##fileformat=VCFv4.1 ##VariantDiscoveryPipelineVersion=1.0.0 ##AnnotationPipelineVersion=1.0.52 ##fileDate=20171109 ##center=NantOmics, LLC ##source="Pedigree genotype analysis Pipeline v1.1" ##reference= ##phasing=none ##INDIVIDUAL=65e64f1e-f662-4218-a9ae-a160b6193abe ##SAMPLE= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FILTER= ##FILTER= ##FILTER= ##FILTER= 50.0% MQ0 reads"> ##FILTER= ##FILTER= ##FILTER= 20"> ##FILTER=2 reads (or 3.0% of total reads) in mother / father"> ##FILTER= ##FILTER= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##FILTER= ##FILTER= ##FILTER= #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 55101705103716 1 1 . N . . NT END=69090;NT GT ./. 1 14522 . G A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;NP=4;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:20:20:0:0:4,16:135,427:11.07,0.00:11.07,0.00:0.00,0.00:0.71,0.00:0.71,0.00:0.00,0.00:24,40:235.0,61.8:0,0:0,0:33,30:117,121:5,19:NR_024540.1(WASH7P) n.1609C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 14542 rs1045833 A G 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=2;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:26:26:0:0:16,1,9:477,10,289:0.00,0.03,26.10:0.00,0.03,26.10:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:40,24,27:27.9,46.0,199.3:0,0,0:0,0,0:27,70,57:124,79,94:15,0,13:-,NR_024540.1(WASH7P) n.1589T>C:-,NOT_FOUND:-,NOT_FOUND 1 14574 rs28503599 A G 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:47:0:0:31,17:977,520:0.00,46.56:0.00,46.75:0.00,-0.19:0.00,1.00:0.00,1.00:0.00,0.57:40,40:38.4,201.2:0,0:0,0:36,35:115,116:17,34:-,NR_024540.1(WASH7P) n.1557T>C:-,NOT_FOUND:-,NOT_FOUND 1 14590 . G A 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:55:0:0:17,39:577,1139:50.94,0.00:51.10,0.00:-0.16,0.00:1.00,0.00:1.00,0.00:0.54,0.00:40,40:208.1,54.9:0,0:0,0:28,52:123,99:16,20:NR_024540.1(WASH7P) n.1541C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 14599 rs531646671 T A 75 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.8524,A/0.1476;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:58:57:0:0:25,33:803,1083:74.99,0.00:75.23,0.00:-0.25,0.00:1.00,0.00:1.00,0.00:0.62,0.00:40,40:188.4,37.5:0,0:0,0:37,57:114,94:16,15:NR_024540.1(WASH7P) n.1532A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 14604 rs541940975 A G 77 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.8524,G/0.1476;PC=0.001;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:58:57:0:0:32,1,24,1:921,6,822,8:0.00,-0.18,77.07,-0.14:0.00,-0.24,77.07,-0.14:0.00,0.06,0.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.61,0.00:40,3,40,23:38.1,58.0,192.9,34.0:0,0,0,0:0,0,0,0:64,32,40,55:87,119,110,94:18,0,14,0:-,NR_024540.1(WASH7P) n.1527T>C:-,NOT_FOUND:-,NOT_FOUND 1 14610 . T C 74 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;PC=0.138;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:59:58:0:0:24,1,34:794,9,946:73.79,-0.13,0.00:72.32,-0.12,0.00:1.47,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.71,0.00,0.00:40,24,40:191.4,46.0,38.2:0,0,0:0,0,0:41,138,67:110,11,84:15,0,16:NR_024540.1(WASH7P) n.1521A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 14626 . G C 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,G:73:69:0:0:6,67:198,2198:13.67,0.00:11.10,0.00:2.57,0.00:0.79,0.00:0.98,0.00:0.51,0.00:27,41:60.2,89.0:0,0:0,0:78,61:71,90:6,37:NR_024540.1(WASH7P) n.1505C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 14653 rs62635297 C T 211 nt VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=105;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:105:93:0:0:38,67:1199,2086:0.00,210.62:0.00,143.79:0.00,66.83:0.00,1.00:0.00,1.00:0.00,1.00:40,42:52.2,84.9:0,0:0,0:101,27:45,121:25,17:-,NR_024540.1(WASH7P) n.1478G>A:-,NOT_FOUND:-,NOT_FOUND 1 14673 rs369473859 G C 64 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=1;NP=16;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:127:113:0:0:25,102:794,3182:64.04,0.00:66.85,0.00:-2.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,43:66.4,61.6:1,1:0,0:45,38:106,104:36,20:NR_024540.1(WASH7P) n.1458C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 14677 rs201327123 G A 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=NA;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,D:132:117:0:1:22,1,108,1:702,11,3336,27:55.06,-0.27,0.00,0.74:34.23,-0.19,0.00,0.82:20.84,-0.08,0.00,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,13,43,27:71.3,215.0,52.5,72.0:0,0,0,0:0,0,0,0:33,13,42,49:107,133,102,102:10,0,25,0:NR_024540.1(WASH7P) n.1454C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 14699 rs62635298 C G 84 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=28;PC=0.965;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:142:125:0:0:109,33:3487,1021:0.00,84.49:0.00,88.73:0.00,-4.24:0.00,1.00:0.00,1.00:0.00,1.00:44,27:53.5,59.4:0,0:0,0:53,46:89,105:24,29:-,NR_024540.1(WASH7P) n.1432G>C:-,NOT_FOUND:-,NOT_FOUND 1 14907 rs79585140 A G 536 nt VT=SNV;PN=A;NN=G;SST=Single;DP=276;DB;DBA=NA;PAF=NA;NP=1723;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:276:163:0:0:106,170:3417,5346:0.00,535.74:0.00,283.25:0.00,252.49:0.00,1.00:0.00,1.00:0.00,1.00:52,53:13.6,65.1:0,0:0,0:93,97:58,50:42,33:-,NR_024540.1(WASH7P) n.1301+63T>C:-,NOT_FOUND:-,NOT_FOUND 1 14930 rs75454623 A G 476 nt VT=SNV;PN=C;NN=A;SST=Single;DP=266;DB;DBA=NA;PAF=NA;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:266:165:0:0:110,155,1:3508,4808,9:0.00,476.22,-0.16:0.00,225.05,-0.09:0.00,251.18,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,52,4:13.9,63.7,160.0:0,0,0:0,0,0:83,80,26:66,69,125:45,47,0:-,NR_024540.1(WASH7P) n.1301+40T>C:-,NOT_FOUND:-,NOT_FOUND 1 15118 rs71252250 A G 113 nt VT=SNV;PN=C;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=230;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:79:12:0:0:39,1,38,1:1083,12,1177,10:0.00,-0.03,112.58,-0.09:0.00,-0.04,12.46,-0.04:0.00,0.01,100.12,-0.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,3,42,40:11.1,99.0,55.7,83.0:0,0,0,0:0,0,0,0:113,103,102,32:38,48,48,116:25,0,30,0:-,NR_024540.1(WASH7P) n.1233-80T>C:-,NOT_FOUND:-,NOT_FOUND 1 15190 rs200030104 G A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=49;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,G:48:1:0:0:4,44:128,1367:8.74,0.00:-0.02,0.00:8.75,0.00:0.55,0.00:0.39,0.00:0.55,0.00:40,42:62.2,56.2:0,0:0,0:101,68:50,82:39,27:NR_024540.1(WASH7P) n.1233-152C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 15211 rs78601809 T G 112 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=227;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,G,T:43:1:0:0:1,35,7:18,1035,206:0.65,111.90,0.00:0.00,1.79,0.00:0.65,110.11,0.00:0.00,1.00,0.00:0.00,0.88,0.00:0.00,1.00,0.00:27,42,42:49.0,64.3,40.6:0,0,0:0,0,0:88,80,120:63,67,31:0,25,5:NR_024540.1(WASH7P) n.1233-173A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 15274 rs62636497 A G,T 79 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=112;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:113:G,T:28:0:0:0:5,23:159,699:14.54,78.81:0.00,0.00:14.54,78.81:0.00,1.00:0.00,0.00:0.00,1.00:40,42:60.2,63.5:0,0:0,0:143,107:6,42:5,25:NR_024540.1(WASH7P) n.1233-236T>C,NR_024540.1(WASH7P) n.1233-236T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 15644 rs564003018 G A 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.9918,A/0.008187;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,G:76:74:0:0:10,66:309,1909:22.85,0.00:23.28,0.00:-0.43,0.00:0.98,0.00:1.00,0.00:0.74,0.00:40,49:36.5,12.8:0,0:0,0:101,45:49,105:45,26:NR_024540.1(WASH7P) n.1232+152C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 15715 . G A 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=105;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:105:80:0:0:13,92:413,3133:30.44,0.00:6.77,0.00:23.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:37,43:62.3,11.8:0,0:0,0:77,51:71,99:27,32:NR_024540.1(WASH7P) n.1232+81C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 15770 . G A 33 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=134;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,G:134:69:0:0:14,120:455,3995:32.70,0.00:-0.56,0.00:33.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:37,55:75.3,12.5:0,0:0,0:114,71:35,75:11,32:NR_024540.1(WASH7P) n.1232+26C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 15774 rs374029747 G A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.988,A/0.01198;NP=2;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G,T:133:65:0:0:12,120,1:375,4158,11:25.79,0.00,-0.31:7.81,0.00,-0.12:17.98,0.00,-0.19:0.99,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:40,55,27:60.9,14.5,123.0:0,0,0:0,0,0:77,89,30:73,59,121:33,30,0:NR_024540.1(WASH7P) n.1232+22C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 15820 rs2691315 G T 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.5895,T/0.4105;PC=1.000;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:G,T:90:45:0:0:80,10:2758,329:0.00,24.05:0.00,3.77:0.00,20.28:0.00,0.98:0.00,0.98:0.00,1.00:55,25:6.0,73.5:0,0:0,0:102,110:42,40:26,19:-,NR_024540.1(WASH7P) n.1208C>A:-,NOT_FOUND:-,NOT_FOUND 1 15903 rs557514207 G GC 36 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5589,GC/0.4411;NP=35;PC=1.000;Gene=WASH7P/NR_024540.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GC:28:13:18:0:1,9,18:18,298,359:0.74,0.00,36.31:0.00,0.00,32.25:0.74,0.00,4.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:7,42,40:94.0,8.7,10.7:1,0,0:0,0,0:42,146,56:107,3,94:0,2,25:-,NR_024540.1(WASH7P) n.1124dupG:-,NOT_FOUND:-,NOT_FOUND 1 15906 . A G 7 end;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;PC=1.000;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C,G:22:14:0:0:17,2,3:510,55,94:0.00,3.67,7.16:0.00,-0.58,-0.89:0.00,4.25,8.04:0.00,0.00,0.48:0.00,0.00,0.80:0.00,0.00,0.64:40,42,15:20.6,27.5,38.7:16,0,3:0,0,0:50,149,143:101,1,8:22,0,0:-,NR_024540.1(WASH7P) n.1122T>C:-,NOT_FOUND:-,NOT_FOUND 1 16068 rs372319358 T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=2;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:C,T:37:13:0:0:6,31:148,1010:10.57,0.00:0.22,0.00:10.35,0.00:0.88,0.00:0.84,0.00:0.98,0.00:40,43:95.3,6.8:0,0:0,0:103,88:47,63:9,22:NR_024540.1(WASH7P) n.1081-121A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16103 rs200358166 T G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=120;PC=0.002;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:G,T:30:8:0:0:4,26:117,782:8.50,0.00:-0.40,0.00:8.90,0.00:0.64,0.00:0.63,0.00:0.92,0.00:29,44:101.5,8.8:0,0:0,0:131,108:17,43:7,18:NR_024540.1(WASH7P) n.1081-156A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16298 rs62636498 C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=4;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:10:3:0:0:7,3:240,89:0.00,7.68:0.00,3.04:0.00,4.63:0.00,0.62:0.00,0.69:0.00,0.89:51,34:8.3,37.7:0,0:0,0:102,139:49,12:8,8:-,NR_024540.1(WASH7P) n.1080+309G>A:-,NOT_FOUND:-,NOT_FOUND 1 16378 rs148220436 T C 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=210;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:23:0:0:18,8:526,242:54.17,0.00:47.75,0.00:6.42,0.00:1.00,0.00:1.00,0.00:0.97,0.00:42,40:43.4,9.1:0,0:0,0:28,47:121,103:10,19:NR_024540.1(WASH7P) n.1080+229A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16495 rs141130360 G C 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=112;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:65:0:0:14,52:466,1718:38.48,0.00:37.04,0.00:1.44,0.00:1.00,0.00:1.00,0.00:0.62,0.00:42,40:40.6,49.9:0,0:0,0:96,78:54,71:20,24:NR_024540.1(WASH7P) n.1080+112C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16497 rs150723783 A G 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=74;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:65:64:0:0:54,11:1734,308:0.00,23.28:0.00,23.52:0.00,-0.24:0.00,0.99:0.00,1.00:0.00,0.59:42,40:40.6,85.1:0,0:0,0:78,84:72,67:27,15:-,NR_024540.1(WASH7P) n.1080+110T>C:-,NOT_FOUND:-,NOT_FOUND 1 16534 rs201459529 C T 117 nt VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=126;PC=0.001;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:67:59:0:0:1,28,38:12,896,1182:0.03,0.00,116.79:0.08,0.00,90.09:-0.04,0.00,26.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:22,40,40:12.0,25.7,68.9:0,0,0:0,0,0:135,87,90:16,63,59:0,35,36:-,NR_024540.1(WASH7P) n.1080+73G>A:-,NOT_FOUND:-,NOT_FOUND 1 16571 rs199676946 G A 153 nt VT=SNV;PN=C;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=56;PC=0.010;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:48:0:0:47,29:1519,854:152.51,0.00:83.32,0.00:69.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:65.0,17.5:0,0:0,0:57,43:94,108:39,22:NR_024540.1(WASH7P) n.1080+36C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16688 . G A 20 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=78;NP=81;PC=0.879;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:78:49:0:0:10,68:284,2129:20.29,0.00:-1.94,0.00:22.23,0.00:0.98,0.00:0.99,0.00:0.94,0.00:40,40:78.6,16.4:0,0:0,0:119,82:32,68:13,53:NR_024540.1(WASH7P) n.999C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16949 rs199745162 A C 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.986,C/0.01398;PC=0.994;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:116:57:0:0:91,25:2775,782:0.00,63.91:0.00,24.79:0.00,39.12:0.00,1.00:0.00,1.00:0.00,1.00:40,29:19.7,63.8:0,0:0,0:44,46:107,105:34,25:-,NR_024540.1(WASH7P) n.830T>G:-,NOT_FOUND:-,NOT_FOUND 1 16977 . G A 69 nt VT=SNV;PN=G;NN=C;SST=Single;DP=117;NP=14;PC=1.000;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:117:65:0:0:28,89:839,2679:69.35,0.00:15.22,0.00:54.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:25,40:43.6,27.8:0,0:0,0:70,49:79,102:28,22:NR_024540.1(WASH7P) n.802C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17020 rs199740902 G A 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.010;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:111:69:0:0:19,92:523,2765:39.42,0.00:16.64,0.00:22.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:76.1,27.0:0,0:0,0:93,86:58,64:26,20:NR_024540.1(WASH7P) n.759C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17181 . G C 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=164;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:164:117:0:0:17,147:587,4504:43.12,0.00:27.90,0.00:15.22,0.00:1.00,0.00:1.00,0.00:0.97,0.00:40,40:44.2,14.6:0,0:0,0:40,48:111,100:31,30:NR_024540.1(WASH7P) n.723+52C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17365 rs369606208 C G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=248;DB;DBA=NA;PAF=NA;NP=144;PC=0.998;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,C,G:248:125:0:0:1,224,23:8,7205,699:-0.36,0.00,47.94:-0.18,0.00,39.73:-0.19,0.00,8.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:21,49,48:67.0,26.2,44.4:0,0,0:0,0,0:108,64,57:42,85,94:0,33,43:-,NR_024540.1(WASH7P) n.591G>C:-,NOT_FOUND:-,NOT_FOUND 1 17385 rs201535981 G A 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=282;DB;DBA=NA;PAF=NA;PC=0.005;Gene=WASH7P/NR_024540.1/0;VC=NonCoding;Gene=MIR6859-1/NR_106918.1/0;VC=NonCoding;Gene=MIR6859-2/NR_107062.1/0;VC=NonCoding;Gene=MIR6859-3/NR_107063.1/0;VC=NonCoding;Gene=MIR6859-4/NR_128720.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:282:142:0:0:35,246,1:1072,7609,11:78.23,0.00,-0.37:27.07,0.00,-0.20:51.15,0.00,-0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:49,50,1:45.9,25.8,203.0:0,0,0:0,0,0:58,65,42:93,85,83:40,36,0:NR_024540.1(WASH7P) n.588-17C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17408 . C G 160 nt VT=SNV;PN=G;NN=T;SST=Single;DP=282;NP=16;PC=0.005;Gene=WASH7P/NR_024540.1/0;VC=NonCoding;Gene=MIR6859-1/NR_106918.1/0;VC=NonCoding;Gene=MIR6859-2/NR_107062.1/0;VC=NonCoding;Gene=MIR6859-3/NR_107063.1/0;VC=NonCoding;Gene=MIR6859-4/NR_128720.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:282:142:0:0:220,62:7222,1951:0.00,160.24:0.00,68.09:0.00,92.16:0.00,1.00:0.00,1.00:0.00,1.00:50,49:19.9,68.3:0,0:0,0:66,65:85,83:34,35:-,NR_024540.1(WASH7P) n.588-40G>C:-,NOT_FOUND:-,NOT_FOUND 1 17452 rs200503540 C T 194 nt VT=SNV;PN=G;NN=G;SST=Single;DP=285;DB;DBA=NA;PAF=NA;NP=47;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:285:153:0:0:212,73:6615,2297:0.00,194.22:0.00,63.22:0.00,130.99:0.00,1.00:0.00,1.00:0.00,1.00:50,49:18.0,62.6:0,0:0,0:78,84:72,67:29,39:-,NR_024540.1(WASH7P) n.588-84G>A:-,NOT_FOUND:-,NOT_FOUND 1 17538 rs200046632 C A 94 nt VT=SNV;PN=G;NN=C;SST=Single;DP=213;DB;DBA=NA;PAF=NA;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:213:107:0:0:43,170:1195,5474:93.61,0.00:57.12,0.00:36.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,49:34.3,16.6:0,0:0,0:95,89:51,62:25,27:NR_024540.1(WASH7P) n.587+68G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17614 rs201057270 G A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=25;PC=0.001;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:128:41:0:0:16,112:543,3454:41.00,0.00:4.37,0.00:36.64,0.00:1.00,0.00:0.98,0.00:1.00,0.00:48,49:37.1,21.7:0,0:0,0:121,115:29,33:11,31:NR_024540.1(WASH7P) n.579C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17697 rs374995955 G C 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=36;PC=1.000;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:77:0:0:0:13,64:340,1966:25.12,0.00:0.00,0.00:25.12,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,40:60.3,32.7:0,0:0,0:80,88:71,62:25,33:NR_024540.1(WASH7P) n.496C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17746 rs370884870 A G 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=46;PC=0.390;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:0:0:0:36,22:953,615:0.00,55.28:0.00,0.00:0.00,55.28:0.00,1.00:0.00,0.00:0.00,1.00:40,40:43.2,64.4:0,0:0,0:101,95:46,55:28,24:-,NR_024540.1(WASH7P) n.451-4T>C:-,NOT_FOUND:-,NOT_FOUND 1 24912 . G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;PC=0.037;Gene=WASH7P/NR_024540.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G,T:4:0:0:0:2,1,1:67,35,10:6.75,0.00,0.75:0.00,0.00,0.00:6.75,0.00,0.75:0.51,0.00,0.00:0.00,0.00,0.00:0.51,0.00,0.00:23,18,24:33.5,0.0,24.0:0,0,0:0,0,0:114,82,111:36,69,40:2,0,0:NR_024540.1(WASH7P) n.51-21C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 69270 rs201219564 A G 80 lc VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=OR4F5/NM_001005484.1/1;CC=c.180A>G;ProtCh=p.S60=;VC=Silent;DM=OR4F5/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:26:26:0:0:26:684:80.32:80.32:0.00:1.00:1.00:0.00:40:35.8:0:0:59:91:36:NM_001005484.1(OR4F5) c.180A>G (p.(=)),NM_001005484.1(OR4F5) c.180A>G (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 69511 rs75062661 A G 508 lc VT=SNV;PN=C;NN=C;SST=Single;DP=139;DB;DBA=NA;PAF=NA;Gene=OR4F5/NM_001005484.1/1;CC=c.421A>G;ProtCh=p.T141A;VC=Missense;DM=OR4F5/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:139:93:0:0:1,138:35,4455:0.00,508.44:0.00,242.47:0.00,265.97:0.00,1.00:0.00,1.00:0.00,1.00:60,52:0.0,38.5:0,0:0,0:71,48:80,96:0,30:NM_001005484.1(OR4F5) c.421A>G (p.Thr141Ala),NM_001005484.1(OR4F5) c.421A>G (p.Thr141Ala):0.65,0.65:0.759766,0.759766 1 69897 rs200676709 T C 31 lc VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.3119,C/0.6881;NP=498;Gene=OR4F5/NM_001005484.1/1;CC=c.807T>C;ProtCh=p.S269=;VC=Silent;DM=OR4F5/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:C,T:11:5:0:0:10,1:282,35:31.49,0.00:15.55,0.00:15.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,13:39.6,0.0:0,0:0,0:73,33:76,118:28,0:NM_001005484.1(OR4F5) c.807T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 70009 . A . . NT END=367658;NT GT ./. 1 109640 rs201327920 T A 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=133 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,T:4:1:0:0:2,2:66,68:6.35,0.00:1.74,0.00:4.61,0.00:0.51,0.00:0.67,0.00:0.51,0.00:50,21:33.0,21.5:0,0:0,0:123,77:17,60:21,5:chr1 g.109639T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 129285 rs372768449 G A 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=121;PC=0.383 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:12:0:0:13,10:424,348:41.75,0.00:17.77,0.00:23.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:48.0,5.6:0,0:0,0:87,97:54,54:16,33:chr1 g.129284G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 135032 rs148209574 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:16:16:0:0:5,11:164,336:14.47,0.00:14.47,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:40,40:41.4,17.6:0,0:0,0:72,56:79,95:16,22:NR_039983.2(LOC729737) n.5215C>T,-:0.07,-:NOT_FOUND,- 1 135465 rs375289924 C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=30;PC=0.017;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,T:13:0:0:0:6,7:149,215:0.00,20.97:0.00,0.00:0.00,20.97:0.00,0.99:0.00,0.00:0.00,0.99:40,40:11.5,74.1:0,0:0,0:108,116:43,35:12,21:-,NR_039983.2(LOC729737) n.4782G>A:-,NOT_FOUND:-,NOT_FOUND 1 138156 rs370691115 G T 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=22;PC=0.315;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:53:26:0:0:39,14:1171,436:0.00,37.02:0.00,18.69:0.00,18.33:0.00,1.00:0.00,1.00:0.00,1.00:24,25:17.1,35.6:0,0:0,0:75,78:76,72:33,29:-,NR_039983.2(LOC729737) n.2091C>A:-,NOT_FOUND:-,NOT_FOUND 1 139213 rs370723703 A G 138 nt VT=SNV;PN=C;NN=T;SST=Single;DP=192;DB;DBA=NA;PAF=NA;NP=62;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:192:126:0:0:139,53:4642,1617:0.00,137.85:0.00,57.27:0.00,80.58:0.00,1.00:0.00,1.00:0.00,1.00:40,60:9.9,70.0:0,0:0,0:67,65:84,86:37,45:-,NR_039983.2(LOC729737) n.1034T>C:-,NOT_FOUND:-,NOT_FOUND 1 139233 rs373847457 C A 146 nt VT=SNV;PN=G;NN=C;SST=Single;DP=205;DB;DBA=NA;PAF=NA;NP=62;PC=0.003;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:205:140:0:0:56,148,1:1717,4845,9:146.38,0.00,-0.28:73.92,0.00,-0.14:72.47,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,40:67.1,8.9,101.0:0,0,0:0,0,0:62,64,45:88,85,106:43,35,0:NR_039983.2(LOC729737) n.1014G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 139751 . T G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;NP=1;PC=0.005;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:G,T:24:3:0:0:3,21:100,639:7.51,0.00:-0.15,0.00:7.65,0.00:0.47,0.00:0.38,0.00:0.88,0.00:40,50:99.7,12.2:0,0:0,0:73,68:78,83:29,35:NR_039983.2(LOC729737) n.550+39A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 139781 rs371864317 G A 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=13;PC=0.162;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:1:0:0:11,14:364,461:34.19,0.00:3.42,0.00:30.77,0.00:1.00,0.00:0.63,0.00:1.00,0.00:40,55:61.5,3.0:0,0:0,0:33,96:117,54:20,33:NR_039983.2(LOC729737) n.550+9C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 139836 . G C 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;NP=12;PC=0.002;Gene=LOC729737/NR_039983.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:C,G:22:1:0:0:3,19:95,606:7.13,0.00:-0.03,0.00:7.16,0.00:0.48,0.00:0.42,0.00:0.48,0.00:40,55:83.0,22.2:0,0:0,0:73,88:78,62:4,48:NR_039983.2(LOC729737) n.504C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 324772 . G A 10 end;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;Gene=LOC100132287/NR_028322.1/0;VC=NonCoding;Gene=LOC100132062/NR_028325.1/0;VC=NonCoding;Gene=LOC100133331/NR_028327.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:A,G:5:4:0:0:3,2:95,37:9.56,0.00:8.23,0.00:1.33,0.00:0.78,0.00:0.97,0.00:0.87,0.00:17,22:74.3,103.5:0,0:0,0:2,116:149,34:2,24:NR_028322.1(LOC100132287) n.561G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 368598 . A . . NT END=621095;NT GT ./. 1 622035 . T . . NT END=861321;NT GT ./. 1 662029 rs200946230 G A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=LOC100133331/NR_028327.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:3:0:0:9:256:29.83:5.92:23.91:1.00:1.00:1.00:40:56.7:0:0:97:54:32:NR_028327.1(LOC100133331) n.3383C>T,NR_028327.1(LOC100133331) n.3383C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 663097 rs61769340 G C 73 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=80;PC=0.374;Gene=LOC100133331/NR_028327.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:20:0:0:20:635:73.02:70.00:3.02:1.00:1.00:1.00:40:41.8:0:0:24:127:14:NR_028327.1(LOC100133331) n.2315C>G,NR_028327.1(LOC100133331) n.2315C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 664271 . C A 99 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;PC=0.003;Gene=LOC100133331/NR_028327.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:41:41:0:0:29,10,2:951,327,21:99.29,0.00,0.59:99.29,0.00,0.59:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:40,39,22:42.2,14.6,101.5:0,0,0:0,0,0:43,80,68:108,70,71:31,39,29:NR_028327.1(LOC100133331) n.1141G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 664468 rs61769341 G T 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=NA;PC=0.107;Gene=LOC100133331/NR_028327.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:126:70:0:0:94,32:3039,1058:0.00,90.08:0.00,33.64:0.00,56.44:0.00,1.00:0.00,1.00:0.00,1.00:50,42:12.1,39.6:0,0:0,0:65,82:85,69:25,24:-,NR_028327.1(LOC100133331) n.944C>A:-,NOT_FOUND:-,NOT_FOUND 1 664834 rs377593965 T G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.406;Gene=LOC100133331/NR_028327.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G,T:17:9:0:0:1,12,4:14,377,114:0.61,39.50,0.00:0.69,18.16,0.00:-0.08,21.34,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,24,24:87.0,38.3,28.8:0,0,0:0,0,0:149,114,92:2,36,58:0,11,2:NR_028327.1(LOC100133331) n.578A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 664844 . T C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;PC=0.492;Gene=LOC100133331/NR_028327.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:C,T:18:8:0:0:4,14:141,425:11.87,0.00:6.20,0.00:5.67,0.00:0.73,0.00:0.83,0.00:0.91,0.00:23,24:94.0,31.9:0,0:0,0:67,110:78,41:55,10:NR_028327.1(LOC100133331) n.568A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 672209 rs79279787 G A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=33;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,G:10:0:0:0:4,6:125,210:11.49,0.00:0.00,0.00:11.49,0.00:0.84,0.00:0.00,0.00:0.84,0.00:51,50:50.8,0.0:0,0:0,0:90,69:60,81:19,22:NR_028327.1(LOC100133331) n.-6478C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 726922 rs113477110 C A,T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:A,T:4:3:0:0:3,1:85,33:9.55,3.18:4.73,1.59:4.83,1.59:0.85,0.00:0.99,0.00:0.99,0.00:40,43:183.3,287.0:0,0:0,0:25,26:98,110:1,0:chr1 g.726921C>A (intergenic),chr1 g.726921C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 726924 rs373544885 T G 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;PC=0.176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:G,T:4:3:0:0:2,2:70,46:6.76,0.00:5.36,0.00:1.40,0.00:0.51,0.00:0.89,0.00:0.89,0.00:40,40:153.5,225.5:0,0:0,0:20,24:83,102:7,4:chr1 g.726923T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 726938 rs3115867 T A 7 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.146 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,T,I:4:3:1:0:2,1,1:65,34,32:6.55,0.00,2.95:1.64,0.00,3.01:4.91,0.00,-0.06:0.51,0.00,0.00:0.89,0.00,0.00:0.89,0.00,0.00:15,43,40:178.0,287.0,194.0:1,0,0:0,0,0:41,42,27:61,94,99:0,0,0:chr1 g.726937T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 808631 rs11240779 G A 158 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5465,A/0.4535;PC=0.001;Gene=FAM41C/NR_027055.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A:44:41:0:0:44:1368:157.67:139.89:17.78:1.00:1.00:1.00:60:45.9:0:0:31:119:25:NR_027055.1(FAM41C) n.1101+861C>T,NR_027055.1(FAM41C) n.1101+861C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 808922 rs6594027 G A 442 nt VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.01737,A/0.9826;Gene=FAM41C/NR_027055.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:117:64:0:0:117:3866:442.24:189.73:252.50:1.00:1.00:1.00:60:71.6:0:0:69:78:42:NR_027055.1(FAM41C) n.1101+570C>T,NR_027055.1(FAM41C) n.1101+570C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 1 808928 rs11240780 C T 404 nt VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.5477,T/0.4523;Gene=FAM41C/NR_027055.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:114:59:0:0:2,1,111:24,6,3556:0.00,0.02,404.41:0.00,0.03,171.01:0.00,-0.00,233.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,52,60:48.0,77.0,72.4:0,0,0:0,0,0:93,25,71:56,126,76:55,0,38:NR_027055.1(FAM41C) n.1101+564G>A,NR_027055.1(FAM41C) n.1101+564G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 809123 rs61768216 G A 37 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=180;DB;DBA=NA;PAF=NA;NP=9;PC=0.024;Gene=FAM41C/NR_027055.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:180:139:0:0:16,164:525,5065:36.78,0.00:39.80,0.00:-3.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:96.4,6.0:0,0:0,0:54,57:96,91:23,36:NR_027055.1(FAM41C) n.1101+369C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 809135 rs61768217 C T 43 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=189;DB;DBA=NA;PAF=NA;NP=2;PC=0.789;Gene=FAM41C/NR_027055.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:C,T:189:140:0:0:170,19:5389,603:0.00,42.74:0.00,45.03:0.00,-2.30:0.00,1.00:0.00,1.00:0.00,1.00:60,40:7.3,87.5:0,0:0,0:69,49:78,99:37,24:-,NR_027055.1(FAM41C) n.1101+357G>A:-,NOT_FOUND:-,NOT_FOUND 1 809319 . C T 46 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=135;NP=11;PC=1.000;Gene=FAM41C/NR_027055.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:135:68:0:0:114,1,20:3434,9,607:0.00,-0.29,45.84:0.00,-0.09,0.52:0.00,-0.20,45.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,52,52:9.9,96.0,75.2:0,0,0:0,0,0:99,43,125:51,108,25:33,0,17:-,NR_027055.1(FAM41C) n.1101+173G>A:-,NOT_FOUND:-,NOT_FOUND 1 861394 . G . . NT END=865534;NT GT ./. 1 865717 . G . . NT END=866418;NT GT ./. 1 866319 rs9988021 G A 92 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.04653,A/0.9535;Gene=SAMD11/NM_152486.2/1;CC=c.255-100G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:23:0:0:26:793:91.60:75.60:16.01:1.00:1.00:1.00:60:48.2:0:0:37:111:32:NM_152486.2(SAMD11) c.255-100G>A,NM_152486.2(SAMD11) c.255-100G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 866470 . G . . NT END=871151;NT GT ./. 1 866511 rs60722469 C CCCCT 35 sb,nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.851,CCCCT/0.149,CCCCTCCCT/.;DB;DBA=NA;PAF=C/0.851,CCCCT/0.149;NP=1578;PC=0.002;Gene=SAMD11/NM_152486.2/1;CC=c.305+54_305+57dupTCCC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCCCT:53:22:14:0:39,14:1219,416:0.00,35.00:0.00,-0.41:0.00,35.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,11.1:0,0:0,0:119,53:16,97:16,17:-,NM_152486.2(SAMD11) c.305+42_305+43insCCCT:-,NOT_FOUND:-,NOT_FOUND 1 870903 rs13303094 T C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.05212,C/0.9479;Gene=SAMD11/NM_152486.2/1;CC=c.306-249T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:327:37.47:37.47:0.00:1.00:1.00:0.00:60:51.1:0:0:50:101:21:NM_152486.2(SAMD11) c.306-249T>C,NM_152486.2(SAMD11) c.306-249T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 871277 . G . . NT END=874419;NT GT ./. 1 871334 rs4072383 G T 116 nt VT=SNV;PN=G;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SAMD11/NM_152486.2/1;CC=c.430+58G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:102:55:0:0:61,41:1980,1267:0.00,116.39:0.00,43.60:0.00,72.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,38.7:0,0:0,0:84,80:62,69:24,30:-,NM_152486.2(SAMD11) c.430+58G>T:-,0.51:-,NOT_FOUND 1 874510 . G . . NT END=874651;NT GT ./. 1 874841 . G . . NT END=876523;NT GT ./. 1 876499 rs4372192 A G 224 nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.08686,G/0.9131;PC=0.507;Gene=SAMD11/NM_152486.2/1;CC=c.707-25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:C,G:62:54:0:0:1,61:13,1957:0.28,224.32:0.28,161.92:0.00,62.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,45.8:0,0:0,0:46,55:105,95:0,29:NM_152486.2(SAMD11) c.707-25A>G,NM_152486.2(SAMD11) c.707-25A>G:0.92,0.92:0.91929,0.91929 1 876687 . G . . NT END=877515;NT GT ./. 1 877632 . G . . NT END=877789;NT GT ./. 1 877715 rs6605066 C G 131 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.112,G/0.888;Gene=SAMD11/NM_152486.2/1;CC=c.986-75C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:G:39:20:0:0:39:1122:130.55:54.14:76.41:1.00:1.00:1.00:60:52.8:0:0:87:64:40:NM_152486.2(SAMD11) c.986-75C>G,NM_152486.2(SAMD11) c.986-75C>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 877831 rs6672356 T C 382 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=NA;NP=374;PC=0.941;Gene=SAMD11/NM_152486.2/1;CC=c.1027T>C;ProtCh=p.W343R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:111:95:0:0:110,1:3301,7:381.85,0.04:276.91,0.00:104.94,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.9,7.0:0,0:0,0:49,0:96,151:26,0:NM_152486.2(SAMD11) c.=,NM_152486.2(SAMD11) c.=:1,1:NOT_FOUND,NOT_FOUND 1 877869 . G . . NT END=877938;NT GT ./. 1 878331 rs148327885 C T 271 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=C/0.9948,T/0.005192;NP=13;Gene=SAMD11/NM_152486.2/1;CC=c.1457C>T;ProtCh=p.P486L;VC=Missense;DM=SAMD11/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:153:102:0:0:67,1,85:2054,9,2760:0.00,-0.15,271.22:0.00,-0.04,127.97:0.00,-0.11,143.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.4,115.0,44.2:0,0,0:0,0,0:89,49,81:55,102,69:28,0,20:-,NM_152486.2(SAMD11) c.1457C>T (p.Pro486Leu):-,0.01:-,0.007161 1 878439 . G . . NT END=878632;NT GT ./. 1 878758 . G . . NT END=879077;NT GT ./. 1 878906 rs70949529 CTTT C 14 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CTTT/0.2268,C/0.7732;NP=4;Gene=SAMD11/NM_152486.2/1;CC=c.1690-152_1690-150delTTT;VC=Intron;DM=SAMD11/SAM_2;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:CTTT,C:20:16:0:17:14,6:431,458:0.00,13.72:0.00,5.08:0.00,8.64:0.00,0.90:0.00,0.94:0.00,0.92:60,60:51.0,129.5:0,10:0,0:126,53:19,91:20,32:-,NM_152486.2(SAMD11) c.1689+150_1689+152delTTT:-,NOT_FOUND:-,NOT_FOUND 1 879676 rs6605067 G A 347 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.114,A/0.886;PC=0.003;Gene=SAMD11/NM_152486.2/1;CC=c.*143G>A;VC=3UTR;Gene=NOC2L/NM_015658.3/1;CC=c.*398C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:91:36:0:0:91:3038:347.14:95.35:251.79:1.00:1.00:1.00:60:69.6:0:0:88:60:40:NM_015658.3(NOC2L) c.*398C>T,NM_015658.3(NOC2L) c.*398C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 1 879687 rs2839 T C 304 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.07887,C/0.9211,G/.;PC=0.001;Gene=SAMD11/NM_152486.2/1;CC=c.*154T>C;VC=3UTR;Gene=NOC2L/NM_015658.3/1;CC=c.*387A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:86:34:0:0:86:2637:304.49:91.35:213.14:1.00:1.00:1.00:60:72.8:0:0:96:54:40:NM_015658.3(NOC2L) c.*387A>G,NM_015658.3(NOC2L) c.*387A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 879707 . A . . NT END=880073;NT GT ./. 1 880181 . C . . NT END=880421;NT GT ./. 1 880238 rs3748592 A G 220 nt VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.07907,G/0.9209;PC=0.005;Gene=NOC2L/NM_015658.3/1;CC=c.2144-58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:G:63:30:0:0:63:1900:219.80:89.20:130.61:1.00:1.00:1.00:60:44.9:0:0:88:61:28:NM_015658.3(NOC2L) c.2144-58T>C,NM_015658.3(NOC2L) c.2144-58T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 880527 . C . . NT END=880897;NT GT ./. 1 880639 rs397844509 TC T 91 nt VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=TC/0.8119,T/0.1881;DB;DBA=NA;PAF=TC/0.8119,T/0.1881;NP=421;Gene=NOC2L/NM_015658.3/1;CC=c.2054-114delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:65:21:0:30:35,30:1095,966:0.00,91.45:0.00,20.13:0.00,71.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,9.9:0,0:0,0:108,116:42,35:21,21:-,NM_015658.3(NOC2L) c.2054-114delG:-,0.18:-,NOT_FOUND 1 881034 . C . . NT END=881552;NT GT ./. 1 881627 rs2272757 G A 103 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.5581,A/0.4419;PC=1.000;Gene=NOC2L/NM_015658.3/1;CC=c.1843C>T;ProtCh=p.L615=;VC=Silent;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:76:0:0:34,60:1138,1960:103.31,0.00:55.02,0.00:48.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,6.5:0,0:0,0:56,65:89,80:21,34:NM_015658.3(NOC2L) c.1843C>T (p.(=)),-:0.47,-:0.474777,- 1 881667 . C . . NT END=881781;NT GT ./. 1 881926 . C . . NT END=883510;NT GT ./. 1 882033 rs2272756 G A 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.8632,A/0.1368;PC=0.001;Gene=NOC2L/NM_015658.3/1;CC=c.1660-108C>T;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:14:0:0:27,29:840,929:79.99,0.00:10.28,0.00:69.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,6.7:0,0:0,0:87,108:64,41:25,30:NM_015658.3(NOC2L) c.1660-108C>T,-:0.15,-:NOT_FOUND,- 1 883613 . C . . NT END=883869;NT GT ./. 1 883625 rs4970378 A G 285 nt VT=SNV;PN=G;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=2554;Gene=NOC2L/NM_015658.3/1;CC=c.1558-13T>C;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:47:0:0:76:2488:285.02:111.53:173.49:1.00:1.00:1.00:60:38.4:0:0:96:45:25:NM_015658.3(NOC2L) c.1558-13T>C,NM_015658.3(NOC2L) c.1558-13T>C:1,1:0.999846,0.999846 1 883984 . C . . NT END=886506;NT GT ./. 1 884091 rs7522415 C G 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=NOC2L/NM_015658.3/1;CC=c.1444-108G>C;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:21:1:0:0:13,8:455,272:0.00,24.96:0.00,3.26:0.00,21.70:0.00,0.99:0.00,0.59:0.00,1.00:60,60:35.8,42.5:0,0:0,0:114,67:20,64:13,7:-,NM_015658.3(NOC2L) c.1444-108G>C:-,NOT_FOUND:-,NOT_FOUND 1 884101 rs4970455 A C 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=655;Gene=NOC2L/NM_015658.3/1;CC=c.1444-118T>G;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:20:1:0:0:9,11:267,359:0.00,35.17:0.00,-0.34:0.00,35.52:0.00,1.00:0.00,0.70:0.00,1.00:60,60:37.8,40.1:0,0:0,0:77,124:55,10:8,10:-,NM_015658.3(NOC2L) c.1444-118T>G:-,NOT_FOUND:-,NOT_FOUND 1 886409 rs77573237 G C 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.985,C/0.01498;Gene=NOC2L/NM_015658.3/1;CC=c.1443+98C>G;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:26:26:0:0:13,13:401,405:38.46,0.00:38.46,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.5,19.6:0,0:0,0:59,40:92,99:21,19:NM_015658.3(NOC2L) c.1443+98C>G,-:0.02,-:NOT_FOUND,- 1 886619 . C . . NT END=887379;NT GT ./. 1 886788 rs10465242 G A 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2909,A/0.7091;Gene=NOC2L/NM_015658.3/1;CC=c.1332-170C>T;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:281:31.92:0.00:31.92:1.00:0.00:1.00:60:75.8:0:0:91:59:20:NM_015658.3(NOC2L) c.1332-170C>T,NM_015658.3(NOC2L) c.1332-170C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 886817 rs10465241 C T 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1611,T/0.7097;Gene=NOC2L/NM_015658.3/1;CC=c.1332-199G>A;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:305:35.26:0.00:35.26:1.00:0.00:1.00:60:66.3:0:0:102:49:38:NM_015658.3(NOC2L) c.1332-199G>A,NM_015658.3(NOC2L) c.1332-199G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 887520 . C . . NT END=887791;NT GT ./. 1 887560 rs3748595 A C 242 nt VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.1002,C/0.8998;Gene=NOC2L/NM_015658.3/1;CC=c.1192-41T>G;VC=Intron;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:183:C,G:66:23:0:0:65,1:2110,5:241.52,0.03:61.50,0.03:180.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,95.0:0,0:0,0:87,48:63,103:32,0:NM_015658.3(NOC2L) c.1192-41T>G,NM_015658.3(NOC2L) c.1192-41T>G:0.84,0.84:0.898278,0.898278 1 887801 rs3828047 A G 357 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.07768,G/0.9223,T/.;Gene=NOC2L/NM_015658.3/1;CC=c.1182T>C;ProtCh=p.T394=;VC=Silent;DM=NOC2L/Noc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:100:79:0:0:100:3100:357.33:223.98:133.35:1.00:1.00:1.00:60:38.8:0:0:52:94:26:NM_015658.3(NOC2L) c.=,NM_015658.3(NOC2L) c.=:0.93,0.93:0.927418,0.927418 1 887981 . C . . NT END=888554;NT GT ./. 1 888639 rs3748596 T C 201 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.07728,C/0.9227,G/.;PC=0.883;Gene=NOC2L/NM_015658.3/1;CC=c.918A>G;ProtCh=p.E306=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C:54:36:0:0:54:1756:201.30:92.58:108.72:1.00:1.00:1.00:60:69.2:0:0:84:54:31:NM_015658.3(NOC2L) c.918A>G (p.(=)),NM_015658.3(NOC2L) c.918A>G (p.(=)):0.93,0.93:0.927264,0.927264 1 888659 rs3748597 T C 167 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.07728,C/0.9227;PC=0.025;Gene=NOC2L/NM_015658.3/1;CC=c.898A>G;ProtCh=p.I300V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:A,C:46:30:0:0:1,45:10,1460:0.20,166.99:0.20,71.97:0.00,95.02:0.00,1.00:0.00,1.00:0.00,1.00:54,60:62.0,70.9:0,0:0,0:18,95:90,55:0,23:NM_015658.3(NOC2L) c.=,NM_015658.3(NOC2L) c.=:0.93,0.93:0.92733,0.92733 1 888669 . C . . NT END=889161;NT GT ./. 1 889158 rs13303056 G C 246 nt VT=SNV;PN=C;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.09565,C/0.9044;Gene=NOC2L/NM_015658.3/1;CC=c.888+4C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:69:61:0:0:68,1:2149,6:245.94,0.00:176.25,0.00:69.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.3,45.0:0,0:0,0:38,15:112,136:17,0:NM_015658.3(NOC2L) c.888+4C>G,NM_015658.3(NOC2L) c.888+4C>G:0.85,0.85:0.896231,0.896231 1 889159 rs13302945 A C 250 nt VT=SNV;PN=G;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.09565,C/0.9044;PC=0.001;Gene=NOC2L/NM_015658.3/1;CC=c.888+3T>G;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:69:61:0:0:69:2177:250.44:178.12:72.32:1.00:1.00:1.00:60:73.8:0:0:39:111:17:NM_015658.3(NOC2L) c.888+3T>G,NM_015658.3(NOC2L) c.888+3T>G:0.85,0.85:0.895385,0.895385 1 889273 . C . . NT END=889383;NT GT ./. 1 889463 . C . . NT END=891302;NT GT ./. 1 889638 rs13303206 G C 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.09844,C/0.9016;Gene=NOC2L/NM_015658.3/1;CC=c.699-176C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:399:46.05:0.00:46.05:1.00:0.00:1.00:60:52.9:0:0:123:28:18:NM_015658.3(NOC2L) c.699-176C>G,NM_015658.3(NOC2L) c.699-176C>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 889713 rs13303051 C A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1026,A/0.8974;Gene=NOC2L/NM_015658.3/1;CC=c.699-251G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:159:18.28:0.00:18.28:1.00:0.00:1.00:60:72.4:0:0:63:88:32:NM_015658.3(NOC2L) c.699-251G>T,NM_015658.3(NOC2L) c.699-251G>T:0.9,0.9:NOT_FOUND,NOT_FOUND 1 891394 . C . . NT END=891474;NT GT ./. 1 891596 . C . . NT END=892273;NT GT ./. 1 892406 . C . . NT END=892478;NT GT ./. 1 892654 . C . . NT END=894308;NT GT ./. 1 892745 rs13303227 G A 162 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.07927,A/0.9207;Gene=NOC2L/NM_015658.3/1;CC=c.180-92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A:44:6:0:0:44:1408:161.73:13.52:148.21:1.00:1.00:1.00:60:42.0:0:0:111:39:22:NM_015658.3(NOC2L) c.180-92C>T,NM_015658.3(NOC2L) c.180-92C>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 894462 . C . . NT END=894594;NT GT ./. 1 894573 rs13303010 G A 488 nt VT=SNV;PN=C;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.3656,A/0.6344;Gene=NOC2L/NM_015658.3/1;CC=c.26+22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:129:75:0:0:129:4262:487.54:203.74:283.80:1.00:1.00:1.00:60:46.9:0:0:69:77:40:NM_015658.3(NOC2L) c.26+22C>T,NM_015658.3(NOC2L) c.26+22C>T:0.65,0.65:0.690167,0.690167 1 894621 . G . . NT END=896073;NT GT ./. 1 894890 rs70949531 A AAGAC 19 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.08327,AAGAC/0.9167,AGAC/.;DB;DBA=NA;PAF=A/0.08327,AAGAC/0.9167;NP=599;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,AAGAC:9:0:8:0:2,7:63,189:0.00,18.78:0.00,0.00:0.00,18.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.5,50.1:0,1:0,0:142,90:5,55:3,12:-,NM_015658.3(NOC2L) c.-59-u212_-59-u211insGTCT:-,NOT_FOUND:-,NOT_FOUND 1 896181 . g . . NT END=896217;NT GT ./. 1 896271 rs112905931 C T 120 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.6222,T/0.3778;Gene=KLHL17/NM_198317.2/1;CC=c.107+91C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:43:0:0:50,41:1599,1280:0.00,120.37:0.00,34.63:0.00,85.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,51.2:0,0:0,0:97,101:51,46:28,26:-,NM_198317.2(KLHL17) c.107+91C>T:-,0.44:-,NOT_FOUND 1 896302 . G . . NT END=896672;NT GT ./. 1 896476 rs28393498 A G 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.07788,G/0.9221;Gene=KLHL17/NM_198317.2/1;CC=c.108-197A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:22:0:0:28:865:99.85:77.69:22.16:1.00:1.00:1.00:60:36.0:0:0:38:113:20:NM_198317.2(KLHL17) c.108-197A>G,NM_198317.2(KLHL17) c.108-197A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 896933 . G . . NT END=897008;NT GT ./. 1 897131 . G . . NT END=897205;NT GT ./. 1 897325 rs4970441 G C 436 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=G/0.1408,C/0.8592,T/.;Gene=KLHL17/NM_198317.2/1;CC=c.609G>C;ProtCh=p.A203=;VC=Silent;DM=KLHL17/BACK;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:128:86:0:0:123,3,2:3827,30,30:435.67,0.00,1.00:211.71,0.00,1.03:223.97,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.4,56.0,122.5:0,0,0:0,0,0:77,40,73:68,111,75:32,12,4:NM_198317.2(KLHL17) c.609G>C (p.(=)),NM_198317.2(KLHL17) c.609G>C (p.(=)):0.87,0.87:0.85889,0.85889 1 897428 . G . . NT END=897665;NT GT ./. 1 897564 rs13303229 T C 132 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.1,C/0.9;Gene=KLHL17/NM_198317.2/1;CC=c.711+137T>C;VC=Intron;DM=KLHL17/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:C:35:21:0:0:35:1157:132.35:75.95:56.40:1.00:1.00:1.00:60:50.5:0:0:30:121:21:NM_198317.2(KLHL17) c.711+137T>C,NM_198317.2(KLHL17) c.711+137T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 897852 . G . . NT END=897995;NT GT ./. 1 898298 . G . . NT END=898488;NT GT ./. 1 898323 rs6605071 T C 429 nt VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.07308,C/0.9269;Gene=KLHL17/NM_198317.2/1;CC=c.1042+26T>C;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:116:70:0:0:116:3738:429.00:205.88:223.12:1.00:1.00:1.00:60:44.2:0:0:93:55:29:NM_198317.2(KLHL17) c.1042+26T>C,NM_198317.2(KLHL17) c.1042+26T>C:0.93,0.93:0.935941,0.935941 1 898634 . G . . NT END=898716;NT GT ./. 1 898885 . G . . NT END=899299;NT GT ./. 1 899389 . G . . NT END=899486;NT GT ./. 1 899561 . G . . NT END=899728;NT GT ./. 1 899911 . G . . NT END=900342;NT GT ./. 1 899928 rs6677386 G C 290 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.1711,C/0.8289;PC=0.216;Gene=KLHL17/NM_198317.2/1;CC=c.1700+18G>C;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:86:50:0:0:85,1:2508,5:289.68,0.00:123.68,0.00:166.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:118.3,66.0:0,0:0,0:99,104:43,36:31,0:NM_198317.2(KLHL17) c.1700+18G>C,NM_198317.2(KLHL17) c.1700+18G>C:0.83,0.83:0.873607,0.873607 1 899937 rs143296006 G T 213 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.1679,T/0.8321;PC=0.106;Gene=KLHL17/NM_198317.2/1;CC=c.1700+27G>T;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:G,T:67:36:0:0:1,66:11,1838:0.00,213.00:0.00,67.79:0.00,145.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:125.0,150.9:0,0:0,0:99,89:52,57:0,19:NM_198317.2(KLHL17) c.1700+27G>T,NM_198317.2(KLHL17) c.1700+27G>T:0.76,0.76:0.866453,0.866453 1 899938 rs147467971 G C 227 nt VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.1679,C/0.8321,T/.;PC=0.038;Gene=KLHL17/NM_198317.2/1;CC=c.1700+28G>C;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C,G:68:37:0:0:66,2:1996,22:227.48,0.00:81.89,0.00:145.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:151.0,95.5:0,0:0,0:90,107:53,38:19,7:NM_198317.2(KLHL17) c.1700+28G>C,NM_198317.2(KLHL17) c.1700+28G>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 899942 rs71509448 G A 238 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.1975,A/0.8025;Gene=KLHL17/NM_198317.2/1;CC=c.1700+32G>A;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:A,G:68:37:0:0:66,2:2094,19:237.60,0.00:89.15,0.00:148.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:151.6,95.0:0,0:0,0:95,99:48,40:20,18:NM_198317.2(KLHL17) c.1700+32G>A,NM_198317.2(KLHL17) c.1700+32G>A:0.78,0.78:0.873848,0.873848 1 899989 rs6669071 A C 138 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.1615,C/0.8385;Gene=KLHL17/NM_198317.2/1;CC=c.1700+79A>C;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:C,G:42:18:0:0:41,1:1193,12:138.17,0.31:47.85,0.00:90.31,0.31:1.00,0.00:1.00,0.00:1.00,0.00:60,60:166.4,113.0:0,0:0,0:125,60:20,91:15,0:NM_198317.2(KLHL17) c.1700+79A>C,NM_198317.2(KLHL17) c.1700+79A>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 900000 . G GAA 33 nt VT=INS;SST=Single;DP=33;NP=5;PC=0.025;Gene=KLHL17/NM_198317.2/1;CC=c.1700+90_1700+91insAA;VC=Intron;DM=KLHL17/Kelch_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GAA:33:11:13:0:20,13:613,367:0.00,33.29:0.00,4.43:0.00,28.86:0.00,1.00:0.00,0.99:0.00,1.00:60,60:191.4,138.7:1,0:0,0:137,100:9,51:6,26:-,NM_198317.2(KLHL17) c.1700+90_1700+91insAA:-,NOT_FOUND:-,NOT_FOUND 1 900001 rs539995461 G A 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.1911,A/0.8089;DB;DBA=NA;PAF=NA;NP=10;PC=0.026;Gene=KLHL17/NM_198317.2/1;CC=c.1700+91G>A;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:8:0:0:17,13:538,435:52.99,0.00:9.45,0.00:43.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:202.1,140.8:0,13:0,0:136,104:8,46:11,27:NM_198317.2(KLHL17) c.1700+91G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 900009 rs371055706 CG G,C 36 idl,nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=5;PC=0.008;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:CG,G,C:22:4:0:12:1,9,12:29,247,339:0.00,25.23,36.10:0.00,2.65,4.61:0.00,22.58,31.49:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:164.0,190.2,136.6:0,9,0:0,0,0:147,128,110:1,23,40:0,9,24:NM_198317.2(KLHL17) c.1700+99delC,NM_198317.2(KLHL17) c.1700+100delG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 900010 rs558710007 G GC 30 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.1911,GC/0.8089,GGC/.;NP=6;PC=0.008;Gene=KLHL17/NM_198317.2/1;CC=c.1700+101dupC;VC=Intron;DM=KLHL17/Kelch_1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:GC:9:2:9:14:9:257:29.83:2.65:27.18:1.00:1.00:1.00:60:190.2:0:0:129:22:9:NM_198317.2(KLHL17) c.1700+100_1700+101insC,NM_198317.2(KLHL17) c.1700+100_1700+101insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 900103 . A C 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;Gene=KLHL17/NM_198317.2/1;CC=c.1700+193A>C;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,C:5:4:0:0:3,2:101,70:0.00,6.49:0.00,6.71:0.00,-0.22:0.00,0.46:0.00,0.87:0.00,0.60:60,24:53.3,166.5:0,0:0,0:133,13:17,133:1,2:-,NM_198317.2(KLHL17) c.1700+193A>C:-,NOT_FOUND:-,NOT_FOUND 1 900123 . CG C 7 nt VT=DEL;SST=Single;DP=5;Gene=KLHL17/NM_198317.2/1;CC=c.1700+214delG;VC=Intron;DM=KLHL17/Kelch_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:CG,G,C:5:4:0:3:1,1,3:35,13,68:0.00,0.99,7.14:0.00,-0.10,7.14:0.00,1.09,0.00:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.73:60,17,60:0.0,36.0,123.0:0,0,0:0,0,0:25,4,33:126,115,113:0,0,5:-,NM_198317.2(KLHL17) c.1700+214delG:-,NOT_FOUND:-,NOT_FOUND 1 900205 rs4970436 T C 66 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.8219,C/0.1781;PC=0.001;Gene=KLHL17/NM_198317.2/1;CC=c.1701-138T>C;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:36:30:0:0:1,21,14:7,663,391:-0.05,66.09,0.00:-0.04,50.77,0.00:-0.01,15.32,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:148.0,95.8,47.3:0,0,0:0,0,0:55,65,49:69,86,93:0,23,21:NM_198317.2(KLHL17) c.1701-138T>C,-:0.18,-:NOT_FOUND,- 1 900285 rs4970435 C T 247 nt VT=SNV;PN=G;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.2021,T/0.7979;Gene=KLHL17/NM_198317.2/1;CC=c.1701-58C>T;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:71:65:0:0:71:2131:246.80:206.91:39.89:1.00:1.00:1.00:60:89.0:0:0:40:110:25:NM_198317.2(KLHL17) c.1701-58C>T,NM_198317.2(KLHL17) c.1701-58C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 900286 rs4970434 A G 259 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.07049,G/0.9295;PC=0.002;Gene=KLHL17/NM_198317.2/1;CC=c.1701-57A>G;VC=Intron;DM=KLHL17/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:73:67:0:0:73:2246:259.22:216.33:42.90:1.00:1.00:1.00:60:87.4:0:0:41:107:25:NM_198317.2(KLHL17) c.1701-57A>G,NM_198317.2(KLHL17) c.1701-57A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 900505 rs28705211 G C 321 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=195;DB;DBA=NA;PAF=G/0.8313,C/0.1687;PC=0.998;Gene=KLHL17/NM_198317.2/1;CC=c.1863G>C;ProtCh=p.V621=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:195:120:0:0:104,90,1:3298,3039,9:321.15,0.00,-0.15:137.17,0.00,-0.05:183.98,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,7.6,74.0:0,0,0:0,0,0:92,75,75:50,72,76:27,31,0:NM_198317.2(KLHL17) c.1863G>C (p.(=)),-:0.16,-:NOT_FOUND,- 1 900572 . C . . NT END=901911;NT GT ./. 1 900717 rs374537094 CTTAT C 28 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=CTTAT/0.6294,C/0.3706;DB;DBA=NA;PAF=CTTAT/0.6294,C/0.3706;NP=66;Gene=KLHL17/NM_198317.2/1;CC=c.*152_*155delTATT;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTAT,C:39:0:0:11:28,11:939,332:0.00,28.37:0.00,0.00:0.00,28.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:31.3,38.0:0,0:0,0:102,61:49,90:31,41:-,NM_198317.2(KLHL17) c.*148TATT[1]:-,0.39:-,NOT_FOUND 1 900730 rs3935066 G A 128 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3526,A/0.6474;Gene=KLHL17/NM_198317.2/1;CC=c.*159G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:0:0:0:34:1122:128.38:0.00:128.38:1.00:0.00:1.00:60:37.1:11:0:105:45:30:NM_198317.2(KLHL17) c.*159G>A,NM_198317.2(KLHL17) c.*159G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 901995 . G . . NT END=902083;NT GT ./. 1 902184 . G . . NT END=905656;NT GT ./. 1 905804 . G . . NT END=905900;NT GT ./. 1 905982 . G . . NT END=906065;NT GT ./. 1 906387 . G . . NT END=906456;NT GT ./. 1 906589 . G . . NT END=906703;NT GT ./. 1 906785 . G . . NT END=907454;NT GT ./. 1 907531 . G . . NT END=907667;NT GT ./. 1 907805 . G . . NT END=908240;NT GT ./. 1 908391 . G . . NT END=908565;NT GT ./. 1 908707 . G . . NT END=908879;NT GT ./. 1 909021 . G . . NT END=909212;NT GT ./. 1 909073 rs3892467 C T 151 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.5821,T/0.4179;Gene=PLEKHN1/NM_001160184.1/0;CC=c.1329+53C>T;VC=Intron;Gene=PLEKHN1/NM_032129.2/1;CC=c.1434+53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A,G,T:49:28:0:0:1,1,47:11,10,1294:0.22,0.18,150.69:0.22,0.00,64.29:0.00,0.18,86.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:131.0,10.0,37.9:0,0,0:0,0,0:111,83,105:40,68,44:0,0,24:NM_032129.2(PLEKHN1) c.1434+53C>T,NM_032129.2(PLEKHN1) c.1434+53C>T:0.4,0.4:NOT_FOUND,NOT_FOUND 1 909238 rs3829740 G C 151 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.2234,C/0.7766;Gene=PLEKHN1/NM_001160184.1/0;CC=c.1355G>C;ProtCh=p.R452P;VC=Missense;Gene=PLEKHN1/NM_032129.2/1;CC=c.1460G>C;ProtCh=p.R487P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:81:61:0:0:1,46,34:11,1525,1039:-0.03,150.79,0.00:0.04,78.69,0.00:-0.07,72.11,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:183.0,37.6,8.2:0,0,0:0,0,0:37,69,48:112,76,83:0,35,32:NM_032129.2(PLEKHN1) c.1460G>C (p.Arg487Pro),-:0.74,-:0.650131,- 1 909432 . G . . NT END=909695;NT GT ./. 1 909555 rs2340594 A G 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.103,C/.,G/0.897;Gene=PLEKHN1/NM_001160184.1/0;CC=c.1548+124A>G;VC=Intron;Gene=PLEKHN1/NM_032129.2/1;CC=c.1653+124A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:7:0:0:23:711:82.06:23.84:58.23:1.00:1.00:1.00:60:56.1:0:0:81:66:40:NM_032129.2(PLEKHN1) c.1653+124A>G,NM_032129.2(PLEKHN1) c.1653+124A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 909680 rs199980201 C T 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.9992,T/0.0007987;NP=13;Gene=PLEKHN1/NM_001160184.1/0;CC=c.1549-16C>T;VC=Intron;Gene=PLEKHN1/NM_032129.2/1;CC=c.1654-16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:59:0:0:34,30:1113,890:0.00,84.04:0.00,70.88:0.00,13.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.2,54.1:0,0:0,0:56,51:88,93:22,30:-,NM_032129.2(PLEKHN1) c.1654-16C>T:-,0.0009:-,0.002461 1 909745 . G . . NT END=909821;NT GT ./. 1 909768 rs2340593 A G 336 nt VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.0003994,G/0.9996;Gene=PLEKHN1/NM_001160184.1/0;CC=c.1597+24A>G;VC=Intron;Gene=PLEKHN1/NM_032129.2/1;CC=c.1702+24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:95:81:0:0:95:2909:335.97:217.84:118.12:1.00:1.00:1.00:60:42.4:0:0:61:87:40:NM_032129.2(PLEKHN1) c.1702+24A>G,NM_032129.2(PLEKHN1) c.1702+24A>G:1,1:0.999846,0.999846 1 909956 . T . . NT END=911540;NT GT ./. 1 911595 rs7417106 A G 294 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.2897,G/0.7103;PC=0.002;Gene=PERM1/NM_001291366.1/0;CC=c.2330T>C;ProtCh=p.V777A;VC=Missense;Gene=PERM1/NM_001291367.1/1;CC=c.2048T>C;ProtCh=p.V683A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:57:0:0:82:2548:293.55:144.44:149.11:1.00:1.00:1.00:60:39.8:0:0:54:86:27:NR_027693.1(C1orf170) n.2024T>C,NR_027693.1(C1orf170) n.2024T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 911661 . G . . NT END=911821;NT GT ./. 1 912049 rs7367995 T C 371 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.4814,C/0.5186;Gene=PERM1/NM_001291366.1/0;CC=c.2150-45A>G;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-45A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:107:52:0:0:107:3209:371.32:118.22:253.10:1.00:1.00:1.00:70:61.3:0:0:98:39:25:NR_027693.1(C1orf170) n.1844-45A>G,NR_027693.1(C1orf170) n.1844-45A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 912062 . G . . NT END=914255;NT GT ./. 1 912088 . A C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;PC=0.001;Gene=PERM1/NM_001291366.1/0;CC=c.2150-84T>G;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-84T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,C:60:8:0:0:49,11:1178,228:0.00,15.76:0.00,13.12:0.00,2.64:0.00,1.00:0.00,0.76:0.00,1.00:70,60:73.9,85.8:0,0:0,0:108,107:38,6:22,14:-,NR_027693.1(C1orf170) n.1844-84T>G:-,NOT_FOUND:-,NOT_FOUND 1 912103 rs7366480 G A 189 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.007;Gene=PERM1/NM_001291366.1/0;CC=c.2150-99C>T;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-99C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:A,C,G:57:0:0:0:55,1,1:1649,5,32:188.56,0.03,0.00:0.00,0.00,0.00:188.56,0.03,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:70,70,70:81.9,206.0,83.0:0,0,0:0,0,0:117,97,101:34,54,26:19,0,0:NR_027693.1(C1orf170) n.1844-99C>T,NR_027693.1(C1orf170) n.1844-99C>T:0.48,0.48:NOT_FOUND,NOT_FOUND 1 912125 rs200215758 CG C 37 nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=5;PC=0.055;Gene=PERM1/NM_001291366.1/0;CC=c.2150-122delC;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-122delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,C:43:0:0:15:28,15:874,424:0.00,37.48:0.00,0.00:0.00,37.48:0.00,1.00:0.00,0.00:0.00,1.00:70,60:99.1,66.1:20,0:0,0:137,95:11,55:8,15:-,NR_027693.1(C1orf170) n.1844-122delC:-,0.22:-,NOT_FOUND 1 912126 . GC G 64 idl,nt VT=DEL;SST=Single;DP=21;NP=3;PC=0.056;Gene=PERM1/NM_001291366.1/0;CC=c.2150-123delG;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-123delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,G:21:0:0:34:2,19:38,557:2.82,63.92:0.00,0.00:2.82,63.92:0.00,1.00:0.00,0.00:0.00,1.00:60,70:136.5,105.8:1,0:0,0:132,135:16,14:17,7:NR_027693.1(C1orf170) n.1844-123delG,NR_027693.1(C1orf170) n.1844-123delG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 912127 . C A 29 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;NP=4;PC=0.056;Gene=PERM1/NM_001291366.1/0;CC=c.2150-123G>T;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-123G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,C:17:0:0:19:12,5:281,99:29.32,0.00:0.00,0.00:29.32,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:60.1,108.6:0,1:0,0:92,109:58,42:20,8:NR_027693.1(C1orf170) n.1844-123G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 912158 . GC G 53 nt VT=DEL;SST=Single;DP=17;NP=2;Gene=PERM1/NM_001291366.1/0;CC=c.2150-155delG;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-155delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:GC,G:17:0:0:16:1,16:29,473:0.00,53.27:0.00,0.00:0.00,53.27:0.00,1.00:0.00,0.00:0.00,1.00:70,60:194.0,73.0:0,0:0,0:150,127:-3,21:0,15:NR_027693.1(C1orf170) n.1844-155delG,NR_027693.1(C1orf170) n.1844-155delG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 912190 rs199943638 GC G 17 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PERM1/NM_001291366.1/0;CC=c.2150-187delG;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-187delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:5:5:150:17.38:0.00:17.38:1.00:0.00:1.00:60:47.6:0:0:132:19:10:NR_027693.1(C1orf170) n.1844-187delG,NR_027693.1(C1orf170) n.1844-187delG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 912286 . G A,C 11 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:13:A,C:6:0:0:0:5,1:95,22:11.38,1.90:0.00,0.00:11.38,1.90:0.99,0.00:0.00,0.00:0.99,0.00:60,16:106.8,250.0:0,0:0,0:46,49:67,82:2,0:NR_027693.1(C1orf170) n.1844-282C>T,NR_027693.1(C1orf170) n.1844-282C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 912318 . G A,C 7 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;NP=1;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:46:A,C,D:8:0:0:4:4,3,1:68,55,16:7.44,5.63,1.19:0.00,0.00,0.00:7.44,5.63,1.19:0.87,0.00,0.00:0.00,0.00,0.00:0.87,0.00,0.00:60,60,16:102.0,134.3,250.0:1,0,0:0,0,0:77,64,81:40,50,50:5,13,0:NR_027693.1(C1orf170) n.1844-314C>T,NR_027693.1(C1orf170) n.1844-314C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 912403 . G A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;NP=61;PC=0.080;Gene=PERM1/NM_001291366.1/0;CC=c.2150-399C>T;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1868-399C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:169:19.76:0.00:19.76:1.00:0.00:1.00:60:111.0:0:0:140:-25:9:NR_027693.1(C1orf170) n.1844-399C>T,NR_027693.1(C1orf170) n.1844-399C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 914192 rs2340595 G C 142 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.0645,C/0.9355;PC=0.009;Gene=PERM1/NM_001291366.1/0;CC=c.2149+69C>G;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.1867+69C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:36:0:0:37:1246:142.25:132.85:9.39:1.00:1.00:1.00:60:45.6:0:0:39:112:20:NR_027693.1(C1orf170) n.1843+69C>G,NR_027693.1(C1orf170) n.1843+69C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 914333 rs13302979 C G 490 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.4437,G/0.5563;PC=0.001;Gene=PERM1/NM_001291366.1/0;CC=c.2077G>C;ProtCh=p.E693Q;VC=Missense;Gene=PERM1/NM_001291367.1/1;CC=c.1795G>C;ProtCh=p.E599Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:135:107:0:0:1,134:7,4273:0.03,490.39:0.03,296.26:0.00,194.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:133.0,45.1:0,0:0,0:74,74:77,74:0,33:NR_027693.1(C1orf170) n.1771G>C,NR_027693.1(C1orf170) n.1771G>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 914852 rs13303368 G C 580 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=158;DB;DBA=NA;PAF=G/0.4874,C/0.5126;Gene=PERM1/NM_001291366.1/0;CC=c.1558C>G;ProtCh=p.Q520E;VC=Missense;Gene=PERM1/NM_001291367.1/1;CC=c.1276C>G;ProtCh=p.Q426E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:158:95:0:0:158:5051:580.08:255.02:325.06:1.00:1.00:1.00:60:72.4:0:0:78:68:35:NR_027693.1(C1orf170) n.1252C>G,NR_027693.1(C1orf170) n.1252C>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 914876 rs13302983 T C 480 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.03315,C/0.9669;Gene=PERM1/NM_001291366.1/0;CC=c.1534A>G;ProtCh=p.S512G;VC=Missense;Gene=PERM1/NM_001291367.1/1;CC=c.1252A>G;ProtCh=p.S418G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:144:84:0:0:142,2:4173,42:479.96,0.00:232.07,0.00:247.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.0,83.5:0,0:0,0:84,68:64,81:33,17:NR_027693.1(C1orf170) n.1228A>G,NR_027693.1(C1orf170) n.1228A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 914940 rs13303033 T C 515 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.4904,C/0.5096;Gene=PERM1/NM_001291366.1/0;CC=c.1470A>G;ProtCh=p.A490=;VC=Silent;Gene=PERM1/NM_001291367.1/1;CC=c.1188A>G;ProtCh=p.A396=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:144:86:0:0:143,1:4501,26:515.50,0.00:272.76,0.00:242.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,96.0:0,0:0,0:73,137:69,14:40,0:NR_027693.1(C1orf170) n.1164A>G,NR_027693.1(C1orf170) n.1164A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 915227 rs13303355 A G 648 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=177;DB;DBA=NA;PAF=A/0.08187,G/0.9181;Gene=PERM1/NM_001291366.1/0;CC=c.1183T>C;ProtCh=p.L395=;VC=Silent;Gene=PERM1/NM_001291367.1/1;CC=c.901T>C;ProtCh=p.L301=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:177:123:0:0:2,1,174:24,7,5690:0.00,0.02,647.50:0.00,0.02,380.41:0.00,0.00,267.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:159.0,35.0,44.2:0,0,0:0,0,0:96,145,80:54,6,69:43,0,44:NR_027693.1(C1orf170) n.877T>C,NR_027693.1(C1orf170) n.877T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 916416 . T . . NT END=916475;NT GT ./. 1 916549 rs6660139 A G 372 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.2414,G/0.7586;Gene=PERM1/NM_001291366.1/0;CC=c.-18-122T>C;VC=Intron;Gene=PERM1/NM_001291367.1/1;CC=c.58T>C;ProtCh=p.W20R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:102:53:0:0:1,101:8,3257:0.00,372.13:0.00,129.28:0.00,242.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:77.0,42.2:0,0:0,0:94,84:24,63:0,30:NR_027693.1(C1orf170) n.34T>C,NR_027693.1(C1orf170) n.34T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 916596 . C . . NT END=917411;NT GT ./. 1 916834 rs6694632 G A,C 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4469,A/0.5531 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C:4:0:0:0:3,1:95,9:10.56,0.78:0.00,0.00:10.56,0.78:0.85,0.00:0.00,0.00:0.85,0.00:60,60:31.7,29.0:0,0:0,0:123,12:28,139:9,0:NR_027693.1(C1orf170) n.30-281C>T,NR_027693.1(C1orf170) n.30-281C>G:0.57,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 917532 . T . . NT END=934438;NT GT ./. 1 934813 . C . . NT END=934905;NT GT ./. 1 934994 . C . . NT END=935071;NT GT ./. 1 935222 rs2298214 C A 771 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=222;DB;DBA=NA;PAF=C/0.5062,A/0.4938;Gene=HES4/NM_021170.3/1;CC=c.108+24G>T;VC=Intron;Gene=HES4/NM_001142467.1/0;CC=c.132G>T;ProtCh=p.R44S;VC=Missense;DM=HES4/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:222:153:0:0:220,2:6676,13:770.96,0.08:411.75,0.02:359.21,0.05:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,27.0:0,0:0,0:73,41:71,110:28,25:NM_001142467.1(HES4) c.132G>T (p.Arg44Ser),NM_001142467.1(HES4) c.132G>T (p.Arg44Ser):0.51,0.51:0.436702,0.436702 1 935354 . G . . NT END=948953;NT GT ./. 1 935459 rs3128113 A G 209 nt VT=SNV;PN=G;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.3229,G/0.6771;Gene=HES4/NM_021170.3/1;CC=c.-106T>C;VC=5UTR;Gene=HES4/NM_001142467.1/0;CC=c.-106T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:G:58:10:0:0:58:1816:209.11:21.61:187.51:1.00:1.00:1.00:60:62.6:0:0:113:35:23:NM_001142467.1(HES4) c.-106T>C,NM_001142467.1(HES4) c.-106T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 935492 rs3121571 G T 125 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.3229,T/0.6771;PC=0.594;Gene=HES4/NM_021170.3/1;CC=c.-139C>A;VC=5UTR;Gene=HES4/NM_001142467.1/0;CC=c.-139C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:0:0:0:35:1082:124.83:0.00:124.83:1.00:0.00:1.00:60:77.5:0:0:95:56:31:NM_001142467.1(HES4) c.-139C>A,NM_001142467.1(HES4) c.-139C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 943468 rs3121567 T C 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1062,C/0.8938;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:10:0:0:11:377:42.95:33.30:9.64:1.00:1.00:1.00:60:51.5:0:0:65:86:23:NM_005101.3(ISG15) c.-107-u5379T>C,NM_005101.3(ISG15) c.-107-u5379T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 948846 rs397824197 T TA 70 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1456,TA/0.8544;DB;DBA=NA;PAF=T/0.1456,TA/0.8544;NP=2678;Gene=ISG15/NM_005101.3/1;CC=c.-107dupA;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T,TA:21:21:20:0:1,20:19,625:0.00,70.32:0.00,60.98:0.00,9.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:71.0,61.0:0,0:0,0:145,36:2,115:0,21:NM_005101.3(ISG15) c.-107-u1_-107insA,NM_005101.3(ISG15) c.-107-u1_-107insA:0.86,0.86:NOT_FOUND,NOT_FOUND 1 948870 rs4615788 C G 107 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.09704,G/0.903;Gene=ISG15/NM_005101.3/1;CC=c.-84C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:30:0:0:31:921:106.70:76.78:29.91:1.00:1.00:1.00:60:63.8:0:0:32:117:25:NM_005101.3(ISG15) c.-84C>G,NM_005101.3(ISG15) c.-84C>G:0.9,0.9:0.889845,0.889845 1 948921 rs15842 T C 166 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.09685,C/0.9032,G/.;Gene=ISG15/NM_005101.3/1;CC=c.-33T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:C:44:37:0:0:44:1450:165.92:102.04:63.89:1.00:1.00:1.00:60:62.1:0:0:57:88:29:NM_005101.3(ISG15) c.-33T>C,NM_005101.3(ISG15) c.-33T>C:0.9,0.9:0.885787,0.885787 1 948957 . G . . NT END=949363;NT GT ./. 1 949235 rs2465124 G A 170 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.1002,A/0.8998;Gene=ISG15/NM_005101.3/1;CC=c.4-129G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:42:0:0:47:1476:169.93:136.89:33.04:1.00:1.00:1.00:60:41.2:0:0:46:105:29:NM_005101.3(ISG15) c.4-129G>A,NM_005101.3(ISG15) c.4-129G>A:0.89,0.89:NOT_FOUND,NOT_FOUND 1 949654 rs8997 A G 675 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=181;DB;DBA=NA;PAF=A/0.1743,G/0.8257,T/.;Gene=ISG15/NM_005101.3/1;CC=c.294A>G;ProtCh=p.V98=;VC=Silent;DM=ISG15/ubiquitin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:181:109:0:0:181:5890:674.75:318.67:356.08:1.00:1.00:1.00:60:42.9:0:0:67:78:39:NM_005101.3(ISG15) c.294A>G (p.(=)),NM_005101.3(ISG15) c.294A>G (p.(=)):0.82,0.82:0.820363,0.820363 1 949859 . G . . NT END=955552;NT GT ./. 1 949925 rs2799070 C T 219 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.1272,T/0.8728;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:T:58:19:0:0:58:1918:219.43:45.04:174.38:1.00:1.00:1.00:60:44.6:0:0:106:39:29:NM_198576.3(AGRN) c.-50-u5578C>T,NM_198576.3(AGRN) c.-50-u5578C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 1 955440 . GC G 39 sb,rn VT=DEL;SST=Single;DP=13;NP=61;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GC,G:12:13:0:13:1,11:27,387:0.00,39.34:0.00,37.43:0.00,1.90:0.00,1.00:0.00,1.00:0.00,0.90:60,60:0.0,37.1:0,1:0,0:107,26:10,116:0,12:NM_198576.3(AGRN) c.-50-u62delC,NM_198576.3(AGRN) c.-50-u62delC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 955754 . G . . NT END=957580;NT GT ./. 1 957843 . G . . NT END=969485;NT GT ./. 1 957967 rs141489152 T TTGTAGTCTGACCTGTGGTCTGAC 39 sb,nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.1074,TGAC/.,TTGTAGTCTGACCTGTGGTCTGAC/0.8926;NP=2;NP=2;Gene=AGRN/NM_001305275.1/1;CC=c.463+128_463+129insAGTCTGACCTGTGGTCTGACTGT;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.463+128_463+129insAGTCTGACCTGTGGTCTGACTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTGTAGTCTGACCTGTGGTCTGAC:29:5:13:0:16,13:516,416:0.00,39.14:0.00,0.86:0.00,38.28:0.00,1.00:0.00,0.94:0.00,1.00:60,60:21.4,5.5:0,0:0,0:133,66:4,85:9,19:-,NM_198576.3(AGRN) c.463+125_463+126insTGTAGTCTGACCTGTGGTCTGAC:-,NOT_FOUND:-,NOT_FOUND 1 970084 . G . . NT END=970656;NT GT ./. 1 970215 rs9442364 G C 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4513,C/0.5487;Gene=AGRN/NM_001305275.1/1;CC=c.464-442G>C;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.464-442G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:0:0:0:20:545:63.97:0.00:63.97:1.00:0.00:1.00:60:41.7:0:0:125:25:23:NM_198576.3(AGRN) c.464-442G>C,NM_198576.3(AGRN) c.464-442G>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 970549 rs70949545 TGG T 18 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=AGRN/NM_001305275.1/1;CC=c.464-96_464-95delGG;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.464-96_464-95delGG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:TGG,T:11:13:0:9:5,6:114,244:0.00,17.91:0.00,17.91:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:33.6,53.8:0,2:0,0:76,25:38,116:17,9:-,NM_198576.3(AGRN) c.464-107_464-106delGG:-,NOT_FOUND:-,NOT_FOUND 1 970705 . G . . NT END=976044;NT GT ./. 1 976261 . G . . NT END=976552;NT GT ./. 1 976428 rs113660126 C A 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=94;Gene=AGRN/NM_001305275.1/1;CC=c.728-125C>A;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.728-125C>A;VC=Intron;DM=AGRN/Laminin_G_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:28:0:0:28:810:94.21:94.21:0.00:1.00:1.00:0.00:60:67.3:0:0:40:111:16:NM_198576.3(AGRN) c.728-125C>A,NM_198576.3(AGRN) c.728-125C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 976481 . CGGAGCGGGGCG C 131 sb,nt VT=DEL;SST=Single;DP=46;Gene=AGRN/NM_001305275.1/1;CC=c.728-51_728-41delCGGGAGCGGGG;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.728-51_728-41delCGGGAGCGGGG;VC=Intron;DM=AGRN/Laminin_G_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:CGGAGCGGGGCG,C:46:46:0:40:6,40:132,1198:0.00,131.30:0.00,129.49:0.00,1.81:0.00,1.00:0.00,1.00:0.00,0.91:60,70:71.0,53.4:0,0:0,0:122,48:17,103:9,27:-,NM_198576.3(AGRN) c.728-71_728-61delGGAGCGGGGCG:-,NOT_FOUND:-,NOT_FOUND 1 976514 rs79290478 C A,G 168 nt VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;DM=AGRN/Laminin_G_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:23:A,G,T:62:53:0:0:53,8,1:1465,147,11:167.80,11.66,0.19:144.95,1.19,0.00:22.85,10.47,0.19:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:70,60,60:46.1,32.8,84.0:0,0,0:0,0,0:45,22,47:101,111,62:33,16,0:NM_198576.3(AGRN) c.728-39C>A,NM_198576.3(AGRN) c.728-39C>G:0.86,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 976778 . G . . NT END=976857;NT GT ./. 1 977083 . G . . NT END=977335;NT GT ./. 1 977203 rs3121552 G C 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.1032,C/0.8968;Gene=AGRN/NM_001305275.1/1;CC=c.1177+121G>C;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.1177+121G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:9:0:0:15:429:49.99:29.96:20.03:1.00:1.00:1.00:60:69.0:0:0:45:106:28:NM_198576.3(AGRN) c.1177+121G>C,NM_198576.3(AGRN) c.1177+121G>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 977330 rs2799066 T C 254 nt VT=SNV;PN=G;NN=C;SST=Single;DP=67;DB;DBA=in-clinvar;PAF=T/0.1148,C/0.8852;Gene=AGRN/NM_001305275.1/1;CC=c.1178-6T>C;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.1178-6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:59:0:0:67:2222:254.04:183.76:70.28:1.00:1.00:1.00:60:44.0:0:0:69:82:31:NM_198576.3(AGRN) c.1178-6T>C,NM_198576.3(AGRN) c.1178-6T>C:0.89,0.89:0.852593,0.852593 1 977543 . G . . NT END=978618;NT GT ./. 1 977570 rs2710876 G A 337 nt VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.2059,A/0.7941;Gene=AGRN/NM_001305275.1/1;CC=c.1384+28G>A;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.1384+28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:89:40:0:0:88,1:2972,11:337.29,0.00:89.48,0.00:247.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,48.0:0,0:0,0:105,115:39,28:21,0:NM_198576.3(AGRN) c.1384+28G>A,NM_198576.3(AGRN) c.1384+28G>A:0.81,0.81:0.774115,0.774115 1 977780 rs2710875 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1935,T/0.8065;Gene=AGRN/NM_001305275.1/1;CC=c.1384+238C>T;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.1384+238C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:34.7:0:0:107:43:9:NM_198576.3(AGRN) c.1384+238C>T,NM_198576.3(AGRN) c.1384+238C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 978603 rs35881187 CCT C 294 nt VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=CCT/0.5208,C/0.4792;NP=1333;Gene=AGRN/NM_001305275.1/1;CC=c.1385-15_1385-14delCT;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.1385-15_1385-14delCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:CCT,C:84:74:0:83:1,83:32,2564:0.00,293.59:0.00,212.39:0.00,81.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,13.5:0,0:0,0:144,51:1,95:0,25:NM_198576.3(AGRN) c.1385-15_1385-14delCT,NM_198576.3(AGRN) c.1385-15_1385-14delCT:0.51,0.51:0.399407,0.399407 1 978838 . G . . NT END=978917;NT GT ./. 1 979113 . G . . NT END=979202;NT GT ./. 1 979404 . G . . NT END=979488;NT GT ./. 1 979638 . G . . NT END=979713;NT GT ./. 1 979820 . G . . NT END=980540;NT GT ./. 1 980460 rs3128097 G A 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.08806,A/0.9119;PC=0.029;Gene=AGRN/NM_001305275.1/1;CC=c.2255-81G>A;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.2255-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A:33:29:0:0:33:1045:120.16:92.42:27.74:1.00:1.00:1.00:60:37.3:0:0:43:108:27:NM_198576.3(AGRN) c.2255-81G>A,NM_198576.3(AGRN) c.2255-81G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 1 980658 . G . . NT END=980738;NT GT ./. 1 980904 . G . . NT END=981112;NT GT ./. 1 981087 rs3128098 A G 338 nt VT=SNV;PN=C;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.1306,G/0.8694;Gene=AGRN/NM_001305275.1/1;CC=c.2537-26A>G;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.2537-26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:94:67:0:0:94:2937:338.23:199.44:138.78:1.00:1.00:1.00:60:37.9:0:0:50:100:39:NM_198576.3(AGRN) c.2537-26A>G,NM_198576.3(AGRN) c.2537-26A>G:0.87,0.87:0.832078,0.832078 1 981257 . G . . NT END=981343;NT GT ./. 1 981469 . G . . NT END=981539;NT GT ./. 1 981646 . G . . NT END=981776;NT GT ./. 1 981931 rs2465128 A G 338 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=A/0.2023,G/0.7977;Gene=AGRN/NM_001305275.1/1;CC=c.3066A>G;ProtCh=p.S1022=;VC=Silent;Gene=AGRN/NM_198576.3/0;CC=c.3066A>G;ProtCh=p.S1022=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:96:56:0:0:96:2924:337.75:147.36:190.39:1.00:1.00:1.00:60:43.6:0:0:54:85:31:NM_198576.3(AGRN) c.3066A>G (p.(=)),NM_198576.3(AGRN) c.3066A>G (p.(=)):0.82,0.82:0.780216,0.780216 1 982116 . G . . NT END=982199;NT GT ./. 1 982338 . G . . NT END=982706;NT GT ./. 1 982444 rs3128099 A G 160 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.1781,G/0.8219;PC=0.001;Gene=AGRN/NM_001305275.1/1;CC=c.3388+107A>G;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.3388+107A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:17:0:0:44:1395:160.40:49.25:111.15:1.00:1.00:1.00:60:90.4:0:0:71:77:40:NM_198576.3(AGRN) c.3388+107A>G,NM_198576.3(AGRN) c.3388+107A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 982462 rs3128100 T C 138 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.01917,C/0.9808;Gene=AGRN/NM_001305275.1/1;CC=c.3388+125T>C;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.3388+125T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:C,T:41:16:0:0:40,1:1211,33:137.91,0.00:45.45,0.00:92.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:97.7,68.0:0,0:0,0:81,32:69,119:43,0:NM_198576.3(AGRN) c.3388+125T>C,NM_198576.3(AGRN) c.3388+125T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 982513 rs3128101 T C 157 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.07129,C/0.9287;Gene=AGRN/NM_001305275.1/1;CC=c.3388+176T>C;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.3388+176T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:23:0:0:43:1365:156.94:87.22:69.72:1.00:1.00:1.00:60:76.5:0:0:72:79:45:NM_198576.3(AGRN) c.3388+176T>C,NM_198576.3(AGRN) c.3388+176T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 982835 . G . . NT END=982952;NT GT ./. 1 982941 rs3128102 T C 414 nt VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.2001,A/.,C/0.7999;Gene=AGRN/NM_001305275.1/1;CC=c.3517-12T>C;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.3517-12T>C;VC=Intron;DM=AGRN/SEA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:113:62:0:0:113:3601:413.86:189.34:224.52:1.00:1.00:1.00:60:61.2:0:0:68:82:37:NM_198576.3(AGRN) c.3517-12T>C,NM_198576.3(AGRN) c.3517-12T>C:0.82,0.82:0.766574,0.766574 1 982994 rs10267 T C 481 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=132;DB;DBA=in-clinvar;PAF=T/0.1641,C/0.8359;PC=0.405;Gene=AGRN/NM_001305275.1/1;CC=c.3558T>C;ProtCh=p.F1186=;VC=Silent;Gene=AGRN/NM_198576.3/0;CC=c.3558T>C;ProtCh=p.F1186=;VC=Silent;DM=AGRN/SEA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:132:76:0:0:1,131:12,4188:0.13,480.58:0.00,236.31:0.13,244.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:55.0,58.4:0,0:0,0:80,72:70,73:0,36:NM_198576.3(AGRN) c.3558T>C (p.(=)),NM_198576.3(AGRN) c.3558T>C (p.(=)):0.84,0.84:0.791173,0.791173 1 983068 . G . . NT END=983155;NT GT ./. 1 983276 . G . . NT END=983391;NT GT ./. 1 983746 . G . . NT END=984246;NT GT ./. 1 984147 rs57668569 CAAAAAAAAAAA C 91 idl,nt VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=CAAAAAAAAAAA/0.07947,C/0.9205;DB;DBA=NA;PAF=CAAAAAAAAAAA/0.07947,C/0.9205;DB;DBA=NA;PAF=CAAAAAAAAAAA/0.07947,C/0.9205;NP=4;PC=0.037;Gene=AGRN/NM_001305275.1/1;CC=c.4106-88_4106-78delAAAAAAAAAAA;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.4106-88_4106-78delAAAAAAAAAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAAAAAAAAAAA,C:41:48:0:37:12,29:392,1127:0.00,90.55:0.00,83.12:0.00,7.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,15.2:0,43:0,0:129,41:12,110:7,18:-,NM_198576.3(AGRN) c.4106-99_4106-89delAAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 984171 rs140904842 CAG C 181 idl,nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=CAG/0.07947,C/0.9205;NP=90;PC=0.010;Gene=AGRN/NM_001305275.1/1;CC=c.4106-75_4106-74delAG;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.4106-75_4106-74delAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C:51:48:0:52:51:1564:180.70:151.59:29.11:1.00:1.00:1.00:60:18.3:36:0:41:108:17:NM_198576.3(AGRN) c.4106-75_4106-74delAG,NM_198576.3(AGRN) c.4106-75_4106-74delAG:0.53,0.53:NOT_FOUND,NOT_FOUND 1 984302 rs9442391 T C 521 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=143;DB;DBA=in-clinvar;PAF=T/0.4543,C/0.5457;PC=0.002;Gene=AGRN/NM_001305275.1/1;CC=c.4161T>C;ProtCh=p.T1387=;VC=Silent;Gene=AGRN/NM_198576.3/0;CC=c.4161T>C;ProtCh=p.T1387=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:143:106:0:0:143:4531:521.17:260.18:260.99:1.00:1.00:1.00:60:38.8:0:0:64:86:37:NM_198576.3(AGRN) c.4161T>C (p.(=)),NM_198576.3(AGRN) c.4161T>C (p.(=)):0.57,0.57:0.458626,0.458626 1 984440 . G . . NT END=984615;NT GT ./. 1 984494 rs558237106 GC G 118 nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=GC/0.2624,G/0.7376;NP=8;Gene=AGRN/NM_001305275.1/1;CC=c.4298+56delC;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.4298+56delC;VC=Intron;DM=AGRN/Laminin_G_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:53:47:0:40:14,39:367,1131:0.00,118.47:0.00,114.98:0.00,3.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.5,41.3:1,0:0,0:145,89:5,59:2,45:-,NM_198576.3(AGRN) c.4298+56delC:-,NOT_FOUND:-,NOT_FOUND 1 984495 rs368088288 C G 37 idl;end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=3;Gene=AGRN/NM_001305275.1/1;CC=c.4298+56C>G;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.4298+56C>G;VC=Intron;DM=AGRN/Laminin_G_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:8:0:44:12:313:36.95:22.65:14.31:1.00:1.00:1.00:60:47.5:1:0:146:4:2:NM_198576.3(AGRN) c.4298+56C>G,NM_198576.3(AGRN) c.4298+56C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 984832 . G . . NT END=984945;NT GT ./. 1 985176 . G . . NT END=985282;NT GT ./. 1 985266 rs2275813 C T 306 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.5048,T/0.4952;PC=0.675;Gene=AGRN/NM_001305275.1/1;CC=c.4745-17C>T;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.4745-17C>T;VC=Intron;DM=AGRN/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:84:58:0:0:84:2665:306.29:178.08:128.21:1.00:1.00:1.00:60:50.5:0:0:64:81:41:NM_198576.3(AGRN) c.4745-17C>T,NM_198576.3(AGRN) c.4745-17C>T:0.53,0.53:0.402223,0.402223 1 985418 . G . . NT END=985612;NT GT ./. 1 985446 rs2275812 G T 178 nt VT=SNV;PN=G;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.6645,T/0.3355;Gene=AGRN/NM_001305275.1/1;CC=c.4879+29G>T;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.4879+29G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,C,G,T:84:45:0:0:1,3,13,67:11,24,272,1618:0.08,0.36,0.00,177.74:0.13,0.33,0.00,97.08:-0.05,0.02,0.00,80.66:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:122.0,112.3,70.1,77.9:0,0,3,0:0,0,0,0:125,126,87,103:13,25,43,47:0,7,33,15:-,NM_198576.3(AGRN) c.4879+29G>T:-,0.31:-,NOT_FOUND 1 985449 rs2799067 G A 215 nt VT=SNV;PN=G;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.4744,A/0.5256;Gene=AGRN/NM_001305275.1/1;CC=c.4879+32G>A;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.4879+32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,C,G,T:86:45:0:0:73,1,11,1:1942,7,198,10:214.71,-0.00,0.00,0.06:117.58,-0.01,0.00,-0.01:97.13,0.01,0.00,0.07:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:78.0,49.0,75.1,139.0:0,0,3,0:0,0,0,0:106,55,90,90:44,52,51,22:20,0,38,0:NM_198576.3(AGRN) c.4879+32G>A,-:0.47,-:NOT_FOUND,- 1 985710 . G . . NT END=985806;NT GT ./. 1 985972 . G . . NT END=986105;NT GT ./. 1 986218 . G . . NT END=986411;NT GT ./. 1 986424 . G . . NT END=986632;NT GT ./. 1 986443 rs2710887 C T 267 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.2115,T/0.7885;Gene=AGRN/NM_001305275.1/1;CC=c.5254-179C>T;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.5254-190C>T;VC=Intron;DM=AGRN/Laminin_G_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:73:44:0:0:1,72:14,2352:0.00,267.43:0.00,127.15:0.00,140.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:219.0,43.3:0,0:0,0:65,98:84,44:0,30:NM_198576.3(AGRN) c.5254-190C>T,NM_198576.3(AGRN) c.5254-190C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 986750 . G . . NT END=986832;NT GT ./. 1 987026 . G . . NT END=987107;NT GT ./. 1 987196 . G . . NT END=987372;NT GT ./. 1 987200 rs9803031 C T 337 nt VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=in-clinvar;PAF=C/0.2113,T/0.7887;PC=0.099;Gene=AGRN/NM_001305275.1/1;CC=c.5662+5C>T;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.5651+5C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:94:46:0:0:94:2927:337.21:123.22:213.99:1.00:1.00:1.00:60:44.3:0:0:89:57:33:NM_198576.3(AGRN) c.5651+5C>T,NM_198576.3(AGRN) c.5651+5C>T:0.81,0.81:0.756923,0.756923 1 987397 . G . . NT END=988840;NT GT ./. 1 988874 . G . . NT END=989132;NT GT ./. 1 988932 rs2710871 G C 256 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=AGRN/NM_001305275.1/1;CC=c.5719+59G>C;VC=Intron;Gene=AGRN/NM_198576.3/0;CC=c.5652-201G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:35:0:0:67:2242:256.08:89.02:167.06:1.00:1.00:1.00:60:37.7:0:0:98:47:30:NM_198576.3(AGRN) c.5652-201G>C,NM_198576.3(AGRN) c.5652-201G>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 989358 . G . . NT END=989827;NT GT ./. 1 989932 . G . . NT END=990203;NT GT ./. 1 990280 rs4275402 C T 570 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=155;DB;DBA=in-clinvar;PAF=C/0.4147,T/0.5853;PC=0.004;Gene=AGRN/NM_001305275.1/1;CC=c.6125C>T;ProtCh=p.T2042M;VC=Missense;Gene=AGRN/NM_198576.3/0;CC=c.6057C>T;ProtCh=p.D2019=;VC=Silent;DM=AGRN/Laminin_G_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:155:118:0:0:1,154:6,4984:0.00,570.34:0.00,296.62:0.00,273.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,38.8:0,0:0,0:15,54:136,87:0,32:NM_198576.3(AGRN) c.6057C>T (p.(=)),NM_198576.3(AGRN) c.6057C>T (p.(=)):0.62,0.62:0.579155,0.579155 1 990362 . G . . NT END=1007196;NT GT ./. 1 990517 rs2710872 C T 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.08207,T/0.9179;PC=0.001;Gene=AGRN/NM_001305275.1/1;CC=c.*156C>T;VC=3UTR;Gene=AGRN/NM_198576.3/0;CC=c.*156C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:0:0:0:30:916:105.82:0.00:105.82:1.00:0.00:1.00:60:41.9:0:0:96:54:26:NM_198576.3(AGRN) c.*156C>T,NM_198576.3(AGRN) c.*156C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 1006990 rs4326571 G A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1837,A/0.8163 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:221:25.85:25.85:0.00:1.00:1.00:0.00:60:46.2:0:0:45:104:39:chr1 g.1006989G>A (intergenic),chr1 g.1006989G>A (intergenic):0.8,0.8:NOT_FOUND,NOT_FOUND 1 1007203 rs4633229 A G 360 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.1587,G/0.8413;Gene=RNF223/NM_001205252.1/1;CC=c.744T>C;ProtCh=p.D248=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:96:84:0:0:96:3143:359.92:272.80:87.12:1.00:1.00:1.00:60:50.4:0:0:59:82:38:NM_001205252.1(RNF223) c.744T>C (p.(=)),NM_001205252.1(RNF223) c.744T>C (p.(=)):0.83,0.83:NOT_FOUND,NOT_FOUND 1 1007432 rs4333796 G A 621 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=G/0.4679,A/0.5321;Gene=RNF223/NM_001205252.1/1;CC=c.515C>T;ProtCh=p.A172V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:176:113:0:0:175,1:5396,10:620.73,0.00:309.23,0.00:311.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,159.0:0,0:0,0:92,64:58,87:30,0:NM_001205252.1(RNF223) c.515C>T (p.Ala172Val),NM_001205252.1(RNF223) c.515C>T (p.Ala172Val):0.57,0.57:NOT_FOUND,NOT_FOUND 1 1007947 . G . . NT END=1018272;NT GT ./. 1 1018144 rs9442395 T C 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4623,C/0.5377;Gene=C1orf159/NM_017891.4/1;CC=c.*129A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:300:34.74:34.74:0.00:1.00:1.00:0.00:60:55.7:0:0:33:116:25:NM_017891.4(C1orf159) c.*129A>G,NM_017891.4(C1orf159) c.*129A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 1018368 . C . . NT END=1019294;NT GT ./. 1 1018562 rs9442371 C T 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4698,T/0.5302;Gene=C1orf159/NM_017891.4/1;CC=c.503-195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:305:34.79:0.00:34.79:1.00:0.00:1.00:60:46.7:0:0:97:54:26:NM_017891.4(C1orf159) c.503-195G>A,NM_017891.4(C1orf159) c.503-195G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 1019175 rs2298215 C G 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.2971,G/0.7029;Gene=C1orf159/NM_017891.4/1;CC=c.502+558G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:17:0:0:17:488:56.84:56.84:0.00:1.00:1.00:0.00:60:92.0:0:0:65:86:47:NM_017891.4(C1orf159) c.502+558G>C,NM_017891.4(C1orf159) c.502+558G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 1019180 rs9442396 T C 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.3994,C/0.6006;Gene=C1orf159/NM_017891.4/1;CC=c.502+553A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A,C,G:18:18:0:0:1,16,1:11,480,5:0.46,54.79,0.12:0.46,54.79,0.12:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:192.0,76.7,183.0:0,0,0:0,0,0:71,55,23:41,95,96:0,45,0:NM_017891.4(C1orf159) c.502+553A>G,NM_017891.4(C1orf159) c.502+553A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 1019764 . C . . NT END=1019860;NT GT ./. 1 1019887 . C . . NT END=1021257;NT GT ./. 1 1021393 . C . . NT END=1022518;NT GT ./. 1 1021415 rs3737728 A G 233 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.1873,G/0.8127;Gene=C1orf159/NM_017891.4/1;CC=c.311-23T>C;VC=Intron;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G,T:67:39:0:0:66,1:2020,33:232.94,1.96:94.07,0.00:138.87,1.96:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,33.0:0,0:0,0:78,138:66,13:31,0:NM_017891.4(C1orf159) c.311-23T>C,NM_017891.4(C1orf159) c.311-23T>C:0.8,0.8:0.739997,0.739997 1 1021695 rs9442398 A G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2728,G/0.7272;Gene=C1orf159/NM_017891.4/1;CC=c.311-303T>C;VC=Intron;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:170:19.38:0.00:19.38:1.00:0.00:1.00:60:34.0:0:0:127:22:11:NM_017891.4(C1orf159) c.311-303T>C,NM_017891.4(C1orf159) c.311-303T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 1022585 . C . . NT END=1022881;NT GT ./. 1 1022978 . C . . NT END=1025732;NT GT ./. 1 1025809 . C . . NT END=1026255;NT GT ./. 1 1026364 . C . . NT END=1026851;NT GT ./. 1 1026707 rs4074137 C A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.373,A/0.627;Gene=C1orf159/NM_017891.4/1;CC=c.72+145G>T;VC=Intron;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:305:34.79:34.79:0.00:1.00:1.00:0.00:60:52.7:0:0:44:107:24:NM_017891.4(C1orf159) c.72+145G>T,NM_017891.4(C1orf159) c.72+145G>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 1026801 rs4562563 T A 129 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.3734,A/0.6266;Gene=C1orf159/NM_017891.4/1;CC=c.72+51A>T;VC=Intron;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501;DM=C1orf159/DUF4501 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:32:0:0:35:1123:128.95:104.40:24.55:1.00:1.00:1.00:60:43.0:0:0:49:100:23:NM_017891.4(C1orf159) c.72+51A>T,NM_017891.4(C1orf159) c.72+51A>T:0.65,0.65:0.555507,0.555507 1 1026924 . G . . NT END=1114595;NT GT ./. 1 1114714 . G . . NT END=1115036;NT GT ./. 1 1115234 . G . . NT END=1115413;NT GT ./. 1 1115721 . G . . NT END=1115862;NT GT ./. 1 1115982 . G . . NT END=1116110;NT GT ./. 1 1116241 . G . . NT END=1117120;NT GT ./. 1 1117196 . G . . NT END=1117740;NT GT ./. 1 1117827 . G . . NT END=1118255;NT GT ./. 1 1118428 . G . . NT END=1119299;NT GT ./. 1 1119472 . G . . NT END=1120348;NT GT ./. 1 1121245 . g . . NT END=1131979;NT GT ./. 1 1132097 . G . . NT END=1132472;NT GT ./. 1 1132567 . G . . NT END=1132817;NT GT ./. 1 1133228 . G . . NT END=1138969;NT GT ./. 1 1139617 . C . . NT END=1139777;NT GT ./. 1 1139867 . C . . NT END=1140748;NT GT ./. 1 1140873 . C . . NT END=1141763;NT GT ./. 1 1141952 . G . . NT END=1146934;NT GT ./. 1 1147213 . C . . NT END=1147321;NT GT ./. 1 1147519 . C . . NT END=1148017;NT GT ./. 1 1148085 . C . . NT END=1148371;NT GT ./. 1 1149166 . C . . NT END=1149362;NT GT ./. 1 1149663 . G . . NT END=1152891;NT GT ./. 1 1153185 . C . . NT END=1153837;NT GT ./. 1 1154014 . C . . NT END=1154148;NT GT ./. 1 1156111 . C . . NT END=1158623;NT GT ./. 1 1158631 rs6603781 A G 216 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.04673,G/0.9533;PC=0.673;Gene=SDF4/NM_016176.3/0;CC=c.570T>C;ProtCh=p.D190=;VC=Silent;Gene=SDF4/NM_016547.2/1;CC=c.570T>C;ProtCh=p.D190=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:G:61:54:0:0:61:1874:216.24:140.18:76.06:1.00:1.00:1.00:60:34.6:0:0:38:107:21:NM_016547.2(SDF4) c.570T>C (p.(=)),NM_016547.2(SDF4) c.570T>C (p.(=)):0.94,0.94:0.91996,0.91996 1 1158738 . C . . NT END=1159211;NT GT ./. 1 1159349 . C . . NT END=1163847;NT GT ./. 1 1159517 rs6702268 T C 195 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.02596,C/0.974;Gene=SDF4/NM_016176.3/0;CC=c.327-169A>G;VC=Intron;Gene=SDF4/NM_016547.2/1;CC=c.327-169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:C:58:10:0:0:58:1677:194.72:21.86:172.86:1.00:1.00:1.00:60:38.5:0:0:105:46:37:NM_016547.2(SDF4) c.327-169A>G,NM_016547.2(SDF4) c.327-169A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 1164174 . G . . NT END=1167658;NT GT ./. 1 1168649 . G . . NT END=1177927;NT GT ./. 1 1178027 . C . . NT END=1178214;NT GT ./. 1 1178294 . C . . NT END=1178441;NT GT ./. 1 1178533 . C . . NT END=1178823;NT GT ./. 1 1178933 . C . . NT END=1179333;NT GT ./. 1 1179486 . C . . NT END=1179570;NT GT ./. 1 1179656 . C . . NT END=1179760;NT GT ./. 1 1179878 . C . . NT END=1181893;NT GT ./. 1 1182071 . G . . NT END=1190582;NT GT ./. 1 1190868 . C . . NT END=1191424;NT GT ./. 1 1191506 . C . . NT END=1192371;NT GT ./. 1 1192268 . GA G 11 idl,rn VT=DEL;SST=Single;DP=29;PC=0.607;Gene=UBE2J2/NM_058167.2/0;CC=c.414+103delT;VC=Intron;Gene=UBE2J2/NM_194315.1/1;CC=c.462+103delT;VC=Intron;Gene=UBE2J2/NM_194457.1/0;CC=c.258+103delT;VC=Intron;Gene=UBE2J2/NM_194458.1/0;CC=c.258+103delT;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:GA,I,G:23:29:9:6:15,4,4:470,289,162:0.00,10.31,10.51:0.00,10.31,10.51:0.00,0.00,0.00:0.00,0.00,0.65:0.00,0.00,0.65:0.00,0.00,0.00:60,60,60:24.3,143.2,19.8:0,5,1:0,0,0:45,9,38:106,123,113:39,7,12:-,NM_194315.1(UBE2J2) c.462+103delT:-,NOT_FOUND:-,NOT_FOUND 1 1192511 . C . . NT END=1192587;NT GT ./. 1 1192691 . C . . NT END=1198725;NT GT ./. 1 1192770 . G C 13 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;NP=3;Gene=UBE2J2/NM_058167.2/0;CC=c.173-80C>G;VC=Intron;Gene=UBE2J2/NM_194315.1/1;CC=c.221-80C>G;VC=Intron;Gene=UBE2J2/NM_194457.1/0;CC=c.17-80C>G;VC=Intron;Gene=UBE2J2/NM_194458.1/0;CC=c.17-80C>G;VC=Intron;DM=UBE2J2/UQ_con;DM=UBE2J2/UQ_con;DM=UBE2J2/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,G,D:25:2:0:3:8,16,1:159,387,19:13.07,0.00,0.74:2.03,0.00,0.00:11.04,0.00,0.74:0.99,0.00,0.00:0.62,0.00,0.00:0.99,0.00,0.00:60,60,60:94.2,43.9,10.0:3,10,0:0,0,0:90,121,95:61,23,56:40,21,0:NM_194315.1(UBE2J2) c.221-80C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1192772 . CA C 10 nt VT=DEL;SST=Single;DP=24;PC=0.002;Gene=UBE2J2/NM_058167.2/0;CC=c.173-83delT;VC=Intron;Gene=UBE2J2/NM_194315.1/1;CC=c.221-83delT;VC=Intron;Gene=UBE2J2/NM_194457.1/0;CC=c.17-83delT;VC=Intron;Gene=UBE2J2/NM_194458.1/0;CC=c.17-83delT;VC=Intron;DM=UBE2J2/UQ_con;DM=UBE2J2/UQ_con;DM=UBE2J2/UQ_con;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:CA,C:24:3:0:7:19,5:494,129:0.00,9.97:0.00,1.25:0.00,8.73:0.00,0.83:0.00,0.54:0.00,0.83:60,60:66.8,62.8:7,1:0,0:102,109:33,26:33,16:-,NM_194315.1(UBE2J2) c.221-83delT:-,NOT_FOUND:-,NOT_FOUND 1 1192773 . A C 24 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;NP=11;PC=0.002;Gene=UBE2J2/NM_058167.2/0;CC=c.173-83T>G;VC=Intron;Gene=UBE2J2/NM_194315.1/1;CC=c.221-83T>G;VC=Intron;Gene=UBE2J2/NM_194457.1/0;CC=c.17-83T>G;VC=Intron;Gene=UBE2J2/NM_194458.1/0;CC=c.17-83T>G;VC=Intron;DM=UBE2J2/UQ_con;DM=UBE2J2/UQ_con;DM=UBE2J2/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,C,T,D:17:2:0:10:5,10,1,1:146,234,11,77:0.00,23.66,0.33,1.79:0.00,2.39,0.00,0.00:0.00,21.27,0.33,1.79:0.00,1.00,0.00,0.00:0.00,0.81,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:18.4,93.5,155.0,80.0:0,4,0,2:0,0,0,0:145,92,136,116:6,58,15,32:4,30,0,7:-,NM_194315.1(UBE2J2) c.221-83T>G:-,NOT_FOUND:-,NOT_FOUND 1 1198767 . C . . NT END=1203112;NT GT ./. 1 1203373 . C . . NT END=1216605;NT GT ./. 1 1216678 . G . . NT END=1216790;NT GT ./. 1 1216991 . G . . NT END=1217621;NT GT ./. 1 1217696 . G . . NT END=1219357;NT GT ./. 1 1219471 . G . . NT END=1220950;NT GT ./. 1 1219487 . T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;PC=0.001;Gene=SCNN1D/NM_001130413.3/1;CC=c.464+17T>G;VC=Intron;Gene=SCNN1D/NR_037668.2/0;VC=NonCoding;DM=SCNN1D/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:C,G,T:31:26:0:1:2,6,23:24,115,519:0.50,8.00,0.00:0.67,8.56,0.00:-0.17,-0.56,0.00:0.00,0.90,0.00:0.00,0.99,0.00:0.00,0.74,0.00:60,60,60:38.0,59.8,21.0:0,0,0:0,0,0:117,111,126:28,35,16:17,19,18:NM_001130413.3(SCNN1D) c.464+17T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1219505 . T G 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;PC=0.001;Gene=SCNN1D/NM_001130413.3/1;CC=c.464+35T>G;VC=Intron;Gene=SCNN1D/NR_037668.2/0;VC=NonCoding;DM=SCNN1D/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:G,T:17:17:0:0:7,10:90,222:7.24,0.00:7.24,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:64.6,19.1:0,0:0,0:117,114:28,23:14,24:NM_001130413.3(SCNN1D) c.464+35T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1219518 . T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;PC=0.012;Gene=SCNN1D/NM_001130413.3/1;CC=c.464+48T>G;VC=Intron;Gene=SCNN1D/NR_037668.2/0;VC=NonCoding;DM=SCNN1D/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:G,T:11:11:0:0:4,7:84,108:7.18,0.00:7.18,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:70.8,29.3:0,0:0,0:122,116:16,20:5,14:NM_001130413.3(SCNN1D) c.464+48T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1221045 . G . . NT END=1221305;NT GT ./. 1 1221659 . G . . NT END=1222147;NT GT ./. 1 1222342 . T C 181 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=110;PC=0.986;Gene=SCNN1D/NM_001130413.3/1;CC=c.1106T>C;ProtCh=p.V369A;VC=Missense;Gene=SCNN1D/NR_037668.2/0;VC=NonCoding;DM=SCNN1D/ASC;DM=SCNN1D/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:110:69:0:0:1,60,49:10,1853,1513:-0.10,181.20,0.00:-0.00,92.94,0.00:-0.10,88.26,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:76.0,48.6,10.0:0,0,0:0,0,0:107,94,79:44,50,66:0,36,38:NM_001130413.3(SCNN1D) c.1106T>C (p.Val369Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 1222356 . G . . NT END=1222488;NT GT ./. 1 1222680 . G . . NT END=1222887;NT GT ./. 1 1222977 . G . . NT END=1223052;NT GT ./. 1 1223217 . G . . NT END=1223318;NT GT ./. 1 1223418 . G . . NT END=1225650;NT GT ./. 1 1225461 . T C 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;NP=6;PC=0.004;Gene=SCNN1D/NM_001130413.3/1;CC=c.1663-190T>C;VC=Intron;Gene=SCNN1D/NR_037668.2/0;VC=NonCoding;DM=SCNN1D/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:8:6:0:0:5,3:153,98:15.39,0.00:16.24,0.00:-0.85,0.00:0.97,0.00:1.00,0.00:0.88,0.00:60,60:58.4,56.7:0,0:0,0:27,101:121,9:3,0:NM_001130413.3(SCNN1D) c.1663-190T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 1225769 . G . . NT END=1225856;NT GT ./. 1 1225936 . G . . NT END=1226016;NT GT ./. 1 1226075 . G . . NT END=1226274;NT GT ./. 1 1226334 . G . . NT END=1226444;NT GT ./. 1 1226521 . G . . NT END=1226633;NT GT ./. 1 1226991 . A . . NT END=1228943;NT GT ./. 1 1229089 . C . . NT END=1229202;NT GT ./. 1 1229314 . C . . NT END=1229469;NT GT ./. 1 1229580 . C . . NT END=1229781;NT GT ./. 1 1229680 rs2477781 G T 248 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.01258,T/0.9874;Gene=ACAP3/NM_030649.2/1;CC=c.2140-101C>A;VC=Intron;DM=ACAP3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:G,T:71:42:0:0:2,69:19,2181:0.00,247.70:0.00,148.36:0.00,99.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:117.0,40.9:0,0:0,0:63,69:69,80:27,33:NM_030649.2(ACAP3) c.2140-101C>A,NM_030649.2(ACAP3) c.2140-101C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 1230009 . C . . NT END=1230097;NT GT ./. 1 1230197 . C . . NT END=1230826;NT GT ./. 1 1230935 . C . . NT END=1231115;NT GT ./. 1 1231319 . C . . NT END=1231394;NT GT ./. 1 1231490 . C . . NT END=1231590;NT GT ./. 1 1231661 . C . . NT END=1231804;NT GT ./. 1 1232014 . C . . NT END=1233201;NT GT ./. 1 1233314 . C . . NT END=1233392;NT GT ./. 1 1233564 . C . . NT END=1233749;NT GT ./. 1 1233802 . C . . NT END=1233946;NT GT ./. 1 1234060 . C . . NT END=1234724;NT GT ./. 1 1234737 . C . . NT END=1235210;NT GT ./. 1 1235286 . C . . NT END=1235352;NT GT ./. 1 1235449 . C . . NT END=1235537;NT GT ./. 1 1235583 . C . . NT END=1235888;NT GT ./. 1 1236073 . C . . NT END=1237367;NT GT ./. 1 1237427 . C . . NT END=1238301;NT GT ./. 1 1237604 rs2296475 T C 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.1176,C/0.8824;Gene=ACAP3/NM_030649.2/1;CC=c.280-178A>G;VC=Intron;DM=ACAP3/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:415:48.14:0.00:48.14:1.00:0.00:1.00:60:49.8:0:0:102:48:30:NM_030649.2(ACAP3) c.280-178A>G,NM_030649.2(ACAP3) c.280-178A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 1238356 . C . . NT END=1238541;NT GT ./. 1 1238662 . C . . NT END=1239465;NT GT ./. 1 1239339 rs11260584 T G 108 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2808,A/.,G/0.7192;Gene=ACAP3/NM_030649.2/1;CC=c.105+127A>C;VC=Intron;DM=ACAP3/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:33:0:0:33:927:108.37:106.53:1.84:1.00:1.00:1.00:60:44.5:0:0:19:132:19:NM_030649.2(ACAP3) c.105+127A>C,NM_030649.2(ACAP3) c.105+127A>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1239524 . C . . NT END=1242631;NT GT ./. 1 1242707 rs2274262 A G 460 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=A/0.5,G/0.5;Gene=ACAP3/NM_030649.2/1;CC=c.47+442T>C;VC=Intron;DM=ACAP3/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:127:84:0:0:2,125:15,4011:0.19,459.64:0.15,216.35:0.04,243.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:96.5,41.4:0,0:0,0:81,87:33,59:13,24:NM_030649.2(ACAP3) c.47+442T>C,NM_030649.2(ACAP3) c.47+442T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 1242759 . C . . NT END=1243148;NT GT ./. 1 1242983 rs2887285 G A 133 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.5062,A/0.4938;Gene=ACAP3/NM_030649.2/1;CC=c.47+166C>T;VC=Intron;DM=ACAP3/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:28:0:0:37:1154:132.96:101.49:31.47:1.00:1.00:1.00:60:45.9:0:0:53:98:34:NM_030649.2(ACAP3) c.47+166C>T,NM_030649.2(ACAP3) c.47+166C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 1243196 . G . . NT END=1244023;NT GT ./. 1 1243896 rs61766198 C T 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6895,T/0.3105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:410:47.63:47.63:0.00:1.00:1.00:0.00:60:114.6:0:0:50:78:42:NM_030649.2(ACAP3) c.-74-u627G>A,NM_030649.2(ACAP3) c.-74-u627G>A:0.4,0.4:NOT_FOUND,NOT_FOUND 1 1243929 rs190454859 G T 19 sb;idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:G,T:13:10:0:0:5,8:146,192:0.00,19.22:0.00,20.43:0.00,-1.21:0.00,1.00:0.00,1.00:0.00,0.95:60,60:106.4,134.0:2,4:0,0:15,61:123,74:9,34:-,NM_030649.2(ACAP3) c.-74-u660C>A:-,0.27:-,NOT_FOUND 1 1243934 rs12022139 A G 43 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=173 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A,G:14:8:0:6:1,13:15,382:0.00,42.85:0.00,27.79:0.00,15.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.0,97.2:0,0:0,0:1,20:150,118:0,20:NM_030649.2(ACAP3) c.-74-u665T>C,NM_030649.2(ACAP3) c.-74-u665T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1244101 . G . . NT END=1244294;NT GT ./. 1 1244353 . G . . NT END=1244465;NT GT ./. 1 1244654 . G . . NT END=1244833;NT GT ./. 1 1244984 . G . . NT END=1245060;NT GT ./. 1 1245232 . G . . NT END=1246013;NT GT ./. 1 1245368 rs11590283 G A 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6899,A/0.3101;Gene=PUSL1/NM_153339.1/1;CC=c.644+137G>A;VC=Intron;DM=PUSL1/PseudoU_synth_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:354:40.64:0.00:40.64:1.00:0.00:1.00:60:38.8:0:0:134:17:10:NM_153339.1(PUSL1) c.644+137G>A,NM_153339.1(PUSL1) c.644+137G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 1 1246004 rs2296474 A G 263 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.04812,G/0.9519,T/.;Gene=PUSL1/NM_153339.1/1;CC=c.645-10A>G;VC=Intron;DM=PUSL1/PseudoU_synth_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:72:68:0:0:72:2293:263.40:225.82:37.58:1.00:1.00:1.00:60:47.7:0:0:53:91:33:NM_153339.1(PUSL1) c.645-10A>G,NM_153339.1(PUSL1) c.645-10A>G:0.96,0.96:0.976857,0.976857 1 1246069 . G . . NT END=1246167;NT GT ./. 1 1246204 . C . . NT END=1246288;NT GT ./. 1 1246256 rs142589758 CGGCTCTGGGTCACAGGT C 143 nt VT=DEL;SST=Single;DP=224;DB;DBA=NA;PAF=CGGCTCTGGGTCACAGGT/0.9758,C/0.02416;NP=233;Gene=PUSL1/NM_153339.1/1;CC=c.700-15_701delGGCTCTGGGTCACAGGT;VC=Intron;DM=PUSL1/PseudoU_synth_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGGCTCTGGGTCACAGGT,T,C:224:148:0:58:164,2,58:5046,21,1705:0.00,-0.44,142.88:0.00,-0.33,83.10:0.00,-0.11,59.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.5,120.5,13.2:1,0,0:0,0,0:77,81,65:61,45,84:36,5,11:-,NM_153339.1(PUSL1) c.700-32_700-16delGGCTCTGGGTCACAGGT:-,0.01:-,0.024004 1 1246452 . G . . NT END=1246709;NT GT ./. 1 1246760 . C . . NT END=1247238;NT GT ./. 1 1247305 . C . . NT END=1247397;NT GT ./. 1 1247494 rs12103 T C 396 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.6807,C/0.3193;Gene=CPSF3L/NM_001256456.1/1;CC=c.1659A>G;ProtCh=p.P553=;VC=Silent;Gene=CPSF3L/NM_001256460.1/0;CC=c.1554A>G;ProtCh=p.P518=;VC=Silent;Gene=CPSF3L/NM_001256462.1/0;CC=c.1347A>G;ProtCh=p.P449=;VC=Silent;Gene=CPSF3L/NM_001256463.1/0;CC=c.1338A>G;ProtCh=p.P446=;VC=Silent;Gene=CPSF3L/NM_017871.5/0;CC=c.1641A>G;ProtCh=p.P547=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:117:88:0:0:114,2,1:3440,32,13:395.53,1.06,0.00:259.92,0.86,0.00:135.60,0.20,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,72.0,58.0:0,0,0:0,0,0:105,101,131:46,33,-13:28,45,0:NM_001256456.1(CPSF3L) c.1659A>G (p.(=)),NM_001256456.1(CPSF3L) c.1659A>G (p.(=)):0.39,0.39:0.600898,0.600898 1 1247528 . C . . NT END=1247605;NT GT ./. 1 1247578 rs70949570 T TGGGG 48 idl,nt VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=3;NP=39;NP=5;NP=5;NP=6;NP=6;Gene=CPSF3L/NM_001256456.1/1;CC=c.1625+27_1625+28insCCCC;VC=Intron;Gene=CPSF3L/NM_001256460.1/0;CC=c.1520+27_1520+28insCCCC;VC=Intron;Gene=CPSF3L/NM_001256462.1/0;CC=c.1313+27_1313+28insCCCC;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.1304+27_1304+28insCCCC;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.1607+27_1607+28insCCCC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TGGGG:34:45:29:1:2,16,16:52,349,899:3.16,0.00,47.69:3.20,0.00,48.05:-0.04,0.00,-0.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.64:60,60,60:87.5,39.2,122.4:0,0,13:0,0,0:106,129,64:22,11,80:11,13,21:-,NM_001256456.1(CPSF3L) c.1625+27_1625+28insCCCC:-,NOT_FOUND:-,NOT_FOUND 1 1247589 . C G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;NP=9;Gene=CPSF3L/NM_001256456.1/1;CC=c.1625+17G>C;VC=Intron;Gene=CPSF3L/NM_001256460.1/0;CC=c.1520+17G>C;VC=Intron;Gene=CPSF3L/NM_001256462.1/0;CC=c.1313+17G>C;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.1304+17G>C;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.1607+17G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,G,T,D:44:34:0:3:30,11,2,1:592,158,23,17:0.00,10.80,0.32,0.35:0.00,6.89,-0.18,-0.23:0.00,3.91,0.50,0.58:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.97,0.00,0.00:60,60,60,60:40.0,68.2,89.0,0.0:2,0,0,0:0,0,0,0:47,79,23,46:91,66,115,69:38,33,16,0:-,NM_001256456.1(CPSF3L) c.1625+17G>C:-,NOT_FOUND:-,NOT_FOUND 1 1247749 . C . . NT END=1247819;NT GT ./. 1 1247882 . C . . NT END=1247972;NT GT ./. 1 1248081 . C . . NT END=1248166;NT GT ./. 1 1248330 . C . . NT END=1248414;NT GT ./. 1 1248505 . C . . NT END=1248888;NT GT ./. 1 1248973 . C . . NT END=1249111;NT GT ./. 1 1249187 rs12142199 G A 444 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.6899,A/0.3101;PC=0.931;Gene=CPSF3L/NM_001256456.1/1;CC=c.900C>T;ProtCh=p.F300=;VC=Silent;Gene=CPSF3L/NM_001256460.1/0;CC=c.795C>T;ProtCh=p.F265=;VC=Silent;Gene=CPSF3L/NM_001256462.1/0;CC=c.588C>T;ProtCh=p.F196=;VC=Silent;Gene=CPSF3L/NM_001256463.1/0;CC=c.579C>T;ProtCh=p.F193=;VC=Silent;Gene=CPSF3L/NM_017871.5/0;CC=c.882C>T;ProtCh=p.F294=;VC=Silent;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Beta-Casp;DM=CPSF3L/RMMBL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:119:83:0:0:119:3872:443.71:230.44:213.28:1.00:1.00:1.00:60:38.4:0:0:79:68:31:NM_001256456.1(CPSF3L) c.900C>T (p.(=)),NM_001256456.1(CPSF3L) c.900C>T (p.(=)):0.38,0.38:0.586435,0.586435 1 1249302 . C . . NT END=1249680;NT GT ./. 1 1249746 . C . . NT END=1250203;NT GT ./. 1 1250343 . C . . NT END=1250783;NT GT ./. 1 1250819 . C . . NT END=1250899;NT GT ./. 1 1250999 . C . . NT END=1252779;NT GT ./. 1 1252775 rs76122723 C CA 8 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CPSF3L/NM_001256456.1/1;CC=c.448-1778_448-1777insT;VC=Intron;Gene=CPSF3L/NM_001256460.1/0;CC=c.343-1778_343-1777insT;VC=Intron;Gene=CPSF3L/NM_001256462.1/0;CC=c.140-1782_140-1781insT;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.127-1778_127-1777insT;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.430-1778_430-1777insT;VC=Intron;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/RMMBL;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,C,CA:16:13:3:0:1,12,3:10,375,94:0.08,0.00,7.57:-0.22,0.00,6.35:0.31,0.00,1.22:0.00,0.00,0.54:0.00,0.00,0.88:0.00,0.00,0.77:60,60,60:48.0,27.3,78.7:0,0,0:0,0,0:54,65,45:75,75,93:0,35,30:-,NM_001256456.1(CPSF3L) c.448-1778_448-1777insT:-,NOT_FOUND:-,NOT_FOUND 1 1252831 . c . . NT END=1254675;NT GT ./. 1 1254436 rs1886773 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1266,G/0.8734,T/.;Gene=CPSF3L/NM_001256456.1/1;CC=c.447+240T>C;VC=Intron;Gene=CPSF3L/NM_001256460.1/0;CC=c.342+240T>C;VC=Intron;Gene=CPSF3L/NM_001256462.1/0;CC=c.140-3442T>C;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.126+1940T>C;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.429+240T>C;VC=Intron;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/RMMBL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:118:13.71:13.71:0.00:1.00:1.00:0.00:60:72.5:0:0:64:86:4:NM_001256456.1(CPSF3L) c.447+240T>C,NM_001256456.1(CPSF3L) c.447+240T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 1254443 rs1886772 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2865,A/0.7135;Gene=CPSF3L/NM_001256456.1/1;CC=c.447+233C>T;VC=Intron;Gene=CPSF3L/NM_001256460.1/0;CC=c.342+233C>T;VC=Intron;Gene=CPSF3L/NM_001256462.1/0;CC=c.140-3449C>T;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.126+1933C>T;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.429+233C>T;VC=Intron;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/RMMBL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:120:13.90:13.90:0.00:1.00:1.00:0.00:60:72.5:0:0:71:79:4:NM_001256456.1(CPSF3L) c.447+233C>T,NM_001256456.1(CPSF3L) c.447+233C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1254841 rs10907179 C G 366 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.2863,G/0.7137;PC=0.701;Gene=CPSF3L/NM_001256456.1/1;CC=c.282G>C;ProtCh=p.G94=;VC=Silent;Gene=CPSF3L/NM_001256460.1/0;CC=c.177G>C;ProtCh=p.G59=;VC=Silent;Gene=CPSF3L/NM_001256462.1/0;CC=c.139+3716G>C;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.126+1535G>C;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.264G>C;ProtCh=p.G88=;VC=Silent;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B_6;DM=CPSF3L/Lactamase_B;DM=CPSF3L/Beta-Casp;DM=CPSF3L/Lactamase_B_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:100:61:0:0:1,1,98:33,9,3216:1.78,0.00,366.13:0.00,0.00,148.27:1.78,0.00,217.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.0,195.0,38.4:0,0,0:0,0,0:85,42,93:66,106,55:0,0,37:NM_001256456.1(CPSF3L) c.282G>C (p.(=)),NM_001256456.1(CPSF3L) c.282G>C (p.(=)):0.75,0.75:0.751269,0.751269 1 1254905 . C . . NT END=1255835;NT GT ./. 1 1255910 . C . . NT END=1256375;NT GT ./. 1 1256474 . C . . NT END=1257287;NT GT ./. 1 1257365 . C . . NT END=1258271;NT GT ./. 1 1257593 rs1810745 A G 26 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1308,G/0.8692;Gene=CPSF3L/NM_001256456.1/1;CC=c.-31-229T>C;VC=Intron;Gene=CPSF3L/NM_001256460.1/0;CC=c.-60+968T>C;VC=Intron;Gene=CPSF3L/NM_001256462.1/0;CC=c.139+964T>C;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.29-1120T>C;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.29-1120T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:229:26.24:1.99:24.25:1.00:1.00:1.00:60:33.7:0:0:115:36:30:NM_001256456.1(CPSF3L) c.-31-229T>C,NM_001256456.1(CPSF3L) c.-31-229T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 1258246 rs3845293 A C 165 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.2829,C/0.7171;Gene=CPSF3L/NM_001256456.1/1;CC=c.-32+26T>G;VC=Intron;Gene=CPSF3L/NM_001256460.1/0;CC=c.-60+315T>G;VC=Intron;Gene=CPSF3L/NM_001256462.1/0;CC=c.139+311T>G;VC=Intron;Gene=CPSF3L/NM_001256463.1/0;CC=c.28+1715T>G;VC=Intron;Gene=CPSF3L/NM_017871.5/0;CC=c.28+1715T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:41:0:0:45:1438:165.11:131.91:33.20:1.00:1.00:1.00:60:50.4:0:0:42:104:31:NM_001256456.1(CPSF3L) c.-32+26T>G,NM_001256456.1(CPSF3L) c.-32+26T>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1258668 . C . . NT END=1259960;NT GT ./. 1 1259989 . C . . NT END=1262290;NT GT ./. 1 1260168 rs61766199 C A 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.2911,A/0.7089;PC=0.007;Gene=CPTP/NM_001029885.1/1;CC=c.-390C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A,C:17:2:0:0:16,1:487,8:54.94,0.00:6.10,0.00:48.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.1,167.0:0,0:0,0:115,79:23,40:24,0:NM_001029885.1(GLTPD1) c.-390C>A,NM_001029885.1(GLTPD1) c.-390C>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 1262413 . G . . NT END=1262620;NT GT ./. 1 1262591 rs2296472 C T 296 nt VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.2802,T/0.7198;Gene=CPTP/NM_001029885.1/1;CC=c.123-30C>T;VC=Intron;DM=CPTP/GLTP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:85:68:0:0:1,84:10,2580:0.00,296.05:0.00,201.39:0.00,94.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.0,42.1:0,0:0,0:105,58:33,92:0,28:NM_001029885.1(GLTPD1) c.123-30C>T,NM_001029885.1(GLTPD1) c.123-30C>T:0.75,0.75:0.759806,0.759806 1 1262966 rs307349 C T 591 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=166;DB;DBA=NA;PAF=C/0.2374,T/0.7626;PC=0.981;Gene=CPTP/NM_001029885.1/1;CC=c.468C>T;ProtCh=p.R156=;VC=Silent;DM=CPTP/GLTP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:166:105:0:0:1,165:6,5139:0.00,590.86:0.00,284.91:0.00,305.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,40.9:0,0:0,0:30,70:120,74:0,38:NM_001029885.1(GLTPD1) c.468C>T (p.(=)),NM_001029885.1(GLTPD1) c.468C>T (p.(=)):0.78,0.78:0.81306,0.81306 1 1263144 . G . . NT END=1266725;NT GT ./. 1 1263144 rs307350 G A 340 nt VT=SNV;PN=G;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.1502,A/0.8498;Gene=CPTP/NM_001029885.1/1;CC=c.*1G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:35:0:0:90:2969:339.70:84.75:254.95:1.00:1.00:1.00:60:46.9:0:0:100:50:29:NM_001029885.1(GLTPD1) c.*1G>A,NM_001029885.1(GLTPD1) c.*1G>A:0.84,0.84:0.908324,0.908324 1 1263362 rs4970433 G A 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2853,A/0.7147;Gene=CPTP/NM_001029885.1/1;CC=c.*219G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:370:42.25:0.00:42.25:1.00:0.00:1.00:60:57.7:0:0:131:17:13:NM_001029885.1(GLTPD1) c.*219G>A,NM_001029885.1(GLTPD1) c.*219G>A:0.75,0.75:0.770377,0.770377 1 1266476 rs3855954 A G 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.04832,G/0.9517 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:33.0:0:0:13:136:4:NM_001256456.1(CPSF3L) c.-534-u6409T>C,NM_001256456.1(CPSF3L) c.-534-u6409T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 1266917 . G . . NT END=1267017;NT GT ./. 1 1267319 . G . . NT END=1267403;NT GT ./. 1 1268187 . G . . NT END=1268300;NT GT ./. 1 1268505 . G . . NT END=1268638;NT GT ./. 1 1268760 . G . . NT END=1268885;NT GT ./. 1 1268847 rs307378 T G 989 nt VT=SNV;PN=G;NN=A;SST=Single;DP=268;DB;DBA=NA;PAF=T/0.04832,A/.,G/0.9517;Gene=TAS1R3/NM_152228.1/1;CC=c.1601-39T>G;VC=Intron;DM=TAS1R3/NCD3G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:268:172:0:0:1,267:13,8622:0.09,988.58:0.09,469.15:0.00,519.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:189.0,41.2:0,0:0,0:60,77:89,72:0,34:NM_152228.1(TAS1R3) c.1601-39T>G,NM_152228.1(TAS1R3) c.1601-39T>G:0.96,0.96:0.977308,0.977308 1 1269554 rs307377 T C 851 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=243;DB;DBA=NA;PAF=T/0.04812,A/.,C/0.9519;PC=0.212;Gene=TAS1R3/NM_152228.1/1;CC=c.2269T>C;ProtCh=p.C757R;VC=Missense;DM=TAS1R3/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:243:136:0:0:242,1:7362,8:850.73,0.03:375.78,0.00:474.95,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,17.0:0,0:0,0:88,30:56,121:36,0:NM_152228.1(TAS1R3) c.=,NM_152228.1(TAS1R3) c.=:0.96,0.96:0.977375,0.977375 1 1269845 . C . . NT END=1271521;NT GT ./. 1 1271908 . A . . NT END=1272409;NT GT ./. 1 1272448 . A . . NT END=1273356;NT GT ./. 1 1272497 rs307372 A G 211 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.04852,G/0.9515;Gene=DVL1/NM_004421.2/1;CC=c.1640-602T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:32:0:0:58:1833:210.92:70.70:140.22:1.00:1.00:1.00:60:36.1:0:0:84:64:33:NM_004421.2(DVL1) c.1640-602T>C,NM_004421.2(DVL1) c.1640-602T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 1273278 rs307370 A G 110 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.3157,G/0.6843;PC=0.004;Gene=DVL1/NM_004421.2/1;CC=c.1639+79T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:28:0:0:29:963:110.07:105.99:4.08:1.00:1.00:1.00:60:49.7:0:0:41:110:30:NM_004421.2(DVL1) c.1639+79T>C,NM_004421.2(DVL1) c.1639+79T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 1273576 . G . . NT END=1273648;NT GT ./. 1 1273829 . A . . NT END=1273901;NT GT ./. 1 1274046 . G . . NT END=1274678;NT GT ./. 1 1274242 rs307369 A G 85 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.04832,G/0.9517;Gene=DVL1/NM_004421.2/1;CC=c.1133-209T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:0:0:0:22:741:84.59:0.00:84.59:1.00:0.00:1.00:60:49.4:0:0:123:28:24:NM_004421.2(DVL1) c.1133-209T>C,NM_004421.2(DVL1) c.1133-209T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 1274350 rs307368 A G 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1759,G/0.8241,T/.;Gene=DVL1/NM_004421.2/1;CC=c.1133-317T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:4:0:0:10:280:32.65:14.31:18.34:1.00:1.00:1.00:60:60.9:0:0:32:117:23:NM_004421.2(DVL1) c.1133-317T>C,NM_004421.2(DVL1) c.1133-317T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 1274832 . C . . NT END=1274961;NT GT ./. 1 1275042 . T . . NT END=1275115;NT GT ./. 1 1275205 . G . . NT END=1275417;NT GT ./. 1 1275264 rs12037363 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DVL1/NM_004421.2/1;CC=c.910-72T>C;VC=Intron;DM=DVL1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C,G:64:22:0:0:52,1,11:1505,11,197:0.00,-0.18,12.54:0.00,0.09,5.56:0.00,-0.27,6.98:0.00,0.00,0.99:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:38.8,66.0,104.5:0,0,0:0,0,0:110,69,36:37,48,97:24,0,18:-,NM_004421.2(DVL1) c.910-72T>C:-,0.15:-,NOT_FOUND 1 1275290 rs59153307 C T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.003;Gene=DVL1/NM_004421.2/1;CC=c.910-98G>A;VC=Intron;DM=DVL1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:58:24:0:0:1,44,2,11:12,1366,22,315:-0.09,0.00,0.05,24.83:-0.11,0.00,-0.23,18.44:0.02,0.00,0.28,6.40:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:80.0,69.3,93.0,116.1:0,0,0,0:0,0,0,0:25,96,18,21:121,44,132,125:0,27,10,13:-,NM_004421.2(DVL1) c.910-98G>A:-,NOT_FOUND:-,NOT_FOUND 1 1275291 rs11582808 G A 123 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=NA;Gene=DVL1/NM_004421.2/1;CC=c.910-99C>T;VC=Intron;DM=DVL1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,C,G:58:23:0:0:46,2,10:1128,18,210:123.16,0.30,0.00:37.55,-0.08,0.00:85.61,0.38,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:77.8,94.0,74.1:0,0,0:0,0,0:89,57,28:52,93,105:38,48,20:NM_004421.2(DVL1) c.910-99C>T,-:0.51,-:NOT_FOUND,- 1 1275320 . A C 14 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=62;PC=0.001;Gene=DVL1/NM_004421.2/1;CC=c.909+98T>G;VC=Intron;DM=DVL1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,C:62:34:0:0:53,9:1467,205:0.00,13.72:0.00,13.91:0.00,-0.19:0.00,0.98:0.00,0.98:0.00,0.97:60,60:61.9,136.0:0,0:0,0:55,78:92,28:45,21:-,NM_004421.2(DVL1) c.909+98T>G:-,NOT_FOUND:-,NOT_FOUND 1 1275329 rs11585534 T C 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=7;Gene=DVL1/NM_004421.2/1;CC=c.909+89A>G;VC=Intron;DM=DVL1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:41:0:0:16,51:410,1495:32.69,0.00:22.19,0.00:10.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:115.3,58.1:0,0:0,0:105,45:19,104:32,31:NM_004421.2(DVL1) c.909+89A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1275330 rs11585063 A G 13 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=2;Gene=DVL1/NM_004421.2/1;CC=c.909+88T>C;VC=Intron;DM=DVL1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,C,G:72:46:0:0:64,2,6:1825,25,192:0.00,-0.02,13.19:0.00,0.28,-1.48:0.00,-0.30,14.67:0.00,0.00,0.79:0.00,0.00,0.93:0.00,0.00,0.87:60,45,60:62.2,208.0,116.0:0,0,0:0,0,0:46,90,138:103,26,13:31,16,6:-,NM_004421.2(DVL1) c.909+88T>C:-,NOT_FOUND:-,NOT_FOUND 1 1275570 . C . . NT END=1275626;NT GT ./. 1 1275709 . G . . NT END=1275789;NT GT ./. 1 1275896 . T . . NT END=1277046;NT GT ./. 1 1276077 rs3855955 G A 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9032,A/0.09685;Gene=DVL1/NM_004421.2/1;CC=c.606-194C>T;VC=Intron;DM=DVL1/Dishevelled GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G,T:10:1:0:0:4,5,1:129,150,11:12.11,0.00,0.41:-0.22,0.00,-0.05:12.33,0.00,0.46:0.84,0.00,0.00:0.60,0.00,0.00:0.98,0.00,0.00:60,60,60:91.0,27.8,114.0:0,0,0:0,0,0:121,96,134:29,55,17:8,13,0:NM_004421.2(DVL1) c.606-194C>T,-:0.13,-:NOT_FOUND,- 1 1276812 rs307363 G A 38 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.04832,A/0.9517;Gene=DVL1/NM_004421.2/1;CC=c.605+235C>T;VC=Intron;DM=DVL1/Dishevelled GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:335:38.27:36.28:1.99:1.00:1.00:1.00:60:36.3:0:0:60:89:19:NM_004421.2(DVL1) c.605+235C>T,NM_004421.2(DVL1) c.605+235C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 1276973 rs397715485 G GACAC 218 nt VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.121,GACAC/0.747;DB;DBA=NA;PAF=G/0.121,C/0.132;DB;DBA=NA;PAF=G/0.121,GACAC/0.747;NP=2655;PC=0.296;Gene=DVL1/NM_004421.2/1;CC=c.605+70_605+73dupGTGT;VC=Intron;DM=DVL1/Dishevelled;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:C,G,GACAC:71:68:62:0:4,5,62:125,75,1961:9.29,0.00,217.74:9.29,0.00,174.13:0.00,0.00,43.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:36.5,35.4,10.5:0,0,0:0,0,0:0,135,48:150,6,100:0,4,22:NM_004421.2(DVL1) c.605+73_605+74insGTGT,NM_004421.2(DVL1) c.605+73_605+74insGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1277198 . C . . NT END=1277432;NT GT ./. 1 1277533 rs307362 T C 354 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.001997,A/.,C/0.998;NP=2039;Gene=DVL1/NM_004421.2/1;CC=c.366A>G;ProtCh=p.P122=;VC=Silent;DM=DVL1/Dishevelled GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:59:0:0:95:3083:353.56:171.71:181.85:1.00:1.00:1.00:60:41.4:0:0:91:57:30:NM_004421.2(DVL1) c.366A>G (p.(=)),NM_004421.2(DVL1) c.366A>G (p.(=)):0.99,0.99:0.999072,0.999072 1 1277549 . A . . NT END=1277742;NT GT ./. 1 1277877 . C . . NT END=1278068;NT GT ./. 1 1278151 . G . . NT END=1284275;NT GT ./. 1 1278237 rs307361 T C 116 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.04832,C/0.9517;Gene=DVL1/NM_004421.2/1;CC=c.171-99A>G;VC=Intron;DM=DVL1/DIX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:5:0:0:33:1000:115.72:11.33:104.39:1.00:1.00:1.00:60:37.6:0:0:109:41:23:NM_004421.2(DVL1) c.171-99A>G,NM_004421.2(DVL1) c.171-99A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 1284139 rs141858975 C T 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9964,T/0.003594;NP=24;Gene=DVL1/NM_004421.2/1;CC=c.170+137G>A;VC=Intron;DM=DVL1/DIX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:13,8:414,221:0.00,19.83:0.00,19.83:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:20.6,63.9:0,0:0,0:51,49:100,102:27,17:-,NM_004421.2(DVL1) c.170+137G>A:-,0.01:-,NOT_FOUND 1 1284458 . g . . NT END=1284828;NT GT ./. 1 1284490 rs150789461 G A 234 nt VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.237,A/0.763;PC=0.988;Gene=DVL1/NM_004421.2/1;CC=c.-45C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:A,C:66:20:0:0:65,1:2033,6:233.68,0.05:38.60,0.00:195.08,0.05:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.4,45.0:0,0:0,0:88,75:62,76:27,0:NM_004421.2(DVL1) c.-45C>T,NM_004421.2(DVL1) c.-45C>T:0.79,0.79:0.873124,0.873124 1 1285336 . C . . NT END=1286586;NT GT ./. 1 1286902 . C . . NT END=1288680;NT GT ./. 1 1288583 rs3845295 C G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MXRA8/NM_001282585.1/0;CC=c.*98G>C;VC=3UTR;Gene=MXRA8/NM_001282584.1/0;CC=c.*401G>C;VC=3UTR;Gene=MXRA8/NM_032348.3/0;CC=c.*401G>C;VC=3UTR;Gene=MXRA8/NM_001282583.1/0;CC=c.*401G>C;VC=3UTR;Gene=MXRA8/NM_001282582.1/1;CC=c.*401G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:317:37.40:37.40:0.00:1.00:1.00:0.00:60:46.7:0:0:38:111:24:NM_032348.2(MXRA8) c.=,NM_032348.2(MXRA8) c.=:0.87,0.87:NOT_FOUND,NOT_FOUND 1 1288823 rs2296471 A G 342 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.2392,C/.,G/0.7608,T/.;Gene=MXRA8/NM_001282585.1/0;CC=c.1322-111T>C;VC=Intron;Gene=MXRA8/NM_001282584.1/0;CC=c.*161T>C;VC=3UTR;Gene=MXRA8/NM_032348.3/0;CC=c.*161T>C;VC=3UTR;Gene=MXRA8/NM_001282583.1/0;CC=c.*161T>C;VC=3UTR;Gene=MXRA8/NM_001282582.1/1;CC=c.*161T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:93:67:0:0:93:2976:341.82:196.44:145.38:1.00:1.00:1.00:60:36.2:0:0:59:86:37:NM_032348.2(MXRA8) c.=,NM_032348.2(MXRA8) c.=:0.79,0.79:NOT_FOUND,NOT_FOUND 1 1289010 . C . . NT END=1289227;NT GT ./. 1 1289327 . C . . NT END=1289409;NT GT ./. 1 1289367 rs140777846 CTG C 253 nt VT=DEL;SST=Single;DP=78;DB;DBA=NA;PAF=CTG/0.1793,C/0.8207;NP=2900;PC=0.015;Gene=MXRA8/NM_001282585.1/0;CC=c.1222+41_1222+42delCA;VC=Intron;Gene=MXRA8/NM_001282584.1/0;CC=c.919+41_919+42delCA;VC=Intron;Gene=MXRA8/NM_032348.3/0;CC=c.1222+41_1222+42delCA;VC=Intron;Gene=MXRA8/NM_001282583.1/0;CC=c.1195+41_1195+42delCA;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.1222+41_1222+42delCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:CTG,C:78:47:0:74:4,74:98,2246:0.00,253.29:0.00,147.46:0.00,105.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.5,5.4:0,0:0,0:147,88:1,63:1,36:NM_032348.2(MXRA8) c.1222+41_1222+42delCA,NM_032348.2(MXRA8) c.1222+41_1222+42delCA:NOT_FOUND,NOT_FOUND:0.87446,0.87446 1 1289487 . C . . NT END=1289572;NT GT ./. 1 1289613 . C . . NT END=1289733;NT GT ./. 1 1289890 . C . . NT END=1290061;NT GT ./. 1 1289911 rs4970365 G A 378 nt VT=SNV;PN=G;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.1715,A/0.8285;Gene=MXRA8/NM_001282585.1/0;CC=c.950-22C>T;VC=Intron;Gene=MXRA8/NM_001282584.1/0;CC=c.647-22C>T;VC=Intron;Gene=MXRA8/NM_032348.3/0;CC=c.950-22C>T;VC=Intron;Gene=MXRA8/NM_001282583.1/0;CC=c.923-22C>T;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.950-22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:105:66:0:0:103,2:3295,27:377.62,0.79:169.93,0.00:207.68,0.79:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,136.0:0,0:0,0:83,82:62,68:34,26:NM_032348.2(MXRA8) c.950-22C>T,NM_032348.2(MXRA8) c.950-22C>T:0.84,0.84:0.887059,0.887059 1 1290533 . c . . NT END=1290623;NT GT ./. 1 1290606 . C G 9 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=71;Gene=MXRA8/NM_001282585.1/0;CC=c.478+18G>C;VC=Intron;Gene=MXRA8/NM_001282584.1/0;CC=c.175+18G>C;VC=Intron;Gene=MXRA8/NM_032348.3/0;CC=c.478+18G>C;VC=Intron;Gene=MXRA8/NM_001282583.1/0;CC=c.451+18G>C;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.478+18G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,G,T:71:46:0:0:62,8,1:1696,159,12:0.00,9.16,-0.17:0.00,-1.77,-0.27:0.00,10.93,0.10:0.00,0.94,0.00:0.00,0.98,0.00:0.00,0.90,0.00:60,60,60:24.3,85.8,115.0:0,0,0:0,0,0:71,44,45:72,69,67:36,29,0:-,NM_032348.2(MXRA8) c.478+18G>C:-,NOT_FOUND:-,NOT_FOUND 1 1290726 . C . . NT END=1290829;NT GT ./. 1 1291133 . C . . NT END=1292060;NT GT ./. 1 1291159 rs201260508 GA G 133 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=416;Gene=MXRA8/NM_001282585.1/0;CC=c.74-28delT;VC=Intron;Gene=MXRA8/NM_001282584.1/0;CC=c.74-435delT;VC=Intron;Gene=MXRA8/NM_032348.3/0;CC=c.74-28delT;VC=Intron;Gene=MXRA8/NM_001282583.1/0;CC=c.47-28delT;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.74-28delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:GA,G:40:9:0:38:2,38:57,1179:0.00,132.58:0.00,28.23:0.00,104.34:0.00,1.00:0.00,1.00:0.00,1.00:60,70:43.0,18.2:1,0:0,0:128,117:22,31:21,15:NM_032348.2(MXRA8) c.74-28delT,NM_032348.2(MXRA8) c.74-28delT:0.98,0.98:0.995352,0.995352 1 1292085 . C . . NT END=1293835;NT GT ./. 1 1293764 rs34841888 G C 184 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.6833,C/0.3167;Gene=MXRA8/NM_001282585.1/0;CC=c.49+72C>G;VC=Intron;Gene=MXRA8/NM_001282584.1/0;CC=c.49+72C>G;VC=Intron;Gene=MXRA8/NM_032348.3/0;CC=c.49+72C>G;VC=Intron;Gene=MXRA8/NM_001282583.1/0;CC=c.23-1680C>G;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.49+72C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:45:0:0:52:1594:183.99:145.32:38.67:1.00:1.00:1.00:60:69.5:0:0:54:88:30:NM_032348.2(MXRA8) c.49+72C>G,NM_032348.2(MXRA8) c.49+72C>G:0.39,0.39:0.623084,0.623084 1 1294287 rs12731385 C A 402 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.2883,A/0.7117;Gene=MXRA8/NM_001282583.1/0;CC=c.23-2203G>T;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.-43-360G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:114:79:0:0:111,3:3536,29:401.54,0.00:217.61,0.00:183.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,28.3:0,0:0,0:60,94:82,55:31,18:NM_032348.2(MXRA8) c.-31-u372G>T,NM_032348.2(MXRA8) c.-31-u372G>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 1294518 rs34782209 C T 491 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.3179,T/0.6821;Gene=MXRA8/NM_001282583.1/0;CC=c.22+2104G>A;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.-43-591G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:131:81:0:0:131:4283:490.60:227.99:262.61:1.00:1.00:1.00:60:41.2:0:0:89:58:33:NM_032348.2(MXRA8) c.-31-u603G>A,NM_032348.2(MXRA8) c.-31-u603G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 1294923 . G . . NT END=1309180;NT GT ./. 1 1294928 rs2649608 A G 378 nt VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.04872,G/0.9513;Gene=MXRA8/NM_001282583.1/0;CC=c.22+1694T>C;VC=Intron;Gene=MXRA8/NM_001282582.1/1;CC=c.-43-1001T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:107:53:0:0:107:3275:378.14:120.95:257.19:1.00:1.00:1.00:60:43.3:0:0:81:66:33:NM_032348.2(MXRA8) c.-31-u1013T>C,NM_032348.2(MXRA8) c.-31-u1013T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 1308982 rs2765015 A G 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.04593,G/0.9541 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:258:30.04:30.04:0.00:1.00:1.00:0.00:60:56.9:0:0:86:65:22:chr1 g.1308981A>G (intergenic),chr1 g.1308981A>G (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 1 1309283 . C . . NT END=1309379;NT GT ./. 1 1309826 . C . . NT END=1310084;NT GT ./. 1 1310074 rs2765035 C G 185 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.1709,G/0.8291;Gene=AURKAIP1/NM_001127229.1/1;CC=c.52+11G>C;VC=Intron;Gene=AURKAIP1/NM_017900.2/0;CC=c.52+11G>C;VC=Intron;Gene=AURKAIP1/NM_001127230.1/0;CC=c.52+11G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:C,G:51:39:0:0:1,50:6,1630:0.00,185.47:0.00,97.56:0.00,87.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:88.0,38.0:0,0:0,0:28,52:123,96:0,32:NM_017900.2(AURKAIP1) c.52+11G>C,NM_017900.2(AURKAIP1) c.52+11G>C:0.84,0.84:0.859385,0.859385 1 1310137 . G . . NT END=1322609;NT GT ./. 1 1322963 . C . . NT END=1323155;NT GT ./. 1 1323078 rs12729599 A G 171 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.6849,G/0.3151;Gene=CCNL2/NM_030937.4/1;CC=c.1211+79T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:G:48:29:0:0:48:1484:170.97:86.38:84.59:1.00:1.00:1.00:60:42.0:1:0:67:83:38:NM_030937.4(CCNL2) c.1211+79T>C,NM_030937.4(CCNL2) c.1211+79T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 1 1323143 rs35654872 CCT C 216 nt VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=CCT/0.6565,C/0.3435;NP=2529;Gene=CCNL2/NM_030937.4/1;CC=c.1211+12_1211+13delAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:138:CCT,C:60:48:0:59:1,59:32,1896:0.00,215.53:0.00,140.89:0.00,74.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.0,18.5:0,0:0,0:150,59:-6,91:0,35:NM_030937.4(CCNL2) c.1211+12_1211+13delAG,NM_030937.4(CCNL2) c.1211+12_1211+13delAG:0.42,0.42:0.635949,0.635949 1 1323250 . C . . NT END=1323332;NT GT ./. 1 1323446 . C . . NT END=1325608;NT GT ./. 1 1325493 rs546221507 CA C 22 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=CA/0.6294,C/0.3706;NP=2;PC=0.091;Gene=CCNL2/NM_030937.4/1;CC=c.1006+116delT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:27:30:1:12:18,1,8:617,34,356:0.00,2.14,22.30:0.00,2.14,22.37:0.00,-0.01,-0.07:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.51:60,60,60:32.6,0.0,8.6:0,0,3:0,0,0:51,44,35:97,107,116:33,0,16:-,NM_030937.4(CCNL2) c.1006+116delT:-,NOT_FOUND:-,NOT_FOUND 1 1325752 . C . . NT END=1325837;NT GT ./. 1 1325944 . C . . NT END=1326144;NT GT ./. 1 1326246 . C . . NT END=1326524;NT GT ./. 1 1326471 . G GA 8 rn VT=INS;SST=Single;DP=35;NP=12;PC=0.015;Gene=CCNL2/NM_030937.4/1;CC=c.660-227dupT;VC=Intron;DM=CCNL2/Cyclin_C;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:G,GA,D:35:31:4:3:29,4,2:969,118,65:0.00,8.42,4.23:0.00,7.32,4.41:0.00,1.10,-0.18:0.00,0.61,0.00:0.00,0.93,0.00:0.00,0.66,0.00:60,60,60:14.8,22.2,0.0:0,0,0:0,0,0:59,56,35:92,93,115:31,33,9:-,NM_030937.4(CCNL2) c.660-227_660-226insT:-,NOT_FOUND:-,NOT_FOUND 1 1326956 . C . . NT END=1327667;NT GT ./. 1 1328184 . C . . NT END=1328774;NT GT ./. 1 1328841 . C . . NT END=1330772;NT GT ./. 1 1330918 . C . . NT END=1333611;NT GT ./. 1 1333436 rs1240743 C A 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1376,A/0.8624;Gene=CCNL2/NM_030937.4/1;CC=c.473+177G>T;VC=Intron;Gene=CCNL2/NM_001039577.3/0;CC=c.473+177G>T;VC=Intron;DM=CCNL2/Cyclin_N;DM=CCNL2/Cyclin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C:13:13:0:0:3,10:80,306:6.39,0.00:6.39,0.00:0.00,0.00:0.58,0.00:0.58,0.00:0.00,0.00:60,60:54.7,16.2:0,0:0,0:49,38:102,113:2,25:NM_030937.4(CCNL2) c.473+177G>T,-:0.82,-:NOT_FOUND,- 1 1333799 . C . . NT END=1333975;NT GT ./. 1 1334052 . C . . NT END=1334397;NT GT ./. 1 1334687 . T . . NT END=1337462;NT GT ./. 1 1337982 . C . . NT END=1341111;NT GT ./. 1 1341267 . C . . NT END=1342288;NT GT ./. 1 1342400 . C . . NT END=1342510;NT GT ./. 1 1342598 . G . . NT END=1354479;NT GT ./. 1 1342612 rs2275915 G C 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.5697,C/0.4303;Gene=MRPL20/NM_017971.3/1;CC=c.-15C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:61:33:0:0:35,26:991,788:97.26,0.00:35.26,0.00:61.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,5.6:0,0:0,0:91,98:54,45:34,33:NM_017971.3(MRPL20) c.-15C>G,-:0.39,-:0.190218,- 1 1354930 . C . . NT END=1355431;NT GT ./. 1 1355973 . C . . NT END=1356176;NT GT ./. 1 1356386 . C . . NT END=1361507;NT GT ./. 1 1361766 . G . . NT END=1362933;NT GT ./. 1 1363168 . C . . NT END=1371128;NT GT ./. 1 1371202 . G . . NT END=1372306;NT GT ./. 1 1372865 . G . . NT END=1374460;NT GT ./. 1 1375168 . G . . NT END=1386063;NT GT ./. 1 1386139 . G . . NT END=1387425;NT GT ./. 1 1387503 . G . . NT END=1387744;NT GT ./. 1 1387667 rs1781144 C G 297 nt VT=SNV;PN=G;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=3331;Gene=ATAD3C/NM_001039211.2/1;CC=c.153-78C>G;VC=Intron;DM=ATAD3C/DUF3523 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:66:0:0:83:2579:297.11:200.43:96.68:1.00:1.00:1.00:60:39.2:0:0:38:113:30:NM_001039211.2(ATAD3C) c.153-78C>G,NM_001039211.2(ATAD3C) c.153-78C>G:1,1:NOT_FOUND,NOT_FOUND 1 1387815 . G . . NT END=1389724;NT GT ./. 1 1389881 . G . . NT END=1390839;NT GT ./. 1 1390900 . G . . NT END=1391170;NT GT ./. 1 1391297 . G . . NT END=1391604;NT GT ./. 1 1391730 . G . . NT END=1392508;NT GT ./. 1 1392561 . G . . NT END=1394540;NT GT ./. 1 1394612 . G . . NT END=1396129;NT GT ./. 1 1395449 . AT A 15 rn VT=DEL;SST=Single;DP=28;PC=0.001;Gene=ATAD3C/NM_001039211.2/1;CC=c.813-662delT;VC=Intron;DM=ATAD3C/AAA;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:AT,T,I,A:27:6:1:7:19,1,1,6:557,24,33,211:0.00,1.14,2.03,14.66:0.00,-0.05,-0.05,1.24:0.00,1.19,2.08,13.42:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.99:60,60,60,60:6.2,58.0,11.0,47.2:0,0,0,1:0,0,0,0:123,6,112,113:22,145,39,38:17,0,0,7:-,NM_001039211.2(ATAD3C) c.813-680delT:-,NOT_FOUND:-,NOT_FOUND 1 1395983 rs2801372 T C 317 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.02676,C/0.9732;Gene=ATAD3C/NM_001039211.2/1;CC=c.813-147T>C;VC=Intron;DM=ATAD3C/AAA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:92:55:0:0:92:2738:317.43:154.69:162.74:1.00:1.00:1.00:60:39.1:0:0:87:61:28:NM_001039211.2(ATAD3C) c.813-147T>C,NM_001039211.2(ATAD3C) c.813-147T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 1396298 . G . . NT END=1397979;NT GT ./. 1 1398089 . G . . NT END=1403763;NT GT ./. 1 1403911 . G . . NT END=1407264;NT GT ./. 1 1407470 . G . . NT END=1412653;NT GT ./. 1 1412731 . G . . NT END=1413879;NT GT ./. 1 1414126 . G . . NT END=1414428;NT GT ./. 1 1414489 . G . . NT END=1416246;NT GT ./. 1 1416317 . G . . NT END=1417517;NT GT ./. 1 1417684 . G . . NT END=1417924;NT GT ./. 1 1417696 rs819970 C G 532 nt VT=SNV;PN=C;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.1084,G/0.8916;Gene=ATAD3B/NM_031921.4/1;CC=c.680+13C>G;VC=Intron;Gene=ATAD3B/NM_001317238/0;CC=c.542+13C>G;VC=Intron;DM=ATAD3B/DUF3523 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:146:75:0:0:146:4630:532.19:203.68:328.51:1.00:1.00:1.00:51:47.8:0:0:88:63:38:NM_031921.4(ATAD3B) c.680+13C>G,NM_031921.4(ATAD3B) c.680+13C>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 1417995 . G . . NT END=1420395;NT GT ./. 1 1420552 . G . . NT END=1421161;NT GT ./. 1 1420637 rs35871802 C T 183 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.9788,T/0.02117;Gene=ATAD3B/NM_031921.4/1;CC=c.906+86C>T;VC=Intron;Gene=ATAD3B/NM_001317238/0;CC=c.768+86C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:17:0:0:42,60:1260,1850:0.00,183.48:0.00,21.84:0.00,161.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.4,43.8:0,0:0,0:111,113:37,37:26,27:-,NM_031921.4(ATAD3B) c.906+86C>T:-,0.02:-,NOT_FOUND 1 1420704 rs4970453 C T 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.9653,T/0.03474;Gene=ATAD3B/NM_031921.4/1;CC=c.906+153C>T;VC=Intron;Gene=ATAD3B/NM_001317238/0;CC=c.768+153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:0:0:0:22,19:617,639:0.00,60.72:0.00,0.00:0.00,60.72:0.00,1.00:0.00,0.00:0.00,1.00:60,60:38.2,38.5:0,0:0,0:106,91:45,58:24,39:-,NM_031921.4(ATAD3B) c.906+153C>T:-,0.04:-,NOT_FOUND 1 1421156 rs370530558 C T 223 nt VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=NA;NP=1;PC=0.019;Gene=ATAD3B/NM_031921.4/1;CC=c.907-6C>T;VC=Intron;Gene=ATAD3B/NM_001317238/0;CC=c.769-6C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:144:123:0:0:71,73:2261,2316:0.00,222.94:0.00,125.52:0.00,97.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,41.7:0,0:0,0:65,51:82,89:33,32:-,NM_031921.4(ATAD3B) c.907-6C>T:-,NOT_FOUND:-,0.000231 1 1421219 . G . . NT END=1421489;NT GT ./. 1 1421616 . G . . NT END=1421923;NT GT ./. 1 1422049 . G . . NT END=1423242;NT GT ./. 1 1423295 . G . . NT END=1424583;NT GT ./. 1 1424655 . G . . NT END=1425071;NT GT ./. 1 1425631 . C . . NT END=1425636;NT GT ./. 1 1425805 . G . . NT END=1425942;NT GT ./. 1 1426052 . G . . NT END=1430864;NT GT ./. 1 1431585 . G . . NT END=1444584;NT GT ./. 1 1444732 . G . . NT END=1447648;NT GT ./. 1 1447854 . G . . NT END=1447909;NT GT ./. 1 1448071 . G . . NT END=1451391;NT GT ./. 1 1451208 rs112465899 G A 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9694,A/0.03055;Gene=ATAD3A/NM_001170535.1/0;CC=c.206-184G>A;VC=Intron;Gene=ATAD3A/NM_018188.3/0;CC=c.206-184G>A;VC=Intron;Gene=ATAD3A/NM_001170536.1/1;CC=c.-32-184G>A;VC=Intron;DM=ATAD3A/AAA;DM=ATAD3A/DUF3523;DM=ATAD3A/DUF3523 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:10,10:335,292:32.25,0.00:32.40,0.00:-0.15,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:58.9,20.1:0,0:0,0:68,89:82,55:14,22:NM_018188.3(ATAD3A) c.206-184G>A,-:0.04,-:NOT_FOUND,- 1 1451469 . G . . NT END=1452546;NT GT ./. 1 1452793 . G . . NT END=1453095;NT GT ./. 1 1453156 . G . . NT END=1454300;NT GT ./. 1 1454371 . G . . NT END=1455520;NT GT ./. 1 1455687 . G . . NT END=1455927;NT GT ./. 1 1455998 . G . . NT END=1458123;NT GT ./. 1 1458109 rs185493637 G A 499 nt VT=SNV;PN=G;NN=T;SST=Single;DP=354;DB;DBA=NA;PAF=G/0.9946,A/0.005391;NP=66;PC=0.001;Gene=ATAD3A/NM_001170535.1/0;CC=c.751-15G>A;VC=Intron;Gene=ATAD3A/NM_018188.3/0;CC=c.895-15G>A;VC=Intron;Gene=ATAD3A/NM_001170536.1/1;CC=c.514-15G>A;VC=Intron;DM=ATAD3A/DUF3523;DM=ATAD3A/DUF3523 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:354:275:0:0:165,3,185,1:5253,35,6082,12:498.78,-0.27,0.00,-0.19:304.35,0.02,0.00,-0.08:194.43,-0.29,0.00,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:39.4,89.3,8.1,81.0:0,0,0,0:0,0,0,0:67,66,64,44:75,56,77,103:33,11,36,0:NM_018188.3(ATAD3A) c.895-15G>A,-:0.01,-:0.008849,- 1 1458280 . G . . NT END=1458890;NT GT ./. 1 1458948 . G . . NT END=1459218;NT GT ./. 1 1459345 . G . . NT END=1459652;NT GT ./. 1 1459778 . G . . NT END=1460619;NT GT ./. 1 1460672 . G . . NT END=1461840;NT GT ./. 1 1461912 . G . . NT END=1463074;NT GT ./. 1 1463243 . G . . NT END=1464602;NT GT ./. 1 1463338 . C CT 22 idl,rn VT=INS;SST=Single;DP=58;PC=0.023;Gene=ATAD3A/NM_001170535.1/0;CC=c.1505+114_1505+115insT;VC=Intron;Gene=ATAD3A/NM_018188.3/0;CC=c.1649+114_1649+115insT;VC=Intron;Gene=ATAD3A/NM_001170536.1/1;CC=c.1268+114_1268+115insT;VC=Intron;DM=ATAD3A/AAA;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,CT,D:52:13:13:9:36,10,6:1175,368,234:0.00,21.99,11.16:0.00,3.79,1.93:0.00,18.20,9.23:0.00,0.99,0.00:0.00,0.86,0.00:0.00,1.00,0.00:60,60,60:16.9,55.4,41.7:0,3,3:0,0,0:130,87,103:18,53,48:13,21,22:-,NM_018188.3(ATAD3A) c.1649+96_1649+97insT:-,NOT_FOUND:-,NOT_FOUND 1 1464712 . G . . NT END=1469305;NT GT ./. 1 1469453 . G . . NT END=1470738;NT GT ./. 1 1469546 rs3128344 G A 97 nt VT=SNV;PN=G;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.1615,A/0.8385;Gene=ATAD3A/NM_001170535.1/0;CC=c.*94G>A;VC=3UTR;Gene=ATAD3A/NM_018188.3/0;CC=c.*94G>A;VC=3UTR;Gene=ATAD3A/NM_001170536.1/1;CC=c.*94G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:34:0:0:34,51:1052,1608:96.58,0.00:27.84,0.00:68.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.4,9.4:0,0:0,0:106,89:38,62:28,44:NM_018188.3(ATAD3A) c.*94G>A,-:0.73,-:NOT_FOUND,- 1 1469598 rs9439464 C G 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.2794,G/0.7206;PC=0.004;Gene=ATAD3A/NM_001170535.1/0;CC=c.*146C>G;VC=3UTR;Gene=ATAD3A/NM_018188.3/0;CC=c.*146C>G;VC=3UTR;Gene=ATAD3A/NM_001170536.1/1;CC=c.*146C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:59:26:0:0:37,21,1:1126,664,11:0.00,59.96,-0.08:0.00,15.61,0.09:0.00,44.34,-0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,51,56:6.6,94.5,34.0:0,0,0:0,0,0:66,57,107:85,94,43:44,28,0:-,NM_018188.3(ATAD3A) c.*146C>G:-,0.47:-,NOT_FOUND 1 1469599 rs3128343 G C 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.278,C/0.722;NP=205;PC=0.083;Gene=ATAD3A/NM_001170535.1/0;CC=c.*147G>C;VC=3UTR;Gene=ATAD3A/NM_018188.3/0;CC=c.*147G>C;VC=3UTR;Gene=ATAD3A/NM_001170536.1/1;CC=c.*147G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:59:26:0:0:20,38,1:591,1100,13:52.43,0.00,0.01:15.05,0.00,-0.12:37.37,0.00,0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,60,39:86.9,7.2,247.0:0,0,0:0,0,0:58,69,86:93,81,64:27,43,0:NM_018188.3(ATAD3A) c.*147G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 1470888 . C . . NT END=1470968;NT GT ./. 1 1471178 . C . . NT END=1475063;NT GT ./. 1 1474871 rs9439465 G C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3013,C/0.6987;PC=0.003;Gene=TMEM240/NM_001114748.1/1;CC=c.164+193C>G;VC=Intron;DM=TMEM240/TMEM240 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,G:13:13:0:0:6,7:193,169:18.33,0.00:16.61,0.00:1.72,0.00:0.97,0.00:0.97,0.00:0.64,0.00:60,60:54.2,44.0:0,0:0,0:38,20:112,129:14,3:NM_001114748.1(TMEM240) c.164+193C>G,-:0.63,-:NOT_FOUND,- 1 1475171 . C . . NT END=1475669;NT GT ./. 1 1475727 . c . . NT END=1477445;NT GT ./. 1 1477548 . C . . NT END=1479248;NT GT ./. 1 1479368 . C . . NT END=1480242;NT GT ./. 1 1480383 . C . . NT END=1500152;NT GT ./. 1 1500297 . C . . NT END=1509857;NT GT ./. 1 1509825 rs6666293 A G 153 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.2987,G/0.7013;Gene=SSU72/NM_014188.2/1;CC=c.80+33T>C;VC=Intron;DM=SSU72/Ssu72 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:84:72:0:0:32,1,51:1038,12,1532:0.00,0.02,153.40:0.00,0.07,108.27:0.00,-0.05,45.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.6,23.0,39.9:0,0,0:0,0,0:48,113,36:102,36,114:22,0,24:-,NM_014188.2(SSU72) c.80+33T>C:-,0.62:-,0.481024 1 1509938 . G . . NT END=1534714;NT GT ./. 1 1510035 rs70949599 GGC G 87 nt VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=GGC/0.3311,G/0.6689;DB;DBA=NA;PAF=GGC/0.3311,G/0.6689;NP=156;PC=0.002;Gene=SSU72/NM_014188.2/1;CC=c.-100_-99delGC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GGC,G:61:12:0:29:1,31,29:11,929,907:-0.03,0.00,86.50:-0.03,0.00,10.22:-0.00,0.00,76.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:140.0,6.8,7.9:1,0,0:0,0,0:99,119,120:12,32,25:0,24,19:-,NM_014188.2(SSU72) c.-100_-99delGC:-,0.59:-,NOT_FOUND 1 1535396 . C . . NT END=1550839;NT GT ./. 1 1541047 . G C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,G:5:2:0:0:4,1:118,34:12.60,0.00:7.86,0.00:4.74,0.00:0.96,0.00:0.97,0.00:0.99,0.00:49,48:186.8,97.0:0,0:0,0:61,123:62,-1:22,0:NM_001242659.1(C1orf233) c.-81-u5571C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1541049 . C G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;NP=67;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,G:7:3:0:0:1,6:30,185:0.00,20.10:0.00,9.87:0.00,10.22:0.00,1.00:0.00,1.00:0.00,1.00:48,49:97.0,195.3:0,0:0,0:125,95:-3,42:0,23:-,NM_001242659.1(C1orf233) c.-81-u5573G>C:-,NOT_FOUND:-,NOT_FOUND 1 1541067 . C A,G 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:38:A,C,G:6:2:0:0:3,1,2:76,34,69:7.81,0.00,6.72:0.00,0.00,6.90:7.81,0.00,-0.18:0.73,0.00,0.00:0.79,0.00,0.00:0.51,0.00,0.00:47,48,49:179.7,97.0,204.0:0,0,0:0,0,0:132,143,81:11,-21,45:8,0,16:NM_001242659.1(C1orf233) c.-81-u5591G>T,NM_001242659.1(C1orf233) c.-81-u5591G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1541068 . T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:C,T:7:2:0:0:4,3:116,82:11.43,0.00:-0.73,0.00:12.17,0.00:0.90,0.00:0.85,0.00:0.98,0.00:47,49:191.0,168.3:0,0:0,0:131,99:15,25:6,33:NM_001242659.1(C1orf233) c.-81-u5592A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1541511 . C CGTGGG 9 nt VT=INS;SST=Single;DP=6;PC=0.007;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,T,CGTGGG:6:6:3:0:2,1,3:45,35,87:0.00,3.04,8.64:0.00,1.44,7.50:0.00,1.60,1.14:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.79:60,60,61:191.5,67.0,67.0:0,0,0:0,0,0:31,19,13:97,69,80:12,0,0:-,NM_001242659.1(C1orf233) c.-81-u6036_-81-u6035insCCCAC:-,NOT_FOUND:-,NOT_FOUND 1 1541517 . C G 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,G:6:6:0:0:3,3:59,100:0.00,9.65:0.00,6.32:0.00,3.33:0.00,0.73:0.00,0.73:0.00,0.89:60,61:149.7,67.0:0,0:0,0:25,24:85,69:0,0:-,NM_001242659.1(C1orf233) c.-81-u6041G>C:-,NOT_FOUND:-,NOT_FOUND 1 1550702 rs4648611 A G 485 nt VT=SNV;PN=T;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=A/0.5228,G/0.4772 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:129:120:0:0:1,128:12,4241:0.13,484.56:0.13,375.75:0.00,108.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,38.1:0,0:0,0:47,36:104,112:0,28:NM_080875.2(MIB2) c.-45-u93A>G,NM_080875.2(MIB2) c.-45-u93A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 1 1551014 . G . . NT END=1551244;NT GT ./. 1 1551111 rs140809077 C G 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.997,G/0.002995;NP=18;Gene=MIB2/NM_001170686.1/0;CC=c.174+98C>G;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.174+98C>G;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.174+98C>G;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.174+98C>G;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:103:46:0:0:60,43:1787,1308:0.00,120.90:0.00,35.93:0.00,84.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,39.7:0,0:0,0:101,100:41,51:32,29:-,NM_080875.2(MIB2) c.174+98C>G:-,0.01:-,NOT_FOUND 1 1551249 rs9726211 C T 590 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=161;DB;DBA=NA;PAF=C/0.5212,T/0.4788;PC=0.005;Gene=MIB2/NM_001170686.1/0;CC=c.174+236C>T;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.174+236C>T;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.174+236C>T;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.174+236C>T;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.-361C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:161:133:0:0:1,160:6,5140:0.02,589.55:0.02,412.82:0.00,176.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,42.8:0,0:0,0:28,50:123,98:0,30:NM_080875.2(MIB2) c.174+236C>T,NM_080875.2(MIB2) c.174+236C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 1551428 rs111715097 C T 270 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=198;DB;DBA=NA;PAF=C/0.8512,T/0.1488;Gene=MIB2/NM_001170686.1/0;CC=c.174+415C>T;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.174+415C>T;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.174+415C>T;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.174+415C>T;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.-182C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:198:112:0:0:104,1,93:3315,8,2845:0.00,-0.19,269.58:0.00,-0.09,110.09:0.00,-0.11,159.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.4,117.0,39.3:0,0,0:0,0,0:91,27,92:59,124,58:29,0,30:-,NM_080875.2(MIB2) c.174+415C>T:-,0.19:-,NOT_FOUND 1 1551481 . G . . NT END=1551887;NT GT ./. 1 1551927 rs7418389 T C 256 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.523,C/0.477;PC=0.002;Gene=MIB2/NM_001170686.1/0;CC=c.214T>C;ProtCh=p.F72L;VC=Missense;Gene=MIB2/NM_001170687.1/0;CC=c.214T>C;ProtCh=p.F72L;VC=Missense;Gene=MIB2/NM_001170688.1/0;CC=c.214T>C;ProtCh=p.F72L;VC=Missense;Gene=MIB2/NM_080875.2/1;CC=c.214T>C;ProtCh=p.F72L;VC=Missense;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.-90T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:54:0:0:67:2237:255.52:156.94:98.58:1.00:1.00:1.00:60:36.9:0:0:69:75:24:NM_080875.2(MIB2) c.214T>C (p.Phe72Leu),NM_080875.2(MIB2) c.214T>C (p.Phe72Leu):0.51,0.51:0.670926,0.670926 1 1551995 . G . . NT END=1558768;NT GT ./. 1 1558792 rs12755088 T C 765 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=207;DB;DBA=NA;PAF=T/0.2264,C/0.7736,G/.;Gene=MIB2/NM_001170686.1/0;CC=c.305T>C;ProtCh=p.M102T;VC=Missense;Gene=MIB2/NM_001170687.1/0;CC=c.282-19T>C;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.305T>C;ProtCh=p.M102T;VC=Missense;Gene=MIB2/NM_080875.2/1;CC=c.305T>C;ProtCh=p.M102T;VC=Missense;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.-22-19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:207:175:0:0:207:6669:765.24:546.83:218.41:1.00:1.00:1.00:60:41.3:0:0:64:86:36:NM_080875.2(MIB2) c.305T>C (p.Met102Thr),NM_080875.2(MIB2) c.305T>C (p.Met102Thr):0.76,0.76:0.885588,0.885588 1 1559080 . G . . NT END=1559153;NT GT ./. 1 1559326 . G . . NT END=1560174;NT GT ./. 1 1559466 rs28617190 G A 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.6597,A/0.3403;Gene=MIB2/NM_001170686.1/0;CC=c.764+141G>A;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.722+141G>A;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.764+141G>A;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.764+141G>A;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.419+141G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:0:0:0:14,17:426,537:40.02,0.00:0.00,0.00:40.02,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.2,3.8:0,0:0,0:108,111:42,40:33,29:NM_080875.2(MIB2) c.764+141G>A,-:0.35,-:NOT_FOUND,- 1 1559971 rs12748433 C T 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1865,T/0.8135;Gene=MIB2/NM_001170686.1/0;CC=c.765-204C>T;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.723-204C>T;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.765-204C>T;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.765-204C>T;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.420-204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:199:23.64:23.64:0.00:1.00:1.00:0.00:60:36.6:0:0:13:137:4:NM_080875.2(MIB2) c.765-204C>T,NM_080875.2(MIB2) c.765-204C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 1560100 rs28441650 G A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.8484,A/0.1516;Gene=MIB2/NM_001170686.1/0;CC=c.765-75G>A;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.723-75G>A;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.765-75G>A;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.765-75G>A;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.420-75G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:34:0:0:12,23:348,662:30.75,0.00:28.30,0.00:2.46,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:66.8,12.0:0,0:0,0:37,22:113,129:25,12:NM_080875.2(MIB2) c.765-75G>A,-:0.19,-:NOT_FOUND,- 1 1560282 . G . . NT END=1560370;NT GT ./. 1 1560566 . G . . NT END=1560665;NT GT ./. 1 1560809 . G . . NT END=1560925;NT GT ./. 1 1561034 . G . . NT END=1562029;NT GT ./. 1 1561185 rs72634817 G A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8468,A/0.1532;Gene=MIB2/NM_001170686.1/0;CC=c.1305+152G>A;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.1275+152G>A;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.1122+152G>A;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.1317+152G>A;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.777+152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,G:12:0:0:0:6,6:175,199:16.75,0.00:0.00,0.00:16.75,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:60.7,15.5:0,0:0,0:111,103:34,46:28,17:NM_080875.2(MIB2) c.1317+152G>A,-:0.19,-:NOT_FOUND,- 1 1562135 . G . . NT END=1562216;NT GT ./. 1 1562380 . G . . NT END=1562453;NT GT ./. 1 1562588 . G . . NT END=1562675;NT GT ./. 1 1562825 . G . . NT END=1563052;NT GT ./. 1 1562895 rs12735861 C T 168 nt VT=SNV;PN=C;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.4517,T/0.5483;PC=0.803;Gene=MIB2/NM_001170686.1/0;CC=c.1856+71C>T;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.1826+71C>T;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.1673+71C>T;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.1868+71C>T;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.1328+71C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:132:68:0:0:72,2,58:2014,24,1792:0.00,-0.03,168.09:0.00,-0.20,67.32:0.00,0.17,100.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.7,26.5,66.3:0,0,0:0,0,0:104,63,105:42,79,34:30,24,32:-,NM_080875.2(MIB2) c.1868+71C>T:-,0.54:-,NOT_FOUND 1 1563210 . G . . NT END=1563398;NT GT ./. 1 1563560 . G . . NT END=1563652;NT GT ./. 1 1563780 . G . . NT END=1563868;NT GT ./. 1 1563789 rs74892851 C A 263 nt VT=SNV;PN=G;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=C/0.8492,A/0.1508,T/.;Gene=MIB2/NM_001170686.1/0;CC=c.2301+10C>A;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.2271+10C>A;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.2118+10C>A;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.2313+10C>A;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.1773+10C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:157:112:0:0:85,72:2698,2406:263.13,0.00:140.21,0.00:122.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,7.4:0,0:0,0:74,87:73,59:38,26:NM_080875.2(MIB2) c.2313+10C>A,-:0.18,-:0.277194,- 1 1564103 . G . . NT END=1564512;NT GT ./. 1 1564194 rs3935032 C T 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.849,T/0.151;Gene=MIB2/NM_001170686.1/0;CC=c.2535+92C>T;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.2505+92C>T;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.2352+92C>T;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.2547+92C>T;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.2007+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:54:7:0:0:1,24,29:7,747,887:-0.12,0.00,86.67:0.05,0.00,5.58:-0.17,0.00,81.10:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:159.0,13.9,35.1:0,0,0:0,0,0:44,84,98:107,61,52:0,18,30:-,NM_080875.2(MIB2) c.2547+92C>T:-,0.19:-,NOT_FOUND 1 1564692 . G . . NT END=1564764;NT GT ./. 1 1564712 rs61774907 G T 268 nt VT=SNV;PN=G;NN=A;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.7794,T/0.2206;Gene=MIB2/NM_001170686.1/0;CC=c.2714+21G>T;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.2684+21G>T;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.2531+21G>T;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.2726+21G>T;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.2186+21G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:196:137:0:0:96,100:3140,2798:0.00,268.08:0.00,132.85:0.00,135.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,39.8:0,0:0,0:68,84:74,66:33,39:-,NM_080875.2(MIB2) c.2726+21G>T:-,0.27:-,0.223833 1 1564947 . G . . NT END=1565018;NT GT ./. 1 1564952 rs112177324 TG T 297 rn VT=DEL;SST=Single;DP=214;DB;DBA=NA;PAF=NA;NP=510;PC=0.949;Gene=MIB2/NM_001170686.1/0;CC=c.2896+12delG;VC=Intron;Gene=MIB2/NM_001170687.1/0;CC=c.2866+12delG;VC=Intron;Gene=MIB2/NM_001170688.1/0;CC=c.2713+12delG;VC=Intron;Gene=MIB2/NM_080875.2/1;CC=c.2908+12delG;VC=Intron;Gene=MIB2/NR_033183.1/0;VC=NonCoding;Gene=MIB2/NM_001170689.1/0;CC=c.2187-61delG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TG,T:214:140:0:102:2,112,100:24,3419,3129:-0.11,0.00,296.98:-0.14,0.00,145.95:0.03,0.00,151.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:104.0,11.2,8.4:0,0,0:0,0,0:108,77,65:42,71,83:16,35,29:-,NM_080875.2(MIB2) c.2908+7delG:-,0.19:-,0.293732 1 1565085 . G . . NT END=1565671;NT GT ./. 1 1565911 . G . . NT END=1567597;NT GT ./. 1 1566068 rs28730454 A G 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:0:0:1:7:172:20.46:0.00:20.46:1.00:0.00:1.00:60:93.1:0:0:106:33:18:NM_006983.1(MMP23B) c.-38-u1492A>G,NM_006983.1(MMP23B) c.-38-u1492A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 1567754 . G . . NT END=1568161;NT GT ./. 1 1568293 . G . . NT END=1568359;NT GT ./. 1 1568500 . G . . NT END=1568566;NT GT ./. 1 1568735 . G . . NT END=1569126;NT GT ./. 1 1569292 . G . . NT END=1569367;NT GT ./. 1 1569479 . G . . NT END=1569580;NT GT ./. 1 1569712 . G . . NT END=1569826;NT GT ./. 1 1570002 . G . . NT END=1586817;NT GT ./. 1 1570039 rs2235535 G C 17 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.8928,G/0.1072;NP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:C,G:65:31:0:0:8,57:242,1812:17.50,0.00:15.80,0.00:1.70,0.00:0.95,0.00:0.94,0.00:0.99,0.00:40,50:33.9,8.4:0,0:0,0:83,122:67,24:38,21:chr1 g.1570038G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 1571640 rs61774909 G T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7558,T/0.2442;NP=523;PC=0.002;Gene=CDK11B/NM_001291345.1/0;CC=c.2030+55C>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.2099+55C>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.2060+55C>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.1298+55C>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.1958+55C>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.1415+55C>A;VC=Intron;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:G,T:23:22:0:0:6,17:150,487:0.00,51.02:0.00,48.42:0.00,2.60:0.00,1.00:0.00,1.00:0.00,1.00:40,40:17.0,38.6:0,0:0,0:44,60:106,88:41,42:-,NM_033492.1(CDK11B) c.2060+55C>A:-,NOT_FOUND:-,NOT_FOUND 1 1571791 rs201006058 G A 10 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=20;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.1934C>T;ProtCh=p.A645V;VC=Missense;Gene=CDK11B/NM_001787.2/0;CC=c.2003C>T;ProtCh=p.A668V;VC=Missense;Gene=CDK11B/NM_033486.2/0;CC=c.1964C>T;ProtCh=p.A655V;VC=Missense;Gene=CDK11B/NM_033487.2/0;CC=c.1202C>T;ProtCh=p.A401V;VC=Missense;Gene=CDK11B/NM_033489.2/1;CC=c.1862C>T;ProtCh=p.A621V;VC=Missense;Gene=CDK11B/NM_033490.2/0;CC=c.1319C>T;ProtCh=p.A440V;VC=Missense;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,G:62:41:0:0:5,57:156,1936:10.45,0.00:9.67,0.00:0.78,0.00:0.69,0.00:0.90,0.00:0.93,0.00:40,60:84.4,6.7:0,0:0,0:22,89:128,62:10,38:NM_033492.1(CDK11B) c.1964C>T (p.Ala655Val),-:NOT_FOUND,-:NOT_FOUND,- 1 1571802 rs116527252 G A 12 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=28;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.1923C>T;ProtCh=p.S641=;VC=Silent;Gene=CDK11B/NM_001787.2/0;CC=c.1992C>T;ProtCh=p.S664=;VC=Silent;Gene=CDK11B/NM_033486.2/0;CC=c.1953C>T;ProtCh=p.S651=;VC=Silent;Gene=CDK11B/NM_033487.2/0;CC=c.1191C>T;ProtCh=p.S397=;VC=Silent;Gene=CDK11B/NM_033489.2/1;CC=c.1851C>T;ProtCh=p.S617=;VC=Silent;Gene=CDK11B/NM_033490.2/0;CC=c.1308C>T;ProtCh=p.S436=;VC=Silent;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:60:40:0:0:5,55:170,1799:11.92,0.00:13.16,0.00:-1.24,0.00:0.69,0.00:0.90,0.00:0.93,0.00:42,60:85.8,7.1:0,0:0,0:27,61:124,90:6,38:NM_033492.1(CDK11B) c.1953C>T (p.(=)),-:0.01,-:0.010905,- 1 1572939 rs28688376 T C 91 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.764,C/0.236;Gene=CDK11B/NM_001291345.1/0;CC=c.1429-64A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1498-64A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1459-64A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.697-64A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.1357-64A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.814-64A>G;VC=Intron;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase;DM=CDK11B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:24:0:0:30,22:918,620:90.76,0.00:35.00,0.00:55.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:41.8,7.9:0,0:0,0:86,107:57,43:42,24:NM_033492.1(CDK11B) c.1459-64A>G,-:0.2,-:NOT_FOUND,- 1 1574019 rs9442412 A G 49 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.7831,G/0.2169;Gene=CDK11B/NM_001291345.1/0;CC=c.1216-67T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1285-67T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1246-67T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.484-67T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.1144-67T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.601-67T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:21:0:0:29,16:936,536:0.00,48.52:0.00,11.09:0.00,37.43:0.00,1.00:0.00,1.00:0.00,1.00:51,52:5.6,68.1:0,0:0,0:112,72:38,78:18,30:-,NM_033492.1(CDK11B) c.1246-67T>C:-,0.21:-,NOT_FOUND 1 1574076 rs9442413 G A 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.019;Gene=CDK11B/NM_001291345.1/0;CC=c.1216-124C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1285-124C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1246-124C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.484-124C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.1144-124C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.601-124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:0:0:0:12,14:398,446:37.73,0.00:0.00,0.00:37.73,0.00:1.00,0.00:0.00,0.00:1.00,0.00:52,51:79.1,5.6:0,0:0,0:112,103:38,47:20,36:NM_033492.1(CDK11B) c.1246-124C>T,-:0.21,-:NOT_FOUND,- 1 1575616 rs28394074 T C 183 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.1326,A/.,T/0.8674;Gene=CDK11B/NM_001291345.1/0;CC=c.1215+22A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1284+22A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1245+22A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.483+22A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.1143+22A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.600+22A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A,C:51:45:0:0:1,50:30,1595:1.79,182.89:0.89,140.08:0.89,42.81:0.00,1.00:0.00,1.00:0.00,1.00:43,43:30.0,34.9:0,0:0,0:0,40:133,109:0,27:NM_033492.1(CDK11B) c.1245+22A>G,NM_033492.1(CDK11B) c.1245+22A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 1575836 rs72468213 C G 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=2486;Gene=CDK11B/NM_001291345.1/0;CC=c.1040-23G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1109-23G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1070-23G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.308-23G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.968-23G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.425-23G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:83:42:0:0:71,12:2120,375:0.00,28.41:0.00,11.42:0.00,16.99:0.00,1.00:0.00,0.99:0.00,1.00:45,42:8.5,58.7:0,0:0,0:104,80:43,67:29,26:-,NM_033492.1(CDK11B) c.1070-23G>C:-,NOT_FOUND:-,NOT_FOUND 1 1576586 rs74866374 C G 14 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=166;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.974-112G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1043-112G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1004-112G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.242-112G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.902-112G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.359-112G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,C,G,T:70:40:0:0:1,62,6,1:10,2125,195,33:-0.24,0.00,13.55,1.55:0.02,0.00,15.25,0.85:-0.27,0.00,-1.70,0.70:0.00,0.00,0.80,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.97,0.00:27,60,40,49:76.0,24.7,61.0,80.0:0,0,0,0:0,0,0,0:95,106,109,58:20,43,41,93:0,24,27,0:-,NM_033492.1(CDK11B) c.1004-112G>C:-,NOT_FOUND:-,NOT_FOUND 1 1576622 rs3765907 C T 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.9032,T/0.09685;NP=276;Gene=CDK11B/NM_001291345.1/0;CC=c.974-148G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1043-148G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1004-148G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.242-148G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.902-148G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.359-148G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:22:0:0:23,26:720,801:0.00,77.80:0.00,22.21:0.00,55.58:0.00,1.00:0.00,1.00:0.00,1.00:60,49:32.3,50.8:0,0:0,0:116,118:33,32:25,27:-,NM_033492.1(CDK11B) c.1004-148G>A:-,NOT_FOUND:-,NOT_FOUND 1 1576636 rs3765908 G A 63 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.4527,G/0.5473;Gene=CDK11B/NM_001291345.1/0;CC=c.974-162C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.1043-162C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.1004-162C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.242-162C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.902-162C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.359-162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:11:0:0:21,19:651,594:63.09,0.00:12.81,0.00:50.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,43:38.9,54.6:0,0:0,0:123,123:28,27:18,21:NM_033492.1(CDK11B) c.1004-162C>T,-:0.55,-:NOT_FOUND,- 1 1577084 rs200429680 TTCCTCCTCC T 11 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=20;PC=0.968;Gene=CDK11B/NM_001291345.1/0;CC=c.903_911delGGAGGAGGA;ProtCh=p.E309_E311del;VC=InFrameDel;Gene=CDK11B/NM_001787.2/0;CC=c.972_980delGGAGGAGGA;ProtCh=p.E332_E334del;VC=InFrameDel;Gene=CDK11B/NM_033486.2/0;CC=c.933_941delGGAGGAGGA;ProtCh=p.E319_E321del;VC=InFrameDel;Gene=CDK11B/NM_033487.2/0;CC=c.171_179delGGAGGAGGA;ProtCh=p.E65_E67del;VC=InFrameDel;Gene=CDK11B/NM_033489.2/1;CC=c.831_839delGGAGGAGGA;ProtCh=p.E285_E287del;VC=InFrameDel;Gene=CDK11B/NM_033490.2/0;CC=c.288_296delGGAGGAGGA;ProtCh=p.E104_E106del;VC=InFrameDel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,TTCCTCCTCC,T:8:4:0:4:1,3,4:11,80,112:0.55,0.00,11.02:-0.06,0.00,8.13:0.60,0.00,2.89:0.00,0.00,0.87:0.00,0.00,0.51:0.00,0.00,0.51:27,40,40:68.0,38.7,49.2:0,0,0:0,0,0:96,71,39:55,80,111:0,16,20:-,NM_033492.1(CDK11B) c.927GGA[2] (p.Glu309[10]):-,0.17:-,NOT_FOUND 1 1577180 rs150540375 C T 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=16;PC=0.978;Gene=CDK11B/NM_001291345.1/0;CC=c.816G>A;ProtCh=p.A272=;VC=Silent;Gene=CDK11B/NM_001787.2/0;CC=c.885G>A;ProtCh=p.A295=;VC=Silent;Gene=CDK11B/NM_033486.2/0;CC=c.846G>A;ProtCh=p.A282=;VC=Silent;Gene=CDK11B/NM_033487.2/0;CC=c.84G>A;ProtCh=p.A28=;VC=Silent;Gene=CDK11B/NM_033489.2/1;CC=c.744G>A;ProtCh=p.A248=;VC=Silent;Gene=CDK11B/NM_033490.2/0;CC=c.201G>A;ProtCh=p.A67=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:12:12:0:0:6,6:185,190:0.00,18.25:0.00,18.25:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:27,27:15.3,53.8:0,0:0,0:60,84:91,67:33,31:-,NM_033492.1(CDK11B) c.=:-,NOT_FOUND:-,NOT_FOUND 1 1580282 . A G 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;Gene=CDK11B/NM_001291345.1/0;CC=c.596-2413T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-2413T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-2413T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-2920T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-2413T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-2413T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:A,G:31:31:0:0:24,7:675,218:0.00,17.97:0.00,17.97:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:53,39:22.2,45.4:0,0:0,0:57,44:93,105:34,11:-,NM_033492.1(CDK11B) c.625+205T>C:-,NOT_FOUND:-,NOT_FOUND 1 1580738 rs149767621 T A 289 nt VT=SNV;PN=T;NN=T;SST=Single;DP=198;DB;DBA=NA;PAF=NA;NP=2588;Gene=CDK11B/NM_001291345.1/0;CC=c.596-2869A>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-2869A>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-2869A>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-3376A>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-2869A>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-2869A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:198:52:0:0:100,1,97:3005,10,3130:288.61,-0.16,0.00:35.17,-0.04,0.00:253.44,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,27,43:41.3,22.0,6.5:0,0,0:0,0,0:118,118,125:25,33,25:22,0,14:NM_033492.1(CDK11B) c.463-89A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1585271 . TACACACAC T 7 nt VT=DEL;SST=Single;DP=7;NP=14;PC=0.020;Gene=CDK11B/NM_001291345.1/0;CC=c.596-7410_596-7403delGTGTGTGT;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-7410_626-7403delGTGTGTGT;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-7410_626-7403delGTGTGTGT;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-7917_-14-7910delGTGTGTGT;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-7410_524-7403delGTGTGTGT;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-7410_-20-7403delGTGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:TACACACAC,T:7:7:0:3:4,3:123,73:0.00,6.62:0.00,4.99:0.00,1.63:0.00,0.69:0.00,0.69:0.00,0.73:60,60:79.8,18.3:0,0:0,0:34,84:100,67:24,6:-,NM_033492.1(CDK11B) c.462+1540_462+1547delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 1585347 rs4648760 T C 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3784,T/0.6216;PC=0.176;Gene=CDK11B/NM_001291345.1/0;CC=c.596-7478A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-7478A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-7478A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-7985A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-7478A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-7478A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:6:4:0:0:4,2:144,47:14.66,0.00:5.38,0.00:9.28,0.00:0.93,0.00:0.99,0.00:0.99,0.00:60,60:86.2,25.0:0,0:0,0:67,116:83,35:15,30:NM_033492.1(CDK11B) c.462+1472A>G,-:0.61,-:NOT_FOUND,- 1 1585388 rs4648761 A G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3786,A/0.6214;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.596-7519T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-7519T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-7519T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-8026T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-7519T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-7519T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:6:1:0:0:2,4:69,133:0.00,13.55:0.00,1.80:0.00,11.75:0.00,0.93:0.00,0.78:0.00,0.93:60,60:5.5,86.2:0,0:0,0:83,108:66,42:43,15:-,NM_033492.1(CDK11B) c.462+1431T>C:-,0.63:-,NOT_FOUND 1 1586752 rs11486023 T C 356 nt VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.137,T/0.863;Gene=CDK11B/NM_001291345.1/0;CC=c.596-8883A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-8883A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-8883A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-9390A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-8883A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-8883A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:93:84:0:0:93:3118:356.00:262.63:93.38:1.00:1.00:1.00:60:40.8:0:0:43:103:29:NM_033492.1(CDK11B) c.462+67A>G,NM_033492.1(CDK11B) c.462+67A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 1586939 . c . . NT END=1588705;NT GT ./. 1 1587315 rs4648762 A G 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.09964,A/0.9004;PC=0.008;Gene=CDK11B/NM_001291345.1/0;CC=c.596-9446T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-9446T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-9446T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-9953T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-9446T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-9446T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,G:8:0:0:0:1,7:11,229:0.00,25.01:0.00,0.00:0.00,25.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:39.0,51.9:0,0:0,0:0,82:151,67:0,32:NM_033492.1(CDK11B) c.112-377T>C,NM_033492.1(CDK11B) c.112-377T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 1587340 rs70937166 A AAAAC 15 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=751;PC=0.041;Gene=CDK11B/NM_001291345.1/0;CC=c.596-9472_596-9471insGTTT;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-9472_626-9471insGTTT;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-9472_626-9471insGTTT;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-9979_-14-9978insGTTT;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-9472_524-9471insGTTT;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-9472_-20-9471insGTTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,AAAAC:7:0:5:0:2,5:41,140:0.00,14.57:0.00,0.00:0.00,14.57:0.00,0.98:0.00,0.00:0.00,0.98:60,60:76.0,43.0:0,0:0,0:82,92:69,59:57,17:-,NM_033492.1(CDK11B) c.112-403_112-402insGTTT:-,NOT_FOUND:-,NOT_FOUND 1 1588670 rs61774958 G A 59 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2809;PC=0.104;Gene=CDK11B/NM_001291345.1/0;CC=c.596-10801C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-10801C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-10801C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-11308C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-10801C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-10801C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:54:0:0:22,34:649,1063:59.08,0.00:58.31,0.00:0.76,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:120.5,9.4:0,0:0,0:55,68:95,80:22,30:NM_033492.1(CDK11B) c.111+155C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1588717 rs61774959 G A 70 lc VT=SNV;PN=T;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=1757;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.596-10848C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-10848C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-10848C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-11355C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-10848C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-10848C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:77:69:0:0:25,51,1:786,1597,8:69.61,0.00,-0.21:64.75,0.00,-0.14:4.86,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:117.6,6.5,53.0:0,0,0:0,0,0:80,55,88:71,89,63:23,38,0:NM_033492.1(CDK11B) c.111+108C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1588737 rs61776760 C T 65 lc VT=SNV;PN=A;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=610;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.596-10868G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-10868G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-10868G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-11375G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-10868G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-10868G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:75:63:0:0:50,2,23:1610,21,738:0.00,-0.08,65.01:0.00,0.12,57.82:0.00,-0.20,7.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,45,60:7.9,105.5,121.7:0,0,0:0,0,0:63,25,99:77,126,52:33,12,22:-,NM_033492.1(CDK11B) c.111+88G>A:-,NOT_FOUND:-,NOT_FOUND 1 1588743 rs61776761 A T 55 idl,lc VT=SNV;PN=G;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.596-10874T>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-10874T>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-10874T>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-11381T>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-10874T>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-10874T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:73:61:0:0:53,20:1664,638:0.00,54.74:0.00,47.34:0.00,7.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,123.5:0,20:0,0:64,97:82,53:30,17:-,NM_033492.1(CDK11B) c.111+82T>A:-,NOT_FOUND:-,NOT_FOUND 1 1588744 rs79724854 AGCG A 49 lc VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=151;PC=0.998;Gene=CDK11B/NM_001291345.1/0;CC=c.596-10878_596-10876delCGC;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-10878_626-10876delCGC;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-10878_626-10876delCGC;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-11385_-14-11383delCGC;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-10878_524-10876delCGC;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-10878_-20-10876delCGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGCG,A:72:58:0:20:52,20:1704,583:0.00,49.37:0.00,38.89:0.00,10.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,123.5:0,0:0,0:57,98:87,52:28,17:-,NM_033492.1(CDK11B) c.111+78_111+80delCGC:-,NOT_FOUND:-,NOT_FOUND 1 1588753 . C . . NT END=1588824;NT GT ./. 1 1588808 rs377230281 T TA 28 rn VT=INS;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.007;Gene=CDK11B/NM_001291345.1/0;CC=c.596-10940dupT;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-10940dupT;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-10940dupT;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-11447dupT;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-10940dupT;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-10940dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TA:79:48:13:0:1,65,13:33,2046,369:1.53,0.00,27.88:-0.20,0.00,3.41:1.73,0.00,24.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,54:33.0,12.5,47.2:0,0,0:0,0,0:146,74,71:5,76,73:0,38,55:-,NM_033492.1(CDK11B) c.111+16_111+17insT:-,NOT_FOUND:-,NOT_FOUND 1 1588936 . T . . NT END=1597185;NT GT ./. 1 1590526 rs9329573 G C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.596-12657C>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-12657C>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-12657C>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-13164C>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-12657C>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-12657C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:104:12.30:2.98:9.33:1.00:1.00:1.00:60:49.5:0:0:102:48:44:NM_033492.1(CDK11B) c.-111-u53C>G,NM_033492.1(CDK11B) c.-111-u53C>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 1591779 rs145892638 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=15;PC=0.003;Gene=CDK11B/NM_001291345.1/0;CC=c.596-13910G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-13910G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-13910G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-14417G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-13910G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-13910G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:12:0:0:0:7,5:173,156:0.00,14.49:0.00,0.00:0.00,14.49:0.00,0.92:0.00,0.00:0.00,0.92:42,39:57.0,64.8:0,0:0,0:108,96:42,55:12,28:-,NM_033492.1(CDK11B) c.-111-u1306G>A:-,NOT_FOUND:-,NOT_FOUND 1 1591789 rs148316460 A G 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=52;PC=0.007;Gene=CDK11B/NM_001291345.1/0;CC=c.596-13920T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-13920T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-13920T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-14427T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-13920T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-13920T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:355:40.74:0.00:40.74:1.00:0.00:1.00:42:62.6:0:0:114:36:19:NM_033492.1(CDK11B) c.-111-u1316T>C,NM_033492.1(CDK11B) c.-111-u1316T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1592881 rs4648774 A C 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3822,A/0.6178;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.596-15012T>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-15012T>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-15012T>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-15519T>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-15012T>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-15012T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:17:0:0:10,8:320,237:0.00,22.13:0.00,20.82:0.00,1.31:0.00,0.99:0.00,1.00:0.00,0.74:60,51:4.0,34.1:0,0:0,0:53,50:97,100:36,36:-,NM_033492.1(CDK11B) c.-111-u2408T>G:-,0.62:-,NOT_FOUND 1 1593023 rs1062088 G C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=86;Gene=CDK11B/NM_001291345.1/0;CC=c.596-15154C>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-15154C>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-15154C>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-15661C>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-15154C>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-15154C>G;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*4198C>G;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*4198C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,G:33:23:0:0:3,30:100,971:7.07,0.00:-0.75,0.00:7.81,0.00:0.41,0.00:0.78,0.00:0.74,0.00:40,51:57.0,3.3:0,0:0,0:126,63:25,85:2,25:NM_001110781.1(SLC35E2B) c.*4198C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1593857 rs10968 T C 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8684,C/0.1316;NP=12;Gene=CDK11B/NM_001291345.1/0;CC=c.596-15988A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-15988A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-15988A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-16495A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-15988A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-15988A>G;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*3364A>G;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*3364A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:7:0:0:8:179:21.62:17.95:3.68:1.00:1.00:1.00:40:35.4:0:0:140:10:9:NM_001110781.1(SLC35E2B) c.*3364A>G,NM_001110781.1(SLC35E2B) c.*3364A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1594199 rs72502752 C CT 78 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=7;Gene=CDK11B/NM_001291345.1/0;CC=c.596-16331dupA;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-16331dupA;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-16331dupA;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-16838dupA;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-16331dupA;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-16331dupA;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*3021dupA;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*3021dupA;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C,CT:23:15:22:0:1,22:32,689:0.00,77.59:0.00,45.37:0.00,32.23:0.00,1.00:0.00,1.00:0.00,1.00:50,60:29.0,15.5:0,0:0,0:146,64:4,86:0,32:NM_001110781.1(SLC35E2B) c.*3021dupA,NM_001110781.1(SLC35E2B) c.*3021dupA:0.71,0.71:NOT_FOUND,NOT_FOUND 1 1594315 rs1061892 C T 119 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.2919,A/.,C/0.7081;Gene=CDK11B/NM_001291345.1/0;CC=c.596-16446G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-16446G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-16446G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-16953G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-16446G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-16446G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*2906G>A;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*2906G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C,T:35:17:0:0:2,33:64,1066:0.00,118.95:0.00,43.47:0.00,75.48:0.00,1.00:0.00,1.00:0.00,1.00:40,60:102.5,45.3:0,0:0,0:3,73:148,74:2,29:NM_001110781.1(SLC35E2B) c.*2906G>A,NM_001110781.1(SLC35E2B) c.*2906G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 1594367 rs74047817 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9868,T/0.01318;NP=11;Gene=CDK11B/NM_001291345.1/0;CC=c.596-16498G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-16498G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-16498G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-17005G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-16498G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-16498G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*2854G>A;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*2854G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:37:26:0:0:32,5:1014,157:0.00,11.74:0.00,12.59:0.00,-0.85:0.00,0.77:0.00,0.93:0.00,0.83:60,43:41.3,78.8:0,0:0,0:73,27:77,124:47,19:-,NM_001110781.1(SLC35E2B) c.*2854G>A:-,NOT_FOUND:-,NOT_FOUND 1 1594393 rs141732428 T A 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.596-16524A>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-16524A>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-16524A>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-17031A>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-16524A>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-16524A>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*2828A>T;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*2828A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:42:30:0:0:10,32:321,987:26.87,0.00:18.10,0.00:8.76,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:54.1,37.1:0,0:0,0:16,68:120,82:16,44:NM_001110781.1(SLC35E2B) c.*2828A>T,-:0.08,-:NOT_FOUND,- 1 1594498 rs7416520 C T 168 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=5;Gene=CDK11B/NM_001291345.1/0;CC=c.596-16629G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-16629G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-16629G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-17136G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-16629G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-16629G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*2723G>A;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*2723G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:86:73:0:0:35,51:1069,1686:0.00,167.68:0.00,126.44:0.00,41.24:0.00,1.00:0.00,1.00:0.00,1.00:60,59:11.9,39.1:0,0:0,0:53,70:98,81:31,34:-,NM_001110781.1(SLC35E2B) c.*2723G>A:-,NOT_FOUND:-,NOT_FOUND 1 1594640 . T C 30 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;Gene=CDK11B/NM_001291345.1/0;CC=c.596-16771A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-16771A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-16771A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-17278A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-16771A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-16771A>G;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*2581A>G;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*2581A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:23:0:0:12,48:377,1455:30.41,0.00:1.48,0.00:28.93,0.00:1.00,0.00:0.98,0.00:1.00,0.00:40,56:68.8,9.1:0,0:0,0:88,92:63,58:44,33:NM_001110781.1(SLC35E2B) c.*2581A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1594642 . C A 24 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;PC=0.004;Gene=CDK11B/NM_001291345.1/0;CC=c.596-16773G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-16773G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-16773G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-17280G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-16773G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-16773G>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*2579G>T;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*2579G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:22:0:0:12,49:310,1514:23.64,0.00:1.30,0.00:22.34,0.00:1.00,0.00:0.97,0.00:1.00,0.00:40,56:68.8,8.3:0,0:0,0:90,90:61,61:44,37:NM_001110781.1(SLC35E2B) c.*2579G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1595198 rs4307513 A G 141 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.1374,A/0.8626;PC=0.002;Gene=CDK11B/NM_001291345.1/0;CC=c.596-17329T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-17329T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-17329T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-17836T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-17329T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-17329T>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*2023T>C;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*2023T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:43:36:0:0:43:1207:140.75:108.87:31.88:1.00:1.00:1.00:60:43.8:0:0:38:108:29:NM_001110781.1(SLC35E2B) c.*2023T>C,NM_001110781.1(SLC35E2B) c.*2023T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 1595388 rs560425256 A G 11 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.9988,T/0.001198;NP=11;NP=2;PC=0.005;Gene=CDK11B/NM_001291345.1/0;CC=c.596-17519T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-17519T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-17519T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-18026T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-17519T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-17519T>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*1833T>C;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*1833T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:30:7:0:0:25,5:798,145:0.00,11.02:0.00,12.88:0.00,-1.86:0.00,0.80:0.00,0.68:0.00,0.96:50,21:38.8,63.6:0,0:0,0:105,105:46,46:20,27:-,NM_001110781.1(SLC35E2B) c.*1833T>C:-,NOT_FOUND:-,NOT_FOUND 1 1595400 rs4313339 A G 101 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.1364,A/0.8636;PC=0.004;Gene=CDK11B/NM_001291345.1/0;CC=c.596-17531T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-17531T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-17531T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-18038T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-17531T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-17531T>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*1821T>C;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*1821T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:7:0:0:28:876:100.94:23.90:77.05:1.00:1.00:1.00:59:44.5:0:0:115:36:21:NM_001110781.1(SLC35E2B) c.*1821T>C,NM_001110781.1(SLC35E2B) c.*1821T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 1595538 rs6700227 T C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=343;Gene=CDK11B/NM_001291345.1/0;CC=c.596-17669A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-17669A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-17669A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-18176A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-17669A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-17669A>G;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*1683A>G;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*1683A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:13:0:0:9,15:263,465:23.69,0.00:13.46,0.00:10.23,0.00:1.00,0.00:0.99,0.00:0.99,0.00:49,59:48.8,11.1:0,0:0,0:85,92:66,59:47,46:NM_001110781.1(SLC35E2B) c.*1683A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1595867 rs4443835 C A 239 nt VT=SNV;PN=G;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.137,C/0.863;Gene=CDK11B/NM_001291345.1/0;CC=c.596-17998G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-17998G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-17998G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-18505G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-17998G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-17998G>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*1354G>T;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*1354G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:65:44:0:0:65:2080:238.81:128.74:110.08:1.00:1.00:1.00:60:42.7:0:0:62:89:33:NM_001110781.1(SLC35E2B) c.*1354G>T,NM_001110781.1(SLC35E2B) c.*1354G>T:0.83,0.83:NOT_FOUND,NOT_FOUND 1 1596196 rs1109644 C T 65 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3786,C/0.6214;NP=567;Gene=CDK11B/NM_001291345.1/0;CC=c.596-18327G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-18327G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-18327G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-18834G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-18327G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-18327G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*1025G>A;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*1025G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:15:0:0:10,21:263,631:0.00,64.72:0.00,16.51:0.00,48.22:0.00,1.00:0.00,1.00:0.00,1.00:40,40:9.4,41.2:0,0:0,0:64,104:86,47:22,40:-,NM_001110781.1(SLC35E2B) c.*1025G>A:-,NOT_FOUND:-,NOT_FOUND 1 1596304 rs1109645 G A 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.3772,G/0.6228;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.596-18435C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-18435C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-18435C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-18942C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-18435C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-18435C>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*917C>T;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*917C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:27:0:0:20,12:670,332:67.42,0.00:50.26,0.00:17.16,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,40:44.8,9.8:0,0:0,0:75,86:75,63:30,27:NM_001110781.1(SLC35E2B) c.*917C>T,-:0.63,-:NOT_FOUND,- 1 1596500 rs72634819 C T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8838,T/0.1162;Gene=CDK11B/NM_001291345.1/0;CC=c.596-18631G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-18631G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-18631G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-19138G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-18631G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-18631G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*721G>A;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*721G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:23:2:0:0:10,1,12:258,12,331:0.00,0.27,32.22:0.00,0.46,1.27:0.00,-0.19,30.95:0.00,0.00,1.00:0.00,0.00,0.81:0.00,0.00,1.00:60,60,60:9.9,45.0,41.5:0,0,0:0,0,0:144,124,66:6,27,84:6,0,21:-,NM_001110781.1(SLC35E2B) c.*721G>A:-,0.14:-,NOT_FOUND 1 1596974 rs4074020 C T 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1258,C/0.8742;Gene=CDK11B/NM_001291345.1/0;CC=c.596-19105G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-19105G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-19105G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-19612G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-19105G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-19105G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*247G>A;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*247G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:13:0:0:13:378:43.94:43.94:0.00:1.00:1.00:0.00:60:69.2:0:0:58:93:28:NM_001110781.1(SLC35E2B) c.*247G>A,NM_001110781.1(SLC35E2B) c.*247G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 1597020 rs72634820 C G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8762,G/0.1238;Gene=CDK11B/NM_001291345.1/0;CC=c.596-19151G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-19151G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-19151G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-19658G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-19151G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-19151G>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.*201G>C;VC=3UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.*201G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:20:0:0:12,8:375,268:0.00,24.78:0.00,24.78:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:42.3,61.9:0,0:0,0:51,56:99,93:27,29:-,NM_001110781.1(SLC35E2B) c.*201G>C:-,0.15:-,NOT_FOUND 1 1597459 . C . . NT END=1599765;NT GT ./. 1 1599547 rs12725286 C T 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3974,T/0.6026;PC=0.010;Gene=CDK11B/NM_001291345.1/0;CC=c.596-21678G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-21678G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-21678G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22185G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-21678G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-21678G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.980+219G>A;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.980+219G>A;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:11:11:0:0:4,7:131,235:0.00,23.71:0.00,23.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:50,51:0.0,58.4:0,0:0,0:76,79:74,72:11,21:-,NM_001110781.1(SLC35E2B) c.980+219G>A:-,0.6:-,NOT_FOUND 1 1599812 rs12729295 C T 59 lc VT=SNV;PN=A;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.998;Gene=CDK11B/NM_001291345.1/0;CC=c.596-21943G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-21943G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-21943G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22450G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-21943G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-21943G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.934G>A;ProtCh=p.V312I;VC=Missense;Gene=SLC35E2B/NM_001290264.1/0;CC=c.934G>A;ProtCh=p.V312I;VC=Missense;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:121:94:0:0:95,26:3120,737:0.00,58.81:0.00,36.74:0.00,22.07:0.00,1.00:0.00,1.00:0.00,1.00:43,40:7.4,56.6:0,0:0,0:68,59:83,90:34,42:-,NM_001110781.1(SLC35E2B) c.934G>A (p.Val312Ile):-,0.55:-,NOT_FOUND 1 1599888 rs2072923 A G 231 lc VT=SNV;PN=C;NN=C;SST=Single;DP=145;DB;DBA=NA;PAF=NA;PC=0.049;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22019T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22019T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22019T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22526T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22019T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22019T>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.858T>C;ProtCh=p.S286=;VC=Silent;Gene=SLC35E2B/NM_001290264.1/0;CC=c.858T>C;ProtCh=p.S286=;VC=Silent;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:145:85:0:0:67,77,1:2103,2377,11:0.00,230.93,-0.11:0.00,109.45,0.03:0.00,121.48,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:45,60,40:14.7,55.6,66.0:0,0,0:0,0,0:111,47,96:37,100,53:15,25,0:-,NM_001110781.1(SLC35E2B) c.858T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 1599912 . C . . NT END=1601102;NT GT ./. 1 1599940 rs61776767 C T 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=1642;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22071G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22071G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22071G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22578G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22071G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22071G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.835-29G>A;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.835-29G>A;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:108:46:0:0:1,84,23:10,2625,775:-0.24,0.00,64.31:-0.12,0.00,6.39:-0.12,0.00,57.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,43:132.0,53.2,57.2:0,0,0:0,0,0:10,86,109:141,60,42:0,26,28:-,NM_001110781.1(SLC35E2B) c.835-29G>A:-,NOT_FOUND:-,NOT_FOUND 1 1599974 rs113499489 A C 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=1160;PC=0.002;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22105T>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22105T>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22105T>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22612T>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22105T>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22105T>G;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.835-63T>G;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.835-63T>G;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:96:33:0:0:79,15,2:2459,516,27:0.00,40.85,0.02:0.00,7.99,-0.18:0.00,32.86,0.20:0.00,1.00,0.00:0.00,0.98,0.00:0.00,1.00,0.00:60,43,60:47.2,78.5,103.5:0,0,0:0,0,0:98,118,30:50,33,120:28,20,21:-,NM_001110781.1(SLC35E2B) c.835-63T>G:-,NOT_FOUND:-,NOT_FOUND 1 1599981 rs72634822 C T 120 nt VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.8886,T/0.1114;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22112G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22112G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22112G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22619G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22112G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22112G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.835-70G>A;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.835-70G>A;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:93:33:0:0:53,40:1581,1288:0.00,120.29:0.00,34.83:0.00,85.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.1,59.8:0,0:0,0:101,105:50,43:36,23:-,NM_001110781.1(SLC35E2B) c.835-70G>A:-,0.14:-,NOT_FOUND 1 1600051 . C G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;NP=144;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22182G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22182G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22182G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22689G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22182G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22182G>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.835-140G>C;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.835-140G>C;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,C,G:45:3:0:0:1,40,4:29,1109,130:1.34,0.00,9.09:-0.01,0.00,-0.06:1.36,0.00,9.15:0.00,0.00,0.57:0.00,0.00,0.31:0.00,0.00,0.57:60,60,39:223.0,30.8,94.5:0,0,0:0,0,0:10,109,84:141,41,64:0,25,10:-,NM_001110781.1(SLC35E2B) c.835-140G>C:-,NOT_FOUND:-,NOT_FOUND 1 1600061 . G A 7 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;NP=152;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22192C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22192C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22192C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22699C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22192C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22192C>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.835-150C>T;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.835-150C>T;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,G:40:1:0:0:3,37:100,1118:6.81,0.00:-0.02,0.00:6.83,0.00:0.37,0.00:0.38,0.00:0.37,0.00:3,60:88.3,37.1:0,0:0,0:91,108:55,43:7,29:NM_001110781.1(SLC35E2B) c.835-150C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1600156 rs147261530 C G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8876,G/0.1124;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22287G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22287G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22287G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22794G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22287G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22287G>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.835-245G>C;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.835-245G>C;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:0:0:0:8,8:271,234:0.00,22.37:0.00,0.00:0.00,22.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.9,97.2:0,0:0,0:112,102:38,48:12,16:-,NM_001110781.1(SLC35E2B) c.835-245G>C:-,0.14:-,NOT_FOUND 1 1600160 rs72634824 C T 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7548,T/0.2452;PC=0.004;Gene=CDK11B/NM_001291345.1/0;CC=c.596-22291G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-22291G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-22291G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-22798G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-22291G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-22291G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.835-249G>A;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.835-249G>A;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:8,8:253,246:0.00,23.61:0.00,0.00:0.00,23.61:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.9,97.2:0,0:0,0:116,106:34,44:12,16:-,NM_001110781.1(SLC35E2B) c.835-249G>A:-,0.25:-,NOT_FOUND 1 1601015 rs72634825 G A 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8858,A/0.1142;Gene=CDK11B/NM_001291345.1/0;CC=c.596-23146C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-23146C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-23146C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-23653C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-23146C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-23146C>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.834+88C>T;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.834+88C>T;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:39:0:0:22,18:716,509:70.23,0.00:63.47,0.00:6.76,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:71.6,13.8:0,0:0,0:43,74:101,77:25,35:NM_001110781.1(SLC35E2B) c.834+88C>T,-:0.14,-:NOT_FOUND,- 1 1601052 rs72634826 G A 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.8854,A/0.1146;Gene=CDK11B/NM_001291345.1/0;CC=c.596-23183C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-23183C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-23183C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-23690C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-23183C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-23183C>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.834+51C>T;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.834+51C>T;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:57:54:0:0:34,1,22:1103,12,648:110.27,0.08,0.00:82.23,0.11,0.00:28.04,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:58.9,70.0,6.5:0,0,0:0,0,0:47,108,44:103,43,102:38,0,27:NM_001110781.1(SLC35E2B) c.834+51C>T,-:0.14,-:0.197766,- 1 1601176 . C . . NT END=1601536;NT GT ./. 1 1601591 . C . . NT END=1602947;NT GT ./. 1 1602787 rs4639697 G T 71 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.001398,T/0.9986;NP=814;Gene=CDK11B/NM_001291345.1/0;CC=c.596-24918C>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-24918C>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-24918C>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-25425C>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-24918C>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-24918C>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.707+161C>A;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.707+161C>A;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:21:0:0:21:607:70.54:70.54:0.00:1.00:1.00:0.00:60:49.1:0:0:64:87:45:NM_001110781.1(SLC35E2B) c.707+161C>A,NM_001110781.1(SLC35E2B) c.707+161C>A:1,1:NOT_FOUND,NOT_FOUND 1 1603069 . C . . NT END=1606901;NT GT ./. 1 1603236 rs11523819 G A 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7684,A/0.2316;Gene=CDK11B/NM_001291345.1/0;CC=c.596-25367C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-25367C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-25367C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-25874C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-25367C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-25367C>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.587-168C>T;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.587-168C>T;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:0:0:0:12,14:369,471:34.83,0.00:0.00,0.00:34.83,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.1,8.6:0,0:0,0:110,120:40,30:37,8:NM_001110781.1(SLC35E2B) c.587-168C>T,-:0.28,-:NOT_FOUND,- 1 1606072 rs372723226 C CA 9 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=64;PC=0.002;Gene=CDK11B/NM_001291345.1/0;CC=c.596-28204_596-28203insT;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-28204_626-28203insT;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-28204_626-28203insT;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-28711_-14-28710insT;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-28204_524-28203insT;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-28204_-20-28203insT;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.586+829_586+830insT;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.586+829_586+830insT;VC=Intron;DM=SLC35E2B/TPT;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,CA:8:9:4:0:5,3:168,130:0.00,8.92:0.00,8.92:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:43,43:18.4,39.0:0,1:0,0:25,22:126,129:17,11:-,NM_001110781.1(SLC35E2B) c.586+829_586+830insT:-,NOT_FOUND:-,NOT_FOUND 1 1606159 rs70937170 TGC T 33 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=TGC/0.7392,T/0.2608;NP=396;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.596-28292_596-28291delGC;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-28292_626-28291delGC;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-28292_626-28291delGC;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-28799_-14-28798delGC;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-28292_524-28291delGC;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-28292_-20-28291delGC;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.586+741_586+742delGC;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.586+741_586+742delGC;VC=Intron;DM=SLC35E2B/TPT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGC,T:22:20:0:11:11,11:325,341:0.00,32.74:0.00,22.27:0.00,10.46:0.00,1.00:0.00,1.00:0.00,0.87:43,51:16.8,6.9:0,0:0,0:55,55:96,96:37,25:-,NM_001110781.1(SLC35E2B) c.586+741_586+742delGC:-,0.3:-,NOT_FOUND 1 1606287 rs28678861 G C 179 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.1134,C/0.8866,T/.;Gene=CDK11B/NM_001291345.1/0;CC=c.596-28418C>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-28418C>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-28418C>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-28925C>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-28418C>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-28418C>G;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.586+615C>G;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.586+615C>G;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C:49:36:0:0:49:1557:179.01:98.39:80.63:1.00:1.00:1.00:57:48.2:0:0:64:87:26:NM_001110781.1(SLC35E2B) c.586+615C>G,NM_001110781.1(SLC35E2B) c.586+615C>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 1606307 rs61776786 G A 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.7406,A/0.2594;Gene=CDK11B/NM_001291345.1/0;CC=c.596-28438C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-28438C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-28438C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-28945C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-28438C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-28438C>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.586+595C>T;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.586+595C>T;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:33:0:0:18,31:521,948:46.74,0.00:17.68,0.00:29.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,57:59.3,37.6:0,0:0,0:80,60:71,91:39,33:NM_001110781.1(SLC35E2B) c.586+595C>T,-:0.3,-:NOT_FOUND,- 1 1606530 rs374946663 A G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8878,G/0.1122;NP=140;PC=0.002;Gene=CDK11B/NM_001291345.1/0;CC=c.596-28661T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-28661T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-28661T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-29168T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-28661T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-28661T>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.586+372T>C;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.586+372T>C;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:A,G:14:2:0:0:6,8:179,238:0.00,23.46:0.00,3.07:0.00,20.40:0.00,1.00:0.00,0.85:0.00,1.00:51,49:45.5,46.6:0,0:0,0:107,117:41,34:32,13:-,NM_001110781.1(SLC35E2B) c.586+372T>C:-,NOT_FOUND:-,NOT_FOUND 1 1606571 rs61776787 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5745,G/0.4255;Gene=CDK11B/NM_001291345.1/0;CC=c.596-28702T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-28702T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-28702T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-29209T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-28702T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-28702T>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.586+331T>C;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.586+331T>C;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:2:0:0:6:205:23.36:7.35:16.01:1.00:1.00:1.00:50:62.3:0:0:88:63:41:NM_001110781.1(SLC35E2B) c.586+331T>C,NM_001110781.1(SLC35E2B) c.586+331T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 1 1606667 rs552474799 C CG 35 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.596-28799_596-28798insC;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-28799_626-28798insC;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-28799_626-28798insC;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-29306_-14-29305insC;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-28799_524-28798insC;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-28799_-20-28798insC;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.586+234_586+235insC;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.586+234_586+235insC;VC=Intron;DM=SLC35E2B/TPT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:CG:13:10:13:0:13:296:35.34:28.83:6.51:1.00:1.00:1.00:49:21.8:0:0:75:76:52:NM_001110781.1(SLC35E2B) c.586+234_586+235insC,NM_001110781.1(SLC35E2B) c.586+234_586+235insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1607030 . C . . NT END=1607502;NT GT ./. 1 1607639 . C . . NT END=1607816;NT GT ./. 1 1607686 rs61776788 A G 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.596-29817T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-29817T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-29817T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-30324T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-29817T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-29817T>C;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.323-48T>C;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.323-48T>C;VC=Intron;DM=SLC35E2B/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:11:0:0:17:527:60.80:32.78:28.03:1.00:1.00:1.00:41:38.5:0:0:102:49:38:NM_001110781.1(SLC35E2B) c.323-48T>C,NM_001110781.1(SLC35E2B) c.323-48T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1608229 rs61776790 C T 250 lc VT=SNV;PN=C;NN=G;SST=Single;DP=189;DB;DBA=NA;PAF=C/0.7354,T/0.2646;Gene=CDK11B/NM_001291345.1/0;CC=c.596-30360G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-30360G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-30360G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-30867G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-30360G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-30360G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.-91G>A;VC=5UTR;Gene=SLC35E2B/NM_001290264.1/0;CC=c.-91G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:189:104:0:0:108,81:3272,2674:0.00,250.05:0.00,91.35:0.00,158.70:0.00,1.00:0.00,1.00:0.00,1.00:47,45:10.5,42.5:0,0:0,0:65,62:79,82:27,31:-,NM_001110781.1(SLC35E2B) c.-91G>A:-,NOT_FOUND:-,NOT_FOUND 1 1608286 . C . . NT END=1623887;NT GT ./. 1 1608394 rs146877222 C T 112 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=104;Gene=CDK11B/NM_001291345.1/0;CC=c.596-30525G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.626-30525G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.626-30525G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-14-31032G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.524-30525G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-20-30525G>A;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.-147-109G>A;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.-147-109G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A,T:31:0:0:0:1,30:11,977:0.32,111.53:0.00,0.00:0.32,111.53:0.00,1.00:0.00,0.00:0.00,1.00:27,42:23.0,38.9:0,0:0,0:98,95:53,52:0,28:NM_001110781.1(SLC35E2B) c.-147-109G>A,NM_001110781.1(SLC35E2B) c.-147-109G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1623590 rs1997727 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=8;PC=0.379;Gene=CDK11B/NM_001291345.1/0;CC=c.595+20113A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+20113A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+20113A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+24195A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+20113A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+24195A>G;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.-148+298A>G;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.-566+298A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:10:10:0:0:3,7:99,215:8.68,0.00:8.68,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:40,40:113.0,44.9:0,0:0,0:27,62:121,89:19,16:NM_001110781.1(SLC35E2B) c.-148+298A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1623725 rs151167524 C A 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=63;PC=0.003;Gene=CDK11B/NM_001291345.1/0;CC=c.595+19978G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+19978G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+19978G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+24060G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+19978G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+24060G>T;VC=Intron;Gene=SLC35E2B/NM_001110781.2/1;CC=c.-148+163G>T;VC=Intron;Gene=SLC35E2B/NM_001290264.1/0;CC=c.-566+163G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:68:68:0:0:19,49:558,1595:47.37,0.00:47.44,0.00:-0.07,0.00:1.00,0.00:1.00,0.00:0.52,0.00:42,43:56.9,11.8:0,0:0,0:63,37:86,114:34,22:NM_001110781.1(SLC35E2B) c.-148+163G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1624132 . C . . NT END=1634345;NT GT ./. 1 1624396 rs368915 T G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2999,G/0.7001;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.595+19307A>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+19307A>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+19307A>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+23389A>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+19307A>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+23389A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:326:37.37:0.00:37.37:1.00:0.00:1.00:58:78.9:0:0:96:49:24:NM_001110781.1(SLC35E2B) c.-503-u153A>C,NM_001110781.1(SLC35E2B) c.-503-u153A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1633003 rs372203947 C CCG 149 idl,nt VT=INS;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=1;NP=117;NP=2;Gene=CDK11B/NM_001291345.1/0;CC=c.595+10699_595+10700insCG;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+10699_625+10700insCG;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+10699_625+10700insCG;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+14781_-15+14782insCG;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+10699_523+10700insCG;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+14781_-21+14782insCG;VC=Intron;Gene=MMP23A/NR_002946.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,CCG:117:106:117:0:1,15,3,98:12,504,96,1603:0.07,0.00,5.93,149.43:0.08,0.00,1.00,110.02:-0.01,0.00,4.93,39.42:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:27,48,9,39:87.0,8.1,143.7,26.5:0,2,2,20:0,0,0,0:143,124,84,60:8,10,45,85:0,18,22,31:-,NR_002946.1(MMP23A) n.706-44_706-43insCG:-,NOT_FOUND:-,NOT_FOUND 1 1634439 . C . . NT END=1634518;NT GT ./. 1 1634709 . C . . NT END=1634914;NT GT ./. 1 1635004 rs874516 T C 165 lc VT=SNV;PN=T;NN=T;SST=Single;DP=171;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.595+8699A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+8699A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+8699A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+12781A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+8699A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+12781A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1980A>G;ProtCh=p.K660=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.1968A>G;ProtCh=p.K656=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.1971A>G;ProtCh=p.K657=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.1941A>G;ProtCh=p.K647=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:171:117:0:0:55,116:1856,3724:165.23,0.00:89.84,0.00:75.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:38.8,21.0:0,0:0,0:70,81:70,67:30,42:NM_024011.2(CDK11A) c.1971A>G (p.(=)),-:0.54,-:0.624052,- 1 1635049 rs1136979 G A 96 lc VT=SNV;PN=T;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=NA;NP=2;PC=0.833;Gene=CDK11B/NM_001291345.1/0;CC=c.595+8654C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+8654C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+8654C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+12736C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+8654C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+12736C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1935C>T;ProtCh=p.P645=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.1923C>T;ProtCh=p.P641=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.1926C>T;ProtCh=p.P642=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.1896C>T;ProtCh=p.P632=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:158:90:0:0:35,1,121,1:1158,6,3898,10:96.46,-0.30,0.00,-0.25:22.12,-0.15,0.00,-0.15:74.34,-0.15,0.00,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:54,50,60,27:67.4,39.0,16.9,129.0:0,0,0,0:0,0,0,0:84,126,73,83:48,25,71,68:24,0,38,0:NM_024011.2(CDK11A) c.1926C>T (p.(=)),-:NOT_FOUND,-:0.000169,- 1 1635061 rs1136980 C A 83 lc VT=SNV;PN=G;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.998,A/0.001997,T/.;PC=0.998;Gene=CDK11B/NM_001291345.1/0;CC=c.595+8642G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+8642G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+8642G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+12724G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+8642G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+12724G>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1923G>T;ProtCh=p.E641D;VC=Missense;Gene=CDK11A/NM_001313982/0;CC=c.1911G>T;ProtCh=p.E637D;VC=Missense;Gene=CDK11A/NM_024011.2/0;CC=c.1914G>T;ProtCh=p.E638D;VC=Missense;Gene=CDK11A/NM_033529.2/1;CC=c.1884G>T;ProtCh=p.E628D;VC=Missense;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:148:84:0:0:32,116:1010,3943:82.74,0.00:20.20,0.00:62.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:71.4,15.4:0,0:0,0:87,76:50,69:18,33:NM_024011.2(CDK11A) c.1914G>T (p.Glu638Asp),-:0.0018,-:NOT_FOUND,- 1 1635064 . C . . NT END=1635262;NT GT ./. 1 1635435 . C . . NT END=1635477;NT GT ./. 1 1635586 . C . . NT END=1635661;NT GT ./. 1 1635619 rs2076329 T C 216 nt VT=SNV;PN=C;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=T/0.353,C/0.647;Gene=CDK11B/NM_001291345.1/0;CC=c.595+8084A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+8084A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+8084A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+12166A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+8084A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+12166A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1696-34A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.1684-34A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.1687-34A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.1657-34A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:146:94:0:0:76,1,69:2232,20,2219:215.66,0.28,0.00:103.08,-0.10,0.00:112.59,0.38,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.5,189.0,9.8:0,0,0:0,0,0:78,109,68:71,30,74:40,0,29:NM_024011.2(CDK11A) c.1687-34A>G,-:0.62,-:0.687965,- 1 1635749 rs55880629 C A 185 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=138;DB;DBA=NA;PAF=C/0.6024,A/0.3976;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.595+7954G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+7954G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+7954G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+12036G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+7954G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+12036G>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1608G>T;ProtCh=p.R536=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.1596G>T;ProtCh=p.R532=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.1599G>T;ProtCh=p.R533=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.1569G>T;ProtCh=p.R523=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:138:79:0:0:65,73:1955,2285:184.91,0.00:86.67,0.00:98.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.0,11.4:0,0:0,0:75,84:75,66:43,46:NM_024011.2(CDK11A) c.1599G>T (p.(=)),-:0.34,-:0.471463,- 1 1635784 . C . . NT END=1635988;NT GT ./. 1 1636044 rs1059822 G A 144 lc VT=SNV;PN=C;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.352,A/0.648;PC=0.025;Gene=CDK11B/NM_001291345.1/0;CC=c.595+7659C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+7659C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+7659C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+11741C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+7659C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+11741C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1518C>T;ProtCh=p.Y506=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.1506C>T;ProtCh=p.Y502=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.1509C>T;ProtCh=p.Y503=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.1479C>T;ProtCh=p.Y493=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:112:77:0:0:48,1,63:1540,11,1878:144.03,-0.13,0.00:87.28,-0.12,0.00:56.75,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:53,40,60:41.4,217.0,11.3:0,0,0:0,0,0:83,37,51:68,113,91:34,0,32:NM_024011.2(CDK11A) c.1509C>T (p.(=)),-:0.5,-:0.663348,- 1 1636095 . C . . NT END=1636342;NT GT ./. 1 1636274 rs2179381 C T 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.7033,T/0.2967;Gene=CDK11B/NM_001291345.1/0;CC=c.595+7429G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+7429G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+7429G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+11511G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+7429G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+11511G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1467+69G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.1455+69G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.1458+69G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.1428+69G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:46:0:0:38,27:1230,860:0.00,79.69:0.00,39.02:0.00,40.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,41.5:0,0:0,0:46,48:96,102:26,30:-,NM_024011.2(CDK11A) c.1458+69G>A:-,0.33:-,NOT_FOUND 1 1636465 . C . . NT END=1637080;NT GT ./. 1 1637172 . C . . NT END=1638847;NT GT ./. 1 1639024 . C . . NT END=1639618;NT GT ./. 1 1639046 rs138369165 C G 17 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.4205,A/.,G/0.5795;Gene=CDK11B/NM_001291345.1/0;CC=c.595+4657G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+4657G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+4657G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+8739G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+4657G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+8739G>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1079-23G>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.1067-23G>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.1070-23G>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.1040-23G>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,C,G:40:16:0:0:1,32,7:13,1001,221:0.03,0.00,17.48:-0.12,0.00,-0.92:0.15,0.00,18.40:0.00,0.00,0.94:0.00,0.00,0.91:0.00,0.00,0.99:42,44,40:54.0,10.7,71.9:0,0,0:0,0,0:20,94,136:129,47,15:0,26,11:-,NM_024011.2(CDK11A) c.1070-23G>C:-,NOT_FOUND:-,NOT_FOUND 1 1639062 rs149613000 T C 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=241;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.595+4641A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+4641A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+4641A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+8723A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+4641A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+8723A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1079-39A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.1067-39A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.1070-39A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.1040-39A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:C,T:34:13:0:0:4,30:112,902:7.82,0.00:-0.46,0.00:8.28,0.00:0.62,0.00:0.72,0.00:0.93,0.00:27,44:91.0,11.1:0,0:0,0:64,95:86,38:14,28:NM_024011.2(CDK11A) c.1070-39A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1639685 . C . . NT END=1640232;NT GT ./. 1 1639801 rs74378830 T C 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.4263,C/0.5737;Gene=CDK11B/NM_001291345.1/0;CC=c.595+3902A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+3902A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+3902A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+7984A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+3902A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+7984A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1013-117A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.1001-117A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.1004-117A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.974-117A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:36:0:0:37,30:1138,984:111.35,0.00:49.76,0.00:61.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,56:41.4,12.0:0,0:0,0:114,105:36,36:21,21:NM_024011.2(CDK11A) c.1004-117A>G,-:0.47,-:NOT_FOUND,- 1 1639913 rs144779393 C A 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6837,A/0.3163;Gene=CDK11B/NM_001291345.1/0;CC=c.595+3790G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+3790G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+3790G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+7872G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+3790G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+7872G>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1013-229G>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.1001-229G>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.1004-229G>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.974-229G>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:3:0:0:6,11:208,319:18.87,0.00:4.95,0.00:13.92,0.00:0.95,0.00:0.75,0.00:1.00,0.00:57,60:73.7,18.9:1,0:0,0:58,86:93,65:17,38:NM_024011.2(CDK11A) c.1004-229G>T,-:0.32,-:NOT_FOUND,- 1 1639960 rs140002785 C G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6164,G/0.3836;Gene=CDK11B/NM_001291345.1/0;CC=c.595+3743G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+3743G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+3743G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+7825G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+3743G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+7825G>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.1012+273G>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.1000+273G>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.1003+273G>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.973+273G>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,G:12:3:0:0:7,5:179,164:0.00,15.26:0.00,5.96:0.00,9.30:0.00,0.92:0.00,0.82:0.00,0.98:60,51:19.4,74.8:0,0:0,0:110,94:41,57:10,13:-,NM_024011.2(CDK11A) c.1003+273G>C:-,0.29:-,NOT_FOUND 1 1640392 . C . . NT END=1640476;NT GT ./. 1 1640573 . C . . NT END=1640917;NT GT ./. 1 1640808 . C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;NP=4;Gene=CDK11B/NM_001291345.1/0;CC=c.595+2895G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.625+2895G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.625+2895G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+6977G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.523+2895G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+6977G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.757+110G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.745+149G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.748+149G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.718+149G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:8:6:0:0:5,3:144,100:0.00,9.14:0.00,9.55:0.00,-0.41:0.00,0.67:0.00,0.93:0.00,0.67:27,27:8.2,33.3:0,0:0,0:123,132:28,19:10,13:-,NM_024011.2(CDK11A) c.748+149G>A:-,NOT_FOUND:-,NOT_FOUND 1 1641080 . C . . NT END=1643702;NT GT ./. 1 1643867 . C . . NT END=1647784;NT GT ./. 1 1647524 rs760930 C T 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2528,T/0.7472;Gene=CDK11B/NM_001291345.1/0;CC=c.458+261G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+261G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+261G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+261G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+261G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+261G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+261G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+261G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+261G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+261G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:397:45.42:43.38:2.04:1.00:1.00:1.00:60:73.3:0:0:43:106:26:NM_024011.2(CDK11A) c.488+261G>A,NM_024011.2(CDK11A) c.488+261G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 1647528 rs760931 G C 46 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2494,C/0.7506;Gene=CDK11B/NM_001291345.1/0;CC=c.458+257C>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+257C>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+257C>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+257C>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+257C>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+257C>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+257C>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+257C>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+257C>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+257C>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:397:45.86:43.97:1.89:1.00:1.00:1.00:60:70.5:0:0:41:109:24:NM_024011.2(CDK11A) c.488+257C>G,NM_024011.2(CDK11A) c.488+257C>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 1647649 rs70937179 C CT 135 sb,nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3353,CT/0.6647;NP=2726;Gene=CDK11B/NM_001291345.1/0;CC=c.458+135_458+136insA;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+135_488+136insA;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+135_488+136insA;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+135_-15+136insA;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+135_386+136insA;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+135_-21+136insA;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+135_458+136insA;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+135_458+136insA;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+135_488+136insA;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+135_458+136insA;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:CT:37:37:37:0:37:1170:134.64:132.80:1.84:1.00:1.00:1.00:60:41.1:0:0:52:99:35:NM_024011.2(CDK11A) c.488+135_488+136insA,NM_024011.2(CDK11A) c.488+135_488+136insA:0.7,0.7:NOT_FOUND,NOT_FOUND 1 1647686 rs909823 A C 181 nt VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.248,C/0.752;Gene=CDK11B/NM_001291345.1/0;CC=c.458+99T>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+99T>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+99T>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+99T>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+99T>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+99T>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+99T>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+99T>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+99T>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+99T>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:C,T:48:46:0:0:47,1:1589,13:180.88,0.34:167.45,0.00:13.44,0.34:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,128.0:0,0:0,0:47,6:104,142:26,0:NM_024011.2(CDK11A) c.488+99T>G,NM_024011.2(CDK11A) c.488+99T>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 1647722 rs114460890 G T 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.458+63C>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+63C>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+63C>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+63C>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+63C>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+63C>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+63C>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+63C>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+63C>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+63C>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G,T:91:80:0:0:1,81,9:8,2635,256:-0.32,0.00,17.33:-0.22,0.00,16.82:-0.10,0.00,0.52:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.89:60,60,60:197.0,28.0,268.8:0,0,0:0,0,0:18,45,61:133,106,60:0,31,5:-,NM_024011.2(CDK11A) c.488+63C>A:-,NOT_FOUND:-,NOT_FOUND 1 1647725 rs368680882 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.9968,A/.,C/0.003195;NP=5;Gene=CDK11B/NM_001291345.1/0;CC=c.458+60C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+60C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+60C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+60C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+60C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+60C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+60C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+60C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+60C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+60C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G,T:97:86:0:0:9,86,2:299,2820,50:21.28,0.00,1.94:20.67,0.00,-0.07:0.61,0.00,2.01:0.96,0.00,0.00:1.00,0.00,0.00:0.89,0.00,0.00:60,60,60:268.8,27.3,52.5:0,0,0:0,0,0:64,34,11:57,115,139:5,27,8:NM_024011.2(CDK11A) c.488+60C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1647726 rs80025558 T G 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CDK11B/NM_001291345.1/0;CC=c.458+59A>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+59A>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+59A>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+59A>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+59A>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+59A>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+59A>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+59A>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+59A>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+59A>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:C,G,T:101:90:0:0:1,11,89:11,376,2804:-0.26,27.81,0.00:-0.17,24.29,0.00:-0.10,3.52,0.00:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.94,0.00:60,60,60:91.0,269.5,26.8:0,0,0:0,0,0:7,66,32:117,56,117:0,5,25:NM_024011.2(CDK11A) c.488+59A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 1647729 . C T 21 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=106;Gene=CDK11B/NM_001291345.1/0;CC=c.458+56G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+56G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+56G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+56G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+56G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+56G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+56G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+56G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+56G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+56G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,T:106:95:0:0:97,9:3209,301:0.00,21.03:0.00,20.56:0.00,0.47:0.00,0.96:0.00,1.00:0.00,0.91:60,60:25.6,268.8:0,0:0,0:33,68:117,53:26,5:-,NM_024011.2(CDK11A) c.488+56G>A:-,NOT_FOUND:-,NOT_FOUND 1 1647730 . A G 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=109;Gene=CDK11B/NM_001291345.1/0;CC=c.458+55T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+55T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+55T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+55T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+55T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+55T>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+55T>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+55T>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+55T>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+55T>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,G:109:98:0:0:97,12:3122,427:0.00,32.02:0.00,27.25:0.00,4.77:0.00,0.99:0.00,1.00:0.00,0.98:60,60:24.8,261.5:0,0:0,0:35,69:115,52:28,5:-,NM_024011.2(CDK11A) c.488+55T>C:-,NOT_FOUND:-,NOT_FOUND 1 1647745 rs72634830 G A 112 nt VT=SNV;PN=C;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=NA;NP=606;Gene=CDK11B/NM_001291345.1/0;CC=c.458+40C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+40C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+40C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+40C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+40C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+40C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+40C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+40C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+40C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+40C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:126:0:0:42,109:1304,3260:111.71,0.00:82.63,0.00:29.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:175.7,20.5:0,0:0,0:20,34:118,114:9,19:NM_024011.2(CDK11A) c.488+40C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1647753 rs74045984 C T 136 nt VT=SNV;PN=T;NN=A;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=1154;Gene=CDK11B/NM_001291345.1/0;CC=c.458+32G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+32G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+32G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+32G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+32G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+32G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+32G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+32G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+32G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+32G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:174:146:0:1:1,120,1,52:10,4033,15,1570:-0.25,0.00,-0.12,136.01:-0.15,0.00,-0.21,96.63:-0.10,0.00,0.08,39.38:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:197.0,18.0,37.0,167.3:0,0,0,0:0,0,0,0:49,36,1,26:102,110,149,115:0,23,0,11:-,NM_024011.2(CDK11A) c.488+32G>A:-,NOT_FOUND:-,NOT_FOUND 1 1647778 rs72901773 C G 186 nt VT=SNV;PN=C;NN=A;SST=Single;DP=215;DB;DBA=NA;PAF=NA;PC=0.003;Gene=CDK11B/NM_001291345.1/0;CC=c.458+7G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.488+7G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.488+7G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-15+7G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.386+7G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-21+7G>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.458+7G>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.458+7G>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.488+7G>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.458+7G>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:215:179:0:0:1,144,70:11,4642,2110:-0.25,0.00,185.65:-0.12,0.00,135.33:-0.12,0.00,50.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:197.0,14.4,148.7:0,0,0:0,0,0:74,50,40:77,96,108:0,25,17:-,NM_024011.2(CDK11A) c.488+7G>C:-,0.5:-,NOT_FOUND 1 1647814 rs72901775 T C 227 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=232;DB;DBA=NA;PAF=NA;PC=0.982;Gene=CDK11B/NM_001291345.1/0;CC=c.429A>G;ProtCh=p.E143=;VC=Silent;Gene=CDK11B/NM_001787.2/0;CC=c.459A>G;ProtCh=p.E153=;VC=Silent;Gene=CDK11B/NM_033486.2/0;CC=c.459A>G;ProtCh=p.E153=;VC=Silent;Gene=CDK11B/NM_033487.2/0;CC=c.-44A>G;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.357A>G;ProtCh=p.E119=;VC=Silent;Gene=CDK11B/NM_033490.2/0;CC=c.-50A>G;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.429A>G;ProtCh=p.E143=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.429A>G;ProtCh=p.E143=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.459A>G;ProtCh=p.E153=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.429A>G;ProtCh=p.E143=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:232:173:0:0:1,77,1,153:9,2538,10,4943:-0.23,226.84,-0.22,0.00:-0.11,153.65,-0.10,0.00:-0.13,73.19,-0.13,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:137.0,128.9,30.0,14.9:0,0,0,0:0,0,0,0:88,65,118,72:58,77,33,70:0,20,0,25:NM_024011.2(CDK11A) c.459A>G (p.(=)),-:0.5,-:NOT_FOUND,- 1 1647871 rs72909014 T C 276 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=227;DB;DBA=NA;PAF=NA;PC=0.049;Gene=CDK11B/NM_001291345.1/0;CC=c.372A>G;ProtCh=p.R124=;VC=Silent;Gene=CDK11B/NM_001787.2/0;CC=c.402A>G;ProtCh=p.R134=;VC=Silent;Gene=CDK11B/NM_033486.2/0;CC=c.402A>G;ProtCh=p.R134=;VC=Silent;Gene=CDK11B/NM_033487.2/0;CC=c.-101A>G;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.300A>G;ProtCh=p.R100=;VC=Silent;Gene=CDK11B/NM_033490.2/0;CC=c.-107A>G;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.372A>G;ProtCh=p.R124=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.372A>G;ProtCh=p.R124=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.402A>G;ProtCh=p.R134=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.372A>G;ProtCh=p.R124=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:227:153:0:0:91,136:2990,4418:276.02,0.00:163.16,0.00:112.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:115.3,13.7:0,0:0,0:93,91:52,54:40,38:NM_024011.2(CDK11A) c.402A>G (p.(=)),-:0.5,-:NOT_FOUND,- 1 1647893 rs200224067 C CTTTCTT 199 PASS VT=INS;SST=Single;DP=204;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1421;PC=0.908;Gene=CDK11B/NM_001291345.1/0;CC=c.344_349dupAAGAAA;ProtCh=p.E116_R117insKE;VC=InFrameIns;Gene=CDK11B/NM_001787.2/0;CC=c.374_379dupAAGAAA;ProtCh=p.E126_R127insKE;VC=InFrameIns;Gene=CDK11B/NM_033486.2/0;CC=c.374_379dupAAGAAA;ProtCh=p.E126_R127insKE;VC=InFrameIns;Gene=CDK11B/NM_033487.2/0;CC=c.-129_-124dupAAGAAA;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.272_277dupAAGAAA;ProtCh=p.E92_R93insKE;VC=InFrameIns;Gene=CDK11B/NM_033490.2/0;CC=c.-135_-130dupAAGAAA;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.344_349dupAAGAAA;ProtCh=p.E116_R117insKE;VC=InFrameIns;Gene=CDK11A/NM_001313982/0;CC=c.344_349dupAAGAAA;ProtCh=p.E116_R117insKE;VC=InFrameIns;Gene=CDK11A/NM_024011.2/0;CC=c.374_379dupAAGAAA;ProtCh=p.E126_R127insKE;VC=InFrameIns;Gene=CDK11A/NM_033529.2/1;CC=c.344_349dupAAGAAA;ProtCh=p.E116_R117insKE;VC=InFrameIns;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTTTCTT:204:121:69:0:133,2,69:4470,61,2227:0.00,2.50,199.31:0.00,2.87,108.20:0.00,-0.37,91.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:26.1,213.5,104.5:1,0,0:0,0,0:100,0,51:49,151,96:37,0,31:-,NM_024011.2(CDK11A) c.374_379dupAAGAAA (p.Lys125_Glu126dup):-,NOT_FOUND:-,NOT_FOUND 1 1647918 . C . . NT END=1650766;NT GT ./. 1 1647928 rs1883424 A G 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=170;DB;DBA=NA;PAF=A/0.6526,G/0.3474;Gene=CDK11B/NM_001291345.1/0;CC=c.326-11T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-11T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-11T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-11T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-11T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-11T>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-11T>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-11T>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-11T>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-11T>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:170:78:0:0:136,34:4342,1070:0.00,86.34:0.00,20.83:0.00,65.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:77.4,40.9:0,0:0,0:76,77:65,62:27,28:-,NM_024011.2(CDK11A) c.356-11T>C:-,0.27:-,NOT_FOUND 1 1647968 rs146207119 C CAT 155 nt VT=INS;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=5;Gene=CDK11B/NM_001291345.1/0;CC=c.326-52_326-51insAT;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-52_356-51insAT;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-52_356-51insAT;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-52_-147-51insAT;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-52_254-51insAT;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-52_-153-51insAT;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-52_326-51insAT;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-52_326-51insAT;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-52_356-51insAT;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-52_326-51insAT;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAT:136:51:53:0:83,53:2530,1687:0.00,154.54:0.00,69.88:0.00,84.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.4,165.6:0,0:0,0:110,93:35,54:26,18:-,NM_024011.2(CDK11A) c.356-52_356-51insAT:-,NOT_FOUND:-,NOT_FOUND 1 1647971 rs77394327 G A 155 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.326-54C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-54C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-54C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-54C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-54C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-54C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-54C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-54C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-54C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-54C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:124:45:0:0:52,72:1669,2238:155.05,0.00:65.60,0.00:89.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:164.2,26.4:52,0:0,0:98,105:50,40:18,26:NM_024011.2(CDK11A) c.356-54C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1647983 rs74429813 T A 161 nt VT=SNV;PN=G;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=NA;PC=0.013;Gene=CDK11B/NM_001291345.1/0;CC=c.326-66A>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-66A>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-66A>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-66A>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-66A>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-66A>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-66A>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-66A>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-66A>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-66A>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:113:41:0:0:54,59:1695,1880:161.23,0.00:53.07,0.00:108.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:181.0,32.5:0,0:0,0:102,106:42,40:21,19:NM_024011.2(CDK11A) c.356-66A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1647990 rs76519969 C T 155 nt VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.326-73G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-73G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-73G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-73G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-73G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-73G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-73G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-73G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-73G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-73G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:37:0:0:56,51:1714,1627:0.00,154.92:0.00,50.37:0.00,104.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.9,185.0:0,0:0,0:115,105:33,37:20,21:-,NM_024011.2(CDK11A) c.356-73G>A:-,NOT_FOUND:-,NOT_FOUND 1 1648002 rs77107184 C T 145 nt VT=SNV;PN=C;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.326-85G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-85G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-85G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-85G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-85G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-85G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-85G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-85G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-85G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-85G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:29:0:0:51,50:1654,1521:0.00,145.38:0.00,48.67:0.00,96.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.8,191.7:0,0:0,0:117,117:33,26:19,21:-,NM_024011.2(CDK11A) c.356-85G>A:-,NOT_FOUND:-,NOT_FOUND 1 1648018 rs79409185 C T 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.326-101G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-101G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-101G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-101G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-101G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-101G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-101G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-101G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-101G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-101G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:78:18:0:0:1,41,36:12,1137,1170:-0.04,0.00,111.19:0.18,0.00,28.88:-0.22,0.00,82.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,60,60:185.0,45.8,208.4:0,0,0:0,0,0:127,111,119:24,39,32:0,30,20:-,NM_024011.2(CDK11A) c.356-101G>A:-,0.36:-,NOT_FOUND 1 1648027 rs61776857 T C 207 nt VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.2298,C/0.7702;Gene=CDK11B/NM_001291345.1/0;CC=c.326-110A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-110A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-110A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-110A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-110A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-110A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-110A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-110A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-110A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-110A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:C:64:12:0:0:64:1772:206.85:27.79:179.06:1.00:1.00:1.00:60:133.1:0:0:110:40:29:NM_024011.2(CDK11A) c.356-110A>G,NM_024011.2(CDK11A) c.356-110A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 1648053 . A G 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;Gene=CDK11B/NM_001291345.1/0;CC=c.326-136T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-136T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-136T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-136T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-136T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-136T>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-136T>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-136T>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-136T>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-136T>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:40:0:0:0:20,1,19:595,11,595:0.00,0.05,56.83:0.00,0.00,0.00:0.00,0.05,56.83:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:50.5,28.0,234.5:0,0,0:0,0,0:108,137,86:41,13,60:25,0,22:-,NM_024011.2(CDK11A) c.356-136T>C:-,NOT_FOUND:-,NOT_FOUND 1 1648054 . A G 60 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;Gene=CDK11B/NM_001291345.1/0;CC=c.326-137T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-137T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-137T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-137T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-137T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-137T>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-137T>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-137T>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-137T>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-137T>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:0:0:0:21,19:496,626:0.00,59.72:0.00,0.00:0.00,59.72:0.00,1.00:0.00,0.00:0.00,1.00:60,60:49.5,234.5:0,0:0,0:110,87:40,59:27,22:-,NM_024011.2(CDK11A) c.356-137T>C:-,NOT_FOUND:-,NOT_FOUND 1 1648058 rs77653063 G T 55 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.326-141C>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-141C>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-141C>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-141C>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-141C>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-141C>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-141C>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-141C>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-141C>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-141C>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:38:0:0:0:19,19:596,575:0.00,55.08:0.00,0.00:0.00,55.08:0.00,1.00:0.00,0.00:0.00,1.00:60,60:49.6,234.5:0,0:0,0:112,91:37,55:23,22:-,NM_024011.2(CDK11A) c.356-141C>A:-,NOT_FOUND:-,NOT_FOUND 1 1648124 rs374315769 G A 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.326-207C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-207C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-207C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-207C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-207C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-207C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-207C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-207C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-207C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-207C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:A,G:20:0:0:0:6,14:190,440:16.56,0.00:0.00,0.00:16.56,0.00:0.94,0.00:0.00,0.00:0.94,0.00:52,60:219.8,128.7:0,0:0,0:114,113:32,36:9,33:NM_024011.2(CDK11A) c.356-207C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1648140 rs75325912 G C 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.326-223C>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-223C>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-223C>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-223C>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-223C>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-223C>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-223C>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-223C>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-223C>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-223C>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:15:0:0:0:9,6:264,200:26.25,0.00:0.00,0.00:26.25,0.00:1.00,0.00:0.00,0.00:1.00,0.00:52,60:237.2,40.3:0,0:0,0:121,99:20,51:13,38:NM_024011.2(CDK11A) c.356-223C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1648148 . G C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;Gene=CDK11B/NM_001291345.1/0;CC=c.326-231C>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-231C>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-231C>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-231C>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-231C>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-231C>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-231C>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-231C>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-231C>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-231C>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,G:12:0:0:0:8,4:200,131:20.35,0.00:0.00,0.00:20.35,0.00:1.00,0.00:0.00,0.00:1.00,0.00:52,60:240.0,40.8:0,0:0,0:122,75:12,75:18,14:NM_024011.2(CDK11A) c.356-231C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1648160 . T A 9 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;Gene=CDK11B/NM_001291345.1/0;CC=c.326-243A>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-243A>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-243A>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-243A>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-243A>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-243A>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-243A>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-243A>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-243A>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-243A>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,T:7:0:0:0:3,4:95,134:8.85,0.00:0.00,0.00:8.85,0.00:0.69,0.00:0.00,0.00:0.69,0.00:18,60:278.7,40.8:0,0:0,0:107,87:38,63:3,14:NM_024011.2(CDK11A) c.356-243A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1648162 . T A 9 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;Gene=CDK11B/NM_001291345.1/0;CC=c.326-245A>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-245A>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-245A>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-245A>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-245A>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-245A>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-245A>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-245A>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-245A>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-245A>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,T:6:0:0:0:3,3:89,95:8.52,0.00:0.00,0.00:8.52,0.00:0.73,0.00:0.00,0.00:0.73,0.00:18,60:278.7,44.3:0,0:0,0:109,88:36,63:3,3:NM_024011.2(CDK11A) c.356-245A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1648168 . C T 9 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;Gene=CDK11B/NM_001291345.1/0;CC=c.326-251G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-251G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-251G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-251G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-251G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-251G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-251G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-251G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-251G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-251G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:6:0:0:0:3,3:100,98:0.00,9.42:0.00,0.00:0.00,9.42:0.00,0.73:0.00,0.00:0.00,0.73:60,18:44.3,278.7:0,0:0,0:94,115:57,30:3,3:-,NM_024011.2(CDK11A) c.356-251G>A:-,NOT_FOUND:-,NOT_FOUND 1 1648169 . A G 10 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;Gene=CDK11B/NM_001291345.1/0;CC=c.326-252T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-252T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-252T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-252T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-252T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-252T>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-252T>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-252T>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-252T>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-252T>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:6:0:0:0:3,3:89,105:0.00,10.13:0.00,0.00:0.00,10.13:0.00,0.73:0.00,0.00:0.00,0.73:60,18:44.3,278.7:0,0:0,0:95,116:56,29:3,3:-,NM_024011.2(CDK11A) c.356-252T>C:-,NOT_FOUND:-,NOT_FOUND 1 1648185 . T C 7 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;Gene=CDK11B/NM_001291345.1/0;CC=c.326-268A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-268A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-268A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-268A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-268A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-268A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-268A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-268A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-268A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-268A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:C,T:6:0:0:0:3,3:71,104:6.71,0.00:0.00,0.00:6.71,0.00:0.73,0.00:0.00,0.00:0.73,0.00:18,60:278.7,44.3:0,0:0,0:132,111:13,40:3,3:NM_024011.2(CDK11A) c.356-268A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1648195 . G A 9 end;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;Gene=CDK11B/NM_001291345.1/0;CC=c.326-278C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-278C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-278C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-278C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-278C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-278C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-278C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-278C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-278C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-278C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:6:0:0:0:3,3:94,95:9.02,0.00:0.00,0.00:9.02,0.00:0.73,0.00:0.00,0.00:0.73,0.00:18,60:278.7,44.3:0,0:0,0:142,121:3,30:3,3:NM_024011.2(CDK11A) c.356-278C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1648208 rs61776858 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.253,T/0.747;Gene=CDK11B/NM_001291345.1/0;CC=c.326-291G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.356-291G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.356-291G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-147-291G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.254-291G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-153-291G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.326-291G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.326-291G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.356-291G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.326-291G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:C,T:4:0:0:0:1,3:19,98:0.00,10.26:0.00,0.00:0.00,10.26:0.00,0.85:0.00,0.00:0.00,0.85:18,60:294.0,44.3:0,0:0,0:109,134:31,17:0,3:-,NM_024011.2(CDK11A) c.356-291G>A:-,0.67:-,NOT_FOUND 1 1649475 . T C 11 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;PC=0.047;Gene=CDK11B/NM_001291345.1/0;CC=c.325+1322A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+1292A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+1292A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+1292A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+1292A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+1292A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+1322A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+1322A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+1292A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+1322A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T:4:4:0:0:3,1:103,23:10.76,0.00:10.76,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:16,15:127.7,113.0:0,0:0,0:19,90:132,16:10,0:NM_024011.2(CDK11A) c.355+1292A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1649485 . G T 14 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;PC=0.027;Gene=CDK11B/NM_001291345.1/0;CC=c.325+1312C>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+1282C>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+1282C>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+1282C>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+1282C>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+1282C>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+1312C>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+1312C>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+1282C>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+1312C>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,T:5:5:0:0:1,4:7,128:0.51,14.32:0.51,14.32:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:15,16:113.0,142.2:0,3:0,0:100,21:6,130:0,12:NM_024011.2(CDK11A) c.355+1282C>A,NM_024011.2(CDK11A) c.355+1282C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1649498 rs201586872 C A 14 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=24;PC=0.066;Gene=CDK11B/NM_001291345.1/0;CC=c.325+1299G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+1269G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+1269G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+1269G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+1269G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+1269G>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+1299G>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+1299G>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+1269G>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+1299G>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:121:14.00:14.00:0.00:1.00:1.00:0.00:16:142.2:0:0:34:117:12:NM_024011.2(CDK11A) c.355+1269G>T,NM_024011.2(CDK11A) c.355+1269G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1649501 rs200198039 C G 7 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;PC=0.154;Gene=CDK11B/NM_001291345.1/0;CC=c.325+1296G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+1266G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+1266G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+1266G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+1266G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+1266G>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+1296G>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+1296G>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+1266G>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+1296G>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,G:4:4:0:0:2,2:45,68:0.00,6.56:0.00,6.56:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:12,16:117.5,167.0:0,0:0,0:37,53:114,75:5,36:-,NM_024011.2(CDK11A) c.355+1266G>C:-,NOT_FOUND:-,NOT_FOUND 1 1649557 rs36165069 C T 9 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=16;PC=0.496;Gene=CDK11B/NM_001291345.1/0;CC=c.325+1240G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+1210G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+1210G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+1210G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+1210G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+1210G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+1240G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+1240G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+1210G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+1240G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:7:7:0:0:4,3:92,92:0.00,8.57:0.00,8.57:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:20,16:144.8,134.7:0,0:0,0:58,73:92,75:35,18:-,NM_024011.2(CDK11A) c.355+1210G>A:-,NOT_FOUND:-,NOT_FOUND 1 1649619 rs140903459 A G,T 7 end;mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=32;PC=0.174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:9:G,T:4:4:0:0:3,1:65,14:7.45,1.28:7.45,1.28:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:20,6:162.7,100.0:0,0:0,0:117,150:14,1:18,0:NM_024011.2(CDK11A) c.355+1148T>C,NM_024011.2(CDK11A) c.355+1148T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1650410 rs1967677 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2532,C/0.7468;PC=0.013;Gene=CDK11B/NM_001291345.1/0;CC=c.325+387A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+357A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+357A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+357A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+357A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+357A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+387A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+387A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+357A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+387A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:114:13.26:13.26:0.00:1.00:1.00:0.00:60:55.2:0:0:62:70:22:NM_024011.2(CDK11A) c.355+357A>G,NM_024011.2(CDK11A) c.355+357A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1650619 rs74763557 C A 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.056;Gene=CDK11B/NM_001291345.1/0;CC=c.325+178G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+148G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+148G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+148G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+148G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+148G>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+178G>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+178G>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+148G>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+178G>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:34:34:0:0:19,15:632,439:62.16,0.00:59.01,0.00:3.15,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:184.5,4.6:0,0:0,0:17,108:134,43:12,41:NM_024011.2(CDK11A) c.355+148G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1650640 rs74871563 C A 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.325+157G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+127G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+127G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+127G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+127G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+127G>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+157G>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+157G>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+127G>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+157G>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:38:36:0:0:22,16:724,502:71.66,0.00:66.86,0.00:4.80,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:173.4,1.9:0,0:0,0:32,32:119,117:10,27:NM_024011.2(CDK11A) c.355+127G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1650641 rs79670681 A C 73 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.325+156T>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+126T>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+126T>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+126T>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+126T>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+126T>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+156T>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+156T>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+126T>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+156T>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:39:37:0:0:17,22:544,738:0.00,72.70:0.00,68.37:0.00,4.32:0.00,1.00:0.00,1.00:0.00,0.98:60,60:2.5,173.4:0,0:0,0:37,33:113,118:32,10:-,NM_024011.2(CDK11A) c.355+126T>G:-,NOT_FOUND:-,NOT_FOUND 1 1650642 rs78989514 T G 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.325+155A>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+125A>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+125A>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+125A>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+125A>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+125A>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+155A>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+155A>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+125A>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+155A>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:40:37:0:0:23,17:680,509:67.02,0.00:58.62,0.00:8.40,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:169.6,2.9:0,0:0,0:33,41:118,108:11,38:NM_024011.2(CDK11A) c.355+125A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 1650657 rs72909028 C G 114 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=1564;Gene=CDK11B/NM_001291345.1/0;CC=c.325+140G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.355+110G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.355+110G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-148+110G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.253+110G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-154+110G>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.325+140G>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+140G>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.355+110G>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.325+140G>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:58:50:0:0:24,34:710,1144:0.00,113.59:0.00,87.47:0.00,26.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,141.2:0,0:0,0:21,40:129,110:18,21:-,NM_024011.2(CDK11A) c.355+110G>C:-,NOT_FOUND:-,NOT_FOUND 1 1650787 rs1137003 T C 196 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.325+10A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.335A>G;ProtCh=p.H112R;VC=Missense;Gene=CDK11B/NM_033486.2/0;CC=c.335A>G;ProtCh=p.H112R;VC=Missense;Gene=CDK11B/NM_033487.2/0;CC=c.-168A>G;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.233A>G;ProtCh=p.H78R;VC=Missense;Gene=CDK11B/NM_033490.2/0;CC=c.-174A>G;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.325+10A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.325+10A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.335A>G;ProtCh=p.H112R;VC=Missense;Gene=CDK11A/NM_033529.2/1;CC=c.325+10A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:131:91:0:0:64,67:2044,2152:195.51,0.00:93.77,0.00:101.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:124.5,52.1:0,0:0,0:82,62:69,84:37,39:NM_024011.2(CDK11A) c.335A>G (p.His112Arg),-:0.5,-:NOT_FOUND,- 1 1650797 rs1059830 A G 189 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.325T>C;ProtCh=p.W109R;VC=Missense;Gene=CDK11B/NM_001787.2/0;CC=c.325T>C;ProtCh=p.C109R;VC=Missense;Gene=CDK11B/NM_033486.2/0;CC=c.325T>C;ProtCh=p.C109R;VC=Missense;Gene=CDK11B/NM_033487.2/0;CC=c.-178T>C;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.223T>C;ProtCh=p.C75R;VC=Missense;Gene=CDK11B/NM_033490.2/0;CC=c.-184T>C;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.325T>C;ProtCh=p.W109R;VC=Missense;Gene=CDK11A/NM_001313982/0;CC=c.325T>C;ProtCh=p.W109R;VC=Missense;Gene=CDK11A/NM_024011.2/0;CC=c.325T>C;ProtCh=p.C109R;VC=Missense;Gene=CDK11A/NM_033529.2/1;CC=c.325T>C;ProtCh=p.W109R;VC=Missense;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:128:86:0:0:67,61:2144,1985:0.00,189.15:0.00,84.95:0.00,104.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.6,133.7:0,0:0,0:86,64:59,87:39,41:-,NM_024011.2(CDK11A) c.325T>C (p.Cys109Arg):-,0.5:-,NOT_FOUND 1 1650801 rs1137004 T C 203 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.321A>G;ProtCh=p.E107=;VC=Silent;Gene=CDK11B/NM_001787.2/0;CC=c.321A>G;ProtCh=p.E107=;VC=Silent;Gene=CDK11B/NM_033486.2/0;CC=c.321A>G;ProtCh=p.E107=;VC=Silent;Gene=CDK11B/NM_033487.2/0;CC=c.-182A>G;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.219A>G;ProtCh=p.E73=;VC=Silent;Gene=CDK11B/NM_033490.2/0;CC=c.-188A>G;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.321A>G;ProtCh=p.E107=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.321A>G;ProtCh=p.E107=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.321A>G;ProtCh=p.E107=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.321A>G;ProtCh=p.E107=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:129:87:0:0:63,66:2120,2097:203.22,0.00:97.51,0.00:105.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:133.9,56.5:0,0:0,0:62,73:89,76:39,42:NM_024011.2(CDK11A) c.321A>G (p.(=)),-:0.5,-:NOT_FOUND,- 1 1650807 rs1137005 T C 190 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=T/0.2526,C/0.7474;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.315A>G;ProtCh=p.R105=;VC=Silent;Gene=CDK11B/NM_001787.2/0;CC=c.315A>G;ProtCh=p.R105=;VC=Silent;Gene=CDK11B/NM_033486.2/0;CC=c.315A>G;ProtCh=p.R105=;VC=Silent;Gene=CDK11B/NM_033487.2/0;CC=c.-188A>G;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.213A>G;ProtCh=p.R71=;VC=Silent;Gene=CDK11B/NM_033490.2/0;CC=c.-194A>G;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.315A>G;ProtCh=p.R105=;VC=Silent;Gene=CDK11A/NM_001313982/0;CC=c.315A>G;ProtCh=p.R105=;VC=Silent;Gene=CDK11A/NM_024011.2/0;CC=c.315A>G;ProtCh=p.R105=;VC=Silent;Gene=CDK11A/NM_033529.2/1;CC=c.315A>G;ProtCh=p.R105=;VC=Silent;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:128:82:0:0:63,65:1982,2134:189.61,0.00:104.32,0.00:85.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.8,130.0:0,0:0,0:72,68:79,83:35,43:NM_024011.2(CDK11A) c.315A>G (p.(=)),-:0.46,-:NOT_FOUND,- 1 1650832 rs72909030 A G 222 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=130;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.290T>C;ProtCh=p.V97A;VC=Missense;Gene=CDK11B/NM_001787.2/0;CC=c.290T>C;ProtCh=p.V97A;VC=Missense;Gene=CDK11B/NM_033486.2/0;CC=c.290T>C;ProtCh=p.V97A;VC=Missense;Gene=CDK11B/NM_033487.2/0;CC=c.-213T>C;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.188T>C;ProtCh=p.V63A;VC=Missense;Gene=CDK11B/NM_033490.2/0;CC=c.-219T>C;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.290T>C;ProtCh=p.V97A;VC=Missense;Gene=CDK11A/NM_001313982/0;CC=c.290T>C;ProtCh=p.V97A;VC=Missense;Gene=CDK11A/NM_024011.2/0;CC=c.290T>C;ProtCh=p.V97A;VC=Missense;Gene=CDK11A/NM_033529.2/1;CC=c.290T>C;ProtCh=p.V97A;VC=Missense;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:130:83:0:0:60,70:1875,2278:0.00,222.15:0.00,111.89:0.00,110.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.8,143.6:0,0:0,0:68,63:81,84:29,36:-,NM_024011.2(CDK11A) c.290T>C (p.Val97Ala):-,0.5:-,NOT_FOUND 1 1650845 rs1059831 G A 186 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=130;DB;DBA=NA;PAF=G/0.2526,A/0.7474;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.277C>T;ProtCh=p.R93W;VC=Missense;Gene=CDK11B/NM_001787.2/0;CC=c.277C>T;ProtCh=p.R93W;VC=Missense;Gene=CDK11B/NM_033486.2/0;CC=c.277C>T;ProtCh=p.R93W;VC=Missense;Gene=CDK11B/NM_033487.2/0;CC=c.-226C>T;VC=5UTR;Gene=CDK11B/NM_033489.2/1;CC=c.175C>T;ProtCh=p.R59W;VC=Missense;Gene=CDK11B/NM_033490.2/0;CC=c.-232C>T;VC=5UTR;Gene=CDK11A/NM_001313896/0;CC=c.277C>T;ProtCh=p.R93W;VC=Missense;Gene=CDK11A/NM_001313982/0;CC=c.277C>T;ProtCh=p.R93W;VC=Missense;Gene=CDK11A/NM_024011.2/0;CC=c.277C>T;ProtCh=p.R93W;VC=Missense;Gene=CDK11A/NM_033529.2/1;CC=c.277C>T;ProtCh=p.R93W;VC=Missense;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:130:81:0:0:63,67:1949,1957:185.96,0.00:81.20,0.00:104.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.8,145.3:0,0:0,0:70,67:79,82:35,29:NM_024011.2(CDK11A) c.277C>T (p.Arg93Trp),-:0.46,-:0.449592,- 1 1650895 . C . . NT END=1653034;NT GT ./. 1 1650920 rs36191908 G A 68 nt VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.228-26C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-26C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-26C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-26C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-26C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-26C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-26C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-26C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-26C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-26C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:126:65:0:0:26,100:838,3117:68.40,0.00:24.99,0.00:43.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:191.0,79.1:0,0:0,0:107,73:36,73:31,34:NM_024011.2(CDK11A) c.228-26C>T,-:0.38,-:NOT_FOUND,- 1 1650939 rs201741924 G A 129 nt VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=180;Gene=CDK11B/NM_001291345.1/0;CC=c.228-45C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-45C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-45C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-45C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-45C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-45C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-45C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-45C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-45C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-45C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:105:50:0:0:44,1,58,2:1382,25,1790,26:128.84,0.77,0.00,0.15:44.41,-0.09,0.00,0.47:84.43,0.85,0.00,-0.32:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:208.3,89.0,19.8,145.0:0,0,0,0:0,0,0,0:95,47,86,129:54,94,63,22:25,0,26,6:NM_024011.2(CDK11A) c.228-45C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1650940 rs74345479 G A 124 nt VT=SNV;PN=G;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=146;Gene=CDK11B/NM_001291345.1/0;CC=c.228-46C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-46C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-46C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-46C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-46C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-46C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-46C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-46C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-46C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-46C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:104:49:0:0:43,60,1:1335,1877,9:123.62,0.00,-0.18:43.33,0.00,-0.09:80.28,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:209.7,22.2,214.0:0,0,0:0,0,0:96,85,18:54,63,132:20,29,0:NM_024011.2(CDK11A) c.228-46C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1650942 rs75972011 A G 128 nt VT=SNV;PN=A;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=155;Gene=CDK11B/NM_001291345.1/0;CC=c.228-48T>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-48T>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-48T>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-48T>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-48T>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-48T>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-48T>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-48T>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-48T>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-48T>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:46:0:0:56,43:1803,1371:0.00,128.14:0.00,44.79:0.00,83.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.1,210.8:0,0:0,0:89,93:58,58:26,26:-,NM_024011.2(CDK11A) c.228-48T>C:-,NOT_FOUND:-,NOT_FOUND 1 1650960 rs72634834 G A 110 nt VT=SNV;PN=T;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=CDK11B/NM_001291345.1/0;CC=c.228-66C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-66C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-66C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-66C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-66C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-66C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-66C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-66C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-66C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-66C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:36:0:0:40,50:1179,1692:110.00,0.00:31.40,0.00:78.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:219.8,17.5:0,0:0,0:102,103:48,44:29,23:NM_024011.2(CDK11A) c.228-66C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1650967 rs75384210 T C 94 nt VT=SNV;PN=T;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=5;Gene=CDK11B/NM_001291345.1/0;CC=c.228-73A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-73A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-73A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-73A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-73A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-73A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-73A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-73A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-73A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-73A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:82:31:0:0:33,49:1019,1504:93.60,0.00:25.77,0.00:67.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:229.7,15.8:0,0:0,0:101,102:49,49:31,23:NM_024011.2(CDK11A) c.228-73A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1650996 rs74223875 T C 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=641;Gene=CDK11B/NM_001291345.1/0;CC=c.228-102A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-102A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-102A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-102A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-102A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-102A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-102A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-102A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-102A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-102A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:17:0:0:26,39:820,1097:75.50,0.00:10.36,0.00:65.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:234.0,17.3:0,0:0,0:107,104:42,42:30,23:NM_024011.2(CDK11A) c.228-102A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1651003 rs76941027 G A 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=492;Gene=CDK11B/NM_001291345.1/0;CC=c.228-109C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-109C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-109C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-109C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-109C>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-109C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-109C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-109C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-109C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-109C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:61:16:0:0:26,34,1:779,1088,7:72.44,0.00,-0.17:7.95,0.00,-0.06:64.49,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:238.4,12.3,281.0:0,0,0:0,0,0:107,107,78:43,42,68:24,26,0:NM_024011.2(CDK11A) c.228-109C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1651047 rs72909034 C T 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=368;Gene=CDK11B/NM_001291345.1/0;CC=c.228-153G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-153G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-153G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-153G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-153G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-153G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-153G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-153G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-153G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-153G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:2:0:0:18,13:507,351:0.00,32.12:0.00,-0.24:0.00,32.35:0.00,1.00:0.00,0.72:0.00,1.00:60,60:7.4,219.8:0,0:0,0:118,125:28,17:25,11:-,NM_024011.2(CDK11A) c.228-153G>A:-,NOT_FOUND:-,NOT_FOUND 1 1651063 rs72634835 T C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=174;PC=0.008;Gene=CDK11B/NM_001291345.1/0;CC=c.228-169A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-169A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-169A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-169A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-169A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-169A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-169A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-169A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-169A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-169A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:0:0:0:9,14:294,460:27.01,0.00:0.00,0.00:27.01,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:215.1,21.1:0,1:0,0:138,116:4,25:12,21:NM_024011.2(CDK11A) c.228-169A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1651076 . ACGGAGT A 9 nt VT=DEL;SST=Single;DP=8;NP=8;PC=0.010;Gene=CDK11B/NM_001291345.1/0;CC=c.228-188_228-183delACTCCG;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-188_228-183delACTCCG;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-188_228-183delACTCCG;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-188_-275-183delACTCCG;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-188_126-183delACTCCG;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-188_-281-183delACTCCG;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-188_228-183delACTCCG;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-188_228-183delACTCCG;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-188_228-183delACTCCG;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-188_228-183delACTCCG;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:ACGGAGT,A:8:0:0:5:5,3:138,95:0.00,8.63:0.00,0.00:0.00,8.63:0.00,0.67:0.00,0.00:0.00,0.67:60,60:9.6,21.3:3,0:0,0:73,118:78,22:46,2:-,NM_024011.2(CDK11A) c.228-188_228-183delACTCCG:-,NOT_FOUND:-,NOT_FOUND 1 1651077 rs70937183 C CTCGCTCTGTCACCCAGGCT 10 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2792,CTCGCTCTGTCACCCAGGCT/0.7208;PC=0.005;Gene=CDK11B/NM_001291345.1/0;CC=c.228-184_228-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.228-184_228-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.228-184_228-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-275-184_-275-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.126-184_126-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-281-184_-281-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.228-184_228-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.228-184_228-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.228-184_228-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.228-184_228-183insAGCCTGGGTGACAGAGCGA;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,CTCGCTCTGTCACCCAGGCT:5:0:3:6:2,3:63,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:24.0,0.0:0,0:0,0:148,70:1,81:1,4:-,NM_024011.2(CDK11A) c.228-184_228-183insAGCCTGGGTGACAGAGCGA:-,NOT_FOUND:-,NOT_FOUND 1 1653004 rs36039898 T C 357 nt VT=SNV;PN=G;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.2526,C/0.7474;Gene=CDK11B/NM_001291345.1/0;CC=c.227+31A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.227+31A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.227+31A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-276+31A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.125+31A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-282+31A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.227+31A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.227+31A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.227+31A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.227+31A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:94:77:0:0:94:3129:357.50:234.46:123.03:1.00:1.00:1.00:60:74.2:0:0:57:90:27:NM_024011.2(CDK11A) c.227+31A>G,NM_024011.2(CDK11A) c.227+31A>G:0.74,0.74:0.808472,0.808472 1 1653028 rs16825265 C T 412 nt VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.2526,T/0.7474;Gene=CDK11B/NM_001291345.1/0;CC=c.227+7G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.227+7G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.227+7G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-276+7G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.125+7G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-282+7G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.227+7G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.227+7G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.227+7G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.227+7G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:105:84:0:0:105:3618:411.87:255.15:156.73:1.00:1.00:1.00:60:72.2:0:0:74:74:30:NM_024011.2(CDK11A) c.227+7G>A,NM_024011.2(CDK11A) c.227+7G>A:0.8,0.8:0.81277,0.81277 1 1653151 . c . . NT END=1654146;NT GT ./. 1 1653303 rs35548050 T C 170 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.2522,C/0.7478;Gene=CDK11B/NM_001291345.1/0;CC=c.112-153A>G;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.112-153A>G;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.112-153A>G;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-391-153A>G;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.10-153A>G;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-397-153A>G;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.112-153A>G;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.112-153A>G;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.112-153A>G;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.112-153A>G;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C,T:46:11:0:0:45,1:1508,30:170.13,0.00:22.20,0.00:147.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,42:58.4,0.0:0,1:0,0:100,146:51,5:37,0:NM_024011.2(CDK11A) c.112-153A>G,NM_024011.2(CDK11A) c.112-153A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 1653332 rs34038185 GT G 129 nt VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=GT/0.2524,G/0.7476;NP=346;PC=0.005;Gene=CDK11B/NM_001291345.1/0;CC=c.112-183delA;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.112-183delA;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.112-183delA;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-391-183delA;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.10-183delA;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-397-183delA;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.112-183delA;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.112-183delA;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.112-183delA;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.112-183delA;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:GT,G:37:4:0:36:1,36:29,1138:0.00,128.97:0.00,11.35:0.00,117.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.0,69.2:0,0:0,0:149,80:1,70:0,41:NM_024011.2(CDK11A) c.112-183delA,NM_024011.2(CDK11A) c.112-183delA:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1653361 rs2206307 C T 108 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2524,T/0.7476;Gene=CDK11B/NM_001291345.1/0;CC=c.112-211G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.112-211G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.112-211G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-391-211G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.10-211G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-397-211G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.112-211G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.112-211G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.112-211G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.112-211G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:2:0:0:29:937:107.52:6.15:101.37:1.00:1.00:1.00:60:83.9:0:0:82:69:28:NM_024011.2(CDK11A) c.112-211G>A,NM_024011.2(CDK11A) c.112-211G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 1653414 rs2206308 C T 67 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2524,T/0.7476;PC=0.001;Gene=CDK11B/NM_001291345.1/0;CC=c.112-264G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.112-264G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.112-264G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-391-264G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.10-264G>A;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-397-264G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.112-264G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.112-264G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.112-264G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.112-264G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:1:0:0:19:580:67.03:1.99:65.04:1.00:1.00:1.00:60:90.6:0:0:111:40:25:NM_024011.2(CDK11A) c.112-264G>A,NM_024011.2(CDK11A) c.112-264G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 1653885 rs61777493 C A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2348,A/0.7652;Gene=CDK11B/NM_001291345.1/0;CC=c.111+262G>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.111+262G>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.111+262G>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-392+262G>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.9+142G>T;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-398+262G>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.111+262G>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.111+262G>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.111+262G>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.111+262G>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:225:25.84:25.84:0.00:1.00:1.00:0.00:58:39.0:0:0:58:93:13:NM_024011.2(CDK11A) c.111+262G>T,NM_024011.2(CDK11A) c.111+262G>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 1654013 rs74045997 C G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3407,G/0.6593;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.111+134G>C;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.111+134G>C;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.111+134G>C;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-392+134G>C;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.9+14G>C;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-398+134G>C;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.111+134G>C;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.111+134G>C;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.111+134G>C;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.111+134G>C;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:163:18.68:15.31:3.38:1.00:1.00:1.00:40:124.4:0:0:10:139:8:NM_024011.2(CDK11A) c.111+134G>C,NM_024011.2(CDK11A) c.111+134G>C:0.65,0.65:NOT_FOUND,NOT_FOUND 1 1654038 rs61777494 G A 39 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.111+109C>T;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.111+109C>T;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.111+109C>T;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-392+109C>T;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.-3C>T;VC=5UTR;Gene=CDK11B/NM_033490.2/0;CC=c.-398+109C>T;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.111+109C>T;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.111+109C>T;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.111+109C>T;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.111+109C>T;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,G:12:11:0:0:11,1:352,34:38.95,0.00:38.06,0.00:0.89,0.00:1.00,0.00:1.00,0.00:0.99,0.00:49,40:116.3,29.0:0,0:0,0:18,26:133,125:11,0:NM_024011.2(CDK11A) c.111+109C>T,-:0.61,-:NOT_FOUND,- 1 1654058 rs61777495 C T 64 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.465;Gene=CDK11B/NM_001291345.1/0;CC=c.111+89G>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.111+89G>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.111+89G>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-392+89G>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.-23G>A;VC=5UTR;Gene=CDK11B/NM_033490.2/0;CC=c.-398+89G>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.111+89G>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.111+89G>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.111+89G>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.111+89G>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C,T:19:18:0:0:1,18:34,572:0.00,64.03:0.00,59.67:0.00,4.36:0.00,1.00:0.00,1.00:0.00,1.00:40,49:29.0,103.3:0,0:0,0:46,28:105,123:0,12:NM_024011.2(CDK11A) c.111+89G>A,NM_024011.2(CDK11A) c.111+89G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 1654064 rs200615789 A T 63 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3329,T/0.6671;PC=1.000;Gene=CDK11B/NM_001291345.1/0;CC=c.111+83T>A;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.111+83T>A;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.111+83T>A;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-392+83T>A;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.-29T>A;VC=5UTR;Gene=CDK11B/NM_033490.2/0;CC=c.-398+83T>A;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.111+83T>A;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.111+83T>A;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.111+83T>A;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.111+83T>A;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A,T:19:18:0:0:1,18:34,561:0.00,62.94:0.00,58.43:0.00,4.51:0.00,1.00:0.00,1.00:0.00,1.00:40,49:29.0,96.1:0,18:0,0:52,31:99,120:0,9:NM_024011.2(CDK11A) c.111+83T>A,NM_024011.2(CDK11A) c.111+83T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1654065 rs35174499 AGCG A 59 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=AGCG/0.3329,A/0.6671;NP=350;PC=0.991;Gene=CDK11B/NM_001291345.1/0;CC=c.111+79_111+81delCGC;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.111+79_111+81delCGC;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.111+79_111+81delCGC;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-392+79_-392+81delCGC;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.-33_-31delCGC;VC=5UTR;Gene=CDK11B/NM_033490.2/0;CC=c.-398+79_-398+81delCGC;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.111+79_111+81delCGC;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.111+79_111+81delCGC;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.111+79_111+81delCGC;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.111+79_111+81delCGC;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:AGCG,A:19:18:0:18:1,18:36,528:0.00,59.37:0.00,54.97:0.00,4.41:0.00,1.00:0.00,1.00:0.00,1.00:40,49:29.0,97.9:0,0:0,0:53,33:98,118:0,11:NM_024011.2(CDK11A) c.111+79_111+81delCGC,NM_024011.2(CDK11A) c.111+79_111+81delCGC:0.7,0.7:0.638857,0.638857 1 1654258 . T . . NT END=1656852;NT GT ./. 1 1654379 rs200326357 TAAG T 20 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TAAG/0.3365,T/0.6635;NP=416;PC=0.002;Gene=CDK11B/NM_001291345.1/0;CC=c.-14-111_-14-109delCTT;VC=Intron;Gene=CDK11B/NM_001787.2/0;CC=c.-14-111_-14-109delCTT;VC=Intron;Gene=CDK11B/NM_033486.2/0;CC=c.-14-111_-14-109delCTT;VC=Intron;Gene=CDK11B/NM_033487.2/0;CC=c.-516-111_-516-109delCTT;VC=Intron;Gene=CDK11B/NM_033489.2/1;CC=c.-163-111_-163-109delCTT;VC=Intron;Gene=CDK11B/NM_033490.2/0;CC=c.-522-111_-522-109delCTT;VC=Intron;Gene=CDK11A/NM_001313896/0;CC=c.-13-112_-13-110delCTT;VC=Intron;Gene=CDK11A/NM_001313982/0;CC=c.-13-112_-13-110delCTT;VC=Intron;Gene=CDK11A/NM_024011.2/0;CC=c.-13-112_-13-110delCTT;VC=Intron;Gene=CDK11A/NM_033529.2/1;CC=c.-13-112_-13-110delCTT;VC=Intron;Gene=CDK11A/NR_132739/0;VC=NonCoding;Gene=CDK11A/NR_132740/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:TAAG,T:10:0:0:7:3,7:96,197:0.00,20.37:0.00,0.00:0.00,20.37:0.00,1.00:0.00,0.00:0.00,1.00:40,40:0.0,3.0:0,0:0,0:140,57:4,93:10,32:-,NM_024011.2(CDK11A) c.-13-112_-13-110delCTT:-,0.66:-,NOT_FOUND 1 1656862 . C . . NT END=1658823;NT GT ./. 1 1657021 rs9439499 T C 8 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=42;PC=0.009;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-160A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:11:1:0:0:3,8:89,270:7.53,0.00:-0.07,0.00:7.60,0.00:0.60,0.00:0.52,0.00:0.60,0.00:42,42:40.7,17.0:0,0:0,0:149,97:2,53:1,34:NM_024011.2(CDK11A) c.-108-u1230A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1657078 rs9439500 A G 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.007;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:168:19.18:0.00:19.18:1.00:0.00:1.00:43:52.2:0:0:121:28:10:NM_024011.2(CDK11A) c.-108-u1287T>C,NM_024011.2(CDK11A) c.-108-u1287T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 1658799 . G T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;NP=3;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-1938C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,G,T:32:31:0:0:1,27,4:10,883,123:-0.11,0.00,9.03:-0.31,0.00,7.81:0.20,0.00,1.23:0.00,0.00,0.63:0.00,0.00,0.95:0.00,0.00,0.70:40,60,39:160.0,6.6,30.8:0,0,0:0,0,0:47,57,36:103,94,114:0,29,2:-,NM_024011.2(CDK11A) c.-108-u3008C>A:-,NOT_FOUND:-,NOT_FOUND 1 1658945 rs144604384 T C 103 lc VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-2084A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*4949A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:71:56:0:0:1,33,37:11,1080,1242:-0.06,102.71,0.00:0.04,57.52,0.00:-0.10,45.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,43,45:210.0,38.2,5.0:0,0,0:0,0,0:78,82,91:72,69,53:0,22,28:NM_182838.2(SLC35E2) c.*4949A>G,-:0.27,-:NOT_FOUND,- 1 1660043 rs1546881 T A 97 lc VT=SNV;PN=C;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.7179,A/0.2821;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3182A>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3851A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:125:74:0:1:36,89:1127,2835:97.31,0.00:44.84,0.00:52.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.0,15.9:0,0:0,0:89,75:60,73:39,36:NM_182838.2(SLC35E2) c.*3851A>T,-:0.3,-:NOT_FOUND,- 1 1660110 rs1801781 C A 282 lc VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=C/0.3922,A/0.6078;PC=0.010;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3249G>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3784G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:136:90:0:0:84,52:2812,1508:282.06,0.00:162.77,0.00:119.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.7,7.5:0,0:0,0:55,86:95,64:41,36:NM_182838.2(SLC35E2) c.*3784G>T,-:0.64,-:NOT_FOUND,- 1 1660344 rs2377223 T C 40 lc VT=SNV;PN=G;NN=C;SST=Single;DP=145;DB;DBA=NA;PAF=NA;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3483A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3550A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:145:100:0:0:18,127:554,3876:40.41,0.00:17.98,0.00:22.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:79.7,12.8:0,1:0,0:122,67:25,81:22,33:NM_182838.2(SLC35E2) c.*3550A>G,-:0.07,-:NOT_FOUND,- 1 1660347 rs2377222 A G 32 lc VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=113;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3486T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3547T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,G:145:95:0:0:129,16:4208,465:0.00,32.45:0.00,8.92:0.00,23.53:0.00,1.00:0.00,1.00:0.00,1.00:60,49:12.3,89.9:1,0:0,0:61,109:80,41:34,20:-,NM_182838.2(SLC35E2) c.*3547T>C:-,NOT_FOUND:-,NOT_FOUND 1 1660404 rs1801778 A G 31 lc VT=SNV;PN=A;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=NA;NP=60;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3543T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3490T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C,G:148:94:0:0:133,1,14:4382,10,440:0.00,-0.33,30.63:0.00,-0.13,9.31:0.00,-0.20,21.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,45:6.6,43.0,62.2:0,0,0:0,0,0:57,96,31:93,55,119:29,0,25:-,NM_182838.2(SLC35E2) c.*3490T>C:-,NOT_FOUND:-,NOT_FOUND 1 1660635 rs2377220 T G 578 lc VT=SNV;PN=T;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.2774,G/0.7226;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3774A>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3259A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:149:99:0:0:149:5073:578.17:326.57:251.60:1.00:1.00:1.00:60:52.6:0:0:73:76:35:NM_182838.2(SLC35E2) c.*3259A>C,NM_182838.2(SLC35E2) c.*3259A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 1660726 rs1061884 T C 256 lc VT=SNV;PN=A;NN=A;SST=Single;DP=176;DB;DBA=NA;PAF=T/0.5282,C/0.4718;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3865A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3168A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:176:104:0:0:81,95:2704,2962:256.31,0.00:113.55,0.00:142.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:89.8,25.2:0,0:0,0:67,82:80,66:27,34:NM_182838.2(SLC35E2) c.*3168A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1660735 rs1061883 T C 247 lc VT=SNV;PN=A;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=NA;NP=4;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3874A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3159A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:179:105:0:0:83,96:2616,3051:247.43,0.00:110.92,0.00:136.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.0,22.6:0,0:0,0:77,79:71,69:28,35:NM_182838.2(SLC35E2) c.*3159A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1660812 rs1061881 A G 166 lc VT=SNV;PN=G;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=NA;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-3951T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*3082T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:135:65:0:0:77,58:2591,1782:0.00,165.75:0.00,45.07:0.00,120.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,77.5:0,0:0,0:68,104:77,35:33,30:-,NM_182838.2(SLC35E2) c.*3082T>C:-,0.33:-,NOT_FOUND 1 1660850 . t . . NT END=1661096;NT GT ./. 1 1660978 rs1972183 C A 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.721,A/0.279;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-4117G>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*2916G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:39:25:0:0:10,29:288,846:23.96,0.00:17.90,0.00:6.06,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:48.8,23.2:0,0:0,0:65,71:85,75:13,34:NM_182838.2(SLC35E2) c.*2916G>T,-:0.3,-:NOT_FOUND,- 1 1661282 . a . . NT END=1661521;NT GT ./. 1 1661298 rs1546882 A G 242 nt VT=SNV;PN=C;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=2;PC=0.005;Gene=SLC35E2/NM_001199787.1/1;CC=c.733-4437T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*2596T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:142:62:0:0:61,81:2021,2460:0.00,242.46:0.00,69.77:0.00,172.69:0.00,1.00:0.00,1.00:0.00,1.00:51,50:10.6,39.6:0,0:0,0:89,92:60,58:34,27:-,NM_182838.2(SLC35E2) c.*2596T>C:-,NOT_FOUND:-,NOT_FOUND 1 1661506 rs200238609 TGACA T 48 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=TGACA/0.9407,T/0.05931;NP=128;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+4619_732+4622delTGTC;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*2384_*2387delTGTC;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,TGACA,T:46:23:0:17:1,1,1,26,17:12,8,12,762,526:0.04,-0.13,0.04,0.00,48.17:-0.09,0.03,-0.09,0.00,30.35:0.13,-0.16,0.13,0.00,17.82:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:55,56,3,56,60:56.0,63.0,39.0,11.5,8.8:0,0,0,0,0:0,0,0,0,0:132,133,131,54,66:19,18,20,95,85:0,0,0,28,49:-,NM_182838.2(SLC35E2) c.*2380TGTC[1]:-,0.04:-,NOT_FOUND 1 1661645 rs143810893 C T 50 lc VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+4484G>A;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*2249G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:90:0:0:87,20:2730,631:0.00,50.29:0.00,44.38:0.00,5.91:0.00,1.00:0.00,1.00:0.00,0.99:60,51:20.1,35.0:0,0:0,0:83,37:67,109:34,21:-,NM_182838.2(SLC35E2) c.*2249G>A:-,0.01:-,NOT_FOUND 1 1661704 rs710322 A G 152 lc VT=SNV;PN=A;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=A/0.7212,G/0.2788;PC=0.037;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+4425T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*2190T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:135:107:0:0:84,49,2:2592,1665,20:0.00,151.88,-0.26:0.00,95.58,-0.08:0.00,56.29,-0.18:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,51,50:16.3,39.9,80.0:0,0,0:0,0,0:61,55,96:87,93,54:38,39,14:-,NM_182838.2(SLC35E2) c.*2190T>C:-,0.16:-,NOT_FOUND 1 1661844 rs61777505 G C 134 lc VT=SNV;PN=G;NN=C;SST=Single;DP=197;DB;DBA=NA;PAF=G/0.7246,C/0.2754;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+4285C>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*2050C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:197:133:0:0:48,149:1585,4855:133.94,0.00:78.62,0.00:55.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,57:41.7,9.2:0,0:0,0:91,65:57,79:30,35:NM_182838.2(SLC35E2) c.*2050C>G,-:0.3,-:NOT_FOUND,- 1 1662395 . c . . NT END=1662821;NT GT ./. 1 1662428 rs2281171 A G 189 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.3003,G/0.6997;PC=0.002;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+3701T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*1466T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:G:53:17:0:0:53:1642:189.39:47.31:142.08:1.00:1.00:1.00:60:39.2:0:0:103:44:32:NM_182838.2(SLC35E2) c.*1466T>C,NM_182838.2(SLC35E2) c.*1466T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1662814 rs61777506 T C 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.3361,C/0.6639;PC=0.002;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+3315A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*1080A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:23:0:0:24:713:82.65:73.61:9.04:1.00:1.00:1.00:60:62.0:1:0:62:80:38:NM_182838.2(SLC35E2) c.*1080A>G,NM_182838.2(SLC35E2) c.*1080A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 1662819 rs70937186 C CAA 36 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=2;NP=2;NP=4;PC=0.011;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+3309_732+3310insTT;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*1074_*1075insTT;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,C,CAA,D:19:24:16:2:1,6,11,1:34,160,516,54:2.37,0.00,35.52,1.78:-0.11,0.00,35.52,1.78:2.48,0.00,0.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.63,0.00:60,60,60,60:137.0,79.5,65.1,140.0:1,0,5,1:0,0,0,0:64,105,48,52:58,31,103,98:0,39,32,44:-,NM_182838.2(SLC35E2) c.*1058T[19]:-,NOT_FOUND:-,NOT_FOUND 1 1662895 rs61777507 A G 197 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.3001,G/0.6999;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+3234T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*999T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C,G:54:36:0:0:2,52:36,1728:1.88,196.65:0.42,93.63:1.46,103.02:0.00,1.00:0.00,1.00:0.00,1.00:60,70:57.5,46.1:0,0:0,0:78,64:55,82:29,17:NM_182838.2(SLC35E2) c.*999T>C,NM_182838.2(SLC35E2) c.*999T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1663035 . C . . NT END=1663674;NT GT ./. 1 1663452 rs35158882 G A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6987,A/0.3013,T/.;PC=0.056;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2677C>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*442C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:4:0:0:3,1:73,35:7.72,0.00:7.72,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:102.0,0.0:0,0:0,0:46,37:105,114:17,0:NM_182838.2(SLC35E2) c.*442C>T,-:0.33,-:NOT_FOUND,- 1 1663605 rs66653340 A G 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2997,G/0.7003;PC=0.002;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2524T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*289T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:478:55.26:55.26:0.00:1.00:1.00:0.00:60:40.6:0:0:59:90:22:NM_182838.2(SLC35E2) c.*289T>C,NM_182838.2(SLC35E2) c.*289T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1663680 . C CA 10 rn VT=INS;SST=Single;DP=30;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2448_732+2449insT;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*213_*214insT;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,CA:30:28:4:1:26,4:816,131:0.00,9.90:0.00,10.14:0.00,-0.25:0.00,0.64:0.00,0.94:0.00,0.55:60,60:40.2,44.0:0,0:0,0:38,40:110,110:34,35:-,NM_182838.2(SLC35E2) c.*213dupT:-,NOT_FOUND:-,NOT_FOUND 1 1663696 rs370896065 G GT 12 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9988,C/0.001198;NP=1;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2432dupA;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*197dupA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:G,T,GT,D:35:32:7:1:26,3,5,1:821,50,210,34:0.00,2.44,11.81,2.00:0.00,1.63,7.35,2.03:0.00,0.82,4.46,-0.03:0.00,0.00,0.77,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.67,0.00:60,60,60,60:50.5,61.7,58.8,0.0:0,1,2,0:0,0,0,0:22,84,32,78:128,67,97,72:17,40,21,0:-,NM_182838.2(SLC35E2) c.*197dupA:-,NOT_FOUND:-,NOT_FOUND 1 1663831 rs3817856 C T 129 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.7141,T/0.2859;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2298G>A;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*63G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:60:0:0:31,42:1013,1307:0.00,129.11:0.00,72.45:0.00,56.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.2,45.0:0,0:0,0:61,63:75,80:37,33:-,NM_182838.2(SLC35E2) c.*63G>A:-,0.33:-,0.400616 1 1663851 rs2294486 G C 93 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.6989,A/.,C/0.3011;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2278C>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*43C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:77:58:0:0:29,48:1011,1534:92.81,0.00:72.56,0.00:20.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.2,42.5:0,0:0,0:62,67:75,81:31,41:NM_182838.2(SLC35E2) c.*43C>G,-:0.33,-:0.305044,- 1 1663861 rs2294487 G A 102 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.6989,A/0.3011;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2268C>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.*33C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:85:58:0:0:34,1,50:1104,5,1307:102.20,-0.23,0.00:73.42,-0.12,0.00:28.78,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:67.1,78.0,41.1:0,0,0:0,0,0:60,0,64:83,151,83:31,0,32:NM_182838.2(SLC35E2) c.*33C>T,-:0.33,-:0.306011,- 1 1663963 . C . . NT END=1666128;NT GT ./. 1 1664019 rs2294488 T C 264 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.3131,C/0.6869;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2110A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.733-57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:75:37:0:0:74,1:2307,10:263.91,0.00:86.74,0.00:177.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,41.0:0,0:0,0:95,54:54,96:22,0:NM_182838.2(SLC35E2) c.733-57A>G,NM_182838.2(SLC35E2) c.733-57A>G:0.74,0.74:0.798153,0.798153 1 1664124 rs2294489 T C 92 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4091,C/0.5909;Gene=SLC35E2/NM_001199787.1/1;CC=c.732+2005A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.733-162A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:2:0:0:26:793:91.63:4.76:86.87:1.00:1.00:1.00:60:58.2:0:0:96:50:37:NM_182838.2(SLC35E2) c.733-162A>G,NM_182838.2(SLC35E2) c.733-162A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 1666175 rs61777509 C T 38 lc VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=NA;PC=0.999;Gene=SLC35E2/NM_001199787.1/1;CC=c.686G>A;ProtCh=p.R229H;VC=Missense;Gene=SLC35E2/NM_182838.2/0;CC=c.686G>A;ProtCh=p.R229H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:46:0:0:66,14:1932,474:0.00,38.01:0.00,18.94:0.00,19.07:0.00,1.00:0.00,1.00:0.00,1.00:43,43:21.0,36.1:0,0:0,0:82,48:67,99:35,15:-,NM_182838.2(SLC35E2) c.686G>A (p.Arg229His):-,0.11:-,NOT_FOUND 1 1666251 rs77655487 G A 101 lc VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=707;PC=0.206;Gene=SLC35E2/NM_001199787.1/1;CC=c.610C>T;ProtCh=p.R204W;VC=Missense;Gene=SLC35E2/NM_182838.2/0;CC=c.610C>T;ProtCh=p.R204W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:70:42:0:0:36,1,32,1:1043,12,1095,10:100.90,0.01,0.00,-0.06:62.90,-0.06,0.00,-0.06:38.00,0.07,0.00,-0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:55,27,47,43:47.7,40.0,20.7,195.0:0,0,0,0:0,0,0,0:74,91,101,80:76,60,29,71:30,0,25,0:NM_182838.2(SLC35E2) c.610C>T (p.Arg204Trp),-:NOT_FOUND,-:NOT_FOUND,- 1 1666275 . C . . NT END=1669088;NT GT ./. 1 1666303 rs114928632 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=SLC35E2/NM_001199787.1/1;CC=c.587-29A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.587-29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:C,T:52:17:0:0:6,46:192,1466:14.00,0.00:0.96,0.00:13.03,0.00:0.84,0.00:0.79,0.00:0.98,0.00:42,60:46.5,53.9:0,0:0,0:128,77:6,62:18,39:NM_182838.2(SLC35E2) c.587-29A>G,-:0.01,-:NOT_FOUND,- 1 1666338 rs2072924 G A 120 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4149,A/0.5851;Gene=SLC35E2/NM_001199787.1/1;CC=c.587-64C>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.587-64C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A,G:38:6:0:0:37,1:1043,12:119.83,0.00:19.03,0.00:100.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,55:57.6,59.0:0,0:0,0:78,125:73,26:31,0:NM_182838.2(SLC35E2) c.587-64C>T,NM_182838.2(SLC35E2) c.587-64C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 1666342 rs76084492 A G 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.7147,G/0.2853;NP=185;Gene=SLC35E2/NM_001199787.1/1;CC=c.587-68T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.587-68T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:4:0:0:24,11:668,367:0.00,32.49:0.00,-0.57:0.00,33.07:0.00,1.00:0.00,0.78:0.00,1.00:60,51:52.7,66.5:0,0:0,0:108,63:42,87:27,10:-,NM_182838.2(SLC35E2) c.587-68T>C:-,NOT_FOUND:-,NOT_FOUND 1 1666447 rs386366085 G GGTTT 36 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4748,GGTTT/0.3083,GTTTT/0.2169,GTTTTT/.;DB;DBA=NA;PAF=G/0.4748,GTTTT/0.2169;DB;DBA=NA;PAF=G/0.4748,GTTTT/0.2169;NP=51;NP=6;Gene=SLC35E2/NM_001199787.1/1;CC=c.587-174_587-173insAAAC;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.587-174_587-173insAAAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:G,GGTTT:15:0:14:0:2,13:58,335:0.00,36.14:0.00,0.00:0.00,36.14:0.00,1.00:0.00,0.00:0.00,1.00:51,60:87.0,13.5:1,1:0,0:146,78:4,72:2,24:-,NM_182838.2(SLC35E2) c.587-174_587-173insAAAC:-,NOT_FOUND:-,NOT_FOUND 1 1668943 rs28537345 A C 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6733,C/0.3267;PC=0.003;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+817T>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+817T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:16:16:0:0:9,7:291,219:0.00,20.48:0.00,20.48:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:43,42:11.1,37.4:1,0:0,0:41,44:110,107:21,21:-,NM_182838.2(SLC35E2) c.586+817T>G:-,0.35:-,NOT_FOUND 1 1669142 rs200672606 A C 130 lc VT=SNV;PN=C;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.6737,C/0.3263;NP=411;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+618T>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+618T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:100:70:0:0:59,41:1876,1395:0.00,129.66:0.00,56.20:0.00,73.46:0.00,1.00:0.00,1.00:0.00,1.00:60,52:16.9,82.9:0,0:0,0:74,76:72,74:29,32:-,NM_182838.2(SLC35E2) c.586+618T>G:-,NOT_FOUND:-,NOT_FOUND 1 1669143 rs201524780 C T 123 lc VT=SNV;PN=A;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.7005,T/0.2995;NP=2;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+617G>A;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+617G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:71:0:0:61,40:2023,1332:0.00,122.83:0.00,58.17:0.00,64.65:0.00,1.00:0.00,1.00:0.00,1.00:60,52:19.7,83.0:0,0:0,0:70,80:75,67:29,34:-,NM_182838.2(SLC35E2) c.586+617G>A:-,NOT_FOUND:-,NOT_FOUND 1 1669228 rs11485870 T C 278 lc VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.2133,C/0.7867;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+532A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+532A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:81:38:0:0:81:2400:278.32:100.62:177.70:1.00:1.00:1.00:60:49.2:0:0:100:50:31:NM_182838.2(SLC35E2) c.586+532A>G,NM_182838.2(SLC35E2) c.586+532A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 1669249 . C . . NT END=1669759;NT GT ./. 1 1669566 rs138660586 C T 15 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+194G>A;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,T:28:27:0:0:21,7:671,180:0.00,14.51:0.00,14.63:0.00,-0.12:0.00,0.96:0.00,1.00:0.00,0.50:60,15:7.7,39.4:0,0:0,0:29,54:119,97:17,7:-,NM_182838.2(SLC35E2) c.586+194G>A:-,0.11:-,NOT_FOUND 1 1669646 rs201497363 ACT A 70 nt VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=ACT/0.7069,A/0.2931;NP=92;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+112_586+113delAG;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+112_586+113delAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACT,A:68:68:0:28:40,28:1287,762:0.00,69.51:0.00,64.86:0.00,4.66:0.00,1.00:0.00,1.00:0.00,0.92:56,52:31.2,19.6:0,0:0,0:44,51:106,99:31,24:-,NM_182838.2(SLC35E2) c.586+112_586+113delAG:-,0.3:-,NOT_FOUND 1 1669734 rs61777512 G T 218 nt VT=SNV;PN=G;NN=A;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.7117,A/.,T/0.2883;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+26C>A;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+26C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:131:117:0:0:1,56,74:8,1781,2211:-0.15,0.00,217.65:-0.14,0.00,158.59:-0.01,0.00,59.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:49,54,60:71.0,35.2,39.8:0,0,0:0,0,0:48,49,60:103,93,87:0,29,28:-,NM_182838.2(SLC35E2) c.586+26C>A:-,0.33:-,0.385216 1 1669748 rs115554296 A G 195 nt VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.6953,C/.,G/0.3047;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.586+12T>C;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.586+12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:153:133:0:0:86,67:2832,2090:0.00,195.40:0.00,124.83:0.00,70.57:0.00,1.00:0.00,1.00:0.00,1.00:60,52:33.0,40.6:0,0:0,0:66,52:82,95:32,31:-,NM_182838.2(SLC35E2) c.586+12T>C:-,0.32:-,0.298288 1 1669888 . C . . NT END=1670360;NT GT ./. 1 1669964 rs369037660 G A 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.7073,A/0.2927;NP=281;PC=0.001;Gene=SLC35E2/NM_001199787.1/1;CC=c.459-77C>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.459-77C>T;VC=Intron;DM=SLC35E2/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:41:1:0:0:15,2,24:412,20,823:37.02,0.20,0.00:-0.20,-0.02,0.00:37.22,0.22,0.00:1.00,0.00,0.00:0.58,0.00,0.00:1.00,0.00,0.00:40,40,40:38.5,21.0,26.0:0,0,0:0,0,0:104,66,93:47,83,57:23,35,31:NM_182838.2(SLC35E2) c.459-77C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1670036 rs373104886 C A 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7204,A/0.2796;NP=100;Gene=SLC35E2/NM_001199787.1/1;CC=c.459-149G>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.459-149G>T;VC=Intron;DM=SLC35E2/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,C:13:2:0:0:8,5:261,137:26.17,0.00:3.27,0.00:22.90,0.00:1.00,0.00:0.88,0.00:1.00,0.00:40,40:61.6,64.2:0,0:0,0:122,103:29,45:20,33:NM_182838.2(SLC35E2) c.459-149G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 1670045 rs200217868 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7202,T/0.2798;NP=80;Gene=SLC35E2/NM_001199787.1/1;CC=c.459-158G>A;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.459-158G>A;VC=Intron;DM=SLC35E2/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:12:3:0:0:5,7:132,228:0.00,22.61:0.00,5.80:0.00,16.80:0.00,0.99:0.00,0.93:0.00,1.00:40,40:41.0,86.7:0,0:0,0:112,109:36,42:33,15:-,NM_182838.2(SLC35E2) c.459-158G>A:-,NOT_FOUND:-,NOT_FOUND 1 1670432 . T C 75 lc VT=SNV;PN=A;NN=A;SST=Single;DP=328;NP=96;PC=0.926;Gene=SLC35E2/NM_001199787.1/1;CC=c.387A>G;ProtCh=p.L129=;VC=Silent;Gene=SLC35E2/NM_182838.2/0;CC=c.387A>G;ProtCh=p.L129=;VC=Silent;DM=SLC35E2/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:328:241:0:0:32,296:1048,9305:74.58,0.00:69.27,0.00:5.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,52:42.9,9.5:0,0:0,0:38,84:113,64:29,34:NM_182838.2(SLC35E2) c.387A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 1670497 . C . . NT END=1670674;NT GT ./. 1 1670570 rs61777514 T C 288 nt VT=SNV;PN=G;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=NA;NP=2272;Gene=SLC35E2/NM_001199787.1/1;CC=c.323-74A>G;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.323-74A>G;VC=Intron;DM=SLC35E2/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:176:64:0:0:96,80:2946,2395:287.58,0.00:19.49,0.00:268.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:40.7,12.2:0,0:0,0:107,92:43,52:30,38:NM_182838.2(SLC35E2) c.323-74A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1670958 rs146637450 C G 164 sb,lc VT=SNV;PN=C;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=274;Gene=SLC35E2/NM_001199787.1/1;CC=c.39G>C;ProtCh=p.L13=;VC=Silent;Gene=SLC35E2/NM_182838.2/0;CC=c.39G>C;ProtCh=p.L13=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:C,G:55:50:0:0:4,51:126,1458:0.00,163.59:0.00,164.28:0.00,-0.69:0.00,1.00:0.00,1.00:0.00,1.00:40,27:13.5,44.5:0,0:0,0:72,79:76,72:15,40:NM_182838.2(SLC35E2) c.39G>C (p.(=)),NM_182838.2(SLC35E2) c.39G>C (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1670997 . G . . NT END=1684342;NT GT ./. 1 1671354 rs140794675 G A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=28;PC=0.031;Gene=SLC35E2/NM_001199787.1/1;CC=c.-147-211C>T;VC=Intron;Gene=SLC35E2/NM_182838.2/0;CC=c.-147-211C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:179:21.19:0.00:21.19:1.00:0.00:1.00:27:30.9:0:0:56:95:39:NM_182838.2(SLC35E2) c.-147-211C>T,NM_182838.2(SLC35E2) c.-147-211C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1677556 rs16824474 G C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=80 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:33:2:0:0:8,25:232,772:19.09,0.00:-0.12,0.00:19.21,0.00:0.98,0.00:0.52,0.00:0.98,0.00:49,60:81.0,31.6:0,0:0,0:44,69:105,58:10,36:NM_182838.2(SLC35E2) c.-423-u118C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 1677614 rs569419804 GT G 10 idl,rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=GT/0.3836,G/0.6164;NP=3;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:GT,T,I,G:20:0:6:7:12,1,3,4:311,12,140,182:0.00,0.23,5.33,10.43:0.00,0.00,0.00,0.00:0.00,0.23,5.33,10.43:0.00,0.00,0.00,0.67:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.67:60,60,60,53:67.8,43.0,84.0,24.8:0,0,4,2:0,0,0,0:101,56,97,100:45,95,52,46:10,0,22,12:-,NM_182838.2(SLC35E2) c.-423-u177delA:-,NOT_FOUND:-,NOT_FOUND 1 1684169 rs7796 C G 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6737,G/0.3263;PC=0.366;Gene=NADK/NM_001198995.1/0;CC=c.*174G>C;VC=3UTR;Gene=NADK/NM_023018.4/0;CC=c.*174G>C;VC=3UTR;Gene=NADK/NM_001198993.1/0;CC=c.*174G>C;VC=3UTR;Gene=NADK/NM_001198994.1/1;CC=c.*174G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:20:0:0:11,9:357,307:0.00,29.02:0.00,29.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.3,37.9:0,0:0,0:61,21:90,130:44,14:-,NM_001198994.1(NADK) c.*174G>C:-,0.36:-,NOT_FOUND 1 1684347 rs71578334 C CCCT 103 rn VT=INS;SST=Single;DP=124;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=476;PC=0.408;Gene=NADK/NM_001198995.1/0;CC=c.1240_1241insAGG;ProtCh=p.E413_G414insE;VC=InFrameIns;Gene=NADK/NM_023018.4/0;CC=c.1336_1337insAGG;ProtCh=p.E445_G446insE;VC=InFrameIns;Gene=NADK/NM_001198993.1/0;CC=c.1336_1337insAGG;ProtCh=p.E445_G446insE;VC=InFrameIns;Gene=NADK/NM_001198994.1/1;CC=c.1771_1772insAGG;ProtCh=p.E590_G591insE;VC=InFrameIns;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCCT,D:124:94:39:5:80,39,5:2450,1173,124:0.00,103.18,7.06:0.00,64.49,7.73:0.00,38.69,-0.67:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.4,13.6,14.0:0,0,0:0,0,0:64,37,52:73,109,99:39,24,34:-,NM_001198994.1(NADK) c.1769_1771dupAGG (p.Glu590dup):-,NOT_FOUND:-,NOT_FOUND 1 1684472 rs7407 C T 152 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.6603,T/0.3397;Gene=NADK/NM_001198995.1/0;CC=c.1116G>A;ProtCh=p.P372=;VC=Silent;Gene=NADK/NM_023018.4/0;CC=c.1212G>A;ProtCh=p.P404=;VC=Silent;Gene=NADK/NM_001198993.1/0;CC=c.1212G>A;ProtCh=p.P404=;VC=Silent;Gene=NADK/NM_001198994.1/1;CC=c.1647G>A;ProtCh=p.P549=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:112:66:0:0:60,52:1903,1606:0.00,151.78:0.00,50.38:0.00,101.40:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.8,43.3:0,0:0,0:86,78:60,63:35,53:-,NM_001198994.1(NADK) c.1647G>A (p.(=)):-,0.37:-,0.381194 1 1684500 . C . . NT END=1685005;NT GT ./. 1 1684758 rs2072926 G A 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6737,A/0.3263;Gene=NADK/NM_001198995.1/0;CC=c.1088+248C>T;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.1184+248C>T;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.1184+248C>T;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1619+248C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,G:5:1:0:0:4,1:138,25:14.62,0.00:3.78,0.00:10.84,0.00:0.96,0.00:0.87,0.00:1.00,0.00:60,60:54.5,26.0:0,0:0,0:81,52:68,97:56,0:NM_001198994.1(NADK) c.1619+248C>T,-:0.36,-:NOT_FOUND,- 1 1684800 rs2072927 G A 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6739,A/0.3261;PC=0.042;Gene=NADK/NM_001198995.1/0;CC=c.1088+206C>T;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.1184+206C>T;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.1184+206C>T;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1619+206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:4:2:0:0:3,1:92,30:9.65,0.00:6.40,0.00:3.25,0.00:0.85,0.00:0.95,0.00:0.95,0.00:60,60:54.0,26.0:0,0:0,0:57,94:94,55:18,0:NM_001198994.1(NADK) c.1619+206C>T,-:0.36,-:NOT_FOUND,- 1 1685089 . C . . NT END=1685489;NT GT ./. 1 1685213 rs2072928 C G 61 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2939,G/0.7061;Gene=NADK/NM_001198995.1/0;CC=c.1006-125G>C;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.1102-125G>C;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.1102-125G>C;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1537-125G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:4:0:0:16:531:60.72:13.60:47.12:1.00:1.00:1.00:60:44.0:0:0:93:58:19:NM_001198994.1(NADK) c.1537-125G>C,NM_001198994.1(NADK) c.1537-125G>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 1685648 . C . . NT END=1685722;NT GT ./. 1 1685823 . C . . NT END=1685982;NT GT ./. 1 1685921 rs374697661 TCCCTGGGACCGAAGTCGCCCCA T 114 nt VT=DEL;SST=Single;DP=85;DB;DBA=NA;PAF=TCCCTGGGACCGAAGTCGCCCCA/0.6655,T/0.3345;DB;DBA=NA;PAF=TCCCTGGGACCGAAGTCGCCCCA/0.6655,T/0.3345;NP=1581;Gene=NADK/NM_001198995.1/0;CC=c.747+40_747+61delTGGGGCGACTTCGGTCCCAGGG;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.843+40_843+61delTGGGGCGACTTCGGTCCCAGGG;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.843+40_843+61delTGGGGCGACTTCGGTCCCAGGG;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1278+40_1278+61delTGGGGCGACTTCGGTCCCAGGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCCCTGGGACCGAAGTCGCCCCA,T:85:60:0:38:47,38:1462,1212:0.00,113.99:0.00,75.96:0.00,38.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.7,7.3:0,0:0,0:66,59:81,91:35,23:-,NM_001198994.1(NADK) c.1278+40_1278+61delTGGGGCGACTTCGGTCCCAGGG:-,0.36:-,NOT_FOUND 1 1686040 rs4751 G T 140 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=G/0.7506,C/.,T/0.2494;PC=0.041;Gene=NADK/NM_001198995.1/0;CC=c.690C>A;ProtCh=p.N230K;VC=Missense;Gene=NADK/NM_023018.4/0;CC=c.786C>A;ProtCh=p.N262K;VC=Missense;Gene=NADK/NM_001198993.1/0;CC=c.786C>A;ProtCh=p.N262K;VC=Missense;Gene=NADK/NM_001198994.1/1;CC=c.1221C>A;ProtCh=p.N407K;VC=Missense;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:150:99:0:0:1,1,99,49:34,9,3022,1578:1.43,-0.24,0.00,140.41:1.57,-0.16,0.00,61.99:-0.14,-0.09,0.00,78.42:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:34.0,83.0,5.4,39.8:0,0,0,0:0,0,0,0:28,111,84,52:123,24,61,87:0,0,35,35:-,NM_001198994.1(NADK) c.1221C>A (p.Asn407Lys):-,0.28:-,0.317546 1 1686138 . C . . NT END=1686812;NT GT ./. 1 1686916 . C . . NT END=1687696;NT GT ./. 1 1686943 rs2072929 T C 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.6468,C/0.3532;PC=0.002;Gene=NADK/NM_001198995.1/0;CC=c.490-28A>G;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.586-28A>G;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.586-28A>G;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1021-28A>G;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:24:0:0:29,22:953,678:94.03,0.00:31.36,0.00:62.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.8,16.8:0,0:0,0:103,88:47,32:18,28:NM_001198994.1(NADK) c.1021-28A>G,-:0.38,-:0.419191,- 1 1686962 rs2076327 C T 95 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.6581,T/0.3419;Gene=NADK/NM_001198995.1/0;CC=c.490-47G>A;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.586-47G>A;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.586-47G>A;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1021-47G>A;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:17:0:0:16,27:430,940:0.00,94.68:0.00,25.64:0.00,69.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,69.6:0,0:0,0:105,112:44,39:21,21:-,NM_001198994.1(NADK) c.1021-47G>A:-,0.36:-,0.404506 1 1687152 rs4648815 G A 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6995,A/0.3005;Gene=NADK/NM_001198995.1/0;CC=c.490-237C>T;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.586-237C>T;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.586-237C>T;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1021-237C>T;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:4:0:0:0:2,2:72,68:6.95,0.00:0.00,0.00:6.95,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:40.0,0.0:0,0:0,0:55,91:95,59:4,17:NM_001198994.1(NADK) c.1021-237C>T,-:0.33,-:NOT_FOUND,- 1 1687482 rs2076328 G T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6741,T/0.3259;Gene=NADK/NM_001198995.1/0;CC=c.489+215C>A;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.585+215C>A;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.585+215C>A;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1020+215C>A;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:G,T:9:9:0:0:5,4:157,108:0.00,10.00:0.00,10.13:0.00,-0.13:0.00,0.85:0.00,0.85:0.00,0.63:60,60:21.8,77.0:0,0:0,0:103,57:48,81:4,22:-,NM_001198994.1(NADK) c.1020+215C>A:-,0.36:-,NOT_FOUND 1 1687625 rs34306661 T C 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7159,C/0.2841;Gene=NADK/NM_001198995.1/0;CC=c.489+72A>G;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.585+72A>G;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.585+72A>G;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.1020+72A>G;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:32:0:0:19,17:619,550:60.12,0.00:54.77,0.00:5.35,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:46.4,1.2:0,0:0,0:66,28:83,106:30,21:NM_001198994.1(NADK) c.1020+72A>G,-:0.31,-:NOT_FOUND,- 1 1687783 . C . . NT END=1687941;NT GT ./. 1 1688097 . C . . NT END=1688545;NT GT ./. 1 1688192 rs2281173 A G 174 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.3734,G/0.6266;Gene=NADK/NM_001198995.1/0;CC=c.298-145T>C;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.394-145T>C;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.394-145T>C;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.780-96T>C;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:45:14:0:0:45:1525:173.96:33.29:140.67:1.00:1.00:1.00:60:37.8:0:0:113:38:20:NM_001198994.1(NADK) c.780-96T>C,NM_001198994.1(NADK) c.780-96T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 1688469 rs4648623 C G 96 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.2863,G/0.7137;Gene=NADK/NM_001198995.1/0;CC=c.297+151G>C;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.393+151G>C;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.393+151G>C;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.779+77G>C;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:26:0:0:28:829:96.17:77.64:18.53:1.00:1.00:1.00:60:57.1:0:0:32:112:14:NM_001198994.1(NADK) c.779+77G>C,NM_001198994.1(NADK) c.779+77G>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 1688513 rs4648624 G T 68 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.727,T/0.273;Gene=NADK/NM_001198995.1/0;CC=c.297+107C>A;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.393+107C>A;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.393+107C>A;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.779+33C>A;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:37:0:0:20,22:650,706:0.00,68.45:0.00,48.89:0.00,19.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.3,72.0:0,0:0,0:59,47:76,87:19,25:-,NM_001198994.1(NADK) c.779+33C>A:-,0.3:-,NOT_FOUND 1 1688750 . C . . NT END=1689803;NT GT ./. 1 1689762 rs2235537 T C 110 nt VT=SNV;PN=T;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.6404,C/0.3596;Gene=NADK/NM_001198995.1/0;CC=c.167+42A>G;VC=Intron;Gene=NADK/NM_023018.4/0;CC=c.264-1013A>G;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.264-1013A>G;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.575+778A>G;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:85:76:0:0:36,49:1179,1581:109.91,0.00:90.64,0.00:19.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.4,3.7:0,0:0,0:36,51:110,96:18,28:NM_001198994.1(NADK) c.575+778A>G,-:0.38,-:0.408092,- 1 1690082 . A . . NT END=1690539;NT GT ./. 1 1690126 rs79655042 A AAC 200 nt VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.2855,AAC/0.7145;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2855,AAC/0.7145;NP=283;PC=0.002;Gene=NADK/NM_023018.4/0;CC=c.264-1379_264-1378dupGT;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.264-1379_264-1378dupGT;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.575+412_575+413dupGT;VC=Intron;DM=NADK/NAD_kinase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A,C,AAC:67:17:60:0:5,3,59:128,87,1827:0.00,5.98,200.31:0.00,0.00,42.08:0.00,5.98,158.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:2.0,29.0,6.5:0,2,1:0,0,0:143,22,96:4,128,53:1,20,24:NM_001198994.1(NADK) c.575+413_575+414insGT,NM_001198994.1(NADK) c.575+413_575+414insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 1690683 . C . . NT END=1691172;NT GT ./. 1 1690793 rs2235538 G A 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.6745,A/0.3255;Gene=NADK/NM_023018.4/0;CC=c.264-2044C>T;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.264-2044C>T;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.433-111C>T;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:12:0:0:28,30:911,852:87.06,0.00:17.72,0.00:69.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.9,24.7:0,0:0,0:114,114:36,29:20,31:NM_001198994.1(NADK) c.433-111C>T,-:0.36,-:NOT_FOUND,- 1 1691050 rs35672141 C T 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6569,T/0.3431;PC=0.001;Gene=NADK/NM_023018.4/0;CC=c.264-2301G>A;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.264-2301G>A;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.432+123G>A;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:25:0:0:13,14:396,471:0.00,45.67:0.00,46.30:0.00,-0.63:0.00,1.00:0.00,1.00:0.00,0.81:60,60:28.8,38.9:0,0:0,0:62,38:87,113:53,28:-,NM_001198994.1(NADK) c.432+123G>A:-,0.38:-,NOT_FOUND 1 1691342 . C . . NT END=1693390;NT GT ./. 1 1693475 . C . . NT END=1696666;NT GT ./. 1 1696659 rs5021859 A G 337 nt VT=SNV;PN=C;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.2588,G/0.7412;PC=0.023;Gene=NADK/NM_023018.4/0;CC=c.179+8T>C;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.179+8T>C;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.179+8T>C;VC=Intron;DM=NADK/NAD_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:80:0:0:98:2908:337.00:224.22:112.78:1.00:1.00:1.00:60:36.7:0:0:43:106:23:NM_001198994.1(NADK) c.179+8T>C,NM_001198994.1(NADK) c.179+8T>C:0.79,0.79:0.827157,0.827157 1 1696846 . T . . NT END=1718769;NT GT ./. 1 1705115 rs527695220 TTGTG T 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;PC=0.042;Gene=NADK/NM_023018.4/0;CC=c.-41+4609_-41+4612delCACA;VC=Intron;Gene=NADK/NM_001198993.1/0;CC=c.-41+5066_-41+5069delCACA;VC=Intron;Gene=NADK/NM_001198994.1/1;CC=c.-41+6225_-41+6228delCACA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TTGTG,T:3:4:0:4:1,2:33,121:0.00,6.64:0.00,5.01:0.00,1.63:0.00,0.46:0.00,0.87:0.00,0.80:60,60:12.0,234.5:0,2:0,0:38,32:91,118:0,9:-,NM_001198994.1(NADK) c.-41+6225_-41+6228delCACA:-,NOT_FOUND:-,NOT_FOUND 1 1718877 . C . . NT END=1720491;NT GT ./. 1 1720709 . C . . NT END=1721833;NT GT ./. 1 1722036 . C . . NT END=1724683;NT GT ./. 1 1724503 rs77240531 C CA 16 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;PC=0.001;Gene=GNB1/NM_001282538.1/0;CC=c.197+180_197+181insT;VC=Intron;Gene=GNB1/NM_001282539.1/0;CC=c.497+180_497+181insT;VC=Intron;Gene=GNB1/NM_002074.4/1;CC=c.497+180_497+181insT;VC=Intron;DM=GNB1/WD40;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CA,D:7:7:5:1:1,5,1:31,147,29:0.00,15.81,2.47:0.00,15.81,2.47:0.00,0.00,0.00:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.00,0.00:60,60,60:0.0,15.0,21.0:0,0,0:0,0,0:147,62,21:3,89,130:0,24,0:-,NM_002074.3(GNB1) c.497+180_497+181insT:-,NOT_FOUND:-,NOT_FOUND 1 1724751 . C . . NT END=1735857;NT GT ./. 1 1736021 . C . . NT END=1737913;NT GT ./. 1 1737895 rs77354509 G A 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9688,A/0.03115;PC=0.671;Gene=GNB1/NM_001282538.1/0;CC=c.-34+19C>T;VC=Intron;Gene=GNB1/NM_001282539.1/0;CC=c.267+19C>T;VC=Intron;Gene=GNB1/NM_002074.4/1;CC=c.267+19C>T;VC=Intron;DM=GNB1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:33:0:0:12,24:408,779:36.57,0.00:23.84,0.00:12.73,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:70.1,0.5:0,0:0,0:39,44:111,105:15,36:NM_002074.3(GNB1) c.267+19C>T,-:0.05,-:0.076888,- 1 1737900 rs17363334 C T 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9651,T/0.03494;Gene=GNB1/NM_001282538.1/0;CC=c.-34+14G>A;VC=Intron;Gene=GNB1/NM_001282539.1/0;CC=c.267+14G>A;VC=Intron;Gene=GNB1/NM_002074.4/1;CC=c.267+14G>A;VC=Intron;DM=GNB1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:32:0:0:24,13:800,431:0.00,38.89:0.00,26.42:0.00,12.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.5,66.6:0,0:0,0:51,44:93,107:39,24:-,NM_002074.3(GNB1) c.267+14G>A:-,0.06:-,0.077041 1 1737978 . C . . NT END=1747194;NT GT ./. 1 1747302 . C . . NT END=1749275;NT GT ./. 1 1749315 . C . . NT END=1756835;NT GT ./. 1 1756893 . C . . NT END=1846719;NT GT ./. 1 1846582 rs2748987 A G 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.1562,G/0.8438;Gene=CALML6/NM_138705.2/1;CC=c.-138A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:22:0:0:8,14:260,415:0.00,41.83:0.00,41.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.4,39.4:0,0:0,0:15,48:136,102:10,34:-,NM_138705.2(CALML6) c.-138A>G:-,0.84:-,NOT_FOUND 1 1846747 . G . . NT END=1846775;NT GT ./. 1 1846765 rs2247560 G A 194 nt VT=SNV;PN=G;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.6434,A/0.3566;Gene=CALML6/NM_138705.2/1;CC=c.27+19G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:105:73:0:0:59,46:1970,1450:193.89,0.00:87.33,0.00:106.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,6.6:0,0:0,0:69,72:72,68:46,34:NM_138705.2(CALML6) c.27+19G>A,-:0.41,-:0.365663,- 1 1846813 . G . . NT END=1847123;NT GT ./. 1 1847175 . G . . NT END=1847879;NT GT ./. 1 1847856 rs2748986 G T 128 nt VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.4265,T/0.5735;Gene=CALML6/NM_138705.2/1;CC=c.79-24G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:96:83:0:0:54,42:1763,1366:0.00,128.07:0.00,85.70:0.00,42.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,36.4:0,0:0,0:57,41:92,106:26,26:-,NM_138705.2(CALML6) c.79-24G>T:-,0.54:-,0.530354 1 1848055 . G . . NT END=1848190;NT GT ./. 1 1848109 rs2803296 G C 182 nt VT=SNV;PN=T;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.4145,C/0.5855;PC=0.001;Gene=CALML6/NM_138705.2/1;CC=c.253+55G>C;VC=Intron;DM=CALML6/EF-hand_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:107:69:0:0:2,58,46,1:17,1857,1455,10:-0.14,182.30,0.00,-0.09:-0.20,101.11,0.00,-0.09:0.06,81.19,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:112.5,59.9,25.5,154.0:0,0,0,0:0,0,0,0:51,65,65,107:85,84,79,44:10,39,33,0:NM_138705.2(CALML6) c.253+55G>C,-:0.55,-:NOT_FOUND,- 1 1848336 . G . . NT END=1848412;NT GT ./. 1 1848514 . G . . NT END=1848585;NT GT ./. 1 1848633 . G . . NT END=1849320;NT GT ./. 1 1848734 rs941532 A G 157 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.01358,G/0.9864 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:1:0:0:42:1370:157.01:2.04:154.97:1.00:1.00:1.00:60:42.2:0:0:106:45:25:chr1 g.1848733A>G (intergenic),chr1 g.1848733A>G (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 1849529 rs28640257 A G 151 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.648,G/0.352,T/.;Gene=TMEM52/NM_178545.3/1;CC=c.422T>C;ProtCh=p.M141T;VC=Missense;DM=TMEM52/TMEM52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:116:82:0:0:63,1,52:1946,11,1607:0.00,-0.13,151.15:0.00,-0.13,83.40:0.00,-0.00,67.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.1,146.0,47.2:0,0,0:0,0,0:83,42,50:67,109,99:39,0,26:-,NM_178545.3(TMEM52) c.422T>C (p.Met141Thr):-,0.39:-,0.370598 1 1849602 . C . . NT END=1849691;NT GT ./. 1 1849871 . C . . NT END=1850331;NT GT ./. 1 1850374 . C . . NT END=1850483;NT GT ./. 1 1850428 rs2295363 A G 213 nt VT=SNV;PN=C;NN=C;SST=Single;DP=168;DB;DBA=NA;PAF=A/0.4058,G/0.5942;PC=0.001;Gene=TMEM52/NM_178545.3/1;CC=c.129-55T>C;VC=Intron;DM=TMEM52/TMEM52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:168:132:0:0:92,1,74,1:2851,18,2277,12:0.00,0.08,213.33,-0.14:0.00,-0.15,117.34,-0.15:0.00,0.23,95.99,0.01:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:9.2,239.0,43.6,46.0:0,0,0,0:0,0,0,0:66,102,48,17:75,49,98,134:41,0,27,0:-,NM_178545.3(TMEM52) c.129-55T>C:-,0.56:-,NOT_FOUND 1 1850627 rs575852588 CAGCGGCAGG C 186 PASS VT=DEL;SST=Single;DP=169;DB;DBA=NA;PAF=CAGCGGCAGG/0.641,C/0.359;NP=56;PC=0.003;Gene=TMEM52/NM_178545.3/1;CC=c.69_77delCCTGCCGCT;ProtCh=p.L24_L26del;VC=InFrameDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CAGCGGCAGG,C:169:107:0:64:1,104,64:8,3358,2039:-0.23,0.00,186.00:-0.11,0.00,82.48:-0.12,0.00,103.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:118.0,13.3,5.6:0,0,0:0,0,0:79,74,78:72,64,71:0,34,24:-,NM_178545.3(TMEM52) c.51CCTGCCGCT[2] (p.Leu15_Leu17[3]):-,NOT_FOUND:-,0.28098 1 1850705 . G . . NT END=1853725;NT GT ./. 1 1853615 rs113294876 T TCTGA 25 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=314;Gene=CFAP74/NM_001304360.1/1;CC=c.*110_*111insTCAG;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:T,TCTGA:9:9:7:0:2,7:43,232:0.00,24.51:0.00,24.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.5,0.0:0,0:0,0:143,73:4,78:0,23:-,XM_003403417.1(C1orf222) c.*110_*111insTCAG:-,1:-,NOT_FOUND 1 1853828 . C . . NT END=1854027;NT GT ./. 1 1854109 rs2803348 A G 106 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.4012,G/0.5988;PC=0.001;Gene=CFAP74/NM_001304360.1/1;CC=c.4737T>C;ProtCh=p.S1579=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:85:59:0:0:50,35:1650,1145:0.00,106.20:0.00,49.39:0.00,56.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,41.4:0,0:0,0:72,82:73,49:35,37:-,XM_003403417.1(C1orf222) c.735T>C (p.(=)):-,0.57:-,0.531908 1 1854163 . C . . NT END=1854423;NT GT ./. 1 1854321 rs2250833 A G 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.1605,G/0.8395;PC=0.001;Gene=CFAP74/NM_001304360.1/1;CC=c.4683+103T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:27:0:0:28,29:933,916:0.00,88.29:0.00,48.49:0.00,39.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,39.3:0,0:0,0:94,77:56,74:34,46:-,XM_003403417.1(C1orf222) c.681+103T>C:-,0.84:-,NOT_FOUND 1 1854585 . C . . NT END=1854805;NT GT ./. 1 1854939 . C . . NT END=1855213;NT GT ./. 1 1855369 . C . . NT END=1855829;NT GT ./. 1 1855450 rs28423370 A G 77 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.1434,G/0.8566;Gene=CFAP74/NM_001304360.1/1;CC=c.4235-82T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:8:0:0:16,24:451,774:0.00,77.17:0.00,8.55:0.00,68.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,47.8:0,0:0,0:118,115:30,34:24,25:-,XM_003403417.1(C1orf222) c.233-82T>C:-,0.86:-,NOT_FOUND 1 1855622 rs201612731 GC G 11 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5;Gene=CFAP74/NM_001304360.1/1;CC=c.4234+207delG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:GC,G:6:0:0:4:2,4:63,110:0.00,11.25:0.00,0.00:0.00,11.25:0.00,0.93:0.00,0.00:0.00,0.93:60,60:58.0,64.5:0,0:0,0:83,133:58,12:24,3:-,XM_003403417.1(C1orf222) c.232+207delG:-,NOT_FOUND:-,NOT_FOUND 1 1855703 rs369481418 CCG C 12 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CCG/0.6416,C/0.3584;NP=17;PC=0.101;Gene=CFAP74/NM_001304360.1/1;CC=c.4234+125_4234+126delCG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:CCG,C:14:13:0:5:9,5:278,137:0.00,12.12:0.00,9.39:0.00,2.73:0.00,0.90:0.00,0.99:0.00,0.57:60,60:64.9,120.2:0,0:0,0:26,15:93,119:17,6:-,XM_003403417.1(C1orf222) c.232+125_232+126delCG:-,NOT_FOUND:-,NOT_FOUND 1 1855708 rs112908077 C T 15 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6384,T/0.3616;PC=0.089;Gene=CFAP74/NM_001304360.1/1;CC=c.4234+122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,T:15:14:0:0:9,6:292,169:0.00,15.37:0.00,12.39:0.00,2.98:0.00,0.96:0.00,1.00:0.00,0.60:60,60:64.9,107.7:0,5:0,0:31,17:88,117:17,11:-,XM_003403417.1(C1orf222) c.232+122G>A:-,NOT_FOUND:-,NOT_FOUND 1 1855960 . C . . NT END=1857221;NT GT ./. 1 1856227 rs752966 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6432,T/0.3568;Gene=CFAP74/NM_001304360.1/1;CC=c.4105-268G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:6:0:0:0:3,3:86,88:0.00,8.42:0.00,0.00:0.00,8.42:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,99.7:0,0:0,0:133,116:18,34:11,0:-,XM_003403417.1(C1orf222) c.103-268G>A:-,0.39:-,NOT_FOUND 1 1857378 . C . . NT END=1857666;NT GT ./. 1 1857787 . C . . NT END=1857895;NT GT ./. 1 1857952 . C . . NT END=1858090;NT GT ./. 1 1858201 . C . . NT END=1858332;NT GT ./. 1 1858309 rs941530 T C 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.387,C/0.613;Gene=CFAP74/NM_001304360.1/1;CC=c.3662+24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:102:70:0:0:1,43,58:11,1307,1916:-0.13,121.22,0.00:-0.01,63.24,0.00:-0.11,57.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:235.0,38.1,8.9:0,0,0:0,0,0:34,46,64:117,96,83:0,35,33:XM_003403417.1(C1orf222) c.-449A>G,-:0.58,-:NOT_FOUND,- 1 1858468 . C . . NT END=1859045;NT GT ./. 1 1859186 . C . . NT END=1860222;NT GT ./. 1 1859296 rs2748984 T C 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.6444,C/0.3556;Gene=CFAP74/NM_001304360.1/1;CC=c.3388-111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:16:0:0:23,21:764,678:74.15,0.00:17.80,0.00:56.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,9.3:0,0:0,0:130,130:21,21:14,15:XM_003403417.1(C1orf222) c.-1436A>G,-:0.39,-:NOT_FOUND,- 1 1860087 rs2748983 C T 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.402,T/0.598;Gene=CFAP74/NM_001304360.1/1;CC=c.3387+136G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:18:17:0:0:7,11:168,358:0.00,35.89:0.00,32.13:0.00,3.76:0.00,1.00:0.00,1.00:0.00,0.74:60,60:11.6,37.5:0,0:0,0:101,20:49,130:24,18:-,XM_003403417.1(C1orf222) c.-1508-u719G>A:-,0.57:-,NOT_FOUND 1 1860322 . C . . NT END=1861498;NT GT ./. 1 1861343 rs2748967 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6432,T/0.3568;Gene=CFAP74/NM_001304360.1/1;CC=c.3288+156G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,T:12:12:0:0:8,4:241,118:0.00,10.40:0.00,10.40:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:20.6,36.0:0,0:0,0:35,53:114,98:17,16:-,XM_003403417.1(C1orf222) c.-1508-u1975G>A:-,0.39:-,NOT_FOUND 1 1861582 rs2803295 C T 170 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.6442,T/0.3558;PC=1.000;Gene=CFAP74/NM_001304360.1/1;CC=c.3205G>A;ProtCh=p.G1069R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:120:88:0:0:65,55:2030,1794:0.00,169.69:0.00,94.62:0.00,75.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,37.1:0,0:0,0:85,71:60,77:39,41:-,XM_003403417.1(C1orf222) c.-1508-u2214G>A:-,0.39:-,NOT_FOUND 1 1861776 . C . . NT END=1870293;NT GT ./. 1 1870210 rs2803323 G A 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.1653,A/0.8347;Gene=CFAP74/NM_001304360.1/1;CC=c.3011+84C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:43:0:0:26,20:838,601:82.52,0.00:69.45,0.00:13.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,33.6:0,0:0,0:33,39:105,110:22,25:chr1 g.1870209G>A (intergenic),-:0.83,-:NOT_FOUND,- 1 1870269 rs71630949 C T 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.9762,T/0.02376;Gene=CFAP74/NM_001304360.1/1;CC=c.3011+25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:73:66:0:0:42,1,30:1405,10,963:0.00,-0.12,89.38:0.00,-0.04,57.33:0.00,-0.08,32.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:25.2,83.0,39.8:0,0,0:0,0,0:52,19,56:86,122,87:27,0,33:-,chr1 g.1870268C>T (intergenic):-,0.02:-,NOT_FOUND 1 1870428 . C . . NT END=1871032;NT GT ./. 1 1871207 . C . . NT END=1871754;NT GT ./. 1 1871417 rs2803324 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1633,C/0.8367;Gene=CFAP74/NM_001304360.1/1;CC=c.2704-211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,T:15:1:0:0:6,9:187,281:17.18,0.00:-0.22,0.00:17.40,0.00:0.96,0.00:0.60,0.00:1.00,0.00:60,60:31.2,12.2:0,0:0,0:116,116:35,34:23,13:chr1 g.1871416T>C (intergenic),-:0.83,-:NOT_FOUND,- 1 1871843 . C . . NT END=1873466;NT GT ./. 1 1873453 rs2748981 G A 124 nt VT=SNV;PN=C;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.4075,A/0.5925;Gene=CFAP74/NM_001304360.1/1;CC=c.2615+14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:85:69:0:0:40,44,1:1300,1365,11:123.83,0.00,-0.08:74.83,0.00,-0.01:49.00,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:84.0,6.5,29.0:0,0,0:0,0,0:52,35,96:94,111,55:26,22,0:chr1 g.1873452G>A (intergenic),-:0.56,-:NOT_FOUND,- 1 1873514 rs2803326 A G 152 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=A/0.4075,G/0.5925;PC=1.000;Gene=CFAP74/NM_001304360.1/1;CC=c.2568T>C;ProtCh=p.Y856=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:109:82:0:0:61,48:1900,1615:0.00,151.99:0.00,68.42:0.00,83.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,91.2:0,0:0,0:59,82:86,69:34,26:-,chr1 g.1873513A>G (intergenic):-,0.56:-,NOT_FOUND 1 1873525 rs2803327 T C 137 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.4075,C/0.5925;PC=0.989;Gene=CFAP74/NM_001304360.1/1;CC=c.2557A>G;ProtCh=p.K853E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:100:75:0:0:44,56:1453,1802:136.52,0.00:65.39,0.00:71.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:92.1,9.6:0,0:0,0:86,64:64,83:29,32:chr1 g.1873524T>C (intergenic),-:0.56,-:NOT_FOUND,- 1 1873596 . C . . NT END=1875769;NT GT ./. 1 1873697 rs2748980 G A 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.4087,A/0.5913;Gene=CFAP74/NM_001304360.1/1;CC=c.2487-102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:7:0:0:13,17:374,556:34.66,0.00:6.03,0.00:28.63,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:79.7,3.5:0,0:0,0:102,107:48,43:34,22:chr1 g.1873696G>A (intergenic),-:0.56,-:NOT_FOUND,- 1 1873699 rs2748979 G C 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4093,C/0.5907;Gene=CFAP74/NM_001304360.1/1;CC=c.2487-104C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:28:5:0:0:1,11,16:11,374,520:0.09,34.72,0.00:-0.02,6.78,0.00:0.11,27.94,0.00:0.00,1.00,0.00:0.00,0.91,0.00:0.00,1.00,0.00:60,60,60:228.0,71.5,3.7:0,0,0:0,0,0:115,86,108:36,65,41:0,49,27:chr1 g.1873698G>C (intergenic),-:0.56,-:NOT_FOUND,- 1 1875513 rs2803332 T C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6144,C/0.3856;Gene=CFAP74/NM_001304360.1/1;CC=c.2486+257A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:11:11:0:0:5,6:168,196:15.89,0.00:15.89,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:70.8,15.8:0,0:0,0:111,99:40,51:28,7:chr1 g.1875512T>C (intergenic),-:0.42,-:NOT_FOUND,- 1 1875530 rs2803333 G C 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6142,C/0.3858;PC=0.001;Gene=CFAP74/NM_001304360.1/1;CC=c.2486+240C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:16:0:0:8,8:266,264:25.60,0.00:25.60,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:93.8,11.9:0,0:0,0:30,84:120,66:26,39:chr1 g.1875529G>C (intergenic),-:0.42,-:NOT_FOUND,- 1 1875621 rs2803334 G C 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.6132,C/0.3868;Gene=CFAP74/NM_001304360.1/1;CC=c.2486+149C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:36:0:0:18,21:569,655:53.80,0.00:44.71,0.00:9.08,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:83.7,18.6:0,0:0,0:48,50:100,100:28,27:chr1 g.1875620G>C (intergenic),-:0.42,-:NOT_FOUND,- 1 1875655 rs2803335 C T 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.6322,T/0.3678;PC=0.001;Gene=CFAP74/NM_001304360.1/1;CC=c.2486+115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:53:0:0:31,25:1022,738:0.00,69.02:0.00,58.12:0.00,10.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.5,72.2:0,0:0,0:57,54:71,89:31,30:-,chr1 g.1875654C>T (intergenic):-,0.4:-,NOT_FOUND 1 1875858 rs2803336 C G 154 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.615,G/0.385;PC=0.992;Gene=CFAP74/NM_001304360.1/1;CC=c.2398G>C;ProtCh=p.V800L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:116:75:0:0:67,49:2256,1653:0.00,154.38:0.00,67.88:0.00,86.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,68.8:0,0:0,0:72,63:77,76:38,29:-,chr1 g.1875857C>G (intergenic):-,0.4:-,NOT_FOUND 1 1875859 rs2803337 A G 147 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=A/0.6022,G/0.3978;PC=0.007;Gene=CFAP74/NM_001304360.1/1;CC=c.2397T>C;ProtCh=p.D799=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:115:74:0:0:66,49:2185,1581:0.00,147.35:0.00,60.08:0.00,87.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,65.4:0,0:0,0:88,52:61,98:32,29:-,chr1 g.1875858A>G (intergenic):-,0.41:-,NOT_FOUND 1 1875892 . C . . NT END=1877755;NT GT ./. 1 1877879 . C . . NT END=1878428;NT GT ./. 1 1878071 rs2803340 C T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6166,T/0.3834;Gene=CFAP74/NM_001304360.1/1;CC=c.2242-193G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:15:2:0:0:6,9:190,263:0.00,26.16:0.00,3.16:0.00,23.00:0.00,1.00:0.00,0.87:0.00,1.00:60,60:0.0,57.9:0,0:0,0:87,87:63,64:51,53:-,chr1 g.1878070C>T (intergenic):-,0.41:-,0.395094 1 1878494 . C . . NT END=1886211;NT GT ./. 1 1878628 rs2803341 C T 11 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6136,T/0.3864;Gene=CFAP74/NM_001304360.1/1;CC=c.2177-135G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:10:0:0:0:6,4:142,122:0.00,11.23:0.00,0.00:0.00,11.23:0.00,0.84:0.00,0.00:0.00,0.84:60,60:13.8,30.5:0,0:0,0:83,142:67,5:44,2:-,chr1 g.1878627C>T (intergenic):-,0.42:-,NOT_FOUND 1 1886222 rs2803287 T G 131 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1897,C/.,G/0.8103;PC=0.014;Gene=CFAP74/NM_001304360.1/1;CC=c.2176+908A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:81:68:0:0:41,40:1358,1279:130.97,0.00:73.59,0.00:57.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,2.8:0,0:0,0:28,35:115,114:23,22:NM_001080484.1(KIAA1751) c.*795A>C,-:0.82,-:NOT_FOUND,- 1 1886385 rs2803286 T C 222 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=178;DB;DBA=NA;PAF=T/0.1899,C/0.8101;Gene=CFAP74/NM_001304360.1/1;CC=c.2176+745A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:178:142:0:0:73,1,104:2395,27,3154:222.25,0.73,0.00:144.98,-0.18,0.00:77.27,0.91,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,27.0,5.5:0,0,0:0,0,0:75,8,60:68,141,87:42,0,37:NM_001080484.1(KIAA1751) c.*632A>G,-:0.82,-:0.810337,- 1 1886501 rs2748976 C A 110 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=242;DB;DBA=NA;PAF=NA;Gene=CFAP74/NM_001304360.1/1;CC=c.2176+629G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,I:242:167:10:0:43,189,10:1372,5993,334:109.51,0.00,20.89:63.48,0.00,10.57:46.02,0.00,10.32:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:77.8,16.9,31.4:0,1,0:0,0,0:44,93,61:96,28,72:14,28,3:NM_001080484.1(KIAA1751) c.*516G>T,-:0.35,-:NOT_FOUND,- 1 1886519 rs2748975 C A 199 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=243;DB;DBA=NA;PAF=C/0.3926,A/0.6074;PC=0.003;Gene=CFAP74/NM_001304360.1/1;CC=c.2176+611G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:243:152:0:0:70,173:2292,5500:199.28,0.00:93.32,0.00:105.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.5,15.1:0,0:0,0:65,107:69,11:23,24:NM_001080484.1(KIAA1751) c.*498G>T,-:0.75,-:NOT_FOUND,- 1 1887019 rs28548017 A G 229 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=180;DB;DBA=NA;PAF=A/0.2023,G/0.7977;Gene=CFAP74/NM_001304360.1/1;CC=c.2176+111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:180:120:0:0:104,75,1:3287,2459,11:0.00,228.87,-0.19:0.00,128.79,-0.14:0.00,100.08,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.3,44.0,63.0:0,0,0:0,0,0:62,61,95:88,90,55:32,34,0:-,NM_001080484.1(KIAA1751) c.2287T>C (p.*763Glnfs*?):-,0.81:-,0.808489 1 1887290 . C . . NT END=1888058;NT GT ./. 1 1888224 . C . . NT END=1890558;NT GT ./. 1 1888369 rs2803285 A G 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1328,G/0.8672;Gene=CFAP74/NM_001304360.1/1;CC=c.1852-146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:10,13:343,370:0.00,36.32:0.00,0.00:0.00,36.32:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.0,44.4:0,0:0,0:88,115:61,36:24,19:-,NM_001080484.1(KIAA1751) c.1852-146T>C:-,0.87:-,NOT_FOUND 1 1890649 . C . . NT END=1891402;NT GT ./. 1 1891470 . C . . NT END=1895187;NT GT ./. 1 1895307 . C . . NT END=1896326;NT GT ./. 1 1896501 . C . . NT END=1897809;NT GT ./. 1 1897966 . C . . NT END=1900073;NT GT ./. 1 1900186 rs35269416 T C 168 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=T/0.846,C/0.154;Gene=CFAP74/NM_001304360.1/1;CC=c.1133A>G;ProtCh=p.K378R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:110:84:0:0:53,57:1757,1803:167.89,0.00:91.99,0.00:75.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.5,5.3:0,0:0,0:61,67:89,81:39,33:NM_001080484.1(KIAA1751) c.1133A>G (p.Lys378Arg),-:0.15,-:0.163249,- 1 1900232 rs16824588 T C 166 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.6122,C/0.3878;PC=0.015;Gene=CFAP74/NM_001304360.1/1;CC=c.1087A>G;ProtCh=p.I363V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:107:64:0:0:54,53:1729,1722:166.43,0.00:83.64,0.00:82.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.4,5.2:0,0:0,0:76,86:69,65:29,30:NM_001080484.1(KIAA1751) c.1087A>G (p.Ile363Val),-:0.41,-:0.435143,- 1 1900273 . C . . NT END=1902097;NT GT ./. 1 1900454 rs6681749 A G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3524,G/0.6476;Gene=CFAP74/NM_001304360.1/1;CC=c.1047-182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:1:0:0:8,9:241,287:0.00,27.86:0.00,-0.33:0.00,28.19:0.00,1.00:0.00,0.69:0.00,1.00:60,60:4.0,42.1:0,0:0,0:57,83:94,66:37,19:-,NM_001080484.1(KIAA1751) c.1047-182T>C:-,0.6:-,NOT_FOUND 1 1901945 rs13303126 T A 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.6052,A/0.3948;Gene=CFAP74/NM_001304360.1/1;CC=c.1046+153A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:31:31:0:0:16,15:478,498:46.09,0.00:46.09,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.8,10.9:0,0:0,0:17,77:128,68:8,31:NM_001080484.1(KIAA1751) c.1046+153A>T,-:0.4,-:NOT_FOUND,- 1 1902256 . C . . NT END=1903418;NT GT ./. 1 1903303 rs4648603 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5062,T/0.4938;Gene=CFAP74/NM_001304360.1/1;CC=c.888+116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:18:18:0:0:8,1,9:268,18,258:0.00,0.86,24.94:0.00,0.86,24.94:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:12.5,27.0,65.7:0,0,0:0,0,0:52,111,54:98,40,97:48,0,13:-,NM_001080484.1(KIAA1751) c.888+116G>A:-,0.52:-,NOT_FOUND 1 1903357 rs13303329 G C 72 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.8111,A/.,C/0.1889,T/.;Gene=CFAP74/NM_001304360.1/1;CC=c.888+62C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:31:0:0:22,12:715,386:72.34,0.00:61.39,0.00:10.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.2,9.1:0,0:0,0:28,46:111,104:16,24:NM_001080484.1(KIAA1751) c.888+62C>G,-:0.19,-:NOT_FOUND,- 1 1903522 . C . . NT END=1904375;NT GT ./. 1 1904487 . C . . NT END=1905463;NT GT ./. 1 1905638 . C . . NT END=1916824;NT GT ./. 1 1905790 rs16824603 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7879,G/0.2121;Gene=CFAP74/NM_001304360.1/1;CC=c.501-153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,G:15:0:0:0:10,5:283,146:0.00,12.84:0.00,0.00:0.00,12.84:0.00,0.89:0.00,0.00:0.00,0.89:60,60:25.5,100.4:0,0:0,0:108,127:42,24:17,11:-,NM_001080484.1(KIAA1751) c.501-153T>C:-,0.22:-,NOT_FOUND 1 1916930 . C . . NT END=1918375;NT GT ./. 1 1918191 rs4233028 A G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3578,G/0.6422;Gene=CFAP74/NM_001304360.1/1;CC=c.395+185T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:263,225:0.00,21.22:0.00,21.22:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:26.1,48.8:0,0:0,0:31,65:120,85:19,32:-,NM_001080484.1(KIAA1751) c.395+185T>C:-,0.62:-,NOT_FOUND 1 1918475 . C . . NT END=1919950;NT GT ./. 1 1918488 rs4350140 A G 115 nt VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.3694,G/0.6306;Gene=CFAP74/NM_001304360.1/1;CC=c.297-14T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:74:41:0:0:38,36:1199,1201:0.00,114.96:0.00,38.10:0.00,76.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,38.9:0,0:0,0:110,113:32,35:24,26:-,NM_001080484.1(KIAA1751) c.297-14T>C:-,0.61:-,0.640385 1 1920095 . C . . NT END=1920327;NT GT ./. 1 1920269 rs566278280 A C 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.7029,C/0.2971;PC=0.004;Gene=CFAP74/NM_001304360.1/1;CC=c.152+59T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,C:26:4:0:0:21,5:440,141:0.00,11.00:0.00,12.04:0.00,-1.05:0.00,0.82:0.00,0.58:0.00,0.97:60,60:19.7,90.6:0,1:0,0:101,97:50,26:32,5:-,NM_001080484.1(KIAA1751) c.152+59T>G:-,NOT_FOUND:-,NOT_FOUND 1 1920281 rs142908187 A C 7 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.008;Gene=CFAP74/NM_001304360.1/1;CC=c.152+47T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,C:24:3:0:0:19,5:409,102:0.00,7.30:0.00,5.40:0.00,1.90:0.00,0.83:0.00,0.54:0.00,0.98:60,60:16.1,82.6:0,0:0,0:84,94:67,14:43,20:-,NM_001080484.1(KIAA1751) c.152+47T>G:-,NOT_FOUND:-,NOT_FOUND 1 1920413 . C . . NT END=1922328;NT GT ./. 1 1920434 . T TA 7 rn VT=INS;SST=Single;DP=29;NP=30;PC=0.002;Gene=CFAP74/NM_001304360.1/1;CC=c.68-23dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:T,TA,D:29:12:3:3:23,3,3:671,95,87:0.00,6.89,6.09:0.00,2.45,1.96:0.00,4.44,4.14:0.00,0.43,0.00:0.00,0.65,0.00:0.00,0.87,0.00:60,60,60:42.7,23.3,4.0:0,0,0:0,0,0:90,70,30:58,72,120:21,1,11:-,NM_001080484.1(KIAA1751) c.68-23_68-22insT:-,NOT_FOUND:-,NOT_FOUND 1 1922303 rs13303195 C T 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.3504,T/0.6496;Gene=CFAP74/NM_001304360.1/1;CC=c.67+26G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:41:0:0:23,22:738,730:0.00,69.94:0.00,46.12:0.00,23.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,41.1:0,0:0,0:71,51:80,99:28,40:-,NM_001080484.1(KIAA1751) c.67+26G>A:-,0.63:-,0.642404 1 1922396 . G . . NT END=1950862;NT GT ./. 1 1950931 . G . . NT END=1956380;NT GT ./. 1 1956362 rs2376805 G A 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.2244,A/0.7756;Gene=GABRD/NM_000815.4/1;CC=c.69-19G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:35:0:0:25,19:837,596:82.54,0.00:53.22,0.00:29.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.2,4.3:0,0:0,0:31,48:113,103:20,23:NM_000815.4(GABRD) c.69-19G>A,-:0.8,-:0.819699,- 1 1956494 . G . . NT END=1956772;NT GT ./. 1 1956841 . G . . NT END=1956956;NT GT ./. 1 1957037 rs2229110 T C 147 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.4387,C/0.5613;Gene=GABRD/NM_000815.4/1;CC=c.330T>C;ProtCh=p.G110=;VC=Silent;DM=GABRD/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:114:79:0:0:2,47,1,64:46,1579,9,1986:1.88,147.48,-0.18,0.00:2.15,89.88,-0.05,0.00:-0.27,57.60,-0.13,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:39.0,37.8,92.0,8.0:0,0,0,0:0,0,0,0:59,79,143,59:91,65,7,89:27,38,0,34:NM_000815.4(GABRD) c.330T>C (p.(=)),-:0.59,-:0.6843,- 1 1957178 . G . . NT END=1959015;NT GT ./. 1 1957299 rs3820007 C T 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.7087,T/0.2913;Gene=GABRD/NM_000815.4/1;CC=c.470+122C>T;VC=Intron;DM=GABRD/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:1:0:0:13,10:371,299:0.00,27.82:0.00,2.81:0.00,25.01:0.00,1.00:0.00,0.62:0.00,1.00:60,60:17.9,42.0:0,0:0,0:97,84:54,66:50,34:-,NM_000815.4(GABRD) c.470+122C>T:-,0.36:-,NOT_FOUND 1 1959099 . G . . NT END=1959593;NT GT ./. 1 1959261 rs28574670 A G 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1434,G/0.8566;PC=0.001;Gene=GABRD/NM_000815.4/1;CC=c.553+163A>G;VC=Intron;DM=GABRD/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,G,T:15:4:0:0:8,6,1:262,171,10:0.00,15.78,0.20:0.00,-0.89,-0.12:0.00,16.67,0.32:0.00,0.96,0.00:0.00,0.87,0.00:0.00,0.99,0.00:60,60,60:1.2,34.5,103.0:0,0,0:0,0,0:50,80,84:101,70,67:27,41,0:-,NM_000815.4(GABRD) c.553+163A>G:-,0.85:-,NOT_FOUND 1 1959732 . G . . NT END=1960549;NT GT ./. 1 1960706 . G . . NT END=1960989;NT GT ./. 1 1960926 rs28581504 T C 110 nt VT=SNV;PN=A;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.1767,C/0.8233;Gene=GABRD/NM_000815.4/1;CC=c.848-64T>C;VC=Intron;DM=GABRD/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:56:0:0:38,43:1163,1347:110.02,0.00:71.87,0.00:38.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,14.5:0,0:0,0:66,59:85,89:28,36:NM_000815.4(GABRD) c.848-64T>C,-:0.83,-:NOT_FOUND,- 1 1961202 . G . . NT END=1961421;NT GT ./. 1 1961722 . G . . NT END=1982069;NT GT ./. 1 1981836 rs56380654 C T 43 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2827,T/0.7173 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:12:0:0:13:371:43.25:37.58:5.67:1.00:1.00:1.00:60:55.7:0:0:44:107:34:NM_002744.4(PRKCZ) c.-161-u73C>T,NM_002744.4(PRKCZ) c.-161-u73C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 1982141 . G . . NT END=1986879;NT GT ./. 1 1986736 rs35052584 GA G 24 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GA/0.7282,G/0.2718;PC=0.002;Gene=PRKCZ/NM_002744.4/1;CC=c.72-143delA;VC=Intron;DM=PRKCZ/PB1;DM=PRKCZ/PB1;DM=PRKCZ/PB1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:16:16:0:9:8,8:233,251:0.00,24.10:0.00,24.25:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.67:60,60:4.8,18.5:0,0:0,0:62,54:88,96:26,25:-,NM_002744.4(PRKCZ) c.72-143delA:-,0.28:-,NOT_FOUND 1 1987002 . G . . NT END=1987922;NT GT ./. 1 1987050 rs372725617 G T 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=3;Gene=PRKCZ/NM_002744.4/1;CC=c.193+49G>T;VC=Intron;DM=PRKCZ/PB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:66:28:0:0:32,34:1085,1160:0.00,112.38:0.00,34.30:0.00,78.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,38.5:0,0:0,0:89,96:44,47:35,17:-,NM_002744.4(PRKCZ) c.193+49G>T:-,NOT_FOUND:-,0.000077 1 1987208 rs2271797 T C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7486,C/0.2514;PC=0.006;Gene=PRKCZ/NM_002744.4/1;CC=c.193+207T>C;VC=Intron;DM=PRKCZ/PB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:8:0:0:0:3,5:104,152:9.53,0.00:0.00,0.00:9.53,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:64.3,29.4:0,0:0,0:127,71:22,78:9,22:NM_002744.4(PRKCZ) c.193+207T>C,-:0.24,-:NOT_FOUND,- 1 1987993 rs12184 T C 89 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.3301,C/0.6699;Gene=PRKCZ/NM_002744.4/1;CC=c.264T>C;ProtCh=p.D88=;VC=Silent;DM=PRKCZ/PB1;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:33:0:0:29,17:888,533:89.41,0.00:30.55,0.00:58.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.6,6.2:0,0:0,0:78,61:50,89:27,26:NM_002744.4(PRKCZ) c.264T>C (p.(=)),-:0.63,-:0.50469,- 1 1988013 . G . . NT END=1990979;NT GT ./. 1 1988044 rs3820005 G C 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.8988,A/.,C/0.1012,T/.;PC=0.001;Gene=PRKCZ/NM_002744.4/1;CC=c.283+32G>C;VC=Intron;DM=PRKCZ/PB1;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:18:0:0:19,15:588,488:57.76,0.00:15.74,0.00:42.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.9,5.0:0,0:0,0:104,87:45,64:19,46:NM_002744.4(PRKCZ) c.283+32G>C,-:0.1,-:0.107566,- 1 1991031 . G . . NT END=2005085;NT GT ./. 1 1991173 rs2247923 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3656,G/0.6344;Gene=PRKCZ/NM_002744.4/1;CC=c.334+143A>G;VC=Intron;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:6:0:0:0:3,3:106,87:0.00,8.32:0.00,0.00:0.00,8.32:0.00,0.73:0.00,0.00:0.00,0.73:60,60:6.3,63.7:0,0:0,0:110,32:41,119:30,0:-,NM_002744.4(PRKCZ) c.334+143A>G:-,0.59:-,NOT_FOUND 1 2004947 rs2678942 T C 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3289,C/0.6711;Gene=PRKCZ/NM_002744.4/1;CC=c.334+13917T>C;VC=Intron;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:19:0:0:13,7:399,238:40.47,0.00:38.49,0.00:1.98,0.00:1.00,0.00:1.00,0.00:0.77,0.00:60,60:45.8,1.1:0,0:0,0:33,89:117,62:19,59:NM_002744.4(PRKCZ) c.334+13917T>C,-:0.62,-:NOT_FOUND,- 1 2005369 . G . . NT END=2005424;NT GT ./. 1 2005715 . G . . NT END=2036154;NT GT ./. 1 2005740 rs2459986 T C 306 nt VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.06749,C/0.9325;PC=0.002;Gene=PRKCZ/NM_002744.4/1;CC=c.334+14710T>C;VC=Intron;Gene=PRKCZ/NM_001033581.1/0;CC=c.-216+372T>C;VC=Intron;Gene=PRKCZ/NM_001242874.1/0;CC=c.22+26T>C;VC=Intron;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:93:45:0:0:1,92:11,2639:0.14,306.09:0.00,110.89:0.14,195.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:95.0,44.8:0,0:0,0:50,97:101,49:0,30:NM_002744.4(PRKCZ) c.334+14710T>C,NM_002744.4(PRKCZ) c.334+14710T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 2035977 rs10752742 G T 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4694,T/0.5306;Gene=PRKCZ/NM_002744.4/1;CC=c.335-30724G>T;VC=Intron;Gene=PRKCZ/NM_001033581.1/0;CC=c.-216+30609G>T;VC=Intron;Gene=PRKCZ/NM_001242874.1/0;CC=c.22+30263G>T;VC=Intron;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:29:28:0:0:17,12:493,363:0.00,33.46:0.00,30.97:0.00,2.49:0.00,1.00:0.00,1.00:0.00,0.61:60,60:15.5,42.3:0,0:0,0:34,52:113,98:22,25:-,NM_002744.4(PRKCZ) c.335-30724G>T:-,0.55:-,NOT_FOUND 1 2036263 rs10797413 G A 304 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=219;DB;DBA=NA;PAF=G/0.4349,A/0.5651;PC=0.001;Gene=PRKCZ/NM_002744.4/1;CC=c.335-30438G>A;VC=Intron;Gene=PRKCZ/NM_001033581.1/0;CC=c.-215-30438G>A;VC=Intron;Gene=PRKCZ/NM_001242874.1/0;CC=c.23-30438G>A;VC=Intron;Gene=PRKCZ/NM_001033582.1/0;CC=c.-287G>A;VC=5UTR;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:219:142:0:0:102,117:3208,3849:303.69,0.00:138.74,0.00:164.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,4.0:0,0:0,0:81,60:63,82:34,32:NM_002744.4(PRKCZ) c.335-30438G>A,-:0.57,-:NOT_FOUND,- 1 2036335 . G . . NT END=2066700;NT GT ./. 1 2036597 rs3128332 G T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.08626,T/0.9137;PC=0.001;Gene=PRKCZ/NM_002744.4/1;CC=c.335-30104G>T;VC=Intron;Gene=PRKCZ/NM_001033581.1/0;CC=c.-215-30104G>T;VC=Intron;Gene=PRKCZ/NM_001242874.1/0;CC=c.23-30104G>T;VC=Intron;Gene=PRKCZ/NM_001033582.1/0;CC=c.-216+263G>T;VC=Intron;DM=PRKCZ/Pkinase;DM=PRKCZ/Pkinase;DM=PRKCZ/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:G,T:6:0:0:0:3,3:92,101:0.00,9.73:0.00,0.00:0.00,9.73:0.00,0.73:0.00,0.00:0.00,0.73:60,60:4.0,61.3:0,0:0,0:132,131:18,19:4,15:-,NM_002744.4(PRKCZ) c.335-30104G>T:-,0.91:-,NOT_FOUND 1 2066787 . G . . NT END=2075648;NT GT ./. 1 2075781 . G . . NT END=2075889;NT GT ./. 1 2076024 . G . . NT END=2077465;NT GT ./. 1 2077548 . G . . NT END=2080310;NT GT ./. 1 2080364 . G . . NT END=2082228;NT GT ./. 1 2082418 . G . . NT END=2087433;NT GT ./. 1 2087532 . G . . NT END=2100956;NT GT ./. 1 2101044 . g . . NT END=2103493;NT GT ./. 1 2103630 . G . . NT END=2103739;NT GT ./. 1 2103828 . G . . NT END=2105335;NT GT ./. 1 2104013 rs140557260 C T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9954,T/0.004593;NP=12;Gene=PRKCZ/NM_002744.4/1;CC=c.1285+186C>T;VC=Intron;Gene=PRKCZ/NM_001033581.1/0;CC=c.736+186C>T;VC=Intron;Gene=PRKCZ/NM_001242874.1/0;CC=c.973+186C>T;VC=Intron;Gene=PRKCZ/NM_001033582.1/0;CC=c.736+186C>T;VC=Intron;DM=PRKCZ/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,G,T:10:0:0:0:5,1,4:164,10,132:0.00,0.33,12.41:0.00,0.00,0.00:0.00,0.33,12.41:0.00,0.00,0.84:0.00,0.00,0.00:0.00,0.00,0.84:60,60,60:0.0,47.0,50.8:0,0,0:0,0,0:97,62,102:53,57,48:8,0,31:-,NM_002744.4(PRKCZ) c.1285+186C>T:-,0.0041:-,NOT_FOUND 1 2105456 . G . . NT END=2106192;NT GT ./. 1 2106273 . G . . NT END=2106662;NT GT ./. 1 2106753 . G . . NT END=2116021;NT GT ./. 1 2106840 rs12135175 T C 71 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.040;Gene=PRKCZ/NM_002744.4/1;CC=c.1575+88T>C;VC=Intron;Gene=PRKCZ/NM_001033581.1/0;CC=c.1026+88T>C;VC=Intron;Gene=PRKCZ/NM_001242874.1/0;CC=c.1263+88T>C;VC=Intron;Gene=PRKCZ/NM_001033582.1/0;CC=c.1026+88T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:0:0:0:19:617:70.76:0.00:70.76:1.00:0.00:1.00:60:56.7:0:0:88:62:34:NM_002744.4(PRKCZ) c.1575+88T>C,NM_002744.4(PRKCZ) c.1575+88T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 2106896 rs12135178 T C 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=47;PC=0.582;Gene=PRKCZ/NM_002744.4/1;CC=c.1575+144T>C;VC=Intron;Gene=PRKCZ/NM_001033581.1/0;CC=c.1026+144T>C;VC=Intron;Gene=PRKCZ/NM_001242874.1/0;CC=c.1263+144T>C;VC=Intron;Gene=PRKCZ/NM_001033582.1/0;CC=c.1026+144T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:0:0:0:12:373:43.02:0.00:43.02:1.00:0.00:1.00:60:81.2:0:0:118:32:20:NM_002744.4(PRKCZ) c.1575+144T>C,NM_002744.4(PRKCZ) c.1575+144T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2116138 . G . . NT END=2116360;NT GT ./. 1 2116449 . G . . NT END=2121147;NT GT ./. 1 2121221 . C . . NT END=2123333;NT GT ./. 1 2123179 rs537217585 C CA 7 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FAAP20/NM_001256945.1/0;CC=c.334+1898_334+1899insT;VC=Intron;Gene=FAAP20/NM_001282671.1/0;CC=c.-477+1104_-477+1105insT;VC=Intron;Gene=FAAP20/NM_001282672.1/0;CC=c.-477+1898_-477+1899insT;VC=Intron;Gene=FAAP20/NM_001282673.1/0;CC=c.470+1898_470+1899insT;VC=Intron;Gene=FAAP20/NM_001146310.1/0;CC=c.457+1898_457+1899insT;VC=Intron;Gene=FAAP20/NM_001256947.1/0;CC=c.334+1898_334+1899insT;VC=Intron;Gene=FAAP20/NM_182533.2/0;CC=c.470+1898_470+1899insT;VC=Intron;Gene=FAAP20/NR_046427.1/0;VC=NonCoding;Gene=FAAP20/NM_001282670.1/1;CC=c.779+1898_779+1899insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:C,CA,D:20:20:3:2:15,3,2:490,93,61:0.00,7.20,4.37:0.00,7.20,4.37:0.00,0.00,0.00:0.00,0.50,0.00:0.00,0.50,0.00:0.00,0.00,0.00:60,60,60:19.5,31.0,0.0:0,0,0:0,0,0:68,29,74:83,121,76:38,16,13:-,NM_001146310.1(C1orf86) c.457+1898_457+1899insT:-,NOT_FOUND:-,NOT_FOUND 1 2124096 . a . . NT END=2124342;NT GT ./. 1 2124415 . C . . NT END=2125077;NT GT ./. 1 2125350 . C . . NT END=2125436;NT GT ./. 1 2125573 . C . . NT END=2126126;NT GT ./. 1 2126139 rs6662296 C G 245 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=294;Gene=FAAP20/NM_001256945.1/0;CC=c.50G>C;ProtCh=p.R17P;VC=Missense;Gene=FAAP20/NM_001282671.1/0;CC=c.-1028G>C;VC=5UTR;Gene=FAAP20/NM_001282672.1/0;CC=c.-897G>C;VC=5UTR;Gene=FAAP20/NM_001282673.1/0;CC=c.50G>C;ProtCh=p.R17P;VC=Missense;Gene=FAAP20/NM_001146310.1/0;CC=c.186-790G>C;VC=Intron;Gene=FAAP20/NM_001256947.1/0;CC=c.50G>C;ProtCh=p.R17P;VC=Missense;Gene=FAAP20/NM_182533.2/0;CC=c.50G>C;ProtCh=p.R17P;VC=Missense;Gene=FAAP20/NR_046427.1/0;VC=NonCoding;Gene=FAAP20/NM_001282670.1/1;CC=c.372-567G>C;VC=Intron;Gene=FAAP20/NM_001256946.1/0;CC=c.50G>C;ProtCh=p.R17P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:60:0:0:68:2129:245.20:140.13:105.07:1.00:1.00:1.00:60:62.8:1:0:48:86:24:NM_001146310.1(C1orf86) c.186-790G>C,NM_001146310.1(C1orf86) c.186-790G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2126215 . C . . NT END=2129445;NT GT ./. 1 2129458 rs41315340 G T 49 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.9954,T/0.004593;NP=13;Gene=FAAP20/NM_001146310.1/0;CC=c.173C>A;ProtCh=p.T58K;VC=Missense;Gene=FAAP20/NM_001282670.1/1;CC=c.359C>A;ProtCh=p.T120K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:71:54:0:0:53,18:1678,574:0.00,48.55:0.00,40.30:0.00,8.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,40.5:0,0:0,0:79,68:71,82:41,23:-,NM_001146310.1(C1orf86) c.173C>A (p.Thr58Lys):-,0.0037:-,NOT_FOUND 1 2129582 . C . . NT END=2130192;NT GT ./. 1 2131087 . g . . NT END=2132081;NT GT ./. 1 2132665 . C . . NT END=2134874;NT GT ./. 1 2135070 . C . . NT END=2160205;NT GT ./. 1 2136348 . GC G 12 rn VT=DEL;SST=Single;DP=4;PC=0.004;Gene=FAAP20/NM_001146310.1/0;CC=c.-322-1280delG;VC=Intron;Gene=FAAP20/NM_001282670.1/1;CC=c.-2304-1280delG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:4:4:106:12.50:0.00:12.50:1.00:0.00:1.00:60:29.0:0:0:79:43:19:NM_001146310.1(C1orf86) c.-322-1280delG,NM_001146310.1(C1orf86) c.-322-1280delG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2161175 . G . . NT END=2171936;NT GT ./. 1 2171637 rs10797414 G C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6534,C/0.3466;PC=0.005;Gene=SKI/NM_003036.3/1;CC=c.969+10463G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,G:8:7:0:0:3,5:105,159:9.63,0.00:9.94,0.00:-0.31,0.00:0.67,0.00:0.95,0.00:0.67,0.00:60,60:84.0,19.2:0,0:0,0:68,52:83,99:8,7:NM_003036.3(SKI) c.969+10463G>C,-:0.32,-:NOT_FOUND,- 1 2171983 rs10797415 C T 239 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=C/0.6629,T/0.3371;Gene=SKI/NM_003036.3/1;CC=c.969+10809C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:149:109:0:0:74,75:2225,2481:0.00,239.14:0.00,141.49:0.00,97.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,39.1:0,0:0,0:88,83:56,61:33,36:-,NM_003036.3(SKI) c.969+10809C>T:-,0.31:-,NOT_FOUND 1 2172232 . G . . NT END=2234416;NT GT ./. 1 2234251 rs1496555 A G 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1332,G/0.8668;PC=0.001;Gene=SKI/NM_003036.3/1;CC=c.970-166A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:23:0:0:23:715:82.46:82.46:0.00:1.00:1.00:0.00:60:41.9:0:0:44:107:26:NM_003036.3(SKI) c.970-166A>G,NM_003036.3(SKI) c.970-166A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 2234543 . G . . NT END=2234723;NT GT ./. 1 2234632 rs2279702 G A 249 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.8872,A/0.1128;Gene=SKI/NM_003036.3/1;CC=c.1095+90G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:72:34:0:0:72:2148:248.83:107.11:141.72:1.00:1.00:1.00:60:41.5:0:0:94:57:33:NM_003036.3(SKI) c.1095+90G>A,NM_003036.3(SKI) c.1095+90G>A:0.12,0.12:NOT_FOUND,NOT_FOUND 1 2234840 . G . . NT END=2235278;NT GT ./. 1 2235019 rs4648631 T C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8399,C/0.1601;Gene=SKI/NM_003036.3/1;CC=c.1211+180T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,G:7:4:0:0:6,1:172,12:19.63,0.86:12.61,0.00:7.02,0.86:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.8,38.0:0,0:0,0:124,120:26,31:6,0:NM_003036.3(SKI) c.1211+180T>C,NM_003036.3(SKI) c.1211+180T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 1 2235548 . G . . NT END=2235731;NT GT ./. 1 2235656 rs11577387 G A 529 nt VT=SNV;PN=C;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.9016,A/0.09844;Gene=SKI/NM_003036.3/1;CC=c.1475-76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:141:88:0:0:140,1:4647,33:528.81,0.00:248.75,0.00:280.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,0.0:0,0:0,0:73,25:74,123:34,0:NM_003036.3(SKI) c.1475-76G>A,NM_003036.3(SKI) c.1475-76G>A:0.1,0.1:NOT_FOUND,NOT_FOUND 1 2236025 . G . . NT END=2237458;NT GT ./. 1 2236339 rs4648825 T C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8576,C/0.1424;Gene=SKI/NM_003036.3/1;CC=c.1767+315T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:160:18.38:0.00:18.38:1.00:0.00:1.00:60:44.8:0:0:133:18:16:NM_003036.3(SKI) c.1767+315T>C,NM_003036.3(SKI) c.1767+315T>C:0.15,0.15:NOT_FOUND,NOT_FOUND 1 2237248 rs11580302 A G 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8191,G/0.1809;Gene=SKI/NM_003036.3/1;CC=c.1768-211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:G:14:14:0:0:14:368:43.28:41.24:2.04:1.00:1.00:1.00:60:42.8:0:0:37:113:20:NM_003036.3(SKI) c.1768-211A>G,NM_003036.3(SKI) c.1768-211A>G:0.18,0.18:NOT_FOUND,NOT_FOUND 1 2237690 . G . . NT END=2238015;NT GT ./. 1 2238205 . A . . NT END=2252885;NT GT ./. 1 2253019 . C . . NT END=2253463;NT GT ./. 1 2253894 rs56393204 G A 243 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=G/0.9948,A/0.005192;NP=3;Gene=MORN1/NM_024848.2/1;CC=c.1298-876C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:172:104:0:0:78,94:2574,2886:243.12,0.00:92.10,0.00:151.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.7,7.6:0,0:0,0:93,69:51,75:29,31:NM_024848.1(MORN1) c.1298-876C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 2253995 . G GA 36 idl,rn VT=INS;SST=Single;DP=169;Gene=MORN1/NM_024848.2/1;CC=c.1298-978dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,C,G,GA,D:168:127:18:7:5,1,138,17,7:128,9,4393,545,222:6.06,-0.31,0.00,36.14,13.34:-0.43,-0.21,0.00,25.39,11.98:6.49,-0.10,0.00,10.75,1.37:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,47,60,60,60:119.0,227.0,19.2,22.4,5.3:3,0,0,1,0:0,0,0,0,0:97,101,64,58,67:54,14,80,86,83:21,0,35,22,15:-,NM_024848.1(MORN1) c.1298-978_1298-977insT:-,NOT_FOUND:-,NOT_FOUND 1 2254910 rs2645075 T C 696 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=190;DB;DBA=NA;PAF=T/0.1851,C/0.8149;Gene=MORN1/NM_024848.2/1;CC=c.1297+626A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:190:122:0:0:190:6056:695.55:359.58:335.97:1.00:1.00:1.00:60:40.5:0:0:73:78:36:NM_024848.1(MORN1) c.1297+626A>G,NM_024848.1(MORN1) c.1297+626A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 2255583 . C . . NT END=2267907;NT GT ./. 1 2267988 . C . . NT END=2268155;NT GT ./. 1 2268290 . C . . NT END=2286613;NT GT ./. 1 2268570 rs12091632 A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4938,G/0.5062;Gene=MORN1/NM_024848.2/1;CC=c.1037-281T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:176:20.46:0.00:20.46:1.00:0.00:1.00:60:73.5:0:0:95:49:9:NM_024848.1(MORN1) c.1037-281T>C,NM_024848.1(MORN1) c.1037-281T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 1 2268580 rs12085675 G A 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5186,A/0.4814;Gene=MORN1/NM_024848.2/1;CC=c.1037-291C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:138:16.15:0.00:16.15:1.00:0.00:1.00:60:76.0:0:0:101:50:8:NM_024848.1(MORN1) c.1037-291C>T,NM_024848.1(MORN1) c.1037-291C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 2286904 . C . . NT END=2288868;NT GT ./. 1 2286947 rs1039100 A G 281 nt VT=SNV;PN=T;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.117,G/0.883;Gene=MORN1/NM_024848.2/1;CC=c.1036+1924T>C;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.1037-44T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:38:0:0:78:2441:281.11:80.68:200.43:1.00:1.00:1.00:60:43.7:0:0:94:50:25:NM_024848.1(MORN1) c.1036+1924T>C,NM_024848.1(MORN1) c.1036+1924T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 2288747 rs2645086 T C 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4179,C/0.5821;Gene=MORN1/NM_024848.2/1;CC=c.1036+124A>G;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.1036+124A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:C,G:22:22:0:0:21,1:697,10:79.29,0.34:75.44,0.34:3.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.1,43.0:0,0:0,0:74,104:77,47:42,0:NM_024848.1(MORN1) c.1036+124A>G,NM_024848.1(MORN1) c.1036+124A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 2289038 . C . . NT END=2290025;NT GT ./. 1 2289321 rs903914 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.856,A/0.144;Gene=MORN1/NM_024848.2/1;CC=c.870-284C>T;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.870-284C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:136:15.93:0.00:15.93:1.00:0.00:1.00:60:57.8:0:0:128:23:18:NM_024848.1(MORN1) c.870-284C>T,NM_024848.1(MORN1) c.870-284C>T:0.15,0.15:NOT_FOUND,NOT_FOUND 1 2290155 . C . . NT END=2303918;NT GT ./. 1 2290288 rs2840544 T C 132 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.4285,C/0.5715;Gene=MORN1/NM_024848.2/1;CC=c.746-134A>G;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.746-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:7:0:0:38:1138:131.90:15.36:116.54:1.00:1.00:1.00:60:47.4:0:0:102:49:39:NM_024848.1(MORN1) c.746-134A>G,NM_024848.1(MORN1) c.746-134A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 2304031 . C . . NT END=2305898;NT GT ./. 1 2305997 . C . . NT END=2316415;NT GT ./. 1 2316315 rs2843126 A G 48 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4555,G/0.5445;Gene=MORN1/NM_024848.2/1;CC=c.537+102T>C;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.537+102T>C;VC=Intron;Gene=MORN1/NR_125361.1/0;VC=NonCoding;DM=MORN1/MORN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:33:0:0:16,17:539,503:0.00,48.47:0.00,46.99:0.00,1.48:0.00,1.00:0.00,1.00:0.00,0.90:60,60:19.6,33.8:0,0:0,0:38,52:113,99:27,42:-,NM_024848.1(MORN1) c.537+102T>C:-,0.54:-,NOT_FOUND 1 2316505 . C . . NT END=2317244;NT GT ./. 1 2317337 . C . . NT END=2318856;NT GT ./. 1 2318969 . C . . NT END=2319676;NT GT ./. 1 2319428 rs903903 A G 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6052,G/0.3948;Gene=MORN1/NM_024848.2/1;CC=c.247+250T>C;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.247+250T>C;VC=Intron;Gene=MORN1/NR_125361.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,G:9:9:0:0:1,8:28,278:0.00,30.25:0.00,30.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.0,67.8:0,0:0,0:16,28:121,122:0,9:-,NM_024848.1(MORN1) c.247+250T>C:-,0.45:-,NOT_FOUND 1 2319530 rs2645061 G T 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9924,T/0.007588;Gene=MORN1/NM_024848.2/1;CC=c.247+148C>A;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.247+148C>A;VC=Intron;Gene=MORN1/NR_125361.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,G,T:17:17:0:0:1,6,10:8,169,284:0.12,0.00,28.55:0.12,0.00,28.55:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:48.0,0.0,59.6:0,0,0:0,0,0:118,46,119:19,104,31:0,20,17:-,NM_024848.1(MORN1) c.247+148C>A:-,0.01:-,NOT_FOUND 1 2319777 . C . . NT END=2321362;NT GT ./. 1 2321436 . C . . NT END=2321903;NT GT ./. 1 2322191 rs531213654 CT C 19 idl,rn VT=DEL;SST=Single;DP=88;DB;DBA=NA;PAF=CT/0.9251,C/0.07488;DB;DBA=NA;PAF=CT/0.9251,C/0.07488;NP=1;PC=0.003;Gene=MORN1/NM_024848.2/1;CC=c.76+705delA;VC=Intron;Gene=MORN1/NM_001301060.1/0;CC=c.76+705delA;VC=Intron;Gene=MORN1/NR_125361.1/0;VC=NonCoding;DM=MORN1/MORN;DM=MORN1/MORN;DM=MORN1/MORN;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,CT,G,T,I,C:85:49:5:10:1,68,1,3,4,8:8,2225,9,79,155,333:-0.26,0.00,-0.24,4.13,7.87,19.18:-0.12,0.00,-0.12,-0.39,1.66,11.24:-0.14,0.00,-0.12,4.52,6.21,7.94:0.00,0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.00,0.00,0.99:60,60,60,60,60,70:90.0,19.3,62.0,104.0,1.8,19.6:0,0,0,2,1,2:0,0,0,0,0,0:52,99,62,67,120,81:89,43,78,83,31,64:0,26,0,9,12,26:-,NM_024848.1(MORN1) c.76+705delA:-,NOT_FOUND:-,NOT_FOUND 1 2322202 . t . . NT END=2322895;NT GT ./. 1 2323037 . G . . NT END=2327229;NT GT ./. 1 2323041 rs77804600 T C 202 nt VT=SNV;PN=G;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.8247,C/0.1753;PC=0.056;Gene=MORN1/NM_024848.2/1;CC=c.-69A>G;VC=5UTR;Gene=MORN1/NM_001301060.1/0;CC=c.-69A>G;VC=5UTR;Gene=MORN1/NR_125361.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:125:70:0:0:69,56:2064,1685:201.87,0.00:73.58,0.00:128.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,12.9:0,0:0,0:90,85:57,60:31,36:NM_007033.4(RER1) c.-191-u173T>C,-:0.2,-:NOT_FOUND,- 1 2327075 rs3736330 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7638,T/0.2362;Gene=RER1/NM_007033.4/1;CC=c.-7-148C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:C,T:12:12:0:0:7,5:225,166:0.00,15.45:0.00,15.45:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:13.1,52.8:0,0:0,0:30,59:121,91:23,6:-,NM_007033.4(RER1) c.-7-148C>T:-,0.27:-,NOT_FOUND 1 2327311 . G . . NT END=2328554;NT GT ./. 1 2328660 . G . . NT END=2330853;NT GT ./. 1 2328714 rs2645081 A G 93 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.1941,G/0.8059;Gene=RER1/NM_007033.4/1;CC=c.186+55A>G;VC=Intron;DM=RER1/Rer1;DM=RER1/Rer1;DM=RER1/Rer1;DM=RER1/Rer1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:2:0:0:24:812:92.65:3.88:88.77:1.00:1.00:1.00:60:38.8:0:0:94:56:32:NM_007033.4(RER1) c.186+55A>G,NM_007033.4(RER1) c.186+55A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 2330954 . G . . NT END=2332295;NT GT ./. 1 2332038 rs55912310 A G 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9155,G/0.08446;Gene=RER1/NM_007033.4/1;CC=c.287-258A>G;VC=Intron;DM=RER1/Rer1;DM=RER1/Rer1;DM=RER1/Rer1;DM=RER1/Rer1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G:8:8:0:0:5,3:162,87:0.00,7.83:0.00,7.83:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:7.0,33.3:0,0:0,0:53,95:97,56:36,3:-,NM_007033.4(RER1) c.287-258A>G:-,0.09:-,NOT_FOUND 1 2332375 . G . . NT END=2333645;NT GT ./. 1 2333782 . G . . NT END=2334473;NT GT ./. 1 2333944 rs78924098 T TC 55 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.2212,TC/0.7788;NP=1593;Gene=RER1/NM_007033.4/1;CC=c.501+166dupC;VC=Intron;DM=RER1/Rer1;DM=RER1/Rer1;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T,TC:17:0:16:0:1,16:22,495:0.00,55.48:0.00,0.00:0.00,55.48:0.00,1.00:0.00,0.00:0.00,1.00:60,60:70.0,4.9:1,0:0,0:34,96:117,54:0,34:NM_007033.4(RER1) c.501+163_501+164insC,NM_007033.4(RER1) c.501+163_501+164insC:0.81,0.81:NOT_FOUND,NOT_FOUND 1 2334564 . A . . NT END=2337204;NT GT ./. 1 2337032 rs1129171 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6935,G/.,T/0.3065;Gene=PEX10/NM_002617.3/0;CC=c.*173G>A;VC=3UTR;Gene=PEX10/NM_153818.1/1;CC=c.*173G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:9:9:0:0:3,6:106,183:0.00,18.67:0.00,18.67:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.3,30.5:0,0:0,0:44,38:107,113:18,30:-,NM_153818.1(PEX10) c.*173G>A:-,0.32:-,NOT_FOUND 1 2337274 . C . . NT END=2337922;NT GT ./. 1 2337277 rs11586985 C T 110 nt VT=SNV;PN=G;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.9191,T/0.08087;Gene=PEX10/NM_002617.3/0;CC=c.913-4G>A;VC=Intron;Gene=PEX10/NM_153818.1/1;CC=c.973-4G>A;VC=Intron;DM=PEX10/zf-C3HC4_3;DM=PEX10/zf-C3HC4_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:52:0:0:47,36:1532,1172:0.00,109.70:0.00,47.33:0.00,62.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,37.1:0,0:0,0:94,89:42,59:24,25:-,NM_153818.1(PEX10) c.973-4G>A:-,0.09:-,0.082048 1 2337537 rs2494426 C G 26 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.23,G/0.77;Gene=PEX10/NM_002617.3/0;CC=c.913-264G>C;VC=Intron;Gene=PEX10/NM_153818.1/1;CC=c.973-264G>C;VC=Intron;DM=PEX10/zf-C3HC4_3;DM=PEX10/zf-C3HC4_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:1:0:0:8:220:25.75:1.65:24.10:1.00:1.00:1.00:60:71.5:0:0:106:44:22:NM_153818.1(PEX10) c.973-264G>C,NM_153818.1(PEX10) c.973-264G>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 2337560 rs55746053 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9916,A/0.008387;PC=0.009;Gene=PEX10/NM_002617.3/0;CC=c.913-287C>T;VC=Intron;Gene=PEX10/NM_153818.1/1;CC=c.973-287C>T;VC=Intron;DM=PEX10/zf-C3HC4_3;DM=PEX10/zf-C3HC4_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:A,G:7:1:0:0:5,2:119,60:12.41,0.00:3.73,0.00:8.68,0.00:0.98,0.00:0.81,0.00:1.00,0.00:60,60:73.0,91.5:0,0:0,0:126,96:25,54:10,19:NM_153818.1(PEX10) c.973-287C>T,-:0.01,-:NOT_FOUND,- 1 2338059 . C . . NT END=2338158;NT GT ./. 1 2338395 . C . . NT END=2339890;NT GT ./. 1 2338569 rs2494427 T C 89 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.2292,C/0.7708;Gene=PEX10/NM_002617.3/0;CC=c.601-235A>G;VC=Intron;Gene=PEX10/NM_153818.1/1;CC=c.601-175A>G;VC=Intron;DM=PEX10/Pex2_Pex12;DM=PEX10/Pex2_Pex12;DM=PEX10/Pex2_Pex12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:0:0:0:26:763:88.58:0.00:88.58:1.00:0.00:1.00:60:52.0:0:0:104:46:25:NM_153818.1(PEX10) c.601-175A>G,NM_153818.1(PEX10) c.601-175A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 2340200 rs2494598 T C 157 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=120;DB;DBA=in-clinvar;PAF=T/0.3011,A/.,C/0.6989;Gene=PEX10/NM_002617.3/0;CC=c.291A>G;ProtCh=p.T97=;VC=Silent;Gene=PEX10/NM_153818.1/1;CC=c.291A>G;ProtCh=p.T97=;VC=Silent;DM=PEX10/Pex2_Pex12;DM=PEX10/Pex2_Pex12;DM=PEX10/Pex2_Pex12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:120:53:0:0:1,53,66:11,1668,2103:-0.13,156.56,0.00:-0.06,61.86,0.00:-0.07,94.70,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:198.0,37.3,7.6:0,0,0:0,0,0:102,88,79:49,63,70:0,37,33:NM_153818.1(PEX10) c.291A>G (p.(=)),-:0.73,-:0.743811,- 1 2340298 . C . . NT END=2341809;NT GT ./. 1 2340504 rs12092052 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7069,T/0.2931;Gene=PEX10/NM_002617.3/0;CC=c.194-207G>A;VC=Intron;Gene=PEX10/NM_153818.1/1;CC=c.194-207G>A;VC=Intron;DM=PEX10/Pex2_Pex12;DM=PEX10/Pex2_Pex12;DM=PEX10/Pex2_Pex12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:C,T:6:0:0:0:2,4:46,127:0.00,12.96:0.00,0.00:0.00,12.96:0.00,0.93:0.00,0.00:0.00,0.93:60,60:31.5,31.8:0,0:0,0:57,90:93,60:15,56:-,NM_153818.1(PEX10) c.194-207G>A:-,0.31:-,NOT_FOUND 1 2341891 . C . . NT END=2343829;NT GT ./. 1 2343942 . G . . NT END=2408027;NT GT ./. 1 2408152 . G . . NT END=2409914;NT GT ./. 1 2409892 rs12727342 A G 330 nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.2929,G/0.7071;Gene=PLCH2/NM_001303012.1/0;CC=c.44-23A>G;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.185-23A>G;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.125-23A>G;VC=Intron;DM=PLCH2/EF-hand_7;DM=PLCH2/PH_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:93:74:0:0:93:2855:329.67:197.94:131.73:1.00:1.00:1.00:60:41.5:0:0:64:83:33:NM_014638.2(PLCH2) c.125-23A>G,NM_014638.2(PLCH2) c.125-23A>G:0.69,0.69:0.66078,0.66078 1 2410062 . G . . NT END=2411172;NT GT ./. 1 2411416 . A . . NT END=2411620;NT GT ./. 1 2411451 rs10797428 A G 470 nt VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=A/0.3435,G/0.6565;Gene=PLCH2/NM_001303012.1/0;CC=c.434+35A>G;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.575+35A>G;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.515+35A>G;VC=Intron;DM=PLCH2/EF-hand_like;DM=PLCH2/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:130:77:0:0:130:4081:469.78:196.28:273.50:1.00:1.00:1.00:60:38.4:0:0:87:61:31:NM_014638.2(PLCH2) c.514+36A>G,NM_014638.2(PLCH2) c.514+36A>G:0.64,0.64:0.620752,0.620752 1 2411752 . G . . NT END=2415886;NT GT ./. 1 2416058 . G . . NT END=2418345;NT GT ./. 1 2418440 . G . . NT END=2418611;NT GT ./. 1 2418816 . G . . NT END=2419036;NT GT ./. 1 2418935 rs10910082 C T 139 nt VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.374,T/0.626;Gene=PLCH2/NM_001303012.1/0;CC=c.1034-102C>T;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.1175-102C>T;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.1115-102C>T;VC=Intron;DM=PLCH2/PI-PLC-X GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:80:56:0:0:1,35,44:11,1149,1414:-0.04,0.00,138.79:0.07,0.00,88.01:-0.11,0.00,50.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:212.0,3.2,43.3:0,0,0:0,0,0:45,32,46:86,117,105:0,20,30:-,NM_014638.2(PLCH2) c.1115-102C>T:-,0.62:-,NOT_FOUND 1 2419158 . G . . NT END=2420645;NT GT ./. 1 2420590 rs10752744 T C 170 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.1312,C/0.8688;Gene=PLCH2/NM_001303012.1/0;CC=c.1155-56T>C;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.1296-56T>C;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.1236-56T>C;VC=Intron;DM=PLCH2/PI-PLC-X GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:38:0:0:46:1483:170.22:118.19:52.03:1.00:1.00:1.00:60:42.4:0:0:29:121:17:NM_014638.2(PLCH2) c.1236-56T>C,NM_014638.2(PLCH2) c.1236-56T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 2420818 . G . . NT END=2421198;NT GT ./. 1 2420913 rs6668720 A G 125 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.3261,G/0.6739;Gene=PLCH2/NM_001303012.1/0;CC=c.1326+96A>G;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.1467+96A>G;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.1407+96A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:C,G:34:6:0:0:1,33:10,1096:0.24,124.91:0.00,16.54:0.24,108.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:168.0,35.9:0,0:0,0:100,81:51,68:0,34:NM_014638.2(PLCH2) c.1407+96A>G,NM_014638.2(PLCH2) c.1407+96A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 2421307 . G . . NT END=2422630;NT GT ./. 1 2422614 rs2477699 G A 306 nt VT=SNV;PN=G;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.248,A/0.752;Gene=PLCH2/NM_001303012.1/0;CC=c.1435-17G>A;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.1576-17G>A;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.1516-17G>A;VC=Intron;DM=PLCH2/PI-PLC-Y GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:83:69:0:0:83:2660:305.50:185.29:120.22:1.00:1.00:1.00:60:37.7:0:0:78:67:29:NM_014638.2(PLCH2) c.1516-17G>A,NM_014638.2(PLCH2) c.1516-17G>A:0.77,0.77:0.725479,0.725479 1 2422775 . G . . NT END=2426294;NT GT ./. 1 2426149 rs2182177 C A 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6206,A/0.3794;Gene=PLCH2/NM_001303012.1/0;CC=c.1579-146C>A;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.1720-146C>A;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.1660-146C>A;VC=Intron;DM=PLCH2/PI-PLC-Y GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:0:13:428:49.00:49.00:0.00:1.00:1.00:0.00:60:34.7:0:0:37:114:18:NM_014638.2(PLCH2) c.1660-146C>A,NM_014638.2(PLCH2) c.1660-146C>A:0.33,0.33:NOT_FOUND,NOT_FOUND 1 2426388 . G . . NT END=2426926;NT GT ./. 1 2426689 rs12022393 C T 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6204,T/0.3796;Gene=PLCH2/NM_001303012.1/0;CC=c.1672-238C>T;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.1813-238C>T;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.1753-238C>T;VC=Intron;DM=PLCH2/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:7:0:0:11:301:35.24:19.93:15.31:1.00:1.00:1.00:60:45.5:0:0:94:57:34:NM_014638.2(PLCH2) c.1753-238C>T,NM_014638.2(PLCH2) c.1753-238C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 2426766 rs3001347 A G 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6176,G/0.3824;Gene=PLCH2/NM_001303012.1/0;CC=c.1672-161A>G;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.1813-161A>G;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.1753-161A>G;VC=Intron;DM=PLCH2/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:14:0:0:7,7:207,189:0.00,17.95:0.00,17.95:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:17.7,38.4:0,0:0,0:27,52:116,97:24,47:-,NM_014638.2(PLCH2) c.1753-161A>G:-,0.45:-,NOT_FOUND 1 2427010 . G . . NT END=2428045;NT GT ./. 1 2428144 . G . . NT END=2428266;NT GT ./. 1 2428450 . G . . NT END=2428940;NT GT ./. 1 2428874 rs2477706 T C 182 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.153,C/0.847;Gene=PLCH2/NM_001303012.1/0;CC=c.2036-67T>C;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.2177-67T>C;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.2117-67T>C;VC=Intron;DM=PLCH2/PI-PLC-Y GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:C:49:45:0:0:49:1583:181.57:152.91:28.66:1.00:1.00:1.00:60:40.8:0:0:58:93:32:NM_014638.2(PLCH2) c.2117-67T>C,NM_014638.2(PLCH2) c.2117-67T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 2429049 . G . . NT END=2429961;NT GT ./. 1 2430087 . G . . NT END=2430182;NT GT ./. 1 2430268 . G . . NT END=2430522;NT GT ./. 1 2430670 . G . . NT END=2431079;NT GT ./. 1 2431057 rs2477707 C T 199 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.6066,T/0.3934;Gene=PLCH2/NM_001303012.1/0;CC=c.2501-23C>T;VC=Intron;Gene=PLCH2/NM_001303013.1/0;CC=c.2642-23C>T;VC=Intron;Gene=PLCH2/NM_014638.3/1;CC=c.2582-23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:T:53:47:0:0:53:1741:199.32:127.61:71.71:1.00:1.00:1.00:60:40.9:0:0:48:93:24:NM_014638.2(PLCH2) c.2582-23C>T,NM_014638.2(PLCH2) c.2582-23C>T:0.34,0.34:0.292299,0.292299 1 2431160 . G . . NT END=2433550;NT GT ./. 1 2433849 . G . . NT END=2435360;NT GT ./. 1 2436256 rs138038983 G A 578 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=162;DB;DBA=NA;PAF=G/0.9894,A/0.01058;Gene=PLCH2/NM_001303012.1/0;CC=c.*1190G>A;VC=3UTR;Gene=PLCH2/NM_001303013.1/0;CC=c.*832G>A;VC=3UTR;Gene=PLCH2/NM_014638.3/1;CC=c.3855G>A;ProtCh=p.G1285=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:162:104:0:0:161,1:5023,12:578.24,0.10:286.16,0.00:292.09,0.10:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,20.0:0,0:0,0:74,24:73,127:31,0:NM_014638.2(PLCH2) c.3855G>A (p.(=)),NM_014638.2(PLCH2) c.3855G>A (p.(=)):0.01,0.01:0.020888,0.020888 1 2436653 . C . . NT END=2440311;NT GT ./. 1 2436778 rs12219 A G 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5541,G/0.4459;Gene=PLCH2/NM_001303012.1/0;CC=c.*1712A>G;VC=3UTR;Gene=PLCH2/NM_001303013.1/0;CC=c.*1354A>G;VC=3UTR;Gene=PLCH2/NM_014638.3/1;CC=c.*126A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:0:0:0:19:587:67.72:0.00:67.72:1.00:0.00:1.00:60:45.8:0:0:96:52:38:NM_014638.2(PLCH2) c.*126A>G,NM_014638.2(PLCH2) c.*126A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 1 2440500 . C . . NT END=2441300;NT GT ./. 1 2441358 rs2494620 T C 249 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.5381,C/0.4619;Gene=PANK4/NM_018216.2/1;CC=c.2075A>G;ProtCh=p.Q692R;VC=Missense;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:A,C:75:54:0:0:1,74:21,2149:0.77,249.11:0.77,147.13:0.00,101.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:134.0,59.8:0,0:0,0:98,75:51,67:0,32:NM_018216.1(PANK4) c.2051A>G (p.Gln684Arg),NM_018216.1(PANK4) c.2051A>G (p.Gln684Arg):0.39,0.39:0.36988,0.36988 1 2441370 . C . . NT END=2441495;NT GT ./. 1 2441392 rs2494619 T C 223 nt VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.5379,C/0.4621;PC=0.005;Gene=PANK4/NM_018216.2/1;CC=c.2064-23A>G;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:C:62:42:0:0:62:1932:222.56:124.86:97.70:1.00:1.00:1.00:60:67.2:0:0:92:51:26:NM_018216.1(PANK4) c.2040-23A>G,NM_018216.1(PANK4) c.2040-23A>G:0.39,0.39:0.368474,0.368474 1 2441597 . C . . NT END=2442116;NT GT ./. 1 2441835 rs60181825 T TCCGATCGGC 12 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5387,TCCGATCGGC/0.4613;PC=0.001;Gene=PANK4/NM_018216.2/1;CC=c.1963-240_1963-239insGCCGATCGG;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:T,TCCGATCGGC:7:1:4:0:3,4:100,122:0.00,12.03:0.00,3.63:0.00,8.40:0.00,0.90:0.00,0.71:0.00,0.99:60,60:0.0,34.5:0,0:0,0:138,108:1,41:3,9:-,NM_018216.1(PANK4) c.1939-240_1939-239insGCCGATCGG:-,NOT_FOUND:-,NOT_FOUND 1 2442222 . C . . NT END=2442776;NT GT ./. 1 2442827 . C . . NT END=2443066;NT GT ./. 1 2442953 rs2236397 C A 101 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.62,A/0.38;Gene=PANK4/NM_018216.2/1;CC=c.1807+114G>T;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:A:31:13:0:0:31:863:100.88:43.34:57.54:1.00:1.00:1.00:60:37.8:0:0:54:97:41:NM_018216.1(PANK4) c.1783+114G>T,NM_018216.1(PANK4) c.1783+114G>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 2443123 . C . . NT END=2444326;NT GT ./. 1 2443212 rs2236396 G A 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6132,A/0.3868;Gene=PANK4/NM_018216.2/1;CC=c.1752-90C>T;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:3:0:0:12:397:45.42:7.75:37.67:1.00:1.00:1.00:60:64.9:0:0:88:57:25:NM_018216.1(PANK4) c.1728-90C>T,NM_018216.1(PANK4) c.1728-90C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 2444226 rs744112 C T 146 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.5391,T/0.4609;Gene=PANK4/NM_018216.2/1;CC=c.1751+101G>A;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C,T:43:42:0:0:1,42:7,1280:0.00,146.47:0.00,129.17:0.00,17.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.0,41.0:0,0:0,0:125,36:26,113:0,23:NM_018216.1(PANK4) c.1727+101G>A,NM_018216.1(PANK4) c.1727+101G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 1 2444479 . C . . NT END=2445440;NT GT ./. 1 2445406 rs2247308 A G 114 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.5371,G/0.4629;Gene=PANK4/NM_018216.2/1;CC=c.1599+35T>C;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:G:30:30:0:0:30:1000:114.26:96.31:17.95:1.00:1.00:1.00:60:40.9:0:0:64:86:30:NM_018216.1(PANK4) c.1575+35T>C,NM_018216.1(PANK4) c.1575+35T>C:0.39,0.39:0.371251,0.371251 1 2445529 . C . . NT END=2445792;NT GT ./. 1 2445906 . C . . NT END=2447000;NT GT ./. 1 2446880 rs2236395 A G 102 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.5369,G/0.4631;Gene=PANK4/NM_018216.2/1;CC=c.1398+121T>C;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:G:31:31:0:0:31:874:101.93:98.06:3.88:1.00:1.00:1.00:60:61.2:0:0:56:95:33:NM_018216.1(PANK4) c.1374+121T>C,NM_018216.1(PANK4) c.1374+121T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 1 2446960 rs2236394 T C 232 nt VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.5357,C/0.4643;PC=0.001;Gene=PANK4/NM_018216.2/1;CC=c.1398+41A>G;VC=Intron;DM=PANK4/DUF89;DM=PANK4/DUF89;DM=PANK4/DUF89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:C:66:54:0:0:66:2014:232.46:158.60:73.86:1.00:1.00:1.00:60:47.7:0:0:45:100:35:NM_018216.1(PANK4) c.1374+41A>G,NM_018216.1(PANK4) c.1374+41A>G:0.39,0.39:0.370729,0.370729 1 2447157 . C . . NT END=2449602;NT GT ./. 1 2449704 . C . . NT END=2449954;NT GT ./. 1 2450037 . C . . NT END=2450581;NT GT ./. 1 2450394 rs2246732 A G 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5355,G/0.4645;Gene=PANK4/NM_018216.2/1;CC=c.1059+188T>C;VC=Intron;DM=PANK4/DUF89;DM=PANK4/Fumble GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:6:0:0:8:270:30.82:22.96:7.85:1.00:1.00:1.00:60:36.0:0:0:46:104:38:NM_018216.1(PANK4) c.1035+188T>C,NM_018216.1(PANK4) c.1035+188T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 1 2450764 . C . . NT END=2451239;NT GT ./. 1 2451394 . C . . NT END=2451760;NT GT ./. 1 2451854 . C . . NT END=2452161;NT GT ./. 1 2452346 . C . . NT END=2452539;NT GT ./. 1 2452357 rs2494636 G A 206 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.5377,A/0.4623,C/.;Gene=PANK4/NM_018216.2/1;CC=c.447-12C>T;VC=Intron;DM=PANK4/Fumble;DM=PANK4/Fumble;DM=PANK4/Fumble GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:A:58:32:0:0:58:1781:205.65:83.91:121.75:1.00:1.00:1.00:60:43.4:0:0:92:55:29:NM_018216.1(PANK4) c.423-12C>T,NM_018216.1(PANK4) c.423-12C>T:0.39,0.39:0.371481,0.371481 1 2452444 rs4648643 A G 136 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.5751,G/0.4249;Gene=PANK4/NM_018216.2/1;CC=c.446+96T>C;VC=Intron;DM=PANK4/Fumble;DM=PANK4/Fumble;DM=PANK4/Fumble GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G,T:41:22:0:0:39,2:1188,16:136.34,0.48:68.00,0.00:68.34,0.48:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.0,65.5:0,0:0,0:73,57:78,93:36,16:NM_018216.1(PANK4) c.422+96T>C,NM_018216.1(PANK4) c.422+96T>C:0.36,0.36:NOT_FOUND,NOT_FOUND 1 2452569 rs2985862 T C 294 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.154,C/0.846;PC=0.999;Gene=PANK4/NM_018216.2/1;CC=c.417A>G;ProtCh=p.K139=;VC=Silent;DM=PANK4/Fumble;DM=PANK4/Fumble;DM=PANK4/Fumble GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:81:65:0:0:80,1:2581,13:294.15,0.00:180.56,0.00:113.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,34.0:0,0:0,0:47,90:95,58:25,0:NM_018216.1(PANK4) c.=,NM_018216.1(PANK4) c.=:0.84,0.84:0.795248,0.795248 1 2452755 . C . . NT END=2453156;NT GT ./. 1 2453240 . C . . NT END=2457902;NT GT ./. 1 2458053 . G . . NT END=2460907;NT GT ./. 1 2461451 . C . . NT END=2461549;NT GT ./. 1 2461604 . G . . NT END=2488103;NT GT ./. 1 2488153 rs4870 A G 387 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.3852,G/0.6148;Gene=LOC115110/NR_037844.2/0;VC=NonCoding;Gene=TNFRSF14/NM_001297605.1/0;CC=c.50A>G;ProtCh=p.K17R;VC=Missense;Gene=TNFRSF14/NM_003820.3/1;CC=c.50A>G;ProtCh=p.K17R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:103:70:0:0:1,102:34,3412:0.00,387.25:0.00,156.93:0.00,230.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,40.0:0,0:0,0:129,88:21,52:0,26:NM_003820.2(TNFRSF14) c.50A>G (p.Lys17Arg),NM_003820.2(TNFRSF14) c.50A>G (p.Lys17Arg):0.55,0.55:0.558027,0.558027 1 2488173 . G . . NT END=2489164;NT GT ./. 1 2489274 . G . . NT END=2489781;NT GT ./. 1 2489908 . G . . NT END=2490319;NT GT ./. 1 2490898 rs2257763 C A 608 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=C/0.3592,A/0.6408,T/.;Gene=TNFRSF14/NM_001297605.1/0;CC=c.305-364C>A;VC=Intron;Gene=TNFRSF14/NM_003820.3/1;CC=c.305-364C>A;VC=Intron;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:181:107:0:0:180,1:5231,13:607.69,0.13:300.21,0.00:307.48,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.4,103.0:0,0:0,0:73,96:75,54:38,0:NM_003820.2(TNFRSF14) c.305-364C>A,NM_003820.2(TNFRSF14) c.305-364C>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 2490942 rs2281852 C A 763 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=207;DB;DBA=NA;PAF=C/0.4022,A/0.5978,T/.;Gene=TNFRSF14/NM_001297605.1/0;CC=c.305-320C>A;VC=Intron;Gene=TNFRSF14/NM_003820.3/1;CC=c.305-320C>A;VC=Intron;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:207:124:0:0:207:6643:762.58:341.76:420.81:1.00:1.00:1.00:60:67.1:0:0:64:81:38:NM_003820.2(TNFRSF14) c.305-320C>A,NM_003820.2(TNFRSF14) c.305-320C>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 2491199 . C . . NT END=2491261;NT GT ./. 1 2491205 rs2234161 C T 984 nt VT=SNV;PN=C;NN=G;SST=Single;DP=262;DB;DBA=NA;PAF=C/0.356,T/0.644;Gene=TNFRSF14/NM_001297605.1/0;CC=c.305-57C>T;VC=Intron;Gene=TNFRSF14/NM_003820.3/1;CC=c.305-57C>T;VC=Intron;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6;DM=TNFRSF14/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:262:167:0:0:262:8596:984.18:485.88:498.30:1.00:1.00:1.00:60:42.3:0:0:84:64:35:NM_003820.2(TNFRSF14) c.305-57C>T,NM_003820.2(TNFRSF14) c.305-57C>T:0.58,0.58:NOT_FOUND,NOT_FOUND 1 2491418 . G . . NT END=2492062;NT GT ./. 1 2492154 . G . . NT END=2492932;NT GT ./. 1 2493255 . G . . NT END=2494303;NT GT ./. 1 2494336 . G . . NT END=2494586;NT GT ./. 1 2494713 . C . . NT END=2518234;NT GT ./. 1 2494785 rs8725 G A 234 nt VT=SNV;PN=G;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.368,A/0.632,C/.,T/.;Gene=TNFRSF14/NM_001297605.1/0;CC=c.*227G>A;VC=3UTR;Gene=TNFRSF14/NM_003820.3/1;CC=c.*73G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:A,T:68:20:0:0:67,1:2031,7:234.29,0.07:44.28,0.00:190.01,0.07:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,206.0:0,0:0,0:115,97:33,54:23,0:NM_003820.2(TNFRSF14) c.*73G>A,NM_003820.2(TNFRSF14) c.*73G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 2518186 rs10752746 A G 409 nt VT=SNV;PN=C;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=54;Gene=FAM213B/NR_036637.1/0;VC=NonCoding;Gene=FAM213B/NR_036638.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:125:111:0:1:1,1,123:10,11,3533:0.00,0.10,409.16:0.00,0.00,315.80:0.00,0.10,93.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:63.0,114.0,53.5:0,0,0:0,0,0:44,31,52:88,115,87:0,0,36:NM_001195736.1(FAM213B) c.-46-u3A>G,NM_001195736.1(FAM213B) c.-46-u3A>G:1,1:NOT_FOUND,NOT_FOUND 1 2518388 . G . . NT END=2518529;NT GT ./. 1 2518735 . G . . NT END=2519179;NT GT ./. 1 2519232 . G . . NT END=2519774;NT GT ./. 1 2519267 . T G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;Gene=FAM213B/NR_036637.1/0;VC=NonCoding;Gene=FAM213B/NR_036638.1/0;VC=NonCoding;Gene=FAM213B/NM_001195736.1/0;CC=c.410+36T>G;VC=Intron;Gene=FAM213B/NM_001195737.1/0;CC=c.410+36T>G;VC=Intron;Gene=FAM213B/NM_001195738.1/1;CC=c.410+36T>G;VC=Intron;Gene=FAM213B/NM_001195740.1/0;CC=c.410+36T>G;VC=Intron;Gene=FAM213B/NM_001195741.1/0;CC=c.410+36T>G;VC=Intron;Gene=FAM213B/NM_152371.3/0;CC=c.410+36T>G;VC=Intron;DM=FAM213B/AhpC-TSA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:G,T:51:33:0:0:6,45:119,1227:6.83,0.00:-1.23,0.00:8.06,0.00:0.85,0.00:0.95,0.00:0.97,0.00:60,60:144.3,21.6:0,0:0,0:91,108:46,35:14,28:NM_001195736.1(FAM213B) c.410+36T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 2519893 . G . . NT END=2519968;NT GT ./. 1 2520065 . G . . NT END=2520360;NT GT ./. 1 2520302 rs6667564 T C 133 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.4393,C/0.5607;Gene=FAM213B/NR_036637.1/0;VC=NonCoding;Gene=FAM213B/NR_036638.1/0;VC=NonCoding;Gene=FAM213B/NM_001195736.1/0;CC=c.605-59T>C;VC=Intron;Gene=FAM213B/NM_001195737.1/0;CC=c.571-91T>C;VC=Intron;Gene=FAM213B/NM_001195738.1/1;CC=c.551-91T>C;VC=Intron;Gene=FAM213B/NM_001195740.1/0;CC=c.475-91T>C;VC=Intron;Gene=FAM213B/NM_001195741.1/0;CC=c.475-94T>C;VC=Intron;Gene=FAM213B/NM_152371.3/0;CC=c.551-59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:32:0:0:37:1154:133.01:103.70:29.31:1.00:1.00:1.00:60:38.1:0:0:45:106:37:NM_001195736.1(FAM213B) c.605-59T>C,NM_001195736.1(FAM213B) c.605-59T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 2520480 . G . . NT END=2520848;NT GT ./. 1 2520500 rs6701238 G A 167 nt VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.4411,A/0.5589;Gene=FAM213B/NR_036637.1/0;VC=NonCoding;Gene=FAM213B/NR_036638.1/0;VC=NonCoding;Gene=FAM213B/NM_001195736.1/0;CC=c.723+21G>A;VC=Intron;Gene=FAM213B/NM_001195737.1/0;CC=c.657+21G>A;VC=Intron;Gene=FAM213B/NM_001195738.1/1;CC=c.637+21G>A;VC=Intron;Gene=FAM213B/NM_001195740.1/0;CC=c.561+21G>A;VC=Intron;Gene=FAM213B/NM_001195741.1/0;CC=c.558+21G>A;VC=Intron;Gene=FAM213B/NM_152371.3/0;CC=c.669+21G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A:49:20:0:0:49:1437:166.91:47.83:119.08:1.00:1.00:1.00:60:56.4:0:0:111:38:29:NM_001195736.1(FAM213B) c.723+21G>A,NM_001195736.1(FAM213B) c.723+21G>A:0.49,0.49:0.476304,0.476304 1 2520527 rs6670198 T C 126 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4407,C/0.5593;PC=0.022;Gene=FAM213B/NR_036637.1/0;VC=NonCoding;Gene=FAM213B/NR_036638.1/0;VC=NonCoding;Gene=FAM213B/NM_001195736.1/0;CC=c.723+48T>C;VC=Intron;Gene=FAM213B/NM_001195737.1/0;CC=c.657+48T>C;VC=Intron;Gene=FAM213B/NM_001195738.1/1;CC=c.637+48T>C;VC=Intron;Gene=FAM213B/NM_001195740.1/0;CC=c.561+48T>C;VC=Intron;Gene=FAM213B/NM_001195741.1/0;CC=c.558+48T>C;VC=Intron;Gene=FAM213B/NM_152371.3/0;CC=c.669+48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:C:36:11:0:0:36:1088:125.71:28.39:97.32:1.00:1.00:1.00:60:68.5:0:0:101:49:30:NM_001195736.1(FAM213B) c.723+48T>C,NM_001195736.1(FAM213B) c.723+48T>C:0.49,0.49:0.472736,0.472736 1 2520867 . G . . NT END=2522428;NT GT ./. 1 2522529 . C . . NT END=2522995;NT GT ./. 1 2523073 . C . . NT END=2523370;NT GT ./. 1 2523212 rs876938 G C 94 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.5012,C/0.4988;Gene=MMEL1/NM_033467.3/1;CC=c.2164-140C>G;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:7:0:0:25:819:93.82:26.64:67.18:1.00:1.00:1.00:60:56.2:0:0:104:42:28:NM_033467.3(MMEL1) c.2164-140C>G,NM_033467.3(MMEL1) c.2164-140C>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 2523467 . C . . NT END=2524093;NT GT ./. 1 2523660 rs5772070 CG C 45 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CG/0.2847,C/0.7153;DB;DBA=NA;PAF=CG/0.2847,C/0.7153;NP=35;Gene=MMEL1/NM_033467.3/1;CC=c.2068-195delC;VC=Intron;DM=MMEL1/Peptidase_M13;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CG,C:16:6:0:13:3,13:85,417:0.00,44.55:0.00,17.67:0.00,26.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,46.0:0,0:0,0:146,83:4,67:0,23:-,NM_033467.3(MMEL1) c.2068-195delC:-,NOT_FOUND:-,NOT_FOUND 1 2523706 rs867435 C T 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5002,T/0.4998;Gene=MMEL1/NM_033467.3/1;CC=c.2068-240G>A;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:3:0:0:9:299:34.19:12.13:22.06:1.00:1.00:1.00:60:66.4:0:0:119:32:28:NM_033467.3(MMEL1) c.2068-240G>A,NM_033467.3(MMEL1) c.2068-240G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 2523723 rs867436 C T 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4886,T/0.5114;PC=0.001;Gene=MMEL1/NM_033467.3/1;CC=c.2068-257G>A;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:3:0:0:7:219:25.24:10.13:15.11:1.00:1.00:1.00:60:69.6:0:0:130:21:15:NM_033467.3(MMEL1) c.2068-257G>A,NM_033467.3(MMEL1) c.2068-257G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 2523993 rs187759598 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4675,A/0.5325;Gene=MMEL1/NM_033467.3/1;CC=c.2067+101C>T;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:129:14.81:3.68:11.13:1.00:1.00:1.00:60:94.2:0:0:12:130:7:NM_033467.3(MMEL1) c.2067+101C>T,NM_033467.3(MMEL1) c.2067+101C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 1 2523999 rs193231151 G A 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4677,A/0.5323;Gene=MMEL1/NM_033467.3/1;CC=c.2067+95C>T;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:1:0:0:4:66:8.40:3.78:4.62:1.00:1.00:1.00:60:94.2:0:0:18:124:7:NM_033467.3(MMEL1) c.2067+95C>T,NM_033467.3(MMEL1) c.2067+95C>T:0.48,0.48:NOT_FOUND,NOT_FOUND 1 2524024 rs374695686 ACCCCCTCCCCTGCCGCGCTGACG A 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;Gene=MMEL1/NM_033467.3/1;CC=c.2067+47_2067+69delCGTCAGCGCGGCAGGGGAGGGGG;VC=Intron;DM=MMEL1/Peptidase_M13;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:5:5:118:14.17:4.54:9.63:1.00:1.00:1.00:60:79.0:0:0:38:102:11:NM_033467.3(MMEL1) c.2067+47_2067+69delCGTCAGCGCGGCAGGGGAGGGGG,NM_033467.3(MMEL1) c.2067+47_2067+69delCGTCAGCGCGGCAGGGGAGGGGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2524160 . C . . NT END=2524271;NT GT ./. 1 2524205 rs745368 C T 366 nt VT=SNV;PN=C;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.5026,T/0.4974;Gene=MMEL1/NM_033467.3/1;CC=c.2002-46G>A;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:97:76:0:0:97:3203:366.41:205.96:160.46:1.00:1.00:1.00:60:45.3:0:0:82:69:31:NM_033467.3(MMEL1) c.2002-46G>A,NM_033467.3(MMEL1) c.2002-46G>A:0.43,0.43:0.403538,0.403538 1 2524406 . C . . NT END=2525252;NT GT ./. 1 2524457 rs745367 T C 302 nt VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.4607,C/0.5393;Gene=MMEL1/NM_033467.3/1;CC=c.1868-52A>G;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:85:53:0:0:85:2615:301.72:111.53:190.18:1.00:1.00:1.00:60:63.4:0:0:101:46:22:NM_033467.3(MMEL1) c.1868-52A>G,NM_033467.3(MMEL1) c.1868-52A>G:0.48,0.48:0.458597,0.458597 1 2524485 rs1555790 C T 293 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.7274,T/0.2726;Gene=MMEL1/NM_033467.3/1;CC=c.1868-80G>A;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:77:37:0:0:77:2566:293.27:81.31:211.96:1.00:1.00:1.00:60:72.4:0:0:109:35:25:NM_033467.3(MMEL1) c.1868-80G>A,NM_033467.3(MMEL1) c.1868-80G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 1 2524966 rs3748819 C T 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4742,T/0.5258;Gene=MMEL1/NM_033467.3/1;CC=c.1867+287G>A;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:228:26.14:26.14:0.00:1.00:1.00:0.00:60:56.4:0:0:18:133:5:NM_033467.3(MMEL1) c.1867+287G>A,NM_033467.3(MMEL1) c.1867+287G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 2525373 . C . . NT END=2525823;NT GT ./. 1 2525660 rs3748818 G A 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5162,A/0.4838;Gene=MMEL1/NM_033467.3/1;CC=c.1747+164C>T;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:12:0:0:18:587:67.26:42.99:24.26:1.00:1.00:1.00:60:75.7:0:0:63:88:34:NM_033467.3(MMEL1) c.1747+164C>T,NM_033467.3(MMEL1) c.1747+164C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 2525665 rs3748817 T C 73 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4603,C/0.5397;Gene=MMEL1/NM_033467.3/1;CC=c.1747+159A>G;VC=Intron;DM=MMEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:13:0:0:19:636:72.66:51.20:21.46:1.00:1.00:1.00:60:73.3:0:0:67:84:37:NM_033467.3(MMEL1) c.1747+159A>G,NM_033467.3(MMEL1) c.1747+159A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 2525883 . C . . NT END=2526228;NT GT ./. 1 2526333 . C . . NT END=2526714;NT GT ./. 1 2526746 rs3748816 A G 250 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.4587,G/0.5413;Gene=MMEL1/NM_033467.3/1;CC=c.1553T>C;ProtCh=p.M518T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:50:0:0:69:2172:249.92:119.12:130.80:1.00:1.00:1.00:60:42.4:0:0:64:77:33:NM_033467.3(MMEL1) c.1553T>C (p.Met518Thr),NM_033467.3(MMEL1) c.1553T>C (p.Met518Thr):0.48,0.48:0.453175,0.453175 1 2526799 . C . . NT END=2527447;NT GT ./. 1 2527547 . C . . NT END=2527999;NT GT ./. 1 2528129 . C . . NT END=2529645;NT GT ./. 1 2529740 . C . . NT END=2530092;NT GT ./. 1 2530230 . C . . NT END=2535322;NT GT ./. 1 2535092 rs35090174 ACT A 17 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=ACT/0.5218,A/0.4782;NP=46;Gene=MMEL1/NM_033467.3/1;CC=c.1041+229_1041+230delAG;VC=Intron;DM=MMEL1/Peptidase_M13_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:5:5:147:17.08:17.08:0.00:1.00:1.00:0.00:60:14.4:0:0:23:128:6:NM_033467.3(MMEL1) c.1041+229_1041+230delAG,NM_033467.3(MMEL1) c.1041+229_1041+230delAG:0.42,0.42:NOT_FOUND,NOT_FOUND 1 2535413 . C . . NT END=2535585;NT GT ./. 1 2535613 rs4648562 C A 462 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.504,A/0.496;PC=0.994;Gene=MMEL1/NM_033467.3/1;CC=c.924G>T;ProtCh=p.V308=;VC=Silent;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:130:68:0:0:130:4000:461.57:182.82:278.75:1.00:1.00:1.00:60:39.9:0:0:51:95:22:NM_033467.3(MMEL1) c.924G>T (p.(=)),NM_033467.3(MMEL1) c.924G>T (p.(=)):0.43,0.43:0.403645,0.403645 1 2535721 . C . . NT END=2536996;NT GT ./. 1 2535758 rs4648652 A G 331 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.4607,G/0.5393;Gene=MMEL1/NM_033467.3/1;CC=c.817-38T>C;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:95:44:0:0:1,1,93:10,5,2894:0.00,0.02,331.44:0.00,-0.00,98.88:0.00,0.03,232.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:44.0,127.0,41.3:0,0,0:0,0,0:72,56,94:79,93,55:0,0,30:NM_033467.3(MMEL1) c.817-38T>C,NM_033467.3(MMEL1) c.817-38T>C:0.47,0.47:0.451171,0.451171 1 2535895 rs4648653 C T 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5054,T/0.4946;Gene=MMEL1/NM_033467.3/1;CC=c.817-175G>A;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:0:0:0:23:728:83.72:0.00:83.72:1.00:0.00:1.00:60:49.4:0:0:93:58:36:NM_033467.3(MMEL1) c.817-175G>A,NM_033467.3(MMEL1) c.817-175G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 2536002 rs4648563 C G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5032,G/0.4968;Gene=MMEL1/NM_033467.3/1;CC=c.817-282G>C;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:1:0:0:9:297:33.99:2.04:31.95:1.00:1.00:1.00:60:57.8:0:0:85:65:30:NM_033467.3(MMEL1) c.817-282G>C,NM_033467.3(MMEL1) c.817-282G>C:0.43,0.43:NOT_FOUND,NOT_FOUND 1 2537063 . C . . NT END=2537686;NT GT ./. 1 2537095 rs78506337 G A 135 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4916,A/0.5084;Gene=MMEL1/NM_033467.3/1;CC=c.751-33C>T;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:25:0:0:37:1175:135.03:57.80:77.23:1.00:1.00:1.00:60:44.2:0:0:100:51:27:NM_033467.3(MMEL1) c.751-33C>T,NM_033467.3(MMEL1) c.751-33C>T:0.45,0.45:0.417705,0.417705 1 2537464 rs4074789 A G 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4597,G/0.5403;Gene=MMEL1/NM_033467.3/1;CC=c.750+223T>C;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:250:28.80:28.80:0.00:1.00:1.00:0.00:60:45.6:0:0:40:110:32:NM_033467.3(MMEL1) c.750+223T>C,NM_033467.3(MMEL1) c.750+223T>C:0.48,0.48:NOT_FOUND,NOT_FOUND 1 2537806 . C . . NT END=2538412;NT GT ./. 1 2537838 rs41300092 C T 263 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.524,T/0.476;PC=0.003;Gene=MMEL1/NM_033467.3/1;CC=c.632-33G>A;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:75:36:0:0:1,74:8,2286:0.08,263.34:0.00,80.49:0.08,182.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,41.4:0,0:0,0:5,100:146,50:0,28:NM_033467.3(MMEL1) c.632-33G>A,NM_033467.3(MMEL1) c.632-33G>A:0.42,0.42:0.378984,0.378984 1 2538209 rs10910105 G A 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5244,A/0.4756;Gene=MMEL1/NM_033467.3/1;CC=c.631+204C>T;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:222:25.98:25.98:0.00:1.00:1.00:0.00:60:45.1:0:0:63:87:47:NM_033467.3(MMEL1) c.631+204C>T,NM_033467.3(MMEL1) c.631+204C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 2538349 rs34204395 G A 146 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.524,A/0.476;DB;DBA=NA;PAF=NA;Gene=MMEL1/NM_033467.3/1;CC=c.631+64C>T;VC=Intron;DM=MMEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:40:0:0:41:1269:146.26:127.59:18.66:1.00:1.00:1.00:60:41.3:0:0:61:90:41:NM_033467.3(MMEL1) c.631+64C>T,NM_033467.3(MMEL1) c.631+64C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 2538509 . C . . NT END=2540777;NT GT ./. 1 2540473 rs142949208 TACACACACACAC T 11 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;Gene=MMEL1/NM_033467.3/1;CC=c.535+293_535+304delGTGTGTGTGTGT;VC=Intron;DM=MMEL1/Peptidase_M13_N;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:TACACACACACAC,T:6:6:0:4:2,4:59,111:0.00,11.34:0.00,11.34:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:16.5,22.8:0,0:0,0:113,56:17,95:26,18:-,NM_033467.3(MMEL1) c.535+293_535+304delGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 2540859 . C . . NT END=2541108;NT GT ./. 1 2541269 rs10797440 A G 275 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.4685,G/0.5315;PC=0.174;Gene=MMEL1/NM_033467.3/1;CC=c.294T>C;ProtCh=p.A98=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:45:0:0:80:2375:275.02:95.61:179.41:1.00:1.00:1.00:60:43.4:0:0:86:60:37:NM_033467.3(MMEL1) c.294T>C (p.(=)),NM_033467.3(MMEL1) c.294T>C (p.(=)):0.47,0.47:0.441258,0.441258 1 2541271 . C . . NT END=2542719;NT GT ./. 1 2542653 rs10910111 A G 194 nt VT=SNV;PN=T;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.4611,G/0.5389;Gene=MMEL1/NM_033467.3/1;CC=c.292+67T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G:50:45:0:0:50:1701:193.94:154.07:39.87:1.00:1.00:1.00:60:40.1:0:0:51:99:34:NM_033467.3(MMEL1) c.292+67T>C,NM_033467.3(MMEL1) c.292+67T>C:0.47,0.47:0.42873,0.42873 1 2542780 . C . . NT END=2543565;NT GT ./. 1 2543644 . C . . NT END=2560769;NT GT ./. 1 2560961 . C . . NT END=2564304;NT GT ./. 1 2564012 rs11486042 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5523,A/0.4477;Gene=MMEL1/NM_033467.3/1;CC=c.-38+293C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:147:17.05:17.05:0.00:1.00:1.00:0.00:60:55.6:0:0:62:87:34:NM_033467.3(MMEL1) c.-38+293C>T,NM_033467.3(MMEL1) c.-38+293C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 1 2564490 . G . . NT END=2572806;NT GT ./. 1 2573199 rs4648662 A G 642 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=A/0.0653,G/0.9347;PC=0.995;Gene=TTC34/NM_001242672.1/1;CC=c.1309T>C;ProtCh=p.L437=;VC=Silent;DM=TTC34/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:170:106:0:0:1,169:9,5622:0.05,641.95:0.00,282.31:0.05,359.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.0,38.9:0,0:0,0:13,71:138,65:0,36:NM_001242672.1(TTC34) c.1309T>C (p.(=)),NM_001242672.1(TTC34) c.1309T>C (p.(=)):0.92,0.92:NOT_FOUND,NOT_FOUND 1 2573335 . C . . NT END=2575702;NT GT ./. 1 2575918 . C . . NT END=2576731;NT GT ./. 1 2577003 . C . . NT END=2700153;NT GT ./. 1 2583647 rs56211940 C A 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;PC=0.001;Gene=TTC34/NM_001242672.1/1;CC=c.688-6645G>T;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,C:5:4:0:0:2,3:69,98:6.39,0.00:6.73,0.00:-0.33,0.00:0.46,0.00:0.87,0.00:0.70,0.00:53,60:209.5,186.0:0,0:0,0:29,47:98,98:9,12:NM_001242672.1(TTC34) c.688-6645G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 2583650 rs61765777 A G 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=38;Gene=TTC34/NM_001242672.1/1;CC=c.688-6648T>C;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,G:5:4:0:0:2,3:43,105:0.00,10.48:0.00,11.07:0.00,-0.58:0.00,0.78:0.00,0.97:0.00,0.87:60,55:185.5,202.0:0,0:0,0:56,23:84,109:6,15:-,NM_001242672.1(TTC34) c.688-6648T>C:-,NOT_FOUND:-,NOT_FOUND 1 2583698 . T G 7 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;NP=7;Gene=TTC34/NM_001242672.1/1;CC=c.688-6696A>C;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:G,T:7:6:0:0:3,4:78,136:7.14,0.00:6.33,0.00:0.81,0.00:0.69,0.00:0.95,0.00:0.93,0.00:53,60:184.7,167.2:0,0:0,0:71,83:61,47:19,21:NM_001242672.1(TTC34) c.688-6696A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 2583799 rs28581291 G C 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=118;Gene=TTC34/NM_001242672.1/1;CC=c.688-6797C>G;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:5:0:0:10:288:33.54:11.20:22.34:1.00:1.00:1.00:70:160.2:0:0:89:55:19:NM_001242672.1(TTC34) c.688-6797C>G,NM_001242672.1(TTC34) c.688-6797C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2583805 rs150959673 C G 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=50;Gene=TTC34/NM_001242672.1/1;CC=c.688-6803G>C;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,T:10:5:0:0:9,1:201,13:23.83,0.82:5.88,0.82:17.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,39:159.2,203.0:0,0:0,0:94,101:53,46:24,0:NM_001242672.1(TTC34) c.688-6803G>C,NM_001242672.1(TTC34) c.688-6803G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2583883 rs111991463 C A 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=22;Gene=TTC34/NM_001242672.1/1;CC=c.688-6881G>T;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,C:7:1:0:0:3,4:71,117:6.43,0.00:3.51,0.00:2.92,0.00:0.69,0.00:0.62,0.00:0.95,0.00:60,51:158.7,217.8:0,0:0,0:137,85:7,55:5,20:NM_001242672.1(TTC34) c.688-6881G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 2584761 rs57267388 A C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=20;Gene=TTC34/NM_001242672.1/1;CC=c.688-7759T>G;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C,G:4:4:0:0:1,2,1:34,66,29:0.00,6.65,2.65:0.00,3.33,2.71:0.00,3.33,-0.06:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.89,0.00:37,33,51:196.0,184.5,156.0:0,0,0:0,0,0:26,61,4:65,54,146:0,6,0:-,NM_001242672.1(TTC34) c.688-7759T>G:-,NOT_FOUND:-,NOT_FOUND 1 2585490 rs28411086 A C 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=106;Gene=TTC34/NM_001242672.1/1;CC=c.688-8488T>G;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:110:12.89:6.39:6.50:1.00:1.00:1.00:40:183.5:0:0:38:100:15:NM_001242672.1(TTC34) c.688-8488T>G,NM_001242672.1(TTC34) c.688-8488T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2585511 rs58674099 G A 8 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10;Gene=TTC34/NM_001242672.1/1;CC=c.688-8509C>T;VC=Intron;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:2:0:0:3,1:78,33:8.21,0.00:1.01,0.00:7.20,0.00:0.85,0.00:0.95,0.00:0.99,0.00:40,22:202.0,197.0:0,0:0,0:51,63:83,76:14,0:NM_001242672.1(TTC34) c.688-8509C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 2629193 rs28733941 G C,T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=107;NP=230;DM=TTC34/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:C,G,T:7:5:0:0:5,1,1:159,30,33:17.01,0.00,2.87:5.30,0.00,1.40:11.71,0.00,1.47:0.98,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,45,58:153.2,63.0,100.0:0,0,0:0,0,0:73,37,20:65,114,109:53,0,0:NM_001242672.1(TTC34) c.688-52191C>G,NM_001242672.1(TTC34) c.688-52191C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 2700321 . C . . NT END=2702383;NT GT ./. 1 2700372 rs4648390 C T 324 nt VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.7232,T/0.2768;PC=0.004;Gene=TTC34/NM_001242672.1/1;CC=c.521-52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:88:34:0:0:88:2820:323.94:71.72:252.21:1.00:1.00:1.00:60:39.1:0:0:96:51:32:NM_001242672.1(TTC34) c.521-52G>A,NM_001242672.1(TTC34) c.521-52G>A:0.23,0.23:NOT_FOUND,NOT_FOUND 1 2702589 . C . . NT END=2704045;NT GT ./. 1 2704272 . C . . NT END=2706067;NT GT ./. 1 2706157 . C . . NT END=2938250;NT GT ./. 1 2843346 rs28444230 T G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:G,T:12:9:0:0:5,7:120,180:10.82,0.00:3.70,0.00:7.12,0.00:0.92,0.00:0.98,0.00:0.98,0.00:60,60:130.6,34.3:0,0:0,0:67,64:55,68:8,25:chr1 g.2843345T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 2843428 rs28376504 C A 8 end,nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5533,A/0.4467;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,C:8:3:0:0:3,5:93,149:8.44,0.00:1.37,0.00:7.07,0.00:0.67,0.00:0.78,0.00:0.95,0.00:60,60:123.7,47.4:0,0:0,0:141,121:-17,28:1,10:chr1 g.2843427C>A (intergenic),-:0.37,-:NOT_FOUND,- 1 2843477 rs28454301 A G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4994,G/0.5006;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G:4:2:0:0:2,2:44,71:0.00,6.86:0.00,5.56:0.00,1.29:0.00,0.51:0.00,0.79:0.00,0.89:60,60:30.0,57.0:0,0:0,0:124,56:14,95:9,26:-,chr1 g.2843476A>G (intergenic):-,0.46:-,NOT_FOUND 1 2939385 . A . . NT END=2985823;NT GT ./. 1 2985542 rs560546575 AG A 19 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AG/0.3219,A/0.6781;DB;DBA=NA;PAF=AG/0.3219,A/0.6781;NP=19;PC=0.954;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:AG,A:7:8:0:7:1,6:27,204:0.00,18.90:0.00,18.90:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,58.2:0,1:0,0:119,29:11,112:0,19:-,NM_022114.3(PRDM16) c.-82-u199delG:-,NOT_FOUND:-,NOT_FOUND 1 2985861 . G . . NT END=3102688;NT GT ./. 1 2985885 rs7413494 C G 205 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.6398,A/.,G/0.3602;PC=0.860;Gene=PRDM16/NM_022114.3/1;CC=c.37+25C>G;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.37+25C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:29:0:0:53:1795:204.75:57.22:147.53:1.00:1.00:1.00:60:42.4:0:0:107:33:20:NM_022114.3(PRDM16) c.37+25C>G,NM_022114.3(PRDM16) c.37+25C>G:0.34,0.34:0.304513,0.304513 1 3103039 . G . . NT END=3160650;NT GT ./. 1 3160702 . G . . NT END=3301712;NT GT ./. 1 3252104 rs2483278 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2324,T/0.7676;PC=0.974;Gene=PRDM16/NM_022114.3/1;CC=c.439-49612C>T;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.439-49612C>T;VC=Intron;DM=PRDM16/SET;DM=PRDM16/SET;DM=PRDM16/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:6:5:0:0:2,4:70,122:0.00,12.45:0.00,9.05:0.00,3.40:0.00,0.93:0.00,0.99:0.00,0.78:60,60:12.5,38.5:0,0:0,0:73,24:77,124:21,23:-,NM_022114.3(PRDM16) c.439-49612C>T:-,0.76:-,NOT_FOUND 1 3301851 . G . . NT END=3313054;NT GT ./. 1 3312963 rs12726710 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9065,T/0.09345;Gene=PRDM16/NM_022114.3/1;CC=c.574-92C>T;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.574-92C>T;VC=Intron;DM=PRDM16/SET;DM=PRDM16/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:15:15:0:0:9,6:320,171:0.00,15.58:0.00,15.58:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:4.4,53.7:0,0:0,0:98,58:52,93:10,13:-,NM_022114.3(PRDM16) c.574-92C>T:-,0.12:-,NOT_FOUND 1 3313158 . G . . NT END=3319354;NT GT ./. 1 3313282 rs7535965 G A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.772,A/0.228;Gene=PRDM16/NM_022114.3/1;CC=c.676+125G>A;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.676+125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:10:0:0:0:3,7:103,216:9.08,0.00:0.00,0.00:9.08,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:43.0,12.4:0,0:0,0:111,122:40,28:2,23:NM_022114.3(PRDM16) c.676+125G>A,-:0.25,-:NOT_FOUND,- 1 3319563 . G . . NT END=3321302;NT GT ./. 1 3319674 rs12562397 C T 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4377,T/0.5623;Gene=PRDM16/NM_022114.3/1;CC=c.884+112C>T;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.884+112C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:9,12:259,372:0.00,36.68:0.00,0.00:0.00,36.68:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.6,80.7:0,0:0,0:56,89:94,61:22,32:-,NM_022114.3(PRDM16) c.884+112C>T:-,0.56:-,NOT_FOUND 1 3319681 rs12562399 C G 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4379,G/0.5621;Gene=PRDM16/NM_022114.3/1;CC=c.884+119C>G;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.884+119C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:0:0:0:8,12:256,416:0.00,41.48:0.00,0.00:0.00,41.48:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.2,77.9:0,0:0,0:56,84:94,65:14,34:-,NM_022114.3(PRDM16) c.884+119C>G:-,0.56:-,NOT_FOUND 1 3321134 rs3795261 G A 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9046,A/0.09545;Gene=PRDM16/NM_022114.3/1;CC=c.885-169G>A;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.885-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,G,T:23:23:0:0:15,7,1:496,158,12:50.86,0.00,0.33:50.86,0.00,0.33:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:35.1,12.1,83.0:0,0,0:0,0,0:28,52,7:122,99,144:25,38,0:NM_022114.3(PRDM16) c.885-169G>A,-:0.13,-:NOT_FOUND,- 1 3321451 . G . . NT END=3322058;NT GT ./. 1 3322213 . G . . NT END=3327947;NT GT ./. 1 3328358 rs870124 T C 389 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.05491,C/0.9451,G/.;PC=0.375;Gene=PRDM16/NM_022114.3/1;CC=c.1597T>C;ProtCh=p.S533P;VC=Missense;Gene=PRDM16/NM_199454.2/0;CC=c.1597T>C;ProtCh=p.S533P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:109:74:0:0:109:3373:388.83:224.61:164.22:1.00:1.00:1.00:60:45.1:0:0:63:88:33:NM_022114.3(PRDM16) c.1597T>C (p.Ser533Pro),NM_022114.3(PRDM16) c.1597T>C (p.Ser533Pro):0.93,0.93:0.877738,0.877738 1 3329365 . G . . NT END=3331123;NT GT ./. 1 3331212 . G . . NT END=3334391;NT GT ./. 1 3334562 . G . . NT END=3335230;NT GT ./. 1 3335309 . G . . NT END=3342144;NT GT ./. 1 3341791 rs1970118 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1366,G/0.8634;Gene=PRDM16/NM_022114.3/1;CC=c.2940-354A>G;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.2940-354A>G;VC=Intron;DM=PRDM16/zf-C2H2;DM=PRDM16/zf-C2H2;DM=PRDM16/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:97:11.44:11.44:0.00:1.00:1.00:0.00:60:45.8:0:0:16:133:6:NM_022114.3(PRDM16) c.2940-354A>G,NM_022114.3(PRDM16) c.2940-354A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 3342315 . G . . NT END=3342614;NT GT ./. 1 3342790 . G . . NT END=3347435;NT GT ./. 1 3342804 rs870171 G T 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.6206,A/.,T/0.3794;Gene=PRDM16/NM_022114.3/1;CC=c.3284+15G>T;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.3284+15G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:44:17:0:0:23,21:720,670:0.00,63.81:0.00,10.44:0.00,53.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.2,37.7:0,0:0,0:104,114:39,37:34,22:-,NM_022114.3(PRDM16) c.3284+15G>T:-,0.36:-,0.315141 1 3342968 rs75861985 G A 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9487,A/0.05132;Gene=PRDM16/NM_022114.3/1;CC=c.3284+179G>A;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.3284+179G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:309:35.67:0.00:35.67:1.00:0.00:1.00:60:58.6:0:0:86:65:33:NM_022114.3(PRDM16) c.3284+179G>A,NM_022114.3(PRDM16) c.3284+179G>A:0.07,0.07:NOT_FOUND,NOT_FOUND 1 3347673 . G . . NT END=3348529;NT GT ./. 1 3348268 rs2493274 G C 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5329,C/0.4671;Gene=PRDM16/NM_022114.3/1;CC=c.3522-262G>C;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.3522-262G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,G:6:6:0:0:5,1:144,32:15.57,0.00:15.57,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:36.8,0.0:0,0:0,0:34,32:117,119:2,0:NM_022114.3(PRDM16) c.3522-262G>C,-:0.42,-:NOT_FOUND,- 1 3348705 . G . . NT END=3350240;NT GT ./. 1 3350095 rs28551116 T C 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.5857,C/0.4143;PC=0.001;Gene=PRDM16/NM_022114.3/1;CC=c.3697-146T>C;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.3697-203T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:31:0:0:9,22:292,665:25.40,0.00:22.11,0.00:3.29,0.00:0.99,0.00:0.99,0.00:0.58,0.00:60,60:44.7,54.7:0,0:0,0:109,29:36,107:27,27:NM_022114.3(PRDM16) c.3697-146T>C,-:0.43,-:NOT_FOUND,- 1 3350134 rs10752734 T C 187 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.5335,C/0.4665;PC=0.001;Gene=PRDM16/NM_022114.3/1;CC=c.3697-107T>C;VC=Intron;Gene=PRDM16/NM_199454.2/0;CC=c.3697-164T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:C,T:60:49:0:0:54,6:1693,170:186.64,0.00:137.66,0.00:48.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.5,34.8:0,0:0,0:23,113:123,35:12,31:NM_022114.3(PRDM16) c.3697-107T>C,-:0.44,-:NOT_FOUND,- 1 3350376 . C . . NT END=3379648;NT GT ./. 1 3366576 rs5772104 CGT C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=279;PC=0.040;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CGT,C:4:4:0:3:1,3:36,93:0.00,9.75:0.00,6.65:0.00,3.10:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,0.0:0,0:0,0:142,31:9,94:0,4:-,NM_014448.3(ARHGEF16) c.-248-u4570_-248-u4569delGT:-,NOT_FOUND:-,NOT_FOUND 1 3380237 . G . . NT END=3382711;NT GT ./. 1 3382758 . G . . NT END=3383731;NT GT ./. 1 3383593 rs3893316 G T 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.3023,T/0.6977;PC=0.001;Gene=ARHGEF16/NM_014448.3/1;CC=c.635-139G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:21:0:0:21:590:68.97:68.97:0.00:1.00:1.00:0.00:60:69.4:0:0:50:100:36:NM_014448.3(ARHGEF16) c.635-139G>T,NM_014448.3(ARHGEF16) c.635-139G>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 3383665 rs7550948 G A 115 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.3181,A/0.6819;Gene=ARHGEF16/NM_014448.3/1;CC=c.635-67G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:75:A,C:31:27:0:0:30,1:1011,7:114.98,0.13:78.79,0.13:36.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.1,86.0:0,0:0,0:51,150:97,1:33,0:NM_014448.3(ARHGEF16) c.635-67G>A,NM_014448.3(ARHGEF16) c.635-67G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 3383898 rs6424078 A G 306 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.14,G/0.86;Gene=ARHGEF16/NM_014448.3/1;CC=c.801A>G;ProtCh=p.P267=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:50:0:0:84:2659:305.85:114.18:191.67:1.00:1.00:1.00:60:36.7:0:0:98:49:28:NM_014448.3(ARHGEF16) c.801A>G (p.(=)),NM_014448.3(ARHGEF16) c.801A>G (p.(=)):0.85,0.85:0.897413,0.897413 1 3383902 . G . . NT END=3385443;NT GT ./. 1 3385250 rs1417897 C A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.4846,A/0.5154;Gene=ARHGEF16/NM_014448.3/1;CC=c.805-194C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,C:14:13:0:0:4,10:131,307:11.38,0.00:6.08,0.00:5.30,0.00:0.77,0.00:0.97,0.00:0.57,0.00:60,60:66.5,70.1:0,0:0,0:40,71:106,80:14,26:NM_014448.3(ARHGEF16) c.805-194C>A,-:0.56,-:NOT_FOUND,- 1 3385256 rs1891143 A G 33 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5032,G/0.4968;Gene=ARHGEF16/NM_014448.3/1;CC=c.805-188A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:14:13:0:0:4,10:105,316:0.00,32.73:0.00,33.55:0.00,-0.82:0.00,1.00:0.00,1.00:0.00,0.93:60,60:66.5,70.1:0,0:0,0:46,77:100,74:14,26:-,NM_014448.3(ARHGEF16) c.805-188A>G:-,0.47:-,NOT_FOUND 1 3385330 rs2493249 T C 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.03035,C/0.9696;Gene=ARHGEF16/NM_014448.3/1;CC=c.805-114T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:20:0:0:21:638:73.79:66.48:7.30:1.00:1.00:1.00:60:57.7:0:0:52:99:36:NM_014448.3(ARHGEF16) c.805-114T>C,NM_014448.3(ARHGEF16) c.805-114T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 3385501 . G . . NT END=3385996;NT GT ./. 1 3386158 . G . . NT END=3388170;NT GT ./. 1 3388269 rs77768688 G A 125 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.9774,A/0.02256;Gene=ARHGEF16/NM_014448.3/1;CC=c.1023-1373G>A;VC=Intron;DM=ARHGEF16/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:117:88:0:0:40,77:1380,2337:124.52,0.00:59.55,0.00:64.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,11.6:0,0:0,0:72,67:75,76:31,42:NM_014448.3(ARHGEF16) c.1023-1373G>A,-:0.03,-:NOT_FOUND,- 1 3388356 . G . . NT END=3389641;NT GT ./. 1 3389727 rs2185639 C T 257 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.3155,T/0.6845;PC=0.842;Gene=ARHGEF16/NM_014448.3/1;CC=c.1108C>T;ProtCh=p.H370Y;VC=Missense;DM=ARHGEF16/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:73:55:0:0:73:2227:257.35:148.50:108.85:1.00:1.00:1.00:60:36.7:0:0:69:80:35:NM_014448.3(ARHGEF16) c.1108C>T (p.His370Tyr),NM_014448.3(ARHGEF16) c.1108C>T (p.His370Tyr):0.69,0.69:0.735353,0.735353 1 3389795 . G . . NT END=3389956;NT GT ./. 1 3390087 . G . . NT END=3391271;NT GT ./. 1 3390238 rs2493323 T A 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.02855,A/0.9714;Gene=ARHGEF16/NM_014448.3/1;CC=c.1305+152T>A;VC=Intron;DM=ARHGEF16/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:0:0:0:15:422:49.23:0.00:49.23:1.00:0.00:1.00:60:42.6:0:0:113:37:30:NM_014448.3(ARHGEF16) c.1305+152T>A,NM_014448.3(ARHGEF16) c.1305+152T>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 3391022 rs2493322 G A 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1242,A/0.8758;Gene=ARHGEF16/NM_014448.3/1;CC=c.1306-250G>A;VC=Intron;DM=ARHGEF16/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:92:11.07:11.07:0.00:1.00:1.00:0.00:60:51.8:0:0:32:119:14:NM_014448.3(ARHGEF16) c.1306-250G>A,NM_014448.3(ARHGEF16) c.1306-250G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 3391347 . G . . NT END=3392533;NT GT ./. 1 3392326 rs2493318 A G 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1969,G/0.8031;Gene=ARHGEF16/NM_014448.3/1;CC=c.1381-208A>G;VC=Intron;DM=ARHGEF16/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:12:0:0:12:345:40.13:40.13:0.00:1.00:1.00:0.00:60:37.5:0:0:34:115:22:NM_014448.3(ARHGEF16) c.1381-208A>G,NM_014448.3(ARHGEF16) c.1381-208A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3392627 . G . . NT END=3394438;NT GT ./. 1 3394224 rs5772105 C CG 13 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1012,CG/0.8984;DB;DBA=NA;PAF=C/0.1012,CA/0.0003994,CG/0.8984,CGG/.;NP=231;Gene=ARHGEF16/NM_014448.3/1;CC=c.1474-213dupG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CG:4:4:4:0:4:109:12.80:12.80:0.00:1.00:1.00:0.00:60:75.2:0:0:22:129:19:NM_014448.3(ARHGEF16) c.1474-215_1474-214insG,NM_014448.3(ARHGEF16) c.1474-215_1474-214insG:0.88,0.88:NOT_FOUND,NOT_FOUND 1 3394250 rs10909948 C T 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3161,T/0.6839;Gene=ARHGEF16/NM_014448.3/1;CC=c.1474-189C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:12:0:0:12:387:44.39:44.39:0.00:1.00:1.00:0.00:60:61.0:0:0:18:131:12:NM_014448.3(ARHGEF16) c.1474-189C>T,NM_014448.3(ARHGEF16) c.1474-189C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 3394456 rs4638054 T C 260 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.02935,C/0.9706;Gene=ARHGEF16/NM_014448.3/1;CC=c.1491T>C;ProtCh=p.S497=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:45:0:0:72:2261:260.42:112.94:147.48:1.00:1.00:1.00:60:45.0:0:0:83:53:24:NM_014448.3(ARHGEF16) c.=,NM_014448.3(ARHGEF16) c.=:0.97,0.97:0.968445,0.968445 1 3394591 . G . . NT END=3394987;NT GT ./. 1 3394640 rs4422946 A G 167 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.1002,G/0.8998;PC=0.001;Gene=ARHGEF16/NM_014448.3/1;CC=c.1625+50A>G;VC=Intron;DM=ARHGEF16/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:19:0:0:45:1461:167.42:46.14:121.28:1.00:1.00:1.00:60:60.0:0:0:100:42:30:NM_014448.3(ARHGEF16) c.1625+50A>G,NM_014448.3(ARHGEF16) c.1625+50A>G:0.88,0.88:0.912456,0.912456 1 3394674 rs4534324 T C 100 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.02855,C/0.9714;Gene=ARHGEF16/NM_014448.3/1;CC=c.1625+84T>C;VC=Intron;DM=ARHGEF16/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:11:0:0:29:868:100.44:25.18:75.26:1.00:1.00:1.00:60:69.9:0:0:109:42:25:NM_014448.3(ARHGEF16) c.1625+84T>C,NM_014448.3(ARHGEF16) c.1625+84T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 3395039 rs10797395 G A 316 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.3139,A/0.6861;PC=1.000;Gene=ARHGEF16/NM_014448.3/1;CC=c.1677G>A;ProtCh=p.V559=;VC=Silent;DM=ARHGEF16/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:84:63:0:0:84:2756:315.53:161.93:153.60:1.00:1.00:1.00:60:36.7:0:0:64:83:33:NM_014448.3(ARHGEF16) c.1677G>A (p.(=)),NM_014448.3(ARHGEF16) c.1677G>A (p.(=)):0.69,0.69:0.734238,0.734238 1 3395177 . G . . NT END=3396080;NT GT ./. 1 3395229 rs4553117 T C 172 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.02656,C/0.9734;Gene=ARHGEF16/NM_014448.3/1;CC=c.1814+53T>C;VC=Intron;DM=ARHGEF16/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:C:48:16:0:0:48:1495:172.22:37.08:135.14:1.00:1.00:1.00:60:36.6:0:0:108:42:22:NM_014448.3(ARHGEF16) c.1814+53T>C,NM_014448.3(ARHGEF16) c.1814+53T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 3395973 rs70938094 ACC A 104 sb,nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1596;Gene=ARHGEF16/NM_014448.3/1;CC=c.1815-104_1815-103delCC;VC=Intron;DM=ARHGEF16/PH;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:ACC,A:32:32:0:31:2,30:58,932:0.00,104.26:0.00,102.48:0.00,1.77:0.00,1.00:0.00,1.00:0.00,0.96:60,60:0.0,10.7:2,0:0,0:0,42:150,107:0,23:NM_014448.3(ARHGEF16) c.1815-107_1815-106delCC,NM_014448.3(ARHGEF16) c.1815-107_1815-106delCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 3396155 . G . . NT END=3396375;NT GT ./. 1 3396478 . G . . NT END=3397011;NT GT ./. 1 3396609 rs881978 C T 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.3201,T/0.6799;Gene=ARHGEF16/NM_014448.3/1;CC=c.1990+132C>T;VC=Intron;DM=ARHGEF16/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:380:44.14:0.00:44.14:1.00:0.00:1.00:60:32.5:0:0:111:40:30:NM_014448.3(ARHGEF16) c.1990+132C>T,NM_014448.3(ARHGEF16) c.1990+132C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 1 3397152 . C . . NT END=3407091;NT GT ./. 1 3397188 rs2487677 T C 314 nt VT=SNV;PN=C;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.008187,C/0.9918;Gene=ARHGEF16/NM_014448.3/1;CC=c.*37T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:87:40:0:0:87:2726:313.85:88.17:225.68:1.00:1.00:1.00:60:38.8:0:0:98:41:32:NM_014448.3(ARHGEF16) c.=,NM_014448.3(ARHGEF16) c.=:0.99,0.99:0.992714,0.992714 1 3397415 rs142007270 C CCT 16 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.03395,CCCT/.,CCT/0.9661,CT/.;NP=39;Gene=ARHGEF16/NM_014448.3/1;CC=c.*266_*267dupTC;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,CCT:6:0:5:0:1,5:32,152:0.00,16.41:0.00,0.00:0.00,16.41:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,39.6:0,0:0,0:145,88:4,61:0,25:-,NM_014448.3(ARHGEF16) c.*268_*269dupTC:-,NOT_FOUND:-,NOT_FOUND 1 3398879 rs58188396 G GGGGGGGCGGGTAGCC 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4195,GGGGGGGCGGGTAGCC/0.5805;DB;DBA=NA;PAF=G/0.4195,GGGGGGGCGGGTAGCC/0.5805;NP=5;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:G,GGGGGGGCGGGTAGCC:6:6:3:0:3,3:93,90:0.00,8.62:0.00,7.09:0.00,1.54:0.00,0.73:0.00,0.73:0.00,0.79:60,60:41.7,0.0:0,0:0,0:114,36:23,79:6,5:-,chr1 g.3398879_3398880insGGGGGGCGGGTAGCC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 3398895 rs201577934 A G 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:6:6:0:0:3,3:96,70:0.00,6.56:0.00,6.71:0.00,-0.15:0.00,0.73:0.00,0.73:0.00,0.67:60,60:11.0,41.7:0,0:0,0:62,130:49,7:28,6:-,chr1 g.3398894A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 3407154 . C . . NT END=3407475;NT GT ./. 1 3407524 . C . . NT END=3409202;NT GT ./. 1 3409332 . C . . NT END=3410334;NT GT ./. 1 3410464 . C . . NT END=3410559;NT GT ./. 1 3410689 . C . . NT END=3410934;NT GT ./. 1 3411064 . C . . NT END=3411176;NT GT ./. 1 3411306 . C . . NT END=3412453;NT GT ./. 1 3412583 . C . . NT END=3413218;NT GT ./. 1 3413348 . C . . NT END=3413551;NT GT ./. 1 3413426 rs12405358 A G 173 nt VT=SNV;PN=C;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.7061,G/0.2939;Gene=MEGF6/NM_001409.3/1;CC=c.3614-79T>C;VC=Intron;DM=MEGF6/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:72:0:0:57,61:1767,1799:0.00,173.32:0.00,89.65:0.00,83.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,46.2:0,0:0,0:72,55:73,96:37,41:-,NM_001409.3(MEGF6) c.3614-79T>C:-,0.3:-,NOT_FOUND 1 3413684 . C . . NT END=3413796;NT GT ./. 1 3413926 . C . . NT END=3414934;NT GT ./. 1 3414105 rs10909951 C T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6657,T/0.3343;PC=0.871;Gene=MEGF6/NM_001409.3/1;CC=c.3353-180G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:15:1:0:0:7,8:168,255:0.00,24.91:0.00,-0.33:0.00,25.24:0.00,1.00:0.00,0.69:0.00,1.00:60,60:27.3,42.6:0,0:0,0:82,128:69,22:53,16:-,NM_001409.3(MEGF6) c.3353-180G>A:-,0.32:-,NOT_FOUND 1 3415064 . C . . NT END=3415261;NT GT ./. 1 3415391 . C . . NT END=3415701;NT GT ./. 1 3415831 . C . . NT END=3416151;NT GT ./. 1 3416281 . C . . NT END=3416359;NT GT ./. 1 3416449 rs7553399 C A 310 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=C/0.4317,A/0.5683;Gene=MEGF6/NM_001409.3/1;CC=c.2747G>T;ProtCh=p.R916L;VC=Missense;DM=MEGF6/Laminin_EGF;DM=MEGF6/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:181:117:0:0:96,85:3183,2589:309.80,0.00:128.37,0.00:181.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,4.2:0,0:0,0:65,82:85,68:36,38:NM_001409.3(MEGF6) c.2747G>T (p.Arg916Leu),-:0.57,-:0.63742,- 1 3416489 . C . . NT END=3417196;NT GT ./. 1 3416758 rs2794332 A G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2478,G/0.7522;Gene=MEGF6/NM_001409.3/1;CC=c.2708-270T>C;VC=Intron;DM=MEGF6/Laminin_EGF;DM=MEGF6/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G,T:8:1:0:0:7,1:205,10:23.41,0.63:3.62,0.00:19.79,0.63:1.00,0.00:0.92,0.00:1.00,0.00:60,60:54.0,54.0:0,0:0,0:101,105:50,46:24,0:NM_001409.3(MEGF6) c.2708-270T>C,NM_001409.3(MEGF6) c.2708-270T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 3417131 rs2821031 A G 244 nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.2614,G/0.7386;Gene=MEGF6/NM_001409.3/1;CC=c.2707+66T>C;VC=Intron;DM=MEGF6/Laminin_EGF;DM=MEGF6/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:73:64:0:0:73:2098:244.07:186.39:57.68:1.00:1.00:1.00:60:41.0:0:0:31:119:23:NM_001409.3(MEGF6) c.2707+66T>C,NM_001409.3(MEGF6) c.2707+66T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 3417329 . C . . NT END=3417529;NT GT ./. 1 3417659 . C . . NT END=3417740;NT GT ./. 1 3417873 . C . . NT END=3418359;NT GT ./. 1 3417960 rs4648507 G A 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.4285,A/0.5715;Gene=MEGF6/NM_001409.3/1;CC=c.2315-88C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:59:17:0:0:29,1,29:907,14,864:87.05,0.13,0.00:8.36,0.29,0.00:78.69,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.0,67.0,15.7:0,0,0:0,0,0:106,150,103:45,1,46:24,0,31:NM_001409.3(MEGF6) c.2315-88C>T,-:0.58,-:NOT_FOUND,- 1 3418171 rs7516662 A G 78 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.05691,G/0.9431;Gene=MEGF6/NM_001409.3/1;CC=c.2314+189T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:14:0:0:22:674:77.86:49.85:28.01:1.00:1.00:1.00:60:57.2:0:0:67:84:25:NM_001409.3(MEGF6) c.2314+189T>C,NM_001409.3(MEGF6) c.2314+189T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 3418486 . C . . NT END=3421771;NT GT ./. 1 3418565 rs2821030 T C 196 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=MEGF6/NM_001409.3/1;CC=c.2189-80A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:C:56:22:0:0:56:1693:195.63:59.45:136.17:1.00:1.00:1.00:60:55.0:0:0:105:39:21:NM_001409.3(MEGF6) c.2189-80A>G,NM_001409.3(MEGF6) c.2189-80A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 3418613 rs139503756 CCG C 58 idl,nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=231;Gene=MEGF6/NM_001409.3/1;CC=c.2189-130_2189-129delCG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCG,C:34:8:0:25:14,20:441,581:0.00,57.62:0.00,3.63:0.00,53.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:67.1,63.2:2,0:0,0:135,107:2,36:11,22:-,NM_001409.3(MEGF6) c.2189-130_2189-129delCG:-,NOT_FOUND:-,NOT_FOUND 1 3418616 rs57408931 G A 54 sb;idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=MEGF6/NM_001409.3/1;CC=c.2189-131C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G,D:25:5:0:9:19,5,1:509,162,21:54.45,0.00,1.11:0.33,0.00,-0.04:54.12,0.00,1.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,21:66.5,67.0,136.0:19,1,0:0,0,0:109,27,91:37,34,31:21,22,0:NM_001409.3(MEGF6) c.2189-131C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 3418618 rs57082253 G A 49 sb;idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=MEGF6/NM_001409.3/1;CC=c.2189-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:26:6:0:3:20,6:459,202:49.06,0.00:0.19,0.00:48.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.1,20.2:20,3:0,0:110,17:33,33:19,11:NM_001409.3(MEGF6) c.2189-133C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 3418657 rs7368034 G A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=3;Gene=MEGF6/NM_001409.3/1;CC=c.2189-172C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,C,G:13:2:0:0:5,2,6:129,42,167:11.96,3.12,0.00:-0.30,-0.10,0.00:12.26,3.22,0.00:0.91,0.00,0.00:0.68,0.00,0.00:0.99,0.00,0.00:60,60,60:93.4,85.0,67.5:0,0,4:0,0,0:138,132,113:10,9,3:9,18,15:NM_001409.3(MEGF6) c.2189-172C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 3421658 rs2821009 A T 51 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.491,T/0.509;Gene=MEGF6/NM_001409.3/1;CC=c.2188+114T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:37:36:0:0:21,16:701,545:0.00,51.14:0.00,49.70:0.00,1.44:0.00,1.00:0.00,1.00:0.00,0.83:60,60:2.5,35.7:0,0:0,0:33,36:118,115:31,14:-,NM_001409.3(MEGF6) c.2188+114T>A:-,0.49:-,NOT_FOUND 1 3421897 rs2821008 A G 178 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=188;DB;DBA=NA;PAF=A/0.7408,G/0.2592;PC=0.003;Gene=MEGF6/NM_001409.3/1;CC=c.2063T>C;ProtCh=p.L688P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:188:143:0:0:122,66:3839,1995:0.00,178.08:0.00,112.73:0.00,65.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,59.0:0,0:0,0:64,91:82,56:36,25:-,NM_001409.3(MEGF6) c.2063T>C (p.Leu688Pro):-,0.23:-,0.223377 1 3421907 . C . . NT END=3421985;NT GT ./. 1 3421959 rs200837804 G C 141 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=172;DB;DBA=NA;PAF=G/0.8161,A/.,C/0.1839,T/.;Gene=MEGF6/NM_001409.3/1;CC=c.2053+27C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,D:172:113:0:1:2,54,115,1:44,1610,3391,32:1.55,140.88,0.00,1.17:0.71,56.61,0.00,-0.16:0.84,84.27,0.00,1.33:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:104.5,90.8,15.2,13.0:0,30,0,0:0,0,0,0:90,104,69,4:60,36,77,66:23,33,33,0:NM_001409.3(MEGF6) c.2053+27C>G,-:NOT_FOUND,-:0.003851,- 1 3421962 . C CCCCG 49 idl,nt VT=INS;SST=Single;DP=173;NP=2;PC=0.010;Gene=MEGF6/NM_001409.3/1;CC=c.2053+23_2053+24insCGGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,CCCCG:162:112:32:1:1,135,5,21:9,4084,156,1002:-0.30,0.00,8.60,49.13:-0.19,0.00,8.13,8.05:-0.12,0.00,0.47,41.08:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:135.0,25.1,60.8,134.9:0,1,0,11:0,0,0,0:40,80,6,85:111,66,145,53:0,38,2,39:-,NM_001409.3(MEGF6) c.2053+23_2053+24insCGGG:-,NOT_FOUND:-,0.051124 1 3422121 . C . . NT END=3422671;NT GT ./. 1 3422144 rs2105305 G C 205 nt VT=SNV;PN=G;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=G/0.8502,C/0.1498;Gene=MEGF6/NM_001409.3/1;CC=c.1919-24C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:158:73:0:0:1,69,87,1:11,2186,2701,23:-0.15,204.96,0.00,0.43:-0.08,56.07,0.00,0.58:-0.07,148.89,0.00,-0.15:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:84.0,37.2,9.3,140.0:0,0,0,0:0,0,0,0:67,88,96,61:84,57,50,90:0,23,31,0:NM_001409.3(MEGF6) c.1919-24C>G,-:0.14,-:0.112502,- 1 3422642 rs2247236 A G 119 nt VT=SNV;PN=C;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.8494,G/0.1506;Gene=MEGF6/NM_001409.3/1;CC=c.1918+30T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:79:0:0:46,42:1458,1256:0.00,119.11:0.00,92.70:0.00,26.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,42.9:0,0:0,0:45,31:104,108:18,22:-,NM_001409.3(MEGF6) c.1918+30T>C:-,0.14:-,0.120728 1 3422801 . C . . NT END=3424358;NT GT ./. 1 3422988 rs877510 G C 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8636,C/0.1364;Gene=MEGF6/NM_001409.3/1;CC=c.1790-188C>G;VC=Intron;DM=MEGF6/Laminin_EGF;DM=MEGF6/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:0:0:0:11,12:357,302:34.08,0.00:0.00,0.00:34.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.6,26.8:0,0:0,0:120,86:30,64:21,26:NM_001409.3(MEGF6) c.1790-188C>G,-:0.13,-:NOT_FOUND,- 1 3424488 . C . . NT END=3425121;NT GT ./. 1 3425254 . C . . NT END=3425638;NT GT ./. 1 3425430 rs2794358 A G 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.5042,G/0.4958;Gene=MEGF6/NM_001409.3/1;CC=c.1529-177T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:12:0:0:13,18:409,489:0.00,48.21:0.00,21.63:0.00,26.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,43.1:0,0:0,0:74,75:77,75:19,38:-,NM_001409.3(MEGF6) c.1529-177T>C:-,0.48:-,NOT_FOUND 1 3425810 . C . . NT END=3426433;NT GT ./. 1 3425867 rs2794359 C A 105 nt VT=SNV;PN=C;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.9121,A/0.08786;PC=0.005;Gene=MEGF6/NM_001409.3/1;CC=c.1358-58G>T;VC=Intron;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:75:32:0:0:37,38:1100,1203:104.99,0.00:19.27,0.00:85.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,10.4:0,0:0,0:113,92:33,50:19,38:NM_001409.3(MEGF6) c.1358-58G>T,-:0.09,-:NOT_FOUND,- 1 3426557 . C . . NT END=3427346;NT GT ./. 1 3426594 rs2821005 A G 120 nt VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.7732,G/0.2268;Gene=MEGF6/NM_001409.3/1;CC=c.1235-38T>C;VC=Intron;DM=MEGF6/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:99:49:0:0:56,1,42:1887,12,1295:0.00,-0.09,120.39:0.00,0.08,32.19:0.00,-0.16,88.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.3,42.0,49.9:0,0,0:0,0,0:65,108,89:79,43,54:33,0,26:-,NM_001409.3(MEGF6) c.1235-38T>C:-,0.19:-,0.160276 1 3426693 rs2821004 A G 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.9225,G/0.07748;Gene=MEGF6/NM_001409.3/1;CC=c.1235-137T>C;VC=Intron;DM=MEGF6/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:37:5:0:0:24,1,12:766,7,382:0.00,-0.17,33.98:0.00,-0.04,1.13:0.00,-0.14,32.85:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,60,60:10.2,56.0,87.1:0,0,0:0,0,0:121,49,100:29,101,48:19,0,24:-,NM_001409.3(MEGF6) c.1235-137T>C:-,0.08:-,NOT_FOUND 1 3426717 rs2821003 A C 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.7744,C/0.2256;Gene=MEGF6/NM_001409.3/1;CC=c.1235-161T>G;VC=Intron;DM=MEGF6/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:29:0:0:0:18,11:600,301:0.00,26.95:0.00,0.00:0.00,26.95:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.9,87.0:0,0:0,0:117,110:34,41:25,28:-,NM_001409.3(MEGF6) c.1235-161T>G:-,0.19:-,NOT_FOUND 1 3426796 rs2821001 C T 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9585,T/0.04153;Gene=MEGF6/NM_001409.3/1;CC=c.1235-240G>A;VC=Intron;DM=MEGF6/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:10:1:0:0:6,4:191,131:0.00,12.09:0.00,-0.22:0.00,12.31:0.00,0.84:0.00,0.60:0.00,0.98:60,60:15.8,89.2:0,0:0,0:96,113:41,35:17,11:-,NM_001409.3(MEGF6) c.1235-240G>A:-,0.05:-,NOT_FOUND 1 3427298 rs79653272 G A 125 nt VT=SNV;PN=A;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.9225,A/0.07748;Gene=MEGF6/NM_001409.3/1;CC=c.1234+49C>T;VC=Intron;DM=MEGF6/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:93:0:0:41,59:1344,1884:124.58,0.00:99.60,0.00:24.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.3,11.4:0,0:0,0:47,46:99,104:27,31:NM_001409.3(MEGF6) c.1234+49C>T,-:0.08,-:0.063176,- 1 3427351 rs2821000 A G 221 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=A/0.9219,C/.,G/0.07808;PC=0.932;Gene=MEGF6/NM_001409.3/1;CC=c.1230T>C;ProtCh=p.C410=;VC=Silent;DM=MEGF6/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:149:130:0:0:76,73:2387,2315:0.00,221.41:0.00,159.61:0.00,61.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,57.0:0,0:0,0:70,46:75,97:33,33:-,NM_001409.3(MEGF6) c.1230T>C (p.(=)):-,0.08:-,0.063732 1 3427467 . C . . NT END=3428113;NT GT ./. 1 3427485 rs2794360 G A 280 nt VT=SNV;PN=C;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=G/0.9225,A/0.07748;Gene=MEGF6/NM_001409.3/1;CC=c.1115-19C>T;VC=Intron;DM=MEGF6/EGF_CA;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:213:135:0:0:91,1,121:2994,12,3685:280.04,-0.18,0.00:105.51,-0.03,0.00:174.53,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:49.0,40.0,7.8:0,0,0:0,0,0:76,108,68:69,43,77:29,0,30:NM_001409.3(MEGF6) c.1115-19C>T,-:0.08,-:0.066076,- 1 3428160 rs2820999 T G 243 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.5,G/0.5;PC=1.000;Gene=MEGF6/NM_001409.3/1;CC=c.1068A>C;ProtCh=p.T356=;VC=Silent;DM=MEGF6/FXa_inhibition;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:149:106:0:0:2,76,71:17,2507,2224:-0.18,242.77,0.00:-0.02,131.73,0.00:-0.16,111.04,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:90.5,40.2,8.0:0,0,0:0,0,0:100,69,65:31,79,76:35,37,36:NM_001409.3(MEGF6) c.1068A>C (p.(=)),-:0.48,-:0.421195,- 1 3428252 . C . . NT END=3428569;NT GT ./. 1 3428693 . C . . NT END=3431113;NT GT ./. 1 3428747 rs2820998 T C 116 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.9221,C/0.07788;Gene=MEGF6/NM_001409.3/1;CC=c.854-55A>G;VC=Intron;DM=MEGF6/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:28:0:0:41,34:1186,1090:115.50,0.00:23.64,0.00:91.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,12.1:0,0:0,0:118,93:27,56:22,35:NM_001409.3(MEGF6) c.854-55A>G,-:0.08,-:NOT_FOUND,- 1 3431237 . C . . NT END=3431965;NT GT ./. 1 3431441 rs947348 G A 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9229,A/0.07708;PC=0.017;Gene=MEGF6/NM_001409.3/1;CC=c.731-205C>T;VC=Intron;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:9,7:311,205:30.63,0.00:0.00,0.00:30.63,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.2,34.4:0,0:0,0:101,89:50,61:41,15:NM_001409.3(MEGF6) c.731-205C>T,-:0.08,-:NOT_FOUND,- 1 3431529 rs947349 C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8169,T/0.1831;Gene=MEGF6/NM_001409.3/1;CC=c.731-293G>A;VC=Intron;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,T:5:0:0:0:1,4:29,135:0.00,14.32:0.00,0.00:0.00,14.32:0.00,0.96:0.00,0.00:0.00,0.96:60,60:8.0,77.8:0,0:0,0:149,114:1,36:0,23:-,NM_001409.3(MEGF6) c.731-293G>A:-,0.16:-,NOT_FOUND 1 3431555 rs947350 C T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9229,T/0.07708;Gene=MEGF6/NM_001409.3/1;CC=c.731-319G>A;VC=Intron;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,G,T:5:3:0:0:1,1,3:32,6,93:0.00,0.32,9.67:0.00,0.32,3.36:0.00,0.00,6.31:0.00,0.00,0.78:0.00,0.00,0.94:0.00,0.00,0.87:60,60,60:0.0,71.0,69.7:0,0,0:0,0,0:18,19,52:131,111,99:0,0,47:-,NM_001409.3(MEGF6) c.731-319G>A:-,0.08:-,NOT_FOUND 1 3432092 . C . . NT END=3440687;NT GT ./. 1 3440445 rs1891142 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9038,A/0.09625;Gene=MEGF6/NM_001409.3/1;CC=c.604+243C>T;VC=Intron;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:6:6:0:0:5,1:140,35:15.18,0.00:15.18,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:63.2,8.0:0,0:0,0:48,36:92,114:27,0:NM_001409.3(MEGF6) c.604+243C>T,-:0.08,-:NOT_FOUND,- 1 3440647 rs2794322 T C 208 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.0621,C/0.9379;Gene=MEGF6/NM_001409.3/1;CC=c.604+41A>G;VC=Intron;DM=MEGF6/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:59:54:0:0:59:1801:208.16:154.81:53.35:1.00:1.00:1.00:60:33.1:0:0:40:94:25:NM_001409.3(MEGF6) c.604+41A>G,NM_001409.3(MEGF6) c.604+41A>G:0.95,0.95:0.958833,0.958833 1 3440811 . C . . NT END=3447643;NT GT ./. 1 3447899 rs3927734 C T 222 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=179;DB;DBA=NA;PAF=C/0.9014,T/0.09864;PC=0.030;Gene=MEGF6/NM_001409.3/1;CC=c.482-7089G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:179:120:0:0:100,79:3276,2374:0.00,221.64:0.00,92.57:0.00,129.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.8,60.8:0,0:0,0:99,84:45,58:35,39:-,NM_001409.3(MEGF6) c.482-7089G>A:-,0.1:-,NOT_FOUND 1 3447914 rs3927735 G C 558 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=G/0.6396,C/0.3604;Gene=MEGF6/NM_001409.3/1;CC=c.482-7104C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:161:99:0:0:161:4827:558.42:254.75:303.67:1.00:1.00:1.00:60:51.7:0:0:85:49:37:NM_001409.3(MEGF6) c.482-7104C>G,NM_001409.3(MEGF6) c.482-7104C>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 3448008 . T . . NT END=3496388;NT GT ./. 1 3448360 rs28447582 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5669,A/0.4331;Gene=MEGF6/NM_001409.3/1;CC=c.482-7550C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:1:0:0:6:163:19.12:3.98:15.15:1.00:1.00:1.00:60:76.5:0:0:91:59:19:NM_001409.3(MEGF6) c.482-7550C>T,NM_001409.3(MEGF6) c.482-7550C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 1 3448387 rs28439857 G A 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=MEGF6/NM_001409.3/1;CC=c.482-7577C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,C:7:1:0:0:6,1:193,7:21.76,0.41:2.71,0.00:19.05,0.41:1.00,0.00:0.90,0.00:1.00,0.00:60,60:76.3,42.0:0,0:0,0:107,11:43,140:17,0:NM_001409.3(MEGF6) c.482-7577C>T,NM_001409.3(MEGF6) c.482-7577C>T:0.29,0.29:NOT_FOUND,NOT_FOUND 1 3496328 rs2821051 T C 124 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.2095,C/0.7905;Gene=MEGF6/NM_001409.3/1;CC=c.481+61A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:32:0:0:35:1069:123.51:106.88:16.63:1.00:1.00:1.00:60:37.0:0:0:38:113:29:NM_001409.3(MEGF6) c.481+61A>G,NM_001409.3(MEGF6) c.481+61A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 3496479 rs2794340 T C 202 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.1472,C/0.8528;Gene=MEGF6/NM_001409.3/1;CC=c.391A>G;ProtCh=p.S131G;VC=Missense;DM=MEGF6/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:C:56:33:0:0:56:1750:201.65:87.01:114.64:1.00:1.00:1.00:60:41.1:0:0:101:45:28:NM_001409.3(MEGF6) c.391A>G (p.Ser131Gly),NM_001409.3(MEGF6) c.391A>G (p.Ser131Gly):0.85,0.85:0.90418,0.90418 1 3496494 . C . . NT END=3511901;NT GT ./. 1 3512008 rs112138743 G T 61 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.997,C/.,T/0.002995;NP=36;Gene=MEGF6/NM_001409.3/1;CC=c.270C>A;ProtCh=p.T90=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:17:0:0:21,19:642,642:0.00,61.30:0.00,19.45:0.00,41.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,39.7:0,0:0,0:87,106:61,35:23,25:-,NM_001409.3(MEGF6) c.270C>A (p.(=)):-,0.0041:-,0.008122 1 3512012 . C . . NT END=3519029;NT GT ./. 1 3512188 rs7554061 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7466,T/0.2534;Gene=MEGF6/NM_001409.3/1;CC=c.267-177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:5:0:0:0:2,3:56,103:0.00,10.27:0.00,0.00:0.00,10.27:0.00,0.78:0.00,0.00:0.00,0.78:60,60:14.5,39.0:0,0:0,0:87,117:63,34:1,12:-,NM_001409.3(MEGF6) c.267-177G>A:-,0.25:-,NOT_FOUND 1 3518743 rs7514061 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5525,T/0.4475;Gene=MEGF6/NM_001409.3/1;CC=c.266+287G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T:6:6:0:0:2,4:72,119:0.00,12.15:0.00,12.15:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,44.2:0,0:0,0:71,43:79,106:24,9:-,NM_001409.3(MEGF6) c.266+287G>A:-,0.47:-,NOT_FOUND 1 3518857 rs2821014 A C 102 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.001398,C/0.9986;NP=382;Gene=MEGF6/NM_001409.3/1;CC=c.266+173T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:26:0:0:26:891:101.50:101.50:0.00:1.00:1.00:0.00:60:56.5:0:0:31:119:25:NM_001409.3(MEGF6) c.266+173T>G,NM_001409.3(MEGF6) c.266+173T>G:1,1:NOT_FOUND,NOT_FOUND 1 3518944 rs7521546 T C 145 nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.3812,C/0.6188;Gene=MEGF6/NM_001409.3/1;CC=c.266+86A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:87:0:0:50,43:1497,1417:145.45,0.00:128.43,0.00:17.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,16.7:0,0:0,0:61,42:90,105:28,30:NM_001409.3(MEGF6) c.266+86A>G,-:0.63,-:NOT_FOUND,- 1 3519165 . C . . NT END=3527701;NT GT ./. 1 3519179 rs2794330 C T 239 nt VT=SNV;PN=A;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=C/0.5745,G/.,T/0.4255;Gene=MEGF6/NM_001409.3/1;CC=c.132-15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:172:89:0:0:90,82:2836,2518:0.00,239.06:0.00,79.10:0.00,159.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,38.7:0,0:0,0:96,101:46,46:35,30:-,NM_001409.3(MEGF6) c.132-15G>A:-,0.41:-,0.380093 1 3519434 rs12024499 A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4782,G/0.5218;Gene=MEGF6/NM_001409.3/1;CC=c.132-270T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,G:10:0:0:0:5,5:133,159:0.00,15.30:0.00,0.00:0.00,15.30:0.00,0.95:0.00,0.00:0.00,0.95:60,60:6.2,45.6:0,0:0,0:107,105:44,45:4,40:-,NM_001409.3(MEGF6) c.132-270T>C:-,0.54:-,NOT_FOUND 1 3527833 . C . . NT END=3541636;NT GT ./. 1 3527944 rs10797402 C G 374 nt VT=SNV;PN=G;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.0633,G/0.9367;Gene=MEGF6/NM_001409.3/1;CC=c.-112G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:102:34:0:0:102:3252:373.63:75.24:298.39:1.00:1.00:1.00:60:37.7:0:0:108:41:28:NM_001409.3(MEGF6) c.-112G>C,NM_001409.3(MEGF6) c.-112G>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 3528082 rs10797403 T C 75 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.01677,C/0.9832 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:5:0:0:22:646:74.99:9.49:65.50:1.00:1.00:1.00:60:53.6:0:0:89:54:22:NM_001409.3(MEGF6) c.-227-u23A>G,NM_001409.3(MEGF6) c.-227-u23A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 3541838 . G . . NT END=3541987;NT GT ./. 1 3542080 . G . . NT END=3542276;NT GT ./. 1 3542454 . G . . NT END=3544063;NT GT ./. 1 3544218 . G . . NT END=3544972;NT GT ./. 1 3545168 . C . . NT END=3547538;NT GT ./. 1 3545175 rs58849058 GTTCTGGGAGCTCCTCCCCC G 82 nt VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1049;Gene=TPRG1L/NM_182752.3/1;CC=c.*29_*47delTCTGGGAGCTCCTCCCCCT;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTTCTGGGAGCTCCTCCCCC,G:74:36:0:30:44,30:1421,893:0.00,81.65:0.00,39.50:0.00,42.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,2.2:0,0:0,0:109,78:25,73:29,20:-,NM_182752.3(TPRG1L) c.*10TCTGGGAGCTCCTCCCCCT[1]:-,0.87:-,0.831493 1 3547682 . C . . NT END=3548029;NT GT ./. 1 3548136 rs2760321 T C 316 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=217;DB;DBA=NA;PAF=T/0.09385,C/0.9062;Gene=WRAP73/NM_017818.3/1;CC=c.1134A>G;ProtCh=p.A378=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:217:172:0:0:104,113:3320,3627:316.30,0.00:204.48,0.00:111.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,4.2:0,0:0,0:71,68:76,82:38,30:NM_017818.3(WRAP73) c.1134A>G (p.(=)),-:0.89,-:0.850485,- 1 3548222 . C . . NT END=3548229;NT GT ./. 1 3548448 rs373284940 TA T 39 idl VT=DEL;SST=Single;DP=208;DB;DBA=NA;PAF=NA;Gene=WRAP73/NM_017818.3/1;CC=c.1049-228delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:G,TA,I,T:208:131:6:27:1,182,6,19:12,5297,187,576:-0.31,0.00,10.05,39.41:-0.20,0.00,5.75,17.81:-0.11,0.00,4.30,21.60:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:55.0,39.4,68.3,18.6:0,43,0,0:0,0,0,0:86,70,56,99:65,77,77,50:0,36,28,22:-,NM_017818.3(WRAP73) c.1049-228delT:-,NOT_FOUND:-,NOT_FOUND 1 3548449 rs61056079 A G 211 idl VT=SNV;PN=T;NN=T;SST=Single;DP=188;DB;DBA=NA;PAF=A/0.04413,G/0.9559;DB;DBA=NA;PAF=NA;Gene=WRAP73/NM_017818.3/1;CC=c.1049-228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:176:119:10:55:66,1,71,11,7,20:1867,11,2208,354,309,886:0.00,-0.07,211.04,25.36,13.59,49.88:0.00,-0.08,113.24,10.97,7.17,19.56:0.00,0.00,97.80,14.39,6.41,30.32:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:60,60,60,60,60,60:21.1,188.0,65.4,56.2,53.7,37.1:0,1,0,10,3,9:0,0,0,0,0,0:80,115,64,38,28,62:68,35,82,113,98,85:34,0,35,27,15,36:-,NM_017818.3(WRAP73) c.1049-228T>C:-,NOT_FOUND:-,NOT_FOUND 1 3548450 . T G 46 idl VT=SNV;PN=A;NN=T;SST=Single;DP=191;NP=3;PC=0.001;Gene=WRAP73/NM_017818.3/1;CC=c.1049-229A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:191:124:0:35:20,171:641,5074:45.96,0.00:21.22,0.00:24.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:18.4,45.2:0,25:0,0:92,66:50,75:25,36:NM_017818.3(WRAP73) c.1049-229A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 3548721 . C . . NT END=3548776;NT GT ./. 1 3548903 . C . . NT END=3549961;NT GT ./. 1 3549862 . G GT 10 rn VT=INS;SST=Single;DP=24;NP=4;Gene=WRAP73/NM_017818.3/1;CC=c.922+99dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:G,GT,D:24:24:4:1:19,4,1:626,128,29:0.00,10.10,1.65:0.00,10.10,1.65:0.00,0.00,0.00:0.00,0.96,0.00:0.00,0.96,0.00:0.00,0.00,0.00:60,60,60:28.9,9.8,0.0:0,0,0:0,0,0:55,19,92:93,132,58:39,14,0:-,NM_017818.3(WRAP73) c.922+99_922+100insA:-,NOT_FOUND:-,NOT_FOUND 1 3550068 . C . . NT END=3551560;NT GT ./. 1 3551639 . C . . NT END=3551723;NT GT ./. 1 3551859 . C . . NT END=3552507;NT GT ./. 1 3552595 . C . . NT END=3553558;NT GT ./. 1 3552780 rs2821061 A G 36 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.04832,G/0.9517;Gene=WRAP73/NM_017818.3/1;CC=c.517-186T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:1:0:0:10:317:36.47:1.94:34.53:1.00:1.00:1.00:60:38.1:0:0:84:67:32:NM_017818.3(WRAP73) c.517-186T>C,NM_017818.3(WRAP73) c.517-186T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 3553663 . C . . NT END=3555313;NT GT ./. 1 3553789 rs2821058 T C 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.005192,C/0.9948;Gene=WRAP73/NM_017818.3/1;CC=c.413-127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:536:62.49:0.00:62.49:1.00:0.00:1.00:60:42.4:0:0:120:31:30:NM_017818.3(WRAP73) c.413-127A>G,NM_017818.3(WRAP73) c.413-127A>G:1,1:NOT_FOUND,NOT_FOUND 1 3555387 . C . . NT END=3563229;NT GT ./. 1 3563347 . C . . NT END=3563971;NT GT ./. 1 3563428 rs76161888 C T 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9063,T/0.09365;PC=0.006;Gene=WRAP73/NM_017818.3/1;CC=c.223-82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:3:0:0:19,18:530,590:0.00,56.52:0.00,-0.58:0.00,57.09:0.00,1.00:0.00,0.88:0.00,1.00:60,60:27.9,42.8:0,0:0,0:107,101:44,49:33,30:-,NM_017818.3(WRAP73) c.223-82G>A:-,0.11:-,NOT_FOUND 1 3563512 rs34514629 GC G 54 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=GC/0.485,G/0.515;NP=581;Gene=WRAP73/NM_017818.3/1;CC=c.223-167delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:0:0:16:15:471:54.25:0.00:54.25:1.00:0.00:1.00:60:15.3:0:0:82:69:37:NM_017818.3(WRAP73) c.223-167delG,NM_017818.3(WRAP73) c.223-167delG:0.55,0.55:NOT_FOUND,NOT_FOUND 1 3564125 . C . . NT END=3566494;NT GT ./. 1 3566564 . G . . NT END=3598929;NT GT ./. 1 3566625 rs145464993 AGCAGGCTG A 56 nt VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=AGCAGGCTG/0.6258,A/0.3742;NP=133;Gene=WRAP73/NM_017818.3/1;CC=c.-70_-63delCAGCCTGC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGCAGGCTG,A:62:32:0:21:41,21:1395,631:0.00,55.87:0.00,17.06:0.00,38.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,15.8:0,0:0,0:107,110:23,41:34,22:-,NM_017818.3(WRAP73) c.-70_-63delCAGCCTGC:-,NOT_FOUND:-,0.311592 1 3566706 rs2251098 G A 98 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.2927,A/0.7073 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:0:0:0:29:845:98.21:0.00:98.21:1.00:0.00:1.00:60:37.0:0:0:112:39:18:NM_005427.3(TP73) c.-110-u2423G>A,NM_005427.3(TP73) c.-110-u2423G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 1 3585079 rs70940305 C CGTGT 7 sb,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=18;NP=20;NP=8;PC=0.002;Gene=TP73/NM_001204184.1/0;CC=c.-33-13786_-33-13785insGTGT;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.-33-13786_-33-13785insGTGT;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.-33-13786_-33-13785insGTGT;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.-33-13786_-33-13785insGTGT;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.-33-13786_-33-13785insGTGT;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.-33-13786_-33-13785insGTGT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,CGTGT:7:6:4:0:4,3:137,115:0.00,7.43:0.00,1.79:0.00,5.65:0.00,0.67:0.00,0.93:0.00,0.93:60,60:35.8,6.3:0,1:0,0:62,57:89,88:16,23:-,NM_005427.3(TP73) c.-33-13818_-33-13817insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 3598606 rs10910010 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8137,G/0.1863;Gene=TP73/NM_001204184.1/0;CC=c.-33-291A>G;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.-33-291A>G;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.-33-291A>G;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.-33-291A>G;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.-33-291A>G;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.-33-291A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,G:5:5:0:0:2,3:21,96:0.00,9.61:0.00,9.61:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:87.5,81.0:0,0:0,0:65,77:82,74:7,24:-,NM_005427.3(TP73) c.-33-291A>G:-,0.21:-,NOT_FOUND 1 3598900 rs2273953 G A 141 nt VT=SNV;PN=C;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.8225,A/0.1775,T/.;Gene=TP73/NM_001204184.1/0;CC=c.-30G>A;VC=5UTR;Gene=TP73/NM_001204185.1/0;CC=c.-30G>A;VC=5UTR;Gene=TP73/NM_001204186.1/0;CC=c.-30G>A;VC=5UTR;Gene=TP73/NM_001204187.1/0;CC=c.-30G>A;VC=5UTR;Gene=TP73/NM_001204188.1/0;CC=c.-30G>A;VC=5UTR;Gene=TP73/NM_005427.3/1;CC=c.-30G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:103:86:0:0:46,56,1:1496,1715,33:141.08,0.00,1.54:96.98,0.00,1.63:44.10,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.1,7.5,148.0:0,0,0:0,0,0:34,52,63:115,94,87:21,31,0:NM_005427.3(TP73) c.-30G>A,-:0.2,-:0.175714,- 1 3598910 rs1801173 C T 154 nt VT=SNV;PN=T;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.8221,T/0.1779;Gene=TP73/NM_001204184.1/0;CC=c.-20C>T;VC=5UTR;Gene=TP73/NM_001204185.1/0;CC=c.-20C>T;VC=5UTR;Gene=TP73/NM_001204186.1/0;CC=c.-20C>T;VC=5UTR;Gene=TP73/NM_001204187.1/0;CC=c.-20C>T;VC=5UTR;Gene=TP73/NM_001204188.1/0;CC=c.-20C>T;VC=5UTR;Gene=TP73/NM_005427.3/1;CC=c.-20C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:113:95:0:0:61,52:1974,1627:0.00,153.64:0.00,101.01:0.00,52.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,65.0:0,0:0,0:64,40:82,107:32,23:-,NM_005427.3(TP73) c.-20C>T:-,0.2:-,0.176429 1 3598995 . G . . NT END=3599623;NT GT ./. 1 3599745 . G . . NT END=3607235;NT GT ./. 1 3607509 . G . . NT END=3614609;NT GT ./. 1 3607520 rs3765730 G A 155 nt VT=SNV;PN=C;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.7632,A/0.2368;Gene=TP73/NM_001204184.1/0;CC=c.186+7776G>A;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.186+7776G>A;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.186+7776G>A;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.186+7776G>A;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.186+7776G>A;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.186+7776G>A;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.39+12G>A;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.39+12G>A;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.39+12G>A;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.39+12G>A;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.39+12G>A;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.39+12G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:107:47:0:0:52,55:1621,1844:154.67,0.00:39.88,0.00:114.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,6.7:0,0:0,0:100,102:45,41:30,29:NM_005427.3(TP73) c.186+7776G>A,-:0.26,-:0.264304,- 1 3614716 . G . . NT END=3624112;NT GT ./. 1 3624356 . G . . NT END=3638584;NT GT ./. 1 3638674 rs1801174 C T 541 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.264,T/0.736;PC=0.823;Gene=TP73/NM_001204184.1/0;CC=c.519C>T;ProtCh=p.T173=;VC=Silent;Gene=TP73/NM_001204185.1/0;CC=c.519C>T;ProtCh=p.T173=;VC=Silent;Gene=TP73/NM_001204186.1/0;CC=c.519C>T;ProtCh=p.T173=;VC=Silent;Gene=TP73/NM_001204187.1/0;CC=c.519C>T;ProtCh=p.T173=;VC=Silent;Gene=TP73/NM_001204188.1/0;CC=c.519C>T;ProtCh=p.T173=;VC=Silent;Gene=TP73/NM_005427.3/1;CC=c.519C>T;ProtCh=p.T173=;VC=Silent;Gene=TP73/NM_001126240.2/0;CC=c.372C>T;ProtCh=p.T124=;VC=Silent;Gene=TP73/NM_001126241.2/0;CC=c.372C>T;ProtCh=p.T124=;VC=Silent;Gene=TP73/NM_001126242.2/0;CC=c.372C>T;ProtCh=p.T124=;VC=Silent;Gene=TP73/NM_001204189.1/0;CC=c.372C>T;ProtCh=p.T124=;VC=Silent;Gene=TP73/NM_001204190.1/0;CC=c.372C>T;ProtCh=p.T124=;VC=Silent;Gene=TP73/NM_001204191.1/0;CC=c.372C>T;ProtCh=p.T124=;VC=Silent;Gene=TP73/NM_001204192.1/0;CC=c.306C>T;ProtCh=p.T102=;VC=Silent;DM=TP73/P53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:145:107:0:0:1,144:6,4741:0.00,541.20:0.00,310.68:0.00,230.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:89.0,47.2:0,0:0,0:36,84:114,64:0,33:NM_005427.3(TP73) c.519C>T (p.(=)),NM_005427.3(TP73) c.519C>T (p.(=)):0.75,0.75:0.849462,0.849462 1 3638772 . G . . NT END=3639917;NT GT ./. 1 3638834 rs12737840 C T 107 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.7758,T/0.2242;Gene=TP73/NM_001204184.1/0;CC=c.616+63C>T;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.616+63C>T;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.616+63C>T;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.616+63C>T;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.616+63C>T;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.616+63C>T;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.469+63C>T;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.469+63C>T;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.469+63C>T;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.469+63C>T;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.469+63C>T;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.469+63C>T;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.403+63C>T;VC=Intron;DM=TP73/P53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:24:0:0:39,34:1189,1128:0.00,107.10:0.00,20.92:0.00,86.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,41.6:0,0:0,0:116,108:31,43:16,21:-,NM_005427.3(TP73) c.616+63C>T:-,0.22:-,NOT_FOUND 1 3640034 . G . . NT END=3643678;NT GT ./. 1 3640085 rs6424091 C G 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=TP73/NM_001204184.1/0;CC=c.732+52C>G;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.732+52C>G;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.732+52C>G;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.732+52C>G;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.732+52C>G;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.732+52C>G;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.585+52C>G;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.585+52C>G;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.585+52C>G;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.585+52C>G;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.585+52C>G;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.585+52C>G;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.519+52C>G;VC=Intron;DM=TP73/P53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:1:0:0:17:508:58.88:4.08:54.80:1.00:1.00:1.00:60:66.7:0:0:109:30:33:NM_005427.3(TP73) c.732+52C>G,NM_005427.3(TP73) c.732+52C>G:0.75,0.75:0.83892,0.83892 1 3640134 rs59901813 TCTGC T 37 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TCTGC/0.2865,T/0.7135;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TCTGC/0.2865,T/0.7135;NP=472;PC=0.127;Gene=TP73/NM_001204184.1/0;CC=c.732+109_732+112delCCTG;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.732+109_732+112delCCTG;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.732+109_732+112delCCTG;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.732+109_732+112delCCTG;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.732+109_732+112delCCTG;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.732+109_732+112delCCTG;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.585+109_585+112delCCTG;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.585+109_585+112delCCTG;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.585+109_585+112delCCTG;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.585+109_585+112delCCTG;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.585+109_585+112delCCTG;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.585+109_585+112delCCTG;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.519+109_519+112delCCTG;VC=Intron;DM=TP73/P53;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:TCTGC,T:13:0:0:11:2,11:65,342:0.00,37.02:0.00,0.00:0.00,37.02:0.00,1.00:0.00,0.00:0.00,1.00:60,60:84.5,39.0:0,0:0,0:142,66:-17,84:3,30:-,NM_005427.3(TP73) c.732+102_732+105delCTGC:-,0.73:-,NOT_FOUND 1 3643789 . G . . NT END=3644191;NT GT ./. 1 3644085 rs10910017 G A 143 nt VT=SNV;PN=C;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.7786,A/0.2214;PC=0.001;Gene=TP73/NM_001204184.1/0;CC=c.843-107G>A;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.843-107G>A;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.843-107G>A;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.843-107G>A;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.843-107G>A;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.843-107G>A;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.696-107G>A;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.696-107G>A;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.696-107G>A;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.696-107G>A;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.696-107G>A;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.696-107G>A;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.630-107G>A;VC=Intron;DM=TP73/P53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:91:86:0:0:44,1,46:1489,7,1198:143.03,-0.17,0.00:129.38,-0.13,0.00:13.64,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.0,196.0,24.4:0,0,0:0,0,0:40,150,40:111,1,105:36,0,27:NM_005427.3(TP73) c.843-107G>A,-:0.27,-:NOT_FOUND,- 1 3644335 . G . . NT END=3644692;NT GT ./. 1 3644349 rs2181486 A G 550 nt VT=SNV;PN=C;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.35,G/0.65;Gene=TP73/NM_001204184.1/0;CC=c.985+15A>G;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.985+15A>G;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.985+15A>G;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.985+15A>G;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.985+15A>G;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.985+15A>G;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.838+15A>G;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.838+15A>G;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.838+15A>G;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.838+15A>G;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.838+15A>G;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.838+15A>G;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.772+15A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:156:86:0:0:1,154,1:29,4796,14:0.00,550.12,0.15:0.00,182.67,-0.00:0.00,367.45,0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,56.0,222.0:0,0,0:0,0,0:134,98,148:3,45,3:0,30,0:NM_005427.3(TP73) c.985+15A>G,NM_005427.3(TP73) c.985+15A>G:0.66,0.66:0.787823,0.787823 1 3644374 rs2146657 A G 408 nt VT=SNV;PN=G;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.35,G/0.65;Gene=TP73/NM_001204184.1/0;CC=c.985+40A>G;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.985+40A>G;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.985+40A>G;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.985+40A>G;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.985+40A>G;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.985+40A>G;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.838+40A>G;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.838+40A>G;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.838+40A>G;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.838+40A>G;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.838+40A>G;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.838+40A>G;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.772+40A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:113:55:0:0:113:3541:407.81:122.71:285.10:1.00:1.00:1.00:60:66.5:0:0:106:37:24:NM_005427.3(TP73) c.985+40A>G,NM_005427.3(TP73) c.985+40A>G:0.66,0.66:0.793907,0.793907 1 3644782 . G . . NT END=3645890;NT GT ./. 1 3645556 rs70940311 A AAGAGAG 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=116;NP=6;PC=0.006;Gene=TP73/NM_001204184.1/0;CC=c.1075-320_1075-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1075-320_1075-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1075-320_1075-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1075-320_1075-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1075-320_1075-319insGAGAGA;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1075-320_1075-319insGAGAGA;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.928-320_928-319insGAGAGA;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.928-320_928-319insGAGAGA;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.928-320_928-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.928-320_928-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.928-320_928-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.928-320_928-319insGAGAGA;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.862-320_862-319insGAGAGA;VC=Intron;DM=TP73/P53_tetramer;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AAGAGAG:4:4:5:0:4:163:14.42:10.54:3.88:0.96:1.00:0.87:60:0.0:1:0:65:84:24:NM_005427.3(TP73) c.1075-335_1075-334insAGAGAG,NM_005427.3(TP73) c.1075-335_1075-334insAGAGAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 3645835 rs2254530 C A 407 nt VT=SNV;PN=C;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.6018,A/0.3982;Gene=TP73/NM_001204184.1/0;CC=c.1075-56C>A;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1075-56C>A;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1075-56C>A;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1075-56C>A;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1075-56C>A;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1075-56C>A;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.928-56C>A;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.928-56C>A;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.928-56C>A;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.928-56C>A;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.928-56C>A;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.928-56C>A;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.862-56C>A;VC=Intron;DM=TP73/P53_tetramer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:110:100:0:0:110:3550:407.30:323.21:84.08:1.00:1.00:1.00:60:72.6:0:0:53:93:29:NM_005427.3(TP73) c.1075-56C>A,NM_005427.3(TP73) c.1075-56C>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 3645844 rs2096224 G A 425 nt VT=SNV;PN=C;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.4603,A/0.5397;Gene=TP73/NM_001204184.1/0;CC=c.1075-47G>A;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1075-47G>A;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1075-47G>A;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1075-47G>A;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1075-47G>A;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1075-47G>A;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.928-47G>A;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.928-47G>A;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.928-47G>A;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.928-47G>A;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.928-47G>A;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.928-47G>A;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.862-47G>A;VC=Intron;DM=TP73/P53_tetramer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:115:103:0:0:115:3704:425.00:334.70:90.29:1.00:1.00:1.00:60:71.5:0:0:57:90:32:NM_005427.3(TP73) c.1075-47G>A,NM_005427.3(TP73) c.1075-47G>A:0.59,0.59:0.673204,0.673204 1 3646013 . G . . NT END=3646563;NT GT ./. 1 3646137 rs11589885 C T 140 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.6024,T/0.3976;Gene=TP73/NM_001204184.1/0;CC=c.1196+125C>T;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1196+125C>T;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1196+125C>T;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1196+125C>T;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1196+125C>T;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1196+125C>T;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.1049+125C>T;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.1049+125C>T;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.1049+125C>T;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.1049+125C>T;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.1049+125C>T;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.1049+125C>T;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.983+125C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:T:39:3:0:0:39:1218:140.32:6.00:134.32:1.00:1.00:1.00:60:62.1:0:0:100:51:36:NM_005427.3(TP73) c.1196+125C>T,NM_005427.3(TP73) c.1196+125C>T:0.46,0.46:0.575149,0.575149 1 3646192 rs1885867 G A 79 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4026,A/0.5974;Gene=TP73/NM_001204184.1/0;CC=c.1196+180G>A;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1196+180G>A;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1196+180G>A;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1196+180G>A;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1196+180G>A;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1196+180G>A;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.1049+180G>A;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.1049+180G>A;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.1049+180G>A;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.1049+180G>A;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.1049+180G>A;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.1049+180G>A;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.983+180G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:1:0:0:23:678:78.75:3.88:74.87:1.00:1.00:1.00:60:84.9:0:0:116:35:33:NM_005427.3(TP73) c.1196+180G>A,NM_005427.3(TP73) c.1196+180G>A:0.63,0.63:0.739321,0.739321 1 3646214 rs1885866 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.3736,C/0.6264;Gene=TP73/NM_001204184.1/0;CC=c.1196+202T>C;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1196+202T>C;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1196+202T>C;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1196+202T>C;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1196+202T>C;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1196+202T>C;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.1049+202T>C;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.1049+202T>C;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.1049+202T>C;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.1049+202T>C;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.1049+202T>C;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.1049+202T>C;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.983+202T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A,C,T:18:2:0:0:1,16,1:11,467,11:0.44,52.63,0.00:0.00,7.65,0.00:0.44,44.97,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:141.0,89.9,69.0:0,0,0:0,0,0:94,83,45:47,67,82:0,51,0:NM_005427.3(TP73) c.1196+202T>C,NM_005427.3(TP73) c.1196+202T>C:0.65,0.65:0.762531,0.762531 1 3646291 rs1885865 G A 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=TP73/NM_001204184.1/0;CC=c.1197-273G>A;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1196+279G>A;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1196+279G>A;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1196+279G>A;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1196+279G>A;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1197-273G>A;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.1050-273G>A;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.1050-273G>A;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.1049+279G>A;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.1049+279G>A;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.1049+279G>A;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.1049+279G>A;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.984-273G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:7:0:0:15:434:50.51:25.64:24.87:1.00:1.00:1.00:60:61.5:0:0:82:69:40:NM_005427.3(TP73) c.1197-273G>A,NM_005427.3(TP73) c.1197-273G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 3646713 . G . . NT END=3647490;NT GT ./. 1 3647630 . G . . NT END=3648026;NT GT ./. 1 3647962 rs1745813 T C 175 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.4505,C/0.5495;Gene=TP73/NM_001204184.1/0;CC=c.1484+333T>C;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.1336-65T>C;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1197-1349T>C;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1335+333T>C;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1197-65T>C;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1485-65T>C;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.1338-65T>C;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.1337+333T>C;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.1189-65T>C;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.1050-1349T>C;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.1188+333T>C;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.1050-65T>C;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.1272-65T>C;VC=Intron;DM=TP73/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:47:37:0:0:47:1531:175.48:122.77:52.70:1.00:1.00:1.00:60:38.8:0:0:52:99:27:NM_005427.3(TP73) c.1485-65T>C,NM_005427.3(TP73) c.1485-65T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 3648121 . G . . NT END=3649310;NT GT ./. 1 3648254 rs34661835 G A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9481,A/0.05192;Gene=TP73/NM_001204184.1/0;CC=c.1484+625G>A;VC=Intron;Gene=TP73/NM_001204185.1/0;CC=c.*1+134G>A;VC=Intron;Gene=TP73/NM_001204186.1/0;CC=c.1197-1057G>A;VC=Intron;Gene=TP73/NM_001204187.1/0;CC=c.1335+625G>A;VC=Intron;Gene=TP73/NM_001204188.1/0;CC=c.1290+134G>A;VC=Intron;Gene=TP73/NM_005427.3/1;CC=c.1578+134G>A;VC=Intron;Gene=TP73/NM_001126240.2/0;CC=c.1431+134G>A;VC=Intron;Gene=TP73/NM_001126241.2/0;CC=c.1337+625G>A;VC=Intron;Gene=TP73/NM_001126242.2/0;CC=c.*1+134G>A;VC=Intron;Gene=TP73/NM_001204189.1/0;CC=c.1050-1057G>A;VC=Intron;Gene=TP73/NM_001204190.1/0;CC=c.1188+625G>A;VC=Intron;Gene=TP73/NM_001204191.1/0;CC=c.1143+134G>A;VC=Intron;Gene=TP73/NM_001204192.1/0;CC=c.1365+134G>A;VC=Intron;DM=TP73/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:A,G:9:0:0:0:5,4:152,138:14.90,0.00:0.00,0.00:14.90,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:39.0,10.8:0,0:0,0:126,122:25,27:16,17:NM_005427.3(TP73) c.1578+134G>A,-:0.06,-:NOT_FOUND,- 1 3649644 . G . . NT END=3669045;NT GT ./. 1 3669364 . G . . NT END=3670681;NT GT ./. 1 3670806 . G . . NT END=3672020;NT GT ./. 1 3672132 . G . . NT END=3673296;NT GT ./. 1 3673455 . G . . NT END=3677844;NT GT ./. 1 3677995 . G . . NT END=3679183;NT GT ./. 1 3679277 . G . . NT END=3679671;NT GT ./. 1 3680039 . G . . NT END=3680269;NT GT ./. 1 3680401 . G . . NT END=3683098;NT GT ./. 1 3683177 . G . . NT END=3683796;NT GT ./. 1 3684010 . G . . NT END=3686346;NT GT ./. 1 3686452 . G . . NT END=3687964;NT GT ./. 1 3688088 . G . . NT END=3691937;NT GT ./. 1 3692048 . G . . NT END=3692358;NT GT ./. 1 3692486 . A . . NT END=3697651;NT GT ./. 1 3697538 rs71580225 C CA 12 idl,rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=150;PC=0.001;Gene=LRRC47/NM_020710.2/1;CC=c.*113_*114insT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,CA,D:41:40:6:2:34,5,2:1081,191,64:0.00,11.90,4.00:0.00,12.17,4.10:0.00,-0.27,-0.11:0.00,0.76,0.00:0.00,0.97,0.00:0.00,0.59,0.00:60,60,60:15.8,19.6,17.5:0,1,0:0,0,0:64,47,39:86,104,111:46,8,30:-,NM_020710.2(LRRC47) c.*113dupT:-,NOT_FOUND:-,NOT_FOUND 1 3697620 rs201858517 G A 147 nt VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=3;Gene=LRRC47/NM_020710.2/1;CC=c.*32C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:87:0:0:47,52:1542,1632:146.82,0.00:81.57,0.00:65.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,3.8:0,0:0,0:43,41:106,102:24,23:NM_020710.2(LRRC47) c.*32C>T,-:0.0009,-:0.000077,- 1 3697901 . C . . NT END=3698075;NT GT ./. 1 3698166 . C . . NT END=3699224;NT GT ./. 1 3699328 . C . . NT END=3700559;NT GT ./. 1 3700676 . C . . NT END=3701650;NT GT ./. 1 3701557 rs34940702 CA C 10 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=6;Gene=LRRC47/NM_020710.2/1;CC=c.1194+93delT;VC=Intron;DM=LRRC47/B3_4;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:CA,I,C:20:24:4:6:14,2,4:442,122,193:0.00,3.97,10.29:0.00,3.97,8.79:0.00,0.00,1.50:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.45:60,60,60:10.7,27.0,5.2:0,2,2:0,0,0:62,54,36:89,96,114:43,30,21:-,NM_020710.2(LRRC47) c.1194+93delT:-,NOT_FOUND:-,NOT_FOUND 1 3701768 . C . . NT END=3703412;NT GT ./. 1 3703875 . C . . NT END=3712425;NT GT ./. 1 3713041 . G . . NT END=3731965;NT GT ./. 1 3732082 . C . . NT END=3732843;NT GT ./. 1 3732935 . C . . NT END=3739737;NT GT ./. 1 3733161 rs11809965 C G 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8724,G/0.1276;Gene=CEP104/NM_014704.3/1;CC=c.2572-227G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:G,T:14:1:0:0:13,1:427,7:48.48,0.25:2.02,0.00:46.46,0.25:1.00,0.00:0.95,0.00:1.00,0.00:60,60:48.5,93.0:0,0:0,0:87,49:64,102:38,0:NM_014704.3(CEP104) c.2572-227G>C,NM_014704.3(CEP104) c.2572-227G>C:0.15,0.15:NOT_FOUND,NOT_FOUND 1 3739806 . C . . NT END=3739987;NT GT ./. 1 3740127 . C . . NT END=3742321;NT GT ./. 1 3742431 . C . . NT END=3742933;NT GT ./. 1 3743001 . C . . NT END=3743271;NT GT ./. 1 3743309 . C . . NT END=3745829;NT GT ./. 1 3743433 rs5772126 T TG 82 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1653,TG/0.8347;DB;DBA=NA;PAF=T/0.1653,TG/0.8347,TGG/.;NP=2266;Gene=CEP104/NM_014704.3/1;CC=c.2152-126_2152-125insC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TG:26:3:23:1:3,23:77,746:0.00,81.55:0.00,5.17:0.00,76.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.7,13.4:1,0:0,0:143,94:3,57:2,31:-,NM_014704.3(CEP104) c.2152-126_2152-125insC:-,NOT_FOUND:-,NOT_FOUND 1 3745938 . C . . NT END=3746354;NT GT ./. 1 3746116 rs1836 A G 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2105,G/0.7895;Gene=CEP104/NM_014704.3/1;CC=c.2044-179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:3:0:0:16:449:52.43:9.53:42.90:1.00:1.00:1.00:60:54.4:0:0:83:68:33:NM_014704.3(CEP104) c.2044-179T>C,NM_014704.3(CEP104) c.2044-179T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3746254 rs2275830 T C 96 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2105,C/0.7895;Gene=CEP104/NM_014704.3/1;CC=c.2043+101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C,G:27:22:0:0:26,1:837,11:95.67,0.35:77.97,0.35:17.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,11.0:0,0:0,0:59,125:91,25:47,0:NM_014704.3(CEP104) c.2043+101A>G,NM_014704.3(CEP104) c.2043+101A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3746562 . C . . NT END=3747609;NT GT ./. 1 3746583 rs2275828 G T 169 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.6502,T/0.3498;PC=0.009;Gene=CEP104/NM_014704.3/1;CC=c.1837-22C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:19:0:0:47:1464:168.73:51.57:117.16:1.00:1.00:1.00:60:69.3:0:0:96:46:26:NM_014704.3(CEP104) c.1837-22C>A,NM_014704.3(CEP104) c.1837-22C>A:0.38,0.38:0.373135,0.373135 1 3746589 rs2275826 C G 152 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.2105,G/0.7895;Gene=CEP104/NM_014704.3/1;CC=c.1837-28G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A,G,T:44:16:0:0:1,41,2:9,1335,27:0.16,151.78,1.33:0.00,44.95,0.00:0.16,106.83,1.33:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:67.0,67.7,138.5:0,0,0:0,0,0:45,102,98:106,40,53:0,28,4:NM_014704.3(CEP104) c.1837-28G>C,NM_014704.3(CEP104) c.1837-28G>C:0.8,0.8:0.939471,0.939471 1 3747580 rs6424058 C T 379 nt VT=SNV;PN=G;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.655,A/.,T/0.345;Gene=CEP104/NM_014704.3/1;CC=c.1836+30G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:105:91:0:0:1,104:8,3307:0.00,378.66:0.00,246.98:0.00,131.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,69.6:0,0:0,0:137,38:13,107:0,23:NM_014704.3(CEP104) c.1836+30G>A,NM_014704.3(CEP104) c.1836+30G>A:0.37,0.37:0.369676,0.369676 1 3747603 rs6413779 T C 463 nt VT=SNV;PN=C;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.2105,C/0.7895;Gene=CEP104/NM_014704.3/1;CC=c.1836+7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:132:109:0:0:1,130,1:10,4034,24:0.08,462.55,0.00:0.08,291.99,0.00:-0.00,170.55,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:33.0,62.2,12.0:0,0,0:0,0,0:52,53,14:99,92,123:0,31,0:NM_014704.3(CEP104) c.1836+7A>G,NM_014704.3(CEP104) c.1836+7A>G:0.8,0.8:0.939566,0.939566 1 3747787 . C . . NT END=3750425;NT GT ./. 1 3750215 rs35801288 AC A 23 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AC/0.6456,A/0.3544;Gene=CEP104/NM_014704.3/1;CC=c.1659+210delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:AC,A:8:8:0:7:1,7:33,212:0.00,23.23:0.00,23.23:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:33.0,24.3:0,0:0,0:41,39:109,112:0,16:-,NM_014704.3(CEP104) c.1659+210delG:-,0.38:-,NOT_FOUND 1 3750600 . C . . NT END=3751488;NT GT ./. 1 3750729 rs6677381 A G 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.653,G/0.347;Gene=CEP104/NM_014704.3/1;CC=c.1486-130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:342:39.44:0.00:39.44:1.00:0.00:1.00:60:65.3:0:0:95:54:10:NM_014704.3(CEP104) c.1486-130T>C,NM_014704.3(CEP104) c.1486-130T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 3750731 rs6680017 T G 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.2105,G/0.7895;Gene=CEP104/NM_014704.3/1;CC=c.1486-132A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:320:37.21:0.00:37.21:1.00:0.00:1.00:60:65.3:0:0:97:52:10:NM_014704.3(CEP104) c.1486-132A>C,NM_014704.3(CEP104) c.1486-132A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3751278 rs2887273 C G 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6552,G/0.3448;Gene=CEP104/NM_014704.3/1;CC=c.1485+211G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:233:26.64:26.64:0.00:1.00:1.00:0.00:60:35.9:0:0:76:74:8:NM_014704.3(CEP104) c.1485+211G>C,NM_014704.3(CEP104) c.1485+211G>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 3751657 . C . . NT END=3753058;NT GT ./. 1 3752868 rs59512443 CAA C 20 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CAA/0.2123,C/0.7877;NP=26;PC=0.909;Gene=CEP104/NM_014704.3/1;CC=c.1317+189_1317+190delTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:CAA,C:9:12:0:9:3,6:102,283:0.00,19.85:0.00,19.85:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,19.8:0,3:0,0:143,38:7,111:1,9:-,NM_014704.3(CEP104) c.1317+189_1317+190delTT:-,NOT_FOUND:-,NOT_FOUND 1 3753032 rs56798767 G GT 18 idl,rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=3;Gene=CEP104/NM_014704.3/1;CC=c.1317+26_1317+27insA;VC=Intron;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:G,GT,D:33:34:14:2:24,7,2:630,414,66:0.00,17.86,4.42:0.00,12.84,3.27:0.00,5.01,1.15:0.00,0.94,0.00:0.00,0.99,0.00:0.00,0.89,0.00:60,60,60:32.6,86.1,10.5:0,7,0:0,0,0:93,51,81:25,85,59:36,28,9:-,NM_014704.3(CEP104) c.1317+26_1317+27insA:-,NOT_FOUND:-,NOT_FOUND 1 3753136 rs2275824 A T 365 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.6973,T/0.3027;Gene=CEP104/NM_014704.3/1;CC=c.1240T>A;ProtCh=p.L414I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:99:40:0:0:99:3176:364.62:105.98:258.64:1.00:1.00:1.00:60:42.7:0:0:73:77:28:NM_014704.3(CEP104) c.1240T>A (p.Leu414Ile),NM_014704.3(CEP104) c.1240T>A (p.Leu414Ile):0.34,0.34:0.329002,0.329002 1 3753257 . C . . NT END=3753855;NT GT ./. 1 3754084 . C . . NT END=3755527;NT GT ./. 1 3755675 rs1891941 T C 277 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.2105,C/0.7895;PC=0.992;Gene=CEP104/NM_014704.3/1;CC=c.744A>G;ProtCh=p.E248=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:73:32:0:0:73:2426:277.38:83.27:194.12:1.00:1.00:1.00:60:37.4:0:0:94:54:32:NM_014704.3(CEP104) c.744A>G (p.(=)),NM_014704.3(CEP104) c.744A>G (p.(=)):0.8,0.8:0.939566,0.939566 1 3755684 . C . . NT END=3756171;NT GT ./. 1 3755869 rs1891940 T C 54 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2105,C/0.7895;Gene=CEP104/NM_014704.3/1;CC=c.736-186A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:3:0:0:15:473:54.45:10.93:43.52:1.00:1.00:1.00:60:73.7:0:0:85:66:42:NM_014704.3(CEP104) c.736-186A>G,NM_014704.3(CEP104) c.736-186A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3755875 rs1891939 T G 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2105,G/0.7895;Gene=CEP104/NM_014704.3/1;CC=c.736-192A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:3:0:0:14:462:52.88:10.73:42.15:1.00:1.00:1.00:60:76.6:0:0:85:65:42:NM_014704.3(CEP104) c.736-192A>C,NM_014704.3(CEP104) c.736-192A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3756120 rs1539649 A G 103 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.6156,G/0.3844;Gene=CEP104/NM_014704.3/1;CC=c.735+52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A,G:31:27:0:0:1,30:32,905:0.00,102.80:0.00,72.40:0.00,30.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,33.8:0,0:0,0:60,59:91,91:0,31:NM_014704.3(CEP104) c.735+52T>C,NM_014704.3(CEP104) c.735+52T>C:0.42,0.42:0.392845,0.392845 1 3756341 . C . . NT END=3761470;NT GT ./. 1 3756493 rs7535887 T C 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1911,C/0.8089;Gene=CEP104/NM_014704.3/1;CC=c.567-153A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:331:38.34:0.00:38.34:1.00:0.00:1.00:60:56.1:0:0:107:44:11:NM_014704.3(CEP104) c.567-153A>G,NM_014704.3(CEP104) c.567-153A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 3756532 rs10797346 T C 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6154,C/0.3846;Gene=CEP104/NM_014704.3/1;CC=c.567-192A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:273:31.12:0.00:31.12:1.00:0.00:1.00:60:67.0:0:0:139:11:7:NM_014704.3(CEP104) c.567-192A>G,NM_014704.3(CEP104) c.567-192A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 1 3761479 rs2275822 C T 169 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.6506,G/.,T/0.3494;PC=0.005;Gene=CEP104/NM_014704.3/1;CC=c.558G>A;ProtCh=p.T186=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:38:0:0:44:1483:169.28:109.24:60.04:1.00:1.00:1.00:60:37.1:0:0:47:92:27:NM_014704.3(CEP104) c.558G>A (p.(=)),NM_014704.3(CEP104) c.558G>A (p.(=)):0.37,0.37:0.376672,0.376672 1 3761548 . C . . NT END=3761852;NT GT ./. 1 3761650 rs2275821 A G 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.2107,G/0.7893;Gene=CEP104/NM_014704.3/1;CC=c.490-103T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:10:0:0:26:848:97.17:32.55:64.62:1.00:1.00:1.00:60:35.3:0:0:83:65:22:NM_014704.3(CEP104) c.490-103T>C,NM_014704.3(CEP104) c.490-103T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3761916 . C . . NT END=3764038;NT GT ./. 1 3762076 rs6699784 T C 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6556,C/0.3444;PC=0.001;Gene=CEP104/NM_014704.3/1;CC=c.427-161A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:322:37.39:0.00:37.39:1.00:0.00:1.00:60:67.4:0:0:99:52:9:NM_014704.3(CEP104) c.427-161A>G,NM_014704.3(CEP104) c.427-161A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 1 3762080 rs6699785 T C 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2109,C/0.7891;Gene=CEP104/NM_014704.3/1;CC=c.427-165A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:326:37.37:0.00:37.37:1.00:0.00:1.00:60:71.4:0:0:101:49:8:NM_014704.3(CEP104) c.427-165A>G,NM_014704.3(CEP104) c.427-165A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3763864 rs12047360 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6983,A/0.3017;Gene=CEP104/NM_014704.3/1;CC=c.426+175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:53.5:0:0:56:94:7:NM_014704.3(CEP104) c.426+175C>T,NM_014704.3(CEP104) c.426+175C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 3764178 . C . . NT END=3765171;NT GT ./. 1 3765095 rs372411835 C CAAAAA 19 idl,nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=8;PC=0.004;Gene=CEP104/NM_014704.3/1;CC=c.287+76_287+77insTTTTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C,CAAAAA:9:14:11:0:1,2,6:31,70,358:2.37,0.00,19.47:2.37,0.00,19.47:0.00,0.00,0.00:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.00:60,60,60:31.0,0.0,46.8:0,0,5:0,0,0:0,127,56:151,17,94:0,6,40:-,NM_014704.3(CEP104) c.287+76_287+77insTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 3765346 . C . . NT END=3768858;NT GT ./. 1 3765549 rs4648346 G A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2143,A/0.7857;Gene=CEP104/NM_014704.3/1;CC=c.114-204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:107:12.55:0.00:12.55:1.00:0.00:1.00:60:69.8:0:0:100:50:23:NM_014704.3(CEP104) c.114-204C>T,NM_014704.3(CEP104) c.114-204C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 1 3768719 rs1539647 T C 95 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.5651,C/0.4349;Gene=CEP104/NM_014704.3/1;CC=c.113+140A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:28:0:0:28:814:94.65:92.76:1.89:1.00:1.00:1.00:60:69.4:0:0:37:113:30:NM_014704.3(CEP104) c.113+140A>G,NM_014704.3(CEP104) c.113+140A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 3768729 rs1539648 T C 123 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.5613,C/0.4387;Gene=CEP104/NM_014704.3/1;CC=c.113+130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:33:0:0:34:1069:122.96:120.02:2.94:1.00:1.00:1.00:60:62.1:0:0:33:117:23:NM_014704.3(CEP104) c.113+130A>G,NM_014704.3(CEP104) c.113+130A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 3768986 . C . . NT END=3772437;NT GT ./. 1 3772275 rs4648348 G T 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6939,T/0.3061;PC=0.001;Gene=CEP104/NM_014704.3/1;CC=c.-15+1178C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:12:0:0:13:376:43.76:39.98:3.78:1.00:1.00:1.00:60:62.1:0:0:56:94:42:NM_014704.3(CEP104) c.-15+1178C>A,NM_014704.3(CEP104) c.-15+1178C>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 3772532 . G . . NT END=3774167;NT GT ./. 1 3774282 . G . . NT END=3775281;NT GT ./. 1 3775431 . G . . NT END=3782325;NT GT ./. 1 3775454 rs4376673 C G 471 nt VT=SNV;PN=C;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.1867,G/0.8133;Gene=DFFB/NM_001282669.1/1;CC=c.263+24C>G;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.241+46C>G;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:129:73:0:0:129:4097:471.20:176.31:294.89:1.00:1.00:1.00:60:49.9:0:0:96:50:33:NM_004402.2(DFFB) c.241+46C>G,NM_004402.2(DFFB) c.241+46C>G:0.82,0.82:0.954406,0.954406 1 3782565 . G . . NT END=3784537;NT GT ./. 1 3782608 rs10909809 C T 172 nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.5657,T/0.4343;PC=0.005;Gene=DFFB/NM_001282669.1/1;CC=c.502+44C>T;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.430+44C>T;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:T:48:12:0:0:48:1496:172.34:22.36:149.97:1.00:1.00:1.00:60:40.2:0:0:102:45:23:NM_004402.2(DFFB) c.430+44C>T,NM_004402.2(DFFB) c.430+44C>T:0.47,0.47:0.594383,0.594383 1 3784618 . G . . NT END=3786168;NT GT ./. 1 3786189 rs1141070 G A 423 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=G/0.7857,A/0.2143;PC=0.005;Gene=DFFB/NM_001282669.1/1;CC=c.603G>A;ProtCh=p.T201=;VC=Silent;Gene=DFFB/NM_004402.3/0;CC=c.531G>A;ProtCh=p.T177=;VC=Silent;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:114:90:0:0:113,1:3696,7:422.86,0.04:255.88,0.04:166.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,7.0:0,0:0,0:66,150:83,1:30,0:NM_004402.2(DFFB) c.531G>A (p.(=)),NM_004402.2(DFFB) c.531G>A (p.(=)):0.23,0.23:0.306858,0.306858 1 3786340 . G . . NT END=3789035;NT GT ./. 1 3786612 rs5013486 C T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7173,T/0.2827;Gene=DFFB/NM_001282669.1/1;CC=c.753+273C>T;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.681+273C>T;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G,T:7:0:0:0:1,6:10,171:0.67,19.53:0.00,0.00:0.67,19.53:0.00,1.00:0.00,0.00:0.00,1.00:60,60:134.0,52.5:0,0:0,0:132,101:19,49:0,16:NM_004402.2(DFFB) c.681+273C>T,NM_004402.2(DFFB) c.681+273C>T:0.31,0.31:NOT_FOUND,NOT_FOUND 1 3788968 rs111645751 G A 70 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.9077,A/0.09225;Gene=DFFB/NM_001282669.1/1;CC=c.754-68G>A;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.682-68G>A;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:38:0:0:22,18:716,495:70.22,0.00:55.61,0.00:14.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.2,15.8:0,0:0,0:72,28:78,122:49,26:NM_004402.2(DFFB) c.682-68G>A,-:0.13,-:NOT_FOUND,- 1 3788978 rs202230553 G GA 15 idl,rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=2;NP=2;Gene=DFFB/NM_001282669.1/1;CC=c.754-45_754-44insA;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.682-45_682-44insA;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:G,GA,D:41:39:7:3:33,6,2:1036,224,65:0.00,14.89,4.12:0.00,11.17,4.29:0.00,3.72,-0.17:0.00,0.87,0.00:0.00,0.99,0.00:0.00,0.85,0.00:60,60,60:40.2,16.8,0.0:0,1,0:0,0,0:59,15,19:92,132,131:40,12,8:-,NM_004402.2(DFFB) c.682-58_682-57insA:-,NOT_FOUND:-,NOT_FOUND 1 3789137 . G . . NT END=3789577;NT GT ./. 1 3789178 rs202183040 G GGGCCCTGTCCCTGCCGC 7 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=DFFB/NM_001282669.1/1;CC=c.854+58_854+59insCGGCCCTGTCCCTGCCG;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.782+58_782+59insCGGCCCTGTCCCTGCCG;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,G,GGGCCCTGTCCCTGCCGC:26:8:3:0:1,22,3:21,714,99:0.81,0.00,7.35:-0.08,0.00,-0.27:0.90,0.00,7.61:0.00,0.00,0.45:0.00,0.00,0.58:0.00,0.00,0.88:60,60,60:28.0,53.6,31.0:0,0,0:0,0,0:0,118,27:151,27,124:0,18,7:-,NM_004402.2(DFFB) c.782+42_782+43insGGCCCTGTCCCTGCCGC:-,NOT_FOUND:-,NOT_FOUND 1 3789195 rs11581401 T C 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5745,C/0.4255;Gene=DFFB/NM_001282669.1/1;CC=c.854+59T>C;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.782+59T>C;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:27:8:0:0:27:749:87.38:26.74:60.64:1.00:1.00:1.00:60:59.8:0:0:108:42:29:NM_004402.2(DFFB) c.782+59T>C,NM_004402.2(DFFB) c.782+59T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 1 3789211 rs75402433 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=DFFB/NM_001282669.1/1;CC=c.854+75A>G;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.782+75A>G;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:5:0:0:12,8:347,237:0.00,21.64:0.00,-0.15:0.00,21.79:0.00,0.99:0.00,0.46:0.00,0.96:60,60:38.7,119.6:0,0:0,0:42,125:99,25:26,8:-,NM_004402.2(DFFB) c.782+75A>G:-,0.21:-,NOT_FOUND 1 3789212 rs79548119 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=DFFB/NM_001282669.1/1;CC=c.854+76T>C;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.782+76T>C;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:5:0:0:9,11:232,302:21.51,0.00:2.86,0.00:18.65,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:114.1,35.8:0,0:0,0:125,53:25,80:9,25:NM_004402.2(DFFB) c.782+76T>C,-:0.22,-:NOT_FOUND,- 1 3789229 . C T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;NP=1;PC=0.004;Gene=DFFB/NM_001282669.1/1;CC=c.854+93C>T;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.782+93C>T;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:21:6:0:0:16,5:464,144:0.00,11.79:0.00,-0.71:0.00,12.50:0.00,0.85:0.00,0.78:0.00,0.96:60,60:29.8,139.2:0,0:0,0:45,136:105,9:31,6:-,NM_004402.2(DFFB) c.782+93C>T:-,NOT_FOUND:-,NOT_FOUND 1 3789582 . g . . NT END=3800070;NT GT ./. 1 3789662 rs11581471 A G 88 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.3648,G/0.6352;PC=0.067;Gene=DFFB/NM_001282669.1/1;CC=c.854+526A>G;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.782+526A>G;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:2:0:0:26:759:88.16:5.44:82.72:1.00:1.00:1.00:60:34.4:0:0:105:44:27:NM_004402.2(DFFB) c.782+526A>G,NM_004402.2(DFFB) c.782+526A>G:0.62,0.62:NOT_FOUND,NOT_FOUND 1 3789814 rs66849805 A C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7802,C/0.2198;PC=0.001;Gene=DFFB/NM_001282669.1/1;CC=c.854+678A>C;VC=Intron;Gene=DFFB/NM_004402.3/0;CC=c.782+678A>C;VC=Intron;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:95:11.28:0.00:11.28:1.00:0.00:1.00:60:62.8:0:0:134:15:10:NM_004402.2(DFFB) c.782+678A>C,NM_004402.2(DFFB) c.782+678A>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 3800242 rs3205087 A G 163 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.6442,G/0.3558;Gene=DFFB/NM_001282669.1/1;CC=c.1026A>G;ProtCh=p.P342=;VC=Silent;Gene=DFFB/NM_004402.3/0;CC=c.954A>G;ProtCh=p.P318=;VC=Silent;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:107:64:0:0:52,54,1:1680,1697,11:0.00,163.37,-0.09:0.00,53.11,0.02:0.00,110.27,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,48:6.3,40.2,276.0:0,0,0:0,0,0:60,67,56:82,77,85:31,31,0:-,NM_004402.2(DFFB) c.954A>G (p.(=)):-,0.37:-,0.412886 1 3800306 . C . . NT END=3806523;NT GT ./. 1 3800480 rs7555538 G T 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6444,T/0.3556;PC=0.002;Gene=DFFB/NM_001282669.1/1;CC=c.*175G>T;VC=3UTR;Gene=DFFB/NM_004402.3/0;CC=c.*175G>T;VC=3UTR;Gene=DFFB/NR_104222.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:15:0:0:0:8,7:257,207:0.00,19.50:0.00,0.00:0.00,19.50:0.00,0.99:0.00,0.00:0.00,0.99:60,60:12.1,60.6:0,0:0,0:97,62:53,60:37,22:-,NM_004402.2(DFFB) c.*175G>T:-,0.35:-,NOT_FOUND 1 3806638 . C . . NT END=3807132;NT GT ./. 1 3807593 rs4274008 G C 328 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.002196,C/0.9978;NP=3462;PC=0.345;Gene=C1orf174/NM_207356.2/1;CC=c.158C>G;ProtCh=p.T53R;VC=Missense;DM=C1orf174/UPF0688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:89:33:0:0:88,1:2876,10:327.75,0.00:95.74,0.00:232.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,145.0:0,1:0,0:79,102:63,49:36,0:NM_207356.2(C1orf174) c.158C>G (p.Thr53Arg),NM_207356.2(C1orf174) c.158C>G (p.Thr53Arg):1,1:0.994075,0.994075 1 3807622 . C . . NT END=3808189;NT GT ./. 1 3808171 rs6701422 T C 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.2851,C/0.7149;Gene=C1orf174/NM_207356.2/1;CC=c.130-550A>G;VC=Intron;DM=C1orf174/UPF0688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:53:0:0:24,38:804,1135:73.89,0.00:59.25,0.00:14.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,12.6:0,0:0,0:69,47:80,103:25,29:NM_207356.2(C1orf174) c.130-550A>G,-:0.72,-:NOT_FOUND,- 1 3808344 . C . . NT END=3809304;NT GT ./. 1 3809110 rs59232452 C A 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.026;Gene=C1orf174/NM_207356.2/1;CC=c.129+337G>T;VC=Intron;DM=C1orf174/UPF0688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,C:9:9:0:0:3,6:93,175:8.25,0.00:8.25,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:51,51:51.3,35.8:0,0:0,0:28,47:123,90:24,24:NM_207356.2(C1orf174) c.129+337G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 3809561 . C . . NT END=3816735;NT GT ./. 1 3816751 . G . . NT END=4715485;NT GT ./. 1 3816892 rs56283700 TCC T 13 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.431;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:TCC,I,T:31:12:1:12:23,1,7:697,28,296:0.00,1.45,13.41:0.00,1.63,-0.75:0.00,-0.18,14.16:0.00,0.00,0.94:0.00,0.00,0.88:0.00,0.00,0.99:60,60,60:29.0,13.0,179.3:1,0,5:0,0,0:143,133,102:5,18,40:3,0,18:-,NM_207356.2(C1orf174) c.-107-u37_-107-u36delGG:-,NOT_FOUND:-,NOT_FOUND 1 3816893 rs71634382 C T 26 idl;end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.511 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:9:0:14:11,9:311,278:0.00,26.12:0.00,7.93:0.00,18.19:0.00,1.00:0.00,0.99:0.00,1.00:60,60:26.0,40.7:2,0:0,0:139,144:7,7:5,3:-,NM_207356.2(C1orf174) c.-107-u36G>A:-,0.39:-,NOT_FOUND 1 3816895 rs75740327 C T 16 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.390 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:22:4:0:7:15,7:454,185:0.00,15.86:0.00,1.04:0.00,14.82:0.00,0.97:0.00,0.79:0.00,1.00:60,60:31.7,115.7:2,6:0,0:144,105:5,28:3,7:-,NM_207356.2(C1orf174) c.-107-u38G>A:-,NOT_FOUND:-,NOT_FOUND 1 4204538 rs201517767 C T 6 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,T,I:4:3:2:0:1,2,1:34,65,48:0.00,6.44,2.98:0.00,3.16,2.98:0.00,3.28,0.00:0.00,0.46,0.00:0.00,0.80,0.00:0.00,0.70,0.00:60,60,33:0.0,170.5,366.0:0,2,1:0,0,0:73,11,30:77,140,120:0,0,14:-,chr1 g.4204537C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 4204560 rs56397723 T C 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:8:7:0:0:6,2:205,67:21.41,0.00:10.85,0.00:10.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:175.0,49.5:0,0:0,0:42,17:105,126:26,8:chr1 g.4204559T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 4204588 rs113882262 A T 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=19;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,T:8:7:0:0:5,3:173,104:0.00,9.53:0.00,4.92:0.00,4.62:0.00,0.67:0.00,0.95:0.00,0.95:60,60:116.2,190.0:0,0:0,0:53,71:82,79:16,32:-,chr1 g.4204587A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 4204593 rs112330453 T C 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=129 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:7:6:0:0:2,5:72,167:6.34,0.00:3.17,0.00:3.17,0.00:0.39,0.00:0.85,0.00:0.85,0.00:33,60:183.0,131.6:0,0:0,0:92,58:58,77:16,16:chr1 g.4204592T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 4204601 rs143636971 T C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:C,T:8:7:0:0:4,4:130,135:12.50,0.00:6.25,0.00:6.25,0.00:0.87,0.00:0.99,0.00:0.99,0.00:60,60:204.0,116.2:0,0:0,0:54,100:64,50:8,25:chr1 g.4204600T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 4204604 rs140123228 C T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:8:7:0:0:4,4:128,123:0.00,11.80:0.00,5.90:0.00,5.90:0.00,0.87:0.00,0.99:0.00,0.99:60,60:116.2,206.5:0,0:0,0:103,57:47,68:25,8:-,chr1 g.4204603C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 4204633 rs111457220 T C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=92 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:6:4:0:0:3,3:99,103:9.52,0.00:5.21,0.00:4.31,0.00:0.73,0.00:0.51,0.00:0.96,0.00:60,60:155.0,136.0:0,1:0,0:116,82:34,42:18,7:chr1 g.4204632T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 4204649 rs61768843 T C 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.493,C/0.507;NP=38;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,T:7:5:0:1:6,1:202,33:21.82,0.00:11.13,0.00:10.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:148.5,0.0:0,0:0,0:115,98:16,45:21,0:chr1 g.4204648T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 4204657 rs200846720 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=37;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:7:5:0:0:4,3:139,101:0.00,9.46:0.00,6.57:0.00,2.88:0.00,0.69:0.00,0.93:0.00,0.95:60,60:156.0,123.3:1,0:0,0:115,122:24,22:15,18:-,chr1 g.4204656C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 4204778 rs62641251 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:119:13.80:7.50:6.30:1.00:1.00:1.00:60:172.2:0:0:95:23:5:chr1 g.4204777C>T (intergenic),chr1 g.4204777C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 4204786 rs56328141 A C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:131:15.01:7.50:7.50:1.00:1.00:1.00:60:172.2:0:0:103:15:5:chr1 g.4204785A>C (intergenic),chr1 g.4204785A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 4204789 rs112318085 C T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:125:14.41:7.15:7.25:1.00:1.00:1.00:60:184.5:0:0:103:14:2:chr1 g.4204788C>T (intergenic),chr1 g.4204788C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 4715515 . G . . NT END=4771959;NT GT ./. 1 4771665 rs989309 G C 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4413,C/0.5587;PC=0.002;Gene=AJAP1/NM_001042478.1/0;CC=c.30-295G>C;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.30-295G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:126:14.51:14.51:0.00:1.00:1.00:0.00:60:80.5:0:0:24:126:4:NM_018836.3(AJAP1) c.30-295G>C,NM_018836.3(AJAP1) c.30-295G>C:0.52,0.52:NOT_FOUND,NOT_FOUND 1 4771695 rs989310 G C 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4958,C/0.5042;Gene=AJAP1/NM_001042478.1/0;CC=c.30-265G>C;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.30-265G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:153:17.64:17.64:0.00:1.00:1.00:0.00:60:89.8:0:0:53:97:5:NM_018836.3(AJAP1) c.30-265G>C,NM_018836.3(AJAP1) c.30-265G>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 4772717 rs242056 G A 398 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.6392,A/0.3608,T/.;PC=0.859;Gene=AJAP1/NM_001042478.1/0;CC=c.787G>A;ProtCh=p.G263R;VC=Missense;Gene=AJAP1/NM_018836.3/1;CC=c.787G>A;ProtCh=p.G263R;VC=Missense;DM=AJAP1/AJAP1_PANP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:108:52:0:0:107,1:3479,5:398.36,0.02:133.01,0.00:265.35,0.02:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,128.0:0,0:0,0:94,68:54,82:35,0:NM_018836.3(AJAP1) c.787G>A (p.Gly263Arg),NM_018836.3(AJAP1) c.787G>A (p.Gly263Arg):0.41,0.41:0.524066,0.524066 1 4772760 . G . . NT END=4829912;NT GT ./. 1 4829835 rs2072901 A G 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.7855,G/0.2145;Gene=AJAP1/NM_001042478.1/0;CC=c.830-78A>G;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.830-78A>G;VC=Intron;DM=AJAP1/AJAP1_PANP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:16:0:0:9,11:290,291:0.00,28.26:0.00,16.77:0.00,11.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,30.6:0,0:0,0:33,23:118,123:10,14:-,NM_018836.3(AJAP1) c.830-78A>G:-,0.18:-,NOT_FOUND 1 4830001 . G . . NT END=4832339;NT GT ./. 1 4832143 rs111647192 ATTT A 59 idl,nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=ATTT/0.4137,A/0.5863;NP=259;PC=0.013;Gene=AJAP1/NM_001042478.1/0;CC=c.918-187_918-185delTTT;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.918-187_918-185delTTT;VC=Intron;DM=AJAP1/AJAP1_PANP_C;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:ATTT,A:18:20:0:19:1,17:35,596:0.00,59.28:0.00,59.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:29.0,87.9:0,2:0,0:134,39:6,110:0,22:NM_018836.3(AJAP1) c.918-196_918-194delTTT,NM_018836.3(AJAP1) c.918-196_918-194delTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 4832154 rs200961619 T A 56 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4137,A/0.5863;NP=3;PC=0.001;Gene=AJAP1/NM_001042478.1/0;CC=c.918-186T>A;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.918-186T>A;VC=Intron;DM=AJAP1/AJAP1_PANP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,T:19:19:0:0:17,2:509,66:56.20,0.00:56.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:75.7,103.5:16,2:0,0:55,31:96,118:29,14:NM_018836.3(AJAP1) c.918-186T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 4832155 rs74449743 T A 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3816,A/0.6184;NP=558;PC=0.003;Gene=AJAP1/NM_001042478.1/0;CC=c.918-185T>A;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.918-185T>A;VC=Intron;DM=AJAP1/AJAP1_PANP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:20:0:0:20:611:70.57:70.57:0.00:1.00:1.00:0.00:60:76.3:2:0:44:105:18:NM_018836.3(AJAP1) c.918-185T>A,NM_018836.3(AJAP1) c.918-185T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 4832586 . G . . NT END=4834486;NT GT ./. 1 4834196 rs9426504 G A 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8413,A/0.1587;Gene=AJAP1/NM_001042478.1/0;CC=c.1164-291G>A;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.1164-291G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:4:0:0:3,1:93,32:9.75,0.00:9.75,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:110.0,70.0:0,0:0,0:69,34:81,117:2,0:NM_018836.3(AJAP1) c.1164-291G>A,-:0.17,-:NOT_FOUND,- 1 4834202 rs451162 G C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2808,C/0.7192;Gene=AJAP1/NM_001042478.1/0;CC=c.1164-285G>C;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.1164-285G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:100.0:0:0:74:76:17:NM_018836.3(AJAP1) c.1164-285G>C,NM_018836.3(AJAP1) c.1164-285G>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 4834229 rs388631 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.281,C/0.719;Gene=AJAP1/NM_001042478.1/0;CC=c.1164-258T>C;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.1164-258T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:102.2:0:0:67:84:35:NM_018836.3(AJAP1) c.1164-258T>C,NM_018836.3(AJAP1) c.1164-258T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 4834420 rs12747519 C T 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8379,T/0.1621;Gene=AJAP1/NM_001042478.1/0;CC=c.1164-67C>T;VC=Intron;Gene=AJAP1/NM_018836.3/1;CC=c.1164-67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:26:0:0:15,13:488,443:0.00,42.10:0.00,36.83:0.00,5.27:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.8,41.5:0,0:0,0:32,38:118,113:18,15:-,NM_018836.3(AJAP1) c.1164-67C>T:-,0.17:-,NOT_FOUND 1 4834560 . C . . NT END=5923323;NT GT ./. 1 4834606 rs389959 T C 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8413,C/0.1587;PC=1.000;Gene=AJAP1/NM_001042478.1/0;CC=c.*47T>C;VC=3UTR;Gene=AJAP1/NM_018836.3/1;CC=c.*47T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:28:8:0:0:1,14,13:10,466,448:0.08,45.15,0.00:-0.02,12.62,0.00:0.10,32.53,0.00:0.00,1.00,0.00:0.00,0.87,0.00:0.00,1.00,0.00:60,60,60:74.0,43.7,3.8:0,0,0:0,0,0:44,122,100:106,23,51:0,14,30:NM_018836.3(AJAP1) c.*47T>C,-:0.16,-:0.263955,- 1 5068955 rs10915311 A C 11 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4547,C/0.5453 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:1:0:0:4:90:10.87:1.99:8.88:1.00:1.00:1.00:60:103.8:0:0:67:61:27:chr1 g.5068954A>C (intergenic),chr1 g.5068954A>C (intergenic):0.51,0.51:NOT_FOUND,NOT_FOUND 1 5141073 rs12045197 A T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4101,T/0.5899;NP=120;PC=0.143 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:131:15.01:7.15:7.85:1.00:1.00:1.00:70:76.8:0:0:78:73:17:chr1 g.5141072A>T (intergenic),chr1 g.5141072A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 5218840 rs61762209 T TACAC 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.353,TAC/.,TACACAC/0.647,TACACACAC/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=15;NP=17;NP=3;NP=38;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TACAC:6:4:5:0:2,4:67,157:0.00,12.90:0.00,6.88:0.00,6.02:0.00,0.90:0.00,0.97:0.00,0.97:60,70:0.0,16.5:0,1:0,0:117,48:33,102:3,42:-,chr1 g.5218840_5218841insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 5219270 rs200859670 TAAACAC T 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;PC=0.086;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T:2:4:0:4:2:134:7.05:5.26:1.79:0.51:0.51:0.67:60:37.0:2:0:49:100:12:chr1 g.5219271_5219276delAAACAC (intergenic),chr1 g.5219271_5219276delAAACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 5339195 rs57757672 TTGTG C,T 9 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=65;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:C,T:4:5:0:5:1,3:13,148:1.01,8.92:1.01,5.35:0.00,3.58:0.00,0.73:0.00,0.96:0.00,0.89:60,60:155.0,6.0:0,2:0,0:122,90:16,59:0,11:chr1 g.5339195_5339199delTTGTGinsC (intergenic),chr1 g.5339196_5339199delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 5451992 rs568832783 T TGC 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9764,C/0.02356;NP=214;NP=4;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:T,TGC:4:2:2:0:2,2:48,67:0.00,6.46:0.00,1.49:0.00,4.96:0.00,0.51:0.00,0.79:0.00,0.89:60,60:123.5,0.0:0,0:0,0:58,64:92,87:57,48:-,chr1 g.5451992_5451993insGC (intergenic):-,0.42:-,NOT_FOUND 1 5576604 rs70977954 AACACAC A 15 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.081;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:AACACAC,A:6:7:0:6:1,5:34,173:0.00,15.40:0.00,10.91:0.00,4.49:0.00,0.98:0.00,0.98:0.00,1.00:60,70:0.0,14.6:0,1:0,0:130,35:21,89:0,15:-,chr1 g.5576605_5576610delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 5873771 rs55759711 A G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2268,G/0.7732 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:2:0:0:6:135:16.27:5.01:11.26:1.00:1.00:1.00:60:59.5:0:0:76:75:25:chr1 g.5873770A>G (intergenic),chr1 g.5873770A>G (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 1 5923466 . C . . NT END=5923948;NT GT ./. 1 5923788 rs11121648 T G 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4974,G/0.5026;Gene=NPHP4/NM_001291593.1/0;CC=c.2601+162A>C;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.2604+162A>C;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.4140+162A>C;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:18:0:0:18:566:65.14:65.14:0.00:1.00:1.00:0.00:60:41.9:0:0:55:95:36:NM_015102.3(NPHP4) c.4140+162A>C,NM_015102.3(NPHP4) c.4140+162A>C:0.48,0.48:NOT_FOUND,NOT_FOUND 1 5924094 . C . . NT END=5924396;NT GT ./. 1 5924518 rs115526767 G A 137 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=91;DB;DBA=in-clinvar;PAF=G/0.9956,A/0.004393;NP=49;Gene=NPHP4/NM_001291593.1/0;CC=c.2337C>T;ProtCh=p.G779=;VC=Silent;Gene=NPHP4/NM_001291594.1/0;CC=c.2340C>T;ProtCh=p.G780=;VC=Silent;Gene=NPHP4/NM_015102.4/1;CC=c.3876C>T;ProtCh=p.G1292=;VC=Silent;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:63:0:0:44,47:1439,1564:137.47,0.00:73.94,0.00:63.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,9.6:0,0:0,0:82,60:64,83:29,36:NM_015102.3(NPHP4) c.3876C>T (p.(=)),-:0.01,-:0.011257,- 1 5924578 . C . . NT END=5925160;NT GT ./. 1 5924726 rs114555857 A C 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.9704,C/0.02955;Gene=NPHP4/NM_001291593.1/0;CC=c.2278-149T>G;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.2281-149T>G;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.3817-149T>G;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:16:2:0:0:7,9:217,280:0.00,27.53:0.00,-0.72:0.00,28.25:0.00,1.00:0.00,0.84:0.00,1.00:60,60:20.7,76.8:0,0:0,0:70,119:81,27:47,9:-,NM_015102.3(NPHP4) c.3817-149T>G:-,0.04:-,NOT_FOUND 1 5924746 rs1287635 T C 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6693,C/0.3307;Gene=NPHP4/NM_001291593.1/0;CC=c.2278-169A>G;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.2281-169A>G;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.3817-169A>G;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:C,T:14:2:0:0:7,7:177,209:16.75,0.00:-0.60,0.00:17.35,0.00:0.99,0.00:0.79,0.00:0.98,0.00:60,60:89.6,20.7:0,0:0,0:136,90:12,61:11,47:NM_015102.3(NPHP4) c.3817-169A>G,-:0.33,-:NOT_FOUND,- 1 5925334 . C . . NT END=5926431;NT GT ./. 1 5925371 rs1287634 G A 164 nt VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.6821,A/0.3179;Gene=NPHP4/NM_001291593.1/0;CC=c.2106-38C>T;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.2109-38C>T;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.3645-38C>T;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:105:48:0:0:54,1,50:1693,6,1601:163.74,-0.18,0.00:38.41,-0.07,0.00:125.33,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,25.0,5.9:0,0,0:0,0,0:107,132,106:39,19,36:27,0,23:NM_015102.3(NPHP4) c.3645-38C>T,-:0.32,-:0.337902,- 1 5926507 rs555164 T C 82 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=in-clinvar;PAF=T/0.6803,C/0.3197;PC=0.992;Gene=NPHP4/NM_001291593.1/0;CC=c.2031A>G;ProtCh=p.E677=;VC=Silent;Gene=NPHP4/NM_001291594.1/0;CC=c.2034A>G;ProtCh=p.E678=;VC=Silent;Gene=NPHP4/NM_015102.4/1;CC=c.3570A>G;ProtCh=p.E1190=;VC=Silent;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:55:0:0:27,47:900,1481:81.80,0.00:40.00,0.00:41.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,6.9:0,0:0,0:77,73:63,71:17,30:NM_015102.3(NPHP4) c.3570A>G (p.(=)),-:0.32,-:0.349018,- 1 5926519 . C . . NT END=5927088;NT GT ./. 1 5927176 . C . . NT END=5927798;NT GT ./. 1 5927957 . C . . NT END=5933310;NT GT ./. 1 5928133 rs78598342 C T 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9251,T/0.07488;Gene=NPHP4/NM_001291593.1/0;CC=c.1777-177G>A;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.1780-177G>A;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.3316-177G>A;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:12:0:0:0:6,6:191,185:0.00,17.75:0.00,0.00:0.00,17.75:0.00,0.98:0.00,0.00:0.00,0.98:60,60:9.7,46.2:0,0:0,0:84,88:65,61:35,33:-,NM_015102.3(NPHP4) c.3316-177G>A:-,0.08:-,NOT_FOUND 1 5933396 . C . . NT END=5934529;NT GT ./. 1 5934490 rs868163 A G 293 nt VT=SNV;PN=C;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.4307,G/0.5693;Gene=NPHP4/NM_001291593.1/0;CC=c.1692+41T>C;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.1695+41T>C;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.3231+41T>C;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:80:0:0:83:2535:292.84:235.39:57.45:1.00:1.00:1.00:60:52.8:0:0:47:103:31:NM_015102.3(NPHP4) c.3231+41T>C,NM_015102.3(NPHP4) c.3231+41T>C:0.54,0.54:0.672916,0.672916 1 5934500 rs905467 T C 143 nt VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.7288,C/0.2712;Gene=NPHP4/NM_001291593.1/0;CC=c.1692+31A>G;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.1695+31A>G;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.3231+31A>G;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:92:89:0:0:1,44,47:10,1498,1425:-0.12,143.50,0.00:-0.07,112.84,0.00:-0.05,30.66,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:50.0,64.9,34.2:0,0,0:0,0,0:31,63,47:120,87,103:0,31,32:NM_015102.3(NPHP4) c.3231+31A>G,-:0.26,-:0.174984,- 1 5934718 . C . . NT END=5934932;NT GT ./. 1 5934837 rs1287638 C T 69 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.595,T/0.405;Gene=NPHP4/NM_001291593.1/0;CC=c.1505+97G>A;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.1508+97G>A;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.3044+97G>A;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:23:0:0:27,24:816,729:0.00,69.01:0.00,29.61:0.00,39.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.4,53.7:0,0:0,0:46,62:104,87:35,34:-,NM_015102.3(NPHP4) c.3044+97G>A:-,0.39:-,NOT_FOUND 1 5935161 . C . . NT END=5937151;NT GT ./. 1 5935162 rs1287637 A T 328 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.1567,A/0.8433;PC=0.037;Gene=NPHP4/NM_001291593.1/0;CC=c.1279-2T>A;VC=SpliceSiteCDS;Gene=NPHP4/NM_001291594.1/0;CC=c.1282-2T>A;VC=SpliceSiteCDS;Gene=NPHP4/NM_015102.4/1;CC=c.2818-2T>A;VC=SpliceSiteCDS;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:86:41:0:0:86:2870:327.88:95.15:232.73:1.00:1.00:1.00:60:55.0:0:0:93:44:26:NM_015102.3(NPHP4) c.=,NM_015102.3(NPHP4) c.=:0.83,0.83:0.843133,0.843133 1 5935222 rs963030 T C 163 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.638,C/0.362;Gene=NPHP4/NM_001291593.1/0;CC=c.1279-62A>G;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.1282-62A>G;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.2818-62A>G;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:16:0:0:43:1425:162.95:34.54:128.41:1.00:1.00:1.00:60:68.5:0:0:110:41:20:NM_015102.3(NPHP4) c.2818-62A>G,NM_015102.3(NPHP4) c.2818-62A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 1 5937091 rs1622955 T C 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.09585,C/0.9042;Gene=NPHP4/NM_001291593.1/0;CC=c.1278+62A>G;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.1281+62A>G;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.2817+62A>G;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:63:0:0:32,32:1076,1038:103.62,0.00:93.99,0.00:9.62,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:37.0,2.9:0,0:0,0:67,32:84,118:35,21:NM_015102.3(NPHP4) c.2817+62A>G,-:0.9,-:NOT_FOUND,- 1 5937359 . C . . NT END=5940172;NT GT ./. 1 5937391 rs3747989 C T 138 nt VT=SNV;PN=A;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.1673,T/0.8327;Gene=NPHP4/NM_001291593.1/0;CC=c.1073-33G>A;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.1076-33G>A;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.2612-33G>A;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:20:0:0:29,44:832,1383:0.00,138.04:0.00,29.91:0.00,108.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.1,47.5:0,0:0,0:101,81:37,65:34,34:-,NM_015102.3(NPHP4) c.2612-33G>A:-,0.83:-,0.851553 1 5940300 . C . . NT END=5947344;NT GT ./. 1 5947527 . C . . NT END=5948403;NT GT ./. 1 5948671 . C . . NT END=5950926;NT GT ./. 1 5948677 rs2282281 G A 116 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.1661,A/0.8339;Gene=NPHP4/NM_001291593.1/0;CC=c.766-1151C>T;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.769-1151C>T;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.2305-1151C>T;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:80:38:0:0:36,43,1:1227,1321,33:116.24,0.00,1.64:35.83,0.00,-0.07:80.40,0.00,1.71:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.6,8.3,47.0:0,0,0:0,0,0:84,92,109:63,51,40:28,42,0:NM_015102.3(NPHP4) c.2305-1151C>T,-:0.83,-:0.842693,- 1 5948864 rs9729880 C T 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.862,T/0.138;PC=0.003;Gene=NPHP4/NM_001291593.1/0;CC=c.766-1338G>A;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.769-1338G>A;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.2305-1338G>A;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:12:0:0:0:4,8:108,253:0.00,25.83:0.00,0.00:0.00,25.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:24.5,34.8:0,0:0,0:134,109:16,41:6,6:-,NM_015102.3(NPHP4) c.2305-1338G>A:-,0.14:-,NOT_FOUND 1 5951089 . C . . NT END=5964675;NT GT ./. 1 5964865 . C . . NT END=5965350;NT GT ./. 1 5964991 rs3737234 T C 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.1671,C/0.8329;Gene=NPHP4/NM_001291593.1/0;CC=c.417-127A>G;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.420-127A>G;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.1956-127A>G;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:1:0:0:15,12:439,397:42.91,0.00:3.72,0.00:39.19,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:31.2,3.9:0,0:0,0:90,94:61,56:30,53:NM_015102.3(NPHP4) c.1956-127A>G,-:0.83,-:NOT_FOUND,- 1 5965544 . C . . NT END=5965690;NT GT ./. 1 5965844 . C . . NT END=5967173;NT GT ./. 1 5967064 rs9628990 G T 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9119,T/0.08806;Gene=NPHP4/NM_001291593.1/0;CC=c.76-1224C>A;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.76-1221C>A;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.1611+111C>A;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:G,T:13:13:0:0:8,5:237,151:0.00,13.71:0.00,13.71:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:5.2,54.2:0,0:0,0:16,69:135,81:3,5:-,NM_015102.3(NPHP4) c.1611+111C>A:-,0.09:-,NOT_FOUND 1 5967283 . C . . NT END=5969210;NT GT ./. 1 5969274 . C . . NT END=5987707;NT GT ./. 1 5987848 . C . . NT END=5993205;NT GT ./. 1 5993390 . C . . NT END=6007162;NT GT ./. 1 6007291 . C . . NT END=6008128;NT GT ./. 1 6007446 rs551207 C T 96 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.1917,T/0.8083;Gene=NPHP4/NM_001291593.1/0;CC=c.-374-156G>A;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.-374-156G>A;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.993-156G>A;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:C,T:29:0:0:0:1,28:13,843:0.00,95.91:0.00,0.00:0.00,95.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:126.0,47.3:0,0:0,0:150,102:1,48:0,32:NM_015102.3(NPHP4) c.993-156G>A,NM_015102.3(NPHP4) c.993-156G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 6007474 rs10779677 G A 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.3502,A/0.6498;Gene=NPHP4/NM_001291593.1/0;CC=c.-374-184C>T;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.-374-184C>T;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.993-184C>T;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:24:0:0:0:10,1,13:273,12,414:25.20,0.21,0.00:0.00,0.00,0.00:25.20,0.21,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:55.5,35.0,33.6:0,0,0:0,0,0:101,0,104:49,151,47:36,0,31:NM_015102.3(NPHP4) c.993-184C>T,-:0.65,-:NOT_FOUND,- 1 6008312 . C . . NT END=6012758;NT GT ./. 1 6012897 . C . . NT END=6021852;NT GT ./. 1 6022010 . C . . NT END=6027357;NT GT ./. 1 6027167 rs875574 C A 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3103,A/0.6897;PC=0.083;Gene=NPHP4/NM_001291593.1/0;CC=c.-713+192G>T;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.-850+192G>T;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.517+192G>T;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,C:12:12:0:0:7,5:216,174:21.38,0.00:21.38,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:60.6,0.0:0,0:0,0:55,12:96,139:25,8:NM_015102.3(NPHP4) c.517+192G>T,-:0.69,-:NOT_FOUND,- 1 6027252 rs875573 A G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3399,G/0.6601;Gene=NPHP4/NM_001291593.1/0;CC=c.-713+107T>C;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.-850+107T>C;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.517+107T>C;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:23:23:0:0:6,17:185,494:0.00,51.73:0.00,50.01:0.00,1.72:0.00,1.00:0.00,1.00:0.00,0.83:60,60:2.0,43.0:0,0:0,0:92,35:58,116:10,32:-,NM_015102.3(NPHP4) c.517+107T>C:-,0.66:-,NOT_FOUND 1 6027424 . C . . NT END=6029145;NT GT ./. 1 6029086 rs59913966 CA C 42 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=160;PC=0.030;Gene=NPHP4/NM_001291593.1/0;CC=c.-778+60delT;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.-915+60delT;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.452+60delT;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:24:26:3:15:8,2,14:265,100,448:0.00,5.25,41.61:0.00,5.27,34.76:0.00,-0.02,6.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,70:26.1,0.0,34.6:0,1,1:0,0,0:101,81,66:38,70,83:29,1,30:-,NM_015102.3(NPHP4) c.452+60delT:-,NOT_FOUND:-,NOT_FOUND 1 6029320 . C . . NT END=6038328;NT GT ./. 1 6038474 . C . . NT END=6046213;NT GT ./. 1 6038583 rs4908639 G C 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1611,C/0.8389;Gene=NPHP4/NM_001291593.1/0;CC=c.-1094-110C>G;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.-1087-9264C>G;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.136-110C>G;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:1:0:0:9,16:269,482:24.09,0.00:-0.10,0.00:24.19,0.00:1.00,0.00:0.57,0.00:1.00,0.00:60,60:52.3,9.2:0,0:0,0:126,93:25,58:16,43:NM_015102.3(NPHP4) c.136-110C>G,-:0.83,-:NOT_FOUND,- 1 6046350 . C . . NT END=6100628;NT GT ./. 1 6046432 rs1295111 C G 102 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.6122,G/0.3878;Gene=NPHP4/NM_001291593.1/0;CC=c.-1267-45G>C;VC=Intron;Gene=NPHP4/NM_001291594.1/0;CC=c.-1088+5872G>C;VC=Intron;Gene=NPHP4/NM_015102.4/1;CC=c.-38-45G>C;VC=Intron;Gene=NPHP4/NR_111987.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:79:29:0:0:46,33:1549,1097:0.00,102.11:0.00,22.37:0.00,79.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,47.6:0,0:0,0:101,117:47,34:28,20:-,NM_015102.3(NPHP4) c.-38-45G>C:-,0.38:-,NOT_FOUND 1 6077466 . CTGTGTG C,CTGTGTGTG 13 idl,nt VT=INS;SST=Single;DP=5;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:CTGTGTGTG,C:5:2:4:1:4,1:113,34:12.82,3.18:3.58,3.18:9.24,0.00:0.96,0.00:0.97,0.00:0.99,0.00:60,60:64.0,43.0:0,0:0,0:81,72:69,79:15,0:NM_001199861.1(KCNAB2) c.-52-23110_-52-23105delTGTGTG,NM_001199861.1(KCNAB2) c.-52-23106_-52-23105dupTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6087279 . AGTGTGTGTGTGTGT A 6 idl,nt VT=DEL;SST=Single;DP=5;NP=1;PC=0.001;Gene=KCNAB2/NM_001199861.1/0;CC=c.-52-13256_-52-13243delTGTGTGTGTGTGTG;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.-53+816_-53+829delTGTGTGTGTGTGTG;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.-53+816_-53+829delTGTGTGTGTGTGTG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:AGTGTGTGTGTGTGT,A:3:3:0:4:1,2:36,132:0.00,6.34:0.00,6.56:0.00,-0.22:0.00,0.46:0.00,0.80:0.00,0.87:39,60:12.0,69.5:0,2:0,0:96,48:41,102:0,12:-,NM_001199861.1(KCNAB2) c.-52-13297_-52-13284delGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 6100706 . G . . NT END=6101890;NT GT ./. 1 6100819 rs576762094 A T 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=KCNAB2/NM_001199861.1/0;CC=c.77+114A>T;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.77+114A>T;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.77+114A>T;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.77+114A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:0:0:0:10,10:282,292:0.00,27.92:0.00,0.00:0.00,27.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.9,57.2:0,0:0,0:74,76:74,74:30,41:-,NM_001199862.1(KCNAB2) c.-289-u5162A>T:-,NOT_FOUND:-,NOT_FOUND 1 6101771 rs1295086 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9461,T/0.05391;Gene=KCNAB2/NM_001199861.1/0;CC=c.78-120C>T;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.78-120C>T;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.77+1066C>T;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.78-120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:14:0:0:8,6:236,211:0.00,19.81:0.00,19.81:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:21.5,41.8:0,0:0,0:69,38:82,112:48,12:-,NM_001199862.1(KCNAB2) c.-289-u4210C>T:-,0.07:-,NOT_FOUND 1 6101933 . G . . NT END=6105980;NT GT ./. 1 6106244 . G . . NT END=6111570;NT GT ./. 1 6111815 . G . . NT END=6132814;NT GT ./. 1 6132859 . G . . NT END=6133792;NT GT ./. 1 6133831 . G . . NT END=6142254;NT GT ./. 1 6142335 . G . . NT END=6145263;NT GT ./. 1 6145309 . G . . NT END=6145799;NT GT ./. 1 6145365 rs2294936 A G 156 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.3135,G/0.6865;Gene=KCNAB2/NM_001199861.1/0;CC=c.326+57A>G;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.326+57A>G;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.284+57A>G;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.326+57A>G;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.425+57A>G;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.125+57A>G;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:G:45:20:0:0:45:1352:156.38:41.13:115.25:1.00:1.00:1.00:60:41.2:0:0:117:34:17:NM_001199862.1(KCNAB2) c.425+57A>G,NM_001199862.1(KCNAB2) c.425+57A>G:0.72,0.72:0.694481,0.694481 1 6145465 rs7512313 T G 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1526,G/0.8474;Gene=KCNAB2/NM_001199861.1/0;CC=c.326+157T>G;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.326+157T>G;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.284+157T>G;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.326+157T>G;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.425+157T>G;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.125+157T>G;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:399:45.62:0.00:45.62:1.00:0.00:1.00:60:58.5:0:0:94:56:33:NM_001199862.1(KCNAB2) c.425+157T>G,NM_001199862.1(KCNAB2) c.425+157T>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 6145881 rs3747978 T C 212 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.7732,C/0.2268;Gene=KCNAB2/NM_001199861.1/0;CC=c.326+573T>C;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.326+573T>C;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.284+573T>C;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.326+573T>C;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.425+573T>C;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.125+573T>C;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C:61:54:0:0:61:1832:212.12:152.81:59.31:1.00:1.00:1.00:60:43.5:0:0:37:104:24:NM_001199862.1(KCNAB2) c.425+573T>C,NM_001199862.1(KCNAB2) c.425+573T>C:0.25,0.25:NOT_FOUND,NOT_FOUND 1 6146161 rs12754107 C G 336 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.2845,G/0.7155;Gene=KCNAB2/NM_001199861.1/0;CC=c.326+853C>G;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.326+853C>G;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.284+853C>G;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.326+853C>G;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.425+853C>G;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.125+853C>G;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:90:52:0:0:90:2931:335.80:162.40:173.40:1.00:1.00:1.00:60:42.4:0:0:89:61:31:NM_001199862.1(KCNAB2) c.425+853C>G,NM_001199862.1(KCNAB2) c.425+853C>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 6146373 rs186761545 G A 79 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.9976,A/0.002396;NP=15;PC=0.001;Gene=KCNAB2/NM_001199861.1/0;CC=c.326+1065G>A;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.326+1065G>A;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.284+1065G>A;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.326+1065G>A;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.425+1065G>A;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.125+1065G>A;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:18:0:0:31,33:835,973:78.88,0.00:10.58,0.00:68.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.2,25.3:0,0:0,0:96,78:54,73:26,41:NM_001199862.1(KCNAB2) c.425+1065G>A,-:0.0041,-:NOT_FOUND,- 1 6146424 . T . . NT END=6147526;NT GT ./. 1 6147572 . G . . NT END=6149067;NT GT ./. 1 6148763 rs3040477 AAAT A 13 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AAAT/0.3375,A/0.6625;DB;DBA=NA;PAF=AAAT/0.3375,A/0.6625;NP=323;PC=0.015;Gene=KCNAB2/NM_001199861.1/0;CC=c.372-278_372-276delTAA;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.372-278_372-276delTAA;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.330-278_330-276delTAA;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.372-278_372-276delTAA;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.471-278_471-276delTAA;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.171-278_171-276delTAA;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AAAT,A:5:5:0:4:1,4:33,121:0.00,12.92:0.00,12.92:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:14.0,48.5:0,0:0,0:4,23:147,114:0,11:-,NM_001199862.1(KCNAB2) c.471-304_471-302delAAT:-,0.69:-,NOT_FOUND 1 6149112 . G . . NT END=6150448;NT GT ./. 1 6149286 rs7553754 G C 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1665,C/0.8335;PC=0.001;Gene=KCNAB2/NM_001199861.1/0;CC=c.415+175G>C;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.415+175G>C;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.373+175G>C;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.415+175G>C;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.514+175G>C;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.214+175G>C;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:319:37.09:0.00:37.09:1.00:0.00:1.00:60:63.7:0:0:109:42:25:NM_001199862.1(KCNAB2) c.514+175G>C,NM_001199862.1(KCNAB2) c.514+175G>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 6150536 . G . . NT END=6151322;NT GT ./. 1 6150637 rs12081978 C T 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5935,T/0.4065;Gene=KCNAB2/NM_001199861.1/0;CC=c.502+102C>T;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.502+102C>T;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.460+102C>T;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.502+102C>T;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.601+102C>T;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.301+102C>T;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C,T:19:1:0:0:1,18:5,589:0.00,66.36:0.00,3.45:0.00,62.90:0.00,1.00:0.00,0.96:0.00,1.00:60,60:96.0,38.7:0,0:0,0:46,110:88,40:0,20:NM_001199862.1(KCNAB2) c.601+102C>T,NM_001199862.1(KCNAB2) c.601+102C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 1 6151368 . G . . NT END=6154459;NT GT ./. 1 6154546 . G . . NT END=6155382;NT GT ./. 1 6155332 rs1555144 T C 263 nt VT=SNV;PN=C;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.2728,C/0.7272;Gene=KCNAB2/NM_001199861.1/0;CC=c.589-51T>C;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.589-51T>C;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.547-51T>C;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.589-51T>C;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.733-51T>C;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.388-51T>C;VC=Intron;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:67:0:0:75:2278:263.44:193.74:69.70:1.00:1.00:1.00:60:42.0:0:0:46:103:30:NM_001199862.1(KCNAB2) c.733-51T>C,NM_001199862.1(KCNAB2) c.733-51T>C:0.77,0.77:0.780026,0.780026 1 6155504 . G . . NT END=6155589;NT GT ./. 1 6155685 . G . . NT END=6156695;NT GT ./. 1 6155928 rs5772218 C CA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7111,CA/0.2889;NP=140;PC=0.089;Gene=KCNAB2/NM_001199861.1/0;CC=c.804+244_804+245insA;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.804+244_804+245insA;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.762+244_762+245insA;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.804+244_804+245insA;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.948+244_948+245insA;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.603+244_603+245insA;VC=Intron;DM=KCNAB2/Aldo_ket_red;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CA:4:0:4:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:6.0:0:0:106:44:23:NM_001199862.1(KCNAB2) c.948+244_948+245insA,NM_001199862.1(KCNAB2) c.948+244_948+245insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6156817 . G . . NT END=6157328;NT GT ./. 1 6157221 rs2235791 C T 44 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=KCNAB2/NM_001199861.1/0;CC=c.926-108C>T;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.926-108C>T;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.884-108C>T;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.926-108C>T;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.1070-108C>T;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.725-108C>T;VC=Intron;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:27:0:0:13,15:437,457:0.00,44.45:0.00,43.48:0.00,0.97:0.00,1.00:0.00,1.00:0.00,0.97:60,60:36.5,68.9:0,0:0,0:53,31:98,119:25,20:-,NM_001199862.1(KCNAB2) c.1070-108C>T:-,0.13:-,NOT_FOUND 1 6157282 rs749434 C T 197 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.737,T/0.263;Gene=KCNAB2/NM_001199861.1/0;CC=c.926-47C>T;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.926-47C>T;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.884-47C>T;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.926-47C>T;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.1070-47C>T;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.725-47C>T;VC=Intron;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:G,T:58:51:0:0:1,57:9,1708:0.13,197.33:0.13,136.35:0.00,60.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:64.0,44.1:0,0:0,0:95,42:56,102:0,28:NM_001199862.1(KCNAB2) c.1070-47C>T,NM_001199862.1(KCNAB2) c.1070-47C>T:0.29,0.29:0.3525,0.3525 1 6157434 rs2311802 C T 294 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.5459,T/0.4541;Gene=KCNAB2/NM_001199861.1/0;CC=c.1014+17C>T;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.1014+17C>T;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.972+17C>T;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.1014+17C>T;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.1158+17C>T;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.813+17C>T;VC=Intron;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:80:49:0:0:80:2558:293.77:122.53:171.24:1.00:1.00:1.00:60:40.6:0:0:84:63:32:NM_001199862.1(KCNAB2) c.1158+17C>T,NM_001199862.1(KCNAB2) c.1158+17C>T:0.46,0.46:0.570493,0.570493 1 6157517 . g . . NT END=6158209;NT GT ./. 1 6157993 rs1883769 T C 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7296,C/0.2704;Gene=KCNAB2/NM_001199861.1/0;CC=c.1015-552T>C;VC=Intron;Gene=KCNAB2/NM_003636.3/0;CC=c.1015-552T>C;VC=Intron;Gene=KCNAB2/NM_172130.2/0;CC=c.973-552T>C;VC=Intron;Gene=KCNAB2/NM_001199860.1/1;CC=c.1015-552T>C;VC=Intron;Gene=KCNAB2/NM_001199862.1/0;CC=c.1159-552T>C;VC=Intron;Gene=KCNAB2/NM_001199863.1/0;CC=c.814-552T>C;VC=Intron;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:328:37.57:37.57:0.00:1.00:1.00:0.00:60:37.3:0:0:20:130:14:NM_001199862.1(KCNAB2) c.1159-552T>C,NM_001199862.1(KCNAB2) c.1159-552T>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 6158562 rs2229002 A G 373 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.4561,G/0.5439;PC=0.001;Gene=KCNAB2/NM_001199861.1/0;CC=c.1032A>G;ProtCh=p.S344=;VC=Silent;Gene=KCNAB2/NM_003636.3/0;CC=c.1032A>G;ProtCh=p.S344=;VC=Silent;Gene=KCNAB2/NM_172130.2/0;CC=c.990A>G;ProtCh=p.S330=;VC=Silent;Gene=KCNAB2/NM_001199860.1/1;CC=c.1032A>G;ProtCh=p.S344=;VC=Silent;Gene=KCNAB2/NM_001199862.1/0;CC=c.1176A>G;ProtCh=p.S392=;VC=Silent;Gene=KCNAB2/NM_001199863.1/0;CC=c.831A>G;ProtCh=p.S277=;VC=Silent;DM=KCNAB2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:100:61:0:0:100:3258:373.40:151.40:222.01:1.00:1.00:1.00:60:43.4:0:0:76:73:31:NM_001199862.1(KCNAB2) c.1176A>G (p.(=)),NM_001199862.1(KCNAB2) c.1176A>G (p.(=)):0.56,0.56:0.61458,0.61458 1 6158635 . G . . NT END=6166339;NT GT ./. 1 6166348 . C . . NT END=6166454;NT GT ./. 1 6166570 . C . . NT END=6166675;NT GT ./. 1 6166840 . C . . NT END=6169854;NT GT ./. 1 6170051 . C . . NT END=6170453;NT GT ./. 1 6170587 . C . . NT END=6171834;NT GT ./. 1 6171944 . C . . NT END=6172199;NT GT ./. 1 6172338 . C . . NT END=6172968;NT GT ./. 1 6173059 . C . . NT END=6181164;NT GT ./. 1 6181298 . C . . NT END=6181553;NT GT ./. 1 6181634 . C . . NT END=6184007;NT GT ./. 1 6184168 . C . . NT END=6184576;NT GT ./. 1 6184722 . C . . NT END=6185159;NT GT ./. 1 6185294 . C . . NT END=6185583;NT GT ./. 1 6185673 . C . . NT END=6185825;NT GT ./. 1 6185919 . C . . NT END=6186631;NT GT ./. 1 6186807 . C . . NT END=6188105;NT GT ./. 1 6186961 rs2746060 A G 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=CHD5/NM_015557.2/1;CC=c.3904-155T>C;VC=Intron;DM=CHD5/DUF1087 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:0:0:0:22:570:67.31:0.00:67.31:1.00:0.00:1.00:60:49.1:0:0:110:38:36:NM_015557.2(CHD5) c.3904-155T>C,NM_015557.2(CHD5) c.3904-155T>C:1,1:NOT_FOUND,NOT_FOUND 1 6188279 . C . . NT END=6188558;NT GT ./. 1 6188670 . C . . NT END=6188897;NT GT ./. 1 6189130 . C . . NT END=6190263;NT GT ./. 1 6190389 . C . . NT END=6191690;NT GT ./. 1 6191809 . C . . NT END=6194187;NT GT ./. 1 6194320 . C . . NT END=6194777;NT GT ./. 1 6194920 . C . . NT END=6195289;NT GT ./. 1 6195464 . C . . NT END=6196576;NT GT ./. 1 6196699 . C . . NT END=6196787;NT GT ./. 1 6196926 . C . . NT END=6202187;NT GT ./. 1 6202389 . C . . NT END=6202473;NT GT ./. 1 6202666 . C . . NT END=6203882;NT GT ./. 1 6203992 . C . . NT END=6204083;NT GT ./. 1 6204216 . C . . NT END=6206271;NT GT ./. 1 6206484 . C . . NT END=6206724;NT GT ./. 1 6206932 . C . . NT END=6208913;NT GT ./. 1 6209136 . c . . NT END=6209305;NT GT ./. 1 6209473 . C . . NT END=6211091;NT GT ./. 1 6211216 . C . . NT END=6212471;NT GT ./. 1 6212597 . C . . NT END=6214719;NT GT ./. 1 6214959 . C . . NT END=6215658;NT GT ./. 1 6215778 . C . . NT END=6219395;NT GT ./. 1 6219287 rs140568531 TCA T 52 idl,rn VT=DEL;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=43;PC=0.002;Gene=CHD5/NM_015557.2/1;CC=c.387+107_387+108delTG;VC=Intron;DM=CHD5/SNF2_N;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCA,I,T:101:90:7:23:73,7,21:2207,233,700:0.00,16.25,51.63:0.00,15.56,38.41:0.00,0.69,13.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.1,2.4,19.0:0,0,2:0,0,0:47,54,40:100,95,109:32,25,17:-,NM_015557.2(CHD5) c.387+107_387+108delTG:-,NOT_FOUND:-,NOT_FOUND 1 6219576 . C . . NT END=6228209;NT GT ./. 1 6228338 . C . . NT END=6240004;NT GT ./. 1 6239808 . G C,GC 17 idl;end,nt VT=INS;SST=Single;DP=6;NP=261;DM=CHD5/Helicase_C;DM=CHD5/CHDCT2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:20:C,GC:6:6:5:0:1,5:29,153:2.60,17.29:2.60,15.49:0.00,1.80:0.00,0.99:0.00,0.99:0.00,0.89:60,60:119.0,4.8:0,0:0,0:0,39:151,112:0,10:NM_015557.2(CHD5) c.79+197C>G,NM_015557.2(CHD5) c.79+196_79+197insG:NOT_FOUND,0.98:NOT_FOUND,NOT_FOUND 1 6239937 rs70981314 C CG 130 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.001597,CG/0.9984;NP=220;PC=0.005;Gene=CHD5/NM_015557.2/1;CC=c.79+67_79+68insC;VC=Intron;DM=CHD5/Helicase_C;DM=CHD5/CHDCT2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C,CG:38:37:37:0:1,37:31,1140:0.00,129.61:0.00,109.60:0.00,20.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,18.3:0,0:0,0:123,42:1,107:0,15:NM_015557.2(CHD5) c.79+67_79+68insC,NM_015557.2(CHD5) c.79+67_79+68insC:0.98,0.98:NOT_FOUND,NOT_FOUND 1 6240084 . G . . NT END=6246731;NT GT ./. 1 6246877 . C . . NT END=6252989;NT GT ./. 1 6253115 . C . . NT END=6257711;NT GT ./. 1 6257817 . C . . NT END=6259429;NT GT ./. 1 6259634 . G . . NT END=6266595;NT GT ./. 1 6266787 . G . . NT END=6267438;NT GT ./. 1 6267572 . G . . NT END=6268940;NT GT ./. 1 6269086 . G . . NT END=6269174;NT GT ./. 1 6269120 . T G 20 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;Gene=RNF207/NM_207396.2/1;CC=c.469+35T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:G,T:75:55:0:1:13,62:284,1661:19.70,0.00:-2.67,0.00:22.36,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:43.8,11.1:0,0:0,0:49,89:66,62:22,42:NM_207396.2(RNF207) c.469+35T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 6269257 . G . . NT END=6269327;NT GT ./. 1 6269404 . G . . NT END=6269473;NT GT ./. 1 6269600 . G . . NT END=6269983;NT GT ./. 1 6270031 . G . . NT END=6270282;NT GT ./. 1 6270356 . G . . NT END=6270429;NT GT ./. 1 6270499 . G . . NT END=6270929;NT GT ./. 1 6270999 . G . . NT END=6271080;NT GT ./. 1 6271144 rs367717728 C T 125 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=NA;PC=0.027;Gene=RNF207/NM_207396.2/1;CC=c.1075C>T;ProtCh=p.R359C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:92:44:0:0:52,40:1585,1335:0.00,125.24:0.00,33.61:0.00,91.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,37.2:0,0:0,0:93,95:55,49:24,30:-,NM_207396.2(RNF207) c.1075C>T (p.Arg359Cys):-,NOT_FOUND:-,0.000238 1 6271179 . G . . NT END=6271926;NT GT ./. 1 6272114 . G . . NT END=6272290;NT GT ./. 1 6272137 rs709208 A G 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.6723,G/0.3277,T/.;PC=0.001;Gene=RNF207/NM_207396.2/1;CC=c.1296+24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:32:0:0:36,23:1176,747:0.00,68.56:0.00,28.13:0.00,40.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,55.2:0,0:0,0:87,90:45,60:33,36:-,NM_207396.2(RNF207) c.1296+24A>G:-,0.37:-,NOT_FOUND 1 6272477 . G . . NT END=6272741;NT GT ./. 1 6272794 . G . . NT END=6273125;NT GT ./. 1 6273244 . G . . NT END=6278348;NT GT ./. 1 6278414 rs709209 A G 55 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.5629,G/0.4371;Gene=RNF207/NM_207396.2/1;CC=c.1718A>G;ProtCh=p.N573S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:30:0:0:27,18:869,600:0.00,55.43:0.00,30.08:0.00,25.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,48.3:0,0:0,0:101,96:43,49:27,13:-,NM_207396.2(RNF207) c.1718A>G (p.Asn573Ser):-,0.4:-,0.451166 1 6278430 . G . . NT END=6279295;NT GT ./. 1 6279370 rs846111 G C 123 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.8275,C/0.1725;Gene=RNF207/NM_207396.2/1;CC=c.1808G>C;ProtCh=p.G603A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:75:48:0:0:38,37:1270,1236:122.52,0.00:64.89,0.00:57.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,11.2:0,0:0,0:95,70:55,79:21,44:NM_207396.2(RNF207) c.1808G>C (p.Gly603Ala),-:0.17,-:0.199431,- 1 6279468 . C . . NT END=6285139;NT GT ./. 1 6285323 . C . . NT END=6291961;NT GT ./. 1 6291918 . TA T 10 idl,rn VT=DEL;SST=Single;DP=35;NP=19;PC=0.001;Gene=ICMT/NM_012405.3/1;CC=c.672+43delT;VC=Intron;DM=ICMT/ICMT;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,TA,I,T:33:33:3:6:2,24,3,4:59,778,97,185:3.76,0.00,7.00,9.88:3.81,0.00,7.08,6.23:-0.05,0.00,-0.08,3.65:0.00,0.00,0.00,0.61:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.45:60,60,60,60:52.0,11.2,18.7,2.0:1,0,0,2:0,0,0,0:9,39,16,19:141,111,135,115:8,25,3,7:-,NM_012405.3(ICMT) c.672+43delT:-,NOT_FOUND:-,0.0783 1 6292180 . C . . NT END=6293533;NT GT ./. 1 6293704 . C . . NT END=6294945;NT GT ./. 1 6295035 . C . . NT END=6295776;NT GT ./. 1 6295972 . g . . NT END=6304425;NT GT ./. 1 6296238 rs9970334 T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3936,G/0.6064 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:G,T:6:0:0:0:4,2:124,43:12.67,0.00:0.00,0.00:12.67,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:80.5,27.5:0,0:0,0:142,133:4,17:5,15:NM_012405.3(ICMT) c.-73-u194A>C,-:0.57,-:NOT_FOUND,- 1 6304454 rs114198341 A G 135 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.9928,G/0.007188;NP=62;PC=1.000;Gene=HES3/NM_001024598.3/1;CC=c.29A>G;ProtCh=p.N10S;VC=Missense;DM=HES3/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:86:0:0:56,42:1830,1440:0.00,134.96:0.00,97.91:0.00,37.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,38.0:0,0:0,0:77,68:68,71:31,21:-,NM_001024598.3(HES3) c.29A>G (p.Asn10Ser):-,0.01:-,0.008854 1 6304507 . G . . NT END=6304607;NT GT ./. 1 6304690 . G . . NT END=6305169;NT GT ./. 1 6305292 rs61760836 C A 129 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.4421,A/0.5579;PC=0.724;Gene=HES3/NM_001024598.3/1;CC=c.286C>A;ProtCh=p.P96T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:112:87:0:0:48,64:1398,2139:129.37,0.00:70.00,0.00:59.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.6,8.0:0,0:0,0:67,82:75,64:29,29:NM_001024598.3(HES3) c.286C>A (p.Pro96Thr),-:0.57,-:0.66121,- 1 6305303 rs61760837 C A 159 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.4425,A/0.5575;PC=0.001;Gene=HES3/NM_001024598.3/1;CC=c.297C>A;ProtCh=p.A99=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:115:87:0:0:52,63:1682,1963:158.58,0.00:87.57,0.00:71.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.6,8.6:0,0:0,0:74,90:72,61:41,30:NM_001024598.3(HES3) c.297C>A (p.(=)),-:0.56,-:0.683312,- 1 6305568 . A . . NT END=6309397;NT GT ./. 1 6310685 . C . . NT END=6311397;NT GT ./. 1 6311618 . C . . NT END=6313777;NT GT ./. 1 6314208 . C . . NT END=6314609;NT GT ./. 1 6314393 rs72632578 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9615,T/0.03854;Gene=GPR153/NM_207370.2/1;CC=c.357-186G>A;VC=Intron;DM=GPR153/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:C,T:13:4:0:0:8,5:228,112:0.00,9.78:0.00,5.23:0.00,4.55:0.00,0.91:0.00,0.86:0.00,0.98:60,60:12.2,71.0:0,0:0,0:108,117:40,34:16,17:-,NM_207370.2(GPR153) c.357-186G>A:-,0.03:-,NOT_FOUND 1 6314966 . G . . NT END=6324656;NT GT ./. 1 6324756 . C . . NT END=6341161;NT GT ./. 1 6341347 . C . . NT END=6342783;NT GT ./. 1 6342857 . C . . NT END=6354923;NT GT ./. 1 6355041 . C . . NT END=6366275;NT GT ./. 1 6366943 . C . . NT END=6378551;NT GT ./. 1 6378639 . C . . NT END=6387358;NT GT ./. 1 6387474 . C . . NT END=6393536;NT GT ./. 1 6393629 . C . . NT END=6399492;NT GT ./. 1 6399650 . C . . NT END=6409808;NT GT ./. 1 6399799 rs57275707 G GT 16 idl,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=1;NP=1;Gene=ACOT7/NM_181866.2/0;CC=c.139-151_139-150insA;VC=Intron;Gene=ACOT7/NM_181865.2/0;CC=c.202-151_202-150insA;VC=Intron;Gene=ACOT7/NM_181864.2/0;CC=c.292-151_292-150insA;VC=Intron;Gene=ACOT7/NM_007274.3/1;CC=c.262-151_262-150insA;VC=Intron;DM=ACOT7/4HBT;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:G,GT,D:33:0:11:5:23,7,3:689,316,141:0.00,16.15,6.20:0.00,0.00,0.00:0.00,16.15,6.20:0.00,0.94,0.00:0.00,0.00,0.00:0.00,0.94,0.00:60,60,60:22.1,51.0,55.3:0,4,2:0,0,0:115,101,91:36,50,60:31,18,15:-,NM_181864.2(ACOT7) c.292-151_292-150insA:-,NOT_FOUND:-,NOT_FOUND 1 6409927 . C . . NT END=6418885;NT GT ./. 1 6419005 . C . . NT END=6420629;NT GT ./. 1 6420784 . C . . NT END=6445553;NT GT ./. 1 6445884 . A . . NT END=6453316;NT GT ./. 1 6453460 . A . . NT END=6478932;NT GT ./. 1 6453520 . C CG 218 nt VT=INS;SST=Single;DP=64;NP=6;PC=0.624;Gene=ACOT7/NM_007274.3/1;CC=c.-62_-61insC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:C,CG:64:28:62:0:2,62:63,1927:0.00,218.39:0.00,50.36:0.00,168.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,12.1:0,0:0,0:100,107:1,38:1,20:NM_007274.3(ACOT7) c.-62_-61insC,NM_007274.3(ACOT7) c.-62_-61insC:0.97,0.97:NOT_FOUND,NOT_FOUND 1 6479214 . C . . NT END=6479300;NT GT ./. 1 6479401 . C . . NT END=6479666;NT GT ./. 1 6479763 . C . . NT END=6479835;NT GT ./. 1 6479980 . G . . NT END=6484537;NT GT ./. 1 6484626 . A . . NT END=6485015;NT GT ./. 1 6485310 . G . . NT END=6488285;NT GT ./. 1 6488480 . G . . NT END=6500313;NT GT ./. 1 6500501 . G . . NT END=6500685;NT GT ./. 1 6500608 rs200448900 C G 92 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ESPN/NM_031475.2/1;CC=c.676-78C>G;VC=Intron;DM=ESPN/Ank_2;DM=ESPN/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C,G:31:29:0:0:3,28:67,831:0.00,92.19:0.00,90.86:0.00,1.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:101.0,118.4:4,0:0,0:25,80:123,64:24,37:NM_031475.2(ESPN) c.676-78C>G,NM_031475.2(ESPN) c.676-78C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6500610 . A C 84 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;Gene=ESPN/NM_031475.2/1;CC=c.676-76A>C;VC=Intron;DM=ESPN/Ank_2;DM=ESPN/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:A,C,G,D:31:29:0:2:1,27,1,2:25,741,5,54:0.00,84.35,0.06,3.96:0.00,81.74,0.06,1.31:0.00,2.61,0.00,2.64:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:153.0,117.3,149.0,75.0:1,0,0,0:0,0,0,0:73,82,100,15:55,63,51,122:0,38,0,12:NM_031475.2(ESPN) c.676-76A>C,NM_031475.2(ESPN) c.676-76A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6500611 . C A 90 sb;idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;Gene=ESPN/NM_031475.2/1;CC=c.676-75C>A;VC=Intron;DM=ESPN/Ank_2;DM=ESPN/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A,G,D:30:28:0:6:28,1,1:778,9,17:90.12,0.22,0.77:88.39,0.00,0.77:1.73,0.22,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:118.4,19.0,153.0:0,0,0:0,0,0:83,0,74:61,151,54:37,0,0:NM_031475.2(ESPN) c.676-75C>A,NM_031475.2(ESPN) c.676-75C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6500626 rs371548369 C CG 105 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=85;PC=0.004;Gene=ESPN/NM_031475.2/1;CC=c.676-57_676-56insG;VC=Intron;DM=ESPN/Ank_2;DM=ESPN/Ank_4;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,G,CG:39:31:32:0:4,3,32:87,74,950:0.00,5.43,104.69:0.00,4.13,75.61:0.00,1.30,29.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:75.5,102.7,82.9:2,1,0:0,0,0:116,117,36:23,34,110:30,15,21:-,NM_031475.2(ESPN) c.676-60_676-59insG:-,NOT_FOUND:-,NOT_FOUND 1 6500869 . G . . NT END=6500993;NT GT ./. 1 6501126 . G . . NT END=6504540;NT GT ./. 1 6504743 . G . . NT END=6505723;NT GT ./. 1 6505996 . G . . NT END=6508700;NT GT ./. 1 6509152 . G . . NT END=6510503;NT GT ./. 1 6510531 . G . . NT END=6511662;NT GT ./. 1 6511809 . G . . NT END=6511892;NT GT ./. 1 6512157 . G . . NT END=6517243;NT GT ./. 1 6512262 . C CT 9 idl,rn VT=INS;SST=Single;DP=49;PC=0.001;Gene=ESPN/NM_031475.2/1;CC=c.2325+118_2325+119insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T,CT,D:48:11:5:2:41,1,4,2:1340,10,162,47:0.00,-0.18,8.85,2.17:0.00,0.06,2.64,1.72:0.00,-0.23,6.20,0.45:0.00,0.00,0.56,0.00:0.00,0.00,0.54,0.00:0.00,0.00,0.93,0.00:60,60,60,60:13.2,10.0,3.2,31.5:0,0,1,0:0,0,0,0:119,124,79,85:32,18,72,66:25,0,19,30:-,NM_031475.2(ESPN) c.2325+106_2325+107insT:-,NOT_FOUND:-,NOT_FOUND 1 6517324 . G . . NT END=6517420;NT GT ./. 1 6517433 . G . . NT END=6520058;NT GT ./. 1 6520207 . A . . NT END=6521493;NT GT ./. 1 6521823 . C . . NT END=6522053;NT GT ./. 1 6522235 . C . . NT END=6522576;NT GT ./. 1 6522727 . C . . NT END=6522922;NT GT ./. 1 6523031 . C . . NT END=6523124;NT GT ./. 1 6523208 . C . . NT END=6524170;NT GT ./. 1 6524514 . C . . NT END=6524611;NT GT ./. 1 6524780 . C . . NT END=6525147;NT GT ./. 1 6525283 . C . . NT END=6525499;NT GT ./. 1 6525896 . G . . NT END=6526128;NT GT ./. 1 6525920 rs11574660 C T 170 nt VT=SNV;PN=G;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.9411,T/0.05891;Gene=TNFRSF25/NM_003790.2/0;CC=c.39+209G>A;VC=Intron;Gene=TNFRSF25/NM_148965.1/1;CC=c.39+209G>A;VC=Intron;Gene=TNFRSF25/NM_148966.1/0;CC=c.39+209G>A;VC=Intron;Gene=TNFRSF25/NM_148967.1/0;CC=c.39+209G>A;VC=Intron;Gene=TNFRSF25/NM_148970.1/0;CC=c.39+209G>A;VC=Intron;Gene=TNFRSF25/NM_001039664.1/0;CC=c.39+209G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:128:73:0:0:67,2,59:2216,22,1802:0.00,-0.09,170.46:0.00,0.01,58.79:0.00,-0.10,111.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.9,99.5,44.0:0,0,0:0,0,0:101,90,97:47,46,51:23,10,23:-,NM_148965.1(TNFRSF25) c.39+209G>A:-,0.05:-,NOT_FOUND 1 6526546 . g . . NT END=6527622;NT GT ./. 1 6527633 . C . . NT END=6527884;NT GT ./. 1 6528647 . C . . NT END=6529101;NT GT ./. 1 6529302 . C . . NT END=6529394;NT GT ./. 1 6529511 . C . . NT END=6529603;NT GT ./. 1 6529737 . C . . NT END=6530295;NT GT ./. 1 6530416 . C . . NT END=6530565;NT GT ./. 1 6530704 . C . . NT END=6530794;NT GT ./. 1 6530945 . C . . NT END=6531049;NT GT ./. 1 6530965 rs112662590 C CG 233 nt VT=INS;SST=Single;DP=78;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1151;Gene=PLEKHG5/NM_001265593.1/0;CC=c.1600-22dupC;VC=Intron;Gene=PLEKHG5/NM_001042665.1/0;CC=c.1393-22dupC;VC=Intron;Gene=PLEKHG5/NM_001042664.1/0;CC=c.1393-22dupC;VC=Intron;Gene=PLEKHG5/NM_001265594.1/0;CC=c.1393-22dupC;VC=Intron;Gene=PLEKHG5/NM_020631.4/0;CC=c.1393-22dupC;VC=Intron;Gene=PLEKHG5/NM_001265592.1/0;CC=c.1630-22dupC;VC=Intron;Gene=PLEKHG5/NM_001042663.1/0;CC=c.1561-22dupC;VC=Intron;Gene=PLEKHG5/NM_198681.3/1;CC=c.1624-22dupC;VC=Intron;DM=PLEKHG5/RhoGEF;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,G,CG:78:42:69:0:8,1,69:195,29,2106:0.00,1.46,232.65:0.00,1.49,96.70:0.00,-0.03,135.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:19.8,236.0,13.3:0,0,0:0,0,0:147,0,85:4,143,61:2,0,29:-,NM_001265592.1(PLEKHG5) c.1630-22_1630-21insC:-,1:-,0.993414 1 6531161 . C . . NT END=6531547;NT GT ./. 1 6531698 . C . . NT END=6531817;NT GT ./. 1 6531869 . C . . NT END=6532586;NT GT ./. 1 6532683 . C . . NT END=6533045;NT GT ./. 1 6533235 . C . . NT END=6533310;NT GT ./. 1 6533515 . C . . NT END=6534072;NT GT ./. 1 6534225 . C . . NT END=6534510;NT GT ./. 1 6534648 . C . . NT END=6535106;NT GT ./. 1 6535199 . C . . NT END=6535521;NT GT ./. 1 6535583 . C . . NT END=6535990;NT GT ./. 1 6536097 . C . . NT END=6537588;NT GT ./. 1 6537719 . C . . NT END=6545383;NT GT ./. 1 6545530 . G . . NT END=6545895;NT GT ./. 1 6546015 . G . . NT END=6550504;NT GT ./. 1 6550655 . A . . NT END=6551696;NT GT ./. 1 6551762 . A . . NT END=6556552;NT GT ./. 1 6556630 . C . . NT END=6557018;NT GT ./. 1 6557154 rs575328880 G A 139 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.9906,A/0.009385;NP=17;Gene=PLEKHG5/NM_001265592.1/0;CC=c.-63C>T;VC=5UTR;Gene=PLEKHG5/NM_001042663.1/0;CC=c.4+226C>T;VC=Intron;Gene=PLEKHG5/NM_198681.3/1;CC=c.68-525C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:53:0:0:45,42:1436,1332:138.86,0.00:49.46,0.00:89.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,18.9:0,0:0,0:78,76:73,62:42,42:NM_001265592.1(PLEKHG5) c.-63C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 6557157 . G . . NT END=6557379;NT GT ./. 1 6557485 . g . . NT END=6579504;NT GT ./. 1 6579572 . G . . NT END=6585913;NT GT ./. 1 6579607 rs1556035 C T 170 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.254,T/0.746;PC=0.001;Gene=PLEKHG5/NM_198681.3/1;CC=c.-36G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:T:46:27:0:0:46:1483:170.18:77.42:92.76:1.00:1.00:1.00:60:46.2:0:0:105:39:22:NM_198681.3(PLEKHG5) c.-36G>A,NM_198681.3(PLEKHG5) c.-36G>A:0.77,0.77:0.77437,0.77437 1 6579843 rs1010584 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2646,T/0.7354;Gene=PLEKHG5/NM_198681.3/1;CC=c.-272G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:112:13.06:0.00:13.06:1.00:0.00:1.00:60:41.5:0:0:109:41:28:NM_198681.3(PLEKHG5) c.-272G>A,NM_198681.3(PLEKHG5) c.-272G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 1 6585804 rs13513 C T 95 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.2584,T/0.7416;Gene=NOL9/NM_024654.4/1;CC=c.*110G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:27:0:0:27:818:94.57:85.08:9.49:1.00:1.00:1.00:60:47.1:0:0:36:115:27:NM_024654.4(NOL9) c.*110G>A,NM_024654.4(NOL9) c.*110G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 6586064 . C . . NT END=6586755;NT GT ./. 1 6586070 rs7548042 C T 209 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.02057,G/.,T/0.9794;PC=0.031;Gene=NOL9/NM_024654.4/1;CC=c.1960-7G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:30:0:0:56:1826:209.24:81.23:128.01:1.00:1.00:1.00:60:37.4:0:0:80:67:35:NM_024654.4(NOL9) c.1960-7G>A,NM_024654.4(NOL9) c.1960-7G>A:0.98,0.98:0.975473,0.975473 1 6586553 rs2274553 C T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2823,T/0.7177;Gene=NOL9/NM_024654.4/1;CC=c.1959+203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:373:43.02:43.02:0.00:1.00:1.00:0.00:60:38.1:0:0:69:82:29:NM_024654.4(NOL9) c.1959+203G>A,NM_024654.4(NOL9) c.1959+203G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 6586890 . C . . NT END=6589053;NT GT ./. 1 6589232 . C . . NT END=6592027;NT GT ./. 1 6591937 rs932112 T C 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=NOL9/NM_024654.4/1;CC=c.1647+91A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:14:0:0:15:520:59.15:55.88:3.28:1.00:1.00:1.00:60:37.2:0:0:43:108:31:NM_024654.4(NOL9) c.1647+91A>G,NM_024654.4(NOL9) c.1647+91A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 6592140 . C . . NT END=6592522;NT GT ./. 1 6592821 . C . . NT END=6593339;NT GT ./. 1 6593502 . C . . NT END=6601889;NT GT ./. 1 6601773 rs3761927 T C 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.2179,C/0.7821;Gene=NOL9/NM_024654.4/1;CC=c.1075+117A>G;VC=Intron;DM=NOL9/CLP1_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:401:45.82:45.82:0.00:1.00:1.00:0.00:60:37.9:0:0:81:69:39:NM_024654.4(NOL9) c.1075+117A>G,NM_024654.4(NOL9) c.1075+117A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 6601988 . C . . NT END=6604885;NT GT ./. 1 6605063 . C . . NT END=6605104;NT GT ./. 1 6605241 . C . . NT END=6609630;NT GT ./. 1 6609559 rs11122091 C A 153 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.2823,A/0.7177;Gene=NOL9/NM_024654.4/1;CC=c.744+72G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:39:0:0:42:1332:153.17:126.78:26.39:1.00:1.00:1.00:60:37.5:0:0:71:79:30:NM_024654.4(NOL9) c.744+72G>T,NM_024654.4(NOL9) c.744+72G>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 6609759 . C . . NT END=6610455;NT GT ./. 1 6609851 rs10864622 A G 178 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.01757,G/0.9824;PC=0.001;Gene=NOL9/NM_024654.4/1;CC=c.617-93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:G:49:15:0:0:49:1549:178.20:38.06:140.14:1.00:1.00:1.00:60:62.2:0:0:107:44:29:NM_024654.4(NOL9) c.617-93T>C,NM_024654.4(NOL9) c.617-93T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 6609896 rs11579888 G A 115 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.2328,A/0.7672;Gene=NOL9/NM_024654.4/1;CC=c.617-138C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:4:0:0:32:999:115.12:7.11:108.01:1.00:1.00:1.00:60:83.1:0:0:73:76:40:NM_024654.4(NOL9) c.617-138C>T,NM_024654.4(NOL9) c.617-138C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 6609958 rs11581831 C T 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.2328,T/0.7672;Gene=NOL9/NM_024654.4/1;CC=c.617-200G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:1:0:0:23:723:83.22:3.58:79.64:1.00:1.00:1.00:60:79.6:0:0:95:55:31:NM_024654.4(NOL9) c.617-200G>A,NM_024654.4(NOL9) c.617-200G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 6610086 . C T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;Gene=NOL9/NM_024654.4/1;CC=c.617-328G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:6:1:0:0:2,4:70,129:0.00,13.15:0.00,3.50:0.00,9.65:0.00,0.93:0.00,0.78:0.00,0.99:60,60:33.0,77.5:0,0:0,0:111,72:40,76:31,16:-,NM_024654.4(NOL9) c.617-328G>A:-,NOT_FOUND:-,NOT_FOUND 1 6610097 rs36059388 AT A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AT/0.2821,A/0.7179;NP=15;PC=0.001;Gene=NOL9/NM_024654.4/1;CC=c.617-340delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AT,A:4:1:0:3:2,2:68,98:0.00,6.31:0.00,-0.22:0.00,6.54:0.00,0.46:0.00,0.60:0.00,0.87:60,60:100.5,70.5:0,1:0,0:65,91:84,60:13,2:-,NM_024654.4(NOL9) c.617-340delA:-,NOT_FOUND:-,NOT_FOUND 1 6610153 rs6683334 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2326,A/0.7674;Gene=NOL9/NM_024654.4/1;CC=c.616+303C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:133:15.21:3.98:11.23:1.00:1.00:1.00:60:77.2:0:0:138:10:6:NM_024654.4(NOL9) c.616+303C>T,NM_024654.4(NOL9) c.616+303C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 1 6610366 rs2063805 T C 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2298,C/0.7702;PC=0.001;Gene=NOL9/NM_024654.4/1;CC=c.616+90A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:18:0:0:19:645:73.56:69.58:3.98:1.00:1.00:1.00:60:66.2:0:0:82:68:27:NM_024654.4(NOL9) c.616+90A>G,NM_024654.4(NOL9) c.616+90A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 6610382 rs2063806 C T 85 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.2326,T/0.7674;Gene=NOL9/NM_024654.4/1;CC=c.616+74G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:23:0:0:24:735:84.88:81.01:3.88:1.00:1.00:1.00:60:59.9:0:0:73:77:42:NM_024654.4(NOL9) c.616+74G>A,NM_024654.4(NOL9) c.616+74G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 6610676 . C . . NT END=6614166;NT GT ./. 1 6610743 rs34186512 C CT 21 sb;idl,rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5409,CT/0.4591;NP=1;NP=3;PC=0.018;Gene=NOL9/NM_024654.4/1;CC=c.397-69_397-68insA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CT,D:24:8:11:3:1,12,1,8,2:10,384,10,325,94:0.10,0.00,0.10,21.01,4.48:0.20,0.00,-0.09,-0.80,-0.18:-0.10,0.00,0.18,21.81,4.65:0.00,0.00,0.00,0.98,0.00:0.00,0.00,0.00,0.90,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:109.0,16.5,97.0,19.0,44.5:0,0,0,3,1:0,0,0,0,0:143,121,130,45,107:8,18,-23,106,43:0,9,0,27,5:-,NM_024654.4(NOL9) c.397-69_397-68insA:-,NOT_FOUND:-,NOT_FOUND 1 6614391 rs6693391 A C 538 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=A/0.04373,C/0.9563,T/.;PC=0.795;Gene=NOL9/NM_024654.4/1;CC=c.172T>G;ProtCh=p.S58A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:148:106:0:0:147,1:4692,8:538.43,0.04:313.49,0.00:224.95,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.3,47.0:0,0:0,0:77,7:71,144:40,0:NM_024654.4(NOL9) c.=,NM_024654.4(NOL9) c.=:0.96,0.96:0.961256,0.961256 1 6614415 rs6693400 A G 526 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=150;DB;DBA=NA;PAF=A/0.02017,G/0.9798;PC=0.793;Gene=NOL9/NM_024654.4/1;CC=c.148T>C;ProtCh=p.W50R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:150:107:0:0:2,147,1:23,4575,10:0.42,525.65,0.07:0.42,272.36,0.00:0.00,253.29,0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:120.0,72.2,31.0:0,0,0:0,0,0:135,54,42:15,95,109:14,33,0:NM_024654.4(NOL9) c.=,NM_024654.4(NOL9) c.=:0.98,0.98:0.972997,0.972997 1 6614535 rs4908923 G A 631 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=G/0.2778,A/0.7222,C/.;PC=0.003;Gene=NOL9/NM_024654.4/1;CC=c.28C>T;ProtCh=p.R10W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:176:104:0:0:175,1:5487,10:631.40,0.06:276.33,0.00:355.07,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.6,16.0:0,0:0,0:83,120:65,31:33,0:NM_024654.4(NOL9) c.28C>T (p.Arg10Trp),NM_024654.4(NOL9) c.28C>T (p.Arg10Trp):0.75,0.75:0.786797,0.786797 1 6614563 . G . . NT END=6615407;NT GT ./. 1 6614653 rs4908924 C G 440 nt VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=C/0.2382,G/0.7618;Gene=NOL9/NM_024654.4/1;CC=c.-91G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:122:65:0:0:122:3819:439.82:155.47:284.35:1.00:1.00:1.00:60:45.6:0:0:93:48:24:NM_024654.4(NOL9) c.-91G>C,NM_024654.4(NOL9) c.-91G>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 6615625 . G . . NT END=6630968;NT GT ./. 1 6615690 rs925745 A G 145 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.2754,G/0.7246,T/.;Gene=TAS1R1/NM_138697.3/1;CC=c.191+66A>G;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.191+66A>G;VC=Intron;DM=TAS1R1/ANF_receptor;DM=TAS1R1/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G:38:2:0:0:38:1273:145.42:5.47:139.96:1.00:1.00:1.00:60:68.1:0:0:104:46:21:NM_138697.3(TAS1R1) c.191+66A>G,NM_138697.3(TAS1R1) c.191+66A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 6615695 rs925744 C T 139 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.2616,T/0.7384;PC=0.001;Gene=TAS1R1/NM_138697.3/1;CC=c.191+71C>T;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.191+71C>T;VC=Intron;DM=TAS1R1/ANF_receptor;DM=TAS1R1/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:2:0:0:38:1209:139.00:5.62:133.38:1.00:1.00:1.00:60:67.1:0:0:109:41:21:NM_138697.3(TAS1R1) c.191+71C>T,NM_138697.3(TAS1R1) c.191+71C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 1 6631276 . G . . NT END=6634690;NT GT ./. 1 6631319 rs11122096 G A 255 nt VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.1114,A/0.8886;PC=0.025;Gene=TAS1R1/NM_138697.3/1;CC=c.498+44G>A;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.498+44G>A;VC=Intron;DM=TAS1R1/ANF_receptor;DM=TAS1R1/ANF_receptor;DM=TAS1R1/NCD3G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:71:19:0:0:70,1:2226,10:255.50,0.13:43.21,0.00:212.29,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,46.0:0,0:0,0:102,57:48,93:32,0:NM_138697.3(TAS1R1) c.498+44G>A,NM_138697.3(TAS1R1) c.498+44G>A:0.91,0.91:0.900354,0.900354 1 6631352 rs34514006 TC T 151 rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=TC/0.1028,T/0.8972;NP=2953;Gene=TAS1R1/NM_138697.3/1;CC=c.498+84delC;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.498+84delC;VC=Intron;DM=TAS1R1/ANF_receptor;DM=TAS1R1/ANF_receptor;DM=TAS1R1/NCD3G;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:TC,T:48:8:0:43:5,43:153,1379:0.00,151.44:0.00,17.03:0.00,134.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.8,47.2:0,0:0,0:143,86:7,65:1,28:-,NM_138697.3(TAS1R1) c.498+78delC:-,NOT_FOUND:-,NOT_FOUND 1 6631431 rs11587438 C T 102 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.2586,T/0.7414;Gene=TAS1R1/NM_138697.3/1;CC=c.498+156C>T;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.498+156C>T;VC=Intron;DM=TAS1R1/ANF_receptor;DM=TAS1R1/ANF_receptor;DM=TAS1R1/NCD3G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:0:0:0:27:891:101.98:0.00:101.98:1.00:0.00:1.00:60:54.3:0:0:113:38:27:NM_138697.3(TAS1R1) c.498+156C>T,NM_138697.3(TAS1R1) c.498+156C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 6635231 rs10864628 A G 694 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=189;DB;DBA=NA;PAF=A/0.07668,G/0.9233;Gene=TAS1R1/NM_138697.3/1;CC=c.1039A>G;ProtCh=p.K347E;VC=Missense;Gene=TAS1R1/NM_177540.2/0;CC=c.499-1244A>G;VC=Intron;DM=TAS1R1/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:189:116:0:0:1,1,187:10,10,6068:0.00,0.05,693.53:0.00,0.05,290.10:0.00,-0.00,403.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:123.0,60.0,41.2:0,0,0:0,0,0:124,80,69:27,71,80:0,0,33:NM_138697.3(TAS1R1) c.1039A>G (p.Lys347Glu),NM_138697.3(TAS1R1) c.1039A>G (p.Lys347Glu):0.94,0.94:0.919729,0.919729 1 6635453 . G . . NT END=6636474;NT GT ./. 1 6635756 rs11808319 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=29;PC=0.028;Gene=TAS1R1/NM_138697.3/1;CC=c.1260+304C>T;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.499-719C>T;VC=Intron;DM=TAS1R1/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:2:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:50.8:0:0:140:8:7:NM_138697.3(TAS1R1) c.1260+304C>T,NM_138697.3(TAS1R1) c.1260+304C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6636461 rs17492553 C T 255 nt VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.6302,T/0.3698;Gene=TAS1R1/NM_138697.3/1;CC=c.1261-14C>T;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.499-14C>T;VC=Intron;DM=TAS1R1/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:62:0:0:70:2217:254.88:165.81:89.07:1.00:1.00:1.00:60:40.0:0:0:44:103:26:NM_138697.3(TAS1R1) c.1261-14C>T,NM_138697.3(TAS1R1) c.1261-14C>T:0.42,0.42:0.440181,0.440181 1 6636688 . G . . NT END=6637009;NT GT ./. 1 6637131 . G . . NT END=6638712;NT GT ./. 1 6637313 rs4908931 A G 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.01617,G/0.9838;PC=0.015;Gene=TAS1R1/NM_138697.3/1;CC=c.1594+183A>G;VC=Intron;Gene=TAS1R1/NM_177540.2/0;CC=c.832+183A>G;VC=Intron;DM=TAS1R1/NCD3G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:402:45.92:0.00:45.92:1.00:0.00:1.00:60:37.4:0:0:112:38:22:NM_138697.3(TAS1R1) c.1594+183A>G,NM_138697.3(TAS1R1) c.1594+183A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 6639645 . C . . NT END=6640669;NT GT ./. 1 6639847 rs4908932 G T 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8906,T/0.1094;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:15:0:0:0:9,6:274,200:0.00,18.48:0.00,0.00:0.00,18.48:0.00,0.96:0.00,0.00:0.00,0.96:60,60:5.2,34.8:0,0:0,0:101,98:50,53:25,30:-,NM_005341.2(ZBTB48) c.-203-u216G>T:-,0.13:-,NOT_FOUND 1 6641360 . G . . NT END=6642117;NT GT ./. 1 6642360 . G . . NT END=6645978;NT GT ./. 1 6646091 . G . . NT END=6646654;NT GT ./. 1 6646749 . T . . NT END=6646754;NT GT ./. 1 6646848 . G . . NT END=6647264;NT GT ./. 1 6647352 . G . . NT END=6647537;NT GT ./. 1 6647693 . G . . NT END=6648119;NT GT ./. 1 6648257 . G . . NT END=6648337;NT GT ./. 1 6648503 . G . . NT END=6648815;NT GT ./. 1 6648905 . G . . NT END=6648975;NT GT ./. 1 6649273 . C . . NT END=6653453;NT GT ./. 1 6653719 . C . . NT END=6653725;NT GT ./. 1 6654171 . C . . NT END=6655544;NT GT ./. 1 6655618 . C . . NT END=6659106;NT GT ./. 1 6659513 . C . . NT END=6661856;NT GT ./. 1 6662907 . G . . NT END=6674126;NT GT ./. 1 6674166 . G . . NT END=6676816;NT GT ./. 1 6676919 . G . . NT END=6679862;NT GT ./. 1 6680398 . G . . NT END=6681470;NT GT ./. 1 6681698 . C . . NT END=6685278;NT GT ./. 1 6685353 . G . . NT END=6688558;NT GT ./. 1 6688752 . G . . NT END=6690347;NT GT ./. 1 6690414 . G . . NT END=6692429;NT GT ./. 1 6692106 . CA C,CAA 9 idl,nt VT=INS;SST=Single;DP=5;PC=0.178 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:17:CA,CAA,C:5:5:3:1:1,3,1:12,90,30:0.00,9.38,2.68:0.00,7.60,2.68:0.00,1.78,0.00:0.00,0.78,0.00:0.00,0.78,0.00:0.00,0.73,0.00:60,60,60:78.0,34.0,45.0:0,0,0:0,0,0:90,83,53:60,67,98:0,8,0:NM_001195753.1(THAP3) c.334-344delA,NM_001195753.1(THAP3) c.334-344dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6692556 . G . . NT END=6692855;NT GT ./. 1 6693102 rs56014220 C T 223 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=170;DB;DBA=NA;PAF=C/0.9936,T/0.00639;Gene=THAP3/NM_001195753.1/1;CC=c.685C>T;ProtCh=p.L229F;VC=Missense;Gene=THAP3/NM_001195752.1/0;CC=c.682C>T;ProtCh=p.L228F;VC=Missense;Gene=THAP3/NM_138350.3/0;CC=c.459+547C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:170:117:0:0:95,75:3187,2379:0.00,222.99:0.00,128.56:0.00,94.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,34.7:0,0:0,0:82,61:64,88:34,32:-,NM_001195753.1(THAP3) c.685C>T (p.Leu229Phe):-,0.01:-,0.018842 1 6693643 . T . . NT END=6694079;NT GT ./. 1 6694149 . A . . NT END=6695734;NT GT ./. 1 6695761 . C . . NT END=6696176;NT GT ./. 1 6696307 . C . . NT END=6697257;NT GT ./. 1 6697401 . C . . NT END=6697506;NT GT ./. 1 6697565 . C . . NT END=6698354;NT GT ./. 1 6698425 . C . . NT END=6699961;NT GT ./. 1 6700118 . C . . NT END=6704617;NT GT ./. 1 6700123 . G A 14 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=115;Gene=DNAJC11/NM_018198.3/1;CC=c.1098-6C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:32:A,C,G,T,D:115:74:0:1:16,1,96,1,1:255,8,2909,16,33:13.68,-0.32,0.00,-0.07,1.36:-4.12,-0.19,0.00,-0.25,0.62:17.80,-0.13,0.00,0.18,0.74:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,51,60:108.4,43.0,30.2,213.0,0.0:1,0,1,0,0:0,0,0,0,0:76,144,72,114,31:73,5,59,20,92:35,0,37,0,0:NM_018198.3(DNAJC11) c.1098-6C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 6700131 . CA C 40 idl,rn VT=DEL;SST=Single;DP=100;PC=0.051;Gene=DNAJC11/NM_018198.3/1;CC=c.1098-15delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:97:62:7:29:14,60,7,16:257,1740,212,592:16.84,0.00,14.60,39.89:-2.56,0.00,12.50,23.73:19.39,0.00,2.09,16.16:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:94.1,33.5,84.3,38.1:1,1,0,3:0,0,0,0:53,90,71,76:93,50,80,62:21,39,42,30:-,NM_018198.3(DNAJC11) c.1098-15delT:-,NOT_FOUND:-,NOT_FOUND 1 6704635 rs200458 A G 115 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.1669,G/0.8331;PC=0.005;Gene=DNAJC11/NM_018198.3/1;CC=c.1080T>C;ProtCh=p.G360=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:86:71:0:0:45,41:1441,1215:0.00,115.03:0.00,66.96:0.00,48.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,37.5:0,0:0,0:63,61:87,76:33,28:-,NM_018198.3(DNAJC11) c.1080T>C (p.(=)):-,0.82:-,0.899969 1 6704735 . C . . NT END=6705100;NT GT ./. 1 6705187 . C . . NT END=6705848;NT GT ./. 1 6705356 rs200457 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8375,G/0.1625;Gene=DNAJC11/NM_018198.3/1;CC=c.895-170T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,G:9:0:0:0:5,4:146,136:0.00,12.82:0.00,0.00:0.00,12.82:0.00,0.85:0.00,0.00:0.00,0.85:60,60:7.8,34.0:0,0:0,0:40,44:111,107:12,36:-,NM_018198.3(DNAJC11) c.895-170T>C:-,0.19:-,NOT_FOUND 1 6705874 rs200454 G C 166 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.8389,C/0.1611;PC=1.000;Gene=DNAJC11/NM_018198.3/1;CC=c.869C>G;ProtCh=p.T290S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:118:95:0:0:53,65:1761,2100:166.12,0.00:110.75,0.00:55.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,10.6:0,0:0,0:76,51:74,88:38,30:NM_018198.3(DNAJC11) c.869C>G (p.Thr290Ser),-:0.19,-:0.211979,- 1 6706039 . C . . NT END=6711588;NT GT ./. 1 6711663 . C . . NT END=6712888;NT GT ./. 1 6713012 . C . . NT END=6713970;NT GT ./. 1 6714100 . C . . NT END=6727768;NT GT ./. 1 6727871 . C . . NT END=6738453;NT GT ./. 1 6738528 . C . . NT END=6740967;NT GT ./. 1 6741098 . C . . NT END=6761788;NT GT ./. 1 6761861 . C . . NT END=6845590;NT GT ./. 1 6775612 rs546052920 T C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=92 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:3:0:0:3,1:99,35:10.35,0.00:5.18,0.00:5.18,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,39:96.7,32.0:0,0:0,0:117,33:34,28:19,0:chr1 g.6775611T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 6775622 rs531570245 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:3:0:0:1,3:36,87:0.00,9.15:0.00,3.82:0.00,5.33:0.00,0.85:0.00,0.99:0.00,0.99:39,40:32.0,121.3:0,0:0,0:43,112:18,39:0,7:-,chr1 g.6775621C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 6775629 rs549688321 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:4:2:0:0:2,2:43,68:0.00,6.57:0.00,-0.44:0.00,7.00:0.00,0.51:0.00,0.79:0.00,0.89:40,40:62.5,135.5:0,0:0,0:81,126:22,24:31,7:-,chr1 g.6775628C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 6793240 rs441515 G C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5925,C/0.4075 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:171:19.48:15.81:3.68:1.00:1.00:1.00:60:37.6:0:0:61:90:31:chr1 g.6793239G>C (intergenic),chr1 g.6793239G>C (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 1 6793250 rs71568664 T TCA 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=226;NP=3;NP=6;PC=0.007;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:T,TCA:4:4:3:0:2,2:66,101:0.00,6.41:0.00,6.41:0.00,0.00:0.00,0.46:0.00,0.87:0.00,0.60:60,60:35.0,59.0:0,1:0,0:117,61:26,89:12,10:-,chr1 g.6793250_6793251insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 6799184 rs141737354 GCA G 13 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GCA/0.1871,G/0.8129;NP=192;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:4:4:115:13.40:7.05:6.35:1.00:1.00:1.00:60:40.5:0:0:81:47:16:chr1 g.6799185_6799186delCA (intergenic),chr1 g.6799185_6799186delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 6799212 rs148705851 ACG A 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ACG/0.6859,A/0.3141;NP=82;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:ACG,A:4:2:0:3:1,3:35,86:0.00,9.05:0.00,3.25:0.00,5.80:0.00,0.85:0.00,0.95:0.00,0.99:60,60:66.0,32.0:0,0:0,0:131,99:20,22:0,16:-,chr1 g.6799213_6799214delCG (intergenic):-,0.54:-,NOT_FOUND 1 6845636 . G . . NT END=6880240;NT GT ./. 1 6880311 . G . . NT END=6885151;NT GT ./. 1 6885271 . G . . NT END=6931816;NT GT ./. 1 6931643 rs55944233 T TA 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8884,TA/0.1116;DB;DBA=NA;PAF=T/0.8884,TA/0.1116;NP=22;PC=0.002;Gene=CAMTA1/NM_001195563.1/0;CC=c.235-165dupA;VC=Intron;Gene=CAMTA1/NM_001242701.1/0;CC=c.235-16062dupA;VC=Intron;Gene=CAMTA1/NR_038934.1/0;VC=NonCoding;Gene=CAMTA1/NM_015215.3/1;CC=c.234+46382dupA;VC=Intron;DM=CAMTA1/CG-1;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:T,TA:8:8:3:0:5,3:162,98:0.00,8.93:0.00,8.93:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:11.2,4.3:0,0:0,0:27,91:124,60:19,22:-,NM_015215.2(CAMTA1) c.234+46373_234+46374insA:-,0.14:-,NOT_FOUND 1 6932110 . T . . NT END=6947713;NT GT ./. 1 6932293 rs59519138 TCAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=106;PC=0.003;Gene=CAMTA1/NM_001242701.1/0;CC=c.235-15393_235-15391delCAC;VC=Intron;Gene=CAMTA1/NR_038934.1/0;VC=NonCoding;Gene=CAMTA1/NM_015215.3/1;CC=c.234+47051_234+47053delCAC;VC=Intron;DM=CAMTA1/CG-1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:TCAC,I,T:4:1:1:2:1,1,2:32,25,63:0.00,2.25,6.35:0.00,0.00,1.74:0.00,2.25,4.61:0.00,0.00,0.51:0.00,0.00,0.67:0.00,0.00,0.51:60,60,60:0.0,43.0,34.0:0,0,0:0,0,0:141,61,25:8,88,126:0,0,2:-,NM_015215.2(CAMTA1) c.234+47024_234+47026delCAC:-,NOT_FOUND:-,NOT_FOUND 1 6947717 rs3810982 C T 189 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.7917,T/0.2083;PC=1.000;Gene=CAMTA1/NM_001242701.1/0;CC=c.238C>T;ProtCh=p.L80F;VC=Missense;Gene=CAMTA1/NR_038934.1/0;VC=NonCoding;Gene=CAMTA1/NM_015215.3/1;CC=c.234+62447C>T;VC=Intron;DM=CAMTA1/CG-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:116:89:0:0:55,61:1824,1951:0.00,189.34:0.00,122.54:0.00,66.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,36.4:0,0:0,0:51,65:99,74:28,45:-,NM_015215.2(CAMTA1) c.234+62447C>T:-,0.22:-,NOT_FOUND 1 6947973 rs3827726 C T 188 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.7851,T/0.2149;Gene=CAMTA1/NM_001242701.1/0;CC=c.*188C>T;VC=3UTR;Gene=CAMTA1/NR_038934.1/0;VC=NonCoding;Gene=CAMTA1/NM_015215.3/1;CC=c.234+62703C>T;VC=Intron;DM=CAMTA1/CG-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:117:79:0:0:55,62:1770,1936:0.00,187.96:0.00,93.50:0.00,94.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,41.9:0,0:0,0:55,51:96,96:35,32:-,NM_015215.2(CAMTA1) c.234+62703C>T:-,0.23:-,NOT_FOUND 1 6948204 rs8918 T C 168 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.3676,C/0.6324;Gene=CAMTA1/NM_001242701.1/0;CC=c.*419T>C;VC=3UTR;Gene=CAMTA1/NR_038934.1/0;VC=NonCoding;Gene=CAMTA1/NM_015215.3/1;CC=c.234+62934T>C;VC=Intron;DM=CAMTA1/CG-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:C,G:48:17:0:0:47,1:1462,10:168.09,0.19:53.90,0.19:114.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,78.0:0,0:0,0:87,69:64,53:38,0:NM_015215.2(CAMTA1) c.234+62934T>C,NM_015215.2(CAMTA1) c.234+62934T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 1 6948262 . t . . NT END=7151363;NT GT ./. 1 6959598 . A ACG 11 nt VT=INS;SST=Single;DP=9;NP=1;NP=2;PC=0.007;Gene=CAMTA1/NM_015215.3/1;CC=c.234+74333_234+74334insGC;VC=Intron;DM=CAMTA1/CG-1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,ACG:9:7:4:0:5,4:143,121:0.00,11.33:0.00,7.00:0.00,4.33:0.00,0.85:0.00,0.97:0.00,0.94:60,60:17.4,60.0:0,0:0,0:132,41:18,109:14,20:-,NM_015215.2(CAMTA1) c.234+74328_234+74329insCG:-,NOT_FOUND:-,NOT_FOUND 1 6959604 rs72638533 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7073,G/0.2927;NP=1;NP=138;NP=4;PC=0.019;Gene=CAMTA1/NM_015215.3/1;CC=c.234+74334A>G;VC=Intron;DM=CAMTA1/CG-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:7:5:0:0:3,4:74,135:0.00,13.35:0.00,6.47:0.00,6.88:0.00,0.90:0.00,0.98:0.00,0.98:60,60:8.7,63.5:0,0:0,0:138,41:12,110:4,20:-,NM_015215.2(CAMTA1) c.234+74334A>G:-,NOT_FOUND:-,NOT_FOUND 1 6962099 rs536174579 T TCA 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=16;Gene=CAMTA1/NM_015215.3/1;CC=c.234+76863_234+76864insCA;VC=Intron;DM=CAMTA1/CG-1;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:T,TCA:8:6:3:0:5,3:139,92:0.00,8.35:0.00,4.27:0.00,4.09:0.00,0.67:0.00,0.93:0.00,0.93:70,60:20.2,64.3:0,0:0,0:51,44:85,74:11,38:-,NM_015215.2(CAMTA1) c.234+76829_234+76830insCA:-,NOT_FOUND:-,NOT_FOUND 1 6962132 rs3986505 C CACAAAA 8 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=25;NP=7;Gene=CAMTA1/NM_015215.3/1;CC=c.234+76863_234+76864insCAAAAA;VC=Intron;DM=CAMTA1/CG-1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,CACAAAA:8:7:4:0:5,3:169,122:0.00,8.02:0.00,2.83:0.00,5.18:0.00,0.64:0.00,0.92:0.00,0.86:60,70:57.4,20.3:0,1:0,0:41,83:110,59:18,5:-,NM_015215.2(CAMTA1) c.234+76862_234+76863insACAAAA:-,NOT_FOUND:-,NOT_FOUND 1 6962134 rs12026178 A C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=80;Gene=CAMTA1/NM_015215.3/1;CC=c.234+76864A>C;VC=Intron;DM=CAMTA1/CG-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,C:8:6:0:0:3,5:100,171:0.00,17.19:0.00,12.17:0.00,5.02:0.00,0.97:0.00,1.00:0.00,0.98:70,60:20.3,57.4:0,0:0,0:91,43:59,108:1,18:-,NM_015215.2(CAMTA1) c.234+76864A>C:-,NOT_FOUND:-,NOT_FOUND 1 7151432 . G . . NT END=7309550;NT GT ./. 1 7192108 rs70984054 TAC T 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.4107,T/0.5893;DB;DBA=NA;PAF=TAC/0.4107,T/0.5893;DB;DBA=NA;PAF=TAC/0.4107,T/0.5893;DB;DBA=NA;PAF=TAC/0.4107,T/0.5893;NP=368;PC=0.002;Gene=CAMTA1/NM_015215.3/1;CC=c.302+40700_302+40701delAC;VC=Intron;DM=CAMTA1/CG-1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TAC,T:4:3:0:3:1,3:33,94:0.00,9.85:0.00,4.98:0.00,4.88:0.00,0.85:0.00,0.99:0.00,0.95:60,60:67.0,6.7:0,0:0,0:101,54:35,70:0,30:-,NM_015215.2(CAMTA1) c.302+40678_302+40679delAC:-,NOT_FOUND:-,NOT_FOUND 1 7291412 rs11811140 A T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=21;Gene=CAMTA1/NM_015215.3/1;CC=c.303-18139A>T;VC=Intron;DM=CAMTA1/CG-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,T:4:4:0:0:1,3:13,98:0.00,10.28:0.00,10.57:0.00,-0.29:0.00,0.85:0.00,0.85:0.00,0.83:15,60:43.0,73.0:0,0:0,0:73,55:44,91:0,13:-,NM_015215.2(CAMTA1) c.303-18139A>T:-,NOT_FOUND:-,NOT_FOUND 1 7309687 . G . . NT END=7527889;NT GT ./. 1 7330290 rs12037933 T C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014;Gene=CAMTA1/NM_015215.3/1;CC=c.438+20604T>C;VC=Intron;DM=CAMTA1/CG-1;DM=CAMTA1/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,T:4:2:0:0:2,2:67,59:6.45,0.00:7.05,0.00:-0.60,0.00:0.51,0.00:0.79,0.00:0.79,0.00:60,60:161.5,119.0:0,2:0,0:99,108:43,43:43,1:NM_015215.2(CAMTA1) c.438+20604T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 7454942 rs72642832 C CT 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=421;NP=5;PC=0.001;Gene=CAMTA1/NM_015215.3/1;CC=c.439-72938_439-72937insT;VC=Intron;DM=CAMTA1/CG-1;DM=CAMTA1/IQ;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CT:4:3:2:0:2,2:68,66:0.00,6.35:0.00,5.06:0.00,1.29:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,15.0:0,0:0,0:76,78:74,52:50,13:-,NM_015215.2(CAMTA1) c.439-72948_439-72947insT:-,NOT_FOUND:-,NOT_FOUND 1 7470957 rs35763888 CTGTG C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=249;Gene=CAMTA1/NM_015215.3/1;CC=c.439-56909_439-56906delGTGT;VC=Intron;DM=CAMTA1/CG-1;DM=CAMTA1/IQ;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:CTGTG,C:4:4:0:3:1,3:12,95:0.00,9.98:0.00,8.21:0.00,1.78:0.00,0.85:0.00,0.85:0.00,0.83:60,60:58.0,35.3:0,0:0,0:56,54:95,97:0,39:-,NM_015215.2(CAMTA1) c.439-56932_439-56929delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 7527962 . G . . NT END=7700459;NT GT ./. 1 7527996 rs1201529 T C 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.5359,C/0.4641;PC=0.010;Gene=CAMTA1/NM_015215.3/1;CC=c.510+35T>C;VC=Intron;DM=CAMTA1/CG-1;DM=CAMTA1/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:19:0:0:17,16:513,520:49.44,0.00:19.44,0.00:30.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,7.2:0,0:0,0:116,111:35,34:15,15:NM_015215.2(CAMTA1) c.510+35T>C,-:0.49,-:0.606566,- 1 7700614 . G . . NT END=7721785;NT GT ./. 1 7721927 . G . . NT END=7723412;NT GT ./. 1 7723957 rs12128526 G A 250 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=147;DB;DBA=in-clinvar;PAF=G/0.5998,A/0.4002;PC=0.985;Gene=CAMTA1/NM_015215.3/1;CC=c.1350G>A;ProtCh=p.S450=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:147:94:0:0:81,66:2552,2032:249.81,0.00:121.99,0.00:127.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,5.3:0,0:0,0:72,82:76,63:29,37:NM_015215.2(CAMTA1) c.1350G>A (p.(=)),-:0.4,-:0.429955,- 1 7725260 . G . . NT END=7730970;NT GT ./. 1 7725284 rs4908671 C A 119 nt VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.7718,A/0.2282;PC=0.072;Gene=CAMTA1/NM_015215.3/1;CC=c.2652+25C>A;VC=Intron;DM=CAMTA1/TIG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:87:36:0:0:40,47:1258,1478:118.79,0.00:33.41,0.00:85.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,13.9:0,0:0,0:107,97:25,48:30,36:NM_015215.2(CAMTA1) c.2652+25C>A,-:0.23,-:0.290756,- 1 7725414 rs4908672 C T 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7486,T/0.2514;Gene=CAMTA1/NM_015215.3/1;CC=c.2652+155C>T;VC=Intron;DM=CAMTA1/TIG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:0:0:0:13,9:394,298:0.00,27.63:0.00,0.00:0.00,27.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.4,39.2:0,0:0,0:81,120:70,31:25,6:-,NM_015215.2(CAMTA1) c.2652+155C>T:-,0.25:-,NOT_FOUND 1 7728391 rs1891216 T G 18 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7588,G/0.2412;Gene=CAMTA1/NM_015215.3/1;CC=c.2653-2580T>G;VC=Intron;DM=CAMTA1/TIG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:159:18.28:16.40:1.89:1.00:1.00:1.00:60:52.6:0:0:56:95:8:NM_015215.2(CAMTA1) c.2653-2580T>G,NM_015215.2(CAMTA1) c.2653-2580T>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 7728458 rs74803621 C A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=CAMTA1/NM_015215.3/1;CC=c.2653-2513C>A;VC=Intron;DM=CAMTA1/TIG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,C:12:8:0:0:3,9:91,266:7.61,0.00:6.65,0.00:0.96,0.00:0.59,0.00:0.87,0.00:0.87,0.00:60,60:66.0,31.7:0,0:0,0:122,27:29,113:7,10:NM_015215.2(CAMTA1) c.2653-2513C>A,-:0.28,-:NOT_FOUND,- 1 7728493 rs61772085 C A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6765,A/0.3235;PC=0.051;Gene=CAMTA1/NM_015215.3/1;CC=c.2653-2478C>A;VC=Intron;DM=CAMTA1/TIG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,C:8:4:0:1:4,4:120,105:11.52,0.00:1.11,0.00:10.41,0.00:0.87,0.00:0.51,0.00:0.73,0.00:60,60:53.2,28.5:0,0:0,0:55,74:81,64:6,13:NM_015215.2(CAMTA1) c.2653-2478C>A,-:0.39,-:NOT_FOUND,- 1 7731098 . G . . NT END=7737658;NT GT ./. 1 7737794 . G . . NT END=7792507;NT GT ./. 1 7737799 rs3011926 A G 99 nt VT=SNV;PN=G;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.4083,G/0.5917;PC=0.158;Gene=CAMTA1/NM_015215.3/1;CC=c.2914+6A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:37:0:0:40,32:1284,1056:0.00,99.39:0.00,33.62:0.00,65.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,38.9:0,0:0,0:95,85:49,58:22,21:-,NM_015215.2(CAMTA1) c.2914+6A>G:-,0.59:-,0.556282 1 7792411 rs2301488 C T 73 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5445,T/0.4555;Gene=CAMTA1/NM_015215.3/1;CC=c.2915-97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:20:0:0:21:628:72.68:68.80:3.88:1.00:1.00:1.00:60:33.4:0:0:35:116:29:NM_015215.2(CAMTA1) c.2915-97C>T,NM_015215.2(CAMTA1) c.2915-97C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 7792660 . G . . NT END=7796403;NT GT ./. 1 7796601 . G . . NT END=7796990;NT GT ./. 1 7796641 rs2071985 A G 181 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.4732,G/0.5268;Gene=CAMTA1/NM_015215.3/1;CC=c.3263+41A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:G:50:13:0:0:50:1570:180.76:30.35:150.41:1.00:1.00:1.00:60:47.2:0:0:106:45:27:NM_015215.2(CAMTA1) c.3263+41A>G,NM_015215.2(CAMTA1) c.3263+41A>G:0.54,0.54:0.504844,0.504844 1 7797070 . G . . NT END=7797314;NT GT ./. 1 7797503 rs41278952 C G 297 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=181;DB;DBA=in-clinvar;PAF=C/0.8996,G/0.1004;PC=0.575;Gene=CAMTA1/NM_015215.3/1;CC=c.3531C>G;ProtCh=p.N1177K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:181:135:0:0:1,90,90:9,2904,3083:-0.19,0.00,297.04:-0.13,0.00,170.91:-0.06,0.00,126.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:197.0,3.8,38.6:0,0,0:0,0,0:39,69,69:104,81,81:0,38,40:-,NM_015215.2(CAMTA1) c.3531C>G (p.Asn1177Lys):-,0.09:-,0.099569 1 7797631 . G . . NT END=7798018;NT GT ./. 1 7797734 rs1417986 T A 169 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.4008,A/0.5992;Gene=CAMTA1/NM_015215.3/1;CC=c.3658+104T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A:49:4:0:0:49:1460:169.15:14.91:154.24:1.00:1.00:1.00:60:51.2:0:0:99:52:42:NM_015215.2(CAMTA1) c.3658+104T>A,NM_015215.2(CAMTA1) c.3658+104T>A:0.61,0.61:NOT_FOUND,NOT_FOUND 1 7798543 . G . . NT END=7804894;NT GT ./. 1 7798793 rs2239847 T C 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4786,C/0.5214;Gene=CAMTA1/NM_015215.3/1;CC=c.4182+251T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:178:20.63:0.00:20.63:1.00:0.00:1.00:60:29.7:0:0:103:46:23:NM_015215.2(CAMTA1) c.4182+251T>C,NM_015215.2(CAMTA1) c.4182+251T>C:0.53,0.53:NOT_FOUND,NOT_FOUND 1 7805083 . G . . NT END=7805904;NT GT ./. 1 7805208 rs2071986 G T 81 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3976,T/0.6024;Gene=CAMTA1/NM_015215.3/1;CC=c.4370+126G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:0:0:0:23:701:81.01:0.00:81.01:1.00:0.00:1.00:60:38.1:0:0:80:71:37:NM_015215.2(CAMTA1) c.4370+126G>T,NM_015215.2(CAMTA1) c.4370+126G>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 7805403 rs61772143 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8728,G/0.1272;PC=0.005;Gene=CAMTA1/NM_015215.3/1;CC=c.4370+321A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,G:6:0:0:0:3,3:84,100:0.00,9.63:0.00,0.00:0.00,9.63:0.00,0.73:0.00,0.00:0.00,0.73:60,60:41.3,33.3:0,0:0,0:92,113:59,38:25,18:-,NM_015215.2(CAMTA1) c.4370+321A>G:-,0.14:-,NOT_FOUND 1 7806152 . G . . NT END=7807769;NT GT ./. 1 7807842 . G . . NT END=7811258;NT GT ./. 1 7807897 rs12133253 A G 115 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.3942,G/0.6058;PC=0.001;Gene=CAMTA1/NM_015215.3/1;CC=c.4689+56A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:13:0:0:31:1004:115.16:35.19:79.97:1.00:1.00:1.00:60:36.2:0:0:107:43:21:NM_015215.2(CAMTA1) c.4689+56A>G,NM_015215.2(CAMTA1) c.4689+56A>G:0.63,0.63:0.686378,0.686378 1 7807966 rs34083763 GT G 20 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=431;PC=0.568;Gene=CAMTA1/NM_015215.3/1;CC=c.4689+138delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:15:1:0:7:8,7:236,216:0.00,20.44:0.00,1.72:0.00,18.72:0.00,0.99:0.00,0.64:0.00,0.99:60,60:38.5,40.3:0,0:0,0:129,86:21,65:18,36:-,NM_015215.2(CAMTA1) c.4689+126delT:-,NOT_FOUND:-,NOT_FOUND 1 7808075 rs12755390 C T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8728,T/0.1272;PC=0.200;Gene=CAMTA1/NM_015215.3/1;CC=c.4689+234C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:0:0:0:3,2:92,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:60,60:0.0,41.0:0,0:0,0:124,110:26,40:18,6:-,NM_015215.2(CAMTA1) c.4689+234C>T:-,0.14:-,NOT_FOUND 1 7811215 rs10779689 A G 167 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.384,G/0.616;Gene=CAMTA1/NM_015215.3/1;CC=c.4690-44A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:45:0:0:48:1442:167.04:129.32:37.72:1.00:1.00:1.00:60:46.7:0:0:31:109:20:NM_015215.2(CAMTA1) c.4690-44A>G,NM_015215.2(CAMTA1) c.4690-44A>G:0.64,0.64:0.682685,0.682685 1 7811453 . G . . NT END=7812518;NT GT ./. 1 7812398 rs9919223 A G 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.3714,G/0.6286;Gene=CAMTA1/NM_015215.3/1;CC=c.4884-121A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:20:0:0:20:603:69.82:69.82:0.00:1.00:1.00:0.00:60:31.7:0:0:50:100:36:NM_015215.2(CAMTA1) c.4884-121A>G,NM_015215.2(CAMTA1) c.4884-121A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 7812594 . G . . NT END=7815697;NT GT ./. 1 7815729 . G . . NT END=7826518;NT GT ./. 1 7826313 rs5772289 A AT 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2143,AT/0.7798;DB;DBA=NA;PAF=A/0.2143,AT/0.7798,ATT/0.00599;NP=788;Gene=CAMTA1/NM_015215.3/1;CC=c.4990-197dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,AT:8:8:3:0:5,3:150,88:0.00,7.93:0.00,7.93:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:28.6,18.3:0,0:0,0:33,129:118,21:28,1:-,NM_015215.2(CAMTA1) c.4990-206_4990-205insT:-,NOT_FOUND:-,NOT_FOUND 1 7826347 rs697672 C T 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.09185,T/0.9081;Gene=CAMTA1/NM_015215.3/1;CC=c.4990-172C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:252:29.01:29.01:0.00:1.00:1.00:0.00:60:44.1:0:0:51:98:23:NM_015215.2(CAMTA1) c.4990-172C>T,NM_015215.2(CAMTA1) c.4990-172C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 1 7826552 . A . . NT END=7831443;NT GT ./. 1 7831313 rs544911502 T C 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.9611,C/0.03894;NP=36 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:17:0:0:10,18:328,476:29.68,0.00:7.22,0.00:22.46,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:43.8,20.3:0,0:0,0:24,33:123,115:8,19:NM_004781.3(VAMP3) c.-115-u16T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 7831446 . G . . NT END=7833501;NT GT ./. 1 7833485 rs11576572 G A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8474,A/0.1526;Gene=VAMP3/NM_004781.3/1;CC=c.3-17G>A;VC=Intron;DM=VAMP3/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:32:25:0:0:11,20,1:354,704,10:31.89,0.00,-0.02:21.76,0.00,-0.17:10.12,0.00,0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.1,3.1,82.0:0,0,0:0,0,0:68,28,39:80,116,88:32,19,0:NM_004781.3(VAMP3) c.3-17G>A,-:0.15,-:0.205136,- 1 7833572 . G . . NT END=7837219;NT GT ./. 1 7836942 rs2797688 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4631,C/0.5369;PC=0.001;Gene=VAMP3/NM_004781.3/1;CC=c.73-278T>C;VC=Intron;DM=VAMP3/Synaptobrevin;DM=VAMP3/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:56.9:0:0:32:118:12:NM_004781.3(VAMP3) c.73-278T>C,NM_004781.3(VAMP3) c.73-278T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 7837379 . G . . NT END=7838177;NT GT ./. 1 7838230 . G . . NT END=7839685;NT GT ./. 1 7839405 rs697677 G T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4643,T/0.5357;Gene=VAMP3/NM_004781.3/1;CC=c.284-281G>T;VC=Intron;DM=VAMP3/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:G,T:7:7:0:0:1,6:25,178:0.00,19.40:0.00,19.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:165.0,33.5:0,0:0,0:25,65:124,86:0,53:-,NM_004781.3(VAMP3) c.284-281G>T:-,0.54:-,NOT_FOUND 1 7839706 . A . . NT END=7844937;NT GT ./. 1 7845066 . G . . NT END=7845500;NT GT ./. 1 7845647 . G . . NT END=7846780;NT GT ./. 1 7845695 rs228729 T C 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.2756,C/0.7244;Gene=PER3/NM_001289861.1/1;CC=c.274+49T>C;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.274+49T>C;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.274+49T>C;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-745+49T>C;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.274+49T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:22:0:0:21,27:708,854:66.53,0.00:24.97,0.00:41.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,10.5:0,0:0,0:99,111:46,38:29,29:NM_016831.1(PER3) c.274+49T>C,-:0.72,-:0.689605,- 1 7846897 . G . . NT END=7847257;NT GT ./. 1 7847307 . G . . NT END=7848104;NT GT ./. 1 7847362 rs397686871 C CT 36 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.03574,CT/0.9643;DB;DBA=NA;PAF=C/0.03574,CT/0.9643;NP=153;PC=0.001;Gene=PER3/NM_001289861.1/1;CC=c.390+472dupT;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.390+472dupT;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.390+472dupT;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-629+472dupT;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.390+472dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,CT:12:4:11:0:1,11:33,327:0.00,36.43:0.00,7.33:0.00,29.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,16.0:0,0:0,0:143,100:5,51:0,15:-,NM_016831.1(PER3) c.390+466_390+467insT:-,0.96:-,NOT_FOUND 1 7848307 . G . . NT END=7854016;NT GT ./. 1 7848557 rs11121023 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8105,A/0.1895;Gene=PER3/NM_001289861.1/1;CC=c.592+251G>A;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.592+251G>A;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.592+251G>A;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-427+251G>A;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.592+251G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:6:0:0:0:4,2:102,69:10.40,0.00:0.00,0.00:10.40,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:76.2,7.0:0,0:0,0:120,44:27,107:18,18:NM_016831.1(PER3) c.592+251G>A,-:0.18,-:NOT_FOUND,- 1 7854069 . G . . NT END=7858584;NT GT ./. 1 7854209 rs11807683 C T 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.9006,T/0.09944;PC=0.001;Gene=PER3/NM_001289861.1/1;CC=c.644+141C>T;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.644+141C>T;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.644+141C>T;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-378+141C>T;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.641+141C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:C,T:18:0:0:0:6,12:188,402:0.00,40.95:0.00,0.00:0.00,40.95:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.8,34.7:0,0:0,0:129,120:22,31:12,19:-,NM_016831.1(PER3) c.641+141C>T:-,0.1:-,NOT_FOUND 1 7858734 . G . . NT END=7861172;NT GT ./. 1 7858925 rs228686 T C 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.02376,C/0.9762;Gene=PER3/NM_001289861.1/1;CC=c.793+192T>C;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.793+192T>C;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.793+192T>C;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-165+192T>C;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.790+192T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:1:0:0:8:213:25.05:2.04:23.01:1.00:1.00:1.00:60:42.6:0:0:106:45:22:NM_016831.1(PER3) c.790+192T>C,NM_016831.1(PER3) c.790+192T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 7861153 rs386366158 C CT 74 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5721,CT/0.4279;DB;DBA=NA;PAF=C/0.5721,CT/0.4279,CTT/.;NP=2595;Gene=PER3/NM_001289861.1/1;CC=c.794-17dupT;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.794-17dupT;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.794-17dupT;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-164-17dupT;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.791-17dupT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,CT:23:18:21:0:2,21:70,667:0.00,73.76:0.00,45.11:0.00,28.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,8.4:2,0:0,0:33,34:117,115:1,24:-,NM_016831.1(PER3) c.791-20_791-19insT:-,0.41:-,NOT_FOUND 1 7861252 . G . . NT END=7863106;NT GT ./. 1 7861345 rs488728 G A 35 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4744,A/0.5256;Gene=PER3/NM_001289861.1/1;CC=c.872+94G>A;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.872+94G>A;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.872+94G>A;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-86+94G>A;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.869+94G>A;VC=Intron;DM=PER3/PAS_3;DM=PER3/PAS_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:1:0:0:9:304:34.69:1.94:32.75:1.00:1.00:1.00:60:33.8:0:0:89:62:25:NM_016831.1(PER3) c.869+94G>A,NM_016831.1(PER3) c.869+94G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 7862899 rs228641 T C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.02376,C/0.9762;Gene=PER3/NM_001289861.1/1;CC=c.873-208T>C;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.873-208T>C;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.873-208T>C;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.-85-208T>C;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.870-208T>C;VC=Intron;DM=PER3/PAS_3;DM=PER3/PAS_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:137:16.05:16.05:0.00:1.00:1.00:0.00:60:30.4:0:0:46:105:45:NM_016831.1(PER3) c.870-208T>C,NM_016831.1(PER3) c.870-208T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 7863214 . G . . NT END=7863751;NT GT ./. 1 7863293 rs228642 C T 76 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.5837,T/0.4163;Gene=PER3/NM_001289861.1/1;CC=c.979+80C>T;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.979+80C>T;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.979+80C>T;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.22+80C>T;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.976+80C>T;VC=Intron;DM=PER3/PAS_3;DM=PER3/PAS_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:1:0:0:20:661:75.64:3.08:72.56:1.00:1.00:1.00:60:36.6:0:0:109:40:20:NM_016831.1(PER3) c.976+80C>T,NM_016831.1(PER3) c.976+80C>T:0.41,0.41:NOT_FOUND,NOT_FOUND 1 7863909 . G . . NT END=7868952;NT GT ./. 1 7868725 rs228666 T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6903,C/0.3097;Gene=PER3/NM_001289861.1/1;CC=c.1137-228T>C;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.1137-228T>C;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.1137-228T>C;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.180-228T>C;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.1134-228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:6:6:0:0:3,3:78,98:7.40,0.00:7.40,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:29.0,7.0:0,0:0,0:42,17:109,134:12,7:NM_016831.1(PER3) c.1134-228T>C,-:0.32,-:NOT_FOUND,- 1 7869059 . G . . NT END=7869952;NT GT ./. 1 7869915 rs228668 G C 230 nt VT=SNV;PN=A;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.02376,C/0.9762;Gene=PER3/NM_001289861.1/1;CC=c.1243-38G>C;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.1243-38G>C;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.1243-38G>C;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.286-38G>C;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.1240-38G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C:63:55:0:0:63:2002:230.07:172.97:57.10:1.00:1.00:1.00:60:47.2:0:0:51:96:25:NM_016831.1(PER3) c.1240-38G>C,NM_016831.1(PER3) c.1240-38G>C:0.97,0.97:0.961692,0.961692 1 7870048 rs228669 T C 390 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.121,C/0.879;PC=0.317;Gene=PER3/NM_001289861.1/1;CC=c.1338T>C;ProtCh=p.S446=;VC=Silent;Gene=PER3/NM_001289862.1/0;CC=c.1338T>C;ProtCh=p.S446=;VC=Silent;Gene=PER3/NM_001289863.1/0;CC=c.1338T>C;ProtCh=p.S446=;VC=Silent;Gene=PER3/NM_001289864.1/0;CC=c.381T>C;ProtCh=p.S127=;VC=Silent;Gene=PER3/NM_016831.2/0;CC=c.1335T>C;ProtCh=p.S445=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:109:66:0:0:1,107,1:13,3400,13:0.18,389.91,0.18:0.00,162.03,0.18:0.18,227.87,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:101.0,51.5,47.0:0,0,0:0,0,0:42,80,150:81,51,1:0,37,0:NM_016831.1(PER3) c.1335T>C (p.(=)),NM_016831.1(PER3) c.1335T>C (p.(=)):0.86,0.86:0.937414,0.937414 1 7870082 . G . . NT END=7870497;NT GT ./. 1 7870144 rs228670 A C 189 nt VT=SNV;PN=G;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.02376,C/0.9762;Gene=PER3/NM_001289861.1/1;CC=c.1371+63A>C;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.1371+63A>C;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.1371+63A>C;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.414+63A>C;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.1368+63A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:C:50:17:0:0:50:1654:189.17:38.43:150.74:1.00:1.00:1.00:60:60.0:0:0:117:32:19:NM_016831.1(PER3) c.1368+63A>C,NM_016831.1(PER3) c.1368+63A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 7870649 . G . . NT END=7879344;NT GT ./. 1 7879130 rs228688 T G 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4475,A/.,G/0.5525;PC=0.001;Gene=PER3/NM_001289861.1/1;CC=c.1523-215T>G;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.1523-215T>G;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.1502-215T>G;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.566-215T>G;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.1499-215T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:8:8:0:0:7,1:190,13:20.92,0.00:20.92,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.4,0.0:0,0:0,0:11,101:139,49:11,0:NM_016831.1(PER3) c.1499-215T>G,NM_016831.1(PER3) c.1499-215T>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 7879481 . G . . NT END=7880174;NT GT ./. 1 7879685 rs17374230 T C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.879,C/0.121;Gene=PER3/NM_001289861.1/1;CC=c.1658+205T>C;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.1658+205T>C;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.1637+205T>C;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.701+205T>C;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.1634+205T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:9:0:0:0:5,4:124,139:12.08,0.00:0.00,0.00:12.08,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:26.8,0.0:0,0:0,0:82,103:69,47:47,20:NM_016831.1(PER3) c.1634+205T>C,-:0.12,-:NOT_FOUND,- 1 7880300 . G . . NT END=7880526;NT GT ./. 1 7880469 rs228691 A G 205 nt VT=SNV;PN=T;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.4471,G/0.5529;Gene=PER3/NM_001289861.1/1;CC=c.1784-58A>G;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.1784-58A>G;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.1763-58A>G;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.827-58A>G;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.1760-58A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:A,G,T:58:41:0:0:1,56,1:9,1804,18:0.00,205.00,0.61:0.00,128.37,0.61:0.00,76.64,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:102.0,40.0,220.0:0,0,0:0,0,0:129,61,91:18,89,58:0,31,0:NM_016831.1(PER3) c.1760-58A>G,NM_016831.1(PER3) c.1760-58A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 7880683 rs10462020 T G 145 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.8794,G/0.1206;PC=0.260;Gene=PER3/NM_001289861.1/1;CC=c.1940T>G;ProtCh=p.V647G;VC=Missense;Gene=PER3/NM_001289862.1/0;CC=c.1940T>G;ProtCh=p.V647G;VC=Missense;Gene=PER3/NM_001289863.1/0;CC=c.1919T>G;ProtCh=p.V640G;VC=Missense;Gene=PER3/NM_001289864.1/0;CC=c.983T>G;ProtCh=p.V328G;VC=Missense;Gene=PER3/NM_016831.2/0;CC=c.1916T>G;ProtCh=p.V639G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:118:73:0:0:2,47,69:18,1570,2159:-0.26,145.41,0.00:-0.20,55.78,0.00:-0.06,89.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:105.0,38.6,5.2:0,0,0:0,0,0:106,99,80:44,42,60:11,24,31:NM_016831.1(PER3) c.1916T>G (p.Val639Gly),-:0.12,-:0.158927,- 1 7880701 . G . . NT END=7886539;NT GT ./. 1 7886771 . G . . NT END=7887177;NT GT ./. 1 7887493 rs228696 T C 430 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=T/0.02476,C/0.9752;PC=0.001;Gene=PER3/NM_001289861.1/1;CC=c.2504T>C;ProtCh=p.L835P;VC=Missense;Gene=PER3/NM_001289862.1/0;CC=c.2504T>C;ProtCh=p.L835P;VC=Missense;Gene=PER3/NM_001289863.1/0;CC=c.2483T>C;ProtCh=p.L828P;VC=Missense;Gene=PER3/NM_001289864.1/0;CC=c.1547T>C;ProtCh=p.L516P;VC=Missense;Gene=PER3/NM_016831.2/0;CC=c.2480T>C;ProtCh=p.L827P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:126:71:0:0:126:3706:430.10:182.70:247.39:1.00:1.00:1.00:60:43.6:0:0:76:68:33:NM_016831.1(PER3) c.2480T>C (p.Leu827Pro),NM_016831.1(PER3) c.2480T>C (p.Leu827Pro):0.97,0.97:0.961018,0.961018 1 7887876 . G . . NT END=7889893;NT GT ./. 1 7889804 rs228701 C G 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.2995,G/0.7005;PC=0.003;Gene=PER3/NM_001289861.1/1;CC=c.2887-93C>G;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.2887-90C>G;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.2866-93C>G;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.1930-93C>G;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.2863-93C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:27:0:0:11,16:343,524:0.00,52.13:0.00,52.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.2,35.3:0,0:0,0:48,42:101,108:33,35:-,NM_016831.1(PER3) c.2863-93C>G:-,0.71:-,NOT_FOUND 1 7890053 rs1776342 G A 33 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=23;Gene=PER3/NM_001289861.1/1;CC=c.3002-13G>A;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.3046G>A;ProtCh=p.A1016T;VC=Missense;Gene=PER3/NM_001289863.1/0;CC=c.2981-13G>A;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.2086G>A;ProtCh=p.A696T;VC=Missense;Gene=PER3/NM_016831.2/0;CC=c.3019G>A;ProtCh=p.A1007T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:109:67:0:0:16,1,91,1:452,15,2843,11:33.33,-0.10,0.00,-0.24:13.81,0.09,0.00,-0.17:19.51,-0.18,0.00,-0.07:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:102.9,59.0,54.2,89.0:0,0,0,0:0,0,0,0:124,150,49,33:24,1,94,116:10,0,25,0:NM_016831.1(PER3) c.3019G>A (p.Ala1007Thr),-:NOT_FOUND,-:NOT_FOUND,- 1 7890055 rs11121034 T A 33 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=NA;Gene=PER3/NM_001289861.1/1;CC=c.3002-11T>A;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.3048T>A;ProtCh=p.A1016=;VC=Silent;Gene=PER3/NM_001289863.1/0;CC=c.2981-11T>A;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.2088T>A;ProtCh=p.A696=;VC=Silent;Gene=PER3/NM_016831.2/0;CC=c.3021T>A;ProtCh=p.A1007=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:103:63:0:0:14,1,88:442,7,2749:33.20,-0.34,0.00:13.64,-0.14,0.00:19.57,-0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,18,60:116.1,18.0,57.7:0,0,0:0,0,0:126,93,51:23,15,94:8,0,21:NM_016831.1(PER3) c.3021T>A (p.(=)),-:0.06,-:NOT_FOUND,- 1 7890064 rs12023156 A G 217 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.7552,G/0.2448;PC=0.007;Gene=PER3/NM_001289861.1/1;CC=c.3002-2A>G;VC=SpliceSiteCDS;Gene=PER3/NM_001289862.1/0;CC=c.3057A>G;ProtCh=p.T1019=;VC=Silent;Gene=PER3/NM_001289863.1/0;CC=c.2981-2A>G;VC=SpliceSiteCDS;Gene=PER3/NM_001289864.1/0;CC=c.2097A>G;ProtCh=p.T699=;VC=Silent;Gene=PER3/NM_016831.2/0;CC=c.3030A>G;ProtCh=p.T1010=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:107:58:0:0:34,1,71,1:1047,13,2124,11:0.00,0.04,217.27,-0.02:0.00,0.13,95.43,0.07:0.00,-0.09,121.84,-0.09:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,31,60,59:69.2,72.0,64.8,46.0:0,0,0,0:0,0,0,0:43,96,77,62:105,30,68,63:14,0,32,0:-,NM_016831.1(PER3) c.3030A>G (p.(=)):-,0.27:-,NOT_FOUND 1 7890069 rs12750400 C T 23 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=NA;PC=0.009;Gene=PER3/NM_001289861.1/1;CC=c.3005C>T;ProtCh=p.S1002L;VC=Missense;Gene=PER3/NM_001289862.1/0;CC=c.3062C>T;ProtCh=p.S1021L;VC=Missense;Gene=PER3/NM_001289863.1/0;CC=c.2984C>T;ProtCh=p.S995L;VC=Missense;Gene=PER3/NM_001289864.1/0;CC=c.2102C>T;ProtCh=p.S701L;VC=Missense;Gene=PER3/NM_016831.2/0;CC=c.3035C>T;ProtCh=p.S1012L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:106:57:0:0:96,10:2959,327:0.00,23.10:0.00,5.56:0.00,17.55:0.00,0.98:0.00,0.98:0.00,0.99:60,60:58.5,127.0:0,0:0,0:60,136:82,9:24,6:-,NM_016831.1(PER3) c.3035C>T (p.Ser1012Leu):-,NOT_FOUND:-,NOT_FOUND 1 7890117 rs2640909 T C 159 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.8147,C/0.1853;PC=0.005;Gene=PER3/NM_001289861.1/1;CC=c.3053T>C;ProtCh=p.M1018T;VC=Missense;Gene=PER3/NM_001289862.1/0;CC=c.3110T>C;ProtCh=p.M1037T;VC=Missense;Gene=PER3/NM_001289863.1/0;CC=c.3032T>C;ProtCh=p.M1011T;VC=Missense;Gene=PER3/NM_001289864.1/0;CC=c.2150T>C;ProtCh=p.M717T;VC=Missense;Gene=PER3/NM_016831.2/0;CC=c.3083T>C;ProtCh=p.M1028T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:118:57:0:0:58,60:1674,1820:159.28,0.00:47.00,0.00:112.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.3,54.2:0,0:0,0:68,92:82,59:32,31:NM_016831.1(PER3) c.3083T>C (p.Met1028Thr),-:0.19,-:0.238275,- 1 7890153 rs144178755 C T 135 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=19;PC=0.058;Gene=PER3/NM_001289861.1/1;CC=c.3089C>T;ProtCh=p.T1030I;VC=Missense;Gene=PER3/NM_001289862.1/0;CC=c.3146C>T;ProtCh=p.T1049I;VC=Missense;Gene=PER3/NM_001289863.1/0;CC=c.3068C>T;ProtCh=p.T1023I;VC=Missense;Gene=PER3/NM_001289864.1/0;CC=c.2186C>T;ProtCh=p.T729I;VC=Missense;Gene=PER3/NM_016831.2/0;CC=c.3119C>T;ProtCh=p.T1040I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:53:0:0:62,48:2112,1452:0.00,135.29:0.00,79.22:0.00,56.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.9,52.7:0,0:0,0:77,74:68,76:31,40:-,NM_016831.1(PER3) c.3119C>T (p.Thr1040Ile):-,0.0005:-,0.001845 1 7890222 . G . . NT END=7895821;NT GT ./. 1 7890264 rs1773135 A G 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.2991,G/0.7009;Gene=PER3/NM_001289861.1/1;CC=c.3157+43A>G;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.3214+43A>G;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.3136+43A>G;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.2254+43A>G;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.3187+43A>G;VC=Intron;DM=PER3/Period_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:15:0:0:36,19:1120,657:0.00,59.38:0.00,7.59:0.00,51.78:0.00,1.00:0.00,0.99:0.00,1.00:60,60:11.4,41.4:0,0:0,0:93,103:52,48:30,22:-,NM_016831.1(PER3) c.3187+43A>G:-,0.71:-,0.650161 1 7895746 . G T 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;NP=2;Gene=PER3/NM_001289861.1/1;CC=c.3158-76G>T;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.3215-76G>T;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.3137-76G>T;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.2255-76G>T;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.3188-76G>T;VC=Intron;DM=PER3/Period_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:26:0:0:14,14:465,439:0.00,42.14:0.00,35.59:0.00,6.55:0.00,1.00:0.00,1.00:0.00,0.73:60,60:3.9,33.1:0,0:0,0:60,81:90,69:24,23:-,NM_016831.1(PER3) c.3188-76G>T:-,NOT_FOUND:-,NOT_FOUND 1 7896006 . G . . NT END=7897058;NT GT ./. 1 7896182 rs12034453 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8179,T/0.1821;PC=0.004;Gene=PER3/NM_001289861.1/1;CC=c.3341+177C>T;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.3398+177C>T;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.3320+177C>T;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.2438+177C>T;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.3371+177C>T;VC=Intron;DM=PER3/Period_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:7:0:0:0:4,3:123,100:0.00,9.36:0.00,0.00:0.00,9.36:0.00,0.69:0.00,0.00:0.00,0.69:60,60:20.0,78.3:0,0:0,0:122,138:27,12:12,10:-,NM_016831.1(PER3) c.3371+177C>T:-,0.17:-,NOT_FOUND 1 7897133 rs10462021 A G 127 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.879,G/0.121;Gene=PER3/NM_001289861.1/1;CC=c.3416A>G;ProtCh=p.H1139R;VC=Missense;Gene=PER3/NM_001289862.1/0;CC=c.3473A>G;ProtCh=p.H1158R;VC=Missense;Gene=PER3/NM_001289863.1/0;CC=c.3395A>G;ProtCh=p.H1132R;VC=Missense;Gene=PER3/NM_001289864.1/0;CC=c.2513A>G;ProtCh=p.H838R;VC=Missense;Gene=PER3/NM_016831.2/0;CC=c.3446A>G;ProtCh=p.H1149R;VC=Missense;DM=PER3/Period_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:89:63:0:0:44,45:1446,1329:0.00,127.29:0.00,52.87:0.00,74.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,39.0:0,0:0,0:79,47:68,99:24,32:-,NM_016831.1(PER3) c.3446A>G (p.His1149Arg):-,0.12:-,0.158927 1 7897210 . G . . NT END=7902685;NT GT ./. 1 7902559 . CA C 7 rn VT=DEL;SST=Single;DP=29;PC=0.046;Gene=PER3/NM_001289861.1/1;CC=c.3493-162delA;VC=Intron;Gene=PER3/NM_001289862.1/0;CC=c.3550-162delA;VC=Intron;Gene=PER3/NM_001289863.1/0;CC=c.3472-162delA;VC=Intron;Gene=PER3/NM_001289864.1/0;CC=c.2590-162delA;VC=Intron;Gene=PER3/NM_016831.2/0;CC=c.3523-162delA;VC=Intron;DM=PER3/Period_C;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,CA,I,C:29:27:1:3:1,24,1,3:11,795,34,95:-0.03,0.00,2.05,6.84:-0.33,0.00,2.08,6.94:0.30,0.00,-0.03,-0.09:0.00,0.00,0.00,0.43:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.36:60,60,60,60:11.0,5.8,0.0,0.0:0,0,0,0:0,0,0,0:9,56,93,13:142,95,57,137:0,45,0,1:-,NM_016831.1(PER3) c.3523-172delA:-,NOT_FOUND:-,NOT_FOUND 1 7902816 . G . . NT END=7907825;NT GT ./. 1 7907620 rs372851387 A ATAAT 24 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=635;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:ATAAT:7:7:7:0:7:207:24.04:24.04:0.00:1.00:1.00:0.00:70:31.6:0:0:96:55:33:chr1 g.7907620_7907621insTAAT (intergenic),chr1 g.7907620_7907621insTAAT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 7907943 . C . . NT END=7909699;NT GT ./. 1 7909744 . C . . NT END=7910871;NT GT ./. 1 7910983 . C . . NT END=7912960;NT GT ./. 1 7911242 rs228649 A G 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.01577,G/0.9842;Gene=UTS2/NM_006786.3/0;CC=c.104-260T>C;VC=Intron;Gene=UTS2/NM_021995.2/1;CC=c.149-260T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:259:29.71:0.00:29.71:1.00:0.00:1.00:60:51.0:0:0:88:62:16:NM_021995.2(UTS2) c.149-260T>C,NM_021995.2(UTS2) c.149-260T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 7913029 rs34305100 A G 117 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.9169,G/0.08307;PC=0.003;Gene=UTS2/NM_006786.3/0;CC=c.35T>C;ProtCh=p.I12T;VC=Missense;Gene=UTS2/NM_021995.2/1;CC=c.126-46T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:55:0:0:37,36:1197,1214:0.00,116.57:0.00,74.63:0.00,41.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,40.7:0,0:0,0:86,71:59,77:37,23:-,NM_021995.2(UTS2) c.126-46T>C:-,0.11:-,0.142703 1 7913105 . T . . NT END=7913366;NT GT ./. 1 7913184 . C CA 9 idl,rn VT=INS;SST=Single;DP=46;NP=2;Gene=UTS2/NM_021995.2/1;CC=c.125+182dupT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,CA,D:44:24:5:6:35,5,4:986,136,174:0.00,9.44,7.70:0.00,4.78,5.83:0.00,4.66,1.87:0.00,0.74,0.00:0.00,0.86,0.00:0.00,0.93,0.00:60,70,60:19.9,34.4,19.0:0,0,2:0,0,0:112,31,53:31,120,97:26,26,44:-,NM_021995.2(UTS2) c.125+182_125+183insT:-,NOT_FOUND:-,NOT_FOUND 1 7913430 rs228648 G A 87 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.5216,A/0.4784;PC=0.001;Gene=UTS2/NM_021995.2/1;CC=c.62C>T;ProtCh=p.T21M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:38:0:0:27,32:918,989:87.04,0.00:46.14,0.00:40.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,44.2:0,0:0,0:90,71:61,78:41,32:NM_021995.2(UTS2) c.62C>T (p.Thr21Met),-:0.46,-:0.536983,- 1 7913445 rs13306061 C T 105 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.9149,T/0.08506;PC=0.001;Gene=UTS2/NM_021995.2/1;CC=c.47G>A;ProtCh=p.R16Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:39:0:0:29,33:886,1082:0.00,105.32:0.00,43.75:0.00,61.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,46.3:0,0:0,0:60,80:91,70:45,26:-,NM_021995.2(UTS2) c.47G>A (p.Arg16Gln):-,0.11:-,0.145394 1 7913492 . T . . NT END=7980894;NT GT ./. 1 7980984 . C . . NT END=7993221;NT GT ./. 1 7993357 . C . . NT END=7995072;NT GT ./. 1 7995204 . C . . NT END=7997749;NT GT ./. 1 7997817 . C . . NT END=7998252;NT GT ./. 1 7998391 . C . . NT END=7998780;NT GT ./. 1 7998889 . C . . NT END=7999954;NT GT ./. 1 7998963 rs226476 T G 110 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.01198,G/0.988;PC=0.002;Gene=TNFRSF9/NM_001561.5/1;CC=c.101-75A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:G:30:3:0:0:30:962:110.45:6.02:104.43:1.00:1.00:1.00:60:45.2:0:0:83:66:35:NM_001561.5(TNFRSF9) c.101-75A>C,NM_001561.5(TNFRSF9) c.101-75A>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 8000055 . G . . NT END=8022845;NT GT ./. 1 8002266 rs58036621 TGGA T 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.005;Gene=TNFRSF9/NM_001561.5/1;CC=c.-235+930_-235+932delTCC;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:TGGA,T:5:4:0:4:1,4:24,136:0.00,14.42:0.00,7.21:0.00,7.21:0.00,0.96:0.00,1.00:0.00,1.00:27,60:22.0,20.5:0,0:0,0:113,46:38,104:0,15:-,NM_001561.5(TNFRSF9) c.-235+930_-235+932delTCC:-,NOT_FOUND:-,NOT_FOUND 1 8022772 rs144768319 CAG C 32 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=CAG/0.8466,C/0.1534;NP=361;Gene=PARK7/NM_001123377.1/0;CC=c.-23-50_-23-49delAG;VC=Intron;Gene=PARK7/NM_007262.4/1;CC=c.-23-50_-23-49delAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAG,C:18:18:0:10:8,10:254,321:0.00,31.50:0.00,29.74:0.00,1.76:0.00,1.00:0.00,1.00:0.00,0.70:60,60:56.0,26.3:0,0:0,0:46,85:104,55:27,16:-,NM_007262.4(PARK7) c.-23-50_-23-49delAG:-,NOT_FOUND:-,NOT_FOUND 1 8022800 rs370370394 CT C 8 idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=14;PC=0.001;Gene=PARK7/NM_001123377.1/0;CC=c.-23-4delT;VC=Intron;Gene=PARK7/NM_007262.4/1;CC=c.-23-4delT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CT,I,C:18:21:2:5:14,1,3:428,62,162:0.00,2.16,7.86:0.00,2.18,7.93:0.00,-0.02,-0.07:0.00,0.00,0.49:0.00,0.00,0.49:0.00,0.00,0.39:60,60,60:42.8,225.0,69.0:0,1,2:0,0,0:82,45,85:59,105,66:43,6,22:-,NM_007262.4(PARK7) c.-23-22delT:-,NOT_FOUND:-,NOT_FOUND 1 8022937 . T . . NT END=8025383;NT GT ./. 1 8025275 rs7517357 C T 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8986,T/0.1014;Gene=PARK7/NM_001123377.1/0;CC=c.91-109C>T;VC=Intron;Gene=PARK7/NM_007262.4/1;CC=c.91-109C>T;VC=Intron;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:17:0:0:8,9:263,295:0.00,28.69:0.00,28.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.4,41.9:0,0:0,0:36,62:114,88:25,24:-,NM_007262.4(PARK7) c.91-109C>T:-,0.11:-,NOT_FOUND 1 8025487 . T . . NT END=8029404;NT GT ./. 1 8029466 . T . . NT END=8030953;NT GT ./. 1 8029494 rs2641116 T G 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.6839,G/0.3161;Gene=PARK7/NM_001123377.1/0;CC=c.252+30T>G;VC=Intron;Gene=PARK7/NM_007262.4/1;CC=c.252+30T>G;VC=Intron;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:17:0:0:15,16:470,380:44.93,0.00:14.34,0.00:30.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:88.3,41.1:0,0:0,0:112,97:31,40:14,33:NM_007262.4(PARK7) c.252+30T>G,-:0.37,-:0.199446,- 1 8029509 rs2640906 G A 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6078,GA/0.0599,GAA/.,GGG/.;DB;DBA=NA;PAF=G/0.6078,A/0.3323;Gene=PARK7/NM_001123377.1/0;CC=c.252+45G>A;VC=Intron;Gene=PARK7/NM_007262.4/1;CC=c.252+45G>A;VC=Intron;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:27:10:0:0:14,11,2:402,266,31:39.39,0.00,1.54:5.41,0.00,0.36:33.98,0.00,1.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:107.2,51.4,46.0:0,0,0:0,0,0:112,91,69:38,32,81:15,23,40:NM_007262.4(PARK7) c.252+45G>A,-:0.31,-:NOT_FOUND,- 1 8029510 rs556366879 G A 45 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=PARK7/NM_001123377.1/0;CC=c.252+46G>A;VC=Intron;Gene=PARK7/NM_007262.4/1;CC=c.252+46G>A;VC=Intron;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:27:10:0:0:16,10,1:450,283,10:45.05,0.00,0.13:7.07,0.00,0.22:37.98,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:100.9,40.4,205.0:0,0,0:0,0,0:113,89,116:37,47,31:15,19,0:NM_007262.4(PARK7) c.252+46G>A,-:0.42,-:NOT_FOUND,- 1 8030856 rs6703670 G A 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.9347,A/0.0653;Gene=PARK7/NM_001123377.1/0;CC=c.253-98G>A;VC=Intron;Gene=PARK7/NM_007262.4/1;CC=c.253-98G>A;VC=Intron;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI;DM=PARK7/DJ-1_PfpI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:44:0:0:20,25:602,823:56.32,0.00:53.11,0.00:3.21,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:39.9,5.7:0,0:0,0:18,46:131,105:18,24:NM_007262.4(PARK7) c.253-98G>A,-:0.05,-:NOT_FOUND,- 1 8031025 . T . . NT END=8037711;NT GT ./. 1 8037800 . T . . NT END=8044953;NT GT ./. 1 8045116 . G . . NT END=8073269;NT GT ./. 1 8074457 . C . . NT END=8075367;NT GT ./. 1 8075461 . C . . NT END=8075554;NT GT ./. 1 8075680 . T . . NT END=8384389;NT GT ./. 1 8075894 rs370812 C T 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3616,T/0.6384;Gene=ERRFI1/NM_018948.3/1;CC=c.-73-142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:10,8:341,258:0.00,24.25:0.00,0.00:0.00,24.25:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,45.0:0,0:0,0:90,112:60,38:21,17:-,NM_018948.3(ERRFI1) c.-73-142G>A:-,0.69:-,NOT_FOUND 1 8075934 rs2294889 A G 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.895,G/0.105;Gene=ERRFI1/NM_018948.3/1;CC=c.-73-182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:11:0:0:0:8,3:263,102:0.00,8.83:0.00,0.00:0.00,8.83:0.00,0.60:0.00,0.00:0.00,0.60:60,60:0.0,67.3:0,0:0,0:121,127:30,23:16,8:-,NM_018948.3(ERRFI1) c.-73-182T>C:-,0.12:-,NOT_FOUND 1 8379063 rs61785826 G T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9479,T/0.05212;Gene=SLC45A1/NM_001080397.2/1;CC=c.78+817G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:129:14.81:10.83:3.98:1.00:1.00:1.00:60:50.8:0:0:14:137:9:NM_001080397.1(SLC45A1) c.1-u5327G>T,NM_001080397.1(SLC45A1) c.1-u5327G>T:0.08,0.08:NOT_FOUND,NOT_FOUND 1 8384268 rs6702047 T C 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.02756,C/0.9724;Gene=SLC45A1/NM_001080397.2/1;CC=c.79-98T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:27:0:0:28:911:104.45:96.41:8.04:1.00:1.00:1.00:60:37.7:0:0:32:118:20:NM_001080397.1(SLC45A1) c.1-u122T>C,NM_001080397.1(SLC45A1) c.1-u122T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 8384787 . G . . NT END=8385357;NT GT ./. 1 8385451 . G . . NT END=8385877;NT GT ./. 1 8386103 . G . . NT END=8390268;NT GT ./. 1 8389942 rs1473498 A G 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.009585,G/0.9904;NP=138;Gene=SLC45A1/NM_001080397.2/1;CC=c.818-327A>G;VC=Intron;DM=SLC45A1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:108:12.67:12.67:0.00:1.00:1.00:0.00:60:83.2:0:0:35:115:14:NM_001080397.1(SLC45A1) c.716-327A>G,NM_001080397.1(SLC45A1) c.716-327A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 8390008 rs1473497 A G 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3644,G/0.6356;Gene=SLC45A1/NM_001080397.2/1;CC=c.818-261A>G;VC=Intron;DM=SLC45A1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:8:0:0:8:244:28.17:28.17:0.00:1.00:1.00:0.00:60:74.0:0:0:71:80:27:NM_001080397.1(SLC45A1) c.716-261A>G,NM_001080397.1(SLC45A1) c.716-261A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 8390051 rs1473496 G A 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.529,A/0.471;PC=0.001;Gene=SLC45A1/NM_001080397.2/1;CC=c.818-218G>A;VC=Intron;DM=SLC45A1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:448:51.92:51.92:0.00:1.00:1.00:0.00:60:64.8:0:0:27:123:19:NM_001080397.1(SLC45A1) c.716-218G>A,NM_001080397.1(SLC45A1) c.716-218G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 8390495 rs397839532 A G 429 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.2236,G/0.7764;DB;DBA=NA;PAF=NA;Gene=SLC45A1/NM_001080397.2/1;CC=c.1044A>G;ProtCh=p.P348=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:125:80:0:0:2,122,1:21,3734,34:0.37,429.38,1.79:0.37,199.48,1.79:0.00,229.89,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:82.5,41.4,54.0:0,0,0:0,0,0:115,61,10:35,87,139:8,42,0:NM_001080397.1(SLC45A1) c.942A>G (p.(=)),NM_001080397.1(SLC45A1) c.942A>G (p.(=)):0.77,0.77:0.743639,0.743639 1 8390997 . G . . NT END=8395496;NT GT ./. 1 8395651 . G . . NT END=8397875;NT GT ./. 1 8397639 rs3861749 T C 22 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.001597,C/0.9984;PC=0.076;Gene=SLC45A1/NM_001080397.2/1;CC=c.1700-237T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:190:21.86:20.02:1.84:1.00:1.00:1.00:60:49.8:0:0:68:82:52:NM_001080397.1(SLC45A1) c.1598-237T>C,NM_001080397.1(SLC45A1) c.1598-237T>C:1,1:NOT_FOUND,NOT_FOUND 1 8397803 rs7520373 C T 139 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.6863,T/0.3137;Gene=SLC45A1/NM_001080397.2/1;CC=c.1700-73C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:T:40:36:0:0:40:1198:138.65:115.39:23.26:1.00:1.00:1.00:60:47.6:0:0:24:125:16:NM_001080397.1(SLC45A1) c.1598-73C>T,NM_001080397.1(SLC45A1) c.1598-73C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 1 8398053 . G . . NT END=8399552;NT GT ./. 1 8399759 . G . . NT END=8403806;NT GT ./. 1 8404074 . C . . NT END=8415146;NT GT ./. 1 8404169 rs6685844 T A 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.003395,A/0.9966,G/.;NP=3277;PC=0.001;Gene=SLC45A1/NM_001080397.2/1;CC=c.*96T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:3:0:0:32:1018:117.01:5.97:111.04:1.00:1.00:1.00:60:46.3:0:0:95:56:25:NM_001080397.1(SLC45A1) c.*96T>A,NM_001080397.1(SLC45A1) c.*96T>A:1,1:NOT_FOUND,NOT_FOUND 1 8415181 . C . . NT END=8415478;NT GT ./. 1 8415660 . C . . NT END=8416159;NT GT ./. 1 8416307 . C . . NT END=8418255;NT GT ./. 1 8418644 rs11121172 C A 396 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.2025,A/0.7975;Gene=RERE/NM_001042682.1/0;CC=c.2289G>T;ProtCh=p.R763=;VC=Silent;Gene=RERE/NM_001042681.1/0;CC=c.3951G>T;ProtCh=p.R1317=;VC=Silent;Gene=RERE/NM_012102.3/1;CC=c.3951G>T;ProtCh=p.R1317=;VC=Silent;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:116:70:0:0:113,2,1:3459,35,8:395.50,0.00,0.05:182.14,0.00,-0.00:213.36,0.00,0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.2,88.5,47.0:0,0,0:0,0,0:86,69,42:55,81,109:35,54,0:NM_012102.3(RERE) c.3951G>T (p.(=)),NM_012102.3(RERE) c.3951G>T (p.(=)):0.78,0.78:0.730781,0.730781 1 8418650 rs1058766 T C 405 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.1999,C/0.8001;PC=0.022;Gene=RERE/NM_001042682.1/0;CC=c.2283A>G;ProtCh=p.R761=;VC=Silent;Gene=RERE/NM_001042681.1/0;CC=c.3945A>G;ProtCh=p.R1315=;VC=Silent;Gene=RERE/NM_012102.3/1;CC=c.3945A>G;ProtCh=p.R1315=;VC=Silent;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:115:73:0:0:114,1:3518,6:405.46,0.03:193.23,0.03:212.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.7,56.0:0,0:0,0:76,108:65,43:44,0:NM_012102.3(RERE) c.3945A>G (p.(=)),NM_012102.3(RERE) c.3945A>G (p.(=)):0.78,0.78:0.733863,0.733863 1 8418977 . C . . NT END=8419823;NT GT ./. 1 8419629 rs7525559 T C 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5224,C/0.4776;Gene=RERE/NM_001042682.1/0;CC=c.1956+195A>G;VC=Intron;Gene=RERE/NM_001042681.1/0;CC=c.3618+195A>G;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.3618+195A>G;VC=Intron;DM=RERE/Atrophin-1;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:483:55.45:55.45:0.00:1.00:1.00:0.00:60:44.5:0:0:47:104:30:NM_012102.3(RERE) c.3618+195A>G,NM_012102.3(RERE) c.3618+195A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 8420047 . C . . NT END=8420171;NT GT ./. 1 8421092 rs2784735 C T 381 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.5421,T/0.4579;Gene=RERE/NM_001042682.1/0;CC=c.813G>A;ProtCh=p.P271=;VC=Silent;Gene=RERE/NM_001042681.1/0;CC=c.2475G>A;ProtCh=p.P825=;VC=Silent;Gene=RERE/NM_012102.3/1;CC=c.2475G>A;ProtCh=p.P825=;VC=Silent;DM=RERE/Atrophin-1;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:118:80:0:0:1,3,114:31,39,3299:0.00,1.13,380.58:0.00,0.00,208.11:0.00,1.13,172.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:0.0,104.3,52.9:0,0,0:0,0,0:124,42,67:17,109,80:0,11,44:NM_012102.3(RERE) c.2475G>A (p.(=)),NM_012102.3(RERE) c.2475G>A (p.(=)):0.51,0.51:0.327534,0.327534 1 8421203 rs13596 T C 387 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.2001,C/0.7999;Gene=RERE/NM_001042682.1/0;CC=c.702A>G;ProtCh=p.P234=;VC=Silent;Gene=RERE/NM_001042681.1/0;CC=c.2364A>G;ProtCh=p.P788=;VC=Silent;Gene=RERE/NM_012102.3/1;CC=c.2364A>G;ProtCh=p.P788=;VC=Silent;DM=RERE/Atrophin-1;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:108:73:0:0:108:3362:387.23:207.82:179.41:1.00:1.00:1.00:60:55.0:0:0:89:62:36:NM_012102.3(RERE) c.2364A>G (p.(=)),NM_012102.3(RERE) c.2364A>G (p.(=)):0.78,0.78:0.729167,0.729167 1 8421551 . C . . NT END=8421822;NT GT ./. 1 8421937 . C . . NT END=8422742;NT GT ./. 1 8422676 rs2252865 T C 204 nt VT=SNV;PN=A;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.2019,C/0.7981;Gene=RERE/NM_001042682.1/0;CC=c.240+67A>G;VC=Intron;Gene=RERE/NM_001042681.1/0;CC=c.1902+67A>G;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.1902+67A>G;VC=Intron;DM=RERE/Atrophin-1;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C:54:52:0:0:54:1782:203.91:185.77:18.15:1.00:1.00:1.00:60:39.1:0:0:45:106:21:NM_012102.3(RERE) c.1902+67A>G,NM_012102.3(RERE) c.1902+67A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 8422905 . C . . NT END=8424115;NT GT ./. 1 8424316 . C . . NT END=8424805;NT GT ./. 1 8424899 . C . . NT END=8425871;NT GT ./. 1 8424970 . T G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;Gene=RERE/NM_001042682.1/0;CC=c.-215-72A>C;VC=Intron;Gene=RERE/NM_001042681.1/0;CC=c.1448-72A>C;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.1448-72A>C;VC=Intron;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:G,T:18:10:0:0:6,12:101,313:7.96,0.00:-1.76,0.00:9.72,0.00:0.94,0.00:0.97,0.00:0.94,0.00:60,60:87.2,8.3:1,0:0,0:31,116:104,34:29,11:NM_012102.3(RERE) c.1448-72A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 8424978 . A G 10 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;NP=1;Gene=RERE/NM_001042682.1/0;CC=c.-215-80T>C;VC=Intron;Gene=RERE/NM_001042681.1/0;CC=c.1448-80T>C;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.1448-80T>C;VC=Intron;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,C,G:16:7:0:0:10,1,5:242,8,113:0.00,0.01,9.53:0.00,-0.19,-1.13:0.00,0.20,10.66:0.00,0.00,0.88:0.00,0.00,0.90:0.00,0.00,0.94:60,60,60:30.8,32.0,67.2:0,0,0:0,0,0:118,5,51:29,146,61:12,0,11:-,NM_012102.3(RERE) c.1448-80T>C:-,NOT_FOUND:-,NOT_FOUND 1 8424984 rs398089117 GA G 26 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GA/0.228,G/0.772;DB;DBA=NA;PAF=GA/0.228,G/0.772;NP=27;Gene=RERE/NM_001042682.1/0;CC=c.-215-87delT;VC=Intron;Gene=RERE/NM_001042681.1/0;CC=c.1448-87delT;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.1448-87delT;VC=Intron;DM=RERE/Atrophin-1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:16:7:0:9:7,9:196,267:0.00,26.24:0.00,20.22:0.00,6.02:0.00,1.00:0.00,0.99:0.00,1.00:60,60:58.3,29.8:1,0:0,0:22,125:129,21:11,5:-,NM_012102.3(RERE) c.1448-87delT:-,0.76:-,NOT_FOUND 1 8424985 rs202086336 A G,AGCGGGG 20 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:G,AGCGGGG:7:0:1:11:6,1:176,19:20.02,1.54:0.00,0.00:20.02,1.54:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.5,33.0:0,0:0,0:20,58:131,54:6,0:NM_012102.3(RERE) c.1448-87T>C,NM_012102.3(RERE) c.1448-88_1448-87insCCCCGC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 8426035 . C . . NT END=8482786;NT GT ./. 1 8482868 . C . . NT END=8483620;NT GT ./. 1 8483748 . G . . NT END=8525984;NT GT ./. 1 8526084 . C . . NT END=8555122;NT GT ./. 1 8526142 rs4908760 G A 146 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.3093,A/0.6907;PC=0.001;Gene=RERE/NM_001042681.1/0;CC=c.1105-59C>T;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.1105-59C>T;VC=Intron;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:A:42:15:0:0:42:1258:145.60:29.95:115.65:1.00:1.00:1.00:60:40.8:0:0:116:34:21:NM_012102.3(RERE) c.1105-59C>T,NM_012102.3(RERE) c.1105-59C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 8555223 . C . . NT END=8557464;NT GT ./. 1 8555372 rs111493554 AT A 17 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;PC=0.411;Gene=RERE/NM_001042681.1/0;CC=c.1005-151delA;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.1005-151delA;VC=Intron;DM=RERE/Atrophin-1;DM=RERE/ELM2;DM=RERE/ELM2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:AT,I,A:18:0:2:6:10,2,6:267,61,184:0.00,4.64,16.65:0.00,0.00,0.00:0.00,4.64,16.65:0.00,0.00,0.94:0.00,0.00,0.00:0.00,0.00,0.94:60,60,60:40.2,0.0,21.5:0,0,0:0,0,0:125,75,79:23,74,65:18,17,13:-,NM_012102.3(RERE) c.1005-151delA:-,NOT_FOUND:-,NOT_FOUND 1 8557320 rs7518608 C G 98 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4034,G/0.5966;Gene=RERE/NM_001042681.1/0;CC=c.1004+145G>C;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.1004+145G>C;VC=Intron;DM=RERE/Atrophin-1;DM=RERE/ELM2;DM=RERE/ELM2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A,G:27:27:0:0:1,26:8,865:0.19,98.47:0.19,98.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:48,60:181.0,39.2:0,0:0,0:30,50:96,100:0,18:NM_012102.3(RERE) c.1004+145G>C,NM_012102.3(RERE) c.1004+145G>C:0.64,0.64:NOT_FOUND,NOT_FOUND 1 8557590 . C . . NT END=8568685;NT GT ./. 1 8557691 rs7530745 A C 93 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.3057,C/0.6943;Gene=RERE/NM_001042681.1/0;CC=c.880-102T>G;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.880-102T>G;VC=Intron;DM=RERE/ELM2;DM=RERE/ELM2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:5:0:0:26:808:93.15:11.53:81.62:1.00:1.00:1.00:60:37.8:0:0:109:41:27:NM_012102.3(RERE) c.880-102T>G,NM_012102.3(RERE) c.880-102T>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 8558876 rs4908503 T G 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1374,G/0.8626;Gene=RERE/NM_001042681.1/0;CC=c.880-1287A>C;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.880-1287A>C;VC=Intron;DM=RERE/ELM2;DM=RERE/ELM2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:177:20.53:7.73:12.81:1.00:1.00:1.00:60:61.2:0:0:91:35:3:NM_012102.3(RERE) c.880-1287A>C,NM_012102.3(RERE) c.880-1287A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 8568735 . C . . NT END=8585817;NT GT ./. 1 8586095 . A . . NT END=8601272;NT GT ./. 1 8586333 rs11121197 G A 40 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1607,A/0.8393;Gene=RERE/NM_001042681.1/0;CC=c.830+14940C>T;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.830+14940C>T;VC=Intron;DM=RERE/BAH;DM=RERE/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:0:0:0:12:341:39.77:0.00:39.77:1.00:0.00:1.00:60:42.2:0:0:125:26:17:NM_012102.3(RERE) c.830+14940C>T,NM_012102.3(RERE) c.830+14940C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 8601378 . C . . NT END=8616533;NT GT ./. 1 8616631 . C . . NT END=8617476;NT GT ./. 1 8616838 rs1473420 T G 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4113,G/0.5887;Gene=RERE/NM_001042681.1/0;CC=c.629-208A>C;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.629-208A>C;VC=Intron;DM=RERE/BAH;DM=RERE/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:184:21.26:0.00:21.26:1.00:0.00:1.00:60:56.7:0:0:62:88:32:NM_012102.3(RERE) c.629-208A>C,NM_012102.3(RERE) c.629-208A>C:0.64,0.64:NOT_FOUND,NOT_FOUND 1 8616933 rs12756257 C A 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3806,A/0.6194;Gene=RERE/NM_001042681.1/0;CC=c.629-303G>T;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.629-303G>T;VC=Intron;DM=RERE/BAH;DM=RERE/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:118:13.70:0.00:13.70:1.00:0.00:1.00:60:69.8:0:0:117:34:11:NM_012102.3(RERE) c.629-303G>T,NM_012102.3(RERE) c.629-303G>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 8617583 . C . . NT END=8674619;NT GT ./. 1 8661795 rs6143113 AACACAC A 13 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=20;PC=0.007;Gene=RERE/NM_001042681.1/0;CC=c.522+12819_522+12824delGTGTGT;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.522+12819_522+12824delGTGTGT;VC=Intron;DM=RERE/BAH;DM=RERE/BAH;DM=RERE/Atrophin-1;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:AACACAC,A:9:5:0:6:4,5:85,131:0.00,12.82:0.00,2.36:0.00,10.46:0.00,0.96:0.00,0.98:0.00,0.99:60,60:108.0,35.6:0,0:0,0:105,59:46,92:1,35:-,NM_012102.3(RERE) c.522+12819_522+12824delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 8674746 . C . . NT END=8684368;NT GT ./. 1 8684440 . C . . NT END=8716031;NT GT ./. 1 8693537 rs10779704 A C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4058,C/0.5942;PC=0.008;Gene=RERE/NM_001042681.1/0;CC=c.326-9098T>G;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.326-9098T>G;VC=Intron;DM=RERE/BAH;DM=RERE/BAH;DM=RERE/Atrophin-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:142:16.11:6.07:10.04:1.00:1.00:1.00:60:35.5:0:0:68:64:16:NM_012102.3(RERE) c.326-9098T>G,NM_012102.3(RERE) c.326-9098T>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 8716357 . G . . NT END=8921418;NT GT ./. 1 8716543 rs3737670 G C 136 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.3816,C/0.6184;Gene=RERE/NM_001042681.1/0;CC=c.-144-43C>G;VC=Intron;Gene=RERE/NM_012102.3/1;CC=c.-144-43C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C:36:0:0:0:36:1190:136.14:0.00:136.14:1.00:0.00:1.00:60:43.6:0:0:112:38:19:NM_012102.3(RERE) c.-144-43C>G,NM_012102.3(RERE) c.-144-43C>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 8921489 . C . . NT END=8922945;NT GT ./. 1 8923005 . C . . NT END=8923293;NT GT ./. 1 8923403 . C . . NT END=8923949;NT GT ./. 1 8924152 . C . . NT END=8925337;NT GT ./. 1 8924282 rs1543711 A G 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.2422,G/0.7578;Gene=ENO1/NM_001201483.1/0;CC=c.587-131T>C;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.866-131T>C;VC=Intron;DM=ENO1/Enolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:0:0:0:19:582:67.23:0.00:67.23:1.00:0.00:1.00:60:45.4:0:0:74:77:41:NM_001428.3(ENO1) c.866-131T>C,NM_001428.3(ENO1) c.866-131T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 8925112 rs2765507 T C 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6707,C/0.3293;Gene=ENO1/NM_001201483.1/0;CC=c.586+232A>G;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.865+232A>G;VC=Intron;DM=ENO1/Enolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:11:11:0:0:5,6:163,164:15.42,0.00:15.42,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:39.4,28.0:0,0:0,0:39,40:112,106:10,17:NM_001428.3(ENO1) c.865+232A>G,-:0.35,-:NOT_FOUND,- 1 8925542 . C . . NT END=8926337;NT GT ./. 1 8926285 rs3831913 A AG 55 nt VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.6811,AG/0.3189,AGG/.;NP=1732;PC=0.001;Gene=ENO1/NM_001201483.1/0;CC=c.388+52dupC;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.667+52dupC;VC=Intron;DM=ENO1/Enolase_C;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AG:40:37:19:0:21,19:653,577:0.00,54.75:0.00,49.44:0.00,5.31:0.00,1.00:0.00,1.00:0.00,0.97:60,60:17.8,35.9:0,0:0,0:50,56:101,94:46,31:-,NM_001428.3(ENO1) c.667+52_667+53insC:-,0.34:-,NOT_FOUND 1 8926329 rs2781066 C T 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.9305,T/0.06949;Gene=ENO1/NM_001201483.1/0;CC=c.388+9G>A;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.667+9G>A;VC=Intron;DM=ENO1/Enolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:55:0:0:30,39:969,1215:0.00,119.59:0.00,75.92:0.00,43.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,46.7:0,0:0,0:38,36:112,111:19,26:-,NM_001428.3(ENO1) c.667+9G>A:-,0.07:-,0.12302 1 8926561 . C . . NT END=8927175;NT GT ./. 1 8926752 rs2781065 T C 70 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.1741,C/0.8259;Gene=ENO1/NM_001201483.1/0;CC=c.166-192A>G;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.445-192A>G;VC=Intron;DM=ENO1/Enolase_C;DM=ENO1/Enolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:1:0:0:18:615:70.08:3.98:66.11:1.00:1.00:1.00:60:41.3:0:0:102:48:32:NM_001428.3(ENO1) c.445-192A>G,NM_001428.3(ENO1) c.445-192A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 8926868 rs2781064 C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6811,T/0.3189;Gene=ENO1/NM_001201483.1/0;CC=c.165+308G>A;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.444+308G>A;VC=Intron;DM=ENO1/Enolase_C;DM=ENO1/Enolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:6:4:0:0:2,4:66,104:0.00,10.64:0.00,7.42:0.00,3.22:0.00,0.93:0.00,0.99:0.00,0.91:60,60:16.0,68.5:0,0:0,0:70,68:74,80:43,38:-,NM_001428.3(ENO1) c.445-308G>A:-,0.34:-,NOT_FOUND 1 8927310 . C . . NT END=8928046;NT GT ./. 1 8927611 rs532670381 A T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6302,T/0.3231;DB;DBA=NA;PAF=NA;NP=1;NP=16;Gene=ENO1/NM_001201483.1/0;CC=c.32-302T>A;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.311-302T>A;VC=Intron;DM=ENO1/Enolase_N;DM=ENO1/Enolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,C,T:7:0:0:3:1,1,5:33,13,156:0.00,0.89,16.71:0.00,0.00,0.00:0.00,0.89,16.71:0.00,0.00,0.98:0.00,0.00,0.00:0.00,0.00,0.98:60,60,60:32.0,99.0,43.2:0,0,0:0,0,0:128,60,126:23,55,23:0,0,7:-,NM_001428.3(ENO1) c.311-302T>A:-,NOT_FOUND:-,NOT_FOUND 1 8928117 . C . . NT END=8930510;NT GT ./. 1 8928125 rs2071412 G T 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.6565,T/0.3435;PC=0.953;Gene=ENO1/NM_001201483.1/0;CC=c.-39-9C>A;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.241-9C>A;VC=Intron;DM=ENO1/Enolase_N;DM=ENO1/Enolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:28:0:0:22,18:734,559:0.00,52.51:0.00,23.48:0.00,29.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,45.0:0,0:0,0:88,93:55,51:23,35:-,NM_001428.3(ENO1) c.241-9C>A:-,0.38:-,0.227741 1 8930369 rs2781060 T C 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.2179,C/0.7821;PC=0.001;Gene=ENO1/NM_001201483.1/0;CC=c.-40+142A>G;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.240+142A>G;VC=Intron;DM=ENO1/Enolase_N;DM=ENO1/Enolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:20:0:0:20:643:73.80:73.80:0.00:1.00:1.00:0.00:60:78.0:0:0:50:101:28:NM_001428.3(ENO1) c.240+142A>G,NM_001428.3(ENO1) c.240+142A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 8930385 rs2765511 G A 85 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.2183,A/0.7817;PC=0.001;Gene=ENO1/NM_001201483.1/0;CC=c.-40+126C>T;VC=Intron;Gene=ENO1/NM_001428.3/1;CC=c.240+126C>T;VC=Intron;DM=ENO1/Enolase_N;DM=ENO1/Enolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:24:0:0:24:740:85.35:83.36:1.99:1.00:1.00:1.00:60:72.5:0:0:50:100:32:NM_001428.3(ENO1) c.240+126C>T,NM_001428.3(ENO1) c.240+126C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 8931149 rs2274971 C T 297 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=C/0.6536,T/0.3464;Gene=ENO1/NM_001201483.1/0;CC=c.-678G>A;VC=5UTR;Gene=ENO1/NM_001428.3/1;CC=c.182-580G>A;VC=Intron;DM=ENO1/Enolase_N;DM=ENO1/Enolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:198:142:0:0:102,96:3162,3104:0.00,296.80:0.00,165.18:0.00,131.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,39.3:0,0:0,0:73,70:74,75:38,40:-,NM_001428.3(ENO1) c.182-580G>A:-,0.39:-,NOT_FOUND 1 8931463 rs1006950 T C 460 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=T/0.244,C/0.756;Gene=ENO1/NM_001201483.1/0;CC=c.-992A>G;VC=5UTR;Gene=ENO1/NM_001428.3/1;CC=c.181+487A>G;VC=Intron;DM=ENO1/Enolase_N;DM=ENO1/Enolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:136:80:0:0:1,134,1:9,3985,11:0.05,459.68,0.00:-0.00,228.93,0.00:0.06,230.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:38.0,36.8,0.0:0,0,0:0,0,0:100,67,53:38,80,98:0,38,0:NM_001428.3(ENO1) c.181+487A>G,NM_001428.3(ENO1) c.181+487A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 8931636 . A . . NT END=8931949;NT GT ./. 1 8932046 . C . . NT END=8934882;NT GT ./. 1 8934968 . G . . NT END=9005945;NT GT ./. 1 8935149 rs2038904 A G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1502,G/0.8498;PC=0.001;Gene=ENO1/NM_001428.3/1;CC=c.-9-173T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:110:12.87:0.00:12.87:1.00:0.00:1.00:60:32.0:0:0:109:42:10:NM_001428.3(ENO1) c.-9-173T>C,NM_001428.3(ENO1) c.-9-173T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 9006025 . G . . NT END=9009321;NT GT ./. 1 9006101 . C CT 14 rn VT=INS;SST=Single;DP=22;NP=1;NP=2;PC=0.015;Gene=CA6/NM_001270500.1/0;CC=c.79+91_79+92insT;VC=Intron;Gene=CA6/NM_001215.3/1;CC=c.79+91_79+92insT;VC=Intron;Gene=CA6/NM_001270501.1/0;CC=c.79+91_79+92insT;VC=Intron;Gene=CA6/NM_001270502.1/0;CC=c.24+91_24+92insT;VC=Intron;DM=CA6/Carb_anhydrase;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,T,CT,D:21:6:5:2:14,1,5,1:471,28,161,64:0.00,1.65,13.70,1.85:0.00,-0.06,-0.34,1.01:0.00,1.71,14.04,0.85:0.00,0.00,0.84,0.00:0.00,0.00,0.76,0.00:0.00,0.00,0.98,0.00:60,60,60,60:8.0,28.0,13.4,36.0:0,0,0,1:0,0,0,0:131,149,96,90:15,2,54,60:8,0,14,20:-,NM_001270500.1(CA6) c.79+77_79+78insT:-,NOT_FOUND:-,NOT_FOUND 1 9009502 . G . . NT END=9017195;NT GT ./. 1 9017345 . G . . NT END=9018968;NT GT ./. 1 9019062 . G . . NT END=9022645;NT GT ./. 1 9022716 . G . . NT END=9027717;NT GT ./. 1 9027876 . G . . NT END=9030925;NT GT ./. 1 9027918 rs147673838 G T 82 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=1;NP=2;Gene=CA6/NM_001270500.1/0;CC=c.729+43G>T;VC=Intron;Gene=CA6/NM_001215.3/1;CC=c.729+43G>T;VC=Intron;Gene=CA6/NM_001270501.1/0;CC=c.549+43G>T;VC=Intron;Gene=CA6/NM_001270502.1/0;CC=c.345+43G>T;VC=Intron;DM=CA6/Carb_anhydrase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:49:18:0:0:23,26:765,839:0.00,81.59:0.00,22.96:0.00,58.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,37.6:0,0:0,0:96,94:53,57:30,34:-,NM_001270500.1(CA6) c.729+43G>T:-,NOT_FOUND:-,NOT_FOUND 1 9031041 . G . . NT END=9034405;NT GT ./. 1 9034504 . G . . NT END=9034680;NT GT ./. 1 9034764 . G . . NT END=9063358;NT GT ./. 1 9034815 rs70985563 C CAGA 75 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.252,CAGA/0.748;DB;DBA=NA;PAF=C/0.252,CAGA/0.748;NP=1504;Gene=CA6/NM_001215.3/1;CC=c.*55_*57dupAAG;VC=3UTR;Gene=CA6/NM_001270501.1/0;CC=c.*55_*57dupAAG;VC=3UTR;Gene=CA6/NM_001270502.1/0;CC=c.*55_*57dupAAG;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,CAGA:23:6:21:0:2,21:47,683:0.00,75.38:0.00,16.57:0.00,58.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:67.5,7.0:1,0:0,0:115,98:17,53:30,24:NM_001215.3(CA6) c.*55_*57dupAAG,NM_001215.3(CA6) c.*55_*57dupAAG:NOT_FOUND,NOT_FOUND:0.621409,0.621409 1 9063578 . C . . NT END=9064810;NT GT ./. 1 9063602 rs4908804 G C 145 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.4966,C/0.5034;PC=0.085;Gene=SLC2A7/NM_207420.2/1;CC=c.1321-25C>G;VC=Intron;DM=SLC2A7/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:78:34:0:0:46,32:1460,1014:145.00,0.00:51.25,0.00:93.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.8,10.8:0,0:0,0:106,95:42,47:21,24:NM_207420.2(SLC2A7) c.1321-25C>G,-:0.5,-:0.422036,- 1 9063646 rs4908805 T C 95 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.5313,C/0.4687;PC=0.004;Gene=SLC2A7/NM_207420.2/1;CC=c.1321-69A>G;VC=Intron;DM=SLC2A7/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:49:12:0:0:28,1,20:962,10,627:95.40,0.01,0.00:24.30,-0.02,0.00:71.10,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.5,41.0,6.5:0,0,0:0,0,0:117,50,92:28,101,59:23,0,31:NM_207420.2(SLC2A7) c.1321-69A>G,-:0.46,-:NOT_FOUND,- 1 9064609 rs111448504 AG A 8 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AG/0.8231,A/0.1769;NP=698;Gene=SLC2A7/NM_207420.2/1;CC=c.1320+201delC;VC=Intron;DM=SLC2A7/Sugar_tr;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:AG,A:10:10:0:3:7,3:218,96:0.00,8.39:0.00,8.39:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:22.7,0.0:0,0:0,0:44,13:106,137:12,2:-,NM_207420.2(SLC2A7) c.1320+201delC:-,0.17:-,NOT_FOUND 1 9064939 . C . . NT END=9067368;NT GT ./. 1 9067142 rs6672506 G A 12 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8331,A/0.1669;Gene=SLC2A7/NM_207420.2/1;CC=c.1192+227C>T;VC=Intron;DM=SLC2A7/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:9:9:0:0:4,5:126,142:11.83,0.00:11.83,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:31.5,34.2:0,0:0,0:3,37:147,114:2,23:NM_207420.2(SLC2A7) c.1192+227C>T,-:0.17,-:NOT_FOUND,- 1 9067445 . C . . NT END=9070201;NT GT ./. 1 9070304 . C . . NT END=9073583;NT GT ./. 1 9073695 . C . . NT END=9074739;NT GT ./. 1 9074928 . C . . NT END=9075175;NT GT ./. 1 9075302 . C . . NT END=9078281;NT GT ./. 1 9078435 . C . . NT END=9079267;NT GT ./. 1 9079393 . C . . NT END=9082976;NT GT ./. 1 9082739 rs5772344 CCACCT C 23 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CCACCT/0.1837,C/0.8163;DB;DBA=NA;PAF=CCACCT/0.1837,C/0.8163;NP=344;Gene=SLC2A7/NM_207420.2/1;CC=c.311+233_311+237delAGGTG;VC=Intron;DM=SLC2A7/Sugar_tr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:CCACCT,C:12:12:0:7:5,7:141,232:0.00,23.02:0.00,23.02:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,56:17.6,7.3:0,0:0,0:127,59:23,91:18,8:-,NM_207420.2(SLC2A7) c.311+233_311+237delAGGTG:-,0.81:-,NOT_FOUND 1 9083138 . C . . NT END=9085034;NT GT ./. 1 9083388 rs809966 C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1849,T/0.8151;Gene=SLC2A7/NM_207420.2/1;CC=c.151-251G>A;VC=Intron;DM=SLC2A7/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,T:6:0:0:0:3,3:75,83:0.00,7.92:0.00,0.00:0.00,7.92:0.00,0.73:0.00,0.00:0.00,0.73:60,60:16.3,52.0:0,0:0,0:104,94:46,57:6,7:-,NM_207420.2(SLC2A7) c.151-251G>A:-,0.81:-,NOT_FOUND 1 9084924 rs2027222 T C 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.1829,C/0.8171;Gene=SLC2A7/NM_207420.2/1;CC=c.150+111A>G;VC=Intron;DM=SLC2A7/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:10,13:323,376:30.22,0.00:30.22,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.9,16.4:0,0:0,0:38,59:112,92:29,35:NM_207420.2(SLC2A7) c.150+111A>G,-:0.82,-:NOT_FOUND,- 1 9085006 rs60746313 G GGCCCACCTTGT 37 sb,nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.7889,GGCCCACCTTGT/0.2111,GGCCCACCTTGTGCCCACCTTGT/.,GGCCCACCTTGTGCCCACCTTGTGCCCACCTTGT/.,GGCCCCCCTTGT/.;DB;DBA=NA;PAF=NA;Gene=SLC2A7/NM_207420.2/1;CC=c.150+28_150+29insACAAGGTGGGC;VC=Intron;DM=SLC2A7/Sugar_tr;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GGCCCACCTTGT:49:46:14:0:34,1,14:1007,11,433:0.00,-0.07,37.41:0.00,0.01,36.24:0.00,-0.09,1.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:19.6,160.0,7.1:1,0,0:0,0,0:53,55,41:96,95,109:36,0,20:-,NM_207420.2(SLC2A7) c.150+28_150+29insACAAGGTGGGC:-,NOT_FOUND:-,NOT_FOUND 1 9085134 . C . . NT END=9086353;NT GT ./. 1 9085279 rs12072306 C T 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8303,T/0.1697;Gene=SLC2A7/NM_207420.2/1;CC=c.52-146G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:21:0:0:0:7,14:205,440:0.00,44.84:0.00,0.00:0.00,44.84:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,35.5:0,0:0,0:87,95:63,56:30,16:-,NM_207420.2(SLC2A7) c.52-146G>A:-,0.16:-,NOT_FOUND 1 9086405 . C . . NT END=9097644;NT GT ./. 1 9097849 . C . . NT END=9097955;NT GT ./. 1 9098084 . C . . NT END=9098489;NT GT ./. 1 9098566 . C . . NT END=9098886;NT GT ./. 1 9098989 . C . . NT END=9099610;NT GT ./. 1 9099722 . C . . NT END=9099858;NT GT ./. 1 9099912 rs139477702 G A 274 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=186;DB;DBA=NA;PAF=NA;NP=11;PC=1.000;Gene=SLC2A5/NM_003039.2/1;CC=c.832C>T;ProtCh=p.L278=;VC=Silent;DM=SLC2A5/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:186:140:0:0:91,95:2865,3222:273.88,0.00:180.77,0.00:93.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,9.3:0,0:0,0:56,63:93,87:36,35:NM_003039.2(SLC2A5) c.832C>T (p.(=)),-:NOT_FOUND,-:0.001693,- 1 9100047 . C . . NT END=9100122;NT GT ./. 1 9100249 . C . . NT END=9101426;NT GT ./. 1 9101997 . C . . NT END=9107668;NT GT ./. 1 9107794 . C . . NT END=9117506;NT GT ./. 1 9107849 rs3737661 G T 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=SLC2A5/NM_003039.2/1;CC=c.294-56C>A;VC=Intron;Gene=SLC2A5/NM_001135585.1/0;CC=c.294-56C>A;VC=Intron;DM=SLC2A5/Sugar_tr;DM=SLC2A5/Sugar_tr;DM=SLC2A5/Sugar_tr;DM=SLC2A5/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:51:23:0:0:27,24:939,756:0.00,71.72:0.00,19.34:0.00,52.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,36.5:0,0:0,0:112,103:36,47:26,28:-,NM_003039.2(SLC2A5) c.294-56C>A:-,0.12:-,NOT_FOUND 1 9117351 . T TA 8 rn VT=INS;SST=Single;DP=12;Gene=SLC2A5/NM_003039.2/1;CC=c.293+155_293+156insT;VC=Intron;Gene=SLC2A5/NM_001135585.1/0;CC=c.293+155_293+156insT;VC=Intron;DM=SLC2A5/Sugar_tr;DM=SLC2A5/Sugar_tr;DM=SLC2A5/Sugar_tr;DM=SLC2A5/Sugar_tr;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:T,TA,D:11:12:4:1:7,3,1:223,124,33:0.00,8.05,2.43:0.00,8.05,2.43:0.00,0.00,0.00:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.00,0.00:60,60,60:17.3,115.0,0.0:0,1,0:0,0,0:110,19,49:40,131,100:29,13,0:-,NM_003039.2(SLC2A5) c.293+155_293+156insT:-,NOT_FOUND:-,NOT_FOUND 1 9117668 . C . . NT END=9118210;NT GT ./. 1 9118310 . C . . NT END=9129562;NT GT ./. 1 9129596 . G . . NT END=9164477;NT GT ./. 1 9164694 . C . . NT END=9165544;NT GT ./. 1 9165062 rs57717142 A AC 8 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=104;NP=9;Gene=GPR157/NM_024980.4/1;CC=c.793-370dupG;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,AC:4:2:3:0:1,3:10,77:0.00,8.19:0.00,3.72:0.00,4.47:0.00,0.85:0.00,0.95:0.00,0.99:60,60:7.0,71.0:0,0:0,0:137,114:14,37:0,16:-,NM_024980.4(GPR157) c.793-370_793-369insG:-,NOT_FOUND:-,NOT_FOUND 1 9165740 . C . . NT END=9171334;NT GT ./. 1 9165868 rs1705303 A G 64 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1266;Gene=GPR157/NM_024980.4/1;CC=c.598-129T>C;VC=Intron;DM=GPR157/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:1:0:0:17:557:63.81:1.89:61.92:1.00:1.00:1.00:60:47.8:0:0:115:36:23:NM_024980.4(GPR157) c.598-129T>C,NM_024980.4(GPR157) c.598-129T>C:1,1:NOT_FOUND,NOT_FOUND 1 9171549 . C . . NT END=9188703;NT GT ./. 1 9174015 . AAC A 10 rn VT=DEL;SST=Single;DP=4;NP=12;PC=0.002;Gene=GPR157/NM_024980.4/1;CC=c.384-2469_384-2468delGT;VC=Intron;DM=GPR157/7tm_2;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:4:3:118:9.55:7.73:1.83:0.85:0.85:0.83:60:16.3:1:0:32:100:15:NM_024980.4(GPR157) c.384-2469_384-2468delGT,NM_024980.4(GPR157) c.384-2469_384-2468delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 9189154 . C . . NT END=9300054;NT GT ./. 1 9189352 rs113325775 C T 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:C,T:17:0:0:0:3,14:63,399:0.00,43.17:0.00,0.00:0.00,43.17:0.00,1.00:0.00,0.00:0.00,1.00:60,60:192.0,107.0:0,0:0,0:75,113:71,31:11,26:-,NM_024980.4(GPR157) c.-143-u123G>A:-,0.25:-,NOT_FOUND 1 9189357 rs191756025 A C 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,C:15:0:0:0:1,14:31,383:0.00,43.15:0.00,0.00:0.00,43.15:0.00,1.00:0.00,0.00:0.00,1.00:60,60:213.0,128.1:0,0:0,0:80,97:66,33:0,21:NM_024980.4(GPR157) c.-143-u128T>G,NM_024980.4(GPR157) c.-143-u128T>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 9189364 rs184343656 T C 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:C,T:12:0:0:0:10,2:303,53:32.70,0.00:0.00,0.00:32.70,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:141.6,195.0:0,0:0,0:101,71:29,67:16,15:NM_024980.4(GPR157) c.-143-u135A>G,-:0.25,-:NOT_FOUND,- 1 9189376 rs188702962 A G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G:12:0:0:0:3,9:69,274:0.00,28.81:0.00,0.00:0.00,28.81:0.00,1.00:0.00,0.00:0.00,1.00:60,60:170.7,146.6:0,0:0,0:68,114:64,20:31,16:-,NM_024980.4(GPR157) c.-143-u147T>C:-,0.2:-,NOT_FOUND 1 9263597 rs533192899 AGT A,AGTGTGTGTGTGT 8 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AGT/0.5649,A/0.4351;DB;DBA=NA;PAF=AGT/0.5649,A/0.4351;NP=154;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:33:AGT,AGTGTGTGTGTGT,A:6:6:3:3:1,2,3:33,86,82:0.00,6.02,8.28:0.00,2.99,5.72:0.00,3.03,2.56:0.00,0.00,0.69:0.00,0.00,0.95:0.00,0.00,0.83:60,60,60:36.0,29.0,0.0:0,1,0:0,0,0:91,44,25:60,107,46:0,8,10:chr1 g.9263598_9263599delGT (intergenic),chr1 g.9263598GT[6] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 9299947 rs2268176 T G 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7788,G/0.2212;Gene=H6PD/NM_004285.3/1;CC=c.-11+4822T>G;VC=Intron;Gene=H6PD/NM_001282587.1/0;CC=c.-108T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:17:0:0:8,11:258,384:24.00,0.00:14.24,0.00:9.76,0.00:0.99,0.00:1.00,0.00:0.99,0.00:60,60:39.0,1.5:0,0:0,0:23,44:125,107:7,23:NM_004285.3(H6PD) c.-11+4822T>G,-:0.25,-:NOT_FOUND,- 1 9300078 . G . . NT END=9302631;NT GT ./. 1 9302405 rs546968313 T TAA 11 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7766,TAA/0.2234;DB;DBA=NA;PAF=T/0.7766,TAA/0.2234,TAAA/.;NP=1;NP=108;NP=3;Gene=H6PD/NM_004285.3/1;CC=c.-10-2569_-10-2568dupAA;VC=Intron;Gene=H6PD/NM_001282587.1/0;CC=c.23+2338_23+2339dupAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:T,TAA,D:10:11:5:1:5,4,1:164,149,34:0.00,10.87,2.63:0.00,10.87,2.63:0.00,0.00,0.00:0.00,0.82,0.00:0.00,0.82,0.00:0.00,0.00,0.00:60,60,60:5.8,37.2,0.0:0,1,0:0,0,0:52,26,62:98,124,89:33,20,0:-,NM_004285.3(H6PD) c.-10-2579_-10-2578insAA:-,NOT_FOUND:-,NOT_FOUND 1 9302942 rs56108736 G C 221 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.7732,C/0.2268,T/.;Gene=H6PD/NM_004285.3/1;CC=c.-10-2042G>C;VC=Intron;Gene=H6PD/NM_001282587.1/0;CC=c.24-2042G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:132:82:0:0:1,71,59,1:9,2257,1849,17:-0.14,220.71,0.00,0.13:-0.09,114.37,0.00,-0.09:-0.05,106.34,0.00,0.23:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:33.0,39.6,5.5,63.0:0,0,0,0:0,0,0,0:34,62,71,66:89,89,78,52:0,32,36,0:NM_004285.3(H6PD) c.-10-2042G>C,-:0.26,-:NOT_FOUND,- 1 9303034 . T . . NT END=9304983;NT GT ./. 1 9305445 rs34603401 A C 165 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=A/0.9239,C/0.07608;PC=1.000;Gene=H6PD/NM_004285.3/1;CC=c.452A>C;ProtCh=p.D151A;VC=Missense;Gene=H6PD/NM_001282587.1/0;CC=c.485A>C;ProtCh=p.D162A;VC=Missense;DM=H6PD/G6PD_N;DM=H6PD/G6PD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:128:82:0:0:74,54:2374,1771:0.00,165.00:0.00,73.65:0.00,91.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,39.3:0,0:0,0:89,96:56,51:39,34:-,NM_004285.3(H6PD) c.452A>C (p.Asp151Ala):-,0.08:-,0.109719 1 9305622 . T . . NT END=9307024;NT GT ./. 1 9306849 rs2310925 T C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4942,C/0.5058;Gene=H6PD/NM_004285.3/1;CC=c.628-176T>C;VC=Intron;Gene=H6PD/NM_001282587.1/0;CC=c.661-176T>C;VC=Intron;DM=H6PD/G6PD_N;DM=H6PD/G6PD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:7:7:0:0:3,4:93,132:8.65,0.00:8.65,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:34.7,0.0:0,0:0,0:51,52:97,97:31,14:NM_004285.3(H6PD) c.628-176T>C,-:0.51,-:NOT_FOUND,- 1 9307033 rs7524046 G A 72 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.7774,A/0.2226;PC=0.291;Gene=H6PD/NM_004285.3/1;CC=c.636G>A;ProtCh=p.A212=;VC=Silent;Gene=H6PD/NM_001282587.1/0;CC=c.669G>A;ProtCh=p.A223=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:51:0:0:24,36:778,1144:71.75,0.00:43.88,0.00:27.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,9.4:0,0:0,0:55,42:87,101:15,21:NM_004285.3(H6PD) c.636G>A (p.(=)),-:0.25,-:0.211595,- 1 9307138 rs11121350 T C 58 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.7242,C/0.2758;Gene=H6PD/NM_004285.3/1;CC=c.741T>C;ProtCh=p.A247=;VC=Silent;Gene=H6PD/NM_001282587.1/0;CC=c.774T>C;ProtCh=p.A258=;VC=Silent;DM=H6PD/G6PD_C;DM=H6PD/G6PD_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:47:23:0:0:21,1,25:623,11,821:58.39,0.00,0.00:20.02,-0.07,0.00:38.37,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.2,83.0,7.7:0,0,0:0,0,0:96,79,113:55,72,37:26,0,23:NM_004285.3(H6PD) c.741T>C (p.(=)),-:0.3,-:0.261033,- 1 9307144 . T . . NT END=9322117;NT GT ./. 1 9307230 rs12032814 T A 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7492,A/0.2508;Gene=H6PD/NM_004285.3/1;CC=c.745+88T>A;VC=Intron;Gene=H6PD/NM_001282587.1/0;CC=c.778+88T>A;VC=Intron;DM=H6PD/G6PD_C;DM=H6PD/G6PD_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:21:0:0:0:12,9:384,294:37.89,0.00:0.00,0.00:37.89,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.6,21.4:0,0:0,0:108,88:43,63:24,28:NM_004285.3(H6PD) c.745+88T>A,-:0.28,-:NOT_FOUND,- 1 9307308 rs56110957 T TG 30 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1222;PC=0.015;Gene=H6PD/NM_004285.3/1;CC=c.745+167dupG;VC=Intron;Gene=H6PD/NM_001282587.1/0;CC=c.778+167dupG;VC=Intron;DM=H6PD/G6PD_C;DM=H6PD/G6PD_C;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:TG:8:0:8:0:8:257:29.51:0.00:29.51:1.00:0.00:1.00:60:23.6:0:0:117:33:9:NM_004285.3(H6PD) c.745+166_745+167insG,NM_004285.3(H6PD) c.745+166_745+167insG:1,1:NOT_FOUND,NOT_FOUND 1 9322389 . T . . NT END=9323567;NT GT ./. 1 9323463 rs141143158 C CTGAGGCAG 42 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.859,CTGAGGCAG/0.141;Gene=H6PD/NM_004285.3/1;CC=c.1016-104_1016-97dupTGAGGCAG;VC=Intron;Gene=H6PD/NM_001282587.1/0;CC=c.1049-104_1049-97dupTGAGGCAG;VC=Intron;DM=H6PD/G6PD_C;DM=H6PD/G6PD_C;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTGAGGCAG:31:30:14:0:17,14:494,446:0.00,42.03:0.00,39.40:0.00,2.63:0.00,1.00:0.00,1.00:0.00,0.96:60,60:19.6,3.4:0,0:0,0:33,54:117,96:16,24:-,NM_004285.3(H6PD) c.1016-105_1016-104insTGAGGCAG:-,0.09:-,NOT_FOUND 1 9324571 rs9434742 T C 248 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=166;DB;DBA=NA;PAF=T/0.597,C/0.403;Gene=H6PD/NM_004285.3/1;CC=c.2019T>C;ProtCh=p.Y673=;VC=Silent;Gene=H6PD/NM_001282587.1/0;CC=c.2052T>C;ProtCh=p.Y684=;VC=Silent;DM=H6PD/Glucosamine_iso;DM=H6PD/Glucosamine_iso GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:166:111:0:0:80,86:2600,2821:248.21,0.00:131.04,0.00:117.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.6,6.7:0,0:0,0:76,56:70,90:38,28:NM_004285.3(H6PD) c.2019T>C (p.(=)),-:0.36,-:0.427473,- 1 9324670 rs9434743 A G 260 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=180;DB;DBA=NA;PAF=A/0.5978,G/0.4022;Gene=H6PD/NM_004285.3/1;CC=c.2118A>G;ProtCh=p.S706=;VC=Silent;Gene=H6PD/NM_001282587.1/0;CC=c.2151A>G;ProtCh=p.S717=;VC=Silent;DM=H6PD/Glucosamine_iso;DM=H6PD/Glucosamine_iso GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:180:132:0:0:94,86:2943,2732:0.00,260.09:0.00,143.63:0.00,116.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,49.4:0,0:0,0:74,73:73,74:42,32:-,NM_004285.3(H6PD) c.2118A>G (p.(=)):-,0.35:-,0.42387 1 9324930 . G . . NT END=9335201;NT GT ./. 1 9334996 rs12064223 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.646,T/0.354;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T:11:11:0:0:5,6:125,146:0.00,14.13:0.00,14.13:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:56.4,108.3:0,0:0,0:32,40:119,111:31,21:-,chr1 g.9334995C>T (intergenic):-,0.31:-,NOT_FOUND 1 9335053 rs61783462 T C 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6454,C/0.3546 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:10,8:320,202:31.42,0.00:31.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:122.1,36.9:0,0:0,0:53,68:98,83:30,36:chr1 g.9335052T>C (intergenic),-:0.31,-:NOT_FOUND,- 1 9335054 rs72641829 G T 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6456,T/0.3544 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:18:18:0:0:1,7,10:12,214,320:0.36,0.00,31.73:0.36,0.00,31.73:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:112.0,26.1,122.1:0,0,0:0,0,0:79,59,54:72,92,97:0,39,30:-,chr1 g.9335053G>T (intergenic):-,0.31:-,NOT_FOUND 1 9335124 rs61783463 A G 78 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.6434,G/0.3566;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:42:0:0:23,25:713,803:0.00,77.82:0.00,52.89:0.00,24.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.8,80.2:0,0:0,0:32,29:119,122:17,14:-,chr1 g.9335123A>G (intergenic):-,0.32:-,NOT_FOUND 1 9335160 rs9434753 C T 85 nt VT=SNV;PN=A;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.6436,T/0.3564 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:53:0:0:35,28:1149,904:0.00,84.98:0.00,45.43:0.00,39.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,68.8:0,0:0,0:40,58:105,86:23,18:-,chr1 g.9335159C>T (intergenic):-,0.32:-,NOT_FOUND 1 9335245 . G . . NT END=9352940;NT GT ./. 1 9335339 rs61783464 C T 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.654,T/0.346 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:7:0:0:18,13:546,415:0.00,38.55:0.00,7.63:0.00,30.92:0.00,1.00:0.00,0.97:0.00,1.00:60,60:11.8,49.2:0,0:0,0:116,80:33,69:20,41:-,chr1 g.9335338C>T (intergenic):-,0.31:-,NOT_FOUND 1 9352704 rs114709597 C G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8702,G/0.1298 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,G:17:17:0:0:10,7:317,184:0.00,16.73:0.00,16.73:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:16.0,87.4:0,0:0,0:35,63:114,88:26,29:-,NM_025106.3(SPSB1) c.-339-u237C>G:-,0.12:-,NOT_FOUND 1 9352783 rs143183883 ACGCGCCC A 22 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=ACGCGCCC/0.8532,A/0.1468;NP=127;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACGCGCCC,G,A:35:36:0:11:25,1,9:774,7,294:0.00,-0.19,22.16:0.00,-0.19,22.22:0.00,-0.01,-0.06:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.50:60,60,60:23.7,146.0,19.9:0,0,1:0,0,0:35,57,21:116,94,118:22,0,4:-,NM_025106.3(SPSB1) c.-339-u157_-339-u151delCGCGCCC:-,NOT_FOUND:-,NOT_FOUND 1 9352855 rs563626496 GGGGGC G 57 nt VT=DEL;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=40;PC=0.002;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGGGC,T,G:64:57:0:23:39,3,22:1123,38,638:0.00,0.80,57.00:0.00,1.02,48.87:0.00,-0.22,8.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.4,53.0,15.0:0,0,0:0,0,0:59,107,36:92,44,103:30,23,20:-,NM_025106.3(SPSB1) c.-339-u85_-339-u81delGGGGC:-,NOT_FOUND:-,NOT_FOUND 1 9353015 rs375287923 CGCCGGG C 442 lc VT=DEL;SST=Single;DP=174;DB;DBA=NA;PAF=CGCCGGG/0.000599,C/0.9994;NP=273;PC=0.998;Gene=SPSB1/NM_025106.3/1;CC=c.-254_-249delGGGCCG;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CGCCGGG,G,C:174:131:0:141:1,31,1,141:14,933,11,4104:0.07,0.00,-0.00,442.20:-0.05,0.00,-0.05,262.56:0.12,0.00,0.05,179.64:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:163.0,32.2,72.0,18.0:0,2,1,0:0,0,0,0:0,131,42,73:151,12,107,73:0,13,0,29:-,NM_025106.3(SPSB1) c.-260GGGCCG[1]:-,NOT_FOUND:-,NOT_FOUND 1 9353021 . G C 54 idl;end,lc VT=SNV;PN=G;NN=G;SST=Single;DP=29;PC=0.998;Gene=SPSB1/NM_025106.3/1;CC=c.-259G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:29:20:0:148:1,17,10,1:18,541,280,11:0.71,54.47,0.00,0.18:-0.07,43.59,0.00,-0.07:0.78,10.88,0.00,0.25:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:18.0,63.1,21.1,72.0:1,0,1,1:0,0,0,0:130,8,140,48:21,143,5,101:0,2,3,0:NM_025106.3(SPSB1) c.-259G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 9353122 rs4908833 C G 323 lc VT=SNV;PN=C;NN=C;SST=Single;DP=217;DB;DBA=NA;PAF=C/0.6987,G/0.3013;PC=0.005;Gene=SPSB1/NM_025106.3/1;CC=c.-158C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:217:140:0:0:113,104:3521,3389:0.00,323.17:0.00,144.66:0.00,178.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.8,83.9:0,0:0,0:86,63:62,80:35,37:-,NM_025106.3(SPSB1) c.-158C>G:-,0.19:-,NOT_FOUND 1 9353131 . g . . NT END=9399305;NT GT ./. 1 9353164 rs4908834 G T 252 nt VT=SNV;PN=G;NN=T;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.6238,T/0.3762;PC=0.004;Gene=SPSB1/NM_025106.3/1;CC=c.-150+34G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:196:120:0:0:105,91:3314,2677:0.00,252.19:0.00,102.80:0.00,149.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.7,90.5:0,0:0,0:71,74:69,73:39,28:-,NM_025106.3(SPSB1) c.-150+34G>T:-,0.14:-,NOT_FOUND 1 9353184 rs187506632 G A 257 nt VT=SNV;PN=G;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=G/0.8494,A/0.1506;PC=0.001;Gene=SPSB1/NM_025106.3/1;CC=c.-150+54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:171:98:0:0:85,86:2678,2690:256.83,0.00:88.26,0.00:168.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.9,90.3:0,0:0,0:73,88:69,54:24,28:NM_025106.3(SPSB1) c.-150+54G>A,-:0.08,-:NOT_FOUND,- 1 9353207 rs191838451 A G 547 nt VT=SNV;PN=G;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=NA;Gene=SPSB1/NM_025106.3/1;CC=c.-150+77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:149:73:0:0:149:4756:546.53:179.48:367.04:1.00:1.00:1.00:60:88.0:1:0:93:52:21:NM_025106.3(SPSB1) c.-150+77A>G,NM_025106.3(SPSB1) c.-150+77A>G:0.22,0.22:NOT_FOUND,NOT_FOUND 1 9353272 rs183711646 G C 105 nt VT=SNV;PN=A;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.8586,C/0.1414;PC=0.026;Gene=SPSB1/NM_025106.3/1;CC=c.-150+142G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:71:21:0:0:37,34:1092,1128:105.41,0.00:24.59,0.00:80.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:88.2,66.9:0,0:0,0:111,123:30,25:28,18:NM_025106.3(SPSB1) c.-150+142G>C,-:0.17,-:NOT_FOUND,- 1 9399131 rs9442510 G A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9778,A/0.02216;PC=0.995;Gene=SPSB1/NM_025106.3/1;CC=c.-149-16671G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:244,188:23.76,0.00:23.76,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:59.4,33.0:0,0:0,0:90,52:60,99:22,15:NM_025106.3(SPSB1) c.-149-16671G>A,-:0.04,-:NOT_FOUND,- 1 9399195 rs12742286 G A 90 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5669,A/0.4331;Gene=SPSB1/NM_025106.3/1;CC=c.-149-16607G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:21:0:0:23:795:90.47:72.32:18.15:1.00:1.00:1.00:60:53.1:0:0:31:120:17:NM_025106.3(SPSB1) c.-149-16607G>A,NM_025106.3(SPSB1) c.-149-16607G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 9399326 . G . . NT END=9415801;NT GT ./. 1 9416645 . G . . NT END=9427506;NT GT ./. 1 9427635 . C . . NT END=9599750;NT GT ./. 1 9427842 rs2275458 A G 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6466,G/0.3534;Gene=SPSB1/NM_025106.3/1;CC=c.*208A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:261:29.92:0.00:29.92:1.00:0.00:1.00:60:53.6:0:0:94:57:15:NM_025106.3(SPSB1) c.*208A>G,NM_025106.3(SPSB1) c.*208A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 1 9427869 rs2275457 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3512,A/0.6488;Gene=SPSB1/NM_025106.3/1;CC=c.*235G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:62.3:0:0:110:40:8:NM_025106.3(SPSB1) c.*235G>A,NM_025106.3(SPSB1) c.*235G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 9599648 rs112358601 C T 85 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.7005,T/0.2995;PC=0.952;Gene=SLC25A33/NM_032315.2/1;CC=c.-103C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:60:60:0:0:1,29,1,29:14,934,5,883:0.13,0.00,-0.18,84.57:0.18,0.00,-0.13,70.11:-0.05,0.00,-0.05,14.46:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:54,60,58,60:141.0,12.3,5.0,39.7:0,0,0,0:0,0,0,0:35,49,70,37:116,102,81,114:0,19,0,19:-,NM_032315.2(SLC25A33) c.-103C>T:-,0.3:-,NOT_FOUND 1 9599807 . G . . NT END=9613683;NT GT ./. 1 9599823 rs148840119 A G 133 nt VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.7013,G/0.2987;Gene=SLC25A33/NM_032315.2/1;CC=c.56+17A>G;VC=Intron;DM=SLC25A33/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:105:70:0:0:58,47:1922,1415:0.00,132.52:0.00,52.00:0.00,80.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,36.9:0,0:0,0:68,97:64,52:27,25:-,NM_032315.2(SLC25A33) c.56+17A>G:-,0.28:-,NOT_FOUND 1 9613518 rs6540945 G C 65 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.4399,C/0.5601;Gene=SLC25A33/NM_032315.2/1;CC=c.57-166G>C;VC=Intron;DM=SLC25A33/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:39:39:0:0:1,20,17,1:7,661,532,9:-0.08,64.55,0.00,-0.01:-0.08,64.55,0.00,-0.01:0.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.00,0.00,0.00:60,60,60,60:101.0,39.4,14.5,71.0:0,0,0,0:0,0,0,0:44,67,51,116:106,84,100,34:0,30,8,0:NM_032315.2(SLC25A33) c.57-166G>C,-:0.54,-:NOT_FOUND,- 1 9613864 . G . . NT END=9616239;NT GT ./. 1 9616316 . G . . NT END=9627341;NT GT ./. 1 9627103 rs12124860 G A 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4371,A/0.5629;PC=0.001;Gene=SLC25A33/NM_032315.2/1;CC=c.237-239G>A;VC=Intron;DM=SLC25A33/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:9:8:0:0:6,3:202,99:20.57,0.00:21.05,0.00:-0.48,0.00:0.99,0.00:1.00,0.00:0.78,0.00:60,60:35.3,46.7:0,0:0,0:25,19:124,132:19,2:NM_032315.2(SLC25A33) c.237-239G>A,-:0.55,-:NOT_FOUND,- 1 9627420 . G . . NT END=9630315;NT GT ./. 1 9627521 rs6698575 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7218,G/0.2782;Gene=SLC25A33/NM_032315.2/1;CC=c.314+102A>G;VC=Intron;DM=SLC25A33/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,G:16:0:0:0:11,5:348,168:0.00,14.87:0.00,0.00:0.00,14.87:0.00,0.88:0.00,0.00:0.00,0.88:60,60:0.8,42.2:0,0:0,0:130,108:21,43:16,30:-,NM_032315.2(SLC25A33) c.314+102A>G:-,0.27:-,NOT_FOUND 1 9630417 . G . . NT END=9633403;NT GT ./. 1 9633471 . G . . NT END=9640011;NT GT ./. 1 9633723 rs6540953 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.006789,G/0.9932;Gene=SLC25A33/NM_032315.2/1;CC=c.482+253A>G;VC=Intron;DM=SLC25A33/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:118:13.70:0.00:13.70:1.00:0.00:1.00:60:46.8:0:0:116:34:10:NM_032315.2(SLC25A33) c.482+253A>G,NM_032315.2(SLC25A33) c.482+253A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 9637227 rs9430153 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6346,G/0.3654;Gene=SLC25A33/NM_032315.2/1;CC=c.483-2785A>G;VC=Intron;DM=SLC25A33/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,G:8:0:0:0:4,4:118,132:0.00,12.70:0.00,0.00:0.00,12.70:0.00,0.87:0.00,0.00:0.00,0.87:60,60:4.2,35.8:0,0:0,0:55,111:96,39:46,11:-,NM_032315.2(SLC25A33) c.483-2785A>G:-,0.35:-,NOT_FOUND 1 9640293 . G . . NT END=9642356;NT GT ./. 1 9642329 rs56026893 C T 136 nt VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.8279,T/0.1721;Gene=SLC25A33/NM_032315.2/1;CC=c.764-28C>T;VC=Intron;DM=SLC25A33/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:62:0:0:29,43:948,1363:0.00,135.76:0.00,107.56:0.00,28.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,37.3:0,0:0,0:42,37:91,108:25,16:-,NM_032315.2(SLC25A33) c.764-28C>T:-,0.18:-,0.145164 1 9642560 . C . . NT END=9648988;NT GT ./. 1 9649102 . G . . NT END=9655947;NT GT ./. 1 9655795 rs4073710 G A 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.8556,A/0.1444;Gene=TMEM201/NM_001010866.3/0;CC=c.114-153G>A;VC=Intron;Gene=TMEM201/NM_001130924.2/1;CC=c.114-153G>A;VC=Intron;DM=TMEM201/Ima1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:36:0:0:22,14:674,492:67.44,0.00:66.26,0.00:1.18,0.00:1.00,0.00:1.00,0.00:0.74,0.00:60,60:48.5,2.9:0,0:0,0:52,41:98,109:36,17:NM_001130924.2(TMEM201) c.114-153G>A,-:0.15,-:NOT_FOUND,- 1 9656069 . G . . NT END=9656916;NT GT ./. 1 9657112 . G . . NT END=9658506;NT GT ./. 1 9658465 rs9430181 T G 207 nt VT=SNV;PN=A;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.2262,G/0.7738;Gene=TMEM201/NM_001010866.3/0;CC=c.430-42T>G;VC=Intron;Gene=TMEM201/NM_001130924.2/1;CC=c.430-42T>G;VC=Intron;DM=TMEM201/Ima1_N;DM=TMEM201/DUF2448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:125:107:0:0:64,61:2141,1941:206.99,0.00:124.36,0.00:82.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,9.5:0,0:0,0:48,51:97,93:31,29:NM_001130924.2(TMEM201) c.430-42T>G,-:0.78,-:0.790866,- 1 9658684 . G . . NT END=9661162;NT GT ./. 1 9658707 rs9430182 G A 140 nt VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.2536,A/0.7464,T/.;Gene=TMEM201/NM_001010866.3/0;CC=c.606+24G>A;VC=Intron;Gene=TMEM201/NM_001130924.2/1;CC=c.606+24G>A;VC=Intron;DM=TMEM201/DUF2448;DM=TMEM201/DUF2448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:96:48:0:0:43,53:1480,1593:139.86,0.00:43.05,0.00:96.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.3,12.5:0,0:0,0:100,102:49,48:26,33:NM_001130924.2(TMEM201) c.606+24G>A,-:0.75,-:0.788699,- 1 9658809 rs9430183 A G 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.2316,G/0.7684;PC=0.441;Gene=TMEM201/NM_001010866.3/0;CC=c.606+126A>G;VC=Intron;Gene=TMEM201/NM_001130924.2/1;CC=c.606+126A>G;VC=Intron;DM=TMEM201/DUF2448;DM=TMEM201/DUF2448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:31:0:0:0:15,1,15:444,12,478:0.00,0.17,45.93:0.00,0.00,0.00:0.00,0.17,45.93:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:16.5,33.0,63.1:0,0,0:0,0,0:99,28,105:52,108,46:31,0,33:-,NM_001130924.2(TMEM201) c.606+126A>G:-,0.78:-,NOT_FOUND 1 9661061 rs9430184 A G 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.2308,G/0.7692;Gene=TMEM201/NM_001010866.3/0;CC=c.607-102A>G;VC=Intron;Gene=TMEM201/NM_001130924.2/1;CC=c.607-102A>G;VC=Intron;DM=TMEM201/DUF2448;DM=TMEM201/DUF2448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:31:0:0:15,17:503,535:0.00,52.00:0.00,50.57:0.00,1.42:0.00,1.00:0.00,1.00:0.00,0.82:60,60:11.6,42.5:0,0:0,0:53,76:98,75:37,31:-,NM_001130924.2(TMEM201) c.607-102A>G:-,0.78:-,NOT_FOUND 1 9661513 . G . . NT END=9662126;NT GT ./. 1 9664754 rs56394030 C A 271 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=196;DB;DBA=NA;PAF=C/0.858,A/0.142;Gene=TMEM201/NM_001010866.3/0;CC=c.*2405C>A;VC=3UTR;Gene=TMEM201/NM_001130924.2/1;CC=c.1160+2424C>A;VC=Intron;DM=TMEM201/DUF2448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:196:134:0:0:89,104,2,1:2862,3086,22,12:270.96,0.00,-0.16,-0.14:136.65,0.00,0.07,-0.03:134.31,0.00,-0.23,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:69.3,10.5,124.5,78.0:0,0,0,0:0,0,0,0:76,72,91,109:67,71,59,42:30,36,9,0:NM_001130924.2(TMEM201) c.1160+2424C>A,-:0.16,-:NOT_FOUND,- 1 9664821 rs1128650 T C 214 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=T/0.7208,C/0.2792;Gene=TMEM201/NM_001010866.3/0;CC=c.*2472T>C;VC=3UTR;Gene=TMEM201/NM_001130924.2/1;CC=c.1160+2491T>C;VC=Intron;DM=TMEM201/DUF2448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:156:98:0:0:71,85:2271,2698:214.26,0.00:109.82,0.00:104.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:93.4,6.3:0,0:0,0:95,85:56,56:36,32:NM_001130924.2(TMEM201) c.1160+2491T>C,-:0.25,-:NOT_FOUND,- 1 9664822 rs1128651 T C 200 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=T/0.721,A/.,C/0.279;Gene=TMEM201/NM_001010866.3/0;CC=c.*2473T>C;VC=3UTR;Gene=TMEM201/NM_001130924.2/1;CC=c.1160+2492T>C;VC=Intron;DM=TMEM201/DUF2448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:156:98:0:0:71,85:2129,2723:199.93,0.00:98.53,0.00:101.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.0,6.1:0,0:0,0:78,85:73,57:40,33:NM_001130924.2(TMEM201) c.1160+2492T>C,-:0.25,-:NOT_FOUND,- 1 9665021 . G . . NT END=9667614;NT GT ./. 1 9667848 . G . . NT END=9669897;NT GT ./. 1 9669970 . G . . NT END=9670563;NT GT ./. 1 9670483 rs4244632 T A 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.2055,A/0.7945;Gene=TMEM201/NM_001130924.2/1;CC=c.1466-81T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:40:38:0:0:21,19:603,555:58.23,0.00:46.43,0.00:11.80,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:54.1,15.5:0,0:0,0:39,66:111,84:24,48:NM_001130924.2(TMEM201) c.1466-81T>A,-:0.8,-:NOT_FOUND,- 1 9670834 rs4926472 C T 214 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=C/0.3289,T/0.6711;Gene=TMEM201/NM_001130924.2/1;CC=c.1736C>T;ProtCh=p.P579L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:147:84:0:0:79,68:2382,2253:0.00,213.67:0.00,83.72:0.00,129.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,38.2:0,1:0,0:92,91:50,55:30,29:-,NM_001130924.2(TMEM201) c.1736C>T (p.Pro579Leu):-,0.68:-,0.730837 1 9670864 . G . . NT END=9671072;NT GT ./. 1 9671132 . G . . NT END=9671810;NT GT ./. 1 9671257 rs70979767 CT C 8 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CT/0.2137,C/0.7863;DB;DBA=NA;PAF=CT/0.2137,C/0.7863;DB;DBA=NA;PAF=CT/0.2137,C/0.7863;NP=167;PC=0.001;Gene=TMEM201/NM_001130924.2/1;CC=c.1765+409delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:CT,C:7:0:0:3:4,3:119,89:0.00,8.25:0.00,0.00:0.00,8.25:0.00,0.69:0.00,0.00:0.00,0.69:60,60:28.5,0.0:0,0:0,0:127,62:24,88:21,60:-,NM_001130924.2(TMEM201) c.1765+395delT:-,NOT_FOUND:-,NOT_FOUND 1 9671949 . G . . NT END=9673043;NT GT ./. 1 9672091 rs4073293 G A 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.3281,A/0.6719;Gene=TMEM201/NM_001130924.2/1;CC=c.1903+143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:45:1:0:0:19,1,25:556,9,772:51.58,-0.08,0.00:1.70,0.00,0.00:49.88,-0.08,0.00:1.00,0.00,0.00:0.61,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,9.0,23.6:0,0,0:0,0,0:99,71,83:52,80,68:31,0,42:NM_001130924.2(TMEM201) c.1903+143G>A,-:0.68,-:NOT_FOUND,- 1 9673142 . C . . NT END=9770513;NT GT ./. 1 9770655 . G . . NT END=9775598;NT GT ./. 1 9770690 rs34885574 C CAG 32 idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=484;PC=0.004;Gene=PIK3CD/NM_005026.3/1;CC=c.141+59_141+60insGA;VC=Intron;DM=PIK3CD/PI3K_p85B;DM=PIK3CD/PI3K_p85B;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CAG,D:67:29:15:7:48,1,12,6:1547,10,479,208:0.00,-0.16,31.52,13.19:0.00,-0.07,5.93,2.28:0.00,-0.09,25.59,10.91:0.00,0.00,1.00,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.99,0.00:60,60,60,60:18.9,77.0,50.5,15.7:0,0,3,1:0,0,0,0:104,11,74,76:33,140,77,73:35,0,9,14:-,NM_005026.3(PIK3CD) c.141+36_141+37insAG:-,NOT_FOUND:-,NOT_FOUND 1 9770714 rs72633865 C G 87 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.8624,G/0.1376;PC=0.007;Gene=PIK3CD/NM_005026.3/1;CC=c.141+60C>G;VC=Intron;DM=PIK3CD/PI3K_p85B;DM=PIK3CD/PI3K_p85B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:58:20:0:0:31,27:927,910:0.00,86.53:0.00,26.15:0.00,60.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.3,48.0:0,0:0,0:80,106:71,45:30,13:-,NM_005026.3(PIK3CD) c.141+60C>G:-,0.05:-,NOT_FOUND 1 9770865 rs11121480 C T 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7222,T/0.2778;PC=0.013;Gene=PIK3CD/NM_005026.3/1;CC=c.141+211C>T;VC=Intron;DM=PIK3CD/PI3K_p85B;DM=PIK3CD/PI3K_p85B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,T:9:0:0:0:1,8:32,218:0.00,24.20:0.00,0.00:0.00,24.20:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,42.9:0,0:0,0:123,97:28,54:0,26:-,NM_005026.3(PIK3CD) c.141+211C>T:-,0.2:-,NOT_FOUND 1 9775460 rs72633866 G A 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.774,A/0.226;Gene=PIK3CD/NM_005026.3/1;CC=c.142-139G>A;VC=Intron;DM=PIK3CD/PI3K_p85B;DM=PIK3CD/PI3K_p85B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:9,8:286,277:27.79,0.00:27.79,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.4,32.0:0,0:0,0:64,73:86,78:45,40:NM_005026.3(PIK3CD) c.142-139G>A,-:0.16,-:NOT_FOUND,- 1 9775828 . G . . NT END=9775906;NT GT ./. 1 9776137 . G . . NT END=9776497;NT GT ./. 1 9776339 rs3934934 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6484,G/0.3516;Gene=PIK3CD/NM_005026.3/1;CC=c.601-159A>G;VC=Intron;DM=PIK3CD/PI3K_rbd;DM=PIK3CD/PI3K_rbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:9:0:0:7,8:218,246:0.00,23.90:0.00,8.55:0.00,15.36:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.0,41.2:0,0:0,0:61,106:89,37:32,23:-,NM_005026.3(PIK3CD) c.601-159A>G:-,0.27:-,NOT_FOUND 1 9776678 . G . . NT END=9777016;NT GT ./. 1 9777167 . G . . NT END=9777594;NT GT ./. 1 9777451 rs397979151 G GGA 11 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.8257,GGA/0.1743;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.8257,GGA/0.1743;NP=711;PC=0.007;Gene=PIK3CD/NM_005026.3/1;CC=c.931-143_931-142dupGA;VC=Intron;DM=PIK3CD/PI3K_C2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:G,GGA:14:11:4:0:10,4:325,125:0.00,10.77:0.00,8.23:0.00,2.54:0.00,0.77:0.00,0.95:0.00,0.66:60,60:13.6,6.0:1,0:0,0:73,78:76,72:43,61:-,NM_005026.3(PIK3CD) c.931-144_931-143insGA:-,0.22:-,NOT_FOUND 1 9777685 . G . . NT END=9778751;NT GT ./. 1 9778974 . G . . NT END=9779978;NT GT ./. 1 9779871 rs9430220 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5268,C/0.4732;Gene=PIK3CD/NM_005026.3/1;CC=c.1243-108T>C;VC=Intron;DM=PIK3CD/PI3K_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:19:19:0:0:8,1,10:251,10,270:23.56,0.14,0.00:23.56,0.14,0.00:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:60,60,60:54.2,60.0,22.9:0,0,0:0,0,0:101,60,44:50,56,105:35,0,20:NM_005026.3(PIK3CD) c.1243-108T>C,-:0.4,-:NOT_FOUND,- 1 9780076 . G . . NT END=9780169;NT GT ./. 1 9780301 . G . . NT END=9780491;NT GT ./. 1 9780720 . G . . NT END=9780799;NT GT ./. 1 9780968 . G . . NT END=9781184;NT GT ./. 1 9781307 . G . . NT END=9781501;NT GT ./. 1 9781412 rs12735071 C G 158 nt VT=SNV;PN=C;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.8217,G/0.1783;PC=0.011;Gene=PIK3CD/NM_005026.3/1;CC=c.1812-90C>G;VC=Intron;DM=PIK3CD/PI3Ka;DM=PIK3CD/PI3Ka GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:93:58:0:0:40,53:1288,1605:0.00,157.97:0.00,66.03:0.00,91.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,41.7:0,0:0,0:76,86:69,63:33,43:-,NM_005026.3(PIK3CD) c.1812-90C>G:-,0.23:-,NOT_FOUND 1 9781646 . G . . NT END=9781818;NT GT ./. 1 9781919 . G . . NT END=9782032;NT GT ./. 1 9782212 . G . . NT END=9782301;NT GT ./. 1 9782415 . G . . NT END=9782585;NT GT ./. 1 9782556 rs11589267 C T 115 nt VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.8345,T/0.1655;Gene=PIK3CD/NM_005026.3/1;CC=c.2348-30C>T;VC=Intron;DM=PIK3CD/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:49:0:0:29,37:873,1172:0.00,115.26:0.00,69.51:0.00,45.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.1,41.5:0,0:0,0:61,46:90,105:26,27:-,NM_005026.3(PIK3CD) c.2348-30C>T:-,0.21:-,0.341919 1 9782665 . G . . NT END=9783182;NT GT ./. 1 9782766 rs10864435 C T 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7658,T/0.2342;Gene=PIK3CD/NM_005026.3/1;CC=c.2426+102C>T;VC=Intron;DM=PIK3CD/PI3_PI4_kinase;DM=PIK3CD/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:3:0:0:16,12:456,397:0.00,37.13:0.00,5.12:0.00,32.01:0.00,1.00:0.00,0.83:0.00,1.00:60,60:18.2,35.8:0,0:0,0:97,107:51,43:39,20:-,NM_005026.3(PIK3CD) c.2426+102C>T:-,0.17:-,NOT_FOUND 1 9783351 . G . . NT END=9784026;NT GT ./. 1 9784151 . G . . NT END=9784333;NT GT ./. 1 9784423 rs11121484 C T 126 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.6941,T/0.3059;Gene=PIK3CD/NM_005026.3/1;CC=c.2808C>T;ProtCh=p.Y936=;VC=Silent;DM=PIK3CD/PI3_PI4_kinase;DM=PIK3CD/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:92:57:0:0:50,42:1584,1334:0.00,125.84:0.00,62.24:0.00,63.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,44.4:0,0:0,0:89,80:60,69:41,31:-,NM_005026.3(PIK3CD) c.2808C>T (p.(=)):-,0.23:-,0.230509 1 9784480 . G . . NT END=9784861;NT GT ./. 1 9784995 . G . . NT END=9786966;NT GT ./. 1 9786845 rs12037599 G C 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.8011,C/0.1989;Gene=PIK3CD/NM_005026.3/1;CC=c.2998-122G>C;VC=Intron;DM=PIK3CD/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:50:47:0:0:21,29:696,979:64.84,0.00:57.25,0.00:7.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,9.6:0,0:0,0:30,43:120,108:21,29:NM_005026.3(PIK3CD) c.2998-122G>C,-:0.15,-:NOT_FOUND,- 1 9787105 . T . . NT END=9790564;NT GT ./. 1 9790659 rs148584143 C G 249 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.997,G/0.002995;NP=50;PC=0.988;Gene=CLSTN1/NM_001009566.2/1;CC=c.2853G>C;ProtCh=p.E951D;VC=Missense;Gene=CLSTN1/NM_001302883.1/0;CC=c.2796G>C;ProtCh=p.E932D;VC=Missense;Gene=CLSTN1/NM_014944.4/0;CC=c.2823G>C;ProtCh=p.E941D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:142:101:0:0:66,75,1:2208,2558,11:0.00,249.22,-0.11:0.00,130.01,-0.00:0.00,119.21,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.0,42.1,57.0:0,0,0:0,0,0:68,71,145:80,64,5:33,33,0:-,NM_001009566.1(CLSTN1) c.2853G>C (p.Glu951Asp):-,0.0037:-,0.006228 1 9790764 . C . . NT END=9791262;NT GT ./. 1 9790995 rs10779729 A G 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.2955,G/0.7045;Gene=CLSTN1/NM_001009566.2/1;CC=c.2749-232T>C;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.2692-232T>C;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.2719-232T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:9:0:0:19:551:64.13:29.37:34.76:1.00:1.00:1.00:60:45.6:0:0:69:82:43:NM_001009566.1(CLSTN1) c.2749-232T>C,NM_001009566.1(CLSTN1) c.2749-232T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 9791449 . C . . NT END=9791817;NT GT ./. 1 9791639 rs12042293 G A 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.768,A/0.232;Gene=CLSTN1/NM_001009566.2/1;CC=c.2563+180C>T;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.2506+180C>T;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.2533+180C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:17:0:0:16,16:480,485:45.98,0.00:26.37,0.00:19.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.9,10.2:0,0:0,0:58,65:93,85:44,38:NM_001009566.1(CLSTN1) c.2563+180C>T,-:0.18,-:NOT_FOUND,- 1 9791955 . C . . NT END=9793457;NT GT ./. 1 9792105 rs78478290 G GA 39 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1635;Gene=CLSTN1/NM_001009566.2/1;CC=c.2428-152_2428-151insT;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.2371-152_2371-151insT;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.2398-152_2398-151insT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,G,GA:18:0:14:0:1,4,13:34,128,403:2.51,0.00,39.15:0.00,0.00,0.00:2.51,0.00,39.15:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:58.0,18.2,26.8:1,0,1:0,0,0:30,147,78:121,3,73:0,1,38:-,NM_001009566.1(CLSTN1) c.2428-152_2428-151insT:-,NOT_FOUND:-,NOT_FOUND 1 9793452 rs41280776 T A 134 nt VT=SNV;PN=G;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.9445,A/0.05551;PC=0.006;Gene=CLSTN1/NM_001009566.2/1;CC=c.2427+7A>T;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.2370+7A>T;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.2397+7A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:105:93:0:0:46,59:1438,1844:134.46,0.00:94.94,0.00:39.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,13.0:0,0:0,0:61,51:81,100:38,29:NM_001009566.1(CLSTN1) c.2427+7A>T,-:0.04,-:0.035445,- 1 9793605 . C . . NT END=9794028;NT GT ./. 1 9794201 . C . . NT END=9795004;NT GT ./. 1 9794305 rs12568720 C T 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6929,T/0.3071;Gene=CLSTN1/NM_001009566.2/1;CC=c.2111-105G>A;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.2054-105G>A;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.2081-105G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:3:0:0:11,20:298,658:0.00,66.62:0.00,5.02:0.00,61.60:0.00,1.00:0.00,0.96:0.00,1.00:60,60:17.4,34.3:0,0:0,0:99,123:52,28:29,20:-,NM_001009566.1(CLSTN1) c.2111-105G>A:-,0.25:-,NOT_FOUND 1 9794982 rs11121485 C T 79 nt VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.7676,T/0.2324;PC=0.006;Gene=CLSTN1/NM_001009566.2/1;CC=c.2110+24G>A;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.2053+24G>A;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.2080+24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:61:0:0:36,28:1077,849:0.00,79.24:0.00,57.92:0.00,21.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,39.1:0,0:0,0:43,39:99,109:27,24:-,NM_001009566.1(CLSTN1) c.2110+24G>A:-,0.18:-,0.147701 1 9795233 . C . . NT END=9795523;NT GT ./. 1 9795250 rs11121486 G A 118 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.7674,A/0.2326;Gene=CLSTN1/NM_001009566.2/1;CC=c.1884-18C>T;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.1827-18C>T;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.1854-18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:39:0:0:37,43:1247,1369:118.37,0.00:43.56,0.00:74.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,7.8:0,0:0,0:93,93:52,53:25,26:NM_001009566.1(CLSTN1) c.1884-18C>T,-:0.18,-:0.146317,- 1 9795674 . C . . NT END=9795941;NT GT ./. 1 9795719 rs12569008 C T 134 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.6933,T/0.3067;Gene=CLSTN1/NM_001009566.2/1;CC=c.1735-46G>A;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.1678-46G>A;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.1705-46G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:79:29:0:0:36,1,42:967,7,1375:0.00,-0.15,134.20:0.00,0.01,42.13:0.00,-0.16,92.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.3,23.0,43.9:0,0,0:0,0,0:78,132,84:72,18,63:32,0,26:-,NM_001009566.1(CLSTN1) c.1735-46G>A:-,0.25:-,0.217207 1 9796101 . C . . NT END=9797555;NT GT ./. 1 9797316 rs398073775 TG T 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=561;Gene=CLSTN1/NM_001009566.2/1;CC=c.1576+239delC;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.1520-1217delC;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.1546+239delC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:0.0:0:0:58:92:15:NM_001009566.1(CLSTN1) c.1576+239delC,NM_001009566.1(CLSTN1) c.1576+239delC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 9797613 . C . . NT END=9801150;NT GT ./. 1 9801315 . C . . NT END=9803940;NT GT ./. 1 9801341 rs10864436 G A 70 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.8109,A/0.1891;Gene=CLSTN1/NM_001009566.2/1;CC=c.1357-27C>T;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.1357-27C>T;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.1327-27C>T;VC=Intron;DM=CLSTN1/Laminin_G_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:16:0:0:23,25:734,809:69.92,0.00:7.07,0.00:62.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,22.7:0,0:0,0:100,73:51,76:36,28:NM_001009566.1(CLSTN1) c.1357-27C>T,-:0.15,-:0.113794,- 1 9804064 . C . . NT END=9804451;NT GT ./. 1 9804693 rs7550295 C T 174 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.8019,T/0.1981;PC=0.002;Gene=CLSTN1/NM_001009566.2/1;CC=c.994G>A;ProtCh=p.A332T;VC=Missense;Gene=CLSTN1/NM_001302883.1/0;CC=c.994G>A;ProtCh=p.A332T;VC=Missense;Gene=CLSTN1/NM_014944.4/0;CC=c.964G>A;ProtCh=p.A322T;VC=Missense;DM=CLSTN1/Laminin_G_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:103:52:0:0:47,1,55:1517,12,1788:0.00,-0.05,174.46:0.00,-0.07,56.86:0.00,0.02,117.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.9,133.0,37.2:0,0,0:0,0,0:96,136,76:55,15,66:32,0,41:-,NM_001009566.1(CLSTN1) c.994G>A (p.Ala332Thr):-,0.15:-,0.112581 1 9804702 . C . . NT END=9809517;NT GT ./. 1 9809705 . C . . NT END=9809820;NT GT ./. 1 9809972 . C . . NT END=9811529;NT GT ./. 1 9811435 rs10779731 A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.6905,G/0.3095;Gene=CLSTN1/NM_001009566.2/1;CC=c.649+96T>C;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.649+96T>C;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.619+96T>C;VC=Intron;DM=CLSTN1/Laminin_G_3;DM=CLSTN1/Cadherin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:26:0:0:16,10:532,291:0.00,26.30:0.00,26.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.2,42.6:0,0:0,0:61,47:89,104:24,22:-,NM_001009566.1(CLSTN1) c.649+96T>C:-,0.25:-,NOT_FOUND 1 9811541 rs11674 A G 110 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.6905,G/0.3095;PC=0.010;Gene=CLSTN1/NM_001009566.2/1;CC=c.639T>C;ProtCh=p.V213=;VC=Silent;Gene=CLSTN1/NM_001302883.1/0;CC=c.639T>C;ProtCh=p.V213=;VC=Silent;Gene=CLSTN1/NM_014944.4/0;CC=c.609T>C;ProtCh=p.V203=;VC=Silent;DM=CLSTN1/Laminin_G_3;DM=CLSTN1/Cadherin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:79:69:0:0:41,38:1336,1157:0.00,109.97:0.00,78.71:0.00,31.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,39.2:0,0:0,0:46,35:87,114:26,18:-,NM_001009566.1(CLSTN1) c.639T>C (p.(=)):-,0.25:-,0.232893 1 9811740 . C . . NT END=9815170;NT GT ./. 1 9815368 . C . . NT END=9816537;NT GT ./. 1 9815543 rs4512653 C G 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6669,G/0.3331;PC=1.000;Gene=CLSTN1/NM_001009566.2/1;CC=c.245-176G>C;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.245-176G>C;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.215-176G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,G:12:0:0:0:5,7:139,211:0.00,20.90:0.00,0.00:0.00,20.90:0.00,0.99:0.00,0.00:0.00,0.99:60,60:23.4,39.3:0,0:0,0:88,97:63,54:10,21:-,NM_001009566.1(CLSTN1) c.245-176G>C:-,0.28:-,NOT_FOUND 1 9816272 rs4525044 T C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.01777,C/0.9822;Gene=CLSTN1/NM_001009566.2/1;CC=c.244+267A>G;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.244+267A>G;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.215-905A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:38.2:0:0:23:126:12:NM_001009566.1(CLSTN1) c.244+267A>G,NM_001009566.1(CLSTN1) c.244+267A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 9816569 . C . . NT END=9833328;NT GT ./. 1 9816620 rs6680090 T C 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.01777,C/0.9822;Gene=CLSTN1/NM_001009566.2/1;CC=c.215-52A>G;VC=Intron;Gene=CLSTN1/NM_001302883.1/0;CC=c.215-52A>G;VC=Intron;Gene=CLSTN1/NM_014944.4/0;CC=c.215-1253A>G;VC=Intron;DM=CLSTN1/Cadherin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C,T:24:15:0:0:23,1:709,13:80.02,0.00:36.24,0.00:43.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,59.0:0,0:0,0:102,86:46,56:13,0:NM_001009566.1(CLSTN1) c.215-52A>G,NM_001009566.1(CLSTN1) c.215-52A>G:0.97,0.97:0.967254,0.967254 1 9833453 . C . . NT END=9883699;NT GT ./. 1 9883792 . C . . NT END=9910775;NT GT ./. 1 9883878 rs6686034 T C 131 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=408;PC=0.006;Gene=CLSTN1/NM_001009566.2/1;CC=c.-87A>G;VC=5UTR;Gene=CLSTN1/NM_001302883.1/0;CC=c.-87A>G;VC=5UTR;Gene=CLSTN1/NM_014944.4/0;CC=c.-87A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A,C,G,T:40:12:0:0:1,37,1,1:9,1158,12,8:0.16,131.25,0.31,0.00:0.00,27.57,0.00,0.00:0.16,103.68,0.31,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:47.0,43.9,72.0,122.0:0,0,0,0:0,0,0,0:33,104,90,121:118,47,52,30:0,36,0,0:NM_001009566.1(CLSTN1) c.=,NM_001009566.1(CLSTN1) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 9883960 rs145817822 A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7514,G/0.2486;Gene=CLSTN1/NM_001009566.2/1;CC=c.-169T>C;VC=5UTR;Gene=CLSTN1/NM_001302883.1/0;CC=c.-169T>C;VC=5UTR;Gene=CLSTN1/NM_014944.4/0;CC=c.-169T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:9,8:241,213:0.00,20.02:0.00,0.00:0.00,20.02:0.00,0.99:0.00,0.00:0.00,0.99:60,60:37.9,67.4:0,0:0,0:115,77:36,71:25,18:-,NM_001009566.1(CLSTN1) c.-169T>C:-,0.22:-,NOT_FOUND 1 9910835 . C . . NT END=9931244;NT GT ./. 1 9931336 . C . . NT END=9932026;NT GT ./. 1 9932123 . C . . NT END=9982312;NT GT ./. 1 9982417 . C . . NT END=9989337;NT GT ./. 1 9989577 rs186441781 C T 152 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.9944,T/0.005591;NP=23;Gene=LZIC/NM_001316975/0;CC=c.514+2372G>A;VC=Intron;Gene=LZIC/NM_001316973/0;CC=c.*880G>A;VC=3UTR;Gene=LZIC/NM_001316974/0;CC=c.*880G>A;VC=3UTR;Gene=LZIC/NM_001316976/0;CC=c.*837G>A;VC=3UTR;Gene=LZIC/NM_032368.3/1;CC=c.*880G>A;VC=3UTR;DM=LZIC/ICAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:69:0:0:52,48:1465,1590:0.00,151.90:0.00,74.85:0.00,77.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,37.9:0,0:0,0:59,76:89,74:43,34:-,chr1 g.9989576C>T (intergenic):-,0.01:-,NOT_FOUND 1 9990516 . C . . NT END=9991948;NT GT ./. 1 9992031 . C . . NT END=9992860;NT GT ./. 1 9992159 rs574967153 TGGGG T 12 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=3;PC=0.008;Gene=LZIC/NM_001316975/0;CC=c.433-133_433-130delCCCC;VC=Intron;Gene=LZIC/NM_001316973/0;CC=c.433-133_433-130delCCCC;VC=Intron;Gene=LZIC/NM_001316974/0;CC=c.496-133_496-130delCCCC;VC=Intron;Gene=LZIC/NM_001316976/0;CC=c.337-1648_337-1645delCCCC;VC=Intron;Gene=LZIC/NM_032368.3/1;CC=c.433-133_433-130delCCCC;VC=Intron;DM=LZIC/ICAT;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:TGGGG,T:6:0:0:10:1,5:21,194:0.00,12.35:0.00,0.00:0.00,12.35:0.00,0.96:0.00,0.00:0.00,0.96:60,60:40.0,77.4:0,3:0,0:144,59:7,84:0,22:-,NM_032368.3(LZIC) c.433-133_433-130delCCCC:-,NOT_FOUND:-,NOT_FOUND 1 9992302 rs3013785 A C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3476,C/0.6524;PC=0.029;Gene=LZIC/NM_001316975/0;CC=c.433-272T>G;VC=Intron;Gene=LZIC/NM_001316973/0;CC=c.433-272T>G;VC=Intron;Gene=LZIC/NM_001316974/0;CC=c.496-272T>G;VC=Intron;Gene=LZIC/NM_001316976/0;CC=c.337-1787T>G;VC=Intron;Gene=LZIC/NM_032368.3/1;CC=c.433-272T>G;VC=Intron;DM=LZIC/ICAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:126:14.50:0.00:14.50:1.00:0.00:1.00:60:68.8:0:0:125:21:11:NM_032368.3(LZIC) c.433-272T>G,NM_032368.3(LZIC) c.433-272T>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 9992743 rs70998327 G GA 9 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=4;NP=5;PC=0.006;Gene=LZIC/NM_001316975/0;CC=c.432+117_432+118insT;VC=Intron;Gene=LZIC/NM_001316973/0;CC=c.432+117_432+118insT;VC=Intron;Gene=LZIC/NM_001316974/0;CC=c.495+117_495+118insT;VC=Intron;Gene=LZIC/NM_001316976/0;CC=c.336+2076_336+2077insT;VC=Intron;Gene=LZIC/NM_032368.3/1;CC=c.432+117_432+118insT;VC=Intron;DM=LZIC/ICAT;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G,GA:11:12:4:0:1,7,3:25,207,132:1.64,0.00,8.65:1.64,0.00,8.65:0.00,0.00,0.00:0.00,0.00,0.59:0.00,0.00,0.59:0.00,0.00,0.00:60,60,60:101.0,25.6,8.7:0,0,1:0,0,0:0,73,31:151,77,118:0,67,14:-,NM_032368.3(LZIC) c.432+117_432+118insT:-,NOT_FOUND:-,NOT_FOUND 1 9992957 . C . . NT END=9994819;NT GT ./. 1 9994919 . C . . NT END=9995549;NT GT ./. 1 9995254 rs1220399 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5068,A/0.4932;PC=0.006;Gene=LZIC/NM_001316975/0;CC=c.237+296C>T;VC=Intron;Gene=LZIC/NM_001316973/0;CC=c.237+296C>T;VC=Intron;Gene=LZIC/NM_001316974/0;CC=c.300+296C>T;VC=Intron;Gene=LZIC/NM_001316976/0;CC=c.237+296C>T;VC=Intron;Gene=LZIC/NM_032368.3/1;CC=c.237+296C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:34.0:0:0:21:129:4:NM_032368.3(LZIC) c.237+296C>T,NM_032368.3(LZIC) c.237+296C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 9995686 . C . . NT END=9996576;NT GT ./. 1 9996686 . C . . NT END=10002681;NT GT ./. 1 9997079 rs1220400 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4892,C/0.5108;PC=0.051;Gene=LZIC/NM_001316975/0;CC=c.-8-394A>G;VC=Intron;Gene=LZIC/NM_001316973/0;CC=c.-8-394A>G;VC=Intron;Gene=LZIC/NM_001316974/0;CC=c.56-394A>G;VC=Intron;Gene=LZIC/NM_001316976/0;CC=c.-8-394A>G;VC=Intron;Gene=LZIC/NM_032368.3/1;CC=c.-8-394A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:136:15.51:4.03:11.48:1.00:1.00:1.00:60:43.0:0:0:74:76:19:NM_032368.3(LZIC) c.-8-394A>G,NM_032368.3(LZIC) c.-8-394A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 10002794 . C . . NT END=10032131;NT GT ./. 1 10032247 . G . . NT END=10035649;NT GT ./. 1 10035473 rs6657844 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.04992,C/0.9501;Gene=NMNAT1/NM_001297778.1/0;CC=c.116-177T>C;VC=Intron;Gene=NMNAT1/NM_001297779.1/0;CC=c.116-177T>C;VC=Intron;Gene=NMNAT1/NM_022787.3/1;CC=c.116-177T>C;VC=Intron;DM=NMNAT1/CTP_transf_like;DM=NMNAT1/CTP_transf_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:34.2:0:0:77:74:51:NM_022787.3(NMNAT1) c.116-177T>C,NM_022787.3(NMNAT1) c.116-177T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 10035834 . G . . NT END=10041088;NT GT ./. 1 10041229 . G . . NT END=10041313;NT GT ./. 1 10041298 . AT A 37 idl,rn VT=DEL;SST=Single;DP=96;NP=6;Gene=NMNAT1/NM_001297778.1/0;CC=c.439+83delT;VC=Intron;Gene=NMNAT1/NM_001297779.1/0;CC=c.440-3delT;VC=Intron;Gene=NMNAT1/NM_022787.3/1;CC=c.439+83delT;VC=Intron;DM=NMNAT1/CTP_transf_like;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:93:43:3:18:75,3,15:2204,100,570:0.00,5.89,37.37:0.00,2.00,11.78:0.00,3.89,25.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.8,0.0,14.0:1,0,3:0,0,0:108,115,90:41,35,54:24,6,20:-,NM_022787.3(NMNAT1) c.439+71delT:-,NOT_FOUND:-,NOT_FOUND 1 10041387 . g . . NT END=10042358;NT GT ./. 1 10042760 . G . . NT END=10057316;NT GT ./. 1 10057390 . G . . NT END=10067627;NT GT ./. 1 10057670 rs6680076 G A 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4856,A/0.5144;Gene=RBP7/NM_052960.2/1;CC=c.73+281G>A;VC=Intron;DM=RBP7/Lipocalin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:84:10.16:0.00:10.16:1.00:0.00:1.00:60:35.5:0:0:81:65:18:NM_052960.2(RBP7) c.73+281G>A,NM_052960.2(RBP7) c.73+281G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 10067807 . G . . NT END=10068230;NT GT ./. 1 10068333 . G . . NT END=10075839;NT GT ./. 1 10068501 . AT A 8 rn VT=DEL;SST=Single;DP=10;PC=0.021;Gene=RBP7/NM_052960.2/1;CC=c.354+185delT;VC=Intron;DM=RBP7/Lipocalin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:AT,A:10:2:0:3:7,3:226,97:0.00,8.48:0.00,-0.23:0.00,8.71:0.00,0.62:0.00,0.59:0.00,0.94:60,60:18.7,0.0:0,0:0,0:127,110:24,41:20,10:-,NM_052960.2(RBP7) c.354+170delT:-,NOT_FOUND:-,NOT_FOUND 1 10075891 . T . . NT END=10093728;NT GT ./. 1 10093753 . G . . NT END=10132085;NT GT ./. 1 10132273 . G . . NT END=10155518;NT GT ./. 1 10155283 rs9430244 A G 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1518,G/0.8482;Gene=UBE4B/NM_001105562.2/1;CC=c.212-236A>G;VC=Intron;Gene=UBE4B/NM_006048.4/0;CC=c.212-236A>G;VC=Intron;DM=UBE4B/Ufd2P_core;DM=UBE4B/Ufd2P_core GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:382:44.77:44.77:0.00:1.00:1.00:0.00:60:51.4:0:0:35:115:24:NM_001105562.2(UBE4B) c.212-236A>G,NM_001105562.2(UBE4B) c.212-236A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 10155354 rs201933475 TTTA T 26 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=TTTA/0.9952,T/0.004792;NP=14;PC=0.012;Gene=UBE4B/NM_001105562.2/1;CC=c.212-159_212-157delATT;VC=Intron;Gene=UBE4B/NM_006048.4/0;CC=c.212-159_212-157delATT;VC=Intron;DM=UBE4B/Ufd2P_core;DM=UBE4B/Ufd2P_core;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTA,T:22:22:0:10:13,9:406,282:0.00,26.03:0.00,26.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:31.0,9.4:0,0:0,0:78,35:69,115:23,26:-,NM_001105562.2(UBE4B) c.212-164_212-162delTTA:-,0.01:-,NOT_FOUND 1 10155655 . G . . NT END=10161165;NT GT ./. 1 10161254 . G . . NT END=10163005;NT GT ./. 1 10163151 . G . . NT END=10165573;NT GT ./. 1 10165803 . G . . NT END=10166254;NT GT ./. 1 10166642 . G . . NT END=10167279;NT GT ./. 1 10167433 . G . . NT END=10177516;NT GT ./. 1 10177659 . G . . NT END=10179570;NT GT ./. 1 10177680 rs539066459 TA T 20 idl,rn VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;PC=0.683;Gene=UBE4B/NM_001105562.2/1;CC=c.1338+34delA;VC=Intron;Gene=UBE4B/NM_006048.4/0;CC=c.951+34delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,TA,I,T:78:36:3:12:2,64,3,9:21,1896,100,372:-0.22,0.00,6.10,20.17:-0.21,0.00,6.82,10.50:-0.00,0.00,-0.73,9.67:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.95:0.00,0.00,0.00,1.00:60,60,60,60:40.0,14.8,0.0,30.8:0,0,0,3:0,0,0,0:24,95,120,88:126,45,31,58:19,32,14,24:-,NM_001105562.2(UBE4B) c.1338+23delA:-,NOT_FOUND:-,0.128802 1 10179672 . G . . NT END=10182019;NT GT ./. 1 10182135 . G . . NT END=10186851;NT GT ./. 1 10186936 . G . . NT END=10189449;NT GT ./. 1 10189507 . G . . NT END=10190557;NT GT ./. 1 10190675 . G . . NT END=10190772;NT GT ./. 1 10190872 . G . . NT END=10192426;NT GT ./. 1 10190884 rs2295294 A T 74 nt VT=SNV;PN=G;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.5132,T/0.4868;PC=0.031;Gene=UBE4B/NM_001105562.2/1;CC=c.1911+13A>T;VC=Intron;Gene=UBE4B/NM_006048.4/0;CC=c.1524+13A>T;VC=Intron;DM=UBE4B/Ufd2P_core GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:49:15:0:0:23,26:686,763:0.00,73.92:0.00,10.35:0.00,63.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,43.5:0,0:0,0:116,94:34,56:21,25:-,NM_001105562.2(UBE4B) c.1911+13A>T:-,0.48:-,0.479855 1 10192541 . G . . NT END=10195045;NT GT ./. 1 10195245 . G . . NT END=10197124;NT GT ./. 1 10197264 . G . . NT END=10204997;NT GT ./. 1 10205098 . G . . NT END=10207020;NT GT ./. 1 10207149 . G . . NT END=10209241;NT GT ./. 1 10209341 . G . . NT END=10211383;NT GT ./. 1 10209557 rs6696978 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8161,G/0.1839;PC=0.003;Gene=UBE4B/NM_001105562.2/1;CC=c.2690+217A>G;VC=Intron;Gene=UBE4B/NM_006048.4/0;CC=c.2303+217A>G;VC=Intron;DM=UBE4B/Ufd2P_core GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G:7:0:0:0:2,5:61,158:0.00,16.36:0.00,0.00:0.00,16.36:0.00,0.98:0.00,0.00:0.00,0.98:60,60:34.5,31.6:0,0:0,0:49,100:102,51:2,25:-,NM_001105562.2(UBE4B) c.2690+217A>G:-,0.22:-,NOT_FOUND 1 10211620 . G . . NT END=10218413;NT GT ./. 1 10218541 . G . . NT END=10221199;NT GT ./. 1 10221345 . G . . NT END=10228193;NT GT ./. 1 10227030 rs374805121 A C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6088,C/0.3912;DB;DBA=NA;PAF=NA;NP=288;PC=0.001;Gene=UBE4B/NM_001105562.2/1;CC=c.3199-1164A>C;VC=Intron;Gene=UBE4B/NM_006048.4/0;CC=c.2812-1164A>C;VC=Intron;DM=UBE4B/Ufd2P_core GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:6:6:0:0:2,4:67,138:0.00,14.05:0.00,10.44:0.00,3.61:0.00,0.93:0.00,0.93:0.00,0.97:60,60:50.0,70.8:1,0:0,0:77,91:57,40:29,40:-,NM_001105562.2(UBE4B) c.3199-1164A>C:-,NOT_FOUND:-,NOT_FOUND 1 10227032 rs34277013 A C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8652,C/0.1348;NP=62;Gene=UBE4B/NM_001105562.2/1;CC=c.3199-1162A>C;VC=Intron;Gene=UBE4B/NM_006048.4/0;CC=c.2812-1162A>C;VC=Intron;DM=UBE4B/Ufd2P_core GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,C:7:6:0:0:2,5:67,148:0.00,15.36:0.00,10.44:0.00,4.92:0.00,0.98:0.00,1.00:0.00,0.98:60,60:50.0,89.0:0,0:0,0:79,113:55,28:29,29:-,NM_001105562.2(UBE4B) c.3199-1162A>C:-,NOT_FOUND:-,NOT_FOUND 1 10228329 . G . . NT END=10231195;NT GT ./. 1 10231388 . G . . NT END=10238701;NT GT ./. 1 10238877 . G . . NT END=10239473;NT GT ./. 1 10239621 . G . . NT END=10239952;NT GT ./. 1 10240015 . A . . NT END=10292386;NT GT ./. 1 10240176 rs182131511 G A 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9982,A/0.001797;NP=12;PC=0.027;Gene=UBE4B/NM_001105562.2/1;CC=c.*162G>A;VC=3UTR;Gene=UBE4B/NM_006048.4/0;CC=c.*162G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:0:0:0:12,10:409,300:40.05,0.00:0.00,0.00:40.05,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.8,12.4:0,0:0,0:102,90:49,61:37,20:NM_001105562.2(UBE4B) c.*162G>A,-:0.0018,-:NOT_FOUND,- 1 10292493 . G . . NT END=10316304;NT GT ./. 1 10316382 . G . . NT END=10318550;NT GT ./. 1 10318652 rs12402052 C G 71 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=in-clinvar;PAF=C/0.77,A/.,G/0.23,T/.;PC=0.922;Gene=KIF1B/NM_183416.3/0;CC=c.285C>G;ProtCh=p.A95=;VC=Silent;Gene=KIF1B/NM_015074.3/1;CC=c.285C>G;ProtCh=p.A95=;VC=Silent;DM=KIF1B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:53:34:0:0:30,23:1009,756:0.00,70.82:0.00,37.52:0.00,33.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.0,36.7:0,0:0,0:44,68:101,80:25,29:-,NM_015074.3(KIF1B) c.285C>G (p.(=)):-,0.26:-,0.22728 1 10318731 . G . . NT END=10321962;NT GT ./. 1 10322029 . G . . NT END=10327437;NT GT ./. 1 10322054 rs4846209 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6601,A/0.3399;Gene=KIF1B/NM_183416.3/0;CC=c.429+26G>A;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.429+26G>A;VC=Intron;DM=KIF1B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:6:0:0:8,9:257,287:24.41,0.00:11.25,0.00:13.17,0.00:0.99,0.00:0.97,0.00:1.00,0.00:60,60:33.6,4.7:0,0:0,0:109,121:41,21:30,17:NM_015074.3(KIF1B) c.429+26G>A,-:0.37,-:0.343226,- 1 10322153 rs4846210 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.769,G/0.231;PC=0.001;Gene=KIF1B/NM_183416.3/0;CC=c.429+125A>G;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.429+125A>G;VC=Intron;DM=KIF1B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:7:0:0:0:2,5:64,147:0.00,15.26:0.00,0.00:0.00,15.26:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.5,47.2:0,0:0,0:50,39:100,112:1,9:-,NM_015074.3(KIF1B) c.429+125A>G:-,0.26:-,NOT_FOUND 1 10327407 rs12141246 A T 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.6194,G/.,T/0.3806;Gene=KIF1B/NM_183416.3/0;CC=c.430-31A>T;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.430-31A>T;VC=Intron;DM=KIF1B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:56:53:0:0:32,24:1039,827:0.00,77.56:0.00,59.38:0.00,18.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,36.3:0,0:0,0:36,41:114,106:30,28:-,NM_015074.3(KIF1B) c.430-31A>T:-,0.4:-,0.37006 1 10327617 . G . . NT END=10328209;NT GT ./. 1 10328322 . G . . NT END=10331559;NT GT ./. 1 10328338 rs1339458 C T 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.746,A/.,T/0.254;Gene=KIF1B/NM_183416.3/0;CC=c.720+17C>T;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.720+17C>T;VC=Intron;DM=KIF1B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:5:0:0:11,15:353,477:0.00,47.17:0.00,8.62:0.00,38.55:0.00,1.00:0.00,0.98:0.00,1.00:60,60:1.3,37.1:0,0:0,0:97,94:50,57:18,38:-,NM_015074.3(KIF1B) c.720+17C>T:-,0.28:-,0.248193 1 10331638 . G . . NT END=10332298;NT GT ./. 1 10332365 . G . . NT END=10333071;NT GT ./. 1 10333090 . G . . NT END=10335485;NT GT ./. 1 10335315 rs6685773 G A 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.001597,A/0.9984;NP=1479;PC=0.001;Gene=KIF1B/NM_183416.3/0;CC=c.865-171G>A;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.865-171G>A;VC=Intron;DM=KIF1B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:347:39.94:39.94:0.00:1.00:1.00:0.00:60:32.5:0:0:55:96:32:NM_015074.3(KIF1B) c.865-171G>A,NM_015074.3(KIF1B) c.865-171G>A:1,1:NOT_FOUND,NOT_FOUND 1 10335562 . G . . NT END=10336378;NT GT ./. 1 10336458 . G . . NT END=10338043;NT GT ./. 1 10338187 . G . . NT END=10339154;NT GT ./. 1 10339197 . G . . NT END=10342379;NT GT ./. 1 10339209 rs529524575 CAT C 32 nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=CAT/0.7654,C/0.2346;DB;DBA=NA;PAF=CAT/0.7654,C/0.2346;NP=86;PC=1.000;Gene=KIF1B/NM_183416.3/0;CC=c.1162+1026_1162+1027delAT;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1162+1026_1162+1027delAT;VC=Intron;DM=KIF1B/Kinesin_assoc;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAT,C:31:18:0:11:20,11:697,354:0.00,31.89:0.00,15.09:0.00,16.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,2.1:1,0:0,0:106,93:42,43:19,33:-,NM_015074.3(KIF1B) c.1162+1024_1162+1025delAT:-,0.27:-,NOT_FOUND 1 10342352 rs3748575 C T 82 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.4643,T/0.5357;PC=0.865;Gene=KIF1B/NM_183416.3/0;CC=c.1163-106C>T;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1163-106C>T;VC=Intron;DM=KIF1B/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:35:0:0:13,26:433,809:0.00,82.44:0.00,69.89:0.00,12.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,42.9:0,0:0,0:60,49:88,98:21,25:-,NM_015074.3(KIF1B) c.1163-106C>T:-,0.53:-,NOT_FOUND 1 10342592 . G . . NT END=10351139;NT GT ./. 1 10342629 rs3748576 G A 56 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.2873,A/0.7127;Gene=KIF1B/NM_183416.3/0;CC=c.1296+38G>A;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1296+38G>A;VC=Intron;DM=KIF1B/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:4:0:0:18,17:580,534:56.06,0.00:-0.78,0.00:56.85,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:34.3,7.8:0,0:0,0:98,103:51,47:37,36:NM_015074.3(KIF1B) c.1296+38G>A,-:0.7,-:0.709134,- 1 10351220 . G . . NT END=10352104;NT GT ./. 1 10352181 . G . . NT END=10355143;NT GT ./. 1 10355224 . G . . NT END=10355717;NT GT ./. 1 10355825 . G . . NT END=10356639;NT GT ./. 1 10355834 rs3753037 C T 86 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.736,T/0.264;Gene=KIF1B/NM_183416.3/0;CC=c.1639+10C>T;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1639+10C>T;VC=Intron;DM=KIF1B/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:27:0:0:32,29:1022,905:0.00,85.95:0.00,26.00:0.00,59.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,39.0:0,0:0,0:102,107:29,43:29,12:-,NM_015074.3(KIF1B) c.1639+10C>T:-,0.29:-,0.259419 1 10356028 rs34437412 T TG 13 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6683,TG/0.3317;NP=78;PC=0.909;Gene=KIF1B/NM_183416.3/0;CC=c.1639+204_1639+205insG;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1639+204_1639+205insG;VC=Intron;DM=KIF1B/Kinesin_assoc;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:T,TG:8:0:4:0:4,4:130,132:0.00,12.70:0.00,0.00:0.00,12.70:0.00,0.87:0.00,0.00:0.00,0.87:60,60:0.0,6.5:0,0:0,0:132,115:17,35:7,14:-,NM_015074.3(KIF1B) c.1639+204_1639+205insG:-,0.36:-,NOT_FOUND 1 10356562 rs2275424 C A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.769,A/0.231;Gene=KIF1B/NM_183416.3/0;CC=c.1640-78C>A;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1640-78C>A;VC=Intron;DM=KIF1B/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:19:0:0:10,9:240,307:22.91,0.00:19.46,0.00:3.45,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:41.9,5.6:0,0:0,0:26,86:123,65:19,29:NM_015074.3(KIF1B) c.1640-78C>A,-:0.26,-:NOT_FOUND,- 1 10356724 . G . . NT END=10356954;NT GT ./. 1 10356848 rs912961 A G 73 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.6749,G/0.3251;Gene=KIF1B/NM_183416.3/0;CC=c.1724-107A>G;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1724-107A>G;VC=Intron;DM=KIF1B/FHA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:26:0:0:17,23:493,740:0.00,73.12:0.00,53.18:0.00,19.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,46.8:0,0:0,0:72,73:79,78:38,37:-,NM_015074.3(KIF1B) c.1724-107A>G:-,0.35:-,NOT_FOUND 1 10357136 . G . . NT END=10357231;NT GT ./. 1 10357206 rs199617049 AT A 40 idl,rn VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=43;Gene=KIF1B/NM_183416.3/0;CC=c.1905-9delT;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1905-9delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,I,A:66:34:3:22:47,1,3,15:1352,12,93,708:0.00,-0.08,5.73,40.07:0.00,-0.09,2.06,10.56:0.00,0.01,3.67,29.51:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:20.1,22.0,25.3,14.5:0,0,0,7:0,0,0,0:106,40,105,73:45,109,43,71:35,0,3,43:-,NM_015074.3(KIF1B) c.1905-25delT:-,NOT_FOUND:-,NOT_FOUND 1 10357305 . G . . NT END=10363220;NT GT ./. 1 10357406 rs3748577 A G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6749,G/0.3251;Gene=KIF1B/NM_183416.3/0;CC=c.1977+102A>G;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1977+102A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:13:1:0:0:8,5:257,171:0.00,15.72:0.00,-0.21:0.00,15.93:0.00,0.91:0.00,0.59:0.00,0.99:60,60:0.8,34.2:0,0:0,0:127,123:23,26:12,18:-,NM_015074.3(KIF1B) c.1977+102A>G:-,0.35:-,NOT_FOUND 1 10363050 rs397795185 C CCA 27 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7356,CCA/0.2644;DB;DBA=NA;PAF=C/0.7356,CCA/0.2644;NP=1;NP=261;Gene=KIF1B/NM_183416.3/0;CC=c.1978-168_1978-167dupCA;VC=Intron;Gene=KIF1B/NM_015074.3/1;CC=c.1977+5749_1977+5750dupCA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CCA:24:24:9:0:14,1,9:441,11,289:0.00,0.12,26.51:0.00,0.12,26.51:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:25.8,48.0,13.4:0,0,0:0,0,0:40,148,51:110,2,100:22,0,27:-,NM_015074.3(KIF1B) c.1977+5746_1977+5747insCA:-,0.28:-,NOT_FOUND 1 10366487 rs8019 T G 75 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.6162,G/0.3838;PC=0.015;Gene=KIF1B/NM_183416.3/0;CC=c.*1782T>G;VC=3UTR;Gene=KIF1B/NM_015074.3/1;CC=c.1977+9183T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:51:27:0:0:24,27:787,867:74.81,0.00:20.76,0.00:54.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,3.6:0,0:0,0:94,93:56,42:27,42:NM_015074.3(KIF1B) c.1977+9183T>G,-:0.41,-:NOT_FOUND,- 1 10366545 . t . . NT END=10366816;NT GT ./. 1 10366692 rs4623 C G 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.015;Gene=KIF1B/NM_183416.3/0;CC=c.*1987C>G;VC=3UTR;Gene=KIF1B/NM_015074.3/1;CC=c.1977+9388C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:44:31:0:0:24,20:728,642:0.00,60.55:0.00,56.77:0.00,3.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,36.2:0,0:0,0:82,50:68,100:48,25:-,NM_015074.3(KIF1B) c.1977+9388C>G:-,0.36:-,NOT_FOUND 1 10366815 rs376684894 TA T 36 idl,rn VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.005;Gene=KIF1B/NM_183416.3/0;CC=c.*2137delA;VC=3UTR;Gene=KIF1B/NM_015074.3/1;CC=c.1977+9538delA;VC=Intron;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,TA,I,T:57:65:15:20:2,32,10,13:41,1003,495,618:1.79,0.00,27.14,36.02:1.47,0.00,24.37,27.37:0.32,0.00,2.78,8.65:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.87:60,60,60,60:78.5,22.2,71.3,32.4:0,0,5,6:0,0,0,0:0,110,61,39:146,28,88,91:0,24,17,18:-,NM_015074.3(KIF1B) c.1977+9512delA:-,NOT_FOUND:-,NOT_FOUND 1 10367380 . g . . NT END=10367647;NT GT ./. 1 10367424 rs2004034 G A 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7684,A/0.2316;Gene=KIF1B/NM_183416.3/0;CC=c.*2719G>A;VC=3UTR;Gene=KIF1B/NM_015074.3/1;CC=c.1977+10120G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:10:0:0:18,18:570,598:54.75,0.00:22.08,0.00:32.67,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:48.1,1.3:0,0:0,0:78,92:72,58:57,31:NM_015074.3(KIF1B) c.1977+10120G>A,-:0.26,-:NOT_FOUND,- 1 10367591 rs1065828 T C 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6659,C/0.3341;Gene=KIF1B/NM_183416.3/0;CC=c.*2886T>C;VC=3UTR;Gene=KIF1B/NM_015074.3/1;CC=c.1977+10287T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:36:30:0:0:1,18,17:10,596,532:0.03,57.64,0.00:0.08,46.62,0.00:-0.06,11.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:39.0,36.9,13.6:0,0,0:0,0,0:24,45,49:126,105,102:0,24,23:NM_015074.3(KIF1B) c.1977+10287T>C,-:0.35,-:NOT_FOUND,- 1 10368656 . G . . NT END=10380100;NT GT ./. 1 10380195 . G . . NT END=10381766;NT GT ./. 1 10381916 . G . . NT END=10383941;NT GT ./. 1 10384121 . G . . NT END=10384815;NT GT ./. 1 10384176 rs3831405 C CTTGAAA 38 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7674,CTTGAAA/0.2326;NP=1;Gene=KIF1B/NM_015074.3/1;CC=c.2399+57_2399+58insTGAAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTTGAAA:31:6:13:0:18,13:596,411:0.00,38.14:0.00,4.68:0.00,33.47:0.00,1.00:0.00,0.95:0.00,1.00:60,60:9.3,10.9:0,0:0,0:110,108:40,43:31,21:-,NM_015074.3(KIF1B) c.2399+56_2399+57insTTGAAA:-,0.26:-,NOT_FOUND 1 10384711 . CT C 10 idl,rn VT=DEL;SST=Single;DP=31;NP=49;PC=0.022;Gene=KIF1B/NM_015074.3/1;CC=c.2400-92delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:CT,I,C:29:28:3:6:22,3,4:693,90,196:0.00,6.42,9.93:0.00,5.37,10.11:0.00,1.05,-0.18:0.00,0.00,0.64:0.00,0.00,0.94:0.00,0.00,0.43:60,60,60:21.1,20.7,47.0:0,0,2:0,0,0:38,71,43:111,80,106:23,17,28:-,NM_015074.3(KIF1B) c.2400-104delT:-,NOT_FOUND:-,NOT_FOUND 1 10384954 . G . . NT END=10386168;NT GT ./. 1 10386418 . G . . NT END=10394577;NT GT ./. 1 10394536 rs2276100 C G 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.6661,G/0.3339;Gene=KIF1B/NM_015074.3/1;CC=c.2787-42C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:32:29:0:0:14,18:445,538:0.00,52.83:0.00,43.34:0.00,9.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,47.7:0,0:0,0:49,29:101,120:27,27:-,NM_015074.3(KIF1B) c.2787-42C>G:-,0.36:-,0.326311 1 10394697 . G . . NT END=10396714;NT GT ./. 1 10396801 . G . . NT END=10397131;NT GT ./. 1 10397262 . G . . NT END=10397428;NT GT ./. 1 10397592 . G . . NT END=10399826;NT GT ./. 1 10399918 . G . . NT END=10402107;NT GT ./. 1 10402009 rs552912577 CA C 25 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CA/0.4685,C/0.5315;DB;DBA=NA;PAF=CA/0.4685,C/0.5315;NP=130;PC=0.070;Gene=KIF1B/NM_015074.3/1;CC=c.3376-82delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:CA,I,C:15:17:2:9:6,1,8:204,66,289:0.00,2.49,25.04:0.00,2.49,25.04:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:56.3,0.0,18.0:0,1,1:0,0,0:95,49,43:56,101,108:26,44,20:-,NM_015074.3(KIF1B) c.3376-98delA:-,NOT_FOUND:-,NOT_FOUND 1 10402227 . G . . NT END=10403289;NT GT ./. 1 10403346 . G . . NT END=10405902;NT GT ./. 1 10403482 rs1556916 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6595,A/0.3405;Gene=KIF1B/NM_015074.3/1;CC=c.3550+137G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:9:1:0:0:4,5:96,168:8.81,0.00:1.76,0.00:7.04,0.00:0.85,0.00:0.63,0.00:0.85,0.00:60,60:86.2,25.6:0,0:0,0:8,140:141,11:4,2:NM_015074.3(KIF1B) c.3550+137G>A,-:0.36,-:NOT_FOUND,- 1 10406012 . G . . NT END=10407818;NT GT ./. 1 10407886 . G . . NT END=10408706;NT GT ./. 1 10408792 . G . . NT END=10412688;NT GT ./. 1 10408837 . AT A 12 idl,rn VT=DEL;SST=Single;DP=40;NP=13;PC=0.006;Gene=KIF1B/NM_015074.3/1;CC=c.3811+60delT;VC=Intron;DM=KIF1B/DUF3694;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:AT,C,T,I,A:39:12:3:6:29,1,1,3,5:904,8,13,94,188:0.00,-0.18,0.06,6.48,11.60:0.00,0.07,-0.07,2.05,2.58:0.00,-0.25,0.13,4.43,9.02:0.00,0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.00,0.72:0.00,0.00,0.00,0.00,0.96:60,60,60,60,60:6.8,8.0,13.0,14.7,29.0:0,0,0,0,1:0,0,0,0,0:98,149,89,93,107:45,2,62,57,35:23,0,0,34,16:-,NM_015074.3(KIF1B) c.3811+47delT:-,NOT_FOUND:-,NOT_FOUND 1 10412795 . G . . NT END=10420986;NT GT ./. 1 10420918 rs3748578 G A 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7091,A/0.2909;Gene=KIF1B/NM_015074.3/1;CC=c.3918-69G>A;VC=Intron;DM=KIF1B/DUF3694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:29:28:0:0:11,17,1:347,573,10:31.80,0.00,0.02:30.53,0.00,0.05:1.26,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:0.85,0.00,0.00:60,60,60:73.1,1.3,31.0:0,0,0:0,0,0:44,52,113:107,98,38:16,38,0:NM_015074.3(KIF1B) c.3918-69G>A,-:0.31,-:NOT_FOUND,- 1 10420937 rs3748579 C T 40 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.6659,T/0.3341;Gene=KIF1B/NM_015074.3/1;CC=c.3918-50C>T;VC=Intron;DM=KIF1B/DUF3694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:31:0:0:19,13:610,430:0.00,39.82:0.00,38.96:0.00,0.86:0.00,1.00:0.00,1.00:0.00,0.94:60,60:5.5,71.2:0,0:0,0:56,58:94,93:33,16:-,NM_015074.3(KIF1B) c.3918-50C>T:-,0.36:-,0.326157 1 10421102 . G . . NT END=10421749;NT GT ./. 1 10421884 . G . . NT END=10423340;NT GT ./. 1 10423403 . G . . NT END=10425157;NT GT ./. 1 10425063 rs57088720 C CA 19 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.633,CA/0.367,CAA/.,CAAA/.;DB;DBA=NA;PAF=C/0.633,CA/0.367,CAA/.;NP=1;NP=9;PC=0.002;Gene=KIF1B/NM_015074.3/1;CC=c.4229-79_4229-78insA;VC=Intron;DM=KIF1B/DUF3694;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,CA,D:19:28:16:3:10,7,2:318,472,100:0.00,18.52,5.02:0.00,17.60,5.04:0.00,0.92,-0.02:0.00,0.96,0.00:0.00,1.00,0.00:0.00,0.60,0.00:60,60,60:17.1,53.4,13.5:0,9,1:0,0,0:25,38,32:115,113,92:20,30,11:-,NM_015074.3(KIF1B) c.4229-95_4229-94insA:-,NOT_FOUND:-,NOT_FOUND 1 10425117 rs398049111 AT A 100 rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=AT/0.476,A/0.524;DB;DBA=NA;PAF=AT/0.476,A/0.524;NP=2374;PC=0.001;Gene=KIF1B/NM_015074.3/1;CC=c.4229-33delT;VC=Intron;DM=KIF1B/DUF3694;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:65:58:0:34:31,34:965,1031:0.00,99.80:0.00,80.93:0.00,18.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,10.8:0,0:0,0:43,40:96,111:27,22:-,NM_015074.3(KIF1B) c.4229-40delT:-,0.52:-,NOT_FOUND 1 10425304 . G . . NT END=10425466;NT GT ./. 1 10425707 . G . . NT END=10428524;NT GT ./. 1 10428452 rs12130563 G A 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.6659,A/0.3341;PC=0.001;Gene=KIF1B/NM_015074.3/1;CC=c.4615-73G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:26:0:0:14,14:450,453:43.23,0.00:35.29,0.00:7.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,3.6:0,0:0,0:98,36:51,111:29,20:NM_015074.3(KIF1B) c.4615-73G>A,-:0.36,-:NOT_FOUND,- 1 10428597 . G . . NT END=10431198;NT GT ./. 1 10431158 rs17411502 T C 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.751,C/0.249;Gene=KIF1B/NM_015074.3/1;CC=c.4687-41T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:49:0:0:24,32:793,1058:74.12,0.00:65.01,0.00:9.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,5.8:0,0:0,0:36,54:108,93:26,30:NM_015074.3(KIF1B) c.4687-41T>C,-:0.28,-:0.251038,- 1 10431321 . G . . NT END=10434373;NT GT ./. 1 10434524 . G . . NT END=10434911;NT GT ./. 1 10435105 . G . . NT END=10435312;NT GT ./. 1 10435170 rs11121551 T C 61 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6589,C/0.3411;Gene=KIF1B/NM_015074.3/1;CC=c.5151+66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:24:0:0:21,25:651,793:61.35,0.00:18.47,0.00:42.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,1.9:0,0:0,0:62,87:89,64:47,29:NM_015074.3(KIF1B) c.5151+66T>C,-:0.36,-:NOT_FOUND,- 1 10435324 rs11121552 C A 90 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=in-clinvar;PAF=C/0.7684,A/0.2316;PC=0.152;Gene=KIF1B/NM_015074.3/1;CC=c.5163C>A;ProtCh=p.T1721=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:72:50:0:0:29,43:973,1443:90.06,0.00:53.33,0.00:36.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,3.2:0,0:0,0:71,54:80,93:28,25:NM_015074.3(KIF1B) c.5163C>A (p.(=)),-:0.26,-:0.230509,- 1 10435432 . G . . NT END=10436602;NT GT ./. 1 10436646 . G . . NT END=10459030;NT GT ./. 1 10459183 . G . . NT END=10459685;NT GT ./. 1 10459762 . G . . NT END=10460449;NT GT ./. 1 10459779 rs3737155 G A 101 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.6655,A/0.3345;Gene=PGD/NM_001304451.1/0;CC=c.84+18G>A;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.84+18G>A;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.45+18G>A;VC=Intron;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:62:33:0:0:33,28,1:1036,865,11:101.07,0.00,-0.01:41.22,0.00,-0.06:59.85,0.00,0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.1,4.7,25.0:0,0,0:0,0,0:102,86,142:46,53,9:19,41,0:NM_002631.2(PGD) c.84+18G>A,-:0.36,-:0.328156,- 1 10460485 rs1049887 T C 110 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.7662,C/0.2338;PC=0.999;Gene=PGD/NM_001304451.1/0;CC=c.120T>C;ProtCh=p.D40=;VC=Silent;Gene=PGD/NM_002631.3/1;CC=c.120T>C;ProtCh=p.D40=;VC=Silent;Gene=PGD/NM_001304452.1/0;CC=c.81T>C;ProtCh=p.D27=;VC=Silent;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:52:0:0:36,27:1118,904:110.23,0.00:73.06,0.00:37.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,1.3:0,0:0,0:86,46:63,104:26,36:NM_002631.2(PGD) c.120T>C (p.(=)),-:0.26,-:0.2332,- 1 10460630 . G . . NT END=10463127;NT GT ./. 1 10460716 rs397960027 A AT 51 rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.5607,AT/0.4393;DB;DBA=NA;PAF=A/0.5607,AT/0.4393;NP=380;Gene=PGD/NM_001304451.1/0;CC=c.264+98dupT;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.264+98dupT;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.225+98dupT;VC=Intron;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/6PGD;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:29:4:16:2:11,16,2:356,513,65:0.00,50.97,4.79:0.00,5.10,-0.02:0.00,45.86,4.81:0.00,1.00,0.00:0.00,0.96,0.00:0.00,1.00,0.00:60,70,60:11.5,6.3,0.0:0,0,0:0,0,0:129,117,115:19,26,35:16,16,16:-,NM_002631.2(PGD) c.264+87_264+88insT:-,NOT_FOUND:-,NOT_FOUND 1 10462875 rs11121563 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.402,C/0.598;PC=0.001;Gene=PGD/NM_001304451.1/0;CC=c.265-1343T>C;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.265-253T>C;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.226-253T>C;VC=Intron;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/6PGD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:6:6:0:0:5,1:160,35:17.21,0.00:17.21,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:36.4,0.0:0,0:0,0:83,62:68,88:16,0:NM_002631.2(PGD) c.265-253T>C,-:0.59,-:NOT_FOUND,- 1 10463194 . G . . NT END=10464217;NT GT ./. 1 10464337 . G . . NT END=10468127;NT GT ./. 1 10465443 rs144597432 AAAAC A 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=85;PC=0.008;Gene=PGD/NM_001304451.1/0;CC=c.383+1115_383+1118delCAAA;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.449+1115_449+1118delCAAA;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.410+1115_410+1118delCAAA;VC=Intron;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/NAD_binding_2;DM=PGD/6PGD;DM=PGD/NAD_binding_2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:3:0:4:4:89:10.58:8.11:2.47:1.00:1.00:1.00:60:30.0:0:0:51:96:21:NM_002631.2(PGD) c.449+1108_449+1111delAAAC,NM_002631.2(PGD) c.449+1108_449+1111delAAAC:0.29,0.29:NOT_FOUND,NOT_FOUND 1 10468198 . G . . NT END=10471474;NT GT ./. 1 10471610 . G . . NT END=10473118;NT GT ./. 1 10471789 rs2236678 A T 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.6651,T/0.3349;PC=0.160;Gene=PGD/NM_001304451.1/0;CC=c.588+180A>T;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.654+180A>T;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.615+180A>T;VC=Intron;DM=PGD/6PGD;DM=PGD/6PGD;DM=PGD/6PGD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:25:0:0:0:12,13:395,387:0.00,37.34:0.00,0.00:0.00,37.34:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.7,37.0:0,0:0,0:124,86:26,65:11,19:-,NM_002631.2(PGD) c.654+180A>T:-,0.36:-,NOT_FOUND 1 10473196 rs2229687 C T 157 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.6649,G/.,T/0.3351;Gene=PGD/NM_001304451.1/0;CC=c.666C>T;ProtCh=p.D222=;VC=Silent;Gene=PGD/NM_002631.3/1;CC=c.732C>T;ProtCh=p.D244=;VC=Silent;Gene=PGD/NM_001304452.1/0;CC=c.693C>T;ProtCh=p.D231=;VC=Silent;DM=PGD/6PGD;DM=PGD/6PGD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:89:0:0:55,51:1800,1645:0.00,156.97:0.00,101.14:0.00,55.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,34.4:0,0:0,0:55,70:86,80:35,39:-,NM_002631.2(PGD) c.732C>T (p.(=)):-,0.36:-,0.32831 1 10473309 . G . . NT END=10477043;NT GT ./. 1 10477175 . G . . NT END=10477432;NT GT ./. 1 10477567 . G . . NT END=10478882;NT GT ./. 1 10478586 rs3762287 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6406,T/0.3594;PC=0.017;Gene=PGD/NM_001304451.1/0;CC=c.1044-297C>T;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.1110-297C>T;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.1071-297C>T;VC=Intron;DM=PGD/6PGD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:6:6:0:0:3,3:95,96:0.00,9.23:0.00,9.23:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:30.7,49.7:0,0:0,0:60,30:90,121:19,12:-,NM_002631.2(PGD) c.1110-297C>T:-,0.38:-,NOT_FOUND 1 10478727 rs3762286 G A 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6649,A/0.3351;PC=0.004;Gene=PGD/NM_001304451.1/0;CC=c.1044-156G>A;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.1110-156G>A;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.1071-156G>A;VC=Intron;DM=PGD/6PGD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,G:9:8:0:0:7,2:226,63:23.87,0.00:24.52,0.00:-0.65,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:36.9,0.0:0,0:0,0:105,50:46,100:36,37:NM_002631.2(PGD) c.1110-156G>A,-:0.36,-:NOT_FOUND,- 1 10478830 rs374818061 C CA 18 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=5;PC=0.592;Gene=PGD/NM_001304451.1/0;CC=c.1044-36_1044-35insA;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.1110-36_1110-35insA;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.1071-36_1071-35insA;VC=Intron;DM=PGD/6PGD;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:C,CA:11:10:7:0:5,6:173,216:0.00,18.25:0.00,16.23:0.00,2.02:0.00,0.98:0.00,0.95:0.00,0.89:60,60:8.0,18.7:0,1:0,0:98,48:35,103:18,22:-,NM_002631.2(PGD) c.1110-53_1110-52insA:-,NOT_FOUND:-,NOT_FOUND 1 10478983 . G . . NT END=10479473;NT GT ./. 1 10479231 rs70997228 A AT 20 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=46;PC=0.042;Gene=PGD/NM_001304451.1/0;CC=c.1144-227_1144-226insT;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.1210-227_1210-226insT;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.1171-227_1171-226insT;VC=Intron;DM=PGD/6PGD;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AT,D:19:16:7:1:10,1,7,1:312,10,219,33:0.00,0.14,20.21,2.27:0.00,-0.21,17.46,2.29:0.00,0.35,2.74,-0.02:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.77,0.00:60,60,60,60:40.7,144.0,46.4,63.0:0,1,0,0:0,0,0,0:112,126,35,11:25,25,115,140:28,0,24,0:-,NM_002631.2(PGD) c.1210-243_1210-242insT:-,NOT_FOUND:-,NOT_FOUND 1 10479597 . G . . NT END=10479686;NT GT ./. 1 10479635 rs2298570 C G 177 nt VT=SNV;PN=T;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.4822,A/.,G/0.5178;Gene=PGD/NM_001304451.1/0;CC=c.1266+39C>G;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.1332+39C>G;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.1293+39C>G;VC=Intron;DM=PGD/6PGD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:133:75:0:0:74,59:2386,1881:0.00,176.53:0.00,64.20:0.00,112.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,55.8:0,0:0,0:79,88:68,60:35,34:-,NM_002631.2(PGD) c.1332+39C>G:-,0.52:-,0.540366 1 10479678 rs1889309 G A 133 nt VT=SNV;PN=C;NN=T;SST=Single;DP=127;DB;DBA=NA;PAF=G/0.75,A/0.25,C/.;Gene=PGD/NM_001304451.1/0;CC=c.1267-9G>A;VC=Intron;Gene=PGD/NM_002631.3/1;CC=c.1333-9G>A;VC=Intron;Gene=PGD/NM_001304452.1/0;CC=c.1294-9G>A;VC=Intron;DM=PGD/6PGD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:127:80:0:0:48,1,78:1466,11,2471:133.12,-0.17,0.00:59.64,-0.13,0.00:73.48,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:62.1,97.0,4.6:0,0,0:0,0,0:82,124,63:65,23,82:42,0,29:NM_002631.2(PGD) c.1333-9G>A,-:0.28,-:0.252114,- 1 10479807 . T . . NT END=10490574;NT GT ./. 1 10490285 rs649639 T C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.406,C/0.594;Gene=APITD1/NM_199294.2/1;CC=c.-290T>C;VC=5UTR;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.-290T>C;VC=5UTR;Gene=APITD1-CORT/NM_198544.3/0;CC=c.-290T>C;VC=5UTR;Gene=APITD1-CORT/NM_199006.2/0;CC=c.-290T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,T:8:7:0:0:4,4:142,104:13.70,0.00:9.93,0.00:3.78,0.00:0.87,0.00:0.99,0.00:0.67,0.00:60,60:40.8,23.2:0,0:0,0:63,55:87,94:29,29:NM_198544.3(APITD1-CORT) c.-290T>C,-:0.56,-:NOT_FOUND,- 1 10490626 . G . . NT END=10490797;NT GT ./. 1 10490759 rs35995075 TTGGCTTAAC T 270 nt VT=DEL;SST=Single;DP=293;DB;DBA=NA;PAF=TTGGCTTAAC/0.4269,T/0.5731;DB;DBA=NA;PAF=TTGGCTTAAC/0.4269,T/0.5731;NP=26;Gene=APITD1/NM_199294.2/1;CC=c.51+137_51+145delGCTTAACTG;VC=Intron;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.51+137_51+145delGCTTAACTG;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.51+137_51+145delGCTTAACTG;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.51+137_51+145delGCTTAACTG;VC=Intron;DM=APITD1-CORT/CENP-S;DM=APITD1/CENP-S;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTGGCTTAAC,T:293:223:0:99:195,98:5979,3041:0.00,269.82:0.00,169.61:0.00,100.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,44.8:0,0:0,0:66,64:74,83:35,29:-,NM_198544.3(APITD1-CORT) c.51+135_51+143delTGGCTTAAC:-,0.54:-,NOT_FOUND 1 10490789 rs6662684 G C 364 nt VT=SNV;PN=A;NN=G;SST=Single;DP=337;DB;DBA=NA;PAF=G/0.7196,C/0.2804;PC=0.012;Gene=APITD1/NM_199294.2/1;CC=c.51+164G>C;VC=Intron;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.51+164G>C;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.51+164G>C;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.51+164G>C;VC=Intron;DM=APITD1-CORT/CENP-S;DM=APITD1/CENP-S GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:337:258:0:0:127,210:4001,6851:363.58,0.00:229.47,0.00:134.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.7,9.4:0,0:0,0:75,67:73,73:35,38:NM_198544.3(APITD1-CORT) c.51+164G>C,-:0.29,-:NOT_FOUND,- 1 10490881 rs481571 G A 492 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=403;DB;DBA=NA;PAF=G/0.4289,A/0.5711;PC=0.001;Gene=APITD1/NM_199294.2/1;CC=c.51+256G>A;VC=Intron;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.51+256G>A;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.51+256G>A;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.51+256G>A;VC=Intron;Gene=APITD1/NR_036462.1/0;VC=NonCoding;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.-466G>A;VC=5UTR;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding;DM=APITD1-CORT/CENP-S;DM=APITD1/CENP-S GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:403:273:0:0:172,2,228,1:5289,22,7505,10:492.16,-0.36,0.00,-0.18:265.97,-0.24,0.00,-0.10:226.19,-0.12,0.00,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:52.1,86.5,9.7,54.0:0,0,0,0:0,0,0,0:72,43,76,81:66,107,69,66:34,25,34,0:NM_198544.3(APITD1-CORT) c.51+256G>A,-:0.54,-:NOT_FOUND,- 1 10491459 . g . . NT END=10493898;NT GT ./. 1 10494023 . G . . NT END=10494713;NT GT ./. 1 10494748 . G . . NT END=10500403;NT GT ./. 1 10500471 . G . . NT END=10502321;NT GT ./. 1 10502030 rs186022062 T C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9978,C/0.002196;NP=2;PC=0.002;Gene=APITD1/NM_199294.2/1;CC=c.277-292T>C;VC=Intron;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.277-292T>C;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.276+1560T>C;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.209+7283T>C;VC=Intron;Gene=APITD1/NR_036462.1/0;VC=NonCoding;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.213+1560T>C;VC=Intron;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:C,T:9:9:0:0:5,4:163,115:16.01,0.00:16.01,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:36.2,4.8:0,0:0,0:87,49:62,100:37,29:NM_198544.3(APITD1-CORT) c.276+1560T>C,-:0.0018,-:NOT_FOUND,- 1 10502148 rs58692231 GA G 14 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GA/0.7047,G/0.2953;DB;DBA=NA;PAF=GA/0.7047,G/0.2953,GG/.;NP=191;PC=0.001;Gene=APITD1/NM_199294.2/1;CC=c.277-164delA;VC=Intron;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.277-164delA;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.276+1688delA;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.209+7411delA;VC=Intron;Gene=APITD1/NR_036462.1/0;VC=NonCoding;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.213+1688delA;VC=Intron;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:GA,G:19:19:0:5:14,5:451,160:0.00,13.63:0.00,13.63:0.00,0.00:0.00,0.86:0.00,0.86:0.00,0.00:60,60:20.6,5.4:0,0:0,0:41,22:110,129:35,19:-,NM_198544.3(APITD1-CORT) c.276+1679delA:-,NOT_FOUND:-,NOT_FOUND 1 10502307 rs397979185 AT A 350 rn VT=DEL;SST=Single;DP=108;DB;DBA=NA;PAF=AT/0.1591,A/0.8409;DB;DBA=NA;PAF=AT/0.1591,A/0.8409;NP=2926;PC=0.004;Gene=APITD1/NM_199294.2/1;CC=c.277-5delT;VC=Intron;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.277-5delT;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.276+1847delT;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.209+7570delT;VC=Intron;Gene=APITD1/NR_036462.1/0;VC=NonCoding;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.213+1847delT;VC=Intron;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:AT,A:108:93:0:100:8,100:210,3144:0.00,349.81:0.00,262.99:0.00,86.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.1,8.2:0,0:0,0:143,54:5,90:5,25:NM_198544.3(APITD1-CORT) c.276+1838delT,NM_198544.3(APITD1-CORT) c.276+1838delT:NOT_FOUND,NOT_FOUND:0.892503,0.892503 1 10502463 . A . . NT END=10510280;NT GT ./. 1 10502710 rs2847337 A G 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1793,G/0.8207;Gene=APITD1/NM_199294.2/1;CC=c.*248A>G;VC=3UTR;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.*36+212A>G;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.276+2240A>G;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.209+7963A>G;VC=Intron;Gene=APITD1/NR_036462.1/0;VC=NonCoding;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.213+2240A>G;VC=Intron;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:0:0:0:14:472:53.88:0.00:53.88:1.00:0.00:1.00:60:41.7:0:0:115:35:21:NM_199294.2(APITD1) c.*248A>G,NM_199294.2(APITD1) c.*248A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 10510380 . G . . NT END=10511433;NT GT ./. 1 10511330 rs3838398 AT A 87 idl,rn VT=DEL;SST=Single;DP=67;DB;DBA=NA;PAF=AT/0.5369,A/0.4631;NP=738;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.*37-93delT;VC=Intron;Gene=APITD1-CORT/NM_198544.3/0;CC=c.277-93delT;VC=Intron;Gene=APITD1-CORT/NM_199006.2/0;CC=c.210-93delT;VC=Intron;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.214-93delT;VC=Intron;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding;Gene=CORT/NM_001302.4/1;CC=c.100-93delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:66:66:1:32:35,1,30:1069,31,949:0.00,1.53,86.54:0.00,1.54,86.93:0.00,-0.01,-0.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.75:60,60,60:21.3,0.0,16.4:0,0,1:0,0,0:51,8,35:95,143,114:42,0,28:-,NM_001302.4(CORT) c.100-103delT:-,NOT_FOUND:-,NOT_FOUND 1 10511544 rs628462 C T 568 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=368;DB;DBA=NA;PAF=C/0.7125,T/0.2875;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.*147C>T;VC=3UTR;Gene=APITD1-CORT/NM_198544.3/0;CC=c.387C>T;ProtCh=p.A129=;VC=Silent;Gene=APITD1-CORT/NM_199006.2/0;CC=c.*86C>T;VC=3UTR;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.324C>T;ProtCh=p.A108=;VC=Silent;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding;Gene=CORT/NM_001302.4/1;CC=c.210C>T;ProtCh=p.A70=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:368:274:0:0:188,1,179:5986,10,5935:0.00,-0.21,568.43:0.00,-0.13,280.36:0.00,-0.08,288.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.1,121.0,61.2:0,0,0:0,0,0:69,72,74:78,69,66:30,0,31:-,NM_001302.4(CORT) c.210C>T (p.(=)):-,0.33:-,0.28966 1 10511589 rs666103 T C 1248 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=352;DB;DBA=NA;PAF=T/0.1324,C/0.8676;Gene=APITD1-CORT/NM_001270517.1/1;CC=c.*192T>C;VC=3UTR;Gene=APITD1-CORT/NM_198544.3/0;CC=c.432T>C;ProtCh=p.S144=;VC=Silent;Gene=APITD1-CORT/NM_199006.2/0;CC=c.*131T>C;VC=3UTR;Gene=APITD1-CORT/NM_001243768.1/0;CC=c.369T>C;ProtCh=p.S123=;VC=Silent;Gene=APITD1-CORT/NR_037187.1/0;VC=NonCoding;Gene=CORT/NM_001302.4/1;CC=c.255T>C;ProtCh=p.S85=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:352:229:0:0:350,1,1:10836,8,12:1247.55,0.02,0.00:529.38,0.02,0.00:718.17,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.5,53.0,90.0:0,0,0:0,0,0:98,144,119:46,7,32:31,0,0:NM_001302.4(CORT) c.255T>C (p.(=)),NM_001302.4(CORT) c.255T>C (p.(=)):0.88,0.88:0.926912,0.926912 1 10511653 . A . . NT END=10521546;NT GT ./. 1 10521939 . t . . NT END=10522466;NT GT ./. 1 10522190 rs10864457 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6084,T/0.3916;PC=0.077;Gene=DFFA/NM_004401.2/1;CC=c.784-431G>A;VC=Intron;Gene=DFFA/NM_213566.1/0;CC=c.*901G>A;VC=3UTR;DM=DFFA/DFF-C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:8:1:0:0:4,4:136,129:0.00,12.40:0.00,-0.30:0.00,12.70:0.00,0.87:0.00,0.67:0.00,0.99:60,60:0.0,32.2:0,0:0,0:114,115:36,35:20,7:-,NM_004401.2(DFFA) c.784-431G>A:-,0.35:-,NOT_FOUND 1 10522289 rs12065251 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8131,T/0.1869;PC=0.001;Gene=DFFA/NM_004401.2/1;CC=c.784-530G>A;VC=Intron;Gene=DFFA/NM_213566.1/0;CC=c.*802G>A;VC=3UTR;DM=DFFA/DFF-C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,G,T:11:10:0:0:4,1,6:132,18,189:0.00,1.09,18.81:0.00,1.13,19.16:0.00,-0.04,-0.34:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.70:60,60,60:3.0,75.0,49.7:0,0,0:0,0,0:28,10,6:122,141,144:13,0,4:-,NM_004401.2(DFFA) c.784-530G>A:-,0.18:-,NOT_FOUND 1 10523267 . C . . NT END=10523487;NT GT ./. 1 10523678 . C . . NT END=10527246;NT GT ./. 1 10523728 . C CT 16 idl,rn VT=INS;SST=Single;DP=66;PC=0.012;Gene=DFFA/NM_004401.2/1;CC=c.442-52_442-51insA;VC=Intron;Gene=DFFA/NM_213566.1/0;CC=c.442-52_442-51insA;VC=Intron;DM=DFFA/DFF-C;DM=DFFA/DFF-C;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,C,CT,D:65:22:8:6:1,51,7,6:9,1629,249,163:-0.22,0.00,15.55,10.83:-0.07,0.00,3.62,2.61:-0.15,0.00,11.93,8.23:0.00,0.00,0.89,0.00:0.00,0.00,0.83,0.00:0.00,0.00,0.99,0.00:60,60,60,60:31.0,12.4,41.0,23.7:0,0,1,0:0,0,0,0:73,112,90,117:77,37,55,33:0,24,13,4:-,NM_004401.2(DFFA) c.442-52_442-51insA:-,NOT_FOUND:-,NOT_FOUND 1 10523930 rs12729844 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8786,T/0.1214;PC=0.019;Gene=DFFA/NM_004401.2/1;CC=c.442-253G>A;VC=Intron;Gene=DFFA/NM_213566.1/0;CC=c.442-253G>A;VC=Intron;DM=DFFA/DFF-C;DM=DFFA/DFF-C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:0:0:0:4,3:134,96:0.00,8.96:0.00,0.00:0.00,8.96:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,54.7:0,0:0,0:94,110:57,40:20,18:-,NM_004401.2(DFFA) c.442-253G>A:-,0.12:-,NOT_FOUND 1 10527390 . C . . NT END=10529233;NT GT ./. 1 10527571 . AT A 11 rn VT=DEL;SST=Single;DP=19;NP=4;PC=0.001;Gene=DFFA/NM_004401.2/1;CC=c.299-183delA;VC=Intron;Gene=DFFA/NM_213566.1/0;CC=c.299-183delA;VC=Intron;DM=DFFA/DFF-C;DM=DFFA/DFF-C;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:AT,A:18:0:0:5:14,4:372,167:0.00,11.08:0.00,0.00:0.00,11.08:0.00,0.72:0.00,0.00:0.00,0.72:60,70:11.9,0.0:0,1:0,0:110,87:38,63:18,45:-,NM_004401.2(DFFA) c.299-183delA:-,NOT_FOUND:-,NOT_FOUND 1 10529194 rs2781233 T C 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6356,C/0.3644;Gene=DFFA/NM_004401.2/1;CC=c.298+40A>G;VC=Intron;Gene=DFFA/NM_213566.1/0;CC=c.298+40A>G;VC=Intron;DM=DFFA/DFF-C;DM=DFFA/DFF-C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:46:40:0:0:1,25,20:12,836,617:0.10,82.12,0.00:0.15,63.60,0.00:-0.05,18.51,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:52.0,42.7,11.0:0,0,0:0,0,0:135,48,57:16,102,93:0,22,18:NM_004401.2(DFFA) c.298+40A>G,-:0.41,-:0.414424,- 1 10529396 . C . . NT END=10532379;NT GT ./. 1 10532516 . C . . NT END=10535023;NT GT ./. 1 10535060 . G . . NT END=10555155;NT GT ./. 1 10555174 . G . . NT END=10555330;NT GT ./. 1 10555257 rs622623 C T 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.353,T/0.647;Gene=PEX14/NM_004565.2/1;CC=c.37-74C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:24:0:0:19,24:572,808:0.00,79.44:0.00,23.49:0.00,55.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,34.5:0,0:0,0:61,73:88,78:52,41:-,NM_004565.2(PEX14) c.37-74C>T:-,0.68:-,0.636224 1 10555379 . G . . NT END=10584462;NT GT ./. 1 10574213 rs71583876 CTG C 6 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;PC=0.001;Gene=PEX14/NM_004565.2/1;CC=c.84+18877_84+18878delGT;VC=Intron;DM=PEX14/Pex14_N;DM=PEX14/Pex14_N;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:CTG,I,C:6:6:2:2:2,2,2:46,30,67:0.00,2.57,6.35:0.00,1.22,4.65:0.00,1.35,1.70:0.00,0.00,0.42:0.00,0.00,0.42:0.00,0.00,0.63:60,60,60:62.5,10.0,10.5:0,0,0:0,0,0:28,28,43:102,108,90:5,20,6:-,NM_004565.2(PEX14) c.84+18836_84+18837delTG:-,NOT_FOUND:-,NOT_FOUND 1 10584541 . G . . NT END=10588307;NT GT ./. 1 10584672 rs2506887 G A 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2266,A/0.7734;PC=0.001;Gene=PEX14/NM_004565.2/1;CC=c.85-11598G>A;VC=Intron;DM=PEX14/Pex14_N;DM=PEX14/Pex14_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:141:16.01:0.00:16.01:1.00:0.00:1.00:60:43.8:0:0:101:48:5:NM_004565.2(PEX14) c.85-11598G>A,NM_004565.2(PEX14) c.85-11598G>A:0.81,0.81:NOT_FOUND,NOT_FOUND 1 10588417 . G . . NT END=10596269;NT GT ./. 1 10596341 rs12375 C T 22 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.772,T/0.228;PC=1.000;Gene=PEX14/NM_004565.2/1;CC=c.156C>T;ProtCh=p.F52=;VC=Silent;DM=PEX14/Pex14_N;DM=PEX14/Pex14_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:14:0:0:18,8:521,256:0.00,22.46:0.00,7.18:0.00,15.28:0.00,0.98:0.00,0.98:0.00,1.00:60,60:22.4,59.2:0,0:0,0:107,82:43,66:24,20:-,NM_004565.2(PEX14) c.156C>T (p.(=)):-,0.23:-,0.24927 1 10596355 . G . . NT END=10659294;NT GT ./. 1 10596388 rs2480779 A G 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.04732,G/0.9527;PC=0.016;Gene=PEX14/NM_004565.2/1;CC=c.169+34A>G;VC=Intron;DM=PEX14/Pex14_N;DM=PEX14/Pex14_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:8:0:0:17:576:65.67:18.30:47.38:1.00:1.00:1.00:60:50.5:0:0:121:21:14:NM_004565.2(PEX14) c.169+34A>G,NM_004565.2(PEX14) c.169+34A>G:0.96,0.96:0.958404,0.958404 1 10615699 rs71583878 A AGTGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=18;NP=4;NP=7;Gene=PEX14/NM_004565.2/1;CC=c.169+19370_169+19371insTGTG;VC=Intron;DM=PEX14/Pex14_N;DM=PEX14/Pex14_N;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,AGTGT:3:4:3:0:1,2:34,103:0.00,6.95:0.00,5.11:0.00,1.84:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,16.0:0,1:0,0:114,77:26,73:0,15:-,NM_004565.2(PEX14) c.169+19345_169+19346insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 10631739 rs7534954 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4093,A/0.5907;PC=0.002;Gene=PEX14/NM_004565.2/1;CC=c.170-27556G>A;VC=Intron;DM=PEX14/Pex14_N;DM=PEX14/Pex14_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:134:15.31:7.65:7.65:1.00:1.00:1.00:60:84.5:0:0:85:65:42:NM_004565.2(PEX14) c.170-27556G>A,NM_004565.2(PEX14) c.170-27556G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 10659424 . G . . NT END=10678388;NT GT ./. 1 10678475 . G . . NT END=10683075;NT GT ./. 1 10678655 rs284236 T C 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=820;Gene=PEX14/NM_004565.2/1;CC=c.384+181T>C;VC=Intron;DM=PEX14/Pex14_N;DM=PEX14/Pex14_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:390:45.20:0.00:45.20:1.00:0.00:1.00:60:32.8:0:0:127:24:16:NM_004565.2(PEX14) c.384+181T>C,NM_004565.2(PEX14) c.384+181T>C:1,1:NOT_FOUND,NOT_FOUND 1 10683179 . G . . NT END=10684396;NT GT ./. 1 10684495 . G . . NT END=10687328;NT GT ./. 1 10687421 . G . . NT END=10689587;NT GT ./. 1 10690045 . G . . NT END=10698998;NT GT ./. 1 10699162 . t . . NT END=10699355;NT GT ./. 1 10700117 . C . . NT END=10702915;NT GT ./. 1 10702814 rs35619052 G A 126 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=CASZ1/NM_001079843.2/1;CC=c.4162+102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:32:0:0:34:1100:126.17:106.68:19.48:1.00:1.00:1.00:60:48.7:0:0:55:96:37:NM_001079843.2(CASZ1) c.4162+102C>T,NM_001079843.2(CASZ1) c.4162+102C>T:0.14,0.14:NOT_FOUND,NOT_FOUND 1 10703058 . C . . NT END=10703216;NT GT ./. 1 10703369 . C . . NT END=10704973;NT GT ./. 1 10705146 . C . . NT END=10706184;NT GT ./. 1 10706384 . C . . NT END=10707262;NT GT ./. 1 10708197 . C . . NT END=10709126;NT GT ./. 1 10709043 . T C 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;Gene=CASZ1/NM_001079843.2/1;CC=c.3158+84A>G;VC=Intron;Gene=CASZ1/NM_017766.4/0;CC=c.3158+84A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:67:0:0:40,33:1242,1104:121.42,0.00:101.46,0.00:19.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,4.3:0,0:0,0:48,36:102,115:26,22:NM_001079843.2(CASZ1) c.3158+84A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 10709250 . C . . NT END=10709339;NT GT ./. 1 10709495 . C . . NT END=10710748;NT GT ./. 1 10710813 . C . . NT END=10710997;NT GT ./. 1 10711134 . C . . NT END=10713433;NT GT ./. 1 10713765 rs284294 T C 503 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.4549,C/0.5451;PC=1.000;Gene=CASZ1/NM_001079843.2/1;CC=c.2349A>G;ProtCh=p.S783=;VC=Silent;Gene=CASZ1/NM_017766.4/0;CC=c.2349A>G;ProtCh=p.S783=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:142:104:0:0:142:4359:502.76:314.17:188.59:1.00:1.00:1.00:60:42.4:0:0:74:72:36:NM_001079843.2(CASZ1) c.2349A>G (p.(=)),NM_001079843.2(CASZ1) c.2349A>G (p.(=)):0.51,0.51:0.586903,0.586903 1 10714276 . C . . NT END=10714475;NT GT ./. 1 10714436 rs35604552 C T 351 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.8762,T/0.1238;Gene=CASZ1/NM_001079843.2/1;CC=c.1838+40G>A;VC=Intron;Gene=CASZ1/NM_017766.4/0;CC=c.1838+40G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:95:54:0:0:95:3061:351.23:181.31:169.92:1.00:1.00:1.00:60:41.1:0:0:72:79:42:NM_001079843.2(CASZ1) c.1838+40G>A,NM_001079843.2(CASZ1) c.1838+40G>A:0.14,0.14:0.195525,0.195525 1 10714649 . C . . NT END=10715705;NT GT ./. 1 10715871 . C . . NT END=10716702;NT GT ./. 1 10716794 . C . . NT END=10718564;NT GT ./. 1 10718634 . C . . NT END=10719758;NT GT ./. 1 10719645 rs475980 A G 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4597,G/0.5403;Gene=CASZ1/NM_001079843.2/1;CC=c.1340+114T>C;VC=Intron;Gene=CASZ1/NM_017766.4/0;CC=c.1340+114T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:17:0:0:17:580:66.11:66.11:0.00:1.00:1.00:0.00:60:40.3:0:0:40:111:17:NM_001079843.2(CASZ1) c.1340+114T>C,NM_001079843.2(CASZ1) c.1340+114T>C:0.51,0.51:NOT_FOUND,NOT_FOUND 1 10720594 . C . . NT END=10725139;NT GT ./. 1 10725629 . C . . NT END=10753930;NT GT ./. 1 10753970 . C . . NT END=10754353;NT GT ./. 1 10754403 . A . . NT END=11007719;NT GT ./. 1 10754641 . C CCCG 9 rn VT=INS;SST=Single;DP=17;PC=0.489;Gene=CASZ1/NM_001079843.2/1;CC=c.-23-673_-23-672insCGG;VC=Intron;Gene=CASZ1/NM_017766.4/0;CC=c.-23-673_-23-672insCGG;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,CCCG,D:17:14:4:1:12,4,1:377,107,4:0.00,8.70,-0.23:0.00,4.53,-0.04:0.00,4.18,-0.20:0.00,0.74,0.00:0.00,0.95,0.00:0.00,0.97,0.00:60,60,4:20.8,7.5,0.0:0,0,0:0,0,0:79,38,28:47,59,42:35,15,0:-,NM_001079843.2(CASZ1) c.-23-673_-23-672insCGG:-,NOT_FOUND:-,NOT_FOUND 1 11008902 . C . . NT END=11009680;NT GT ./. 1 11009872 . C . . NT END=11014075;NT GT ./. 1 11014200 . C . . NT END=11015046;NT GT ./. 1 11015244 . C . . NT END=11017079;NT GT ./. 1 11017165 . C . . NT END=11017641;NT GT ./. 1 11017811 . C . . NT END=11018770;NT GT ./. 1 11018580 rs72644034 G A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9974,A/0.002596;NP=7;Gene=C1orf127/NM_001170754.1/1;CC=c.555+191C>T;VC=Intron;DM=C1orf127/DUF4556;DM=C1orf127/DUF4556 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,G:4:4:0:0:3,1:98,25:10.26,0.00:10.26,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:39.7,0.0:0,0:0,0:43,7:108,143:24,0:NM_001170754.1(C1orf127) c.555+191C>T,-:0.0046,-:NOT_FOUND,- 1 11018810 . C . . NT END=11024184;NT GT ./. 1 11018916 rs150346595 G A 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.995,A/0.004992;NP=18;Gene=C1orf127/NM_001170754.1/1;CC=c.517-107C>T;VC=Intron;DM=C1orf127/DUF4556;DM=C1orf127/DUF4556 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:6:0:0:9,9:290,272:27.89,0.00:4.81,0.00:23.07,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:32.2,30.2:0,0:0,0:111,101:40,50:27,20:NM_001170754.1(C1orf127) c.517-107C>T,-:0.01,-:NOT_FOUND,- 1 11024329 . C . . NT END=11026414;NT GT ./. 1 11026381 . TA T 15 idl,rn VT=DEL;SST=Single;DP=54;NP=9;PC=0.002;Gene=C1orf127/NM_001170754.1/1;CC=c.372+33delT;VC=Intron;DM=C1orf127/DUF4556;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G,TA,I,T:54:45:5:6:4,1,38,5,6:107,12,1092,140,194:6.97,-0.05,0.00,9.64,14.61:3.22,0.04,0.00,7.75,12.34:3.75,-0.09,0.00,1.89,2.27:0.00,0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.00,0.84:60,60,60,60,60:42.8,73.0,21.3,38.4,1.7:1,0,0,0,0:0,0,0,0,0:59,145,42,51,58:88,5,104,95,90:23,0,27,40,22:-,NM_001170754.1(C1orf127) c.372+33delT:-,NOT_FOUND:-,0.058646 1 11026540 . C . . NT END=11030026;NT GT ./. 1 11030147 . C . . NT END=11036212;NT GT ./. 1 11036314 . C . . NT END=11042068;NT GT ./. 1 11042095 . C . . NT END=11073784;NT GT ./. 1 11074024 . T . . NT END=11076900;NT GT ./. 1 11074250 rs3765895 A G 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1546,G/0.8454;Gene=TARDBP/NM_007375.3/1;CC=c.238+228A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:240:27.34:0.00:27.34:1.00:0.00:1.00:60:36.7:0:0:92:59:12:NM_007375.3(TARDBP) c.238+228A>G,NM_007375.3(TARDBP) c.238+228A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 11077065 . G . . NT END=11078789;NT GT ./. 1 11077259 rs61443822 CT C 19 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CT/0.3239,C/0.6761;DB;DBA=NA;PAF=CT/0.3239,C/0.6761;NP=5;PC=0.004;Gene=TARDBP/NM_007375.3/1;CC=c.402+213delT;VC=Intron;DM=TARDBP/RRM_1;DM=TARDBP/RRM_1;DM=TARDBP/RRM_1;DM=TARDBP/RRM_1;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:19:2:1:8:11,1,7:353,32,235:0.00,2.13,18.79:0.00,-0.03,-0.28:0.00,2.17,19.07:0.00,0.00,0.97:0.00,0.00,0.65:0.00,0.00,1.00:60,60,60:18.3,54.0,13.0:0,0,1:0,0,0:141,79,107:10,72,39:9,0,12:-,NM_007375.3(TARDBP) c.402+196delT:-,NOT_FOUND:-,NOT_FOUND 1 11078932 . T . . NT END=11080485;NT GT ./. 1 11079077 rs2273348 A G 110 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4141,G/0.5859;PC=0.013;Gene=TARDBP/NM_007375.3/1;CC=c.543+147A>G;VC=Intron;DM=TARDBP/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:1:0:0:29:966:110.43:3.18:107.25:1.00:1.00:1.00:60:35.4:0:0:124:27:22:NM_007375.3(TARDBP) c.543+147A>G,NM_007375.3(TARDBP) c.543+147A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 11080658 . T . . NT END=11082180;NT GT ./. 1 11080723 rs397979211 T TG 125 nt VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.08466,TG/0.9153;DB;DBA=NA;PAF=T/0.08466,TG/0.9153;NP=3238;PC=0.004;Gene=TARDBP/NM_007375.3/1;CC=c.714+69_714+70insG;VC=Intron;DM=TARDBP/RRM_1;DM=TARDBP/RRM_1;DM=TARDBP/RRM_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:T,TG:40:10:36:0:4,36:125,1135:0.00,125.02:0.00,22.14:0.00,102.88:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,12.5:0,0:0,0:147,108:1,40:1,30:-,NM_007375.3(TARDBP) c.714+67_714+68insG:-,0.89:-,NOT_FOUND 1 11082054 rs3835416 AG A 87 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=AG/0.4155,A/0.5845;NP=2059;PC=0.001;Gene=TARDBP/NM_007375.3/1;CC=c.715-126delG;VC=Intron;DM=TARDBP/RRM_1;DM=TARDBP/RRM_1;DM=TARDBP/RRM_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:AG,A:26:25:0:25:1,25:26,769:0.00,86.97:0.00,83.71:0.00,3.26:0.00,1.00:0.00,1.00:0.00,0.97:60,60:0.0,10.9:0,0:0,0:148,41:1,110:0,16:NM_007375.3(TARDBP) c.715-126delG,NM_007375.3(TARDBP) c.715-126delG:0.62,0.62:NOT_FOUND,NOT_FOUND 1 11083306 . A . . NT END=11086941;NT GT ./. 1 11086717 rs1033638 A G 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2903,G/0.7097;Gene=MASP2/NM_006610.3/1;CC=c.*225T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:207:24.01:24.01:0.00:1.00:1.00:0.00:60:52.7:0:0:91:60:40:NM_006610.3(MASP2) c.*225T>C,NM_006610.3(MASP2) c.*225T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 11087524 rs1782455 G A 327 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.3125,A/0.6875;Gene=MASP2/NM_006610.3/1;CC=c.1479C>T;ProtCh=p.S493=;VC=Silent;DM=MASP2/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:85:53:0:0:85:2861:326.61:159.59:167.02:1.00:1.00:1.00:60:39.5:0:0:62:83:30:NM_006610.3(MASP2) c.1479C>T (p.(=)),NM_006610.3(MASP2) c.1479C>T (p.(=)):0.71,0.71:0.673151,0.673151 1 11087706 . C . . NT END=11090232;NT GT ./. 1 11087835 rs1782454 T C 96 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.1627,C/0.8373;Gene=MASP2/NM_006610.3/1;CC=c.1298-130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:0:0:0:27:830:95.81:0.00:95.81:1.00:0.00:1.00:60:34.7:0:0:88:63:52:NM_006610.3(MASP2) c.1298-130A>G,NM_006610.3(MASP2) c.1298-130A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 11090308 . C . . NT END=11090804;NT GT ./. 1 11090916 rs12711521 C A 327 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.4187,A/0.5813;PC=0.143;Gene=MASP2/NM_006610.3/1;CC=c.1111G>T;ProtCh=p.D371Y;VC=Missense;DM=MASP2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:91:44:0:0:90,1:2842,12:326.52,0.17:105.58,0.00:220.94,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,23.0:0,0:0,0:71,78:68,73:35,0:NM_006610.3(MASP2) c.1111G>T (p.Asp371Tyr),NM_006610.3(MASP2) c.1111G>T (p.Asp371Tyr):0.63,0.63:0.629786,0.629786 1 11090940 . C . . NT END=11094884;NT GT ./. 1 11093894 rs12755574 G A 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4265,A/0.5735;PC=0.041;Gene=MASP2/NM_006610.3/1;CC=c.1087+991C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:110:12.86:12.86:0.00:1.00:1.00:0.00:70:56.8:0:0:20:123:6:NM_006610.3(MASP2) c.1087+991C>T,NM_006610.3(MASP2) c.1087+991C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 11094014 rs200631405 ACACACACACTCT A 8 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=220;PC=0.013;Gene=MASP2/NM_006610.3/1;CC=c.1087+859_1087+870delAGAGTGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:ACACACACACTCT,A:5:4:0:4:2,3:68,76:0.00,7.56:0.00,2.46:0.00,5.10:0.00,0.78:0.00,0.97:0.00,0.94:60,70:17.0,61.0:0,0:0,0:128,108:6,22:17,9:-,NM_006610.3(MASP2) c.1087+859_1087+870delAGAGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 11094665 rs11121684 G A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3964,A/0.6036;PC=0.405;Gene=MASP2/NM_006610.3/1;CC=c.1087+220C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:186:21.46:21.46:0.00:1.00:1.00:0.00:60:47.7:0:0:55:95:23:NM_006610.3(MASP2) c.1087+220C>T,NM_006610.3(MASP2) c.1087+220C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11094757 rs70977538 G GA 19 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=68;PC=0.005;Gene=MASP2/NM_006610.3/1;CC=c.1087+127_1087+128insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,GA,D:11:15:9:2:4,6,1:112,284,57:0.00,18.99,2.48:0.00,18.99,2.48:0.00,0.00,0.00:0.00,0.96,0.00:0.00,0.96,0.00:0.00,0.00,0.00:60,60,60:27.0,22.3,25.0:0,3,1:0,0,0:36,77,70:115,74,78:33,22,4:-,NM_006610.3(MASP2) c.1087+127_1087+128insT:-,NOT_FOUND:-,NOT_FOUND 1 11094964 . C . . NT END=11097749;NT GT ./. 1 11095039 rs6695096 C T 102 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.1575,T/0.8425;Gene=MASP2/NM_006610.3/1;CC=c.1009-76G>A;VC=Intron;DM=MASP2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:8:0:0:29:879:101.65:20.02:81.62:1.00:1.00:1.00:60:36.9:0:0:120:31:24:NM_006610.3(MASP2) c.1009-76G>A,NM_006610.3(MASP2) c.1009-76G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 11097869 . C . . NT END=11102931;NT GT ./. 1 11103080 . C . . NT END=11103395;NT GT ./. 1 11103593 . C . . NT END=11104854;NT GT ./. 1 11104676 rs3765901 G A 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4223,A/0.5777;Gene=MASP2/NM_006610.3/1;CC=c.544+789C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:A:7:7:0:0:7:181:21.28:21.28:0.00:1.00:1.00:0.00:60:58.9:0:0:76:73:21:NM_006610.3(MASP2) c.544+789C>T,NM_006610.3(MASP2) c.544+789C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 11104712 rs3819991 G A 55 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3181,A/0.6819;Gene=MASP2/NM_006610.3/1;CC=c.544+753C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:477:54.81:52.82:1.99:1.00:1.00:1.00:60:51.1:0:0:33:118:14:NM_006610.3(MASP2) c.544+753C>T,NM_006610.3(MASP2) c.544+753C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 11104845 rs9430347 T C 233 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.1538,C/0.8462;PC=0.003;Gene=MASP2/NM_006610.3/1;CC=c.544+620A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C:63:54:0:0:63:2035:233.39:157.33:76.05:1.00:1.00:1.00:60:48.9:0:0:51:93:26:NM_006610.3(MASP2) c.544+620A>G,NM_006610.3(MASP2) c.544+620A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 11105011 . C . . NT END=11105464;NT GT ./. 1 11105106 rs2273345 C T 112 nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.4225,T/0.5775;Gene=MASP2/NM_006610.3/1;CC=c.544+359G>A;VC=Intron;Gene=MASP2/NM_139208.2/0;CC=c.545-96G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:T:32:10:0:0:32:970:112.16:20.70:91.46:1.00:1.00:1.00:60:63.4:0:0:107:36:26:NM_006610.3(MASP2) c.544+359G>A,NM_006610.3(MASP2) c.544+359G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 11105122 rs2273344 C T 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.1565,T/0.8435;Gene=MASP2/NM_006610.3/1;CC=c.544+343G>A;VC=Intron;Gene=MASP2/NM_139208.2/0;CC=c.545-112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:8:0:0:26:820:94.35:19.10:75.25:1.00:1.00:1.00:60:75.1:0:0:108:41:26:NM_006610.3(MASP2) c.544+343G>A,NM_006610.3(MASP2) c.544+343G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 11105597 . C . . NT END=11106612;NT GT ./. 1 11106666 rs72550870 T C 132 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=106;DB;DBA=in-clinvar;PAF=T/0.988,C/0.01198;PC=1.000;Gene=MASP2/NM_006610.3/1;CC=c.359A>G;ProtCh=p.D120G;VC=Missense;Gene=MASP2/NM_139208.2/0;CC=c.359A>G;ProtCh=p.D120G;VC=Missense;DM=MASP2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:106:84:0:0:1,43,62:11,1426,1970:-0.13,132.24,0.00:-0.03,87.50,0.00:-0.10,44.73,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:164.0,44.7,3.3:0,0,0:0,0,0:121,86,58:28,60,87:0,37,36:NM_006610.3(MASP2) c.359A>G (p.Asp120Gly),-:0.02,-:0.021067,- 1 11106791 . C . . NT END=11106947;NT GT ./. 1 11107177 . C . . NT END=11107259;NT GT ./. 1 11107265 . G . . NT END=11114921;NT GT ./. 1 11107439 rs7548659 G T 155 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.4257,T/0.5743;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:T:41:0:0:0:41:1354:154.91:0.00:154.91:1.00:0.00:1.00:60:36.3:0:0:106:45:31:NM_006610.3(MASP2) c.-32-u143C>A,NM_006610.3(MASP2) c.-32-u143C>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 11114943 . C . . NT END=11115018;NT GT ./. 1 11115142 . C . . NT END=11115837;NT GT ./. 1 11115177 rs376653450 CT C 27 idl,rn VT=DEL;SST=Single;DP=135;DB;DBA=NA;PAF=NA;PC=0.537;Gene=SRM/NM_003132.2/1;CC=c.766-37delA;VC=Intron;DM=SRM/Spermine_synth;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,CT,T,I,C:124:68:12:23:1,99,3,8,13:11,2940,56,363,599:-0.21,0.00,1.76,15.41,26.87:-0.11,0.00,-0.35,0.28,7.99:-0.10,0.00,2.10,15.13,18.89:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:161.0,28.1,74.7,53.8,43.2:0,1,1,4,7:0,0,0,0,0:75,107,42,94,76:64,26,109,49,71:0,23,18,25,30:-,NM_003132.2(SRM) c.766-37delA:-,NOT_FOUND:-,NOT_FOUND 1 11115323 . AT A 7 rn VT=DEL;SST=Single;DP=28;PC=0.003;Gene=SRM/NM_003132.2/1;CC=c.766-183delA;VC=Intron;DM=SRM/Spermine_synth;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:AT,C,T,I,A:27:1:1:4:21,1,1,1,3:646,10,33,33,132:0.00,-0.05,2.00,2.00,7.39:0.00,-0.01,-0.01,-0.01,-0.02:0.00,-0.04,2.01,2.01,7.42:0.00,0.00,0.00,0.00,0.44:0.00,0.00,0.00,0.00,0.41:0.00,0.00,0.00,0.00,0.44:60,60,60,60,60:20.2,91.0,56.0,0.0,0.0:0,0,0,0,1:0,0,0,0,0:111,87,115,93,87:38,64,34,58,62:26,0,0,0,30:-,NM_003132.2(SRM) c.766-183delA:-,NOT_FOUND:-,NOT_FOUND 1 11115984 . C . . NT END=11116067;NT GT ./. 1 11116152 . C . . NT END=11116660;NT GT ./. 1 11116815 . C . . NT END=11118856;NT GT ./. 1 11118950 . C . . NT END=11119281;NT GT ./. 1 11119135 rs743577 G A 135 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.4587,A/0.5413;Gene=SRM/NM_003132.2/1;CC=c.288+147C>T;VC=Intron;DM=SRM/Spermine_synth;DM=SRM/Spermine_synth;DM=SRM/Spermine_synth GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:22:0:0:36:1176:134.77:82.49:52.28:1.00:1.00:1.00:60:40.5:0:0:80:69:33:NM_003132.2(SRM) c.288+147C>T,NM_003132.2(SRM) c.288+147C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 11119403 . C . . NT END=11119833;NT GT ./. 1 11119899 rs7545802 T C 390 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;NP=1970;PC=0.735;Gene=SRM/NM_003132.2/1;CC=c.102A>G;ProtCh=p.S34=;VC=Silent;DM=SRM/Spermine_synth;DM=SRM/Spermine_synth;DM=SRM/Spermine_synth GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:107:75:0:0:107:3398:390.44:226.60:163.84:1.00:1.00:1.00:60:44.0:0:0:46:98:27:NM_003132.2(SRM) c.102A>G (p.(=)),NM_003132.2(SRM) c.102A>G (p.(=)):1,1:NOT_FOUND,NOT_FOUND 1 11120001 . g . . NT END=11126774;NT GT ./. 1 11126490 rs2748879 A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3942,G/0.6058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:170:19.83:19.83:0.00:1.00:1.00:0.00:60:107.3:0:0:55:95:37:NM_003132.2(SRM) c.-91-u6399T>C,NM_003132.2(SRM) c.-91-u6399T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 1 11126517 rs2791660 C T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3938,T/0.6062;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:187:21.56:21.56:0.00:1.00:1.00:0.00:60:106.3:0:0:64:86:23:NM_003132.2(SRM) c.-91-u6426G>A,NM_003132.2(SRM) c.-91-u6426G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 11126569 rs2791659 C A 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.394,A/0.606 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:0:13:410:47.19:47.19:0.00:1.00:1.00:0.00:60:73.5:0:0:42:109:33:NM_003132.2(SRM) c.-91-u6478G>T,NM_003132.2(SRM) c.-91-u6478G>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11126806 . C . . NT END=11128064;NT GT ./. 1 11126941 rs6701726 C T 109 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.394,T/0.606;Gene=EXOSC10/NM_001001998.2/1;CC=c.2628-136G>A;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2553-136G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:1:0:0:30:952:109.43:1.94:107.49:1.00:1.00:1.00:60:42.2:0:0:80:69:30:NM_001001998.1(EXOSC10) c.2628-136G>A,NM_001001998.1(EXOSC10) c.2628-136G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11127871 rs2791658 A G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3936,G/0.6064;PC=0.005;Gene=EXOSC10/NM_001001998.2/1;CC=c.2627+194T>C;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2552+194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:227:26.04:26.04:0.00:1.00:1.00:0.00:60:53.1:0:0:85:64:30:NM_001001998.1(EXOSC10) c.2627+194T>C,NM_001001998.1(EXOSC10) c.2627+194T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11128001 rs2791657 A G 117 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.3928,G/0.6072;Gene=EXOSC10/NM_001001998.2/1;CC=c.2627+64T>C;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2552+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:31:0:0:34:1010:117.11:90.33:26.79:1.00:1.00:1.00:60:45.7:0:0:27:123:22:NM_001001998.1(EXOSC10) c.2627+64T>C,NM_001001998.1(EXOSC10) c.2627+64T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11128142 . C . . NT END=11128701;NT GT ./. 1 11128329 rs2791656 A G 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2853,G/0.7147;Gene=EXOSC10/NM_001001998.2/1;CC=c.2551-188T>C;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2476-188T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:1:0:0:9:289:33.19:3.68:29.51:1.00:1.00:1.00:60:53.6:0:0:98:52:29:NM_001001998.1(EXOSC10) c.2551-188T>C,NM_001001998.1(EXOSC10) c.2551-188T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 11128654 rs2791655 G A 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4097,A/0.5903,T/.;Gene=EXOSC10/NM_001001998.2/1;CC=c.2550+48C>T;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2475+48C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:20:0:0:22:699:80.36:65.54:14.81:1.00:1.00:1.00:60:44.1:0:0:74:77:23:NM_001001998.1(EXOSC10) c.2550+48C>T,NM_001001998.1(EXOSC10) c.2550+48C>T:0.64,0.64:0.566508,0.566508 1 11128764 . C . . NT END=11129615;NT GT ./. 1 11129317 rs2791654 G A 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4281,A/0.5719;Gene=EXOSC10/NM_001001998.2/1;CC=c.2488+299C>T;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2413+299C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:146:16.98:16.98:0.00:1.00:1.00:0.00:60:113.4:0:0:34:98:29:NM_001001998.1(EXOSC10) c.2488+299C>T,NM_001001998.1(EXOSC10) c.2488+299C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 11129434 rs2748878 T C 79 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.394,C/0.606;Gene=EXOSC10/NM_001001998.2/1;CC=c.2488+182A>G;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2413+182A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:21:0:0:21:687:78.71:78.71:0.00:1.00:1.00:0.00:60:80.6:0:0:59:92:33:NM_001001998.1(EXOSC10) c.2488+182A>G,NM_001001998.1(EXOSC10) c.2488+182A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11129437 rs2748877 T C 81 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.394,C/0.606;Gene=EXOSC10/NM_001001998.2/1;CC=c.2488+179A>G;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2413+179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:21:0:0:21:711:81.07:81.07:0.00:1.00:1.00:0.00:60:80.6:0:0:62:89:33:NM_001001998.1(EXOSC10) c.2488+179A>G,NM_001001998.1(EXOSC10) c.2488+179A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11129788 . C . . NT END=11130956;NT GT ./. 1 11129848 rs2791653 A G 240 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.2736,G/0.7264;Gene=EXOSC10/NM_001001998.2/1;CC=c.2317-61T>C;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2242-61T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:C,G:65:22:0:0:1,64:9,2095:0.11,239.55:0.00,52.71:0.11,186.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:163.0,42.9:0,0:0,0:91,99:35,51:0,27:NM_001001998.1(EXOSC10) c.2317-61T>C,NM_001001998.1(EXOSC10) c.2317-61T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 11131046 . C . . NT END=11132143;NT GT ./. 1 11131923 rs58280885 CCAA C 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CCAA/0.4587,C/0.5413;DB;DBA=NA;PAF=CCAA/0.4587,C/0.5413;NP=963;Gene=EXOSC10/NM_001001998.2/1;CC=c.2242+218_2242+220delTTG;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2167+218_2167+220delTTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:4:4:129:14.81:14.81:0.00:1.00:1.00:0.00:70:0.0:0:0:65:84:39:NM_001001998.1(EXOSC10) c.2242+218_2242+220delTTG,NM_001001998.1(EXOSC10) c.2242+218_2242+220delTTG:0.6,0.6:NOT_FOUND,NOT_FOUND 1 11132217 rs1130683 G A 145 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.3938,A/0.6062;PC=0.012;Gene=EXOSC10/NM_001001998.2/1;CC=c.2169C>T;ProtCh=p.R723=;VC=Silent;Gene=EXOSC10/NM_002685.3/0;CC=c.2094C>T;ProtCh=p.R698=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:21:0:0:41:1256:145.04:62.17:82.87:1.00:1.00:1.00:60:37.6:0:0:95:54:26:NM_001001998.1(EXOSC10) c.2169C>T (p.(=)),NM_001001998.1(EXOSC10) c.2169C>T (p.(=)):0.65,0.65:0.585883,0.585883 1 11132229 . C . . NT END=11133990;NT GT ./. 1 11132541 rs2791650 G C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.394,C/0.606;Gene=EXOSC10/NM_001001998.2/1;CC=c.2158-313C>G;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2083-313C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:57.5:0:0:117:33:27:NM_001001998.1(EXOSC10) c.2158-313C>G,NM_001001998.1(EXOSC10) c.2158-313C>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 11133956 rs377479487 A G 45 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=24;NP=28;NP=42;NP=5;NP=673;PC=1.000;Gene=EXOSC10/NM_001001998.2/1;CC=c.2157+35T>C;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2082+332T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G,I:24:23:7:0:7,15,2:132,446,194:0.00,45.28,3.73:0.00,23.74,3.73:0.00,21.54,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:21.3,48.6,64.5:0,0,5:0,0,0:114,6,54:2,137,97:18,4,25:-,NM_001001998.1(EXOSC10) c.2157+35T>C:-,NOT_FOUND:-,NOT_FOUND 1 11134066 . C . . NT END=11134287;NT GT ./. 1 11134157 rs2748876 T G 149 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=EXOSC10/NM_001001998.2/1;CC=c.2083-92A>C;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.2082+131A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:G:41:12:0:0:41:1295:148.98:36.90:112.07:1.00:1.00:1.00:60:37.8:0:0:99:52:32:NM_001001998.1(EXOSC10) c.2083-92A>C,NM_001001998.1(EXOSC10) c.2083-92A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 11134384 . C . . NT END=11136898;NT GT ./. 1 11134470 rs368062216 A AT 10 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1;NP=10;Gene=EXOSC10/NM_001001998.2/1;CC=c.1987-88_1987-87insA;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1987-88_1987-87insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,AT,D:22:2:4:1:17,4,1:397,122,33:0.00,9.69,2.10:0.00,-0.13,-0.03:0.00,9.82,2.13:0.00,0.70,0.00:0.00,0.44,0.00:0.00,0.96,0.00:60,60,60:21.7,18.2,0.0:0,0,0:0,0,0:100,87,130:50,62,21:32,20,0:-,NM_001001998.1(EXOSC10) c.1987-88_1987-87insA:-,NOT_FOUND:-,NOT_FOUND 1 11137006 . C . . NT END=11137386;NT GT ./. 1 11137501 . C . . NT END=11137657;NT GT ./. 1 11137709 . C . . NT END=11139767;NT GT ./. 1 11137778 rs2259886 C T 166 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.4667,T/0.5333;Gene=EXOSC10/NM_001001998.2/1;CC=c.1750-70G>A;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1750-70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:12:0:0:44:1452:166.18:29.81:136.36:1.00:1.00:1.00:60:44.3:0:0:100:50:28:NM_001001998.1(EXOSC10) c.1750-70G>A,NM_001001998.1(EXOSC10) c.1750-70G>A:0.59,0.59:0.555629,0.555629 1 11139880 . C . . NT END=11140555;NT GT ./. 1 11140607 . C . . NT END=11140757;NT GT ./. 1 11140620 rs70977543 AACAC A 149 idl,rn VT=DEL;SST=Single;DP=142;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=229;PC=0.001;Gene=EXOSC10/NM_001001998.2/1;CC=c.1587-18_1587-15delGTGT;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1587-18_1587-15delGTGT;VC=Intron;DM=EXOSC10/HRDC;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AACAC,A:134:110:0:60:82,52:2617,1895:0.00,149.05:0.00,83.41:0.00,65.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.9,22.8:37,8:0,0:112,69:31,78:19,18:-,NM_001001998.1(EXOSC10) c.1587-18_1587-15delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 11140621 rs58972264 AC A 68 idl,nt VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=16;PC=0.004;Gene=EXOSC10/NM_001001998.2/1;CC=c.1587-16delG;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1587-16delG;VC=Intron;DM=EXOSC10/HRDC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:58:53:0:112:35,23:1111,1182:0.00,68.19:0.00,43.08:0.00,25.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.6,38.1:0,15:0,0:129,93:20,48:10,17:-,NM_001001998.1(EXOSC10) c.1587-16delG:-,NOT_FOUND:-,NOT_FOUND 1 11140622 rs9430364 C A 99 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.391,A/0.609;NP=91;PC=0.004;Gene=EXOSC10/NM_001001998.2/1;CC=c.1587-16G>T;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1587-16G>T;VC=Intron;DM=EXOSC10/HRDC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:A,C:32:20:0:113:28,4:906,115:98.72,0.00:53.78,0.00:44.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.0,45.2:0,0:0,0:124,131:22,14:9,5:NM_001001998.1(EXOSC10) c.1587-16G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 11140624 rs61773685 C A 16 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=30;PC=0.001;Gene=EXOSC10/NM_001001998.2/1;CC=c.1587-18G>T;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1587-18G>T;VC=Intron;DM=EXOSC10/HRDC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,C,G:45:32:0:97:7,37,1:215,1140,12:16.49,0.00,-0.06:10.02,0.00,0.08:6.47,0.00,-0.14:0.93,0.00,0.00:0.98,0.00,0.00:0.94,0.00,0.00:60,60,60:27.7,50.9,33.0:7,7,0:0,0,0:101,124,133:27,23,17:15,11,0:NM_001001998.1(EXOSC10) c.1587-18G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 11140626 rs61773686 C A 157 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=11;Gene=EXOSC10/NM_001001998.2/1;CC=c.1587-20G>T;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1587-20G>T;VC=Intron;DM=EXOSC10/HRDC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:95:69:0:34:50,45:1614,1376:156.74,0.00:79.68,0.00:77.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:22.2,47.0:50,14:0,0:74,125:71,21:20,12:NM_001001998.1(EXOSC10) c.1587-20G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 11140628 . C A 26 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=132;Gene=EXOSC10/NM_001001998.2/1;CC=c.1587-22G>T;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1587-22G>T;VC=Intron;DM=EXOSC10/HRDC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,C:132:97:0:6:11,121:367,3936:25.52,0.00:14.04,0.00:11.48,0.00:0.98,0.00:1.00,0.00:0.99,0.00:60,60:14.0,35.1:11,84:0,0:57,89:92,50:22,28:NM_001001998.1(EXOSC10) c.1587-22G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 11140685 rs566652443 CCAGT C 149 nt VT=DEL;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=7;Gene=EXOSC10/NM_001001998.2/1;CC=c.1587-83_1587-80delACTG;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.1587-83_1587-80delACTG;VC=Intron;DM=EXOSC10/HRDC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CCAGT,C:125:59:0:57:1,67,57:9,2046,1593:-0.17,0.00,149.23:-0.08,0.00,58.70:-0.09,0.00,90.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.0,21.9,19.7:0,0,0:0,0,0:54,92,73:97,59,78:0,36,29:-,NM_001001998.1(EXOSC10) c.1587-83_1587-80delACTG:-,NOT_FOUND:-,NOT_FOUND 1 11140970 . C . . NT END=11141138;NT GT ./. 1 11141187 rs2258621 C G 751 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=C/0.2276,A/.,G/0.7724;Gene=EXOSC10/NM_001001998.2/1;CC=c.1389G>C;ProtCh=p.P463=;VC=Silent;Gene=EXOSC10/NM_002685.3/0;CC=c.1389G>C;ProtCh=p.P463=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:213:142:0:0:1,212:34,6508:1.59,750.82:0.00,346.85:1.59,403.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,38.3:0,0:0,0:102,70:47,75:0,36:NM_001001998.1(EXOSC10) c.1389G>C (p.(=)),NM_001001998.1(EXOSC10) c.1389G>C (p.(=)):0.71,0.71:0.692603,0.692603 1 11141296 . C . . NT END=11142590;NT GT ./. 1 11142936 . C . . NT END=11147504;NT GT ./. 1 11147649 . C . . NT END=11147856;NT GT ./. 1 11147968 . C . . NT END=11148179;NT GT ./. 1 11148256 . C . . NT END=11150610;NT GT ./. 1 11150726 . C . . NT END=11151070;NT GT ./. 1 11151237 . C . . NT END=11151549;NT GT ./. 1 11151655 . C . . NT END=11155814;NT GT ./. 1 11151779 rs1148482 A G 68 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.1935,G/0.8065;Gene=EXOSC10/NM_001001998.2/1;CC=c.373-125T>C;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.373-125T>C;VC=Intron;DM=EXOSC10/PMC2NT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:0:0:0:18:596:68.16:0.00:68.16:1.00:0.00:1.00:60:46.4:0:0:123:27:14:NM_001001998.1(EXOSC10) c.373-125T>C,NM_001001998.1(EXOSC10) c.373-125T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 11155939 . C . . NT END=11158076;NT GT ./. 1 11156045 rs374028571 CT C 14 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=EXOSC10/NM_001001998.2/1;CC=c.249-108delA;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.249-108delA;VC=Intron;DM=EXOSC10/PMC2NT;DM=EXOSC10/PMC2NT;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:CT,I,C:31:12:4:9:22,3,6:726,116,269:0.00,5.79,13.98:0.00,2.33,0.82:0.00,3.46,13.16:0.00,0.00,0.89:0.00,0.00,0.84:0.00,0.00,0.99:60,60,60:7.0,9.7,28.3:0,1,3:0,0,0:97,88,69:45,57,81:38,33,38:-,NM_001001998.1(EXOSC10) c.249-108delA:-,NOT_FOUND:-,NOT_FOUND 1 11157782 . CA C 9 rn VT=DEL;SST=Single;DP=6;NP=1;PC=0.579;Gene=EXOSC10/NM_001001998.2/1;CC=c.248+294delT;VC=Intron;Gene=EXOSC10/NM_002685.3/0;CC=c.248+294delT;VC=Intron;DM=EXOSC10/PMC2NT;DM=EXOSC10/PMC2NT;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CA,C:6:6:0:4:2,4:69,86:0.00,8.77:0.00,8.77:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,61.2:0,0:0,0:74,77:72,52:56,32:-,NM_001001998.1(EXOSC10) c.248+294delT:-,NOT_FOUND:-,NOT_FOUND 1 11158214 . C . . NT END=11159777;NT GT ./. 1 11159961 . G . . NT END=11166661;NT GT ./. 1 11167558 . C . . NT END=11168237;NT GT ./. 1 11168344 . C . . NT END=11169346;NT GT ./. 1 11169428 . C . . NT END=11169705;NT GT ./. 1 11169787 . C . . NT END=11172908;NT GT ./. 1 11172975 . C . . NT END=11174374;NT GT ./. 1 11174067 rs1148478 A T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2202,T/0.7798;PC=0.024;Gene=MTOR/NM_004958.3/1;CC=c.7300+308T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:5:0:0:5:141:16.43:16.43:0.00:1.00:1.00:0.00:60:56.4:0:0:23:128:16:NM_004958.3(MTOR) c.7300+308T>A,NM_004958.3(MTOR) c.7300+308T>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 11174511 . C . . NT END=11174869;NT GT ./. 1 11174945 . C . . NT END=11175452;NT GT ./. 1 11175526 . C . . NT END=11177060;NT GT ./. 1 11177144 . C . . NT END=11181302;NT GT ./. 1 11181426 . C . . NT END=11182035;NT GT ./. 1 11181985 rs41274510 G A 136 nt VT=SNV;PN=G;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.9904,A/0.009585;Gene=MTOR/NM_004958.3/1;CC=c.6810+51C>T;VC=Intron;DM=MTOR/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:85:77:0:0:42,1,42:1409,22,1347:135.68,0.60,0.00:114.22,-0.16,0.00:21.45,0.76,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.8,142.0,9.4:0,0,0:0,0,0:51,34,46:95,117,104:30,0,23:NM_004958.3(MTOR) c.6810+51C>T,-:0.01,-:0.021836,- 1 11182184 . C . . NT END=11184554;NT GT ./. 1 11184691 . C . . NT END=11186678;NT GT ./. 1 11186854 . C . . NT END=11187066;NT GT ./. 1 11187202 . C . . NT END=11187680;NT GT ./. 1 11187864 . C . . NT END=11188060;NT GT ./. 1 11187893 rs1770344 T C 338 nt VT=SNV;PN=A;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.009984,C/0.99,G/.;Gene=MTOR/NM_004958.3/1;CC=c.6034-30A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:95:44:0:0:2,92,1:19,2966,8:0.33,338.07,0.00:0.18,123.59,0.00:0.15,214.48,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:67.5,39.2,55.0:0,0,0:0,0,0:67,94,94:84,52,57:23,34,0:NM_004958.3(MTOR) c.6034-30A>G,NM_004958.3(MTOR) c.6034-30A>G:1,1:0.994772,0.994772 1 11188184 . C . . NT END=11188510;NT GT ./. 1 11188610 . C . . NT END=11188911;NT GT ./. 1 11189009 . C . . NT END=11189794;NT GT ./. 1 11189896 . C . . NT END=11190585;NT GT ./. 1 11190835 . C . . NT END=11193136;NT GT ./. 1 11193255 . C . . NT END=11194407;NT GT ./. 1 11194524 . C . . NT END=11199360;NT GT ./. 1 11199493 . C . . NT END=11199585;NT GT ./. 1 11199716 . C . . NT END=11204704;NT GT ./. 1 11199937 rs111579928 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9708,T/0.02915;PC=0.037;Gene=MTOR/NM_004958.3/1;CC=c.4873-222G>A;VC=Intron;DM=MTOR/FAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:C,T:13:0:0:0:8,5:249,150:0.00,13.62:0.00,0.00:0.00,13.62:0.00,0.91:0.00,0.00:0.00,0.91:60,60:5.4,76.4:0,0:0,0:108,130:41,21:28,9:-,NM_004958.3(MTOR) c.4873-222G>A:-,0.03:-,NOT_FOUND 1 11204813 . C . . NT END=11205024;NT GT ./. 1 11205058 rs1057079 C T 262 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.4525,T/0.5475;PC=1.000;Gene=MTOR/NM_004958.3/1;CC=c.4731G>A;ProtCh=p.A1577=;VC=Silent;Gene=MTOR-AS1/NR_046600.1/0;VC=NonCoding;DM=MTOR/FAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:49:0:0:70:2282:261.54:120.05:141.48:1.00:1.00:1.00:60:40.1:0:0:63:82:25:NM_004958.3(MTOR) c.4731G>A (p.(=)),NM_004958.3(MTOR) c.4731G>A (p.(=)):0.61,0.61:0.545902,0.545902 1 11205103 . C . . NT END=11206732;NT GT ./. 1 11206849 . C . . NT END=11210182;NT GT ./. 1 11210284 . C . . NT END=11217208;NT GT ./. 1 11217349 . C . . NT END=11227498;NT GT ./. 1 11227575 . C . . NT END=11249636;NT GT ./. 1 11250013 . G . . NT END=11252326;NT GT ./. 1 11252428 . G . . NT END=11253636;NT GT ./. 1 11253832 . G . . NT END=11254517;NT GT ./. 1 11254006 rs5772444 AC A 29 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=AC/0.1026,A/0.8974;DB;DBA=NA;PAF=AC/0.1026,A/0.8974;NP=99;PC=0.002;Gene=MTOR/NM_004958.3/1;CC=c.4253+5308delG;VC=Intron;Gene=ANGPTL7/NM_021146.3/1;CC=c.672+182delC;VC=Intron;DM=ANGPTL7/Fibrinogen_C;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:AC,A:13:0:0:9:4,9:116,284:0.00,29.21:0.00,0.00:0.00,29.21:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.2,2.4:0,0:0,0:144,86:6,64:3,26:-,NM_004958.3(MTOR) c.4253+5308delG:-,NOT_FOUND:-,NOT_FOUND 1 11254717 . G . . NT END=11254910;NT GT ./. 1 11255081 . A . . NT END=11259314;NT GT ./. 1 11259461 . C . . NT END=11259597;NT GT ./. 1 11259761 . C . . NT END=11264617;NT GT ./. 1 11264761 . C . . NT END=11269368;NT GT ./. 1 11269516 . C . . NT END=11270870;NT GT ./. 1 11270964 . C . . NT END=11272368;NT GT ./. 1 11272532 . C . . NT END=11272852;NT GT ./. 1 11272966 . C . . NT END=11273455;NT GT ./. 1 11273624 . C . . NT END=11276204;NT GT ./. 1 11276292 . C . . NT END=11288724;NT GT ./. 1 11288618 rs4845985 G A 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.3618,A/0.6382;Gene=MTOR/NM_004958.3/1;CC=c.3030+107C>T;VC=Intron;DM=MTOR/DUF3385 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:33:0:0:11,24:344,711:30.20,0.00:22.13,0.00:8.07,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:66.5,15.4:0,0:0,0:52,51:97,99:29,29:NM_004958.3(MTOR) c.3030+107C>T,-:0.66,-:NOT_FOUND,- 1 11288633 rs4845986 G C 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.3618,C/0.6382;PC=0.002;Gene=MTOR/NM_004958.3/1;CC=c.3030+92C>G;VC=Intron;DM=MTOR/DUF3385 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:44:40:0:0:18,26:591,828:54.76,0.00:44.65,0.00:10.11,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:71.9,15.1:0,0:0,0:16,47:134,104:12,31:NM_004958.3(MTOR) c.3030+92C>G,-:0.66,-:NOT_FOUND,- 1 11288758 rs1064261 G A 170 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=G/0.2995,A/0.7005;PC=0.017;Gene=MTOR/NM_004958.3/1;CC=c.2997C>T;ProtCh=p.N999=;VC=Silent;DM=MTOR/DUF3385 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:126:106:0:0:56,69,1:1807,2190,18:170.09,0.00,0.15:125.92,0.00,0.27:44.17,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.4,4.4,68.0:0,0,0:0,0,0:92,54,7:59,88,144:37,30,0:NM_004958.3(MTOR) c.2997C>T (p.(=)),-:0.7,-:0.617561,- 1 11288976 . C . . NT END=11290981;NT GT ./. 1 11289161 rs2076655 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4625,A/0.5375;Gene=MTOR/NM_004958.3/1;CC=c.2780-186C>T;VC=Intron;DM=MTOR/DUF3385 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:16:0:0:0:6,10:141,299:12.31,0.00:0.00,0.00:12.31,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:54.3,4.9:0,0:0,0:61,105:89,46:20,9:NM_004958.3(MTOR) c.2780-186C>T,-:0.59,-:NOT_FOUND,- 1 11291112 . C . . NT END=11291356;NT GT ./. 1 11291492 . C . . NT END=11292492;NT GT ./. 1 11292586 . C . . NT END=11293454;NT GT ./. 1 11292666 rs10864495 T A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4577,A/0.5423;Gene=MTOR/NM_004958.3/1;CC=c.2422-81A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:7:0:0:11,14:322,446:29.98,0.00:4.20,0.00:25.79,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:38.8,4.7:0,0:0,0:94,96:56,47:39,50:NM_004958.3(MTOR) c.2422-81A>T,-:0.59,-:NOT_FOUND,- 1 11292753 rs2024625 A G 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3049,G/0.6951;Gene=MTOR/NM_004958.3/1;CC=c.2422-168T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:2:0:0:7,8:216,254:0.00,24.71:0.00,5.61:0.00,19.11:0.00,1.00:0.00,0.82:0.00,1.00:60,60:14.4,70.6:0,0:0,0:101,82:50,69:23,21:-,NM_004958.3(MTOR) c.2422-168T>C:-,0.68:-,NOT_FOUND 1 11292952 rs2746640 T A 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.258,A/0.742;PC=0.001;Gene=MTOR/NM_004958.3/1;CC=c.2422-367A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,T:4:3:0:0:2,2:67,19:6.49,0.00:6.77,0.00:-0.29,0.00:0.51,0.00:0.89,0.00:0.67,0.00:60,60:47.5,28.0:0,0:0,0:50,67:100,83:23,57:NM_004958.3(MTOR) c.2422-367A>T,-:0.69,-:NOT_FOUND,- 1 11293147 rs11121702 C T 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3055,T/0.6945;PC=0.999;Gene=MTOR/NM_004958.3/1;CC=c.2421+308G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:11:0:0:6,10:205,285:0.00,28.62:0.00,16.12:0.00,12.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,63.1:0,0:0,0:54,27:96,122:26,16:-,NM_004958.3(MTOR) c.2421+308G>A:-,0.7:-,NOT_FOUND 1 11293200 rs7541998 C T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.3053,T/0.6947;Gene=MTOR/NM_004958.3/1;CC=c.2421+255G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:15:9:0:0:5,10:169,306:0.00,31.14:0.00,12.97:0.00,18.17:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.2,61.1:0,0:0,0:99,73:52,77:17,18:-,NM_004958.3(MTOR) c.2421+255G>A:-,0.7:-,NOT_FOUND 1 11293367 rs113278628 T TA 7 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=13;PC=0.076;Gene=MTOR/NM_004958.3/1;CC=c.2421+87dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:T,TA,D:24:18:3:2:19,3,2:569,98,64:0.00,7.43,4.48:0.00,7.83,4.74:0.00,-0.40,-0.26:0.00,0.47,0.00:0.00,0.83,0.00:0.00,0.61,0.00:60,60,60:2.4,4.3,6.0:0,0,0:0,0,0:40,39,40:111,112,110:34,17,2:-,NM_004958.3(MTOR) c.2421+87_2421+88insT:-,NOT_FOUND:-,NOT_FOUND 1 11293545 . C . . NT END=11294199;NT GT ./. 1 11293959 rs11121704 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2991,T/0.7009;Gene=MTOR/NM_004958.3/1;CC=c.2331+241G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,96:0.00,10.05:0.00,10.05:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,32.0:0,0:0,0:33,17:117,133:0,1:-,NM_004958.3(MTOR) c.2331+241G>A:-,0.7:-,NOT_FOUND 1 11294323 . C . . NT END=11297899;NT GT ./. 1 11294474 rs718206 T A 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3051,A/0.6949;Gene=MTOR/NM_004958.3/1;CC=c.2209-152A>T;VC=Intron;DM=MTOR/FATC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,T:17:0:0:0:12,5:375,166:38.75,0.00:0.00,0.00:38.75,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.8,0.0:0,0:0,0:91,63:58,88:14,48:NM_004958.3(MTOR) c.2209-152A>T,-:0.7,-:NOT_FOUND,- 1 11297762 rs7524202 T C 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.2991,C/0.7009;Gene=MTOR/NM_004958.3/1;CC=c.2208+138A>G;VC=Intron;DM=MTOR/FATC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:22:0:0:10,12:310,347:29.20,0.00:29.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.5,20.8:0,0:0,0:90,29:60,122:12,23:NM_004958.3(MTOR) c.2208+138A>G,-:0.7,-:NOT_FOUND,- 1 11298106 . C . . NT END=11298458;NT GT ./. 1 11298675 . C . . NT END=11300359;NT GT ./. 1 11298790 rs2024627 T C 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.2991,C/0.7009;Gene=MTOR/NM_004958.3/1;CC=c.1787-116A>G;VC=Intron;DM=MTOR/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:0:0:0:15,17:459,454:43.48,0.00:0.00,0.00:43.48,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.7,33.7:0,0:0,0:116,93:35,58:17,16:NM_004958.3(MTOR) c.1787-116A>G,-:0.7,-:NOT_FOUND,- 1 11300605 . C . . NT END=11301609;NT GT ./. 1 11301714 rs1135172 A G 179 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.3604,G/0.6396;PC=0.920;Gene=MTOR/NM_004958.3/1;CC=c.1437T>C;ProtCh=p.D479=;VC=Silent;DM=MTOR/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:106:52:0:0:49,1,56:1627,8,1839:0.00,-0.14,179.08:0.00,-0.02,57.42:0.00,-0.12,121.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:2.8,54.0,41.3:0,0,0:0,0,0:92,122,87:53,29,61:30,0,30:-,NM_004958.3(MTOR) c.1437T>C (p.(=)):-,0.66:-,0.585345 1 11301739 . C . . NT END=11303170;NT GT ./. 1 11303358 . C . . NT END=11307681;NT GT ./. 1 11307791 . C . . NT END=11307875;NT GT ./. 1 11308152 . C . . NT END=11313895;NT GT ./. 1 11314031 . C . . NT END=11316048;NT GT ./. 1 11314202 rs550805470 A AT 8 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;Gene=MTOR/NM_004958.3/1;CC=c.706-173_706-172insA;VC=Intron;DM=MTOR/Rapamycin_bind;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,AT:15:0:3:0:12,3:370,97:0.00,7.88:0.00,0.00:0.00,7.88:0.00,0.55:0.00,0.00:0.00,0.55:60,60:9.8,0.0:0,0:0,0:129,111:21,32:10,11:-,NM_004958.3(MTOR) c.706-173_706-172insA:-,NOT_FOUND:-,NOT_FOUND 1 11315903 rs376323314 C CA 27 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=2;PC=0.004;Gene=MTOR/NM_004958.3/1;CC=c.705+145_705+146insT;VC=Intron;DM=MTOR/Rapamycin_bind;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,CA,D:14:15:9:3:3,8,3:102,293,92:0.00,26.74,8.25:0.00,26.74,8.25:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:10.3,42.9,46.0:0,1,0:0,0,0:33,48,59:118,98,92:22,21,8:-,NM_004958.3(MTOR) c.705+145_705+146insT:-,NOT_FOUND:-,NOT_FOUND 1 11316250 . C . . NT END=11316341;NT GT ./. 1 11316360 . G . . NT END=11316989;NT GT ./. 1 11317223 . C . . NT END=11318541;NT GT ./. 1 11317320 rs2092642 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.4591,T/0.5409;PC=0.011;Gene=MTOR/NM_004958.3/1;CC=c.272-98G>A;VC=Intron;DM=MTOR/FAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:1:0:0:28,11:857,361:0.00,31.28:0.00,-0.07:0.00,31.36:0.00,1.00:0.00,0.52:0.00,1.00:60,60:3.1,34.4:0,0:0,0:107,105:43,46:28,36:-,NM_004958.3(MTOR) c.272-98G>A:-,0.59:-,NOT_FOUND 1 11318651 . C . . NT END=11319304;NT GT ./. 1 11318763 rs2076657 C G 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4589,G/0.5411;PC=0.005;Gene=MTOR/NM_004958.3/1;CC=c.163-113G>C;VC=Intron;DM=MTOR/FAT;DM=MTOR/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,G:7:0:0:0:3,4:107,137:0.00,13.53:0.00,0.00:0.00,13.53:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,38.0:0,0:0,0:107,100:44,46:3,28:-,NM_004958.3(MTOR) c.163-113G>C:-,0.59:-,NOT_FOUND 1 11319473 . C . . NT END=11333588;NT GT ./. 1 11319587 rs4845988 A G 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.4617,G/0.5383;PC=0.007;Gene=MTOR/NM_004958.3/1;CC=c.-14-107T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:41:0:0:0:20,1,20:694,5,601:0.00,-0.16,57.58:0.00,0.00,0.00:0.00,-0.16,57.58:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:7.7,48.0,60.4:0,0,0:0,0,0:85,55,111:65,56,38:27,0,25:-,NM_004958.3(MTOR) c.-14-107T>C:-,0.59:-,NOT_FOUND 1 11334118 . G . . NT END=11345700;NT GT ./. 1 11346189 . G . . NT END=11561049;NT GT ./. 1 11473517 rs71568324 A AAC 9 sb,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,AAC:6:6:4:0:3,3:91,131:0.00,9.40:0.00,1.17:0.00,8.23:0.00,0.69:0.00,0.95:0.00,0.95:60,60:9.7,39.0:0,1:0,0:71,56:79,84:15,17:-,chr1 g.11473517_11473518insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 11473580 rs7526065 C T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6398,T/0.3602 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,T:8:6:0:0:4,4:138,135:0.00,13.00:0.00,6.65:0.00,6.35:0.00,0.87:0.00,0.73:0.00,0.99:60,60:14.8,37.0:0,0:0,0:76,87:60,48:41,24:-,chr1 g.11473579C>T (intergenic):-,0.35:-,NOT_FOUND 1 11561593 rs2817580 G A 209 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=G/0.6282,A/0.3718;Gene=PTCHD2/NM_020780.1/1;CC=c.544G>A;ProtCh=p.G182S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:161:120:0:0:70,1,90:2236,9,2826:209.39,-0.19,0.00:131.31,-0.08,0.00:78.07,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.3,126.0,9.4:0,0,0:0,0,0:75,132,64:73,19,85:36,0,32:NM_020780.1(PTCHD2) c.544G>A (p.Gly182Ser),-:0.43,-:0.513046,- 1 11562146 . G . . NT END=11562734;NT GT ./. 1 11562490 rs2235665 G A 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2356,A/0.7644;Gene=PTCHD2/NM_020780.1/1;CC=c.1097-245G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:7:3:0:0:3,4:85,110:7.87,0.00:2.72,0.00:5.15,0.00:0.69,0.00:0.83,0.00:0.89,0.00:60,60:32.0,21.0:0,0:0,0:98,84:53,62:4,26:NM_020780.1(PTCHD2) c.1097-245G>A,-:0.78,-:NOT_FOUND,- 1 11562955 . G . . NT END=11574446;NT GT ./. 1 11574584 . G . . NT END=11575425;NT GT ./. 1 11575375 rs2594318 T A 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.5809,A/0.4191;PC=0.017;Gene=PTCHD2/NM_020780.1/1;CC=c.1454-51T>A;VC=Intron;DM=PTCHD2/Patched GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:50:46:0:0:28,22:906,685:89.08,0.00:70.50,0.00:18.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,6.6:0,0:0,0:37,51:113,87:24,30:NM_020780.1(PTCHD2) c.1454-51T>A,-:0.48,-:0.556477,- 1 11575561 . G . . NT END=11576057;NT GT ./. 1 11576219 . G . . NT END=11577519;NT GT ./. 1 11577660 . G . . NT END=11579411;NT GT ./. 1 11579470 rs2072994 G A 80 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.6402,A/0.3598;Gene=PTCHD2/NM_020780.1/1;CC=c.1948G>A;ProtCh=p.A650T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:40:0:0:28,32:850,1027:80.36,0.00:36.20,0.00:44.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,6.1:0,0:0,0:92,63:58,86:26,30:NM_020780.1(PTCHD2) c.1948G>A (p.Ala650Thr),-:0.43,-:0.460762,- 1 11579561 . G . . NT END=11579775;NT GT ./. 1 11579938 . G . . NT END=11580743;NT GT ./. 1 11580906 . G . . NT END=11583998;NT GT ./. 1 11582675 . ACCCAGCCAGAG A 7 sb,nt VT=DEL;SST=Single;DP=7;NP=20;PC=0.036;Gene=PTCHD2/NM_020780.1/1;CC=c.2363-1303_2363-1293delAGCCCAGCCAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:ACCCAGCCAGAG,A:7:6:0:4:3,4:94,74:0.00,7.19:0.00,6.88:0.00,0.31:0.00,0.90:0.00,0.99:0.00,0.93:60,32:132.7,143.0:0,0:0,0:11,36:137,110:4,22:-,NM_020780.1(PTCHD2) c.2363-1323_2363-1313delCCCAGCCAGAG:-,NOT_FOUND:-,NOT_FOUND 1 11582752 rs371547363 G A 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=57;PC=0.014;Gene=PTCHD2/NM_020780.1/1;CC=c.2363-1247G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:10:7:0:0:3,7:97,188:8.49,0.00:4.37,0.00:4.12,0.00:0.62,0.00:0.89,0.00:0.92,0.00:57,60:155.7,121.7:0,0:0,0:84,88:51,52:15,11:NM_020780.1(PTCHD2) c.2363-1247G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 11582774 rs373545241 G A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=516;PC=0.018;Gene=PTCHD2/NM_020780.1/1;CC=c.2363-1225G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:A,G:9:5:0:0:5,4:126,111:12.27,0.00:5.12,0.00:7.16,0.00:0.96,0.00:0.98,0.00:0.99,0.00:60,57:146.0,128.5:0,0:0,0:110,63:29,46:11,38:NM_020780.1(PTCHD2) c.2363-1225G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 11582784 rs377118646 G A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=126;PC=0.013;Gene=PTCHD2/NM_020780.1/1;CC=c.2363-1215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C,G:8:5:0:0:5,1,2:129,25,46:13.39,1.96,0.00:4.14,2.02,0.00:9.24,-0.06,0.00:0.97,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,57,12:152.0,97.0,193.5:0,0,0:0,0,0:120,106,108:20,45,23:11,0,7:NM_020780.1(PTCHD2) c.2363-1215G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 11582795 rs374509796 G A 12 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=180;PC=0.005;Gene=PTCHD2/NM_020780.1/1;CC=c.2363-1204G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,G:6:3:0:0:4,2:118,45:12.06,0.00:0.65,0.00:11.40,0.00:0.93,0.00:0.97,0.00:0.97,0.00:59,57:164.8,134.5:0,0:0,0:129,114:18,21:7,2:NM_020780.1(PTCHD2) c.2363-1204G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 11584113 . G . . NT END=11585232;NT GT ./. 1 11585370 . G . . NT END=11586707;NT GT ./. 1 11585601 rs397703371 CTG C 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CTG/0.622,C/0.378;DB;DBA=NA;PAF=CTG/0.622,C/0.378;DB;DBA=NA;PAF=NA;NP=69;PC=0.001;Gene=PTCHD2/NM_020780.1/1;CC=c.2613+238_2613+239delGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:CTG,C:5:0:0:3:2,3:52,98:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.78:0.00,0.00:0.00,0.78:60,60:50.5,4.7:0,0:0,0:130,100:21,51:15,37:-,NM_020780.1(PTCHD2) c.2613+233_2613+234delTG:-,0.44:-,NOT_FOUND 1 11586893 . G . . NT END=11589612;NT GT ./. 1 11586996 rs35367501 C T 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8716,T/0.1284;PC=0.003;Gene=PTCHD2/NM_020780.1/1;CC=c.2798+104C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:3:0:0:8,14:260,447:0.00,45.11:0.00,2.22:0.00,42.89:0.00,1.00:0.00,0.96:0.00,1.00:60,60:0.0,34.3:0,0:0,0:92,109:59,42:45,33:-,NM_020780.1(PTCHD2) c.2798+104C>T:-,0.14:-,NOT_FOUND 1 11587001 . CT C 11 rn VT=DEL;SST=Single;DP=19;NP=3;PC=0.005;Gene=PTCHD2/NM_020780.1/1;CC=c.2798+123delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:CT,C:18:2:0:5:14,4:443,161:0.00,10.67:0.00,1.40:0.00,9.27:0.00,0.72:0.00,0.48:0.00,0.96:60,60:23.6,23.8:0,1:0,0:78,81:73,70:43,36:-,NM_020780.1(PTCHD2) c.2798+110delT:-,NOT_FOUND:-,NOT_FOUND 1 11589744 . G . . NT END=11589843;NT GT ./. 1 11590017 . G . . NT END=11590963;NT GT ./. 1 11590175 rs67602684 C T 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8209,T/0.1791;Gene=PTCHD2/NM_020780.1/1;CC=c.3102+159C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:11:0:0:0:4,7:126,227:0.00,22.91:0.00,0.00:0.00,22.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.0,67.6:0,0:0,0:125,117:25,34:12,30:-,NM_020780.1(PTCHD2) c.3102+159C>T:-,0.18:-,NOT_FOUND 1 11591091 . G . . NT END=11591621;NT GT ./. 1 11591768 . G . . NT END=11594437;NT GT ./. 1 11594400 rs2235663 T C 55 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.3618,C/0.6382;Gene=PTCHD2/NM_020780.1/1;CC=c.3376-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:41:0:0:18,24:591,765:55.19,0.00:47.30,0.00:7.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,8.4:0,0:0,0:46,49:92,100:23,27:NM_020780.1(PTCHD2) c.3376-38T>C,-:0.58,-:0.531132,- 1 11594598 . G . . NT END=11595067;NT GT ./. 1 11595038 rs2076467 A G 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.8628,G/0.1372;Gene=PTCHD2/NM_020780.1/1;CC=c.3536-30A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:42:0:0:18,32:631,1006:0.00,101.54:0.00,65.16:0.00,36.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,34.8:0,0:0,0:78,39:72,109:24,22:-,NM_020780.1(PTCHD2) c.3536-30A>G:-,0.15:-,0.103879 1 11595182 . G . . NT END=11595534;NT GT ./. 1 11595203 rs2235662 A G 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.8241,G/0.1759;Gene=PTCHD2/NM_020780.1/1;CC=c.3649+22A>G;VC=Intron;DM=PTCHD2/MMPL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:18:0:0:18,19:598,582:0.00,56.12:0.00,11.95:0.00,44.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,44.2:0,0:0,0:96,98:54,53:29,30:-,NM_020780.1(PTCHD2) c.3649+22A>G:-,0.17:-,0.126168 1 11595293 rs2235661 A G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8271,G/0.1729;Gene=PTCHD2/NM_020780.1/1;CC=c.3649+112A>G;VC=Intron;DM=PTCHD2/MMPL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:10:0:0:10,8:285,225:0.00,20.87:0.00,8.79:0.00,12.08:0.00,0.99:0.00,0.99:0.00,0.98:60,60:9.9,65.6:0,0:0,0:69,80:82,71:47,41:-,NM_020780.1(PTCHD2) c.3649+112A>G:-,0.16:-,NOT_FOUND 1 11595331 rs2235660 G A 21 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8279,A/0.1721;PC=0.013;Gene=PTCHD2/NM_020780.1/1;CC=c.3649+150G>A;VC=Intron;DM=PTCHD2/MMPL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:11:0:0:7,9:228,286:21.39,0.00:22.63,0.00:-1.24,0.00:0.98,0.00:1.00,0.00:0.94,0.00:60,60:51.7,15.8:0,0:0,0:58,60:93,88:46,23:NM_020780.1(PTCHD2) c.3649+150G>A,-:0.16,-:NOT_FOUND,- 1 11595702 . G . . NT END=11596380;NT GT ./. 1 11596744 . C . . NT END=11708750;NT GT ./. 1 11637456 rs145907979 CCACACACA C 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=17;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CCACACACA,C:5:4:0:3:2,3:70,96:0.00,9.57:0.00,4.88:0.00,4.68:0.00,0.78:0.00,0.97:0.00,0.97:60,70:0.0,22.3:0,0:0,0:70,76:43,75:38,46:-,chr1 g.11637457_11637464delCACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 11708736 rs1055547 T C 569 nt VT=SNV;PN=G;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=T/0.495,C/0.505;Gene=FBXO2/NM_012168.5/1;CC=c.*15A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:151:132:0:0:151:4968:568.56:377.07:191.49:1.00:1.00:1.00:60:40.6:0:0:61:85:30:NM_012168.5(FBXO2) c.*15A>G,NM_012168.5(FBXO2) c.*15A>G:0.55,0.55:0.628404,0.628404 1 11708886 . C . . NT END=11709143;NT GT ./. 1 11709029 rs577091768 T TCAGCC 127 nt VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=NA;Gene=FBXO2/NM_012168.5/1;CC=c.756+114_756+115insGGCTG;VC=Intron;DM=FBXO2/FBA;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,TCAGCC:88:56:41:0:4,1,42,41:121,7,1226,1329:7.80,-0.15,0.00,127.48:7.23,-0.06,0.00,85.16:0.57,-0.10,0.00,42.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:89.0,178.0,56.6,45.4:0,0,1,0:0,0,0,0:0,138,110,51:147,12,34,98:0,0,39,27:-,NM_012168.5(FBXO2) c.756+114_756+115insGGCTG:-,NOT_FOUND:-,NOT_FOUND 1 11709052 rs538205502 C G 334 nt VT=SNV;PN=A;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.237,G/0.5549;DB;DBA=NA;PAF=C/0.237,CAG/0.2081;Gene=FBXO2/NM_012168.5/1;CC=c.756+92G>C;VC=Intron;DM=FBXO2/FBA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:102:71:0:0:1,101:7,2880:0.00,333.97:0.00,182.32:0.00,151.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,54.5:0,5:0,0:112,44:23,105:0,28:NM_012168.5(FBXO2) c.756+92G>C,NM_012168.5(FBXO2) c.756+92G>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 11709283 . C . . NT END=11709835;NT GT ./. 1 11709932 . C . . NT END=11710001;NT GT ./. 1 11710132 . C . . NT END=11710522;NT GT ./. 1 11710892 . C . . NT END=11714375;NT GT ./. 1 11711204 rs9430198 C T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7632,T/0.2368;Gene=FBXO2/NM_012168.5/1;CC=c.23-313G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:0:0:0:2,3:69,95:0.00,9.47:0.00,0.00:0.00,9.47:0.00,0.78:0.00,0.00:0.00,0.78:60,60:40.5,38.7:0,0:0,0:82,138:68,13:50,9:-,NM_012168.5(FBXO2) c.23-313G>A:-,0.2:-,NOT_FOUND 1 11714368 rs2272983 T G 363 nt VT=SNV;PN=G;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.2009,G/0.7991;Gene=FBXO2/NM_012168.5/1;CC=c.22+8A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:67:0:0:98:3166:363.03:173.49:189.54:1.00:1.00:1.00:60:42.5:0:0:56:85:28:NM_012168.5(FBXO2) c.22+8A>C,NM_012168.5(FBXO2) c.22+8A>C:0.8,0.8:0.813945,0.813945 1 11714398 . C . . NT END=11715892;NT GT ./. 1 11716158 . G . . NT END=11718323;NT GT ./. 1 11718451 . G . . NT END=11718589;NT GT ./. 1 11718686 . G . . NT END=11718792;NT GT ./. 1 11718929 . G . . NT END=11721186;NT GT ./. 1 11721363 . C . . NT END=11728715;NT GT ./. 1 11728458 . GT G 14 rn VT=DEL;SST=Single;DP=11;Gene=FBXO6/NM_018438.5/1;CC=c.-3-240delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:GT,I,G:11:11:1:5:5,1,5:130,18,144:0.00,1.05,13.77:0.00,1.05,13.77:0.00,0.00,0.00:0.00,0.00,0.93:0.00,0.00,0.93:0.00,0.00,0.00:60,60,60:51.8,31.0,93.2:0,0,0:0,0,0:36,86,24:115,52,119:31,0,8:-,NM_018438.5(FBXO6) c.-3-254delT:-,NOT_FOUND:-,NOT_FOUND 1 11729002 . G . . NT END=11731322;NT GT ./. 1 11731450 . G . . NT END=11731984;NT GT ./. 1 11732081 . G . . NT END=11733333;NT GT ./. 1 11733470 . G . . NT END=11733671;NT GT ./. 1 11733909 . C . . NT END=11734831;NT GT ./. 1 11734874 . C . . NT END=11735138;NT GT ./. 1 11735232 . C . . NT END=11735714;NT GT ./. 1 11735789 . C . . NT END=11736102;NT GT ./. 1 11736198 . C . . NT END=11736904;NT GT ./. 1 11737006 . C . . NT END=11737599;NT GT ./. 1 11737672 . C . . NT END=11740409;NT GT ./. 1 11740329 rs78169379 AGGCGTGAGCCAC A 60 sb,nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=AGGCGTGAGCCAC/0.7061,A/0.2939;DB;DBA=NA;PAF=AGGCGTGAGCCAC/0.7061,A/0.2939;NP=1204;PC=0.001;Gene=MAD2L2/NM_006341.3/0;CC=c.159+69_159+80delGTGGCTCACGCC;VC=Intron;Gene=MAD2L2/NM_001127325.1/1;CC=c.159+69_159+80delGTGGCTCACGCC;VC=Intron;DM=MAD2L2/HORMA;DM=MAD2L2/HORMA;DM=MAD2L2/HORMA;DM=MAD2L2/HORMA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:17:0:17:17:522:60.29:58.35:1.94:1.00:1.00:1.00:60:13.2:0:0:51:100:28:NM_001127325.1(MAD2L2) c.159+69_159+80delGTGGCTCACGCC,NM_001127325.1(MAD2L2) c.159+69_159+80delGTGGCTCACGCC:0.33,0.33:NOT_FOUND,NOT_FOUND 1 11740529 . C . . NT END=11740618;NT GT ./. 1 11740854 . C . . NT END=11766315;NT GT ./. 1 11766767 . G . . NT END=11769331;NT GT ./. 1 11769523 . G . . NT END=11771907;NT GT ./. 1 11772023 . G . . NT END=11772396;NT GT ./. 1 11772487 . G . . NT END=11775175;NT GT ./. 1 11775266 . G . . NT END=11779640;NT GT ./. 1 11779499 rs4846028 T C 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4704,C/0.5296;Gene=DRAXIN/NM_198545.3/1;CC=c.938-142T>C;VC=Intron;DM=DRAXIN/Draxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:10,15:278,464:25.20,0.00:25.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:61.4,5.3:0,0:0,0:64,45:86,106:38,24:NM_198545.3(DRAXIN) c.938-142T>C,-:0.56,-:NOT_FOUND,- 1 11779754 . C . . NT END=11796265;NT GT ./. 1 11779762 rs12117076 C T 114 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.8325,T/0.1675;PC=0.008;Gene=DRAXIN/NM_198545.3/1;CC=c.*9C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:70:28:0:0:1,31,1,37:11,921,9,1164:-0.02,0.00,-0.08,113.67:-0.05,0.00,0.06,25.93:0.03,0.00,-0.14,87.74:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:223.0,20.3,152.0,37.3:0,0,0,0:0,0,0,0:66,109,116,95:85,30,34,50:0,19,0,33:-,NM_198545.3(DRAXIN) c.*9C>T:-,0.19:-,0.262842 1 11796168 rs397821683 CGGGCG C 168 nt VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=CGGGCG/0.01158,C/0.9884;DB;DBA=NA;PAF=CGGGCG/0.01158,C/0.9884;DB;DBA=NA;PAF=CGGGCG/0.01158,C/0.9884;DB;DBA=NA;PAF=CGGGCG/0.01158,C/0.9884;DB;DBA=NA;PAF=NA;NP=486;PC=0.699;Gene=AGTRAP/NM_001040194.1/0;CC=c.-83_-79delGGGGC;VC=5UTR;Gene=AGTRAP/NM_001040195.1/0;CC=c.-83_-79delGGGGC;VC=5UTR;Gene=AGTRAP/NM_001040196.1/0;CC=c.-83_-79delGGGGC;VC=5UTR;Gene=AGTRAP/NM_001040197.1/1;CC=c.-83_-79delGGGGC;VC=5UTR;Gene=AGTRAP/NM_020350.4/0;CC=c.-83_-79delGGGGC;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:CGGGCG,C:54:49:0:51:3,51:103,1492:0.00,167.95:0.00,126.58:0.00,41.37:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,2.4:0,0:0,0:141,51:10,92:1,37:NM_020350.4(AGTRAP) c.-93GGGGC[2],NM_020350.4(AGTRAP) c.-93GGGGC[2]:0.99,0.99:NOT_FOUND,NOT_FOUND 1 11796293 . G . . NT END=11805859;NT GT ./. 1 11805895 . G . . NT END=11806183;NT GT ./. 1 11806281 . G . . NT END=11807496;NT GT ./. 1 11807426 rs12752700 C T 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4441,T/0.5559;PC=0.002;Gene=AGTRAP/NM_001040194.1/0;CC=c.63-71C>T;VC=Intron;Gene=AGTRAP/NM_001040195.1/0;CC=c.28-71C>T;VC=Intron;Gene=AGTRAP/NM_001040196.1/0;CC=c.160-71C>T;VC=Intron;Gene=AGTRAP/NM_001040197.1/1;CC=c.160-71C>T;VC=Intron;Gene=AGTRAP/NM_020350.4/0;CC=c.63-71C>T;VC=Intron;DM=AGTRAP/AGTRAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:16:0:0:17:541:62.20:52.41:9.79:1.00:1.00:1.00:60:39.6:0:0:27:124:13:NM_020350.4(AGTRAP) c.63-71C>T,NM_020350.4(AGTRAP) c.63-71C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 11807603 . G . . NT END=11808471;NT GT ./. 1 11808668 . G . . NT END=11810133;NT GT ./. 1 11808706 rs11121819 T G 130 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=AGTRAP/NM_001040194.1/0;CC=c.343+60T>G;VC=Intron;Gene=AGTRAP/NM_001040195.1/0;CC=c.308+60T>G;VC=Intron;Gene=AGTRAP/NM_001040196.1/0;CC=c.440+60T>G;VC=Intron;Gene=AGTRAP/NM_001040197.1/1;CC=c.*17+39T>G;VC=Intron;Gene=AGTRAP/NM_020350.4/0;CC=c.364+39T>G;VC=Intron;DM=AGTRAP/AGTRAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:21:0:0:41,30:1311,989:129.63,0.00:20.00,0.00:109.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,2.6:0,0:0,0:107,95:42,56:21,31:NM_020350.4(AGTRAP) c.364+39T>G,-:0.44,-:0.341291,- 1 11810250 . A . . NT END=11824457;NT GT ./. 1 11824303 rs4845877 T C 23 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4083,C/0.5917;Gene=C1orf167/NM_001010881.1/1;CC=c.-70-85T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:199:22.76:20.77:1.99:1.00:1.00:1.00:60:64.2:0:0:84:67:40:XM_003118845.2(C1orf167) c.-70-85T>C,XM_003118845.2(C1orf167) c.-70-85T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 11824346 rs4845878 G A 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4175,A/0.5825;PC=0.040;Gene=C1orf167/NM_001010881.1/1;CC=c.-70-42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A,T:8:8:0:0:7,1:212,9:24.13,0.54:24.13,0.54:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.0,157.0:0,0:0,0:41,25:110,126:8,0:XM_003118845.2(C1orf167) c.-70-42G>A,XM_003118845.2(C1orf167) c.-70-42G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 11824528 . G . . NT END=11825913;NT GT ./. 1 11824556 rs4845879 A G 148 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.4036,G/0.5964;Gene=C1orf167/NM_001010881.1/1;CC=c.70+29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:G:41:26:0:0:41:1285:148.04:59.25:88.79:1.00:1.00:1.00:60:93.7:0:0:110:38:33:XM_003118845.2(C1orf167) c.70+29A>G,XM_003118845.2(C1orf167) c.70+29A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 11824575 rs10864536 T C 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2424,C/0.7576;Gene=C1orf167/NM_001010881.1/1;CC=c.70+48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:15:0:0:31:975:112.22:35.08:77.14:1.00:1.00:1.00:60:115.8:0:0:93:58:37:XM_003118845.2(C1orf167) c.70+48T>C,XM_003118845.2(C1orf167) c.70+48T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 11824578 rs11121825 C T 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4042,T/0.5958;Gene=C1orf167/NM_001010881.1/1;CC=c.70+51C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:13:0:0:31:963:110.99:28.56:82.43:1.00:1.00:1.00:60:117.1:0:0:96:55:36:XM_003118845.2(C1orf167) c.70+51C>T,XM_003118845.2(C1orf167) c.70+51C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 11824621 rs11121826 T C 89 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3674,C/0.6326;Gene=C1orf167/NM_001010881.1/1;CC=c.70+94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:1:0:0:23:781:89.04:3.98:85.07:1.00:1.00:1.00:60:112.9:0:0:103:48:30:XM_003118845.2(C1orf167) c.70+94T>C,XM_003118845.2(C1orf167) c.70+94T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 11825851 rs10218813 G C 214 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.3486,C/0.6514;Gene=C1orf167/NM_001010881.1/1;CC=c.71-63G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:C:58:54:0:0:58:1869:214.39:159.11:55.28:1.00:1.00:1.00:60:40.7:0:0:48:97:22:XM_003118845.2(C1orf167) c.71-63G>C,XM_003118845.2(C1orf167) c.71-63G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 11826630 rs6668699 C T 577 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=C/0.3704,T/0.6296;Gene=C1orf167/NM_001010881.1/1;CC=c.787C>T;ProtCh=p.P263S;VC=Missense;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:156:107:0:0:156:5031:577.17:300.93:276.24:1.00:1.00:1.00:60:40.0:0:0:66:74:32:XM_003118845.2(C1orf167) c.787C>T (p.Pro263Ser),XM_003118845.2(C1orf167) c.787C>T (p.Pro263Ser):0.69,0.69:NOT_FOUND,NOT_FOUND 1 11827143 . G . . NT END=11827277;NT GT ./. 1 11827180 rs6540995 A G 267 nt VT=SNV;PN=T;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.03195,G/0.9681;Gene=C1orf167/NM_001010881.1/1;CC=c.1299+38A>G;VC=Intron;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:76:41:0:1:75,1:2319,8:267.10,0.08:118.75,0.08:148.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.2,68.0:0,0:0,0:87,87:49,64:39,0:XM_003118845.2(C1orf167) c.912+38A>G,XM_003118845.2(C1orf167) c.912+38A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 11827304 rs6540996 A G 228 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.03195,G/0.9681;PC=0.001;Gene=C1orf167/NM_001010881.1/1;CC=c.1326A>G;ProtCh=p.P442=;VC=Silent;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G:64:32:0:0:64:1974:227.76:84.52:143.24:1.00:1.00:1.00:60:79.7:0:0:74:70:34:XM_003118845.2(C1orf167) c.939A>G (p.(=)),XM_003118845.2(C1orf167) c.939A>G (p.(=)):0.97,0.97:NOT_FOUND,NOT_FOUND 1 11827322 . G . . NT END=11828133;NT GT ./. 1 11827355 rs6540997 A G 178 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.367,G/0.633;PC=0.001;Gene=C1orf167/NM_001010881.1/1;CC=c.1343+34A>G;VC=Intron;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G,T:50:21:0:0:49,1:1549,9:177.83,0.15:50.57,0.15:127.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.0,132.0:0,0:0,0:95,67:51,84:29,0:XM_003118845.2(C1orf167) c.956+34A>G,XM_003118845.2(C1orf167) c.956+34A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 11827832 rs4846038 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.03175,A/0.9683;Gene=C1orf167/NM_001010881.1/1;CC=c.1344-302G>A;VC=Intron;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:107:12.57:12.57:0.00:1.00:1.00:0.00:60:71.5:0:0:30:120:11:XM_003118845.2(C1orf167) c.957-302G>A,XM_003118845.2(C1orf167) c.957-302G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 11828238 rs4845880 G A 425 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.3894,A/0.6106;Gene=C1orf167/NM_001010881.1/1;CC=c.1448G>A;ProtCh=p.R483Q;VC=Missense;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:115:86:0:0:115:3708:425.43:245.55:179.88:1.00:1.00:1.00:60:53.4:0:0:70:79:39:XM_003118845.2(C1orf167) c.1061G>A (p.Arg354Gln),XM_003118845.2(C1orf167) c.1061G>A (p.Arg354Gln):0.67,0.67:NOT_FOUND,NOT_FOUND 1 11828319 rs4845881 G A 362 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.3882,A/0.6118;PC=0.104;Gene=C1orf167/NM_001010881.1/1;CC=c.1529G>A;ProtCh=p.R510Q;VC=Missense;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:95:58:0:0:95:3164:361.61:144.37:217.24:1.00:1.00:1.00:60:58.6:0:0:93:50:26:XM_003118845.2(C1orf167) c.1142G>A (p.Arg381Gln),XM_003118845.2(C1orf167) c.1142G>A (p.Arg381Gln):0.67,0.67:NOT_FOUND,NOT_FOUND 1 11828333 . G . . NT END=11829029;NT GT ./. 1 11829185 . G . . NT END=11831580;NT GT ./. 1 11831615 rs6667720 C T 206 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.3037,T/0.6963;Gene=C1orf167/NM_001010881.1/1;CC=c.1732C>T;ProtCh=p.R578W;VC=Missense;DM=C1orf167/DUF4684;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:A,T:56:41:0:0:1,55:13,1805:0.30,206.26:0.00,105.81:0.30,100.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,40.0:0,0:0,0:11,44:140,104:0,18:XM_003118845.2(C1orf167) c.1200-524C>T,XM_003118845.2(C1orf167) c.1200-524C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 11831694 . G . . NT END=11832138;NT GT ./. 1 11831756 rs6680385 A G 94 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3019,G/0.6981;Gene=C1orf167/NM_001010881.1/1;CC=c.1810+63A>G;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:7:0:0:25:823:94.18:16.95:77.23:1.00:1.00:1.00:60:43.2:0:0:104:47:29:XM_003118845.2(C1orf167) c.1200-383A>G,XM_003118845.2(C1orf167) c.1200-383A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 11832100 rs11121827 T A 175 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.4313,A/0.5687;PC=0.005;Gene=C1orf167/NM_001010881.1/1;CC=c.1811-39T>A;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:43:0:0:46:1532:175.12:135.36:39.76:1.00:1.00:1.00:60:39.7:0:0:52:98:32:XM_003118845.2(C1orf167) c.1200-39T>A,XM_003118845.2(C1orf167) c.1200-39T>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 11832311 rs10779764 G C 305 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.4315,C/0.5685;PC=0.104;Gene=C1orf167/NM_001010881.1/1;CC=c.1983G>C;ProtCh=p.L661=;VC=Silent;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:80:31:0:0:80:2672:305.26:81.03:224.24:1.00:1.00:1.00:60:42.6:0:0:100:48:24:XM_003118845.2(C1orf167) c.1372G>C (p.Val458Leu),XM_003118845.2(C1orf167) c.1372G>C (p.Val458Leu):0.64,0.64:NOT_FOUND,NOT_FOUND 1 11832317 . G . . NT END=11835491;NT GT ./. 1 11832488 rs398089126 AT A 39 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=31;PC=0.002;Gene=C1orf167/NM_001010881.1/1;CC=c.1988+179delT;VC=Intron;DM=C1orf167/DUF4684;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:AT,A:13:0:0:11:2,11:65,359:0.00,38.72:0.00,0.00:0.00,38.72:0.00,1.00:0.00,0.00:0.00,1.00:60,60:46.5,2.9:0,0:0,0:142,104:5,47:2,16:-,XM_003118845.2(C1orf167) c.1377+173delT:-,NOT_FOUND:-,NOT_FOUND 1 11835187 rs61464741 CA C 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CA/0.3129,C/0.6871;NP=3;PC=0.005;Gene=C1orf167/NM_001010881.1/1;CC=c.1989-296delA;VC=Intron;DM=C1orf167/DUF4684;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CA,C:5:4:0:3:2,3:41,100:0.00,9.98:0.00,8.55:0.00,1.43:0.00,0.78:0.00,0.97:0.00,0.87:60,60:69.0,35.0:0,0:0,0:147,70:3,81:2,21:-,XM_003118845.2(C1orf167) c.1378-304delA:-,0.72:-,NOT_FOUND 1 11835668 . G . . NT END=11836520;NT GT ./. 1 11835935 rs6696752 T C 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2999,C/0.7001;Gene=C1orf167/NM_001010881.1/1;CC=c.2164+268T>C;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:142:16.56:0.00:16.56:1.00:0.00:1.00:60:39.8:0:0:52:99:24:XM_003118849.2(LOC100506310) c.67+268T>C,XM_003118849.2(LOC100506310) c.67+268T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 11836318 rs6659425 G A 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.06629,A/0.9337;PC=0.011;Gene=C1orf167/NM_001010881.1/1;CC=c.2165-203G>A;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:437:50.37:50.37:0.00:1.00:1.00:0.00:60:63.9:0:0:30:119:26:XM_003118849.2(LOC100506310) c.68-203G>A,XM_003118849.2(LOC100506310) c.68-203G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 11836441 rs6699669 T C 160 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.06689,C/0.9331;Gene=C1orf167/NM_001010881.1/1;CC=c.2165-80T>C;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:42:0:0:45:1388:160.18:134.22:25.95:1.00:1.00:1.00:60:75.6:0:0:44:107:27:XM_003118849.2(LOC100506310) c.68-80T>C,XM_003118849.2(LOC100506310) c.68-80T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 11836442 rs6659541 G A 172 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.4301,A/0.5699;PC=0.001;Gene=C1orf167/NM_001010881.1/1;CC=c.2165-79G>A;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:43:0:0:46:1502:172.10:146.65:25.45:1.00:1.00:1.00:60:74.5:0:0:46:103:31:XM_003118849.2(LOC100506310) c.68-79G>A,XM_003118849.2(LOC100506310) c.68-79G>A:0.61,0.61:NOT_FOUND,NOT_FOUND 1 11836628 rs6699881 T C 401 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.2999,C/0.7001;PC=0.007;Gene=C1orf167/NM_001010881.1/1;CC=c.2272T>C;ProtCh=p.W758R;VC=Missense;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,D:114:75:0:1:1,112,1:13,3488,23:0.18,401.26,0.80:0.00,191.10,0.00:0.18,210.16,0.80:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:91.0,55.4,141.0:0,0,0:0,0,0:51,85,82:100,60,69:0,38,0:XM_003118849.2(LOC100506310) c.175T>C (p.Trp59Arg),XM_003118849.2(LOC100506310) c.175T>C (p.Trp59Arg):0.74,0.74:NOT_FOUND,NOT_FOUND 1 11836682 rs7538516 C T 343 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=C/0.4295,T/0.5705;PC=0.036;Gene=C1orf167/NM_001010881.1/1;CC=c.2326C>T;ProtCh=p.R776C;VC=Missense;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:96:53:0:0:96:2972:342.79:124.43:218.36:1.00:1.00:1.00:60:65.4:0:0:79:67:33:XM_003118849.2(LOC100506310) c.229C>T (p.Arg77Cys),XM_003118849.2(LOC100506310) c.229C>T (p.Arg77Cys):0.64,0.64:NOT_FOUND,NOT_FOUND 1 11836696 . G . . NT END=11838716;NT GT ./. 1 11836868 rs4846039 A G 62 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2999,G/0.7001;Gene=C1orf167/NM_001010881.1/1;CC=c.2339+173A>G;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:0:0:0:16:547:62.33:0.00:62.33:1.00:0.00:1.00:60:38.9:0:0:123:27:20:XM_003118849.2(LOC100506310) c.242+173A>G,XM_003118849.2(LOC100506310) c.242+173A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 11838848 rs6697244 G T 378 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=G/0.4293,T/0.5707;Gene=C1orf167/NM_001010881.1/1;CC=c.2471G>T;ProtCh=p.S824I;VC=Missense;Gene=LOC102724659/NR_126000.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:114:76:0:0:2,1,111:19,8,3281:0.29,0.00,378.24:0.00,0.00,229.59:0.29,0.00,148.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:130.5,53.0,48.2:0,0,0:0,0,0:43,13,75:95,138,67:8,0,35:XM_003118849.2(LOC100506310) c.374G>T (p.Ser125Ile),XM_003118849.2(LOC100506310) c.374G>T (p.Ser125Ile):0.64,0.64:NOT_FOUND,NOT_FOUND 1 11838874 . g . . NT END=11838982;NT GT ./. 1 11839138 . G . . NT END=11839858;NT GT ./. 1 11839435 rs10779766 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.09365,C/0.9063;PC=0.001;Gene=C1orf167/NM_001010881.1/1;CC=c.2651+298T>C;VC=Intron;Gene=LOC102724659/NR_126000.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:38.5:0:0:121:29:24:XM_003118849.2(LOC100506310) c.554+298T>C,XM_003118849.2(LOC100506310) c.554+298T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 11839966 rs4846043 G A 343 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.4301,A/0.5699;PC=0.022;Gene=C1orf167/NM_001010881.1/1;CC=c.2759G>A;ProtCh=p.R920H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:93:66:0:0:93:2988:343.04:161.64:181.40:1.00:1.00:1.00:60:67.6:0:0:63:81:38:XM_003118849.2(LOC100506310) c.662G>A (p.Arg221His),XM_003118849.2(LOC100506310) c.662G>A (p.Arg221His):0.64,0.64:NOT_FOUND,NOT_FOUND 1 11839998 rs4846044 T C 332 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.1202,C/0.8798;Gene=C1orf167/NM_001010881.1/1;CC=c.2791T>C;ProtCh=p.W931R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:92:58:0:0:91,1:2888,9:331.55,0.09:137.23,0.09:194.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.2,87.0:0,0:0,0:73,22:68,129:32,0:XM_003118849.2(LOC100506310) c.694T>C (p.Trp232Arg),XM_003118849.2(LOC100506310) c.694T>C (p.Trp232Arg):0.9,0.9:NOT_FOUND,NOT_FOUND 1 11840068 . G . . NT END=11842245;NT GT ./. 1 11842144 rs10864542 C G 125 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.4303,G/0.5697;Gene=C1orf167/NM_001010881.1/1;CC=c.2861-102C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G,T:36:35:0:0:35,1:1086,8:124.71,0.15:108.80,0.15:15.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,19.0:0,0:0,0:46,43:105,108:29,0:XM_003118849.2(LOC100506310) c.764-102C>G,XM_003118849.2(LOC100506310) c.764-102C>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 11842391 . G . . NT END=11844230;NT GT ./. 1 11844330 rs10864543 C T 621 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=164;DB;DBA=NA;PAF=C/0.502,T/0.498;Gene=C1orf167/NM_001010881.1/1;CC=c.3105C>T;ProtCh=p.A1035=;VC=Silent;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:164:123:0:0:164:5432:621.20:340.87:280.34:1.00:1.00:1.00:60:39.7:0:0:76:69:41:XM_003118849.2(LOC100506310) c.1008C>T (p.(=)),XM_003118849.2(LOC100506310) c.1008C>T (p.(=)):0.59,0.59:NOT_FOUND,NOT_FOUND 1 11844651 . G . . NT END=11845204;NT GT ./. 1 11844827 rs4845883 A G 59 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.06649,G/0.9335;PC=0.010;Gene=C1orf167/NM_001010881.1/1;CC=c.3425+177A>G;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:1:0:0:16:519:59.46:1.32:58.14:1.00:1.00:1.00:60:36.3:0:0:115:35:23:XM_003118849.2(LOC100506310) c.1328+177A>G,XM_003118849.2(LOC100506310) c.1328+177A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 11845113 rs11587953 G A 80 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.06649,A/0.9335;Gene=C1orf167/NM_001010881.1/1;CC=c.3426-92G>A;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:22:0:0:22:694:79.85:73.99:5.87:1.00:1.00:1.00:60:79.8:0:0:44:105:30:XM_003118849.2(LOC100506310) c.1329-92G>A,XM_003118849.2(LOC100506310) c.1329-92G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 11845169 rs11586659 T G 156 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.3452,G/0.6548;PC=0.001;Gene=C1orf167/NM_001010881.1/1;CC=c.3426-36T>G;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:41:0:0:44:1355:156.33:132.42:23.91:1.00:1.00:1.00:60:61.7:0:0:44:104:25:XM_003118849.2(LOC100506310) c.1329-36T>G,XM_003118849.2(LOC100506310) c.1329-36T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 11845347 . G . . NT END=11847444;NT GT ./. 1 11845518 rs2151655 G C 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2943,C/0.7057;Gene=C1orf167/NM_001010881.1/1;CC=c.3567+172G>C;VC=Intron;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C,T:15:0:0:0:14,1:343,13:40.37,0.68:0.00,0.00:40.37,0.68:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.0,115.0:0,0:0,0:95,4:55,146:34,0:XM_003118849.2(LOC100506310) c.1470+172G>C,XM_003118849.2(LOC100506310) c.1470+172G>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 11847334 rs70983598 G GGAA 57 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.4299,GGAA/0.5701,GGGAA/.;DB;DBA=NA;PAF=G/0.4299,GGAA/0.5701;NP=72;Gene=C1orf167/NM_001010881.1/1;CC=c.3568-108_3568-106dupAGA;VC=Intron;Gene=MTHFR/NM_005957.4/1;CC=c.*3400_*3402dupTTC;VC=3UTR;DM=C1orf167/DUF4684;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:GGAA:16:16:16:0:16:496:57.23:57.23:0.00:1.00:1.00:0.00:60:7.2:0:0:58:92:21:NM_005957.4(MTHFR) c.*3400_*3402dupTTC,NM_005957.4(MTHFR) c.*3400_*3402dupTTC:0.64,0.64:NOT_FOUND,NOT_FOUND 1 11847551 . G . . NT END=11847929;NT GT ./. 1 11847759 rs3737966 C T 109 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4415,T/0.5585;Gene=C1orf167/NM_001010881.1/1;CC=c.3674-171C>T;VC=Intron;Gene=MTHFR/NM_005957.4/1;CC=c.*2978G>A;VC=3UTR;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G,T:31:25:0:0:1,30:9,951:0.21,108.98:0.21,78.35:0.00,30.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:103.0,46.4:0,0:0,0:33,31:118,119:0,24:NM_005957.4(MTHFR) c.*2978G>A,NM_005957.4(MTHFR) c.*2978G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 11848105 . G . . NT END=11848205;NT GT ./. 1 11848436 . G . . NT END=11848708;NT GT ./. 1 11848804 . G . . NT END=11849326;NT GT ./. 1 11848879 rs2077360 A G 127 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.06949,G/0.9305;Gene=C1orf167/NM_001010881.1/1;CC=c.4173+76A>G;VC=Intron;Gene=MTHFR/NM_005957.4/1;CC=c.*1858T>C;VC=3UTR;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:G:36:5:0:0:36:1099:126.80:11.68:115.12:1.00:1.00:1.00:60:40.2:0:0:96:54:29:NM_005957.4(MTHFR) c.*1858T>C,NM_005957.4(MTHFR) c.*1858T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 11849447 rs868014 A G 539 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=A/0.06709,G/0.9329;Gene=C1orf167/NM_001010881.1/1;CC=c.4294A>G;ProtCh=p.R1432G;VC=Missense;Gene=MTHFR/NM_005957.4/1;CC=c.*1290T>C;VC=3UTR;DM=C1orf167/DUF4684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:150:95:0:0:150:4678:538.96:211.88:327.09:1.00:1.00:1.00:60:39.6:0:0:75:71:28:XM_003118849.2(LOC100506310) c.2182A>G (p.Arg728Gly),XM_003118849.2(LOC100506310) c.2182A>G (p.Arg728Gly):0.95,0.95:NOT_FOUND,NOT_FOUND 1 11849504 . C . . NT END=11850596;NT GT ./. 1 11850365 rs4846049 T G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3716,G/0.6284;Gene=MTHFR/NM_005957.4/1;CC=c.*372A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:127:15.02:15.02:0.00:1.00:1.00:0.00:60:39.2:0:0:40:111:23:NM_005957.4(MTHFR) c.*372A>C,NM_005957.4(MTHFR) c.*372A>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 11850956 . C . . NT END=11851263;NT GT ./. 1 11851118 rs7518348 A G 135 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.09784,G/0.9022;Gene=MTHFR/NM_005957.4/1;CC=c.1752+146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C,G:40:23:0:0:1,39:10,1171:0.22,134.94:0.00,75.49:0.22,59.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.0,46.9:0,0:0,0:89,63:38,85:0,33:NM_005957.4(MTHFR) c.1752+146T>C,NM_005957.4(MTHFR) c.1752+146T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 11851384 . C . . NT END=11852334;NT GT ./. 1 11852437 . C . . NT END=11853963;NT GT ./. 1 11854147 . C . . NT END=11854414;NT GT ./. 1 11854457 rs4846051 G A 300 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.09704,A/0.903;PC=0.999;Gene=MTHFR/NM_005957.4/1;CC=c.1305C>T;ProtCh=p.F435=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:82:53:0:0:80,1,1:2624,13,14:299.68,0.22,0.27:139.83,0.22,0.27:159.85,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.4,92.0,14.0:0,0,0:0,0,0:81,112,146:65,10,2:25,0,0:NM_005957.4(MTHFR) c.1305C>T (p.(=)),NM_005957.4(MTHFR) c.1305C>T (p.(=)):0.93,0.93:0.890512,0.890512 1 11854596 . C . . NT END=11854785;NT GT ./. 1 11854755 rs1994798 G A 225 nt VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.4207,A/0.5793;Gene=MTHFR/NM_005957.4/1;CC=c.1166+31C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:A:60:44:0:0:60:1967:225.31:121.45:103.86:1.00:1.00:1.00:60:37.2:0:0:57:86:28:NM_005957.4(MTHFR) c.1166+31C>T,NM_005957.4(MTHFR) c.1166+31C>T:0.64,0.64:0.535753,0.535753 1 11854921 . C . . NT END=11855154;NT GT ./. 1 11855406 . C . . NT END=11856262;NT GT ./. 1 11856378 rs1801133 G A 291 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=85;DB;DBA=in-clinvar;PAF=G/0.7546,A/0.2454;PC=1.000;Gene=MTHFR/NM_005957.4/1;CC=c.665C>T;ProtCh=p.A222V;VC=Missense;DM=MTHFR/MTHFR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:85:58:0:0:83,1,1:2525,10,10:290.92,0.12,0.12:137.14,0.00,0.00:153.78,0.12,0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.7,50.0,88.0:0,0,0:0,0,0:87,118,64:60,26,87:33,0,0:NM_005957.4(MTHFR) c.665C>T (p.Ala222Val),NM_005957.4(MTHFR) c.665C>T (p.Ala222Val):0.32,0.32:0.270567,0.270567 1 11856457 . C . . NT END=11860268;NT GT ./. 1 11860120 rs11121832 T C 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2408,C/0.7592;Gene=MTHFR/NM_005957.4/1;CC=c.586+149A>G;VC=Intron;DM=MTHFR/MTHFR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:631:72.16:72.16:0.00:1.00:1.00:0.00:60:36.2:0:0:65:84:36:NM_005957.4(MTHFR) c.586+149A>G,NM_005957.4(MTHFR) c.586+149A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 11860380 . C . . NT END=11861217;NT GT ./. 1 11861474 . C . . NT END=11862937;NT GT ./. 1 11863572 . C . . NT END=11866319;NT GT ./. 1 11866407 . G . . NT END=11867187;NT GT ./. 1 11867044 rs3737964 T C 96 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2314,C/0.7686,G/.;Gene=CLCN6/NM_001256959.1/0;CC=c.88-144T>C;VC=Intron;Gene=CLCN6/NM_001286.3/1;CC=c.88-144T>C;VC=Intron;Gene=CLCN6/NR_046428.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:27:0:0:27:836:96.44:94.56:1.89:1.00:1.00:1.00:60:34.3:0:0:64:87:31:NM_001286.3(CLCN6) c.88-144T>C,NM_001286.3(CLCN6) c.88-144T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 11867248 . G . . NT END=11875902;NT GT ./. 1 11875969 . G . . NT END=11876671;NT GT ./. 1 11876417 rs198391 C T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4065,T/0.5935;Gene=CLCN6/NM_001256959.1/0;CC=c.148-255C>T;VC=Intron;Gene=CLCN6/NM_001286.3/1;CC=c.214-255C>T;VC=Intron;Gene=CLCN6/NR_046428.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:32.5:0:0:58:92:13:NM_001286.3(CLCN6) c.214-255C>T,NM_001286.3(CLCN6) c.214-255C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 11876738 . G . . NT END=11879544;NT GT ./. 1 11879612 . G . . NT END=11882751;NT GT ./. 1 11882859 . G . . NT END=11883763;NT GT ./. 1 11883891 . G . . NT END=11884542;NT GT ./. 1 11884555 rs198400 A G 205 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=3470;PC=1.000;Gene=CLCN6/NM_001256959.1/0;CC=c.527A>G;ProtCh=p.E176G;VC=Missense;Gene=CLCN6/NM_001286.3/1;CC=c.593A>G;ProtCh=p.E198G;VC=Missense;Gene=CLCN6/NR_046428.1/0;VC=NonCoding;DM=CLCN6/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:G:58:47:0:0:58:1780:205.48:118.47:87.02:1.00:1.00:1.00:60:39.9:0:0:70:77:27:NM_001286.3(CLCN6) c.=,NM_001286.3(CLCN6) c.=:1,1:0.999154,0.999154 1 11884611 . G . . NT END=11886212;NT GT ./. 1 11886282 . G . . NT END=11887145;NT GT ./. 1 11887279 . G . . NT END=11888162;NT GT ./. 1 11888277 . G . . NT END=11888514;NT GT ./. 1 11888682 . G . . NT END=11889252;NT GT ./. 1 11889380 . G . . NT END=11893571;NT GT ./. 1 11893696 . G . . NT END=11893933;NT GT ./. 1 11894088 . G . . NT END=11894292;NT GT ./. 1 11894453 . G . . NT END=11894540;NT GT ./. 1 11894648 . G . . NT END=11896023;NT GT ./. 1 11896211 . G . . NT END=11897055;NT GT ./. 1 11897214 . G . . NT END=11897399;NT GT ./. 1 11897557 . G . . NT END=11898391;NT GT ./. 1 11898500 . G . . NT END=11898591;NT GT ./. 1 11898718 . G . . NT END=11900199;NT GT ./. 1 11900035 rs198410 G A 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2081;Gene=CLCN6/NM_001256959.1/0;CC=c.2464-165G>A;VC=Intron;Gene=CLCN6/NM_001286.3/1;CC=c.2530-165G>A;VC=Intron;Gene=CLCN6/NR_046428.1/0;VC=NonCoding;DM=CLCN6/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:33.2:0:0:42:109:31:NM_001286.3(CLCN6) c.2530-165G>A,NM_001286.3(CLCN6) c.2530-165G>A:1,1:NOT_FOUND,NOT_FOUND 1 11900281 . C . . NT END=11906065;NT GT ./. 1 11906072 . C . . NT END=11907169;NT GT ./. 1 11906960 rs198369 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5843,C/0.4157;Gene=NPPA-AS1/NR_037806.1/0;VC=NonCoding;Gene=NPPA/NM_006172.3/1;CC=c.450+210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,T:9:8:0:0:5,4:162,117:15.90,0.00:16.25,0.00:-0.35,0.00:0.96,0.00:1.00,0.00:0.70,0.00:60,60:49.8,32.0:0,0:0,0:86,35:36,115:18,14:NM_006172.3(NPPA) c.450+210A>G,-:0.34,-:NOT_FOUND,- 1 11906968 rs146837644 GC G 7 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GC/0.8622,G/0.1378;NP=401;Gene=NPPA-AS1/NR_037806.1/0;VC=NonCoding;Gene=NPPA/NM_006172.3/1;CC=c.450+201delG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,GC,G:8:7:0:3:1,4,3:10,94,81:0.40,0.00,7.45:0.40,0.00,4.49:0.00,0.00,2.95:0.00,0.00,0.67:0.00,0.00,0.95:0.00,0.00,0.58:54,60,60:61.0,47.0,42.7:0,1,0:0,0,0:112,89,43:28,33,107:0,14,1:-,NM_006172.3(NPPA) c.450+201delG:-,NOT_FOUND:-,NOT_FOUND 1 11907497 . C . . NT END=11907618;NT GT ./. 1 11907742 . G . . NT END=11917711;NT GT ./. 1 11917729 . C . . NT END=11918270;NT GT ./. 1 11918527 . C . . NT END=11918758;NT GT ./. 1 11918891 . G . . NT END=11980371;NT GT ./. 1 11938211 rs57077193 C A 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5,A/0.5;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,C:4:4:0:0:2,2:66,47:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:113.0,30.0:0,0:0,0:40,60:110,91:28,46:chr1 g.11938210C>A (intergenic),-:0.44,-:NOT_FOUND,- 1 11938340 rs61359664 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.4293,C/0.5707;PC=0.976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:C,G,T:14:14:0:0:3,1,10:99,12,328:8.28,0.29,0.00:8.28,0.29,0.00:0.00,0.00,0.00:0.56,0.00,0.00:0.56,0.00,0.00:0.00,0.00,0.00:60,60,60:82.3,21.0,5.1:0,0,0:0,0,0:55,6,35:96,145,115:6,0,15:chr1 g.11938339T>C (intergenic),-:0.53,-:NOT_FOUND,- 1 11938756 rs885770 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4093,C/0.5907 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:7:1:0:0:5,2:153,67:15.87,0.00:-0.54,0.00:16.41,0.00:0.98,0.00:0.81,0.00:1.00,0.00:60,60:30.6,0.0:0,0:0,0:102,62:48,88:26,30:chr1 g.11938755T>C (intergenic),-:0.55,-:NOT_FOUND,- 1 11938866 rs2008113 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4087,G/0.5913;PC=0.933 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,G:11:10:0:0:6,5:196,153:0.00,14.39:0.00,14.79:0.00,-0.39:0.00,0.93:0.00,0.99:0.00,0.75:60,60:7.5,43.6:0,0:0,0:62,63:84,88:33,22:-,chr1 g.11938865A>G (intergenic):-,0.55:-,NOT_FOUND 1 11939720 rs28455075 G A 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5956,A/0.4044;PC=0.907 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:A,G:12:6:0:0:7,5:239,149:23.72,0.00:2.79,0.00:20.92,0.00:0.99,0.00:0.99,0.00:1.00,0.00:60,60:34.1,28.8:0,0:0,0:102,108:49,32:7,34:chr1 g.11939719G>A (intergenic),-:0.38,-:NOT_FOUND,- 1 11980390 . C . . NT END=11982361;NT GT ./. 1 11982373 rs1137777 A G 91 lc VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.618,G/0.382;PC=0.099;Gene=KIAA2013/NM_138346.2/1;CC=c.1887+320T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:54:0:0:27,30:850,942:0.00,91.35:0.00,73.60:0.00,17.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,39.9:0,0:0,0:54,48:94,103:28,43:-,NM_138346.2(KIAA2013) c.1887+320T>C:-,0.36:-,NOT_FOUND 1 11982544 rs2639453 T C 448 lc VT=SNV;PN=G;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.1791,C/0.8209;Gene=KIAA2013/NM_138346.2/1;CC=c.1887+149A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:122:86:0:0:122:3897:447.51:237.82:209.69:1.00:1.00:1.00:60:42.1:0:0:80:68:39:NM_138346.2(KIAA2013) c.1887+149A>G,NM_138346.2(KIAA2013) c.1887+149A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 11983206 rs3795408 A G 187 lc VT=SNV;PN=C;NN=A;SST=Single;DP=152;DB;DBA=NA;PAF=A/0.3247,G/0.6753;PC=1.000;Gene=KIAA2013/NM_138346.2/1;CC=c.1374T>C;ProtCh=p.F458=;VC=Silent;DM=KIAA2013/DUF2152 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:152:106:0:0:86,1,65:2724,12,2012:0.00,-0.15,187.39:0.00,-0.03,94.75:0.00,-0.11,92.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,60:8.3,160.0,38.9:0,0,0:0,0,0:79,76,73:69,41,78:27,0,37:-,NM_138346.2(KIAA2013) c.1374T>C (p.(=)):-,0.57:-,0.593349 1 11983547 . C . . NT END=11985261;NT GT ./. 1 11986295 . C . . NT END=11994836;NT GT ./. 1 11986535 rs61776480 G A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5044,A/0.4956;PC=0.176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:6:1:0:0:4,2:90,62:9.22,0.00:1.58,0.00:7.64,0.00:0.93,0.00:0.78,0.00:0.99,0.00:60,60:38.5,26.0:0,0:0,0:113,76:36,54:14,69:NM_138346.2(KIAA2013) c.-191-u50C>T,-:0.46,-:NOT_FOUND,- 1 11986553 rs79841670 A AG 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=16;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AG:4:0:4:0:4:124:14.31:0.00:14.31:1.00:0.00:1.00:60:35.2:0:0:117:33:14:NM_138346.2(KIAA2013) c.-191-u69_-191-u68insC,NM_138346.2(KIAA2013) c.-191-u69_-191-u68insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 11994913 . G . . NT END=12004578;NT GT ./. 1 11995176 rs1208984 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6142,G/0.3858;Gene=PLOD1/NM_000302.3/1;CC=c.76+264A>G;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.76+264A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,G:12:0:0:0:7,5:201,174:0.00,16.25:0.00,0.00:0.00,16.25:0.00,0.92:0.00,0.00:0.00,0.92:60,60:34.7,46.0:0,0:0,0:108,105:43,46:11,10:-,NM_000302.3(PLOD1) c.76+264A>G:-,0.36:-,NOT_FOUND 1 12004479 rs6143123 T TACACACAC 21 idl,nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;Gene=PLOD1/NM_000302.3/1;CC=c.77-3522_77-3521insACACACAC;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.77-68_77-67insACACACAC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:T,TACACACAC,D:27:24:10:5:15,8,4:375,294,147:0.00,21.22,8.99:0.00,18.69,4.80:0.00,2.53,4.19:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.82,0.00:60,60,60:27.6,15.1,2.2:0,2,1:0,0,0:83,31,16:65,119,103:31,12,13:-,NM_000302.3(PLOD1) c.77-3554_77-3553insACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 12004720 . G . . NT END=12008032;NT GT ./. 1 12008125 . G . . NT END=12009829;NT GT ./. 1 12009955 rs7529452 C T 100 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.7322,T/0.2678;PC=0.709;Gene=PLOD1/NM_000302.3/1;CC=c.294C>T;ProtCh=p.F98=;VC=Silent;Gene=PLOD1/NM_001316320/0;CC=c.435C>T;ProtCh=p.F145=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:93:60:0:0:59,34:1877,1103:0.00,99.98:0.00,45.88:0.00,54.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,41.7:0,0:0,0:96,102:52,43:33,30:-,NM_000302.3(PLOD1) c.294C>T (p.(=)):-,0.25:-,0.229279 1 12009964 . G . . NT END=12010413;NT GT ./. 1 12010578 . G . . NT END=12012679;NT GT ./. 1 12010778 rs60895266 A G 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3742,G/0.6258;Gene=PLOD1/NM_000302.3/1;CC=c.466+201A>G;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.607+201A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,G:13:0:0:0:7,6:188,153:0.00,14.24:0.00,0.00:0.00,14.24:0.00,0.97:0.00,0.00:0.00,0.97:60,60:8.1,57.7:0,0:0,0:89,66:62,83:15,13:-,NM_000302.3(PLOD1) c.466+201A>G:-,0.57:-,NOT_FOUND 1 12012793 . G . . NT END=12014886;NT GT ./. 1 12012980 rs58495963 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7005,A/0.2995;PC=0.140;Gene=PLOD1/NM_000302.3/1;CC=c.579+188G>A;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.720+188G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:7:0:0:0:4,3:139,99:13.73,0.00:0.00,0.00:13.73,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:34.8,4.7:0,0:0,0:118,98:33,52:11,20:NM_000302.3(PLOD1) c.579+188G>A,-:0.29,-:NOT_FOUND,- 1 12014951 . G . . NT END=12016973;NT GT ./. 1 12017072 . G . . NT END=12017898;NT GT ./. 1 12018001 . G . . NT END=12018572;NT GT ./. 1 12018378 rs2273290 C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7025,G/0.2975;Gene=PLOD1/NM_000302.3/1;CC=c.844-195C>G;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.985-195C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,G:11:11:0:0:7,4:237,140:0.00,12.78:0.00,12.78:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:34.6,46.2:0,0:0,0:34,70:92,80:25,22:-,NM_000302.3(PLOD1) c.844-195C>G:-,0.28:-,NOT_FOUND 1 12018705 . G . . NT END=12020702;NT GT ./. 1 12020825 . G . . NT END=12023588;NT GT ./. 1 12023694 . G . . NT END=12024231;NT GT ./. 1 12024235 rs1130529 C T 103 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.6516,T/0.3484;Gene=PLOD1/NM_000302.3/1;CC=c.1206C>T;ProtCh=p.N402=;VC=Silent;Gene=PLOD1/NM_001316320/0;CC=c.1347C>T;ProtCh=p.N449=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:64:0:0:46,34:1400,1102:0.00,102.75:0.00,61.92:0.00,40.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,42.2:0,0:0,0:66,52:81,98:37,37:-,NM_000302.3(PLOD1) c.1206C>T (p.(=)):-,0.32:-,0.31078 1 12024358 . G . . NT END=12024700;NT GT ./. 1 12024843 . G . . NT END=12025536;NT GT ./. 1 12025651 . G . . NT END=12026307;NT GT ./. 1 12026090 rs6678553 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3425,G/0.6575;Gene=PLOD1/NM_000302.3/1;CC=c.1585-218A>G;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.1726-218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:6:6:0:0:2,4:61,132:0.00,13.45:0.00,13.45:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,33.0:0,0:0,0:39,55:111,96:6,5:-,NM_000302.3(PLOD1) c.1585-218A>G:-,0.58:-,NOT_FOUND 1 12026374 . G . . NT END=12027043;NT GT ./. 1 12027149 . G . . NT END=12030726;NT GT ./. 1 12027204 rs2273293 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4361,T/0.5639;Gene=PLOD1/NM_000302.3/1;CC=c.1755+56C>T;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.1896+56C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:2:0:0:13,9:371,281:0.00,25.93:0.00,1.73:0.00,24.20:0.00,1.00:0.00,0.71:0.00,1.00:60,60:10.2,59.4:0,0:0,0:121,116:30,35:23,20:-,NM_000302.3(PLOD1) c.1755+56C>T:-,0.51:-,NOT_FOUND 1 12030874 . G . . NT END=12032928;NT GT ./. 1 12033055 . G . . NT END=12034709;NT GT ./. 1 12033113 rs3737961 A G 91 nt VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.3502,G/0.6498;Gene=PLOD1/NM_000302.3/1;CC=c.2028+59A>G;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.2169+59A>G;VC=Intron;DM=PLOD1/2OG-FeII_Oxy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:66:28:0:0:35,1,30:1144,11,957:0.00,-0.05,90.51:0.00,0.14,29.96:0.00,-0.19,60.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.0,24.0,66.0:0,0,0:0,0,0:92,127,104:59,22,39:28,0,23:-,NM_000302.3(PLOD1) c.2028+59A>G:-,0.58:-,NOT_FOUND 1 12033120 rs3820190 G C 90 nt VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.3407,C/0.6593;PC=0.031;Gene=PLOD1/NM_000302.3/1;CC=c.2028+66G>C;VC=Intron;Gene=PLOD1/NM_001316320/0;CC=c.2169+66G>C;VC=Intron;DM=PLOD1/2OG-FeII_Oxy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:65:26:0:0:29,36:960,1191:90.44,0.00:30.85,0.00:59.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.5,7.2:0,0:0,0:110,98:33,52:22,31:NM_000302.3(PLOD1) c.2028+66G>C,-:0.59,-:NOT_FOUND,- 1 12034866 . T . . NT END=12049225;NT GT ./. 1 12048130 rs7551874 A G 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.346,G/0.654;PC=0.063;Gene=MFN2/NM_001127660.1/0;CC=c.-4-1092A>G;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.-4-1092A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:210:23.86:13.67:10.19:1.00:1.00:1.00:60:70.0:0:0:52:76:31:NM_014874.3(MFN2) c.-4-1092A>G,NM_014874.3(MFN2) c.-4-1092A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 12048139 rs79521648 T TTGTGTG 9 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.037;Gene=MFN2/NM_001127660.1/0;CC=c.-4-1082_-4-1081insGTGTGT;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.-4-1082_-4-1081insGTGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TTGTGTG:4:5:5:0:1,3:34,156:0.00,9.13:0.00,9.23:0.00,-0.10:0.00,0.73:0.00,0.96:0.00,0.51:60,60:67.0,116.3:0,2:0,0:141,52:10,53:0,35:-,NM_014874.3(MFN2) c.-4-1083_-4-1082insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 12048141 rs72641021 T G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4091,TG/.,TGTG/0.5909,TTG/.;DB;DBA=NA;PAF=T/0.5361,G/0.4639;PC=0.002;Gene=MFN2/NM_001127660.1/0;CC=c.-4-1081T>G;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.-4-1081T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:186:21.43:11.54:9.89:1.00:1.00:1.00:60:69.7:2:0:68:59:31:NM_014874.3(MFN2) c.-4-1081T>G,NM_014874.3(MFN2) c.-4-1081T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 12049401 . G . . NT END=12052611;NT GT ./. 1 12052405 rs6675934 G A 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.05471,A/0.9453;PC=0.002;Gene=MFN2/NM_001127660.1/0;CC=c.176-207G>A;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.176-207G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:0:14:439:50.53:50.53:0.00:1.00:1.00:0.00:60:45.3:0:0:86:64:16:NM_014874.3(MFN2) c.176-207G>A,NM_014874.3(MFN2) c.176-207G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 12052748 . G . . NT END=12056212;NT GT ./. 1 12056376 . G . . NT END=12057353;NT GT ./. 1 12056440 rs2236056 C T 230 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.3464,T/0.6536;Gene=MFN2/NM_001127660.1/0;CC=c.474+65C>T;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.474+65C>T;VC=Intron;DM=MFN2/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:T:62:20:0:0:62:2009:230.40:48.85:181.55:1.00:1.00:1.00:60:37.4:0:0:106:43:27:NM_014874.3(MFN2) c.474+65C>T,NM_014874.3(MFN2) c.474+65C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 12057095 rs35141271 CA C 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;Gene=MFN2/NM_001127660.1/0;CC=c.475-240delA;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.475-240delA;VC=Intron;DM=MFN2/Dynamin_N;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:4:0:4:2:117:6.55:6.55:0.00:0.51:0.51:0.00:60:115.5:2:0:46:86:12:NM_014874.3(MFN2) c.475-258delA,NM_014874.3(MFN2) c.475-258delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 12057158 rs559199646 G A 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9984,A/0.001597;NP=11;PC=0.003;Gene=MFN2/NM_001127660.1/0;CC=c.475-196G>A;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.475-196G>A;VC=Intron;DM=MFN2/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G:14:14:0:0:4,10:86,211:6.88,0.00:6.88,0.00:0.00,0.00:0.77,0.00:0.77,0.00:0.00,0.00:60,60:40.5,56.4:0,0:0,0:27,54:124,94:11,26:NM_014874.3(MFN2) c.475-196G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12057479 . G . . NT END=12058826;NT GT ./. 1 12058606 rs55676620 AAAAAC A 18 sb,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=784;PC=0.001;Gene=MFN2/NM_001127660.1/0;CC=c.600-199_600-195delAAACA;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.600-199_600-195delAAACA;VC=Intron;DM=MFN2/Dynamin_N;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:5:5:159:18.28:16.40:1.89:1.00:1.00:1.00:60:2.4:0:0:52:99:38:NM_014874.3(MFN2) c.600-220_600-216delAAAAC,NM_014874.3(MFN2) c.600-220_600-216delAAAAC:0.62,0.62:NOT_FOUND,NOT_FOUND 1 12058936 . G . . NT END=12059044;NT GT ./. 1 12059153 . G . . NT END=12061457;NT GT ./. 1 12061612 . G . . NT END=12061825;NT GT ./. 1 12061629 . T C 103 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;Gene=MFN2/NM_001127660.1/0;CC=c.970+18T>C;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.970+18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:62:25:0:0:33,1,28:1057,12,905:103.17,0.03,0.00:42.60,-0.05,0.00:60.57,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.4,156.0,5.7:0,0,0:0,0,0:95,69,109:56,55,36:28,0,26:NM_014874.3(MFN2) c.970+18T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12061894 . G . . NT END=12062038;NT GT ./. 1 12062161 . G . . NT END=12064048;NT GT ./. 1 12062205 rs2236057 A G 252 nt VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.3421,G/0.6579;Gene=MFN2/NM_001127660.1/0;CC=c.1160+45A>G;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.1160+45A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:30:0:0:66:2207:252.12:68.36:183.76:1.00:1.00:1.00:60:36.1:0:0:97:50:27:NM_014874.3(MFN2) c.1160+45A>G,NM_014874.3(MFN2) c.1160+45A>G:0.64,0.64:0.650238,0.650238 1 12062361 rs2236058 C G 60 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4445,G/0.5555;Gene=MFN2/NM_001127660.1/0;CC=c.1160+201C>G;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.1160+201C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:526:60.20:0.00:60.20:1.00:0.00:1.00:60:39.1:0:0:96:54:35:NM_014874.3(MFN2) c.1160+201C>G,NM_014874.3(MFN2) c.1160+201C>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 12064176 . G . . NT END=12064565;NT GT ./. 1 12064671 . G . . NT END=12064881;NT GT ./. 1 12064892 rs138382758 G A 104 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=in-clinvar;PAF=G/0.998,A/0.001997;NP=17;PC=1.000;Gene=MFN2/NM_001127660.1/0;CC=c.1403G>A;ProtCh=p.R468H;VC=Missense;Gene=MFN2/NM_014874.3/1;CC=c.1403G>A;ProtCh=p.R468H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:63:0:0:34,43:1108,1408:104.12,0.00:61.50,0.00:42.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,5.9:0,0:0,0:45,39:100,103:27,19:NM_014874.3(MFN2) c.1403G>A (p.Arg468His),-:0.0027,-:0.001922,- 1 12064985 . G . . NT END=12065767;NT GT ./. 1 12065989 . G . . NT END=12066594;NT GT ./. 1 12066218 rs397705097 T A,TA 10 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4117,TA/0.5883;DB;DBA=NA;PAF=T/0.4117,TA/0.5883;NP=148 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:A,TA:4:2:3:0:1,3:33,85:3.18,9.55:0.00,6.70:3.18,2.85:0.00,0.85:0.00,0.95:0.00,0.95:60,60:129.0,24.0:1,0:0,0:103,43:48,107:0,37:NM_014874.3(MFN2) c.1716+230T>A,NM_014874.3(MFN2) c.1716+230_1716+231insA:NOT_FOUND,0.57:NOT_FOUND,NOT_FOUND 1 12066751 . G . . NT END=12067109;NT GT ./. 1 12067044 rs7550536 T G 263 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.4732,G/0.5268;Gene=MFN2/NM_001127660.1/0;CC=c.1873-66T>G;VC=Intron;Gene=MFN2/NM_014874.3/1;CC=c.1873-66T>G;VC=Intron;DM=MFN2/Fzo_mitofusin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:74:70:0:0:74:2281:263.18:221.48:41.70:1.00:1.00:1.00:60:44.2:0:0:49:102:31:NM_014874.3(MFN2) c.1873-66T>G,NM_014874.3(MFN2) c.1873-66T>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 12067307 . G . . NT END=12069648;NT GT ./. 1 12069784 . G . . NT END=12071552;NT GT ./. 1 12071623 . T . . NT END=12081783;NT GT ./. 1 12071680 rs1042842 A G 136 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.2676,G/0.7324;Gene=MFN2/NM_001127660.1/0;CC=c.*58A>G;VC=3UTR;Gene=MFN2/NM_014874.3/1;CC=c.*58A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:G:36:14:0:0:36:1185:135.66:29.99:105.66:1.00:1.00:1.00:60:36.0:0:0:101:47:24:NM_014874.3(MFN2) c.*58A>G,NM_014874.3(MFN2) c.*58A>G:0.7,0.7:0.709155,0.709155 1 12081898 . G . . NT END=12082151;NT GT ./. 1 12082500 . G . . NT END=12082889;NT GT ./. 1 12082926 rs2295283 A G 246 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.3307,G/0.6693;PC=0.361;Gene=MIIP/NM_021933.3/1;CC=c.499A>G;ProtCh=p.K167E;VC=Missense;DM=MIIP/MIIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:48:0:0:66:2150:246.35:125.38:120.97:1.00:1.00:1.00:60:38.2:0:0:65:78:39:NM_021933.3(MIIP) c.499A>G (p.Lys167Glu),NM_021933.3(MIIP) c.499A>G (p.Lys167Glu):0.66,0.66:0.738275,0.738275 1 12082975 . G . . NT END=12089089;NT GT ./. 1 12083183 rs6670626 T C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2925,C/0.7075;PC=0.002;Gene=MIIP/NM_021933.3/1;CC=c.547+209T>C;VC=Intron;DM=MIIP/MIIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:109:13.11:0.00:13.11:1.00:0.00:1.00:60:58.4:0:0:32:118:7:NM_021933.3(MIIP) c.547+209T>C,NM_021933.3(MIIP) c.547+209T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 12089199 . G . . NT END=12089279;NT GT ./. 1 12089339 . G . . NT END=12089821;NT GT ./. 1 12089952 . G . . NT END=12090084;NT GT ./. 1 12090182 . G . . NT END=12091322;NT GT ./. 1 12091024 rs61776548 G A 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6194,A/0.3806;Gene=MIIP/NM_021933.3/1;CC=c.943-299G>A;VC=Intron;DM=MIIP/MIIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:239:27.67:27.67:0.00:1.00:1.00:0.00:60:51.6:0:0:45:106:30:NM_021933.3(MIIP) c.943-299G>A,NM_021933.3(MIIP) c.943-299G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 1 12091210 rs946461 T C 208 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.2921,C/0.7079;Gene=MIIP/NM_021933.3/1;CC=c.943-113T>C;VC=Intron;DM=MIIP/MIIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:C,G:59:57:0:0:58,1:1811,5:208.26,0.04:192.92,0.04:15.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,19.0:0,0:0,0:44,100:106,51:22,0:NM_021933.3(MIIP) c.943-113T>C,NM_021933.3(MIIP) c.943-113T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 12091461 . G . . NT END=12091597;NT GT ./. 1 12091773 . A . . NT END=12091778;NT GT ./. 1 12091866 . G . . NT END=12123655;NT GT ./. 1 12123719 . G . . NT END=12144520;NT GT ./. 1 12144609 . G . . NT END=12157157;NT GT ./. 1 12157275 . G . . NT END=12164435;NT GT ./. 1 12164137 rs4845895 A G 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6118,G/0.3882;Gene=TNFRSF8/NM_001243.4/1;CC=c.269-299A>G;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.-65-299A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,G:4:3:0:0:2,2:46,67:0.00,6.46:0.00,2.78:0.00,3.68:0.00,0.51:0.00,0.89:0.00,0.67:60,60:51.5,83.5:0,0:0,0:6,69:129,77:1,3:-,NM_001243.3(TNFRSF8) c.269-299A>G:-,0.37:-,NOT_FOUND 1 12164391 rs11569850 G C 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.9399,A/.,C/0.0601;Gene=TNFRSF8/NM_001243.4/1;CC=c.269-45G>C;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.-65-45G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:48:0:0:29,28:906,870:87.30,0.00:61.24,0.00:26.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,7.1:0,0:0,0:54,40:78,109:33,24:NM_001243.3(TNFRSF8) c.269-45G>C,-:0.06,-:0.057819,- 1 12164589 . G . . NT END=12169622;NT GT ./. 1 12164675 rs11569852 G A 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.9405,A/0.0595;Gene=TNFRSF8/NM_001243.4/1;CC=c.421+87G>A;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.88+87G>A;VC=Intron;DM=TNFRSF8/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:41:4:0:0:16,1,24:461,13,757:42.01,0.12,0.00:1.35,-0.02,0.00:40.66,0.14,0.00:1.00,0.00,0.00:0.86,0.00,0.00:1.00,0.00,0.00:60,60,60:30.5,23.0,12.3:0,0,0:0,0,0:103,2,116:48,147,34:37,0,20:NM_001243.3(TNFRSF8) c.421+87G>A,-:0.06,-:NOT_FOUND,- 1 12169714 . G . . NT END=12170097;NT GT ./. 1 12169977 rs11569873 C G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.9411,G/0.05891;Gene=TNFRSF8/NM_001243.4/1;CC=c.513-121C>G;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.180-121C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:22:0:0:16,11:493,335:0.00,30.82:0.00,21.51:0.00,9.32:0.00,1.00:0.00,1.00:0.00,0.97:60,60:10.6,32.0:0,0:0,0:83,96:67,54:30,38:-,NM_001243.3(TNFRSF8) c.513-121C>G:-,0.06:-,NOT_FOUND 1 12170262 . G . . NT END=12171954;NT GT ./. 1 12170288 rs2297729 G A 134 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.9223,A/0.07768;Gene=TNFRSF8/NM_001243.4/1;CC=c.676+27G>A;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.343+27G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:79:25:0:0:44,35:1369,1153:134.25,0.00:25.55,0.00:108.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,7.0:0,0:0,0:105,100:45,51:22,28:NM_001243.3(TNFRSF8) c.676+27G>A,-:0.08,-:0.074965,- 1 12170425 rs3818804 G T 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TNFRSF8/NM_001243.4/1;CC=c.676+164G>T;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.343+164G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:G,T:12:0:0:0:5,7:171,211:0.00,20.87:0.00,0.00:0.00,20.87:0.00,0.99:0.00,0.00:0.00,0.99:60,60:18.6,52.1:0,0:0,0:85,92:66,59:9,41:-,NM_001243.3(TNFRSF8) c.676+164G>T:-,NOT_FOUND:-,NOT_FOUND 1 12170494 rs11121865 C G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=TNFRSF8/NM_001243.4/1;CC=c.676+233C>G;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.343+233C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,G:5:0:0:0:2,3:63,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,72.3:0,0:0,0:138,101:13,50:12,3:-,NM_001243.3(TNFRSF8) c.676+233C>G:-,0.08:-,NOT_FOUND 1 12172072 . G . . NT END=12175633;NT GT ./. 1 12175729 rs1763642 C T 363 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=3484;PC=1.000;Gene=TNFRSF8/NM_001243.4/1;CC=c.889C>T;ProtCh=p.R297C;VC=Missense;Gene=TNFRSF8/NM_001281430.2/0;CC=c.556C>T;ProtCh=p.R186C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:96:70:0:0:96:3170:362.61:191.06:171.55:1.00:1.00:1.00:60:49.3:0:0:66:76:35:NM_001243.3(TNFRSF8) c.889C>T (p.Arg297Cys),NM_001243.3(TNFRSF8) c.889C>T (p.Arg297Cys):1,1:NOT_FOUND,NOT_FOUND 1 12175787 . G . . NT END=12183340;NT GT ./. 1 12175818 rs598661 A G 108 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.6004,G/0.3996;PC=0.001;Gene=TNFRSF8/NM_001243.4/1;CC=c.946+32A>G;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.613+32A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:37:0:0:37,36:1223,1131:0.00,108.27:0.00,36.75:0.00,71.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.7,55.6:0,0:0,0:73,88:77,57:38,25:-,NM_001243.3(TNFRSF8) c.946+32A>G:-,0.37:-,0.310703 1 12183174 rs4846096 A C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3175,C/0.6825;Gene=TNFRSF8/NM_001243.4/1;CC=c.947-167A>C;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.614-167A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:17:17:0:0:8,9:258,294:0.00,28.59:0.00,28.59:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.1,37.6:0,0:0,0:29,47:122,103:18,32:-,NM_001243.3(TNFRSF8) c.947-167A>C:-,0.71:-,NOT_FOUND 1 12183435 . G . . NT END=12183771;NT GT ./. 1 12183885 . G . . NT END=12186007;NT GT ./. 1 12186110 . G . . NT END=12186239;NT GT ./. 1 12186294 . G . . NT END=12195644;NT GT ./. 1 12195671 . G . . NT END=12198285;NT GT ./. 1 12198179 rs671106 G A 106 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.3423,A/0.6577;Gene=TNFRSF8/NM_001243.4/1;CC=c.1336-107G>A;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.1003-110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:29:0:0:29:923:106.10:106.10:0.00:1.00:1.00:0.00:60:51.5:0:0:54:96:36:NM_001243.3(TNFRSF8) c.1336-107G>A,NM_001243.3(TNFRSF8) c.1336-107G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 12198203 rs373939275 GA G 7 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1;PC=0.009;Gene=TNFRSF8/NM_001243.4/1;CC=c.1336-73delA;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.1003-76delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:GA,G:36:34:0:3:33,3:1076,96:0.00,6.55:0.00,5.55:0.00,1.00:0.00,0.39:0.00,0.86:0.00,0.42:60,60:42.8,44.0:0,0:0,0:34,43:117,108:27,6:-,NM_001243.3(TNFRSF8) c.1336-82delA:-,NOT_FOUND:-,NOT_FOUND 1 12198297 rs476488 T C 193 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.7085,C/0.2915;Gene=TNFRSF8/NM_001243.4/1;CC=c.1347T>C;ProtCh=p.S449=;VC=Silent;Gene=TNFRSF8/NM_001281430.2/0;CC=c.1011T>C;ProtCh=p.S337=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:114:97:0:0:63,51:1975,1493:193.36,0.00:120.26,0.00:73.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,5.6:0,0:0,0:41,57:102,93:23,30:NM_001243.3(TNFRSF8) c.1347T>C (p.(=)),-:0.29,-:0.239251,- 1 12198494 . G . . NT END=12202343;NT GT ./. 1 12198635 rs6419481 T C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2772,C/0.7228;Gene=TNFRSF8/NM_001243.4/1;CC=c.1543+142T>C;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.1207+142T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,G,T:14:1:0:0:6,1,7:183,12,228:17.23,0.39,0.00:-0.12,-0.02,0.00:17.35,0.40,0.00:0.96,0.00,0.00:0.62,0.00,0.00:0.96,0.00,0.00:60,60,60:35.3,12.0,1.6:0,0,0:0,0,0:82,88,110:69,62,41:34,0,13:NM_001243.3(TNFRSF8) c.1543+142T>C,-:0.72,-:NOT_FOUND,- 1 12202095 rs755398 G C 58 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5278,C/0.4722;Gene=TNFRSF8/NM_001243.4/1;CC=c.1544-249G>C;VC=Intron;Gene=TNFRSF8/NM_001281430.2/0;CC=c.1208-249G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:498:57.85:57.85:0.00:1.00:1.00:0.00:60:43.8:0:0:69:82:33:NM_001243.3(TNFRSF8) c.1544-249G>C,NM_001243.3(TNFRSF8) c.1544-249G>C:0.48,0.48:NOT_FOUND,NOT_FOUND 1 12202589 . G . . NT END=12227148;NT GT ./. 1 12227227 . G . . NT END=12248852;NT GT ./. 1 12248942 rs945439 A G 84 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.8007,G/0.1993;PC=0.969;Gene=TNFRSF1B/NM_001066.2/1;CC=c.168A>G;ProtCh=p.K56=;VC=Silent;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:65:45:0:0:37,28:1144,899:0.00,83.93:0.00,34.18:0.00,49.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,71.9:0,0:0,0:103,91:43,45:24,29:-,NM_001066.2(TNFRSF1B) c.168A>G (p.(=)):-,0.2:-,0.235122 1 12248953 . G . . NT END=12251013;NT GT ./. 1 12248965 rs945438 A G 76 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.8013,C/.,G/0.1987;Gene=TNFRSF1B/NM_001066.2/1;CC=c.178+13A>G;VC=Intron;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:37:0:0:30,24:967,803:0.00,75.60:0.00,25.43:0.00,50.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,89.5:0,0:0,0:107,102:38,44:26,26:-,NM_001066.2(TNFRSF1B) c.178+13A>G:-,0.2:-,0.23239 1 12249020 rs1815530 C T 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8105,T/0.1895;PC=0.005;Gene=TNFRSF1B/NM_001066.2/1;CC=c.178+68C>T;VC=Intron;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:7:0:0:15,10:471,331:0.00,30.56:0.00,5.75:0.00,24.81:0.00,1.00:0.00,0.96:0.00,1.00:60,60:34.2,114.1:0,0:0,0:115,120:36,30:22,19:-,NM_001066.2(TNFRSF1B) c.178+68C>T:-,0.19:-,NOT_FOUND 1 12249031 rs1201157 A G 79 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.3886,G/0.6114;Gene=TNFRSF1B/NM_001066.2/1;CC=c.178+79A>G;VC=Intron;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:6:0:0:22:684:78.86:11.09:67.77:1.00:1.00:1.00:60:66.8:0:0:110:41:24:NM_001066.2(TNFRSF1B) c.178+79A>G,NM_001066.2(TNFRSF1B) c.178+79A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 12251143 . G . . NT END=12251830;NT GT ./. 1 12251191 rs472093 T A 122 nt VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.8638,A/0.1362;Gene=TNFRSF1B/NM_001066.2/1;CC=c.307+49T>A;VC=Intron;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:100:50:0:0:42,1,57:1308,10,1795:121.52,-0.15,0.00:31.53,-0.09,0.00:89.99,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.1,33.0,6.3:0,0,0:0,0,0:102,42,96:34,105,54:24,0,27:NM_001066.2(TNFRSF1B) c.307+49T>A,-:0.14,-:0.154775,- 1 12251318 rs666078 G A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.8578,A/0.1422;Gene=TNFRSF1B/NM_001066.2/1;CC=c.307+176G>A;VC=Intron;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:29:1:0:0:9,19,1:241,617,11:20.75,0.00,0.05:-0.08,0.00,-0.01:20.83,0.00,0.05:0.99,0.00,0.00:0.54,0.00,0.00:0.99,0.00,0.00:60,60,60:51.7,13.9,100.0:0,0,0:0,0,0:87,102,131:63,48,20:33,30,0:NM_001066.2(TNFRSF1B) c.307+176G>A,-:0.15,-:NOT_FOUND,- 1 12251765 rs498906 T G 126 nt VT=SNV;PN=G;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.8061,G/0.1939;PC=0.112;Gene=TNFRSF1B/NM_001066.2/1;CC=c.308-66T>G;VC=Intron;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:94:90:0:0:41,53:1347,1616:126.29,0.00:101.43,0.00:24.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:86.4,11.1:0,1:0,0:35,46:105,99:24,26:NR_039775.1(MIR4632) n.4T>G,-:0.19,-:NOT_FOUND,- 1 12251808 rs653667 T G 187 nt VT=SNV;PN=T;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=T/0.6963,A/.,C/.,G/0.3037;PC=0.006;Gene=TNFRSF1B/NM_001066.2/1;CC=c.308-23T>G;VC=Intron;Gene=MIR4632/NR_039775.2/0;VC=NonCoding;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:137:133:0:0:58,79:1995,2467:186.66,0.00:140.09,0.00:46.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.9,8.1:0,0:0,0:51,54:98,91:26,31:NR_039775.1(MIR4632) n.47T>G,-:0.31,-:0.326849,- 1 12251859 rs150483691 G C 230 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=170;DB;DBA=NA;PAF=NA;NP=2;Gene=TNFRSF1B/NM_001066.2/1;CC=c.336G>C;ProtCh=p.R112=;VC=Silent;DM=TNFRSF1B/TNFR_c6;DM=TNFRSF1B/TNFR_c6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:170:138:0:0:74,96:2451,3047:229.79,0.00:135.15,0.00:94.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.7,5.5:0,0:0,0:74,72:74,78:31,36:NM_001066.2(TNFRSF1B) c.336G>C (p.(=)),-:0.0005,-:0.000077,- 1 12251981 . G . . NT END=12252487;NT GT ./. 1 12252333 . CTGTG C 18 rn VT=DEL;SST=Single;DP=22;NP=51;Gene=TNFRSF1B/NM_001066.2/1;CC=c.458-127_458-124delGTGT;VC=Intron;DM=TNFRSF1B/TNFR_c6;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:CTGTG,I,C:21:17:1:7:14,1,6:451,34,229:0.00,2.25,17.54:0.00,2.36,16.64:0.00,-0.11,0.90:0.00,0.00,0.93:0.00,0.00,0.99:0.00,0.00,0.86:60,60,60:4.1,0.0,11.5:0,0,1:0,0,0:97,58,41:53,91,107:35,0,7:-,NM_001066.2(TNFRSF1B) c.458-154_458-151delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 12252582 . G . . NT END=12252919;NT GT ./. 1 12252892 rs1768642 C T 97 nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.8091,T/0.1909;Gene=TNFRSF1B/NM_001066.2/1;CC=c.552-28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:67:0:0:44,33:1401,1045:0.00,97.39:0.00,69.88:0.00,27.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,62.0:0,0:0,0:57,46:94,97:31,32:-,NM_001066.2(TNFRSF1B) c.552-28C>T:-,0.19:-,0.217231 1 12252955 rs1061622 T G 179 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.8053,G/0.1947;Gene=TNFRSF1B/NM_001066.2/1;CC=c.587T>G;ProtCh=p.M196R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:124:96:0:0:59,65:1886,2095:179.45,0.00:104.54,0.00:74.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.2,8.5:0,0:0,0:58,48:90,94:33,34:NM_001066.2(TNFRSF1B) c.587T>G (p.Met196Arg),-:0.2,-:0.230509,- 1 12253156 . G . . NT END=12254011;NT GT ./. 1 12253351 rs636964 T C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8393,C/0.1607;Gene=TNFRSF1B/NM_001066.2/1;CC=c.787+196T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,T:8:0:0:0:6,2:177,64:18.61,0.00:0.00,0.00:18.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:29.5,36.5:0,0:0,0:108,74:42,73:32,43:NM_001066.2(TNFRSF1B) c.787+196T>C,-:0.16,-:NOT_FOUND,- 1 12254090 . G . . NT END=12254640;NT GT ./. 1 12254201 rs2275416 G A 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.861,A/0.139;Gene=TNFRSF1B/NM_001066.2/1;CC=c.865+112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:2:0:0:10,12:315,364:29.67,0.00:3.17,0.00:26.50,0.00:1.00,0.00:0.75,0.00:1.00,0.00:60,60:31.5,7.9:0,0:0,0:89,111:60,39:27,15:NM_001066.2(TNFRSF1B) c.865+112G>A,-:0.15,-:NOT_FOUND,- 1 12254676 . G . . NT END=12262023;NT GT ./. 1 12261972 rs5746051 A G 128 nt VT=SNV;PN=A;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.8686,G/0.1314;Gene=TNFRSF1B/NM_001066.2/1;CC=c.901-52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:86:80:0:0:46,40:1502,1344:0.00,127.68:0.00,93.07:0.00,34.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,35.4:0,0:0,0:40,55:104,87:24,35:-,NM_001066.2(TNFRSF1B) c.901-52A>G:-,0.13:-,0.128118 1 12262229 . G . . NT END=12266796;NT GT ./. 1 12262298 rs5746053 G A 113 nt VT=SNV;PN=A;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.8333,A/0.1667;PC=0.005;Gene=TNFRSF1B/NM_001066.2/1;CC=c.1105+70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:26:0:0:38,40:1188,1390:113.45,0.00:23.97,0.00:89.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,8.5:0,0:0,0:114,99:32,51:27,27:NM_001066.2(TNFRSF1B) c.1105+70G>A,-:0.16,-:NOT_FOUND,- 1 12262426 rs5746054 C T 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8632,T/0.1368;Gene=TNFRSF1B/NM_001066.2/1;CC=c.1105+198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:11,9:377,255:0.00,23.78:0.00,0.00:0.00,23.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.6,44.8:0,0:0,0:98,121:52,30:46,13:-,NM_001066.2(TNFRSF1B) c.1105+198C>T:-,0.15:-,NOT_FOUND 1 12266591 rs5746061 A G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8606,G/0.1394;PC=0.001;Gene=TNFRSF1B/NM_001066.2/1;CC=c.1106-206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:18:17:0:0:6,12:181,387:0.00,39.45:0.00,35.75:0.00,3.70:0.00,1.00:0.00,1.00:0.00,0.78:60,60:2.8,65.4:0,0:0,0:50,52:100,98:36,22:-,NM_001066.2(TNFRSF1B) c.1106-206A>G:-,0.13:-,NOT_FOUND 1 12266612 rs5746062 A G 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.8221,G/0.1779;PC=0.006;Gene=TNFRSF1B/NM_001066.2/1;CC=c.1106-185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:23:0:0:8,16:264,496:0.00,50.58:0.00,46.88:0.00,3.70:0.00,1.00:0.00,1.00:0.00,0.78:60,60:2.1,60.8:0,0:0,0:44,44:106,105:37,31:-,NM_001066.2(TNFRSF1B) c.1106-185A>G:-,0.18:-,NOT_FOUND 1 12267078 . C . . NT END=12294323;NT GT ./. 1 12267265 rs1061624 A G 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5435,G/0.4565;Gene=TNFRSF1B/NM_001066.2/1;CC=c.*188A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:273:31.56:0.00:31.56:1.00:0.00:1.00:60:65.1:0:0:92:58:40:NM_001066.2(TNFRSF1B) c.*188A>G,NM_001066.2(TNFRSF1B) c.*188A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 12267292 rs3397 C T 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5909,T/0.4091;Gene=TNFRSF1B/NM_001066.2/1;CC=c.*215C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:256:29.41:0.00:29.41:1.00:0.00:1.00:60:79.5:0:0:77:73:34:NM_001066.2(TNFRSF1B) c.*215C>T,NM_001066.2(TNFRSF1B) c.*215C>T:0.45,0.45:NOT_FOUND,NOT_FOUND 1 12294421 . G . . NT END=12302569;NT GT ./. 1 12302648 . G . . NT END=12304302;NT GT ./. 1 12304494 . G . . NT END=12304593;NT GT ./. 1 12304675 . G . . NT END=12309279;NT GT ./. 1 12309397 . G . . NT END=12313778;NT GT ./. 1 12313884 . G . . NT END=12316389;NT GT ./. 1 12316561 . G . . NT END=12317043;NT GT ./. 1 12317145 . G . . NT END=12317991;NT GT ./. 1 12318161 . G . . NT END=12320749;NT GT ./. 1 12320852 . G . . NT END=12321004;NT GT ./. 1 12321207 . G . . NT END=12321957;NT GT ./. 1 12322138 . G . . NT END=12326937;NT GT ./. 1 12327069 . G . . NT END=12327901;NT GT ./. 1 12327978 . G . . NT END=12328762;NT GT ./. 1 12328934 . G . . NT END=12331050;NT GT ./. 1 12330939 . A AT 7 idl,rn VT=INS;SST=Single;DP=35;NP=1;PC=0.021;Gene=VPS13D/NM_015378.3/1;CC=c.1973-99_1973-98insT;VC=Intron;Gene=VPS13D/NM_018156.3/0;CC=c.1973-99_1973-98insT;VC=Intron;DM=VPS13D/VPS13_mid_rpt;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,AT,D:34:33:3:4:28,3,3:844,99,108:0.00,7.05,4.56:0.00,7.14,0.53:0.00,-0.10,4.03:0.00,0.40,0.00:0.00,0.86,0.00:0.00,0.44,0.00:60,60,60:10.0,6.7,25.0:0,0,1:0,0,0:48,101,47:102,50,103:26,15,17:-,NM_015378.2(VPS13D) c.1973-112_1973-111insT:-,NOT_FOUND:-,NOT_FOUND 1 12331182 . G . . NT END=12333059;NT GT ./. 1 12333193 . G . . NT END=12335881;NT GT ./. 1 12338096 . G . . NT END=12339555;NT GT ./. 1 12339619 rs4845898 A T 103 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.8389,T/0.1611;PC=1.000;Gene=VPS13D/NM_015378.3/1;CC=c.4514A>T;ProtCh=p.E1505V;VC=Missense;Gene=VPS13D/NM_018156.3/0;CC=c.4514A>T;ProtCh=p.E1505V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:63:52:0:0:28,35:891,1048:0.00,102.63:0.00,59.84:0.00,42.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,34.3:0,0:0,0:90,73:59,76:27,32:-,NM_015378.2(VPS13D) c.4514A>T (p.Glu1505Val):-,0.17:-,0.166077 1 12339708 . G . . NT END=12342761;NT GT ./. 1 12343794 . G . . NT END=12348279;NT GT ./. 1 12348371 . G . . NT END=12351054;NT GT ./. 1 12351182 . G . . NT END=12353580;NT GT ./. 1 12353762 . G . . NT END=12359258;NT GT ./. 1 12359442 . G . . NT END=12364562;NT GT ./. 1 12364786 . G . . NT END=12368487;NT GT ./. 1 12368699 . G . . NT END=12371510;NT GT ./. 1 12368705 . GT G 22 idl,rn VT=DEL;SST=Single;DP=51;NP=18;PC=0.993;Gene=VPS13D/NM_015378.3/1;CC=c.6650+22delT;VC=Intron;Gene=VPS13D/NM_018156.3/0;CC=c.6650+22delT;VC=Intron;DM=VPS13D/SHR-BD;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:GT,I,G:50:19:5:9:37,4,9:1110,150,280:0.00,7.98,22.41:0.00,-0.20,3.82:0.00,8.18,18.58:0.00,0.00,0.98:0.00,0.00,0.94:0.00,0.00,1.00:60,60,60:13.1,6.8,11.4:0,1,0:0,0,0:121,113,67:28,38,84:25,4,32:-,NM_015378.2(VPS13D) c.6650+8delT:-,NOT_FOUND:-,NOT_FOUND 1 12371683 . G . . NT END=12371869;NT GT ./. 1 12371983 . G . . NT END=12374171;NT GT ./. 1 12374385 . G . . NT END=12378128;NT GT ./. 1 12378395 . G . . NT END=12379553;NT GT ./. 1 12379688 . G . . NT END=12381865;NT GT ./. 1 12382022 . G . . NT END=12382592;NT GT ./. 1 12382804 . G . . NT END=12383762;NT GT ./. 1 12383838 . G . . NT END=12387704;NT GT ./. 1 12387912 . G . . NT END=12389885;NT GT ./. 1 12387978 rs368337255 CT C 10 idl,rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=32;Gene=VPS13D/NM_015378.3/1;CC=c.8197+78delT;VC=Intron;Gene=VPS13D/NM_018156.3/0;CC=c.8197+78delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:CT,T,I,C:55:4:4:6:45,1,4,5:1396,12,118,178:0.00,-0.10,7.68,10.23:0.00,-0.02,-0.08,-0.10:0.00,-0.08,7.76,10.33:0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.32:0.00,0.00,0.00,0.97:60,60,60,70:11.8,35.0,0.0,16.2:0,0,0,1:0,0,0,0:97,21,110,64:54,130,40,85:39,0,10,19:-,NM_015378.2(VPS13D) c.8197+68delT:-,NOT_FOUND:-,NOT_FOUND 1 12389976 . G . . NT END=12393282;NT GT ./. 1 12393424 . G . . NT END=12395761;NT GT ./. 1 12395885 . G . . NT END=12398287;NT GT ./. 1 12398363 . G . . NT END=12401836;NT GT ./. 1 12398426 . A AT 11 rn VT=INS;SST=Single;DP=21;NP=2;Gene=VPS13D/NM_015378.3/1;CC=c.8626+74dupT;VC=Intron;Gene=VPS13D/NM_018156.3/0;CC=c.8551+2552dupT;VC=Intron;DM=VPS13D/VPS13_C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,T,AT:21:3:4:0:16,1,4:479,33,131:0.00,2.12,10.66:0.00,-0.03,-0.14:0.00,2.15,10.80:0.00,0.00,0.70:0.00,0.00,0.51:0.00,0.00,0.70:60,60,70:9.5,43.0,5.8:0,0,0:0,0,0:104,29,111:46,121,39:37,0,24:-,NM_015378.2(VPS13D) c.8626+64_8626+65insT:-,NOT_FOUND:-,NOT_FOUND 1 12401868 rs28551666 A C 287 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.2033,C/0.7967;Gene=VPS13D/NM_015378.3/1;CC=c.8658A>C;ProtCh=p.P2886=;VC=Silent;Gene=VPS13D/NM_018156.3/0;CC=c.8583A>C;ProtCh=p.P2861=;VC=Silent;DM=VPS13D/VPS13_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:58:0:0:75:2516:287.32:164.11:123.22:1.00:1.00:1.00:60:40.1:0:0:53:88:27:NM_015378.2(VPS13D) c.=,NM_015378.2(VPS13D) c.=:0.8,0.8:0.788559,0.788559 1 12401943 . G . . NT END=12402955;NT GT ./. 1 12403109 . G . . NT END=12405430;NT GT ./. 1 12405567 . G . . NT END=12406661;NT GT ./. 1 12406710 . G . . NT END=12408879;NT GT ./. 1 12409031 . G . . NT END=12409220;NT GT ./. 1 12409432 . G . . NT END=12414030;NT GT ./. 1 12414279 . G . . NT END=12415955;NT GT ./. 1 12416148 . G . . NT END=12416454;NT GT ./. 1 12416582 . G . . NT END=12418514;NT GT ./. 1 12418658 . G . . NT END=12422775;NT GT ./. 1 12418700 rs10864552 T C 289 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.03594,T/0.9641;Gene=VPS13D/NM_015378.3/1;CC=c.10141+43T>C;VC=Intron;Gene=VPS13D/NM_018156.3/0;CC=c.10066+43T>C;VC=Intron;DM=VPS13D/SHR-BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:86:36:0:0:1,85:13,2494:0.22,288.96:0.00,92.08:0.22,196.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:116.0,37.4:0,0:0,0:20,106:131,43:0,28:NM_015378.2(VPS13D) c.10141+43T>C,NM_015378.2(VPS13D) c.10141+43T>C:0.96,0.96:0.92911,0.92911 1 12422907 . G . . NT END=12423127;NT GT ./. 1 12423304 . G . . NT END=12428522;NT GT ./. 1 12428647 . G . . NT END=12429521;NT GT ./. 1 12429758 . G . . NT END=12433804;NT GT ./. 1 12433914 . G . . NT END=12438481;NT GT ./. 1 12438646 . G . . NT END=12439541;NT GT ./. 1 12439651 . G . . NT END=12443034;NT GT ./. 1 12443215 . G . . NT END=12445318;NT GT ./. 1 12445433 . G . . NT END=12446243;NT GT ./. 1 12446394 . G . . NT END=12460237;NT GT ./. 1 12460002 rs6684591 G C 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7214,C/0.2786;PC=0.004;Gene=VPS13D/NM_015378.3/1;CC=c.11635-236G>C;VC=Intron;Gene=VPS13D/NM_018156.3/0;CC=c.11560-236G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:459:52.58:52.58:0.00:1.00:1.00:0.00:60:38.4:0:0:34:115:21:NM_015378.2(VPS13D) c.11635-236G>C,NM_015378.2(VPS13D) c.11635-236G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 1 12460388 . G . . NT END=12461660;NT GT ./. 1 12461758 . G . . NT END=12463877;NT GT ./. 1 12464027 . G . . NT END=12475139;NT GT ./. 1 12475275 . G . . NT END=12476712;NT GT ./. 1 12476881 . G . . NT END=12516053;NT GT ./. 1 12516187 . G . . NT END=12520255;NT GT ./. 1 12520452 . G . . NT END=12557553;NT GT ./. 1 12557686 . G . . NT END=12559494;NT GT ./. 1 12560302 . G . . NT END=12566906;NT GT ./. 1 12567148 . G . . NT END=12568946;NT GT ./. 1 12567232 rs7554257 A G 277 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.01038,A/0.9896;Gene=VPS13D/NM_015378.3/1;CC=c.13035+85A>G;VC=Intron;Gene=VPS13D/NM_018156.3/0;CC=c.12960+85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:73:21:0:0:72,1:2436,10:277.47,0.13:50.47,0.00:227.00,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,38.0:0,0:0,0:122,74:26,77:18,0:NM_015378.2(VPS13D) c.13035+85A>G,NM_015378.2(VPS13D) c.13035+85A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 12569079 . A . . NT END=12628368;NT GT ./. 1 12570579 rs397731722 C CTG 8 sb,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=405;Gene=VPS13D/NM_015378.3/1;CC=c.*1529_*1530insTG;VC=3UTR;Gene=VPS13D/NM_018156.3/0;CC=c.*1529_*1530insTG;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CTG,D:5:4:3:1:1,3,1:36,74,33:0.00,7.76,2.98:0.00,6.23,-0.05:0.00,1.53,3.03:0.00,0.78,0.00:0.00,0.97,0.00:0.00,0.94,0.00:60,60,60:0.0,23.3,9.0:0,0,0:0,0,0:129,56,72:22,89,79:0,5,0:-,NM_015378.2(VPS13D) c.*1528_*1529dupTG:-,NOT_FOUND:-,NOT_FOUND 1 12594933 rs77799451 T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7907,C/0.2093;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:126:14.51:5.42:9.09:1.00:1.00:1.00:60:39.8:0:0:75:68:17:chr1 g.12594932T>C (intergenic),chr1 g.12594932T>C (intergenic):0.22,0.22:NOT_FOUND,NOT_FOUND 1 12628454 . C . . NT END=12632755;NT GT ./. 1 12628637 rs4240900 G A 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4946,C/.,G/0.5054;Gene=DHRS3/NM_004753.6/1;CC=c.825-184C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,G:7:1:0:0:6,1:200,10:21.70,0.00:3.81,0.00:17.89,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:35.8,62.0:0,0:0,0:121,113:29,38:10,0:NM_004753.4(DHRS3) c.825-184C>T,NM_004753.4(DHRS3) c.825-184C>T:0.48,0.48:NOT_FOUND,NOT_FOUND 1 12632882 . C . . NT END=12638745;NT GT ./. 1 12638964 rs2275875 T C 309 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.1953,T/0.8047;Gene=DHRS3/NM_004753.6/1;CC=c.480A>G;ProtCh=p.P160=;VC=Silent;DM=DHRS3/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:85:34:0:0:85:2686:308.74:92.02:216.72:1.00:1.00:1.00:60:52.6:0:0:93:48:33:NM_004753.4(DHRS3) c.480A>G (p.(=)),NM_004753.4(DHRS3) c.480A>G (p.(=)):0.78,0.78:0.846609,0.846609 1 12638985 . C . . NT END=12639320;NT GT ./. 1 12639018 rs2275874 C T 196 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.6086,C/0.3914;Gene=DHRS3/NM_004753.6/1;CC=c.460-34G>A;VC=Intron;Gene=MIR6730/NR_106788.2/0;VC=NonCoding;DM=DHRS3/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:C,T:54:21:0:0:1,53:32,1729:0.00,195.96:0.00,54.77:0.00,141.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,66.5:0,0:0,0:100,113:51,37:0,20:NM_004753.4(DHRS3) c.460-34G>A,NM_004753.4(DHRS3) c.460-34G>A:0.38,0.38:0.418192,0.418192 1 12639168 rs3128461 A G 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.2242,A/0.7758;PC=0.001;Gene=DHRS3/NM_004753.6/1;CC=c.459+153T>C;VC=Intron;DM=DHRS3/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A,G,T:34:29:0:0:1,32,1:32,1005,8:0.00,113.59,0.14:0.00,94.79,0.14:0.00,18.81,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,40.9,124.0:0,0,0:0,0,0:73,45,27:77,106,101:0,40,0:NM_004753.4(DHRS3) c.459+153T>C,NM_004753.4(DHRS3) c.459+153T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 12639441 . C . . NT END=12640550;NT GT ./. 1 12639596 rs2358737 C T 90 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.5236,C/0.4764;Gene=DHRS3/NM_004753.6/1;CC=c.340-156G>A;VC=Intron;DM=DHRS3/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:3:0:0:24:788:90.22:9.74:80.48:1.00:1.00:1.00:60:40.5:0:0:80:70:31:NM_004753.4(DHRS3) c.340-156G>A,NM_004753.4(DHRS3) c.340-156G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 12640695 . C . . NT END=12660372;NT GT ./. 1 12660396 . G . . NT END=12676563;NT GT ./. 1 12660420 rs55728759 T C 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.6873,C/0.3127;Gene=DHRS3/NM_004753.6/1;CC=c.195+16739A>G;VC=Intron;DM=DHRS3/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:79:60:0:0:35,1,43:1061,5,1405:99.42,-0.21,0.00:55.02,-0.09,0.00:44.40,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.2,147.0,6.6:0,0,0:0,0,0:89,46,96:53,105,48:31,0,27:NM_004753.4(DHRS3) c.195+16739A>G,-:0.33,-:NOT_FOUND,- 1 12660599 rs12711523 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3009,C/0.6991;Gene=DHRS3/NM_004753.6/1;CC=c.195+16560G>A;VC=Intron;DM=DHRS3/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,T:12:0:0:0:8,4:253,115:0.00,10.08:0.00,0.00:0.00,10.08:0.00,0.80:0.00,0.00:0.00,0.80:60,60:3.8,34.8:0,0:0,0:92,100:58,51:28,23:-,NM_004753.4(DHRS3) c.195+16560G>A:-,0.68:-,NOT_FOUND 1 12676784 . C . . NT END=12677158;NT GT ./. 1 12676838 rs70987261 AG A 100 rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.744;Gene=DHRS3/NM_004753.6/1;CC=c.195+320delC;VC=Intron;DM=DHRS3/adh_short;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,G,A:49:21:0:36:14,1,34:367,11,962:0.00,0.10,99.86:0.00,-0.02,52.63:0.00,0.12,47.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:22.1,52.0,67.8:1,0,0:0,0,0:146,47,107:4,76,37:2,0,16:-,NM_004753.4(DHRS3) c.195+320delC:-,0.86:-,NOT_FOUND 1 12677354 . C . . NT END=12704565;NT GT ./. 1 12677525 rs58614555 G A 15 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=DHRS3/NM_004753.6/1;CC=c.-172C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,G,D:12:0:0:6:5,6,1:155,169,62:14.55,0.00,2.26:0.00,0.00,0.00:14.55,0.00,2.26:0.91,0.00,0.00:0.00,0.00,0.00:0.91,0.00,0.00:60,60,60:125.6,30.8,113.0:3,0,1:0,0,0:91,150,117:60,1,33:21,0,3:NM_004753.4(DHRS3) c.-172C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12704734 . G . . NT END=12711141;NT GT ./. 1 12711359 . G . . NT END=12721801;NT GT ./. 1 12721866 . G . . NT END=12725971;NT GT ./. 1 12726747 . T . . NT END=12776343;NT GT ./. 1 12776134 rs3010874 C A 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2915,C/0.7085;Gene=AADACL3/NM_001103170.2/1;CC=c.-46C>A;VC=5UTR;Gene=AADACL3/NR_111984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:296:33.89:33.89:0.00:1.00:1.00:0.00:60:64.2:0:0:47:103:7:NM_001103170.1(AADACL3) c.-217C>A,NM_001103170.1(AADACL3) c.-217C>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 12776218 rs3000860 A C 113 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.1436,A/0.8564;Gene=AADACL3/NM_001103170.2/1;CC=c.39A>C;ProtCh=p.*13Cext*395;VC=Readthrough;Gene=AADACL3/NR_111984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:29:0:0:29:987:112.53:102.89:9.64:1.00:1.00:1.00:60:52.2:0:0:57:91:24:NM_001103170.1(AADACL3) c.-133A>C,NM_001103170.1(AADACL3) c.-133A>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 12776344 rs3000859 A T 267 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.3435,A/0.6565;Gene=AADACL3/NM_001103170.2/1;CC=c.165A>T;ProtCh=p.T55=;VC=Silent;Gene=AADACL3/NR_111984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:71:50:0:0:71:2328:266.58:134.67:131.92:1.00:1.00:1.00:60:42.2:0:0:91:55:23:NM_001103170.1(AADACL3) c.-7A>T,NM_001103170.1(AADACL3) c.-7A>T:0.68,0.68:0.726267,0.726267 1 12776348 . G . . NT END=12779476;NT GT ./. 1 12779560 rs3010876 T C 314 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.1506,T/0.8494;Gene=AADACL3/NM_001103170.2/1;CC=c.252T>C;ProtCh=p.D84=;VC=Silent;Gene=AADACL3/NR_111984.1/0;VC=NonCoding;DM=AADACL3/Abhydrolase_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:85:68:0:0:85:2734:313.77:193.12:120.65:1.00:1.00:1.00:60:57.4:0:0:71:79:37:NM_001103170.1(AADACL3) c.81T>C (p.(=)),NM_001103170.1(AADACL3) c.81T>C (p.(=)):0.85,0.85:0.856757,0.856757 1 12779618 rs3010877 T C 289 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.152,T/0.848;PC=0.996;Gene=AADACL3/NM_001103170.2/1;CC=c.310T>C;ProtCh=p.S104P;VC=Missense;Gene=AADACL3/NR_111984.1/0;VC=NonCoding;DM=AADACL3/Abhydrolase_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:79:58:0:0:78,1:2539,13:289.01,0.00:148.10,0.00:140.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.6,109.0:0,0:0,0:78,3:66,148:26,0:NM_001103170.1(AADACL3) c.139T>C (p.Ser47Pro),NM_001103170.1(AADACL3) c.139T>C (p.Ser47Pro):0.85,0.85:0.857479,0.857479 1 12779694 . G . . NT END=12780884;NT GT ./. 1 12780949 . G . . NT END=12785188;NT GT ./. 1 12781142 rs3010881 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2893,T/0.7107;PC=0.024;Gene=AADACL3/NM_001103170.2/1;CC=c.449+194T>C;VC=Intron;Gene=AADACL3/NR_111984.1/0;VC=NonCoding;DM=AADACL3/Abhydrolase_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:1:0:0:7:199:23.23:3.18:20.06:1.00:1.00:1.00:60:32.3:0:0:120:4:27:NM_001103170.1(AADACL3) c.278+194T>C,NM_001103170.1(AADACL3) c.278+194T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 12785093 rs4361998 T G 103 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.1953,T/0.8047;PC=0.001;Gene=AADACL3/NM_001103170.2/1;CC=c.450-96T>G;VC=Intron;Gene=AADACL3/NR_111984.1/0;VC=NonCoding;DM=AADACL3/Abhydrolase_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G,T:30:29:0:0:29,1:907,11:102.87,0.00:93.70,0.00:9.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,41.0:0,0:0,0:33,129:118,22:22,0:NM_001103170.1(AADACL3) c.279-96T>G,NM_001103170.1(AADACL3) c.279-96T>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 12785494 rs7513079 G T 468 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=T/0.3177,G/0.6823;PC=0.092;Gene=AADACL3/NM_001103170.2/1;CC=c.755G>T;ProtCh=p.C252F;VC=Missense;Gene=AADACL3/NR_111984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:128:87:0:0:1,127:13,4091:0.00,467.52:0.00,261.37:0.00,206.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:62.0,39.4:0,2:0,0:34,66:117,79:0,29:NM_001103170.1(AADACL3) c.584G>T (p.Cys195Phe),NM_001103170.1(AADACL3) c.584G>T (p.Cys195Phe):0.7,0.7:0.667115,0.667115 1 12785964 . C . . NT END=12806378;NT GT ./. 1 12786070 rs3000930 A G 79 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.2364,A/0.7636;Gene=AADACL3/NM_001103170.2/1;CC=c.*107A>G;VC=3UTR;Gene=AADACL3/NR_111984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:2:0:0:24:678:79.09:5.27:73.82:1.00:1.00:1.00:60:47.7:0:0:86:64:41:NM_001103170.1(AADACL3) c.*107A>G,NM_001103170.1(AADACL3) c.*107A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 12786273 rs3010885 T C 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2949,T/0.7051;Gene=AADACL3/NM_001103170.2/1;CC=c.*310T>C;VC=3UTR;Gene=AADACL3/NR_111984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:148:17.18:0.00:17.18:1.00:0.00:1.00:60:66.4:0:0:91:59:13:NM_001103170.1(AADACL3) c.*310T>C,NM_001103170.1(AADACL3) c.*310T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 12806490 . G . . NT END=12815649;NT GT ./. 1 12815764 . G . . NT END=12819242;NT GT ./. 1 12819063 rs3795746 A T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3778,A/0.6222;PC=0.088;Gene=C1orf158/NM_152290.3/1;CC=c.226-180A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:12:0:0:12:312:36.76:36.76:0.00:1.00:1.00:0.00:60:42.7:0:0:72:79:29:NM_152290.2(C1orf158) c.226-180A>T,NM_152290.2(C1orf158) c.226-180A>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 12819421 . G . . NT END=12820702;NT GT ./. 1 12820434 rs10864583 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2624,G/0.7376;Gene=C1orf158/NM_152290.3/1;CC=c.404-269G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:123:14.20:14.20:0.00:1.00:1.00:0.00:60:128.8:0:0:51:99:15:NM_152290.2(C1orf158) c.404-269G>A,NM_152290.2(C1orf158) c.404-269G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 1 12820491 rs3010919 T G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1765,T/0.8235;Gene=C1orf158/NM_152290.3/1;CC=c.404-212T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:197:22.99:22.99:0.00:1.00:1.00:0.00:60:67.0:0:0:24:127:24:NM_152290.2(C1orf158) c.404-212T>G,NM_152290.2(C1orf158) c.404-212T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 12820870 rs1132185 T C 253 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.1765,T/0.8235;Gene=C1orf158/NM_152290.3/1;CC=c.571T>C;ProtCh=p.F191L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:A,C:67:36:0:0:1,66:11,2217:0.18,252.72:0.00,99.03:0.18,153.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:85.0,42.0:0,0:0,0:73,104:78,43:0,29:NM_152290.2(C1orf158) c.571T>C (p.Phe191Leu),NM_152290.2(C1orf158) c.571T>C (p.Phe191Leu):0.83,0.83:0.824619,0.824619 1 12820885 . G . . NT END=12835010;NT GT ./. 1 12835298 . G . . NT END=12835685;NT GT ./. 1 12835868 rs1812242 T C 487 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.2835,T/0.7165;Gene=PRAMEF12/NM_001080830.4/1;CC=c.470T>C;ProtCh=p.M157T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:137:100:0:0:137:4222:486.85:279.03:207.83:1.00:1.00:1.00:60:40.7:0:0:84:65:34:NM_001080830.1(PRAMEF12) c.470T>C (p.Met157Thr),NM_001080830.1(PRAMEF12) c.470T>C (p.Met157Thr):0.74,0.74:0.736814,0.736814 1 12836262 . G . . NT END=12837153;NT GT ./. 1 12837634 rs848578 T A 790 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=219;DB;DBA=NA;PAF=NA;Gene=PRAMEF12/NM_001080830.4/1;CC=c.1344T>A;ProtCh=p.I448=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:219:112:0:0:219:6862:790.17:298.36:491.81:1.00:1.00:1.00:60:37.8:0:0:77:72:40:NM_001080830.1(PRAMEF12) c.1344T>A (p.(=)),NM_001080830.1(PRAMEF12) c.1344T>A (p.(=)):0.7,0.7:0.682224,0.682224 1 12837743 . A . . NT END=12853376;NT GT ./. 1 12837840 rs848577 G C 129 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.3375,G/0.6625;Gene=PRAMEF12/NM_001080830.4/1;CC=c.*98G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A,C:39:0:0:0:2,37:26,1126:1.17,129.39:0.00,0.00:1.17,129.39:0.00,1.00:0.00,0.00:0.00,1.00:60,60:36.0,38.4:0,0:0,0:38,102:112,48:3,33:NM_001080830.1(PRAMEF12) c.*98G>C,NM_001080830.1(PRAMEF12) c.*98G>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 12853140 rs2359494 T C 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=121;Gene=PRAMEF1/NM_023013.4/1;CC=c.-25-212T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:27:0:0:10,17:309,498:27.95,0.00:26.13,0.00:1.82,0.00:1.00,0.00:1.00,0.00:0.58,0.00:51,60:110.4,18.4:0,0:0,0:49,31:102,120:31,19:NM_023013.2(PRAMEF1) c.-25-212T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12853217 rs5000865 A T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=167;Gene=PRAMEF1/NM_023013.4/1;CC=c.-25-135A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:47:46:0:0:36,11:1085,310:0.00,25.16:0.00,21.81:0.00,3.35:0.00,1.00:0.00,1.00:0.00,0.49:60,51:9.2,134.0:0,0:0,0:44,95:105,56:34,29:-,NM_023013.2(PRAMEF1) c.-25-135A>T:-,NOT_FOUND:-,NOT_FOUND 1 12853230 rs115390497 G A 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.-25-122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:51:50:0:0:7,44:230,1342:17.49,0.00:14.78,0.00:2.71,0.00:0.92,0.00:1.00,0.00:0.43,0.00:49,60:159.4,21.6:0,0:0,0:108,50:43,100:16,32:NM_023013.2(PRAMEF1) c.-25-122G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12853231 rs5000864 T C 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=68;Gene=PRAMEF1/NM_023013.4/1;CC=c.-25-121T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:50:0:0:10,41:345,1189:28.33,0.00:25.26,0.00:3.07,0.00:0.99,0.00:1.00,0.00:0.46,0.00:51,60:140.6,16.1:0,0:0,0:101,45:50,106:21,29:NM_023013.2(PRAMEF1) c.-25-121T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12853243 rs5000863 A T 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=29;Gene=PRAMEF1/NM_023013.4/1;CC=c.-25-109A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:54:53:0:0:45,9:1422,303:0.00,24.04:0.00,21.04:0.00,3.00:0.00,0.98:0.00,1.00:0.00,0.45:60,51:15.6,146.7:0,0:0,0:52,105:99,46:29,16:-,NM_023013.2(PRAMEF1) c.-25-109A>T:-,NOT_FOUND:-,NOT_FOUND 1 12853403 rs1737157 A C 315 lc VT=SNV;PN=T;NN=C;SST=Single;DP=245;DB;DBA=NA;PAF=A/0.6106,C/0.3894,G/.;Gene=PRAMEF1/NM_023013.4/1;CC=c.27A>C;ProtCh=p.L9=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:245:205:0:0:141,103,1:4277,3380,10:0.00,314.99,-0.20:0.00,223.40,-0.12:0.00,91.59,-0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,56,47:9.4,42.1,228.0:0,0,0:0,0,0:63,72,68:86,78,83:34,33,0:-,NM_023013.2(PRAMEF1) c.27A>C (p.(=)):-,0.35:-,NOT_FOUND 1 12853664 . G . . NT END=12854063;NT GT ./. 1 12853750 rs61775048 G A 148 nt VT=SNV;PN=T;NN=G;SST=Single;DP=180;DB;DBA=NA;PAF=NA;NP=2603;Gene=PRAMEF1/NM_023013.4/1;CC=c.287+87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:180:49:0:0:54,126:1696,3889:147.60,0.00:50.23,0.00:97.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:67.4,6.0:0,0:0,0:65,96:85,51:30,31:NM_023013.2(PRAMEF1) c.287+87G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12853805 rs61775049 T G 140 nt VT=SNV;PN=T;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=588;Gene=PRAMEF1/NM_023013.4/1;CC=c.287+142T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:145:19:0:0:1,1,49,94:8,8,1568,2886:-0.24,-0.24,140.26,0.00:-0.04,-0.04,17.60,0.00:-0.21,-0.21,122.66,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:52,29,50,60:60.0,235.0,77.4,8.0:0,0,0,0:0,0,0,0:51,84,93,103:100,33,58,47:0,0,22,32:NM_023013.2(PRAMEF1) c.287+142T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12853872 rs4989048 A T 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=717;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-192A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:91:39:0:0:77,1,13:2194,10,427:0.00,-0.26,32.79:0.00,-0.17,3.43:0.00,-0.08,29.36:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,52,31:11.7,60.0,80.9:0,0,0:0,0,0:79,118,117:71,33,34:32,0,13:-,NM_023013.2(PRAMEF1) c.288-192A>T:-,NOT_FOUND:-,NOT_FOUND 1 12853938 rs4989043 T C 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:C,T:96:79:0:0:8,88:258,2534:17.68,0.00:18.32,0.00:-0.64,0.00:0.92,0.00:0.99,0.00:0.66,0.00:40,60:245.8,18.4:0,0:0,0:12,60:138,91:3,37:NM_023013.2(PRAMEF1) c.288-126T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12853939 rs4989042 G A 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,G:98:83:0:0:11,87:363,2751:26.62,0.00:27.39,0.00:-0.77,0.00:0.99,0.00:1.00,0.00:0.74,0.00:40,60:233.6,18.8:0,0:0,0:12,60:139,91:6,38:NM_023013.2(PRAMEF1) c.288-125G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12853975 rs72472661 G T 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6296,T/0.3704;NP=1688;PC=0.004;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-89G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:177:162:0:0:136,41:4516,1303:0.00,108.28:0.00,103.31:0.00,4.97:0.00,1.00:0.00,1.00:0.00,0.98:60,52:40.5,230.4:0,0:0,0:40,21:109,130:33,15:-,NM_023013.2(PRAMEF1) c.288-89G>T:-,NOT_FOUND:-,NOT_FOUND 1 12853998 rs1737155 C G 202 nt VT=SNV;PN=A;NN=A;SST=Single;DP=252;DB;DBA=NA;PAF=NA;NP=1085;PC=0.001;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-66C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:252:232:0:0:182,70:5874,2330:0.00,201.77:0.00,176.37:0.00,25.40:0.00,1.00:0.00,1.00:0.00,1.00:60,54:120.7,38.6:0,0:0,0:31,43:119,105:18,28:-,NM_023013.2(PRAMEF1) c.288-66C>G:-,NOT_FOUND:-,NOT_FOUND 1 12854021 rs140629685 G T 361 nt VT=SNV;PN=T;NN=A;SST=Single;DP=303;DB;DBA=NA;PAF=G/0.499,T/0.501;NP=1539;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-43G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:303:280:0:0:1,175,127:9,5883,3900:-0.20,0.00,361.13:-0.16,0.00,312.37:-0.04,0.00,48.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:49,60,54:145.0,15.5,203.4:0,0,0:0,0,0:126,49,44:20,98,107:0,26,21:-,NM_023013.2(PRAMEF1) c.288-43G>T:-,NOT_FOUND:-,NOT_FOUND 1 12854022 rs151202400 A T 359 nt VT=SNV;PN=G;NN=G;SST=Single;DP=304;DB;DBA=NA;PAF=A/0.499,T/0.501;NP=1478;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-42A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:304:282:0:0:178,126:5777,3889:0.00,359.26:0.00,304.95:0.00,54.32:0.00,1.00:0.00,1.00:0.00,1.00:60,52:16.4,203.6:0,0:0,0:48,41:102,108:27,17:-,NM_023013.2(PRAMEF1) c.288-42A>T:-,NOT_FOUND:-,NOT_FOUND 1 12854041 rs76280430 T C 417 nt VT=SNV;PN=G;NN=C;SST=Single;DP=346;DB;DBA=NA;PAF=NA;NP=1142;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-23T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:346:312:0:0:1,135,210:10,4526,6384:-0.24,416.76,0.00:-0.18,321.90,0.00:-0.06,94.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:37,52,60:192.0,202.0,14.3:0,0,0:0,0,0:44,60,45:107,89,102:0,21,27:NM_023013.2(PRAMEF1) c.288-23T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12854052 rs78573959 C T 289 nt VT=SNV;PN=A;NN=T;SST=Single;DP=371;DB;DBA=NA;PAF=NA;NP=9;Gene=PRAMEF1/NM_023013.4/1;CC=c.288-12C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:371:334:0:0:268,103:9012,3350:0.00,288.99:0.00,228.12:0.00,60.87:0.00,1.00:0.00,1.00:0.00,1.00:60,52:30.1,222.2:0,0:0,0:50,70:97,79:29,21:-,NM_023013.2(PRAMEF1) c.288-12C>T:-,NOT_FOUND:-,NOT_FOUND 1 12854068 rs79492089 T C 117 lc VT=SNV;PN=G;NN=G;SST=Single;DP=413;DB;DBA=NA;PAF=NA;PC=0.024;Gene=PRAMEF1/NM_023013.4/1;CC=c.292T>C;ProtCh=p.W98R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:413:368:0:0:50,4,359:1585,41,10810:116.69,-1.11,0.00:70.36,-0.71,0.00:46.33,-0.40,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,52,60:122.2,184.8,69.0:0,0,0:0,0,0:75,73,54:74,78,90:31,21,31:NM_023013.2(PRAMEF1) c.292T>C (p.Trp98Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 12854090 rs79698223 T A 297 lc VT=SNV;PN=T;NN=G;SST=Single;DP=456;DB;DBA=NA;PAF=NA;NP=1458;PC=0.003;Gene=PRAMEF1/NM_023013.4/1;CC=c.314T>A;ProtCh=p.L105*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:456:390:0:0:111,1,344:3533,5,11006:296.55,-0.29,0.00:197.75,-0.21,0.00:98.80,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,1,60:205.6,243.0,26.2:0,0,0:0,0,0:79,65,57:66,85,87:31,0,31:NM_023013.2(PRAMEF1) c.314T>A (p.Leu105*),-:NOT_FOUND,-:NOT_FOUND,- 1 12854097 rs76193255 T C 292 lc VT=SNV;PN=A;NN=G;SST=Single;DP=479;DB;DBA=NA;PAF=T/0.6725,C/0.3275;NP=1805;Gene=PRAMEF1/NM_023013.4/1;CC=c.321T>C;ProtCh=p.D107=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:479:402:0:0:114,365:3516,11547:291.96,0.00:191.37,0.00:100.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:207.7,24.6:0,0:0,0:90,59:54,85:31,32:NM_023013.2(PRAMEF1) c.321T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 12854105 rs76648802 A G 304 lc VT=SNV;PN=G;NN=G;SST=Single;DP=488;DB;DBA=NA;PAF=NA;NP=2093;PC=0.001;Gene=PRAMEF1/NM_023013.4/1;CC=c.329A>G;ProtCh=p.E110G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:488:392:0:0:371,117:12363,3648:0.00,303.94:0.00,181.53:0.00,122.41:0.00,1.00:0.00,1.00:0.00,1.00:60,52:22.6,201.5:0,0:0,0:59,96:85,49:31,32:-,NM_023013.2(PRAMEF1) c.329A>G (p.Glu110Gly):-,NOT_FOUND:-,NOT_FOUND 1 12854162 rs199893374 C T 355 lc VT=SNV;PN=A;NN=G;SST=Single;DP=496;DB;DBA=NA;PAF=NA;NP=1716;Gene=PRAMEF1/NM_023013.4/1;CC=c.386C>T;ProtCh=p.T129M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:496:330:0:0:359,3,134:11465,33,4163:0.00,-0.69,355.06:0.00,-0.30,125.47:0.00,-0.39,229.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,25,40:5.3,180.3,118.7:0,0,0:0,0,0:76,76,85:73,75,65:33,17,39:-,NM_023013.2(PRAMEF1) c.386C>T (p.Thr129Met):-,NOT_FOUND:-,NOT_FOUND 1 12854188 rs76030350 T C 422 lc VT=SNV;PN=C;NN=G;SST=Single;DP=529;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.412T>C;ProtCh=p.C138R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:529:356:0:0:164,365:4859,12357:421.74,0.00:195.87,0.00:225.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,60:83.2,6.4:0,0:0,0:51,81:99,69:38,37:NM_023013.2(PRAMEF1) c.412T>C (p.Cys138Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 12854356 rs61775051 T C 225 lc VT=SNV;PN=A;NN=A;SST=Single;DP=404;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.580T>C;ProtCh=p.Y194H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:404:206:0:0:82,322:2740,10168:224.72,0.00:32.60,0.00:192.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:66.3,12.1:0,0:0,0:100,83:50,65:22,36:NM_023013.2(PRAMEF1) c.580T>C (p.Tyr194His),-:NOT_FOUND,-:NOT_FOUND,- 1 12854414 rs1063769 G A 153 lc VT=SNV;PN=C;NN=C;SST=Single;DP=379;DB;DBA=NA;PAF=NA;NP=2380;Gene=PRAMEF1/NM_023013.4/1;CC=c.638G>A;ProtCh=p.R213H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:379:213:0:0:66,312,1:1972,9914,14:152.87,0.00,-0.32:22.84,0.00,-0.11:130.03,0.00,-0.22:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,60,57:113.8,27.9,88.0:0,0,0:0,0,0:63,68,38:69,80,112:33,36,0:NM_023013.2(PRAMEF1) c.638G>A (p.Arg213His),-:NOT_FOUND,-:NOT_FOUND,- 1 12854428 rs1769774 C T 390 lc VT=SNV;PN=G;NN=C;SST=Single;DP=350;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.652C>T;ProtCh=p.P218S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:350:195:0:0:2,211,137:19,6840,4258:-0.44,0.00,389.78:-0.18,0.00,166.86:-0.26,0.00,222.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:57,60,60:106.5,40.7,52.0:0,0,0:0,0,0:44,66,71:88,81,73:19,31,32:-,NM_023013.2(PRAMEF1) c.652C>T (p.Pro218Ser):-,0.29:-,0.282485 1 12854474 rs1063774 A C 94 lc VT=SNV;PN=A;NN=T;SST=Single;DP=333;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PRAMEF1/NM_023013.4/1;CC=c.698A>C;ProtCh=p.N233T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:333:177:0:0:291,41,1:9305,1282,10:0.00,94.09,-0.35:0.00,9.67,-0.13:0.00,84.42,-0.22:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,43,43:40.7,133.8,252.0:0,0,0:0,0,0:85,104,88:62,42,63:31,9,0:-,NM_023013.2(PRAMEF1) c.698A>C (p.Asn233Thr):-,NOT_FOUND:-,NOT_FOUND 1 12854479 rs1063775 C G 87 lc VT=SNV;PN=T;NN=G;SST=Single;DP=323;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.703C>G;ProtCh=p.R235G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:323:168:0:0:286,37:8881,1194:0.00,87.25:0.00,7.26:0.00,80.00:0.00,1.00:0.00,1.00:0.00,1.00:60,42:42.4,138.6:0,0:0,0:87,109:60,38:34,9:-,NM_023013.2(PRAMEF1) c.703C>G (p.Arg235Gly):-,NOT_FOUND:-,NOT_FOUND 1 12854510 rs76932259 A C 62 lc VT=SNV;PN=T;NN=C;SST=Single;DP=301;DB;DBA=NA;PAF=NA;NP=63;Gene=PRAMEF1/NM_023013.4/1;CC=c.734A>C;ProtCh=p.Y245S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,C:301:155:0:0:273,28:8482,893:0.00,62.24:0.00,4.05:0.00,58.19:0.00,1.00:0.00,1.00:0.00,1.00:60,41:48.0,141.8:0,0:0,0:93,135:57,15:34,6:-,NM_023013.2(PRAMEF1) c.734A>C (p.Tyr245Ser):-,NOT_FOUND:-,NOT_FOUND 1 12854530 rs1063776 C G 937 lc VT=SNV;PN=C;NN=A;SST=Single;DP=257;DB;DBA=NA;PAF=G/0.1328,A/.,C/0.8672;Gene=PRAMEF1/NM_023013.4/1;CC=c.754C>G;ProtCh=p.Q252E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:257:134:0:0:1,256:33,8155:1.40,936.50:0.00,336.44:1.40,600.06:0.00,1.00:0.00,1.00:0.00,1.00:56,60:65.0,56.6:0,0:0,0:82,80:67,70:0,41:NM_023013.2(PRAMEF1) c.754C>G (p.Gln252Glu),NM_023013.2(PRAMEF1) c.754C>G (p.Gln252Glu):0.87,0.87:0.872808,0.872808 1 12854544 rs1063778 T C 331 lc VT=SNV;PN=T;NN=G;SST=Single;DP=248;DB;DBA=NA;PAF=T/0.641,C/0.359;Gene=PRAMEF1/NM_023013.4/1;CC=c.768T>C;ProtCh=p.V256=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:248:131:0:0:113,135:3518,4398:331.22,0.00:129.94,0.00:201.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.1,32.9:0,0:0,0:86,65:62,85:32,43:NM_023013.2(PRAMEF1) c.768T>C (p.(=)),-:0.35,-:0.323823,- 1 12854643 . G . . NT END=12854839;NT GT ./. 1 12854713 rs11121979 G T 188 nt VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.5705,G/0.4295;Gene=PRAMEF1/NM_023013.4/1;CC=c.866+71G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:118:39:0:0:58,60:1824,1949:0.00,188.01:0.00,55.63:0.00,132.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.3,37.3:0,0:0,0:103,89:48,61:27,34:-,NM_023013.2(PRAMEF1) c.866+71G>T:-,0.46:-,NOT_FOUND 1 12854716 rs1737150 A G 171 nt VT=SNV;PN=C;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.6458,G/0.3542;NP=1858;Gene=PRAMEF1/NM_023013.4/1;CC=c.866+74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:117:39:0:0:59,58:1921,1790:0.00,171.32:0.00,42.76:0.00,128.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.2,37.4:0,0:0,0:87,102:64,47:35,30:-,NM_023013.2(PRAMEF1) c.866+74A>G:-,NOT_FOUND:-,NOT_FOUND 1 12854836 rs2744047 G C 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=126;Gene=PRAMEF1/NM_023013.4/1;CC=c.866+194G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:128:89:0:0:21,106,1:667,3449,7:52.03,0.00,-0.33:49.80,0.00,-0.18:2.22,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,60,19:37.2,33.1,163.0:0,0,0:0,0,0:42,63,114:109,80,36:15,37,0:NM_023013.2(PRAMEF1) c.866+194G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12854842 rs11121980 G C 164 lc VT=SNV;PN=G;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.5972,G/0.4028;Gene=PRAMEF1/NM_023013.4/1;CC=c.866+200G>C;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.-145-1G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:128:89:0:0:56,72:1751,2232:163.65,0.00:90.13,0.00:73.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,28.5:0,0:0,0:55,67:94,82:30,30:NM_023013.2(PRAMEF1) c.866+200G>C,-:0.41,-:NOT_FOUND,- 1 12854930 rs2744046 T G 96 lc VT=SNV;PN=T;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.7125,G/0.2875;Gene=PRAMEF1/NM_023013.4/1;CC=c.866+288T>G;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.-58T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:115:78:0:0:35,80:1104,2570:96.39,0.00:40.14,0.00:56.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,56:45.7,26.9:0,0:0,0:75,90:75,58:41,23:NM_023013.2(PRAMEF1) c.866+288T>G,-:0.29,-:NOT_FOUND,- 1 12855004 rs200225858 C T 51 lc VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=8;Gene=PRAMEF1/NM_023013.4/1;CC=c.866+362C>T;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.17C>T;ProtCh=p.A6V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:36:0:0:63,22:1919,612:0.00,50.62:0.00,7.52:0.00,43.10:0.00,1.00:0.00,1.00:0.00,1.00:52,40:22.7,44.1:0,0:0,0:96,63:53,86:40,30:-,NM_023013.2(PRAMEF1) c.866+362C>T:-,NOT_FOUND:-,NOT_FOUND 1 12855119 . G . . NT END=12855586;NT GT ./. 1 12855338 rs57148710 G GAA 8 idl,nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;PC=0.001;Gene=PRAMEF1/NM_023013.4/1;CC=c.867-240_867-239dupAA;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.131+229_131+230dupAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,GAA:28:26:7:0:24,4:720,197:0.00,8.33:0.00,5.82:0.00,2.51:0.00,0.64:0.00,0.92:0.00,0.49:60,60:27.6,170.2:0,3:0,0:39,19:111,131:30,14:-,NM_023013.2(PRAMEF1) c.867-249_867-248insAA:-,NOT_FOUND:-,NOT_FOUND 1 12855374 rs182144248 A C 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=38;Gene=PRAMEF1/NM_023013.4/1;CC=c.867-213A>C;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.132-213A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:49:47:0:0:38,11:1149,355:0.00,29.43:0.00,26.41:0.00,3.02:0.00,1.00:0.00,1.00:0.00,0.50:60,54:19.7,131.0:0,0:0,0:41,42:107,109:28,19:-,NM_023013.2(PRAMEF1) c.867-213A>C:-,NOT_FOUND:-,NOT_FOUND 1 12855406 rs202209645 G T 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.9229,T/0.07708;NP=2;PC=0.001;Gene=PRAMEF1/NM_023013.4/1;CC=c.867-181G>T;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.132-181G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:55:54:0:0:40,15:1159,467:0.00,39.89:0.00,36.84:0.00,3.04:0.00,1.00:0.00,1.00:0.00,0.56:60,60:21.3,117.5:0,0:0,0:54,66:94,84:21,29:-,NM_023013.2(PRAMEF1) c.867-181G>T:-,NOT_FOUND:-,NOT_FOUND 1 12855407 rs200409483 G T 36 nt VT=SNV;PN=G;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.9229,T/0.07708;NP=30;Gene=PRAMEF1/NM_023013.4/1;CC=c.867-180G>T;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.132-180G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:55:54:0:0:41,14:1173,432:0.00,36.35:0.00,33.23:0.00,3.12:0.00,1.00:0.00,1.00:0.00,0.54:60,54:21.5,123.6:0,0:0,0:57,61:93,89:21,28:-,NM_023013.2(PRAMEF1) c.867-180G>T:-,NOT_FOUND:-,NOT_FOUND 1 12855429 rs373283256 A G 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=1;Gene=PRAMEF1/NM_023013.4/1;CC=c.867-158A>G;VC=Intron;Gene=PRAMEF1/NM_001294139.1/0;CC=c.132-158A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:65:65:0:0:55,10:1666,341:0.00,26.76:0.00,26.80:0.00,-0.04:0.00,0.99:0.00,0.99:0.00,0.44:60,37:24.5,125.6:0,0:0,0:63,69:88,82:37,21:-,NM_023013.2(PRAMEF1) c.867-158A>G:-,NOT_FOUND:-,NOT_FOUND 1 12855644 rs5003729 A G 54 lc VT=SNV;PN=A;NN=G;SST=Single;DP=300;DB;DBA=NA;PAF=NA;NP=9;Gene=PRAMEF1/NM_023013.4/1;CC=c.924A>G;ProtCh=p.E308=;VC=Silent;Gene=PRAMEF1/NM_001294139.1/0;CC=c.189A>G;ProtCh=p.E63=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,C,G:300:223:0:0:272,2,26:8957,20,800:0.00,-0.68,54.30:0.00,-0.39,19.36:0.00,-0.29,34.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:53,40,40:8.5,66.5,112.0:0,0,0:0,0,0:55,66,59:95,85,90:31,3,19:-,NM_023013.2(PRAMEF1) c.924A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12855647 rs200536957 C T 56 lc VT=SNV;PN=A;NN=A;SST=Single;DP=302;DB;DBA=NA;PAF=NA;NP=9;PC=0.001;Gene=PRAMEF1/NM_023013.4/1;CC=c.927C>T;ProtCh=p.D309=;VC=Silent;Gene=PRAMEF1/NM_001294139.1/0;CC=c.192C>T;ProtCh=p.D64=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,C,T:302:224:0:0:1,277,24:10,9148,813:-0.33,0.00,56.42:-0.20,0.00,20.18:-0.13,0.00,36.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,53,40:78.0,9.6,113.5:0,0,0:0,0,0:41,58,69:90,93,81:0,31,19:-,NM_023013.2(PRAMEF1) c.927C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12855648 rs200816125 A G 58 lc VT=SNV;PN=C;NN=T;SST=Single;DP=304;DB;DBA=NA;PAF=NA;NP=16;Gene=PRAMEF1/NM_023013.4/1;CC=c.928A>G;ProtCh=p.M310V;VC=Missense;Gene=PRAMEF1/NM_001294139.1/0;CC=c.193A>G;ProtCh=p.M65V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,C,G:304:225:0:0:278,1,25:9184,11,837:0.00,-0.32,58.17:0.00,-0.23,20.46:0.00,-0.09,37.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:53,40,40:9.1,204.0,113.4:0,0,0:0,0,0:64,130,67:85,20,84:35,0,20:-,NM_023013.2(PRAMEF1) c.928A>G (p.Met310Val):-,NOT_FOUND:-,NOT_FOUND 1 12855835 rs1063795 C G 1308 lc VT=SNV;PN=G;NN=C;SST=Single;DP=353;DB;DBA=NA;PAF=NA;PC=0.230;Gene=PRAMEF1/NM_023013.4/1;CC=c.1115C>G;ProtCh=p.A372G;VC=Missense;Gene=PRAMEF1/NM_001294139.1/0;CC=c.380C>G;ProtCh=p.A127G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:353:206:0:0:352,1:11409,9:1307.59,0.03:575.67,0.03:731.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,58:83.3,135.0:0,0:0,0:80,72:71,79:34,0:NM_023013.2(PRAMEF1) c.1115C>G (p.Ala372Gly),NM_023013.2(PRAMEF1) c.1115C>G (p.Ala372Gly):0.9,0.9:NOT_FOUND,NOT_FOUND 1 12855845 rs1063797 G C 1337 lc VT=SNV;PN=G;NN=T;SST=Single;DP=351;DB;DBA=NA;PAF=NA;PC=0.005;Gene=PRAMEF1/NM_023013.4/1;CC=c.1125G>C;ProtCh=p.R375=;VC=Silent;Gene=PRAMEF1/NM_001294139.1/0;CC=c.390G>C;ProtCh=p.R130=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:351:201:0:0:1,349,1:9,11717,10:0.03,1336.91,0.03:0.00,607.72,0.00:0.03,729.19,0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:57,60,43:78.0,85.4,145.0:0,0,0:0,0,0:80,89,70:69,62,57:0,32,0:NM_023013.2(PRAMEF1) c.1125G>C (p.(=)),NM_023013.2(PRAMEF1) c.1125G>C (p.(=)):0.94,0.94:NOT_FOUND,NOT_FOUND 1 12855878 rs1052908 A C 345 lc VT=SNV;PN=G;NN=A;SST=Single;DP=382;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.1158A>C;ProtCh=p.R386S;VC=Missense;Gene=PRAMEF1/NM_001294139.1/0;CC=c.423A>C;ProtCh=p.R141S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:382:203:0:0:260,121,1:8327,3907,11:0.00,344.93,-0.30:0.00,75.45,-0.14:0.00,269.48,-0.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,59,50:73.0,96.3,115.0:0,0,0:0,0,0:66,105,137:83,45,10:41,27,0:-,NM_023013.2(PRAMEF1) c.1158A>C (p.Arg386Ser):-,NOT_FOUND:-,NOT_FOUND 1 12855884 rs78124722 C T 102 sb,lc VT=SNV;PN=G;NN=A;SST=Single;DP=382;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.1164C>T;ProtCh=p.C388=;VC=Silent;Gene=PRAMEF1/NM_001294139.1/0;CC=c.429C>T;ProtCh=p.C143=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:382:202:0:0:1,335,46:9,11072,1412:-0.41,0.00,102.33:-0.16,0.00,108.14:-0.25,0.00,-5.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,43:159.0,70.7,147.6:0,0,0:0,0,0:119,86,25:32,63,125:0,39,9:-,NM_023013.2(PRAMEF1) c.1164C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12855893 rs77615669 T G 130 sb,lc VT=SNV;PN=T;NN=G;SST=Single;DP=372;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.1173T>G;ProtCh=p.I391M;VC=Missense;Gene=PRAMEF1/NM_001294139.1/0;CC=c.438T>G;ProtCh=p.I146M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:372:200:0:0:1,49,322:13,1691,10294:-0.35,129.63,0.00:-0.16,135.48,0.00:-0.19,-5.85,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,43,60:90.0,147.4,63.5:0,0,0:0,0,0:18,34,82:133,117,67:0,10,39:NM_023013.2(PRAMEF1) c.1173T>G (p.Ile391Met),-:0.08,-:NOT_FOUND,- 1 12855895 rs200548257 A G 116 sb,lc VT=SNV;PN=G;NN=C;SST=Single;DP=375;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.1175A>G;ProtCh=p.D392G;VC=Missense;Gene=PRAMEF1/NM_001294139.1/0;CC=c.440A>G;ProtCh=p.D147G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:375:201:0:0:324,2,49:9935,23,1552:0.00,-0.55,115.75:0.00,-0.27,121.74:0.00,-0.28,-5.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,43:64.0,70.5,147.6:0,0,0:0,0,0:87,52,36:63,99,115:39,51,10:-,NM_023013.2(PRAMEF1) c.1175A>G (p.Asp392Gly):-,NOT_FOUND:-,NOT_FOUND 1 12855896 rs201337684 C T 116 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=380;DB;DBA=NA;PAF=C/0.9914,T/0.008586;Gene=PRAMEF1/NM_023013.4/1;CC=c.1176C>T;ProtCh=p.D392=;VC=Silent;Gene=PRAMEF1/NM_001294139.1/0;CC=c.441C>T;ProtCh=p.D147=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:380:206:0:0:328,52:9967,1572:0.00,116.40:0.00,123.12:0.00,-6.72:0.00,1.00:0.00,1.00:0.00,1.00:60,43:63.4,146.1:0,0:0,0:88,36:62,114:39,10:-,NM_023013.2(PRAMEF1) c.1176C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12856010 rs61775053 C G 699 lc VT=SNV;PN=T;NN=A;SST=Single;DP=649;DB;DBA=NA;PAF=NA;NP=3284;Gene=PRAMEF1/NM_023013.4/1;CC=c.1290C>G;ProtCh=p.F430L;VC=Missense;Gene=PRAMEF1/NM_001294139.1/0;CC=c.555C>G;ProtCh=p.F185L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:649:449:0:0:1,416,231,1:9,13751,7724,7:-0.34,0.00,699.45,-0.35:-0.17,0.00,342.30,-0.17:-0.17,0.00,357.15,-0.18:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:42,44,44,47:50.0,15.2,56.2,206.0:0,0,0,0:0,0,0,0:8,71,68,67:143,78,83,78:0,32,31,0:-,NM_023013.2(PRAMEF1) c.1290C>G (p.Phe430Leu):-,NOT_FOUND:-,NOT_FOUND 1 12856079 rs142994008 C T 186 lc VT=SNV;PN=G;NN=C;SST=Single;DP=604;DB;DBA=NA;PAF=NA;NP=1211;Gene=PRAMEF1/NM_023013.4/1;CC=c.1359C>T;ProtCh=p.G453=;VC=Silent;Gene=PRAMEF1/NM_001294139.1/0;CC=c.624C>T;ProtCh=p.G208=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:604:324:0:0:2,525,2,75:21,17048,18,2480:-0.61,0.00,-0.63,185.71:-0.24,0.00,-0.21,51.84:-0.36,0.00,-0.42,133.87:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:43,60,43,43:64.5,34.1,92.0,69.2:0,0,0,0:0,0,0,0:101,97,66,97:49,51,75,51:4,30,45,27:-,NM_023013.2(PRAMEF1) c.1359C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12856111 rs61775054 C T 725 lc VT=SNV;PN=C;NN=G;SST=Single;DP=486;DB;DBA=NA;PAF=NA;NP=3398;Gene=PRAMEF1/NM_023013.4/1;CC=c.1391C>T;ProtCh=p.P464L;VC=Missense;Gene=PRAMEF1/NM_001294139.1/0;CC=c.656C>T;ProtCh=p.P219L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:486:213:0:0:1,251,2,232:11,7506,17,7591:-0.19,0.00,-0.37,724.70:-0.04,0.00,-0.12,195.86:-0.15,0.00,-0.25,528.84:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:30,60,42,45:33.0,15.6,100.0,74.9:0,0,0,0:0,0,0,0:69,97,75,110:70,47,75,37:0,31,0,24:-,NM_023013.2(PRAMEF1) c.1391C>T (p.Pro464Leu):-,NOT_FOUND:-,NOT_FOUND 1 12856146 . G . . NT END=12884799;NT GT ./. 1 12856146 rs1974302 G A 155 nt VT=SNV;PN=G;NN=G;SST=Single;DP=312;DB;DBA=NA;PAF=NA;Gene=PRAMEF1/NM_023013.4/1;CC=c.*1G>A;VC=3UTR;Gene=PRAMEF1/NM_001294139.1/0;CC=c.*1G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:312:113:0:0:59,1,252:1926,5,7828:155.24,-0.32,0.00:38.21,-0.08,0.00:117.04,-0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,43:46.3,24.0,46.4:0,0,0:0,0,0:114,115,110:37,14,39:18,0,23:NM_023013.2(PRAMEF1) c.*1G>A,-:0.32,-:NOT_FOUND,- 1 12856153 rs61775055 G A 288 nt VT=SNV;PN=C;NN=T;SST=Single;DP=269;DB;DBA=NA;PAF=NA;NP=3055;Gene=PRAMEF1/NM_023013.4/1;CC=c.*8G>A;VC=3UTR;Gene=PRAMEF1/NM_001294139.1/0;CC=c.*8G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:269:91:0:0:99,2,168:3170,23,5373:287.76,-0.30,0.00:59.15,0.02,0.00:228.60,-0.31,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,27,60:85.2,131.0,20.1:0,0,0:0,0,0:119,119,103:30,31,47:14,2,29:NM_023013.2(PRAMEF1) c.*8G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12856219 rs1769781 G A 70 nt VT=SNV;PN=T;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=181;Gene=PRAMEF1/NM_023013.4/1;CC=c.*74G>A;VC=3UTR;Gene=PRAMEF1/NM_001294139.1/0;CC=c.*74G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:15:0:0:25,63:807,1980:69.83,0.00:6.99,0.00:62.84,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:75.8,7.5:0,0:0,0:61,114:90,36:61,20:NM_023013.2(PRAMEF1) c.*74G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12856273 rs2493877 A C 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.6575,C/0.3425;NP=250;PC=0.005;Gene=PRAMEF1/NM_023013.4/1;CC=c.*128A>C;VC=3UTR;Gene=PRAMEF1/NM_001294139.1/0;CC=c.*128A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:48:1:0:0:29,18,1:856,552,14:0.00,50.20,0.13:0.00,-0.20,-0.01:0.00,50.41,0.14:0.00,1.00,0.00:0.00,0.58,0.00:0.00,1.00,0.00:60,60,55:4.3,57.3,186.0:0,0,0:0,0,0:127,71,12:24,79,136:18,28,0:-,NM_023013.2(PRAMEF1) c.*128A>C:-,NOT_FOUND:-,NOT_FOUND 1 12884615 rs72550060 C T 82 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:C,T:24:24:0:0:1,23:13,729:0.00,82.20:0.00,82.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:42,51:163.0,39.3:0,0:0,0:8,50:143,101:0,22:NM_001146344.1(PRAMEF11) c.*185G>A,NM_001146344.1(PRAMEF11) c.*185G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 12885289 rs200907281 G T 193 lc VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=625;Gene=PRAMEF11/NM_001146344.2/1;CC=c.947C>A;ProtCh=p.S316Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:G,T:64:5:0:0:3,61:63,1696:0.00,193.18:0.00,3.45:0.00,189.73:0.00,1.00:0.00,1.00:0.00,1.00:40,40:17.3,42.3:0,0:0,0:22,104:129,43:11,37:NM_001146344.1(PRAMEF11) c.822C>A (p.(=)),NM_001146344.1(PRAMEF11) c.822C>A (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 12885362 . C . . NT END=12887107;NT GT ./. 1 12885551 rs2982169 G A 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6522,A/0.3478;NP=5;Gene=PRAMEF11/NM_001146344.2/1;CC=c.875-190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:8,6:191,203:18.72,0.00:0.00,0.00:18.72,0.00:1.00,0.00:0.00,0.00:1.00,0.00:25,40:79.8,21.3:0,0:0,0:103,110:47,40:22,23:NM_001146344.1(PRAMEF11) c.750-190C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12885584 rs1819129 A C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=31;Gene=PRAMEF11/NM_001146344.2/1;CC=c.875-223T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,C:10:0:0:0:5,5:167,175:0.00,16.88:0.00,0.00:0.00,16.88:0.00,0.95:0.00,0.00:0.00,0.95:24,25:44.6,68.6:0,0:0,0:47,134:103,17:11,4:-,NM_001146344.1(PRAMEF11) c.750-223T>G:-,NOT_FOUND:-,NOT_FOUND 1 12886938 rs2743672 T G 86 nt VT=SNV;PN=G;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.6356,G/0.3644;Gene=PRAMEF11/NM_001146344.2/1;CC=c.874+170A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:70:0:0:30,41:923,1167:85.65,0.00:82.16,0.00:3.48,0.00:1.00,0.00:1.00,0.00:0.72,0.00:60,60:47.7,25.7:0,0:0,0:53,43:97,107:31,29:NM_001146344.1(PRAMEF11) c.749+170A>C,-:0.38,-:NOT_FOUND,- 1 12887054 rs3738105 T C 334 nt VT=SNV;PN=T;NN=A;SST=Single;DP=283;DB;DBA=NA;PAF=NA;Gene=PRAMEF11/NM_001146344.2/1;CC=c.874+54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:283:265:0:0:105,62,116:3520,2065,3568:333.56,182.81,0.00:286.98,151.47,0.00:46.58,31.34,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,52,60:38.6,50.8,10.8:0,0,0:0,0,0:51,83,57:98,68,92:28,15,31:NM_001146344.1(PRAMEF11) c.749+54A>G,-:0.19,-:NOT_FOUND,- 1 12887174 rs61777003 C T 104 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=508;DB;DBA=NA;PAF=NA;NP=36;Gene=PRAMEF11/NM_001146344.2/1;CC=c.808G>A;ProtCh=p.A270T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:508:329:0:0:463,45:14711,1483:0.00,103.96:0.00,-11.26:0.00,115.21:0.00,1.00:0.00,1.00:0.00,1.00:42,40:11.9,52.5:0,0:0,0:68,98:83,53:35,26:-,NM_001146344.1(PRAMEF11) c.683G>A (p.Arg228His):-,NOT_FOUND:-,NOT_FOUND 1 12887549 rs2994114 T C 2110 lc VT=SNV;PN=T;NN=C;SST=Single;DP=573;DB;DBA=NA;PAF=C/0.2155,T/0.7845;Gene=PRAMEF11/NM_001146344.2/1;CC=c.433A>G;ProtCh=p.N145D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:573:349:0:0:2,568,2,1:19,18433,22,8:0.07,2110.06,0.08,0.00:0.07,970.86,0.08,0.00:0.00,1139.20,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:56,53,53,60:77.0,39.4,76.5,42.0:0,0,0,0:0,0,0,0:112,80,88,98:38,67,51,51:10,32,60,0:NM_001146344.1(PRAMEF11) c.308A>G (p.Glu103Gly),NM_001146344.1(PRAMEF11) c.308A>G (p.Glu103Gly):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 12887690 . C . . NT END=12888356;NT GT ./. 1 12887852 rs35409208 GT G 97 rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=103;Gene=PRAMEF11/NM_001146344.2/1;CC=c.293-164delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:58:0:2:32:24,2,32:712,14,984:0.00,-0.06,97.07:0.00,0.00,0.00:0.00,-0.06,97.07:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,9,60:42.6,123.5,19.8:0,0,0:0,0,0:130,23,89:11,127,62:19,7,27:-,NM_001146344.1(PRAMEF11) c.168-164delA:-,NOT_FOUND:-,NOT_FOUND 1 12887878 rs55743212 T C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.9966,C/0.003395;NP=860;Gene=PRAMEF11/NM_001146344.2/1;CC=c.293-189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:45:0:0:0:8,1,36:272,13,1130:21.96,0.00,0.00:0.00,0.00,0.00:21.96,0.00,0.00:0.97,0.00,0.00:0.00,0.00,0.00:0.97,0.00,0.00:56,36,60:123.9,123.0,18.2:0,0,0:0,0,0:57,111,98:93,28,52:3,0,28:NM_001146344.1(PRAMEF11) c.168-189A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12887932 rs2092146 T G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=3;Gene=PRAMEF11/NM_001146344.2/1;CC=c.293-243A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:G,T:34:6:0:0:7,27:208,851:16.65,0.00:-0.59,0.00:17.25,0.00:0.95,0.00:0.72,0.00:0.99,0.00:56,60:116.4,29.3:0,0:0,0:111,69:40,81:2,44:NM_001146344.1(PRAMEF11) c.168-243A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12887938 rs56153954 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=6;Gene=PRAMEF11/NM_001146344.2/1;CC=c.293-249G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:32:7:0:0:24,8:653,227:0.00,18.72:0.00,-0.86:0.00,19.58:0.00,0.98:0.00,0.84:0.00,1.00:60,56:29.4,115.6:0,0:0,0:69,117:82,34:45,3:-,NM_001146344.1(PRAMEF11) c.168-249G>A:-,NOT_FOUND:-,NOT_FOUND 1 12887991 rs55665110 A G 26 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=20;Gene=PRAMEF11/NM_001146344.2/1;CC=c.293-302T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:20:0:0:21,10:632,299:0.00,26.20:0.00,26.61:0.00,-0.40:0.00,1.00:0.00,1.00:0.00,0.97:60,53:43.3,70.4:0,0:0,0:87,14:63,136:33,13:-,NM_001146344.1(PRAMEF11) c.168-302T>C:-,NOT_FOUND:-,NOT_FOUND 1 12888024 rs2994115 G T 109 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4613,G/0.5387;NP=130;Gene=PRAMEF11/NM_001146344.2/1;CC=c.292+333C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:G,T:36:31:0:0:4,32:129,993:0.00,109.02:0.00,90.90:0.00,18.13:0.00,1.00:0.00,1.00:0.00,1.00:52,50:69.0,68.4:0,0:0,0:63,51:86,100:37,29:-,NM_001146344.1(PRAMEF11) c.167+333C>A:-,NOT_FOUND:-,NOT_FOUND 1 12888091 rs2790842 T G 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.3934,T/0.6066;NP=73;Gene=PRAMEF11/NM_001146344.2/1;CC=c.292+266A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:39:38:0:0:1,22,16:13,578,472:0.21,56.90,0.00:0.21,53.37,0.00:0.00,3.53,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.71,0.00:54,51,25:164.0,53.2,86.4:0,0,0:0,0,0:2,41,100:130,106,50:0,28,14:NM_001146344.1(PRAMEF11) c.167+266A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12888207 rs2637934 G C 201 nt VT=SNV;PN=A;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.6482,C/0.3518;Gene=PRAMEF11/NM_001146344.2/1;CC=c.292+150C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:131:129:0:0:66,65:2087,2162:200.65,0.00:197.18,0.00:3.48,0.00:1.00,0.00:1.00,0.00:0.79,0.00:54,55:47.0,12.6:0,0:0,0:49,35:102,116:34,24:NM_001146344.1(PRAMEF11) c.167+150C>G,-:0.36,-:NOT_FOUND,- 1 12888389 rs1830486 A C 948 lc VT=SNV;PN=C;NN=A;SST=Single;DP=337;DB;DBA=NA;PAF=C/0.3474,A/0.6526,T/.;NP=2623;Gene=PRAMEF11/NM_001146344.2/1;CC=c.260T>G;ProtCh=p.L87W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:337:228:0:0:55,280,1,1:1675,8789,9,11:0.00,947.53,-0.05,-0.03:0.00,618.18,-0.03,-0.01:0.00,329.36,-0.02,-0.02:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,40,22,40:77.8,39.6,100.0,59.0:0,0,0,0:0,0,0,0:62,65,35,41:88,86,116,110:37,36,0,0:-,NM_001146344.1(PRAMEF11) c.135T>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12888397 rs202156326 C T 58 lc VT=SNV;PN=T;NN=G;SST=Single;DP=356;DB;DBA=NA;PAF=C/0.9874,T/0.01258;PC=0.004;Gene=PRAMEF11/NM_001146344.2/1;CC=c.252G>A;ProtCh=p.S84=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:356:246:0:0:326,30:10194,877:0.00,57.77:0.00,53.62:0.00,4.15:0.00,1.00:0.00,1.00:0.00,1.00:40,40:35.6,134.3:0,0:0,0:62,65:87,85:35,35:-,NM_001146344.1(PRAMEF11) c.127G>A (p.Asp43Asn):-,NOT_FOUND:-,NOT_FOUND 1 12888476 rs375888976 C T 83 sb,lc VT=SNV;PN=G;NN=A;SST=Single;DP=503;DB;DBA=NA;PAF=NA;NP=1665;PC=0.591;Gene=PRAMEF11/NM_001146344.2/1;CC=c.173G>A;ProtCh=p.C58Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:503:382:0:0:462,41:15580,1246:0.00,82.64:0.00,83.97:0.00,-1.33:0.00,1.00:0.00,1.00:0.00,1.00:60,40:16.3,114.8:0,0:0,0:58,73:89,76:35,24:-,NM_001146344.1(PRAMEF11) c.48G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12888524 . G . . NT END=12907260;NT GT ./. 1 12888595 rs76039145 G C 106 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=515;DB;DBA=NA;PAF=NA;NP=202;PC=0.089;Gene=PRAMEF11/NM_001146344.2/1;CC=c.54C>G;ProtCh=p.A18=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:515:285:0:0:50,464,1:1528,14971,11:106.01,0.00,-0.37:114.84,0.00,-0.14:-8.83,0.00,-0.23:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:58,60,56:152.4,7.8,11.0:0,1,0:0,0,0:28,98,137:120,53,14:13,31,0:NM_001146344.1(PRAMEF11) c.-72C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12888601 rs5772510 G GC 1551 nt VT=INS;SST=Single;DP=510;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3374;Gene=PRAMEF11/NM_001146344.2/1;CC=c.47dupG;ProtCh=p.G17Rfs*463;VC=FrameShiftIns;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T,GC:510:284:474:0:5,30,1,474:131,806,10,13783:5.85,0.00,-0.00,1550.78:4.89,0.00,-0.01,623.53:0.96,0.00,0.01,927.26:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:95.6,44.4,29.0,23.4:0,6,1,0:0,0,0,0:0,145,114,74:151,4,37,75:0,2,0,35:NM_001146344.1(PRAMEF11) c.-79dupG,NM_001146344.1(PRAMEF11) c.-79dupG:1,1:NOT_FOUND,NOT_FOUND 1 12888607 rs370474145 A C 192 nt VT=SNV;PN=C;NN=A;SST=Single;DP=522;DB;DBA=NA;PAF=NA;NP=140;Gene=PRAMEF11/NM_001146344.2/1;CC=c.42T>G;ProtCh=p.L14=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:522:286:0:0:440,81,1:13829,2509,21:0.00,191.95,-0.14:0.00,181.75,-0.13:0.00,10.19,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.6,135.9,115.0:6,1,0:0,0,0:96,17,113:53,133,34:34,15,0:-,NM_001146344.1(PRAMEF11) c.-84T>G:-,NOT_FOUND:-,NOT_FOUND 1 12888629 rs76312011 A G 362 nt VT=SNV;PN=A;NN=T;SST=Single;DP=503;DB;DBA=NA;PAF=A/0.9966,G/0.003395;NP=38;Gene=PRAMEF11/NM_001146344.2/1;CC=c.20T>C;ProtCh=p.I7T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:503:253:0:0:367,2,133,1:11599,20,4247,10:0.00,-0.55,362.43,-0.30:0.00,-0.18,268.17,-0.09:0.00,-0.37,94.26,-0.21:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,59,60,20:7.3,96.5,117.4,114.0:0,0,0,0:0,0,0,0:99,113,28,31:48,34,121,119:31,7,12,0:-,NM_001146344.1(PRAMEF11) c.-106T>C:-,NOT_FOUND:-,NOT_FOUND 1 12888706 rs61777005 C A 635 nt VT=SNV;PN=G;NN=C;SST=Single;DP=375;DB;DBA=NA;PAF=NA;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-42G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:375:137:0:0:208,167:6478,5217:634.96,0.00:193.01,0.00:441.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:103.3,9.9:0,0:0,0:83,117:66,34:25,24:NM_001146344.1(PRAMEF11) c.-141-42G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12888752 rs61777006 C T 486 nt VT=SNV;PN=T;NN=T;SST=Single;DP=303;DB;DBA=NA;PAF=NA;PC=0.003;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-88G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:303:54:0:0:143,1,159:4604,9,5006:0.00,-0.16,485.70:0.00,-0.02,65.02:0.00,-0.15,420.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,24,60:37.5,110.0,106.0:0,0,0:0,0,0:97,85,96:53,65,54:32,0,27:-,NM_001146344.1(PRAMEF11) c.-141-88G>A:-,NOT_FOUND:-,NOT_FOUND 1 12888791 rs368462743 A G 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=212;DB;DBA=NA;PAF=NA;NP=173;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:A,G,T:212:5:0:0:190,19,3:5237,640,30:0.00,45.50,-0.75:0.00,-0.12,-0.02:0.00,45.62,-0.74:0.00,1.00,0.00:0.00,0.37,0.00:0.00,1.00,0.00:60,53,60:80.0,74.8,162.7:0,0,0:0,0,0:110,114,124:40,37,25:21,22,8:-,NM_001146344.1(PRAMEF11) c.-141-127T>C:-,NOT_FOUND:-,NOT_FOUND 1 12888795 rs61777007 T A 332 nt VT=SNV;PN=C;NN=G;SST=Single;DP=202;DB;DBA=NA;PAF=NA;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-131A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:202:5:0:0:109,93:3403,2984:331.59,0.00:5.06,0.00:326.53,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:114.1,44.1:0,0:0,0:118,107:30,43:16,28:NM_001146344.1(PRAMEF11) c.-141-131A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12888840 rs2982099 C G 342 nt VT=SNV;PN=A;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.2165,C/0.7835;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-176G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:91:0:0:0:91:2986:341.79:0.00:341.79:1.00:0.00:1.00:60:97.1:0:0:122:28:16:NM_001146344.1(PRAMEF11) c.-141-176G>C,NM_001146344.1(PRAMEF11) c.-141-176G>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 12888867 rs61777008 A G 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=7;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-203T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:0:0:0:33,19:1110,554:0.00,49.61:0.00,0.00:0.00,49.61:0.00,1.00:0.00,0.00:0.00,1.00:53,56:73.4,164.2:0,0:0,0:118,136:31,12:24,12:-,NM_001146344.1(PRAMEF11) c.-141-203T>C:-,NOT_FOUND:-,NOT_FOUND 1 12888878 rs61777009 C A 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-214G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:38:0:0:0:10,28:290,930:24.26,0.00:0.00,0.00:24.26,0.00:1.00,0.00:0.00,0.00:1.00,0.00:51,49:197.2,74.5:0,0:0,0:126,106:24,44:21,31:NM_001146344.1(PRAMEF11) c.-141-214G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12888881 rs2982098 T G 89 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.487,T/0.513;NP=216;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-217A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:0:0:0:26,10:855,290:88.68,0.00:0.00,0.00:88.68,0.00:1.00,0.00:0.00,0.00:1.00,0.00:49,50:76.1,167.9:0,0:0,0:110,99:40,50:31,48:NM_001146344.1(PRAMEF11) c.-141-217A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12888943 rs75890483 T C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.9926,C/0.007388;NP=3;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-279A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,T:19:0:0:0:5,14:133,455:10.92,0.00:0.00,0.00:10.92,0.00:0.86,0.00:0.00,0.00:0.86,0.00:56,56:193.6,62.4:0,0:0,0:81,97:69,53:28,39:NM_001146344.1(PRAMEF11) c.-141-279A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12888944 rs76374606 G A 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=2;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-280C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:19:0:0:0:4,15:132,489:10.86,0.00:0.00,0.00:10.86,0.00:0.72,0.00:0.00,0.00:0.72,0.00:40,56:229.0,61.7:0,0:0,0:96,91:54,60:15,40:NM_001146344.1(PRAMEF11) c.-141-280C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12888954 rs77085887 T G 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-290A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:G,T:16:0:0:0:3,13:104,382:8.48,0.00:0.00,0.00:8.48,0.00:0.54,0.00:0.00,0.00:0.54,0.00:40,56:237.3,71.1:0,0:0,0:92,86:58,65:3,30:NM_001146344.1(PRAMEF11) c.-141-290A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12888972 rs79369769 T C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=17;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-308A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:C,T:17:0:0:0:4,13:127,387:10.59,0.00:0.00,0.00:10.59,0.00:0.74,0.00:0.00,0.00:0.74,0.00:40,56:229.0,52.5:0,0:0,0:124,79:26,71:15,40:NM_001146344.1(PRAMEF11) c.-141-308A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12888981 rs79466248 T C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=23;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-317A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:17:0:0:0:4,13:125,403:10.38,0.00:0.00,0.00:10.38,0.00:0.74,0.00:0.00,0.00:0.74,0.00:40,56:229.0,52.5:0,0:0,0:133,88:17,62:15,40:NM_001146344.1(PRAMEF11) c.-141-317A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12889003 rs4846157 A T 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3554,A/0.6446;Gene=PRAMEF11/NM_001146344.2/1;CC=c.-16-339T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,T:13:0:0:0:2,11:69,366:0.00,39.42:0.00,0.00:0.00,39.42:0.00,1.00:0.00,0.00:0.00,1.00:40,56:221.5,49.7:0,0:0,0:139,110:11,40:1,35:-,NM_001146344.1(PRAMEF11) c.-141-339T>A:-,NOT_FOUND:-,NOT_FOUND 1 12898298 rs60470202 C CA 14 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,CA,D:16:19:6:4:9,5,2:303,191,129:0.00,14.09,5.26:0.00,14.09,5.26:0.00,0.00,0.00:0.00,0.86,0.00:0.00,0.86,0.00:0.00,0.00,0.00:60,60,60:66.9,88.8,42.5:0,1,2:0,0,0:47,47,53:103,103,97:47,23,6:-,NM_001146344.1(PRAMEF11) c.-196-u7035_-196-u7034insT:-,NOT_FOUND:-,NOT_FOUND 1 12898378 rs57957396 C G 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.8125,C/0.1875 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:62:53:0:0:34,28:1087,865:0.00,81.32:0.00,61.35:0.00,19.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:75.4,95.9:0,0:0,0:49,35:101,116:26,13:-,NM_001146344.1(PRAMEF11) c.-196-u7114G>C:-,0.21:-,NOT_FOUND 1 12898445 rs11121996 C A 362 nt VT=SNV;PN=T;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.2656,C/0.7344,G/.;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:101:77:0:0:101:3141:362.06:224.97:137.09:1.00:1.00:1.00:60:78.5:0:0:69:82:37:NM_001146344.1(PRAMEF11) c.-196-u7181G>T,NM_001146344.1(PRAMEF11) c.-196-u7181G>T:0.75,0.75:NOT_FOUND,NOT_FOUND 1 12898472 rs4301642 C T 459 nt VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=T/0.05252,C/0.9475 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:121:92:0:0:121:4012:458.75:287.79:170.96:1.00:1.00:1.00:60:72.1:0:0:66:84:44:NM_001146344.1(PRAMEF11) c.-196-u7208G>A,NM_001146344.1(PRAMEF11) c.-196-u7208G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 12898654 rs55954336 A G 157 nt VT=SNV;PN=A;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.5467,A/0.4533 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:125:63:0:0:73,52:2192,1691:0.00,157.03:0.00,63.11:0.00,93.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.1,70.6:0,0:0,0:65,85:84,65:34,34:-,NM_001146344.1(PRAMEF11) c.-196-u7390T>C:-,0.45:-,NOT_FOUND 1 12898673 rs4453052 G T 377 nt VT=SNV;PN=T;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.1785,G/0.8215 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:109:55:0:0:3,106:89,3326:0.00,376.97:0.00,159.32:0.00,217.65:0.00,1.00:0.00,1.00:0.00,1.00:24,60:11.7,56.6:0,0:0,0:48,78:103,72:7,29:NM_001146344.1(PRAMEF11) c.-196-u7409C>A,NM_001146344.1(PRAMEF11) c.-196-u7409C>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 12898783 rs3116722 G A 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.8049,A/0.1951 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:65:21:0:0:21,43,1:661,1377,12:58.55,0.00,-0.06:6.42,0.00,-0.08:52.13,0.00,0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,52,40:57.8,44.1,240.0:0,0,0:0,0,0:109,94,24:42,56,127:25,29,0:chr1 g.12898782G>A (intergenic),-:0.17,-:NOT_FOUND,- 1 12898810 rs61775388 T C 119 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.6336,C/0.3664;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:60:14:0:0:1,39,20:26,1165,610:1.18,118.61,0.00:-0.01,27.72,0.00:1.19,90.89,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,52,40:87.0,50.5,35.4:0,0,0:0,0,0:34,110,102:117,37,48:0,22,30:chr1 g.12898809T>C (intergenic),-:0.33,-:NOT_FOUND,- 1 12898953 rs11121997 G A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6326,G/0.3674;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,G:17:0:0:0:4,13:137,393:11.58,0.00:0.00,0.00:11.58,0.00:0.74,0.00:0.00,0.00:0.74,0.00:51,40:93.2,44.4:0,0:0,0:34,111:115,40:13,26:chr1 g.12898952G>A (intergenic),-:0.37,-:NOT_FOUND,- 1 12899009 rs11121998 C T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9513,T/0.04872 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,T:7:0:0:0:4,3:118,104:0.00,9.76:0.00,0.00:0.00,9.76:0.00,0.69:0.00,0.00:0.00,0.69:51,40:93.2,75.0:0,0:0,0:90,107:59,44:13,27:-,chr1 g.12899008C>T (intergenic):-,0.04:-,NOT_FOUND 1 12899010 rs10864590 A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7246,A/0.2754 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:228:26.14:0.00:26.14:1.00:0.00:1.00:51:85.4:0:0:94:57:18:chr1 g.12899009A>G (intergenic),chr1 g.12899009A>G (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 1 12899057 rs9660384 C T 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4964,C/0.5036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:51:98.2:0:0:129:20:9:chr1 g.12899056C>T (intergenic),chr1 g.12899056C>T (intergenic):0.5,0.5:NOT_FOUND,NOT_FOUND 1 12900997 rs5007448 G T 75 nt VT=SNV;PN=G;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.4984,G/0.5016;NP=2421 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:73:53:0:0:1,45,27:11,1450,832:-0.11,0.00,75.39:-0.16,0.00,35.75:0.05,0.00,39.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,60:68.0,5.9,35.9:0,0,0:0,0,0:95,74,52:56,73,98:0,31,28:-,chr1 g.12900996G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12907122 rs5027833 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=27;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:44:44:0:0:38,6:1158,188:0.00,14.06:0.00,14.09:0.00,-0.03:0.00,0.86:0.00,0.86:0.00,0.42:60,27:10.6,211.5:0,0:0,0:44,17:106,134:31,8:-,chr1 g.12907121C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12907123 . A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;PC=0.990 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,G:44:44:0:0:37,7:1184,227:0.00,17.67:0.00,17.71:0.00,-0.04:0.00,0.93:0.00,0.93:0.00,0.44:60,39:10.1,205.9:0,0:0,0:44,13:106,138:30,10:-,chr1 g.12907122A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12907136 rs5027835 A G 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=84;PC=0.968 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:55:0:0:43,12:1358,391:0.00,32.30:0.00,32.46:0.00,-0.16:0.00,1.00:0.00,1.00:0.00,0.56:60,40:8.7,177.8:0,0:0,0:42,16:109,134:31,11:-,chr1 g.12907135A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12907169 rs5027836 A G 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=119;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:86:84:0:0:57,29:1822,974:0.00,87.36:0.00,83.12:0.00,4.24:0.00,1.00:0.00,1.00:0.00,0.96:60,44:8.4,175.2:0,0:0,0:52,30:97,113:24,13:-,chr1 g.12907168A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12907199 rs5027837 T A 184 nt VT=SNV;PN=G;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=NA;NP=1284;PC=0.919 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:149:138:0:0:62,87:1980,2717:183.62,0.00:157.15,0.00:26.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:189.3,7.8:1,0:0,0:22,30:125,121:16,22:chr1 g.12907198T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 12907212 rs5027838 T A 230 nt VT=SNV;PN=C;NN=C;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=1711;PC=0.889 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:174:158:0:0:73,1,100:2460,8,3169:229.73,-0.22,0.00:183.53,-0.17,0.00:46.20,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,60:187.4,206.0,9.7:0,0,0:0,0,0:32,63,39:115,88,110:19,0,26:chr1 g.12907211T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 12907282 rs139731855 G C 329 lc VT=SNV;PN=T;NN=G;SST=Single;DP=283;DB;DBA=NA;PAF=NA;NP=518;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.861C>G;ProtCh=p.T287=;VC=Silent;Gene=HNRNPCL3/NM_001146181/0;CC=c.861C>G;ProtCh=p.T287=;VC=Silent;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.861C>G;ProtCh=p.T287=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:283:234:0:0:2,110,171:21,3586,5573:-0.36,329.34,0.00:-0.29,216.06,0.00:-0.07,113.28,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,60,60:118.5,206.7,10.1:0,0,0:0,0,0:88,78,66:62,68,82:19,21,32:NM_001013631.1(HNRNPCL1) c.861C>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 12907284 rs149796618 T C 336 lc VT=SNV;PN=G;NN=G;SST=Single;DP=288;DB;DBA=NA;PAF=NA;NP=795;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.859A>G;ProtCh=p.T287A;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.859A>G;ProtCh=p.T287A;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.859A>G;ProtCh=p.T287A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:288:237:0:0:112,176:3662,5604:335.98,0.00:212.89,0.00:123.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:207.1,11.2:0,0:0,0:77,56:66,88:21,33:NM_001013631.1(HNRNPCL1) c.859A>G (p.Thr287Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 12907285 rs148930640 G C 305 lc VT=SNV;PN=T;NN=C;SST=Single;DP=284;DB;DBA=NA;PAF=NA;NP=315;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.858C>G;ProtCh=p.S286R;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.858C>G;ProtCh=p.S286R;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.858C>G;ProtCh=p.S286R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:284:232:0:0:108,175,1:3347,5774,12:304.52,0.00,-0.23:190.12,0.00,-0.14:114.41,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,27:208.2,10.8,63.0:0,0,0:0,0,0:75,67,148:65,81,3:22,33,0:NM_001013631.1(HNRNPCL1) c.858C>G (p.Ser286Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 12907316 rs112607517 T C 273 lc VT=SNV;PN=C;NN=C;SST=Single;DP=293;DB;DBA=NA;PAF=NA;NP=312;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.827A>G;ProtCh=p.E276G;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.827A>G;ProtCh=p.E276G;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.827A>G;ProtCh=p.E276G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:293:224:0:0:98,195:3073,6415:272.95,0.00:158.53,0.00:114.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:209.9,11.5:0,0:0,0:104,82:41,66:19,34:NM_001013631.1(HNRNPCL1) c.827A>G (p.Glu276Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 12907350 rs2359486 C T 149 lc VT=SNV;PN=T;NN=A;SST=Single;DP=260;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.793G>A;ProtCh=p.D265N;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.793G>A;ProtCh=p.D265N;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.793G>A;ProtCh=p.D265N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:260:184:0:0:202,58:6598,1817:0.00,149.50:0.00,53.13:0.00,96.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,221.9:0,0:0,0:67,120:82,23:38,10:-,NM_001013631.1(HNRNPCL1) c.793G>A (p.Asp265Asn):-,NOT_FOUND:-,NOT_FOUND 1 12907351 rs2359485 A G 136 lc VT=SNV;PN=C;NN=T;SST=Single;DP=259;DB;DBA=NA;PAF=NA;NP=433;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.792T>C;ProtCh=p.D264=;VC=Silent;Gene=HNRNPCL3/NM_001146181/0;CC=c.792T>C;ProtCh=p.D264=;VC=Silent;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.792T>C;ProtCh=p.D264=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:259:185:0:0:202,56,1:6308,1678,8:0.00,136.01,-0.33:0.00,46.29,-0.19:0.00,89.71,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,40:13.4,227.6,226.0:0,0,0:0,0,0:74,122,83:77,22,48:41,9,0:-,NM_001013631.1(HNRNPCL1) c.792T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12907370 rs2076063 A T 70 lc VT=SNV;PN=A;NN=C;SST=Single;DP=248;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.773T>A;ProtCh=p.V258D;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.773T>A;ProtCh=p.V258D;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.773T>A;ProtCh=p.V258D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:248:175:0:0:210,2,1,35:6421,23,12,962:0.00,-0.50,-0.30,69.58:0.00,-0.20,-0.15,24.89:0.00,-0.30,-0.15,44.69:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,19,60:13.4,18.0,222.0,239.1:0,0,0,0:0,0,0,0:63,102,132,136:83,49,9,9:36,38,0,9:-,NM_001013631.1(HNRNPCL1) c.773T>A (p.Val258Asp):-,NOT_FOUND:-,NOT_FOUND 1 12907612 rs2994091 A T 46 lc VT=SNV;PN=C;NN=C;SST=Single;DP=260;DB;DBA=NA;PAF=NA;NP=2;PC=0.877;Gene=HNRNPCL4/NM_001302551/0;CC=c.531T>A;ProtCh=p.G177=;VC=Silent;Gene=HNRNPCL3/NM_001146181/0;CC=c.531T>A;ProtCh=p.G177=;VC=Silent;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.531T>A;ProtCh=p.G177=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,T:260:167:0:0:238,22:7307,677:0.00,45.79:0.00,22.32:0.00,23.47:0.00,1.00:0.00,1.00:0.00,1.00:60,40:10.8,93.8:0,0:0,0:75,82:73,69:32,19:-,NM_001013631.1(HNRNPCL1) c.531T>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12907620 rs2994092 A G 50 lc VT=SNV;PN=A;NN=C;SST=Single;DP=261;DB;DBA=NA;PAF=NA;NP=1;PC=0.997;Gene=HNRNPCL4/NM_001302551/0;CC=c.523T>C;ProtCh=p.L175=;VC=Silent;Gene=HNRNPCL3/NM_001146181/0;CC=c.523T>C;ProtCh=p.L175=;VC=Silent;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.523T>C;ProtCh=p.L175=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,C,G:261:164:0:0:236,2,23:7200,23,727:0.00,-0.59,50.26:0.00,-0.17,22.47:0.00,-0.42,27.79:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,40:9.4,60.5,95.8:0,0,0:0,0,0:74,130,89:74,21,62:35,9,19:-,NM_001013631.1(HNRNPCL1) c.523T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12907777 rs28391533 T C 407 lc VT=SNV;PN=T;NN=C;SST=Single;DP=361;DB;DBA=NA;PAF=NA;NP=425;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.366A>G;ProtCh=p.G122=;VC=Silent;Gene=HNRNPCL3/NM_001146181/0;CC=c.366A>G;ProtCh=p.G122=;VC=Silent;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.366A>G;ProtCh=p.G122=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:361:273:0:0:135,1,225:4464,10,6920:407.48,-0.26,0.00:378.78,-0.16,0.00:28.70,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:56,27,60:210.1,108.0,18.0:0,0,0:0,0,0:28,42,74:121,109,74:18,0,36:NM_001013631.1(HNRNPCL1) c.366A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 12907781 rs28441396 T C 446 lc VT=SNV;PN=A;NN=C;SST=Single;DP=378;DB;DBA=NA;PAF=NA;NP=28;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.362A>G;ProtCh=p.D121G;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.362A>G;ProtCh=p.D121G;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.362A>G;ProtCh=p.D121G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:378:291:0:0:2,150,1,225:31,4837,10,6979:0.08,445.69,-0.26,0.00:0.26,403.58,-0.13,0.00:-0.18,42.11,-0.13,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,60,52,60:161.0,205.3,113.0,18.6:0,0,0,0:0,0,0,0:31,30,71,72:119,119,71,78:26,20,0,37:NM_001013631.1(HNRNPCL1) c.362A>G (p.Asp121Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 12907798 rs150096254 A C 600 lc VT=SNV;PN=G;NN=A;SST=Single;DP=425;DB;DBA=NA;PAF=NA;PC=0.995;Gene=HNRNPCL4/NM_001302551/0;CC=c.345T>G;ProtCh=p.F115L;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.345T>G;ProtCh=p.F115L;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.345T>G;ProtCh=p.F115L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:425:334:0:0:234,188,1,2:7193,6363,11,18:0.00,600.16,-0.17,-0.42:0.00,519.16,-0.09,-0.22:0.00,80.99,-0.09,-0.20:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,57,56:23.1,192.0,126.0,69.5:0,0,0,0:0,0,0,0:69,37,5,34:79,113,145,116:36,19,0,29:-,NM_001013631.1(HNRNPCL1) c.345T>G (p.Phe115Leu):-,NOT_FOUND:-,NOT_FOUND 1 12907800 rs201112865 A G 121 lc VT=SNV;PN=A;NN=G;SST=Single;DP=425;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.343T>C;ProtCh=p.F115L;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.343T>C;ProtCh=p.F115L;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.343T>C;ProtCh=p.F115L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:425:333:0:0:375,50:12103,1640:0.00,121.15:0.00,106.69:0.00,14.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:82.5,220.5:0,0:0,0:44,49:103,101:27,23:-,NM_001013631.1(HNRNPCL1) c.343T>C (p.Phe115Leu):-,NOT_FOUND:-,NOT_FOUND 1 12907802 rs138087690 C T 529 lc VT=SNV;PN=G;NN=C;SST=Single;DP=428;DB;DBA=NA;PAF=NA;PC=0.998;Gene=HNRNPCL4/NM_001302551/0;CC=c.341G>A;ProtCh=p.G114D;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.341G>A;ProtCh=p.G114D;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.341G>A;ProtCh=p.G114D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:428:336:0:0:239,189:7868,5664:0.00,528.74:0.00,450.90:0.00,77.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.9,190.0:0,0:0,0:71,40:78,110:38,18:-,NM_001013631.1(HNRNPCL1) c.341G>A (p.Gly114Asp):-,NOT_FOUND:-,NOT_FOUND 1 12907803 rs141460546 C T 550 lc VT=SNV;PN=C;NN=A;SST=Single;DP=437;DB;DBA=NA;PAF=NA;NP=2;PC=1.000;Gene=HNRNPCL4/NM_001302551/0;CC=c.340G>A;ProtCh=p.G114S;VC=Missense;Gene=HNRNPCL3/NM_001146181/0;CC=c.340G>A;ProtCh=p.G114S;VC=Missense;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.340G>A;ProtCh=p.G114S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:437:342:0:0:2,243,1,191:20,7881,5,5887:-0.42,0.00,-0.21,550.29:-0.23,0.00,-0.11,468.79:-0.19,0.00,-0.09,81.51:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,52,60:157.5,25.2,113.0,188.3:0,0,0,0:0,0,0,0:51,62,93,40:99,85,49,109:19,39,0,18:-,NM_001013631.1(HNRNPCL1) c.340G>A (p.Gly114Ser):-,NOT_FOUND:-,NOT_FOUND 1 12907837 rs1736811 C T 1043 lc VT=SNV;PN=C;NN=G;SST=Single;DP=587;DB;DBA=NA;PAF=C/0.9926,T/0.007388;PC=0.875;Gene=HNRNPCL4/NM_001302551/0;CC=c.306G>A;ProtCh=p.A102=;VC=Silent;Gene=HNRNPCL3/NM_001146181/0;CC=c.306G>A;ProtCh=p.A102=;VC=Silent;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.306G>A;ProtCh=p.A102=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:587:473:0:0:1,272,314:13,8462,10694:-0.19,0.00,1043.48:-0.13,0.00,797.27:-0.06,0.00,246.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,60,60:70.0,29.8,128.3:0,0,0:0,0,0:22,63,53:128,83,94:0,37,25:-,NM_001013631.1(HNRNPCL1) c.306G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 12907885 rs848418 T C 757 lc VT=SNV;PN=C;NN=G;SST=Single;DP=674;DB;DBA=NA;PAF=C/0.08606,T/0.9139;PC=0.218;Gene=HNRNPCL4/NM_001302551/0;CC=c.258A>G;ProtCh=p.A86=;VC=Silent;Gene=HNRNPCL3/NM_001146181/0;CC=c.258A>G;ProtCh=p.A86=;VC=Silent;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.258A>G;ProtCh=p.A86=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:674:523:0:0:1,271,402:13,8252,13621:-0.15,757.24,0.00:-0.11,378.68,0.00:-0.04,378.57,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:13,60,60:174.0,37.6,84.7:0,0,0:0,0,0:12,79,78:139,68,64:0,30,31:NM_001013631.1(HNRNPCL1) c.258A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 12907895 . TTAA T 159 lc VT=DEL;SST=Single;DP=681;NP=12;PC=0.478;Gene=HNRNPCL4/NM_001302551/0;CC=c.245_247delTTA;ProtCh=p.I82del;VC=InFrameDel;Gene=HNRNPCL3/NM_001146181/0;CC=c.245_247delTTA;ProtCh=p.I82del;VC=InFrameDel;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.245_247delTTA;ProtCh=p.I82del;VC=InFrameDel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,TTAA,T:681:523:0:72:1,1,1,607,71:10,25,23,18787,2237:-0.25,0.03,-0.06,0.00,159.03:-0.14,0.14,0.05,0.00,104.62:-0.11,-0.11,-0.11,0.00,54.41:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:58,56,16,60,60:71.0,70.0,89.0,50.7,62.4:0,0,0,0,0:0,0,0,0,0:96,73,72,71,79:48,77,79,73,70:0,0,0,32,32:-,NM_001013631.1(HNRNPCL1) c.245_247delTTA (p.Ile82_Asn83delinsAsn):-,NOT_FOUND:-,NOT_FOUND 1 12908143 . T . . NT END=12918864;NT GT ./. 1 12908236 rs1736809 G T 301 nt VT=SNV;PN=G;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=NA;PC=0.003;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-94C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:149:37:0:0:55,94:1695,2990:0.00,301.11:0.00,35.55:0.00,265.55:0.00,1.00:0.00,1.00:0.00,1.00:60,58:20.1,83.0:0,0:0,0:112,96:37,55:19,37:-,NM_001013631.1(HNRNPCL1) c.-94C>A:-,NOT_FOUND:-,NOT_FOUND 1 12908243 rs1736808 A G 298 nt VT=SNV;PN=A;NN=C;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=2346;PC=0.002;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-101T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:145:30:0:0:53,2,89,1:1585,21,2961,10:0.00,-0.02,297.79,-0.09:0.00,-0.07,29.23,-0.04:0.00,0.05,268.56,-0.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,51,58,41:20.8,73.5,84.4,202.0:0,0,0,0:0,0,0,0:119,94,102,71:30,49,49,74:20,42,36,0:-,NM_001013631.1(HNRNPCL1) c.-101T>C:-,NOT_FOUND:-,NOT_FOUND 1 12908278 rs3860363 C A 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.4998,C/0.5002;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-136G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:96:4:0:0:24,71,1:742,2028,10:62.39,0.00,-0.21:1.34,0.00,-0.01:61.05,0.00,-0.20:1.00,0.00,0.00:0.69,0.00,0.00:1.00,0.00,0.00:44,60,40:49.2,77.4,143.0:0,0,0:0,0,0:116,100,81:34,51,70:21,25,0:NM_001013631.1(HNRNPCL1) c.-136G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12908311 rs6657053 C G 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.9876,G/0.01238;NP=8;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-169G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:72:0:0:0:1,57,13,1:10,1574,416,10:-0.21,0.00,33.26,-0.21:0.00,0.00,0.00,0.00:-0.21,0.00,33.26,-0.21:0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00:40,60,44,40:140.0,77.2,74.7,143.0:0,0,0,0:0,0,0,0:136,113,88,114:15,38,63,37:0,22,33,0:-,NM_001013631.1(HNRNPCL1) c.-169G>C:-,NOT_FOUND:-,NOT_FOUND 1 12908333 rs61775391 T C 103 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=1362;PC=0.010;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-181-10A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:0:0:0:39,15:985,500:102.69,0.00:0.00,0.00:102.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:59,60:100.5,39.7:0,0:0,0:110,100:39,49:32,22:NM_001013631.1(HNRNPCL1) c.-181-10A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12908349 rs142028100 A AT 55 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=650;PC=0.001;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-181-27_-181-26insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:41:0:22:1:18,22,1:529,570,20:0.00,55.38,0.72:0.00,0.00,0.00:0.00,55.38,0.72:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,59,54:51.7,94.3,106.0:1,0,1:0,0,0:116,99,128:34,50,23:26,35,0:-,NM_001013631.1(HNRNPCL1) c.-181-27_-181-26insA:-,NOT_FOUND:-,NOT_FOUND 1 12908375 rs61775392 T C 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=77;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-181-52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:0:0:0:17,11:535,364:53.44,0.00:0.00,0.00:53.44,0.00:1.00,0.00:0.00,0.00:1.00,0.00:59,60:102.9,36.4:0,0:0,0:86,109:56,42:21,33:NM_001013631.1(HNRNPCL1) c.-181-52A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12908384 rs143606605 G GA 31 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=5;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-181-62dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:24:0:13:0:11,13:352,325:0.00,31.32:0.00,0.00:0.00,31.32:0.00,1.00:0.00,0.00:0.00,1.00:60,55:42.5,106.8:0,0:0,0:118,89:33,59:31,15:-,NM_001013631.1(HNRNPCL1) c.-181-62_-181-61insT:-,NOT_FOUND:-,NOT_FOUND 1 12908424 rs140786286 G GA 24 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-181-102dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:18:0:10:0:8,10:278,245:0.00,23.74:0.00,0.00:0.00,23.74:0.00,1.00:0.00,0.00:0.00,1.00:60,55:30.4,135.8:0,0:0,0:110,115:41,23:30,13:-,NM_001013631.1(HNRNPCL1) c.-181-102_-181-101insT:-,NOT_FOUND:-,NOT_FOUND 1 12908444 rs79992585 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-182+90A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:C,T:10:0:0:0:5,5:152,161:14.57,0.00:0.00,0.00:14.57,0.00:0.95,0.00:0.00,0.00:0.95,0.00:55,60:211.2,0.0:0,0:0,0:130,108:21,43:18,15:NM_001013631.1(HNRNPCL1) c.-182+90A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12908449 rs79286318 T C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.059;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-182+85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:C,T:9:0:0:0:4,5:115,172:10.70,0.00:0.00,0.00:10.70,0.00:0.85,0.00:0.00,0.00:0.85,0.00:55,60:234.5,0.0:0,0:0,0:115,113:28,38:21,15:NM_001013631.1(HNRNPCL1) c.-182+85A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12908450 . G T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;PC=0.067;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-182+84C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:G,T:9:0:0:0:5,4:176,128:0.00,12.02:0.00,0.00:0.00,12.02:0.00,0.85:0.00,0.00:0.00,0.85:60,55:0.0,234.5:0,0:0,0:114,116:37,27:15,21:-,NM_001013631.1(HNRNPCL1) c.-182+84C>A:-,NOT_FOUND:-,NOT_FOUND 1 12908452 rs78763332 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.024;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-182+82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,T:9:0:0:0:5,4:159,138:0.00,13.02:0.00,0.00:0.00,13.02:0.00,0.85:0.00,0.00:0.00,0.85:60,55:0.0,234.5:0,0:0,0:116,118:35,25:15,21:-,NM_001013631.1(HNRNPCL1) c.-182+82G>A:-,NOT_FOUND:-,NOT_FOUND 1 12908480 . G C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;PC=0.001;Gene=HNRNPCL1/NM_001013631.2/1;CC=c.-182+54C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:5:0:0:0:2,3:70,101:6.49,0.00:0.00,0.00:6.49,0.00:0.46,0.00:0.00,0.00:0.46,0.00:55,60:284.0,0.0:0,0:0,0:108,140:35,11:18,4:NM_001013631.1(HNRNPCL1) c.-182+54C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12919152 . G . . NT END=12919547;NT GT ./. 1 12919272 rs75617687 C A 14 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=5;Gene=PRAMEF2/NM_023014.1/1;CC=c.287+121C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,C,T:79:9:0:0:8,69,2:217,2223,19:14.48,0.00,-0.33:2.46,0.00,-0.08:12.01,0.00,-0.26:0.93,0.00,0.00:0.56,0.00,0.00:1.00,0.00,0.00:52,60,60:105.2,13.0,119.5:0,0,0:0,0,0:6,98,30:145,52,120:2,38,20:NM_023014.1(PRAMEF2) c.287+121C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12919350 rs61775399 A G 110 nt VT=SNV;PN=A;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=NA;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-198A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:117:58:0:0:76,1,39,1:2227,9,1231,9:0.00,-0.23,109.74,-0.23:0.00,-0.15,57.90,-0.07:0.00,-0.08,51.84,-0.15:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,27,60,57:75.9,132.0,47.8,165.0:0,0,0,0:0,0,0,0:57,80,52,76:93,58,92,32:27,0,37,0:-,NM_023014.1(PRAMEF2) c.288-198A>G:-,0.18:-,NOT_FOUND 1 12919353 rs2179186 G T 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=1205;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-195G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:117:60:0:0:1,76,40:32,2200,1307:1.34,0.00,117.39:1.48,0.00,47.80:-0.13,0.00,69.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:51,60,60:154.0,28.0,139.8:0,0,0:0,0,0:10,62,56:140,88,92:0,36,23:-,NM_023014.1(PRAMEF2) c.288-195G>T:-,NOT_FOUND:-,NOT_FOUND 1 12919360 rs111283876 A T 123 nt VT=SNV;PN=T;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=1265;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-188A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:126:69:0:0:80,46:2395,1372:0.00,123.18:0.00,61.33:0.00,61.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.3,141.3:0,0:0,0:61,59:89,91:36,28:-,NM_023014.1(PRAMEF2) c.288-188A>T:-,NOT_FOUND:-,NOT_FOUND 1 12919422 rs74056157 T C 194 nt VT=SNV;PN=T;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=T/0.4996,C/0.5004;NP=1864;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:171:138:0:0:64,1,106:2126,11,3020:194.38,-0.20,0.00:132.82,-0.16,0.00:61.56,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:173.5,220.0,13.8:0,0,0:0,0,0:67,76,62:83,65,89:27,0,39:NM_023014.1(PRAMEF2) c.288-126T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12919423 rs74056158 G A 189 nt VT=SNV;PN=T;NN=A;SST=Single;DP=170;DB;DBA=NA;PAF=G/0.4996,A/0.5004;NP=1683;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:170:138:0:0:64,106:2072,3451:188.82,0.00:131.87,0.00:56.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:172.2,15.3:0,0:0,0:68,63:82,88:27,39:NM_023014.1(PRAMEF2) c.288-125G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12919459 rs139219724 G T 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=NA;NP=136;PC=0.001;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-89G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:187:168:0:0:1,158,28:9,5239,833:-0.30,0.00,62.63:-0.26,0.00,49.05:-0.05,0.00,13.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:20.0,33.6,197.6:0,0,0:0,0,0:66,56,93:85,95,52:0,37,18:-,NM_023014.1(PRAMEF2) c.288-89G>T:-,NOT_FOUND:-,NOT_FOUND 1 12919482 rs76110183 G C 118 nt VT=SNV;PN=A;NN=A;SST=Single;DP=222;DB;DBA=NA;PAF=NA;NP=9;PC=0.001;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-66G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:222:206:0:0:43,179:1446,5877:117.76,0.00:91.01,0.00:26.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:192.7,12.3:0,0:0,0:112,46:39,103:16,30:NM_023014.1(PRAMEF2) c.288-66G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12919505 rs76317893 G T 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=256;DB;DBA=NA;PAF=NA;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-43G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:256:232:0:0:228,28:7581,795:0.00,54.89:0.00,33.07:0.00,21.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,213.6:0,0:0,0:42,119:106,32:28,9:-,NM_023014.1(PRAMEF2) c.288-43G>T:-,NOT_FOUND:-,NOT_FOUND 1 12919506 rs200021090 A T 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=257;DB;DBA=NA;PAF=NA;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-42A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:257:232:0:0:230,27:7427,782:0.00,53.85:0.00,31.47:0.00,22.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,216.3:0,0:0,0:41,116:108,34:26,12:-,NM_023014.1(PRAMEF2) c.288-42A>T:-,NOT_FOUND:-,NOT_FOUND 1 12919511 rs1856641 C T 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=266;DB;DBA=NA;PAF=C/0.9255,A/0.07448,T/.;NP=377;NP=68;Gene=PRAMEF2/NM_023014.1/1;CC=c.288-37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:266:237:0:0:239,1,26:7564,5,831:0.00,-0.41,58.69:0.00,-0.32,34.74:0.00,-0.08,23.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:8.5,65.0,217.6:0,0,0:0,0,0:41,98,125:108,53,26:23,0,8:-,NM_023014.1(PRAMEF2) c.288-37C>T:-,NOT_FOUND:-,NOT_FOUND 1 12920127 . G . . NT END=12921075;NT GT ./. 1 12920241 rs60887327 A G 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=77;Gene=PRAMEF2/NM_023014.1/1;CC=c.866+115A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:95:56:0:0:73,22:2257,680:0.00,56.19:0.00,52.74:0.00,3.45:0.00,1.00:0.00,1.00:0.00,1.00:60,36:8.7,42.3:0,0:0,0:74,34:77,116:37,16:-,NM_023014.1(PRAMEF2) c.866+115A>G:-,NOT_FOUND:-,NOT_FOUND 1 12920373 . C T 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=97;Gene=PRAMEF2/NM_023014.1/1;CC=c.866+247C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:97:54:0:0:77,20:2507,616:0.00,49.74:0.00,2.28:0.00,47.47:0.00,1.00:0.00,1.00:0.00,1.00:60,25:8.7,41.2:0,0:0,0:89,104:57,47:33,15:-,NM_023014.1(PRAMEF2) c.866+247C>T:-,NOT_FOUND:-,NOT_FOUND 1 12920828 rs55654376 C A 8 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=219;PC=0.002;Gene=PRAMEF2/NM_023014.1/1;CC=c.867-248C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:19:12:0:0:3,16:97,548:7.53,0.00:5.01,0.00:2.53,0.00:0.51,0.00:0.81,0.00:0.66,0.00:12,60:166.7,2.5:0,0:0,0:19,59:87,91:12,46:NM_023014.1(PRAMEF2) c.867-248C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12921332 rs17039307 T C 185 lc VT=SNV;PN=C;NN=G;SST=Single;DP=423;DB;DBA=NA;PAF=T/0.5901,C/0.4099;NP=2652;Gene=PRAMEF2/NM_023014.1/1;CC=c.1123T>C;ProtCh=p.C375R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:423:300:0:0:74,349:2350,11721:185.19,0.00:150.63,0.00:34.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:45.4,5.7:0,0:0,0:34,81:111,66:14,29:NM_023014.1(PRAMEF2) c.1123T>C (p.Cys375Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 12921539 rs142594496 T G 84 lc VT=SNV;PN=A;NN=T;SST=Single;DP=385;DB;DBA=NA;PAF=NA;Gene=PRAMEF2/NM_023014.1/1;CC=c.1330T>G;ProtCh=p.F444V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:385:239:0:0:1,40,344:10,1204,10731:-0.42,84.13,0.00:-0.21,54.65,0.00:-0.21,29.48,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,60:155.0,71.0,10.3:0,0,0:0,0,0:21,47,83:116,97,67:0,40,36:NM_023014.1(PRAMEF2) c.1330T>G (p.Phe444Val),-:0.24,-:0.053421,- 1 12921600 rs199504163 C T 179 lc VT=SNV;PN=C;NN=G;SST=Single;DP=406;DB;DBA=NA;PAF=NA;NP=286;PC=0.001;Gene=PRAMEF2/NM_023014.1/1;CC=c.1391C>T;ProtCh=p.P464L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:406:182:0:0:1,332,73:11,9885,2274:-0.26,0.00,179.45:-0.09,0.00,64.51:-0.17,0.00,114.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,60,43:11.0,17.2,102.1:0,0,0:0,0,0:53,85,26:98,61,125:0,35,11:-,NM_023014.1(PRAMEF2) c.1391C>T (p.Pro464Leu):-,NOT_FOUND:-,NOT_FOUND 1 12921635 . G . . NT END=12939364;NT GT ./. 1 12921635 rs144099057 G A 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=363;DB;DBA=NA;PAF=NA;NP=6;NP=890;Gene=PRAMEF2/NM_023014.1/1;CC=c.*1G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:363:126:0:0:43,1,317,2:1308,7,9802,20:94.41,-0.40,0.00,-0.70:5.16,-0.11,0.00,-0.17:89.26,-0.29,0.00,-0.52:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,3,43,40:55.2,105.0,33.9,98.5:0,0,0,0:0,0,0,0:61,47,74,69:90,104,75,81:24,0,30,28:NM_023014.1(PRAMEF2) c.*1G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12921642 rs2994093 G A 236 nt VT=SNV;PN=C;NN=T;SST=Single;DP=342;DB;DBA=NA;PAF=NA;NP=2070;Gene=PRAMEF2/NM_023014.1/1;CC=c.*8G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:342:118:0:0:89,2,251:2780,24,7892:235.64,-0.45,0.00:60.01,-0.06,0.00:175.63,-0.40,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,40,43:96.5,109.0,17.1:0,0,0:0,0,0:62,79,81:89,71,68:14,25,29:NM_023014.1(PRAMEF2) c.*8G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 12921716 rs2994094 A G 302 nt VT=SNV;PN=A;NN=C;SST=Single;DP=249;DB;DBA=NA;PAF=NA;NP=3186;PC=0.001;Gene=PRAMEF2/NM_023014.1/1;CC=c.*82A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:249:21:0:0:153,1,95:4579,13,3286:0.00,-0.18,302.30:0.00,0.07,10.89:0.00,-0.25,291.40:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,43,42:16.5,39.0,80.9:0,0,0:0,0,0:111,144,111:37,7,37:28,0,26:-,NM_023014.1(PRAMEF2) c.*82A>G:-,NOT_FOUND:-,NOT_FOUND 1 12921762 rs2473041 A C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=199;PC=0.019;Gene=PRAMEF2/NM_023014.1/1;CC=c.*128A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,C:125:0:0:0:114,11:3381,366:0.00,25.70:0.00,0.00:0.00,25.70:0.00,0.98:0.00,0.00:0.00,0.98:60,43:22.0,75.3:0,0:0,0:105,129:45,21:24,8:-,NM_023014.1(PRAMEF2) c.*128A>C:-,NOT_FOUND:-,NOT_FOUND 1 12921899 rs79898660 C G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=157;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,G:11:0:0:0:8,3:265,99:0.00,8.53:0.00,0.00:0.00,8.53:0.00,0.60:0.00,0.00:0.00,0.60:60,42:7.1,69.3:0,0:0,0:133,61:17,90:8,35:-,chr1 g.12921898C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12921916 rs74056162 A G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=185;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:8:0:0:0:5,3:150,99:0.00,9.04:0.00,0.00:0.00,9.04:0.00,0.67:0.00,0.00:0.00,0.67:60,42:43.0,69.3:0,0:0,0:133,78:17,73:11,35:-,chr1 g.12921915A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12939159 rs909650 C T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PRAMEF4/NM_001009611.4/1;CC=c.*206G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:C,T:37:37:0:0:34,3:1039,99:0.00,6.82:0.00,6.82:0.00,0.00:0.00,0.38:0.00,0.38:0.00,0.00:50,23:8.7,67.0:0,0:0,0:51,22:99,128:31,15:-,NM_001009611.2(PRAMEF4) c.*206G>A:-,0.12:-,NOT_FOUND 1 12939210 rs4992639 G T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=45;Gene=PRAMEF4/NM_001009611.4/1;CC=c.*155C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,G,T:41:41:0:0:1,36,4:14,994,127:0.06,0.00,8.98:0.06,0.00,8.98:0.00,0.00,0.00:0.00,0.00,0.58:0.00,0.00,0.58:0.00,0.00,0.00:23,50,23:65.0,13.8,77.5:0,0,0:0,0,0:88,71,65:63,79,84:0,32,19:-,NM_001009611.2(PRAMEF4) c.*155C>A:-,NOT_FOUND:-,NOT_FOUND 1 12939510 rs76993476 C T 120 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=574;DB;DBA=NA;PAF=NA;NP=170;Gene=PRAMEF4/NM_001009611.4/1;CC=c.1292G>A;ProtCh=p.S431N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:574:464:0:0:2,513,2,57:18,16965,18,1725:-0.62,0.00,-0.62,119.66:-0.41,0.00,-0.39,119.28:-0.21,0.00,-0.23,0.39:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:50,60,43,40:120.0,10.4,150.5,110.3:0,0,0,0:0,0,0,0:51,59,83,59:100,88,64,90:29,32,15,11:-,NM_001009611.2(PRAMEF4) c.1292G>A (p.Ser431Asn):-,NOT_FOUND:-,NOT_FOUND 1 12939548 rs28599804 G C 196 lc VT=SNV;PN=G;NN=G;SST=Single;DP=662;DB;DBA=NA;PAF=NA;NP=10;NP=17;Gene=PRAMEF4/NM_001009611.4/1;CC=c.1254C>G;ProtCh=p.P418=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:662:468:0:0:2,77,582,1:24,2628,17984,11:-0.65,196.50,0.00,-0.48:-0.32,161.88,0.00,-0.26:-0.33,34.61,0.00,-0.22:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:43,40,60,42:130.0,107.8,8.0,241.0:0,0,1,0:0,0,0,0:140,90,69,130:7,60,77,21:4,11,36,0:NM_001009611.2(PRAMEF4) c.1254C>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 12939562 rs28656460 G C 181 lc VT=SNV;PN=A;NN=C;SST=Single;DP=679;DB;DBA=NA;PAF=NA;Gene=PRAMEF4/NM_001009611.4/1;CC=c.1240C>G;ProtCh=p.L414V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:679:469:0:0:74,605:2475,20283:181.38,0.00:151.62,0.00:29.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:110.2,8.1:0,0:0,0:105,74:46,75:10,37:NM_001009611.2(PRAMEF4) c.1240C>G (p.Leu414Val),-:NOT_FOUND,-:NOT_FOUND,- 1 12939904 rs3895133 A C 75 lc VT=SNV;PN=A;NN=C;SST=Single;DP=465;DB;DBA=NA;PAF=NA;NP=1;NP=1112;Gene=PRAMEF4/NM_001009611.4/1;CC=c.898T>G;ProtCh=p.F300V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,C,G,T:465:213:0:0:425,37,2,1:13121,1128,25,9:0.00,74.68,-0.58,-0.35:0.00,68.51,-0.12,-0.10:0.00,6.17,-0.46,-0.26:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,40,40,24:7.5,49.4,174.5,95.0:0,0,0,0:0,0,0,0:92,72,81,118:53,77,69,17:33,29,6,0:-,NM_001009611.2(PRAMEF4) c.898T>G (p.Phe300Val):-,NOT_FOUND:-,NOT_FOUND 1 12939927 . C . . NT END=12941674;NT GT ./. 1 12940016 rs55642883 C A 43 nt VT=SNV;PN=A;NN=C;SST=Single;DP=203;DB;DBA=NA;PAF=NA;NP=673;Gene=PRAMEF4/NM_001009611.4/1;CC=c.876-90G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,C,T:203:20:0:0:21,181,1:619,5438,10:42.79,0.00,-0.34:10.61,0.00,-0.02:32.18,0.00,-0.32:1.00,0.00,0.00:0.79,0.00,0.00:1.00,0.00,0.00:51,55,30:75.0,16.2,69.0:0,1,0:0,0,0:42,101,48:109,50,103:25,33,0:NM_001009611.2(PRAMEF4) c.876-90G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12940068 rs2994082 G A 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=170;DB;DBA=NA;PAF=NA;NP=467;Gene=PRAMEF4/NM_001009611.4/1;CC=c.876-142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:170:3:0:0:23,1,144,2:689,10,4810,31:50.88,-0.31,0.00,0.16:-0.16,-0.01,0.00,-0.01:51.04,-0.31,0.00,0.17:1.00,0.00,0.00,0.00:0.41,0.00,0.00,0.00:1.00,0.00,0.00,0.00:51,52,55,40:144.8,83.0,24.7,149.5:0,0,0,0:0,0,0,0:46,81,78,57:104,70,72,78:14,0,41,44:NM_001009611.2(PRAMEF4) c.876-142C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12940111 rs61429700 T C 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=NA;NP=721;Gene=PRAMEF4/NM_001009611.4/1;CC=c.876-185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:137:4:0:0:30,107:1028,3381:85.86,0.00:-0.27,0.00:86.13,0.00:1.00,0.00:0.63,0.00:1.00,0.00:54,55:142.3,26.5:0,0:0,0:86,102:62,49:12,33:NM_001009611.2(PRAMEF4) c.876-185A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12940117 rs28459245 C G 183 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=130;DB;DBA=NA;PAF=NA;NP=2232;PC=0.002;Gene=PRAMEF4/NM_001009611.4/1;CC=c.876-191G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:130:4:0:0:73,57:2273,1949:0.00,183.43:0.00,-0.50:0.00,183.93:0.00,1.00:0.00,0.90:0.00,1.00:55,51:9.4,106.9:0,0:0,0:104,93:47,58:26,20:-,NM_001009611.2(PRAMEF4) c.876-191G>C:-,NOT_FOUND:-,NOT_FOUND 1 12940149 rs56273326 C A 112 nt VT=SNV;PN=G;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=136;Gene=PRAMEF4/NM_001009611.4/1;CC=c.876-223G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:97:3:0:0:39,58:1222,1922:112.40,0.00:-0.34,0.00:112.74,0.00:1.00,0.00:0.80,0.00:1.00,0.00:51,55:118.9,19.0:0,0:0,0:118,101:33,49:13,22:NM_001009611.2(PRAMEF4) c.876-223G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12940313 rs28699033 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=63;Gene=PRAMEF4/NM_001009611.4/1;CC=c.876-387G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:C,T:11:0:0:0:6,5:205,156:0.00,14.69:0.00,0.00:0.00,14.69:0.00,0.93:0.00,0.00:0.00,0.93:42,39:17.2,46.8:0,0:0,0:83,70:67,81:30,4:-,NM_001009611.2(PRAMEF4) c.876-387G>A:-,NOT_FOUND:-,NOT_FOUND 1 12941438 rs61781963 G A 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7841,G/0.2159;Gene=PRAMEF4/NM_001009611.4/1;CC=c.875+237C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:13,14:367,440:34.75,0.00:34.75,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:57,60:50.4,16.3:0,0:0,0:28,72:123,75:17,38:NM_001009611.2(PRAMEF4) c.875+237C>T,-:0.22,-:NOT_FOUND,- 1 12941621 rs201490773 T G 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=188;DB;DBA=NA;PAF=T/0.9892,C/.,G/0.01078;PC=0.002;Gene=PRAMEF4/NM_001009611.4/1;CC=c.875+54A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:G,T:188:177:0:0:20,168:607,5165:42.77,0.00:37.68,0.00:5.09,0.00:1.00,0.00:1.00,0.00:0.93,0.00:28,55:122.5,8.2:0,0:0,0:66,55:84,93:13,31:NM_001009611.2(PRAMEF4) c.875+54A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 12941633 rs199904256 C T 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=209;DB;DBA=NA;PAF=NA;PC=0.004;Gene=PRAMEF4/NM_001009611.4/1;CC=c.875+42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,G,T:209:192:0:0:188,1,20:6338,29,603:0.00,0.70,41.33:0.00,0.76,36.10:0.00,-0.06,5.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.95:55,52,24:7.9,98.0,125.7:0,0,0:0,0,0:61,122,68:89,29,83:30,0,16:-,NM_001009611.2(PRAMEF4) c.875+42G>A:-,NOT_FOUND:-,NOT_FOUND 1 12941647 rs202047809 G A 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=238;DB;DBA=NA;PAF=NA;Gene=PRAMEF4/NM_001009611.4/1;CC=c.875+28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:238:212:0:0:22,216:693,7113:48.03,0.00:34.00,0.00:14.03,0.00:1.00,0.00:1.00,0.00:0.98,0.00:28,55:119.9,8.9:0,0:0,0:78,52:72,97:23,34:NM_001009611.2(PRAMEF4) c.875+28C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12941655 rs201199329 A C 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=253;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PRAMEF4/NM_001009611.4/1;CC=c.875+20T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:253:216:0:0:227,25,1:7202,827,8:0.00,59.27,-0.37:0.00,34.70,-0.32:0.00,24.57,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:55,28,40:9.3,110.4,96.0:0,0,0:0,0,0:53,86,19:98,65,131:32,26,0:-,NM_001009611.2(PRAMEF4) c.875+20T>G:-,NOT_FOUND:-,NOT_FOUND 1 12942119 rs61781964 C T 797 lc VT=SNV;PN=T;NN=T;SST=Single;DP=637;DB;DBA=NA;PAF=T/0.7792,C/0.2208;Gene=PRAMEF4/NM_001009611.4/1;CC=c.431G>A;ProtCh=p.R144K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:637:367:0:0:2,365,270:18,12358,8566:-0.43,0.00,797.17:-0.20,0.00,378.38:-0.22,0.00,418.79:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,52:69.0,9.6,38.4:0,0,0:0,0,0:52,78,77:95,65,71:14,37,37:-,NM_001009611.2(PRAMEF4) c.431G>A (p.Arg144Lys):-,0.22:-,0.241231 1 12942179 rs9701962 T C 117 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=580;DB;DBA=NA;PAF=NA;Gene=PRAMEF4/NM_001009611.4/1;CC=c.371A>G;ProtCh=p.H124R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:580:332:0:0:1,50,529:10,1666,17014:-0.44,116.59,0.00:-0.15,129.57,0.00:-0.29,-12.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:5,40,60:124.0,114.6,16.1:0,0,0:0,0,0:87,26,76:64,124,73:0,12,36:NM_001009611.2(PRAMEF4) c.371A>G (p.His124Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 12942257 . C . . NT END=12942922;NT GT ./. 1 12942289 rs2994081 C A 303 nt VT=SNV;PN=T;NN=A;SST=Single;DP=392;DB;DBA=NA;PAF=NA;NP=201;PC=0.008;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-33G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:392:136:0:0:109,281,2:3512,9373,19:302.88,0.00,-0.52:119.45,0.00,-0.05:183.42,0.00,-0.46:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,60,40:100.1,12.5,155.0:0,0,0:0,0,0:73,106,71:78,45,77:37,29,66:NM_001009611.2(PRAMEF4) c.294-33G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12942306 rs2994080 C T 328 nt VT=SNV;PN=A;NN=T;SST=Single;DP=347;DB;DBA=NA;PAF=NA;NP=358;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:347:105:0:0:1,233,113:9,7805,3690:-0.28,0.00,328.00:-0.05,0.00,87.97:-0.23,0.00,240.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,57:105.0,14.7,98.9:0,0,0:0,0,0:115,103,69:35,48,82:0,32,28:-,NM_001009611.2(PRAMEF4) c.294-50G>A:-,NOT_FOUND:-,NOT_FOUND 1 12942384 rs28580205 T C 132 nt VT=SNV;PN=T;NN=T;SST=Single;DP=205;DB;DBA=NA;PAF=NA;NP=1990;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-128A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:205:7:0:0:50,1,154:1571,10,4701:131.68,-0.28,0.00:1.12,-0.01,0.00:130.55,-0.27,0.00:1.00,0.00,0.00:0.83,0.00,0.00:1.00,0.00,0.00:57,40,60:109.6,187.0,52.6:0,0,0:0,0,0:121,100,107:30,46,43:20,0,26:NM_001009611.2(PRAMEF4) c.294-128A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12942399 rs61781965 A G 117 nt VT=SNV;PN=T;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=466;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-143T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:167:4:0:0:119,4,43,1:3115,47,1371,10:0.00,-0.05,116.99,-0.25:0.00,-0.02,3.29,-0.00:0.00,-0.04,113.70,-0.24:0.00,0.00,1.00,0.00:0.00,0.00,0.70,0.00:0.00,0.00,1.00,0.00:60,56,55,53:80.7,69.0,47.0,71.0:0,0,0,0:0,0,0,0:115,87,110,96:36,63,41,55:25,22,25,0:-,NM_001009611.2(PRAMEF4) c.294-143T>C:-,NOT_FOUND:-,NOT_FOUND 1 12942414 rs28438506 G T 175 nt VT=SNV;PN=T;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=NA;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-158C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:120:4:0:0:61,59:1811,1827:0.00,174.74:0.00,6.76:0.00,167.98:0.00,1.00:0.00,0.93:0.00,1.00:60,52:34.8,114.4:0,1:0,0:111,118:38,30:26,18:-,NM_001009611.2(PRAMEF4) c.294-158C>A:-,NOT_FOUND:-,NOT_FOUND 1 12942419 rs2185333 G GT 40 rn VT=INS;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=21;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-164_294-163insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:112:5:23:0:88,2,22:2812,43,568:0.00,1.51,40.27:0.00,-0.03,0.75:0.00,1.54,39.52:0.00,0.00,1.00:0.00,0.00,0.65:0.00,0.00,1.00:60,25,60:69.5,144.0,91.8:1,2,1:0,0,0:116,131,109:32,10,42:24,2,14:-,NM_001009611.2(PRAMEF4) c.294-164_294-163insA:-,NOT_FOUND:-,NOT_FOUND 1 12942430 rs78990759 G C 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=208;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-174C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:96:4:0:0:21,74,1:670,2308,29:55.26,0.00,1.07:3.05,0.00,-0.01:52.20,0.00,1.08:1.00,0.00,0.00:0.63,0.00,0.00:1.00,0.00,0.00:51,60,41:120.9,59.9,63.0:0,0,0:0,0,0:121,121,149:29,29,1:21,18,0:NM_001009611.2(PRAMEF4) c.294-174C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12942446 rs2982074 G C 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=3;NP=46;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-190C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:3:0:0:27,39:869,1189:80.39,0.00:3.25,0.00:77.15,0.00:1.00,0.00:0.81,0.00:1.00,0.00:51,60:104.9,35.6:0,0:0,0:127,116:23,35:12,27:NM_001009611.2(PRAMEF4) c.294-190C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12942526 rs2982183 T C 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.007588,T/0.9924;PC=0.005;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-270A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:3:0:0:14:469:53.57:9.59:43.98:1.00:1.00:1.00:56:59.1:0:0:44:106:19:NM_001009611.2(PRAMEF4) c.294-270A>G,NM_001009611.2(PRAMEF4) c.294-270A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 12942535 rs144821548 A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-279T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,G:17:6:0:0:14,3:442,104:0.00,8.39:0.00,2.54:0.00,5.85:0.00,0.53:0.00,0.66:0.00,0.85:60,40:33.9,147.7:0,0:0,0:53,14:97,135:19,14:-,NM_001009611.2(PRAMEF4) c.294-279T>C:-,NOT_FOUND:-,NOT_FOUND 1 12942562 rs111601764 C G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=35;Gene=PRAMEF4/NM_001009611.4/1;CC=c.294-306G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,G:20:7:0:0:13,7:437,163:0.00,13.98:0.00,3.99:0.00,9.99:0.00,0.97:0.00,0.93:0.00,0.99:60,40:31.2,106.6:0,0:0,0:80,27:71,124:16,14:-,NM_001009611.2(PRAMEF4) c.294-306G>C:-,NOT_FOUND:-,NOT_FOUND 1 12942645 rs80208248 A G 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=46;Gene=PRAMEF4/NM_001009611.4/1;CC=c.293+278T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:21:0:0:18,11:529,312:0.00,28.03:0.00,14.55:0.00,13.48:0.00,1.00:0.00,1.00:0.00,0.98:60,51:26.6,120.4:0,0:0,0:53,80:98,71:42,19:-,NM_001009611.2(PRAMEF4) c.293+278T>C:-,NOT_FOUND:-,NOT_FOUND 1 12942710 rs200968474 G C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=4;Gene=PRAMEF4/NM_001009611.4/1;CC=c.293+213C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,G:53:50:0:0:6,47:184,1376:13.19,0.00:8.94,0.00:4.24,0.00:0.84,0.00:0.99,0.00:0.39,0.00:51,60:136.0,15.9:0,0:0,0:126,33:24,118:14,19:NM_001009611.2(PRAMEF4) c.293+213C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 12942713 rs4345814 C G 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.9237,G/.,T/0.07628;NP=2;NP=65;Gene=PRAMEF4/NM_001009611.4/1;CC=c.293+210G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,G:58:55:0:0:51,7:1697,181:0.00,12.29:0.00,7.96:0.00,4.33:0.00,0.91:0.00,0.99:0.00,0.41:60,51:14.6,130.3:0,0:0,0:32,129:118,22:19,9:-,NM_001009611.2(PRAMEF4) c.293+210G>C:-,NOT_FOUND:-,NOT_FOUND 1 12942862 rs61778465 G C 394 nt VT=SNV;PN=C;NN=C;SST=Single;DP=282;DB;DBA=NA;PAF=C/0.5212,G/0.4788;Gene=PRAMEF4/NM_001009611.4/1;CC=c.293+61C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:282:262:0:0:136,145,1:4134,4238,11:393.76,0.00,-0.20:311.00,0.00,-0.16:82.76,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,52:45.5,11.0,136.0:0,0,0:0,0,0:31,27,100:117,122,51:24,19,0:NM_001009611.2(PRAMEF4) c.293+61C>G,-:0.44,-:NOT_FOUND,- 1 12943216 . G . . NT END=12952746;NT GT ./. 1 12953306 . C . . NT END=12954416;NT GT ./. 1 12953339 rs861047 G A 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:22:0:0:0:4,18:104,549:7.80,0.00:0.00,0.00:7.80,0.00:0.70,0.00:0.00,0.00:0.70,0.00:25,27:55.2,16.3:0,0:0,0:74,108:76,42:9,21:NM_001039361.3(PRAMEF10) c.867-34C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 12954996 . C . . NT END=12955391;NT GT ./. 1 12955679 . T . . NT END=12977512;NT GT ./. 1 12977800 . G . . NT END=12978181;NT GT ./. 1 12978758 . G . . NT END=12979671;NT GT ./. 1 12980234 . A . . NT END=12998504;NT GT ./. 1 12986161 . G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:12:9:0:0:7,5:224,126:22.24,0.00:13.02,0.00:9.22,0.00:0.99,0.00:1.00,0.00:0.93,0.00:27,27:34.4,16.6:0,0:0,0:65,56:86,94:23,35:chr1 g.12986160G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 12986613 rs370210572 CT C 17 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=14;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:CT,C:35:9:0:8:27,8:867,212:0.00,16.85:0.00,8.39:0.00,8.46:0.00,0.98:0.00,0.86:0.00,1.00:43,27:11.3,4.5:0,0:0,0:90,102:61,48:45,32:-,chr1 g.12986614delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12986766 rs200478815 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=428 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,T:14:0:0:0:6,8:169,252:0.00,24.85:0.00,0.00:0.00,24.85:0.00,1.00:0.00,0.00:0.00,1.00:42,27:19.5,42.0:0,0:0,0:122,98:28,53:21,28:-,chr1 g.12986765C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12986769 rs563651291 G T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:G,T:13:0:0:0:10,3:325,103:0.00,8.68:0.00,0.00:0.00,8.68:0.00,0.58:0.00,0.00:0.00,0.58:42,42:35.0,34.3:0,0:0,0:101,120:50,29:28,10:-,chr1 g.12986768G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12987302 rs139997099 T C 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=133 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:19:0:0:11,8:327,248:32.34,0.00:32.34,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:44,42:128.3,6.2:0,0:0,0:43,31:108,119:20,18:chr1 g.12987301T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 12987327 rs142575927 G A 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=212 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:13,11:345,372:33.31,0.00:33.31,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:44,42:123.9,4.5:0,0:0,0:58,42:89,109:24,20:chr1 g.12987326G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 12987349 rs201380147 G A 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=487;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:31:0:0:16,15:497,453:47.98,0.00:47.98,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:44,42:114.4,4.7:0,0:0,0:60,47:90,104:32,31:chr1 g.12987348G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 12987350 rs199692075 A T 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.6348,T/0.3652;NP=483;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:31:31:0:0:15,16:480,470:0.00,45.28:0.00,45.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:42,44:4.7,114.4:0,0:0,0:48,61:103,89:31,32:-,chr1 g.12987349A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12987602 rs76625528 T C 571 nt VT=SNV;PN=G;NN=A;SST=Single;DP=350;DB;DBA=NA;PAF=NA;NP=3287 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:350:271:0:0:1,175,174:10,5927,5500:-0.19,571.06,0.00:-0.14,343.72,0.00:-0.05,227.34,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,43,45:98.0,81.6,5.9:0,0,0:0,0,0:13,73,65:138,77,85:0,36,33:chr1 g.12987601T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 12987614 rs147031341 A G 511 nt VT=SNV;PN=C;NN=G;SST=Single;DP=342;DB;DBA=NA;PAF=NA;NP=3288 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:342:251:0:0:169,173:5691,5313:0.00,510.60:0.00,270.14:0.00,240.47:0.00,1.00:0.00,1.00:0.00,1.00:45,43:6.2,86.3:0,0:0,0:64,71:83,76:26,30:-,chr1 g.12987613A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12987679 rs199598351 A G 443 nt VT=SNV;PN=G;NN=G;SST=Single;DP=312;DB;DBA=NA;PAF=NA;NP=2757 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:312:164:0:0:157,1,154:5066,13,4630:0.00,-0.14,442.66:0.00,-0.01,181.49:0.00,-0.12,261.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,27,43:7.5,74.0,82.8:0,0,0:0,0,0:95,75,105:55,76,46:32,0,28:-,chr1 g.12987678A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12987833 . A G 564 nt VT=SNV;PN=C;NN=C;SST=Single;DP=328;NP=2498 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:328:228:0:0:147,181:4743,5760:0.00,564.28:0.00,326.19:0.00,238.09:0.00,1.00:0.00,1.00:0.00,1.00:43,43:6.0,49.5:0,0:0,0:50,44:100,106:35,34:-,chr1 g.12987832A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12987951 rs148022983 C T 909 nt VT=SNV;PN=C;NN=A;SST=Single;DP=588;DB;DBA=NA;PAF=NA;NP=2772 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:588:363:0:0:294,294:9729,9458:0.00,908.95:0.00,395.64:0.00,513.31:0.00,1.00:0.00,1.00:0.00,1.00:44,43:6.0,48.6:0,0:0,0:79,85:68,65:35,34:-,chr1 g.12987950C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 12999067 . C . . NT END=13000813;NT GT ./. 1 13000963 rs200242081 G A 81 lc VT=SNV;PN=G;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=327;Gene=PRAMEF6/NM_001010889.2/1;CC=c.720C>T;ProtCh=p.S240=;VC=Silent;Gene=PRAMEF9/NM_001010890.2/1;CC=c.725C>T;ProtCh=p.P242L;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.725C>T;ProtCh=p.P242L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:99:0:0:30,69:926,2143:80.55,0.00:80.55,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:56.2,12.2:0,0:0,0:39,36:111,113:28,24:NM_001010889.2(PRAMEF6) c.720C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 13001186 rs200795385 C T 1402 lc VT=SNV;PN=G;NN=A;SST=Single;DP=799;DB;DBA=NA;PAF=NA;NP=3404;Gene=PRAMEF6/NM_001010889.2/1;CC=c.497G>A;ProtCh=p.C166Y;VC=Missense;Gene=PRAMEF9/NM_001010890.2/1;CC=c.502G>A;ProtCh=p.A168T;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.502G>A;ProtCh=p.A168T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:799:674:0:0:1,316,2,480:10,10454,21,14064:-0.13,0.00,-0.34,1402.24:-0.08,0.00,-0.21,1084.55:-0.04,0.00,-0.13,317.69:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,50,40,52:32.0,19.4,89.5,47.8:0,0,0,0:0,0,0,0:74,39,119,36:77,111,25,114:0,25,0,26:-,NM_001010889.2(PRAMEF6) c.497G>A (p.Cys166Tyr):-,NOT_FOUND:-,NOT_FOUND 1 13001252 rs58114990 T C 783 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1235;DB;DBA=NA;PAF=NA;Gene=PRAMEF6/NM_001010889.2/1;CC=c.431A>G;ProtCh=p.Q144R;VC=Missense;Gene=PRAMEF9/NM_001010890.2/1;CC=c.436A>G;ProtCh=p.S146G;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.436A>G;ProtCh=p.S146G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1235:905:0:0:1,301,1,932:10,9369,21,31745:-0.39,782.99,-0.27,0.00:-0.21,492.51,-0.08,0.00:-0.18,290.49,-0.18,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:34,43,1,55:108.0,41.4,69.0,32.7:0,0,0,0:0,0,0,0:41,72,109,63:110,79,42,83:0,22,0,28:NM_001010889.2(PRAMEF6) c.431A>G (p.Gln144Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 13001312 rs61779367 C G 2260 lc VT=SNV;PN=G;NN=A;SST=Single;DP=1338;DB;DBA=NA;PAF=NA;NP=3422;PC=0.001;Gene=PRAMEF6/NM_001010889.2/1;CC=c.371G>C;ProtCh=p.C124S;VC=Missense;Gene=PRAMEF9/NM_001010890.2/1;CC=c.376G>C;ProtCh=p.A126P;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.376G>C;ProtCh=p.A126P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1338:757:0:0:2,619,713,4:18,20897,23200,36:-0.25,0.00,2260.21,-0.70:-0.11,0.00,814.23,-0.29:-0.14,0.00,1445.98,-0.41:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:51,55,53,51:100.0,24.3,48.4,87.0:0,0,0,0:0,0,0,0:56,89,80,61:94,60,68,89:43,36,33,20:-,NM_001010889.2(PRAMEF6) c.371G>C (p.Cys124Ser):-,NOT_FOUND:-,NOT_FOUND 1 13001396 . C . . NT END=13002061;NT GT ./. 1 13001414 rs199777518 G A 147 nt VT=SNV;PN=T;NN=A;SST=Single;DP=548;DB;DBA=NA;PAF=G/0.8403,A/0.1597;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-19C>T;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-19C>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-19C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:548:102:0:0:65,3,480:2025,31,15727:147.21,-0.87,0.00:26.54,-0.13,0.00:120.67,-0.74,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,40,43:70.2,156.3,58.1:0,0,0:0,0,0:129,118,115:21,32,35:13,12,24:NM_001010889.2(PRAMEF6) c.288-19C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13001418 rs150206676 C A 162 nt VT=SNV;PN=A;NN=T;SST=Single;DP=508;DB;DBA=NA;PAF=NA;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-23G>T;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-23G>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-23G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:508:84:0:0:68,439,1:2159,14546,11:161.66,0.00,-0.35:27.14,0.00,-0.01:134.53,0.00,-0.34:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:41,43,2:48.5,67.4,36.0:0,0,0:0,0,0:113,116,139:37,35,12:28,24,0:NM_001010889.2(PRAMEF6) c.288-23G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13001428 rs61779368 C A 793 nt VT=SNV;PN=T;NN=A;SST=Single;DP=428;DB;DBA=NA;PAF=C/0.9804,A/0.01957;NP=2712;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-33G>T;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-33G>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-33G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:428:54:0:0:257,171:7961,5585:793.43,0.00:8.77,0.00:784.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,42:99.8,25.1:0,0:0,0:122,99:29,50:21,31:NM_001010889.2(PRAMEF6) c.288-33G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13001445 rs61779369 C T 534 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=323;DB;DBA=NA;PAF=NA;NP=2443;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-50G>A;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-50G>A;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:323:27:0:0:151,172:4997,5485:0.00,533.58:0.00,-3.85:0.00,537.42:0.00,1.00:0.00,1.00:0.00,1.00:50,40:25.3,117.9:1,0:0,0:104,112:47,39:35,28:-,NM_001010889.2(PRAMEF6) c.288-50G>A:-,NOT_FOUND:-,NOT_FOUND 1 13001465 rs28716670 G T 341 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=242;DB;DBA=NA;PAF=NA;NP=1525;PC=0.002;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-70C>A;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-70C>A;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-70C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:242:13:0:0:126,116:4087,3583:0.00,340.79:0.00,-0.23:0.00,341.02:0.00,1.00:0.00,1.00:0.00,1.00:50,40:24.2,126.5:0,0:0,0:90,102:60,48:40,25:-,NM_001010889.2(PRAMEF6) c.288-70C>A:-,NOT_FOUND:-,NOT_FOUND 1 13001489 rs61779370 C G 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=182;DB;DBA=NA;PAF=C/0.5851,G/0.4149;NP=1005;PC=0.006;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-94G>C;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-94G>C;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-94G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:182:4:0:0:151,31:5002,1001:0.00,78.86:0.00,1.36:0.00,77.50:0.00,1.00:0.00,0.53:0.00,1.00:50,50:82.4,60.2:0,0:0,0:107,78:44,73:23,30:-,NM_001010889.2(PRAMEF6) c.288-94G>C:-,NOT_FOUND:-,NOT_FOUND 1 13001517 rs534934833 C T 130 nt VT=SNV;PN=C;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=348;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-122G>A;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-122G>A;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:142:2:0:0:95,47:2919,1463:0.00,129.57:0.00,-0.26:0.00,129.83:0.00,1.00:0.00,0.63:0.00,1.00:50,36:34.6,165.2:0,0:0,0:97,126:53,22:31,16:-,NM_001010889.2(PRAMEF6) c.288-122G>A:-,NOT_FOUND:-,NOT_FOUND 1 13001523 . T C 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=130;NP=18;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-128A>G;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-128A>G;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-128A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:130:2:0:0:24,106:744,3260:58.94,0.00:-0.13,0.00:59.08,0.00:1.00,0.00:0.45,0.00:1.00,0.00:36,50:185.2,49.8:0,0:0,0:125,102:24,47:13,30:NM_001010889.2(PRAMEF6) c.288-128A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 13001538 rs574689477 G A 54 nt VT=SNV;PN=T;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=11;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-143C>T;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-143C>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:103:2:0:0:24,2,76,1:667,19,2398,11:54.26,-0.32,0.00,-0.20:-0.17,-0.01,0.00,-0.01:54.43,-0.31,0.00,-0.20:1.00,0.00,0.00,0.00:0.51,0.00,0.00,0.00:1.00,0.00,0.00,0.00:35,22,50,24:181.2,195.5,35.1,101.0:0,0,0,0:0,0,0,0:124,66,94,141:24,84,56,8:16,37,31,0:NM_001010889.2(PRAMEF6) c.288-143C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13001564 . C T 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-169G>A;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-169G>A;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:2:0:0:63,13:2020,342:0.00,25.39:0.00,-0.12:0.00,25.52:0.00,1.00:0.00,0.43:0.00,1.00:50,25:34.5,165.2:0,1:0,0:111,84:39,67:28,40:-,NM_001010889.2(PRAMEF6) c.288-169G>A:-,NOT_FOUND:-,NOT_FOUND 1 13001569 . G C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=71;PC=0.002;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-174C>G;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-174C>G;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-174C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,C,G:71:2:0:0:1,6,64:20,170,2018:0.32,11.13,0.00:-0.01,-0.08,0.00:0.33,11.21,0.00:0.00,0.79,0.00:0.00,0.30,0.00:0.00,0.98,0.00:31,40,50:203.0,152.3,44.2:0,0,0:0,0,0:53,54,114:98,94,36:0,13,26:NM_001010889.2(PRAMEF6) c.288-174C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 13001590 . A G 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=55;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-195T>C;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-195T>C;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:55:2:0:0:38,3,14:1024,40,364:0.00,1.07,29.94:0.00,-0.05,-0.25:0.00,1.11,30.19:0.00,0.00,1.00:0.00,0.00,0.54:0.00,0.00,1.00:50,40,40:15.7,125.0,121.8:0,0,0:0,0,0:119,96,76:32,54,74:24,18,14:-,NM_001010889.2(PRAMEF6) c.288-195T>C:-,NOT_FOUND:-,NOT_FOUND 1 13001599 . G A 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;NP=1;PC=0.008;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-204C>T;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-204C>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:2:0:0:14,34:436,1004:37.70,0.00:-0.30,0.00:37.99,0.00:1.00,0.00:0.58,0.00:1.00,0.00:40,50:126.9,27.0:0,0:0,0:82,102:67,47:15,29:NM_001010889.2(PRAMEF6) c.288-204C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13001643 . C T 7 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;NP=11;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-248G>A;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-248G>A;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-248G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,T:33:2:0:0:30,3:833,97:0.00,6.77:0.00,-0.08:0.00,6.86:0.00,0.41:0.00,0.31:0.00,0.87:50,16:53.3,161.0:0,0:0,0:119,102:31,49:23,38:-,NM_001010889.2(PRAMEF6) c.288-248G>A:-,NOT_FOUND:-,NOT_FOUND 1 13001696 . A G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;NP=37;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-301T>C;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-301T>C;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-301T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:14:1:0:0:10,4:265,142:0.00,12.48:0.00,-0.07:0.00,12.55:0.00,0.77:0.00,0.52:0.00,0.77:50,23:34.8,114.8:0,0:0,0:113,71:38,79:27,36:-,NM_001010889.2(PRAMEF6) c.288-301T>C:-,NOT_FOUND:-,NOT_FOUND 1 13001722 rs367898779 T A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=9;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-327A>T;VC=Intron;Gene=PRAMEF9/NM_001010890.2/1;CC=c.293-327A>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-327A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,T:10:1:0:0:4,6:141,205:13.09,0.00:-0.11,0.00:13.20,0.00:0.84,0.00:0.60,0.00:0.84,0.00:23,42:114.8,20.7:0,0:0,0:97,120:53,30:36,15:NM_001010889.2(PRAMEF6) c.288-327A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13002349 . C . . NT END=13035542;NT GT ./. 1 13013117 rs56637077 C T 94 nt VT=SNV;PN=G;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.7917,T/0.2083;NP=987 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:93:61:0:0:1,59,33:12,1884,1043:-0.11,0.00,93.98:-0.13,0.00,66.57:0.02,0.00,27.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:13,43,43:150.0,9.5,143.8:0,0,0:0,0,0:5,86,75:145,61,76:0,36,40:-,NM_001010889.2(PRAMEF6) c.-86-u5711G>A:-,NOT_FOUND:-,NOT_FOUND 1 13013146 rs372198660 C T 86 nt VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9932,A/0.006789;NP=457;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:81:49:0:0:50,1,30:1590,9,949:0.00,-0.17,86.23:0.00,-0.11,55.12:0.00,-0.06,31.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,13,43:9.5,150.0,167.8:0,0,0:0,0,0:87,34,76:64,116,75:41,0,34:-,NM_001010889.2(PRAMEF6) c.-86-u5740G>A:-,NOT_FOUND:-,NOT_FOUND 1 13013149 rs377024834 A C 95 nt VT=SNV;PN=G;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=427 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:77:46:0:0:46,31:1446,1025:0.00,94.74:0.00,59.62:0.00,35.12:0.00,1.00:0.00,1.00:0.00,1.00:43,43:9.1,167.2:0,0:0,0:80,78:71,73:35,35:-,NM_001010889.2(PRAMEF6) c.-86-u5743T>G:-,NOT_FOUND:-,NOT_FOUND 1 13013173 rs369689684 A G 71 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9918,C/0.008187;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:68:39:0:0:42,1,25:1374,15,783:0.00,0.10,70.99:0.00,-0.12,43.63:0.00,0.22,27.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,25,40:8.1,110.0,187.4:0,0,0:0,0,0:71,132,80:79,5,70:27,0,24:-,NM_001010889.2(PRAMEF6) c.-86-u5767T>C:-,NOT_FOUND:-,NOT_FOUND 1 13013178 rs374183434 C T 66 nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9916,A/0.008387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:38:0:0:43,25:1362,735:0.00,65.96:0.00,36.57:0.00,29.39:0.00,1.00:0.00,1.00:0.00,1.00:42,40:10.7,185.6:0,0:0,0:83,85:68,65:30,24:-,NM_001010889.2(PRAMEF6) c.-86-u5772G>A:-,NOT_FOUND:-,NOT_FOUND 1 13013185 rs564432364 T A 68 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.899,A/0.101;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:63:39:0:0:23,40:746,1317:67.61,0.00:43.36,0.00:24.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:188.1,10.5:0,0:0,0:92,85:58,65:22,23:NM_001010889.2(PRAMEF6) c.-86-u5779A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13013315 rs6668293 A G 27 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:39:0:0:56,10:1743,344:0.00,26.99:0.00,-2.17:0.00,29.16:0.00,0.99:0.00,0.99:0.00,1.00:43,25:35.6,43.5:0,0:0,0:63,53:86,96:33,17:-,NM_001010889.2(PRAMEF6) c.-86-u5909T>C:-,NOT_FOUND:-,NOT_FOUND 1 13013334 rs200934003 T G 188 nt VT=SNV;PN=T;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.97,G/0.02995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:67:36:0:0:55,12:1755,380:188.00,0.00:103.66,0.00:84.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,25:36.8,36.2:0,0:0,0:72,66:76,84:28,23:NM_001010889.2(PRAMEF6) c.-86-u5928A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13014397 rs11122077 C A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=59 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:34:34:0:0:9,24,1:301,746,21:26.01,0.00,0.77:26.01,0.00,0.77:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:27,39,27:33.4,15.6,57.0:0,0,0:0,0,0:64,43,8:87,102,143:39,29,0:NM_001010889.2(PRAMEF6) c.-86-u6991G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13015044 rs199668137 G A 62 nt VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:85:1:0:0:24,1,58,2:717,9,1980,22:61.61,-0.21,0.00,-0.10:-0.14,-0.01,0.00,-0.01:61.76,-0.21,0.00,-0.09:1.00,0.00,0.00,0.00:0.52,0.00,0.00,0.00:1.00,0.00,0.00,0.00:27,27,27,7:45.2,80.0,3.9,55.0:0,0,0,0:0,0,0,0:98,80,87,27:53,58,63,123:31,0,27,8:chr1 g.13015043G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13035836 . G . . NT END=13036221;NT GT ./. 1 13036141 . A G 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=93;NP=35;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-81A>G;VC=Intron;Gene=PRAMEF22/NM_001100631.1/1;CC=c.294-81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:86:0:0:67,26:2109,839:0.00,72.38:0.00,65.56:0.00,6.82:0.00,1.00:0.00,1.00:0.00,0.95:40,40:16.6,58.9:0,0:0,0:29,26:122,122:20,13:-,NM_001100631.1(PRAMEF22) c.294-81A>G:-,NOT_FOUND:-,NOT_FOUND 1 13036247 rs201369259 T A 324 lc VT=SNV;PN=A;NN=T;SST=Single;DP=285;DB;DBA=NA;PAF=NA;NP=1199;PC=0.074;Gene=PRAMEF18/NM_001099850.2/1;CC=c.313T>A;ProtCh=p.L105M;VC=Missense;Gene=PRAMEF22/NM_001100631.1/1;CC=c.319T>A;ProtCh=p.L107M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:285:251:0:0:115,170:3526,5344:323.92,0.00:319.78,0.00:4.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,45:68.7,8.7:0,0:0,0:65,60:85,80:31,29:NM_001100631.1(PRAMEF22) c.319T>A (p.Leu107Met),-:NOT_FOUND,-:NOT_FOUND,- 1 13036296 rs201492352 C T 98 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=260;DB;DBA=NA;PAF=A/0.9169,G/0.08307;Gene=PRAMEF18/NM_001099850.2/1;CC=c.362C>T;ProtCh=p.P121L;VC=Missense;Gene=PRAMEF22/NM_001100631.1/1;CC=c.368C>T;ProtCh=p.P123L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:260:211:0:0:220,1,39:6759,5,1272:0.00,-0.37,98.25:0.00,-0.24,97.67:0.00,-0.13,0.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,17,40:21.1,63.0,91.2:0,0,0:0,0,0:87,73,83:61,78,66:22,0,30:-,NM_001100631.1(PRAMEF22) c.368C>T (p.Pro123Leu):-,NOT_FOUND:-,NOT_FOUND 1 13036330 rs61780077 G A 275 sb,lc VT=SNV;PN=G;NN=C;SST=Single;DP=233;DB;DBA=NA;PAF=NA;NP=98;Gene=PRAMEF18/NM_001099850.2/1;CC=c.396G>A;ProtCh=p.R132=;VC=Silent;Gene=PRAMEF22/NM_001100631.1/1;CC=c.402G>A;ProtCh=p.R134=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:233:172:0:0:99,1,133:2966,9,4151:275.01,-0.20,0.00:276.63,-0.10,0.00:-1.61,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:31,25,41:72.0,63.0,5.0:0,0,0:0,0,0:105,113,111:46,37,39:31,0,23:NM_001100631.1(PRAMEF22) c.402G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 13036447 rs1320957 C G 559 lc VT=SNV;PN=T;NN=C;SST=Single;DP=277;DB;DBA=NA;PAF=NA;NP=1091;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.513C>G;ProtCh=p.V171=;VC=Silent;Gene=PRAMEF22/NM_001100631.1/1;CC=c.519C>G;ProtCh=p.V173=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:277:155:0:0:1,100,175,1:9,3134,5544,10:-0.14,0.00,559.27,-0.13:-0.09,0.00,318.56,-0.05:-0.05,0.00,240.71,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:25,25,40,7:132.0,10.3,47.6,21.0:0,0,0,0:0,0,0,0:66,78,64,129:84,72,86,21:0,32,32,0:-,NM_001100631.1(PRAMEF22) c.519C>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13036587 rs61780078 C T 884 lc VT=SNV;PN=C;NN=G;SST=Single;DP=484;DB;DBA=NA;PAF=A/0.9239,G/0.07608;NP=3467;Gene=PRAMEF18/NM_001099850.2/1;CC=c.653C>T;ProtCh=p.P218L;VC=Missense;Gene=PRAMEF22/NM_001100631.1/1;CC=c.659C>T;ProtCh=p.P220L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:484:262:0:0:210,1,273:6259,28,8974:0.00,0.50,884.24:0.00,0.58,244.85:0.00,-0.09,639.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:45,25,45:8.8,133.0,48.8:0,0,0:0,0,0:71,91,70:76,60,79:30,0,32:-,NM_001100631.1(PRAMEF22) c.659C>T (p.Pro220Leu):-,NOT_FOUND:-,NOT_FOUND 1 13036654 rs201636235 C T 174 lc VT=SNV;PN=C;NN=G;SST=Single;DP=356;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PRAMEF18/NM_001099850.2/1;CC=c.720C>T;ProtCh=p.S240=;VC=Silent;Gene=PRAMEF22/NM_001100631.1/1;CC=c.726C>T;ProtCh=p.S242=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:356:154:0:0:291,65:8692,2165:0.00,174.19:0.00,29.28:0.00,144.90:0.00,1.00:0.00,1.00:0.00,1.00:44,44:20.7,73.4:0,0:0,0:106,110:41,36:23,19:-,NM_001100631.1(PRAMEF22) c.726C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13036736 rs61780079 T A 57 lc VT=SNV;PN=G;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.8668,A/0.1332;NP=22;Gene=PRAMEF18/NM_001099850.2/1;CC=c.802T>A;ProtCh=p.Y268N;VC=Missense;Gene=PRAMEF22/NM_001100631.1/1;CC=c.808T>A;ProtCh=p.Y270N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:94:12:0:0:22,2,70:680,21,2085:56.56,-0.22,0.00:2.13,-0.07,0.00:54.42,-0.15,0.00:1.00,0.00,0.00:0.93,0.00,0.00:1.00,0.00,0.00:40,40,42:42.2,64.0,4.2:0,0,0:0,0,0:138,98,112:12,42,39:6,42,29:NM_001100631.1(PRAMEF22) c.808T>A (p.Tyr270Asn),-:NOT_FOUND,-:NOT_FOUND,- 1 13036801 . G . . NT END=13037807;NT GT ./. 1 13038221 . C T 14 lc VT=SNV;PN=T;NN=G;SST=Single;DP=5;NP=1;Gene=PRAMEF18/NM_001099850.2/1;CC=c.1280C>T;ProtCh=p.S427L;VC=Missense;Gene=PRAMEF22/NM_001100631.1/1;CC=c.1286C>T;ProtCh=p.S429L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:5:5:0:0:1,4:35,127:0.00,13.52:0.00,13.52:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:27,40:45.0,104.2:0,0:0,0:16,19:135,131:0,11:-,NM_001100631.1(PRAMEF22) c.1286C>T (p.Ser429Leu):-,NOT_FOUND:-,NOT_FOUND 1 13038327 rs199598633 G T 53 lc VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=75;Gene=PRAMEF18/NM_001099850.2/1;CC=c.1386G>T;ProtCh=p.T462=;VC=Silent;Gene=PRAMEF22/NM_001100631.1/1;CC=c.1392G>T;ProtCh=p.T464=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:G,T:22:22:0:0:6,16:153,508:0.00,52.95:0.00,52.95:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:27.7,67.1:0,0:0,0:74,65:77,80:24,25:-,NM_001100631.1(PRAMEF22) c.1392G>T (p.(=)):-,0.56:-,NOT_FOUND 1 13038382 . T . . NT END=13108837;NT GT ./. 1 13038561 rs61780086 A C 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.004;Gene=PRAMEF18/NM_001099850.2/1;CC=c.*180A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,C:18:1:0:0:4,14:117,451:0.00,47.64:0.00,-0.65:0.00,48.29:0.00,1.00:0.00,0.85:0.00,1.00:59,42:0.0,35.9:0,0:0,0:51,57:100,93:22,15:-,chr1 g.13038560A>C (intergenic):-,0.57:-,NOT_FOUND 1 13038679 rs201148801 G GAAAACAA 11 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.006;Gene=PRAMEF18/NM_001099850.2/1;CC=c.*303_*309dupCAAAAAA;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:G,GAAAACAA:9:1:4:0:5,4:140,116:0.00,10.83:0.00,-0.13:0.00,10.96:0.00,0.85:0.00,0.63:0.00,0.85:60,57:43.4,27.5:0,0:0,0:109,62:42,88:38,19:-,chr1 g.13038679_13038680insAAAACAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 13052539 rs201172464 G A 115 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=697;Gene=PRAMEF25/NM_001310134.1/1;CC=c.*187C>T;VC=3UTR;Gene=PRAMEF26/NM_001306072/0;CC=c.*187C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:45:0:0:34,11:1096,304:115.09,0.00:115.09,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,60:75.0,13.9:0,0:0,0:30,51:118,100:18,16:chr1 g.13052538G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13052589 rs71225489 A T 207 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=2044;NP=3;PC=0.001;Gene=PRAMEF25/NM_001310134.1/1;CC=c.*137T>A;VC=3UTR;Gene=PRAMEF26/NM_001306072/0;CC=c.*137T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:74:73:0:0:17,57:534,1974:0.00,207.28:0.00,207.92:0.00,-0.64:0.00,1.00:0.00,1.00:0.00,0.85:60,40:14.4,64.8:0,0:0,0:62,50:88,99:32,27:-,chr1 g.13052588A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 13052789 rs61780142 G A 734 nt VT=SNV;PN=T;NN=T;SST=Single;DP=479;DB;DBA=NA;PAF=NA;NP=3054;PC=0.001;Gene=PRAMEF25/NM_001310134.1/1;CC=c.1376-2C>T;VC=SpliceSiteCDS;Gene=PRAMEF26/NM_001306072/0;CC=c.1376-2C>T;VC=SpliceSiteCDS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:479:364:0:0:243,236:7630,7825:734.45,0.00:454.94,0.00:279.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.3,11.1:0,0:0,0:69,75:82,75:33,35:chr1 g.13052788G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13052871 rs79792138 C T 598 nt VT=SNV;PN=G;NN=T;SST=Single;DP=437;DB;DBA=NA;PAF=NA;NP=3054;Gene=PRAMEF25/NM_001310134.1/1;CC=c.1376-84G>A;VC=Intron;Gene=PRAMEF26/NM_001306072/0;CC=c.1376-84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:437:272:0:0:1,233,203:8,7832,6318:-0.19,0.00,597.65:-0.10,0.00,268.46:-0.09,0.00,329.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,60,60:85.0,16.8,78.6:0,0,0:0,0,0:58,86,92:93,61,59:0,33,28:-,chr1 g.13052870C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 13052907 rs72474524 T C 795 nt VT=SNV;PN=C;NN=G;SST=Single;DP=352;DB;DBA=NA;PAF=NA;NP=3394;PC=0.009;Gene=PRAMEF25/NM_001310134.1/1;CC=c.1376-120A>G;VC=Intron;Gene=PRAMEF26/NM_001306072/0;CC=c.1376-120A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:352:197:0:1:3,253,96:31,7642,3191:-0.05,795.31,0.00:0.15,308.82,0.00:-0.21,486.49,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:23,60,60:118.0,62.0,5.3:0,0,0:0,0,0:122,113,93:28,36,54:17,22,26:chr1 g.13052906T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13109400 . C . . NT END=13111145;NT GT ./. 1 13111584 rs200257916 T C 8 lc VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=PRAMEF25/NM_001310134.1/1;CC=c.437A>G;ProtCh=p.Q146R;VC=Missense;Gene=PRAMEF26/NM_001306072/0;CC=c.437A>G;ProtCh=p.Q146R;VC=Missense;Gene=PRAMEF5/NM_001013407.2/1;CC=c.431A>G;ProtCh=p.Q144R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:C,T:9:8:0:0:3,6:87,200:7.64,0.00:4.44,0.00:3.20,0.00:0.64,0.00:0.94,0.00:0.56,0.00:23,25:46.3,21.3:0,0:0,0:48,130:103,19:23,3:XM_001130065.4(PRAMEF23) c.674A>G (p.Gln225Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 13111650 rs201024050 T C 27 lc VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=PRAMEF25/NM_001310134.1/1;CC=c.371A>G;ProtCh=p.H124R;VC=Missense;Gene=PRAMEF26/NM_001306072/0;CC=c.371A>G;ProtCh=p.H124R;VC=Missense;Gene=PRAMEF5/NM_001013407.2/1;CC=c.365A>G;ProtCh=p.H122R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:11:11:0:0:8,3:261,71:27.17,0.00:27.17,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:25,25:44.6,26.7:0,0:0,0:25,91:125,60:9,23:XM_001130065.4(PRAMEF23) c.608A>G (p.His203Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 13111728 . C . . NT END=13112393;NT GT ./. 1 13111821 rs368445657 C G 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.9834,C/0.01657;NP=196;PC=0.002;Gene=PRAMEF25/NM_001310134.1/1;CC=c.294-94G>C;VC=Intron;Gene=PRAMEF26/NM_001306072/0;CC=c.294-94G>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.288-94G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C,G:30:2:0:0:1,29:36,928:0.00,104.68:0.00,3.76:0.00,100.92:0.00,1.00:0.00,1.00:0.00,1.00:13,42:32.0,57.2:0,0:0,0:61,114:89,31:0,16:XM_001130065.4(PRAMEF23) c.531-94G>C,XM_001130065.4(PRAMEF23) c.531-94G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13112681 . C . . NT END=13140449;NT GT ./. 1 13122989 rs551336228 C CA 12 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;PC=0.134;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,CA:5:5:4:0:1,4:34,108:0.00,11.62:0.00,11.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:40,40:41.0,17.5:0,0:0,0:6,31:145,119:0,11:-,XM_001130065.4(PRAMEF23) c.1-u413_1-u412insT:-,NOT_FOUND:-,NOT_FOUND 1 13123162 rs569931093 C CA 14 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,CA,D:27:29:11:1:17,9,1:559,211,30:0.00,13.71,1.76:0.00,13.71,1.76:0.00,0.00,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.00,0.00:51,40,50:8.1,18.3,0.0:0,2,0:0,0,0:21,68,4:129,83,147:14,35,0:-,XM_001130065.4(PRAMEF23) c.1-u586_1-u585insT:-,NOT_FOUND:-,NOT_FOUND 1 13123381 rs570114623 A G 64 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=193 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:4:0:0:10,19:297,634:0.00,64.37:0.00,1.52:0.00,62.85:0.00,1.00:0.00,0.99:0.00,1.00:40,40:5.1,56.1:0,0:0,0:115,118:35,33:16,26:-,XM_001130065.4(PRAMEF23) c.1-u804T>C:-,NOT_FOUND:-,NOT_FOUND 1 13123447 rs371191128 A G 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1674 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:1:0:0:9:300:34.29:3.18:31.11:1.00:1.00:1.00:40:67.0:0:0:66:85:13:XM_001130065.4(PRAMEF23) c.1-u870T>C,XM_001130065.4(PRAMEF23) c.1-u870T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13123504 . A G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:27:0:0:27,8:887,274:0.00,23.05:0.00,23.95:0.00,-0.90:0.00,0.98:0.00,1.00:0.00,0.84:40,25:25.5,103.2:0,0:0,0:41,13:110,137:21,5:-,XM_001130065.4(PRAMEF23) c.1-u927T>C:-,NOT_FOUND:-,NOT_FOUND 1 13123509 . C T 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:32:0:0:30,10:961,311:0.00,26.13:0.00,27.10:0.00,-0.98:0.00,1.00:0.00,0.98:0.00,0.87:40,25:22.9,93.6:0,0:0,0:38,14:112,136:23,8:-,XM_001130065.4(PRAMEF23) c.1-u932G>A:-,NOT_FOUND:-,NOT_FOUND 1 13123516 . T A 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:37:0:0:12,33:398,1093:34.20,0.00:35.27,0.00:-1.07,0.00:1.00,0.00:1.00,0.00:0.88,0.00:25,40:83.5,22.4:0,0:0,0:18,39:133,111:9,26:XM_001130065.4(PRAMEF23) c.1-u939A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13123728 . G A 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=94;NP=7;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:94:44:0:0:26,1,67:817,14,2254:70.18,-0.07,0.00:18.65,0.15,0.00:51.52,-0.22,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,2,42:36.5,47.0,23.7:0,0,0:0,0,0:117,133,98:33,18,52:18,0,21:XM_001130065.4(PRAMEF23) c.1-u1151C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13123782 rs539117297 C T 46 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:3:0:0:33,17:1041,522:0.00,46.38:0.00,4.87:0.00,41.50:0.00,1.00:0.00,0.74:0.00,1.00:42,40:36.1,85.5:0,0:0,0:110,106:39,45:28,17:-,XM_001130065.4(PRAMEF23) c.1-u1205G>A:-,NOT_FOUND:-,NOT_FOUND 1 13123783 rs552731690 C T 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:5:0:0:33,18:1011,575:0.00,51.73:0.00,6.46:0.00,45.27:0.00,1.00:0.00,0.88:0.00,1.00:42,40:36.4,84.4:0,0:0,0:103,107:48,43:27,18:-,XM_001130065.4(PRAMEF23) c.1-u1206G>A:-,NOT_FOUND:-,NOT_FOUND 1 13123802 rs61780146 C T 74 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=19;PC=0.273 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:41:0:0:0:15,2,24:500,24,736:0.00,0.67,73.72:0.00,0.00,0.00:0.00,0.67,73.72:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:25,25,25:16.3,68.0,87.0:0,0,0:0,0,0:104,77,120:47,73,30:30,13,12:-,XM_001130065.4(PRAMEF23) c.1-u1225G>A:-,NOT_FOUND:-,NOT_FOUND 1 13123821 . A G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,G:36:0:0:0:29,7:907,180:0.00,13.67:0.00,0.00:0.00,13.67:0.00,0.94:0.00,0.00:0.00,0.94:25,24:52.3,112.6:0,0:0,0:123,95:28,36:22,44:-,XM_001130065.4(PRAMEF23) c.1-u1244T>C:-,NOT_FOUND:-,NOT_FOUND 1 13123854 . A G 13 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,C,G,T:19:0:0:0:12,1,5,1:404,5,150,10:0.00,-0.17,12.90,0.09:0.00,0.00,0.00,0.00:0.00,-0.17,12.90,0.09:0.00,0.00,0.86,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.86,0.00:25,24,18,24:41.3,86.0,123.0,75.0:0,0,0,0:0,0,0,0:116,85,128,57:34,66,3,93:12,0,21,0:-,XM_001130065.4(PRAMEF23) c.1-u1277T>C:-,NOT_FOUND:-,NOT_FOUND 1 13140743 . G . . NT END=13141128;NT GT ./. 1 13141237 . G A 52 lc VT=SNV;PN=G;NN=C;SST=Single;DP=15;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:452:52.30:52.30:0.00:1.00:1.00:0.00:25:61.3:0:0:53:97:29:XM_003118846.2(PRAMEF25) c.402G>A (p.(=)),XM_003118846.2(PRAMEF25) c.402G>A (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13141354 rs199640823 C G 149 lc VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=171 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C,G:43:43:0:0:1,42:8,1308:0.00,149.15:0.00,149.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:25,25:180.0,51.3:0,0:0,0:126,60:25,90:0,30:XM_003118846.2(PRAMEF25) c.519C>G (p.(=)),XM_003118846.2(PRAMEF25) c.519C>G (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13141494 rs371250475 C T 65 lc VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=351 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:19:0:0:19:557:64.70:64.70:0.00:1.00:1.00:0.00:25:52.9:0:0:133:18:9:XM_003118846.2(PRAMEF25) c.659C>T (p.Pro220Leu),XM_003118846.2(PRAMEF25) c.659C>T (p.Pro220Leu):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13141518 rs375882296 C G 129 lc VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=5;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:35:0:0:39:1107:129.27:112.03:17.23:1.00:1.00:1.00:40:43.5:0:0:11:140:8:XM_003118846.2(PRAMEF25) c.683C>G (p.Pro228Arg),XM_003118846.2(PRAMEF25) c.683C>G (p.Pro228Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13141561 rs200582121 C T 100 lc VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:130:99:0:0:95,35:2973,1165:0.00,100.33:0.00,79.88:0.00,20.45:0.00,1.00:0.00,1.00:0.00,1.00:42,42:15.2,48.1:0,0:0,0:33,33:117,117:11,14:-,XM_003118846.2(PRAMEF25) c.726C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13141584 . G . . NT END=13142562;NT GT ./. 1 13141835 rs79437155 C T 146 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=2868 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:G,T:42:1:0:0:1,41:7,1271:0.10,146.15:0.00,3.87:0.10,142.28:0.00,1.00:0.00,0.98:0.00,1.00:41,41:115.0,46.9:0,0:0,0:24,97:127,54:0,25:XM_003118846.2(PRAMEF25) c.872+128C>T,XM_003118846.2(PRAMEF25) c.872+128C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13142690 . G . . NT END=13144438;NT GT ./. 1 13145001 . A . . NT END=13182990;NT GT ./. 1 13171797 rs1984453 T C 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2945,T/0.7055 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:278:31.62:31.62:0.00:1.00:1.00:0.00:60:36.2:0:0:61:89:40:chr1 g.13171796T>C (intergenic),chr1 g.13171796T>C (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 1 13173016 rs1852947 A G 155 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.5559,A/0.4441;PC=0.086 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C,G:43:19:0:0:1,42:19,1355:0.81,154.90:0.00,42.09:0.81,112.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:214.0,42.9:0,0:0,0:113,89:33,56:0,32:chr1 g.13173015A>G (intergenic),chr1 g.13173015A>G (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 1 13173220 rs543575016 C T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,T:5:0:0:0:2,3:53,101:0.00,10.07:0.00,0.00:0.00,10.07:0.00,0.78:0.00,0.00:0.00,0.78:60,60:18.0,50.0:0,0:0,0:71,119:79,30:64,19:-,chr1 g.13173219C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 13182542 rs78389315 A G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=87;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:4:0:0:1,3:34,101:0.00,10.55:0.00,10.55:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,58:0.0,138.0:0,0:0,0:107,74:44,77:0,12:-,chr1 g.13182541A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 13182544 rs78316375 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=85 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:103,34:10.75,0.00:10.75,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:58,60:138.0,0.0:0,0:0,0:76,109:75,42:12,0:chr1 g.13182543T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13182567 rs75627772 G C 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=42;PC=0.102 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:5:5:0:0:3,2:82,68:8.16,0.00:8.16,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:58,60:138.0,0.0:0,0:0,0:99,66:52,84:12,66:chr1 g.13182566G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13182829 rs28610356 A G 91 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3121,A/0.6879;PC=0.697 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:G:28:28:0:0:28:775:90.53:90.53:0.00:1.00:1.00:0.00:60:56.2:0:0:73:76:32:chr1 g.13182828A>G (intergenic),chr1 g.13182828A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13182899 rs28537666 A G 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.8321,G/0.1679;NP=2794;PC=0.982 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:60:0:0:54,13:1687,413:0.00,33.21:0.00,27.41:0.00,5.80:0.00,1.00:0.00,1.00:0.00,0.94:60,60:12.4,151.6:0,0:0,0:39,53:111,95:22,14:-,chr1 g.13182898A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 13182929 rs76623819 T A 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=605;PC=0.794 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:85:73:0:0:14,71:460,2245:36.17,0.00:28.34,0.00:7.84,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:142.2,8.5:0,0:0,0:80,48:69,100:17,27:chr1 g.13182928T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13182942 rs79355085 T A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=78;PC=0.889 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:99:85:0:0:14,85:415,2847:30.73,0.00:21.88,0.00:8.86,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:140.1,10.6:0,0:0,0:86,48:65,96:17,26:chr1 g.13182941T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 13183213 rs28373323 T A 53 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=211;DB;DBA=NA;PAF=NA;PC=0.006;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.660A>T;ProtCh=p.S220=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:211:138:0:0:23,1,187:736,29,6262:53.09,0.70,0.00:53.36,0.92,0.00:-0.27,-0.21,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,52,60:269.2,266.0,10.4:0,0,0:0,0,0:9,0,76:142,151,72:5,0,38:NM_001136561.2(LOC440563) c.660A>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 13183225 rs28634306 T C 84 sb,lc VT=SNV;PN=T;NN=T;SST=Single;DP=223;DB;DBA=NA;PAF=NA;PC=0.597;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.648A>G;ProtCh=p.K216=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:223:145:0:0:33,190:1088,5909:84.01,0.00:84.43,0.00:-0.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:260.5,8.3:0,0:0,0:15,69:136,81:6,39:NM_001136561.2(LOC440563) c.648A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 13183228 rs144054379 C T 74 sb,lc VT=SNV;PN=T;NN=A;SST=Single;DP=220;DB;DBA=NA;PAF=NA;PC=0.349;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.645G>A;ProtCh=p.V215=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:220:141:0:0:186,1,33:6158,13,980:0.00,-0.30,73.59:0.00,-0.08,79.19:0.00,-0.22,-5.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,52,52:7.8,126.0,242.6:0,0,0:0,0,0:71,147,19:78,4,129:38,0,6:-,NM_001136561.2(LOC440563) c.645G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13183237 rs141111983 C T 86 sb,lc VT=SNV;PN=C;NN=T;SST=Single;DP=226;DB;DBA=NA;PAF=NA;PC=0.919;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.636G>A;ProtCh=p.E212=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:226:147:0:0:1,191,34:11,6217,1115:-0.28,0.00,86.28:-0.11,0.00,85.42:-0.17,0.00,0.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,52:86.0,6.7,253.3:0,0,0:0,0,0:113,61,25:38,87,125:0,36,5:-,NM_001136561.2(LOC440563) c.636G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13183238 rs150951326 T C 85 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=229;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.721;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.635A>G;ProtCh=p.E212G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:229:149:0:0:34,195:1107,6253:85.23,0.00:84.99,0.00:0.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:253.3,7.9:0,0:0,0:26,72:124,78:5,40:NM_001136561.2(LOC440563) c.635A>G (p.Glu212Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 13183243 rs138897759 T C 91 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=236;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.630A>G;ProtCh=p.K210=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:236:154:0:0:35,201:1169,6319:90.64,0.00:89.51,0.00:1.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,52:248.1,6.3:0,0:0,0:31,67:120,82:6,38:NM_001136561.2(LOC440563) c.630A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 13183248 rs141472183 T A 96 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=236;DB;DBA=NA;PAF=NA;NP=15;PC=1.000;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.625A>T;ProtCh=p.S209C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:236:156:0:0:38,1,1,196:1231,12,7,6467:96.19,-0.27,-0.32,0.00:94.38,-0.17,-0.15,0.00:1.81,-0.10,-0.17,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:52,42,42,52:234.2,12.0,86.0,7.3:0,0,0,0:0,0,0,0:35,104,124,68:116,47,27,81:9,0,0,38:NM_001136561.2(LOC440563) c.625A>T (p.Ser209Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 13183249 rs139566100 C A 91 lc VT=SNV;PN=T;NN=T;SST=Single;DP=241;DB;DBA=NA;PAF=C/0.988,A/0.01198;NP=211;PC=1.000;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.624G>T;ProtCh=p.Q208H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:241:162:0:0:43,196,1,1:1196,6506,13,10:91.39,0.00,-0.25,-0.30:87.17,0.00,-0.08,-0.13:4.21,0.00,-0.17,-0.17:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:52,52,42,42:219.4,6.1,43.0,86.0:0,0,0,0:0,0,0,0:36,67,145,125:115,83,6,26:9,38,0,0:NM_001136561.2(LOC440563) c.624G>T (p.Gln208His),-:NOT_FOUND,-:NOT_FOUND,- 1 13183310 . G A 127 lc VT=SNV;PN=G;NN=T;SST=Single;DP=437;NP=12;PC=0.993;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.563C>T;ProtCh=p.T188I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:437:332:0:0:53,1,383:1719,10,12056:127.25,-0.31,0.00:89.06,-0.19,0.00:38.19,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,27,60:59.2,123.0,30.0:0,0,0:0,0,0:32,56,54:116,95,95:20,0,30:NM_001136561.2(LOC440563) c.563C>T (p.Thr188Ile),-:NOT_FOUND,-:NOT_FOUND,- 1 13183439 rs28713604 T C 1935 lc VT=SNV;PN=G;NN=G;SST=Single;DP=541;DB;DBA=NA;PAF=C/0.3203,T/0.6797;PC=0.991;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.434A>G;ProtCh=p.H145R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:541:332:0:0:539,2:16820,19:1935.47,0.08:988.50,0.08:946.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,26:67.0,62.5:0,0:0,0:79,142:69,8:37,7:NM_001136561.2(LOC440563) c.434A>G (p.His145Arg),NM_001136561.2(LOC440563) c.434A>G (p.His145Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13183511 rs72864546 T C 625 lc VT=SNV;PN=A;NN=C;SST=Single;DP=457;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.362A>G;ProtCh=p.D121G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:457:264:0:0:210,247:6614,7787:624.52,0.00:197.80,0.00:426.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:155.9,21.0:0,0:0,0:105,68:43,80:21,38:NM_001136561.2(LOC440563) c.362A>G (p.Asp121Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 13183528 rs76937665 A C 496 lc VT=SNV;PN=G;NN=A;SST=Single;DP=422;DB;DBA=NA;PAF=NA;NP=15;PC=0.941;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.345T>G;ProtCh=p.F115L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:422:247:0:0:258,162,2:8006,5408,20:0.00,496.48,-0.45:0.00,133.94,-0.20:0.00,362.54,-0.25:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,56:18.5,193.1,28.0:0,0,0:0,0,0:73,108,46:75,40,104:35,17,41:-,NM_001136561.2(LOC440563) c.345T>G (p.Phe115Leu):-,NOT_FOUND:-,NOT_FOUND 1 13183530 rs200046163 A G 80 lc VT=SNV;PN=A;NN=G;SST=Single;DP=419;DB;DBA=NA;PAF=NA;PC=0.998;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.343T>C;ProtCh=p.F115L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,C,G:419:241:0:0:381,2,36:12308,16,1160:0.00,-0.75,80.08:0.00,-0.31,28.67:0.00,-0.44,51.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,58,60:70.7,86.5,222.0:0,0,0:0,0,0:76,126,107:73,23,39:39,0,15:-,NM_001136561.2(LOC440563) c.343T>C (p.Phe115Leu):-,NOT_FOUND:-,NOT_FOUND 1 13183532 rs77505369 C T 437 lc VT=SNV;PN=G;NN=C;SST=Single;DP=421;DB;DBA=NA;PAF=NA;PC=0.986;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.341G>A;ProtCh=p.G114D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:421:244:0:0:1,266,154:11,8519,4838:-0.20,0.00,437.43:-0.12,0.00,108.50:-0.08,0.00,328.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:3,60,60:207.0,17.7,198.9:0,0,0:0,0,0:14,71,108:137,77,42:0,38,19:-,NM_001136561.2(LOC440563) c.341G>A (p.Gly114Asp):-,NOT_FOUND:-,NOT_FOUND 1 13183533 rs77556803 C T 438 lc VT=SNV;PN=C;NN=A;SST=Single;DP=424;DB;DBA=NA;PAF=NA;PC=0.986;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.340G>A;ProtCh=p.G114S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:424:246:0:0:1,267,1,155:12,8529,12,4844:-0.20,0.00,-0.20,437.82:-0.09,0.00,-0.09,107.26:-0.11,0.00,-0.11,330.56:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,33,60:99.0,13.9,149.0,199.1:0,0,0,0:0,0,0,0:117,55,133,109:34,94,16,41:0,37,0,19:-,NM_001136561.2(LOC440563) c.340G>A (p.Gly114Ser):-,NOT_FOUND:-,NOT_FOUND 1 13183567 rs78160026 C T 313 lc VT=SNV;PN=C;NN=G;SST=Single;DP=387;DB;DBA=NA;PAF=NA;NP=1;NP=331;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.306G>A;ProtCh=p.A102=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:387:219:0:0:277,110:8583,3609:0.00,313.14:0.00,15.86:0.00,297.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,209.7:0,0:0,0:72,96:77,54:37,39:-,NM_001136561.2(LOC440563) c.306G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13183573 rs76669210 G T 279 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=386;DB;DBA=NA;PAF=G/0.9509,A/.,T/0.04912;NP=519;PC=0.012;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.300C>A;ProtCh=p.S100=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:386:218:0:0:1,1,282,102:11,12,8555,3270:-0.32,-0.31,0.00,279.30:-0.21,-0.15,0.00,-0.23:-0.12,-0.16,0.00,279.52:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:51,51,60,56:41.0,71.0,8.5,208.4:0,0,0,0:0,0,0,0:39,30,58,97:112,121,91,53:0,0,31,35:-,NM_001136561.2(LOC440563) c.300C>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13183631 rs80009603 A T 133 sb,lc VT=SNV;PN=A;NN=C;SST=Single;DP=355;DB;DBA=NA;PAF=A/0.9671,T/0.03295;PC=0.014;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.242T>A;ProtCh=p.V81D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:355:197:0:0:296,1,58:9142,25,1738:0.00,0.20,133.13:0.00,-0.19,-11.17:0.00,0.39,144.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,1,40:7.6,91.0,152.0:0,0,11:0,0,0:86,0,97:60,151,52:30,0,34:-,NM_001136561.2(LOC440563) c.242T>A (p.Val81Asp):-,NOT_FOUND:-,NOT_FOUND 1 13183634 rs2982225 G A 126 sb,lc VT=SNV;PN=T;NN=C;SST=Single;DP=352;DB;DBA=NA;PAF=G/0.9671,A/0.03295;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.239C>T;ProtCh=p.A80V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:352:192:0:0:59,293:1663,9742:125.55,0.00:-11.18,0.00:136.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:150.9,8.4:11,0:0,0:100,87:50,58:35,32:NM_001136561.2(LOC440563) c.239C>T (p.Ala80Val),-:NOT_FOUND,-:NOT_FOUND,- 1 13183780 rs116484938 A C 40 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=229;DB;DBA=NA;PAF=NA;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.93T>G;ProtCh=p.S31=;VC=Silent;DM=HNRNPCL2/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,C:229:103:0:0:207,22:6895,605:0.00,39.86:0.00,-3.27:0.00,43.12:0.00,1.00:0.00,1.00:0.00,1.00:60,40:6.9,67.8:0,0:0,0:90,118:57,30:38,20:-,NM_001136561.2(LOC440563) c.93T>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13183873 . T . . NT END=13328832;NT GT ./. 1 13183966 rs80025711 G T 73 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.992,T/0.007987;NP=2336;PC=0.001;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.-94C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:74:20:0:0:50,24:1618,816:0.00,72.80:0.00,29.75:0.00,43.06:0.00,1.00:0.00,1.00:0.00,1.00:57,43:35.0,55.2:0,0:0,0:86,111:64,38:36,10:-,NM_001136561.2(LOC440563) c.-94C>A:-,NOT_FOUND:-,NOT_FOUND 1 13183973 rs3929664 G A 148 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.4317,G/0.5683;NP=998;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.-101C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:18:0:0:48,25:1459,857:148.39,0.00:2.77,0.00:145.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,43:36.0,47.1:0,0:0,0:88,122:63,26:32,8:NM_001136561.2(LOC440563) c.-101C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13184008 rs79143802 A C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.97,C/0.02995;NP=26;PC=0.008;Gene=HNRNPCL2/NM_001136561.3/1;CC=c.-136T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:49:1:0:0:39,10:1133,312:0.00,25.21:0.00,1.49:0.00,23.72:0.00,0.99:0.00,0.47:0.00,0.99:60,39:33.2,77.9:0,0:0,0:99,141:52,9:28,7:-,NM_001136561.2(LOC440563) c.-136T>G:-,NOT_FOUND:-,NOT_FOUND 1 13218643 rs1883344 A C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=11;PC=0.044 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,C:15:15:0:0:11,4:345,89:0.00,7.03:0.00,7.03:0.00,0.00:0.00,0.76:0.00,0.76:0.00,0.00:60,27:29.3,51.2:0,0:0,0:32,29:119,120:19,7:-,XM_928401.3(LOC645359) c.626+357T>G:-,NOT_FOUND:-,NOT_FOUND 1 13218668 rs374051193 T C 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=4;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:27:26:0:0:6,21:206,546:17.26,0.00:17.37,0.00:-0.11,0.00:0.91,0.00:0.99,0.00:0.48,0.00:40,60:55.7,25.2:0,0:0,0:49,28:101,119:17,26:XM_928401.3(LOC645359) c.626+332A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 13218757 rs61780822 T G 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=374 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:102:101:0:0:15,87:417,2565:30.50,0.00:30.60,0.00:-0.10,0.00:1.00,0.00:1.00,0.00:0.39,0.00:42,60:59.7,33.3:0,0:0,0:34,34:117,117:21,21:XM_928401.3(LOC645359) c.626+243A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13218776 rs201702654 G A 105 nt VT=SNV;PN=G;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA;NP=621 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:119:0:0:37,83:1197,2394:105.21,0.00:105.45,0.00:-0.24,0.00:1.00,0.00:1.00,0.00:0.60,0.00:60,60:56.5,23.0:0,0:0,0:46,40:105,108:25,23:XM_928401.3(LOC645359) c.626+224C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13218811 rs4097022 T G 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=166;DB;DBA=NA;PAF=NA;NP=137;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:166:166:0:0:1,27,138:35,743,4400:1.40,55.43,0.00:1.40,55.46,0.00:-0.00,-0.04,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.44,0.00:9,45,60:103.0,56.7,25.7:0,0,0:0,0,0:63,36,62:87,115,88:0,28,28:XM_928401.3(LOC645359) c.626+189A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13218904 rs2486712 T A 222 nt VT=SNV;PN=T;NN=C;SST=Single;DP=356;DB;DBA=NA;PAF=NA;NP=214 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:356:341:0:0:89,267:2665,8000:222.16,0.00:205.63,0.00:16.53,0.00:1.00,0.00:1.00,0.00:0.97,0.00:40,40:41.4,12.1:0,0:0,0:41,42:110,108:29,30:XM_928401.3(LOC645359) c.626+96A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 13219149 rs61780824 G A 830 nt VT=SNV;PN=G;NN=G;SST=Single;DP=1331;DB;DBA=NA;PAF=NA;NP=368;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1331:681:0:0:303,1,1025,2:9951,11,31889,24:830.22,-0.43,0.00,-0.81:200.57,-0.18,0.00,-0.37:629.65,-0.25,0.00,-0.44:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:41,40,43,40:41.2,135.0,13.3,31.0:0,0,0,0:0,0,0,0:94,10,94,61:56,102,56,89:31,0,31,52:XM_928401.3(LOC645359) c.477C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 13219209 . G A 281 nt VT=SNV;PN=G;NN=A;SST=Single;DP=1125;NP=109 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1125:425:0:0:126,4,992,3:3915,48,31254,30:281.29,-1.38,0.00,-1.19:230.23,-0.55,0.00,-0.33:51.06,-0.84,0.00,-0.86:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,40,60,40:65.9,59.0,15.3,28.7:0,0,0,0:0,0,0,0:66,98,84,81:85,48,67,70:34,20,36,14:XM_928401.3(LOC645359) c.417C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 13219248 rs113166532 G T 334 nt VT=SNV;PN=G;NN=A;SST=Single;DP=1081;DB;DBA=NA;PAF=NA;NP=43;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1081:508:0:0:2,1,930,148:20,14,29143,4506:-0.76,-0.37,0.00,334.37:-0.28,-0.13,0.00,276.10:-0.48,-0.24,0.00,58.27:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,40,60,40:54.0,74.0,13.3,59.4:0,0,0,0:0,0,0,0:95,128,75,67:52,23,74,83:38,0,40,39:-,XM_928401.3(LOC645359) c.378C>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13219438 rs1966160 C T 355 nt VT=SNV;PN=C;NN=G;SST=Single;DP=1452;DB;DBA=NA;PAF=NA;NP=330 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1452:900:0:0:2,1298,2,150:52,39297,15,4926:0.21,0.00,-0.55,355.30:-0.26,0.00,-0.25,200.61:0.46,0.00,-0.30,154.69:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,57,27,40:154.0,7.9,43.0,39.1:0,0,0,0:0,0,0,0:96,80,23,75:50,69,127,74:13,34,22,27:-,XM_928401.3(LOC645359) c.188G>A (p.Arg63Gln):-,NOT_FOUND:-,NOT_FOUND 1 13219736 . AT A 69 idl,rn VT=DEL;SST=Single;DP=117;PC=0.005;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,T,I,A:100:1:6:50:62,2,3,5,28:1564,23,44,147,1239:0.00,-0.02,0.93,7.43,68.69:0.00,-0.01,-0.01,-0.02,-0.12:0.00,-0.01,0.94,7.45,68.81:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.49:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:28.9,72.5,87.0,37.4,44.7:0,1,0,1,16:0,0,0,0,0:136,89,133,55,91:13,62,18,85,60:11,45,0,18,25:-,XM_928401.3(LOC645359) c.1-u43delA:-,NOT_FOUND:-,NOT_FOUND 1 13329407 . C . . NT END=13330413;NT GT ./. 1 13330993 . C . . NT END=13331378;NT GT ./. 1 13331672 . A . . NT END=13364890;NT GT ./. 1 13353767 rs202084856 G A 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=123;PC=0.142;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-22775C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A:6:6:0:0:6:103:12.95:12.95:0.00:1.00:1.00:0.00:25:101.7:0:0:60:78:12:NM_001013407.1(PRAMEF5) c.-100-u6052G>A,NM_001013407.1(PRAMEF5) c.-100-u6052G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13354188 . T C 131 nt VT=SNV;PN=T;NN=G;SST=Single;DP=80;NP=90;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-23196A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:45:0:0:44,36:1344,1177:131.27,0.00:54.86,0.00:76.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,42:40.8,14.0:0,0:0,0:106,89:42,61:20,21:NM_001013407.1(PRAMEF5) c.-100-u5631T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13365178 . G . . NT END=13365843;NT GT ./. 1 13365517 rs200111356 A T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=66;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34525T>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.288-327A>T;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-327A>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-327A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:22:127.5:0:0:24:125:16:NM_001013407.1(PRAMEF5) c.288-327A>T,NM_001013407.1(PRAMEF5) c.288-327A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13365596 rs28477587 G A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=76;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34604C>T;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.288-248G>A;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-248G>A;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-248G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:20:20:0:0:5,15:158,428:13.30,0.00:13.30,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:22,40:96.2,64.1:0,0:0,0:82,14:69,136:10,10:NM_001013407.1(PRAMEF5) c.288-248G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 13365622 rs151128163 C T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=236;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34630G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.288-222C>T;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-222C>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-222C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:13,11:375,333:0.00,31.34:0.00,31.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:87.1,38.9:0,0:0,0:51,34:98,114:34,13:-,NM_001013407.1(PRAMEF5) c.288-222C>T:-,NOT_FOUND:-,NOT_FOUND 1 13365640 rs28716395 C T 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.8045,T/0.1955;NP=117;PC=0.005;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34648G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.288-204C>T;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-204C>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:32:32:0:0:16,2,14:455,15,438:0.00,0.08,41.44:0.00,0.08,41.44:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:50,25,51:28.4,185.5,67.9:0,0,0:0,0,0:45,40,53:104,109,96:21,12,41:-,NM_001013407.1(PRAMEF5) c.288-204C>T:-,NOT_FOUND:-,NOT_FOUND 1 13365747 rs201169636 C G 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=498;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34755G>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.288-97C>G;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-97C>G;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-97C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:89:87:0:0:68,21:2165,683:0.00,57.23:0.00,54.35:0.00,2.87:0.00,1.00:0.00,1.00:0.00,0.59:50,51:11.9,56.8:0,0:0,0:57,90:93,61:26,15:-,NM_001013407.1(PRAMEF5) c.288-97C>G:-,NOT_FOUND:-,NOT_FOUND 1 13365821 rs71224607 T G 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34829A>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.288-23T>G;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.288-23T>G;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.293-23T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:92:70:0:0:12,80:402,2537:30.47,0.00:7.98,0.00:22.49,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,43:59.2,6.9:0,0:0,0:65,68:86,74:11,31:NM_001013407.1(PRAMEF5) c.288-23T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 13365921 rs199562274 A G 16 lc VT=SNV;PN=C;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34929T>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.365A>G;ProtCh=p.H122R;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.365A>G;ProtCh=p.H122R;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.370A>G;ProtCh=p.M124V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G,T:83:5:0:0:73,9,1:2169,239,13:0.00,16.09,-0.16:0.00,-0.17,-0.02:0.00,16.26,-0.14:0.00,0.96,0.00:0.00,0.43,0.00:0.00,1.00,0.00:40,25,25:22.9,52.2,245.0:0,0,0:0,0,0:84,64,9:58,86,142:41,34,0:-,NM_001013407.1(PRAMEF5) c.365A>G (p.His122Arg):-,NOT_FOUND:-,NOT_FOUND 1 13365987 rs199741513 A G 132 lc VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.003;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-34995T>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.431A>G;ProtCh=p.Q144R;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.431A>G;ProtCh=p.Q144R;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.436A>G;ProtCh=p.S146G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:0:0:0:14,40:444,1266:0.00,132.26:0.00,0.00:0.00,132.26:0.00,1.00:0.00,0.00:0.00,1.00:40,40:61.1,50.6:0,0:0,0:48,106:103,43:16,28:-,NM_001013407.1(PRAMEF5) c.431A>G (p.Gln144Arg):-,NOT_FOUND:-,NOT_FOUND 1 13366043 . T C 20 lc VT=SNV;PN=A;NN=A;SST=Single;DP=33;NP=4;PC=0.002;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-35051A>G;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.487T>C;ProtCh=p.Y163H;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.487T>C;ProtCh=p.Y163H;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.492T>C;ProtCh=p.N164=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:0:0:0:8,25:245,726:20.40,0.00:0.00,0.00:20.40,0.00:0.98,0.00:0.00,0.00:0.98,0.00:40,40:46.8,66.2:0,0:0,0:100,119:51,32:13,23:NM_001013407.1(PRAMEF5) c.487T>C (p.Tyr163His),-:NOT_FOUND,-:NOT_FOUND,- 1 13366053 rs200188871 G A 63 lc VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-35061C>T;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.497G>A;ProtCh=p.C166Y;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.497G>A;ProtCh=p.C166Y;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.502G>A;ProtCh=p.A168T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:0:0:0:21,8:602,251:62.76,0.00:0.00,0.00:62.76,0.00:1.00,0.00:0.00,0.00:1.00,0.00:33,40:71.4,46.8:0,0:0,0:107,110:41,41:32,13:NM_001013407.1(PRAMEF5) c.497G>A (p.Cys166Tyr),-:NOT_FOUND,-:NOT_FOUND,- 1 13366426 . G . . NT END=13368171;NT GT ./. 1 13367978 rs187733329 T C 9 end;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-36986A>G;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.870-194T>C;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.870-194T>C;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.875-194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:C,T:4:4:0:0:3,1:82,28:8.65,0.00:8.65,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:12,3:101.0,145.0:0,0:0,0:3,35:148,116:2,0:NM_001013407.1(PRAMEF5) c.870-194T>C,-:0.24,-:NOT_FOUND,- 1 13367982 rs200951049 C T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-36990G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.870-190C>T;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.870-190C>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.875-190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T,I:8:8:1:0:3,4,1:78,111,22:0.00,10.91,1.61:0.00,10.91,1.61:0.00,0.00,0.00:0.00,0.87,0.00:0.00,0.87,0.00:0.00,0.00,0.00:24,24,22:58.0,143.0,32.0:0,0,0:0,0,0:5,5,2:145,145,149:2,5,0:-,NM_001013407.1(PRAMEF5) c.870-190C>T:-,NOT_FOUND:-,NOT_FOUND 1 13367987 rs28650105 A G 8 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-36995T>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.870-185A>G;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.870-185A>G;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.875-185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:14:14:0:0:9,5:275,96:0.00,7.99:0.00,7.99:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:24,24:44.2,125.6:1,0:0,0:7,5:144,146:3,3:-,NM_001013407.1(PRAMEF5) c.870-185A>G:-,NOT_FOUND:-,NOT_FOUND 1 13368030 rs61780839 C T 103 nt VT=SNV;PN=T;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=305;PC=0.002;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37038G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.870-142C>T;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.870-142C>T;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.875-142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:77:0:0:39,38:1312,1077:0.00,102.51:0.00,102.65:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.66:40,30:36.1,51.0:0,0:0,0:32,32:118,119:8,7:-,NM_001013407.1(PRAMEF5) c.870-142C>T:-,NOT_FOUND:-,NOT_FOUND 1 13368032 rs369048527 T G 55 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=34;PC=0.002;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37040A>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.870-140T>G;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.870-140T>G;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.875-140T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:77:77:0:0:21,56:644,1805:54.83,0.00:53.07,0.00:1.76,0.00:1.00,0.00:1.00,0.00:0.52,0.00:40,30:35.6,46.5:0,0:0,0:32,35:118,116:5,7:NM_001013407.1(PRAMEF5) c.870-140T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 13368098 rs28580304 T A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=6;PC=0.006;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37106A>T;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.870-74T>A;VC=Intron;Gene=PRAMEF6/NM_001010889.2/1;CC=c.870-74T>A;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.875-74T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,T:76:76:0:0:9,67:301,2171:22.40,0.00:22.70,0.00:-0.30,0.00:0.97,0.00:0.97,0.00:0.68,0.00:24,40:56.3,40.2:0,0:0,0:101,100:50,51:8,7:NM_001013407.1(PRAMEF5) c.870-74T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 13368365 . C T 40 lc VT=SNV;PN=C;NN=T;SST=Single;DP=20;NP=15;PC=0.429;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37373G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.1063C>T;ProtCh=p.L355=;VC=Silent;Gene=PRAMEF6/NM_001010889.2/1;CC=c.1063C>T;ProtCh=p.L355=;VC=Silent;Gene=PRAMEF27/NM_001300891.1/1;CC=c.1068C>T;ProtCh=p.T356=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:1:0:0:8,12:250,398:0.00,39.69:0.00,-0.40:0.00,40.09:0.00,1.00:0.00,0.73:0.00,1.00:23,30:25.9,66.0:0,0:0,0:71,74:79,77:44,34:-,NM_001013407.1(PRAMEF5) c.1063C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13368445 . C T 28 lc VT=SNV;PN=A;NN=A;SST=Single;DP=12;NP=3;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37453G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.1143C>T;ProtCh=p.N381=;VC=Silent;Gene=PRAMEF6/NM_001010889.2/1;CC=c.1143C>T;ProtCh=p.N381=;VC=Silent;Gene=PRAMEF27/NM_001300891.1/1;CC=c.1148C>T;ProtCh=p.T383I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:12:1:0:0:3,9:105,266:0.00,27.93:0.00,-0.60:0.00,28.53:0.00,1.00:0.00,0.83:0.00,1.00:23,30:0.0,114.7:0,0:0,0:110,108:41,41:7,20:-,NM_001013407.1(PRAMEF5) c.1143C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13368446 . A G 26 lc VT=SNV;PN=C;NN=C;SST=Single;DP=11;NP=3;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37454T>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.1144A>G;ProtCh=p.T382A;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.1144A>G;ProtCh=p.T382A;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.1149A>G;ProtCh=p.T383=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:11:1:0:0:3,8:100,252:0.00,26.19:0.00,-0.56:0.00,26.76:0.00,1.00:0.00,0.82:0.00,1.00:23,30:0.0,120.8:0,0:0,0:111,104:40,46:7,21:-,NM_001013407.1(PRAMEF5) c.1144A>G (p.Thr382Ala):-,NOT_FOUND:-,NOT_FOUND 1 13368530 . G C 9 lc VT=SNV;PN=C;NN=T;SST=Single;DP=15;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37538C>G;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.1228G>C;ProtCh=p.V410L;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.1228G>C;ProtCh=p.V410L;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.1233G>C;ProtCh=p.A411=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C,G:15:13:0:0:1,4,10:10,112,293:0.14,9.47,0.00:0.20,9.73,0.00:-0.06,-0.26,0.00:0.00,0.76,0.00:0.00,0.96,0.00:0.00,0.55,0.00:25,25,25:31.0,69.2,68.8:0,0,0:0,0,0:66,17,68:85,132,81:0,14,36:NM_001013407.1(PRAMEF5) c.1228G>C (p.Val410Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 13368549 rs201258581 C T 32 lc VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.016;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37557G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.1247C>T;ProtCh=p.P416L;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.1247C>T;ProtCh=p.P416L;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.1252C>T;ProtCh=p.P418S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:16:0:0:7,10:206,323:0.00,32.06:0.00,32.45:0.00,-0.39:0.00,1.00:0.00,1.00:0.00,0.73:25,27:89.0,53.0:0,0:0,0:50,46:99,103:29,38:-,NM_001013407.1(PRAMEF5) c.1247C>T (p.Pro416Leu):-,0.18:-,NOT_FOUND 1 13368628 rs199603036 G T 42 lc VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37636C>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.1326G>T;ProtCh=p.V442=;VC=Silent;Gene=PRAMEF6/NM_001010889.2/1;CC=c.1326G>T;ProtCh=p.V442=;VC=Silent;Gene=PRAMEF27/NM_001300891.1/1;CC=c.1331G>T;ProtCh=p.*444Lext*0;VC=Readthrough GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:26:26:0:0:1,10,15:7,278,421:-0.02,0.00,41.88:-0.02,0.00,41.88:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:13,25,27:17.0,62.4,67.9:0,0,0:0,0,0:38,74,76:113,76,74:0,27,16:-,NM_001013407.1(PRAMEF5) c.1326G>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13368672 . G A 21 lc VT=SNV;PN=T;NN=C;SST=Single;DP=21;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37680C>T;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.1370G>A;ProtCh=p.C457Y;VC=Missense;Gene=PRAMEF6/NM_001010889.2/1;CC=c.1370G>A;ProtCh=p.C457Y;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.1375G>A;ProtCh=p.A459T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:9,12:230,332:21.03,0.00:21.03,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:25,27:84.6,50.0:0,0:0,0:110,107:39,43:16,13:NM_001013407.1(PRAMEF5) c.1370G>A (p.Cys457Tyr),-:NOT_FOUND,-:NOT_FOUND,- 1 13368734 . A . . NT END=13386981;NT GT ./. 1 13368816 rs2359052 T A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37824A>T;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.*83T>A;VC=3UTR;Gene=PRAMEF6/NM_001010889.2/1;CC=c.*83T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:21:0:0:0:9,12:293,385:27.37,0.00:0.00,0.00:27.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:25,25:159.4,10.6:0,0:0,0:44,57:104,92:14,28:NM_001013407.1(PRAMEF5) c.*83T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 13368836 . A G 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37844T>C;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.*103A>G;VC=3UTR;Gene=PRAMEF6/NM_001010889.2/1;CC=c.*103A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:13,10:395,336:0.00,31.55:0.00,0.00:0.00,31.55:0.00,1.00:0.00,0.00:0.00,1.00:25,25:9.8,159.3:0,0:0,0:68,58:81,91:35,18:-,NM_001013407.1(PRAMEF5) c.*103A>G:-,NOT_FOUND:-,NOT_FOUND 1 13368887 . C T 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37895G>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.*154C>T;VC=3UTR;Gene=PRAMEF6/NM_001010889.2/1;CC=c.*154C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:0:0:0:12,11:400,341:0.00,32.43:0.00,0.00:0.00,32.43:0.00,1.00:0.00,0.00:0.00,1.00:27,25:16.2,156.9:0,0:0,0:80,104:69,47:34,25:-,NM_001013407.1(PRAMEF5) c.*154C>T:-,NOT_FOUND:-,NOT_FOUND 1 13368895 . G T 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37903C>A;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.*162G>T;VC=3UTR;Gene=PRAMEF6/NM_001010889.2/1;CC=c.*162G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:0:0:0:12,10:386,328:0.00,30.99:0.00,0.00:0.00,30.99:0.00,1.00:0.00,0.00:0.00,1.00:27,25:16.2,162.5:0,0:0,0:88,108:61,41:34,24:-,NM_001013407.1(PRAMEF5) c.*162G>T:-,NOT_FOUND:-,NOT_FOUND 1 13368896 . G C 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37904C>G;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.*163G>C;VC=3UTR;Gene=PRAMEF6/NM_001010889.2/1;CC=c.*163G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:22:0:0:0:10,12:303,385:28.49,0.00:0.00,0.00:28.49,0.00:1.00,0.00:0.00,0.00:1.00,0.00:25,27:162.5,16.2:0,0:0,0:109,89:40,60:24,34:NM_001013407.1(PRAMEF5) c.*163G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13368964 . T C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-37972A>G;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.*231T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:C,T:9:0:0:0:4,5:136,156:12.82,0.00:0.00,0.00:12.82,0.00:0.85,0.00:0.00,0.00:0.85,0.00:25,27:115.8,38.8:0,0:0,0:88,110:62,38:43,14:NM_001013407.1(PRAMEF5) c.*231T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13369013 . G C 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-38021C>G;VC=Intron;Gene=PRAMEF5/NM_001013407.2/1;CC=c.*280G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:6:0:0:0:2,4:71,137:6.40,0.00:0.00,0.00:6.40,0.00:0.42,0.00:0.00,0.00:0.42,0.00:25,27:86.0,0.0:0,0:0,0:94,87:56,62:9,51:NM_001013407.1(PRAMEF5) c.*280G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13380606 rs370225786 CA C 69 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=CA/0.2472,C/0.7528;NP=1150;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-49615delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:22:0:22:22:590:69.47:69.47:0.00:1.00:1.00:0.00:37:5.6:0:0:43:107:25:chr1 g.13380607delA (intergenic),chr1 g.13380607delA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13381066 rs201862351 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=476;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-50074G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:272:31.02:0.00:31.02:1.00:0.00:1.00:27:37.1:0:0:67:83:23:chr1 g.13381065C>T (intergenic),chr1 g.13381065C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13387544 . C . . NT END=13388457;NT GT ./. 1 13389034 . C . . NT END=13389415;NT GT ./. 1 13389703 . C . . NT END=13424002;NT GT ./. 1 13413621 rs199967945 C G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-82629G>C;VC=Intron;Gene=PRAMEF10/NM_001039361.4/1;CC=c.867-303C>G;VC=Intron;Gene=PRAMEF33P/NM_001291381.1/1;CC=c.867-303C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G:5:5:0:0:1,4:34,134:0.00,14.22:0.00,14.22:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:25,27:0.0,39.2:0,0:0,0:23,23:128,127:0,5:-,chr1 g.13413620C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 13413769 rs1984614 G A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=22;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-82777C>T;VC=Intron;Gene=PRAMEF10/NM_001039361.4/1;CC=c.867-155G>A;VC=Intron;Gene=PRAMEF33P/NM_001291381.1/1;CC=c.867-155G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:15:15:0:0:4,11:111,297:9.24,0.00:9.24,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:27,37:70.0,19.0:0,0:0,0:20,48:130,103:4,23:NM_001010890.1(PRAMEF9) c.-94-u7407G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 13413926 . A G 67 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;NP=396;PC=0.069;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-82934T>C;VC=Intron;Gene=PRAMEF10/NM_001039361.4/1;CC=c.869A>G;ProtCh=p.Y290C;VC=Missense;Gene=PRAMEF33P/NM_001291381.1/1;CC=c.869A>G;ProtCh=p.Y290C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:61:53:0:0:36,1,24:1016,8,731:0.00,-0.16,67.04:0.00,-0.11,56.16:0.00,-0.05,10.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,25,40:18.2,30.0,78.4:0,0,0:0,0,0:68,150,53:83,1,97:39,0,28:-,NM_001010890.1(PRAMEF9) c.-94-u7250A>G:-,NOT_FOUND:-,NOT_FOUND 1 13413961 rs200141404 G C 97 nt VT=SNV;PN=T;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-82969C>G;VC=Intron;Gene=PRAMEF10/NM_001039361.4/1;CC=c.904G>C;ProtCh=p.D302H;VC=Missense;Gene=PRAMEF33P/NM_001291381.1/1;CC=c.904G>C;ProtCh=p.D302H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:76:57:0:0:32,44:1044,1401:97.19,0.00:65.06,0.00:32.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:79.8,15.8:0,0:0,0:42,44:107,107:33,31:NM_001010890.1(PRAMEF9) c.-94-u7215G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 13414059 rs141192612 C T 258 nt VT=SNV;PN=C;NN=A;SST=Single;DP=168;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-83067G>A;VC=Intron;Gene=PRAMEF10/NM_001039361.4/1;CC=c.1002C>T;ProtCh=p.T334=;VC=Silent;Gene=PRAMEF33P/NM_001291381.1/1;CC=c.1002C>T;ProtCh=p.T334=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:168:123:0:0:87,81:2786,2703:0.00,258.41:0.00,173.90:0.00,84.51:0.00,1.00:0.00,1.00:0.00,1.00:60,43:9.1,46.9:0,0:0,0:72,36:67,115:33,30:-,NM_001010890.1(PRAMEF9) c.-94-u7117C>T:-,0.27:-,NOT_FOUND 1 13424296 . G . . NT END=13424966;NT GT ./. 1 13425549 . G . . NT END=13427297;NT GT ./. 1 13427860 . A . . NT END=13448028;NT GT ./. 1 13447968 rs376899105 T C 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=136;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-116976A>G;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.*82A>G;VC=3UTR;Gene=PRAMEF13/NM_001291380/0;CC=c.*82A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:239:27.24:27.24:0.00:1.00:1.00:0.00:27:75.9:0:0:130:21:19:NM_001024661.1(PRAMEF13) c.*82A>G,NM_001024661.1(PRAMEF13) c.*82A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13447998 rs145165227 C A 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=39;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117006G>T;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.*52G>T;VC=3UTR;Gene=PRAMEF13/NM_001291380/0;CC=c.*52G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:161:18.48:18.48:0.00:1.00:1.00:0.00:27:153.2:0:0:44:107:38:NM_001024661.1(PRAMEF13) c.*52G>T,NM_001024661.1(PRAMEF13) c.*52G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448034 rs201058086 G A 32 lc VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.004;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117042C>T;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.*16C>T;VC=3UTR;Gene=PRAMEF13/NM_001291380/0;CC=c.*16C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:273:31.55:31.55:0.00:1.00:1.00:0.00:27:170.1:0:0:34:117:12:NM_001024661.1(PRAMEF13) c.*16C>T,NM_001024661.1(PRAMEF13) c.*16C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448037 rs199521323 A G 33 lc VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.157;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117045T>C;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.*13T>C;VC=3UTR;Gene=PRAMEF13/NM_001291380/0;CC=c.*13T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:287:32.95:32.95:0.00:1.00:1.00:0.00:27:170.1:0:0:37:114:12:NM_001024661.1(PRAMEF13) c.*13T>C,NM_001024661.1(PRAMEF13) c.*13T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448042 rs370590461 C T 32 lc VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=5;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117050G>A;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.*8G>A;VC=3UTR;Gene=PRAMEF13/NM_001291380/0;CC=c.*8G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:274:31.62:31.62:0.00:1.00:1.00:0.00:27:170.1:0:0:42:109:12:NM_001024661.1(PRAMEF13) c.*8G>A,NM_001024661.1(PRAMEF13) c.*8G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448084 rs138924513 G A 48 lc VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1151;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117092C>T;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1391C>T;ProtCh=p.P464L;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.1391C>T;ProtCh=p.P464L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:414:47.57:47.57:0.00:1.00:1.00:0.00:27:157.5:0:0:68:81:17:NM_001024661.1(PRAMEF13) c.1391C>T (p.Pro464Leu),NM_001024661.1(PRAMEF13) c.1391C>T (p.Pro464Leu):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448116 rs55945833 A G 10 mq,lc VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=541;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117124T>C;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1359T>C;ProtCh=p.G453=;VC=Silent;Gene=PRAMEF13/NM_001291380/0;CC=c.1359T>C;ProtCh=p.G453=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G:16:16:0:0:11,5:329,121:0.00,10.15:0.00,10.15:0.00,0.00:0.00,0.88:0.00,0.88:0.00,0.00:27,12:138.9,152.2:0,0:0,0:85,83:66,64:39,15:-,NM_001024661.1(PRAMEF13) c.1359T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 13448120 rs534807490 A G 8 end;mq,lc VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117128T>C;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1355T>C;ProtCh=p.I452T;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.1355T>C;ProtCh=p.I452T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:22:22:0:0:18,4:545,103:0.00,7.69:0.00,7.69:0.00,0.00:0.00,0.70:0.00,0.70:0.00,0.00:27,19:139.9,25.8:0,0:0,0:79,1:70,149:41,0:-,NM_001024661.1(PRAMEF13) c.1355T>C (p.Ile452Thr):-,NOT_FOUND:-,NOT_FOUND 1 13448180 rs199555791 A G 188 sb,lc VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117188T>C;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1295T>C;ProtCh=p.L432P;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.1295T>C;ProtCh=p.L432P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:65:64:0:0:11,54:373,1751:0.00,187.93:0.00,188.38:0.00,-0.45:0.00,1.00:0.00,1.00:0.00,1.00:30,40:19.6,146.3:0,0:0,0:41,21:102,129:9,12:-,NM_001024661.1(PRAMEF13) c.1295T>C (p.Leu432Pro):-,NOT_FOUND:-,NOT_FOUND 1 13448184 . C T 173 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=67;NP=47;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117192G>A;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1291G>A;ProtCh=p.A431T;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.1291G>A;ProtCh=p.A431T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:67:66:0:0:2,11,54:20,380,1600:0.36,0.00,172.83:0.43,0.00,172.96:-0.07,0.00,-0.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:25,30,41:146.5,18.9,143.7:0,0,0:0,0,0:94,54,20:51,97,130:4,11,9:-,NM_001024661.1(PRAMEF13) c.1291G>A (p.Ala431Thr):-,NOT_FOUND:-,NOT_FOUND 1 13448185 rs574843281 G C 112 sb,lc VT=SNV;PN=C;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=4;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117193C>G;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1290C>G;ProtCh=p.F430L;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.1290C>G;ProtCh=p.F430L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:73:72:0:0:37,36:1164,1197:112.04,0.00:110.20,0.00:1.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,41:152.8,87.9:0,0:0,0:24,26:126,122:10,19:NM_001024661.1(PRAMEF13) c.1290C>G (p.Phe430Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 13448199 rs143762964 C T 362 lc VT=SNV;PN=T;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=443;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117207G>A;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1276G>A;ProtCh=p.D426N;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.1276G>A;ProtCh=p.D426N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,C,T:118:112:0:0:1,11,106:14,384,3279:0.16,0.00,362.33:-0.02,0.00,332.65:0.18,0.00,29.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:25,30,42:121.0,18.9,108.5:0,0,0:0,0,0:6,69,19:140,82,124:0,11,12:-,NM_001024661.1(PRAMEF13) c.1276G>A (p.Asp426Asn):-,NOT_FOUND:-,NOT_FOUND 1 13448283 rs80327699 A G 1522 lc VT=SNV;PN=A;NN=C;SST=Single;DP=394;DB;DBA=NA;PAF=NA;NP=3469;PC=0.206;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117291T>C;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1192T>C;ProtCh=p.L398=;VC=Silent;Gene=PRAMEF13/NM_001291380/0;CC=c.1192T>C;ProtCh=p.L398=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:394:314:0:0:394:13345:1521.96:985.50:536.46:1.00:1.00:1.00:51:77.0:0:0:51:97:27:NM_001024661.1(PRAMEF13) c.1192T>C (p.(=)),NM_001024661.1(PRAMEF13) c.1192T>C (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448351 rs71183793 T C 1205 lc VT=SNV;PN=G;NN=G;SST=Single;DP=330;DB;DBA=NA;PAF=NA;PC=0.065;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117359A>G;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.1124A>G;ProtCh=p.H375R;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.1124A>G;ProtCh=p.H375R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:330:208:0:0:329,1:10518,35:1204.83,0.00:579.38,0.00:625.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,27:71.4,0.0:0,0:0,0:104,62:43,88:18,0:NM_001024661.1(PRAMEF13) c.1124A>G (p.His375Arg),NM_001024661.1(PRAMEF13) c.1124A>G (p.His375Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448547 rs200801174 T C 264 lc VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=296;PC=0.002;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117555A>G;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.928A>G;ProtCh=p.M310V;VC=Missense;Gene=PRAMEF13/NM_001291380/0;CC=c.928A>G;ProtCh=p.M310V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:0:0:0:70:2304:263.66:0.00:263.66:1.00:0.00:1.00:27:105.9:0:0:82:69:30:NM_001024661.1(PRAMEF13) c.928A>G (p.Met310Val),NM_001024661.1(PRAMEF13) c.928A>G (p.Met310Val):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448548 rs201453721 G A 246 lc VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=274;PC=0.141;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117556C>T;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.927C>T;ProtCh=p.D309=;VC=Silent;Gene=PRAMEF13/NM_001291380/0;CC=c.927C>T;ProtCh=p.D309=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:0:0:0:70:2134:246.44:0.00:246.44:1.00:0.00:1.00:27:105.9:0:0:83:68:30:NM_001024661.1(PRAMEF13) c.927C>T (p.(=)),NM_001024661.1(PRAMEF13) c.927C>T (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448551 rs61778595 T C 254 lc VT=SNV;PN=C;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=269;Gene=PRAMEF18/NM_001099850.2/1;CC=c.288-117559A>G;VC=Intron;Gene=PRAMEF14/NM_001024661.2/1;CC=c.924A>G;ProtCh=p.E308=;VC=Silent;Gene=PRAMEF13/NM_001291380/0;CC=c.924A>G;ProtCh=p.E308=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:0:0:0:70:2212:254.23:0.00:254.23:1.00:0.00:1.00:27:105.9:0:0:86:65:30:NM_001024661.1(PRAMEF13) c.924A>G (p.(=)),NM_001024661.1(PRAMEF13) c.924A>G (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13448629 . G . . NT END=13449548;NT GT ./. 1 13450149 . A . . NT END=13450512;NT GT ./. 1 13450873 . A . . NT END=13474688;NT GT ./. 1 13475263 . C . . NT END=13476270;NT GT ./. 1 13476850 . C . . NT END=13477235;NT GT ./. 1 13477523 . C . . NT END=13495283;NT GT ./. 1 13495571 . G . . NT END=13495966;NT GT ./. 1 13496546 . G . . NT END=13497569;NT GT ./. 1 13498129 . T . . NT END=13521972;NT GT ./. 1 13522260 . G . . NT END=13523736;NT GT ./. 1 13523527 rs587754777 T TTGTG 9 idl,rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.009;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+174544_287+174545insCACA;VC=Intron;Gene=PRAMEF20/NM_001099852.2/1;CC=c.288-169_288-168insGTGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:T,TTGTG:7:9:5:0:4,3:103,160:0.00,8.90:0.00,8.99:0.00,-0.09:0.00,0.64:0.00,0.64:0.00,0.56:60,60:27.8,25.7:1,2:0,0:92,32:49,119:8,8:-,NM_001100114.1(PRAMEF21) c.288-210_288-209insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 13524316 . G . . NT END=13526311;NT GT ./. 1 13526874 . A . . NT END=13644799;NT GT ./. 1 13634669 . T C 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;NP=16;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+63403A>G;VC=Intron;Gene=PRAMEF10/NM_001039361.4/1;CC=c.867-52T>C;VC=Intron;Gene=PRAMEF33P/NM_001291381.1/1;CC=c.867-52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:123:14.21:14.21:0.00:1.00:1.00:0.00:40:56.2:0:0:18:132:10:NM_001098376.2(PRAMEF15) c.-94-u7304T>C,NM_001098376.2(PRAMEF15) c.-94-u7304T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13634687 rs566581137 C T 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=104;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+63385G>A;VC=Intron;Gene=PRAMEF10/NM_001039361.4/1;CC=c.867-34C>T;VC=Intron;Gene=PRAMEF33P/NM_001291381.1/1;CC=c.867-34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:12:12:0:0:3,9:95,294:0.00,30.76:0.00,27.31:0.00,3.45:0.00,1.00:0.00,1.00:0.00,0.99:40,40:14.3,47.3:0,0:0,0:4,13:147,133:3,12:-,NM_001098376.2(PRAMEF15) c.-94-u7286C>T:-,NOT_FOUND:-,NOT_FOUND 1 13645093 . G . . NT END=13645763;NT GT ./. 1 13645585 rs375566005 C CA 10 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=6;PC=0.005;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+52486_287+52487insT;VC=Intron;Gene=PRAMEF15/NM_001098376.2/1;CC=c.294-164_294-163insA;VC=Intron;Gene=PRAMEF27/NM_001300891.1/1;CC=c.294-164_294-163insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T,CA:30:31:7:0:24,1,5:742,8,184:0.00,-0.16,9.69:0.00,-0.16,9.69:0.00,0.00,0.00:0.00,0.00,0.79:0.00,0.00,0.98:0.00,0.00,0.44:27,27,27:23.9,160.0,90.4:0,1,2:0,0,0:25,38,72:123,113,76:15,0,25:-,NM_001098376.2(PRAMEF15) c.294-179_294-178insA:-,NOT_FOUND:-,NOT_FOUND 1 13645907 . G A 7 lc VT=SNV;PN=C;NN=G;SST=Single;DP=22;NP=1;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+52165C>T;VC=Intron;Gene=PRAMEF15/NM_001098376.2/1;CC=c.437G>A;ProtCh=p.R146Q;VC=Missense;Gene=PRAMEF27/NM_001300891.1/1;CC=c.437G>A;ProtCh=p.R146Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:22:0:0:0:4,18:99,563:7.30,0.00:0.00,0.00:7.30,0.00:0.70,0.00:0.00,0.00:0.70,0.00:36,27:62.8,7.4:0,0:0,0:64,96:85,53:4,27:NM_001098376.2(PRAMEF15) c.437G>A (p.Arg146Gln),-:NOT_FOUND,-:NOT_FOUND,- 1 13646346 . G . . NT END=13648094;NT GT ./. 1 13648657 . A . . NT END=13668883;NT GT ./. 1 13669484 . G . . NT END=13670403;NT GT ./. 1 13671004 . A . . NT END=13671367;NT GT ./. 1 13671728 . A . . NT END=13695524;NT GT ./. 1 13695600 rs535156217 G C 40 lc VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.009585,C/0.9904;NP=2;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2472C>G;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.1365C>G;ProtCh=p.V455=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:349:40.14:40.14:0.00:1.00:1.00:0.00:24:148.8:0:0:15:136:3:NM_001099790.1(PRAMEF19) c.1365C>G (p.(=)),NM_001099790.1(PRAMEF19) c.1365C>G (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13695603 rs548583032 G C 43 lc VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.009585,C/0.9904;NP=2;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2469C>G;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.1362C>G;ProtCh=p.P454=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:376:43.32:43.32:0.00:1.00:1.00:0.00:24:144.6:0:0:17:134:4:NM_001099790.1(PRAMEF19) c.1362C>G (p.(=)),NM_001099790.1(PRAMEF19) c.1362C>G (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13695621 . G T 67 lc VT=SNV;PN=T;NN=T;SST=Single;DP=20;NP=473;PC=0.001;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2451C>A;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.1344C>A;ProtCh=p.N448K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:20:0:0:20:577:67.17:67.17:0.00:1.00:1.00:0.00:27:115.0:0:0:30:120:9:NM_001099790.1(PRAMEF19) c.1344C>A (p.Asn448Lys),NM_001099790.1(PRAMEF19) c.1344C>A (p.Asn448Lys):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13695685 rs201167498 G A 267 lc VT=SNV;PN=C;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2387C>T;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.1280C>T;ProtCh=p.S427L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:73:73:0:0:73:2323:266.87:266.87:0.00:1.00:1.00:0.00:27:82.1:0:0:51:99:26:NM_001099790.1(PRAMEF19) c.1280C>T (p.Ser427Leu),NM_001099790.1(PRAMEF19) c.1280C>T (p.Ser427Leu):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13695787 rs202245256 C G 839 lc VT=SNV;PN=A;NN=C;SST=Single;DP=221;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2285G>C;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.1178G>C;ProtCh=p.G393A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:221:203:0:0:1,220:34,7348:1.59,839.02:1.59,653.46:0.00,185.55:0.00,1.00:0.00,1.00:0.00,1.00:24,44:65.0,75.1:0,0:0,0:62,34:88,111:0,22:NM_001099790.1(PRAMEF19) c.1178G>C (p.Gly393Ala),NM_001099790.1(PRAMEF19) c.1178G>C (p.Gly393Ala):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13695816 rs148990958 G A 1090 lc VT=SNV;PN=A;NN=C;SST=Single;DP=301;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2256C>T;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.1149C>T;ProtCh=p.C383=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:301:255:0:0:300,1:9478,21:1090.03,0.33:760.38,0.00:329.65,0.33:1.00,0.00:1.00,0.00:1.00,0.00:44,24:63.0,65.0:0,0:0,0:44,28:102,123:26,0:NM_001099790.1(PRAMEF19) c.1149C>T (p.(=)),NM_001099790.1(PRAMEF19) c.1149C>T (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13695974 rs142734546 T C 606 lc VT=SNV;PN=G;NN=A;SST=Single;DP=159;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2098A>G;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.991A>G;ProtCh=p.T331A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:159:48:0:0:159:5301:605.71:144.66:461.05:1.00:1.00:1.00:43:56.5:0:0:117:34:16:NM_001099790.1(PRAMEF19) c.991A>G (p.Thr331Ala),NM_001099790.1(PRAMEF19) c.991A>G (p.Thr331Ala):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13696022 rs201136502 A G 243 lc VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2050T>C;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.943T>C;ProtCh=p.W315R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:72:3:0:0:72:2092:243.22:8.42:234.80:1.00:1.00:1.00:40:131.3:0:0:101:47:47:NM_001099790.1(PRAMEF19) c.943T>C (p.Trp315Arg),NM_001099790.1(PRAMEF19) c.943T>C (p.Trp315Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13696029 rs2359295 A G 209 lc VT=SNV;PN=G;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.007588,G/0.9924;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2043T>C;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.936T>C;ProtCh=p.C312=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:147:A,G:56:0:0:0:1,55:10,1846:0.00,209.06:0.00,0.00:0.00,209.06:0.00,1.00:0.00,0.00:0.00,1.00:24,27:162.0,152.7:0,0:0,0:42,53:109,98:0,37:NM_001099790.1(PRAMEF19) c.936T>C (p.(=)),NM_001099790.1(PRAMEF19) c.936T>C (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13696047 rs2101624 A T 194 lc VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.006989,C/.,T/0.993;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2025T>A;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.918T>A;ProtCh=p.D306E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:T:54:0:0:0:54:1683:193.92:0.00:193.92:1.00:0.00:1.00:27:153.0:0:0:60:90:31:NM_001099790.1(PRAMEF19) c.918T>A (p.Asp306Glu),NM_001099790.1(PRAMEF19) c.918T>A (p.Asp306Glu):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13696054 rs200378484 G A 163 lc VT=SNV;PN=G;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+2018C>T;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.911C>T;ProtCh=p.S304F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A,T:49:0:0:0:48,1:1410,7:163.23,0.09:0.00,0.00:163.23,0.09:1.00,0.00:0.00,0.00:1.00,0.00:27,24:148.7,234.0:0,0:0,0:59,107:91,44:19,0:NM_001099790.1(PRAMEF19) c.911C>T (p.Ser304Phe),NM_001099790.1(PRAMEF19) c.911C>T (p.Ser304Phe):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13696090 rs731980 T C 196 lc VT=SNV;PN=C;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.004792,C/0.9952;PC=0.954;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+1982A>G;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.875A>G;ProtCh=p.K292R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:A,C,T:58:0:0:0:2,55,1:16,1721,10:0.34,195.83,0.00:0.00,0.00,0.00:0.34,195.83,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:24,27,27:149.5,126.7,152.0:0,0,0:0,0,0:101,73,102:49,78,48:1,31,0:NM_001099790.1(PRAMEF19) c.875A>G (p.Lys292Arg),NM_001099790.1(PRAMEF19) c.875A>G (p.Lys292Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 13696099 . C . . NT END=13697106;NT GT ./. 1 13696187 rs199573287 C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.6957,T/0.3043;NP=257;PC=0.057;Gene=PRAMEF18/NM_001099850.2/1;CC=c.287+1885G>A;VC=Intron;Gene=PRAMEF19/NM_001099790.2/1;CC=c.867-89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:0:0:0:25,9:709,268:0.00,22.58:0.00,0.00:0.00,22.58:0.00,0.99:0.00,0.00:0.00,0.99:27,27:49.2,62.3:0,0:0,0:112,118:35,33:27,14:-,NM_001099790.1(PRAMEF19) c.867-89G>A:-,NOT_FOUND:-,NOT_FOUND 1 13697686 . C . . NT END=13698071;NT GT ./. 1 13698359 . C . . NT END=13716117;NT GT ./. 1 13716405 . G . . NT END=13716800;NT GT ./. 1 13717380 . G . . NT END=13718403;NT GT ./. 1 13718963 . T . . NT END=13742811;NT GT ./. 1 13719052 rs141370897 T G 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.023;Gene=PRAMEF17/NM_001099851.3/1;CC=c.*90T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:45:1:0:0:24,21:786,696:76.51,0.00:1.75,0.00:74.75,0.00:1.00,0.00:0.69,0.00:1.00,0.00:49,48:40.2,13.2:0,1:0,0:91,115:59,36:39,18:NM_001099851.1(PRAMEF17) c.*90T>G,-:0.28,-:NOT_FOUND,- 1 13743099 . G . . NT END=13744596;NT GT ./. 1 13744712 rs199886862 G C 9 lc VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=30;Gene=PRAMEF20/NM_001099852.2/1;CC=c.403G>C;ProtCh=p.V135L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:C,G:4:0:0:0:3,1:83,35:8.73,0.00:0.00,0.00:8.73,0.00:0.85,0.00:0.00,0.00:0.85,0.00:40,21:37.7,0.0:0,0:0,0:23,81:128,70:19,0:NM_001099852.1(PRAMEF20) c.403G>C (p.Val135Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 13745176 . G . . NT END=13747171;NT GT ./. 1 13747734 . A . . NT END=13802313;NT GT ./. 1 13802224 rs3795750 G A 93 nt VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.6522,A/0.3478;Gene=LRRC38/NM_001010847.1/1;CC=c.*90C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:54:0:0:31,27:956,877:92.94,0.00:80.79,0.00:12.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.5,10.4:0,0:0,0:66,37:83,114:42,26:NM_001010847.1(LRRC38) c.*90C>T,-:0.39,-:NOT_FOUND,- 1 13802325 rs3013105 T C 182 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.5379,C/0.4621;PC=0.047;Gene=LRRC38/NM_001010847.1/1;CC=c.874A>G;ProtCh=p.K292E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:117:97:0:0:58,59:1892,1874:181.67,0.00:109.26,0.00:72.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.0,10.7:0,0:0,0:69,67:77,81:37,39:NM_001010847.1(LRRC38) c.874A>G (p.Lys292Glu),-:0.48,-:NOT_FOUND,- 1 13802437 rs3013106 G A 180 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.6753,A/0.3247;Gene=LRRC38/NM_001010847.1/1;CC=c.762C>T;ProtCh=p.S254=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:131:93:0:0:57,73,1:1916,2255,12:180.08,0.00,-0.12:73.09,0.00,-0.01:107.00,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.6,10.3,88.0:0,0,0:0,0,0:85,67,18:63,81,133:38,35,0:NM_001010847.1(LRRC38) c.762C>T (p.(=)),-:0.32,-:NOT_FOUND,- 1 13802568 . C . . NT END=13839457;NT GT ./. 1 13802818 rs2924855 T G 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6783,G/0.3217;Gene=LRRC38/NM_001010847.1/1;CC=c.632-251A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:G,T:11:0:0:0:4,7:131,237:11.88,0.00:0.00,0.00:11.88,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:50.5,28.1:0,0:0,0:131,102:20,49:7,16:NM_001010847.1(LRRC38) c.632-251A>C,-:0.34,-:NOT_FOUND,- 1 13839382 rs2990682 C G 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5853,G/0.4147;Gene=LRRC38/NM_001010847.1/1;CC=c.631+76G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:30:28:0:0:14,15,1:427,443,13:0.00,42.57,0.25:0.00,27.08,0.29:0.00,15.49,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:43.6,76.6,13.0:0,0,0:0,0,0:80,33,140:61,96,11:22,22,0:-,NM_001010847.1(LRRC38) c.631+76G>C:-,0.39:-,NOT_FOUND 1 13840089 . g . . NT END=13910300;NT GT ./. 1 13882346 rs35979056 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6739,G/0.3261 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:A,G:17:8:0:0:12,5:353,163:0.00,14.22:0.00,10.33:0.00,3.89:0.00,0.88:0.00,0.91:0.00,0.96:60,60:17.2,32.6:0,0:0,0:99,48:51,102:27,26:-,chr1 g.13882345A>G (intergenic):-,0.34:-,NOT_FOUND 1 13910417 rs355025 C T 137 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.4369,G/.,T/0.5631;Gene=PDPN/NM_006474.4/0;CC=c.117C>T;ProtCh=p.P39=;VC=Silent;Gene=PDPN/NM_198389.2/1;CC=c.117C>T;ProtCh=p.P39=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:75:0:0:48,43:1533,1441:0.00,137.26:0.00,74.84:0.00,62.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,40.5:0,0:0,0:52,57:93,87:33,34:-,NM_006474.4(PDPN) c.117C>T (p.(=)):-,0.53:-,0.405668 1 13910596 . G . . NT END=13910764;NT GT ./. 1 13910741 rs70984261 CGGA C 128 nt VT=DEL;SST=Single;DP=75;DB;DBA=NA;PAF=CGGA/0.7462,C/0.2538;DB;DBA=NA;PAF=CGGA/0.7462,C/0.2538;DB;DBA=NA;PAF=CGGA/0.7462,C/0.2538;NP=23;PC=0.069;Gene=PDPN/NM_006474.4/0;CC=c.295+154_295+156delGAG;VC=Intron;Gene=PDPN/NM_198389.2/1;CC=c.295+154_295+156delGAG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGGA,G,C:75:52:0:43:32,1,42:966,11,1303:0.00,-0.02,128.39:0.00,-0.11,60.99:0.00,0.08,67.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.2,111.0,5.8:0,0,0:0,0,0:55,110,67:85,-1,83:29,0,32:-,NM_006474.4(PDPN) c.295+147_295+149delGGA:-,0.24:-,NOT_FOUND 1 13910837 . G . . NT END=13911966;NT GT ./. 1 13910927 rs35716585 A G 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.7768,G/0.2232;Gene=PDPN/NM_006474.4/0;CC=c.295+332A>G;VC=Intron;Gene=PDPN/NM_198389.2/1;CC=c.295+332A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:2:0:0:16,22:505,718:0.00,71.10:0.00,3.34:0.00,67.76:0.00,1.00:0.00,0.85:0.00,1.00:60,60:16.2,38.6:0,0:0,0:126,119:24,32:16,12:-,NM_006474.4(PDPN) c.295+332A>G:-,0.21:-,NOT_FOUND 1 13912135 . G . . NT END=13922321;NT GT ./. 1 13922480 . g . . NT END=13933667;NT GT ./. 1 13933802 . G . . NT END=13936881;NT GT ./. 1 13936822 rs404658 G T 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.3221,T/0.6779;Gene=PDPN/NM_006474.4/0;CC=c.430-60G>T;VC=Intron;Gene=PDPN/NM_198389.2/1;CC=c.430-60G>T;VC=Intron;Gene=PDPN/NM_001006624.1/0;CC=c.76-60G>T;VC=Intron;Gene=PDPN/NM_001006625.1/0;CC=c.76-60G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:36:0:0:20,21:679,560:0.00,53.58:0.00,42.76:0.00,10.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.0,45.3:0,0:0,0:47,48:103,103:19,30:-,NM_006474.4(PDPN) c.430-60G>T:-,0.66:-,NOT_FOUND 1 13937012 . G . . NT END=13940181;NT GT ./. 1 13937089 rs2487643 G T 88 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.3383,T/0.6617;Gene=PDPN/NM_006474.4/0;CC=c.559+78G>T;VC=Intron;Gene=PDPN/NM_198389.2/1;CC=c.559+78G>T;VC=Intron;Gene=PDPN/NM_001006624.1/0;CC=c.205+78G>T;VC=Intron;Gene=PDPN/NM_001006625.1/0;CC=c.205+78G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:47:8:0:0:17,30:585,873:0.00,88.02:0.00,9.76:0.00,78.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,40.5:0,0:0,0:123,102:28,44:14,30:-,NM_006474.4(PDPN) c.559+78G>T:-,0.65:-,NOT_FOUND 1 13937281 rs4391657 T C 18 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1769,C/0.8231;Gene=PDPN/NM_006474.4/0;CC=c.559+270T>C;VC=Intron;Gene=PDPN/NM_198389.2/1;CC=c.559+270T>C;VC=Intron;Gene=PDPN/NM_001006624.1/0;CC=c.205+270T>C;VC=Intron;Gene=PDPN/NM_001006625.1/0;CC=c.205+270T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:157:18.08:1.89:16.20:1.00:1.00:1.00:60:35.6:0:0:123:25:21:NM_006474.4(PDPN) c.559+270T>C,NM_006474.4(PDPN) c.559+270T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 13940011 rs2275385 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8988,A/0.1012;Gene=PDPN/NM_006474.4/0;CC=c.560-171G>A;VC=Intron;Gene=PDPN/NM_198389.2/1;CC=c.560-171G>A;VC=Intron;Gene=PDPN/NM_001006624.1/0;CC=c.206-171G>A;VC=Intron;Gene=PDPN/NM_001006625.1/0;CC=c.206-171G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:5:0:0:3,2:99,68:9.87,0.00:9.87,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:33.0,31.5:0,0:0,0:24,125:126,26:4,7:NM_006474.4(PDPN) c.560-171G>A,-:0.1,-:NOT_FOUND,- 1 13940221 . G . . NT END=13940794;NT GT ./. 1 13940864 rs2486188 C G 121 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.01857,G/0.9814;PC=0.896;Gene=PDPN/NM_006474.4/0;CC=c.668C>G;ProtCh=p.A223G;VC=Missense;Gene=PDPN/NM_198389.2/1;CC=c.668C>G;ProtCh=p.A223G;VC=Missense;Gene=PDPN/NM_001006624.1/0;CC=c.314C>G;ProtCh=p.A105G;VC=Missense;Gene=PDPN/NM_001006625.1/0;CC=c.314C>G;ProtCh=p.A105G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:14:0:0:33:1058:121.50:36.82:84.68:1.00:1.00:1.00:60:37.4:0:0:70:80:30:NM_006474.4(PDPN) c.668C>G (p.Ala223Gly),NM_006474.4(PDPN) c.668C>G (p.Ala223Gly):0.97,0.97:0.966861,0.966861 1 13940907 . G . . NT END=13942399;NT GT ./. 1 13942407 . A . . NT END=14042100;NT GT ./. 1 14042110 . G . . NT END=14043914;NT GT ./. 1 14042309 rs7411176 G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8363,A/0.1637;Gene=PRDM2/NM_001135610.1/0;CC=c.9+200G>A;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.9+200G>A;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.9+200G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:7:0:0:0:3,4:86,138:7.95,0.00:0.00,0.00:7.95,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:37.3,9.2:0,0:0,0:132,88:19,61:0,21:NM_012231.4(PRDM2) c.9+200G>A,-:0.17,-:NOT_FOUND,- 1 14043921 . G . . NT END=14057494;NT GT ./. 1 14044110 rs4661441 C A 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.01697,A/0.983;Gene=PRDM2/NM_001135610.1/0;CC=c.9+2001C>A;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.9+2001C>A;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.9+2001C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:298:34.09:0.00:34.09:1.00:0.00:1.00:60:41.1:0:0:86:65:16:NM_012231.4(PRDM2) c.9+2001C>A,NM_012231.4(PRDM2) c.9+2001C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 14044176 rs75385581 CTT C 13 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;PC=0.005;Gene=PRDM2/NM_001135610.1/0;CC=c.9+2079_9+2080delTT;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.9+2079_9+2080delTT;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.9+2079_9+2080delTT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CTT,C:6:0:0:5:2,4:68,157:0.00,13.30:0.00,0.00:0.00,13.30:0.00,0.90:0.00,0.00:0.00,0.90:60,60:34.0,60.0:0,1:0,0:141,52:8,97:5,7:-,NM_012231.4(PRDM2) c.9+2068_9+2069delTT:-,NOT_FOUND:-,NOT_FOUND 1 14044200 rs4662020 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.05611,C/0.9439;Gene=PRDM2/NM_001135610.1/0;CC=c.9+2091T>C;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.9+2091T>C;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.9+2091T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:51.5:0:0:74:75:3:NM_012231.4(PRDM2) c.9+2091T>C,NM_012231.4(PRDM2) c.9+2091T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 14057613 . G . . NT END=14059273;NT GT ./. 1 14059378 . G . . NT END=14068499;NT GT ./. 1 14059395 rs33969518 T C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.8329,C/0.1671;Gene=PRDM2/NM_001135610.1/0;CC=c.231+18T>C;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.231+18T>C;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.231+18T>C;VC=Intron;DM=PRDM2/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:8:0:0:10,12:292,358:27.38,0.00:12.11,0.00:15.26,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:39.1,11.0:0,0:0,0:108,80:42,71:21,34:NM_012231.4(PRDM2) c.231+18T>C,-:0.18,-:0.164922,- 1 14068653 . G . . NT END=14075855;NT GT ./. 1 14075983 . G . . NT END=14095612;NT GT ./. 1 14076015 . G A 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;PC=0.020;Gene=PRDM2/NM_001135610.1/0;CC=c.511+33G>A;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.511+33G>A;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.511+33G>A;VC=Intron;Gene=PRDM2/NM_001007257.2/0;CC=c.-93+33G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:59:19:0:0:25,2,32:767,26,961:71.66,0.45,0.00:6.12,0.82,0.00:65.54,-0.38,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.6,93.0,9.8:0,0,0:0,0,0:87,109,87:54,32,56:24,12,34:NM_012231.4(PRDM2) c.511+33G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 14095669 . G . . NT END=14099572;NT GT ./. 1 14099684 . G . . NT END=14104912;NT GT ./. 1 14099763 rs10803426 C T 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6823,T/0.3177;PC=0.003;Gene=PRDM2/NM_001135610.1/0;CC=c.511+23781C>T;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.622+80C>T;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.622+80C>T;VC=Intron;Gene=PRDM2/NM_001007257.2/0;CC=c.19+80C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,T:15:1:0:0:9,6:290,147:0.00,13.14:0.00,3.08:0.00,10.07:0.00,0.96:0.00,0.60:0.00,1.00:60,60:3.4,49.8:0,0:0,0:98,72:53,78:46,18:-,NM_012231.4(PRDM2) c.622+80C>T:-,0.34:-,0.302453 1 14099898 rs1203677 A G 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6821,G/0.3179;Gene=PRDM2/NM_001135610.1/0;CC=c.511+23916A>G;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.622+215A>G;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.622+215A>G;VC=Intron;Gene=PRDM2/NM_001007257.2/0;CC=c.19+215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:0:0:0:1,3:32,79:0.00,8.33:0.00,0.00:0.00,8.33:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,46.7:0,0:0,0:123,79:27,72:0,11:-,NM_012231.4(PRDM2) c.622+215A>G:-,0.34:-,NOT_FOUND 1 14105139 rs2076324 T A 149 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.6288,A/0.3712;PC=0.931;Gene=PRDM2/NM_001135610.1/0;CC=c.511+29157T>A;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.849T>A;ProtCh=p.D283E;VC=Missense;Gene=PRDM2/NM_012231.4/1;CC=c.849T>A;ProtCh=p.D283E;VC=Missense;Gene=PRDM2/NM_001007257.2/0;CC=c.246T>A;ProtCh=p.D82E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:97:65:0:2:47,1,49:1557,13,1576:149.23,-0.02,0.00:68.29,0.07,0.00:80.94,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.8,68.0,6.1:0,0,0:0,0,0:62,144,64:89,5,87:41,0,41:NM_012231.4(PRDM2) c.849T>A (p.Asp283Glu),-:0.35,-:0.320621,- 1 14105298 rs1203678 G A 175 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.6837,A/0.3163;PC=0.011;Gene=PRDM2/NM_001135610.1/0;CC=c.511+29316G>A;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.1008G>A;ProtCh=p.E336=;VC=Silent;Gene=PRDM2/NM_012231.4/1;CC=c.1008G>A;ProtCh=p.E336=;VC=Silent;Gene=PRDM2/NM_001007257.2/0;CC=c.405G>A;ProtCh=p.E135=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:101:68:0:0:55,46:1790,1504:174.96,0.00:82.98,0.00:91.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.8,8.4:0,0:0,0:75,73:76,78:33,41:NM_012231.4(PRDM2) c.1008G>A (p.(=)),-:0.34,-:0.310395,- 1 14106394 rs59028030 A ACTC 109 PASS VT=INS;SST=Single;DP=111;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2357;PC=0.027;Gene=PRDM2/NM_001135610.1/0;CC=c.511+30415_511+30417dupCCT;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.2107_2109dupCCT;ProtCh=p.P703_A704insP;VC=InFrameIns;Gene=PRDM2/NM_012231.4/1;CC=c.2107_2109dupCCT;ProtCh=p.P703_A704insP;VC=InFrameIns;Gene=PRDM2/NM_001007257.2/0;CC=c.1504_1506dupCCT;ProtCh=p.P502_A503insP;VC=InFrameIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,ACTC:111:62:39:0:69,3,39:1949,76,1207:0.00,3.55,108.69:0.00,-0.41,55.57:0.00,3.96,53.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.8,35.7,9.9:0,0,0:0,0,0:82,0,69:65,149,79:35,0,38:-,NM_012231.4(PRDM2) c.2107_2109dupCCT (p.Pro703dup):-,0.51:-,0.469803 1 14108059 rs147285105 AAAG A 103 PASS VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=AAAG/0.9984,A/0.001597;NP=35;PC=1.000;Gene=PRDM2/NM_001135610.1/0;CC=c.511+32085_511+32087delAGA;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.3777_3779delAGA;ProtCh=p.E1261del;VC=InFrameDel;Gene=PRDM2/NM_012231.4/1;CC=c.3777_3779delAGA;ProtCh=p.E1261del;VC=InFrameDel;Gene=PRDM2/NM_001007257.2/0;CC=c.3174_3176delAGA;ProtCh=p.E1060del;VC=InFrameDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAG,A:82:43:0:35:47,35:1515,1107:0.00,103.09:0.00,40.42:0.00,62.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,6.9:0,0:0,0:84,90:65,48:37,32:-,NM_012231.4(PRDM2) c.3771AGA[2] (p.Glu1258[3]):-,NOT_FOUND:-,0.0052 1 14109114 rs1203651 A G 125 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.635,G/0.365;PC=0.009;Gene=PRDM2/NM_001135610.1/0;CC=c.511+33132A>G;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.4824A>G;ProtCh=p.S1608=;VC=Silent;Gene=PRDM2/NM_012231.4/1;CC=c.4824A>G;ProtCh=p.S1608=;VC=Silent;Gene=PRDM2/NM_001007257.2/0;CC=c.4221A>G;ProtCh=p.S1407=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:113:67:0:0:66,47:2026,1361:0.00,125.10:0.00,63.33:0.00,61.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,41.9:0,0:0,0:69,64:79,85:37,29:-,NM_012231.4(PRDM2) c.4824A>G (p.(=)):-,0.36:-,0.330847 1 14109327 . G . . NT END=14113009;NT GT ./. 1 14109408 rs35153743 CT C 36 sb;idl,rn VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=12;Gene=PRDM2/NM_001135610.1/0;CC=c.511+33442delT;VC=Intron;Gene=PRDM2/NM_015866.4/0;CC=c.5036+98delT;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.5036+98delT;VC=Intron;Gene=PRDM2/NM_001007257.2/0;CC=c.4433+98delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:74:38:4:23:53,3,4,14:1689,47,125,691:0.00,1.37,8.02,35.54:0.00,-0.27,3.24,1.62:0.00,1.64,4.78,33.92:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:19.5,56.3,10.8,20.8:0,0,0,8:0,0,0,0:110,44,96,80:32,87,54,67:27,30,22,25:-,NM_012231.4(PRDM2) c.5036+83delT:-,NOT_FOUND:-,NOT_FOUND 1 14114575 . T . . NT END=14142921;NT GT ./. 1 14143003 rs1046331 A G 240 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.1787,G/0.8213;Gene=PRDM2/NM_001135610.1/0;CC=c.593A>G;ProtCh=p.Q198R;VC=Missense;Gene=PRDM2/NM_012231.4/1;CC=c.5118A>G;ProtCh=p.P1706=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:183:C,G:67:40:0:0:1,66:8,2093:0.09,240.30:0.00,89.46:0.09,150.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,38.2:0,0:0,0:9,89:142,58:0,28:NM_012231.4(PRDM2) c.5118A>G (p.(=)),NM_012231.4(PRDM2) c.5118A>G (p.(=)):0.83,0.83:0.874443,0.874443 1 14143066 . G . . NT END=14149653;NT GT ./. 1 14149396 rs2744681 G A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2768,A/0.7232;Gene=PRDM2/NM_001135610.1/0;CC=c.656-258G>A;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.*24-258G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:112:13.06:13.06:0.00:1.00:1.00:0.00:60:88.0:0:0:44:106:5:NM_012231.4(PRDM2) c.*24-258G>A,NM_012231.4(PRDM2) c.*24-258G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 1 14149505 rs2697970 C A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2857,A/0.7143;Gene=PRDM2/NM_001135610.1/0;CC=c.656-149C>A;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.*24-149C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:129:14.81:11.03:3.78:1.00:1.00:1.00:60:54.0:0:0:51:98:23:NM_012231.4(PRDM2) c.*24-149C>A,NM_012231.4(PRDM2) c.*24-149C>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 14149601 rs2697969 C T 72 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.2857,T/0.7143;Gene=PRDM2/NM_001135610.1/0;CC=c.656-53C>T;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.*24-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C,T:21:18:0:0:1,20:35,646:0.00,72.39:0.00,49.92:0.00,22.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,73.1:0,0:0,0:91,42:59,107:0,13:NM_012231.4(PRDM2) c.*24-53C>T,NM_012231.4(PRDM2) c.*24-53C>T:0.74,0.74:0.745948,0.745948 1 14149622 rs2697968 T C 80 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.2853,C/0.7147;Gene=PRDM2/NM_001135610.1/0;CC=c.656-32T>C;VC=Intron;Gene=PRDM2/NM_012231.4/1;CC=c.*24-32T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C,T:24:22:0:0:23,1:709,36:80.05,0.00:55.04,0.00:25.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.4,0.0:0,0:0,0:59,112:90,38:26,0:NM_012231.4(PRDM2) c.*24-32T>C,NM_012231.4(PRDM2) c.*24-32T>C:0.74,0.74:0.751359,0.751359 1 14149680 . A . . NT END=14220130;NT GT ./. 1 14149844 rs1046333 T A 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.034;Gene=PRDM2/NM_001135610.1/0;CC=c.*165T>A;VC=3UTR;Gene=PRDM2/NM_012231.4/1;CC=c.*214T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:290:33.73:0.00:33.73:1.00:0.00:1.00:60:34.7:0:0:107:44:28:NM_012231.4(PRDM2) c.*214T>A,NM_012231.4(PRDM2) c.*214T>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 14219864 rs2206287 C A 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.09385,A/0.9062 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A,G:13:13:0:0:12,1:381,5:43.36,0.15:43.36,0.15:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:59.1,229.0:0,0:0,0:40,63:104,82:25,0:chr1 g.14219863C>A (intergenic),chr1 g.14219863C>A (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 1 14220252 . G . . NT END=14506929;NT GT ./. 1 14262395 rs7541726 G GTGTA 6 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2596,A/0.7404;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GTGTA:2:3:4:0:2:125:6.45:6.65:-0.20:0.51:0.89:0.89:60:107.5:2:0:93:28:20:chr1 g.14262395_14262396insTGTA (intergenic),chr1 g.14262395_14262396insTGTA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 14357130 . TACACACAC T 7 idl,nt VT=DEL;SST=Single;DP=4;NP=3;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T:2:2:0:4:2:133:7.15:1.79:5.36:0.51:0.79:0.89:60:0.0:2:0:65:85:17:chr1 g.14357131_14357138delACACACAC (intergenic),chr1 g.14357131_14357138delACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 14461508 rs67278004 A G 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3321,G/0.6679 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:3:0:0:3,2:99,69:0.00,6.39:0.00,3.42:0.00,2.97:0.00,0.46:0.00,0.80:0.00,0.46:60,60:4.3,17.5:3,2:0,0:118,95:32,55:12,7:-,chr1 g.14461507A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 14507088 . G . . NT END=14925212;NT GT ./. 1 14590116 rs56336875 G A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8405,A/0.1595;PC=0.265 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:4:2:0:0:2,2:69,57:6.65,0.00:3.63,0.00:3.02,0.00:0.51,0.00:0.79,0.00:0.51,0.00:60,60:42.0,17.0:0,0:0,0:98,42:35,108:18,5:chr1 g.14590115G>A (intergenic),-:0.16,-:NOT_FOUND,- 1 14602646 rs80165457 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9623,T/0.03774 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:4:4:0:0:1,3:32,100:0.00,10.45:0.00,5.23:0.00,5.23:0.00,0.85:0.00,0.85:0.00,0.85:3,60:0.0,71.0:0,0:0,0:94,97:57,51:0,7:-,chr1 g.14602645C>T (intergenic):-,0.04:-,NOT_FOUND 1 14681140 rs201729073 GACAC G 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=17;PC=0.001;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GACAC,G:4:5:0:3:2,2:67,100:0.00,6.41:0.00,4.68:0.00,1.74:0.00,0.46:0.00,0.46:0.00,0.60:60,60:84.0,6.0:0,1:0,0:103,90:33,60:25,5:-,chr1 g.14681141_14681144delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 14925031 rs1298341 T C 100 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:26:0:0:26:874:99.79:95.76:4.03:1.00:1.00:1.00:60:71.3:0:0:44:105:25:NM_201628.2(KAZN) c.-281-u182T>C,NM_201628.2(KAZN) c.-281-u182T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 14925105 rs1295787 T G 196 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.2067,G/0.7933 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:G:58:55:0:0:58:1691:196.20:146.20:50.00:1.00:1.00:1.00:60:51.0:0:0:46:95:26:NM_201628.2(KAZN) c.-281-u108T>G,NM_201628.2(KAZN) c.-281-u108T>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 14925720 . G . . NT END=15250624;NT GT ./. 1 15018543 rs34394371 TA T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TA/0.5737,T/0.4263;NP=440;PC=0.427;Gene=KAZN/NM_015209.2/0;CC=c.226+92836delA;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.226+92836delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TA,T:5:5:0:3:2,3:66,98:0.00,9.77:0.00,9.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,37.3:0,0:0,0:76,47:75,103:12,9:-,NM_201628.2(KAZN) c.226+92825delA:-,NOT_FOUND:-,NOT_FOUND 1 15018551 rs71510961 A T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5417,T/0.4583;PC=0.105;Gene=KAZN/NM_015209.2/0;CC=c.226+92832A>T;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.226+92832A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,T:5:5:0:0:2,3:68,102:0.00,10.17:0.00,10.17:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,37.3:0,0:0,0:84,54:67,96:12,9:-,NM_201628.2(KAZN) c.226+92832A>T:-,0.44:-,NOT_FOUND 1 15018660 rs3737686 C T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5849,T/0.4151;PC=1.000;Gene=KAZN/NM_015209.2/0;CC=c.226+92941C>T;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.226+92941C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:4:0:0:2,3:69,93:0.00,9.27:0.00,9.67:0.00,-0.40:0.00,0.78:0.00,0.97:0.00,0.73:60,60:22.0,32.7:0,0:0,0:22,16:128,135:9,10:-,NM_201628.2(KAZN) c.226+92941C>T:-,0.41:-,NOT_FOUND 1 15062752 rs4661301 T G 10 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8277,G/0.1723;Gene=KAZN/NM_015209.2/0;CC=c.226+137033T>G;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.226+137033T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:G,T:5:4:0:4:3,2:96,23:9.60,0.00:8.15,0.00:1.45,0.00:0.78,0.00:0.97,0.00:0.87,0.00:60,60:35.7,22.0:0,1:0,0:130,65:21,66:6,25:NM_201628.2(KAZN) c.226+137033T>G,-:0.55,-:NOT_FOUND,- 1 15160496 rs529323838 CACACACACAT C 8 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=5;Gene=KAZN/NM_015209.2/0;CC=c.227-126670_227-126661delCACACATACA;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.227-126670_227-126661delCACACATACA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:CACACACACAT,C:7:3:0:3:4,3:124,91:0.00,8.45:0.00,3.17:0.00,5.29:0.00,0.69:0.00,0.83:0.00,0.95:60,60:10.2,29.3:0,0:0,0:97,62:50,65:21,18:-,NM_201628.2(KAZN) c.227-126683_227-126674delACACACACAT:-,NOT_FOUND:-,NOT_FOUND 1 15212933 rs60005050 TAC T 17 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=242;PC=0.002;Gene=KAZN/NM_015209.2/0;CC=c.227-74221_227-74220delCA;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.227-74221_227-74220delCA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:6:5:185:17.08:9.30:7.79:0.99:1.00:1.00:60:10.4:1:0:61:84:6:NM_201628.2(KAZN) c.227-74246_227-74245delAC,NM_201628.2(KAZN) c.227-74246_227-74245delAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 15247649 rs55766387 A AACAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6342,AAC/0.3658,AACACAC/.;DB;DBA=NA;PAF=A/0.6342,AAC/0.3658,AACAC/.;NP=1;NP=11;NP=98;Gene=KAZN/NM_015209.2/0;CC=c.227-39496_227-39495insCACA;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.227-39496_227-39495insCACA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,AACAC:3:4:3:0:1,2:34,84:0.00,6.75:0.00,7.69:0.00,-0.94:0.00,0.51:0.00,0.51:0.00,0.67:60,70:41.0,31.5:0,1:0,0:77,54:73,72:0,25:-,NM_201628.2(KAZN) c.227-39531_227-39530insACAC:-,NOT_FOUND:-,NOT_FOUND 1 15250554 rs375957673 C G 20 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.910;Gene=KAZN/NM_015209.2/0;CC=c.227-36626C>G;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.227-36626C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:C,G:59:47:0:0:47,12:1497,268:0.00,19.64:0.00,-4.57:0.00,24.21:0.00,1.00:0.00,1.00:0.00,0.91:60,60:18.8,63.0:0,0:0,0:56,29:95,101:34,6:-,NM_201628.2(KAZN) c.227-36626C>G:-,NOT_FOUND:-,NOT_FOUND 1 15250559 . C G 20 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;Gene=KAZN/NM_015209.2/0;CC=c.227-36621C>G;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.227-36621C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:C,G:59:45:0:0:47,12:1450,275:0.00,20.36:0.00,-4.33:0.00,24.68:0.00,1.00:0.00,1.00:0.00,0.94:60,60:20.1,63.3:0,0:0,0:49,33:98,98:29,8:-,NM_201628.2(KAZN) c.227-36621C>G:-,NOT_FOUND:-,NOT_FOUND 1 15250565 . C G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;PC=0.892;Gene=KAZN/NM_015209.2/0;CC=c.227-36615C>G;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.227-36615C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,C,G:63:49:0:0:1,54,8:13,1601,143:-0.10,0.00,8.01:-0.31,0.00,-2.08:0.22,0.00,10.08:0.00,0.00,0.95:0.00,0.00,0.99:0.00,0.00,0.88:60,60,60:68.0,21.1,67.9:0,0,0:0,0,0:19,54,34:132,89,110:0,25,10:-,NM_201628.2(KAZN) c.227-36615C>G:-,NOT_FOUND:-,NOT_FOUND 1 15251069 . G . . NT END=15256295;NT GT ./. 1 15256541 . G . . NT END=15272414;NT GT ./. 1 15272453 . t . . NT END=15287179;NT GT ./. 1 15278736 rs58052996 C CTGTG 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;NP=3;Gene=KAZN/NM_015209.2/0;CC=c.227-8407_227-8406insGTGT;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.227-8407_227-8406insGTGT;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.209-8407_209-8406insGTGT;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.-56-8407_-56-8406insGTGT;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.-57+6104_-57+6105insGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CTGTG:6:6:4:0:2,4:69,127:0.00,12.95:0.00,9.59:0.00,3.36:0.00,0.93:0.00,0.93:0.00,0.97:60,60:29.5,12.8:0,0:0,0:103,17:38,131:5,2:-,NM_201628.2(KAZN) c.227-8444_227-8443insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 15287372 . G . . NT END=15361244;NT GT ./. 1 15361382 . G . . NT END=15370484;NT GT ./. 1 15370656 . G . . NT END=15382586;NT GT ./. 1 15370958 rs11585402 A G 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8219,G/0.1781;Gene=KAZN/NM_015209.2/0;CC=c.726+303A>G;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.726+303A>G;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.708+303A>G;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.444+303A>G;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.444+303A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:231:26.44:0.00:26.44:1.00:0.00:1.00:60:46.7:0:0:140:11:8:NM_201628.2(KAZN) c.726+303A>G,NM_201628.2(KAZN) c.726+303A>G:0.16,0.16:NOT_FOUND,NOT_FOUND 1 15382777 . G . . NT END=15386667;NT GT ./. 1 15383040 rs35389967 CTG C 12 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CTG/0.7254,C/0.2746;DB;DBA=NA;PAF=CTG/0.7254,C/0.2746;NP=2;Gene=KAZN/NM_015209.2/0;CC=c.916+266_916+267delGT;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.916+266_916+267delGT;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.898+266_898+267delGT;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.634+266_634+267delGT;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.634+266_634+267delGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:CTG,C:6:0:0:4:2,4:56,122:0.00,12.45:0.00,0.00:0.00,12.45:0.00,0.93:0.00,0.00:0.00,0.93:60,60:103.5,10.2:0,0:0,0:71,100:78,50:50,41:-,NM_201628.2(KAZN) c.916+265_916+266delTG:-,0.29:-,NOT_FOUND 1 15386628 rs2073091 T C 101 nt VT=SNV;PN=T;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.7284,C/0.2716;PC=0.001;Gene=KAZN/NM_015209.2/0;CC=c.917-40T>C;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.917-40T>C;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.899-40T>C;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.635-40T>C;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.635-40T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:82:76:0:0:32,50:1093,1492:100.80,0.00:77.32,0.00:23.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,8.6:0,0:0,0:57,44:88,103:26,24:NM_201628.2(KAZN) c.917-40T>C,-:0.27,-:0.147394,- 1 15386799 . G . . NT END=15390067;NT GT ./. 1 15389861 rs2076567 A G 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5447,G/0.4553;Gene=KAZN/NM_015209.2/0;CC=c.1048-207A>G;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.1048-207A>G;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.1030-207A>G;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.766-207A>G;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.766-207A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G:4:4:0:0:1,3:28,74:0.00,7.81:0.00,7.81:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,89.7:0,0:0,0:146,11:5,140:0,5:-,NM_201628.2(KAZN) c.1048-207A>G:-,0.41:-,NOT_FOUND 1 15389862 rs2076566 A C 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5447,C/0.4553;Gene=KAZN/NM_015209.2/0;CC=c.1048-206A>C;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.1048-206A>C;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.1030-206A>C;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.766-206A>C;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.766-206A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,C:4:4:0:0:1,3:29,88:0.00,9.25:0.00,9.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,89.7:0,0:0,0:147,12:4,139:0,5:-,NM_201628.2(KAZN) c.1048-206A>C:-,0.41:-,NOT_FOUND 1 15390119 . G . . NT END=15392125;NT GT ./. 1 15390145 rs2076565 A G 70 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5397,G/0.4603;Gene=KAZN/NM_015209.2/0;CC=c.1098+27A>G;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.1098+27A>G;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.1080+27A>G;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.816+27A>G;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.816+27A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:22:0:0:17,23:473,710:0.00,70.14:0.00,27.25:0.00,42.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,51.0:0,0:0,0:76,126:74,23:49,16:-,NM_201628.2(KAZN) c.1098+27A>G:-,0.45:-,0.354836 1 15390178 rs2076564 C T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.5673,T/0.4327;PC=0.002;Gene=KAZN/NM_015209.2/0;CC=c.1098+60C>T;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.1098+60C>T;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.1080+60C>T;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.816+60C>T;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.816+60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:8:0:0:14,10:455,282:0.00,25.87:0.00,6.02:0.00,19.84:0.00,1.00:0.00,0.98:0.00,1.00:60,60:13.6,75.6:0,0:0,0:80,108:66,42:26,30:-,NM_201628.2(KAZN) c.1098+60C>T:-,0.43:-,0.333333 1 15390211 rs2076563 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5627,A/0.4373;Gene=KAZN/NM_015209.2/0;CC=c.1098+93G>A;VC=Intron;Gene=KAZN/NM_201628.2/1;CC=c.1098+93G>A;VC=Intron;Gene=KAZN/NM_001018000.3/0;CC=c.1080+93G>A;VC=Intron;Gene=KAZN/NM_001018001.2/0;CC=c.816+93G>A;VC=Intron;Gene=KAZN/NM_001017999.2/0;CC=c.816+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:22:4:0:0:8,1,13:211,9,377:18.85,0.02,0.00:3.15,-0.04,0.00:15.70,0.06,0.00:0.99,0.00,0.00:0.84,0.00,0.00:1.00,0.00,0.00:60,60,60:70.1,26.0,14.3:0,0,0:0,0,0:86,12,93:65,139,58:52,0,29:NM_201628.2(KAZN) c.1098+93G>A,-:0.44,-:NOT_FOUND,- 1 15394652 . A . . NT END=15420675;NT GT ./. 1 15420616 rs6693320 G C 78 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.8215,A/.,C/0.1785;PC=0.001;Gene=KAZN/NM_201628.2/1;CC=c.1223-60G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:52:50:0:0:26,26:817,875:78.41,0.00:65.16,0.00:13.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,4.6:0,0:0,0:30,51:111,99:20,27:NM_201628.2(KAZN) c.1223-60G>C,-:0.19,-:NOT_FOUND,- 1 15420882 . G . . NT END=15421310;NT GT ./. 1 15421430 . G . . NT END=15428038;NT GT ./. 1 15421655 rs4661576 A G 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4916,G/0.5084;Gene=KAZN/NM_201628.2/1;CC=c.1547+226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:7:0:0:0:2,5:65,164:0.00,16.97:0.00,0.00:0.00,16.97:0.00,0.98:0.00,0.00:0.00,0.98:60,60:9.0,103.6:0,0:0,0:131,123:19,27:5,25:-,NM_201628.2(KAZN) c.1547+226A>G:-,0.52:-,NOT_FOUND 1 15427934 rs10927676 C T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.494,T/0.506;Gene=KAZN/NM_201628.2/1;CC=c.1548-105C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:19:0:0:12,8:371,230:0.00,20.96:0.00,17.68:0.00,3.28:0.00,0.99:0.00,1.00:0.00,0.60:60,60:22.5,55.4:0,0:0,0:57,73:93,77:48,23:-,NM_201628.2(KAZN) c.1548-105C>T:-,0.53:-,NOT_FOUND 1 15427982 rs502918 G A 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.402,A/0.598;Gene=KAZN/NM_201628.2/1;CC=c.1548-57G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:44:40:0:0:18,25,1:534,751,22:49.29,0.00,0.82:43.65,0.00,0.88:5.65,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.3,12.7,120.0:0,0,0:0,0,0:36,28,113:115,115,38:21,14,0:NM_201628.2(KAZN) c.1548-57G>A,-:0.62,-:NOT_FOUND,- 1 15428271 . G . . NT END=15429854;NT GT ./. 1 15428358 rs477953 T C 120 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.05591,C/0.9441;Gene=KAZN/NM_201628.2/1;CC=c.1779+88T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:1:0:0:32:1047:119.91:3.58:116.33:1.00:1.00:1.00:60:42.0:0:0:108:42:22:NM_201628.2(KAZN) c.1779+88T>C,NM_201628.2(KAZN) c.1779+88T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 15429652 rs555481 G A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.02476,A/0.9752;Gene=KAZN/NM_201628.2/1;CC=c.1780-203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,T:9:9:0:0:8,1:230,10:26.35,0.59:26.35,0.59:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:53.4,18.0:0,0:0,0:22,136:127,13:16,0:NM_201628.2(KAZN) c.1780-203G>A,NM_201628.2(KAZN) c.1780-203G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 15429696 rs555377 G C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4469,C/0.5531;Gene=KAZN/NM_201628.2/1;CC=c.1780-159G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:C,G:10:10:0:0:4,6:140,167:12.99,0.00:12.99,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:69.0,33.0:0,0:0,0:75,50:74,100:9,20:NM_201628.2(KAZN) c.1780-159G>C,-:0.58,-:NOT_FOUND,- 1 15429957 . G . . NT END=15430518;NT GT ./. 1 15430228 rs529587 G C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4471,C/0.5529;Gene=KAZN/NM_201628.2/1;CC=c.1881+272G>C;VC=Intron;DM=KAZN/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,G:7:6:0:0:4,3:140,77:13.84,0.00:14.21,0.00:-0.37,0.00:0.90,0.00:0.99,0.00:0.71,0.00:60,60:55.5,28.7:0,0:0,0:44,47:106,102:30,47:NM_201628.2(KAZN) c.1881+272G>C,-:0.58,-:NOT_FOUND,- 1 15430686 . G . . NT END=15438922;NT GT ./. 1 15430895 rs6695209 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8708,A/0.1292;Gene=KAZN/NM_201628.2/1;CC=c.2048+210G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:10:0:0:0:3,7:102,227:8.98,0.00:0.00,0.00:8.98,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:57.0,31.7:0,0:0,0:106,121:45,29:4,15:NM_201628.2(KAZN) c.2048+210G>A,-:0.11,-:NOT_FOUND,- 1 15430933 rs523125 G A 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3165,A/0.6835;Gene=KAZN/NM_201628.2/1;CC=c.2048+248G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:141:16.48:0.00:16.48:1.00:0.00:1.00:60:67.8:0:0:140:11:4:NM_201628.2(KAZN) c.2048+248G>A,NM_201628.2(KAZN) c.2048+248G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 15438825 rs139705142 ATGTGTGTGTGTGTG A 72 idl,nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=KAZN/NM_201628.2/1;CC=c.2049-66_2049-53delGTGTGTGTGTGTGT;VC=Intron;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:ATGTGTGTGTGTGTG,A:30:38:0:31:7,23:224,905:0.00,71.62:0.00,71.62:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.3,20.9:0,8:0,0:130,44:21,107:3,22:-,NR_027136.1(C1orf126) n.6421CA[15]:-,NOT_FOUND:-,NOT_FOUND 1 15439038 . G . . NT END=15440966;NT GT ./. 1 15439083 rs140963536 A AAGGTCTTTTTTTTCTTCTCCCAGCGGC 24 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.5649,AAGGCCTTTTTTTTCTTCTCCCAGCGGC/.,AAGGTCTTTTTTTTCTTCTCCCAGAGGC/.,AAGGTCTTTTTTTTCTTCTCCCAGCGGC/0.4351;NP=1;Gene=KAZN/NM_201628.2/1;CC=c.2163+58_2163+59insTCTTCTCCCAGCGGCAGGTCTTTTTTT;VC=Intron;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAGGTCTTTTTTTTCTTCTCCCAGCGGC:41:7:9:0:32,9:1000,294:0.00,24.33:0.00,-0.48:0.00,24.81:0.00,0.99:0.00,0.79:0.00,1.00:60,60:8.5,0.0:0,0:0,0:120,49:13,102:11,6:-,NR_027136.1(C1orf126) n.6206_6207insGCCGCTGGGAGAAGAAAAAAAAGACCT:-,NOT_FOUND:-,NOT_FOUND 1 15439227 rs12046842 C A 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5799,A/0.4201;Gene=KAZN/NM_201628.2/1;CC=c.2163+190C>A;VC=Intron;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,T:10:0:0:0:9,1:255,7:29.37,0.32:0.00,0.00:29.37,0.32:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.9,176.0:0,0:0,0:94,105:57,46:35,0:NR_027136.1(C1orf126) n.6063G>T,NR_027136.1(C1orf126) n.6063G>T:0.41,0.41:NOT_FOUND,NOT_FOUND 1 15439233 rs150305993 G GC 11 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9081,GC/0.09185,GCC/.;NP=4;Gene=KAZN/NM_201628.2/1;CC=c.2163+201dupC;VC=Intron;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,GC:9:0:4:0:5,4:101,117:0.00,10.96:0.00,0.00:0.00,10.96:0.00,0.85:0.00,0.00:0.00,0.85:60,60:68.8,36.5:1,0:0,0:95,123:56,27:7,14:-,NR_027136.1(C1orf126) n.6056dupG:-,0.08:-,NOT_FOUND 1 15441132 . G . . NT END=15494969;NT GT ./. 1 15441275 rs1055412 C T 68 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.3972,T/0.6028;Gene=KAZN/NM_201628.2/1;CC=c.*144C>T;VC=3UTR;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:0:0:0:13,21:384,681:0.00,68.26:0.00,0.00:0.00,68.26:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.5,46.8:0,0:0,0:124,103:27,48:18,26:-,NR_027136.1(C1orf126) n.4015G>A:-,0.61:-,NOT_FOUND 1 15457320 rs72640752 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.506,G/0.494;NP=2;NP=281;NP=5;NP=56;PC=0.001;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:4:0:0:1,4:35,140:0.00,14.82:0.00,11.54:0.00,3.28:0.00,0.96:0.00,1.00:0.00,0.99:60,60:35.0,71.8:1,1:0,0:58,73:93,78:0,11:-,NR_027136.1(C1orf126) n.175-6451G>C:-,NOT_FOUND:-,NOT_FOUND 1 15457322 rs59472069 C G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3886,G/0.6114;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=249;NP=5;NP=5;NP=76;PC=0.001;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:178:20.19:12.13:8.05:1.00:1.00:1.00:60:64.4:0:0:74:77:14:NR_027136.1(C1orf126) n.175-6453G>C,NR_027136.1(C1orf126) n.175-6453G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 15459178 rs4661322 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.06969,C/0.9303;PC=0.001;Gene=TMEM51-AS1/NR_027136.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:140:16.37:0.00:16.37:1.00:0.00:1.00:60:41.0:0:0:67:83:4:NR_027136.1(C1orf126) n.175-8309A>G,NR_027136.1(C1orf126) n.175-8309A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 15495110 rs78615461 A G 157 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.7147,G/0.2853;Gene=TMEM51/NM_001136216.1/0;CC=c.-267+15830A>G;VC=Intron;Gene=TMEM51/NM_001136217.1/0;CC=c.-194+15830A>G;VC=Intron;Gene=TMEM51/NM_001136218.1/1;CC=c.-267+14660A>G;VC=Intron;Gene=TMEM51/NM_018022.2/0;CC=c.-194+14660A>G;VC=Intron;Gene=C1orf195/NM_001278502.1/1;CC=c.98+2567T>C;VC=Intron;Gene=C1orf195/NM_001278501.1/0;CC=c.262T>C;ProtCh=p.Y88H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:52:0:0:33,48:1086,1574:0.00,156.51:0.00,84.13:0.00,72.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,43.2:0,0:0,0:68,79:76,65:49,40:-,NM_001136216.1(TMEM51) c.-267+15830A>G:-,0.27:-,NOT_FOUND 1 15495274 . c . . NT END=15541583;NT GT ./. 1 15541407 rs3753316 C T 125 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.5877,T/0.4123;Gene=TMEM51/NM_001136216.1/0;CC=c.-177C>T;VC=5UTR;Gene=TMEM51/NM_001136217.1/0;CC=c.-177C>T;VC=5UTR;Gene=TMEM51/NM_001136218.1/1;CC=c.-177C>T;VC=5UTR;Gene=TMEM51/NM_018022.2/0;CC=c.-177C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:33:0:0:33:1097:125.38:125.38:0.00:1.00:1.00:0.00:60:47.3:0:0:47:104:26:NM_001136216.1(TMEM51) c.-177C>T,NM_001136216.1(TMEM51) c.-177C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 15541537 rs3753314 C T 337 nt VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.1428,T/0.8572;PC=0.001;Gene=TMEM51/NM_001136216.1/0;CC=c.-47C>T;VC=5UTR;Gene=TMEM51/NM_001136217.1/0;CC=c.-47C>T;VC=5UTR;Gene=TMEM51/NM_001136218.1/1;CC=c.-47C>T;VC=5UTR;Gene=TMEM51/NM_018022.2/0;CC=c.-47C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:97:85:0:0:97:2916:337.41:252.90:84.51:1.00:1.00:1.00:60:41.1:0:0:36:112:23:NM_001136216.1(TMEM51) c.=,NM_001136216.1(TMEM51) c.=:0.87,0.87:0.813271,0.813271 1 15541928 . G . . NT END=15545821;NT GT ./. 1 15542097 rs3820063 T C 68 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5042,C/0.4958;Gene=TMEM51/NM_001136216.1/0;CC=c.344+170T>C;VC=Intron;Gene=TMEM51/NM_001136217.1/0;CC=c.344+170T>C;VC=Intron;Gene=TMEM51/NM_001136218.1/1;CC=c.344+170T>C;VC=Intron;Gene=TMEM51/NM_018022.2/0;CC=c.344+170T>C;VC=Intron;DM=TMEM51/TMEM51;DM=TMEM51/TMEM51 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:586:67.63:0.00:67.63:1.00:0.00:1.00:60:50.2:0:0:105:46:33:NM_001136216.1(TMEM51) c.344+170T>C,NM_001136216.1(TMEM51) c.344+170T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 15546240 . A . . NT END=15578280;NT GT ./. 1 15578114 rs1780609 C T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8015,T/0.1985;Gene=FHAD1/NM_052929.1/1;CC=c.-14-153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:12:12:0:0:9,3:314,91:0.00,7.60:0.00,7.60:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:1.1,118.7:0,0:0,0:71,23:80,127:44,8:-,NM_052929.1(FHAD1) c.-14-153C>T:-,0.22:-,NOT_FOUND 1 15578122 rs1752001 T C 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8017,C/0.1983;PC=0.001;Gene=FHAD1/NM_052929.1/1;CC=c.-14-145T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:15:15:0:0:4,11:112,345:9.33,0.00:9.33,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:60,60:105.8,0.9:0,0:0,0:27,56:123,94:14,37:NM_052929.1(FHAD1) c.-14-145T>C,-:0.22,-:NOT_FOUND,- 1 15578195 rs1622686 T C 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4972,C/0.5028;PC=0.002;Gene=FHAD1/NM_052929.1/1;CC=c.-14-72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:23:0:0:13,13:411,406:39.46,0.00:30.90,0.00:8.56,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:69.2,5.5:0,0:0,0:31,22:120,128:18,18:NM_052929.1(FHAD1) c.-14-72T>C,-:0.47,-:NOT_FOUND,- 1 15578374 . G . . NT END=15598818;NT GT ./. 1 15599026 . G . . NT END=15615894;NT GT ./. 1 15599160 rs6703580 G T 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3289,T/0.6711;PC=0.001;Gene=FHAD1/NM_052929.1/1;CC=c.300+135G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:0:0:0:11,17:343,557:0.00,55.68:0.00,0.00:0.00,55.68:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.8,68.4:0,0:0,0:98,97:53,54:23,24:-,NM_052929.1(FHAD1) c.300+135G>T:-,0.7:-,NOT_FOUND 1 15599164 rs6703582 G C 52 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3289,C/0.6711;Gene=FHAD1/NM_052929.1/1;CC=c.300+139G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:0:0:0:17,11:516,310:51.58,0.00:0.00,0.00:51.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:68.4,6.8:0,0:0,0:101,102:50,49:24,23:NM_052929.1(FHAD1) c.300+139G>C,-:0.7,-:NOT_FOUND,- 1 15616163 . G . . NT END=15623179;NT GT ./. 1 15616183 rs487338 T C 221 nt VT=SNV;PN=T;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=T/0.5381,C/0.4619;Gene=FHAD1/NM_052929.1/1;CC=c.568+21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:137:65:0:0:73,64:2272,2088:220.77,0.00:74.64,0.00:146.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,4.6:0,0:0,0:104,82:43,56:27,30:NM_052929.1(FHAD1) c.568+21T>C,-:0.43,-:NOT_FOUND,- 1 15623290 . G . . NT END=15627700;NT GT ./. 1 15627938 . G . . NT END=15635108;NT GT ./. 1 15634796 rs7550951 A G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7823,G/0.2177;PC=0.007;Gene=FHAD1/NM_052929.1/1;CC=c.916-313A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:122:14.57:14.57:0.00:1.00:1.00:0.00:60:54.4:0:0:71:80:41:NM_052929.1(FHAD1) c.916-313A>G,NM_052929.1(FHAD1) c.916-313A>G:0.18,0.18:NOT_FOUND,NOT_FOUND 1 15635233 . G . . NT END=15639552;NT GT ./. 1 15639581 rs10489962 A G 414 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.9487,G/0.05132;PC=0.003;Gene=FHAD1/NM_052929.1/1;CC=c.1068A>G;ProtCh=p.I356M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:112:76:0:0:1,111:33,3634:0.00,413.72:0.00,221.51:0.00,192.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,41.8:0,0:0,0:28,82:123,68:0,36:NM_052929.1(FHAD1) c.1068A>G (p.Ile356Met),NM_052929.1(FHAD1) c.1068A>G (p.Ile356Met):0.05,0.05:0.061761,0.061761 1 15639684 . G . . NT END=15642873;NT GT ./. 1 15639839 . T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=0.001;Gene=FHAD1/NM_052929.1/1;CC=c.1170+156T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:49:6.67:0.00:6.67:1.00:0.00:1.00:60:38.0:0:0:18:128:3:NM_052929.1(FHAD1) c.1170+156T>G,NM_052929.1(FHAD1) c.1170+156T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 15642964 . G . . NT END=15644319;NT GT ./. 1 15644425 . G . . NT END=15650947;NT GT ./. 1 15651056 . G . . NT END=15653554;NT GT ./. 1 15653639 . G . . NT END=15654772;NT GT ./. 1 15654737 . CT C 18 idl,rn VT=DEL;SST=Single;DP=56;NP=8;Gene=FHAD1/NM_052929.1/1;CC=c.1558-22delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:CT,G,T,I,C:54:43:6:8:40,1,1,4,8:1171,11,34,189,240:0.00,-0.11,1.82,8.84,18.40:0.00,-0.00,-0.21,6.40,10.95:0.00,-0.11,2.03,2.45,7.45:0.00,0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00,0.95:60,60,60,60,60:51.6,57.0,80.0,109.2,45.8:0,0,1,2,0:0,0,0,0,0:49,122,44,34,23:88,29,107,106,113:32,0,0,29,12:-,NM_052929.1(FHAD1) c.1558-35delT:-,NOT_FOUND:-,NOT_FOUND 1 15654759 . C T 14 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;NP=4;Gene=FHAD1/NM_052929.1/1;CC=c.1558-14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,G,T:59:42:0:0:48,1,10:1450,10,207:0.00,-0.20,14.04:0.00,-0.04,15.77:0.00,-0.16,-1.73:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:35.5,190.0,104.3:0,0,0:0,0,0:34,47,86:110,104,35:27,0,19:-,NM_052929.1(FHAD1) c.1558-14C>T:-,NOT_FOUND:-,NOT_FOUND 1 15654926 . G . . NT END=15655841;NT GT ./. 1 15656038 . G . . NT END=15665976;NT GT ./. 1 15666048 . G . . NT END=15668231;NT GT ./. 1 15668276 rs763821 G A 120 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.6542,A/0.3458;PC=0.878;Gene=FHAD1/NM_052929.1/1;CC=c.1951G>A;ProtCh=p.G651R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:72:0:0:38,51:1279,1557:119.68,0.00:76.58,0.00:43.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,5.1:0,0:0,0:46,79:99,65:25,32:NM_052929.1(FHAD1) c.1951G>A (p.Gly651Arg),-:0.32,-:0.431888,- 1 15668390 . G . . NT END=15671578;NT GT ./. 1 15668631 rs7528747 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7951,A/0.2049;Gene=FHAD1/NM_052929.1/1;CC=c.2064+242G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:6:0:0:0:3,3:99,102:9.52,0.00:0.00,0.00:9.52,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:36.7,4.3:0,0:0,0:91,129:60,22:11,8:NM_052929.1(FHAD1) c.2064+242G>A,-:0.2,-:NOT_FOUND,- 1 15671687 . G . . NT END=15671911;NT GT ./. 1 15672020 . G . . NT END=15675537;NT GT ./. 1 15675646 . G . . NT END=15679372;NT GT ./. 1 15679481 . G . . NT END=15684605;NT GT ./. 1 15684780 . G . . NT END=15686973;NT GT ./. 1 15687200 . G . . NT END=15689137;NT GT ./. 1 15689223 . G . . NT END=15692322;NT GT ./. 1 15692430 . G . . NT END=15693958;NT GT ./. 1 15694119 . G . . NT END=15695865;NT GT ./. 1 15695999 . G . . NT END=15700997;NT GT ./. 1 15701128 . G . . NT END=15702098;NT GT ./. 1 15701356 rs10159174 G T 66 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4758,C/0.5242,T/.;Gene=FHAD1/NM_052929.1/1;CC=c.3511+229G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C,T:19:0:0:1:1,18:12,577:0.52,65.86:0.00,0.00:0.52,65.86:0.00,1.00:0.00,0.00:0.00,1.00:55,60:207.0,91.3:1,4:0,0:69,131:49,17:0,10:NM_052929.1(FHAD1) c.3511+229G>T,NM_052929.1(FHAD1) c.3511+229G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 15701360 rs10927777 G T 13 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1;NP=12;PC=0.006;Gene=FHAD1/NM_052929.1/1;CC=c.3511+233G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:G,T,I:19:0:1:1:13,5,1:429,157,33:0.00,13.46,2.20:0.00,0.00,0.00:0.00,13.46,2.20:0.00,0.86,0.00:0.00,0.00,0.00:0.00,0.86,0.00:60,60,60:65.5,151.8,33.0:1,3,0:0,0,0:139,130,122:9,21,29:6,9,0:-,NM_052929.1(FHAD1) c.3511+233G>T:-,NOT_FOUND:-,NOT_FOUND 1 15702227 . G . . NT END=15707196;NT GT ./. 1 15707293 . G . . NT END=15707726;NT GT ./. 1 15707948 . G . . NT END=15708523;NT GT ./. 1 15708274 rs113585544 C T 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9898,T/0.01018;Gene=FHAD1/NM_052929.1/1;CC=c.3957-250C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:9:8:0:0:3,6:102,186:0.00,18.97:0.00,15.37:0.00,3.60:0.00,0.99:0.00,1.00:0.00,0.78:60,60:0.0,36.5:0,0:0,0:13,80:138,69:10,43:-,NM_052929.1(FHAD1) c.3957-250C>T:-,0.01:-,NOT_FOUND 1 15708324 rs143238554 TC T 30 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TC/0.9984,T/0.001597;NP=5;Gene=FHAD1/NM_052929.1/1;CC=c.3957-197delC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:18:17:0:10:8,10:272,311:0.00,30.50:0.00,28.38:0.00,2.12:0.00,1.00:0.00,1.00:0.00,0.70:60,60:19.0,2.1:0,0:0,0:41,21:107,128:35,12:-,NM_052929.1(FHAD1) c.3957-199delC:-,NOT_FOUND:-,NOT_FOUND 1 15708690 . G . . NT END=15714546;NT GT ./. 1 15714628 . G . . NT END=15714841;NT GT ./. 1 15714831 rs6669577 C T 51 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=FHAD1/NM_052929.1/1;CC=c.4122+6142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:19:7:0:0:2,17:65,461:0.00,51.34:0.00,18.66:0.00,32.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.0,39.5:0,0:0,0:126,8:16,122:17,6:-,NM_052929.1(FHAD1) c.4122+6142C>T:-,0.51:-,NOT_FOUND 1 15714919 . G . . NT END=15717705;NT GT ./. 1 15717760 . G . . NT END=15723792;NT GT ./. 1 15723843 rs2294490 G A 169 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.6893,A/0.3107;PC=0.039;Gene=FHAD1/NM_052929.1/1;CC=c.4173G>A;ProtCh=p.L1391=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:34:0:0:46:1474:169.31:87.91:81.40:1.00:1.00:1.00:60:34.5:0:0:77:68:33:NM_052929.1(FHAD1) c.4173G>A (p.(=)),NM_052929.1(FHAD1) c.4173G>A (p.(=)):0.34,0.34:0.364652,0.364652 1 15723910 . A . . NT END=15736467;NT GT ./. 1 15724033 rs2253372 A G 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.255,G/0.745;PC=0.001;Gene=FHAD1/NM_052929.1/1;CC=c.*124A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:364:41.64:0.00:41.64:1.00:0.00:1.00:60:40.1:0:0:111:40:30:NM_052929.1(FHAD1) c.*124A>G,NM_052929.1(FHAD1) c.*124A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 15736776 . G . . NT END=15752366;NT GT ./. 1 15752515 . G . . NT END=15753645;NT GT ./. 1 15752716 rs3765369 C T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.849,T/0.151;Gene=EFHD2/NM_024329.5/1;CC=c.456+202C>T;VC=Intron;DM=EFHD2/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:0:0:0:8,9:248,276:0.00,26.77:0.00,0.00:0.00,26.77:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.1,46.9:0,0:0,0:100,83:50,68:15,29:-,NM_024329.5(EFHD2) c.456+202C>T:-,0.17:-,NOT_FOUND 1 15753781 . G . . NT END=15755088;NT GT ./. 1 15755221 . C . . NT END=15764960;NT GT ./. 1 15765001 . G . . NT END=15766795;NT GT ./. 1 15766888 . G . . NT END=15766988;NT GT ./. 1 15767036 rs497078 C T 108 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;Gene=CTRC/NM_007272.2/1;CC=c.180C>T;ProtCh=p.G60=;VC=Silent;DM=CTRC/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:46:0:0:40,35:1233,1142:0.00,108.46:0.00,35.05:0.00,73.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,39.7:0,0:0,0:87,87:63,57:30,30:-,NM_007272.2(CTRC) c.180C>T (p.(=)):-,0.09:-,0.120022 1 15767087 . G . . NT END=15768942;NT GT ./. 1 15768733 rs2549316 A G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4623,G/0.5377;Gene=CTRC/NM_007272.2/1;CC=c.231-210A>G;VC=Intron;DM=CTRC/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:A,G:20:20:0:0:13,7:431,187:0.00,16.37:0.00,16.37:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:1.2,59.4:0,0:0,0:45,25:106,126:19,11:-,NM_007272.2(CTRC) c.231-210A>G:-,0.53:-,NOT_FOUND 1 15769069 . G . . NT END=15769913;NT GT ./. 1 15769139 rs3765373 G A 127 nt VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.8171,A/0.1829;Gene=CTRC/NM_007272.2/1;CC=c.356+71G>A;VC=Intron;DM=CTRC/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:31:0:0:40,28:1275,934:126.55,0.00:39.77,0.00:86.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,11.3:0,0:0,0:122,89:28,61:20,32:NM_007272.2(CTRC) c.356+71G>A,-:0.18,-:NOT_FOUND,- 1 15769876 rs397730661 G GC 180 nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2930;PC=0.001;Gene=CTRC/NM_007272.2/1;CC=c.357-36dupC;VC=Intron;DM=CTRC/Trypsin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G,GC:53:43:51:0:2,51:57,1596:0.00,180.21:0.00,117.37:0.00,62.83:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,9.7:0,0:0,0:150,62:1,89:0,31:NM_007272.2(CTRC) c.357-38_357-37insC,NM_007272.2(CTRC) c.357-38_357-37insC:1,1:0.999521,0.999521 1 15770051 . G . . NT END=15771100;NT GT ./. 1 15770102 rs545634 G A 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.9271,A/0.07288,C/.;Gene=CTRC/NM_007272.2/1;CC=c.493+52G>A;VC=Intron;DM=CTRC/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:25:0:0:28,29:908,920:86.98,0.00:22.59,0.00:64.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,9.3:0,0:0,0:107,102:41,44:17,26:NM_007272.2(CTRC) c.493+52G>A,-:0.07,-:0.116062,- 1 15771247 . G . . NT END=15772091;NT GT ./. 1 15772245 . G . . NT END=15773069;NT GT ./. 1 15772454 rs481407 C CATTT 14 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5192,CATTT/0.4808;DB;DBA=NA;PAF=NA;NP=13;PC=0.004;Gene=CTRC/NM_007272.2/1;CC=c.792+213_792+214insTATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:C,CATTT:10:0:5:0:5,5:177,143:0.00,13.67:0.00,0.00:0.00,13.67:0.00,0.95:0.00,0.00:0.00,0.95:60,60:0.0,48.8:0,0:0,0:72,76:79,74:11,31:-,NM_007272.2(CTRC) c.792+210_792+211insATTT:-,0.54:-,NOT_FOUND 1 15772933 rs555015 A G 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4555,G/0.5445;PC=0.001;Gene=CTRC/NM_007272.2/1;CC=c.793-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,G:15:15:0:0:5,10:164,303:0.00,30.91:0.00,27.40:0.00,3.51:0.00,1.00:0.00,1.00:0.00,0.97:60,60:9.0,38.8:0,0:0,0:56,30:95,121:14,27:-,NM_007272.2(CTRC) c.793-137A>G:-,0.54:-,NOT_FOUND 1 15773085 . T . . NT END=15783248;NT GT ./. 1 15783096 rs5772641 GA G 53 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=GA/0.1727,G/0.8273;NP=865;PC=0.003;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:GA,T,G:17:17:0:15:1,1,15:34,12,471:0.00,0.53,52.50:0.00,0.53,52.50:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:0.0,58.0,3.0:0,0,0:0,0,0:108,144,64:43,6,87:0,0,28:NM_033440.2(CELA2A) c.-26-u126delA,NM_033440.2(CELA2A) c.-26-u126delA:0.94,0.94:NOT_FOUND,NOT_FOUND 1 15783117 rs5772642 C CA 61 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.03415,CA/0.9659;DB;DBA=NA;PAF=C/0.03415,CA/0.9659;NP=2008;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C,CA:18:18:17:0:1,17:26,544:0.00,60.83:0.00,60.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,7.1:0,0:0,0:148,69:2,81:0,23:NM_033440.2(CELA2A) c.-26-u106_-26-u105insA,NM_033440.2(CELA2A) c.-26-u106_-26-u105insA:0.96,0.96:NOT_FOUND,NOT_FOUND 1 15783222 rs2303195 C T 111 nt VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.9245,T/0.07548;Gene=CELA2A/NM_033440.2/1;CC=c.-26-1C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:57:0:0:38,36:1214,1165:0.00,111.37:0.00,62.16:0.00,49.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,67.1:0,0:0,0:43,44:95,105:17,19:-,NM_033440.2(CELA2A) c.-26-u1C>T:-,0.08:-,0.12302 1 15783289 . G . . NT END=15783580;NT GT ./. 1 15783296 rs144878061 C G 122 nt VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.9912,G/0.008786;Gene=CELA2A/NM_033440.2/1;CC=c.40+8C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:76:53:0:0:38,38:1256,1264:0.00,121.65:0.00,47.76:0.00,73.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,60.5:0,0:0,0:89,97:47,44:25,23:-,NM_033440.2(CELA2A) c.40+8C>G:-,0.01:-,0.029448 1 15783670 . G . . NT END=15788055;NT GT ./. 1 15788154 . G . . NT END=15789227;NT GT ./. 1 15788269 rs3737696 A C 100 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.3233,C/0.6767;Gene=CELA2A/NM_033440.2/1;CC=c.227+116A>C;VC=Intron;DM=CELA2A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:0:0:0:30:854:99.55:0.00:99.55:1.00:0.00:1.00:60:46.4:0:0:87:62:34:NM_033440.2(CELA2A) c.227+116A>C,NM_033440.2(CELA2A) c.227+116A>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 15789357 . G . . NT END=15789880;NT GT ./. 1 15789733 rs3815792 A G 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.6663,G/0.3337;Gene=CELA2A/NM_033440.2/1;CC=c.357-148A>G;VC=Intron;DM=CELA2A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:39:0:0:25,15:768,439:0.00,39.58:0.00,38.20:0.00,1.39:0.00,1.00:0.00,1.00:0.00,0.67:60,60:11.4,32.6:0,0:0,0:36,43:115,107:29,21:-,NM_033440.2(CELA2A) c.357-148A>G:-,0.34:-,NOT_FOUND 1 15790018 . G . . NT END=15792493;NT GT ./. 1 15790366 rs7555994 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1532,C/0.8468;Gene=CELA2A/NM_033440.2/1;CC=c.493+349T>C;VC=Intron;DM=CELA2A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:183:21.16:0.00:21.16:1.00:0.00:1.00:60:34.5:0:0:117:33:17:NM_033440.2(CELA2A) c.493+349T>C,NM_033440.2(CELA2A) c.493+349T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 15792426 rs2901964 C G 107 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.6927,G/0.3073,T/.;Gene=CELA2A/NM_033440.2/1;CC=c.494-68C>G;VC=Intron;DM=CELA2A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:63:58:0:0:30,33:931,1105:0.00,107.34:0.00,90.20:0.00,17.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,38.2:0,0:0,0:55,43:91,106:28,16:-,NM_033440.2(CELA2A) c.494-68C>G:-,0.29:-,NOT_FOUND 1 15792640 . G . . NT END=15793880;NT GT ./. 1 15792800 rs60125415 G A 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8153,A/0.1847;Gene=CELA2A/NM_033440.2/1;CC=c.639+161G>A;VC=Intron;DM=CELA2A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:0:0:0:13,8:418,275:41.94,0.00:0.00,0.00:41.94,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.5,10.2:0,0:0,0:115,84:36,66:14,28:NM_033440.2(CELA2A) c.639+161G>A,-:0.18,-:NOT_FOUND,- 1 15793913 rs1042010 G A 154 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.8201,A/0.1799;Gene=CELA2A/NM_033440.2/1;CC=c.672G>A;ProtCh=p.A224=;VC=Silent;DM=CELA2A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:76:0:0:48,46:1591,1418:153.78,0.00:84.67,0.00:69.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,3.7:0,0:0,0:68,63:83,82:31,35:NM_033440.2(CELA2A) c.672G>A (p.(=)),-:0.17,-:0.217592,- 1 15794034 . G . . NT END=15798484;NT GT ./. 1 15798239 rs4661631 C A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4547,A/0.5453;Gene=CELA2A/NM_033440.2/1;CC=c.793-246C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,C:6:6:0:0:3,3:89,103:8.52,0.00:8.52,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:50,60:117.7,10.7:0,0:0,0:12,39:139,112:1,20:NM_033440.2(CELA2A) c.793-246C>A,-:0.49,-:NOT_FOUND,- 1 15798316 rs4661632 C T 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5383,T/0.4617;Gene=CELA2A/NM_033440.2/1;CC=c.793-169C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,C,T:16:16:0:0:1,8,7:11,261,177:0.27,0.00,16.48:0.27,0.00,16.48:0.00,0.00,0.00:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.00:60,60,60:53.0,18.0,87.0:0,0,0:0,0,0:33,42,77:118,105,73:0,40,13:-,NM_033440.2(CELA2A) c.793-169C>T:-,0.42:-,NOT_FOUND 1 15798317 rs4661633 A G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5379,G/0.4621;Gene=CELA2A/NM_033440.2/1;CC=c.793-168A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:16:0:0:9,7:262,215:0.00,20.09:0.00,20.09:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:29.9,76.7:0,0:0,0:46,47:100,104:44,31:-,NM_033440.2(CELA2A) c.793-168A>G:-,0.42:-,NOT_FOUND 1 15798503 . C . . NT END=15802620;NT GT ./. 1 15802468 rs141820246 GA G 37 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=GA/0.9463,G/0.05371;NP=273;PC=0.002;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:31:31:1:13:17,1,13:523,32,395:0.00,1.94,36.78:0.00,1.94,36.78:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:10.4,0.0,5.7:0,0,0:0,0,0:49,2,46:101,149,105:30,0,38:-,NM_015849.2(CELA2B) c.-25-u127delA:-,NOT_FOUND:-,NOT_FOUND 1 15802661 . G . . NT END=15802951;NT GT ./. 1 15803041 . G . . NT END=15807592;NT GT ./. 1 15807691 . G . . NT END=15808759;NT GT ./. 1 15808506 rs35206351 TAG T 11 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TAG/0.6735,T/0.3265;NP=63;PC=0.032;Gene=CELA2B/NM_015849.2/1;CC=c.228-251_228-250delAG;VC=Intron;DM=CELA2B/Trypsin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TAG,T:6:6:0:4:2,4:68,110:0.00,11.23:0.00,11.23:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,32.5:0,0:0,0:35,53:115,97:2,26:-,NM_015849.2(CELA2B) c.228-253_228-252delAG:-,0.34:-,NOT_FOUND 1 15808702 rs4661635 C T 129 nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.6851,T/0.3149;Gene=CELA2B/NM_015849.2/1;CC=c.228-58C>T;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:60:0:0:28,42:960,1294:0.00,128.94:0.00,83.46:0.00,45.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,66.5:0,0:0,0:46,33:103,116:32,21:-,NM_015849.2(CELA2B) c.228-58C>T:-,0.32:-,NOT_FOUND 1 15808767 rs3820071 G A 181 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.6735,A/0.3265;Gene=CELA2B/NM_015849.2/1;CC=c.235G>A;ProtCh=p.G79R;VC=Missense;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:102:75:0:0:55,1,46:1845,11,1347:180.57,-0.07,0.00:92.77,0.01,0.00:87.80,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:64.4,78.0,12.5:0,0,0:0,0,0:66,93,52:81,58,99:31,0,28:NM_015849.2(CELA2B) c.235G>A (p.Gly79Arg),-:0.34,-:0.250807,- 1 15808872 rs3766160 G A 144 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.6849,A/0.3151;Gene=CELA2B/NM_015849.2/1;CC=c.340G>A;ProtCh=p.D114N;VC=Missense;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:64:0:0:47,53:1518,1708:144.22,0.00:59.28,0.00:84.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.4,8.7:0,0:0,0:81,58:70,86:36,33:NM_015849.2(CELA2B) c.340G>A (p.Asp114Asn),-:0.32,-:0.250807,- 1 15808889 . G . . NT END=15809758;NT GT ./. 1 15809036 rs3766161 G A 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6693,A/0.3307;Gene=CELA2B/NM_015849.2/1;CC=c.356+148G>A;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:9,11:268,335:25.11,0.00:0.00,0.00:25.11,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.2,4.3:0,0:0,0:91,77:59,74:34,16:NM_015849.2(CELA2B) c.356+148G>A,-:0.34,-:NOT_FOUND,- 1 15809428 rs12139377 C T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6733,T/0.3267;NP=5;PC=0.003;Gene=CELA2B/NM_015849.2/1;CC=c.357-331C>T;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G,T:6:6:0:0:2,1,3:34,7,84:0.00,0.30,8.32:0.00,0.30,8.32:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:38.0,7.0,39.3:0,0,0:0,0,0:111,133,60:39,18,91:5,0,40:-,NM_015849.2(CELA2B) c.357-331C>T:-,NOT_FOUND:-,NOT_FOUND 1 15809436 rs398102465 A C,AC 16 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4343,AC/0.5657;DB;DBA=NA;PAF=A/0.4343,AC/0.5657;NP=20;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:32:C,AC:7:7:5:0:2,5:38,139:3.65,15.55:3.65,15.55:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:26.0,36.0:0,0:0,0:75,114:76,36:75,27:NM_015849.2(CELA2B) c.357-323A>C,NM_015849.2(CELA2B) c.357-323_357-322insC:NOT_FOUND,0.56:NOT_FOUND,NOT_FOUND 1 15809601 rs74539603 C T 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.7885,T/0.2115;PC=0.012;Gene=CELA2B/NM_015849.2/1;CC=c.357-158C>T;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:37:37:0:0:19,1,17:561,5,570:0.00,-0.17,54.30:0.00,-0.17,54.30:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:31.2,176.0,54.8:0,0,0:0,0,0:59,56,59:92,95,92:42,0,38:-,NM_015849.2(CELA2B) c.357-158C>T:-,0.21:-,NOT_FOUND 1 15809706 rs12129367 T C 377 nt VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.4339,C/0.5661;PC=0.004;Gene=CELA2B/NM_015849.2/1;CC=c.357-53T>C;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:97:79:0:0:97:3308:377.06:252.93:124.12:1.00:1.00:1.00:60:41.0:0:0:65:83:27:NM_015849.2(CELA2B) c.357-53T>C,NM_015849.2(CELA2B) c.357-53T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 15809876 rs10927792 G A 235 lc VT=SNV;PN=C;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.6538,A/0.3462;Gene=CELA2B/NM_015849.2/1;CC=c.474G>A;ProtCh=p.T158=;VC=Silent;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:141:81:0:0:73,68:2426,2079:234.98,0.00:94.66,0.00:140.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,10.8:0,0:0,0:70,73:77,75:32,38:NM_015849.2(CELA2B) c.474G>A (p.(=)),-:0.35,-:0.271538,- 1 15809896 . G . . NT END=15812395;NT GT ./. 1 15810172 rs75461554 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7883,T/0.2117;PC=0.003;Gene=CELA2B/NM_015849.2/1;CC=c.493+277C>T;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:8:0:0:0:5,3:134,104:0.00,9.56:0.00,0.00:0.00,9.56:0.00,0.67:0.00,0.00:0.00,0.67:60,60:45.0,34.7:0,0:0,0:44,91:107,59:9,15:-,NM_015849.2(CELA2B) c.493+277C>T:-,0.21:-,NOT_FOUND 1 15810252 rs10803385 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6737,A/0.3263;PC=0.001;Gene=CELA2B/NM_015849.2/1;CC=c.493+357G>A;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,G:5:0:0:0:4,1:129,28:13.72,0.00:0.00,0.00:13.72,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:56.2,25.0:0,0:0,0:123,75:27,76:5,0:NM_015849.2(CELA2B) c.493+357G>A,-:0.34,-:NOT_FOUND,- 1 15812432 rs6429745 A G 413 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.006789,G/0.9932;NP=3465;Gene=CELA2B/NM_015849.2/1;CC=c.530A>G;ProtCh=p.Q177R;VC=Missense;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:118:90:0:0:1,116,1:11,3593,11:0.10,413.49,0.10:0.00,217.94,0.10:0.10,195.55,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:231.0,36.8,52.0:0,0,0:0,0,0:34,55,37:109,94,113:0,30,0:NM_015849.2(CELA2B) c.=,NM_015849.2(CELA2B) c.=:0.99,0.99:0.992849,0.992849 1 15812542 . G . . NT END=15813779;NT GT ./. 1 15812665 rs2861484 G T 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8413,T/0.1587;Gene=CELA2B/NM_015849.2/1;CC=c.639+124G>T;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:1:0:0:15,12:466,401:0.00,37.77:0.00,1.81:0.00,35.96:0.00,1.00:0.00,0.63:0.00,1.00:60,60:10.2,49.2:0,0:0,0:128,114:22,37:16,22:-,NM_015849.2(CELA2B) c.639+124G>T:-,0.16:-,NOT_FOUND 1 15813751 rs2011159 C T 163 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=3466;Gene=CELA2B/NM_015849.2/1;CC=c.640-29C>T;VC=Intron;DM=CELA2B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:T:46:44:0:0:46:1411:162.89:129.45:33.44:1.00:1.00:1.00:60:37.5:0:0:36:103:28:NM_015849.2(CELA2B) c.640-29C>T,NM_015849.2(CELA2B) c.640-29C>T:1,1:0.999923,0.999923 1 15813933 . G . . NT END=15817789;NT GT ./. 1 15813969 rs3737704 A C 176 nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.3484,C/0.6516,T/.;Gene=CELA2B/NM_015849.2/1;CC=c.792+37A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:C:48:24:0:0:48:1529:175.70:59.35:116.35:1.00:1.00:1.00:60:42.1:0:0:91:57:22:NM_015849.2(CELA2B) c.792+37A>C,NM_015849.2(CELA2B) c.792+37A>C:0.66,0.66:0.653852,0.653852 1 15817519 rs111689880 AG A 8 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AG/0.8339,A/0.1661;NP=152;Gene=CELA2B/NM_015849.2/1;CC=c.793-266delG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AG,A:5:5:0:3:2,3:65,81:0.00,8.07:0.00,8.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,10.7:0,0:0,0:77,61:73,88:13,11:-,NM_015849.2(CELA2B) c.793-270delG:-,0.17:-,NOT_FOUND 1 15817663 rs28451126 T C 51 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.9948,C/0.005192;NP=89;PC=0.020;Gene=CELA2B/NM_015849.2/1;CC=c.793-127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:33:0:0:18,15:525,492:51.15,0.00:47.93,0.00:3.22,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:40.7,13.3:0,0:0,0:26,29:124,122:17,25:NM_015849.2(CELA2B) c.793-127T>C,-:0.01,-:NOT_FOUND,- 1 15817808 . C . . NT END=15819437;NT GT ./. 1 15819768 rs884363 C A 452 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.366,A/0.634;Gene=CASP9/NM_001229.4/0;CC=c.1159-238G>T;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.709-238G>T;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.910-238G>T;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:123:81:0:0:123:3937:452.18:252.36:199.81:1.00:1.00:1.00:60:51.9:0:0:64:83:40:NM_001229.3(CASP9) c.1159-238G>T,NM_001229.3(CASP9) c.1159-238G>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 15819827 rs4646103 T A 205 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.7642,A/0.2358;Gene=CASP9/NM_001229.4/0;CC=c.1159-297A>T;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.709-297A>T;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.910-297A>T;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:118:71:0:0:62,56:2105,1812:204.67,0.00:91.02,0.00:113.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.8,33.8:0,0:0,0:76,83:74,59:30,27:NM_001229.3(CASP9) c.1159-297A>T,-:0.24,-:NOT_FOUND,- 1 15820041 rs4646100 C T 107 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.654,T/0.346;Gene=CASP9/NM_001229.4/0;CC=c.1158+346G>A;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.708+346G>A;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.909+346G>A;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:75:47:0:0:38,1,36:1268,12,1117:0.00,-0.02,106.61:0.00,-0.11,54.36:0.00,0.09,52.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.8,79.0,35.2:0,0,0:0,0,0:81,117,80:68,33,64:38,0,40:-,NM_001229.3(CASP9) c.1158+346G>A:-,0.36:-,NOT_FOUND 1 15820307 rs397776921 A AC 162 PASS VT=INS;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.7642,AC/0.2358;DB;DBA=NA;PAF=A/0.7642,AC/0.2358;NP=297;Gene=CASP9/NM_001229.4/0;CC=c.1158+79dupG;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.708+79dupG;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.909+79dupG;VC=Intron;DM=CASP9/Peptidase_C14;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AC:117:83:53:0:64,53:1913,1715:0.00,161.88:0.00,95.93:0.00,65.95:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.3,5.0:1,0:0,0:96,98:55,53:33,28:-,NM_001229.3(CASP9) c.1158+79_1158+80insG:-,0.24:-,NOT_FOUND 1 15820497 . C . . NT END=15821767;NT GT ./. 1 15820576 rs2020900 T A 334 nt VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.3656,A/0.6344;Gene=CASP9/NM_001229.4/0;CC=c.1049-80A>T;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.599-80A>T;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.800-80A>T;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:40:0:0:90:2909:333.68:89.25:244.42:1.00:1.00:1.00:60:75.4:0:0:102:44:30:NM_001229.3(CASP9) c.1049-80A>T,NM_001229.3(CASP9) c.1049-80A>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 15820607 rs2020895 A G 232 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.4058,G/0.5942;Gene=CASP9/NM_001229.4/0;CC=c.1049-111T>C;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.599-111T>C;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.800-111T>C;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:A,G:61:19:0:0:1,60:10,2053:0.00,232.20:0.00,41.71:0.00,190.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:122.0,97.2:0,0:0,0:34,111:111,38:0,22:NM_001229.3(CASP9) c.1049-111T>C,NM_001229.3(CASP9) c.1049-111T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 1 15820618 rs2020898 A G 207 nt VT=SNV;PN=A;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.3656,G/0.6344;PC=0.001;Gene=CASP9/NM_001229.4/0;CC=c.1049-122T>C;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.599-122T>C;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.800-122T>C;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:G:55:17:0:0:55:1811:207.20:36.88:170.32:1.00:1.00:1.00:60:103.2:0:0:113:37:26:NM_001229.3(CASP9) c.1049-122T>C,NM_001229.3(CASP9) c.1049-122T>C:0.64,0.64:NOT_FOUND,NOT_FOUND 1 15820758 rs4646096 A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7642,G/0.2358;PC=0.057;Gene=CASP9/NM_001229.4/0;CC=c.1049-262T>C;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.599-262T>C;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.800-262T>C;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:12:0:0:0:9,3:259,102:0.00,8.71:0.00,0.00:0.00,8.71:0.00,0.59:0.00,0.00:0.00,0.59:60,60:5.1,44.0:0,0:0,0:71,125:79,26:25,18:-,NM_001229.3(CASP9) c.1049-262T>C:-,0.24:-,NOT_FOUND 1 15821585 rs4233532 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4153,T/0.5847;Gene=CASP9/NM_001229.4/0;CC=c.1048+183G>A;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.598+183G>A;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.799+183G>A;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:158:18.60:18.60:0.00:1.00:1.00:0.00:60:49.8:0:0:31:118:26:NM_001229.3(CASP9) c.1048+183G>A,NM_001229.3(CASP9) c.1048+183G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 15821673 rs4646092 C T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7642,T/0.2358;PC=0.014;Gene=CASP9/NM_001229.4/0;CC=c.1048+95G>A;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.598+95G>A;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.799+95G>A;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:20:20:0:0:14,6:473,179:0.00,15.45:0.00,15.45:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:13.4,40.2:0,0:0,0:55,56:95,92:18,26:-,NM_001229.3(CASP9) c.1048+95G>A:-,0.24:-,NOT_FOUND 1 15821948 . C . . NT END=15831105;NT GT ./. 1 15822043 rs4646091 T C 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.764,C/0.236;Gene=CASP9/NM_001229.4/0;CC=c.869-96A>G;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.419-96A>G;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.620-96A>G;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:5:0:0:15,12:417,380:40.77,0.00:8.78,0.00:31.99,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:47.5,18.7:0,0:0,0:126,125:24,22:11,17:NM_001229.3(CASP9) c.869-96A>G,-:0.24,-:NOT_FOUND,- 1 15822073 rs4646090 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6563,G/0.3437;Gene=CASP9/NM_001229.4/0;CC=c.869-126T>C;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.419-126T>C;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.620-126T>C;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,G:14:0:0:0:9,5:276,171:0.00,15.52:0.00,0.00:0.00,15.52:0.00,0.90:0.00,0.00:0.00,0.90:60,60:35.1,34.2:0,0:0,0:77,109:74,42:31,24:-,NM_001229.3(CASP9) c.869-126T>C:-,0.36:-,NOT_FOUND 1 15831254 . C . . NT END=15832484;NT GT ./. 1 15832281 rs1800615 C T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.654,T/0.346;PC=0.005;Gene=CASP9/NM_001229.4/0;CC=c.720+204G>A;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.419-10334G>A;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.471+204G>A;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:6:6:0:0:2,4:68,128:0.00,13.05:0.00,13.05:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:53.0,64.0:0,0:0,0:48,44:102,106:16,17:-,NM_001229.3(CASP9) c.720+204G>A:-,0.36:-,NOT_FOUND 1 15832383 rs1800614 G T 78 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4153,T/0.5847;PC=0.014;Gene=CASP9/NM_001229.4/0;CC=c.720+102C>A;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.419-10436C>A;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.471+102C>A;VC=Intron;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:21:0:0:21:675:77.51:75.67:1.84:1.00:1.00:1.00:60:40.3:0:0:50:100:33:NM_001229.3(CASP9) c.720+102C>A,NM_001229.3(CASP9) c.720+102C>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 15832543 rs1052576 T C 310 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.4151,C/0.5849;Gene=CASP9/NM_001229.4/0;CC=c.662A>G;ProtCh=p.Q221R;VC=Missense;Gene=CASP9/NM_001278054.1/0;CC=c.419-10596A>G;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.413A>G;ProtCh=p.Q138R;VC=Missense;DM=CASP9/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:86:63:0:0:86:2690:309.87:144.35:165.52:1.00:1.00:1.00:60:35.5:0:0:90:58:24:NM_001229.3(CASP9) c.662A>G (p.Gln221Arg),NM_001229.3(CASP9) c.662A>G (p.Gln221Arg):0.6,0.6:0.587652,0.587652 1 15832575 . C . . NT END=15833393;NT GT ./. 1 15832789 rs531335674 C CA 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4427,CA/0.5573;DB;DBA=NA;PAF=C/0.4427,CA/0.5573;DB;DBA=NA;PAF=C/0.4427,CA/0.5573;NP=13;Gene=CASP9/NM_001229.4/0;CC=c.631-216_631-215insT;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.419-10843_419-10842insT;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.382-216_382-215insT;VC=Intron;DM=CASP9/Peptidase_C14;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,CA:5:0:5:0:1,4:30,152:0.00,13.33:0.00,0.00:0.00,13.33:0.00,0.93:0.00,0.00:0.00,0.93:60,60:54.0,20.0:0,1:0,0:28,109:123,42:0,13:-,NM_001229.3(CASP9) c.631-216_631-215insT:-,NOT_FOUND:-,NOT_FOUND 1 15833629 . C . . NT END=15834367;NT GT ./. 1 15834160 rs4646034 T C 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4143,C/0.5857;Gene=CASP9/NM_001229.4/0;CC=c.453+208A>G;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.418+10445A>G;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.204+208A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:8:0:0:8:230:26.73:26.73:0.00:1.00:1.00:0.00:60:51.4:0:0:53:97:48:NM_001229.3(CASP9) c.453+208A>G,NM_001229.3(CASP9) c.453+208A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 15834297 rs2020903 G A 104 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4157,A/0.5843;PC=0.296;Gene=CASP9/NM_001229.4/0;CC=c.453+71C>T;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.418+10308C>T;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.204+71C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:25:0:0:29:901:103.85:73.79:30.07:1.00:1.00:1.00:60:38.8:0:0:56:95:28:NM_001229.3(CASP9) c.453+71C>T,NM_001229.3(CASP9) c.453+71C>T:0.6,0.6:0.582786,0.582786 1 15834403 . C . . NT END=15844604;NT GT ./. 1 15834491 rs4646032 G A 112 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4157,A/0.5843;Gene=CASP9/NM_001229.4/0;CC=c.419-89C>T;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.418+10114C>T;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.170-89C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:8:0:0:29:983:112.10:17.95:94.15:1.00:1.00:1.00:60:41.9:0:0:102:49:32:NM_001229.3(CASP9) c.419-89C>T,NM_001229.3(CASP9) c.419-89C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 15844615 rs1132312 A G 321 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.4151,C/.,G/0.5849,T/.;Gene=CASP9/NM_001229.4/0;CC=c.408T>C;ProtCh=p.F136=;VC=Silent;Gene=CASP9/NM_001278054.1/0;CC=c.408T>C;ProtCh=p.F136=;VC=Silent;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.159T>C;ProtCh=p.F53=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:91:78:0:0:91:2775:320.83:226.28:94.55:1.00:1.00:1.00:60:39.0:0:0:47:104:24:NM_001229.3(CASP9) c.408T>C (p.(=)),NM_001229.3(CASP9) c.408T>C (p.(=)):0.6,0.6:0.587498,0.587498 1 15844891 . C . . NT END=15850563;NT GT ./. 1 15844926 rs1820205 C T 252 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.4153,T/0.5847;Gene=CASP9/NM_001229.4/0;CC=c.133-36G>A;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.133-36G>A;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-117-36G>A;VC=Intron;DM=CASP9/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:17:0:0:67:2197:251.57:40.20:211.37:1.00:1.00:1.00:60:43.6:0:0:88:63:40:NM_001229.3(CASP9) c.133-36G>A,NM_001229.3(CASP9) c.133-36G>A:0.6,0.6:0.587281,0.587281 1 15845022 rs4646006 C CTGAG 60 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4161,CTGAG/0.5839;NP=19;Gene=CASP9/NM_001229.4/0;CC=c.133-133_133-132insCTCA;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.133-133_133-132insCTCA;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-117-133_-117-132insCTCA;VC=Intron;DM=CASP9/CARD;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTGAG:28:0:19:0:9,19:303,588:0.00,60.22:0.00,0.00:0.00,60.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:61.6,25.7:1,0:0,0:144,85:6,66:2,30:-,NM_001229.3(CASP9) c.133-133_133-132insCTCA:-,0.6:-,NOT_FOUND 1 15845025 rs374417469 T A 13 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=CASP9/NM_001229.4/0;CC=c.133-135A>T;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.133-135A>T;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-117-135A>T;VC=Intron;DM=CASP9/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,T:25:0:0:0:5,20:158,661:12.75,0.00:0.00,0.00:12.75,0.00:0.83,0.00:0.00,0.00:0.83,0.00:60,60:68.6,26.1:0,1:0,0:147,94:4,56:0,28:NM_001229.3(CASP9) c.133-135A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 15850343 rs4645989 A G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6524,G/0.3476;PC=0.017;Gene=CASP9/NM_001229.4/0;CC=c.132+221T>C;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.132+221T>C;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-118+735T>C;VC=Intron;DM=CASP9/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,G:12:12:0:0:5,7:117,191:0.00,18.91:0.00,18.91:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:26.8,43.7:0,0:0,0:12,30:139,121:4,25:-,NM_001229.3(CASP9) c.132+221T>C:-,0.36:-,NOT_FOUND 1 15850386 rs4645986 GCTGA G 28 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GCTGA/0.7688,G/0.2312;NP=277;Gene=CASP9/NM_001229.4/0;CC=c.132+174_132+177delTCAG;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.132+174_132+177delTCAG;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-118+688_-118+691delTCAG;VC=Intron;DM=CASP9/CARD;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCTGA,G:19:19:0:10:9,10:265,285:0.00,27.56:0.00,27.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.6,30.8:0,0:0,0:52,43:97,107:24,17:-,NM_001229.3(CASP9) c.132+174_132+177delTCAG:-,0.23:-,NOT_FOUND 1 15850483 rs4645985 G A 173 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.366,A/0.634;Gene=CASP9/NM_001229.4/0;CC=c.132+81C>T;VC=Intron;Gene=CASP9/NM_001278054.1/0;CC=c.132+81C>T;VC=Intron;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-118+595C>T;VC=Intron;DM=CASP9/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:A:48:48:0:0:48:1505:173.32:169.49:3.83:1.00:1.00:1.00:60:45.1:0:0:63:78:38:NM_001229.3(CASP9) c.132+81C>T,NM_001229.3(CASP9) c.132+81C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 15850553 rs56744980 C G,CGGGGGCG 243 idl,nt VT=INS;SST=Single;DP=118;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4443,CGAGGGCG/.,CGGGGCG/.,CGGGGGCG/0.5557,CGTGGGCG/.;DB;DBA=NA;PAF=C/0.4443,CGGGGGCG/0.5557;NP=16;DM=CASP9/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:C,G,CGGGGGCG:118:112:76:0:11,31,76:289,927,2261:0.00,88.04,242.93:0.00,70.94,221.73:0.00,17.10,21.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:39.3,90.4,51.6:0,0,0:0,0,0:136,7,45:8,143,102:5,6,22:NM_001229.3(CASP9) c.132+11G>C,NM_001229.3(CASP9) c.132+10_132+11insCGCCCCC:NOT_FOUND,0.39:NOT_FOUND,0.406796 1 15850603 rs4645983 G A 287 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=192;DB;DBA=NA;PAF=G/0.7644,A/0.2356;Gene=CASP9/NM_001229.4/0;CC=c.93C>T;ProtCh=p.S31=;VC=Silent;Gene=CASP9/NM_001278054.1/0;CC=c.93C>T;ProtCh=p.S31=;VC=Silent;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-118+475C>T;VC=Intron;DM=CASP9/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:192:172:0:0:96,1,95:2990,9,2946:287.28,-0.17,0.00:238.04,-0.15,0.00:49.24,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:73.6,50.0,45.7:0,0,0:0,0,0:50,21,37:97,129,103:27,0,27:NM_001229.3(CASP9) c.93C>T (p.(=)),-:0.23,-:0.251437,- 1 15850613 rs1052571 G A 738 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=205;DB;DBA=NA;PAF=G/0.4153,A/0.5847;PC=0.277;Gene=CASP9/NM_001229.4/0;CC=c.83C>T;ProtCh=p.A28V;VC=Missense;Gene=CASP9/NM_001278054.1/0;CC=c.83C>T;ProtCh=p.A28V;VC=Missense;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-118+465C>T;VC=Intron;DM=CASP9/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:205:181:0:0:204,1:6413,12:737.89,0.09:559.22,0.00:178.66,0.09:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.9,32.0:0,0:0,0:53,2:90,149:31,0:NM_001229.3(CASP9) c.83C>T (p.Ala28Val),NM_001229.3(CASP9) c.83C>T (p.Ala28Val):0.59,0.59:NOT_FOUND,NOT_FOUND 1 15850792 rs142513755 GC G 362 PASS VT=DEL;SST=Single;DP=260;DB;DBA=NA;PAF=GC/0.7642,G/0.2358;NP=76;Gene=CASP9/NM_001229.4/0;CC=c.-98delG;VC=5UTR;Gene=CASP9/NM_001278054.1/0;CC=c.-98delG;VC=5UTR;Gene=CASP9/NR_102732.1/0;VC=NonCoding;Gene=CASP9/NR_102733.1/0;VC=NonCoding;Gene=CASP9/NM_032996.3/1;CC=c.-118+285delG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GC,G:260:74:0:124:2,136,122:17,4489,3816:-0.36,0.00,362.37:-0.03,0.00,52.30:-0.33,0.00,310.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:79.0,14.5,11.5:0,0,0:0,0,0:117,89,72:34,59,73:26,41,32:-,NM_001229.3(CASP9) c.-102G[4]:-,0.22:-,NOT_FOUND 1 15850874 . G . . NT END=15851120;NT GT ./. 1 15850956 rs12060237 G C 299 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CASP9/NM_032996.3/1;CC=c.-118+122C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:85:1:0:0:84,1:2608,10:298.94,0.00:1.89,0.00:297.06,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:62.0,100.0:0,0:0,0:94,69:52,59:28,0:NM_001229.3(CASP9) c.-245-u16C>G,NM_001229.3(CASP9) c.-245-u16C>G:0.58,0.58:NOT_FOUND,NOT_FOUND 1 15850973 rs59575363 TC T 239 sb,nt VT=DEL;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=44;Gene=CASP9/NM_032996.3/1;CC=c.-118+104delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:TC,T:75:1:0:74:3,72:87,2101:0.00,238.91:0.00,-0.70:0.00,239.61:0.00,1.00:0.00,0.97:0.00,1.00:60,60:66.7,58.6:0,0:0,0:129,107:2,40:18,25:NM_001229.3(CASP9) c.-245-u34delG,NM_001229.3(CASP9) c.-245-u34delG:0.6,0.6:NOT_FOUND,NOT_FOUND 1 15851064 rs59278072 A ATCCCCGCACTGACCTCACG 40 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.4239,ATCCCCGCACTGACCTCACG/0.5761;DB;DBA=NA;PAF=A/0.4239,ATCCCCGCACTGACCTCACG/0.5761;PC=0.013;Gene=CASP9/NM_032996.3/1;CC=c.-118+13_-118+14insCGTGAGGTCAGTGCGGGGA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,ATCCCCGCACTGACCTCACG:38:3:15:0:21,2,15:630,64,435:0.00,4.31,40.03:0.00,4.78,-0.22:0.00,-0.47,40.25:0.00,0.00,1.00:0.00,0.00,0.80:0.00,0.00,1.00:60,60,60:55.0,237.0,10.6:1,0,0:0,0,0:131,0,61:15,148,90:14,0,9:-,NM_001229.3(CASP9) c.-245-u125_-245-u124insCGTGAGGTCAGTGCGGGGA:-,NOT_FOUND:-,NOT_FOUND 1 15851288 . A . . NT END=15855600;NT GT ./. 1 15855339 rs7536810 A C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4145,C/0.5855;PC=0.024;Gene=DNAJC16/NM_001287811.1/0;CC=c.-770+1886A>C;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.-18-244A>C;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:263:30.12:30.12:0.00:1.00:1.00:0.00:60:72.0:0:0:35:115:20:NM_015291.2(DNAJC16) c.-18-244A>C,NM_015291.2(DNAJC16) c.-18-244A>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 15855344 rs7546951 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4145,A/0.5855;PC=0.003;Gene=DNAJC16/NM_001287811.1/0;CC=c.-770+1891G>A;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.-18-239G>A;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:273:31.55:31.55:0.00:1.00:1.00:0.00:60:74.6:0:0:36:115:31:NM_015291.2(DNAJC16) c.-18-239G>A,NM_015291.2(DNAJC16) c.-18-239G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 15855768 . G . . NT END=15860731;NT GT ./. 1 15860563 rs6703016 T A 87 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.005;Gene=DNAJC16/NM_001287811.1/0;CC=c.-769-169T>A;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.168-169T>A;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:25:0:0:25:755:87.36:87.36:0.00:1.00:1.00:0.00:60:35.7:0:0:47:103:22:NM_015291.2(DNAJC16) c.168-169T>A,NM_015291.2(DNAJC16) c.168-169T>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 15860799 . G . . NT END=15862969;NT GT ./. 1 15860803 rs11583306 C T 98 nt VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.7702,T/0.2298;Gene=DNAJC16/NM_001287811.1/0;CC=c.-703+5C>T;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.234+5C>T;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:36:0:0:31,32:1018,1018:0.00,98.07:0.00,38.80:0.00,59.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,40.0:0,0:0,0:91,104:44,32:29,25:-,NM_015291.2(DNAJC16) c.234+5C>T:-,0.23:-,0.28879 1 15861073 rs6690813 C A 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3652,A/0.6348;Gene=DNAJC16/NM_001287811.1/0;CC=c.-703+275C>A;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.234+275C>A;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:47.0:0:0:117:31:22:NM_015291.2(DNAJC16) c.234+275C>A,NM_015291.2(DNAJC16) c.234+275C>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 15863310 . G . . NT END=15870893;NT GT ./. 1 15863351 . C CT 8 rn VT=INS;SST=Single;DP=47;PC=0.089;Gene=DNAJC16/NM_001287811.1/0;CC=c.-363+53_-363+54insT;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.574+53_574+54insT;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T,CT,D:47:11:4:3:39,1,4,3:1145,12,123,72:0.00,-0.08,8.43,3.99:0.00,-0.06,1.13,1.09:0.00,-0.01,7.30,2.89:0.00,0.00,0.56,0.00:0.00,0.00,0.55,0.00:0.00,0.00,0.92,0.00:60,60,60,60:17.3,12.0,2.5,33.0:0,0,0,0:0,0,0,0:108,17,72,108:42,134,78,42:34,0,19,18:-,NM_015291.2(DNAJC16) c.574+42_574+43insT:-,NOT_FOUND:-,NOT_FOUND 1 15863560 rs55707321 G A 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7642,A/0.2358;PC=0.001;Gene=DNAJC16/NM_001287811.1/0;CC=c.-363+251G>A;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.574+251G>A;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:0:0:0:2,3:69,88:6.39,0.00:0.00,0.00:6.39,0.00:0.46,0.00:0.00,0.00:0.46,0.00:60,60:75.0,40.7:0,0:0,0:53,82:97,68:33,3:NM_015291.2(DNAJC16) c.574+251G>A,-:0.24,-:NOT_FOUND,- 1 15863620 rs6695141 T A 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4048,A/0.5952;PC=0.002;Gene=DNAJC16/NM_001287811.1/0;CC=c.-363+311T>A;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.574+311T>A;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:136:15.95:0.00:15.95:1.00:0.00:1.00:60:54.4:0:0:142:8:5:NM_015291.2(DNAJC16) c.574+311T>A,NM_015291.2(DNAJC16) c.574+311T>A:0.61,0.61:NOT_FOUND,NOT_FOUND 1 15870646 rs568791122 TACACAC T 8 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;Gene=DNAJC16/NM_001287811.1/0;CC=c.-362-218_-362-213delCACACA;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.575-218_575-213delCACACA;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:TACACAC,T:6:9:0:6:3,3:101,176:0.00,8.47:0.00,8.47:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:0.0,46.0:0,3:0,0:109,25:36,124:26,8:-,NM_015291.2(DNAJC16) c.575-247_575-242delACACAC:-,NOT_FOUND:-,NOT_FOUND 1 15871079 . G . . NT END=15873261;NT GT ./. 1 15873367 . G . . NT END=15874764;NT GT ./. 1 15873386 rs7515244 A G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6538,G/0.3462;Gene=DNAJC16/NM_001287811.1/0;CC=c.-73+20A>G;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.864+20A>G;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:28:11:0:0:15,1,12:418,10,359:0.00,0.05,33.55:0.00,-0.07,8.38:0.00,0.12,25.17:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:17.5,98.0,68.6:1,0,0:0,0,0:108,113,89:42,38,54:33,0,22:-,NM_015291.2(DNAJC16) c.864+20A>G:-,0.36:-,0.292865 1 15873410 . CT C 8 idl,rn VT=DEL;SST=Single;DP=22;NP=3;Gene=DNAJC16/NM_001287811.1/0;CC=c.-73+63delT;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.864+63delT;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CT,T,C:17:8:0:8:12,2,3:355,67,229:0.00,5.08,7.58:0.00,-0.19,1.12:0.00,5.27,6.46:0.00,0.00,0.48:0.00,0.00,0.64:0.00,0.00,0.88:60,60,60:24.3,82.0,184.7:0,0,5:0,0,0:134,73,96:16,78,49:4,23,7:-,NM_015291.2(DNAJC16) c.864+45delT:-,NOT_FOUND:-,NOT_FOUND 1 15874924 . G . . NT END=15886020;NT GT ./. 1 15874961 rs2295626 T A 84 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.6536,A/0.3464;PC=0.001;Gene=DNAJC16/NM_001287811.1/0;CC=c.87+38T>A;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1023+38T>A;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:39:13:0:0:26,13:822,432:83.79,0.00:12.37,0.00:71.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.0,1.8:0,0:0,0:92,118:54,32:23,24:NM_015291.2(DNAJC16) c.1023+38T>A,-:0.36,-:0.291404,- 1 15885666 rs72645821 C G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7638,A/.,G/0.2362;PC=0.001;Gene=DNAJC16/NM_001287811.1/0;CC=c.88-355C>G;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1024-355C>G;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:4:4:0:0:1,3:33,62:0.00,6.63:0.00,6.63:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,45.3:0,0:0,0:83,16:67,135:0,13:-,NM_015291.2(DNAJC16) c.1024-355C>G:-,0.24:-,NOT_FOUND 1 15886152 . G . . NT END=15888636;NT GT ./. 1 15886344 rs11583040 A C 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7728,C/0.2272;Gene=DNAJC16/NM_001287811.1/0;CC=c.218+193A>C;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1154+193A>C;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,C:15:1:0:0:5,10:175,280:0.00,28.60:0.00,-0.24:0.00,28.84:0.00,1.00:0.00,0.78:0.00,1.00:60,60:6.8,36.5:0,0:0,0:125,101:26,49:9,31:-,NM_015291.2(DNAJC16) c.1154+193A>C:-,0.22:-,NOT_FOUND 1 15888821 . G . . NT END=15890423;NT GT ./. 1 15890189 rs60524694 C A 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6306,A/0.3694;Gene=DNAJC16/NM_001287811.1/0;CC=c.403-235C>A;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1339-235C>A;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,C:11:11:0:0:5,6:137,178:12.78,0.00:12.78,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:76.2,29.7:0,1:0,0:39,55:75,84:30,32:NM_015291.2(DNAJC16) c.1339-235C>A,-:0.24,-:NOT_FOUND,- 1 15890221 rs59532384 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7117,G/0.2883;Gene=DNAJC16/NM_001287811.1/0;CC=c.403-203C>G;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1339-203C>G;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,G,T:19:19:0:0:12,6,1:357,161,11:0.00,13.97,0.16:0.00,13.97,0.16:0.00,0.00,0.00:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.00,0.00:60,60,29:17.4,59.8,114.0:0,0,0:0,0,0:39,47,71:110,103,36:25,33,0:-,NM_015291.2(DNAJC16) c.1339-203C>G:-,0.28:-,NOT_FOUND 1 15890342 rs71002909 CA C 41 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=CA/0.4918,C/0.5082;DB;DBA=NA;PAF=CA/0.4918,C/0.5082;NP=92;PC=0.277;Gene=DNAJC16/NM_001287811.1/0;CC=c.403-66delA;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1339-66delA;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,T,C:33:30:0:16:18,1,14:582,19,491:0.00,0.66,41.12:0.00,-0.21,35.35:0.00,0.87,5.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:14.1,42.0,22.0:1,1,2:0,0,0:40,26,70:110,116,80:30,0,28:-,NM_015291.2(DNAJC16) c.1339-81delA:-,NOT_FOUND:-,NOT_FOUND 1 15890355 rs6429750 A G 15 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.005;Gene=DNAJC16/NM_001287811.1/0;CC=c.403-69A>G;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1339-69A>G;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,G,I:39:35:7:0:29,7,3:893,194,230:0.00,15.03,7.06:0.00,9.38,3.29:0.00,5.64,3.76:0.00,0.94,0.00:0.00,0.99,0.00:0.00,0.86,0.00:60,60,60:18.4,33.6,0.0:2,0,4:0,0,0:49,12,53:101,129,98:34,9,27:-,NM_015291.2(DNAJC16) c.1339-69A>G:-,0.1:-,NOT_FOUND 1 15890607 . G . . NT END=15890777;NT GT ./. 1 15890855 . G . . NT END=15892413;NT GT ./. 1 15891040 rs566925176 C CT 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7626,CT/0.2374;DB;DBA=NA;PAF=C/0.7626,CT/0.2374;NP=22;PC=0.001;Gene=DNAJC16/NM_001287811.1/0;CC=c.662+199_662+200insT;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1598+199_1598+200insT;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,T,CT:5:0:4:0:1,1,3:32,29,130:0.00,2.52,10.13:0.00,0.00,0.00:0.00,2.52,10.13:0.00,0.00,0.73:0.00,0.00,0.00:0.00,0.00,0.73:60,60,60:0.0,136.0,0.0:0,1,1:0,0,0:39,80,111:111,71,38:0,0,10:-,NM_015291.2(DNAJC16) c.1598+186_1598+187insT:-,NOT_FOUND:-,NOT_FOUND 1 15892415 rs2236215 A C 86 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.7119,C/0.2881,T/.;PC=1.000;Gene=DNAJC16/NM_001287811.1/0;CC=c.664A>C;ProtCh=p.R222=;VC=Silent;Gene=DNAJC16/NM_015291.3/1;CC=c.1600A>C;ProtCh=p.R534=;VC=Silent;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:56:46:0:0:28,28:903,893:0.00,85.77:0.00,52.64:0.00,33.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,35.4:0,0:0,0:55,56:86,92:30,34:-,NM_015291.2(DNAJC16) c.1600A>C (p.(=)):-,0.28:-,0.358757 1 15892495 . G . . NT END=15892576;NT GT ./. 1 15892676 . G . . NT END=15893593;NT GT ./. 1 15893765 . G . . NT END=15894272;NT GT ./. 1 15893862 rs2042367 C T 84 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.3656,T/0.6344;Gene=DNAJC16/NM_001287811.1/0;CC=c.1013+98C>T;VC=Intron;Gene=DNAJC16/NM_015291.3/1;CC=c.1949+98C>T;VC=Intron;Gene=DNAJC16/NR_109898.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:6:0:0:23:726:83.56:16.80:66.76:1.00:1.00:1.00:60:36.9:0:0:110:41:25:NM_015291.2(DNAJC16) c.1949+98C>T,NM_015291.2(DNAJC16) c.1949+98C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 15894673 . G . . NT END=15900145;NT GT ./. 1 15900220 . C . . NT END=15901251;NT GT ./. 1 15900537 rs6429753 T C 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7083,C/0.2917;Gene=AGMAT/NM_024758.4/1;CC=c.986-318A>G;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T:4:1:0:0:3,1:105,24:10.96,0.00:1.93,0.00:9.03,0.00:0.85,0.00:0.83,0.00:0.85,0.00:60,60:64.7,0.0:0,0:0,0:89,1:59,150:38,0:NM_024758.4(AGMAT) c.986-318A>G,-:0.28,-:NOT_FOUND,- 1 15901121 rs61213091 C T 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7628,T/0.2372;Gene=AGMAT/NM_024758.4/1;CC=c.985+131G>A;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:16:0:0:6,11:205,332:0.00,33.65:0.00,30.46:0.00,3.19:0.00,1.00:0.00,1.00:0.00,0.76:60,60:0.0,48.4:0,0:0,0:32,19:118,132:22,17:-,NM_024758.4(AGMAT) c.985+131G>A:-,0.24:-,NOT_FOUND 1 15901337 . C . . NT END=15904179;NT GT ./. 1 15904318 rs11544523 C T 107 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.7626,T/0.2374;Gene=AGMAT/NM_024758.4/1;CC=c.762G>A;ProtCh=p.S254=;VC=Silent;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:41:0:0:36,35:1154,1113:0.00,106.60:0.00,52.56:0.00,54.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,38.7:0,0:0,0:103,69:46,82:29,38:-,NM_024758.4(AGMAT) c.762G>A (p.(=)):-,0.24:-,0.293249 1 15904360 . C . . NT END=15905353;NT GT ./. 1 15905206 rs6669156 T A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.7486,A/0.2514;Gene=AGMAT/NM_024758.4/1;CC=c.720+148A>T;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:16:0:0:9,7:293,242:28.83,0.00:28.83,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.6,0.0:0,0:0,0:33,22:118,129:12,21:NM_024758.4(AGMAT) c.720+148A>T,-:0.25,-:NOT_FOUND,- 1 15905550 . C . . NT END=15906588;NT GT ./. 1 15906638 . C . . NT END=15909687;NT GT ./. 1 15909441 rs10803393 C T 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.387,T/0.613;Gene=AGMAT/NM_024758.4/1;CC=c.475+247G>A;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:309:35.19:35.19:0.00:1.00:1.00:0.00:60:69.9:0:0:53:97:27:NM_024758.4(AGMAT) c.475+247G>A,NM_024758.4(AGMAT) c.475+247G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 15909480 rs10803394 G C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6605,C/0.3395;PC=0.001;Gene=AGMAT/NM_024758.4/1;CC=c.475+208C>G;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,G:11:11:0:0:7,4:233,139:23.51,0.00:23.51,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:84.1,43.2:0,0:0,0:63,93:88,57:29,36:NM_024758.4(AGMAT) c.475+208C>G,-:0.35,-:NOT_FOUND,- 1 15909547 rs6429756 G A 62 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3862,A/0.6138;Gene=AGMAT/NM_024758.4/1;CC=c.475+141C>T;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:17:0:0:17:542:62.30:62.30:0.00:1.00:1.00:0.00:60:52.1:0:0:44:106:37:NM_024758.4(AGMAT) c.475+141C>T,NM_024758.4(AGMAT) c.475+141C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 1 15909624 rs377404107 TGAGTACAG T 110 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=TGAGTACAG/0.3872,T/0.6128;DB;DBA=NA;PAF=TGAGTACAG/0.3872,T/0.6128;NP=1531;Gene=AGMAT/NM_024758.4/1;CC=c.475+56_475+63delCTGTACTC;VC=Intron;DM=AGMAT/Arginase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:TGAGTACAG,T:32:30:0:30:2,30:66,988:0.00,109.86:0.00,95.61:0.00,14.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.5,12.6:0,0:0,0:136,62:2,87:8,21:NM_024758.4(AGMAT) c.475+56_475+63delCTGTACTC,NM_024758.4(AGMAT) c.475+56_475+63delCTGTACTC:0.61,0.61:NOT_FOUND,NOT_FOUND 1 15909744 rs11580170 C T 111 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.7276,T/0.2724;PC=0.113;Gene=AGMAT/NM_024758.4/1;CC=c.419G>A;ProtCh=p.R140Q;VC=Missense;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:86:64:0:0:50,36:1564,1196:0.00,111.40:0.00,76.58:0.00,34.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,50.8:0,0:0,0:57,61:83,88:35,32:-,NM_024758.4(AGMAT) c.419G>A (p.Arg140Gln):-,0.26:-,0.341458 1 15909850 rs6429757 C G 313 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.3668,G/0.6332;PC=0.997;Gene=AGMAT/NM_024758.4/1;CC=c.313G>C;ProtCh=p.G105R;VC=Missense;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:51:0:0:84:2731:313.09:131.86:181.23:1.00:1.00:1.00:60:61.4:0:0:72:73:32:NM_024758.4(AGMAT) c.313G>C (p.Gly105Arg),NM_024758.4(AGMAT) c.313G>C (p.Gly105Arg):0.63,0.63:0.653852,0.653852 1 15909891 . C . . NT END=15911190;NT GT ./. 1 15909895 rs6429758 A G 239 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.3872,G/0.6128;Gene=AGMAT/NM_024758.4/1;CC=c.273-5T>C;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:28:0:0:69:2066:239.20:62.91:176.30:1.00:1.00:1.00:60:70.2:0:0:88:62:29:NM_024758.4(AGMAT) c.273-5T>C,NM_024758.4(AGMAT) c.273-5T>C:0.62,0.62:0.632093,0.632093 1 15910003 rs6429759 C T 92 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3868,T/0.6132;PC=0.002;Gene=AGMAT/NM_024758.4/1;CC=c.273-113G>A;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:0:0:0:26:796:91.92:0.00:91.92:1.00:0.00:1.00:60:76.2:0:0:115:33:31:NM_024758.4(AGMAT) c.273-113G>A,NM_024758.4(AGMAT) c.273-113G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 15910020 rs6429760 C T 62 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.387,T/0.613;PC=0.001;Gene=AGMAT/NM_024758.4/1;CC=c.273-130G>A;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:0:0:0:17:539:62.01:0.00:62.01:1.00:0.00:1.00:60:78.7:0:0:93:57:36:NM_024758.4(AGMAT) c.273-130G>A,NM_024758.4(AGMAT) c.273-130G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 15911010 rs10927807 T G 50 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3868,G/0.6132;Gene=AGMAT/NM_024758.4/1;CC=c.272+181A>C;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:15:0:0:15:429:49.96:49.96:0.00:1.00:1.00:0.00:60:67.9:0:0:47:104:34:NM_024758.4(AGMAT) c.272+181A>C,NM_024758.4(AGMAT) c.272+181A>C:0.62,0.62:NOT_FOUND,NOT_FOUND 1 15911031 rs10927808 T G 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3868,G/0.6132;Gene=AGMAT/NM_024758.4/1;CC=c.272+160A>C;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:15:0:0:15:450:52.09:52.09:0.00:1.00:1.00:0.00:60:69.3:0:0:63:88:36:NM_024758.4(AGMAT) c.272+160A>C,NM_024758.4(AGMAT) c.272+160A>C:0.62,0.62:NOT_FOUND,NOT_FOUND 1 15911131 rs59475085 G A 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.7264,A/0.2736;Gene=AGMAT/NM_024758.4/1;CC=c.272+60C>T;VC=Intron;DM=AGMAT/Arginase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:55:50:0:0:21,1,33:627,9,1103:57.03,-0.13,0.00:46.21,-0.19,0.00:10.82,0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.8,88.0,13.6:0,0,0:0,0,0:41,6,59:109,144,86:32,0,35:NM_024758.4(AGMAT) c.272+60C>T,-:0.26,-:NOT_FOUND,- 1 15911349 rs3737705 G A 226 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=159;DB;DBA=NA;PAF=G/0.6623,A/0.3377;Gene=AGMAT/NM_024758.4/1;CC=c.114C>T;ProtCh=p.D38=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:159:111:0:0:74,85:2388,2663:226.41,0.00:123.72,0.00:102.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,5.6:0,0:0,0:58,70:88,76:30,34:NM_024758.4(AGMAT) c.114C>T (p.(=)),-:0.35,-:0.232192,- 1 15911463 . T . . NT END=15944165;NT GT ./. 1 15911493 rs6687474 A G 361 nt VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.3872,G/0.6128;Gene=AGMAT/NM_024758.4/1;CC=c.-31T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:97:38:0:0:97:3152:361.34:94.64:266.70:1.00:1.00:1.00:70:44.9:0:0:103:40:29:NM_024758.4(AGMAT) c.-31T>C,NM_024758.4(AGMAT) c.-31T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 1 15911597 rs6687585 A G 110 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.3668,G/0.6332;PC=0.007;Gene=AGMAT/NM_024758.4/1;CC=c.-135T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C,G:32:2:0:0:1,31:5,953:0.07,109.60:0.00,5.74:0.07,103.85:0.00,1.00:0.00,1.00:0.00,1.00:60,70:79.0,59.8:0,0:0,0:78,113:69,33:0,27:NM_024758.4(AGMAT) c.-135T>C,NM_024758.4(AGMAT) c.-135T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 1 15911622 rs111365202 A AG 65 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.3676,AG/0.6324,AGG/.;NP=514;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,AG:24:0:20:0:4,20:106,601:0.00,64.97:0.00,0.00:0.00,64.97:0.00,1.00:0.00,0.00:0.00,1.00:60,70:52.2,49.0:1,0:0,0:147,103:2,42:3,13:-,NM_024758.4(AGMAT) c.-143-u18_-143-u17insC:-,0.63:-,NOT_FOUND 1 15911730 rs6690219 T G 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6605,G/0.3395;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:G,T:6:0:0:0:3,3:68,94:6.41,0.00:0.00,0.00:6.41,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:32.3,15.0:0,0:0,0:93,78:56,71:11,43:NM_024758.4(AGMAT) c.-143-u125A>C,-:0.35,-:NOT_FOUND,- 1 15911777 rs112795879 T TTC 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3866,TTC/0.6134;NP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TTC:4:0:4:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:24.5:0:0:127:23:7:NM_024758.4(AGMAT) c.-143-u173_-143-u172insGA,NM_024758.4(AGMAT) c.-143-u173_-143-u172insGA:0.61,0.61:NOT_FOUND,NOT_FOUND 1 15931709 rs72645895 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7508,A/0.2492;PC=0.315 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:9:0:0:0:4,5:132,137:12.44,0.00:0.00,0.00:12.44,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:41.2,0.0:0,0:0,0:79,86:70,64:29,38:chr1 g.15931708G>A (intergenic),-:0.25,-:NOT_FOUND,- 1 15944304 . G . . NT END=15953163;NT GT ./. 1 15953294 . G . . NT END=15956819;NT GT ./. 1 15956535 rs72647118 G T 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.739,T/0.261;Gene=DDI2/NM_032341.4/1;CC=c.269-285G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:G,T:7:6:0:0:4,3:141,72:0.00,6.55:0.00,3.14:0.00,3.41:0.00,0.69:0.00,0.95:0.00,0.62:60,60:28.2,107.7:0,0:0,0:44,14:107,137:14,2:-,NM_032341.4(DDI2) c.269-285G>T:-,0.25:-,NOT_FOUND 1 15956769 rs72647120 G T 71 nt VT=SNV;PN=T;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.7488,T/0.2512;PC=0.061;Gene=DDI2/NM_032341.4/1;CC=c.269-51G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:63:60:0:0:36,27:1147,771:0.00,71.23:0.00,58.84:0.00,12.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,45.2:0,0:0,0:49,36:97,107:29,26:-,NM_032341.4(DDI2) c.269-51G>T:-,0.25:-,0.325311 1 15957057 . G . . NT END=15959933;NT GT ./. 1 15959886 rs3795762 C G 259 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.3401,G/0.6599,T/.;PC=0.004;Gene=DDI2/NM_032341.4/1;CC=c.506-48C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:64:0:0:68:2263:258.65:217.60:41.06:1.00:1.00:1.00:60:48.2:0:0:45:95:30:NM_032341.4(DDI2) c.506-48C>G,NM_032341.4(DDI2) c.506-48C>G:0.66,0.66:0.680609,0.680609 1 15959977 rs3795763 C T 127 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.749,T/0.251;PC=0.298;Gene=DDI2/NM_032341.4/1;CC=c.549C>T;ProtCh=p.A183=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:86:0:0:67,43:2046,1388:0.00,127.31:0.00,86.78:0.00,40.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,49.0:0,0:0,0:69,63:81,86:30,24:-,NM_032341.4(DDI2) c.549C>T (p.(=)):-,0.25:-,0.327464 1 15960061 . G . . NT END=15964801;NT GT ./. 1 15960364 rs41270277 G A 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9139,A/0.08606;Gene=DDI2/NM_032341.4/1;CC=c.632+304G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:116:13.50:3.88:9.63:1.00:1.00:1.00:60:29.0:0:0:134:16:5:NM_032341.4(DDI2) c.632+304G>A,NM_032341.4(DDI2) c.632+304G>A:0.08,0.08:NOT_FOUND,NOT_FOUND 1 15964930 . G . . NT END=15970016;NT GT ./. 1 15965025 . CTT C 10 idl,rn VT=DEL;SST=Single;DP=38;PC=0.004;Gene=DDI2/NM_032341.4/1;CC=c.760+117_760+118delTT;VC=Intron;DM=DDI2/Asp_protease;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CTT,T,I,C:31:4:7:10:20,2,4,5:625,47,200,251:0.00,2.73,7.94,10.36:0.00,-0.08,-0.17,-0.21:0.00,2.81,8.11,10.58:0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.44:0.00,0.00,0.00,0.97:60,60,60,60:16.7,74.5,52.2,43.4:0,1,3,4:0,0,0,0:146,87,98,115:5,30,52,35:2,5,22,8:-,NM_032341.4(DDI2) c.760+97_760+98delTT:-,NOT_FOUND:-,NOT_FOUND 1 15969870 rs7531396 G C 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.749,C/0.251;PC=0.022;Gene=DDI2/NM_032341.4/1;CC=c.761-147G>C;VC=Intron;DM=DDI2/Asp_protease GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:27:27:0:0:11,15,1:341,437,24:31.61,0.00,1.21:31.61,0.00,1.21:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:42.8,9.1,90.0:0,0,0:0,0,0:62,57,125:89,94,26:45,32,0:NM_032341.4(DDI2) c.761-147G>C,-:0.25,-:NOT_FOUND,- 1 15970146 . G . . NT END=15976214;NT GT ./. 1 15975904 rs3979448 A G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6581,G/0.3419;PC=0.002;Gene=DDI2/NM_032341.4/1;CC=c.890-311A>G;VC=Intron;DM=DDI2/Asp_protease GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:8:7:0:0:3,5:90,170:0.00,17.09:0.00,13.21:0.00,3.87:0.00,0.97:0.00,1.00:0.00,0.75:60,60:0.0,54.0:0,0:0,0:12,20:139,131:4,20:-,NM_032341.4(DDI2) c.890-311A>G:-,0.33:-,NOT_FOUND 1 15975987 rs2104038 A G 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7041,G/0.2959;Gene=DDI2/NM_032341.4/1;CC=c.890-228A>G;VC=Intron;DM=DDI2/Asp_protease GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,G:12:11:0:0:5,7:155,203:0.00,20.10:0.00,14.63:0.00,5.46:0.00,0.99:0.00,1.00:0.00,0.86:60,60:0.0,45.1:0,0:0,0:86,58:64,93:13,25:-,NM_032341.4(DDI2) c.890-228A>G:-,0.29:-,NOT_FOUND 1 15976319 . G . . NT END=15978200;NT GT ./. 1 15978391 . G . . NT END=15982915;NT GT ./. 1 15982853 rs398102470 C CT 82 nt VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.9149,CT/0.08506;DB;DBA=NA;PAF=C/0.9149,CT/0.08506;NP=87;PC=0.031;Gene=DDI2/NM_032341.4/1;CC=c.1184-258dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:52:51:27:0:25,27:751,848:0.00,82.06:0.00,74.23:0.00,7.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.8,17.4:0,0:0,0:54,56:94,92:25,22:-,NM_032341.4(DDI2) c.1184-259_1184-258insT:-,0.08:-,NOT_FOUND 1 15983105 . C . . NT END=15983111;NT GT ./. 1 15983175 . G . . NT END=15986331;NT GT ./. 1 15986087 rs932602 A G 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7396,G/0.2604;PC=0.004;Gene=DDI2/NM_032341.4/1;CC=c.*47-245A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:13:13:0:0:4,9:110,273:0.00,28.14:0.00,28.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:26.5,35.1:0,0:0,0:54,46:93,104:35,20:-,NM_032341.4(DDI2) c.*47-245A>G:-,0.25:-,NOT_FOUND 1 15986547 rs3766163 T C 378 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=241;DB;DBA=NA;PAF=T/0.7492,C/0.2508;PC=1.000;Gene=DDI2/NM_032341.4/1;CC=c.*262T>C;VC=3UTR;Gene=RSC1A1/NM_006511.1/1;CC=c.184T>C;ProtCh=p.F62L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:241:149:0:0:1,119,121:9,3937,3805:-0.18,378.21,0.00:-0.12,182.18,0.00:-0.06,196.03,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:114.0,38.6,10.3:0,0,0:0,0,0:40,70,70:110,80,81:0,33,33:NM_006511.1(RSC1A1) c.184T>C (p.Phe62Leu),-:0.25,-:0.327157,- 1 15988218 . C . . NT END=16011053;NT GT ./. 1 16011005 . G GGGC 543 nt VT=INS;SST=Single;DP=169;NP=38;PC=0.012;Gene=PLEKHM2/NM_015164.2/1;CC=c.-35_-34insCGG;VC=5UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G,GGGC:169:169:158:0:11,158:345,4865:0.00,543.32:0.00,391.72:0.00,151.60:0.00,1.00:0.00,1.00:0.00,1.00:60,70:14.1,6.0:1,0:0,0:25,39:126,103:17,22:NM_015164.2(PLEKHM2) c.-37_-35dupCGG,NM_015164.2(PLEKHM2) c.-37_-35dupCGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16011114 . G . . NT END=16042731;NT GT ./. 1 16011192 rs369410677 G GGCGACCCTGCTGCCGCAGGGACTC 28 sb,nt VT=INS;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.6807,GCAGGGACTC/.,GGCGACCCTGCTGCCGCAGGGACTC/0.3193;Gene=PLEKHM2/NM_015164.2/1;CC=c.60+80_60+81insCGACCCTGCTGCCGCAGGGACTCG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGCGACCCTGCTGCCGCAGGGACTC:86:25:14:0:73,13:2233,407:0.00,27.76:0.00,-1.25:0.00,29.00:0.00,1.00:0.00,0.95:0.00,1.00:60,70:8.3,7.4:0,1:0,0:121,79:13,71:15,16:-,NM_015164.2(PLEKHM2) c.60+79_60+80insGCGACCCTGCTGCCGCAGGGACTC:-,NOT_FOUND:-,NOT_FOUND 1 16042766 rs12091750 T C 163 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.6769,C/0.3231;PC=1.000;Gene=PLEKHM2/NM_015164.2/1;CC=c.95T>C;ProtCh=p.I32T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:57:0:0:51,30:1623,905:163.43,0.00:91.68,0.00:71.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,13.1:0,0:0,0:62,77:86,65:30,29:NM_015164.2(PLEKHM2) c.95T>C (p.Ile32Thr),-:0.31,-:0.382053,- 1 16042839 . G . . NT END=16043201;NT GT ./. 1 16043312 . G . . NT END=16044387;NT GT ./. 1 16044488 . G . . NT END=16045032;NT GT ./. 1 16044945 rs12091644 G A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6769,A/0.3231;Gene=PLEKHM2/NM_015164.2/1;CC=c.378-88G>A;VC=Intron;DM=PLEKHM2/RUN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:17:0:0:8,11:235,343:21.69,0.00:18.84,0.00:2.85,0.00:0.99,0.00:1.00,0.00:0.82,0.00:60,60:46.9,29.0:0,0:0,0:21,22:129,128:17,10:NM_015164.2(PLEKHM2) c.378-88G>A,-:0.31,-:NOT_FOUND,- 1 16045121 . G . . NT END=16046228;NT GT ./. 1 16045250 rs10927840 A G 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6893,G/0.3107;Gene=PLEKHM2/NM_015164.2/1;CC=c.465+130A>G;VC=Intron;DM=PLEKHM2/RUN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:8:0:0:0:5,3:139,100:0.00,9.14:0.00,0.00:0.00,9.14:0.00,0.67:0.00,0.00:0.00,0.67:60,60:35.6,79.7:0,0:0,0:75,70:75,81:24,37:-,NM_015164.2(PLEKHM2) c.465+130A>G:-,0.3:-,NOT_FOUND 1 16045261 rs10927841 T C 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6777,C/0.3223;Gene=PLEKHM2/NM_015164.2/1;CC=c.465+141T>C;VC=Intron;DM=PLEKHM2/RUN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,T:8:0:0:0:3,5:88,137:7.94,0.00:0.00,0.00:7.94,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:79.7,35.6:0,0:0,0:81,86:70,64:37,24:NM_015164.2(PLEKHM2) c.465+141T>C,-:0.31,-:NOT_FOUND,- 1 16046109 rs1006147 C T 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.3063,T/0.6937;Gene=PLEKHM2/NM_015164.2/1;CC=c.466-120C>T;VC=Intron;DM=PLEKHM2/RUN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:444:50.60:50.60:0.00:1.00:1.00:0.00:60:58.6:0:0:41:110:26:NM_015164.2(PLEKHM2) c.466-120C>T,NM_015164.2(PLEKHM2) c.466-120C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 16046416 . G . . NT END=16046833;NT GT ./. 1 16046623 rs144815982 TTA T 8 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;Gene=PLEKHM2/NM_015164.2/1;CC=c.652+229_652+230delTA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:TTA,I,T:15:6:1:4:10,1,4:319,31,100:0.00,2.10,8.25:0.00,-0.12,2.75:0.00,2.22,5.50:0.00,0.00,0.76:0.00,0.00,0.82:0.00,0.00,0.91:60,60,60:10.8,0.0,38.5:0,0,0:0,0,0:75,44,49:75,107,102:31,0,39:-,NM_015164.2(PLEKHM2) c.652+209_652+210delTA:-,NOT_FOUND:-,NOT_FOUND 1 16046644 rs74054833 T A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PLEKHM2/NM_015164.2/1;CC=c.652+229T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,T:12:6:0:0:3,9:99,295:8.40,0.00:2.55,0.00:5.85,0.00:0.59,0.00:0.80,0.00:0.80,0.00:60,60:40.0,15.8:0,0:0,0:104,85:47,66:8,16:NM_015164.2(PLEKHM2) c.652+229T>A,-:0.17,-:NOT_FOUND,- 1 16046920 rs36100011 C T 170 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.6881,T/0.3119;Gene=PLEKHM2/NM_015164.2/1;CC=c.652+505C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:111:83:0:0:57,54:1876,1775:0.00,169.88:0.00,96.98:0.00,72.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,35.3:0,0:0,0:78,48:62,86:36,25:-,NM_015164.2(PLEKHM2) c.652+505C>T:-,0.3:-,NOT_FOUND 1 16046983 . G . . NT END=16047823;NT GT ./. 1 16047072 rs398089143 AT A 53 sb,nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=AT/0.6883,A/0.3117;DB;DBA=NA;PAF=AT/0.6883,A/0.3117;NP=2;Gene=PLEKHM2/NM_015164.2/1;CC=c.652+661delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:30:3:0:17:13,17:377,537:0.00,52.95:0.00,-0.73:0.00,53.67:0.00,1.00:0.00,0.92:0.00,1.00:60,70:13.8,0.5:0,0:0,0:103,119:48,31:30,25:-,NM_015164.2(PLEKHM2) c.652+658delT:-,0.3:-,NOT_FOUND 1 16047726 rs12734937 T C 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.6767,C/0.3233;Gene=PLEKHM2/NM_015164.2/1;CC=c.653-98T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:18:0:0:11,8:376,256:37.23,0.00:33.97,0.00:3.26,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:97.4,77.0:0,0:0,0:44,40:106,110:30,29:NM_015164.2(PLEKHM2) c.653-98T>C,-:0.31,-:NOT_FOUND,- 1 16047884 . G . . NT END=16051811;NT GT ./. 1 16048005 rs12091326 A G 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6885,G/0.3115;Gene=PLEKHM2/NM_015164.2/1;CC=c.712+122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:0:0:0:7,8:201,275:0.00,26.85:0.00,0.00:0.00,26.85:0.00,1.00:0.00,0.00:0.00,1.00:60,60:39.3,57.5:0,0:0,0:81,126:70,23:25,17:-,NM_015164.2(PLEKHM2) c.712+122A>G:-,0.3:-,NOT_FOUND 1 16048038 rs12092485 T C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6881,C/0.3119;Gene=PLEKHM2/NM_015164.2/1;CC=c.712+155T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,T:12:0:0:0:5,7:136,190:12.45,0.00:0.00,0.00:12.45,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:82.0,33.6:0,0:0,0:70,89:79,62:31,32:NM_015164.2(PLEKHM2) c.712+155T>C,-:0.3,-:NOT_FOUND,- 1 16048114 rs12065705 C T 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.847,T/0.153;Gene=PLEKHM2/NM_015164.2/1;CC=c.712+231C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:8:0:0:0:3,5:77,161:0.00,16.20:0.00,0.00:0.00,16.20:0.00,0.97:0.00,0.00:0.00,0.97:60,60:7.0,75.4:0,0:0,0:95,104:54,46:16,42:-,NM_015164.2(PLEKHM2) c.712+231C>T:-,0.14:-,NOT_FOUND 1 16052041 . G . . NT END=16053508;NT GT ./. 1 16054328 . G . . NT END=16054573;NT GT ./. 1 16054644 . G . . NT END=16054761;NT GT ./. 1 16054853 . G . . NT END=16055163;NT GT ./. 1 16055229 . G . . NT END=16055596;NT GT ./. 1 16055686 . G . . NT END=16056291;NT GT ./. 1 16056425 . G . . NT END=16057026;NT GT ./. 1 16056942 rs35232208 G GA 173 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.367,GA/0.633;NP=199;PC=0.007;Gene=PLEKHM2/NM_015164.2/1;CC=c.2209-76_2209-75insA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G,GA:54:54:55:0:4,50:94,1722:0.00,173.08:0.00,139.64:0.00,33.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:41.0,10.0:0,5:0,0:116,29:34,115:27,18:NM_015164.2(PLEKHM2) c.2209-85_2209-84insA,NM_015164.2(PLEKHM2) c.2209-85_2209-84insA:0.66,0.66:NOT_FOUND,NOT_FOUND 1 16057218 . G . . NT END=16057686;NT GT ./. 1 16057753 . G . . NT END=16058383;NT GT ./. 1 16058544 . G . . NT END=16058844;NT GT ./. 1 16059025 . G . . NT END=16059106;NT GT ./. 1 16059224 . G . . NT END=16060291;NT GT ./. 1 16060430 . G . . NT END=16062980;NT GT ./. 1 16063359 . G . . NT END=16064423;NT GT ./. 1 16063560 rs11577707 G A 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9223,A/0.07768;PC=0.005;Gene=SLC25A34/NM_207348.2/1;CC=c.378+202G>A;VC=Intron;DM=SLC25A34/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:8,9:276,277:26.32,0.00:0.00,0.00:26.32,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:52.6,5.2:0,0:0,0:82,102:68,49:42,31:NM_207348.1(SLC25A34) c.378+202G>A,-:0.09,-:NOT_FOUND,- 1 16064490 . G . . NT END=16064587;NT GT ./. 1 16064741 . G . . NT END=16065088;NT GT ./. 1 16065224 . G . . NT END=16065718;NT GT ./. 1 16065276 rs71002925 AAC A 37 rn VT=DEL;SST=Single;DP=91;DB;DBA=NA;PAF=AAC/0.6536,A/0.3464;DB;DBA=NA;PAF=AAC/0.6536,A/0.3464;NP=318;PC=0.911;Gene=SLC25A34/NM_207348.2/1;CC=c.732+74_732+75delAC;VC=Intron;DM=SLC25A34/Mito_carr;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,C,T,I,A:90:36:1:17:71,2,1,1,15:2088,31,8,25,502:0.00,0.37,-0.27,0.72,37.10:0.00,-0.22,-0.11,-0.11,10.27:0.00,0.59,-0.17,0.83,26.83:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:13.0,94.5,60.0,0.0,4.1:0,0,0,0,1:0,0,0,0,0:103,108,125,6,84:46,39,26,145,64:28,8,0,0,17:-,NM_207348.1(SLC25A34) c.732+54_732+55delAC:-,NOT_FOUND:-,NOT_FOUND 1 16065303 rs60035976 ACACACT A 81 nt VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=ACACACT/0.7272,A/0.2728;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ACACACT/0.7272,A/0.2728;NP=265;PC=0.034;Gene=SLC25A34/NM_207348.2/1;CC=c.732+92_732+97delTCACAC;VC=Intron;DM=SLC25A34/Mito_carr;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACACACT,C,G,T,A:82:26:0:30:49,1,1,1,30:1500,27,12,33,899:0.00,1.02,-0.07,1.61,81.42:0.00,-0.07,-0.07,-0.07,12.43:0.00,1.10,-0.00,1.68,68.99:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:13.1,151.0,117.0,63.0,9.0:0,0,0,1,0:0,0,0,0,0:108,143,53,125,92:38,1,98,26,57:29,0,0,0,25:-,NM_207348.1(SLC25A34) c.732+81_732+86delCACACT:-,0.35:-,NOT_FOUND 1 16065902 . A . . NT END=16069054;NT GT ./. 1 16068958 . A C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,C:18:17:0:0:13,5:310,100:0.00,7.78:0.00,8.06:0.00,-0.28:0.00,0.87:0.00,0.99:0.00,0.65:60,60:25.5,112.4:0,0:0,0:21,96:130,55:17,11:-,NM_001013641.1(TMEM82) c.-97A>C:-,NOT_FOUND:-,NOT_FOUND 1 16069143 . G . . NT END=16069329;NT GT ./. 1 16069403 . G . . NT END=16069514;NT GT ./. 1 16069690 . G . . NT END=16070654;NT GT ./. 1 16069928 rs74054849 G A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9052,A/0.09485;PC=0.002;Gene=TMEM82/NM_001013641.2/1;CC=c.336+239G>A;VC=Intron;DM=TMEM82/TMEM82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,C,G,T:8:0:0:0:3,1,3,1:77,9,83,10:7.23,0.37,0.00,0.46:0.00,0.00,0.00,0.00:7.23,0.37,0.00,0.46:0.67,0.00,0.00,0.00:0.00,0.00,0.00,0.00:0.67,0.00,0.00,0.00:60,60,60,60:36.3,9.0,11.0,110.0:0,0,0,0:0,0,0,0:86,98,98,127:64,53,53,17:11,0,15,0:NM_001013641.1(TMEM82) c.336+239G>A,-:0.07,-:NOT_FOUND,- 1 16071076 . G . . NT END=16073361;NT GT ./. 1 16073550 . G . . NT END=16074040;NT GT ./. 1 16074128 . C . . NT END=16091478;NT GT ./. 1 16091729 . G . . NT END=16093870;NT GT ./. 1 16094059 . G . . NT END=16095022;NT GT ./. 1 16095126 . G . . NT END=16096903;NT GT ./. 1 16095316 rs2271545 C T 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3566,T/0.6434;PC=0.001;Gene=FBLIM1/NM_017556.2/1;CC=c.541+191C>T;VC=Intron;Gene=FBLIM1/NM_001024215.1/0;CC=c.541+191C>T;VC=Intron;Gene=FBLIM1/NM_001024216.1/0;CC=c.251-1588C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:325:37.27:0.00:37.27:1.00:0.00:1.00:60:34.8:0:0:100:49:41:NM_001024215.1(FBLIM1) c.541+191C>T,NM_001024215.1(FBLIM1) c.541+191C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 16096893 rs12146078 C T 148 nt VT=SNV;PN=C;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.8067,T/0.1933;Gene=FBLIM1/NM_017556.2/1;CC=c.542-11C>T;VC=Intron;Gene=FBLIM1/NM_001024215.1/0;CC=c.542-11C>T;VC=Intron;Gene=FBLIM1/NM_001024216.1/0;CC=c.251-11C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:110:100:0:0:58,1,51:1868,5,1568:0.00,-0.21,148.33:0.00,-0.14,114.77:0.00,-0.06,33.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:40.0,82.0,72.4:0,0,0:0,0,0:73,93,60:76,58,89:34,0,22:-,NM_001024215.1(FBLIM1) c.542-11C>T:-,0.14:-,0.18207 1 16096934 rs10927851 C T 519 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.3576,T/0.6424;PC=1.000;Gene=FBLIM1/NM_017556.2/1;CC=c.572C>T;ProtCh=p.S191F;VC=Missense;Gene=FBLIM1/NM_001024215.1/0;CC=c.572C>T;ProtCh=p.S191F;VC=Missense;Gene=FBLIM1/NM_001024216.1/0;CC=c.281C>T;ProtCh=p.S94F;VC=Missense;DM=FBLIM1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:146:122:0:0:146:4500:519.32:337.43:181.89:1.00:1.00:1.00:60:53.6:0:0:61:84:37:NM_001024215.1(FBLIM1) c.572C>T (p.Ser191Phe),NM_001024215.1(FBLIM1) c.572C>T (p.Ser191Phe):0.62,0.62:0.616638,0.616638 1 16097074 . G . . NT END=16101112;NT GT ./. 1 16097237 rs10803398 G A 98 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.1843,A/0.8157;Gene=FBLIM1/NM_017556.2/1;CC=c.711+164G>A;VC=Intron;Gene=FBLIM1/NM_001024215.1/0;CC=c.711+164G>A;VC=Intron;Gene=FBLIM1/NM_001024216.1/0;CC=c.420+164G>A;VC=Intron;DM=FBLIM1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:0:0:0:26:858:98.17:0.00:98.17:1.00:0.00:1.00:60:44.2:0:0:99:51:27:NM_001024215.1(FBLIM1) c.711+164G>A,NM_001024215.1(FBLIM1) c.711+164G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 16100763 rs36049243 T TG 15 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3119,TG/0.6881;NP=9;Gene=FBLIM1/NM_017556.2/1;CC=c.712-350_712-349insG;VC=Intron;Gene=FBLIM1/NM_001024215.1/0;CC=c.712-350_712-349insG;VC=Intron;Gene=FBLIM1/NM_001024216.1/0;CC=c.421-350_421-349insG;VC=Intron;DM=FBLIM1/LIM;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TG:5:5:5:0:5:126:14.97:14.97:0.00:1.00:1.00:0.00:60:46.4:0:0:39:112:36:NM_001024215.1(FBLIM1) c.712-350_712-349insG,NM_001024215.1(FBLIM1) c.712-350_712-349insG:0.66,0.66:NOT_FOUND,NOT_FOUND 1 16101418 . a . . NT END=16103664;NT GT ./. 1 16103783 . G . . NT END=16111042;NT GT ./. 1 16111157 . G . . NT END=16133868;NT GT ./. 1 16116195 rs7537594 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3181,G/0.6819;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:126:14.51:4.76:9.74:1.00:1.00:1.00:60:56.8:0:0:97:53:9:chr1 g.16116194A>G (intergenic),chr1 g.16116194A>G (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 1 16119833 rs34748580 GA G 14 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GA/0.6631,G/0.3369;NP=961;PC=0.782;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:GA,G:9:1:0:5:4,5:125,139:0.00,13.59:0.00,-0.35:0.00,13.94:0.00,0.96:0.00,0.70:0.00,1.00:60,60:21.2,53.4:0,0:0,0:31,96:119,55:22,16:-,chr1 g.16119834delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16133663 rs112406518 A AT 7 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;PC=0.961;Gene=UQCRHL/NM_001089591.1/1;CC=c.*205_*206insA;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AT,D:18:18:3:2:13,3,2:398,91,66:0.00,7.17,4.98:0.00,7.17,4.98:0.00,0.00,0.00:0.00,0.52,0.00:0.00,0.52,0.00:0.00,0.00,0.00:60,60,60:39.8,62.3,77.0:0,0,0:0,0,0:38,24,47:113,124,103:21,1,37:-,NM_001089591.1(UQCRHL) c.*205dupA:-,NOT_FOUND:-,NOT_FOUND 1 16133838 rs66673012 A T 219 nt VT=SNV;PN=G;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=A/0.8538,T/0.1462;Gene=UQCRHL/NM_001089591.1/1;CC=c.*31T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:132:123:0:0:58,74:1833,2227:0.00,218.55:0.00,185.77:0.00,32.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,39.1:0,0:0,0:51,43:99,106:31,24:-,NM_001089591.1(UQCRHL) c.*31T>A:-,0.14:-,0.194141 1 16133987 rs7417535 T C 412 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=248;DB;DBA=NA;PAF=T/0.8536,C/0.1464;PC=0.993;Gene=UQCRHL/NM_001089591.1/1;CC=c.158A>G;ProtCh=p.Y53C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:248:162:0:0:128,120:4259,3784:412.37,0.00:195.77,0.00:216.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.7,6.7:0,0:0,0:80,81:68,69:33,36:NM_001089591.1(UQCRHL) c.158A>G (p.Tyr53Cys),-:0.11,-:0.193834,- 1 16134072 rs61744357 C T 379 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=266;DB;DBA=NA;PAF=C/0.8538,T/0.1462;PC=0.909;Gene=UQCRHL/NM_001089591.1/1;CC=c.73G>A;ProtCh=p.E25K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:266:164:0:0:138,128:4458,3979:0.00,378.80:0.00,186.15:0.00,192.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,71.1:0,0:0,0:69,76:76,73:44,34:-,NM_001089591.1(UQCRHL) c.73G>A (p.Glu25Lys):-,0.14:-,0.194218 1 16134129 rs61738972 C T 394 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=257;DB;DBA=NA;PAF=C/0.9447,T/0.05531;PC=0.020;Gene=UQCRHL/NM_001089591.1/1;CC=c.16G>A;ProtCh=p.E6K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:257:158:0:0:131,126:4273,4113:0.00,394.04:0.00,183.49:0.00,210.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,59.7:0,0:0,0:76,72:69,71:33,32:-,NM_001089591.1(UQCRHL) c.16G>A (p.Glu6Lys):-,0.05:-,0.069353 1 16134145 . G . . NT END=16174562;NT GT ./. 1 16134440 rs112695371 G A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8534,A/0.1466;PC=0.105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G,T:10:1:0:0:3,6,1:98,199,8:8.73,0.00,0.12:-0.16,0.00,-0.05:8.89,0.00,0.17:0.62,0.00,0.00:0.53,0.00,0.00:0.94,0.00,0.00:60,60,60:48.0,3.0,217.0:0,0,0:0,0,0:132,130,135:19,20,16:4,15,0:NM_001089591.1(UQCRHL) c.-50-u246C>T,-:0.14,-:NOT_FOUND,- 1 16154589 rs6679266 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8229,C/0.1771;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,G,T:10:9:0:0:6,1,3:175,14,105:17.80,0.77,0.00:17.80,-0.14,0.00:0.00,0.91,0.00:0.99,0.00,0.00:1.00,0.00,0.00:0.73,0.00,0.00:60,60,60:116.2,180.0,23.0:0,0,0:0,0,0:41,86,22:109,62,129:25,0,2:chr1 g.16154588T>C (intergenic),-:0.17,-:NOT_FOUND,- 1 16154613 rs6664077 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8367,T/0.1633 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:12:11:0:0:5,7:160,201:0.00,19.86:0.00,18.23:0.00,1.63:0.00,0.99:0.00,1.00:0.00,0.72:60,60:27.4,125.3:0,0:0,0:44,87:107,64:31,23:-,chr1 g.16154612C>T (intergenic):-,0.16:-,NOT_FOUND 1 16154622 rs6676556 A G 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8229,G/0.1771 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:12:0:0:6,8:204,244:0.00,24.06:0.00,20.80:0.00,3.27:0.00,1.00:0.00,1.00:0.00,0.85:60,60:34.5,119.5:0,0:0,0:18,74:131,76:11,27:-,chr1 g.16154621A>G (intergenic):-,0.16:-,NOT_FOUND 1 16154643 rs28370336 C A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3876,A/0.6124;PC=0.910 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:14:0:0:6,10:207,343:18.97,0.00:15.52,0.00:3.45,0.00:0.95,0.00:1.00,0.00:0.67,0.00:60,60:34.5,101.9:0,0:0,0:39,72:110,78:11,50:chr1 g.16154642C>A (intergenic),-:0.59,-:NOT_FOUND,- 1 16154691 rs6676646 A G 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8227,G/0.1773;PC=0.830 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:15:0:0:9,8:311,257:0.00,24.41:0.00,21.04:0.00,3.37:0.00,0.99:0.00,1.00:0.00,0.77:60,60:23.0,77.9:0,0:0,0:76,67:75,83:46,50:-,chr1 g.16154690A>G (intergenic):-,0.17:-,NOT_FOUND 1 16154699 rs369618828 ACACT A 25 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=ACACT/0.8227,A/0.1773;DB;DBA=NA;PAF=ACACT/0.8227,A/0.1773;NP=304;PC=0.444;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACACT,A:17:15:0:8:9,8:286,261:0.00,24.82:0.00,22.18:0.00,2.64:0.00,0.99:0.00,1.00:0.00,0.86:60,60:23.0,77.9:0,0:0,0:84,75:67,75:46,50:-,chr1 g.16154700_16154703delCACT (intergenic):-,0.17:-,NOT_FOUND 1 16155107 rs10927860 G C 83 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.1589,C/0.8411;PC=0.944 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:15:0:0:22:730:83.49:43.50:39.99:1.00:1.00:1.00:60:34.1:0:0:86:62:35:chr1 g.16155106G>C (intergenic),chr1 g.16155106G>C (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 1 16155230 rs145975262 AAAAAC A 18 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=AAAAAC/0.8437,A/0.1563;NP=169;PC=0.377;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:AAAAAC,A:15:3:0:6:9,6:252,191:0.00,17.59:0.00,3.16:0.00,14.43:0.00,0.96:0.00,0.80:0.00,1.00:60,60:27.2,15.2:0,0:0,0:115,114:36,36:22,10:-,chr1 g.16155231_16155235delAAAAC (intergenic):-,0.17:-,NOT_FOUND 1 16174646 . G . . NT END=16199310;NT GT ./. 1 16186937 rs377391737 A AGTGTGT 15 idl,nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1;NP=6;PC=0.065;Gene=SPEN/NM_015001.2/1;CC=c.83+12326_83+12327insGTGTGT;VC=Intron;DM=SPEN/RRM_1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,T,AGTGTGT,D:11:7:8:2:4,1,5,1:115,8,229,18:0.00,0.19,14.79,1.02:0.00,0.28,6.17,0.54:0.00,-0.10,8.62,0.48:0.00,0.00,0.90,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.99,0.00:60,60,60,18:15.8,27.0,17.2,0.0:0,0,3,0:0,0,0,0:59,71,71,62:72,36,77,37:27,0,14,0:-,NM_015001.2(SPEN) c.83+12292_83+12293insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 16199051 rs9782984 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1206,C/0.8794;Gene=SPEN/NM_015001.2/1;CC=c.84-260T>C;VC=Intron;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;DM=SPEN/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:170:19.38:19.38:0.00:1.00:1.00:0.00:60:47.4:0:0:49:102:29:NM_015001.2(SPEN) c.84-260T>C,NM_015001.2(SPEN) c.84-260T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 16199632 . G . . NT END=16199637;NT GT ./. 1 16200891 . G . . NT END=16202696;NT GT ./. 1 16203174 . G . . NT END=16235815;NT GT ./. 1 16235977 . G . . NT END=16237595;NT GT ./. 1 16237797 . G . . NT END=16242622;NT GT ./. 1 16242775 . G . . NT END=16245420;NT GT ./. 1 16245547 . G . . NT END=16245898;NT GT ./. 1 16245610 rs35883633 GT G 51 rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=GT/0.905,G/0.09505;NP=373;Gene=SPEN/NM_015001.2/1;CC=c.1521+74delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:30:12:0:16:14,16:450,519:0.00,50.54:0.00,15.56:0.00,34.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,6.3:0,0:0,0:121,68:25,82:21,30:-,NM_015001.2(SPEN) c.1521+65delT:-,NOT_FOUND:-,NOT_FOUND 1 16246013 . G . . NT END=16247364;NT GT ./. 1 16247479 . G . . NT END=16248743;NT GT ./. 1 16248728 rs532904941 CT C 7 idl,rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=38;Gene=SPEN/NM_015001.2/1;CC=c.1750-5delT;VC=Intron;DM=SPEN/RRM_5;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:CT,I,C:37:30:2:5:31,2,4:1019,63,136:0.00,3.97,7.32:0.00,0.85,6.58:0.00,3.12,0.73:0.00,0.00,0.60:0.00,0.00,0.90:0.00,0.00,0.81:60,60,60:11.2,0.0,5.2:0,0,1:0,0,0:57,33,43:92,117,108:13,30,15:-,NM_015001.2(SPEN) c.1750-15delT:-,NOT_FOUND:-,NOT_FOUND 1 16248845 . G . . NT END=16254585;NT GT ./. 1 16256007 rs848209 T C 181 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.351,C/0.649;PC=0.064;Gene=SPEN/NM_015001.2/1;CC=c.3272T>C;ProtCh=p.L1091P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:124:84:0:0:60,1,63:1896,31,2067:181.11,1.27,0.00:84.70,1.37,0.00:96.41,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.7,31.0,7.9:0,0,0:0,0,0:85,143,77:61,8,67:36,0,40:NM_015001.2(SPEN) c.3272T>C (p.Leu1091Pro),-:0.6,-:0.687759,- 1 16259813 rs848210 A G 267 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=159;DB;DBA=NA;PAF=A/0.351,G/0.649,T/.;PC=0.500;Gene=SPEN/NM_015001.2/1;CC=c.7078A>G;ProtCh=p.N2360D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:159:102:0:0:71,1,86,1:2211,10,2735,7:0.00,-0.12,267.42,-0.16:0.00,-0.10,118.42,-0.10:0.00,-0.02,149.00,-0.06:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:8.6,186.0,38.5,60.0:0,0,0,0:0,0,0,0:80,84,58,78:71,62,92,73:32,0,33,0:-,NM_015001.2(SPEN) c.7078A>G (p.Asn2360Asp):-,0.6:-,0.689605 1 16262465 rs374383017 A C 16 sb VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=1;PC=0.291;Gene=SPEN/NM_015001.2/1;CC=c.9730A>C;ProtCh=p.T3244P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:85:21:0:1:75,10:1862,243:0.00,15.88:0.00,17.32:0.00,-1.43:0.00,0.98:0.00,0.85:0.00,1.00:60,60:7.6,35.2:0,0:0,0:106,123:41,6:29,7:-,NM_015001.2(SPEN) c.9730A>C (p.Thr3244Pro):-,NOT_FOUND:-,NOT_FOUND 1 16262762 . G . . NT END=16263657;NT GT ./. 1 16263452 rs848212 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4361,G/0.5639;Gene=SPEN/NM_015001.2/1;CC=c.10027-206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:12:12:0:0:6,6:202,163:0.00,15.45:0.00,15.45:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:5.7,43.7:0,0:0,0:55,46:96,104:41,20:-,NM_015001.2(SPEN) c.10027-206A>G:-,0.54:-,NOT_FOUND 1 16264141 . G . . NT END=16264306;NT GT ./. 1 16264502 . G . . NT END=16265212;NT GT ./. 1 16265060 rs538036968 CT C 8 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=CT/0.5092,C/0.4908;NP=7;PC=0.001;Gene=SPEN/NM_015001.2/1;CC=c.10705-134delT;VC=Intron;DM=SPEN/SPOC;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:CT,C:13:15:0:5:10,3:332,166:0.00,8.37:0.00,8.37:0.00,0.00:0.00,0.55:0.00,0.55:0.00,0.00:60,60:35.0,134.0:1,2:0,0:81,33:41,108:40,10:-,NM_015001.2(SPEN) c.10705-152delT:-,NOT_FOUND:-,NOT_FOUND 1 16265372 . G . . NT END=16265790;NT GT ./. 1 16265422 rs848214 A G 109 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.4359,G/0.5641;PC=0.007;Gene=SPEN/NM_015001.2/1;CC=c.10863+51A>G;VC=Intron;DM=SPEN/SPOC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:17:0:0:26,34:817,1106:0.00,108.96:0.00,26.05:0.00,82.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,43.5:0,0:0,0:103,93:47,57:31,33:-,NM_015001.2(SPEN) c.10863+51A>G:-,0.54:-,0.604336 1 16265923 . G . . NT END=16268463;NT GT ./. 1 16268748 . C . . NT END=16268825;NT GT ./. 1 16268937 . C . . NT END=16269023;NT GT ./. 1 16269234 . C . . NT END=16269558;NT GT ./. 1 16269690 . C . . NT END=16269893;NT GT ./. 1 16270015 . C . . NT END=16270093;NT GT ./. 1 16270211 . C . . NT END=16270302;NT GT ./. 1 16270391 . C . . NT END=16270794;NT GT ./. 1 16271096 . C . . NT END=16271191;NT GT ./. 1 16271156 rs12134932 C A 368 nt VT=SNV;PN=G;NN=A;SST=Single;DP=229;DB;DBA=NA;PAF=C/0.9161,A/0.08387;Gene=ZBTB17/NM_001242884.1/0;CC=c.824+36G>T;VC=Intron;Gene=ZBTB17/NM_001287603.1/1;CC=c.1070+36G>T;VC=Intron;Gene=ZBTB17/NM_001287604.1/0;CC=c.842+36G>T;VC=Intron;Gene=ZBTB17/NM_003443.2/0;CC=c.1070+36G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:229:147:0:0:123,106:3782,3477:368.15,0.00:188.58,0.00:179.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,7.1:0,0:0,0:62,69:86,79:35,32:NM_003443.2(ZBTB17) c.1070+36G>T,-:0.08,-:0.111744,- 1 16271335 . C . . NT END=16271431;NT GT ./. 1 16271698 . C . . NT END=16272209;NT GT ./. 1 16272250 rs848217 A G 182 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=169;DB;DBA=NA;PAF=A/0.517,G/0.483;PC=0.040;Gene=ZBTB17/NM_001242884.1/0;CC=c.375T>C;ProtCh=p.A125=;VC=Silent;Gene=ZBTB17/NM_001287603.1/1;CC=c.621T>C;ProtCh=p.A207=;VC=Silent;Gene=ZBTB17/NM_001287604.1/0;CC=c.393T>C;ProtCh=p.A131=;VC=Silent;Gene=ZBTB17/NM_003443.2/0;CC=c.621T>C;ProtCh=p.A207=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:169:126:0:0:104,64,1:3501,2003,14:0.00,182.36,-0.12:0.00,92.46,0.01:0.00,89.89,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.9,38.2,87.0:0,0,0:0,0,0:65,62,150:86,81,1:30,29,0:-,NM_003443.2(ZBTB17) c.621T>C (p.(=)):-,0.47:-,0.477192 1 16272339 . G . . NT END=16272648;NT GT ./. 1 16272812 . C . . NT END=16273429;NT GT ./. 1 16273619 . C . . NT END=16274785;NT GT ./. 1 16274991 . G . . NT END=16330798;NT GT ./. 1 16316516 rs848303 T C 12 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1062,C/0.8938,G/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:105:12.38:1.65:10.73:1.00:1.00:1.00:60:46.2:0:0:104:46:18:chr1 g.16316515T>C (intergenic),chr1 g.16316515T>C (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 16319862 rs1999736 G C 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2716,C/0.7284;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:4:0:0:7:189:22.16:11.66:10.49:1.00:1.00:1.00:60:48.3:0:0:72:79:32:chr1 g.16319861G>C (intergenic),chr1 g.16319861G>C (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 1 16330881 . G . . NT END=16332413;NT GT ./. 1 16332842 . C . . NT END=16342074;NT GT ./. 1 16342255 . C . . NT END=16343568;NT GT ./. 1 16343718 . C . . NT END=16344259;NT GT ./. 1 16345292 . C . . NT END=16345628;NT GT ./. 1 16345725 . c . . NT END=16345905;NT GT ./. 1 16345965 . T . . NT END=16349114;NT GT ./. 1 16348984 rs142964147 AAC A 7 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=CLCNKA/NM_001042704.1/0;CC=c.-7-111_-7-110delAC;VC=Intron;Gene=CLCNKA/NM_001257139.1/0;CC=c.-7-111_-7-110delAC;VC=Intron;Gene=CLCNKA/NM_004070.3/1;CC=c.-7-111_-7-110delAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:AAC,A:24:24:0:3:21,3:629,91:0.00,6.61:0.00,6.61:0.00,0.00:0.00,0.47:0.00,0.47:0.00,0.00:60,60:7.8,5.7:0,0:0,0:51,32:100,119:31,0:-,NM_004070.3(CLCNKA) c.-7-123_-7-122delAC:-,NOT_FOUND:-,NOT_FOUND 1 16349215 . G . . NT END=16350294;NT GT ./. 1 16350424 . G . . NT END=16351257;NT GT ./. 1 16351387 . G . . NT END=16352602;NT GT ./. 1 16352743 . G . . NT END=16353030;NT GT ./. 1 16353109 . G . . NT END=16353191;NT GT ./. 1 16353271 . G . . NT END=16353804;NT GT ./. 1 16353931 . G . . NT END=16354315;NT GT ./. 1 16354401 . G . . NT END=16354512;NT GT ./. 1 16354615 . G . . NT END=16355255;NT GT ./. 1 16355341 . G . . NT END=16355620;NT GT ./. 1 16355795 . G . . NT END=16356225;NT GT ./. 1 16356296 . G . . NT END=16356459;NT GT ./. 1 16356571 . G . . NT END=16356955;NT GT ./. 1 16357170 . G . . NT END=16358204;NT GT ./. 1 16358339 . G . . NT END=16358697;NT GT ./. 1 16358520 rs12131197 T C 60 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.7953,C/0.2047;Gene=CLCNKA/NM_001042704.1/0;CC=c.1757-178T>C;VC=Intron;Gene=CLCNKA/NM_001257139.1/0;CC=c.1628-178T>C;VC=Intron;Gene=CLCNKA/NM_004070.3/1;CC=c.1757-178T>C;VC=Intron;DM=CLCNKA/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:9:0:0:18,17:614,430:59.57,0.00:15.89,0.00:43.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.2,18.3:0,0:0,0:109,120:41,31:30,27:NM_004070.3(CLCNKA) c.1757-178T>C,-:0.2,-:NOT_FOUND,- 1 16358787 . G . . NT END=16358937;NT GT ./. 1 16359022 . G . . NT END=16359664;NT GT ./. 1 16359052 rs10927893 A G 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.236,G/0.764;PC=0.003;Gene=CLCNKA/NM_001042704.1/0;CC=c.1926+31A>G;VC=Intron;Gene=CLCNKA/NM_001257139.1/0;CC=c.1800+31A>G;VC=Intron;Gene=CLCNKA/NM_004070.3/1;CC=c.1929+31A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:22:0:0:25,14:830,440:0.00,39.63:0.00,11.19:0.00,28.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,39.7:0,0:0,0:119,91:31,59:19,34:-,NM_004070.3(CLCNKA) c.1929+31A>G:-,0.78:-,0.854836 1 16359752 . G . . NT END=16360105;NT GT ./. 1 16360154 . G . . NT END=16370987;NT GT ./. 1 16361875 rs11807054 A G 104 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.0625,G/0.9375;PC=0.037 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:51:0:0:34,36:1062,1076:0.00,103.65:0.00,58.53:0.00,45.13:0.00,1.00:0.00,1.00:0.00,1.00:54,58:15.7,48.5:0,0:0,0:82,70:57,77:32,48:-,chr1 g.16361874A>G (intergenic):-,0.85:-,NOT_FOUND 1 16361916 rs11811753 G A 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=1418 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:73:53:0:0:15,1,57:508,15,1812:41.97,0.01,0.00:30.81,0.19,0.00:11.17,-0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,53,60:49.3,98.0,19.8:0,0,0:0,0,0:37,38,61:104,111,90:29,0,37:chr1 g.16361915G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16362621 rs2009044 G A 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=758 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:16:0:0:17:532:61.23:55.37:5.87:1.00:1.00:1.00:60:35.9:0:0:59:92:39:chr1 g.16362620G>A (intergenic),chr1 g.16362620G>A (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 16363042 rs2008876 C T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=1942 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:47:38:0:0:41,6:1290,193:0.00,14.38:0.00,6.18:0.00,8.19:0.00,0.86:0.00,0.98:0.00,0.88:60,45:13.3,41.8:0,0:0,0:40,94:110,57:23,25:-,NM_000085.4(CLCNKB) c.-152-u7189C>T:-,NOT_FOUND:-,NOT_FOUND 1 16363158 rs74057560 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=1008;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,G:90:70:0:0:7,83:236,2460:16.28,0.00:11.74,0.00:4.54,0.00:0.86,0.00:0.98,0.00:0.89,0.00:43,60:41.3,12.2:0,0:0,0:19,66:132,80:2,40:NM_000085.4(CLCNKB) c.-152-u7073G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16366234 rs1815526 T G 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.09844,G/0.9016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:24:10:0:0:12,12:398,391:38.30,0.00:9.77,0.00:28.52,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:42.4,4.4:0,0:0,0:101,104:48,32:27,26:NM_000085.4(CLCNKB) c.-152-u3997T>G,-:0.84,-:NOT_FOUND,- 1 16366651 rs200852860 CCT C 12 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:CCT,C:12:1:0:4:8,4:254,134:0.00,11.99:0.00,-0.09:0.00,12.08:0.00,0.80:0.00,0.56:0.00,0.80:60,60:8.9,18.0:0,0:0,0:136,69:14,82:7,31:-,NM_000085.4(CLCNKB) c.-152-u3579_-152-u3578delCT:-,0.11:-,NOT_FOUND 1 16366658 rs58133850 T TGCCCGTGAGGTCG 12 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:T,TGCCCGTGAGGTCG:10:0:4:0:6,4:195,134:0.00,12.39:0.00,0.00:0.00,12.39:0.00,0.84:0.00,0.00:0.00,0.84:60,60:11.8,18.0:0,4:0,0:134,74:16,77:14,31:-,NM_000085.4(CLCNKB) c.-152-u3573_-152-u3572insGCCCGTGAGGTCG:-,NOT_FOUND:-,NOT_FOUND 1 16366700 rs113087464 T A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8846,A/0.1154 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,T:5:0:0:0:2,3:72,101:6.69,0.00:0.00,0.00:6.69,0.00:0.46,0.00:0.00,0.00:0.46,0.00:60,60:36.0,9.3:0,0:0,0:92,116:58,35:13,23:NM_000085.4(CLCNKB) c.-152-u3531T>A,-:0.08,-:NOT_FOUND,- 1 16370677 rs9442195 G C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7236,C/0.2764;Gene=CLCNKB/NM_000085.4/1;CC=c.-8+302G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:4:3:0:0:2,2:72,68:6.95,0.00:7.25,0.00:-0.30,0.00:0.51,0.00:0.89,0.00:0.67,0.00:60,60:74.0,4.5:0,0:0,0:55,73:95,76:13,40:NM_000085.4(CLCNKB) c.-8+302G>C,-:0.26,-:NOT_FOUND,- 1 16370733 rs138811867 CAG C 19 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CAG/0.4451,C/0.5549;NP=67;Gene=CLCNKB/NM_000085.4/1;CC=c.-7-247_-7-246delAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:CAG,C:10:10:0:6:4,6:137,188:0.00,18.74:0.00,18.74:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:14.2,24.7:0,0:0,0:30,30:120,121:16,12:-,NM_000085.4(CLCNKB) c.-7-247_-7-246delAG:-,NOT_FOUND:-,NOT_FOUND 1 16370873 rs146972886 C T 35 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2738,CACACACACACACAT/.,CACACACACAT/0.7262,CAT/.;NP=338;Gene=CLCNKB/NM_000085.4/1;CC=c.-7-108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I:45:46:4:0:29,13,3:929,403,121:0.00,35.19,6.13:0.00,35.19,6.13:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:19.5,65.2,44.3:0,0,1:0,0,0:45,9,60:106,141,90:38,5,9:-,NM_000085.4(CLCNKB) c.-7-108C>T:-,NOT_FOUND:-,NOT_FOUND 1 16370899 rs945394 G A 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.4571,A/0.5429;Gene=CLCNKB/NM_000085.4/1;CC=c.-7-82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:58:58:0:0:26,1,31:824,10,896:77.74,-0.07,0.00:72.56,-0.06,0.00:5.18,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.94,0.00,0.00:60,60,60:50.4,206.0,12.5:0,0,0:0,0,0:30,52,47:120,89,104:12,0,30:NM_000085.4(CLCNKB) c.-7-82G>A,-:0.58,-:NOT_FOUND,- 1 16371067 rs2015352 G T 222 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.4445,A/.,C/.,T/0.5555;Gene=CLCNKB/NM_000085.4/1;CC=c.80G>T;ProtCh=p.R27L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:125:70:0:0:56,69:1854,2260:0.00,221.58:0.00,97.69:0.00,123.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,39.7:0,0:0,0:100,103:44,46:24,30:-,NM_000085.4(CLCNKB) c.80G>T (p.Arg27Leu):-,0.6:-,0.526296 1 16371088 . G . . NT END=16372052;NT GT ./. 1 16371872 rs6604908 C G 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4335,G/0.5665;Gene=CLCNKB/NM_000085.4/1;CC=c.101-181C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:15:15:0:0:8,7:267,199:0.00,18.72:0.00,18.72:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:17.4,62.6:0,0:0,0:66,43:84,108:41,29:-,NM_000085.4(CLCNKB) c.101-181C>G:-,0.6:-,NOT_FOUND 1 16371932 rs6604909 A C 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.1801,C/0.8199;Gene=CLCNKB/NM_000085.4/1;CC=c.101-121A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:29:0:0:16,14:484,460:0.00,43.71:0.00,40.83:0.00,2.88:0.00,1.00:0.00,1.00:0.00,0.98:60,60:14.0,74.6:0,0:0,0:22,43:125,108:11,25:-,NM_000085.4(CLCNKB) c.101-121A>C:-,0.85:-,NOT_FOUND 1 16372003 rs6604910 G C 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.4335,C/0.5665;PC=0.002;Gene=CLCNKB/NM_000085.4/1;CC=c.101-50G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:62:57:0:0:25,37:864,1257:80.17,0.00:67.93,0.00:12.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.1,10.9:0,0:0,0:42,46:104,95:26,27:NM_000085.4(CLCNKB) c.101-50G>C,-:0.6,-:0.521144,- 1 16372182 . G . . NT END=16373029;NT GT ./. 1 16372283 rs6604911 T G 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.606;Gene=CLCNKB/NM_000085.4/1;CC=c.229+102T>G;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:27:4:0:1:16,11:426,345:42.26,0.00:6.23,0.00:36.03,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:71.6,9.5:0,0:0,0:77,96:58,55:33,29:NM_000085.4(CLCNKB) c.229+102T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16372911 rs2014848 G A 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.2602,A/0.7398;PC=0.008;Gene=CLCNKB/NM_000085.4/1;CC=c.230-119G>A;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:44:0:0:23,23:723,749:69.41,0.00:60.09,0.00:9.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.0,9.2:0,0:0,0:28,33:121,117:19,13:NM_000085.4(CLCNKB) c.230-119G>A,-:0.74,-:NOT_FOUND,- 1 16372971 rs2014841 G A 148 nt VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.2596,A/0.7404;Gene=CLCNKB/NM_000085.4/1;CC=c.230-59G>A;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:82:0:0:47,45:1528,1403:147.56,0.00:96.22,0.00:51.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.5,15.6:0,0:0,0:49,39:100,95:30,20:NM_000085.4(CLCNKB) c.230-59G>A,-:0.78,-:NOT_FOUND,- 1 16373124 rs5257 A G 146 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.2596,G/0.7404;Gene=CLCNKB/NM_000085.4/1;CC=c.324A>G;ProtCh=p.S108=;VC=Silent;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:95:58:0:0:45,50:1441,1505:0.00,145.65:0.00,58.85:0.00,86.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,39.0:0,0:0,0:85,89:60,58:25,35:-,NM_000085.4(CLCNKB) c.324A>G (p.(=)):-,0.78:-,0.672151 1 16373159 . G . . NT END=16374399;NT GT ./. 1 16373199 rs72506933 CCTT C 62 nt VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=CCTT/0.2766,C/0.7234;DB;DBA=NA;PAF=CCTT/0.2766,C/0.7234;DB;DBA=NA;PAF=CCTT/0.2766,C/0.7234;NP=2947;Gene=CLCNKB/NM_000085.4/1;CC=c.358+44_358+46delTCT;VC=Intron;DM=CLCNKB/Voltage_CLC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCTT,C:62:26:0:23:39,23:1197,692:0.00,62.42:0.00,17.72:0.00,44.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,41.1:0,0:0,0:94,108:57,43:32,18:-,NM_000085.4(CLCNKB) c.358+42_358+44delCTT:-,0.76:-,0.642275 1 16373282 rs2095540 A G 40 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.26,G/0.74;Gene=CLCNKB/NM_000085.4/1;CC=c.358+124A>G;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:1:0:0:18,14:550,426:0.00,39.73:0.00,1.76:0.00,37.97:0.00,1.00:0.00,0.62:0.00,1.00:60,60:3.3,55.3:0,0:0,0:86,116:64,26:31,22:-,NM_000085.4(CLCNKB) c.358+124A>G:-,0.78:-,NOT_FOUND 1 16374185 rs869704 G A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2596,A/0.7404;PC=0.003;Gene=CLCNKB/NM_000085.4/1;CC=c.359-215G>A;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:11:11:0:0:5,6:127,164:11.81,0.00:11.81,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:79.2,9.3:0,0:0,0:87,67:61,83:23,25:NM_000085.4(CLCNKB) c.359-215G>A,-:0.78,-:NOT_FOUND,- 1 16374330 rs945403 A G 58 nt VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.1585,G/0.8415;Gene=CLCNKB/NM_000085.4/1;CC=c.359-70A>G;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:49:42:0:0:29,20:942,633:0.00,58.46:0.00,31.21:0.00,27.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,37.5:0,0:0,0:42,31:101,115:19,19:-,NM_000085.4(CLCNKB) c.359-70A>G:-,0.87:-,NOT_FOUND 1 16374533 rs2014562 G C 88 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.106,C/0.894;PC=0.266;Gene=CLCNKB/NM_000085.4/1;CC=c.492G>C;ProtCh=p.G164=;VC=Silent;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:76:38:0:0:30,46:961,1521:88.26,0.00:38.36,0.00:49.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.8,5.9:0,0:0,0:81,79:55,65:23,40:NM_000085.4(CLCNKB) c.492G>C (p.(=)),-:0.91,-:0.878441,- 1 16374540 . G . . NT END=16374837;NT GT ./. 1 16374622 rs2863440 C G 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.2594,G/0.7406;Gene=CLCNKB/NM_000085.4/1;CC=c.498+83C>G;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:42:13:0:0:28,14:835,375:0.00,32.55:0.00,12.41:0.00,20.14:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.1,80.0:0,0:0,0:92,65:57,85:35,49:-,NM_000085.4(CLCNKB) c.498+83C>G:-,0.78:-,NOT_FOUND 1 16374656 rs2902490 A G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.2598,G/0.7402;Gene=CLCNKB/NM_000085.4/1;CC=c.498+117A>G;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:14:0:0:24,13:767,356:0.00,31.37:0.00,12.81:0.00,18.56:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.0,79.6:0,0:0,0:67,68:82,83:34,33:-,NM_000085.4(CLCNKB) c.498+117A>G:-,0.78:-,NOT_FOUND 1 16374916 . G . . NT END=16374998;NT GT ./. 1 16374994 rs1889788 C T 180 nt VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.2614,T/0.7386;Gene=CLCNKB/NM_000085.4/1;CC=c.577-5C>T;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:113:68:0:0:55,1,57:1723,5,1866:0.00,-0.19,180.05:0.00,-0.08,76.04:0.00,-0.12,104.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:55,42,56:15.6,190.0,78.0:0,0,0:0,0,0:67,49,59:83,102,92:32,0,42:-,NM_000085.4(CLCNKB) c.577-5C>T:-,0.78:-,NOT_FOUND 1 16375063 rs1889789 C G 154 lc VT=SNV;PN=G;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.1727,G/0.8273;PC=0.004;Gene=CLCNKB/NM_000085.4/1;CC=c.641C>G;ProtCh=p.A214G;VC=Missense;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:108:70:0:0:58,50:1944,1623:0.00,153.70:0.00,66.97:0.00,86.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,93.3:0,0:0,0:92,85:50,63:38,22:-,NM_000085.4(CLCNKB) c.641C>G (p.Ala214Gly):-,0.72:-,NOT_FOUND 1 16375064 rs1889790 A C 156 lc VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.1727,C/0.8273,T/.;Gene=CLCNKB/NM_000085.4/1;CC=c.642A>C;ProtCh=p.A214=;VC=Silent;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:107:68:0:0:57,50:1910,1640:0.00,155.75:0.00,72.63:0.00,83.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,95.0:0,0:0,0:86,87:57,60:36,22:-,NM_000085.4(CLCNKB) c.642A>C (p.(=)):-,0.77:-,NOT_FOUND 1 16375078 . G . . NT END=16375256;NT GT ./. 1 16375354 rs9442227 C T 154 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.2726,T/0.7274;Gene=CLCNKB/NM_000085.4/1;CC=c.656-261C>T;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.-113C>T;VC=5UTR;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:95:79:0:0:46,49:1487,1589:0.00,153.67:0.00,102.02:0.00,51.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,46.8:0,0:0,0:54,63:89,85:37,33:-,NM_000085.4(CLCNKB) c.656-261C>T:-,0.77:-,NOT_FOUND 1 16375510 rs11588392 G A 198 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=147;DB;DBA=NA;PAF=G/0.9056,A/0.09445;Gene=CLCNKB/NM_000085.4/1;CC=c.656-105G>A;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.44G>A;ProtCh=p.G15E;VC=Missense;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:147:107:0:0:67,80:2097,2435:197.59,0.00:119.89,0.00:77.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.3,11.8:0,0:0,0:81,60:64,86:33,35:NM_000085.4(CLCNKB) c.656-105G>A,-:0.08,-:0.097502,- 1 16375741 . G . . NT END=16376112;NT GT ./. 1 16375838 rs7545067 C G 169 nt VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;Gene=CLCNKB/NM_000085.4/1;CC=c.781+98C>G;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.274+98C>G;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:114:47:0:0:59,55:1865,1773:0.00,169.27:0.00,46.60:0.00,122.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,41.3:0,0:0,0:99,99:51,49:31,21:-,NM_000085.4(CLCNKB) c.781+98C>G:-,0.77:-,NOT_FOUND 1 16376191 rs7367494 C T 119 lc VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.1701,T/0.8299;NP=3186;Gene=CLCNKB/NM_000085.4/1;CC=c.860C>T;ProtCh=p.A287V;VC=Missense;Gene=CLCNKB/NM_001165945.2/0;CC=c.353C>T;ProtCh=p.A118V;VC=Missense;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:26:0:0:14,35:463,1150:0.00,118.96:0.00,51.84:0.00,67.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,87.5:0,0:0,0:84,64:67,87:33,34:-,NM_000085.4(CLCNKB) c.860C>T (p.Ala287Val):-,0.86:-,NOT_FOUND 1 16376198 . G . . NT END=16376309;NT GT ./. 1 16376230 rs59006537 A AT 106 nt VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1456;Gene=CLCNKB/NM_000085.4/1;CC=c.866+33_866+34insT;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.359+33_359+34insT;VC=Intron;DM=CLCNKB/Voltage_CLC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:48:26:34:0:14,34:430,1020:0.00,105.65:0.00,47.34:0.00,58.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,104.2:0,0:0,0:69,70:81,80:49,31:-,NM_000085.4(CLCNKB) c.866+33_866+34insT:-,0.86:-,0.778349 1 16376232 rs59924562 A T 115 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2458,T/0.7542;NP=1;NP=1;Gene=CLCNKB/NM_000085.4/1;CC=c.866+35A>T;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.359+35A>T;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:47:25:0:0:13,34:417,1111:0.00,115.27:0.00,47.61:0.00,67.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,104.3:0,34:0,0:37,73:114,77:25,31:-,NM_000085.4(CLCNKB) c.866+35A>T:-,NOT_FOUND:-,NOT_FOUND 1 16376238 rs34589727 TC T 99 rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=TC/0.1699,T/0.8301;NP=1132;Gene=CLCNKB/NM_000085.4/1;CC=c.866+47delC;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.359+47delC;VC=Intron;DM=CLCNKB/Voltage_CLC;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:48:26:0:34:15,33:474,985:0.00,99.36:0.00,42.49:0.00,56.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,108.1:0,1:0,0:95,74:56,74:47,32:-,NM_000085.4(CLCNKB) c.866+42delC:-,0.86:-,NOT_FOUND 1 16376278 rs7365182 G A 131 nt VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.1721,A/0.8279;PC=0.006;Gene=CLCNKB/NM_000085.4/1;CC=c.867-32G>A;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.360-32G>A;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:30:0:0:40,24:1306,757:131.24,0.00:35.59,0.00:95.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.4,10.1:0,0:0,0:59,37:88,105:27,25:NM_000085.4(CLCNKB) c.867-32G>A,-:0.86,-:0.812625,- 1 16376319 rs7368151 T C 111 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.1699,C/0.8301;Gene=CLCNKB/NM_000085.4/1;CC=c.876T>C;ProtCh=p.C292=;VC=Silent;Gene=CLCNKB/NM_001165945.2/0;CC=c.369T>C;ProtCh=p.C123=;VC=Silent;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:31:0:0:36,27:1126,871:110.97,0.00:29.88,0.00:81.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:81.8,9.1:0,0:0,0:85,54:63,73:23,23:NM_000085.4(CLCNKB) c.876T>C (p.(=)),-:0.86,-:0.815085,- 1 16376412 . G . . NT END=16377010;NT GT ./. 1 16376458 rs7368166 T C 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1699,A/.,C/0.8301,G/.;Gene=CLCNKB/NM_000085.4/1;CC=c.968+47T>C;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.461+47T>C;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:6:0:0:7,8:226,265:21.44,0.00:2.95,0.00:18.49,0.00:0.99,0.00:0.97,0.00:0.99,0.00:60,60:39.1,10.5:0,0:0,0:110,89:38,61:25,25:NM_000085.4(CLCNKB) c.968+47T>C,-:0.83,-:0.802522,- 1 16376816 rs10927894 C G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8015,G/0.1985,T/.;Gene=CLCNKB/NM_000085.4/1;CC=c.969-195C>G;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.462-195C>G;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,G:8:8:0:0:2,6:68,149:0.00,15.77:0.00,15.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,113.2:0,0:0,0:13,18:138,133:1,6:-,NM_000085.4(CLCNKB) c.969-195C>G:-,0.2:-,NOT_FOUND 1 16376831 rs10803412 C T 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.2574,T/0.7426;Gene=CLCNKB/NM_000085.4/1;CC=c.969-180C>T;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.462-180C>T;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:14:14:0:0:3,11:96,332:0.00,35.25:0.00,35.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.0,77.2:0,0:0,0:27,24:124,127:2,14:-,NM_000085.4(CLCNKB) c.969-180C>T:-,0.78:-,NOT_FOUND 1 16377096 . G . . NT END=16377369;NT GT ./. 1 16377108 rs35480349 G C 126 nt VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.8375,C/0.1625;PC=0.067;Gene=CLCNKB/NM_000085.4/1;CC=c.1053+13G>C;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.546+13G>C;VC=Intron;DM=CLCNKB/Voltage_CLC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:65:32:0:0:38,27:1268,856:125.76,0.00:33.23,0.00:92.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,9.0:0,0:0,0:99,76:40,75:40,42:NM_000085.4(CLCNKB) c.1053+13G>C,-:0.16,-:0.180917,- 1 16377544 . G . . NT END=16377972;NT GT ./. 1 16378043 . G . . NT END=16378204;NT GT ./. 1 16378316 . G . . NT END=16378692;NT GT ./. 1 16378907 . G . . NT END=16380133;NT GT ./. 1 16379008 rs2050522 C T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.2508,T/0.7492;Gene=CLCNKB/NM_000085.4/1;CC=c.1622+102C>T;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1115+102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:39:2:0:0:1,21,17:11,597,545:0.03,0.00,51.28:-0.01,0.00,-0.25:0.05,0.00,51.53:0.00,0.00,1.00:0.00,0.00,0.73:0.00,0.00,1.00:60,60,60:149.0,23.0,38.6:0,0,0:0,0,0:91,106,107:60,45,44:0,31,29:-,NM_000085.4(CLCNKB) c.1622+102C>T:-,0.79:-,NOT_FOUND 1 16380196 rs5253 T C 555 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=T/0.1617,C/0.8383;Gene=CLCNKB/NM_000085.4/1;CC=c.1685T>C;ProtCh=p.M562T;VC=Missense;Gene=CLCNKB/NM_001165945.2/0;CC=c.1178T>C;ProtCh=p.M393T;VC=Missense;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:154:108:0:0:152,2:4865,43:554.66,0.00:277.19,0.00:277.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.3,63.0:0,0:0,0:63,70:82,81:35,19:NM_000085.4(CLCNKB) c.1685T>C (p.Met562Thr),NM_000085.4(CLCNKB) c.1685T>C (p.Met562Thr):0.83,0.83:0.888248,0.888248 1 16380243 rs2275166 A G 204 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=169;DB;DBA=NA;PAF=A/0.2983,G/0.7017;PC=0.655;Gene=CLCNKB/NM_000085.4/1;CC=c.1732A>G;ProtCh=p.K578E;VC=Missense;Gene=CLCNKB/NM_001165945.2/0;CC=c.1225A>G;ProtCh=p.K409E;VC=Missense;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:169:111:0:0:101,68:3250,2208:0.00,203.80:0.00,86.09:0.00,117.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.2,99.1:0,0:0,0:67,77:72,63:33,29:-,NM_000085.4(CLCNKB) c.1732A>G (p.Lys578Glu):-,0.7:-,0.70083 1 16380252 rs2275167 C T 193 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=164;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3864,T/0.6136;PC=0.257;Gene=CLCNKB/NM_000085.4/1;CC=c.1741C>T;ProtCh=p.L581=;VC=Silent;Gene=CLCNKB/NM_001165945.2/0;CC=c.1234C>T;ProtCh=p.L412=;VC=Silent;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:164:111:0:0:100,64:3259,2097:0.00,192.59:0.00,92.88:0.00,99.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.2,101.9:0,0:0,0:64,91:79,52:36,28:-,NM_000085.4(CLCNKB) c.1741C>T (p.(=)):-,0.64:-,0.611333 1 16380268 . G . . NT END=16381929;NT GT ./. 1 16380337 rs41269173 G A 97 nt VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.9153,A/0.08466;PC=0.001;Gene=CLCNKB/NM_000085.4/1;CC=c.1756+70G>A;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1249+70G>A;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:43:0:0:32,60:1073,1907:96.77,0.00:24.73,0.00:72.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:105.6,11.3:0,0:0,0:96,111:54,34:39,21:NM_000085.4(CLCNKB) c.1756+70G>A,-:0.1,-:NOT_FOUND,- 1 16380393 rs35708002 G A 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.9058,A/0.09425;PC=0.097;Gene=CLCNKB/NM_000085.4/1;CC=c.1756+126G>A;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1249+126G>A;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:4:0:0:20,32:652,950:59.70,0.00:1.41,0.00:58.29,0.00:1.00,0.00:0.86,0.00:1.00,0.00:43,60:99.9,11.8:0,0:0,0:85,96:66,55:28,40:NM_000085.4(CLCNKB) c.1756+126G>A,-:0.1,-:NOT_FOUND,- 1 16380403 rs2275168 A T 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.4752,T/0.5248;Gene=CLCNKB/NM_000085.4/1;CC=c.1756+136A>T;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1249+136A>T;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:47:2:0:0:27,20:882,599:0.00,55.48:0.00,-0.24:0.00,55.72:0.00,1.00:0.00,0.72:0.00,1.00:60,43:14.0,99.9:0,0:0,0:96,95:55,56:34,28:-,NM_000085.4(CLCNKB) c.1756+136A>T:-,0.57:-,NOT_FOUND 1 16380488 rs7414959 G A 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4744,A/0.5256;Gene=CLCNKB/NM_000085.4/1;CC=c.1756+221G>A;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1249+221G>A;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:8,10:250,300:23.45,0.00:0.00,0.00:23.45,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:68.0,16.3:0,0:0,0:105,134:45,16:37,2:NM_000085.4(CLCNKB) c.1756+221G>A,-:0.57,-:NOT_FOUND,- 1 16381718 rs1414498 T C 10 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2788,C/0.7212;Gene=CLCNKB/NM_000085.4/1;CC=c.1757-212T>C;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1250-212T>C;VC=Intron;DM=CLCNKB/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,T:10:10:0:0:4,6:113,198:10.28,0.00:10.28,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:36.2,1.0:0,0:0,0:6,25:144,125:3,11:NM_000085.4(CLCNKB) c.1757-212T>C,-:0.74,-:NOT_FOUND,- 1 16382019 . G . . NT END=16382169;NT GT ./. 1 16382254 . G . . NT END=16382916;NT GT ./. 1 16382602 rs9442196 A G 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2608,G/0.7392;Gene=CLCNKB/NM_000085.4/1;CC=c.1930-315A>G;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1420-315A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:5:2:0:0:2,3:30,104:0.00,10.39:0.00,3.26:0.00,7.13:0.00,0.78:0.00,0.87:0.00,0.94:60,60:95.5,39.3:0,0:0,0:111,139:39,12:7,6:-,NM_000085.4(CLCNKB) c.1930-315A>G:-,0.75:-,NOT_FOUND 1 16382877 rs7517792 A G 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.2159,G/0.7841;Gene=CLCNKB/NM_000085.4/1;CC=c.1930-40A>G;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1420-40A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:38:0:0:16,25:494,803:0.00,80.34:0.00,53.44:0.00,26.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,68.8:0,0:0,0:73,36:78,115:30,23:-,NM_000085.4(CLCNKB) c.1930-40A>G:-,0.78:-,0.761956 1 16382880 rs7512547 T A 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.7049,A/0.2951;Gene=CLCNKB/NM_000085.4/1;CC=c.1930-37T>A;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1420-37T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:43:40:0:0:25,18:848,570:84.06,0.00:58.17,0.00:25.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.6,5.3:0,0:0,0:54,76:97,75:22,36:NM_000085.4(CLCNKB) c.1930-37T>A,-:0.26,-:0.30855,- 1 16383004 . G . . NT END=16383363;NT GT ./. 1 16383267 rs12728542 A G 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7482,G/0.2518;Gene=CLCNKB/NM_000085.4/1;CC=c.2017-97A>G;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1507-97A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:23:0:0:15,13:342,381:0.00,35.97:0.00,29.64:0.00,6.33:0.00,1.00:0.00,1.00:0.00,0.99:60,60:40.7,79.9:0,0:0,0:95,71:43,49:34,31:-,NM_000085.4(CLCNKB) c.2017-97A>G:-,0.23:-,NOT_FOUND 1 16383329 rs138507185 T TC 19 rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.3672,TA/.,TC/0.6328,TCC/.,TCCC/.,TCCCCCCC/.;NP=945;Gene=CLCNKB/NM_000085.4/1;CC=c.2017-29dupC;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1507-29dupC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,C,G,T,TC:42:22:9:0:1,3,1,28,9:10,92,12,685,239:-0.08,6.30,0.02,0.00,19.27:0.08,1.85,-0.13,0.00,7.53:-0.17,4.45,0.14,0.00,11.74:0.00,0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:218.0,121.7,12.0,48.1,104.3:1,2,0,0,0:0,0,0,0,0:71,46,79,45,24:79,83,72,93,127:0,24,0,23,13:-,NM_000085.4(CLCNKB) c.2017-35_2017-34insC:-,NOT_FOUND:-,NOT_FOUND 1 16383336 rs199792246 G C 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.2853,C/0.7147;DB;DBA=NA;PAF=NA;Gene=CLCNKB/NM_000085.4/1;CC=c.2017-28G>C;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1507-28G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:52:30:0:0:19,33:564,1030:50.65,0.00:26.63,0.00:24.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:114.0,40.0:1,0:0,0:32,28:119,114:25,25:NM_000085.4(CLCNKB) c.2017-28G>C,-:0.63,-:NOT_FOUND,- 1 16383348 rs61769892 C T 54 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.7486,T/0.2514;Gene=CLCNKB/NM_000085.4/1;CC=c.2017-16C>T;VC=Intron;Gene=CLCNKB/NM_001165945.2/0;CC=c.1507-16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:32:0:0:38,20:1204,602:0.00,53.50:0.00,21.56:0.00,31.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.2,102.5:0,0:0,0:39,35:103,114:24,20:-,NM_000085.4(CLCNKB) c.2017-16C>T:-,0.2:-,NOT_FOUND 1 16383412 . G . . NT END=16384931;NT GT ./. 1 16383448 rs10803415 A C 203 nt VT=SNV;PN=G;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.09904,C/0.901;NP=3317;Gene=CLCNKB/NM_000085.4/1;CC=c.*37A>C;VC=3UTR;Gene=CLCNKB/NM_001165945.2/0;CC=c.*37A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C:55:27:0:0:55:1769:203.00:72.91:130.08:1.00:1.00:1.00:60:62.9:0:0:108:43:23:NM_000085.4(CLCNKB) c.*37A>C,NM_000085.4(CLCNKB) c.*37A>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 16383515 rs12402924 C T 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.7504,T/0.2496;PC=0.008;Gene=CLCNKB/NM_000085.4/1;CC=c.*104C>T;VC=3UTR;Gene=CLCNKB/NM_001165945.2/0;CC=c.*104C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:4:0:0:19,17:582,562:0.00,53.51:0.00,5.61:0.00,47.90:0.00,1.00:0.00,0.92:0.00,1.00:44,44:27.2,85.7:0,0:0,0:113,63:38,87:26,30:-,NM_000085.4(CLCNKB) c.*104C>T:-,0.23:-,NOT_FOUND 1 16383581 rs1057844 G T 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=961;Gene=CLCNKB/NM_000085.4/1;CC=c.*170G>T;VC=3UTR;Gene=CLCNKB/NM_001165945.2/0;CC=c.*170G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:1:0:0:8,10:259,333:0.00,32.70:0.00,-0.18:0.00,32.88:0.00,1.00:0.00,0.70:0.00,1.00:42,43:18.9,98.5:0,0:0,0:122,107:28,43:10,16:-,NM_000085.4(CLCNKB) c.*170G>T:-,NOT_FOUND:-,NOT_FOUND 1 16383605 rs1057845 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=CLCNKB/NM_000085.4/1;CC=c.*194A>G;VC=3UTR;Gene=CLCNKB/NM_001165945.2/0;CC=c.*194A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,G:13:0:0:0:5,8:146,266:0.00,26.66:0.00,0.00:0.00,26.66:0.00,1.00:0.00,0.00:0.00,1.00:42,43:16.0,103.4:0,0:0,0:136,123:13,27:5,13:-,NM_000085.4(CLCNKB) c.*194A>G:-,NOT_FOUND:-,NOT_FOUND 1 16383668 rs6660218 T G 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=547;Gene=CLCNKB/NM_000085.4/1;CC=c.*257T>G;VC=3UTR;Gene=CLCNKB/NM_001165945.2/0;CC=c.*257T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:158:18.18:0.00:18.18:1.00:0.00:1.00:51:103.2:0:0:18:133:15:NM_000085.4(CLCNKB) c.=,NM_000085.4(CLCNKB) c.=:1,1:NOT_FOUND,NOT_FOUND 1 16383742 rs1057857 C G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=CLCNKB/NM_000085.4/1;CC=c.*331C>G;VC=3UTR;Gene=CLCNKB/NM_001165945.2/0;CC=c.*331C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:129:14.80:0.00:14.80:1.00:0.00:1.00:51:113.0:0:0:89:61:7:NM_000085.4(CLCNKB) c.*331C>G,NM_000085.4(CLCNKB) c.*331C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16384784 rs2019490 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2226,G/0.7774;Gene=FAM131C/NM_182623.2/1;CC=c.*148T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,G:8:8:0:0:4,4:134,119:0.00,11.40:0.00,11.40:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:42,58:35.0,50.0:0,0:0,0:16,47:134,104:6,30:-,NM_182623.2(FAM131C) c.*148T>C:-,0.77:-,NOT_FOUND 1 16384843 rs114956983 G C 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=FAM131C/NM_182623.2/1;CC=c.*89C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:14:13:0:0:6,8:209,282:19.61,0.00:18.29,0.00:1.32,0.00:0.96,0.00:1.00,0.00:0.89,0.00:42,58:53.0,23.2:0,0:0,0:65,26:85,123:12,5:NM_182623.2(FAM131C) c.*89C>G,-:0.12,-:NOT_FOUND,- 1 16385131 rs1832151 C A 69 lc VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=0.772;Gene=FAM131C/NM_182623.2/1;CC=c.644G>T;ProtCh=p.S215I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:60:51:0:0:24,36:749,1219:68.80,0.00:42.51,0.00:26.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,50:36.1,14.2:0,0:0,0:63,97:78,50:38,17:NM_182623.2(FAM131C) c.644G>T (p.Ser215Ile),-:0.17,-:NOT_FOUND,- 1 16385175 rs17853748 G A 56 lc VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=FAM131C/NM_182623.2/1;CC=c.600C>T;ProtCh=p.S200=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:41:0:0:20,36:622,1168:55.89,0.00:16.00,0.00:39.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,59:39.3,17.0:0,0:0,0:121,55:22,92:17,38:NM_182623.2(FAM131C) c.600C>T (p.(=)),-:0.63,-:NOT_FOUND,- 1 16385213 . C . . NT END=16385988;NT GT ./. 1 16385250 rs74054904 A G 12 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.402,G/0.598;Gene=FAM131C/NM_182623.2/1;CC=c.563-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:32:19:0:0:27,5:900,159:0.00,12.26:0.00,-0.92:0.00,13.19:0.00,0.79:0.00,0.91:0.00,0.96:60,40:16.8,64.6:0,0:0,0:83,136:60,14:25,1:-,NM_182623.2(FAM131C) c.563-38T>C:-,0.58:-,NOT_FOUND 1 16385768 rs10927897 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7574,A/0.2426;Gene=FAM131C/NM_182623.2/1;CC=c.562+221C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:A,G:4:4:0:0:2,2:69,37:6.71,0.00:6.71,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:49,50:91.5,61.5:0,0:0,0:102,66:49,82:10,51:NM_182623.2(FAM131C) c.562+221C>T,-:0.24,-:NOT_FOUND,- 1 16385980 rs3884058 G A 78 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.2849,A/0.7151;Gene=FAM131C/NM_182623.2/1;CC=c.562+9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:50:0:0:27,29:821,952:78.11,0.00:52.54,0.00:25.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.4,4.9:0,0:0,0:58,35:84,95:38,26:NM_182623.2(FAM131C) c.562+9C>T,-:0.72,-:0.67707,- 1 16386008 rs2863452 T C 83 lc VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.2784,C/0.7216;PC=0.310;Gene=FAM131C/NM_182623.2/1;CC=c.543A>G;ProtCh=p.Q181=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:57:0:0:28,38:892,1189:83.01,0.00:45.80,0.00:37.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.5,5.6:0,0:0,0:62,53:73,91:25,29:NM_182623.2(FAM131C) c.543A>G (p.(=)),-:0.71,-:NOT_FOUND,- 1 16386100 . C . . NT END=16386363;NT GT ./. 1 16386247 rs2095543 T C 72 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.08327,C/0.9167;PC=0.001;Gene=FAM131C/NM_182623.2/1;CC=c.451+117A>G;VC=Intron;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C,T:22:13:0:0:21,1:634,11:71.84,0.00:39.36,0.00:32.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,45:63.2,129.0:0,0:0,0:88,81:62,36:32,0:NM_182623.2(FAM131C) c.451+117A>G,NM_182623.2(FAM131C) c.451+117A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 16386305 rs542191066 G GC 47 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.6322,GC/0.3678;DB;DBA=NA;PAF=G/0.6322,GC/0.3678;DB;DBA=NA;PAF=G/0.6322,GC/0.3678,GCC/.;NP=25;Gene=FAM131C/NM_182623.2/1;CC=c.451+58dupG;VC=Intron;DM=FAM131C/FAM131;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:37:27:17:0:20,17:612,497:0.00,46.74:0.00,38.55:0.00,8.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.5,32.8:0,0:0,0:39,23:111,126:22,20:-,NM_182623.2(FAM131C) c.451+58_451+59insG:-,NOT_FOUND:-,NOT_FOUND 1 16386416 rs9442230 G A 103 lc VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.2895,A/0.7105;Gene=FAM131C/NM_182623.2/1;CC=c.399C>T;ProtCh=p.D133=;VC=Silent;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:48:0:0:33,33:1075,1020:103.38,0.00:66.18,0.00:37.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.1,29.8:0,0:0,0:90,70:61,64:30,30:NM_182623.2(FAM131C) c.399C>T (p.(=)),-:0.72,-:0.685214,- 1 16386447 rs11576236 G C 192 lc VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.08407,C/0.9159,T/.;Gene=FAM131C/NM_182623.2/1;CC=c.368C>G;ProtCh=p.P123R;VC=Missense;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C,T:55:37:0:0:54,1:1665,11:191.66,0.21:101.65,0.00:90.01,0.21:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.0,95.0:0,0:0,0:96,128:55,23:25,0:NM_182623.2(FAM131C) c.368C>G (p.Pro123Arg),NM_182623.2(FAM131C) c.368C>G (p.Pro123Arg):0.88,0.88:NOT_FOUND,NOT_FOUND 1 16386547 . C . . NT END=16388593;NT GT ./. 1 16386676 rs199572470 GC G 9 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;Gene=FAM131C/NM_182623.2/1;CC=c.269-131delG;VC=Intron;DM=FAM131C/FAM131;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:GC,G:8:0:0:4:4,4:104,91:0.00,8.57:0.00,0.00:0.00,8.57:0.00,0.87:0.00,0.00:0.00,0.87:60,40:50.2,26.8:0,0:0,0:83,79:68,71:40,16:-,NM_182623.2(FAM131C) c.269-131delG:-,NOT_FOUND:-,NOT_FOUND 1 16386734 rs9442231 T C 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3568,C/0.6432;Gene=FAM131C/NM_182623.2/1;CC=c.269-188A>G;VC=Intron;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:6:0:0:0:3,3:95,98:9.12,0.00:0.00,0.00:9.12,0.00:0.73,0.00:0.00,0.00:0.73,0.00:40,60:35.7,67.0:0,0:0,0:125,97:26,54:10,7:NM_182623.2(FAM131C) c.269-188A>G,-:0.59,-:NOT_FOUND,- 1 16388474 rs1889791 G A 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.762,A/0.238;Gene=FAM131C/NM_182623.2/1;CC=c.268+120C>T;VC=Intron;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:207,219:19.96,0.00:19.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:43,55:57.1,7.9:0,0:0,0:93,56:57,95:38,10:NM_182623.2(FAM131C) c.268+120C>T,-:0.24,-:NOT_FOUND,- 1 16388534 rs2863454 C T 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.7636,T/0.2364;Gene=FAM131C/NM_182623.2/1;CC=c.268+60G>A;VC=Intron;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:23:0:0:14,11:461,369:0.00,34.70:0.00,28.49:0.00,6.21:0.00,1.00:0.00,1.00:0.00,0.97:60,43:25.5,123.8:0,0:0,0:32,17:116,134:29,12:-,NM_182623.2(FAM131C) c.268+60G>A:-,0.22:-,NOT_FOUND 1 16388556 rs2863455 C T 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.3598,A/.,G/.,T/0.6402;Gene=FAM131C/NM_182623.2/1;CC=c.268+38G>A;VC=Intron;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:27:0:0:16,14:511,420:0.00,39.65:0.00,31.51:0.00,8.14:0.00,1.00:0.00,1.00:0.00,1.00:60,43:23.6,122.0:0,0:0,0:49,36:94,112:31,13:-,NM_182623.2(FAM131C) c.268+38G>A:-,0.64:-,0.544058 1 16388580 rs3978467 C T 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FAM131C/NM_182623.2/1;CC=c.268+14G>A;VC=Intron;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:25:0:0:14,18:477,583:0.00,57.36:0.00,37.40:0.00,19.96:0.00,1.00:0.00,1.00:0.00,1.00:60,51:29.9,108.6:0,0:0,0:55,47:87,102:21,16:-,NM_182623.2(FAM131C) c.268+14G>A:-,NOT_FOUND:-,NOT_FOUND 1 16388646 rs2863456 T C 200 lc VT=SNV;PN=A;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.1833,C/0.8167;PC=0.011;Gene=FAM131C/NM_182623.2/1;CC=c.216A>G;ProtCh=p.R72=;VC=Silent;DM=FAM131C/FAM131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:C:54:37:0:0:54:1742:199.85:91.74:108.11:1.00:1.00:1.00:60:70.4:0:0:66:68:36:NM_182623.2(FAM131C) c.216A>G (p.(=)),NM_182623.2(FAM131C) c.216A>G (p.(=)):0.83,0.83:0.821773,0.821773 1 16388688 . C . . NT END=16388993;NT GT ./. 1 16388709 rs28570004 G T 63 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=FAM131C/NM_182623.2/1;CC=c.175-22C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:21:0:0:21,21:706,660:0.00,63.34:0.00,20.59:0.00,42.76:0.00,1.00:0.00,1.00:0.00,1.00:60,53:62.0,56.9:0,0:0,0:116,92:28,48:17,19:-,NM_182623.2(FAM131C) c.175-22C>A:-,0.47:-,0.548379 1 16388737 rs3978468 G A 38 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=FAM131C/NM_182623.2/1;CC=c.175-50C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:11:0:0:14,17:407,506:38.08,0.00:1.73,0.00:36.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,58:78.6,44.5:0,0:0,0:109,101:42,48:33,15:NM_182623.2(FAM131C) c.175-50C>T,-:0.25,-:0.290093,- 1 16388756 rs113174531 CACCCAT C 40 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=CACCCAT/0.8359,C/0.1641;NP=319;Gene=FAM131C/NM_182623.2/1;CC=c.175-75_175-70delATGGGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CACCCAT,C:25:6:0:13:12,13:416,410:0.00,39.68:0.00,10.41:0.00,29.27:0.00,1.00:0.00,0.98:0.00,1.00:60,58:75.8,39.2:0,0:0,0:114,109:36,38:28,13:-,NM_182623.2(FAM131C) c.175-75_175-70delATGGGT:-,NOT_FOUND:-,NOT_FOUND 1 16388766 rs3978469 C T 92 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.2492,T/0.7508;Gene=FAM131C/NM_182623.2/1;CC=c.175-79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:6:0:0:24:803:91.74:16.54:75.20:1.00:1.00:1.00:60:54.5:13:0:111:38:27:NM_182623.2(FAM131C) c.175-79G>A,NM_182623.2(FAM131C) c.175-79G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 16388852 rs202226162 AC A 15 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AC/0.7466,A/0.2534;NP=169;Gene=FAM131C/NM_182623.2/1;CC=c.174+141delG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:AC,A:10:4:0:5:5,5:115,153:0.00,14.70:0.00,6.47:0.00,8.24:0.00,0.95:0.00,0.51:0.00,0.73:60,60:30.4,86.6:0,0:0,0:86,65:38,86:36,16:-,NM_182623.2(FAM131C) c.174+141delG:-,0.23:-,NOT_FOUND 1 16388875 rs60748888 GCC G 8 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GCC/0.1458,G/0.8542;DB;DBA=NA;PAF=GCC/0.1458,G/0.8542;NP=2;Gene=FAM131C/NM_182623.2/1;CC=c.174+117_174+118delGG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:GCC,G:7:5:0:5:4,3:109,122:0.00,8.14:0.00,4.67:0.00,3.47:0.00,0.67:0.00,0.90:0.00,0.85:60,60:20.0,94.7:0,1:0,0:124,57:12,83:19,24:-,NM_182623.2(FAM131C) c.174+117_174+118delGG:-,NOT_FOUND:-,NOT_FOUND 1 16388904 rs2902491 A T 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7482,T/0.2518;PC=0.001;Gene=FAM131C/NM_182623.2/1;CC=c.174+90T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:15:9:0:0:7,1,7:215,11,234:0.00,0.30,22.52:0.00,-0.13,11.14:0.00,0.44,11.38:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:5.9,72.0,96.0:0,0,0:0,0,0:12,67,34:129,65,108:9,0,31:-,NM_182623.2(FAM131C) c.174+90T>A:-,0.22:-,NOT_FOUND 1 16388909 rs2863457 T C 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7522,C/0.2478;Gene=FAM131C/NM_182623.2/1;CC=c.174+85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:9:0:0:8,7:237,190:23.02,0.00:10.79,0.00:12.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.2,5.9:0,0:0,0:55,17:81,124:32,9:NM_182623.2(FAM131C) c.174+85A>G,-:0.22,-:NOT_FOUND,- 1 16389026 rs2863458 T C 23 lc VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.7017,C/0.2983;PC=1.000;Gene=FAM131C/NM_182623.2/1;CC=c.142A>G;ProtCh=p.K48E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:20:0:0:8,21:271,687:23.50,0.00:13.84,0.00:9.66,0.00:0.98,0.00:0.99,0.00:0.99,0.00:60,60:48.4,11.3:0,0:0,0:69,76:82,70:21,49:NM_182623.2(FAM131C) c.142A>G (p.Lys48Glu),-:0.26,-:0.312437,- 1 16389030 . C . . NT END=16390015;NT GT ./. 1 16389118 rs11577791 G A 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8211,A/0.1789;PC=0.056;Gene=FAM131C/NM_182623.2/1;CC=c.139-89C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:15:6:0:0:10,5:348,161:35.42,0.00:7.12,0.00:28.30,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:47.7,27.4:0,0:0,0:95,91:56,60:32,49:NM_182623.2(FAM131C) c.139-89C>T,-:0.17,-:NOT_FOUND,- 1 16390132 . C . . NT END=16399915;NT GT ./. 1 16399938 . C . . NT END=16451709;NT GT ./. 1 16444604 rs398102473 G GCA 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3375,GCA/0.6625,GCACA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;NP=508;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,GCA:4:3:3:0:1,3:10,100:0.00,10.50:0.00,3.15:0.00,7.35:0.00,0.85:0.00,0.99:0.00,0.99:60,60:119.0,3.7:0,0:0,0:60,62:90,88:0,22:-,chr1 g.16444604_16444605insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16451413 rs1803527 C T 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.09425,T/0.9058;Gene=EPHA2/NM_004431.3/1;CC=c.*297G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:31.6:0:0:28:123:11:NM_004431.3(EPHA2) c.*297G>A,NM_004431.3(EPHA2) c.*297G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 16451767 rs3754334 G A 161 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.7634,A/0.2366;PC=0.001;Gene=EPHA2/NM_004431.3/1;CC=c.2874C>T;ProtCh=p.I958=;VC=Silent;DM=EPHA2/SAM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:101:71:0:0:50,51:1673,1717:160.75,0.00:80.18,0.00:80.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,4.3:0,0:0,0:81,70:50,61:28,25:NM_004431.3(EPHA2) c.2874C>T (p.(=)),-:0.23,-:0.227895,- 1 16451816 . C . . NT END=16455928;NT GT ./. 1 16456085 . C . . NT END=16456720;NT GT ./. 1 16456915 . C . . NT END=16458215;NT GT ./. 1 16458059 rs532597592 G A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9992,A/0.0007987;NP=5;Gene=EPHA2/NM_004431.3/1;CC=c.2475+157C>T;VC=Intron;DM=EPHA2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:10,13:282,393:26.11,0.00:26.11,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:54.9,14.1:0,0:0,0:40,31:97,120:28,13:NM_004431.3(EPHA2) c.2475+157C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16458076 rs375484276 C CA 31 rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1;PC=0.016;Gene=EPHA2/NM_004431.3/1;CC=c.2475+139_2475+140insT;VC=Intron;DM=EPHA2/Pkinase_Tyr;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:28:29:12:0:1,16,11:31,482,372:1.87,0.00,31.32:1.87,0.00,31.32:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:31.0,27.1,30.5:0,2,1:0,0,0:1,46,36:150,103,114:0,26,19:-,NM_004431.3(EPHA2) c.2475+139_2475+140insT:-,NOT_FOUND:-,NOT_FOUND 1 16458366 . C . . NT END=16458558;NT GT ./. 1 16458769 . C . . NT END=16458872;NT GT ./. 1 16458935 . C . . NT END=16459674;NT GT ./. 1 16459864 . C . . NT END=16459975;NT GT ./. 1 16460102 . C . . NT END=16460354;NT GT ./. 1 16460411 . C . . NT END=16460962;NT GT ./. 1 16460743 rs34198714 TAAC T 38 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TAAC/0.02636,T/0.9736;DB;DBA=NA;PAF=TAAC/0.02636,T/0.9736;NP=213;Gene=EPHA2/NM_004431.3/1;CC=c.1682+217_1682+219delGTT;VC=Intron;DM=EPHA2/EphA2_TM;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:9:0:11:11:330:38.24:30.79:7.45:1.00:1.00:1.00:60:8.9:0:0:60:79:33:NM_004431.3(EPHA2) c.1682+217_1682+219delGTT,NM_004431.3(EPHA2) c.1682+217_1682+219delGTT:0.99,0.99:NOT_FOUND,NOT_FOUND 1 16461063 . C . . NT END=16461530;NT GT ./. 1 16461685 . C . . NT END=16462149;NT GT ./. 1 16462266 . C . . NT END=16464347;NT GT ./. 1 16464673 rs2230597 G A 276 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=203;DB;DBA=NA;PAF=G/0.6506,A/0.3494;PC=0.058;Gene=EPHA2/NM_004431.3/1;CC=c.987C>T;ProtCh=p.P329=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:203:127:0:1:93,1,109:2920,6,3511:275.66,-0.22,0.00:116.43,-0.12,0.00:159.23,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.4,164.0,5.6:0,0,0:0,0,0:65,18,80:84,133,61:32,0,33:NM_004431.3(EPHA2) c.987C>T (p.(=)),-:0.32,-:0.388786,- 1 16464681 . C . . NT END=16464769;NT GT ./. 1 16464926 . C . . NT END=16474872;NT GT ./. 1 16474701 rs6603867 G A 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.653,A/0.347;Gene=EPHA2/NM_004431.3/1;CC=c.823+172C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:9,8:275,259:26.70,0.00:26.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:46.4,15.2:0,0:0,0:48,48:102,102:37,10:NM_004431.3(EPHA2) c.823+172C>T,-:0.34,-:NOT_FOUND,- 1 16474839 rs35127370 AC A 142 nt VT=DEL;SST=Single;DP=92;DB;DBA=NA;PAF=AC/0.6526,A/0.3474;NP=2022;Gene=EPHA2/NM_004431.3/1;CC=c.823+33delG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,G,T,A:92:83:0:48:42,1,1,48:1285,13,12,1466:0.00,0.01,-0.03,142.49:0.00,0.05,-0.15,112.42:0.00,-0.05,0.12,30.07:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:5.6,38.0,35.0,13.4:0,0,0,0:0,0,0,0:37,146,34,57:110,5,116,93:23,0,0,26:-,NM_004431.3(EPHA2) c.823+33delG:-,0.34:-,0.422659 1 16475123 rs6678616 C T 330 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=217;DB;DBA=NA;PAF=C/0.7736,T/0.2264;PC=0.705;Gene=EPHA2/NM_004431.3/1;CC=c.573G>A;ProtCh=p.L191=;VC=Silent;DM=EPHA2/Ephrin_lbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:217:147:0:0:103,114:3373,3410:0.00,330.05:0.00,162.62:0.00,167.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,66.9:0,0:0,0:79,69:71,82:38,35:-,NM_004431.3(EPHA2) c.573G>A (p.(=)):-,0.23:-,0.284945 1 16475126 rs6678618 C T 354 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=223;DB;DBA=NA;PAF=C/0.7734,G/.,T/0.2266;Gene=EPHA2/NM_004431.3/1;CC=c.570G>A;ProtCh=p.A190=;VC=Silent;DM=EPHA2/Ephrin_lbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:223:149:0:0:105,1,117:3289,13,3647:0.00,-0.09,353.77:0.00,-0.09,175.40:0.00,-0.01,178.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.6,101.0,65.6:0,0,0:0,0,0:74,64,72:71,87,79:38,0,36:-,NM_004431.3(EPHA2) c.570G>A (p.(=)):-,0.23:-,0.284869 1 16475543 . C . . NT END=16477390;NT GT ./. 1 16477459 . C . . NT END=16479647;NT GT ./. 1 16479505 rs6684516 T C 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3536,C/0.6464;Gene=EPHA2/NM_004431.3/1;CC=c.86-2047A>G;VC=Intron;DM=EPHA2/Ephrin_lbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,T:15:15:0:0:9,6:258,183:25.70,0.00:25.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.9,30.0:0,0:0,0:45,46:106,104:30,26:NM_004431.3(EPHA2) c.86-2047A>G,-:0.67,-:NOT_FOUND,- 1 16479625 rs398073800 GA G 214 idl,rn VT=DEL;SST=Single;DP=78;DB;DBA=NA;PAF=GA/0.2951,G/0.7049;DB;DBA=NA;PAF=GA/0.2951,G/0.7049;NP=5;Gene=EPHA2/NM_004431.3/1;CC=c.86-2168delT;VC=Intron;DM=EPHA2/Ephrin_lbd;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:GA,G:73:69:0:68:10,63:261,2109:0.00,213.90:0.00,154.86:0.00,59.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.1,7.0:1,5:0,0:2,46:148,100:2,30:-,NM_004431.3(EPHA2) c.86-2168delT:-,NOT_FOUND:-,NOT_FOUND 1 16479626 rs373072060 A G 27 idl;end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6384,G/0.3616;Gene=EPHA2/NM_004431.3/1;CC=c.86-2168T>C;VC=Intron;DM=EPHA2/Ephrin_lbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,G:11:9:0:68:2,9:57,251:0.00,27.12:0.00,23.87:0.00,3.25:0.00,1.00:0.00,1.00:0.00,0.97:60,60:5.0,57.7:1,0:0,0:42,2:106,147:13,1:-,NM_004431.3(EPHA2) c.86-2168T>C:-,NOT_FOUND:-,NOT_FOUND 1 16479809 . C . . NT END=16482342;NT GT ./. 1 16482428 . G . . NT END=16525081;NT GT ./. 1 16492210 . GCA G 10 rn VT=DEL;SST=Single;DP=4;NP=63;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GCA,G:4:4:0:3:1,3:36,98:0.00,10.25:0.00,5.13:0.00,5.13:0.00,0.85:0.00,0.85:0.00,0.85:60,60:0.0,0.0:0,0:0,0:94,21:56,76:0,4:-,chr1 g.16492211_16492212delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16525240 . C . . NT END=16525644;NT GT ./. 1 16525333 rs74394813 C T 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9631,T/0.03694;Gene=ARHGEF19/NM_153213.3/1;CC=c.2252-94G>A;VC=Intron;DM=ARHGEF19/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:8:0:0:22,22:734,645:0.00,61.69:0.00,2.17:0.00,59.52:0.00,1.00:0.00,0.87:0.00,1.00:60,60:9.7,36.7:0,0:0,0:72,73:79,78:38,45:-,NM_153213.3(ARHGEF19) c.2252-94G>A:-,0.05:-,NOT_FOUND 1 16525657 rs148325785 A G 67 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.995,G/0.004992;NP=81;PC=0.005;Gene=ARHGEF19/NM_153213.3/1;CC=c.2239T>C;ProtCh=p.W747R;VC=Missense;DM=ARHGEF19/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:55:43:0:0:29,1,24,1:1002,7,716,36:0.00,-0.15,67.11,2.11:0.00,-0.11,38.46,1.05:0.00,-0.04,28.65,1.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:3.7,7.0,41.5,36.0:0,0,0,0:0,0,0,0:47,47,50,114:100,104,94,37:28,0,31,0:-,NM_153213.3(ARHGEF19) c.2239T>C (p.Trp747Arg):-,0.01:-,0.008996 1 16525750 . C . . NT END=16528276;NT GT ./. 1 16528357 . C . . NT END=16528910;NT GT ./. 1 16528843 rs1693540 A G 98 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.1861,G/0.8139;PC=0.409;Gene=ARHGEF19/NM_153213.3/1;CC=c.2066+68T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:61:0:0:32,32:969,1019:0.00,97.94:0.00,81.17:0.00,16.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,38.2:0,0:0,0:44,34:106,113:34,24:-,NM_153213.3(ARHGEF19) c.2066+68T>C:-,0.81:-,NOT_FOUND 1 16529070 . C . . NT END=16531253;NT GT ./. 1 16531415 . C . . NT END=16531581;NT GT ./. 1 16531672 . C . . NT END=16531845;NT GT ./. 1 16531921 . C . . NT END=16532032;NT GT ./. 1 16532163 . C . . NT END=16532425;NT GT ./. 1 16532498 rs41269185 G A 233 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.9635,A/0.03654;PC=1.000;Gene=ARHGEF19/NM_153213.3/1;CC=c.1379C>T;ProtCh=p.P460L;VC=Missense;DM=ARHGEF19/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:141:103:0:0:71,70:2411,2098:232.72,0.00:131.94,0.00:100.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,8.9:0,0:0,0:63,79:86,69:39,37:NM_153213.3(ARHGEF19) c.1379C>T (p.Pro460Leu),-:0.05,-:0.086896,- 1 16532579 . C . . NT END=16532674;NT GT ./. 1 16532836 . C . . NT END=16533442;NT GT ./. 1 16533706 . C . . NT END=16534016;NT GT ./. 1 16534094 . C . . NT END=16534169;NT GT ./. 1 16534273 . C . . NT END=16534438;NT GT ./. 1 16534721 . C . . NT END=16535137;NT GT ./. 1 16535550 . T . . NT END=16558542;NT GT ./. 1 16558793 . C . . NT END=16559004;NT GT ./. 1 16559142 . C . . NT END=16559387;NT GT ./. 1 16559513 . C . . NT END=16560106;NT GT ./. 1 16559541 rs3738631 C G 227 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.6919,G/0.3081;PC=0.414;Gene=RSG1/NM_030907.3/1;CC=c.266-29G>C;VC=Intron;DM=RSG1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:C,G:61:21:0:0:1,60:10,1997:0.00,226.60:0.00,51.99:0.00,174.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:126.0,39.3:0,0:0,0:131,99:19,48:0,30:NM_030907.3(RSG1) c.266-29G>C,NM_030907.3(RSG1) c.266-29G>C:0.31,0.31:0.406812,0.406812 1 16559719 rs116323786 G A 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9942,A/0.005791;NP=3;PC=0.001;Gene=RSG1/NM_030907.3/1;CC=c.266-207C>T;VC=Intron;DM=RSG1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,G:12:1:0:0:8,4:248,123:25.30,0.00:3.70,0.00:21.60,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:57.1,32.2:0,0:0,0:49,108:101,42:34,2:NM_030907.3(RSG1) c.266-207C>T,-:0.01,-:NOT_FOUND,- 1 16560260 . C . . NT END=16563125;NT GT ./. 1 16562968 rs6603850 C A 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3397,A/0.6603;PC=0.002;Gene=RSG1/NM_030907.3/1;CC=c.112+158G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:16:0:0:16:516:59.21:59.21:0.00:1.00:1.00:0.00:60:36.9:0:0:43:108:21:NM_030907.3(RSG1) c.112+158G>T,NM_030907.3(RSG1) c.112+158G>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 16563238 . G . . NT END=16577164;NT GT ./. 1 16567553 . C CT 11 idl,rn VT=INS;SST=Single;DP=17;NP=1;PC=0.425;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,CT,D:14:17:5:3:9,4,1:273,162,99:0.00,11.25,2.31:0.00,11.25,2.31:0.00,0.00,0.00:0.00,0.74,0.00:0.00,0.74,0.00:0.00,0.00,0.00:60,60,60:39.3,106.0,152.0:0,1,2:0,0,0:114,22,29:22,129,122:19,5,5:-,NM_030907.3(RSG1) c.-422-u3895_-422-u3894insA:-,NOT_FOUND:-,NOT_FOUND 1 16567622 rs6672616 T C 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.8618,C/0.1382;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:50:49:0:0:2,24,24:24,776,645:0.46,74.67,0.00:0.46,71.46,0.00:-0.01,3.22,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.77,0.00:60,60,60:58.5,58.1,16.1:0,0,0:0,0,0:116,40,39:15,110,112:17,14,12:NM_030907.3(RSG1) c.-422-u3963A>G,-:0.15,-:NOT_FOUND,- 1 16576836 rs7536390 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7294,G/0.2706;PC=0.998;Gene=FBXO42/NM_018994.2/1;CC=c.*329T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:92:11.04:11.04:0.00:1.00:1.00:0.00:60:54.2:0:0:68:80:33:NM_018994.1(FBXO42) c.*329T>C,NM_018994.1(FBXO42) c.*329T>C:0.3,0.3:NOT_FOUND,NOT_FOUND 1 16577908 rs12069239 G C 515 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=G/0.7292,C/0.2708,T/.;PC=0.013;Gene=FBXO42/NM_018994.2/1;CC=c.1411C>G;ProtCh=p.P471A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:135:81:0:0:1,134:12,4518:0.12,515.19:0.00,244.87:0.12,270.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,39.0:0,0:0,0:114,76:37,71:0,37:NM_018994.1(FBXO42) c.1411C>G (p.Pro471Ala),NM_018994.1(FBXO42) c.1411C>G (p.Pro471Ala):0.3,0.3:0.38044,0.38044 1 16578281 . C . . NT END=16578782;NT GT ./. 1 16578900 . C . . NT END=16579590;NT GT ./. 1 16579070 rs4661729 C T 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7544,T/0.2456;Gene=FBXO42/NM_018994.2/1;CC=c.922-171G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:386:44.32:0.00:44.32:1.00:0.00:1.00:60:35.3:0:0:109:41:32:NM_018994.1(FBXO42) c.922-171G>A,NM_018994.1(FBXO42) c.922-171G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 1 16579648 . C . . NT END=16580129;NT GT ./. 1 16580227 . C . . NT END=16582205;NT GT ./. 1 16582317 . C . . NT END=16583100;NT GT ./. 1 16583030 rs530557536 C CA 120 rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.8179,CA/0.1777;DB;DBA=NA;PAF=C/0.8179,CA/0.1777;DB;DBA=NA;PAF=C/0.8179,CA/0.1777,CAA/0.004393;NP=1387;NP=4;PC=0.001;Gene=FBXO42/NM_018994.2/1;CC=c.656+70_656+71insT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,CA:38:38:34:0:4,34:132,1092:0.00,119.86:0.00,100.16:0.00,19.71:0.00,1.00:0.00,1.00:0.00,1.00:60,70:22.0,2.5:1,0:0,0:142,42:6,102:3,22:-,NM_018994.1(FBXO42) c.656+70_656+71insT:-,NOT_FOUND:-,NOT_FOUND 1 16583255 . C . . NT END=16621277;NT GT ./. 1 16583478 rs12136429 T A 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8179,A/0.1821;PC=0.002;Gene=FBXO42/NM_018994.2/1;CC=c.503-224A>T;VC=Intron;DM=FBXO42/Kelch_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:34.2:0:0:123:27:12:NM_018994.1(FBXO42) c.503-224A>T,NM_018994.1(FBXO42) c.503-224A>T:0.22,0.22:NOT_FOUND,NOT_FOUND 1 16597203 rs76347499 A AAAG 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.005591,AAAG/0.9944;DB;DBA=NA;PAF=A/0.005591,AAAG/0.9944;NP=278;NP=3;Gene=FBXO42/NM_018994.2/1;CC=c.503-13950_503-13949insCTT;VC=Intron;DM=FBXO42/Kelch_3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,AAAG:5:2:3:1:2,3:42,90:0.00,8.99:0.00,6.51:0.00,2.48:0.00,0.78:0.00,0.87:0.00,0.94:60,60:101.0,22.0:0,0:0,0:47,88:88,63:16,30:-,NM_018994.1(FBXO42) c.503-13950_503-13949insCTT:-,0.99:-,NOT_FOUND 1 16621183 rs1007150 C T 133 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.3708,T/0.6292;Gene=FBXO42/NM_018994.2/1;CC=c.502+95G>A;VC=Intron;DM=FBXO42/Kelch_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:31:0:0:35:1160:132.64:103.81:28.83:1.00:1.00:1.00:60:40.3:0:0:56:95:33:NM_018994.1(FBXO42) c.502+95G>A,NM_018994.1(FBXO42) c.502+95G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 16621413 . C . . NT END=16632297;NT GT ./. 1 16632188 rs61769833 G A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.9621,A/0.03794;PC=0.006;Gene=FBXO42/NM_018994.2/1;CC=c.367+110C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G:18:18:0:0:6,12:178,364:15.69,0.00:15.69,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:29.7,7.4:0,0:0,0:52,67:97,83:13,34:NM_018994.1(FBXO42) c.367+110C>T,-:0.05,-:NOT_FOUND,- 1 16632415 . C . . NT END=16641663;NT GT ./. 1 16641513 rs67963098 C G 96 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.8187,G/0.1813;PC=0.001;Gene=FBXO42/NM_018994.2/1;CC=c.250+151G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:G:30:30:0:0:30:824:96.42:96.42:0.00:1.00:1.00:0.00:60:33.5:0:0:78:71:40:NM_018994.1(FBXO42) c.250+151G>C,NM_018994.1(FBXO42) c.250+151G>C:0.22,0.22:NOT_FOUND,NOT_FOUND 1 16641914 . G . . NT END=16725259;NT GT ./. 1 16725318 . C . . NT END=16725838;NT GT ./. 1 16725818 rs41310375 A G 80 nt VT=SNV;PN=G;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.9211,G/0.07887;Gene=SPATA21/NM_198546.1/1;CC=c.1352+21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:62:59:0:0:34,1,27:1021,11,856:0.00,-0.05,80.32:0.00,-0.18,60.54:0.00,0.13,19.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.3,33.0,40.9:0,0,0:0,0,0:67,28,40:79,123,111:29,0,22:-,NM_198546.1(SPATA21) c.1352+21T>C:-,0.09:-,0.130248 1 16726017 . C . . NT END=16726976;NT GT ./. 1 16726036 rs61769432 A G 93 nt VT=SNV;PN=G;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.9605,G/0.03954;PC=0.062;Gene=SPATA21/NM_198546.1/1;CC=c.1175-20T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:39:0:0:46,31:1429,1003:0.00,92.57:0.00,28.66:0.00,63.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,39.8:0,0:0,0:102,108:43,43:23,14:-,NM_198546.1(SPATA21) c.1175-20T>C:-,0.05:-,0.093188 1 16726902 rs61769433 G A 85 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.9621,A/0.03794;PC=0.003;Gene=SPATA21/NM_198546.1/1;CC=c.1174+313C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:50:0:0:28,24:872,737:84.93,0.00:74.68,0.00:10.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,2.9:0,0:0,0:34,32:115,117:21,23:NM_198546.1(SPATA21) c.1174+313C>T,-:0.05,-:NOT_FOUND,- 1 16727131 . C . . NT END=16727214;NT GT ./. 1 16727305 rs80260069 G GCTT 251 PASS VT=INS;SST=Single;DP=156;DB;DBA=NA;PAF=G/0.9008,GCTT/0.09924;DB;DBA=NA;PAF=G/0.9008,GCTT/0.09924;NP=781;PC=0.855;Gene=SPATA21/NM_198546.1/1;CC=c.1081_1083dupAAG;ProtCh=p.K361_L362insK;VC=InFrameIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCTT:156:98:82:0:74,82:2479,2592:0.00,251.47:0.00,116.14:0.00,135.33:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.9,6.7:2,0:0,0:76,72:67,77:27,33:-,NM_198546.1(SPATA21) c.1081_1083dupAAG (p.Lys361dup):-,0.11:-,0.155671 1 16727388 . C . . NT END=16730221;NT GT ./. 1 16730340 . C . . NT END=16730462;NT GT ./. 1 16730413 rs61769436 C T 119 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.9627,T/0.03734;Gene=SPATA21/NM_198546.1/1;CC=c.883+50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:61:38:0:0:24,1,36:741,8,1198:0.00,-0.07,119.46:0.00,-0.08,57.89:0.00,0.01,61.57:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.0,26.0,43.1:0,0,0:0,0,0:60,9,50:90,142,96:40,0,31:-,NM_198546.1(SPATA21) c.883+50G>A:-,0.05:-,0.090958 1 16730535 . C . . NT END=16731461;NT GT ./. 1 16731276 rs513145 T C 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.5367,C/0.4633;Gene=SPATA21/NM_198546.1/1;CC=c.811+186A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,T:20:20:0:0:4,16:142,430:11.78,0.00:11.78,0.00:0.00,0.00:0.71,0.00:0.71,0.00:0.00,0.00:60,60:44.5,19.0:0,0:0,0:53,33:97,117:20,23:NM_198546.1(SPATA21) c.811+186A>G,-:0.53,-:NOT_FOUND,- 1 16731600 . C . . NT END=16734992;NT GT ./. 1 16731646 rs3106498 T C 210 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.03894,C/0.9611;Gene=SPATA21/NM_198546.1/1;CC=c.674-47A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:A,C:61:22:0:0:1,60:10,1819:0.15,210.03:0.00,47.01:0.15,163.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:75.0,68.9:0,0:0,0:120,105:31,44:0,18:NM_198546.1(SPATA21) c.674-47A>G,NM_198546.1(SPATA21) c.674-47A>G:0.94,0.94:0.960627,0.960627 1 16731647 rs526481 G C 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.5371,A/.,C/0.4629,T/.;Gene=SPATA21/NM_198546.1/1;CC=c.674-48C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:60:22:0:0:29,31:972,939:93.02,0.00:22.42,0.00:70.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:99.0,41.6:0,0:0,0:106,100:42,49:15,28:NM_198546.1(SPATA21) c.674-48C>G,-:0.47,-:0.272573,- 1 16731661 rs526513 T C 94 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.5369,C/0.4631;Gene=SPATA21/NM_198546.1/1;CC=c.674-62A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:17:0:0:28,24:959,723:93.68,0.00:20.34,0.00:73.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.8,44.5:0,0:0,0:122,111:26,38:16,19:NM_198546.1(SPATA21) c.674-62A>G,-:0.53,-:NOT_FOUND,- 1 16731756 rs61769437 G T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9643,T/0.03574;PC=0.026;Gene=SPATA21/NM_198546.1/1;CC=c.674-157C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,T:17:0:0:0:10,7:299,194:0.00,17.70:0.00,0.00:0.00,17.70:0.00,0.98:0.00,0.00:0.00,0.98:60,60:43.1,64.7:0,0:0,0:101,80:49,71:31,47:-,NM_198546.1(SPATA21) c.674-157C>A:-,0.05:-,NOT_FOUND 1 16735051 . g . . NT END=16735612;NT GT ./. 1 16735403 rs71003282 G GC 15 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=158;PC=0.002;Gene=SPATA21/NM_198546.1/1;CC=c.673+209_673+210insG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:G,GC:10:8:5:0:5,5:140,152:0.00,14.59:0.00,7.64:0.00,6.95:0.00,0.95:0.00,0.87:0.00,0.79:60,60:10.6,26.0:0,0:0,0:46,38:105,92:31,27:-,NM_198546.1(SPATA21) c.673+209_673+210insG:-,NOT_FOUND:-,NOT_FOUND 1 16735699 . C . . NT END=16736095;NT GT ./. 1 16736132 rs4661746 T C 207 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=T/0.8472,C/0.1528;Gene=SPATA21/NM_198546.1/1;CC=c.551A>G;ProtCh=p.Q184R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:145:116:0:0:1,70,74:12,2167,2454:-0.11,206.75,0.00:-0.14,135.58,0.00:0.03,71.17,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:109.0,42.1,6.0:0,0,0:0,0,0:28,63,71:79,83,78:0,40,29:NM_198546.1(SPATA21) c.551A>G (p.Gln184Arg),-:0.2,-:0.238659,- 1 16736327 rs41269197 G A 313 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=G/0.9768,A/0.02316;PC=0.016;Gene=SPATA21/NM_198546.1/1;CC=c.356C>T;ProtCh=p.P119L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:185:126:0:0:95,1,89:3226,5,2712:312.62,-0.18,0.00:159.10,-0.10,0.00:153.52,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.2,159.0,7.6:0,0,0:0,0,0:76,87,71:75,64,77:30,0,34:NM_198546.1(SPATA21) c.356C>T (p.Pro119Leu),-:0.03,-:0.046363,- 1 16736539 . C . . NT END=16748003;NT GT ./. 1 16736546 rs10907226 C T 285 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.3794,T/0.6206;PC=0.196;Gene=SPATA21/NM_198546.1/1;CC=c.145-8G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:79:36:0:0:79:2474:284.92:76.78:208.15:1.00:1.00:1.00:60:39.3:1:0:98:46:27:NM_198546.1(SPATA21) c.145-8G>A,NM_198546.1(SPATA21) c.145-8G>A:0.7,0.7:0.647012,0.647012 1 16736738 rs11584737 G A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7672,A/0.2328;PC=0.560;Gene=SPATA21/NM_198546.1/1;CC=c.145-200C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:6:0:0:0:5,1:143,33:15.51,0.00:0.00,0.00:15.51,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:38.0,0.0:0,0:0,0:71,133:80,18:24,0:NM_198546.1(SPATA21) c.145-200C>T,-:0.26,-:NOT_FOUND,- 1 16748053 . C . . NT END=16748405;NT GT ./. 1 16748432 rs114456729 C T 165 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.9756,T/0.02436;Gene=SPATA21/NM_198546.1/1;CC=c.69G>A;ProtCh=p.T23=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:89:0:0:50,56:1675,1704:0.00,165.14:0.00,108.22:0.00,56.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,36.0:0,0:0,0:55,54:90,86:25,29:-,NM_198546.1(SPATA21) c.69G>A (p.(=)):-,0.03:-,0.050515 1 16748690 . C . . NT END=16752018;NT GT ./. 1 16752227 . C . . NT END=16754358;NT GT ./. 1 16754152 rs78249241 A T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9766,T/0.02336;PC=0.044;Gene=SPATA21/NM_198546.1/1;CC=c.34+3681T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,T:10:10:0:0:5,5:142,116:0.00,10.90:0.00,10.90:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:26.0,51.8:0,0:0,0:65,65:85,83:15,7:-,NM_198546.1(SPATA21) c.34+3681T>A:-,0.03:-,NOT_FOUND 1 16754511 . C . . NT END=16757737;NT GT ./. 1 16754691 rs6693454 G A 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9515,A/0.04852;Gene=SPATA21/NM_198546.1/1;CC=c.34+3142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:9,11:273,329:25.60,0.00:0.00,0.00:25.60,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.7,6.8:0,0:0,0:107,93:42,56:19,17:NM_198546.1(SPATA21) c.34+3142C>T,-:0.05,-:NOT_FOUND,- 1 16757867 . G . . NT END=16767256;NT GT ./. 1 16767349 . G . . NT END=16770126;NT GT ./. 1 16767359 rs114024565 A G 122 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.975,G/0.02496;PC=0.001;Gene=NECAP2/NM_001145277.1/0;CC=c.92+11A>G;VC=Intron;Gene=NECAP2/NM_001145278.1/1;CC=c.14+89A>G;VC=Intron;Gene=NECAP2/NM_018090.4/0;CC=c.92+11A>G;VC=Intron;DM=NECAP2/DUF1681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:71:34:0:0:32,39:1000,1248:0.00,121.94:0.00,31.70:0.00,90.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,39.4:0,0:0,0:100,93:48,58:26,27:-,NM_001145277.1(NECAP2) c.92+11A>G:-,0.04:-,0.053821 1 16767506 rs2783371 T C 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.002396,C/0.9976;NP=780;PC=0.599;Gene=NECAP2/NM_001145277.1/0;CC=c.92+158T>C;VC=Intron;Gene=NECAP2/NM_001145278.1/1;CC=c.14+236T>C;VC=Intron;Gene=NECAP2/NM_018090.4/0;CC=c.92+158T>C;VC=Intron;DM=NECAP2/DUF1681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:395:46.62:0.00:46.62:1.00:0.00:1.00:60:53.2:0:0:113:37:36:NM_001145277.1(NECAP2) c.92+158T>C,NM_001145277.1(NECAP2) c.92+158T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 16769841 rs60591666 C G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9848,G/0.01518;Gene=NECAP2/NM_001145277.1/0;CC=c.93-286C>G;VC=Intron;Gene=NECAP2/NM_001145278.1/1;CC=c.15-286C>G;VC=Intron;Gene=NECAP2/NM_018090.4/0;CC=c.93-286C>G;VC=Intron;DM=NECAP2/DUF1681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:51.5:0:0:45:105:20:NM_001145277.1(NECAP2) c.93-286C>G,NM_001145277.1(NECAP2) c.93-286C>G:0.02,0.02:NOT_FOUND,NOT_FOUND 1 16769949 rs12064256 G A 66 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.9223,A/0.07768;PC=0.004;Gene=NECAP2/NM_001145277.1/0;CC=c.93-178G>A;VC=Intron;Gene=NECAP2/NM_001145278.1/1;CC=c.15-178G>A;VC=Intron;Gene=NECAP2/NM_018090.4/0;CC=c.93-178G>A;VC=Intron;DM=NECAP2/DUF1681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:19:0:0:19:568:65.79:65.79:0.00:1.00:1.00:0.00:60:51.8:0:0:44:107:30:NM_001145277.1(NECAP2) c.93-178G>A,NM_001145277.1(NECAP2) c.93-178G>A:0.09,0.09:NOT_FOUND,NOT_FOUND 1 16770228 . G . . NT END=16774364;NT GT ./. 1 16774280 rs141897360 C T 105 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.998,T/0.001997;NP=38;Gene=NECAP2/NM_001145277.1/0;CC=c.194-85C>T;VC=Intron;Gene=NECAP2/NM_001145278.1/1;CC=c.116-85C>T;VC=Intron;Gene=NECAP2/NM_018090.4/0;CC=c.194-85C>T;VC=Intron;DM=NECAP2/DUF1681;DM=NECAP2/DUF1681;DM=NECAP2/DUF1681;DM=NECAP2/DUF1681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:30:0:0:30:907:104.95:95.51:9.44:1.00:1.00:1.00:60:53.2:0:0:53:97:29:NM_001145277.1(NECAP2) c.194-85C>T,NM_001145277.1(NECAP2) c.194-85C>T:0.0037,0.0037:NOT_FOUND,NOT_FOUND 1 16774470 . G . . NT END=16774554;NT GT ./. 1 16774637 . G . . NT END=16775587;NT GT ./. 1 16775697 . G . . NT END=16778332;NT GT ./. 1 16778511 . G . . NT END=16782312;NT GT ./. 1 16782389 . G . . NT END=16785336;NT GT ./. 1 16782519 . CT C 8 rn VT=DEL;SST=Single;DP=12;NP=7;PC=0.026;Gene=NECAP2/NM_001145277.1/0;CC=c.668-2802delT;VC=Intron;Gene=NECAP2/NM_001145278.1/1;CC=c.665+147delT;VC=Intron;Gene=NECAP2/NM_018090.4/0;CC=c.743+147delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:CT,T,C:11:0:0:4:7,1,3:212,10,124:0.00,0.24,8.26:0.00,0.00,0.00:0.00,0.24,8.26:0.00,0.00,0.59:0.00,0.00,0.00:0.00,0.00,0.59:60,52,60:1.6,95.0,15.7:0,1,1:0,0,0:135,91,92:15,24,58:15,0,15:-,NM_001145277.1(NECAP2) c.668-2817delT:-,NOT_FOUND:-,NOT_FOUND 1 16785492 . A . . NT END=17083726;NT GT ./. 1 16796944 rs157133 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3037,T/0.6963;PC=0.010;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:121:14.01:5.11:8.89:1.00:1.00:1.00:60:47.5:0:0:103:33:5:NR_023386.1(CROCCP3) n.2677-322G>A,NR_023386.1(CROCCP3) n.2677-322G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 16803267 rs156846 T C 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3099,C/0.6901;PC=0.003;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:20:0:0:22:666:76.99:67.60:9.39:1.00:1.00:1.00:59:44.3:0:0:57:90:43:NR_023386.1(CROCCP3) n.2332+158A>G,NR_023386.1(CROCCP3) n.2332+158A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 16804438 rs156848 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7979,T/0.2021;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:33.8:0:0:26:124:14:NR_023386.1(CROCCP3) n.2187+312G>A,NR_023386.1(CROCCP3) n.2187+312G>A:0.21,0.21:NOT_FOUND,NOT_FOUND 1 16804623 rs143283557 C T 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9878,T/0.01218;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:13:0:0:13:414:47.58:47.58:0.00:1.00:1.00:0.00:60:68.4:0:0:86:65:38:NR_023386.1(CROCCP3) n.2187+127G>A,NR_023386.1(CROCCP3) n.2187+127G>A:0.02,0.02:NOT_FOUND,NOT_FOUND 1 16804683 rs12095899 C T 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.986,T/0.01398;PC=0.001;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:21:0:0:23:741:84.99:74.41:10.58:1.00:1.00:1.00:60:55.0:0:0:39:112:27:NR_023386.1(CROCCP3) n.2187+67G>A,NR_023386.1(CROCCP3) n.2187+67G>A:0.02,0.02:NOT_FOUND,NOT_FOUND 1 16809946 rs185059648 C T 253 nt VT=SNV;PN=G;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.9952,T/0.004792;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:73:36:0:0:1,72:11,2194:0.17,253.01:0.17,72.57:0.00,180.44:0.00,1.00:0.00,1.00:0.00,1.00:57,60:47.0,35.2:0,0:0,0:147,89:4,57:0,35:NR_023386.1(CROCCP3) n.1840G>A,NR_023386.1(CROCCP3) n.1840G>A:0.02,0.02:NOT_FOUND,NOT_FOUND 1 16812113 rs200988154 G A 12 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.282;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G,T:61:52:0:0:5,55,1:169,1751,15:11.81,0.00,0.00:11.31,0.00,0.17:0.50,0.00,-0.17:0.69,0.00,0.00:0.95,0.00,0.00:0.90,0.00,0.00:33,60,27:46.8,2.4,22.0:0,0,0:0,0,0:11,59,150:139,80,1:5,25,0:NR_023386.1(CROCCP3) n.1439C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16812796 rs115515869 G A 83 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9878,A/0.01218;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:23:0:0:23:724:83.30:83.30:0.00:1.00:1.00:0.00:60:39.1:0:0:64:86:29:NR_023386.1(CROCCP3) n.1391+125C>T,NR_023386.1(CROCCP3) n.1391+125C>T:0.02,0.02:NOT_FOUND,NOT_FOUND 1 16812919 . A T 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=81;PC=1.000;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,G,T:81:70:0:0:74,1,6:2375,6,200:0.00,-0.35,13.62:0.00,-0.24,6.24:0.00,-0.10,7.38:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.83:60,49,42:9.3,109.0,136.2:0,0,0:0,0,0:40,8,11:105,132,130:28,0,2:-,NR_023386.1(CROCCP3) n.1391+2T>A:-,NOT_FOUND:-,NOT_FOUND 1 16812950 . A G 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=112;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:112:99:0:0:94,18:3004,634:0.00,50.56:0.00,23.79:0.00,26.77:0.00,1.00:0.00,1.00:0.00,1.00:60,53:6.2,124.1:0,0:0,0:52,26:97,100:29,16:-,NR_023386.1(CROCCP3) n.1362T>C:-,NOT_FOUND:-,NOT_FOUND 1 16812970 . C A 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=126;NP=11;PC=1.000;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:126:109:0:0:22,104:727,3487:57.86,0.00:27.31,0.00:30.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:116.3,4.7:0,0:0,0:40,58:80,88:16,28:NR_023386.1(CROCCP3) n.1342G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16812982 . A C 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=136;NP=49;PC=0.713;Gene=CROCCP3/NR_023386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:136:114:0:0:114,22:3697,762:0.00,60.58:0.00,29.07:0.00,31.51:0.00,1.00:0.00,1.00:0.00,1.00:60,55:3.4,113.2:0,0:0,0:55,45:90,68:28,17:-,NR_023386.1(CROCCP3) n.1330T>G:-,NOT_FOUND:-,NOT_FOUND 1 16840486 rs1853530 G C 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:C,G:5:5:0:0:4,1:112,29:12.01,0.00:12.01,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,52:237.2,179.0:0,0:0,0:28,20:122,97:5,0:chr1 g.16840485G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16840506 rs3983073 CAT C 13 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:CAT,C:5:5:0:4:1,4:32,125:0.00,13.32:0.00,13.32:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:52,60:179.0,237.2:0,0:0,0:40,48:77,102:0,5:-,chr1 g.16840507_16840508delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16840509 rs2418621 A C 17 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5471,C/0.4529 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:143:16.66:16.66:0.00:1.00:1.00:0.00:60:225.6:4:0:49:101:6:chr1 g.16840508A>C (intergenic),chr1 g.16840508A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16840514 rs78982888 C G 14 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,G:5:5:0:0:1,4:30,127:0.00,13.52:0.00,13.52:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:52,60:179.0,237.2:0,4:0,0:48,54:69,96:0,5:-,chr1 g.16840513C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16840517 rs3981663 C T 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,T:6:6:0:0:2,4:52,135:0.00,13.75:0.00,13.75:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:89.5,237.2:0,0:0,0:26,57:107,93:25,5:-,chr1 g.16840516C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16840541 rs56140239 A G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,G:11:11:0:0:2,9:67,255:0.00,27.41:0.00,27.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,189.2:0,0:0,0:19,53:131,98:5,29:-,chr1 g.16840540A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16840567 rs55869970 A G 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:19:0:0:8,12:230,397:0.00,39.59:0.00,37.95:0.00,1.64:0.00,1.00:0.00,1.00:0.00,0.73:60,60:78.5,114.0:0,0:0,0:40,35:111,115:17,25:-,chr1 g.16840566A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16840584 rs3981637 G A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6336,A/0.3664;NP=499;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,G:25:24:0:0:5,20:160,613:12.96,0.00:13.05,0.00:-0.10,0.00:0.83,0.00:0.98,0.00:0.47,0.00:40,60:212.6,49.8:0,0:0,0:76,32:65,119:19,19:chr1 g.16840583G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16840783 rs201225871 A G 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=6;PC=0.059 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:75:66:0:0:61,14:1922,457:0.00,36.71:0.00,17.71:0.00,19.00:0.00,1.00:0.00,1.00:0.00,0.97:60,40:4.7,138.2:0,0:0,0:51,32:99,119:29,20:-,NR_004430.2(RNU1-1) n.-3T>C:-,NOT_FOUND:-,NOT_FOUND 1 16840785 . C G 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;NP=1;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:75:66:0:0:61,13,1:1938,386,32:0.00,29.92,1.45:0.00,12.94,1.50:0.00,16.98,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.96,0.00:60,40,7:4.7,135.9,168.0:0,0,0:0,0,0:53,36,15:97,115,136:28,19,0:-,NR_004430.2(RNU1-1) n.-5G>C:-,NOT_FOUND:-,NOT_FOUND 1 16840786 rs156902 G C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.03854,C/0.9615 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:77:68:0:0:15,62:424,1776:33.19,0.00:17.65,0.00:15.54,0.00:1.00,0.00:1.00,0.00:0.98,0.00:55,60:132.7,4.9:0,0:0,0:33,38:118,104:22,24:NR_004430.2(RNU1-1) n.-6C>G,-:0.95,-:NOT_FOUND,- 1 16840790 rs61769510 T G 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:84:74:0:0:20,64:564,1978:45.94,0.00:22.72,0.00:23.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:110.8,6.4:0,0:0,0:24,42:114,104:21,26:NR_004430.2(RNU1-1) n.-10A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16841215 rs180705486 G T 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9906,T/0.009385;NP=33;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:0:0:0:28:922:105.55:0.00:105.55:1.00:0.00:1.00:56:39.4:0:0:101:48:20:NR_004430.2(RNU1-1) n.-435C>A,NR_004430.2(RNU1-1) n.-435C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16875142 rs200706186 C T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=6;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,T:29:22:0:0:26,3:818,96:0.00,6.85:0.00,7.30:0.00,-0.45:0.00,0.43:0.00,0.82:0.00,0.65:40,40:2.1,106.7:0,0:0,0:43,66:107,81:17,4:-,chr1 g.16875141C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16875190 rs666802 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4778,T/0.5222;NP=12;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,T:31:20:0:0:28,3:891,102:0.00,7.35:0.00,7.95:0.00,-0.60:0.00,0.42:0.00,0.77:0.00,0.70:40,40:6.0,56.7:0,0:0,0:85,52:65,99:22,48:-,chr1 g.16875189C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16875422 rs5772681 TG T 7 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.154;Gene=MIR3675/NR_037446.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:TG,T:29:10:0:4:25,4:751,103:0.00,7.18:0.00,4.08:0.00,3.09:0.00,0.65:0.00,0.71:0.00,0.93:60,43:12.3,35.0:0,0:0,0:45,46:106,104:30,28:-,chr1 g.16875423delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16875489 rs525286 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=49;PC=0.046 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,G:25:1:0:0:4,21:119,702:9.04,0.00:1.59,0.00:7.45,0.00:0.67,0.00:0.44,0.00:0.67,0.00:43,60:73.0,9.5:0,0:0,0:84,102:66,49:21,26:chr1 g.16875488G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16877444 rs79270280 T A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=2241;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:A,T:124:69:0:0:10,114:315,3653:21.29,0.00:13.46,0.00:7.84,0.00:0.97,0.00:0.98,0.00:1.00,0.00:43,60:45.3,6.8:0,0:0,0:22,63:118,84:10,38:chr1 g.16877443T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16877598 rs200455256 C T 8 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=60 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:36:10:0:0:32,4:1009,119:0.00,8.37:0.00,8.09:0.00,0.28:0.00,0.95:0.00,0.62:0.00,0.91:52,27:4.3,32.2:0,0:0,0:105,139:45,11:30,5:-,chr1 g.16877597C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16877650 . A C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;NP=247 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,C:23:0:0:0:19,4:649,92:0.00,6.57:0.00,0.00:0.00,6.57:0.00,0.69:0.00,0.00:0.00,0.69:40,40:2.2,126.5:0,0:0,0:86,22:64,129:36,5:-,chr1 g.16877649A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16877686 . C T 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;NP=250;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:20:0:0:0:16,4:515,133:0.00,10.86:0.00,0.00:0.00,10.86:0.00,0.71:0.00,0.00:0.00,0.71:40,27:3.9,152.0:0,0:0,0:102,53:48,98:26,5:-,chr1 g.16877685C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16877709 rs201503244 C T 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=300;PC=0.231 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:16:0:0:0:12,4:371,136:0.00,11.61:0.00,0.00:0.00,11.61:0.00,0.75:0.00,0.00:0.00,0.75:40,27:5.2,152.0:0,0:0,0:102,76:48,75:23,5:-,chr1 g.16877708C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16877721 rs200364759 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=121;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:C,T:16:0:0:0:6,10:154,339:13.61,0.00:0.00,0.00:13.61,0.00:0.95,0.00:0.00,0.00:0.95,0.00:40,40:140.3,5.5:0,0:0,0:71,104:78,46:22,21:chr1 g.16877720T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16877753 rs201475858 A T 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=41;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,T:15:0:0:0:9,6:283,174:0.00,15.86:0.00,0.00:0.00,15.86:0.00,0.96:0.00,0.00:0.00,0.96:40,40:7.9,140.3:0,0:0,0:126,103:23,46:19,22:-,chr1 g.16877752A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16877833 rs200452314 T A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=113;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,T:6:0:0:0:4,2:127,59:12.95,0.00:0.00,0.00:12.95,0.00:0.93,0.00:0.00,0.00:0.93,0.00:40,40:99.0,0.0:0,0:0,0:99,72:51,77:22,13:chr1 g.16877832T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16879141 rs419872 A G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=848;PC=0.674 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,G:8:0:0:0:3,5:76,175:0.00,17.60:0.00,0.00:0.00,17.60:0.00,0.97:0.00,0.00:0.00,0.97:51,27:29.3,35.0:0,0:0,0:144,112:5,39:3,1:-,chr1 g.16879140A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16885304 rs56367133 AGTGT A 8 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2;PC=0.061;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:AGTGT,I,A:13:13:2:6:8,1,4:238,55,162:0.00,1.95,7.90:0.00,0.93,6.63:0.00,1.02,1.28:0.00,0.00,0.75:0.00,0.00,0.95:0.00,0.00,0.87:60,60,60:22.8,92.0,46.2:0,1,2:0,0,0:88,43,75:34,107,74:41,20,9:-,chr1 g.16885305_16885308delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16885401 rs1765544 G A 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:9:6:0:0:7,2:195,71:20.68,0.00:11.23,0.00:9.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,42:63.1,0.0:0,0:0,0:126,50:25,100:9,27:chr1 g.16885400G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16890176 rs3868814 A C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.*262T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,C:7:7:0:0:2,5:67,169:0.00,17.47:0.00,17.47:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,41:0.0,51.4:0,0:0,0:110,38:40,112:22,6:-,chr1 g.16890175A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16890283 rs156893 G T 79 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.01538,T/0.9846;NP=3458;PC=0.009;Gene=NBPF1/NM_017940.4/1;CC=c.*155C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:27:27:0:0:2,25:65,703:0.00,79.01:0.00,75.37:0.00,3.64:0.00,1.00:0.00,1.00:0.00,1.00:60,51:0.0,56.0:0,0:0,0:26,49:125,102:10,26:chr1 g.16890282G>T (intergenic),chr1 g.16890282G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16890320 rs3900707 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.*118A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,T:44:43:0:0:7,37:200,1181:15.00,0.00:15.23,0.00:-0.22,0.00:0.93,0.00:1.00,0.00:0.57,0.00:56,60:69.1,44.5:0,0:0,0:23,43:103,105:21,27:chr1 g.16890319T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16890331 rs3863777 C G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=1;NP=282;NP=983;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.*107G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:46:45:0:0:42,4:1239,134:0.00,9.42:0.00,6.63:0.00,2.78:0.00,0.57:0.00,0.94:0.00,0.47:60,56:46.1,66.8:0,0:0,0:38,64:98,86:20,26:-,chr1 g.16890330C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16890421 rs2990549 G A 115 nt VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.*17C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:84:0:0:38,61:1253,1812:114.79,0.00:75.92,0.00:38.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.9,15.0:0,0:0,0:53,48:96,97:25,23:NM_017940.3(NBPF1) c.*17C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16890428 rs3900708 T A 25 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.*10A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,T:102:87:0:0:11,91:350,2811:25.15,0.00:25.04,0.00:0.12,0.00:0.99,0.00:1.00,0.00:0.96,0.00:60,60:42.5,23.1:0,0:0,0:52,55:98,95:32,27:NM_017940.3(NBPF1) c.*10A>T,-:NOT_FOUND,-:0.11364,- 1 16890598 rs2990550 T A 599 nt VT=SNV;PN=G;NN=A;SST=Single;DP=337;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.3265A>T;ProtCh=p.T1089S;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:337:240:0:0:192,1,144:6077,13,4442:599.42,-0.12,0.00:365.12,-0.05,0.00:234.30,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,1,60:139.0,139.0,14.9:0,0,0:0,0,0:54,48,70:87,103,81:23,0,40:NM_017940.3(NBPF1) c.3485A>T (p.Tyr1162Phe),-:NOT_FOUND,-:NOT_FOUND,- 1 16890602 rs2990551 T G 145 nt VT=SNV;PN=A;NN=T;SST=Single;DP=340;DB;DBA=NA;PAF=NA;NP=2787;Gene=NBPF1/NM_017940.4/1;CC=c.3261A>C;ProtCh=p.Q1087H;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:340:240:0:0:54,286:1835,9262:144.68,0.00:106.00,0.00:38.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:154.9,74.3:0,0:0,0:77,62:69,83:33,29:NM_017940.3(NBPF1) c.3481A>C (p.Met1161Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 16890607 rs200783506 G A 161 nt VT=SNV;PN=C;NN=G;SST=Single;DP=377;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.3256C>T;ProtCh=p.R1086C;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:377:268:0:0:63,313,1:2043,9485,12:160.71,0.00,-0.35:120.91,0.00,-0.23:39.80,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,3:158.6,80.5,131.0:0,0,0:0,0,0:65,51,10:85,98,139:37,33,0:NM_017940.3(NBPF1) c.3476C>T (p.Pro1159Leu),-:NOT_FOUND,-:0.030846,- 1 16890639 rs1043750 C T 136 nt VT=SNV;PN=G;NN=A;SST=Single;DP=414;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.3224G>A;ProtCh=p.C1075Y;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:414:275:0:0:1,355,58:10,11954,1809:-0.29,0.00,135.90:-0.16,0.00,83.82:-0.13,0.00,52.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,59:44.0,104.6,107.3:0,0,0:0,0,0:21,62,60:130,89,90:0,34,36:-,NM_017940.3(NBPF1) c.3444G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 16890644 rs2992339 C T 706 nt VT=SNV;PN=A;NN=T;SST=Single;DP=411;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.3219G>A;ProtCh=p.K1073=;VC=Silent;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:411:271:0:0:1,182,1,227:8,6099,12,7201:-0.15,0.00,-0.12,706.12:-0.09,0.00,-0.09,334.76:-0.06,0.00,-0.04,371.36:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:18,60,19,58:78.0,41.9,249.0,161.2:0,0,0,0:0,0,0,0:62,58,16,57:77,91,135,94:0,32,0,31:-,NM_017940.3(NBPF1) c.3439G>A (p.Val1147Ile):-,NOT_FOUND:-,NOT_FOUND 1 16890671 rs2419526 T C 988 nt VT=SNV;PN=A;NN=G;SST=Single;DP=419;DB;DBA=NA;PAF=T/0.4539,C/0.5461;Gene=NBPF1/NM_017940.4/1;CC=c.3192A>G;ProtCh=p.A1064=;VC=Silent;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:419:238:0:0:1,293,125:9,9588,4006:-0.09,987.57,0.00:-0.05,406.09,0.00:-0.05,581.48,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:126.0,156.1,12.4:0,0,0:0,0,0:21,71,74:128,79,73:0,25,28:NM_017940.3(NBPF1) c.3412A>G (p.Met1138Val),-:NOT_FOUND,-:NOT_FOUND,- 1 16890672 rs2419525 G A 954 nt VT=SNV;PN=T;NN=C;SST=Single;DP=419;DB;DBA=NA;PAF=G/0.4539,A/0.5461;Gene=NBPF1/NM_017940.4/1;CC=c.3191C>T;ProtCh=p.A1064V;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:419:235:0:0:292,1,123,3:9241,9,4045,32:953.56,-0.09,0.00,-0.11:412.03,-0.04,0.00,-0.16:541.53,-0.05,0.00,0.04:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,12,60,56:154.4,162.0,11.7,108.0:0,0,0,0:0,0,0,0:77,65,77,90:73,86,72,49:28,0,29,24:NM_017940.3(NBPF1) c.3411C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 16890712 rs181000901 C T 445 nt VT=SNV;PN=G;NN=C;SST=Single;DP=387;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.3182-31G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:387:167:0:0:2,228,1,156:20,7040,8,4830:-0.38,0.00,-0.28,444.82:-0.08,0.00,-0.10,97.81:-0.30,0.00,-0.18,347.01:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,25,59:114.0,66.5,72.0,171.6:0,0,0,0:0,0,0,0:88,95,10,100:56,53,141,46:38,24,0,19:-,NM_017940.3(NBPF1) c.3402-31G>A:-,NOT_FOUND:-,0.043679 1 16890742 rs184697609 C G 361 nt VT=SNV;PN=A;NN=T;SST=Single;DP=338;DB;DBA=NA;PAF=C/0.9329,G/0.06709;NP=1;NP=1237;PC=0.078;Gene=NBPF1/NM_017940.4/1;CC=c.3182-61G>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:338:113:0:0:1,212,124,1:12,6635,3981,10:-0.22,0.00,361.18,-0.24:-0.06,0.00,78.68,-0.06:-0.16,0.00,282.50,-0.18:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,59,19:61.0,60.5,172.7,249.0:0,0,0,0:0,0,0,0:3,104,124,114:148,40,24,37:0,29,15,0:-,NM_017940.3(NBPF1) c.3402-61G>C:-,NOT_FOUND:-,NOT_FOUND 1 16890760 rs1759170 G A 554 nt VT=SNV;PN=C;NN=T;SST=Single;DP=265;DB;DBA=NA;PAF=G/0.9954,A/0.004593;Gene=NBPF1/NM_017940.4/1;CC=c.3182-79C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:265:56:0:0:172,1,90,2:5455,11,2704,23:554.26,-0.10,0.00,-0.07:81.38,-0.02,0.00,-0.04:472.88,-0.08,0.00,-0.03:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:126.3,162.0,28.6,107.0:0,0,0,0:0,0,0,0:112,73,105,87:37,78,40,62:24,0,30,11:NM_017940.3(NBPF1) c.3402-79C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16890787 rs55669804 ATAGATCCAT A 192 nt VT=DEL;SST=Single;DP=184;DB;DBA=NA;PAF=ATAGATCCAT/0.5493,A/0.4507;DB;DBA=NA;PAF=ATAGATCCAT/0.5493,A/0.4507;DB;DBA=NA;PAF=ATAGATCCAT/0.5493,A/0.4507;NP=930;PC=0.004;Gene=NBPF1/NM_017940.4/1;CC=c.3182-115_3182-107delATGGATCTA;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAGATCCAT,G,A:184:19:0:71:112,1,71:3312,10,2110:0.00,-0.19,191.90:0.00,-0.01,27.22:0.00,-0.18,164.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:79.7,95.0,47.4:0,0,0:0,0,0:131,48,82:12,103,69:10,0,24:-,NM_017940.3(NBPF1) c.3402-115_3402-107delATGGATCTA:-,NOT_FOUND:-,NOT_FOUND 1 16890814 rs56139324 TA T 156 idl,rn VT=DEL;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=17;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.3182-134delT;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:108:21:14:73:1,39,14,54:8,973,441,2127:-0.09,0.00,35.42,156.25:-0.02,0.00,5.11,19.06:-0.07,0.00,30.31,137.18:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:30.0,43.8,13.8,62.4:0,1,0,19:0,0,0,0:40,106,100,85:111,45,51,66:0,31,21,37:-,NM_017940.3(NBPF1) c.3402-134delT:-,NOT_FOUND:-,NOT_FOUND 1 16890823 rs376594000 A C 72 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=136;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.3182-142T>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:136:20:0:1:107,29:3400,890:0.00,72.25:0.00,21.10:0.00,51.15:0.00,1.00:0.00,0.98:0.00,1.00:60,52:38.5,56.6:5,25:0,0:100,33:50,113:32,20:-,NM_017940.3(NBPF1) c.3402-142T>G:-,NOT_FOUND:-,NOT_FOUND 1 16890852 rs1932256 A C 100 nt VT=SNV;PN=A;NN=A;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=1174;Gene=NBPF1/NM_017940.4/1;CC=c.3182-171T>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:147:26:0:0:102,43,2:3109,1175,22:0.00,99.71,-0.27:0.00,27.95,-0.09:0.00,71.76,-0.18:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,55,18:42.2,43.1,68.0:0,0,0:0,0,0:95,14,22:54,135,121:33,6,7:-,NM_017940.3(NBPF1) c.3402-171T>G:-,NOT_FOUND:-,NOT_FOUND 1 16890921 rs1759171 G A 139 nt VT=SNV;PN=A;NN=T;SST=Single;DP=157;DB;DBA=NA;PAF=G/0.6138,A/0.3862;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.3182-240C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:157:43:0:0:51,105,1:1579,3313,10:139.45,0.00,-0.21:45.76,0.00,-0.05:93.69,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,1:56.3,42.1,48.0:0,0,0:0,0,0:101,67,81:50,83,69:33,17,0:NM_017940.3(NBPF1) c.3402-240C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16891003 rs653454 C A 371 nt VT=SNV;PN=A;NN=A;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.3181+299G>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,C:120:47:0:0:108,12:3366,365:371.09,0.00:127.99,0.00:243.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.3,34.0:0,0:0,0:107,89:37,61:32,41:NM_017940.3(NBPF1) c.3401+299G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16891074 rs4111896 T C 322 nt VT=SNV;PN=A;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.3181+228A>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:127:104:0:0:1,99,27:10,3036,836:-0.01,322.18,0.00:0.00,244.46,0.00:-0.02,77.72,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,50,55:105.0,69.8,33.4:0,0,0:0,0,0:25,53,54:125,98,96:0,39,21:NM_017940.3(NBPF1) c.3401+228A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16891120 . AATG A 28 nt VT=DEL;SST=Single;DP=163;NP=212;PC=0.998;Gene=NBPF1/NM_017940.4/1;CC=c.3181+179_3181+181delCAT;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:AATG,A:163:150:0:15:148,15:4558,425:0.00,28.05:0.00,23.86:0.00,4.19:0.00,1.00:0.00,1.00:0.00,0.85:55,50:54.1,102.2:0,0:0,0:55,77:95,74:31,37:-,NM_017940.3(NBPF1) c.3401+179_3401+181delCAT:-,NOT_FOUND:-,NOT_FOUND 1 16891158 rs4112523 A C 335 nt VT=SNV;PN=T;NN=C;SST=Single;DP=212;DB;DBA=NA;PAF=NA;PC=0.178;Gene=NBPF1/NM_017940.4/1;CC=c.3181+144T>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:212:195:0:0:103,109:2969,3469:0.00,335.23:0.00,300.27:0.00,34.95:0.00,1.00:0.00,1.00:0.00,1.00:55,52:37.2,75.8:0,0:0,0:64,62:86,87:33,38:-,NM_017940.3(NBPF1) c.3401+144T>G:-,NOT_FOUND:-,NOT_FOUND 1 16891207 rs139085738 T C 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=314;DB;DBA=NA;PAF=NA;NP=2000;PC=0.008;Gene=NBPF1/NM_017940.4/1;CC=c.3181+95A>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:C,G,T:314:294:0:0:24,1,289:800,22,8783:54.81,0.01,0.00:48.76,0.04,0.00:6.05,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.87,0.00,0.00:50,31,55:94.7,146.0,50.7:0,0,0:0,0,0:33,70,50:116,80,101:27,0,34:NM_017940.3(NBPF1) c.3401+95A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16891243 rs2289553 C G 1527 nt VT=SNV;PN=T;NN=A;SST=Single;DP=432;DB;DBA=NA;PAF=NA;PC=0.009;Gene=NBPF1/NM_017940.4/1;CC=c.3181+59G>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:432:400:0:0:2,14,415,1:30,459,13564,8:0.37,0.00,1526.80,0.00:0.38,0.00,1374.22,0.00:-0.01,0.00,152.58,-0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:51,60,57,40:101.0,12.8,58.0,28.0:0,0,0,0:0,0,0,0:134,91,44,91:16,60,106,60:11,41,30,0:NM_017940.3(NBPF1) c.3401+59G>C,NM_017940.3(NBPF1) c.3401+59G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16891333 . C T 365 nt VT=SNV;PN=C;NN=T;SST=Single;DP=870;NP=2386;PC=0.037;Gene=NBPF1/NM_017940.4/1;CC=c.3150G>A;ProtCh=p.K1050=;VC=Silent;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:870:666:0:1:2,727,2,139:20,23807,13,4639:-0.59,0.00,-0.61,364.73:-0.33,0.00,-0.34,199.85:-0.26,0.00,-0.27,164.88:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:55,60,60,60:135.0,22.1,92.0,55.5:0,0,0,0:0,0,0,0:67,48,53,62:83,98,90,84:16,23,7,22:-,NM_017940.3(NBPF1) c.3370G>A (p.Gly1124Arg):-,NOT_FOUND:-,NOT_FOUND 1 16891485 rs2289551 C T 918 nt VT=SNV;PN=A;NN=C;SST=Single;DP=339;DB;DBA=NA;PAF=NA;NP=3229;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.3070-72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:339:53:0:0:65,274:2041,8602:0.00,918.46:0.00,144.63:0.00,773.83:0.00,1.00:0.00,1.00:0.00,1.00:60,57:17.2,39.4:0,0:0,0:95,94:48,56:27,38:-,NM_017940.3(NBPF1) c.3290-72G>A:-,NOT_FOUND:-,NOT_FOUND 1 16891685 rs77292329 T C 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=606;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.3070-272A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:96:28:0:0:2,21,73:19,618,2270:-0.33,50.18,0.00:-0.18,5.62,0.00:-0.15,44.55,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,56,56:88.5,38.0,23.7:0,0,0:0,0,0:56,103,90:94,47,53:16,16,42:NM_017940.3(NBPF1) c.3290-272A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16891705 . T C 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=83;NP=569;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.3070-292A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:83:25:0:0:24,59:724,1796:62.18,0.00:22.90,0.00:39.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,56:48.8,23.8:0,0:0,0:57,99:92,52:33,37:NM_017940.3(NBPF1) c.3290-292A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16891826 . A C 169 nt VT=SNV;PN=C;NN=A;SST=Single;DP=97;NP=386;PC=0.008;Gene=NBPF1/NM_017940.4/1;CC=c.3069+302T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:97:87:0:0:41,56:1338,1709:0.00,168.88:0.00,150.64:0.00,18.23:0.00,1.00:0.00,1.00:0.00,1.00:40,40:20.8,42.5:0,0:0,0:24,45:127,102:19,26:-,NM_017940.3(NBPF1) c.3289+302T>G:-,NOT_FOUND:-,NOT_FOUND 1 16891963 rs56078233 T A 227 nt VT=SNV;PN=C;NN=G;SST=Single;DP=360;DB;DBA=NA;PAF=NA;PC=0.009;Gene=NBPF1/NM_017940.4/1;CC=c.3069+165A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:360:339:0:0:85,275:2715,9113:226.66,0.00:211.15,0.00:15.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,60:43.1,12.7:0,0:0,0:52,58:97,92:28,34:NM_017940.3(NBPF1) c.3289+165A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16892310 rs61771015 T G 2224 nt VT=SNV;PN=G;NN=A;SST=Single;DP=943;DB;DBA=NA;PAF=NA;NP=192;Gene=NBPF1/NM_017940.4/1;CC=c.2893-6A>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:943:347:0:0:4,3,652,284:52,31,21616,8286:0.10,-0.26,2223.80,0.00:-0.33,-0.22,119.53,0.00:0.44,-0.04,2104.27,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:52,60,50,60:113.0,108.0,47.7,40.7:0,0,1,0:0,0,0,0:129,92,127,34:21,25,21,104:13,40,6,11:NM_017940.3(NBPF1) c.2839-8A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16892338 . G A 300 sb;end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=487;NP=2;Gene=NBPF1/NM_017940.4/1;CC=c.2893-34C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:487:277:0:0:123,2,362:3609,38,11525:300.38,0.27,0.00:-25.94,-0.38,0.00:326.32,0.65,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:49,31,60:74.4,69.5,40.8:0,0,1:0,0,0:147,142,52:4,6,94:2,4,20:NM_017940.3(NBPF1) c.2839-36C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16892407 rs74535844 A G 147 nt VT=SNV;PN=G;NN=C;SST=Single;DP=694;DB;DBA=NA;PAF=NA;NP=3044;Gene=NBPF1/NM_017940.4/1;CC=c.2893-103T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:694:287:0:0:625,3,66:18721,31,2101:0.00,-0.94,147.40:0.00,-0.30,39.78:0.00,-0.64,107.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,22,60:37.6,105.3,46.5:0,0,0:0,0,0:52,100,48:98,51,103:39,29,40:-,NM_017940.3(NBPF1) c.2839-105T>C:-,NOT_FOUND:-,NOT_FOUND 1 16892419 rs61771016 A G 1843 nt VT=SNV;PN=A;NN=T;SST=Single;DP=724;DB;DBA=NA;PAF=NA;NP=2448;Gene=NBPF1/NM_017940.4/1;CC=c.2893-115T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:724:208:0:0:173,550,1:5402,17547,12:0.00,1843.15,-0.06:0.00,394.41,-0.01:0.00,1448.73,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,11:26.7,46.8,215.0:0,0,0:0,0,0:48,45,7:103,106,144:31,28,0:-,NM_017940.3(NBPF1) c.2839-117T>C:-,NOT_FOUND:-,NOT_FOUND 1 16892545 . C T 139 nt VT=SNV;PN=G;NN=C;SST=Single;DP=528;NP=361;Gene=NBPF1/NM_017940.4/1;CC=c.2893-241G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:528:106:0:0:1,465,1,61:12,14193,11,1915:-0.37,0.00,-0.38,138.88:-0.07,0.00,-0.04,15.11:-0.30,0.00,-0.33,123.77:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:15,60,59,60:58.0,42.7,85.0,72.3:0,0,0,0:0,0,0,0:98,104,123,87:52,43,27,64:0,32,0,28:-,NM_017940.3(NBPF1) c.2839-243G>A:-,NOT_FOUND:-,NOT_FOUND 1 16892561 rs649559 C T 1482 nt VT=SNV;PN=A;NN=G;SST=Single;DP=411;DB;DBA=NA;PAF=NA;NP=3423;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.2893-257G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:411:107:0:0:1,2,408:11,10,12911:0.03,0.00,1481.79:0.00,0.00,307.61:0.03,0.00,1174.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:18,30,60:74.0,14.0,48.7:0,0,0:0,0,0:77,83,96:74,68,55:0,5,24:NM_017940.3(NBPF1) c.2839-259G>A,NM_017940.3(NBPF1) c.2839-259G>A:NOT_FOUND,NOT_FOUND:0.998017,0.998017 1 16892578 rs533367874 ACT A 57 nt VT=DEL;SST=Single;DP=377;DB;DBA=NA;PAF=NA;NP=1102;PC=0.008;Gene=NBPF1/NM_017940.4/1;CC=c.2893-276_2893-275delAG;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:ACT,C,G,A:377:112:0:40:334,1,2,40:9885,12,22,920:0.00,-0.38,-0.59,56.63:0.00,-0.11,-0.19,20.08:0.00,-0.27,-0.40,36.55:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,16,20,60:42.1,112.0,64.5,46.8:0,0,0,0:0,0,0,0:103,106,57,100:47,45,94,49:26,0,44,34:-,NM_017940.3(NBPF1) c.2839-278_2839-277delAG:-,NOT_FOUND:-,0.335268 1 16892801 rs76571377 C T 128 nt VT=SNV;PN=A;NN=C;SST=Single;DP=745;DB;DBA=NA;PAF=NA;NP=1230;Gene=NBPF1/NM_017940.4/1;CC=c.2892+101G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C,T:745:687:0:0:2,683,60:36,21752,1897:-0.26,0.00,128.14:-0.19,0.00,118.03:-0.08,0.00,10.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,56:106.5,29.8,75.6:0,0,0:0,0,0:63,58,53:88,91,94:39,35,27:-,NM_017940.3(NBPF1) c.2839-499G>A:-,NOT_FOUND:-,0.000969 1 16892811 rs61771017 A G 1964 nt VT=SNV;PN=A;NN=A;SST=Single;DP=810;DB;DBA=NA;PAF=NA;NP=2632;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2892+91T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:810:749:0:0:231,3,575,1:7343,46,19000,11:0.00,0.38,1964.08,-0.09:0.00,0.38,1693.79,-0.07:0.00,-0.00,270.29,-0.01:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,49,60,47:10.5,114.0,43.9,81.0:0,0,0,0:0,0,0,0:53,95,53,62:94,52,97,89:35,49,32,0:-,NM_017940.3(NBPF1) c.2839-509T>C:-,NOT_FOUND:-,0.227405 1 16893033 rs3983170 G A 1996 nt VT=SNV;PN=C;NN=C;SST=Single;DP=635;DB;DBA=NA;PAF=NA;NP=3147;Gene=NBPF1/NM_017940.4/1;CC=c.2840-79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A,C,G,T:635:221:0:0:584,4,44,3:17879,43,1444,32:1995.71,0.26,0.00,0.09:597.84,0.03,0.00,-0.02:1397.87,0.24,0.00,0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,40,60,40:43.1,87.5,13.3,128.7:0,0,0,0:0,0,0,0:81,124,106,137:68,25,43,14:37,13,30,2:NM_017940.3(NBPF1) c.2838+642C>T,NM_017940.3(NBPF1) c.2838+642C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16893071 rs3868031 T G 160 nt VT=SNV;PN=C;NN=G;SST=Single;DP=586;DB;DBA=NA;PAF=T/0.8001,G/0.1999;NP=2019;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2840-117A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:586:92:0:0:1,73,512:9,2205,16662:-0.43,160.18,0.00:-0.05,14.73,0.00:-0.38,145.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,60,60:132.0,73.0,32.6:0,0,0:0,0,0:148,68,85:3,81,65:0,27,29:NM_017940.3(NBPF1) c.2838+604A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16893247 . C T 103 nt VT=SNV;PN=G;NN=C;SST=Single;DP=178;NP=414;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2840-293G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:178:27:0:0:137,41:4076,1247:0.00,102.63:0.00,11.06:0.00,91.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.9,46.2:0,0:0,0:100,88:51,63:32,38:-,NM_017940.3(NBPF1) c.2838+428G>A:-,NOT_FOUND:-,NOT_FOUND 1 16893335 rs663405 T C 279 nt VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.4026,C/0.5974;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.2839+339A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:102:66:0:0:87,15:2567,425:279.50,0.00:174.51,0.00:104.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,60:60.6,42.7:0,0:0,0:75,64:76,77:36,46:NM_017940.3(NBPF1) c.2838+340A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16893336 rs11485887 G A 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.9251,A/0.07488;NP=329;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.2839+338C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,G,T:102:68:0:0:9,91,2:254,2776,19:16.74,0.00,-0.46:11.11,0.00,-0.30:5.63,0.00,-0.15:0.96,0.00,0.00:0.99,0.00,0.00:0.90,0.00,0.00:51,60,51:94.0,54.0,124.0:0,0,0:0,0,0:102,72,90:46,79,60:40,40,2:NM_017940.3(NBPF1) c.2838+339C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16893441 rs607117 G A 734 nt VT=SNV;PN=T;NN=G;SST=Single;DP=244;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2839+233C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:244:228:0:0:220,24:6638,689:734.19,0.00:661.94,0.00:72.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:47.1,41.5:0,0:0,0:41,38:109,113:27,20:NM_017940.3(NBPF1) c.2838+234C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16893854 rs199997808 A C 2099 nt VT=SNV;PN=C;NN=G;SST=Single;DP=2631;DB;DBA=NA;PAF=NA;NP=2168;Gene=NBPF1/NM_017940.4/1;CC=c.2667-8T>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:2631:1228:0:0:1815,813,1,2:60951,24181,33,21:0.00,2098.96,0.00,-0.76:0.00,555.46,0.00,-0.22:0.00,1543.50,0.00,-0.55:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,55,43,52:21.1,68.7,83.0,54.5:0,0,0,0:0,0,0,0:85,95,63,81:59,52,87,67:27,26,0,22:-,NM_017940.3(NBPF1) c.2667-8T>G:-,NOT_FOUND:-,0.021592 1 16893884 rs61771021 G A 3937 nt VT=SNV;PN=G;NN=A;SST=Single;DP=2195;DB;DBA=NA;PAF=NA;NP=3422;Gene=NBPF1/NM_017940.4/1;CC=c.2667-38C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:2195:768:0:0:1256,8,929,2:39855,90,29752,16:3936.83,-0.98,0.00,-0.39:700.94,-0.30,0.00,-0.10:3235.89,-0.68,0.00,-0.29:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:53,51,60,51:68.5,95.0,15.0,43.0:0,0,0,0:0,0,0,0:105,112,100,134:43,39,48,16:24,23,27,9:NM_017940.3(NBPF1) c.2667-38C>T,-:NOT_FOUND,-:0.371537,- 1 16893984 rs370875504 C T 506 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=465;DB;DBA=NA;PAF=NA;NP=864;Gene=NBPF1/NM_017940.4/1;CC=c.2667-138G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:465:19:0:0:1,286,178:12,8195,5554:-0.21,0.00,506.39:-0.01,0.00,-1.87:-0.20,0.00,508.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,45:118.0,42.4,123.9:0,0,0:0,0,0:7,119,135:144,31,13:0,21,9:-,NM_017940.3(NBPF1) c.2667-138G>A:-,NOT_FOUND:-,NOT_FOUND 1 16893991 rs688049 A G 1094 nt VT=SNV;PN=T;NN=T;SST=Single;DP=375;DB;DBA=NA;PAF=NA;NP=3147;Gene=NBPF1/NM_017940.4/1;CC=c.2667-145T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:375:19:0:0:52,323:1611,10063:0.00,1094.05:0.00,46.56:0.00,1047.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.0,82.5:0,0:0,0:106,131:45,19:31,13:-,NM_017940.3(NBPF1) c.2667-145T>C:-,NOT_FOUND:-,NOT_FOUND 1 16894002 rs548480884 C A 122 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=257;DB;DBA=NA;PAF=C/0.5895,A/0.4105;NP=15;Gene=NBPF1/NM_017940.4/1;CC=c.2667-156G>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:257:17:0:0:52,203,1,1:1529,6162,7,10:121.79,0.00,-0.33,-0.31:-1.47,0.00,-0.03,-0.03:123.26,0.00,-0.31,-0.28:1.00,0.00,0.00,0.00:0.95,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,60,44,43:170.0,42.3,74.0,87.0:0,0,0,0:0,0,0,0:138,116,26,122:13,35,109,29:6,27,0,0:NM_017940.3(NBPF1) c.2667-156G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16894003 rs568183423 T C 118 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=249;DB;DBA=NA;PAF=T/0.5895,C/0.4105;NP=17;Gene=NBPF1/NM_017940.4/1;CC=c.2667-157A>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:249:16:0:0:6,45,1,197:54,1467,13,5348:-1.04,117.89,-0.25,0.00:-0.15,-1.26,-0.03,0.00:-0.88,119.15,-0.23,0.00:0.00,1.00,0.00,0.00:0.00,0.92,0.00,0.00:0.00,1.00,0.00,0.00:60,40,53,60:80.3,176.7,142.0,41.6:0,0,0,0:0,0,0,0:40,138,31,117:111,12,119,34:20,5,0,27:NM_017940.3(NBPF1) c.2667-157A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16894024 rs150275217 GA G 23 nt VT=DEL;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=159;Gene=NBPF1/NM_017940.4/1;CC=c.2667-179delT;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,GA,G:153:13:0:14:6,134,13:56,3927,354:-0.68,0.00,22.62:-0.16,0.00,4.83:-0.51,0.00,17.79:0.00,0.00,0.99:0.00,0.00,0.59:0.00,0.00,1.00:60,60,60:111.3,53.4,39.9:0,1,0:0,0,0:81,106,101:69,37,50:19,37,33:-,NM_017940.3(NBPF1) c.2667-179delT:-,NOT_FOUND:-,NOT_FOUND 1 16894034 . GACACACACAC G 40 idl,nt VT=DEL;SST=Single;DP=121;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2667-198_2667-189delGTGTGTGTGT;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GACACACACAC,I,G:104:13:1:35:1,86,1,16:35,2475,31,1024:1.59,0.00,1.20,39.51:-0.01,0.00,-0.01,0.90:1.60,0.00,1.21,38.60:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.77:0.00,0.00,0.00,1.00:40,60,50,60:118.0,53.9,33.0,65.1:1,1,0,17:0,0,0,0:59,108,40,67:92,37,95,84:0,30,0,18:-,NM_017940.3(NBPF1) c.2667-198_2667-189delGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 16894080 rs35523431 CAG C 39 idl,nt VT=DEL;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=39;Gene=NBPF1/NM_017940.4/1;CC=c.2667-236_2667-235delCT;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAG,C:90:16:0:23:74,16:2480,499:0.00,39.25:0.00,3.74:0.00,35.51:0.00,1.00:0.00,0.91:0.00,1.00:60,60:45.0,61.2:0,0:0,0:80,114:55,34:30,15:-,NM_017940.3(NBPF1) c.2667-236_2667-235delCT:-,NOT_FOUND:-,NOT_FOUND 1 16894082 rs4661808 G C 39 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=372;Gene=NBPF1/NM_017940.4/1;CC=c.2667-236C>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:74:14:0:23:1,15,58:11,477,1913:-0.19,38.78,0.00:-0.05,3.19,0.00:-0.14,35.58,0.00:0.00,1.00,0.00:0.00,0.92,0.00:0.00,1.00,0.00:60,60,60:150.0,75.5,35.8:0,2,0:0,0,0:13,79,92:138,47,51:0,31,29:NM_017940.3(NBPF1) c.2667-236C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16894169 rs59757695 C A 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=145;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2666+305G>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:45:7:0:0:9,35,1:289,1186,13:23.51,0.00,0.01:2.89,0.00,0.32:20.63,0.00,-0.31:0.99,0.00,0.00:0.75,0.00,0.00:1.00,0.00,0.00:60,60,57:37.7,26.2,126.0:0,0,0:0,0,0:101,100,137:49,51,10:23,35,0:NM_017940.3(NBPF1) c.2666+305G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16894277 rs4661809 G T 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=770;Gene=NBPF1/NM_017940.4/1;CC=c.2666+197C>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:35:0:0:24,18:708,564:0.00,52.56:0.00,39.95:0.00,12.61:0.00,1.00:0.00,1.00:0.00,0.69:60,57:47.8,63.4:0,0:0,0:62,61:88,89:40,34:-,NM_017940.3(NBPF1) c.2666+197C>A:-,NOT_FOUND:-,NOT_FOUND 1 16894323 rs55870077 C A 92 nt VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.009;Gene=NBPF1/NM_017940.4/1;CC=c.2666+151G>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:78:75:0:0:31,47:1001,1449:92.17,0.00:85.64,0.00:6.52,0.00:1.00,0.00:1.00,0.00:0.87,0.00:57,60:53.4,28.4:0,0:0,0:41,40:110,107:30,20:NM_017940.3(NBPF1) c.2666+151G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16894493 rs3932639 G C 71 nt VT=SNV;PN=T;NN=G;SST=Single;DP=268;DB;DBA=NA;PAF=NA;PC=0.007;Gene=NBPF1/NM_017940.4/1;CC=c.2647C>G;ProtCh=p.Q883E;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:268:188:0:0:2,32,233,1:22,980,7594,20:-0.52,71.06,0.00,-0.07:-0.32,51.32,0.00,0.11:-0.20,19.74,0.00,-0.18:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,50,60,40:135.5,52.9,12.2,33.0:0,0,0,0:0,0,0,0:40,73,82,62:111,78,69,87:15,40,35,0:NM_017940.3(NBPF1) c.2647C>G (p.Gln883Glu),-:NOT_FOUND,-:0.027905,- 1 16894612 rs3868821 T G 78 nt VT=SNV;PN=G;NN=A;SST=Single;DP=148;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2615-87A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:148:39:0:0:1,30,117:21,956,3645:0.20,77.65,0.00:-0.06,13.25,0.00:0.27,64.40,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,52:55.0,55.0,19.0:0,0,0:0,0,0:18,123,113:133,25,37:0,17,22:NM_017940.3(NBPF1) c.2615-87A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16894664 rs860282 C T 287 nt VT=SNV;PN=G;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=3198;Gene=NBPF1/NM_017940.4/1;CC=c.2615-139G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:82:0:0:0:82:2484:287.27:0.00:287.27:1.00:0.00:1.00:52:41.1:0:0:79:71:37:NM_017940.3(NBPF1) c.2615-139G>A,NM_017940.3(NBPF1) c.2615-139G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16894799 rs28525225 C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1054;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.2615-274G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C,T:32:0:0:0:1,27,4:10,752,101:-0.11,0.00,6.90:0.00,0.00,0.00:-0.11,0.00,6.90:0.00,0.00,0.63:0.00,0.00,0.00:0.00,0.00,0.63:57,60,56:71.0,33.3,72.0:0,0,0:0,0,0:118,99,124:-12,52,25:0,28,13:-,NM_017940.3(NBPF1) c.2615-274G>A:-,NOT_FOUND:-,NOT_FOUND 1 16895392 rs573290309 AC A 10 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2075;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2614+175delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:AC,A:26:26:0:4:22,4:704,132:0.00,10.26:0.00,10.26:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:50,51:14.9,2.5:0,0:0,0:59,37:90,113:25,24:-,NM_017940.3(NBPF1) c.2614+175delG:-,NOT_FOUND:-,NOT_FOUND 1 16895634 rs61771025 T G 447 nt VT=SNV;PN=T;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=3460;Gene=NBPF1/NM_017940.4/1;CC=c.2548A>C;ProtCh=p.K850Q;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:G,T:127:78:0:0:122,5:3985,158:447.34,0.00:193.00,0.00:254.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,51:41.0,55.8:0,0:0,0:91,14:58,136:23,0:NM_017940.3(NBPF1) c.=,NM_017940.3(NBPF1) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16895800 rs370120404 A G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=1652;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2451-69T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:45:9:0:0:39,6:1319,193:0.00,14.49:0.00,-0.37:0.00,14.86:0.00,0.86:0.00,0.67:0.00,0.99:40,40:18.4,32.2:0,0:0,0:85,121:66,29:25,13:-,NM_017940.3(NBPF1) c.2451-69T>C:-,NOT_FOUND:-,NOT_FOUND 1 16899449 . A G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;NP=9;Gene=NBPF1/NM_017940.4/1;CC=c.2450+188T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:8:8:0:0:5,3:151,84:0.00,7.52:0.00,7.52:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:40,22:5.2,39.7:0,0:0,0:71,97:78,53:34,1:-,NM_017940.3(NBPF1) c.2450+188T>C:-,NOT_FOUND:-,NOT_FOUND 1 16899669 rs373211172 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=231;PC=0.008;Gene=NBPF1/NM_017940.4/1;CC=c.2418G>A;ProtCh=p.E806=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:C,T:18:8:0:0:13,5:440,161:0.00,13.87:0.00,9.46:0.00,4.41:0.00,0.87:0.00,0.90:0.00,0.94:40,40:7.4,57.8:0,0:0,0:51,70:100,81:12,40:-,NM_017940.3(NBPF1) c.2418G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 16899953 rs4661819 C T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=316;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.2399-265G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:A,C,T:12:0:0:0:1,6,5:9,188,147:0.20,0.00,13.77:0.00,0.00,0.00:0.20,0.00,13.77:0.00,0.00,0.92:0.00,0.00,0.00:0.00,0.00,0.92:55,60,60:72.0,7.3,56.8:0,0,0:0,0,0:94,89,96:57,57,54:0,22,33:-,NM_017940.3(NBPF1) c.2399-265G>A:-,NOT_FOUND:-,NOT_FOUND 1 16900718 rs372224553 G C 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=229;Gene=NBPF1/NM_017940.4/1;CC=c.2398+264C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,G:25:25:0:0:5,20:176,568:14.57,0.00:14.57,0.00:0.00,0.00:0.83,0.00:0.83,0.00:0.00,0.00:42,43:75.8,10.4:0,0:0,0:35,50:116,100:12,32:NM_017940.3(NBPF1) c.2398+264C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16900724 rs3981759 C G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=561;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.2398+258G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,G:28:28:0:0:23,5:725,170:0.00,13.68:0.00,13.68:0.00,0.00:0.00,0.81:0.00,0.81:0.00,0.00:43,42:9.6,75.8:0,0:0,0:47,41:104,110:35,12:-,NM_017940.3(NBPF1) c.2398+258G>C:-,NOT_FOUND:-,NOT_FOUND 1 16900883 rs688635 T G 86 nt VT=SNV;PN=G;NN=T;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=2477;Gene=NBPF1/NM_017940.4/1;CC=c.2398+99A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:167:164:0:0:1,1,35,130:14,12,1066,3662:-0.18,-0.24,86.36,0.00:-0.17,-0.23,84.52,0.00:-0.01,-0.01,1.84,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.73,0.00:7,50,52,50:101.0,12.0,40.5,13.6:0,0,0,0:0,0,0,0:146,137,48,50:5,14,103,101:0,0,40,31:NM_017940.3(NBPF1) c.2398+99A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16901247 rs10752419 G T 306 nt VT=SNV;PN=A;NN=G;SST=Single;DP=240;DB;DBA=NA;PAF=NA;NP=2475;Gene=NBPF1/NM_017940.4/1;CC=c.2193-60C>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:240:53:0:0:1,138,101:6,4387,3281:-0.23,0.00,305.56:-0.04,0.00,30.33:-0.19,0.00,275.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:41,55,50:63.0,11.5,68.1:0,0,0:0,0,0:11,115,120:140,34,29:0,25,16:-,NM_017940.3(NBPF1) c.2193-60C>A:-,NOT_FOUND:-,NOT_FOUND 1 16901259 rs10907243 T A 218 nt VT=SNV;PN=C;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=NA;NP=782;PC=0.361;Gene=NBPF1/NM_017940.4/1;CC=c.2193-72A>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:200:34:0:0:72,2,126:2402,28,4161:218.17,-0.06,0.00:24.56,-0.06,0.00:193.61,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,40,56:77.6,92.5,14.6:0,0,1:0,0,0:129,143,98:21,7,50:13,4,37:NM_017940.3(NBPF1) c.2193-72A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16901315 rs10752420 T A 23 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=30;Gene=NBPF1/NM_017940.4/1;CC=c.2193-128A>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,T:77:2:0:0:10,67:311,2101:22.97,0.00:-0.09,0.00:23.06,0.00:0.98,0.00:0.37,0.00:1.00,0.00:28,60:110.4,10.2:0,0:0,0:143,104:7,47:2,29:NM_017940.3(NBPF1) c.2193-128A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16901321 rs10752421 G A 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=36;Gene=NBPF1/NM_017940.4/1;CC=c.2193-134C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,G:75:2:0:0:9,66:284,1972:20.76,0.00:-0.08,0.00:20.84,0.00:0.97,0.00:0.36,0.00:1.00,0.00:40,60:104.2,9.2:0,0:0,0:114,95:37,56:36,29:NM_017940.3(NBPF1) c.2193-134C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16901407 rs10796416 G C 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.2193-220C>G;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:52:11:0:0:19,33:592,1091:53.41,0.00:8.54,0.00:44.87,0.00:1.00,0.00:0.98,0.00:1.00,0.00:42,60:49.9,4.2:0,0:0,0:54,87:97,64:20,29:NM_017940.3(NBPF1) c.2193-220C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16901539 . G T 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;NP=854;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.2192+113C>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:43:37:0:0:31,12:1037,376:0.00,32.27:0.00,23.84:0.00,8.43:0.00,1.00:0.00,1.00:0.00,0.90:60,40:23.8,76.2:0,0:0,0:66,84:84,67:36,38:-,NM_017940.3(NBPF1) c.2192+113C>A:-,NOT_FOUND:-,NOT_FOUND 1 16901549 rs10907244 A G 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=2196;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2192+103T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:37:0:0:23,19:733,558:0.00,52.25:0.00,45.02:0.00,7.24:0.00,1.00:0.00,1.00:0.00,0.98:60,46:9.7,77.2:0,0:0,0:70,79:81,72:41,29:-,NM_017940.3(NBPF1) c.2192+103T>C:-,NOT_FOUND:-,NOT_FOUND 1 16901554 rs11485889 C T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=1857;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2192+98G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,T:44:39:0:0:36,8:1174,233:0.00,18.07:0.00,17.25:0.00,0.81:0.00,0.97:0.00,1.00:0.00,0.84:60,46:31.1,77.5:0,0:0,0:78,71:72,79:41,29:-,NM_017940.3(NBPF1) c.2192+98G>A:-,NOT_FOUND:-,NOT_FOUND 1 16901627 rs3872316 C A 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=3228;Gene=NBPF1/NM_017940.4/1;CC=c.2192+25G>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:81:68:0:0:26,55:853,1860:75.63,0.00:56.86,0.00:18.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:88.8,29.0:0,0:0,0:61,32:89,117:14,23:NM_017940.3(NBPF1) c.2192+25G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16901668 rs3901679 T C 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.2176A>G;ProtCh=p.K726E;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:62:0:0:18,70:571,2294:46.35,0.00:19.85,0.00:26.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.0,45.5:0,0:0,0:60,70:89,78:15,28:NM_017940.3(NBPF1) c.2176A>G (p.Lys726Glu),-:NOT_FOUND,-:0.296751,- 1 16901710 rs3901680 C G 82 nt VT=SNV;PN=T;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=2729;PC=0.106;Gene=NBPF1/NM_017940.4/1;CC=c.2134G>C;ProtCh=p.D712H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:82:50:0:0:54,27,1:1893,917,8:0.00,82.19,-0.21:0.00,39.55,-0.05:0.00,42.63,-0.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:56,40,10:29.9,100.1,159.0:0,0,0:0,0,0:93,112,94:56,38,48:14,33,0:-,NM_017940.3(NBPF1) c.=:-,NOT_FOUND:-,NOT_FOUND 1 16901714 rs61772335 G A 190 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=3354;PC=0.042;Gene=NBPF1/NM_017940.4/1;CC=c.2130C>T;ProtCh=p.N710=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:49:0:0:58,23:1830,751:189.52,0.00:82.72,0.00:106.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,55:75.4,3.4:0,0:0,0:99,87:48,62:32,23:NM_017940.3(NBPF1) c.=,-:NOT_FOUND,-:NOT_FOUND,- 1 16901757 rs3872317 C A 60 nt VT=SNV;PN=T;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=2238;PC=0.253;Gene=NBPF1/NM_017940.4/1;CC=c.2120-33G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:62:21:0:0:22,40:674,1293:60.36,0.00:10.84,0.00:49.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:86.1,31.8:0,0:0,0:94,131:56,17:22,12:NM_017940.3(NBPF1) c.2120-33G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16902014 rs2019909 G T 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=269;Gene=NBPF1/NM_017940.4/1;CC=c.2120-290C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:G,T:8:1:0:0:2,6:53,173:0.00,18.17:0.00,3.95:0.00,14.22:0.00,1.00:0.00,0.83:0.00,1.00:40,23:12.5,52.2:0,0:0,0:96,82:53,69:4,28:-,NM_017940.3(NBPF1) c.2120-290C>A:-,NOT_FOUND:-,NOT_FOUND 1 16902516 rs2985117 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.234,C/0.766;Gene=NBPF1/NM_017940.4/1;CC=c.2119+246A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:24:105.8:0:0:57:91:11:NM_017940.3(NBPF1) c.2119+246A>G,NM_017940.3(NBPF1) c.2119+246A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16902542 rs2985116 A C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2208,C/0.7792;Gene=NBPF1/NM_017940.4/1;CC=c.2119+220T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:114:13.29:13.29:0.00:1.00:1.00:0.00:23:103.0:0:0:72:79:11:NM_017940.3(NBPF1) c.2119+220T>G,NM_017940.3(NBPF1) c.2119+220T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16902568 rs12405359 A C 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5487,C/0.4513;NP=1235;Gene=NBPF1/NM_017940.4/1;CC=c.2119+194T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,C:16:16:0:0:6,10:191,338:0.00,33.97:0.00,33.97:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:50,32:38.3,85.2:0,0:0,0:13,19:136,130:4,14:-,NM_017940.3(NBPF1) c.2119+194T>G:-,NOT_FOUND:-,NOT_FOUND 1 16902661 rs2985115 C A 197 nt VT=SNV;PN=G;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.3347,A/0.6653;NP=2835;Gene=NBPF1/NM_017940.4/1;CC=c.2119+101G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:52:0:0:52:1725:197.30:193.52:3.78:1.00:1.00:1.00:50:62.4:0:0:48:102:31:NM_017940.3(NBPF1) c.2119+101G>T,NM_017940.3(NBPF1) c.2119+101G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16902712 . T C 21 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=114;NP=891;PC=0.188;Gene=NBPF1/NM_017940.4/1;CC=c.2119+50A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:C,T:114:108:0:0:10,104:314,3123:21.49,0.00:22.35,0.00:-0.86,0.00:0.97,0.00:1.00,0.00:0.90,0.00:40,51:47.4,54.0:0,0:0,0:8,30:142,118:4,21:NM_017940.3(NBPF1) c.2119+50A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16902727 rs61772338 G C 154 nt VT=SNV;PN=G;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=NA;PC=0.028;Gene=NBPF1/NM_017940.4/1;CC=c.2119+35C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:152:144:0:0:1,53,98:10,1709,3148:-0.23,153.63,0.00:-0.17,120.93,0.00:-0.05,32.70,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:1,51,50:123.0,102.9,26.7:0,0,0:0,0,0:24,41,28:126,108,117:0,25,19:NM_017940.3(NBPF1) c.2119+35C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16902750 rs375334074 T C 194 nt VT=SNV;PN=A;NN=G;SST=Single;DP=211;DB;DBA=NA;PAF=NA;NP=2259;PC=0.756;Gene=NBPF1/NM_017940.4/1;CC=c.2119+12A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:211:194:0:0:67,144:2192,4751:193.89,0.00:139.92,0.00:53.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,51:96.7,27.1:0,0:0,0:42,33:102,116:24,17:NM_017940.3(NBPF1) c.2119+12A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16902804 rs77427788 C A 236 nt VT=SNV;PN=C;NN=C;SST=Single;DP=287;DB;DBA=NA;PAF=NA;PC=0.181;Gene=NBPF1/NM_017940.4/1;CC=c.2077G>T;ProtCh=p.G693W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:287:245:0:0:83,204:2714,6495:236.06,0.00:149.95,0.00:86.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,54:88.1,33.9:0,0:0,0:80,67:65,79:27,24:NM_017940.3(NBPF1) c.2077G>T (p.Gly693Trp),-:NOT_FOUND,-:NOT_FOUND,- 1 16902823 rs80271292 G C 86 nt VT=SNV;PN=G;NN=A;SST=Single;DP=295;DB;DBA=NA;PAF=NA;NP=3322;PC=0.284;Gene=NBPF1/NM_017940.4/1;CC=c.2058C>G;ProtCh=p.L686=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:295:245:0:0:33,260,2:1152,8469,20:86.18,0.00,-0.64:71.50,0.00,-0.39:14.69,0.00,-0.25:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:53,59,40:81.7,43.7,71.5:0,0,0:0,0,0:77,76,76:70,68,75:27,29,64:NM_017940.3(NBPF1) c.2058C>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 16902884 rs74630591 T C 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=258;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1997A>G;ProtCh=p.N666S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:258:160:0:0:28,230:951,7373:70.06,0.00:23.98,0.00:46.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,60:72.6,51.0:0,0:0,0:75,75:76,75:35,35:NM_017940.3(NBPF1) c.1997A>G (p.Asn666Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 16902894 rs28453011 A G 843 nt VT=SNV;PN=C;NN=G;SST=Single;DP=245;DB;DBA=NA;PAF=A/0.3185,C/.,G/0.6815,T/.;NP=3290;Gene=NBPF1/NM_017940.4/1;CC=c.1987T>C;ProtCh=p.C663R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:245:143:0:0:2,2,239,2:47,15,7353,23:0.00,0.08,843.40,0.24:0.00,-0.00,372.50,-0.00:0.00,0.08,470.90,0.24:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:41,40,59,43:23.0,11.0,55.7,111.5:0,0,0,0:0,0,0,0:29,45,69,40:113,105,82,104:1,24,26,36:NM_017940.3(NBPF1) c.=,NM_017940.3(NBPF1) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16902943 rs3896429 T C 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=243;DB;DBA=NA;PAF=NA;NP=3107;PC=0.011;Gene=NBPF1/NM_017940.4/1;CC=c.1938A>G;ProtCh=p.R646=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:243:102:0:0:54,189:1641,6250:134.01,0.00:56.03,0.00:77.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,49:76.3,39.2:0,0:0,0:91,100:56,50:28,27:NM_017940.3(NBPF1) c.=,-:NOT_FOUND,-:NOT_FOUND,- 1 16902982 rs3896430 G T 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=184;DB;DBA=NA;PAF=NA;NP=1394;PC=0.609;Gene=NBPF1/NM_017940.4/1;CC=c.1905-6C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:G,T:184:78:0:0:166,18:5249,574:0.00,40.44:0.00,12.75:0.00,27.68:0.00,1.00:0.00,1.00:0.00,1.00:55,54:30.2,85.0:0,0:0,0:85,124:58,25:32,23:-,NM_017940.3(NBPF1) c.1905-6C>A:-,NOT_FOUND:-,NOT_FOUND 1 16903001 rs201860544 T C 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=NA;NP=1018;Gene=NBPF1/NM_017940.4/1;CC=c.1905-25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:141:63:0:0:18,123:593,3922:44.57,0.00:11.31,0.00:33.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,55:39.6,29.7:0,0:0,0:80,94:69,50:37,22:NM_017940.3(NBPF1) c.1905-25A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16903150 rs61772340 T C 126 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.04633,C/0.9537;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1905-174A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C,T:40:0:0:0:38,2:1108,20:125.69,0.00:0.00,0.00:125.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:54,56:60.3,65.0:0,0:0,0:116,70:33,80:25,1:NM_017940.3(NBPF1) c.1905-174A>G,NM_017940.3(NBPF1) c.1905-174A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 16903209 rs78391721 C T 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=162;PC=0.004;Gene=NBPF1/NM_017940.4/1;CC=c.1905-233G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:8,8:208,229:0.00,21.93:0.00,0.00:0.00,21.93:0.00,1.00:0.00,0.00:0.00,1.00:50,56:41.2,63.9:0,0:0,0:131,129:18,21:11,9:-,NM_017940.3(NBPF1) c.1905-233G>A:-,NOT_FOUND:-,NOT_FOUND 1 16903451 rs61772343 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=296;Gene=NBPF1/NM_017940.4/1;CC=c.1904+361C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:6:6:0:0:3,3:103,94:9.93,0.00:8.14,0.00:1.79,0.00:0.73,0.00:0.73,0.00:0.67,0.00:56,55:34.3,0.0:0,0:0,0:61,22:89,129:30,11:NM_017940.3(NBPF1) c.1904+361C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16903639 rs200771324 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=55;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1904+173T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,C,T:31:31:0:0:27,3,1:863,102,8:0.00,7.40,-0.21:0.00,7.40,-0.21:0.00,0.00,0.00:0.00,0.42,0.00:0.00,0.42,0.00:0.00,0.00,0.00:60,40,6:76.3,204.3,107.0:0,0,0:0,0,0:33,27,52:118,124,99:23,6,0:-,NM_017940.3(NBPF1) c.1904+173T>G:-,NOT_FOUND:-,NOT_FOUND 1 16903651 rs201508584 C A 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=42;Gene=NBPF1/NM_017940.4/1;CC=c.1904+161G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:A,C:37:37:0:0:3,34:97,1058:6.61,0.00:6.61,0.00:0.00,0.00:0.38,0.00:0.38,0.00:0.00,0.00:40,60:204.3,79.2:0,0:0,0:39,30:112,120:6,22:NM_017940.3(NBPF1) c.1904+161G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16903663 rs684193 C T 97 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=277;PC=0.006;Gene=NBPF1/NM_017940.4/1;CC=c.1904+149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:48:0:0:17,31:583,954:0.00,96.63:0.00,96.63:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,40:59.8,104.5:0,0:0,0:34,34:117,117:21,24:-,NM_017940.3(NBPF1) c.1904+149G>A:-,NOT_FOUND:-,NOT_FOUND 1 16903674 rs613213 C T 111 nt VT=SNV;PN=A;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.030;Gene=NBPF1/NM_017940.4/1;CC=c.1904+138G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:56:0:0:22,35:738,1107:0.00,110.83:0.00,107.37:0.00,3.46:0.00,1.00:0.00,1.00:0.00,0.74:60,40:50.4,101.8:0,0:0,0:31,35:119,116:23,21:-,NM_017940.3(NBPF1) c.1904+138G>A:-,NOT_FOUND:-,NOT_FOUND 1 16903683 rs684166 T A 120 nt VT=SNV;PN=T;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=867;Gene=NBPF1/NM_017940.4/1;CC=c.1904+129A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:64:63:0:0:38,26:1202,813:119.50,0.00:115.75,0.00:3.75,0.00:1.00,0.00:1.00,0.00:0.73,0.00:55,60:98.7,52.1:0,0:0,0:36,29:114,122:21,23:NM_017940.3(NBPF1) c.1904+129A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16903686 rs373517373 G C 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=1;NP=637;Gene=NBPF1/NM_017940.4/1;CC=c.1904+126C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:65:64:0:0:14,51:416,1437:33.63,0.00:33.73,0.00:-0.11,0.00:1.00,0.00:1.00,0.00:0.48,0.00:60,60:35.2,90.4:0,0:0,0:32,36:118,115:25,19:NM_017940.3(NBPF1) c.1904+126C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16903736 rs4989435 A C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=NA;NP=1;NP=518;Gene=NBPF1/NM_017940.4/1;CC=c.1904+76T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,C:111:97:0:0:101,10:3244,340:0.00,24.19:0.00,17.97:0.00,6.21:0.00,0.98:0.00,1.00:0.00,0.94:60,42:33.8,132.3:0,0:0,0:40,74:108,76:27,38:-,NM_017940.3(NBPF1) c.1904+76T>G:-,NOT_FOUND:-,NOT_FOUND 1 16903780 rs76381029 C T 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.1904+32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:136:110:0:0:117,19:3930,624:0.00,47.59:0.00,31.52:0.00,16.07:0.00,1.00:0.00,1.00:0.00,1.00:60,56:30.5,56.5:0,0:0,0:65,60:86,90:26,12:-,NM_017940.3(NBPF1) c.1904+32G>A:-,NOT_FOUND:-,NOT_FOUND 1 16903882 rs672812 T C 28 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=1665;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.1834A>G;ProtCh=p.M612V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:A,C,G,T:93:32:0:0:1,11,1,80:25,371,14,2587:0.67,27.78,-0.13,0.00:0.98,0.60,-0.08,0.00:-0.30,27.18,-0.05,0.00:0.00,0.99,0.00,0.00:0.00,0.94,0.00,0.00:0.00,1.00,0.00,0.00:33,40,22,50:124.0,68.5,66.0,26.7:0,0,0,0:0,0,0,0:57,95,21,112:94,55,130,33:0,22,0,22:NM_017940.3(NBPF1) c.=,-:NOT_FOUND,-:0.043358,- 1 16903912 rs61772344 T A 243 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.067;Gene=NBPF1/NM_017940.4/1;CC=c.1804A>T;ProtCh=p.N602Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:A,C:70:2:0:0:69,1:2105,12:242.83,0.21:2.67,0.21:240.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,33:41.2,124.0:0,0:0,0:110,87:41,64:23,0:NM_017940.3(NBPF1) c.=,NM_017940.3(NBPF1) c.=:0.65,0.65:NOT_FOUND,NOT_FOUND 1 16904073 rs61772345 C A 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2638;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1802-159G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,C:8:0:0:0:7,1:229,29:24.93,0.00:0.00,0.00:24.93,0.00:1.00,0.00:0.00,0.00:1.00,0.00:49,40:76.1,110.0:0,0:0,0:106,149:45,2:24,0:NM_017940.3(NBPF1) c.1802-159G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16905492 rs28593516 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=492;Gene=NBPF1/NM_017940.4/1;CC=c.1801+196A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:C,T:37:37:0:0:4,33:136,870:10.02,0.00:10.02,0.00:0.00,0.00:0.60,0.00:0.60,0.00:0.00,0.00:50,56:89.2,42.2:0,0:0,0:77,29:74,115:13,20:NM_017940.3(NBPF1) c.1801+196A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16905518 rs4091716 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1;NP=38;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1801+170A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:56:56:0:0:12,3,41:341,46,1194:27.54,1.54,0.00:27.54,1.54,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:40,33,57:63.5,139.3,26.0:0,0,0:0,0,0:36,94,36:113,41,113:30,21,21:NM_017940.3(NBPF1) c.1801+170A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16905641 rs2210667 C G 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=343;NP=7;PC=0.068;Gene=NBPF1/NM_017940.4/1;CC=c.1801+47G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,G,T:41:33:0:0:34,6,1:1075,215,34:0.00,17.02,1.90:0.00,9.67,0.87:0.00,7.35,1.03:0.00,0.87,0.00:0.00,0.98,0.00:0.00,0.87,0.00:57,50,55:13.2,57.7,34.0:0,0,0:0,0,0:86,120,140:64,30,11:51,9,0:-,NM_017940.3(NBPF1) c.1801+47G>C:-,NOT_FOUND:-,NOT_FOUND 1 16905718 rs3738661 A C 31 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1544;PC=0.016;Gene=NBPF1/NM_017940.4/1;CC=c.1771T>G;ProtCh=p.C591G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:56:20:0:0:43,13:1386,379:0.00,30.94:0.00,-2.29:0.00,33.24:0.00,1.00:0.00,0.98:0.00,1.00:40,40:35.7,54.7:0,0:0,0:43,92:108,58:24,25:-,NM_017940.3(NBPF1) c.1771T>G (p.Cys591Gly):-,NOT_FOUND:-,NOT_FOUND 1 16905788 rs145220846 A G 34 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=57;Gene=NBPF1/NM_017940.4/1;CC=c.1701T>C;ProtCh=p.H567=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:45:0:0:63,13:1777,424:0.00,33.55:0.00,0.45:0.00,33.10:0.00,1.00:0.00,1.00:0.00,0.99:40,40:26.7,109.8:0,0:0,0:60,112:90,39:26,9:-,NM_017940.3(NBPF1) c.1700G>A (p.Arg567His):-,NOT_FOUND:-,NOT_FOUND 1 16905789 rs141419018 T C 28 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=21;Gene=NBPF1/NM_017940.4/1;CC=c.1700A>G;ProtCh=p.H567R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:45:0:0:14,62:372,1814:28.18,0.00:1.37,0.00:26.81,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,40:108.6,25.7:0,0:0,0:108,61:40,89:10,26:NM_017940.3(NBPF1) c.1701C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 16905800 rs199652869 G A 27 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=16;PC=0.004;Gene=NBPF1/NM_017940.4/1;CC=c.1689C>T;ProtCh=p.N563=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:44:0:0:12,62:359,1752:27.45,0.00:1.80,0.00:25.65,0.00:1.00,0.00:1.00,0.00:0.98,0.00:40,40:110.9,29.4:0,0:0,0:119,68:29,81:8,22:NM_017940.3(NBPF1) c.1686G>C (p.Met562Ile),-:NOT_FOUND,-:NOT_FOUND,- 1 16905842 rs200194071 A G 100 nt VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.1647T>C;ProtCh=p.P549=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:46:0:0:37,33:1139,1052:0.00,99.91:0.00,85.07:0.00,14.84:0.00,1.00:0.00,1.00:0.00,1.00:40,40:20.6,46.8:0,0:0,0:95,88:54,62:37,26:-,NM_017940.3(NBPF1) c.1647T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 16905978 rs2021196 C T 191 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.3335,T/0.6665;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1592-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:T:51:5:0:0:51:1665:190.76:12.28:178.48:1.00:1.00:1.00:51:43.7:0:0:81:70:30:NM_017940.3(NBPF1) c.1592-81G>A,NM_017940.3(NBPF1) c.1592-81G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 16906064 rs4661832 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=34;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1592-167T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,G:38:0:0:0:35,3:1044,103:0.00,7.18:0.00,0.00:0.00,7.18:0.00,0.38:0.00,0.00:0.00,0.38:55,33:38.9,92.3:0,0:0,0:123,66:28,84:21,11:-,NM_017940.3(NBPF1) c.1592-167T>C:-,NOT_FOUND:-,NOT_FOUND 1 16906093 rs9793675 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1592-196C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:22:0:0:0:3,19:107,550:8.33,0.00:0.00,0.00:8.33,0.00:0.48,0.00:0.00,0.00:0.48,0.00:33,55:92.3,23.1:0,0:0,0:95,98:55,51:11,36:NM_017940.3(NBPF1) c.1592-196C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16906907 rs201399838 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=272;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.1591+333A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,T:5:5:0:0:4,1:141,30:14.92,0.00:14.92,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:40,40:122.5,130.0:0,0:0,0:50,36:99,112:16,0:NM_017940.3(NBPF1) c.1591+333A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16906973 rs143324808 G T 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1313;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1591+267C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,T:12:12:0:0:3,9:78,279:0.00,29.30:0.00,29.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:4.0,106.4:0,0:0,0:44,84:107,67:16,47:-,NM_017940.3(NBPF1) c.1591+267C>A:-,NOT_FOUND:-,NOT_FOUND 1 16906990 rs148747505 G A 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1797;PC=0.010;Gene=NBPF1/NM_017940.4/1;CC=c.1591+250C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:16:16:0:0:12,4:344,111:36.19,0.00:36.19,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:111.8,3.0:0,0:0,0:29,49:121,102:21,20:NM_017940.3(NBPF1) c.1591+250C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16907107 rs77432139 A C 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;PC=0.918;Gene=NBPF1/NM_017940.4/1;CC=c.1591+133T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:98:96:0:0:80,17,1:2504,510,10:0.00,39.62,-0.25:0.00,38.12,-0.24:0.00,1.49,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.48,0.00:60,60,59:71.1,122.8,122.0:0,0,0:0,0,0:40,57,28:109,94,122:27,27,0:-,NM_017940.3(NBPF1) c.1591+133T>G:-,NOT_FOUND:-,NOT_FOUND 1 16907110 rs77700260 T C 285 nt VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=0.784;Gene=NBPF1/NM_017940.4/1;CC=c.1591+130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:105:103:0:0:82,1,22:2695,11,650:285.47,0.03,0.00:279.64,0.04,0.00:5.83,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,54,60:89.9,116.0,40.8:0,0,0:0,0,0:37,33,49:112,100,100:30,0,25:NM_017940.3(NBPF1) c.1591+130A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16907124 rs615115 A C 434 nt VT=SNV;PN=G;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.1591+116T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A,C,G:125:123:0:0:8,116,1:234,3919,25:0.00,434.30,0.90:0.00,428.15,0.91:0.00,6.15,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.6,76.3,194.0:0,0,0:0,0,0:53,43,83:97,107,68:50,28,0:NM_017940.3(NBPF1) c.1591+116T>G,NM_017940.3(NBPF1) c.1591+116T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16907303 rs681623 C T 127 nt VT=SNV;PN=G;NN=T;SST=Single;DP=766;DB;DBA=NA;PAF=NA;NP=844;Gene=NBPF1/NM_017940.4/1;CC=c.1528G>A;ProtCh=p.A510T;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,C,T:766:686:0:0:1,696,69:11,23241,1943:-0.29,0.00,127.39:-0.23,0.00,98.27:-0.06,0.00,29.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,51:50.0,31.8,46.2:0,0,0:0,0,0:9,58,42:142,92,108:0,34,23:-,NM_017940.3(NBPF1) c.1528G>A (p.Ala510Thr):-,NOT_FOUND:-,NOT_FOUND 1 16907328 rs78540200 G T 2152 nt VT=SNV;PN=A;NN=G;SST=Single;DP=901;DB;DBA=NA;PAF=NA;NP=3462;PC=0.031;Gene=NBPF1/NM_017940.4/1;CC=c.1503C>A;ProtCh=p.T501=;VC=Silent;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:901:752:0:0:1,256,644:7,8292,20782:-0.11,0.00,2151.77:-0.08,0.00,1509.57:-0.03,0.00,642.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,52:20.0,19.5,40.2:0,0,1:0,0,0:14,42,53:135,106,97:0,31,32:-,NM_017940.3(NBPF1) c.=:-,NOT_FOUND:-,NOT_FOUND 1 16907466 rs371465077 G A 465 nt VT=SNV;PN=T;NN=G;SST=Single;DP=915;DB;DBA=NA;PAF=NA;NP=2761;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1380-15C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:915:355:0:0:171,743,1:5741,23773,11:464.53,0.00,-0.31:99.70,0.00,-0.08:364.84,0.00,-0.23:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,56,40:53.7,12.6,42.0:0,0,0:0,0,0:98,114,112:48,34,37:30,21,0:NM_017940.3(NBPF1) c.1380-15C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16907547 rs142893461 C G 865 nt VT=SNV;PN=A;NN=A;SST=Single;DP=379;DB;DBA=NA;PAF=NA;NP=2814;Gene=NBPF1/NM_017940.4/1;CC=c.1380-96G>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:379:3:0:0:2,118,258,1:24,3820,8437,7:-0.05,0.00,865.15,-0.14:-0.00,0.00,6.82,-0.00:-0.05,0.00,858.32,-0.14:0.00,0.00,1.00,0.00:0.00,0.00,0.97,0.00:0.00,0.00,1.00,0.00:40,40,40,27:59.0,12.7,56.6,145.0:0,0,1,0:0,0,0,0:111,103,103,117:39,46,47,33:22,29,31,0:-,NM_017940.3(NBPF1) c.1380-96G>C:-,NOT_FOUND:-,NOT_FOUND 1 16907619 rs151032900 G A 332 nt VT=SNV;PN=A;NN=C;SST=Single;DP=168;DB;DBA=NA;PAF=NA;NP=1986;Gene=NBPF1/NM_017940.4/1;CC=c.1380-168C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:168:9:0:0:113,55:3246,1813:331.92,0.00:16.28,0.00:315.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:58.1,23.8:0,0:0,0:99,102:51,48:33,29:NM_017940.3(NBPF1) c.1380-168C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16907766 rs115167116 A G 200 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=2520;Gene=NBPF1/NM_017940.4/1;CC=c.1379+149T>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:G:58:49:0:0:58:1722:199.56:156.73:42.83:1.00:1.00:1.00:49:53.3:0:0:63:88:28:NM_017940.3(NBPF1) c.1379+149T>C,NM_017940.3(NBPF1) c.1379+149T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16907854 rs9729861 T A 161 nt VT=SNV;PN=G;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1379+61A>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:130:106:0:0:54,76:1737,2390:161.11,0.00:116.20,0.00:44.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,55:74.3,19.5:0,0:0,0:53,41:93,110:26,25:NM_017940.3(NBPF1) c.1379+61A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16907871 rs9728933 C T 198 nt VT=SNV;PN=T;NN=A;SST=Single;DP=153;DB;DBA=NA;PAF=NA;PC=0.089;Gene=NBPF1/NM_017940.4/1;CC=c.1379+44G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:153:124:0:0:87,66:2940,2120:0.00,198.03:0.00,142.50:0.00,55.53:0.00,1.00:0.00,1.00:0.00,1.00:55,56:19.0,65.5:0,0:0,0:50,57:99,91:25,34:-,NM_017940.3(NBPF1) c.1379+44G>A:-,NOT_FOUND:-,NOT_FOUND 1 16908027 . C A 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=140;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1307-40G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,C:140:65:0:0:12,128:390,4092:27.00,0.00:23.59,0.00:3.41,0.00:0.99,0.00:0.98,0.00:1.00,0.00:42,60:85.8,12.5:0,0:0,0:56,84:94,67:24,30:NM_017940.3(NBPF1) c.1307-40G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16908034 rs2119897 C G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=138;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1307-47G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,G:138:60:0:0:125,13:4077,382:0.00,26.00:0.00,11.84:0.00,14.17:0.00,1.00:0.00,0.98:0.00,1.00:60,40:12.3,82.6:0,0:0,0:91,48:60,103:26,29:-,NM_017940.3(NBPF1) c.1307-47G>C:-,NOT_FOUND:-,NOT_FOUND 1 16908080 rs2119896 G A 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.1307-93C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:32:0:0:26,93:787,3099:64.00,0.00:16.87,0.00:47.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:78.3,13.7:0,0:0,0:74,110:76,41:40,27:NM_017940.3(NBPF1) c.1307-93C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16908115 rs647061 A G 110 nt VT=SNV;PN=T;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.1307-128T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:12:0:0:53,35:1742,1186:0.00,109.61:0.00,4.42:0.00,105.19:0.00,1.00:0.00,0.99:0.00,1.00:60,60:37.8,37.2:0,0:0,0:90,112:60,39:33,23:-,NM_017940.3(NBPF1) c.1307-128T>C:-,NOT_FOUND:-,NOT_FOUND 1 16908181 rs61773576 C T 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=941;Gene=NBPF1/NM_017940.4/1;CC=c.1307-194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:2:0:0:30,17:958,490:0.00,43.72:0.00,1.57:0.00,42.15:0.00,1.00:0.00,0.66:0.00,1.00:60,56:29.0,55.5:0,0:0,0:107,105:41,39:28,20:-,NM_017940.3(NBPF1) c.1307-194G>A:-,NOT_FOUND:-,NOT_FOUND 1 16908275 rs58370211 T G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1307-288A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:G,T:8:0:0:0:5,3:169,89:16.99,0.00:0.00,0.00:16.99,0.00:0.97,0.00:0.00,0.00:0.97,0.00:43,54:33.8,18.0:0,0:0,0:125,105:26,44:9,31:NM_017940.3(NBPF1) c.1307-288A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16908753 rs587275 C A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5529,A/0.4471;NP=568;Gene=NBPF1/NM_017940.4/1;CC=c.1306+286G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,C:4:3:0:0:3,1:82,35:8.63,0.00:5.08,0.00:3.56,0.00:0.85,0.00:0.99,0.00:0.95,0.00:40,27:38.0,25.0:0,0:0,0:41,115:110,36:41,0:NM_017940.3(NBPF1) c.1306+286G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16908867 rs643850 C A 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1208;Gene=NBPF1/NM_017940.4/1;CC=c.1306+172G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:25:23:0:0:17,8:502,264:51.46,0.00:46.57,0.00:4.89,0.00:1.00,0.00:1.00,0.00:0.91,0.00:51,51:61.2,40.8:0,0:0,0:38,24:111,124:15,16:NM_017940.3(NBPF1) c.1306+172G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16908914 rs643471 G A 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2621;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1306+125C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:55:0:0:26,30:773,1034:72.86,0.00:67.68,0.00:5.18,0.00:1.00,0.00:1.00,0.00:0.86,0.00:51,51:65.0,19.8:0,0:0,0:41,39:108,112:32,22:NM_017940.3(NBPF1) c.1306+125C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16908989 rs144184209 C T 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=2285;Gene=NBPF1/NM_017940.4/1;CC=c.1306+50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,C,T:71:68:0:0:1,62,8:10,1995,245:-0.24,0.00,17.53:-0.20,0.00,15.01:-0.05,0.00,2.52:0.00,0.00,0.94:0.00,0.00,1.00:0.00,0.00,0.75:50,55,51:10.0,30.7,74.8:0,0,0:0,0,0:95,87,73:56,63,78:0,23,27:-,NM_017940.3(NBPF1) c.1306+50G>A:-,NOT_FOUND:-,NOT_FOUND 1 16909052 rs140548913 C T 188 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2935;PC=0.010;Gene=NBPF1/NM_017940.4/1;CC=c.1293G>A;ProtCh=p.Q431=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C,T:56:35:0:0:2,54:23,1656:0.00,187.95:0.00,91.14:0.00,96.81:0.00,1.00:0.00,1.00:0.00,1.00:40,55:39.0,66.2:0,0:0,0:27,87:123,47:20,41:NM_017940.3(NBPF1) c.=,NM_017940.3(NBPF1) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16909100 rs143269469 G C 70 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=2611;PC=0.368;Gene=NBPF1/NM_017940.4/1;CC=c.1245C>G;ProtCh=p.L415=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:53:4:0:0:23,30:749,1007:70.10,0.00:-0.99,0.00:71.09,0.00:1.00,0.00:0.90,0.00:1.00,0.00:40,40:91.7,40.2:0,0:0,0:90,66:60,84:36,32:NM_017940.3(NBPF1) c.1245C>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 16909129 rs199798572 T C 100 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=2203;PC=0.015;Gene=NBPF1/NM_017940.4/1;CC=c.1216A>G;ProtCh=p.K406E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:5:0:0:31,24:1021,722:100.48,0.00:-1.80,0.00:102.27,0.00:1.00,0.00:0.98,0.00:1.00,0.00:40,40:79.9,25.8:0,0:0,0:87,88:64,61:42,32:NM_017940.3(NBPF1) c.=,-:NOT_FOUND,-:NOT_FOUND,- 1 16909208 rs61773582 C G 12 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=128;PC=0.258;Gene=NBPF1/NM_017940.4/1;CC=c.1137G>C;ProtCh=p.Q379H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,G:44:7:0:0:38,6:1312,166:0.00,11.90:0.00,13.53:0.00,-1.63:0.00,0.86:0.00,0.60:0.00,0.98:40,40:31.2,56.0:0,0:0,0:83,55:67,93:28,24:-,NM_017940.3(NBPF1) c.1137G>C (p.Gln379His):-,NOT_FOUND:-,NOT_FOUND 1 16909220 rs201826071 T C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=1057;PC=0.125;Gene=NBPF1/NM_017940.4/1;CC=c.1125A>G;ProtCh=p.R375=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,G,T:41:7:0:0:7,1,33:208,5,1087:16.12,-0.29,0.00:-0.49,-0.01,0.00:16.61,-0.29,0.00:0.94,0.00,0.00:0.69,0.00,0.00:0.99,0.00,0.00:40,40,40:29.7,178.0,32.2:0,0,0:0,0,0:105,46,80:46,84,71:15,0,31:NM_017940.3(NBPF1) c.1125A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 16909304 rs368425552 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=124;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.1092-51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:12:3:0:0:9,3:254,80:0.00,6.50:0.00,0.99:0.00,5.52:0.00,0.59:0.00,0.61:0.00,0.91:40,40:43.2,106.3:0,0:0,0:103,130:46,17:42,4:-,NM_017940.3(NBPF1) c.1092-51G>A:-,NOT_FOUND:-,NOT_FOUND 1 16909306 rs3962261 T C 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=983;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.1092-53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:C,G,T:12:2:0:0:6,1,5:204,10,154:19.95,0.31,0.00:-0.60,-0.08,0.00:20.55,0.39,0.00:0.98,0.00,0.00:0.79,0.00,0.00:0.95,0.00,0.00:40,40,40:34.0,151.0,70.6:0,0,0:0,0,0:111,63,122:39,88,26:23,0,10:NM_017940.3(NBPF1) c.1092-53A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16909376 rs201139087 GT G 7 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GT/0.7644,G/0.2356;NP=663;Gene=NBPF1/NM_017940.4/1;CC=c.1092-124delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:GT,T,G:9:0:0:3:5,1,3:173,11,81:0.00,0.42,7.22:0.00,0.00,0.00:0.00,0.42,7.22:0.00,0.00,0.64:0.00,0.00,0.00:0.00,0.00,0.64:27,40,27:20.8,151.0,15.0:0,0,0:0,0,0:58,133,45:92,18,105:18,0,31:-,NM_017940.3(NBPF1) c.1092-124delA:-,NOT_FOUND:-,NOT_FOUND 1 16909800 rs4098132 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.1091+289C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:6:6:0:0:5,1:137,34:14.88,0.00:14.88,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:42,42:41.4,33.0:0,0:0,0:73,4:77,146:54,0:NM_017940.3(NBPF1) c.1091+289C>T,-:0.08,-:NOT_FOUND,- 1 16909895 rs567331279 A G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.9373,G/0.0627;NP=1;NP=1;Gene=NBPF1/NM_017940.4/1;CC=c.1091+194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:23:23:0:0:19,4:586,129:0.00,10.20:0.00,10.20:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:42,40:24.4,88.5:0,0:0,0:20,27:131,123:19,15:-,NM_017940.3(NBPF1) c.1091+194T>C:-,NOT_FOUND:-,NOT_FOUND 1 16909998 rs202228513 C T 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=728;PC=0.013;Gene=NBPF1/NM_017940.4/1;CC=c.1091+91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:70:0:0:59,12:1819,363:0.00,28.06:0.00,20.50:0.00,7.56:0.00,1.00:0.00,1.00:0.00,0.53:51,51:36.1,49.0:0,0:0,0:54,32:97,118:29,24:-,NM_017940.3(NBPF1) c.1091+91G>A:-,NOT_FOUND:-,NOT_FOUND 1 16910024 . C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;NP=3;Gene=NBPF1/NM_017940.4/1;CC=c.1091+65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:95:93:0:0:1,80,14:12,2463,469:-0.21,0.00,36.41:-0.18,0.00,33.72:-0.03,0.00,2.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.80:41,60,41:152.0,31.4,71.1:0,0,0:0,0,0:7,57,62:143,92,88:0,33,37:-,NM_017940.3(NBPF1) c.1091+65G>A:-,NOT_FOUND:-,NOT_FOUND 1 16910064 rs2023254 A G 322 nt VT=SNV;PN=C;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=A/0.5104,C/.,G/0.4896,T/.;NP=299;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.1091+25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:144:128:0:0:41,102,1:1259,3108,13:0.00,321.88,0.02:0.00,221.44,0.06:0.00,100.44,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,56,43:22.5,43.3,67.0:0,0,0:0,0,0:44,27,94:106,122,57:28,15,0:-,NM_017940.3(NBPF1) c.1091+25T>C:-,NOT_FOUND:-,NOT_FOUND 1 16910302 rs3926652 C T 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=580;Gene=NBPF1/NM_017940.4/1;CC=c.989-111G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,G,T:34:0:0:0:27,1,6:823,10,201:0.00,-0.10,16.17:0.00,0.00,0.00:0.00,-0.10,16.17:0.00,0.00,0.89:0.00,0.00,0.00:0.00,0.00,0.89:40,40,40:34.4,39.0,44.8:0,0,0:0,0,0:116,46,125:35,105,24:16,0,15:-,NM_017940.3(NBPF1) c.989-111G>A:-,NOT_FOUND:-,NOT_FOUND 1 16910350 rs3926653 C A 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=65;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.989-159G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:14:0:0:0:7,7:223,204:21.44,0.00:0.00,0.00:21.44,0.00:0.99,0.00:0.00,0.00:0.99,0.00:40,60:62.9,10.4:0,0:0,0:120,94:30,57:12,29:NM_017940.3(NBPF1) c.989-159G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16910392 rs3926654 G A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=152;Gene=NBPF1/NM_017940.4/1;CC=c.989-201C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:8:0:0:0:3,5:104,142:9.54,0.00:0.00,0.00:9.54,0.00:0.67,0.00:0.00,0.00:0.67,0.00:40,60:88.3,14.6:0,0:0,0:91,119:60,31:22,17:NM_017940.3(NBPF1) c.989-201C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16910441 rs4661840 C G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.989-250G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,G:7:0:0:0:3,4:71,111:0.00,10.94:0.00,0.00:0.00,10.94:0.00,0.90:0.00,0.00:0.00,0.90:60,41:3.7,71.2:0,0:0,0:9,80:141,65:5,43:-,NM_017940.3(NBPF1) c.989-250G>C:-,NOT_FOUND:-,NOT_FOUND 1 16911684 rs112842041 G A 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=382;PC=0.012;Gene=NBPF1/NM_017940.4/1;CC=c.988+300C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,G:9:9:0:0:3,6:78,174:6.73,0.00:6.73,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:27,52:70.3,22.8:0,0:0,0:38,11:97,139:6,6:NM_017940.3(NBPF1) c.988+300C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16911937 rs28429832 C G 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=74;PC=0.088;Gene=NBPF1/NM_017940.4/1;CC=c.988+47G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:31:0:0:27,10:834,335:0.00,28.91:0.00,29.80:0.00,-0.89:0.00,1.00:0.00,1.00:0.00,0.86:53,27:43.6,52.9:0,0:0,0:44,54:107,96:30,38:-,NM_017940.3(NBPF1) c.988+47G>C:-,NOT_FOUND:-,NOT_FOUND 1 16911943 rs200170371 T A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1040;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.988+41A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:37:31:0:0:11,26:380,819:33.48,0.00:32.67,0.00:0.81,0.00:1.00,0.00:1.00,0.00:0.89,0.00:54,53:92.0,27.9:0,0:0,0:57,56:94,95:40,35:NM_017940.3(NBPF1) c.988+41A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16911946 rs200888436 G A 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=993;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.988+38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:31:0:0:11,26:362,702:31.72,0.00:30.90,0.00:0.81,0.00:1.00,0.00:1.00,0.00:0.89,0.00:54,53:92.0,27.9:0,0:0,0:60,59:91,92:40,35:NM_017940.3(NBPF1) c.988+38C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16912014 rs143097321 A C 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=2425;PC=0.026;Gene=NBPF1/NM_017940.4/1;CC=c.958T>G;ProtCh=p.C320G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:72:62:0:0:56,16:1798,515:0.00,42.58:0.00,40.14:0.00,2.44:0.00,1.00:0.00,1.00:0.00,0.88:40,40:21.1,73.1:0,0:0,0:44,50:107,100:28,36:-,NM_017940.3(NBPF1) c.=:-,NOT_FOUND:-,NOT_FOUND 1 16912015 rs58689366 G A 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.8676,A/0.1324;PC=0.016;Gene=NBPF1/NM_017940.4/1;CC=c.957C>T;ProtCh=p.A319=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:75:65:0:0:8,67:263,2104:19.07,0.00:16.41,0.00:2.66,0.00:0.94,0.00:1.00,0.00:0.61,0.00:40,40:109.9,22.1:0,0:0,0:53,45:97,106:44,29:NM_017940.3(NBPF1) c.957_958delCGinsTT (p.Gly320Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 16912231 rs28502538 A G 109 nt VT=SNV;PN=A;NN=C;SST=Single;DP=243;DB;DBA=NA;PAF=NA;NP=1280;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.779-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:243:96:0:0:202,1,39,1:6056,20,1366,10:0.00,-0.01,108.95,-0.31:0.00,-0.09,29.95,-0.09:0.00,0.08,79.00,-0.21:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,52,60,27:23.0,187.0,46.0,55.0:0,0,0,0:0,0,0,0:90,2,80,69:59,149,70,80:19,0,25,0:-,NM_017940.3(NBPF1) c.779-38T>C:-,NOT_FOUND:-,NOT_FOUND 1 16912299 rs61773587 A G 198 nt VT=SNV;PN=A;NN=A;SST=Single;DP=164;DB;DBA=NA;PAF=NA;NP=1812;NP=4;Gene=NBPF1/NM_017940.4/1;CC=c.779-106T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:164:2:0:0:96,1,67:2957,10,2136:0.00,-0.19,197.60:0.00,-0.00,-0.34:0.00,-0.18,197.94:0.00,0.00,1.00:0.00,0.00,0.71:0.00,0.00,1.00:60,27,52:36.1,179.0,69.1:0,0,0:0,0,0:111,73,103:40,77,48:31,0,33:-,NM_017940.3(NBPF1) c.779-106T>C:-,NOT_FOUND:-,NOT_FOUND 1 16912315 rs4999346 T A 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=490;PC=0.029;Gene=NBPF1/NM_017940.4/1;CC=c.779-122A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,T:122:1:0:0:12,110:343,3472:23.11,0.00:-0.04,0.00:23.16,0.00:0.99,0.00:0.40,0.00:1.00,0.00:60,60:56.6,59.0:0,0:0,0:132,95:18,55:13,27:NM_017940.3(NBPF1) c.779-122A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16912330 rs4336845 C T 367 nt VT=SNV;PN=T;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.779-137G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:102:1:0:0:1,101:21,3209:0.00,366.63:0.00,3.77:0.00,362.86:0.00,1.00:0.00,0.99:0.00,1.00:27,60:73.0,65.6:0,0:0,0:134,104:17,46:0,26:NM_017940.3(NBPF1) c.779-137G>A,NM_017940.3(NBPF1) c.779-137G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16912399 rs61773588 A T 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF1/NM_017940.4/1;CC=c.779-206T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:39:1:0:0:27,12:798,387:0.00,33.98:0.00,-0.16:0.00,34.14:0.00,1.00:0.00,0.54:0.00,1.00:60,51:33.0,136.1:0,0:0,0:111,121:40,29:26,20:-,NM_017940.3(NBPF1) c.779-206T>A:-,NOT_FOUND:-,NOT_FOUND 1 16912405 rs61773589 A G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=16;Gene=NBPF1/NM_017940.4/1;CC=c.779-212T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:39:2:0:0:28,1,10:785,10,326:0.00,-0.10,27.87:0.00,-0.02,-0.26:0.00,-0.07,28.13:0.00,0.00,1.00:0.00,0.00,0.54:0.00,0.00,1.00:60,60,43:42.0,45.0,142.9:0,0,0:0,0,0:102,24,121:48,125,28:30,0,21:-,NM_017940.3(NBPF1) c.779-212T>C:-,NOT_FOUND:-,NOT_FOUND 1 16912433 rs371815501 A C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=82;PC=0.005;Gene=NBPF1/NM_017940.4/1;CC=c.779-240T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,C:27:2:0:0:21,6:648,167:0.00,13.36:0.00,-0.22:0.00,13.58:0.00,0.91:0.00,0.50:0.00,0.99:60,60:78.7,44.7:0,0:0,0:94,36:55,114:35,25:-,NM_017940.3(NBPF1) c.779-240T>G:-,NOT_FOUND:-,NOT_FOUND 1 16912443 . G T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;NP=16;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.779-250C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:G,T:24:2:0:0:18,6:569,198:0.00,16.80:0.00,-0.25:0.00,17.05:0.00,0.92:0.00,0.53:0.00,0.99:60,33:45.3,189.2:0,0:0,0:79,67:71,80:34,33:-,NM_017940.3(NBPF1) c.779-250C>A:-,NOT_FOUND:-,NOT_FOUND 1 16912507 rs11260805 C G 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.779-314G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:1:0:0:10,9:313,319:0.00,30.49:0.00,3.75:0.00,26.73:0.00,1.00:0.00,0.65:0.00,1.00:60,52:35.3,200.1:0,0:0,0:97,102:52,48:32,29:-,NM_017940.3(NBPF1) c.779-314G>C:-,NOT_FOUND:-,NOT_FOUND 1 16912514 rs11260806 C T 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.779-321G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:1:0:0:10,7:257,232:0.00,21.54:0.00,3.49:0.00,18.05:0.00,0.98:0.00,0.61:0.00,1.00:60,52:35.3,218.0:0,0:0,0:104,82:45,68:32,27:-,NM_017940.3(NBPF1) c.779-321G>A:-,NOT_FOUND:-,NOT_FOUND 1 16912515 rs11260807 G A 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.779-322C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:1:0:0:7,10:232,327:21.54,0.00:3.49,0.00:18.05,0.00:0.98,0.00:0.61,0.00:1.00,0.00:52,60:218.0,35.3:0,0:0,0:83,105:67,44:27,32:NM_017940.3(NBPF1) c.779-322C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16912524 rs11260808 C A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF1/NM_017940.4/1;CC=c.779-331G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:1:0:0:7,9:204,253:18.95,0.00:1.76,0.00:17.19,0.00:0.98,0.00:0.62,0.00:0.98,0.00:52,60:218.0,39.2:0,0:0,0:92,109:58,39:27,34:NM_017940.3(NBPF1) c.779-331G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16912551 rs12133501 A G 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=22;PC=0.024;Gene=NBPF1/NM_017940.4/1;CC=c.779-358T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:16:2:0:0:7,1,8:242,5,251:0.00,-0.07,24.40:0.00,0.00,4.46:0.00,-0.07,19.94:0.00,0.00,1.00:0.00,0.00,0.79:0.00,0.00,1.00:60,60,52:19.3,124.0,225.2:0,0,0:0,0,0:87,88,106:64,63,44:49,0,32:-,NM_017940.3(NBPF1) c.779-358T>C:-,NOT_FOUND:-,NOT_FOUND 1 16912573 rs28679364 G C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.015;Gene=NBPF1/NM_017940.4/1;CC=c.779-380C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:C,G:11:0:0:0:5,6:165,185:15.60,0.00:0.00,0.00:15.60,0.00:0.93,0.00:0.00,0.00:0.93,0.00:52,60:238.0,22.7:0,0:0,0:118,93:32,58:21,33:NM_017940.3(NBPF1) c.779-380C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16912591 rs12129151 G T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.028;Gene=NBPF1/NM_017940.4/1;CC=c.779-398C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:G,T:8:0:0:0:5,3:162,102:0.00,9.33:0.00,0.00:0.00,9.33:0.00,0.67:0.00,0.00:0.00,0.67:60,52:24.8,234.3:0,0:0,0:95,121:56,30:33,15:-,NM_017940.3(NBPF1) c.779-398C>A:-,NOT_FOUND:-,NOT_FOUND 1 16913416 rs76915367 G C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1011;PC=0.017;Gene=NBPF1/NM_017940.4/1;CC=c.778+129C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,G,T:12:12:0:0:7,4,1:203,132,9:20.46,0.00,0.27:20.46,0.00,0.27:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:51,55,50:30.3,5.2,144.0:0,0,0:0,0,0:60,51,29:91,98,116:31,28,0:NM_017940.3(NBPF1) c.778+129C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16913470 rs28414174 A G 6 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.9962,G/0.003794;NP=41;Gene=NBPF1/NM_017940.4/1;CC=c.778+75T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,G:39:39:0:0:36,3:1046,96:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.38:0.00,0.38:0.00,0.00:55,21:28.8,43.7:0,0:0,0:25,0:126,151:20,0:-,NM_017940.3(NBPF1) c.778+75T>C:-,NOT_FOUND:-,NOT_FOUND 1 16913584 rs629538 A C 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.010;Gene=NBPF1/NM_017940.4/1;CC=c.739T>G;ProtCh=p.S247A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:121:116:0:0:94,27:2922,873:0.00,72.33:0.00,59.63:0.00,12.70:0.00,1.00:0.00,1.00:0.00,1.00:60,50:11.7,74.7:0,0:0,0:67,77:84,69:32,15:-,NM_017940.3(NBPF1) c.739T>G (p.Ser247Ala):-,NOT_FOUND:-,0.155295 1 16913612 rs629889 G A 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.711C>T;ProtCh=p.N237=;VC=Silent;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:124:113:0:0:23,2,99:729,22,3297:58.25,-0.31,0.00:40.37,-0.16,0.00:17.88,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,3,60:70.0,73.5,10.1:0,0,0:0,0,0:97,122,88:52,24,59:13,12,30:NM_017940.3(NBPF1) c.711C>T (p.(=)),-:NOT_FOUND,-:0.135012,- 1 16913677 rs71263230 T C 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.7542,C/0.2458;Gene=NBPF1/NM_017940.4/1;CC=c.646A>G;ProtCh=p.S216G;VC=Missense;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:117:75:0:0:23,1,93:668,5,3058:52.71,-0.34,0.00:2.25,-0.19,0.00:50.46,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,27,60:47.3,37.0,7.1:0,0,0:0,0,0:85,80,51:63,71,95:23,0,26:NM_017940.3(NBPF1) c.=,-:NOT_FOUND,-:NOT_FOUND,- 1 16913852 rs200046304 C G 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.5098,G/0.4902;NP=1901;PC=0.027;Gene=NBPF1/NM_017940.4/1;CC=c.567-96G>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:57:8:0:0:1,39,17:8,1226,580:-0.20,0.00,51.19:-0.05,0.00,4.98:-0.16,0.00,46.20:0.00,0.00,1.00:0.00,0.00,0.92:0.00,0.00,1.00:27,40,40:70.0,13.7,46.0:0,0,0:0,0,0:97,92,106:46,59,44:0,36,16:-,NM_017940.3(NBPF1) c.567-96G>C:-,NOT_FOUND:-,NOT_FOUND 1 16914117 rs79378595 C T 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=640;PC=0.007;Gene=NBPF1/NM_017940.4/1;CC=c.566+103G>A;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:47:0:0:45,18:1438,550:0.00,47.26:0.00,36.56:0.00,10.70:0.00,1.00:0.00,1.00:0.00,1.00:60,43:19.3,83.1:0,0:0,0:77,52:60,99:41,36:-,NM_017940.3(NBPF1) c.566+103G>A:-,NOT_FOUND:-,NOT_FOUND 1 16914139 rs3098812 C A 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.7534,A/0.2466;NP=1;NP=1811;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.566+81G>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:60:43:0:0:11,49:362,1550:29.05,0.00:21.96,0.00:7.09,0.00:1.00,0.00:1.00,0.00:0.97,0.00:55,60:45.1,36.9:0,0:0,0:66,88:73,62:17,40:NM_017940.3(NBPF1) c.566+81G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16914160 rs2023215 G A 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=3206;PC=0.022;Gene=NBPF1/NM_017940.4/1;CC=c.566+60C>T;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:48:0:0:19,42:525,1348:45.11,0.00:30.43,0.00:14.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:94.1,17.1:0,0:0,0:69,77:81,68:26,38:NM_017940.3(NBPF1) c.566+60C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16914168 rs2147033 C G 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=3356;PC=0.023;Gene=NBPF1/NM_017940.4/1;CC=c.566+52G>C;VC=Intron;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220;DM=NBPF1/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:62:49:0:0:43,19:1417,601:0.00,52.57:0.00,34.67:0.00,17.90:0.00,1.00:0.00,1.00:0.00,1.00:60,43:13.3,97.8:0,0:0,0:63,75:88,76:42,28:-,NM_017940.3(NBPF1) c.566+52G>C:-,NOT_FOUND:-,NOT_FOUND 1 16914252 rs1020241 C T 124 nt VT=SNV;PN=C;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF1/NM_017940.4/1;CC=c.534G>A;ProtCh=p.E178=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:122:92:0:0:81,41:2568,1379:0.00,123.66:0.00,79.45:0.00,44.21:0.00,1.00:0.00,1.00:0.00,1.00:60,57:15.3,86.9:0,0:0,0:39,46:112,104:22,23:-,NM_017940.3(NBPF1) c.534G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 16914306 rs1967910 A G 167 nt VT=SNV;PN=A;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF1/NM_017940.4/1;CC=c.494-14T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:156:110:0:0:101,1,54:3267,22,1845:0.00,0.32,166.76:0.00,-0.14,89.91:0.00,0.46,76.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,58:18.2,68.0,91.8:0,0,0:0,0,0:71,84,59:79,63,88:24,0,27:-,NM_017940.3(NBPF1) c.494-14T>C:-,NOT_FOUND:-,NOT_FOUND 1 16914325 . C T 49 nt VT=SNV;PN=C;NN=C;SST=Single;DP=159;NP=6;PC=0.018;Gene=NBPF1/NM_017940.4/1;CC=c.494-33G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:159:102:0:0:140,19:4416,650:0.00,48.82:0.00,27.19:0.00,21.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.6,108.9:0,0:0,0:76,97:72,45:26,34:-,NM_017940.3(NBPF1) c.494-33G>A:-,NOT_FOUND:-,NOT_FOUND 1 16914332 rs200480843 A C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=1923;PC=0.013;Gene=NBPF1/NM_017940.4/1;CC=c.494-40T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:159:98:0:0:138,21:4396,666:0.00,49.73:0.00,25.61:0.00,24.11:0.00,1.00:0.00,1.00:0.00,1.00:60,51:43.2,57.9:0,0:0,0:88,78:59,73:26,26:-,NM_017940.3(NBPF1) c.494-40T>G:-,NOT_FOUND:-,NOT_FOUND 1 16914396 rs2023276 C T 109 nt VT=SNV;PN=A;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=2746;Gene=NBPF1/NM_017940.4/1;CC=c.494-104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:112:44:0:0:74,38:2475,1225:0.00,109.47:0.00,32.94:0.00,76.53:0.00,1.00:0.00,1.00:0.00,1.00:60,55:20.5,98.2:0,0:0,0:93,119:57,29:31,22:-,NM_017940.3(NBPF1) c.494-104G>A:-,NOT_FOUND:-,NOT_FOUND 1 16914415 rs4233549 A G 115 nt VT=SNV;PN=T;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=1621;Gene=NBPF1/NM_017940.4/1;CC=c.494-123T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:22:0:0:52,36:1588,1233:0.00,114.67:0.00,23.53:0.00,91.14:0.00,1.00:0.00,1.00:0.00,1.00:60,43:10.1,94.9:0,0:0,0:90,115:59,36:42,22:-,NM_017940.3(NBPF1) c.494-123T>C:-,NOT_FOUND:-,NOT_FOUND 1 16914486 . C T 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;NP=274;Gene=NBPF1/NM_017940.4/1;CC=c.494-194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:0:0:0:34,10:1012,292:0.00,23.75:0.00,0.00:0.00,23.75:0.00,0.99:0.00,0.00:0.00,0.99:60,40:15.4,103.9:0,0:0,0:94,110:56,40:24,31:-,NM_017940.3(NBPF1) c.494-194G>A:-,NOT_FOUND:-,NOT_FOUND 1 16914503 rs4661385 T C 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=591;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.494-211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:C,T:37:0:0:0:6,31:182,1028:13.94,0.00:0.00,0.00:13.94,0.00:0.88,0.00:0.00,0.00:0.88,0.00:40,60:101.8,15.7:0,0:0,0:74,109:77,42:43,21:NM_017940.3(NBPF1) c.494-211A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16914580 rs28497995 G T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1;NP=282;Gene=NBPF1/NM_017940.4/1;CC=c.494-288C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,G,T:14:1:0:0:1,10,3:9,348,99:0.06,0.00,8.28:-0.03,0.00,-0.10:0.09,0.00,8.38:0.00,0.00,0.56:0.00,0.00,0.48:0.00,0.00,0.92:11,60,40:98.0,28.9,72.3:0,0,0:0,0,0:71,107,116:67,42,35:0,23,7:-,NM_017940.3(NBPF1) c.494-288C>A:-,NOT_FOUND:-,NOT_FOUND 1 16914597 rs4661386 T G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=246;NP=30;Gene=NBPF1/NM_017940.4/1;CC=c.494-305A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:A,G,T:12:1:0:0:1,5,6:8,172,172:0.13,16.30,0.00:-0.02,-0.12,0.00:0.15,16.42,0.00:0.00,0.92,0.00:0.00,0.61,0.00:0.00,0.92,0.00:11,40,60:98.0,80.2,28.8:0,0,0:0,0,0:88,126,97:50,24,45:0,7,32:NM_017940.3(NBPF1) c.494-305A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16915357 rs199859875 C T 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=801;PC=0.080;Gene=NBPF1/NM_017940.4/1;CC=c.480G>A;ProtCh=p.Q160=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:19:0:0:9,15:297,444:0.00,44.59:0.00,41.09:0.00,3.49:0.00,1.00:0.00,1.00:0.00,1.00:50,50:2.0,63.0:0,0:0,0:96,116:55,31:44,7:-,NM_017940.3(NBPF1) c.=:-,NOT_FOUND:-,NOT_FOUND 1 16915405 rs201355992 G C 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=5;PC=0.976;Gene=NBPF1/NM_017940.4/1;CC=c.432C>G;ProtCh=p.L144=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:16:0:0:9,15:276,473:24.99,0.00:26.62,0.00:-1.63,0.00:1.00,0.00:0.95,0.00:0.67,0.00:40,40:78.4,28.5:0,0:0,0:17,63:134,88:16,44:NM_017940.3(NBPF1) c.432C>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 16915434 rs202129231 T C 54 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=87;PC=0.036;Gene=NBPF1/NM_017940.4/1;CC=c.403A>G;ProtCh=p.K135E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:26:0:0:18,20:572,576:54.38,0.00:57.71,0.00:-3.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:56.8,43.9:0,0:0,0:38,33:111,116:19,22:NM_017940.3(NBPF1) c.=,-:NOT_FOUND,-:NOT_FOUND,- 1 16915513 rs368775000 C G 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=609;PC=0.094;Gene=NBPF1/NM_017940.4/1;CC=c.324G>C;ProtCh=p.Q108H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:66:50:0:0:1,53,12:10,1720,376:-0.20,0.00,29.85:-0.15,0.00,9.77:-0.06,0.00,20.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.92:20,40,40:86.0,41.7,50.2:0,0,0:0,0,0:26,74,80:122,75,69:0,29,17:-,NM_017940.3(NBPF1) c.324G>C (p.Gln108His):-,NOT_FOUND:-,NOT_FOUND 1 16915525 rs201237274 T C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.998,C/0.001997;NP=102;PC=0.971;Gene=NBPF1/NM_017940.4/1;CC=c.312A>G;ProtCh=p.R104=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:C,T:65:48:0:0:6,59:160,1929:10.30,0.00:10.52,0.00:-0.22,0.00:0.81,0.00:0.96,0.00:0.70,0.00:40,40:69.2,41.1:0,0:0,0:66,87:85,63:16,28:NM_017940.3(NBPF1) c.=,-:NOT_FOUND,-:NOT_FOUND,- 1 16915551 rs202151903 T C 22 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=6;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.286A>G;ProtCh=p.K96E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:C,T:56:41:0:0:8,48:283,1412:22.16,0.00:-2.74,0.00:24.90,0.00:0.96,0.00:0.99,0.00:0.83,0.00:40,40:43.6,43.8:0,0:0,0:110,97:40,53:21,25:NM_017940.3(NBPF1) c.286A>G (p.Lys96Glu),-:NOT_FOUND,-:NOT_FOUND,- 1 16915609 rs112459449 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=59;Gene=NBPF1/NM_017940.4/1;CC=c.279-51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:45:21:0:0:1,34,10:14,967,310:0.08,0.00,25.55:0.29,0.00,12.27:-0.21,0.00,13.28:0.00,0.00,0.99:0.00,0.00,0.98:0.00,0.00,1.00:20,40,41:62.0,36.5,63.7:0,0,0:0,0,0:143,70,46:7,80,101:0,45,28:-,NM_017940.3(NBPF1) c.279-51G>A:-,NOT_FOUND:-,NOT_FOUND 1 16915611 rs61773619 T C 86 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.8339,C/0.1661;NP=279;Gene=NBPF1/NM_017940.4/1;CC=c.279-53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:19:0:0:27,16:856,460:86.14,0.00:27.60,0.00:58.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,41:38.5,56.3:0,0:0,0:43,100:108,50:26,45:NM_017940.3(NBPF1) c.279-53A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16915818 rs4143501 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=14;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.279-260G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,C,T:16:2:0:0:1,9,6:10,282,192:0.17,0.00,17.67:-0.03,0.00,2.55:0.19,0.00,15.12:0.00,0.00,0.95:0.00,0.00,0.67:0.00,0.00,1.00:20,40,24:57.0,10.4,52.5:0,0,0:0,0,0:121,125,123:30,26,27:0,14,24:-,NM_017940.3(NBPF1) c.279-260G>A:-,NOT_FOUND:-,NOT_FOUND 1 16915827 . G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;NP=3;Gene=NBPF1/NM_017940.4/1;CC=c.279-269C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G:14:2:0:0:4,10:123,303:10.57,0.00:2.19,0.00:8.39,0.00:0.77,0.00:0.57,0.00:0.96,0.00:22,40:62.5,15.1:0,0:0,0:103,132:47,19:29,11:NM_017940.3(NBPF1) c.279-269C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16916358 rs3981774 G C 154 nt VT=SNV;PN=A;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.6264,C/0.3736,T/.;Gene=NBPF1/NM_017940.4/1;CC=c.278+36C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:54:41:0:0:44,10:1446,343:154.30,0.00:96.54,0.00:57.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,51:37.9,20.3:0,0:0,0:45,67:105,77:29,24:NM_017940.3(NBPF1) c.278+36C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16916514 rs200002040 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.018;Gene=NBPF1/NM_017940.4/1;CC=c.176-18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:38:18:0:0:31,7:886,235:0.00,18.97:0.00,5.24:0.00,13.73:0.00,0.94:0.00,0.94:0.00,0.99:56,53:11.9,55.1:0,0:0,0:113,101:37,49:13,12:-,NM_017940.3(NBPF1) c.176-18G>A:-,NOT_FOUND:-,NOT_FOUND 1 16916569 rs1855754 A G 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=2763;PC=0.030;Gene=NBPF1/NM_017940.4/1;CC=c.176-73T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:0:0:0:19,8:582,271:0.00,23.80:0.00,0.00:0.00,23.80:0.00,0.98:0.00,0.00:0.00,0.98:60,49:39.8,70.1:0,0:0,0:113,65:37,84:18,19:-,NM_017940.3(NBPF1) c.176-73T>C:-,NOT_FOUND:-,NOT_FOUND 1 16916603 rs11583443 C A 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.2276,A/0.7724;Gene=NBPF1/NM_017940.4/1;CC=c.176-107G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:0:0:0:20:654:74.91:0.00:74.91:1.00:0.00:1.00:60:64.0:0:0:101:48:29:NM_017940.3(NBPF1) c.176-107G>T,NM_017940.3(NBPF1) c.176-107G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16916702 rs4112521 T C 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2769;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.176-206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:0:0:0:2,2:66,66:6.35,0.00:0.00,0.00:6.35,0.00:0.51,0.00:0.00,0.00:0.51,0.00:53,60:113.0,34.0:0,0:0,0:77,113:73,38:5,4:NM_017940.3(NBPF1) c.176-206A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16918123 . A C 7 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;NP=19;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.175+219T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,C:32:32:0:0:29,3:839,95:0.00,6.61:0.00,6.61:0.00,0.00:0.00,0.41:0.00,0.41:0.00,0.00:60,40:42.7,89.7:0,0:0,0:57,2:92,147:24,2:-,NM_017940.3(NBPF1) c.175+219T>G:-,NOT_FOUND:-,NOT_FOUND 1 16918255 rs199671438 A C 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=192;DB;DBA=NA;PAF=NA;NP=3294;Gene=NBPF1/NM_017940.4/1;CC=c.175+87T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:192:188:0:0:167,24,1:5133,781,10:0.00,58.27,-0.31:0.00,54.03,-0.30:0.00,4.23,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.72,0.00:51,43,30:14.4,42.7,205.0:0,0,0:0,0,0:44,49,49:106,102,102:30,27,0:-,NM_017940.3(NBPF1) c.175+87T>G:-,NOT_FOUND:-,NOT_FOUND 1 16918424 rs9730077 G C 148 nt VT=SNV;PN=T;NN=T;SST=Single;DP=622;DB;DBA=NA;PAF=NA;Gene=NBPF1/NM_017940.4/1;CC=c.93C>G;ProtCh=p.N31K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:622:443:0:0:1,60,560,1:8,2046,18579,11:-0.47,147.70,0.00,-0.46:-0.25,88.76,0.00,-0.24:-0.22,58.95,0.00,-0.22:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:43,55,60,52:172.0,129.4,21.5,198.0:0,0,0,0:0,0,0,0:115,78,79,150:36,71,67,1:0,26,33,0:NM_017940.3(NBPF1) c.93C>G (p.Asn31Lys),-:NOT_FOUND,-:0.040141,- 1 16918454 rs9730079 G A 126 nt VT=SNV;PN=C;NN=T;SST=Single;DP=622;DB;DBA=NA;PAF=NA;NP=5;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.63C>T;ProtCh=p.N21=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:622:403:0:0:55,565,2:1801,17883,45:125.78,0.00,0.51:72.73,0.00,0.83:53.05,0.00,-0.31:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,60,60:146.6,30.7,142.0:0,0,0:0,0,0:96,71,71:55,79,79:27,39,62:NM_017940.3(NBPF1) c.63C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 16918457 rs9730080 G C 130 nt VT=SNV;PN=T;NN=A;SST=Single;DP=618;DB;DBA=NA;PAF=NA;PC=0.026;Gene=NBPF1/NM_017940.4/1;CC=c.60C>G;ProtCh=p.I20M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:618:393:0:0:55,562,1:1843,18715,11:130.15,0.00,-0.46:74.33,0.00,-0.20:55.82,0.00,-0.26:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,60,60:147.9,28.9,40.0:0,0,0:0,0,0:93,83,139:58,67,12:33,38,0:NM_017940.3(NBPF1) c.60C>G (p.Ile20Met),-:NOT_FOUND,-:NOT_FOUND,- 1 16918465 rs3897296 A G 267 nt VT=SNV;PN=A;NN=A;SST=Single;DP=622;DB;DBA=NA;PAF=NA;NP=1232;Gene=NBPF1/NM_017940.4/1;CC=c.52T>C;ProtCh=p.L18=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:622:394:0:0:521,98,3:16481,3380,27:0.00,267.38,-1.00:0.00,94.98,-0.46:0.00,172.41,-0.55:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,54,60:27.7,119.0,58.7:0,0,0:0,0,0:68,107,126:82,41,21:40,27,15:-,NM_017940.3(NBPF1) c.52T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 16918498 rs11583018 G A 165 nt VT=SNV;PN=G;NN=G;SST=Single;DP=582;DB;DBA=NA;PAF=G/0.507,A/0.493;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.19C>T;ProtCh=p.P7S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:582:335:0:0:69,2,508,3:2238,12,15902,50:165.20,-0.64,0.00,0.29:56.59,-0.29,0.00,0.92:108.60,-0.36,0.00,-0.63:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:65.6,76.5,45.5,56.3:0,0,0,0:0,0,0,0:70,51,77,95:80,82,71,56:26,17,35,2:NM_017940.3(NBPF1) c.19C>T (p.Pro7Ser),-:NOT_FOUND,-:0.024242,- 1 16918502 rs3925698 A G 1443 nt VT=SNV;PN=C;NN=G;SST=Single;DP=574;DB;DBA=NA;PAF=A/0.507,G/0.493;Gene=NBPF1/NM_017940.4/1;CC=c.15T>C;ProtCh=p.A5=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:574:330:0:0:129,1,442,2:4293,6,13659,33:0.00,-0.11,1443.15,0.15:0.00,-0.05,591.04,0.02:0.00,-0.06,852.11,0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,40,60,60:7.2,147.0,60.9,160.5:0,0,0,0:0,0,0,0:73,25,70,98:71,124,78,51:29,0,32,41:-,NM_017940.3(NBPF1) c.=:-,NOT_FOUND:-,NOT_FOUND 1 16918611 rs4141869 A C 832 nt VT=SNV;PN=T;NN=A;SST=Single;DP=413;DB;DBA=NA;PAF=NA;NP=3392;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.-36+43T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:413:217:0:0:160,250,3:4882,8321,44:0.00,832.34,0.19:0.00,320.78,0.32:0.00,511.56,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,50,40:19.8,63.7,123.0:0,0,0:0,0,0:69,81,61:80,69,90:42,44,22:-,NM_017940.3(NBPF1) c.-36+43T>G:-,NOT_FOUND:-,NOT_FOUND 1 16918717 . C T 623 nt VT=SNV;PN=T;NN=G;SST=Single;DP=417;Gene=NBPF1/NM_017940.4/1;CC=c.-99G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:417:259:0:0:215,202:6820,6520:0.00,622.99:0.00,295.15:0.00,327.84:0.00,1.00:0.00,1.00:0.00,1.00:60,59:10.5,77.9:0,0:0,0:81,71:64,75:34,38:-,NM_017940.3(NBPF1) c.-99G>A:-,NOT_FOUND:-,NOT_FOUND 1 16918734 rs3928093 G C 646 nt VT=SNV;PN=A;NN=A;SST=Single;DP=409;DB;DBA=NA;PAF=NA;PC=0.006;Gene=NBPF1/NM_017940.4/1;CC=c.-116C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:409:259:0:0:199,210:6746,7024:646.50,0.00:324.61,0.00:321.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:74.0,9.5:0,0:0,0:79,82:71,68:40,38:NM_017940.3(NBPF1) c.-116C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16918888 rs3863785 C G 340 nt VT=SNV;PN=T;NN=C;SST=Single;DP=227;DB;DBA=NA;PAF=NA;NP=250;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.-190-80G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:227:59:0:0:1,117,109:9,3673,3562:-0.17,0.00,340.21:-0.04,0.00,43.90:-0.13,0.00,296.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,56,49:170.0,12.0,45.9:0,0,0:0,0,0:103,105,102:46,45,47:0,24,37:-,NM_017940.3(NBPF1) c.-190-80G>C:-,NOT_FOUND:-,NOT_FOUND 1 16918895 rs3962486 C T 48 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=220;DB;DBA=NA;PAF=NA;PC=0.019;Gene=NBPF1/NM_017940.4/1;CC=c.-190-87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:220:51:0:0:197,23:6503,688:0.00,47.95:0.00,1.91:0.00,46.04:0.00,1.00:0.00,0.98:0.00,1.00:56,50:25.1,71.2:0,0:0,0:98,106:50,40:33,23:-,NM_017940.3(NBPF1) c.-190-87G>A:-,NOT_FOUND:-,NOT_FOUND 1 16918973 rs3851916 C A 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.-190-165G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,C,G:109:4:0:0:15,93,1:405,2822,5:28.91,0.00,-0.34:1.44,0.00,0.02:27.47,0.00,-0.36:1.00,0.00,0.00:0.45,0.00,0.00:1.00,0.00,0.00:56,56,52:35.3,35.5,54.0:0,0,0:0,0,0:103,107,53:47,44,90:14,25,0:NM_017940.3(NBPF1) c.-190-165G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16918982 rs1759154 T C 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=65;Gene=NBPF1/NM_017940.4/1;CC=c.-190-174A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:101:5:0:0:25,1,75:734,11,2367:60.93,-0.20,0.00:4.51,-0.01,0.00:56.42,-0.19,0.00:1.00,0.00,0.00:0.75,0.00,0.00:1.00,0.00,0.00:40,22,56:44.2,173.0,31.8:0,0,0:0,0,0:115,101,108:36,34,43:21,0,24:NM_017940.3(NBPF1) c.-190-174A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16919152 rs1759155 C T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.009;Gene=NBPF1/NM_017940.4/1;CC=c.-190-344G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:1:0:0:6,11:201,307:0.00,31.08:0.00,1.94:0.00,29.13:0.00,1.00:0.00,0.76:0.00,1.00:60,55:19.5,48.5:0,0:0,0:67,116:83,34:12,10:-,NM_017940.3(NBPF1) c.-190-344G>A:-,NOT_FOUND:-,NOT_FOUND 1 16919639 rs2761481 C T 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.-191+297G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:29:29:0:0:10,1,18:334,10,538:0.00,0.12,54.44:0.00,0.12,54.44:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,18,60:42.2,20.0,68.4:0,0,0:0,0,0:30,122,47:121,16,103:21,0,24:-,NM_017940.3(NBPF1) c.-191+297G>A:-,NOT_FOUND:-,NOT_FOUND 1 16919665 rs1759158 T C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=5;Gene=NBPF1/NM_017940.4/1;CC=c.-191+271A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:39:39:0:0:5,34:159,1019:11.81,0.00:11.81,0.00:0.00,0.00:0.77,0.00:0.77,0.00:0.00,0.00:60,60:77.2,50.1:0,0:0,0:28,48:121,101:28,26:NM_017940.3(NBPF1) c.-191+271A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16919676 rs1765574 G C 115 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.-191+260C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:45:45:0:0:33,12:1107,386:115.13,0.00:115.13,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:60.5,21.9:0,0:0,0:58,19:91,131:28,11:NM_017940.3(NBPF1) c.-191+260C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16919855 rs56127736 A AT 373 nt VT=INS;SST=Single;DP=236;DB;DBA=NA;PAF=A/0.8135,AT/0.1865;NP=345;Gene=NBPF1/NM_017940.4/1;CC=c.-191+80_-191+81insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AT:236:211:128:0:107,1,128:3488,12,3832:0.00,-0.12,373.49:0.00,-0.15,272.64:0.00,0.03,100.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,61:5.4,25.0,7.8:0,0,0:0,0,0:54,36,60:92,114,90:35,0,29:-,NM_017940.3(NBPF1) c.-191+80_-191+81insA:-,NOT_FOUND:-,NOT_FOUND 1 16920002 rs3851917 G C 709 nt VT=SNV;PN=G;NN=A;SST=Single;DP=384;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.-257C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:384:225:0:0:1,214,167,2:8,7206,5350,32:-0.20,709.22,0.00,0.42:-0.09,364.39,0.00,0.61:-0.11,344.83,0.00,-0.19:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:46,60,60,60:97.0,41.2,10.3,128.5:0,0,0,0:0,0,0,0:77,83,82,41:39,66,63,95:0,35,35,40:NM_017940.3(NBPF1) c.-257C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16920093 rs3851918 C T 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=308;DB;DBA=NA;PAF=NA;NP=12;Gene=NBPF1/NM_017940.4/1;CC=c.-317-31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:308:165:0:0:277,31:8440,968:0.00,68.09:0.00,35.04:0.00,33.05:0.00,1.00:0.00,1.00:0.00,1.00:60,56:20.7,49.9:0,0:0,0:87,82:61,69:33,37:-,NM_017940.3(NBPF1) c.-317-31G>A:-,NOT_FOUND:-,NOT_FOUND 1 16920126 rs3863786 G A 60 nt VT=SNV;PN=G;NN=A;SST=Single;DP=300;DB;DBA=NA;PAF=NA;NP=196;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.-317-64C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,G:300:169:0:0:30,270:881,8719:60.43,0.00:33.44,0.00:26.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,13.4:0,0:0,0:99,75:44,74:32,40:NM_017940.3(NBPF1) c.-317-64C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16920380 rs1759159 T A 98 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.5839,A/0.4161;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.-317-318A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:52:3:0:0:30,22:987,688:97.62,0.00:3.26,0.00:94.36,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:88.6,50.4:0,0:0,0:104,126:45,20:35,17:NM_017940.3(NBPF1) c.-317-318A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16920382 rs849607 T C 175 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.08546,C/0.9145;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.-317-320A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:C:48:3:0:0:48:1527:175.40:7.95:167.44:1.00:1.00:1.00:60:76.3:0:0:112:36:30:NM_017940.3(NBPF1) c.-317-320A>G,NM_017940.3(NBPF1) c.-317-320A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16920428 rs384792 G A 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.-317-366C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,G:23:0:0:0:18,5:548,167:58.11,0.00:0.00,0.00:58.11,0.00:1.00,0.00:0.00,0.00:1.00,0.00:51,60:101.1,41.2:0,0:0,0:94,106:52,45:20,29:NM_017940.3(NBPF1) c.-317-366C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16920471 rs55869952 G A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.-317-409C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:9,7:264,228:25.90,0.00:0.00,0.00:25.90,0.00:1.00,0.00:0.00,0.00:1.00,0.00:53,60:99.7,73.6:0,0:0,0:118,126:32,24:21,3:NM_017940.3(NBPF1) c.-317-409C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16920497 rs56383369 C CATT 21 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6226,CA/0.01278,CAT/0.3646,CATTT/.,CT/.;NP=2;NP=3;NP=3;PC=0.034;Gene=NBPF1/NM_017940.4/1;CC=c.-317-436_-317-435insAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,CATT:8:0:7:0:2,6:64,227:0.00,20.55:0.00,0.00:0.00,20.55:0.00,0.99:0.00,0.00:0.00,0.99:55,53:33.5,91.7:0,1:0,0:110,64:41,86:24,44:-,NM_017940.3(NBPF1) c.-317-436_-317-435insAAT:-,NOT_FOUND:-,NOT_FOUND 1 16920579 rs55926614 C G 14 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5026,G/0.4974;PC=0.035;Gene=NBPF1/NM_017940.4/1;CC=c.-318+508G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,G:5:1:0:0:1,4:28,136:0.00,14.42:0.00,-0.70:0.00,15.12:0.00,0.96:0.00,0.87:0.00,1.00:42,53:0.0,63.5:0,0:0,0:17,147:133,3:0,2:-,NM_017940.3(NBPF1) c.-318+508G>C:-,NOT_FOUND:-,NOT_FOUND 1 16921039 . C T 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=131;NP=3;Gene=NBPF1/NM_017940.4/1;CC=c.-318+48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:131:125:0:0:1,109,21:10,3625,631:-0.30,0.00,48.20:-0.23,0.00,32.36:-0.06,0.00,15.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:58,60,60:252.0,21.7,34.0:0,0,0:0,0,0:108,49,27:42,97,114:0,34,21:-,NM_017940.3(NBPF1) c.-318+48G>A:-,NOT_FOUND:-,NOT_FOUND 1 16921047 . G A 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=135;NP=30;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.-318+40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,G:135:127:0:0:14,121:449,3564:32.16,0.00:22.80,0.00:9.36,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:45.6,23.8:0,0:0,0:43,37:105,106:18,24:NM_017940.3(NBPF1) c.-318+40C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16921146 rs1759165 T C 139 nt VT=SNV;PN=T;NN=C;SST=Single;DP=165;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.-377A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:165:103:0:0:50,115:1587,3664:138.61,0.00:64.85,0.00:73.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,13.4:0,0:0,0:101,88:47,59:28,31:NM_017940.3(NBPF1) c.-377A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16925994 rs79635372 C A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=73;Gene=NBPF1/NM_017940.4/1;CC=c.-466-4490G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C,T:14:10:0:0:4,9,1:110,248,10:9.42,0.00,0.17:9.10,0.00,-0.17:0.31,0.00,0.34:0.77,0.00,0.00:0.94,0.00,0.00:0.39,0.00,0.00:60,68,51:107.5,9.0,136.0:3,0,0:0,0,0:13,62,79:137,70,71:4,26,0:NM_017940.3(NBPF1) c.-466-4490G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16926003 rs56067303 T C,TATACACACAC 19 idl,nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5056,C/0.4944;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:67:C,T,TATACACACAC,D:14:10:6:1:4,3,6,1:137,74,193,11:13.01,0.00,19.25,0.44:9.78,0.00,12.72,-0.05:3.23,0.00,6.53,0.49:0.00,0.00,0.96,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.69,0.00:60,60,68,51:107.5,14.0,6.5,136.0:0,0,0,1:0,0,0,0:22,54,79,90:128,30,61,60:4,9,26,0:NM_017940.3(NBPF1) c.-466-4499A>G,NM_017940.3(NBPF1) c.-466-4500_-466-4499insGTGTGTGTAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16931073 rs4661853 G A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6831,A/0.3169;PC=0.010;Gene=NBPF1/NM_017940.4/1;CC=c.-467+3930C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:24:24:0:0:4,20:126,615:9.82,0.00:9.82,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:31.5,5.5:0,0:0,0:24,24:126,125:21,20:NM_017940.3(NBPF1) c.-467+3930C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16931160 rs4596945 G C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.8083,C/0.1917;NP=59;PC=0.569;Gene=NBPF1/NM_017940.4/1;CC=c.-467+3843C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,G:44:44:0:0:5,39:144,1286:10.05,0.00:10.05,0.00:0.00,0.00:0.75,0.00:0.75,0.00:0.00,0.00:60,60:32.2,10.3:0,0:0,0:37,82:114,69:30,34:NM_017940.3(NBPF1) c.-467+3843C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16931257 rs436293 C T 77 nt VT=SNV;PN=T;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=85;PC=0.055;Gene=NBPF1/NM_017940.4/1;CC=c.-467+3746G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:90:73:0:0:60,30:2014,876:0.00,76.97:0.00,40.26:0.00,36.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.1,44.7:0,0:0,0:44,55:102,92:24,22:-,NM_017940.3(NBPF1) c.-467+3746G>A:-,NOT_FOUND:-,NOT_FOUND 1 16931355 rs381429 T A 114 nt VT=SNV;PN=C;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.5984,A/0.4016;PC=0.007;Gene=NBPF1/NM_017940.4/1;CC=c.-467+3648A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:94:46:0:0:38,56:1235,1802:114.11,0.00:43.87,0.00:70.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,20.0:0,0:0,0:87,108:61,31:28,24:NM_017940.3(NBPF1) c.-467+3648A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16931391 . T C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;NP=3;PC=0.044;Gene=NBPF1/NM_017940.4/1;CC=c.-467+3612A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:23:0:0:10,55:355,1776:28.16,0.00:8.72,0.00:19.43,0.00:0.99,0.00:0.94,0.00:1.00,0.00:60,60:42.1,29.6:0,0:0,0:114,108:36,36:26,25:NM_017940.3(NBPF1) c.-467+3612A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16931490 rs849621 C A 90 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.007;Gene=NBPF1/NM_017940.4/1;CC=c.-467+3513G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:1:0:0:26:775:89.86:1.99:87.87:1.00:1.00:1.00:60:45.4:0:0:96:48:26:NM_017940.3(NBPF1) c.-467+3513G>T,NM_017940.3(NBPF1) c.-467+3513G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16931554 rs371797 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=233;PC=0.017;Gene=NBPF1/NM_017940.4/1;CC=c.-467+3449A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:C,T:13:0:0:0:9,4:310,127:31.81,0.00:0.00,0.00:31.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:65.0,33.0:0,0:0,0:69,72:81,78:20,18:NM_017940.3(NBPF1) c.-467+3449A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16934663 rs849711 C T 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.-467+340G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:217:25.04:25.04:0.00:1.00:1.00:0.00:54:45.7:0:0:46:105:44:NM_017940.3(NBPF1) c.-467+340G>A,NM_017940.3(NBPF1) c.-467+340G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16934704 rs11260826 T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=333;PC=0.010;Gene=NBPF1/NM_017940.4/1;CC=c.-467+299A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:G,T:17:17:0:0:4,13:125,301:10.40,0.00:10.46,0.00:-0.06,0.00:0.74,0.00:0.74,0.00:0.49,0.00:60,60:109.5,49.6:0,0:0,0:15,40:136,111:14,30:NM_017940.3(NBPF1) c.-467+299A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16934807 rs61527589 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8674,T/0.1326;NP=83;PC=0.002;Gene=NBPF1/NM_017940.4/1;CC=c.-467+196G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,C,T:29:28:0:0:1,23,5:10,678,164:-0.07,0.00,13.09:-0.05,0.00,13.21:-0.02,0.00,-0.12:0.00,0.00,0.80:0.00,0.00,0.98:0.00,0.00,0.43:60,60,60:211.0,43.1,48.8:0,0,0:0,0,0:103,76,34:48,75,117:0,57,31:-,NM_017940.3(NBPF1) c.-467+196G>A:-,NOT_FOUND:-,NOT_FOUND 1 16934904 rs3851920 C T 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.776,T/0.224;NP=1009;Gene=NBPF1/NM_017940.4/1;CC=c.-467+99G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:77:75:0:0:66,11:2191,342:0.00,25.75:0.00,19.81:0.00,5.94:0.00,0.99:0.00,1.00:0.00,0.69:60,60:36.6,72.1:0,0:0,0:46,27:104,124:29,16:-,NM_017940.3(NBPF1) c.-467+99G>A:-,NOT_FOUND:-,NOT_FOUND 1 16934905 rs849710 A G 252 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.1008,G/0.8992;NP=3466;Gene=NBPF1/NM_017940.4/1;CC=c.-467+98T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:77:75:0:0:1,76:11,2186:0.00,252.39:0.00,230.60:0.00,21.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,42.0:0,0:0,0:21,42:130,108:0,24:NM_017940.3(NBPF1) c.-467+98T>C,NM_017940.3(NBPF1) c.-467+98T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16935283 rs1762922 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF1/NM_017940.4/1;CC=c.-738-9A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:33:0:0:0:1,11,21:10,353,654:-0.03,31.60,0.00:0.00,0.00,0.00:-0.03,31.60,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:51,60,60:43.0,38.9,17.8:0,0,0:0,0,0:25,122,115:126,29,35:0,21,18:NM_017940.3(NBPF1) c.-738-9A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16935384 rs849709 A G 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1046,G/0.8954;PC=0.001;Gene=NBPF1/NM_017940.4/1;CC=c.-738-110T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:208:24.96:0.00:24.96:1.00:0.00:1.00:52:77.2:0:0:85:66:41:NM_017940.3(NBPF1) c.-738-110T>C,NM_017940.3(NBPF1) c.-738-110T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16945181 rs71803374 AAAT A 7 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=AAAT/0.8173,A/0.1827;DB;DBA=NA;PAF=AAAT/0.8173,A/0.1827;NP=5;PC=0.070;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:AAAT,A:13:13:0:4:10,3:285,91:0.00,7.49:0.00,7.49:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,60:17.2,34.0:0,0:0,0:33,37:118,113:8,18:-,NR_026752.1(CROCCP2) n.1329ATT[1]:-,NOT_FOUND:-,NOT_FOUND 1 16945227 rs9728628 G T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.005;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:G,T:18:18:0:0:12,6:392,161:0.00,13.97:0.00,13.97:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:27.2,46.0:0,0:0,0:73,71:77,78:12,42:-,NR_026752.1(CROCCP2) n.1289C>A:-,NOT_FOUND:-,NOT_FOUND 1 16945452 rs11260834 C T 94 nt VT=SNV;PN=A;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:198:177:0:0:162,36:5352,1175:0.00,93.95:0.00,57.13:0.00,36.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,47.5:0,0:0,0:45,43:99,101:26,21:-,NR_026752.1(CROCCP2) n.1064G>A:-,NOT_FOUND:-,NOT_FOUND 1 16945570 rs28552760 A G 80 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=312;DB;DBA=NA;PAF=NA;NP=209;PC=0.995;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:312:206:0:0:279,33:8927,1096:0.00,79.65:0.00,-0.22:0.00,79.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,58.7:0,0:0,0:65,75:78,76:35,47:-,NR_026752.1(CROCCP2) n.946T>C:-,NOT_FOUND:-,NOT_FOUND 1 16945738 rs150540867 A G 89 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=2278;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:0:0:0:34,29:1014,939:0.00,88.88:0.00,0.00:0.00,88.88:0.00,1.00:0.00,0.00:0.00,1.00:40,40:25.4,58.7:0,0:0,0:101,106:49,45:36,33:-,NR_026752.1(CROCCP2) n.918-140T>C:-,NOT_FOUND:-,NOT_FOUND 1 16945780 rs139443204 C T 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=2095;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:37:0:0:0:8,29:170,927:0.00,98.54:0.00,0.00:0.00,98.54:0.00,1.00:0.00,0.00:0.00,1.00:40,40:27.6,59.8:0,0:0,0:106,115:44,13:22,20:-,NR_026752.1(CROCCP2) n.918-182G>A:-,NOT_FOUND:-,NOT_FOUND 1 16946090 rs200611073 T C,G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:C,G:4:3:0:0:3,1:99,11:10.96,0.98:7.40,0.98:3.55,0.00:0.85,0.00:0.99,0.00:0.83,0.00:40,40:69.7,44.0:0,0:0,0:31,16:119,135:10,0:NR_026752.1(CROCCP2) n.917+250A>G,NR_026752.1(CROCCP2) n.917+250A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16946164 rs59600364 A G 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=33;PC=0.003;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:19:0:0:9,11:263,332:0.00,32.48:0.00,29.07:0.00,3.42:0.00,1.00:0.00,1.00:0.00,0.70:40,40:50.1,57.1:0,0:0,0:25,54:125,97:19,39:-,NR_026752.1(CROCCP2) n.917+176T>C:-,NOT_FOUND:-,NOT_FOUND 1 16946266 rs11586781 G C 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=34;PC=0.007;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:50:49:0:0:14,36:483,1171:42.11,0.00:42.25,0.00:-0.14,0.00:1.00,0.00:1.00,0.00:0.52,0.00:60,60:50.8,34.4:0,0:0,0:80,42:71,109:40,26:NR_026752.1(CROCCP2) n.917+74C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16946282 rs11260835 C T 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=40;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:57:0:0:46,12:1458,387:0.00,31.60:0.00,30.80:0.00,0.80:0.00,1.00:0.00,1.00:0.00,0.61:60,60:30.7,50.2:0,0:0,0:50,53:101,97:36,24:-,NR_026752.1(CROCCP2) n.917+58G>A:-,NOT_FOUND:-,NOT_FOUND 1 16946336 rs11586784 G A 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=132;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,G,T:104:95:0:0:10,93,1:317,2840,17:22.32,0.00,-0.01:11.26,0.00,-0.33:11.06,0.00,0.32:0.98,0.00,0.00:1.00,0.00,0.00:0.92,0.00,0.00:60,60,60:74.0,31.6,58.0:0,0,0:0,0,0:41,45,51:105,104,99:12,26,0:NR_026752.1(CROCCP2) n.917+4C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16946396 rs367013 C T 64 nt VT=SNV;PN=G;NN=A;SST=Single;DP=138;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:138:111:0:0:111,1,26:3754,11,800:0.00,-0.25,63.55:0.00,-0.11,35.78:0.00,-0.13,27.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:35.7,24.0,66.6:0,0,0:0,0,0:75,127,46:75,24,105:32,0,31:-,NR_026752.1(CROCCP2) n.861G>A:-,NOT_FOUND:-,NOT_FOUND 1 16946407 rs10796418 T G 173 nt VT=SNV;PN=C;NN=C;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=625;PC=1.000;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:150:118:0:0:61,89:1884,2968:173.26,0.00:94.89,0.00:78.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.3,25.6:0,0:0,0:48,77:100,72:32,39:NR_026752.1(CROCCP2) n.850A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16946434 rs367060 C T 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.9495,T/0.05052;NP=614;PC=0.939;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:159:104:0:0:129,30:3902,1015:0.00,82.42:0.00,40.29:0.00,42.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.9,73.5:0,0:0,0:80,67:71,83:39,35:-,NR_026752.1(CROCCP2) n.823G>A:-,NOT_FOUND:-,NOT_FOUND 1 16946438 rs28392876 G A 124 nt VT=SNV;PN=C;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=G/0.9149,A/.,C/0.08506;NP=120;NP=733;PC=0.175;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:158:103:0:0:43,20,95:1411,608,2931:124.21,46.84,0.00:62.33,21.65,0.00:61.88,25.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:73.7,76.0,33.7:0,0,0:0,0,0:54,88,57:94,60,92:25,32,30:NR_026752.1(CROCCP2) n.819C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16946535 rs437905 T C 283 nt VT=SNV;PN=C;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:139:64:0:0:95,44:2760,1414:283.33,0.00:78.63,0.00:204.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.0,21.4:0,0:0,0:101,89:43,41:26,19:NR_026752.1(CROCCP2) n.724-2A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16946562 rs1762938 C A 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=NA;PC=0.005;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C:99:38:0:0:10,89:326,2852:23.31,0.00:10.58,0.00:12.73,0.00:0.98,0.00:0.94,0.00:1.00,0.00:60,60:65.6,36.8:0,0:0,0:82,109:67,40:20,20:NR_026752.1(CROCCP2) n.724-29G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16946630 rs583343 G A 109 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:1:0:0:31,13:1057,387:108.90,0.00:3.62,0.00:105.27,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:83.8,13.2:0,0:0,0:108,90:41,61:22,39:NR_026752.1(CROCCP2) n.724-97C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16946723 rs375097 G A 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.495,A/0.505;NP=97;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,C,G:18:1:0:0:14,1,3:464,10,97:49.58,0.32,0.00:1.98,0.00,0.00:47.59,0.32,0.00:1.00,0.00,0.00:0.85,0.00,0.00:1.00,0.00,0.00:60,47,55:108.9,186.0,2.3:0,0,0:0,0,0:96,101,115:54,36,36:45,0,2:NR_026752.1(CROCCP2) n.724-190C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16946740 rs399721 C T 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.501,T/0.499;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:C,T:13:1:0:0:2,11:66,313:0.00,34.03:0.00,2.00:0.00,32.03:0.00,1.00:0.00,0.90:0.00,1.00:55,60:3.5,130.7:0,0:0,0:131,112:20,39:1,23:-,NR_026752.1(CROCCP2) n.724-207G>A:-,NOT_FOUND:-,NOT_FOUND 1 16946749 rs425424 A G 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3664,G/0.6336;PC=0.004;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:A,G:13:0:0:0:2,11:69,309:0.00,33.66:0.00,0.00:0.00,33.66:0.00,1.00:0.00,0.00:0.00,1.00:55,60:3.5,133.9:0,0:0,0:140,98:11,53:1,32:-,NR_026752.1(CROCCP2) n.724-216T>C:-,NOT_FOUND:-,NOT_FOUND 1 16946752 rs201265716 C G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=39;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,G:13:0:0:0:9,4:264,138:0.00,12.24:0.00,0.00:0.00,12.24:0.00,0.79:0.00,0.00:0.00,0.79:58,60:95.1,156.0:0,0:0,0:124,90:27,60:20,39:-,NR_026752.1(CROCCP2) n.724-219G>C:-,NOT_FOUND:-,NOT_FOUND 1 16948178 rs395200 G A 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:15:15:0:0:12,3:343,81:36.74,0.00:36.74,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:89.2,13.3:0,0:0,0:57,52:93,98:31,5:NR_026752.1(CROCCP2) n.724-1645C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16948189 rs444410 A G 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:17:17:0:0:4,13:108,393:0.00,41.46:0.00,39.58:0.00,1.88:0.00,1.00:0.00,1.00:0.00,0.84:60,60:11.8,87.4:0,0:0,0:45,57:105,94:20,41:-,NR_026752.1(CROCCP2) n.724-1656T>C:-,NOT_FOUND:-,NOT_FOUND 1 16948260 rs10458615 T A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=10;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,T:36:35:0:0:4,32:133,863:9.76,0.00:9.81,0.00:-0.05,0.00:0.95,0.00:0.94,0.00:0.41,0.00:60,60:58.0,31.8:0,0:0,0:63,43:87,106:13,24:NR_026752.1(CROCCP2) n.724-1727A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16948473 rs446948 C T 161 nt VT=SNV;PN=T;NN=C;SST=Single;DP=281;DB;DBA=NA;PAF=C/0.6168,T/0.3832;PC=0.918;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:281:226:0:0:221,60:7094,1952:0.00,160.62:0.00,102.56:0.00,58.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,68.8:0,0:0,0:67,75:77,75:36,31:-,NR_026752.1(CROCCP2) n.724-1940G>A:-,NOT_FOUND:-,NOT_FOUND 1 16948474 rs2781579 C G 900 nt VT=SNV;PN=C;NN=T;SST=Single;DP=285;DB;DBA=NA;PAF=C/0.2538,G/0.7462;PC=0.204;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,G:285:231:0:0:23,262:728,8107:0.00,900.02:0.00,583.34:0.00,316.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.1,44.8:0,0:0,0:90,58:61,89:48,35:-,NR_026752.1(CROCCP2) n.724-1941G>C:-,NOT_FOUND:-,NOT_FOUND 1 16948509 rs11260842 C T 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=316;DB;DBA=NA;PAF=NA;NP=491;PC=1.000;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,C,G,T:316:230:0:0:1,288,1,26:19,9436,9,794:-0.14,0.00,-0.35,52.94:0.03,0.00,-0.18,30.14:-0.17,0.00,-0.17,22.80:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:58,60,57,60:59.0,36.7,53.0,33.7:0,0,0,0:0,0,0,0:102,75,70,49:47,76,81,102:0,39,0,30:-,NR_026752.1(CROCCP2) n.724-1976G>A:-,NOT_FOUND:-,NOT_FOUND 1 16948722 rs390951 C T 303 nt VT=SNV;PN=G;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:123:20:0:0:31,92:912,2896:0.00,303.31:0.00,22.50:0.00,280.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,44.5:0,0:0,0:118,102:30,48:17,30:-,NR_026752.1(CROCCP2) n.724-2189G>A:-,NOT_FOUND:-,NOT_FOUND 1 16949917 rs436612 T C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:4:0:0:3,1:101,33:10.55,0.00:10.55,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:59,57:59.3,0.0:0,0:0,0:93,53:57,98:1,0:NR_026752.1(CROCCP2) n.723+2353A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16949958 rs4661867 C G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=10;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,G:6:6:0:0:3,3:104,99:0.00,9.52:0.00,9.52:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:26.3,59.3:0,0:0,0:32,102:119,47:23,33:-,NR_026752.1(CROCCP2) n.723+2312G>C:-,NOT_FOUND:-,NOT_FOUND 1 16950164 rs4920631 C A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=47;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:A,C,G:55:55:0:0:8,46,1:249,1492,10:18.88,0.00,-0.20:18.88,0.00,-0.20:0.00,0.00,0.00:0.96,0.00,0.00:0.96,0.00,0.00:0.00,0.00,0.00:60,60,40:59.4,19.9,184.0:0,0,0:0,0,0:51,63,48:98,87,84:35,50,0:NR_026752.1(CROCCP2) n.723+2106G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16950261 rs11260845 G C 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=NA;NP=240;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:135:130:0:0:1,16,118:11,519,3890:-0.27,38.30,0.00:-0.23,34.37,0.00:-0.03,3.93,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.84,0.00:60,60,60:197.0,48.1,11.4:0,0,0:0,0,0:19,36,39:130,114,110:0,27,29:NR_026752.1(CROCCP2) n.723+2009C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16950346 rs9663015 A C 110 nt VT=SNV;PN=A;NN=G;SST=Single;DP=332;DB;DBA=NA;PAF=A/0.8413,C/0.1587;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:332:280:0:0:284,45,3:9116,1453,61:0.00,109.91,1.01:0.00,82.64,0.57:0.00,27.27,0.44:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.7,38.4,136.3:0,0,0:0,0,0:47,57,62:98,92,71:27,26,18:-,NR_026752.1(CROCCP2) n.723+1924T>G:-,NOT_FOUND:-,NOT_FOUND 1 16950449 rs11260846 A G 112 nt VT=SNV;PN=C;NN=T;SST=Single;DP=378;DB;DBA=NA;PAF=NA;PC=0.999;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:378:222:0:0:331,47:10490,1510:0.00,111.91:0.00,40.61:0.00,71.30:0.00,1.00:0.00,1.00:0.00,1.00:60,45:26.5,41.3:0,0:0,0:92,56:57,90:30,35:-,NR_026752.1(CROCCP2) n.723+1821T>C:-,NOT_FOUND:-,NOT_FOUND 1 16950470 rs12144467 C T 166 nt VT=SNV;PN=C;NN=C;SST=Single;DP=364;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:364:195:0:0:297,67:9053,2089:0.00,165.56:0.00,78.10:0.00,87.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.4,42.2:0,0:0,0:97,101:52,49:33,27:-,NR_026752.1(CROCCP2) n.723+1800G>A:-,NOT_FOUND:-,NOT_FOUND 1 16950509 rs74650164 G C 225 nt VT=SNV;PN=T;NN=C;SST=Single;DP=276;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:276:114:0:0:81,194,1:2589,6554,11:225.16,0.00,-0.28:103.28,0.00,-0.04:121.89,0.00,-0.24:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:54,60,49:71.3,21.1,148.0:0,0,0:0,0,0:97,93,142:54,50,9:34,36,0:NR_026752.1(CROCCP2) n.723+1761C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16950511 rs78239437 G C 218 nt VT=SNV;PN=C;NN=T;SST=Single;DP=272;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:272:112:0:0:1,78,193:8,2512,6103:-0.31,217.83,0.00:-0.09,88.87,0.00:-0.22,128.96,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,52,60:116.0,73.4,22.0:0,0,0:0,0,0:80,88,92:60,63,52:0,35,35:NR_026752.1(CROCCP2) n.723+1759C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16950638 rs12144513 C T 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=156;DB;DBA=NA;PAF=NA;NP=91;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:67:0:0:123,33:3864,996:0.00,80.48:0.00,28.59:0.00,51.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.2,88.7:0,0:0,0:63,100:86,51:41,34:-,NR_026752.1(CROCCP2) n.723+1632G>A:-,NOT_FOUND:-,NOT_FOUND 1 16950650 rs12141607 G C 72 nt VT=SNV;PN=A;NN=T;SST=Single;DP=161;DB;DBA=NA;PAF=NA;NP=78;PC=0.002;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:161:77:0:0:28,132,1:908,4184,10:72.05,0.00,-0.28:31.34,0.00,-0.14:40.71,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,45:95.0,31.6,125.0:0,0,0:0,0,0:92,66,103:58,84,48:32,43,0:NR_026752.1(CROCCP2) n.723+1620C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16950708 rs1628058 T G 461 nt VT=SNV;PN=G;NN=T;SST=Single;DP=173;DB;DBA=NA;PAF=NA;PC=0.950;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:173:110:0:0:140,33:4314,1034:461.26,0.00:237.77,0.00:223.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.8,17.2:0,0:0,0:61,56:84,84:33,38:NR_026752.1(CROCCP2) n.723+1562A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16950807 rs11590427 C T 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=231;DB;DBA=NA;PAF=C/0.7949,T/0.2051;NP=68;PC=0.728;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:231:178:0:0:199,32:6377,1042:0.00,79.18:0.00,37.15:0.00,42.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.8,63.6:0,0:0,0:58,69:85,78:35,37:-,NR_026752.1(CROCCP2) n.723+1463G>A:-,NOT_FOUND:-,NOT_FOUND 1 16950880 rs1629127 T C 417 nt VT=SNV;PN=T;NN=G;SST=Single;DP=242;DB;DBA=NA;PAF=NA;PC=0.528;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:242:169:0:0:1,133,108:11,4259,3383:-0.13,417.32,0.00:-0.11,248.52,0.00:-0.03,168.80,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:129.0,47.1,18.9:0,0,0:0,0,0:110,86,89:41,61,58:0,32,33:NR_026752.1(CROCCP2) n.723+1390A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16950889 rs12045375 G A 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=236;DB;DBA=NA;PAF=G/0.765,A/0.235;NP=101;PC=0.515;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:236:164:0:0:34,202:1069,6035:81.01,0.00:45.74,0.00:35.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.1,33.6:0,0:0,0:75,83:74,64:25,36:NR_026752.1(CROCCP2) n.723+1381C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16951024 rs1624137 T C 895 nt VT=SNV;PN=G;NN=A;SST=Single;DP=234;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:234:118:0:0:1,233:8,7844:0.03,894.80:0.00,306.75:0.03,588.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.0,41.9:0,0:0,0:105,89:41,58:0,30:NR_026752.1(CROCCP2) n.723+1246A>G,NR_026752.1(CROCCP2) n.723+1246A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16952481 rs915311 A G 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3988,G/0.6012;PC=0.001;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:10:4:0:0:4,6:136,200:0.00,19.94:0.00,4.59:0.00,15.35:0.00,0.99:0.00,0.97:0.00,1.00:60,60:8.0,39.3:0,0:0,0:50,116:99,32:37,16:-,NR_026752.1(CROCCP2) n.512T>C:-,NOT_FOUND:-,NOT_FOUND 1 16952622 rs2005302 T G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=52;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:G,T:9:7:0:0:4,5:122,144:11.42,0.00:8.35,0.00:3.07,0.00:0.85,0.00:0.97,0.00:0.74,0.00:60,60:35.2,31.2:0,0:0,0:44,101:106,50:40,27:NR_026752.1(CROCCP2) n.493-122A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16952656 rs182896779 G C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9802,C/0.01977;NP=10;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,G,T:16:16:0:0:4,11,1:136,323,9:11.74,0.00,0.04:11.74,0.00,0.04:0.00,0.00,0.00:0.75,0.00,0.00:0.75,0.00,0.00:0.00,0.00,0.00:60,60,60:63.5,34.6,44.0:0,0,0:0,0,0:22,32,36:128,119,114:7,20,0:NR_026752.1(CROCCP2) n.493-156C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16952703 rs1762944 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,T:33:32:0:0:27,6:847,182:0.00,14.27:0.00,14.41:0.00,-0.13:0.00,0.89:0.00,0.99:0.00,0.44:60,60:31.2,44.7:0,0:0,0:43,26:108,125:27,19:-,NR_026752.1(CROCCP2) n.492+145G>A:-,NOT_FOUND:-,NOT_FOUND 1 16952764 rs1765550 A C 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:72:69:0:0:41,31:1361,874:0.00,80.73:0.00,69.09:0.00,11.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,47.1:0,0:0,0:56,44:94,103:40,28:-,NR_026752.1(CROCCP2) n.492+84T>G:-,NOT_FOUND:-,NOT_FOUND 1 16952896 rs1762945 G A 120 nt VT=SNV;PN=C;NN=T;SST=Single;DP=194;DB;DBA=NA;PAF=NA;PC=0.114;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:194:154:0:0:44,150:1438,4780:119.75,0.00:78.16,0.00:41.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.5,23.1:0,0:0,0:68,55:81,84:41,37:NR_026752.1(CROCCP2) n.444C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16952952 rs1762946 G A 108 nt VT=SNV;PN=A;NN=C;SST=Single;DP=178;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:178:120:0:0:41,137:1297,4651:107.58,0.00:46.32,0.00:61.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.6,32.8:0,0:0,0:82,75:65,70:33,27:NR_026752.1(CROCCP2) n.388C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16952993 rs942268 C G 555 nt VT=SNV;PN=A;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=C/0.1456,G/0.8544;PC=0.972;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:149:77:0:0:149:4842:554.84:178.88:375.95:1.00:1.00:1.00:60:51.4:0:0:102:46:25:NR_026752.1(CROCCP2) n.347G>C,NR_026752.1(CROCCP2) n.347G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16953121 rs1762947 C T 76 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:41:2:0:0:16,1,24:444,11,759:0.00,0.09,75.67:0.00,0.00,5.37:0.00,0.09,70.30:0.00,0.00,1.00:0.00,0.00,0.86:0.00,0.00,1.00:60,60,60:27.1,104.0,56.5:0,0,0:0,0,0:108,80,116:42,71,35:20,0,24:-,NR_026752.1(CROCCP2) n.346-127G>A:-,NOT_FOUND:-,NOT_FOUND 1 16953412 rs2005328 C G 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=59;PC=0.359;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:37:0:0:20,17:644,564:0.00,53.43:0.00,53.43:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:50,60:21.9,46.6:0,0:0,0:49,66:99,80:24,46:-,NR_026752.1(CROCCP2) n.345+228G>C:-,NOT_FOUND:-,NOT_FOUND 1 16953424 rs3856282 G A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=20;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:39:0:0:8,31:257,923:20.93,0.00:20.93,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:50,60:62.8,23.8:0,0:0,0:69,53:81,98:14,25:NR_026752.1(CROCCP2) n.345+216C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16953827 rs57007114 G GC 248 nt VT=INS;SST=Single;DP=337;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GC:337:138:99:0:237,1,99:7886,8,2896:0.00,-0.29,248.30:0.00,-0.06,82.95:0.00,-0.23,165.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,51:14.4,187.0,25.5:1,0,0:0,0,0:101,100,86:45,28,63:29,0,25:-,NR_026752.1(CROCCP2) n.201-44_201-43insG:-,NOT_FOUND:-,NOT_FOUND 1 16953881 rs9329439 C G 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=C/0.5863,G/0.4137,T/.;NP=1223;NP=5;PC=0.001;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:204:65:0:0:3,169,32:39,5009,1029:-0.29,0.00,79.99:0.03,0.00,10.26:-0.32,0.00,69.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:59,60,55:77.7,23.7,47.4:0,0,0:0,0,0:124,112,92:26,35,58:5,25,19:-,NR_026752.1(CROCCP2) n.201-97G>C:-,NOT_FOUND:-,NOT_FOUND 1 16953889 rs1628369 G C 220 nt VT=SNV;PN=G;NN=A;SST=Single;DP=197;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:197:52:0:0:1,73,121,2:8,2405,3976,22:-0.23,219.52,0.00,-0.28:-0.04,38.13,0.00,0.17:-0.19,181.39,0.00,-0.45:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:56.0,40.7,20.4,135.5:0,0,0,0:0,0,0,0:106,114,105,118:33,36,46,32:0,27,28,5:NR_026752.1(CROCCP2) n.201-105C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16953957 rs4644487 G A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=98;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:98:2:0:0:12,86:366,2818:26.60,0.00:-0.11,0.00:26.71,0.00:1.00,0.00:0.36,0.00:1.00,0.00:60,60:58.8,23.9:0,0:0,0:111,96:35,55:17,29:NR_026752.1(CROCCP2) n.201-173C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16954029 rs4457573 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,G:35:2:0:0:31,4:1033,107:0.00,7.24:0.00,-0.08:0.00,7.32:0.00,0.61:0.00,0.35:0.00,0.94:60,60:13.2,92.5:0,0:0,0:106,117:45,33:28,2:-,NR_026752.1(CROCCP2) n.201-245G>C:-,NOT_FOUND:-,NOT_FOUND 1 16954709 rs1746714 G C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01378,C/0.9862;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:113:13.18:13.18:0.00:1.00:1.00:0.00:40:37.0:0:0:73:78:47:NR_026752.1(CROCCP2) n.200+254C>G,NR_026752.1(CROCCP2) n.200+254C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 16954895 rs10157920 T C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=36;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,T:36:36:0:0:4,32:135,1023:9.96,0.00:9.96,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:54.8,16.8:0,0:0,0:40,50:110,100:18,32:NR_026752.1(CROCCP2) n.200+68A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16954916 rs12562443 C T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.7636,T/0.2364;NP=46;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:48:0:0:41,9:1261,311:0.00,25.16:0.00,22.23:0.00,2.94:0.00,0.98:0.00,1.00:0.00,0.75:60,60:16.7,46.0:0,0:0,0:33,55:118,96:28,16:-,NR_026752.1(CROCCP2) n.200+47G>A:-,NOT_FOUND:-,NOT_FOUND 1 16954981 rs10157498 C A 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=0.997;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:93:84:0:0:19,73,1:592,2434,11:47.94,0.00,-0.21:41.65,0.00,-0.12:6.29,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,11.0,59.0:0,0,0:0,0,0:58,48,95:92,97,56:23,25,0:NR_026752.1(CROCCP2) n.182G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16955128 rs1762949 A G 177 nt VT=SNV;PN=G;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=NA;PC=0.852;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:127:66:0:0:67,59,1:2039,1864,10:0.00,176.64,-0.15:0.00,76.59,-0.07:0.00,100.06,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,58:9.0,42.4,122.0:0,0,0:0,0,0:95,75,128:50,65,21:29,34,0:-,NR_026752.1(CROCCP2) n.35T>C:-,NOT_FOUND:-,NOT_FOUND 1 16955283 rs12024782 C G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7999,G/0.2001;NP=69;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,G:29:1:0:0:24,5:773,170:0.00,13.60:0.00,-0.04:0.00,13.64:0.00,0.80:0.00,0.45:0.00,0.80:60,60:18.3,43.8:0,0:0,0:109,95:41,54:31,14:-,NR_026752.1(CROCCP2) n.18-138G>C:-,NOT_FOUND:-,NOT_FOUND 1 16955289 rs10157908 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6883,G/0.3117;NP=102;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:27:1:0:0:21,6:645,158:0.00,12.47:0.00,1.66:0.00,10.81:0.00,0.91:0.00,0.48:0.00,0.91:60,60:13.3,63.3:0,0:0,0:110,56:40,94:19,22:-,NR_026752.1(CROCCP2) n.18-144T>C:-,NOT_FOUND:-,NOT_FOUND 1 16956467 rs1762950 A T 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.5457,T/0.4543;NP=960;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:65:64:0:0:46,19:1376,626:0.00,54.63:0.00,49.94:0.00,4.69:0.00,1.00:0.00,1.00:0.00,0.81:60,60:13.4,69.4:0,0:0,0:59,60:91,91:44,27:-,NR_026752.1(CROCCP2) n.17+918T>A:-,NOT_FOUND:-,NOT_FOUND 1 16956468 rs1762951 A T 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.5457,T/0.4543;NP=960;Gene=CROCCP2/NR_026752.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:66:64:0:0:47,19:1419,617:0.00,53.58:0.00,49.11:0.00,4.47:0.00,1.00:0.00,1.00:0.00,0.88:60,60:11.9,69.4:0,0:0,0:49,61:102,90:38,28:-,NR_026752.1(CROCCP2) n.17+917T>A:-,NOT_FOUND:-,NOT_FOUND 1 16957446 rs698883 T G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1044,G/0.8956;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:141:16.36:10.44:5.92:1.00:1.00:1.00:60:28.2:0:0:26:92:19:NR_026752.1(CROCCP2) n.-45A>C,NR_026752.1(CROCCP2) n.-45A>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 16957956 rs1765525 G A 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.7756,A/0.2244;NP=135 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:85:0:0:13,73:417,2181:32.05,0.00:29.68,0.00:2.37,0.00:1.00,0.00:1.00,0.00:0.72,0.00:60,60:116.3,34.5:0,0:0,0:18,40:133,111:18,31:NR_026752.1(CROCCP2) n.-555C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16957983 rs2761548 C T 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.6154,T/0.3846 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:121:112:0:0:104,17:3221,546:0.00,41.43:0.00,35.85:0.00,5.58:0.00,1.00:0.00,1.00:0.00,0.99:60,60:48.9,64.1:0,0:0,0:36,33:115,118:23,31:-,NR_026752.1(CROCCP2) n.-582G>A:-,NOT_FOUND:-,NOT_FOUND 1 16958007 rs9662311 G A 145 nt VT=SNV;PN=C;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:156:136:0:0:52,104:1633,3369:144.99,0.00:107.63,0.00:37.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:101.4,31.7:0,0:0,0:44,30:107,117:27,18:NR_026752.1(CROCCP2) n.-606C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16958047 rs9658896 C T 196 nt VT=SNV;PN=C;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:198:166:0:0:133,65:4190,2197:0.00,196.31:0.00,120.06:0.00,76.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.6,110.9:0,0:0,0:59,61:83,85:27,30:-,NR_026752.1(CROCCP2) n.-646G>A:-,NOT_FOUND:-,NOT_FOUND 1 16958064 rs1622521 A G 634 nt VT=SNV;PN=C;NN=T;SST=Single;DP=221;DB;DBA=NA;PAF=A/0.3215,G/0.6785 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:221:178:0:0:37,184:1191,5893:0.00,633.54:0.00,343.27:0.00,290.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,66.9:0,0:0,0:44,58:98,86:30,28:-,NR_026752.1(CROCCP2) n.-663T>C:-,NOT_FOUND:-,NOT_FOUND 1 16958155 rs9658906 C T 143 nt VT=SNV;PN=A;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:142:64:0:0:1,91,50:9,2976,1587:-0.22,0.00,142.71:-0.08,0.00,31.15:-0.14,0.00,111.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:59,60,60:233.0,22.6,113.5:0,0,0:0,0,0:86,105,104:63,37,40:0,21,24:-,NR_026752.1(CROCCP2) n.-754G>A:-,NOT_FOUND:-,NOT_FOUND 1 16958172 rs9658913 C G 125 nt VT=SNV;PN=T;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:115:46:0:0:74,41:2384,1384:0.00,125.45:0.00,22.88:0.00,102.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.5,117.8:0,0:0,0:110,109:32,38:17,24:-,NR_026752.1(CROCCP2) n.-771G>C:-,NOT_FOUND:-,NOT_FOUND 1 16958217 rs1624079 T C 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:0:0:0:31,29:892,929:85.94,0.00:0.00,0.00:85.94,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:83.0,3.9:0,0:0,0:117,110:34,40:25,25:NR_026752.1(CROCCP2) n.-816A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16958376 rs1625688 T C 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T:10:1:0:0:3,7:93,227:8.08,0.00:-0.16,0.00:8.23,0.00:0.62,0.00:0.53,0.00:0.94,0.00:60,60:58.3,16.0:0,0:0,0:70,110:81,39:51,15:NR_026752.1(CROCCP2) n.-975A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16958569 rs9329441 T C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:19:19:0:0:4,15:127,491:10.36,0.00:10.41,0.00:-0.05,0.00:0.72,0.00:0.72,0.00:0.47,0.00:60,60:106.5,14.4:0,0:0,0:16,25:122,124:5,15:NR_026752.1(CROCCP2) n.-1168A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16958589 rs9329442 G A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:27:26:0:0:5,22:121,632:8.92,0.00:9.05,0.00:-0.13,0.00:0.82,0.00:0.98,0.00:0.45,0.00:60,60:100.6,19.0:0,0:0,0:36,34:115,115:9,23:NR_026752.1(CROCCP2) n.-1188C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16958694 rs9662561 G A 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=354 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,G,T:51:50:0:0:6,44,1:179,1390,10:12.81,0.00,-0.20:12.87,0.00,-0.19:-0.05,0.00,-0.01:0.85,0.00,0.00:0.99,0.00,0.00:0.41,0.00,0.00:60,60,60:64.2,17.8,10.0:0,0,0:0,0,0:97,79,109:53,72,42:35,43,0:NR_026752.1(CROCCP2) n.-1293C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16958723 rs9730001 G A 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:69:64:0:0:9,60:297,1648:22.43,0.00:21.51,0.00:0.92,0.00:0.97,0.00:1.00,0.00:0.80,0.00:60,60:47.7,17.6:0,0:0,0:63,40:88,109:41,28:NR_026752.1(CROCCP2) n.-1322C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16958833 rs28687450 T A 174 nt VT=SNV;PN=G;NN=A;SST=Single;DP=148;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:148:103:0:0:61,87:1886,2695:174.10,0.00:90.46,0.00:83.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,6.7:0,0:0,0:81,72:61,70:29,30:NR_026752.1(CROCCP2) n.-1432A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16958961 rs1746713 C G 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=571;PC=0.047 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:53:2:0:0:41,12:1250,399:0.00,33.33:0.00,-0.17:0.00,33.50:0.00,1.00:0.00,0.50:0.00,1.00:52,40:19.3,62.4:0,0:0,0:100,103:51,47:32,30:-,NR_026752.1(CROCCP2) n.-1560G>C:-,NOT_FOUND:-,NOT_FOUND 1 16959101 rs698884 C T 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2442,T/0.7558 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:13:0:0:0:3,10:82,329:0.00,34.62:0.00,0.00:0.00,34.62:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.7,66.8:0,0:0,0:98,95:53,54:39,30:-,NR_026752.1(CROCCP2) n.-1700G>A:-,NOT_FOUND:-,NOT_FOUND 1 16959335 rs28703840 A G 13 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=23;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:8:7:0:0:4,4:126,134:0.00,12.90:0.00,13.20:0.00,-0.30:0.00,0.87:0.00,0.99:0.00,0.67:60,60:0.0,71.0:0,0:0,0:61,8:88,138:15,2:-,NR_026752.1(CROCCP2) n.-1934T>C:-,NOT_FOUND:-,NOT_FOUND 1 16959515 rs12048972 G A 42 nt VT=SNV;PN=G;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:57:0:0:15,42:489,1215:41.81,0.00:41.87,0.00:-0.07,0.00:1.00,0.00:1.00,0.00:0.51,0.00:60,60:128.6,22.7:0,0:0,0:45,60:106,91:21,32:NR_026752.1(CROCCP2) n.-2114C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16959551 rs849696 T C 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:83:82:0:0:25,58:810,1784:70.86,0.00:69.77,0.00:1.09,0.00:1.00,0.00:1.00,0.00:0.82,0.00:60,60:122.9,31.8:0,0:0,0:46,44:105,106:35,32:NR_026752.1(CROCCP2) n.-2150A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16959575 rs1807294 A G 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,G,T:107:104:0:0:94,12,1:2955,412,12:0.00,30.68,-0.23:0.00,31.09,-0.34:0.00,-0.41,0.11:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.74,0.00:60,60,60:43.7,142.6,32.0:0,0,0:0,0,0:44,61,23:106,89,128:28,27,0:-,NR_026752.1(CROCCP2) n.-2174T>C:-,NOT_FOUND:-,NOT_FOUND 1 16959602 rs1807293 C T 162 nt VT=SNV;PN=A;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:141:0:0:98,58:3151,1787:0.00,161.63:0.00,137.60:0.00,24.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.8,82.3:0,0:0,0:40,52:109,98:28,38:-,NR_026752.1(CROCCP2) n.-2201G>A:-,NOT_FOUND:-,NOT_FOUND 1 16959612 rs9329443 A G 432 nt VT=SNV;PN=C;NN=T;SST=Single;DP=168;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:168:150:0:0:36,132:1189,4071:0.00,431.89:0.00,324.46:0.00,107.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.2,53.4:0,0:0,0:29,34:118,110:23,22:-,NR_026752.1(CROCCP2) n.-2211T>C:-,NOT_FOUND:-,NOT_FOUND 1 16959732 rs12063740 T TGGGCCTGCAGCA 426 nt VT=INS;SST=Single;DP=253;DB;DBA=NA;PAF=T/0.6132,TGGGCCTGCAGCA/0.3868;DB;DBA=NA;PAF=NA;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TGGGCCTGCAGCA:253:164:135:0:2,116,135:33,3892,4368:0.33,0.00,425.92:-0.14,0.00,220.49:0.47,0.00,205.43:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:134.0,24.3,9.1:0,1,0:0,0,0:88,124,71:61,9,78:14,13,20:-,NR_026752.1(CROCCP2) n.-2332_-2331insTGCTGCAGGCCC:-,NOT_FOUND:-,NOT_FOUND 1 16959814 rs1759187 C T 160 nt VT=SNV;PN=A;NN=A;SST=Single;DP=127;DB;DBA=NA;PAF=C/0.7089,T/0.2911;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:127:25:0:0:67,60:2209,1694:0.00,159.69:0.00,16.67:0.00,143.02:0.00,1.00:0.00,1.00:0.00,1.00:70,70:10.0,37.6:0,0:0,0:111,125:31,23:28,19:-,NR_026752.1(CROCCP2) n.-2413G>A:-,NOT_FOUND:-,NOT_FOUND 1 16959834 rs201123694 G T 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=NA;PC=0.981 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,T:92:6:0:0:83,9:2805,280:0.00,19.57:0.00,1.33:0.00,18.24:0.00,0.96:0.00,0.44:0.00,1.00:70,60:20.5,41.4:0,0:0,0:103,89:47,61:34,46:-,NR_026752.1(CROCCP2) n.-2433C>A:-,NOT_FOUND:-,NOT_FOUND 1 16959924 rs9730456 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=27;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,G:35:2:0:0:6,29:196,883:15.51,0.00:-0.12,0.00:15.63,0.00:0.89,0.00:0.43,0.00:0.99,0.00:60,60:32.7,16.1:0,0:0,0:110,97:40,41:15,25:NR_026752.1(CROCCP2) n.-2523C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 16960911 rs558916148 TGC T 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TGC/0.3554,T/0.6446;DB;DBA=NA;PAF=NA;NP=3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TGC,T:5:4:0:5:1,4:34,134:0.00,14.22:0.00,11.14:0.00,3.08:0.00,0.96:0.00,1.00:0.00,0.99:60,60:124.0,44.2:0,0:0,0:123,47:2,83:0,14:-,NR_026752.1(CROCCP2) n.-3512_-3511delGC:-,NOT_FOUND:-,NOT_FOUND 1 16960927 rs849690 C G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:178:20.19:14.17:6.02:1.00:1.00:1.00:60:56.0:0:0:48:77:26:NR_026752.1(CROCCP2) n.-3526G>C,NR_026752.1(CROCCP2) n.-3526G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16961020 rs1759188 A G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3706,G/0.6294;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G:6:4:0:0:1,5:32,152:0.00,16.39:0.00,9.22:0.00,7.17:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,67.8:0,0:0,0:85,49:66,102:0,33:-,NR_026752.1(CROCCP2) n.-3619T>C:-,NOT_FOUND:-,NOT_FOUND 1 16961114 rs1759189 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:3:0:0:4:105:12.33:4.88:7.45:1.00:1.00:1.00:60:72.5:0:0:115:30:16:NR_026752.1(CROCCP2) n.-3713T>C,NR_026752.1(CROCCP2) n.-3713T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16964183 rs9728368 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=37;PC=0.133 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:122:14.11:3.58:10.53:1.00:1.00:1.00:60:33.5:0:0:131:19:17:NR_026752.1(CROCCP2) n.-6782A>G,NR_026752.1(CROCCP2) n.-6782A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16969095 rs849703 C A 132 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.1923,A/0.8077;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:36:0:0:37:1148:132.32:128.44:3.88:1.00:1.00:1.00:42:60.5:0:0:69:80:35:NR_027504.1(MST1P2) n.-2974C>A,NR_027504.1(MST1P2) n.-2974C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16969120 rs4661879 A G 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=266;PC=0.549 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:47:0:0:25,23:805,653:0.00,61.75:0.00,58.69:0.00,3.06:0.00,1.00:0.00,1.00:0.00,0.65:53,42:40.9,62.1:0,0:0,0:61,56:90,95:42,38:-,NR_027504.1(MST1P2) n.-2949A>G:-,NOT_FOUND:-,NOT_FOUND 1 16969145 rs11580567 T C 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.248 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:65:0:0:16,50:538,1498:45.57,0.00:45.69,0.00:-0.12,0.00:1.00,0.00:1.00,0.00:0.50,0.00:60,60:53.5,39.1:0,0:0,0:67,35:83,115:34,24:NR_027504.1(MST1P2) n.-2924T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16969246 rs11260857 G A 293 nt VT=SNV;PN=C;NN=C;SST=Single;DP=171;DB;DBA=NA;PAF=NA;NP=2468;PC=0.175 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:171:138:0:0:96,75:2987,2363:293.39,0.00:184.15,0.00:109.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,14.8:0,0:0,0:45,34:102,110:27,20:NR_027504.1(MST1P2) n.-2823G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16969381 rs9727604 C T 704 nt VT=SNV;PN=A;NN=G;SST=Single;DP=188;DB;DBA=NA;PAF=NA;NP=3323;PC=0.032 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:188:119:0:0:188:6151:704.50:317.53:386.96:1.00:1.00:1.00:60:41.3:0:0:93:55:29:NR_027504.1(MST1P2) n.-2688C>T,NR_027504.1(MST1P2) n.-2688C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16969715 rs9329444 A G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=2184;PC=0.548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:A,C,G:30:0:0:0:22,1,7:714,5,217:0.00,-0.25,18.08:0.00,0.00,0.00:0.00,-0.25,18.08:0.00,0.00,0.95:0.00,0.00,0.00:0.00,0.00,0.95:60,59,60:6.8,5.0,31.0:0,0,0:0,0,0:116,107,107:34,42,42:25,0,40:-,NR_027504.1(MST1P2) n.-2354A>G:-,NOT_FOUND:-,NOT_FOUND 1 16971793 rs9660685 G C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5463,C/0.4537;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,G:9:8:0:0:6,3:205,81:20.91,0.00:17.20,0.00:3.70,0.00:0.99,0.00:1.00,0.00:0.78,0.00:60,60:106.8,65.0:0,0:0,0:23,39:128,112:7,3:NR_027504.1(MST1P2) n.-276G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16971804 rs9729102 A T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=50;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,T:12:11:0:0:8,4:249,130:0.00,11.59:0.00,11.77:0.00,-0.17:0.00,0.80:0.00,0.98:0.00,0.56:60,60:92.8,65.5:0,0:0,0:27,35:123,116:14,16:-,NR_027504.1(MST1P2) n.-265A>T:-,NOT_FOUND:-,NOT_FOUND 1 16971862 rs10796422 A G 105 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.6797,G/0.3203;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:45:0:0:13,33:434,1017:0.00,105.47:0.00,102.23:0.00,3.23:0.00,1.00:0.00,1.00:0.00,0.81:60,60:44.8,109.8:0,0:0,0:52,42:99,109:17,21:-,NR_027504.1(MST1P2) n.-207A>G:-,NOT_FOUND:-,NOT_FOUND 1 16971866 rs2224812 G T 177 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.2784,T/0.7216;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:T:52:51:0:0:52:1522:176.89:173.01:3.88:1.00:1.00:1.00:60:87.8:0:0:42:109:25:NR_027504.1(MST1P2) n.-203G>T,NR_027504.1(MST1P2) n.-203G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16971948 rs2209174 C G 292 nt VT=SNV;PN=A;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.5224,G/0.4776;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:114:114:0:0:29,85:941,2794:0.00,291.80:0.00,291.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:28.3,68.4:0,0:0,0:48,58:103,91:34,35:-,NR_027504.1(MST1P2) n.-121C>G:-,NOT_FOUND:-,NOT_FOUND 1 16972067 rs1360574 C T 120 nt VT=SNV;PN=T;NN=A;SST=Single;DP=297;DB;DBA=NA;PAF=C/0.7181,T/0.2819;NP=1110;PC=0.045 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:297:235:0:0:247,2,48:8328,23,1536:0.00,-0.54,119.70:0.00,-0.20,75.81:0.00,-0.34,43.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,54:29.5,143.0,78.5:0,0,0:0,0,0:64,85,60:83,65,84:25,7,20:-,NR_027504.1(MST1P2) n.-2C>T:-,NOT_FOUND:-,NOT_FOUND 1 16972068 rs1360575 A G 137 nt VT=SNV;PN=C;NN=C;SST=Single;DP=300;DB;DBA=NA;PAF=A/0.5467,G/0.4533;NP=1950;PC=0.063;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:300:236:0:0:250,1,49:8058,11,1714:0.00,-0.28,136.90:0.00,-0.13,88.67:0.00,-0.15,48.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,2,54:28.6,35.0,73.0:0,0,0:0,0,0:72,72,65:73,79,80:28,0,25:-,NR_027504.1(MST1P2) n.-1A>G:-,NOT_FOUND:-,NOT_FOUND 1 16972134 rs4661404 C T 496 nt VT=SNV;PN=C;NN=C;SST=Single;DP=268;DB;DBA=NA;PAF=NA;PC=0.952;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:268:145:0:0:1,109,158:10,3341,4995:-0.15,0.00,496.31:-0.09,0.00,162.83:-0.06,0.00,333.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:41,60,60:122.0,30.6,57.5:0,0,0:0,0,0:139,96,107:12,49,41:0,29,24:-,NR_027504.1(MST1P2) n.66C>T:-,NOT_FOUND:-,NOT_FOUND 1 16972190 rs4661880 T C 227 nt VT=SNV;PN=C;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=NA;PC=0.026;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:148:49:0:0:1,73,74:23,2369,2322:0.49,227.47,0.00:-0.07,35.54,0.00:0.56,191.93,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,40,60:108.0,103.7,20.8:0,0,0:0,0,0:130,122,114:21,29,36:0,17,15:NR_027504.1(MST1P2) n.105+17T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16972217 rs4661405 C G 148 nt VT=SNV;PN=G;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=21;PC=0.006;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:105:26:0:0:57,48:1746,1564:0.00,147.96:0.00,19.35:0.00,128.61:0.00,1.00:0.00,1.00:0.00,1.00:60,44:13.2,129.4:0,0:0,0:120,88:30,62:22,47:-,NR_027504.1(MST1P2) n.105+44C>G:-,NOT_FOUND:-,NOT_FOUND 1 16972239 rs11260860 G A 131 nt VT=SNV;PN=T;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=84;PC=0.010;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:93:7:0:0:44,1,48:1379,13,1488:131.21,-0.02,0.00:7.30,-0.01,0.00:123.91,-0.01,0.00:1.00,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:54,27,60:128.8,107.0,12.1:0,0,0:0,0,0:56,94,83:94,55,68:33,0,46:NR_027504.1(MST1P2) n.105+66G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16972294 rs11260861 T C 120 nt VT=SNV;PN=T;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:1:0:0:43,33:1225,1097:120.21,0.00:1.86,0.00:118.34,0.00:1.00,0.00:0.71,0.00:1.00,0.00:56,60:117.3,14.5:0,0:0,0:81,91:70,59:21,22:NR_027504.1(MST1P2) n.105+121T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16972300 rs77389030 C T 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=67;PC=0.007;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:1:0:0:53,20:1654,617:0.00,52.65:0.00,-0.07:0.00,52.72:0.00,1.00:0.00,0.52:0.00,1.00:60,56:52.4,130.6:0,0:0,0:97,79:53,72:23,17:-,NR_027504.1(MST1P2) n.105+127C>T:-,NOT_FOUND:-,NOT_FOUND 1 16972338 rs60980767 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=211;PC=0.006;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:1:0:0:11,48:295,1531:22.48,0.00:-0.04,0.00:22.52,0.00:1.00,0.00:0.46,0.00:1.00,0.00:60,60:39.0,67.9:0,0:0,0:119,109:28,41:16,25:NR_027504.1(MST1P2) n.105+165T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16972350 rs74670271 G A 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=23;PC=0.026;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:55:1:0:0:19,1,35:543,9,1196:48.12,-0.14,0.00:-0.09,-0.00,0.00:48.21,-0.14,0.00:1.00,0.00,0.00:0.56,0.00,0.00:1.00,0.00,0.00:56,54,60:106.8,88.0,37.5:0,0,0:0,0,0:116,71,124:34,57,26:23,0,23:NR_027504.1(MST1P2) n.105+177G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16972489 rs2761546 C A 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=72;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,C:5:0:0:0:3,2:100,64:9.97,0.00:0.00,0.00:9.97,0.00:0.78,0.00:0.00,0.00:0.78,0.00:40,55:91.0,0.0:0,0:0,0:127,123:24,27:11,7:NR_027504.1(MST1P2) n.105+316C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16972644 rs75549003 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=16;PC=0.003;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,T:15:13:0:0:10,5:306,161:0.00,14.35:0.00,11.22:0.00,3.12:0.00,0.89:0.00,0.99:0.00,0.63:60,53:15.4,49.4:0,0:0,0:23,27:128,121:14,16:-,NR_027504.1(MST1P2) n.106-220C>T:-,NOT_FOUND:-,NOT_FOUND 1 16972940 rs1970921 G A 337 nt VT=SNV;PN=C;NN=G;SST=Single;DP=190;DB;DBA=NA;PAF=NA;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:190:161:0:0:103,87:3451,2607:337.46,0.00:197.82,0.00:139.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,3.7:0,0:0,0:43,55:101,87:27,30:NR_027504.1(MST1P2) n.182G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16973152 rs1970920 A G 292 nt VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:167:105:0:0:72,95:2202,2966:0.00,292.34:0.00,152.15:0.00,140.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,84.6:0,0:0,0:83,61:65,83:29,35:-,NR_027504.1(MST1P2) n.313A>G:-,NOT_FOUND:-,NOT_FOUND 1 16973155 rs371280231 C G 47 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=166;DB;DBA=NA;PAF=NA;NP=24;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:166:105:0:0:145,21:4577,640:0.00,46.68:0.00,45.83:0.00,0.85:0.00,1.00:0.00,1.00:0.00,1.00:60,40:37.0,140.9:0,0:0,0:81,39:64,111:35,23:-,NR_027504.1(MST1P2) n.316C>G:-,NOT_FOUND:-,NOT_FOUND 1 16973159 rs374474199 A T 66 nt VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=33;PC=0.001;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:167:107:0:0:142,25:4351,847:0.00,66.04:0.00,62.63:0.00,3.41:0.00,1.00:0.00,1.00:0.00,1.00:60,42:37.3,130.4:0,0:0,0:88,34:59,107:28,22:-,NR_027504.1(MST1P2) n.320A>T:-,NOT_FOUND:-,NOT_FOUND 1 16973184 rs55828106 G A 166 nt VT=SNV;PN=T;NN=T;SST=Single;DP=173;DB;DBA=NA;PAF=NA;NP=2318;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:173:117:0:0:60,113:1855,3826:165.59,0.00:71.30,0.00:94.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:74.5,39.9:0,0:0,0:92,69:52,81:36,40:NR_027504.1(MST1P2) n.345G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16973198 rs368927391 G A 123 nt VT=SNV;PN=G;NN=A;SST=Single;DP=165;DB;DBA=NA;PAF=NA;NP=789;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:165:107:0:0:44,1,120:1436,10,3843:123.19,-0.25,0.00:92.88,-0.13,0.00:30.32,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,52,60:92.7,60.0,38.4:0,0,0:0,0,0:45,105,93:92,46,52:15,0,33:NR_027504.1(MST1P2) n.359G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16973327 rs200697339 G A 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=165;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G,T:165:122:0:0:15,149,1:409,4685,11:26.58,0.00,-0.31:22.00,0.00,-0.26:4.58,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:40,54,40:112.8,40.7,107.0:0,0,0:0,0,0:37,56,26:114,91,125:21,28,0:NR_027504.1(MST1P2) n.365+123G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16973388 rs76880030 C T 315 nt VT=SNV;PN=A;NN=G;SST=Single;DP=227;DB;DBA=NA;PAF=NA;NP=1552;PC=0.218;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:227:191:0:0:120,1,106:3698,12,3321:0.00,-0.14,314.91:0.00,-0.08,262.95:0.00,-0.06,51.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,3,42:20.4,109.0,101.0:0,0,0:0,0,0:72,135,64:78,16,85:34,0,44:-,NR_027504.1(MST1P2) n.366-87C>T:-,NOT_FOUND:-,NOT_FOUND 1 16973400 rs2761542 G A 554 nt VT=SNV;PN=G;NN=G;SST=Single;DP=252;DB;DBA=NA;PAF=NA;NP=1144;PC=0.997;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:252:211:0:0:170,2,77,3:5396,16,2358,33:553.96,-0.16,0.00,0.04:486.01,-0.09,0.00,0.04:67.95,-0.07,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,60,54,42:83.2,73.0,10.4,24.3:0,0,0,0:0,0,0,0:51,54,81,94:100,81,70,39:39,14,35,18:NR_027504.1(MST1P2) n.366-75G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16973419 rs202199433 G A 271 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=278;DB;DBA=NA;PAF=NA;NP=239;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:278:245:0:0:96,182:3029,5159:271.18,0.00:269.32,0.00:1.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,54:90.4,36.6:0,0:0,0:38,51:112,96:29,30:NR_027504.1(MST1P2) n.366-56G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16973423 rs61499416 C T 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=283;DB;DBA=NA;PAF=NA;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:283:247:0:0:1,247,1,34:10,7501,13,1080:-0.39,0.00,-0.34,79.33:-0.33,0.00,-0.28,61.33:-0.06,0.00,-0.06,18.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:27,60,27,40:139.0,47.4,220.0,93.3:0,0,0,0:0,0,0,0:93,46,102,66:58,104,49,83:0,33,0,35:-,NR_027504.1(MST1P2) n.366-52C>T:-,NOT_FOUND:-,NOT_FOUND 1 16973519 rs2501762 G A 168 nt VT=SNV;PN=C;NN=T;SST=Single;DP=717;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:717:621:0:0:73,641,3:2356,19870,37:168.37,0.00,-0.88:143.08,0.00,-0.68:25.29,0.00,-0.20:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,27:48.0,16.5,104.7:0,0,0:0,0,0:49,45,45:102,105,106:24,23,10:NR_027504.1(MST1P2) n.410G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16973606 rs76859932 G T 328 nt VT=SNV;PN=C;NN=G;SST=Single;DP=1221;DB;DBA=NA;PAF=NA;PC=0.998;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1221:909:0:0:1,1,1081,138:11,10,32401,4481:-0.45,-0.46,0.00,327.62:-0.28,-0.28,0.00,194.16:-0.18,-0.18,0.00,133.45:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:52,27,60,56:73.0,143.0,11.0,39.4:0,0,0,0:0,0,0,0:83,122,65,72:68,27,83,73:0,0,35,39:-,NR_027504.1(MST1P2) n.497G>T:-,NOT_FOUND:-,NOT_FOUND 1 16973919 rs141898836 A G 491 nt VT=SNV;PN=G;NN=G;SST=Single;DP=705;DB;DBA=NA;PAF=NA;NP=3349;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:705:234:0:0:519,1,185:16857,10,5783:0.00,-0.21,490.57:0.00,-0.04,172.07:0.00,-0.18,318.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,27,44:24.4,53.0,42.0:0,0,0:0,0,0:90,112,84:61,37,67:35,0,34:-,NR_027504.1(MST1P2) n.620-39A>G:-,NOT_FOUND:-,NOT_FOUND 1 16973996 rs200256873 A G 418 nt VT=SNV;PN=A;NN=T;SST=Single;DP=386;DB;DBA=NA;PAF=NA;NP=1634;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:386:150:0:0:239,1,146:7464,21,4591:0.00,0.02,417.67:0.00,0.22,70.61:0.00,-0.20,347.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,27,44:27.4,146.0,76.5:0,0,0:0,0,0:101,109,118:48,42,33:29,0,17:-,NR_027504.1(MST1P2) n.658A>G:-,NOT_FOUND:-,NOT_FOUND 1 16974010 rs201140718 G C 340 nt VT=SNV;PN=C;NN=A;SST=Single;DP=335;DB;DBA=NA;PAF=NA;PC=0.989;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:335:136:0:0:1,119,215:9,3778,6732:-0.25,340.11,0.00:-0.10,68.80,0.00:-0.15,271.32,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:41,44,50:89.0,88.6,28.1:0,0,0:0,0,0:30,124,105:121,25,43:0,16,32:NR_027504.1(MST1P2) n.672G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16974021 rs142740321 G A 189 nt VT=SNV;PN=G;NN=T;SST=Single;DP=287;DB;DBA=NA;PAF=NA;NP=1697;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:287:128:0:0:70,217:2243,6788:188.52,0.00:75.02,0.00:113.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,50:60.3,46.9:0,0:0,0:97,119:50,29:26,22:NR_027504.1(MST1P2) n.683G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16974054 rs200160917 A G 168 nt VT=SNV;PN=A;NN=T;SST=Single;DP=166;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:166:75:0:0:107,59:3300,1868:0.00,168.05:0.00,54.38:0.00,113.67:0.00,1.00:0.00,1.00:0.00,1.00:50,40:24.7,90.0:0,0:0,0:91,132:56,18:30,17:-,NR_027504.1(MST1P2) n.716A>G:-,NOT_FOUND:-,NOT_FOUND 1 16974140 rs367807952 CG C 82 nt VT=DEL;SST=Single;DP=135;DB;DBA=NA;PAF=NA;NP=62;PC=0.003;Gene=MST1P2/NR_027504.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,G,C:135:81:0:40:94,1,40:2656,8,981:0.00,-0.24,81.72:0.00,-0.10,63.97:0.00,-0.14,17.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,15,40:32.5,187.0,72.3:0,0,0:0,0,0:67,76,62:82,75,87:35,0,20:-,NR_027504.1(MST1P2) n.738+65delG:-,NOT_FOUND:-,NOT_FOUND 1 16974149 rs151122120 C A 180 nt VT=SNV;PN=T;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=NA;NP=572;PC=0.007;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:143:90:0:0:68,73,2:1902,2185,18:180.04,0.00,-0.23:98.39,0.00,-0.20:81.64,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:41,43,43:64.6,26.1,120.0:0,0,0:0,0,0:74,63,34:75,88,111:28,34,8:NR_027504.1(MST1P2) n.738+73C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16974182 rs370176636 C A 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=C/0.8361,A/0.1639;NP=18;NP=94;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:A,C,G,T:187:143:0:0:14,171,1,1:465,5259,11,21:31.66,0.00,-0.30,0.09:18.93,0.00,-0.22,0.17:12.74,0.00,-0.09,-0.09:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.90,0.00,0.00,0.00:40,43,43,40:108.9,45.6,67.0,197.0:0,0,0,0:0,0,0,0:58,57,17,51:92,92,134,100:36,38,0,0:NR_027504.1(MST1P2) n.739-97C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16974243 rs372123873 G C 384 nt VT=SNV;PN=T;NN=T;SST=Single;DP=369;DB;DBA=NA;PAF=NA;NP=359;PC=0.001;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:369:338:0:0:134,234,1:4251,7560,8:384.25,0.00,-0.29:372.98,0.00,-0.24:11.27,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,55,40:95.7,31.9,114.0:0,0,0:0,0,0:32,42,80:118,106,59:23,31,0:NR_027504.1(MST1P2) n.739-36G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16974256 rs560643608 G C 1075 nt VT=SNV;PN=C;NN=G;SST=Single;DP=428;DB;DBA=NA;PAF=NA;NP=2865;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:428:399:0:0:1,330,96,1:19,10165,2830,13:0.08,1075.30,0.00,-0.04:-0.06,1034.09,0.00,-0.01:0.14,41.21,0.00,-0.02:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:25,46,55,40:109.0,64.5,15.1,197.0:0,0,0,0:0,0,0,0:140,33,47,125:11,118,98,26:0,24,29,0:NR_027504.1(MST1P2) n.739-23G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16974277 rs201514041 A C 135 nt VT=SNV;PN=A;NN=G;SST=Single;DP=564;DB;DBA=NA;PAF=NA;NP=397;PC=0.007;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:564:520:0:0:504,60:15993,1895:0.00,135.39:0.00,115.63:0.00,19.76:0.00,1.00:0.00,1.00:0.00,1.00:55,54:36.0,86.2:0,0:0,0:34,47:116,103:23,21:-,NR_027504.1(MST1P2) n.739-2A>C:-,NOT_FOUND:-,NOT_FOUND 1 16974312 rs368199873 G C 322 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=748;DB;DBA=NA;PAF=NA;NP=510;PC=0.059;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:748:652:0:0:126,621,1:4090,20874,9:322.04,0.00,-0.26:334.29,0.00,-0.17:-12.24,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,55,43:65.2,24.9,56.0:0,0,0:0,0,0:54,51,114:97,98,37:25,28,0:NR_027504.1(MST1P2) n.772G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16974511 rs58679574 G A 653 nt VT=SNV;PN=C;NN=G;SST=Single;DP=983;DB;DBA=NA;PAF=NA;PC=0.677;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:983:638:0:0:240,2,739,2:7748,11,22471,25:652.83,-0.63,0.00,-0.55:333.87,-0.33,0.00,-0.24:318.96,-0.30,0.00,-0.32:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,55:48.7,119.5,18.6,90.5:0,0,0,0:0,0,0,0:66,35,65,69:81,116,81,82:38,4,31,21:NR_027504.1(MST1P2) n.971G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16974592 rs201212576 C T 320 nt VT=SNV;PN=C;NN=C;SST=Single;DP=982;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:982:616:0:0:1,850,1,130:9,26577,11,4237:-0.36,0.00,-0.35,319.50:-0.18,0.00,-0.18,156.09:-0.18,0.00,-0.18,163.41:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:33,60,44,60:39.0,37.8,175.0,47.0:0,0,0,0:0,0,0,0:106,80,35,80:45,63,114,63:0,36,0,32:-,NR_027504.1(MST1P2) n.1052C>T:-,NOT_FOUND:-,NOT_FOUND 1 16974637 rs16854791 T C 1333 nt VT=SNV;PN=A;NN=G;SST=Single;DP=816;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:816:478:0:0:1,450,1,364:13,13624,12,11522:-0.13,1332.55,-0.14,0.00:-0.08,490.40,-0.08,0.00:-0.05,842.15,-0.05,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:13,60,42,60:126.0,69.6,62.0,24.1:0,0,0,0:0,0,0,0:11,93,41,60:138,54,110,85:0,29,0,37:NR_027504.1(MST1P2) n.1097T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16974662 rs28460410 C A 1104 nt VT=SNV;PN=T;NN=C;SST=Single;DP=755;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:755:410:0:0:385,367,1,2:11468,11604,11,21:1103.70,0.00,-0.14,-0.40:302.91,0.00,-0.08,-0.25:800.78,0.00,-0.06,-0.15:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,44,40:83.7,24.5,175.0,142.5:0,0,0,0:0,0,0,0:93,74,105,58:55,73,44,93:29,36,0,42:NR_027504.1(MST1P2) n.1122C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16974666 rs28503658 C T 213 nt VT=SNV;PN=G;NN=G;SST=Single;DP=739;DB;DBA=NA;PAF=NA;NP=1853;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:739:401:0:0:645,3,91:19932,46,2889:0.00,-0.56,213.19:0.00,-0.37,97.00:0.00,-0.19,116.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,50,60:57.0,112.7,50.7:0,0,0:0,0,0:90,44,77:58,107,73:33,17,27:-,NR_027504.1(MST1P2) n.1126C>T:-,NOT_FOUND:-,NOT_FOUND 1 16974745 rs28526603 G A 532 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=498;DB;DBA=NA;PAF=NA;PC=0.425;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:498:170:0:0:199,2,297:5823,20,9686:531.80,-0.43,0.00:-15.74,-0.16,0.00:547.54,-0.27,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,40,60:134.5,157.0,22.2:0,0,0:0,0,0:99,81,90:52,52,58:34,27,35:NR_027504.1(MST1P2) n.1205G>A,-:0.18,-:NOT_FOUND,- 1 16974758 rs28484638 G A 626 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=442;DB;DBA=NA;PAF=NA;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:442:153:0:0:199,1,240,2:6624,6,7322,20:626.16,-0.20,0.00,-0.41:-4.87,-0.09,0.00,-0.18:631.03,-0.11,0.00,-0.24:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:48,40,60,40:130.9,93.0,17.7,77.5:0,0,0,0:0,0,0,0:103,37,91,101:46,104,57,41:32,0,32,34:NR_027504.1(MST1P2) n.1218G>A,-:0.38,-:NOT_FOUND,- 1 16974780 rs28537673 C T 385 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=384;DB;DBA=NA;PAF=NA;NP=34;PC=0.623;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:384:129:0:0:244,3,137:7157,31,4274:0.00,-0.56,384.88:0.00,-0.31,1.57:0.00,-0.25,383.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,40:22.8,111.0,147.2:0,0,0:0,0,0:87,36,97:60,95,51:38,7,26:-,NR_027504.1(MST1P2) n.1240C>T:-,NOT_FOUND:-,NOT_FOUND 1 16974786 rs28622547 G C 425 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=390;DB;DBA=NA;PAF=G/0.7887,C/0.2113;PC=0.857;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:390:134:0:0:167,222,1:4610,6608,23:424.75,0.00,0.16:1.82,0.00,0.33:422.93,0.00,-0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,60,57:135.9,18.8,99.0:0,0,0:0,0,0:96,76,6:55,67,145:32,37,0:NR_027504.1(MST1P2) n.1246G>C,-:0.36,-:NOT_FOUND,- 1 16974859 . TGCCAGC T 55 nt VT=DEL;SST=Single;DP=265;NP=17;PC=0.620;Gene=MST1P2/NR_027504.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGCCAGC,T:265:96:0:30:235,30:7255,809:0.00,54.70:0.00,7.51:0.00,47.19:0.00,1.00:0.00,1.00:0.00,1.00:60,40:47.0,102.4:0,0:0,0:85,78:63,73:36,17:-,NR_027504.1(MST1P2) n.1322_1327delCAGCGC:-,NOT_FOUND:-,NOT_FOUND 1 16974868 rs28715800 G T 394 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=240;DB;DBA=NA;PAF=NA;PC=0.995;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:240:89:0:0:113,127:3508,4059:0.00,394.35:0.00,56.90:0.00,337.46:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.2,93.2:0,30:0,0:79,89:67,62:30,31:-,NR_027504.1(MST1P2) n.1328G>T:-,NOT_FOUND:-,NOT_FOUND 1 16974901 rs28562993 A G 336 nt VT=SNV;PN=A;NN=T;SST=Single;DP=209;DB;DBA=NA;PAF=NA;NP=1011;PC=0.991;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:209:93:0:0:101,108:3261,3470:0.00,335.53:0.00,85.80:0.00,249.73:0.00,1.00:0.00,1.00:0.00,1.00:60,41:7.6,108.9:0,0:0,0:94,96:56,54:31,31:-,NR_027504.1(MST1P2) n.1361A>G:-,NOT_FOUND:-,NOT_FOUND 1 16974915 rs59636978 C T 221 nt VT=SNV;PN=C;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=NA;NP=430;PC=0.009;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:213:96:0:0:133,1,79:3941,9,2445:0.00,-0.25,221.47:0.00,-0.11,86.56:0.00,-0.13,134.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,59:29.5,224.0,122.9:0,0,0:0,0,0:98,2,81:52,147,70:33,0,46:-,NR_027504.1(MST1P2) n.1375C>T:-,NOT_FOUND:-,NOT_FOUND 1 16974972 rs58464479 C T 115 nt VT=SNV;PN=C;NN=T;SST=Single;DP=199;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:199:117:0:0:155,2,42:4921,15,1391:0.00,-0.55,114.86:0.00,-0.31,67.58:0.00,-0.24,47.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,59:54.2,162.0,102.5:0,0,0:0,0,0:62,69,56:87,80,89:38,10,30:-,NR_027504.1(MST1P2) n.1432C>T:-,0.31:-,NOT_FOUND 1 16975002 rs2093773 C T 430 nt VT=SNV;PN=A;NN=T;SST=Single;DP=226;DB;DBA=NA;PAF=C/0.4908,T/0.5092;PC=0.056;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:226:160:0:0:2,86,1,137:21,2690,11,4296:-0.11,0.00,-0.09,430.40:0.01,0.00,-0.02,329.78:-0.11,0.00,-0.07,100.62:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:27,60,27,59:61.0,16.7,190.0,96.5:0,0,0,0:0,0,0,0:48,77,22,48:102,71,129,101:0,36,0,33:-,NR_027504.1(MST1P2) n.1462C>T:-,NOT_FOUND:-,NOT_FOUND 1 16975005 rs75691517 C T 255 nt VT=SNV;PN=T;NN=G;SST=Single;DP=233;DB;DBA=NA;PAF=C/0.9706,T/0.02935;NP=85;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:233:167:0:0:142,91:4372,2796:0.00,255.34:0.00,210.62:0.00,44.72:0.00,1.00:0.00,1.00:0.00,1.00:60,44:40.9,107.2:0,0:0,0:75,39:73,109:39,30:-,NR_027504.1(MST1P2) n.1465C>T:-,NOT_FOUND:-,NOT_FOUND 1 16975045 rs55763726 G A 697 nt VT=SNV;PN=C;NN=C;SST=Single;DP=416;DB;DBA=NA;PAF=NA;PC=0.954;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:416:328:0:0:223,3,189,1:7140,42,5824,21:697.01,0.22,0.00,0.08:541.81,-0.18,0.00,0.15:155.20,0.40,0.00,-0.07:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:44,57,60,42:65.7,100.0,25.9,100.0:0,0,0,0:0,0,0,0:33,36,44,23:115,108,101,128:14,9,27,0:NR_027504.1(MST1P2) n.1505G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16975202 rs28602904 T C 1543 nt VT=SNV;PN=C;NN=C;SST=Single;DP=691;DB;DBA=NA;PAF=NA;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:691:449:0:0:2,482,2,205:20,14958,25,6745:-0.20,1543.23,-0.15,0.00:-0.09,769.28,-0.07,0.00:-0.11,773.95,-0.08,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:42,60,42,53:95.5,65.2,182.0,31.8:0,0,0,0:0,0,0,0:41,74,72,83:108,76,79,68:22,40,34,42:NR_027504.1(MST1P2) n.1619+43T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16975230 rs2761535 G C 2353 nt VT=SNV;PN=C;NN=C;SST=Single;DP=651;DB;DBA=NA;PAF=NA;PC=0.004;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:651:411:0:0:4,645,1,1:41,20501,9,10:0.27,2353.15,0.00,0.02:0.22,1155.04,0.00,0.00:0.05,1198.11,0.00,0.02:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:46,52,60,41:120.2,61.8,86.0,59.0:0,0,0,0:0,0,0,0:49,68,58,61:100,81,92,48:10,32,0,0:NR_027504.1(MST1P2) n.1620-21G>C,NR_027504.1(MST1P2) n.1620-21G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16975278 rs57664153 A ACC 375 nt VT=INS;SST=Single;DP=675;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=220;NP=248;PC=0.996;Gene=MST1P2/NR_027504.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,ACC:665:401:198:0:464,9,2,2,188:13494,154,20,20,4791:0.00,3.30,-0.53,-0.54,374.68:0.00,-1.17,-0.27,-0.27,90.08:0.00,4.46,-0.26,-0.27,284.60:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,42,40,40,46:43.9,96.6,36.5,143.5,55.2:1,5,0,0,10:0,0,0,0,0:73,72,33,89,91:73,79,116,61,58:36,24,8,40,28:-,NR_027504.1(MST1P2) n.1648C[9]:-,NOT_FOUND:-,NOT_FOUND 1 16975289 rs200220176 T A 189 nt VT=SNV;PN=G;NN=T;SST=Single;DP=686;DB;DBA=NA;PAF=NA;NP=1316;PC=0.983;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:686:402:0:0:81,2,603:2579,22,18771:188.79,-0.70,0.00:53.27,-0.27,0.00:135.52,-0.43,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,25,60:76.9,88.5,33.8:0,0,0:0,0,0:97,67,59:54,71,86:28,38,34:NR_027504.1(MST1P2) n.1656+2T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16975429 rs60947741 T C 254 nt VT=SNV;PN=T;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:173:78:0:0:87,86:2649,2691:254.42,0.00:84.95,0.00:169.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:52.2,22.4:0,0:0,0:127,92:24,56:20,25:NR_027504.1(MST1P2) n.1710T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16975489 rs79648786 C G 104 nt VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:95:49:0:0:55,38,2:1587,1132,18:0.00,104.03,-0.20:0.00,84.80,0.13:0.00,19.23,-0.33:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,40,40:41.8,85.6,108.5:0,0,0:0,0,0:101,56,56:47,95,94:33,16,6:-,NR_027504.1(MST1P2) n.1770C>G:-,NOT_FOUND:-,NOT_FOUND 1 16975495 rs199672680 T C 308 nt VT=SNV;PN=T;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=691;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:91:48:0:0:1,88,2:13,2682,21:0.21,308.45,0.44:0.00,171.78,0.44:0.21,136.67,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:25,41,40:53.0,64.0,107.5:0,0,0:0,0,0:33,69,40:118,82,100:0,35,16:NR_027504.1(MST1P2) n.1776T>C,NR_027504.1(MST1P2) n.1776T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 16975509 rs202191400 T G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=27;PC=0.990;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:G,T:97:61:0:0:8,89:248,2799:16.64,0.00:15.24,0.00:1.40,0.00:0.92,0.00:0.69,0.00:0.87,0.00:40,40:75.9,59.5:0,0:0,0:28,78:122,73:18,35:NR_027504.1(MST1P2) n.1790T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 16975626 rs12031642 G C 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=232;DB;DBA=NA;PAF=NA;NP=908;PC=0.002;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:232:155:0:0:33,198,1:1071,6462,13:81.79,0.00,-0.26:53.80,0.00,-0.10:27.99,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,50,43:48.0,22.5,191.0:0,0,0:0,0,0:54,42,0:97,105,151:27,24,0:NR_027504.1(MST1P2) n.1818-43G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16975682 . T C 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=342;NP=6;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:342:230:0:0:2,38,302:14,1261,9480:-0.73,92.64,0.00:-0.36,51.36,0.00:-0.37,41.28,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,43,50:141.5,43.6,15.6:0,0,0:0,0,0:57,71,61:93,70,84:1,23,29:NR_027504.1(MST1P2) n.1831T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16975724 rs149232270 GC G 98 nt VT=DEL;SST=Single;DP=365;DB;DBA=NA;PAF=GC/0.7542,G/0.2458;NP=493;PC=0.943;Gene=MST1P2/NR_027504.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:365:256:0:46:319,46:10320,1359:0.00,98.42:0.00,51.79:0.00,46.64:0.00,1.00:0.00,1.00:0.00,1.00:51,51:22.8,18.0:0,0:0,0:83,86:67,61:35,33:-,NR_027504.1(MST1P2) n.1874C[2]:-,NOT_FOUND:-,NOT_FOUND 1 16975831 rs28504091 C T 612 nt VT=SNV;PN=A;NN=G;SST=Single;DP=367;DB;DBA=NA;PAF=NA;NP=421;PC=0.009;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:367:232:0:0:164,2,201:5110,21,6248:0.00,-0.23,611.54:0.00,-0.04,326.49:0.00,-0.20,285.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:51,42,40:15.7,50.5,42.8:0,0,0:0,0,0:80,90,64:66,55,87:26,13,36:-,NR_027504.1(MST1P2) n.1896-43C>T:-,NOT_FOUND:-,NOT_FOUND 1 16975994 rs2261801 T C 764 nt VT=SNV;PN=C;NN=C;SST=Single;DP=347;DB;DBA=NA;PAF=NA;PC=0.988;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:347:241:0:0:1,240,106:10,7428,3487:-0.11,764.46,0.00:-0.05,425.05,0.00:-0.06,339.41,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,41,60:245.0,40.0,7.7:0,0,0:0,0,0:91,52,68:56,99,78:0,26,35:NR_027504.1(MST1P2) n.2016T>C,-:0.25,-:NOT_FOUND,- 1 16976193 rs61772256 C T 690 nt VT=SNV;PN=C;NN=G;SST=Single;DP=292;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:292:132:0:0:86,2,204:2608,23,6691:0.00,-0.05,689.92:0.00,-0.10,191.39:0.00,0.05,498.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,53:7.5,83.0,38.6:0,0,0:0,0,0:87,60,119:56,72,29:23,19,17:-,NR_027504.1(MST1P2) n.2134C>T:-,0.38:-,NOT_FOUND 1 16976345 rs200927593 T C 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=0.006;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:117:76:0:0:2,20,95:36,576,3016:0.67,44.10,0.00:0.74,16.88,0.00:-0.07,27.22,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,52:119.5,52.1,11.4:0,0,0:0,0,0:83,92,55:67,59,96:42,57,41:NR_027504.1(MST1P2) n.2190T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16976391 . C T 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=219;NP=1;NP=2;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:219:173:0:0:185,1,33:5936,10,962:0.00,-0.35,71.85:0.00,-0.22,56.73:0.00,-0.13,15.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,43,42:24.9,96.0,71.6:0,0,0:0,0,0:34,104,24:116,47,126:23,0,13:-,NR_027504.1(MST1P2) n.2236C>T:-,NOT_FOUND:-,NOT_FOUND 1 16976451 rs201492135 G A 541 nt VT=SNV;PN=T;NN=G;SST=Single;DP=284;DB;DBA=NA;PAF=NA;NP=990;PC=0.925;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:284:239:0:0:174,1,109:5408,12,3567:541.48,-0.12,0.00:425.46,-0.04,0.00:116.02,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:49,9,52:68.3,42.0,9.9:0,0,0:0,0,0:63,108,91:88,40,60:16,0,26:NR_027504.1(MST1P2) n.2289+7G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16976539 rs199931165 A G 1284 nt VT=SNV;PN=C;NN=G;SST=Single;DP=493;DB;DBA=NA;PAF=NA;NP=1231;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:493:390:0:0:87,3,401,2:2904,50,11929,19:0.00,1.32,1283.52,-0.07:0.00,0.05,924.02,0.01:0.00,1.27,359.50,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:57,43,46,42:27.1,79.7,93.9,141.0:0,0,0,0:0,0,0,0:56,59,32,58:85,90,118,91:32,27,18,8:-,NR_027504.1(MST1P2) n.2290-30A>G:-,NOT_FOUND:-,NOT_FOUND 1 16976569 rs78288272 G A 888 nt VT=SNV;PN=G;NN=G;SST=Single;DP=563;DB;DBA=NA;PAF=NA;NP=1053;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:563:454:0:0:286,1,276:9208,27,8737:887.88,0.36,0.00:594.36,0.46,0.00:293.52,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:56,27,57:115.3,134.0,58.8:0,0,0:0,0,0:45,36,59:104,115,90:20,0,27:NR_027504.1(MST1P2) n.2290G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16976585 rs1135350 C T 269 nt VT=SNV;PN=C;NN=A;SST=Single;DP=626;DB;DBA=NA;PAF=NA;NP=1695;PC=0.998;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:626:488:0:0:2,518,2,104:22,16734,26,3415:-0.59,0.00,-0.54,269.34:-0.35,0.00,-0.39,165.13:-0.24,0.00,-0.15,104.21:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:27,57,43,43:123.0,86.6,57.5,72.2:0,0,0,0:0,0,0,0:45,57,37,66:106,92,113,82:27,29,30,25:-,NR_027504.1(MST1P2) n.2306C>T:-,NOT_FOUND:-,NOT_FOUND 1 16976620 rs55885953 A G 216 nt VT=SNV;PN=G;NN=A;SST=Single;DP=735;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:735:547:0:0:645,90:20735,2915:0.00,215.99:0.00,92.98:0.00,123.01:0.00,1.00:0.00,1.00:0.00,1.00:56,57:85.6,58.1:0,0:0,0:72,79:75,71:34,40:-,NR_027504.1(MST1P2) n.2341A>G:-,NOT_FOUND:-,NOT_FOUND 1 16976641 rs1057417 C T 1392 nt VT=SNV;PN=C;NN=G;SST=Single;DP=803;DB;DBA=NA;PAF=NA;NP=1;NP=2744;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:803:553:0:0:373,2,428:11496,25,14281:0.00,-0.24,1391.89:0.00,-0.09,675.89:0.00,-0.15,716.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:57,43,56:44.0,73.5,115.2:0,0,0:0,0,0:77,21,75:68,130,75:39,0,38:-,NR_027504.1(MST1P2) n.2362C>T:-,NOT_FOUND:-,NOT_FOUND 1 16976649 rs1057333 C T 1427 nt VT=SNV;PN=G;NN=G;SST=Single;DP=829;DB;DBA=NA;PAF=NA;NP=2308;PC=0.999;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:829:543:0:0:1,381,447:11,12172,14615:-0.15,0.00,1426.88:-0.06,0.00,635.83:-0.09,0.00,791.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:1,57,56:207.0,44.0,109.1:0,0,0:0,0,0:63,83,64:86,66,81:0,38,34:-,NR_027504.1(MST1P2) n.2370C>T:-,NOT_FOUND:-,NOT_FOUND 1 16976679 rs1065528 G A 494 nt VT=SNV;PN=C;NN=C;SST=Single;DP=697;DB;DBA=NA;PAF=NA;NP=3133;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:697:394:0:0:185,1,508,3:5800,10,17000,35:493.73,-0.21,0.00,-0.68:157.38,-0.08,0.00,-0.15:336.35,-0.13,0.00,-0.52:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:51,42,45,43:58.1,58.0,78.2,148.3:0,0,0,0:0,0,0,0:90,141,75,74:56,10,69,77:27,0,27,23:NR_027504.1(MST1P2) n.2400G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16976681 rs3175284 G T 956 nt VT=SNV;PN=C;NN=T;SST=Single;DP=697;DB;DBA=NA;PAF=NA;NP=1979;PC=1.000;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:697:393:0:0:3,390,304:36,12739,10173:-0.46,0.00,955.87:-0.11,0.00,385.49:-0.35,0.00,570.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,51,45:158.0,44.4,109.0:0,0,0:0,0,0:95,79,87:54,64,60:55,27,27:-,NR_027504.1(MST1P2) n.2402G>T:-,NOT_FOUND:-,NOT_FOUND 1 16976772 rs79425189 G T 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=249;DB;DBA=NA;PAF=NA;NP=1520;PC=0.913;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:249:65:0:0:204,45:6468,1408:0.00,111.24:0.00,14.74:0.00,96.51:0.00,1.00:0.00,1.00:0.00,1.00:60,43:62.2,87.8:0,0:0,0:128,136:23,12:14,7:-,NR_027504.1(MST1P2) n.2493G>T:-,NOT_FOUND:-,NOT_FOUND 1 16976786 rs201445230 G C 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=NA;NP=534;PC=0.823;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:157:33:0:0:20,135,2:588,4104,36:42.48,0.00,0.72:5.21,0.00,-0.03:37.28,0.00,0.75:1.00,0.00,0.00:0.96,0.00,0.00:1.00,0.00,0.00:43,60,40:99.3,61.1,111.0:0,0,0:0,0,0:141,127,123:7,23,11:5,20,21:NR_027504.1(MST1P2) n.2507G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 16976805 rs1057421 G A 180 nt VT=SNV;PN=A;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=0.700;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:90:8:0:0:54,1,35:1797,7,1099:179.52,-0.12,0.00:9.28,-0.02,0.00:170.24,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,27,60:102.7,74.0,28.8:0,0,0:0,0,0:51,24,116:98,127,27:18,0,24:NR_027504.1(MST1P2) n.2526G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16976807 rs11139 C T 186 nt VT=SNV;PN=G;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=35;PC=0.647;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:8:0:0:27,58:824,1815:0.00,186.07:0.00,6.66:0.00,179.41:0.00,1.00:0.00,1.00:0.00,1.00:60,45:21.2,101.9:0,0:0,0:109,55:38,94:18,18:-,NR_027504.1(MST1P2) n.2528C>T:-,NOT_FOUND:-,NOT_FOUND 1 16976825 rs2761525 C A 178 nt VT=SNV;PN=T;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=161;PC=0.069;Gene=MST1P2/NR_027504.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:81:6:0:0:58,23:1712,698:177.61,0.00:5.95,0.00:171.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:92.8,20.9:0,0:0,0:65,127:86,24:19,17:NR_027504.1(MST1P2) n.2546C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 16977023 rs55833467 C A 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=144 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,C:11:0:0:0:8,3:267,100:27.72,0.00:0.00,0.00:27.72,0.00:1.00,0.00:0.00,0.00:1.00,0.00:52,27:54.2,0.0:0,0:0,0:83,29:67,122:39,4:chr1 g.16977022C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16977083 rs56211648 T G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:G,T:8:0:0:0:3,5:91,168:8.23,0.00:0.00,0.00:8.23,0.00:0.67,0.00:0.00,0.00:0.67,0.00:43,42:81.3,16.0:0,0:0,0:131,85:20,66:1,4:chr1 g.16977082T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16983099 rs372271483 T C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5611,C/0.4389;NP=10;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:10:0:0:0:4,6:136,199:12.59,0.00:0.00,0.00:12.59,0.00:0.84,0.00:0.00,0.00:0.84,0.00:27,27:52.0,19.0:0,0:0,0:79,81:70,69:14,34:chr1 g.16983098T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16983706 rs199579458 G C 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=257;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:C,G:8:8:0:0:6,2:207,56:21.61,0.00:21.61,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:27,27:44.8,23.5:0,0:0,0:77,78:72,71:13,50:chr1 g.16983705G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16984000 rs200397290 TG T 7 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.006;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:TG,T:13:0:0:4:9,4:281,86:0.00,7.02:0.00,0.00:0.00,7.02:0.00,0.79:0.00,0.00:0.00,0.79:27,27:113.8,68.0:0,0:0,0:117,102:34,48:20,20:-,chr1 g.16984001delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16984002 . G C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,G:13:0:0:0:4,9:100,248:8.39,0.00:0.00,0.00:8.39,0.00:0.79,0.00:0.00,0.00:0.79,0.00:27,27:68.0,113.8:0,0:0,0:103,119:47,32:20,20:chr1 g.16984001G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16984004 rs376591364 G T 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=74 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:13:0:0:0:7,6:200,198:0.00,18.78:0.00,0.00:0.00,18.78:0.00,0.97:0.00,0.00:0.00,0.97:27,27:81.1,121.3:4,0:0,0:121,101:30,49:18,42:-,chr1 g.16984003G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16984007 rs200443170 T A 11 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,T:13:0:0:0:4,9:123,248:10.74,0.00:0.00,0.00:10.74,0.00:0.79,0.00:0.00,0.00:0.79,0.00:27,27:68.0,113.8:4,0:0,0:108,124:42,27:20,20:chr1 g.16984006T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16984010 rs201771886 G C 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,G:11:0:0:0:9,2:221,65:23.99,0.00:0.00,0.00:23.99,0.00:1.00,0.00:0.00,0.00:1.00,0.00:27,27:119.6,77.5:0,0:0,0:99,136:52,12:36,9:chr1 g.16984009G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16984011 rs199579099 T G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:G,T:10:0:0:0:5,5:142,159:13.55,0.00:0.00,0.00:13.55,0.00:0.95,0.00:0.00,0.00:0.95,0.00:27,27:160.8,54.4:0,0:0,0:96,124:55,26:32,17:chr1 g.16984010T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 16984018 rs200705695 C T 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,T:9:0:0:0:5,4:156,135:0.00,12.72:0.00,0.00:0.00,12.72:0.00,0.85:0.00,0.00:0.00,0.85:27,27:54.4,165.8:0,0:0,0:131,87:19,64:17,17:-,chr1 g.16984017C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 16984033 rs201868496 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4976,T/0.5024;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:8:0:0:0:4,4:117,129:0.00,12.40:0.00,0.00:0.00,12.40:0.00,0.87:0.00,0.00:0.00,0.87:27,27:51.5,165.8:0,0:0,0:134,102:16,49:14,17:-,chr1 g.16984032C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17007359 rs148000093 A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=62;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:A,G:15:15:0:0:10,5:296,157:0.00,13.94:0.00,13.94:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:42,25:10.6,40.4:0,0:0,0:23,17:128,134:19,5:-,chr1 g.17007358A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17007531 rs150982605 C T 164 nt VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=904;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:69:0:0:37,51:1180,1662:0.00,164.43:0.00,84.40:0.00,80.03:0.00,1.00:0.00,1.00:0.00,1.00:43,42:7.3,43.2:0,0:0,0:75,85:71,60:23,23:-,chr1 g.17007530C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17007661 rs56321515 G C 11 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=908;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,G:34:10:0:0:5,29:144,857:10.66,0.00:11.47,0.00:-0.81,0.00:0.79,0.00:0.73,0.00:0.94,0.00:40,40:42.6,14.5:0,0:0,0:43,84:106,67:16,49:chr1 g.17007660G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17007763 rs5772705 TG T 12 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.035;Gene=MIR3675/NR_037446.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:TG,T:28:5:0:8:20,8:615,151:0.00,11.60:0.00,0.89:0.00,10.71:0.00,0.98:0.00,0.80:0.00,1.00:60,50:21.0,33.4:0,0:0,0:77,104:73,47:43,34:-,chr1 g.17007764delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17007855 rs1236822 C T 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.01558,T/0.9844 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:443:50.97:0.00:50.97:1.00:0.00:1.00:60:50.1:0:0:107:43:19:chr1 g.17007854C>T (intergenic),chr1 g.17007854C>T (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 17008051 rs2743507 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:4:0:0:1,3:34,82:0.00,8.65:0.00,8.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:50,60:138.0,57.0:0,0:0,0:92,32:36,119:0,23:-,chr1 g.17008050A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17008302 rs2786824 G T 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1702;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:36:34:0:0:22,14:687,459:0.00,42.15:0.00,35.81:0.00,6.34:0.00,1.00:0.00,1.00:0.00,0.98:60,60:15.7,38.4:0,0:0,0:54,64:89,86:27,32:-,chr1 g.17008301G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17008459 rs3981493 T A 29 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=159;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:53:23:0:0:11,42:360,1356:29.50,0.00:1.43,0.00:28.07,0.00:1.00,0.00:0.98,0.00:1.00,0.00:42,60:100.2,13.7:0,0:0,0:122,84:15,66:17,37:chr1 g.17008458T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17008477 rs2761501 C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=81;PC=0.289 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,T:44:19:0:0:39,5:1244,140:0.00,9.68:0.00,-0.84:0.00,10.52:0.00,0.75:0.00,0.81:0.00,0.93:60,40:11.7,147.8:0,0:0,0:84,124:65,27:36,15:-,chr1 g.17008476C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17008478 rs2761500 A G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=25;NP=89;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,G:42:18:0:0:36,6:1122,132:0.00,8.74:0.00,-0.61:0.00,9.35:0.00,0.87:0.00,0.88:0.00,0.97:60,51:9.8,140.7:0,0:0,0:80,121:66,30:37,13:-,chr1 g.17008477A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17008496 rs2761499 T C 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=3;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:C,T:41:18:0:0:4,37:130,1038:9.23,0.00:-0.70,0.00:9.93,0.00:0.58,0.00:0.74,0.00:0.85,0.00:40,60:161.2,12.8:0,0:0,0:131,83:19,62:14,36:chr1 g.17008495T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17008503 rs2761498 G A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=9;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,G:38:17:0:0:3,35:98,1119:6.68,0.00:-0.54,0.00:7.21,0.00:0.38,0.00:0.64,0.00:0.75,0.00:37,60:170.3,13.6:0,0:0,0:126,88:24,55:9,34:chr1 g.17008502G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17008736 rs2991736 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=16;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T:7:0:0:0:3,4:85,136:7.85,0.00:0.00,0.00:7.85,0.00:0.69,0.00:0.00,0.00:0.69,0.00:40,40:110.0,10.5:0,0:0,0:113,107:38,43:4,0:chr1 g.17008735T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17008768 rs199584886 A T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=80;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,T:6:0:0:0:3,3:98,84:0.00,8.02:0.00,0.00:0.00,8.02:0.00,0.73:0.00,0.00:0.00,0.73:40,40:14.0,110.0:0,0:0,0:139,145:12,6:0,4:-,chr1 g.17008767A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17012241 rs2761492 G T 243 nt VT=SNV;PN=T;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.1252,T/0.8748;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:T:67:50:0:0:67:2108:242.57:143.62:98.95:1.00:1.00:1.00:60:41.2:0:0:69:76:33:chr1 g.17012240G>T (intergenic),chr1 g.17012240G>T (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 1 17012645 rs538523378 C T 83 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=14;PC=0.647 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:19:0:0:29,26:828,870:0.00,82.98:0.00,15.70:0.00,67.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.4,61.9:0,0:0,0:112,96:39,54:24,24:-,chr1 g.17012644C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17012709 rs2761491 G A 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A:33:0:0:0:33:1050:120.61:0.00:120.61:1.00:0.00:1.00:60:76.8:0:0:89:62:23:chr1 g.17012708G>A (intergenic),chr1 g.17012708G>A (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 1 17012761 rs2761490 C G 86 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7899,G/0.2101;PC=0.850 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:G,T:24:0:0:0:23,1:758,7:86.34,0.17:0.00,0.00:86.34,0.17:1.00,0.00:0.00,0.00:1.00,0.00:60,60:84.3,69.0:0,0:0,0:124,52:23,94:16,0:chr1 g.17012760C>G (intergenic),chr1 g.17012760C>G (intergenic):0.17,0.17:NOT_FOUND,NOT_FOUND 1 17012907 rs59752390 ATATTATTAT A 8 sb,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.234;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:ATATTATTAT,A:8:4:0:3:5,3:167,92:0.00,8.33:0.00,7.52:0.00,0.81:0.00,0.67:0.00,0.85:0.00,0.90:60,60:41.4,27.7:0,0:0,0:123,19:28,132:19,3:-,chr1 g.17012908_17012916delTATTATTAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17012987 rs74476040 G T 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1776;PC=0.484 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:G,T:14:12:0:0:5,9:150,306:0.00,30.93:0.00,22.27:0.00,8.66:0.00,1.00:0.00,1.00:0.00,0.96:60,63:29.8,42.6:0,0:0,0:34,68:117,82:17,29:-,chr1 g.17012986G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17013086 rs2235257 T C 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=2760;PC=0.733 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:31:0:0:16,17:540,560:51.71,0.00:45.24,0.00:6.47,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:64.9,27.8:0,0:0,0:48,32:102,118:34,19:chr1 g.17013085T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17013189 rs2786825 A G 205 nt VT=SNV;PN=C;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.0601,G/0.9399;PC=0.737 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:G,T:58:42:0:0:57,1:1788,13:205.38,0.29:97.03,0.29:108.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,59:70.4,31.0:0,0:0,0:72,136:78,15:30,0:chr1 g.17013188A>G (intergenic),chr1 g.17013188A>G (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 1 17013191 rs2786826 A G 84 nt VT=SNV;PN=T;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:43:0:0:32,28:1010,890:0.00,84.33:0.00,37.72:0.00,46.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.0,86.6:0,0:0,0:83,86:65,64:33,27:-,chr1 g.17013190A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17013214 rs10907263 T C 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:40:0:0:17,41:539,1305:46.79,0.00:14.46,0.00:32.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.2,61.8:0,0:0,0:107,77:44,74:15,38:chr1 g.17013213T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17013249 . A G 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;NP=105;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:25:0:0:42,11:1322,361:0.00,29.60:0.00,5.32:0.00,24.28:0.00,1.00:0.00,0.99:0.00,1.00:60,60:46.7,111.5:0,0:0,0:94,79:53,70:36,11:-,chr1 g.17013248A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17013363 rs1765545 G A 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.248 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:17:4:0:0:5,12:111,403:9.00,0.00:3.05,0.00:5.96,0.00:0.88,0.00:0.76,0.00:0.99,0.00:53,60:67.4,7.0:0,0:0,0:122,114:29,37:17,13:chr1 g.17013362G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17013750 rs1765547 G A 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:44:0:0:21,23:650,657:61.74,0.00:59.91,0.00:1.83,0.00:1.00,0.00:1.00,0.00:0.65,0.00:60,60:72.9,22.5:0,0:0,0:51,59:99,91:17,28:chr1 g.17013749G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17013818 rs657907 T A 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:72:65:0:0:14,2,56:429,16,1735:34.40,-0.34,0.00:20.97,-0.22,0.00:13.43,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:94.3,88.5,27.2:0,0,0:0,0,0:60,30,34:88,121,116:40,23,25:chr1 g.17013817T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17013839 rs1765548 G C 123 nt VT=SNV;PN=T;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:86:71:0:0:40,46:1297,1544:122.96,0.00:80.30,0.00:42.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.0,8.7:0,0:0,0:43,52:107,99:33,25:chr1 g.17013838G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17013916 rs59725107 GT G 53 nt VT=DEL;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=2242;PC=1.000;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,T,G:85:50:0:20:64,1,20:2116,10,630:0.00,-0.22,52.52:0.00,-0.12,21.78:0.00,-0.09,30.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:45.1,132.0,8.8:0,0,0:0,0,0:76,110,100:67,39,46:32,0,20:-,chr1 g.17013917delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17013945 rs545745 A G 103 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:79:44:0:0:44,35:1456,1095:0.00,102.63:0.00,34.11:0.00,68.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,72.9:0,0:0,0:99,104:50,43:37,28:-,chr1 g.17013944A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17013974 rs545014 C T 71 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:23:0:0:35,23:1062,772:0.00,71.28:0.00,17.79:0.00,53.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.6,73.0:0,0:0,0:101,102:50,49:33,16:-,chr1 g.17013973C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17014081 rs544074 C T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:0:0:0:16,8:474,276:0.00,24.78:0.00,0.00:0.00,24.78:0.00,0.99:0.00,0.00:0.00,0.99:60,60:11.1,70.0:0,0:0,0:63,110:87,39:31,16:-,chr1 g.17014080C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17014138 rs656545 A T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.958 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,T:18:1:0:0:13,5:352,164:0.00,14.18:0.00,3.42:0.00,10.76:0.00,0.87:0.00,0.52:0.00,0.99:60,60:11.7,88.6:0,0:0,0:93,111:58,40:25,39:-,chr1 g.17014137A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17014160 rs656206 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.577 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,G:14:1:0:0:11,3:337,95:0.00,7.78:0.00,2.71:0.00,5.07:0.00,0.56:0.00,0.48:0.00,0.92:60,60:13.8,104.0:0,0:0,0:111,63:40,87:18,23:-,chr1 g.17014159A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17014635 rs2761486 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.336 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:6:6:0:0:4,2:139,65:14.15,0.00:14.15,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:60.8,172.0:0,0:0,0:43,12:107,138:18,1:chr1 g.17014634T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17014672 rs74704337 T C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=38;PC=0.487 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:10:10:0:0:3,7:104,226:9.18,0.00:9.18,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:60,60:69.3,128.1:0,0:0,0:66,23:84,128:8,21:chr1 g.17014671T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17014679 rs546996 T C 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.444 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:10:10:0:0:5,5:161,174:15.47,0.00:15.47,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:172.4,48.6:0,0:0,0:29,73:122,77:20,28:chr1 g.17014678T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17014691 rs547027 T C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.231 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:13:13:0:0:6,7:187,224:17.65,0.00:17.65,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:159.0,34.7:0,0:0,0:36,77:114,74:21,36:chr1 g.17014690T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17014694 rs643497 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:14:0:0:7,7:232,213:0.00,20.40:0.00,20.40:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:34.7,160.1:0,0:0,0:80,35:71,116:36,23:-,chr1 g.17014693A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17014728 rs547146 T A 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:24:0:0:12,12:378,379:36.29,0.00:36.29,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:120.9,14.5:0,0:0,0:41,35:107,115:29,23:chr1 g.17014727T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17014739 rs643129 A C 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:24:24:0:0:12,11,1:378,349,10:0.00,33.20,0.10:0.00,33.20,0.10:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:11.6,116.7,167.0:0,0,0:0,0,0:40,57,46:110,94,105:20,32,0:-,chr1 g.17014738A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17017476 . AG A 15 nt VT=DEL;SST=Single;DP=24;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:AG,A:24:24:0:6:18,6:494,176:0.00,14.63:0.00,14.63:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,70:12.2,10.0:0,0:0,0:53,24:97,126:30,17:-,chr1 g.17017477delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17017675 rs2743471 C A 268 nt VT=SNV;PN=C;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:103:73:0:0:80,22,1:2531,695,10:268.07,0.00,0.00:164.37,0.00,-0.06:103.70,0.00,0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:55.7,4.0,97.0:0,0,0:0,0,0:66,52,111:83,99,32:37,35,0:chr1 g.17017674C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17017717 rs12561804 C T 68 nt VT=SNV;PN=T;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:121:85:0:0:94,1,26:3144,10,824:0.00,-0.25,67.58:0.00,-0.16,38.22:0.00,-0.09,29.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.6,145.0,83.7:0,0,0:0,0,0:53,116,61:91,35,86:34,0,40:-,NR_026567.1(ESPNP) n.2011G>A:-,NOT_FOUND:-,NOT_FOUND 1 17017734 rs12561805 C T 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.7099,T/0.2901;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:130:94:0:0:1,102,27:11,3163,944:-0.25,0.00,78.56:-0.17,0.00,40.68:-0.08,0.00,37.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:48,60,60:202.0,20.6,83.9:0,0,0:0,0,0:111,59,79:24,88,68:0,33,39:-,NR_026567.1(ESPNP) n.1994G>A:-,NOT_FOUND:-,NOT_FOUND 1 17017962 rs10907264 T C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,T:13:1:0:0:8,5:228,152:22.81,0.00:3.27,0.00:19.55,0.00:1.00,0.00:0.74,0.00:1.00,0.00:60,60:35.2,2.0:0,0:0,0:98,99:53,52:44,17:NR_026567.1(ESPNP) n.1939-173A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17018877 rs674873 T C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.509,C/0.491;NP=348;PC=0.991;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:8:8:0:0:6,2:184,68:19.30,0.00:17.38,0.00:1.93,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:68.5,73.0:0,0:0,0:34,22:117,127:21,17:NR_026567.1(ESPNP) n.1939-1088A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17018928 . CCGGGGAGGCGCGG C 12 nt VT=DEL;SST=Single;DP=10;PC=0.099;Gene=ESPNP/NR_026567.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:CCGGGGAGGCGCGG,C:10:9:0:4:6,4:205,132:0.00,12.19:0.00,12.41:0.00,-0.22:0.00,0.84:0.00,0.98:0.00,0.60:60,60:80.2,77.5:0,0:0,0:73,76:76,75:31,9:-,NR_026567.1(ESPNP) n.1939-1152_1939-1140delCCGCGCCTCCCCG:-,NOT_FOUND:-,NOT_FOUND 1 17018935 rs61773361 G A 11 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.563;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:6:5:0:4:4,2:111,69:11.31,0.00:11.79,0.00:-0.48,0.00:0.93,0.00:0.99,0.00:0.78,0.00:60,59:95.0,50.5:0,0:0,0:59,123:91,11:10,6:NR_026567.1(ESPNP) n.1939-1146C>T,-:0.15,-:NOT_FOUND,- 1 17018943 rs369477933 GGGGAGGCGCGGCGGGCC G 11 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=8;PC=0.453;Gene=ESPNP/NR_026567.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:GGGGAGGCGCGGCGGGCC,G:10:9:0:4:6,4:193,124:0.00,11.39:0.00,11.61:0.00,-0.22:0.00,0.84:0.00,0.98:0.00,0.60:60,60:68.5,95.0:4,0:0,0:87,67:64,83:23,10:-,NR_026567.1(ESPNP) n.1939-1171_1939-1155delGGCCCGCCGCGCCTCCC:-,NOT_FOUND:-,NOT_FOUND 1 17018960 rs674412 C G 14 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.453;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:4:4:120:13.91:13.91:0.00:1.00:1.00:0.00:60:77.5:0:0:95:56:9:NR_026567.1(ESPNP) n.1939-1171G>C,NR_026567.1(ESPNP) n.1939-1171G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17018978 rs2610628 T G 13 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=5;PC=0.995;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:G,T:8:8:0:0:4,4:135,105:13.00,0.00:13.15,0.00:-0.15,0.00:0.87,0.00:0.87,0.00:0.67,0.00:60,60:95.0,77.5:4,0:0,0:85,113:65,38:10,9:NR_026567.1(ESPNP) n.1939-1189A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17019022 rs674334 T C 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:5:0:0:8:252:29.01:16.29:12.72:1.00:1.00:1.00:60:85.0:0:0:119:31:24:NR_026567.1(ESPNP) n.1939-1233A>G,NR_026567.1(ESPNP) n.1939-1233A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17022909 rs557582 C G 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.8245,G/0.1755;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:110:103:0:0:87,23:2852,720:0.00,58.52:0.00,47.62:0.00,10.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.8,65.4:0,0:0,0:65,62:85,89:31,44:-,NR_026567.1(ESPNP) n.1938+17G>C:-,0.17:-,NOT_FOUND 1 17022952 rs557690 C A 431 nt VT=SNV;PN=T;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.03714,A/0.9629;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:124:102:0:0:123,1:3748,15:430.90,0.00:266.49,0.00:164.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,28.0:0,0:0,0:77,50:67,101:35,0:NR_026567.1(ESPNP) n.1912G>T,NR_026567.1(ESPNP) n.1912G>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 17023110 rs11260887 G A 150 nt VT=SNV;PN=C;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=G/0.6761,A/0.3239;PC=0.999;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:200:139:0:0:52,1,147:1750,9,4275:150.33,-0.28,0.00:78.54,-0.17,0.00:71.79,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:78.4,129.0,28.5:0,0,0:0,0,0:78,107,82:72,42,66:44,0,35:NR_026567.1(ESPNP) n.1754C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17023126 rs2610633 C G 126 nt VT=SNV;PN=G;NN=T;SST=Single;DP=202;DB;DBA=NA;PAF=C/0.8169,A/.,G/0.1831;PC=0.438;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:202:140:0:0:153,49:5172,1514:0.00,126.20:0.00,68.13:0.00,58.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,40.6:0,0:0,0:89,83:60,68:32,39:-,NR_026567.1(ESPNP) n.1738G>C:-,0.14:-,NOT_FOUND 1 17023143 rs559507 C T 336 nt VT=SNV;PN=C;NN=G;SST=Single;DP=203;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:203:140:0:0:100,103:2954,3481:0.00,336.32:0.00,180.84:0.00,155.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.0,75.0:0,0:0,0:87,72:64,75:38,45:-,NR_026567.1(ESPNP) n.1721G>A:-,NOT_FOUND:-,NOT_FOUND 1 17023182 rs614461 C G 346 nt VT=SNV;PN=C;NN=A;SST=Single;DP=218;DB;DBA=NA;PAF=C/0.5172,G/0.4828;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:218:151:0:0:106,112:3330,3580:0.00,345.70:0.00,174.47:0.00,171.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.3,66.6:0,0:0,0:63,58:80,91:41,38:-,NR_026567.1(ESPNP) n.1682G>C:-,NOT_FOUND:-,NOT_FOUND 1 17023376 rs613579 C T 271 nt VT=SNV;PN=C;NN=G;SST=Single;DP=178;DB;DBA=NA;PAF=C/0.605,G/.,T/0.395;NP=2274;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:178:77:0:0:93,1,84:2828,11,2836:0.00,-0.16,270.57:0.00,-0.09,89.57:0.00,-0.08,181.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.1,122.0,61.3:0,0,0:0,0,0:84,88,99:65,63,51:37,0,32:-,NR_026567.1(ESPNP) n.1572G>A:-,NOT_FOUND:-,NOT_FOUND 1 17023403 rs10907267 G A 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=159;DB;DBA=NA;PAF=G/0.6855,A/0.3145,C/.;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:159:66:0:0:33,126:1053,4040:85.81,0.00:21.93,0.00:63.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:95.9,29.1:0,0:0,0:99,81:52,66:30,38:NR_026567.1(ESPNP) n.1545C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17023483 rs563062 C T 114 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:34:0:0:44,37:1315,1208:0.00,114.27:0.00,21.35:0.00,92.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.8,113.3:0,0:0,0:98,106:39,44:28,20:-,NR_026567.1(ESPNP) n.1529-64G>A:-,NOT_FOUND:-,NOT_FOUND 1 17023509 rs563142 T C 75 nt VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.6599,C/0.3401;NP=106;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:15:0:1:26,36:814,1088:75.49,0.00:12.64,0.00:62.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:131.1,43.8:0,0:0,0:116,110:34,39:15,13:NR_026567.1(ESPNP) n.1529-90A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17023511 rs563144 C A 214 nt VT=SNV;PN=C;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.2776,A/0.7224;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:A,C,T:62:14:0:0:60,1,1:1879,31,7:214.05,0.00,0.06:30.50,0.00,0.00:183.55,0.00,0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:79.7,68.0,79.0:0,1,0:0,0,0:116,147,69:33,2,82:13,0,0:NR_026567.1(ESPNP) n.1529-92G>T,NR_026567.1(ESPNP) n.1529-92G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17023569 rs563960 T C 92 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.111,C/0.889;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:30:0:0:0:30:787:92.50:0.00:92.50:1.00:0.00:1.00:60:69.2:0:0:94:56:35:NR_026567.1(ESPNP) n.1529-150A>G,NR_026567.1(ESPNP) n.1529-150A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 17024300 rs481027 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,T:13:13:0:0:6,7:179,227:0.00,22.16:0.00,22.16:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:15.7,66.1:0,0:0,0:33,55:117,96:20,35:-,NR_026567.1(ESPNP) n.1529-881G>A:-,NOT_FOUND:-,NOT_FOUND 1 17024378 rs1057788 G A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,G:18:18:0:0:5,13:166,412:14.37,0.00:12.83,0.00:1.54,0.00:0.87,0.00:0.87,0.00:0.57,0.00:60,60:46.4,28.2:0,0:0,0:53,90:98,61:11,37:NR_026567.1(ESPNP) n.1529-959C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17024662 rs2761484 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=96;PC=0.019;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:19:2:0:0:3,16:101,503:7.93,0.00:-0.11,0.00:8.05,0.00:0.51,0.00:0.41,0.00:0.90,0.00:60,60:40.7,17.4:0,0:0,0:145,108:6,42:5,32:NR_026567.1(ESPNP) n.1529-1243C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17025690 rs536183 C T 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.03814,T/0.9619;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:134:15.77:15.77:0.00:1.00:1.00:0.00:60:56.8:0:0:52:99:37:NR_026567.1(ESPNP) n.1528+231G>A,NR_026567.1(ESPNP) n.1528+231G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 17025786 rs679703 C G 64 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.500;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:C,G:21:21:0:0:1,20:10,564:0.00,64.32:0.00,64.32:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,53:101.0,92.1:0,0:0,0:42,61:109,89:0,28:NR_026567.1(ESPNP) n.1528+135G>C,NR_026567.1(ESPNP) n.1528+135G>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 17025828 rs2610624 G C 86 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.63,C/0.37;PC=0.563;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:50:49:0:0:1,28,21:12,867,619:0.09,85.52,0.00:0.11,74.62,0.00:-0.02,10.90,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,56,56:126.0,79.9,51.5:0,0,0:0,0,0:121,34,25:23,116,126:0,22,10:NR_026567.1(ESPNP) n.1528+93C>G,-:0.36,-:NOT_FOUND,- 1 17025852 rs537296 T C 228 nt VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:C:62:58:0:0:62:1987:228.13:189.84:38.29:1.00:1.00:1.00:60:59.4:0:0:48:102:20:NR_026567.1(ESPNP) n.1528+69A>G,NR_026567.1(ESPNP) n.1528+69A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 17025992 rs12026928 G A 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.101;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:121:79:0:0:27,94:905,2989:75.49,0.00:25.75,0.00:49.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.7,26.1:0,0:0,0:92,87:54,57:31,28:NR_026567.1(ESPNP) n.1457C>T,-:0.21,-:NOT_FOUND,- 1 17026004 rs9661305 C G 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:115:69:0:0:92,23:3019,758:0.00,61.81:0.00,25.07:0.00,36.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.6,51.1:0,0:0,0:95,92:51,57:32,17:-,NR_026567.1(ESPNP) n.1445G>C:-,0.45:-,NOT_FOUND 1 17026043 rs678439 G GGCA 85 idl,nt VT=INS;SST=Single;DP=90;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.631;Gene=ESPNP/NR_026567.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GGCA:83:40:35:0:2,53,28:57,1592,1164:2.85,0.00,85.05:-0.17,0.00,17.20:3.02,0.00,67.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:108.5,26.8,44.4:0,2,7:0,0,0:102,104,95:49,47,56:6,34,29:-,NR_026567.1(ESPNP) n.1403_1405dupTGC:-,NOT_FOUND:-,NOT_FOUND 1 17026087 rs678369 G A 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:26:0:0:31,36:965,1130:91.18,0.00:26.99,0.00:64.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:44.9,14.3:0,0:0,0:94,76:57,75:35,29:NR_026567.1(ESPNP) n.1362C>T,-:0.36,-:NOT_FOUND,- 1 17026232 rs677827 G C 125 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:74:67:0:0:41,33:1277,937:125.14,0.00:108.29,0.00:16.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.2,18.9:0,0:0,0:39,59:112,91:20,39:NR_026567.1(ESPNP) n.1333-116C>G,-:0.31,-:NOT_FOUND,- 1 17026254 rs77347183 G A 57 nt VT=SNV;PN=G;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=NA;PC=0.989;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:78:0:0:23,62:680,1953:57.45,0.00:47.90,0.00:9.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.0,21.3:0,0:0,0:55,43:96,106:23,23:NR_026567.1(ESPNP) n.1332+100C>T,-:0.19,-:NOT_FOUND,- 1 17026494 . C G 89 nt VT=SNV;PN=T;NN=G;SST=Single;DP=154;NP=1;PC=0.975;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:154:76:0:0:120,34:3625,1081:0.00,89.10:0.00,37.28:0.00,51.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.4,40.9:0,0:0,0:98,82:50,64:31,24:-,NR_026567.1(ESPNP) n.1192G>C:-,NOT_FOUND:-,NOT_FOUND 1 17026551 rs665763 G C 152 nt VT=SNV;PN=A;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:98:34:0:0:47,51:1588,1666:151.76,0.00:28.28,0.00:123.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,21.9:0,0:0,0:101,108:48,38:22,27:NR_026567.1(ESPNP) n.1171-36C>G,-:0.29,-:NOT_FOUND,- 1 17026755 rs1810436 G C 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.990;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:C,G:9:0:0:0:3,6:89,182:7.85,0.00:0.00,0.00:7.85,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:40.7,34.8:0,0:0,0:101,107:50,38:14,23:NR_026567.1(ESPNP) n.1171-240C>G,-:0.2,-:NOT_FOUND,- 1 17026802 rs567368 C G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2831,G/0.7169;PC=0.055;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,G:6:0:0:0:3,3:73,90:0.00,8.63:0.00,0.00:0.00,8.63:0.00,0.73:0.00,0.00:0.00,0.73:60,60:32.7,70.3:0,0:0,0:134,98:16,53:14,22:-,NR_026567.1(ESPNP) n.1171-287G>C:-,0.73:-,NOT_FOUND 1 17026803 rs567371 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2831,T/0.7169;PC=0.053;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:6:0:0:0:3,3:61,95:0.00,9.13:0.00,0.00:0.00,9.13:0.00,0.73:0.00,0.00:0.00,0.73:60,60:32.7,70.3:0,0:0,0:135,99:15,52:14,22:-,NR_026567.1(ESPNP) n.1171-288G>A:-,0.72:-,NOT_FOUND 1 17028990 rs55876796 G A 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=54;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:12:11:0:0:6,6:195,193:18.75,0.00:15.27,0.00:3.48,0.00:0.98,0.00:1.00,0.00:0.67,0.00:60,60:43.2,3.0:0,0:0,0:29,60:122,90:23,28:NR_026567.1(ESPNP) n.1170+206C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17029257 rs12125112 T C 95 nt VT=SNV;PN=G;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.7746,C/0.2254;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:52:0:0:33,51:1039,1525:95.19,0.00:48.19,0.00:47.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,20.7:0,0:0,0:106,109:36,39:26,17:NR_026567.1(ESPNP) n.1109A>G,-:0.15,-:NOT_FOUND,- 1 17029367 . T G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;PC=0.001;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:G,T:44:36:0:1:7,37:131,937:8.24,0.00:-1.32,0.00:9.56,0.00:0.93,0.00:0.99,0.00:0.76,0.00:60,60:77.0,22.8:0,0:0,0:45,52:96,93:34,34:NR_026567.1(ESPNP) n.999A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17029462 rs11260891 A G 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=0.054;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:43:0:0:61,22:1954,659:0.00,55.55:0.00,14.51:0.00,41.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.7,84.3:0,0:0,0:89,87:60,49:22,36:-,NR_026567.1(ESPNP) n.904T>C:-,NOT_FOUND:-,NOT_FOUND 1 17029513 rs523936 C G 127 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:53:25:0:0:15,38:475,1226:0.00,126.99:0.00,41.26:0.00,85.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,56.9:0,0:0,0:106,108:45,43:24,26:-,NR_026567.1(ESPNP) n.899-46G>C:-,NOT_FOUND:-,NOT_FOUND 1 17029664 rs580387 T C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=140;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:0:0:0:8,8:244,254:23.39,0.00:0.00,0.00:23.39,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:56.6,35.2:0,0:0,0:118,46:31,104:15,23:NR_026567.1(ESPNP) n.899-197A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17029714 rs2773181 G C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.109;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:C,G:9:0:0:0:7,2:192,64:20.45,0.00:0.00,0.00:20.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,56:40.3,27.5:0,0:0,0:89,139:60,11:20,2:NR_026567.1(ESPNP) n.899-247C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17030188 rs474693 T C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:C,T:5:5:0:0:3,2:106,44:10.59,0.00:10.59,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:58.3,11.0:0,0:0,0:70,50:81,100:22,45:NR_026567.1(ESPNP) n.898+250A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17030325 rs601893 A G 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:7,14:214,447:0.00,45.55:0.00,45.55:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.0,56.1:0,0:0,0:29,63:120,88:27,40:-,NR_026567.1(ESPNP) n.898+113T>C:-,NOT_FOUND:-,NOT_FOUND 1 17030336 rs4661915 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:C,T:23:22:0:0:17,6:546,174:0.00,14.53:0.00,14.66:0.00,-0.13:0.00,0.92:0.00,0.99:0.00,0.51:60,60:21.4,69.3:0,0:0,0:16,74:135,77:13,29:-,NR_026567.1(ESPNP) n.898+102G>A:-,NOT_FOUND:-,NOT_FOUND 1 17030504 rs601031 T A 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:75:49:0:0:25,50:804,1567:71.59,0.00:26.99,0.00:44.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:137.7,5.9:0,0:0,0:93,80:54,65:31,24:NR_026567.1(ESPNP) n.832A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17030515 rs201665864 G A 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:48:0:0:25,49:800,1561:71.42,0.00:29.93,0.00:41.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:150.8,5.4:0,0:0,0:90,80:52,67:28,30:NR_026567.1(ESPNP) n.821C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17030518 rs200139772 C T 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:48:0:0:51,24:1688,676:0.00,58.57:0.00,17.37:0.00,41.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,154.8:0,0:0,0:94,88:56,51:26,28:-,NR_026567.1(ESPNP) n.818G>A:-,NOT_FOUND:-,NOT_FOUND 1 17030519 rs201039793 T G 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.954;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:73:47:0:0:23,50:724,1646:63.62,0.00:25.67,0.00:37.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:154.0,8.8:0,0:0,0:94,89:48,56:28,30:NR_026567.1(ESPNP) n.817A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17030590 rs590170 G A 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=1885;PC=0.993;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:33:0:0:17,33:536,1098:47.79,0.00:21.29,0.00:26.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.9,8.0:0,0:0,0:79,68:67,75:26,36:NR_026567.1(ESPNP) n.746C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17030716 rs4661917 G A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,G:15:1:0:0:4,11:121,352:10.24,0.00:-0.13,0.00:10.37,0.00:0.76,0.00:0.51,0.00:0.97,0.00:60,60:39.5,18.0:0,0:0,0:105,98:44,53:24,43:NR_026567.1(ESPNP) n.697-77C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17033758 rs1736691 A G 271 nt VT=SNV;PN=C;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:110:99:0:0:27,83:859,2579:0.00,270.81:0.00,194.45:0.00,76.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,68.3:0,0:0,0:60,37:91,109:37,22:-,NR_026567.1(ESPNP) n.696+25T>C:-,NOT_FOUND:-,NOT_FOUND 1 17033805 rs59259153 C T 106 nt VT=SNV;PN=G;NN=A;SST=Single;DP=156;DB;DBA=NA;PAF=NA;NP=1097;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:133:0:0:115,41:3905,1250:0.00,105.55:0.00,68.52:0.00,37.03:0.00,1.00:0.00,1.00:0.00,1.00:60,52:38.0,84.9:0,0:0,0:58,50:91,96:32,30:-,NR_026567.1(ESPNP) n.674G>A:-,NOT_FOUND:-,NOT_FOUND 1 17033854 rs2476568 C T 506 nt VT=SNV;PN=G;NN=G;SST=Single;DP=192;DB;DBA=NA;PAF=C/0.4894,T/0.5106;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:192:146:0:0:41,151:1343,4773:0.00,505.87:0.00,290.09:0.00,215.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,56.9:0,0:0,0:75,61:76,85:33,33:-,NR_026567.1(ESPNP) n.625G>A:-,NOT_FOUND:-,NOT_FOUND 1 17034041 rs2743505 T C 959 nt VT=SNV;PN=C;NN=C;SST=Single;DP=271;DB;DBA=NA;PAF=T/0.2626,C/0.7374;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:271:189:0:0:1,269,1:12,8323,5:0.07,959.26,0.01:0.00,518.22,0.01:0.07,441.04,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,60,55:80.0,49.3,5.0:0,0,0:0,0,0:10,65,37:141,81,114:0,36,0:NR_026567.1(ESPNP) n.563A>G,NR_026567.1(ESPNP) n.563A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 17034125 rs79472512 C CAGCT 163 nt VT=INS;SST=Single;DP=275;DB;DBA=NA;PAF=C/0.7005,CAGCT/0.2995;DB;DBA=NA;PAF=C/0.7005,CAGCT/0.2995;NP=9;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,CAGCT:275:177:60:0:210,1,4,60:6918,6,130,1968:0.00,-0.35,6.26,163.33:0.00,-0.15,7.02,88.81:0.00,-0.20,-0.76,74.52:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,57,60,60:43.2,60.0,78.8,21.0:1,0,2,0:0,0,0,0:88,123,5,75:60,20,145,75:32,0,4,22:-,NR_026567.1(ESPNP) n.475_478dupAGCT:-,NOT_FOUND:-,NOT_FOUND 1 17034140 rs2988286 C G 169 nt VT=SNV;PN=G;NN=T;SST=Single;DP=255;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:255:162:0:0:191,63,1:6423,2007,34:0.00,169.01,1.16:0.00,72.52,-0.16:0.00,96.49,1.32:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:27.6,83.5,34.0:0,0,0:0,0,0:95,99,91:54,52,60:27,28,0:-,NR_026567.1(ESPNP) n.464G>C:-,0.07:-,NOT_FOUND 1 17034167 rs2988287 G A 136 nt VT=SNV;PN=C;NN=T;SST=Single;DP=226;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:226:137:0:0:54,1,171:1639,11,5367:135.90,-0.24,0.00:66.77,-0.08,0.00:69.13,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:88.6,65.0,25.1:0,0,0:0,0,0:104,60,100:46,73,44:25,0,28:NR_026567.1(ESPNP) n.437C>T,-:0.07,-:NOT_FOUND,- 1 17034232 . A G 17 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=129;NP=1;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G,T:129:69:0:0:110,18,1:3162,310,11:0.00,17.31,-0.28:0.00,-4.22,-0.23:0.00,21.53,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:51.8,135.2,180.0:1,0,0:0,0,0:101,77,123:43,64,25:33,21,0:-,NR_026567.1(ESPNP) n.382-10T>C:-,NOT_FOUND:-,NOT_FOUND 1 17034250 rs61773400 C G 252 nt VT=SNV;PN=G;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=NA;PC=0.044;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:109:60:0:0:28,81:877,2408:0.00,252.32:0.00,130.23:0.00,122.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.2,87.3:0,0:0,0:92,85:56,59:30,34:-,NR_026567.1(ESPNP) n.382-28G>C:-,0.49:-,NOT_FOUND 1 17034285 rs77805593 C G 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.097;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:111:62:0:0:82,29:2360,851:0.00,71.29:0.00,36.55:0.00,34.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.5,102.7:0,0:0,0:61,88:75,62:47,28:-,NR_026567.1(ESPNP) n.382-63G>C:-,0.12:-,NOT_FOUND 1 17034297 rs9728482 G A 67 nt VT=SNV;PN=C;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=NA;PC=0.501;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:109:62:0:0:28,1,80:808,12,2274:67.40,-0.17,0.00:34.36,-0.03,0.00:33.05,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:99.1,157.0,40.3:0,0,0:0,0,0:99,22,65:50,92,82:26,0,40:NR_026567.1(ESPNP) n.382-75C>T,-:0.12,-:NOT_FOUND,- 1 17034455 rs58726851 CGCGCGCGT C 75 nt VT=DEL;SST=Single;DP=220;DB;DBA=NA;PAF=CGCGCGCGT/0.7979,C/0.2021;DB;DBA=NA;PAF=CGCGCGCGT/0.7979,C/0.2021;NP=48;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGCGCGCGT,G,T,C:220:163:0:34:185,1,1,33:5862,11,10,990:0.00,-0.33,-0.35,74.57:0.00,-0.21,-0.21,47.65:0.00,-0.12,-0.14,26.92:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,58,60:11.5,59.0,137.0,11.9:0,0,0,0:0,0,0,0:85,65,56,79:59,86,94,72:35,0,0,27:-,NR_026567.1(ESPNP) n.305_312delACGCGCGC:-,NOT_FOUND:-,NOT_FOUND 1 17034728 rs638298 G C 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:0:0:0:17,7:528,235:54.57,0.00:0.00,0.00:54.57,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:61.6,9.6:0,0:0,0:74,82:77,68:27,15:NR_026567.1(ESPNP) n.195-155C>G,-:0.28,-:NOT_FOUND,- 1 17046361 rs3856291 A T 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=992;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,T:22:22:0:0:18,4:584,137:0.00,11.08:0.00,11.12:0.00,-0.04:0.00,0.70:0.00,0.70:0.00,0.46:60,60:11.8,66.8:0,0:0,0:67,45:82,105:18,20:-,NR_026567.1(ESPNP) n.194+98T>A:-,NOT_FOUND:-,NOT_FOUND 1 17046456 rs3856292 T C 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:45:0:0:16,35:521,1051:45.97,0.00:34.18,0.00:11.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.9,16.8:0,0:0,0:44,45:97,104:18,22:NR_026567.1(ESPNP) n.194+3A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17046549 rs1755332 G A 107 nt VT=SNV;PN=C;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.9968,A/0.003195;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:95:70:0:0:37,57,1:1166,1837,8:106.86,0.00,-0.21:55.10,0.00,-0.07:51.76,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,54:47.6,33.0,105.0:0,0,0:0,0,0:79,57,72:69,92,39:24,28,0:NR_026567.1(ESPNP) n.104C>T,-:0.45,-:NOT_FOUND,- 1 17046595 rs3856293 T C 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=NA;PC=0.995;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:61:0:0:25,72:793,2312:67.21,0.00:18.91,0.00:48.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.9,30.0:0,0:0,0:85,77:63,72:31,33:NR_026567.1(ESPNP) n.58A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17046613 rs3856294 C T 131 nt VT=SNV;PN=G;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.9904,T/0.009585;PC=1.000;Gene=ESPNP/NR_026567.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:92:52:0:0:47,1,44:1601,9,1375:0.00,-0.14,131.10:0.00,-0.00,39.15:0.00,-0.14,91.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.7,231.0,72.7:0,0,0:0,0,0:97,95,84:52,56,55:27,0,28:-,NR_026567.1(ESPNP) n.40G>A:-,NOT_FOUND:-,NOT_FOUND 1 17046698 rs3982089 C G 11 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,G,T:36:10:0:0:30,5,1:900,151,15:0.00,11.26,0.18:0.00,1.73,0.49:0.00,9.53,-0.31:0.00,0.78,0.00:0.00,0.71,0.00:0.00,0.97,0.00:60,60,60:22.2,97.2,73.0:0,0,0:0,0,0:101,147,147:50,4,4:33,3,0:-,NR_026567.1(ESPNP) n.-46G>C:-,NOT_FOUND:-,NOT_FOUND 1 17046796 rs1755333 G A 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.07368,A/0.9263 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:363:42.35:0.00:42.35:1.00:0.00:1.00:60:46.9:0:0:96:55:48:NR_026567.1(ESPNP) n.-144C>T,NR_026567.1(ESPNP) n.-144C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 1 17076425 rs145641680 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:9:9:0:0:3,6:100,173:8.95,0.00:9.04,0.00:-0.09,0.00:0.64,0.00:0.64,0.00:0.56,0.00:27,43:45.3,14.8:0,0:0,0:20,25:131,125:8,3:chr1 g.17076424G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17076539 rs199686708 C T 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:C,T:19:19:0:0:13,6:422,191:0.00,16.81:0.00,15.27:0.00,1.54:0.00,0.94:0.00,0.94:0.00,0.78:42,27:12.3,56.3:0,0:0,0:95,123:55,28:22,18:-,chr1 g.17076538C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17076662 . C T 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;NP=118 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:11:2:0:0:7,4:228,105:0.00,9.27:0.00,-0.39:0.00,9.66:0.00,0.82:0.00,0.66:0.00,0.97:27,27:27.4,67.8:0,0:0,0:64,66:87,84:23,25:-,chr1 g.17076661C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17076673 rs373723224 G T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=97;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:G,T:12:2:0:0:9,3:239,90:0.00,7.50:0.00,2.75:0.00,4.75:0.00,0.59:0.00,0.53:0.00,0.91:27,27:47.4,54.3:0,0:0,0:64,14:87,137:24,5:-,chr1 g.17076672G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17076752 rs200840690 C G 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=5;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:7:0:0:10,8:312,270:0.00,25.46:0.00,9.15:0.00,16.31:0.00,0.99:0.00,0.97:0.00,1.00:27,27:50.3,66.4:0,0:0,0:48,72:103,78:36,54:-,chr1 g.17076751C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17076795 rs369321108 T C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=267;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:C,T:26:17:0:0:6,20:188,606:15.57,0.00:7.43,0.00:8.14,0.00:0.91,0.00:0.97,0.00:0.87,0.00:27,27:66.5,51.4:0,0:0,0:57,43:93,108:39,16:chr1 g.17076794T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17076812 rs374717165 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=206;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:32:24:0:0:27,5:748,165:0.00,12.88:0.00,7.27:0.00,5.61:0.00,0.79:0.00,0.95:0.00,0.70:27,27:55.6,70.8:0,0:0,0:54,49:97,102:32,10:-,chr1 g.17076811C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17076849 . G A 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;NP=19;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:38:0:0:13,29:379,744:32.85,0.00:30.86,0.00:1.99,0.00:1.00,0.00:1.00,0.00:0.78,0.00:27,27:55.9,32.8:0,0:0,0:45,52:106,99:30,32:chr1 g.17076848G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17076902 . C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;NP=4;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,T:49:47:0:0:44,5:1399,160:0.00,11.38:0.00,11.48:0.00,-0.09:0.00,0.73:0.00,0.97:0.00,0.33:27,27:29.3,48.0:0,0:0,0:77,28:73,120:27,19:-,chr1 g.17076901C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17076907 . G A 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;NP=5;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:49:47:0:0:6,43:180,1335:12.97,0.00:13.09,0.00:-0.11,0.00:0.85,0.00:0.99,0.00:0.36,0.00:27,27:51.3,26.8:0,0:0,0:56,79:95,72:10,26:chr1 g.17076906G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17077074 . G A 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=102;NP=26;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,G,T:102:65:0:0:8,93,1:252,3051,10:16.89,0.00,-0.31:5.11,0.00,-0.21:11.78,0.00,-0.09:0.91,0.00,0.00:0.97,0.00,0.00:0.97,0.00,0.00:27,42,27:37.6,16.0,52.0:0,0,0:0,0,0:42,48,40:108,101,110:19,25,0:chr1 g.17077073G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17077196 rs373381630 G T 144 nt VT=SNV;PN=A;NN=T;SST=Single;DP=157;DB;DBA=NA;PAF=NA;NP=516;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:157:97:0:0:103,54:3455,1622:0.00,144.02:0.00,75.64:0.00,68.38:0.00,1.00:0.00,1.00:0.00,1.00:43,42:15.1,39.8:0,0:0,0:85,73:66,77:30,23:-,chr1 g.17077195G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17077242 rs200157489 G C 45 nt VT=SNV;PN=T;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.6392,C/0.3608;NP=364 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:122:76:0:0:19,103:593,3313:45.47,0.00:16.89,0.00:28.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:27,42:34.3,19.1:0,0:0,0:100,108:50,43:32,19:chr1 g.17077241G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17077343 . C T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=76;NP=9;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:76:1:0:0:68,8:2253,236:0.00,16.33:0.00,-0.05:0.00,16.38:0.00,0.94:0.00,0.40:0.00,1.00:27,27:23.4,43.2:0,0:0,0:115,99:36,52:30,12:-,chr1 g.17077342C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17077359 rs200904662 A G 54 nt VT=SNV;PN=A;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=139;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:1:0:0:41,18:1179,609:0.00,53.76:0.00,-0.16:0.00,53.92:0.00,1.00:0.00,0.54:0.00,1.00:27,27:28.1,36.8:0,0:0,0:117,85:34,66:23,31:-,chr1 g.17077358A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17077360 rs374820415 C G 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=162;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:59:1:0:0:46,13:1382,434:0.00,36.10:0.00,3.22:0.00,32.88:0.00,1.00:0.00,0.48:0.00,1.00:27,27:25.7,48.8:0,0:0,0:117,77:33,74:27,51:-,chr1 g.17077359C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17077428 . A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;NP=25;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,G:25:2:0:0:19,6:663,189:0.00,15.78:0.00,-0.24:0.00,16.02:0.00,0.92:0.00,0.52:0.00,0.99:27,27:30.5,65.3:0,0:0,0:89,92:61,57:33,13:-,chr1 g.17077427A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17083374 rs1759200 A C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=352;Gene=MST1L/NM_001271733.1/1;CC=c.*353T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C:8:8:0:0:5,3:158,94:0.00,8.53:0.00,8.53:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:40,27:35.4,114.0:0,0:0,0:47,16:104,135:34,11:-,NR_002729.2(MST1L) n.2423T>G:-,NOT_FOUND:-,NOT_FOUND 1 17083434 rs1759199 G T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=135;Gene=MST1L/NM_001271733.1/1;CC=c.*293C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:G,T:14:14:0:0:10,4:330,112:0.00,9.46:0.00,9.46:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:55,27:28.5,99.5:0,0:0,0:59,70:92,80:42,8:-,NR_002729.2(MST1L) n.2363C>A:-,NOT_FOUND:-,NOT_FOUND 1 17083568 rs10159208 G A 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=MST1L/NM_001271733.1/1;CC=c.*159C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:60:0:0:11,49:348,1550:27.66,0.00:27.66,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:58.2,22.3:0,0:0,0:61,46:88,105:39,30:NR_002729.2(MST1L) n.2229C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083577 rs2610655 C T 16 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=34;Gene=MST1L/NM_001271733.1/1;CC=c.*150G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,T:70:70:0:0:62,8:2043,226:0.00,15.68:0.00,15.68:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,57:28.5,92.1:0,0:0,0:50,3:99,147:31,3:-,NR_002729.2(MST1L) n.2220G>A:-,NOT_FOUND:-,NOT_FOUND 1 17083597 rs186155999 G A 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=145;Gene=MST1L/NM_001271733.1/1;CC=c.*130C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:102:101:0:0:20,82:632,2379:50.87,0.00:49.48,0.00:1.39,0.00:1.00,0.00:1.00,0.00:0.52,0.00:49,60:87.5,31.5:0,0:0,0:14,43:137,107:6,29:NR_002729.2(MST1L) n.2200C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083652 rs113710576 C T 349 nt VT=SNV;PN=C;NN=T;SST=Single;DP=280;DB;DBA=NA;PAF=NA;NP=2190;PC=0.270;Gene=MST1L/NM_001271733.1/1;CC=c.*75G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:280:263:0:0:1,165,114:14,5198,3766:-0.18,0.00,348.98:-0.14,0.00,297.90:-0.04,0.00,51.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:55,60,51:14.0,39.6,55.8:0,0,0:0,0,0:141,36,33:9,113,117:0,21,13:-,NR_002729.2(MST1L) n.2145G>A:-,NOT_FOUND:-,NOT_FOUND 1 17083671 rs1057420 C G 177 nt VT=SNV;PN=C;NN=T;SST=Single;DP=281;DB;DBA=NA;PAF=NA;NP=2558;PC=0.722;Gene=MST1L/NM_001271733.1/1;CC=c.*56G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:281:258:0:0:211,69,1:6661,2124,11:0.00,177.47,-0.31:0.00,121.86,-0.24:0.00,55.60,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:37.1,78.9,123.0:0,0,0:0,0,0:50,45,118:98,106,32:18,17,0:-,NR_002729.2(MST1L) n.2126G>C:-,NOT_FOUND:-,NOT_FOUND 1 17083685 rs3197973 C A 194 nt VT=SNV;PN=A;NN=A;SST=Single;DP=281;DB;DBA=NA;PAF=NA;PC=0.851;Gene=MST1L/NM_001271733.1/1;CC=c.*42G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:281:250:0:0:71,210:2291,6988:194.04,0.00:129.34,0.00:64.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:82.9,40.7:0,0:0,0:63,61:86,89:20,18:NR_002729.2(MST1L) n.2112G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083776 rs56318124 C A 237 lc VT=SNV;PN=A;NN=G;SST=Single;DP=207;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.2021G>T;ProtCh=p.R674L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:207:85:0:0:83,124:2581,3820:237.07,0.00:85.71,0.00:151.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,50:100.0,55.1:0,0:0,0:126,116:25,32:17,24:NR_002729.2(MST1L) n.2021G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083778 rs28455793 C T 110 lc VT=SNV;PN=G;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.2019G>A;ProtCh=p.T673=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:204:83:0:0:2,160,42:24,4736,1342:-0.38,0.00,109.52:-0.10,0.00,15.60:-0.28,0.00,93.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,50,42:170.5,77.9,61.5:0,0,0:0,0,0:83,123,109:67,26,38:53,21,23:-,NR_002729.2(MST1L) n.2019G>A:-,NOT_FOUND:-,NOT_FOUND 1 17083807 rs1057346 T C 482 lc VT=SNV;PN=G;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=T/0.3103,A/.,C/0.6897;NP=2409;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1990A>G;ProtCh=p.T664A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:143:16:0:0:2,137,2,2:20,4216,23,16:0.26,481.74,0.40,0.00:0.13,47.20,0.10,0.00:0.13,434.54,0.30,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:27,40,40,43:157.0,103.1,173.0,109.0:0,0,0,0:0,0,0,0:19,72,47,75:130,79,98,75:0,47,41,14:NR_002729.2(MST1L) n.1990A>G,NR_002729.2(MST1L) n.1990A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17083808 rs140260478 G A 182 lc VT=SNV;PN=T;NN=C;SST=Single;DP=146;DB;DBA=NA;PAF=G/0.9415,A/0.05851;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1989C>T;ProtCh=p.C663=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:146:18:0:0:64,2,80:1948,22,2605:182.36,-0.15,0.00:27.57,0.31,0.00:154.79,-0.45,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,27,40:142.1,216.5,75.0:0,0,0:0,0,0:63,61,70:87,75,80:42,28,46:NR_002729.2(MST1L) n.1989C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083816 rs11260920 G A 224 lc VT=SNV;PN=C;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1981C>T;ProtCh=p.R661*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:156:32:0:0:75,81:2353,2428:224.08,0.00:48.60,0.00:175.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,40:139.1,77.2:0,0:0,0:41,53:108,96:33,41:NR_002729.2(MST1L) n.1981C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083872 rs61635893 G A 145 lc VT=SNV;PN=T;NN=G;SST=Single;DP=237;DB;DBA=NA;PAF=NA;NP=965;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1925C>T;ProtCh=p.P642L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:237:126:0:0:57,179,1:1747,5448,10:145.33,0.00,-0.27:74.54,0.00,-0.16:70.79,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,44,27:83.2,95.4,207.0:0,0,0:0,0,0:54,52,84:95,95,67:21,29,0:NR_002729.2(MST1L) n.1925C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083888 rs75141545 C T 412 nt VT=SNV;PN=C;NN=C;SST=Single;DP=251;DB;DBA=NA;PAF=NA;NP=1401;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1909G>A;ProtCh=p.G637S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:251:143:0:0:116,135:3424,4230:0.00,412.15:0.00,227.52:0.00,184.63:0.00,1.00:0.00,1.00:0.00,1.00:44,44:85.1,99.5:0,0:0,0:63,62:84,87:24,27:-,NR_002729.2(MST1L) n.1909G>A:-,NOT_FOUND:-,NOT_FOUND 1 17083889 . C . . NT END=17084012;NT GT ./. 1 17083919 rs143067724 G A 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=292;DB;DBA=NA;PAF=NA;Gene=MST1L/NM_001271733.1/1;CC=c.1909-31C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:292:196:0:0:34,257,1:1046,7425,12:75.50,0.00,-0.28:39.49,0.00,-0.17:36.01,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,44,27:123.6,83.9,108.0:0,0,0:0,0,0:90,74,114:57,77,33:39,33,0:NR_002729.2(MST1L) n.1909-31C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17083929 rs138589297 A C 1008 nt VT=SNV;PN=C;NN=A;SST=Single;DP=280;DB;DBA=NA;PAF=NA;NP=2104;PC=0.004;Gene=MST1L/NM_001271733.1/1;CC=c.1909-41T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:280:190:0:0:1,278,1:10,8783,5:0.00,1008.19,0.01:0.00,684.52,0.01:0.00,323.68,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,42,25:27.0,87.9,112.0:0,0,0:0,0,0:17,78,80:134,73,71:0,34,0:NR_002729.2(MST1L) n.1909-41T>G,NR_002729.2(MST1L) n.1909-41T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17083984 rs71269410 C T 89 nt VT=SNV;PN=C;NN=A;SST=Single;DP=395;DB;DBA=NA;PAF=NA;PC=0.065;Gene=MST1L/NM_001271733.1/1;CC=c.1908+29G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:395:327:0:0:353,2,40:11065,30,1261:0.00,-0.07,89.35:0.00,0.12,86.07:0.00,-0.19,3.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:44,27,42:59.2,159.5,91.0:0,0,0:0,0,0:43,78,45:107,59,106:32,38,30:-,NR_002729.2(MST1L) n.1908+29G>A:-,NOT_FOUND:-,NOT_FOUND 1 17084006 rs2446544 C T 1381 nt VT=SNV;PN=C;NN=A;SST=Single;DP=450;DB;DBA=NA;PAF=NA;NP=3224;PC=0.742;Gene=MST1L/NM_001271733.1/1;CC=c.1908+7G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:450:365:0:0:1,57,1,391:22,1769,5,12691:0.24,0.00,-0.04,1380.95:-0.04,0.00,-0.03,975.68:0.27,0.00,-0.01,405.27:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:3,43,27,44:125.0,18.5,57.0,63.2:0,0,0,0:0,0,0,0:106,39,67,49:10,111,84,99:0,24,0,27:-,NR_002729.2(MST1L) n.1908+7G>A:-,NOT_FOUND:-,NOT_FOUND 1 17084021 rs2446543 C G 80 lc VT=SNV;PN=G;NN=C;SST=Single;DP=473;DB;DBA=NA;PAF=NA;PC=0.997;Gene=MST1L/NM_001271733.1/1;CC=c.1900G>C;ProtCh=p.A634P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,G:473:372:0:0:436,37:14438,1186:0.00,80.16:0.00,52.28:0.00,27.88:0.00,1.00:0.00,1.00:0.00,1.00:44,43:47.5,77.1:0,0:0,0:54,47:96,102:27,24:-,NR_002729.2(MST1L) n.1900G>C:-,NOT_FOUND:-,NOT_FOUND 1 17084066 rs201206414 G A 273 lc VT=SNV;PN=C;NN=C;SST=Single;DP=581;DB;DBA=NA;PAF=NA;NP=135;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1855C>T;ProtCh=p.R619W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:581:407:0:0:105,2,472,2:3411,21,14916,25:272.52,-0.53,0.00,-0.49:134.40,-0.24,0.00,-0.33:138.12,-0.29,0.00,-0.16:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,39,44,27:53.1,84.5,25.5,74.5:0,0,0,0:0,0,0,0:64,64,62,18:82,84,85,132:35,59,28,16:NR_002729.2(MST1L) n.1855C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17084153 . C . . NT END=17084248;NT GT ./. 1 17084304 . C T 150 lc VT=SNV;PN=A;NN=C;SST=Single;DP=547;NP=1815;NP=4;PC=0.997;Gene=MST1L/NM_001271733.1/1;CC=c.1713G>A;ProtCh=p.W571*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:547:356:0:0:3,473,3,68:28,15091,32,2057:-0.89,0.00,-0.84,149.66:-0.48,0.00,-0.43,23.23:-0.42,0.00,-0.40,126.43:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:49,60,27,41:155.3,8.3,145.7,40.7:0,0,0,0:0,0,0,0:78,70,120,121:72,74,30,29:5,35,1,18:-,NR_002729.2(MST1L) n.1713G>A:-,NOT_FOUND:-,NOT_FOUND 1 17084356 . C . . NT END=17084436;NT GT ./. 1 17084415 rs200535426 T C 116 nt VT=SNV;PN=A;NN=C;SST=Single;DP=567;DB;DBA=NA;PAF=NA;Gene=MST1L/NM_001271733.1/1;CC=c.1661+22A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:567:401:0:0:56,3,508:1682,28,15733:116.17,-0.97,0.00:75.38,-0.62,0.00:40.78,-0.35,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:41,46,60:43.0,59.0,10.8:0,0,0:0,0,0:32,38,68:118,108,79:17,27,34:NR_002729.2(MST1L) n.1661+22A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17084510 rs11260921 G A 162 lc VT=SNV;PN=A;NN=G;SST=Single;DP=648;DB;DBA=NA;PAF=NA;PC=0.491;Gene=MST1L/NM_001271733.1/1;CC=c.1588C>T;ProtCh=p.L530=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:648:366:0:0:67,2,579:2230,10,18745:161.64,-0.74,0.00:36.26,-0.28,0.00:125.37,-0.46,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,45,60:51.4,115.5,12.4:0,0,0:0,0,0:91,105,86:52,46,61:33,24,27:NR_002729.2(MST1L) n.1588C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17084536 rs142741624 TGGAACA T 94 lc VT=DEL;SST=Single;DP=545;DB;DBA=NA;PAF=NA;NP=316;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1556_1561delTGTTCC;ProtCh=p.L519_F520del;VC=InFrameDel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,G,TGGAACA,T:545:273:0:45:1,2,497,45:24,19,16697,1396:-0.03,-0.78,0.00,93.94:-0.14,-0.26,0.00,13.25:0.11,-0.51,0.00,80.69:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:42,43,60,60:50.0,113.5,12.4,54.2:0,0,0,0:0,0,0,0:6,68,95,101:145,78,53,48:0,29,22,24:-,NR_002729.2(MST1L) n.1556_1561delTGTTCC:-,NOT_FOUND:-,NOT_FOUND 1 17084584 . C . . NT END=17084960;NT GT ./. 1 17084589 rs201329117 A T 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=380;DB;DBA=NA;PAF=NA;PC=0.027;Gene=MST1L/NM_001271733.1/1;CC=c.1515-6T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:380:118:0:0:343,37:11335,1187:0.00,83.77:0.00,5.47:0.00,78.31:0.00,1.00:0.00,1.00:0.00,1.00:43,43:16.6,69.9:0,0:0,0:109,94:42,55:27,32:-,NR_002729.2(MST1L) n.1515-6T>A:-,NOT_FOUND:-,NOT_FOUND 1 17084626 rs3981967 G A 103 nt VT=SNV;PN=C;NN=T;SST=Single;DP=241;DB;DBA=NA;PAF=NA;PC=0.073;Gene=MST1L/NM_001271733.1/1;CC=c.1515-43C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:241:62:0:0:43,1,196,1:1316,12,6250,8:103.31,-0.27,0.00,-0.32:22.50,-0.08,0.00,-0.05:80.80,-0.19,0.00,-0.26:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:31,40,43,25:49.9,66.0,24.1,140.0:0,0,0,0:0,0,0,0:123,15,100,88:28,135,48,59:18,0,31,0:NR_002729.2(MST1L) n.1515-43C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17084670 rs199536872 A G 322 nt VT=SNV;PN=A;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=NA;NP=561;PC=0.170;Gene=MST1L/NM_001271733.1/1;CC=c.1515-87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:162:70:0:0:60,101,1:1911,3203,10:0.00,322.26,-0.09:0.00,113.11,0.00:0.00,209.15,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,43,25:21.5,43.0,140.0:0,0,0:0,0,0:103,73,132:47,78,15:39,36,0:-,NR_002729.2(MST1L) n.1515-87T>C:-,NOT_FOUND:-,NOT_FOUND 1 17084755 rs140682808 T C 149 nt VT=SNV;PN=T;NN=A;SST=Single;DP=140;DB;DBA=NA;PAF=NA;NP=1770;PC=0.807;Gene=MST1L/NM_001271733.1/1;CC=c.1515-172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:140:86:0:0:1,50,89:7,1642,2798:-0.24,148.63,0.00:-0.10,78.65,0.00:-0.14,69.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:41,43,55:68.0,64.9,39.3:0,0,0:0,0,0:34,79,80:117,71,71:0,34,40:NR_002729.2(MST1L) n.1515-172A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17084768 . G C 27 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=150;NP=7;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1515-185C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,G:150:100:0:0:13,137:400,4334:27.02,0.00:24.60,0.00:2.43,0.00:1.00,0.00:1.00,0.00:0.99,0.00:27,55:63.4,47.7:0,0:0,0:6,71:143,73:3,34:NR_002729.2(MST1L) n.1515-185C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17084815 rs11260922 G A 446 nt VT=SNV;PN=G;NN=A;SST=Single;DP=204;DB;DBA=NA;PAF=G/0.4083,A/0.5917;NP=3002;PC=0.842;Gene=MST1L/NM_001271733.1/1;CC=c.1514+146C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:204:157:0:0:140,2,62:4335,22,1983:445.89,-0.01,0.00:284.42,-0.15,0.00:161.47,0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:53,40,41:48.6,68.5,24.8:0,0,0:0,0,0:81,51,28:70,92,121:40,9,15:NR_002729.2(MST1L) n.1514+146C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17084948 rs199741699 A C 188 nt VT=SNV;PN=C;NN=G;SST=Single;DP=937;DB;DBA=NA;PAF=NA;PC=0.261;Gene=MST1L/NM_001271733.1/1;CC=c.1514+13T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:937:793:0:0:849,88:28321,2720:0.00,187.70:0.00,129.35:0.00,58.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.3,38.1:0,0:0,0:52,50:94,99:29,22:-,NR_002729.2(MST1L) n.1514+13T>G:-,NOT_FOUND:-,NOT_FOUND 1 17084968 rs2761533 G C 1875 lc VT=SNV;PN=C;NN=C;SST=Single;DP=1045;DB;DBA=NA;PAF=NA;NP=3217;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1507C>G;ProtCh=p.R503G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:1045:865:0:0:2,596,447:40,18999,14247:0.40,1875.12,0.00:0.53,1222.11,0.00:-0.13,653.01,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,56,60:36.5,38.4,13.2:0,0,0:0,0,0:58,56,62:92,88,84:34,27,31:NR_002729.2(MST1L) n.1507C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17085082 . C . . NT END=17085297;NT GT ./. 1 17085165 rs2490828 G C 1317 nt VT=SNV;PN=C;NN=T;SST=Single;DP=357;DB;DBA=NA;PAF=NA;PC=0.994;Gene=MST1L/NM_001271733.1/1;CC=c.1394-84C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:357:111:0:0:1,354,1,1:29,11517,22,14:0.91,1316.86,0.00,0.08:0.91,342.47,0.00,0.08:0.00,974.39,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:7,59,9,25:210.0,48.6,194.0,14.0:0,0,0,0:0,0,0,0:21,79,18,149:130,71,133,2:0,31,0,0:NR_002729.2(MST1L) n.1394-84C>G,NR_002729.2(MST1L) n.1394-84C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 17085171 rs3982157 T TGG 109 nt VT=INS;SST=Single;DP=340;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.979;Gene=MST1L/NM_001271733.1/1;CC=c.1394-92_1394-91dupCC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,TGG,D:339:112:69:1:3,1,266,68,1:30,29,8518,1494,30:-0.76,0.56,0.00,109.03,0.65:-0.34,0.80,0.00,6.65,0.89:-0.42,-0.24,0.00,102.38,-0.24:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:25,25,59,40,60:172.7,131.0,46.6,55.1,0.0:1,0,3,1,0:0,0,0,0,0:99,0,82,77,5:29,151,67,74,144:11,0,30,18,0:-,NR_002729.2(MST1L) n.1394-91_1394-90insCC:-,NOT_FOUND:-,NOT_FOUND 1 17085255 rs2281029 A G 148 nt VT=SNV;PN=G;NN=G;SST=Single;DP=277;DB;DBA=NA;PAF=A/0.5913,G/0.4087;Gene=MST1L/NM_001271733.1/1;CC=c.1393+43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:277:135:0:0:215,62:6867,1827:0.00,148.40:0.00,37.31:0.00,111.08:0.00,1.00:0.00,1.00:0.00,1.00:60,40:29.2,107.0:0,0:0,0:80,111:68,23:38,35:-,NR_002729.2(MST1L) n.1393+43T>C:-,NOT_FOUND:-,NOT_FOUND 1 17085265 rs2490829 T C 165 nt VT=SNV;PN=G;NN=A;SST=Single;DP=241;DB;DBA=NA;PAF=T/0.3121,A/.,C/0.6879,G/.;Gene=MST1L/NM_001271733.1/1;CC=c.1393+33A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:241:133:0:0:2,62,1,176:24,1950,10,5216:-0.35,165.37,-0.26,0.00:-0.14,80.58,-0.11,0.00:-0.21,84.79,-0.16,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,43,42,60:117.0,105.5,20.0,18.4:0,0,0,0:0,0,0,0:65,82,8,74:86,69,143,75:9,26,0,37:NR_002729.2(MST1L) n.1393+33A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17085267 rs2077142 A G 170 nt VT=SNV;PN=A;NN=G;SST=Single;DP=243;DB;DBA=NA;PAF=A/0.3133,G/0.6867,T/.;Gene=MST1L/NM_001271733.1/1;CC=c.1393+31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:243:133:0:0:178,65:5760,2003:0.00,170.04:0.00,88.02:0.00,82.03:0.00,1.00:0.00,1.00:0.00,1.00:60,40:18.0,99.4:0,0:0,0:74,82:76,69:38,24:-,NR_002729.2(MST1L) n.1393+31T>C:-,NOT_FOUND:-,NOT_FOUND 1 17085412 rs872964 C T 1083 lc VT=SNV;PN=G;NN=G;SST=Single;DP=598;DB;DBA=NA;PAF=C/0.5401,T/0.4599;NP=3134;PC=0.516;Gene=MST1L/NM_001271733.1/1;CC=c.1279G>A;ProtCh=p.A427T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:598:446:0:0:254,1,343:8037,11,10963:0.00,-0.19,1083.14:0.00,-0.11,685.95:0.00,-0.08,397.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,3,51:38.6,124.0,78.3:0,0,0:0,0,0:86,93,60:60,57,85:38,0,30:-,NR_002729.2(MST1L) n.1279G>A:-,NOT_FOUND:-,NOT_FOUND 1 17085427 rs2002186 T C 1897 lc VT=SNV;PN=A;NN=G;SST=Single;DP=628;DB;DBA=NA;PAF=NA;PC=0.997;Gene=MST1L/NM_001271733.1/1;CC=c.1264A>G;ProtCh=p.I422V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:628:454:0:0:1,551,76:11,17353,2392:-0.04,1896.61,0.00:-0.03,1160.92,0.00:-0.00,735.69,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,52,60:135.0,72.3,24.5:0,0,0:0,0,0:56,73,66:95,74,82:0,33,42:NR_002729.2(MST1L) n.1264A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17085502 rs2329006 T C 869 lc VT=SNV;PN=A;NN=C;SST=Single;DP=688;DB;DBA=NA;PAF=NA;PC=0.565;Gene=MST1L/NM_001271733.1/1;CC=c.1189A>G;ProtCh=p.M397V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:688:481:0:0:300,2,386:9304,23,11746:869.14,-0.41,0.00:499.11,-0.27,0.00:370.03,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,54:55.3,98.5,77.8:0,0,0:0,0,0:77,63,70:73,84,78:38,52,37:NR_002729.2(MST1L) n.1189A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17085531 . C . . NT END=17085560;NT GT ./. 1 17085542 rs2261754 G A 1053 nt VT=SNV;PN=C;NN=G;SST=Single;DP=772;DB;DBA=NA;PAF=NA;NP=2248;PC=0.270;Gene=MST1L/NM_001271733.1/1;CC=c.1161-12C>T;VC=Intron;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:772:533:0:0:343,3,426:11180,24,12767:1052.52,-0.65,0.00:614.85,-0.32,0.00:437.67,-0.33,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,45,60:89.4,115.0,36.2:0,0,0:0,0,0:59,96,51:92,55,97:37,39,34:NR_002729.2(MST1L) n.1161-12C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17085564 rs3851921 A G 1478 lc VT=SNV;PN=C;NN=G;SST=Single;DP=829;DB;DBA=NA;PAF=NA;NP=2599;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1157T>C;ProtCh=p.L386P;VC=Missense;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:829:580:0:0:338,1,489,1:11088,6,14883,11:0.00,-0.14,1477.63,-0.13:0.00,-0.08,800.27,-0.08:0.00,-0.06,677.35,-0.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,13,52,40:22.1,213.0,81.4,113.0:0,0,0,0:0,0,0,0:48,114,55,73:99,28,96,71:30,0,33,0:-,NR_002729.2(MST1L) n.1157T>C:-,NOT_FOUND:-,NOT_FOUND 1 17085589 rs371449598 AGCGCTG A 526 lc VT=DEL;SST=Single;DP=859;DB;DBA=NA;PAF=NA;NP=20;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1126_1131delCAGCGC;ProtCh=p.Q376_R377del;VC=InFrameDel;DM=MST1L/Kringle;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGCGCTG,C,T,A:859:581:0:234:624,1,1,233:20542,6,11,6329:0.00,-0.27,-0.26,526.01:0.00,-0.14,-0.14,288.54:0.00,-0.12,-0.11,237.47:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,13,39,43:41.0,165.0,166.0,93.3:0,0,0,0:0,0,0,0:61,27,35,65:87,124,116,82:28,0,0,30:-,NR_002729.2(MST1L) n.1126_1131delCAGCGC:-,NOT_FOUND:-,NOT_FOUND 1 17085664 . C . . NT END=17085763;NT GT ./. 1 17085671 rs3863806 C G 1477 nt VT=SNV;PN=C;NN=G;SST=Single;DP=926;DB;DBA=NA;PAF=NA;NP=1867;PC=0.945;Gene=MST1L/NM_001271733.1/1;CC=c.1058-8G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:926:566:0:0:1,435,489,1:20,13049,15211,12:-0.08,0.00,1476.92,-0.17:-0.10,0.00,537.61,-0.10:0.02,0.00,939.30,-0.07:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:7,60,51,42:122.0,11.2,105.3,57.0:0,0,0,0:0,0,0,0:57,88,76,20:94,57,69,131:0,38,39,0:-,NR_002729.2(MST1L) n.1058-8G>C:-,NOT_FOUND:-,NOT_FOUND 1 17085677 rs3863805 G A 1259 nt VT=SNV;PN=C;NN=G;SST=Single;DP=905;DB;DBA=NA;PAF=NA;PC=0.956;Gene=MST1L/NM_001271733.1/1;CC=c.1058-14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:905:541:0:0:402,2,500,1:13358,12,14806,12:1258.84,-0.42,0.00,-0.20:440.53,-0.21,0.00,-0.09:818.31,-0.21,0.00,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:52,31,60,51:116.6,102.5,18.0,62.0:0,0,0,0:0,0,0,0:71,84,77,112:77,67,70,39:38,55,41,0:NR_002729.2(MST1L) n.1058-14C>T,-:0.24,-:NOT_FOUND,- 1 17085700 . C G 168 nt VT=SNV;PN=T;NN=G;SST=Single;DP=865;NP=3;PC=0.004;Gene=MST1L/NM_001271733.1/1;CC=c.1058-37G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:865:503:0:0:2,788,75:23,24717,2426:-0.62,0.00,168.02:-0.29,0.00,45.80:-0.33,0.00,122.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,60,52:55.5,55.6,133.5:0,0,0:0,0,0:66,80,77:85,69,73:28,37,36:-,NR_002729.2(MST1L) n.1058-37G>C:-,NOT_FOUND:-,NOT_FOUND 1 17085712 rs3863803 C T 1204 nt VT=SNV;PN=T;NN=C;SST=Single;DP=840;DB;DBA=NA;PAF=NA;PC=0.107;Gene=MST1L/NM_001271733.1/1;CC=c.1058-49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:840:473:0:0:445,395:14129,12674:0.00,1203.58:0.00,329.79:0.00,873.79:0.00,1.00:0.00,1.00:0.00,1.00:55,52:20.5,110.5:0,0:0,0:81,72:68,79:36,37:-,NR_002729.2(MST1L) n.1058-49G>A:-,0.31:-,NOT_FOUND 1 17085795 rs1057379 G T 618 lc VT=SNV;PN=G;NN=A;SST=Single;DP=651;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.1026C>A;ProtCh=p.I342=;VC=Silent;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:651:332:0:0:1,426,224:8,13715,6930:-0.36,0.00,618.02:-0.17,0.00,95.76:-0.19,0.00,522.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,58,52:86.0,37.5,108.6:0,0,0:0,0,0:104,70,112:47,78,35:0,36,17:-,NR_002729.2(MST1L) n.1026C>A:-,NOT_FOUND:-,NOT_FOUND 1 17085834 rs2005622 G T 1805 lc VT=SNV;PN=G;NN=G;SST=Single;DP=501;DB;DBA=NA;PAF=NA;PC=0.995;Gene=MST1L/NM_001271733.1/1;CC=c.987C>A;ProtCh=p.T329=;VC=Silent;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:501:261:0:0:1,1,2,497:15,5,32,15737:0.07,0.00,0.00,1804.64:0.00,0.00,0.00,715.65:0.07,0.00,0.00,1088.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:57,57,51,60:41.0,85.0,133.5,57.1:0,0,0,0:0,0,0,0:4,104,106,96:147,47,29,52:0,0,15,36:NR_002729.2(MST1L) n.987C>A,NR_002729.2(MST1L) n.987C>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 17085895 . C . . NT END=17085970;NT GT ./. 1 17085908 rs1805293 C G 440 nt VT=SNV;PN=T;NN=C;SST=Single;DP=421;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MST1L/NM_001271733.1/1;CC=c.927-14G>C;VC=Intron;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:421:263:0:0:1,276,144:7,8636,4880:-0.23,0.00,439.54:-0.11,0.00,189.45:-0.12,0.00,250.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:44,60,56:124.0,28.0,63.5:0,0,0:0,0,0:47,68,63:104,75,86:0,34,36:-,NR_002729.2(MST1L) n.927-14G>C:-,0.27:-,NOT_FOUND 1 17085995 rs528252461 G GC 218 rn VT=INS;SST=Single;DP=260;DB;DBA=NA;PAF=G/0.9469,GC/0.05312,GCC/.;NP=44;Gene=MST1L/NM_001271733.1/1;CC=c.901dupG;ProtCh=p.A301Gfs*81;VC=FrameShiftIns;DM=MST1L/Kringle;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,GC:256:65:88:0:1,16,155,84:11,273,4735,2551:-0.21,12.74,0.00,218.31:0.01,12.57,0.00,22.50:-0.23,0.17,0.00,195.81:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:5,55,60,59:84.0,32.2,44.7,29.6:0,1,3,4:0,0,0,0:100,111,100,99:8,8,47,49:0,13,29,26:-,NR_002729.2(MST1L) n.901dupG:-,NOT_FOUND:-,NOT_FOUND 1 17086052 rs1057286 T C 535 lc VT=SNV;PN=G;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=NA;PC=0.989;Gene=MST1L/NM_001271733.1/1;CC=c.845A>G;ProtCh=p.H282R;VC=Missense;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:162:7:0:0:160,2:4604,24:535.13,0.37:11.46,0.37:523.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,50:43.3,65.0:0,0:0,0:114,137:33,14:22,10:NR_002729.2(MST1L) n.845A>G,NR_002729.2(MST1L) n.845A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 17086085 rs200532237 G GC 250 lc VT=INS;SST=Single;DP=155;DB;DBA=NA;PAF=NA;NP=32;PC=0.997;Gene=MST1L/NM_001271733.1/1;CC=c.811dupG;ProtCh=p.A271Gfs*26;VC=FrameShiftIns;DM=MST1L/Kringle;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GC:155:56:133:0:7,15,133:182,464,2186:11.99,0.00,250.11:9.56,0.00,64.60:2.43,0.00,185.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:41,49,42:42.6,41.3,26.3:1,1,0:0,0,0:0,145,79:151,3,71:0,3,54:-,NR_002729.2(MST1L) n.811dupG:-,NOT_FOUND:-,NOT_FOUND 1 17086182 . C . . NT END=17086383;NT GT ./. 1 17086236 rs61769737 G C 134 nt VT=SNV;PN=G;NN=C;SST=Single;DP=277;DB;DBA=NA;PAF=NA;NP=283;PC=0.062;Gene=MST1L/NM_001271733.1/1;CC=c.716-55C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:277:138:0:0:54,221,2:1671,7206,20:133.82,0.00,-0.53:45.04,0.00,-0.23:88.77,0.00,-0.30:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,44,43:42.0,13.5,141.5:0,0,0:0,0,0:113,106,110:33,43,33:22,24,3:NR_002729.2(MST1L) n.716-55C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17086311 rs61769739 G T 95 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.7442,T/0.2558;NP=20;PC=0.438;Gene=MST1L/NM_001271733.1/1;CC=c.715+73C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:119:57:0:1:1,80,38:11,2551,1091:-0.17,0.00,95.01:-0.13,0.00,35.25:-0.04,0.00,59.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,44,43:22.0,14.1,40.7:0,0,21:0,0,0:131,72,106:20,77,44:0,50,36:-,NR_002729.2(MST1L) n.715+73C>A:-,NOT_FOUND:-,NOT_FOUND 1 17086315 . TC T 23 nt VT=DEL;SST=Single;DP=115;PC=0.001;Gene=MST1L/NM_001271733.1/1;CC=c.715+68delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:C,TC,T:115:55:0:22:1,92,22:5,2793,363:-0.34,0.00,23.32:-0.15,0.00,13.06:-0.19,0.00,10.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,44,43:29.0,18.3,43.8:1,0,0:0,0,0:68,95,53:83,55,97:0,46,27:-,NR_002729.2(MST1L) n.715+68delG:-,NOT_FOUND:-,NOT_FOUND 1 17086439 rs199717911 C T 24 lc VT=SNV;PN=A;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=5;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.660G>A;ProtCh=p.W220*;VC=Nonsense;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,C,G,T:136:89:0:0:1,121,1,13:11,3797,10,358:-0.28,0.00,-0.30,23.68:-0.12,0.00,-0.14,11.10:-0.15,0.00,-0.15,12.58:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:25,40,25,41:147.0,36.6,120.0,110.4:0,0,0,0:0,0,0,0:124,79,66,62:25,72,80,87:0,24,0,14:-,NR_002729.2(MST1L) n.660G>A:-,NOT_FOUND:-,NOT_FOUND 1 17086450 rs200858362 C G 159 lc VT=SNV;PN=T;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=NA;NP=4;PC=0.981;Gene=MST1L/NM_001271733.1/1;CC=c.649G>C;ProtCh=p.E217Q;VC=Missense;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:130:83:0:0:78,52:2243,1722:0.00,159.20:0.00,112.39:0.00,46.81:0.00,1.00:0.00,1.00:0.00,1.00:40,41:23.9,79.7:0,0:0,0:83,80:62,71:20,14:-,NR_002729.2(MST1L) n.649G>C:-,NOT_FOUND:-,NOT_FOUND 1 17086464 rs201407059 T C 147 lc VT=SNV;PN=A;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=4;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.635A>G;ProtCh=p.N212S;VC=Missense;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:122:75:0:0:47,75:1600,2235:147.18,0.00:101.07,0.00:46.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,40:85.5,25.4:0,0:0,0:89,91:60,57:12,18:NR_002729.2(MST1L) n.635A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17086503 . C . . NT END=17086646;NT GT ./. 1 17086538 rs199530717 T G 107 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=11;Gene=MST1L/NM_001271733.1/1;CC=c.597-36A>C;VC=Intron;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C,G,T:35:20:0:0:1,33,1:11,937,11:0.28,107.37,0.00:-0.01,57.46,0.00:0.30,49.91,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,40,27:186.0,73.5,19.0:0,0,0:0,0,0:135,133,5:-8,18,145:0,17,0:NR_002729.2(MST1L) n.597-36A>C,NR_002729.2(MST1L) n.597-36A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17086541 rs200649629 T C 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=110;Gene=MST1L/NM_001271733.1/1;CC=c.597-39A>G;VC=Intron;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:19:0:0:23,8:675,243:70.73,0.00:58.06,0.00:12.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,27:62.1,87.2:0,0:0,0:27,138:124,13:25,10:NR_002729.2(MST1L) n.597-39A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17086768 . C . . NT END=17086848;NT GT ./. 1 17086870 rs2261727 T C 112 lc VT=SNV;PN=C;NN=G;SST=Single;DP=316;DB;DBA=NA;PAF=T/0.4996,C/0.5004,G/.;PC=0.966;Gene=MST1L/NM_001271733.1/1;CC=c.454A>G;ProtCh=p.S152G;VC=Missense;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:316:178:0:0:1,49,1,265:11,1476,11,8694:-0.30,112.05,-0.30,0.00:-0.15,63.12,-0.15,0.00:-0.16,48.92,-0.16,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:27,40,43,60:98.0,42.3,30.0,9.0:0,0,0,0:0,0,0,0:46,88,96,87:105,58,55,61:0,38,0,31:NR_002729.2(MST1L) n.454A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17086941 rs28462251 C T 54 lc VT=SNV;PN=A;NN=G;SST=Single;DP=255;DB;DBA=NA;PAF=C/0.8181,A/.,T/0.1819;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.383G>A;ProtCh=p.R128H;VC=Missense;DM=MST1L/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,G,T:255:160:0:0:229,1,25:7042,14,775:0.00,-0.29,54.07:0.00,-0.08,41.45:0.00,-0.21,12.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,50,51:18.0,14.0,53.2:0,0,0:0,0,0:89,148,20:55,3,127:39,0,13:-,NR_002729.2(MST1L) n.383G>A:-,NOT_FOUND:-,NOT_FOUND 1 17086986 . C . . NT END=17087245;NT GT ./. 1 17087041 rs76332048 C T 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=272;DB;DBA=NA;PAF=NA;NP=34;Gene=MST1L/NM_001271733.1/1;CC=c.339-56G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:272:154:0:0:244,1,27:7436,13,846:0.00,-0.34,59.48:0.00,-0.17,46.18:0.00,-0.17,13.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,43,51:19.2,133.0,90.9:0,0,0:0,0,0:74,34,80:73,117,71:38,0,45:-,NR_002729.2(MST1L) n.339-56G>A:-,NOT_FOUND:-,NOT_FOUND 1 17087065 rs57456878 T G 77 nt VT=SNV;PN=T;NN=G;SST=Single;DP=295;DB;DBA=NA;PAF=NA;NP=5;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.339-80A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:295:163:0:0:2,1,33,259:26,7,1056,8161:-0.43,-0.32,76.76,0.00:-0.26,-0.14,61.77,0.00:-0.17,-0.19,14.99,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:13,27,40,60:156.5,170.0,85.9,18.1:0,0,0,0:0,0,0,0:121,15,63,68:20,136,88,82:13,0,40,40:NR_002729.2(MST1L) n.339-80A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17087072 rs79486936 G A 221 nt VT=SNV;PN=C;NN=T;SST=Single;DP=292;DB;DBA=NA;PAF=NA;NP=1343;PC=0.983;Gene=MST1L/NM_001271733.1/1;CC=c.339-87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:292:165:0:0:82,1,208,1:2564,22,6453,12:220.59,0.11,0.00,-0.22:113.37,-0.12,0.00,-0.07:107.21,0.23,0.00,-0.15:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:52,27,60,40:64.6,170.0,11.1,196.0:0,0,0,0:0,0,0,0:63,22,65,30:87,129,81,79:41,0,34,0:NR_002729.2(MST1L) n.339-87C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17087244 rs58502471 AC A 133 nt VT=DEL;SST=Single;DP=437;DB;DBA=NA;PAF=AC/0.7518,A/0.2482;NP=1651;PC=0.012;Gene=MST1L/NM_001271733.1/1;CC=c.338+1delG;VC=SpliceSiteCDS;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,C,G,T,A:437:376:0:57:375,2,1,2,57:11073,23,12,25,1789:0.00,-0.66,-0.29,-0.62,133.03:0.00,-0.48,-0.25,-0.44,94.54:0.00,-0.18,-0.04,-0.18,38.49:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,40,60,40,60:66.9,106.5,12.0,177.0,10.9:0,0,0,0,0:0,0,0,0,0:58,71,54,71,55:91,80,97,78,96:32,33,0,56,29:-,NR_002729.2(MST1L) n.338+1delG:-,NOT_FOUND:-,NOT_FOUND 1 17087262 rs2926375 C T 779 lc VT=SNV;PN=T;NN=C;SST=Single;DP=488;DB;DBA=NA;PAF=NA;NP=2301;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.322G>A;ProtCh=p.E108K;VC=Missense;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:488:419:0:0:225,1,262:7281,10,8008:0.00,-0.17,779.34:0.00,-0.11,631.94:0.00,-0.07,147.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:20.2,19.0,111.7:0,0,0:0,0,0:51,93,62:96,30,85:32,0,31:-,NR_002729.2(MST1L) n.322G>A:-,NOT_FOUND:-,NOT_FOUND 1 17087292 rs2179161 A G 616 lc VT=SNV;PN=C;NN=C;SST=Single;DP=575;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.292T>C;ProtCh=p.W98R;VC=Missense;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:575:471:0:0:343,1,229,2:10911,12,6750,46:0.00,-0.26,616.35,0.98:0.00,-0.15,494.55,-0.22:0.00,-0.11,121.80,1.20:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,40,52,56:28.1,164.0,145.6,79.0:0,0,0,0:0,0,0,0:67,75,45,82:80,76,106,68:35,0,28,7:-,NR_002729.2(MST1L) n.292T>C:-,NOT_FOUND:-,NOT_FOUND 1 17087299 rs2179162 T C 756 lc VT=SNV;PN=T;NN=G;SST=Single;DP=607;DB;DBA=NA;PAF=NA;NP=459;PC=0.802;Gene=MST1L/NM_001271733.1/1;CC=c.285A>G;ProtCh=p.S95=;VC=Silent;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:607:498:0:0:1,251,1,354:11,8147,11,11105:-0.28,756.18,-0.28,0.00:-0.19,627.24,-0.19,0.00:-0.09,128.93,-0.09,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:25,57,60,60:216.0,142.5,136.0,29.8:0,0,0,1:0,0,0,0:104,52,84,63:23,99,36,84:0,35,0,30:NR_002729.2(MST1L) n.285A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17087305 rs12046578 G C 791 lc VT=SNV;PN=G;NN=G;SST=Single;DP=628;DB;DBA=NA;PAF=NA;NP=41;PC=0.022;Gene=MST1L/NM_001271733.1/1;CC=c.279C>G;ProtCh=p.P93=;VC=Silent;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T,I:628:515:1:0:268,357,2,1:8486,11066,19,11:790.66,0.00,-0.41,-0.28:634.51,0.00,-0.23,-0.17:156.15,0.00,-0.17,-0.12:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,46,58:139.0,29.7,182.5,79.0:0,0,0,1:0,0,0,0:53,71,63,86:96,78,80,40:33,33,54,0:NR_002729.2(MST1L) n.279C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17087365 rs2446556 C G 2494 lc VT=SNV;PN=A;NN=G;SST=Single;DP=827;DB;DBA=NA;PAF=NA;PC=0.200;Gene=MST1L/NM_001271733.1/1;CC=c.219G>C;ProtCh=p.A73=;VC=Silent;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:827:618:0:0:2,110,712,3:41,3453,22950,30:0.70,0.00,2493.64,-0.05:0.74,0.00,1531.65,-0.06:-0.04,0.00,961.99,0.02:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:58,60,60,56:95.0,8.6,76.9,109.3:0,0,1,0:0,0,0,0:66,73,65,90:84,69,81,61:5,44,35,25:-,NR_002729.2(MST1L) n.219G>C:-,NOT_FOUND:-,NOT_FOUND 1 17087369 . C . . NT END=17087449;NT GT ./. 1 17087459 rs11576695 A G 271 lc VT=SNV;PN=C;NN=T;SST=Single;DP=1069;DB;DBA=NA;PAF=NA;PC=0.993;Gene=MST1L/NM_001271733.1/1;CC=c.206T>C;ProtCh=p.M69T;VC=Missense;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:1069:734:0:0:944,3,122:30579,59,3766:0.00,0.18,270.79:0.00,-0.64,116.15:0.00,0.83,154.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:67,57,57:37.2,102.7,71.1:0,0,0:0,0,0:74,112,62:73,37,84:32,3,34:-,NR_002729.2(MST1L) n.206T>C:-,NOT_FOUND:-,NOT_FOUND 1 17087465 rs11260924 G A 1765 lc VT=SNV;PN=G;NN=G;SST=Single;DP=1064;DB;DBA=NA;PAF=NA;NP=3230;Gene=MST1L/NM_001271733.1/1;CC=c.200C>T;ProtCh=p.P67L;VC=Missense;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1064:729:0:0:559,6,495,4:18146,59,15376,40:1764.60,-0.40,0.00,-0.69:904.67,0.14,0.00,-0.40:859.93,-0.54,0.00,-0.29:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:67,60,60,56:55.7,79.3,24.8,88.5:0,0,0,0:0,0,0,0:74,33,70,104:72,118,75,46:30,21,35,11:NR_002729.2(MST1L) n.200C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17087521 rs11589598 G A 285 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1006;DB;DBA=NA;PAF=NA;PC=0.010;Gene=MST1L/NM_001271733.1/1;CC=c.144C>T;ProtCh=p.P48=;VC=Silent;DM=MST1L/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1006:599:0:0:120,5,880,1:3862,61,27031,13:284.62,-0.32,0.00,-0.36:128.02,0.01,0.00,-0.13:156.60,-0.33,0.00,-0.23:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:58,57,66,52:73.9,114.4,33.3,24.0:0,0,0,0:0,0,0,0:81,67,78,121:68,84,70,28:36,44,37,0:NR_002729.2(MST1L) n.144C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17087541 rs56364660 GGTGCT G 1308 lc VT=DEL;SST=Single;DP=935;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2075;PC=0.383;Gene=MST1L/NM_001271733.1/1;CC=c.119_123delAGCAC;ProtCh=p.Q40Pfs*18;VC=FrameShiftDel;DM=MST1L/PAN_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGTGCT,T,G:935:509:0:441:495,2,438:16133,25,13799:0.00,-0.35,1308.36:0.00,-0.12,462.86:0.00,-0.23,845.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,66:24.4,57.0,54.2:0,0,0:0,0,0:94,80,86:54,70,62:36,67,34:-,NR_002729.2(MST1L) n.119_123delAGCAC:-,NOT_FOUND:-,NOT_FOUND 1 17087582 rs10907280 G A 1579 lc VT=SNV;PN=C;NN=A;SST=Single;DP=799;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1L/NM_001271733.1/1;CC=c.83C>T;ProtCh=p.S28L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:799:359:0:0:495,2,301,1:15727,20,9782,8:1579.47,-0.33,0.00,-0.12:513.67,-0.11,0.00,-0.04:1065.81,-0.21,0.00,-0.09:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:53,52,60,52:62.2,64.5,8.5,17.0:0,0,0,0:0,0,0,0:90,67,83,72:57,83,63,78:32,35,31,0:NR_002729.2(MST1L) n.83C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17087593 rs12145944 C T 391 lc VT=SNV;PN=G;NN=T;SST=Single;DP=768;DB;DBA=NA;PAF=NA;PC=0.453;Gene=MST1L/NM_001271733.1/1;CC=c.72G>A;ProtCh=p.Q24=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:768:339:0:0:614,154:20493,4843:0.00,390.77:0.00,110.10:0.00,280.67:0.00,1.00:0.00,1.00:0.00,1.00:60,53:31.1,74.0:0,0:0,0:90,90:54,56:31,32:-,NR_002729.2(MST1L) n.72G>A:-,NOT_FOUND:-,NOT_FOUND 1 17087598 . C . . NT END=17090908;NT GT ./. 1 17087682 rs9725203 A G 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=324;DB;DBA=NA;PAF=NA;NP=1;NP=743;PC=0.005;Gene=MST1L/NM_001271733.1/1;CC=c.68-85T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:324:72:0:0:284,1,39:9131,5,1225:0.00,-0.36,89.48:0.00,-0.05,16.25:0.00,-0.32,73.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,54:22.7,5.0,60.6:0,0,0:0,0,0:100,64,119:50,87,32:32,0,23:-,NR_002729.2(MST1L) n.68-85T>C:-,NOT_FOUND:-,NOT_FOUND 1 17087841 rs61769742 T C 190 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=MST1L/NM_001271733.1/1;CC=c.68-244A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:C:61:3:0:0:61:1617:190.04:9.20:180.83:1.00:1.00:1.00:56:53.7:0:0:110:41:26:NR_002729.2(MST1L) n.68-244A>G,NR_002729.2(MST1L) n.68-244A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 17087862 rs55943587 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=33;Gene=MST1L/NM_001271733.1/1;CC=c.68-265G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:3:0:0:34,12:1014,370:0.00,31.26:0.00,3.10:0.00,28.16:0.00,1.00:0.00,0.63:0.00,1.00:56,50:53.0,85.0:0,0:0,0:112,110:38,40:20,30:-,NR_002729.2(MST1L) n.68-265G>A:-,NOT_FOUND:-,NOT_FOUND 1 17090902 rs375912556 A AT 51 nt VT=INS;SST=Single;DP=182;DB;DBA=NA;PAF=NA;NP=72;Gene=MST1L/NM_001271733.1/1;CC=c.67+6dupA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:182:156:30:0:151,1,30:4854,16,717:0.00,-0.13,51.42:0.00,-0.01,27.66:0.00,-0.12,23.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,15,44:8.1,159.0,24.5:0,0,0:0,0,0:42,92,40:106,59,104:26,0,20:-,NR_002729.2(MST1L) n.67+6_67+7insA:-,NOT_FOUND:-,NOT_FOUND 1 17090929 . G A 45 lc VT=SNV;PN=T;NN=A;SST=Single;DP=206;NP=2;Gene=MST1L/NM_001271733.1/1;CC=c.47C>T;ProtCh=p.S16L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,G,T:206:171:0:0:20,185,1:637,6378,9:44.94,0.00,-0.36:20.76,0.00,-0.18:24.18,0.00,-0.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,55,15:40.1,5.9,159.0:0,0,0:0,0,0:59,61,119:72,86,32:18,27,0:NR_002729.2(MST1L) n.47C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17090976 . G . . NT END=17215210;NT GT ./. 1 17091129 rs61769748 G A 78 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8377,A/0.1623 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:0:0:0:24,16:785,501:78.23,0.00:0.00,0.00:78.23,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.0,26.2:0,0:0,0:91,75:60,75:29,18:NR_002729.2(MST1L) n.-154C>T,-:0.12,-:NOT_FOUND,- 1 17183115 rs10888043 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:5:5:0:0:2,3:64,104:0.00,10.37:0.00,10.37:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,31:0.0,58.0:0,0:0,0:68,84:83,63:21,5:-,chr1 g.17183114A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17183210 rs551320724 A G 15 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8716,G/0.1284;NP=48;PC=0.811 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,G:12:11:0:0:7,5:232,163:0.00,15.15:0.00,8.17:0.00,6.98:0.00,0.92:0.00,0.99:0.00,0.89:55,41:12.0,105.2:0,0:0,0:79,7:72,143:44,2:-,chr1 g.17183209A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17183222 rs139261556 G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8818,A/0.1182;PC=0.889 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:11:10:0:0:5,6:155,190:14.60,0.00:8.74,0.00:5.86,0.00:0.93,0.00:0.99,0.00:0.95,0.00:41,41:104.4,8.2:0,0:0,0:24,44:127,106:6,33:chr1 g.17183221G>A (intergenic),-:0.14,-:NOT_FOUND,- 1 17183245 rs189990419 G A 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=170;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:15:13:0:0:3,12:92,393:7.37,0.00:5.44,0.00:1.94,0.00:0.55,0.00:0.90,0.00:0.66,0.00:41,41:131.0,15.2:0,0:0,0:41,46:110,97:1,28:chr1 g.17183244G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17183281 rs150144028 T G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=2157 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:G,T:24:20:0:0:7,17:190,571:16.02,0.00:8.59,0.00:7.43,0.00:0.97,0.00:1.00,0.00:0.91,0.00:41,60:77.6,10.8:0,0:0,0:76,40:75,111:47,31:chr1 g.17183280T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17183453 rs146739743 A G 112 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.1466,G/0.8534;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:34:24:0:0:34:960:111.77:74.40:37.37:1.00:1.00:1.00:40:35.7:0:0:51:99:20:chr1 g.17183452A>G (intergenic),chr1 g.17183452A>G (intergenic):0.84,0.84:NOT_FOUND,NOT_FOUND 1 17183487 rs202228202 A T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=1917;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,T:40:29:0:0:35,5:1179,175:0.00,13.34:0.00,6.54:0.00,6.80:0.00,0.76:0.00,0.94:0.00,0.80:42,27:24.2,62.2:0,0:0,0:65,99:85,52:29,13:-,chr1 g.17183486A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17183572 rs200192602 G T 18 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.9982,T/0.001797;NP=381;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:G,T:45:23:0:0:38,7:1228,234:0.00,18.30:0.00,-1.35:0.00,19.65:0.00,0.93:0.00,0.94:0.00,0.98:42,40:11.7,44.3:0,0:0,0:75,62:66,89:27,9:-,chr1 g.17183571G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17185437 rs61768089 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=558;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,T:17:17:0:0:11,6:319,162:0.00,14.26:0.00,14.26:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,44:16.5,46.0:0,0:0,0:36,31:115,119:17,12:-,chr1 g.17185436C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17185572 rs199942047 C G 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=923;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:40:25:0:0:31,9:1005,318:0.00,26.84:0.00,4.89:0.00,21.96:0.00,0.99:0.00,0.99:0.00,1.00:60,40:8.1,39.4:0,0:0,0:56,101:88,41:24,8:-,NR_037446.1(MIR3675) n.-56G>C:-,NOT_FOUND:-,NOT_FOUND 1 17185783 rs201927310 G A 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=590;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:2:0:0:8,9:279,276:26.61,0.00:3.31,0.00:23.30,0.00:0.99,0.00:0.77,0.00:1.00,0.00:37,43:39.1,8.9:0,0:0,0:118,116:32,34:21,33:NR_037446.1(MIR3675) n.-267C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 17215004 rs6677037 C T 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:18:0:0:18:524:60.82:60.82:0.00:1.00:1.00:0.00:60:103.2:0:0:64:86:31:NR_004427.1(RNU1-2) n.-7471C>T,NR_004427.1(RNU1-2) n.-7471C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 17215015 rs6586510 A G 81 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:22:0:0:22:707:81.16:81.16:0.00:1.00:1.00:0.00:60:96.0:0:0:63:87:37:NR_004427.1(RNU1-2) n.-7460A>G,NR_004427.1(RNU1-2) n.-7460A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 17215020 rs6586511 G A 76 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:A,G:23:23:0:0:22,1:675,20:76.23,0.00:76.23,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,58:87.8,179.0:0,0:0,0:56,85:94,66:41,0:NR_004427.1(RNU1-2) n.-7455G>A,NR_004427.1(RNU1-2) n.-7455G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 17215281 . C . . NT END=17215710;NT GT ./. 1 17215460 rs59182467 G GC 25 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3421,GA/0.1412,GC/0.5168;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3421,GC/0.5168;NP=12;NP=5;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GC:43:8:10:0:1,32,10:13,1060,302:0.04,0.00,24.96:0.30,0.00,1.96:-0.26,0.00,23.01:0.00,0.00,0.99:0.00,0.00,0.84:0.00,0.00,1.00:60,60,60:21.0,11.6,21.7:0,0,0:0,0,0:142,93,109:9,58,41:0,33,11:-,NR_004427.1(RNU1-2) n.-7015_-7014insC:-,NOT_FOUND:-,NOT_FOUND 1 17215495 rs1970002 G A 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:10:0:0:11,26:356,787:31.07,0.00:5.28,0.00:25.79,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:34.7,14.9:0,0:0,0:91,101:59,49:46,44:NR_004427.1(RNU1-2) n.-6980G>A,-:0.24,-:NOT_FOUND,- 1 17215654 rs1970003 A C 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:131:118:0:0:89,42:2830,1354:0.00,119.72:0.00,94.08:0.00,25.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,45.8:0,0:0,0:40,75:100,76:22,45:-,NR_004427.1(RNU1-2) n.-6821A>C:-,0.15:-,NOT_FOUND 1 17215982 rs3738617 C A 256 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=233;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:233:137:0:0:80,84,69:2698,2480,2287:255.51,0.00,212.36:105.97,0.00,84.64:149.54,0.00,127.72:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,10.0,51.7:0,0,0:0,0,0:92,83,82:52,66,66:34,39,32:NR_004427.1(RNU1-2) n.-6493C>A,-:0.87,-:NOT_FOUND,- 1 17216080 rs3738618 T C 125 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=T/0.7161,C/0.2839 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:162:89:0:0:45,117:1453,3586:125.24,0.00:45.76,0.00:79.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.1,16.6:0,0:0,0:106,85:45,57:27,36:NR_004427.1(RNU1-2) n.-6395T>C,-:0.26,-:NOT_FOUND,- 1 17216099 . C . . NT END=17222151;NT GT ./. 1 17216135 rs6684252 G C 79 nt VT=SNV;PN=G;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.2578,C/0.7422 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:113:47:0:0:30,82,1:925,2569,14:78.55,0.00,-0.11:13.28,0.00,-0.10:65.27,0.00,-0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:66.7,8.8,91.0:0,0,0:0,0,0:103,93,147:47,51,-29:34,33,0:NR_004427.1(RNU1-2) n.-6340G>C,-:0.75,-:NOT_FOUND,- 1 17216233 rs7412012 C A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.987 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:43:0:0:0:10,32,1:268,948,10:21.58,0.00,-0.12:0.00,0.00,0.00:21.58,0.00,-0.12:0.99,0.00,0.00:0.00,0.00,0.00:0.99,0.00,0.00:60,60,60:85.7,15.3,40.0:0,0,0:0,0,0:132,111,110:18,39,12:13,23,0:NR_004427.1(RNU1-2) n.-6242C>A,-:0.19,-:NOT_FOUND,- 1 17216331 rs6586513 C A 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2616,A/0.7384 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,C:10:0:0:0:9,1:253,11:28.21,0.00:0.00,0.00:28.21,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:61.9,134.0:0,0:0,0:123,73:25,77:13,0:NR_004427.1(RNU1-2) n.-6144C>A,NR_004427.1(RNU1-2) n.-6144C>A:0.75,0.75:NOT_FOUND,NOT_FOUND 1 17222096 rs6586521 T C 102 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.2173,C/0.7827;NP=4;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:58:0:0:31,28:1049,774:102.04,0.00:84.38,0.00:17.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:35.2,11.3:0,0:0,0:39,24:112,127:23,19:NR_004427.1(RNU1-2) n.-379T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17222243 rs6586522 C T 196 lc VT=SNV;PN=A;NN=A;SST=Single;DP=144;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:144:111:0:0:78,66:2488,2072:0.00,195.53:0.00,118.26:0.00,77.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.3,35.1:0,0:0,0:74,72:75,73:38,36:-,NR_004427.1(RNU1-2) n.-232C>T:-,0.62:-,NOT_FOUND 1 17222407 rs10158905 G A 193 lc VT=SNV;PN=G;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:122:57:0:0:60,62:2008,1925:192.65,0.00:49.92,0.00:142.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.3,18.1:0,0:0,0:79,97:68,51:26,27:NR_004427.1(RNU1-2) n.-68G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17222462 rs10158908 G A 120 lc VT=SNV;PN=A;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.651,A/0.349;NP=484 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:84:17:0:0:43,40,1:1243,1339,35:119.73,0.00,1.85:2.37,0.00,2.01:117.35,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,50,40:61.8,20.4,101.0:0,0,0:0,0,0:104,102,133:46,48,18:18,20,0:NR_004427.1(RNU1-2) n.-13G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17222477 . a . . NT END=17248513;NT GT ./. 1 17222653 rs67606166 CT C 8 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CT/0.1741,C/0.8259;NP=3;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:CT,C:12:0:0:3:9,3:274,97:0.00,8.20:0.00,0.00:0.00,8.20:0.00,0.59:0.00,0.00:0.00,0.59:60,60:11.6,114.0:0,0:0,0:118,71:32,79:14,25:-,chr1 g.17222654delT (intergenic):-,0.84:-,NOT_FOUND 1 17222706 rs74055958 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;NP=36;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:4:0:0:0:1,3:27,96:0.00,10.05:0.00,0.00:0.00,10.05:0.00,0.85:0.00,0.00:0.00,0.85:60,60:22.0,172.3:0,0:0,0:74,98:76,53:0,25:-,chr1 g.17222705C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17231387 rs76981156 G A 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,G:10:7:0:0:9,1:278,34:30.68,0.00:21.54,0.00:9.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:225.3,0.0:0,0:0,0:9,28:138,122:7,0:chr1 g.17231386G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231398 rs79329227 A C 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,C:10:7:0:0:1,9:35,298:0.00,32.68:0.00,22.79:0.00,9.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,228.2:0,0:0,0:39,18:111,133:0,5:-,chr1 g.17231397A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17231417 rs76747971 A G 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=91;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:18:13:0:0:2,16:64,531:0.00,57.97:0.00,34.87:0.00,23.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.5,223.6:0,0:0,0:37,32:113,117:20,15:-,chr1 g.17231416A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17231421 . A G 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:19:14:0:0:16,3:513,102:0.00,8.04:0.00,3.72:0.00,4.32:0.00,0.51:0.00,0.85:0.00,0.76:60,60:179.6,274.3:0,0:0,0:23,36:113,115:14,2:-,chr1 g.17231420A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 17231425 rs77166683 G A 70 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=264;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,G:21:16:0:0:19,2:636,66:69.79,0.00:38.84,0.00:30.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:211.6,15.5:0,0:0,0:29,45:109,105:11,20:chr1 g.17231424G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231444 rs75158278 T C 66 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=426;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:C,T:21:14:0:0:19,2:598,68:65.96,0.00:31.91,0.00:34.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:219.3,16.0:0,0:0,0:48,49:90,100:18,35:chr1 g.17231443T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231508 rs67521276 T C 78 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=224;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:C,T:25:13:0:0:23,2:700,66:77.90,0.00:23.25,0.00:54.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:220.2,16.0:0,0:0,0:112,113:28,36:13,35:chr1 g.17231507T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231520 . C A 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,C:22:12:0:0:3,19:94,560:7.03,0.00:0.69,0.00:6.34,0.00:0.48,0.00:0.75,0.00:0.88,0.00:60,60:274.3,204.4:0,0:0,0:135,118:16,27:2,17:chr1 g.17231519C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231522 rs1687156 T C 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=21;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:C,T:22:11:0:0:16,6:496,196:51.53,0.00:11.59,0.00:39.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:229.1,157.7:0,0:0,0:121,128:29,6:8,15:chr1 g.17231521T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231540 . G A 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,G:13:6:0:0:12,1:394,33:43.59,0.00:8.90,0.00:34.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:250.1,32.0:0,0:0,0:117,110:33,39:21,0:chr1 g.17231539G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231546 . G A 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:A,G:12:5:0:0:11,1:289,35:32.57,0.00:6.49,0.00:26.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:251.6,32.0:0,0:0,0:123,116:28,33:21,0:chr1 g.17231545G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231557 . G A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,G:8:0:0:0:7,1:235,34:25.53,0.00:0.00,0.00:25.53,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:276.1,32.0:0,0:0,0:115,127:34,22:6,0:chr1 g.17231556G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231562 . C A 28 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,C:9:1:0:0:8,1:259,30:28.35,0.00:1.91,0.00:26.44,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:276.2,32.0:0,0:0,0:123,132:27,17:7,0:chr1 g.17231561C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231567 . T C 27 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:C,T:9:1:0:0:8,1:243,32:26.74,0.00:1.86,0.00:24.88,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:276.2,32.0:0,0:0,0:128,137:22,12:7,0:chr1 g.17231566T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 17231575 rs9435779 C T 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=125;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:1:0:0:8:239:27.68:3.58:24.10:1.00:1.00:1.00:60:243.1:0:0:132:18:8:chr1 g.17231574C>T (intergenic),chr1 g.17231574C>T (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 17248500 rs6683035 A G 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.-14A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:69:0:0:58,19:1873,600:0.00,50.39:0.00,31.60:0.00,18.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.4,65.9:0,0:0,0:64,51:79,92:35,24:-,NM_014675.3(CROCC) c.-14A>G:-,0.48:-,0.431953 1 17248532 rs6586566 A G 309 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=1304;PC=0.005;Gene=CROCC/NM_014675.4/1;CC=c.19A>G;ProtCh=p.R7G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:67:0:0:85:2684:308.79:162.82:145.97:1.00:1.00:1.00:60:42.8:0:0:80:61:27:NM_014675.3(CROCC) c.19A>G (p.Arg7Gly),NM_014675.3(CROCC) c.19A>G (p.Arg7Gly):1,1:NOT_FOUND,NOT_FOUND 1 17248574 . G . . NT END=17249157;NT GT ./. 1 17248885 rs6694144 G A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1613,A/0.8387;Gene=CROCC/NM_014675.4/1;CC=c.61-273G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,G:9:8:0:0:5,4:139,114:13.57,0.00:13.92,0.00:-0.35,0.00:0.96,0.00:1.00,0.00:0.70,0.00:60,60:69.8,45.0:0,0:0,0:41,27:110,123:28,12:NM_014675.3(CROCC) c.61-273G>A,-:0.87,-:NOT_FOUND,- 1 17249294 . G . . NT END=17250819;NT GT ./. 1 17249395 rs6586567 A G 113 nt VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.3183,G/0.6817;Gene=CROCC/NM_014675.4/1;CC=c.196+102A>G;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:6:0:0:28,35:882,1151:0.00,112.95:0.00,6.42:0.00,106.52:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.7,43.7:0,0:0,0:112,114:38,37:24,25:-,NM_014675.3(CROCC) c.196+102A>G:-,NOT_FOUND:-,NOT_FOUND 1 17249542 rs59842660 C T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.971,T/0.02895;PC=0.010;Gene=CROCC/NM_014675.4/1;CC=c.196+249C>T;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:12:0:0:0:8,4:229,127:0.00,11.30:0.00,0.00:0.00,11.30:0.00,0.80:0.00,0.00:0.00,0.80:60,60:9.0,66.2:0,0:0,0:123,118:27,33:23,21:-,NM_014675.3(CROCC) c.196+249C>T:-,0.04:-,NOT_FOUND 1 17249546 rs61461842 C T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9687,T/0.03135;Gene=CROCC/NM_014675.4/1;CC=c.196+253C>T;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,T:11:0:0:0:7,4:229,115:0.00,10.28:0.00,0.00:0.00,10.28:0.00,0.82:0.00,0.00:0.00,0.82:60,60:6.6,66.2:0,0:0,0:127,122:24,29:21,21:-,NM_014675.3(CROCC) c.196+253C>T:-,0.04:-,NOT_FOUND 1 17250573 rs3936146 T C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.1502,C/0.8498;Gene=CROCC/NM_014675.4/1;CC=c.197-247T>C;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:16:16:0:0:1,6,9:12,214,276:0.32,19.87,0.00:0.32,19.87,0.00:0.00,0.00,0.00:0.00,0.95,0.00:0.00,0.95,0.00:0.00,0.00,0.00:60,60,60:51.0,37.7,8.1:0,0,0:0,0,0:93,58,19:58,93,130:0,22,15:NM_014675.3(CROCC) c.197-247T>C,-:0.88,-:NOT_FOUND,- 1 17250975 . G . . NT END=17256340;NT GT ./. 1 17251055 rs9435703 C T 94 nt VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.4553,T/0.5447;Gene=CROCC/NM_014675.4/1;CC=c.351+81C>T;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:94:23:0:0:63,31:1911,1049:0.00,93.84:0.00,16.78:0.00,77.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,37.8:0,0:0,0:111,104:40,47:25,24:-,NM_014675.3(CROCC) c.351+81C>T:-,NOT_FOUND:-,NOT_FOUND 1 17255938 rs55667815 TC T 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TC/0.236,T/0.764;DB;DBA=NA;PAF=TC/0.236,T/0.764;NP=16;Gene=CROCC/NM_014675.4/1;CC=c.352-401delC;VC=Intron;DM=CROCC/Rootletin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TC,T:4:4:0:2:2,2:67,68:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,0.0:0,0:0,0:80,91:70,60:46,14:-,NM_014675.3(CROCC) c.352-402delC:-,0.77:-,NOT_FOUND 1 17256130 rs12140828 G A 12 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;Gene=CROCC/NM_014675.4/1;CC=c.352-211G>A;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:18:18:0:0:5,13:138,354:11.58,0.00:11.65,0.00:-0.07,0.00:0.87,0.00:0.87,0.00:0.52,0.00:60,60:37.6,38.6:0,0:0,0:4,37:147,109:1,24:NM_014675.3(CROCC) c.352-211G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17256313 rs9435710 G A 193 nt VT=SNV;PN=G;NN=A;SST=Single;DP=192;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.352-28G>A;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:192:166:0:0:67,124,1:2144,3973,13:192.62,0.00,-0.16:139.69,0.00,-0.07:52.94,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.3,6.3,169.0:0,0,0:0,0,0:65,56,4:86,94,128:35,32,0:NM_014675.3(CROCC) c.352-28G>A,-:0.31,-:NOT_FOUND,- 1 17256527 . G . . NT END=17256618;NT GT ./. 1 17256703 . G . . NT END=17256780;NT GT ./. 1 17256843 . G . . NT END=17256923;NT GT ./. 1 17257090 . G . . NT END=17257785;NT GT ./. 1 17257187 rs9435711 G GTCCGAGGGAGCACTC 21 nt VT=INS;SST=Single;DP=90;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;Gene=CROCC/NM_014675.4/1;CC=c.849+101_849+102insGAGGGAGCACTCTCC;VC=Intron;DM=CROCC/Rootletin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,G,GTCCGAGGGAGCACTC:90:20:10:0:2,78,10:69,2593,298:3.79,0.00,21.05:-0.11,0.00,0.82:3.90,0.00,20.23:0.00,0.00,0.98:0.00,0.00,0.82:0.00,0.00,1.00:60,60,60:62.5,14.2,13.5:0,0,0:0,0,0:82,119,94:68,23,57:21,16,13:-,NM_014675.3(CROCC) c.849+98_849+99insTCCGAGGGAGCACTC:-,NOT_FOUND:-,NOT_FOUND 1 17257191 rs140567937 A G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=48;Gene=CROCC/NM_014675.4/1;CC=c.849+102A>G;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,C,G:87:15:0:0:78,1,8:2404,9,240:0.00,-0.29,16.29:0.00,-0.03,8.23:0.00,-0.26,8.05:0.00,0.00,0.93:0.00,0.00,0.67:0.00,0.00,1.00:60,54,60:9.2,185.0,46.2:0,0,0:0,0,0:114,127,129:36,24,8:24,0,11:-,NM_014675.3(CROCC) c.849+102A>G:-,NOT_FOUND:-,NOT_FOUND 1 17257302 rs6682155 C T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.6685,T/0.3315;Gene=CROCC/NM_014675.4/1;CC=c.849+213C>T;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:24:0:0:0:17,7:590,183:0.00,15.33:0.00,0.00:0.00,15.33:0.00,0.97:0.00,0.00:0.00,0.97:60,60:8.1,35.3:0,0:0,0:83,98:68,52:44,32:-,NM_014675.3(CROCC) c.849+213C>T:-,NOT_FOUND:-,NOT_FOUND 1 17257354 rs9435712 G C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.849+265G>C;VC=Intron;DM=CROCC/Rootletin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:C,G:19:1:0:0:6,13:165,409:14.21,0.00:-0.16,0.00:14.38,0.00:0.94,0.00:0.54,0.00:1.00,0.00:60,60:61.7,9.7:0,0:0,0:54,80:95,70:32,20:NM_014675.3(CROCC) c.849+265G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17257893 . G . . NT END=17263131;NT GT ./. 1 17263369 . G . . NT END=17264135;NT GT ./. 1 17263557 rs9435713 G A 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.4838,A/0.5162;Gene=CROCC/NM_014675.4/1;CC=c.1193+189G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:24:0:0:0:6,18:170,599:14.01,0.00:0.00,0.00:14.01,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:44.0,7.4:0,0:0,0:137,124:13,27:10,18:NM_014675.3(CROCC) c.1193+189G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17264233 . G . . NT END=17264894;NT GT ./. 1 17264475 rs6586574 T A 21 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=119;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.1290+243T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,T:7:1:0:0:6,1:194,32:21.02,0.00:1.85,0.00:19.16,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:39.7,46.0:0,0:0,0:124,140:26,10:17,0:NM_014675.3(CROCC) c.1290+243T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17264677 rs6586575 G C 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.003594,C/0.9964;Gene=CROCC/NM_014675.4/1;CC=c.1291-218G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:189:21.76:21.76:0.00:1.00:1.00:0.00:60:33.7:0:0:15:135:10:NM_014675.3(CROCC) c.1291-218G>C,NM_014675.3(CROCC) c.1291-218G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 17264863 rs4275496 A G 180 nt VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.1291-32A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:69:0:0:21,55:662,1730:0.00,179.78:0.00,122.39:0.00,57.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,53.5:0,0:0,0:47,26:86,118:20,16:-,NM_014675.3(CROCC) c.1291-32A>G:-,0.45:-,NOT_FOUND 1 17264920 rs4463721 C T 54 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.006;Gene=CROCC/NM_014675.4/1;CC=c.1316C>T;ProtCh=p.A439V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:111:87:0:0:89,22:2929,678:0.00,54.37:0.00,25.67:0.00,28.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.8,87.2:0,0:0,0:72,67:71,84:30,20:-,NM_014675.3(CROCC) c.1316C>T (p.Ala439Val):-,0.29:-,NOT_FOUND 1 17264939 rs4558023 T C 63 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.1335T>C;ProtCh=p.D445=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:113:83:0:0:24,1,88:772,12,2881:63.39,-0.20,0.00:28.05,-0.16,0.00:35.34,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:79.8,128.0,15.2:0,0,0:0,0,0:88,40,70:62,105,74:16,0,28:NM_014675.3(CROCC) c.1335T>C (p.(=)),-:0.3,-:NOT_FOUND,- 1 17264979 . G . . NT END=17265403;NT GT ./. 1 17265171 rs4269814 A G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.003;Gene=CROCC/NM_014675.4/1;CC=c.1374+193A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:11:8:0:0:4,7:132,163:0.00,16.39:0.00,13.39:0.00,3.00:0.00,1.00:0.00,1.00:0.00,0.96:60,60:5.8,47.1:0,0:0,0:66,27:83,122:8,16:-,NM_014675.3(CROCC) c.1374+193A>G:-,0.45:-,NOT_FOUND 1 17265327 rs4269813 A G 150 nt VT=SNV;PN=C;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.1375-77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:66:62:0:0:16,1,49:473,11,1423:0.00,0.07,149.70:0.00,0.09,125.70:0.00,-0.02,24.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.9,20.0,63.2:0,0,0:0,0,0:76,88,34:74,63,117:30,0,20:-,NM_014675.3(CROCC) c.1375-77A>G:-,NOT_FOUND:-,NOT_FOUND 1 17265366 rs4269812 C G 99 nt VT=SNV;PN=A;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.1375-38C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:94:84:0:0:1,60,33:11,1997,1100:-0.15,0.00,99.48:-0.09,0.00,75.21:-0.06,0.00,24.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:252.0,34.2,57.7:0,0,0:0,0,0:123,52,39:27,97,112:0,28,20:-,NM_014675.3(CROCC) c.1375-38C>G:-,0.36:-,0.336746 1 17265560 rs9435793 C T 203 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=196;DB;DBA=NA;PAF=NA;PC=0.959;Gene=CROCC/NM_014675.4/1;CC=c.1531C>T;ProtCh=p.P511S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:196:128:0:0:1,126,69:10,3855,2246:-0.22,0.00,202.52:-0.10,0.00,90.57:-0.12,0.00,111.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:36.0,9.8,38.9:0,2,0:0,0,0:121,81,95:30,63,48:0,33,30:-,NM_014675.3(CROCC) c.1531C>T (p.Pro511Ser):-,0.36:-,NOT_FOUND 1 17265638 . G . . NT END=17266388;NT GT ./. 1 17265704 rs144288477 T TGGGGGC 48 nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=60;Gene=CROCC/NM_014675.4/1;CC=c.1608+85_1608+86insGGGGGC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,TGGGGGC:53:11:18:0:1,2,1,31,18:12,35,11,893,538:0.00,1.62,-0.04,0.00,48.30:0.22,1.98,-0.04,0.00,9.05:-0.22,-0.35,-0.00,0.00,39.25:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:85.0,35.0,136.0,17.2,7.4:0,0,0,0,0:0,0,0,0,0:101,34,63,120,77:50,98,88,21,70:0,33,0,24,25:-,NM_014675.3(CROCC) c.1608+67_1608+68insGGGGGC:-,NOT_FOUND:-,NOT_FOUND 1 17266536 rs9435714 G C 266 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=288;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CROCC/NM_014675.4/1;CC=c.1756G>C;ProtCh=p.D586H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:288:191:0:0:91,197:3010,6607:266.35,0.00:119.16,0.00:147.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,8.7:0,0:0,0:87,78:62,65:30,34:NM_014675.3(CROCC) c.1756G>C (p.Asp586His),-:0.24,-:NOT_FOUND,- 1 17266589 . G . . NT END=17270594;NT GT ./. 1 17266648 rs11203455 C T 118 nt VT=SNV;PN=A;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.004;Gene=CROCC/NM_014675.4/1;CC=c.1808+60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:120:33:0:0:1,77,42:33,2397,1311:1.42,0.00,117.56:-0.04,0.00,26.12:1.46,0.00,91.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:215.0,12.4,37.8:0,0,0:0,0,0:57,102,115:94,47,34:0,21,22:-,NM_014675.3(CROCC) c.1808+60C>T:-,0.17:-,NOT_FOUND 1 17270498 rs9435717 T G 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.6725,G/0.3275;NP=180;Gene=CROCC/NM_014675.4/1;CC=c.1809-97T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:55:52:0:0:20,35:547,1174:48.52,0.00:45.97,0.00:2.55,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:44.0,7.2:0,0:0,0:25,47:125,102:22,32:NM_014675.3(CROCC) c.1809-97T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17270751 rs12025984 G A 132 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=195;DB;DBA=NA;PAF=G/0.7624,A/0.2376;Gene=CROCC/NM_014675.4/1;CC=c.1965G>A;ProtCh=p.A655=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:195:120:0:0:50,145:1563,4769:132.00,0.00:49.92,0.00:82.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,8.6:0,0:0,0:88,78:57,61:30,30:NM_014675.3(CROCC) c.1965G>A (p.(=)),-:0.24,-:NOT_FOUND,- 1 17270778 . G . . NT END=17271956;NT GT ./. 1 17270845 rs6662906 C CG 65 nt VT=INS;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.7003,CG/0.2997;DB;DBA=NA;PAF=NA;NP=1;NP=78;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.1991+68_1991+69insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CG:74:22:25:0:48,1,25:1565,5,737:0.00,-0.26,65.25:0.00,-0.02,13.76:0.00,-0.24,51.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,60:13.2,113.0,23.6:0,1,0:0,0,0:118,95,94:33,56,57:24,0,40:-,NM_014675.3(CROCC) c.1991+68_1991+69insG:-,NOT_FOUND:-,NOT_FOUND 1 17270899 rs6663017 C T 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=12;Gene=CROCC/NM_014675.4/1;CC=c.1991+122C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:2:0:0:24,18:694,589:0.00,55.06:0.00,4.16:0.00,50.89:0.00,1.00:0.00,0.73:0.00,1.00:60,60:6.0,40.8:0,0:0,0:85,112:65,37:34,26:-,NM_014675.3(CROCC) c.1991+122C>T:-,NOT_FOUND:-,NOT_FOUND 1 17272102 . G . . NT END=17272753;NT GT ./. 1 17272436 rs3867302 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5599,G/0.4401;Gene=CROCC/NM_014675.4/1;CC=c.2137-318A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:5:2:0:0:1,4:36,98:0.00,10.47:0.00,3.91:0.00,6.56:0.00,0.96:0.00,0.97:0.00,0.99:51,60:56.0,29.2:0,0:0,0:41,70:109,80:0,30:-,NM_014675.3(CROCC) c.2137-318A>G:-,NOT_FOUND:-,NOT_FOUND 1 17272901 . G . . NT END=17273255;NT GT ./. 1 17273487 . G . . NT END=17274825;NT GT ./. 1 17273493 rs7537563 A C 285 nt VT=SNV;PN=C;NN=A;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.2514+7A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:120:39:0:0:35,85:1141,2765:0.00,285.47:0.00,52.31:0.00,233.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,40.7:0,0:0,0:116,101:35,46:17,33:-,NM_014675.3(CROCC) c.2514+7A>C:-,0.43:-,NOT_FOUND 1 17273694 rs3983221 A G 27 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=18;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.2514+208A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A,G:9:1:0:0:1,8:13,248:0.00,27.31:0.00,1.86:0.00,25.44:0.00,1.00:0.00,0.93:0.00,1.00:60,60:0.0,62.1:0,0:0,0:17,85:130,46:0,23:NM_014675.3(CROCC) c.2514+208A>G,NM_014675.3(CROCC) c.2514+208A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17275020 . G . . NT END=17275293;NT GT ./. 1 17275054 rs6698564 G C 234 nt VT=SNV;PN=G;NN=G;SST=Single;DP=231;DB;DBA=NA;PAF=G/0.6701,C/0.3299,T/.;NP=162;PC=0.168;Gene=CROCC/NM_014675.4/1;CC=c.2708+35G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:231:136:0:0:1,81,149:11,2599,4636:-0.20,233.80,0.00:-0.05,99.19,0.00:-0.15,134.60,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:174.0,68.3,16.9:0,0,1:0,0,0:131,88,87:12,63,57:0,25,29:NM_014675.3(CROCC) c.2708+35G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17275072 rs6690301 A G 245 nt VT=SNV;PN=C;NN=C;SST=Single;DP=226;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.2708+53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:226:124:0:0:141,2,83:4427,19,2698:0.00,-0.38,245.19:0.00,-0.16,85.53:0.00,-0.23,159.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:19.6,193.0,69.7:0,0,0:0,0,0:88,96,91:60,40,56:33,53,30:-,NM_014675.3(CROCC) c.2708+53A>G:-,NOT_FOUND:-,NOT_FOUND 1 17275102 rs12081151 C G 155 nt VT=SNV;PN=C;NN=C;SST=Single;DP=201;DB;DBA=NA;PAF=C/0.8319,G/0.1681;Gene=CROCC/NM_014675.4/1;CC=c.2708+83C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:201:105:0:0:146,55:4434,1801:0.00,155.16:0.00,55.80:0.00,99.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.7,42.7:1,0:0,0:104,85:43,64:31,30:-,NM_014675.3(CROCC) c.2708+83C>G:-,0.13:-,NOT_FOUND 1 17275337 rs143866013 C T 125 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CROCC/NM_014675.4/1;CC=c.2752C>T;ProtCh=p.R918W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:235:164:0:0:189,46:5894,1535:0.00,125.05:0.00,48.20:0.00,76.85:0.00,1.00:0.00,1.00:0.00,1.00:60,44:6.1,40.0:0,0:0,0:74,95:69,50:39,19:-,NM_014675.3(CROCC) c.2752C>T (p.Arg918Trp):-,NOT_FOUND:-,NOT_FOUND 1 17275422 . G . . NT END=17277447;NT GT ./. 1 17275622 rs142513742 G T 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.2836+201G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:24:0:0:0:1,14,9:9,468,252:0.00,0.00,22.76:0.00,0.00,0.00:0.00,0.00,22.76:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:40,50,60:191.0,47.2,36.9:0,0,0:0,0,0:125,102,95:26,49,53:0,30,49:-,NM_014675.3(CROCC) c.2836+201G>T:-,0.17:-,NOT_FOUND 1 17275669 rs9435720 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.2836+248G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,G:16:0:0:0:4,12:125,363:10.51,0.00:0.00,0.00:10.51,0.00:0.75,0.00:0.00,0.00:0.75,0.00:40,60:44.5,32.6:0,0:0,0:119,85:31,65:25,30:NM_014675.3(CROCC) c.2836+248G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17277618 . G . . NT END=17279796;NT GT ./. 1 17279977 . G . . NT END=17280717;NT GT ./. 1 17280022 rs78911909 A T 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.7744,T/0.2256;NP=49;Gene=CROCC/NM_014675.4/1;CC=c.3186+46A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:68:29:0:0:39,1,1,27:1341,7,7,887:0.00,-0.19,-0.19,82.14:0.00,-0.06,0.01,25.35:0.00,-0.13,-0.20,56.79:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,40,60,60:5.7,7.0,45.0,126.9:0,0,0,0:0,0,0,0:110,26,148,118:37,125,3,31:29,0,0,19:-,NM_014675.3(CROCC) c.3186+46A>T:-,NOT_FOUND:-,0.208775 1 17280025 rs78271317 T C 76 nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.7744,C/0.2256;NP=36;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.3186+49T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:65:27:0:0:1,26,38:10,820,1188:-0.11,75.62,0.00:-0.05,22.84,0.00:-0.06,52.78,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,60,60:109.0,128.0,2.7:0,0,0:0,0,0:114,120,113:3,28,34:0,15,27:NM_014675.3(CROCC) c.3186+49T>C,-:NOT_FOUND,-:0.200564,- 1 17280045 rs74875673 T C 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.7764,C/0.2236;NP=1;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.3186+69T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:18:0:0:18,31:534,948:47.99,0.00:12.23,0.00:35.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:172.4,9.7:0,0:0,0:118,107:27,31:19,26:NM_014675.3(CROCC) c.3186+69T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17280051 rs527700807 T C 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.777,C/0.223;Gene=CROCC/NM_014675.4/1;CC=c.3186+75T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:11:0:0:16,30:509,928:45.62,0.00:7.81,0.00:37.82,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:188.4,10.0:0,0:0,0:121,111:25,33:17,27:NM_014675.3(CROCC) c.3186+75T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17280057 rs547795814 G A 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7768,A/0.2232;PC=0.023;Gene=CROCC/NM_014675.4/1;CC=c.3186+81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:7:0:0:13,26:355,894:30.88,0.00:2.96,0.00:27.92,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:204.4,10.5:0,0:0,0:125,115:19,35:10,22:NM_014675.3(CROCC) c.3186+81G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17280061 rs567985513 G T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.7768,T/0.2232;Gene=CROCC/NM_014675.4/1;CC=c.3186+85G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:35:5:0:0:24,11:758,365:0.00,32.29:0.00,1.41:0.00,30.88:0.00,1.00:0.00,0.84:0.00,1.00:60,60:10.7,210.0:0,0:0,0:107,122:43,15:22,11:-,NM_014675.3(CROCC) c.3186+85G>T:-,NOT_FOUND:-,NOT_FOUND 1 17280075 rs575271195 GGCC G 17 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.3186+100_3186+102delGCC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:GGCC,G:30:3:0:7:23,7:706,212:0.00,17.47:0.00,1.51:0.00,15.96:0.00,0.95:0.00,0.59:0.00,0.95:60,60:31.4,210.4:0,0:0,0:118,118:33,33:20,14:-,NM_014675.3(CROCC) c.3186+100_3186+102delGCC:-,NOT_FOUND:-,NOT_FOUND 1 17280079 . A C 21 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;Gene=CROCC/NM_014675.4/1;CC=c.3186+103A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:1:0:0:18,8:513,242:0.00,21.06:0.00,-0.08:0.00,21.14:0.00,0.98:0.00,0.54:0.00,0.98:60,60:7.3,206.5:0,7:0,0:110,119:41,32:25,14:-,NM_014675.3(CROCC) c.3186+103A>C:-,NOT_FOUND:-,NOT_FOUND 1 17280085 rs138768977 C T 17 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7754,T/0.2246;Gene=CROCC/NM_014675.4/1;CC=c.3186+109C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:A,C,G,T:27:0:0:0:1,17,1,8:15,548,12,202:0.36,0.00,0.14,17.18:0.00,0.00,0.00,0.00:0.36,0.00,0.14,17.18:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.98:60,60,40,60:29.0,5.2,133.0,198.2:0,0,1,6:0,0,0,0:143,113,16,125:8,38,135,26:0,24,0,14:-,NM_014675.3(CROCC) c.3186+109C>T:-,NOT_FOUND:-,NOT_FOUND 1 17280107 rs141676483 T C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7774,C/0.2226;Gene=CROCC/NM_014675.4/1;CC=c.3186+131T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:19:0:0:0:6,13:185,411:16.22,0.00:0.00,0.00:16.22,0.00:0.94,0.00:0.00,0.00:0.94,0.00:56,52:181.7,10.8:0,0:0,0:100,114:30,37:47,27:NM_014675.3(CROCC) c.3186+131T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17280139 rs377197506 C T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7794,T/0.2206;NP=15;Gene=CROCC/NM_014675.4/1;CC=c.3186+163C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:13:0:0:0:9,4:272,127:0.00,11.12:0.00,0.00:0.00,11.12:0.00,0.79:0.00,0.00:0.00,0.79:40,40:14.0,131.0:0,0:0,0:93,65:56,86:38,16:-,NM_014675.3(CROCC) c.3186+163C>T:-,NOT_FOUND:-,NOT_FOUND 1 17280239 rs370186540 C T 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8169,T/0.1831;NP=48;Gene=CROCC/NM_014675.4/1;CC=c.3186+263C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,T:6:1:0:0:2,4:61,129:0.00,13.15:0.00,3.60:0.00,9.55:0.00,0.93:0.00,0.78:0.00,0.99:40,40:0.0,84.8:0,0:0,0:96,76:54,72:7,21:-,NM_014675.3(CROCC) c.3186+263C>T:-,NOT_FOUND:-,NOT_FOUND 1 17280254 rs373079204 C G 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.78,G/0.22;NP=70;PC=0.003;Gene=CROCC/NM_014675.4/1;CC=c.3186+278C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:7:2:0:0:2,5:64,133:0.00,13.83:0.00,6.36:0.00,7.47:0.00,0.98:0.00,0.93:0.00,1.00:40,60:0.0,109.6:0,0:0,0:111,81:39,67:7,22:-,NM_014675.3(CROCC) c.3186+278C>G:-,NOT_FOUND:-,NOT_FOUND 1 17280578 rs147342078 T C 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3223,C/0.6777;NP=2278;Gene=CROCC/NM_014675.4/1;CC=c.3187-140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:C,T:23:23:0:0:18,5:568,142:60.16,0.00:60.16,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,27:38.7,5.4:0,0:0,0:55,62:95,89:33,12:NM_014675.3(CROCC) c.3187-140T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17280853 . G . . NT END=17281228;NT GT ./. 1 17281003 rs2076606 T C 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.3275,C/0.6725;Gene=CROCC/NM_014675.4/1;CC=c.3321+151T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:16:0:0:22,18:634,564:61.77,0.00:25.37,0.00:36.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.4,19.3:0,0:0,0:81,61:69,88:44,47:NM_014675.3(CROCC) c.3321+151T>C,-:0.71,-:NOT_FOUND,- 1 17281373 . G . . NT END=17281806;NT GT ./. 1 17281759 rs151046905 C CG 121 idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.8003,CG/0.1997,CGG/.;NP=1;NP=1;NP=733;Gene=CROCC/NM_014675.4/1;CC=c.3466-41dupG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CG:69:68:41:0:30,39:981,1293:0.00,120.77:0.00,101.51:0.00,19.25:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.2,7.4:0,2:0,0:39,67:112,83:29,25:-,NM_014675.3(CROCC) c.3466-48_3466-47insG:-,0.18:-,NOT_FOUND 1 17282046 . G . . NT END=17282491;NT GT ./. 1 17282425 rs2143808 G A 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.8397,A/0.1603;Gene=CROCC/NM_014675.4/1;CC=c.3705-67G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:68:0:0:29,41:979,1126:91.18,0.00:80.34,0.00:10.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,13.1:0,0:0,0:52,50:96,99:31,27:NM_014675.3(CROCC) c.3705-67G>A,-:0.14,-:NOT_FOUND,- 1 17282573 rs2273114 G A 241 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=G/0.8397,A/0.1603;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.3786G>A;ProtCh=p.G1262=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:153:108:0:0:76,77:2513,2431:241.47,0.00:120.92,0.00:120.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,6.0:0,0:0,0:69,78:75,66:34,33:NM_014675.3(CROCC) c.3786G>A (p.(=)),-:0.14,-:0.12037,- 1 17282652 . G . . NT END=17285077;NT GT ./. 1 17285022 rs12097969 A G 128 nt VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.8151,G/0.1849;PC=0.009;Gene=CROCC/NM_014675.4/1;CC=c.3865-56A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:90:83:0:0:47,43:1540,1343:0.00,127.72:0.00,98.47:0.00,29.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,43.2:0,0:0,0:54,32:96,118:23,14:-,NM_014675.3(CROCC) c.3865-56A>G:-,0.16:-,NOT_FOUND 1 17285246 . G . . NT END=17287252;NT GT ./. 1 17285298 rs41300134 C T 105 nt VT=SNV;PN=G;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.8407,T/0.1593;PC=0.001;Gene=CROCC/NM_014675.4/1;CC=c.4032+53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:29:0:0:35,36:1089,1090:0.00,104.83:0.00,27.80:0.00,77.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.4,35.3:0,0:0,0:123,100:28,50:23,20:-,NM_014675.3(CROCC) c.4032+53C>T:-,0.14:-,NOT_FOUND 1 17285464 rs56013652 A G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8127,G/0.1873;Gene=CROCC/NM_014675.4/1;CC=c.4032+219A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:14:0:0:0:8,6:215,189:0.00,17.61:0.00,0.00:0.00,17.61:0.00,0.96:0.00,0.00:0.00,0.96:60,60:15.1,48.2:0,0:0,0:123,125:26,25:20,9:-,NM_014675.3(CROCC) c.4032+219A>G:-,0.16:-,NOT_FOUND 1 17287626 . G . . NT END=17292217;NT GT ./. 1 17287639 rs2273112 C T 267 nt VT=SNV;PN=C;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=C/0.8407,A/.,G/.,T/0.1593;Gene=CROCC/NM_014675.4/1;CC=c.4405+14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:177:86:0:0:84,1,92:2541,15,2759:0.00,-0.03,266.76:0.00,-0.07,96.77:0.00,0.04,169.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.5,15.0,43.3:0,0,0:0,0,0:91,115,88:56,36,56:25,0,28:-,NM_014675.3(CROCC) c.4405+14C>T:-,0.14:-,NOT_FOUND 1 17287666 rs576080244 G A 220 nt VT=SNV;PN=C;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.9974,A/0.002596;NP=11;Gene=CROCC/NM_014675.4/1;CC=c.4405+41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:151:66:0:0:69,81,1:2323,2439,13:220.36,0.00,-0.10:66.22,0.00,-0.06:154.14,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.9,43.4,151.0:0,0,0:0,0,0:105,98,86:40,53,29:18,24,0:NM_014675.3(CROCC) c.4405+41G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17292388 . G . . NT END=17292493;NT GT ./. 1 17292615 . G . . NT END=17292902;NT GT ./. 1 17293067 . G . . NT END=17294697;NT GT ./. 1 17294914 . G . . NT END=17295610;NT GT ./. 1 17295679 rs4920574 T C 604 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=164;DB;DBA=NA;PAF=T/0.05531,C/0.9447;PC=0.952;Gene=CROCC/NM_014675.4/1;CC=c.5145T>C;ProtCh=p.A1715=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:164:117:0:0:163,1:5289,22:603.86,0.00:311.65,0.00:292.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,157.0:0,0:0,0:71,56:76,76:28,0:NM_014675.3(CROCC) c.5145T>C (p.(=)),NM_014675.3(CROCC) c.5145T>C (p.(=)):0.94,0.94:0.926362,0.926362 1 17295836 . G . . NT END=17296279;NT GT ./. 1 17296430 . G . . NT END=17296747;NT GT ./. 1 17296949 . G . . NT END=17297130;NT GT ./. 1 17297263 . G . . NT END=17297959;NT GT ./. 1 17297289 rs9435656 C T 197 nt VT=SNV;PN=C;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=C/0.3608,T/0.6392;Gene=CROCC/NM_014675.4/1;CC=c.5784+27C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:141:74:0:0:77,64:2558,2082:0.00,196.52:0.00,76.17:0.00,120.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,37.6:0,0:0,0:93,106:48,35:30,23:-,NM_014675.3(CROCC) c.5784+27C>T:-,0.68:-,0.62244 1 17297705 . AGTGTGT A,AGTGTGTGT 18 idl,nt VT=INS;SST=Single;DP=17;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:65:AGTGTGT,AGTGTGTGT,A:14:13:6:8:3,6,5:79,188,217:0.00,18.39,12.93:0.00,15.54,11.16:0.00,2.85,1.78:0.00,0.95,0.00:0.00,0.99,0.00:0.00,0.93,0.00:60,60,60:35.3,33.2,38.4:0,0,3:0,0,0:56,67,41:94,83,108:18,22,24:NM_014675.3(CROCC) c.5785-254_5785-249delGTGTGT,NM_014675.3(CROCC) c.5785-250_5785-249dupGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17298143 . G . . NT END=17298854;NT GT ./. 1 17298942 . G . . NT END=17301414;NT GT ./. 1 17299013 rs201543544 CA C 7 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CA/0.5553,C/0.4447;NP=42;Gene=CROCC/NM_014675.4/1;CC=c.*73delA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CA,C:16:1:0:3:13,3:381,93:0.00,7.39:0.00,1.57:0.00,5.81:0.00,0.54:0.00,0.46:0.00,0.54:60,60:63.7,39.0:0,0:0,0:86,83:65,68:28,28:-,NM_014675.3(CROCC) c.*73delA:-,0.96:-,NOT_FOUND 1 17299014 rs68147645 A C 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=CROCC/NM_014675.4/1;CC=c.*73A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:0:0:3:12:371:42.81:0.00:42.81:1.00:0.00:1.00:60:63.8:0:0:82:69:20:NM_014675.3(CROCC) c.*73A>C,NM_014675.3(CROCC) c.*73A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17301448 rs2235933 C T 83 lc VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6589,T/0.3411;Gene=MFAP2/NM_001135248.1/0;CC=c.516G>A;ProtCh=p.A172=;VC=Silent;Gene=MFAP2/NM_002403.3/0;CC=c.519G>A;ProtCh=p.A173=;VC=Silent;Gene=MFAP2/NM_001135247.1/0;CC=c.516G>A;ProtCh=p.A172=;VC=Silent;Gene=MFAP2/NM_017459.2/1;CC=c.519G>A;ProtCh=p.A173=;VC=Silent;DM=MFAP2/ShK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:21:0:0:21:726:82.62:82.62:0.00:1.00:1.00:0.00:51:41.6:0:0:38:113:29:NM_017459.2(MFAP2) c.519G>A (p.(=)),NM_017459.2(MFAP2) c.519G>A (p.(=)):0.38,0.38:NOT_FOUND,NOT_FOUND 1 17301519 . C . . NT END=17301763;NT GT ./. 1 17301838 . C . . NT END=17302137;NT GT ./. 1 17301900 rs79784605 AGACAGAACCTGGCACGGGAGCCCG A 52 nt VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=AGACAGAACCTGGCACGGGAGCCCG/0.6923,A/0.3077;DB;DBA=NA;PAF=AGACAGAACCTGGCACGGGAGCCCG/0.6923,A/0.3077;NP=283;Gene=MFAP2/NM_001135248.1/0;CC=c.372-87_372-64delCGGGCTCCCGTGCCAGGTTCTGTC;VC=Intron;Gene=MFAP2/NM_002403.3/0;CC=c.375-87_375-64delCGGGCTCCCGTGCCAGGTTCTGTC;VC=Intron;Gene=MFAP2/NM_001135247.1/0;CC=c.372-87_372-64delCGGGCTCCCGTGCCAGGTTCTGTC;VC=Intron;Gene=MFAP2/NM_017459.2/1;CC=c.375-87_375-64delCGGGCTCCCGTGCCAGGTTCTGTC;VC=Intron;DM=MFAP2/MAGP;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGACAGAACCTGGCACGGGAGCCCG,A:57:29:0:20:37,20:1238,583:0.00,51.70:0.00,15.72:0.00,35.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.2,15.6:0,0:0,0:114,63:28,87:17,13:-,NM_017459.2(MFAP2) c.375-87_375-64delCGGGCTCCCGTGCCAGGTTCTGTC:-,0.41:-,0.277797 1 17301940 rs28623134 G T 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=48;PC=0.006;Gene=MFAP2/NM_001135248.1/0;CC=c.372-103C>A;VC=Intron;Gene=MFAP2/NM_002403.3/0;CC=c.375-103C>A;VC=Intron;Gene=MFAP2/NM_001135247.1/0;CC=c.372-103C>A;VC=Intron;Gene=MFAP2/NM_017459.2/1;CC=c.375-103C>A;VC=Intron;DM=MFAP2/MAGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:11:0:0:25,15:737,461:0.00,41.79:0.00,11.60:0.00,30.19:0.00,1.00:0.00,0.99:0.00,1.00:60,60:18.2,43.2:18,0:0,0:65,140:86,8:23,9:-,NM_017459.2(MFAP2) c.375-103C>A:-,NOT_FOUND:-,NOT_FOUND 1 17302226 . C . . NT END=17302995;NT GT ./. 1 17303041 . C . . NT END=17303202;NT GT ./. 1 17303290 . C . . NT END=17303391;NT GT ./. 1 17303419 . C . . NT END=17303603;NT GT ./. 1 17303694 . C . . NT END=17304731;NT GT ./. 1 17303792 rs4920588 C T 136 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.2206,T/0.7794;Gene=MFAP2/NM_001135248.1/0;CC=c.38-102G>A;VC=Intron;Gene=MFAP2/NM_002403.3/0;CC=c.38-99G>A;VC=Intron;Gene=MFAP2/NM_001135247.1/0;CC=c.38-102G>A;VC=Intron;Gene=MFAP2/NM_017459.2/1;CC=c.38-99G>A;VC=Intron;DM=MFAP2/MAGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:T:37:3:0:0:37:1188:136.44:7.60:128.84:1.00:1.00:1.00:60:45.1:0:0:94:57:36:NM_017459.2(MFAP2) c.38-99G>A,NM_017459.2(MFAP2) c.38-99G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 17304769 . G . . NT END=17312479;NT GT ./. 1 17312854 . C . . NT END=17312957;NT GT ./. 1 17313128 . C . . NT END=17313299;NT GT ./. 1 17313244 rs377380258 CCCCAGGGCTCCT C 204 idl,nt VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=304;Gene=ATP13A2/NM_001141973.2/0;CC=c.3220+44_3220+55delAGGAGCCCTGGG;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.3103+44_3103+55delAGGAGCCCTGGG;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.3235+44_3235+55delAGGAGCCCTGGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCCCAGGGCTCCT,C:74:45:0:66:12,62:384,1891:0.00,204.39:0.00,112.25:0.00,92.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,12.0:0,0:0,0:143,68:4,82:5,34:-,NM_022089.2(ATP13A2) c.3235+44_3235+55delAGGAGCCCTGGG:-,0.32:-,NOT_FOUND 1 17313256 . T C 13 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;Gene=ATP13A2/NM_001141973.2/0;CC=c.3220+44A>G;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.3103+44A>G;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.3235+44A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:66:4:114:13.30:6.75:6.55:1.00:1.00:1.00:60:48.0:2:0:16:135:16:NM_022089.2(ATP13A2) c.3235+44A>G,NM_022089.2(ATP13A2) c.3235+44A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17313452 . C . . NT END=17313540;NT GT ./. 1 17313454 rs7531163 G A 416 nt VT=SNV;PN=T;NN=G;SST=Single;DP=116;DB;DBA=in-clinvar;PAF=G/0.6935,A/0.3065;PC=0.895;Gene=ATP13A2/NM_001141973.2/0;CC=c.3069-3C>T;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.2952-3C>T;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.3084-3C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:116:82:0:0:115,1:3635,14:415.95,0.00:270.43,0.00:145.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,102.0:0,0:0,0:89,79:57,72:40,0:NM_022089.2(ATP13A2) c.3084-3C>T,NM_022089.2(ATP13A2) c.3084-3C>T:0.33,0.33:0.215285,0.215285 1 17313765 . C . . NT END=17314632;NT GT ./. 1 17314702 rs3738815 C T 315 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=in-clinvar;PAF=C/0.7091,A/.,T/0.2909;Gene=ATP13A2/NM_001141973.2/0;CC=c.2775G>A;ProtCh=p.S925=;VC=Silent;Gene=ATP13A2/NM_001141974.2/0;CC=c.2658G>A;ProtCh=p.S886=;VC=Silent;Gene=ATP13A2/NM_022089.3/1;CC=c.2790G>A;ProtCh=p.S930=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:87:78:0:0:1,86:35,2767:0.00,315.19:0.00,231.84:0.00,83.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,39.5:0,0:0,0:108,70:42,78:0,35:NM_022089.2(ATP13A2) c.2790G>A (p.(=)),NM_022089.2(ATP13A2) c.2790G>A (p.(=)):0.31,0.31:0.178072,0.178072 1 17314730 . C . . NT END=17314816;NT GT ./. 1 17314970 . C . . NT END=17316185;NT GT ./. 1 17315242 rs7553340 T C 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6941,C/0.3059;Gene=ATP13A2/NM_001141973.2/0;CC=c.2595-273A>G;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.2478-273A>G;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.2610-273A>G;VC=Intron;DM=ATP13A2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:227:26.04:0.00:26.04:1.00:0.00:1.00:60:38.7:0:0:107:44:21:NM_022089.2(ATP13A2) c.2610-273A>G,NM_022089.2(ATP13A2) c.2610-273A>G:0.32,0.32:NOT_FOUND,NOT_FOUND 1 17316266 . C . . NT END=17316381;NT GT ./. 1 17316499 . C . . NT END=17316621;NT GT ./. 1 17316783 . C . . NT END=17318228;NT GT ./. 1 17318065 rs2076604 T C 58 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7089,C/0.2911;Gene=ATP13A2/NM_001141973.2/0;CC=c.2236+164A>G;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.2236+164A>G;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.2251+164A>G;VC=Intron;DM=ATP13A2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:16:0:0:17:502:58.26:54.29:3.98:1.00:1.00:1.00:60:41.8:0:0:63:87:29:NM_022089.2(ATP13A2) c.2251+164A>G,NM_022089.2(ATP13A2) c.2251+164A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 1 17318354 . C . . NT END=17318503;NT GT ./. 1 17318625 . C . . NT END=17318737;NT GT ./. 1 17318898 . C . . NT END=17318980;NT GT ./. 1 17319077 . C . . NT END=17320123;NT GT ./. 1 17320331 . C . . NT END=17322470;NT GT ./. 1 17322660 . C . . NT END=17322748;NT GT ./. 1 17322796 . C . . NT END=17322880;NT GT ./. 1 17322992 . C . . NT END=17323514;NT GT ./. 1 17323198 rs2076602 A T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7089,T/0.2911;Gene=ATP13A2/NM_001141973.2/0;CC=c.1181-207T>A;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.1181-207T>A;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.1196-207T>A;VC=Intron;DM=ATP13A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:5:0:0:15:440:51.09:16.13:34.96:1.00:1.00:1.00:60:33.5:0:0:98:53:46:NM_022089.2(ATP13A2) c.1196-207T>A,NM_022089.2(ATP13A2) c.1196-207T>A:0.31,0.31:NOT_FOUND,NOT_FOUND 1 17323366 rs561011915 T TG 73 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=66;Gene=ATP13A2/NM_001141973.2/0;CC=c.1180+148_1180+149insC;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.1180+148_1180+149insC;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.1195+148_1195+149insC;VC=Intron;DM=ATP13A2/E1-E2_ATPase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T,TG:22:21:21:0:1,21:34,645:0.00,72.74:0.00,69.08:0.00,3.66:0.00,1.00:0.00,1.00:0.00,0.97:60,60:12.0,31.6:1,0:0,0:69,51:82,99:0,25:NM_022089.2(ATP13A2) c.1195+148_1195+149insC,NM_022089.2(ATP13A2) c.1195+148_1195+149insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 17323449 rs9435736 T C 192 nt VT=SNV;PN=C;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.2075,C/0.7925;Gene=ATP13A2/NM_001141973.2/0;CC=c.1180+66A>G;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.1180+66A>G;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.1195+66A>G;VC=Intron;DM=ATP13A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C:55:47:0:0:55:1660:192.06:135.16:56.89:1.00:1.00:1.00:60:40.4:0:0:34:114:25:NM_022089.2(ATP13A2) c.1195+66A>G,NM_022089.2(ATP13A2) c.1195+66A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 17323671 . C . . NT END=17326505;NT GT ./. 1 17326171 rs11583148 C T 13 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ATP13A2/NM_001141973.2/0;CC=c.1024+335G>A;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.1024+335G>A;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.1039+335G>A;VC=Intron;DM=ATP13A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:108:12.68:10.84:1.84:1.00:1.00:1.00:60:76.5:0:0:91:60:47:NM_022089.2(ATP13A2) c.1039+335G>A,NM_022089.2(ATP13A2) c.1039+335G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 17326638 . C . . NT END=17326740;NT GT ./. 1 17326808 . C . . NT END=17326894;NT GT ./. 1 17327030 . C . . NT END=17328528;NT GT ./. 1 17328599 . C . . NT END=17328790;NT GT ./. 1 17328869 . C . . NT END=17330826;NT GT ./. 1 17330907 . C . . NT END=17331186;NT GT ./. 1 17331317 . C . . NT END=17331508;NT GT ./. 1 17331568 . C . . NT END=17331868;NT GT ./. 1 17331676 rs3738814 A G 138 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.397,G/0.603;PC=0.008;Gene=ATP13A2/NM_001141973.2/0;CC=c.289-109T>C;VC=Intron;Gene=ATP13A2/NM_001141974.2/0;CC=c.289-109T>C;VC=Intron;Gene=ATP13A2/NM_022089.3/1;CC=c.289-109T>C;VC=Intron;DM=ATP13A2/E1-E2_ATPase;DM=ATP13A2/P5-ATPase;DM=ATP13A2/P5-ATPase;DM=ATP13A2/P5-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:14:0:0:39:1191:137.63:49.14:88.50:1.00:1.00:1.00:60:39.1:0:0:86:65:45:NM_022089.2(ATP13A2) c.289-109T>C,NM_022089.2(ATP13A2) c.289-109T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 17332052 . C . . NT END=17332178;NT GT ./. 1 17332274 . C . . NT END=17338223;NT GT ./. 1 17338234 . G . . NT END=17345375;NT GT ./. 1 17338460 rs56047197 G A 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6114,A/0.3886;Gene=ATP13A2/NM_001141973.2/0;CC=c.-227C>T;VC=5UTR;Gene=ATP13A2/NM_001141974.2/0;CC=c.-227C>T;VC=5UTR;Gene=ATP13A2/NM_022089.3/1;CC=c.-227C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:0:0:0:26:820:94.34:0.00:94.34:1.00:0.00:1.00:60:39.1:0:0:92:59:31:NM_022089.2(ATP13A2) c.-190-u37C>T,NM_022089.2(ATP13A2) c.-190-u37C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 1 17345454 . C . . NT END=17349102;NT GT ./. 1 17349226 . C . . NT END=17350467;NT GT ./. 1 17350570 . C . . NT END=17354243;NT GT ./. 1 17354361 . C . . NT END=17355094;NT GT ./. 1 17355232 . C . . NT END=17359554;NT GT ./. 1 17355387 rs2746469 T C 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.04093,C/0.9591;Gene=SDHB/NM_003000.2/1;CC=c.287-156A>G;VC=Intron;DM=SDHB/Fer2_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:0:0:0:16:549:62.53:0.00:62.53:1.00:0.00:1.00:60:40.6:0:0:98:51:24:NM_003000.2(SDHB) c.287-156A>G,NM_003000.2(SDHB) c.287-156A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 17359641 . C . . NT END=17371255;NT GT ./. 1 17359676 rs1022580 C A 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.04093,A/0.9591;Gene=SDHB/NM_003000.2/1;CC=c.201-36G>T;VC=Intron;DM=SDHB/Fer2_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:9:0:0:21:693:79.30:23.46:55.84:1.00:1.00:1.00:60:33.6:0:0:100:50:16:NM_003000.2(SDHB) c.201-36G>T,NM_003000.2(SDHB) c.201-36G>T:0.96,0.96:0.95233,0.95233 1 17371384 . C . . NT END=17380442;NT GT ./. 1 17380497 rs2746462 G T 220 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=in-clinvar;PAF=G/0.04293,C/.,T/0.9571;Gene=SDHB/NM_003000.2/1;CC=c.18C>A;ProtCh=p.A6=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:G,T:64:53:0:0:3,61:31,1956:0.00,220.01:0.00,118.14:0.00,101.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:102.3,36.2:0,0:0,0:112,63:39,67:16,31:NM_003000.2(SDHB) c.18C>A (p.(=)),NM_003000.2(SDHB) c.18C>A (p.(=)):0.95,0.95:0.951469,0.951469 1 17380515 . C . . NT END=17395538;NT GT ./. 1 17395773 . C . . NT END=17396582;NT GT ./. 1 17396408 rs6701620 T C 70 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.05232,C/0.9477;Gene=PADI2/NM_007365.2/1;CC=c.1764+175A>G;VC=Intron;DM=PADI2/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:20:0:0:20:606:70.08:68.19:1.89:1.00:1.00:1.00:60:41.8:0:0:50:101:18:NM_007365.2(PADI2) c.1764+175A>G,NM_007365.2(PADI2) c.1764+175A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 17396712 . C . . NT END=17397900;NT GT ./. 1 17397987 . C . . NT END=17401350;NT GT ./. 1 17401445 . C . . NT END=17402173;NT GT ./. 1 17402319 . C . . NT END=17405758;NT GT ./. 1 17402347 rs2647205 C T 195 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.01677,T/0.9832;Gene=PADI2/NM_007365.2/1;CC=c.1311-29G>A;VC=Intron;DM=PADI2/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:19:0:0:54:1688:194.53:44.91:149.62:1.00:1.00:1.00:60:47.3:0:0:97:53:28:NM_007365.2(PADI2) c.1311-29G>A,NM_007365.2(PADI2) c.1311-29G>A:0.97,0.97:0.97086,0.97086 1 17402420 rs2647204 A G 85 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5577,C/.,G/0.4423,T/.;Gene=PADI2/NM_007365.2/1;CC=c.1311-102T>C;VC=Intron;DM=PADI2/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:3:0:0:22:748:85.29:5.92:79.38:1.00:1.00:1.00:60:70.5:0:0:95:56:20:NM_007365.2(PADI2) c.1311-102T>C,NM_007365.2(PADI2) c.1311-102T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 1 17405911 . C . . NT END=17409039;NT GT ./. 1 17406015 rs2057093 C T 137 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.08666,T/0.9133;Gene=PADI2/NM_007365.2/1;CC=c.1159-105G>A;VC=Intron;DM=PADI2/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C,T:41:8:0:0:1,40:12,1196:0.00,136.84:0.00,20.81:0.00,116.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:87.0,40.2:0,0:0,0:7,118:143,30:0,22:NM_007365.2(PADI2) c.1159-105G>A,NM_007365.2(PADI2) c.1159-105G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 17409017 rs2076617 G A 138 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.6046,A/0.3954;Gene=PADI2/NM_007365.2/1;CC=c.1158+23C>T;VC=Intron;DM=PADI2/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:34:0:0:37:1206:138.21:107.39:30.82:1.00:1.00:1.00:60:37.2:0:0:47:104:28:NM_007365.2(PADI2) c.1158+23C>T,NM_007365.2(PADI2) c.1158+23C>T:0.38,0.38:0.304244,0.304244 1 17409148 . C . . NT END=17410220;NT GT ./. 1 17409241 rs2235925 G A 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.522,A/0.478;Gene=PADI2/NM_007365.2/1;CC=c.1051-94C>T;VC=Intron;DM=PADI2/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:0:0:0:20:585:67.99:0.00:67.99:1.00:0.00:1.00:60:44.5:0:0:119:32:15:NM_007365.2(PADI2) c.1051-94C>T,NM_007365.2(PADI2) c.1051-94C>T:0.45,0.45:NOT_FOUND,NOT_FOUND 1 17410333 . C . . NT END=17411093;NT GT ./. 1 17411198 . C . . NT END=17413015;NT GT ./. 1 17412770 rs2647185 G A 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.02117,A/0.9788;Gene=PADI2/NM_007365.2/1;CC=c.834+246C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:44.0:0:0:45:106:7:NM_007365.2(PADI2) c.834+246C>T,NM_007365.2(PADI2) c.834+246C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 17413121 rs2076615 A C 123 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.6364,C/0.3636;Gene=PADI2/NM_007365.2/1;CC=c.729T>G;ProtCh=p.G243=;VC=Silent;DM=PADI2/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:84:60:0:0:44,40:1413,1291:0.00,122.96:0.00,54.77:0.00,68.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,41.1:0,0:0,0:76,64:74,84:38,40:-,NM_007365.2(PADI2) c.729T>G (p.(=)):-,0.33:-,0.251346 1 17413195 . C . . NT END=17418902;NT GT ./. 1 17418883 rs2647184 A G 293 nt VT=SNV;PN=G;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.02436,G/0.9756;PC=0.047;Gene=PADI2/NM_007365.2/1;CC=c.655+20T>C;VC=Intron;DM=PADI2/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:79:65:0:0:1,78:9,2561:0.10,292.61:0.00,193.13:0.10,99.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:156.0,45.9:0,0:0,0:95,55:29,90:0,32:NM_007365.2(PADI2) c.655+20T>C,NM_007365.2(PADI2) c.655+20T>C:0.96,0.96:0.949716,0.949716 1 17419024 rs11203297 G A 117 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.7187,A/0.2813,C/.;PC=1.000;Gene=PADI2/NM_007365.2/1;CC=c.534C>T;ProtCh=p.L178=;VC=Silent;DM=PADI2/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:53:0:0:41,51:1252,1661:117.29,0.00:43.02,0.00:74.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,12.0:0,0:0,0:77,91:74,60:31,31:NM_007365.2(PADI2) c.534C>T (p.(=)),-:0.26,-:0.167922,- 1 17419029 . C . . NT END=17420061;NT GT ./. 1 17420180 . C . . NT END=17422403;NT GT ./. 1 17422466 . C . . NT END=17429481;NT GT ./. 1 17429555 . C . . NT END=17431372;NT GT ./. 1 17429774 rs2235909 G T 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5186,T/0.4814;Gene=PADI2/NM_007365.2/1;CC=c.277-220C>A;VC=Intron;DM=PADI2/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:283:32.55:0.00:32.55:1.00:0.00:1.00:60:40.4:0:0:91:60:13:NM_007365.2(PADI2) c.277-220C>A,NM_007365.2(PADI2) c.277-220C>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 17431277 rs6701159 G T 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.2885,T/0.7115;Gene=PADI2/NM_007365.2/1;CC=c.276+96C>A;VC=Intron;DM=PADI2/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:31:30:0:0:17,14:539,417:0.00,39.09:0.00,37.66:0.00,1.42:0.00,1.00:0.00,1.00:0.00,0.85:60,60:0.6,39.9:0,0:0,0:53,40:98,110:32,28:-,NM_007365.2(PADI2) c.276+96C>A:-,0.71:-,NOT_FOUND 1 17431557 . C . . NT END=17445774;NT GT ./. 1 17431618 rs11203300 A G 67 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.3033,G/0.6967;Gene=PADI2/NM_007365.2/1;CC=c.93-62T>C;VC=Intron;DM=PADI2/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:14:0:0:23,21:732,699:0.00,66.69:0.00,11.46:0.00,55.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,60.9:0,0:0,0:93,110:52,35:35,29:-,NM_007365.2(PADI2) c.93-62T>C:-,0.72:-,NOT_FOUND 1 17431681 rs2647172 C A 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.2624,A/0.7376;Gene=PADI2/NM_007365.2/1;CC=c.93-125G>T;VC=Intron;DM=PADI2/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:0:0:0:10,11:345,305:33.02,0.00:0.00,0.00:33.02,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.6,7.8:0,0:0,0:118,118:32,33:22,21:NM_007365.2(PADI2) c.93-125G>T,-:0.73,-:NOT_FOUND,- 1 17445867 . C . . NT END=17531712;NT GT ./. 1 17453355 . C G 9 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;NP=1;PC=0.084 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,G:4:0:0:0:1,3:24,87:0.00,9.15:0.00,0.00:0.00,9.15:0.00,0.85:0.00,0.00:0.00,0.85:60,10:0.0,106.3:0,0:0,0:91,102:59,11:0,1:-,NM_007365.2(PADI2) c.-82-u7407G>C:-,NOT_FOUND:-,NOT_FOUND 1 17453371 . A G 11 end;mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;PC=0.044 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:0:0:0:1,3:33,105:0.00,10.95:0.00,0.00:0.00,10.95:0.00,0.85:0.00,0.00:0.00,0.85:60,10:0.0,106.3:0,0:0,0:107,118:43,-5:0,1:-,NM_007365.2(PADI2) c.-82-u7423T>C:-,NOT_FOUND:-,NOT_FOUND 1 17453375 . C T 10 end;mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:0:0:0:1,3:30,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,10:0.0,106.3:0,0:0,0:111,122:39,-9:0,1:-,NM_007365.2(PADI2) c.-82-u7427G>A:-,NOT_FOUND:-,NOT_FOUND 1 17531763 rs2293911 C T 128 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.9561,T/0.04393;Gene=PADI1/NM_013358.2/1;CC=c.51C>T;ProtCh=p.A17=;VC=Silent;DM=PADI1/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:83:64:0:0:1,42,40:11,1282,1334:-0.07,0.00,127.80:-0.12,0.00,72.81:0.05,0.00,54.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:58.0,11.7,45.8:0,0,0:0,0,0:103,83,92:48,56,45:0,41,36:-,NM_013358.2(PADI1) c.51C>T (p.(=)):-,0.04:-,0.061203 1 17531805 . G . . NT END=17548784;NT GT ./. 1 17531921 rs534050281 C A 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.9547,A/0.04413;DB;DBA=NA;PAF=C/0.9547,CA/0.001198;Gene=PADI1/NM_013358.2/1;CC=c.92+117C>A;VC=Intron;DM=PADI1/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:25:0:0:0:11,14:339,442:31.71,0.00:0.00,0.00:31.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.3,15.6:0,0:0,0:110,128:41,22:22,19:NM_013358.2(PADI1) c.92+117C>A,-:0.04,-:NOT_FOUND,- 1 17548966 . G . . NT END=17550115;NT GT ./. 1 17550121 rs2293912 G A 140 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.8532,A/0.1468;PC=1.000;Gene=PADI1/NM_013358.2/1;CC=c.279G>A;ProtCh=p.R93=;VC=Silent;DM=PADI1/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:96:79:0:0:45,51:1474,1584:140.04,0.00:72.20,0.00:67.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.0,15.6:0,0:0,0:37,54:105,91:28,23:NM_013358.2(PADI1) c.279G>A (p.(=)),-:0.15,-:0.124173,- 1 17550189 . G . . NT END=17550861;NT GT ./. 1 17550225 rs3003481 T C 236 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.003195,C/0.9968;NP=3447;Gene=PADI1/NM_013358.2/1;CC=c.346+37T>C;VC=Intron;DM=PADI1/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:66:27:0:0:66:2046:236.05:71.22:164.83:1.00:1.00:1.00:60:51.4:0:0:118:31:18:NM_013358.2(PADI1) c.346+37T>C,NM_013358.2(PADI1) c.346+37T>C:1,1:0.99777,0.99777 1 17550303 rs2293913 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7632,C/0.2368;Gene=PADI1/NM_013358.2/1;CC=c.346+115T>C;VC=Intron;DM=PADI1/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:1:0:0:8,11:232,336:21.40,0.00:2.70,0.00:18.70,0.00:0.99,0.00:0.61,0.00:1.00,0.00:60,60:61.1,57.1:0,0:0,0:101,85:49,66:32,33:NM_013358.2(PADI1) c.346+115T>C,-:0.24,-:NOT_FOUND,- 1 17550314 rs2293914 G A 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.8395,A/0.1605;Gene=PADI1/NM_013358.2/1;CC=c.346+126G>A;VC=Intron;DM=PADI1/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:11,7:303,214:30.25,0.00:0.00,0.00:30.25,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.1,61.1:0,0:0,0:82,112:68,39:42,27:NM_013358.2(PADI1) c.346+126G>A,-:0.16,-:NOT_FOUND,- 1 17550924 . G . . NT END=17552305;NT GT ./. 1 17552424 . G . . NT END=17552527;NT GT ./. 1 17552654 . G . . NT END=17555119;NT GT ./. 1 17552875 rs2977290 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2843,G/0.7157;Gene=PADI1/NM_013358.2/1;CC=c.652+222A>G;VC=Intron;DM=PADI1/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:256:29.81:0.00:29.81:1.00:0.00:1.00:60:55.7:0:0:131:16:17:NM_013358.2(PADI1) c.652+222A>G,NM_013358.2(PADI1) c.652+222A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 17554853 rs10127662 T G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9038,G/0.09625;Gene=PADI1/NM_013358.2/1;CC=c.653-267T>G;VC=Intron;DM=PADI1/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:G,T:8:8:0:0:6,2:186,59:19.51,0.00:19.51,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.2,11.0:0,0:0,0:40,21:109,129:30,20:NM_013358.2(PADI1) c.653-267T>G,-:0.09,-:NOT_FOUND,- 1 17555293 . G . . NT END=17555442;NT GT ./. 1 17555547 . G . . NT END=17556579;NT GT ./. 1 17556704 . G . . NT END=17557066;NT GT ./. 1 17557039 rs10888010 T C 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.5198,C/0.4802;Gene=PADI1/NM_013358.2/1;CC=c.1054-28T>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:25:0:0:16,16:497,480:47.71,0.00:29.66,0.00:18.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.4,17.9:0,0:0,0:26,46:105,98:19,35:NM_013358.2(PADI1) c.1054-28T>C,-:0.45,-:0.468092,- 1 17557133 rs3003406 A C 75 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.5921,C/0.4079,T/.;Gene=PADI1/NM_013358.2/1;CC=c.1120A>C;ProtCh=p.R374=;VC=Silent;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:39:30:0:0:15,24:531,750:0.00,75.14:0.00,36.03:0.00,39.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,50.1:0,0:0,0:74,94:77,52:28,22:-,NM_013358.2(PADI1) c.1120A>C (p.(=)):-,0.39:-,0.412502 1 17557175 . G . . NT END=17559313;NT GT ./. 1 17557310 rs3003407 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5389,A/0.4611;Gene=PADI1/NM_013358.2/1;CC=c.1161+136G>A;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:8:1:0:0:4,4:118,130:11.30,0.00:1.74,0.00:9.56,0.00:0.87,0.00:0.67,0.00:0.87,0.00:60,60:69.2,11.5:0,0:0,0:121,73:30,77:9,33:NM_013358.2(PADI1) c.1161+136G>A,-:0.42,-:NOT_FOUND,- 1 17559466 . G . . NT END=17563808;NT GT ./. 1 17559599 rs3750295 A T 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9493,T/0.05072;Gene=PADI1/NM_013358.2/1;CC=c.1313+134A>T;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:32:0:0:0:22,10:641,312:0.00,27.35:0.00,0.00:0.00,27.35:0.00,1.00:0.00,0.00:0.00,1.00:60,60:26.5,51.0:0,0:0,0:98,87:52,63:36,13:-,NM_013358.2(PADI1) c.1313+134A>T:-,0.06:-,NOT_FOUND 1 17559656 rs3750296 G C 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6218,C/0.3782;Gene=PADI1/NM_013358.2/1;CC=c.1313+191G>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:0:0:0:11,8:362,239:35.85,0.00:0.00,0.00:35.85,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:56.0,52.4:0,0:0,0:102,134:49,16:36,10:NM_013358.2(PADI1) c.1313+191G>C,-:0.33,-:NOT_FOUND,- 1 17559676 rs3750297 G A 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7286,A/0.2714;Gene=PADI1/NM_013358.2/1;CC=c.1313+211G>A;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:9:0:0:0:6,3:199,99:20.27,0.00:0.00,0.00:20.27,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:70.5,66.0:0,0:0,0:86,116:64,34:3,32:NM_013358.2(PADI1) c.1313+211G>A,-:0.25,-:NOT_FOUND,- 1 17563954 . G . . NT END=17565110;NT GT ./. 1 17563967 rs2977306 T C 90 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.516,C/0.484;Gene=PADI1/NM_013358.2/1;CC=c.1458+14T>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:24:0:0:30,37:955,1169:89.79,0.00:23.09,0.00:66.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,7.2:0,0:0,0:85,100:64,47:31,30:NM_013358.2(PADI1) c.1458+14T>C,-:0.45,-:0.454944,- 1 17564826 rs2977308 G C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1006,C/0.8994;Gene=PADI1/NM_013358.2/1;CC=c.1459-285G>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:118:13.71:13.71:0.00:1.00:1.00:0.00:60:74.2:0:0:35:115:21:NM_013358.2(PADI1) c.1459-285G>C,NM_013358.2(PADI1) c.1459-285G>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 17564895 rs2977309 G C 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1008,C/0.8992;Gene=PADI1/NM_013358.2/1;CC=c.1459-216G>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:245:28.31:28.31:0.00:1.00:1.00:0.00:60:68.8:0:0:64:87:32:NM_013358.2(PADI1) c.1459-216G>C,NM_013358.2(PADI1) c.1459-216G>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 17564990 rs2977310 T C 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4667,C/0.5333;Gene=PADI1/NM_013358.2/1;CC=c.1459-121T>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:16:0:0:16:512:58.77:58.77:0.00:1.00:1.00:0.00:60:52.4:0:0:73:76:19:NM_013358.2(PADI1) c.1459-121T>C,NM_013358.2(PADI1) c.1459-121T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 17565205 . G . . NT END=17566198;NT GT ./. 1 17566279 . G . . NT END=17567129;NT GT ./. 1 17567256 . G . . NT END=17570504;NT GT ./. 1 17567331 rs112842996 G T 95 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.969,T/0.03095;Gene=PADI1/NM_013358.2/1;CC=c.1758+76G>T;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:47:24:0:0:1,17,29:9,564,941:-0.01,0.00,94.75:-0.04,0.00,31.94:0.03,0.00,62.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:133.0,4.5,36.3:0,0,0:0,0,0:128,98,100:23,53,40:0,19,18:-,NM_013358.2(PADI1) c.1758+76G>T:-,0.03:-,NOT_FOUND 1 17570286 rs2977222 T C 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=PADI1/NM_013358.2/1;CC=c.1759-219T>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:247:28.04:28.04:0.00:1.00:1.00:0.00:60:47.9:0:0:30:121:19:NM_013358.2(PADI1) c.1759-219T>C,NM_013358.2(PADI1) c.1759-219T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 17570466 rs2293921 T C 89 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.4878,C/0.5122;Gene=PADI1/NM_013358.2/1;CC=c.1759-39T>C;VC=Intron;DM=PADI1/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:41:0:0:27,20:905,659:89.46,0.00:68.68,0.00:20.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,2.1:0,0:0,0:42,73:106,77:19,48:NM_013358.2(PADI1) c.1759-39T>C,-:0.48,-:0.492617,- 1 17570739 . G . . NT END=17575632;NT GT ./. 1 17575725 . G . . NT END=17586072;NT GT ./. 1 17586254 . G . . NT END=17588627;NT GT ./. 1 17588701 . G . . NT END=17592153;NT GT ./. 1 17590826 rs66765916 TAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.5122,T/0.2278;NP=91;Gene=PADI3/NM_016233.2/1;CC=c.347-1297_347-1296delAC;VC=Intron;DM=PADI3/PAD_M;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TAC,T:3:4:0:3:1,2:33,98:0.00,6.45:0.00,4.66:0.00,1.79:0.00,0.51:0.00,0.51:0.00,0.67:60,60:0.0,0.0:0,1:0,0:137,70:13,43:0,37:-,NM_016233.2(PADI3) c.347-1327_347-1326delAC:-,NOT_FOUND:-,NOT_FOUND 1 17592216 . G . . NT END=17593213;NT GT ./. 1 17593144 rs2272628 C G 75 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.4722,G/0.5278,T/.;Gene=PADI3/NM_016233.2/1;CC=c.409-70C>G;VC=Intron;DM=PADI3/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:46:42:0:0:22,23,1:706,771,8:0.00,74.54,-0.09:0.00,63.08,-0.06:0.00,11.46,-0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.9,37.5,151.0:0,0,0:0,0,0:28,34,52:122,117,57:20,15,0:-,NM_016233.2(PADI3) c.409-70C>G:-,0.49:-,NOT_FOUND 1 17593332 . G . . NT END=17594331;NT GT ./. 1 17594458 . G . . NT END=17596727;NT GT ./. 1 17596907 . G . . NT END=17597373;NT GT ./. 1 17596980 rs71575824 C CA 12 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=3;Gene=PADI3/NM_016233.2/1;CC=c.831+88_831+89insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,C,CA,D:34:8:8:6:1,21,7,5:9,481,185,168:-0.07,0.00,12.31,10.35:-0.04,0.00,0.75,2.38:-0.03,0.00,11.56,7.97:0.00,0.00,0.94,0.00:0.00,0.00,0.78,0.00:0.00,0.00,1.00,0.00:60,60,70,60:67.0,48.2,40.1,12.2:0,0,1,1:0,0,0,0:130,108,71,108:20,41,65,42:0,22,36,9:-,NM_016233.2(PADI3) c.831+74_831+75insA:-,NOT_FOUND:-,NOT_FOUND 1 17597181 rs10888013 A G 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4792,G/0.5208;Gene=PADI3/NM_016233.2/1;CC=c.832-193A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G:8:6:0:0:3,5:75,165:0.00,16.59:0.00,13.14:0.00,3.45:0.00,0.97:0.00,1.00:0.00,0.88:60,60:10.7,37.0:0,0:0,0:42,34:108,117:31,21:-,NM_016233.2(PADI3) c.832-193A>G:-,0.48:-,NOT_FOUND 1 17597314 rs397840090 T TC 50 rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.7688,TC/0.2312;DB;DBA=NA;PAF=T/0.7688,TC/0.2312;NP=1354;PC=0.003;Gene=PADI3/NM_016233.2/1;CC=c.832-54_832-53insC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TC:41:39:18:0:23,18:630,537:0.00,50.11:0.00,39.47:0.00,10.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.9,13.2:2,0:0,0:58,21:93,124:34,7:-,NM_016233.2(PADI3) c.832-60_832-59insC:-,0.25:-,NOT_FOUND 1 17597478 . G . . NT END=17597561;NT GT ./. 1 17597674 . G . . NT END=17599834;NT GT ./. 1 17599525 rs3003433 T G 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.03195,G/0.9681;Gene=PADI3/NM_016233.2/1;CC=c.1048-310T>G;VC=Intron;DM=PADI3/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:187:21.56:21.56:0.00:1.00:1.00:0.00:60:36.3:0:0:42:107:17:NM_016233.2(PADI3) c.1048-310T>G,NM_016233.2(PADI3) c.1048-310T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 17599943 . G . . NT END=17601129;NT GT ./. 1 17601083 rs2293917 C T 77 nt VT=SNV;PN=C;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.6306,T/0.3694;Gene=PADI3/NM_016233.2/1;CC=c.1156-47C>T;VC=Intron;DM=PADI3/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:52:0:0:29,26:895,810:0.00,76.88:0.00,62.87:0.00,14.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,41.0:0,0:0,0:59,49:89,102:29,24:-,NM_016233.2(PADI3) c.1156-47C>T:-,0.38:-,0.43034 1 17601282 . G . . NT END=17603013;NT GT ./. 1 17601419 rs2977297 C G 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.005591,G/0.9944;NP=1673;Gene=PADI3/NM_016233.2/1;CC=c.1307+138C>G;VC=Intron;DM=PADI3/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:361:42.22:0.00:42.22:1.00:0.00:1.00:60:52.8:0:0:101:50:21:NM_016233.2(PADI3) c.1307+138C>G,NM_016233.2(PADI3) c.1307+138C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 17603159 . G . . NT END=17603268;NT GT ./. 1 17603372 . G . . NT END=17606844;NT GT ./. 1 17603436 rs80012763 A G 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9431,G/0.05691;Gene=PADI3/NM_016233.2/1;CC=c.1555+65A>G;VC=Intron;DM=PADI3/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:8:0:0:16,16:517,485:0.00,46.39:0.00,6.76:0.00,39.64:0.00,1.00:0.00,0.87:0.00,1.00:60,60:3.9,39.2:0,0:0,0:117,114:33,37:18,22:-,NM_016233.2(PADI3) c.1555+65A>G:-,0.05:-,NOT_FOUND 1 17606572 rs3003439 C A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.03415,A/0.9659;Gene=PADI3/NM_016233.2/1;CC=c.1556-273C>A;VC=Intron;DM=PADI3/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:142:16.54:16.54:0.00:1.00:1.00:0.00:60:46.0:0:0:33:118:32:NM_016233.2(PADI3) c.1556-273C>A,NM_016233.2(PADI3) c.1556-273C>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 17606925 . G . . NT END=17607165;NT GT ./. 1 17607068 rs2272630 T C 100 nt VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.6264,C/0.3736;Gene=PADI3/NM_016233.2/1;CC=c.1636-98T>C;VC=Intron;DM=PADI3/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:53:36:0:0:31,1,21:1005,9,698:100.05,-0.04,0.00:50.92,0.01,0.00:49.13,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.1,144.0,2.4:0,0,0:0,0,0:54,2,39:97,149,112:34,0,17:NM_016233.2(PADI3) c.1636-98T>C,-:0.38,-:NOT_FOUND,- 1 17607292 . G . . NT END=17609340;NT GT ./. 1 17609575 . G . . NT END=17634717;NT GT ./. 1 17609745 rs16824888 C A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9423,A/0.05771;Gene=PADI3/NM_016233.2/1;CC=c.*171C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:15:0:0:0:7,8:193,220:18.11,0.00:0.00,0.00:18.11,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:32.1,44.1:0,0:0,0:101,128:50,22:41,13:NM_016233.2(PADI3) c.*171C>A,-:0.05,-:NOT_FOUND,- 1 17631652 rs11800688 C T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8015,T/0.1985 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:4:4:0:0:2,2:70,70:0.00,6.75:0.00,3.38:0.00,3.38:0.00,0.51:0.00,0.51:0.00,0.51:60,60:0.0,65.5:0,0:0,0:65,67:51,55:21,42:-,NM_012387.2(PADI4) c.-28-u3038C>T:-,0.18:-,NOT_FOUND 1 17631663 rs139616381 TGA T 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TGA,T:4:4:0:2:2,2:69,67:0.00,6.45:0.00,3.22:0.00,3.22:0.00,0.51:0.00,0.51:0.00,0.51:60,60:61.5,0.0:1,0:0,0:80,76:42,40:40,21:-,NM_012387.2(PADI4) c.-28-u3026_-28-u3025delGA:-,0.55:-,NOT_FOUND 1 17634810 . G . . NT END=17657463;NT GT ./. 1 17635036 rs2501798 G C 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.07228,C/0.9277;Gene=PADI4/NM_012387.2/1;CC=c.92+227G>C;VC=Intron;DM=PADI4/PAD_N;DM=PADI4/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:334:38.60:0.00:38.60:1.00:0.00:1.00:60:53.6:0:0:115:36:17:NM_012387.2(PADI4) c.92+227G>C,NM_012387.2(PADI4) c.92+227G>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 17635072 rs2501799 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.07548,G/0.9245;Gene=PADI4/NM_012387.2/1;CC=c.92+263A>G;VC=Intron;DM=PADI4/PAD_N;DM=PADI4/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:161:18.48:0.00:18.48:1.00:0.00:1.00:60:74.8:0:0:105:44:29:NM_012387.2(PADI4) c.92+263A>G,NM_012387.2(PADI4) c.92+263A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 17657645 . G . . NT END=17660437;NT GT ./. 1 17660505 . G . . NT END=17662653;NT GT ./. 1 17662705 rs12733102 G C 114 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.9914,C/0.008586;Gene=PADI4/NM_012387.2/1;CC=c.392G>C;ProtCh=p.R131T;VC=Missense;DM=PADI4/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:60:36:0:0:34,26:1159,834:114.29,0.00:53.95,0.00:60.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,5.2:0,0:0,0:94,96:42,55:37,28:NM_012387.2(PADI4) c.392G>C (p.Arg131Thr),-:0.01,-:0.016761,- 1 17662722 . G . . NT END=17664532;NT GT ./. 1 17664651 . G . . NT END=17666182;NT GT ./. 1 17666004 rs35442836 A C 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9914,C/0.008586;PC=0.002;Gene=PADI4/NM_012387.2/1;CC=c.527-179A>C;VC=Intron;DM=PADI4/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,C:18:18:0:0:5,13:145,378:0.00,39.35:0.00,39.35:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.6,66.7:0,0:0,0:71,59:60,92:28,16:-,NM_012387.2(PADI4) c.527-179A>C:-,0.01:-,NOT_FOUND 1 17666309 . G . . NT END=17668437;NT GT ./. 1 17666508 rs11203368 C T 32 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4627,T/0.5373;Gene=PADI4/NM_012387.2/1;CC=c.652+200C>T;VC=Intron;DM=PADI4/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,T:15:3:0:0:5,10:176,317:0.00,32.32:0.00,-0.95:0.00,33.28:0.00,1.00:0.00,0.97:0.00,1.00:60,60:25.8,60.3:0,0:0,0:72,130:78,19:4,11:-,NM_012387.2(PADI4) c.652+200C>T:-,0.56:-,NOT_FOUND 1 17666547 rs1635575 G A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=29;Gene=PADI4/NM_012387.2/1;CC=c.652+239G>A;VC=Intron;DM=PADI4/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:8:3:0:2:6,2:193,71:20.21,0.00:7.40,0.00:12.80,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:48.3,50.0:0,1:0,0:110,115:40,36:3,4:NM_012387.2(PADI4) c.652+239G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17668270 rs1748021 A G 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.3632,G/0.6368;Gene=PADI4/NM_012387.2/1;CC=c.653-168A>G;VC=Intron;DM=PADI4/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,G:12:12:0:0:5,7:167,196:0.00,19.39:0.00,19.39:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.2,37.1:0,0:0,0:71,45:80,106:41,37:-,NM_012387.2(PADI4) c.653-168A>G:-,0.66:-,NOT_FOUND 1 17668617 . G . . NT END=17668793;NT GT ./. 1 17668888 rs33981382 A G 104 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.9948,G/0.005192;NP=63;PC=0.998;Gene=PADI4/NM_012387.2/1;CC=c.926A>G;ProtCh=p.Y309C;VC=Missense;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:65:45:0:0:31,33,1:952,1080,10:0.00,104.48,-0.06:0.00,38.71,0.03:0.00,65.77,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.9,42.4,45.0:0,0,0:0,0,0:89,101,126:57,48,25:21,32,0:-,NM_012387.2(PADI4) c.926A>G (p.Tyr309Cys):-,0.01:-,0.007843 1 17668898 . G . . NT END=17672522;NT GT ./. 1 17672635 . G . . NT END=17674435;NT GT ./. 1 17674358 rs35287029 T A 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.9856,A/0.01438;Gene=PADI4/NM_012387.2/1;CC=c.1048-78T>A;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:27:0:0:14,13:408,401:39.26,0.00:34.39,0.00:4.87,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:67.6,9.8:0,0:0,0:48,77:103,74:34,47:NM_012387.2(PADI4) c.1048-78T>A,-:0.02,-:NOT_FOUND,- 1 17674402 rs2240336 C T 81 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.5006,T/0.4994;Gene=PADI4/NM_012387.2/1;CC=c.1048-34C>T;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:35:0:0:14,25:417,800:0.00,80.84:0.00,63.36:0.00,17.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.5,54.1:0,0:0,0:56,36:95,115:29,15:-,NM_012387.2(PADI4) c.1048-34C>T:-,0.51:-,0.443103 1 17674544 . G . . NT END=17681027;NT GT ./. 1 17674717 rs12746252 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.987,T/0.01298;Gene=PADI4/NM_012387.2/1;CC=c.1155+174C>T;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:8:0:0:0:4,4:139,124:0.00,11.90:0.00,0.00:0.00,11.90:0.00,0.87:0.00,0.00:0.00,0.87:60,60:0.0,56.2:0,0:0,0:123,105:27,44:18,30:-,NM_012387.2(PADI4) c.1155+174C>T:-,0.02:-,NOT_FOUND 1 17681183 . G . . NT END=17682477;NT GT ./. 1 17681277 rs6683201 T C 113 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2246,C/0.7754;Gene=PADI4/NM_012387.2/1;CC=c.1310+95T>C;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:12:0:0:31:983:113.03:23.99:89.05:1.00:1.00:1.00:60:40.4:0:0:89:62:37:NM_012387.2(PADI4) c.1310+95T>C,NM_012387.2(PADI4) c.1310+95T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 17681424 rs4920600 A G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2083,G/0.7917;Gene=PADI4/NM_012387.2/1;CC=c.1310+242A>G;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:184:21.23:0.00:21.23:1.00:0.00:1.00:60:53.2:0:0:86:65:21:NM_012387.2(PADI4) c.1310+242A>G,NM_012387.2(PADI4) c.1310+242A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 17682623 . G . . NT END=17682851;NT GT ./. 1 17682955 . G . . NT END=17685332;NT GT ./. 1 17683041 rs1635567 T C 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.247,C/0.753;Gene=PADI4/NM_012387.2/1;CC=c.1558+87T>C;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:0:0:0:16:502:57.81:0.00:57.81:1.00:0.00:1.00:60:45.5:0:0:121:30:18:NM_012387.2(PADI4) c.1558+87T>C,NM_012387.2(PADI4) c.1558+87T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 17683157 rs1635566 A G 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2841,G/0.7159;PC=0.001;Gene=PADI4/NM_012387.2/1;CC=c.1558+203A>G;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:170:19.83:0.00:19.83:1.00:0.00:1.00:60:58.5:0:0:106:44:16:NM_012387.2(PADI4) c.1558+203A>G,NM_012387.2(PADI4) c.1558+203A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 17685174 rs2428735 T C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2402,C/0.7598;PC=0.001;Gene=PADI4/NM_012387.2/1;CC=c.1559-159T>C;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:33.2:0:0:59:92:19:NM_012387.2(PADI4) c.1559-159T>C,NM_012387.2(PADI4) c.1559-159T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 17685404 . G . . NT END=17685774;NT GT ./. 1 17685466 rs34481461 C A 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.8514,A/0.1486;PC=0.001;Gene=PADI4/NM_012387.2/1;CC=c.1629+63C>A;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:13:0:0:10,16:321,521:29.35,0.00:15.97,0.00:13.38,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:35.7,4.3:0,0:0,0:102,117:32,34:30,24:NM_012387.2(PADI4) c.1629+63C>A,-:0.15,-:0.149365,- 1 17685904 . G . . NT END=17690016;NT GT ./. 1 17685917 rs11203372 G A 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.9804,A/0.01957;Gene=PADI4/NM_012387.2/1;CC=c.1758+14G>A;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:56:0:0:39,47:1320,1439:124.95,0.00:52.53,0.00:72.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,11.7:0,0:0,0:61,65:79,81:34,32:NM_012387.2(PADI4) c.1758+14G>A,-:0.01,-:0.021375,- 1 17689954 rs2477150 C T 69 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7796,T/0.2204;Gene=PADI4/NM_012387.2/1;CC=c.1759-63C>T;VC=Intron;DM=PADI4/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:42:0:0:23,23:669,716:0.00,68.73:0.00,53.20:0.00,15.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,50.1:0,0:0,0:29,41:121,110:22,35:-,NM_012387.2(PADI4) c.1759-63C>T:-,0.23:-,NOT_FOUND 1 17690251 . G . . NT END=17698740;NT GT ./. 1 17698560 rs1204874 A C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7384,C/0.2616;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,C:11:11:0:0:5,6:152,199:0.00,19.47:0.00,19.47:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:5.0,44.7:0,0:0,0:21,43:130,104:10,9:-,NM_207421.3(PADI6) c.1-u181A>C:-,0.26:-,NOT_FOUND 1 17698725 rs1204873 C T 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7386,T/0.2614;Gene=PADI6/NM_207421.4/1;CC=c.-16C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:36:0:0:28,18:969,564:0.00,51.60:0.00,29.45:0.00,22.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,34.2:0,0:0,0:49,58:96,89:20,22:-,NM_207421.3(PADI6) c.1-u16C>T:-,0.26:-,0.255521 1 17698857 . G . . NT END=17699550;NT GT ./. 1 17698891 rs6700319 C T 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8025,T/0.1975;Gene=PADI6/NM_207421.4/1;CC=c.116+35C>T;VC=Intron;DM=PADI6/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:12:0:0:17,16:578,513:0.00,49.01:0.00,13.37:0.00,35.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,47.8:0,0:0,0:120,100:31,49:19,32:-,NM_207421.3(PADI6) c.116+35C>T:-,0.2:-,0.181963 1 17698961 rs1204872 T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7384,C/0.2616;Gene=PADI6/NM_207421.4/1;CC=c.116+105T>C;VC=Intron;DM=PADI6/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:12:0:0:0:5,7:171,200:15.96,0.00:0.00,0.00:15.96,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:76.2,15.4:0,0:0,0:129,79:22,72:9,38:NM_207421.3(PADI6) c.116+105T>C,-:0.26,-:NOT_FOUND,- 1 17699017 rs6656582 A G 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7959,G/0.2041;PC=0.003;Gene=PADI6/NM_207421.4/1;CC=c.116+161A>G;VC=Intron;DM=PADI6/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,G:7:0:0:0:4,3:127,108:0.00,10.16:0.00,0.00:0.00,10.16:0.00,0.69:0.00,0.00:0.00,0.69:60,60:7.0,36.0:0,0:0,0:107,36:43,115:14,2:-,NM_207421.3(PADI6) c.116+161A>G:-,0.2:-,NOT_FOUND 1 17699379 rs10690473 A AAC 29 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=41;Gene=PADI6/NM_207421.4/1;CC=c.117-168_117-167dupCA;VC=Intron;DM=PADI6/PAD_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,AAC:12:12:9:0:3,9:99,277:0.00,29.06:0.00,29.06:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.7,58.7:0,0:0,0:78,67:72,83:6,22:-,NM_207421.3(PADI6) c.117-172_117-171insAC:-,NOT_FOUND:-,NOT_FOUND 1 17699385 rs74549349 G A 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.8311,A/0.1689;NP=81;PC=0.005;Gene=PADI6/NM_207421.4/1;CC=c.117-166G>A;VC=Intron;DM=PADI6/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:14:14:0:0:11,3:341,104:36.17,0.00:36.17,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:57.5,5.7:0,0:0,0:62,84:89,66:23,6:NM_207421.3(PADI6) c.117-166G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 17699463 rs1204869 C T 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7374,T/0.2626;Gene=PADI6/NM_207421.4/1;CC=c.117-88C>T;VC=Intron;DM=PADI6/PAD_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:25:0:0:14,13:445,374:0.00,35.42:0.00,26.99:0.00,8.43:0.00,1.00:0.00,1.00:0.00,0.98:60,60:17.6,46.3:0,0:0,0:20,75:126,76:11,44:-,NM_207421.3(PADI6) c.117-88C>T:-,0.26:-,NOT_FOUND 1 17699509 rs2308230 G GGTGA 51 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.738,GAGTG/.,GGAGA/.,GGTCA/.,GGTGA/0.262;NP=802;Gene=PADI6/NM_207421.4/1;CC=c.117-39_117-38insAGTG;VC=Intron;DM=PADI6/PAD_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGTGA:51:45:19:0:32,19:1064,568:0.00,51.24:0.00,27.17:0.00,24.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,24.2:0,0:0,0:38,60:106,89:24,30:-,NM_207421.3(PADI6) c.117-42_117-41insGTGA:-,0.26:-,0.252429 1 17699729 . G . . NT END=17701921;NT GT ./. 1 17699997 rs55655075 TA T 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PADI6/NM_207421.4/1;CC=c.294+270delA;VC=Intron;DM=PADI6/PAD_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:4:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:29.8:0:0:89:61:28:NM_207421.3(PADI6) c.294+270delA,NM_207421.3(PADI6) c.294+270delA:0.5,0.5:NOT_FOUND,NOT_FOUND 1 17701995 . G . . NT END=17706414;NT GT ./. 1 17706483 . G . . NT END=17707541;NT GT ./. 1 17707601 rs6669650 T C 104 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.8379,C/0.1621;Gene=PADI6/NM_207421.4/1;CC=c.495T>C;ProtCh=p.P165=;VC=Silent;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:83:66:0:0:36,47:1117,1596:104.13,0.00:52.26,0.00:51.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,7.1:0,0:0,0:82,86:67,56:19,23:NM_207421.3(PADI6) c.495T>C (p.(=)),-:0.16,-:0.140697,- 1 17707660 . G . . NT END=17708461;NT GT ./. 1 17707739 rs1204898 T C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.2798,C/0.7202;PC=0.035;Gene=PADI6/NM_207421.4/1;CC=c.553+80T>C;VC=Intron;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:0:0:0:8,17:268,516:23.82,0.00:0.00,0.00:23.82,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:94.2,7.5:0,0:0,0:130,108:21,43:20,21:NM_207421.3(PADI6) c.553+80T>C,-:0.72,-:NOT_FOUND,- 1 17707757 rs6664321 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7692,T/0.2308;Gene=PADI6/NM_207421.4/1;CC=c.553+98C>T;VC=Intron;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,T:19:0:0:0:15,4:409,97:0.00,7.38:0.00,0.00:0.00,7.38:0.00,0.72:0.00,0.00:0.00,0.72:60,60:9.3,128.8:0,0:0,0:118,104:33,45:17,18:-,NM_207421.3(PADI6) c.553+98C>T:-,0.2:-,NOT_FOUND 1 17707758 rs6703392 G C 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.745,C/0.255;Gene=PADI6/NM_207421.4/1;CC=c.553+99G>C;VC=Intron;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:C,G:19:0:0:0:4,15:134,485:11.06,0.00:0.00,0.00:11.06,0.00:0.72,0.00:0.00,0.00:0.72,0.00:60,60:128.8,9.3:0,0:0,0:105,119:44,32:18,17:NM_207421.3(PADI6) c.553+99G>C,-:0.22,-:NOT_FOUND,- 1 17707798 rs10788668 C T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3381,T/0.6619;Gene=PADI6/NM_207421.4/1;CC=c.553+139C>T;VC=Intron;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T:11:0:0:0:7,4:180,132:0.00,11.98:0.00,0.00:0.00,11.98:0.00,0.82:0.00,0.00:0.00,0.82:60,60:20.0,108.0:0,0:0,0:117,120:33,30:27,25:-,NM_207421.3(PADI6) c.553+139C>T:-,0.67:-,NOT_FOUND 1 17708588 . G . . NT END=17714875;NT GT ./. 1 17708766 rs11203376 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7644,C/0.2356;Gene=PADI6/NM_207421.4/1;CC=c.679+179T>C;VC=Intron;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:6,9:207,278:19.18,0.00:0.00,0.00:19.18,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:42.2,0.0:0,0:0,0:84,106:66,45:28,28:NM_207421.3(PADI6) c.679+179T>C,-:0.24,-:NOT_FOUND,- 1 17714710 rs2762894 A C 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6987,C/0.3013;Gene=PADI6/NM_207421.4/1;CC=c.680-166A>C;VC=Intron;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C:9:9:0:0:6,3:200,96:0.00,8.54:0.00,8.54:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:6.8,43.3:0,0:0,0:28,16:122,134:17,13:-,NM_207421.3(PADI6) c.680-166A>C:-,0.31:-,NOT_FOUND 1 17714864 rs6696295 T C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.7672,C/0.2328;PC=0.001;Gene=PADI6/NM_207421.4/1;CC=c.680-12T>C;VC=Intron;DM=PADI6/PAD_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:36:0:0:12,29:379,997:32.86,0.00:25.21,0.00:7.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,8.4:0,0:0,0:50,71:88,80:21,29:NM_207421.3(PADI6) c.680-12T>C,-:0.24,-:0.213298,- 1 17715055 . G . . NT END=17715271;NT GT ./. 1 17715081 rs2526842 C T 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6789,T/0.3211;Gene=PADI6/NM_207421.4/1;CC=c.858+27C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:25:10:0:0:1,10,1,13:9,331,14,407:0.08,0.00,0.41,40.02:0.24,0.00,-0.02,19.64:-0.16,0.00,0.43,20.38:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:72.0,3.3,44.0,64.8:0,0,0,0:0,0,0,0:116,106,22,84:35,44,128,67:0,24,0,53:-,NM_207421.3(PADI6) c.858+27C>T:-,0.33:-,0.303982 1 17715135 rs2526841 T C 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.6789,C/0.3211;Gene=PADI6/NM_207421.4/1;CC=c.858+81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:14:0:0:15,10:491,304:48.96,0.00:35.06,0.00:13.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.5,16.1:0,0:0,0:56,44:94,107:33,23:NM_207421.3(PADI6) c.858+81T>C,-:0.33,-:NOT_FOUND,- 1 17715376 . G . . NT END=17718608;NT GT ./. 1 17715475 rs2800688 T C 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6781,C/0.3219;Gene=PADI6/NM_207421.4/1;CC=c.962+100T>C;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:0:0:0:12,12:389,387:37.40,0.00:0.00,0.00:37.40,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.4,3.0:0,0:0,0:67,101:83,49:29,19:NM_207421.3(PADI6) c.962+100T>C,-:0.33,-:NOT_FOUND,- 1 17718671 rs398089152 AG A 284 PASS VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1999;PC=1.000;Gene=PADI6/NM_207421.4/1;CC=c.1027delG;VC=SpliceSiteCDS;DM=PADI6/PAD;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:AG,A:82:55:0:79:3,79:98,2515:0.00,283.56:0.00,135.58:0.00,147.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.3,12.4:0,0:0,0:147,72:3,68:2,32:NM_207421.3(PADI6) c.1026G[1] (p.Val343Trpfs*33),NM_207421.3(PADI6) c.1026G[1] (p.Val343Trpfs*33):1,1:0.999577,0.999577 1 17718721 . G . . NT END=17720470;NT GT ./. 1 17718750 rs12737852 C T 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.7252,T/0.2748;Gene=PADI6/NM_207421.4/1;CC=c.1074+29C>T;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:15:0:0:28,19:802,625:0.00,57.85:0.00,10.79:0.00,47.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.6,36.8:0,0:0,0:105,109:46,42:25,23:-,NM_207421.3(PADI6) c.1074+29C>T:-,0.27:-,0.24567 1 17720439 rs6695849 T C 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.4291,C/0.5709;Gene=PADI6/NM_207421.4/1;CC=c.1075-32T>C;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:36:0:0:21,17:627,546:61.30,0.00:51.16,0.00:10.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,26.1:0,0:0,0:49,64:102,87:16,27:NM_207421.3(PADI6) c.1075-32T>C,-:0.58,-:0.610602,- 1 17720579 . G . . NT END=17720795;NT GT ./. 1 17720615 rs10458537 A C 62 nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.4279,C/0.5721;Gene=PADI6/NM_207421.4/1;CC=c.1182+37A>C;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:34:15:0:0:14,20:410,626:0.00,62.16:0.00,20.98:0.00,41.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.2,41.4:0,0:0,0:113,92:37,50:19,23:-,NM_207421.3(PADI6) c.1182+37A>C:-,0.58:-,0.614413 1 17720686 rs34075690 AG A 44 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=AG/0.4113,A/0.5887;NP=2275;Gene=PADI6/NM_207421.4/1;CC=c.1183-104delG;VC=Intron;DM=PADI6/PAD;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:28:12:0:15:13,15:380,455:0.00,44.27:0.00,17.08:0.00,27.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.4,19.5:0,0:0,0:112,62:38,89:32,48:-,NM_207421.3(PADI6) c.1182+109delG:-,0.6:-,NOT_FOUND 1 17720951 . G . . NT END=17721446;NT GT ./. 1 17721094 rs4920602 G A 52 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.4251,A/0.5749;Gene=PADI6/NM_207421.4/1;CC=c.1337+144G>A;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:2:0:0:18,18:541,568:51.84,0.00:3.28,0.00:48.56,0.00:1.00,0.00:0.79,0.00:1.00,0.00:60,60:53.5,6.4:0,0:0,0:96,78:53,72:49,30:NM_207421.3(PADI6) c.1337+144G>A,-:0.58,-:NOT_FOUND,- 1 17721388 rs6691485 C T 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.4287,T/0.5713;Gene=PADI6/NM_207421.4/1;CC=c.1338-59C>T;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:39:0:0:24,21:735,632:0.00,59.74:0.00,46.96:0.00,12.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,38.7:0,0:0,0:35,37:116,114:24,20:-,NM_207421.3(PADI6) c.1338-59C>T:-,0.58:-,NOT_FOUND 1 17721604 . G . . NT END=17722035;NT GT ./. 1 17721695 rs35197313 GT G 42 rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=544;PC=0.910;Gene=PADI6/NM_207421.4/1;CC=c.1494+107delT;VC=Intron;DM=PADI6/PAD;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:38:9:1:15:22,1,15:726,33,456:0.00,1.94,41.90:0.00,-0.05,6.64:0.00,1.99,35.26:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:19.9,0.0,43.1:0,0,0:0,0,0:122,60,103:28,89,47:20,0,13:-,NM_207421.3(PADI6) c.1494+93delT:-,NOT_FOUND:-,NOT_FOUND 1 17721707 rs369245260 T G 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6813,G/0.3187;DB;DBA=NA;PAF=NA;NP=1629;NP=2;PC=0.078;Gene=PADI6/NM_207421.4/1;CC=c.1494+104T>G;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:8:0:0:18,16:553,523:53.61,0.00:10.35,0.00:43.26,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:50.9,16.5:0,0:0,0:114,114:37,36:21,20:NM_207421.3(PADI6) c.1494+104T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 17721844 rs2800692 A C 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.3732,C/0.6268;PC=0.001;Gene=PADI6/NM_207421.4/1;CC=c.1495-192A>C;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:22:0:0:14,18:442,615:0.00,60.56:0.00,36.53:0.00,24.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,45.8:0,0:0,0:31,58:119,92:25,30:-,NM_207421.3(PADI6) c.1495-192A>C:-,0.63:-,NOT_FOUND 1 17722160 . G . . NT END=17723566;NT GT ./. 1 17722427 rs2526834 A C 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7165,C/0.2835;Gene=PADI6/NM_207421.4/1;CC=c.1618+268A>C;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C:12:0:0:0:3,9:80,279:0.00,29.24:0.00,0.00:0.00,29.24:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.3,75.8:0,0:0,0:77,104:73,47:3,35:-,NM_207421.3(PADI6) c.1618+268A>C:-,0.3:-,NOT_FOUND 1 17722431 rs2800693 C T 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7165,T/0.2835;Gene=PADI6/NM_207421.4/1;CC=c.1618+272C>T;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,T:11:0:0:0:3,8:69,257:0.00,26.87:0.00,0.00:0.00,26.87:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.3,74.2:0,0:0,0:81,101:69,49:3,36:-,NM_207421.3(PADI6) c.1618+272C>T:-,0.3:-,NOT_FOUND 1 17723638 . G . . NT END=17725181;NT GT ./. 1 17725011 rs1555663 T C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4247,C/0.5753;Gene=PADI6/NM_207421.4/1;CC=c.1690-171T>C;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:8:8:0:0:5,3:142,105:14.26,0.00:14.26,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:43.6,3.7:0,0:0,0:76,37:75,114:49,12:NM_207421.3(PADI6) c.1690-171T>C,-:0.58,-:NOT_FOUND,- 1 17725150 rs397957287 G C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=PADI6/NM_207421.4/1;CC=c.1690-32G>C;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,G,I,D:17:6:1:2:3,11,1,2:84,237,24,61:6.66,0.00,1.37,4.61:7.41,0.00,-0.05,-0.10:-0.75,0.00,1.42,4.71:0.53,0.00,0.00,0.00:0.66,0.00,0.00,0.00:0.86,0.00,0.00,0.00:60,60,60,60:28.0,11.5,32.0,0.0:0,1,0,0:0,0,0,0:101,48,35,10:12,99,114,112:3,17,0,1:NM_207421.3(PADI6) c.1690-32G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 17725158 rs3094884 C CCCACCCA 8 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=PADI6/NM_207421.4/1;CC=c.1690-22_1690-21insACCCACC;VC=Intron;DM=PADI6/PAD;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,G,CCCACCCA:24:11:4:0:19,1,4:610,7,102:0.00,-0.19,7.52:0.00,0.06,-0.02:0.00,-0.25,7.54:0.00,0.00,0.96:0.00,0.00,0.81:0.00,0.00,0.94:60,60,51:15.4,7.0,6.2:1,0,0:0,0,0:44,144,49:91,7,101:27,0,8:-,NM_207421.3(PADI6) c.1690-24_1690-23insCCACCCA:-,NOT_FOUND:-,NOT_FOUND 1 17725344 . G . . NT END=17727700;NT GT ./. 1 17725358 rs2244936 C G 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.3752,G/0.6248;PC=0.002;Gene=PADI6/NM_207421.4/1;CC=c.1851+15C>G;VC=Intron;DM=PADI6/PAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:54:31:0:0:30,23,1:977,741,28:0.00,69.33,1.32:0.00,25.42,-0.09:0.00,43.91,1.41:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:3.3,34.9,39.0:0,0,0:0,0,0:89,84,135:60,50,14:29,23,0:-,NM_207421.3(PADI6) c.1851+15C>G:-,0.63:-,0.66087 1 17727935 . A . . NT END=17735585;NT GT ./. 1 17728072 rs34167614 G A 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7758,A/0.2242;Gene=PADI6/NM_207421.4/1;CC=c.*138G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G:12:0:0:0:9,3:282,103:29.56,0.00:0.00,0.00:29.56,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.8,0.0:0,0:0,0:111,52:38,99:29,18:NM_207421.3(PADI6) c.*138G>A,-:0.23,-:NOT_FOUND,- 1 17728119 rs2526830 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3658,G/0.6342;Gene=PADI6/NM_207421.4/1;CC=c.*185A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:5:0:0:0:2,3:68,103:0.00,10.27:0.00,0.00:0.00,10.27:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,72.0:0,0:0,0:90,100:61,51:9,19:-,NM_207421.3(PADI6) c.*185A>G:-,0.63:-,NOT_FOUND 1 17735691 . C . . NT END=17736469;NT GT ./. 1 17736548 . C . . NT END=17738617;NT GT ./. 1 17736578 rs2762890 A G 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.3622,G/0.6378;Gene=RCC2/NM_001136204.2/0;CC=c.1387-31T>C;VC=Intron;Gene=RCC2/NM_018715.3/1;CC=c.1387-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:49:25:0:0:25,24:859,751:0.00,71.76:0.00,18.99:0.00,52.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,51.0:0,0:0,0:73,107:57,41:28,16:-,NM_018715.3(RCC2) c.1387-31T>C:-,0.63:-,0.659234 1 17738570 rs71014950 AC A 73 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=AC/0.7552,A/0.2448;DB;DBA=NA;PAF=AC/0.7552,A/0.2448;NP=1526;Gene=RCC2/NM_001136204.2/0;CC=c.1386+47delG;VC=Intron;Gene=RCC2/NM_018715.3/1;CC=c.1386+47delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:40:36:0:23:17,23:561,743:0.00,73.42:0.00,57.73:0.00,15.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,8.2:0,0:0,0:73,31:78,104:28,21:-,NM_018715.3(RCC2) c.1386+47delG:-,0.26:-,0.239617 1 17738691 . C . . NT END=17739568;NT GT ./. 1 17739675 . C . . NT END=17740032;NT GT ./. 1 17739820 rs1075535 T C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3618,C/0.6382;Gene=RCC2/NM_001136204.2/0;CC=c.1208-146A>G;VC=Intron;Gene=RCC2/NM_018715.3/1;CC=c.1208-146A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:8:4:0:0:3,5:93,147:8.44,0.00:2.44,0.00:6.00,0.00:0.67,0.00:0.85,0.00:0.85,0.00:60,60:51.3,19.6:0,0:0,0:91,53:58,98:35,18:NM_018715.3(RCC2) c.1208-146A>G,-:0.63,-:NOT_FOUND,- 1 17740214 . C . . NT END=17742975;NT GT ./. 1 17740357 rs2003871 G A 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.7131,A/0.2869;PC=0.001;Gene=RCC2/NM_001136204.2/0;CC=c.1027-144C>T;VC=Intron;Gene=RCC2/NM_018715.3/1;CC=c.1027-144C>T;VC=Intron;DM=RCC2/RCC1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:20:0:0:0:14,6:483,147:49.72,0.00:0.00,0.00:49.72,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:44.0,32.5:0,0:0,0:89,80:62,70:34,21:NM_018715.3(RCC2) c.1027-144C>T,-:0.3,-:NOT_FOUND,- 1 17743143 . C . . NT END=17747209;NT GT ./. 1 17747325 . C . . NT END=17748698;NT GT ./. 1 17748788 . C . . NT END=17749200;NT GT ./. 1 17749333 . C . . NT END=17752036;NT GT ./. 1 17749459 rs5772759 C CCAA 67 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.003794,CAA/.,CCAA/.,CCAACA/0.9962;DB;DBA=NA;PAF=NA;NP=1885;Gene=RCC2/NM_001136204.2/0;CC=c.524-130_524-128dupTTG;VC=Intron;Gene=RCC2/NM_018715.3/1;CC=c.524-130_524-128dupTTG;VC=Intron;DM=RCC2/RCC1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,CCAA:26:5:20:0:6,20:170,634:0.00,66.89:0.00,6.54:0.00,60.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.5,4.3:0,0:0,0:142,112:6,38:1,21:-,NM_018715.3(RCC2) c.524-128_524-127insTTG:-,NOT_FOUND:-,NOT_FOUND 1 17752181 . C . . NT END=17755601;NT GT ./. 1 17755696 . C . . NT END=17764725;NT GT ./. 1 17765011 . G . . NT END=17907090;NT GT ./. 1 17765032 . C T 193 nt VT=SNV;PN=A;NN=G;SST=Single;DP=140;NP=1;PC=0.983;Gene=RCC2/NM_001136204.2/0;CC=c.-22G>A;VC=5UTR;Gene=RCC2/NM_018715.3/1;CC=c.-8-14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:140:59:0:0:75,65:2284,2036:0.00,192.62:0.00,41.91:0.00,150.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,46.3:0,0:0,0:85,90:55,56:27,33:-,NM_018715.3(RCC2) c.-8-14G>A:-,NOT_FOUND:-,NOT_FOUND 1 17907128 . G . . NT END=17913954;NT GT ./. 1 17914122 rs35497285 G A 168 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.9073,A/0.09265;PC=0.334;Gene=ARHGEF10L/NM_018125.3/1;CC=c.205G>A;ProtCh=p.D69N;VC=Missense;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.205G>A;ProtCh=p.D69N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:64:0:0:60,60:1761,1933:168.47,0.00:61.89,0.00:106.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,10.7:0,0:0,0:82,84:66,61:25,28:NM_018125.3(ARHGEF10L) c.205G>A (p.Asp69Asn),-:0.1,-:0.061971,- 1 17914141 . G . . NT END=17914940;NT GT ./. 1 17914846 rs1193343 C T 29 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2678,T/0.7322;Gene=ARHGEF10L/NM_018125.3/1;CC=c.224-95C>T;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.224-95C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:17,12:562,319:0.00,29.07:0.00,27.16:0.00,1.91:0.00,1.00:0.00,1.00:0.00,0.96:60,60:5.7,52.1:0,0:0,0:36,31:115,119:17,23:-,NM_018125.3(ARHGEF10L) c.224-95C>T:-,0.77:-,NOT_FOUND 1 17914975 . G . . NT END=17928621;NT GT ./. 1 17928714 . G . . NT END=17930002;NT GT ./. 1 17929980 rs1193338 C G 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.5387,G/0.4613;Gene=ARHGEF10L/NM_018125.3/1;CC=c.350-23C>G;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.350-23C>G;VC=Intron;DM=ARHGEF10L/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:53:48:0:0:27,26:905,884:0.00,84.84:0.00,61.94:0.00,22.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,36.6:0,0:0,0:69,54:79,96:19,19:-,NM_018125.3(ARHGEF10L) c.350-23C>G:-,0.51:-,0.460249 1 17930087 . G . . NT END=17934293;NT GT ./. 1 17934473 . G . . NT END=17939552;NT GT ./. 1 17939670 . G . . NT END=17942588;NT GT ./. 1 17942698 . G . . NT END=17944807;NT GT ./. 1 17945018 . G . . NT END=17945824;NT GT ./. 1 17945941 . G . . NT END=17948358;NT GT ./. 1 17948437 . G . . NT END=17949490;NT GT ./. 1 17949562 rs55693639 C T 189 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.9868,T/0.01318;PC=0.996;Gene=ARHGEF10L/NM_018125.3/1;CC=c.1092C>T;ProtCh=p.F364=;VC=Silent;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.975C>T;ProtCh=p.F325=;VC=Silent;DM=ARHGEF10L/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:105:73:0:0:46,59:1459,1923:0.00,189.19:0.00,84.66:0.00,104.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.2,41.5:0,0:0,0:80,65:70,82:41,35:-,NM_018125.3(ARHGEF10L) c.1092C>T (p.(=)):-,0.02:-,0.039751 1 17949671 . G . . NT END=17950881;NT GT ./. 1 17950999 . G . . NT END=17952450;NT GT ./. 1 17952544 . G . . NT END=17953824;NT GT ./. 1 17953999 . G . . NT END=17958815;NT GT ./. 1 17958962 . G . . NT END=17961042;NT GT ./. 1 17960812 rs2354289 T C 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.002596,C/0.9974;NP=3284;Gene=ARHGEF10L/NM_018125.3/1;CC=c.1731-231T>C;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.1614-231T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:6:0:0:7:236:26.94:23.26:3.68:1.00:1.00:1.00:60:41.7:0:0:28:123:19:NM_018125.3(ARHGEF10L) c.1731-231T>C,NM_018125.3(ARHGEF10L) c.1731-231T>C:1,1:NOT_FOUND,NOT_FOUND 1 17961058 . G . . NT END=17961329;NT GT ./. 1 17961345 rs34725104 C T 84 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.9187,T/0.08127;PC=1.000;Gene=ARHGEF10L/NM_018125.3/1;CC=c.1761C>T;ProtCh=p.I587=;VC=Silent;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.1644C>T;ProtCh=p.I548=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:86:72:0:0:55,31:1791,939:0.00,84.24:0.00,52.08:0.00,32.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,36.3:0,0:0,0:52,72:89,79:38,32:-,NM_018125.3(ARHGEF10L) c.1761C>T (p.(=)):-,0.11:-,0.139935 1 17961512 . G . . NT END=17964382;NT GT ./. 1 17964499 . G . . NT END=17965056;NT GT ./. 1 17965185 . G . . NT END=17966326;NT GT ./. 1 17966477 . G . . NT END=17966696;NT GT ./. 1 17966798 . G . . NT END=17975048;NT GT ./. 1 17975171 . G . . NT END=17981130;NT GT ./. 1 17981218 . G . . NT END=17982373;NT GT ./. 1 17982598 . G . . NT END=17983048;NT GT ./. 1 17983204 . G . . NT END=17990941;NT GT ./. 1 17991052 rs6695710 T C 414 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=3435;Gene=ARHGEF10L/NM_018125.3/1;CC=c.2971T>C;ProtCh=p.W991R;VC=Missense;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.2854T>C;ProtCh=p.W952R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:117:80:0:0:117:3585:413.63:186.72:226.90:1.00:1.00:1.00:60:42.5:0:0:76:69:38:NM_018125.3(ARHGEF10L) c.=,NM_018125.3(ARHGEF10L) c.=:1,1:0.999769,0.999769 1 17991091 . G . . NT END=18014067;NT GT ./. 1 18014243 . G . . NT END=18021652;NT GT ./. 1 18021406 rs905389 T C 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1783,C/0.8217;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3185-247T>C;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3068-247T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,C:11:11:0:0:1,10:10,329:0.53,37.21:0.53,37.21:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:154.0,75.4:0,0:0,0:46,51:85,99:0,21:NM_018125.3(ARHGEF10L) c.3185-247T>C,NM_018125.3(ARHGEF10L) c.3185-247T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 18021444 rs41267491 G T 55 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.974,T/0.02596;PC=0.004;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3185-209G>T;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3068-209G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:G,T:17:17:0:0:1,16:10,487:0.00,54.82:0.00,54.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:154.0,61.5:0,0:0,0:84,53:47,97:0,29:NM_018125.3(ARHGEF10L) c.3185-209G>T,NM_018125.3(ARHGEF10L) c.3185-209G>T:0.03,0.03:NOT_FOUND,NOT_FOUND 1 18021776 . G . . NT END=18023342;NT GT ./. 1 18021867 rs2279816 T C 196 nt VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.1757,C/0.8243;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3307+92T>C;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3190+92T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:17:0:0:55:1700:196.20:42.00:154.20:1.00:1.00:1.00:60:36.7:0:0:121:30:20:NM_018125.3(ARHGEF10L) c.3307+92T>C,NM_018125.3(ARHGEF10L) c.3307+92T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 18022066 rs2279815 G T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1653,T/0.8347;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3307+291G>T;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3190+291G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G,T:5:0:0:0:1,4:8,133:0.00,14.22:0.00,0.00:0.00,14.22:0.00,0.96:0.00,0.00:0.00,0.96:60,60:139.0,33.2:0,0:0,0:35,125:88,26:0,17:NM_018125.3(ARHGEF10L) c.3307+291G>T,NM_018125.3(ARHGEF10L) c.3307+291G>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 18023112 rs4920619 A G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1773,G/0.8227;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3308-231A>G;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3191-231A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,T:9:9:0:0:8,1:233,11:26.70,0.68:26.70,0.68:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:64.5,44.0:0,0:0,0:55,62:95,89:23,0:NM_018125.3(ARHGEF10L) c.3308-231A>G,NM_018125.3(ARHGEF10L) c.3308-231A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 18023154 rs4920620 A G 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1733,G/0.8267;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3308-189A>G;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3191-189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:491:56.73:56.73:0.00:1.00:1.00:0.00:60:65.4:0:0:49:98:36:NM_018125.3(ARHGEF10L) c.3308-189A>G,NM_018125.3(ARHGEF10L) c.3308-189A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 18023290 rs2270979 C T 195 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.2143,T/0.7857;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3308-53C>T;VC=Intron;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3191-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:T:53:47:0:0:53:1698:194.97:160.43:34.54:1.00:1.00:1.00:60:74.0:0:0:39:106:25:NM_018125.3(ARHGEF10L) c.3308-53C>T,NM_018125.3(ARHGEF10L) c.3308-53C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 18023365 rs2270978 C T 437 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.2153,G/.,T/0.7847;PC=0.001;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3330C>T;ProtCh=p.N1110=;VC=Silent;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3213C>T;ProtCh=p.N1071=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:123:107:0:0:1,122:16,3814:0.00,437.15:0.00,331.67:0.00,105.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,55.9:0,0:0,0:12,39:139,108:0,26:NM_018125.3(ARHGEF10L) c.3330C>T (p.(=)),NM_018125.3(ARHGEF10L) c.3330C>T (p.(=)):0.77,0.77:0.764801,0.764801 1 18023509 rs2270977 T C 747 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=201;DB;DBA=NA;PAF=T/0.1653,C/0.8347,G/.;PC=0.002;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3474T>C;ProtCh=p.D1158=;VC=Silent;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3357T>C;ProtCh=p.D1119=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:201:131:0:0:1,200:10,6522:0.05,746.75:0.05,363.69:0.00,383.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:93.0,42.7:0,0:0,0:22,66:129,78:0,37:NM_018125.3(ARHGEF10L) c.3474T>C (p.(=)),NM_018125.3(ARHGEF10L) c.3474T>C (p.(=)):0.82,0.82:0.806203,0.806203 1 18023690 rs2270976 A G 659 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=184;DB;DBA=NA;PAF=A/0.1773,G/0.8227;PC=0.237;Gene=ARHGEF10L/NM_018125.3/1;CC=c.3655A>G;ProtCh=p.I1219V;VC=Missense;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.3538A>G;ProtCh=p.I1180V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:184:128:0:0:184:5724:659.36:337.41:321.95:1.00:1.00:1.00:60:41.2:0:0:72:74:33:NM_018125.3(ARHGEF10L) c.3655A>G (p.Ile1219Val),NM_018125.3(ARHGEF10L) c.3655A>G (p.Ile1219Val):0.81,0.81:0.795131,0.795131 1 18023876 . C . . NT END=18149503;NT GT ./. 1 18023997 rs397733475 G GC 110 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2139,GC/0.7861;DB;DBA=NA;PAF=G/0.2139,GC/0.7861;NP=1025;PC=0.001;Gene=ARHGEF10L/NM_018125.3/1;CC=c.*123dupC;VC=3UTR;Gene=ARHGEF10L/NM_001011722.2/0;CC=c.*123dupC;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G,GC:34:0:33:0:1,33:33,962:0.00,109.95:0.00,0.00:0.00,109.95:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,26.1:0,0:0,0:144,108:2,43:0,31:NM_018125.3(ARHGEF10L) c.*123dupC,NM_018125.3(ARHGEF10L) c.*123dupC:0.77,0.77:NOT_FOUND,NOT_FOUND 1 18149510 rs694214 G T 288 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.6943,T/0.3057;Gene=ACTL8/NM_030812.2/1;CC=c.7G>T;ProtCh=p.A3S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:79:70:0:0:79:2500:287.54:217.05:70.49:1.00:1.00:1.00:60:60.9:0:0:37:101:22:NM_030812.2(ACTL8) c.7G>T (p.Ala3Ser),NM_030812.2(ACTL8) c.7G>T (p.Ala3Ser):0.35,0.35:0.347609,0.347609 1 18149566 rs2296035 C A 402 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.5172,A/0.4828,G/.;PC=0.028;Gene=ACTL8/NM_030812.2/1;CC=c.63C>A;ProtCh=p.G21=;VC=Silent;DM=ACTL8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:109:90:0:0:109:3502:402.03:250.16:151.87:1.00:1.00:1.00:60:54.5:0:0:63:87:30:NM_030812.2(ACTL8) c.63C>A (p.(=)),NM_030812.2(ACTL8) c.63C>A (p.(=)):0.52,0.52:0.421959,0.421959 1 18149852 . G . . NT END=18152261;NT GT ./. 1 18153015 . C . . NT END=18434622;NT GT ./. 1 18172269 rs78809354 A ATG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4679,ATG/0.5321;DB;DBA=NA;PAF=A/0.4679,ATA/.,ATG/0.5321,ATGTG/.;DB;DBA=NA;PAF=NA;NP=9;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,ATG:4:3:2:0:2,2:68,67:0.00,6.45:0.00,1.29:0.00,5.16:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,0.0:0,0:0,0:109,72:42,72:32,41:-,chr1 g.18172269_18172270insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 18222341 rs367997594 T TTGTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=48;NP=6;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:T,TTGTG,D:4:2:2:1:1,2,1:34,66,34:0.00,6.65,3.15:0.00,3.48,0.00:0.00,3.17,3.15:0.00,0.51,0.00:0.00,0.79,0.00:0.00,0.51,0.00:60,60,60:0.0,0.0,0.0:0,0,0:0,0,0:49,51,84:102,59,67:0,1,0:-,chr1 g.18222341_18222342insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 18405426 rs4920424 T A 16 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04273,A/0.9573 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:13.77:1.94:1.00:1.00:1.00:60:59.8:0:0:55:92:12:chr1 g.18405425T>A (intergenic),chr1 g.18405425T>A (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 18433477 rs68125087 GGTGT G 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=70;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:5:4:156:13.82:2.78:11.04:0.96:0.99:1.00:60:8.0:1:0:93:58:9:NM_032880.4(IGSF21) c.-383-u762_-383-u759delGTGT,NM_032880.4(IGSF21) c.-383-u762_-383-u759delGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 18434518 rs9660391 G C 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.3738,C/0.6262;PC=0.949;Gene=IGSF21/NM_032880.4/1;CC=c.-105G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:27:27:0:0:15,11,1:486,305,11:48.06,0.00,0.17:48.23,0.00,0.18:-0.18,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:0.70,0.00,0.00:60,60,60:37.1,14.8,232.0:0,0,0:0,0,0:47,56,96:104,95,55:22,16,0:NM_032880.4(IGSF21) c.-105G>C,-:0.59,-:NOT_FOUND,- 1 18434693 . G . . NT END=18554391;NT GT ./. 1 18554345 rs61762155 T C 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8161,C/0.1839;Gene=IGSF21/NM_032880.4/1;CC=c.71-47T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:9,15:282,481:25.60,0.00:21.03,0.00:4.57,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:73.4,7.9:0,0:0,0:45,40:106,109:26,10:NM_032880.4(IGSF21) c.71-47T>C,-:0.21,-:0.209134,- 1 18554356 rs3738087 C T 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8163,T/0.1837;Gene=IGSF21/NM_032880.4/1;CC=c.71-36C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:17,8:582,255:0.00,22.51:0.00,18.22:0.00,4.29:0.00,0.99:0.00,0.99:0.00,0.96:60,60:7.0,79.1:0,0:0,0:50,39:98,109:16,8:-,NM_032880.4(IGSF21) c.71-36C>T:-,0.21:-,0.213978 1 18554505 . G . . NT END=18618359;NT GT ./. 1 18558416 rs150869622 C CGTGT 8 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=24;NP=32;Gene=IGSF21/NM_032880.4/1;CC=c.183+3951_183+3952insTGTG;VC=Intron;DM=IGSF21/V-set;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,CGTGT:10:10:5:0:7,3:218,151:0.00,7.76:0.00,5.39:0.00,2.37:0.00,0.59:0.00,0.91:0.00,0.75:60,60:5.6,50.3:0,2:0,0:94,28:40,111:29,17:-,NM_032880.4(IGSF21) c.183+3912_183+3913insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 18558575 rs17436219 A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.762,G/0.238;PC=0.075;Gene=IGSF21/NM_032880.4/1;CC=c.183+4071A>G;VC=Intron;DM=IGSF21/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,G:7:0:0:0:3,4:107,130:0.00,12.83:0.00,0.00:0.00,12.83:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,32.5:0,0:0,0:67,128:84,17:16,7:-,NM_032880.4(IGSF21) c.183+4071A>G:-,0.28:-,NOT_FOUND 1 18618092 rs12126228 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8261,T/0.1739;Gene=IGSF21/NM_032880.4/1;CC=c.184-268C>T;VC=Intron;DM=IGSF21/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T:7:7:0:0:3,4:80,98:0.00,9.62:0.00,9.62:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:8.3,32.2:0,0:0,0:27,77:124,73:5,29:-,NM_032880.4(IGSF21) c.184-268C>T:-,0.2:-,NOT_FOUND 1 18618482 . G . . NT END=18661385;NT GT ./. 1 18661505 . G . . NT END=18688608;NT GT ./. 1 18661583 rs536540 T C 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.619,C/0.381;Gene=IGSF21/NM_032880.4/1;CC=c.424+79T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:2:0:0:13,12:384,403:37.08,0.00:3.29,0.00:33.79,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:39.3,3.7:0,0:0,0:83,89:67,62:40,32:NM_032880.4(IGSF21) c.424+79T>C,-:0.33,-:NOT_FOUND,- 1 18688725 . G . . NT END=18691716;NT GT ./. 1 18692192 . G . . NT END=18702803;NT GT ./. 1 18702890 . G . . NT END=18703293;NT GT ./. 1 18702988 rs10796450 T C 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.009185,C/0.9908;NP=3236;Gene=IGSF21/NM_032880.4/1;CC=c.1101+99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:1:0:0:15:423:49.31:3.98:45.33:1.00:1.00:1.00:60:32.3:0:0:70:81:36:NM_032880.4(IGSF21) c.1101+99T>C,NM_032880.4(IGSF21) c.1101+99T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 18703208 rs10796451 C G 57 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.2604,G/0.7396;PC=0.001;Gene=IGSF21/NM_032880.4/1;CC=c.1102-86C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:39:0:0:23,18:748,607:0.00,57.08:0.00,45.04:0.00,12.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,44.6:0,0:0,0:52,35:99,115:30,18:-,NM_032880.4(IGSF21) c.1102-86C>G:-,0.76:-,NOT_FOUND 1 18703487 . G . . NT END=18703886;NT GT ./. 1 18703523 rs2271859 A G 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.8195,G/0.1805;Gene=IGSF21/NM_032880.4/1;CC=c.1294+37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:23:0:0:22,25:627,820:0.00,79.85:0.00,23.69:0.00,56.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,65.7:0,0:0,0:107,77:42,67:17,15:-,NM_032880.4(IGSF21) c.1294+37A>G:-,0.18:-,0.229817 1 18703538 rs2271860 G C 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.8215,C/0.1785;PC=0.008;Gene=IGSF21/NM_032880.4/1;CC=c.1294+52G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:42:20:0:0:23,19:756,603:74.02,0.00:23.02,0.00:51.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.6,10.9:0,0:0,0:96,114:52,36:15,18:NM_032880.4(IGSF21) c.1294+52G>C,-:0.18,-:0.22132,- 1 18703926 . G . . NT END=18704749;NT GT ./. 1 18704821 . A . . NT END=18807475;NT GT ./. 1 18704862 rs1043459 A G 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.3958,G/0.6042;Gene=IGSF21/NM_032880.4/1;CC=c.*42A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:11:0:0:18,16:505,507:0.00,48.06:0.00,6.29:0.00,41.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.4,35.9:0,0:0,0:103,108:44,35:35,23:-,NM_032880.4(IGSF21) c.*42A>G:-,0.56:-,0.518145 1 18807339 rs2992756 T C 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4479,C/0.5521;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,T:11:11:0:0:10,1:307,14:34.06,0.00:34.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.5,37.0:0,0:0,0:41,49:110,102:25,0:NM_152375.2(KLHDC7A) c.-52-u85T>C,NM_152375.2(KLHDC7A) c.-52-u85T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 18807897 rs2992755 C G 446 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.353,A/.,G/0.647,T/.;Gene=KLHDC7A/NM_152375.2/1;CC=c.422C>G;ProtCh=p.P141R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:124:74:0:0:124:3875:446.04:190.36:255.68:1.00:1.00:1.00:60:58.4:0:0:75:71:34:NM_152375.2(KLHDC7A) c.422C>G (p.Pro141Arg),NM_152375.2(KLHDC7A) c.422C>G (p.Pro141Arg):0.7,0.7:0.621324,0.621324 1 18807953 rs11261022 C A 417 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.7204,A/0.2796;Gene=KLHDC7A/NM_152375.2/1;CC=c.478C>A;ProtCh=p.R160S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:113:74:0:0:112,1:3662,13:417.50,0.00:213.48,0.00:204.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.8,98.0:0,0:0,0:79,40:69,111:33,0:NM_152375.2(KLHDC7A) c.478C>A (p.Arg160Ser),NM_152375.2(KLHDC7A) c.478C>A (p.Arg160Ser):0.31,0.31:0.317778,0.317778 1 18808292 rs2992753 C A 430 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.3271,A/0.6729;PC=0.998;Gene=KLHDC7A/NM_152375.2/1;CC=c.817C>A;ProtCh=p.H273N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:121:73:0:0:120,1:3750,10:430.17,0.00:209.44,0.00:220.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,0.0:0,0:0,0:80,123:66,28:43,0:NM_152375.2(KLHDC7A) c.817C>A (p.His273Asn),NM_152375.2(KLHDC7A) c.817C>A (p.His273Asn):0.72,0.72:0.641012,0.641012 1 18808465 rs3007718 T A 393 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.3273,A/0.6727;Gene=KLHDC7A/NM_152375.2/1;CC=c.990T>A;ProtCh=p.A330=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:107:64:0:0:107:3426:393.37:188.37:205.00:1.00:1.00:1.00:60:60.2:0:0:72:78:41:NM_152375.2(KLHDC7A) c.990T>A (p.(=)),NM_152375.2(KLHDC7A) c.990T>A (p.(=)):0.72,0.72:0.640333,0.640333 1 18808526 rs2992752 A C 438 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.3273,C/0.6727,G/.,T/.;Gene=KLHDC7A/NM_152375.2/1;CC=c.1051A>C;ProtCh=p.T351P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:119:76:0:0:1,117,1:9,3842,10:0.00,437.74,0.08:0.00,227.29,0.08:0.00,210.45,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:174.0,58.9,26.0:0,0,0:0,0,0:86,73,11:65,75,140:0,38,0:NM_152375.2(KLHDC7A) c.1051A>C (p.Thr351Pro),NM_152375.2(KLHDC7A) c.1051A>C (p.Thr351Pro):0.72,0.72:0.641001,0.641001 1 18809896 rs2992745 A T 250 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.3572,T/0.6428;Gene=KLHDC7A/NM_152375.2/1;CC=c.*87A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:69:44:0:0:69:2173:250.11:120.48:129.63:1.00:1.00:1.00:60:64.9:0:0:94:57:34:NM_152375.2(KLHDC7A) c.*87A>T,NM_152375.2(KLHDC7A) c.*87A>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 18809916 rs12061708 G A 241 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.7983,A/0.2017;PC=0.001;Gene=KLHDC7A/NM_152375.2/1;CC=c.*107G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:69:42:0:0:69:2078:240.51:111.59:128.92:1.00:1.00:1.00:60:66.8:0:0:91:54:31:NM_152375.2(KLHDC7A) c.*107G>A,NM_152375.2(KLHDC7A) c.*107G>A:0.23,0.23:NOT_FOUND,NOT_FOUND 1 18810344 rs2992740 G T 465 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.3788,T/0.6212;Gene=KLHDC7A/NM_152375.2/1;CC=c.*535G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:132:76:0:0:132:4024:464.91:206.31:258.60:1.00:1.00:1.00:60:37.4:0:0:72:74:37:NM_152375.2(KLHDC7A) c.*535G>T,NM_152375.2(KLHDC7A) c.*535G>T:0.68,0.68:NOT_FOUND,NOT_FOUND 1 18810535 . G . . NT END=18958097;NT GT ./. 1 18958183 . G . . NT END=18960796;NT GT ./. 1 18958346 rs35014403 AC A 18 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=AC/0.9075,A/0.09245;NP=12;PC=0.001;Gene=PAX7/NM_002584.2/0;CC=c.85+167delC;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.85+167delC;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.85+167delC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:18:0:0:7:11,7:302,202:0.00,18.32:0.00,0.00:0.00,18.32:0.00,0.98:0.00,0.00:0.00,0.98:60,60:12.0,18.0:0,0:0,0:97,55:54,96:18,24:-,NM_001135254.1(PAX7) c.85+165delC:-,0.1:-,NOT_FOUND 1 18960722 rs4920523 G C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.7829,C/0.2171;Gene=PAX7/NM_002584.2/0;CC=c.86-75G>C;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.86-75G>C;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.86-75G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:37:0:0:15,22:492,728:45.51,0.00:38.50,0.00:7.01,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:45.1,17.6:0,0:0,0:54,42:97,108:24,26:NM_001135254.1(PAX7) c.86-75G>C,-:0.24,-:NOT_FOUND,- 1 18961033 . G . . NT END=18961604;NT GT ./. 1 18961735 . G . . NT END=18962730;NT GT ./. 1 18962866 . G . . NT END=19018247;NT GT ./. 1 18982264 rs560470014 G GGT 9 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=12;NP=2;NP=8;PC=0.574;Gene=PAX7/NM_002584.2/0;CC=c.586+19439_586+19440insGT;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.580+19439_580+19440insGT;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.586+19439_586+19440insGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,GGT:6:8:5:0:3,3:89,160:0.00,8.84:0.00,2.54:0.00,6.30:0.00,0.67:0.00,0.67:0.00,0.93:60,60:64.0,41.3:0,2:0,0:114,37:37,114:32,9:-,NM_001135254.1(PAX7) c.586+19399_586+19400insGT:-,NOT_FOUND:-,NOT_FOUND 1 19018131 rs2076021 A C 98 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.1096,C/0.8904;Gene=PAX7/NM_002584.2/0;CC=c.587-117A>C;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.581-117A>C;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.587-117A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:26:0:0:26:861:98.49:98.49:0.00:1.00:1.00:0.00:60:37.8:0:0:37:113:21:NM_001135254.1(PAX7) c.587-117A>C,NM_001135254.1(PAX7) c.587-117A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 19018448 . G . . NT END=19027146;NT GT ./. 1 19027239 rs2743201 A G 121 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.5114,G/0.4886;Gene=PAX7/NM_002584.2/0;CC=c.879A>G;ProtCh=p.P293=;VC=Silent;Gene=PAX7/NM_013945.2/0;CC=c.873A>G;ProtCh=p.P291=;VC=Silent;Gene=PAX7/NM_001135254.1/1;CC=c.879A>G;ProtCh=p.P293=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:98:73:0:0:57,1,40:1822,11,1307:0.00,-0.12,121.23:0.00,-0.14,52.28:0.00,0.02,68.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.9,111.0,35.1:0,0,0:0,0,0:83,12,64:66,134,82:34,0,23:-,NM_001135254.1(PAX7) c.879A>G (p.(=)):-,0.44:-,0.372059 1 19027313 . G . . NT END=19029587;NT GT ./. 1 19029546 rs1416464 A G 66 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.5102,G/0.4898;Gene=PAX7/NM_002584.2/0;CC=c.953-42A>G;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.947-42A>G;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.953-42A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:48:43:0:0:26,21,1:809,697,9:0.00,65.70,-0.09:0.00,54.53,-0.03:0.00,11.17,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.6,35.2,103.0:0,0,0:0,0,0:28,23,106:113,122,45:22,13,0:-,NM_001135254.1(PAX7) c.953-42A>G:-,0.44:-,0.352831 1 19029791 . G . . NT END=19062125;NT GT ./. 1 19030005 rs76601718 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9904,G/0.009585;Gene=PAX7/NM_002584.2/0;CC=c.1155+215A>G;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.1149+215A>G;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.1155+215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:4:0:0:0:2,2:65,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,34.5:0,0:0,0:128,72:22,78:17,35:-,NM_001135254.1(PAX7) c.1155+215A>G:-,0.01:-,NOT_FOUND 1 19053779 rs58074996 G GC 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=14;Gene=PAX7/NM_002584.2/0;CC=c.1156-8347_1156-8346insC;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.1150-8347_1150-8346insC;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.1156-8347_1156-8346insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:G,GC:4:4:2:0:2,2:56,67:0.00,6.45:0.00,6.60:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,60:0.0,57.0:0,0:0,0:118,19:32,129:24,6:-,NM_001135254.1(PAX7) c.1156-8347_1156-8346insC:-,NOT_FOUND:-,NOT_FOUND 1 19053780 rs56304333 T A 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=33;Gene=PAX7/NM_002584.2/0;CC=c.1156-8346T>A;VC=Intron;Gene=PAX7/NM_013945.2/0;CC=c.1150-8346T>A;VC=Intron;Gene=PAX7/NM_001135254.1/1;CC=c.1156-8346T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,T:4:4:0:0:2,2:68,59:6.55,0.00:6.70,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:57.0,0.0:2,0:0,0:21,119:127,31:6,24:NM_001135254.1(PAX7) c.1156-8346T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 19062499 . a . . NT END=19071307;NT GT ./. 1 19071182 rs3915506 A G 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=3;Gene=PAX7/NM_001135254.1/1;CC=c.1403-126A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:11:11:0:1:4,7:104,224:0.00,22.64:0.00,20.80:0.00,1.84:0.00,1.00:0.00,1.00:0.00,0.76:60,60:0.0,85.6:1,0:0,0:100,33:46,111:22,6:-,NM_001135254.1(PAX7) c.1403-126A>G:-,NOT_FOUND:-,NOT_FOUND 1 19071183 rs71027398 A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4415,G/0.5585;DB;DBA=NA;PAF=NA;NP=4;NP=55;Gene=PAX7/NM_001135254.1/1;CC=c.1403-125A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G,I:10:10:1:1:3,6,1:90,187,33:0.00,19.03,2.64:0.00,17.16,2.64:0.00,1.88,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.73,0.00:60,60,60:0.0,93.2,0.0:0,0,0:0,0,0:113,33,36:37,114,108:21,3,0:-,NM_001135254.1(PAX7) c.1403-125A>G:-,NOT_FOUND:-,NOT_FOUND 1 19071191 rs143591582 G GATGGATCA 7 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6681,A/0.3319;NP=2;PC=0.001;Gene=PAX7/NM_001135254.1/1;CC=c.1403-111_1403-110insCAATGGAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:G,GATGGATCA:11:12:4:0:8,3:233,91:0.00,6.83:0.00,5.34:0.00,1.49:0.00,0.59:0.00,0.59:0.00,0.50:60,60:44.6,117.0:1,1:0,0:88,41:58,106:36,1:-,NM_001135254.1(PAX7) c.1403-117_1403-116insATGGATCA:-,NOT_FOUND:-,NOT_FOUND 1 19071424 . G . . NT END=19166092;NT GT ./. 1 19166294 rs12033832 G A 582 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=G/0.7005,A/0.2995;PC=0.012;Gene=TAS1R2/NM_152232.2/1;CC=c.2319C>T;ProtCh=p.S773=;VC=Silent;DM=TAS1R2/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:153:99:0:0:152,1:5103,8:582.25,0.04:298.17,0.00:284.08,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,69.0:0,0:0,0:69,0:78,151:37,0:NM_152232.2(TAS1R2) c.2319C>T (p.(=)),NM_152232.2(TAS1R2) c.2319C>T (p.(=)):0.32,0.32:0.30386,0.30386 1 19167022 . C . . NT END=19168222;NT GT ./. 1 19168347 . C . . NT END=19175834;NT GT ./. 1 19168476 . T TA 8 idl,nt VT=INS;SST=Single;DP=45;Gene=TAS1R2/NM_152232.2/1;CC=c.1468-131dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:A,G,T,TA:41:9:9:0:1,2,33,5:20,24,744,211:0.56,0.30,0.00,7.88:-0.04,-0.09,0.00,-0.23:0.61,0.39,0.00,8.11:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.60:0.00,0.00,0.00,0.98:60,60,60,60:242.0,135.5,35.7,210.4:0,2,15,5:0,0,0,0:127,105,127,65:18,25,22,72:0,10,16,24:-,NM_152232.2(TAS1R2) c.1468-131_1468-130insT:-,NOT_FOUND:-,NOT_FOUND 1 19168478 rs35542368 G A,GA 36 idl,nt VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=3;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:83:A,G,GA:36:5:18:0:12,10,14:344,268,477:32.30,0.00,35.53:-0.16,0.00,4.69:32.45,0.00,30.83:0.00,0.00,1.00:0.00,0.00,0.87:0.00,0.00,1.00:60,60,60:131.0,34.4,70.5:9,0,4:0,0,0:75,145,115:68,4,33:36,3,15:NM_152232.2(TAS1R2) c.1468-132C>T,NM_152232.2(TAS1R2) c.1468-133_1468-132insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 19168533 rs12082240 C T 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.6238,T/0.3762;PC=0.001;Gene=TAS1R2/NM_152232.2/1;CC=c.1468-187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:0:0:0:8,18:225,596:0.00,61.26:0.00,0.00:0.00,61.26:0.00,1.00:0.00,0.00:0.00,1.00:60,60:70.8,83.0:0,0:0,0:121,122:28,28:18,13:-,NM_152232.2(TAS1R2) c.1468-187G>A:-,0.36:-,NOT_FOUND 1 19175635 rs28422791 C T 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5461,T/0.4539;Gene=TAS1R2/NM_152232.2/1;CC=c.1467+200G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:153:17.65:17.65:0.00:1.00:1.00:0.00:60:56.4:0:0:36:115:23:NM_152232.2(TAS1R2) c.1467+200G>A,NM_152232.2(TAS1R2) c.1467+200G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 1 19176045 . C . . NT END=19180706;NT GT ./. 1 19176254 rs6675384 C T 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6212,T/0.3788;PC=0.001;Gene=TAS1R2/NM_152232.2/1;CC=c.1258-210G>A;VC=Intron;DM=TAS1R2/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,T:10:0:0:0:4,6:135,162:0.00,16.10:0.00,0.00:0.00,16.10:0.00,0.99:0.00,0.00:0.00,0.99:60,60:2.0,60.0:0,0:0,0:88,97:62,53:34,12:-,NM_152232.2(TAS1R2) c.1258-210G>A:-,0.4:-,NOT_FOUND 1 19181015 rs34447754 G C 264 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=177;DB;DBA=NA;PAF=G/0.7618,C/0.2382;PC=0.252;Gene=TAS1R2/NM_152232.2/1;CC=c.949C>G;ProtCh=p.R317G;VC=Missense;DM=TAS1R2/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:177:119:0:0:91,86:2743,2672:264.38,0.00:131.85,0.00:132.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.1,8.3:0,0:0,0:67,64:83,84:41,31:NM_152232.2(TAS1R2) c.949C>G (p.Arg317Gly),-:0.24,-:0.299216,- 1 19181082 rs28470550 A C 308 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=A/0.7612,C/0.2388,G/.;Gene=TAS1R2/NM_152232.2/1;CC=c.882T>G;ProtCh=p.T294=;VC=Silent;DM=TAS1R2/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:200:132:0:0:95,104,1:3216,3179,12:0.00,307.50,-0.12:0.00,157.25,-0.10:0.00,150.25,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.6,53.9,87.0:0,0,0:0,0,0:61,73,28:87,73,122:34,38,0:-,NM_152232.2(TAS1R2) c.882T>G (p.(=)):-,0.24:-,0.300323 1 19181393 rs35874116 T C 254 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=169;DB;DBA=NA;PAF=T/0.733,C/0.267;Gene=TAS1R2/NM_152232.2/1;CC=c.571A>G;ProtCh=p.I191V;VC=Missense;DM=TAS1R2/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:169:101:0:0:84,85:2648,2686:253.88,0.00:110.41,0.00:143.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,6.7:0,0:0,0:80,84:70,67:42,32:NM_152232.2(TAS1R2) c.571A>G (p.Ile191Val),-:0.27,-:0.322467,- 1 19181481 . C . . NT END=19183824;NT GT ./. 1 19181740 rs35536592 GC G 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GC/0.8868,G/0.1132;NP=11;Gene=TAS1R2/NM_152232.2/1;CC=c.484-261delG;VC=Intron;DM=TAS1R2/ANF_receptor;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:GC,G:6:0:0:3:3,3:100,100:0.00,9.63:0.00,0.00:0.00,9.63:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,0.0:0,0:0,0:141,76:10,74:1,22:-,NM_152232.2(TAS1R2) c.484-261delG:-,0.09:-,NOT_FOUND 1 19184077 rs68081213 A G 295 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=180;DB;DBA=NA;PAF=A/0.7242,G/0.2758;Gene=TAS1R2/NM_152232.2/1;CC=c.231T>C;ProtCh=p.F77=;VC=Silent;DM=TAS1R2/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:180:112:0:0:86,94:2682,3043:0.00,295.04:0.00,120.10:0.00,174.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,39.6:0,0:0,0:77,68:69,78:37,36:-,NM_152232.2(TAS1R2) c.231T>C (p.(=)):-,0.28:-,0.333538 1 19184126 . C . . NT END=19185972;NT GT ./. 1 19186155 . G . . NT END=19199338;NT GT ./. 1 19199221 rs11740 C T 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5286,T/0.4714;Gene=ALDH4A1/NM_001161504.1/0;CC=c.*118G>A;VC=3UTR;Gene=ALDH4A1/NM_003748.3/0;CC=c.*118G>A;VC=3UTR;Gene=ALDH4A1/NM_170726.2/1;CC=c.*41+77G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:8,13:256,399:0.00,40.01:0.00,40.01:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.4,46.5:0,0:0,0:66,55:84,96:45,44:-,NM_170726.2(ALDH4A1) c.*41+77G>A:-,0.46:-,NOT_FOUND 1 19199452 . C . . NT END=19200956;NT GT ./. 1 19199473 rs28700162 T A 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.5286,A/0.4714;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1400-22A>T;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1580-22A>T;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1580-22A>T;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:44:24:0:0:23,21:758,661:73.56,0.00:25.08,0.00:48.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,4.6:0,0:0,0:89,107:59,43:34,26:NM_170726.2(ALDH4A1) c.1580-22A>T,-:0.46,-:0.368215,- 1 19200908 rs28529092 G C 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.4515,C/0.5485;PC=0.393;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1399+49C>G;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1579+49C>G;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1579+49C>G;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:41:39:0:0:23,18:687,550:67.34,0.00:59.37,0.00:7.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,5.8:0,0:0,0:68,46:83,104:41,25:NM_170726.2(ALDH4A1) c.1579+49C>G,-:0.53,-:0.437567,- 1 19201076 . C . . NT END=19201875;NT GT ./. 1 19201184 rs6665917 G C 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.3317,C/0.6683;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1281-109C>G;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1461-109C>G;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1461-109C>G;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:31:0:0:0:15,16:401,507:37.78,0.00:0.00,0.00:37.78,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:31.6,16.3:0,0:0,0:125,104:26,46:20,19:NM_170726.2(ALDH4A1) c.1461-109C>G,-:0.67,-:NOT_FOUND,- 1 19201211 rs397702649 T TG 21 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.3454,TG/0.6546;DB;DBA=NA;PAF=T/0.3454,TG/0.6546;NP=1910;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1281-137_1281-136insC;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1461-137_1461-136insC;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1461-137_1461-136insC;VC=Intron;DM=ALDH4A1/Aldedh;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:19:0:7:0:12,7:396,231:0.00,21.01:0.00,0.00:0.00,21.01:0.00,0.98:0.00,0.00:0.00,0.98:60,60:14.2,27.4:0,0:0,0:122,112:28,39:20,21:-,NM_170726.2(ALDH4A1) c.1461-137_1461-136insC:-,0.65:-,NOT_FOUND 1 19201623 rs28663527 A G 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2644,G/0.7356;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1280+253T>C;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1460+253T>C;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1460+253T>C;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:A,G:12:12:0:0:7,5:229,151:0.00,13.92:0.00,13.92:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:3.0,61.4:0,0:0,0:66,45:85,105:21,28:-,NM_170726.2(ALDH4A1) c.1460+253T>C:-,0.73:-,NOT_FOUND 1 19201665 rs28481840 A G 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4046,G/0.5954;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1280+211T>C;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1460+211T>C;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1460+211T>C;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:19:0:0:11,8:337,235:0.00,21.71:0.00,21.71:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:1.9,50.1:0,0:0,0:59,47:92,104:47,13:-,NM_170726.2(ALDH4A1) c.1460+211T>C:-,0.57:-,NOT_FOUND 1 19201928 rs2230709 C T 151 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.9521,T/0.04792;PC=0.983;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1228G>A;ProtCh=p.V410I;VC=Missense;Gene=ALDH4A1/NM_003748.3/0;CC=c.1408G>A;ProtCh=p.V470I;VC=Missense;Gene=ALDH4A1/NM_170726.2/1;CC=c.1408G>A;ProtCh=p.V470I;VC=Missense;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:116:77:0:0:66,50:2183,1617:0.00,151.11:0.00,75.05:0.00,76.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,39.0:0,0:0,0:84,61:48,89:38,31:-,NM_170726.2(ALDH4A1) c.1408G>A (p.Val470Ile):-,0.06:-,0.112025 1 19201956 rs2230708 A G 184 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.2628,G/0.7372;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1200T>C;ProtCh=p.D400=;VC=Silent;Gene=ALDH4A1/NM_003748.3/0;CC=c.1380T>C;ProtCh=p.D460=;VC=Silent;Gene=ALDH4A1/NM_170726.2/1;CC=c.1380T>C;ProtCh=p.D460=;VC=Silent;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:116:76:0:0:54,62:1773,1892:0.00,183.89:0.00,78.48:0.00,105.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,40.4:0,0:0,0:75,77:72,73:36,40:-,NM_170726.2(ALDH4A1) c.1380T>C (p.(=)):-,0.73:-,0.702214 1 19201998 . C . . NT END=19202808;NT GT ./. 1 19202176 rs41273173 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9529,A/0.04712;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1159-179C>T;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1339-179C>T;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1339-179C>T;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:16:0:0:0:6,10:167,277:14.95,0.00:0.00,0.00:14.95,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:40.8,22.1:0,0:0,0:112,103:38,46:23,27:NM_170726.2(ALDH4A1) c.1339-179C>T,-:0.06,-:NOT_FOUND,- 1 19202770 rs7550822 T C 231 nt VT=SNV;PN=A;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.08047,C/0.9195;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1158+39A>G;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1338+39A>G;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1338+39A>G;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:C:63:59:0:0:63:2016:231.46:166.04:65.42:1.00:1.00:1.00:60:43.8:0:0:46:98:28:NM_170726.2(ALDH4A1) c.1338+39A>G,NM_170726.2(ALDH4A1) c.1338+39A>G:0.92,0.92:0.913578,0.913578 1 19202896 rs2230707 G A 142 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.484,A/0.516;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1071C>T;ProtCh=p.A357=;VC=Silent;Gene=ALDH4A1/NM_003748.3/0;CC=c.1251C>T;ProtCh=p.A417=;VC=Silent;Gene=ALDH4A1/NM_170726.2/1;CC=c.1251C>T;ProtCh=p.A417=;VC=Silent;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:93:65:0:0:44,49:1488,1501:141.94,0.00:64.90,0.00:77.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.7,10.8:0,0:0,0:72,69:71,79:38,45:NM_170726.2(ALDH4A1) c.1251C>T (p.(=)),-:0.52,-:0.454713,- 1 19202917 rs7550938 T C 127 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.3391,C/0.6609;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1050A>G;ProtCh=p.S350=;VC=Silent;Gene=ALDH4A1/NM_003748.3/0;CC=c.1230A>G;ProtCh=p.S410=;VC=Silent;Gene=ALDH4A1/NM_170726.2/1;CC=c.1230A>G;ProtCh=p.S410=;VC=Silent;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:61:0:0:43,50:1345,1579:127.10,0.00:44.30,0.00:82.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:98.0,10.2:0,0:0,0:87,74:63,69:33,32:NM_170726.2(ALDH4A1) c.1230A>G (p.(=)),-:0.66,-:0.62302,- 1 19202926 rs2230706 T C 121 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.3399,C/0.6601,G/.;PC=0.992;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1041A>G;ProtCh=p.A347=;VC=Silent;Gene=ALDH4A1/NM_003748.3/0;CC=c.1221A>G;ProtCh=p.A407=;VC=Silent;Gene=ALDH4A1/NM_170726.2/1;CC=c.1221A>G;ProtCh=p.A407=;VC=Silent;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:89:57:0:0:41,48:1280,1515:120.81,0.00:37.79,0.00:83.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.0,11.7:0,0:0,0:78,78:73,71:34,34:NM_170726.2(ALDH4A1) c.1221A>G (p.(=)),-:0.66,-:0.621347,- 1 19202962 . C . . NT END=19203701;NT GT ./. 1 19203131 rs6664619 C A 37 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6859,A/0.3141;PC=0.001;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1006-170G>T;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1186-170G>T;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1186-170G>T;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,C:13:1:0:0:11,2:344,71:37.22,0.00:1.95,0.00:35.27,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:45.7,23.0:0,0:0,0:89,102:44,39:30,13:NM_170726.2(ALDH4A1) c.1186-170G>T,-:0.32,-:NOT_FOUND,- 1 19203155 rs151105387 C CTGTGTGTGTGTGTG 9 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1006-208_1006-195dupCACACACACACACA;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1186-208_1186-195dupCACACACACACACA;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1186-208_1186-195dupCACACACACACACA;VC=Intron;DM=ALDH4A1/Aldedh;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,CTGTGTGTGTGTGTG:11:1:4:0:8,3:277,133:0.00,8.63:0.00,1.64:0.00,6.99:0.00,0.59:0.00,0.50:0.00,0.59:60,60:36.2,75.3:0,1:0,0:128,62:16,89:15,15:-,NM_170726.2(ALDH4A1) c.1186-195_1186-194insCACACACACACACA:-,NOT_FOUND:-,NOT_FOUND 1 19203227 rs6664725 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6993,T/0.3007;Gene=ALDH4A1/NM_001161504.1/0;CC=c.1006-266G>A;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.1186-266G>A;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.1186-266G>A;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:C,T:10:4:0:0:2,8:49,258:0.00,27.47:0.00,8.65:0.00,18.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,45.8:0,0:0,0:77,95:67,34:1,37:-,NM_170726.2(ALDH4A1) c.1186-266G>A:-,0.31:-,NOT_FOUND 1 19203750 . C . . NT END=19203909;NT GT ./. 1 19203997 rs2230705 C G 448 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.3584,G/0.6416;PC=1.000;Gene=ALDH4A1/NM_001161504.1/0;CC=c.870G>C;ProtCh=p.A290=;VC=Silent;Gene=ALDH4A1/NM_003748.3/0;CC=c.1050G>C;ProtCh=p.A350=;VC=Silent;Gene=ALDH4A1/NM_170726.2/1;CC=c.1050G>C;ProtCh=p.A350=;VC=Silent;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:120:86:0:0:120:3908:447.90:230.28:217.62:1.00:1.00:1.00:60:37.4:0:0:84:62:33:NM_170726.2(ALDH4A1) c.1050G>C (p.(=)),NM_170726.2(ALDH4A1) c.1050G>C (p.(=)):0.65,0.65:0.711538,0.711538 1 19204107 . C . . NT END=19205793;NT GT ./. 1 19204154 rs6426813 G A 95 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.1891,A/0.8109;Gene=ALDH4A1/NM_001161504.1/0;CC=c.761-48C>T;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.941-48C>T;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.941-48C>T;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:30:0:0:32,23:956,674:94.61,0.00:38.29,0.00:56.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.5,56.0:0,0:0,0:108,99:34,33:31,31:NM_170726.2(ALDH4A1) c.941-48C>T,-:0.79,-:0.726323,- 1 19204173 rs6426814 A G 140 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.1711,G/0.8289;Gene=ALDH4A1/NM_001161504.1/0;CC=c.761-67T>C;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.941-67T>C;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.941-67T>C;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:G:40:16:0:0:40:1207:139.57:44.61:94.96:1.00:1.00:1.00:60:70.1:0:0:97:32:38:NM_170726.2(ALDH4A1) c.941-67T>C,NM_170726.2(ALDH4A1) c.941-67T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 19204309 rs41302007 G A 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7426,A/0.2574;Gene=ALDH4A1/NM_001161504.1/0;CC=c.761-203C>T;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.941-203C>T;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.941-203C>T;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:12:1:0:0:6,6:194,186:18.66,0.00:1.84,0.00:16.82,0.00:0.98,0.00:0.67,0.00:0.98,0.00:60,60:68.8,7.8:0,0:0,0:124,96:23,54:5,23:NM_170726.2(ALDH4A1) c.941-203C>T,-:0.25,-:NOT_FOUND,- 1 19205672 rs28497538 T G 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5649,G/0.4351;Gene=ALDH4A1/NM_001161504.1/0;CC=c.760+122A>C;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.940+122A>C;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.940+122A>C;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:19:0:0:9,10:291,283:27.69,0.00:27.69,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.2,21.6:0,0:0,0:69,54:82,96:29,24:NM_170726.2(ALDH4A1) c.940+122A>C,-:0.4,-:NOT_FOUND,- 1 19205868 . C . . NT END=19208193;NT GT ./. 1 19208145 rs112548638 G GGGTTGCCT 182 nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.01697,GGGTTGCCC/.,GGGTTGCCT/0.983,GGGTTTGCCT/.;NP=1;NP=6;Gene=ALDH4A1/NM_001161504.1/0;CC=c.686+48_686+49insAGGCAACC;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.866+48_866+49insAGGCAACC;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.866+48_866+49insAGGCAACC;VC=Intron;DM=ALDH4A1/Aldedh;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G,GGGTTGCCT:53:51:51:0:2,51:41,1615:0.00,182.18:0.00,160.02:0.00,22.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:95.0,3.3:1,0:0,0:101,43:46,107:40,20:NM_170726.2(ALDH4A1) c.866+48_866+49insAGGCAACC,NM_170726.2(ALDH4A1) c.866+48_866+49insAGGCAACC:0.98,0.98:0.973005,0.973005 1 19208382 . C . . NT END=19209617;NT GT ./. 1 19209543 rs6426611 A G 162 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.03195,G/0.9681;Gene=ALDH4A1/NM_001161504.1/0;CC=c.498+75T>C;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.678+75T>C;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.678+75T>C;VC=Intron;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C,G:47:43:0:0:1,46:11,1406:0.23,162.08:0.23,138.19:0.00,23.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:116.0,39.8:0,0:0,0:55,46:96,105:0,24:NM_170726.2(ALDH4A1) c.678+75T>C,NM_170726.2(ALDH4A1) c.678+75T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 19209693 . C . . NT END=19209772;NT GT ./. 1 19209923 . C . . NT END=19211966;NT GT ./. 1 19210018 rs28508407 G A 105 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.6793,A/0.3207;Gene=ALDH4A1/NM_001161504.1/0;CC=c.274-96C>T;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.454-96C>T;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.454-96C>T;VC=Intron;DM=ALDH4A1/Aldedh;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:12:0:0:32,29:1084,924:105.32,0.00:11.67,0.00:93.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,10.1:0,0:0,0:112,89:37,62:19,31:NM_170726.2(ALDH4A1) c.454-96C>T,-:0.29,-:NOT_FOUND,- 1 19212123 . C . . NT END=19212957;NT GT ./. 1 19213006 . C . . NT END=19215855;NT GT ./. 1 19215834 rs941495 T C 177 nt VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.01558,C/0.9844;Gene=ALDH4A1/NM_001161504.1/0;CC=c.69+22A>G;VC=Intron;Gene=ALDH4A1/NM_003748.3/0;CC=c.249+22A>G;VC=Intron;Gene=ALDH4A1/NM_170726.2/1;CC=c.249+22A>G;VC=Intron;DM=ALDH4A1/Aldedh;DM=ALDH4A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C:49:43:0:0:49:1537:177.02:123.68:53.35:1.00:1.00:1.00:60:37.7:0:0:51:97:23:NM_170726.2(ALDH4A1) c.249+22A>G,NM_170726.2(ALDH4A1) c.249+22A>G:0.98,0.98:0.972335,0.972335 1 19215949 . C . . NT END=19216505;NT GT ./. 1 19216600 . C . . NT END=19217187;NT GT ./. 1 19217386 . A . . NT END=19227368;NT GT ./. 1 19227422 . C . . NT END=19228955;NT GT ./. 1 19229018 . C . . NT END=19235054;NT GT ./. 1 19235161 . C . . NT END=19236835;NT GT ./. 1 19236681 rs60534604 CTGGA C 28 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=CTGGA/0.8886,C/0.1114;NP=34;Gene=IFFO2/NM_001136265.1/1;CC=c.1448+151_1448+154delTCCA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTGGA,C:28:28:0:10:18,10:521,307:0.00,27.57:0.00,27.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:33.3,16.6:0,0:0,0:72,41:61,109:36,10:-,NM_001136265.1(IFFO2) c.1448+151_1448+154delTCCA:-,NOT_FOUND:-,NOT_FOUND 1 19236967 . C . . NT END=19237877;NT GT ./. 1 19237971 . C . . NT END=19238456;NT GT ./. 1 19238001 rs71030110 T TTTTA 10 rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.945;Gene=IFFO2/NM_001136265.1/1;CC=c.1225-32_1225-31insTAAA;VC=Intron;DM=IFFO2/Filament;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:T,TTTTA:25:11:4:1:21,4:640,131:0.00,10.24:0.00,6.99:0.00,3.25:0.00,0.67:0.00,0.79:0.00,0.93:60,60:29.3,0.0:0,0:0,0:110,70:34,80:19,9:-,NM_001136265.1(IFFO2) c.1225-32_1225-31insTAAA:-,NOT_FOUND:-,0.208824 1 19238578 . C . . NT END=19243396;NT GT ./. 1 19243266 rs71954102 C CA 9 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.007;Gene=IFFO2/NM_001136265.1/1;CC=c.1103+130_1103+131insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,CA,D:33:33:4:3:27,4,2:865,124,98:0.00,9.13,4.39:0.00,9.21,4.43:0.00,-0.08,-0.04:0.00,0.62,0.00:0.00,0.95,0.00:0.00,0.35,0.00:60,60,60:8.9,16.2,9.5:0,0,1:0,0,0:33,25,36:117,125,115:24,8,29:-,NM_001136265.1(IFFO2) c.1103+130_1103+131insT:-,NOT_FOUND:-,NOT_FOUND 1 19243537 . C . . NT END=19244855;NT GT ./. 1 19243589 rs3748586 A G 76 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.5653,G/0.4347;PC=0.288;Gene=IFFO2/NM_001136265.1/1;CC=c.964-53T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:24:0:0:29,24:922,805:0.00,76.12:0.00,28.43:0.00,47.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,42.3:0,0:0,0:114,100:37,46:19,14:-,NM_001136265.1(IFFO2) c.964-53T>C:-,0.42:-,NOT_FOUND 1 19244678 rs4912056 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8077,T/0.1923;Gene=IFFO2/NM_001136265.1/1;CC=c.963+178G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:12:12:0:0:5,7:169,224:0.00,22.20:0.00,22.20:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.2,40.3:0,0:0,0:88,48:63,83:32,24:-,NM_001136265.1(IFFO2) c.963+178G>A:-,0.2:-,NOT_FOUND 1 19244997 . C . . NT END=19246171;NT GT ./. 1 19246268 . C . . NT END=19247554;NT GT ./. 1 19246539 rs28677055 G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9083,A/0.09165;Gene=IFFO2/NM_001136265.1/1;CC=c.727-272C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:4:0:0:0:2,2:68,70:6.55,0.00:0.00,0.00:6.55,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:47.5,0.0:0,0:0,0:81,32:69,118:17,7:NM_001136265.1(IFFO2) c.727-272C>T,-:0.09,-:NOT_FOUND,- 1 19247616 . C . . NT END=19282161;NT GT ./. 1 19282032 rs74957812 T C 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.7226,C/0.2774;Gene=IFFO2/NM_001136265.1/1;CC=c.665+130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:46:0:0:20,26:635,839:59.37,0.00:54.99,0.00:4.38,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:37.7,8.2:0,0:0,0:59,48:92,101:34,24:NM_001136265.1(IFFO2) c.665+130A>G,-:0.26,-:NOT_FOUND,- 1 19282707 . C . . NT END=19401325;NT GT ./. 1 19282944 rs4912132 G A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6563,A/0.3437;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:5:0:0:0:3,2:104,46:10.38,0.00:0.00,0.00:10.38,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:45.3,51.0:0,0:0,0:129,99:22,51:12,4:NM_001136265.1(IFFO2) c.1-u118C>T,-:0.38,-:NOT_FOUND,- 1 19401391 . C . . NT END=19403233;NT GT ./. 1 19403397 . C . . NT END=19404278;NT GT ./. 1 19404071 rs2146867 A T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2704,T/0.7296;Gene=UBR4/NM_020765.2/1;CC=c.15324+399T>A;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:16:16:0:0:8,8:251,237:0.00,22.65:0.00,22.65:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.6,40.8:0,0:0,0:15,53:135,90:2,24:-,NM_020765.2(UBR4) c.15324+399T>A:-,0.73:-,NOT_FOUND 1 19404342 . C . . NT END=19404469;NT GT ./. 1 19404561 . C . . NT END=19407842;NT GT ./. 1 19408068 . C . . NT END=19410997;NT GT ./. 1 19408380 rs12164540 T C 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6256,C/0.3744;Gene=UBR4/NM_020765.2/1;CC=c.15009-313A>G;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:4:0:0:0:3,1:69,30:7.30,0.00:0.00,0.00:7.30,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:40.7,63.0:0,0:0,0:68,120:83,31:11,0:NM_020765.2(UBR4) c.15009-313A>G,-:0.39,-:NOT_FOUND,- 1 19411129 rs1043905 A G 217 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=A/0.2812,C/.,G/0.7188;PC=0.125;Gene=UBR4/NM_020765.2/1;CC=c.14877T>C;ProtCh=p.H4959=;VC=Silent;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:132:77:0:0:64,68:2063,2239:0.00,216.65:0.00,70.15:0.00,146.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,40.3:0,0:0,0:69,79:81,71:41,34:-,NM_020765.2(UBR4) c.14877T>C (p.(=)):-,0.72:-,0.671459 1 19411193 . C . . NT END=19412638;NT GT ./. 1 19412464 rs2274009 C T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.399,T/0.601;Gene=UBR4/NM_020765.2/1;CC=c.14813+175G>A;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:14:14:0:0:7,1,6:216,11,211:0.00,0.31,20.05:0.00,0.31,20.05:0.00,0.00,0.00:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.00:60,60,60:5.7,96.0,35.2:0,0,0:0,0,0:88,20,72:63,131,78:43,0,27:-,NM_020765.2(UBR4) c.14813+175G>A:-,0.64:-,NOT_FOUND 1 19412765 . C . . NT END=19413172;NT GT ./. 1 19412837 . C G 12 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;Gene=UBR4/NM_020765.2/1;CC=c.14688-73G>C;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,C,G:31:20:0:0:1,25,5:10,743,159:-0.09,0.00,12.43:-0.01,0.00,-1.45:-0.08,0.00,13.88:0.00,0.00,0.80:0.00,0.00,0.93:0.00,0.00,0.79:60,60,60:174.0,6.0,71.4:0,0,0:0,0,0:83,112,38:60,31,82:0,30,9:-,NM_020765.2(UBR4) c.14688-73G>C:-,NOT_FOUND:-,NOT_FOUND 1 19412843 . T G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;PC=0.009;Gene=UBR4/NM_020765.2/1;CC=c.14688-79A>C;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:G,T:26:18:0:1:6,20:110,369:7.82,0.00:-1.11,0.00:8.92,0.00:0.91,0.00:0.98,0.00:0.87,0.00:60,60:59.0,13.1:0,1:0,0:44,89:75,49:19,29:NM_020765.2(UBR4) c.14688-79A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 19412849 . T G 13 sb;idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;NP=1;Gene=UBR4/NM_020765.2/1;CC=c.14688-85A>C;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,G,T,I:29:21:3:1:1,7,19,2:10,163,376,50:-0.00,13.07,0.00,1.23:0.03,0.55,0.00,-0.50:-0.03,12.52,0.00,1.74:0.00,0.95,0.00,0.00:0.00,0.99,0.00,0.00:0.00,0.92,0.00,0.00:60,60,60,60:27.0,80.0,10.6,30.0:0,0,0,1:0,0,0,0:94,51,111,26:55,68,32,118:0,12,23,19:NM_020765.2(UBR4) c.14688-85A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 19413261 rs12584 T A 181 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=T/0.3986,A/0.6014,C/.;PC=1.000;Gene=UBR4/NM_020765.2/1;CC=c.14599A>T;ProtCh=p.M4867L;VC=Missense;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:128:76:0:0:64,1,1,62:1889,16,11,2009:181.35,0.07,-0.11,0.00:79.40,-0.09,-0.09,0.00:101.95,0.16,-0.03,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:35.7,16.0,135.0,2.6:0,0,0,0:0,0,0,0:85,141,133,84:65,10,18,63:43,0,0,34:NM_020765.2(UBR4) c.14599A>T (p.Met4867Leu),-:0.64,-:0.559895,- 1 19413316 . C . . NT END=19414309;NT GT ./. 1 19413420 rs2274008 T G 80 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.2817,G/0.7183;Gene=UBR4/NM_020765.2/1;CC=c.14545-105A>C;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:56:13:0:0:27,29:845,950:80.49,0.00:12.35,0.00:68.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,1.0:0,0:0,0:121,110:30,40:20,24:NM_020765.2(UBR4) c.14545-105A>C,-:0.72,-:NOT_FOUND,- 1 19414424 . C . . NT END=19415252;NT GT ./. 1 19415304 rs1043899 C T 178 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.4081,T/0.5919;PC=1.000;Gene=UBR4/NM_020765.2/1;CC=c.14379G>A;ProtCh=p.K4793=;VC=Silent;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:112:92:0:0:50,1,61:1696,10,1824:0.00,-0.10,178.20:0.00,-0.11,128.04:0.00,0.01,50.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.3,188.0,39.4:0,0,0:0,0,0:73,102,53:71,31,95:30,0,28:-,NM_020765.2(UBR4) c.14379G>A (p.(=)):-,0.63:-,0.552591 1 19415472 . C . . NT END=19419312;NT GT ./. 1 19419413 . C . . NT END=19419806;NT GT ./. 1 19419981 . C . . NT END=19420442;NT GT ./. 1 19420392 rs1106839 G A 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.2859,A/0.7141;Gene=UBR4/NM_020765.2/1;CC=c.13937+51C>T;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:45:0:0:24,27:770,817:73.11,0.00:57.13,0.00:15.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,4.5:0,0:0,0:50,31:99,119:27,19:NM_020765.2(UBR4) c.13937+51C>T,-:0.72,-:0.666462,- 1 19420634 . C . . NT END=19421399;NT GT ./. 1 19421520 . C . . NT END=19422038;NT GT ./. 1 19421856 rs2274006 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2857,G/0.7143;Gene=UBR4/NM_020765.2/1;CC=c.13626+183T>C;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:9:4:0:0:6,3:187,86:0.00,7.54:0.00,2.27:0.00,5.27:0.00,0.64:0.00,0.81:0.00,0.86:60,60:26.3,50.0:0,0:0,0:81,105:69,46:35,9:-,NM_020765.2(UBR4) c.13626+183T>C:-,0.72:-,NOT_FOUND 1 19422147 . C . . NT END=19423016;NT GT ./. 1 19423145 . c . . NT END=19423686;NT GT ./. 1 19423486 rs56198620 CT C 11 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CT/0.375,C/0.625;DB;DBA=NA;PAF=CT/0.375,C/0.625;NP=67;PC=0.005;Gene=UBR4/NM_020765.2/1;CC=c.13390+200delA;VC=Intron;DM=UBR4/E3_UbLigase_R4;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:CT,I,C:10:9:2:5:4,2,4:136,64,136:0.00,5.53,10.96:0.00,5.61,11.16:0.00,-0.09,-0.20:0.00,0.00,0.82:0.00,0.00,0.97:0.00,0.00,0.66:60,60,60:19.2,11.0,105.8:0,0,1:0,0,0:143,30,31:8,119,120:1,18,23:-,NM_020765.2(UBR4) c.13390+200delA:-,NOT_FOUND:-,NOT_FOUND 1 19423565 rs2296105 T C 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3956,C/0.6044;Gene=UBR4/NM_020765.2/1;CC=c.13390+122A>G;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:23:23:0:0:16,7:470,185:48.43,0.00:48.43,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.7,31.6:0,0:0,0:43,55:106,94:25,39:NM_020765.2(UBR4) c.13390+122A>G,-:0.64,-:NOT_FOUND,- 1 19423775 . C . . NT END=19426090;NT GT ./. 1 19426172 . C . . NT END=19426869;NT GT ./. 1 19426199 rs2236377 G A 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.2857,A/0.7143;PC=0.469;Gene=UBR4/NM_020765.2/1;CC=c.13222-28C>T;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:21:0:0:19,21:617,656:58.77,0.00:17.86,0.00:40.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,11.3:0,0:0,0:96,90:54,58:34,30:NM_020765.2(UBR4) c.13222-28C>T,-:0.72,-:0.666385,- 1 19427068 . C . . NT END=19428013;NT GT ./. 1 19428136 . C . . NT END=19430577;NT GT ./. 1 19430752 . C . . NT END=19431078;NT GT ./. 1 19431161 . C . . NT END=19431541;NT GT ./. 1 19431684 . C . . NT END=19432226;NT GT ./. 1 19431861 rs942180 T C 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.001797,C/0.9982;Gene=UBR4/NM_020765.2/1;CC=c.12504-178A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:386:45.20:0.00:45.20:1.00:0.00:1.00:60:59.3:0:0:95:54:25:NM_020765.2(UBR4) c.12504-178A>G,NM_020765.2(UBR4) c.12504-178A>G:1,1:NOT_FOUND,NOT_FOUND 1 19432337 . C . . NT END=19433062;NT GT ./. 1 19433221 . C . . NT END=19433330;NT GT ./. 1 19433449 rs6426677 A G 161 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=124;DB;DBA=NA;PAF=A/0.2808,G/0.7192;Gene=UBR4/NM_020765.2/1;CC=c.12117T>C;ProtCh=p.V4039=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:124:77:0:0:70,54:2331,1727:0.00,161.47:0.00,49.86:0.00,111.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,44.6:0,0:0,0:103,74:46,70:28,38:-,NM_020765.2(UBR4) c.12117T>C (p.(=)):-,0.73:-,0.671767 1 19433461 . C . . NT END=19436589;NT GT ./. 1 19433612 rs6674453 T A 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.969,A/0.03095;Gene=UBR4/NM_020765.2/1;CC=c.12106-152A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:2:0:0:11,16:333,498:30.62,0.00:5.23,0.00:25.39,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:40.1,7.1:0,0:0,0:116,102:35,49:30,20:NM_020765.2(UBR4) c.12106-152A>T,-:0.04,-:NOT_FOUND,- 1 19436718 . C . . NT END=19436873;NT GT ./. 1 19436959 . C . . NT END=19437235;NT GT ./. 1 19437185 rs10916957 G T 55 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.8323,T/0.1677;Gene=UBR4/NM_020765.2/1;CC=c.11892+51C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:34:0:0:21,20:690,576:0.00,54.74:0.00,38.61:0.00,16.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,33.8:0,0:0,0:45,53:106,98:31,30:-,NM_020765.2(UBR4) c.11892+51C>A:-,0.18:-,0.196217 1 19437327 . C . . NT END=19439017;NT GT ./. 1 19439362 . C . . NT END=19440192;NT GT ./. 1 19440105 rs12139884 C T 100 nt VT=SNV;PN=G;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.9828,T/0.01717;Gene=UBR4/NM_020765.2/1;CC=c.11457+88G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:63:60:0:0:29,1,33:988,9,1033:0.00,-0.08,100.41:0.00,-0.04,83.26:0.00,-0.04,17.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:36.0,103.0,34.8:0,0,0:0,0,0:49,39,31:95,112,120:24,0,19:-,NM_020765.2(UBR4) c.11457+88G>A:-,0.03:-,NOT_FOUND 1 19440107 rs9661719 A G 94 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.2871,G/0.7129;Gene=UBR4/NM_020765.2/1;CC=c.11457+86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:66:62:0:0:34,31,1:1077,986,8:0.00,93.81,-0.14:0.00,72.42,-0.10:0.00,21.39,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:34.6,38.6,16.0:0,0,0:0,0,0:37,37,69:113,110,82:19,29,0:-,NM_020765.2(UBR4) c.11457+86T>C:-,0.72:-,NOT_FOUND 1 19440322 . C . . NT END=19440438;NT GT ./. 1 19440565 . C . . NT END=19441304;NT GT ./. 1 19441212 rs2274003 A G 52 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.3359,G/0.6641;Gene=UBR4/NM_020765.2/1;CC=c.11202+93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:48:0:0:34,18:1073,575:0.00,51.54:0.00,43.18:0.00,8.36:0.00,1.00:0.00,1.00:0.00,0.97:60,60:10.7,49.1:0,0:0,0:47,29:103,121:32,26:-,NM_020765.2(UBR4) c.11202+93T>C:-,0.68:-,NOT_FOUND 1 19441444 . C . . NT END=19441891;NT GT ./. 1 19441693 rs397979426 G GCA 23 rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;Gene=UBR4/NM_020765.2/1;CC=c.11063+198_11063+199insTG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCA,D:23:17:8:1:14,8,1:481,258,28:0.00,23.35,1.65:0.00,18.05,1.72:0.00,5.29,-0.08:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.91,0.00:70,60,60:3.9,21.1,0.0:0,0,0:0,0,0:34,52,108:116,98,43:28,22,0:-,NM_020765.2(UBR4) c.11063+198_11063+199insTG:-,NOT_FOUND:-,NOT_FOUND 1 19441723 rs370299174 ACTCT A 45 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=34;Gene=UBR4/NM_020765.2/1;CC=c.11063+165_11063+168delAGAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTCT,A:32:26:0:15:17,15:524,479:0.00,45.46:0.00,35.84:0.00,9.62:0.00,1.00:0.00,1.00:0.00,0.97:60,70:15.4,0.7:0,0:0,0:66,62:85,89:40,44:-,NM_020765.2(UBR4) c.11063+165_11063+168delAGAG:-,NOT_FOUND:-,NOT_FOUND 1 19442132 . C . . NT END=19443714;NT GT ./. 1 19443909 . C . . NT END=19444316;NT GT ./. 1 19444405 . C . . NT END=19445365;NT GT ./. 1 19445452 . C . . NT END=19446050;NT GT ./. 1 19446196 . C . . NT END=19446673;NT GT ./. 1 19446388 rs2296104 T C 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.2827,C/0.7173;Gene=UBR4/NM_020765.2/1;CC=c.10311-193A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:2:0:0:8,12:209,344:18.85,0.00:-0.44,0.00:19.29,0.00:0.99,0.00:0.70,0.00:1.00,0.00:60,60:43.6,9.1:0,0:0,0:116,108:30,42:23,22:NM_020765.2(UBR4) c.10311-193A>G,-:0.72,-:NOT_FOUND,- 1 19446587 rs6693149 C T 55 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8309,T/0.1691;Gene=UBR4/NM_020765.2/1;CC=c.10310+87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:28:28:0:0:11,1,16:322,5,554:0.00,-0.10,55.11:0.00,-0.09,55.29:0.00,-0.01,-0.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.71:60,60,60:3.9,133.0,35.4:0,0,0:0,0,0:59,21,30:91,122,120:45,0,15:-,NM_020765.2(UBR4) c.10310+87G>A:-,0.18:-,NOT_FOUND 1 19446843 . C . . NT END=19447682;NT GT ./. 1 19447498 rs6426678 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3357,C/0.6643;Gene=UBR4/NM_020765.2/1;CC=c.10141+185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:229,232:22.02,0.00:22.02,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:60.6,0.0:0,0:0,0:29,42:122,109:20,28:NM_020765.2(UBR4) c.10141+185A>G,-:0.68,-:NOT_FOUND,- 1 19447843 rs1044010 C G 182 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.3996,G/0.6004;PC=0.990;Gene=UBR4/NM_020765.2/1;CC=c.9981G>C;ProtCh=p.L3327=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:135:86:0:0:76,59:2477,1942:0.00,182.18:0.00,77.19:0.00,104.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,38.7:0,0:0,0:78,78:72,67:41,35:-,NM_020765.2(UBR4) c.9981G>C (p.(=)):-,0.64:-,0.560126 1 19447929 . C . . NT END=19448427;NT GT ./. 1 19448326 rs6681662 C T 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.367,T/0.633;Gene=UBR4/NM_020765.2/1;CC=c.9895+102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:20:0:0:9,13:302,415:0.00,41.24:0.00,32.41:0.00,8.82:0.00,1.00:0.00,1.00:0.00,0.94:60,60:6.7,39.5:0,0:0,0:16,30:134,120:14,26:-,NM_020765.2(UBR4) c.9895+102G>A:-,0.66:-,NOT_FOUND 1 19448507 . C . . NT END=19449326;NT GT ./. 1 19448608 rs7535738 C G 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.3357,G/0.6643;PC=0.001;Gene=UBR4/NM_020765.2/1;CC=c.9817-102G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:4:0:0:17,10:527,324:0.00,29.43:0.00,1.43:0.00,28.00:0.00,1.00:0.00,0.84:0.00,1.00:60,60:11.1,50.9:0,0:0,0:120,94:31,54:28,30:-,NM_020765.2(UBR4) c.9817-102G>C:-,0.68:-,NOT_FOUND 1 19448814 rs942179 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2831,C/0.7169;Gene=UBR4/NM_020765.2/1;CC=c.9817-308A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:0:0:0:3,1:62,31:6.61,0.00:0.00,0.00:6.61,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:94.3,0.0:0,0:0,0:125,105:26,46:2,0:NM_020765.2(UBR4) c.9817-308A>G,-:0.72,-:NOT_FOUND,- 1 19449555 . C . . NT END=19451034;NT GT ./. 1 19451185 . C . . NT END=19452939;NT GT ./. 1 19453150 . C . . NT END=19454116;NT GT ./. 1 19454234 . C . . NT END=19454704;NT GT ./. 1 19454813 . C . . NT END=19455471;NT GT ./. 1 19455569 . C . . NT END=19464500;NT GT ./. 1 19464676 . C . . NT END=19465576;NT GT ./. 1 19464773 rs2274001 C T 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.3051,T/0.6949;Gene=UBR4/NM_020765.2/1;CC=c.8732-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:42:12:0:0:1,23,18:9,780,564:-0.07,0.00,52.77:-0.03,0.00,14.16:-0.04,0.00,38.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:203.0,1.8,33.9:0,0,0:0,0,0:131,89,111:19,62,40:0,33,21:-,NM_020765.2(UBR4) c.8732-98G>A:-,0.71:-,NOT_FOUND 1 19465715 . C . . NT END=19467281;NT GT ./. 1 19467387 . C . . NT END=19467840;NT GT ./. 1 19468019 . C . . NT END=19468140;NT GT ./. 1 19468272 . C . . NT END=19470473;NT GT ./. 1 19470586 . C . . NT END=19471279;NT GT ./. 1 19470662 rs4912050 T C 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9685,C/0.03155;Gene=UBR4/NM_020765.2/1;CC=c.8068-77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:7:0:0:11,15:314,483:28.92,0.00:4.72,0.00:24.20,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:40.4,12.0:0,0:0,0:111,99:39,52:24,27:NM_020765.2(UBR4) c.8068-77A>G,-:0.04,-:NOT_FOUND,- 1 19470749 rs2296109 G C 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3051,C/0.6949;Gene=UBR4/NM_020765.2/1;CC=c.8068-164C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,G:11:1:0:0:6,5:195,168:19.07,0.00:-0.17,0.00:19.24,0.00:0.98,0.00:0.70,0.00:0.98,0.00:60,60:45.8,0.0:0,0:0,0:49,83:101,68:41,17:NM_020765.2(UBR4) c.8068-164C>G,-:0.71,-:NOT_FOUND,- 1 19471402 . C . . NT END=19472286;NT GT ./. 1 19472428 . C . . NT END=19472516;NT GT ./. 1 19472601 . C . . NT END=19473319;NT GT ./. 1 19473495 . C . . NT END=19474486;NT GT ./. 1 19474622 . C . . NT END=19475056;NT GT ./. 1 19474751 rs199984248 G GA 7 rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=11;PC=0.039;Gene=UBR4/NM_020765.2/1;CC=c.7495-131dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,G,GA,D:33:5:4:2:1,26,4,2:9,717,102,60:-0.14,0.00,7.00,3.82:-0.05,0.00,1.11,-0.11:-0.09,0.00,5.90,3.93:0.00,0.00,0.62,0.00:0.00,0.00,0.47,0.00:0.00,0.00,0.93,0.00:60,60,60,60:128.0,14.6,35.0,34.0:0,0,0,0:0,0,0,0:130,102,48,127:20,48,92,23:0,39,2,2:-,NM_020765.2(UBR4) c.7495-131_7495-130insT:-,NOT_FOUND:-,NOT_FOUND 1 19475121 . C . . NT END=19476256;NT GT ./. 1 19476290 . C . . NT END=19477070;NT GT ./. 1 19476307 . G GA 16 sb;idl,rn VT=INS;SST=Single;DP=67;PC=1.000;Gene=UBR4/NM_020765.2/1;CC=c.7430+763dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G,GA,D:67:41:7:6:2,53,7,5:39,1559,218,162:1.52,0.00,15.75,11.18:-0.34,0.00,1.61,1.82:1.86,0.00,14.14,9.35:0.00,0.00,0.89,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.98,0.00:60,60,60,60:55.5,26.4,36.6,17.2:0,0,0,0:0,0,0,0:97,98,74,110:40,39,71,41:0,27,24,11:-,NM_020765.2(UBR4) c.7430+763_7430+764insT:-,NOT_FOUND:-,NOT_FOUND 1 19477288 . C . . NT END=19478136;NT GT ./. 1 19478354 . C . . NT END=19478806;NT GT ./. 1 19478971 . C . . NT END=19479794;NT GT ./. 1 19479997 . C . . NT END=19480261;NT GT ./. 1 19480434 . C . . NT END=19481411;NT GT ./. 1 19481573 . C . . NT END=19481934;NT GT ./. 1 19482163 . C . . NT END=19482764;NT GT ./. 1 19482918 . C . . NT END=19483260;NT GT ./. 1 19483420 . C . . NT END=19484308;NT GT ./. 1 19484492 . C . . NT END=19486604;NT GT ./. 1 19486776 . C . . NT END=19487410;NT GT ./. 1 19486804 . G GA 11 idl,rn VT=INS;SST=Single;DP=55;PC=0.304;Gene=UBR4/NM_020765.2/1;CC=c.5407-30dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G,T,GA,D:54:21:6:4:4,40,1,6,3:55,1256,10,155,128:1.98,0.00,-0.15,10.60,6.17:-0.31,0.00,-0.08,-0.48,5.85:2.29,0.00,-0.07,11.08,0.32:0.00,0.00,0.00,0.83,0.00:0.00,0.00,0.00,0.82,0.00:0.00,0.00,0.00,0.98,0.00:60,60,60,60,60:98.0,26.4,90.0,93.8,23.3:0,0,0,1,1:0,0,0,0,0:66,100,76,103,103:60,41,75,47,34:38,24,0,23,26:-,NM_020765.2(UBR4) c.5407-30_5407-29insT:-,NOT_FOUND:-,NOT_FOUND 1 19486839 rs946419 T C 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.2829,C/0.7171;Gene=UBR4/NM_020765.2/1;CC=c.5407-64A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:14:0:0:22,21:670,690:64.57,0.00:10.32,0.00:54.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.1,35.5:0,0:0,0:89,107:37,44:41,17:NM_020765.2(UBR4) c.5407-64A>G,-:0.72,-:NOT_FOUND,- 1 19487642 . C . . NT END=19488082;NT GT ./. 1 19488231 . C . . NT END=19488320;NT GT ./. 1 19488392 . C . . NT END=19488913;NT GT ./. 1 19488839 rs1999967 C A 73 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.2877,A/0.7123;Gene=UBR4/NM_020765.2/1;CC=c.4956+75G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:52:48:0:0:26,26:767,855:73.39,0.00:67.78,0.00:5.61,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:46.8,2.6:0,0:0,0:42,29:108,120:30,18:NM_020765.2(UBR4) c.4956+75G>T,-:0.72,-:NOT_FOUND,- 1 19489106 . C . . NT END=19490257;NT GT ./. 1 19490322 . C . . NT END=19490746;NT GT ./. 1 19490936 . C . . NT END=19491292;NT GT ./. 1 19491492 . C . . NT END=19491742;NT GT ./. 1 19491844 . C . . NT END=19492149;NT GT ./. 1 19491857 rs3748757 T C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.2819,C/0.7181;PC=0.027;Gene=UBR4/NM_020765.2/1;CC=c.4212-14A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:17:0:0:21,14:637,476:63.41,0.00:16.17,0.00:47.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,4.3:0,0:0,0:100,82:50,68:23,19:NM_020765.2(UBR4) c.4212-14A>G,-:0.73,-:0.671844,- 1 19492252 . C . . NT END=19493515;NT GT ./. 1 19493726 . C . . NT END=19494520;NT GT ./. 1 19494679 . C . . NT END=19495928;NT GT ./. 1 19496027 . C . . NT END=19497255;NT GT ./. 1 19497378 . C . . NT END=19499357;NT GT ./. 1 19499120 rs10917061 G A 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.2875,A/0.7125;PC=0.003;Gene=UBR4/NM_020765.2/1;CC=c.3521+238C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:9:9:0:0:6,3:204,70:20.83,0.00:20.83,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:37.8,19.3:0,0:0,0:70,50:81,100:29,20:NM_020765.2(UBR4) c.3521+238C>T,-:0.72,-:NOT_FOUND,- 1 19499560 rs16862578 T C 179 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.8614,C/0.1386;PC=1.000;Gene=UBR4/NM_020765.2/1;CC=c.3319A>G;ProtCh=p.T1107A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:115:65:0:0:1,55,1,58:12,1872,9,1801:-0.08,179.42,-0.16,0.00:0.04,64.63,-0.03,0.00:-0.13,114.79,-0.13,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:12.0,39.4,104.0,7.5:0,0,0,0:0,0,0,0:117,96,62,81:33,48,89,64:0,33,0,41:NM_020765.2(UBR4) c.3319A>G (p.Thr1107Ala),-:0.15,-:0.192911,- 1 19499588 . C . . NT END=19499674;NT GT ./. 1 19499801 . C . . NT END=19499932;NT GT ./. 1 19499835 rs951908 G C 144 nt VT=SNV;PN=T;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.2877,C/0.7123;Gene=UBR4/NM_020765.2/1;CC=c.3166-35C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:97:58:0:0:46,51:1513,1688:144.07,0.00:75.29,0.00:68.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,5.9:0,0:0,0:76,66:75,84:39,41:NM_020765.2(UBR4) c.3166-35C>G,-:0.72,-:0.666,- 1 19500116 . C . . NT END=19500812;NT GT ./. 1 19500328 rs870482 G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9155,A/0.08446;Gene=UBR4/NM_020765.2/1;CC=c.2983-213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:11:0:0:0:3,8:95,234:8.14,0.00:0.00,0.00:8.14,0.00:0.60,0.00:0.00,0.00:0.60,0.00:60,60:51.3,43.9:0,0:0,0:138,116:13,33:8,18:NM_020765.2(UBR4) c.2983-213C>T,-:0.11,-:NOT_FOUND,- 1 19500729 rs6694521 G A 89 nt VT=SNV;PN=G;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.2877,A/0.7123;Gene=UBR4/NM_020765.2/1;CC=c.2982+84C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:51:0:0:29,22:905,673:89.13,0.00:84.37,0.00:4.77,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:34.1,7.9:0,0:0,0:58,39:93,107:25,29:NM_020765.2(UBR4) c.2982+84C>T,-:0.72,-:NOT_FOUND,- 1 19500942 . C . . NT END=19501447;NT GT ./. 1 19501528 . C . . NT END=19503085;NT GT ./. 1 19503222 . C . . NT END=19503954;NT GT ./. 1 19504238 . C . . NT END=19505544;NT GT ./. 1 19505715 . C . . NT END=19510304;NT GT ./. 1 19510391 . C . . NT END=19510509;NT GT ./. 1 19510394 rs3762396 A G 81 nt VT=SNV;PN=T;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.2831,G/0.7169;PC=0.224;Gene=UBR4/NM_020765.2/1;CC=c.2099-4T>C;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:38:0:0:35,27:1066,863:0.00,80.74:0.00,50.55:0.00,30.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,42.7:0,0:0,0:93,102:58,48:47,35:-,NM_020765.2(UBR4) c.2099-4T>C:-,0.72:-,0.67169 1 19510670 . C . . NT END=19511592;NT GT ./. 1 19511781 . C . . NT END=19513033;NT GT ./. 1 19513152 . C . . NT END=19513657;NT GT ./. 1 19513570 rs72158799 TTA T 18 sb;idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=93;Gene=UBR4/NM_020765.2/1;CC=c.1632+86_1632+87delTA;VC=Intron;DM=UBR4/E3_UbLigase_R4;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:TTA,T:19:18:0:9:12,7:328,267:0.00,18.11:0.00,17.24:0.00,0.87:0.00,0.97:0.00,0.94:0.00,0.92:60,60:29.1,10.6:0,2:0,0:27,92:124,58:17,15:-,NM_020765.2(UBR4) c.1632+86_1632+87delTA:-,NOT_FOUND:-,NOT_FOUND 1 19513796 . C . . NT END=19513934;NT GT ./. 1 19514035 . C . . NT END=19518681;NT GT ./. 1 19518873 . C . . NT END=19518974;NT GT ./. 1 19519035 . C . . NT END=19519926;NT GT ./. 1 19519994 . C T 158 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=103;PC=1.000;Gene=UBR4/NM_020765.2/1;CC=c.1076G>A;ProtCh=p.R359Q;VC=Missense;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:103:71:0:0:55,48:1698,1662:0.00,158.25:0.00,79.67:0.00,78.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,43.4:0,0:0,0:87,76:60,72:37,31:-,NM_020765.2(UBR4) c.1076G>A (p.Arg359Gln):-,NOT_FOUND:-,NOT_FOUND 1 19520052 . C . . NT END=19523634;NT GT ./. 1 19520260 rs181963496 C T 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9912,T/0.008786;Gene=UBR4/NM_020765.2/1;CC=c.1019-209G>A;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:11:0:0:0:4,7:98,235:0.00,23.71:0.00,0.00:0.00,23.71:0.00,1.00:0.00,0.00:0.00,1.00:60,60:52.8,33.6:0,0:0,0:96,111:53,40:12,30:-,NM_020765.2(UBR4) c.1019-209G>A:-,0.01:-,NOT_FOUND 1 19523760 . C . . NT END=19524163;NT GT ./. 1 19523961 rs4912054 A G 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.9099,G/0.09006;PC=0.008;Gene=UBR4/NM_020765.2/1;CC=c.894-202T>C;VC=Intron;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:20:0:0:20,13:632,414:0.00,37.98:0.00,23.44:0.00,14.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,44.3:0,0:0,0:60,79:90,72:39,39:-,NM_020765.2(UBR4) c.894-202T>C:-,0.11:-,NOT_FOUND 1 19524306 . C . . NT END=19524440;NT GT ./. 1 19524544 . C . . NT END=19525034;NT GT ./. 1 19525175 . C . . NT END=19525292;NT GT ./. 1 19525423 . C . . NT END=19526144;NT GT ./. 1 19525585 rs841374 T C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3119,C/0.6881;Gene=UBR4/NM_020765.2/1;CC=c.379-163A>G;VC=Intron;DM=UBR4/E3_UbLigase_R4;DM=UBR4/E3_UbLigase_R4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:1:0:0:11,11:379,357:36.53,0.00:1.84,0.00:34.69,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:46.5,0.9:0,0:0,0:125,83:26,68:12,30:NM_020765.2(UBR4) c.379-163A>G,-:0.7,-:NOT_FOUND,- 1 19526249 . C . . NT END=19528211;NT GT ./. 1 19528310 . C . . NT END=19536566;NT GT ./. 1 19536743 . C . . NT END=19545796;NT GT ./. 1 19545977 . C . . NT END=19546062;NT GT ./. 1 19546193 . C . . NT END=19547257;NT GT ./. 1 19547343 . C . . NT END=19549117;NT GT ./. 1 19549329 . C . . NT END=19549889;NT GT ./. 1 19550064 . C . . NT END=19553806;NT GT ./. 1 19553945 . C . . NT END=19557337;NT GT ./. 1 19554099 rs7515397 T G 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3273,G/0.6727;Gene=EMC1/NM_001271427.1/0;CC=c.2062-155A>C;VC=Intron;Gene=EMC1/NM_001271428.1/0;CC=c.2062-155A>C;VC=Intron;Gene=EMC1/NM_001271429.1/0;CC=c.1999-155A>C;VC=Intron;Gene=EMC1/NM_015047.2/1;CC=c.2065-155A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:0:0:0:12,11:394,351:38.20,0.00:0.00,0.00:38.20,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:64.5,7.3:0,0:0,0:100,79:49,70:28,33:NM_015047.2(EMC1) c.2065-155A>C,-:0.69,-:NOT_FOUND,- 1 19557458 . C . . NT END=19557754;NT GT ./. 1 19557713 rs2275403 G C 103 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.3321,C/0.6679,T/.;Gene=EMC1/NM_001271427.1/0;CC=c.1941+42C>G;VC=Intron;Gene=EMC1/NM_001271428.1/0;CC=c.1941+42C>G;VC=Intron;Gene=EMC1/NM_001271429.1/0;CC=c.1878+42C>G;VC=Intron;Gene=EMC1/NM_015047.2/1;CC=c.1944+42C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:73:54:0:0:34,39:1085,1133:102.89,0.00:72.01,0.00:30.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.7,19.5:0,0:0,0:34,56:113,94:30,29:NM_015047.2(EMC1) c.1944+42C>G,-:0.67,-:0.625788,- 1 19557917 . C . . NT END=19559117;NT GT ./. 1 19559268 . C . . NT END=19559429;NT GT ./. 1 19559630 . C . . NT END=19560673;NT GT ./. 1 19560683 . C . . NT END=19561623;NT GT ./. 1 19561747 . C . . NT END=19563635;NT GT ./. 1 19563733 . C . . NT END=19564510;NT GT ./. 1 19564634 . C . . NT END=19565288;NT GT ./. 1 19565352 . C . . NT END=19565724;NT GT ./. 1 19565797 . C . . NT END=19566311;NT GT ./. 1 19566480 . C . . NT END=19566790;NT GT ./. 1 19566881 rs12084825 C T 190 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.9141,T/0.08586;PC=0.926;Gene=EMC1/NM_001271427.1/0;CC=c.696G>A;ProtCh=p.E232=;VC=Silent;Gene=EMC1/NM_001271428.1/0;CC=c.696G>A;ProtCh=p.E232=;VC=Silent;Gene=EMC1/NM_001271429.1/0;CC=c.630G>A;ProtCh=p.E210=;VC=Silent;Gene=EMC1/NM_015047.2/1;CC=c.696G>A;ProtCh=p.E232=;VC=Silent;DM=EMC1/PQQ_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:124:85:0:0:1,63,60:11,2108,1986:-0.12,0.00,190.20:-0.11,0.00,87.87:-0.00,0.00,102.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,6.9,38.2:0,0,0:0,0,0:47,76,88:104,72,60:0,41,21:-,NM_015047.2(EMC1) c.696G>A (p.(=)):-,0.11:-,0.144241 1 19566941 . C . . NT END=19567509;NT GT ./. 1 19567637 . C . . NT END=19568838;NT GT ./. 1 19568968 . C . . NT END=19570107;NT GT ./. 1 19570202 . C . . NT END=19570443;NT GT ./. 1 19570510 . C . . NT END=19571399;NT GT ./. 1 19571525 . C . . NT END=19577908;NT GT ./. 1 19578004 . G . . NT END=19578329;NT GT ./. 1 19578192 rs2294942 G A 88 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.3546,A/0.6454;Gene=MRTO4/NM_016183.3/1;CC=c.-138G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:39:0:0:31,22:894,686:88.43,0.00:66.71,0.00:21.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,14.8:0,0:0,0:71,50:80,100:42,34:NM_016183.3(MRTO4) c.-138G>A,-:0.64,-:NOT_FOUND,- 1 19578358 . G . . NT END=19581275;NT GT ./. 1 19581335 . G . . NT END=19582441;NT GT ./. 1 19581543 rs735025 G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3548,A/0.6452;Gene=MRTO4/NM_016183.3/1;CC=c.87+209G>A;VC=Intron;DM=MRTO4/Ribosomal_L10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:7:1:0:0:3,4:85,136:7.85,0.00:3.61,0.00:4.24,0.00:0.69,0.00:0.62,0.00:0.95,0.00:60,60:40.3,23.0:0,0:0,0:93,106:58,41:23,28:NM_016183.3(MRTO4) c.87+209G>A,-:0.64,-:NOT_FOUND,- 1 19582546 . G . . NT END=19583557;NT GT ./. 1 19582563 rs1557133 G A 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.101,A/0.899;Gene=MRTO4/NM_016183.3/1;CC=c.191+18G>A;VC=Intron;DM=MRTO4/Ribosomal_L10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:21:0:0:16,23:544,722:50.57,0.00:15.27,0.00:35.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.2,9.4:0,0:0,0:98,105:53,41:28,30:NM_016183.3(MRTO4) c.191+18G>A,-:0.9,-:0.865293,- 1 19583400 rs1774075 A G 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.01398,G/0.986;Gene=MRTO4/NM_016183.3/1;CC=c.192-158A>G;VC=Intron;DM=MRTO4/Ribosomal_L10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:312:36.43:36.43:0.00:1.00:1.00:0.00:60:38.1:0:0:27:124:20:NM_016183.3(MRTO4) c.192-158A>G,NM_016183.3(MRTO4) c.192-158A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 19583636 rs1126682 C T 95 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.864,T/0.136;PC=0.993;Gene=MRTO4/NM_016183.3/1;CC=c.270C>T;ProtCh=p.H90=;VC=Silent;DM=MRTO4/Ribosomal_L10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:46:0:0:35,30:1149,1003:0.00,95.13:0.00,52.18:0.00,42.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,48.6:0,0:0,0:94,81:54,64:25,27:-,NM_016183.3(MRTO4) c.270C>T (p.(=)):-,0.13:-,0.165155 1 19583640 . G . . NT END=19583947;NT GT ./. 1 19583734 rs4912057 G A 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.3546,A/0.6454;Gene=MRTO4/NM_016183.3/1;CC=c.273+95G>A;VC=Intron;DM=MRTO4/Ribosomal_L10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:8:0:0:18,14:600,384:59.19,0.00:17.20,0.00:41.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.3,26.3:0,0:0,0:95,79:55,71:40,33:NM_016183.3(MRTO4) c.273+95G>A,-:0.64,-:NOT_FOUND,- 1 19584016 . G . . NT END=19584326;NT GT ./. 1 19584035 rs11811927 G A 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.864,A/0.136;Gene=MRTO4/NM_016183.3/1;CC=c.341+20G>A;VC=Intron;DM=MRTO4/Ribosomal_L10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:33:0:0:29,31:972,989:92.98,0.00:25.50,0.00:67.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.8,9.0:0,0:0,0:107,108:35,39:25,23:NM_016183.3(MRTO4) c.341+20G>A,-:0.13,-:0.165078,- 1 19584479 . G . . NT END=19584970;NT GT ./. 1 19585048 . G . . NT END=19585174;NT GT ./. 1 19585325 . A . . NT END=19587014;NT GT ./. 1 19585545 rs761305 G A 12 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.08407,A/0.9159;Gene=MRTO4/NM_016183.3/1;CC=c.*221G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G:8:0:0:0:4,4:124,109:11.91,0.00:0.00,0.00:11.91,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:71.8,17.8:0,0:0,0:146,124:2,26:1,10:NM_016183.3(MRTO4) c.*221G>A,-:0.91,-:NOT_FOUND,- 1 19586967 rs4912058 G A 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.1012,A/0.8988;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:46:0:0:21,27:696,853:65.34,0.00:51.72,0.00:13.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,9.5:0,0:0,0:65,48:86,103:44,28:chr1 g.19586966G>A (intergenic),-:0.9,-:NOT_FOUND,- 1 19587164 rs4912059 T G 174 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.08506,G/0.9149;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:102:62:0:0:1,53,48:11,1788,1516:-0.08,173.74,0.00:0.06,79.29,0.00:-0.14,94.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:121.0,41.4,9.0:0,0,0:0,0,0:11,87,81:140,62,65:0,25,29:chr1 g.19587163T>G (intergenic),-:0.91,-:NOT_FOUND,- 1 19587228 . C . . NT END=19588675;NT GT ./. 1 19588562 rs761304 A T 71 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.1248,T/0.8752 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:46:0:0:22,24:728,734:0.00,70.98:0.00,69.82:0.00,1.16:0.00,1.00:0.00,1.00:0.00,0.97:60,60:5.7,52.3:0,0:0,0:64,69:85,73:27,27:-,chr1 g.19588561A>T (intergenic):-,0.87:-,NOT_FOUND 1 19588802 . C . . NT END=19588918;NT GT ./. 1 19588931 . C . . NT END=19609224;NT GT ./. 1 19589204 rs1546909 A G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1248,G/0.8752 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,G:5:0:0:0:2,3:47,86:0.00,8.59:0.00,0.00:0.00,8.59:0.00,0.78:0.00,0.00:0.00,0.78:60,60:88.0,64.3:0,0:0,0:67,61:84,90:1,5:-,chr1 g.19589203A>G (intergenic):-,0.87:-,NOT_FOUND 1 19594893 rs35257918 CA C 18 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=AKR7L/NR_040288.1/0;VC=NonCoding;Gene=AKR7L/NR_040289.1/0;VC=NonCoding;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:CA,I,C:15:16:1:7:8,1,6:255,34,232:0.00,2.45,18.47:0.00,2.45,18.47:0.00,0.00,0.00:0.00,0.00,0.95:0.00,0.00,0.95:0.00,0.00,0.00:60,60,60:36.8,23.0,29.5:0,0,1:0,0,0:99,38,44:34,112,107:38,0,32:-,NR_040288.1(AKR7L) n.834+172delT:-,NOT_FOUND:-,NOT_FOUND 1 19595137 rs2235795 C T 121 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.3349,T/0.6651;Gene=AKR7L/NR_040288.1/0;VC=NonCoding;Gene=AKR7L/NR_040289.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:44:0:0:36,38:1141,1251:0.00,120.96:0.00,47.12:0.00,73.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,36.7:0,0:0,0:118,91:26,59:16,25:-,NR_040288.1(AKR7L) n.763G>A:-,0.66:-,0.588344 1 19595892 rs6665423 G A 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.3339,A/0.6661;Gene=AKR7L/NR_040288.1/0;VC=NonCoding;Gene=AKR7L/NR_040289.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:35:0:0:30,33:1013,998:96.77,0.00:28.05,0.00:68.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,11.2:0,0:0,0:113,104:33,43:20,32:NR_040288.1(AKR7L) n.605-27C>T,-:0.66,-:0.594612,- 1 19596124 rs2235794 C T 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.3351,T/0.6649;PC=1.000;Gene=AKR7L/NR_040288.1/0;VC=NonCoding;Gene=AKR7L/NR_040289.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:34:0:0:37,19:1243,595:0.00,52.97:0.00,25.37:0.00,27.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,68.5:0,0:0,0:68,63:59,84:38,24:-,NR_040288.1(AKR7L) n.557G>A:-,0.66:-,0.593955 1 19596156 rs6665756 G T 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.3341,T/0.6659;PC=1.000;Gene=AKR7L/NR_040288.1/0;VC=NonCoding;Gene=AKR7L/NR_040289.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:54:30:0:0:35,19:1162,618:0.00,55.66:0.00,20.56:0.00,35.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,66.6:0,0:0,0:87,87:60,56:30,23:-,NR_040288.1(AKR7L) n.525C>A:-,0.66:-,0.594612 1 19596841 rs7536049 G A 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.1312,A/0.8688;PC=0.001;Gene=AKR7L/NR_040288.1/0;VC=NonCoding;Gene=AKR7L/NR_040289.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:33:33:0:0:16,16,1:430,498,10:40.90,0.00,0.04:39.07,0.00,0.04:1.83,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.66,0.00,0.00:60,60,60:30.9,9.4,22.0:0,0,0:0,0,0:48,62,30:103,89,120:35,25,0:NR_040288.1(AKR7L) n.507+104C>T,-:0.86,-:NOT_FOUND,- 1 19609254 rs1738025 T C 346 lc VT=SNV;PN=G;NN=A;SST=Single;DP=204;DB;DBA=NA;PAF=T/0.1685,C/0.8315;PC=1.000;Gene=AKR7A3/NM_012067.2/1;CC=c.967A>G;ProtCh=p.T323A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:204:166:0:0:1,106,1,96:14,3562,11,3009:-0.08,346.00,-0.14,0.00:-0.01,218.77,-0.07,0.00:-0.07,127.23,-0.07,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:57,60,60,60:45.0,40.4,77.0,7.6:0,0,0,0:0,0,0,0:29,59,115,42:122,88,35,107:0,31,0,25:NM_012067.2(AKR7A3) c.967A>G (p.Thr323Ala),-:0.81,-:0.797322,- 1 19609387 . C . . NT END=19610489;NT GT ./. 1 19609522 rs140599506 G A 95 nt VT=SNV;PN=G;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=1060;Gene=AKR7A3/NM_012067.2/1;CC=c.835-136C>T;VC=Intron;DM=AKR7A3/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:2:0:0:33,24:961,804:94.89,0.00:1.13,0.00:93.76,0.00:1.00,0.00:0.85,0.00:1.00,0.00:51,60:48.8,2.7:0,0:0,0:112,118:38,33:26,18:NM_012067.2(AKR7A3) c.835-136C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 19610620 . C . . NT END=19611179;NT GT ./. 1 19611227 rs1065658 G A 147 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.8532,A/0.1468;Gene=AKR7A3/NM_012067.2/1;CC=c.657C>T;ProtCh=p.P219=;VC=Silent;DM=AKR7A3/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:71:0:0:46,43:1523,1300:147.45,0.00:85.00,0.00:62.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.8,33.2:0,0:0,0:61,59:84,85:27,29:NM_012067.2(AKR7A3) c.657C>T (p.(=)),-:0.12,-:0.165872,- 1 19611241 rs1738023 T C 332 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.1923,C/0.8077;PC=1.000;Gene=AKR7A3/NM_012067.2/1;CC=c.643A>G;ProtCh=p.N215D;VC=Missense;DM=AKR7A3/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:88:64:0:0:88:2902:332.14:169.58:162.56:1.00:1.00:1.00:60:54.8:0:0:70:72:31:NM_012067.2(AKR7A3) c.643A>G (p.Asn215Asp),NM_012067.2(AKR7A3) c.643A>G (p.Asn215Asp):0.8,0.8:0.773657,0.773657 1 19611280 . C . . NT END=19611511;NT GT ./. 1 19611410 rs1968022 C G 155 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.001;Gene=AKR7A3/NM_012067.2/1;CC=c.604+102G>C;VC=Intron;DM=AKR7A3/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G,T:43:29:0:0:42,1:1351,15:154.65,0.49:102.11,0.49:52.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,15.0:0,0:0,0:83,9:67,142:45,0:NM_012067.2(AKR7A3) c.604+102G>C,NM_012067.2(AKR7A3) c.604+102G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 19611609 . C . . NT END=19612381;NT GT ./. 1 19612249 rs9660883 G A 71 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.0603,A/0.9397;Gene=AKR7A3/NM_012067.2/1;CC=c.507+133C>T;VC=Intron;DM=AKR7A3/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:20:0:0:20:618:71.33:71.33:0.00:1.00:1.00:0.00:60:39.3:0:0:43:108:30:NM_012067.2(AKR7A3) c.507+133C>T,NM_012067.2(AKR7A3) c.507+133C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 19612477 rs2231198 C T 137 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.5367,T/0.4633;PC=1.000;Gene=AKR7A3/NM_012067.2/1;CC=c.412G>A;ProtCh=p.V138M;VC=Missense;DM=AKR7A3/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:62:0:0:58,44:1808,1463:0.00,137.03:0.00,67.71:0.00,69.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,43.1:0,0:0,0:97,85:45,60:21,35:-,NM_012067.2(AKR7A3) c.412G>A (p.Val138Met):-,0.49:-,0.363441 1 19612487 . C . . NT END=19612678;NT GT ./. 1 19612867 . C . . NT END=19614989;NT GT ./. 1 19615204 . G . . NT END=19630718;NT GT ./. 1 19630881 . C . . NT END=19632511;NT GT ./. 1 19632332 rs3828102 T C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.5375,C/0.4625;PC=0.002;Gene=AKR7A2/NM_003689.3/1;CC=c.918+180A>G;VC=Intron;DM=AKR7A2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:10,10:339,332:32.65,0.00:32.65,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.0,1.1:0,0:0,0:35,58:115,90:24,14:NM_003689.3(AKR7A2) c.918+180A>G,-:0.51,-:NOT_FOUND,- 1 19632642 . C . . NT END=19633495;NT GT ./. 1 19633596 . C . . NT END=19633807;NT GT ./. 1 19633905 . C . . NT END=19634651;NT GT ./. 1 19634757 . C . . NT END=19634948;NT GT ./. 1 19635137 . C . . NT END=19638320;NT GT ./. 1 19638309 rs2227295 A G 166 nt VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.2899,G/0.7101;Gene=AKR7A2/NM_003689.3/1;CC=c.298+12T>C;VC=Intron;DM=AKR7A2/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:123:101:0:0:65,58:2170,1756:0.00,166.32:0.00,113.90:0.00,52.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,34.8:0,0:0,0:42,50:105,97:25,27:-,NM_003689.3(AKR7A2) c.298+12T>C:-,0.7:-,0.765047 1 19638583 rs115704389 G T 251 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.9852,T/0.01478;Gene=AKR7A2/NM_003689.3/1;CC=c.36C>A;ProtCh=p.A12=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:152:84:0:0:71,81:2254,2584:0.00,251.36:0.00,99.03:0.00,152.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,37.7:0,0:0,0:65,73:78,74:26,32:-,NM_003689.3(AKR7A2) c.36C>A (p.(=)):-,0.03:-,NOT_FOUND 1 19638619 . A . . NT END=19639656;NT GT ./. 1 19638883 rs2473808 T C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3133,C/0.6867;Gene=PQLC2/NM_001040125.1/0;CC=c.-579T>C;VC=5UTR;Gene=PQLC2/NM_001040126.1/0;CC=c.-193+31T>C;VC=Intron;Gene=PQLC2/NM_001287531.1/0;CC=c.-300+31T>C;VC=Intron;Gene=PQLC2/NM_017765.2/1;CC=c.-240+31T>C;VC=Intron;Gene=PQLC2/NR_109848.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:8:2:0:0:5,3:170,98:17.09,0.00:3.77,0.00:13.31,0.00:0.97,0.00:0.88,0.00:0.97,0.00:60,60:35.8,5.0:0,0:0,0:77,136:71,15:29,11:NM_001040125.1(PQLC2) c.-579T>C,-:0.67,-:NOT_FOUND,- 1 19639696 . G . . NT END=19644093;NT GT ./. 1 19644336 . G . . NT END=19651126;NT GT ./. 1 19651257 . G . . NT END=19651988;NT GT ./. 1 19652077 . G . . NT END=19652738;NT GT ./. 1 19652131 rs66513267 GT G 9 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GT/0.8041,G/0.1959;NP=223;Gene=PQLC2/NM_001040125.1/0;CC=c.382+56delT;VC=Intron;Gene=PQLC2/NM_001040126.1/0;CC=c.187+56delT;VC=Intron;Gene=PQLC2/NM_001287531.1/0;CC=c.49+56delT;VC=Intron;Gene=PQLC2/NM_017765.2/1;CC=c.382+56delT;VC=Intron;Gene=PQLC2/NR_109848.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:GT,G:8:3:0:3:5,3:146,94:0.00,8.54:0.00,2.84:0.00,5.70:0.00,0.67:0.00,0.78:0.00,0.93:60,60:38.4,3.0:0,0:0,0:122,58:5,90:24,10:-,NM_001040125.1(PQLC2) c.382+56delT:-,0.94:-,0.956465 1 19652132 rs214315 T G 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PQLC2/NM_001040125.1/0;CC=c.382+56T>G;VC=Intron;Gene=PQLC2/NM_001040126.1/0;CC=c.187+56T>G;VC=Intron;Gene=PQLC2/NM_001287531.1/0;CC=c.49+56T>G;VC=Intron;Gene=PQLC2/NM_017765.2/1;CC=c.382+56T>G;VC=Intron;Gene=PQLC2/NR_109848.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:2:0:3:5:161:18.48:5.72:12.77:1.00:1.00:1.00:60:38.4:0:0:123:4:24:NM_001040125.1(PQLC2) c.382+56T>G,NM_001040125.1(PQLC2) c.382+56T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 19652874 rs41264079 G A 179 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.9505,A/0.04952;PC=0.006;Gene=PQLC2/NM_001040125.1/0;CC=c.518G>A;ProtCh=p.G173D;VC=Missense;Gene=PQLC2/NM_001040126.1/0;CC=c.323G>A;ProtCh=p.G108D;VC=Missense;Gene=PQLC2/NM_001287531.1/0;CC=c.185G>A;ProtCh=p.G62D;VC=Missense;Gene=PQLC2/NM_017765.2/1;CC=c.518G>A;ProtCh=p.G173D;VC=Missense;Gene=PQLC2/NR_109848.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:141:97:0:0:60,2,79:1912,20,2653:178.53,-0.21,0.00:83.96,-0.06,0.00:94.57,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,113.0,6.5:0,0,0:0,0,0:90,103,74:51,44,68:36,9,30:NM_001040125.1(PQLC2) c.518G>A (p.Gly173Asp),-:0.06,-:0.079668,- 1 19652882 . G . . NT END=19653024;NT GT ./. 1 19653118 . G . . NT END=19653720;NT GT ./. 1 19653907 . G . . NT END=19655065;NT GT ./. 1 19655138 . C . . NT END=19666023;NT GT ./. 1 19666112 . C . . NT END=19669245;NT GT ./. 1 19669359 . C . . NT END=19670851;NT GT ./. 1 19670929 . C . . NT END=19671680;NT GT ./. 1 19671747 . C . . NT END=19683128;NT GT ./. 1 19683246 . C . . NT END=19683915;NT GT ./. 1 19683301 rs169957 G T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5222,T/0.4778;Gene=CAPZB/NM_001282162.1/0;CC=c.559-56C>A;VC=Intron;Gene=CAPZB/NM_001206540.2/1;CC=c.472-56C>A;VC=Intron;Gene=CAPZB/NM_001206541.2/0;CC=c.550-56C>A;VC=Intron;Gene=CAPZB/NM_004930.4/0;CC=c.472-56C>A;VC=Intron;DM=CAPZB/F_actin_cap_B;DM=CAPZB/F_actin_cap_B;DM=CAPZB/F_actin_cap_B;DM=CAPZB/F_actin_cap_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:13:0:0:23,18:686,549:0.00,51.27:0.00,3.49:0.00,47.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,49.4:0,0:0,0:133,101:18,50:12,25:-,NM_001206540.1(CAPZB) c.472-56C>A:-,0.5:-,NOT_FOUND 1 19683757 rs3042969 A AATCTT 35 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5222,AATCTT/0.4778;NP=15;PC=0.137;Gene=CAPZB/NM_001282162.1/0;CC=c.558+158_558+159insAAGAT;VC=Intron;Gene=CAPZB/NM_001206540.2/1;CC=c.471+158_471+159insAAGAT;VC=Intron;Gene=CAPZB/NM_001206541.2/0;CC=c.549+158_549+159insAAGAT;VC=Intron;Gene=CAPZB/NM_004930.4/0;CC=c.471+158_471+159insAAGAT;VC=Intron;DM=CAPZB/F_actin_cap_B;DM=CAPZB/F_actin_cap_B;DM=CAPZB/F_actin_cap_B;DM=CAPZB/F_actin_cap_B;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:A,AATCTT:17:16:11:0:6,11:184,350:0.00,35.47:0.00,35.93:0.00,-0.45:0.00,1.00:0.00,1.00:0.00,0.76:60,60:20.5,4.4:0,0:0,0:96,59:52,89:33,26:-,NM_001206540.1(CAPZB) c.471+158_471+159insAAGAT:-,0.5:-,NOT_FOUND 1 19684058 . C . . NT END=19705033;NT GT ./. 1 19705148 . C . . NT END=19711998;NT GT ./. 1 19712121 . C . . NT END=19746154;NT GT ./. 1 19746245 . C . . NT END=19775327;NT GT ./. 1 19746332 rs41264091 A T 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8744,T/0.1256;Gene=CAPZB/NM_001282162.1/0;CC=c.91-88T>A;VC=Intron;Gene=CAPZB/NM_001206540.2/1;CC=c.4-88T>A;VC=Intron;Gene=CAPZB/NM_001206541.2/0;CC=c.82-88T>A;VC=Intron;Gene=CAPZB/NM_004930.4/0;CC=c.4-88T>A;VC=Intron;Gene=CAPZB/NM_001313932/0;CC=c.4-88T>A;VC=Intron;DM=CAPZB/F_actin_cap_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,T:14:1:0:0:3,11:96,343:0.00,36.35:0.00,-0.33:0.00,36.68:0.00,1.00:0.00,0.86:0.00,1.00:60,60:8.0,37.4:0,0:0,0:143,113:7,38:4,19:-,NM_001206540.1(CAPZB) c.4-88T>A:-,0.11:-,NOT_FOUND 1 19775306 rs41307876 T A 89 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.9986,A/0.001398;NP=8;PC=0.026;Gene=CAPZB/NM_001282162.1/0;CC=c.91-29062A>T;VC=Intron;Gene=CAPZB/NM_001206540.2/1;CC=c.4-29062A>T;VC=Intron;Gene=CAPZB/NM_001206541.2/0;CC=c.81+22A>T;VC=Intron;Gene=CAPZB/NM_004930.4/0;CC=c.4-29062A>T;VC=Intron;Gene=CAPZB/NM_001313932/0;CC=c.4-29062A>T;VC=Intron;DM=CAPZB/F_actin_cap_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:65:60:0:0:28,37:952,1246:89.26,0.00:69.21,0.00:20.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,6.5:0,0:0,0:68,52:82,98:24,28:NM_001206540.1(CAPZB) c.4-29062A>T,-:NOT_FOUND,-:0.00157,- 1 19775566 rs1546264 G A 269 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=G/0.8149,A/0.1851;PC=0.998;Gene=CAPZB/NM_001282162.1/0;CC=c.91-29322C>T;VC=Intron;Gene=CAPZB/NM_001206540.2/1;CC=c.4-29322C>T;VC=Intron;Gene=CAPZB/NM_001206541.2/0;CC=c.-158C>T;VC=5UTR;Gene=CAPZB/NM_004930.4/0;CC=c.4-29322C>T;VC=Intron;Gene=CAPZB/NM_001313932/0;CC=c.4-29322C>T;VC=Intron;DM=CAPZB/F_actin_cap_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:150:96:0:0:84,66:2737,2081:268.97,0.00:130.53,0.00:138.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,6.9:0,0:0,0:73,74:77,74:32,35:NM_001206540.1(CAPZB) c.4-29322C>T,-:0.17,-:NOT_FOUND,- 1 19775825 . C . . NT END=19810683;NT GT ./. 1 19796235 . TAC T,TACACAC 7 idl,nt VT=INS;SST=Single;DP=4;NP=2;DM=CAPZB/F_actin_cap_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:30:TACACAC,T:3:4:3:1:2,1:101,34:7.05,3.28:7.05,3.28:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:28.0,34.0:1,0:0,0:43,95:108,56:29,0:NM_001206540.1(CAPZB) c.3+15693_3+15694delGT,NM_001206540.1(CAPZB) c.3+15693GT[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 19811202 . T . . NT END=19811929;NT GT ./. 1 19811933 . G . . NT END=19923539;NT GT ./. 1 19828258 rs150039533 TTGTG T 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TTGTG/0.2873,T/0.7127;DB;DBA=NA;PAF=TTGTG/0.2873,T/0.7127;NP=60;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:4:3:131:10.76:3.60:7.15:0.85:0.99:0.99:60:10.0:1:0:66:52:35:chr1 g.19828259_19828262delTGTG (intergenic),chr1 g.19828259_19828262delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 19923313 rs4912130 T A 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8053,A/0.1947 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,T:11:11:0:0:4,7:120,201:10.78,0.00:10.78,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:37.0,26.9:0,0:0,0:85,51:65,100:33,33:NM_001204083.1(MINOS1) c.-69-u158T>A,-:0.2,-:NOT_FOUND,- 1 19923604 . G . . NT END=19927374;NT GT ./. 1 19927198 rs840266 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8075,C/0.1925;Gene=MINOS1/NM_001032363.3/0;CC=c.64+3595T>C;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.64+3595T>C;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.64+3595T>C;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.-162-83T>C;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+3595T>C;VC=Intron;DM=MINOS1/DUF543 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:6,9:210,283:19.48,0.00:19.48,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:38.5,0.0:0,0:0,0:55,79:95,72:42,19:NM_001204083.1(MINOS1) c.64+3595T>C,-:0.17,-:NOT_FOUND,- 1 19927466 . G . . NT END=19943751;NT GT ./. 1 19927553 rs860847 C A 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.8073,A/0.1927;Gene=MINOS1/NM_001032363.3/0;CC=c.64+3950C>A;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.64+3950C>A;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.64+3950C>A;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+88C>A;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+3950C>A;VC=Intron;DM=MINOS1/DUF543 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:34:6:0:0:12,22:386,671:34.72,0.00:6.18,0.00:28.54,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:43.9,4.3:0,0:0,0:131,106:19,44:12,25:NM_001204083.1(MINOS1) c.64+3950C>A,-:0.17,-:NOT_FOUND,- 1 19934724 rs61740467 C T 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.9493,T/0.05072;PC=0.887;Gene=MINOS1/NM_001032363.3/0;CC=c.64+11121C>T;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.64+11121C>T;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.64+11121C>T;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+7259C>T;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+11121C>T;VC=Intron;Gene=RPS14P3/NR_077246.1/0;VC=NonCoding;DM=MINOS1/DUF543 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:27:0:0:26,16:835,514:0.00,46.93:0.00,33.15:0.00,13.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,37.2:0,0:0,0:58,74:90,74:27,31:-,NM_001204083.1(MINOS1) c.64+11121C>T:-,0.05:-,NOT_FOUND 1 19935118 rs138778783 T TA 7 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8027,TA/0.1973;NP=1005;PC=0.018;Gene=MINOS1/NM_001032363.3/0;CC=c.64+11522_64+11523insA;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.64+11522_64+11523insA;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.64+11522_64+11523insA;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+7660_23+7661insA;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+11522_-20+11523insA;VC=Intron;Gene=RPS14P3/NR_077246.1/0;VC=NonCoding;DM=MINOS1/DUF543;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:T,TA:7:0:3:0:4,3:105,78:0.00,7.17:0.00,0.00:0.00,7.17:0.00,0.69:0.00,0.00:0.00,0.69:60,60:23.0,23.0:0,0:0,0:91,122:58,29:4,4:-,NM_001204083.1(MINOS1) c.64+11515_64+11516insA:-,0.21:-,NOT_FOUND 1 19943821 rs58374984 CACAG C 38 PASS VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=CACAG/0.9655,C/0.03454;NP=102;PC=0.003;Gene=MINOS1/NM_001032363.3/0;CC=c.65-4772_65-4769delACAG;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.65-6146_65-6143delACAG;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.65-4772_65-4769delACAG;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+16357_23+16360delACAG;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+20219_-20+20222delACAG;VC=Intron;DM=MINOS1/DUF543;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CACAG,C:40:20:0:14:26,14:892,428:0.00,38.23:0.00,10.10:0.00,28.13:0.00,1.00:0.00,0.97:0.00,1.00:60,60:5.2,10.2:0,0:0,0:106,111:28,39:26,22:-,NM_001204083.1(MINOS1) c.65-4772_65-4769delACAG:-,0.03:-,NOT_FOUND 1 19943831 . G . . NT END=19948593;NT GT ./. 1 19944067 rs1320981 G C 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8063,A/.,C/0.1937;Gene=MINOS1/NM_001032363.3/0;CC=c.65-4527G>C;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.65-5901G>C;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.65-4527G>C;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+16602G>C;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+20464G>C;VC=Intron;DM=MINOS1/DUF543 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,G:6:0:0:0:4,2:118,66:12.03,0.00:0.00,0.00:12.03,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:32.0,27.5:0,0:0,0:78,112:71,38:33,2:NM_001204083.1(MINOS1) c.65-4527G>C,-:0.17,-:NOT_FOUND,- 1 19948507 rs728611 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6538,G/0.3462;Gene=MINOS1/NM_001032363.3/0;CC=c.65-87A>G;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.65-1461A>G;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.65-87A>G;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+21042A>G;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+24904A>G;VC=Intron;DM=MINOS1/DUF543 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:15:15:0:0:10,5:321,179:0.00,16.14:0.00,12.72:0.00,3.42:0.00,0.89:0.00,0.89:0.00,0.81:60,60:4.0,35.8:0,0:0,0:49,66:102,85:15,19:-,NM_001204083.1(MINOS1) c.65-87A>G:-,0.32:-,NOT_FOUND 1 19948642 . G . . NT END=19949967;NT GT ./. 1 19949667 rs114844231 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9481,T/0.05192;PC=0.005;Gene=MINOS1/NM_001032363.3/0;CC=c.113-301C>T;VC=Intron;Gene=MINOS1/NM_001204082.1/0;CC=c.65-301C>T;VC=Intron;Gene=MINOS1/NM_001204083.1/1;CC=c.113-301C>T;VC=Intron;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+22202C>T;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+26064C>T;VC=Intron;DM=MINOS1/DUF543 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:5:5:0:0:2,3:68,99:0.00,9.87:0.00,9.87:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:5.5,33.0:0,0:0,0:72,33:78,117:38,33:-,NM_001204083.1(MINOS1) c.113-301C>T:-,0.05:-,NOT_FOUND 1 19950062 rs1737428 T C 62 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6544,C/0.3456;PC=1.000;Gene=MINOS1/NM_001032363.3/0;CC=c.207T>C;ProtCh=p.H69=;VC=Silent;Gene=MINOS1/NM_001204082.1/0;CC=c.159T>C;ProtCh=p.H53=;VC=Silent;Gene=MINOS1/NM_001204083.1/1;CC=c.207T>C;ProtCh=p.H69=;VC=Silent;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+22597T>C;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-20+26459T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:24:0:0:20,16:633,534:62.08,0.00:23.92,0.00:38.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,9.3:0,0:0,0:101,84:46,58:14,22:NM_001204083.1(MINOS1) c.207T>C (p.(=)),-:0.32,-:0.35399,- 1 19950078 . G . . NT END=19951885;NT GT ./. 1 19952127 . G . . NT END=19952880;NT GT ./. 1 19952896 . C . . NT END=19969805;NT GT ./. 1 19953118 rs1534985 G T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.009984,T/0.99;PC=0.992;Gene=MINOS1/NM_001032363.3/0;CC=c.*223G>T;VC=3UTR;Gene=MINOS1/NM_001204082.1/0;CC=c.*223G>T;VC=3UTR;Gene=MINOS1/NM_001204083.1/1;CC=c.*278G>T;VC=3UTR;Gene=MINOS1/NR_033757.2/0;VC=NonCoding;Gene=MINOS1/NR_033758.2/0;VC=NonCoding;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.23+25653G>T;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-19-28387G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:T:9:0:0:0:9:203:24.40:0.00:24.40:1.00:0.00:1.00:60:49.1:0:0:43:106:40:NM_001204083.1(MINOS1) c.*278G>T,NM_001204083.1(MINOS1) c.*278G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 19969531 rs2854100 T C 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1062,C/0.8938;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.24-11974T>C;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-19-11974T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:78.0:0:0:28:122:11:NM_001204088.1(C1orf151-NBL1) c.24-11974T>C,NM_001204088.1(C1orf151-NBL1) c.24-11974T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 19969611 rs2854102 A G 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.007588,G/0.9924;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.24-11894A>G;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-19-11894A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:280:31.82:29.78:2.04:1.00:1.00:1.00:60:64.4:0:0:69:81:39:NM_001204088.1(C1orf151-NBL1) c.24-11894A>G,NM_001204088.1(C1orf151-NBL1) c.24-11894A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 19969892 . G . . NT END=19969902;NT GT ./. 1 19970120 . G . . NT END=19970207;NT GT ./. 1 19970449 . G . . NT END=19970666;NT GT ./. 1 19970941 . G . . NT END=19971865;NT GT ./. 1 19972025 . G . . NT END=19972259;NT GT ./. 1 19972330 rs79540600 G A 186 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.9497,A/0.05032;PC=1.000;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.24-9175G>A;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-19-9175G>A;VC=Intron;Gene=NBL1/NM_001278164.1/0;CC=c.-20+2458G>A;VC=Intron;Gene=NBL1/NM_182744.3/1;CC=c.86+2439G>A;VC=Intron;Gene=NBL1/NM_001278165.1/0;CC=c.-20+2211G>A;VC=Intron;Gene=NBL1/NM_001204084.2/0;CC=c.-20+1882G>A;VC=Intron;Gene=NBL1/NM_005380.7/0;CC=c.-20+1390G>A;VC=Intron;Gene=NBL1/NM_001204085.1/0;CC=c.-20+306G>A;VC=Intron;Gene=NBL1/NM_001204086.2/0;CC=c.-115G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:117:73:0:0:61,56:1924,1884:186.27,0.00:78.04,0.00:108.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,10.0:0,0:0,0:89,97:61,52:38,32:NM_001204088.1(C1orf151-NBL1) c.24-9175G>A,-:0.05,-:NOT_FOUND,- 1 19972528 . G . . NT END=19974103;NT GT ./. 1 19974165 . G . . NT END=19981504;NT GT ./. 1 19974214 rs10917507 C T 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.8167,T/0.1833;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.24-7291C>T;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-19-7291C>T;VC=Intron;Gene=NBL1/NM_001278164.1/0;CC=c.-20+4342C>T;VC=Intron;Gene=NBL1/NM_182744.3/1;CC=c.86+4323C>T;VC=Intron;Gene=NBL1/NM_001278165.1/0;CC=c.-20+4095C>T;VC=Intron;Gene=NBL1/NM_001204084.2/0;CC=c.-20+3766C>T;VC=Intron;Gene=NBL1/NM_005380.7/0;CC=c.-20+3274C>T;VC=Intron;Gene=NBL1/NM_001204085.1/0;CC=c.-20+2190C>T;VC=Intron;Gene=NBL1/NM_001204086.2/0;CC=c.83+1687C>T;VC=Intron;Gene=NBL1/NM_001278166.1/0;CC=c.-20+50C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:36:10:0:0:1,15,20:13,456,637:0.22,0.00,62.85:-0.03,0.00,11.45:0.25,0.00,51.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,70,60:50.0,3.6,40.1:0,0,0:0,0,0:18,111,121:133,40,28:0,29,13:-,NM_001204088.1(C1orf151-NBL1) c.24-7291C>T:-,0.2:-,NOT_FOUND 1 19981451 rs3828101 A G 201 nt VT=SNV;PN=T;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=A/0.5671,G/0.4329;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.24-54A>G;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.-19-54A>G;VC=Intron;Gene=NBL1/NM_001278164.1/0;CC=c.-19-54A>G;VC=Intron;Gene=NBL1/NM_182744.3/1;CC=c.87-54A>G;VC=Intron;Gene=NBL1/NM_001278165.1/0;CC=c.-19-54A>G;VC=Intron;Gene=NBL1/NM_001204084.2/0;CC=c.-19-54A>G;VC=Intron;Gene=NBL1/NM_005380.7/0;CC=c.-19-54A>G;VC=Intron;Gene=NBL1/NM_001204085.1/0;CC=c.-19-54A>G;VC=Intron;Gene=NBL1/NM_001204086.2/0;CC=c.84-54A>G;VC=Intron;Gene=NBL1/NM_001278166.1/0;CC=c.-19-54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:127:115:0:0:64,63:1922,2092:0.00,201.09:0.00,143.65:0.00,57.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,38.3:0,0:0,0:48,58:99,91:31,41:-,NM_001204088.1(C1orf151-NBL1) c.24-54A>G:-,0.44:-,NOT_FOUND 1 19981694 . G . . NT END=19981816;NT GT ./. 1 19981791 rs2294630 A G 217 nt VT=SNV;PN=C;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=A/0.5441,G/0.4559;Gene=MINOS1-NBL1/NM_001204088.1/1;CC=c.213-26A>G;VC=Intron;Gene=MINOS1-NBL1/NM_001204089.1/0;CC=c.171-26A>G;VC=Intron;Gene=NBL1/NM_001278164.1/0;CC=c.171-26A>G;VC=Intron;Gene=NBL1/NM_182744.3/1;CC=c.276-26A>G;VC=Intron;Gene=NBL1/NM_001278165.1/0;CC=c.171-26A>G;VC=Intron;Gene=NBL1/NM_001204084.2/0;CC=c.171-26A>G;VC=Intron;Gene=NBL1/NM_005380.7/0;CC=c.171-26A>G;VC=Intron;Gene=NBL1/NM_001204085.1/0;CC=c.171-26A>G;VC=Intron;Gene=NBL1/NM_001204086.2/0;CC=c.273-26A>G;VC=Intron;Gene=NBL1/NM_001278166.1/0;CC=c.171-26A>G;VC=Intron;DM=MINOS1-NBL1/DAN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:143:80:0:0:70,73:2325,2249:0.00,216.56:0.00,78.49:0.00,138.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,44.3:0,0:0,0:58,50:90,96:40,35:-,NM_001204088.1(C1orf151-NBL1) c.213-26A>G:-,0.46:-,0.541289 1 19981929 . G . . NT END=19983358;NT GT ./. 1 19983623 . G . . NT END=19992246;NT GT ./. 1 19992066 rs10917509 T C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5617,C/0.4383;Gene=HTR6/NM_000871.2/1;CC=c.-181T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,T:11:11:0:0:3,8:98,242:8.44,0.00:8.44,0.00:0.00,0.00:0.60,0.00:0.60,0.00:0.00,0.00:60,60:75.3,27.8:0,0:0,0:29,32:122,117:3,15:NM_000871.1(HTR6) c.=,-:0.45,-:NOT_FOUND,- 1 19992961 . G . . NT END=20005059;NT GT ./. 1 20005219 . G . . NT END=20005411;NT GT ./. 1 20005862 . C . . NT END=20009531;NT GT ./. 1 20009938 . C . . NT END=20020925;NT GT ./. 1 20020993 rs4370779 A G 185 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.3399,G/0.6601;Gene=TMCO4/NM_181719.4/1;CC=c.1434T>C;ProtCh=p.R478=;VC=Silent;DM=TMCO4/DUF726 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:77:0:0:47,57:1552,1892:0.00,185.29:0.00,93.64:0.00,91.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,69.5:0,0:0,0:75,73:72,64:24,28:-,NM_181719.4(TMCO4) c.1434T>C (p.(=)):-,0.63:-,0.72751 1 20020994 rs4515815 C T 185 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=C/0.5699,T/0.4301;PC=0.057;Gene=TMCO4/NM_181719.4/1;CC=c.1433G>A;ProtCh=p.R478H;VC=Missense;DM=TMCO4/DUF726 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:104:77:0:0:47,57:1539,1894:0.00,185.49:0.00,94.34:0.00,91.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,69.5:0,0:0,0:76,74:71,63:25,28:-,NM_181719.4(TMCO4) c.1433G>A (p.Arg478His):-,0.37:-,0.512686 1 20021045 . C . . NT END=20027259;NT GT ./. 1 20027034 rs71704175 ATCT A 11 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=405;Gene=TMCO4/NM_181719.4/1;CC=c.1382+224_1382+226delAGA;VC=Intron;DM=TMCO4/DUF726;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:ATCT,A:6:6:0:4:2,4:67,106:0.00,10.84:0.00,10.84:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:38.0,27.5:0,0:0,0:56,27:94,123:51,4:-,NM_181719.4(TMCO4) c.1382+224_1382+226delAGA:-,0.37:-,NOT_FOUND 1 20027049 rs10917520 A C 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4565,C/0.5435;Gene=TMCO4/NM_181719.4/1;CC=c.1382+212T>G;VC=Intron;DM=TMCO4/DUF726 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,C:9:9:0:0:5,4:142,129:0.00,12.13:0.00,12.13:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:22.0,42.2:0,0:0,0:39,14:111,136:9,6:-,NM_181719.4(TMCO4) c.1382+212T>G:-,0.55:-,NOT_FOUND 1 20027379 . C . . NT END=20063863;NT GT ./. 1 20063950 . C . . NT END=20066315;NT GT ./. 1 20066133 rs1266444 T C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.5092,C/0.4908;Gene=TMCO4/NM_181719.4/1;CC=c.1179+184A>G;VC=Intron;DM=TMCO4/DUF726 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:7,13:234,413:21.12,0.00:21.12,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:35.0,3.2:0,0:0,0:43,74:108,77:20,26:NM_181719.4(TMCO4) c.1179+184A>G,-:0.49,-:NOT_FOUND,- 1 20066454 . C . . NT END=20067268;NT GT ./. 1 20067435 . C . . NT END=20072023;NT GT ./. 1 20072145 . C . . NT END=20072947;NT GT ./. 1 20073093 . C . . NT END=20073654;NT GT ./. 1 20073754 . C . . NT END=20082125;NT GT ./. 1 20082260 . C . . NT END=20097033;NT GT ./. 1 20096866 rs61768327 G T 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9121,T/0.08786;PC=0.001;Gene=TMCO4/NM_181719.4/1;CC=c.382+169C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:G,T:15:15:0:0:6,9:182,257:0.00,25.58:0.00,25.58:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:22.0,34.7:0,0:0,0:33,109:114,42:14,29:-,NM_181719.4(TMCO4) c.382+169C>A:-,0.09:-,NOT_FOUND 1 20097063 . C . . NT END=20097799;NT GT ./. 1 20097608 rs61768329 C A 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9443,A/0.05571;PC=0.001;Gene=TMCO4/NM_181719.4/1;CC=c.354+193G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,C:11:11:0:0:7,4:224,142:22.61,0.00:22.61,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:89.7,43.8:0,0:0,0:28,50:123,100:16,16:NM_181719.4(TMCO4) c.354+193G>T,-:0.07,-:NOT_FOUND,- 1 20097611 rs1266436 G A 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.06849,A/0.9315;Gene=TMCO4/NM_181719.4/1;CC=c.354+190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:408:46.52:46.52:0.00:1.00:1.00:0.00:60:69.5:0:0:32:118:21:NM_181719.4(TMCO4) c.354+190C>T,NM_181719.4(TMCO4) c.354+190C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 20097622 rs112151521 T TAAGTC 26 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9121,TAAGTC/0.08786;Gene=TMCO4/NM_181719.4/1;CC=c.354+178_354+179insGACTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:T,TAAGTC:13:13:8:0:5,8:163,260:0.00,26.05:0.00,26.05:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.8,82.4:0,0:0,0:61,40:89,110:33,18:-,NM_181719.4(TMCO4) c.354+178_354+179insGACTT:-,0.09:-,NOT_FOUND 1 20097822 rs11551819 G A 215 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=140;DB;DBA=NA;PAF=G/0.9121,A/0.08786;Gene=TMCO4/NM_181719.4/1;CC=c.333C>T;ProtCh=p.D111=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:140:117:0:0:68,72:2248,2243:215.18,0.00:142.79,0.00:72.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,4.4:0,0:0,0:62,61:83,86:37,26:NM_181719.4(TMCO4) c.333C>T (p.(=)),-:0.09,-:0.127249,- 1 20097941 rs10917536 G T 215 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.621,T/0.379;PC=1.000;Gene=TMCO4/NM_181719.4/1;CC=c.214C>A;ProtCh=p.Q72K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:139:79:0:0:1,67,71:10,2303,2224:-0.13,0.00,214.60:-0.09,0.00,85.30:-0.05,0.00,129.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:106.0,4.2,50.5:0,0,0:0,0,0:29,87,84:122,52,62:0,27,29:-,NM_181719.4(TMCO4) c.214C>A (p.Gln72Lys):-,0.37:-,0.366523 1 20097976 . C . . NT END=20107071;NT GT ./. 1 20098066 rs41310424 A G 68 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.9121,G/0.08786;Gene=TMCO4/NM_181719.4/1;CC=c.180-91T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:53:3:0:0:28,24,1:948,722,11:0.00,68.02,-0.02:0.00,-0.39,-0.01:0.00,68.42,-0.01:0.00,1.00,0.00:0.00,0.85,0.00:0.00,1.00,0.00:60,60,60:2.8,77.9,62.0:0,0,0:0,0,0:82,101,70:68,49,80:35,19,0:-,NM_181719.4(TMCO4) c.180-91T>C:-,0.09:-,NOT_FOUND 1 20098079 rs41312010 C A 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.9123,A/0.08766;PC=0.002;Gene=TMCO4/NM_181719.4/1;CC=c.180-104G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:47:1:0:0:23,24:675,793:64.23,0.00:-0.15,0.00:64.37,0.00:1.00,0.00:0.66,0.00:1.00,0.00:60,60:78.3,3.2:0,0:0,0:108,88:43,62:23,28:NM_181719.4(TMCO4) c.180-104G>T,-:0.09,-:NOT_FOUND,- 1 20098142 rs61768331 A G 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.9121,G/0.08786;PC=0.001;Gene=TMCO4/NM_181719.4/1;CC=c.180-167T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:0:0:0:13,7:414,239:0.00,21.62:0.00,0.00:0.00,21.62:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.2,85.9:0,0:0,0:123,122:28,29:15,10:-,NM_181719.4(TMCO4) c.180-167T>C:-,0.09:-,NOT_FOUND 1 20107252 . T . . NT END=20140910;NT GT ./. 1 20141595 . T . . NT END=20208781;NT GT ./. 1 20208783 rs72658579 T C 136 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.8431,C/0.1569 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:91:86:0:0:44,47:1421,1511:135.70,0.00:103.42,0.00:32.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,14.4:0,0:0,0:56,56:93,91:25,22:NM_015207.1(OTUD3) c.-119-u105T>C,-:0.19,-:NOT_FOUND,- 1 20209228 . G . . NT END=20216877;NT GT ./. 1 20209469 rs12124726 A C 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7342,C/0.2658;Gene=OTUD3/NM_015207.1/1;CC=c.221+242A>C;VC=Intron;DM=OTUD3/OTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,C:8:0:0:0:1,7:24,220:0.00,24.03:0.00,0.00:0.00,24.03:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,44.0:0,0:0,0:45,93:106,58:0,35:-,NM_015207.1(OTUD3) c.221+242A>C:-,0.29:-,NOT_FOUND 1 20216623 rs10733026 G A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.007188,A/0.9928;NP=735;Gene=OTUD3/NM_015207.1/1;CC=c.222-255G>A;VC=Intron;DM=OTUD3/OTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:5:0:0:5:130:15.29:15.29:0.00:1.00:1.00:0.00:60:61.2:0:0:40:111:24:NM_015207.1(OTUD3) c.222-255G>A,NM_015207.1(OTUD3) c.222-255G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 20216860 rs10799593 G A 108 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.5459,A/0.4541,T/.;Gene=OTUD3/NM_015207.1/1;CC=c.222-18G>A;VC=Intron;DM=OTUD3/OTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:75:0:0:36,45:1153,1312:108.33,0.00:76.10,0.00:32.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,7.2:0,0:0,0:58,39:81,108:32,31:NM_015207.1(OTUD3) c.222-18G>A,-:0.47,-:0.548003,- 1 20217027 . G . . NT END=20220860;NT GT ./. 1 20220974 . G . . NT END=20224032;NT GT ./. 1 20224156 . G . . NT END=20230759;NT GT ./. 1 20224440 rs535971585 C CT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=33;PC=0.005;Gene=OTUD3/NM_015207.1/1;CC=c.606+299_606+300insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,CT:7:1:4:0:3,4:56,122:0.00,12.06:0.00,3.53:0.00,8.53:0.00,0.90:0.00,0.71:0.00,0.99:60,60:12.0,15.0:0,0:0,0:109,83:42,66:19,16:-,NM_015207.1(OTUD3) c.606+285_606+286insT:-,NOT_FOUND:-,NOT_FOUND 1 20230892 . G . . NT END=20231383;NT GT ./. 1 20231481 . G . . NT END=20232924;NT GT ./. 1 20233110 . G . . NT END=20234062;NT GT ./. 1 20234240 . C . . NT END=20246799;NT GT ./. 1 20246943 . C . . NT END=20248790;NT GT ./. 1 20248645 . C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;NP=1;Gene=PLA2G2E/NM_014589.2/1;CC=c.286+146G>A;VC=Intron;DM=PLA2G2E/Phospholip_A2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:13:13:0:0:3,10:94,317:0.00,33.42:0.00,31.49:0.00,1.93:0.00,1.00:0.00,1.00:0.00,0.85:60,60:78.3,34.0:0,0:0,0:38,30:111,120:10,17:-,NM_014589.1(PLA2G2E) c.286+146G>A:-,NOT_FOUND:-,NOT_FOUND 1 20248898 . C . . NT END=20249109;NT GT ./. 1 20249249 . C . . NT END=20250012;NT GT ./. 1 20250053 . C . . NT END=20302193;NT GT ./. 1 20271002 rs564214269 TTGTG T 8 sb;idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TTGTG/0.05531,T/0.9447;DB;DBA=NA;PAF=TTGTG/0.05531,T/0.9447;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:TTGTG,I,T:6:7:1:5:2,1,3:68,31,151:0.00,2.56,8.44:0.00,1.25,6.77:0.00,1.31,1.67:0.00,0.00,0.67:0.00,0.00,0.95:0.00,0.00,0.93:60,60,60:109.0,13.0,61.7:0,0,2:0,0,0:79,96,39:59,39,109:8,0,5:-,chr1 g.20271003_20271006delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 20271047 rs201999207 T A 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1542,A/0.8458;DB;DBA=NA;PAF=NA;NP=380;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:4:0:0:8:232:26.93:9.34:17.60:1.00:1.00:1.00:60:53.1:0:0:81:64:13:chr1 g.20271046T>A (intergenic),chr1 g.20271046T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 20271056 rs55781208 G GAGAT 21 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.01198,GAGAGAT/.,GAGAT/0.988;DB;DBA=NA;PAF=NA;NP=451;NP=6;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T,GAGAT:7:3:6:0:1,6:10,185:0.67,20.95:0.67,4.31:0.00,16.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:183.0,32.8:0,0:0,0:125,90:25,60:0,13:chr1 g.20271056_20271057insAGAT (intergenic),chr1 g.20271056_20271057insAGAT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 20302337 . C . . NT END=20304507;NT GT ./. 1 20304615 . C . . NT END=20304872;NT GT ./. 1 20305018 . C . . NT END=20305226;NT GT ./. 1 20305065 rs10732279 C T 326 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.1657,T/0.8343;Gene=PLA2G2A/NM_001161729.1/0;CC=c.41-48G>A;VC=Intron;Gene=PLA2G2A/NM_000300.3/1;CC=c.41-48G>A;VC=Intron;Gene=PLA2G2A/NM_001161727.1/0;CC=c.41-48G>A;VC=Intron;Gene=PLA2G2A/NM_001161728.1/0;CC=c.41-48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:87:36:0:0:87:2848:326.24:91.92:234.31:1.00:1.00:1.00:60:39.5:0:0:103:46:25:NM_000300.3(PLA2G2A) c.41-48G>A,NM_000300.3(PLA2G2A) c.41-48G>A:0.83,0.83:0.779948,0.779948 1 20305267 . G . . NT END=20395442;NT GT ./. 1 20395401 rs11573185 C A 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.6002,A/0.3998,G/.,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:38:35:0:0:16,22:498,684:46.18,0.00:30.29,0.00:15.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,6.1:0,0:0,0:78,54:72,97:37,17:NM_000929.2(PLA2G5) c.-268-u1300C>A,-:0.43,-:NOT_FOUND,- 1 20395526 . g . . NT END=20396700;NT GT ./. 1 20396415 rs11573191 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7997,A/0.2003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:A,G:5:5:0:0:3,2:103,41:10.28,0.00:10.28,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:96.3,9.5:0,0:0,0:40,6:110,144:7,4:NM_000929.2(PLA2G5) c.-268-u286G>A,-:0.19,-:NOT_FOUND,- 1 20396959 . G . . NT END=20411313;NT GT ./. 1 20397157 rs576352 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4509,C/0.5491;Gene=PLA2G5/NM_000929.2/1;CC=c.-11+199T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:15:0:0:0:3,12:86,360:6.78,0.00:0.00,0.00:6.78,0.00:0.55,0.00:0.00,0.00:0.55,0.00:60,60:63.3,19.1:0,0:0,0:67,102:82,48:26,32:NM_000929.2(PLA2G5) c.-11+199T>C,-:0.58,-:NOT_FOUND,- 1 20397240 rs656110 G A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4515,A/0.5485;PC=0.021;Gene=PLA2G5/NM_000929.2/1;CC=c.-11+282G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:10:0:0:0:3,7:87,189:7.48,0.00:0.00,0.00:7.48,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:41.0,6.7:0,0:0,0:59,86:92,65:58,33:NM_000929.2(PLA2G5) c.-11+282G>A,-:0.58,-:NOT_FOUND,- 1 20411300 rs563374221 G GT 9 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=25;PC=0.998;Gene=PLA2G5/NM_000929.2/1;CC=c.-10-5dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:G,GT:37:30:4:0:33,4:1101,125:0.00,8.92:0.00,8.08:0.00,0.83:0.00,0.60:0.00,0.91:0.00,0.79:60,60:14.0,26.5:0,0:0,0:64,32:87,93:28,13:-,NM_000929.2(PLA2G5) c.-10-14_-10-13insT:-,NOT_FOUND:-,NOT_FOUND 1 20411364 . G . . NT END=20412575;NT GT ./. 1 20412721 . G . . NT END=20416281;NT GT ./. 1 20416389 . G . . NT END=20417060;NT GT ./. 1 20416878 rs565503 C G 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.142,G/0.858;Gene=PLA2G5/NM_000929.2/1;CC=c.293-183C>G;VC=Intron;DM=PLA2G5/Phospholip_A2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:293:33.59:33.59:0.00:1.00:1.00:0.00:60:38.9:0:0:25:126:3:NM_000929.2(PLA2G5) c.293-183C>G,NM_000929.2(PLA2G5) c.293-183C>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 20417186 . G . . NT END=20440606;NT GT ./. 1 20440753 . C . . NT END=20441999;NT GT ./. 1 20442107 . C . . NT END=20442825;NT GT ./. 1 20442691 rs3736979 C T 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5489,T/0.4511;Gene=PLA2G2D/NM_001271814.1/0;CC=c.185+135G>A;VC=Intron;Gene=PLA2G2D/NM_012400.3/1;CC=c.185+135G>A;VC=Intron;DM=PLA2G2D/Phospholip_A2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:7,14:228,449:0.00,45.77:0.00,43.87:0.00,1.90:0.00,1.00:0.00,1.00:0.00,0.78:60,60:0.0,52.9:0,0:0,0:54,46:97,105:18,35:-,NM_012400.2(PLA2G2D) c.185+135G>A:-,0.48:-,NOT_FOUND 1 20442971 . C . . NT END=20445951;NT GT ./. 1 20445992 . G . . NT END=20465920;NT GT ./. 1 20446170 rs397979474 GT G 41 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=924;PC=0.006;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:GT,G:14:0:0:13:2,12:57,377:0.00,40.93:0.00,0.00:0.00,40.93:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,10.9:0,0:0,0:149,97:1,46:0,38:-,NM_012400.2(PLA2G2D) c.-17-u163delA:-,0.99:-,NOT_FOUND 1 20466037 . G . . NT END=20466658;NT GT ./. 1 20466712 . G . . NT END=20469938;NT GT ./. 1 20470084 . G . . NT END=20471072;NT GT ./. 1 20471183 . G . . NT END=20474682;NT GT ./. 1 20474895 . A . . NT END=20490483;NT GT ./. 1 20490518 rs6426616 T C 213 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.3401,C/0.6599;PC=0.988;Gene=PLA2G2C/NM_001316722/0;CC=c.410A>G;ProtCh=p.Q137R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:C:60:43:0:0:60:1848:213.22:107.38:105.84:1.00:1.00:1.00:60:34.2:0:0:79:71:35:NM_001105572.1(PLA2G2C) c.419A>G (p.Gln140Arg),NM_001105572.1(PLA2G2C) c.419A>G (p.Gln140Arg):0.66,0.66:0.636356,0.636356 1 20490651 . C . . NT END=20499286;NT GT ./. 1 20499168 rs2301475 T C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5779,C/0.4221;Gene=PLA2G2C/NM_001316722/0;CC=c.277+119A>G;VC=Intron;DM=PLA2G2C/Phospholip_A2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,T:8:8:0:0:7,1:232,32:25.23,0.00:25.23,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.9,46.0:0,0:0,0:61,53:89,98:42,0:NM_001105572.1(PLA2G2C) c.286+119A>G,-:0.4,-:NOT_FOUND,- 1 20499385 . C . . NT END=20501499;NT GT ./. 1 20501442 rs10916718 T C 113 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.5984,C/0.4016;Gene=PLA2G2C/NM_001316722/0;CC=c.179+58A>G;VC=Intron;DM=PLA2G2C/Phospholip_A2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:29:0:0:31:983:112.93:101.50:11.43:1.00:1.00:1.00:60:39.6:0:0:54:93:21:NM_001105572.1(PLA2G2C) c.188+58A>G,NM_001105572.1(PLA2G2C) c.188+58A>G:0.45,0.45:NOT_FOUND,NOT_FOUND 1 20501688 . G . . NT END=20517054;NT GT ./. 1 20510690 rs5772887 G GCA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.7404,GCACA/0.2596,GCACACA/.,GCACACACA/.;NP=1;NP=1;NP=1;NP=26;NP=5;NP=70;PC=0.001;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:G,GCA,D:5:6:4:1:1,3,1:32,132,6:0.00,10.03,0.29:0.00,6.60,0.14:0.00,3.43,0.14:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.51,0.00:60,60,6:0.0,36.0,0.0:0,1,0:0,0,0:108,52,109:32,68,36:0,13,0:-,NM_152376.3(UBXN10) c.-84-u1888_-84-u1887insCA:-,NOT_FOUND:-,NOT_FOUND 1 20517898 . G . . NT END=20637094;NT GT ./. 1 20637234 . G . . NT END=20639328;NT GT ./. 1 20637374 rs10916761 T C 56 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.2161,C/0.7839;Gene=VWA5B1/NM_001039500.2/1;CC=c.139+141T>C;VC=Intron;DM=VWA5B1/VIT_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:1:0:0:17,18:581,592:55.68,0.00:1.88,0.00:53.80,0.00:1.00,0.00:0.66,0.00:1.00,0.00:60,60:39.0,8.2:0,0:0,0:116,90:35,60:22,21:NM_001039500.2(VWA5B1) c.139+141T>C,-:0.8,-:NOT_FOUND,- 1 20639482 . G . . NT END=20640814;NT GT ./. 1 20641086 . G . . NT END=20644022;NT GT ./. 1 20643944 rs4654851 G C 92 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.723,C/0.277;Gene=VWA5B1/NM_001039500.2/1;CC=c.564-79G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:56:51:0:0:29,27:948,830:91.79,0.00:70.79,0.00:21.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,7.3:0,0:0,0:19,38:125,112:11,24:NM_001039500.2(VWA5B1) c.564-79G>C,-:0.29,-:NOT_FOUND,- 1 20644169 . G . . NT END=20645082;NT GT ./. 1 20645215 . G . . NT END=20645874;NT GT ./. 1 20646000 . G . . NT END=20649848;NT GT ./. 1 20650026 . G . . NT END=20654382;NT GT ./. 1 20654494 . G . . NT END=20656672;NT GT ./. 1 20656876 . G . . NT END=20657361;NT GT ./. 1 20657477 . G . . NT END=20659258;NT GT ./. 1 20658972 . C CAAAAT 6 rn VT=INS;SST=Single;DP=4;NP=3;PC=0.114;Gene=VWA5B1/NM_001039500.2/1;CC=c.1573-217_1573-216insAAAAT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CAAAAT:4:4:2:0:2,2:70,66:0.00,6.35:0.00,6.35:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,0.0:0,0:0,0:73,43:77,108:39,0:-,NM_001039500.2(VWA5B1) c.1573-287_1573-286insAAAAT:-,NOT_FOUND:-,NOT_FOUND 1 20659445 . G . . NT END=20662795;NT GT ./. 1 20662980 . G . . NT END=20664138;NT GT ./. 1 20664330 . G . . NT END=20668924;NT GT ./. 1 20669103 . G . . NT END=20669571;NT GT ./. 1 20669887 . G . . NT END=20671948;NT GT ./. 1 20672087 . G . . NT END=20674737;NT GT ./. 1 20674852 . G . . NT END=20676648;NT GT ./. 1 20676724 . G . . NT END=20677349;NT GT ./. 1 20677420 . G . . NT END=20678547;NT GT ./. 1 20678666 . G . . NT END=20680249;NT GT ./. 1 20680757 . T . . NT END=20810141;NT GT ./. 1 20810213 . C . . NT END=20811706;NT GT ./. 1 20811873 . G . . NT END=20827182;NT GT ./. 1 20827913 . C . . NT END=20828561;NT GT ./. 1 20828683 . C . . NT END=20829714;NT GT ./. 1 20828726 rs79865810 C T 97 nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.9898,T/0.01018;Gene=MUL1/NM_024544.2/1;CC=c.209-44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:18:0:0:40,33:1221,1031:0.00,96.99:0.00,16.31:0.00,80.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,35.3:0,0:0,0:96,95:51,54:28,29:-,NM_024544.2(MUL1) c.209-44G>A:-,0.02:-,0.020529 1 20829560 rs2641114 G A 40 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5393,A/0.4607;Gene=MUL1/NM_024544.2/1;CC=c.208+155C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:348:40.03:40.03:0.00:1.00:1.00:0.00:60:34.5:0:0:20:131:16:NM_024544.2(MUL1) c.208+155C>T,NM_024544.2(MUL1) c.208+155C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 20829803 . C . . NT END=20834397;NT GT ./. 1 20834518 . G . . NT END=20879466;NT GT ./. 1 20834610 rs6700034 C A 94 nt VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.9519,A/0.04812,G/.,T/.;Gene=MUL1/NM_024544.2/1;CC=c.-93G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:80:30:0:0:36,44:1011,1416:94.26,0.00:21.23,0.00:73.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.2,6.5:0,1:0,0:112,103:34,46:23,25:NM_024544.2(MUL1) c.-93G>T,-:0.06,-:NOT_FOUND,- 1 20834780 rs16824064 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9904,A/0.009585;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:5:0:0:0:3,2:104,64:10.37,0.00:0.00,0.00:10.37,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:45.7,0.0:0,0:0,0:96,138:55,12:53,11:NM_024544.2(MUL1) c.-157-u106C>T,-:0.02,-:NOT_FOUND,- 1 20880457 . G . . NT END=20915622;NT GT ./. 1 20915418 rs603412 C G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.761,G/0.239 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,G,T:14:14:0:0:8,5,1:260,139,11:0.00,12.50,0.28:0.00,12.50,0.28:0.00,0.00,0.00:0.00,0.90,0.00:0.00,0.90,0.00:0.00,0.00,0.00:60,60,60:20.2,87.0,69.0:0,0,0:0,0,0:32,46,136:118,104,14:22,31,0:-,NM_001785.2(CDA) c.-179-u26C>G:-,0.27:-,NOT_FOUND 1 20915531 rs602950 A G 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.8113,G/0.1887;PC=0.030;Gene=CDA/NM_001785.2/1;CC=c.-92A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:40:38:0:0:21,1,18:656,8,616:0.00,-0.09,58.50:0.00,-0.07,52.04:0.00,-0.03,6.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,70:3.6,34.0,47.1:0,0,0:0,0,0:43,141,31:108,8,119:35,0,22:-,NM_001785.2(CDA) c.-92A>G:-,0.21:-,NOT_FOUND 1 20915589 rs397721610 TC T 77 nt VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=TC/0.4595,T/0.5405;DB;DBA=NA;PAF=TC/0.4595,T/0.5405;NP=2577;PC=0.002;Gene=CDA/NM_001785.2/1;CC=c.-31delC;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:68:57:0:27:41,27:1295,835:0.00,76.55:0.00,58.78:0.00,17.77:0.00,1.00:0.00,1.00:0.00,1.00:60,70:2.6,38.4:0,0:0,0:44,60:103,90:22,27:-,NM_001785.2(CDA) c.-33C[2]:-,0.54:-,0.583466 1 20915701 rs2072671 A C 142 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.8073,C/0.1927;PC=1.000;Gene=CDA/NM_001785.2/1;CC=c.79A>C;ProtCh=p.K27Q;VC=Missense;DM=CDA/dCMP_cyt_deam_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:97:61:0:0:52,45:1536,1500:0.00,142.44:0.00,82.84:0.00,59.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,38.5:0,0:0,0:84,73:62,75:36,30:-,NM_001785.2(CDA) c.79A>C (p.Lys27Gln):-,0.21:-,0.264032 1 20915777 . G . . NT END=20931420;NT GT ./. 1 20931533 . G . . NT END=20940334;NT GT ./. 1 20940258 rs488991 T A 75 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.02516,A/0.9748;Gene=CDA/NM_001785.2/1;CC=c.267-77T>A;VC=Intron;DM=CDA/dCMP_cyt_deam_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:22:0:0:23:640:74.79:59.92:14.87:1.00:1.00:1.00:60:52.0:0:0:38:109:31:NM_001785.2(CDA) c.267-77T>A,NM_001785.2(CDA) c.267-77T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 20940393 . G . . NT END=20944944;NT GT ./. 1 20944889 rs77158575 G A 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6885,A/0.3115;Gene=CDA/NM_001785.2/1;CC=c.325-56G>A;VC=Intron;DM=CDA/dCMP_cyt_deam_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:33:0:0:19,19:638,611:61.43,0.00:47.19,0.00:14.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:102.5,2.9:0,0:0,0:38,33:112,117:23,22:NM_001785.2(CDA) c.325-56G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 20944909 rs61781969 G A 79 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.6885,A/0.3115;Gene=CDA/NM_001785.2/1;CC=c.325-36G>A;VC=Intron;DM=CDA/dCMP_cyt_deam_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:37:0:0:24,21:807,626:78.76,0.00:54.85,0.00:23.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.1,11.2:0,0:0,0:45,51:104,100:24,20:NM_001785.2(CDA) c.325-36G>A,-:0.32,-:0.342717,- 1 20944922 rs61781970 C T 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.6885,G/.,T/0.3115;Gene=CDA/NM_001785.2/1;CC=c.325-23C>T;VC=Intron;DM=CDA/dCMP_cyt_deam_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:38:0:0:20,28:654,905:0.00,89.65:0.00,59.40:0.00,30.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,91.8:0,0:0,0:62,51:86,99:28,28:-,NM_001785.2(CDA) c.325-23C>T:-,0.32:-,0.342101 1 20945055 rs1048977 C T 75 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6889,T/0.3111;PC=0.004;Gene=CDA/NM_001785.2/1;CC=c.435C>T;ProtCh=p.T145=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:45:22:0:0:19,1,25:610,6,759:0.00,-0.11,74.68:0.00,0.02,22.49:0.00,-0.14,52.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,9,60:3.7,158.0,48.8:0,0,0:0,0,0:101,114,105:50,21,41:31,0,26:-,NM_001785.2(CDA) c.435C>T (p.(=)):-,0.31:-,0.342304 1 20945062 . C . . NT END=20960041;NT GT ./. 1 20960230 rs45530340 C T 308 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=209;DB;DBA=NA;PAF=C/0.8714,T/0.1286;PC=0.148;Gene=PINK1/NM_032409.2/1;CC=c.189C>T;ProtCh=p.L63=;VC=Silent;Gene=MIR6084/NR_106732.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:209:128:0:0:104,105:3306,3209:0.00,307.92:0.00,155.52:0.00,152.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,41.2:0,0:0,0:68,82:79,69:31,36:-,NM_032409.2(PINK1) c.189C>T (p.(=)):-,0.13:-,0.121555 1 20960385 rs148871409 A T 259 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=164;DB;DBA=NA;PAF=A/0.9852,C/.,T/0.01478;PC=1.000;Gene=PINK1/NM_032409.2/1;CC=c.344A>T;ProtCh=p.Q115L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:164:77:0:0:76,3,85:2524,45,2669:0.00,1.01,258.93:0.00,-0.18,111.66:0.00,1.19,147.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.7,206.3,43.1:0,0,0:0,0,0:86,15,87:58,131,56:25,5,31:-,NM_032409.2(PINK1) c.344A>T (p.Gln115Leu):-,0.02:-,0.032644 1 20960429 . G . . NT END=20964334;NT GT ./. 1 20960448 rs368222506 A G 121 nt VT=SNV;PN=T;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=PINK1/NM_032409.2/1;CC=c.387+20A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:85:34:0:0:47,38:1346,1279:0.00,120.74:0.00,26.02:0.00,94.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.4,48.7:0,0:0,0:108,120:35,27:19,19:-,NM_032409.2(PINK1) c.387+20A>G:-,NOT_FOUND:-,0.001331 1 20960497 . T G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;Gene=PINK1/NM_032409.2/1;CC=c.387+69T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:G,T:37:12:0:0:8,29:117,740:7.19,0.00:-1.00,0.00:8.19,0.00:0.98,0.00:0.91,0.00:1.00,0.00:60,60:112.2,51.7:0,0:0,0:88,127:35,21:38,18:NM_032409.2(PINK1) c.387+69T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 20964270 rs2298297 C G 94 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.8696,A/.,G/0.1304;Gene=PINK1/NM_032409.2/1;CC=c.388-65C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:61:56:0:0:28,33:899,971:0.00,94.46:0.00,71.68:0.00,22.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.8,41.5:0,0:0,0:34,33:117,118:25,18:-,NM_032409.2(PINK1) c.388-65C>G:-,0.15:-,NOT_FOUND 1 20964328 rs2298298 A G 118 nt VT=SNV;PN=C;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.1781,G/0.8219;Gene=PINK1/NM_032409.2/1;CC=c.388-7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:86:72:0:0:45,41:1442,1246:0.00,118.23:0.00,75.37:0.00,42.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.0,38.7:0,0:0,0:71,59:78,91:26,20:-,NM_032409.2(PINK1) c.388-7A>G:-,0.83:-,0.84338 1 20964623 . G . . NT END=20966384;NT GT ./. 1 20966486 . G . . NT END=20970982;NT GT ./. 1 20971166 . G . . NT END=20972052;NT GT ./. 1 20971911 rs56125389 G C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8878,C/0.1122;PC=0.001;Gene=PINK1/NM_032409.2/1;CC=c.960-142G>C;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:16:0:0:7,9:236,300:22.18,0.00:22.18,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:46.4,16.6:0,0:0,0:52,63:87,87:17,14:NM_032409.2(PINK1) c.960-142G>C,-:0.12,-:NOT_FOUND,- 1 20971980 rs67160805 C CA 27 idl,rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.5126,CA/0.4874,CAA/.,CAAA/.,CAAAA/.,CAAAAA/.;DB;DBA=NA;PAF=C/0.5126,CA/0.4874,CAAA/.;DB;DBA=NA;PAF=NA;NP=2;NP=9;PC=0.002;Gene=PINK1/NM_032409.2/1;CC=c.960-56_960-55insA;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:30:38:15:6:18,9,3:559,475,156:0.00,26.66,6.69:0.00,26.84,5.40:0.00,-0.18,1.28:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.67,0.00:60,60,60:41.6,69.6,36.0:0,6,2:0,0,0:41,61,8:93,90,107:26,28,4:-,NM_032409.2(PINK1) c.960-73_960-72insA:-,NOT_FOUND:-,NOT_FOUND 1 20972048 rs3131713 G A 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.1793,A/0.8207;Gene=PINK1/NM_032409.2/1;CC=c.960-5G>A;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:74:0:0:39,48:1193,1497:111.91,0.00:80.32,0.00:31.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,11.2:0,0:0,0:44,45:103,100:22,20:NM_032409.2(PINK1) c.960-5G>A,-:0.83,-:0.844226,- 1 20972217 . G . . NT END=20974997;NT GT ./. 1 20972304 rs67251778 GGTTTTGTGTTCTAA G 28 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=GGTTTTGTGTTCTAA/0.8848,G/0.1152;DB;DBA=NA;PAF=GGTTTTGTGTTCTAA/0.8848,G/0.1152;NP=352;PC=0.001;Gene=PINK1/NM_032409.2/1;CC=c.1123+91_1123+104delTTTGTGTTCTAAGT;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GGTTTTGTGTTCTAA,G:47:4:0:11:1,35,11:20,1054,341:0.54,0.00,28.37:-0.02,0.00,-0.29:0.56,0.00,28.66:0.00,0.00,1.00:0.00,0.00,0.66:0.00,0.00,1.00:60,60,60:180.0,14.1,50.8:0,0,0:0,0,0:129,111,77:22,40,72:0,25,21:-,NM_032409.2(PINK1) c.1123+89_1123+102delGTTTTGTGTTCTAA:-,0.12:-,NOT_FOUND 1 20972340 rs3131714 G A 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.5286,A/0.4714;Gene=PINK1/NM_032409.2/1;CC=c.1123+124G>A;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:0:0:0:15,20:460,618:42.79,0.00:0.00,0.00:42.79,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.0,20.9:0,0:0,0:96,116:55,34:18,19:NM_032409.2(PINK1) c.1123+124G>A,-:0.51,-:NOT_FOUND,- 1 20972373 rs55928190 CG C 16 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=CG/0.8852,C/0.1148;DB;DBA=NA;PAF=CG/0.8852,C/0.1148;NP=108;Gene=PINK1/NM_032409.2/1;CC=c.1123+161delG;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:CG,C:22:0:0:6:16,6:443,185:0.00,15.77:0.00,0.00:0.00,15.77:0.00,0.93:0.00,0.00:0.00,0.93:60,60:34.1,45.2:2,0:0,0:131,111:18,40:15,11:-,NM_032409.2(PINK1) c.1123+158delG:-,0.12:-,NOT_FOUND 1 20972377 rs79548430 G T 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.007;Gene=PINK1/NM_032409.2/1;CC=c.1123+161G>T;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:G,T:19:0:0:1:16,3:495,95:0.00,7.34:0.00,0.00:0.00,7.34:0.00,0.51:0.00,0.00:0.00,0.51:60,60:33.1,64.7:7,0:0,0:116,142:34,9:20,6:-,NM_032409.2(PINK1) c.1123+161G>T:-,NOT_FOUND:-,NOT_FOUND 1 20974802 rs2298299 A G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.885,G/0.115;Gene=PINK1/NM_032409.2/1;CC=c.1124-196A>G;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:10:10:0:0:4,6:121,196:0.00,19.54:0.00,19.54:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.0,78.0:0,0:0,0:86,26:64,124:28,14:-,NM_032409.2(PINK1) c.1124-196A>G:-,0.12:-,NOT_FOUND 1 20975126 . G . . NT END=20975487;NT GT ./. 1 20975725 . G . . NT END=20976926;NT GT ./. 1 20976759 rs540038 C T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1631,T/0.8369;Gene=PINK1/NM_032409.2/1;CC=c.1489-168C>T;VC=Intron;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding;DM=PINK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:9:9:0:0:5,4:173,106:0.00,9.80:0.00,9.80:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:13.6,42.0:0,0:0,0:21,36:130,114:3,8:-,NM_032409.2(PINK1) c.1489-168C>T:-,0.84:-,NOT_FOUND 1 20977185 . T . . NT END=20978871;NT GT ./. 1 20977221 rs686658 A T 115 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.1655,T/0.8345;Gene=PINK1/NM_032409.2/1;CC=c.*37A>T;VC=3UTR;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:63:20:0:0:26,37:850,1161:0.00,115.16:0.00,18.07:0.00,97.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,42.7:0,0:0,0:82,117:68,26:41,25:-,NM_032409.2(PINK1) c.*37A>T:-,0.84:-,0.853353 1 20977365 rs513414 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1633,G/0.8367;Gene=PINK1/NM_032409.2/1;CC=c.*181C>G;VC=3UTR;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:C,G:17:0:0:0:12,5:408,163:0.00,14.21:0.00,0.00:0.00,14.21:0.00,0.88:0.00,0.00:0.00,0.88:60,60:24.7,49.8:0,0:0,0:102,96:49,55:21,52:-,NM_032409.2(PINK1) c.*181C>G:-,0.84:-,NOT_FOUND 1 20977449 rs512550 G T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4782,C/.,T/0.5218;Gene=PINK1/NM_032409.2/1;CC=c.*265G>T;VC=3UTR;Gene=PINK1-AS/NR_046507.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,T:6:0:0:0:3,3:99,68:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.73:0.00,0.00:0.00,0.73:60,60:12.3,43.7:0,0:0,0:133,84:18,66:14,17:-,NM_032409.2(PINK1) c.*265G>T:-,0.55:-,NOT_FOUND 1 20978832 rs6893 T C 102 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=DDOST/NM_005216.4/1;CC=c.*40A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:50:0:0:31,26:1045,806:102.26,0.00:73.28,0.00:28.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,11.8:0,0:0,0:40,42:111,103:26,28:NM_005216.4(DDOST) c.*40A>G,-:0.83,-:0.844024,- 1 20979022 . C . . NT END=20979113;NT GT ./. 1 20979221 . C . . NT END=20979343;NT GT ./. 1 20979307 rs398102562 G GT 147 nt VT=INS;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.498,GT/0.502;DB;DBA=NA;PAF=NA;NP=1;NP=2861;Gene=DDOST/NM_005216.4/1;CC=c.1114+36dupA;VC=Intron;DM=DDOST/DDOST_48kD;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:96:62:49:0:46,1,49:1439,33,1523:0.00,1.58,147.10:0.00,-0.10,77.41:0.00,1.69,69.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.2,33.0,8.0:1,1,0:0,0,0:74,101,50:70,50,98:44,0,28:-,NM_005216.4(DDOST) c.1114+36_1114+37insA:-,0.53:-,0.567252 1 20979465 . C . . NT END=20980119;NT GT ./. 1 20979818 rs622525 A T 10 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1615,T/0.8385;Gene=DDOST/NM_005216.4/1;CC=c.993+302T>A;VC=Intron;DM=DDOST/DDOST_48kD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,T:8:3:0:0:4,4:97,108:0.00,10.28:0.00,10.33:0.00,-0.05:0.00,0.87:0.00,0.89:0.00,0.96:60,60:10.8,32.5:0,0:0,0:88,54:62,97:35,26:-,NM_005216.4(DDOST) c.993+302T>A:-,0.84:-,NOT_FOUND 1 20980268 . C . . NT END=20980715;NT GT ./. 1 20980865 . C . . NT END=20981106;NT GT ./. 1 20980922 rs2070658 G A 125 nt VT=SNV;PN=C;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.8946,A/0.1054;PC=0.001;Gene=DDOST/NM_005216.4/1;CC=c.697-58C>T;VC=Intron;DM=DDOST/DDOST_48kD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:29:0:0:42,36:1282,1163:124.81,0.00:41.38,0.00:83.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,14.5:0,0:0,0:105,101:45,45:26,27:NM_005216.4(DDOST) c.697-58C>T,-:0.11,-:NOT_FOUND,- 1 20981201 . C . . NT END=20981932;NT GT ./. 1 20981768 rs115601582 G T 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9848,T/0.01518;PC=0.079;Gene=DDOST/NM_005216.4/1;CC=c.602+165C>A;VC=Intron;DM=DDOST/DDOST_48kD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:G,T:9:9:0:0:5,4:151,101:0.00,9.31:0.00,9.31:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:67.0,65.5:0,0:0,0:21,65:129,85:14,15:-,NM_005216.4(DDOST) c.602+165C>A:-,0.02:-,NOT_FOUND 1 20981806 rs592851 G A 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.02696,A/0.973;Gene=DDOST/NM_005216.4/1;CC=c.602+127C>T;VC=Intron;DM=DDOST/DDOST_48kD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:331:38.33:38.33:0.00:1.00:1.00:0.00:60:47.9:0:0:51:100:30:NM_005216.4(DDOST) c.602+127C>T,NM_005216.4(DDOST) c.602+127C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 20982028 . C . . NT END=20982168;NT GT ./. 1 20982273 . C . . NT END=20982593;NT GT ./. 1 20982681 . C . . NT END=20987373;NT GT ./. 1 20987485 . C . . NT END=20987689;NT GT ./. 1 20987873 rs537816 G C 329 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.02696,C/0.973;PC=0.001;Gene=DDOST/NM_005216.4/1;CC=c.22C>G;ProtCh=p.R8G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:87:46:0:0:87:2880:329.48:111.42:218.06:1.00:1.00:1.00:60:39.7:0:0:86:64:33:NM_005216.4(DDOST) c.=,NM_005216.4(DDOST) c.=:0.98,0.98:0.974613,0.974613 1 20987895 . C . . NT END=20990810;NT GT ./. 1 20991256 . C . . NT END=20992706;NT GT ./. 1 20991273 rs56070322 G A 95 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.8738,A/0.1262;PC=0.099;Gene=KIF17/NM_001122819.2/0;CC=c.2909-18C>T;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.2612-18C>T;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.2912-18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:35:0:0:33,36:998,1137:94.76,0.00:32.45,0.00:62.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,18.8:0,0:0,0:102,93:44,43:21,24:NM_020816.2(KIF17) c.2912-18C>T,-:0.13,-:0.149623,- 1 20991479 rs615190 C G,T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.02855,T/0.9714 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:G,T:5:0:0:0:1,4:10,133:0.79,14.82:0.00,0.00:0.79,14.82:0.00,0.96:0.00,0.00:0.00,0.96:60,60:253.0,33.2:0,0:0,0:109,87:42,64:0,31:NM_020816.2(KIF17) c.2912-224G>C,NM_020816.2(KIF17) c.2912-224G>A:NOT_FOUND,0.97:NOT_FOUND,NOT_FOUND 1 20992819 rs631357 G C 64 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.2955,C/0.7045;PC=1.000;Gene=KIF17/NM_001122819.2/0;CC=c.2796C>G;ProtCh=p.D932E;VC=Missense;Gene=KIF17/NM_001287212.1/0;CC=c.2499C>G;ProtCh=p.D833E;VC=Missense;Gene=KIF17/NM_020816.3/1;CC=c.2799C>G;ProtCh=p.D933E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:49:28:0:0:21,28:686,940:64.07,0.00:25.41,0.00:38.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,3.2:0,0:0,0:90,92:56,45:21,28:NM_020816.2(KIF17) c.2799C>G (p.Asp933Glu),-:0.73,-:0.790251,- 1 20992825 . C . . NT END=20996913;NT GT ./. 1 20992933 rs573268 G C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.02696,C/0.973;Gene=KIF17/NM_001122819.2/0;CC=c.2791-109C>G;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.2494-109C>G;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.2794-109C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:0:0:0:9:259:30.13:0.00:30.13:1.00:0.00:1.00:60:63.3:0:0:96:55:44:NM_020816.2(KIF17) c.2794-109C>G,NM_020816.2(KIF17) c.2794-109C>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 20996757 rs1570663 T G 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7921,C/.,G/0.2079;Gene=KIF17/NM_001122819.2/0;CC=c.2790+157A>C;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.2493+157A>C;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.2793+157A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:G,T:8:8:0:0:3,5:79,117:7.05,0.00:7.05,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:26.3,32.8:0,0:0,0:121,23:30,127:10,2:NM_020816.2(KIF17) c.2793+157A>C,-:0.2,-:NOT_FOUND,- 1 20996985 . C . . NT END=20998430;NT GT ./. 1 20997072 rs41265075 A G 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.9786,G/0.02137;PC=0.001;Gene=KIF17/NM_001122819.2/0;CC=c.2723-91T>C;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.2423-88T>C;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.2723-88T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:10:0:0:13,11:402,353:0.00,33.37:0.00,11.40:0.00,21.97:0.00,1.00:0.00,0.99:0.00,1.00:60,60:23.9,41.4:0,0:0,0:119,105:31,44:21,22:-,NM_020816.2(KIF17) c.2723-88T>C:-,0.03:-,NOT_FOUND 1 20998690 . C . . NT END=21009145;NT GT ./. 1 20998849 rs72650862 C T 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9251,T/0.07488;Gene=KIF17/NM_001122819.2/0;CC=c.2464-160G>A;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.2164-160G>A;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.2464-160G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:7,12:227,369:0.00,37.19:0.00,0.00:0.00,37.19:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.4,39.2:0,0:0,0:124,109:27,41:22,17:-,NM_020816.2(KIF17) c.2464-160G>A:-,0.08:-,NOT_FOUND 1 21009378 . C . . NT END=21011301;NT GT ./. 1 21009586 rs669410 C T 44 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5168,T/0.4832;Gene=KIF17/NM_001122819.2/0;CC=c.2232-209G>A;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.1932-209G>A;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.2232-209G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:383:44.02:0.00:44.02:1.00:0.00:1.00:60:59.1:0:0:107:43:32:NM_020816.2(KIF17) c.2232-209G>A,NM_020816.2(KIF17) c.2232-209G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 1 21009611 rs669380 T A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5116,A/0.4884;Gene=KIF17/NM_001122819.2/0;CC=c.2232-234A>T;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.1932-234A>T;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.2232-234A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,C:9:0:0:0:8,1:228,10:26.15,0.59:0.00,0.00:26.15,0.59:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.1,83.0:0,0:0,0:106,133:43,16:27,0:NM_020816.2(KIF17) c.2232-234A>T,NM_020816.2(KIF17) c.2232-234A>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 21011514 . C . . NT END=21012538;NT GT ./. 1 21012620 . C . . NT END=21013880;NT GT ./. 1 21014438 . C . . NT END=21016680;NT GT ./. 1 21016829 . C . . NT END=21024871;NT GT ./. 1 21016838 . T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;Gene=KIF17/NM_001122819.2/0;CC=c.1234-10A>C;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.934-10A>C;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.1234-10A>C;VC=Intron;DM=KIF17/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:C,G,T:42:33:0:0:1,13,28:10,155,688:-0.08,10.48,0.00:-0.04,2.97,0.00:-0.04,7.51,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.97,0.00:60,60,60:83.0,31.8,14.8:0,1,0:0,0,0:105,50,98:46,80,42:0,32,28:NM_020816.2(KIF17) c.1234-10A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 21024901 rs522496 C T 63 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.4032,T/0.5968;PC=0.117;Gene=KIF17/NM_001122819.2/0;CC=c.1204G>A;ProtCh=p.V402M;VC=Missense;Gene=KIF17/NM_001287212.1/0;CC=c.904G>A;ProtCh=p.V302M;VC=Missense;Gene=KIF17/NM_020816.3/1;CC=c.1204G>A;ProtCh=p.V402M;VC=Missense;DM=KIF17/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:42:0:0:30,21:993,682:0.00,63.20:0.00,36.19:0.00,27.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,34.8:0,0:0,0:53,52:91,98:26,25:-,NM_020816.2(KIF17) c.1204G>A (p.Val402Met):-,0.62:-,0.591419 1 21024982 . C . . NT END=21030939;NT GT ./. 1 21031393 . C . . NT END=21036131;NT GT ./. 1 21036322 . C . . NT END=21039946;NT GT ./. 1 21039807 rs373620869 TA T 11 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TA/0.736,T/0.264;NP=1;PC=0.524;Gene=KIF17/NM_001122819.2/0;CC=c.480+139delT;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.180+139delT;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.480+139delT;VC=Intron;DM=KIF17/Kinesin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,TA,T:10:10:0:4:1,5,4:19,128,122:1.16,0.00,11.43:1.16,0.00,11.43:0.00,0.00,0.00:0.00,0.00,0.84:0.00,0.00,0.84:0.00,0.00,0.00:60,60,60:73.0,30.2,24.2:0,0,0:0,0,0:123,96,18:-14,36,132:0,24,8:-,NM_020816.2(KIF17) c.480+139delT:-,NOT_FOUND:-,NOT_FOUND 1 21040049 . C . . NT END=21041985;NT GT ./. 1 21040151 rs10916851 G A 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.723,A/0.277;Gene=KIF17/NM_001122819.2/0;CC=c.379-103C>T;VC=Intron;Gene=KIF17/NM_001287212.1/0;CC=c.79-103C>T;VC=Intron;Gene=KIF17/NM_020816.3/1;CC=c.379-103C>T;VC=Intron;DM=KIF17/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:1:0:0:10,7:327,226:32.47,0.00:2.95,0.00:29.52,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:33.6,11.3:0,0:0,0:115,99:35,52:29,10:NM_020816.2(KIF17) c.379-103C>T,-:0.29,-:NOT_FOUND,- 1 21042133 . C . . NT END=21043968;NT GT ./. 1 21044219 rs601392 A C 145 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.07528,C/0.9247;Gene=KIF17/NM_001122819.2/0;CC=c.-20T>G;VC=5UTR;Gene=KIF17/NM_001287212.1/0;CC=c.-447T>G;VC=5UTR;Gene=KIF17/NM_020816.3/1;CC=c.-20T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:113:65:0:0:66,47:1992,1560:0.00,145.16:0.00,54.44:0.00,90.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,46.0:0,0:0,0:79,74:66,73:36,29:-,NM_020816.2(KIF17) c.-20T>G:-,0.89:-,0.88199 1 21044255 . C . . NT END=21048284;NT GT ./. 1 21044362 rs371460735 CG C 69 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=380;PC=0.512;Gene=KIF17/NM_001122819.2/0;CC=c.-164delC;VC=5UTR;Gene=KIF17/NM_001287212.1/0;CC=c.-591delC;VC=5UTR;Gene=KIF17/NM_020816.3/1;CC=c.-164delC;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:CG,C:22:3:0:21:1,21:22,608:0.00,69.05:0.00,5.03:0.00,64.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,27.4:0,0:0,0:148,107:-4,43:0,31:NM_020816.2(KIF17) c.-118-u46delC,NM_020816.2(KIF17) c.-118-u46delC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21048489 . C . . NT END=21049248;NT GT ./. 1 21049409 . C . . NT END=21050118;NT GT ./. 1 21050228 . C . . NT END=21050575;NT GT ./. 1 21050745 . C . . NT END=21050888;NT GT ./. 1 21050958 rs592060 C T 207 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=C/0.1204,T/0.8796;PC=1.000;Gene=SH2D5/NM_001103160.1/0;CC=c.309G>A;ProtCh=p.Q103=;VC=Silent;Gene=SH2D5/NM_001103161.1/1;CC=c.561G>A;ProtCh=p.Q187=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:107:0:0:82,74:2725,2183:0.00,206.56:0.00,117.39:0.00,89.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,37.8:0,0:0,0:79,75:66,75:46,30:-,NM_001103161.1(SH2D5) c.561G>A (p.(=)):-,0.87:-,0.82026 1 21051129 . C . . NT END=21052412;NT GT ./. 1 21052560 . C . . NT END=21053493;NT GT ./. 1 21053569 . C . . NT END=21054015;NT GT ./. 1 21054097 . C . . NT END=21054450;NT GT ./. 1 21054289 . G C 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;Gene=SH2D5/NM_001103160.1/0;CC=c.-165-193C>G;VC=Intron;Gene=SH2D5/NM_001103161.1/1;CC=c.87+162C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:14:0:0:9,12:279,387:25.95,0.00:18.41,0.00:7.54,0.00:1.00,0.00:0.96,0.00:0.69,0.00:60,60:62.2,15.0:0,0:0,0:18,67:130,84:16,51:NM_001103161.1(SH2D5) c.87+162C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 21054538 . G . . NT END=21071289;NT GT ./. 1 21071585 . C . . NT END=21072035;NT GT ./. 1 21072150 . C . . NT END=21074036;NT GT ./. 1 21074149 . C . . NT END=21076215;NT GT ./. 1 21076469 . C . . NT END=21083658;NT GT ./. 1 21083750 . C . . NT END=21091869;NT GT ./. 1 21091861 rs1985278 G T 134 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7376,A/.,T/0.2624;PC=0.004;Gene=HP1BP3/NM_016287.3/1;CC=c.890+9C>A;VC=Intron;DM=HP1BP3/Linker_histone;DM=HP1BP3/Linker_histone GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:33:0:0:36:1165:133.63:104.05:29.58:1.00:1.00:1.00:60:35.5:0:0:44:91:21:NM_016287.3(HP1BP3) c.890+9C>A,NM_016287.3(HP1BP3) c.890+9C>A:0.26,0.26:0.342919,0.342919 1 21092025 . C . . NT END=21094076;NT GT ./. 1 21094158 . C . . NT END=21097422;NT GT ./. 1 21097567 . C . . NT END=21099943;NT GT ./. 1 21097592 rs373882719 G GT 8 rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;Gene=HP1BP3/NM_016287.3/1;CC=c.511-27dupA;VC=Intron;DM=HP1BP3/Linker_histone;DM=HP1BP3/Linker_histone;DM=HP1BP3/Linker_histone;DM=HP1BP3/Linker_histone;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:G,GT:45:23:4:0:41,4:1380,116:0.00,7.66:0.00,-0.61:0.00,8.26:0.00,0.57:0.00,0.78:0.00,0.91:60,70:3.4,47.8:0,0:0,0:86,125:54,25:27,6:-,NM_016287.3(HP1BP3) c.511-27_511-26insA:-,0.01:-,NOT_FOUND 1 21100104 . C . . NT END=21103089;NT GT ./. 1 21103244 . C . . NT END=21106304;NT GT ./. 1 21106405 . C . . NT END=21106837;NT GT ./. 1 21106934 . T . . NT END=21133811;NT GT ./. 1 21133994 . C . . NT END=21137230;NT GT ./. 1 21134248 rs67864326 GTT G 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.004;Gene=EIF4G3/NM_003760.4/0;CC=c.4577-257_4577-256delAA;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4685-257_4685-256delAA;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4595-257_4595-256delAA;VC=Intron;DM=EIF4G3/W2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:GTT,T,G:4:0:0:3:1,1,2:22,12,64:0.00,0.95,6.45:0.00,0.00,0.00:0.00,0.95,6.45:0.00,0.00,0.51:0.00,0.00,0.00:0.00,0.00,0.51:60,60,60:153.0,89.0,5.5:0,0,0:0,0,0:142,51,107:9,99,43:0,0,10:-,NM_001198801.1(EIF4G3) c.4685-257_4685-256delAA:-,NOT_FOUND:-,NOT_FOUND 1 21137378 . C . . NT END=21139650;NT GT ./. 1 21139733 . C . . NT END=21143884;NT GT ./. 1 21139891 rs11303095 TA T 7 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5;PC=0.057;Gene=EIF4G3/NM_003760.4/0;CC=c.4348-160delT;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4456-160delT;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4366-160delT;VC=Intron;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:TA,T:5:0:0:4:2,3:58,95:0.00,7.22:0.00,0.00:0.00,7.22:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,42.7:0,1:0,0:150,71:1,79:0,14:-,NM_001198801.1(EIF4G3) c.4456-160delT:-,NOT_FOUND:-,NOT_FOUND 1 21142034 rs71512959 C T 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=447;Gene=EIF4G3/NM_003760.4/0;CC=c.4347+1851G>A;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4455+1851G>A;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4365+1851G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:3:0:0:1,3:33,102:0.00,10.65:0.00,7.00:0.00,3.65:0.00,0.85:0.00,0.99:0.00,0.83:21,42:0.0,89.7:0,0:0,0:120,59:29,92:0,33:-,NM_001198801.1(EIF4G3) c.4455+1851G>A:-,NOT_FOUND:-,NOT_FOUND 1 21143733 rs10916870 T A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2624,A/0.7376;NP=11;PC=0.463;Gene=EIF4G3/NM_003760.4/0;CC=c.4347+152A>T;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4455+152A>T;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4365+152A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,T:7:7:0:0:6,1:171,34:18.64,0.00:18.64,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:85.3,51.0:1,0:0,0:17,37:122,114:12,0:NM_001198801.1(EIF4G3) c.4455+152A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 21143762 rs35569463 T A 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5441,A/0.4559;NP=44;PC=0.076;Gene=EIF4G3/NM_003760.4/0;CC=c.4347+123A>T;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4455+123A>T;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4365+123A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:1:14:434:50.03:50.03:0.00:1.00:1.00:0.00:60:60.0:0:0:25:125:18:NM_001198801.1(EIF4G3) c.4455+123A>T,NM_001198801.1(EIF4G3) c.4455+123A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21143770 rs376814165 TA T 42 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=66;Gene=EIF4G3/NM_003760.4/0;CC=c.4347+114delT;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4455+114delT;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4365+114delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:TA,T:13:13:0:14:1,12:11,376:0.00,41.92:0.00,41.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:55,60:68.0,49.2:0,0:0,0:137,21:9,129:0,8:NM_001198801.1(EIF4G3) c.4455+114delT,NM_001198801.1(EIF4G3) c.4455+114delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21143782 rs199824574 A AAT 56 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1;NP=61;PC=0.165;Gene=EIF4G3/NM_003760.4/0;CC=c.4347+102_4347+103insAT;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4455+102_4455+103insAT;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4365+102_4365+103insAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:AAT:16:16:16:0:16:481:55.72:55.72:0.00:1.00:1.00:0.00:70:51.8:0:0:32:118:12:NM_001198801.1(EIF4G3) c.4455+102_4455+103insAT,NM_001198801.1(EIF4G3) c.4455+102_4455+103insAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21144032 . C . . NT END=21151592;NT GT ./. 1 21151692 . C . . NT END=21154109;NT GT ./. 1 21151744 rs71585786 G A 7 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.002;Gene=EIF4G3/NM_003760.4/0;CC=c.4102-53C>T;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4210-53C>T;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4120-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:A,G,I,D:20:9:4:1:5,11,3,1:86,271,118,34:6.59,0.00,6.57,2.33:-0.47,0.00,4.60,2.47:7.06,0.00,1.97,-0.15:0.85,0.00,0.00,0.00:0.88,0.00,0.00,0.00:0.95,0.00,0.00,0.00:60,60,70,60:121.6,42.9,62.0,0.0:0,0,1,0:0,0,0,0:68,126,107,120:83,17,40,30:10,10,5,0:NM_001198801.1(EIF4G3) c.4210-53C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 21151905 rs397979498 AG A 35 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AG/0.0627,A/0.9373;DB;DBA=NA;PAF=AG/0.0627,A/0.9373;NP=319;Gene=EIF4G3/NM_003760.4/0;CC=c.4102-215delC;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4210-215delC;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.4120-215delC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:10:10:304:35.16:0.00:35.16:1.00:0.00:1.00:60:17.1:0:0:101:49:22:NM_001198801.1(EIF4G3) c.4210-215delC,NM_001198801.1(EIF4G3) c.4210-215delC:0.95,0.95:NOT_FOUND,NOT_FOUND 1 21154192 . C . . NT END=21155639;NT GT ./. 1 21155766 . C . . NT END=21167348;NT GT ./. 1 21167102 rs935917 T A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4018,A/0.5982;Gene=EIF4G3/NM_003760.4/0;CC=c.3893+247A>T;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.4001+247A>T;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.3911+247A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:45.0:0:0:63:88:17:NM_001198801.1(EIF4G3) c.4001+247A>T,NM_001198801.1(EIF4G3) c.4001+247A>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 21167404 rs2230573 A G 299 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.0623,G/0.9377;PC=1.000;Gene=EIF4G3/NM_003760.4/0;CC=c.3838T>C;ProtCh=p.L1280=;VC=Silent;Gene=EIF4G3/NM_001198801.1/1;CC=c.3946T>C;ProtCh=p.L1316=;VC=Silent;Gene=EIF4G3/NM_001198802.1/0;CC=c.3856T>C;ProtCh=p.L1286=;VC=Silent;DM=EIF4G3/MA3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:59:0:0:78:2622:299.39:189.39:110.00:1.00:1.00:1.00:60:42.3:0:0:61:85:31:NM_001198801.1(EIF4G3) c.3946T>C (p.(=)),NM_001198801.1(EIF4G3) c.3946T>C (p.(=)):0.95,0.95:0.936875,0.936875 1 21167522 . C . . NT END=21175907;NT GT ./. 1 21175855 rs7525082 C A 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.0627,A/0.9373;Gene=EIF4G3/NM_003760.4/0;CC=c.3720+53G>T;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.3828+53G>T;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.3738+53G>T;VC=Intron;DM=EIF4G3/MA3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:14:0:0:17:523:60.31:46.74:13.57:1.00:1.00:1.00:60:52.1:0:0:53:97:36:NM_001198801.1(EIF4G3) c.3828+53G>T,NM_001198801.1(EIF4G3) c.3828+53G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 21176024 . C . . NT END=21177750;NT GT ./. 1 21177972 . C . . NT END=21180052;NT GT ./. 1 21179969 rs7542882 G A 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.0627,A/0.9373;Gene=EIF4G3/NM_003760.4/0;CC=c.3383+84C>T;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.3491+84C>T;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.3401+84C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:10:0:0:11:337:38.94:36.06:2.88:1.00:1.00:1.00:60:47.4:0:0:43:107:26:NM_001198801.1(EIF4G3) c.3491+84C>T,NM_001198801.1(EIF4G3) c.3491+84C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 21180171 . C . . NT END=21181470;NT GT ./. 1 21180181 rs2305463 C T 123 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.4273,A/.,T/0.5727;PC=0.258;Gene=EIF4G3/NM_003760.4/0;CC=c.3266-11G>A;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.3374-11G>A;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.3284-11G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:15:0:0:33:1068:122.52:38.57:83.95:1.00:1.00:1.00:60:59.3:0:0:84:67:30:NM_001198801.1(EIF4G3) c.3374-11G>A,NM_001198801.1(EIF4G3) c.3374-11G>A:0.58,0.58:0.503767,0.503767 1 21180250 rs7543140 G A 75 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4137,A/0.5863;Gene=EIF4G3/NM_003760.4/0;CC=c.3266-80C>T;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.3374-80C>T;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.3284-80C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A,C:22:1:0:0:21,1:650,19:74.59,1.06:1.88,0.00:72.71,1.06:1.00,0.00:0.97,0.00:1.00,0.00:60,60:64.1,138.0:0,0:0,0:99,85:52,66:32,0:NM_001198801.1(EIF4G3) c.3374-80C>T,NM_001198801.1(EIF4G3) c.3374-80C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 21181565 . C . . NT END=21183895;NT GT ./. 1 21183991 . C . . NT END=21186877;NT GT ./. 1 21187011 . C . . NT END=21188720;NT GT ./. 1 21188703 rs10916885 A T 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4243,T/0.5757;Gene=EIF4G3/NM_003760.4/0;CC=c.2943+18T>A;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.3051+18T>A;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.2961+18T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:5:0:2:8:257:29.51:18.58:10.93:1.00:1.00:1.00:60:43.5:0:0:37:114:23:NM_001198801.1(EIF4G3) c.3051+18T>A,NM_001198801.1(EIF4G3) c.3051+18T>A:0.57,0.57:0.493388,0.493388 1 21188826 . C . . NT END=21190968;NT GT ./. 1 21191206 . C . . NT END=21191608;NT GT ./. 1 21191416 rs3816454 T G 72 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.3057,G/0.6943;Gene=EIF4G3/NM_003760.4/0;CC=c.2601+193A>C;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.2709+193A>C;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.2619+193A>C;VC=Intron;DM=EIF4G3/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:13:0:0:19:626:71.63:48.06:23.56:1.00:1.00:1.00:60:77.0:0:0:78:73:34:NM_001198801.1(EIF4G3) c.2709+193A>C,NM_001198801.1(EIF4G3) c.2709+193A>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 21191430 rs3816455 A G 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6054,G/0.3946;Gene=EIF4G3/NM_003760.4/0;CC=c.2601+179T>C;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.2709+179T>C;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.2619+179T>C;VC=Intron;DM=EIF4G3/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:20:0:0:27:847:97.52:73.20:24.32:1.00:1.00:1.00:60:64.4:0:0:55:96:50:NM_001198801.1(EIF4G3) c.2709+179T>C,NM_001198801.1(EIF4G3) c.2709+179T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 1 21191756 . C . . NT END=21205815;NT GT ./. 1 21206014 . C . . NT END=21212693;NT GT ./. 1 21206143 rs7545133 T G 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3774,G/0.6226;PC=0.001;Gene=EIF4G3/NM_003760.4/0;CC=c.2257-130A>C;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.2365-130A>C;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.2275-130A>C;VC=Intron;DM=EIF4G3/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:306:35.37:0.00:35.37:1.00:0.00:1.00:60:41.4:0:0:109:41:32:NM_001198801.1(EIF4G3) c.2365-130A>C,NM_001198801.1(EIF4G3) c.2365-130A>C:0.63,0.63:NOT_FOUND,NOT_FOUND 1 21212865 . C . . NT END=21219111;NT GT ./. 1 21219223 . C . . NT END=21220009;NT GT ./. 1 21220130 . C . . NT END=21221860;NT GT ./. 1 21220375 rs2275468 T G 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3636,G/0.6364;Gene=EIF4G3/NM_003760.4/0;CC=c.1966-246A>C;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.1963-246A>C;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.1984-246A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:302:34.49:0.00:34.49:1.00:0.00:1.00:60:47.3:0:0:120:31:11:NM_001198801.1(EIF4G3) c.1963-246A>C,NM_001198801.1(EIF4G3) c.1963-246A>C:0.65,0.65:NOT_FOUND,NOT_FOUND 1 21221995 . C . . NT END=21226189;NT GT ./. 1 21226437 . C . . NT END=21231375;NT GT ./. 1 21231465 . C . . NT END=21267736;NT GT ./. 1 21267889 . C . . NT END=21267983;NT GT ./. 1 21267993 rs35176330 G C 135 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.9886,C/0.01138;PC=1.000;Gene=EIF4G3/NM_003760.4/0;CC=c.1486C>G;ProtCh=p.P496A;VC=Missense;Gene=EIF4G3/NM_001198801.1/1;CC=c.1483C>G;ProtCh=p.P495A;VC=Missense;Gene=EIF4G3/NM_001198802.1/0;CC=c.1504C>G;ProtCh=p.P502A;VC=Missense;Gene=EIF4G3/NM_001198803.1/0;CC=c.1519C>G;ProtCh=p.P507A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:113:76:0:0:47,65,1:1462,1981,12:135.47,0.00,-0.11:65.14,0.00,-0.02:70.33,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.0,5.3,177.0:0,0,0:0,0,0:90,73,139:61,74,12:34,29,0:NM_001198801.1(EIF4G3) c.1483C>G (p.Pro495Ala),-:0.02,-:0.023297,- 1 21268824 . C . . NT END=21276495;NT GT ./. 1 21276605 . C . . NT END=21295966;NT GT ./. 1 21296090 . C . . NT END=21299494;NT GT ./. 1 21299593 . C . . NT END=21306826;NT GT ./. 1 21306942 . C . . NT END=21307540;NT GT ./. 1 21307721 . C . . NT END=21308880;NT GT ./. 1 21307743 . AT A 11 rn VT=DEL;SST=Single;DP=43;NP=14;PC=0.005;Gene=EIF4G3/NM_003760.4/0;CC=c.31-24delA;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.31-24delA;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.52-24delA;VC=Intron;Gene=EIF4G3/NM_001198803.1/0;CC=c.64-24delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:AT,T,I,A:42:12:1:6:35,1,1,5:1097,32,31,190:0.00,1.69,1.59,11.44:0.00,-0.05,-0.05,1.10:0.00,1.74,1.64,10.34:0.00,0.00,0.00,0.75:0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.97:60,60,60,70:20.1,32.0,16.0,18.8:0,0,0,1:0,0,0,0:116,143,123,96:26,8,28,46:25,0,0,20:-,NM_001198801.1(EIF4G3) c.31-24delA:-,NOT_FOUND:-,NOT_FOUND 1 21308902 . C . . NT END=21324093;NT GT ./. 1 21324127 . C . . NT END=21329205;NT GT ./. 1 21329236 . T . . NT END=21546447;NT GT ./. 1 21329483 rs5772933 C CT 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5479,CT/0.4521;DB;DBA=NA;PAF=C/0.5479,CT/0.4521;DB;DBA=NA;PAF=C/0.5479,CT/0.4521;NP=16;PC=0.998;Gene=EIF4G3/NM_003760.4/0;CC=c.-66-183_-66-182insA;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.-66-183_-66-182insA;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.-66-183_-66-182insA;VC=Intron;Gene=EIF4G3/NM_001198803.1/0;CC=c.-66-183_-66-182insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,CT,D:8:0:3:1:4,3,1:115,95,33:0.00,8.84,2.64:0.00,0.00,0.00:0.00,8.84,2.64:0.00,0.67,0.00:0.00,0.00,0.00:0.00,0.67,0.00:60,60,60:2.8,9.7,0.0:0,0,0:0,0,0:144,77,119:7,74,32:1,2,0:-,NM_001198801.1(EIF4G3) c.-66-183_-66-182insA:-,NOT_FOUND:-,NOT_FOUND 1 21390198 . TGG T 10 nt VT=DEL;SST=Single;DP=5;PC=0.036;Gene=EIF4G3/NM_003760.4/0;CC=c.-195-12713_-195-12712delCC;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.-195-12713_-195-12712delCC;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.-195-12713_-195-12712delCC;VC=Intron;Gene=EIF4G3/NM_001198803.1/0;CC=c.-195-12713_-195-12712delCC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:TGG,T:4:4:0:4:1,3:24,131:0.00,10.27:0.00,4.99:0.00,5.28:0.00,0.78:0.00,0.97:0.00,0.87:60,60:46.0,19.3:0,1:0,0:122,66:2,59:0,36:-,NM_001198801.1(EIF4G3) c.-195-12713_-195-12712delCC:-,NOT_FOUND:-,NOT_FOUND 1 21390213 rs148563014 TG T 8 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7;Gene=EIF4G3/NM_003760.4/0;CC=c.-195-12727delC;VC=Intron;Gene=EIF4G3/NM_001198801.1/1;CC=c.-195-12727delC;VC=Intron;Gene=EIF4G3/NM_001198802.1/0;CC=c.-195-12727delC;VC=Intron;Gene=EIF4G3/NM_001198803.1/0;CC=c.-195-12727delC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TG,T:4:3:0:3:1,3:32,74:0.00,7.85:0.00,6.72:0.00,1.12:0.00,0.85:0.00,0.99:0.00,0.95:60,60:44.0,4.7:0,0:0,0:146,57:5,49:0,27:-,NM_001198801.1(EIF4G3) c.-195-12727delC:-,NOT_FOUND:-,NOT_FOUND 1 21546625 . C . . NT END=21548239;NT GT ./. 1 21548336 . C . . NT END=21551742;NT GT ./. 1 21551934 . C . . NT END=21553651;NT GT ./. 1 21553720 . C . . NT END=21554423;NT GT ./. 1 21554319 rs6426676 A G 65 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.01258,G/0.9874;Gene=ECE1/NM_001113347.1/0;CC=c.1745+105T>C;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.1772+105T>C;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.1781+105T>C;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.1733+105T>C;VC=Intron;DM=ECE1/Peptidase_M13;DM=ECE1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:18:0:0:18:562:64.78:62.79:1.99:1.00:1.00:1.00:60:44.9:0:0:25:124:23:NM_001113348.1(ECE1) c.1733+105T>C,NM_001113348.1(ECE1) c.1733+105T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 21554535 . C . . NT END=21560050;NT GT ./. 1 21554573 rs3026901 C T 64 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.979,G/.,T/0.02097;Gene=ECE1/NM_001113347.1/0;CC=c.1635-39G>A;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.1662-39G>A;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.1671-39G>A;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.1623-39G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:22:0:0:28,21:813,681:0.00,63.67:0.00,17.57:0.00,46.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,40.9:0,0:0,0:104,79:45,72:28,35:-,NM_001113348.1(ECE1) c.1623-39G>A:-,0.02:-,0.038353 1 21560155 . C . . NT END=21562342;NT GT ./. 1 21562421 . C . . NT END=21563238;NT GT ./. 1 21563338 . C . . NT END=21564626;NT GT ./. 1 21564738 . C . . NT END=21571481;NT GT ./. 1 21571597 . C . . NT END=21573713;NT GT ./. 1 21573603 rs212513 C T 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7478,T/0.2522;PC=0.006;Gene=ECE1/NM_001113347.1/0;CC=c.1127+111G>A;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.1154+111G>A;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.1163+111G>A;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.1115+111G>A;VC=Intron;DM=ECE1/Peptidase_M13_N;DM=ECE1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:33:0:0:12,21:388,694:0.00,70.01:0.00,65.00:0.00,5.00:0.00,1.00:0.00,1.00:0.00,0.98:60,60:5.6,38.0:0,0:0,0:58,61:93,89:12,32:-,NM_001113348.1(ECE1) c.1115+111G>A:-,0.24:-,NOT_FOUND 1 21573857 . C . . NT END=21582439;NT GT ./. 1 21582425 rs212522 C T 149 nt VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.8854,T/0.1146;Gene=ECE1/NM_001113347.1/0;CC=c.984+15G>A;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.1011+15G>A;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.1020+15G>A;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.972+15G>A;VC=Intron;DM=ECE1/Peptidase_M13_N;DM=ECE1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:80:69:0:0:33,1,46:1015,5,1500:0.00,-0.15,148.63:0.00,-0.10,104.77:0.00,-0.04,43.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.1,78.0,43.2:0,0,0:0,0,0:72,100,50:76,49,99:33,0,34:-,NM_001113348.1(ECE1) c.972+15G>A:-,0.12:-,0.092803 1 21582632 . C . . NT END=21584017;NT GT ./. 1 21582874 rs212523 C A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8087,A/0.1913;Gene=ECE1/NM_001113347.1/0;CC=c.793-243G>T;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.820-243G>T;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.829-243G>T;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.781-243G>T;VC=Intron;DM=ECE1/Peptidase_M13_N;DM=ECE1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,C:12:0:0:0:4,8:112,238:9.79,0.00:0.00,0.00:9.79,0.00:0.80,0.00:0.00,0.00:0.80,0.00:60,60:41.0,11.9:0,0:0,0:118,73:33,77:13,30:NM_001113348.1(ECE1) c.781-243G>T,-:0.2,-:NOT_FOUND,- 1 21584084 . C . . NT END=21585185;NT GT ./. 1 21584941 rs212526 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2396,C/0.7604;Gene=ECE1/NM_001113347.1/0;CC=c.726+245A>G;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.753+245A>G;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.762+245A>G;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.714+245A>G;VC=Intron;DM=ECE1/Peptidase_M13_N;DM=ECE1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,T:9:9:0:0:5,4:153,137:14.99,0.00:14.99,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:49.8,0.0:0,0:0,0:71,76:80,70:32,12:NM_001113348.1(ECE1) c.714+245A>G,-:0.75,-:NOT_FOUND,- 1 21585014 rs212527 C T 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.868,T/0.132;Gene=ECE1/NM_001113347.1/0;CC=c.726+172G>A;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.753+172G>A;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.762+172G>A;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.714+172G>A;VC=Intron;DM=ECE1/Peptidase_M13_N;DM=ECE1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:15:0:0:7,8:222,243:0.00,23.61:0.00,23.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.0,53.9:0,0:0,0:30,51:120,89:17,26:-,NM_001113348.1(ECE1) c.714+172G>A:-,0.13:-,NOT_FOUND 1 21585333 . C . . NT END=21586763;NT GT ./. 1 21585661 rs212528 T C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8672,C/0.1328;PC=0.010;Gene=ECE1/NM_001113347.1/0;CC=c.580-329A>G;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.607-329A>G;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.616-329A>G;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.568-329A>G;VC=Intron;DM=ECE1/Peptidase_M13_N;DM=ECE1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:5:0:0:0:4,1:118,32:12.60,0.00:0.00,0.00:12.60,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:29.5,0.0:0,0:0,0:95,61:55,90:10,0:NM_001113348.1(ECE1) c.568-329A>G,-:0.13,-:NOT_FOUND,- 1 21586886 . c . . NT END=21599191;NT GT ./. 1 21599405 . C . . NT END=21605683;NT GT ./. 1 21599839 rs71014178 C CGT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=37;NP=4;PC=0.468;Gene=ECE1/NM_001113347.1/0;CC=c.245-436_245-435insAC;VC=Intron;Gene=ECE1/NM_001113349.1/0;CC=c.272-436_272-435insAC;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.281-436_281-435insAC;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.233-436_233-435insAC;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:C,CGT,D:6:4:5:1:1,4,1:36,148,32:0.00,12.06,2.77:0.00,5.07,-0.03:0.00,6.99,2.80:0.00,0.90,0.00:0.00,0.97,0.00:0.00,0.98,0.00:60,60,60:0.0,18.2,0.0:0,1,0:0,0,0:88,66,106:37,85,45:0,36,0:-,NM_001113348.1(ECE1) c.233-436_233-435insAC:-,NOT_FOUND:-,NOT_FOUND 1 21606184 . C . . NT END=21616562;NT GT ./. 1 21606304 rs28367936 C T 73 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.9617,T/0.03834;Gene=ECE1/NM_001113349.1/0;CC=c.130-479G>A;VC=Intron;Gene=ECE1/NM_001397.2/0;CC=c.139-479G>A;VC=Intron;Gene=ECE1/NM_001113348.1/1;CC=c.91-479G>A;VC=Intron;DM=ECE1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:9:0:0:23,25:675,754:0.00,72.88:0.00,9.74:0.00,63.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,50.3:0,0:0,0:120,105:31,44:19,19:-,NM_001113348.1(ECE1) c.91-479G>A:-,0.05:-,NOT_FOUND 1 21616767 . C . . NT END=21616856;NT GT ./. 1 21616932 rs142246501 G T 422 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=299;DB;DBA=NA;PAF=G/0.9601,T/0.03994;PC=0.001;Gene=ECE1/NM_001397.2/0;CC=c.-25C>A;VC=5UTR;Gene=ECE1/NM_001113348.1/1;CC=c.4-283C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:299:158:0:0:1,160,138:12,5157,4458:-0.15,0.00,422.34:-0.02,0.00,170.48:-0.14,0.00,251.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:102.0,10.8,40.6:0,0,0:0,0,0:76,75,84:75,70,64:0,34,36:-,NM_001113348.1(ECE1) c.4-283C>A:-,0.06:-,NOT_FOUND 1 21616983 . T . . NT END=21671868;NT GT ./. 1 21617245 rs213045 G T 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5014,T/0.4986;Gene=ECE1/NM_001113348.1/1;CC=c.4-596C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:0:0:0:9,9:296,260:0.00,24.86:0.00,0.00:0.00,24.86:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.1,55.0:0,0:0,0:103,95:48,55:34,16:-,NM_001113348.1(ECE1) c.4-596C>A:-,0.47:-,NOT_FOUND 1 21669106 rs12138033 C T 11 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=131;Gene=ECE1/NM_001113348.1/1;CC=c.3+2763G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:5:4:0:2:1,4:36,100:0.00,10.73:0.00,10.09:0.00,0.64:0.00,0.96:0.00,1.00:0.00,0.97:60,60:61.0,36.8:1,0:0,0:18,23:133,128:0,9:-,NM_001113348.1(ECE1) c.3+2763G>A:-,NOT_FOUND:-,NOT_FOUND 1 21671872 . A . . NT END=21771579;NT GT ./. 1 21671943 rs2072654 T G 152 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.389,G/0.611;Gene=ECE1/NM_001113348.1/1;CC=c.-72A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:92:45:0:0:49,43:1565,1341:152.24,0.00:44.47,0.00:107.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,25.7:0,0:0,0:102,115:47,36:24,16:NM_001113348.1(ECE1) c.-72A>C,-:0.55,-:NOT_FOUND,- 1 21671973 rs114921587 G A 93 nt VT=SNV;PN=G;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.97,A/0.02995;PC=0.002;Gene=ECE1/NM_001113348.1/1;CC=c.-102C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:19:0:0:34,39:989,1257:93.20,0.00:13.89,0.00:79.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,33.4:0,0:0,0:116,119:34,31:26,18:NM_001113348.1(ECE1) c.-102C>T,-:0.05,-:NOT_FOUND,- 1 21689890 rs2796356 C A 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3433,A/0.6567;PC=0.128 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,C:7:5:0:0:4,3:134,103:13.23,0.00:4.68,0.00:8.55,0.00:0.90,0.00:0.98,0.00:0.97,0.00:60,60:33.5,25.0:0,0:0,0:119,36:31,111:7,27:chr1 g.21689889C>A (intergenic),-:0.68,-:NOT_FOUND,- 1 21737954 rs4061698 T C 46 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.9193,C/0.08067;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:31:0:0:15,16:484,549:46.23,0.00:41.99,0.00:4.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,34.3:0,0:0,0:34,67:99,83:11,31:chr1 g.21737953T>C (intergenic),-:0.06,-:NOT_FOUND,- 1 21738020 rs2316499 A G 50 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.3397,G/0.6603;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:34:0:0:24,16:744,536:0.00,49.55:0.00,26.29:0.00,23.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,38.1:0,0:0,0:60,81:88,64:33,23:-,chr1 g.21738019A>G (intergenic):-,0.72:-,NOT_FOUND 1 21750970 rs149361209 T A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=2824;PC=0.201 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,T:11:11:0:0:3,8:99,233:8.54,0.00:8.61,0.00:-0.07,0.00:0.60,0.00:0.60,0.00:0.52,0.00:42,42:67.0,24.9:0,0:0,0:39,33:110,117:4,26:chr1 g.21750969T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21751068 rs71512975 C G 84 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.1206,G/0.8794;NP=3377;PC=0.532 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:23:0:0:23:728:83.68:83.68:0.00:1.00:1.00:0.00:42:76.3:0:0:52:99:37:chr1 g.21751067C>G (intergenic),chr1 g.21751067C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21751116 rs200628132 G C 96 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,G:34:32:0:0:27,7:905,232:95.87,0.00:96.04,0.00:-0.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,42:97.9,4.1:0,0:0,0:60,24:91,127:31,15:chr1 g.21751115G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21751142 rs150916531 A G 124 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=3313;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,G:43:40:0:0:8,35:254,1166:0.00,124.29:0.00,111.41:0.00,12.88:0.00,1.00:0.00,1.00:0.00,1.00:42,43:0.0,91.9:0,0:0,0:33,39:117,111:7,27:-,chr1 g.21751141A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 21751214 rs72476501 G A 214 nt VT=SNV;PN=T;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=3302;PC=0.241 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:64:0:0:65,15:2001,508:214.17,0.00:149.76,0.00:64.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,42:52.2,2.7:0,0:0,0:56,71:89,54:27,36:chr1 g.21751213G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21752682 rs2316503 G A 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=2630;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:62:0:0:11,52:360,1608:28.60,0.00:24.03,0.00:4.56,0.00:0.99,0.00:1.00,0.00:0.84,0.00:43,44:79.3,28.8:0,0:0,0:37,44:114,104:26,29:chr1 g.21752681G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21752746 rs140646278 G A 281 nt VT=SNV;PN=A;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=0.110 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:95:85:0:0:82,13:2586,458:281.09,0.00:234.20,0.00:46.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,43:36.5,94.3:0,0:0,0:62,87:88,59:30,27:chr1 g.21752745G>A (intergenic),-:0.14,-:NOT_FOUND,- 1 21752766 rs3928620 A G 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=3189;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,G:102:85:0:0:89,13:2845,398:0.00,29.20:0.00,15.59:0.00,13.61:0.00,1.00:0.00,1.00:0.00,0.98:43,43:31.0,93.9:0,0:0,0:62,103:88,44:37,18:-,chr1 g.21752765A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 21752782 rs140348908 T G 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=NA;NP=2610;PC=0.086 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G,T:107:86:0:0:1,11,95:7,352,3069:-0.33,25.18,0.00:-0.22,12.74,0.00:-0.11,12.43,0.00:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.96,0.00:40,43,43:91.0,98.5,24.3:0,0,0:0,0,0:56,109,50:94,32,101:0,16,31:chr1 g.21752781T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21753468 rs200991536 T A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1051;PC=0.871 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:19:0:0:7,13:229,446:20.62,0.00:17.29,0.00:3.32,0.00:0.97,0.00:1.00,0.00:0.57,0.00:27,39:52.7,16.4:0,0:0,0:72,91:79,60:23,18:chr1 g.21753467T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21753562 rs146549873 A C 179 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.109 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:29:0:0:46:1575:179.44:81.21:98.22:1.00:1.00:1.00:40:44.7:0:0:62:83:18:chr1 g.21753561A>C (intergenic),chr1 g.21753561A>C (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 1 21753584 rs181635696 A T 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.539 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:25:0:0:36,10:1235,338:0.00,28.11:0.00,3.53:0.00,24.59:0.00,0.99:0.00,0.99:0.00,1.00:44,39:36.4,73.4:0,0:0,0:69,87:70,62:23,9:-,chr1 g.21753583A>T (intergenic):-,0.01:-,NOT_FOUND 1 21753715 rs7364712 T C 56 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1780;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:1:0:0:16:481:55.71:1.94:53.77:1.00:1.00:1.00:44:37.4:0:0:121:30:16:chr1 g.21753714T>C (intergenic),chr1 g.21753714T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21754283 rs6426689 A C 1359 nt VT=SNV;PN=A;NN=G;SST=Single;DP=365;DB;DBA=NA;PAF=A/0.122,C/0.878;PC=0.462 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:365:315:0:0:364,1:11866,8:1359.15,0.02:1030.86,0.02:328.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,52:38.0,71.0:0,0:0,0:59,94:90,57:32,0:chr1 g.21754282A>C (intergenic),chr1 g.21754282A>C (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 1 21754579 rs182447390 G A 177 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=G/0.9165,A/0.08347;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:116:4:0:0:60,56:1829,1821:176.60,0.00:-1.11,0.00:177.71,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:106.5,16.7:0,0:0,0:103,84:47,66:27,34:chr1 g.21754578G>A (intergenic),-:0.07,-:NOT_FOUND,- 1 21754580 rs187068838 C A 179 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.9165,A/0.08347 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:114:4:0:0:60,54:1850,1468:179.48,0.00:-1.13,0.00:180.61,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:106.5,16.5:0,0:0,0:104,85:46,65:27,33:chr1 g.21754579C>A (intergenic),-:0.07,-:NOT_FOUND,- 1 21754627 rs368696258 G A 96 nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9197,A/0.08027;NP=8;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:5:0:0:36,34:1004,1124:96.38,0.00:5.74,0.00:90.65,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:129.5,17.4:0,0:0,0:111,104:38,46:21,27:chr1 g.21754626G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21754636 rs371663476 T C 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.9165,C/0.08347;NP=4;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:6:0:0:32,34:841,1055:79.29,0.00:5.87,0.00:73.42,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:131.4,22.2:0,0:0,0:117,109:31,41:22,27:chr1 g.21754635T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 21754711 . G C 115 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;NP=21;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A,C:34:20:0:0:1,33:11,996:0.30,114.88:0.30,64.85:0.00,50.04:0.00,1.00:0.00,1.00:0.00,1.00:42,43:43.0,57.2:0,0:0,0:40,66:111,84:0,45:chr1 g.21754710G>C (intergenic),chr1 g.21754710G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21754920 rs183181907 G T 124 nt VT=SNV;PN=T;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.9413,T/0.05871;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:73:55:0:0:1,32,40:6,992,1263:-0.15,0.00,123.83:-0.08,0.00,85.77:-0.07,0.00,38.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:54,60,60:123.0,47.2,62.5:0,0,0:0,0,0:72,95,72:78,56,71:0,28,44:-,chr1 g.21754919G>T (intergenic):-,0.08:-,NOT_FOUND 1 21754981 rs148590544 C G 89 nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.9167,G/0.08327;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:59:32:0:0:30,29:921,931:0.00,89.21:0.00,30.81:0.00,58.40:0.00,1.00:0.00,1.00:0.00,1.00:58,60:77.0,125.8:0,0:0,0:82,49:57,102:30,31:-,chr1 g.21754980C>G (intergenic):-,0.07:-,NOT_FOUND 1 21754996 rs12024079 C T 195 nt VT=SNV;PN=G;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.127,T/0.873;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G,T:56:29:0:0:1,55:11,1690:0.21,194.72:0.21,75.25:0.00,119.47:0.00,1.00:0.00,1.00:0.00,1.00:51,56:108.0,102.2:0,0:0,0:127,75:13,76:0,37:chr1 g.21754995C>T (intergenic),chr1 g.21754995C>T (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 1 21755013 rs201191572 C T 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.9167,T/0.08327;PC=0.953 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:50:24:0:0:24,1,25:725,7,813:0.00,-0.12,78.46:0.00,-0.00,19.69:0.00,-0.12,58.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,40,44:79.8,166.0,125.8:0,0,0:0,0,0:88,57,69:62,94,82:34,0,29:-,chr1 g.21755012C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 21755055 rs12024104 C A 202 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.3169,A/0.6831;NP=1439;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A,G:56:29:0:0:55,1:1759,32:201.58,1.94:92.94,0.00:108.63,1.94:1.00,0.00:1.00,0.00:1.00,0.00:43,43:92.5,180.0:0,0:0,0:91,141:59,8:37,0:chr1 g.21755054C>A (intergenic),chr1 g.21755054C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21755345 rs41302023 T C 546 nt VT=SNV;PN=C;NN=A;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.8578,C/0.1422;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:149:79:0:0:147,1,1:4792,14,33:546.40,0.17,0.00:221.69,-0.00,0.00:324.70,0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,60:61.3,106.0,35.0:0,0,0:0,0,0:82,12,49:62,138,92:38,0,0:chr1 g.21755344T>C (intergenic),chr1 g.21755344T>C (intergenic):0.15,0.15:NOT_FOUND,NOT_FOUND 1 21755408 rs41312003 A G 157 nt VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.9511,G/0.04892;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:39:0:0:47,51:1459,1627:0.00,157.44:0.00,44.47:0.00,112.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:56.5,95.5:0,0:0,0:91,95:60,56:34,17:-,chr1 g.21755407A>G (intergenic):-,0.07:-,NOT_FOUND 1 21755453 rs3856177 G A 273 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:75:15:0:0:74,1:2379,9:272.66,0.10:43.54,0.10:229.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,27:87.6,95.0:0,0:0,0:109,96:41,55:26,0:chr1 g.21755452G>A (intergenic),chr1 g.21755452G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21755517 rs41300136 C T 67 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.9415,T/0.05851;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:17:0:0:28,22:866,717:0.00,67.33:0.00,24.11:0.00,43.21:0.00,1.00:0.00,1.00:0.00,1.00:40,40:60.0,85.4:0,0:0,0:67,56:84,90:37,37:-,chr1 g.21755516C>T (intergenic):-,0.08:-,NOT_FOUND 1 21755539 rs3855556 C A 203 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.3121,A/0.6879;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A,C:58:27:0:0:56,2:1796,45:202.59,0.00:96.18,0.00:106.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:60.6,155.5:0,0:0,0:55,139:95,10:33,1:chr1 g.21755538C>A (intergenic),chr1 g.21755538C>A (intergenic):0.7,0.7:NOT_FOUND,NOT_FOUND 1 21755756 rs56343055 G C 452 nt VT=SNV;PN=A;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:122:74:0:0:122:3938:451.88:200.19:251.70:1.00:1.00:1.00:60:44.1:1:0:88:60:33:chr1 g.21755755G>C (intergenic),chr1 g.21755755G>C (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 1 21755867 rs7522332 A G 443 nt VT=SNV;PN=C;NN=C;SST=Single;DP=121;DB;DBA=NA;PAF=A/0.3115,G/0.6885;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:121:76:0:0:121:3853:442.79:206.23:236.56:1.00:1.00:1.00:54:72.3:0:0:64:86:41:chr1 g.21755866A>G (intergenic),chr1 g.21755866A>G (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 1 21755906 rs3738922 G A 403 nt VT=SNV;PN=C;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.3115,A/0.6885;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:110:76:0:0:109,1:3518,9:403.23,0.07:197.57,0.00:205.66,0.07:1.00,0.00:1.00,0.00:1.00,0.00:60,51:70.1,139.0:0,0:0,0:72,34:79,117:31,0:chr1 g.21755905G>A (intergenic),chr1 g.21755905G>A (intergenic):0.67,0.67:NOT_FOUND,NOT_FOUND 1 21756008 rs3894725 G T 318 nt VT=SNV;PN=A;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.3113,T/0.6887;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:89:43:0:0:1,1,87:12,9,2779:0.17,0.09,318.46:0.17,0.00,93.83:0.00,0.09,224.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,50,60:90.0,124.0,62.6:0,0,0:0,0,0:137,69,100:12,72,47:0,0,19:chr1 g.21756007G>T (intergenic),chr1 g.21756007G>T (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 1 21756069 rs7532750 G A 158 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.3113,A/0.6887;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A:44:4:0:0:44:1375:158.35:7.75:150.59:1.00:1.00:1.00:56:70.3:0:0:109:41:27:chr1 g.21756068G>A (intergenic),chr1 g.21756068G>A (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 1 21756158 rs201044198 G GA 37 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=9;PC=0.906;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,GA:13:0:12:0:1,12:23,332:0.00,37.29:0.00,0.00:0.00,37.29:0.00,1.00:0.00,0.00:0.00,1.00:51,51:107.0,55.6:1,0:0,0:105,99:46,52:0,25:chr1 g.21756158_21756159insA (intergenic),chr1 g.21756158_21756159insA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21756169 rs904937 C G 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3195,G/0.6805;PC=0.111 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:423:48.47:0.00:48.47:1.00:0.00:1.00:51:59.5:0:0:117:34:20:chr1 g.21756168C>G (intergenic),chr1 g.21756168C>G (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 1 21756199 rs199573679 T TG 17 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.414;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:T,TG:8:0:7:0:1,7:31,149:0.00,16.54:0.00,0.00:0.00,16.54:0.00,1.00:0.00,0.00:0.00,1.00:51,39:107.0,38.7:0,0:0,0:147,112:4,39:0,12:-,chr1 g.21756199_21756200insG (intergenic):-,0.45:-,NOT_FOUND 1 21759755 rs59498006 G GAC 15 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5048,GAC/0.4952;DB;DBA=NA;PAF=G/0.5048,GAC/0.4952;NP=1;NP=329;NP=5;PC=0.006;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GAC:4:3:4:0:4:128:14.71:9.19:5.52:1.00:1.00:1.00:60:20.8:0:0:96:54:11:NM_032264.3(NBPF3) c.-360-u6866_-360-u6865insAC,NM_032264.3(NBPF3) c.-360-u6866_-360-u6865insAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21763132 rs10916990 T A 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4734,A/0.5266;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:17:17:0:0:13,4:421,125:44.27,0.00:42.39,0.00:1.88,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:35.6,1.8:0,0:0,0:80,53:69,98:28,22:NM_032264.3(NBPF3) c.-360-u3489T>A,-:0.55,-:NOT_FOUND,- 1 21771344 rs3820597 G A 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5944,A/0.4056;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.-139-97G>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.-139-97G>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.-139-97G>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:10,7:259,216:25.62,0.00:25.62,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.1,43.6:0,0:0,0:70,40:80,110:47,35:NM_032264.3(NBPF3) c.-139-97G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 21771713 . G . . NT END=21792579;NT GT ./. 1 21776392 rs10737457 A C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4531,C/0.5469;PC=0.037;Gene=NBPF3/NM_001256416.2/1;CC=c.133+4680A>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.133+4680A>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.133+4680A>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:16:0:0:11,10:356,304:0.00,28.85:0.00,19.46:0.00,9.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:23.1,54.3:0,0:0,0:90,87:55,43:25,32:-,NM_032264.3(NBPF3) c.133+4680A>C:-,0.57:-,NOT_FOUND 1 21776413 rs71673877 CATTG C 14 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=520;PC=0.013;Gene=NBPF3/NM_001256416.2/1;CC=c.133+4720_133+4723delTGAT;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.133+4720_133+4723delTGAT;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.133+4720_133+4723delTGAT;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:CATTG,T,C:20:15:0:5:14,1,5:434,12,162:0.00,0.19,13.83:0.00,0.35,10.59:0.00,-0.16,3.24:0.00,0.00,0.85:0.00,0.00,0.97:0.00,0.00,0.59:60,60,70:27.7,58.0,71.8:0,0,0:0,0,0:110,148,98:32,3,53:20,0,14:-,NM_032264.3(NBPF3) c.133+4702_133+4705delATTG:-,NOT_FOUND:-,NOT_FOUND 1 21776463 rs6426690 A G 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.001797,G/0.9982;NP=14;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.133+4751A>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.133+4751A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.133+4751A>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:3:0:0:11:358:41.03:6.85:34.19:1.00:1.00:1.00:60:44.8:0:0:39:111:36:NM_032264.3(NBPF3) c.133+4751A>G,NM_032264.3(NBPF3) c.133+4751A>G:1,1:NOT_FOUND,NOT_FOUND 1 21778204 rs1814736 T A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3101,A/0.6899;PC=0.006;Gene=NBPF3/NM_001256416.2/1;CC=c.133+6492T>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.133+6492T>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.133+6492T>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,T:10:10:0:0:8,2:273,66:28.94,0.00:28.94,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.1,39.0:0,0:0,0:81,14:69,136:35,11:NM_032264.3(NBPF3) c.133+6492T>A,-:0.68,-:NOT_FOUND,- 1 21792650 . G . . NT END=21793488;NT GT ./. 1 21792702 rs10710110 CA C 54 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=NBPF3/NM_001256416.2/1;CC=c.134-2477delA;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-4421delA;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-2477delA;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:39:8:0:18:21,18:690,570:0.00,53.91:0.00,4.32:0.00,49.59:0.00,1.00:0.00,0.99:0.00,1.00:60,60:8.1,31.8:0,0:0,0:98,104:53,46:23,26:-,NM_032264.3(NBPF3) c.134-2478delA:-,0.22:-,NOT_FOUND 1 21792752 rs3968525 T C 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3219,A/.,C/0.6781;NP=477;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.134-2429T>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-4373T>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-2429T>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:1:0:0:9,13:289,379:26.73,0.00:-0.11,0.00:26.85,0.00:1.00,0.00:0.61,0.00:1.00,0.00:40,60:79.3,4.5:0,0:0,0:111,125:40,26:33,19:NM_032264.3(NBPF3) c.134-2429T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 21792753 rs3968524 C T 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3219,T/0.6781;NP=477;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.134-2428C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-4372C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-2428C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:1:0:0:13,9:391,279:0.00,25.74:0.00,-0.11:0.00,25.85:0.00,1.00:0.00,0.61:0.00,1.00:60,40:4.5,79.3:0,0:0,0:126,112:25,39:19,33:-,NM_032264.3(NBPF3) c.134-2428C>T:-,NOT_FOUND:-,NOT_FOUND 1 21793239 rs4654942 A T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.479,T/0.521;PC=0.008;Gene=NBPF3/NM_001256416.2/1;CC=c.134-1942A>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-3886A>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-1942A>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,T:4:4:0:0:1,3:11,67:0.00,7.14:0.00,7.14:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:44.0,70.7:0,0:0,0:11,87:140,64:0,39:-,NM_032264.3(NBPF3) c.134-1942A>T:-,NOT_FOUND:-,NOT_FOUND 1 21793302 rs4654943 C T 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=9;PC=0.011;Gene=NBPF3/NM_001256416.2/1;CC=c.134-1879C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-3823C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-1879C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C,T:13:13:0:0:1,3,9:10,103,253:0.37,0.00,26.53:0.37,0.00,26.53:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:44.0,3.7,46.0:0,0,0:0,0,0:74,29,42:77,122,108:0,18,20:-,NM_032264.3(NBPF3) c.134-1879C>T:-,NOT_FOUND:-,NOT_FOUND 1 21793803 . G . . NT END=21794933;NT GT ./. 1 21793899 rs3968523 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=20;PC=0.025;Gene=NBPF3/NM_001256416.2/1;CC=c.134-1282T>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-3226T>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-1282T>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:C,T:71:23:0:0:6,65:215,1973:15.44,0.00:8.56,0.00:6.88,0.00:0.79,0.00:0.75,0.00:0.98,0.00:33,60:43.0,18.1:0,0:0,0:101,104:49,41:5,35:NM_032264.3(NBPF3) c.134-1282T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 21793958 rs2316505 C T 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.009;Gene=NBPF3/NM_001256416.2/1;CC=c.134-1223C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-3167C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-1223C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:3:0:0:19,15:650,471:0.00,44.11:0.00,1.51:0.00,42.60:0.00,1.00:0.00,0.84:0.00,1.00:60,60:26.9,38.3:0,0:0,0:107,87:44,56:28,48:-,NM_032264.3(NBPF3) c.134-1223C>T:-,0.75:-,NOT_FOUND 1 21794061 rs17420195 C T 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9215,T/0.07847;PC=0.002;Gene=NBPF3/NM_001256416.2/1;CC=c.134-1120C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-3064C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-1120C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:14:1:0:0:1,7,6:10,219,198:0.23,0.00,18.75:-0.02,0.00,-0.12:0.25,0.00,18.88:0.00,0.00,0.96:0.00,0.00,0.62:0.00,0.00,0.96:60,60,60:131.0,31.3,35.2:0,0,0:0,0,0:10,112,89:140,39,60:0,18,41:-,NM_032264.3(NBPF3) c.134-1120C>T:-,0.1:-,NOT_FOUND 1 21794612 rs7541779 G T 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.25,T/0.75;Gene=NBPF3/NM_001256416.2/1;CC=c.134-569G>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.134-2513G>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.134-569G>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:G,T:13:12:0:0:10,3:336,89:0.00,7.28:0.00,7.40:0.00,-0.11:0.00,0.58:0.00,0.92:0.00,0.49:60,60:4.5,84.7:0,0:0,0:56,23:94,114:15,3:-,NM_032264.3(NBPF3) c.134-569G>T:-,0.71:-,NOT_FOUND 1 21795079 . G . . NT END=21795180;NT GT ./. 1 21795388 rs1827293 A G 86 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.5761,G/0.4239;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.341A>G;ProtCh=p.Y114C;VC=Missense;Gene=NBPF3/NM_001256417.2/0;CC=c.134-1737A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.341A>G;ProtCh=p.Y114C;VC=Missense;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:68:22:0:0:40,27,1:1210,928,8:0.00,86.07,-0.17:0.00,13.89,0.02:0.00,72.17,-0.20:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.8,39.7,27.0:0,0,0:0,0,0:108,95,102:41,56,49:21,25,0:-,NM_032264.3(NBPF3) c.341A>G (p.Tyr114Cys):-,0.46:-,0.440258 1 21795391 . G . . NT END=21797124;NT GT ./. 1 21797228 . G . . NT END=21798169;NT GT ./. 1 21797419 rs4654944 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2504,C/0.7496;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.446+192T>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.236+192T>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.446+192T>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:10:0:0:0:3,7:104,223:9.18,0.00:0.00,0.00:9.18,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:64.0,0.0:0,0:0,0:115,135:36,16:10,7:NM_032264.3(NBPF3) c.446+192T>C,-:0.74,-:NOT_FOUND,- 1 21797996 rs2004380 G A 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5761,A/0.4239;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.447-66G>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.237-66G>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.447-66G>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:21:0:0:13,9:374,282:37.12,0.00:31.80,0.00:5.32,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:45.5,17.4:0,0:0,0:59,14:92,136:25,11:NM_032264.3(NBPF3) c.447-66G>A,-:0.46,-:NOT_FOUND,- 1 21798277 . G . . NT END=21799335;NT GT ./. 1 21799409 . G . . NT END=21799872;NT GT ./. 1 21799489 rs1971327 T C 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.2504,C/0.7496;Gene=NBPF3/NM_001256416.2/1;CC=c.734+81T>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.524+81T>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.734+81T>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:5:0:0:13,11:403,365:39.31,0.00:12.32,0.00:26.99,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:33.5,0.5:0,0:0,0:85,101:66,50:51,40:NM_032264.3(NBPF3) c.734+81T>C,-:0.74,-:NOT_FOUND,- 1 21799823 rs1971328 A G 162 nt VT=SNV;PN=A;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.2935,G/0.7065;PC=0.037;Gene=NBPF3/NM_001256416.2/1;CC=c.735-50A>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.525-50A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.735-50A>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:105:95:0:0:52,1,52:1670,7,1686:0.00,-0.18,162.05:0.00,-0.13,115.70:0.00,-0.05,46.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.8,73.0,40.8:0,0,0:0,0,0:41,138,40:109,-21,104:30,0,23:-,NM_032264.3(NBPF3) c.735-50A>G:-,0.64:-,0.643549 1 21800079 . G . . NT END=21801392;NT GT ./. 1 21800185 rs7520015 T G 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.2504,G/0.7496;Gene=NBPF3/NM_001256416.2/1;CC=c.940+107T>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.730+107T>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.940+107T>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:22:0:0:0:8,14:234,444:20.94,0.00:0.00,0.00:20.94,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:46.6,6.6:0,0:0,0:119,106:26,45:19,31:NM_032264.3(NBPF3) c.940+107T>G,-:0.74,-:NOT_FOUND,- 1 21800219 rs10916996 C T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.2935,T/0.7065;Gene=NBPF3/NM_001256416.2/1;CC=c.940+141C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.730+141C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.940+141C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:15:0:0:0:11,4:339,134:0.00,11.53:0.00,0.00:0.00,11.53:0.00,0.76:0.00,0.00:0.00,0.76:60,60:4.7,68.0:0,0:0,0:109,125:41,24:28,14:-,NM_032264.3(NBPF3) c.940+141C>T:-,0.69:-,NOT_FOUND 1 21801346 rs7531217 G A 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.2504,A/0.7496;PC=0.136;Gene=NBPF3/NM_001256416.2/1;CC=c.941-47G>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.731-47G>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.941-47G>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:36:0:0:21,20:644,667:62.06,0.00:44.78,0.00:17.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,2.8:0,0:0,0:46,46:98,98:29,21:NM_032264.3(NBPF3) c.941-47G>A,-:0.74,-:0.708596,- 1 21801445 . G . . NT END=21804561;NT GT ./. 1 21804801 . G . . NT END=21805841;NT GT ./. 1 21804815 rs7535654 T G 209 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.05791,A/.,G/0.9421;Gene=NBPF3/NM_001256416.2/1;CC=c.1120+126T>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.946+15T>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1156+15T>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:G:55:17:0:0:55:1824:208.52:40.22:168.30:1.00:1.00:1.00:60:39.3:0:0:79:68:35:NM_032264.3(NBPF3) c.1156+15T>G,NM_032264.3(NBPF3) c.1156+15T>G:0.95,0.95:0.935953,0.935953 1 21805048 rs4654947 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2512,T/0.7488;Gene=NBPF3/NM_001256416.2/1;CC=c.1120+359C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.946+248C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1156+248C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T:4:0:0:0:1,3:10,100:0.00,10.50:0.00,0.00:0.00,10.50:0.00,0.85:0.00,0.00:0.00,0.85:60,60:105.0,35.7:0,0:0,0:62,100:87,51:0,11:-,NM_032264.3(NBPF3) c.1156+248C>T:-,0.75:-,NOT_FOUND 1 21805730 rs2316504 A G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.2502,G/0.7498;PC=0.001;Gene=NBPF3/NM_001256416.2/1;CC=c.1121-112A>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.947-112A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1157-112A>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:31:0:0:19,12:595,377:0.00,34.42:0.00,34.74:0.00,-0.32:0.00,1.00:0.00,1.00:0.00,0.79:60,60:4.7,34.6:0,0:0,0:46,53:104,98:21,22:-,NM_032264.3(NBPF3) c.1157-112A>G:-,0.74:-,NOT_FOUND 1 21805894 . G . . NT END=21806543;NT GT ./. 1 21805978 rs4654948 G A 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.2508,A/0.7492;PC=0.005;Gene=NBPF3/NM_001256416.2/1;CC=c.1172+85G>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.998+85G>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1208+85G>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:1:0:0:19,18:571,575:55.00,0.00:-0.31,0.00:55.31,0.00:1.00,0.00:0.68,0.00:1.00,0.00:60,60:34.2,12.8:0,0:0,0:112,94:39,57:29,42:NM_032264.3(NBPF3) c.1208+85G>A,-:0.74,-:NOT_FOUND,- 1 21806315 rs61775949 G C 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=156;PC=0.002;Gene=NBPF3/NM_001256416.2/1;CC=c.1173-229G>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.999-229G>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1209-229G>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:16:0:2:9,7:257,238:25.19,0.00:25.19,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:65.8,60.3:0,0:0,0:21,73:116,78:12,9:NM_032264.3(NBPF3) c.1209-229G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 21806337 rs147900768 G A 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.9473,A/0.05272;PC=0.010;Gene=NBPF3/NM_001256416.2/1;CC=c.1173-207G>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.999-207G>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1209-207G>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:33:0:0:20,13:507,435:50.36,0.00:50.36,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.5,72.5:0,0:0,0:25,25:123,126:17,24:NM_032264.3(NBPF3) c.1209-207G>A,-:0.07,-:NOT_FOUND,- 1 21806341 rs79760554 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.006;Gene=NBPF3/NM_001256416.2/1;CC=c.1173-203G>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.999-203G>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1209-203G>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G:34:34:0:0:8,26:212,777:16.98,0.00:16.98,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:88.6,47.1:0,0:0,0:18,41:133,109:8,31:NM_032264.3(NBPF3) c.1209-203G>A,-:0.37,-:NOT_FOUND,- 1 21806347 rs59775986 A G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=5;Gene=NBPF3/NM_001256416.2/1;CC=c.1173-197A>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.999-197A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1209-197A>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,C,G:36:36:0:0:31,1,4:792,12,119:0.00,-0.03,8.46:0.00,-0.03,8.46:0.00,0.00,0.00:0.00,0.00,0.95:0.00,0.00,0.95:0.00,0.00,0.00:60,60,37:58.1,58.0,43.2:0,0,0:0,0,0:25,99,109:126,29,6:14,0,6:-,NM_032264.3(NBPF3) c.1209-197A>G:-,NOT_FOUND:-,NOT_FOUND 1 21806447 rs3820296 T C 187 nt VT=SNV;PN=C;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=T/0.5759,C/0.4241;PC=0.003;Gene=NBPF3/NM_001256416.2/1;CC=c.1173-97T>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.999-97T>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1209-97T>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:141:140:0:0:65,76:1983,2602:186.96,0.00:172.73,0.00:14.23,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:47.8,17.1:0,0:0,0:36,37:115,112:25,31:NM_032264.3(NBPF3) c.1209-97T>C,-:0.43,-:NOT_FOUND,- 1 21806619 rs3820294 T C 84 lc VT=SNV;PN=C;NN=T;SST=Single;DP=187;DB;DBA=NA;PAF=T/0.8049,C/0.1951;Gene=NBPF3/NM_001256416.2/1;CC=c.1248T>C;ProtCh=p.P416=;VC=Silent;Gene=NBPF3/NM_001256417.2/0;CC=c.1074T>C;ProtCh=p.P358=;VC=Silent;Gene=NBPF3/NM_032264.4/0;CC=c.1284T>C;ProtCh=p.P428=;VC=Silent;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:187:94:0:0:33,1,153:1062,21,5109:84.22,0.12,0.00:11.42,-0.13,0.00:72.80,0.25,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,56,60:90.9,21.0,8.8:0,0,0:0,0,0:127,53,90:24,97,59:10,0,36:NM_032264.3(NBPF3) c.1284T>C (p.(=)),-:0.24,-:NOT_FOUND,- 1 21806621 rs3820293 T G 69 lc VT=SNV;PN=T;NN=T;SST=Single;DP=180;DB;DBA=NA;PAF=T/0.8049,C/.,G/0.1951;Gene=NBPF3/NM_001256416.2/1;CC=c.1250T>G;ProtCh=p.F417C;VC=Missense;Gene=NBPF3/NM_001256417.2/0;CC=c.1076T>G;ProtCh=p.F359C;VC=Missense;Gene=NBPF3/NM_032264.4/0;CC=c.1286T>G;ProtCh=p.F429C;VC=Missense;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:180:88:0:0:29,151:900,4797:69.42,0.00:2.40,0.00:67.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:97.4,8.4:0,0:0,0:127,84:24,64:8,37:NM_032264.3(NBPF3) c.1286T>G (p.Phe429Cys),-:0.25,-:NOT_FOUND,- 1 21806624 rs3820292 A G 72 lc VT=SNV;PN=G;NN=G;SST=Single;DP=176;DB;DBA=NA;PAF=A/0.8049,G/0.1951;Gene=NBPF3/NM_001256416.2/1;CC=c.1253A>G;ProtCh=p.E418G;VC=Missense;Gene=NBPF3/NM_001256417.2/0;CC=c.1079A>G;ProtCh=p.E360G;VC=Missense;Gene=NBPF3/NM_032264.4/0;CC=c.1289A>G;ProtCh=p.E430G;VC=Missense;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:176:84:0:0:146,1,29:4809,14,927:0.00,-0.23,72.43:0.00,0.01,2.77:0.00,-0.24,69.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,56:6.8,205.0,99.4:0,0,0:0,0,0:75,146,130:75,5,21:37,0,8:-,NM_032264.3(NBPF3) c.1289A>G (p.Glu430Gly):-,0.25:-,NOT_FOUND 1 21806667 rs12043777 C G 25 sb,lc VT=SNV;PN=A;NN=T;SST=Single;DP=143;DB;DBA=NA;PAF=NA;Gene=NBPF3/NM_001256416.2/1;CC=c.1296C>G;ProtCh=p.D432E;VC=Missense;Gene=NBPF3/NM_001256417.2/0;CC=c.1122C>G;ProtCh=p.D374E;VC=Missense;Gene=NBPF3/NM_032264.4/0;CC=c.1332C>G;ProtCh=p.D444E;VC=Missense;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,C,G:143:52:0:0:1,131,11:9,4384,370:-0.34,0.00,25.46:-0.11,0.00,-1.29:-0.23,0.00,26.74:0.00,0.00,0.98:0.00,0.00,0.94:0.00,0.00,1.00:40,60,40:87.0,7.1,92.3:0,0,0:0,0,0:40,75,29:111,68,122:0,30,15:-,NM_032264.3(NBPF3) c.1332C>G (p.Asp444Glu):-,0.32:-,0.133184 1 21806710 rs12034222 T G 45 sb,lc VT=SNV;PN=C;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=NA;Gene=NBPF3/NM_001256416.2/1;CC=c.1339T>G;ProtCh=p.L447V;VC=Missense;Gene=NBPF3/NM_001256417.2/0;CC=c.1165T>G;ProtCh=p.L389V;VC=Missense;Gene=NBPF3/NM_032264.4/0;CC=c.1375T>G;ProtCh=p.L459V;VC=Missense;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:132:33:0:0:18,114:592,3715:45.02,0.00:1.32,0.00:43.71,0.00:1.00,0.00:0.97,0.00:1.00,0.00:44,60:97.7,7.2:0,0:0,0:55,102:95,46:21,27:NM_032264.3(NBPF3) c.1375T>G (p.Leu459Val),-:0.47,-:0.143862,- 1 21806717 . G . . NT END=21807422;NT GT ./. 1 21806792 rs56286426 C T 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.6699,T/0.3301;PC=0.010;Gene=NBPF3/NM_001256416.2/1;CC=c.1345+76C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1171+76C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1381+76C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:7:0:0:51,13:1589,432:0.00,35.39:0.00,2.74:0.00,32.65:0.00,1.00:0.00,0.76:0.00,1.00:60,39:3.8,101.2:0,0:0,0:101,117:50,33:26,15:-,NM_032264.3(NBPF3) c.1381+76C>T:-,0.31:-,NOT_FOUND 1 21806821 rs2800935 A G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.2546,G/0.7454;Gene=NBPF3/NM_001256416.2/1;CC=c.1345+105A>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1171+105A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1381+105A>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,G:44:4:0:0:37,7:1156,222:0.00,17.17:0.00,1.87:0.00,15.30:0.00,0.93:0.00,0.51:0.00,1.00:60,39:3.8,97.7:0,0:0,0:102,139:48,12:28,7:-,NM_032264.3(NBPF3) c.1381+105A>G:-,0.58:-,NOT_FOUND 1 21807273 rs61775950 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=NBPF3/NM_001256416.2/1;CC=c.1346-150A>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1172-150A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1382-150A>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,G:13:12:0:0:7,6:217,159:0.00,14.86:0.00,15.26:0.00,-0.40:0.00,0.97:0.00,1.00:0.00,0.76:49,60:0.0,33.0:0,0:0,0:29,120:122,30:27,27:-,NM_032264.3(NBPF3) c.1382-150A>G:-,0.6:-,NOT_FOUND 1 21807367 rs201117263 TA T 26 nt VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=4;PC=0.048;Gene=NBPF3/NM_001256416.2/1;CC=c.1346-54delA;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1172-54delA;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1382-54delA;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:48:39:0:17:31,17:968,315:0.00,25.93:0.00,20.79:0.00,5.14:0.00,1.00:0.00,1.00:0.00,1.00:60,51:8.0,27.1:0,0:0,0:43,25:106,126:23,24:-,NM_032264.3(NBPF3) c.1382-55delA:-,0.31:-,0.203302 1 21807405 rs146754754 T A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=212;PC=0.252;Gene=NBPF3/NM_001256416.2/1;CC=c.1346-18T>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1172-18T>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1382-18T>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:87:75:0:0:15,1,71:509,5,2339:40.78,-0.32,0.00:22.70,-0.24,0.00:18.08,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,55,60:35.3,118.0,7.7:0,0,0:0,0,0:16,98,37:134,52,93:11,0,22:NM_032264.3(NBPF3) c.1382-18T>A,-:0.01,-:NOT_FOUND,- 1 21807475 . G . . NT END=21808089;NT GT ./. 1 21807521 rs56246814 A T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=1243;PC=0.069;Gene=NBPF3/NM_001256416.2/1;CC=c.1397+47A>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1223+47A>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1433+47A>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,T:67:35:0:0:58,9:1898,294:0.00,22.22:0.00,7.04:0.00,15.19:0.00,0.97:0.00,0.97:0.00,1.00:43,42:13.1,44.8:0,0:0,0:107,111:40,40:17,23:-,NM_032264.3(NBPF3) c.1433+47A>T:-,0.24:-,NOT_FOUND 1 21807864 rs78885464 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5927,G/0.4073;Gene=NBPF3/NM_001256416.2/1;CC=c.1398-226A>G;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1224-226A>G;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1434-226A>G;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,G:6:5:0:0:3,3:96,94:0.00,9.02:0.00,5.35:0.00,3.68:0.00,0.73:0.00,0.96:0.00,0.67:57,43:33.3,44.3:0,0:0,0:16,17:134,134:7,3:-,NM_032264.3(NBPF3) c.1434-226A>G:-,0.28:-,NOT_FOUND 1 21808159 rs71512991 G A 53 lc VT=SNV;PN=C;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.5329,A/0.4671;NP=3061;Gene=NBPF3/NM_001256416.2/1;CC=c.1467G>A;ProtCh=p.S489=;VC=Silent;Gene=NBPF3/NM_001256417.2/0;CC=c.1293G>A;ProtCh=p.S431=;VC=Silent;Gene=NBPF3/NM_032264.4/0;CC=c.1503G>A;ProtCh=p.S501=;VC=Silent;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:47:0:0:19,59:625,1863:52.77,0.00:18.21,0.00:34.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:76.5,6.6:0,0:0,0:89,75:62,74:16,33:NM_032264.3(NBPF3) c.1503G>A (p.(=)),-:0.49,-:NOT_FOUND,- 1 21808207 rs146564096 A C 48 lc VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=2361;PC=0.002;Gene=NBPF3/NM_001256416.2/1;CC=c.1515A>C;ProtCh=p.G505=;VC=Silent;Gene=NBPF3/NM_001256417.2/0;CC=c.1341A>C;ProtCh=p.G447=;VC=Silent;Gene=NBPF3/NM_032264.4/0;CC=c.1551A>C;ProtCh=p.G517=;VC=Silent;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:27:0:0:47,16:1453,556:0.00,47.74:0.00,15.47:0.00,32.28:0.00,1.00:0.00,1.00:0.00,1.00:43,43:5.5,94.1:0,0:0,0:102,119:49,29:28,13:-,NM_032264.3(NBPF3) c.1551A>C (p.(=)):-,0.53:-,NOT_FOUND 1 21808223 rs145079058 T C 35 lc VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=NA;Gene=NBPF3/NM_001256416.2/1;CC=c.1531T>C;ProtCh=p.L511=;VC=Silent;Gene=NBPF3/NM_001256417.2/0;CC=c.1357T>C;ProtCh=p.L453=;VC=Silent;Gene=NBPF3/NM_032264.4/0;CC=c.1567T>C;ProtCh=p.L523=;VC=Silent;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:16:0:0:13,45:424,1442:35.21,0.00:5.71,0.00:29.49,0.00:1.00,0.00:0.96,0.00:1.00,0.00:43,43:101.5,6.2:0,0:0,0:127,102:17,49:13,34:NM_032264.3(NBPF3) c.1567T>C (p.(=)),-:0.54,-:NOT_FOUND,- 1 21808263 . G . . NT END=21809635;NT GT ./. 1 21808281 rs2261579 G A 7 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4836,A/0.5164;PC=0.005;Gene=NBPF3/NM_001256416.2/1;CC=c.1570+19G>A;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1396+19G>A;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1606+19G>A;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:29:8:0:0:3,26:93,849:6.55,0.00:-0.21,0.00:6.76,0.00:0.43,0.00:0.53,0.00:0.88,0.00:15,43:97.3,15.8:0,0:0,0:60,112:91,32:56,23:NM_032264.3(NBPF3) c.1606+19G>A,-:0.47,-:NOT_FOUND,- 1 21808307 rs146767219 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7218,T/0.2782;Gene=NBPF3/NM_001256416.2/1;CC=c.1570+45C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1396+45C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1606+45C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:22:4:0:0:19,3:589,97:0.00,7.33:0.00,-0.13:0.00,7.45:0.00,0.48:0.00,0.45:0.00,0.48:43,27:9.1,63.7:0,0:0,0:95,30:55,120:22,26:-,NM_032264.3(NBPF3) c.1606+45C>T:-,0.34:-,NOT_FOUND 1 21809436 rs199855186 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5781,T/0.4219;NP=223;Gene=NBPF3/NM_001256416.2/1;CC=c.1623-200C>T;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1449-200C>T;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1659-200C>T;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:10:10:0:0:4,6:97,137:0.00,13.56:0.00,13.56:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:43,40:35.2,94.3:0,0:0,0:59,50:92,101:28,17:-,NM_032264.3(NBPF3) c.1659-200C>T:-,NOT_FOUND:-,NOT_FOUND 1 21809524 rs71512993 A C 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=2438;Gene=NBPF3/NM_001256416.2/1;CC=c.1623-112A>C;VC=Intron;Gene=NBPF3/NM_001256417.2/0;CC=c.1449-112A>C;VC=Intron;Gene=NBPF3/NM_032264.4/0;CC=c.1659-112A>C;VC=Intron;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:45:43:0:0:25,20:809,617:0.00,57.78:0.00,46.99:0.00,10.79:0.00,1.00:0.00,1.00:0.00,1.00:59,52:10.2,44.5:0,0:0,0:34,24:116,126:17,18:-,NM_032264.3(NBPF3) c.1659-112A>C:-,NOT_FOUND:-,NOT_FOUND 1 21809750 rs202069483 T C 28 lc VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=2071;Gene=NBPF3/NM_001256416.2/1;CC=c.1737T>C;ProtCh=p.Y579=;VC=Silent;Gene=NBPF3/NM_001256417.2/0;CC=c.1563T>C;ProtCh=p.Y521=;VC=Silent;Gene=NBPF3/NM_032264.4/0;CC=c.1773T>C;ProtCh=p.Y591=;VC=Silent;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:15:0:0:10,40:345,1303:28.41,0.00:1.91,0.00:26.50,0.00:0.99,0.00:0.55,0.00:1.00,0.00:40,46:35.2,9.8:0,0:0,0:99,87:50,61:12,40:NM_032264.3(NBPF3) c.1773T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 21809880 . G . . NT END=21880574;NT GT ./. 1 21809924 rs200210375 G C 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1772;PC=0.018;Gene=NBPF3/NM_001256416.2/1;CC=c.*45G>C;VC=3UTR;Gene=NBPF3/NM_001256417.2/0;CC=c.*45G>C;VC=3UTR;Gene=NBPF3/NM_032264.4/0;CC=c.*45G>C;VC=3UTR;Gene=NBPF3/NR_046176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:205:23.36:0.00:23.36:1.00:0.00:1.00:39:41.3:0:0:105:46:20:NM_032264.3(NBPF3) c.*45G>C,NM_032264.3(NBPF3) c.*45G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21822676 rs200400380 A AGTGTGTGTGTGTGT 14 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=56;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,AGTGTGTGTGTGTGT:5:4:5:0:1,4:31,159:0.00,14.03:0.00,5.16:0.00,8.86:0.00,0.93:0.00,0.99:0.00,0.99:60,70:35.0,20.8:0,1:0,0:96,55:38,59:0,36:-,chr1 g.21822676_21822677insGTGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 21880636 . G . . NT END=21887118;NT GT ./. 1 21880818 rs71845886 C CATCT 8 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4203,CAT/.,CATAT/0.5797;DB;DBA=NA;PAF=NA;NP=19;Gene=ALPL/NM_000478.4/1;CC=c.61+185_61+186insCTAT;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.-104-6299_-104-6298insCTAT;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.-54-6299_-54-6298insCTAT;VC=Intron;DM=ALPL/Alk_phosphatase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CATCT:4:0:5:0:1,3:35,141:0.00,8.22:0.00,0.00:0.00,8.22:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,15.7:0,2:0,0:127,82:16,68:0,21:-,NM_000478.4(ALPL) c.61+183_61+184insATCT:-,NOT_FOUND:-,NOT_FOUND 1 21887239 . G . . NT END=21887589;NT GT ./. 1 21887290 rs1767430 C A 85 nt VT=SNV;PN=G;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.738,A/0.262,G/.;Gene=ALPL/NM_000478.4/1;CC=c.181+52C>A;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.16+52C>A;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.66+52C>A;VC=Intron;DM=ALPL/Alk_phosphatase;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:49:22:0:0:28,21:861,636:84.97,0.00:18.39,0.00:66.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.1,11.2:0,0:0,0:116,109:27,38:22,19:NM_000478.4(ALPL) c.181+52C>A,-:0.29,-:0.347222,- 1 21887706 . G . . NT END=21889602;NT GT ./. 1 21889506 rs1256336 C T 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.8173,T/0.1827;Gene=ALPL/NM_000478.4/1;CC=c.298-97C>T;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.133-97C>T;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.67-97C>T;VC=Intron;DM=ALPL/Alk_phosphatase;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:32:0:0:21,11:695,340:0.00,30.31:0.00,25.75:0.00,4.55:0.00,1.00:0.00,1.00:0.00,0.93:60,60:10.6,59.7:0,0:0,0:71,58:80,89:16,17:-,NM_000478.4(ALPL) c.298-97C>T:-,0.19:-,NOT_FOUND 1 21889635 rs1780316 T C 454 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.07049,C/0.9295;PC=0.006;Gene=ALPL/NM_000478.4/1;CC=c.330T>C;ProtCh=p.S110=;VC=Silent;Gene=ALPL/NM_001127501.2/0;CC=c.165T>C;ProtCh=p.S55=;VC=Silent;Gene=ALPL/NM_001177520.1/0;CC=c.99T>C;ProtCh=p.S33=;VC=Silent;DM=ALPL/Alk_phosphatase;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:117:100:0:0:117:3978:453.53:288.58:164.96:1.00:1.00:1.00:60:39.7:0:0:62:81:35:NM_000478.4(ALPL) c.=,NM_000478.4(ALPL) c.=:0.94,0.94:0.921728,0.921728 1 21889778 . G . . NT END=21890533;NT GT ./. 1 21889784 rs35423948 CG C 122 nt VT=DEL;SST=Single;DP=109;DB;DBA=NA;PAF=CG/0.9195,C/0.08047;NP=801;PC=0.007;Gene=ALPL/NM_000478.4/1;CC=c.472+12delG;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.307+12delG;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.241+12delG;VC=Intron;DM=ALPL/Alk_phosphatase;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,C:109:55:0:43:66,43:2057,1328:0.00,121.58:0.00,43.37:0.00,78.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,5.5:0,0:0,0:106,95:42,41:28,21:-,NM_000478.4(ALPL) c.472+8delG:-,0.1:-,0.152549 1 21890386 rs1256335 G A 81 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1701,A/0.8299;Gene=ALPL/NM_000478.4/1;CC=c.473-148G>A;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.308-148G>A;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.242-148G>A;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:22:0:0:23:703:81.19:77.61:3.58:1.00:1.00:1.00:60:69.6:0:0:25:125:19:NM_000478.4(ALPL) c.473-148G>A,NM_000478.4(ALPL) c.473-148G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 21890464 rs1767428 A G 175 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.01358,G/0.9864;Gene=ALPL/NM_000478.4/1;CC=c.473-70A>G;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.308-70A>G;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.242-70A>G;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:G:49:47:0:0:49:1517:174.94:150.38:24.56:1.00:1.00:1.00:60:56.8:0:0:50:99:33:NM_000478.4(ALPL) c.473-70A>G,NM_000478.4(ALPL) c.473-70A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 21890710 . G . . NT END=21894596;NT GT ./. 1 21894741 . G . . NT END=21896797;NT GT ./. 1 21895008 rs1256331 C T 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9187,T/0.08127;PC=0.405;Gene=ALPL/NM_000478.4/1;CC=c.792+268C>T;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.627+268C>T;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.561+268C>T;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G,T:10:0:0:0:1,9:15,246:1.00,28.38:0.00,0.00:1.00,28.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:128.0,51.9:0,0:0,0:81,132:70,19:0,15:NM_000478.4(ALPL) c.792+268C>T,NM_000478.4(ALPL) c.792+268C>T:0.12,0.12:NOT_FOUND,NOT_FOUND 1 21895061 rs1256330 T C 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ALPL/NM_000478.4/1;CC=c.792+321T>C;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.627+321T>C;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.561+321T>C;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:137:16.03:0.00:16.03:1.00:0.00:1.00:60:88.6:0:0:109:42:25:NM_000478.4(ALPL) c.792+321T>C,NM_000478.4(ALPL) c.792+321T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 21896868 . G . . NT END=21900157;NT GT ./. 1 21899927 rs12732102 C G 19 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8812,G/0.1188;PC=0.001;Gene=ALPL/NM_000478.4/1;CC=c.863-231C>G;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.698-231C>G;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.632-231C>G;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:71.4:4:0:47:104:13:NM_000478.4(ALPL) c.863-231C>G,NM_000478.4(ALPL) c.863-231C>G:0.16,0.16:NOT_FOUND,NOT_FOUND 1 21900293 . G . . NT END=21900534;NT GT ./. 1 21900420 rs2275370 A G 311 nt VT=SNV;PN=T;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.2466,G/0.7534;Gene=ALPL/NM_000478.4/1;CC=c.997+128A>G;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.832+128A>G;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.766+128A>G;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:87:43:0:0:87:2694:310.74:145.67:165.06:1.00:1.00:1.00:60:69.4:0:0:68:83:45:NM_000478.4(ALPL) c.997+128A>G,NM_000478.4(ALPL) c.997+128A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 21900459 rs35488260 A C 348 nt VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.8812,C/0.1188;PC=0.082;Gene=ALPL/NM_000478.4/1;CC=c.997+167A>C;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.832+167A>C;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.766+167A>C;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:101:64:0:0:100,1:3013,8:348.33,0.06:188.62,0.00:159.71,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.4,213.0:0,0:0,0:55,29:95,122:33,0:NM_000478.4(ALPL) c.997+167A>C,NM_000478.4(ALPL) c.997+167A>C:0.16,0.16:NOT_FOUND,NOT_FOUND 1 21900721 . t . . NT END=21902225;NT GT ./. 1 21900891 rs1767447 G A 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.05871,A/0.9413;Gene=ALPL/NM_000478.4/1;CC=c.997+599G>A;VC=Intron;Gene=ALPL/NM_001127501.2/0;CC=c.832+599G>A;VC=Intron;Gene=ALPL/NM_001177520.1/0;CC=c.766+599G>A;VC=Intron;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:0:0:0:14:399:46.47:0.00:46.47:1.00:0.00:1.00:60:38.4:0:0:124:26:12:NM_000478.4(ALPL) c.997+599G>A,NM_000478.4(ALPL) c.997+599G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 21902418 . G . . NT END=21903014;NT GT ./. 1 21902764 rs61778394 G A,T 15 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5817,A/0.4183;NP=1;DM=ALPL/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,T:5:5:0:1:4,1:132,10:14.72,0.79:14.72,0.79:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:44.5,48.0:3,0:0,0:23,117:128,34:11,0:NM_000478.4(ALPL) c.1190-251G>A,NM_000478.4(ALPL) c.1190-251G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21903135 . G . . NT END=21903875;NT GT ./. 1 21904142 . G . . NT END=21924212;NT GT ./. 1 21904206 rs1697405 C T 93 nt VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.137;Gene=ALPL/NM_000478.4/1;CC=c.*65C>T;VC=3UTR;Gene=ALPL/NM_001127501.2/0;CC=c.*65C>T;VC=3UTR;Gene=ALPL/NM_001177520.1/0;CC=c.*65C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:16:0:0:36,32:1125,987:0.00,93.49:0.00,15.99:0.00,77.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.6,57.8:0,0:0,0:108,94:41,55:26,31:-,NM_000478.4(ALPL) c.*65C>T:-,0.32:-,NOT_FOUND 1 21904262 rs140511985 AC A 41 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=AC/0.9772,A/0.02276;NP=9;PC=0.996;Gene=ALPL/NM_000478.4/1;CC=c.*124delC;VC=3UTR;Gene=ALPL/NM_001127501.2/0;CC=c.*124delC;VC=3UTR;Gene=ALPL/NM_001177520.1/0;CC=c.*124delC;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,C,A:38:2:0:14:23,1,14:602,9,448:0.00,-0.08,40.86:0.00,-0.01,3.34:0.00,-0.07,37.52:0.00,0.00,1.00:0.00,0.00,0.67:0.00,0.00,1.00:60,60,60:66.0,58.0,42.2:0,0,0:0,0,0:101,45,109:50,106,40:26,0,27:-,NM_000478.4(ALPL) c.*122C[2]:-,0.03:-,NOT_FOUND 1 21904267 rs1697406 A G 130 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.1318,G/0.8682;PC=0.287;Gene=ALPL/NM_000478.4/1;CC=c.*126A>G;VC=3UTR;Gene=ALPL/NM_001127501.2/0;CC=c.*126A>G;VC=3UTR;Gene=ALPL/NM_001177520.1/0;CC=c.*126A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:2:0:0:37:1125:130.07:6.02:124.05:1.00:1.00:1.00:60:54.7:14:0:99:52:33:NM_000478.4(ALPL) c.*126A>G,NM_000478.4(ALPL) c.*126A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 21924222 . C . . NT END=21924453;NT GT ./. 1 21924558 . C . . NT END=21924892;NT GT ./. 1 21924996 . C . . NT END=21925986;NT GT ./. 1 21925077 rs61775975 C T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9197,T/0.08027;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1969-82G>A;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1855-82G>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1777-82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:10:2:0:0:5,5:161,158:0.00,15.18:0.00,-0.45:0.00,15.63:0.00,0.95:0.00,0.79:0.00,1.00:60,60:15.2,46.2:0,0:0,0:121,125:30,26:16,25:-,NM_001145657.1(RAP1GAP) c.1855-82G>A:-,0.07:-,NOT_FOUND 1 21925108 rs2794278 T C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.06689,C/0.9331;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1969-113A>G;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1855-113A>G;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1777-113A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:52.3:0:0:118:32:19:NM_001145657.1(RAP1GAP) c.1855-113A>G,NM_001145657.1(RAP1GAP) c.1855-113A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 21925657 rs1681257 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.0645,T/0.9355;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1968+330G>A;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1854+330G>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1776+330G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:7:7:0:0:1,6:13,171:0.95,19.55:0.95,19.55:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:54.0,56.8:0,0:0,0:146,38:4,110:0,32:NM_001145657.1(RAP1GAP) c.1854+330G>A,NM_001145657.1(RAP1GAP) c.1854+330G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 21926111 . C . . NT END=21928176;NT GT ./. 1 21926187 rs1767445 C T 101 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.4593,T/0.5407;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1845-77G>A;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1731-77G>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1653-77G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:33:0:0:39,33:1233,1065:0.00,100.63:0.00,25.58:0.00,75.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,40.7:0,0:0,0:111,85:40,63:28,20:-,NM_001145657.1(RAP1GAP) c.1731-77G>A:-,0.55:-,NOT_FOUND 1 21928291 . C . . NT END=21929296;NT GT ./. 1 21928344 rs2275366 C G 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6128,G/0.3872;PC=0.381;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1731-54G>C;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1617-54G>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1539-54G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:10:0:0:9,14:249,449:0.00,44.98:0.00,13.83:0.00,31.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,36.9:0,0:0,0:137,120:14,30:10,13:-,NM_001145657.1(RAP1GAP) c.1617-54G>C:-,0.4:-,NOT_FOUND 1 21929260 rs829368 A G 113 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.06769,G/0.9323,T/.;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1730+37T>C;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1616+37T>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1538+37T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:G,T:32:28:0:0:31,1:983,13:112.62,0.44:88.23,0.00:24.40,0.44:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,26.0:0,0:0,0:47,7:104,144:25,0:NM_001145657.1(RAP1GAP) c.1616+37T>C,NM_001145657.1(RAP1GAP) c.1616+37T>C:0.86,0.86:0.909783,0.909783 1 21929407 . C . . NT END=21930327;NT GT ./. 1 21929456 rs3215988 GC G 122 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=GC/0.2602,G/0.7398;NP=2138;PC=0.012;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1621-51delG;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1507-51delG;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1429-51delG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:GC,G:36:11:0:35:1,35:31,1072:0.00,121.87:0.00,22.21:0.00,99.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.0,10.5:0,0:0,0:76,79:75,70:0,25:NM_001145657.1(RAP1GAP) c.1507-51delG,NM_001145657.1(RAP1GAP) c.1507-51delG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21930406 . C . . NT END=21932558;NT GT ./. 1 21930542 rs3767111 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7296,T/0.2704;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1621-1136G>A;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1429-137G>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1429-1136G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C,T:10:0:0:0:1,9:6,276:0.00,30.78:0.00,0.00:0.00,30.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:205.0,58.7:0,0:0,0:14,116:137,35:0,22:NM_001145657.1(RAP1GAP) c.1429-137G>A,NM_001145657.1(RAP1GAP) c.1429-137G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 1 21932530 rs1767443 C A 245 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.2037,A/0.7963,T/.;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1620+29G>T;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1428+29G>T;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1428+29G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:A,G:67:62:0:0:66,1:2142,7:245.13,0.07:173.67,0.07:71.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,19.0:0,0:0,0:56,150:90,1:25,0:NM_001145657.1(RAP1GAP) c.1428+29G>T,NM_001145657.1(RAP1GAP) c.1428+29G>T:0.82,0.82:0.776898,0.776898 1 21932691 . C . . NT END=21934705;NT GT ./. 1 21934667 rs829371 G A 322 nt VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.5515,A/0.4485;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1488+39C>T;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1296+39C>T;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1296+39C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:87:74:0:0:87:2805:321.86:228.70:93.16:1.00:1.00:1.00:60:39.5:0:0:43:105:23:NM_001145657.1(RAP1GAP) c.1296+39C>T,NM_001145657.1(RAP1GAP) c.1296+39C>T:0.46,0.46:0.498154,0.498154 1 21934844 . C . . NT END=21935342;NT GT ./. 1 21935430 . C . . NT END=21936067;NT GT ./. 1 21935492 rs61775976 C T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9337,T/0.06629;PC=0.008;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1264-63G>A;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1072-63G>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1072-63G>A;VC=Intron;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:8:0:0:11,9:330,289:0.00,27.22:0.00,5.52:0.00,21.70:0.00,1.00:0.00,0.98:0.00,1.00:60,60:3.0,46.2:0,0:0,0:115,111:36,40:29,16:-,NM_001145657.1(RAP1GAP) c.1072-63G>A:-,0.06:-,NOT_FOUND 1 21935884 rs569676411 GA G 18 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=84;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1263+183delT;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.1071+183delT;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.1071+183delT;VC=Intron;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:5:5:160:18.38:11.03:7.35:1.00:1.00:1.00:60:8.6:0:0:112:39:16:NM_001145657.1(RAP1GAP) c.1071+183delT,NM_001145657.1(RAP1GAP) c.1071+183delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 21936140 . C . . NT END=21936612;NT GT ./. 1 21936769 . C . . NT END=21937944;NT GT ./. 1 21936909 rs9426672 A G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9655,G/0.03454;PC=0.863;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1036-141T>C;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.844-141T>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.844-141T>C;VC=Intron;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:11,7:345,238:0.00,21.92:0.00,0.00:0.00,21.92:0.00,0.98:0.00,0.00:0.00,0.98:60,60:5.8,41.3:0,0:0,0:106,113:45,38:17,17:-,NM_001145657.1(RAP1GAP) c.844-141T>C:-,0.05:-,NOT_FOUND 1 21937807 rs1256281 C G 78 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.00639,G/0.9936;NP=1177;PC=0.007;Gene=RAP1GAP/NM_001145658.1/0;CC=c.1035+138G>C;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.843+138G>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.843+138G>C;VC=Intron;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP;DM=RAP1GAP/Rap_GAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:22:0:0:22:672:77.64:75.95:1.69:1.00:1.00:1.00:60:40.8:0:0:30:119:25:NM_001145657.1(RAP1GAP) c.843+138G>C,NM_001145657.1(RAP1GAP) c.843+138G>C:1,1:NOT_FOUND,NOT_FOUND 1 21938075 . C . . NT END=21938208;NT GT ./. 1 21938310 . C . . NT END=21938518;NT GT ./. 1 21938375 rs2275364 T G 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.734,G/0.266;Gene=RAP1GAP/NM_001145658.1/0;CC=c.805-66A>C;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.613-66A>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.613-66A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:G:18:12:0:0:18:522:60.59:33.22:27.37:1.00:1.00:1.00:60:45.3:0:0:73:77:36:NM_001145657.1(RAP1GAP) c.613-66A>C,NM_001145657.1(RAP1GAP) c.613-66A>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 21938603 . C . . NT END=21939668;NT GT ./. 1 21939723 . C . . NT END=21940120;NT GT ./. 1 21940200 . C . . NT END=21940478;NT GT ./. 1 21940555 rs2275363 C T 104 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.607,T/0.393;Gene=RAP1GAP/NM_001145658.1/0;CC=c.511G>A;ProtCh=p.A171T;VC=Missense;Gene=RAP1GAP/NM_001145657.1/1;CC=c.319G>A;ProtCh=p.A107T;VC=Missense;Gene=RAP1GAP/NM_002885.2/0;CC=c.319G>A;ProtCh=p.A107T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:17:0:0:27:911:103.98:39.96:64.02:1.00:1.00:1.00:60:40.7:0:0:60:76:23:NM_001145657.1(RAP1GAP) c.319G>A (p.Ala107Thr),NM_001145657.1(RAP1GAP) c.319G>A (p.Ala107Thr):0.4,0.4:0.425419,0.425419 1 21940583 . C . . NT END=21943798;NT GT ./. 1 21942683 rs829416 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1681,T/0.8319;Gene=RAP1GAP/NM_001145658.1/0;CC=c.483+1116G>A;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.291+1116G>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.291+1116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:133:15.21:7.65:7.55:1.00:1.00:1.00:60:52.2:0:0:58:80:6:NM_001145657.1(RAP1GAP) c.291+1116G>A,NM_001145657.1(RAP1GAP) c.291+1116G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 21943985 . C . . NT END=21944426;NT GT ./. 1 21944045 rs748489 C G 86 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.9333,G/0.06669;Gene=RAP1GAP/NM_001145658.1/0;CC=c.298-61G>C;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.106-61G>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.106-61G>C;VC=Intron;DM=RAP1GAP/GoLoco GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:51:19:0:0:25,26:785,887:0.00,85.77:0.00,20.68:0.00,65.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,48.1:0,0:0,0:111,103:39,47:21,22:-,NM_001145657.1(RAP1GAP) c.106-61G>C:-,0.06:-,NOT_FOUND 1 21944163 rs72660324 C G 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9445,G/0.05551;Gene=RAP1GAP/NM_001145658.1/0;CC=c.298-179G>C;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.106-179G>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.106-179G>C;VC=Intron;DM=RAP1GAP/GoLoco GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:5:0:0:9,15:314,457:0.00,45.93:0.00,5.77:0.00,40.16:0.00,1.00:0.00,0.99:0.00,1.00:60,60:5.0,45.5:0,0:0,0:79,72:72,78:21,36:-,NM_001145657.1(RAP1GAP) c.106-179G>C:-,0.06:-,NOT_FOUND 1 21944466 . C . . NT END=21945517;NT GT ./. 1 21945566 . C . . NT END=21946507;NT GT ./. 1 21946415 rs1681255 G A 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.1929,A/0.8071;PC=0.003;Gene=RAP1GAP/NM_001145658.1/0;CC=c.210+93C>T;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.18+93C>T;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.18+93C>T;VC=Intron;DM=RAP1GAP/GoLoco;DM=RAP1GAP/GoLoco;DM=RAP1GAP/GoLoco;DM=RAP1GAP/GoLoco;DM=RAP1GAP/GoLoco GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,G:14:14:0:0:9,5:275,164:27.79,0.00:24.18,0.00:3.61,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:47.6,0.0:0,0:0,0:42,39:109,109:19,19:NM_001145657.1(RAP1GAP) c.18+93C>T,-:0.81,-:NOT_FOUND,- 1 21946544 . C . . NT END=21952796;NT GT ./. 1 21952884 rs1130564 G A 38 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9685,A/0.03155;PC=1.000;Gene=RAP1GAP/NM_001145658.1/0;CC=c.87C>T;ProtCh=p.S29=;VC=Silent;Gene=RAP1GAP/NM_001145657.1/1;CC=c.-106C>T;VC=5UTR;Gene=RAP1GAP/NM_002885.2/0;CC=c.-106C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:17:0:0:12,13:394,424:37.61,0.00:20.52,0.00:17.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,11.2:0,0:0,0:73,90:77,52:32,34:NM_001145657.1(RAP1GAP) c.-106C>T,-:0.04,-:0.049612,- 1 21952891 . C . . NT END=21976253;NT GT ./. 1 21953040 rs829409 G A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8536,A/0.1464;Gene=RAP1GAP/NM_001145658.1/0;CC=c.81-150C>T;VC=Intron;Gene=RAP1GAP/NM_001145657.1/1;CC=c.-112-150C>T;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.-112-150C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,G:9:0:0:0:4,5:136,152:12.82,0.00:0.00,0.00:12.82,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:40.2,0.0:0,0:0,0:106,126:44,25:10,9:NM_001145657.1(RAP1GAP) c.-112-150C>T,-:0.13,-:NOT_FOUND,- 1 21976290 . C . . NT END=21978271;NT GT ./. 1 21978349 . g . . NT END=21995746;NT GT ./. 1 21978648 rs75141928 A G 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5649,G/0.4351;Gene=RAP1GAP/NM_001145657.1/1;CC=c.-148-2359T>C;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.-148-2359T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:152:18.00:0.00:18.00:1.00:0.00:1.00:60:62.3:0:0:128:14:10:NM_001145657.1(RAP1GAP) c.-148-2359T>C,NM_001145657.1(RAP1GAP) c.-148-2359T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 1 21995574 rs7521054 C T 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8792,T/0.1208;PC=0.002;Gene=RAP1GAP/NM_001145657.1/1;CC=c.-256+173G>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.-149+173G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:9,15:272,464:0.00,46.66:0.00,44.92:0.00,1.74:0.00,1.00:0.00,1.00:0.00,0.75:60,60:58.7,64.9:0,0:0,0:38,53:111,98:30,26:-,NM_001145657.1(RAP1GAP) c.-256+173G>A:-,0.12:-,NOT_FOUND 1 21995734 rs78143302 G T 212 nt VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.8792,T/0.1208;Gene=RAP1GAP/NM_001145657.1/1;CC=c.-256+13C>A;VC=Intron;Gene=RAP1GAP/NM_002885.2/0;CC=c.-149+13C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:119:102:0:0:1,52,66:8,1522,2155:-0.13,0.00,211.87:-0.08,0.00,131.18:-0.05,0.00,80.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:137.0,11.6,38.0:0,0,0:0,0,0:137,38,34:14,108,104:0,25,25:-,NM_001145657.1(RAP1GAP) c.-256+13C>A:-,0.12:-,0.029783 1 21996010 . t . . NT END=22005908;NT GT ./. 1 22005933 . C . . NT END=22007299;NT GT ./. 1 22007328 . C . . NT END=22013682;NT GT ./. 1 22013561 rs829420 C A 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3279,A/0.6721;Gene=USP48/NM_032236.5/1;CC=c.3058+123G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:26:0:0:11,15:340,504:31.54,0.00:31.78,0.00:-0.24,0.00:1.00,0.00:1.00,0.00:0.72,0.00:60,60:31.5,5.1:0,0:0,0:44,29:106,121:27,23:NM_032236.5(USP48) c.3058+123G>T,-:0.7,-:NOT_FOUND,- 1 22013733 . C . . NT END=22016465;NT GT ./. 1 22016593 . C . . NT END=22021557;NT GT ./. 1 22016678 rs397963018 T TA 27 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.518,TA/0.482,TAA/.;DB;DBA=NA;PAF=T/0.518,TA/0.482;NP=253;PC=0.004;Gene=USP48/NM_032236.5/1;CC=c.2884-87dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:31:17:11:1:20,10,1:596,340,32:0.00,27.08,1.90:0.00,10.33,0.98:0.00,16.75,0.92:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:28.2,37.7,0.0:0,1,0:0,0,0:108,99,114:33,51,22:29,18,0:-,NM_032236.5(USP48) c.2884-87_2884-86insT:-,NOT_FOUND:-,NOT_FOUND 1 22016719 rs1618590 T C 83 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.02276,C/0.9772;Gene=USP48/NM_032236.5/1;CC=c.2884-127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:C,T:23:6:0:0:22,1:739,10:82.85,0.00:14.69,0.00:68.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,65.0:0,0:0,0:114,39:37,112:35,0:NM_032236.5(USP48) c.2884-127A>G,NM_032236.5(USP48) c.2884-127A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 22021313 rs829386 A G 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.02336,G/0.9766;Gene=USP48/NM_032236.5/1;CC=c.2883+246T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:224:25.74:25.74:0.00:1.00:1.00:0.00:60:33.4:0:0:84:66:15:NM_032236.5(USP48) c.2883+246T>C,NM_032236.5(USP48) c.2883+246T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 22021715 . C . . NT END=22027989;NT GT ./. 1 22021862 rs16825823 G A 53 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8676,A/0.1324;Gene=USP48/NM_032236.5/1;CC=c.2728-148C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:0:0:0:17,16:547,529:52.88,0.00:0.00,0.00:52.88,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.5,24.2:0,0:0,0:113,103:38,48:22,19:NM_032236.5(USP48) c.2728-148C>T,-:0.13,-:NOT_FOUND,- 1 22027858 rs71016933 C CA 14 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=USP48/NM_032236.5/1;CC=c.2727+132_2727+133insT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,CA:14:15:6:0:9,5:283,189:0.00,13.92:0.00,12.22:0.00,1.70:0.00,0.89:0.00,0.89:0.00,0.56:60,60:19.2,5.8:0,1:0,0:85,45:51,93:17,12:-,NM_032236.5(USP48) c.2727+132_2727+133insT:-,NOT_FOUND:-,NOT_FOUND 1 22028096 . C . . NT END=22030003;NT GT ./. 1 22030112 . C . . NT END=22030753;NT GT ./. 1 22030120 rs370210128 GA G 11 idl,rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=172;Gene=USP48/NM_032236.5/1;CC=c.2516-10delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:A,GA,I,G:56:30:1:7:2,48,1,5:18,1555,24,220:-0.27,0.00,0.78,10.59:-0.23,0.00,1.02,4.72:-0.03,0.00,-0.24,5.87:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.95:60,60,60,60:36.5,21.3,30.0,20.8:0,1,0,2:0,0,0,0:68,104,85,72:61,46,65,79:24,23,0,14:-,NM_032236.5(USP48) c.2516-10delT:-,NOT_FOUND:-,NOT_FOUND 1 22030189 rs829372 T C 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.8502,C/0.1498;Gene=USP48/NM_032236.5/1;CC=c.2516-78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:9:0:0:20,9:550,275:56.59,0.00:7.18,0.00:49.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,2.2:0,0:0,0:108,142:43,9:28,6:NM_032236.5(USP48) c.2516-78A>G,-:0.15,-:NOT_FOUND,- 1 22030886 . C . . NT END=22032218;NT GT ./. 1 22032331 . C . . NT END=22032617;NT GT ./. 1 22032472 rs397764126 A AT 73 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2521;Gene=USP48/NM_032236.5/1;CC=c.2274-143dupA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:AT:21:10:21:0:21:629:72.89:34.76:38.12:1.00:1.00:1.00:60:9.6:0:0:65:85:20:NM_032236.5(USP48) c.2274-143_2274-142insA,NM_032236.5(USP48) c.2274-143_2274-142insA:0.98,0.98:NOT_FOUND,NOT_FOUND 1 22032570 rs333173 T G 60 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.8534,G/0.1466;Gene=USP48/NM_032236.5/1;CC=c.2273+49A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:29:0:0:21,15:603,483:59.61,0.00:41.06,0.00:18.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:31.2,5.2:0,0:0,0:37,66:106,84:24,47:NM_032236.5(USP48) c.2273+49A>C,-:0.16,-:0.233046,- 1 22032681 . C . . NT END=22032958;NT GT ./. 1 22033083 . C . . NT END=22033235;NT GT ./. 1 22033385 rs532575338 GA G 18 idl,rn VT=DEL;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=220;PC=0.001;Gene=USP48/NM_032236.5/1;CC=c.1964-25delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,GA,T,I,G:110:60:9:10:2,90,1,8,9:66,2632,10,258,300:3.36,0.00,-0.26,14.19,17.79:-0.29,0.00,-0.05,3.92,3.15:3.65,0.00,-0.21,10.27,14.64:0.00,0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.00,0.99:60,60,60,60,60:99.0,16.1,54.0,57.9,28.0:2,0,0,1,1:0,0,0,0,0:121,87,134,71,74:29,56,13,80,76:3,36,0,18,30:-,NM_032236.5(USP48) c.1964-25delT:-,NOT_FOUND:-,0.166185 1 22033401 . C . . NT END=22041880;NT GT ./. 1 22033478 rs333172 A C 104 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.9605,C/0.03954;PC=0.004;Gene=USP48/NM_032236.5/1;CC=c.1964-117T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:69:13:0:0:36,33:1058,1087:0.00,103.75:0.00,10.80:0.00,92.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,49.5:0,0:0,0:100,94:50,50:30,33:-,NM_032236.5(USP48) c.1964-117T>G:-,0.05:-,NOT_FOUND 1 22033705 rs333171 T C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8502,C/0.1498;Gene=USP48/NM_032236.5/1;CC=c.1964-344A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,T:7:0:0:0:3,4:90,114:8.36,0.00:0.00,0.00:8.36,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:38.0,3.0:0,0:0,0:97,108:54,41:7,15:NM_032236.5(USP48) c.1964-344A>G,-:0.15,-:NOT_FOUND,- 1 22041951 . C . . NT END=22047527;NT GT ./. 1 22047660 . C . . NT END=22048141;NT GT ./. 1 22048258 . C . . NT END=22050389;NT GT ./. 1 22050264 rs900488 C G 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7666,G/0.2334;PC=0.019;Gene=USP48/NM_032236.5/1;CC=c.1648+127G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,G:10:10:0:0:5,5:148,160:0.00,15.39:0.00,15.39:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:0.0,32.0:0,0:0,0:48,22:102,128:22,19:-,NM_032236.5(USP48) c.1648+127G>C:-,0.21:-,NOT_FOUND 1 22050589 . C . . NT END=22054338;NT GT ./. 1 22055213 . C . . NT END=22056195;NT GT ./. 1 22056326 . C . . NT END=22062922;NT GT ./. 1 22063119 . C . . NT END=22073558;NT GT ./. 1 22073643 . C . . NT END=22074629;NT GT ./. 1 22074765 . C . . NT END=22077998;NT GT ./. 1 22078109 . C . . NT END=22079018;NT GT ./. 1 22079145 . C . . NT END=22079483;NT GT ./. 1 22079457 . TA T 20 idl,rn VT=DEL;SST=Single;DP=102;NP=63;PC=0.761;Gene=USP48/NM_032236.5/1;CC=c.540+27delT;VC=Intron;Gene=USP48/NM_001032730.1/0;CC=c.540+27delT;VC=Intron;DM=USP48/UCH;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,TA,I,T:97:83:9:12:4,77,6,10:110,2402,276,337:6.11,0.00,11.60,19.59:2.99,0.00,4.90,16.50:3.12,0.00,6.70,3.10:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.96:60,60,60,70:35.5,8.5,36.5,24.0:0,0,3,2:0,0,0,0:39,66,26,52:111,84,124,98:31,38,15,38:-,NM_032236.5(USP48) c.540+27delT:-,NOT_FOUND:-,NOT_FOUND 1 22079613 . C . . NT END=22083037;NT GT ./. 1 22079923 rs333200 A G 19 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.02636,G/0.9736;Gene=USP48/NM_032236.5/1;CC=c.413-311T>C;VC=Intron;Gene=USP48/NM_001032730.1/0;CC=c.413-311T>C;VC=Intron;DM=USP48/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:167:19.08:1.99:17.10:1.00:1.00:1.00:60:47.6:0:0:29:122:5:NM_032236.5(USP48) c.413-311T>C,NM_032236.5(USP48) c.413-311T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 22082967 rs35545280 CA C 33 idl,rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=CA/0.4018,C/0.5982;NP=9;PC=0.051;Gene=USP48/NM_032236.5/1;CC=c.412+71delT;VC=Intron;Gene=USP48/NM_001032730.1/0;CC=c.412+71delT;VC=Intron;DM=USP48/UCH;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,CA,I,C:33:36:11:17:1,11,10,11:33,366,349,448:2.08,0.00,29.28,33.37:-0.12,0.00,29.35,33.44:2.21,0.00,-0.07,-0.08:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.59:60,60,60,60:159.0,43.0,30.2,41.3:1,0,1,3:0,0,0,0:49,52,45,26:102,90,101,123:0,47,42,14:-,NM_032236.5(USP48) c.412+71delT:-,NOT_FOUND:-,NOT_FOUND 1 22083196 . C . . NT END=22083321;NT GT ./. 1 22083457 . C . . NT END=22084154;NT GT ./. 1 22083615 rs333208 C G 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=USP48/NM_032236.5/1;CC=c.256-420G>C;VC=Intron;Gene=USP48/NM_001032730.1/0;CC=c.256-420G>C;VC=Intron;DM=USP48/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:0:0:0:9,7:261,224:0.00,20.98:0.00,0.00:0.00,20.98:0.00,0.98:0.00,0.00:0.00,0.98:60,60:8.8,39.6:0,0:0,0:85,87:65,63:16,32:-,NM_032236.5(USP48) c.256-420G>C:-,0.06:-,NOT_FOUND 1 22083947 rs78187197 C T 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9541,T/0.04593;Gene=USP48/NM_032236.5/1;CC=c.255+209G>A;VC=Intron;Gene=USP48/NM_001032730.1/0;CC=c.255+209G>A;VC=Intron;DM=USP48/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,C,T:9:9:0:0:1,3,5:11,80,156:0.52,0.00,15.67:0.52,0.00,15.67:0.00,0.00,0.00:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.00:60,60,60:159.0,2.7,31.6:0,0,0:0,0,0:10,68,24:141,82,127:0,8,7:-,NM_032236.5(USP48) c.255+209G>A:-,0.06:-,NOT_FOUND 1 22084145 rs17458515 T C 96 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.9541,C/0.04593;Gene=USP48/NM_032236.5/1;CC=c.255+11A>G;VC=Intron;Gene=USP48/NM_001032730.1/0;CC=c.255+11A>G;VC=Intron;DM=USP48/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:52:0:0:31,29:998,946:96.47,0.00:75.46,0.00:21.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,7.7:0,0:0,0:56,47:95,104:28,28:NM_032236.5(USP48) c.255+11A>G,-:0.06,-:0.08159,- 1 22084277 . C . . NT END=22109315;NT GT ./. 1 22084428 rs75333279 A C 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.9523,C/0.04772;Gene=USP48/NM_032236.5/1;CC=c.135-152T>G;VC=Intron;Gene=USP48/NM_001032730.1/0;CC=c.135-152T>G;VC=Intron;DM=USP48/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:1:0:0:7,14:215,494:0.00,50.28:0.00,-0.48:0.00,50.75:0.00,1.00:0.00,0.78:0.00,1.00:60,60:0.0,39.3:0,0:0,0:55,64:96,85:32,30:-,NM_032236.5(USP48) c.135-152T>G:-,0.06:-,NOT_FOUND 1 22109451 . G . . NT END=22138944;NT GT ./. 1 22109796 rs35745827 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9653,T/0.03474 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:12:0:0:0:9,3:276,100:0.00,8.50:0.00,0.00:0.00,8.50:0.00,0.59:0.00,0.00:0.00,0.59:60,60:5.8,69.3:0,0:0,0:73,16:78,135:31,12:-,NM_032236.5(USP48) c.-238-u108G>A:-,0.05:-,NOT_FOUND 1 22139030 . G . . NT END=22140890;NT GT ./. 1 22139141 rs34297508 C T 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.9091,T/0.09085;Gene=LDLRAD2/NM_001013693.2/1;CC=c.85+112C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:26:0:0:0:1,13,12:9,437,368:0.03,0.00,34.98:0.00,0.00,0.00:0.03,0.00,34.98:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:35.0,7.3,39.5:0,0,0:0,0,0:130,112,95:21,39,56:0,27,34:-,NM_001013693.2(LDLRAD2) c.85+112C>T:-,0.1:-,NOT_FOUND 1 22140696 rs71636989 A C 62 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.8986,C/0.1014;Gene=LDLRAD2/NM_001013693.2/1;CC=c.86-195A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:32:32:0:0:12,19,1:390,617,12:0.00,61.74,0.21:0.00,61.74,0.21:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:18.8,51.4,32.0:0,0,0:0,0,0:71,35,150:78,116,1:14,17,0:-,NM_001013693.2(LDLRAD2) c.86-195A>C:-,0.08:-,NOT_FOUND 1 22141121 . C A 183 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=135;NP=1;PC=0.928;Gene=LDLRAD2/NM_001013693.2/1;CC=c.316C>A;ProtCh=p.P106T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:135:84:0:0:62,72,1:1937,2273,10:183.03,0.00,-0.15:93.23,0.00,-0.10:89.80,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:52.1,23.3,71.0:0,0,0:0,0,0:79,89,103:71,61,45:47,31,0:NM_001013693.2(LDLRAD2) c.316C>A (p.Pro106Thr),-:NOT_FOUND,-:NOT_FOUND,- 1 22141206 rs10917051 A C 408 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=A/0.3872,C/0.6128;PC=1.000;Gene=LDLRAD2/NM_001013693.2/1;CC=c.401A>C;ProtCh=p.N134T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:111:66:0:0:111:3551:407.86:182.47:225.39:1.00:1.00:1.00:60:50.6:0:0:89:56:32:NM_001013693.2(LDLRAD2) c.401A>C (p.Asn134Thr),NM_001013693.2(LDLRAD2) c.401A>C (p.Asn134Thr):0.64,0.64:0.635016,0.635016 1 22141317 . G . . NT END=22142435;NT GT ./. 1 22142568 . G . . NT END=22147942;NT GT ./. 1 22148709 . A . . NT END=22149808;NT GT ./. 1 22149935 rs897467 T C 507 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.2196,C/0.7804,G/.;Gene=LDLRAD2/NM_001013693.2/1;CC=c.*1227T>C;VC=3UTR;Gene=HSPG2/NM_001291860.1/0;CC=c.13053A>G;ProtCh=p.S4351=;VC=Silent;Gene=HSPG2/NM_005529.6/1;CC=c.13050A>G;ProtCh=p.S4350=;VC=Silent;DM=HSPG2/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:144:88:0:0:143,1:4393,8:506.74,0.04:240.45,0.00:266.29,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,27.0:0,0:0,0:91,32:58,119:34,0:NM_005529.5(HSPG2) c.13050A>G (p.(=)),NM_005529.5(HSPG2) c.13050A>G (p.(=)):0.78,0.78:0.792328,0.792328 1 22149982 . C . . NT END=22150108;NT GT ./. 1 22150213 . C . . NT END=22150613;NT GT ./. 1 22150257 rs3736357 C T 251 nt VT=SNV;PN=T;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.6248,T/0.3752;PC=0.002;Gene=LDLRAD2/NM_001013693.2/1;CC=c.*1549C>T;VC=3UTR;Gene=HSPG2/NM_001291860.1/0;CC=c.12903-45G>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.12900-45G>A;VC=Intron;DM=HSPG2/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:73:33:0:0:1,72:12,2176:0.21,251.26:0.00,73.29:0.21,177.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:130.0,38.8:0,0:0,0:13,109:138,39:0,22:NM_001013693.2(LDLRAD2) c.*1549C>T,NM_001013693.2(LDLRAD2) c.*1549C>T:0.42,0.42:0.3745,0.3745 1 22150698 . C . . NT END=22150798;NT GT ./. 1 22150870 . C . . NT END=22151029;NT GT ./. 1 22151109 . C . . NT END=22151196;NT GT ./. 1 22151273 . C . . NT END=22154355;NT GT ./. 1 22154413 . C . . NT END=22154522;NT GT ./. 1 22154646 . C . . NT END=22154747;NT GT ./. 1 22154920 . C . . NT END=22155327;NT GT ./. 1 22155573 . C . . NT END=22155875;NT GT ./. 1 22155723 rs7518070 T C 155 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.2366,C/0.7634;Gene=HSPG2/NM_001291860.1/0;CC=c.11996-151A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.11993-151A>G;VC=Intron;DM=HSPG2/Laminin_G_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:C:44:18:0:0:44:1341:154.88:59.34:95.54:1.00:1.00:1.00:60:47.0:0:0:88:62:44:NM_005529.5(HSPG2) c.11993-151A>G,NM_005529.5(HSPG2) c.11993-151A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 22156098 . C . . NT END=22156485;NT GT ./. 1 22156585 . C . . NT END=22157474;NT GT ./. 1 22157584 . C . . NT END=22157707;NT GT ./. 1 22157689 rs3736355 G A 271 nt VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.2408,A/0.7592;Gene=HSPG2/NM_001291860.1/0;CC=c.11565+19C>T;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.11562+19C>T;VC=Intron;DM=HSPG2/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:79:52:0:0:78,1:2364,12:271.45,0.00:145.72,0.00:125.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,11.0:0,0:0,0:45,144:102,7:26,0:NM_005529.5(HSPG2) c.11562+19C>T,NM_005529.5(HSPG2) c.11562+19C>T:0.76,0.76:0.76984,0.76984 1 22157818 . C . . NT END=22157955;NT GT ./. 1 22158056 . C . . NT END=22158144;NT GT ./. 1 22158290 . C . . NT END=22158987;NT GT ./. 1 22158363 rs4654771 G A 230 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.7005,A/0.2995;PC=0.134;Gene=HSPG2/NM_001291860.1/0;CC=c.11211-74C>T;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.11208-74C>T;VC=Intron;DM=HSPG2/Laminin_G_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:29:0:0:66:1984:229.63:66.66:162.98:1.00:1.00:1.00:60:40.0:0:0:112:35:24:NM_005529.5(HSPG2) c.11208-74C>T,NM_005529.5(HSPG2) c.11208-74C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 1 22159100 . C . . NT END=22159760;NT GT ./. 1 22159878 . C . . NT END=22159959;NT GT ./. 1 22160108 . C . . NT END=22160308;NT GT ./. 1 22160148 rs7547731 C T 367 nt VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.625,T/0.375;Gene=HSPG2/NM_001291860.1/0;CC=c.10834-41G>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.10831-41G>A;VC=Intron;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:98:46:0:0:98:3208:367.44:116.68:250.77:1.00:1.00:1.00:60:39.0:0:0:85:61:30:NM_005529.5(HSPG2) c.10831-41G>A,NM_005529.5(HSPG2) c.10831-41G>A:0.42,0.42:0.374154,0.374154 1 22160419 . C . . NT END=22161171;NT GT ./. 1 22161439 . C . . NT END=22162032;NT GT ./. 1 22161635 rs397979548 CT C 8 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=HSPG2/NM_001291860.1/0;CC=c.10457-198delA;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.10454-198delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,CT,I,C:18:0:2:4:1,12,2,3:10,342,51,130:0.09,0.00,3.53,7.94:0.00,0.00,0.00,0.00:0.09,0.00,3.53,7.94:0.00,0.00,0.00,0.51:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.51:60,60,60,60:90.0,37.8,28.0,29.3:0,0,0,1:0,0,0,0:38,122,98,101:94,29,52,49:0,24,0,19:-,NM_005529.5(HSPG2) c.10454-198delA:-,NOT_FOUND:-,NOT_FOUND 1 22162131 . C . . NT END=22163294;NT GT ./. 1 22163153 rs12567651 A C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.7584,C/0.2416;Gene=HSPG2/NM_001291860.1/0;CC=c.10358+142T>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.10355+142T>G;VC=Intron;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:23:0:0:15,8:466,272:0.00,24.56:0.00,24.56:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:10.5,43.1:0,0:0,0:34,24:117,127:22,16:-,NM_005529.5(HSPG2) c.10355+142T>G:-,0.29:-,NOT_FOUND 1 22163500 . C . . NT END=22165317;NT GT ./. 1 22165579 . C . . NT END=22165863;NT GT ./. 1 22166044 . C . . NT END=22166314;NT GT ./. 1 22166511 . C . . NT END=22167593;NT GT ./. 1 22167779 . C . . NT END=22168031;NT GT ./. 1 22168167 . C . . NT END=22168494;NT GT ./. 1 22168216 rs7556412 C T 228 nt VT=SNV;PN=T;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.3762,T/0.6238;Gene=HSPG2/NM_001291860.1/0;CC=c.9197-50G>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.9194-50G>A;VC=Intron;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G,T:64:26:0:0:1,63:11,1984:0.19,227.84:0.00,63.39:0.19,164.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:185.0,38.8:0,0:0,0:63,83:87,66:0,25:NM_005529.5(HSPG2) c.9194-50G>A,NM_005529.5(HSPG2) c.9194-50G>A:0.65,0.65:0.607104,0.607104 1 22168636 . C . . NT END=22168731;NT GT ./. 1 22168874 . C . . NT END=22169262;NT GT ./. 1 22169325 rs41266007 C T 215 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.9938,T/0.00619;PC=0.529;Gene=HSPG2/NM_001291860.1/0;CC=c.8851G>A;ProtCh=p.G2951R;VC=Missense;Gene=HSPG2/NM_005529.6/1;CC=c.8848G>A;ProtCh=p.G2950R;VC=Missense;DM=HSPG2/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:117:81:0:0:50,1,66:1571,11,2176:0.00,-0.08,214.60:0.00,-0.10,104.68:0.00,0.02,109.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.1,113.0,40.2:0,0,0:0,0,0:99,99,76:43,52,61:38,0,30:-,NM_005529.5(HSPG2) c.8848G>A (p.Gly2950Arg):-,0.01:-,0.014532 1 22169415 . C . . NT END=22169789;NT GT ./. 1 22169932 . C . . NT END=22170640;NT GT ./. 1 22170793 . C . . NT END=22172600;NT GT ./. 1 22172458 rs7355045 T C 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2414,C/0.7586;Gene=HSPG2/NM_001291860.1/0;CC=c.8467+143A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.8464+143A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:413:47.47:47.47:0.00:1.00:1.00:0.00:60:39.8:0:0:67:84:18:NM_005529.5(HSPG2) c.8464+143A>G,NM_005529.5(HSPG2) c.8464+143A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 22172749 . C . . NT END=22172940;NT GT ./. 1 22173093 . C . . NT END=22173846;NT GT ./. 1 22173986 . C . . NT END=22174181;NT GT ./. 1 22174334 . C . . NT END=22174450;NT GT ./. 1 22174587 . C . . NT END=22175135;NT GT ./. 1 22174600 rs3767138 A G 327 nt VT=SNV;PN=G;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.238,G/0.762;Gene=HSPG2/NM_001291860.1/0;CC=c.7741-14T>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.7738-14T>C;VC=Intron;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:88:46:0:0:88:2848:326.67:101.44:225.23:1.00:1.00:1.00:60:39.6:0:0:92:47:32:NM_005529.5(HSPG2) c.7738-14T>C,NM_005529.5(HSPG2) c.7738-14T>C:0.76,0.76:0.783865,0.783865 1 22175288 . C . . NT END=22175385;NT GT ./. 1 22175525 . C . . NT END=22176533;NT GT ./. 1 22176686 . C . . NT END=22176855;NT GT ./. 1 22176769 rs34719083 C T 138 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.9651,T/0.03494;Gene=HSPG2/NM_001291860.1/0;CC=c.7298-84G>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.7295-84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:80:52:0:0:35,1,44:1053,12,1406:0.00,0.00,138.13:0.00,0.07,74.39:0.00,-0.07,63.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.7,167.0,39.5:0,0,0:0,0,0:68,75,63:83,74,88:33,0,39:-,NM_005529.5(HSPG2) c.7295-84G>A:-,0.02:-,NOT_FOUND 1 22176992 . C . . NT END=22178038;NT GT ./. 1 22177119 rs61777200 A G 67 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.6939,G/0.3061;Gene=HSPG2/NM_001291860.1/0;CC=c.7162-128T>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.7159-128T>C;VC=Intron;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:3:0:0:19:580:66.98:4.98:62.00:1.00:1.00:1.00:60:43.1:0:0:129:22:15:NM_005529.5(HSPG2) c.7159-128T>C,NM_005529.5(HSPG2) c.7159-128T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 22178191 . C . . NT END=22178283;NT GT ./. 1 22178420 . C . . NT END=22178580;NT GT ./. 1 22178727 . C . . NT END=22179192;NT GT ./. 1 22179326 . C . . NT END=22179411;NT GT ./. 1 22179564 . C . . NT END=22180685;NT GT ./. 1 22179673 rs12049614 T C 252 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.6222,C/0.3778;Gene=HSPG2/NM_001291860.1/0;CC=c.6443-110A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.6440-110A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:16:0:0:75:2166:251.96:37.99:213.98:1.00:1.00:1.00:60:37.4:0:0:116:35:24:NM_005529.5(HSPG2) c.6440-110A>G,NM_005529.5(HSPG2) c.6440-110A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 22180548 rs12117402 T C 64 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3239,C/0.6761;Gene=HSPG2/NM_001291860.1/0;CC=c.6442+138A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.6439+138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:562:64.31:60.48:3.83:1.00:1.00:1.00:60:43.1:0:0:25:126:25:NM_005529.5(HSPG2) c.6439+138A>G,NM_005529.5(HSPG2) c.6439+138A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 22180837 . C . . NT END=22181103;NT GT ./. 1 22181259 . C . . NT END=22181340;NT GT ./. 1 22181360 rs116788687 G C 145 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=114;DB;DBA=NA;PAF=G/0.9916,C/0.008387;PC=0.989;Gene=HSPG2/NM_001291860.1/0;CC=c.6117C>G;ProtCh=p.I2039M;VC=Missense;Gene=HSPG2/NM_005529.6/1;CC=c.6114C>G;ProtCh=p.I2038M;VC=Missense;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:114:68:0:0:48,65,1:1559,2071,7:145.29,0.00,-0.21:54.83,0.00,-0.13:90.46,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.3,13.7,75.0:0,0,0:0,0,0:79,67,87:65,82,64:44,48,0:NM_005529.5(HSPG2) c.6114C>G (p.Ile2038Met),-:0.01,-:0.016377,- 1 22181477 . C . . NT END=22181796;NT GT ./. 1 22181940 . C . . NT END=22182015;NT GT ./. 1 22182169 . C . . NT END=22182279;NT GT ./. 1 22182406 . C . . NT END=22183507;NT GT ./. 1 22183471 rs12024579 A C 258 nt VT=SNV;PN=G;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.251,C/0.749;Gene=HSPG2/NM_001291860.1/0;CC=c.5578+37T>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.5575+37T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:69:61:0:0:69:2249:257.66:194.20:63.46:1.00:1.00:1.00:60:39.1:0:0:46:104:28:NM_005529.5(HSPG2) c.5575+37T>G,NM_005529.5(HSPG2) c.5575+37T>G:0.75,0.75:0.764878,0.764878 1 22183689 . C . . NT END=22183777;NT GT ./. 1 22183739 rs2305562 A G 360 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.5531,G/0.4469;PC=0.003;Gene=HSPG2/NM_001291860.1/0;CC=c.5397+39T>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.5394+39T>C;VC=Intron;DM=HSPG2/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:99:59:0:0:99:3134:360.34:171.61:188.74:1.00:1.00:1.00:60:40.1:0:0:94:53:35:NM_005529.5(HSPG2) c.5394+39T>C,NM_005529.5(HSPG2) c.5394+39T>C:0.49,0.49:0.508458,0.508458 1 22183879 . C . . NT END=22186058;NT GT ./. 1 22186170 . C . . NT END=22186327;NT GT ./. 1 22186234 rs10917056 A G 258 nt VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.07069,G/0.9293;Gene=HSPG2/NM_001291860.1/0;CC=c.5186-65T>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.5183-65T>C;VC=Intron;DM=HSPG2/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:41:0:0:70:2244:257.70:126.47:131.23:1.00:1.00:1.00:60:42.9:0:0:81:69:43:NM_005529.5(HSPG2) c.5183-65T>C,NM_005529.5(HSPG2) c.5183-65T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 22186496 . C . . NT END=22186669;NT GT ./. 1 22186729 . C . . NT END=22188249;NT GT ./. 1 22188337 . C . . NT END=22188480;NT GT ./. 1 22188609 . C . . NT END=22190592;NT GT ./. 1 22190707 . C . . NT END=22191335;NT GT ./. 1 22191454 rs897471 G A 565 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.3085,A/0.6915;PC=0.069;Gene=HSPG2/NM_001291860.1/0;CC=c.4511C>T;ProtCh=p.A1504V;VC=Missense;Gene=HSPG2/NM_005529.6/1;CC=c.4508C>T;ProtCh=p.A1503V;VC=Missense;DM=HSPG2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:152:97:0:0:151,1:4932,9:564.72,0.06:261.57,0.00:303.15,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,48:36.9,177.0:0,0:0,0:71,47:76,81:32,0:NM_005529.5(HSPG2) c.4508C>T (p.Ala1503Val),NM_005529.5(HSPG2) c.4508C>T (p.Ala1503Val):0.74,0.74:0.699136,0.699136 1 22191567 . C . . NT END=22191777;NT GT ./. 1 22191859 . C . . NT END=22192209;NT GT ./. 1 22192303 . C . . NT END=22195377;NT GT ./. 1 22192524 rs4654993 A G 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.02137,G/0.9786;Gene=HSPG2/NM_001291860.1/0;CC=c.4225-222T>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.4222-222T>C;VC=Intron;DM=HSPG2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:197:23.02:0.00:23.02:1.00:0.00:1.00:60:64.7:0:0:84:67:48:NM_005529.5(HSPG2) c.4222-222T>C,NM_005529.5(HSPG2) c.4222-222T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 22195462 . C . . NT END=22195958;NT GT ./. 1 22196157 . C . . NT END=22196705;NT GT ./. 1 22196808 . C . . NT END=22197326;NT GT ./. 1 22197366 . C . . NT END=22198678;NT GT ./. 1 22197614 rs10917057 T C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.01977,C/0.9802;Gene=HSPG2/NM_001291860.1/0;CC=c.4224+1065A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.4221+1065A>G;VC=Intron;DM=HSPG2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:198:22.66:2.04:20.62:1.00:1.00:1.00:60:54.2:0:0:37:107:9:NM_005529.5(HSPG2) c.4221+1065A>G,NM_005529.5(HSPG2) c.4221+1065A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 22198871 . C . . NT END=22199112;NT GT ./. 1 22199081 rs2501266 A T 326 nt VT=SNV;PN=C;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.02017,T/0.9798;Gene=HSPG2/NM_001291860.1/0;CC=c.4032+32T>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.4029+32T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:86:67:0:0:86:2851:325.98:226.12:99.86:1.00:1.00:1.00:60:41.8:0:0:56:88:29:NM_005529.5(HSPG2) c.4029+32T>A,NM_005529.5(HSPG2) c.4029+32T>A:0.99,0.99:0.982729,0.982729 1 22199245 rs2229482 C T 359 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.5751,A/.,G/.,T/0.4249;PC=0.972;Gene=HSPG2/NM_001291860.1/0;CC=c.3900G>A;ProtCh=p.V1300=;VC=Silent;Gene=HSPG2/NM_005529.6/1;CC=c.3897G>A;ProtCh=p.V1299=;VC=Silent;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:97:57:0:0:97:3132:359.24:139.79:219.45:1.00:1.00:1.00:60:39.2:0:0:83:63:37:NM_005529.5(HSPG2) c.3897G>A (p.(=)),NM_005529.5(HSPG2) c.3897G>A (p.(=)):0.46,0.46:0.524692,0.524692 1 22199254 . C . . NT END=22199489;NT GT ./. 1 22199585 . C . . NT END=22199867;NT GT ./. 1 22199821 rs2454290 G A 217 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.258,A/0.742;PC=0.001;Gene=HSPG2/NM_001291860.1/0;CC=c.3796+47C>T;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.3793+47C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:48:0:0:60:1885:216.96:138.39:78.57:1.00:1.00:1.00:60:36.4:0:0:42:107:18:NM_005529.5(HSPG2) c.3793+47C>T,NM_005529.5(HSPG2) c.3793+47C>T:0.79,0.79:0.733277,0.733277 1 22199918 . C . . NT END=22200417;NT GT ./. 1 22200067 rs2247741 A G 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6114,G/0.3886;Gene=HSPG2/NM_001291860.1/0;CC=c.3747-150T>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.3744-150T>C;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:3:0:0:14:417:48.35:10.93:37.42:1.00:1.00:1.00:60:80.1:0:0:86:53:40:NM_005529.5(HSPG2) c.3744-150T>C,NM_005529.5(HSPG2) c.3744-150T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 1 22200082 rs2445136 T C 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.02236,C/0.9776;Gene=HSPG2/NM_001291860.1/0;CC=c.3747-165A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.3744-165A>G;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:3:0:0:11:311:36.33:10.43:25.90:1.00:1.00:1.00:60:87.6:0:0:93:58:28:NM_005529.5(HSPG2) c.3744-165A>G,NM_005529.5(HSPG2) c.3744-165A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 22200505 . C . . NT END=22200898;NT GT ./. 1 22200835 rs2445135 C G 256 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.02177,G/0.9782;Gene=HSPG2/NM_001291860.1/0;CC=c.3659+64G>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.3656+64G>C;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:63:0:0:70:2225:255.76:190.21:65.55:1.00:1.00:1.00:60:43.4:0:0:42:105:29:NM_005529.5(HSPG2) c.3656+64G>C,NM_005529.5(HSPG2) c.3656+64G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 22201027 . C . . NT END=22201108;NT GT ./. 1 22201223 . C . . NT END=22201383;NT GT ./. 1 22201496 . C . . NT END=22202121;NT GT ./. 1 22202109 rs2501265 C T 177 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.05771,T/0.9423;Gene=HSPG2/NM_001291860.1/0;CC=c.3305+13G>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.3302+13G>A;VC=Intron;DM=HSPG2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:45:0:0:47:1543:176.64:143.09:33.55:1.00:1.00:1.00:60:40.9:0:0:55:96:25:NM_005529.5(HSPG2) c.3302+13G>A,NM_005529.5(HSPG2) c.3302+13G>A:0.95,0.95:0.940873,0.940873 1 22202241 . C . . NT END=22202355;NT GT ./. 1 22202536 . C . . NT END=22202721;NT GT ./. 1 22202899 . C . . NT END=22203004;NT GT ./. 1 22203146 . C . . NT END=22204678;NT GT ./. 1 22203259 rs2454295 A G 197 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.5483,G/0.4517;PC=0.013;Gene=HSPG2/NM_001291860.1/0;CC=c.2689-114T>C;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.2686-114T>C;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:G:55:9:0:0:55:1706:196.73:21.09:175.64:1.00:1.00:1.00:60:44.1:0:0:110:41:25:NM_005529.5(HSPG2) c.2686-114T>C,NM_005529.5(HSPG2) c.2686-114T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 1 22204747 . C . . NT END=22204925;NT GT ./. 1 22204985 . C . . NT END=22205069;NT GT ./. 1 22205157 . C . . NT END=22205486;NT GT ./. 1 22205408 rs2454294 T C 223 nt VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.02636,C/0.9736;Gene=HSPG2/NM_001291860.1/0;CC=c.2474+79A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.2471+79A>G;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:A,C:64:59:0:0:1,63:11,1939:0.19,223.40:0.19,172.41:0.00,50.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:114.0,62.8:0,0:0,0:74,50:77,100:0,31:NM_005529.5(HSPG2) c.2471+79A>G,NM_005529.5(HSPG2) c.2471+79A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 22205466 rs2454293 T C 353 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.04054,A/.,C/0.9595,G/.;PC=0.015;Gene=HSPG2/NM_001291860.1/0;CC=c.2474+21A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.2471+21A>G;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:100:84:0:5:100:3054:352.51:235.37:117.14:1.00:1.00:1.00:60:55.0:1:0:60:90:28:NM_005529.5(HSPG2) c.2471+21A>G,NM_005529.5(HSPG2) c.2471+21A>G:0.97,0.97:0.96184,0.96184 1 22205615 . C . . NT END=22206599;NT GT ./. 1 22206649 rs989994 T C 530 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=T/0.07009,C/0.9299,G/.;PC=1.000;Gene=HSPG2/NM_001291860.1/0;CC=c.2297A>G;ProtCh=p.N766S;VC=Missense;Gene=HSPG2/NM_005529.6/1;CC=c.2294A>G;ProtCh=p.N765S;VC=Missense;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:138:105:0:0:138:4642:529.90:289.89:240.01:1.00:1.00:1.00:60:39.9:0:0:58:84:29:NM_005529.5(HSPG2) c.2294A>G (p.Asn765Ser),NM_005529.5(HSPG2) c.2294A>G (p.Asn765Ser):0.95,0.95:0.935184,0.935184 1 22206748 . C . . NT END=22206855;NT GT ./. 1 22206942 rs1874793 G A 410 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=G/0.07009,A/0.9299,T/.;PC=1.000;Gene=HSPG2/NM_001291860.1/0;CC=c.2112C>T;ProtCh=p.A704=;VC=Silent;Gene=HSPG2/NM_005529.6/1;CC=c.2109C>T;ProtCh=p.A703=;VC=Silent;DM=HSPG2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:116:73:0:0:116:3548:409.68:201.05:208.63:1.00:1.00:1.00:60:40.2:0:0:78:69:37:NM_005529.5(HSPG2) c.2109C>T (p.(=)),NM_005529.5(HSPG2) c.2109C>T (p.(=)):0.95,0.95:0.935184,0.935184 1 22207053 . C . . NT END=22207148;NT GT ./. 1 22207235 rs1874792 T C 434 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.02636,C/0.9736;PC=0.814;Gene=HSPG2/NM_001291860.1/0;CC=c.1915A>G;ProtCh=p.M639V;VC=Missense;Gene=HSPG2/NM_005529.6/1;CC=c.1912A>G;ProtCh=p.M638V;VC=Missense;DM=HSPG2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:118:89:0:0:118:3783:434.36:243.36:191.00:1.00:1.00:1.00:60:38.6:0:0:81:65:35:NM_005529.5(HSPG2) c.1912A>G (p.Met638Val),NM_005529.5(HSPG2) c.1912A>G (p.Met638Val):0.98,0.98:0.975659,0.975659 1 22207329 . C . . NT END=22207831;NT GT ./. 1 22207804 rs60267433 ACCCAGGGTGGCAG A 154 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=ACCCAGGGTGGCAG/0.04034,A/0.9597;DB;DBA=NA;PAF=ACCCAGGGTGGCAG/0.04034,A/0.9597;NP=3358;PC=0.032;Gene=HSPG2/NM_001291860.1/0;CC=c.1821+15_1821+27delCTGCCACCCTGGG;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.1818+15_1818+27delCTGCCACCCTGGG;VC=Intron;DM=HSPG2/Laminin_B;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:60:ACCCAGGGTGGCAG,A:47:43:0:45:2,45:61,1365:0.00,154.01:0.00,122.37:0.00,31.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,4.2:0,0:0,0:138,55:7,94:5,17:NM_005529.5(HSPG2) c.1818+15_1818+27delCTGCCACCCTGGG,NM_005529.5(HSPG2) c.1818+15_1818+27delCTGCCACCCTGGG:0.96,0.96:0.955073,0.955073 1 22207996 . C . . NT END=22211020;NT GT ./. 1 22208030 rs921847 C T 232 nt VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.07408,T/0.9259;Gene=HSPG2/NM_001291860.1/0;CC=c.1658-35G>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.1655-35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:G,T:65:22:0:0:1,64:9,2017:0.11,231.72:0.11,50.73:0.00,180.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.0,40.6:0,0:0,0:135,94:16,49:0,31:NM_005529.5(HSPG2) c.1655-35G>A,NM_005529.5(HSPG2) c.1655-35G>A:0.94,0.94:0.92688,0.92688 1 22211171 . C . . NT END=22211259;NT GT ./. 1 22211222 rs4654994 T C 649 nt VT=SNV;PN=C;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=T/0.1036,C/0.8964;Gene=HSPG2/NM_001291860.1/0;CC=c.1507+38A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.1507+38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:185:125:0:0:184,1:5623,6:648.89,0.02:327.46,0.02:321.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,11.0:0,0:0,0:89,15:57,136:25,0:NM_005529.5(HSPG2) c.1507+38A>G,NM_005529.5(HSPG2) c.1507+38A>G:0.91,0.91:0.906529,0.906529 1 22211412 . C . . NT END=22211505;NT GT ./. 1 22211651 . C . . NT END=22211812;NT GT ./. 1 22211945 . C . . NT END=22213707;NT GT ./. 1 22213828 . C . . NT END=22213912;NT GT ./. 1 22214168 . C . . NT END=22214430;NT GT ./. 1 22214560 . C . . NT END=22215160;NT GT ./. 1 22215088 rs2445140 T C 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.02077,C/0.9792;PC=0.002;Gene=HSPG2/NM_001291860.1/0;CC=c.575-529A>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.575-529A>G;VC=Intron;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:32:0:0:34:1090:125.21:101.21:24.00:1.00:1.00:1.00:60:44.7:0:0:48:102:26:NM_005529.5(HSPG2) c.575-529A>G,NM_005529.5(HSPG2) c.575-529A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 22215212 . C . . NT END=22216473;NT GT ./. 1 22216574 rs2254358 C A 340 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.5555,A/0.4445;Gene=HSPG2/NM_001291860.1/0;CC=c.474G>T;ProtCh=p.G158=;VC=Silent;Gene=HSPG2/NM_005529.6/1;CC=c.474G>T;ProtCh=p.G158=;VC=Silent;DM=HSPG2/I-set;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:93:65:0:0:93:2956:339.88:175.19:164.70:1.00:1.00:1.00:60:60.5:0:0:83:67:40:NM_005529.5(HSPG2) c.474G>T (p.(=)),NM_005529.5(HSPG2) c.474G>T (p.(=)):0.45,0.45:0.550284,0.550284 1 22216604 rs2254357 C G 319 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.5555,A/.,G/0.4445;PC=1.000;Gene=HSPG2/NM_001291860.1/0;CC=c.444G>C;ProtCh=p.L148=;VC=Silent;Gene=HSPG2/NM_005529.6/1;CC=c.444G>C;ProtCh=p.L148=;VC=Silent;DM=HSPG2/I-set;DM=HSPG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:88:54:0:0:88:2774:318.92:128.67:190.25:1.00:1.00:1.00:60:60.1:0:0:66:76:34:NM_005529.5(HSPG2) c.444G>C (p.(=)),NM_005529.5(HSPG2) c.444G>C (p.(=)):0.45,0.45:0.550361,0.550361 1 22216635 . C . . NT END=22216919;NT GT ./. 1 22216979 . C . . NT END=22217077;NT GT ./. 1 22217108 rs2501260 G A 201 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.05192,A/0.9481;PC=1.000;Gene=HSPG2/NM_001291860.1/0;CC=c.324C>T;ProtCh=p.F108=;VC=Silent;Gene=HSPG2/NM_005529.6/1;CC=c.324C>T;ProtCh=p.F108=;VC=Silent;DM=HSPG2/I-set;DM=HSPG2/I-set;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:A:57:37:0:0:57:1742:201.13:106.60:94.54:1.00:1.00:1.00:60:44.4:0:0:62:83:28:NM_005529.5(HSPG2) c.324C>T (p.(=)),NM_005529.5(HSPG2) c.324C>T (p.(=)):0.96,0.96:0.953791,0.953791 1 22217188 . C . . NT END=22222414;NT GT ./. 1 22222460 . C . . NT END=22222667;NT GT ./. 1 22222804 . C . . NT END=22263647;NT GT ./. 1 22234654 rs4654995 C T 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.8464,T/0.1536;PC=1.000;Gene=HSPG2/NM_001291860.1/0;CC=c.64-11851G>A;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.64-11851G>A;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:23:0:0:17,10:569,312:0.00,28.23:0.00,17.67:0.00,10.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.6,42.9:0,0:0,0:59,80:92,70:41,32:-,NM_005529.5(HSPG2) c.64-11851G>A:-,0.16:-,NOT_FOUND 1 22263618 . G C 8 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;Gene=HSPG2/NM_001291860.1/0;CC=c.63+30C>G;VC=Intron;Gene=HSPG2/NM_005529.6/1;CC=c.63+30C>G;VC=Intron;DM=HSPG2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:C,G:47:12:0:0:4,43:117,1300:7.69,0.00:9.13,0.00:-1.44,0.00:0.56,0.00:0.57,0.00:0.91,0.00:60,60:63.5,8.3:2,1:0,0:118,32:10,119:6,18:NM_005529.5(HSPG2) c.63+30C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 22263711 . g . . NT END=22303532;NT GT ./. 1 22263913 rs192259893 G C 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.876 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:C,G:17:1:0:0:12,5:366,175:37.84,0.00:1.81,0.00:36.03,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:52.1,22.6:0,0:0,0:117,85:28,64:28,14:NM_005529.5(HSPG2) c.-40-u163C>G,-:0.11,-:NOT_FOUND,- 1 22303465 rs116802276 C T 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CELA3B/NM_007352.2/1;CC=c.-68C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:48:0:0:30,22:962,753:0.00,70.42:0.00,51.85:0.00,18.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,45.9:0,0:0,0:54,28:97,110:30,15:-,NM_007352.2(CELA3B) c.-68C>T:-,0.09:-,NOT_FOUND 1 22303576 . G . . NT END=22304861;NT GT ./. 1 22303702 rs4415533 C A 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.5613,A/0.4387;Gene=CELA3B/NM_007352.2/1;CC=c.43+127C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:25:0:0:0:12,13:330,398:31.16,0.00:0.00,0.00:31.16,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.4,10.7:0,0:0,0:87,102:63,44:22,40:NM_007352.2(CELA3B) c.43+127C>A,-:0.43,-:NOT_FOUND,- 1 22304712 rs10917088 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4641,G/0.5359;Gene=CELA3B/NM_007352.2/1;CC=c.44-150A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,G:9:9:0:0:1,8:32,249:0.00,27.31:0.00,27.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,56:0.0,42.8:0,0:0,0:10,53:141,97:0,24:-,NM_007352.2(CELA3B) c.44-150A>G:-,0.5:-,NOT_FOUND 1 22304948 . G . . NT END=22307316;NT GT ./. 1 22307206 rs7528110 C A 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5006,A/0.4994;Gene=CELA3B/NM_007352.2/1;CC=c.130-111C>A;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:18:0:0:18:559:64.40:64.40:0.00:1.00:1.00:0.00:43:78.6:0:0:33:116:19:NM_007352.2(CELA3B) c.130-111C>A,NM_007352.2(CELA3B) c.130-111C>A:0.44,0.44:NOT_FOUND,NOT_FOUND 1 22307207 rs7549878 G A 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.3796,A/0.6204;NP=977;Gene=CELA3B/NM_007352.2/1;CC=c.130-110G>A;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:A,C:19:19:0:0:18,1:555,10:63.61,0.38:63.61,0.38:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,43:80.0,40.0:0,0:0,0:31,107:116,44:21,0:NM_007352.2(CELA3B) c.130-110G>A,NM_007352.2(CELA3B) c.130-110G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 22307340 rs7528228 C T 193 lc VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.1508,T/0.8492;Gene=CELA3B/NM_007352.2/1;CC=c.153C>T;ProtCh=p.S51=;VC=Silent;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:T:53:45:0:0:53:1677:192.96:152.47:40.49:1.00:1.00:1.00:51:68.8:0:0:54:97:33:NM_007352.2(CELA3B) c.153C>T (p.(=)),NM_007352.2(CELA3B) c.153C>T (p.(=)):0.72,0.72:NOT_FOUND,NOT_FOUND 1 22307358 rs7528300 C G 226 lc VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.1524,A/.,G/0.8476;PC=0.129;Gene=CELA3B/NM_007352.2/1;CC=c.171C>G;ProtCh=p.T57=;VC=Silent;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:171:C,G:64:53:0:0:1,63:10,1974:0.00,225.63:0.00,165.82:0.00,59.80:0.00,1.00:0.00,1.00:0.00,1.00:27,60:19.0,60.2:0,0:0,0:71,37:80,106:0,27:NM_007352.2(CELA3B) c.171C>G (p.(=)),NM_007352.2(CELA3B) c.171C>G (p.(=)):0.71,0.71:NOT_FOUND,NOT_FOUND 1 22307415 . G . . NT END=22307530;NT GT ./. 1 22307538 rs7528405 C T 526 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.1066,T/0.8934;Gene=CELA3B/NM_007352.2/1;CC=c.235C>T;ProtCh=p.R79W;VC=Missense;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:140:93:0:0:1,139:6,4603:0.02,525.98:0.02,252.41:0.00,273.57:0.00,1.00:0.00,1.00:0.00,1.00:34,60:129.0,43.9:0,0:0,0:138,84:7,62:0,27:NM_007352.2(CELA3B) c.235C>T (p.Arg79Trp),NM_007352.2(CELA3B) c.235C>T (p.Arg79Trp):0.89,0.89:0.946332,0.946332 1 22307666 . G . . NT END=22310186;NT GT ./. 1 22307743 rs6689384 T C 182 nt VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.1526,C/0.8474;Gene=CELA3B/NM_007352.2/1;CC=c.362+78T>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:C:50:24:0:0:50:1580:181.70:65.51:116.20:1.00:1.00:1.00:60:59.7:0:0:127:18:10:NM_007352.2(CELA3B) c.362+78T>C,NM_007352.2(CELA3B) c.362+78T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 22307757 rs6691837 T A 128 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.153,A/0.847;Gene=CELA3B/NM_007352.2/1;CC=c.362+92T>A;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:8:0:0:35:1114:128.08:20.96:107.12:1.00:1.00:1.00:60:74.7:0:0:138:11:9:NM_007352.2(CELA3B) c.362+92T>A,NM_007352.2(CELA3B) c.362+92T>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 22309938 rs6698795 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1522,C/0.8478;Gene=CELA3B/NM_007352.2/1;CC=c.363-249T>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:C,T:9:9:0:0:7,2:231,62:24.37,0.00:24.37,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,19:94.7,100.0:0,0:0,0:36,14:115,136:22,0:NM_007352.2(CELA3B) c.363-249T>C,-:0.81,-:NOT_FOUND,- 1 22309957 rs12023741 T C 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5425,C/0.4575;PC=0.030;Gene=CELA3B/NM_007352.2/1;CC=c.363-230T>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,T:12:12:0:0:6,6:179,197:17.14,0.00:17.14,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,55:87.3,94.3:0,0:0,0:57,33:93,118:38,6:NM_007352.2(CELA3B) c.363-230T>C,-:0.41,-:NOT_FOUND,- 1 22310017 rs114795257 T C 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=55;Gene=CELA3B/NM_007352.2/1;CC=c.363-170T>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:29:0:0:13,16:443,498:41.86,0.00:41.86,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:103.2,64.4:0,0:0,0:40,38:111,105:25,21:NM_007352.2(CELA3B) c.363-170T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 22310018 rs115661820 G C 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=49;Gene=CELA3B/NM_007352.2/1;CC=c.363-169G>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:30:30:0:0:1,13,16:9,427,538:-0.01,40.23,0.00:-0.01,40.23,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:62.0,103.2,66.8:0,0,0:0,0,0:94,41,34:57,110,110:0,25,20:NM_007352.2(CELA3B) c.363-169G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 22310041 rs67675962 A AATG 106 rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.638,AATG/.,AATGATGATGATG/.,ATGATGATGATGATG/0.362;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=595;PC=0.003;Gene=CELA3B/NM_007352.2/1;CC=c.363-127_363-126insTGA;VC=Intron;DM=CELA3B/Trypsin;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G,AATG:42:42:31:0:8,3,31:249,92,998:0.00,6.94,105.84:0.00,6.94,105.84:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:101.6,133.3,83.9:0,0,0:0,0,0:117,6,54:33,145,96:16,1,23:-,NM_007352.2(CELA3B) c.363-146_363-145insATG:-,NOT_FOUND:-,NOT_FOUND 1 22310080 rs10799723 G A 210 nt VT=SNV;PN=T;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.1206,A/0.8794;Gene=CELA3B/NM_007352.2/1;CC=c.363-107G>A;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:174:A:62:60:0:0:62:1809:210.05:187.64:22.41:1.00:1.00:1.00:60:95.1:0:0:43:107:31:NM_007352.2(CELA3B) c.363-107G>A,NM_007352.2(CELA3B) c.363-107G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 22310139 rs10733031 T G 345 nt VT=SNV;PN=C;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.374;Gene=CELA3B/NM_007352.2/1;CC=c.363-48T>G;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:101:95:0:0:100,1:3002,29:344.70,0.00:265.78,0.00:78.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,3:95.0,127.0:0,0:0,0:40,0:107,143:21,0:NM_007352.2(CELA3B) c.363-48T>G,NM_007352.2(CELA3B) c.363-48T>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 22310145 rs10733032 C T 403 nt VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.1522,T/0.8478;PC=0.009;Gene=CELA3B/NM_007352.2/1;CC=c.363-42C>T;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:108:101:0:0:108:3518:403.14:316.65:86.49:1.00:1.00:1.00:60:93.4:0:0:53:95:28:NM_007352.2(CELA3B) c.363-42C>T,NM_007352.2(CELA3B) c.363-42C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 22310262 rs10733033 G C 567 lc VT=SNV;PN=C;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=G/0.1206,C/0.8794,T/.;Gene=CELA3B/NM_007352.2/1;CC=c.438G>C;ProtCh=p.P146=;VC=Silent;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:161:105:0:0:161:4908:566.98:270.72:296.26:1.00:1.00:1.00:51:54.1:0:0:89:61:32:NM_007352.2(CELA3B) c.438G>C (p.(=)),NM_007352.2(CELA3B) c.438G>C (p.(=)):0.81,0.81:0.928692,0.928692 1 22310324 . G . . NT END=22310681;NT GT ./. 1 22310411 rs28468423 A G 209 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.1879,G/0.8121;Gene=CELA3B/NM_007352.2/1;CC=c.499+88A>G;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:16:0:0:58:1817:209.30:39.72:169.59:1.00:1.00:1.00:60:54.8:0:0:104:45:30:NM_007352.2(CELA3B) c.499+88A>G,NM_007352.2(CELA3B) c.499+88A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 22310413 rs7549398 A G 76 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.2606,G/0.7394;Gene=CELA3B/NM_007352.2/1;CC=c.499+90A>G;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:15:0:0:32,26:945,811:0.00,76.14:0.00,26.00:0.00,50.14:0.00,1.00:0.00,1.00:0.00,1.00:51,60:38.0,73.8:0,0:0,0:114,74:36,75:17,26:-,NM_007352.2(CELA3B) c.499+90A>G:-,0.61:-,NOT_FOUND 1 22310662 rs6426735 G T 148 nt VT=SNV;PN=C;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.1595,A/.,T/0.8405;Gene=CELA3B/NM_007352.2/1;CC=c.500-20G>T;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:94:81:0:0:46,48:1306,1529:0.00,147.62:0.00,116.70:0.00,30.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.6,90.5:0,0:0,0:52,66:86,85:27,38:-,NM_007352.2(CELA3B) c.500-20G>T:-,0.83:-,0.878902 1 22310674 rs7538207 C T 355 nt VT=SNV;PN=T;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.1508,T/0.8492;PC=0.002;Gene=CELA3B/NM_007352.2/1;CC=c.500-8C>T;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:102:83:0:0:102:3072:355.41:248.14:107.26:1.00:1.00:1.00:60:70.9:0:0:59:86:31:NM_007352.2(CELA3B) c.500-8C>T,NM_007352.2(CELA3B) c.500-8C>T:0.84,0.84:0.901661,0.901661 1 22310725 rs3820287 G C 194 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=NA;Gene=CELA3B/NM_007352.2/1;CC=c.543G>C;ProtCh=p.P181=;VC=Silent;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:128:96:0:0:66,62:2016,1830:194.41,0.00:113.52,0.00:80.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.3,63.3:0,0:0,0:63,58:84,92:35,38:NM_007352.2(CELA3B) c.543G>C (p.(=)),-:0.83,-:0.87944,- 1 22310807 rs114365157 A G 231 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.9912,G/0.008786;Gene=CELA3B/NM_007352.2/1;CC=c.625A>G;ProtCh=p.I209V;VC=Missense;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:156:89:0:0:80,76:2598,2415:0.00,230.68:0.00,89.79:0.00,140.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.3,93.2:0,0:0,0:77,67:72,73:24,34:-,NM_007352.2(CELA3B) c.625A>G (p.Ile209Val):-,0.01:-,0.022682 1 22310824 rs1803531 T C 528 nt VT=SNV;PN=A;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=T/0.1068,C/0.8932;Gene=CELA3B/NM_007352.2/1;CC=c.642T>C;ProtCh=p.N214=;VC=Silent;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:145:78:0:0:145:4591:528.05:185.91:342.13:1.00:1.00:1.00:60:72.7:0:0:88:61:24:NM_007352.2(CELA3B) c.642T>C (p.(=)),NM_007352.2(CELA3B) c.642T>C (p.(=)):0.86,0.86:0.946316,0.946316 1 22310825 . G . . NT END=22313023;NT GT ./. 1 22310847 rs189853639 G C 202 nt VT=SNV;PN=C;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.9912,A/.,C/0.008786;Gene=CELA3B/NM_007352.2/1;CC=c.642+23G>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:132:62:0:0:63,69:2115,2265:201.86,0.00:61.01,0.00:140.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:93.3,47.9:0,0:0,0:81,96:70,53:22,20:NM_007352.2(CELA3B) c.642+23G>C,-:0.01,-:0.021923,- 1 22310933 rs12130164 C G 65 nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.1703,G/0.8297;Gene=CELA3B/NM_007352.2/1;CC=c.642+109C>G;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:48:1:0:0:27,21:822,692:0.00,64.94:0.00,3.52:0.00,61.42:0.00,1.00:0.00,0.62:0.00,1.00:40,40:55.8,63.9:0,0:0,0:111,112:40,39:24,25:-,NM_007352.2(CELA3B) c.642+109C>G:-,0.83:-,NOT_FOUND 1 22311011 rs12122445 G A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1599,A/0.8401;Gene=CELA3B/NM_007352.2/1;CC=c.642+187G>A;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:16:0:0:0:6,10:197,307:17.97,0.00:0.00,0.00:17.97,0.00:0.95,0.00:0.00,0.00:0.95,0.00:40,40:76.2,11.9:0,0:0,0:76,74:74,76:22,24:NM_007352.2(CELA3B) c.642+187G>A,-:0.83,-:NOT_FOUND,- 1 22311059 rs12122466 G C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3718,C/0.6282;Gene=CELA3B/NM_007352.2/1;CC=c.642+235G>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:C,G:12:0:0:0:5,7:160,224:14.84,0.00:0.00,0.00:14.84,0.00:0.92,0.00:0.00,0.00:0.92,0.00:40,40:77.6,10.3:0,0:0,0:110,116:41,35:28,14:NM_007352.2(CELA3B) c.642+235G>C,-:0.6,-:NOT_FOUND,- 1 22312755 rs10917099 A G 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1426,G/0.8574;Gene=CELA3B/NM_007352.2/1;CC=c.643-269A>G;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,C,G:10:10:0:0:3,1,6:96,14,177:0.00,0.77,18.00:0.00,0.77,18.00:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:58.0,79.0,81.2:0,0,0:0,0,0:35,129,20:115,22,129:5,0,15:-,NM_007352.2(CELA3B) c.643-269A>G:-,0.78:-,NOT_FOUND 1 22312793 rs146511980 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9912,T/0.008786;PC=0.001;Gene=CELA3B/NM_007352.2/1;CC=c.643-231C>T;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:A,C,T:16:16:0:0:1,11,4:29,316,130:1.87,0.00,11.13:1.87,0.00,11.13:0.00,0.00,0.00:0.00,0.00,0.75:0.00,0.00,0.75:0.00,0.00,0.00:60,60,60:57.0,62.3,56.0:0,0,0:0,0,0:0,39,70:151,110,80:0,22,32:-,NM_007352.2(CELA3B) c.643-231C>T:-,0.01:-,NOT_FOUND 1 22312823 rs12121096 A T 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5551,T/0.4449;Gene=CELA3B/NM_007352.2/1;CC=c.643-201A>T;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G,T:19:19:0:0:4,1,14:80,12,419:0.00,0.43,44.44:0.00,0.43,44.44:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:67.5,72.0,57.9:0,0,0:0,0,0:94,87,40:56,63,104:6,0,17:-,NM_007352.2(CELA3B) c.643-201A>T:-,0.39:-,NOT_FOUND 1 22312850 rs77736376 G C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9698,C/0.03015;Gene=CELA3B/NM_007352.2/1;CC=c.643-174G>C;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,G:22:22:0:0:4,18:104,510:7.81,0.00:7.81,0.00:0.00,0.00:0.70,0.00:0.70,0.00:0.00,0.00:60,60:49.5,51.2:0,0:0,0:92,60:59,83:35,29:NM_007352.2(CELA3B) c.643-174G>C,-:0.02,-:NOT_FOUND,- 1 22312998 rs115366432 C T 198 nt VT=SNV;PN=C;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.9912,T/0.008786;Gene=CELA3B/NM_007352.2/1;CC=c.643-26C>T;VC=Intron;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:146:128:0:0:82,64:2644,2114:0.00,198.42:0.00,153.05:0.00,45.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,41.8:0,0:0,0:59,65:85,81:37,36:-,NM_007352.2(CELA3B) c.643-26C>T:-,0.01:-,0.022682 1 22313161 rs1803530 T C 494 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=T/0.1192,C/0.8808;Gene=CELA3B/NM_007352.2/1;CC=c.780T>C;ProtCh=p.I260=;VC=Silent;DM=CELA3B/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:135:71:0:0:135:4304:494.49:174.37:320.12:1.00:1.00:1.00:60:44.3:0:0:94:47:24:NM_007352.2(CELA3B) c.780T>C (p.(=)),NM_007352.2(CELA3B) c.780T>C (p.(=)):0.87,0.87:0.928418,0.928418 1 22313177 . G . . NT END=22315754;NT GT ./. 1 22313197 rs34963341 C A 135 nt VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.3878,A/0.6122,T/.;Gene=CELA3B/NM_007352.2/1;CC=c.795+21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:100:35:0:0:42,58:1446,1777:135.10,0.00:19.62,0.00:115.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.8,34.8:0,0:0,0:112,108:38,38:19,19:NM_007352.2(CELA3B) c.795+21C>A,-:0.59,-:0.710648,- 1 22315574 rs187581857 C T 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9916,T/0.008387;Gene=CELA3B/NM_007352.2/1;CC=c.796-181C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:C,T:20:19:0:0:14,6:444,188:0.00,16.36:0.00,16.51:0.00,-0.16:0.00,0.94:0.00,1.00:0.00,0.53:60,60:9.3,53.0:0,0:0,0:57,74:92,77:25,15:-,NM_007352.2(CELA3B) c.796-181C>T:-,0.01:-,NOT_FOUND 1 22315738 rs4655006 C T 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=CELA3B/NM_007352.2/1;CC=c.796-17C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:32:0:0:39,14:1123,393:0.00,32.72:0.00,21.27:0.00,11.45:0.00,1.00:0.00,1.00:0.00,1.00:43,50:9.4,46.9:0,0:0,0:102,121:49,27:24,16:-,NM_007352.2(CELA3B) c.796-17C>T:-,0.54:-,NOT_FOUND 1 22315773 . A . . NT END=22328167;NT GT ./. 1 22328211 . G . . NT END=22329495;NT GT ./. 1 22329407 rs12756442 G C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.6775,C/0.3225;NP=1083;Gene=CELA3A/NM_005747.4/1;CC=c.44-89G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:22:0:0:8,15:270,524:24.36,0.00:22.88,0.00:1.48,0.00:0.99,0.00:1.00,0.00:0.74,0.00:42,60:86.4,36.9:0,0:0,0:36,27:114,124:5,15:NM_005747.4(CELA3A) c.44-89G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 22329414 rs10917107 G A 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6258,A/0.3742;Gene=CELA3A/NM_005747.4/1;CC=c.44-82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:24:0:0:17,8:562,265:57.50,0.00:52.54,0.00:4.97,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,42:36.4,86.4:0,0:0,0:33,43:117,107:27,5:NM_005747.4(CELA3A) c.44-82G>A,-:0.39,-:NOT_FOUND,- 1 22329417 rs7533677 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.7688,C/0.2312;Gene=CELA3A/NM_005747.4/1;CC=c.44-79T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:25:0:0:8,18:273,569:24.15,0.00:22.75,0.00:1.40,0.00:0.98,0.00:1.00,0.00:0.69,0.00:42,60:86.4,35.0:0,0:0,0:46,35:104,114:5,27:NM_005747.4(CELA3A) c.44-79T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 22329582 . G . . NT END=22331939;NT GT ./. 1 22329603 rs41307874 C T 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.9908,T/0.009185;Gene=CELA3A/NM_005747.4/1;CC=c.129+22C>T;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:28:0:0:37,15:1246,498:0.00,43.39:0.00,23.33:0.00,20.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,61.0:0,0:0,0:87,104:62,41:28,16:-,NM_005747.4(CELA3A) c.129+22C>T:-,0.01:-,0.023939 1 22329645 rs4543768 T C 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4732,C/0.5268;Gene=CELA3A/NM_005747.4/1;CC=c.129+64T>C;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:36:10:0:0:7,29:225,929:18.14,0.00:10.29,0.00:7.85,0.00:0.94,0.00:0.83,0.00:1.00,0.00:52,60:74.4,11.9:0,0:0,0:134,110:17,41:5,19:NM_005747.4(CELA3A) c.129+64T>C,-:0.46,-:NOT_FOUND,- 1 22331626 rs4417034 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2614,T/0.7386;PC=0.001;Gene=CELA3A/NM_005747.4/1;CC=c.130-314C>T;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:5:5:0:0:1,4:35,109:0.00,11.72:0.00,11.72:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:56,60:35.0,73.5:0,0:0,0:17,17:133,133:0,6:-,NM_005747.4(CELA3A) c.130-314C>T:-,0.65:-,NOT_FOUND 1 22331627 rs4539104 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2614,A/0.7386;PC=0.001;Gene=CELA3A/NM_005747.4/1;CC=c.130-313G>A;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:5:5:0:0:4,1:118,31:12.62,0.00:12.62,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,56:73.5,35.0:0,0:0,0:18,18:132,132:6,0:NM_005747.4(CELA3A) c.130-313G>A,-:0.65,-:NOT_FOUND,- 1 22331705 rs4453011 G C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=65;Gene=CELA3A/NM_005747.4/1;CC=c.130-235G>C;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,G:15:15:0:0:4,11:119,379:10.03,0.00:10.03,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:56,60:36.2,27.9:0,0:0,0:60,49:90,102:16,38:NM_005747.4(CELA3A) c.130-235G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 22331822 rs59210655 C T 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=465;Gene=CELA3A/NM_005747.4/1;CC=c.130-118C>T;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:44:43:0:0:24,1,19:781,13,596:0.00,0.12,55.84:0.00,0.12,53.23:0.00,0.00,2.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.62:54,40,48:15.4,13.0,68.5:0,0,0:0,0,0:45,143,25:105,8,126:28,0,16:-,NM_005747.4(CELA3A) c.130-118C>T:-,NOT_FOUND:-,NOT_FOUND 1 22331829 rs57093046 C A 65 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=665;Gene=CELA3A/NM_005747.4/1;CC=c.130-111C>A;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:51:50:0:0:21,30:700,893:65.02,0.00:61.85,0.00:3.18,0.00:1.00,0.00:1.00,0.00:0.71,0.00:48,54:64.9,12.8:0,0:0,0:30,43:121,107:18,34:NM_005747.4(CELA3A) c.130-111C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 22332008 rs56968853 T C 154 lc VT=SNV;PN=A;NN=T;SST=Single;DP=195;DB;DBA=NA;PAF=NA;NP=2175;PC=0.002;Gene=CELA3A/NM_005747.4/1;CC=c.198T>C;ProtCh=p.D66=;VC=Silent;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:195:130:0:0:53,142:1779,4247:153.71,0.00:41.70,0.00:112.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,60:40.4,8.4:0,0:0,0:109,83:37,64:15,32:NM_005747.4(CELA3A) c.198T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 22332038 . G . . NT END=22332154;NT GT ./. 1 22332290 . G . . NT END=22333370;NT GT ./. 1 22332319 rs76548941 G A 79 nt VT=SNV;PN=G;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=NA;NP=147;Gene=CELA3A/NM_005747.4/1;CC=c.362+30G>A;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:158:81:0:0:32,126:987,3826:79.46,0.00:21.00,0.00:58.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:128.5,8.8:0,0:0,0:31,96:118,52:18,23:NM_005747.4(CELA3A) c.362+30G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 22332332 rs74922245 T C 94 nt VT=SNV;PN=T;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=84;Gene=CELA3A/NM_005747.4/1;CC=c.362+43T>C;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:154:72:0:0:35,119:1134,3830:94.28,0.00:21.48,0.00:72.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:122.9,9.7:0,0:0,0:42,94:109,53:20,25:NM_005747.4(CELA3A) c.362+43T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 22332333 rs76102053 G A 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=155;DB;DBA=NA;PAF=NA;NP=53;Gene=CELA3A/NM_005747.4/1;CC=c.362+44G>A;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:155:72:0:0:35,120:1025,3953:83.28,0.00:20.47,0.00:62.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:125.8,9.4:0,0:0,0:43,104:108,41:20,22:NM_005747.4(CELA3A) c.362+44G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 22332411 rs61778015 A G 148 nt VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=3057;Gene=CELA3A/NM_005747.4/1;CC=c.362+122A>G;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:101:8:0:0:49,2,50:1573,14,1538:0.00,-0.25,147.83:0.00,-0.01,11.77:0.00,-0.24,136.06:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:8.4,156.0,95.5:0,0,0:0,0,0:107,41,94:44,109,54:32,30,27:-,NM_005747.4(CELA3A) c.362+122A>G:-,NOT_FOUND:-,NOT_FOUND 1 22332515 rs61778016 G A 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=3;PC=0.116;Gene=CELA3A/NM_005747.4/1;CC=c.362+226G>A;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:0:0:0:10,19:334,552:30.06,0.00:0.00,0.00:30.06,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:70.1,17.0:0,0:0,0:134,112:16,39:7,19:NM_005747.4(CELA3A) c.362+226G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 22332540 rs61778017 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=11;PC=0.043;Gene=CELA3A/NM_005747.4/1;CC=c.362+251A>G;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,G:16:0:0:0:13,3:415,98:0.00,7.88:0.00,0.00:0.00,7.88:0.00,0.54:0.00,0.00:0.00,0.54:60,42:24.7,79.3:0,0:0,0:124,128:27,23:15,15:-,NM_005747.4(CELA3A) c.362+251A>G:-,NOT_FOUND:-,NOT_FOUND 1 22333078 rs12760192 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7732,G/0.2268;Gene=CELA3A/NM_005747.4/1;CC=c.363-293A>G;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:11:11:0:0:6,5:176,155:0.00,14.59:0.00,12.73:0.00,1.87:0.00,0.93:0.00,0.93:0.00,0.64:60,60:69.7,55.6:0,0:0,0:60,19:91,132:18,5:-,NM_005747.4(CELA3A) c.363-293A>G:-,0.25:-,NOT_FOUND 1 22333144 rs61778018 A G 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6601,G/0.3399;PC=0.001;Gene=CELA3A/NM_005747.4/1;CC=c.363-227A>G;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,G,T:18:18:0:0:6,11,1:172,319,9:0.00,32.30,0.17:0.00,32.30,0.17:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,40:28.5,106.6,111.0:0,0,0:0,0,0:58,16,85:93,133,66:26,15,0:-,NM_005747.4(CELA3A) c.363-227A>G:-,0.33:-,NOT_FOUND 1 22333209 rs146138315 CAAT C 88 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=CAAT/0.3594,C/0.6406;NP=146;PC=0.001;Gene=CELA3A/NM_005747.4/1;CC=c.363-137_363-135delAAT;VC=Intron;DM=CELA3A/Trypsin;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CAAT,C:29:36:0:33:3,26:67,985:0.00,88.09:0.00,88.09:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:43,60:59.0,71.7:0,7:0,0:149,28:1,121:1,18:-,NM_005747.4(CELA3A) c.363-161_363-159delAAT:-,NOT_FOUND:-,NOT_FOUND 1 22333228 rs55724481 A G 81 nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.6581,G/0.3419;NP=19;Gene=CELA3A/NM_005747.4/1;CC=c.363-143A>G;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:47:0:0:23,24:723,837:0.00,81.03:0.00,81.50:0.00,-0.47:0.00,1.00:0.00,1.00:0.00,0.89:60,56:16.2,120.5:0,0:0,0:33,23:114,123:10,16:-,NM_005747.4(CELA3A) c.363-143A>G:-,NOT_FOUND:-,NOT_FOUND 1 22333231 rs61778020 A G 78 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.6486,G/0.3514;NP=23;Gene=CELA3A/NM_005747.4/1;CC=c.363-140A>G;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:50:0:0:27,24:822,815:0.00,77.64:0.00,78.32:0.00,-0.68:0.00,1.00:0.00,1.00:0.00,0.92:60,56:15.2,120.5:0,0:0,0:31,26:118,120:22,16:-,NM_005747.4(CELA3A) c.363-140A>G:-,NOT_FOUND:-,NOT_FOUND 1 22333234 rs7543775 A G 85 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.6334,G/0.3666;NP=41;Gene=CELA3A/NM_005747.4/1;CC=c.363-137A>G;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:52:0:0:27,26:852,887:0.00,85.15:0.00,85.88:0.00,-0.73:0.00,1.00:0.00,1.00:0.00,0.93:60,60:13.5,113.8:0,0:0,0:32,29:117,117:20,18:-,NM_005747.4(CELA3A) c.363-137A>G:-,NOT_FOUND:-,NOT_FOUND 1 22333508 . G . . NT END=22333865;NT GT ./. 1 22333595 rs3820290 G A 130 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.5942,A/0.4058;Gene=CELA3A/NM_005747.4/1;CC=c.499+88G>A;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:24:0:0:42,42:1352,1272:129.93,0.00:28.55,0.00:101.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:37.8,8.0:0,0:0,0:91,101:58,50:35,28:NM_005747.4(CELA3A) c.499+88G>A,-:0.24,-:NOT_FOUND,- 1 22334009 . G . . NT END=22336197;NT GT ./. 1 22334381 rs11589764 C A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3179,A/0.6821;PC=0.068;Gene=CELA3A/NM_005747.4/1;CC=c.642+373C>A;VC=Intron;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:52.2:0:0:127:23:12:NM_005747.4(CELA3A) c.642+373C>A,NM_005747.4(CELA3A) c.642+373C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 22336179 rs149940905 TC T 225 nt VT=DEL;SST=Single;DP=147;DB;DBA=NA;PAF=TC/0.9912,T/0.008786;NP=222;PC=0.001;Gene=CELA3A/NM_005747.4/1;CC=c.643-17delC;VC=Intron;DM=CELA3A/Trypsin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TC,T:147:127:0:74:1,73,73:12,2425,2341:-0.11,0.00,224.97:-0.04,0.00,173.54:-0.07,0.00,51.43:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:104.0,18.1,30.4:0,0,0:0,0,0:15,51,53:136,96,94:0,33,31:-,NM_005747.4(CELA3A) c.643-18delC:-,0.01:-,0.026623 1 22336277 rs3820285 C G 663 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=C/0.1042,G/0.8958;Gene=CELA3A/NM_005747.4/1;CC=c.722C>G;ProtCh=p.A241G;VC=Missense;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:179:122:0:0:1,178:18,5808:0.00,662.95:0.00,331.55:0.00,331.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:213.0,67.7:0,0:0,0:69,76:66,69:0,34:NM_005747.4(CELA3A) c.722C>G (p.Ala241Gly),NM_005747.4(CELA3A) c.722C>G (p.Ala241Gly):0.89,0.89:0.957211,0.957211 1 22336305 rs9187 C T 207 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=165;DB;DBA=NA;PAF=C/0.7135,T/0.2865;PC=1.000;Gene=CELA3A/NM_005747.4/1;CC=c.750C>T;ProtCh=p.P250=;VC=Silent;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:165:101:0:0:97,68:3165,2229:0.00,206.75:0.00,78.73:0.00,128.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:50.7,101.3:0,0:0,0:79,80:68,70:35,34:-,NM_005747.4(CELA3A) c.750C>T (p.(=)):-,0.3:-,0.238967 1 22336308 rs12908 G A 208 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=G/0.7145,A/0.2855;Gene=CELA3A/NM_005747.4/1;CC=c.753G>A;ProtCh=p.T251=;VC=Silent;DM=CELA3A/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:163:96:0:0:67,94,2:2235,2921,46:208.00,0.00,1.54:72.02,0.00,1.81:135.98,0.00,-0.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:99.6,50.1,125.5:0,0,0:0,0,0:70,80,130:81,66,20:38,33,13:NM_005747.4(CELA3A) c.753G>A (p.(=)),-:0.3,-:0.236737,- 1 22336351 . G . . NT END=22338942;NT GT ./. 1 22336371 rs3806297 C A 189 nt VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=NA;Gene=CELA3A/NM_005747.4/1;CC=c.795+21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:123:59:0:0:60,62,1:1968,1877,5:188.70,0.00,-0.20:70.27,0.00,-0.04:118.43,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,27:58.6,66.0,45.0:0,0,0:0,0,0:107,92,51:39,55,100:29,29,0:NM_005747.4(CELA3A) c.795+21C>A,-:0.52,-:0.631518,- 1 22336643 rs60189068 G C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.865,C/0.135;PC=0.007;Gene=CELA3A/NM_005747.4/1;CC=c.795+293G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:4:0:0:0:3,1:93,35:9.75,0.00:0.00,0.00:9.75,0.00:0.85,0.00:0.00,0.00:0.85,0.00:40,27:54.3,0.0:0,0:0,0:61,18:89,132:2,0:NM_005747.4(CELA3A) c.795+293G>C,-:0.15,-:NOT_FOUND,- 1 22338961 . A . . NT END=22404971;NT GT ./. 1 22405077 . G . . NT END=22405198;NT GT ./. 1 22405375 . G . . NT END=22408214;NT GT ./. 1 22405379 rs34952712 CT C 39 sb;idl,rn VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=CT/0.1699,C/0.8301;NP=52;PC=0.257;Gene=CDC42/NM_044472.2/0;CC=c.105+321delT;VC=Intron;Gene=CDC42/NM_001039802.1/1;CC=c.105+321delT;VC=Intron;Gene=CDC42/NM_001791.3/0;CC=c.105+321delT;VC=Intron;DM=CDC42/Ras;DM=CDC42/Ras;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:38:25:1:23:23,1,14:769,29,704:0.00,1.50,38.69:0.00,-0.10,1.76:0.00,1.60,36.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:9.1,40.0,30.9:0,0,9:0,0,0:111,88,94:18,63,50:29,0,29:-,NM_001039802.1(CDC42) c.105+304delT:-,NOT_FOUND:-,NOT_FOUND 1 22408106 rs2501282 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.02835,A/0.9716;PC=0.011;Gene=CDC42/NM_044472.2/0;CC=c.106-109G>A;VC=Intron;Gene=CDC42/NM_001039802.1/1;CC=c.106-109G>A;VC=Intron;Gene=CDC42/NM_001791.3/0;CC=c.106-109G>A;VC=Intron;DM=CDC42/Ras;DM=CDC42/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:11:11:0:0:5,6:159,164:15.00,0.00:15.00,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:34.4,7.0:0,0:0,0:95,68:56,83:32,40:NM_001039802.1(CDC42) c.106-109G>A,-:0.97,-:NOT_FOUND,- 1 22408288 . G . . NT END=22412931;NT GT ./. 1 22408465 rs2056976 C T 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.02835,T/0.9716;Gene=CDC42/NM_044472.2/0;CC=c.178+178C>T;VC=Intron;Gene=CDC42/NM_001039802.1/1;CC=c.178+178C>T;VC=Intron;Gene=CDC42/NM_001791.3/0;CC=c.178+178C>T;VC=Intron;DM=CDC42/Ras;DM=CDC42/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:C,T:7:0:0:0:1,6:26,207:0.00,22.32:0.00,0.00:0.00,22.32:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.0,67.2:0,0:0,0:147,59:3,91:0,3:-,NM_001039802.1(CDC42) c.178+178C>T:-,0.97:-,NOT_FOUND 1 22408527 rs2056975 A G 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.04253,G/0.9575;Gene=CDC42/NM_044472.2/0;CC=c.178+240A>G;VC=Intron;Gene=CDC42/NM_001039802.1/1;CC=c.178+240A>G;VC=Intron;Gene=CDC42/NM_001791.3/0;CC=c.178+240A>G;VC=Intron;DM=CDC42/Ras;DM=CDC42/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:229:26.24:0.00:26.24:1.00:0.00:1.00:60:69.7:0:0:121:30:3:NM_001039802.1(CDC42) c.178+240A>G,NM_001039802.1(CDC42) c.178+240A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 22413042 . G . . NT END=22413161;NT GT ./. 1 22413360 . G . . NT END=22416435;NT GT ./. 1 22417297 . T . . NT END=22417920;NT GT ./. 1 22418011 . A . . NT END=22446542;NT GT ./. 1 22418260 rs139035560 C GAA 8 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8073,CAA/0.1927;NP=35;PC=0.608;Gene=CDC42/NM_001039802.1/1;CC=c.*249_*250insGA;VC=3UTR;Gene=CDC42/NM_001791.3/0;CC=c.*249_*250insGA;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:C,GAA:5:0:3:0:2,3:45,76:0.00,7.58:0.00,0.00:0.00,7.58:0.00,0.78:0.00,0.00:0.00,0.78:60,70:71.5,86.3:0,0:0,0:118,94:32,55:28,38:-,NM_001039802.1(CDC42) c.*250delCinsGAA:-,NOT_FOUND:-,NOT_FOUND 1 22445616 rs55866536 CAG C 13 sb,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CAG/0.2244,C/0.7756;NP=8;PC=0.004;Gene=WNT4/NM_030761.4/1;CC=c.*925_*926delCT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CAG,C:6:6:0:4:2,4:65,132:0.00,13.45:0.00,12.13:0.00,1.32:0.00,0.93:0.00,0.93:0.00,0.97:60,60:16.0,22.5:0,0:0,0:32,19:118,131:0,4:-,NM_030761.4(WNT4) c.*925_*926delCT:-,NOT_FOUND:-,NOT_FOUND 1 22445721 rs58912525 G GTGTG 9 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=115;NP=151;NP=19;NP=4;NP=43;Gene=WNT4/NM_030761.4/1;CC=c.*862_*863insACAC;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,T,GTGTG:9:5:4:0:3,3,3:102,70,133:0.00,6.39,9.50:0.00,0.87,3.23:0.00,5.52,6.27:0.00,0.00,0.62:0.00,0.00,0.82:0.00,0.00,0.92:60,60,60:9.0,57.7,12.7:0,0,1:0,0,0:129,92,88:22,58,62:6,33,30:-,NM_030761.4(WNT4) c.*821AC[23]:-,NOT_FOUND:-,NOT_FOUND 1 22447011 . C . . NT END=22447703;NT GT ./. 1 22447148 rs12756110 G C 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=WNT4/NM_030761.4/1;CC=c.589-138C>G;VC=Intron;DM=WNT4/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:43:0:0:0:20,22,1:537,677,11:50.55,0.00,0.03:0.00,0.00,0.00:50.55,0.00,0.03:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.7,10.0,59.0:0,0,0:0,0,0:97,108,124:53,42,27:25,26,0:NM_030761.4(WNT4) c.589-138C>G,-:0.96,-:NOT_FOUND,- 1 22447316 rs3765350 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6605,G/0.3395;Gene=WNT4/NM_030761.4/1;CC=c.589-306T>C;VC=Intron;DM=WNT4/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,G:4:0:0:0:1,3:9,95:0.00,10.01:0.00,0.00:0.00,10.01:0.00,0.85:0.00,0.00:0.00,0.85:60,60:33.0,59.0:0,0:0,0:113,77:38,74:0,60:-,NM_030761.4(WNT4) c.589-306T>C:-,0.34:-,NOT_FOUND 1 22447523 rs10753529 G A 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.03614,A/0.9639;Gene=WNT4/NM_030761.4/1;CC=c.588+181C>T;VC=Intron;DM=WNT4/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:25:0:0:13,12:378,339:36.44,0.00:36.44,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:52.5,12.8:0,0:0,0:59,51:92,100:41,35:NM_030761.4(WNT4) c.588+181C>T,-:0.96,-:NOT_FOUND,- 1 22447645 rs41420150 C CTG 146 nt VT=INS;SST=Single;DP=92;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1444,CTG/0.8556;NP=3170;Gene=WNT4/NM_030761.4/1;CC=c.588+57_588+58dupCA;VC=Intron;DM=WNT4/wnt;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CTG:92:84:50:0:38,4,50:1254,120,1481:0.00,7.73,145.75:0.00,7.89,118.93:0.00,-0.16,26.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.4,39.5,12.6:0,3,0:0,0,0:32,37,36:116,114,110:21,23,16:-,NM_030761.4(WNT4) c.588+58_588+59insCA:-,NOT_FOUND:-,NOT_FOUND 1 22447847 . C . . NT END=22447937;NT GT ./. 1 22448070 . C . . NT END=22456108;NT GT ./. 1 22456345 . C . . NT END=22466686;NT GT ./. 1 22466773 . c . . NT END=22469338;NT GT ./. 1 22469416 . G . . NT END=22816441;NT GT ./. 1 22548520 rs368570750 CCACA C 8 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CCACA,C:4:7:0:6:1,3:36,184:0.00,8.38:0.00,2.36:0.00,6.01:0.00,0.69:0.00,0.69:0.00,0.89:60,60:0.0,0.0:0,3:0,0:111,62:40,77:0,16:-,chr1 g.22548521_22548524delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 22591814 rs2505715 T G 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1587,G/0.8413 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:6:0:0:7:219:25.20:15.71:9.49:1.00:1.00:1.00:60:55.4:0:0:80:71:14:NR_039613.1(MIR4418) n.-918T>G,NR_039613.1(MIR4418) n.-918T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 22603552 rs760915 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2352,G/0.7648 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:138:15.71:5.92:9.79:1.00:1.00:1.00:60:46.0:0:0:83:53:26:chr1 g.22603551A>G (intergenic),chr1 g.22603551A>G (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 1 22649994 rs10917209 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6563,G/0.3437 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,C,G:11:0:0:0:3,1,7:91,10,153:0.00,0.40,15.79:0.00,0.00,0.00:0.00,0.40,15.79:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:61.0,190.0,33.7:0,0,0:0,0,0:79,126,100:72,7,51:6,0,32:-,chr1 g.22649993A>G (intergenic):-,0.33:-,NOT_FOUND 1 22816233 rs10799756 C T 16 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5823,T/0.4177;PC=0.012;Gene=ZBTB40/NM_001083621.1/1;CC=c.-69-140C>T;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.-69-140C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:10:10:0:0:5,5:155,171:0.00,16.48:0.00,16.48:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:11.4,72.8:0,0:0,0:37,5:110,146:18,3:-,NM_001083621.1(ZBTB40) c.-69-140C>T:-,0.42:-,NOT_FOUND 1 22816262 rs1267005 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.2007,C/0.7993;PC=0.002;Gene=ZBTB40/NM_001083621.1/1;CC=c.-69-111T>C;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.-69-111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:11:11:0:0:6,5:203,163:19.87,0.00:19.87,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:66.3,11.4:0,0:0,0:33,66:118,81:8,18:NM_001083621.1(ZBTB40) c.-69-111T>C,-:0.8,-:NOT_FOUND,- 1 22817139 . G . . NT END=22817892;NT GT ./. 1 22818027 . G . . NT END=22827984;NT GT ./. 1 22827931 rs4655071 C T 63 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.599,T/0.401;Gene=ZBTB40/NM_001083621.1/1;CC=c.832-54C>T;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.832-54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:32:0:0:13,21:409,627:0.00,62.89:0.00,43.55:0.00,19.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.8,30.7:0,0:0,0:41,26:110,125:25,18:-,NM_001083621.1(ZBTB40) c.832-54C>T:-,0.41:-,NOT_FOUND 1 22828178 . G . . NT END=22828791;NT GT ./. 1 22828935 . G . . NT END=22832541;NT GT ./. 1 22829283 rs60340685 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5525,A/0.4475;Gene=ZBTB40/NM_001083621.1/1;CC=c.1167+349G>A;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.1167+349G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:5:0:0:0:4,1:135,35:14.32,0.00:0.00,0.00:14.32,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:33.8,0.0:0,0:0,0:89,61:61,90:25,0:NM_001083621.1(ZBTB40) c.1167+349G>A,-:0.45,-:NOT_FOUND,- 1 22832735 . G . . NT END=22834493;NT GT ./. 1 22832743 rs209732 A T 135 nt VT=SNV;PN=T;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.2009,T/0.7991;PC=0.055;Gene=ZBTB40/NM_001083621.1/1;CC=c.1360+9A>T;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.1360+9A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:89:24:0:0:45,44:1359,1408:0.00,135.05:0.00,20.47:0.00,114.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,38.2:0,0:0,0:103,103:47,44:25,22:-,NM_001083621.1(ZBTB40) c.1360+9A>T:-,0.8:-,0.707673 1 22832881 rs72651315 A G 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.9854,G/0.01458;PC=0.003;Gene=ZBTB40/NM_001083621.1/1;CC=c.1360+147A>G;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.1360+147A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:0:0:0:15,7:451,225:0.00,19.87:0.00,0.00:0.00,19.87:0.00,0.97:0.00,0.00:0.00,0.97:60,60:12.1,59.1:0,0:0,0:88,115:62,36:21,26:-,NM_001083621.1(ZBTB40) c.1360+147A>G:-,0.02:-,NOT_FOUND 1 22834631 . g . . NT END=22835022;NT GT ./. 1 22835225 . G . . NT END=22835592;NT GT ./. 1 22835677 rs209729 A G 351 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.1775,G/0.8225;PC=0.005;Gene=ZBTB40/NM_001083621.1/1;CC=c.1784A>G;ProtCh=p.Y595C;VC=Missense;Gene=ZBTB40/NM_014870.3/0;CC=c.1784A>G;ProtCh=p.Y595C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:52:0:0:92:3069:350.73:132.56:218.17:1.00:1.00:1.00:60:45.8:0:0:85:62:39:NM_001083621.1(ZBTB40) c.1784A>G (p.Tyr595Cys),NM_001083621.1(ZBTB40) c.1784A>G (p.Tyr595Cys):0.84,0.84:0.781793,0.781793 1 22835727 . G . . NT END=22837671;NT GT ./. 1 22835781 rs192585160 A T 109 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.9984,T/0.001597;NP=19;Gene=ZBTB40/NM_001083621.1/1;CC=c.1833+55A>T;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.1833+55A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:59:17:0:0:25,34:775,1098:0.00,108.54:0.00,15.89:0.00,92.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.1,56.3:0,0:0,0:95,107:55,38:19,20:-,NM_001083621.1(ZBTB40) c.1833+55A>T:-,0.0018:-,NOT_FOUND 1 22837586 rs71020429 CT C 21 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=CT/0.4776,C/0.5224;DB;DBA=NA;PAF=CT/0.4776,C/0.5224;DB;DBA=NA;PAF=CT/0.4776,C/0.5224;NP=121;Gene=ZBTB40/NM_001083621.1/1;CC=c.1834-69delT;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.1834-69delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:33:36:1:11:24,1,8:809,25,316:0.00,1.14,20.67:0.00,1.17,19.38:0.00,-0.03,1.29:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.75:60,60,60:35.5,23.0,48.2:0,0,3:0,0,0:43,111,31:102,39,119:38,0,25:-,NM_001083621.1(ZBTB40) c.1834-85delT:-,NOT_FOUND:-,NOT_FOUND 1 22837841 . G . . NT END=22838168;NT GT ./. 1 22837849 rs209727 C T 293 nt VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.5164,T/0.4836;Gene=ZBTB40/NM_001083621.1/1;CC=c.2002+9C>T;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.2002+9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:80:32:0:0:1,79:7,2565:0.00,292.59:0.00,83.52:0.00,209.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:119.0,40.8:0,0:0,0:20,82:130,68:0,31:NM_001083621.1(ZBTB40) c.2002+9C>T,NM_001083621.1(ZBTB40) c.2002+9C>T:0.5,0.5:0.466631,0.466631 1 22838628 . G . . NT END=22839416;NT GT ./. 1 22839624 . G . . NT END=22843792;NT GT ./. 1 22843428 rs209722 G A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.513,A/0.487;Gene=ZBTB40/NM_001083621.1/1;CC=c.2669-365G>A;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.2669-365G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:159:18.28:18.28:0.00:1.00:1.00:0.00:60:55.0:0:0:38:113:32:NM_001083621.1(ZBTB40) c.2669-365G>A,NM_001083621.1(ZBTB40) c.2669-365G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 22843958 . G . . NT END=22846553;NT GT ./. 1 22846452 rs7551801 C G 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6408,G/0.3592;Gene=ZBTB40/NM_001083621.1/1;CC=c.2834-102C>G;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.2834-102C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:23:0:0:25:803:92.18:82.93:9.24:1.00:1.00:1.00:60:48.2:0:0:31:120:24:NM_001083621.1(ZBTB40) c.2834-102C>G,NM_001083621.1(ZBTB40) c.2834-102C>G:0.4,0.4:NOT_FOUND,NOT_FOUND 1 22846709 rs209720 G A 316 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.001597,A/0.9984;PC=1.000;Gene=ZBTB40/NM_001083621.1/1;CC=c.2989G>A;ProtCh=p.V997M;VC=Missense;Gene=ZBTB40/NM_014870.3/0;CC=c.2989G>A;ProtCh=p.V997M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:87:48:0:0:87:2751:316.44:112.62:203.82:1.00:1.00:1.00:60:40.5:0:0:89:61:25:NM_001083621.1(ZBTB40) c.2989G>A (p.Val997Met),NM_001083621.1(ZBTB40) c.2989G>A (p.Val997Met):1,1:0.996079,0.996079 1 22846769 . G . . NT END=22847988;NT GT ./. 1 22848152 . G . . NT END=22848869;NT GT ./. 1 22848957 . G . . NT END=22850710;NT GT ./. 1 22848972 rs61769198 A C 172 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.8908,C/0.1092;Gene=ZBTB40/NM_001083621.1/1;CC=c.3298+16A>C;VC=Intron;Gene=ZBTB40/NM_014870.3/0;CC=c.3298+16A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:47:26:0:0:47:1499:172.31:58.29:114.02:1.00:1.00:1.00:60:33.1:0:0:98:42:30:NM_001083621.1(ZBTB40) c.3298+16A>C,NM_001083621.1(ZBTB40) c.3298+16A>C:0.12,0.12:0.174689,0.174689 1 22850938 . G . . NT END=22852694;NT GT ./. 1 22852890 . G . . NT END=22895781;NT GT ./. 1 22895847 . G . . NT END=22902709;NT GT ./. 1 22903374 . G . . NT END=22912972;NT GT ./. 1 22912819 rs639519 T C 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.005791,C/0.9942;NP=2615;Gene=EPHA8/NM_001006943.1/0;CC=c.824-154T>C;VC=Intron;Gene=EPHA8/NM_020526.3/1;CC=c.824-154T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:404:46.57:46.57:0.00:1.00:1.00:0.00:60:47.1:0:0:17:134:17:NM_020526.3(EPHA8) c.824-154T>C,NM_020526.3(EPHA8) c.824-154T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 22912865 rs537426 A G 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5284,G/0.4716;Gene=EPHA8/NM_001006943.1/0;CC=c.824-108A>G;VC=Intron;Gene=EPHA8/NM_020526.3/1;CC=c.824-108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:21:0:0:10,12:321,356:0.00,34.75:0.00,29.83:0.00,4.93:0.00,1.00:0.00,1.00:0.00,0.98:60,60:30.4,53.1:0,0:0,0:35,34:115,116:11,21:-,NM_020526.3(EPHA8) c.824-108A>G:-,0.41:-,NOT_FOUND 1 22913129 . G . . NT END=22915363;NT GT ./. 1 22913153 rs638058 T C 210 nt VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.5148,C/0.4852;Gene=EPHA8/NM_001006943.1/0;CC=c.979+25T>C;VC=Intron;Gene=EPHA8/NM_020526.3/1;CC=c.979+25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:90:39:0:0:60,30:2065,925:210.28,0.00:66.27,0.00:144.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,6.5:0,0:0,0:107,97:42,52:17,26:NM_020526.3(EPHA8) c.979+25T>C,-:0.43,-:0.455482,- 1 22913274 rs66713995 G GGGGT 37 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.7857,GAG/.,GGGGT/0.2123,GGT/0.001997;NP=1;NP=26;Gene=EPHA8/NM_001006943.1/0;CC=c.979+149_979+150insTGGG;VC=Intron;Gene=EPHA8/NM_020526.3/1;CC=c.979+149_979+150insTGGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGGGT:27:1:12:0:15,12:481,389:0.00,36.57:0.00,1.41:0.00,35.16:0.00,1.00:0.00,0.63:0.00,1.00:60,60:22.3,4.8:2,0:0,0:127,59:24,91:16,16:-,NM_020526.3(EPHA8) c.979+146_979+147insGGGT:-,NOT_FOUND:-,NOT_FOUND 1 22915081 rs474152 G A 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5254,A/0.4746;Gene=EPHA8/NM_001006943.1/0;CC=c.980-283G>A;VC=Intron;Gene=EPHA8/NM_020526.3/1;CC=c.980-283G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:7,10:225,345:20.84,0.00:20.84,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:48.6,28.0:0,0:0,0:29,60:122,84:17,22:NM_020526.3(EPHA8) c.980-283G>A,-:0.41,-:NOT_FOUND,- 1 22915201 rs564364706 C T 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=4;PC=0.004;Gene=EPHA8/NM_001006943.1/0;CC=c.980-163C>T;VC=Intron;Gene=EPHA8/NM_020526.3/1;CC=c.980-163C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:35:0:0:23,14:701,475:0.00,43.53:0.00,35.86:0.00,7.67:0.00,1.00:0.00,1.00:0.00,0.95:60,60:26.3,36.6:0,0:0,0:50,19:101,131:34,11:-,NM_020526.3(EPHA8) c.980-163C>T:-,NOT_FOUND:-,NOT_FOUND 1 22915753 rs606002 T C 281 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=192;DB;DBA=NA;PAF=T/0.5182,C/0.4818;PC=0.001;Gene=EPHA8/NM_001006943.1/0;CC=c.1369T>C;ProtCh=p.S457P;VC=Missense;Gene=EPHA8/NM_020526.3/1;CC=c.1315+54T>C;VC=Intron;DM=EPHA8/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:192:113:0:0:93,99:2943,3267:280.85,0.00:106.42,0.00:174.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,5.9:0,0:0,0:82,92:61,57:38,37:NM_020526.3(EPHA8) c.1315+54T>C,-:0.43,-:0.457628,- 1 22915978 rs521570 A T 95 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.5202,T/0.4798;PC=0.010;Gene=EPHA8/NM_001006943.1/0;CC=c.*106A>T;VC=3UTR;Gene=EPHA8/NM_020526.3/1;CC=c.1315+279A>T;VC=Intron;DM=EPHA8/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:62:22:0:0:33,29:1093,995:0.00,94.73:0.00,23.18:0.00,71.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,41.5:0,0:0,0:101,67:49,83:30,23:-,NM_020526.3(EPHA8) c.1315+279A>T:-,0.42:-,NOT_FOUND 1 22916115 . T . . NT END=22919818;NT GT ./. 1 22919944 . G . . NT END=22920016;NT GT ./. 1 22920180 . G . . NT END=22921722;NT GT ./. 1 22921817 . G . . NT END=22922598;NT GT ./. 1 22922667 . G . . NT END=22923804;NT GT ./. 1 22923970 . G . . NT END=22924168;NT GT ./. 1 22924355 . G . . NT END=22924643;NT GT ./. 1 22924706 . G . . NT END=22925330;NT GT ./. 1 22925292 rs664340 C G 276 nt VT=SNV;PN=C;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=NA;Gene=EPHA8/NM_020526.3/1;CC=c.2179-39C>G;VC=Intron;DM=EPHA8/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:85:0:0:86:2364:276.13:227.01:49.11:1.00:1.00:1.00:60:44.9:0:0:35:110:23:NM_020526.3(EPHA8) c.2179-39C>G,NM_020526.3(EPHA8) c.2179-39C>G:1,1:0.999923,0.999923 1 22925541 . G . . NT END=22927153;NT GT ./. 1 22927304 . G . . NT END=22927390;NT GT ./. 1 22927582 . G . . NT END=22927792;NT GT ./. 1 22927967 . G . . NT END=22928119;NT GT ./. 1 22928235 . T . . NT END=22964109;NT GT ./. 1 22964273 . G . . NT END=22965325;NT GT ./. 1 22965438 rs172378 A G 206 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=A/0.3836,G/0.6164;Gene=C1QA/NM_015991.2/1;CC=c.276A>G;ProtCh=p.G92=;VC=Silent;DM=C1QA/Collagen;DM=C1QA/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:157:108:0:0:85,1,71:2789,10,2184:0.00,-0.16,205.53:0.00,-0.05,104.79:0.00,-0.11,100.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.0,139.0,39.4:0,0,0:0,0,0:78,49,90:63,63,53:32,0,30:-,NM_015991.2(C1QA) c.276A>G (p.(=)):-,0.59:-,0.487965 1 22965901 . G . . NT END=22969968;NT GT ./. 1 22969873 rs71660254 TAC T 142 idl,rn VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=61;PC=0.015;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAC,T:55:56:0:52:10,45:320,1548:0.00,141.97:0.00,120.04:0.00,21.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.4,12.6:1,7:0,0:90,50:59,99:45,30:-,NM_001114101.1(C1QC) c.-126-u244_-126-u243delAC:-,NOT_FOUND:-,NOT_FOUND 1 22969875 . C T 8 idl;end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T:10:9:0:54:7,3:188,88:0.00,7.59:0.00,7.89:0.00,-0.31:0.00,0.62:0.00,0.94:0.00,0.69:60,60:24.9,59.7:1,0:0,0:64,1:87,149:50,0:-,NM_001114101.1(C1QC) c.-126-u243C>T:-,NOT_FOUND:-,NOT_FOUND 1 22970231 . G . . NT END=22970503;NT GT ./. 1 22970642 rs15940 C T 402 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.7007,A/.,G/.,T/0.2993;Gene=C1QC/NM_001114101.1/1;CC=c.126C>T;ProtCh=p.P42=;VC=Silent;Gene=C1QC/NM_172369.3/0;CC=c.126C>T;ProtCh=p.P42=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:111:80:0:0:2,1,108:13,7,3541:0.00,0.03,402.32:0.00,0.04,207.12:0.00,-0.00,195.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:138.0,87.0,41.5:0,0,0:0,0,0:91,125,76:58,26,66:28,0,33:NM_001114101.1(C1QC) c.126C>T (p.(=)),NM_001114101.1(C1QC) c.126C>T (p.(=)):0.29,0.29:0.289954,0.289954 1 22970698 . G . . NT END=22973719;NT GT ./. 1 22970828 rs666656 G T 98 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3237,T/0.6763;Gene=C1QC/NM_001114101.1/1;CC=c.181+131G>T;VC=Intron;Gene=C1QC/NM_172369.3/0;CC=c.181+131G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:0:0:0:28:846:97.86:0.00:97.86:1.00:0.00:1.00:60:55.6:0:0:101:49:33:NM_001114101.1(C1QC) c.181+131G>T,NM_001114101.1(C1QC) c.181+131G>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 22970925 rs666537 T C 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4277,C/0.5723;PC=0.001;Gene=C1QC/NM_001114101.1/1;CC=c.181+228T>C;VC=Intron;Gene=C1QC/NM_172369.3/0;CC=c.181+228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:0:0:0:9:273:31.53:0.00:31.53:1.00:0.00:1.00:60:62.2:0:0:115:36:21:NM_001114101.1(C1QC) c.181+228T>C,NM_001114101.1(C1QC) c.181+228T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 22973699 rs36049190 C G 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.9736,G/0.02636;Gene=C1QC/NM_001114101.1/1;CC=c.182-21C>G;VC=Intron;Gene=C1QC/NM_172369.3/0;CC=c.182-21C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:64:61:0:0:29,35:969,1162:0.00,113.72:0.00,87.01:0.00,26.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,38.7:0,0:0,0:54,38:96,106:34,27:-,NM_001114101.1(C1QC) c.182-21C>G:-,0.03:-,0.054732 1 22974277 . G . . NT END=22985949;NT GT ./. 1 22974297 rs9434 C A 379 nt VT=SNV;PN=G;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.4123,A/0.5877,T/.;Gene=C1QC/NM_001114101.1/1;CC=c.*21C>A;VC=3UTR;Gene=C1QC/NM_172369.3/0;CC=c.*21C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:111:43:0:0:111:3267:379.22:98.28:280.94:1.00:1.00:1.00:70:37.1:0:0:114:37:26:NM_001114101.1(C1QC) c.*21C>A,NM_001114101.1(C1QC) c.*21C>A:0.57,0.57:0.512917,0.512917 1 22974379 rs60255495 CCCACCAGATGGACTTCT C 122 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=CCCACCAGATGGACTTCT/0.6236,C/0.3764;DB;DBA=NA;PAF=CCCACCAGATGGACTTCT/0.6236,C/0.3764;NP=239;PC=0.536;Gene=C1QC/NM_001114101.1/1;CC=c.*106_*122delACCAGATGGACTTCTCC;VC=3UTR;Gene=C1QC/NM_172369.3/0;CC=c.*106_*122delACCAGATGGACTTCTCC;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCCACCAGATGGACTTCT,C:47:1:0:37:10,37:280,1145:0.00,121.62:0.00,1.89:0.00,119.73:0.00,1.00:0.00,0.86:0.00,1.00:60,70:31.2,26.6:0,0:0,0:139,100:3,51:8,21:-,NM_001114101.1(C1QC) c.*106_*122delACCAGATGGACTTCTCC:-,0.38:-,NOT_FOUND 1 22974533 rs10601144 CTT C 13 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CTT/0.3391,C/0.6609;NP=61;PC=0.001;Gene=C1QC/NM_001114101.1/1;CC=c.*272_*273delTT;VC=3UTR;Gene=C1QC/NM_172369.3/0;CC=c.*272_*273delTT;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:5:4:144:12.62:0.00:12.62:0.96:0.00:0.96:60:24.8:1:0:114:37:14:NM_001114101.1(C1QC) c.*258T[14],NM_001114101.1(C1QC) c.*258T[14]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 22985785 rs56917855 A AGATGGATG 9 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;Gene=C1QB/NM_000491.3/1;CC=c.-17-112_-17-111insGATGGATG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G,T,AGATGGATG:9:10:4:0:4,1,1,3:117,8,11,128:0.00,0.21,0.46,8.74:0.00,0.21,0.46,8.74:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.00:60,60,60,60:41.2,58.0,11.0,25.7:0,0,0,1:0,0,0,0:97,91,130,38:30,37,21,112:29,0,0,16:-,NM_000491.3(C1QB) c.-17-148_-17-147insGATGGATG:-,NOT_FOUND:-,NOT_FOUND 1 22985816 . T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;NP=13;PC=0.001;Gene=C1QB/NM_000491.3/1;CC=c.-17-117T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,T:12:12:0:0:4,8:132,201:11.81,0.00:11.81,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:60,60:94.5,30.2:0,0:0,0:23,85:120,65:2,26:NM_000491.3(C1QB) c.-17-117T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 22985832 . A G 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;NP=102;Gene=C1QB/NM_000491.3/1;CC=c.-17-101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:A,G,T:13:13:0:0:6,6,1:149,177,11:0.00,16.96,0.35:0.00,16.96,0.35:0.00,0.00,0.00:0.00,0.97,0.00:0.00,0.97,0.00:0.00,0.00,0.00:60,60,60:12.8,83.0,78.0:0,0,0:0,0,0:75,30,98:75,115,52:38,10,0:-,NM_000491.3(C1QB) c.-17-101A>G:-,NOT_FOUND:-,NOT_FOUND 1 22985839 . AGATGGATG A 22 idl,rn VT=DEL;SST=Single;DP=13;NP=28;Gene=C1QB/NM_000491.3/1;CC=c.-17-53_-17-46delGATGGATG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:AGATGGATG,A:11:13:0:9:4,7:91,281:0.00,21.92:0.00,21.92:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:51.5,63.9:0,2:0,0:108,45:42,98:12,19:-,NM_000491.3(C1QB) c.-17-93_-17-86delGATGGATG:-,NOT_FOUND:-,NOT_FOUND 1 22986137 . G . . NT END=22987304;NT GT ./. 1 22987070 rs57114857 T C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8049,C/0.1951;Gene=C1QB/NM_000491.3/1;CC=c.188-235T>C;VC=Intron;DM=C1QB/Collagen;DM=C1QB/Collagen;DM=C1QB/Collagen;DM=C1QB/Collagen;DM=C1QB/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:6:6:0:0:5,1:150,33:16.18,0.00:16.18,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:30.0,55.0:0,0:0,0:22,48:126,103:10,0:NM_000491.3(C1QB) c.188-235T>C,-:0.17,-:NOT_FOUND,- 1 22987880 . C . . NT END=23101039;NT GT ./. 1 22987958 rs10580 A G 158 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.008586,C/.,G/0.9914;NP=2971;Gene=C1QB/NM_000491.3/1;CC=c.*79A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:7:0:0:43:1378:158.14:19.53:138.61:1.00:1.00:1.00:60:46.2:0:0:96:54:40:NM_000491.3(C1QB) c.*79A>G,NM_000491.3(C1QB) c.*79A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 23101133 . G . . NT END=23107913;NT GT ./. 1 23107811 rs71020449 TA T 37 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TA/0.2656,T/0.7344;NP=12;Gene=EPHB2/NM_001309192.1/0;CC=c.62-85delA;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.62-85delA;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.62-85delA;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.62-85delA;VC=Intron;DM=EPHB2/Ephrin_lbd;DM=EPHB2/Ephrin_lbd;DM=EPHB2/Ephrin_lbd;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:TA,I,T:20:22:2:15:6,2,12:156,63,454:0.00,4.90,36.63:0.00,4.90,32.64:0.00,0.00,3.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.81:60,60,60:29.7,0.0,35.0:0,0,3:0,0,0:104,12,30:27,138,121:23,9,17:-,NM_004442.6(EPHB2) c.62-102delA:-,NOT_FOUND:-,NOT_FOUND 1 23107979 . G . . NT END=23110884;NT GT ./. 1 23108089 rs2817904 A G 80 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4249,G/0.5751;PC=0.023;Gene=EPHB2/NM_001309192.1/0;CC=c.126+111A>G;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.126+111A>G;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.126+111A>G;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.126+111A>G;VC=Intron;DM=EPHB2/Ephrin_lbd;DM=EPHB2/Ephrin_lbd;DM=EPHB2/Ephrin_lbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:3:0:0:22:692:79.65:5.67:73.99:1.00:1.00:1.00:60:39.2:0:0:110:41:23:NM_004442.6(EPHB2) c.126+111A>G,NM_004442.6(EPHB2) c.126+111A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 23111570 . G . . NT END=23189529;NT GT ./. 1 23189686 . G . . NT END=23191369;NT GT ./. 1 23191706 . G . . NT END=23208848;NT GT ./. 1 23191746 rs45550439 G T 95 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.9453,A/.,T/0.05471;PC=0.002;Gene=EPHB2/NM_001309192.1/0;CC=c.1303+41G>T;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.1303+41G>T;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.1303+41G>T;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.1303+41G>T;VC=Intron;DM=EPHB2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:59:19:0:0:28,31:932,976:0.00,94.60:0.00,25.70:0.00,68.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,42.4:0,0:0,0:89,107:62,44:36,25:-,NM_004442.6(EPHB2) c.1303+41G>T:-,0.07:-,0.114563 1 23208720 rs309485 C G 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6683,G/0.3317;Gene=EPHB2/NM_001309192.1/0;CC=c.1304-132C>G;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.1304-132C>G;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.1304-132C>G;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.1304-132C>G;VC=Intron;DM=EPHB2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:25:0:0:8,19:256,594:0.00,61.29:0.00,54.38:0.00,6.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,38.1:0,0:0,0:19,52:130,99:8,36:-,NM_004442.6(EPHB2) c.1304-132C>G:-,0.31:-,NOT_FOUND 1 23208925 rs2229872 G A 124 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.7855,A/0.2145;Gene=EPHB2/NM_001309192.1/0;CC=c.1377G>A;ProtCh=p.P459=;VC=Silent;Gene=EPHB2/NM_001309193.1/0;CC=c.1377G>A;ProtCh=p.P459=;VC=Silent;Gene=EPHB2/NM_004442.7/1;CC=c.1377G>A;ProtCh=p.P459=;VC=Silent;Gene=EPHB2/NM_017449.4/0;CC=c.1377G>A;ProtCh=p.P459=;VC=Silent;DM=EPHB2/fn3;DM=EPHB2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:97:76:0:0:40,57:1339,1661:124.50,0.00:55.48,0.00:69.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,12.6:0,0:0,0:76,70:72,73:33,35:NM_004442.6(EPHB2) c.1377G>A (p.(=)),-:0.21,-:0.118022,- 1 23208977 . G . . NT END=23219376;NT GT ./. 1 23219187 rs116119 C T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6426,T/0.3574;Gene=EPHB2/NM_001309192.1/0;CC=c.1429-190C>T;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.1429-190C>T;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.1429-190C>T;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.1429-190C>T;VC=Intron;DM=EPHB2/fn3;DM=EPHB2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:9,9:285,318:0.00,30.68:0.00,30.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.0,49.3:0,0:0,0:38,86:113,64:20,17:-,NM_004442.6(EPHB2) c.1429-190C>T:-,0.37:-,NOT_FOUND 1 23219493 rs309472 T C 585 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=152;DB;DBA=NA;PAF=T/0.001797,A/.,C/0.9982;NP=3482;PC=0.935;Gene=EPHB2/NM_001309192.1/0;CC=c.1545T>C;ProtCh=p.G515=;VC=Silent;Gene=EPHB2/NM_001309193.1/0;CC=c.1545T>C;ProtCh=p.G515=;VC=Silent;Gene=EPHB2/NM_004442.7/1;CC=c.1545T>C;ProtCh=p.G515=;VC=Silent;Gene=EPHB2/NM_017449.4/0;CC=c.1545T>C;ProtCh=p.G515=;VC=Silent;DM=EPHB2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:152:104:0:0:152:5125:584.82:270.17:314.65:1.00:1.00:1.00:60:42.2:0:0:90:56:31:NM_004442.6(EPHB2) c.=,NM_004442.6(EPHB2) c.=:1,1:0.994157,0.994157 1 23219540 . G . . NT END=23221964;NT GT ./. 1 23222074 . G . . NT END=23222903;NT GT ./. 1 23222972 . G . . NT END=23232479;NT GT ./. 1 23223116 rs309466 C T 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.6152,T/0.3848;Gene=EPHB2/NM_001309192.1/0;CC=c.1591+3577C>T;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.1765+145C>T;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.1768+145C>T;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.1765+145C>T;VC=Intron;DM=EPHB2/EphA2_TM;DM=EPHB2/EphA2_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:0:0:0:13,11:415,330:0.00,31.06:0.00,0.00:0.00,31.06:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.2,41.0:0,0:0,0:103,56:48,94:28,24:-,NM_004442.6(EPHB2) c.1768+145C>T:-,0.39:-,NOT_FOUND 1 23228313 rs57503593 A GGTGT 10 idl,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=15;NP=2;NP=2;NP=27;NP=58;PC=0.008;Gene=EPHB2/NM_001309192.1/0;CC=c.1592-4168_1592-4167insGGTG;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.1766-4168_1766-4167insGGTG;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.1769-4168_1769-4167insGGTG;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.1766-4168_1766-4167insGGTG;VC=Intron;DM=EPHB2/EphA2_TM;DM=EPHB2/EphA2_TM;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,T,GGTGT:8:8:5:0:3,2,3:80,69,164:0.00,6.17,9.61:0.00,3.09,4.51:0.00,3.08,5.10:0.00,0.00,0.62:0.00,0.00,0.92:0.00,0.00,0.92:60,60,70:76.7,34.5,20.0:0,0,2:0,0,0:89,32,22:27,70,109:31,1,10:-,NM_004442.6(EPHB2) c.1769-4167delAinsGGTGT:-,NOT_FOUND:-,NOT_FOUND 1 23232400 rs309502 C T 82 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.488,T/0.512;Gene=EPHB2/NM_001309192.1/0;CC=c.1592-80C>T;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.1766-80C>T;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.1769-80C>T;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.1766-80C>T;VC=Intron;DM=EPHB2/EphA2_TM;DM=EPHB2/EphA2_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:60:56:0:0:30,1,29:913,17,857:0.00,0.32,81.70:0.00,0.37,72.76:0.00,-0.05,8.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.7,128.0,48.7:0,0,0:0,0,0:74,21,38:76,130,107:49,0,25:-,NM_004442.6(EPHB2) c.1769-80C>T:-,0.49:-,NOT_FOUND 1 23232603 . G . . NT END=23233202;NT GT ./. 1 23232869 rs309501 G C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4796,C/0.5204;Gene=EPHB2/NM_001309192.1/0;CC=c.1714+267G>C;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.1888+267G>C;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.1891+267G>C;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.1888+267G>C;VC=Intron;DM=EPHB2/Pkinase_Tyr;DM=EPHB2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,G:14:3:0:0:9,5:283,151:28.63,0.00:5.92,0.00:22.71,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:33.7,9.4:0,0:0,0:100,79:51,70:37,12:NM_004442.6(EPHB2) c.1891+267G>C,-:0.53,-:NOT_FOUND,- 1 23233451 . G . . NT END=23234445;NT GT ./. 1 23233600 rs309500 A G 67 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.4541,G/0.5459;Gene=EPHB2/NM_001309192.1/0;CC=c.1962+150A>G;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.2136+150A>G;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.2139+150A>G;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.2136+150A>G;VC=Intron;DM=EPHB2/Pkinase_Tyr;DM=EPHB2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:0:0:0:15,21:433,676:0.00,67.00:0.00,0.00:0.00,67.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.6,43.5:0,0:0,0:106,109:45,42:28,37:-,NM_004442.6(EPHB2) c.2139+150A>G:-,0.55:-,NOT_FOUND 1 23234662 . G . . NT END=23235514;NT GT ./. 1 23234946 rs309499 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4535,G/0.5465;Gene=EPHB2/NM_001309192.1/0;CC=c.2178+285A>G;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.2352+285A>G;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.2355+285A>G;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.2352+285A>G;VC=Intron;DM=EPHB2/Pkinase_Tyr;DM=EPHB2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:94:11.27:0.00:11.27:1.00:0.00:1.00:60:73.0:0:0:128:22:18:NM_004442.6(EPHB2) c.2355+285A>G,NM_004442.6(EPHB2) c.2355+285A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 23235665 . G . . NT END=23236874;NT GT ./. 1 23236826 rs309497 C T 102 nt VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.487,T/0.513;PC=0.011;Gene=EPHB2/NM_001309192.1/0;CC=c.2329-49C>T;VC=Intron;Gene=EPHB2/NM_001309193.1/0;CC=c.2503-49C>T;VC=Intron;Gene=EPHB2/NM_004442.7/1;CC=c.2506-49C>T;VC=Intron;Gene=EPHB2/NM_017449.4/0;CC=c.2503-49C>T;VC=Intron;DM=EPHB2/Pkinase_Tyr;DM=EPHB2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:67:0:0:40,34:1303,1083:0.00,102.32:0.00,85.32:0.00,17.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,39.7:0,0:0,0:42,42:102,108:19,15:-,NM_004442.6(EPHB2) c.2506-49C>T:-,0.5:-,0.582347 1 23237069 . G . . NT END=23238936;NT GT ./. 1 23239093 . G . . NT END=23239954;NT GT ./. 1 23240364 . A . . NT END=23279535;NT GT ./. 1 23268891 rs34193143 TGTGTGC T 15 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=176;PC=0.009;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TGTGTGC,T:5:4:0:4:1,4:34,137:0.00,14.52:0.00,5.42:0.00,9.10:0.00,0.96:0.00,1.00:0.00,0.96:22,60:0.0,48.5:0,0:0,0:36,75:2,50:0,37:-,chr1 g.23268892_23268897delGTGTGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 23268905 rs615458 T C 16 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2817,C/0.7183;NP=5;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:139:15.81:6.12:9.69:1.00:1.00:1.00:60:52.2:4:0:83:42:37:chr1 g.23268904T>C (intergenic),chr1 g.23268904T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 23280424 rs12048993 G T 855 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=237;DB;DBA=NA;PAF=G/0.6056,T/0.3944;PC=1.000;Gene=LACTBL1/NM_001289974.1/1;CC=c.845C>A;ProtCh=p.T282K;VC=Missense;DM=LACTBL1/Beta-lactamase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:237:138:0:0:2,235:18,7444:0.13,855.19:0.05,382.49:0.08,472.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:87.0,42.5:0,0:0,0:104,84:47,66:45,38:XM_003846221.1(LACTBL1) c.1101C>A (p.Asn367Lys),XM_003846221.1(LACTBL1) c.1101C>A (p.Asn367Lys):0.4,0.4:NOT_FOUND,NOT_FOUND 1 23280518 . C . . NT END=23281813;NT GT ./. 1 23281920 . C . . NT END=23285177;NT GT ./. 1 23285414 . C . . NT END=23286434;NT GT ./. 1 23286224 rs11577583 T C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5994,C/0.4006;Gene=LACTBL1/NM_001289974.1/1;CC=c.409+211A>G;VC=Intron;DM=LACTBL1/Beta-lactamase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:5:0:0:5:119:14.23:14.23:0.00:1.00:1.00:0.00:60:52.6:0:0:46:98:23:XM_003846221.1(LACTBL1) c.665+211A>G,XM_003846221.1(LACTBL1) c.665+211A>G:0.45,0.45:NOT_FOUND,NOT_FOUND 1 23286593 . C . . NT END=23289599;NT GT ./. 1 23286752 rs751168 T G 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.596,G/0.404;Gene=LACTBL1/NM_001289974.1/1;CC=c.252-160A>C;VC=Intron;DM=LACTBL1/Beta-lactamase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:0:0:0:23:765:87.45:0.00:87.45:1.00:0.00:1.00:60:57.6:0:0:116:33:18:XM_003846221.1(LACTBL1) c.508-160A>C,XM_003846221.1(LACTBL1) c.508-160A>C:0.46,0.46:NOT_FOUND,NOT_FOUND 1 23289397 rs10799776 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5972,A/0.4028;Gene=LACTBL1/NM_001289974.1/1;CC=c.251+203C>T;VC=Intron;DM=LACTBL1/Beta-lactamase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:60:43.0:0:0:81:69:16:XM_003846221.1(LACTBL1) c.507+203C>T,XM_003846221.1(LACTBL1) c.507+203C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 1 23289568 rs10799777 T C 152 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.5607,C/0.4393;PC=0.001;Gene=LACTBL1/NM_001289974.1/1;CC=c.251+32A>G;VC=Intron;DM=LACTBL1/Beta-lactamase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:40:36:0:0:40:1327:151.70:110.14:41.57:1.00:1.00:1.00:60:41.4:0:0:38:106:21:XM_003846221.1(LACTBL1) c.507+32A>G,XM_003846221.1(LACTBL1) c.507+32A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 23289710 . C . . NT END=23291782;NT GT ./. 1 23291582 rs4655138 G A 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4724,A/0.5276;Gene=LACTBL1/NM_001289974.1/1;CC=c.141+201C>T;VC=Intron;DM=LACTBL1/Beta-lactamase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:334:38.61:38.61:0.00:1.00:1.00:0.00:60:49.2:0:0:41:110:38:XM_003846221.1(LACTBL1) c.397+201C>T,XM_003846221.1(LACTBL1) c.397+201C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 23291919 . C . . NT END=23298797;NT GT ./. 1 23298632 rs71569902 AGATGATGATGATGAT A 47 idl,nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=AGATGATGATGATGAT/0.3169,A/0.6831;DB;DBA=NA;PAF=AGATGATGATGATGAT/0.3169,A/0.6831;NP=269;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:AGATGATGATGATGAT,A:19:22:0:19:4,15:133,533:0.00,47.02:0.00,47.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.8,11.0:0,3:0,0:107,34:39,116:1,12:-,XM_003846221.1(LACTBL1) c.261+151_261+165delATCATCATCATCATC:-,NOT_FOUND:-,NOT_FOUND 1 23298925 . C . . NT END=23299390;NT GT ./. 1 23299145 rs309534 T C 67 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:8:0:0:18:580:66.58:29.51:37.06:1.00:1.00:1.00:60:67.8:0:0:62:88:37:XM_003846221.1(LACTBL1) c.135-221A>G,XM_003846221.1(LACTBL1) c.135-221A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 23299220 rs309535 A G 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.2614,G/0.7386 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:21:0:0:24:674:78.68:67.65:11.03:1.00:1.00:1.00:60:69.3:0:0:56:95:43:XM_003846221.1(LACTBL1) c.134+171T>C,XM_003846221.1(LACTBL1) c.134+171T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 23299279 rs309536 A T 105 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.008187,T/0.9918 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:T:30:30:0:0:30:911:105.37:104.55:0.82:1.00:1.00:1.00:60:63.2:0:0:50:100:31:XM_003846221.1(LACTBL1) c.134+112T>A,XM_003846221.1(LACTBL1) c.134+112T>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 23299407 rs6692248 T C 267 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.2909,C/0.7091;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:C,T:79:59:0:0:78,1:2326,35:266.77,0.00:170.61,0.00:96.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,0.0:0,0:0,0:72,57:73,94:32,0:XM_003846221.1(LACTBL1) c.118A>G (p.Ser40Gly),XM_003846221.1(LACTBL1) c.118A>G (p.Ser40Gly):0.75,0.75:NOT_FOUND,NOT_FOUND 1 23299525 . T . . NT END=23337393;NT GT ./. 1 23299555 rs6700863 G C 230 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.3367,C/0.6633,T/.;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:31:0:0:67:1984:229.99:66.97:163.02:1.00:1.00:1.00:60:39.4:0:0:109:40:22:XM_003846221.1(LACTBL1) c.1-u31C>G,XM_003846221.1(LACTBL1) c.1-u31C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 23299732 rs6689953 A G 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3367,G/0.6633 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:264:30.21:0.00:30.21:1.00:0.00:1.00:60:57.1:0:0:126:23:14:XM_003846221.1(LACTBL1) c.1-u208T>C,XM_003846221.1(LACTBL1) c.1-u208T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 23337595 . C . . NT END=23340375;NT GT ./. 1 23340653 . A . . NT END=23346089;NT GT ./. 1 23346441 . G . . NT END=23356961;NT GT ./. 1 23357128 . G . . NT END=23370919;NT GT ./. 1 23364747 rs56016343 TTGTGTG T 23 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=119;Gene=KDM1A/NM_001009999.2/1;CC=c.518-6141_518-6136delGTGTGT;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.517+7652_517+7657delGTGTGT;VC=Intron;DM=KDM1A/Amino_oxidase;DM=KDM1A/Amino_oxidase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:6:6:197:22.56:11.33:11.23:1.00:1.00:1.00:60:0.0:0:0:67:82:26:NM_001009999.2(KDM1A) c.518-6172_518-6167delTGTGTG,NM_001009999.2(KDM1A) c.518-6172_518-6167delTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 23370980 . G . . NT END=23376879;NT GT ./. 1 23377014 . G . . NT END=23380253;NT GT ./. 1 23380198 rs579785 A G 96 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2504,G/0.7496;Gene=KDM1A/NM_001009999.2/1;CC=c.712-56A>G;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.652-56A>G;VC=Intron;DM=KDM1A/Amino_oxidase;DM=KDM1A/SWIRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:22:0:0:27:836:96.35:70.79:25.56:1.00:1.00:1.00:60:37.7:0:0:33:118:18:NM_001009999.2(KDM1A) c.712-56A>G,NM_001009999.2(KDM1A) c.712-56A>G:0.79,0.79:0.831143,0.831143 1 23380333 . G . . NT END=23381561;NT GT ./. 1 23381655 . G . . NT END=23382424;NT GT ./. 1 23381795 rs201822414 A AT 16 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1188;Gene=KDM1A/NM_001009999.2/1;CC=c.883+141_883+142insT;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.823+141_823+142insT;VC=Intron;DM=KDM1A/Amino_oxidase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,AT:7:0:5:0:2,5:61,158:0.00,16.37:0.00,0.00:0.00,16.37:0.00,0.98:0.00,0.00:0.00,0.98:60,60:14.5,1.4:0,0:0,0:145,141:1,10:0,4:-,NM_001009999.2(KDM1A) c.883+141_883+142insT:-,0.78:-,NOT_FOUND 1 23382532 . G . . NT END=23383976;NT GT ./. 1 23382729 rs763310 A G,T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2504,G/0.7496;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:G,T:4:0:0:0:3,1:90,13:10.05,1.18:0.00,0.00:10.05,1.18:0.85,0.00:0.00,0.00:0.85,0.00:60,60:75.7,64.0:0,0:0,0:113,15:38,136:22,0:NM_001009999.2(KDM1A) c.990+198A>G,NM_001009999.2(KDM1A) c.990+198A>T:0.79,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 23384059 . G . . NT END=23385565;NT GT ./. 1 23384293 rs397933904 C GTT 8 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6881,CT/0.3119,CTT/.,CTTT/.;DB;DBA=NA;PAF=NA;NP=2;NP=8;Gene=KDM1A/NM_001009999.2/1;CC=c.1072+234_1072+235insGT;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.1012+234_1012+235insGT;VC=Intron;DM=KDM1A/Amino_oxidase;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,GTT:4:0:3:0:1,3:34,79:0.00,8.35:0.00,0.00:0.00,8.35:0.00,0.85:0.00,0.00:0.00,0.85:60,70:0.0,49.0:0,0:0,0:139,85:12,65:0,17:-,NM_001009999.2(KDM1A) c.1072+235delCinsGTT:-,NOT_FOUND:-,NOT_FOUND 1 23385661 . G . . NT END=23392552;NT GT ./. 1 23392565 . g . . NT END=23395031;NT GT ./. 1 23395175 . G . . NT END=23395553;NT GT ./. 1 23395645 . G . . NT END=23397717;NT GT ./. 1 23397853 . G . . NT END=23398616;NT GT ./. 1 23398065 rs12409321 C T 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6715,T/0.3285;PC=0.003;Gene=KDM1A/NM_001009999.2/1;CC=c.1548+213C>T;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.1476+213C>T;VC=Intron;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:320:36.77:0.00:36.77:1.00:0.00:1.00:60:34.5:0:0:85:65:28:NM_001009999.2(KDM1A) c.1548+213C>T,NM_001009999.2(KDM1A) c.1548+213C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 1 23398691 . G . . NT END=23399784;NT GT ./. 1 23399897 . G . . NT END=23403720;NT GT ./. 1 23399932 rs967605 C T 80 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.2602,A/.,T/0.7398;Gene=KDM1A/NM_001009999.2/1;CC=c.1734+36C>T;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.1662+36C>T;VC=Intron;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:9:0:0:21:700:80.02:22.86:57.15:1.00:1.00:1.00:60:41.9:0:0:114:37:18:NM_001009999.2(KDM1A) c.1734+36C>T,NM_001009999.2(KDM1A) c.1734+36C>T:0.78,0.78:0.820698,0.820698 1 23403457 . CA C,CAA 9 idl,nt VT=INS;SST=Single;DP=5;PC=0.001;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:22:CAA,C:4:5:3:2:3,1:83,62:9.06,2.58:9.06,2.58:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:14.7,0.0:0,1:0,0:38,84:91,67:3,17:NM_001009999.2(KDM1A) c.1735-263delA,NM_001009999.2(KDM1A) c.1735-263dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 23403854 . G . . NT END=23405482;NT GT ./. 1 23405671 . G . . NT END=23406045;NT GT ./. 1 23405794 rs2072945 A C 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.2576,C/0.7424;Gene=KDM1A/NM_001009999.2/1;CC=c.2055+124A>C;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.1983+124A>C;VC=Intron;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:2:0:0:17:513:59.40:7.35:52.05:1.00:1.00:1.00:60:44.4:0:0:115:36:15:NM_001009999.2(KDM1A) c.2055+124A>C,NM_001009999.2(KDM1A) c.2055+124A>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 23405872 rs2072944 T C 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7149,C/0.2851;Gene=KDM1A/NM_001009999.2/1;CC=c.2056-174T>C;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.1984-174T>C;VC=Intron;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A,C,G:15:6:0:0:1,13,1:11,401,7:0.51,45.49,0.24:0.00,22.29,0.00:0.51,23.20,0.24:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:162.0,43.9,7.0:0,0,0:0,0,0:83,76,0:59,75,151:0,45,0:NM_001009999.2(KDM1A) c.2056-174T>C,NM_001009999.2(KDM1A) c.2056-174T>C:0.33,0.33:NOT_FOUND,NOT_FOUND 1 23406161 . G . . NT END=23407938;NT GT ./. 1 23407712 rs2072943 G C 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3235,C/0.6765;Gene=KDM1A/NM_001009999.2/1;CC=c.2171-227G>C;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.2099-227G>C;VC=Intron;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:183:21.16:21.16:0.00:1.00:1.00:0.00:60:43.3:0:0:20:130:11:NM_001009999.2(KDM1A) c.2171-227G>C,NM_001009999.2(KDM1A) c.2171-227G>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 23408067 . G . . NT END=23408712;NT GT ./. 1 23408860 . G . . NT END=23409671;NT GT ./. 1 23408923 . AT A 18 idl,rn VT=DEL;SST=Single;DP=52;NP=16;Gene=KDM1A/NM_001009999.2/1;CC=c.2445+80delT;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.2373+80delT;VC=Intron;DM=KDM1A/Amino_oxidase;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:AT,G,I,A:50:15:7:8:35,2,5,8:1000,20,211,236:0.00,0.01,11.87,18.39:0.00,-0.17,-1.32,-0.72:0.00,0.18,13.19,19.12:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.86:0.00,0.00,0.00,1.00:60,60,60,60:20.1,126.0,14.6,22.6:1,0,2,0:0,0,0,0:122,83,107,99:18,55,42,51:21,29,12,21:-,NM_001009999.2(KDM1A) c.2445+65delT:-,NOT_FOUND:-,NOT_FOUND 1 23409538 rs2235546 G A 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6711,A/0.3289;PC=0.001;Gene=KDM1A/NM_001009999.2/1;CC=c.2446-134G>A;VC=Intron;Gene=KDM1A/NM_015013.3/0;CC=c.2374-134G>A;VC=Intron;DM=KDM1A/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:469:54.02:54.02:0.00:1.00:1.00:0.00:60:44.6:0:0:52:99:37:NM_001009999.2(KDM1A) c.2446-134G>A,NM_001009999.2(KDM1A) c.2446-134G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 1 23409858 . G . . NT END=23415387;NT GT ./. 1 23410138 rs375222308 T G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4345,G/0.5655;DB;DBA=NA;PAF=NA;PC=0.110;Gene=KDM1A/NM_001009999.2/1;CC=c.*281T>G;VC=3UTR;Gene=KDM1A/NM_015013.3/0;CC=c.*281T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C,G:8:0:0:0:1,7:10,165:0.63,19.35:0.00,0.00:0.63,19.35:0.00,1.00:0.00,0.00:0.00,1.00:60,60:54.0,91.4:0,1:0,0:46,59:105,92:0,45:NM_001009999.2(KDM1A) c.*281T>G,NM_001009999.2(KDM1A) c.*281T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 23410140 rs12139776 G T 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.262,T/0.738;PC=0.002;Gene=KDM1A/NM_001009999.2/1;CC=c.*283G>T;VC=3UTR;Gene=KDM1A/NM_015013.3/0;CC=c.*283G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:1:7:179:21.18:0.00:21.18:1.00:0.00:1.00:60:94.3:0:0:48:103:13:NM_001009999.2(KDM1A) c.*283G>T,NM_001009999.2(KDM1A) c.*283G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 23415102 rs683893 T A,C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2612,C/0.7388;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:4:4:0:0:1,3:10,88:0.88,9.85:0.88,9.85:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:134.0,40.3:0,0:0,0:59,79:59,72:0,46:NM_033631.3(LUZP1) c.*286A>T,NM_033631.3(LUZP1) c.*286A>G:NOT_FOUND,0.78:NOT_FOUND,NOT_FOUND 1 23415547 . C . . NT END=23417682;NT GT ./. 1 23418153 rs10799790 C T 465 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.2538,T/0.7462;PC=0.013;Gene=LUZP1/NM_001142546.1/0;CC=c.2602G>A;ProtCh=p.D868N;VC=Missense;Gene=LUZP1/NM_033631.3/1;CC=c.2602G>A;ProtCh=p.D868N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:129:67:0:0:1,128:12,4051:0.13,465.50:0.13,185.74:0.00,279.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:97.0,39.8:0,0:0,0:120,85:26,61:0,39:NM_033631.3(LUZP1) c.2602G>A (p.Asp868Asn),NM_033631.3(LUZP1) c.2602G>A (p.Asp868Asn):0.79,0.79:0.825696,0.825696 1 23419261 rs477717 G A 473 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=G/0.3095,A/0.6905;Gene=LUZP1/NM_001142546.1/0;CC=c.1494C>T;ProtCh=p.S498=;VC=Silent;Gene=LUZP1/NM_033631.3/1;CC=c.1494C>T;ProtCh=p.S498=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:147:96:0:0:140,2,3,2:4130,41,37,20:472.75,1.92,0.00,0.25:275.58,-0.01,0.00,-0.01:197.18,1.92,0.00,0.26:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:50.0,73.5,27.7,62.0:0,0,0,0:0,0,0,0:80,68,81,113:68,72,64,36:40,5,7,13:NM_033631.3(LUZP1) c.1494C>T (p.(=)),NM_033631.3(LUZP1) c.1494C>T (p.(=)):0.74,0.74:0.769799,0.769799 1 23419374 rs3765407 G T 552 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=G/0.3231,T/0.6769;PC=0.845;Gene=LUZP1/NM_001142546.1/0;CC=c.1381C>A;ProtCh=p.Q461K;VC=Missense;Gene=LUZP1/NM_033631.3/1;CC=c.1381C>A;ProtCh=p.Q461K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:150:108:0:0:1,149:11,4825:0.00,551.51:0.00,296.63:0.00,254.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.0,74.1:0,0:0,0:96,66:53,82:0,33:NM_033631.3(LUZP1) c.1381C>A (p.Gln461Lys),NM_033631.3(LUZP1) c.1381C>A (p.Gln461Lys):0.73,0.73:0.755728,0.755728 1 23419383 rs477830 C T 562 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=C/0.3097,T/0.6903;PC=0.068;Gene=LUZP1/NM_001142546.1/0;CC=c.1372G>A;ProtCh=p.G458S;VC=Missense;Gene=LUZP1/NM_033631.3/1;CC=c.1372G>A;ProtCh=p.G458S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:151:105:0:0:1,1,149:32,6,4934:0.00,0.02,561.53:0.00,0.02,298.53:0.00,-0.00,262.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:45.0,61.0,72.9:0,0,0:0,0,0:149,145,77:1,5,70:0,0,32:NM_033631.3(LUZP1) c.1372G>A (p.Gly458Ser),NM_033631.3(LUZP1) c.1372G>A (p.Gly458Ser):0.74,0.74:0.769875,0.769875 1 23419855 rs1983965 T C 482 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=T/0.2526,A/.,C/0.7474;PC=0.005;Gene=LUZP1/NM_001142546.1/0;CC=c.900A>G;ProtCh=p.T300=;VC=Silent;Gene=LUZP1/NM_033631.3/1;CC=c.900A>G;ProtCh=p.T300=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:136:88:0:0:1,135:10,4187:0.07,482.17:0.07,258.95:0.00,223.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:147.0,38.8:0,0:0,0:99,75:48,75:0,36:NM_033631.3(LUZP1) c.900A>G (p.(=)),NM_033631.3(LUZP1) c.900A>G (p.(=)):0.79,0.79:0.826926,0.826926 1 23420874 . C . . NT END=23519578;NT GT ./. 1 23437126 rs71748373 CAT C 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CAT/0.3213,C/0.6787;NP=2;PC=0.015;Gene=LUZP1/NM_001142546.1/0;CC=c.-225-1508_-225-1507delAT;VC=Intron;Gene=LUZP1/NM_033631.3/1;CC=c.-291-985_-291-984delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CAT,C:4:3:0:3:1,3:36,96:0.00,10.05:0.00,3.40:0.00,6.65:0.00,0.85:0.00,0.99:0.00,0.85:60,60:36.0,9.3:0,0:0,0:28,33:44,105:0,13:-,NM_033631.3(LUZP1) c.-291-985_-291-984delAT:-,NOT_FOUND:-,NOT_FOUND 1 23520713 . G . . NT END=23636946;NT GT ./. 1 23637560 . C . . NT END=23637693;NT GT ./. 1 23637816 . C . . NT END=23640045;NT GT ./. 1 23640196 . C . . NT END=23644975;NT GT ./. 1 23645193 . A . . NT END=23648020;NT GT ./. 1 23648157 . C . . NT END=23650048;NT GT ./. 1 23650032 rs184698286 G C 88 nt VT=SNV;PN=T;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.99,C/0.009984;NP=40;Gene=HNRNPR/NM_001102397.2/0;CC=c.372+17C>G;VC=Intron;Gene=HNRNPR/NM_001102398.2/0;CC=c.675+17C>G;VC=Intron;Gene=HNRNPR/NM_001102399.2/0;CC=c.372+17C>G;VC=Intron;Gene=HNRNPR/NM_001297620.1/0;CC=c.561+17C>G;VC=Intron;Gene=HNRNPR/NM_001297621.1/0;CC=c.196-1876C>G;VC=Intron;Gene=HNRNPR/NM_001297622.1/0;CC=c.258+17C>G;VC=Intron;Gene=HNRNPR/NM_005826.4/1;CC=c.675+17C>G;VC=Intron;DM=HNRNPR/RRM_1;DM=HNRNPR/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:59:54:0:0:29,30:923,984:88.32,0.00:66.33,0.00:21.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,5.1:0,0:0,0:39,45:86,103:29,27:NM_001102398.1(HNRNPR) c.675+17C>G,-:0.0027,-:0.004613,- 1 23650226 . C . . NT END=23660010;NT GT ./. 1 23660125 . C . . NT END=23664246;NT GT ./. 1 23664147 rs75048851 C CA 14 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=4;PC=0.059;Gene=HNRNPR/NM_001102397.2/0;CC=c.81+99_81+100insT;VC=Intron;Gene=HNRNPR/NM_001102398.2/0;CC=c.384+99_384+100insT;VC=Intron;Gene=HNRNPR/NM_001102399.2/0;CC=c.81+99_81+100insT;VC=Intron;Gene=HNRNPR/NM_001297620.1/0;CC=c.384+99_384+100insT;VC=Intron;Gene=HNRNPR/NM_001297621.1/0;CC=c.81+99_81+100insT;VC=Intron;Gene=HNRNPR/NM_001297622.1/0;CC=c.81+99_81+100insT;VC=Intron;Gene=HNRNPR/NM_005826.4/1;CC=c.384+99_384+100insT;VC=Intron;DM=HNRNPR/RRM_1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,CA:12:12:5:0:7,5:238,152:0.00,14.04:0.00,14.04:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:0.0,13.4:0,0:0,0:47,36:104,115:46,19:-,NM_001102398.1(HNRNPR) c.384+99_384+100insT:-,NOT_FOUND:-,NOT_FOUND 1 23664355 . C . . NT END=23664982;NT GT ./. 1 23664511 rs11586100 T G 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5351,G/0.4649;PC=0.020;Gene=HNRNPR/NM_001102397.2/0;CC=c.-27-157A>C;VC=Intron;Gene=HNRNPR/NM_001102398.2/0;CC=c.277-157A>C;VC=Intron;Gene=HNRNPR/NM_001102399.2/0;CC=c.-27-157A>C;VC=Intron;Gene=HNRNPR/NM_001297620.1/0;CC=c.277-157A>C;VC=Intron;Gene=HNRNPR/NM_001297621.1/0;CC=c.-27-157A>C;VC=Intron;Gene=HNRNPR/NM_001297622.1/0;CC=c.-27-157A>C;VC=Intron;Gene=HNRNPR/NM_005826.4/1;CC=c.277-157A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:341:39.31:0.00:39.31:1.00:0.00:1.00:60:40.0:0:0:73:78:39:NM_001102398.1(HNRNPR) c.277-157A>C,NM_001102398.1(HNRNPR) c.277-157A>C:0.52,0.52:NOT_FOUND,NOT_FOUND 1 23665102 . C . . NT END=23667344;NT GT ./. 1 23667502 . T . . NT END=23688461;NT GT ./. 1 23667741 rs2103910 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5355,A/0.4645;Gene=HNRNPR/NM_001102397.2/0;CC=c.-146-2640C>T;VC=Intron;Gene=HNRNPR/NM_001102398.2/0;CC=c.-9-231C>T;VC=Intron;Gene=HNRNPR/NM_001102399.2/0;CC=c.-146-2640C>T;VC=Intron;Gene=HNRNPR/NM_001297620.1/0;CC=c.-9-231C>T;VC=Intron;Gene=HNRNPR/NM_001297621.1/0;CC=c.-146-2640C>T;VC=Intron;Gene=HNRNPR/NM_001297622.1/0;CC=c.-146-2640C>T;VC=Intron;Gene=HNRNPR/NM_005826.4/1;CC=c.-9-231C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:153:17.65:0.00:17.65:1.00:0.00:1.00:60:83.8:0:0:75:75:31:NM_001102398.1(HNRNPR) c.-9-231C>T,NM_001102398.1(HNRNPR) c.-9-231C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 23667751 rs2103911 A C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5347,C/0.4653;PC=1.000;Gene=HNRNPR/NM_001102397.2/0;CC=c.-146-2650T>G;VC=Intron;Gene=HNRNPR/NM_001102398.2/0;CC=c.-9-241T>G;VC=Intron;Gene=HNRNPR/NM_001102399.2/0;CC=c.-146-2650T>G;VC=Intron;Gene=HNRNPR/NM_001297620.1/0;CC=c.-9-241T>G;VC=Intron;Gene=HNRNPR/NM_001297621.1/0;CC=c.-146-2650T>G;VC=Intron;Gene=HNRNPR/NM_001297622.1/0;CC=c.-146-2650T>G;VC=Intron;Gene=HNRNPR/NM_005826.4/1;CC=c.-9-241T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:176:19.98:0.00:19.98:1.00:0.00:1.00:60:83.8:0:0:85:65:31:NM_001102398.1(HNRNPR) c.-9-241T>G,NM_001102398.1(HNRNPR) c.-9-241T>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 23688933 rs2849028 A G 681 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=181;DB;DBA=NA;PAF=A/0.49,G/0.51;PC=0.027;Gene=ZNF436/NM_030634.2/0;CC=c.942T>C;ProtCh=p.N314=;VC=Silent;Gene=ZNF436/NM_001077195.1/1;CC=c.942T>C;ProtCh=p.N314=;VC=Silent;DM=ZNF436/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:181:114:0:0:180,1:5962,10:681.40,0.06:345.51,0.00:335.89,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,51.0:0,0:0,0:77,64:69,87:35,0:NM_001077195.1(ZNF436) c.942T>C (p.(=)),NM_001077195.1(ZNF436) c.942T>C (p.(=)):0.57,0.57:0.577964,0.577964 1 23689715 . C . . NT END=23693534;NT GT ./. 1 23689786 . A AT 15 idl,rn VT=INS;SST=Single;DP=44;PC=0.003;Gene=ZNF436/NM_030634.2/0;CC=c.161-73_161-72insA;VC=Intron;Gene=ZNF436/NM_001077195.1/1;CC=c.161-73_161-72insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,T,AT,D:43:15:6:5:32,1,6,4:1015,33,192,162:0.00,1.82,14.84,9.32:0.00,-0.08,5.40,1.11:0.00,1.89,9.44,8.22:0.00,0.00,0.86,0.00:0.00,0.00,0.81,0.00:0.00,0.00,0.98,0.00:60,60,60,60:7.0,44.0,6.7,2.8:0,0,0,1:0,0,0,0:123,85,113,77:24,66,37,74:17,0,11,34:-,NM_001077195.1(ZNF436) c.161-73_161-72insA:-,NOT_FOUND:-,NOT_FOUND 1 23693422 rs2849025 T C 99 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4786,C/0.5214;PC=0.001;Gene=ZNF436/NM_030634.2/0;CC=c.160+113A>G;VC=Intron;Gene=ZNF436/NM_001077195.1/1;CC=c.160+113A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:26:0:0:26:862:98.60:96.61:1.99:1.00:1.00:1.00:60:35.7:0:0:43:108:32:NM_001077195.1(ZNF436) c.160+113A>G,NM_001077195.1(ZNF436) c.160+113A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 23693662 . C . . NT END=23694465;NT GT ./. 1 23694499 . C . . NT END=23709925;NT GT ./. 1 23709734 rs6658399 C T 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1723,T/0.8277;Gene=TCEA3/NM_003196.2/1;CC=c.1038+1105G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:530:61.05:61.05:0.00:1.00:1.00:0.00:60:47.9:0:0:101:49:38:NM_003196.1(TCEA3) c.1038+1105G>A,NM_003196.1(TCEA3) c.1038+1105G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 23709772 rs10604385 CAA C 26 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=CAA/0.2694,C/0.7306;NP=22;PC=0.314;Gene=TCEA3/NM_003196.2/1;CC=c.1038+1065_1038+1066delTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:CAA,I,C:15:17:1:13:6,1,8:174,17,363:0.00,0.81,26.07:0.00,0.84,26.32:0.00,-0.02,-0.25:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.63:60,40,60:68.0,156.0,88.4:1,0,3:0,0,0:139,54,50:11,97,101:10,0,24:-,NM_003196.1(TCEA3) c.1038+1065_1038+1066delTT:-,NOT_FOUND:-,NOT_FOUND 1 23709869 rs687886 T C 168 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.2101,C/0.7899;Gene=TCEA3/NM_003196.2/1;CC=c.1038+970A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:A,C:49:35:0:0:1,48:11,1456:0.22,167.86:0.00,88.03:0.22,79.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,42.6:0,0:0,0:49,70:102,76:0,30:NM_003196.1(TCEA3) c.1038+970A>G,NM_003196.1(TCEA3) c.1038+970A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 23710052 rs619274 C G 213 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.1114,G/0.8886;PC=0.004;Gene=TCEA3/NM_003196.2/1;CC=c.1038+787G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:42:0:0:58:1856:213.18:133.18:80.00:1.00:1.00:1.00:60:49.8:0:0:47:103:33:NM_003196.1(TCEA3) c.1038+787G>C,NM_003196.1(TCEA3) c.1038+787G>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 23710177 rs686546 A G 458 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=A/0.1052,G/0.8948;Gene=TCEA3/NM_003196.2/1;CC=c.1038+662T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:128:96:0:0:1,126,1:34,4006,9:0.00,457.79,0.06:0.00,253.81,0.06:0.00,203.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.0,40.4,157.0:0,0,0:0,0,0:20,63,114:131,86,37:0,31,0:NM_003196.1(TCEA3) c.1038+662T>C,NM_003196.1(TCEA3) c.1038+662T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 23710475 rs2298632 C T 287 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=167;DB;DBA=NA;PAF=C/0.6308,T/0.3692;PC=0.404;Gene=TCEA3/NM_003196.2/1;CC=c.1038+364G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:167:111:0:0:1,77,89:11,2412,2941:-0.12,0.00,286.78:-0.03,0.00,169.50:-0.09,0.00,117.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:49.0,11.5,38.5:0,0,0:0,0,0:11,71,88:130,79,62:0,36,29:-,NM_003196.1(TCEA3) c.1038+364G>A:-,0.44:-,NOT_FOUND 1 23710805 rs605468 A G 491 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=130;DB;DBA=NA;PAF=A/0.1482,G/0.8518;Gene=TCEA3/NM_003196.2/1;CC=c.1038+34T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:130:59:0:0:130:4290:490.82:152.54:338.28:1.00:1.00:1.00:60:38.6:0:0:81:66:37:NM_003196.1(TCEA3) c.1038+34T>C,NM_003196.1(TCEA3) c.1038+34T>C:0.88,0.88:0.876824,0.876824 1 23710911 . C . . NT END=23713765;NT GT ./. 1 23713626 rs1198445 A G 72 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1482,G/0.8518;PC=0.005;Gene=TCEA3/NM_003196.2/1;CC=c.966+140T>C;VC=Intron;DM=TCEA3/TFIIS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:23:0:0:23:612:72.04:70.15:1.89:1.00:1.00:1.00:60:37.4:0:0:66:84:33:NM_003196.1(TCEA3) c.966+140T>C,NM_003196.1(TCEA3) c.966+140T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 23713913 . C . . NT END=23720371;NT GT ./. 1 23713952 rs676363 T G 307 nt VT=SNV;PN=T;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.148,G/0.852;Gene=TCEA3/NM_003196.2/1;CC=c.820-40A>C;VC=Intron;DM=TCEA3/TFIIS_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:31:0:0:78:2700:307.20:74.96:232.24:1.00:1.00:1.00:60:42.1:0:0:97:49:29:NM_003196.1(TCEA3) c.820-40A>C,NM_003196.1(TCEA3) c.820-40A>C:0.88,0.88:0.879769,0.879769 1 23720185 rs4648892 C T 75 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5461,T/0.4539;Gene=TCEA3/NM_003196.2/1;CC=c.819+187G>A;VC=Intron;DM=TCEA3/TFIIS_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:23:0:0:23:641:74.90:74.90:0.00:1.00:1.00:0.00:60:63.0:0:0:35:116:17:NM_003196.1(TCEA3) c.819+187G>A,NM_003196.1(TCEA3) c.819+187G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 23720260 rs2486078 T G 227 nt VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.1032,G/0.8968;Gene=TCEA3/NM_003196.2/1;CC=c.819+112A>C;VC=Intron;DM=TCEA3/TFIIS_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:G:62:59:0:0:62:1978:227.23:215.61:11.62:1.00:1.00:1.00:60:49.5:0:0:50:99:31:NM_003196.1(TCEA3) c.819+112A>C,NM_003196.1(TCEA3) c.819+112A>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 23720527 . G . . NT END=23724037;NT GT ./. 1 23724095 . C . . NT END=23724284;NT GT ./. 1 23724183 rs2275355 C T 259 nt VT=SNV;PN=A;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.5475,T/0.4525;Gene=TCEA3/NM_003196.2/1;CC=c.608-89G>A;VC=Intron;DM=TCEA3/TFIIS_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:55:0:0:70:2254:258.71:173.43:85.28:1.00:1.00:1.00:60:39.6:0:0:60:89:34:NM_003196.1(TCEA3) c.608-89G>A,NM_003196.1(TCEA3) c.608-89G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 23724449 . C . . NT END=23735156;NT GT ./. 1 23735220 . C . . NT END=23743741;NT GT ./. 1 23735241 rs1198423 G T 101 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.1575,T/0.8425;PC=0.519;Gene=TCEA3/NM_003196.2/1;CC=c.381-22C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A,T:31:14:0:0:1,30:11,874:0.32,101.12:0.00,30.33:0.32,70.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:149.0,38.2:0,0:0,0:32,87:112,62:0,35:NM_003196.1(TCEA3) c.381-22C>A,NM_003196.1(TCEA3) c.381-22C>A:0.86,0.86:0.845907,0.845907 1 23743581 rs2156087 C G 63 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.475,G/0.525;PC=0.322;Gene=TCEA3/NM_003196.2/1;CC=c.380+161G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:536:62.53:62.53:0.00:1.00:1.00:0.00:60:41.6:0:0:70:80:40:NM_003196.1(TCEA3) c.380+161G>C,NM_003196.1(TCEA3) c.380+161G>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 23743884 . C . . NT END=23744396;NT GT ./. 1 23744169 rs3795295 A G 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6775,G/0.3225;Gene=TCEA3/NM_003196.2/1;CC=c.238+228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:11:0:0:8,8:222,258:0.00,24.82:0.00,18.35:0.00,6.47:0.00,1.00:0.00,1.00:0.00,0.96:60,60:23.9,57.9:0,0:0,0:71,57:77,93:25,23:-,NM_003196.1(TCEA3) c.238+228T>C:-,0.4:-,NOT_FOUND 1 23744503 . C . . NT END=23745569;NT GT ./. 1 23745633 . C . . NT END=23751057;NT GT ./. 1 23751135 . G . . NT END=23756348;NT GT ./. 1 23751140 rs71514235 G T 243 nt VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.5543,T/0.4457;PC=0.767;Gene=TCEA3/NM_003196.2/1;CC=c.-14C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:T:63:49:0:0:63:2130:242.97:122.84:120.14:1.00:1.00:1.00:60:38.9:0:0:91:53:25:NM_003196.1(TCEA3) c.-14C>A,NM_003196.1(TCEA3) c.-14C>A:0.51,0.51:0.531873,0.531873 1 23751669 . CGTGTGT C 12 rn VT=DEL;SST=Single;DP=6;PC=0.903;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CGTGTGT,C:5:4:0:5:1,4:34,148:0.00,12.32:0.00,4.87:0.00,7.45:0.00,0.93:0.00,0.99:0.00,0.97:60,60:12.0,29.8:0,1:0,0:142,50:9,91:0,5:-,NM_003196.1(TCEA3) c.-135-u414_-135-u409delACACAC:-,NOT_FOUND:-,NOT_FOUND 1 23756155 rs1198432 T C 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.129,C/0.871;Gene=ASAP3/NM_001143778.1/0;CC=c.*194A>G;VC=3UTR;Gene=ASAP3/NM_017707.3/1;CC=c.*194A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:388:44.05:42.01:2.04:1.00:1.00:1.00:60:37.5:0:0:44:106:28:NM_017707.3(ASAP3) c.*194A>G,NM_017707.3(ASAP3) c.*194A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 23756424 . C . . NT END=23757527;NT GT ./. 1 23757619 . C . . NT END=23758188;NT GT ./. 1 23758134 rs1198434 A G 139 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.129,G/0.871;Gene=ASAP3/NM_001143778.1/0;CC=c.2519+55T>C;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.2546+55T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:36:0:0:39:1202:138.70:116.09:22.61:1.00:1.00:1.00:60:42.3:0:0:28:122:18:NM_017707.3(ASAP3) c.2546+55T>C,NM_017707.3(ASAP3) c.2546+55T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 23758412 . C . . NT END=23759569;NT GT ./. 1 23758496 rs200506893 G GAT 7 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5034,TA/0.4966;DB;DBA=NA;PAF=NA;NP=15;PC=0.012;Gene=ASAP3/NM_001143778.1/0;CC=c.2297-86_2297-85insAT;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.2324-86_2324-85insAT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,G,GAT,D:30:2:4:1:1,24,4,1:8,712,103,17:-0.18,0.00,7.23,0.42:-0.02,0.00,-0.09,-0.02:-0.15,0.00,7.32,0.44:0.00,0.00,0.64,0.00:0.00,0.00,0.37,0.00:0.00,0.00,0.95,0.00:60,60,60,60:145.0,41.4,3.5,30.0:0,11,0,0:0,0,0,0:82,94,99,80:60,34,51,71:0,37,13,0:-,NM_017707.3(ASAP3) c.2324-86_2324-85insAT:-,0.7:-,NOT_FOUND 1 23758498 . T TA 23 nt VT=INS;SST=Single;DP=29;NP=113;Gene=ASAP3/NM_001143778.1/0;CC=c.2297-88_2297-87insT;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.2324-88_2324-87insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:29:2:9:2:20,9:533,260:0.00,22.52:0.00,-0.24:0.00,22.76:0.00,0.99:0.00,0.60:0.00,1.00:60,60:44.0,24.8:4,0:0,0:124,73:26,78:26,36:-,NM_017707.3(ASAP3) c.2324-88_2324-87insT:-,0.7:-,NOT_FOUND 1 23758499 rs72661455 T A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=202;Gene=ASAP3/NM_001143778.1/0;CC=c.2297-88A>T;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.2324-88A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:26:0:0:1:9,1,16:223,11,430:19.46,0.09,0.00:0.00,0.00,0.00:19.46,0.09,0.00:0.99,0.00,0.00:0.00,0.00,0.00:0.99,0.00,0.00:60,60,60:72.9,141.0,22.8:0,0,14:0,0,0:125,136,76:26,3,74:15,0,34:NM_017707.3(ASAP3) c.2324-88A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 23759766 . C . . NT END=23759854;NT GT ./. 1 23760026 . C . . NT END=23760118;NT GT ./. 1 23760187 . C . . NT END=23760746;NT GT ./. 1 23760408 rs1207124 A G 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.09984,G/0.9002;Gene=ASAP3/NM_001143778.1/0;CC=c.1925-222T>C;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.1952-222T>C;VC=Intron;DM=ASAP3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:1:0:0:8:271:30.92:3.68:27.24:1.00:1.00:1.00:60:40.8:0:0:91:60:16:NM_017707.3(ASAP3) c.1952-222T>C,NM_017707.3(ASAP3) c.1952-222T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 23760863 . C . . NT END=23761025;NT GT ./. 1 23761112 . C . . NT END=23762343;NT GT ./. 1 23762522 . C . . NT END=23763052;NT GT ./. 1 23762679 rs12401753 A G 61 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4704,G/0.5296;PC=0.022;Gene=ASAP3/NM_001143778.1/0;CC=c.1545-158T>C;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.1572-158T>C;VC=Intron;DM=ASAP3/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:538:61.39:0.00:61.39:1.00:0.00:1.00:60:60.0:0:0:89:62:39:NM_017707.3(ASAP3) c.1572-158T>C,NM_017707.3(ASAP3) c.1572-158T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 1 23763148 . C . . NT END=23763403;NT GT ./. 1 23763538 . C . . NT END=23763622;NT GT ./. 1 23763814 . C . . NT END=23763916;NT GT ./. 1 23763966 . C . . NT END=23765239;NT GT ./. 1 23764149 rs2297841 C G 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3594,G/0.6406;PC=0.002;Gene=ASAP3/NM_001143778.1/0;CC=c.1076-184G>C;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.1103-184G>C;VC=Intron;DM=ASAP3/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:404:46.12:0.00:46.12:1.00:0.00:1.00:60:33.7:0:0:129:21:17:NM_017707.3(ASAP3) c.1103-184G>C,NM_017707.3(ASAP3) c.1103-184G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 23765328 . C . . NT END=23765653;NT GT ./. 1 23765472 rs1767148 A G 89 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.13,G/0.87;PC=0.013;Gene=ASAP3/NM_001143778.1/0;CC=c.988-145T>C;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.1015-145T>C;VC=Intron;DM=ASAP3/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:7:0:0:24:776:89.04:23.53:65.51:1.00:1.00:1.00:60:41.0:0:0:85:64:35:NM_017707.3(ASAP3) c.1015-145T>C,NM_017707.3(ASAP3) c.1015-145T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 23765724 . C . . NT END=23767594;NT GT ./. 1 23767711 . C . . NT END=23767879;NT GT ./. 1 23767967 . C . . NT END=23768147;NT GT ./. 1 23768224 . C . . NT END=23768678;NT GT ./. 1 23768765 . C . . NT END=23768993;NT GT ./. 1 23769129 . C . . NT END=23777971;NT GT ./. 1 23769359 rs946269 T C 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3602,C/0.6398;Gene=ASAP3/NM_001143778.1/0;CC=c.424-231A>G;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.474-254A>G;VC=Intron;DM=ASAP3/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:398:46.00:0.00:46.00:1.00:0.00:1.00:60:36.5:0:0:102:48:21:NM_017707.3(ASAP3) c.474-254A>G,NM_017707.3(ASAP3) c.474-254A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 23778022 . C . . NT END=23779189;NT GT ./. 1 23779265 . C . . NT END=23782373;NT GT ./. 1 23782520 . C . . NT END=23782614;NT GT ./. 1 23782688 . C . . NT END=23810497;NT GT ./. 1 23810360 rs6686497 T C 130 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.5481,C/0.4519;PC=0.001;Gene=ASAP3/NM_001143778.1/0;CC=c.129+138A>G;VC=Intron;Gene=ASAP3/NM_017707.3/1;CC=c.129+138A>G;VC=Intron;DM=ASAP3/BAR_3;DM=ASAP3/ArfGap;DM=ASAP3/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:C:38:38:0:0:38:1115:129.55:129.55:0.00:1.00:1.00:0.00:60:48.9:0:0:44:107:26:NM_017707.3(ASAP3) c.129+138A>G,NM_017707.3(ASAP3) c.129+138A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 23810627 . G . . NT END=23836371;NT GT ./. 1 23810658 rs71514236 G A 361 nt VT=SNV;PN=G;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.5461,A/0.4539;PC=0.359;Gene=ASAP3/NM_001143778.1/0;CC=c.-32C>T;VC=5UTR;Gene=ASAP3/NM_017707.3/1;CC=c.-32C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:101:48:0:0:100,1:3137,7:360.66,0.05:113.39,0.00:247.28,0.05:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,48.0:0,0:0,0:87,3:60,148:34,0:NM_017707.3(ASAP3) c.-32C>T,NM_017707.3(ASAP3) c.-32C>T:0.52,0.52:0.687517,0.687517 1 23836364 rs2075993 A G 399 nt VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.6512,G/0.3488;Gene=E2F2/NM_004091.3/1;CC=c.*8T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:117:92:0:0:117:3439:398.87:229.36:169.51:1.00:1.00:1.00:60:40.4:0:0:55:95:33:NM_004091.3(E2F2) c.*8T>C,NM_004091.3(E2F2) c.*8T>C:0.42,0.42:0.380114,0.380114 1 23836641 . C . . NT END=23842826;NT GT ./. 1 23843020 . C . . NT END=23845507;NT GT ./. 1 23845623 . G . . NT END=23847404;NT GT ./. 1 23847464 rs2075995 C A 592 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=162;DB;DBA=NA;PAF=C/0.6448,A/0.3552;PC=0.943;Gene=E2F2/NM_004091.3/1;CC=c.678G>T;ProtCh=p.Q226H;VC=Missense;DM=E2F2/E2F_CC-MB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:162:120:0:0:162:5149:591.80:320.92:270.89:1.00:1.00:1.00:60:36.5:0:0:69:75:33:NM_004091.3(E2F2) c.678G>T (p.Gln226His),NM_004091.3(E2F2) c.678G>T (p.Gln226His):0.42,0.42:0.375827,0.375827 1 23847564 . C . . NT END=23848063;NT GT ./. 1 23847709 rs2075996 C G 130 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.4908,G/0.5092;Gene=E2F2/NM_004091.3/1;CC=c.579-146G>C;VC=Intron;DM=E2F2/E2F_TDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:G:38:2:0:0:38:1118:129.59:7.55:122.04:1.00:1.00:1.00:60:40.3:0:0:96:54:31:NM_004091.3(E2F2) c.579-146G>C,NM_004091.3(E2F2) c.579-146G>C:0.53,0.53:NOT_FOUND,NOT_FOUND 1 23847971 rs2038026 T C 178 nt VT=SNV;PN=T;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.4908,C/0.5092;Gene=E2F2/NM_004091.3/1;CC=c.578+358A>G;VC=Intron;DM=E2F2/E2F_TDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:C:48:47:0:0:48:1552:178.05:167.82:10.23:1.00:1.00:1.00:60:64.6:0:0:44:106:31:NM_004091.3(E2F2) c.578+358A>G,NM_004091.3(E2F2) c.578+358A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 23848042 rs2038027 A G 321 nt VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.378,G/0.622;Gene=E2F2/NM_004091.3/1;CC=c.578+287T>C;VC=Intron;DM=E2F2/E2F_TDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:91:82:0:0:1,90:10,2799:0.00,320.89:0.00,248.13:0.00,72.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:116.0,53.8:0,0:0,0:85,56:66,93:0,29:NM_004091.3(E2F2) c.578+287T>C,NM_004091.3(E2F2) c.578+287T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 1 23848104 . T . . NT END=23848141;NT GT ./. 1 23848219 . T . . NT END=23848328;NT GT ./. 1 23848549 . C . . NT END=23850874;NT GT ./. 1 23850981 . C . . NT END=23857033;NT GT ./. 1 23853343 rs61594552 G GCACA 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=22;NP=37;Gene=E2F2/NM_004091.3/1;CC=c.253-2364_253-2363insTGTG;VC=Intron;Gene=LOC101928163/NR_110799.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,GCACA:4:3:3:0:2,2:71,71:0.00,6.51:0.00,3.35:0.00,3.16:0.00,0.46:0.00,0.80:0.00,0.46:60,60:29.5,6.0:0,1:0,0:82,80:56,60:33,23:-,NM_004091.3(E2F2) c.253-2364_253-2363insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 23857286 . A . . NT END=23885450;NT GT ./. 1 23861232 rs2999143 T C 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.004992,C/0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:130:14.91:11.53:3.38:1.00:1.00:1.00:70:77.0:0:0:41:93:24:NM_004091.3(E2F2) c.-427-u3520A>G,NM_004091.3(E2F2) c.-427-u3520A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 23861263 . CACACACAT C 10 nt VT=DEL;SST=Single;DP=4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CACACACAT,C:4:4:0:4:1,3:35,99:0.00,10.35:0.00,8.53:0.00,1.83:0.00,0.85:0.00,0.85:0.00,0.83:60,70:128.0,30.3:0,0:0,0:133,37:17,89:0,30:-,NM_004091.3(E2F2) c.-427-u3559_-427-u3552delATGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 23885498 rs11574 T C 101 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.1096,C/0.8904;Gene=ID3/NM_002167.4/1;CC=c.313A>G;ProtCh=p.T105A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:70:51:0:0:1,33,36:12,1056,1075:-0.01,100.59,0.00:0.08,55.09,0.00:-0.09,45.50,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:159.0,45.1,6.1:0,0,0:0,0,0:144,92,62:7,56,85:0,30,38:NM_002167.4(ID3) c.313A>G (p.Thr105Ala),-:0.86,-:0.821928,- 1 23885511 . C . . NT END=23885617;NT GT ./. 1 23885918 . G . . NT END=24018313;NT GT ./. 1 23886073 rs2742946 T C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.5649,C/0.4351;PC=0.568;Gene=ID3/NM_002167.4/1;CC=c.-156A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:7,15:221,481:19.46,0.00:0.00,0.00:19.46,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:42.6,4.7:0,0:0,0:114,122:37,29:25,14:NM_002167.4(ID3) c.-156A>G,-:0.45,-:NOT_FOUND,- 1 23893864 rs10654678 A AGT 6 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3;NP=4;NP=4;NP=56;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AGT:4:6:4:0:2,2:70,124:0.00,6.45:0.00,3.14:0.00,3.31:0.00,0.42:0.00,0.42:0.00,0.73:60,60:21.5,79.5:0,2:0,0:80,48:38,102:26,11:-,chr1 g.23893864_23893865insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 24018277 rs10917413 C G 230 nt VT=SNV;PN=T;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.02316,G/0.9768;PC=0.922;Gene=RPL11/NM_000975.3/1;CC=c.-37C>G;VC=5UTR;Gene=RPL11/NM_001199802.1/0;CC=c.-37C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G:60:47:0:0:60:2016:230.19:128.96:101.23:1.00:1.00:1.00:60:35.0:0:0:47:91:27:NM_000975.3(RPL11) c.-37C>G,NM_000975.3(RPL11) c.-37C>G:0.96,0.96:0.983854,0.983854 1 24018320 . G . . NT END=24019098;NT GT ./. 1 24019250 . G . . NT END=24020296;NT GT ./. 1 24019390 rs556383940 CT C 40 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=CT/0.6707,C/0.3293;DB;DBA=NA;PAF=CT/0.6707,C/0.3293;NP=3;Gene=RPL11/NM_000975.3/1;CC=c.157+157delT;VC=Intron;Gene=RPL11/NM_001199802.1/0;CC=c.154+157delT;VC=Intron;DM=RPL11/Ribosomal_L5;DM=RPL11/Ribosomal_L5;DM=RPL11/Ribosomal_L5;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:26:0:0:16:12,14:317,479:0.00,40.38:0.00,0.00:0.00,40.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.8,24.6:0,2:0,0:128,107:22,43:18,14:-,NM_000975.3(RPL11) c.157+142delT:-,NOT_FOUND:-,NOT_FOUND 1 24020404 . G . . NT END=24021149;NT GT ./. 1 24021282 . G . . NT END=24022287;NT GT ./. 1 24022104 rs10799803 C T 100 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.02316,T/0.9768;Gene=RPL11/NM_000975.3/1;CC=c.397-184C>T;VC=Intron;Gene=RPL11/NM_001199802.1/0;CC=c.394-184C>T;VC=Intron;DM=RPL11/Ribosomal_L5_C;DM=RPL11/Ribosomal_L5_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:28:0:0:28:868:100.13:100.13:0.00:1.00:1.00:0.00:60:66.1:0:0:45:104:20:NM_000975.3(RPL11) c.397-184C>T,NM_000975.3(RPL11) c.397-184C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24022108 rs190085468 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.9938,G/0.00619;NP=8;Gene=RPL11/NM_000975.3/1;CC=c.397-180A>G;VC=Intron;Gene=RPL11/NM_001199802.1/0;CC=c.394-180A>G;VC=Intron;DM=RPL11/Ribosomal_L5_C;DM=RPL11/Ribosomal_L5_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:29:0:0:14,15:403,492:0.00,47.63:0.00,47.63:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.5,87.3:0,0:0,0:50,48:100,103:30,16:-,NM_000975.3(RPL11) c.397-180A>G:-,0.01:-,NOT_FOUND 1 24022399 . G . . NT END=24022833;NT GT ./. 1 24022437 rs2280437 A G 116 nt VT=SNV;PN=G;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.6663,C/.,G/0.3337;PC=0.613;Gene=RPL11/NM_000975.3/1;CC=c.507+39A>G;VC=Intron;Gene=RPL11/NM_001199802.1/0;CC=c.504+39A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:75:13:0:0:37,38:1158,1209:0.00,116.41:0.00,12.49:0.00,103.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,39.8:0,0:0,0:106,100:45,50:19,23:-,NM_000975.3(RPL11) c.507+39A>G:-,0.37:-,0.333462 1 24022864 . A . . NT END=24069915;NT GT ./. 1 24023132 rs4649111 G A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7636,A/0.2364;PC=0.157 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:4:0:0:0:3,1:106,30:11.05,0.00:0.00,0.00:11.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:67.7,0.0:0,0:0,0:82,147:68,3:50,0:chr1 g.24023131G>A (intergenic),-:0.26,-:NOT_FOUND,- 1 24070069 . G . . NT END=24075510;NT GT ./. 1 24075568 . G . . NT END=24076331;NT GT ./. 1 24076439 . G . . NT END=24077334;NT GT ./. 1 24078521 . G . . NT END=24078896;NT GT ./. 1 24079009 . G . . NT END=24080589;NT GT ./. 1 24080746 . G . . NT END=24080852;NT GT ./. 1 24080951 . G . . NT END=24082332;NT GT ./. 1 24082269 rs397733287 C CA 25 idl,rn VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=7;PC=0.009;Gene=TCEB3/NM_003198.2/1;CC=c.1870-48_1870-47insA;VC=Intron;DM=TCEB3/Elongin_A;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,CA,D:60:60:11:8:44,11,5:1295,318,244:0.00,25.07,10.52:0.00,25.32,8.45:0.00,-0.25,2.07:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.70,0.00:60,60,60:46.9,44.5,30.2:0,0,3:0,0,0:58,26,21:93,123,123:41,18,15:-,NM_003198.2(TCEB3) c.1870-64_1870-63insA:-,NOT_FOUND:-,NOT_FOUND 1 24082286 rs10917422 T A 98 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.7977,A/0.2023;NP=183;Gene=TCEB3/NM_003198.2/1;CC=c.1870-47T>A;VC=Intron;DM=TCEB3/Elongin_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:70:64:0:5:32,1,1,36:1034,11,12,998:98.32,-0.05,-0.01,0.00:88.63,0.00,0.04,0.00:9.69,-0.06,-0.06,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:65.0,87.0,40.0,23.6:0,0,0,0:0,0,0,0:29,125,128,42:116,23,22,99:13,0,0,23:NM_003198.2(TCEB3) c.1870-47T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 24082514 . G . . NT END=24082763;NT GT ./. 1 24082876 . G . . NT END=24083442;NT GT ./. 1 24083494 rs2076345 C T 159 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.7995,T/0.2005;PC=1.000;Gene=TCEB3/NM_003198.2/1;CC=c.2214C>T;ProtCh=p.S738=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:123:85:0:0:69,1,53:2268,18,1696:0.00,0.15,158.65:0.00,0.27,79.71:0.00,-0.11,78.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.5,128.0,35.9:0,0,0:0,0,0:65,79,64:85,72,87:31,0,31:-,NM_003198.2(TCEB3) c.2214C>T (p.(=)):-,0.24:-,0.248808 1 24083616 . G . . NT END=24086001;NT GT ./. 1 24086064 . A . . NT END=24105005;NT GT ./. 1 24105204 . G . . NT END=24105927;NT GT ./. 1 24105972 . G . . NT END=24106353;NT GT ./. 1 24106432 . G . . NT END=24112164;NT GT ./. 1 24112270 . G . . NT END=24112804;NT GT ./. 1 24112914 . G . . NT END=24113747;NT GT ./. 1 24113867 . G . . NT END=24119136;NT GT ./. 1 24119251 . G . . NT END=24119497;NT GT ./. 1 24119530 . G . . NT END=24119640;NT GT ./. 1 24119707 . G . . NT END=24120194;NT GT ./. 1 24120243 . G . . NT END=24120349;NT GT ./. 1 24120421 . G . . NT END=24120552;NT GT ./. 1 24120627 . G . . NT END=24120713;NT GT ./. 1 24120816 . G . . NT END=24120916;NT GT ./. 1 24121091 . G . . NT END=24121171;NT GT ./. 1 24121223 . C . . NT END=24122438;NT GT ./. 1 24122498 . C . . NT END=24122640;NT GT ./. 1 24122756 . C . . NT END=24122998;NT GT ./. 1 24123273 . C . . NT END=24123365;NT GT ./. 1 24123433 . C . . NT END=24123523;NT GT ./. 1 24123638 . C . . NT END=24124184;NT GT ./. 1 24124362 . C . . NT END=24124606;NT GT ./. 1 24124721 . C . . NT END=24125104;NT GT ./. 1 24124801 rs372075997 C CT 8 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;Gene=GALE/NM_001127621.1/0;CC=c.238-82_238-81insA;VC=Intron;Gene=GALE/NM_000403.3/0;CC=c.238-82_238-81insA;VC=Intron;Gene=GALE/NM_001008216.1/1;CC=c.238-82_238-81insA;VC=Intron;DM=GALE/GDP_Man_Dehyd;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,CT,D:20:5:4:3:13,4,3:412,99,90:0.00,7.76,7.05:0.00,1.99,2.71:0.00,5.77,4.33:0.00,0.71,0.00:0.00,0.66,0.00:0.00,0.95,0.00:60,60,60:9.2,44.8,43.0:0,0,0:0,0,0:108,74,92:43,54,59:19,23,4:-,NM_001008216.1(GALE) c.238-82_238-81insA:-,NOT_FOUND:-,NOT_FOUND 1 24125221 . C . . NT END=24125376;NT GT ./. 1 24125498 . G . . NT END=24128952;NT GT ./. 1 24129055 . C . . NT END=24130889;NT GT ./. 1 24129126 rs2076343 A G 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7897,G/0.2103;PC=0.474;Gene=HMGCL/NM_000191.2/1;CC=c.877-72T>C;VC=Intron;Gene=HMGCL/NM_001166059.1/0;CC=c.664-72T>C;VC=Intron;DM=HMGCL/HMGL-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:8:0:0:13,12:403,413:0.00,39.53:0.00,4.64:0.00,34.89:0.00,1.00:0.00,0.99:0.00,1.00:60,60:4.8,43.3:0,0:0,0:117,113:34,38:15,25:-,NM_000191.2(HMGCL) c.877-72T>C:-,0.25:-,NOT_FOUND 1 24131016 . C . . NT END=24134624;NT GT ./. 1 24134462 rs719399 C T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1124,T/0.8876;Gene=HMGCL/NM_000191.2/1;CC=c.750+163G>A;VC=Intron;Gene=HMGCL/NM_001166059.1/0;CC=c.537+163G>A;VC=Intron;DM=HMGCL/HMGL-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,T:9:9:0:0:4,5:138,131:0.00,12.76:0.00,12.93:0.00,-0.18:0.00,0.96:0.00,0.96:0.00,0.70:60,60:28.5,36.2:0,0:0,0:68,27:82,123:19,11:-,NM_000191.2(HMGCL) c.750+163G>A:-,0.9:-,NOT_FOUND 1 24134721 rs719400 T C 142 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=in-clinvar;PAF=T/0.1126,C/0.8874;PC=0.303;Gene=HMGCL/NM_000191.2/1;CC=c.654A>G;ProtCh=p.L218=;VC=Silent;Gene=HMGCL/NM_001166059.1/0;CC=c.441A>G;ProtCh=p.L147=;VC=Silent;DM=HMGCL/HMGL-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:82:58:0:0:44,38:1453,1176:141.66,0.00:71.71,0.00:69.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,6.2:0,0:0,0:83,87:61,57:25,26:NM_000191.2(HMGCL) c.654A>G (p.(=)),-:0.9,-:0.926265,- 1 24134814 . C . . NT END=24137225;NT GT ./. 1 24137290 . C . . NT END=24140679;NT GT ./. 1 24140829 . C . . NT END=24143164;NT GT ./. 1 24141011 rs11591205 C T 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7943,T/0.2057;Gene=HMGCL/NM_000191.2/1;CC=c.349-183G>A;VC=Intron;Gene=HMGCL/NM_001166059.1/0;CC=c.348+2154G>A;VC=Intron;DM=HMGCL/HMGL-like;DM=HMGCL/HMGL-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:11,9:299,301:0.00,28.44:0.00,0.00:0.00,28.44:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.6,35.8:0,0:0,0:106,99:45,52:28,21:-,NM_000191.2(HMGCL) c.349-183G>A:-,0.24:-,NOT_FOUND 1 24143261 . C . . NT END=24143965;NT GT ./. 1 24143932 rs2076344 A G 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1122,G/0.8878;Gene=HMGCL/NM_000191.2/1;CC=c.252+34T>C;VC=Intron;Gene=HMGCL/NM_001166059.1/0;CC=c.252+34T>C;VC=Intron;DM=HMGCL/HMGL-like;DM=HMGCL/HMGL-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:16:0:0:10,10:341,314:0.00,30.15:0.00,24.85:0.00,5.30:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.2,45.0:0,0:0,0:35,26:115,124:19,21:-,NM_000191.2(HMGCL) c.252+34T>C:-,0.89:-,0.926495 1 24144074 . C . . NT END=24146999;NT GT ./. 1 24147084 . C . . NT END=24151845;NT GT ./. 1 24151906 . C . . NT END=24172204;NT GT ./. 1 24151996 rs6697805 C A 135 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.6072,A/0.3928 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A,C:38:4:0:0:37,1:1192,30:134.78,0.00:5.79,0.00:128.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,68.0:0,0:0,0:106,135:43,2:32,0:NM_000191.2(HMGCL) c.-44-u47G>T,NM_000191.2(HMGCL) c.-44-u47G>T:0.41,0.41:NOT_FOUND,NOT_FOUND 1 24172346 . C . . NT END=24172563;NT GT ./. 1 24172664 . C . . NT END=24175138;NT GT ./. 1 24172765 rs547780513 C CT 14 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7159,CT/0.2841;DB;DBA=NA;PAF=C/0.7159,CT/0.2841;NP=1;NP=27;PC=0.004;Gene=FUCA1/NM_000147.4/1;CC=c.1161-103_1161-102insA;VC=Intron;DM=FUCA1/Fucosidase_C;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,T,CT:13:0:6:0:7,1,5:154,13,186:0.00,0.47,14.12:0.00,0.00,0.00:0.00,0.47,14.12:0.00,0.00,0.90:0.00,0.00,0.00:0.00,0.00,0.90:60,60,70:27.9,34.0,8.2:0,0,1:0,0,0:143,85,74:6,66,77:3,0,53:-,NM_000147.4(FUCA1) c.1161-103_1161-102insA:-,NOT_FOUND:-,NOT_FOUND 1 24175330 . C . . NT END=24180849;NT GT ./. 1 24175455 . A AT 14 idl,rn VT=INS;SST=Single;DP=24;NP=2;PC=0.010;Gene=FUCA1/NM_000147.4/1;CC=c.970-127_970-126insA;VC=Intron;DM=FUCA1/Alpha_L_fucos;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,AT,D:23:0:6:3:15,5,3:461,195,95:0.00,13.66,7.36:0.00,0.00,0.00:0.00,13.66,7.36:0.00,0.83,0.00:0.00,0.00,0.00:0.00,0.83,0.00:60,60,60:15.4,12.6,42.7:0,1,0:0,0,0:131,109,130:20,42,21:5,23,4:-,NM_000147.4(FUCA1) c.970-127_970-126insA:-,NOT_FOUND:-,NOT_FOUND 1 24180613 rs35993651 C G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5982,G/0.4018;Gene=FUCA1/NM_000147.4/1;CC=c.969+237G>C;VC=Intron;DM=FUCA1/Alpha_L_fucos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:198:22.66:22.66:0.00:1.00:1.00:0.00:60:70.7:0:0:17:133:13:NM_000147.4(FUCA1) c.969+237G>C,NM_000147.4(FUCA1) c.969+237G>C:0.41,0.41:NOT_FOUND,NOT_FOUND 1 24180623 rs35904775 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5982,C/0.4018;Gene=FUCA1/NM_000147.4/1;CC=c.969+227A>G;VC=Intron;DM=FUCA1/Alpha_L_fucos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:235:26.84:26.84:0.00:1.00:1.00:0.00:60:67.3:0:0:23:127:9:NM_000147.4(FUCA1) c.969+227A>G,NM_000147.4(FUCA1) c.969+227A>G:0.41,0.41:NOT_FOUND,NOT_FOUND 1 24180806 rs55699941 TA T 42 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=203;PC=0.798;Gene=FUCA1/NM_000147.4/1;CC=c.969+43delT;VC=Intron;DM=FUCA1/Alpha_L_fucos;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:42:42:2:19:25,2,15:783,65,589:0.00,4.25,41.97:0.00,4.32,34.24:0.00,-0.08,7.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:11.8,0.0,29.2:0,0,4:0,0,0:37,23,45:114,127,105:18,17,14:-,NM_000147.4(FUCA1) c.969+43delT:-,NOT_FOUND:-,NOT_FOUND 1 24180962 rs13551 T C 101 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=in-clinvar;PAF=T/0.7887,C/0.2113;Gene=FUCA1/NM_000147.4/1;CC=c.857A>G;ProtCh=p.Q286R;VC=Missense;DM=FUCA1/Alpha_L_fucos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:48:0:0:38,38:1062,1288:101.09,0.00:35.14,0.00:65.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,2.1:0,0:0,0:82,73:67,78:31,53:NM_000147.4(FUCA1) c.857A>G (p.Gln286Arg),-:0.25,-:0.268184,- 1 24181051 . C . . NT END=24186287;NT GT ./. 1 24181177 rs12748109 C T 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7923,T/0.2077;Gene=FUCA1/NM_000147.4/1;CC=c.769-127G>A;VC=Intron;DM=FUCA1/Alpha_L_fucos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:9,7:307,232:0.00,21.78:0.00,0.00:0.00,21.78:0.00,0.98:0.00,0.00:0.00,0.98:60,60:12.7,33.1:0,0:0,0:92,91:58,60:28,22:-,NM_000147.4(FUCA1) c.769-127G>A:-,0.25:-,NOT_FOUND 1 24186394 . C . . NT END=24189623;NT GT ./. 1 24189762 . C . . NT END=24191980;NT GT ./. 1 24192116 . C . . NT END=24194213;NT GT ./. 1 24192200 rs34902309 A G 161 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6454,G/0.3546;PC=0.009;Gene=FUCA1/NM_000147.4/1;CC=c.390-85T>C;VC=Intron;DM=FUCA1/Alpha_L_fucos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:9:0:0:44:1402:161.11:26.20:134.91:1.00:1.00:1.00:60:38.3:0:0:128:23:14:NM_000147.4(FUCA1) c.390-85T>C,NM_000147.4(FUCA1) c.390-85T>C:0.38,0.38:NOT_FOUND,NOT_FOUND 1 24192379 rs74937660 G C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.89,C/0.11;Gene=FUCA1/NM_000147.4/1;CC=c.390-264C>G;VC=Intron;DM=FUCA1/Alpha_L_fucos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,G:7:0:0:0:3,4:77,125:7.05,0.00:0.00,0.00:7.05,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:61.3,46.8:0,0:0,0:115,89:36,60:31,23:NM_000147.4(FUCA1) c.390-264C>G,-:0.1,-:NOT_FOUND,- 1 24194014 rs3003333 A T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5974,T/0.4026;Gene=FUCA1/NM_000147.4/1;CC=c.389+374T>A;VC=Intron;DM=FUCA1/Alpha_L_fucos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:172:19.58:19.58:0.00:1.00:1.00:0.00:60:62.0:0:0:17:132:16:NM_000147.4(FUCA1) c.389+374T>A,NM_000147.4(FUCA1) c.389+374T>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 24194748 rs2070956 G C 177 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=G/0.857,A/.,C/0.143;Gene=FUCA1/NM_000147.4/1;CC=c.29C>G;ProtCh=p.P10R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:144:73:0:0:63,80,1:1898,2342,10:177.29,0.00,-0.17:44.71,0.00,-0.10:132.57,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:83.8,12.7,199.0:0,0,0:0,0,0:101,70,85:48,66,66:29,39,0:NM_000147.4(FUCA1) c.29C>G (p.Pro10Arg),-:0.12,-:NOT_FOUND,- 1 24194773 rs2070955 G A 158 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=G/0.857,A/0.143;Gene=FUCA1/NM_000147.4/1;CC=c.4C>T;ProtCh=p.R2W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:127:54:0:0:55,3,69:1690,29,2246:158.17,-0.13,0.00:26.80,-0.10,0.00:131.37,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:102.1,65.7,13.2:0,0,0:0,0,0:107,98,85:43,53,54:27,20,37:NM_000147.4(FUCA1) c.4C>T (p.Arg2Trp),-:0.12,-:0.082365,- 1 24194777 . C . . NT END=24201024;NT GT ./. 1 24194788 rs2070954 A G 123 nt VT=SNV;PN=C;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=A/0.8572,G/0.1428;Gene=FUCA1/NM_000147.4/1;CC=c.-12T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:110:44:0:0:65,45:2002,1342:0.00,123.28:0.00,16.77:0.00,106.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,109.5:0,0:0,0:94,106:51,42:32,25:-,NM_000147.4(FUCA1) c.-12T>C:-,0.12:-,0.078094 1 24194862 rs2070953 A C 35 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.8572,C/0.1428 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:44:9:0:0:29,15:936,400:0.00,34.81:0.00,-1.27:0.00,36.08:0.00,1.00:0.00,0.96:0.00,1.00:60,60:16.0,115.1:0,0:0,0:120,117:31,34:16,24:-,NM_000147.4(FUCA1) c.-83-u3T>G:-,0.12:-,NOT_FOUND 1 24194898 rs2070952 C A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8572,A/0.1428 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,C:20:1:0:0:6,14:182,364:15.79,0.00:-0.08,0.00:15.87,0.00:0.94,0.00:0.53,0.00:0.94,0.00:60,60:111.7,22.4:0,0:0,0:113,91:33,60:24,30:NM_000147.4(FUCA1) c.-83-u39G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 24201162 rs2229579 G A 218 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.8926,A/0.1074,T/.;Gene=CNR2/NM_001841.2/1;CC=c.946C>T;ProtCh=p.H316Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:133:90:0:0:72,61:2234,2039:217.86,0.00:114.37,0.00:103.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,7.9:0,0:0,0:66,69:83,79:35,28:NM_001841.2(CNR2) c.946C>T (p.His316Tyr),-:0.1,-:0.07412,- 1 24202108 . G . . NT END=24287947;NT GT ./. 1 24227750 rs7514411 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01577,A/0.9842;PC=0.083;Gene=CNR2/NM_001841.2/1;CC=c.-46+11986C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:56.8:0:0:81:69:21:NM_001841.2(CNR2) c.-46+11986C>T,NM_001841.2(CNR2) c.-46+11986C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24228108 rs4649133 G A 255 nt VT=SNV;PN=C;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.01877,A/0.9812;PC=0.998;Gene=CNR2/NM_001841.2/1;CC=c.-46+11628C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:68:25:0:0:68:2224:254.77:66.56:188.21:1.00:1.00:1.00:60:63.4:0:0:112:38:25:NM_001841.2(CNR2) c.-46+11628C>T,NM_001841.2(CNR2) c.-46+11628C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24228132 rs4649134 G A 211 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.01857,A/0.9814;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+11604C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:A:58:18:0:0:58:1838:211.35:51.14:160.21:1.00:1.00:1.00:60:76.0:0:0:107:43:33:NM_001841.2(CNR2) c.-46+11604C>T,NM_001841.2(CNR2) c.-46+11604C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24228206 rs4649135 A G 140 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.01577,G/0.9842;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+11530T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:19:0:0:37:1228:140.44:70.97:69.47:1.00:1.00:1.00:60:72.1:0:0:88:63:46:NM_001841.2(CNR2) c.-46+11530T>C,NM_001841.2(CNR2) c.-46+11530T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24228359 rs4649136 A G 248 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.01617,G/0.9838;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+11377T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:50:0:0:70:2148:248.01:136.31:111.70:1.00:1.00:1.00:60:93.4:0:0:71:77:37:NM_001841.2(CNR2) c.-46+11377T>C,NM_001841.2(CNR2) c.-46+11377T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24228408 rs4648921 C T 275 nt VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.01577,T/0.9842;PC=0.979;Gene=CNR2/NM_001841.2/1;CC=c.-46+11328G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:55:0:0:74:2395:274.77:154.98:119.79:1.00:1.00:1.00:60:108.5:0:0:73:76:43:NM_001841.2(CNR2) c.-46+11328G>A,NM_001841.2(CNR2) c.-46+11328G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24228419 rs4648922 T C 284 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.01577,C/0.9842;PC=0.560;Gene=CNR2/NM_001841.2/1;CC=c.-46+11317A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:59:0:0:75:2484:284.14:174.12:110.02:1.00:1.00:1.00:60:108.5:0:0:69:81:41:NM_001841.2(CNR2) c.-46+11317A>G,NM_001841.2(CNR2) c.-46+11317A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24228443 rs4648923 G A 276 nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.01577,A/0.9842;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+11293C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:73:56:0:0:73:2410:275.75:154.50:121.25:1.00:1.00:1.00:60:97.2:0:0:64:85:32:NM_001841.2(CNR2) c.-46+11293C>T,NM_001841.2(CNR2) c.-46+11293C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24228594 rs6669546 C G 182 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.01857,G/0.9814;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+11142G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:G:50:22:0:0:50:1587:182.46:61.82:120.64:1.00:1.00:1.00:60:65.2:0:0:82:68:35:NM_001841.2(CNR2) c.-46+11142G>C,NM_001841.2(CNR2) c.-46+11142G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24228618 rs6669556 C T 176 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.2915,T/0.7085;PC=0.995;Gene=CNR2/NM_001841.2/1;CC=c.-46+11118G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:T:46:21:0:0:46:1539:175.84:65.45:110.39:1.00:1.00:1.00:60:75.7:0:0:81:69:24:NM_001841.2(CNR2) c.-46+11118G>A,NM_001841.2(CNR2) c.-46+11118G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 24228710 rs56319936 TCCCGAGTGACAA T 77 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=TCCCGAGTGACAA/0.01857,T/0.9814;NP=2074;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+11014_-46+11025delTTGTCACTCGGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:TCCCGAGTGACAA,T:28:15:0:24:4,24:125,710:0.00,77.42:0.00,40.30:0.00,37.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:75.2,54.6:0,0:0,0:147,79:1,55:2,32:-,NM_001841.2(CNR2) c.-46+11014_-46+11025delTTGTCACTCGGG:-,0.98:-,NOT_FOUND 1 24228762 rs6662481 G C 133 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.01857,C/0.9814;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+10974C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C:36:25:0:0:36:1163:133.46:87.62:45.85:1.00:1.00:1.00:60:57.5:0:0:55:92:28:NM_001841.2(CNR2) c.-46+10974C>G,NM_001841.2(CNR2) c.-46+10974C>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24228863 rs6662584 G A 207 nt VT=SNV;PN=G;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.01857,A/0.9814;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+10873C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:A:56:41:0:0:56:1806:207.25:125.08:82.17:1.00:1.00:1.00:60:45.5:0:0:77:66:31:NM_001841.2(CNR2) c.-46+10873C>T,NM_001841.2(CNR2) c.-46+10873C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24229032 rs6672272 C A 461 nt VT=SNV;PN=A;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.01817,A/0.9818;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+10704G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:124:102:0:0:123,1:4045,10:461.27,0.00:281.25,0.00:180.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.9,81.0:0,0:0,0:54,71:90,80:29,0:NM_001841.2(CNR2) c.-46+10704G>T,NM_001841.2(CNR2) c.-46+10704G>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 24229106 rs6677264 A G 541 nt VT=SNV;PN=G;NN=C;SST=Single;DP=145;DB;DBA=NA;PAF=A/0.01857,G/0.9814;PC=1.000;Gene=CNR2/NM_001841.2/1;CC=c.-46+10630T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:145:102:0:0:145:4726:541.32:263.54:277.78:1.00:1.00:1.00:60:54.8:0:0:69:77:36:NM_001841.2(CNR2) c.-46+10630T>C,NM_001841.2(CNR2) c.-46+10630T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24229276 rs6680554 T C 252 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.09744,C/0.9026;PC=0.029;Gene=CNR2/NM_001841.2/1;CC=c.-46+10460A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:33:0:0:76:2163:251.84:90.22:161.62:1.00:1.00:1.00:60:39.3:0:0:80:70:37:NM_001841.2(CNR2) c.-46+10460A>G,NM_001841.2(CNR2) c.-46+10460A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 24229569 rs57812017 G GGGC 33 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.02376,GGGC/0.9762;DB;DBA=NA;PAF=G/0.02376,GGGC/0.9762;NP=512;PC=0.841;Gene=CNR2/NM_001841.2/1;CC=c.-46+10166_-46+10167insGCC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGGC:27:14:13:0:14,13:405,354:0.00,33.29:0.00,12.65:0.00,20.64:0.00,1.00:0.00,1.00:0.00,1.00:60,70:19.6,3.2:0,0:0,0:138,111:11,40:5,9:-,NM_001841.2(CNR2) c.-46+10166_-46+10167insGCC:-,0.93:-,NOT_FOUND 1 24287812 rs199777849 GTTA G 20 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=283;Gene=PNRC2/NM_017761.3/1;CC=c.-18-115_-18-113delATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:6:6:169:19.72:19.72:0.00:1.00:1.00:0.00:63:23.8:0:0:53:97:12:NM_017761.3(PNRC2) c.-18-117_-18-115delTTA,NM_017761.3(PNRC2) c.-18-117_-18-115delTTA:0.74,0.74:NOT_FOUND,NOT_FOUND 1 24288368 . A . . NT END=24294152;NT GT ./. 1 24288476 rs72540327 T C 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=PNRC2/NM_017761.3/1;CC=c.*109T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:300:34.29:0.00:34.29:1.00:0.00:1.00:51:40.7:0:0:127:23:19:NM_017761.3(PNRC2) c.*109T>C,NM_017761.3(PNRC2) c.*109T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 24294249 rs4276860 C T 29 lc VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.01617,T/0.9838;NP=434;PC=1.000;Gene=SRSF10/NM_001191005.2/0;CC=c.*3383G>A;VC=3UTR;Gene=SRSF10/NM_001191006.2/0;CC=c.*167G>A;VC=3UTR;Gene=SRSF10/NM_001191007.2/0;CC=c.489-36G>A;VC=Intron;Gene=SRSF10/NM_001191009.2/0;CC=c.438-36G>A;VC=Intron;Gene=SRSF10/NM_001300936.1/0;CC=c.*167G>A;VC=3UTR;Gene=SRSF10/NM_001300937.1/1;CC=c.594-36G>A;VC=Intron;Gene=SRSF10/NM_006625.5/0;CC=c.492-36G>A;VC=Intron;Gene=SRSF10/NM_054016.3/0;CC=c.*3383G>A;VC=3UTR;Gene=SRSF10/NR_034035.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:254:29.21:29.21:0.00:1.00:1.00:0.00:41:36.6:0:0:14:136:6:NM_001191006.1(SRSF10) c.*167G>A,NM_001191006.1(SRSF10) c.*167G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 24294447 . C . . NT END=24295572;NT GT ./. 1 24294450 rs533794447 C CA 16 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6372,A/0.3628;NP=38;PC=0.107;Gene=SRSF10/NM_001191005.2/0;CC=c.*3181dupT;VC=3UTR;Gene=SRSF10/NM_001191006.2/0;CC=c.492-5dupT;VC=Intron;Gene=SRSF10/NM_001191007.2/0;CC=c.489-238dupT;VC=Intron;Gene=SRSF10/NM_001191009.2/0;CC=c.438-238dupT;VC=Intron;Gene=SRSF10/NM_001300936.1/0;CC=c.489-5dupT;VC=Intron;Gene=SRSF10/NM_001300937.1/1;CC=c.594-238dupT;VC=Intron;Gene=SRSF10/NM_006625.5/0;CC=c.492-238dupT;VC=Intron;Gene=SRSF10/NM_054016.3/0;CC=c.*3181dupT;VC=3UTR;Gene=SRSF10/NR_034035.2/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,CA,D:18:11:8:1:10,7,1:281,182,21:0.00,15.59,1.08:0.00,12.46,1.25:0.00,3.13,-0.16:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.99,0.00:54,45,21:13.3,10.0,30.0:0,1,0:0,0,0:125,91,10:24,44,141:16,18,0:-,NM_001191006.1(SRSF10) c.492-5_492-4insT:-,NOT_FOUND:-,NOT_FOUND 1 24294587 rs35233638 G A 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4249,A/0.5751;Gene=SRSF10/NM_001191005.2/0;CC=c.*3045C>T;VC=3UTR;Gene=SRSF10/NM_001191006.2/0;CC=c.492-141C>T;VC=Intron;Gene=SRSF10/NM_001191007.2/0;CC=c.489-374C>T;VC=Intron;Gene=SRSF10/NM_001191009.2/0;CC=c.438-374C>T;VC=Intron;Gene=SRSF10/NM_001300936.1/0;CC=c.489-141C>T;VC=Intron;Gene=SRSF10/NM_001300937.1/1;CC=c.594-374C>T;VC=Intron;Gene=SRSF10/NM_006625.5/0;CC=c.492-374C>T;VC=Intron;Gene=SRSF10/NM_054016.3/0;CC=c.*3045C>T;VC=3UTR;Gene=SRSF10/NR_034035.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G:12:4:0:0:11,1:368,32:40.55,0.00:9.80,0.00:30.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,40:37.2,0.0:0,0:0,0:95,122:56,29:21,0:NM_001191006.1(SRSF10) c.492-141C>T,-:0.8,-:NOT_FOUND,- 1 24296875 . g . . NT END=24297127;NT GT ./. 1 24297057 . G A 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;PC=0.069;Gene=SRSF10/NM_001191005.2/0;CC=c.*575C>T;VC=3UTR;Gene=SRSF10/NM_001191006.2/0;CC=c.491+1006C>T;VC=Intron;Gene=SRSF10/NM_001191007.2/0;CC=c.488+1006C>T;VC=Intron;Gene=SRSF10/NM_001191009.2/0;CC=c.437+1283C>T;VC=Intron;Gene=SRSF10/NM_001300936.1/0;CC=c.488+1006C>T;VC=Intron;Gene=SRSF10/NM_001300937.1/1;CC=c.593+771C>T;VC=Intron;Gene=SRSF10/NM_006625.5/0;CC=c.491+1006C>T;VC=Intron;Gene=SRSF10/NM_054016.3/0;CC=c.*575C>T;VC=3UTR;Gene=SRSF10/NR_034035.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:5:0:0:2,3:69,104:6.39,0.00:6.73,0.00:-0.33,0.00:0.46,0.00:0.46,0.00:0.80,0.00:43,42:70.0,4.0:0,0:0,0:75,16:59,135:13,0:NM_054016.2(SRSF10) c.*575C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 24297930 . C . . NT END=24298062;NT GT ./. 1 24298117 . C . . NT END=24298339;NT GT ./. 1 24298503 . C . . NT END=24301463;NT GT ./. 1 24301568 . G . . NT END=24304400;NT GT ./. 1 24304764 . C . . NT END=24305142;NT GT ./. 1 24305308 . C . . NT END=24306680;NT GT ./. 1 24306746 . G . . NT END=24383853;NT GT ./. 1 24383819 rs7540491 T C 309 nt VT=SNV;PN=G;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.3075,C/0.6925;PC=0.003;Gene=MYOM3/NM_152372.3/1;CC=c.*35A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:82:71:0:0:82:2698:308.77:214.09:94.68:1.00:1.00:1.00:60:48.9:0:0:38:111:22:NM_152372.3(MYOM3) c.*35A>G,NM_152372.3(MYOM3) c.*35A>G:0.72,0.72:0.677563,0.677563 1 24384118 . C . . NT END=24385413;NT GT ./. 1 24385470 . C . . NT END=24387549;NT GT ./. 1 24387573 . C . . NT END=24387762;NT GT ./. 1 24387800 . C . . NT END=24388435;NT GT ./. 1 24388371 rs4649168 T C 161 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.05212,C/0.9479;Gene=MYOM3/NM_152372.3/1;CC=c.3934+65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:39:0:0:43:1408:161.24:133.79:27.45:1.00:1.00:1.00:60:38.2:0:0:48:103:31:NM_152372.3(MYOM3) c.3934+65A>G,NM_152372.3(MYOM3) c.3934+65A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 24388600 . C . . NT END=24389615;NT GT ./. 1 24389509 rs67138023 GAA G 27 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GAA/0.3548,G/0.6452;NP=1903;PC=0.015;Gene=MYOM3/NM_152372.3/1;CC=c.3770+105_3770+106delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:GAA,G:12:12:0:8:4,8:126,260:0.00,26.50:0.00,26.50:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:18.0,6.6:0,0:0,0:48,46:102,103:14,23:-,NM_152372.3(MYOM3) c.3770+105_3770+106delTT:-,0.66:-,NOT_FOUND 1 24389725 . C . . NT END=24389981;NT GT ./. 1 24390021 . C . . NT END=24390561;NT GT ./. 1 24390650 . C . . NT END=24392380;NT GT ./. 1 24390731 rs7555384 C T 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7282,T/0.2718;Gene=MYOM3/NM_152372.3/1;CC=c.3535-82G>A;VC=Intron;DM=MYOM3/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:6:0:0:16,8:545,257:0.00,22.88:0.00,4.80:0.00,18.08:0.00,0.99:0.00,0.42:0.00,1.00:60,60:27.2,34.4:0,0:0,0:98,114:48,36:33,27:-,NM_152372.3(MYOM3) c.3535-82G>A:-,0.34:-,NOT_FOUND 1 24392492 . C . . NT END=24393510;NT GT ./. 1 24393282 rs10903077 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7294,A/0.2706;PC=0.001;Gene=MYOM3/NM_152372.3/1;CC=c.3423+229C>T;VC=Intron;DM=MYOM3/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:8:8:0:0:4,4:129,123:12.40,0.00:12.40,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:32.2,35.2:0,0:0,0:24,59:126,92:8,18:NM_152372.3(MYOM3) c.3423+229C>T,-:0.34,-:NOT_FOUND,- 1 24393579 . C . . NT END=24394459;NT GT ./. 1 24393656 rs12026723 G A 102 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.7464,A/0.2536;PC=0.001;Gene=MYOM3/NM_152372.3/1;CC=c.3356-78C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:21:0:0:30,20:1022,599:101.93,0.00:19.11,0.00:82.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.1,5.0:0,0:0,0:98,109:51,35:33,18:NM_152372.3(MYOM3) c.3356-78C>T,-:0.32,-:NOT_FOUND,- 1 24393729 rs11249090 G A 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4451,A/0.5549;Gene=MYOM3/NM_152372.3/1;CC=c.3356-151C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:25:0:0:0:13,1,11:418,5,344:40.80,-0.11,0.00:0.00,0.00,0.00:40.80,-0.11,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.4,117.0,1.6:0,0,0:0,0,0:120,40,120:30,111,30:20,0,14:NM_152372.3(MYOM3) c.3356-151C>T,-:0.56,-:NOT_FOUND,- 1 24393773 . C CCTTT 11 nt VT=INS;SST=Single;DP=13;NP=4;NP=7;PC=0.014;Gene=MYOM3/NM_152372.3/1;CC=c.3356-196_3356-195insAAAG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,T,CCTTT:13:0:4:0:8,1,4:201,9,128:0.00,0.13,11.39:0.00,0.00,0.00:0.00,0.13,11.39:0.00,0.00,0.79:0.00,0.00,0.00:0.00,0.00,0.79:60,60,60:42.8,117.0,68.0:1,0,0:0,0,0:87,88,73:64,63,76:46,0,17:-,NM_152372.3(MYOM3) c.3356-196_3356-195insAAAG:-,NOT_FOUND:-,NOT_FOUND 1 24393835 rs12046232 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.077;Gene=MYOM3/NM_152372.3/1;CC=c.3356-257A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:C,T:10:0:0:0:5,5:152,162:14.57,0.00:0.00,0.00:14.57,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:81.8,30.2:0,0:0,0:138,67:11,83:12,28:NM_152372.3(MYOM3) c.3356-257A>G,-:0.15,-:NOT_FOUND,- 1 24394520 . C . . NT END=24394712;NT GT ./. 1 24394858 . C . . NT END=24397606;NT GT ./. 1 24395003 rs6660675 T G 34 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.4487,G/0.5513;Gene=MYOM3/NM_152372.3/1;CC=c.3151-146A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:24:3:0:0:1,13,10:7,348,313:-0.02,34.08,0.00:-0.02,1.42,0.00:-0.00,32.66,0.00:0.00,1.00,0.00:0.00,0.91,0.00:0.00,1.00,0.00:60,60,60:127.0,33.5,37.4:0,0,1:0,0,0:93,129,96:48,22,46:0,21,18:NM_152372.3(MYOM3) c.3151-146A>C,-:0.55,-:NOT_FOUND,- 1 24397473 rs34631595 G GC 18 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9093,GC/0.09065;NP=843;Gene=MYOM3/NM_152372.3/1;CC=c.3150+133_3150+134insG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,GC:14:14:6:0:8,6:253,190:0.00,17.72:0.00,16.02:0.00,1.70:0.00,0.96:0.00,0.96:0.00,0.62:60,60:3.8,26.3:0,0:0,0:20,13:130,137:16,4:-,NM_152372.3(MYOM3) c.3150+133_3150+134insG:-,0.11:-,NOT_FOUND 1 24397744 . C . . NT END=24398458;NT GT ./. 1 24398504 . C . . NT END=24400649;NT GT ./. 1 24400430 rs6675170 A T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.05371,T/0.9463;Gene=MYOM3/NM_152372.3/1;CC=c.2968+220T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:82:10.09:10.09:0.00:1.00:1.00:0.00:60:82.8:0:0:60:89:9:NM_152372.3(MYOM3) c.2968+220T>A,NM_152372.3(MYOM3) c.2968+220T>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 24400584 rs6660949 G C 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.03275,C/0.9673;Gene=MYOM3/NM_152372.3/1;CC=c.2968+66C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C,G:31:28:0:0:30,1:927,8:105.46,0.00:94.65,0.00:10.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.1,147.0:0,0:0,0:53,0:96,149:47,0:NM_152372.3(MYOM3) c.2968+66C>G,NM_152372.3(MYOM3) c.2968+66C>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24400633 rs10903083 C G 207 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.03275,A/.,G/0.9673,T/.;Gene=MYOM3/NM_152372.3/1;CC=c.2968+17G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G:56:49:0:0:56:1803:206.99:147.24:59.75:1.00:1.00:1.00:60:51.3:0:0:34:113:22:NM_152372.3(MYOM3) c.2968+17G>C,NM_152372.3(MYOM3) c.2968+17G>C:0.98,0.98:0.979502,0.979502 1 24400760 . C . . NT END=24401808;NT GT ./. 1 24401566 rs66516438 AAAAAG A 9 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=155;PC=0.008;Gene=MYOM3/NM_152372.3/1;CC=c.2858+238_2858+242delCTTTT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:AAAAAG,A:8:9:0:4:5,3:138,128:0.00,8.52:0.00,8.52:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:3.4,8.7:0,1:0,0:17,85:133,65:12,10:-,NM_152372.3(MYOM3) c.2858+238_2858+242delCTTTT:-,NOT_FOUND:-,NOT_FOUND 1 24401966 . C . . NT END=24402648;NT GT ./. 1 24402764 . C . . NT END=24406505;NT GT ./. 1 24406535 rs35446243 G A 181 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.9111,A/0.08886;PC=0.164;Gene=MYOM3/NM_152372.3/1;CC=c.2557C>T;ProtCh=p.P853S;VC=Missense;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:113:92:0:0:57,2,54:1873,15,1695:181.08,-0.22,0.00:106.67,-0.08,0.00:74.41,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,92.5,18.9:0,0,0:0,0,0:46,46,63:102,104,78:32,13,28:NM_152372.3(MYOM3) c.2557C>T (p.Pro853Ser),-:0.11,-:0.148445,- 1 24406647 rs4649175 G A 123 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.6458,A/0.3542;PC=0.978;Gene=MYOM3/NM_152372.3/1;CC=c.2445C>T;ProtCh=p.A815=;VC=Silent;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:104:58:0:0:42,62:1333,2034:122.85,0.00:29.91,0.00:92.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,21.0:0,0:0,0:101,98:45,40:30,38:NM_152372.3(MYOM3) c.2445C>T (p.(=)),-:0.39,-:0.38806,- 1 24406685 . C . . NT END=24407819;NT GT ./. 1 24406885 rs4649176 C G 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.004193,G/0.9958;NP=623;Gene=MYOM3/NM_152372.3/1;CC=c.2408-201G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:228:26.14:0.00:26.14:1.00:0.00:1.00:60:61.9:0:0:86:65:40:NM_152372.3(MYOM3) c.2408-201G>C,NM_152372.3(MYOM3) c.2408-201G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24407947 . C . . NT END=24408490;NT GT ./. 1 24408015 rs10903090 C G 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.011;Gene=MYOM3/NM_152372.3/1;CC=c.2281-69G>C;VC=Intron;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:55:15:0:0:29,26:836,808:0.00,76.78:0.00,14.48:0.00,62.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,46.0:0,0:0,0:120,88:30,62:20,40:-,NM_152372.3(MYOM3) c.2281-69G>C:-,0.4:-,NOT_FOUND 1 24408237 rs4266831 A G 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6334,G/0.3666;PC=0.001;Gene=MYOM3/NM_152372.3/1;CC=c.2280+254T>C;VC=Intron;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,G,T:8:4:0:0:4,3,1:131,90,10:0.00,8.34,0.40:0.00,5.19,-0.12:0.00,3.14,0.51:0.00,0.67,0.00:0.00,0.85,0.00:0.00,0.85,0.00:60,60,60:8.5,93.0,153.0:0,0,0:0,0,0:71,57,49:79,94,76:49,2,0:-,NM_152372.3(MYOM3) c.2280+254T>C:-,0.4:-,NOT_FOUND 1 24408414 rs4313343 C T 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.6336,T/0.3664;PC=0.001;Gene=MYOM3/NM_152372.3/1;CC=c.2280+77G>A;VC=Intron;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:26:0:0:14,15:478,472:0.00,45.61:0.00,43.28:0.00,2.33:0.00,1.00:0.00,1.00:0.00,0.99:60,60:18.6,37.1:0,0:0,0:28,49:121,102:9,35:-,NM_152372.3(MYOM3) c.2280+77G>A:-,0.4:-,NOT_FOUND 1 24408679 . C . . NT END=24409082;NT GT ./. 1 24408765 rs4333801 T C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.6336,C/0.3664;Gene=MYOM3/NM_152372.3/1;CC=c.2093-87A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:17:0:0:18,21:532,601:50.10,0.00:13.18,0.00:36.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.2,16.5:0,0:0,0:112,101:37,50:18,27:NM_152372.3(MYOM3) c.2093-87A>G,-:0.41,-:NOT_FOUND,- 1 24409191 rs4320729 C T 178 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.7432,T/0.2568;PC=1.000;Gene=MYOM3/NM_152372.3/1;CC=c.1984G>A;ProtCh=p.G662R;VC=Missense;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:120:68:0:0:1,61,1,57:11,1818,5,1865:-0.11,0.00,-0.19,178.19:0.03,0.00,-0.06,64.51:-0.13,0.00,-0.13,113.68:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:98.0,8.7,34.0,45.8:0,0,0,0:0,0,0,0:85,95,52,86:66,52,97,60:0,34,0,33:-,NM_152372.3(MYOM3) c.1984G>A (p.Gly662Arg):-,0.32:-,0.310037 1 24409205 . C . . NT END=24410957;NT GT ./. 1 24410751 rs10903093 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.634,C/0.366;PC=0.231;Gene=MYOM3/NM_152372.3/1;CC=c.1970+207A>G;VC=Intron;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,T:5:5:0:0:3,2:95,71:9.47,0.00:9.47,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:34.0,3.5:0,0:0,0:7,53:143,97:5,19:NM_152372.3(MYOM3) c.1970+207A>G,-:0.4,-:NOT_FOUND,- 1 24411130 . C . . NT END=24413133;NT GT ./. 1 24412885 rs4649180 A T 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.03155,T/0.9685;Gene=MYOM3/NM_152372.3/1;CC=c.1798+249T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:271:30.92:30.92:0.00:1.00:1.00:0.00:60:55.5:0:0:28:122:11:NM_152372.3(MYOM3) c.1798+249T>A,NM_152372.3(MYOM3) c.1798+249T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 24413159 rs6424152 T C 180 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=136;DB;DBA=NA;PAF=T/0.6252,C/0.3748;PC=0.736;Gene=MYOM3/NM_152372.3/1;CC=c.1773A>G;ProtCh=p.E591=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:136:107:0:0:1,57,1,77:11,1922,12,2299:-0.14,179.74,-0.12,0.00:-0.14,102.47,-0.03,0.00:0.00,77.27,-0.09,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:38.0,40.5,12.0,10.4:0,0,0,0:0,0,0,0:13,56,139,59:138,85,12,81:0,22,0,31:NM_152372.3(MYOM3) c.1773A>G (p.(=)),-:0.41,-:0.402905,- 1 24413318 . C . . NT END=24416027;NT GT ./. 1 24413427 rs6686608 T G 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6462,G/0.3538;Gene=MYOM3/NM_152372.3/1;CC=c.1615-110A>C;VC=Intron;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:3:0:0:15,13:483,372:47.04,0.00:4.77,0.00:42.27,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:52.5,14.4:0,0:0,0:87,107:64,44:35,27:NM_152372.3(MYOM3) c.1615-110A>C,-:0.39,-:NOT_FOUND,- 1 24413531 rs6678938 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6336,T/0.3664;Gene=MYOM3/NM_152372.3/1;CC=c.1615-214G>A;VC=Intron;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:9:0:0:0:6,3:184,103:0.00,9.24:0.00,0.00:0.00,9.24:0.00,0.64:0.00,0.00:0.00,0.64:60,60:3.5,59.7:0,0:0,0:91,105:59,44:34,5:-,NM_152372.3(MYOM3) c.1615-214G>A:-,0.4:-,NOT_FOUND 1 24416059 rs4393101 T C 357 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.02117,A/.,C/0.9788;PC=1.000;Gene=MYOM3/NM_152372.3/1;CC=c.1583A>G;ProtCh=p.D528G;VC=Missense;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:75:0:0:96:3110:356.58:211.45:145.14:1.00:1.00:1.00:60:53.6:0:0:66:75:34:NM_152372.3(MYOM3) c.1583A>G (p.Asp528Gly),NM_152372.3(MYOM3) c.1583A>G (p.Asp528Gly):0.98,0.98:0.979036,0.979036 1 24416070 rs7533060 G C 144 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.4994,C/0.5006,T/.;Gene=MYOM3/NM_152372.3/1;CC=c.1572C>G;ProtCh=p.P524=;VC=Silent;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:95:75:0:0:48,47:1500,1556:144.15,0.00:83.99,0.00:60.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.1,35.3:0,0:0,0:68,73:79,66:36,29:NM_152372.3(MYOM3) c.1572C>G (p.(=)),-:0.54,-:0.472597,- 1 24416156 . C . . NT END=24416554;NT GT ./. 1 24416609 . C . . NT END=24417286;NT GT ./. 1 24416807 rs12042188 C T 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4429,T/0.5571;Gene=MYOM3/NM_152372.3/1;CC=c.1433-199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,G,T:10:1:0:0:4,1,5:107,11,170:0.00,0.46,16.68:0.00,-0.02,-0.15:0.00,0.48,16.83:0.00,0.00,0.95:0.00,0.00,0.67:0.00,0.00,0.95:60,60,60:11.8,62.0,34.0:0,0,0:0,0,0:115,136,96:9,15,53:26,0,36:-,NM_152372.3(MYOM3) c.1433-199G>A:-,0.52:-,NOT_FOUND 1 24417487 . C . . NT END=24418663;NT GT ./. 1 24418768 rs7556176 T C 157 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.6238,C/0.3762;Gene=MYOM3/NM_152372.3/1;CC=c.1128A>G;ProtCh=p.P376=;VC=Silent;DM=MYOM3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:94:61:0:0:49,1,44:1612,12,1446:156.53,-0.04,0.00:72.96,-0.09,0.00:83.57,0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.6,12.0,7.9:0,0,0:0,0,0:74,36,58:71,115,88:36,0,34:NM_152372.3(MYOM3) c.1128A>G (p.(=)),-:0.42,-:0.446172,- 1 24418806 . C . . NT END=24419436;NT GT ./. 1 24419302 rs4075565 A G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.6126,G/0.3874;Gene=MYOM3/NM_152372.3/1;CC=c.1090+135T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:26:0:0:13,13:412,342:0.00,32.43:0.00,30.60:0.00,1.84:0.00,1.00:0.00,1.00:0.00,0.67:60,60:7.0,32.6:0,0:0,0:49,24:102,127:44,23:-,NM_152372.3(MYOM3) c.1090+135T>C:-,0.44:-,NOT_FOUND 1 24419496 rs4233050 A G 153 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.621,G/0.379;PC=0.134;Gene=MYOM3/NM_152372.3/1;CC=c.1031T>C;ProtCh=p.M344T;VC=Missense;DM=MYOM3/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:102:70:0:0:52,50:1719,1598:0.00,152.91:0.00,73.46:0.00,79.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,40.2:0,0:0,0:94,62:46,83:23,41:-,NM_152372.3(MYOM3) c.1031T>C (p.Met344Thr):-,0.43:-,0.46369 1 24419599 . C . . NT END=24421342;NT GT ./. 1 24421334 rs6678411 G T 115 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.7702,T/0.2298;PC=0.996;Gene=MYOM3/NM_152372.3/1;CC=c.928+9C>A;VC=Intron;DM=MYOM3/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:67:55:0:0:30,37:885,1174:0.00,115.08:0.00,65.76:0.00,49.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,38.2:0,0:0,0:83,67:66,76:39,27:-,NM_152372.3(MYOM3) c.928+9C>A:-,0.29:-,0.307515 1 24421474 rs6678540 G A 142 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.6801,A/0.3199;PC=0.108;Gene=MYOM3/NM_152372.3/1;CC=c.797C>T;ProtCh=p.T266M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:57:0:0:46,46:1479,1531:142.10,0.00:61.09,0.00:81.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,3.8:0,0:0,0:95,81:51,61:32,35:NM_152372.3(MYOM3) c.797C>T (p.Thr266Met),-:0.38,-:0.396623,- 1 24421481 . C . . NT END=24421931;NT GT ./. 1 24421643 rs4520362 T C 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6128,C/0.3872;PC=0.001;Gene=MYOM3/NM_152372.3/1;CC=c.791-163A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:3:0:0:8,8:256,246:24.62,0.00:3.19,0.00:21.43,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:32.0,12.2:0,0:0,0:117,111:33,39:7,25:NM_152372.3(MYOM3) c.791-163A>G,-:0.43,-:NOT_FOUND,- 1 24421804 rs11249142 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.772,G/0.228;PC=0.001;Gene=MYOM3/NM_152372.3/1;CC=c.790+128T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:18:17:0:0:11,7:355,200:0.00,18.11:0.00,14.55:0.00,3.57:0.00,0.98:0.00,1.00:0.00,0.59:60,60:4.3,89.3:0,0:0,0:86,57:65,92:49,34:-,NM_152372.3(MYOM3) c.790+128T>C:-,0.28:-,NOT_FOUND 1 24421875 rs11249143 C T 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7342,T/0.2658;Gene=MYOM3/NM_152372.3/1;CC=c.790+57G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:30:0:0:18,15:592,469:0.00,44.17:0.00,34.85:0.00,9.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,70.5:0,0:0,0:47,41:103,100:15,21:-,NM_152372.3(MYOM3) c.790+57G>A:-,0.32:-,0.33399 1 24421950 rs4319261 C G 81 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.5895,G/0.4105;PC=1.000;Gene=MYOM3/NM_152372.3/1;CC=c.772G>C;ProtCh=p.D258H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:60:46:0:0:1,34,25:7,1060,864:-0.18,0.00,80.95:-0.05,0.00,48.17:-0.12,0.00,32.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:119.0,13.2,47.1:0,0,0:0,0,0:96,66,57:55,76,93:0,34,25:-,NM_152372.3(MYOM3) c.772G>C (p.Asp258His):-,0.46:-,0.482 1 24421977 . C . . NT END=24424412;NT GT ./. 1 24424241 rs3885698 T C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5893,C/0.4107;Gene=MYOM3/NM_152372.3/1;CC=c.745+172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,T:4:4:0:0:2,2:70,54:6.75,0.00:6.75,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:41.5,51.5:0,0:0,0:43,5:108,145:35,3:NM_152372.3(MYOM3) c.745+172A>G,-:0.44,-:NOT_FOUND,- 1 24424502 . C . . NT END=24426169;NT GT ./. 1 24426266 . C . . NT END=24432409;NT GT ./. 1 24432568 . C . . NT END=24433562;NT GT ./. 1 24432810 rs4593753 T C 45 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.01178,C/0.9882;Gene=MYOM3/NM_152372.3/1;CC=c.403-243A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:391:45.29:0.00:45.29:1.00:0.00:1.00:60:36.8:0:0:122:29:13:NM_152372.3(MYOM3) c.403-243A>G,NM_152372.3(MYOM3) c.403-243A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24433723 . C . . NT END=24434482;NT GT ./. 1 24434564 . C . . NT END=24434965;NT GT ./. 1 24434595 rs11249170 T C 68 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.2973,C/0.7027,G/.;Gene=MYOM3/NM_152372.3/1;CC=c.162-32A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:23:0:0:22,22:706,728:67.83,0.00:23.97,0.00:43.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,5.2:0,0:0,0:95,88:49,50:18,26:NM_152372.3(MYOM3) c.162-32A>G,-:0.64,-:0.667073,- 1 24434717 rs397971954 T TC 35 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.7258,TC/0.2742;DB;DBA=NA;PAF=T/0.7258,TC/0.2742;NP=231;PC=0.001;Gene=MYOM3/NM_152372.3/1;CC=c.162-155dupG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TC:18:4:11:0:7,11:202,350:0.00,35.04:0.00,10.28:0.00,24.76:0.00,1.00:0.00,0.98:0.00,1.00:60,60:18.7,1.0:1,0:0,0:58,87:74,64:39,22:-,NM_152372.3(MYOM3) c.162-155_162-154insG:-,0.34:-,NOT_FOUND 1 24435127 . G . . NT END=24447294;NT GT ./. 1 24447116 rs3795302 C T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5132,T/0.4868;Gene=IL22RA1/NM_021258.3/1;CC=c.*179G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:13:13:0:0:9,4:308,125:0.00,10.92:0.00,10.92:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,60:31.4,52.8:0,0:0,0:44,49:107,100:20,23:-,NM_021258.3(IL22RA1) c.*179G>A:-,0.47:-,NOT_FOUND 1 24447214 rs3795300 G A 123 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.2829,A/0.7171;Gene=IL22RA1/NM_021258.3/1;CC=c.*81C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A,T:35:34:0:0:34,1:1074,11:123.08,0.30:114.02,0.30:9.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,39.0:0,0:0,0:51,74:99,77:31,0:NM_021258.3(IL22RA1) c.*81C>T,NM_021258.3(IL22RA1) c.*81C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 24447468 rs3795299 G C 134 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.5337,A/.,C/0.4663;PC=0.973;Gene=IL22RA1/NM_021258.3/1;CC=c.1552C>G;ProtCh=p.R518G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:111:74:0:0:1,49,61:11,1434,1886:-0.12,133.88,0.00:-0.01,70.17,0.00:-0.11,63.71,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:181.0,37.4,9.9:0,0,0:0,0,0:86,85,56:64,59,89:0,38,39:NM_021258.3(IL22RA1) c.1552C>G (p.Arg518Gly),-:0.44,-:0.372597,- 1 24448228 . C . . NT END=24449791;NT GT ./. 1 24448371 rs4442319 T C 60 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.2684,C/0.7316;PC=0.001;Gene=IL22RA1/NM_021258.3/1;CC=c.793-144A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:0:0:0:17:516:59.66:0.00:59.66:1.00:0.00:1.00:60:37.6:0:0:98:53:20:NM_021258.3(IL22RA1) c.793-144A>G,NM_021258.3(IL22RA1) c.793-144A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 24449628 rs12093987 T C 55 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6909,C/0.3091;PC=0.006;Gene=IL22RA1/NM_021258.3/1;CC=c.792+164A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:17,9:543,294:55.13,0.00:55.13,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.0,17.8:0,0:0,0:43,64:108,86:29,28:NM_021258.3(IL22RA1) c.792+164A>G,-:0.27,-:NOT_FOUND,- 1 24450034 . C . . NT END=24454630;NT GT ./. 1 24454770 . C . . NT END=24460700;NT GT ./. 1 24454902 rs79895649 C T 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9619,T/0.03814;Gene=IL22RA1/NM_021258.3/1;CC=c.532-133G>A;VC=Intron;DM=IL22RA1/Interfer-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,C,T:24:1:0:0:1,17,6:10,520,198:0.00,0.00,16.93:-0.01,0.00,-0.06:0.01,0.00,16.99:0.00,0.00,0.92:0.00,0.00,0.50:0.00,0.00,0.92:60,60,60:32.0,4.6,38.8:0,0,0:0,0,0:116,85,112:35,63,38:0,39,26:-,NM_021258.3(IL22RA1) c.532-133G>A:-,0.04:-,NOT_FOUND 1 24460797 rs17852649 T G 151 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.4764,G/0.5236;Gene=IL22RA1/NM_021258.3/1;CC=c.435A>C;ProtCh=p.P145=;VC=Silent;DM=IL22RA1/Interfer-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:68:46:0:0:46,22:1482,684:151.49,0.00:71.37,0.00:80.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,3.1:0,0:0,0:58,50:88,99:30,26:NM_021258.3(IL22RA1) c.435A>C (p.(=)),-:0.54,-:0.633246,- 1 24460877 . C . . NT END=24461371;NT GT ./. 1 24461427 . c . . NT END=24463620;NT GT ./. 1 24463359 rs78086250 C A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9585,A/0.04153;Gene=IL22RA1/NM_021258.3/1;CC=c.355+262G>T;VC=Intron;DM=IL22RA1/Interfer-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,C:4:4:0:0:3,1:94,36:9.85,0.00:9.85,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:115.7,0.0:0,0:0,0:29,44:122,107:13,0:NM_021258.3(IL22RA1) c.355+262G>T,-:0.04,-:NOT_FOUND,- 1 24463404 rs4233051 G T 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6941,T/0.3059;Gene=IL22RA1/NM_021258.3/1;CC=c.355+217C>A;VC=Intron;DM=IL22RA1/Interfer-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:G,T:7:7:0:0:1,6:32,168:0.00,18.36:0.00,18.36:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,90.8:0,0:0,0:89,45:62,105:0,28:-,NM_021258.3(IL22RA1) c.355+217C>A:-,0.36:-,NOT_FOUND 1 24463417 rs7418238 A G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9477,G/0.05232;Gene=IL22RA1/NM_021258.3/1;CC=c.355+204T>C;VC=Intron;DM=IL22RA1/Interfer-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:8:8:0:0:2,6:66,196:0.00,20.51:0.00,20.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.5,90.8:0,0:0,0:55,58:95,92:46,28:-,NM_021258.3(IL22RA1) c.355+204T>C:-,0.05:-,NOT_FOUND 1 24463563 rs4486393 C T 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8119,T/0.1881;Gene=IL22RA1/NM_021258.3/1;CC=c.355+58G>A;VC=Intron;DM=IL22RA1/Interfer-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:34:0:0:24,13:749,455:0.00,41.29:0.00,29.52:0.00,11.77:0.00,1.00:0.00,1.00:0.00,0.97:60,60:7.3,40.2:0,0:0,0:47,48:101,95:34,20:-,NM_021258.3(IL22RA1) c.355+58G>A:-,0.17:-,NOT_FOUND 1 24463800 . C . . NT END=24465071;NT GT ./. 1 24465113 rs10903022 C T 130 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.5294,T/0.4706;Gene=IL22RA1/NM_021258.3/1;CC=c.135G>A;ProtCh=p.P45=;VC=Silent;DM=IL22RA1/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:56:0:0:42,40:1208,1352:0.00,129.71:0.00,68.95:0.00,60.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,41.8:0,0:0,0:88,67:55,82:34,30:-,NM_021258.3(IL22RA1) c.135G>A (p.(=)):-,0.45:-,0.344303 1 24465205 . C . . NT END=24469529;NT GT ./. 1 24465309 rs10794642 C T 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.5288,T/0.4712;Gene=IL22RA1/NM_021258.3/1;CC=c.44-105G>A;VC=Intron;DM=IL22RA1/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:18:0:0:33,19:1058,586:0.00,52.83:0.00,10.93:0.00,41.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,45.1:0,0:0,0:116,102:33,48:18,35:-,NM_021258.3(IL22RA1) c.44-105G>A:-,0.45:-,NOT_FOUND 1 24469573 . C . . NT END=24483619;NT GT ./. 1 24469675 rs552397154 C G 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9994,T/0.000599;PC=1.000;Gene=IL22RA1/NM_021258.3/1;CC=c.-103G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,G:21:7:0:0:15,6:320,88:0.00,6.30:0.00,-0.80:0.00,7.10:0.00,0.93:0.00,0.39:0.00,0.99:60,60:40.7,91.2:0,1:0,0:124,44:27,96:8,29:-,NM_021258.3(IL22RA1) c.-103G>C:-,NOT_FOUND:-,NOT_FOUND 1 24469683 . A G 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;PC=0.002;Gene=IL22RA1/NM_021258.3/1;CC=c.-111T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:18:4:0:0:12,6:319,85:0.00,6.36:0.00,-0.62:0.00,6.97:0.00,0.94:0.00,0.81:0.00,0.89:60,60:51.9,92.7:0,0:0,0:122,60:29,68:22,23:-,NM_021258.3(IL22RA1) c.-111T>C:-,NOT_FOUND:-,NOT_FOUND 1 24483455 rs7522997 G A 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.003994,A/0.996;NP=2468;Gene=IFNLR1/NM_170743.3/0;CC=c.*165C>T;VC=3UTR;Gene=IFNLR1/NM_173064.2/1;CC=c.*165C>T;VC=3UTR;Gene=IFNLR1/NM_173065.2/0;CC=c.*862C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:18:0:0:18:505:58.92:58.92:0.00:1.00:1.00:0.00:60:70.4:0:0:36:114:20:NM_170743.3(IL28RA) c.*165C>T,NM_170743.3(IL28RA) c.*165C>T:1,1:NOT_FOUND,NOT_FOUND 1 24483491 rs7536412 A G 112 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.003994,G/0.996;NP=3205;PC=0.001;Gene=IFNLR1/NM_170743.3/0;CC=c.*129T>C;VC=3UTR;Gene=IFNLR1/NM_173064.2/1;CC=c.*129T>C;VC=3UTR;Gene=IFNLR1/NM_173065.2/0;CC=c.*826T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:G,T:33:33:0:0:32,1:968,10:111.54,0.25:111.54,0.25:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:59.3,155.0:0,0:0,0:36,33:115,118:17,0:NM_170743.3(IL28RA) c.*129T>C,NM_170743.3(IL28RA) c.*129T>C:1,1:NOT_FOUND,NOT_FOUND 1 24484382 . C . . NT END=24485541;NT GT ./. 1 24484441 rs946671 A G 179 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.003994,G/0.996;NP=3457;Gene=IFNLR1/NM_170743.3/0;CC=c.802-60T>C;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.802-147T>C;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.671-60T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:10:0:0:48:1557:178.56:25.64:152.93:1.00:1.00:1.00:60:43.2:0:0:105:40:24:NM_170743.3(IL28RA) c.802-60T>C,NM_170743.3(IL28RA) c.802-60T>C:1,1:0.998029,0.998029 1 24485518 rs10751769 T C 230 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.004193,C/0.9958;NP=3468;Gene=IFNLR1/NM_170743.3/0;CC=c.801+24A>G;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.801+24A>G;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.670+446A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:54:0:0:67:1988:230.40:143.68:86.72:1.00:1.00:1.00:60:44.1:0:0:45:99:28:NM_170743.3(IL28RA) c.801+24A>G,NM_170743.3(IL28RA) c.801+24A>G:1,1:0.997155,0.997155 1 24485673 . C . . NT END=24485963;NT GT ./. 1 24485813 rs4649194 T C 103 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.003994,C/0.996;NP=3207;PC=0.573;Gene=IFNLR1/NM_170743.3/0;CC=c.671-141A>G;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.671-141A>G;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.670+151A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:17:0:0:29:894:103.19:62.78:40.41:1.00:1.00:1.00:60:38.7:0:0:74:77:31:NM_170743.3(IL28RA) c.671-141A>G,NM_170743.3(IL28RA) c.671-141A>G:1,1:NOT_FOUND,NOT_FOUND 1 24485941 rs4649195 T C 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.4067,C/0.5933;Gene=IFNLR1/NM_170743.3/0;CC=c.670+23A>G;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.670+23A>G;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.670+23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:51:41:0:0:16,1,34:486,11,1129:42.62,-0.07,0.00:27.05,-0.22,0.00:15.56,0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.9,213.0,11.1:0,0,0:0,0,0:52,50,63:89,100,83:33,0,36:NM_170743.3(IL28RA) c.670+23A>G,-:0.6,-:0.62079,- 1 24486124 . C . . NT END=24488031;NT GT ./. 1 24486216 rs397979650 GT G 39 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=855;Gene=IFNLR1/NM_170743.3/0;CC=c.511-94delA;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.511-94delA;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.511-94delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:32:5:4:13:16,3,13:506,116,411:0.00,6.95,38.56:0.00,-0.06,3.58:0.00,7.01,34.98:0.00,0.00,1.00:0.00,0.00,0.91:0.00,0.00,1.00:60,60,60:34.8,31.3,17.7:8,1,0:0,0,0:124,87,99:25,64,52:11,8,31:-,NM_170743.3(IL28RA) c.511-94delA:-,NOT_FOUND:-,NOT_FOUND 1 24486218 rs112101640 T TTTG 19 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=264;Gene=IFNLR1/NM_170743.3/0;CC=c.511-96_511-95insCAA;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.511-96_511-95insCAA;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.511-96_511-95insCAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:G,T,TTTG:32:5:7:0:1,24,7:30,742,224:1.65,0.00,18.56:1.95,0.00,1.35:-0.30,0.00,17.21:0.00,0.00,0.95:0.00,0.00,0.70:0.00,0.00,1.00:60,60,60:30.0,25.5,34.0:1,0,0:0,0,0:131,107,118:20,43,33:0,23,12:-,NM_170743.3(IL28RA) c.511-96_511-95insCAA:-,NOT_FOUND:-,NOT_FOUND 1 24486227 rs10903037 G GT 7 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;NP=100;Gene=IFNLR1/NM_170743.3/0;CC=c.511-105_511-104insA;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.511-105_511-104insA;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.511-105_511-104insA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:G,T,GT:28:5:3:2:23,2,3:743,62,96:0.00,4.12,6.99:0.00,-0.10,1.31:0.00,4.22,5.68:0.00,0.00,0.44:0.00,0.00,0.42:0.00,0.00,0.87:60,60,60:24.2,64.5,1.7:0,0,0:0,0,0:117,136,128:34,14,22:23,11,5:-,NM_170743.3(IL28RA) c.511-105_511-104insA:-,NOT_FOUND:-,NOT_FOUND 1 24488175 . C . . NT END=24495906;NT GT ./. 1 24488450 rs7552086 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5933,G/0.4067;Gene=IFNLR1/NM_170743.3/0;CC=c.368-276T>C;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.368-276T>C;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.368-276T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:113:13.16:0.00:13.16:1.00:0.00:1.00:60:45.2:0:0:104:46:6:NM_170743.3(IL28RA) c.368-276T>C,NM_170743.3(IL28RA) c.368-276T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 1 24495722 rs4649197 G A 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2989,A/0.7011;Gene=IFNLR1/NM_170743.3/0;CC=c.367+185C>T;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.367+185C>T;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.367+185C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:6:6:0:0:3,3:92,76:8.83,0.00:8.83,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:30.7,19.3:0,0:0,0:30,12:119,139:18,8:NM_170743.3(IL28RA) c.367+185C>T,-:0.7,-:NOT_FOUND,- 1 24496092 . C . . NT END=24507220;NT GT ./. 1 24507172 . A C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;Gene=IFNLR1/NM_170743.3/0;CC=c.182+49T>G;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.182+49T>G;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.182+49T>G;VC=Intron;DM=IFNLR1/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,C:23:11:0:0:19,4:451,98:0.00,7.13:0.00,8.24:0.00,-1.11:0.00,0.69:0.00,0.82:0.00,0.89:60,60:20.8,77.5:0,0:0,0:42,98:109,18:16,12:-,NM_170743.3(IL28RA) c.182+49T>G:-,NOT_FOUND:-,NOT_FOUND 1 24507345 . C . . NT END=24513680;NT GT ./. 1 24507433 rs6680101 A G 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.5827,G/0.4173;Gene=IFNLR1/NM_170743.3/0;CC=c.59-89T>C;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.59-89T>C;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.59-89T>C;VC=Intron;DM=IFNLR1/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:10:0:0:15,18:492,576:0.00,56.31:0.00,8.36:0.00,47.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,77.4:0,0:0,0:115,112:35,39:15,22:-,NM_170743.3(IL28RA) c.59-89T>C:-,0.4:-,NOT_FOUND 1 24507437 rs6665649 G A 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.5827,A/0.4173;PC=0.001;Gene=IFNLR1/NM_170743.3/0;CC=c.59-93C>T;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.59-93C>T;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.59-93C>T;VC=Intron;DM=IFNLR1/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:10:0:0:16,15:530,452:51.33,0.00:8.09,0.00:43.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.6,2.5:0,0:0,0:106,107:45,44:21,27:NM_170743.3(IL28RA) c.59-93C>T,-:0.4,-:NOT_FOUND,- 1 24513608 rs12094257 C T 115 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.7586,T/0.2414;Gene=IFNLR1/NM_170743.3/0;CC=c.58+73G>A;VC=Intron;Gene=IFNLR1/NM_173064.2/1;CC=c.58+73G>A;VC=Intron;Gene=IFNLR1/NM_173065.2/0;CC=c.58+73G>A;VC=Intron;DM=IFNLR1/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:T:30:29:0:0:30:1010:115.30:95.57:19.73:1.00:1.00:1.00:60:48.5:0:0:49:102:35:NM_170743.3(IL28RA) c.58+73G>A,NM_170743.3(IL28RA) c.58+73G>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 24513739 . G . . NT END=24646041;NT GT ./. 1 24513768 rs4090311 G A 234 nt VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.1615,A/0.8385;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:65:42:0:0:65:2033:234.26:82.50:151.76:1.00:1.00:1.00:60:36.7:0:0:91:52:22:NM_170743.3(IL28RA) c.-27-u3C>T,NM_170743.3(IL28RA) c.-27-u3C>T:0.82,0.82:0.940287,0.940287 1 24513924 rs66499832 AGG A 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=105;PC=0.003;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:AGG,A:5:0:0:3:2,3:68,93:0.00,9.27:0.00,0.00:0.00,9.27:0.00,0.78:0.00,0.00:0.00,0.78:60,70:0.0,12.3:0,0:0,0:145,73:5,78:0,12:-,NM_170743.3(IL28RA) c.-27-u161_-27-u160delCC:-,NOT_FOUND:-,NOT_FOUND 1 24526338 rs2011271 T C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04533,C/0.9547;NP=508 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:111:12.98:9.80:3.18:1.00:1.00:1.00:60:86.2:0:0:101:47:28:NR_027087.2(LOC284632) n.-392T>C,NR_027087.2(LOC284632) n.-392T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 24526340 rs2011270 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04573,C/0.9543;NP=511 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:135:15.41:11.83:3.58:1.00:1.00:1.00:60:86.2:0:0:103:45:28:NR_027087.2(LOC284632) n.-390T>C,NR_027087.2(LOC284632) n.-390T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 24646238 . G . . NT END=24649529;NT GT ./. 1 24649608 . g . . NT END=24657915;NT GT ./. 1 24657860 rs2486669 A G 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.7897,G/0.2103;Gene=GRHL3/NM_198173.2/1;CC=c.18-56A>G;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.18-56A>G;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.-121-56A>G;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.33-56A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:50:0:0:29,28:953,848:0.00,80.91:0.00,62.30:0.00,18.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,36.7:0,0:0,0:39,25:112,107:27,21:-,NM_198173.2(GRHL3) c.18-56A>G:-,0.2:-,NOT_FOUND 1 24658063 rs2486668 C G 146 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.8215,G/0.1785;PC=0.998;Gene=GRHL3/NM_198173.2/1;CC=c.165C>G;ProtCh=p.D55E;VC=Missense;Gene=GRHL3/NM_198174.2/0;CC=c.165C>G;ProtCh=p.D55E;VC=Missense;Gene=GRHL3/NM_001195010.1/0;CC=c.27C>G;ProtCh=p.D9E;VC=Missense;Gene=GRHL3/NM_021180.3/0;CC=c.180C>G;ProtCh=p.D60E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:100:55:0:0:54,46:1814,1544:0.00,146.34:0.00,53.90:0.00,92.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,43.3:0,0:0,0:85,63:61,82:30,31:-,NM_198173.2(GRHL3) c.165C>G (p.Asp55Glu):-,0.17:-,0.178764 1 24658103 . G . . NT END=24661134;NT GT ./. 1 24661197 . G . . NT END=24662971;NT GT ./. 1 24663318 . G . . NT END=24663567;NT GT ./. 1 24663642 . G . . NT END=24664125;NT GT ./. 1 24664280 . G . . NT END=24664481;NT GT ./. 1 24664594 . G . . NT END=24666157;NT GT ./. 1 24666253 . G . . NT END=24668604;NT GT ./. 1 24668667 rs11576645 C G 142 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.8423,G/0.1577;PC=0.955;Gene=GRHL3/NM_198173.2/1;CC=c.1110C>G;ProtCh=p.V370=;VC=Silent;Gene=GRHL3/NM_198174.2/0;CC=c.1110C>G;ProtCh=p.V370=;VC=Silent;Gene=GRHL3/NM_001195010.1/0;CC=c.972C>G;ProtCh=p.V324=;VC=Silent;Gene=GRHL3/NM_021180.3/0;CC=c.1125C>G;ProtCh=p.V375=;VC=Silent;DM=GRHL3/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:87:65:0:0:43,44:1382,1472:0.00,141.94:0.00,81.04:0.00,60.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,38.2:0,0:0,0:70,67:79,80:43,38:-,NM_198173.2(GRHL3) c.1110C>G (p.(=)):-,0.15:-,0.181916 1 24668764 . G . . NT END=24669183;NT GT ./. 1 24669263 . G . . NT END=24669381;NT GT ./. 1 24669516 . G . . NT END=24671386;NT GT ./. 1 24671287 rs4648859 C T 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7173,T/0.2827;Gene=GRHL3/NM_198173.2/1;CC=c.1420-100C>T;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1420-100C>T;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1282-100C>T;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1435-100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:27:0:0:17,10:553,306:0.00,27.65:0.00,27.95:0.00,-0.30:0.00,1.00:0.00,1.00:0.00,0.77:60,60:3.6,44.0:0,0:0,0:52,43:98,107:40,24:-,NM_198173.2(GRHL3) c.1420-100C>T:-,0.25:-,NOT_FOUND 1 24671422 . G . . NT END=24673042;NT GT ./. 1 24671464 . ACCCTCCACACCTGTGCC A 18 nt VT=DEL;SST=Single;DP=53;NP=16;Gene=GRHL3/NM_198173.2/1;CC=c.1454+61_1454+77delCCCTCCACACCTGTGCC;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+61_1454+77delCCCTCCACACCTGTGCC;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+61_1316+77delCCCTCCACACCTGTGCC;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+61_1469+77delCCCTCCACACCTGTGCC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:ACCCTCCACACCTGTGCC,C,G,A:53:29:0:8:43,1,1,8:1352,33,10,235:0.00,1.70,-0.18,17.71:0.00,0.90,-0.13,5.56:0.00,0.81,-0.05,12.15:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.97:0.00,0.00,0.00,1.00:60,60,60,60:32.2,169.0,133.0,10.8:0,0,0,0:0,0,0,0:113,101,77,87:30,46,30,64:17,0,0,8:-,NM_198173.2(GRHL3) c.1454+44_1454+60delCCCTCCACACCTGTGCC:-,NOT_FOUND:-,0.487396 1 24671482 rs28722749 C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=584;Gene=GRHL3/NM_198173.2/1;CC=c.1454+61C>T;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+61C>T;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+61C>T;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:20:0:0:35,9:1064,287:0.00,23.32:0.00,4.43:0.00,18.89:0.00,0.99:0.00,0.97:0.00,1.00:60,60:32.9,79.7:8,0:0,0:101,132:40,17:29,6:-,NM_198173.2(GRHL3) c.1454+61C>T:-,NOT_FOUND:-,NOT_FOUND 1 24671485 rs28565954 T G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=336;Gene=GRHL3/NM_198173.2/1;CC=c.1454+64T>G;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+64T>G;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+64T>G;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+64T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,G,T:42:19:0:0:1,8,33:8,247,989:-0.21,19.78,0.00:0.05,2.88,0.00:-0.26,16.90,0.00:0.00,0.97,0.00:0.00,0.95,0.00:0.00,1.00,0.00:60,60,60:8.0,83.8,35.9:0,0,7:0,0,0:149,133,98:2,14,44:0,6,28:NM_198173.2(GRHL3) c.1454+64T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 24671499 rs66910655 T C 10 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=12;Gene=GRHL3/NM_198173.2/1;CC=c.1454+78T>C;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+78T>C;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+78T>C;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+78T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:C,T:34:9:0:1:5,29:135,843:9.75,0.00:4.49,0.00:5.26,0.00:0.79,0.00:0.70,0.00:0.97,0.00:60,60:103.2,35.6:0,8:0,0:148,87:3,49:1,29:NM_198173.2(GRHL3) c.1454+78T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 24671563 . GC G 18 nt VT=DEL;SST=Single;DP=14;NP=174;Gene=GRHL3/NM_198173.2/1;CC=c.1454+147delC;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+147delC;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+147delC;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+147delC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:GC,G:14:0:0:6:8,6:270,193:0.00,18.01:0.00,0.00:0.00,18.01:0.00,0.96:0.00,0.00:0.00,0.96:60,60:65.8,65.8:0,0:0,0:138,116:11,32:8,9:-,NM_198173.2(GRHL3) c.1454+143delC:-,NOT_FOUND:-,NOT_FOUND 1 24671564 rs11352138 C T 17 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=51;Gene=GRHL3/NM_198173.2/1;CC=c.1454+143C>T;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+143C>T;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+143C>T;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,T:7:0:0:6:2,5:65,163:0.00,16.87:0.00,0.00:0.00,16.87:0.00,0.98:0.00,0.00:0.00,0.98:51,60:112.0,58.4:0,0:0,0:119,137:28,14:23,9:-,NM_198173.2(GRHL3) c.1454+143C>T:-,NOT_FOUND:-,NOT_FOUND 1 24671571 rs56238676 T C 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=279;Gene=GRHL3/NM_198173.2/1;CC=c.1454+150T>C;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+150T>C;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+150T>C;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:C,T:10:0:0:0:9,1:316,33:34.48,0.00:0.00,0.00:34.48,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,25:67.8,224.0:0,0:0,0:125,103:21,45:14,0:NM_198173.2(GRHL3) c.1454+150T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 24671580 . G GT 20 nt VT=INS;SST=Single;DP=9;NP=12;NP=17;NP=2;PC=0.468;Gene=GRHL3/NM_198173.2/1;CC=c.1454+159_1454+160insT;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1454+159_1454+160insT;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1316+159_1316+160insT;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1469+159_1469+160insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:G,GT:9:0:6:0:3,6:102,194:0.00,19.77:0.00,0.00:0.00,19.77:0.00,0.99:0.00,0.00:0.00,0.99:60,60:113.3,70.8:0,0:0,0:144,125:5,22:6,11:-,NM_198173.2(GRHL3) c.1454+159_1454+160insT:-,NOT_FOUND:-,NOT_FOUND 1 24673132 . G . . NT END=24673957;NT GT ./. 1 24673866 rs6691722 A G 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4227,G/0.5773;Gene=GRHL3/NM_198173.2/1;CC=c.1544-92A>G;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1544-92A>G;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1406-92A>G;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1559-92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:27:0:0:16,13:479,398:0.00,37.36:0.00,31.59:0.00,5.77:0.00,1.00:0.00,1.00:0.00,0.98:60,60:12.6,38.4:0,0:0,0:46,42:104,109:44,27:-,NM_198173.2(GRHL3) c.1544-92A>G:-,0.57:-,NOT_FOUND 1 24674044 . G . . NT END=24676547;NT GT ./. 1 24676616 . A . . NT END=24680863;NT GT ./. 1 24676829 rs6655974 T G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.756,G/0.244;Gene=GRHL3/NM_198173.2/1;CC=c.1694+217T>G;VC=Intron;Gene=GRHL3/NM_198174.2/0;CC=c.1694+217T>G;VC=Intron;Gene=GRHL3/NM_001195010.1/0;CC=c.1556+217T>G;VC=Intron;Gene=GRHL3/NM_021180.3/0;CC=c.1709+217T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G,T:8:0:0:0:1,4,3:21,133,97:1.50,13.10,0.00:0.00,0.00,0.00:1.50,13.10,0.00:0.00,0.87,0.00:0.00,0.00,0.00:0.00,0.87,0.00:24,60,60:236.0,35.5,12.0:0,0,0:0,0,0:113,92,63:17,58,88:0,31,7:NM_198173.2(GRHL3) c.1694+217T>G,-:0.22,-:NOT_FOUND,- 1 24680979 . G . . NT END=24685032;NT GT ./. 1 24685110 . C . . NT END=24687340;NT GT ./. 1 24687532 . C . . NT END=24696163;NT GT ./. 1 24687653 rs532147 T C 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2097,C/0.7903;Gene=GRHL3/NM_198174.2/0;CC=c.1695-3022T>C;VC=Intron;Gene=STPG1/NM_001199013.1/0;CC=c.738-122A>G;VC=Intron;Gene=STPG1/NM_001199014.1/1;CC=c.462-122A>G;VC=Intron;Gene=STPG1/NM_178122.4/0;CC=c.597-122A>G;VC=Intron;Gene=STPG1/NM_001199012.1/0;CC=c.738-122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:376:44.13:0.00:44.13:1.00:0.00:1.00:60:38.7:0:0:93:57:29:NM_001199012.1(STPG1) c.738-122A>G,NM_001199012.1(STPG1) c.738-122A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 24696330 . C . . NT END=24700191;NT GT ./. 1 24700301 . C . . NT END=24706142;NT GT ./. 1 24706314 . C . . NT END=24710391;NT GT ./. 1 24710494 . C . . NT END=24718050;NT GT ./. 1 24718079 rs560219 C A 128 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7658,A/0.2342;PC=1.000;Gene=STPG1/NM_001199013.1/0;CC=c.161G>T;ProtCh=p.S54I;VC=Missense;Gene=STPG1/NM_001199014.1/1;CC=c.-116G>T;VC=5UTR;Gene=STPG1/NM_178122.4/0;CC=c.49-7586G>T;VC=Intron;Gene=STPG1/NM_001199012.1/0;CC=c.161G>T;ProtCh=p.S54I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:27:0:0:34:1120:128.16:76.69:51.47:1.00:1.00:1.00:60:41.3:0:0:72:78:24:NM_001199012.1(STPG1) c.161G>T (p.Ser54Ile),NM_001199012.1(STPG1) c.161G>T (p.Ser54Ile):0.25,0.25:NOT_FOUND,NOT_FOUND 1 24718170 . C . . NT END=24718413;NT GT ./. 1 24718318 rs397764285 T TA 124 rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.3848,TA/0.6152;DB;DBA=NA;PAF=T/0.3848,TA/0.6152;DB;DBA=NA;PAF=T/0.3848,TA/0.6152;NP=16;PC=0.016;Gene=STPG1/NM_001199013.1/0;CC=c.71-150dupT;VC=Intron;Gene=STPG1/NM_001199014.1/1;CC=c.-207+95dupT;VC=Intron;Gene=STPG1/NM_178122.4/0;CC=c.49-7826dupT;VC=Intron;Gene=STPG1/NM_001199012.1/0;CC=c.71-150dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T,TA:39:34:36:0:3,36:86,1119:0.00,124.48:0.00,110.05:0.00,14.43:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.7,10.8:0,0:0,0:145,39:5,110:1,19:NM_001199012.1(STPG1) c.71-150_71-149insT,NM_001199012.1(STPG1) c.71-150_71-149insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 24718558 . C . . NT END=24727808;NT GT ./. 1 24727678 rs2078445 C T 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2772,T/0.7228;PC=0.001;Gene=STPG1/NM_001199013.1/0;CC=c.70+131G>A;VC=Intron;Gene=STPG1/NM_001199014.1/1;CC=c.-351+131G>A;VC=Intron;Gene=STPG1/NM_178122.4/0;CC=c.48+131G>A;VC=Intron;Gene=STPG1/NM_001199012.1/0;CC=c.70+131G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:228:26.56:26.56:0.00:1.00:1.00:0.00:60:47.0:0:0:29:121:17:NM_001199012.1(STPG1) c.70+131G>A,NM_001199012.1(STPG1) c.70+131G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 24727879 . G . . NT END=24742304;NT GT ./. 1 24742395 . G . . NT END=24742514;NT GT ./. 1 24742790 . G . . NT END=24745780;NT GT ./. 1 24745704 rs760969 T G 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8069,G/0.1931;Gene=NIPAL3/NM_020448.4/1;CC=c.-257-77T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:22:0:0:26:845:96.87:79.18:17.70:1.00:1.00:1.00:60:49.8:0:0:38:112:28:NM_020448.4(NIPAL3) c.-257-77T>G,NM_020448.4(NIPAL3) c.-257-77T>G:0.21,0.21:NOT_FOUND,NOT_FOUND 1 24746131 . G . . NT END=24766661;NT GT ./. 1 24766731 . G . . NT END=24768544;NT GT ./. 1 24768717 . G . . NT END=24771674;NT GT ./. 1 24768778 rs4648863 G C 205 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.265,C/0.735;Gene=NIPAL3/NM_020448.4/1;CC=c.334+62G>C;VC=Intron;DM=NIPAL3/Mg_trans_NIPA;DM=NIPAL3/Mg_trans_NIPA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:C:58:9:0:0:58:1773:204.81:23.21:181.60:1.00:1.00:1.00:60:39.3:0:0:125:21:19:NM_020448.4(NIPAL3) c.334+62G>C,NM_020448.4(NIPAL3) c.334+62G>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 24771735 . G . . NT END=24775970;NT GT ./. 1 24772559 rs58526442 C CTGTGTGT 10 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;Gene=NIPAL3/NM_020448.4/1;CC=c.394+825_394+826insTGTGTGT;VC=Intron;DM=NIPAL3/Mg_trans_NIPA;DM=NIPAL3/Mg_trans_NIPA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTGTGTGT:3:4:6:0:3:180:9.83:4.86:4.96:0.73:0.51:0.89:70:83.3:3:0:55:63:7:NM_020448.4(NIPAL3) c.394+825_394+826insTGTGTGT,NM_020448.4(NIPAL3) c.394+825_394+826insTGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 24775967 rs4648989 G A 356 nt VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.8279,A/0.1721;PC=0.001;Gene=NIPAL3/NM_020448.4/1;CC=c.395-4G>A;VC=Intron;DM=NIPAL3/Mg_trans_NIPA;DM=NIPAL3/Mg_trans_NIPA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:98:83:0:0:97,1:3105,9:356.18,0.08:234.41,0.00:121.78,0.08:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,9.0:0,0:0,0:57,43:91,105:34,0:NM_020448.4(NIPAL3) c.395-4G>A,NM_020448.4(NIPAL3) c.395-4G>A:0.19,0.19:0.173382,0.173382 1 24776117 . G . . NT END=24779897;NT GT ./. 1 24779873 rs1883462 C T 145 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7075,A/.,T/0.2925;PC=0.002;Gene=NIPAL3/NM_020448.4/1;CC=c.541-25C>T;VC=Intron;DM=NIPAL3/Mg_trans_NIPA;DM=NIPAL3/Mg_trans_NIPA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G,T:42:36:0:0:1,41:12,1259:0.31,144.87:0.31,90.08:0.00,54.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:69.0,35.2:0,0:0,0:133,56:18,91:0,28:NM_020448.4(NIPAL3) c.541-25C>T,NM_020448.4(NIPAL3) c.541-25C>T:0.31,0.31:0.335614,0.335614 1 24779995 . G . . NT END=24780662;NT GT ./. 1 24780521 rs67528293 CT C 34 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=CT/0.5693,C/0.4307;NP=3;PC=0.020;Gene=NIPAL3/NM_020448.4/1;CC=c.637+542delT;VC=Intron;DM=NIPAL3/Mg_trans_NIPA;DM=NIPAL3/Mg_trans_NIPA;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:20:21:1:12:8,1,11:230,32,366:0.00,2.19,33.59:0.00,2.19,33.59:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,70:48.6,0.0,39.9:0,0,1:0,0,0:81,31,25:60,120,126:40,0,15:-,NM_020448.4(NIPAL3) c.637+528delT:-,NOT_FOUND:-,NOT_FOUND 1 24781056 . a . . NT END=24782627;NT GT ./. 1 24781164 rs2281187 T C 81 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.746,C/0.254;PC=0.001;Gene=NIPAL3/NM_020448.4/1;CC=c.637+1170T>C;VC=Intron;DM=NIPAL3/Mg_trans_NIPA;DM=NIPAL3/Mg_trans_NIPA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:1:0:0:22:702:80.67:1.99:78.69:1.00:1.00:1.00:60:41.4:0:0:122:28:26:NM_020448.4(NIPAL3) c.637+1170T>C,NM_020448.4(NIPAL3) c.637+1170T>C:0.26,0.26:NOT_FOUND,NOT_FOUND 1 24781247 rs2281188 T C 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4305,C/0.5695;Gene=NIPAL3/NM_020448.4/1;CC=c.637+1253T>C;VC=Intron;DM=NIPAL3/Mg_trans_NIPA;DM=NIPAL3/Mg_trans_NIPA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:60.8:0:0:124:27:12:NM_020448.4(NIPAL3) c.637+1253T>C,NM_020448.4(NIPAL3) c.637+1253T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 24782764 . G . . NT END=24785377;NT GT ./. 1 24785467 . G . . NT END=24786970;NT GT ./. 1 24787035 . G . . NT END=24790515;NT GT ./. 1 24790611 . G . . NT END=24792493;NT GT ./. 1 24792617 rs195725 T A 199 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.3538,A/0.6462;Gene=NIPAL3/NM_020448.4/1;CC=c.1021+2007T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:A:55:22:0:0:55:1725:198.71:55.57:143.15:1.00:1.00:1.00:60:36.2:0:0:97:49:23:NM_020448.4(NIPAL3) c.1021+2007T>A,NM_020448.4(NIPAL3) c.1021+2007T>A:0.66,0.66:0.60405,0.60405 1 24792634 . a . . NT END=24795475;NT GT ./. 1 24795676 . G . . NT END=24840862;NT GT ./. 1 24840768 rs196403 G A 133 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.3385,A/0.6615;Gene=RCAN3/NM_001251979.1/1;CC=c.-59-36G>A;VC=Intron;Gene=RCAN3/NM_001251984.1/0;CC=c.-181+11815G>A;VC=Intron;Gene=RCAN3/NM_001251977.1/0;CC=c.-59-36G>A;VC=Intron;Gene=RCAN3/NM_001251981.1/0;CC=c.-59-36G>A;VC=Intron;Gene=RCAN3/NM_001251983.1/0;CC=c.-181+11128G>A;VC=Intron;Gene=RCAN3/NM_013441.3/0;CC=c.-59-36G>A;VC=Intron;Gene=RCAN3/NM_001251978.1/0;CC=c.-59-36G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:35:0:0:37:1150:132.55:121.92:10.63:1.00:1.00:1.00:60:47.1:0:0:57:94:38:NM_013441.3(RCAN3) c.-59-36G>A,NM_013441.3(RCAN3) c.-59-36G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 24841058 . G . . NT END=24857707;NT GT ./. 1 24857503 rs85063 C A 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4151,A/0.5849;Gene=RCAN3/NM_001251979.1/1;CC=c.196-205C>A;VC=Intron;Gene=RCAN3/NM_001251984.1/0;CC=c.-180-205C>A;VC=Intron;Gene=RCAN3/NM_001251977.1/0;CC=c.196-205C>A;VC=Intron;Gene=RCAN3/NM_001251981.1/0;CC=c.196-2070C>A;VC=Intron;Gene=RCAN3/NM_001251983.1/0;CC=c.-180-205C>A;VC=Intron;Gene=RCAN3/NM_013441.3/0;CC=c.196-205C>A;VC=Intron;Gene=RCAN3/NM_001251978.1/0;CC=c.196-205C>A;VC=Intron;Gene=RCAN3/NM_001251980.1/0;CC=c.196-205C>A;VC=Intron;Gene=RCAN3/NM_001251982.1/0;CC=c.196-205C>A;VC=Intron;Gene=RCAN3/NM_001251985.1/0;CC=c.196-4080C>A;VC=Intron;DM=RCAN3/Calcipressin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:164:18.78:15.11:3.68:1.00:1.00:1.00:60:38.2:0:0:25:126:19:NM_013441.3(RCAN3) c.196-205C>A,NM_013441.3(RCAN3) c.196-205C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 24857657 rs12145768 C CT 11 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=6;Gene=RCAN3/NM_001251979.1/1;CC=c.196-39dupT;VC=Intron;Gene=RCAN3/NM_001251984.1/0;CC=c.-180-39dupT;VC=Intron;Gene=RCAN3/NM_001251977.1/0;CC=c.196-39dupT;VC=Intron;Gene=RCAN3/NM_001251981.1/0;CC=c.196-1904dupT;VC=Intron;Gene=RCAN3/NM_001251983.1/0;CC=c.-180-39dupT;VC=Intron;Gene=RCAN3/NM_013441.3/0;CC=c.196-39dupT;VC=Intron;Gene=RCAN3/NM_001251978.1/0;CC=c.196-39dupT;VC=Intron;Gene=RCAN3/NM_001251980.1/0;CC=c.196-39dupT;VC=Intron;Gene=RCAN3/NM_001251982.1/0;CC=c.196-39dupT;VC=Intron;Gene=RCAN3/NM_001251985.1/0;CC=c.196-3914dupT;VC=Intron;DM=RCAN3/Calcipressin;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,CT,D:39:36:5:6:30,5,4:1012,152,170:0.00,11.33,8.43:0.00,8.97,5.77:0.00,2.36,2.67:0.00,0.76,0.00:0.00,0.96,0.00:0.00,0.66,0.00:60,60,60:26.3,31.4,130.2:0,0,2:0,0,0:40,56,55:109,94,95:20,25,35:-,NM_013441.3(RCAN3) c.196-51_196-50insT:-,NOT_FOUND:-,NOT_FOUND 1 24857882 . G . . NT END=24859572;NT GT ./. 1 24859324 rs61775223 C T 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8822,T/0.1178;PC=0.047;Gene=RCAN3/NM_001251979.1/1;CC=c.370-249C>T;VC=Intron;Gene=RCAN3/NM_001251984.1/0;CC=c.-6-249C>T;VC=Intron;Gene=RCAN3/NM_001251977.1/0;CC=c.370-249C>T;VC=Intron;Gene=RCAN3/NM_001251981.1/0;CC=c.196-249C>T;VC=Intron;Gene=RCAN3/NM_001251983.1/0;CC=c.-6-249C>T;VC=Intron;Gene=RCAN3/NM_013441.3/0;CC=c.370-249C>T;VC=Intron;Gene=RCAN3/NM_001251978.1/0;CC=c.370-249C>T;VC=Intron;Gene=RCAN3/NM_001251980.1/0;CC=c.370-279C>T;VC=Intron;Gene=RCAN3/NM_001251982.1/0;CC=c.369+1443C>T;VC=Intron;Gene=RCAN3/NM_001251985.1/0;CC=c.196-2259C>T;VC=Intron;DM=RCAN3/Calcipressin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:8:8:0:0:3,5:77,163:0.00,16.39:0.00,16.39:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:40.7,32.6:0,0:0,0:65,46:65,103:18,44:-,NM_013441.3(RCAN3) c.370-249C>T:-,0.11:-,NOT_FOUND 1 24859438 . C CA 11 idl,rn VT=INS;SST=Single;DP=18;PC=0.004;Gene=RCAN3/NM_001251979.1/1;CC=c.370-108_370-107insA;VC=Intron;Gene=RCAN3/NM_001251984.1/0;CC=c.-6-108_-6-107insA;VC=Intron;Gene=RCAN3/NM_001251977.1/0;CC=c.370-108_370-107insA;VC=Intron;Gene=RCAN3/NM_001251981.1/0;CC=c.196-108_196-107insA;VC=Intron;Gene=RCAN3/NM_001251983.1/0;CC=c.-6-108_-6-107insA;VC=Intron;Gene=RCAN3/NM_013441.3/0;CC=c.370-108_370-107insA;VC=Intron;Gene=RCAN3/NM_001251978.1/0;CC=c.370-108_370-107insA;VC=Intron;Gene=RCAN3/NM_001251980.1/0;CC=c.370-138_370-137insA;VC=Intron;Gene=RCAN3/NM_001251982.1/0;CC=c.369+1584_369+1585insA;VC=Intron;Gene=RCAN3/NM_001251985.1/0;CC=c.196-2118_196-2117insA;VC=Intron;DM=RCAN3/Calcipressin;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,CA,D:15:18:6:2:10,4,1:314,183,63:0.00,10.81,1.98:0.00,10.81,1.98:0.00,0.00,0.00:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.00,0.00:60,60,60:68.2,146.8,55.0:0,2,1:0,0,0:89,53,34:44,91,116:40,11,4:-,NM_013441.3(RCAN3) c.370-135_370-134insA:-,NOT_FOUND:-,NOT_FOUND 1 24859466 . G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;NP=1;Gene=RCAN3/NM_001251979.1/1;CC=c.370-107G>A;VC=Intron;Gene=RCAN3/NM_001251984.1/0;CC=c.-6-107G>A;VC=Intron;Gene=RCAN3/NM_001251977.1/0;CC=c.370-107G>A;VC=Intron;Gene=RCAN3/NM_001251981.1/0;CC=c.196-107G>A;VC=Intron;Gene=RCAN3/NM_001251983.1/0;CC=c.-6-107G>A;VC=Intron;Gene=RCAN3/NM_013441.3/0;CC=c.370-107G>A;VC=Intron;Gene=RCAN3/NM_001251978.1/0;CC=c.370-107G>A;VC=Intron;Gene=RCAN3/NM_001251980.1/0;CC=c.370-137G>A;VC=Intron;Gene=RCAN3/NM_001251982.1/0;CC=c.369+1585G>A;VC=Intron;Gene=RCAN3/NM_001251985.1/0;CC=c.196-2117G>A;VC=Intron;DM=RCAN3/Calcipressin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:25:24:0:1:7,18:154,513:12.30,0.00:12.52,0.00:-0.21,0.00:0.96,0.00:1.00,0.00:0.57,0.00:60,60:116.1,21.8:0,0:0,0:76,8:64,142:13,8:NM_013441.3(RCAN3) c.370-107G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 24859617 rs196429 G A 181 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.6164,A/0.3836;Gene=RCAN3/NM_001251979.1/1;CC=c.414G>A;ProtCh=p.P138=;VC=Silent;Gene=RCAN3/NM_001251984.1/0;CC=c.39G>A;ProtCh=p.P13=;VC=Silent;Gene=RCAN3/NM_001251977.1/0;CC=c.414G>A;ProtCh=p.P138=;VC=Silent;Gene=RCAN3/NM_001251981.1/0;CC=c.240G>A;ProtCh=p.P80=;VC=Silent;Gene=RCAN3/NM_001251983.1/0;CC=c.39G>A;ProtCh=p.P13=;VC=Silent;Gene=RCAN3/NM_013441.3/0;CC=c.414G>A;ProtCh=p.P138=;VC=Silent;Gene=RCAN3/NM_001251978.1/0;CC=c.414G>A;ProtCh=p.P138=;VC=Silent;Gene=RCAN3/NM_001251980.1/0;CC=c.384G>A;ProtCh=p.P128=;VC=Silent;Gene=RCAN3/NM_001251982.1/0;CC=c.369+1736G>A;VC=Intron;Gene=RCAN3/NM_001251985.1/0;CC=c.196-1966G>A;VC=Intron;DM=RCAN3/Calcipressin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:118:92:0:0:60,58:1878,1797:181.06,0.00:98.99,0.00:82.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.1,7.6:0,0:0,0:81,70:66,75:35,24:NM_013441.3(RCAN3) c.414G>A (p.(=)),-:0.41,-:0.301553,- 1 24859665 rs196430 G A 174 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.6164,A/0.3836;Gene=RCAN3/NM_001251979.1/1;CC=c.462G>A;ProtCh=p.P154=;VC=Silent;Gene=RCAN3/NM_001251984.1/0;CC=c.87G>A;ProtCh=p.P29=;VC=Silent;Gene=RCAN3/NM_001251977.1/0;CC=c.462G>A;ProtCh=p.P154=;VC=Silent;Gene=RCAN3/NM_001251981.1/0;CC=c.288G>A;ProtCh=p.P96=;VC=Silent;Gene=RCAN3/NM_001251983.1/0;CC=c.87G>A;ProtCh=p.P29=;VC=Silent;Gene=RCAN3/NM_013441.3/0;CC=c.462G>A;ProtCh=p.P154=;VC=Silent;Gene=RCAN3/NM_001251978.1/0;CC=c.462G>A;ProtCh=p.P154=;VC=Silent;Gene=RCAN3/NM_001251980.1/0;CC=c.432G>A;ProtCh=p.P144=;VC=Silent;Gene=RCAN3/NM_001251982.1/0;CC=c.369+1784G>A;VC=Intron;Gene=RCAN3/NM_001251985.1/0;CC=c.196-1918G>A;VC=Intron;DM=RCAN3/Calcipressin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:60:0:0:57,51:1795,1534:174.25,0.00:66.48,0.00:107.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.6,5.2:0,0:0,0:75,86:72,65:39,38:NM_013441.3(RCAN3) c.462G>A (p.(=)),-:0.41,-:0.301784,- 1 24859745 . G . . NT END=24861582;NT GT ./. 1 24861704 rs196432 G A 482 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.4908,A/0.5092;Gene=RCAN3/NM_001251979.1/1;CC=c.663G>A;ProtCh=p.T221=;VC=Silent;Gene=RCAN3/NM_001251984.1/0;CC=c.288G>A;ProtCh=p.T96=;VC=Silent;Gene=RCAN3/NM_001251977.1/0;CC=c.663G>A;ProtCh=p.T221=;VC=Silent;Gene=RCAN3/NM_001251981.1/0;CC=c.489G>A;ProtCh=p.T163=;VC=Silent;Gene=RCAN3/NM_001251983.1/0;CC=c.288G>A;ProtCh=p.T96=;VC=Silent;Gene=RCAN3/NM_013441.3/0;CC=c.663G>A;ProtCh=p.T221=;VC=Silent;Gene=RCAN3/NM_001251978.1/0;CC=c.663G>A;ProtCh=p.T221=;VC=Silent;Gene=RCAN3/NM_001251980.1/0;CC=c.633G>A;ProtCh=p.T211=;VC=Silent;Gene=RCAN3/NM_001251982.1/0;CC=c.491G>A;ProtCh=p.R164Q;VC=Missense;Gene=RCAN3/NM_001251985.1/0;CC=c.317G>A;ProtCh=p.R106Q;VC=Missense;DM=RCAN3/Calcipressin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:133:89:0:0:133:4194:482.44:244.87:237.57:1.00:1.00:1.00:60:40.2:0:0:72:71:33:NM_013441.3(RCAN3) c.663G>A (p.(=)),NM_013441.3(RCAN3) c.663G>A (p.(=)):0.52,0.52:0.462171,0.462171 1 24861768 . G . . NT END=24921921;NT GT ./. 1 24922004 . G . . NT END=24927430;NT GT ./. 1 24927516 . G . . NT END=24932096;NT GT ./. 1 24927561 rs4553122 T C 73 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.4481,C/0.5519;Gene=NCMAP/NM_001010980.4/1;CC=c.167+46T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:16:0:0:24,22:759,662:73.45,0.00:24.63,0.00:48.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,9.2:0,0:0,0:120,107:30,43:13,19:NM_001010980.4(NCMAP) c.167+46T>C,-:0.55,-:0.54298,- 1 24927727 rs55691364 C T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NCMAP/NM_001010980.4/1;CC=c.167+212C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T:8:0:0:0:1,7:32,237:0.00,25.73:0.00,0.00:0.00,25.73:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,75.6:0,0:0,0:90,78:60,72:0,44:-,NM_001010980.4(NCMAP) c.167+212C>T:-,0.31:-,NOT_FOUND 1 24927731 rs56316061 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6326,A/0.3674;Gene=NCMAP/NM_001010980.4/1;CC=c.167+216G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,G:8:0:0:0:7,1:213,35:23.32,0.00:0.00,0.00:23.32,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:75.6,0.0:0,0:0,0:82,94:68,56:44,0:NM_001010980.4(NCMAP) c.167+216G>A,-:0.35,-:NOT_FOUND,- 1 24932239 . C . . NT END=24969817;NT GT ./. 1 24969839 . G . . NT END=24972474;NT GT ./. 1 24972565 . G . . NT END=24973157;NT GT ./. 1 24973013 rs74903088 C CA 19 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.073;Gene=SRRM1/NM_001303448.1/1;CC=c.112-127_112-126insA;VC=Intron;Gene=SRRM1/NM_005839.3/0;CC=c.112-127_112-126insA;VC=Intron;Gene=SRRM1/NM_001303449.1/0;CC=c.-6-127_-6-126insA;VC=Intron;DM=SRRM1/PWI;DM=SRRM1/PWI;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,CA,D:16:19:7:6:6,6,4:183,230,204:0.00,18.57,12.19:0.00,18.57,12.19:0.00,0.00,0.00:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.00,0.00:60,60,60:21.0,12.8,12.8:0,1,2:0,0,0:46,37,71:104,113,79:25,9,10:-,NM_005839.3(SRRM1) c.112-145_112-144insA:-,NOT_FOUND:-,NOT_FOUND 1 24973281 . G . . NT END=24975349;NT GT ./. 1 24975521 . G . . NT END=24976461;NT GT ./. 1 24976578 . G . . NT END=24977899;NT GT ./. 1 24978104 . G . . NT END=24978924;NT GT ./. 1 24978892 rs60568839 CA C 37 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=91;PC=0.001;Gene=SRRM1/NM_001303448.1/1;CC=c.726-17delA;VC=Intron;Gene=SRRM1/NM_005839.3/0;CC=c.726-17delA;VC=Intron;Gene=SRRM1/NM_001303449.1/0;CC=c.609-17delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:42:46:3:19:1,25,3,13:25,762,100,611:1.09,0.00,7.12,37.22:-0.21,0.00,7.18,32.58:1.30,0.00,-0.06,4.64:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.86:60,60,60,60:36.0,44.5,60.3,10.7:0,0,0,6:0,0,0,0:72,48,39,36:79,99,109,107:0,40,5,22:-,NM_005839.3(SRRM1) c.726-32delA:-,NOT_FOUND:-,NOT_FOUND 1 24979120 . G . . NT END=24979403;NT GT ./. 1 24979524 . G . . NT END=24980796;NT GT ./. 1 24980835 . G . . NT END=24981345;NT GT ./. 1 24981621 . G . . NT END=24987209;NT GT ./. 1 24987291 . G . . NT END=24987800;NT GT ./. 1 24987302 rs58604320 G GT 11 rn VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9473,GT/0.05272,GTT/.;DB;DBA=NA;PAF=G/0.9473,GT/0.05272;NP=75;PC=1.000;Gene=SRRM1/NM_001303448.1/1;CC=c.1390+21dupT;VC=Intron;Gene=SRRM1/NM_005839.3/0;CC=c.1396+21dupT;VC=Intron;Gene=SRRM1/NM_001303449.1/0;CC=c.1273+21dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:G,GT:70:32:6:0:64,6:2120,169:0.00,10.91:0.00,3.14:0.00,7.77:0.00,0.80:0.00,0.85:0.00,0.98:60,60:10.1,18.5:0,0:0,0:106,107:41,31:25,23:-,NM_005839.3(SRRM1) c.1396+12_1396+13insT:-,0.07:-,NOT_FOUND 1 24987888 . G . . NT END=24989150;NT GT ./. 1 24989296 . G . . NT END=24989673;NT GT ./. 1 24989716 . G . . NT END=24993305;NT GT ./. 1 24989762 rs4649011 G T 170 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.009585,A/.,T/0.9904;Gene=SRRM1/NM_001303448.1/1;CC=c.1664+47G>T;VC=Intron;Gene=SRRM1/NM_005839.3/0;CC=c.1628+467G>T;VC=Intron;Gene=SRRM1/NM_001303449.1/0;CC=c.1547+47G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:26:0:0:47:1479:170.23:55.33:114.90:1.00:1.00:1.00:60:46.0:0:0:98:50:24:NM_005839.3(SRRM1) c.1628+467G>T,NM_005839.3(SRRM1) c.1628+467G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 24993417 . G . . NT END=24995613;NT GT ./. 1 24996079 . G . . NT END=24996610;NT GT ./. 1 24996807 . G . . NT END=24997876;NT GT ./. 1 24998087 . G . . NT END=24998672;NT GT ./. 1 24998778 . G . . NT END=25072044;NT GT ./. 1 25072117 . G . . NT END=25124232;NT GT ./. 1 25123990 rs11249173 G A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4906,A/0.5094;PC=0.034;Gene=CLIC4/NM_013943.2/1;CC=c.73-243G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:70:39.6:0:0:30:121:18:NM_013943.2(CLIC4) c.73-243G>A,NM_013943.2(CLIC4) c.73-243G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 25124053 rs71032862 G GA 33 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5779,GA/0.4221,GAA/.,GAAA/.;DB;DBA=NA;PAF=G/0.5779,GA/0.4221;NP=1;NP=3;PC=0.163;Gene=CLIC4/NM_013943.2/1;CC=c.73-165_73-164insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:G,GA:14:15:11:0:4,10:141,353:0.00,33.20:0.00,33.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:39.8,12.8:0,1:0,0:58,37:93,112:43,32:-,NM_013943.2(CLIC4) c.73-180_73-179insA:-,NOT_FOUND:-,NOT_FOUND 1 25124343 . G . . NT END=25140584;NT GT ./. 1 25140249 rs10903105 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4908,A/0.5092;Gene=CLIC4/NM_013943.2/1;CC=c.183-336G>A;VC=Intron;DM=CLIC4/GST_N_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:167:19.08:19.08:0.00:1.00:1.00:0.00:60:80.0:0:0:53:98:13:NM_013943.2(CLIC4) c.183-336G>A,NM_013943.2(CLIC4) c.183-336G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 25140711 . G . . NT END=25153500;NT GT ./. 1 25151551 rs4649021 A T 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.02436,T/0.9756;PC=0.010;Gene=CLIC4/NM_013943.2/1;CC=c.309-1950A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:2:0:0:7:227:26.04:5.42:20.62:1.00:1.00:1.00:60:55.1:0:0:83:66:14:NM_013943.2(CLIC4) c.309-1950A>T,NM_013943.2(CLIC4) c.309-1950A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 25153429 rs41292295 A C 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9946,C/0.005391,G/.;NP=58;Gene=CLIC4/NM_013943.2/1;CC=c.309-72A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:18:0:0:7,11:240,343:0.00,34.32:0.00,32.74:0.00,1.58:0.00,1.00:0.00,1.00:0.00,0.87:60,60:3.3,40.7:0,0:0,0:55,59:95,91:28,34:-,NM_013943.2(CLIC4) c.309-72A>C:-,0.0041:-,NOT_FOUND 1 25153608 . G . . NT END=25166350;NT GT ./. 1 25153692 rs4649022 G A 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.02436,A/0.9756;Gene=CLIC4/NM_013943.2/1;CC=c.415+85G>A;VC=Intron;DM=CLIC4/GST_C_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:335:38.74:0.00:38.74:1.00:0.00:1.00:60:34.4:0:0:130:21:17:NM_013943.2(CLIC4) c.415+85G>A,NM_013943.2(CLIC4) c.415+85G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 25166082 rs12030164 G A 15 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7748,A/0.2252;Gene=CLIC4/NM_013943.2/1;CC=c.416-269G>A;VC=Intron;DM=CLIC4/GST_C_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:13.32:1.59:1.00:1.00:1.00:60:35.0:0:0:36:115:22:NM_013943.2(CLIC4) c.416-269G>A,NM_013943.2(CLIC4) c.416-269G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 1 25166533 . G . . NT END=25167263;NT GT ./. 1 25167429 . A . . NT END=25228612;NT GT ./. 1 25202847 rs12745366 C A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.067 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:78:9.65:9.65:0.00:1.00:1.00:0.00:60:36.5:0:0:82:67:54:chr1 g.25202846C>A (intergenic),chr1 g.25202846C>A (intergenic):0.1,0.1:NOT_FOUND,NOT_FOUND 1 25229158 . C . . NT END=25233749;NT GT ./. 1 25233909 . C . . NT END=25245730;NT GT ./. 1 25234062 rs34878696 T G 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.5058,G/0.4942;PC=0.001;Gene=RUNX3/NM_004350.2/0;CC=c.545-154A>C;VC=Intron;Gene=RUNX3/NM_001031680.2/1;CC=c.587-154A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:0:0:0:11,18:381,521:35.00,0.00:0.00,0.00:35.00,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.1,29.3:0,0:0,0:65,116:86,33:23,20:NM_001031680.2(RUNX3) c.587-154A>C,-:0.49,-:NOT_FOUND,- 1 25245836 . C . . NT END=25254064;NT GT ./. 1 25254222 . C . . NT END=25256077;NT GT ./. 1 25256771 . g . . NT END=25291004;NT GT ./. 1 25291010 rs6672420 A T 116 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.4223,T/0.5777;PC=1.000;Gene=RUNX3/NM_001031680.2/1;CC=c.53T>A;ProtCh=p.I18N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:77:67:0:0:38,39:1215,1208:0.00,116.18:0.00,80.28:0.00,35.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,41.9:0,0:0,0:39,49:109,102:30,23:-,NM_001031680.2(RUNX3) c.53T>A (p.Ile18Asn):-,0.55:-,0.46355 1 25291210 . T . . NT END=25549756;NT GT ./. 1 25424765 rs71014334 A AAC 8 sb,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=37;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,AAC:5:3:3:0:2,3:64,82:0.00,8.17:0.00,1.23:0.00,6.93:0.00,0.78:0.00,0.94:0.00,0.97:60,60:3.5,12.7:0,0:0,0:106,91:34,57:15,2:-,chr1 g.25424765_25424766insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 25432533 . AACAC A,AACACACAC 7 nt VT=INS;SST=Single;DP=4;PC=0.254 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:AACAC,AACACACAC,A:4:1:2:1:1,2,1:33,67,34:0.00,6.75,3.15:0.00,3.48,0.00:0.00,3.28,3.15:0.00,0.51,0.00:0.00,0.67,0.00:0.00,0.89,0.00:60,60,60:0.0,5.5,12.0:0,0,0:0,0,0:121,40,56:30,110,95:0,18,0:chr1 g.25432534_25432537delACAC (intergenic),chr1 g.25432534AC[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 25549923 . C . . NT END=25551492;NT GT ./. 1 25551592 . C . . NT END=25553932;NT GT ./. 1 25554024 . C . . NT END=25554608;NT GT ./. 1 25554727 . C . . NT END=25555488;NT GT ./. 1 25555615 . C . . NT END=25558594;NT GT ./. 1 25558703 . C . . NT END=25558934;NT GT ./. 1 25558959 . C . . NT END=25569079;NT GT ./. 1 25569197 . C . . NT END=25570040;NT GT ./. 1 25570550 rs5773124 A AT 184 idl,rn VT=INS;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.09145,AT/0.9085;DB;DBA=NA;PAF=A/0.09145,AT/0.9085;DB;DBA=NA;PAF=A/0.09145,AT/0.9085;NP=598;PC=0.003;Gene=RSRP1/NM_020317.3/1;CC=c.673-427_673-426insA;VC=Intron;DM=RSRP1/RSRP;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:79:54:61:5:17,57,5:511,1876,158:0.00,183.93,11.63:0.00,92.35,7.42:0.00,91.58,4.21:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:21.8,24.9,8.4:0,4,0:0,0,0:102,61,103:49,83,48:35,35,11:-,NM_020317.3(C1orf63) c.673-427_673-426insA:-,NOT_FOUND:-,NOT_FOUND 1 25571209 . t . . NT END=25571430;NT GT ./. 1 25571793 . C . . NT END=25572934;NT GT ./. 1 25572984 rs34484514 T G 278 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=T/0.9846,G/0.01538;PC=0.001;Gene=RSRP1/NM_020317.3/1;CC=c.471A>C;ProtCh=p.R157S;VC=Missense;DM=RSRP1/RSRP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:176:146:0:0:86,90:2903,2788:278.38,0.00:160.45,0.00:117.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,6.9:0,0:0,0:58,67:85,82:30,34:NM_020317.3(C1orf63) c.471A>C (p.Arg157Ser),-:0.02,-:0.028448,- 1 25573455 . C . . NT END=25599038;NT GT ./. 1 25598743 rs201089863 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,G:13:13:0:0:8,5:220,110:22.03,0.00:22.03,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:42,27:51.1,71.4:0,0:0,0:26,62:110,89:11,46:NM_016124.3(RHD) c.-58-u238G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 25598917 . C A 7 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;NP=3;PC=0.762 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:31:30:0:0:3,28:98,914:6.96,0.00:7.15,0.00:-0.20,0.00:0.42,0.00:0.88,0.00:0.51,0.00:27,52:50.7,12.7:0,0:0,0:7,69:144,74:3,37:NM_016124.3(RHD) c.-58-u64C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 25599187 . G . . NT END=25611063;NT GT ./. 1 25599204 rs586670 A C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.075;Gene=RHD/NM_001127691.2/0;CC=c.148+18A>C;VC=Intron;Gene=RHD/NM_001282867.1/0;CC=c.-347+18A>C;VC=Intron;Gene=RHD/NM_001282868.1/0;CC=c.148+18A>C;VC=Intron;Gene=RHD/NM_001282869.1/0;CC=c.148+18A>C;VC=Intron;Gene=RHD/NM_001282870.1/0;CC=c.148+18A>C;VC=Intron;Gene=RHD/NM_001282871.1/0;CC=c.148+18A>C;VC=Intron;Gene=RHD/NM_001282872.1/0;CC=c.148+18A>C;VC=Intron;Gene=RHD/NM_016124.4/1;CC=c.148+18A>C;VC=Intron;DM=RHD/Ammonium_transp;DM=RHD/Ammonium_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,C:63:22:0:0:55,8:1694,256:0.00,19.01:0.00,2.14:0.00,16.88:0.00,0.95:0.00,0.89:0.00,1.00:60,42:15.0,35.1:0,0:0,0:88,138:58,11:39,4:-,NM_016124.3(RHD) c.148+18A>C:-,0.07:-,NOT_FOUND 1 25611035 rs2301153 G C 479 nt VT=SNV;PN=C;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.3776,A/.,C/0.6224;Gene=RHD/NM_001127691.2/0;CC=c.149-29G>C;VC=Intron;Gene=RHD/NM_001282867.1/0;CC=c.-346-29G>C;VC=Intron;Gene=RHD/NM_001282868.1/0;CC=c.149-29G>C;VC=Intron;Gene=RHD/NM_001282869.1/0;CC=c.149-29G>C;VC=Intron;Gene=RHD/NM_001282870.1/0;CC=c.149-29G>C;VC=Intron;Gene=RHD/NM_001282871.1/0;CC=c.149-29G>C;VC=Intron;Gene=RHD/NM_001282872.1/0;CC=c.149-29G>C;VC=Intron;Gene=RHD/NM_016124.4/1;CC=c.149-29G>C;VC=Intron;DM=RHD/Ammonium_transp;DM=RHD/Ammonium_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:131:121:0:0:130,1:4179,11:479.26,0.10:363.66,0.10:115.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,122.0:0,0:0,0:45,61:102,90:24,0:NM_016124.3(RHD) c.149-29G>C,NM_016124.3(RHD) c.149-29G>C:0.62,0.62:0.562264,0.562264 1 25611251 . G . . NT END=25617131;NT GT ./. 1 25617283 . G . . NT END=25627436;NT GT ./. 1 25617399 rs28521909 T C 81 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1941,C/0.8059;PC=0.001;Gene=RHD/NM_001127691.2/0;CC=c.486+117T>C;VC=Intron;Gene=RHD/NM_001282867.1/0;CC=c.-9+117T>C;VC=Intron;Gene=RHD/NM_001282868.1/0;CC=c.486+117T>C;VC=Intron;Gene=RHD/NM_001282869.1/0;CC=c.486+117T>C;VC=Intron;Gene=RHD/NM_001282870.1/0;CC=c.486+117T>C;VC=Intron;Gene=RHD/NM_001282871.1/0;CC=c.486+117T>C;VC=Intron;Gene=RHD/NM_001282872.1/0;CC=c.486+117T>C;VC=Intron;Gene=RHD/NM_016124.4/1;CC=c.486+117T>C;VC=Intron;DM=RHD/Ammonium_transp;DM=RHD/Ammonium_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:1:0:0:21:708:80.81:2.04:78.77:1.00:1.00:1.00:60:73.5:0:0:99:52:33:NM_016124.3(RHD) c.486+117T>C,NM_016124.3(RHD) c.486+117T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 25617406 rs28562109 G A 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.1981,A/0.8019;PC=0.005;Gene=RHD/NM_001127691.2/0;CC=c.486+124G>A;VC=Intron;Gene=RHD/NM_001282867.1/0;CC=c.-9+124G>A;VC=Intron;Gene=RHD/NM_001282868.1/0;CC=c.486+124G>A;VC=Intron;Gene=RHD/NM_001282869.1/0;CC=c.486+124G>A;VC=Intron;Gene=RHD/NM_001282870.1/0;CC=c.486+124G>A;VC=Intron;Gene=RHD/NM_001282871.1/0;CC=c.486+124G>A;VC=Intron;Gene=RHD/NM_001282872.1/0;CC=c.486+124G>A;VC=Intron;Gene=RHD/NM_016124.4/1;CC=c.486+124G>A;VC=Intron;DM=RHD/Ammonium_transp;DM=RHD/Ammonium_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:0:0:0:22:690:79.41:0.00:79.41:1.00:0.00:1.00:60:78.7:0:0:100:51:27:NM_016124.3(RHD) c.486+124G>A,NM_016124.3(RHD) c.486+124G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 25627585 . G . . NT END=25628010;NT GT ./. 1 25628178 . G . . NT END=25629812;NT GT ./. 1 25629766 rs201798270 TTCTC T 162 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=TTCTC/0.97,T/0.02995;NP=343;Gene=RHD/NM_001127691.2/0;CC=c.802-41_802-38delCTCT;VC=Intron;Gene=RHD/NM_001282867.1/0;CC=c.304-41_304-38delCTCT;VC=Intron;Gene=RHD/NM_001282868.1/0;CC=c.802-41_802-38delCTCT;VC=Intron;Gene=RHD/NM_001282869.1/0;CC=c.802-41_802-38delCTCT;VC=Intron;Gene=RHD/NM_001282870.1/0;CC=c.802-41_802-38delCTCT;VC=Intron;Gene=RHD/NM_001282871.1/0;CC=c.802-41_802-38delCTCT;VC=Intron;Gene=RHD/NM_001282872.1/0;CC=c.802-41_802-38delCTCT;VC=Intron;Gene=RHD/NM_016124.4/1;CC=c.802-41_802-38delCTCT;VC=Intron;DM=RHD/Ammonium_transp;DM=RHD/Ammonium_transp;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:43:0:47:47:1401:162.44:141.44:21.00:1.00:1.00:1.00:43:9.1:0:0:66:85:30:NM_016124.3(RHD) c.802-46_802-43delTCTC,NM_016124.3(RHD) c.802-46_802-43delTCTC:0.03,0.03:0.085503,0.085503 1 25629951 . G . . NT END=25633086;NT GT ./. 1 25633221 . G . . NT END=25634137;NT GT ./. 1 25634143 rs2427766 T C 116 lc VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.8644,C/0.1356;Gene=RHD/NM_001127691.2/0;CC=c.939+4193T>C;VC=Intron;Gene=RHD/NM_001282867.1/0;CC=c.575+923T>C;VC=Intron;Gene=RHD/NM_001282868.1/0;CC=c.939+4193T>C;VC=Intron;Gene=RHD/NM_001282869.1/0;CC=c.1073+923T>C;VC=Intron;Gene=RHD/NM_001282870.1/0;CC=c.1073+923T>C;VC=Intron;Gene=RHD/NM_001282871.1/0;CC=c.1079T>C;ProtCh=p.L360P;VC=Missense;Gene=RHD/NM_001282872.1/0;CC=c.1079T>C;ProtCh=p.L360P;VC=Missense;Gene=RHD/NM_016124.4/1;CC=c.1073+923T>C;VC=Intron;DM=RHD/Ammonium_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:27:0:0:32:1004:115.62:86.71:28.91:1.00:1.00:1.00:53:36.9:0:0:48:101:33:NM_016124.3(RHD) c.1073+923T>C,NM_016124.3(RHD) c.1073+923T>C:0.14,0.14:NOT_FOUND,NOT_FOUND 1 25634308 . G . . NT END=25643490;NT GT ./. 1 25643571 . G . . NT END=25648379;NT GT ./. 1 25648454 . G . . NT END=25655388;NT GT ./. 1 25655628 . A . . NT END=25666977;NT GT ./. 1 25655728 rs71577756 G TT 7 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;PC=0.113;Gene=RHD/NM_001127691.2/0;CC=c.*312_*313insT;VC=3UTR;Gene=RHD/NM_001282867.1/0;CC=c.*312_*313insT;VC=3UTR;Gene=RHD/NM_001282868.1/0;CC=c.*221_*222insT;VC=3UTR;Gene=RHD/NM_001282869.1/0;CC=c.*221_*222insT;VC=3UTR;Gene=RHD/NM_001282870.1/0;CC=c.*100_*101insT;VC=3UTR;Gene=RHD/NM_001282871.1/0;CC=c.*100_*101insT;VC=3UTR;Gene=RHD/NM_001282872.1/0;CC=c.*366_*367insT;VC=3UTR;Gene=RHD/NM_016124.4/1;CC=c.*312_*313insT;VC=3UTR;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:G,TT:9:1:4:0:6,3:175,110:0.00,7.24:0.00,-0.16:0.00,7.39:0.00,0.62:0.00,0.53:0.00,0.94:60,70:25.2,51.0:0,1:0,0:128,60:22,91:6,27:-,NM_016124.3(RHD) c.*313delGinsTT:-,NOT_FOUND:-,NOT_FOUND 1 25667071 . G . . NT END=25669451;NT GT ./. 1 25669565 . G . . NT END=25678116;NT GT ./. 1 25678002 rs66744254 TA T 45 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=508;PC=0.936;Gene=TMEM50A/NM_014313.3/1;CC=c.207-101delA;VC=Intron;DM=TMEM50A/UPF0220;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:TA,T:14:18:0:18:1,13:32,524:0.00,45.11:0.00,45.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.0,31.9:0,4:0,0:15,45:136,106:0,31:NM_014313.3(TMEM50A) c.207-114delA,NM_014313.3(TMEM50A) c.207-114delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 25678185 . G . . NT END=25679372;NT GT ./. 1 25678238 rs3093616 T A 127 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.06729,A/0.9327;Gene=TMEM50A/NM_014313.3/1;CC=c.274+54T>A;VC=Intron;DM=TMEM50A/UPF0220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:12:0:0:34:1106:126.81:28.43:98.38:1.00:1.00:1.00:60:43.3:0:0:106:45:23:NM_014313.3(TMEM50A) c.274+54T>A,NM_014313.3(TMEM50A) c.274+54T>A:0.95,0.95:0.941305,0.941305 1 25679466 . G . . NT END=25683283;NT GT ./. 1 25683345 . G . . NT END=25687150;NT GT ./. 1 25684012 rs3093632 C T 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6647,T/0.3353;PC=0.843;Gene=TMEM50A/NM_014313.3/1;CC=c.428+668C>T;VC=Intron;DM=TMEM50A/UPF0220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,T:16:16:0:0:5,11:177,351:0.00,36.03:0.00,27.35:0.00,8.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.2,46.5:0,0:0,0:30,107:121,40:24,26:-,NM_014313.3(TMEM50A) c.428+668C>T:-,0.38:-,NOT_FOUND 1 25684019 . AGT A 8 rn VT=DEL;SST=Single;DP=15;NP=4;PC=0.415;Gene=TMEM50A/NM_014313.3/1;CC=c.428+708_428+709delGT;VC=Intron;DM=TMEM50A/UPF0220;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:AGT,I,A:15:15:2:3:10,2,3:280,67,101:0.00,5.29,8.47:0.00,5.38,5.49:0.00,-0.09,2.98:0.00,0.00,0.55:0.00,0.00,0.55:0.00,0.00,0.66:60,60,60:55.0,21.0,38.7:0,0,0:0,0,0:119,49,43:30,99,107:9,36,1:-,NM_014313.3(TMEM50A) c.428+676_428+677delGT:-,NOT_FOUND:-,NOT_FOUND 1 25687197 . A . . NT END=25688951;NT GT ./. 1 25687308 rs8876 C G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.985,G/0.01498;PC=1.000;Gene=TMEM50A/NM_014313.3/1;CC=c.*112C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:1:0:0:16,8:491,259:0.00,23.10:0.00,-0.09:0.00,23.19:0.00,0.99:0.00,0.56:0.00,0.99:60,60:6.6,42.8:0,0:0,0:117,111:33,40:19,37:-,NM_014313.3(TMEM50A) c.*112C>G:-,0.02:-,NOT_FOUND 1 25689045 . C . . NT END=25696957;NT GT ./. 1 25697032 . C . . NT END=25701839;NT GT ./. 1 25697212 rs71014358 C CTATTT 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6296,CTATTT/0.3421;DB;DBA=NA;PAF=C/0.6296,CTATTT/0.3421,CTATTTTATTT/0.005791;DB;DBA=NA;PAF=C/0.6296,CTATTT/0.3421;NP=153;NP=2;PC=0.142;Gene=RHCE/NM_020485.4/1;CC=c.1154-182_1154-181insAAATA;VC=Intron;Gene=RHCE/NM_138616.3/0;CC=c.701-182_701-181insAAATA;VC=Intron;Gene=RHCE/NM_138617.3/0;CC=c.759-182_759-181insAAATA;VC=Intron;Gene=RHCE/NM_138618.3/0;CC=c.1020-182_1020-181insAAATA;VC=Intron;DM=RHCE/Ammonium_transp;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,CTATTT,D:8:0:3:1:4,3,1:138,99,30:0.00,9.24,2.34:0.00,0.00,0.00:0.00,9.24,2.34:0.00,0.67,0.00:0.00,0.00,0.00:0.00,0.67,0.00:60,60,42:17.0,0.0,0.0:0,0,0:0,0,0:134,49,82:16,102,68:8,2,0:-,NM_020485.4(RHCE) c.1154-182_1154-181insAAATA:-,NOT_FOUND:-,NOT_FOUND 1 25701920 . C . . NT END=25712201;NT GT ./. 1 25712336 . C . . NT END=25715466;NT GT ./. 1 25715605 . C . . NT END=25717239;NT GT ./. 1 25717139 rs636889 C T 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.5557,T/0.4443;Gene=RHCE/NM_020485.4/1;CC=c.801+101G>A;VC=Intron;Gene=RHCE/NM_138616.3/0;CC=c.487-4804G>A;VC=Intron;Gene=RHCE/NM_138617.3/0;CC=c.487-1535G>A;VC=Intron;Gene=RHCE/NM_138618.3/0;CC=c.801+101G>A;VC=Intron;DM=RHCE/Ammonium_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:33:0:0:17,18:570,562:0.00,54.27:0.00,47.25:0.00,7.02:0.00,1.00:0.00,1.00:0.00,0.89:60,55:9.7,39.1:0,0:0,0:65,22:86,128:40,15:-,NM_020485.4(RHCE) c.801+101G>A:-,NOT_FOUND:-,NOT_FOUND 1 25717407 . C . . NT END=25718484;NT GT ./. 1 25718633 . C . . NT END=25729086;NT GT ./. 1 25728930 rs28631635 G T 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4712,T/0.5288;NP=979;PC=0.025;Gene=RHCE/NM_020485.4/1;CC=c.486+157C>A;VC=Intron;Gene=RHCE/NM_138616.3/0;CC=c.486+157C>A;VC=Intron;Gene=RHCE/NM_138617.3/0;CC=c.486+157C>A;VC=Intron;Gene=RHCE/NM_138618.3/0;CC=c.486+157C>A;VC=Intron;DM=RHCE/Ammonium_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:38:38:0:0:1,18,19:11,512,649:0.07,0.00,62.86:0.07,0.00,62.86:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:43,57,44:181.0,9.4,45.8:0,0,0:0,0,0:28,35,44:123,116,107:0,17,28:-,NM_020485.4(RHCE) c.486+157C>A:-,NOT_FOUND:-,NOT_FOUND 1 25729238 . C . . NT END=25735173;NT GT ./. 1 25735361 . C . . NT END=25747129;NT GT ./. 1 25747230 rs586178 G C 94 lc VT=SNV;PN=C;NN=C;SST=Single;DP=136;DB;DBA=in-clinvar;PAF=G/0.601,A/.,C/0.399;Gene=RHCE/NM_020485.4/1;CC=c.48C>G;ProtCh=p.C16W;VC=Missense;Gene=RHCE/NM_138616.3/0;CC=c.48C>G;ProtCh=p.C16W;VC=Missense;Gene=RHCE/NM_138617.3/0;CC=c.48C>G;ProtCh=p.C16W;VC=Missense;Gene=RHCE/NM_138618.3/0;CC=c.48C>G;ProtCh=p.C16W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:136:91:0:0:36,100:1114,3225:94.49,0.00:42.23,0.00:52.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:36.5,7.1:0,0:0,0:83,46:68,103:39,26:NM_020485.4(RHCE) c.=,-:0.34,-:NOT_FOUND,- 1 25747303 . T . . NT END=25757589;NT GT ./. 1 25747399 rs2072931 G T 127 nt VT=SNV;PN=T;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.6765,T/0.3235;PC=0.974 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:85:18:0:0:44,41:1484,1332:0.00,127.23:0.00,18.45:0.00,108.77:0.00,1.00:0.00,1.00:0.00,1.00:52,51:9.1,37.9:0,0:0,0:110,83:39,66:24,41:-,NM_020485.4(RHCE) c.-86-u36C>A:-,0.37:-,NOT_FOUND 1 25747646 rs74937936 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:7:0:0:0:4,3:140,78:13.85,0.00:0.00,0.00:13.85,0.00:0.90,0.00:0.00,0.00:0.90,0.00:51,50:74.5,8.0:0,0:0,0:67,74:83,77:14,14:NM_020485.4(RHCE) c.-86-u283C>T,-:0.41,-:NOT_FOUND,- 1 25747655 rs78103988 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:7:0:0:0:3,4:97,105:0.00,10.30:0.00,0.00:0.00,10.30:0.00,0.90:0.00,0.00:0.00,0.90:50,51:8.0,74.5:0,0:0,0:83,76:68,74:14,14:-,NM_020485.4(RHCE) c.-86-u292G>A:-,0.42:-,NOT_FOUND 1 25757670 . G . . NT END=25773252;NT GT ./. 1 25773395 . G . . NT END=25775298;NT GT ./. 1 25775426 . G . . NT END=25780749;NT GT ./. 1 25775682 rs12027110 A T 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6769,T/0.3231;Gene=TMEM57/NM_001282564.1/0;CC=c.349+257A>T;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.349+257A>T;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,T:9:0:0:0:5,4:156,123:0.00,11.52:0.00,0.00:0.00,11.52:0.00,0.85:0.00,0.00:0.00,0.85:60,60:32.6,30.8:0,0:0,0:44,123:107,27:30,15:-,NM_018202.4(TMEM57) c.349+257A>T:-,0.36:-,NOT_FOUND 1 25780668 rs34006994 C T 68 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.5036,T/0.4964;PC=0.063;Gene=TMEM57/NM_001282564.1/0;CC=c.350-82C>T;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.350-82C>T;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:34:0:0:20,21:654,703:0.00,67.98:0.00,51.99:0.00,16.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,36.0:0,0:0,0:58,33:90,106:36,22:-,NM_018202.4(TMEM57) c.350-82C>T:-,0.49:-,NOT_FOUND 1 25780874 . G . . NT END=25783143;NT GT ./. 1 25780889 rs141203814 A ATG 30 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=1;NP=1959;PC=0.017;Gene=TMEM57/NM_001282564.1/0;CC=c.473+19_473+20insGT;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.473+19_473+20insGT;VC=Intron;DM=TMEM57/Macoilin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATG:39:24:11:0:28,11:888,348:0.00,29.98:0.00,17.44:0.00,12.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,56.2:1,0:0,0:114,87:31,64:19,25:-,NM_018202.4(TMEM57) c.473+16_473+17insTG:-,NOT_FOUND:-,NOT_FOUND 1 25780893 rs61775167 A G 47 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5016,G/0.4984;NP=1;NP=14;NP=54;PC=0.001;Gene=TMEM57/NM_001282564.1/0;CC=c.473+20A>G;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.473+20A>G;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:38:22:0:0:22,15,1:701,511,12:0.00,47.41,0.08:0.00,28.18,-0.09:0.00,19.23,0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,43:1.8,47.7,128.0:0,11,1:0,0,0:113,113,41:36,33,88:15,20,0:-,NM_018202.4(TMEM57) c.473+20A>G:-,0.49:-,NOT_FOUND 1 25780929 rs146881778 ATGTG A 18 sb,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=143;PC=0.002;Gene=TMEM57/NM_001282564.1/0;CC=c.473+86_473+89delGTGT;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.473+86_473+89delGTGT;VC=Intron;DM=TMEM57/Macoilin;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:ATGTG,A:27:11:0:7:20,7:591,211:0.00,17.73:0.00,0.55:0.00,17.18:0.00,0.96:0.00,0.93:0.00,0.99:60,60:44.2,8.1:0,0:0,0:109,74:35,76:27,36:-,NM_018202.4(TMEM57) c.473+57_473+60delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 25780959 rs189679525 G A 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=TMEM57/NM_001282564.1/0;CC=c.473+86G>A;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.473+86G>A;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:6:0:1:7,12:220,316:19.93,0.00:5.70,0.00:14.23,0.00:0.98,0.00:0.92,0.00:0.99,0.00:60,60:91.3,20.2:0,1:0,0:99,106:24,42:30,32:NM_018202.4(TMEM57) c.473+86G>A,-:0.19,-:NOT_FOUND,- 1 25780961 rs78403041 G A 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=195;Gene=TMEM57/NM_001282564.1/0;CC=c.473+88G>A;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.473+88G>A;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,I:18:5:1:1:9,8,1:289,220,21:28.10,0.00,1.14:12.71,0.00,-0.02:15.38,0.00,1.17:1.00,0.00,0.00:0.96,0.00,0.00:1.00,0.00,0.00:60,60,60:80.8,19.4,0.0:0,0,0:0,0,0:109,91,18:20,59,132:28,41,0:NM_018202.4(TMEM57) c.473+88G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 25780979 rs371484743 A AT 11 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=5;PC=0.015;Gene=TMEM57/NM_001282564.1/0;CC=c.473+120_473+121insT;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.473+120_473+121insT;VC=Intron;DM=TMEM57/Macoilin;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,AT:12:2:4:3:8,4:232,128:0.00,11.40:0.00,-0.26:0.00,11.66:0.00,0.80:0.00,0.63:0.00,0.98:60,60:58.8,5.5:1,0:0,0:101,81:43,69:27,13:-,NM_018202.4(TMEM57) c.473+106_473+107insT:-,NOT_FOUND:-,NOT_FOUND 1 25783066 rs35497030 A G 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.529,G/0.471;Gene=TMEM57/NM_001282564.1/0;CC=c.473+2193A>G;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.474-78A>G;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:39:0:0:16,24:519,648:0.00,64.24:0.00,56.50:0.00,7.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,38.6:0,0:0,0:38,35:112,115:13,28:-,NM_018202.4(TMEM57) c.474-78A>G:-,0.46:-,NOT_FOUND 1 25783323 . G . . NT END=25784881;NT GT ./. 1 25784551 rs35403885 G A 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5034,A/0.4966;PC=0.033;Gene=TMEM57/NM_001282564.1/0;CC=c.473+3678G>A;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.653-331G>A;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:5:5:0:0:4,1:125,31:13.32,0.00:13.32,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:77.2,0.0:0,0:0,0:48,6:103,145:18,0:NM_018202.4(TMEM57) c.653-331G>A,-:0.49,-:NOT_FOUND,- 1 25785384 . G . . NT END=25810606;NT GT ./. 1 25785451 rs35530120 A G 105 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.5028,G/0.4972;Gene=TMEM57/NM_001282564.1/0;CC=c.473+4578A>G;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.1154+68A>G;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:14:0:0:31,32:972,1087:0.00,105.03:0.00,12.85:0.00,92.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,41.0:0,0:0,0:108,72:42,78:21,31:-,NM_018202.4(TMEM57) c.1154+68A>G:-,0.49:-,NOT_FOUND 1 25810416 rs61775192 A G 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4852,G/0.5148;PC=0.246;Gene=TMEM57/NM_001282564.1/0;CC=c.474-191A>G;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.1155-191A>G;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:16:16:0:0:6,10:174,328:0.00,33.00:0.00,33.00:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.5,36.1:0,0:0,0:30,51:119,99:25,29:-,NM_018202.4(TMEM57) c.1155-191A>G:-,0.5:-,NOT_FOUND 1 25810766 . G . . NT END=25812103;NT GT ./. 1 25810966 rs61775193 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.485,G/0.515;Gene=TMEM57/NM_001282564.1/0;CC=c.632+201A>G;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.1313+201A>G;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C,G:24:0:0:0:17,1,6:565,28,182:0.00,1.59,15.33:0.00,0.00,0.00:0.00,1.59,15.33:0.00,0.00,0.92:0.00,0.00,0.00:0.00,0.00,0.92:60,60,60:11.6,61.0,42.0:0,0,0:0,0,0:98,89,82:51,61,67:34,0,29:-,NM_018202.4(TMEM57) c.1313+201A>G:-,0.5:-,NOT_FOUND 1 25812287 . G . . NT END=25815663;NT GT ./. 1 25815785 . G . . NT END=25817836;NT GT ./. 1 25817705 rs35343405 C T 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.4077,T/0.5923;Gene=TMEM57/NM_001282564.1/0;CC=c.937-196C>T;VC=Intron;Gene=TMEM57/NM_018202.5/1;CC=c.1618-196C>T;VC=Intron;DM=TMEM57/Macoilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:11,13:317,402:0.00,39.19:0.00,39.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.3,36.9:0,0:0,0:51,56:94,95:29,24:-,NM_018202.4(TMEM57) c.1618-196C>T:-,0.57:-,NOT_FOUND 1 25818076 . G . . NT END=25824754;NT GT ./. 1 25824958 . A . . NT END=25870189;NT GT ./. 1 25870018 rs61776820 C G 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.005391,G/0.9946;NP=621;PC=0.141 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:26:0:0:26:765:88.84:88.84:0.00:1.00:1.00:0.00:60:50.4:0:0:44:106:20:NM_015627.2(LDLRAP1) c.-114-u58C>G,NM_015627.2(LDLRAP1) c.-114-u58C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 25870278 . G . . NT END=25880412;NT GT ./. 1 25880261 . CAA C 11 idl,rn VT=DEL;SST=Single;DP=20;Gene=LDLRAP1/NM_015627.2/1;CC=c.89-134_89-133delAA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:CAA,I,C:16:20:3:7:10,2,4:288,80,218:0.00,3.90,10.85:0.00,3.90,10.85:0.00,0.00,0.00:0.00,0.00,0.71:0.00,0.00,0.71:0.00,0.00,0.00:60,60,60:28.9,60.5,42.0:0,1,3:0,0,0:45,62,30:96,76,119:35,12,20:-,NM_015627.2(LDLRAP1) c.89-151_89-150delAA:-,NOT_FOUND:-,NOT_FOUND 1 25880556 . G . . NT END=25881350;NT GT ./. 1 25881464 . G . . NT END=25883643;NT GT ./. 1 25883759 . G . . NT END=25889134;NT GT ./. 1 25889208 . G . . NT END=25889560;NT GT ./. 1 25889342 rs398052861 CAG C 45 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=CAG/0.5653,C/0.4347;DB;DBA=NA;PAF=CAG/0.5653,C/0.4347;NP=1391;PC=0.001;Gene=LDLRAP1/NM_015627.2/1;CC=c.532+138_532+139delAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAG,C:21:7:0:14:7,14:245,438:0.00,44.66:0.00,4.92:0.00,39.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.1,20.9:0,0:0,0:94,82:57,68:38,32:-,NM_015627.2(LDLRAP1) c.532+136_532+137delAG:-,0.47:-,NOT_FOUND 1 25889422 rs12096438 C T 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5669,T/0.4331;Gene=LDLRAP1/NM_015627.2/1;CC=c.533-139C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:13:0:0:7,11:226,341:0.00,34.10:0.00,20.76:0.00,13.34:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,37.2:0,0:0,0:66,90:85,61:48,45:-,NM_015627.2(LDLRAP1) c.533-139C>T:-,0.47:-,NOT_FOUND 1 25889632 rs6687605 T C 96 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.5651,A/.,C/0.4349,G/.;Gene=LDLRAP1/NM_015627.2/1;CC=c.604T>C;ProtCh=p.S202P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:42:0:0:32,36:1015,1161:96.34,0.00:44.18,0.00:52.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.3,15.2:0,0:0,0:95,92:47,47:32,32:NM_015627.2(LDLRAP1) c.604T>C (p.Ser202Pro),-:0.46,-:0.469312,- 1 25889645 . G . . NT END=25890151;NT GT ./. 1 25889672 rs6688931 G A 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.5835,A/0.4165;PC=0.008;Gene=LDLRAP1/NM_015627.2/1;CC=c.616+28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:42:26:0:0:17,24,1:555,780,14:51.55,0.00,0.18:23.87,0.00,-0.09:27.69,0.00,0.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.3,13.9,128.0:0,0,0:0,0,0:125,110,122:25,29,27:13,28,0:NM_015627.2(LDLRAP1) c.616+28G>A,-:0.45,-:0.446692,- 1 25889917 rs6701596 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5489,C/0.4511;Gene=LDLRAP1/NM_015627.2/1;CC=c.617-235T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:C,T:13:10:0:0:5,8:156,213:14.25,0.00:11.81,0.00:2.44,0.00:0.91,0.00:0.98,0.00:0.79,0.00:60,60:54.6,14.4:0,0:0,0:26,112:125,38:8,23:NM_015627.2(LDLRAP1) c.617-235T>C,-:0.48,-:NOT_FOUND,- 1 25890050 rs6661159 A G 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.5607,G/0.4393;PC=0.025;Gene=LDLRAP1/NM_015627.2/1;CC=c.617-102A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:35:0:0:18,19:587,614:0.00,59.30:0.00,47.46:0.00,11.84:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.7,38.1:0,0:0,0:60,58:90,93:42,28:-,NM_015627.2(LDLRAP1) c.617-102A>G:-,0.47:-,NOT_FOUND 1 25890189 rs28969504 A G 119 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.4137,G/0.5863;Gene=LDLRAP1/NM_015627.2/1;CC=c.654A>G;ProtCh=p.T218=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:102:71:0:0:59,43:2040,1282:0.00,118.52:0.00,65.26:0.00,53.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,33.4:0,0:0,0:62,73:82,76:33,28:-,NM_015627.2(LDLRAP1) c.654A>G (p.(=)):-,0.59:-,0.63217 1 25890283 . G . . NT END=25891663;NT GT ./. 1 25891699 . G . . NT END=25893338;NT GT ./. 1 25893221 rs4523506 G T 61 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.4305,T/0.5695;Gene=LDLRAP1/NM_015627.2/1;CC=c.783-118G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:36:0:0:21,19:602,640:0.00,61.06:0.00,62.45:0.00,-1.40:0.00,1.00:0.00,1.00:0.00,0.97:60,60:16.7,104.8:0,0:0,0:35,31:116,120:29,10:-,NM_015627.2(LDLRAP1) c.783-118G>T:-,0.53:-,NOT_FOUND 1 25893242 rs4418583 T C 71 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.4119,C/0.5881;Gene=LDLRAP1/NM_015627.2/1;CC=c.783-97T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:46:41:0:0:1,22,23:19,736,714:0.57,70.56,0.00:0.64,65.21,0.00:-0.07,5.35,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:216.0,100.5,7.7:0,0,0:0,0,0:63,46,46:88,104,102:0,17,22:NM_015627.2(LDLRAP1) c.783-97T>C,-:0.52,-:NOT_FOUND,- 1 25893243 rs4603124 G A 72 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.5837,A/0.4163;Gene=LDLRAP1/NM_015627.2/1;CC=c.783-96G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:41:0:0:23,23:746,779:71.69,0.00:66.64,0.00:5.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:109.7,9.2:0,0:0,0:50,45:101,104:13,23:NM_015627.2(LDLRAP1) c.783-96G>A,-:0.37,-:NOT_FOUND,- 1 25893484 . G . . NT END=25944288;NT GT ./. 1 25944829 . G . . NT END=26012930;NT GT ./. 1 26013028 . G . . NT END=26073158;NT GT ./. 1 26073275 . G . . NT END=26075745;NT GT ./. 1 26073443 rs2786876 T C 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1084,C/0.8916;Gene=MAN1C1/NM_001289010.1/0;CC=c.753+169T>C;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.753+169T>C;VC=Intron;DM=MAN1C1/Glyco_hydro_47;DM=MAN1C1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:188:21.66:0.00:21.66:1.00:0.00:1.00:60:43.7:0:0:116:34:25:NM_020379.2(MAN1C1) c.753+169T>C,NM_020379.2(MAN1C1) c.753+169T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 26075827 . G . . NT END=26079974;NT GT ./. 1 26080070 . G . . NT END=26085082;NT GT ./. 1 26085048 rs398073844 AG A 239 rn VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=AG/0.09006,A/0.9099;DB;DBA=NA;PAF=AG/0.09006,A/0.9099;DB;DBA=NA;PAF=AG/0.09006,A/0.9099;NP=3245;PC=0.001;Gene=MAN1C1/NM_001289010.1/0;CC=c.930-29delG;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.930-29delG;VC=Intron;DM=MAN1C1/Glyco_hydro_47;DM=MAN1C1/Glyco_hydro_47;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:111:AG,A:71:61:0:68:3,68:78,2119:0.00,238.95:0.00,163.07:0.00,75.88:0.00,1.00:0.00,1.00:0.00,1.00:60,70:18.0,8.1:0,0:0,0:143,39:6,105:5,18:NM_020379.2(MAN1C1) c.930-34delG,NM_020379.2(MAN1C1) c.930-34delG:0.9,0.9:NOT_FOUND,NOT_FOUND 1 26085201 . G . . NT END=26090364;NT GT ./. 1 26090459 . G . . NT END=26098147;NT GT ./. 1 26098107 rs2072747 G A 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.401,A/0.599;Gene=MAN1C1/NM_001289010.1/0;CC=c.1142-41G>A;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1142-41G>A;VC=Intron;DM=MAN1C1/Glyco_hydro_47;DM=MAN1C1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:25:0:0:29:884:102.11:76.36:25.75:1.00:1.00:1.00:60:41.7:0:0:37:113:23:NM_020379.2(MAN1C1) c.1142-41G>A,NM_020379.2(MAN1C1) c.1142-41G>A:0.6,0.6:0.562673,0.562673 1 26098264 . G . . NT END=26104595;NT GT ./. 1 26098333 rs807264 G A 68 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.1152,A/0.8848;Gene=MAN1C1/NM_001289010.1/0;CC=c.1257+70G>A;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1257+70G>A;VC=Intron;DM=MAN1C1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:A,C:19:4:0:0:18,1:594,10:67.54,0.38:7.46,0.38:60.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.1,10.0:0,0:0,0:98,147:51,4:39,0:NM_020379.2(MAN1C1) c.1257+70G>A,NM_020379.2(MAN1C1) c.1257+70G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 26104816 . G . . NT END=26107430;NT GT ./. 1 26107321 rs807274 A C 72 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.09125,C/0.9087;PC=0.001;Gene=MAN1C1/NM_001289010.1/0;CC=c.1478-110A>C;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1478-110A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:40:0:0:17,23:542,726:0.00,71.73:0.00,68.70:0.00,3.03:0.00,1.00:0.00,1.00:0.00,0.98:60,60:10.4,41.3:0,0:0,0:59,46:92,104:29,25:-,NM_020379.2(MAN1C1) c.1478-110A>C:-,0.9:-,NOT_FOUND 1 26107604 . G . . NT END=26109075;NT GT ./. 1 26107688 rs807273 C A 72 nt VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.1294,A/0.8706;Gene=MAN1C1/NM_001289010.1/0;CC=c.1650+85C>A;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1650+85C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:60:15:0:0:24,36:782,1144:72.13,0.00:6.93,0.00:65.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,5.1:0,0:0,0:99,111:52,40:23,19:NM_020379.2(MAN1C1) c.1650+85C>A,-:0.87,-:NOT_FOUND,- 1 26109192 . G . . NT END=26110153;NT GT ./. 1 26109237 rs12567324 A G 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.3664,G/0.6336;PC=0.247;Gene=MAN1C1/NM_001289010.1/0;CC=c.1766+46A>G;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1766+46A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:8:0:0:22,17:715,557:0.00,52.22:0.00,6.26:0.00,45.96:0.00,1.00:0.00,0.98:0.00,1.00:60,60:10.1,49.2:0,0:0,0:100,108:51,42:29,30:-,NM_020379.2(MAN1C1) c.1766+46A>G:-,0.63:-,0.594894 1 26109307 rs2072746 G C 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.3662,C/0.6338;Gene=MAN1C1/NM_001289010.1/0;CC=c.1766+116G>C;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1766+116G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:0:0:0:9,9:292,302:28.05,0.00:0.00,0.00:28.05,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:76.1,2.0:0,0:0,0:92,109:59,42:31,21:NM_020379.2(MAN1C1) c.1766+116G>C,-:0.63,-:NOT_FOUND,- 1 26110065 rs3820514 A G 59 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.4171,G/0.5829;PC=0.002;Gene=MAN1C1/NM_001289010.1/0;CC=c.1767-270A>G;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1767-89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:41:0:0:25,19:826,629:0.00,58.90:0.00,48.13:0.00,10.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,77.2:0,0:0,0:49,30:100,121:29,24:-,NM_020379.2(MAN1C1) c.1767-89A>G:-,0.59:-,NOT_FOUND 1 26110143 rs3767877 G A 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.3578,A/0.6422;Gene=MAN1C1/NM_001289010.1/0;CC=c.1767-192G>A;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.1767-11G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:66:0:0:31,47:942,1439:86.23,0.00:57.48,0.00:28.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.7,6.8:0,0:0,0:78,63:68,80:22,34:NM_020379.2(MAN1C1) c.1767-11G>A,-:0.64,-:0.60549,- 1 26110281 . C . . NT END=26126721;NT GT ./. 1 26110298 rs116631146 G A 136 nt VT=SNV;PN=C;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.9748,A/0.02516,C/.;Gene=MAN1C1/NM_001289010.1/0;CC=c.1767-37G>A;VC=Intron;Gene=MAN1C1/NM_020379.3/1;CC=c.*18G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:52:0:0:45,44:1409,1442:135.50,0.00:65.49,0.00:70.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,10.7:0,0:0,0:86,80:58,70:30,30:NM_020379.2(MAN1C1) c.*18G>A,-:0.03,-:0.066656,- 1 26123587 rs71577800 A ATG 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3806,ATG/.,ATGTG/0.6194,ATGTGTG/.;NP=22;NP=31;PC=0.123;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,ATG:4:5:3:0:2,2:67,99:0.00,6.31:0.00,3.10:0.00,3.22:0.00,0.46:0.00,0.46:0.00,0.80:60,60:21.0,65.0:0,1:0,0:74,40:77,106:48,18:-,NM_020451.2(SEPN1) c.-55-u3080_-55-u3079insTG:-,NOT_FOUND:-,NOT_FOUND 1 26126680 rs12121707 T C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=76;Gene=SEPN1/NM_020451.2/1;CC=c.-42T>C;VC=5UTR;Gene=SEPN1/NM_206926.1/0;CC=c.-42T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:158:18.18:14.31:3.88:1.00:1.00:1.00:60:40.2:0:0:18:133:1:NM_020451.2(SEPN1) c.-42T>C,NM_020451.2(SEPN1) c.-42T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 26126905 . G . . NT END=26127533;NT GT ./. 1 26127020 rs13373825 G A 90 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1246,A/0.8754;Gene=SEPN1/NM_020451.2/1;CC=c.183+116G>A;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.183+116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:1:0:0:25:778:89.71:3.88:85.83:1.00:1.00:1.00:60:59.4:0:0:124:27:12:NM_020451.2(SEPN1) c.183+116G>A,NM_020451.2(SEPN1) c.183+116G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 26127202 rs6676342 T G 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1236,G/0.8764;Gene=SEPN1/NM_020451.2/1;CC=c.183+298T>G;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.183+298T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:177:20.52:3.88:16.64:1.00:1.00:1.00:60:104.2:0:0:70:81:6:NM_020451.2(SEPN1) c.183+298T>G,NM_020451.2(SEPN1) c.183+298T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 26127203 rs6676343 T C 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1236,C/0.8764;Gene=SEPN1/NM_020451.2/1;CC=c.183+299T>C;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.183+299T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:196:22.46:2.57:19.88:1.00:1.00:1.00:60:104.2:0:0:71:80:6:NM_020451.2(SEPN1) c.183+299T>C,NM_020451.2(SEPN1) c.183+299T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 26127425 rs6659086 G A 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3105,A/0.6895;Gene=SEPN1/NM_020451.2/1;CC=c.184-109G>A;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.184-109G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:10,12:287,407:26.87,0.00:26.87,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.0,0.0:0,0:0,0:44,35:105,115:41,29:NM_020451.2(SEPN1) c.184-109G>A,-:0.64,-:NOT_FOUND,- 1 26127652 . G . . NT END=26131632;NT GT ./. 1 26131459 rs11247735 G A 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4237,A/0.5763;PC=0.004;Gene=SEPN1/NM_020451.2/1;CC=c.404-174G>A;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.302-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:27:0:0:18,10:503,343:50.75,0.00:47.66,0.00:3.08,0.00:1.00,0.00:1.00,0.00:0.76,0.00:60,60:56.7,3.4:0,0:0,0:42,67:107,83:24,16:NM_020451.2(SEPN1) c.404-174G>A,-:0.55,-:NOT_FOUND,- 1 26131654 rs7349185 G A 364 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=100;DB;DBA=in-clinvar;PAF=G/0.1581,A/0.8419;PC=0.474;Gene=SEPN1/NM_020451.2/1;CC=c.425G>A;ProtCh=p.C142Y;VC=Missense;Gene=SEPN1/NM_206926.1/0;CC=c.323G>A;ProtCh=p.C108Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:100:72:0:0:100:3163:363.88:188.15:175.73:1.00:1.00:1.00:60:40.7:0:0:70:78:30:NM_020451.2(SEPN1) c.425G>A (p.Cys142Tyr),NM_020451.2(SEPN1) c.425G>A (p.Cys142Tyr):0.83,0.83:NOT_FOUND,NOT_FOUND 1 26131767 . G . . NT END=26135070;NT GT ./. 1 26134926 rs4659382 C G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8169,G/0.1831;Gene=SEPN1/NM_020451.2/1;CC=c.538-145C>G;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.436-145C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:25:0:0:13,12:389,360:0.00,34.19:0.00,34.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.5,48.7:0,0:0,0:55,36:96,114:29,22:-,NM_020451.2(SEPN1) c.538-145C>G:-,0.24:-,NOT_FOUND 1 26135281 . G . . NT END=26135516;NT GT ./. 1 26135642 . G . . NT END=26136173;NT GT ./. 1 26135741 rs2280997 C G 90 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.8217,G/0.1783;Gene=SEPN1/NM_020451.2/1;CC=c.872+100C>G;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.770+100C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:7:0:0:13,28:425,877:0.00,89.91:0.00,5.43:0.00,84.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,52.6:0,0:0,0:59,92:92,59:39,23:-,NM_020451.2(SEPN1) c.872+100C>G:-,0.23:-,NOT_FOUND 1 26135913 rs7542128 T C 53 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.115,A/.,C/0.885;Gene=SEPN1/NM_020451.2/1;CC=c.873-261T>C;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.771-261T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:9:0:0:14:462:52.88:34.79:18.08:1.00:1.00:1.00:60:40.9:0:0:70:80:17:NM_020451.2(SEPN1) c.873-261T>C,NM_020451.2(SEPN1) c.873-261T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 26136312 . G . . NT END=26137944;NT GT ./. 1 26136452 rs6686366 A C 63 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=SEPN1/NM_020451.2/1;CC=c.1010+141A>C;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.908+141A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:20:0:0:0:20:534:62.53:0.00:62.53:1.00:0.00:1.00:60:37.5:0:0:118:32:14:NM_020451.2(SEPN1) c.1010+141A>C,NM_020451.2(SEPN1) c.1010+141A>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 26138027 . G . . NT END=26138181;NT GT ./. 1 26138136 rs760598 C A 241 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.253,A/0.747;PC=0.038;Gene=SEPN1/NM_020451.2/1;CC=c.1093-46C>A;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.991-46C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:69:43:0:0:69:2081:240.79:134.95:105.85:1.00:1.00:1.00:60:46.7:0:0:54:95:35:NM_020451.2(SEPN1) c.1093-46C>A,NM_020451.2(SEPN1) c.1093-46C>A:0.75,0.75:0.684802,0.684802 1 26138262 rs760597 T C 398 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=111;DB;DBA=in-clinvar;PAF=T/0.2081,C/0.7919,G/.;PC=0.964;Gene=SEPN1/NM_020451.2/1;CC=c.1173T>C;ProtCh=p.P391=;VC=Silent;Gene=SEPN1/NM_206926.1/0;CC=c.1071T>C;ProtCh=p.P357=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:111:78:0:0:110,1:3484,20:398.15,0.00:217.51,0.00:180.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,0.0:0,0:0,0:46,46:100,59:33,0:NM_020451.2(SEPN1) c.1173T>C (p.(=)),NM_020451.2(SEPN1) c.1173T>C (p.(=)):0.79,0.79:0.737172,0.737172 1 26138371 . G . . NT END=26139177;NT GT ./. 1 26138451 rs11247744 A G 185 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.2081,G/0.7919;Gene=SEPN1/NM_020451.2/1;CC=c.1281+81A>G;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1179+81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:C,G:51:4:0:0:1,50:9,1620:0.15,185.25:0.00,12.54:0.15,172.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:145.0,39.2:0,0:0,0:125,88:26,61:0,41:NM_020451.2(SEPN1) c.1281+81A>G,NM_020451.2(SEPN1) c.1281+81A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 26138961 rs45534132 C CAT 30 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3097,CAT/0.6903;DB;DBA=NA;PAF=NA;NP=4;Gene=SEPN1/NM_020451.2/1;CC=c.1282-216_1282-215insTA;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1180-216_1180-215insTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,CAT:12:12:9:0:3,9:62,290:0.00,30.41:0.00,29.08:0.00,1.33:0.00,1.00:0.00,1.00:0.00,0.83:60,60:29.3,69.9:0,0:0,0:32,47:119,103:32,27:-,NM_020451.2(SEPN1) c.1282-217_1282-216insAT:-,NOT_FOUND:-,NOT_FOUND 1 26138965 rs35501181 T C 29 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2588,C/0.7412;NP=11;Gene=SEPN1/NM_020451.2/1;CC=c.1282-213T>C;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1180-213T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:C,G,T:10:10:0:0:8,1,1:271,11,32:29.44,0.60,0.00:29.44,0.60,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:73.1,88.0,0.0:7,0,0:0,0,0:46,36,4:104,115,146:22,0,0:NM_020451.2(SEPN1) c.1282-213T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 26138971 rs397813283 C T,CAT 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2606,T/0.7394;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:T,CAT:10:11:2:0:9,1:300,57:33.51,1.94:31.66,1.94:1.84,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:68.7,88.0:0,1:0,0:45,26:105,124:18,16:NM_020451.2(SEPN1) c.1282-207C>T,NM_020451.2(SEPN1) c.1282-207_1282-206insAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 26139055 . AACACACAC A 26 idl,nt VT=DEL;SST=Single;DP=19;NP=3;Gene=SEPN1/NM_020451.2/1;CC=c.1282-88_1282-81delACACACAC;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1180-88_1180-81delACACACAC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AACACACAC,A:15:17:0:12:7,8:200,391:0.00,25.57:0.00,23.01:0.00,2.56:0.00,0.99:0.00,1.00:0.00,0.82:60,60:71.3,64.4:0,4:0,0:129,52:21,91:13,31:-,NM_020451.2(SEPN1) c.1282-122_1282-115delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 26139137 rs10902685 C T 149 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.3023,T/0.6977;Gene=SEPN1/NM_020451.2/1;CC=c.1282-41C>T;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1180-41C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:T:42:35:0:0:42:1294:149.25:111.08:38.17:1.00:1.00:1.00:60:52.8:0:0:55:96:23:NM_020451.2(SEPN1) c.1282-41C>T,NM_020451.2(SEPN1) c.1282-41C>T:0.71,0.71:0.63714,0.63714 1 26139284 . G . . NT END=26140371;NT GT ./. 1 26139392 rs3738451 A G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2047,G/0.7953;Gene=SEPN1/NM_020451.2/1;CC=c.1387+109A>G;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1285+109A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:0:0:0:15:452:52.32:0.00:52.32:1.00:0.00:1.00:60:46.7:0:0:104:47:24:NM_020451.2(SEPN1) c.1387+109A>G,NM_020451.2(SEPN1) c.1387+109A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 26139444 rs10751726 G A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3053,A/0.6947;PC=0.001;Gene=SEPN1/NM_020451.2/1;CC=c.1387+161G>A;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1285+161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:1:0:0:8:177:21.32:3.38:17.95:1.00:1.00:1.00:60:53.9:0:0:119:31:19:NM_020451.2(SEPN1) c.1387+161G>A,NM_020451.2(SEPN1) c.1387+161G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 26140485 . G . . NT END=26140567;NT GT ./. 1 26140573 rs2294228 C A 260 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=76;DB;DBA=in-clinvar;PAF=C/0.3025,A/0.6975;PC=0.017;Gene=SEPN1/NM_020451.2/1;CC=c.1506C>A;ProtCh=p.N502K;VC=Missense;Gene=SEPN1/NM_206926.1/0;CC=c.1404C>A;ProtCh=p.N468K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:76:39:0:0:74,1,1:2267,10,8:259.73,0.00,0.07:97.34,0.00,0.08:162.39,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,89.0,59.0:0,0,0:0,0,0:79,67,88:71,84,35:36,0,0:NM_020451.2(SEPN1) c.1506C>A (p.Asn502Lys),NM_020451.2(SEPN1) c.1506C>A (p.Asn502Lys):0.71,0.71:0.63195,0.63195 1 26140670 . G . . NT END=26142038;NT GT ./. 1 26141803 rs12121793 G T 26 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2915,T/0.7085;Gene=SEPN1/NM_020451.2/1;CC=c.1603-236G>T;VC=Intron;Gene=SEPN1/NM_206926.1/0;CC=c.1501-236G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:221:25.85:23.91:1.94:1.00:1.00:1.00:60:63.4:0:0:40:110:26:NM_020451.2(SEPN1) c.1603-236G>T,NM_020451.2(SEPN1) c.1603-236G>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 26142210 . A . . NT END=26149519;NT GT ./. 1 26149356 rs3033467 GCT G 38 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=GCT/0.1635,G/0.8365;NP=1028;PC=0.002;Gene=MTFR1L/NM_001099625.1/1;CC=c.-86-153_-86-152delCT;VC=Intron;Gene=MTFR1L/NM_001099627.1/0;CC=c.-86-153_-86-152delCT;VC=Intron;Gene=LOC646471/NR_024498.1/0;VC=NonCoding;Gene=MTFR1L/NM_019557.5/0;CC=c.-86-153_-86-152delCT;VC=Intron;Gene=MTFR1L/NM_001099626.1/0;CC=c.-86-153_-86-152delCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:10:0:11:11:326:37.84:33.96:3.88:1.00:1.00:1.00:60:12.4:0:0:52:96:20:NR_024498.1(LOC646471) n.740_741delAG,NR_024498.1(LOC646471) n.740_741delAG:0.83,0.83:NOT_FOUND,NOT_FOUND 1 26149620 . G . . NT END=26150111;NT GT ./. 1 26150023 rs11247758 C T 160 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.2432,T/0.7568;Gene=MTFR1L/NM_001099625.1/1;CC=c.25-112C>T;VC=Intron;Gene=MTFR1L/NM_001099627.1/0;CC=c.25-112C>T;VC=Intron;Gene=LOC646471/NR_024498.1/0;VC=NonCoding;Gene=MTFR1L/NM_019557.5/0;CC=c.25-112C>T;VC=Intron;Gene=MTFR1L/NM_001099626.1/0;CC=c.25-112C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:G,T:44:39:0:0:1,43:8,1400:0.13,160.01:0.13,122.24:0.00,37.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,41.8:0,0:0,0:143,36:8,114:0,29:NR_024498.1(LOC646471) n.75G>A,NR_024498.1(LOC646471) n.75G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 26150240 . G . . NT END=26152792;NT GT ./. 1 26152666 rs6598923 T C 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1601,C/0.8399;Gene=MTFR1L/NM_001099625.1/1;CC=c.130-127T>C;VC=Intron;Gene=MTFR1L/NM_001099627.1/0;CC=c.130-127T>C;VC=Intron;Gene=MTFR1L/NM_019557.5/0;CC=c.130-127T>C;VC=Intron;Gene=MTFR1L/NM_001099626.1/0;CC=c.130-127T>C;VC=Intron;DM=MTFR1L/Mito_fiss_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:21:0:0:21:613:71.24:71.24:0.00:1.00:1.00:0.00:60:57.6:0:0:29:122:27:NM_019557.5(FAM54B) c.130-127T>C,NM_019557.5(FAM54B) c.130-127T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 26152758 rs6598924 A G 194 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.1378,G/0.8622;Gene=MTFR1L/NM_001099625.1/1;CC=c.130-35A>G;VC=Intron;Gene=MTFR1L/NM_001099627.1/0;CC=c.130-35A>G;VC=Intron;Gene=MTFR1L/NM_019557.5/0;CC=c.130-35A>G;VC=Intron;Gene=MTFR1L/NM_001099626.1/0;CC=c.130-35A>G;VC=Intron;DM=MTFR1L/Mito_fiss_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G,T:54:45:0:0:53,1:1693,11:194.13,0.22:128.81,0.22:65.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,84.0:0,0:0,0:36,68:113,83:19,0:NM_019557.5(FAM54B) c.130-35A>G,NM_019557.5(FAM54B) c.130-35A>G:0.86,0.86:0.803453,0.803453 1 26152903 . G . . NT END=26153105;NT GT ./. 1 26153318 . G . . NT END=26155999;NT GT ./. 1 26155674 rs6669882 T A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1378,A/0.8622;PC=0.008;Gene=MTFR1L/NM_001099625.1/1;CC=c.452-326T>A;VC=Intron;Gene=MTFR1L/NM_001099627.1/0;CC=c.452-435T>A;VC=Intron;Gene=MTFR1L/NM_019557.5/0;CC=c.452-326T>A;VC=Intron;Gene=MTFR1L/NM_001099626.1/0;CC=c.452-326T>A;VC=Intron;DM=MTFR1L/Mito_fiss_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:119:13.81:13.81:0.00:1.00:1.00:0.00:60:108.0:0:0:43:92:7:NM_019557.5(FAM54B) c.452-326T>A,NM_019557.5(FAM54B) c.452-326T>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 26155806 rs6664610 C T 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2037,T/0.7963;Gene=MTFR1L/NM_001099625.1/1;CC=c.452-194C>T;VC=Intron;Gene=MTFR1L/NM_001099627.1/0;CC=c.452-303C>T;VC=Intron;Gene=MTFR1L/NM_019557.5/0;CC=c.452-194C>T;VC=Intron;Gene=MTFR1L/NM_001099626.1/0;CC=c.452-194C>T;VC=Intron;DM=MTFR1L/Mito_fiss_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:330:38.17:38.17:0.00:1.00:1.00:0.00:60:33.7:0:0:83:68:36:NM_019557.5(FAM54B) c.452-194C>T,NM_019557.5(FAM54B) c.452-194C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 26156322 . G . . NT END=26158411;NT GT ./. 1 26158337 rs1961580 C T 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.1378,T/0.8622;PC=0.011;Gene=MTFR1L/NM_001099625.1/1;CC=c.774-75C>T;VC=Intron;Gene=MTFR1L/NM_001099627.1/0;CC=c.*47-75C>T;VC=Intron;Gene=MTFR1L/NM_019557.5/0;CC=c.774-75C>T;VC=Intron;Gene=MTFR1L/NM_001099626.1/0;CC=c.774-75C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:24:0:0:24:785:89.94:82.44:7.50:1.00:1.00:1.00:60:39.1:0:0:40:111:19:NM_019557.5(FAM54B) c.774-75C>T,NM_019557.5(FAM54B) c.774-75C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 26158518 . C . . NT END=26158578;NT GT ./. 1 26158650 . C . . NT END=26160496;NT GT ./. 1 26160846 . c . . NT END=26161104;NT GT ./. 1 26161037 rs7555012 G C 102 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.1629,C/0.8371;PC=0.012;Gene=AUNIP/NM_001287490.1/1;CC=c.1045+476C>G;VC=Intron;Gene=AUNIP/NM_024037.2/0;CC=c.*447C>G;VC=3UTR;DM=AUNIP/AIB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A,C:28:19:0:0:1,27:8,891:0.19,101.51:0.00,67.89:0.19,33.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:143.0,67.8:0,0:0,0:43,75:101,76:0,35:NM_024037.1(AUNIP) c.=,NM_024037.1(AUNIP) c.=:0.83,0.83:NOT_FOUND,NOT_FOUND 1 26161086 rs11247767 A G 91 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.1625,G/0.8375;Gene=AUNIP/NM_001287490.1/1;CC=c.1045+427T>C;VC=Intron;Gene=AUNIP/NM_024037.2/0;CC=c.*398T>C;VC=3UTR;DM=AUNIP/AIB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A,G:31:23:0:0:1,30:9,787:0.00,91.15:0.00,68.68:0.00,22.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.0,71.7:0,0:0,0:34,67:115,82:0,40:NM_024037.1(AUNIP) c.=,NM_024037.1(AUNIP) c.=:0.82,0.82:NOT_FOUND,NOT_FOUND 1 26161106 rs537312036 CAA C 45 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=CAA/0.1416,C/0.8584;DB;DBA=NA;PAF=NA;NP=17;Gene=AUNIP/NM_001287490.1/1;CC=c.1045+405_1045+406delTT;VC=Intron;Gene=AUNIP/NM_024037.2/0;CC=c.*376_*377delTT;VC=3UTR;DM=AUNIP/AIB;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,C:23:25:0:27:8,15:246,675:0.00,45.12:0.00,39.30:0.00,5.82:0.00,1.00:0.00,1.00:0.00,0.99:60,60:81.9,86.8:0,8:0,0:136,55:14,92:7,29:-,NM_024037.1(AUNIP) c.*359T[17]:-,NOT_FOUND:-,NOT_FOUND 1 26162338 . C . . NT END=26163903;NT GT ./. 1 26164046 . C . . NT END=26185770;NT GT ./. 1 26185849 . G . . NT END=26189289;NT GT ./. 1 26190331 . G . . NT END=26219004;NT GT ./. 1 26218828 rs3129533 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3716,T/0.6284;Gene=STMN1/NM_001145454.2/1;CC=c.379-6468G>A;VC=Intron;DM=STMN1/Stathmin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:4:0:0:1,3:33,94:0.00,9.85:0.00,9.85:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:69.0,81.0:0,0:0,0:46,5:104,146:0,5:-,NM_001145454.1(STMN1) c.379-6468G>A:-,0.59:-,NOT_FOUND 1 26218871 rs35541438 CT C 9 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.002;Gene=STMN1/NM_001145454.2/1;CC=c.379-6512delA;VC=Intron;DM=STMN1/Stathmin;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CT,I,C:10:10:1:3:6,1,3:198,32,98:0.00,2.40,8.73:0.00,2.40,8.73:0.00,0.00,0.00:0.00,0.00,0.62:0.00,0.00,0.62:0.00,0.00,0.00:60,60,60:99.8,35.0,20.7:0,0,0:0,0,0:37,5,12:112,146,136:21,0,10:-,NM_001145454.1(STMN1) c.379-6512delA:-,NOT_FOUND:-,NOT_FOUND 1 26219099 . G . . NT END=26226606;NT GT ./. 1 26227579 . C . . NT END=26227981;NT GT ./. 1 26227608 rs58316569 CA C 22 idl,rn VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=1;PC=0.967;Gene=STMN1/NM_001145454.2/1;CC=c.378+373delT;VC=Intron;Gene=STMN1/NM_203401.1/0;CC=c.379-31delT;VC=Intron;Gene=STMN1/NM_005563.3/0;CC=c.379-31delT;VC=Intron;Gene=STMN1/NM_203399.1/0;CC=c.379-31delT;VC=Intron;DM=STMN1/Stathmin;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,CA,I,C:69:49:2:37:12,47,1,9:198,1393,67,550:12.64,0.00,1.72,21.52:-2.09,0.00,1.80,19.44:14.73,0.00,-0.09,2.08:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.96:60,60,60,60:132.2,25.2,37.0,112.4:1,1,1,11:0,0,0,0:89,117,43,84:61,24,107,58:18,21,29,18:-,NM_001145454.1(STMN1) c.378+373delT:-,NOT_FOUND:-,NOT_FOUND 1 26228174 . C . . NT END=26230131;NT GT ./. 1 26228409 rs159531 A G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1677,G/0.8323;Gene=STMN1/NM_001145454.2/1;CC=c.187-236T>C;VC=Intron;Gene=STMN1/NM_203401.1/0;CC=c.187-236T>C;VC=Intron;Gene=STMN1/NM_005563.3/0;CC=c.187-236T>C;VC=Intron;Gene=STMN1/NM_203399.1/0;CC=c.187-236T>C;VC=Intron;DM=STMN1/Stathmin;DM=STMN1/Stathmin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,G:15:1:0:0:10,5:313,173:0.00,15.54:0.00,-0.18:0.00,15.72:0.00,0.89:0.00,0.56:0.00,0.99:60,60:17.3,40.6:0,0:0,0:43,99:107,51:35,44:-,NM_001145454.1(STMN1) c.187-236T>C:-,0.78:-,NOT_FOUND 1 26230305 . C . . NT END=26231154;NT GT ./. 1 26231230 . C . . NT END=26288479;NT GT ./. 1 26288575 . C . . NT END=26299048;NT GT ./. 1 26299204 . C . . NT END=26300970;NT GT ./. 1 26301142 . C . . NT END=26303172;NT GT ./. 1 26303265 . C . . NT END=26308854;NT GT ./. 1 26303550 rs11247837 G C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4716,C/0.5284;PC=0.112;Gene=PAFAH2/NM_000437.3/1;CC=c.667-286C>G;VC=Intron;DM=PAFAH2/PAF-AH_p_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:5:0:0:0:3,2:107,68:10.67,0.00:0.00,0.00:10.67,0.00:0.78,0.00:0.00,0.00:0.78,0.00:44,60:62.7,21.5:0,0:0,0:77,94:57,56:17,47:NM_000437.3(PAFAH2) c.667-286C>G,-:0.56,-:NOT_FOUND,- 1 26308969 . C . . NT END=26310436;NT GT ./. 1 26309193 rs1469512 A C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4513,C/0.5487;Gene=PAFAH2/NM_000437.3/1;CC=c.553-225T>G;VC=Intron;DM=PAFAH2/PAF-AH_p_II;DM=PAFAH2/PAF-AH_p_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:A,C:11:0:0:0:6,5:180,149:0.00,13.97:0.00,0.00:0.00,13.97:0.00,0.93:0.00,0.00:0.00,0.93:60,60:29.2,60.8:0,0:0,0:94,64:57,87:45,29:-,NM_000437.3(PAFAH2) c.553-225T>G:-,0.58:-,NOT_FOUND 1 26310213 rs2275101 T C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4722,C/0.5278,G/.;Gene=PAFAH2/NM_000437.3/1;CC=c.552+224A>G;VC=Intron;DM=PAFAH2/PAF-AH_p_II;DM=PAFAH2/PAF-AH_p_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,G,T:11:11:0:0:5,1,5:167,11,140:16.07,0.40,0.00:16.07,0.40,0.00:0.00,0.00,0.00:0.93,0.00,0.00:0.93,0.00,0.00:0.00,0.00,0.00:60,60,60:33.4,11.0,30.0:0,0,0:0,0,0:34,123,90:117,26,61:31,0,25:NM_000437.3(PAFAH2) c.552+224A>G,-:0.56,-:NOT_FOUND,- 1 26310394 rs2275102 A G 126 nt VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.4533,G/0.5467;Gene=PAFAH2/NM_000437.3/1;CC=c.552+43T>C;VC=Intron;DM=PAFAH2/PAF-AH_p_II;DM=PAFAH2/PAF-AH_p_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:90:82:0:0:49,41:1577,1329:0.00,125.53:0.00,93.32:0.00,32.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,35.4:0,0:0,0:56,20:94,129:32,14:-,NM_000437.3(PAFAH2) c.552+43T>C:-,0.57:-,0.501461 1 26310579 . C . . NT END=26310950;NT GT ./. 1 26310836 rs3738458 G T 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4539,T/0.5461;Gene=PAFAH2/NM_000437.3/1;CC=c.410+115C>A;VC=Intron;DM=PAFAH2/PAF-AH_p_II;DM=PAFAH2/PAF-AH_p_II;DM=PAFAH2/PAF-AH_p_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:14:0:0:10,12:340,384:0.00,37.54:0.00,20.54:0.00,16.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,47.5:0,0:0,0:65,65:85,86:49,35:-,NM_000437.3(PAFAH2) c.410+115C>A:-,0.57:-,NOT_FOUND 1 26311020 . C . . NT END=26314721;NT GT ./. 1 26314564 rs2245979 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1949,C/0.8051;Gene=PAFAH2/NM_000437.3/1;CC=c.341+158A>G;VC=Intron;DM=PAFAH2/PAF-AH_p_II;DM=PAFAH2/PAF-AH_p_II;DM=PAFAH2/PAF-AH_p_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:222:25.54:25.54:0.00:1.00:1.00:0.00:60:44.3:0:0:44:106:31:NM_000437.3(PAFAH2) c.341+158A>G,NM_000437.3(PAFAH2) c.341+158A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 26314819 . C . . NT END=26315938;NT GT ./. 1 26316093 . C . . NT END=26317217;NT GT ./. 1 26317308 . T . . NT END=26349137;NT GT ./. 1 26317383 rs2992056 G A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7716,A/0.2284;Gene=PAFAH2/NM_000437.3/1;CC=c.-47-29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:6:0:0:12,14:372,477:35.13,0.00:4.71,0.00:30.42,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:38.8,8.4:0,0:0,0:119,98:30,52:18,28:NM_000437.3(PAFAH2) c.-47-29C>T,-:0.23,-:NOT_FOUND,- 1 26349109 rs78022960 C CT 103 nt VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.8994,CT/0.1006;NP=1172;Gene=EXTL1/NM_004455.2/1;CC=c.-27dupT;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:64:51:33:0:31,33:1074,1066:0.00,103.09:0.00,70.18:0.00,32.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,3.7:0,0:0,0:50,43:97,104:28,26:-,NM_004455.2(EXTL1) c.-27dupT:-,0.12:-,0.177236 1 26349917 . G . . NT END=26355683;NT GT ./. 1 26349967 rs1938405 C T 159 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.4185,T/0.5815;PC=0.005;Gene=EXTL1/NM_004455.2/1;CC=c.779+51C>T;VC=Intron;DM=EXTL1/Exostosin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:99:38:0:0:49,50:1502,1648:0.00,158.83:0.00,48.17:0.00,110.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,38.7:0,0:0,0:105,108:43,35:30,22:-,NM_004455.2(EXTL1) c.779+51C>T:-,0.59:-,0.435202 1 26355778 . G . . NT END=26356090;NT GT ./. 1 26356199 . G . . NT END=26356966;NT GT ./. 1 26357087 . G . . NT END=26357622;NT GT ./. 1 26357178 rs7413498 A AC 32 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.8438,AC/0.1562;DB;DBA=NA;PAF=A/0.8438,AC/0.1562;DB;DBA=NA;PAF=A/0.8438,AC/0.1562,ACC/.;DB;DBA=NA;PAF=NA;NP=52;Gene=EXTL1/NM_004455.2/1;CC=c.1101+102dupC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AC,D:37:9:12:3:17,5,12,3:416,72,355,86:0.00,4.37,32.49,6.15:0.00,-0.28,2.08,-0.16:0.00,4.65,30.41,6.31:0.00,0.00,1.00,0.00:0.00,0.00,0.95,0.00:0.00,0.00,1.00,0.00:60,60,60,60:22.5,45.2,23.2,10.3:0,3,0,0:0,0,0,0:117,75,93,108:32,76,57,43:24,23,22,8:-,NM_004455.2(EXTL1) c.1101+92_1101+93insC:-,NOT_FOUND:-,NOT_FOUND 1 26357656 rs2736831 C A 105 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.4058,A/0.5942;PC=0.003;Gene=EXTL1/NM_004455.2/1;CC=c.1135C>A;ProtCh=p.H379N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:71:49:0:0:35,36:1096,1122:104.92,0.00:68.79,0.00:36.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,30.9:0,0:0,0:86,56:63,94:28,25:NM_004455.2(EXTL1) c.1135C>A (p.His379Asn),-:0.61,-:0.546594,- 1 26357667 rs11247848 G A 98 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.8506,A/0.1494;Gene=EXTL1/NM_004455.2/1;CC=c.1146G>A;ProtCh=p.L382=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:70:51:0:0:34,35,1:1027,1211,9:98.10,0.00,-0.11:41.86,0.00,-0.03:56.24,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.7,36.4,72.0:0,0,0:0,0,0:61,81,20:89,70,131:33,34,0:NM_004455.2(EXTL1) c.1146G>A (p.(=)),-:0.17,-:0.188605,- 1 26357756 . G . . NT END=26357950;NT GT ./. 1 26357855 rs2802321 A G 203 nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.02676,G/0.9732;Gene=EXTL1/NM_004455.2/1;CC=c.1235-96A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:G:55:34:0:0:55:1764:202.53:113.50:89.03:1.00:1.00:1.00:60:47.6:0:0:85:66:45:NM_004455.2(EXTL1) c.1235-96A>G,NM_004455.2(EXTL1) c.1235-96A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 26358058 . G . . NT END=26358886;NT GT ./. 1 26358752 rs5773143 T TA 33 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1264,TA/0.8736;NP=726;Gene=EXTL1/NM_004455.2/1;CC=c.1342-133dupA;VC=Intron;DM=EXTL1/Glyco_transf_64;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:TA:9:8:9:0:9:286:32.89:29.41:3.48:1.00:1.00:1.00:60:1.2:0:0:20:131:11:NM_004455.2(EXTL1) c.1342-135_1342-134insA,NM_004455.2(EXTL1) c.1342-135_1342-134insA:0.89,0.89:NOT_FOUND,NOT_FOUND 1 26358977 . G . . NT END=26359719;NT GT ./. 1 26359246 rs1343829 T A 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1264,A/0.8736;Gene=EXTL1/NM_004455.2/1;CC=c.1431+270T>A;VC=Intron;DM=EXTL1/Glyco_transf_64 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:95:11.33:0.00:11.33:1.00:0.00:1.00:60:66.0:0:0:99:51:41:NM_004455.2(EXTL1) c.1431+270T>A,NM_004455.2(EXTL1) c.1431+270T>A:0.89,0.89:NOT_FOUND,NOT_FOUND 1 26359807 . G . . NT END=26360186;NT GT ./. 1 26360348 . G . . NT END=26361326;NT GT ./. 1 26361496 . G . . NT END=26361655;NT GT ./. 1 26361839 . G . . NT END=26365448;NT GT ./. 1 26362001 rs6665062 C T 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.9067,T/0.09325;Gene=EXTL1/NM_004455.2/1;CC=c.*163C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C,T:22:0:0:0:1,7,14:12,204,424:0.33,0.00,43.22:0.00,0.00,0.00:0.33,0.00,43.22:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:33.0,21.6,48.9:0,0,0:0,0,0:85,100,122:66,49,28:0,28,16:-,NM_004455.2(EXTL1) c.*163C>T:-,0.1:-,NOT_FOUND 1 26365374 rs4659404 T G 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4087,G/0.5913;Gene=SLC30A2/NM_001004434.2/1;CC=c.*277A>C;VC=3UTR;Gene=SLC30A2/NM_032513.4/0;CC=c.*277A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:G,T:19:19:0:0:13,6:445,198:45.56,0.00:45.56,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.4,13.3:0,0:0,0:64,25:87,124:29,10:NM_001004434.1(SLC30A2) c.=,-:0.61,-:NOT_FOUND,- 1 26365549 rs2997452 C T 138 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.2995,T/0.7005;Gene=SLC30A2/NM_001004434.2/1;CC=c.*102G>A;VC=3UTR;Gene=SLC30A2/NM_032513.4/0;CC=c.*102G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:103:88:0:0:1,56,46:11,1884,1469:-0.12,0.00,138.31:-0.18,0.00,98.49:0.06,0.00,39.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.0,3.9,39.9:0,0,0:0,0,0:0,54,53:151,93,97:0,35,30:-,NM_001004434.1(SLC30A2) c.*102G>A:-,0.72:-,NOT_FOUND 1 26365797 . C . . NT END=26366267;NT GT ./. 1 26366403 . C . . NT END=26368190;NT GT ./. 1 26368297 . C . . NT END=26369039;NT GT ./. 1 26369200 . C . . NT END=26369888;NT GT ./. 1 26369297 rs2997451 T C 131 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.1278,C/0.8722;Gene=SLC30A2/NM_001004434.2/1;CC=c.573-98A>G;VC=Intron;Gene=SLC30A2/NM_032513.4/0;CC=c.426-98A>G;VC=Intron;DM=SLC30A2/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:5:0:0:37:1139:131.41:13.27:118.15:1.00:1.00:1.00:60:40.8:0:0:91:60:38:NM_001004434.1(SLC30A2) c.573-98A>G,NM_001004434.1(SLC30A2) c.573-98A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 26370043 . C . . NT END=26370788;NT GT ./. 1 26370164 rs11585142 G A 56 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.3476,A/0.6524;PC=0.002;Gene=SLC30A2/NM_001004434.2/1;CC=c.419-122C>T;VC=Intron;Gene=SLC30A2/NM_032513.4/0;CC=c.272-122C>T;VC=Intron;DM=SLC30A2/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:7:0:0:21,19:583,608:56.18,0.00:0.56,0.00:55.62,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:50.0,10.1:0,0:0,0:90,84:59,66:24,42:NM_001004434.1(SLC30A2) c.419-122C>T,-:0.68,-:NOT_FOUND,- 1 26370267 rs11247851 C T 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4169,T/0.5831;PC=0.005;Gene=SLC30A2/NM_001004434.2/1;CC=c.419-225G>A;VC=Intron;Gene=SLC30A2/NM_032513.4/0;CC=c.272-225G>A;VC=Intron;DM=SLC30A2/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,T:11:1:0:0:7,4:231,125:0.00,11.28:0.00,-0.10:0.00,11.38:0.00,0.82:0.00,0.58:0.00,0.82:60,60:14.1,49.5:0,0:0,0:129,92:17,58:4,25:-,NM_001004434.1(SLC30A2) c.419-225G>A:-,0.6:-,NOT_FOUND 1 26370936 . C . . NT END=26371487;NT GT ./. 1 26371281 rs3008431 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8558,G/0.1442;PC=0.006;Gene=SLC30A2/NM_001004434.2/1;CC=c.271+207T>C;VC=Intron;Gene=SLC30A2/NM_032513.4/0;CC=c.271+207T>C;VC=Intron;DM=SLC30A2/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:13:9:0:0:6,7:165,211:0.00,20.55:0.00,17.94:0.00,2.62:0.00,0.99:0.00,1.00:0.00,0.96:60,60:10.0,47.7:0,0:0,0:74,29:76,122:27,9:-,NM_001004434.1(SLC30A2) c.271+207T>C:-,0.15:-,NOT_FOUND 1 26371709 . C . . NT END=26372337;NT GT ./. 1 26371788 rs3121763 G A 159 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.1881,A/0.8119;Gene=SLC30A2/NM_001004434.2/1;CC=c.51-80C>T;VC=Intron;Gene=SLC30A2/NM_032513.4/0;CC=c.51-80C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:8:0:0:41:1390:158.55:19.23:139.32:1.00:1.00:1.00:60:45.8:0:0:119:32:23:NM_001004434.1(SLC30A2) c.51-80C>T,NM_001004434.1(SLC30A2) c.51-80C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 26372144 rs6686190 A G 82 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.1342,G/0.8658;PC=0.005;Gene=SLC30A2/NM_001004434.2/1;CC=c.50+194T>C;VC=Intron;Gene=SLC30A2/NM_032513.4/0;CC=c.50+194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:24:0:0:24:709:82.25:80.31:1.94:1.00:1.00:1.00:60:62.5:0:0:39:111:23:NM_001004434.1(SLC30A2) c.50+194T>C,NM_001004434.1(SLC30A2) c.50+194T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 26372605 rs6672177 G C 719 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=206;DB;DBA=NA;PAF=G/0.1913,C/0.8087;Gene=SLC30A2/NM_001004434.2/1;CC=c.-218C>G;VC=5UTR;Gene=SLC30A2/NM_032513.4/0;CC=c.-218C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:206:107:0:0:205,1:6226,14:719.20,0.13:296.09,0.00:423.11,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,14.0:0,0:0,0:82,97:65,53:33,0:NM_001004434.1(SLC30A2) c.-217-u1C>G,NM_001004434.1(SLC30A2) c.-217-u1C>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 26372804 rs6692237 T C 740 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=196;DB;DBA=NA;PAF=T/0.1058,C/0.8942 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:196:121:0:0:196:6472:740.42:333.95:406.47:1.00:1.00:1.00:60:42.2:0:0:81:66:37:NM_001004434.1(SLC30A2) c.-217-u200A>G,NM_001004434.1(SLC30A2) c.-217-u200A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 26373547 . C . . NT END=26378363;NT GT ./. 1 26373694 rs3008217 C G 118 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.1885,G/0.8115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:0:0:0:32:1030:118.23:0.00:118.23:1.00:0.00:1.00:60:45.8:0:0:113:37:21:NM_001004434.1(SLC30A2) c.-217-u1090G>C,NM_001004434.1(SLC30A2) c.-217-u1090G>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 26373756 rs12045468 A C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4052,C/0.5948 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,C:11:0:0:0:5,6:179,161:0.00,15.66:0.00,0.00:0.00,15.66:0.00,0.98:0.00,0.00:0.00,0.98:60,60:21.0,73.2:0,0:0,0:68,100:80,50:32,27:-,NM_001004434.1(SLC30A2) c.-217-u1152T>G:-,0.62:-,NOT_FOUND 1 26378362 rs77965623 C T 64 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.9978,T/0.002196;NP=58;PC=0.942;Gene=TRIM63/NM_032588.3/1;CC=c.*2G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:31:0:0:19,20:567,660:0.00,63.83:0.00,33.49:0.00,30.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,43.1:0,0:0,0:59,52:92,88:26,29:-,NM_032588.3(TRIM63) c.*2G>A:-,0.0032:-,0.006612 1 26378375 . C . . NT END=26380383;NT GT ./. 1 26380456 . C . . NT END=26383693;NT GT ./. 1 26383819 . C . . NT END=26384118;NT GT ./. 1 26383875 rs2275947 A G 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.7392,G/0.2608;Gene=TRIM63/NM_032588.3/1;CC=c.855-57T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:70:35:0:0:38,31,1:1252,963,11:0.00,90.43,-0.06:0.00,29.08,0.07:0.00,61.35,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.6,41.1,115.0:0,0,0:0,0,0:86,95,133:59,55,18:31,23,0:-,NM_032588.3(TRIM63) c.855-57T>C:-,0.26:-,NOT_FOUND 1 26384013 rs12059101 A G 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.8826,G/0.1174;Gene=TRIM63/NM_032588.3/1;CC=c.854+106T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:23:0:0:22,15:743,478:0.00,44.09:0.00,27.18:0.00,16.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,40.1:0,0:0,0:77,62:72,89:53,35:-,NM_032588.3(TRIM63) c.854+106T>C:-,0.13:-,NOT_FOUND 1 26384142 . C . . NT END=26384880;NT GT ./. 1 26384690 rs1317709 T G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7722,G/0.2278;PC=0.011;Gene=TRIM63/NM_032588.3/1;CC=c.831+191A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:15:15:0:0:6,9:209,261:19.39,0.00:19.39,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.8,15.4:0,0:0,0:72,37:78,109:52,28:NM_032588.3(TRIM63) c.831+191A>C,-:0.24,-:NOT_FOUND,- 1 26385003 rs2275950 T C 210 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.8177,C/0.1823,G/.;PC=0.958;Gene=TRIM63/NM_032588.3/1;CC=c.709A>G;ProtCh=p.K237E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:142:98:0:0:66,76:2211,2508:209.99,0.00:95.62,0.00:114.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,3.7:0,0:0,0:98,84:43,66:33,34:NM_032588.3(TRIM63) c.709A>G (p.Lys237Glu),-:0.2,-:0.235045,- 1 26385115 . C . . NT END=26386756;NT GT ./. 1 26385150 rs2275949 G C 56 nt VT=SNV;PN=G;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.8433,C/0.1567;PC=0.003;Gene=TRIM63/NM_032588.3/1;CC=c.598-36C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:63:24:0:0:19,44:634,1414:55.72,0.00:13.74,0.00:41.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,4.5:0,0:0,0:119,107:32,42:24,29:NM_032588.3(TRIM63) c.598-36C>G,-:0.18,-:0.208596,- 1 26386853 . C . . NT END=26387656;NT GT ./. 1 26387423 rs2997447 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8101,A/0.1899;PC=0.002;Gene=TRIM63/NM_032588.3/1;CC=c.501+234C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:4:4:0:0:2,2:69,62:6.65,0.00:6.65,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:34.5,22.5:0,0:0,0:31,53:118,98:20,5:NM_032588.3(TRIM63) c.501+234C>T,-:0.2,-:NOT_FOUND,- 1 26387625 rs41311276 A C 129 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.8812,C/0.1188,T/.;PC=0.004;Gene=TRIM63/NM_032588.3/1;CC=c.501+32T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:86:79:0:0:43,43:1415,1347:0.00,129.27:0.00,85.39:0.00,43.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,36.2:0,0:0,0:35,63:109,88:22,34:-,NM_032588.3(TRIM63) c.501+32T>G:-,0.13:-,0.178994 1 26387826 . C . . NT END=26392758;NT GT ./. 1 26392932 . C . . NT END=26393826;NT GT ./. 1 26393986 . T . . NT END=26440799;NT GT ./. 1 26430961 rs2783641 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:3:0:0:1,3:33,98:0.00,10.25:0.00,4.73:0.00,5.53:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,39.3:0,0:0,0:132,71:18,75:0,5:-,NM_001243533.1(PDIK1L) c.-347-u7307C>T:-,0.18:-,NOT_FOUND 1 26440718 rs56134135 A T 82 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.8826,T/0.1174;Gene=PDIK1L/NM_001243532.1/0;CC=c.-17-65A>T;VC=Intron;Gene=PDIK1L/NM_001243533.1/1;CC=c.-17-65A>T;VC=Intron;Gene=PDIK1L/NM_152835.4/0;CC=c.-17-65A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:52:47:0:0:26,26:864,848:0.00,81.50:0.00,65.58:0.00,15.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,52.3:0,0:0,0:54,35:96,115:33,21:-,NM_001243533.1(PDIK1L) c.-17-65A>T:-,0.14:-,NOT_FOUND 1 26441085 . G . . NT END=26448327;NT GT ./. 1 26448447 rs17257107 A G 136 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.8828,G/0.1172;PC=1.000;Gene=PDIK1L/NM_001243532.1/0;CC=c.405A>G;ProtCh=p.K135=;VC=Silent;Gene=PDIK1L/NM_001243533.1/1;CC=c.405A>G;ProtCh=p.K135=;VC=Silent;Gene=PDIK1L/NM_152835.4/0;CC=c.405A>G;ProtCh=p.K135=;VC=Silent;DM=PDIK1L/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:71:0:0:55,42:1677,1444:0.00,135.63:0.00,66.13:0.00,69.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,40.4:0,0:0,0:70,82:80,68:38,34:-,NM_001243533.1(PDIK1L) c.405A>G (p.(=)):-,0.14:-,0.186837 1 26448849 rs17356867 T C 93 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.8828,C/0.1172;PC=0.159;Gene=PDIK1L/NM_001243532.1/0;CC=c.807T>C;ProtCh=p.Y269=;VC=Silent;Gene=PDIK1L/NM_001243533.1/1;CC=c.807T>C;ProtCh=p.Y269=;VC=Silent;Gene=PDIK1L/NM_152835.4/0;CC=c.807T>C;ProtCh=p.Y269=;VC=Silent;DM=PDIK1L/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:44:0:0:32,36:978,1130:92.63,0.00:55.17,0.00:37.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,5.3:0,0:0,0:57,83:89,67:30,41:NM_001243533.1(PDIK1L) c.807T>C (p.(=)),-:0.14,-:0.186837,- 1 26449069 . C . . NT END=26487782;NT GT ./. 1 26487995 rs61729396 C A 262 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=182;DB;DBA=NA;PAF=C/0.9912,A/0.008786;PC=0.012;Gene=FAM110D/NM_024869.2/1;CC=c.213C>A;ProtCh=p.R71=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:182:127:0:0:90,91,1:2738,2975,9:262.17,0.00,-0.16:137.02,0.00,-0.07:125.15,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.0,32.1,77.0:0,0,0:0,0,0:85,71,102:63,72,49:36,30,0:NM_024869.2(FAM110D) c.213C>A (p.(=)),-:0.01,-:0.018355,- 1 26488019 rs3748857 G A 292 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=195;DB;DBA=NA;PAF=G/0.7179,A/0.2821;Gene=FAM110D/NM_024869.2/1;CC=c.237G>A;ProtCh=p.P79=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:195:126:0:0:98,97:3038,3001:291.66,0.00:144.44,0.00:147.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,30.6:0,0:0,0:81,71:58,68:30,40:NM_024869.2(FAM110D) c.237G>A (p.(=)),-:0.26,-:0.061736,- 1 26488599 . C . . NT END=26492225;NT GT ./. 1 26492415 . C . . NT END=26492525;NT GT ./. 1 26492610 . C . . NT END=26494906;NT GT ./. 1 26494886 rs3762459 C G 188 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.5024,G/0.4976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:51:44:0:0:51:1637:187.89:127.49:60.40:1.00:1.00:1.00:60:42.1:0:0:44:102:20:NM_015871.4(ZNF593) c.-87-u1502C>G,NM_015871.4(ZNF593) c.-87-u1502C>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 26494991 . G . . NT END=26496474;NT GT ./. 1 26496651 rs7087 T C 493 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.4653,C/0.5347;PC=0.924;Gene=ZNF593/NM_015871.4/1;CC=c.177T>C;ProtCh=p.G59=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:133:66:0:0:132,1:4327,33:492.91,0.00:153.90,0.00:339.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,0.0:0,0:0,0:91,124:54,27:27,0:NM_015871.4(ZNF593) c.177T>C (p.(=)),NM_015871.4(ZNF593) c.177T>C (p.(=)):0.5,0.5:0.369116,0.369116 1 26496675 . G . . NT END=26496908;NT GT ./. 1 26496870 rs2232654 A G 198 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.5391,G/0.4609;Gene=ZNF593/NM_015871.4/1;CC=c.201-39A>G;VC=Intron;DM=ZNF593/zf-C2H2_jaz;DM=ZNF593/zf-C2H2_jaz GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A,G:55:45:0:0:1,54:33,1748:0.00,198.26:0.00,136.22:0.00,62.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,44.1:0,0:0,0:55,56:95,92:0,36:NM_015871.4(ZNF593) c.201-39A>G,NM_015871.4(ZNF593) c.201-39A>G:0.44,0.44:0.329617,0.329617 1 26496972 . G . . NT END=26497065;NT GT ./. 1 26497208 . C . . NT END=26504038;NT GT ./. 1 26497340 rs8768 A C 92 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.1591,C/0.8409;PC=0.130;Gene=ZNF593/NM_015871.4/1;CC=c.*133A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:0:0:0:27:793:92.06:0.00:92.06:1.00:0.00:1.00:60:35.0:0:0:99:52:35:NM_015871.4(ZNF593) c.*133A>C,NM_015871.4(ZNF593) c.*133A>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 26504036 rs17356937 G A 145 nt VT=SNV;PN=G;NN=C;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.9002,A/0.09984;PC=0.001;Gene=CNKSR1/NM_006314.2/0;CC=c.-3G>A;VC=5UTR;Gene=CNKSR1/NM_001297647.1/0;CC=c.-3G>A;VC=5UTR;Gene=CNKSR1/NM_001297648.1/1;CC=c.-772G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:106:90:0:0:49,57:1534,1890:144.96,0.00:95.11,0.00:49.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,8.8:0,0:0,0:67,69:79,78:37,21:NM_006314.2(CNKSR1) c.-3G>A,-:0.12,-:0.180609,- 1 26504091 . G . . NT END=26506943;NT GT ./. 1 26504196 rs2783707 C G 133 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.4647,G/0.5353;Gene=CNKSR1/NM_006314.2/0;CC=c.52+106C>G;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.52+106C>G;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.-718+106C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:5:0:0:37:1157:133.26:10.06:123.20:1.00:1.00:1.00:60:53.4:0:0:107:44:34:NM_006314.2(CNKSR1) c.52+106C>G,NM_006314.2(CNKSR1) c.52+106C>G:0.51,0.51:NOT_FOUND,NOT_FOUND 1 26506753 rs1889737 A G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5635,G/0.4365;PC=0.043;Gene=CNKSR1/NM_006314.2/0;CC=c.53-191A>G;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.53-191A>G;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.-717-191A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,G:13:13:0:0:7,6:201,162:0.00,15.15:0.00,15.15:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:25.3,80.3:0,0:0,0:49,50:101,99:22,19:-,NM_006314.2(CNKSR1) c.53-191A>G:-,0.39:-,NOT_FOUND 1 26506790 rs1889738 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5635,G/0.4365;PC=0.100;Gene=CNKSR1/NM_006314.2/0;CC=c.53-154A>G;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.53-154A>G;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.-717-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,C,G:17:17:0:0:9,1,7:269,11,173:0.00,0.24,15.84:0.00,0.24,15.84:0.00,0.00,0.00:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.00:60,60,60:19.1,84.0,52.1:0,0,0:0,0,0:47,106,63:103,43,87:22,0,34:-,NM_006314.2(CNKSR1) c.53-154A>G:-,0.39:-,NOT_FOUND 1 26507102 . G . . NT END=26507205;NT GT ./. 1 26507388 . G . . NT END=26508347;NT GT ./. 1 26507587 rs12044058 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6865,G/0.3135;PC=0.001;Gene=CNKSR1/NM_006314.2/0;CC=c.392+200A>G;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.392+200A>G;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.-378+200A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:10,8:300,228:0.00,21.23:0.00,0.00:0.00,21.23:0.00,0.99:0.00,0.00:0.00,0.99:60,60:45.7,65.6:0,0:0,0:98,122:50,24:27,16:-,NM_006314.2(CNKSR1) c.392+200A>G:-,0.28:-,NOT_FOUND 1 26508293 rs3819033 G A 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7141,A/0.2859;Gene=CNKSR1/NM_006314.2/0;CC=c.393-55G>A;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.393-55G>A;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.-377-55G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,G:14:12:0:0:9,5:272,146:27.54,0.00:17.21,0.00:10.33,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.6,2.6:0,0:0,0:27,84:121,67:11,31:NM_006314.2(CNKSR1) c.393-55G>A,-:0.26,-:0.077092,- 1 26508433 . G . . NT END=26508851;NT GT ./. 1 26508480 rs2275945 T C 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6635,C/0.3365;PC=0.001;Gene=CNKSR1/NM_006314.2/0;CC=c.477+48T>C;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.477+48T>C;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.-293+48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:10:0:0:13,11:401,375:39.11,0.00:9.40,0.00:29.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,3.3:0,0:0,0:110,115:38,35:14,14:NM_006314.2(CNKSR1) c.477+48T>C,-:0.3,-:0.120483,- 1 26508894 . G . . NT END=26508970;NT GT ./. 1 26509076 . G . . NT END=26509687;NT GT ./. 1 26509748 . G . . NT END=26509836;NT GT ./. 1 26509906 . G . . NT END=26510219;NT GT ./. 1 26510322 . G . . NT END=26510561;NT GT ./. 1 26510633 . G . . NT END=26510704;NT GT ./. 1 26510779 . G . . NT END=26510891;NT GT ./. 1 26510999 . G . . NT END=26511075;NT GT ./. 1 26511104 . G . . NT END=26511504;NT GT ./. 1 26511678 . G . . NT END=26513658;NT GT ./. 1 26511700 rs2783680 A G 126 nt VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=A/0.2891,G/0.7109;Gene=CNKSR1/NM_006314.2/0;CC=c.1308+23A>G;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.1329+23A>G;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.534+23A>G;VC=Intron;DM=CNKSR1/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:114:42:0:0:70,44:2280,1378:0.00,125.77:0.00,29.63:0.00,96.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,35.2:0,0:0,0:107,89:44,58:26,28:-,NM_006314.2(CNKSR1) c.1308+23A>G:-,0.69:-,0.569279 1 26513733 . G . . NT END=26513901;NT GT ./. 1 26513974 . G . . NT END=26514724;NT GT ./. 1 26514111 rs35307485 C GT 7 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.007;Gene=CNKSR1/NM_006314.2/0;CC=c.1454+137_1454+138insG;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.1475+137_1475+138insG;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.680+137_680+138insG;VC=Intron;DM=CNKSR1/PH;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,C,GT:10:0:3:0:1,6,3:24,151,76:1.61,0.00,6.54:0.00,0.00,0.00:1.61,0.00,6.54:0.00,0.00,0.62:0.00,0.00,0.00:0.00,0.00,0.62:60,60,70:276.0,38.2,44.7:0,0,0:0,0,0:149,107,86:2,43,65:0,36,34:-,NM_006314.2(CNKSR1) c.1454+138delCinsGT:-,NOT_FOUND:-,NOT_FOUND 1 26514799 . G . . NT END=26514932;NT GT ./. 1 26514995 . G . . NT END=26515088;NT GT ./. 1 26515189 . G . . NT END=26515262;NT GT ./. 1 26515445 . G . . NT END=26515769;NT GT ./. 1 26515529 rs59607766 ACCAGACT A 93 nt VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=ACCAGACT/0.05331,A/0.9467;DB;DBA=NA;PAF=ACCAGACT/0.05331,A/0.9467;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ACCAGACT/0.05331,A/0.9467;NP=1621;Gene=CNKSR1/NM_006314.2/0;CC=c.1872+101_1872+107delCAGACTC;VC=Intron;Gene=CNKSR1/NM_001297647.1/0;CC=c.1893+101_1893+107delCAGACTC;VC=Intron;Gene=CNKSR1/NM_001297648.1/1;CC=c.1098+101_1098+107delCAGACTC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACCAGACT,C,A:55:17:0:33:22,1,32:659,10,938:0.00,-0.01,92.99:0.00,0.11,14.47:0.00,-0.12,78.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.1,20.0,4.9:0,0,0:0,0,0:138,144,81:10,7,70:5,0,24:-,NM_006314.2(CNKSR1) c.1872+86_1872+92delCCAGACT:-,0.95:-,NOT_FOUND 1 26516040 . C . . NT END=26517118;NT GT ./. 1 26517267 rs41284333 A G 187 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.8768,G/0.1232;Gene=CATSPER4/NM_198137.1/1;CC=c.149A>G;ProtCh=p.H50R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:106:68:0:0:50,56:1618,1920:0.00,186.89:0.00,67.36:0.00,119.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,48.0:0,0:0,0:80,75:64,68:26,43:-,NM_198137.1(CATSPER4) c.149A>G (p.His50Arg):-,0.14:-,0.2006 1 26517332 . G . . NT END=26517777;NT GT ./. 1 26517667 rs11247864 T C 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.7045,C/0.2955;Gene=CATSPER4/NM_198137.1/1;CC=c.214-111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:55:0:0:24,34:751,999:69.49,0.00:61.56,0.00:7.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.8,12.9:0,0:0,0:40,39:109,110:20,20:NM_198137.1(CATSPER4) c.214-111T>C,-:0.29,-:NOT_FOUND,- 1 26517773 rs11247865 T C 199 nt VT=SNV;PN=T;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=T/0.865,C/0.135;PC=0.005;Gene=CATSPER4/NM_198137.1/1;CC=c.214-5T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:136:113:0:0:63,73:2100,2231:199.32,0.00:137.89,0.00:61.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.5,8.5:0,0:0,0:59,62:84,79:27,34:NM_198137.1(CATSPER4) c.214-5T>C,-:0.15,-:0.208596,- 1 26517794 rs11247866 A G 210 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=A/0.878,G/0.122;PC=1.000;Gene=CATSPER4/NM_198137.1/1;CC=c.230A>G;ProtCh=p.Q77R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:140:105:0:0:71,69:2409,2188:0.00,209.57:0.00,123.50:0.00,86.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,82.5:0,0:0,0:68,61:82,89:31,32:-,NM_198137.1(CATSPER4) c.230A>G (p.Gln77Arg):-,0.14:-,0.199985 1 26517891 rs11247867 C T 182 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.883,T/0.117;PC=0.296;Gene=CATSPER4/NM_198137.1/1;CC=c.327C>T;ProtCh=p.I109=;VC=Silent;DM=CATSPER4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:126:60:0:0:67,59:2031,1914:0.00,181.85:0.00,61.83:0.00,120.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,62.7:0,0:0,0:87,96:59,53:34,32:-,NM_198137.1(CATSPER4) c.327C>T (p.(=)):-,0.13:-,0.195986 1 26517922 . G . . NT END=26520277;NT GT ./. 1 26520380 . G . . NT END=26524176;NT GT ./. 1 26524275 . G . . NT END=26524447;NT GT ./. 1 26524401 rs57653638 A G 138 nt VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.8758,G/0.1242;PC=0.034;Gene=CATSPER4/NM_198137.1/1;CC=c.558-47A>G;VC=Intron;DM=CATSPER4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:82:0:1:53,44:1731,1465:0.00,138.46:0.00,118.98:0.00,19.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,39.8:0,0:0,0:55,60:93,87:32,35:-,NM_198137.1(CATSPER4) c.558-47A>G:-,0.14:-,0.193449 1 26524569 . G . . NT END=26524776;NT GT ./. 1 26524706 rs9970046 A G 100 nt VT=SNV;PN=T;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.3275,G/0.6725;PC=0.823;Gene=CATSPER4/NM_198137.1/1;CC=c.679-71A>G;VC=Intron;DM=CATSPER4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:87:52:0:0:53,33,1:1684,1090,11:0.00,99.87,-0.12:0.00,46.57,0.01:0.00,53.29,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.9,44.3,11.0:0,0,0:0,0,0:71,81,150:80,69,1:37,38,0:-,NM_198137.1(CATSPER4) c.679-71A>G:-,0.71:-,NOT_FOUND 1 26524911 . G . . NT END=26526374;NT GT ./. 1 26526348 rs17257148 G C 123 nt VT=SNV;PN=T;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.868,C/0.132;PC=0.060;Gene=CATSPER4/NM_198137.1/1;CC=c.813-27G>C;VC=Intron;DM=CATSPER4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:85:75:0:0:38,47:1298,1568:122.56,0.00:92.58,0.00:29.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.5,12.4:0,0:0,0:48,59:99,91:30,27:NM_198137.1(CATSPER4) c.813-27G>C,-:0.13,-:0.190835,- 1 26526439 rs17257155 A G 223 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=A/0.8674,G/0.1326;PC=0.155;Gene=CATSPER4/NM_198137.1/1;CC=c.877A>G;ProtCh=p.I293V;VC=Missense;DM=CATSPER4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:142:103:0:0:72,70:2288,2327:0.00,223.41:0.00,109.21:0.00,114.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,45.1:0,0:0,0:73,49:76,96:42,29:-,NM_198137.1(CATSPER4) c.877A>G (p.Ile293Val):-,0.13:-,0.190835 1 26526550 . G . . NT END=26527320;NT GT ./. 1 26527533 . G . . NT END=26527844;NT GT ./. 1 26527699 rs869139 T C 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6206,C/0.3794;Gene=CATSPER4/NM_198137.1/1;CC=c.1200-146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:26:21:0:0:1,11,14:7,371,429:-0.08,34.90,0.00:-0.05,24.87,0.00:-0.03,10.03,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.93,0.00:60,60,60:29.0,44.0,10.9:0,0,0:0,0,0:63,77,65:88,73,84:0,22,49:NM_198137.1(CATSPER4) c.1200-146T>C,-:0.36,-:NOT_FOUND,- 1 26528011 . G . . NT END=26528979;NT GT ./. 1 26528181 . CT C 11 idl,rn VT=DEL;SST=Single;DP=15;Gene=CATSPER4/NM_198137.1/1;CC=c.1365+188delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CT,I,C:12:0:3:6:6,2,4:203,86,177:0.00,5.23,10.50:0.00,0.00,0.00:0.00,5.23,10.50:0.00,0.00,0.76:0.00,0.00,0.00:0.00,0.00,0.76:60,60,60:8.5,29.0,13.2:0,1,2:0,0,0:134,80,76:15,66,74:5,6,43:-,NM_198137.1(CATSPER4) c.1365+172delT:-,NOT_FOUND:-,NOT_FOUND 1 26528761 rs34198298 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9181,A/0.08187;Gene=CATSPER4/NM_198137.1/1;CC=c.1366-219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,G:5:5:0:0:4,1:111,28:11.89,0.00:11.89,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:27.8,0.0:0,0:0,0:41,91:109,60:12,0:NM_198137.1(CATSPER4) c.1366-219G>A,-:0.09,-:NOT_FOUND,- 1 26529034 . G . . NT END=26566274;NT GT ./. 1 26545946 rs6697521 A C 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.2752,C/0.7248;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:22:0:0:18,12:568,415:0.00,38.47:0.00,19.12:0.00,19.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,43.8:0,0:0,0:55,81:87,69:41,24:-,chr1 g.26545945A>C (intergenic):-,0.76:-,NOT_FOUND 1 26546107 rs56050270 AT A 9 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AT/0.2829,A/0.7171;NP=527;PC=0.066;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:AT,A:10:2:0:3:7,3:215,100:0.00,8.78:0.00,-0.23:0.00,9.01:0.00,0.62:0.00,0.59:0.00,0.94:60,60:8.9,16.3:1,0:0,0:113,97:38,54:31,23:-,chr1 g.26546108delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 26546231 rs10902721 A T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5946,T/0.4054;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,T:6:0:0:0:2,4:54,108:0.00,11.02:0.00,0.00:0.00,11.02:0.00,0.93:0.00,0.00:0.00,0.93:60,60:21.0,76.8:0,0:0,0:103,109:47,41:45,19:-,chr1 g.26546230A>T (intergenic):-,0.46:-,NOT_FOUND 1 26547115 rs1577506 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2812,C/0.7188;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:C,T:6:0:0:0:4,2:114,48:11.65,0.00:0.00,0.00:11.65,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:48.8,36.5:0,0:0,0:115,115:34,36:24,35:chr1 g.26547114T>C (intergenic),-:0.75,-:NOT_FOUND,- 1 26566330 . G . . NT END=26570656;NT GT ./. 1 26570482 rs58751883 CAAAAAAAAAAA C 15 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CAAAAAAAAAAA/0.01158,C/0.9884;DB;DBA=NA;PAF=CAAAAAAAAAAA/0.01158,C/0.9884;NP=30;PC=0.003;Gene=CEP85/NM_001281517.1/0;CC=c.55+4169_55+4179delAAAAAAAAAAA;VC=Intron;Gene=CEP85/NM_022778.3/1;CC=c.56-159_56-149delAAAAAAAAAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CAAAAAAAAAAA,I,C:8:9:1:6:2,1,5:66,33,167:0.00,2.72,14.90:0.00,2.72,14.90:0.00,0.00,0.00:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.00:60,60,60:0.0,102.0,22.0:0,0,1:0,0,0:139,38,59:11,112,91:10,0,29:-,NM_022778.2(CEP85) c.56-174_56-164delAAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 26570810 . G . . NT END=26581661;NT GT ./. 1 26570993 rs869683 T A 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6158,A/0.3842;PC=0.021;Gene=CEP85/NM_001281517.1/0;CC=c.55+4664T>A;VC=Intron;Gene=CEP85/NM_022778.3/1;CC=c.208+184T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,C,T:10:0:0:0:3,1,6:91,11,197:8.03,0.37,0.00:0.00,0.00,0.00:8.03,0.37,0.00:0.62,0.00,0.00:0.00,0.00,0.00:0.62,0.00,0.00:60,60,60:77.0,36.0,29.0:0,0,0:0,0,0:110,45,86:40,105,64:3,0,43:NM_022778.2(CEP85) c.208+184T>A,-:0.45,-:NOT_FOUND,- 1 26582357 . G . . NT END=26584087;NT GT ./. 1 26583419 rs71004573 G GGT 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.4641,GGG/.,GGT/0.5359,GGTGTGTGTGTGTGT/.,GT/.,GTGTGTGTGTGT/.;DB;DBA=NA;PAF=NA;NP=67;NP=9;PC=0.006;Gene=CEP85/NM_001281517.1/0;CC=c.751-641_751-640insGT;VC=Intron;Gene=CEP85/NM_022778.3/1;CC=c.904-641_904-640insGT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GGT:4:5:4:0:1,3:35,118:0.00,9.07:0.00,5.86:0.00,3.20:0.00,0.78:0.00,0.78:0.00,0.87:3,60:0.0,58.3:0,1:0,0:140,21:11,118:0,12:-,NM_022778.2(CEP85) c.904-669_904-668insGT:-,NOT_FOUND:-,NOT_FOUND 1 26583998 rs4659417 T C 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.2736,C/0.7264;PC=0.019;Gene=CEP85/NM_001281517.1/0;CC=c.751-90T>C;VC=Intron;Gene=CEP85/NM_022778.3/1;CC=c.904-90T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:31:0:0:21,15:645,491:63.83,0.00:44.03,0.00:19.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,7.0:0,0:0,0:28,43:123,108:18,23:NM_022778.2(CEP85) c.904-90T>C,-:0.76,-:NOT_FOUND,- 1 26584222 . G . . NT END=26584633;NT GT ./. 1 26584752 . G . . NT END=26586107;NT GT ./. 1 26586294 . G . . NT END=26594973;NT GT ./. 1 26595127 . G . . NT END=26595950;NT GT ./. 1 26596106 . G . . NT END=26597504;NT GT ./. 1 26597435 rs4659419 G A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2736,A/0.7264;Gene=CEP85/NM_001281517.1/0;CC=c.1497-70G>A;VC=Intron;Gene=CEP85/NM_022778.3/1;CC=c.1650-70G>A;VC=Intron;Gene=CEP85/NM_001281518.1/0;CC=c.-55-70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:19:0:0:11,9:340,276:33.26,0.00:24.51,0.00:8.75,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:37.5,14.9:0,0:0,0:38,41:113,109:35,35:NM_022778.2(CEP85) c.1650-70G>A,-:0.76,-:NOT_FOUND,- 1 26597599 . G . . NT END=26598511;NT GT ./. 1 26597672 rs189266207 C T 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.998,T/0.001997;NP=71;Gene=CEP85/NM_001281517.1/0;CC=c.1590+74C>T;VC=Intron;Gene=CEP85/NM_022778.3/1;CC=c.1743+74C>T;VC=Intron;Gene=CEP85/NM_001281518.1/0;CC=c.39+74C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:3:0:0:13,11:337,371:0.00,35.20:0.00,1.50:0.00,33.70:0.00,1.00:0.00,0.85:0.00,1.00:60,60:23.4,37.5:0,0:0,0:109,124:42,26:23,21:-,NM_022778.2(CEP85) c.1743+74C>T:-,0.0023:-,NOT_FOUND 1 26598563 . G . . NT END=26601454;NT GT ./. 1 26601385 rs3795685 G A 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6098,A/0.3902;Gene=CEP85/NM_001281517.1/0;CC=c.1642-70G>A;VC=Intron;Gene=CEP85/NM_022778.3/1;CC=c.1795-70G>A;VC=Intron;Gene=CEP85/NM_001281518.1/0;CC=c.91-70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:36:0:0:16,20:527,658:49.61,0.00:43.75,0.00:5.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,8.2:0,0:0,0:50,32:100,117:29,23:NM_022778.2(CEP85) c.1795-70G>A,-:0.46,-:NOT_FOUND,- 1 26601563 . G . . NT END=26603025;NT GT ./. 1 26603252 . G . . NT END=26603623;NT GT ./. 1 26603785 . G . . NT END=26606646;NT GT ./. 1 26603993 rs3820519 A C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2738,C/0.7262;Gene=CEP85/NM_001281517.1/0;CC=c.*209A>C;VC=3UTR;Gene=CEP85/NM_022778.3/1;CC=c.*209A>C;VC=3UTR;Gene=CEP85/NM_001281518.1/0;CC=c.*209A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,C:8:0:0:0:4,4:131,121:0.00,11.60:0.00,0.00:0.00,11.60:0.00,0.87:0.00,0.00:0.00,0.87:60,60:6.0,30.2:0,0:0,0:144,112:5,38:1,15:-,NM_022778.2(CEP85) c.=:-,0.76:-,NOT_FOUND 1 26606695 . G . . NT END=26607255;NT GT ./. 1 26607005 rs34824071 C A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.86,A/0.14;Gene=SH3BGRL3/NM_031286.3/1;CC=c.49-251C>A;VC=Intron;DM=SH3BGRL3/SH3BGR;DM=SH3BGRL3/SH3BGR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C:8:3:0:0:5,3:104,101:10.35,0.00:5.28,0.00:5.07,0.00:0.97,0.00:0.95,0.00:0.99,0.00:60,60:141.0,26.7:0,0:0,0:44,77:107,53:13,2:NM_031286.3(SH3BGRL3) c.49-251C>A,-:0.17,-:NOT_FOUND,- 1 26607123 rs12759434 C T 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6072,T/0.3928;Gene=SH3BGRL3/NM_031286.3/1;CC=c.49-133C>T;VC=Intron;DM=SH3BGRL3/SH3BGR;DM=SH3BGRL3/SH3BGR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:23:23:0:0:9,1,13:231,6,429:0.00,-0.04,42.65:0.00,-0.04,42.65:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:31.7,160.0,52.9:0,0,0:0,0,0:41,141,36:110,10,114:9,0,18:-,NM_031286.3(SH3BGRL3) c.49-133C>T:-,0.46:-,NOT_FOUND 1 26607424 . G . . NT END=26607548;NT GT ./. 1 26607615 . G . . NT END=26608789;NT GT ./. 1 26608814 rs6672357 A G 105 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.25,G/0.75;Gene=UBXN11/NM_001077262.1/0;CC=c.1179T>C;ProtCh=p.P393=;VC=Silent;Gene=UBXN11/NM_183008.2/0;CC=c.1539T>C;ProtCh=p.P513=;VC=Silent;Gene=UBXN11/NM_145345.2/1;CC=c.1440T>C;ProtCh=p.P480=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:106:68:0:2:68,38:2073,1167:0.00,104.82:0.00,57.89:0.00,46.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.6,60.4:0,0:0,0:87,112:53,14:31,14:-,NM_145345.2(UBXN11) c.1440T>C (p.(=)):-,0.76:-,NOT_FOUND 1 26608828 rs1134584 G A 52 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.6066,A/0.3934;Gene=UBXN11/NM_001077262.1/0;CC=c.1165C>T;ProtCh=p.P389S;VC=Missense;Gene=UBXN11/NM_183008.2/0;CC=c.1525C>T;ProtCh=p.P509S;VC=Missense;Gene=UBXN11/NM_145345.2/1;CC=c.1426C>T;ProtCh=p.P476S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:88:52:0:4:19,68,1:629,2012,13:52.17,0.00,-0.12:28.81,0.00,-0.16:23.36,0.00,0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:81.2,23.6,37.0:0,1,0:0,0,0:123,94,61:28,49,90:14,37,0:NM_145345.2(UBXN11) c.1426C>T (p.Pro476Ser),-:0.37,-:0.609287,- 1 26608843 rs6667693 C A 14 sb VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;PC=0.005;Gene=UBXN11/NM_001077262.1/0;CC=c.1150G>T;ProtCh=p.G384C;VC=Missense;Gene=UBXN11/NM_183008.2/0;CC=c.1510G>T;ProtCh=p.G504C;VC=Missense;Gene=UBXN11/NM_145345.2/1;CC=c.1411G>T;ProtCh=p.G471C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:A,C,G,T:85:49:0:2:8,72,4,1:214,1951,45,34:14.09,0.00,0.28,1.59:14.83,0.00,-0.74,-0.19:-0.74,0.00,1.02,1.77:0.93,0.00,0.00,0.00:0.96,0.00,0.00,0.00:0.96,0.00,0.00,0.00:60,60,60,60:76.2,33.4,60.5,34.0:2,0,0,0:0,0,0,0:28,112,64,130:110,34,73,21:18,31,20,0:NM_145345.2(UBXN11) c.1411G>T (p.Gly471Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 26608852 rs61775089 G A 17 sb;idl VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;Gene=UBXN11/NM_001077262.1/0;CC=c.1141C>T;ProtCh=p.P381S;VC=Missense;Gene=UBXN11/NM_183008.2/0;CC=c.1501C>T;ProtCh=p.P501S;VC=Missense;Gene=UBXN11/NM_145345.2/1;CC=c.1402C>T;ProtCh=p.P468S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G,T:74:45:0:2:7,65,2:234,1984,24:16.77,0.00,-0.09:15.49,0.00,-0.09:1.28,0.00,-0.00:0.89,0.00,0.00:0.95,0.00,0.00:0.95,0.00,0.00:60,60,60:70.1,39.3,112.0:2,0,0:0,0,0:29,88,92:107,58,40:16,40,40:NM_145345.2(UBXN11) c.1402C>T (p.Pro468Ser),-:0.27,-:NOT_FOUND,- 1 26608879 rs1134581 C T 68 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=NA;NP=108;Gene=UBXN11/NM_001077262.1/0;CC=c.1114G>A;ProtCh=p.G372S;VC=Missense;Gene=UBXN11/NM_183008.2/0;CC=c.1474G>A;ProtCh=p.G492S;VC=Missense;Gene=UBXN11/NM_145345.2/1;CC=c.1375G>A;ProtCh=p.G459S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:120:79:0:0:95,25:2718,823:0.00,67.63:0.00,43.54:0.00,24.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.4,100.6:2,0:0,0:48,25:88,104:36,8:-,NM_145345.2(UBXN11) c.1375G>A (p.Gly459Ser):-,NOT_FOUND:-,NOT_FOUND 1 26608885 rs201454352 C T 81 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=NA;Gene=UBXN11/NM_001077262.1/0;CC=c.1108G>A;ProtCh=p.G370S;VC=Missense;Gene=UBXN11/NM_183008.2/0;CC=c.1468G>A;ProtCh=p.G490S;VC=Missense;Gene=UBXN11/NM_145345.2/1;CC=c.1369G>A;ProtCh=p.G457S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:129:87:0:0:1,97,1,30:14,2900,14,971:-0.14,0.00,-0.14,81.33:-0.19,0.00,-0.19,50.00:0.05,0.00,0.05,31.33:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:9.0,23.8,14.0,91.7:1,1,0,0:0,0,0,0:86,47,11,27:65,92,140,99:0,32,0,11:-,NM_145345.2(UBXN11) c.1369G>A (p.Gly457Ser):-,NOT_FOUND:-,NOT_FOUND 1 26608889 rs202239787 A T 85 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=NA;Gene=UBXN11/NM_001077262.1/0;CC=c.1104T>A;ProtCh=p.G368=;VC=Silent;Gene=UBXN11/NM_183008.2/0;CC=c.1464T>A;ProtCh=p.G488=;VC=Silent;Gene=UBXN11/NM_145345.2/1;CC=c.1365T>A;ProtCh=p.G455=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:136:92:0:0:101,35:3050,1019:0.00,84.94:0.00,47.35:0.00,37.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.0,86.4:2,0:0,0:41,30:100,98:29,14:-,NM_145345.2(UBXN11) c.1365T>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 26609061 . C . . NT END=26609139;NT GT ./. 1 26609259 rs7522905 C T 315 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=263;DB;DBA=NA;PAF=C/0.6154,T/0.3846;Gene=UBXN11/NM_001077262.1/0;CC=c.813G>A;ProtCh=p.T271=;VC=Silent;Gene=UBXN11/NM_183008.2/0;CC=c.1173G>A;ProtCh=p.T391=;VC=Silent;Gene=UBXN11/NM_145345.2/1;CC=c.1074G>A;ProtCh=p.T358=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:263:172:0:0:157,106:5018,3417:0.00,315.34:0.00,130.09:0.00,185.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,65.3:0,0:0,0:66,58:83,88:36,34:-,NM_145345.2(UBXN11) c.1074G>A (p.(=)):-,0.45:-,0.580952 1 26609281 . C . . NT END=26609354;NT GT ./. 1 26609307 rs6598952 G T 316 nt VT=SNV;PN=C;NN=C;SST=Single;DP=257;DB;DBA=NA;PAF=G/0.2738,A/.,T/0.7262;Gene=UBXN11/NM_001077262.1/0;CC=c.792-27C>A;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.1152-27C>A;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.1053-27C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:257:157:0:0:151,106:4833,3415:0.00,316.37:0.00,134.12:0.00,182.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,68.2:0,0:0,0:78,76:67,59:30,31:-,NM_145345.2(UBXN11) c.1053-27C>A:-,0.76:-,0.918634 1 26609429 . C . . NT END=26610632;NT GT ./. 1 26610737 . C . . NT END=26610852;NT GT ./. 1 26610891 rs4332350 A C 282 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=226;DB;DBA=NA;PAF=A/0.273,C/0.727,T/.;Gene=UBXN11/NM_001077262.1/0;CC=c.575T>G;ProtCh=p.L192R;VC=Missense;Gene=UBXN11/NM_183008.2/0;CC=c.935T>G;ProtCh=p.L312R;VC=Missense;Gene=UBXN11/NM_145345.2/1;CC=c.836T>G;ProtCh=p.L279R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:226:144:0:0:126,99,1:4174,3020,6:0.00,282.10,-0.21:0.00,139.22,-0.08:0.00,142.89,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.9,37.9,89.0:0,0,0:0,0,0:66,85,123:71,64,28:32,33,0:-,NM_145345.2(UBXN11) c.836T>G (p.Leu279Arg):-,0.76:-,0.919189 1 26610974 . C . . NT END=26611240;NT GT ./. 1 26611834 . A . . NT END=26611954;NT GT ./. 1 26612033 . C . . NT END=26612313;NT GT ./. 1 26612042 rs11247898 A G 99 nt VT=SNV;PN=G;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.2772,G/0.7228;Gene=UBXN11/NM_001077262.1/0;CC=c.415-10T>C;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.775-10T>C;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.676-10T>C;VC=Intron;DM=UBXN11/SEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:37:0:0:40,32:1210,1047:0.00,98.54:0.00,35.58:0.00,62.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.5,41.6:0,0:0,0:86,89:62,54:23,36:-,NM_145345.2(UBXN11) c.676-10T>C:-,0.76:-,0.918516 1 26612529 . C . . NT END=26620695;NT GT ./. 1 26620489 rs3732416 T C 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.281,C/0.719;PC=0.015;Gene=UBXN11/NM_001077262.1/0;CC=c.199+6928A>G;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.559+207A>G;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.460+207A>G;VC=Intron;DM=UBXN11/UBX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:C,T:17:17:0:0:11,6:380,151:38.49,0.00:38.49,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.0,21.7:0,0:0,0:24,69:127,82:19,38:NM_145345.2(UBXN11) c.460+207A>G,-:0.75,-:NOT_FOUND,- 1 26620823 . C . . NT END=26623409;NT GT ./. 1 26620846 rs3832184 C CA 174 nt VT=INS;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.2806,CA/0.7194;NP=3343;Gene=UBXN11/NM_001077262.1/0;CC=c.199+6570_199+6571insT;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.433-25_433-24insT;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.334-25_334-24insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:140:77:59:0:81,59:2537,1867:0.00,173.51:0.00,57.09:0.00,116.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,5.1:0,0:0,0:110,100:34,44:31,31:-,NM_145345.2(UBXN11) c.334-25_334-24insT:-,0.75:-,0.913062 1 26620998 rs6695643 A G 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.278,G/0.722;PC=0.006;Gene=UBXN11/NM_001077262.1/0;CC=c.199+6419T>C;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.433-176T>C;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.334-176T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:0:0:0:17,10:483,311:0.00,28.16:0.00,0.00:0.00,28.16:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.5,40.6:0,0:0,0:96,89:55,60:27,39:-,NM_145345.2(UBXN11) c.334-176T>C:-,0.76:-,NOT_FOUND 1 26623487 . C . . NT END=26623917;NT GT ./. 1 26623973 . C . . NT END=26624452;NT GT ./. 1 26624327 rs4290051 G A 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.2802,A/0.7198;PC=0.001;Gene=UBXN11/NM_001077262.1/0;CC=c.199+3090C>T;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.300+126C>T;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.201+126C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:20:0:0:9,14:306,419:28.22,0.00:28.86,0.00:-0.63,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:36.6,9.9:0,0:0,0:25,37:126,113:20,26:NM_145345.2(UBXN11) c.201+126C>T,-:0.75,-:NOT_FOUND,- 1 26624554 . C . . NT END=26627416;NT GT ./. 1 26627125 rs5773153 A ACT 8 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4323,ACT/0.5677;DB;DBA=NA;PAF=NA;NP=197;PC=0.009;Gene=UBXN11/NM_001077262.1/0;CC=c.199+290_199+291dupAG;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.199+290_199+291dupAG;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.100+1058_100+1059dupAG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,ACT:10:10:3:0:7,3:224,89:0.00,7.68:0.00,7.68:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:15.0,0.0:0,0:0,0:23,74:128,77:18,15:-,NM_145345.2(UBXN11) c.100+1059_100+1060insAG:-,NOT_FOUND:-,NOT_FOUND 1 26627283 rs4291487 A G 80 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.28,G/0.72;Gene=UBXN11/NM_001077262.1/0;CC=c.199+134T>C;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.199+134T>C;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.100+902T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:43:0:0:18,26:591,802:0.00,79.67:0.00,78.96:0.00,0.71:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.4,32.8:0,0:0,0:47,47:102,104:26,17:-,NM_145345.2(UBXN11) c.100+902T>C:-,0.76:-,NOT_FOUND 1 26627478 rs2276712 T C 206 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=T/0.4327,C/0.5673,G/.;PC=0.602;Gene=UBXN11/NM_001077262.1/0;CC=c.138A>G;ProtCh=p.S46=;VC=Silent;Gene=UBXN11/NM_183008.2/0;CC=c.138A>G;ProtCh=p.S46=;VC=Silent;Gene=UBXN11/NM_145345.2/1;CC=c.100+707A>G;VC=Intron;DM=UBXN11/SEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:159:110:0:0:71,1,87:2193,6,2887:205.89,-0.21,0.00:103.81,-0.10,0.00:102.07,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.1,58.0,7.1:0,0,0:0,0,0:87,14,87:60,137,61:31,0,37:NM_145345.2(UBXN11) c.100+707A>G,-:0.61,-:0.727583,- 1 26627545 . C . . NT END=26628184;NT GT ./. 1 26627801 rs3821368 G A 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2813,A/0.7187;Gene=UBXN11/NM_001077262.1/0;CC=c.101-286C>T;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.101-286C>T;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.100+384C>T;VC=Intron;DM=UBXN11/SEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:15:1:0:0:6,9:171,258:15.58,0.00:3.38,0.00:12.20,0.00:1.00,0.00:0.60,0.00:1.00,0.00:60,60:41.8,44.2:0,0:0,0:100,113:49,38:25,37:NM_145345.2(UBXN11) c.100+384C>T,-:0.75,-:NOT_FOUND,- 1 26628214 . C . . NT END=26629303;NT GT ./. 1 26629375 . A . . NT END=26644508;NT GT ./. 1 26629465 rs11803933 G C 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.4321,A/.,C/0.5679;Gene=UBXN11/NM_001077262.1/0;CC=c.-35-56C>G;VC=Intron;Gene=UBXN11/NM_183008.2/0;CC=c.-35-56C>G;VC=Intron;Gene=UBXN11/NM_145345.2/1;CC=c.-35-56C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:4:0:0:16,17:425,555:40.05,0.00:3.47,0.00:36.58,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:37.4,2.8:0,0:0,0:102,63:45,88:36,30:NM_145345.2(UBXN11) c.-35-56C>G,-:0.61,-:NOT_FOUND,- 1 26644563 . G . . NT END=26646661;NT GT ./. 1 26646471 rs4659427 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9369,T/0.0631;PC=0.001;Gene=CD52/NM_001803.2/1;CC=c.55-191C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,T:15:15:0:0:11,4:375,124:0.00,10.53:0.00,10.60:0.00,-0.07:0.00,0.76:0.00,0.76:0.00,0.51:60,60:12.6,34.2:0,0:0,0:21,17:117,133:18,14:-,NM_001803.2(CD52) c.55-191C>T:-,0.09:-,NOT_FOUND 1 26646611 rs111668601 TA T 38 idl,rn VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=47;Gene=CD52/NM_001803.2/1;CC=c.55-35delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:57:54:7:18:2,34,6,15:18,1061,215,544:-0.05,0.00,13.60,38.47:-0.36,0.00,10.79,32.40:0.31,0.00,2.81,6.07:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:77.0,23.9,14.0,26.7:0,0,1,3:0,0,0,0:56,51,51,50:94,100,100,95:10,25,10,36:-,NM_001803.2(CD52) c.55-50delA:-,NOT_FOUND:-,NOT_FOUND 1 26646726 rs1071849 A G 106 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.4193,G/0.5807;Gene=CD52/NM_001803.2/1;CC=c.119A>G;ProtCh=p.N40S;VC=Missense;DM=CD52/CD52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:95:56:0:0:59,36:1881,1162:0.00,105.96:0.00,37.15:0.00,68.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,79.1:0,0:0,0:96,72:55,78:28,27:-,NM_001803.2(CD52) c.119A>G (p.Asn40Ser):-,0.62:-,0.732047 1 26646730 rs17645 A G 101 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.4193,G/0.5807;Gene=CD52/NM_001803.2/1;CC=c.123A>G;ProtCh=p.I41M;VC=Missense;DM=CD52/CD52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:94:56:0:0:58,36:1787,1107:0.00,100.69:0.00,37.45:0.00,63.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,79.9:0,0:0,0:99,75:51,76:29,27:-,NM_001803.2(CD52) c.123A>G (p.Ile41Met):-,0.62:-,0.732047 1 26646794 . G . . NT END=26648458;NT GT ./. 1 26648328 rs12568163 G A 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7234,A/0.2766;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,G:13:13:0:0:8,5:253,156:25.34,0.00:25.55,0.00:-0.21,0.00:1.00,0.00:1.00,0.00:0.74,0.00:60,60:41.4,4.0:0,0:0,0:49,56:101,83:23,25:NM_145345.2(UBXN11) c.-367-u3572C>T,-:0.24,-:NOT_FOUND,- 1 26648548 . C . . NT END=26648654;NT GT ./. 1 26648551 rs11247913 G C 138 nt VT=SNV;PN=G;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.4403,C/0.5597;Gene=AIM1L/NM_001039775.3/1;CC=c.4898-4C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:104:78:0:0:1,45,58:13,1475,1738:-0.06,138.36,0.00:-0.17,72.84,0.00:0.11,65.52,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:70.0,38.8,14.8:0,0,0:0,0,0:20,93,83:131,49,67:0,30,28:NM_001039775.3(AIM1L) c.4898-4C>G,-:0.6,-:0.707904,- 1 26648815 . C . . NT END=26650642;NT GT ./. 1 26650550 rs11247915 C A 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.6901,A/0.3099;PC=0.007;Gene=AIM1L/NM_001039775.3/1;CC=c.4737+93G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:39:37:0:0:19,20:554,599:52.67,0.00:48.64,0.00:4.03,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.8,5.7:0,0:0,0:56,81:95,70:30,31:NM_001039775.3(AIM1L) c.4737+93G>T,-:0.34,-:NOT_FOUND,- 1 26650802 . C . . NT END=26654699;NT GT ./. 1 26650995 rs376559105 TCA T 14 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=160;Gene=AIM1L/NM_001039775.3/1;CC=c.4579-196_4579-195delTG;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:TCA,T:13:0:0:7:8,5:220,220:0.00,13.90:0.00,0.00:0.00,13.90:0.00,0.89:0.00,0.00:0.00,0.89:60,60:21.1,16.6:0,2:0,0:113,83:36,66:14,17:-,NM_001039775.3(AIM1L) c.4579-196_4579-195delTG:-,NOT_FOUND:-,NOT_FOUND 1 26654824 . C . . NT END=26655224;NT GT ./. 1 26654937 rs11589684 G C 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.3211,C/0.6789;Gene=AIM1L/NM_001039775.3/1;CC=c.4455-114C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:12:0:0:15,18:495,607:46.76,0.00:13.05,0.00:33.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,7.2:0,0:0,0:102,87:49,63:40,24:NM_001039775.3(AIM1L) c.4455-114C>G,-:0.7,-:NOT_FOUND,- 1 26655208 rs11247916 C T 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.5429,T/0.4571;Gene=AIM1L/NM_001039775.3/1;CC=c.4454+17G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:68:0:0:47,29:1490,938:0.00,85.68:0.00,58.89:0.00,26.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,39.9:0,0:0,0:39,42:112,106:22,25:-,NM_001039775.3(AIM1L) c.4454+17G>A:-,0.44:-,0.561356 1 26655365 . C . . NT END=26657979;NT GT ./. 1 26655462 rs12057290 C T 56 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.5433,T/0.4567;Gene=AIM1L/NM_001039775.3/1;CC=c.4315-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:11:0:0:20,19:665,587:0.00,55.98:0.00,11.55:0.00,44.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,80.1:0,0:0,0:107,113:43,38:37,26:-,NM_001039775.3(AIM1L) c.4315-98G>A:-,0.44:-,NOT_FOUND 1 26655507 rs11247917 C A 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.7175,A/0.2825;PC=0.003;Gene=AIM1L/NM_001039775.3/1;CC=c.4315-143G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:0:0:0:10,13:329,438:30.83,0.00:0.00,0.00:30.83,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:72.9,9.6:0,0:0,0:106,93:44,58:29,33:NM_001039775.3(AIM1L) c.4315-143G>T,-:0.3,-:NOT_FOUND,- 1 26657685 rs4659372 C T 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3255,T/0.6745;PC=0.001;Gene=AIM1L/NM_001039775.3/1;CC=c.4314+295G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:6:6:0:0:3,3:100,98:0.00,9.42:0.00,9.42:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:24.3,54.0:0,0:0,0:21,46:128,105:0,16:-,NM_001039775.3(AIM1L) c.4314+295G>A:-,0.7:-,NOT_FOUND 1 26658110 . C . . NT END=26662585;NT GT ./. 1 26662699 . C . . NT END=26662828;NT GT ./. 1 26662774 rs7517559 C T 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.3289,T/0.6711;Gene=AIM1L/NM_001039775.3/1;CC=c.4071+55G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:43:0:0:33,32:996,1034:0.00,99.10:0.00,47.05:0.00,52.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,45.9:0,0:0,0:68,64:83,87:39,42:-,NM_001039775.3(AIM1L) c.4071+55G>A:-,0.7:-,0.826763 1 26662862 . C . . NT END=26663096;NT GT ./. 1 26663063 rs71640320 C T 185 nt VT=SNV;PN=C;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.9876,T/0.01238;Gene=AIM1L/NM_001039775.3/1;CC=c.4038+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:124:103:0:0:1,63,60:10,1827,1934:-0.14,0.00,185.11:-0.05,0.00,121.42:-0.08,0.00,63.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:25.0,11.2,42.8:0,0,0:0,0,0:38,51,64:113,94,81:0,27,27:-,NM_001039775.3(AIM1L) c.4038+34G>A:-,0.02:-,0.027588 1 26663224 . C . . NT END=26663331;NT GT ./. 1 26663362 rs10751735 C T 244 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=203;DB;DBA=NA;PAF=C/0.5441,T/0.4559;Gene=AIM1L/NM_001039775.3/1;CC=c.3881G>A;ProtCh=p.S1294N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:203:137:0:0:117,3,83:3885,30,2631:0.00,-0.32,243.76:0.00,0.04,109.59:0.00,-0.36,134.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.5,77.0,40.8:0,0,0:0,0,0:70,77,59:72,74,85:37,8,36:-,NM_001039775.3(AIM1L) c.3881G>A (p.Ser1294Asn):-,0.45:-,0.560932 1 26663472 . C . . NT END=26663743;NT GT ./. 1 26663871 . C . . NT END=26664028;NT GT ./. 1 26664166 . C . . NT END=26664502;NT GT ./. 1 26664539 . C . . NT END=26664841;NT GT ./. 1 26664968 rs11247919 C T 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.7139,A/.,T/0.2861;PC=1.000;Gene=AIM1L/NM_001039775.3/1;CC=c.3345G>A;ProtCh=p.L1115=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:57:32:0:0:1,33,23:13,1071,731:0.04,0.00,67.57:-0.11,0.00,16.76:0.15,0.00,50.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:94.0,4.3,36.5:0,0,0:0,0,0:2,102,76:149,49,70:0,31,37:-,NM_001039775.3(AIM1L) c.3345G>A (p.(=)):-,0.3:-,0.420806 1 26664969 . C . . NT END=26665780;NT GT ./. 1 26665921 . C . . NT END=26669244;NT GT ./. 1 26665991 rs6675432 C G 65 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.5214,G/0.4786;Gene=AIM1L/NM_001039775.3/1;CC=c.3205-71G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:36:15:0:0:15,21:507,653:0.00,64.66:0.00,25.46:0.00,39.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,48.1:0,0:0,0:97,91:47,60:31,32:-,NM_001039775.3(AIM1L) c.3205-71G>C:-,0.48:-,NOT_FOUND 1 26666183 rs10902739 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.502,C/0.498;Gene=AIM1L/NM_001039775.3/1;CC=c.3205-263A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:5:1:0:0:3,2:90,68:8.97,0.00:-0.20,0.00:9.17,0.00:0.78,0.00:0.73,0.00:0.78,0.00:60,60:52.7,6.0:0,0:0,0:116,108:35,37:31,8:NM_001039775.3(AIM1L) c.3205-263A>G,-:0.46,-:NOT_FOUND,- 1 26666196 rs10902740 A C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.503,C/0.497;PC=0.001;Gene=AIM1L/NM_001039775.3/1;CC=c.3205-276T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C:4:1:0:0:2,2:68,68:0.00,6.55:0.00,-0.15:0.00,6.70:0.00,0.51:0.00,0.67:0.00,0.51:60,60:6.0,66.0:0,0:0,0:121,109:24,41:8,19:-,NM_001039775.3(AIM1L) c.3205-276T>G:-,0.46:-,NOT_FOUND 1 26669375 . C . . NT END=26669537;NT GT ./. 1 26669651 . C . . NT END=26669736;NT GT ./. 1 26669785 . C . . NT END=26670235;NT GT ./. 1 26671144 rs35433596 T C 226 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.9876,C/0.01238;Gene=AIM1L/NM_001039775.3/1;CC=c.2005A>G;ProtCh=p.I669V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:149:105:0:0:1,73,75:21,2354,2294:0.33,225.72,0.00:-0.13,140.84,0.00:0.46,84.88,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:92.0,44.9,13.8:0,0,0:0,0,0:39,60,73:111,91,76:0,34,38:NM_001039775.3(AIM1L) c.2005A>G (p.Ile669Val),-:0.02,-:NOT_FOUND,- 1 26671420 . T G 43 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=312;Gene=AIM1L/NM_001039775.3/1;CC=c.1729A>C;ProtCh=p.T577P;VC=Missense;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,C,G,T:312:227:0:0:5,3,43,261:56,60,755,7053:-0.82,1.20,43.34,0.00:0.01,0.73,34.65,0.00:-0.84,0.47,8.70,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:120.4,98.3,103.9,32.9:0,0,0,0:0,0,0,0:82,71,73,61:62,80,67,84:33,25,22,35:NM_001039775.3(AIM1L) c.1729A>C (p.Thr577Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 26671523 rs11579831 A G 22 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=160;DB;DBA=NA;PAF=NA;NP=5;Gene=AIM1L/NM_001039775.3/1;CC=c.1626T>C;ProtCh=p.F542=;VC=Silent;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:A,C,G,T:160:98:0:3:138,2,17,3:3786,24,371,43:0.00,-0.35,22.47,0.12:0.00,0.04,9.04,0.01:0.00,-0.40,13.42,0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:33.4,181.0,106.6,165.7:0,0,0,0:0,0,0,0:87,104,127,80:60,47,19,71:36,5,20,25:-,NM_001039775.3(AIM1L) c.1626T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 26671524 rs11579832 A G 33 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=160;DB;DBA=NA;PAF=A/0.8672,G/0.1328;NP=1;Gene=AIM1L/NM_001039775.3/1;CC=c.1625T>C;ProtCh=p.F542S;VC=Missense;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C,G:160:99:0:3:134,3,23:3733,47,497:0.00,0.56,32.59:0.00,-0.54,15.81:0.00,1.10,16.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.0,72.7,125.2:0,0,0:0,0,0:91,42,108:52,96,41:34,13,27:-,NM_001039775.3(AIM1L) c.1625T>C (p.Phe542Ser):-,NOT_FOUND:-,NOT_FOUND 1 26671533 rs11580306 T G 100 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=175;DB;DBA=NA;PAF=T/0.8688,G/0.1312;Gene=AIM1L/NM_001039775.3/1;CC=c.1616A>C;ProtCh=p.D539A;VC=Missense;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:175:108:0:3:2,1,45,127:24,9,1210,3622:-0.27,-0.28,99.63,0.00:-0.13,-0.16,52.63,0.00:-0.14,-0.12,47.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:117.5,73.0,134.3,33.7:0,0,0,0:0,0,0,0:81,68,19,90:69,59,108,53:54,0,15,39:NM_001039775.3(AIM1L) c.1616A>C (p.Asp539Ala),-:0.07,-:NOT_FOUND,- 1 26671544 rs11577542 G A 97 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=194;DB;DBA=NA;PAF=NA;Gene=AIM1L/NM_001039775.3/1;CC=c.1605C>T;ProtCh=p.P535=;VC=Silent;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:194:127:0:3:41,1,150,2:1203,10,4137,23:96.92,-0.27,0.00,-0.37:51.83,-0.12,0.00,-0.36:45.09,-0.15,0.00,-0.01:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:153.3,42.0,40.2,91.0:0,0,0,0:0,0,0,0:20,145,87,60:126,6,59,70:10,0,42,18:NM_001039775.3(AIM1L) c.1605C>T (p.(=)),-:0.05,-:NOT_FOUND,- 1 26671556 rs12119322 G A 127 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=194;DB;DBA=NA;PAF=NA;Gene=AIM1L/NM_001039775.3/1;CC=c.1593C>T;ProtCh=p.V531=;VC=Silent;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:194:130:0:3:54,1,139:1509,23,3940:127.09,0.30,0.00:70.48,-0.17,0.00:56.61,0.47,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:145.8,109.0,39.6:0,0,0:0,0,0:26,54,75:116,80,64:10,0,45:NM_001039775.3(AIM1L) c.1593C>T (p.(=)),-:0.19,-:NOT_FOUND,- 1 26671575 rs11579834 A G 212 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=212;DB;DBA=NA;PAF=A/0.4942,G/0.5058;Gene=AIM1L/NM_001039775.3/1;CC=c.1574T>C;ProtCh=p.F525S;VC=Missense;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:212:140:0:5:127,2,81,2:3471,21,2338,18:0.00,-0.29,212.03,-0.35:0.00,-0.15,109.65,-0.27:0.00,-0.14,102.38,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:34.6,131.0,125.8,60.5:0,0,3,0:0,0,0,0:57,85,41,30:79,46,99,120:36,40,16,16:-,NM_001039775.3(AIM1L) c.1574T>C (p.Phe525Ser):-,0.45:-,NOT_FOUND 1 26671578 rs11579835 A G 172 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=232;DB;DBA=NA;PAF=A/0.495,G/0.505;Gene=AIM1L/NM_001039775.3/1;CC=c.1571T>C;ProtCh=p.L524S;VC=Missense;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:232:152:0:0:161,70,1:4630,2002,9:0.00,172.07,-0.25:0.00,93.41,-0.14:0.00,78.66,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,3:56.8,123.1,57.0:5,3,0:0,0,0:46,44,50:90,97,56:35,13,0:-,NM_001039775.3(AIM1L) c.1571T>C (p.Leu524Ser):-,0.44:-,NOT_FOUND 1 26671594 . T C 75 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=274;Gene=AIM1L/NM_001039775.3/1;CC=c.1555A>G;ProtCh=p.S519G;VC=Missense;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:274:173:0:0:4,44,3,223:42,1048,51,6680:-0.81,74.73,0.41,0.00:-0.84,24.36,-0.62,0.00:0.04,50.37,1.02,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:47.2,140.8,57.3,63.5:0,0,0,3:0,0,0,0:29,23,33,56:106,125,98,80:8,9,10,29:NM_001039775.3(AIM1L) c.1555A>G (p.Ser519Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 26671595 . G A 76 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=277;Gene=AIM1L/NM_001039775.3/1;CC=c.1554C>T;ProtCh=p.S518=;VC=Silent;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:277:175:0:0:44,1,230,2:1069,25,6833,25:75.87,0.28,0.00,-0.44:23.19,-0.22,0.00,-0.39:52.68,0.50,0.00,-0.05:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:140.6,85.0,62.5,100.5:0,0,3,0:0,0,0,0:23,34,57,38:124,94,79,112:8,0,28,22:NM_001039775.3(AIM1L) c.1554C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 26671625 . A G 76 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=318;NP=8;Gene=AIM1L/NM_001039775.3/1;CC=c.1524T>C;ProtCh=p.S508=;VC=Silent;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:318:191:0:0:263,6,45,4:7730,101,1094,49:0.00,2.46,75.68,-0.66:0.00,0.19,31.62,-0.60:0.00,2.27,44.06,-0.06:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:59.0,72.5,150.1,92.5:0,0,0,0:0,0,0,0:66,49,47,62:63,83,96,89:27,38,9,19:-,NM_001039775.3(AIM1L) c.1524T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 26671658 rs111981367 G A 94 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=325;DB;DBA=NA;PAF=NA;NP=116;Gene=AIM1L/NM_001039775.3/1;CC=c.1491C>T;ProtCh=p.V497=;VC=Silent;DM=AIM1L/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:325:192:0:0:49,10,263,3:1287,193,7839,30:93.66,6.44,0.00,-0.70:37.82,-1.75,0.00,-0.29:55.84,8.18,0.00,-0.41:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:142.6,110.7,50.7,125.0:0,0,0,0:0,0,0,0:79,60,83,64:68,78,54,71:10,24,31,4:NM_001039775.3(AIM1L) c.1491C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 26671690 rs112674559 A G 146 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=301;DB;DBA=NA;PAF=NA;NP=73;Gene=AIM1L/NM_001039775.3/1;CC=c.1459T>C;ProtCh=p.S487P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:301:155:0:0:210,18,71,2:5533,204,1805,19:0.00,3.69,145.59,-0.51:0.00,2.44,28.86,-0.28:0.00,1.25,116.74,-0.22:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:33.1,84.3,126.3,78.0:0,0,0,0:0,0,0,0:88,85,86,60:52,65,51,86:35,16,33,11:-,NM_001039775.3(AIM1L) c.1459T>C (p.Ser487Pro):-,NOT_FOUND:-,NOT_FOUND 1 26671719 rs201245727 C T 88 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=291;DB;DBA=NA;PAF=NA;NP=3;Gene=AIM1L/NM_001039775.3/1;CC=c.1430G>A;ProtCh=p.R477Q;VC=Missense;DM=AIM1L/Crystall GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:291:147:0:0:243,3,45:6770,27,1201:0.00,-0.81,87.77:0.00,-0.18,15.86:0.00,-0.63,71.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:34.5,137.3,138.4:0,0,0:0,0,0:85,117,134:56,21,13:37,23,14:-,NM_001039775.3(AIM1L) c.1430G>A (p.Arg477Gln):-,NOT_FOUND:-,NOT_FOUND 1 26673095 rs181557677 G A 210 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.9982,A/0.001797;NP=29;PC=1.000;Gene=AIM1L/NM_001039775.3/1;CC=c.54C>T;ProtCh=p.A18=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:149:97:0:0:69,80:2218,2621:209.96,0.00:87.69,0.00:122.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,9.0:0,0:0,0:66,77:83,73:37,34:NM_001039775.3(AIM1L) c.54C>T (p.(=)),-:0.0018,-:0.008996,- 1 26673149 . G . . NT END=26688141;NT GT ./. 1 26688514 . C . . NT END=26688606;NT GT ./. 1 26688593 rs199545412 TACCCATGACCC T 139 nt VT=DEL;SST=Single;DP=159;DB;DBA=NA;PAF=TACCCATGACCC/0.9619,T/0.03814;NP=222;Gene=ZNF683/NM_001114759.2/0;CC=c.1144-91_1144-81delGGGTCATGGGT;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.1203+3_1203+13delGGGTCATGGGT;VC=Intergenic;Gene=ZNF683/NM_173574.3/0;CC=c.1144-91_1144-81delGGGTCATGGGT;VC=Intron;DM=ZNF683/zf-met;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TACCCATGACCC,T:159:75:0:52:1,106,52:9,3167,1574:-0.23,0.00,138.78:-0.08,0.00,64.01:-0.15,0.00,74.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:209.0,14.4,7.1:0,0,0:0,0,0:97,95,90:52,51,57:0,39,26:-,NM_001114759.1(ZNF683) c.1144-91_1144-81delGGGTCATGGGT:-,0.02:-,0.03475 1 26688667 . C . . NT END=26689516;NT GT ./. 1 26689220 rs12030833 A G 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6536,G/0.3464;Gene=ZNF683/NM_001114759.2/0;CC=c.1143+297T>C;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.1143+297T>C;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.1143+297T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:4:0:0:1,3:33,102:0.00,10.65:0.00,10.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,38.3:0,0:0,0:90,48:60,103:0,10:-,NM_001114759.1(ZNF683) c.1143+297T>C:-,0.31:-,NOT_FOUND 1 26689646 . C . . NT END=26691022;NT GT ./. 1 26690745 rs7531698 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2308,A/0.7692;Gene=ZNF683/NM_001114759.2/0;CC=c.1014+278C>T;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.1014+278C>T;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.1014+278C>T;VC=Intron;DM=ZNF683/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:4:4:0:0:3,1:104,30:10.85,0.00:8.88,0.00:1.98,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:82.3,0.0:0,0:0,0:22,7:128,144:6,0:NM_001114759.1(ZNF683) c.1014+278C>T,-:0.74,-:NOT_FOUND,- 1 26690864 rs7534104 G T 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.2302,T/0.7698;Gene=ZNF683/NM_001114759.2/0;CC=c.1014+159C>A;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.1014+159C>A;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.1014+159C>A;VC=Intron;DM=ZNF683/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:G,T:12:12:0:0:4,8:127,253:0.00,25.80:0.00,25.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.5,65.1:0,0:0,0:94,45:56,104:26,27:-,NM_001114759.1(ZNF683) c.1014+159C>A:-,0.74:-,NOT_FOUND 1 26691718 . C . . NT END=26694083;NT GT ./. 1 26694245 rs10794531 T C 140 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=T/0.507,C/0.493;Gene=ZNF683/NM_001114759.2/0;CC=c.158A>G;ProtCh=p.H53R;VC=Missense;Gene=ZNF683/NM_001307925.1/1;CC=c.158A>G;ProtCh=p.H53R;VC=Missense;Gene=ZNF683/NM_173574.3/0;CC=c.158A>G;ProtCh=p.H53R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:110:55:0:0:50,1,59:1493,12,1745:140.35,-0.09,0.00:57.19,-0.07,0.00:83.16,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:67.3,112.0,14.8:0,0,0:0,0,0:74,72,99:74,79,51:30,0,28:NM_001114759.1(ZNF683) c.158A>G (p.His53Arg),-:0.45,-:0.363154,- 1 26694260 rs10794532 T C 161 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.6554,A/.,C/0.3446,G/.;PC=0.030;Gene=ZNF683/NM_001114759.2/0;CC=c.143A>G;ProtCh=p.D48G;VC=Missense;Gene=ZNF683/NM_001307925.1/1;CC=c.143A>G;ProtCh=p.D48G;VC=Missense;Gene=ZNF683/NM_173574.3/0;CC=c.143A>G;ProtCh=p.D48G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:109:45:0:0:52,1,56:1689,10,1692:161.28,-0.13,0.00:58.09,-0.05,0.00:103.19,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.1,112.0,14.4:0,0,0:0,0,0:84,87,103:62,64,42:31,0,29:NM_001114759.1(ZNF683) c.143A>G (p.Asp48Gly),-:0.31,-:0.198477,- 1 26694289 . C . . NT END=26694948;NT GT ./. 1 26695077 . C . . NT END=26697123;NT GT ./. 1 26695295 rs6694289 G A 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.484,A/0.516;PC=0.006;Gene=ZNF683/NM_001114759.2/0;CC=c.-14-219C>T;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.-11-222C>T;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.-11-222C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:A,G:9:0:0:0:5,4:175,131:17.20,0.00:0.00,0.00:17.20,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:36.4,0.0:0,0:0,0:100,116:50,34:25,14:NM_001114759.1(ZNF683) c.-14-219C>T,-:0.46,-:NOT_FOUND,- 1 26697166 rs11548246 G A 120 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.6573,A/0.3427;PC=0.002;Gene=ZNF683/NM_001114759.2/0;CC=c.-15+1994C>T;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.-12+1994C>T;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.-12+1994C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:61:0:0:37,36:1246,1137:120.26,0.00:72.30,0.00:47.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,6.9:0,0:0,0:60,48:80,77:33,28:NM_001114759.1(ZNF683) c.-15+1994C>T,-:0.32,-:NOT_FOUND,- 1 26697243 . G . . NT END=26699025;NT GT ./. 1 26697382 rs72649379 G A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7362,A/0.2638;Gene=ZNF683/NM_001114759.2/0;CC=c.-15+1778C>T;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.-12+1778C>T;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.-12+1778C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:13:0:0:0:8,5:201,159:20.08,0.00:0.00,0.00:20.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:55.4,19.0:0,0:0,0:126,104:20,47:21,26:NM_001114759.1(ZNF683) c.-15+1778C>T,-:0.24,-:NOT_FOUND,- 1 26697398 rs61776528 T C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.748,C/0.252;Gene=ZNF683/NM_001114759.2/0;CC=c.-15+1762A>G;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.-12+1762A>G;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.-12+1762A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:C,T:9:0:0:0:4,5:114,137:10.63,0.00:0.00,0.00:10.63,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:76.5,19.0:0,0:0,0:113,120:38,31:0,26:NM_001114759.1(ZNF683) c.-15+1762A>G,-:0.23,-:NOT_FOUND,- 1 26698884 rs11247936 T C 79 nt VT=SNV;PN=T;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.6552,C/0.3448;Gene=ZNF683/NM_001114759.2/0;CC=c.-15+276A>G;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.-12+276A>G;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.-12+276A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:48:0:0:24,25:819,779:78.62,0.00:78.91,0.00:-0.29,0.00:1.00,0.00:1.00,0.00:0.66,0.00:60,60:65.7,5.4:0,0:0,0:58,49:92,102:28,23:NM_001114759.1(ZNF683) c.-15+276A>G,-:0.31,-:NOT_FOUND,- 1 26698938 rs6703878 A G 130 nt VT=SNV;PN=A;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.4836,G/0.5164;Gene=ZNF683/NM_001114759.2/0;CC=c.-15+222T>C;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.-12+222T>C;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.-12+222T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:81:0:0:42,42:1325,1352:0.00,129.91:0.00,114.36:0.00,15.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,51.4:0,0:0,0:49,48:102,103:33,34:-,NM_001114759.1(ZNF683) c.-15+222T>C:-,0.46:-,NOT_FOUND 1 26699103 rs11584185 T C 286 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=190;DB;DBA=NA;PAF=T/0.5236,C/0.4764;Gene=ZNF683/NM_001114759.2/0;CC=c.-15+57A>G;VC=Intron;Gene=ZNF683/NM_001307925.1/1;CC=c.-12+57A>G;VC=Intron;Gene=ZNF683/NM_173574.3/0;CC=c.-12+57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:190:115:0:0:93,97:2989,3151:286.06,0.00:134.64,0.00:151.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.0,9.5:0,0:0,0:83,98:63,51:37,34:NM_001114759.1(ZNF683) c.-15+57A>G,-:0.43,-:NOT_FOUND,- 1 26699157 rs11247937 T C 266 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=169;DB;DBA=NA;PAF=T/0.4844,C/0.5156;Gene=ZNF683/NM_001114759.2/0;CC=c.-15+3A>G;VC=Intergenic;Gene=ZNF683/NM_001307925.1/1;CC=c.-12+3A>G;VC=Intergenic;Gene=ZNF683/NM_173574.3/0;CC=c.-12+3A>G;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:169:122:0:0:84,85:2764,2813:265.61,0.00:142.34,0.00:123.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.5,6.1:0,0:0,0:61,69:81,77:35,37:NM_001114759.1(ZNF683) c.-15+3A>G,-:0.46,-:NOT_FOUND,- 1 26699286 . G . . NT END=26700768;NT GT ./. 1 26700631 rs12079255 A G 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.7161,G/0.2839 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:42:0:0:26,16:811,557:0.00,51.22:0.00,47.67:0.00,3.55:0.00,1.00:0.00,1.00:0.00,0.78:60,60:11.0,37.6:0,0:0,0:58,61:93,89:36,30:-,NM_001114759.1(ZNF683) c.-121-u1365T>C:-,0.25:-,NOT_FOUND 1 26700782 . C . . NT END=26737382;NT GT ./. 1 26700795 rs7520030 T C 480 nt VT=SNV;PN=C;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.007588,C/0.9924;NP=264 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:132:84:0:0:132:4176:480.39:195.82:284.57:1.00:1.00:1.00:60:38.5:1:0:79:62:25:NM_001114759.1(ZNF683) c.-121-u1529A>G,NM_001114759.1(ZNF683) c.-121-u1529A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 26701185 rs12037508 A G 98 nt VT=SNV;PN=A;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.7276,G/0.2724;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:42:0:0:42,31:1411,1049:0.00,98.09:0.00,32.39:0.00,65.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,49.3:0,0:0,0:85,92:64,58:28,35:-,NM_001114759.1(ZNF683) c.-121-u1919T>C:-,0.23:-,NOT_FOUND 1 26701259 rs12037543 A T 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.7206,G/.,T/0.2794 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:14:0:0:23,23:754,752:0.00,72.32:0.00,10.56:0.00,61.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,56.6:0,0:0,0:110,108:41,43:18,27:-,NM_001114759.1(ZNF683) c.-121-u1993T>A:-,0.24:-,NOT_FOUND 1 26737414 . G . . NT END=26737876;NT GT ./. 1 26738074 . G . . NT END=26751793;NT GT ./. 1 26751979 . G . . NT END=26752732;NT GT ./. 1 26752129 rs35015532 A G 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8035,G/0.1965;Gene=LIN28A/NM_024674.4/1;CC=c.413+151A>G;VC=Intron;DM=LIN28A/zf-CCHC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:0:0:0:9,6:254,209:0.00,19.39:0.00,0.00:0.00,19.39:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.0,34.8:0,0:0,0:91,103:58,48:34,12:-,NM_024674.4(LIN28A) c.413+151A>G:-,0.2:-,NOT_FOUND 1 26752950 . G . . NT END=26759436;NT GT ./. 1 26752992 rs4659441 T C 75 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1567,C/0.8433;PC=0.004;Gene=LIN28A/NM_024674.4/1;CC=c.*43T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:7:0:0:21:647:74.71:13.37:61.34:1.00:1.00:1.00:60:34.4:0:0:134:17:11:NM_024674.4(LIN28A) c.*43T>C,NM_024674.4(LIN28A) c.*43T>C:0.84,0.84:0.818273,0.818273 1 26759149 rs3811461 A C,G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5427,G/0.4573 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:C,G:4:4:0:0:1,3:10,82:0.88,9.25:0.88,9.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:79.0,27.3:0,0:0,0:55,25:96,126:0,13:NM_024887.3(DHDDS) c.-55-233A>C,NM_024887.3(DHDDS) c.-55-233A>G:NOT_FOUND,0.42:NOT_FOUND,NOT_FOUND 1 26759500 . G . . NT END=26764658;NT GT ./. 1 26764776 . G . . NT END=26769221;NT GT ./. 1 26769365 . G . . NT END=26772806;NT GT ./. 1 26769543 rs79901596 C CTTTTTT 68 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.1707,CTTTTT/.,CTTTTTT/0.8293,CTTTTTTT/.;DB;DBA=NA;PAF=C/0.1707,CTTTTT/.,CTTTTTT/0.8293;NP=1;NP=89;PC=0.001;Gene=DHDDS/NM_001243564.1/0;CC=c.323+184_323+185insTTTTTT;VC=Intron;Gene=DHDDS/NM_001243565.1/0;CC=c.323+184_323+185insTTTTTT;VC=Intron;Gene=DHDDS/NM_024887.3/1;CC=c.323+184_323+185insTTTTTT;VC=Intron;Gene=DHDDS/NM_205861.2/0;CC=c.323+184_323+185insTTTTTT;VC=Intron;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:C,CTTTTTT:29:0:23:0:7,22:216,683:0.00,68.49:0.00,0.00:0.00,68.49:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.9,15.5:0,1:0,0:144,80:6,71:2,32:-,NM_024887.3(DHDDS) c.323+179_323+180insTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 26772924 . G . . NT END=26774049;NT GT ./. 1 26774152 . G . . NT END=26784281;NT GT ./. 1 26777895 rs369892696 ATGTGTGTG A 9 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;Gene=DHDDS/NM_001243564.1/0;CC=c.440+5012_440+5019delGTGTGTGT;VC=Intron;Gene=DHDDS/NM_001243565.1/0;CC=c.425+3784_425+3791delGTGTGTGT;VC=Intron;Gene=DHDDS/NM_024887.3/1;CC=c.542+3784_542+3791delGTGTGTGT;VC=Intron;Gene=DHDDS/NM_205861.2/0;CC=c.542+3784_542+3791delGTGTGTGT;VC=Intron;DM=DHDDS/Prenyltransf;DM=DHDDS/Prenyltransf;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:ATGTGTGTG,A:7:8:0:5:4,3:117,165:0.00,9.20:0.00,4.32:0.00,4.87:0.00,0.64:0.00,0.94:0.00,0.81:60,60:5.2,18.0:0,2:0,0:137,26:13,124:6,4:-,NM_024887.3(DHDDS) c.542+3745_542+3752delTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 26784397 . G . . NT END=26786527;NT GT ./. 1 26786627 rs3816539 G A 61 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.5447,A/0.4553;PC=0.940;Gene=DHDDS/NM_001243564.1/0;CC=c.655G>A;ProtCh=p.V219M;VC=Missense;Gene=DHDDS/NM_001243565.1/0;CC=c.640G>A;ProtCh=p.V214M;VC=Missense;Gene=DHDDS/NM_024887.3/1;CC=c.757G>A;ProtCh=p.V253M;VC=Missense;Gene=DHDDS/NM_205861.2/0;CC=c.757G>A;ProtCh=p.V253M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:29:0:0:21,30:662,967:61.19,0.00:19.78,0.00:41.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.3,9.4:0,0:0,0:89,89:56,59:25,26:NM_024887.3(DHDDS) c.757G>A (p.Val253Met),-:0.42,-:0.287483,- 1 26786636 . G . . NT END=26795382;NT GT ./. 1 26795623 . A . . NT END=26799103;NT GT ./. 1 26799119 . G . . NT END=26799973;NT GT ./. 1 26800019 . G . . NT END=26800193;NT GT ./. 1 26800224 . G . . NT END=26800575;NT GT ./. 1 26800627 . G . . NT END=26801062;NT GT ./. 1 26800849 rs2445635 A G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4507,G/0.5493;Gene=HMGN2/NM_005517.3/1;CC=c.142-214A>G;VC=Intron;DM=HMGN2/HMG14_17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,G:9:6:0:0:5,4:146,123:0.00,11.52:0.00,9.01:0.00,2.51:0.00,0.85:0.00,0.96:0.00,0.84:60,60:3.8,48.8:0,0:0,0:38,84:113,64:27,58:-,NM_005517.3(HMGN2) c.142-214A>G:-,0.51:-,NOT_FOUND 1 26801159 . G . . NT END=26801603;NT GT ./. 1 26801640 . A . . NT END=26856411;NT GT ./. 1 26801737 . CT C 16 rn VT=DEL;SST=Single;DP=18;NP=7;PC=0.848;Gene=HMGN2/NM_005517.3/1;CC=c.*113delT;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:CT,I,C:18:3:1:6:11,1,6:363,33,179:0.00,2.25,15.96:0.00,-0.04,2.64:0.00,2.29,13.33:0.00,0.00,0.94:0.00,0.00,0.73:0.00,0.00,0.99:60,60,68:5.9,0.0,51.3:0,0,0:0,0,0:118,83,104:33,67,43:25,0,16:-,NM_005517.3(HMGN2) c.*99T[14]:-,NOT_FOUND:-,NOT_FOUND 1 26846195 rs4970514 C T 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5377,T/0.4623;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:14:0:0:17,10:493,325:0.00,29.56:0.00,10.70:0.00,18.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,39.1:0,0:0,0:93,130:58,21:44,17:-,chr1 g.26846194C>T (intergenic):-,0.43:-,NOT_FOUND 1 26856462 rs11800553 T G 330 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.0633,G/0.9367;PC=0.981;Gene=RPS6KA1/NM_002953.3/1;CC=c.51T>G;ProtCh=p.P17=;VC=Silent;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:90:58:0:0:1,88,1:28,2904,11:1.33,329.95,0.00:-0.00,137.66,0.00:1.34,192.28,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:28.0,41.6,219.0:0,0,0:0,0,0:147,80,59:4,66,92:0,34,0:NM_002953.3(RPS6KA1) c.51T>G (p.(=)),NM_002953.3(RPS6KA1) c.51T>G (p.(=)):0.93,0.93:NOT_FOUND,NOT_FOUND 1 26856475 . G . . NT END=26857235;NT GT ./. 1 26856671 rs12057924 C G 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.1238,G/0.8762;PC=0.001;Gene=RPS6KA1/NM_002953.3/1;CC=c.63+197C>G;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:344:40.10:0.00:40.10:1.00:0.00:1.00:60:43.2:0:0:85:66:22:NM_002953.3(RPS6KA1) c.63+197C>G,NM_002953.3(RPS6KA1) c.63+197C>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 26857394 . G . . NT END=26863415;NT GT ./. 1 26863461 . G . . NT END=26869602;NT GT ./. 1 26869610 rs921893 G A 96 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.275,A/0.725;Gene=RPS6KA1/NM_002953.3/1;CC=c.109-3748G>A;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:78:66:0:0:30,1,47:1040,6,1546:95.97,-0.22,0.00:46.01,-0.18,0.00:49.96,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.0,13.0,4.6:0,0,0:0,0,0:44,59,50:101,92,97:23,0,25:NM_001006665.1(RPS6KA1) c.-49-u2733G>A,-:0.72,-:NOT_FOUND,- 1 26869713 . G . . NT END=26872342;NT GT ./. 1 26872527 . G . . NT END=26873357;NT GT ./. 1 26872554 rs12723936 A G 130 nt VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.4944,G/0.5056;Gene=RPS6KA1/NM_002953.3/1;CC=c.109-804A>G;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.135+28A>G;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:29:0:0:28,40:871,1311:0.00,130.09:0.00,29.86:0.00,100.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,41.4:0,0:0,0:104,101:38,43:12,24:-,NM_001006665.1(RPS6KA1) c.135+28A>G:-,0.46:-,0.321286 1 26873245 rs2278978 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2181,G/0.7819;Gene=RPS6KA1/NM_002953.3/1;CC=c.109-113A>G;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.136-113A>G;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:A,G:10:10:0:0:5,5:144,170:0.00,16.38:0.00,16.38:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:40.0,37.4:0,0:0,0:28,63:123,88:25,39:-,NM_001006665.1(RPS6KA1) c.136-113A>G:-,0.78:-,NOT_FOUND 1 26873475 . G . . NT END=26873679;NT GT ./. 1 26873661 rs369109942 TC T 111 nt VT=DEL;SST=Single;DP=69;DB;DBA=NA;PAF=TC/0.9966,T/0.003395;NP=70;Gene=RPS6KA1/NM_002953.3/1;CC=c.226-17delC;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.253-17delC;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:69:55:0:36:33,36:1026,1148:0.00,111.23:0.00,77.87:0.00,33.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,5.8:0,0:0,0:44,58:106,79:33,27:-,NM_001006665.1(RPS6KA1) c.253-18delC:-,NOT_FOUND:-,0.008466 1 26873762 . G . . NT END=26877887;NT GT ./. 1 26877708 rs2278979 G A 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5777,A/0.4223;PC=0.001;Gene=RPS6KA1/NM_002953.3/1;CC=c.308-180G>A;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.335-180G>A;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:7,9:219,305:20.48,0.00:20.48,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:40.0,4.3:0,0:0,0:123,58:28,92:20,16:NM_001006665.1(RPS6KA1) c.335-180G>A,-:0.4,-:NOT_FOUND,- 1 26877969 . G . . NT END=26878134;NT GT ./. 1 26878215 . G . . NT END=26879881;NT GT ./. 1 26879792 rs4970489 T C 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.2772,C/0.7228;Gene=RPS6KA1/NM_002953.3/1;CC=c.469-90T>C;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.496-90T>C;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:13,7:379,241:38.43,0.00:38.43,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.5,28.7:0,0:0,0:67,47:84,103:40,25:NM_001006665.1(RPS6KA1) c.496-90T>C,-:0.72,-:NOT_FOUND,- 1 26879920 rs4970490 T C 153 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.008786,C/0.9912,G/.;NP=3482;Gene=RPS6KA1/NM_002953.3/1;CC=c.507T>C;ProtCh=p.A169=;VC=Silent;Gene=RPS6KA1/NM_001006665.1/0;CC=c.534T>C;ProtCh=p.A178=;VC=Silent;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:C:45:31:0:0:45:1315:152.70:73.64:79.06:1.00:1.00:1.00:60:37.3:0:0:76:59:27:NM_001006665.1(RPS6KA1) c.=,NM_001006665.1(RPS6KA1) c.=:0.99,0.99:0.991927,0.991927 1 26879989 . G . . NT END=26880704;NT GT ./. 1 26880743 . G . . NT END=26881086;NT GT ./. 1 26880989 rs873151 T C 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.5403,C/0.4597;PC=0.043;Gene=RPS6KA1/NM_002953.3/1;CC=c.614-98T>C;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.641-98T>C;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:47:0:0:28,27:890,885:85.78,0.00:65.39,0.00:20.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,8.4:0,0:0,0:45,23:100,125:22,19:NM_001006665.1(RPS6KA1) c.641-98T>C,-:0.43,-:0.272011,- 1 26881230 . G . . NT END=26881641;NT GT ./. 1 26881713 . G . . NT END=26882027;NT GT ./. 1 26881806 rs897641 C A 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.4902,A/0.5098;Gene=RPS6KA1/NM_002953.3/1;CC=c.827+94C>A;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.854+94C>A;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:30:11:0:0:16,14:491,458:47.72,0.00:18.66,0.00:29.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,4.1:0,0:0,0:56,129:94,21:41,16:NM_001006665.1(RPS6KA1) c.854+94C>A,-:0.47,-:NOT_FOUND,- 1 26882117 . G . . NT END=26883144;NT GT ./. 1 26883210 . G . . NT END=26883488;NT GT ./. 1 26883511 rs2229712 A C 71 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.8391,C/0.1609;PC=1.000;Gene=RPS6KA1/NM_002953.3/1;CC=c.1004A>C;ProtCh=p.K335T;VC=Missense;Gene=RPS6KA1/NM_001006665.1/0;CC=c.1031A>C;ProtCh=p.K344T;VC=Missense;DM=RPS6KA1/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:54:43:0:0:31,23:1031,760:0.00,70.98:0.00,40.69:0.00,30.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,39.8:0,0:0,0:77,80:73,71:28,28:-,NM_001006665.1(RPS6KA1) c.1031A>C (p.Lys344Thr):-,0.17:-,0.173766 1 26883592 . G . . NT END=26885297;NT GT ./. 1 26885429 . G . . NT END=26887216;NT GT ./. 1 26887150 rs34062688 A G 81 nt VT=SNV;PN=T;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.4886,G/0.5114;PC=0.001;Gene=RPS6KA1/NM_002953.3/1;CC=c.1216-67A>G;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.1243-67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:57:45:0:0:28,28,1:923,846,12:0.00,81.07,0.03:0.00,53.12,0.09:0.00,27.95,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:2.4,53.3,84.0:0,0,0:0,0,0:38,58,33:98,92,116:26,22,0:-,NM_001006665.1(RPS6KA1) c.1243-67A>G:-,0.47:-,NOT_FOUND 1 26887343 . G . . NT END=26887535;NT GT ./. 1 26887592 rs1064196 T C 72 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.4896,C/0.5104;Gene=RPS6KA1/NM_002953.3/1;CC=c.1398T>C;ProtCh=p.Y466=;VC=Silent;Gene=RPS6KA1/NM_001006665.1/0;CC=c.1425T>C;ProtCh=p.Y475=;VC=Silent;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:27:0:0:23,22:747,717:72.14,0.00:37.22,0.00:34.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,6.3:0,0:0,0:94,65:51,79:19,28:NM_001006665.1(RPS6KA1) c.1425T>C (p.(=)),-:0.47,-:0.330617,- 1 26887626 . G . . NT END=26887995;NT GT ./. 1 26888155 . G . . NT END=26897939;NT GT ./. 1 26898102 . G . . NT END=26898339;NT GT ./. 1 26898142 rs188158 A G 137 nt VT=SNV;PN=A;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.4615,C/.,G/0.5385;Gene=RPS6KA1/NM_002953.3/1;CC=c.1752+41A>G;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.1779+41A>G;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:38:0:0:37,43:1117,1403:0.00,136.86:0.00,52.62:0.00,84.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,40.3:0,0:0,0:106,94:45,56:29,32:-,NM_001006665.1(RPS6KA1) c.1779+41A>G:-,0.49:-,0.348431 1 26898417 . G . . NT END=26898666;NT GT ./. 1 26898785 . G . . NT END=26899714;NT GT ./. 1 26899444 rs190737 C A,T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3049,A/0.6951;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,T:5:5:0:0:4,1:138,11:15.32,0.89:15.32,0.89:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:39.2,90.0:0,0:0,0:72,52:78,98:23,0:NM_001006665.1(RPS6KA1) c.1975-271C>A,NM_001006665.1(RPS6KA1) c.1975-271C>T:0.67,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 26899671 rs2296399 C G 105 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.8077,G/0.1923;Gene=RPS6KA1/NM_002953.3/1;CC=c.1948-44C>G;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.1975-44C>G;VC=Intron;DM=RPS6KA1/Pkinase;DM=RPS6KA1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:59:45:0:0:1,26,32:21,850,1072:0.67,0.00,105.10:0.76,0.00,69.43:-0.09,0.00,35.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.0,5.7,43.1:0,0,0:0,0,0:92,64,42:57,82,103:0,28,23:-,NM_001006665.1(RPS6KA1) c.1975-44C>G:-,0.15:-,0.12179 1 26899853 . G . . NT END=26900569;NT GT ./. 1 26900428 rs397979724 C CA 14 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=72;PC=0.004;Gene=RPS6KA1/NM_002953.3/1;CC=c.2086-129_2086-128insA;VC=Intron;Gene=RPS6KA1/NM_001006665.1/0;CC=c.2113-129_2113-128insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,CA,D:17:18:6:1:11,5,1:328,185,31:0.00,13.85,2.05:0.00,13.85,2.05:0.00,0.00,0.00:0.00,0.87,0.00:0.00,0.87,0.00:0.00,0.00,0.00:60,60,60:37.6,6.4,0.0:0,1,0:0,0,0:50,52,126:100,99,24:23,27,0:-,NM_001006665.1(RPS6KA1) c.2113-142_2113-141insA:-,NOT_FOUND:-,NOT_FOUND 1 26900693 . G . . NT END=27021769;NT GT ./. 1 26900735 rs282179 C G 200 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.2141,G/0.7859;PC=0.051;Gene=RPS6KA1/NM_002953.3/1;CC=c.*43C>G;VC=3UTR;Gene=RPS6KA1/NM_001006665.1/0;CC=c.*43C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:G:51:21:0:0:51:1754:199.70:52.15:147.55:1.00:1.00:1.00:60:40.2:0:0:106:35:21:NM_001006665.1(RPS6KA1) c.*43C>G,NM_001006665.1(RPS6KA1) c.*43C>G:0.77,0.77:0.757189,0.757189 1 26990937 rs56884303 AATGTGTGTGTGTGTGT A 20 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=122;PC=0.007;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:7:6:208:19.96:6.62:13.34:1.00:1.00:1.00:70:8.3:1:0:81:68:26:chr1 g.26990938_26990953delATGTGTGTGTGTGTGT (intergenic),chr1 g.26990938_26990953delATGTGTGTGTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 27021684 rs6598860 G A 95 nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.7953,A/0.2047;PC=0.681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:60:58:0:0:33,1,26:972,12,831:95.22,0.05,0.00:86.58,-0.17,0.00:8.64,0.21,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.6,12.0,6.5:0,0,0:0,0,0:46,49,29:103,102,114:35,0,23:NM_006015.4(ARID1A) c.-373-u838G>A,-:0.19,-:NOT_FOUND,- 1 27022444 . c . . NT END=27022820;NT GT ./. 1 27023444 . C T 370 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=258;PC=1.000;Gene=ARID1A/NM_006015.4/1;CC=c.550C>T;ProtCh=p.L184=;VC=Silent;Gene=ARID1A/NM_139135.2/0;CC=c.550C>T;ProtCh=p.L184=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:258:184:0:0:131,2,125:4380,23,3870:0.00,-0.21,369.53:0.00,-0.26,207.87:0.00,0.05,161.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.4,149.5,45.7:0,0,0:0,0,0:48,93,61:98,38,85:28,26,31:-,NM_006015.4(ARID1A) c.550C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 27024032 . G . . NT END=27056141;NT GT ./. 1 27056355 . G . . NT END=27057642;NT GT ./. 1 27058096 . G . . NT END=27059166;NT GT ./. 1 27059284 . G . . NT END=27087346;NT GT ./. 1 27087588 . G . . NT END=27087874;NT GT ./. 1 27087965 . G . . NT END=27088642;NT GT ./. 1 27088811 . G . . NT END=27089463;NT GT ./. 1 27089777 . G . . NT END=27092711;NT GT ./. 1 27092858 . G . . NT END=27092947;NT GT ./. 1 27093058 . G . . NT END=27094280;NT GT ./. 1 27094491 . G . . NT END=27097609;NT GT ./. 1 27097818 . G . . NT END=27098990;NT GT ./. 1 27099124 . G . . NT END=27099302;NT GT ./. 1 27099479 . G . . NT END=27099836;NT GT ./. 1 27099988 . G . . NT END=27100070;NT GT ./. 1 27100209 . G . . NT END=27100292;NT GT ./. 1 27100390 . G . . NT END=27100819;NT GT ./. 1 27101712 . G . . NT END=27102067;NT GT ./. 1 27102199 . G . . NT END=27105513;NT GT ./. 1 27107248 . C . . NT END=27117306;NT GT ./. 1 27117385 . G . . NT END=27120603;NT GT ./. 1 27121726 . G . . NT END=27124053;NT GT ./. 1 27124336 . C . . NT END=27153295;NT GT ./. 1 27153631 . G . . NT END=27158937;NT GT ./. 1 27159099 . G . . NT END=27175098;NT GT ./. 1 27175249 . G . . NT END=27176791;NT GT ./. 1 27176930 . G . . NT END=27177048;NT GT ./. 1 27177098 . A . . NT END=27177619;NT GT ./. 1 27177723 . G . . NT END=27179243;NT GT ./. 1 27179062 rs10902645 G T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.62,T/0.38;Gene=ZDHHC18/NM_032283.2/1;CC=c.937-182G>T;VC=Intron;DM=ZDHHC18/zf-DHHC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:G,T:12:12:0:0:9,3:287,91:0.00,7.60:0.00,7.60:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:4.2,48.0:0,0:0,0:50,17:99,133:34,5:-,NM_032283.2(ZDHHC18) c.937-182G>T:-,0.36:-,NOT_FOUND 1 27179357 . G . . NT END=27180216;NT GT ./. 1 27180335 . C . . NT END=27189703;NT GT ./. 1 27190451 . G . . NT END=27206167;NT GT ./. 1 27190821 rs143285617 GGTGTGT G 8 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.194;Gene=SFN/NM_006142.3/1;CC=c.*401_*406delTGTGTG;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:GGTGTGT,G:7:4:0:4:4,3:125,116:0.00,7.84:0.00,-0.51:0.00,8.35:0.00,0.67:0.00,0.85:0.00,0.90:60,70:8.5,9.3:0,1:0,0:95,44:53,84:10,23:-,NM_006142.3(SFN) c.*373TG[14]:-,NOT_FOUND:-,NOT_FOUND 1 27206241 . C . . NT END=27210650;NT GT ./. 1 27210530 . C CA 9 rn VT=INS;SST=Single;DP=13;PC=0.393;Gene=GPN2/NM_018066.3/1;CC=c.860+120_860+121insT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T,CA,D:12:13:3:3:6,1,3,2:153,26,100,98:0.00,1.76,8.84,5.30:0.00,1.76,8.84,5.30:0.00,0.00,0.00,0.00:0.00,0.00,0.58,0.00:0.00,0.00,0.58,0.00:0.00,0.00,0.00,0.00:60,60,60,60:44.0,104.0,34.0,63.0:0,0,0,1:0,0,0,0:11,3,31,100:140,148,120,51:5,0,22,1:-,NM_018066.3(GPN2) c.860+120_860+121insT:-,NOT_FOUND:-,NOT_FOUND 1 27210721 rs3170660 T C 346 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.1268,C/0.8732;PC=1.000;Gene=GPN2/NM_018066.3/1;CC=c.790A>G;ProtCh=p.R264G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:100:73:0:0:1,99:11,3001:0.13,346.46:0.00,175.00:0.13,171.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:110.0,37.0:0,0:0,0:62,80:89,67:0,32:NM_018066.3(GPN2) c.790A>G (p.Arg264Gly),NM_018066.3(GPN2) c.790A>G (p.Arg264Gly):0.84,0.84:0.724896,0.724896 1 27210807 . C . . NT END=27212463;NT GT ./. 1 27212625 . C . . NT END=27215459;NT GT ./. 1 27215617 . C . . NT END=27216176;NT GT ./. 1 27215784 rs910048 C T 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=GPN2/NM_018066.3/1;CC=c.412-168G>A;VC=Intron;DM=GPN2/ATP_bind_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:444:51.07:0.00:51.07:1.00:0.00:1.00:60:54.1:1:0:105:46:30:NM_018066.3(GPN2) c.412-168G>A,NM_018066.3(GPN2) c.412-168G>A:1,1:NOT_FOUND,NOT_FOUND 1 27216588 . T . . NT END=27217500;NT GT ./. 1 27217718 . C . . NT END=27218901;NT GT ./. 1 27219030 . C . . NT END=27219160;NT GT ./. 1 27219283 . C . . NT END=27219879;NT GT ./. 1 27219940 . C . . NT END=27220726;NT GT ./. 1 27220902 . C . . NT END=27223791;NT GT ./. 1 27224217 . C . . NT END=27226482;NT GT ./. 1 27226934 . C . . NT END=27238335;NT GT ./. 1 27238150 rs7504 A G 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5248,G/0.4752;Gene=NR0B2/NM_021969.2/1;CC=c.*186T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:13:13:0:0:5,8:163,272:0.00,27.25:0.00,27.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,34.0:0,0:0,0:33,60:118,91:30,15:-,NM_021969.2(NR0B2) c.*186T>C:-,0.49:-,NOT_FOUND 1 27238578 . C . . NT END=27239899;NT GT ./. 1 27240432 . G . . NT END=27248339;NT GT ./. 1 27240651 rs145613139 CTCAG C 17 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CTCAG/0.972,C/0.02796;NP=62;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:CTCAG,C:11:0:0:6:5,6:170,175:0.00,17.07:0.00,0.00:0.00,17.07:0.00,0.98:0.00,0.00:0.00,0.98:60,60:45.6,32.0:0,0:0,0:109,123:42,28:23,14:-,NM_021969.2(NR0B2) c.-136-u88_-136-u85delCTGA:-,0.02:-,NOT_FOUND 1 27248421 . G . . NT END=27250579;NT GT ./. 1 27250658 . G . . NT END=27267947;NT GT ./. 1 27268152 . G . . NT END=27268243;NT GT ./. 1 27268310 . G . . NT END=27269147;NT GT ./. 1 27269268 . G . . NT END=27269361;NT GT ./. 1 27269557 . G . . NT END=27271880;NT GT ./. 1 27271965 . G . . NT END=27272058;NT GT ./. 1 27272178 . G . . NT END=27272620;NT GT ./. 1 27272673 . C . . NT END=27276559;NT GT ./. 1 27276643 . C . . NT END=27277172;NT GT ./. 1 27277248 . C . . NT END=27277832;NT GT ./. 1 27278521 rs3010110 G A 182 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=G/0.8724,A/0.1276;PC=1.000;Gene=KDF1/NM_152365.2/1;CC=c.351C>T;ProtCh=p.D117=;VC=Silent;DM=KDF1/DUF4656 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:146:99:0:0:62,84:1956,2787:181.87,0.00:91.46,0.00:90.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.2,9.2:0,0:0,0:89,77:59,68:38,36:NM_152365.2(C1orf172) c.351C>T (p.(=)),-:0.13,-:0.19048,- 1 27278553 rs3010109 G A 176 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.9062,A/0.09385;PC=1.000;Gene=KDF1/NM_152365.2/1;CC=c.319C>T;ProtCh=p.R107W;VC=Missense;DM=KDF1/DUF4656 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:149:103:0:0:62,1,86:1897,9,2747:175.58,-0.21,0.00:97.40,-0.14,0.00:78.17,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.6,113.0,7.4:0,0,0:0,0,0:60,72,55:88,79,86:40,0,39:NM_152365.2(C1orf172) c.319C>T (p.Arg107Trp),-:0.1,-:0.128136,- 1 27278872 . G . . NT END=27320277;NT GT ./. 1 27307014 . CT C 8 idl,rn VT=DEL;SST=Single;DP=12;PC=0.920;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CT,I,C:10:2:2:4:6,1,3:198,55,128:0.00,2.37,8.28:0.00,-0.06,-0.19:0.00,2.43,8.46:0.00,0.00,0.59:0.00,0.00,0.53:0.00,0.00,0.93:60,60,60:21.5,37.0,3.3:0,1,1:0,0,0:104,90,40:44,61,110:24,12,12:-,chr1 g.27307015delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 27320078 rs559812855 G GC 26 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=8;PC=0.109;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GC:21:21:11:0:1,10,10:35,285,310:2.43,0.00,26.44:2.47,0.00,20.50:-0.04,0.00,5.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:65.0,66.6,41.3:0,2,1:0,0,0:12,76,77:139,74,74:0,50,30:-,NM_001013642.2(TRNP1) c.-83-u117_-83-u116insC:-,NOT_FOUND:-,NOT_FOUND 1 27320356 rs6689941 T C 655 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=189;DB;DBA=NA;PAF=T/0.01797,C/0.982;PC=1.000;Gene=TRNP1/NM_001013642.2/1;CC=c.79T>C;ProtCh=p.W27R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:189:117:0:1:189:5654:654.65:314.52:340.13:1.00:1.00:1.00:60:46.9:0:0:79:70:36:NM_001013642.2(TRNP1) c.=,NM_001013642.2(TRNP1) c.=:0.97,0.97:0.987873,0.987873 1 27320962 . C . . NT END=27332434;NT GT ./. 1 27333449 . C . . NT END=27338897;NT GT ./. 1 27339103 rs4970471 G T 353 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=217;DB;DBA=NA;PAF=G/0.6641,T/0.3359;PC=0.009;Gene=FAM46B/NM_052943.3/1;CC=c.59C>A;ProtCh=p.T20K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:217:139:0:0:106,111:3439,3652:0.00,352.87:0.00,146.69:0.00,206.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,39.4:0,0:0,0:63,73:84,74:29,32:-,NM_052943.3(FAM46B) c.59C>A (p.Thr20Lys):-,0.33:-,NOT_FOUND 1 27339162 . c . . NT END=27426797;NT GT ./. 1 27413475 rs6668075 C A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7039,A/0.2961;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:140:15.91:9.94:5.97:1.00:1.00:1.00:60:38.0:0:0:63:87:11:chr1 g.27413474C>A (intergenic),chr1 g.27413474C>A (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 1 27426796 rs4266911 T C 279 nt VT=SNV;PN=G;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.01258,C/0.9874;Gene=SLC9A1/NM_003047.4/1;CC=c.*2A>G;VC=3UTR;Gene=SLC9A1/NR_046474.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:69:0:0:76:2429:278.78:208.32:70.46:1.00:1.00:1.00:60:45.6:0:0:45:103:30:NM_003047.4(SLC9A1) c.*2A>G,NM_003047.4(SLC9A1) c.*2A>G:0.98,0.98:0.969928,0.969928 1 27427041 rs4418629 T C 334 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.01078,C/0.9892;PC=1.000;Gene=SLC9A1/NM_003047.4/1;CC=c.2205A>G;ProtCh=p.E735=;VC=Silent;Gene=SLC9A1/NR_046474.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:90:51:0:0:90:2915:334.24:139.85:194.38:1.00:1.00:1.00:60:40.0:0:0:75:69:35:NM_003047.4(SLC9A1) c.2205A>G (p.(=)),NM_003047.4(SLC9A1) c.2205A>G (p.(=)):0.98,0.98:0.971321,0.971321 1 27427136 . C . . NT END=27427693;NT GT ./. 1 27427767 . C . . NT END=27428215;NT GT ./. 1 27428318 . C . . NT END=27428506;NT GT ./. 1 27428321 rs6598870 T C 126 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7228,C/0.2772;PC=0.002;Gene=SLC9A1/NM_003047.4/1;CC=c.1936-4A>G;VC=Intron;Gene=SLC9A1/NR_046474.1/0;VC=NonCoding;DM=SLC9A1/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:C,G:36:20:0:0:35,1:1101,13:126.24,0.41:57.17,0.00:69.08,0.41:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,28.0:0,0:0,0:107,23:44,128:28,0:NM_003047.4(SLC9A1) c.1936-4A>G,NM_003047.4(SLC9A1) c.1936-4A>G:0.24,0.24:0.36179,0.36179 1 27428622 . C . . NT END=27428875;NT GT ./. 1 27429050 . C . . NT END=27429163;NT GT ./. 1 27429235 . C . . NT END=27429713;NT GT ./. 1 27429804 . C . . NT END=27432375;NT GT ./. 1 27432579 . C . . NT END=27434138;NT GT ./. 1 27432745 rs12118026 A G 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7596,G/0.2404;Gene=SLC9A1/NM_003047.4/1;CC=c.1283-167T>C;VC=Intron;Gene=SLC9A1/NR_046474.1/0;VC=NonCoding;DM=SLC9A1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:308:35.09:0.00:35.09:1.00:0.00:1.00:60:48.4:0:0:68:80:23:NM_003047.4(SLC9A1) c.1283-167T>C,NM_003047.4(SLC9A1) c.1283-167T>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 27434357 . C . . NT END=27436017;NT GT ./. 1 27435976 rs3738689 C G 164 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.7634,A/.,G/0.2366;Gene=SLC9A1/NM_003047.4/1;CC=c.1064+42G>C;VC=Intron;Gene=SLC9A1/NR_046474.1/0;VC=NonCoding;DM=SLC9A1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G:47:41:0:0:47:1421:164.31:119.86:44.45:1.00:1.00:1.00:60:40.6:0:0:28:106:23:NM_003047.4(SLC9A1) c.1064+42G>C,NM_003047.4(SLC9A1) c.1064+42G>C:0.23,0.23:0.325235,0.325235 1 27436269 . C . . NT END=27440316;NT GT ./. 1 27440778 . C . . NT END=27480473;NT GT ./. 1 27480293 rs6697059 G C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.765,C/0.235;PC=0.001;Gene=SLC9A1/NM_003047.4/1;CC=c.352+181C>G;VC=Intron;Gene=SLC9A1/NR_046474.1/0;VC=NonCoding;DM=SLC9A1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:277:31.98:31.98:0.00:1.00:1.00:0.00:60:55.6:0:0:20:129:8:NM_003047.4(SLC9A1) c.352+181C>G,NM_003047.4(SLC9A1) c.352+181C>G:0.22,0.22:NOT_FOUND,NOT_FOUND 1 27480757 rs34306208 A G 375 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.7502,G/0.2498;PC=0.077;Gene=SLC9A1/NM_003047.4/1;CC=c.69T>C;ProtCh=p.V23=;VC=Silent;Gene=SLC9A1/NR_046474.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:102:56:0:0:102:3264:374.80:132.44:242.37:1.00:1.00:1.00:60:37.5:0:0:70:76:40:NM_003047.4(SLC9A1) c.69T>C (p.(=)),NM_003047.4(SLC9A1) c.69T>C (p.(=)):0.24,0.24:0.326849,0.326849 1 27480826 . G . . NT END=27587545;NT GT ./. 1 27503450 rs397695026 T TC 38 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6831,TC/0.3169,TCC/.;DB;DBA=NA;PAF=T/0.6831,TC/0.3169;NP=334;PC=1.000;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:T,TC:14:6:11:0:3,11:96,358:0.00,37.89:0.00,6.83:0.00,31.06:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,1.2:1,0:0,0:143,81:5,69:4,17:-,chr1 g.27503450_27503451insC (intergenic):-,0.28:-,NOT_FOUND 1 27503583 rs12752945 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7368,T/0.2632;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:128:14.71:3.98:10.73:1.00:1.00:1.00:60:74.2:0:0:60:90:28:chr1 g.27503582C>T (intergenic),chr1 g.27503582C>T (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 1 27503662 rs12119525 T A 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7366,A/0.2634;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:3:0:0:5:143:16.63:9.69:6.93:1.00:1.00:1.00:60:84.8:0:0:70:80:18:chr1 g.27503661T>A (intergenic),chr1 g.27503661T>A (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 1 27533906 rs71582851 AGATGAT A 55 rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=AGATGAT/0.722,A/0.278;NP=565;PC=0.999;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGATGAT,A:26:11:0:18:9,17:304,580:0.00,55.41:0.00,15.25:0.00,40.16:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,9.4:0,1:0,0:133,73:17,76:9,22:-,chr1 g.27533907_27533912delGATGAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 27534176 rs34949537 G T 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6759,A/.,T/0.3241;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:6:0:0:13:421:48.30:15.01:33.29:1.00:1.00:1.00:60:42.7:0:0:104:37:36:chr1 g.27534175G>T (intergenic),chr1 g.27534175G>T (intergenic):0.32,0.32:NOT_FOUND,NOT_FOUND 1 27587594 . G . . NT END=27589642;NT GT ./. 1 27589727 . G . . NT END=27608729;NT GT ./. 1 27608777 . G . . NT END=27609828;NT GT ./. 1 27609941 . G . . NT END=27614164;NT GT ./. 1 27609980 rs6670124 T G 210 nt VT=SNV;PN=A;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.02216,G/0.9778;PC=0.001;Gene=WDTC1/NM_001276252.1/1;CC=c.291+40T>G;VC=Intron;Gene=WDTC1/NM_015023.4/0;CC=c.291+40T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:16:0:0:53:1843:209.57:32.17:177.41:1.00:1.00:1.00:60:49.6:0:0:103:48:27:NM_015023.3(WDTC1) c.291+40T>G,NM_015023.3(WDTC1) c.291+40T>G:0.98,0.98:0.976542,0.976542 1 27610069 rs10902656 C T 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.2784,T/0.7216;PC=0.966;Gene=WDTC1/NM_001276252.1/1;CC=c.291+129C>T;VC=Intron;Gene=WDTC1/NM_015023.4/0;CC=c.291+129C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:0:0:0:21:626:72.56:0.00:72.56:1.00:0.00:1.00:60:65.5:0:0:119:32:20:NM_015023.3(WDTC1) c.291+129C>T,NM_015023.3(WDTC1) c.291+129C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 1 27614353 . G . . NT END=27618705;NT GT ./. 1 27618889 . G . . NT END=27620512;NT GT ./. 1 27620608 . G . . NT END=27621004;NT GT ./. 1 27621121 . G . . NT END=27622816;NT GT ./. 1 27622596 rs4970517 A G 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.151,G/0.849;PC=0.009;Gene=WDTC1/NM_001276252.1/1;CC=c.874-221A>G;VC=Intron;Gene=WDTC1/NM_015023.4/0;CC=c.874-221A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:111:13.00:13.00:0.00:1.00:1.00:0.00:60:39.5:0:0:43:106:22:NM_015023.3(WDTC1) c.874-221A>G,NM_015023.3(WDTC1) c.874-221A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 27622893 . G . . NT END=27623538;NT GT ./. 1 27623648 . G . . NT END=27624428;NT GT ./. 1 27624603 . G . . NT END=27627716;NT GT ./. 1 27627953 . G . . NT END=27630111;NT GT ./. 1 27630287 . G . . NT END=27631491;NT GT ./. 1 27631685 . G . . NT END=27632676;NT GT ./. 1 27632875 . A . . NT END=27648688;NT GT ./. 1 27648883 . G . . NT END=27657210;NT GT ./. 1 27652114 rs116126338 G A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9914,A/0.008586;PC=0.998;Gene=TMEM222/NM_032125.2/1;CC=c.194+3232G>A;VC=Intron;Gene=TMEM222/NR_037576.1/0;VC=NonCoding;Gene=TMEM222/NR_037577.1/0;VC=NonCoding;Gene=TMEM222/NR_037580.1/0;VC=NonCoding;Gene=ACTG1P20/NR_033926.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:12:0:0:11,11:325,350:31.11,0.00:6.33,0.00:24.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,4.5:0,0:0,0:141,112:8,35:7,31:NR_033926.1(LOC644961) n.1750G>A,-:0.01,-:NOT_FOUND,- 1 27657296 . G . . NT END=27657475;NT GT ./. 1 27657629 . G . . NT END=27658560;NT GT ./. 1 27658593 . G . . NT END=27660448;NT GT ./. 1 27660340 rs12758154 T C 105 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.7001,C/0.2999;PC=0.002;Gene=TMEM222/NM_032125.2/1;CC=c.312-109T>C;VC=Intron;Gene=TMEM222/NR_037576.1/0;VC=NonCoding;Gene=TMEM222/NR_037577.1/0;VC=NonCoding;Gene=TMEM222/NR_037580.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:28:0:0:28:912:104.53:104.53:0.00:1.00:1.00:0.00:60:49.0:0:0:52:99:35:NM_032125.2(TMEM222) c.312-109T>C,NM_032125.2(TMEM222) c.312-109T>C:0.31,0.31:NOT_FOUND,NOT_FOUND 1 27660546 . G . . NT END=27660641;NT GT ./. 1 27660568 rs35771571 G A 459 nt VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=G/0.6404,A/0.3596;Gene=TMEM222/NM_032125.2/1;CC=c.408+23G>A;VC=Intron;Gene=TMEM222/NR_037576.1/0;VC=NonCoding;Gene=TMEM222/NR_037577.1/0;VC=NonCoding;Gene=TMEM222/NR_037580.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:121:95:0:0:121:4010:458.56:280.78:177.79:1.00:1.00:1.00:60:46.2:0:0:66:83:32:NM_032125.2(TMEM222) c.408+23G>A,NM_032125.2(TMEM222) c.408+23G>A:0.35,0.35:0.427495,0.427495 1 27660734 rs41291080 G A 156 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.9964,A/0.003594;NP=78;Gene=TMEM222/NM_032125.2/1;CC=c.501G>A;ProtCh=p.T167=;VC=Silent;Gene=TMEM222/NR_037576.1/0;VC=NonCoding;Gene=TMEM222/NR_037577.1/0;VC=NonCoding;Gene=TMEM222/NR_037580.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:65:0:0:54,61:1643,1984:155.50,0.00:64.98,0.00:90.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,7.3:0,0:0,0:76,52:67,93:39,32:NM_032125.2(TMEM222) c.501G>A (p.(=)),-:0.01,-:0.009534,- 1 27660773 . G . . NT END=27661157;NT GT ./. 1 27661037 rs12565684 T C 262 nt VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.7348,C/0.2652;Gene=TMEM222/NM_032125.2/1;CC=c.539+265T>C;VC=Intron;Gene=TMEM222/NR_037576.1/0;VC=NonCoding;Gene=TMEM222/NR_037577.1/0;VC=NonCoding;Gene=TMEM222/NR_037580.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:C,G:69:58:0:0:68,1:2303,12:262.28,0.21:175.42,0.21:86.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,169.0:0,0:0,0:41,138:103,13:22,0:NM_032125.2(TMEM222) c.539+265T>C,NM_032125.2(TMEM222) c.539+265T>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 27661246 . G . . NT END=27661869;NT GT ./. 1 27661707 rs4539159 T C 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.7025,C/0.2975;PC=0.002;Gene=TMEM222/NM_032125.2/1;CC=c.540-163T>C;VC=Intron;Gene=TMEM222/NR_037576.1/0;VC=NonCoding;Gene=TMEM222/NR_037577.1/0;VC=NonCoding;Gene=TMEM222/NR_037580.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:16:0:0:16:491:56.65:56.65:0.00:1.00:1.00:0.00:60:47.1:0:0:54:97:16:NM_032125.2(TMEM222) c.540-163T>C,NM_032125.2(TMEM222) c.540-163T>C:0.31,0.31:NOT_FOUND,NOT_FOUND 1 27661755 rs71294466 T A,TGTA 81 sb;idl,nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7025,TGTA/0.2975;NP=1401 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:33:A,TGTA:28:28:25:0:3,25:93,700:7.82,80.64:6.52,80.64:1.30,0.00:0.00,1.00:0.00,1.00:0.00,0.93:60,60:87.3,25.2:1,0:0,0:6,40:145,111:5,28:NM_032125.2(TMEM222) c.540-115T>A,NM_032125.2(TMEM222) c.540-115_540-114insGTA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 27661958 . T . . NT END=27668800;NT GT ./. 1 27662235 rs3813792 G T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6374,T/0.3626;Gene=TMEM222/NM_032125.2/1;CC=c.*278G>T;VC=3UTR;Gene=TMEM222/NR_037576.1/0;VC=NonCoding;Gene=TMEM222/NR_037577.1/0;VC=NonCoding;Gene=TMEM222/NR_037580.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:36.0:0:0:96:54:23:NM_032125.2(TMEM222) c.*278G>T,NM_032125.2(TMEM222) c.*278G>T:0.35,0.35:NOT_FOUND,NOT_FOUND 1 27668859 . G . . NT END=27671787;NT GT ./. 1 27672017 . G . . NT END=27673911;NT GT ./. 1 27674061 . G . . NT END=27674298;NT GT ./. 1 27674372 . G . . NT END=27674457;NT GT ./. 1 27674504 . G . . NT END=27675570;NT GT ./. 1 27675644 . G . . NT END=27675888;NT GT ./. 1 27676257 . G . . NT END=27676462;NT GT ./. 1 27676624 . G . . NT END=27676879;NT GT ./. 1 27676925 rs6702341 G A 206 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7552,A/0.2448;PC=1.000;Gene=SYTL1/NM_001193308.1/1;CC=c.954G>A;ProtCh=p.K318=;VC=Silent;Gene=SYTL1/NM_032872.2/0;CC=c.918G>A;ProtCh=p.K306=;VC=Silent;DM=SYTL1/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:A:59:41:0:0:59:1780:205.88:98.49:107.39:1.00:1.00:1.00:60:37.9:0:0:69:76:40:NM_001193308.1(SYTL1) c.954G>A (p.(=)),NM_001193308.1(SYTL1) c.954G>A (p.(=)):0.25,0.25:0.305859,0.305859 1 27676977 . G . . NT END=27677284;NT GT ./. 1 27677290 rs115175073 C T 146 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.9986,T/0.001398;NP=48;PC=0.008;Gene=SYTL1/NM_001193308.1/1;CC=c.1011C>T;ProtCh=p.S337=;VC=Silent;Gene=SYTL1/NM_032872.2/0;CC=c.975C>T;ProtCh=p.S325=;VC=Silent;DM=SYTL1/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:93:80:0:0:47,46:1491,1516:0.00,145.51:0.00,103.24:0.00,42.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,39.6:0,0:0,0:70,76:80,68:29,31:-,NM_001193308.1(SYTL1) c.1011C>T (p.(=)):-,0.0023:-,0.005305 1 27677444 . G . . NT END=27677748;NT GT ./. 1 27677828 . G . . NT END=27677946;NT GT ./. 1 27678047 . G . . NT END=27679773;NT GT ./. 1 27679692 rs11247639 A G 215 nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.5184,G/0.4816;PC=0.001;Gene=SYTL1/NM_001193308.1/1;CC=c.1344-82A>G;VC=Intron;Gene=SYTL1/NM_032872.2/0;CC=c.1308-82A>G;VC=Intron;DM=SYTL1/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:56:0:0:59:1869:214.99:190.59:24.40:1.00:1.00:1.00:60:51.1:0:0:45:106:28:NM_001193308.1(SYTL1) c.1344-82A>G,NM_001193308.1(SYTL1) c.1344-82A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 27679797 rs3813795 A G 463 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=A/0.5178,G/0.4822;Gene=SYTL1/NM_001193308.1/1;CC=c.1367A>G;ProtCh=p.Q456R;VC=Missense;Gene=SYTL1/NM_032872.2/0;CC=c.1331A>G;ProtCh=p.Q444R;VC=Missense;DM=SYTL1/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:131:110:0:0:131:4013:463.45:297.08:166.37:1.00:1.00:1.00:60:43.4:0:0:69:75:35:NM_001193308.1(SYTL1) c.1367A>G (p.Gln456Arg),NM_001193308.1(SYTL1) c.1367A>G (p.Gln456Arg):0.46,0.46:0.599339,0.599339 1 27679954 rs1128918 G A 211 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=G/0.759,A/0.241;PC=0.001;Gene=SYTL1/NM_001193308.1/1;CC=c.1524G>A;ProtCh=p.G508=;VC=Silent;Gene=SYTL1/NM_032872.2/0;CC=c.1488G>A;ProtCh=p.G496=;VC=Silent;DM=SYTL1/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:144:79:0:0:68,76:2219,2377:211.06,0.00:68.51,0.00:142.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,6.5:0,0:0,0:83,89:63,59:31,23:NM_001193308.1(SYTL1) c.1524G>A (p.(=)),-:0.24,-:0.294647,- 1 27679980 . G . . NT END=27680203;NT GT ./. 1 27680292 rs8533 A G 297 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.4537,G/0.5463;Gene=SYTL1/NM_001193308.1/1;CC=c.1638A>G;ProtCh=p.E546=;VC=Silent;Gene=SYTL1/NM_032872.2/0;CC=c.1602A>G;ProtCh=p.E534=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:79:42:0:0:1,78:26,2626:0.00,297.43:0.00,98.40:0.00,199.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,39.9:0,0:0,0:57,86:93,61:0,30:NM_001193308.1(SYTL1) c.1638A>G (p.(=)),NM_001193308.1(SYTL1) c.1638A>G (p.(=)):0.54,0.54:0.717515,0.717515 1 27680344 . C . . NT END=27681906;NT GT ./. 1 27681961 . C . . NT END=27682159;NT GT ./. 1 27682126 rs12742921 T C 98 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.9135,C/0.08646;Gene=MAP3K6/NM_001297609.1/0;CC=c.3764+34A>G;VC=Intron;Gene=MAP3K6/NM_004672.4/1;CC=c.3788+34A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:40:0:0:32,23:993,749:98.13,0.00:63.50,0.00:34.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.2,6.3:0,0:0,0:47,75:99,71:25,34:NM_004672.3(MAP3K6) c.3788+34A>G,-:0.11,-:0.13809,- 1 27682237 . C . . NT END=27682516;NT GT ./. 1 27682591 . C . . NT END=27682878;NT GT ./. 1 27682992 . C . . NT END=27683080;NT GT ./. 1 27683241 . C . . NT END=27683499;NT GT ./. 1 27683606 . C . . NT END=27683890;NT GT ./. 1 27683836 rs79512993 C G 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.9896,G/0.01038;NP=110;Gene=MAP3K6/NM_001297609.1/0;CC=c.3234+55G>C;VC=Intron;Gene=MAP3K6/NM_004672.4/1;CC=c.3258+55G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:75:66:0:0:42,32,1:1377,992,12:0.00,92.42,-0.04:0.00,69.69,0.02:0.00,22.73,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.1,49.1,26.0:0,0,0:0,0,0:50,52,146:98,97,5:30,33,0:-,NM_004672.3(MAP3K6) c.3258+55G>C:-,0.01:-,NOT_FOUND 1 27684068 . C . . NT END=27684201;NT GT ./. 1 27684368 . C . . NT END=27684671;NT GT ./. 1 27684811 . C . . NT END=27684909;NT GT ./. 1 27685103 . C . . NT END=27685199;NT GT ./. 1 27685358 . C . . NT END=27685907;NT GT ./. 1 27686051 . C . . NT END=27686348;NT GT ./. 1 27686063 rs7521552 G C 302 nt VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.01198,C/0.988,T/.;Gene=MAP3K6/NM_001297609.1/0;CC=c.2296-50C>G;VC=Intron;Gene=MAP3K6/NM_004672.4/1;CC=c.2320-50C>G;VC=Intron;DM=MAP3K6/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:78:42:0:0:78:2644:301.57:119.55:182.02:1.00:1.00:1.00:60:40.5:0:0:90:56:34:NM_004672.3(MAP3K6) c.2320-50C>G,NM_004672.3(MAP3K6) c.2320-50C>G:0.99,0.99:0.985468,0.985468 1 27686486 . C . . NT END=27686731;NT GT ./. 1 27686860 . C . . NT END=27687195;NT GT ./. 1 27687330 . C . . NT END=27687411;NT GT ./. 1 27687366 rs35733093 C G 503 nt VT=SNV;PN=G;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=C/0.6897,A/.,G/0.3103;Gene=MAP3K6/NM_001297609.1/0;CC=c.1897-37G>C;VC=Intron;Gene=MAP3K6/NM_004672.4/1;CC=c.1921-37G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:136:80:0:0:1,135:12,4388:0.12,502.65:0.12,208.61:0.00,294.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.0,39.8:0,0:0,0:127,89:23,59:0,30:NM_004672.3(MAP3K6) c.1921-37G>C,NM_004672.3(MAP3K6) c.1921-37G>C:0.33,0.33:0.267021,0.267021 1 27687500 . C . . NT END=27687647;NT GT ./. 1 27687744 . C . . NT END=27687836;NT GT ./. 1 27687887 . C . . NT END=27688010;NT GT ./. 1 27688119 . C . . NT END=27688195;NT GT ./. 1 27688359 . C . . NT END=27688581;NT GT ./. 1 27688551 rs41303775 T A 131 nt VT=SNV;PN=G;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.989,A/0.01098;Gene=MAP3K6/NM_001297609.1/0;CC=c.1391+31A>T;VC=Intron;Gene=MAP3K6/NM_004672.4/1;CC=c.1415+31A>T;VC=Intron;DM=MAP3K6/Pkinase;DM=MAP3K6/DUF4071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:92:58:0:0:44,48:1380,1451:131.31,0.00:72.47,0.00:58.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.0,27.2:0,0:0,0:67,55:82,92:42,36:NM_004672.3(MAP3K6) c.1415+31A>T,-:0.02,-:0.029217,- 1 27688633 rs1138294 G A 436 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=G/0.6895,A/0.3105;Gene=MAP3K6/NM_001297609.1/0;CC=c.1340C>T;ProtCh=p.T447I;VC=Missense;Gene=MAP3K6/NM_004672.4/1;CC=c.1364C>T;ProtCh=p.T455I;VC=Missense;DM=MAP3K6/Pkinase;DM=MAP3K6/DUF4071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:124:86:0:0:124:3775:436.11:228.46:207.65:1.00:1.00:1.00:60:45.9:0:0:70:76:31:NM_004672.3(MAP3K6) c.1364C>T (p.Thr455Ile),NM_004672.3(MAP3K6) c.1364C>T (p.Thr455Ile):0.33,0.33:0.281793,0.281793 1 27688742 . C . . NT END=27689131;NT GT ./. 1 27689245 . C . . NT END=27689341;NT GT ./. 1 27689513 . C . . NT END=27689932;NT GT ./. 1 27690040 . C . . NT END=27690407;NT GT ./. 1 27690577 . C . . NT END=27690694;NT GT ./. 1 27690886 . C . . NT END=27691151;NT GT ./. 1 27691176 . C . . NT END=27691263;NT GT ./. 1 27691211 . T G 191 nt VT=SNV;PN=G;NN=G;SST=Single;DP=128;Gene=MAP3K6/NM_001297609.1/0;CC=c.480+53A>C;VC=Intron;Gene=MAP3K6/NM_004672.4/1;CC=c.481-36A>C;VC=Intron;DM=MAP3K6/DUF4071;DM=MAP3K6/DUF4071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:128:104:0:0:63,65:1991,2120:190.58,0.00:109.83,0.00:80.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,4.9:0,0:0,0:60,42:91,109:35,22:NM_004672.3(MAP3K6) c.481-36A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 27691404 . C . . NT END=27692748;NT GT ./. 1 27693114 . C . . NT END=27695726;NT GT ./. 1 27695969 . C . . NT END=27697086;NT GT ./. 1 27696011 rs10218730 C T 248 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.007588,T/0.9924;NP=3432;PC=0.002;Gene=FCN3/NM_003665.2/1;CC=c.659-43G>A;VC=Intron;Gene=FCN3/NM_173452.1/0;CC=c.626-43G>A;VC=Intron;DM=FCN3/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:18:0:0:67:2160:247.87:44.57:203.30:1.00:1.00:1.00:60:44.0:0:0:96:48:29:NM_003665.2(FCN3) c.659-43G>A,NM_003665.2(FCN3) c.659-43G>A:0.99,0.99:0.992002,0.992002 1 27697222 . C . . NT END=27697333;NT GT ./. 1 27697464 . C . . NT END=27699626;NT GT ./. 1 27699449 rs10794501 A T 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2752,T/0.7248;PC=0.003;Gene=FCN3/NM_003665.2/1;CC=c.393+178T>A;VC=Intron;Gene=FCN3/NM_173452.1/0;CC=c.360+178T>A;VC=Intron;DM=FCN3/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:406:46.79:46.79:0.00:1.00:1.00:0.00:60:43.9:0:0:35:115:28:NM_003665.2(FCN3) c.393+178T>A,NM_003665.2(FCN3) c.393+178T>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 27699755 . C . . NT END=27699978;NT GT ./. 1 27700012 . C . . NT END=27700455;NT GT ./. 1 27700501 . C . . NT END=27700846;NT GT ./. 1 27700943 . C . . NT END=27701218;NT GT ./. 1 27701310 . C . . NT END=27705992;NT GT ./. 1 27706686 . C . . NT END=27708269;NT GT ./. 1 27708315 . C . . NT END=27708817;NT GT ./. 1 27708890 . C . . NT END=27708989;NT GT ./. 1 27709158 . C . . NT END=27709641;NT GT ./. 1 27709748 . T . . NT END=27720302;NT GT ./. 1 27720178 rs2504786 T C 45 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.5014,T/0.4986;Gene=GPR3/NM_005281.3/1;CC=c.-5-120T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:30:0:0:16,15:471,524:45.37,0.00:44.47,0.00:0.91,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:49.8,1.7:0,0:0,0:61,68:87,83:25,46:NM_005281.3(GPR3) c.-5-120T>C,-:0.46,-:NOT_FOUND,- 1 27721296 . C . . NT END=27734682;NT GT ./. 1 27734841 . C . . NT END=27736185;NT GT ./. 1 27736701 . C . . NT END=27739065;NT GT ./. 1 27739222 . C . . NT END=27741326;NT GT ./. 1 27741458 . C . . NT END=27742478;NT GT ./. 1 27742597 . C . . NT END=27744769;NT GT ./. 1 27744924 . C . . NT END=27745454;NT GT ./. 1 27745382 rs532502722 A T 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1;PC=0.581;Gene=WASF2/NM_001201404.2/0;CC=c.265+73T>A;VC=Intron;Gene=WASF2/NM_006990.4/1;CC=c.265+73T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,T:36:32:0:0:33,3:1039,94:0.00,6.35:0.00,1.55:0.00,4.80:0.00,0.39:0.00,0.84:0.00,0.58:60,60:8.4,58.7:0,0:0,0:36,48:114,102:22,34:-,NM_006990.3(WASF2) c.265+73T>A:-,NOT_FOUND:-,NOT_FOUND 1 27745590 . C . . NT END=27755270;NT GT ./. 1 27755401 . G . . NT END=27873814;NT GT ./. 1 27755511 rs201541202 CT C 22 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=CT/0.6563,C/0.3437;NP=4;PC=0.002;Gene=WASF2/NM_001201404.2/0;CC=c.-43-69delA;VC=Intron;Gene=WASF2/NM_006990.4/1;CC=c.-43-69delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:42:7:1:14:30,1,1,10:839,12,30,388:0.00,0.00,1.54,22.08:0.00,-0.05,-0.05,-0.53:0.00,0.05,1.59,22.61:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.79:0.00,0.00,0.00,1.00:60,60,60,70:22.4,12.0,33.0,33.9:0,0,0,4:0,0,0,0:120,14,122,83:25,137,25,68:18,0,0,34:-,NM_006990.3(WASF2) c.-43-69delA:-,NOT_FOUND:-,NOT_FOUND 1 27815763 . GCACA G 9 rn VT=DEL;SST=Single;DP=11;Gene=WASF2/NM_001201404.2/0;CC=c.-44+730_-44+733delTGTG;VC=Intron;Gene=WASF2/NM_006990.4/1;CC=c.-44+730_-44+733delTGTG;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,GCACA,G:11:11:0:3:1,7,3:11,213,98:0.32,0.00,8.57:0.36,0.00,7.10:-0.04,0.00,1.47:0.00,0.00,0.60:0.00,0.00,0.60:0.00,0.00,0.65:60,60,60:11.0,23.4,26.7:0,1,0:0,0,0:70,45,27:38,59,105:0,25,5:-,NM_006990.3(WASF2) c.-44+730_-44+733delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 27850981 rs6422126 G T 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:G,T:6:4:0:0:1,5:34,148:0.00,16.00:0.00,9.49:0.00,6.52:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,37.8:1,0:0,0:110,72:40,34:0,46:-,chr1 g.27850980G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 27875824 rs4908364 C T 516 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.001997,T/0.998;NP=3420;Gene=AHDC1/NM_001029882.3/1;CC=c.2803G>A;ProtCh=p.A935T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:140:85:0:0:140:4490:515.58:233.12:282.46:1.00:1.00:1.00:60:41.9:0:0:70:79:39:NM_001029882.2(AHDC1) c.2803G>A (p.Ala935Thr),NM_001029882.2(AHDC1) c.2803G>A (p.Ala935Thr):1,1:0.994925,0.994925 1 27876482 rs2076457 C A 321 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=223;DB;DBA=NA;PAF=C/0.2071,A/0.7929;Gene=AHDC1/NM_001029882.3/1;CC=c.2145G>T;ProtCh=p.P715=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:223:136:0:0:106,117:3379,3609:321.31,0.00:136.50,0.00:184.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,12.0:1,0:0,0:80,62:64,86:36,36:NM_001029882.2(AHDC1) c.2145G>T (p.(=)),-:0.78,-:0.71689,- 1 27878527 . T G 7 sb VT=SNV;PN=G;NN=G;SST=Single;DP=52;NP=7;PC=1.000;Gene=AHDC1/NM_001029882.3/1;CC=c.100A>C;ProtCh=p.T34P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:G,T,I,D:52:47:1:1:6,44,1,1:114,940,15,33:6.52,0.00,0.07,1.70:-0.24,0.00,-0.10,1.74:6.76,0.00,0.18,-0.04:0.84,0.00,0.00,0.00:0.98,0.00,0.00,0.00:0.69,0.00,0.00,0.00:60,60,60,60:37.2,21.3,8.0,0.0:0,0,1,0:0,0,0,0:67,63,10,91:63,88,141,60:34,40,0,0:NM_001029882.2(AHDC1) c.100A>C (p.Thr34Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 27878701 . C . . NT END=27939424;NT GT ./. 1 27935497 rs61050855 G GGTGT 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:G,GGTGT:4:1:2:0:2,2:36,67:0.00,6.46:0.00,-0.29:0.00,6.75:0.00,0.51:0.00,0.67:0.00,0.89:60,60:34.5,6.5:0,0:0,0:118,89:12,60:32,1:-,NM_001029882.2(AHDC1) c.-969-u5355_-969-u5354insACAC:-,NOT_FOUND:-,NOT_FOUND 1 27939634 . C . . NT END=27939729;NT GT ./. 1 27939862 . C . . NT END=27940940;NT GT ./. 1 27941095 . C . . NT END=27941360;NT GT ./. 1 27941438 . C . . NT END=27941944;NT GT ./. 1 27942125 . C . . NT END=27942199;NT GT ./. 1 27942356 . C . . NT END=27943367;NT GT ./. 1 27943518 . C . . NT END=27943703;NT GT ./. 1 27943808 . C . . NT END=27948069;NT GT ./. 1 27944000 rs1292089 T A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.05551,A/0.9445;Gene=FGR/NM_001042747.1/0;CC=c.429-193A>T;VC=Intron;Gene=FGR/NM_001042729.1/0;CC=c.429-193A>T;VC=Intron;Gene=FGR/NM_005248.2/1;CC=c.429-193A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:0:0:0:12:354:41.03:0.00:41.03:1.00:0.00:1.00:60:46.4:0:0:103:47:16:NM_001042747.1(FGR) c.429-193A>T,NM_001042747.1(FGR) c.429-193A>T:0.94,0.94:NOT_FOUND,NOT_FOUND 1 27948169 . C . . NT END=27949552;NT GT ./. 1 27949656 . C . . NT END=27950201;NT GT ./. 1 27950428 . T . . NT END=27992891;NT GT ./. 1 27974392 . TAC T 7 rn VT=DEL;SST=Single;DP=4;NP=17;PC=0.024;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:TAC,T:3:3:0:3:1,2:21,101:0.00,6.75:0.00,1.74:0.00,5.01:0.00,0.51:0.00,0.89:0.00,0.51:60,60:23.0,5.5:0,1:0,0:78,49:73,75:0,12:-,chr1 g.27974393_27974394delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 27992800 rs79131386 C CAA 22 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=5;Gene=IFI6/NM_002038.3/0;CC=c.*91_*92insTT;VC=3UTR;Gene=IFI6/NM_022872.2/1;CC=c.*91_*92insTT;VC=3UTR;Gene=IFI6/NM_022873.2/0;CC=c.*91_*92insTT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAA:15:19:11:0:8,7:271,362:0.00,21.71:0.00,21.71:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:26.1,61.7:0,4:0,0:126,32:18,111:22,20:-,NM_022873.2(IFI6) c.*69T[25]:-,NOT_FOUND:-,NOT_FOUND 1 27992987 . C . . NT END=27994736;NT GT ./. 1 27993138 rs141486702 A ATTTTTACC 33 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.01837,ATTTTTACC/0.9816;DB;DBA=NA;PAF=NA;NP=50;Gene=IFI6/NM_002038.3/0;CC=c.299-153_299-152insGGTAAAAA;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.311-153_311-152insGGTAAAAA;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.323-153_323-152insGGTAAAAA;VC=Intron;DM=IFI6/Ifi-6-16;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,ATTTTTACC:14:0:11:0:3,11:65,312:0.00,33.35:0.00,0.00:0.00,33.35:0.00,1.00:0.00,0.00:0.00,1.00:60,60:34.0,19.6:1,0:0,0:131,109:3,42:3,12:-,NM_022873.2(IFI6) c.323-153_323-152insGGTAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 27994887 . C . . NT END=27994968;NT GT ./. 1 27995047 . C . . NT END=27995731;NT GT ./. 1 27995077 rs56015130 G T 192 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.2556,T/0.7444;PC=0.001;Gene=IFI6/NM_002038.3/0;CC=c.71-31C>A;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.83-31C>A;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.95-31C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:19:0:0:52:1671:191.89:45.29:146.60:1.00:1.00:1.00:60:44.0:0:0:117:30:22:NM_022873.2(IFI6) c.95-31C>A,NM_022873.2(IFI6) c.95-31C>A:0.78,0.78:0.818633,0.818633 1 27995509 rs550879138 T C 10 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=IFI6/NM_002038.3/0;CC=c.70+247A>G;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.82+235A>G;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.94+223A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,T:6:6:0:1:3,3:100,54:9.66,0.00:9.66,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:56,60:220.7,86.0:0,0:0,0:7,115:143,35:1,0:NM_022873.2(IFI6) c.94+223A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 27995517 rs61787101 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2226,T/0.7774;NP=308;PC=0.001;Gene=IFI6/NM_002038.3/0;CC=c.70+239G>A;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.82+227G>A;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.94+215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:1:5:169:19.28:19.28:0.00:1.00:1.00:0.00:60:181.6:0:0:20:131:6:NM_022873.2(IFI6) c.94+215G>A,NM_022873.2(IFI6) c.94+215G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 27995529 rs112472381 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3231,T/0.6769;NP=199;PC=0.001;Gene=IFI6/NM_002038.3/0;CC=c.70+227G>A;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.82+215G>A;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.94+203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:6:6:0:0:3,3:98,73:0.00,6.91:0.00,6.91:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:56,60:220.7,97.3:0,1:0,0:27,135:123,15:1,0:-,NM_022873.2(IFI6) c.94+203G>A:-,NOT_FOUND:-,NOT_FOUND 1 27995530 rs145092707 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7105,A/0.2895;Gene=IFI6/NM_002038.3/0;CC=c.70+226C>T;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.82+214C>T;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.94+202C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,G:6:6:0:0:3,3:102,75:9.83,0.00:9.83,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:56,60:220.7,97.3:0,1:0,0:28,136:122,14:1,0:NM_022873.2(IFI6) c.94+202C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 27995533 rs61787102 C T 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2817,T/0.7183;Gene=IFI6/NM_002038.3/0;CC=c.70+223G>A;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.82+211G>A;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.94+199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,T:6:6:0:0:1,5:12,138:0.00,15.02:0.00,15.02:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:46.0,181.6:1,0:0,0:89,36:62,115:0,6:-,NM_022873.2(IFI6) c.94+199G>A:-,0.38:-,NOT_FOUND 1 27995557 rs112730044 T C 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4706,C/0.5294;PC=0.001;Gene=IFI6/NM_002038.3/0;CC=c.70+199A>G;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.82+187A>G;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.94+175A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:C,T:12:11:0:0:11,1:343,33:38.02,0.00:34.28,0.00:3.74,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:134.6,46.0:0,0:0,0:18,113:130,38:15,0:NM_022873.2(IFI6) c.94+175A>G,-:0.31,-:NOT_FOUND,- 1 27995565 rs71514291 C T 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=IFI6/NM_002038.3/0;CC=c.70+191G>A;VC=Intron;Gene=IFI6/NM_022872.2/1;CC=c.82+179G>A;VC=Intron;Gene=IFI6/NM_022873.2/0;CC=c.94+167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C,T:12:11:0:0:1,11:13,377:0.00,41.53:0.00,37.79:0.00,3.74:0.00,1.00:0.00,1.00:0.00,0.94:60,60:46.0,134.6:0,0:0,0:121,26:30,122:0,15:NM_022873.2(IFI6) c.94+167G>A,NM_022873.2(IFI6) c.94+167G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 1 27995826 . G . . NT END=28052591;NT GT ./. 1 28052673 . G . . NT END=28053982;NT GT ./. 1 28054048 . G . . NT END=28059113;NT GT ./. 1 28059169 . G . . NT END=28060541;NT GT ./. 1 28060695 . G . . NT END=28071164;NT GT ./. 1 28071323 . G . . NT END=28075578;NT GT ./. 1 28075666 . G . . NT END=28081705;NT GT ./. 1 28081842 . G . . NT END=28086036;NT GT ./. 1 28086139 . G . . NT END=28087005;NT GT ./. 1 28086955 rs10902671 C A 113 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.02216,A/0.9778;Gene=FAM76A/NM_001143912.1/1;CC=c.940-51C>A;VC=Intron;Gene=FAM76A/NM_001143913.1/0;CC=c.853-51C>A;VC=Intron;Gene=FAM76A/NM_001143914.1/0;CC=c.751-51C>A;VC=Intron;Gene=FAM76A/NM_001143915.1/0;CC=c.598-51C>A;VC=Intron;Gene=FAM76A/NM_152660.2/0;CC=c.838-51C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:26:0:0:32:980:113.18:79.10:34.08:1.00:1.00:1.00:60:49.9:0:0:47:102:33:NM_001143912.1(FAM76A) c.940-51C>A,NM_001143912.1(FAM76A) c.940-51C>A:0.97,0.97:0.946846,0.946846 1 28087093 . C . . NT END=28099818;NT GT ./. 1 28087388 rs200943332 C T 17 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=3;Gene=FAM76A/NM_001143912.1/1;CC=c.*296C>T;VC=3UTR;Gene=FAM76A/NM_001143913.1/0;CC=c.*296C>T;VC=3UTR;Gene=FAM76A/NM_001143914.1/0;CC=c.*296C>T;VC=3UTR;Gene=FAM76A/NM_001143915.1/0;CC=c.*296C>T;VC=3UTR;Gene=FAM76A/NM_152660.2/0;CC=c.*296C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:C,T:6:0:0:1:1,5:13,157:0.00,16.95:0.00,0.00:0.00,16.95:0.00,0.99:0.00,0.00:0.00,0.99:60,60:142.0,83.2:0,0:0,0:98,4:53,146:0,0:-,NM_001143912.1(FAM76A) c.*296C>T:-,NOT_FOUND:-,NOT_FOUND 1 28087457 rs74422309 G GT 14 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6563,T/0.3437;NP=4;NP=7;PC=0.001;Gene=FAM76A/NM_001143912.1/1;CC=c.*382_*383insT;VC=3UTR;Gene=FAM76A/NM_001143913.1/0;CC=c.*382_*383insT;VC=3UTR;Gene=FAM76A/NM_001143914.1/0;CC=c.*382_*383insT;VC=3UTR;Gene=FAM76A/NM_001143915.1/0;CC=c.*382_*383insT;VC=3UTR;Gene=FAM76A/NM_152660.2/0;CC=c.*382_*383insT;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:G,T,GT:6:0:4:0:1,1,4:28,13,128:0.00,0.94,13.53:0.00,0.00,0.00:0.00,0.94,13.53:0.00,0.00,0.93:0.00,0.00,0.00:0.00,0.00,0.93:60,60,60:65.0,94.0,87.8:0,0,0:0,0,0:74,74,73:76,76,77:0,0,0:-,NM_001143912.1(FAM76A) c.*382dupT:-,NOT_FOUND:-,NOT_FOUND 1 28099937 . G . . NT END=28116072;NT GT ./. 1 28116143 . G . . NT END=28120043;NT GT ./. 1 28120144 . G . . NT END=28128188;NT GT ./. 1 28128327 . G . . NT END=28136756;NT GT ./. 1 28136801 . G . . NT END=28138673;NT GT ./. 1 28138780 . G . . NT END=28144361;NT GT ./. 1 28144435 . G . . NT END=28146160;NT GT ./. 1 28146244 . G . . NT END=28148741;NT GT ./. 1 28148841 . T . . NT END=28157346;NT GT ./. 1 28157176 . GA G 46 rn VT=DEL;SST=Single;DP=27;NP=23;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:27:27:1:15:11,1,15:345,23,467:0.00,1.18,46.17:0.00,1.18,46.17:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:26.1,0.0,1.9:0,0,0:0,0,0:45,128,51:100,22,100:17,0,27:-,NM_014110.4(PPP1R8) c.-95-u75delA:-,NOT_FOUND:-,NOT_FOUND 1 28157446 rs41284290 T G 276 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=197;DB;DBA=NA;PAF=T/0.9591,G/0.04093;Gene=PPP1R8/NM_014110.4/1;CC=c.56+44T>G;VC=Intron;Gene=PPP1R8/NM_002713.3/0;CC=c.-827T>G;VC=5UTR;Gene=PPP1R8/NM_138558.2/0;CC=c.-682T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:197:124:0:0:2,90,105:20,2918,3326:-0.26,276.32,0.00:-0.22,120.12,0.00:-0.04,156.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:105.5,36.3,8.7:0,0,0:0,0,0:61,74,81:78,71,66:18,38,32:NM_014110.4(PPP1R8) c.56+44T>G,-:0.04,-:0.047879,- 1 28157878 . g . . NT END=28159266;NT GT ./. 1 28159328 . G . . NT END=28165209;NT GT ./. 1 28165364 . G . . NT END=28167524;NT GT ./. 1 28167746 . G . . NT END=28169696;NT GT ./. 1 28169842 . G . . NT END=28173538;NT GT ./. 1 28173604 . G . . NT END=28176603;NT GT ./. 1 28176958 . T . . NT END=28199082;NT GT ./. 1 28199177 . G . . NT END=28203098;NT GT ./. 1 28199183 . G C 143 nt VT=SNV;PN=C;NN=G;SST=Single;DP=107;PC=0.999;Gene=THEMIS2/NM_001039477.2/0;CC=c.94+7G>C;VC=Intron;Gene=THEMIS2/NM_001105556.2/0;CC=c.94+7G>C;VC=Intron;Gene=THEMIS2/NM_001286113.1/1;CC=c.94+7G>C;VC=Intron;Gene=THEMIS2/NM_001286115.1/0;CC=c.94+7G>C;VC=Intron;Gene=THEMIS2/NM_004848.3/0;CC=c.94+7G>C;VC=Intron;DM=THEMIS2/CABIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:107:62:0:0:51,56:1506,1624:142.83,0.00:53.38,0.00:89.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,17.3:0,0:0,0:97,105:50,41:24,31:NM_001105556.1(THEMIS2) c.94+7G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 28203240 . G . . NT END=28206154;NT GT ./. 1 28206566 . G . . NT END=28208481;NT GT ./. 1 28208327 rs34631302 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5449,G/0.4551;PC=0.020;Gene=THEMIS2/NM_001039477.2/0;CC=c.236-3479A>G;VC=Intron;Gene=THEMIS2/NM_001105556.2/0;CC=c.647-155A>G;VC=Intron;Gene=THEMIS2/NM_001286113.1/1;CC=c.647-155A>G;VC=Intron;Gene=THEMIS2/NM_001286115.1/0;CC=c.556-652A>G;VC=Intron;Gene=THEMIS2/NM_004848.3/0;CC=c.646+1762A>G;VC=Intron;DM=THEMIS2/CABIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:249,239:0.00,22.63:0.00,22.63:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:20.9,34.9:0,0:0,0:53,33:98,117:25,29:-,NM_001105556.1(THEMIS2) c.647-155A>G:-,0.45:-,NOT_FOUND 1 28208353 . CA C 12 idl,rn VT=DEL;SST=Single;DP=22;NP=3;PC=0.380;Gene=THEMIS2/NM_001039477.2/0;CC=c.236-3440delA;VC=Intron;Gene=THEMIS2/NM_001105556.2/0;CC=c.647-116delA;VC=Intron;Gene=THEMIS2/NM_001286113.1/1;CC=c.647-116delA;VC=Intron;Gene=THEMIS2/NM_001286115.1/0;CC=c.556-613delA;VC=Intron;Gene=THEMIS2/NM_004848.3/0;CC=c.646+1801delA;VC=Intron;DM=THEMIS2/CABIT;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:CA,I,C:19:21:3:8:11,3,5:364,95,224:0.00,7.64,11.74:0.00,7.64,11.74:0.00,0.00,0.00:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.49:60,60,70:29.2,15.7,55.0:0,0,3:0,0,0:80,30,38:71,121,105:34,19,16:-,NM_001105556.1(THEMIS2) c.647-128delA:-,NOT_FOUND:-,NOT_FOUND 1 28209305 rs3766398 A G 277 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=183;DB;DBA=NA;PAF=A/0.5276,G/0.4724;PC=0.001;Gene=THEMIS2/NM_001039477.2/0;CC=c.236-2501A>G;VC=Intron;Gene=THEMIS2/NM_001105556.2/0;CC=c.1470A>G;ProtCh=p.L490=;VC=Silent;Gene=THEMIS2/NM_001286113.1/1;CC=c.1083A>G;ProtCh=p.L361=;VC=Silent;Gene=THEMIS2/NM_001286115.1/0;CC=c.882A>G;ProtCh=p.L294=;VC=Silent;Gene=THEMIS2/NM_004848.3/0;CC=c.647-2501A>G;VC=Intron;DM=THEMIS2/CABIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:183:103:0:0:90,92,1:2975,2883,13:0.00,277.27,-0.09:0.00,110.29,-0.09:0.00,166.98,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.8,79.3,100.0:0,0,0:0,0,0:56,68,54:91,80,96:44,40,0:-,NM_001105556.1(THEMIS2) c.1470A>G (p.(=)):-,0.47:-,0.51883 1 28209362 rs3766399 T C 241 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=176;DB;DBA=NA;PAF=T/0.5256,C/0.4744;Gene=THEMIS2/NM_001039477.2/0;CC=c.236-2444T>C;VC=Intron;Gene=THEMIS2/NM_001105556.2/0;CC=c.1527T>C;ProtCh=p.V509=;VC=Silent;Gene=THEMIS2/NM_001286113.1/1;CC=c.1140T>C;ProtCh=p.V380=;VC=Silent;Gene=THEMIS2/NM_001286115.1/0;CC=c.939T>C;ProtCh=p.V313=;VC=Silent;Gene=THEMIS2/NM_004848.3/0;CC=c.647-2444T>C;VC=Intron;DM=THEMIS2/CABIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:176:98:0:0:81,95:2554,3045:241.28,0.00:89.86,0.00:151.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:93.8,6.5:0,0:0,0:86,59:59,87:27,22:NM_001105556.1(THEMIS2) c.1527T>C (p.(=)),-:0.47,-:0.524654,- 1 28209366 rs3766400 A G 232 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=170;DB;DBA=NA;PAF=A/0.5495,G/0.4505;PC=0.998;Gene=THEMIS2/NM_001039477.2/0;CC=c.236-2440A>G;VC=Intron;Gene=THEMIS2/NM_001105556.2/0;CC=c.1531A>G;ProtCh=p.K511E;VC=Missense;Gene=THEMIS2/NM_001286113.1/1;CC=c.1144A>G;ProtCh=p.K382E;VC=Missense;Gene=THEMIS2/NM_001286115.1/0;CC=c.943A>G;ProtCh=p.K315E;VC=Missense;Gene=THEMIS2/NM_004848.3/0;CC=c.647-2440A>G;VC=Intron;DM=THEMIS2/CABIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:170:97:0:0:95,75:2956,2465:0.00,231.67:0.00,80.10:0.00,151.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,91.8:0,0:0,0:67,80:81,63:27,28:-,NM_001105556.1(THEMIS2) c.1531A>G (p.Lys511Glu):-,0.45:-,0.480775 1 28209555 . G . . NT END=28211805;NT GT ./. 1 28211963 . G . . NT END=28212377;NT GT ./. 1 28212434 . G . . NT END=28218673;NT GT ./. 1 28218759 . C . . NT END=28220522;NT GT ./. 1 28220618 . C . . NT END=28220800;NT GT ./. 1 28220909 . C . . NT END=28223515;NT GT ./. 1 28223633 . C . . NT END=28224143;NT GT ./. 1 28223824 rs397783443 A AT 20 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7961,AT/0.2039;DB;DBA=NA;PAF=A/0.7961,AT/0.2039;NP=150;Gene=RPA2/NM_001286076.1/1;CC=c.121-193_121-192insA;VC=Intron;Gene=RPA2/NM_001297558.1/0;CC=c.433-193_433-192insA;VC=Intron;Gene=RPA2/NM_002946.4/0;CC=c.409-193_409-192insA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,AT:8:1:6:0:2,6:68,187:0.00,19.61:0.00,-0.60:0.00,20.21:0.00,1.00:0.00,0.83:0.00,1.00:60,70:0.0,6.0:0,0:0,0:88,126:61,23:46,15:-,NM_002946.3(RPA2) c.409-193_409-192insA:-,0.18:-,NOT_FOUND 1 28223981 . TAA T,TAAA 7 nt VT=DEL;SST=Single;DP=4;NP=2;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:TAA,TAAA,T:4:4:1:2:1,1,2:31,32,65:0.00,2.95,6.55:0.00,2.95,6.55:0.00,0.00,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.00:60,60,60:101.0,0.0,18.0:0,0,0:0,0,0:30,15,41:121,136,110:0,0,26:NM_002946.3(RPA2) c.408+161_408+162delTT,NM_002946.3(RPA2) c.408+162dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 28224219 . C . . NT END=28233438;NT GT ./. 1 28233553 . C . . NT END=28233691;NT GT ./. 1 28233572 . GA G 12 rn VT=DEL;SST=Single;DP=43;NP=78;PC=0.776;Gene=RPA2/NM_001286076.1/1;CC=c.-69-21delT;VC=Intron;Gene=RPA2/NM_001297558.1/0;CC=c.244-21delT;VC=Intron;Gene=RPA2/NM_002946.4/0;CC=c.220-21delT;VC=Intron;DM=RPA2/RPA_C;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,GA,I,G:43:30:1:6:2,35,1,5:26,1134,33,158:0.46,0.00,1.79,11.64:-0.47,0.00,1.91,8.97:0.93,0.00,-0.12,2.67:0.00,0.00,0.00,0.75:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.81:60,60,60,60:54.5,15.4,11.0,16.2:0,0,0,0:0,0,0,0:34,94,89,74:106,57,62,76:6,39,0,39:-,NM_002946.3(RPA2) c.220-21delT:-,NOT_FOUND:-,0.210543 1 28233794 . C . . NT END=28240573;NT GT ./. 1 28234082 rs28988920 A T 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9677,T/0.03235;PC=0.006;Gene=RPA2/NM_001286076.1/1;CC=c.-171-289T>A;VC=Intron;Gene=RPA2/NM_001297558.1/0;CC=c.142-289T>A;VC=Intron;Gene=RPA2/NM_002946.4/0;CC=c.118-289T>A;VC=Intron;DM=RPA2/RPA_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,T:5:0:0:0:2,3:55,79:0.00,7.85:0.00,0.00:0.00,7.85:0.00,0.78:0.00,0.00:0.00,0.78:60,60:10.5,59.0:0,0:0,0:99,117:51,34:17,32:-,NM_002946.3(RPA2) c.118-289T>A:-,0.04:-,NOT_FOUND 1 28240681 . C . . NT END=28240944;NT GT ./. 1 28241172 . G . . NT END=28261694;NT GT ./. 1 28243167 rs55647105 C T 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4746,T/0.5254;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:6:0:0:9:266:30.85:13.90:16.95:1.00:1.00:1.00:60:81.1:0:0:79:52:23:NM_002946.3(RPA2) c.-282-u1931G>A,NM_002946.3(RPA2) c.-282-u1931G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 1 28243171 rs55721837 C G 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4746,G/0.5254;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:6:0:0:9:259:30.15:13.15:17.00:1.00:1.00:1.00:60:78.6:0:0:65:80:30:NM_002946.3(RPA2) c.-282-u1935G>C,NM_002946.3(RPA2) c.-282-u1935G>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 28261756 . G . . NT END=28271742;NT GT ./. 1 28271957 . G . . NT END=28275504;NT GT ./. 1 28275674 . G . . NT END=28279725;NT GT ./. 1 28279870 . G . . NT END=28280864;NT GT ./. 1 28280012 rs11577165 G C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7746,C/0.2254;PC=0.009;Gene=SMPDL3B/NM_001009568.2/0;CC=c.517+143G>C;VC=Intron;Gene=SMPDL3B/NM_001304579.1/1;CC=c.-102+143G>C;VC=Intron;Gene=SMPDL3B/NM_014474.3/0;CC=c.517+143G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,G:8:0:0:0:4,4:125,91:12.02,0.00:0.00,0.00:12.02,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:80.0,52.2:0,0:0,0:100,32:50,114:19,15:NM_014474.2(SMPDL3B) c.517+143G>C,-:0.23,-:NOT_FOUND,- 1 28281038 . G . . NT END=28282194;NT GT ./. 1 28282206 rs3813804 C T 143 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.7598,T/0.2402;PC=0.528;Gene=SMPDL3B/NM_001009568.2/0;CC=c.702C>T;ProtCh=p.V234=;VC=Silent;Gene=SMPDL3B/NM_001304579.1/1;CC=c.84C>T;ProtCh=p.V28=;VC=Silent;Gene=SMPDL3B/NM_014474.3/0;CC=c.702C>T;ProtCh=p.V234=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:103:90:0:0:57,46:1820,1521:0.00,143.34:0.00,89.57:0.00,53.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,41.5:0,0:0,0:47,56:104,90:30,35:-,NM_014474.2(SMPDL3B) c.702C>T (p.(=)):-,0.24:-,0.254344 1 28282376 . G . . NT END=28282459;NT GT ./. 1 28282819 rs4908381 T C 210 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.06749,C/0.9325;Gene=SMPDL3B/NM_001009568.2/0;CC=c.*109T>C;VC=3UTR;Gene=SMPDL3B/NM_001304579.1/1;CC=c.387+226T>C;VC=Intron;Gene=SMPDL3B/NM_014474.3/0;CC=c.1005+226T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:C,T:57:24:0:0:55,2:1868,22:209.77,0.00:58.13,0.00:151.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,123.5:0,0:0,0:98,121:52,27:32,20:NM_014474.2(SMPDL3B) c.1005+226T>C,NM_014474.2(SMPDL3B) c.1005+226T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 28282992 . C . . NT END=28284986;NT GT ./. 1 28285350 . C . . NT END=28286580;NT GT ./. 1 28285534 rs12402958 T C 56 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.06829,C/0.9317;PC=0.003;Gene=SMPDL3B/NM_001304579.1/1;CC=c.*185T>C;VC=3UTR;Gene=SMPDL3B/NM_014474.3/0;CC=c.*185T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:0:0:0:17:481:56.12:0.00:56.12:1.00:0.00:1.00:60:44.6:0:0:70:81:33:NM_014474.2(SMPDL3B) c.=,NM_014474.2(SMPDL3B) c.=:0.93,0.93:NOT_FOUND,NOT_FOUND 1 28285632 rs12402686 A T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.06789,T/0.9321;Gene=SMPDL3B/NM_001304579.1/1;CC=c.*283A>T;VC=3UTR;Gene=SMPDL3B/NM_014474.3/0;CC=c.*283A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:159:18.28:0.00:18.28:1.00:0.00:1.00:60:62.4:0:0:132:19:18:NM_014474.2(SMPDL3B) c.=,NM_014474.2(SMPDL3B) c.=:0.93,0.93:NOT_FOUND,NOT_FOUND 1 28286874 . G . . NT END=28290007;NT GT ./. 1 28290205 . G . . NT END=28293013;NT GT ./. 1 28290231 rs4373781 C G 355 nt VT=SNV;PN=C;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=NA;Gene=XKR8/NM_018053.3/1;CC=c.490+27C>G;VC=Intron;DM=XKR8/XK-related GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:95:38:0:0:1,94:9,3123:0.00,355.28:0.00,92.94:0.00,262.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:238.0,39.1:0,0:0,0:116,109:35,34:0,24:NM_018053.2(XKR8) c.490+27C>G,NM_018053.2(XKR8) c.490+27C>G:0.83,0.83:0.908553,0.908553 1 28293712 . G . . NT END=28300976;NT GT ./. 1 28301058 . C . . NT END=28303491;NT GT ./. 1 28301217 rs12406483 C T 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7907,T/0.2093;Gene=EYA3/NM_001282561.1/0;CC=c.1504-160G>A;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.1483-160G>A;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.1642-160G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:325:37.27:0.00:37.27:1.00:0.00:1.00:60:32.5:0:0:109:42:12:NM_001990.3(EYA3) c.1642-160G>A,NM_001990.3(EYA3) c.1642-160G>A:0.21,0.21:NOT_FOUND,NOT_FOUND 1 28303901 . C . . NT END=28304884;NT GT ./. 1 28304986 . C . . NT END=28314993;NT GT ./. 1 28315168 . C . . NT END=28316207;NT GT ./. 1 28316323 . C . . NT END=28319910;NT GT ./. 1 28320072 . C . . NT END=28323830;NT GT ./. 1 28323890 . C . . NT END=28324794;NT GT ./. 1 28324863 . C . . NT END=28326470;NT GT ./. 1 28326561 . C . . NT END=28330846;NT GT ./. 1 28330931 . C . . NT END=28337457;NT GT ./. 1 28337598 . C . . NT END=28339621;NT GT ./. 1 28339288 rs6691100 G A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7851,A/0.2149;Gene=EYA3/NM_001282561.1/0;CC=c.631+334C>T;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.610+334C>T;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.769+334C>T;VC=Intron;Gene=EYA3/NM_001282560.1/0;CC=c.631+334C>T;VC=Intron;Gene=EYA3/NR_104214.1/0;VC=NonCoding;DM=EYA3/Hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:112:13.07:13.07:0.00:1.00:1.00:0.00:60:41.8:0:0:41:108:4:NM_001990.3(EYA3) c.769+334C>T,NM_001990.3(EYA3) c.769+334C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 1 28339806 . C . . NT END=28343664;NT GT ./. 1 28339933 rs6683268 A T 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7917,T/0.2083;Gene=EYA3/NM_001282561.1/0;CC=c.448-128T>A;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.427-128T>A;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.586-128T>A;VC=Intron;Gene=EYA3/NM_001282560.1/0;CC=c.448-128T>A;VC=Intron;Gene=EYA3/NR_104214.1/0;VC=NonCoding;DM=EYA3/Hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:286:33.34:0.00:33.34:1.00:0.00:1.00:60:57.0:0:0:104:46:21:NM_001990.3(EYA3) c.586-128T>A,NM_001990.3(EYA3) c.586-128T>A:0.22,0.22:NOT_FOUND,NOT_FOUND 1 28343751 . C . . NT END=28354299;NT GT ./. 1 28343897 rs2275492 G A 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7859,A/0.2141;Gene=EYA3/NM_001282561.1/0;CC=c.362-147C>T;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.341-147C>T;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.500-147C>T;VC=Intron;Gene=EYA3/NM_001282560.1/0;CC=c.362-147C>T;VC=Intron;Gene=EYA3/NR_104214.1/0;VC=NonCoding;DM=EYA3/Hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:352:40.44:0.00:40.44:1.00:0.00:1.00:60:52.7:0:0:96:54:24:NM_001990.3(EYA3) c.500-147C>T,NM_001990.3(EYA3) c.500-147C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 1 28354438 . C . . NT END=28362054;NT GT ./. 1 28362192 . C . . NT END=28365349;NT GT ./. 1 28365417 . C . . NT END=28369081;NT GT ./. 1 28369162 . C . . NT END=28374893;NT GT ./. 1 28369279 rs2476547 G A 122 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.345,A/0.655;PC=0.003;Gene=EYA3/NM_001282561.1/0;CC=c.78-118C>T;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.-2-3863C>T;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.78-118C>T;VC=Intron;Gene=EYA3/NM_001282560.1/0;CC=c.78-118C>T;VC=Intron;Gene=EYA3/NR_104214.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:0:0:0:33:1067:122.43:0.00:122.43:1.00:0.00:1.00:60:36.1:0:0:95:56:30:NM_001990.3(EYA3) c.78-118C>T,NM_001990.3(EYA3) c.78-118C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 28374815 rs7541031 C T 66 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7925,T/0.2075;Gene=EYA3/NM_001282561.1/0;CC=c.77+79G>A;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.-3+79G>A;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.77+79G>A;VC=Intron;Gene=EYA3/NM_001282560.1/0;CC=c.77+79G>A;VC=Intron;Gene=EYA3/NR_104214.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:19:0:0:19:571:66.12:59.37:6.75:1.00:1.00:1.00:60:35.1:0:0:45:103:23:NM_001990.3(EYA3) c.77+79G>A,NM_001990.3(EYA3) c.77+79G>A:0.21,0.21:0.229304,0.229304 1 28374938 . C . . NT END=28384504;NT GT ./. 1 28384563 . T . . NT END=28476503;NT GT ./. 1 28389168 rs71586821 GGT G 9 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=5;Gene=EYA3/NM_001282561.1/0;CC=c.-68-4565_-68-4564delAC;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.-147-4565_-147-4564delAC;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.-68-4565_-68-4564delAC;VC=Intron;Gene=EYA3/NM_001282560.1/0;CC=c.-68-4565_-68-4564delAC;VC=Intron;Gene=EYA3/NR_104214.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:GGT,I,G:9:8:2:3:4,2,3:139,59,95:0.00,5.11,8.80:0.00,5.28,5.76:0.00,-0.16,3.04:0.00,0.00,0.64:0.00,0.00,0.94:0.00,0.00,0.81:60,60,60:2.8,16.0,11.7:0,0,0:0,0,0:49,41,50:97,108,100:27,5,20:-,NM_001990.3(EYA3) c.-68-4565_-68-4564delAC:-,NOT_FOUND:-,NOT_FOUND 1 28389310 rs72658347 C G 20 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6282,G/0.3718;PC=0.032;Gene=EYA3/NM_001282561.1/0;CC=c.-68-4705G>C;VC=Intron;Gene=EYA3/NM_001282562.1/0;CC=c.-147-4705G>C;VC=Intron;Gene=EYA3/NM_001990.3/1;CC=c.-68-4705G>C;VC=Intron;Gene=EYA3/NM_001282560.1/0;CC=c.-68-4705G>C;VC=Intron;Gene=EYA3/NR_104214.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:175:19.88:1.99:17.90:1.00:1.00:1.00:60:35.0:0:0:87:64:18:NM_001990.3(EYA3) c.-68-4705G>C,NM_001990.3(EYA3) c.-68-4705G>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 28422847 rs2989472 C T 763 nt VT=SNV;PN=T;NN=C;SST=Single;DP=210;DB;DBA=NA;PAF=C/0.2829,T/0.7171;PC=0.035 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:210:141:0:0:1,209:10,6637:0.05,762.60:0.00,365.52:0.05,397.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.0,38.5:0,0:0,0:80,56:71,93:0,28:chr1 g.28422846C>T (intergenic),chr1 g.28422846C>T (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 1 28422967 . CT C 42 idl,rn VT=DEL;SST=Single;DP=119;NP=21;PC=0.009;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:116:49:1:20:97,1,1,17:3221,28,22,640:0.00,0.87,0.34,41.76:0.00,-0.09,-0.09,7.11:0.00,0.96,0.43,34.66:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,52,60:23.8,28.0,215.0,17.4:0,0,0,3:0,0,0,0:113,84,120,95:29,65,29,55:24,0,0,32:-,chr1 g.28422968delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 28423252 rs55714013 A G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5921,G/0.4079;NP=4;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:0:0:0:1,3:33,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,60:118.0,69.7:0,0:0,0:48,136:90,15:0,11:-,chr1 g.28423251A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 28432274 . C CGT 7 sb,rn VT=INS;SST=Single;DP=11;NP=7;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,CGT,D:11:9:3:1:7,3,1:244,87,33:0.00,7.47,2.45:0.00,0.87,1.16:0.00,6.60,1.29:0.00,0.60,0.00:0.00,0.91,0.00:0.00,0.89,0.00:60,60,60:1.4,3.7,0.0:0,0,0:0,0,0:116,76,46:35,54,105:15,14,0:-,chr1 g.28432274_28432275insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 28432399 rs536132 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3882,C/0.6118 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:35.5:0:0:85:65:20:chr1 g.28432398T>C (intergenic),chr1 g.28432398T>C (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 1 28477533 . T . . NT END=28527758;NT GT ./. 1 28527882 . C . . NT END=28530257;NT GT ./. 1 28530334 . C . . NT END=28531768;NT GT ./. 1 28531861 . C . . NT END=28534852;NT GT ./. 1 28534925 . C . . NT END=28536482;NT GT ./. 1 28536578 . C . . NT END=28537081;NT GT ./. 1 28537149 . C . . NT END=28541450;NT GT ./. 1 28541508 . C . . NT END=28555432;NT GT ./. 1 28555535 . C . . NT END=28559431;NT GT ./. 1 28559510 . T . . NT END=28562694;NT GT ./. 1 28562782 . G . . NT END=28562871;NT GT ./. 1 28563774 rs150962012 A G 111 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.9932,G/0.006789;NP=15;Gene=ATPIF1/NM_016311.4/0;CC=c.180-574A>G;VC=Intron;Gene=ATPIF1/NM_178190.2/1;CC=c.180-498A>G;VC=Intron;Gene=ATPIF1/NM_178191.2/0;CC=c.*807A>G;VC=3UTR;DM=ATPIF1/IATP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:39:0:0:37,36:1131,1154:0.00,110.58:0.00,46.01:0.00,64.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,48.0:0,0:0,0:51,60:99,90:33,36:-,NM_016311.4(ATPIF1) c.180-574A>G:-,0.01:-,NOT_FOUND 1 28564490 . G . . NT END=28586358;NT GT ./. 1 28586449 . G . . NT END=28595693;NT GT ./. 1 28595760 . G . . NT END=28598184;NT GT ./. 1 28598049 rs142493658 CTCCCCATTCTT C 17 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CTCCCCATTCTT/0.9892,C/0.01078;NP=23;Gene=SESN2/NM_031459.4/1;CC=c.157-133_157-123delCCCATTCTTTC;VC=Intron;DM=SESN2/PA26;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:CTCCCCATTCTT,C:14:14:0:6:8,6:237,183:0.00,17.01:0.00,17.01:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:23.4,19.3:0,0:0,0:51,58:98,92:36,18:-,NM_031459.4(SESN2) c.157-135_157-125delTCCCCATTCTT:-,0.01:-,NOT_FOUND 1 28598383 . G . . NT END=28598794;NT GT ./. 1 28598978 . G . . NT END=28599091;NT GT ./. 1 28599305 . G . . NT END=28599868;NT GT ./. 1 28600020 . G . . NT END=28600550;NT GT ./. 1 28600670 . G . . NT END=28601335;NT GT ./. 1 28601527 . G . . NT END=28605607;NT GT ./. 1 28605753 . G . . NT END=28607226;NT GT ./. 1 28607314 . C . . NT END=28657173;NT GT ./. 1 28657247 . G . . NT END=28660906;NT GT ./. 1 28661482 . C . . NT END=28733958;NT GT ./. 1 28733975 . G . . NT END=28759533;NT GT ./. 1 28759425 rs66647759 A AT 31 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3059,AT/0.6941;DB;DBA=NA;PAF=A/0.3059,AT/0.6941;NP=18;NP=330;PC=0.005;Gene=PHACTR4/NM_001048183.1/1;CC=c.16+25463_16+25464insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:AT:9:11:11:0:9:340:31.30:31.30:0.00:1.00:1.00:0.00:60:22.8:2:0:59:91:30:NM_023923.3(PHACTR4) c.-235-u5236_-235-u5235insT,NM_023923.3(PHACTR4) c.-235-u5236_-235-u5235insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 28759558 . G . . NT END=28764660;NT GT ./. 1 28764942 . G . . NT END=28784342;NT GT ./. 1 28784371 . G . . NT END=28785595;NT GT ./. 1 28784429 rs545528999 G GT 9 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9982,T/0.001797;PC=0.290;Gene=PHACTR4/NM_001048183.1/1;CC=c.17-1154dupT;VC=Intron;Gene=PHACTR4/NM_023923.3/0;CC=c.47-1154dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,GT,D:30:15:5:1:25,4,1:810,150,34:0.00,9.45,2.03:0.00,1.72,1.09:0.00,7.73,0.94:0.00,0.64,0.00:0.00,0.80,0.00:0.00,0.94,0.00:60,60,60:11.3,47.5,0.0:0,1,0:0,0,0:121,101,109:24,43,42:26,16,0:-,NM_023923.3(PHACTR4) c.47-1167_47-1166insT:-,NOT_FOUND:-,NOT_FOUND 1 28785770 . G . . NT END=28786722;NT GT ./. 1 28786793 rs75590636 C T 32 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9924,T/0.007588;PC=0.939;Gene=PHACTR4/NM_001048183.1/1;CC=c.261C>T;ProtCh=p.D87=;VC=Silent;Gene=PHACTR4/NM_023923.3/0;CC=c.291C>T;ProtCh=p.D97=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:31:16:0:0:1,19,11:9,618,355:-0.05,0.00,32.17:-0.09,0.00,11.47:0.04,0.00,20.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:161.0,4.8,38.9:0,0,0:0,0,0:100,103,75:46,48,76:0,27,30:-,NM_023923.3(PHACTR4) c.291C>T (p.(=)):-,0.01:-,0.01563 1 28786804 . G . . NT END=28792195;NT GT ./. 1 28792361 . G . . NT END=28792892;NT GT ./. 1 28793149 rs61748637 C G 177 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.9485,G/0.05152;PC=1.000;Gene=PHACTR4/NM_001048183.1/1;CC=c.693C>G;ProtCh=p.P231=;VC=Silent;Gene=PHACTR4/NM_023923.3/0;CC=c.723C>G;ProtCh=p.P241=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:112:63:0:0:54,58:1817,1834:0.00,177.18:0.00,69.45:0.00,107.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,40.2:0,0:0,0:73,85:71,64:36,35:-,NM_023923.3(PHACTR4) c.723C>G (p.(=)):-,0.05:-,0.052428 1 28793280 . G . . NT END=28800065;NT GT ./. 1 28793890 rs368639587 TTG T 7 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=18;PC=0.004;Gene=PHACTR4/NM_001048183.1/1;CC=c.823+649_823+650delGT;VC=Intron;Gene=PHACTR4/NM_023923.3/0;CC=c.853+649_853+650delGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:TTG,T:6:6:0:3:3,3:86,78:0.00,7.42:0.00,4.80:0.00,2.63:0.00,0.73:0.00,0.73:0.00,0.89:60,60:13.7,31.0:0,0:0,0:126,40:25,77:2,7:-,NM_023923.3(PHACTR4) c.853+612_853+613delTG:-,NOT_FOUND:-,NOT_FOUND 1 28800664 . G . . NT END=28802618;NT GT ./. 1 28802804 . G . . NT END=28806962;NT GT ./. 1 28807117 . G . . NT END=28815681;NT GT ./. 1 28815738 . G . . NT END=28817462;NT GT ./. 1 28817525 . G . . NT END=28818161;NT GT ./. 1 28818300 . G . . NT END=28819526;NT GT ./. 1 28819604 . G . . NT END=28823045;NT GT ./. 1 28823062 . T . . NT END=28856378;NT GT ./. 1 28856452 . G . . NT END=28857034;NT GT ./. 1 28857128 . G . . NT END=28858314;NT GT ./. 1 28858503 . G . . NT END=28858682;NT GT ./. 1 28858863 . G . . NT END=28861561;NT GT ./. 1 28861659 . G . . NT END=28861769;NT GT ./. 1 28861893 . G . . NT END=28862382;NT GT ./. 1 28862539 . G . . NT END=28862773;NT GT ./. 1 28862894 . G . . NT END=28863258;NT GT ./. 1 28863412 . G . . NT END=28864343;NT GT ./. 1 28864520 . T . . NT END=28879622;NT GT ./. 1 28879650 . G . . NT END=28880151;NT GT ./. 1 28880250 . G . . NT END=28887144;NT GT ./. 1 28887245 . G . . NT END=28887624;NT GT ./. 1 28887773 . g . . NT END=28887857;NT GT ./. 1 28887911 . G . . NT END=28891214;NT GT ./. 1 28891347 . G . . NT END=28893805;NT GT ./. 1 28893926 . G . . NT END=28897687;NT GT ./. 1 28897851 . G . . NT END=28898378;NT GT ./. 1 28898413 . G . . NT END=28904011;NT GT ./. 1 28904149 . C . . NT END=28919023;NT GT ./. 1 28919257 . G . . NT END=28920205;NT GT ./. 1 28920630 . C . . NT END=28930050;NT GT ./. 1 28929961 . T TA 7 rn VT=INS;SST=Single;DP=32;NP=3;NP=4;PC=1.000;Gene=TAF12/NM_001135218.1/0;CC=c.*89dupT;VC=3UTR;Gene=TAF12/NM_005644.3/1;CC=c.*89dupT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TA,D:32:29:3:2:27,3,2:850,94,63:0.00,6.60,4.09:0.00,6.77,4.20:0.00,-0.17,-0.11:0.00,0.41,0.00:0.00,0.86,0.00:0.00,0.38,0.00:60,60,60:11.8,13.3,14.0:0,0,0:0,0,0:32,58,31:119,93,119:22,25,13:-,NM_001135218.1(TAF12) c.*89dupT:-,NOT_FOUND:-,NOT_FOUND 1 28930087 . C . . NT END=28931883;NT GT ./. 1 28931973 . C . . NT END=28939758;NT GT ./. 1 28939874 . C . . NT END=28944464;NT GT ./. 1 28944543 . C . . NT END=28948425;NT GT ./. 1 28948678 . C . . NT END=28950457;NT GT ./. 1 28950543 . C . . NT END=28969166;NT GT ./. 1 28969314 rs4252958 A G 844 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=A/0.04573,G/0.9543;PC=0.014;Gene=TAF12/NM_001135218.1/0;CC=c.-232T>C;VC=5UTR;Gene=TAF12/NM_005644.3/1;CC=c.-85+190T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:235:165:0:0:1,233,1:6,7350,10:0.00,843.77,0.04:0.00,473.47,0.04:0.00,370.30,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,45.3,97.0:0,0,0:0,0,0:57,73,88:94,76,62:0,39,0:NM_001135218.1(TAF12) c.-232T>C,NM_001135218.1(TAF12) c.-232T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 28969614 . C . . NT END=28974716;NT GT ./. 1 28974500 rs556200916 TA T 9 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=22;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,TA,I,T:21:21:1:4:1,15,1,4:10,454,32,116:0.03,0.00,2.04,9.26:0.03,0.00,2.04,9.26:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.00:60,60,60,60:10.0,10.7,0.0,40.5:0,0,0,0:0,0,0,0:64,41,14,35:87,110,136,116:0,30,0,13:-,NM_001135218.1(TAF12) c.-522-u4897delT:-,NOT_FOUND:-,NOT_FOUND 1 28974873 . T . . NT END=29010124;NT GT ./. 1 29010253 . G . . NT END=29016585;NT GT ./. 1 29016699 . G . . NT END=29018096;NT GT ./. 1 29016715 rs530208123 G GT 23 sb;idl,rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.8458,T/0.1542;NP=13;NP=4;PC=0.518;Gene=GMEB1/NM_006582.3/0;CC=c.241+38_241+39insT;VC=Intron;Gene=GMEB1/NM_024482.2/1;CC=c.211+38_211+39insT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:34:10:13:1:22,2,9,1:584,43,384,33:0.00,2.36,23.01,1.95:0.00,-0.19,-0.94,-0.09:0.00,2.55,23.95,2.04:0.00,0.00,0.99,0.00:0.00,0.00,0.90,0.00:0.00,0.00,1.00,0.00:60,60,70,60:25.9,77.5,34.8,0.0:1,0,4,0:0,0,0,0:123,80,86,98:21,71,60,53:16,23,28,0:-,NM_024482.2(GMEB1) c.211+17_211+18insT:-,NOT_FOUND:-,NOT_FOUND 1 29017659 rs10915186 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.525,T/0.475;PC=0.003;Gene=GMEB1/NM_006582.3/0;CC=c.242-438C>T;VC=Intron;Gene=GMEB1/NM_024482.2/1;CC=c.212-438C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:113:13.19:11.15:2.04:1.00:1.00:1.00:60:35.5:0:0:75:74:24:NM_024482.2(GMEB1) c.212-438C>T,NM_024482.2(GMEB1) c.212-438C>T:0.45,0.45:NOT_FOUND,NOT_FOUND 1 29018222 . G . . NT END=29019453;NT GT ./. 1 29018316 rs71586854 TTTTA T 17 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=31;PC=0.002;Gene=GMEB1/NM_006582.3/0;CC=c.366+139_366+142delATTT;VC=Intron;Gene=GMEB1/NM_024482.2/1;CC=c.336+139_336+142delATTT;VC=Intron;DM=GMEB1/SAND;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:TTTTA,T:24:5:0:8:17,7:534,229:0.00,16.54:0.00,-0.43:0.00,16.97:0.00,0.96:0.00,0.80:0.00,1.00:60,60:5.2,17.3:0,1:0,0:136,81:15,66:4,12:-,NM_024482.2(GMEB1) c.336+96_336+99delTTTA:-,NOT_FOUND:-,NOT_FOUND 1 29019558 . G . . NT END=29023438;NT GT ./. 1 29023597 . G . . NT END=29028949;NT GT ./. 1 29029082 . G . . NT END=29030703;NT GT ./. 1 29030842 . G . . NT END=29037031;NT GT ./. 1 29037155 . G . . NT END=29040584;NT GT ./. 1 29037281 rs3214953 TA T 7 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.313;Gene=GMEB1/NM_006582.3/0;CC=c.1021+137delA;VC=Intron;Gene=GMEB1/NM_024482.2/1;CC=c.991+137delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,TA,T:21:3:0:3:1,17,3:11,458,93:0.06,0.00,7.07:-0.05,0.00,-0.17:0.11,0.00,7.24:0.00,0.00,0.49:0.00,0.00,0.42:0.00,0.00,0.89:60,60,60:11.0,30.7,7.7:0,0,0:0,0,0:3,120,92:148,30,59:0,28,2:-,NM_024482.2(GMEB1) c.991+128delA:-,0.02:-,NOT_FOUND 1 29041286 . C . . NT END=29063632;NT GT ./. 1 29063559 rs6697540 A C 357 nt VT=SNV;PN=G;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.03874,C/0.9613;PC=0.027;Gene=YTHDF2/NM_001173128.1/1;CC=c.-74A>C;VC=5UTR;Gene=YTHDF2/NM_016258.2/0;CC=c.-74A>C;VC=5UTR;Gene=YTHDF2/NM_001172828.1/0;CC=c.-199A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:94:85:0:0:94:3122:356.84:260.77:96.07:1.00:1.00:1.00:60:40.9:0:0:41:105:27:NM_001173128.1(YTHDF2) c.=,NM_001173128.1(YTHDF2) c.=:0.96,0.96:NOT_FOUND,NOT_FOUND 1 29063661 . T . . NT END=29064169;NT GT ./. 1 29064195 . G . . NT END=29064770;NT GT ./. 1 29064851 . G . . NT END=29068914;NT GT ./. 1 29068754 rs80290977 G A 92 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9217,A/0.07827;Gene=YTHDF2/NM_001173128.1/1;CC=c.133-161G>A;VC=Intron;Gene=YTHDF2/NM_016258.2/0;CC=c.133-161G>A;VC=Intron;Gene=YTHDF2/NM_001172828.1/0;CC=c.-18-161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:25:0:0:25:801:91.98:91.98:0.00:1.00:1.00:0.00:60:42.4:0:0:69:81:28:NM_001173128.1(YTHDF2) c.133-161G>A,NM_001173128.1(YTHDF2) c.133-161G>A:0.07,0.07:NOT_FOUND,NOT_FOUND 1 29070499 . G . . NT END=29095440;NT GT ./. 1 29095465 . A . . NT END=29138895;NT GT ./. 1 29138975 rs1042114 G T 551 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.05551,T/0.9445;PC=0.002;Gene=OPRD1/NM_000911.3/1;CC=c.80G>T;ProtCh=p.C27F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:152:105:0:0:1,151:10,4794:0.07,550.77:0.00,269.79:0.07,280.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,36.9:0,0:0,0:0,71:151,76:0,39:NM_000911.3(OPRD1) c.80G>T (p.Cys27Phe),NM_000911.3(OPRD1) c.80G>T (p.Cys27Phe):0.93,0.93:0.91579,0.91579 1 29139123 . G . . NT END=29185465;NT GT ./. 1 29185313 rs112411290 C T 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8169,T/0.1831;Gene=OPRD1/NM_000911.3/1;CC=c.228-153C>T;VC=Intron;DM=OPRD1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:18:17:0:0:12,6:339,197:0.00,17.61:0.00,17.79:0.00,-0.18:0.00,0.94:0.00,1.00:0.00,0.56:60,60:11.2,50.0:0,0:0,0:59,43:92,107:45,21:-,NM_000911.3(OPRD1) c.228-153C>T:-,0.17:-,NOT_FOUND 1 29185816 . G . . NT END=29189253;NT GT ./. 1 29189597 rs2234918 C T 233 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=188;DB;DBA=NA;PAF=C/0.4187,T/0.5813;PC=0.990;Gene=OPRD1/NM_000911.3/1;CC=c.921C>T;ProtCh=p.G307=;VC=Silent;DM=OPRD1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:188:116:0:0:1,105,82:11,3437,2493:-0.16,0.00,232.67:-0.12,0.00,98.87:-0.04,0.00,133.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:134.0,8.1,39.8:0,0,0:0,0,0:62,80,76:89,67,73:0,36,44:-,NM_000911.3(OPRD1) c.921C>T (p.(=)):-,0.59:-,0.471009 1 29189796 . C . . NT END=29198830;NT GT ./. 1 29198910 . C . . NT END=29213793;NT GT ./. 1 29214206 . C . . NT END=29216297;NT GT ./. 1 29216375 . C . . NT END=29217414;NT GT ./. 1 29216517 rs561598837 ATTTTATTTTTAT A 27 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=ATTTTATTTTTAT/0.2764,A/0.7236;DB;DBA=NA;PAF=ATTTTATTTTTAT/0.2764,A/0.7236;NP=330;PC=0.003;Gene=EPB41/NM_001166005.1/0;CC=c.-8+2811_-8+2822delTATTTTTATTTT;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.-618+2811_-618+2822delTATTTTTATTTT;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.-698+2811_-698+2822delTATTTTTATTTT;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.-715+2811_-715+2822delTATTTTTATTTT;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.-8+2811_-8+2822delTATTTTTATTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTTTATTTTTAT,A:24:0:0:9:15,9:411,293:0.00,26.74:0.00,0.00:0.00,26.74:0.00,1.00:0.00,0.00:0.00,1.00:60,70:16.2,0.0:0,0:0,0:93,121:58,30:26,7:-,NM_203342.2(EPB41) c.-715+2796_-715+2807delTTTTATTTTTAT:-,NOT_FOUND:-,NOT_FOUND 1 29217516 . C . . NT END=29228725;NT GT ./. 1 29228831 rs150093 C T 414 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.04633,T/0.9537;PC=1.000;Gene=EPB41/NM_001166005.1/0;CC=c.-8+15109C>T;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.-618+15109C>T;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.-698+15109C>T;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.-715+15109C>T;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.-8+15109C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:108:71:0:0:108:3628:414.21:195.64:218.56:1.00:1.00:1.00:60:39.6:0:0:80:68:35:NM_203342.2(EPB41) c.-715+15109C>T,NM_203342.2(EPB41) c.-715+15109C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 29228866 . C . . NT END=29237529;NT GT ./. 1 29237651 . T . . NT END=29313949;NT GT ./. 1 29314418 . G . . NT END=29315867;NT GT ./. 1 29315948 . G . . NT END=29319841;NT GT ./. 1 29320013 rs111642750 G A 118 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.9844,A/0.01558;PC=1.000;Gene=EPB41/NM_001166005.1/0;CC=c.640G>A;ProtCh=p.V214I;VC=Missense;Gene=EPB41/NM_001166007.1/0;CC=c.13G>A;ProtCh=p.V5I;VC=Missense;Gene=EPB41/NM_004437.3/0;CC=c.13G>A;ProtCh=p.V5I;VC=Missense;Gene=EPB41/NM_203342.2/1;CC=c.13G>A;ProtCh=p.V5I;VC=Missense;Gene=EPB41/NM_203343.2/0;CC=c.640G>A;ProtCh=p.V214I;VC=Missense;Gene=EPB41/NM_001166006.1/0;CC=c.640G>A;ProtCh=p.V214I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:49:0:0:38,40:1234,1279:118.05,0.00:56.30,0.00:61.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,9.6:0,0:0,0:77,72:65,69:35,28:NM_203342.2(EPB41) c.13G>A (p.Val5Ile),-:0.02,-:0.037829,- 1 29320055 . G . . NT END=29323726;NT GT ./. 1 29320169 rs397955834 C CTT 13 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.822;Gene=EPB41/NM_001166005.1/0;CC=c.681+132_681+133insTT;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.54+132_54+133insTT;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.54+132_54+133insTT;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.54+132_54+133insTT;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.681+132_681+133insTT;VC=Intron;Gene=EPB41/NM_001166006.1/0;CC=c.681+132_681+133insTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T,CTT,D:24:0:7:1:17,1,5,1:507,32,227,32:0.00,1.97,13.43,1.97:0.00,0.00,0.00,0.00:0.00,1.97,13.43,1.97:0.00,0.00,0.82,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.82,0.00:60,60,60,60:25.7,162.0,41.8,0.0:0,0,2,0:0,0,0,0:131,127,108,78:18,24,43,59:9,0,13,0:-,NM_203342.2(EPB41) c.54+115_54+116insTT:-,NOT_FOUND:-,NOT_FOUND 1 29323832 . G . . NT END=29338376;NT GT ./. 1 29338420 . G . . NT END=29342203;NT GT ./. 1 29342090 . GA G 8 rn VT=DEL;SST=Single;DP=11;NP=5;Gene=EPB41/NM_001166005.1/0;CC=c.830-102delA;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.203-102delA;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.203-102delA;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.203-102delA;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.725-102delA;VC=Intron;Gene=EPB41/NM_001166006.1/0;CC=c.830-102delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:GA,G:11:11:0:3:8,3:274,97:0.00,8.33:0.00,8.40:0.00,-0.07:0.00,0.60:0.00,0.60:0.00,0.52:60,60:3.2,0.0:0,0:0,0:38,13:111,137:11,7:-,NM_203342.2(EPB41) c.203-113delA:-,NOT_FOUND:-,NOT_FOUND 1 29342280 . G . . NT END=29344735;NT GT ./. 1 29344955 . G . . NT END=29356911;NT GT ./. 1 29345009 rs5773229 C CTT 56 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.07228,CTT/0.9277;NP=2503;Gene=EPB41/NM_001166005.1/0;CC=c.1124+55_1124+56insTT;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.497+55_497+56insTT;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.497+55_497+56insTT;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.497+55_497+56insTT;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.1019+55_1019+56insTT;VC=Intron;Gene=EPB41/NM_001166006.1/0;CC=c.1124+55_1124+56insTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTT:41:7:19:0:22,19:692,589:0.00,55.69:0.00,6.09:0.00,49.60:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.7,38.6:0,0:0,0:65,80:86,71:45,38:-,NM_203342.2(EPB41) c.497+55_497+56insTT:-,NOT_FOUND:-,NOT_FOUND 1 29345027 rs2985334 T G 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.1484,G/0.8516;Gene=EPB41/NM_001166005.1/0;CC=c.1124+73T>G;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.497+73T>G;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.497+73T>G;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.497+73T>G;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.1019+73T>G;VC=Intron;Gene=EPB41/NM_001166006.1/0;CC=c.1124+73T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:3:0:0:16,18:540,581:51.42,0.00:5.09,0.00:46.34,0.00:1.00,0.00:0.86,0.00:1.00,0.00:60,60:40.4,5.9:0,0:0,0:99,71:51,80:29,19:NM_203342.2(EPB41) c.497+73T>G,-:0.83,-:NOT_FOUND,- 1 29356663 rs10915216 T A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5984,A/0.4016;Gene=EPB41/NM_001166005.1/0;CC=c.1125-249T>A;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.498-249T>A;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.498-249T>A;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.498-249T>A;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.1020-249T>A;VC=Intron;Gene=EPB41/NM_001166006.1/0;CC=c.1125-249T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,T:4:4:0:0:2,2:68,66:6.55,0.00:6.55,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:44.5,0.0:0,0:0,0:70,26:80,123:23,17:NM_203342.2(EPB41) c.498-249T>A,-:0.42,-:NOT_FOUND,- 1 29357000 . G . . NT END=29359604;NT GT ./. 1 29359758 . G . . NT END=29362337;NT GT ./. 1 29362436 . G . . NT END=29365765;NT GT ./. 1 29365939 . G . . NT END=29379615;NT GT ./. 1 29379825 . G . . NT END=29385100;NT GT ./. 1 29385158 . G . . NT END=29385322;NT GT ./. 1 29385365 . G . . NT END=29386933;NT GT ./. 1 29385648 rs2153166 G A 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5968,A/0.4032;Gene=EPB41/NM_001166005.1/0;CC=c.1944+284G>A;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.1218+5824G>A;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.1219-1286G>A;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.1275+491G>A;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.1740+5824G>A;VC=Intron;Gene=EPB41/NM_001166006.1/0;CC=c.1902+491G>A;VC=Intron;DM=EPB41/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:4:1:0:0:2,2:66,66:6.35,0.00:-0.30,0.00:6.65,0.00:0.51,0.00:0.67,0.00:0.89,0.00:60,60:33.0,13.0:0,0:0,0:126,40:24,111:7,5:NM_203342.2(EPB41) c.1275+491G>A,-:0.42,-:NOT_FOUND,- 1 29386997 . G . . NT END=29391493;NT GT ./. 1 29391734 . T . . NT END=29395244;NT GT ./. 1 29395296 . G . . NT END=29395677;NT GT ./. 1 29395984 . G . . NT END=29396875;NT GT ./. 1 29396218 rs10753332 T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2861,C/0.7139;Gene=EPB41/NM_001166005.1/0;CC=c.2184+4548T>C;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.1395+4548T>C;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.1458+4548T>C;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.1515+4548T>C;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.1917+4548T>C;VC=Intron;DM=EPB41/FA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:84:10.23:0.00:10.23:1.00:0.00:1.00:60:60.5:0:0:108:43:25:NM_203342.2(EPB41) c.1515+4548T>C,NM_203342.2(EPB41) c.1515+4548T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 29397191 . G . . NT END=29422666;NT GT ./. 1 29423117 . G . . NT END=29424318;NT GT ./. 1 29423345 rs369079106 G GTCTT 17 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3163,GTCTT/0.6837;DB;DBA=NA;PAF=NA;NP=8;Gene=EPB41/NM_001166005.1/0;CC=c.2185-973_2185-972insCTTT;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.1396-973_1396-972insCTTT;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.1459-973_1459-972insCTTT;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.1516-973_1516-972insCTTT;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.1918-973_1918-972insCTTT;VC=Intron;DM=EPB41/FA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,GTCTT:7:0:5:0:2,5:66,161:0.00,16.67:0.00,0.00:0.00,16.67:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,6.2:0,0:0,0:142,121:2,28:0,15:-,NM_203342.2(EPB41) c.1516-974_1516-973insTCTT:-,NOT_FOUND:-,NOT_FOUND 1 29424448 . G . . NT END=29435847;NT GT ./. 1 29435950 . G . . NT END=29438879;NT GT ./. 1 29438961 . G . . NT END=29442210;NT GT ./. 1 29439016 rs4654390 T A 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5974,A/0.4026;PC=0.001;Gene=EPB41/NM_001166005.1/0;CC=c.2496+56T>A;VC=Intron;Gene=EPB41/NM_001166007.1/0;CC=c.1707+56T>A;VC=Intron;Gene=EPB41/NM_004437.3/0;CC=c.1668+56T>A;VC=Intron;Gene=EPB41/NM_203342.2/1;CC=c.1827+56T>A;VC=Intron;Gene=EPB41/NM_203343.2/0;CC=c.2229+56T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:7:0:0:12,11:413,381:40.11,0.00:8.45,0.00:31.66,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:35.4,21.7:0,0:0,0:113,100:38,51:16,19:NM_203342.2(EPB41) c.1827+56T>A,-:0.42,-:0.393561,- 1 29442310 . G . . NT END=29447416;NT GT ./. 1 29448341 . C . . NT END=29474921;NT GT ./. 1 29448596 rs112665256 G T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9289,T/0.07109;Gene=TMEM200B/NM_001171868.1/1;CC=c.-20-236C>A;VC=Intron;Gene=TMEM200B/NM_001003682.3/0;CC=c.-20-236C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:G,T:9:0:0:0:4,5:130,166:0.00,16.30:0.00,0.00:0.00,16.30:0.00,0.96:0.00,0.00:0.00,0.96:60,60:10.2,52.0:0,0:0,0:115,114:36,37:18,11:-,NM_001171868.1(TMEM200B) c.-20-236C>A:-,0.09:-,NOT_FOUND 1 29475235 . C . . NT END=29475528;NT GT ./. 1 29475341 rs2230678 C T 91 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.505,T/0.495;PC=0.964;Gene=SRSF4/NM_005626.4/1;CC=c.1066G>A;ProtCh=p.G356S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:15:0:0:13,27:421,893:0.00,91.22:0.00,42.01:0.00,49.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,67.3:0,0:0,0:110,92:41,58:36,43:-,NM_005626.4(SRSF4) c.1066G>A (p.Gly356Ser):-,0.52:-,0.734154 1 29475394 rs2230677 C G 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5048,A/.,G/0.4952,T/.;PC=0.064;Gene=SRSF4/NM_005626.4/1;CC=c.1013G>C;ProtCh=p.G338A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:30:19:0:0:10,20:314,547:0.00,55.77:0.00,42.06:0.00,13.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.5,90.7:0,0:0,0:62,76:88,73:41,35:-,NM_005626.4(SRSF4) c.1013G>C (p.Gly338Ala):-,0.52:-,0.733964 1 29475648 rs2230679 T G 694 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=183;DB;DBA=NA;PAF=T/0.2798,G/0.7202;PC=0.001;Gene=SRSF4/NM_005626.4/1;CC=c.759A>C;ProtCh=p.E253D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:183:144:0:0:182,1:6101,19:694.36,0.00:365.28,0.00:329.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,69.0:0,0:0,0:85,51:62,69:29,0:NM_005626.4(SRSF4) c.759A>C (p.Glu253Asp),NM_005626.4(SRSF4) c.759A>C (p.Glu253Asp):0.74,0.74:0.8493,0.8493 1 29475739 . C . . NT END=29476614;NT GT ./. 1 29476705 . C . . NT END=29481207;NT GT ./. 1 29481423 . C . . NT END=29485885;NT GT ./. 1 29485999 . C . . NT END=29486886;NT GT ./. 1 29486128 rs113292219 C T 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9834,T/0.01657;PC=1.000;Gene=SRSF4/NM_005626.4/1;CC=c.251-130G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:9,11:275,304:0.00,29.64:0.00,0.00:0.00,29.64:0.00,1.00:0.00,0.00:0.00,1.00:60,60:41.8,54.0:0,0:0,0:114,66:31,85:16,33:-,NM_005626.4(SRSF4) c.251-130G>A:-,0.02:-,NOT_FOUND 1 29487030 . C . . NT END=29508157;NT GT ./. 1 29508265 . C . . NT END=29520533;NT GT ./. 1 29508350 rs571016 C T 82 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.8724,G/.,T/0.1276;PC=1.000;Gene=SRSF4/NM_005626.4/1;CC=c.-86G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:16:0:0:32,26:996,871:0.00,82.18:0.00,8.33:0.00,73.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,37.7:0,0:0,0:84,103:63,40:39,31:-,NM_005626.4(SRSF4) c.-86G>A:-,0.16:-,NOT_FOUND 1 29508621 rs2428557 C A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2819,A/0.7181;PC=0.001;Gene=SRSF4/NM_005626.4/1;CC=c.-357G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:141:16.01:0.00:16.01:1.00:0.00:1.00:60:35.2:0:0:90:60:36:NM_005626.4(SRSF4) c.-357G>T,NM_005626.4(SRSF4) c.-357G>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 29520692 . C . . NT END=29522452;NT GT ./. 1 29522384 rs2291611 G A 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7953,A/0.2047;PC=1.000;Gene=MECR/NM_001024732.2/0;CC=c.736+69C>T;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.964+69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:37:0:0:17,22:534,707:49.91,0.00:39.02,0.00:10.88,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.7,16.3:0,0:0,0:40,53:111,97:29,41:NM_016011.2(MECR) c.964+69C>T,-:0.19,-:NOT_FOUND,- 1 29522526 . C . . NT END=29522709;NT GT ./. 1 29522771 . C . . NT END=29527023;NT GT ./. 1 29527102 . C . . NT END=29528454;NT GT ./. 1 29528558 . C . . NT END=29529642;NT GT ./. 1 29529699 rs1062924 T C 268 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.2532,C/0.7468;PC=0.808;Gene=MECR/NM_001024732.2/0;CC=c.369A>G;ProtCh=p.A123=;VC=Silent;Gene=MECR/NM_016011.3/1;CC=c.597A>G;ProtCh=p.A199=;VC=Silent;DM=MECR/ADH_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:73:56:0:0:73:2331:267.83:143.41:124.43:1.00:1.00:1.00:60:40.0:0:0:86:57:20:NM_016011.2(MECR) c.597A>G (p.(=)),NM_016011.2(MECR) c.597A>G (p.(=)):0.76,0.76:0.876327,0.876327 1 29529746 . C . . NT END=29533273;NT GT ./. 1 29533080 rs2503017 A G 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7881,G/0.2119;Gene=MECR/NM_001024732.2/0;CC=c.322+194T>C;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.550+194T>C;VC=Intron;DM=MECR/ADH_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:13:13:0:0:4,9:107,273:0.00,28.11:0.00,28.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:51.8,36.2:0,0:0,0:12,34:139,117:5,17:-,NM_016011.2(MECR) c.550+194T>C:-,0.23:-,NOT_FOUND 1 29533418 . C . . NT END=29542516;NT GT ./. 1 29533601 rs2452785 C T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5054,T/0.4946;Gene=MECR/NM_001024732.2/0;CC=c.179-184G>A;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.407-184G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T:11:0:0:0:4,7:132,230:0.00,23.21:0.00,0.00:0.00,23.21:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,43.7:0,0:0,0:145,112:6,37:2,14:-,NM_016011.2(MECR) c.407-184G>A:-,0.52:-,NOT_FOUND 1 29542435 rs2640469 C G 225 nt VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.1102,G/0.8898;PC=0.111;Gene=MECR/NM_001024732.2/0;CC=c.178+82G>C;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.406+82G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:G:62:58:0:0:62:1960:225.42:184.57:40.84:1.00:1.00:1.00:60:40.4:0:0:42:108:28:NM_016011.2(MECR) c.406+82G>C,NM_016011.2(MECR) c.406+82G>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 29542637 rs1128400 A G 374 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.2819,G/0.7181;PC=0.908;Gene=MECR/NM_001024732.2/0;CC=c.58T>C;ProtCh=p.F20L;VC=Missense;Gene=MECR/NM_016011.3/1;CC=c.286T>C;ProtCh=p.F96L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:100:56:0:0:100:3262:373.73:157.01:216.72:1.00:1.00:1.00:60:40.8:0:0:97:53:27:NM_016011.2(MECR) c.286T>C (p.Phe96Leu),NM_016011.2(MECR) c.286T>C (p.Phe96Leu):0.74,0.74:0.848839,0.848839 1 29542649 . C . . NT END=29543099;NT GT ./. 1 29542926 rs3003636 A T 58 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2819,T/0.7181;PC=0.054;Gene=MECR/NM_001024732.2/0;CC=c.46+174T>A;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.274+174T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:10:0:0:16:508:58.38:38.87:19.51:1.00:1.00:1.00:60:46.7:0:0:61:90:32:NM_016011.2(MECR) c.274+174T>A,NM_016011.2(MECR) c.274+174T>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 29543325 . C . . NT END=29547345;NT GT ./. 1 29543404 rs111326964 T C 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.7951,C/0.2049;PC=0.004;Gene=MECR/NM_001024732.2/0;CC=c.-179-80A>G;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.177-207A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:6:0:0:23,27:652,859:61.11,0.00:7.55,0.00:53.56,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:38.2,8.6:0,0:0,0:118,104:33,47:19,20:NM_016011.2(MECR) c.177-207A>G,-:0.2,-:NOT_FOUND,- 1 29547434 . C . . NT END=29549651;NT GT ./. 1 29549670 rs2640470 A G 474 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.2819,G/0.7181;PC=0.001;Gene=MECR/NM_001024732.2/0;CC=c.-179-6346T>C;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.177-6473T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:125:97:0:0:1,124:32,4170:0.00,473.55:0.00,255.68:0.00,217.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,40.4:0,0:0,0:148,75:1,63:0,33:NM_016011.2(MECR) c.177-6473T>C,NM_016011.2(MECR) c.177-6473T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 29549773 . C . . NT END=29557242;NT GT ./. 1 29549996 rs2319014 A C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7943,C/0.2057;Gene=MECR/NM_001024732.2/0;CC=c.-179-6672T>G;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.177-6799T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C:8:0:0:0:5,3:155,88:0.00,7.93:0.00,0.00:0.00,7.93:0.00,0.67:0.00,0.00:0.00,0.67:60,60:2.8,70.0:0,0:0,0:117,100:32,51:24,38:-,NM_016011.2(MECR) c.177-6799T>G:-,0.2:-,NOT_FOUND 1 29557224 rs2640466 C T 266 nt VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.2995,T/0.7005;Gene=MECR/NM_001024732.2/0;CC=c.-180+19G>A;VC=Intron;Gene=MECR/NM_016011.3/1;CC=c.176+19G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:77:69:0:0:77:2298:266.28:199.25:67.03:1.00:1.00:1.00:60:41.3:0:0:44:107:27:NM_016011.2(MECR) c.176+19G>A,NM_016011.2(MECR) c.176+19G>A:0.72,0.72:0.827673,0.827673 1 29557425 . T . . NT END=29563156;NT GT ./. 1 29563015 rs3103883 G C 130 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:37:0:0:37:1127:130.30:130.30:0.00:1.00:1.00:0.00:60:43.4:0:0:51:100:34:NM_005704.4(PTPRU) c.-129-u13G>C,NM_005704.4(PTPRU) c.-129-u13G>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 29563230 . G . . NT END=29581786;NT GT ./. 1 29563411 rs12041477 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7949,A/0.2051;PC=0.163;Gene=PTPRU/NM_001195001.1/0;CC=c.73+182G>A;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.73+182G>A;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.73+182G>A;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.73+182G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:8:0:0:0:4,4:126,136:12.10,0.00:0.00,0.00:12.10,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:31.5,0.0:0,0:0,0:93,104:57,46:27,7:NM_005704.4(PTPRU) c.73+182G>A,-:0.2,-:NOT_FOUND,- 1 29581560 rs75297032 G A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9758,A/0.02416;Gene=PTPRU/NM_001195001.1/0;CC=c.74-227G>A;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.74-227G>A;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.74-227G>A;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.74-227G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:7:7:0:0:4,3:94,98:9.20,0.00:9.20,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:65.2,0.0:0,0:0,0:89,16:60,135:14,8:NM_005704.4(PTPRU) c.74-227G>A,-:0.02,-:NOT_FOUND,- 1 29581919 . G . . NT END=29585016;NT GT ./. 1 29585289 . G . . NT END=29585772;NT GT ./. 1 29585855 . G . . NT END=29585960;NT GT ./. 1 29586077 . G . . NT END=29586381;NT GT ./. 1 29586557 . G . . NT END=29587121;NT GT ./. 1 29587416 . G . . NT END=29601959;NT GT ./. 1 29602269 . G . . NT END=29605523;NT GT ./. 1 29605634 . G . . NT END=29605967;NT GT ./. 1 29606170 . G . . NT END=29606550;NT GT ./. 1 29606654 . G . . NT END=29609187;NT GT ./. 1 29609462 . G . . NT END=29610451;NT GT ./. 1 29609502 rs111595207 TG T 107 rn VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=TG/0.5395,T/0.4605;NP=1132;PC=0.065;Gene=PTPRU/NM_001195001.1/0;CC=c.2142+47delG;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2142+47delG;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2142+47delG;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2142+47delG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:74:30:0:36:38,36:1156,1119:0.00,106.85:0.00,31.54:0.00,75.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,31.4:0,0:0,0:93,91:44,53:38,29:-,NM_005704.4(PTPRU) c.2142+42delG:-,NOT_FOUND:-,0.288064 1 29609536 rs72884571 G A 85 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.6717,A/0.3283;PC=0.001;Gene=PTPRU/NM_001195001.1/0;CC=c.2142+75G>A;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2142+75G>A;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2142+75G>A;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2142+75G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:52:15:0:0:28,23,1:870,724,21:85.07,0.00,0.72:15.83,0.00,-0.03:69.24,0.00,0.75:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.9,4.1,139.0:0,0,0:0,0,0:97,98,45:53,53,92:27,13,0:NM_005704.4(PTPRU) c.2142+75G>A,-:0.32,-:NOT_FOUND,- 1 29610489 . G . . NT END=29611242;NT GT ./. 1 29611123 rs2281378 C T 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5825,T/0.4175;Gene=PTPRU/NM_001195001.1/0;CC=c.2180-120C>T;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2180-120C>T;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2180-120C>T;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2180-120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:27:0:0:16,11:535,347:0.00,32.02:0.00,30.50:0.00,1.52:0.00,1.00:0.00,1.00:0.00,0.81:60,60:2.7,46.1:0,0:0,0:25,77:126,74:23,24:-,NM_005704.4(PTPRU) c.2180-120C>T:-,0.39:-,NOT_FOUND 1 29611382 . G . . NT END=29616194;NT GT ./. 1 29616225 . G . . NT END=29618380;NT GT ./. 1 29618539 . G . . NT END=29630366;NT GT ./. 1 29630182 rs11590573 T C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6226,C/0.3774;Gene=PTPRU/NM_001195001.1/0;CC=c.2477-185T>C;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2507-185T>C;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2477-185T>C;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2477-185T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,T:10:10:0:0:6,4:205,106:20.48,0.00:20.68,0.00:-0.20,0.00:0.99,0.00:0.99,0.00:0.73,0.00:60,60:42.3,31.2:0,0:0,0:71,61:79,89:53,30:NM_005704.4(PTPRU) c.2507-185T>C,-:0.35,-:NOT_FOUND,- 1 29630455 rs2295061 C T 125 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.6248,T/0.3752;PC=0.623;Gene=PTPRU/NM_001195001.1/0;CC=c.2565C>T;ProtCh=p.Y855=;VC=Silent;Gene=PTPRU/NM_005704.4/1;CC=c.2595C>T;ProtCh=p.Y865=;VC=Silent;Gene=PTPRU/NM_133177.3/0;CC=c.2565C>T;ProtCh=p.Y855=;VC=Silent;Gene=PTPRU/NM_133178.3/0;CC=c.2565C>T;ProtCh=p.Y855=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:64:0:0:49,40:1591,1321:0.00,124.59:0.00,57.59:0.00,67.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,41.4:0,0:0,0:92,65:59,81:37,29:-,NM_005704.4(PTPRU) c.2595C>T (p.(=)):-,0.35:-,0.201907 1 29630558 . G . . NT END=29631285;NT GT ./. 1 29631362 . G . . NT END=29631863;NT GT ./. 1 29631941 . G . . NT END=29633640;NT GT ./. 1 29633486 rs41266213 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9467,A/0.05331;PC=0.003;Gene=PTPRU/NM_001195001.1/0;CC=c.2820+1546G>A;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2850+1546G>A;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2821-155G>A;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2820+1546G>A;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:13:13:0:0:6,7:156,228:14.50,0.00:14.50,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:29.0,5.0:0,0:0,0:57,56:93,95:7,17:NM_005704.4(PTPRU) c.2850+1546G>A,-:0.06,-:NOT_FOUND,- 1 29633491 rs576046833 T TCAGCC 22 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5905,TCAGCC/0.4095;DB;DBA=NA;PAF=T/0.5905,TCAGCC/0.4095;DB;DBA=NA;PAF=NA;NP=518;PC=0.007;Gene=PTPRU/NM_001195001.1/0;CC=c.2820+1558_2820+1562dupAGCCC;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2850+1558_2850+1562dupAGCCC;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2821-143_2821-139dupAGCCC;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2820+1558_2820+1562dupAGCCC;VC=Intron;DM=PTPRU/Y_phosphatase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TCAGCC:13:13:7:0:6,7:210,225:0.00,21.94:0.00,21.94:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:29.0,5.0:0,0:0,0:62,61:88,90:7,17:-,NM_005704.4(PTPRU) c.2850+1551_2850+1552insCAGCC:-,0.39:-,NOT_FOUND 1 29633659 . G . . NT END=29637255;NT GT ./. 1 29637136 rs2235939 T C 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4323,C/0.5677;Gene=PTPRU/NM_001195001.1/0;CC=c.2821-120T>C;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2851-120T>C;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2839-120T>C;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2821-120T>C;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:518:58.95:56.92:2.04:1.00:1.00:1.00:60:42.6:0:0:51:100:34:NM_005704.4(PTPRU) c.2851-120T>C,NM_005704.4(PTPRU) c.2851-120T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 29637293 . G . . NT END=29637967;NT GT ./. 1 29637318 rs6671919 G A 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.9736,A/0.02636;PC=0.065;Gene=PTPRU/NM_001195001.1/0;CC=c.2857+26G>A;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.2887+26G>A;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.2875+26G>A;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.2857+26G>A;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:15:0:0:16,18:499,605:47.29,0.00:14.13,0.00:33.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.8,4.4:0,0:0,0:100,92:49,52:28,36:NM_005704.4(PTPRU) c.2887+26G>A,-:0.04,-:0.064662,- 1 29638066 . G . . NT END=29638154;NT GT ./. 1 29638272 . G . . NT END=29639063;NT GT ./. 1 29638988 rs12746604 G T 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9261,T/0.07388;Gene=PTPRU/NM_001195001.1/0;CC=c.3064-76G>T;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3103-76G>T;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3091-76G>T;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3073-76G>T;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:36:35:0:0:14,22:428,661:0.00,66.09:0.00,54.18:0.00,11.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.2,41.6:0,0:0,0:59,41:90,109:32,28:-,NM_005704.4(PTPRU) c.3103-76G>T:-,0.08:-,NOT_FOUND 1 29639219 . G . . NT END=29641883;NT GT ./. 1 29641846 rs35816572 C T 83 nt VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.9269,T/0.07308;Gene=PTPRU/NM_001195001.1/0;CC=c.3219-38C>T;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3258-38C>T;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3246-38C>T;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3228-38C>T;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:57:49:0:0:30,1,26:953,5,873:0.00,-0.20,82.91:0.00,-0.11,74.29:0.00,-0.09,8.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.5,197.0,67.9:0,0,0:0,0,0:59,48,44:90,103,107:37,0,24:-,NM_005704.4(PTPRU) c.3258-38C>T:-,0.08:-,0.092419 1 29641865 rs35918836 G A 92 nt VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.9269,A/0.07308;PC=0.018;Gene=PTPRU/NM_001195001.1/0;CC=c.3219-19G>A;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3258-19G>A;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3246-19G>A;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3228-19G>A;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:50:0:0:30,33:967,1041:92.04,0.00:70.30,0.00:21.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.1,7.7:0,0:0,0:51,72:99,76:27,39:NM_005704.4(PTPRU) c.3258-19G>A,-:0.08,-:0.092726,- 1 29642020 . G . . NT END=29642513;NT GT ./. 1 29642318 rs2179795 G T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6855,T/0.3145;PC=0.003;Gene=PTPRU/NM_001195001.1/0;CC=c.3355-196G>T;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3394-196G>T;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3382-196G>T;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3364-196G>T;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:G,T:8:5:0:0:3,5:97,143:0.00,14.36:0.00,9.57:0.00,4.80:0.00,0.97:0.00,0.99:0.00,0.95:60,60:3.7,60.0:0,0:0,0:18,77:133,73:4,31:-,NM_005704.4(PTPRU) c.3394-196G>T:-,0.33:-,NOT_FOUND 1 29642664 . G . . NT END=29644259;NT GT ./. 1 29642681 rs35403596 G A 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.9257,A/0.07428;PC=0.002;Gene=PTPRU/NM_001195001.1/0;CC=c.3504+18G>A;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3543+18G>A;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3531+18G>A;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3513+18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:19:0:0:17,24:526,773:48.59,0.00:20.34,0.00:28.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,18.7:0,0:0,0:94,100:56,48:35,29:NM_005704.4(PTPRU) c.3543+18G>A,-:0.08,-:0.095802,- 1 29644115 rs12760526 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9267,T/0.07328;PC=0.013;Gene=PTPRU/NM_001195001.1/0;CC=c.3505-145C>T;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3544-145C>T;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3532-145C>T;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3514-145C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:10:10:0:0:7,3:206,102:0.00,8.98:0.00,8.98:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:10.4,63.3:0,0:0,0:42,80:109,71:32,3:-,NM_005704.4(PTPRU) c.3544-145C>T:-,0.08:-,NOT_FOUND 1 29644184 rs12745381 G C 39 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.9265,C/0.07348;Gene=PTPRU/NM_001195001.1/0;CC=c.3505-76G>C;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3544-76G>C;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3532-76G>C;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3514-76G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:32:0:0:13,19:421,658:38.91,0.00:29.47,0.00:9.44,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:41.8,3.9:0,0:0,0:39,37:111,113:20,28:NM_005704.4(PTPRU) c.3544-76G>C,-:0.08,-:NOT_FOUND,- 1 29644328 rs1045453 C T 125 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.9265,T/0.07348;Gene=PTPRU/NM_001195001.1/0;CC=c.3573C>T;ProtCh=p.R1191=;VC=Silent;Gene=PTPRU/NM_005704.4/1;CC=c.3612C>T;ProtCh=p.R1204=;VC=Silent;Gene=PTPRU/NM_133177.3/0;CC=c.3600C>T;ProtCh=p.R1200=;VC=Silent;Gene=PTPRU/NM_133178.3/0;CC=c.3582C>T;ProtCh=p.R1194=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:70:0:0:44,44:1413,1309:0.00,125.30:0.00,80.42:0.00,44.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,38.4:0,0:0,0:78,57:70,93:27,38:-,NM_005704.4(PTPRU) c.3612C>T (p.(=)):-,0.08:-,0.093111 1 29644434 . G . . NT END=29647196;NT GT ./. 1 29647338 . G . . NT END=29649882;NT GT ./. 1 29649874 rs10915252 T C 109 nt VT=SNV;PN=T;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.5487,C/0.4513;Gene=PTPRU/NM_001195001.1/0;CC=c.3820-9T>C;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.3859-9T>C;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.3847-9T>C;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.3829-9T>C;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:49:0:0:34,33:1134,1036:109.44,0.00:57.95,0.00:51.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,13.7:0,0:0,0:58,62:80,88:24,28:NM_005704.4(PTPRU) c.3859-9T>C,-:0.44,-:0.364329,- 1 29650009 . G . . NT END=29650142;NT GT ./. 1 29650301 . G . . NT END=29651702;NT GT ./. 1 29651839 . G . . NT END=29652110;NT GT ./. 1 29652068 rs2076618 T C 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.5315,C/0.4685,G/.;Gene=PTPRU/NM_001195001.1/0;CC=c.4240-43T>C;VC=Intron;Gene=PTPRU/NM_005704.4/1;CC=c.4279-43T>C;VC=Intron;Gene=PTPRU/NM_133177.3/0;CC=c.4261-43T>C;VC=Intron;Gene=PTPRU/NM_133178.3/0;CC=c.4249-43T>C;VC=Intron;DM=PTPRU/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:20:0:0:13,15:417,453:39.52,0.00:15.88,0.00:23.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,5.9:0,0:0,0:65,41:85,110:35,20:NM_005704.4(PTPRU) c.4279-43T>C,-:0.45,-:0.38636,- 1 29652174 . C . . NT END=31186428;NT GT ./. 1 30068167 rs9727611 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:129:14.81:10.73:4.08:1.00:1.00:1.00:60:38.5:0:0:73:78:17:chr1 g.30068166A>G (intergenic),chr1 g.30068166A>G (intergenic):0.14,0.14:NOT_FOUND,NOT_FOUND 1 30196312 . T C 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:67,68:6.45,0.00:6.75,0.00:-0.30,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:186.0,33.0:0,0:0,0:35,78:110,19:19,54:chr1 g.30196311T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 30196372 . A C 6 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;NP=5;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,C:4:4:0:0:2,2:45,67:0.00,6.46:0.00,6.61:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,16:186.0,238.0:0,0:0,0:97,11:49,101:18,4:-,chr1 g.30196371A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 30196396 . T C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;NP=3;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:7:7:0:0:3,4:102,89:9.57,0.00:6.18,0.00:3.39,0.00:0.69,0.00:0.69,0.00:0.83,0.00:47,60:202.7,223.8:1,0:0,0:25,40:68,74:4,18:chr1 g.30196395T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 30196453 . C T 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,T:7:6:0:0:4,3:115,88:0.00,8.16:0.00,5.24:0.00,2.92:0.00,0.69:0.00,0.95:0.00,0.93:46,60:255.2,160.3:0,0:0,0:83,85:28,11:12,12:-,chr1 g.30196452C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 30196468 . T C 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:4:4:0:0:2,2:70,44:6.76,0.00:3.24,0.00:3.53,0.00:0.51,0.00:0.51,0.00:0.89,0.00:60,8:231.0,256.0:0,0:0,0:81,91:12,38:12,12:chr1 g.30196467T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 30232713 rs374992276 G GCGCACA 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=3;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GCGCACA:4:3:4:0:4:123:14.21:7.60:6.60:1.00:1.00:1.00:70:22.0:0:0:45:74:20:chr1 g.30232713_30232714insCGCACA (intergenic),chr1 g.30232713_30232714insCGCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 30353315 rs56913431 TACAC T,TACACAC 11 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=116;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:28:TACACAC,T:4:4:3:1:3,1:100,34:11.06,3.28:7.35,1.64:3.70,1.64:0.85,0.00:0.85,0.00:0.99,0.00:60,60:20.0,33.0:0,0:0,0:52,84:98,57:27,0:chr1 g.30353316_30353319delACAC (intergenic),chr1 g.30353318_30353319dupAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 30481550 rs72658997 T TGTGTGTGA 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=49;PC=0.925;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:T,TGTGTGTGA:4:3:3:0:1,3:30,101:0.00,10.55:0.00,3.15:0.00,7.40:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,0.0:0,0:0,0:143,106:2,45:0,1:-,chr1 g.30481550_30481551insGTGTGTGA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 30789970 rs58177201 T TCACACA 13 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=16;NP=3;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:T,TCACACA:5:6:6:0:1,4:13,197:0.00,13.48:0.00,8.38:0.00,5.09:0.00,0.90:0.00,0.99:0.00,0.97:60,60:13.0,4.8:0,2:0,0:110,48:32,102:0,6:-,chr1 g.30789970_30789971insCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 30808093 rs80200835 A AAC 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=56;NP=75;PC=0.043;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AAC:5:4:4:0:2,3:67,130:0.00,9.63:0.00,4.96:0.00,4.66:0.00,0.73:0.00,0.51:0.00,0.73:60,60:5.5,24.3:0,1:0,0:111,84:8,56:30,8:-,chr1 g.30808093_30808094insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31036856 rs58304509 AGTGT A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;PC=0.024;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:AGTGT,A:3:4:0:4:1,2:34,101:0.00,6.85:0.00,3.33:0.00,3.53:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,0.0:0,1:0,0:102,65:43,85:0,21:-,chr1 g.31036857_31036860delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31036919 rs71028708 CTTGCTCTG C 13 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CTTGCTCTG/0.03115,C/0.9688;DB;DBA=NA;PAF=CTTGCTCTG/0.03115,C/0.9688;NP=703;PC=0.153;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CTTGCTCTG,C:5:4:0:4:1,4:34,119:0.00,12.72:0.00,6.66:0.00,6.06:0.00,0.96:0.00,1.00:0.00,1.00:60,60:0.0,31.2:0,0:0,0:132,94:13,55:0,11:-,chr1 g.31036920_31036927delTTGCTCTG (intergenic):-,0.97:-,NOT_FOUND 1 31124652 rs201265916 A C 7 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=46;PC=0.890 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:4:3:0:0:2,2:67,68:0.00,6.55:0.00,1.39:0.00,5.16:0.00,0.51:0.00,0.89:0.00,0.89:53,43:107.0,150.5:0,0:0,0:16,6:110,103:6,3:-,chr1 g.31124651A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31124747 . A C 10 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;NP=3;PC=0.415 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,C:5:3:0:0:2,3:33,102:0.00,10.19:0.00,1.35:0.00,8.84:0.00,0.78:0.00,0.94:0.00,0.97:60,45:56.5,123.7:0,0:0,0:55,98:90,3:44,37:-,chr1 g.31124746A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31127985 rs80025708 C T 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=15;PC=0.114 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:4:2:0:0:2,2:66,66:0.00,6.35:0.00,3.17:0.00,3.17:0.00,0.51:0.00,0.79:0.00,0.79:60,60:6.0,170.0:0,0:0,0:78,47:72,91:13,8:-,chr1 g.31127984C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31128111 rs78438526 A G 7 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G:4:4:0:0:2,2:58,68:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:40,13:79.5,174.0:0,0:0,0:24,87:88,46:7,19:-,chr1 g.31128110A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31128135 . A G 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;NP=59;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G:6:5:0:0:3,3:76,85:0.00,8.14:0.00,4.56:0.00,3.58:0.00,0.73:0.00,0.96:0.00,0.67:17,40:85.0,117.3:0,0:0,0:41,57:66,53:34,2:-,chr1 g.31128134A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31186479 . G . . NT END=31187093;NT GT ./. 1 31187175 . C . . NT END=31188003;NT GT ./. 1 31188157 . C . . NT END=31188755;NT GT ./. 1 31189173 . C . . NT END=31189636;NT GT ./. 1 31189763 . C . . NT END=31191581;NT GT ./. 1 31191805 . C . . NT END=31194251;NT GT ./. 1 31194599 . C . . NT END=31196304;NT GT ./. 1 31196255 rs45601237 G A 154 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7786,A/0.2214;Gene=MATN1/NM_002379.3/1;CC=c.94+50C>T;VC=Intron;Gene=MATN1-AS1/NR_034182.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:A,C,G:44:40:0:0:42,1,1:1365,12,29:154.32,0.29,0.00:120.06,0.29,0.00:34.26,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.5,63.0,0.0:0,0,0:0,0,0:33,127,6:117,24,144:19,0,0:NM_002379.3(MATN1) c.94+50C>T,NM_002379.3(MATN1) c.94+50C>T:0.21,0.21:0.223766,0.223766 1 31196399 . A . . NT END=31206383;NT GT ./. 1 31206765 . C . . NT END=31208019;NT GT ./. 1 31208113 . C . . NT END=31210450;NT GT ./. 1 31210547 . C . . NT END=31211786;NT GT ./. 1 31211910 . C . . NT END=31212655;NT GT ./. 1 31212785 . C . . NT END=31214486;NT GT ./. 1 31214564 . C . . NT END=31215302;NT GT ./. 1 31215397 . C . . NT END=31230505;NT GT ./. 1 31230593 . G . . NT END=31346057;NT GT ./. 1 31230668 rs2273979 C T 88 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.7408,T/0.2592;PC=0.983;Gene=LAPTM5/NM_006762.2/1;CC=c.-76G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:17:0:0:18,30:551,871:0.00,87.61:0.00,20.17:0.00,67.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,37.7:0,0:0,0:123,115:28,34:19,27:-,NM_006762.2(LAPTM5) c.-76G>A:-,0.26:-,NOT_FOUND 1 31243550 rs549348682 T TAC 14 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;NP=175;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TAC:4:3:4:0:4:118:13.70:9.39:4.31:1.00:1.00:1.00:60:27.0:0:0:90:60:20:chr1 g.31243550_31243551insAC (intergenic),chr1 g.31243550_31243551insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 31274274 . AACAC A 14 rn VT=DEL;SST=Single;DP=6;NP=11;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AACAC,A:5:5:0:5:1,4:33,163:0.00,13.63:0.00,8.48:0.00,5.15:0.00,0.93:0.00,0.99:0.00,0.91:60,70:0.0,46.0:0,1:0,0:90,44:38,107:0,18:-,chr1 g.31274275_31274278delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 31274317 rs12123881 T G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:147:17.07:7.67:9.39:1.00:1.00:1.00:70:45.2:0:0:48:103:44:chr1 g.31274316T>G (intergenic),chr1 g.31274316T>G (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 1 31346225 . C . . NT END=31347143;NT GT ./. 1 31347436 . C . . NT END=31349398;NT GT ./. 1 31349647 rs2491132 C T 172 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=115;DB;DBA=in-clinvar;PAF=C/0.9237,G/.,T/0.07628;Gene=SDC3/NM_014654.3/1;CC=c.622G>A;ProtCh=p.V208I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:115:69:0:0:1,55,59:10,1658,1785:-0.12,0.00,172.38:-0.01,0.00,63.57:-0.11,0.00,108.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:135.0,13.1,43.4:0,0,0:0,0,0:48,76,80:103,72,70:0,40,49:-,NM_014654.3(SDC3) c.622G>A (p.Val208Ile):-,0.1:-,0.153568 1 31350013 . C . . NT END=31351469;NT GT ./. 1 31351513 rs1891419 G A 113 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.8221,A/0.1779;Gene=SDC3/NM_014654.3/1;CC=c.213C>T;ProtCh=p.P71=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:63:0:0:36,39:1179,1219:112.50,0.00:68.32,0.00:44.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,10.7:0,0:0,0:47,53:90,95:30,17:NM_014654.3(SDC3) c.213C>T (p.(=)),-:0.18,-:0.212364,- 1 31351588 . C . . NT END=31381295;NT GT ./. 1 31378807 rs150928809 G GAC 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=21;NP=40;Gene=SDC3/NM_014654.3/1;CC=c.138+2488_138+2489insGT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,G,GAC:4:4:3:0:1,1,2:35,36,97:3.18,0.00,6.54:-0.05,0.00,6.60:3.23,0.00,-0.06:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.87:60,60,60:56.0,0.0,38.5:1,0,1:0,0,0:102,129,46:49,21,105:0,0,13:-,NM_014654.3(SDC3) c.138+2488_138+2489insGT:-,NOT_FOUND:-,NOT_FOUND 1 31381106 rs12118566 G C 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8596,C/0.1404;PC=0.019;Gene=SDC3/NM_014654.3/1;CC=c.138+190C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:16:16:0:0:10,6:310,196:31.16,0.00:31.16,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:84.8,51.7:0,1:0,0:47,32:104,118:8,19:NM_014654.3(SDC3) c.138+190C>G,-:0.16,-:NOT_FOUND,- 1 31381123 rs12144903 A G 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1797,G/0.8203;Gene=SDC3/NM_014654.3/1;CC=c.138+173T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:20:0:0:20:559:65.42:65.42:0.00:1.00:1.00:0.00:60:64.5:0:0:56:95:24:NM_014654.3(SDC3) c.138+173T>C,NM_014654.3(SDC3) c.138+173T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 31381434 . g . . NT END=31406057;NT GT ./. 1 31406190 . C . . NT END=31409489;NT GT ./. 1 31406286 rs58664754 TAC T 12 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=2;PC=0.018;Gene=PUM1/NM_001020658.1/1;CC=c.3436-99_3436-98delGT;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.3430-99_3430-98delGT;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,TAC,T:26:11:0:8:3,18,5:53,479,215:3.06,0.00,12.42:-0.27,0.00,2.66:3.33,0.00,9.76:0.00,0.00,0.81:0.00,0.00,0.83:0.00,0.00,0.97:60,60,60:61.3,13.9,21.4:0,0,2:0,0,0:29,114,74:104,36,77:1,29,20:-,NM_001020658.1(PUM1) c.3436-99_3436-98delGT:-,NOT_FOUND:-,NOT_FOUND 1 31409683 . C . . NT END=31413997;NT GT ./. 1 31409726 rs56387244 CCT C 33 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=CCT/0.8452,C/0.1548;NP=1621;Gene=PUM1/NM_001020658.1/1;CC=c.3243-46_3243-45delAG;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.3237-46_3237-45delAG;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCT,C:29:9:0:12:17,12:474,357:0.00,32.90:0.00,7.59:0.00,25.31:0.00,1.00:0.00,0.98:0.00,1.00:60,60:27.6,7.8:0,0:0,0:90,95:52,55:31,22:-,NM_001020658.1(PUM1) c.3243-46_3243-45delAG:-,0.16:-,0.246326 1 31413972 rs3795433 T C 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.8772,C/0.1228;Gene=PUM1/NM_001020658.1/1;CC=c.3242+26A>G;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.3236+26A>G;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:40:0:0:24,21:829,660:80.87,0.00:55.54,0.00:25.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,4.5:0,0:0,0:57,50:86,100:26,31:NM_001020658.1(PUM1) c.3242+26A>G,-:0.12,-:0.047901,- 1 31414120 . C . . NT END=31414844;NT GT ./. 1 31414971 . C . . NT END=31418192;NT GT ./. 1 31415038 . TTATATATATATATATA T 48 idl,nt VT=DEL;SST=Single;DP=46;NP=1;PC=0.195;Gene=PUM1/NM_001020658.1/1;CC=c.2995-84_2995-69delTATATATATATATATA;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.2989-84_2989-69delTATATATATATATATA;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTATATATATATATATA,T:44:24:0:20:26,18:777,577:0.00,47.66:0.00,15.37:0.00,32.30:0.00,1.00:0.00,1.00:0.00,1.00:60,70:38.8,40.5:0,2:0,0:135,78:12,71:13,14:-,NM_001020658.1(PUM1) c.2995-84_2995-69delTATATATATATATATA:-,NOT_FOUND:-,NOT_FOUND 1 31415040 rs4949187 A T 80 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6548,T/0.3452;PC=0.060;Gene=PUM1/NM_001020658.1/1;CC=c.2995-70T>A;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.2989-70T>A;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:12:0:22:23:688:79.69:34.98:44.70:1.00:1.00:1.00:60:41.1:0:0:137:10:12:NM_001020658.1(PUM1) c.2995-70T>A,NM_001020658.1(PUM1) c.2995-70T>A:0.35,0.35:NOT_FOUND,NOT_FOUND 1 31415056 . A T 49 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;PC=0.029;Gene=PUM1/NM_001020658.1/1;CC=c.2995-86T>A;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.2989-86T>A;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:10:0:1:10,16:318,486:0.00,48.65:0.00,15.25:0.00,33.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:22.1,41.4:2,16:0,0:115,82:14,68:14,11:-,NM_001020658.1(PUM1) c.2995-86T>A:-,NOT_FOUND:-,NOT_FOUND 1 31418119 rs12142833 C T 93 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.8059,T/0.1941;PC=0.003;Gene=PUM1/NM_001020658.1/1;CC=c.2994+74G>A;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.2988+74G>A;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:48:0:0:22,29:674,943:0.00,92.95:0.00,83.36:0.00,9.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,39.8:0,0:0,0:37,35:106,116:27,17:-,NM_001020658.1(PUM1) c.2994+74G>A:-,0.2:-,NOT_FOUND 1 31418331 . C . . NT END=31422973;NT GT ./. 1 31422713 rs4949328 A G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8053,G/0.1947;Gene=PUM1/NM_001020658.1/1;CC=c.2856+261T>C;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.2850+267T>C;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:9:9:0:0:4,5:136,122:0.00,11.83:0.00,11.83:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:3.0,28.8:0,0:0,0:45,22:104,129:30,21:-,NM_001020658.1(PUM1) c.2856+261T>C:-,0.2:-,NOT_FOUND 1 31423109 . C . . NT END=31425080;NT GT ./. 1 31425211 . C . . NT END=31426560;NT GT ./. 1 31426815 rs2275741 A G 356 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.6426,G/0.3574;PC=0.053;Gene=PUM1/NM_001020658.1/1;CC=c.2337T>C;ProtCh=p.N779=;VC=Silent;Gene=PUM1/NM_014676.2/0;CC=c.2337T>C;ProtCh=p.N779=;VC=Silent;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:47:0:0:98:3099:356.38:115.25:241.12:1.00:1.00:1.00:60:44.2:0:0:73:71:34:NM_001020658.1(PUM1) c.2337T>C (p.(=)),NM_001020658.1(PUM1) c.2337T>C (p.(=)):0.36,0.36:0.368522,0.368522 1 31426829 . C . . NT END=31437520;NT GT ./. 1 31437758 . C . . NT END=31438828;NT GT ./. 1 31438545 rs7515568 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6442,T/0.3558;Gene=PUM1/NM_001020658.1/1;CC=c.2086+284G>A;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.2086+284G>A;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:53.6:0:0:31:120:5:NM_001020658.1(PUM1) c.2086+284G>A,NM_001020658.1(PUM1) c.2086+284G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 1 31439126 . C . . NT END=31440013;NT GT ./. 1 31439280 rs61778255 G C 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8874,C/0.1126;PC=0.001;Gene=PUM1/NM_001020658.1/1;CC=c.1790-155C>G;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.1790-155C>G;VC=Intron;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:0:0:0:10,10:316,313:30.36,0.00:0.00,0.00:30.36,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.4,30.4:0,0:0,0:125,76:25,74:15,47:NM_001020658.1(PUM1) c.1790-155C>G,-:0.12,-:NOT_FOUND,- 1 31439292 rs56272895 T C 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8866,C/0.1134;PC=0.040;Gene=PUM1/NM_001020658.1/1;CC=c.1790-167A>G;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.1790-167A>G;VC=Intron;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:248,257:23.66,0.00:0.00,0.00:23.66,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:65.8,30.8:0,0:0,0:133,72:18,79:14,38:NM_001020658.1(PUM1) c.1790-167A>G,-:0.12,-:NOT_FOUND,- 1 31440158 . C . . NT END=31441200;NT GT ./. 1 31440361 rs4949329 T C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.232,C/0.768;Gene=PUM1/NM_001020658.1/1;CC=c.1646-204A>G;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.1646-204A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:209:23.76:0.00:23.76:1.00:0.00:1.00:60:38.5:0:0:115:35:21:NM_001020658.1(PUM1) c.1646-204A>G,NM_001020658.1(PUM1) c.1646-204A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 31440921 rs4317854 G A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1687,A/0.8313;Gene=PUM1/NM_001020658.1/1;CC=c.1645+280C>T;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.1645+280C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:164:18.78:18.78:0.00:1.00:1.00:0.00:60:40.0:0:0:53:98:35:NM_001020658.1(PUM1) c.1645+280C>T,NM_001020658.1(PUM1) c.1645+280C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 31441340 . C . . NT END=31447497;NT GT ./. 1 31447650 . C . . NT END=31452908;NT GT ./. 1 31453026 . C . . NT END=31454158;NT GT ./. 1 31454253 . C . . NT END=31465236;NT GT ./. 1 31465508 . C . . NT END=31467900;NT GT ./. 1 31468068 . C . . NT END=31478699;NT GT ./. 1 31478506 rs72659204 A G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8866,G/0.1134;PC=0.140;Gene=PUM1/NM_001020658.1/1;CC=c.720+194T>C;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.720+194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G:8:8:0:0:4,4:108,139:0.00,13.41:0.00,13.41:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:5.2,43.5:0,0:0,0:81,49:68,101:31,17:-,NM_001020658.1(PUM1) c.720+194T>C:-,0.12:-,NOT_FOUND 1 31478638 rs57530886 AAGAGAG A 78 idl,nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=617;PC=0.090;Gene=PUM1/NM_001020658.1/1;CC=c.720+56_720+61delCTCTCT;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.720+56_720+61delCTCTCT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:AAGAGAG,A:33:36:0:31:8,25:228,944:0.00,78.19:0.00,60.48:0.00,17.71:0.00,1.00:0.00,1.00:0.00,1.00:60,70:17.6,10.6:0,6:0,0:122,49:22,102:5,20:-,NM_001020658.1(PUM1) c.720+56_720+61delCTCTCT:-,NOT_FOUND:-,NOT_FOUND 1 31478879 . C . . NT END=31479840;NT GT ./. 1 31479005 rs1337046 C T 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8071,T/0.1929;PC=0.001;Gene=PUM1/NM_001020658.1/1;CC=c.542-127G>A;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.542-127G>A;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:7,9:214,232:0.00,22.67:0.00,0.00:0.00,22.67:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,50.1:0,0:0,0:119,82:32,56:10,13:-,NM_001020658.1(PUM1) c.542-127G>A:-,0.2:-,NOT_FOUND 1 31479950 . C . . NT END=31501642;NT GT ./. 1 31501712 . C . . NT END=31532050;NT GT ./. 1 31501755 rs4949331 T C 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7766,C/0.2234;PC=0.009;Gene=PUM1/NM_001020658.1/1;CC=c.364-44A>G;VC=Intron;Gene=PUM1/NM_014676.2/0;CC=c.364-44A>G;VC=Intron;DM=PUM1/PUF;DM=PUM1/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:9:0:0:14,8:466,255:47.02,0.00:13.24,0.00:33.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,1.2:0,0:0,0:103,85:47,65:29,21:NM_001020658.1(PUM1) c.364-44A>G,-:0.22,-:0.308934,- 1 31532425 . C . . NT END=31538462;NT GT ./. 1 31538633 . G . . NT END=31654549;NT GT ./. 1 31592973 rs72659238 G C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=243 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:4:2:0:0:2,2:71,71:6.85,0.00:-0.30,0.00:7.15,0.00:0.51,0.00:0.79,0.00:0.51,0.00:60,60:52.0,0.0:0,0:0,0:76,43:74,82:56,27:chr1 g.31592972G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 31654305 rs4949357 C G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5817,G/0.4183;PC=0.336;Gene=NKAIN1/NM_024522.2/1;CC=c.*245G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:6:6:0:0:2,4:68,105:0.00,10.72:0.00,10.72:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:33.0,56.8:0,0:0,0:67,51:84,98:36,41:-,NM_024522.2(NKAIN1) c.*245G>C:-,0.47:-,NOT_FOUND 1 31654560 . C . . NT END=31654706;NT GT ./. 1 31654789 . C . . NT END=31655376;NT GT ./. 1 31654940 rs2297959 C T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5817,T/0.4183;Gene=NKAIN1/NM_024522.2/1;CC=c.533-152G>A;VC=Intron;DM=NKAIN1/NKAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,C,T:17:1:0:0:1,11,5:10,320,148:0.11,0.00,12.87:-0.01,0.00,-0.08:0.13,0.00,12.95:0.00,0.00,0.88:0.00,0.00,0.53:0.00,0.00,0.88:60,60,60:48.0,28.8,33.8:0,0,0:0,0,0:136,127,78:15,23,73:0,22,46:-,NM_024522.2(NKAIN1) c.533-152G>A:-,0.48:-,NOT_FOUND 1 31655438 . C . . NT END=31656663;NT GT ./. 1 31656862 . C . . NT END=31658093;NT GT ./. 1 31658175 . C . . NT END=31660896;NT GT ./. 1 31661035 . C . . NT END=31712340;NT GT ./. 1 31712314 rs12025507 C T 69 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.7244,T/0.2756;PC=0.003;Gene=NKAIN1/NM_024522.2/1;CC=c.54+27G>A;VC=Intron;DM=NKAIN1/NKAIN;DM=NKAIN1/NKAIN;DM=NKAIN1/NKAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:49:0:0:35,24:1132,753:0.00,69.42:0.00,45.37:0.00,24.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,48.7:0,0:0,0:52,48:99,102:30,20:-,NM_024522.2(NKAIN1) c.54+27G>A:-,0.27:-,NOT_FOUND 1 31712395 . G . . NT END=31732918;NT GT ./. 1 31732969 . C . . NT END=31733801;NT GT ./. 1 31733928 . c . . NT END=31734375;NT GT ./. 1 31734480 . C . . NT END=31740717;NT GT ./. 1 31740668 rs3753374 C T 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.6973,T/0.3027;PC=0.002;Gene=SNRNP40/NM_004814.2/1;CC=c.920+50G>A;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:32:0:0:19,15:596,522:0.00,49.23:0.00,31.73:0.00,17.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.0,41.3:0,0:0,0:43,67:107,82:24,25:-,NM_004814.2(SNRNP40) c.920+50G>A:-,0.36:-,0.468784 1 31740706 rs3753373 A G 67 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.725,G/0.275;PC=0.006;Gene=SNRNP40/NM_004814.2/1;CC=c.920+12T>C;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:33:0:0:19,23:613,689:0.00,67.21:0.00,39.72:0.00,27.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.8,35.2:0,0:0,0:68,51:64,96:33,24:-,NM_004814.2(SNRNP40) c.920+12T>C:-,0.27:-,0.174304 1 31740780 . C . . NT END=31742004;NT GT ./. 1 31741816 rs3737756 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3001,G/0.6999;PC=0.005;Gene=SNRNP40/NM_004814.2/1;CC=c.858+189T>C;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:5:0:0:3,2:77,70:0.00,6.50:0.00,6.50:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:3.7,41.5:0,0:0,0:11,94:140,57:9,7:-,NM_004814.2(SNRNP40) c.858+189T>C:-,0.71:-,NOT_FOUND 1 31742088 . C . . NT END=31744225;NT GT ./. 1 31744168 rs3737755 G A 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6969,A/0.3031;PC=0.001;Gene=SNRNP40/NM_004814.2/1;CC=c.775+58C>T;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:37:0:0:15,23:456,778:41.64,0.00:36.16,0.00:5.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,0.9:0,0:0,0:34,48:114,98:20,38:NM_004814.2(SNRNP40) c.775+58C>T,-:0.36,-:NOT_FOUND,- 1 31744347 . C . . NT END=31754220;NT GT ./. 1 31744505 rs113021667 A AT 11 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3327,AT/.,ATTTTTTTTTTG/0.01577,ATTTTTTTTTTT/0.6516;NP=313;PC=0.004;Gene=SNRNP40/NM_004814.2/1;CC=c.655-160_655-159insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,T,AT:16:0:4:0:11,1,4:353,10,133:0.00,0.11,11.43:0.00,0.00,0.00:0.00,0.11,11.43:0.00,0.00,0.75:0.00,0.00,0.00:0.00,0.00,0.75:60,60,60:15.1,114.0,5.8:0,0,0:0,0,0:140,126,96:11,25,54:6,0,12:-,NM_004814.2(SNRNP40) c.655-160_655-159insA:-,NOT_FOUND:-,NOT_FOUND 1 31744524 rs146424900 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9968,A/0.003195;NP=2;PC=0.001;Gene=SNRNP40/NM_004814.2/1;CC=c.655-178C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:10:0:0:0:4,6:126,197:11.59,0.00:0.00,0.00:11.59,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:31.5,22.8:0,0:0,0:125,116:26,34:13,23:NM_004814.2(SNRNP40) c.655-178C>T,-:0.01,-:NOT_FOUND,- 1 31754344 . C . . NT END=31762100;NT GT ./. 1 31754511 rs4949374 G C 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5529,C/0.4471;Gene=SNRNP40/NM_004814.2/1;CC=c.532-168C>G;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,G:9:0:0:0:7,2:232,69:24.47,0.00:0.00,0.00:24.47,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.3,0.0:0,0:0,0:91,107:59,44:38,40:NM_004814.2(SNRNP40) c.532-168C>G,-:0.48,-:NOT_FOUND,- 1 31761936 rs7521463 T A 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5533,A/0.4467;Gene=SNRNP40/NM_004814.2/1;CC=c.531+165A>T;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:21:21:0:0:10,11:294,376:27.81,0.00:27.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:74.9,25.7:0,0:0,0:24,44:127,107:7,23:NM_004814.2(SNRNP40) c.531+165A>T,-:0.48,-:NOT_FOUND,- 1 31761989 rs1532859 G A 104 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.01418,A/0.9858;PC=0.232;Gene=SNRNP40/NM_004814.2/1;CC=c.531+112C>T;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:A,G:30:30:0:0:29,1:920,10:104.24,0.00:97.22,0.00:7.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.4,57.0:0,0:0,0:68,72:81,79:27,0:NM_004814.2(SNRNP40) c.531+112C>T,NM_004814.2(SNRNP40) c.531+112C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 31762267 . C . . NT END=31764759;NT GT ./. 1 31762374 rs1532858 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.2957,T/0.7043;Gene=SNRNP40/NM_004814.2/1;CC=c.366-108G>A;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:15:2:0:0:10,5:318,166:0.00,14.84:0.00,1.47:0.00,13.37:0.00,0.89:0.00,0.63:0.00,0.99:60,60:15.0,35.2:0,0:0,0:132,114:17,37:11,28:-,NM_004814.2(SNRNP40) c.366-108G>A:-,0.71:-,NOT_FOUND 1 31764693 rs12135540 G A 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6971,A/0.3029;Gene=SNRNP40/NM_004814.2/1;CC=c.365+67C>T;VC=Intron;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:24:0:0:11,14:360,389:33.85,0.00:28.82,0.00:5.03,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:33.1,2.0:0,0:0,0:37,64:114,86:13,34:NM_004814.2(SNRNP40) c.365+67C>T,-:0.36,-:NOT_FOUND,- 1 31764713 rs71028753 C CAAG 29 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5529,CAAG/0.4471,CAGG/.;DB;DBA=NA;PAF=C/0.5529,CAAG/0.4471;NP=2711;Gene=SNRNP40/NM_004814.2/1;CC=c.365+44_365+46dupCTT;VC=Intron;DM=SNRNP40/WD40;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAAG:26:24:10:0:16,10:497,315:0.00,28.75:0.00,19.54:0.00,9.21:0.00,1.00:0.00,1.00:0.00,0.98:60,60:1.8,24.2:0,0:0,0:61,44:89,106:40,13:-,NM_004814.2(SNRNP40) c.365+46_365+47insCTT:-,0.48:-,0.573003 1 31764854 . C . . NT END=31766065;NT GT ./. 1 31764930 rs10733007 T C 96 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.02077,C/0.9792;Gene=SNRNP40/NM_004814.2/1;CC=c.272-77A>G;VC=Intron;DM=SNRNP40/WD40;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:6:0:0:28:828:95.99:12.70:83.29:1.00:1.00:1.00:60:40.5:0:0:107:41:33:NM_004814.2(SNRNP40) c.272-77A>G,NM_004814.2(SNRNP40) c.272-77A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 31765968 rs1546375 C T 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6983,T/0.3017;Gene=SNRNP40/NM_004814.2/1;CC=c.271+98G>A;VC=Intron;DM=SNRNP40/WD40;DM=SNRNP40/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:20:0:0:13,8:456,251:0.00,22.86:0.00,21.43:0.00,1.42:0.00,0.99:0.00,1.00:0.00,0.68:60,60:5.0,54.1:0,0:0,0:44,45:107,97:14,30:-,NM_004814.2(SNRNP40) c.271+98G>A:-,0.36:-,NOT_FOUND 1 31766196 . C . . NT END=31769457;NT GT ./. 1 31769599 . G . . NT END=31782945;NT GT ./. 1 31783012 . G . . NT END=31791013;NT GT ./. 1 31791084 . G . . NT END=31791955;NT GT ./. 1 31792014 . G . . NT END=31810021;NT GT ./. 1 31792141 rs4949384 A G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6987,G/0.3013;PC=0.001;Gene=ZCCHC17/NM_001282566.1/0;CC=c.190+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282567.1/0;CC=c.52+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282568.1/0;CC=c.124+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282569.1/1;CC=c.100+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282570.1/0;CC=c.52+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282571.1/0;CC=c.39+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282572.1/0;CC=c.124+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282573.1/0;CC=c.100+128A>G;VC=Intron;Gene=ZCCHC17/NM_001282574.1/0;CC=c.124+128A>G;VC=Intron;Gene=ZCCHC17/NM_016505.3/0;CC=c.124+128A>G;VC=Intron;DM=ZCCHC17/S1;DM=ZCCHC17/S1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:A,G:16:0:0:0:6,10:185,317:0.00,31.84:0.00,0.00:0.00,31.84:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.3,38.3:0,0:0,0:111,76:39,74:22,34:-,NM_016505.2(ZCCHC17) c.124+128A>G:-,0.36:-,NOT_FOUND 1 31809816 rs6676682 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5901,T/0.4099;PC=0.001;Gene=ZCCHC17/NM_001282566.1/0;CC=c.191-206C>T;VC=Intron;Gene=ZCCHC17/NM_001282567.1/0;CC=c.53-206C>T;VC=Intron;Gene=ZCCHC17/NM_001282568.1/0;CC=c.125-206C>T;VC=Intron;Gene=ZCCHC17/NM_001282569.1/1;CC=c.101-206C>T;VC=Intron;Gene=ZCCHC17/NM_001282570.1/0;CC=c.53-206C>T;VC=Intron;Gene=ZCCHC17/NM_001282571.1/0;CC=c.40-1988C>T;VC=Intron;Gene=ZCCHC17/NM_001282572.1/0;CC=c.125-206C>T;VC=Intron;Gene=ZCCHC17/NM_001282573.1/0;CC=c.101-206C>T;VC=Intron;Gene=ZCCHC17/NM_001282574.1/0;CC=c.125-206C>T;VC=Intron;Gene=ZCCHC17/NM_016505.3/0;CC=c.125-206C>T;VC=Intron;DM=ZCCHC17/S1;DM=ZCCHC17/S1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:9:9:0:0:5,4:157,106:0.00,9.79:0.00,9.79:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:13.8,57.2:0,0:0,0:56,72:94,66:10,28:-,NM_016505.2(ZCCHC17) c.125-206C>T:-,0.44:-,NOT_FOUND 1 31810123 . G . . NT END=31811803;NT GT ./. 1 31811896 . G . . NT END=31819486;NT GT ./. 1 31819666 . G . . NT END=31821675;NT GT ./. 1 31821822 . G . . NT END=31836878;NT GT ./. 1 31837041 . G . . NT END=31838732;NT GT ./. 1 31837320 rs11436 T C 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5901,C/0.4099;PC=0.888;Gene=ZCCHC17/NM_001282566.1/0;CC=c.*280T>C;VC=3UTR;Gene=ZCCHC17/NM_001282567.1/0;CC=c.*280T>C;VC=3UTR;Gene=ZCCHC17/NM_001282568.1/0;CC=c.*280T>C;VC=3UTR;Gene=ZCCHC17/NM_001282569.1/1;CC=c.*280T>C;VC=3UTR;Gene=ZCCHC17/NM_001282570.1/0;CC=c.*280T>C;VC=3UTR;Gene=ZCCHC17/NM_001282571.1/0;CC=c.*280T>C;VC=3UTR;Gene=ZCCHC17/NM_001282572.1/0;CC=c.*252T>C;VC=3UTR;Gene=ZCCHC17/NM_001282573.1/0;CC=c.*252T>C;VC=3UTR;Gene=ZCCHC17/NM_001282574.1/0;CC=c.*419T>C;VC=3UTR;Gene=ZCCHC17/NM_016505.3/0;CC=c.*280T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:13:0:0:0:7,6:207,167:20.12,0.00:0.00,0.00:20.12,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:29.6,14.0:0,0:0,0:116,129:35,21:15,12:NM_016505.2(ZCCHC17) c.=,-:0.44,-:NOT_FOUND,- 1 31838551 rs5773353 T TA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6382,TA/0.3618;DB;DBA=NA;PAF=T/0.6382,TA/0.3618;DB;DBA=NA;PAF=T/0.6382,TA/0.3618;NP=17;PC=0.990;Gene=FABP3/NM_004102.3/1;CC=c.*181dupT;VC=3UTR;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:T,TA:5:6:4:0:2,3:63,130:0.00,9.83:0.00,8.04:0.00,1.79:0.00,0.73:0.00,0.73:0.00,0.67:60,60:42.5,8.3:0,1:0,0:93,38:57,111:40,34:-,NM_004102.3(FABP3) c.*181dupT:-,NOT_FOUND:-,NOT_FOUND 1 31838787 . C . . NT END=31840239;NT GT ./. 1 31838909 rs71035095 ATGTGTGTGTG A 13 idl,nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=189;PC=0.001;Gene=FABP3/NM_004102.3/1;CC=c.349-133_349-124delCACACACACA;VC=Intron;DM=FABP3/Lipocalin;DM=FABP3/Lipocalin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:ATGTGTGTGTG,A:21:3:0:9:16,5:467,277:0.00,12.65:0.00,-0.15:0.00,12.79:0.00,0.83:0.00,0.53:0.00,0.83:60,60:47.7,53.2:0,4:0,0:102,62:49,86:39,18:-,NM_004102.3(FABP3) c.349-133_349-124delCACACACACA:-,NOT_FOUND:-,NOT_FOUND 1 31838995 rs905931 T C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.01238,C/0.9876;Gene=FABP3/NM_004102.3/1;CC=c.349-209A>G;VC=Intron;DM=FABP3/Lipocalin;DM=FABP3/Lipocalin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:319:36.66:0.00:36.66:1.00:0.00:1.00:60:61.1:0:0:126:18:8:NM_004102.3(FABP3) c.349-209A>G,NM_004102.3(FABP3) c.349-209A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 31840342 . C . . NT END=31842231;NT GT ./. 1 31840426 rs2271072 C G 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.5901,G/0.4099;Gene=FABP3/NM_004102.3/1;CC=c.247-85G>C;VC=Intron;DM=FABP3/Lipocalin;DM=FABP3/Lipocalin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,G:24:1:0:0:19,5:621,173:0.00,14.36:0.00,-0.05:0.00,14.41:0.00,0.83:0.00,0.47:0.00,0.83:60,60:12.1,34.6:0,0:0,0:85,108:66,42:29,16:-,NM_004102.3(FABP3) c.247-85G>C:-,0.44:-,NOT_FOUND 1 31842405 . C . . NT END=31845788;NT GT ./. 1 31845862 . A . . NT END=31882684;NT GT ./. 1 31882582 rs4012494 G GGCCTCA 29 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4065,GGCCT/.,GGCCTCA/0.5935;NP=30;Gene=SERINC2/NM_001199038.1/0;CC=c.-100_-99insTCAGCC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGCCTCA:26:22:10:0:16,10:521,319:0.00,29.15:0.00,15.65:0.00,13.51:0.00,1.00:0.00,1.00:0.00,0.98:60,60:11.9,0.0:0,0:0,0:52,24:97,126:25,6:-,NM_001199038.1(SERINC2) c.-100_-99insTCAGCC:-,NOT_FOUND:-,NOT_FOUND 1 31882700 . G . . NT END=31883020;NT GT ./. 1 31882741 rs188243172 C T 76 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.9982,T/0.001797;NP=3;Gene=SERINC2/NM_001199038.1/0;CC=c.15+42C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:43:28:0:0:1,17,25:12,544,768:0.13,0.00,76.36:-0.09,0.00,28.58:0.22,0.00,47.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:252.0,10.8,37.0:0,0,0:0,0,0:31,93,108:113,57,42:0,36,14:-,NM_001199038.1(SERINC2) c.15+42C>T:-,0.0014:-,0.005014 1 31883283 . g . . NT END=31885962;NT GT ./. 1 31883295 rs6701521 T C 147 nt VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.4065,C/0.5935;Gene=SERINC2/NM_001199038.1/0;CC=c.66+13T>C;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+13T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:95:59:0:0:48,47:1531,1563:147.33,0.00:52.44,0.00:94.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,6.0:0,0:0,0:54,79:95,69:17,28:NM_001199038.1(SERINC2) c.66+13T>C,-:0.57,-:NOT_FOUND,- 1 31883475 rs4949208 G A 79 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.02436,A/0.9756;Gene=SERINC2/NM_001199038.1/0;CC=c.66+193G>A;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+193G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:0:0:0:23:684:79.23:0.00:79.23:1.00:0.00:1.00:60:38.2:0:0:99:52:28:NM_001199038.1(SERINC2) c.66+193G>A,NM_001199038.1(SERINC2) c.66+193G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 31885859 rs10914375 A G 30 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.4056,G/0.5944;PC=0.116;Gene=SERINC2/NM_001199038.1/0;CC=c.66+2577A>G;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+2577A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:27:25:0:0:16,1,10:510,10,331:0.00,0.03,30.34:0.00,0.10,29.47:0.00,-0.07,0.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.94:60,60,60:13.9,29.0,42.3:0,0,0:0,0,0:36,59,41:115,92,109:24,0,19:-,NM_001199038.1(SERINC2) c.66+2577A>G:-,0.57:-,NOT_FOUND 1 31886152 . G . . NT END=31886659;NT GT ./. 1 31886163 rs12042883 C T 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.7153,T/0.2847;PC=0.001;Gene=SERINC2/NM_001199038.1/0;CC=c.66+2881C>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+2881C>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+12C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:28:0:0:23,24:735,749:0.00,72.16:0.00,28.11:0.00,44.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,46.3:0,0:0,0:92,101:54,46:42,26:-,NM_001199038.1(SERINC2) c.66+2881C>T:-,0.29:-,NOT_FOUND 1 31886564 rs10914376 C G 60 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.4419,G/0.5581;Gene=SERINC2/NM_001199038.1/0;CC=c.66+3282C>G;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+3282C>G;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+413C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:41:0:0:27,20:909,644:0.00,60.02:0.00,37.52:0.00,22.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,39.3:0,0:0,0:60,40:91,105:46,15:-,NM_001199038.1(SERINC2) c.66+3282C>G:-,0.53:-,NOT_FOUND 1 31886750 rs78049982 G GTCCC 95 PASS VT=INS;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.7606,GTCCC/0.2394;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.7606,GTCCC/0.2394;NP=102;Gene=SERINC2/NM_001199038.1/0;CC=c.66+3474_66+3475insCCTC;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+3474_51+3475insCCTC;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+605_39+606insCCTC;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.-1030_-1029insCCTC;VC=5UTR;Gene=SERINC2/NM_018565.3/0;CC=c.-105_-104insCCTC;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTCCC:105:81:35:0:70,35:2002,1071:0.00,94.90:0.00,60.39:0.00,34.50:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.7,11.9:0,0:0,0:56,43:94,107:39,31:-,NM_001199038.1(SERINC2) c.66+3468_66+3469insTCCC:-,0.21:-,NOT_FOUND 1 31887268 rs4012493 T TGTGTGTGTGTGTGTG 84 idl VT=INS;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.519,TG/.,TGTG/.,TGTGTGTG/.,TGTGTGTGTG/.,TGTGTGTGTGTG/.,TGTGTGTGTGTGTGTG/.,TGTGTGTGTGTGTGTGTG/0.481,TGTGTGTGTGTGTGTGTGTGTGTG/.,TTGTGTGTG/.,TTGTGTGTGTG/.;NP=1;NP=1;NP=28;NP=3;PC=0.102;Gene=SERINC2/NM_001199038.1/0;CC=c.66+3986_66+3987insGTGTGTGTGTGTGTG;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+3986_51+3987insGTGTGTGTGTGTGTG;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+1117_39+1118insGTGTGTGTGTGTGTG;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.-518_-517insGTGTGTGTGTGTGTG;VC=5UTR;Gene=SERINC2/NM_018565.3/0;CC=c.51+357_51+358insGTGTGTGTGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TGTGTGTGTGTGTGTG,D:75:63:55:1:3,40,31,1:97,1041,1659,24:6.04,0.00,84.37,0.76:-0.32,0.00,42.65,-0.10:6.36,0.00,41.72,0.86:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:112.3,20.3,55.4,44.0:0,2,24,0:0,0,0,0:82,110,91,65:69,34,36,84:11,23,26,0:-,NM_001199038.1(SERINC2) c.66+3986_66+3987insGTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 31887303 rs2377854 A T 74 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=0.037;Gene=SERINC2/NM_001199038.1/0;CC=c.66+4021A>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+4021A>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+1152A>T;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.-483A>T;VC=5UTR;Gene=SERINC2/NM_018565.3/0;CC=c.51+392A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:82:38:0:1:51,2,29:1400,19,825:0.00,-0.16,73.59:0.00,0.17,22.50:0.00,-0.33,51.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.5,59.5,57.1:0,1,0:0,0,0:56,68,58:73,74,69:41,52,29:-,NM_001199038.1(SERINC2) c.66+4021A>T:-,0.3:-,NOT_FOUND 1 31887505 rs12729234 G A 181 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.4395,A/0.5605;PC=0.001;Gene=SERINC2/NM_001199038.1/0;CC=c.66+4223G>A;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+4223G>A;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+1354G>A;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.-281G>A;VC=5UTR;Gene=SERINC2/NM_018565.3/0;CC=c.51+594G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:133:87:0:0:62,71:1912,2360:180.83,0.00:94.43,0.00:86.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,12.1:0,0:0,0:78,84:71,67:31,32:NM_001199038.1(SERINC2) c.66+4223G>A,-:0.54,-:NOT_FOUND,- 1 31887625 . G . . NT END=31888719;NT GT ./. 1 31888680 rs6703368 T C 216 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.03295,C/0.9671;Gene=SERINC2/NM_001199038.1/0;CC=c.66+5398T>C;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+5398T>C;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+2529T>C;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.-161-40T>C;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.51+1769T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C,T:61:46:0:0:60,1:1894,10:216.11,0.00:133.44,0.00:82.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,128.0:0,0:0,0:45,70:99,80:26,0:NM_001199038.1(SERINC2) c.66+5398T>C,NM_001199038.1(SERINC2) c.66+5398T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 31888755 . G . . NT END=31896539;NT GT ./. 1 31888836 rs10737357 T C 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.4091,C/0.5909;Gene=SERINC2/NM_001199038.1/0;CC=c.66+5554T>C;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.51+5554T>C;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.39+2685T>C;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.-127+82T>C;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.51+1925T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:18:0:0:14,23:415,775:37.45,0.00:14.94,0.00:22.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,1.7:0,0:0,0:95,95:52,56:26,23:NM_001199038.1(SERINC2) c.66+5554T>C,-:0.57,-:NOT_FOUND,- 1 31896702 . G . . NT END=31897529;NT GT ./. 1 31897293 rs1317251 A G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6751,G/0.3249;Gene=SERINC2/NM_001199038.1/0;CC=c.229-237A>G;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.214-237A>G;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.202-237A>G;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.37-237A>G;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.214-237A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,G:7:7:0:0:4,3:125,80:0.00,7.33:0.00,7.33:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:7.5,49.0:0,0:0,0:26,50:123,101:14,6:-,NM_001199038.1(SERINC2) c.229-237A>G:-,0.36:-,NOT_FOUND 1 31897493 rs1320585 A G 275 nt VT=SNV;PN=G;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.09085,G/0.9091;Gene=SERINC2/NM_001199038.1/0;CC=c.229-37A>G;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.214-37A>G;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.202-37A>G;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.37-37A>G;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.214-37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:77:65:0:0:77:2381:274.69:184.39:90.30:1.00:1.00:1.00:60:44.3:0:0:46:96:29:NM_001199038.1(SERINC2) c.229-37A>G,NM_001199038.1(SERINC2) c.229-37A>G:0.93,0.93:0.922631,0.922631 1 31897721 . G . . NT END=31898176;NT GT ./. 1 31897963 rs4949209 C T 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6504,T/0.3496;Gene=SERINC2/NM_001199038.1/0;CC=c.420-214C>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.405-214C>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.393-214C>T;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.228-214C>T;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.405-214C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,T:8:3:0:0:5,3:151,85:0.00,7.63:0.00,-0.61:0.00,8.25:0.00,0.67:0.00,0.78:0.00,0.90:60,60:8.6,45.0:0,0:0,0:31,110:120,39:27,40:-,NM_001199038.1(SERINC2) c.420-214C>T:-,0.39:-,NOT_FOUND 1 31898132 rs4949400 T C 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6835,C/0.3165;Gene=SERINC2/NM_001199038.1/0;CC=c.420-45T>C;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.405-45T>C;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.393-45T>C;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.228-45T>C;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.405-45T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:20:0:0:8,14:263,468:23.86,0.00:13.36,0.00:10.50,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:82.4,1.3:0,0:0,0:49,60:101,90:8,26:NM_001199038.1(SERINC2) c.420-45T>C,-:0.36,-:0.450484,- 1 31898162 rs4949401 C T 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6833,T/0.3167;Gene=SERINC2/NM_001199038.1/0;CC=c.420-15C>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.405-15C>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.393-15C>T;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.228-15C>T;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.405-15C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:23:0:0:15,12:490,418:0.00,39.47:0.00,24.79:0.00,14.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,96.0:0,0:0,0:66,47:78,104:24,32:-,NM_001199038.1(SERINC2) c.420-15C>T:-,0.36:-,0.453099 1 31898234 rs4949402 T C 44 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.65,C/0.35;PC=0.988;Gene=SERINC2/NM_001199038.1/0;CC=c.477T>C;ProtCh=p.I159=;VC=Silent;Gene=SERINC2/NM_001199037.1/0;CC=c.462T>C;ProtCh=p.I154=;VC=Silent;Gene=SERINC2/NM_178865.4/0;CC=c.450T>C;ProtCh=p.I150=;VC=Silent;Gene=SERINC2/NM_001199039.1/1;CC=c.285T>C;ProtCh=p.I95=;VC=Silent;Gene=SERINC2/NM_018565.3/0;CC=c.462T>C;ProtCh=p.I154=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:22:0:0:14,19:471,612:44.02,0.00:21.08,0.00:22.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:89.6,9.3:0,0:0,0:89,85:44,58:22,36:NM_001199038.1(SERINC2) c.477T>C (p.(=)),-:0.39,-:0.453637,- 1 31898257 . G . . NT END=31898622;NT GT ./. 1 31898279 rs4949403 A C 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.6833,C/0.3167;Gene=SERINC2/NM_001199038.1/0;CC=c.499+23A>C;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.484+23A>C;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.472+23A>C;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.307+23A>C;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.484+23A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,C:21:12:0:0:15,6:477,198:0.00,17.21:0.00,12.42:0.00,4.79:0.00,0.93:0.00,0.96:0.00,0.99:60,60:11.6,77.3:0,0:0,0:94,86:39,45:25,24:-,NM_001199038.1(SERINC2) c.499+23A>C:-,0.36:-,0.452868 1 31898463 rs2275436 C T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6833,T/0.3167;Gene=SERINC2/NM_001199038.1/0;CC=c.500-160C>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.485-160C>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.473-160C>T;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.308-160C>T;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.485-160C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:17:0:0:9,11:268,319:0.00,31.14:0.00,24.16:0.00,6.99:0.00,1.00:0.00,1.00:0.00,0.92:60,60:24.7,57.0:0,0:0,0:67,76:84,73:46,49:-,NM_001199038.1(SERINC2) c.500-160C>T:-,0.36:-,NOT_FOUND 1 31898536 rs2275435 C T 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6833,T/0.3167;Gene=SERINC2/NM_001199038.1/0;CC=c.500-87C>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.485-87C>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.473-87C>T;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.308-87C>T;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.485-87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:42:0:0:26,19:795,647:0.00,60.46:0.00,43.59:0.00,16.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,53.6:0,0:0,0:37,43:108,107:17,27:-,NM_001199038.1(SERINC2) c.500-87C>T:-,0.36:-,NOT_FOUND 1 31898761 . G . . NT END=31899500;NT GT ./. 1 31899671 . G . . NT END=31901824;NT GT ./. 1 31899684 rs10454445 A T 183 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.08746,C/.,T/0.9125;PC=0.001;Gene=SERINC2/NM_001199038.1/0;CC=c.807+14A>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.792+14A>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.780+14A>T;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.615+14A>T;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.792+14A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:T:51:21:0:0:51:1583:182.56:51.02:131.54:1.00:1.00:1.00:60:58.9:0:0:106:45:30:NM_001199038.1(SERINC2) c.807+14A>T,NM_001199038.1(SERINC2) c.807+14A>T:0.93,0.93:0.921882,0.921882 1 31899704 rs10454446 C T 162 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.261,T/0.739;Gene=SERINC2/NM_001199038.1/0;CC=c.807+34C>T;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.792+34C>T;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.780+34C>T;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.615+34C>T;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.792+34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:T:42:14:0:0:42:1419:161.90:39.82:122.08:1.00:1.00:1.00:60:67.3:0:0:101:48:26:NM_001199038.1(SERINC2) c.807+34C>T,NM_001199038.1(SERINC2) c.807+34C>T:0.76,0.76:0.737044,0.737044 1 31901652 rs2297884 T G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5799,G/0.4201;PC=0.292;Gene=SERINC2/NM_001199038.1/0;CC=c.808-173T>G;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.793-173T>G;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.781-173T>G;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.616-173T>G;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.793-173T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:G,T:14:14:0:0:9,5:255,145:25.76,0.00:25.76,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:63.3,16.6:0,0:0,0:57,12:94,139:14,3:NM_001199038.1(SERINC2) c.808-173T>G,-:0.41,-:NOT_FOUND,- 1 31901916 . G . . NT END=31902243;NT GT ./. 1 31902386 . G . . NT END=31905813;NT GT ./. 1 31902418 rs10047085 A G 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.5695,G/0.4305;Gene=SERINC2/NM_001199038.1/0;CC=c.1040+33A>G;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.1025+33A>G;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.1013+33A>G;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.848+33A>G;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.1025+33A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:21:0:0:38,28:1221,922:0.00,86.03:0.00,20.86:0.00,65.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,33.7:0,0:0,0:110,97:40,42:19,23:-,NM_001199038.1(SERINC2) c.1040+33A>G:-,0.42:-,0.404506 1 31905730 rs7547845 T C 193 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=SERINC2/NM_001199038.1/0;CC=c.1041-84T>C;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.1026-84T>C;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.1014-84T>C;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.849-84T>C;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.1026-84T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A,C:56:55:0:0:1,55:11,1674:0.21,193.07:0.21,180.03:0.00,13.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.0,36.4:0,0:0,0:98,39:53,112:0,27:NM_001199038.1(SERINC2) c.1041-84T>C,NM_001199038.1(SERINC2) c.1041-84T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 31905889 rs3050461 A ACAG 293 PASS VT=INS;SST=Single;DP=115;DB;DBA=NA;PAF=A/0.261,ACAG/0.739,ACAGCAG/.,ACCAG/.,AG/.;NP=2448;PC=0.029;Gene=SERINC2/NM_001199038.1/0;CC=c.1129_1131dupCAG;ProtCh=p.Q377_V378insQ;VC=InFrameIns;Gene=SERINC2/NM_001199037.1/0;CC=c.1114_1116dupCAG;ProtCh=p.Q372_V373insQ;VC=InFrameIns;Gene=SERINC2/NM_178865.4/0;CC=c.1102_1104dupCAG;ProtCh=p.Q368_V369insQ;VC=InFrameIns;Gene=SERINC2/NM_001199039.1/1;CC=c.937_939dupCAG;ProtCh=p.Q313_V314insQ;VC=InFrameIns;Gene=SERINC2/NM_018565.3/0;CC=c.1114_1116dupCAG;ProtCh=p.Q372_V373insQ;VC=InFrameIns;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,ACAG:115:78:87:0:27,1,87:810,29,2792:0.00,1.25,293.41:0.00,1.30,143.65:0.00,-0.05,149.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.8,29.0,4.2:0,0,0:0,0,0:127,0,58:16,150,91:15,0,28:-,NM_001199038.1(SERINC2) c.1129_1131dupCAG (p.Gln377dup):-,NOT_FOUND:-,NOT_FOUND 1 31906033 . G . . NT END=31906910;NT GT ./. 1 31906882 rs11587589 A G 428 nt VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.1486,G/0.8514;Gene=SERINC2/NM_001199038.1/0;CC=c.1260-29A>G;VC=Intron;Gene=SERINC2/NM_001199037.1/0;CC=c.1245-29A>G;VC=Intron;Gene=SERINC2/NM_178865.4/0;CC=c.1233-29A>G;VC=Intron;Gene=SERINC2/NM_001199039.1/1;CC=c.1068-29A>G;VC=Intron;Gene=SERINC2/NM_018565.3/0;CC=c.1245-29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:118:102:0:0:118:3724:428.49:277.77:150.71:1.00:1.00:1.00:60:36.8:0:0:48:90:32:NM_001199038.1(SERINC2) c.1260-29A>G,NM_001199038.1(SERINC2) c.1260-29A>G:0.89,0.89:0.95479,0.95479 1 31907047 . G . . NT END=32042749;NT GT ./. 1 31907102 rs7417775 A G 178 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.3444,G/0.6556;Gene=SERINC2/NM_001199038.1/0;CC=c.*56A>G;VC=3UTR;Gene=SERINC2/NM_001199037.1/0;CC=c.*56A>G;VC=3UTR;Gene=SERINC2/NM_178865.4/0;CC=c.*56A>G;VC=3UTR;Gene=SERINC2/NM_001199039.1/1;CC=c.*56A>G;VC=3UTR;Gene=SERINC2/NM_018565.3/0;CC=c.*56A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:G:49:13:0:0:49:1545:177.69:26.88:150.81:1.00:1.00:1.00:60:38.7:0:0:94:56:26:NM_001199038.1(SERINC2) c.*56A>G,NM_001199038.1(SERINC2) c.*56A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 31961325 rs4949211 C T 57 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6931,A/.,T/0.3069;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:15:0:0:15:495:56.65:56.65:0.00:1.00:1.00:0.00:60:42.3:0:0:60:90:33:chr1 g.31961324C>T (intergenic),chr1 g.31961324C>T (intergenic):0.34,0.34:NOT_FOUND,NOT_FOUND 1 32019696 rs61778621 T G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4958,G/0.5042;NP=301;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:139:15.81:9.94:5.87:1.00:1.00:1.00:60:86.8:0:0:56:86:31:chr1 g.32019695T>G (intergenic),chr1 g.32019695T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32019699 rs61778622 A T 10 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5214,T/0.4786;NP=1;NP=184;NP=19;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:4:3:0:0:1,3:35,99:0.00,10.35:0.00,9.03:0.00,1.32:0.00,0.85:0.00,0.99:0.00,0.95:60,60:34.0,105.3:0,0:0,0:117,39:23,96:0,23:-,chr1 g.32019698A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 32019701 rs61778623 T A 11 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=196;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,T:4:3:0:0:3,1:102,34:10.65,0.00:9.33,0.00:1.32,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,60:105.3,34.0:0,0:0,0:41,119:94,21:23,0:chr1 g.32019700T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 32042540 rs7544140 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7572,A/0.2428;Gene=TINAGL1/NM_001204414.1/0;CC=c.-15-195G>A;VC=Intron;Gene=TINAGL1/NM_022164.2/1;CC=c.-15-195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:A,G:15:15:0:0:7,8:178,211:16.59,0.00:16.59,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:46.3,5.9:0,0:0,0:46,41:105,109:17,23:NM_022164.2(TINAGL1) c.-15-195G>A,-:0.27,-:NOT_FOUND,- 1 32043060 . G . . NT END=32043745;NT GT ./. 1 32043790 . G . . NT END=32044804;NT GT ./. 1 32043844 rs111661862 G GGTGT 23 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7965,GGT/0.2035,GGTGT/.,GGTGTGTGT/.;NP=1;NP=26;PC=0.024;Gene=TINAGL1/NM_001204414.1/0;CC=c.310+818_310+819insTGTG;VC=Intron;Gene=TINAGL1/NM_022164.2/1;CC=c.310+818_310+819insTGTG;VC=Intron;Gene=TINAGL1/NM_001204415.1/0;CC=c.-6+88_-6+89insTGTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GGTGT:32:22:13:0:22,1,9:734,29,392:0.00,1.56,22.83:0.00,-0.12,18.09:0.00,1.68,4.74:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:11.1,115.0,41.1:0,0,4:0,0,0:116,87,79:29,64,67:17,0,14:-,NM_022164.2(TINAGL1) c.310+785_310+786insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 32044641 rs12753402 G A 15 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.128;Gene=TINAGL1/NM_001204414.1/0;CC=c.311-164G>A;VC=Intron;Gene=TINAGL1/NM_022164.2/1;CC=c.311-164G>A;VC=Intron;Gene=TINAGL1/NM_001204415.1/0;CC=c.-5-164G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:131:15.45:13.91:1.54:1.00:1.00:1.00:60:77.4:0:0:13:138:13:NM_022164.2(TINAGL1) c.311-164G>A,NM_022164.2(TINAGL1) c.311-164G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32044869 . G . . NT END=32045888;NT GT ./. 1 32045664 rs67386887 CTG C 9 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=17;PC=0.005;Gene=TINAGL1/NM_001204414.1/0;CC=c.374+818_374+819delGT;VC=Intron;Gene=TINAGL1/NM_022164.2/1;CC=c.374+818_374+819delGT;VC=Intron;Gene=TINAGL1/NM_001204415.1/0;CC=c.59+818_59+819delGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:CTG,C:9:11:0:5:6,3:190,153:0.00,9.11:0.00,7.54:0.00,1.57:0.00,0.60:0.00,0.60:0.00,0.65:60,60:15.2,11.7:0,2:0,0:35,69:115,82:26,22:-,NM_022164.2(TINAGL1) c.374+797_374+798delTG:-,NOT_FOUND:-,NOT_FOUND 1 32045800 rs12067484 C G 12 idl;end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TINAGL1/NM_001204414.1/0;CC=c.374+932C>G;VC=Intron;Gene=TINAGL1/NM_022164.2/1;CC=c.374+932C>G;VC=Intron;Gene=TINAGL1/NM_001204415.1/0;CC=c.59+932C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,G,T,I:27:26:2:2:19,6,1,1:616,156,25,59:0.00,12.47,1.24,2.03:0.00,12.89,1.31,2.10:0.00,-0.42,-0.06,-0.06:0.00,0.91,0.00,0.00:0.00,0.99,0.00,0.00:0.00,0.74,0.00,0.00:60,60,60,60:58.5,84.2,25.0,24.0:0,0,0,1:0,0,0,0:76,4,147,63:47,146,4,82:40,3,0,3:-,NM_022164.2(TINAGL1) c.374+932C>G:-,0.2:-,NOT_FOUND 1 32045814 rs61778628 G C 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=331;PC=0.108;Gene=TINAGL1/NM_001204414.1/0;CC=c.374+946G>C;VC=Intron;Gene=TINAGL1/NM_022164.2/1;CC=c.374+946G>C;VC=Intron;Gene=TINAGL1/NM_001204415.1/0;CC=c.59+946G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:30:28:0:3:17,13:569,315:56.17,0.00:40.85,0.00:15.32,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:51.9,53.0:0,0:0,0:25,66:116,85:18,50:NM_022164.2(TINAGL1) c.374+946G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 32046399 . a . . NT END=32048749;NT GT ./. 1 32048843 . G . . NT END=32049061;NT GT ./. 1 32049177 . G . . NT END=32050278;NT GT ./. 1 32050403 . G . . NT END=32050486;NT GT ./. 1 32050638 . G . . NT END=32050751;NT GT ./. 1 32050942 . G . . NT END=32051040;NT GT ./. 1 32051087 . G . . NT END=32051353;NT GT ./. 1 32051478 . G . . NT END=32052310;NT GT ./. 1 32052145 rs45611233 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9179,A/0.08207;PC=0.004;Gene=TINAGL1/NM_001204414.1/0;CC=c.1125-166G>A;VC=Intron;Gene=TINAGL1/NM_022164.2/1;CC=c.1218-166G>A;VC=Intron;Gene=TINAGL1/NM_001204415.1/0;CC=c.903-166G>A;VC=Intron;DM=TINAGL1/Peptidase_C1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,G:13:13:0:0:6,7:151,232:14.03,0.00:14.03,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:35.0,3.0:0,0:0,0:39,42:110,109:31,41:NM_022164.2(TINAGL1) c.1218-166G>A,-:0.1,-:NOT_FOUND,- 1 32052357 . G . . NT END=32052439;NT GT ./. 1 32052624 . G . . NT END=32084793;NT GT ./. 1 32067519 rs57358023 T TTG 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1382,TTG/.,TTGTG/0.8618;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=11;NP=295;PC=0.488;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TTG:2:3:4:0:2:127:7.05:2.14:4.91:0.51:0.89:0.51:60:8.0:2:0:54:81:26:chr1 g.32067519_32067520insTG (intergenic),chr1 g.32067519_32067520insTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32078710 rs10798878 C T 24 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.02177,T/0.9782;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:1:0:0:7:203:23.60:1.94:21.66:1.00:1.00:1.00:60:59.4:0:0:63:75:35:NM_001525.2(HCRTR1) c.-385-u4591C>T,NM_001525.2(HCRTR1) c.-385-u4591C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 32081720 rs397800199 GCA T,G 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:16:T,G:4:4:0:3:1,3:21,98:1.98,10.86:1.98,7.25:0.00,3.60:0.00,0.85:0.00,0.85:0.00,0.95:60,60:43.0,10.3:0,0:0,0:63,24:74,122:0,0:NM_001525.2(HCRTR1) c.-385-u1581_-385-u1579delGCAinsT,NM_001525.2(HCRTR1) c.-385-u1580_-385-u1579delCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32084993 . G . . NT END=32085132;NT GT ./. 1 32085312 . G . . NT END=32086443;NT GT ./. 1 32086688 . G . . NT END=32087077;NT GT ./. 1 32087194 . G . . NT END=32089123;NT GT ./. 1 32088897 rs397979798 CA C 22 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.020;Gene=HCRTR1/NM_001525.2/1;CC=c.739-211delA;VC=Intron;DM=HCRTR1/7tm_1;DM=HCRTR1/7tm_1;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:6:6:187:21.56:21.56:0.00:1.00:1.00:0.00:60:22.2:0:0:41:109:20:NM_001525.2(HCRTR1) c.739-226delA,NM_001525.2(HCRTR1) c.739-226delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32089351 . G . . NT END=32090597;NT GT ./. 1 32090720 . G . . NT END=32092390;NT GT ./. 1 32092920 . A . . NT END=32092923;NT GT ./. 1 32092947 . A . . NT END=32096213;NT GT ./. 1 32096444 . C . . NT END=32098095;NT GT ./. 1 32098240 . C . . NT END=32098759;NT GT ./. 1 32098916 . C . . NT END=32100822;NT GT ./. 1 32101124 . C . . NT END=32109980;NT GT ./. 1 32110219 . C . . NT END=32110441;NT GT ./. 1 32110466 . G . . NT END=32118251;NT GT ./. 1 32118455 . C . . NT END=32119199;NT GT ./. 1 32119278 . C . . NT END=32119467;NT GT ./. 1 32119347 rs376725697 AAC A 33 idl,rn VT=DEL;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=30;PC=0.001;Gene=COL16A1/NM_001856.3/1;CC=c.4535-72_4535-71delGT;VC=Intron;DM=COL16A1/Collagen;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,I,A:101:73:3:17:84,3,14:2557,96,529:0.00,5.36,33.13:0.00,1.47,22.13:0.00,3.89,11.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:10.8,18.0,9.5:0,0,3:0,0,0:75,49,47:75,101,104:45,10,26:-,NM_001856.3(COL16A1) c.4535-72_4535-71delGT:-,NOT_FOUND:-,NOT_FOUND 1 32119645 . C . . NT END=32120392;NT GT ./. 1 32119815 rs116787462 T C 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.9962,C/0.003794;NP=11;Gene=COL16A1/NM_001856.3/1;CC=c.4358-171A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:0:0:0:12,22:352,671:31.34,0.00:0.00,0.00:31.34,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.8,19.5:0,0:0,0:103,104:45,46:24,34:NM_001856.3(COL16A1) c.4358-171A>G,-:0.0037,-:NOT_FOUND,- 1 32120460 . C . . NT END=32120914;NT GT ./. 1 32120569 . A T 12 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=107;PC=0.009;Gene=COL16A1/NM_001856.3/1;CC=c.4291-110T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C,T,I:107:15:1:2:92,1,13,1:2394,10,223,25:0.00,-0.27,11.94,0.62:0.00,-0.04,-0.62,-0.04:0.00,-0.22,12.56,0.66:0.00,0.00,1.00,0.00:0.00,0.00,0.77,0.00:0.00,0.00,1.00,0.00:60,60,60,60:25.8,120.0,101.4,53.0:20,1,4,0:0,0,0,0:136,113,48,72:11,7,98,79:12,0,26,0:-,NM_001856.3(COL16A1) c.4291-110T>A:-,NOT_FOUND:-,NOT_FOUND 1 32120572 rs199887343 C T 29 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=NA;PC=0.002;Gene=COL16A1/NM_001856.3/1;CC=c.4291-113G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I,D:92:12:8:14:63,17,6,6:1720,391,228,272:0.00,29.23,10.49,8.73:0.00,-0.78,-0.26,-0.26:0.00,30.01,10.75,8.99:0.00,1.00,0.00,0.00:0.00,0.84,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:27.0,92.7,36.5,116.8:1,8,2,5:0,0,0,0:142,79,76,106:6,70,75,44:6,28,23,7:-,NM_001856.3(COL16A1) c.4291-113G>A:-,NOT_FOUND:-,NOT_FOUND 1 32121104 . C . . NT END=32122000;NT GT ./. 1 32122046 . C . . NT END=32122633;NT GT ./. 1 32122670 . C . . NT END=32124088;NT GT ./. 1 32124179 . C . . NT END=32124514;NT GT ./. 1 32124566 . C . . NT END=32126185;NT GT ./. 1 32125943 rs10914462 A G 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5068,G/0.4932;PC=0.030;Gene=COL16A1/NM_001856.3/1;CC=c.3879+243T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:G:14:14:0:0:14:382:44.68:44.68:0.00:1.00:1.00:0.00:60:51.6:0:0:50:101:32:NM_001856.3(COL16A1) c.3879+243T>C,NM_001856.3(COL16A1) c.3879+243T>C:0.52,0.52:NOT_FOUND,NOT_FOUND 1 32126135 rs41263967 C T 378 nt VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.9469,T/0.05312;PC=0.002;Gene=COL16A1/NM_001856.3/1;CC=c.3879+51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:100:90:0:0:1,99:24,3333:0.00,378.08:0.00,284.01:0.00,94.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,38.1:0,0:0,0:36,46:112,98:0,32:NM_001856.3(COL16A1) c.3879+51G>A,NM_001856.3(COL16A1) c.3879+51G>A:0.07,0.07:0.098734,0.098734 1 32126240 . C . . NT END=32126666;NT GT ./. 1 32126721 . C . . NT END=32127014;NT GT ./. 1 32127060 . C . . NT END=32127260;NT GT ./. 1 32127306 . C . . NT END=32127934;NT GT ./. 1 32127911 rs2271927 C T 602 nt VT=SNV;PN=C;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.5276,T/0.4724;Gene=COL16A1/NM_001856.3/1;CC=c.3681+24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:159:143:0:0:1,158:14,5294:0.00,602.49:0.00,411.80:0.00,190.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:156.0,67.8:0,0:0,0:70,45:50,101:0,28:NM_001856.3(COL16A1) c.3681+24G>A,NM_001856.3(COL16A1) c.3681+24G>A:0.51,0.51:0.424463,0.424463 1 32127953 rs2271928 G A 685 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=185;DB;DBA=NA;PAF=G/0.5282,A/0.4718,C/.;PC=0.069;Gene=COL16A1/NM_001856.3/1;CC=c.3663C>T;ProtCh=p.D1221=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:185:151:0:0:184,1:5978,10:684.88,0.05:395.62,0.00:289.26,0.05:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,156.0:0,0:0,0:70,112:71,8:26,0:NM_001856.3(COL16A1) c.3663C>T (p.(=)),NM_001856.3(COL16A1) c.3663C>T (p.(=)):0.51,0.51:0.424505,0.424505 1 32127989 . C . . NT END=32128187;NT GT ./. 1 32128260 . C . . NT END=32130772;NT GT ./. 1 32128283 rs1568396 C G 221 nt VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.4902,A/.,G/0.5098;PC=0.001;Gene=COL16A1/NM_001856.3/1;CC=c.3556-24G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:C,G,I:68:15:1:0:5,62,1:120,1997,29:0.00,221.34,1.53:0.00,14.21,-0.03:0.00,207.13,1.56:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:35.0,48.4,12.0:0,0,0:0,0,0:119,89,7:5,57,144:5,37,0:NM_001856.3(COL16A1) c.3556-24G>C,NM_001856.3(COL16A1) c.3556-24G>C:0.51,0.51:0.593329,0.593329 1 32130836 . C . . NT END=32131183;NT GT ./. 1 32131220 . C . . NT END=32131482;NT GT ./. 1 32131537 . C . . NT END=32131637;NT GT ./. 1 32131683 . C . . NT END=32133175;NT GT ./. 1 32133230 . C . . NT END=32133765;NT GT ./. 1 32133737 rs2292988 C T 197 nt VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.6829,A/.,T/0.3171;Gene=COL16A1/NM_001856.3/1;CC=c.3303+29G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:T:53:44:0:0:53:1716:196.85:124.32:72.53:1.00:1.00:1.00:60:41.9:0:0:59:84:32:NM_001856.3(COL16A1) c.3303+29G>A,NM_001856.3(COL16A1) c.3303+29G>A:0.37,0.37:0.27916,0.27916 1 32133820 . C . . NT END=32134401;NT GT ./. 1 32134457 . C . . NT END=32136156;NT GT ./. 1 32136168 rs2292990 G T 438 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=NA;PC=0.905;Gene=COL16A1/NM_001856.3/1;CC=c.3195+35C>A;VC=Intron;DM=COL16A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:128:104:0:0:1,127:23,3807:0.00,438.34:0.00,265.13:0.00,173.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.0,37.9:0,0:0,0:148,39:3,107:0,23:NM_001856.3(COL16A1) c.3195+35C>A,NM_001856.3(COL16A1) c.3195+35C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32136248 . C . . NT END=32137215;NT GT ./. 1 32137261 . C . . NT END=32138016;NT GT ./. 1 32138104 . C . . NT END=32138196;NT GT ./. 1 32138239 . C . . NT END=32138324;NT GT ./. 1 32138442 . C . . NT END=32140607;NT GT ./. 1 32140641 . C . . NT END=32140858;NT GT ./. 1 32140913 . C . . NT END=32145232;NT GT ./. 1 32145009 rs4949461 C T 54 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.03674,T/0.9633;Gene=COL16A1/NM_001856.3/1;CC=c.2772+224G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:16:0:0:16:462:53.65:51.66:1.99:1.00:1.00:1.00:60:40.2:0:0:70:78:26:NM_001856.3(COL16A1) c.2772+224G>A,NM_001856.3(COL16A1) c.2772+224G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 32145287 . C . . NT END=32145404;NT GT ./. 1 32145453 . C . . NT END=32145642;NT GT ./. 1 32145703 . C . . NT END=32146505;NT GT ./. 1 32146533 . C . . NT END=32146623;NT GT ./. 1 32146669 . C . . NT END=32148534;NT GT ./. 1 32148571 rs10737358 A G 451 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=3457;Gene=COL16A1/NM_001856.3/1;CC=c.2502T>C;ProtCh=p.P834=;VC=Silent;DM=COL16A1/Collagen;DM=COL16A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:128:107:0:0:128:3899:450.57:273.05:177.52:1.00:1.00:1.00:60:38.7:0:0:55:84:27:NM_001856.3(COL16A1) c.2502T>C (p.(=)),NM_001856.3(COL16A1) c.2502T>C (p.(=)):1,1:0.99926,0.99926 1 32148604 . C . . NT END=32148794;NT GT ./. 1 32148849 . C . . NT END=32148934;NT GT ./. 1 32148971 . C . . NT END=32149307;NT GT ./. 1 32149350 . C . . NT END=32149550;NT GT ./. 1 32149605 . C . . NT END=32149709;NT GT ./. 1 32149833 . C . . NT END=32150123;NT GT ./. 1 32150232 . C . . NT END=32150421;NT GT ./. 1 32150458 . C . . NT END=32151239;NT GT ./. 1 32151372 . C . . NT END=32151691;NT GT ./. 1 32151737 . C . . NT END=32151844;NT GT ./. 1 32151881 . C . . NT END=32154067;NT GT ./. 1 32154104 . C . . NT END=32154461;NT GT ./. 1 32154573 . C . . NT END=32154650;NT GT ./. 1 32154687 . C . . NT END=32155341;NT GT ./. 1 32155453 . C . . NT END=32155967;NT GT ./. 1 32155995 . C . . NT END=32156129;NT GT ./. 1 32156175 . C . . NT END=32156788;NT GT ./. 1 32156828 . C . . NT END=32157017;NT GT ./. 1 32156869 rs10798884 A T 417 nt VT=SNV;PN=C;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=3458;Gene=COL16A1/NM_001856.3/1;CC=c.1399-42T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:112:78:0:0:1,111:6,3650:0.03,417.41:0.03,245.83:0.00,171.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:96.0,42.7:0,0:0,0:114,95:37,54:0,29:NM_001856.3(COL16A1) c.1399-42T>A,NM_001856.3(COL16A1) c.1399-42T>A:1,1:0.999097,0.999097 1 32157114 . C . . NT END=32157198;NT GT ./. 1 32157244 . C . . NT END=32157605;NT GT ./. 1 32157669 . C . . NT END=32158074;NT GT ./. 1 32158111 . C . . NT END=32158198;NT GT ./. 1 32158244 . C . . NT END=32158367;NT GT ./. 1 32158410 . C . . NT END=32158692;NT GT ./. 1 32158756 . C . . NT END=32159744;NT GT ./. 1 32159772 . C . . NT END=32160786;NT GT ./. 1 32160823 . C . . NT END=32161361;NT GT ./. 1 32161389 . C . . NT END=32161688;NT GT ./. 1 32161743 . C . . NT END=32162563;NT GT ./. 1 32162690 . C . . NT END=32162820;NT GT ./. 1 32162902 . C . . NT END=32163506;NT GT ./. 1 32163774 . C . . NT END=32164083;NT GT ./. 1 32164208 . C . . NT END=32165413;NT GT ./. 1 32165532 . C . . NT END=32165641;NT GT ./. 1 32165717 . C . . NT END=32166987;NT GT ./. 1 32167119 . G . . NT END=32167721;NT GT ./. 1 32167526 rs1815465 G C 65 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1820;Gene=COL16A1/NM_001856.3/1;CC=c.73+196C>G;VC=Intron;DM=COL16A1/Collagen;DM=COL16A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:16:0:0:18:560:64.54:57.19:7.35:1.00:1.00:1.00:60:39.7:0:0:38:113:15:NM_001856.3(COL16A1) c.73+196C>G,NM_001856.3(COL16A1) c.73+196C>G:1,1:NOT_FOUND,NOT_FOUND 1 32167795 . C . . NT END=32193020;NT GT ./. 1 32193207 . C . . NT END=32193625;NT GT ./. 1 32193683 . C . . NT END=32193782;NT GT ./. 1 32193882 . C . . NT END=32194198;NT GT ./. 1 32194235 . C . . NT END=32196400;NT GT ./. 1 32197021 . C . . NT END=32197715;NT GT ./. 1 32197756 . C . . NT END=32198117;NT GT ./. 1 32198214 . C . . NT END=32198572;NT GT ./. 1 32198745 . C . . NT END=32200783;NT GT ./. 1 32200883 . C . . NT END=32201180;NT GT ./. 1 32201267 . C . . NT END=32201427;NT GT ./. 1 32201495 . C . . NT END=32201921;NT GT ./. 1 32201992 . C . . NT END=32202173;NT GT ./. 1 32202325 . C . . NT END=32203029;NT GT ./. 1 32203133 . C . . NT END=32203252;NT GT ./. 1 32203357 . C . . NT END=32203800;NT GT ./. 1 32203928 . C . . NT END=32204187;NT GT ./. 1 32204035 rs12138106 C T 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.9926,T/0.007388;Gene=ADGRB2/NM_001294335.1/1;CC=c.2646-108G>A;VC=Intron;Gene=ADGRB2/NM_001294336.1/0;CC=c.2646-108G>A;VC=Intron;DM=ADGRB2/GPS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:22:0:0:28,19:900,569:0.00,52.16:0.00,19.95:0.00,32.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,37.9:0,0:0,0:105,114:44,36:34,15:-,NM_001703.2(BAI2) c.2646-108G>A:-,0.01:-,NOT_FOUND 1 32204232 . C . . NT END=32204432;NT GT ./. 1 32204539 . C . . NT END=32204908;NT GT ./. 1 32205237 . C . . NT END=32205526;NT GT ./. 1 32205636 . C . . NT END=32205710;NT GT ./. 1 32205780 . C . . NT END=32205947;NT GT ./. 1 32206143 . C . . NT END=32206973;NT GT ./. 1 32206496 rs74660629 G A,GCACA 22 idl;end,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=111;NP=15;NP=18;NP=2;NP=3;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:22:A,GCACA:7:7:6:0:1,6:34,193:3.03,21.76:3.03,16.19:0.00,5.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:162.0,16.3:0,0:0,0:5,56:146,95:0,42:NM_001703.2(BAI2) c.1795-354C>T,NM_001703.2(BAI2) c.1795-355_1795-354insTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32207081 . C . . NT END=32207224;NT GT ./. 1 32207327 . C . . NT END=32207400;NT GT ./. 1 32207569 . C . . NT END=32207653;NT GT ./. 1 32207819 . C . . NT END=32208438;NT GT ./. 1 32208604 . C . . NT END=32209793;NT GT ./. 1 32209959 . C . . NT END=32210248;NT GT ./. 1 32210333 . C . . NT END=32221599;NT GT ./. 1 32222417 . C . . NT END=32222801;NT GT ./. 1 32222883 . C . . NT END=32229484;NT GT ./. 1 32229665 . g . . NT END=32230280;NT GT ./. 1 32230404 . G . . NT END=32256203;NT GT ./. 1 32256086 rs13426 T C 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.2853,C/0.7147;Gene=SPOCD1/NM_001281987.1/1;CC=c.*118A>G;VC=3UTR;Gene=SPOCD1/NM_001281988.1/0;CC=c.*118A>G;VC=3UTR;Gene=SPOCD1/NM_144569.5/0;CC=c.*118A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:10,10:286,252:27.32,0.00:27.32,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.8,5.6:0,0:0,0:35,74:116,76:12,29:NM_144569.4(SPOCD1) c.=,-:0.66,-:NOT_FOUND,- 1 32256893 . C . . NT END=32257815;NT GT ./. 1 32258003 . C . . NT END=32258278;NT GT ./. 1 32258369 . C . . NT END=32258878;NT GT ./. 1 32258805 . AAG A 17 idl,rn VT=DEL;SST=Single;DP=64;NP=6;Gene=SPOCD1/NM_001281987.1/1;CC=c.2685+72_2685+73delCT;VC=Intron;Gene=SPOCD1/NM_001281988.1/0;CC=c.1164+72_1164+73delCT;VC=Intron;Gene=SPOCD1/NM_144569.5/0;CC=c.2685+72_2685+73delCT;VC=Intron;DM=SPOCD1/SPOC;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:AAG,G,I,A:61:61:1:11:51,1,1,8:1597,10,34,307:0.00,-0.21,1.73,17.44:0.00,-0.15,1.78,15.13:0.00,-0.06,-0.06,2.31:0.00,0.00,0.00,0.95:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.78:60,60,60,60:15.7,166.0,0.0,7.2:0,0,0,3:0,0,0,0:48,56,76,28:100,92,74,122:28,0,0,16:-,NM_144569.4(SPOCD1) c.2685+72_2685+73delCT:-,NOT_FOUND:-,NOT_FOUND 1 32259030 . C . . NT END=32259347;NT GT ./. 1 32259499 . C . . NT END=32259724;NT GT ./. 1 32259837 . C . . NT END=32262190;NT GT ./. 1 32262317 . C . . NT END=32263807;NT GT ./. 1 32263925 . C . . NT END=32264042;NT GT ./. 1 32264203 . C . . NT END=32265001;NT GT ./. 1 32265087 . C . . NT END=32265409;NT GT ./. 1 32265465 . C . . NT END=32265616;NT GT ./. 1 32265743 . C . . NT END=32266041;NT GT ./. 1 32266026 rs552124 A G 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.2636,G/0.7364;Gene=SPOCD1/NM_001281987.1/1;CC=c.1602+16T>C;VC=Intron;Gene=SPOCD1/NM_001281988.1/0;CC=c.81+16T>C;VC=Intron;Gene=SPOCD1/NM_144569.5/0;CC=c.1602+16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:41:0:0:24,29:775,895:0.00,87.36:0.00,48.39:0.00,38.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,42.8:0,0:0,0:54,44:89,106:36,29:-,NM_144569.4(SPOCD1) c.1602+16T>C:-,0.68:-,0.761044 1 32266219 . C . . NT END=32267264;NT GT ./. 1 32267307 . C . . NT END=32279551;NT GT ./. 1 32279629 rs6669563 G A 200 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.6538,A/0.3462;Gene=SPOCD1/NM_001281987.1/1;CC=c.1306C>T;ProtCh=p.R436W;VC=Missense;Gene=SPOCD1/NM_001281988.1/0;CC=c.-139+1933C>T;VC=Intron;Gene=SPOCD1/NM_144569.5/0;CC=c.1306C>T;ProtCh=p.R436W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:152:125:0:0:67,85:2133,2528:200.06,0.00:135.41,0.00:64.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,10.2:0,0:0,0:59,57:87,80:38,34:NM_144569.4(SPOCD1) c.1306C>T (p.Arg436Trp),-:0.4,-:0.3656,- 1 32280063 rs61741268 G A 261 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=202;DB;DBA=NA;PAF=G/0.9932,A/0.006789;Gene=SPOCD1/NM_001281987.1/1;CC=c.872C>T;ProtCh=p.T291I;VC=Missense;Gene=SPOCD1/NM_001281988.1/0;CC=c.-139+1499C>T;VC=Intron;Gene=SPOCD1/NM_144569.5/0;CC=c.872C>T;ProtCh=p.T291I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:202:131:0:0:90,112:2789,3723:261.46,0.00:131.40,0.00:130.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.5,9.5:0,0:0,0:82,82:65,61:30,41:NM_144569.4(SPOCD1) c.872C>T (p.Thr291Ile),-:0.01,-:0.016962,- 1 32280610 rs6664445 T C 702 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=182;DB;DBA=NA;PAF=T/0.3125,C/0.6875;PC=0.008;Gene=SPOCD1/NM_001281987.1/1;CC=c.325A>G;ProtCh=p.T109A;VC=Missense;Gene=SPOCD1/NM_001281988.1/0;CC=c.-139+952A>G;VC=Intron;Gene=SPOCD1/NM_144569.5/0;CC=c.325A>G;ProtCh=p.T109A;VC=Missense;DM=SPOCD1/TFIIS_M;DM=SPOCD1/TFIIS_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:182:136:0:0:182:6153:701.97:402.95:299.01:1.00:1.00:1.00:60:41.9:0:0:75:68:38:NM_144569.4(SPOCD1) c.325A>G (p.Thr109Ala),NM_144569.4(SPOCD1) c.325A>G (p.Thr109Ala):0.68,0.68:0.671767,0.671767 1 32280935 . G . . NT END=32374452;NT GT ./. 1 32372356 rs140739232 TAC T 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=144;Gene=PTP4A2/NM_001195100.1/0;CC=c.*2095_*2096delGT;VC=3UTR;Gene=PTP4A2/NM_001195101.1/0;CC=c.*2095_*2096delGT;VC=3UTR;Gene=PTP4A2/NM_080391.3/1;CC=c.*2095_*2096delGT;VC=3UTR;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:2:0:5:3:127:10.76:3.70:7.05:0.85:0.95:0.85:70:24.3:1:0:74:75:11:NM_080391.3(PTP4A2) c.*2065GT[15],NM_080391.3(PTP4A2) c.*2065GT[15]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 32374562 . C . . NT END=32375638;NT GT ./. 1 32375714 . C . . NT END=32377296;NT GT ./. 1 32377428 . C . . NT END=32381495;NT GT ./. 1 32381589 . C . . NT END=32384570;NT GT ./. 1 32381592 . TA T 22 idl,rn VT=DEL;SST=Single;DP=56;NP=16;PC=0.778;Gene=PTP4A2/NM_001195100.1/0;CC=c.97-5delT;VC=Intron;Gene=PTP4A2/NM_001195101.1/0;CC=c.96+2978delT;VC=Intron;Gene=PTP4A2/NM_080391.3/1;CC=c.97-5delT;VC=Intron;DM=PTP4A2/Y_phosphatase;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:TA,I,T:55:32:4:10:42,4,9:1248,129,311:0.00,8.88,22.28:0.00,3.30,6.23:0.00,5.58,16.05:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,1.00:60,60,70:20.5,3.0,32.7:0,0,1:0,0,0:99,109,112:44,42,35:16,4,21:-,NM_080391.3(PTP4A2) c.97-5delT:-,NOT_FOUND:-,0.123391 1 32384667 . T . . NT END=32479596;NT GT ./. 1 32479979 . G . . NT END=32495898;NT GT ./. 1 32496024 . G . . NT END=32497124;NT GT ./. 1 32497242 . G . . NT END=32498788;NT GT ./. 1 32498936 . G . . NT END=32502510;NT GT ./. 1 32502645 . G . . NT END=32503435;NT GT ./. 1 32503721 . G . . NT END=32504152;NT GT ./. 1 32504221 . G . . NT END=32505115;NT GT ./. 1 32505175 . G . . NT END=32508127;NT GT ./. 1 32508226 . A . . NT END=32538648;NT GT ./. 1 32538653 . G . . NT END=32539198;NT GT ./. 1 32539474 . G . . NT END=32540551;NT GT ./. 1 32540679 . G . . NT END=32541203;NT GT ./. 1 32541424 . G . . NT END=32542363;NT GT ./. 1 32542448 . G . . NT END=32542764;NT GT ./. 1 32542920 . G . . NT END=32557272;NT GT ./. 1 32557613 . G . . NT END=32560384;NT GT ./. 1 32560573 . G . . NT END=32566042;NT GT ./. 1 32566164 . G . . NT END=32568031;NT GT ./. 1 32567769 rs397862104 GA G 20 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=GA/0.9882,G/0.01178;DB;DBA=NA;PAF=GA/0.9882,G/0.01178;NP=10;PC=0.066;Gene=TMEM39B/NM_018056.2/1;CC=c.1237-260delA;VC=Intron;DM=TMEM39B/Tmp39;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:GA,G:10:10:0:6:4,6:127,200:0.00,19.94:0.00,19.94:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:8.5,0.0:0,0:0,0:43,82:107,68:3,11:-,NM_018056.2(TMEM39B) c.1237-262delA:-,0.01:-,NOT_FOUND 1 32568275 . G . . NT END=32573731;NT GT ./. 1 32573736 . G . . NT END=32608523;NT GT ./. 1 32608626 . G . . NT END=32620188;NT GT ./. 1 32620323 . G . . NT END=32622453;NT GT ./. 1 32622547 . G . . NT END=32622946;NT GT ./. 1 32623047 . G . . NT END=32623867;NT GT ./. 1 32623963 . G . . NT END=32625000;NT GT ./. 1 32625133 . G . . NT END=32626215;NT GT ./. 1 32626305 . G . . NT END=32627547;NT GT ./. 1 32627648 . G . . NT END=32627961;NT GT ./. 1 32628126 . G . . NT END=32628835;NT GT ./. 1 32628915 . G . . NT END=32631705;NT GT ./. 1 32631598 rs77903899 C CA 10 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.994;Gene=KPNA6/NM_012316.4/1;CC=c.991-97_991-96insA;VC=Intron;DM=KPNA6/Arm;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,C,CA,D:28:23:4:1:2,21,4,1:19,632,124,34:0.17,0.00,9.53,2.10:-0.59,0.00,7.66,2.14:0.76,0.00,1.87,-0.04:0.00,0.00,0.66,0.00:0.00,0.00,0.93,0.00:0.00,0.00,0.58,0.00:60,60,70,60:32.0,16.3,68.2,8.0:0,0,0,0:0,0,0,0:44,42,97,88:100,109,53,62:13,22,28,0:-,NM_012316.4(KPNA6) c.991-108_991-107insA:-,NOT_FOUND:-,NOT_FOUND 1 32631832 . G . . NT END=32632769;NT GT ./. 1 32632898 . G . . NT END=32635482;NT GT ./. 1 32635662 . G . . NT END=32636307;NT GT ./. 1 32636496 . T . . NT END=32645946;NT GT ./. 1 32646116 . G . . NT END=32646842;NT GT ./. 1 32646722 rs557972962 T TA 9 rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=20;PC=0.001;Gene=TXLNA/NM_175852.3/1;CC=c.170-111dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:T,TA:40:41:5:0:36,4:1072,160:0.00,9.37:0.00,9.37:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,60:5.6,0.0:0,1:0,0:58,34:93,117:38,12:-,NM_175852.3(TXLNA) c.170-121_170-120insA:-,NOT_FOUND:-,NOT_FOUND 1 32647179 . G . . NT END=32650125;NT GT ./. 1 32650218 . G . . NT END=32653554;NT GT ./. 1 32653726 . G . . NT END=32655655;NT GT ./. 1 32655851 . G . . NT END=32657911;NT GT ./. 1 32658032 . G . . NT END=32658257;NT GT ./. 1 32658062 rs79952364 G GGT 172 nt VT=INS;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.1715,GGT/0.8285;DB;DBA=NA;PAF=G/0.1715,GGT/0.8285,GT/.;NP=1;NP=2758;Gene=TXLNA/NM_175852.3/1;CC=c.1083+33_1083+34dupTG;VC=Intron;DM=TXLNA/Taxilin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GGT:134:73:59:0:1,73,1,59:12,2167,30,1832:-0.11,0.00,1.12,171.99:-0.08,0.00,1.26,65.63:-0.02,0.00,-0.14,106.36:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:115.0,36.2,57.0,5.4:0,2,0,0:0,0,0,0:22,107,5,91:129,41,146,55:0,27,0,28:-,NM_175852.3(TXLNA) c.1083+31_1083+32insGT:-,NOT_FOUND:-,0.712893 1 32658333 . G . . NT END=32658808;NT GT ./. 1 32658902 . G . . NT END=32659665;NT GT ./. 1 32659762 . G . . NT END=32660502;NT GT ./. 1 32660797 . A . . NT END=32667536;NT GT ./. 1 32667701 . G . . NT END=32669479;NT GT ./. 1 32669647 . G . . NT END=32669786;NT GT ./. 1 32669981 . G . . NT END=32670198;NT GT ./. 1 32670222 . G . . NT END=32670794;NT GT ./. 1 32670850 . G . . NT END=32671282;NT GT ./. 1 32671565 . G . . NT END=32671754;NT GT ./. 1 32671899 . G . . NT END=32672109;NT GT ./. 1 32672363 . G . . NT END=32672602;NT GT ./. 1 32672722 . G . . NT END=32672840;NT GT ./. 1 32673684 . A . . NT END=32674694;NT GT ./. 1 32674961 . G . . NT END=32676872;NT GT ./. 1 32676925 . G . . NT END=32677361;NT GT ./. 1 32677439 . G . . NT END=32677670;NT GT ./. 1 32677803 . G . . NT END=32678090;NT GT ./. 1 32678238 . G . . NT END=32678354;NT GT ./. 1 32678395 . G . . NT END=32680397;NT GT ./. 1 32680534 . G . . NT END=32681040;NT GT ./. 1 32680711 . TA T 10 rn VT=DEL;SST=Single;DP=11;NP=1;PC=0.004;Gene=DCDC2B/NM_001099434.1/1;CC=c.850+191delA;VC=Intron;Gene=TMEM234/NR_133635/0;VC=NonCoding;Gene=TMEM234/NR_133636/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:TA,T:10:0:0:5:6,4:174,148:0.00,10.37:0.00,0.00:0.00,10.37:0.00,0.82:0.00,0.00:0.00,0.82:70,60:40.0,80.8:0,1:0,0:114,86:33,63:9,38:-,NM_001099434.1(DCDC2B) c.850+179delA:-,NOT_FOUND:-,NOT_FOUND 1 32680948 rs144910030 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9986,G/0.001398;NP=13;Gene=DCDC2B/NM_001099434.1/1;CC=c.851-93A>G;VC=Intron;Gene=TMEM234/NR_133635/0;VC=NonCoding;Gene=TMEM234/NR_133636/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,G:14:13:0:0:10,4:259,119:0.00,10.19:0.00,10.34:0.00,-0.15:0.00,0.77:0.00,0.97:0.00,0.52:60,60:28.1,46.8:0,0:0,0:91,54:59,96:28,37:-,NM_001099434.1(DCDC2B) c.851-93A>G:-,0.0018:-,NOT_FOUND 1 32681069 rs11590012 C A 32 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.9942,A/0.005791;Gene=DCDC2B/NM_001099434.1/1;CC=c.879C>A;ProtCh=p.H293Q;VC=Missense;Gene=TMEM234/NR_133635/0;VC=NonCoding;Gene=TMEM234/NR_133636/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:45:40:0:0:12,33:373,1075:31.70,0.00:20.38,0.00:11.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.2,4.8:0,0:0,0:68,76:80,67:21,26:NM_001099434.1(DCDC2B) c.879C>A (p.His293Gln),-:0.01,-:0.007126,- 1 32681070 rs11590013 C A 31 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.9942,A/0.005791,T/.;NP=81;PC=0.001;Gene=DCDC2B/NM_001099434.1/1;CC=c.880C>A;ProtCh=p.R294=;VC=Silent;Gene=TMEM234/NR_133635/0;VC=NonCoding;Gene=TMEM234/NR_133636/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:45:40:0:0:12,33:368,1005:31.20,0.00:19.08,0.00:12.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.9,4.8:0,0:0,0:65,77:83,66:21,26:NM_001099434.1(DCDC2B) c.880C>A (p.(=)),-:0.01,-:0.007207,- 1 32681145 . G . . NT END=32681402;NT GT ./. 1 32681499 . G . . NT END=32682010;NT GT ./. 1 32682953 . C . . NT END=32686731;NT GT ./. 1 32686799 . C . . NT END=32687467;NT GT ./. 1 32687620 . C . . NT END=32687907;NT GT ./. 1 32687924 . G . . NT END=32688042;NT GT ./. 1 32688046 . G . . NT END=32688138;NT GT ./. 1 32688232 . G . . NT END=32689634;NT GT ./. 1 32689723 . G . . NT END=32690010;NT GT ./. 1 32690077 . G . . NT END=32691771;NT GT ./. 1 32690291 rs1299547 G T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003;Gene=EIF3I/NM_003757.2/1;CC=c.250+215G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:150:17.36:0.00:17.36:1.00:0.00:1.00:70:56.0:0:0:100:51:2:NM_003757.2(EIF3I) c.250+215G>T,NM_003757.2(EIF3I) c.250+215G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 32691922 . G . . NT END=32692003;NT GT ./. 1 32692132 . G . . NT END=32694099;NT GT ./. 1 32692168 rs545358642 AT A 24 idl,rn VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=AT/0.5611,A/0.4389;DB;DBA=NA;PAF=AT/0.5611,A/0.4389;NP=46;PC=0.002;Gene=EIF3I/NM_003757.2/1;CC=c.528+54delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:AT,C,I,A:72:36:7:11:55,1,6,10:1698,11,226,338:0.00,-0.17,13.61,23.62:0.00,-0.11,6.18,4.87:0.00,-0.06,7.43,18.76:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:16.1,33.0,4.2,16.5:0,0,1,1:0,0,0,0:109,45,102,87:34,106,47,63:20,0,9,28:-,NM_003757.2(EIF3I) c.528+38delT:-,NOT_FOUND:-,NOT_FOUND 1 32694211 . G . . NT END=32694327;NT GT ./. 1 32694418 . G . . NT END=32694735;NT GT ./. 1 32694810 . G . . NT END=32696527;NT GT ./. 1 32696621 . G . . NT END=32696715;NT GT ./. 1 32696798 . G . . NT END=32713022;NT GT ./. 1 32713284 . G . . NT END=32713971;NT GT ./. 1 32714203 . G . . NT END=32739798;NT GT ./. 1 32740036 . G . . NT END=32740337;NT GT ./. 1 32740685 . G . . NT END=32740921;NT GT ./. 1 32741021 . G . . NT END=32741169;NT GT ./. 1 32741274 . G . . NT END=32741514;NT GT ./. 1 32741665 . G . . NT END=32741937;NT GT ./. 1 32742091 . G . . NT END=32742207;NT GT ./. 1 32742388 . G . . NT END=32745181;NT GT ./. 1 32745349 . G . . NT END=32745441;NT GT ./. 1 32745596 . G . . NT END=32745679;NT GT ./. 1 32745812 . G . . NT END=32751114;NT GT ./. 1 32751318 . G . . NT END=32757770;NT GT ./. 1 32757820 . G . . NT END=32757880;NT GT ./. 1 32758039 . G . . NT END=32768221;NT GT ./. 1 32768335 . G . . NT END=32782265;NT GT ./. 1 32782384 . G . . NT END=32790079;NT GT ./. 1 32790155 . G . . NT END=32792539;NT GT ./. 1 32792679 . G . . NT END=32793136;NT GT ./. 1 32793279 . G . . NT END=32794668;NT GT ./. 1 32794762 . G . . NT END=32796178;NT GT ./. 1 32796288 . G . . NT END=32796368;NT GT ./. 1 32796510 . G . . NT END=32797074;NT GT ./. 1 32797184 . G . . NT END=32797276;NT GT ./. 1 32797408 . G . . NT END=32797690;NT GT ./. 1 32797844 . G . . NT END=32798301;NT GT ./. 1 32798351 . G . . NT END=32798617;NT GT ./. 1 32798646 . A . . NT END=32800197;NT GT ./. 1 32800699 . C . . NT END=32801547;NT GT ./. 1 32801635 . G . . NT END=32827033;NT GT ./. 1 32801724 . T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;PC=1.000;Gene=MARCKSL1/NM_023009.6/1;CC=c.-90A>C;VC=5UTR;Gene=MARCKSL1/NR_052852.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:G,T:16:2:0:0:5,11:86,293:6.65,0.00:-0.24,0.00:6.90,0.00:0.88,0.00:0.61,0.00:0.99,0.00:60,60:87.8,38.2:0,0:0,0:40,128:99,22:8,20:NM_023009.6(MARCKSL1) c.-90A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 32808883 rs4011998 GAC G 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GAC/0.3121,G/0.6879;DB;DBA=NA;PAF=GAC/0.3121,G/0.6879;DB;DBA=NA;PAF=GAC/0.3121,G/0.6879;NP=154;PC=0.217;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GAC,G:5:3:0:5:1,4:35,130:0.00,13.82:0.00,11.34:0.00,2.48:0.00,0.96:0.00,0.99:0.00,0.97:27,60:0.0,8.5:0,0:0,0:107,88:41,63:0,3:-,NM_023009.6(MARCKSL1) c.-206-u7045_-206-u7044delGT:-,NOT_FOUND:-,NOT_FOUND 1 32827137 . C . . NT END=32827330;NT GT ./. 1 32827478 . C . . NT END=32827558;NT GT ./. 1 32827693 . T . . NT END=32828302;NT GT ./. 1 32828448 . G . . NT END=32829195;NT GT ./. 1 32829858 . T . . NT END=32832222;NT GT ./. 1 32833291 . g . . NT END=32833496;NT GT ./. 1 32833633 . CT C 23 idl,rn VT=DEL;SST=Single;DP=92;NP=4;PC=0.001;Gene=BSDC1/NM_001143888.2/0;CC=c.1311+414delA;VC=Intron;Gene=BSDC1/NM_001143889.2/0;CC=c.1092+414delA;VC=Intron;Gene=BSDC1/NM_001143890.2/0;CC=c.975+414delA;VC=Intron;Gene=BSDC1/NM_001300958.1/0;CC=c.*300delA;VC=3UTR;Gene=BSDC1/NM_018045.7/1;CC=c.1260+414delA;VC=Intron;Gene=BSDC1/NR_125352.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:CT,T,I,C:83:53:10:17:64,1,8,10:1927,10,328,540:0.00,-0.20,19.02,23.06:0.00,-0.14,12.22,11.26:0.00,-0.06,6.80,11.80:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:60,60,60,60:21.9,92.0,26.0,16.9:1,0,2,7:0,0,0,0:102,38,87,87:40,100,41,64:30,0,28,25:-,NM_001143888.1(BSDC1) c.1311+414delA:-,NOT_FOUND:-,NOT_FOUND 1 32834152 . C . . NT END=32834830;NT GT ./. 1 32834940 . c . . NT END=32841862;NT GT ./. 1 32842343 . C . . NT END=32843570;NT GT ./. 1 32843650 . C . . NT END=32843815;NT GT ./. 1 32843885 . C . . NT END=32844324;NT GT ./. 1 32844441 . C . . NT END=32846814;NT GT ./. 1 32846606 rs149692166 C G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9958,G/0.004193;NP=17;Gene=BSDC1/NM_001143888.2/0;CC=c.463+209G>C;VC=Intron;Gene=BSDC1/NM_001143889.2/0;CC=c.244+209G>C;VC=Intron;Gene=BSDC1/NM_001143890.2/0;CC=c.127+209G>C;VC=Intron;Gene=BSDC1/NM_001300958.1/0;CC=c.463+209G>C;VC=Intron;Gene=BSDC1/NM_018045.7/1;CC=c.412+209G>C;VC=Intron;Gene=BSDC1/NR_125352.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G:6:6:0:0:1,5:34,149:0.00,16.08:0.00,16.08:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,56.2:0,0:0,0:100,62:51,88:0,35:-,NM_001143888.1(BSDC1) c.463+209G>C:-,0.01:-,NOT_FOUND 1 32846870 . C . . NT END=32849430;NT GT ./. 1 32849650 . C . . NT END=32852379;NT GT ./. 1 32852497 . C . . NT END=32859680;NT GT ./. 1 32859742 . C . . NT END=32860004;NT GT ./. 1 32859850 rs183641644 C T 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.9956,T/0.004393;NP=71;PC=0.003;Gene=BSDC1/NM_001143888.2/0;CC=c.12-109G>A;VC=Intron;Gene=BSDC1/NM_001143889.2/0;CC=c.12-109G>A;VC=Intron;Gene=BSDC1/NM_001143890.2/0;CC=c.12-109G>A;VC=Intron;Gene=BSDC1/NM_001300958.1/0;CC=c.12-109G>A;VC=Intron;Gene=BSDC1/NM_018045.7/1;CC=c.12-109G>A;VC=Intron;Gene=BSDC1/NR_125352.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:28:0:0:20,29:593,949:0.00,94.32:0.00,53.00:0.00,41.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,44.2:0,0:0,0:98,94:52,57:38,40:-,NM_001143888.1(BSDC1) c.12-109G>A:-,0.01:-,NOT_FOUND 1 32860016 . C . . NT END=32936225;NT GT ./. 1 32860161 rs547329 T C 77 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.02975,C/0.9702;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:1:0:0:21:673:77.31:1.84:75.48:1.00:1.00:1.00:60:33.4:0:0:127:24:15:NM_001143888.1(BSDC1) c.-47-u99A>G,NM_001143888.1(BSDC1) c.-47-u99A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 32889223 rs10493051 G A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9503,A/0.04972;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:5:0:0:0:3,2:93,70:9.27,0.00:0.00,0.00:9.27,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:35.3,0.0:0,0:0,0:117,95:34,55:6,14:chr1 g.32889222G>A (intergenic),-:0.06,-:NOT_FOUND,- 1 32892425 rs1856348 G A,C 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.03015,C/0.9698;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C:4:0:0:0:1,3:9,75:0.78,8.50:0.00,0.00:0.78,8.50:0.00,0.85:0.00,0.00:0.00,0.85:60,60:134.0,37.7:0,0:0,0:62,125:81,26:0,4:chr1 g.32892424G>A (intergenic),chr1 g.32892424G>C (intergenic):NOT_FOUND,0.98:NOT_FOUND,NOT_FOUND 1 32936100 rs397767700 C CA 31 idl,rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.025;Gene=ZBTB8B/NM_001145720.1/1;CC=c.-41-58_-41-57insA;VC=Intron;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:26:33:15:8:11,10,5:322,496,255:0.00,30.80,12.87:0.00,30.95,12.94:0.00,-0.15,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.53,0.00:60,60,60:12.0,54.9,45.6:0,5,3:0,0,0:101,50,53:28,101,97:37,38,23:-,NM_001145720.1(ZBTB8B) c.-41-85_-41-84insA:-,NOT_FOUND:-,NOT_FOUND 1 32937217 . G . . NT END=32946491;NT GT ./. 1 32946671 . G . . NT END=32950701;NT GT ./. 1 32951020 . C . . NT END=33058532;NT GT ./. 1 33059356 . G . . NT END=33060654;NT GT ./. 1 33060825 . G . . NT END=33065687;NT GT ./. 1 33060834 rs11327743 AT A 123 rn VT=DEL;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=657;PC=0.003;Gene=ZBTB8A/NM_001040441.2/1;CC=c.993+18delT;VC=Intron;Gene=ZBTB8A/NM_001291496.1/0;CC=c.993+18delT;VC=Intron;Gene=ZBTB8A/NR_111980.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:83:34:0:41:42,41:1352,1285:0.00,123.08:0.00,25.69:0.00,97.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,8.3:0,0:0,0:99,96:48,48:24,24:-,NM_001040441.1(ZBTB8A) c.993+11delT:-,NOT_FOUND:-,0.129553 1 33065484 rs704887 G A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6294,A/0.3706;PC=0.001;Gene=ZBTB8A/NM_001040441.2/1;CC=c.994-204G>A;VC=Intron;Gene=ZBTB8A/NM_001291496.1/0;CC=c.994-385G>A;VC=Intron;Gene=ZBTB8A/NR_111980.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:6:6:0:0:3,3:99,68:9.54,0.00:9.54,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.0,17.0:0,0:0,0:37,78:114,73:3,10:NM_001040441.1(ZBTB8A) c.994-204G>A,-:0.37,-:NOT_FOUND,- 1 33065947 rs704886 G C 322 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=0.743;Gene=ZBTB8A/NM_001040441.2/1;CC=c.1253G>C;ProtCh=p.G418A;VC=Missense;Gene=ZBTB8A/NM_001291496.1/0;CC=c.*49G>C;VC=3UTR;Gene=ZBTB8A/NR_111980.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:84:42:0:0:83,1:2828,11:321.90,0.15:122.30,0.00:199.60,0.15:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,60.0:0,0:0,0:81,36:61,106:33,0:NM_001040441.1(ZBTB8A) c.1253G>C (p.Gly418Ala),NM_001040441.1(ZBTB8A) c.1253G>C (p.Gly418Ala):1,1:0.999923,0.999923 1 33066021 . C . . NT END=33087462;NT GT ./. 1 33087550 . C . . NT END=33093108;NT GT ./. 1 33087567 rs556312727 GA G 12 idl,rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=2;PC=0.847;Gene=ZBTB8OS/NM_001308135.1/0;CC=c.433-19delT;VC=Intron;Gene=ZBTB8OS/NM_001308136.1/0;CC=c.401-19delT;VC=Intron;Gene=ZBTB8OS/NM_001308137.1/0;CC=c.380-19delT;VC=Intron;Gene=ZBTB8OS/NM_001308138.1/0;CC=c.247-19delT;VC=Intron;Gene=ZBTB8OS/NM_001308139.1/0;CC=c.247-19delT;VC=Intron;Gene=ZBTB8OS/NM_001308140.1/0;CC=c.247-19delT;VC=Intron;Gene=ZBTB8OS/NM_001308141.1/0;CC=c.247-19delT;VC=Intron;Gene=ZBTB8OS/NM_178547.3/1;CC=c.454-19delT;VC=Intron;DM=ZBTB8OS/Archease;DM=ZBTB8OS/Archease;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,GA,I,G:23:16:2:9:2,14,2,5:18,433,57,207:0.32,0.00,3.96,11.54:-0.29,0.00,4.18,3.64:0.61,0.00,-0.22,7.90:0.00,0.00,0.00,0.83:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.94:60,60,60,60:23.0,21.0,5.5,42.8:1,0,0,2:0,0,0,0:36,86,110,74:106,52,39,63:10,28,18,15:-,NM_178547.2(ZBTB8OS) c.454-19delT:-,NOT_FOUND:-,NOT_FOUND 1 33093146 . C . . NT END=33097427;NT GT ./. 1 33097481 . C . . NT END=33099245;NT GT ./. 1 33099329 . C . . NT END=33099551;NT GT ./. 1 33099674 . C . . NT END=33100302;NT GT ./. 1 33100394 . C . . NT END=33116029;NT GT ./. 1 33116167 . C . . NT END=33116907;NT GT ./. 1 33116544 rs389409 C T 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2192,T/0.7808;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:3:0:0:7:242:27.54:11.83:15.71:1.00:1.00:1.00:60:60.3:0:0:51:100:43:NM_005610.2(RBBP4) c.-159-u205C>T,NM_005610.2(RBBP4) c.-159-u205C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 33116623 rs704874 T G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.2192,G/0.7808;PC=0.664 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C,G,T:12:10:0:0:1,10,1:11,283,10:0.54,31.42,0.00:0.58,28.53,0.00:-0.04,2.89,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:139.0,60.3,64.0:0,0,0:0,0,0:74,62,88:77,76,53:0,40,0:NM_005610.2(RBBP4) c.-159-u126T>G,NM_005610.2(RBBP4) c.-159-u126T>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 33116924 . G . . NT END=33116958;NT GT ./. 1 33117034 . G . . NT END=33117514;NT GT ./. 1 33117071 rs583114 T G 262 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.03474,G/0.9653;PC=0.809;Gene=RBBP4/NM_001135255.1/0;CC=c.16+148T>G;VC=Intron;Gene=RBBP4/NM_005610.2/1;CC=c.16+148T>G;VC=Intron;Gene=RBBP4/NM_001135256.1/0;CC=c.-90+38T>G;VC=Intron;DM=RBBP4/CAF1C_H4-bd;DM=RBBP4/CAF1C_H4-bd;DM=RBBP4/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:74:20:0:0:74:2269:262.05:44.25:217.80:1.00:1.00:1.00:60:39.4:0:0:105:42:25:NM_005610.2(RBBP4) c.16+148T>G,NM_005610.2(RBBP4) c.16+148T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 33117231 rs664567 G A 58 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.03474,A/0.9653;Gene=RBBP4/NM_001135255.1/0;CC=c.17-287G>A;VC=Intron;Gene=RBBP4/NM_005610.2/1;CC=c.17-284G>A;VC=Intron;Gene=RBBP4/NM_001135256.1/0;CC=c.-90+198G>A;VC=Intron;DM=RBBP4/CAF1C_H4-bd;DM=RBBP4/CAF1C_H4-bd;DM=RBBP4/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A,T:19:5:0:0:18,1:502,8:58.21,0.25:18.87,0.00:39.35,0.25:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,100.0:0,0:0,0:74,135:77,16:44,0:NM_005610.2(RBBP4) c.17-284G>A,NM_005610.2(RBBP4) c.17-284G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 33117663 . G . . NT END=33123027;NT GT ./. 1 33123174 . G . . NT END=33133825;NT GT ./. 1 33133968 rs2762904 T C 125 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.03215,C/0.9679;PC=0.739;Gene=RBBP4/NM_001135255.1/0;CC=c.450T>C;ProtCh=p.V150=;VC=Silent;Gene=RBBP4/NM_005610.2/1;CC=c.453T>C;ProtCh=p.V151=;VC=Silent;Gene=RBBP4/NM_001135256.1/0;CC=c.348T>C;ProtCh=p.V116=;VC=Silent;DM=RBBP4/WD40;DM=RBBP4/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:15:0:0:32:1100:125.26:37.58:87.68:1.00:1.00:1.00:60:42.3:0:0:99:48:25:NM_005610.2(RBBP4) c.453T>C (p.(=)),NM_005610.2(RBBP4) c.453T>C (p.(=)):0.98,0.98:0.96986,0.96986 1 33134000 . G . . NT END=33134339;NT GT ./. 1 33134456 . G . . NT END=33134572;NT GT ./. 1 33134734 . G . . NT END=33134831;NT GT ./. 1 33134774 rs359955 A C 230 nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.4058,C/0.5942,T/.;Gene=RBBP4/NM_001135255.1/0;CC=c.758+41A>C;VC=Intron;Gene=RBBP4/NM_005610.2/1;CC=c.761+41A>C;VC=Intron;Gene=RBBP4/NM_001135256.1/0;CC=c.656+41A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:C:64:43:0:0:64:2000:230.37:121.59:108.78:1.00:1.00:1.00:60:37.9:0:0:80:68:39:NM_005610.2(RBBP4) c.761+41A>C,NM_005610.2(RBBP4) c.761+41A>C:0.63,0.63:0.606105,0.606105 1 33134959 . G . . NT END=33135086;NT GT ./. 1 33134989 rs359956 A G 166 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.219,G/0.781;Gene=RBBP4/NM_001135255.1/0;CC=c.885+31A>G;VC=Intron;Gene=RBBP4/NM_005610.2/1;CC=c.888+31A>G;VC=Intron;Gene=RBBP4/NM_001135256.1/0;CC=c.783+31A>G;VC=Intron;DM=RBBP4/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:13:0:0:45:1442:165.52:42.97:122.55:1.00:1.00:1.00:60:40.8:0:0:95:56:32:NM_005610.2(RBBP4) c.888+31A>G,NM_005610.2(RBBP4) c.888+31A>G:0.81,0.81:0.830942,0.830942 1 33135165 . G . . NT END=33138050;NT GT ./. 1 33137928 rs2762905 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.219,G/0.781;PC=0.002;Gene=RBBP4/NM_001135255.1/0;CC=c.964-123A>G;VC=Intron;Gene=RBBP4/NM_005610.2/1;CC=c.967-123A>G;VC=Intron;Gene=RBBP4/NM_001135256.1/0;CC=c.862-123A>G;VC=Intron;DM=RBBP4/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:240:27.34:27.34:0.00:1.00:1.00:0.00:60:54.1:0:0:41:109:25:NM_005610.2(RBBP4) c.967-123A>G,NM_005610.2(RBBP4) c.967-123A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 33138128 . G . . NT END=33138242;NT GT ./. 1 33138301 . G . . NT END=33138391;NT GT ./. 1 33138503 . G . . NT END=33145240;NT GT ./. 1 33138516 rs607202 A C 112 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.03195,C/0.9681;Gene=RBBP4/NM_001135255.1/0;CC=c.1209+14A>C;VC=Intron;Gene=RBBP4/NM_005610.2/1;CC=c.1212+14A>C;VC=Intron;Gene=RBBP4/NM_001135256.1/0;CC=c.1107+14A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C,T:31:11:0:0:30,1:978,8:111.63,0.17:27.49,0.00:84.14,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,186.0:0,0:0,0:96,41:50,110:27,0:NM_005610.2(RBBP4) c.1212+14A>C,NM_005610.2(RBBP4) c.1212+14A>C:0.98,0.98:0.970168,0.970168 1 33138605 rs1320511 T C 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1693,C/0.8307;PC=0.012;Gene=RBBP4/NM_001135255.1/0;CC=c.1209+103T>C;VC=Intron;Gene=RBBP4/NM_005610.2/1;CC=c.1212+103T>C;VC=Intron;Gene=RBBP4/NM_001135256.1/0;CC=c.1107+103T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:286:33.33:0.00:33.33:1.00:0.00:1.00:60:67.8:0:0:129:21:13:NM_005610.2(RBBP4) c.1212+103T>C,NM_005610.2(RBBP4) c.1212+103T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 33145742 rs9851 A G 176 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.4065,G/0.5935;Gene=RBBP4/NM_001135255.1/0;CC=c.*436A>G;VC=3UTR;Gene=RBBP4/NM_005610.2/1;CC=c.*436A>G;VC=3UTR;Gene=RBBP4/NM_001135256.1/0;CC=c.*436A>G;VC=3UTR;Gene=SYNC/NM_001161708.1/0;CC=c.*1647T>C;VC=3UTR;Gene=SYNC/NM_030786.2/1;CC=c.*1709T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G:51:33:0:0:51:1520:175.92:99.46:76.45:1.00:1.00:1.00:60:44.6:0:0:64:78:28:NM_005610.2(RBBP4) c.*436A>G,NM_005610.2(RBBP4) c.*436A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 33145939 . G GT 19 idl,rn VT=INS;SST=Single;DP=61;NP=1;PC=0.965;Gene=RBBP4/NM_001135255.1/0;CC=c.*644_*645insT;VC=3UTR;Gene=RBBP4/NM_005610.2/1;CC=c.*644_*645insT;VC=3UTR;Gene=RBBP4/NM_001135256.1/0;CC=c.*644_*645insT;VC=3UTR;Gene=SYNC/NM_001161708.1/0;CC=c.*1449_*1450insA;VC=3UTR;Gene=SYNC/NM_030786.2/1;CC=c.*1511_*1512insA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:G,T,GT,D:61:35:9:4:43,5,9,4:1259,103,252,115:0.00,5.89,19.06,7.43:0.00,-0.78,11.98,5.33:0.00,6.67,7.08,2.11:0.00,0.00,0.98,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.99,0.00:60,60,60,60:49.4,39.6,34.6,55.5:1,2,0,0:0,0,0,0:59,35,68,70:77,115,55,77:31,13,26,19:-,NM_005610.2(RBBP4) c.*644dupT:-,NOT_FOUND:-,NOT_FOUND 1 33145958 . G GT 33 idl,rn VT=INS;SST=Single;DP=78;NP=2;Gene=RBBP4/NM_001135255.1/0;CC=c.*671_*672insT;VC=3UTR;Gene=RBBP4/NM_005610.2/1;CC=c.*671_*672insT;VC=3UTR;Gene=RBBP4/NM_001135256.1/0;CC=c.*671_*672insT;VC=3UTR;Gene=SYNC/NM_001161708.1/0;CC=c.*1430_*1431insA;VC=3UTR;Gene=SYNC/NM_030786.2/1;CC=c.*1492_*1493insA;VC=3UTR;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G,GT,D:72:52:14:14:1,49,13,9:10,1390,439,401:-0.15,0.00,32.94,17.99:-0.15,0.00,12.47,3.83:-0.00,0.00,20.47,14.15:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:51.0,40.8,39.1,101.2:0,0,1,5:0,0,0,0:27,67,64,44:116,67,86,98:0,32,27,16:-,NM_005610.2(RBBP4) c.*671dupT:-,NOT_FOUND:-,NOT_FOUND 1 33146113 rs540200924 C CT 21 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=1;PC=0.065;Gene=RBBP4/NM_001135255.1/0;CC=c.*818dupT;VC=3UTR;Gene=RBBP4/NM_005610.2/1;CC=c.*818dupT;VC=3UTR;Gene=RBBP4/NM_001135256.1/0;CC=c.*818dupT;VC=3UTR;Gene=SYNC/NM_001161708.1/0;CC=c.*1275dupA;VC=3UTR;Gene=SYNC/NM_030786.2/1;CC=c.*1337dupA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,CT,D:59:30:8:4:47,8,4:1588,266,120:0.00,20.50,7.81:0.00,12.16,6.56:0.00,8.34,1.25:0.00,0.95,0.00:0.00,0.96,0.00:0.00,0.99,0.00:60,60,60:2.4,0.0,20.2:0,0,0:0,0,0:91,123,48:59,27,102:44,1,14:-,NM_005610.2(RBBP4) c.*818dupT:-,NOT_FOUND:-,NOT_FOUND 1 33146148 . T . . NT END=33147388;NT GT ./. 1 33147143 rs360510 C T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03195,T/0.9681;PC=0.003;Gene=RBBP4/NM_001135255.1/0;CC=c.*1837C>T;VC=3UTR;Gene=RBBP4/NM_005610.2/1;CC=c.*1837C>T;VC=3UTR;Gene=RBBP4/NM_001135256.1/0;CC=c.*1837C>T;VC=3UTR;Gene=SYNC/NM_001161708.1/0;CC=c.*246G>A;VC=3UTR;Gene=SYNC/NM_030786.2/1;CC=c.*308G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:128:14.71:14.71:0.00:1.00:1.00:0.00:60:42.5:0:0:34:116:25:NM_005610.2(RBBP4) c.*1837C>T,NM_005610.2(RBBP4) c.*1837C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 33147462 . C . . NT END=33149610;NT GT ./. 1 33149691 . C . . NT END=33149858;NT GT ./. 1 33149984 . C . . NT END=33160465;NT GT ./. 1 33160878 rs360042 C T 698 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=C/0.1374,T/0.8626;PC=0.492;Gene=SYNC/NM_001161708.1/0;CC=c.821G>A;ProtCh=p.R274Q;VC=Missense;Gene=SYNC/NM_030786.2/1;CC=c.821G>A;ProtCh=p.R274Q;VC=Missense;DM=SYNC/Filament GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:185:118:0:0:1,184:10,6109:0.05,698.03:0.05,349.22:0.00,348.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,39.8:0,0:0,0:55,78:96,65:0,36:NM_030786.2(SYNC) c.821G>A (p.Arg274Gln),NM_030786.2(SYNC) c.821G>A (p.Arg274Gln):0.89,0.89:0.911958,0.911958 1 33161212 rs360041 T C 540 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=T/0.1374,C/0.8626;Gene=SYNC/NM_001161708.1/0;CC=c.487A>G;ProtCh=p.M163V;VC=Missense;Gene=SYNC/NM_030786.2/1;CC=c.487A>G;ProtCh=p.M163V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:152:103:0:0:152:4680:539.71:290.49:249.22:1.00:1.00:1.00:60:40.5:0:0:96:52:30:NM_030786.2(SYNC) c.=,NM_030786.2(SYNC) c.=:0.89,0.89:0.91152,0.91152 1 33161646 . C . . NT END=33168208;NT GT ./. 1 33161806 rs360040 C T 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1376,T/0.8624;Gene=SYNC/NM_001161708.1/0;CC=c.54-161G>A;VC=Intron;Gene=SYNC/NM_030786.2/1;CC=c.54-161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:283:33.00:0.00:33.00:1.00:0.00:1.00:60:36.0:0:0:84:67:26:NM_030786.2(SYNC) c.54-161G>A,NM_030786.2(SYNC) c.54-161G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 33168262 . G . . NT END=33207555;NT GT ./. 1 33207791 . G . . NT END=33231234;NT GT ./. 1 33208101 rs360516 G C 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.02476,C/0.9752;PC=0.001;Gene=KIAA1522/NM_020888.2/1;CC=c.235+311G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:153:17.66:0.00:17.66:1.00:0.00:1.00:60:61.6:0:0:96:50:36:NM_020888.2(KIAA1522) c.235+311G>C,NM_020888.2(KIAA1522) c.235+311G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 33231380 rs6694085 T G 174 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.8586,G/0.1414;PC=1.000;Gene=KIAA1522/NM_020888.2/1;CC=c.236-2008T>G;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.10T>G;ProtCh=p.F4V;VC=Missense;Gene=KIAA1522/NM_001198973.1/0;CC=c.10T>G;ProtCh=p.F4V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:125:83:0:0:56,69:1843,2148:173.67,0.00:84.63,0.00:89.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.8,8.5:0,0:0,0:79,75:69,66:33,32:NM_020888.2(KIAA1522) c.236-2008T>G,-:0.15,-:NOT_FOUND,- 1 33231403 rs6702519 G T 141 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.8586,T/0.1414;PC=0.527;Gene=KIAA1522/NM_020888.2/1;CC=c.236-1985G>T;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.33G>T;ProtCh=p.A11=;VC=Silent;Gene=KIAA1522/NM_001198973.1/0;CC=c.33G>T;ProtCh=p.A11=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:112:73:0:0:1,64,47:10,2033,1513:-0.16,0.00,140.88:-0.10,0.00,74.13:-0.06,0.00,66.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:87.0,8.0,72.1:0,0,0:0,0,0:55,90,96:96,55,54:0,30,27:-,NM_020888.2(KIAA1522) c.236-1985G>T:-,0.14:-,NOT_FOUND 1 33231429 . G . . NT END=33233387;NT GT ./. 1 33231694 rs60579048 T G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8584,G/0.1416;PC=0.001;Gene=KIAA1522/NM_020888.2/1;CC=c.236-1694T>G;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.58+266T>G;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.58+266T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:5:0:0:0:4,1:121,33:12.92,0.00:0.00,0.00:12.92,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:66.8,0.0:0,0:0,0:62,130:82,19:23,0:NM_020888.2(KIAA1522) c.236-1694T>G,-:0.14,-:NOT_FOUND,- 1 33233223 rs4951771 C T 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3315,T/0.6685;Gene=KIAA1522/NM_020888.2/1;CC=c.236-165C>T;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.59-165C>T;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.59-165C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:7:7:0:0:3,4:98,126:0.00,12.43:0.00,12.43:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:39.0,90.5:0,0:0,0:25,67:123,83:23,26:-,NM_020888.2(KIAA1522) c.236-165C>T:-,0.67:-,NOT_FOUND 1 33233237 rs360524 G A 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3327,A/0.6673;PC=0.002;Gene=KIAA1522/NM_020888.2/1;CC=c.236-151G>A;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.59-151G>A;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.59-151G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:7:7:0:0:4,3:126,99:12.43,0.00:12.43,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:90.5,39.0:0,0:0,0:81,39:69,109:26,23:NM_020888.2(KIAA1522) c.236-151G>A,-:0.67,-:NOT_FOUND,- 1 33233323 rs360523 A G 99 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.01737,G/0.9826;PC=0.011;Gene=KIAA1522/NM_020888.2/1;CC=c.236-65A>G;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.59-65A>G;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.59-65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:27:0:0:28:855:98.76:85.39:13.37:1.00:1.00:1.00:60:51.4:0:0:41:103:24:NM_020888.2(KIAA1522) c.236-65A>G,NM_020888.2(KIAA1522) c.236-65A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33233559 . G . . NT END=33233662;NT GT ./. 1 33233589 . C G 132 nt VT=SNV;PN=T;NN=C;SST=Single;DP=87;PC=0.001;Gene=KIAA1522/NM_020888.2/1;CC=c.406+31C>G;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.229+31C>G;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.229+31C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:87:57:0:0:46,41:1469,1390:0.00,132.44:0.00,72.76:0.00,59.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,38.2:0,0:0,0:88,68:61,80:37,40:-,NM_020888.2(KIAA1522) c.406+31C>G:-,NOT_FOUND:-,NOT_FOUND 1 33233719 . G . . NT END=33234252;NT GT ./. 1 33234128 rs3737992 G A 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.8588,A/0.1412;Gene=KIAA1522/NM_020888.2/1;CC=c.463-125G>A;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.286-125G>A;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.286-125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:33:0:0:14,20:429,597:39.56,0.00:30.23,0.00:9.33,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:67.0,72.2:0,0:0,0:24,48:127,102:18,32:NM_020888.2(KIAA1522) c.463-125G>A,-:0.14,-:NOT_FOUND,- 1 33234136 rs360522 T C 139 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.02157,C/0.9784;Gene=KIAA1522/NM_020888.2/1;CC=c.463-117T>C;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.286-117T>C;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.286-117T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:36:0:0:37:1211:138.61:115.85:22.76:1.00:1.00:1.00:60:70.8:0:0:55:95:31:NM_020888.2(KIAA1522) c.463-117T>C,NM_020888.2(KIAA1522) c.463-117T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33234153 rs3737993 G A 85 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.4301,A/0.5699;PC=0.001;Gene=KIAA1522/NM_020888.2/1;CC=c.463-100G>A;VC=Intron;Gene=KIAA1522/NM_001198972.1/0;CC=c.286-100G>A;VC=Intron;Gene=KIAA1522/NM_001198973.1/0;CC=c.286-100G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:43:0:0:26,19:864,594:85.50,0.00:68.82,0.00:16.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.3,55.8:0,0:0,0:41,32:109,119:32,13:NM_020888.2(KIAA1522) c.463-100G>A,-:0.58,-:NOT_FOUND,- 1 33234377 . G . . NT END=33235273;NT GT ./. 1 33235388 . G . . NT END=33235480;NT GT ./. 1 33235626 rs3737995 G A 265 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=G/0.6921,A/0.3079,C/.;Gene=KIAA1522/NM_020888.2/1;CC=c.846G>A;ProtCh=p.A282=;VC=Silent;Gene=KIAA1522/NM_001198972.1/0;CC=c.669G>A;ProtCh=p.A223=;VC=Silent;Gene=KIAA1522/NM_001198973.1/0;CC=c.409+1250G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:174:122:0:0:83,91:2774,2728:264.84,0.00:123.26,0.00:141.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,5.4:0,0:0,0:71,76:70,73:26,26:NM_020888.2(KIAA1522) c.846G>A (p.(=)),-:0.32,-:0.271424,- 1 33238043 . G . . NT END=33238465;NT GT ./. 1 33238489 . C . . NT END=33241581;NT GT ./. 1 33241693 . C . . NT END=33244982;NT GT ./. 1 33245125 . C . . NT END=33245685;NT GT ./. 1 33245880 . C . . NT END=33246648;NT GT ./. 1 33246440 rs2282293 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8588,C/0.1412;Gene=YARS/NM_003680.3/1;CC=c.1140+209A>G;VC=Intron;DM=YARS/tRNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:C,T:6:6:0:0:5,1:169,17:18.13,0.00:18.13,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:35.2,0.0:0,0:0,0:50,5:100,146:1,0:NM_003680.3(YARS) c.1140+209A>G,-:0.14,-:NOT_FOUND,- 1 33246747 . C . . NT END=33248004;NT GT ./. 1 33248141 . C . . NT END=33251962;NT GT ./. 1 33251739 rs785415 T C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01597,C/0.984;PC=0.088;Gene=YARS/NM_003680.3/1;CC=c.906+224A>G;VC=Intron;DM=YARS/tRNA-synt_1b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:171:19.48:19.48:0.00:1.00:1.00:0.00:60:38.4:0:0:21:129:8:NM_003680.3(YARS) c.906+224A>G,NM_003680.3(YARS) c.906+224A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33252049 . C . . NT END=33252540;NT GT ./. 1 33252099 rs149745059 TCACATGCATGACTATTCCTAGCC T 19 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=TCACATGCATGACTATTCCTAGCC/0.8588,T/0.1412;NP=350;Gene=YARS/NM_003680.3/1;CC=c.821-74_821-52delGGCTAGGAATAGTCATGCATGTG;VC=Intron;DM=YARS/tRNA-synt_1b;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:TCACATGCATGACTATTCCTAGCC,T:38:15:0:8:30,8:962,234:0.00,18.73:0.00,4.88:0.00,13.85:0.00,0.97:0.00,0.94:0.00,1.00:60,60:7.4,44.9:0,0:0,0:111,70:36,80:32,22:-,NM_003680.3(YARS) c.821-74_821-52delGGCTAGGAATAGTCATGCATGTG:-,NOT_FOUND:-,0.101519 1 33252677 . C . . NT END=33256762;NT GT ./. 1 33252887 rs785416 T C 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.01597,C/0.984;NP=457;Gene=YARS/NM_003680.3/1;CC=c.685-211A>G;VC=Intron;DM=YARS/tRNA-synt_1b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:0:0:0:16:462:53.66:0.00:53.66:1.00:0.00:1.00:60:33.4:0:0:106:43:15:NM_003680.3(YARS) c.685-211A>G,NM_003680.3(YARS) c.685-211A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33256856 . C . . NT END=33263363;NT GT ./. 1 33256884 rs1765223 C A 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.7089,A/0.2911;PC=0.002;Gene=YARS/NM_003680.3/1;CC=c.592-29G>T;VC=Intron;DM=YARS/tRNA-synt_1b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:10:0:0:11,15:382,447:35.80,0.00:15.74,0.00:20.06,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:47.0,17.9:0,0:0,0:84,100:52,51:31,30:NM_003680.3(YARS) c.592-29G>T,-:0.29,-:0.307704,- 1 33263445 . C . . NT END=33272082;NT GT ./. 1 33272213 . C . . NT END=33276191;NT GT ./. 1 33272307 rs145764358 T TA 74 nt VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.9637,TA/0.03634;NP=449;PC=0.003;Gene=YARS/NM_003680.3/1;CC=c.381-96dupT;VC=Intron;DM=YARS/tRNA-synt_1b;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:47:9:25:0:22,25:663,764:0.00,74.25:0.00,5.81:0.00,68.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:20.4,11.0:0,0:0,0:124,116:19,35:18,15:-,NM_003680.3(YARS) c.381-96_381-95insT:-,0.04:-,NOT_FOUND 1 33275981 rs10798918 T C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8586,C/0.1414;Gene=YARS/NM_003680.3/1;CC=c.380+211A>G;VC=Intron;DM=YARS/tRNA-synt_1b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:C,T:9:9:0:0:7,2:234,59:24.67,0.00:24.67,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.3,57.0:0,0:0,0:29,70:121,81:13,57:NM_003680.3(YARS) c.380+211A>G,-:0.14,-:NOT_FOUND,- 1 33276368 . C . . NT END=33276511;NT GT ./. 1 33276424 rs4951787 G A 331 nt VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.01597,A/0.984;Gene=YARS/NM_003680.3/1;CC=c.205-57C>T;VC=Intron;DM=YARS/tRNA-synt_1b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:100:68:0:0:99,1:2854,20:331.47,0.60:200.52,0.00:130.95,0.60:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,85.0:0,0:0,0:83,54:68,96:38,0:NM_003680.3(YARS) c.205-57C>T,NM_003680.3(YARS) c.205-57C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33276659 . C . . NT END=33282788;NT GT ./. 1 33282846 . G . . NT END=33291700;NT GT ./. 1 33292532 . G . . NT END=33293593;NT GT ./. 1 33293683 . G . . NT END=33295564;NT GT ./. 1 33293748 rs10753266 T C 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.01597,C/0.984;NP=3226;Gene=S100PBP/NM_001256121.1/1;CC=c.920+66T>C;VC=Intron;Gene=S100PBP/NM_022753.3/0;CC=c.920+66T>C;VC=Intron;DM=S100PBP/S100PBPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:1:0:0:16:516:59.22:3.58:55.65:1.00:1.00:1.00:60:32.2:0:0:79:71:32:NM_001256121.1(S100PBP) c.920+66T>C,NM_001256121.1(S100PBP) c.920+66T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33295669 . G . . NT END=33302087;NT GT ./. 1 33295956 rs397841705 AT A 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AT/0.7748,A/0.2252;DB;DBA=NA;PAF=AT/0.7748,A/0.2252;NP=7;PC=0.206;Gene=S100PBP/NM_001256121.1/1;CC=c.1024+295delT;VC=Intron;Gene=S100PBP/NM_022753.3/0;CC=c.1024+295delT;VC=Intron;DM=S100PBP/S100PBPR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AT,A:4:0:0:3:1,3:32,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,0.0:0,0:0,0:150,128:1,23:0,3:-,NM_001256121.1(S100PBP) c.1024+289delT:-,0.22:-,NOT_FOUND 1 33302249 . a . . NT END=33318679;NT GT ./. 1 33318561 rs702836 T C 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.01597,A/.,C/0.984;NP=3217;PC=0.030;Gene=S100PBP/NM_001256121.1/1;CC=c.1025-119T>C;VC=Intron;Gene=S100PBP/NM_022753.3/0;CC=c.1025-119T>C;VC=Intron;DM=S100PBP/S100PBPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:349:40.14:40.14:0.00:1.00:1.00:0.00:60:59.5:0:0:16:135:11:NM_001256121.1(S100PBP) c.1025-119T>C,NM_001256121.1(S100PBP) c.1025-119T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33318634 rs785274 G A 83 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.01597,A/0.984;NP=3469;Gene=S100PBP/NM_001256121.1/1;CC=c.1025-46G>A;VC=Intron;Gene=S100PBP/NM_022753.3/0;CC=c.1025-46G>A;VC=Intron;DM=S100PBP/S100PBPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:20:0:0:22:729:83.37:60.36:23.01:1.00:1.00:1.00:60:47.8:0:0:53:96:28:NM_001256121.1(S100PBP) c.1025-46G>A,NM_001256121.1(S100PBP) c.1025-46G>A:0.99,0.99:0.985468,0.985468 1 33318768 . G . . NT END=33321524;NT GT ./. 1 33318868 rs61236897 C CATTTGAGGTCAGGA 24 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.04413,CATTTGA/.,CATTTGAGGTCAGGA/0.9559;NP=42;PC=0.122;Gene=S100PBP/NM_001256121.1/1;CC=c.1112+101_1112+102insATTTGAGGTCAGGA;VC=Intron;Gene=S100PBP/NM_022753.3/0;CC=c.1112+101_1112+102insATTTGAGGTCAGGA;VC=Intron;DM=S100PBP/S100PBPR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CATTTGAGGTCAGGA:10:0:7:0:3,7:70,237:0.00,24.42:0.00,0.00:0.00,24.42:0.00,1.00:0.00,0.00:0.00,1.00:60,60:42.7,3.3:0,0:0,0:138,76:8,75:1,19:-,NM_001256121.1(S100PBP) c.1112+101_1112+102insATTTGAGGTCAGGA:-,NOT_FOUND:-,NOT_FOUND 1 33318931 rs3831935 TG T 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TG/0.8586,T/0.1414;NP=55;PC=0.012;Gene=S100PBP/NM_001256121.1/1;CC=c.1112+167delG;VC=Intron;Gene=S100PBP/NM_022753.3/0;CC=c.1112+167delG;VC=Intron;DM=S100PBP/S100PBPR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TG,T:4:0:0:2:2,2:69,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,0.0:0,0:0,0:126,93:25,57:14,41:-,NM_001256121.1(S100PBP) c.1112+165delG:-,0.14:-,NOT_FOUND 1 33321640 . T . . NT END=33329338;NT GT ./. 1 33330042 . CT C 61 idl,rn VT=DEL;SST=Single;DP=147;NP=4;PC=0.011;Gene=FNDC5/NM_001171940.1/0;CC=c.531+324delA;VC=Intron;Gene=FNDC5/NM_153756.2/1;CC=c.634-143delA;VC=Intron;Gene=FNDC5/NM_001171941.2/0;CC=c.*168delA;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,T,I,C:140:101:17:27:1,100,2,14,23:14,3242,25,504,871:-0.13,0.00,-0.15,29.38,60.58:0.01,0.00,-0.33,13.57,35.69:-0.14,0.00,0.17,15.81,24.89:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:92.0,27.7,70.5,25.8,14.5:0,0,0,3,4:0,0,0,0,0:149,84,49,58,43:2,63,84,91,96:0,35,32,30,20:-,NM_001171941.1(FNDC5) c.*155A[13]:-,NOT_FOUND:-,NOT_FOUND 1 33330399 . C . . NT END=33333353;NT GT ./. 1 33330432 rs1284368 A G 605 nt VT=SNV;PN=G;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=A/0.01597,G/0.984;NP=3463;PC=0.203;Gene=FNDC5/NM_001171940.1/0;CC=c.500-34T>C;VC=Intron;Gene=FNDC5/NM_153756.2/1;CC=c.500-34T>C;VC=Intron;Gene=FNDC5/NM_001171941.2/0;CC=c.275-34T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:174:94:0:0:1,1,171,1:12,5,5269,10:0.00,0.01,605.33,0.06:0.00,0.00,224.29,0.00:0.00,0.01,381.05,0.06:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:83.0,5.0,38.3,65.0:0,0,0,0:0,0,0,0:133,80,89,44:2,71,57,107:0,0,26,0:NM_001171941.1(FNDC5) c.275-34T>C,NM_001171941.1(FNDC5) c.275-34T>C:0.99,0.99:0.985468,0.985468 1 33333444 . C . . NT END=33333790;NT GT ./. 1 33333990 . C . . NT END=33334482;NT GT ./. 1 33334599 . C . . NT END=33336253;NT GT ./. 1 33336348 . G . . NT END=33354499;NT GT ./. 1 33354878 . G . . NT END=33359124;NT GT ./. 1 33359102 . C T 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;Gene=HPCA/NM_002143.2/1;CC=c.379-23C>T;VC=Intron;DM=HPCA/EF-hand_7;DM=HPCA/EF-hand_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:42:0:0:26,17:846,559:0.00,51.47:0.00,42.00:0.00,9.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.9,49.2:0,0:0,0:54,55:94,94:23,10:-,NM_002143.2(HPCA) c.379-23C>T:-,NOT_FOUND:-,NOT_FOUND 1 33359231 . G . . NT END=33359365;NT GT ./. 1 33359464 . G . . NT END=33360405;NT GT ./. 1 33360535 . C . . NT END=33360905;NT GT ./. 1 33361041 . C . . NT END=33361155;NT GT ./. 1 33361345 . C . . NT END=33361510;NT GT ./. 1 33361571 . C . . NT END=33363726;NT GT ./. 1 33363921 . C . . NT END=33366823;NT GT ./. 1 33364095 rs942242 C T 60 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.2592,T/0.7408;PC=0.003;Gene=TMEM54/NM_033504.2/1;CC=c.17-175G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:0:0:0:13,19:317,604:0.00,60.22:0.00,0.00:0.00,60.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:25.1,42.4:0,0:0,0:114,100:37,51:25,36:-,NM_033504.2(TMEM54) c.17-175G>A:-,0.73:-,NOT_FOUND 1 33366840 . G . . NT END=33402406;NT GT ./. 1 33402172 rs8040 C T 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8111,T/0.1889;PC=1.000;Gene=RNF19B/NM_001127361.2/0;CC=c.*717G>A;VC=3UTR;Gene=RNF19B/NM_001300826.1/0;CC=c.*235G>A;VC=3UTR;Gene=RNF19B/NM_153341.3/1;CC=c.*235G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,T:10:10:0:0:5,5:140,151:0.00,14.47:0.00,14.47:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:36.2,36.0:0,0:0,0:57,41:92,109:51,24:-,NM_153341.2(RNF19B) c.*235G>A:-,0.21:-,NOT_FOUND 1 33402334 rs200262373 GA G 15 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=GA/0.5653,G/0.4347;NP=53;Gene=RNF19B/NM_001127361.2/0;CC=c.*554delT;VC=3UTR;Gene=RNF19B/NM_001300826.1/0;CC=c.*72delT;VC=3UTR;Gene=RNF19B/NM_153341.3/1;CC=c.*72delT;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:GA,I,G:39:41:3:9:30,3,6:948,98,282:0.00,6.83,15.19:0.00,5.64,15.36:0.00,1.19,-0.17:0.00,0.00,0.87:0.00,0.00,0.99:0.00,0.00,0.53:60,60,60:23.0,0.0,13.8:0,0,3:0,0,0:34,23,68:115,119,83:27,9,24:-,NM_153341.2(RNF19B) c.*56T[16]:-,NOT_FOUND:-,NOT_FOUND 1 33402911 . C . . NT END=33403997;NT GT ./. 1 33404130 . C . . NT END=33407852;NT GT ./. 1 33407693 rs194643 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7997,A/0.2003;Gene=RNF19B/NM_001127361.2/0;CC=c.1610+160C>T;VC=Intron;Gene=RNF19B/NM_001300826.1/0;CC=c.1610+160C>T;VC=Intron;Gene=RNF19B/NM_153341.3/1;CC=c.1613+160C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:A,G:19:19:0:0:5,14:165,482:14.13,0.00:14.13,0.00:0.00,0.00:0.86,0.00:0.86,0.00:0.00,0.00:60,60:33.0,1.4:0,0:0,0:78,41:73,109:20,24:NM_153341.2(RNF19B) c.1613+160C>T,-:0.22,-:NOT_FOUND,- 1 33408061 . C . . NT END=33409619;NT GT ./. 1 33409551 rs194644 C T 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.63,T/0.37;PC=0.827;Gene=RNF19B/NM_001127361.2/0;CC=c.1402+69G>A;VC=Intron;Gene=RNF19B/NM_001300826.1/0;CC=c.1402+69G>A;VC=Intron;Gene=RNF19B/NM_153341.3/1;CC=c.1405+69G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:39:38:0:0:1,20,18:10,689,538:-0.00,0.00,50.93:0.02,0.00,38.24:-0.03,0.00,12.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.0,2.5,36.7:0,0,0:0,0,0:53,61,45:98,89,103:0,28,17:-,NM_153341.2(RNF19B) c.1405+69G>A:-,0.37:-,NOT_FOUND 1 33409693 rs194645 G A 128 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.8115,A/0.1885;PC=0.004;Gene=RNF19B/NM_001127361.2/0;CC=c.1329C>T;ProtCh=p.G443=;VC=Silent;Gene=RNF19B/NM_001300826.1/0;CC=c.1329C>T;ProtCh=p.G443=;VC=Silent;Gene=RNF19B/NM_153341.3/1;CC=c.1332C>T;ProtCh=p.G444=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:81:57:0:0:42,38,1:1321,1218,8:128.14,0.00,-0.13:71.08,0.00,-0.09:57.06,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.5,7.2,87.0:0,0,0:0,0,0:71,69,93:77,75,58:35,42,0:NM_153341.2(RNF19B) c.1332C>T (p.(=)),-:0.2,-:0.169153,- 1 33409761 . C . . NT END=33411114;NT GT ./. 1 33411230 . C . . NT END=33412002;NT GT ./. 1 33412166 . C . . NT END=33413822;NT GT ./. 1 33413968 . C . . NT END=33415169;NT GT ./. 1 33415376 . C . . NT END=33429651;NT GT ./. 1 33416628 rs168953 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6298,C/0.3702;PC=0.159;Gene=RNF19B/NM_001127361.2/0;CC=c.636-1253A>G;VC=Intron;Gene=RNF19B/NM_001300826.1/0;CC=c.636-1253A>G;VC=Intron;Gene=RNF19B/NM_153341.3/1;CC=c.636-1253A>G;VC=Intron;DM=RNF19B/IBR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:10:10:0:0:3,7:87,204:7.48,0.00:7.48,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:60,60:29.0,17.0:0,0:0,0:40,44:111,93:1,37:NM_153341.2(RNF19B) c.636-1253A>G,-:0.37,-:NOT_FOUND,- 1 33416907 rs194647 G A 247 nt VT=SNV;PN=A;NN=T;SST=Single;DP=174;DB;DBA=NA;PAF=G/0.8117,A/0.1883,C/.,T/.;PC=0.997;Gene=RNF19B/NM_001127361.2/0;CC=c.636-1532C>T;VC=Intron;Gene=RNF19B/NM_001300826.1/0;CC=c.636-1532C>T;VC=Intron;Gene=RNF19B/NM_153341.3/1;CC=c.636-1532C>T;VC=Intron;DM=RNF19B/IBR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:174:148:0:0:82,92:2602,3082:247.03,0.00:176.93,0.00:70.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,6.3:0,0:0,0:41,54:103,95:26,27:NM_153341.2(RNF19B) c.636-1532C>T,-:0.2,-:NOT_FOUND,- 1 33430102 rs113840389 T G 99 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=28;PC=0.024;Gene=RNF19B/NM_001127361.2/0;CC=c.185A>C;ProtCh=p.Q62P;VC=Missense;Gene=RNF19B/NM_001300826.1/0;CC=c.185A>C;ProtCh=p.Q62P;VC=Missense;Gene=RNF19B/NM_153341.3/1;CC=c.185A>C;ProtCh=p.Q62P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:G:30:24:0:0:30:849:99.00:74.97:24.03:1.00:1.00:1.00:60:48.2:0:0:15:131:12:NM_153341.2(RNF19B) c.185A>C (p.Gln62Pro),NM_153341.2(RNF19B) c.185A>C (p.Gln62Pro):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 33430287 . G . . NT END=33476429;NT GT ./. 1 33430555 rs527208 A G 49 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.09764,G/0.9024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:0:0:0:14:421:48.77:0.00:48.77:1.00:0.00:1.00:60:51.1:0:0:84:65:17:NM_153341.2(RNF19B) c.1-u269T>C,NM_153341.2(RNF19B) c.1-u269T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 33444969 rs72276504 TACACACAC T 13 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;PC=0.003;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TACACACAC,T:6:5:0:5:2,4:67,155:0.00,13.00:0.00,6.48:0.00,6.52:0.00,0.90:0.00,0.98:0.00,0.97:60,60:0.0,11.5:0,1:0,0:43,77:88,74:32,15:-,chr1 g.33444970_33444977delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 33476143 rs201412582 G A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=2;PC=0.120;Gene=AK2/NM_001199199.1/0;CC=c.*287C>T;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*287C>T;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:15:14:0:0:3,12:104,341:8.59,0.00:8.69,0.00:-0.10,0.00:0.55,0.00:0.92,0.00:0.47,0.00:40,60:115.0,10.3:0,0:0,0:67,42:84,108:8,20:NR_037591.1(AK2) n.1187C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 33476165 rs377208616 G A 8 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=AK2/NM_001199199.1/0;CC=c.*265C>T;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*265C>T;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:19:18:0:0:4,15:105,476:8.18,0.00:8.28,0.00:-0.10,0.00:0.72,0.00:0.96,0.00:0.47,0.00:40,60:113.8,9.6:4,0:0,0:62,53:88,98:31,28:NR_037591.1(AK2) n.1165C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 33476167 rs145424098 C CTCTG 7 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=AK2/NM_001199199.1/0;CC=c.*262_*263insCAGA;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*262_*263insCAGA;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,C,G,CTCTG:21:20:3:0:1,15,2,3:8,468,63,95:-0.09,0.00,4.56,7.40:-0.06,0.00,4.61,7.46:-0.02,0.00,-0.04,-0.07:0.00,0.00,0.00,0.49:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.43:15,60,60,40:110.0,9.6,97.5,115.0:1,0,0,0:0,0,0,0:16,55,0,91:135,96,150,60:0,28,0,8:-,NR_037591.1(AK2) n.1162_1163insCAGA:-,NOT_FOUND:-,NOT_FOUND 1 33476223 rs67829320 TAC T 17 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=TAC/0.5335,T/0.4665;NP=158;Gene=AK2/NM_001199199.1/0;CC=c.*205_*206delGT;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*205_*206delGT;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:TAC,T:47:46:0:8:39,8:1209,220:0.00,16.52:0.00,16.60:0.00,-0.08:0.00,0.96:0.00,1.00:0.00,0.45:60,60:6.1,108.5:0,0:0,0:37,49:114,101:28,26:-,NR_037591.1(AK2) n.1103GT[1]:-,NOT_FOUND:-,NOT_FOUND 1 33476239 rs74066438 T C 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=531;Gene=AK2/NM_001199199.1/0;CC=c.*191A>G;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*191A>G;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:55:0:0:10,46:319,1559:25.26,0.00:22.92,0.00:2.34,0.00:0.99,0.00:1.00,0.00:0.49,0.00:60,60:106.3,5.5:0,0:0,0:47,37:103,114:27,24:NR_037591.1(AK2) n.1091A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 33476292 rs74066439 A G 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=1326;Gene=AK2/NM_001199199.1/0;CC=c.*138T>C;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*138T>C;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:97:93:0:0:77,19,1:2474,639,11:0.00,52.23,-0.21:0.00,40.25,-0.16:0.00,11.98,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,15:10.5,145.2,110.0:0,0,0:0,0,0:48,44,143:101,105,8:27,20,0:-,NR_037591.1(AK2) n.1038T>C:-,NOT_FOUND:-,NOT_FOUND 1 33476353 rs66599471 C T 67 nt VT=SNV;PN=C;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=740;PC=0.849;Gene=AK2/NM_001199199.1/0;CC=c.*77G>A;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*77G>A;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:134:110:0:0:108,26:3543,832:0.00,67.01:0.00,37.56:0.00,29.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,161.0:0,0:0,0:61,84:82,64:29,21:-,NR_037591.1(AK2) n.977G>A:-,NOT_FOUND:-,NOT_FOUND 1 33476385 rs76881767 C G 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=NA;PC=0.407;Gene=AK2/NM_001199199.1/0;CC=c.*45G>C;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*45G>C;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:138:99:0:0:116,22:3526,657:0.00,50.03:0.00,25.26:0.00,24.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,171.1:0,0:0,0:83,101:62,38:32,15:-,NR_037591.1(AK2) n.945G>C:-,NOT_FOUND:-,NOT_FOUND 1 33476387 rs201842558 C T 53 nt VT=SNV;PN=G;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=NA;PC=0.197;Gene=AK2/NM_001199199.1/0;CC=c.*43G>A;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*43G>A;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:138:101:0:0:115,23:3643,686:0.00,52.66:0.00,25.34:0.00,27.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,167.4:0,0:0,0:84,102:62,39:31,16:-,NR_037591.1(AK2) n.943G>A:-,NOT_FOUND:-,NOT_FOUND 1 33476396 rs79824855 G A 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=145;DB;DBA=NA;PAF=NA;PC=1.000;Gene=AK2/NM_001199199.1/0;CC=c.*34C>T;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*34C>T;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:145:100:0:0:20,2,123:601,23,4039:44.61,-0.37,0.00:27.34,-0.39,0.00:17.27,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:174.1,104.0,7.4:0,0,0:0,0,0:113,100,78:23,39,67:14,11,39:NR_037591.1(AK2) n.934C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 33476404 rs76230073 T G 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=143;DB;DBA=NA;PAF=NA;PC=1.000;Gene=AK2/NM_001199199.1/0;CC=c.*26A>C;VC=3UTR;Gene=AK2/NM_013411.4/1;CC=c.*26A>C;VC=3UTR;Gene=AK2/NR_037591.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:143:95:0:0:20,123:617,3830:46.18,0.00:23.35,0.00:22.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:173.1,9.4:0,0:0,0:116,70:24,72:13,39:NR_037591.1(AK2) n.926A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 33478237 . t . . NT END=33478502;NT GT ./. 1 33478585 rs368005323 GCA G 33 rn VT=DEL;SST=Single;DP=185;DB;DBA=NA;PAF=NA;NP=58;Gene=AK2/NM_001199199.1/0;CC=c.670+221_670+222delTG;VC=Intron;Gene=AK2/NM_013411.4/1;CC=c.694+221_694+222delTG;VC=Intron;Gene=AK2/NR_037591.1/0;VC=NonCoding;Gene=AK2/NM_001625.3/0;CC=c.*195_*196delTG;VC=3UTR;Gene=AK2/NR_037592.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:GCA,I,G:185:138:4:15:166,4,15:5635,133,485:0.00,6.99,33.22:0.00,0.21,21.75:0.00,6.78,11.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.5,7.2,4.7:0,0,0:0,0,0:73,77,41:68,73,106:28,12,20:-,NM_001625.3(AK2) c.*179TG[8]:-,NOT_FOUND:-,NOT_FOUND 1 33479004 . C . . NT END=33480122;NT GT ./. 1 33480196 . C . . NT END=33485289;NT GT ./. 1 33485763 . C . . NT END=33486967;NT GT ./. 1 33485789 rs60849575 AACACACAC A 57 idl,nt VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=47;PC=0.424;Gene=AK2/NM_001199199.1/0;CC=c.401+1195_401+1202delGTGTGTGT;VC=Intron;Gene=AK2/NM_013411.4/1;CC=c.425+1171_425+1178delGTGTGTGT;VC=Intron;Gene=AK2/NR_037591.1/0;VC=NonCoding;Gene=AK2/NM_001625.3/0;CC=c.425+1171_425+1178delGTGTGTGT;VC=Intron;Gene=AK2/NR_037592.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AACACACAC,A:48:26:0:28:27,21:860,822:0.00,56.68:0.00,17.62:0.00,39.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,12.3:0,7:0,0:128,70:23,80:11,20:-,NM_001625.3(AK2) c.425+1171_425+1178delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 33487063 . C . . NT END=33487193;NT GT ./. 1 33487305 . C . . NT END=33490042;NT GT ./. 1 33490169 . C . . NT END=33502336;NT GT ./. 1 33490308 rs143749706 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.995,C/0.004992;NP=48;PC=0.026;Gene=AK2/NM_001199199.1/0;CC=c.94-140A>G;VC=Intron;Gene=AK2/NM_013411.4/1;CC=c.94-140A>G;VC=Intron;Gene=AK2/NR_037591.1/0;VC=NonCoding;Gene=AK2/NM_001625.3/0;CC=c.94-140A>G;VC=Intron;Gene=AK2/NR_037592.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:0:0:0:6,7:205,213:19.47,0.00:0.00,0.00:19.47,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:34.2,6.1:0,0:0,0:116,128:34,23:10,17:NM_001625.3(AK2) c.94-140A>G,-:0.01,-:NOT_FOUND,- 1 33500050 rs71833811 TAC T 14 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TAC/0.7512,T/0.2488;NP=65;PC=0.028;Gene=AK2/NM_001199199.1/0;CC=c.93+2285_93+2286delGT;VC=Intron;Gene=AK2/NM_013411.4/1;CC=c.93+2285_93+2286delGT;VC=Intron;Gene=AK2/NR_037591.1/0;VC=NonCoding;Gene=AK2/NM_001625.3/0;CC=c.93+2285_93+2286delGT;VC=Intron;Gene=AK2/NR_037592.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:TAC,T:5:5:0:5:1,4:27,164:0.00,13.73:0.00,10.13:0.00,3.60:0.00,0.93:0.00,0.99:0.00,0.78:60,70:0.0,9.0:0,1:0,0:1,63:150,85:0,29:-,NM_001625.3(AK2) c.93+2285_93+2286delGT:-,NOT_FOUND:-,NOT_FOUND 1 33502184 rs11591185 G A 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9429,A/0.05711;Gene=AK2/NM_001199199.1/0;CC=c.93+153C>T;VC=Intron;Gene=AK2/NM_013411.4/1;CC=c.93+153C>T;VC=Intron;Gene=AK2/NR_037591.1/0;VC=NonCoding;Gene=AK2/NM_001625.3/0;CC=c.93+153C>T;VC=Intron;Gene=AK2/NR_037592.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:8,9:247,270:23.41,0.00:23.41,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:55.1,5.8:0,0:0,0:29,44:116,107:12,18:NM_001625.3(AK2) c.93+153C>T,-:0.06,-:NOT_FOUND,- 1 33502430 . G . . NT END=33547850;NT GT ./. 1 33547768 rs1871322 T C 81 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.6847,C/0.3153;Gene=AZIN2/NM_001293562.1/0;CC=c.-72-11T>C;VC=Intron;Gene=AZIN2/NM_052998.3/1;CC=c.-72-11T>C;VC=Intron;Gene=AZIN2/NM_001301823.1/0;CC=c.-181+659T>C;VC=Intron;Gene=AZIN2/NM_001301824.1/0;CC=c.-7+659T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:36:0:0:26,14:801,451:81.24,0.00:65.48,0.00:15.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,11.3:0,0:0,0:75,44:72,107:42,21:NM_052998.2(ADC) c.-72-11T>C,-:0.32,-:NOT_FOUND,- 1 33547956 . G . . NT END=33549554;NT GT ./. 1 33549729 . G . . NT END=33557650;NT GT ./. 1 33557824 . G . . NT END=33558882;NT GT ./. 1 33557956 . T G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;Gene=AZIN2/NM_001293562.1/0;CC=c.452+133T>G;VC=Intron;Gene=AZIN2/NM_052998.3/1;CC=c.452+133T>G;VC=Intron;Gene=AZIN2/NM_001301823.1/0;CC=c.167+133T>G;VC=Intron;Gene=AZIN2/NM_001301824.1/0;CC=c.167+133T>G;VC=Intron;Gene=AZIN2/NM_001301826.1/0;CC=c.452+133T>G;VC=Intron;Gene=AZIN2/NR_126031.1/0;VC=NonCoding;Gene=AZIN2/NM_001301825.1/0;CC=c.452+133T>G;VC=Intron;DM=AZIN2/Orn_Arg_deC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:C,G,T:10:4:0:0:2,5,3:24,117,65:1.69,11.65,0.00:1.78,-0.59,0.00:-0.10,12.24,0.00:0.00,0.95,0.00:0.00,0.51,0.00:0.00,0.73,0.00:60,60,60:50.0,80.8,2.3:0,0,0:0,0,0:116,35,98:22,89,34:18,3,29:NM_052998.2(ADC) c.452+133T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 33557961 . T G 9 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;Gene=AZIN2/NM_001293562.1/0;CC=c.452+138T>G;VC=Intron;Gene=AZIN2/NM_052998.3/1;CC=c.452+138T>G;VC=Intron;Gene=AZIN2/NM_001301823.1/0;CC=c.167+138T>G;VC=Intron;Gene=AZIN2/NM_001301824.1/0;CC=c.167+138T>G;VC=Intron;Gene=AZIN2/NM_001301826.1/0;CC=c.452+138T>G;VC=Intron;Gene=AZIN2/NR_126031.1/0;VC=NonCoding;Gene=AZIN2/NM_001301825.1/0;CC=c.452+138T>G;VC=Intron;DM=AZIN2/Orn_Arg_deC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:G,T:9:4:0:0:6,3:90,55:9.30,0.00:-0.01,0.00:9.31,0.00:0.99,0.00:0.99,0.00:0.99,0.00:60,60:74.2,19.7:0,0:0,0:41,103:82,29:3,0:NM_052998.2(ADC) c.452+138T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 33557963 . A G 12 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;Gene=AZIN2/NM_001293562.1/0;CC=c.452+140A>G;VC=Intron;Gene=AZIN2/NM_052998.3/1;CC=c.452+140A>G;VC=Intron;Gene=AZIN2/NM_001301823.1/0;CC=c.167+140A>G;VC=Intron;Gene=AZIN2/NM_001301824.1/0;CC=c.167+140A>G;VC=Intron;Gene=AZIN2/NM_001301826.1/0;CC=c.452+140A>G;VC=Intron;Gene=AZIN2/NR_126031.1/0;VC=NonCoding;Gene=AZIN2/NM_001301825.1/0;CC=c.452+140A>G;VC=Intron;DM=AZIN2/Orn_Arg_deC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,C,G:9:4:0:0:3,1,5:55,5,117:0.00,0.06,11.71:0.00,-0.15,0.05:0.00,0.21,11.67:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.98:60,60,60:19.7,29.0,83.2:0,0,0:0,0,0:105,44,42:27,78,82:0,0,4:-,NM_052998.2(ADC) c.452+140A>G:-,NOT_FOUND:-,NOT_FOUND 1 33557969 . T G 9 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;Gene=AZIN2/NM_001293562.1/0;CC=c.452+146T>G;VC=Intron;Gene=AZIN2/NM_052998.3/1;CC=c.452+146T>G;VC=Intron;Gene=AZIN2/NM_001301823.1/0;CC=c.167+146T>G;VC=Intron;Gene=AZIN2/NM_001301824.1/0;CC=c.167+146T>G;VC=Intron;Gene=AZIN2/NM_001301826.1/0;CC=c.452+146T>G;VC=Intron;Gene=AZIN2/NR_126031.1/0;VC=NonCoding;Gene=AZIN2/NM_001301825.1/0;CC=c.452+146T>G;VC=Intron;DM=AZIN2/Orn_Arg_deC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:G,T:11:4:0:0:6,5:90,72:8.54,0.00:0.29,0.00:8.25,0.00:0.98,0.00:0.96,0.00:0.99,0.00:60,60:76.7,27.4:0,0:0,0:46,82:73,69:3,32:NM_052998.2(ADC) c.452+146T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 33559018 . G . . NT END=33560148;NT GT ./. 1 33560315 . G . . NT END=33562307;NT GT ./. 1 33560338 rs804428 A G 334 nt VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.01138,G/0.9886;Gene=AZIN2/NM_001293562.1/0;CC=c.753+24A>G;VC=Intron;Gene=AZIN2/NM_052998.3/1;CC=c.753+24A>G;VC=Intron;Gene=AZIN2/NM_001301823.1/0;CC=c.468+24A>G;VC=Intron;Gene=AZIN2/NM_001301824.1/0;CC=c.468+24A>G;VC=Intron;Gene=AZIN2/NM_001301826.1/0;CC=c.753+24A>G;VC=Intron;Gene=AZIN2/NR_126031.1/0;VC=NonCoding;Gene=AZIN2/NM_001301825.1/0;CC=c.753+24A>G;VC=Intron;DM=AZIN2/Orn_Arg_deC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:42:0:0:92:2900:333.59:95.50:238.09:1.00:1.00:1.00:60:39.2:0:0:95:51:28:NM_052998.2(ADC) c.753+24A>G,NM_052998.2(ADC) c.753+24A>G:0.98,0.98:0.960403,0.960403 1 33562471 . G . . NT END=33563667;NT GT ./. 1 33563781 . G . . NT END=33583502;NT GT ./. 1 33583718 . G . . NT END=33585644;NT GT ./. 1 33585784 . G . . NT END=33612777;NT GT ./. 1 33612508 rs3766813 G A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8201,A/0.1799;PC=0.017;Gene=TRIM62/NM_018207.2/1;CC=c.*270C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:4:0:0:3,1:96,34:10.05,0.00:10.05,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:53.7,0.0:0,0:0,0:67,72:83,79:22,0:NM_018207.2(TRIM62) c.*270C>T,-:0.18,-:NOT_FOUND,- 1 33613329 . C . . NT END=33623853;NT GT ./. 1 33623970 . C . . NT END=33625288;NT GT ./. 1 33625546 . C . . NT END=33631071;NT GT ./. 1 33631069 rs2306257 C A 149 nt VT=SNV;PN=T;NN=A;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.8123,A/0.1877;PC=0.998;Gene=TRIM62/NM_018207.2/1;CC=c.504+3G>T;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:114:89:0:0:52,61,1:1585,2036,8:149.32,0.00,-0.18:90.53,0.00,-0.08:58.79,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,8.0,81.0:0,0,0:0,0,0:49,49,107:92,95,44:28,28,0:NM_018207.2(TRIM62) c.504+3G>T,-:0.19,-:0.187711,- 1 33631168 . C . . NT END=33646625;NT GT ./. 1 33646497 rs634307 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1977,C/0.8023;Gene=TRIM62/NM_018207.2/1;CC=c.408+129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:7:6:0:0:4,3:129,100:12.73,0.00:13.10,0.00:-0.37,0.00:0.90,0.00:0.99,0.00:0.71,0.00:60,60:105.2,49.0:0,0:0,0:25,39:115,71:7,4:NM_018207.2(TRIM62) c.408+129A>G,-:0.8,-:NOT_FOUND,- 1 33646568 . G C 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;NP=1;Gene=TRIM62/NM_018207.2/1;CC=c.408+58C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:22:15:0:0:4,18:102,531:7.62,0.00:8.28,0.00:-0.66,0.00:0.70,0.00:0.90,0.00:0.75,0.00:60,60:146.5,33.7:0,0:0,0:81,26:38,120:20,21:NM_018207.2(TRIM62) c.408+58C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 33646950 rs622407 A G 205 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=165;DB;DBA=NA;PAF=A/0.2504,G/0.7496;PC=1.000;Gene=TRIM62/NM_018207.2/1;CC=c.84T>C;ProtCh=p.H28=;VC=Silent;DM=TRIM62/zf-C3HC4_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:165:100:0:0:97,67,1:2930,2209,8:0.00,204.67,-0.22:0.00,112.71,-0.07:0.00,91.97,-0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.7,41.5,83.0:0,0,0:0,0,0:58,90,40:82,57,111:34,35,0:-,NM_018207.2(TRIM62) c.84T>C (p.(=)):-,0.77:-,0.780441 1 33647045 . C . . NT END=33736175;NT GT ./. 1 33684533 . TACACAC T 6 rn VT=DEL;SST=Single;DP=4;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TACACAC,T:4:3:0:2:2,2:67,67:0.00,6.45:0.00,4.96:0.00,1.49:0.00,0.51:0.00,0.89:0.00,0.79:60,60:5.5,42.5:0,0:0,0:49,40:101,109:17,20:-,chr1 g.33684534_33684539delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 33736214 . g . . NT END=33740497;NT GT ./. 1 33740818 rs6425814 A C 498 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=A/0.05651,C/0.9435,T/.;Gene=ZNF362/NM_152493.2/1;CC=c.39-883A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:144:99:0:0:2,141,1:25,4352,9:0.00,497.55,0.05:0.00,286.06,0.06:0.00,211.49,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:31.5,35.0,102.0:0,0,0:0,0,0:21,85,119:128,66,29:14,37,0:NM_152493.2(ZNF362) c.39-883A>C,NM_152493.2(ZNF362) c.39-883A>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 33740932 . G . . NT END=33741700;NT GT ./. 1 33741615 rs7514338 T A 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.7718,A/0.2282;Gene=ZNF362/NM_152493.2/1;CC=c.39-86T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:43:0:0:24,21:783,693:76.24,0.00:59.65,0.00:16.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,10.6:0,0:0,0:29,31:121,109:20,28:NM_152493.2(ZNF362) c.39-86T>A,-:0.18,-:NOT_FOUND,- 1 33741765 . G . . NT END=33741948;NT GT ./. 1 33741787 rs12743549 G A 195 nt VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.8333,A/0.1667;Gene=ZNF362/NM_152493.2/1;CC=c.102+23G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:120:92:0:0:64,1,55:2000,8,1543:194.92,-0.14,0.00:116.52,-0.08,0.00:78.40,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:51.8,8.0,17.1:0,0,0:0,0,0:66,118,73:78,33,78:45,0,38:NM_152493.2(ZNF362) c.102+23G>A,-:0.17,-:0.168768,- 1 33741895 rs12743740 G A 207 nt VT=SNV;PN=G;NN=C;SST=Single;DP=164;DB;DBA=NA;PAF=G/0.8335,A/0.1665;PC=0.030;Gene=ZNF362/NM_152493.2/1;CC=c.103-54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:164:133:0:0:74,1,89:2206,18,2836:207.04,0.09,0.00:149.04,-0.15,0.00:58.00,0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.2,203.0,10.4:0,0,0:0,0,0:60,99,55:83,52,88:37,0,29:NM_152493.2(ZNF362) c.103-54G>A,-:0.17,-:NOT_FOUND,- 1 33742196 . G . . NT END=33745724;NT GT ./. 1 33742228 rs4475712 T C 608 nt VT=SNV;PN=G;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=T/0.007788,C/0.9922;Gene=ZNF362/NM_152493.2/1;CC=c.349+33T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:179:83:0:0:1,176,2:11,5273,15:0.08,608.33,0.12:0.00,205.10,0.00:0.08,403.23,0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:68.0,45.2,53.0:0,0,0:0,0,0:76,106,3:75,43,147:0,23,3:NM_152493.2(ZNF362) c.349+33T>C,NM_152493.2(ZNF362) c.349+33T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 33742336 rs12078972 A G 185 nt VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.008387,G/0.9916;NP=7;Gene=ZNF362/NM_152493.2/1;CC=c.349+141A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:G:54:2:0:0:54:1596:185.15:3.83:181.33:1.00:1.00:1.00:60:78.0:0:0:95:55:30:NM_152493.2(ZNF362) c.349+141A>G,NM_152493.2(ZNF362) c.349+141A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33742353 rs55879775 C T 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.3021,T/0.6979;Gene=ZNF362/NM_152493.2/1;CC=c.349+158C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:0:0:0:23,22:597,699:0.00,67.00:0.00,0.00:0.00,67.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:61.7,92.0:0,0:0,0:109,105:39,45:23,22:-,NM_152493.2(ZNF362) c.349+158C>T:-,0.71:-,NOT_FOUND 1 33746059 . G . . NT END=33747187;NT GT ./. 1 33746163 rs10914676 T C 446 nt VT=SNV;PN=C;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=T/0.007788,C/0.9922;NP=259;Gene=ZNF362/NM_152493.2/1;CC=c.683+105T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:134:70:0:0:1,132,1:12,3850,13:0.12,446.08,0.14:0.00,158.17,0.00:0.12,287.91,0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:210.0,42.6,148.0:0,0,0:0,0,0:75,110,22:55,36,121:0,23,0:NM_152493.2(ZNF362) c.683+105T>C,NM_152493.2(ZNF362) c.683+105T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 33747413 . G . . NT END=33760537;NT GT ./. 1 33760617 . G . . NT END=33760747;NT GT ./. 1 33760743 rs4641276 T C 136 nt VT=SNV;PN=C;NN=A;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.1827,C/0.8173;Gene=ZNF362/NM_152493.2/1;CC=c.988-5T>C;VC=Intron;DM=ZNF362/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:114:79:0:1:1,44,1,68:8,1475,14,2075:-0.21,135.96,-0.05,0.00:-0.16,64.72,-0.16,0.00:-0.05,71.24,0.11,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:173.0,39.2,26.0,11.8:0,0,0,0:0,0,0,0:67,46,55,65:84,99,96,81:0,26,0,26:NM_152493.2(ZNF362) c.988-5T>C,-:0.82,-:0.816854,- 1 33760907 . G . . NT END=33764530;NT GT ./. 1 33761014 rs34749979 C CAAAG 44 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.4746,CAAAG/0.5254,CGAAA/.;NP=609;PC=0.001;Gene=ZNF362/NM_152493.2/1;CC=c.1146+111_1146+112insGAAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAAAG:37:1:16:0:21,16:661,473:0.00,43.96:0.00,-0.12:0.00,44.08:0.00,1.00:0.00,0.62:0.00,1.00:60,60:17.0,6.3:1,0:0,0:109,86:42,64:27,30:-,NM_152493.2(ZNF362) c.1146+108_1146+109insAAAG:-,0.55:-,NOT_FOUND 1 33761201 rs7527638 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4615,T/0.5385;Gene=ZNF362/NM_152493.2/1;CC=c.1146+295C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,T:5:0:0:0:1,4:25,133:0.00,14.12:0.00,0.00:0.00,14.12:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,33.2:0,0:0,0:146,84:5,67:0,19:-,NM_152493.2(ZNF362) c.1146+295C>T:-,0.55:-,NOT_FOUND 1 33761211 rs77244502 C CAG 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4661,CAG/0.5339;DB;DBA=NA;PAF=C/0.4661,CAG/0.5339;NP=2;Gene=ZNF362/NM_152493.2/1;CC=c.1146+311_1146+312dupGA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CAG:4:0:4:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:33.2:0:0:94:57:19:NM_152493.2(ZNF362) c.1146+305_1146+306insAG,NM_152493.2(ZNF362) c.1146+305_1146+306insAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 33764648 . G . . NT END=33772366;NT GT ./. 1 33773055 . C . . NT END=33777652;NT GT ./. 1 33777524 rs6679416 T C 131 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.275,C/0.725;Gene=A3GALT2/NM_001080438.1/1;CC=c.335+129A>G;VC=Intron;DM=A3GALT2/Glyco_transf_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:34:0:0:34:1144:130.57:122.62:7.95:1.00:1.00:1.00:60:36.2:0:0:45:105:33:chr1 g.33777523T>C (intergenic),chr1 g.33777523T>C (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 1 33777791 . C . . NT END=33778101;NT GT ./. 1 33778192 . C . . NT END=33778407;NT GT ./. 1 33778226 rs12563102 G A 94 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.6076,A/0.3924;PC=0.059;Gene=A3GALT2/NM_001080438.1/1;CC=c.108-35C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:39:0:0:30,29:978,957:94.35,0.00:43.29,0.00:51.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,11.3:0,0:0,0:105,87:41,55:31,26:chr1 g.33778225G>A (intergenic),-:0.38,-:0.406804,- 1 33778492 . C . . NT END=33786676;NT GT ./. 1 33778591 rs6664593 T C 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2782,C/0.7218;Gene=A3GALT2/NM_001080438.1/1;CC=c.24-100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:424:49.52:0.00:49.52:1.00:0.00:1.00:60:42.5:0:0:77:74:27:chr1 g.33778590T>C (intergenic),chr1 g.33778590T>C (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 1 33786700 . A . . NT END=33790465;NT GT ./. 1 33790496 rs11554674 G A 225 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.8271,A/0.1729;PC=0.027;Gene=PHC2/NM_004427.3/0;CC=c.942C>T;ProtCh=p.Y314=;VC=Silent;Gene=PHC2/NM_198040.2/1;CC=c.2547C>T;ProtCh=p.Y849=;VC=Silent;DM=PHC2/SAM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:139:114:0:0:72,67:2322,2168:224.64,0.00:148.40,0.00:76.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,4.0:0,0:0,0:60,63:78,88:31,26:NM_198040.2(PHC2) c.2547C>T (p.(=)),-:0.17,-:0.180917,- 1 33790621 . C . . NT END=33794470;NT GT ./. 1 33794748 . C . . NT END=33795671;NT GT ./. 1 33794852 rs12040040 C T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8287,T/0.1713;Gene=PHC2/NM_004427.3/0;CC=c.541-105G>A;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.2146-105G>A;VC=Intron;DM=PHC2/PHC2_SAM_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:21:5:0:0:6,15:137,459:0.00,47.69:0.00,7.53:0.00,40.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:69.3,73.2:0,0:0,0:63,102:86,48:51,27:-,NM_198040.2(PHC2) c.2146-105G>A:-,0.17:-,NOT_FOUND 1 33794853 rs7551448 A G 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.001997,G/0.998;NP=2762;Gene=PHC2/NM_004427.3/0;CC=c.541-106T>C;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.2146-106T>C;VC=Intron;DM=PHC2/PHC2_SAM_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:5:0:0:21:676:77.58:13.02:64.57:1.00:1.00:1.00:60:72.1:0:0:110:41:28:NM_198040.2(PHC2) c.2146-106T>C,NM_198040.2(PHC2) c.2146-106T>C:1,1:NOT_FOUND,NOT_FOUND 1 33795531 rs4653043 G C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6084,A/.,C/0.3916;Gene=PHC2/NM_004427.3/0;CC=c.540+141C>G;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.2145+141C>G;VC=Intron;DM=PHC2/PHC2_SAM_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:26:26:0:0:10,16:325,451:29.78,0.00:29.78,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.4,12.2:0,0:0,0:64,31:86,120:39,20:NM_198040.2(PHC2) c.2145+141C>G,-:0.38,-:NOT_FOUND,- 1 33795814 . C . . NT END=33796948;NT GT ./. 1 33796081 rs4653044 A C 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.524,C/0.476;Gene=PHC2/NM_004427.3/0;CC=c.399-268T>G;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.2004-268T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,C:5:0:0:0:1,4:33,112:0.00,11.99:0.00,0.00:0.00,11.99:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,28.0:0,0:0,0:61,33:90,116:0,19:-,NM_198040.2(PHC2) c.2004-268T>G:-,0.46:-,NOT_FOUND 1 33797064 . C . . NT END=33797875;NT GT ./. 1 33798006 . C . . NT END=33799690;NT GT ./. 1 33799548 rs12044118 C T 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8287,T/0.1713;Gene=PHC2/NM_004427.3/0;CC=c.153+143G>A;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.1758+143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:13:13:0:0:4,9:139,250:0.00,25.78:0.00,25.78:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.8,27.8:0,0:0,0:41,48:109,102:4,22:-,NM_198040.2(PHC2) c.1758+143G>A:-,0.17:-,NOT_FOUND 1 33799658 . TA T 17 rn VT=DEL;SST=Single;DP=62;NP=30;PC=0.996;Gene=PHC2/NM_004427.3/0;CC=c.153+32delT;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.1758+32delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:TA,I,T:62:57:2:7:53,2,7:1548,59,231:0.00,3.13,17.07:0.00,1.32,11.87:0.00,1.81,5.20:0.00,0.00,0.90:0.00,0.00,0.99:0.00,0.00,0.81:60,60,60:15.9,18.5,1.9:0,0,0:0,0,0:40,44,46:111,93,99:29,16,23:-,NM_198040.2(PHC2) c.1758+32delT:-,NOT_FOUND:-,NOT_FOUND 1 33799894 . C . . NT END=33800766;NT GT ./. 1 33799900 rs12734630 G A 118 nt VT=SNV;PN=C;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.8289,A/0.1711;PC=0.003;Gene=PHC2/NM_004427.3/0;CC=c.-50-7C>T;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.1556-7C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:39:0:0:39,50:1256,1607:117.76,0.00:31.87,0.00:85.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,8.2:0,0:0,0:101,87:35,57:22,20:NM_198040.2(PHC2) c.1556-7C>T,-:0.17,-:0.177072,- 1 33800961 . C . . NT END=33811085;NT GT ./. 1 33801138 rs4338326 C T 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7021,T/0.2979;Gene=PHC2/NM_004427.3/0;CC=c.-50-1245G>A;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.1556-1245G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:7,8:206,238:0.00,23.10:0.00,0.00:0.00,23.10:0.00,1.00:0.00,0.00:0.00,1.00:60,60:28.4,31.0:0,0:0,0:99,124:46,26:18,13:-,NM_198040.2(PHC2) c.1556-1245G>A:-,0.27:-,NOT_FOUND 1 33811079 rs4575048 A G 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.6102,G/0.3898;PC=0.014;Gene=PHC2/NM_004427.3/0;CC=c.-51+4119T>C;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.1555+8923T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:32:0:0:21,13:678,447:0.00,41.08:0.00,34.80:0.00,6.28:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.6,38.1:0,0:0,0:42,24:108,121:14,10:-,NM_198040.2(PHC2) c.1555+8923T>C:-,0.37:-,NOT_FOUND 1 33812084 rs10753281 T A 142 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.61,A/0.39;PC=0.004;Gene=PHC2/NM_004427.3/0;CC=c.-51+3114A>T;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.1555+7918A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:92:54:0:0:46,46:1478,1403:142.11,0.00:78.07,0.00:64.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,8.9:0,0:0,0:78,86:68,64:30,33:NM_198040.2(PHC2) c.1555+7918A>T,-:0.37,-:NOT_FOUND,- 1 33813334 . A . . NT END=33814653;NT GT ./. 1 33814830 . T . . NT END=33814865;NT GT ./. 1 33814861 rs57572490 C G 260 nt VT=SNV;PN=A;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=C/0.5958,G/0.4042;Gene=PHC2/NM_004427.3/0;CC=c.-51+337G>C;VC=Intron;Gene=PHC2/NM_198040.2/1;CC=c.1555+5141G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:163:118:0:0:76,86,1:2410,2681,12:0.00,260.37,-0.10:0.00,143.98,-0.11:0.00,116.39,0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.5,41.7,96.0:0,0,0:0,0,0:76,64,24:71,78,127:39,33,0:-,NM_198040.2(PHC2) c.1555+5141G>C:-,0.38:-,NOT_FOUND 1 33815104 . A . . NT END=33815197;NT GT ./. 1 33815500 . C . . NT END=33820001;NT GT ./. 1 33815565 . A G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;PC=0.197;Gene=PHC2/NM_198040.2/1;CC=c.1555+4437T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G,T:29:22:0:0:23,5,1:730,103,11:0.00,7.01,-0.01:0.00,-1.39,0.08:0.00,8.40,-0.09:0.00,0.80,0.00:0.00,0.96,0.00:0.00,0.89,0.00:60,60,60:25.3,145.6,11.0:0,0,0:0,0,0:121,41,96:28,94,55:15,8,0:-,NM_198040.2(PHC2) c.1555+4437T>C:-,NOT_FOUND:-,NOT_FOUND 1 33819814 rs4653080 T G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6116,G/0.3884;Gene=PHC2/NM_198040.2/1;CC=c.1555+188A>C;VC=Intron;Gene=LOC101929464/NR_125978.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:17:17:0:0:8,9:234,254:22.11,0.00:22.11,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:71.5,42.6:0,0:0,0:26,68:124,83:17,35:NM_198040.2(PHC2) c.1555+188A>C,-:0.37,-:NOT_FOUND,- 1 33819830 rs4653081 A C 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.2712,C/0.7288;Gene=PHC2/NM_198040.2/1;CC=c.1555+172T>G;VC=Intron;Gene=LOC101929464/NR_125978.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:534:61.87:61.87:0.00:1.00:1.00:0.00:60:57.1:0:0:46:98:29:NM_198040.2(PHC2) c.1555+172T>G,NM_198040.2(PHC2) c.1555+172T>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 33820134 rs12026290 C T 160 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.8285,T/0.1715;PC=0.024;Gene=PHC2/NM_198040.2/1;CC=c.1423G>A;ProtCh=p.V475M;VC=Missense;Gene=LOC101929464/NR_125978.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:55:0:0:49,51:1599,1656:0.00,159.81:0.00,70.39:0.00,89.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,41.0:0,0:0,0:56,81:88,69:26,32:-,NM_198040.2(PHC2) c.1423G>A (p.Val475Met):-,0.17:-,0.177072 1 33820168 . C . . NT END=33820438;NT GT ./. 1 33820855 . C . . NT END=33829335;NT GT ./. 1 33829082 rs4271176 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.001797,T/0.9982;NP=49;Gene=PHC2/NM_198040.2/1;CC=c.976+3635G>A;VC=Intron;DM=PHC2/PHC2_SAM_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:146:16.98:16.98:0.00:1.00:1.00:0.00:60:60.8:0:0:45:106:28:NM_198040.2(PHC2) c.976+3635G>A,NM_198040.2(PHC2) c.976+3635G>A:1,1:NOT_FOUND,NOT_FOUND 1 33829521 . G . . NT END=33832716;NT GT ./. 1 33829937 rs7545146 G A,C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3988,A/0.6012;DM=PHC2/PHC2_SAM_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:16:A,C:4:2:0:0:3,1:92,21:10.25,1.98:3.55,0.00:6.70,1.98:0.85,0.00:0.95,0.00:0.85,0.00:60,60:44.7,21.0:0,0:0,0:42,30:109,121:13,0:NM_198040.2(PHC2) c.976+2780C>T,NM_198040.2(PHC2) c.976+2780C>G:0.58,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 33830011 rs7535051 A ACACG 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=173;NP=5;NP=7;Gene=PHC2/NM_198040.2/1;CC=c.976+2705_976+2706insCGTG;VC=Intron;DM=PHC2/PHC2_SAM_assoc;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:ACACG:3:2:4:0:3:133:10.96:3.70:7.25:0.85:0.95:0.85:60:27.7:1:0:101:48:8:NM_198040.2(PHC2) c.976+2705_976+2706insCGTG,NM_198040.2(PHC2) c.976+2705_976+2706insCGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 33832457 rs4653106 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.001797,G/.,T/0.9982;NP=242;Gene=PHC2/NM_198040.2/1;CC=c.976+260G>A;VC=Intron;DM=PHC2/PHC2_SAM_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:149:17.28:17.28:0.00:1.00:1.00:0.00:60:50.8:0:0:33:117:12:NM_198040.2(PHC2) c.976+260G>A,NM_198040.2(PHC2) c.976+260G>A:1,1:NOT_FOUND,NOT_FOUND 1 33832865 rs6425816 A G 381 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.2718,G/0.7282;PC=0.772;Gene=PHC2/NM_198040.2/1;CC=c.828T>C;ProtCh=p.P276=;VC=Silent;DM=PHC2/PHC2_SAM_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:108:62:0:0:108:3293:380.67:167.99:212.68:1.00:1.00:1.00:60:41.0:0:0:61:88:34:NM_198040.2(PHC2) c.828T>C (p.(=)),NM_198040.2(PHC2) c.828T>C (p.(=)):0.71,0.71:0.729817,0.729817 1 33833030 . C . . NT END=33834136;NT GT ./. 1 33833994 rs12727428 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8283,A/0.1717;PC=0.010;Gene=PHC2/NM_198040.2/1;CC=c.663+143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,G:7:7:0:0:5,2:151,50:15.65,0.00:15.65,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:31.8,0.0:0,0:0,0:73,51:78,100:25,34:NM_198040.2(PHC2) c.663+143C>T,-:0.17,-:NOT_FOUND,- 1 33834224 . C . . NT END=33836021;NT GT ./. 1 33836187 . C . . NT END=33836617;NT GT ./. 1 33836696 . C . . NT END=33837889;NT GT ./. 1 33836796 rs7545416 C G 151 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.2712,G/0.7288;Gene=PHC2/NM_198040.2/1;CC=c.334-101G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:G:40:4:0:0:40:1322:151.22:7.95:143.27:1.00:1.00:1.00:60:44.9:0:0:97:54:34:NM_198040.2(PHC2) c.334-101G>C,NM_198040.2(PHC2) c.334-101G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 33838049 . C . . NT END=33840966;NT GT ./. 1 33840795 rs10914693 T G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8446,G/0.1554;Gene=PHC2/NM_198040.2/1;CC=c.174+172A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:G,T:8:8:0:0:3,5:93,137:8.44,0.00:8.44,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:93.7,1.8:0,0:0,0:83,11:68,138:54,7:NM_198040.2(PHC2) c.174+172A>C,-:0.14,-:NOT_FOUND,- 1 33841141 . G . . NT END=33944889;NT GT ./. 1 33841352 rs10737369 A C 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.2712,C/0.7288 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:0:0:0:21:716:81.62:0.00:81.62:1.00:0.00:1.00:60:36.9:0:0:112:38:26:NM_198040.2(PHC2) c.-54-u158T>G,NM_198040.2(PHC2) c.-54-u158T>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 33879778 . TCA T,TCACA 9 sb;idl,nt VT=DEL;SST=Single;DP=8;NP=47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:26:TCA,TCACA,T:7:6:3:3:2,2,3:41,99,97:0.00,6.21,9.46:0.00,6.21,1.13:0.00,0.00,8.33:0.00,0.00,0.67:0.00,0.00,0.93:0.00,0.00,0.90:60,60,60:75.5,5.5,2.7:0,1,0:0,0,0:80,69,97:70,62,54:42,6,0:chr1 g.33879779_33879780delCA (intergenic),chr1 g.33879779_33879780dupCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 33945192 rs16835507 T A 326 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=212;DB;DBA=NA;PAF=T/0.9313,A/0.06869;Gene=ZSCAN20/NM_145238.3/1;CC=c.303T>A;ProtCh=p.T101=;VC=Silent;DM=ZSCAN20/SCAN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:212:134:0:0:110,1,101:3374,12,3336:326.13,-0.13,0.00:161.17,-0.11,0.00:164.96,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.7,81.0,6.5:0,0,0:0,0,0:93,6,85:56,144,64:38,0,37:NM_145238.3(ZSCAN20) c.303T>A (p.(=)),-:0.08,-:0.129556,- 1 33945307 . G . . NT END=33954064;NT GT ./. 1 33954252 . G . . NT END=33954714;NT GT ./. 1 33954352 rs3795418 A G 48 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.2462,G/0.7538;PC=0.001;Gene=ZSCAN20/NM_145238.3/1;CC=c.604+101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:3:0:0:17,17:598,506:0.00,48.43:0.00,5.16:0.00,43.27:0.00,1.00:0.00,0.89:0.00,1.00:60,60:2.9,46.6:0,0:0,0:65,94:85,57:35,42:-,NM_145238.3(ZSCAN20) c.604+101A>G:-,0.75:-,NOT_FOUND 1 33954469 rs397841416 AG A 26 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=AG/0.2474,A/0.7526;DB;DBA=NA;PAF=AG/0.2474,A/0.7526;NP=1071;Gene=ZSCAN20/NM_145238.3/1;CC=c.604+220delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:18:10:0:8:10,8:315,271:0.00,25.56:0.00,12.38:0.00,13.18:0.00,0.99:0.00,0.99:0.00,0.98:60,60:21.4,9.9:0,0:0,0:79,65:72,85:45,31:-,NM_145238.3(ZSCAN20) c.604+219delG:-,0.75:-,NOT_FOUND 1 33954792 . G . . NT END=33955117;NT GT ./. 1 33955203 . G . . NT END=33956624;NT GT ./. 1 33957152 rs4403594 T G 760 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=204;DB;DBA=NA;PAF=T/0.0007987,G/0.9992;NP=3459;PC=1.000;Gene=ZSCAN20/NM_145238.3/1;CC=c.1294T>G;ProtCh=p.Y432D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:204:125:0:0:1,203:34,6635:1.59,759.70:1.59,323.74:0.00,435.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,39.6:0,0:0,0:81,69:69,75:0,36:NM_145238.3(ZSCAN20) c.=,NM_145238.3(ZSCAN20) c.=:1,1:0.997704,0.997704 1 33957303 . G . . NT END=33958786;NT GT ./. 1 33959216 . G . . NT END=33959817;NT GT ./. 1 33960062 rs9943259 A G 189 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=A/0.2474,G/0.7526;Gene=ZSCAN20/NM_145238.3/1;CC=c.2118A>G;ProtCh=p.A706=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:162:99:0:0:95,67:3208,2051:0.00,189.25:0.00,90.02:0.00,99.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,41.3:0,0:0,0:79,70:70,79:33,31:-,NM_145238.3(ZSCAN20) c.2118A>G (p.(=)):-,0.75:-,0.805375 1 33961077 . G . . NT END=33985117;NT GT ./. 1 33961147 rs3795420 T G 87 nt VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.2472,G/0.7528;PC=0.240;Gene=ZSCAN20/NM_145238.3/1;CC=c.*71T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:61:12:0:0:28,33:917,1029:86.76,0.00:15.29,0.00:71.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,8.8:0,0:0,0:97,106:47,38:30,40:NM_145238.3(ZSCAN20) c.*71T>G,-:0.75,-:NOT_FOUND,- 1 33985278 . C . . NT END=33985411;NT GT ./. 1 33985551 . C . . NT END=33987062;NT GT ./. 1 33987151 . C . . NT END=33988906;NT GT ./. 1 33989020 . C . . NT END=33990481;NT GT ./. 1 33990644 . C . . NT END=33992795;NT GT ./. 1 33992859 . C . . NT END=33998649;NT GT ./. 1 33998830 . C . . NT END=33999395;NT GT ./. 1 33999508 . C . . NT END=34002621;NT GT ./. 1 34002462 rs148539060 T C 9 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.995,C/0.004992;NP=24;PC=0.001;Gene=CSMD2/NM_001281956.1/1;CC=c.9879+160A>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.9447+160A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:6:6:0:0:3,3:96,91:9.23,0.00:9.23,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:72.0,0.0:0,0:0,0:5,77:146,74:2,49:NM_052896.3(CSMD2) c.9447+160A>G,-:0.01,-:NOT_FOUND,- 1 34002696 . C . . NT END=34003035;NT GT ./. 1 34003210 . C . . NT END=34006124;NT GT ./. 1 34006299 . C . . NT END=34006729;NT GT ./. 1 34006910 . C . . NT END=34008319;NT GT ./. 1 34008497 . C . . NT END=34011636;NT GT ./. 1 34011820 . C . . NT END=34015776;NT GT ./. 1 34015951 . C . . NT END=34023333;NT GT ./. 1 34023523 . C . . NT END=34024899;NT GT ./. 1 34023749 rs915108 T C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1827,C/0.8173;Gene=CSMD2/NM_001281956.1/1;CC=c.8555-227A>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.8312-7799A>G;VC=Intron;DM=CSMD2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:5:0:0:0:3,2:101,68:10.07,0.00:0.00,0.00:10.07,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:33.7,0.0:0,0:0,0:78,102:73,47:19,10:NM_052896.3(CSMD2) c.8312-7799A>G,-:0.81,-:NOT_FOUND,- 1 34025074 . C . . NT END=34033192;NT GT ./. 1 34033022 rs60551965 AG A 81 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=AG/0.7786,A/0.2214;NP=45;PC=0.002;Gene=CSMD2/NM_001281956.1/1;CC=c.8380+170delC;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.8311+170delC;VC=Intron;DM=CSMD2/Sushi;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:AG,A:24:24:0:23:1,23:9,719:0.00,81.38:0.00,81.38:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:76.0,18.3:0,0:0,0:72,50:78,100:0,36:NM_052896.3(CSMD2) c.8311+170delC,NM_052896.3(CSMD2) c.8311+170delC:0.2,0.2:NOT_FOUND,NOT_FOUND 1 34033060 rs11330003 GA G 92 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=61;Gene=CSMD2/NM_001281956.1/1;CC=c.8380+132delT;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.8311+132delT;VC=Intron;DM=CSMD2/Sushi;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:GA,G:31:30:0:28:3,28:74,827:0.00,91.82:0.00,88.48:0.00,3.33:0.00,1.00:0.00,1.00:0.00,0.93:60,60:45.0,14.2:0,0:0,0:142,49:8,101:7,29:-,NM_052896.3(CSMD2) c.8311+132delT:-,NOT_FOUND:-,NOT_FOUND 1 34033442 . C . . NT END=34034973;NT GT ./. 1 34033512 rs6703172 G C 213 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.7774,C/0.2226;Gene=CSMD2/NM_001281956.1/1;CC=c.8132-71C>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.8138-146C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:C:56:10:0:0:56:1863:212.94:27.24:185.70:1.00:1.00:1.00:60:44.3:0:0:116:33:21:NM_052896.3(CSMD2) c.8138-146C>G,NM_052896.3(CSMD2) c.8138-146C>G:0.2,0.2:NOT_FOUND,NOT_FOUND 1 34033636 rs66808281 G A 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7768,A/0.2232;PC=0.545;Gene=CSMD2/NM_001281956.1/1;CC=c.8132-195C>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.8138-270C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:337:38.94:0.00:38.94:1.00:0.00:1.00:60:51.3:0:0:112:35:36:NM_052896.3(CSMD2) c.8138-270C>T,NM_052896.3(CSMD2) c.8138-270C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 1 34035148 . C . . NT END=34037131;NT GT ./. 1 34035400 rs1690552 C G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1358,G/0.8642,T/.;Gene=CSMD2/NM_001281956.1/1;CC=c.7958-253G>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.7964-253G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:0:0:0:7:200:23.26:0.00:23.26:1.00:0.00:1.00:60:35.9:0:0:115:36:28:NM_052896.3(CSMD2) c.7964-253G>C,NM_052896.3(CSMD2) c.7964-253G>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 34037327 . C . . NT END=34038105;NT GT ./. 1 34037991 rs553012536 G GT 14 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=CSMD2/NM_001281956.1/1;CC=c.7762+114dupA;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.7768+114dupA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,GT,D:24:24:6:5:14,5,5:464,193,154:0.00,13.54,12.94:0.00,13.68,13.08:0.00,-0.14,-0.14:0.00,0.83,0.00:0.00,0.98,0.00:0.00,0.47,0.00:60,60,70:42.6,56.0,7.8:0,1,0:0,0,0:45,48,35:106,102,116:35,15,31:-,NM_052896.3(CSMD2) c.7768+114_7768+115insA:-,NOT_FOUND:-,NOT_FOUND 1 34038292 . C . . NT END=34042895;NT GT ./. 1 34042810 rs1389560 A G 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.651,G/0.349;Gene=CSMD2/NM_001281956.1/1;CC=c.7576+86T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.7582+86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:45:0:0:25,21:819,571:0.00,53.20:0.00,45.17:0.00,8.03:0.00,1.00:0.00,1.00:0.00,0.97:60,60:12.8,56.2:0,0:0,0:33,28:118,117:29,14:-,NM_052896.3(CSMD2) c.7582+86T>C:-,0.33:-,NOT_FOUND 1 34043085 . C . . NT END=34046352;NT GT ./. 1 34043169 rs11291100 TC T 90 rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=2807;Gene=CSMD2/NM_001281956.1/1;CC=c.7388-86delG;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.7394-86delG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:TC,T:33:6:0:28:6,27:180,838:0.00,89.88:0.00,12.29:0.00,77.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.5,1.9:0,0:0,0:147,117:3,34:1,19:-,NM_052896.3(CSMD2) c.7394-86delG:-,1:-,NOT_FOUND 1 34046066 rs292809 A G 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5689,G/0.4311;Gene=CSMD2/NM_001281956.1/1;CC=c.7387+287T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.7393+287T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:8:0:0:8:183:22.00:22.00:0.00:1.00:1.00:0.00:60:74.5:0:0:37:111:17:NM_052896.3(CSMD2) c.7393+287T>C,NM_052896.3(CSMD2) c.7393+287T>C:0.41,0.41:NOT_FOUND,NOT_FOUND 1 34046500 . C . . NT END=34049241;NT GT ./. 1 34046646 rs292808 C A 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6254,A/0.3746;Gene=CSMD2/NM_001281956.1/1;CC=c.7241-147G>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.7247-147G>T;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:A,C:17:0:0:0:16,1:494,10:55.53,0.00:0.00,0.00:55.53,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.8,13.0:0,0:0,0:98,107:53,44:23,0:NM_052896.3(CSMD2) c.7247-147G>T,NM_052896.3(CSMD2) c.7247-147G>T:0.37,0.37:NOT_FOUND,NOT_FOUND 1 34049431 . C . . NT END=34052103;NT GT ./. 1 34052218 . C . . NT END=34052687;NT GT ./. 1 34052403 rs6425831 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4561,G/0.5439;Gene=CSMD2/NM_001281956.1/1;CC=c.6938-186T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6944-186T>C;VC=Intron;DM=CSMD2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:13:2:0:0:10,3:310,97:0.00,8.09:0.00,-0.23:0.00,8.32:0.00,0.58:0.00,0.51:0.00,0.91:60,60:23.8,35.7:0,0:0,0:89,137:61,13:39,2:-,NM_052896.3(CSMD2) c.6944-186T>C:-,0.56:-,NOT_FOUND 1 34052605 rs7526990 A G 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3027,G/0.6973;Gene=CSMD2/NM_001281956.1/1;CC=c.6937+83T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6943+83T>C;VC=Intron;DM=CSMD2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:16:15:0:0:16:425:49.72:43.61:6.12:1.00:1.00:1.00:60:37.1:0:0:51:100:41:NM_052896.3(CSMD2) c.6943+83T>C,NM_052896.3(CSMD2) c.6943+83T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 34052769 . C . . NT END=34066464;NT GT ./. 1 34066611 . C . . NT END=34067968;NT GT ./. 1 34068147 . C . . NT END=34070881;NT GT ./. 1 34068308 rs72662026 T G 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.9034,G/0.09665;Gene=CSMD2/NM_001281956.1/1;CC=c.6533-162A>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6539-162A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:0:0:0:14,7:438,224:44.65,0.00:0.00,0.00:44.65,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.4,19.9:0,0:0,0:88,91:62,60:27,12:NM_052896.3(CSMD2) c.6539-162A>C,-:0.1,-:NOT_FOUND,- 1 34068364 rs1493988 G T 12 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4475,T/0.5525;PC=0.007;Gene=CSMD2/NM_001281956.1/1;CC=c.6533-218C>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6539-218C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:G,T:12:0:0:0:8,4:239,133:0.00,11.89:0.00,0.00:0.00,11.89:0.00,0.80:0.00,0.00:0.00,0.80:60,60:44.1,33.2:0,0:0,0:122,145:28,6:22,1:-,NM_052896.3(CSMD2) c.6539-218C>A:-,0.55:-,NOT_FOUND 1 34070826 rs12733436 G A 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.4565,A/0.5435;Gene=CSMD2/NM_001281956.1/1;CC=c.6532+56C>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6538+56C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:38:0:0:17,25:518,800:47.55,0.00:39.24,0.00:8.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,6.2:0,0:0,0:51,35:97,116:17,22:NM_052896.3(CSMD2) c.6538+56C>T,-:0.55,-:NOT_FOUND,- 1 34071071 . C . . NT END=34071462;NT GT ./. 1 34071434 rs1874044 C T 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.4722,T/0.5278;Gene=CSMD2/NM_001281956.1/1;CC=c.6344-364G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6349+29G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:28:0:0:19,13:641,432:0.00,40.01:0.00,30.95:0.00,9.07:0.00,1.00:0.00,1.00:0.00,0.98:60,60:0.4,64.3:0,0:0,0:62,70:89,81:36,19:-,NM_052896.3(CSMD2) c.6349+29G>A:-,0.54:-,0.520529 1 34071525 rs1874045 C T 49 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.4816,T/0.5184;PC=0.056;Gene=CSMD2/NM_001281956.1/1;CC=c.6344-455G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6287G>A;ProtCh=p.R2096K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:42:0:0:36,19:1142,557:0.00,49.37:0.00,28.17:0.00,21.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,56.8:0,0:0,0:59,79:91,66:30,33:-,NM_052896.3(CSMD2) c.6287G>A (p.Arg2096Lys):-,0.54:-,0.514916 1 34071589 . C . . NT END=34076640;NT GT ./. 1 34071865 rs6425832 C T 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3103,T/0.6897;Gene=CSMD2/NM_001281956.1/1;CC=c.6344-795G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6224-277G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:368:42.49:0.00:42.49:1.00:0.00:1.00:60:53.8:0:0:112:38:31:NM_052896.3(CSMD2) c.6224-277G>A,NM_052896.3(CSMD2) c.6224-277G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 34071898 rs7542533 C A 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.482,A/0.518;PC=0.045;Gene=CSMD2/NM_001281956.1/1;CC=c.6344-828G>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6224-310G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,C:7:0:0:0:4,3:111,94:10.93,0.00:0.00,0.00:10.93,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:81.2,41.7:0,0:0,0:111,114:39,37:18,32:NM_052896.3(CSMD2) c.6224-310G>T,-:0.53,-:NOT_FOUND,- 1 34076851 . C . . NT END=34080103;NT GT ./. 1 34077032 rs74524074 G T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9844,T/0.01558;PC=0.025;Gene=CSMD2/NM_001281956.1/1;CC=c.6134-182C>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.6014-182C>A;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:G,T:10:0:0:0:4,6:124,204:0.00,20.34:0.00,0.00:0.00,20.34:0.00,0.99:0.00,0.00:0.00,0.99:60,60:5.2,61.8:0,0:0,0:53,113:97,38:29,24:-,NM_052896.3(CSMD2) c.6014-182C>A:-,0.01:-,NOT_FOUND 1 34080221 . C . . NT END=34082505;NT GT ./. 1 34082279 rs10914755 G A 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7296,A/0.2704;Gene=CSMD2/NM_001281956.1/1;CC=c.6016+227C>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.5896+227C>T;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,G:4:4:0:0:2,2:67,46:6.46,0.00:6.46,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:39.5,19.5:0,0:0,0:44,55:106,96:14,33:NM_052896.3(CSMD2) c.5896+227C>T,-:0.24,-:NOT_FOUND,- 1 34082576 . C . . NT END=34083098;NT GT ./. 1 34083218 . C . . NT END=34087766;NT GT ./. 1 34087872 . C . . NT END=34088969;NT GT ./. 1 34089067 . C . . NT END=34090118;NT GT ./. 1 34090244 . C . . NT END=34090650;NT GT ./. 1 34090855 . C . . NT END=34092085;NT GT ./. 1 34092182 . C . . NT END=34099021;NT GT ./. 1 34098959 rs604782 C G 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.7973,G/0.2027;PC=0.010;Gene=CSMD2/NM_001281956.1/1;CC=c.5200+63G>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.5080+63G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:30:24:0:0:13,17:429,538:0.00,52.96:0.00,40.32:0.00,12.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,57.1:0,0:0,0:36,70:115,78:26,35:-,NM_052896.3(CSMD2) c.5080+63G>C:-,0.2:-,NOT_FOUND 1 34099136 . C . . NT END=34100813;NT GT ./. 1 34100931 . C . . NT END=34101959;NT GT ./. 1 34102155 . C . . NT END=34112247;NT GT ./. 1 34110944 rs375868568 TACACAC T 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;Gene=CSMD2/NM_001281956.1/1;CC=c.4774+1298_4774+1303delGTGTGT;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.4654+1298_4654+1303delGTGTGT;VC=Intron;DM=CSMD2/Sushi;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TACACAC,T:4:4:0:3:1,3:34,100:0.00,10.45:0.00,7.10:0.00,3.35:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,4.3:0,0:0,0:95,49:55,90:0,23:-,NM_052896.3(CSMD2) c.4654+1298_4654+1303delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 34112303 rs10798976 G A 138 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.8932,A/0.1068;PC=0.003;Gene=CSMD2/NM_001281956.1/1;CC=c.4719C>T;ProtCh=p.L1573=;VC=Silent;Gene=CSMD2/NM_052896.4/0;CC=c.4599C>T;ProtCh=p.L1533=;VC=Silent;DM=CSMD2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:99:70:0:0:45,1,53:1461,10,1711:138.18,-0.13,0.00:86.32,-0.11,0.00:51.86,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.4,30.0,8.9:0,0,0:0,0,0:62,113,75:80,38,66:39,0,30:NM_052896.3(CSMD2) c.4599C>T (p.(=)),-:0.1,-:0.074504,- 1 34112436 . C . . NT END=34117922;NT GT ./. 1 34118062 . C . . NT END=34123545;NT GT ./. 1 34123588 rs532612359 C T 165 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=1;PC=0.990;Gene=CSMD2/NM_001281956.1/1;CC=c.4405G>A;ProtCh=p.E1469K;VC=Missense;Gene=CSMD2/NM_052896.4/0;CC=c.4285G>A;ProtCh=p.E1429K;VC=Missense;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:73:0:0:50,52:1603,1713:0.00,165.44:0.00,96.44:0.00,69.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,38.8:0,0:0,0:68,69:75,78:31,32:-,NM_052896.3(CSMD2) c.4285G>A (p.Glu1429Lys):-,NOT_FOUND:-,NOT_FOUND 1 34123738 . C . . NT END=34128489;NT GT ./. 1 34128693 . C . . NT END=34158529;NT GT ./. 1 34158472 rs12757315 C T 93 nt VT=SNV;PN=G;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.6552,T/0.3448;PC=0.001;Gene=CSMD2/NM_001281956.1/1;CC=c.4052+58G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.3932+58G>A;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:57:0:0:32,32:1130,972:0.00,93.15:0.00,66.94:0.00,26.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,65.9:0,0:0,0:41,31:97,118:34,16:-,NM_052896.3(CSMD2) c.3932+58G>A:-,0.34:-,NOT_FOUND 1 34158482 rs12757320 C T 102 nt VT=SNV;PN=G;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.6552,T/0.3448;Gene=CSMD2/NM_001281956.1/1;CC=c.4052+48G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.3932+48G>A;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:60:0:0:34,34:1196,1065:0.00,102.22:0.00,73.35:0.00,28.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,64.0:0,0:0,0:42,38:106,113:26,16:-,NM_052896.3(CSMD2) c.3932+48G>A:-,0.34:-,0.340766 1 34158657 . C . . NT END=34164352;NT GT ./. 1 34164286 rs1887918 A G 81 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6324,G/0.3676;PC=0.005;Gene=CSMD2/NM_001281956.1/1;CC=c.3925+67T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.3805+67T>C;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:41:0:0:17,27:534,810:0.00,81.07:0.00,62.23:0.00,18.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,48.3:0,0:0,0:38,33:113,118:22,23:-,NM_052896.3(CSMD2) c.3805+67T>C:-,0.37:-,NOT_FOUND 1 34164545 . C . . NT END=34166116;NT GT ./. 1 34166274 . C . . NT END=34174688;NT GT ./. 1 34173293 rs59384067 GCGCACACACACACACACACACA G 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=CSMD2/NM_001281956.1/1;CC=c.3576+1374_3576+1395delTGTGTGTGTGTGTGTGTGTGCG;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.3456+1374_3456+1395delTGTGTGTGTGTGTGTGTGTGCG;VC=Intron;DM=CSMD2/CUB;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GCGCACACACACACACACACACA,G:5:4:0:3:2,3:67,93:0.00,9.27:0.00,6.61:0.00,2.66:0.00,0.78:0.00,0.97:0.00,0.94:60,70:20.0,8.3:0,0:0,0:42,42:97,108:19,4:-,NM_052896.3(CSMD2) c.3456+1374_3456+1395delTGTGTGTGTGTGTGTGTGTGCG:-,NOT_FOUND:-,NOT_FOUND 1 34174859 . C . . NT END=34180186;NT GT ./. 1 34180376 . C . . NT END=34181885;NT GT ./. 1 34182102 . C . . NT END=34189796;NT GT ./. 1 34189914 . C . . NT END=34190116;NT GT ./. 1 34189917 rs519370 C T 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.2103,T/0.7897;Gene=CSMD2/NM_001281956.1/1;CC=c.2885-4G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.2765-4G>A;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:49:0:0:33,26:1102,825:0.00,77.32:0.00,49.73:0.00,27.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,35.5:0,0:0,0:74,78:61,65:19,25:-,NM_052896.3(CSMD2) c.2765-4G>A:-,0.79:-,0.682531 1 34189957 rs11346874 AG A 158 nt VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=3362;PC=0.025;Gene=CSMD2/NM_001281956.1/1;CC=c.2885-45delC;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.2765-45delC;VC=Intron;DM=CSMD2/CUB;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:AG,A:50:43:0:46:4,46:132,1419:0.00,157.75:0.00,114.57:0.00,43.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,22.0:0,0:0,0:139,90:4,60:7,29:-,NM_052896.3(CSMD2) c.2765-45delC:-,1:-,NOT_FOUND 1 34190306 . C . . NT END=34190949;NT GT ./. 1 34191138 . C . . NT END=34192147;NT GT ./. 1 34192287 . C . . NT END=34204740;NT GT ./. 1 34204503 rs537409 A G 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=145;PC=0.049;Gene=CSMD2/NM_001281956.1/1;CC=c.2368+238T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.2248+238T>C;VC=Intron;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:299:34.60:34.60:0.00:1.00:1.00:0.00:60:39.1:0:0:69:82:34:NM_052896.3(CSMD2) c.2248+238T>C,NM_052896.3(CSMD2) c.2248+238T>C:1,1:NOT_FOUND,NOT_FOUND 1 34204936 . C . . NT END=34208880;NT GT ./. 1 34205134 rs12117137 C T 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.4928,T/0.5072;Gene=CSMD2/NM_001281956.1/1;CC=c.2174-199G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.2054-199G>A;VC=Intron;DM=CSMD2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:449:51.57:0.00:51.57:1.00:0.00:1.00:60:41.8:0:0:119:31:22:NM_052896.3(CSMD2) c.2054-199G>A,NM_052896.3(CSMD2) c.2054-199G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 34209208 . C . . NT END=34238169;NT GT ./. 1 34238283 rs474474 T C 130 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.6204,C/0.3796;PC=0.032;Gene=CSMD2/NM_001281956.1/1;CC=c.1733A>G;ProtCh=p.H578R;VC=Missense;Gene=CSMD2/NM_052896.4/0;CC=c.1613A>G;ProtCh=p.H538R;VC=Missense;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:61:0:0:41,40:1346,1302:129.70,0.00:69.20,0.00:60.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,8.2:0,0:0,0:101,85:50,63:32,28:NM_052896.3(CSMD2) c.1613A>G (p.His538Arg),-:0.31,-:0.34092,- 1 34238353 . C . . NT END=34254200;NT GT ./. 1 34254108 rs57878978 CA C 8 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;PC=0.032;Gene=CSMD2/NM_001281956.1/1;CC=c.1663+92delT;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.1543+92delT;VC=Intron;DM=CSMD2/Sushi;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,CA,I,C:11:11:1:4:1,6,1,3:22,205,33,123:1.38,0.00,2.47,7.88:-0.23,0.00,2.47,7.88:1.60,0.00,0.00,0.00:0.00,0.00,0.00,0.59:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.50:60,60,60,60:22.0,4.7,57.0,5.7:0,0,0,1:0,0,0,0:5,40,30,62:146,110,121,88:0,23,0,6:-,NM_052896.3(CSMD2) c.1543+92delT:-,NOT_FOUND:-,NOT_FOUND 1 34254272 rs115780313 T C 64 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.99,C/0.009984;NP=39;PC=1.000;Gene=CSMD2/NM_001281956.1/1;CC=c.1592A>G;ProtCh=p.N531S;VC=Missense;Gene=CSMD2/NM_052896.4/0;CC=c.1472A>G;ProtCh=p.N491S;VC=Missense;DM=CSMD2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:26:0:0:20,18:662,559:64.33,0.00:21.89,0.00:42.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.4,6.1:0,0:0,0:59,63:91,84:31,22:NM_052896.3(CSMD2) c.1472A>G (p.Asn491Ser),-:0.01,-:0.011226,- 1 34254314 . C . . NT END=34258023;NT GT ./. 1 34254416 rs6425838 C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.722,T/0.278;Gene=CSMD2/NM_001281956.1/1;CC=c.1551-103G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.1431-103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,T:9:0:0:0:3,6:81,205:0.00,20.88:0.00,0.00:0.00,20.88:0.00,0.99:0.00,0.00:0.00,0.99:60,60:8.7,38.7:0,0:0,0:134,118:17,32:11,11:-,NM_052896.3(CSMD2) c.1431-103G>A:-,0.29:-,NOT_FOUND 1 34257805 rs9659592 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9046,G/0.09545;Gene=CSMD2/NM_001281956.1/1;CC=c.1550+219T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.1430+219T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:4:0:0:1,3:33,86:0.00,9.04:0.00,9.04:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,46.7:0,0:0,0:30,63:121,72:0,6:-,NM_052896.3(CSMD2) c.1430+219T>C:-,0.08:-,NOT_FOUND 1 34258128 . C . . NT END=34276343;NT GT ./. 1 34276210 rs528742597 T TA 29 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1149;NP=4;Gene=CSMD2/NM_001281956.1/1;CC=c.1446+133_1446+134insT;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.1326+133_1326+134insT;VC=Intron;DM=CSMD2/CUB;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:22:24:12:0:12,10:361,374:0.00,28.86:0.00,28.86:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:24.9,2.3:0,2:0,0:69,38:70,111:25,28:-,NM_052896.3(CSMD2) c.1326+133_1326+134insT:-,NOT_FOUND:-,NOT_FOUND 1 34276466 . C . . NT END=34285313;NT GT ./. 1 34285342 rs17342512 G A 121 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.3984,A/0.6016;PC=1.000;Gene=CSMD2/NM_001281956.1/1;CC=c.1296C>T;ProtCh=p.A432=;VC=Silent;Gene=CSMD2/NM_052896.4/0;CC=c.1176C>T;ProtCh=p.A392=;VC=Silent;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:69:0:0:39,53:1295,1749:120.90,0.00:67.34,0.00:53.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.2,5.7:0,0:0,0:59,75:92,74:26,35:NM_052896.3(CSMD2) c.1176C>T (p.(=)),-:0.58,-:0.534446,- 1 34285381 rs11578857 C T 119 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.3986,T/0.6014;PC=1.000;Gene=CSMD2/NM_001281956.1/1;CC=c.1257G>A;ProtCh=p.K419=;VC=Silent;Gene=CSMD2/NM_052896.4/0;CC=c.1137G>A;ProtCh=p.K379=;VC=Silent;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:69:0:0:58,42:1979,1284:0.00,118.86:0.00,50.72:0.00,68.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,59.7:0,0:0,0:66,56:77,88:36,35:-,NM_052896.3(CSMD2) c.1137G>A (p.(=)):-,0.58:-,0.534753 1 34285439 . C . . NT END=34286069;NT GT ./. 1 34285716 rs10914784 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4014,A/0.5986;PC=0.845;Gene=CSMD2/NM_001281956.1/1;CC=c.1200-278C>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.1080-278C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:10:1:0:0:6,4:194,126:19.34,0.00:3.45,0.00:15.88,0.00:0.99,0.00:0.73,0.00:1.00,0.00:60,60:51.8,18.2:0,0:0,0:99,116:50,33:20,19:NM_052896.3(CSMD2) c.1080-278C>T,-:0.58,-:NOT_FOUND,- 1 34285874 rs12066051 C G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.859,G/0.141;Gene=CSMD2/NM_001281956.1/1;CC=c.1199+196G>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.1079+196G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,G:9:9:0:0:5,4:155,100:0.00,9.18:0.00,9.18:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:23.2,37.5:0,0:0,0:22,90:129,60:13,20:-,NM_052896.3(CSMD2) c.1079+196G>C:-,0.12:-,NOT_FOUND 1 34285995 rs3795414 G A 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5174,A/0.4826;PC=0.001;Gene=CSMD2/NM_001281956.1/1;CC=c.1199+75C>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.1079+75C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:25:0:0:16,10:534,309:53.53,0.00:54.15,0.00:-0.62,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:45.2,8.4:0,0:0,0:71,50:79,99:39,32:NM_052896.3(CSMD2) c.1079+75C>T,-:0.48,-:NOT_FOUND,- 1 34286158 . C . . NT END=34291297;NT GT ./. 1 34286166 . CA C 18 idl,rn VT=DEL;SST=Single;DP=34;PC=0.763;Gene=CSMD2/NM_001281956.1/1;CC=c.1112-10delT;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.992-10delT;VC=Intron;DM=CSMD2/Sushi;DM=CSMD2/CUB;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:CA,C:29:23:0:18:22,7:710,358:0.00,18.14:0.00,11.21:0.00,6.92:0.00,0.95:0.00,0.98:0.00,0.94:60,60:15.3,163.1:0,5:0,0:128,93:20,53:16,14:-,NM_052896.3(CSMD2) c.992-10delT:-,NOT_FOUND:-,NOT_FOUND 1 34286189 rs3843294 A C 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CSMD2/NM_001281956.1/1;CC=c.1112-32T>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.992-32T>G;VC=Intron;DM=CSMD2/Sushi;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A,C,I:23:10:2:0:1,21,1:9,643,62:0.00,72.26,1.99:0.00,21.08,0.00:0.00,51.19,1.99:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:45.0,80.8,80.0:0,0,1:0,0,0:58,102,105:55,45,44:0,29,4:NM_052896.3(CSMD2) c.992-32T>G,NM_052896.3(CSMD2) c.992-32T>G:0.54,0.54:0.124019,0.124019 1 34286435 rs150248824 GC G 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GC/0.98,G/0.01997;NP=18;Gene=CSMD2/NM_001281956.1/1;CC=c.1112-279delG;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.992-279delG;VC=Intron;DM=CSMD2/Sushi;DM=CSMD2/CUB;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GC,G:5:0:0:4:1,4:36,128:0.00,13.62:0.00,0.00:0.00,13.62:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,0.0:0,0:0,0:102,136:48,13:0,6:-,NM_052896.3(CSMD2) c.992-279delG:-,0.02:-,NOT_FOUND 1 34291094 rs10914785 A C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2644,C/0.7356;PC=0.001;Gene=CSMD2/NM_001281956.1/1;CC=c.1111+204T>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.991+204T>G;VC=Intron;DM=CSMD2/Sushi;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:200:22.86:22.86:0.00:1.00:1.00:0.00:60:45.0:0:0:32:119:30:NM_052896.3(CSMD2) c.991+204T>G,NM_052896.3(CSMD2) c.991+204T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 34291376 . C . . NT END=34312484;NT GT ./. 1 34312598 . C . . NT END=34329792;NT GT ./. 1 34329897 rs911218 T C 295 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.01178,A/.,C/0.9882;Gene=CSMD2/NM_001281956.1/1;CC=c.921-17300A>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.801-17300A>G;VC=Intron;Gene=HMGB4/NM_145205.5/1;CC=c.105T>C;ProtCh=p.Y35=;VC=Silent;Gene=HMGB4/NR_033264.1/0;VC=NonCoding;DM=CSMD2/CUB;DM=HMGB4/HMG_box_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:82:63:0:0:82:2565:295.30:191.15:104.14:1.00:1.00:1.00:60:38.1:0:0:76:74:35:NM_145205.4(HMGB4) c.105T>C (p.(=)),NM_145205.4(HMGB4) c.105T>C (p.(=)):0.98,0.98:0.966861,0.966861 1 34330067 rs10379 A C 508 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=A/0.09884,C/0.9012;PC=0.996;Gene=CSMD2/NM_001281956.1/1;CC=c.921-17470T>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.801-17470T>G;VC=Intron;Gene=HMGB4/NM_145205.5/1;CC=c.275A>C;ProtCh=p.E92A;VC=Missense;Gene=HMGB4/NR_033264.1/0;VC=NonCoding;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:134:98:0:0:1,133:9,4468:0.00,508.44:0.00,313.51:0.00,194.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:183.0,39.3:0,0:0,0:27,68:124,78:0,32:NM_145205.4(HMGB4) c.275A>C (p.Glu92Ala),NM_145205.4(HMGB4) c.275A>C (p.Glu92Ala):0.86,0.86:0.823159,0.823159 1 34330354 . T . . NT END=34383694;NT GT ./. 1 34383903 . C . . NT END=34401360;NT GT ./. 1 34401556 . C . . NT END=34498194;NT GT ./. 1 34409526 rs57400434 TAC T 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=35;Gene=CSMD2/NM_001281956.1/1;CC=c.518-7973_518-7972delGT;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.398-7973_398-7972delGT;VC=Intron;DM=CSMD2/Sushi;DM=CSMD2/CUB;DM=CSMD2/Sushi;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:5:3:116:9.25:3.55:5.70:0.85:0.99:0.99:70:13.3:1:0:51:64:23:NM_052896.3(CSMD2) c.398-7973_398-7972delGT,NM_052896.3(CSMD2) c.398-7973_398-7972delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 34498008 rs10157317 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7899,G/0.2101;Gene=CSMD2/NM_001281956.1/1;CC=c.517+187T>C;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.397+187T>C;VC=Intron;DM=CSMD2/Sushi;DM=CSMD2/CUB;DM=CSMD2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,G:11:11:0:0:7,4:230,121:0.00,10.88:0.00,10.88:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:1.9,51.5:0,0:0,0:25,75:126,75:17,32:-,NM_052896.3(CSMD2) c.397+187T>C:-,0.21:-,NOT_FOUND 1 34498308 . C . . NT END=34554577;NT GT ./. 1 34518096 rs371191224 C CTGTG 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7963,CTG/0.2037,CTGTG/.,CTGTGTGTG/.;DB;DBA=NA;PAF=NA;NP=28;PC=0.026;Gene=CSMD2/NM_001281956.1/1;CC=c.405-19790_405-19789insCACA;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.285-19790_285-19789insCACA;VC=Intron;DM=CSMD2/CUB;DM=CSMD2/CUB;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,CTGTG:5:5:3:0:2,3:47,100:0.00,9.98:0.00,6.58:0.00,3.41:0.00,0.78:0.00,0.78:0.00,0.94:60,60:4.5,27.0:0,0:0,0:113,14:23,92:26,1:-,NM_052896.3(CSMD2) c.285-19790_285-19789insCACA:-,NOT_FOUND:-,NOT_FOUND 1 34547728 rs9425989 C T 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7242,T/0.2758;PC=0.198;Gene=CSMD2/NM_001281956.1/1;CC=c.404+6850G>A;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.284+6850G>A;VC=Intron;DM=CSMD2/CUB;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,T:17:14:0:0:3,14:74,458:0.00,49.08:0.00,29.67:0.00,19.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,54.3:0,0:0,0:13,38:51,85:5,17:-,NM_052896.3(CSMD2) c.284+6850G>A:-,0.31:-,NOT_FOUND 1 34547869 rs35209573 G A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7588,A/0.2412;PC=0.076;Gene=CSMD2/NM_001281956.1/1;CC=c.404+6709C>T;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.284+6709C>T;VC=Intron;DM=CSMD2/CUB;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,G,T:9:3:0:0:7,1,1:183,23,11:20.17,0.00,0.63:5.26,0.00,0.00:14.91,0.00,0.63:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:72.3,84.0,48.0:0,0,0:0,0,0:129,23,20:18,112,131:7,0,0:NM_052896.3(CSMD2) c.284+6709C>T,-:0.26,-:NOT_FOUND,- 1 34547911 rs11810996 T C 16 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1855,C/0.8145;PC=0.011;Gene=CSMD2/NM_001281956.1/1;CC=c.404+6667A>G;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.284+6667A>G;VC=Intron;DM=CSMD2/CUB;DM=CSMD2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:141:16.48:1.89:14.59:1.00:1.00:1.00:60:78.0:0:0:63:88:2:NM_052896.3(CSMD2) c.284+6667A>G,NM_052896.3(CSMD2) c.284+6667A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 34554795 . C . . NT END=34630511;NT GT ./. 1 34600843 rs66898227 TCACA T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=94;PC=0.002;Gene=CSMD2/NM_001281956.1/1;CC=c.187+29665_187+29668delTGTG;VC=Intron;Gene=CSMD2/NM_052896.4/0;CC=c.67+30501_67+30504delTGTG;VC=Intron;DM=CSMD2/CUB;DM=CSMD2/Sushi;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TCACA,T:3:4:0:3:1,2:34,101:0.00,6.85:0.00,5.06:0.00,1.79:0.00,0.51:0.00,0.51:0.00,0.67:60,60:68.0,0.0:0,1:0,0:111,70:40,80:0,3:-,NM_052896.3(CSMD2) c.67+30501_67+30504delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 34630876 . G . . NT END=34631347;NT GT ./. 1 34631101 rs297789 C T 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3668,T/0.6332;PC=1.000;Gene=CSMD2/NM_052896.4/0;CC=c.67+247G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:7:0:0:14:392:45.78:26.14:19.64:1.00:1.00:1.00:60:51.4:0:0:85:59:34:NM_052896.3(CSMD2) c.67+247G>A,NM_052896.3(CSMD2) c.67+247G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 34631415 . T . . NT END=34643390;NT GT ./. 1 34643711 . G . . NT END=34662825;NT GT ./. 1 34662672 rs67117400 G C 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9137,C/0.08626;Gene=C1orf94/NM_032884.4/1;CC=c.-250-154G>C;VC=Intron;Gene=C1orf94/NM_001134734.1/0;CC=c.321-154G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,G:8:8:0:0:4,4:136,139:13.10,0.00:13.10,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:45.8,9.0:0,0:0,0:46,40:104,110:35,18:NM_001134734.1(C1orf94) c.321-154G>C,-:0.1,-:NOT_FOUND,- 1 34663180 rs3795412 G A 216 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=G/0.885,A/0.115;Gene=C1orf94/NM_032884.4/1;CC=c.105G>A;ProtCh=p.R35=;VC=Silent;Gene=C1orf94/NM_001134734.1/0;CC=c.675G>A;ProtCh=p.R225=;VC=Silent;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:148:92:0:0:69,1,78:2273,10,2383:216.10,-0.17,0.00:101.42,-0.05,0.00:114.67,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:64.1,22.0,6.6:0,0,0:0,0,0:74,20,68:76,126,80:42,0,42:NM_001134734.1(C1orf94) c.675G>A (p.(=)),-:0.12,-:0.182531,- 1 34663208 rs1382602 C G 212 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.62,G/0.38;PC=0.977;Gene=C1orf94/NM_032884.4/1;CC=c.133C>G;ProtCh=p.Q45E;VC=Missense;Gene=C1orf94/NM_001134734.1/0;CC=c.703C>G;ProtCh=p.Q235E;VC=Missense;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:145:91:0:0:76,69:2624,2224:0.00,211.69:0.00,104.98:0.00,106.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,62.4:0,0:0,0:66,66:78,81:31,38:-,NM_001134734.1(C1orf94) c.703C>G (p.Gln235Glu):-,0.34:-,0.401507 1 34663411 rs1414474 C G 161 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.8331,G/0.1669;PC=0.958;Gene=C1orf94/NM_032884.4/1;CC=c.336C>G;ProtCh=p.D112E;VC=Missense;Gene=C1orf94/NM_001134734.1/0;CC=c.906C>G;ProtCh=p.D302E;VC=Missense;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:116:62:0:0:1,64,51:8,2171,1706:-0.20,0.00,160.62:-0.10,0.00,55.62:-0.09,0.00,105.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:114.0,6.4,45.2:0,0,0:0,0,0:44,74,96:70,70,47:0,37,31:-,NM_001134734.1(C1orf94) c.906C>G (p.Asp302Glu):-,0.16:-,0.213056 1 34663515 . G . . NT END=34666372;NT GT ./. 1 34663612 rs71647966 T G 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.9143,G/0.08566;Gene=C1orf94/NM_032884.4/1;CC=c.439+98T>G;VC=Intron;Gene=C1orf94/NM_001134734.1/0;CC=c.1009+98T>G;VC=Intron;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:1:0:0:14,11:445,343:43.74,0.00:1.76,0.00:41.98,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:75.6,10.7:0,0:0,0:126,86:24,64:8,34:NM_001134734.1(C1orf94) c.1009+98T>G,-:0.1,-:NOT_FOUND,- 1 34663618 rs67904100 G A 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8343,A/0.1657;PC=0.022;Gene=C1orf94/NM_032884.4/1;CC=c.439+104G>A;VC=Intron;Gene=C1orf94/NM_001134734.1/0;CC=c.1009+104G>A;VC=Intron;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:1:0:0:14,8:415,231:41.92,0.00:1.74,0.00:40.18,0.00:1.00,0.00:0.76,0.00:1.00,0.00:60,60:76.0,13.8:0,0:0,0:128,68:22,83:11,23:NM_001134734.1(C1orf94) c.1009+104G>A,-:0.16,-:NOT_FOUND,- 1 34663699 rs17485021 T G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8289,G/0.1711;Gene=C1orf94/NM_032884.4/1;CC=c.439+185T>G;VC=Intron;Gene=C1orf94/NM_001134734.1/0;CC=c.1009+185T>G;VC=Intron;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:G,T:8:0:0:0:4,4:103,129:9.77,0.00:0.00,0.00:9.77,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:107.8,19.2:0,0:0,0:100,133:50,18:21,8:NM_001134734.1(C1orf94) c.1009+185T>G,-:0.16,-:NOT_FOUND,- 1 34666634 . G . . NT END=34667684;NT GT ./. 1 34666935 rs2219799 A T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7324,T/0.2676;Gene=C1orf94/NM_032884.4/1;CC=c.700+302A>T;VC=Intron;Gene=C1orf94/NM_001134734.1/0;CC=c.1270+302A>T;VC=Intron;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,T:6:0:0:0:3,3:75,93:0.00,8.94:0.00,0.00:0.00,8.94:0.00,0.73:0.00,0.00:0.00,0.73:60,60:41.3,50.0:0,0:0,0:95,98:52,52:38,15:-,NM_001134734.1(C1orf94) c.1270+302A>T:-,0.25:-,NOT_FOUND 1 34667861 . G . . NT END=34673757;NT GT ./. 1 34667863 rs12746310 C A 101 nt VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.8618,A/0.1382,T/.;PC=0.966;Gene=C1orf94/NM_032884.4/1;CC=c.876+3C>A;VC=Intron;Gene=C1orf94/NM_001134734.1/0;CC=c.1446+3C>A;VC=Intron;DM=C1orf94/DUF4688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:69:38:0:0:32,37:1063,1290:100.87,0.00:33.88,0.00:67.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,7.5:0,0:0,0:87,90:62,52:26,26:NM_001134734.1(C1orf94) c.1446+3C>A,-:0.14,-:0.189067,- 1 34672863 rs66484443 GGTGT G 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GGTGT/0.09864,G/0.9014;DB;DBA=NA;PAF=GGTGT/0.09864,G/0.9014;NP=34;PC=0.007;Gene=C1orf94/NM_032884.4/1;CC=c.877-856_877-853delGTGT;VC=Intron;Gene=C1orf94/NM_001134734.1/0;CC=c.1447-856_1447-853delGTGT;VC=Intron;DM=C1orf94/DUF4688;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GGTGT,G:4:4:0:2:2,2:67,67:0.00,6.45:0.00,4.81:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,0.0:0,0:0,0:124,30:26,98:4,9:-,NM_001134734.1(C1orf94) c.1447-894_1447-891delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 34673836 . G . . NT END=34677810;NT GT ./. 1 34678008 . G . . NT END=34684286;NT GT ./. 1 34684363 . A . . NT END=35222931;NT GT ./. 1 34684463 rs705207 G A 70 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2284,A/0.7716;PC=0.990;Gene=C1orf94/NM_032884.4/1;CC=c.*101G>A;VC=3UTR;Gene=C1orf94/NM_001134734.1/0;CC=c.*101G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:2:0:0:20:601:69.57:7.05:62.51:1.00:1.00:1.00:60:40.0:0:0:91:54:42:NM_001134734.1(C1orf94) c.*101G>A,NM_001134734.1(C1orf94) c.*101G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 34684571 rs3831264 CACACAT C 8 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=420;Gene=C1orf94/NM_032884.4/1;CC=c.*210_*215delACACAT;VC=3UTR;Gene=C1orf94/NM_001134734.1/0;CC=c.*210_*215delACACAT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:CACACAT,C:9:1:0:3:6,3:200,86:0.00,7.54:0.00,-0.18:0.00,7.72:0.00,0.64:0.00,0.56:0.00,0.94:60,70:45.2,53.3:0,0:0,0:119,82:32,69:21,45:-,NM_001134734.1(C1orf94) c.*210_*215delACACAT:-,NOT_FOUND:-,NOT_FOUND 1 34684617 rs41266415 A T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8113,T/0.1887;PC=0.001;Gene=C1orf94/NM_032884.4/1;CC=c.*255A>T;VC=3UTR;Gene=C1orf94/NM_001134734.1/0;CC=c.*255A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T:6:0:0:0:2,4:66,132:0.00,13.45:0.00,0.00:0.00,13.45:0.00,0.93:0.00,0.00:0.00,0.93:70,60:34.5,70.5:0,0:0,0:87,75:64,75:35,56:-,NM_001134734.1(C1orf94) c.*255A>T:-,0.21:-,NOT_FOUND 1 34684621 rs1061074 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1661,G/0.8339;PC=0.592;Gene=C1orf94/NM_032884.4/1;CC=c.*259A>G;VC=3UTR;Gene=C1orf94/NM_001134734.1/0;CC=c.*259A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:206:23.46:0.00:23.46:1.00:0.00:1.00:70:58.5:0:0:91:60:44:NM_001134734.1(C1orf94) c.*259A>G,NM_001134734.1(C1orf94) c.*259A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 34880285 rs4026519 T TAC 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;NP=7;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:T,TAC,D:5:4:2:1:2,2,1:65,66,33:0.00,6.31,2.88:0.00,4.85,1.44:0.00,1.47,1.44:0.00,0.46,0.00:0.00,0.87,0.00:0.00,0.80,0.00:60,60,60:23.5,23.0,0.0:0,0,0:0,0,0:69,68,33:82,82,118:42,8,0:-,chr1 g.34880285_34880286insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 35217822 . GGT G 11 rn VT=DEL;SST=Single;DP=4;NP=5;PC=0.075;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:3:0:4:3:131:10.96:5.48:5.48:0.85:0.99:0.95:60:3.7:1:0:83:67:8:NM_005268.2(GJB5) c.-100-u2898_-100-u2897delGT,NM_005268.2(GJB5) c.-100-u2898_-100-u2897delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 35223754 . G . . NT END=35226855;NT GT ./. 1 35227362 rs79193415 C G 205 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=C/0.9687,A/.,G/0.03135,T/.;PC=1.000;Gene=GJB4/NM_153212.2/1;CC=c.507C>G;ProtCh=p.C169W;VC=Missense;DM=GJB4/Connexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:151:92:0:0:83,67,1:2626,2177,11:0.00,204.90,-0.16:0.00,86.29,-0.03:0.00,118.61,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.7,38.6,217.0:0,0,0:0,0,0:88,73,123:58,70,28:32,42,0:-,NM_153212.2(GJB4) c.507C>G (p.Cys169Trp):-,0.03:-,0.028141 1 35227657 . C . . NT END=35250363;NT GT ./. 1 35251161 rs35983826 C T 167 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=112;DB;DBA=in-clinvar;PAF=C/0.9271,T/0.07288;Gene=GJB3/NM_024009.2/1;CC=c.798C>T;ProtCh=p.N266=;VC=Silent;Gene=GJB3/NM_001005752.1/0;CC=c.798C>T;ProtCh=p.N266=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:112:52:0:0:54,1,57:1778,10,1738:0.00,-0.12,167.45:0.00,-0.06,53.68:0.00,-0.07,113.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.8,60.0,48.1:0,0,0:0,0,0:96,121,94:51,30,49:31,0,24:-,NM_024009.2(GJB3) c.798C>T (p.(=)):-,0.07:-,0.089728 1 35251177 . C . . NT END=35259814;NT GT ./. 1 35251229 rs476220 G A 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.596,A/0.404,C/.;PC=0.001;Gene=GJB3/NM_024009.2/1;CC=c.*53G>A;VC=3UTR;Gene=GJB3/NM_001005752.1/0;CC=c.*53G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:14:0:0:31,28:1028,879:99.84,0.00:17.58,0.00:82.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.0,5.6:0,0:0,0:103,98:48,53:28,23:NM_024009.2(GJB3) c.*53G>A,-:0.43,-:NOT_FOUND,- 1 35259961 rs1764390 A G 207 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=A/0.3786,C/.,G/0.6214,T/.;PC=1.000;Gene=GJA4/NM_002060.2/1;CC=c.147A>G;ProtCh=p.Q49=;VC=Silent;DM=GJA4/Connexin;DM=GJA4/Connexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:142:96:0:0:76,66:2353,2182:0.00,207.10:0.00,114.09:0.00,93.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,37.3:0,0:0,0:85,81:65,66:33,32:-,NM_002060.2(GJA4) c.147A>G (p.(=)):-,0.64:-,0.706136 1 35260769 rs1764391 C T 124 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.6663,T/0.3337;Gene=GJA4/NM_002060.2/1;CC=c.955C>T;ProtCh=p.P319S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:79:33:0:0:1,37,41:11,1110,1278:-0.05,0.00,123.94:-0.06,0.00,43.71:0.01,0.00,80.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:85.0,9.6,37.2:0,0,0:0,0,0:42,108,83:109,40,66:0,25,43:-,NM_002060.2(GJA4) c.955C>T (p.Pro319Ser):-,0.33:-,0.378133 1 35260817 . A . . NT END=35320717;NT GT ./. 1 35260929 rs3543 G A 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.3444,A/0.6556;Gene=GJA4/NM_002060.2/1;CC=c.*113G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:1:0:0:16,8:507,227:51.72,0.00:1.80,0.00:49.92,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:50.8,6.4:0,0:0,0:105,82:45,69:26,46:NM_002060.2(GJA4) c.*113G>A,-:0.67,-:NOT_FOUND,- 1 35321579 . G . . NT END=35447544;NT GT ./. 1 35321684 rs397935415 A AT 61 idl,rn VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.5022,AT/0.4978,ATT/.;DB;DBA=NA;PAF=NA;NP=25;PC=0.026;Gene=SMIM12/NM_001164824.1/1;CC=c.-5-102_-5-101insA;VC=Intron;Gene=SMIM12/NM_001164825.1/0;CC=c.-5-102_-5-101insA;VC=Intron;Gene=SMIM12/NM_138428.5/0;CC=c.-5-102_-5-101insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT,D:52:19:25:5:24,1,22,5:741,23,742,150:0.00,0.88,61.02,11.20:0.00,-0.06,12.49,1.11:0.00,0.94,48.53,10.09:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:4.0,23.0,16.3,22.2:0,1,3,0:0,0,0,0:135,14,98,83:14,137,52,68:11,0,25,44:-,NM_001164824.1(C1orf212) c.-5-102_-5-101insA:-,NOT_FOUND:-,NOT_FOUND 1 35362185 rs7524662 A G 15 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2821,G/0.7179;PC=0.007;Gene=DLGAP3/NM_001080418.2/1;CC=c.1386+3085T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:131:15.46:7.94:7.52:1.00:1.00:1.00:60:48.0:5:0:104:46:11:NM_001080418.1(DLGAP3) c.1386+3085T>C,NM_001080418.1(DLGAP3) c.1386+3085T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 35362186 rs60111401 TCA T,TCACACACACA 9 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=165;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:TCACACACACA,T:4:4:2:3:1,3:62,87:3.08,9.46:1.54,3.60:1.54,5.86:0.00,0.78:0.00,0.97:0.00,0.97:60,60:75.0,54.3:1,0:0,0:40,107:104,44:23,2:NM_001080418.1(DLGAP3) c.1386+3082_1386+3083delTG,NM_001080418.1(DLGAP3) c.1386+3082TG[5]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 35447721 . C . . NT END=35449367;NT GT ./. 1 35449549 . C . . NT END=35450798;NT GT ./. 1 35450907 . G . . NT END=35452704;NT GT ./. 1 35453300 . a . . NT END=35454424;NT GT ./. 1 35454878 . c . . NT END=35457834;NT GT ./. 1 35454978 . TA T 10 rn VT=DEL;SST=Single;DP=25;NP=3;PC=0.004;Gene=ZMYM6/NM_007167.3/1;CC=c.2147-443delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,TA,T:25:0:0:5:1,19,5:33,534,131:2.05,0.00,10.17:0.00,0.00,0.00:2.05,0.00,10.17:0.00,0.00,0.83:0.00,0.00,0.00:0.00,0.00,0.83:60,60,60:65.0,24.9,39.0:1,0,0:0,0,0:57,119,115:92,30,36:0,26,7:-,NM_007167.3(ZMYM6) c.2147-443delT:-,NOT_FOUND:-,NOT_FOUND 1 35457989 . C . . NT END=35469568;NT GT ./. 1 35469607 . C . . NT END=35470732;NT GT ./. 1 35470874 . C . . NT END=35472551;NT GT ./. 1 35472700 . C . . NT END=35474352;NT GT ./. 1 35474526 . C . . NT END=35476047;NT GT ./. 1 35476199 . C . . NT END=35476358;NT GT ./. 1 35476638 . C . . NT END=35477490;NT GT ./. 1 35477607 . C . . NT END=35478031;NT GT ./. 1 35478183 . C . . NT END=35478264;NT GT ./. 1 35478748 . t . . NT END=35478928;NT GT ./. 1 35479291 rs10796889 T G 258 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.1985,G/0.8015;PC=0.001;Gene=ZMYM6/NM_007167.3/1;CC=c.795+1007A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G,T:71:41:0:0:70,1:2269,33:257.90,0.00:92.76,0.00:165.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,0.0:0,1:0,0:100,92:45,28:37,0:NM_007167.3(ZMYM6) c.795+1007A>C,NM_007167.3(ZMYM6) c.795+1007A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 35479323 . t . . NT END=35480297;NT GT ./. 1 35480490 . C . . NT END=35480588;NT GT ./. 1 35480764 . C . . NT END=35484953;NT GT ./. 1 35485204 . C . . NT END=35485983;NT GT ./. 1 35486069 . C . . NT END=35496147;NT GT ./. 1 35486169 . C CT 7 idl,rn VT=INS;SST=Single;DP=22;PC=0.004;Gene=ZMYM6/NM_007167.3/1;CC=c.94-102_94-101insA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,T,CT,D:19:1:5:4:13,1,3,2:333,14,148,79:0.00,0.37,7.01,4.04:0.00,0.62,0.00,0.00:0.00,-0.26,7.01,4.04:0.00,0.00,0.48,0.00:0.00,0.00,0.42,0.00:0.00,0.00,0.90,0.00:60,60,60,60:53.9,93.0,69.3,37.5:0,0,2,2:0,0,0,0:123,147,98,47:18,4,52,103:25,0,25,16:-,NM_007167.3(ZMYM6) c.94-102_94-101insA:-,NOT_FOUND:-,NOT_FOUND 1 35496241 . T . . NT END=35559588;NT GT ./. 1 35554057 rs10752594 G A 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=68;PC=0.125;Gene=ZMYM1/NM_001289088.1/1;CC=c.-74-5458G>A;VC=Intron;Gene=ZMYM1/NM_001289089.1/0;CC=c.-74-5458G>A;VC=Intron;Gene=ZMYM1/NM_001289090.1/0;CC=c.-122-4938G>A;VC=Intron;Gene=ZMYM1/NM_001289091.1/0;CC=c.-1272-4864G>A;VC=Intron;Gene=ZMYM1/NM_024772.4/0;CC=c.-74-5458G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:3:0:0:2,2:66,68:6.35,0.00:6.80,0.00:-0.45,0.00:0.51,0.00:0.89,0.00:0.79,0.00:60,60:97.5,71.0:0,0:0,0:69,84:70,54:11,25:NM_024772.3(ZMYM1) c.-74-5458G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 35559685 . G . . NT END=35561419;NT GT ./. 1 35561493 . G . . NT END=35562917;NT GT ./. 1 35561510 rs2101973 G A 165 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.4425,A/0.5575;PC=0.001;Gene=ZMYM1/NM_001289088.1/1;CC=c.169+18G>A;VC=Intron;Gene=ZMYM1/NM_001289089.1/0;CC=c.169+18G>A;VC=Intron;Gene=ZMYM1/NM_001289090.1/0;CC=c.169+18G>A;VC=Intron;Gene=ZMYM1/NM_001289091.1/0;CC=c.-908+18G>A;VC=Intron;Gene=ZMYM1/NM_024772.4/0;CC=c.169+18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A:44:19:0:0:44:1444:165.38:41.68:123.70:1.00:1.00:1.00:60:40.2:0:0:96:49:22:NM_024772.3(ZMYM1) c.169+18G>A,NM_024772.3(ZMYM1) c.169+18G>A:0.57,0.57:0.723968,0.723968 1 35562965 rs2971408 G A 340 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.1709,A/0.8291;PC=0.920;Gene=ZMYM1/NM_001289088.1/1;CC=c.217G>A;ProtCh=p.V73M;VC=Missense;Gene=ZMYM1/NM_001289089.1/0;CC=c.217G>A;ProtCh=p.V73M;VC=Missense;Gene=ZMYM1/NM_001289090.1/0;CC=c.217G>A;ProtCh=p.V73M;VC=Missense;Gene=ZMYM1/NM_001289091.1/0;CC=c.-860G>A;VC=5UTR;Gene=ZMYM1/NM_024772.4/0;CC=c.217G>A;ProtCh=p.V73M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:91:73:0:0:91:2965:339.78:217.57:122.20:1.00:1.00:1.00:60:42.5:0:0:73:73:36:NM_024772.3(ZMYM1) c.217G>A (p.Val73Met),NM_024772.3(ZMYM1) c.217G>A (p.Val73Met):0.83,0.83:0.894716,0.894716 1 35563168 . G . . NT END=35569895;NT GT ./. 1 35563206 rs6658571 C G 255 nt VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.4099,G/0.5901;Gene=ZMYM1/NM_001289088.1/1;CC=c.419+39C>G;VC=Intron;Gene=ZMYM1/NM_001289089.1/0;CC=c.419+39C>G;VC=Intron;Gene=ZMYM1/NM_001289090.1/0;CC=c.419+39C>G;VC=Intron;Gene=ZMYM1/NM_001289091.1/0;CC=c.-658+39C>G;VC=Intron;Gene=ZMYM1/NM_024772.4/0;CC=c.419+39C>G;VC=Intron;DM=ZMYM1/zf-FCS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:65:24:0:0:65:2241:255.06:66.86:188.20:1.00:1.00:1.00:60:40.5:0:0:108:41:17:NM_024772.3(ZMYM1) c.419+39C>G,NM_024772.3(ZMYM1) c.419+39C>G:0.6,0.6:0.753445,0.753445 1 35570071 . G . . NT END=35570157;NT GT ./. 1 35570371 . G . . NT END=35575894;NT GT ./. 1 35570509 rs149073503 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.985,A/0.01498;NP=12;PC=0.019;Gene=ZMYM1/NM_001289088.1/1;CC=c.807+139G>A;VC=Intron;Gene=ZMYM1/NM_001289089.1/0;CC=c.807+139G>A;VC=Intron;Gene=ZMYM1/NM_001289090.1/0;CC=c.807+139G>A;VC=Intron;Gene=ZMYM1/NM_001289091.1/0;CC=c.-270+139G>A;VC=Intron;Gene=ZMYM1/NM_024772.4/0;CC=c.807+139G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:6:0:0:0:4,2:104,66:10.62,0.00:0.00,0.00:10.62,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:71.5,0.0:0,0:0,0:121,109:28,41:17,1:NM_024772.3(ZMYM1) c.807+139G>A,-:0.01,-:NOT_FOUND,- 1 35576049 . G . . NT END=35577372;NT GT ./. 1 35576145 rs2935955 C T 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.1563,T/0.8437;PC=0.001;Gene=ZMYM1/NM_001289088.1/1;CC=c.961+97C>T;VC=Intron;Gene=ZMYM1/NM_001289089.1/0;CC=c.961+97C>T;VC=Intron;Gene=ZMYM1/NM_001289090.1/0;CC=c.961+97C>T;VC=Intron;Gene=ZMYM1/NM_001289091.1/0;CC=c.-116+97C>T;VC=Intron;Gene=ZMYM1/NM_024772.4/0;CC=c.961+97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:3:0:0:22:719:82.36:6.02:76.35:1.00:1.00:1.00:60:42.2:0:0:115:36:26:NM_024772.3(ZMYM1) c.961+97C>T,NM_024772.3(ZMYM1) c.961+97C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 35577514 . G . . NT END=35577687;NT GT ./. 1 35577732 . G . . NT END=35578577;NT GT ./. 1 35577980 rs12131653 T G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4407,C/.,G/0.5593;PC=0.001;Gene=ZMYM1/NM_001289088.1/1;CC=c.1146+249T>G;VC=Intron;Gene=ZMYM1/NM_001289089.1/0;CC=c.1089+249T>G;VC=Intron;Gene=ZMYM1/NM_001289090.1/0;CC=c.1146+249T>G;VC=Intron;Gene=ZMYM1/NM_001289091.1/0;CC=c.66+249T>G;VC=Intron;Gene=ZMYM1/NM_024772.4/0;CC=c.1146+249T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:32.7:0:0:98:52:43:NM_024772.3(ZMYM1) c.1146+249T>G,NM_024772.3(ZMYM1) c.1146+249T>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 35580861 . T . . NT END=35643613;NT GT ./. 1 35644485 . C CA 132 idl,rn VT=INS;SST=Single;DP=148;NP=1;PC=0.001;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:132:91:57:30:4,61,47,20:41,1859,1731,802:0.27,0.00,131.91,49.94:-0.33,0.00,80.54,28.28:0.61,0.00,51.37,21.66:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:101.5,21.0,22.8,26.4:0,0,11,6:0,0,0,0:103,111,80,73:21,34,60,76:12,34,29,27:-,XR_159038.1(LOC100996496) n.1877dupT:-,NOT_FOUND:-,NOT_FOUND 1 35648826 rs78294528 C CT 11 idl,rn VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=5;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,CT,D:59:33:7:5:52,5,2:1742,224,152:0.00,11.02,3.63:0.00,3.39,0.80:0.00,7.63,2.83:0.00,0.68,0.00:0.00,0.83,0.00:0.00,0.93,0.00:60,60,60:7.5,20.2,23.0:0,2,3:0,0,0:93,82,80:51,68,47:30,6,24:-,XR_159038.1(LOC100996496) n.-2465_-2464insA:-,NOT_FOUND:-,NOT_FOUND 1 35648848 . g . . NT END=35649096;NT GT ./. 1 35649754 . TA T 39 idl,rn VT=DEL;SST=Single;DP=100;NP=3;PC=1.000;Gene=SFPQ/NM_005066.2/1;CC=c.*302delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:95:68:9:18:1,72,6,16:10,2014,270,561:-0.21,0.00,11.33,39.50:-0.17,0.00,3.99,26.34:-0.04,0.00,7.34,13.16:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:30.0,14.8,17.5,15.2:0,0,3,2:0,0,0,0:21,69,28,66:129,79,123,75:0,42,17,31:-,NM_005066.2(SFPQ) c.*290T[12]:-,NOT_FOUND:-,NOT_FOUND 1 35650195 . C . . NT END=35652601;NT GT ./. 1 35652724 . C . . NT END=35652803;NT GT ./. 1 35652853 . C . . NT END=35653573;NT GT ./. 1 35653692 . C . . NT END=35654603;NT GT ./. 1 35654689 . C . . NT END=35654786;NT GT ./. 1 35654984 . C . . NT END=35656098;NT GT ./. 1 35656195 . C . . NT END=35656294;NT GT ./. 1 35656597 . C . . NT END=35656941;NT GT ./. 1 35657131 . C . . NT END=35657822;NT GT ./. 1 35658651 . G . . NT END=35734647;NT GT ./. 1 35734696 . G . . NT END=35774602;NT GT ./. 1 35734892 . A G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=1.000;Gene=ZMYM4/NM_005095.2/1;CC=c.39+206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:4:0:0:0:1,3:13,89:0.00,9.38:0.00,0.00:0.00,9.38:0.00,0.85:0.00,0.00:0.00,0.85:51,60:11.0,29.7:1,0:0,0:32,27:86,104:0,7:-,NM_005095.2(ZMYM4) c.39+206A>G:-,NOT_FOUND:-,NOT_FOUND 1 35774338 rs7544416 T A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4237,A/0.5763;PC=0.166;Gene=ZMYM4/NM_005095.2/1;CC=c.40-16623T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:38.6:0:0:58:93:51:NM_005095.2(ZMYM4) c.40-16623T>A,NM_005095.2(ZMYM4) c.40-16623T>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 35774633 . G . . NT END=35790960;NT GT ./. 1 35774755 rs6425943 C T 122 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.01538,T/0.9846;PC=0.006;Gene=ZMYM4/NM_005095.2/1;CC=c.40-16206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:1:0:0:33:1058:121.52:1.94:119.58:1.00:1.00:1.00:60:38.8:0:0:107:44:36:NM_005095.2(ZMYM4) c.40-16206C>T,NM_005095.2(ZMYM4) c.40-16206C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 35791008 . T . . NT END=35824525;NT GT ./. 1 35817870 rs56011152 GCACACA G 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=72;PC=0.023;Gene=ZMYM4/NM_005095.2/1;CC=c.86-6621_86-6616delCACACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:GCACACA,G:4:3:0:4:1,3:31,101:0.00,10.55:0.00,6.80:0.00,3.75:0.00,0.85:0.00,0.99:0.00,0.83:60,60:89.0,9.7:0,0:0,0:13,48:137,102:0,7:-,NM_005095.2(ZMYM4) c.86-6655_86-6650delCACACA:-,NOT_FOUND:-,NOT_FOUND 1 35825048 . G . . NT END=35826794;NT GT ./. 1 35826857 . G . . NT END=35827219;NT GT ./. 1 35827391 . G . . NT END=35835629;NT GT ./. 1 35835716 . T . . NT END=35835972;NT GT ./. 1 35835939 rs535532174 AT A 19 idl,rn VT=DEL;SST=Single;DP=100;DB;DBA=NA;PAF=NA;Gene=ZMYM4/NM_005095.2/1;CC=c.926-5delT;VC=Intron;RN=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:AT,I,A:87:76:7:19:74,3,10:2238,202,536:0.00,4.51,19.01:0.00,-0.69,14.89:0.00,5.20,4.12:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:30.4,105.3,84.1:0,4,9:0,0,0:94,54,48:30,97,89:23,9,19:-,NM_005095.2(ZMYM4) c.926-33delT:-,NOT_FOUND:-,0.143135 1 35836230 . T . . NT END=35846859;NT GT ./. 1 35836328 rs373652157 C CT 26 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=3;NP=9;Gene=ZMYM4/NM_005095.2/1;CC=c.1181+122_1181+123insT;VC=Intron;DM=ZMYM4/zf-FCS;DM=ZMYM4/zf-FCS;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:34:3:13:4:20,11,3:572,358,82:0.00,25.83,5.65:0.00,-0.40,-0.09:0.00,26.23,5.74:0.00,1.00,0.00:0.00,0.69,0.00:0.00,1.00,0.00:60,70,60:32.9,65.2,37.3:0,2,0:0,0,0:139,74,99:11,76,52:10,21,26:-,NM_005095.2(ZMYM4) c.1181+100_1181+101insT:-,NOT_FOUND:-,NOT_FOUND 1 35847036 . T . . NT END=35847146;NT GT ./. 1 35847361 . T . . NT END=35851042;NT GT ./. 1 35851195 . T . . NT END=35851674;NT GT ./. 1 35851792 . T . . NT END=35852603;NT GT ./. 1 35852881 . T . . NT END=35853054;NT GT ./. 1 35853207 . T . . NT END=35854510;NT GT ./. 1 35854578 rs61751000 T C 134 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.9942,C/0.005791;PC=1.000;Gene=ZMYM4/NM_005095.2/1;CC=c.2331T>C;ProtCh=p.Y777=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:89:71:0:0:41,1,47:1404,12,1487:133.59,-0.06,0.00:87.02,0.05,0.00:46.56,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.3,118.0,4.3:0,0,0:0,0,0:52,117,59:90,34,88:24,0,33:NM_005095.2(ZMYM4) c.2331T>C (p.(=)),-:0.01,-:0.013686,- 1 35854685 . T . . NT END=35855548;NT GT ./. 1 35855371 . T A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;NP=6;PC=0.006;Gene=ZMYM4/NM_005095.2/1;CC=c.2437-178T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,T:8:8:0:2:3,5:97,160:8.83,0.00:8.83,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:88.3,22.2:0,0:0,0:93,12:57,135:45,3:NM_005095.2(ZMYM4) c.2437-178T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 35855701 . T . . NT END=35857812;NT GT ./. 1 35857647 . G GA 8 rn VT=INS;SST=Single;DP=13;PC=0.001;Gene=ZMYM4/NM_005095.2/1;CC=c.2588-155_2588-154insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:G,GA,D:13:13:3:1:9,3,1:299,100,32:0.00,8.50,2.25:0.00,8.50,2.25:0.00,0.00,0.00:0.00,0.58,0.00:0.00,0.58,0.00:0.00,0.00,0.00:60,60,60:22.2,0.0,0.0:0,0,0:0,0,0:47,64,9:104,87,142:30,5,0:-,NM_005095.2(ZMYM4) c.2588-166_2588-165insA:-,NOT_FOUND:-,NOT_FOUND 1 35857955 . T . . NT END=35858247;NT GT ./. 1 35858287 . T . . NT END=35859195;NT GT ./. 1 35859342 . T . . NT END=35862152;NT GT ./. 1 35862273 . T . . NT END=35862652;NT GT ./. 1 35862725 . G . . NT END=35862977;NT GT ./. 1 35863148 . T . . NT END=35864013;NT GT ./. 1 35864069 . T . . NT END=35864464;NT GT ./. 1 35864646 . T . . NT END=35865082;NT GT ./. 1 35865179 . T . . NT END=35870623;NT GT ./. 1 35870797 . T . . NT END=35870973;NT GT ./. 1 35871071 . T . . NT END=35873608;NT GT ./. 1 35873762 . T . . NT END=35879572;NT GT ./. 1 35879686 . T . . NT END=35881066;NT GT ./. 1 35881317 . T . . NT END=35884043;NT GT ./. 1 35884175 . T . . NT END=35885070;NT GT ./. 1 35885280 . A . . NT END=35900494;NT GT ./. 1 35900683 . C . . NT END=35906647;NT GT ./. 1 35906740 . C . . NT END=35907846;NT GT ./. 1 35907938 . C . . NT END=35908506;NT GT ./. 1 35908630 . C . . NT END=35909761;NT GT ./. 1 35909905 . C . . NT END=35913773;NT GT ./. 1 35913934 . C . . NT END=35915467;NT GT ./. 1 35915607 . C . . NT END=35915958;NT GT ./. 1 35916111 . C . . NT END=35917228;NT GT ./. 1 35917393 . C . . NT END=35919157;NT GT ./. 1 35919291 . C . . NT END=35919962;NT GT ./. 1 35920087 . C . . NT END=35920214;NT GT ./. 1 35920238 . G . . NT END=35921613;NT GT ./. 1 35921843 . C . . NT END=35925905;NT GT ./. 1 35925861 rs2819002 C A 119 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.01338,A/0.9866,G/.;PC=0.003;Gene=KIAA0319L/NM_024874.4/1;CC=c.1427+45G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A:33:30:0:0:33:1034:119.04:99.47:19.56:1.00:1.00:1.00:60:44.0:0:0:39:107:24:NM_024874.4(KIAA0319L) c.1427+45G>T,NM_024874.4(KIAA0319L) c.1427+45G>T:0.98,0.98:0.962863,0.962863 1 35926039 . C . . NT END=35928221;NT GT ./. 1 35928315 . C . . NT END=35932208;NT GT ./. 1 35932297 . C . . NT END=35936463;NT GT ./. 1 35936562 . C . . NT END=35940405;NT GT ./. 1 35940508 . C . . NT END=35944566;NT GT ./. 1 35944814 . C . . NT END=35972212;NT GT ./. 1 35972737 . C . . NT END=36019950;NT GT ./. 1 36019913 . TA T 7 rn VT=DEL;SST=Single;DP=36;NP=11;Gene=KIAA0319L/NM_024874.4/1;CC=c.142+37delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:TA,I,T:36:32:2:3:31,2,3:1049,65,100:0.00,4.18,7.02:0.00,4.40,6.01:0.00,-0.23,1.01:0.00,0.00,0.39:0.00,0.00,0.84:0.00,0.00,0.62:60,60,60:4.1,0.0,0.0:0,0,0:0,0,0:46,20,67:104,130,84:32,1,42:-,NM_024874.4(KIAA0319L) c.142+37delT:-,NOT_FOUND:-,0.061556 1 36020093 . G . . NT END=36023791;NT GT ./. 1 36023659 rs112310803 CT C 11 rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=148;Gene=NCDN/NM_001014839.1/1;CC=c.-35-86delT;VC=Intron;Gene=NCDN/NM_001014841.1/0;CC=c.-19+187delT;VC=Intron;Gene=NCDN/NM_014284.2/0;CC=c.-121delT;VC=5UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:CT,G,C:27:25:0:5:21,1,5:674,11,141:0.00,0.01,10.96:0.00,0.05,11.19:0.00,-0.04,-0.22:0.00,0.00,0.82:0.00,0.00,0.98:0.00,0.00,0.50:60,60,60:25.4,62.0,33.2:0,0,0:0,0,0:25,30,42:126,121,94:15,0,14:-,NM_014284.2(NCDN) c.-132T[11]:-,NOT_FOUND:-,NOT_FOUND 1 36023825 . G . . NT END=36023830;NT GT ./. 1 36024287 . G . . NT END=36024677;NT GT ./. 1 36024849 . G . . NT END=36025926;NT GT ./. 1 36026896 . G . . NT END=36027992;NT GT ./. 1 36028235 . G . . NT END=36028802;NT GT ./. 1 36029028 . G . . NT END=36029367;NT GT ./. 1 36029511 . G . . NT END=36030827;NT GT ./. 1 36031265 . G . . NT END=36039178;NT GT ./. 1 36039206 . G . . NT END=36039527;NT GT ./. 1 36040011 . G . . NT END=36040549;NT GT ./. 1 36040602 . G . . NT END=36053930;NT GT ./. 1 36054154 . G . . NT END=36055530;NT GT ./. 1 36055650 . G . . NT END=36056234;NT GT ./. 1 36056377 . G . . NT END=36059994;NT GT ./. 1 36060278 . C . . NT END=36065141;NT GT ./. 1 36065473 . t . . NT END=36065742;NT GT ./. 1 36065878 . c . . NT END=36066099;NT GT ./. 1 36066658 rs397733673 CT C 12 sb;idl,rn VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.655;Gene=PSMB2/NM_001199780.1/0;CC=c.*2209delA;VC=3UTR;Gene=PSMB2/NM_001199779.1/1;CC=c.*2209delA;VC=3UTR;Gene=PSMB2/NM_002794.4/0;CC=c.*2209delA;VC=3UTR;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:CT,T,I,C:48:31:2:18:37,2,2,7:1233,59,51,313:0.00,3.40,2.61,12.23:0.00,-0.34,-0.34,0.72:0.00,3.74,2.95,11.51:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.99:60,60,60,60:14.4,173.5,24.5,71.1:0,1,0,5:0,0,0,0:110,76,86,108:27,74,64,43:19,34,25,8:-,NM_002794.4(PSMB2) c.*2183A[26]:-,NOT_FOUND:-,NOT_FOUND 1 36066680 . t . . NT END=36066953;NT GT ./. 1 36067525 . c . . NT END=36068450;NT GT ./. 1 36068976 . C . . NT END=36070833;NT GT ./. 1 36070884 . C . . NT END=36074846;NT GT ./. 1 36075010 . C . . NT END=36096874;NT GT ./. 1 36096946 . C . . NT END=36097036;NT GT ./. 1 36097139 . G . . NT END=36101910;NT GT ./. 1 36101730 rs523743 T C 40 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.005192,C/0.9948;Gene=PSMB2/NM_001199779.1/1;CC=c.139+181A>G;VC=Intron;Gene=PSMB2/NM_002794.4/0;CC=c.214+181A>G;VC=Intron;DM=PSMB2/Proteasome GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:346:39.84:39.84:0.00:1.00:1.00:0.00:60:32.4:0:0:59:83:29:NM_002794.4(PSMB2) c.214+181A>G,NM_002794.4(PSMB2) c.214+181A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 36102034 . C . . NT END=36106942;NT GT ./. 1 36107250 rs567476 G C 334 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.005192,C/0.9948;Gene=PSMB2/NM_002794.4/0;CC=c.-217C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:49:0:0:95:2889:334.02:124.12:209.90:1.00:1.00:1.00:60:36.2:0:0:91:59:36:NM_002794.4(PSMB2) c.-217C>G,NM_002794.4(PSMB2) c.-217C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 36107311 . T . . NT END=36181232;NT GT ./. 1 36107510 rs676614 C A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5196,A/0.4804 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:317:36.46:0.00:36.46:1.00:0.00:1.00:60:47.6:0:0:91:48:28:NM_002794.4(PSMB2) c.-412-u65G>T,NM_002794.4(PSMB2) c.-412-u65G>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 36181923 . C . . NT END=36186491;NT GT ./. 1 36182139 rs11580984 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5036,T/0.4964;Gene=C1orf216/NM_152374.1/1;CC=c.-5-212G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:311:35.82:0.00:35.82:1.00:0.00:1.00:60:46.0:0:0:125:25:13:NM_152374.1(C1orf216) c.-5-212G>A,NM_152374.1(C1orf216) c.-5-212G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 1 36186582 . C . . NT END=36197712;NT GT ./. 1 36198572 . CT C 13 idl,rn VT=DEL;SST=Single;DP=82;Gene=CLSPN/NM_001190481.1/0;CC=c.*3524delA;VC=3UTR;Gene=CLSPN/NM_022111.3/1;CC=c.*3524delA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,CT,I,C:81:35:6:7:1,68,6,6:25,2198,187,214:0.74,0.00,12.52,13.21:-0.10,0.00,2.10,5.24:0.84,0.00,10.42,7.98:0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.97:60,60,60,60:67.0,13.6,52.8,15.3:0,0,0,1:0,0,0,0:32,118,70,97:119,28,80,43:0,19,28,14:-,NM_022111.3(CLSPN) c.*3514A[10]:-,NOT_FOUND:-,NOT_FOUND 1 36198581 . t . . NT END=36199024;NT GT ./. 1 36198921 rs57561208 C CT 23 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;NP=51;NP=62;PC=0.001;Gene=CLSPN/NM_001190481.1/0;CC=c.*3175_*3176insA;VC=3UTR;Gene=CLSPN/NM_022111.3/1;CC=c.*3175_*3176insA;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,T,CT:10:9:7:0:2,1,7:69,32,217:0.00,2.59,22.91:0.00,2.59,19.99:0.00,0.00,2.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.80:60,60,60:95.5,150.0,45.7:0,1,0:0,0,0:10,22,12:133,116,135:4,0,6:-,NM_022111.3(CLSPN) c.*3175dupA:-,NOT_FOUND:-,NOT_FOUND 1 36199319 . c . . NT END=36199564;NT GT ./. 1 36200020 . c . . NT END=36200315;NT GT ./. 1 36200234 rs620296 A G 96 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.02416,G/0.9758;PC=0.019;Gene=CLSPN/NM_001190481.1/0;CC=c.*1863T>C;VC=3UTR;Gene=CLSPN/NM_022111.3/1;CC=c.*1863T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:31:29:0:0:31:813:95.68:87.93:7.75:1.00:1.00:1.00:60:41.7:0:0:82:68:31:NM_022111.3(CLSPN) c.*1863T>C,NM_022111.3(CLSPN) c.*1863T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 36200278 rs71062891 C CAA 52 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;NP=87;PC=0.002;Gene=CLSPN/NM_001190481.1/0;CC=c.*1818_*1819insTT;VC=3UTR;Gene=CLSPN/NM_022111.3/1;CC=c.*1818_*1819insTT;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CAA,D:30:34:24:2:2,9,17,2:42,275,742,53:2.58,0.00,51.96,3.52:2.24,0.00,52.49,3.57:0.33,0.00,-0.53,-0.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.85,0.00:60,60,60,60:65.5,39.8,65.3,31.5:0,0,7,0:0,0,0,0:8,139,50,79:143,11,93,70:8,8,35,54:-,NM_022111.3(CLSPN) c.*1806T[15]:-,NOT_FOUND:-,NOT_FOUND 1 36200390 rs609070 G A 380 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.02416,A/0.9758;PC=0.001;Gene=CLSPN/NM_001190481.1/0;CC=c.*1707C>T;VC=3UTR;Gene=CLSPN/NM_022111.3/1;CC=c.*1707C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:101:73:0:0:101:3323:380.46:221.18:159.28:1.00:1.00:1.00:60:41.9:0:0:69:79:33:NM_022111.3(CLSPN) c.*1707C>T,NM_022111.3(CLSPN) c.*1707C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 36201048 . c . . NT END=36201303;NT GT ./. 1 36201306 . C CA 13 idl,rn VT=INS;SST=Single;DP=44;NP=2;PC=0.013;Gene=CLSPN/NM_001190481.1/0;CC=c.*790_*791insT;VC=3UTR;Gene=CLSPN/NM_022111.3/1;CC=c.*790_*791insT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,C,CA,D:42:39:6:4:2,33,5,2:18,1085,197,96:-0.10,0.00,12.54,3.81:-0.56,0.00,8.45,2.64:0.46,0.00,4.09,1.17:0.00,0.00,0.75,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.71,0.00:60,60,60,60:28.5,24.2,4.2,27.0:0,0,1,1:0,0,0,0:57,83,25,55:88,66,125,96:31,38,15,10:-,NM_022111.3(CLSPN) c.*790dupT:-,NOT_FOUND:-,NOT_FOUND 1 36201560 . c . . NT END=36201820;NT GT ./. 1 36201819 . TA T 23 idl,rn VT=DEL;SST=Single;DP=62;PC=0.161;Gene=CLSPN/NM_001190481.1/0;CC=c.*277delT;VC=3UTR;Gene=CLSPN/NM_022111.3/1;CC=c.*277delT;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:TA,I,T:57:54:7:16:39,7,11:1147,230,445:0.00,17.69,23.31:0.00,12.37,19.30:0.00,5.32,4.01:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.93:60,60,60:23.0,21.1,22.7:0,0,5:0,0,0:79,20,61:72,120,89:54,14,23:-,NM_022111.3(CLSPN) c.*261T[16]:-,NOT_FOUND:-,NOT_FOUND 1 36202208 . C . . NT END=36202514;NT GT ./. 1 36202677 . C . . NT END=36202939;NT GT ./. 1 36203023 . C . . NT END=36203592;NT GT ./. 1 36203699 . C . . NT END=36204055;NT GT ./. 1 36203701 rs201021835 G GAAAAA 11 nt VT=INS;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CLSPN/NM_001190481.1/0;CC=c.3367-8_3367-4dupTTTTT;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.3559-8_3559-4dupTTTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,C,G,GAAAAA:55:31:6:0:4,1,45,5:83,12,1356,188:4.43,-0.10,0.00,10.82:-0.67,-0.17,0.00,4.11:5.10,0.06,0.00,6.71:0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.91:60,60,70,60:100.8,35.0,25.5,33.4:1,1,0,1:0,0,0,0:78,48,122,107:51,77,12,36:35,0,23,12:-,NM_022111.3(CLSPN) c.3559-4_3559-3insTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 36203715 . ATAT A 33 idl,nt VT=DEL;SST=Single;DP=38;NP=3;Gene=CLSPN/NM_001190481.1/0;CC=c.3367-20_3367-18delATA;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.3559-20_3559-18delATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAT,A:32:22:0:22:20,12:593,547:0.00,33.13:0.00,15.55:0.00,17.58:0.00,1.00:0.00,1.00:0.00,1.00:60,70:37.9,49.8:0,6:0,0:130,87:3,57:12,30:-,NM_022111.3(CLSPN) c.3559-20_3559-18delATA:-,NOT_FOUND:-,NOT_FOUND 1 36203716 rs5022684 T A 11 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;Gene=CLSPN/NM_001190481.1/0;CC=c.3367-18A>T;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.3559-18A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,T:9:4:0:32:4,5:114,125:10.63,0.00:4.54,0.00:6.08,0.00:0.85,0.00:0.91,0.00:0.94,0.00:60,60:104.5,33.6:0,0:0,0:131,131:18,17:8,8:NM_022111.3(CLSPN) c.3559-18A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 36203718 rs2336141 T A 12 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2;Gene=CLSPN/NM_001190481.1/0;CC=c.3367-20A>T;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.3559-20A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:A,T:10:5:0:30:4,6:133,137:12.31,0.00:4.47,0.00:7.83,0.00:0.84,0.00:0.46,0.00:0.94,0.00:60,60:102.5,40.7:1,0:0,0:119,133:18,14:14,10:NM_022111.3(CLSPN) c.3559-20A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 36203720 rs201555109 T A 43 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CLSPN/NM_001190481.1/0;CC=c.3367-22A>T;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.3559-22A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,C,T:22:10:0:17:13,1,8:429,12,201:43.07,0.31,0.00:12.88,-0.08,0.00:30.18,0.39,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:70,60,60:58.4,35.0,51.1:11,1,0:0,0,0:91,64,135:58,61,14:27,0,4:NM_022111.3(CLSPN) c.3559-22A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 36203722 rs199569493 T A 44 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CLSPN/NM_001190481.1/0;CC=c.3367-24A>T;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.3559-24A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:12:0:9:14,12:449,303:43.82,0.00:14.68,0.00:29.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:45.2,44.8:14,3:0,0:92,136:57,13:22,5:NM_022111.3(CLSPN) c.3559-24A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 36204184 . C . . NT END=36204736;NT GT ./. 1 36204859 . C . . NT END=36204965;NT GT ./. 1 36205131 . C . . NT END=36208741;NT GT ./. 1 36205166 rs577483 A G 166 nt VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.4796,G/0.5204;PC=0.015;Gene=CLSPN/NM_001190481.1/0;CC=c.2952-36T>C;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.3144-36T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:7:0:0:45:1442:165.58:21.47:144.11:1.00:1.00:1.00:60:39.1:0:0:95:42:30:NM_022111.3(CLSPN) c.3144-36T>C,NM_022111.3(CLSPN) c.3144-36T>C:0.51,0.51:0.690989,0.690989 1 36208843 . C . . NT END=36209055;NT GT ./. 1 36209132 . C . . NT END=36211051;NT GT ./. 1 36209228 rs369236831 A AT 9 rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=CLSPN/NM_001190481.1/0;CC=c.2775-98_2775-97insA;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.2967-98_2967-97insA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,AT,D:32:5:4:3:26,4,2:801,122,78:0.00,8.99,2.40:0.00,-0.20,-0.10:0.00,9.19,2.49:0.00,0.62,0.00:0.00,0.47,0.00:0.00,0.94,0.00:60,60,60:16.0,22.2,0.0:0,0,1:0,0,0:114,96,42:35,54,108:25,13,32:-,NM_022111.3(CLSPN) c.2967-98_2967-97insA:-,NOT_FOUND:-,NOT_FOUND 1 36211164 . C . . NT END=36212366;NT GT ./. 1 36212594 . C . . NT END=36213507;NT GT ./. 1 36213663 . C . . NT END=36214005;NT GT ./. 1 36213712 rs516992 G T 203 nt VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.02436,T/0.9756;PC=0.995;Gene=CLSPN/NM_001190481.1/0;CC=c.2281-50C>A;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.2473-50C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:T:58:21:0:0:58:1752:202.66:52.80:149.86:1.00:1.00:1.00:60:43.3:0:0:107:42:19:NM_022111.3(CLSPN) c.2473-50C>A,NM_022111.3(CLSPN) c.2473-50C>A:0.97,0.97:0.979929,0.979929 1 36214206 . C . . NT END=36215067;NT GT ./. 1 36215133 . C . . NT END=36215233;NT GT ./. 1 36215413 . C . . NT END=36216850;NT GT ./. 1 36215601 rs66909447 A AT 19 idl,rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3187,AT/0.6813;DB;DBA=NA;PAF=A/0.3187,AT/0.6813;NP=136;PC=0.003;Gene=CLSPN/NM_001190481.1/0;CC=c.1837-190dupA;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.2029-190dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,AT,D:10:0:9:1:3,6,1:77,272,34:0.00,18.65,2.66:0.00,0.00,0.00:0.00,18.65,2.66:0.00,0.97,0.00:0.00,0.00,0.00:0.00,0.97,0.00:60,60,60:4.3,30.8,0.0:0,3,0:0,0,0:90,95,77:61,56,74:27,11,0:-,NM_022111.3(CLSPN) c.2029-190_2029-189insA:-,NOT_FOUND:-,NOT_FOUND 1 36216835 rs535638 C T 213 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.4796,T/0.5204;PC=0.077;Gene=CLSPN/NM_001190481.1/0;CC=c.1836+16G>A;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.2028+16G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:44:0:0:56:1866:213.23:132.71:80.53:1.00:1.00:1.00:60:42.7:0:0:66:76:31:NM_022111.3(CLSPN) c.2028+16G>A,NM_022111.3(CLSPN) c.2028+16G>A:0.51,0.51:0.690557,0.690557 1 36217108 . C . . NT END=36219345;NT GT ./. 1 36219538 . C . . NT END=36225942;NT GT ./. 1 36226518 . C . . NT END=36226696;NT GT ./. 1 36226806 . C . . NT END=36227598;NT GT ./. 1 36227672 . C . . NT END=36228004;NT GT ./. 1 36228083 . C . . NT END=36228760;NT GT ./. 1 36228923 . C . . NT END=36229866;NT GT ./. 1 36230316 . C . . NT END=36230818;NT GT ./. 1 36230928 . C . . NT END=36235447;NT GT ./. 1 36235425 rs77552681 G T 121 nt VT=SNV;PN=T;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.9936,T/0.00639;Gene=CLSPN/NM_001190481.1/0;CC=c.24+23C>A;VC=Intron;Gene=CLSPN/NM_022111.3/1;CC=c.24+23C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:81:72:0:0:41,40:1310,1259:0.00,120.54:0.00,77.52:0.00,43.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,37.2:0,0:0,0:47,46:103,102:27,22:-,NM_022111.3(CLSPN) c.24+23C>A:-,0.01:-,0.013686 1 36235472 . G . . NT END=36274017;NT GT ./. 1 36274037 . G . . NT END=36282482;NT GT ./. 1 36282417 rs369277688 A G,AG 79 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1784;NP=3;NP=47;PC=0.361 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:74:A,G,AG:30:28:6:0:2,24,4:22,714,182:0.00,78.61,10.89:0.00,68.75,10.94:0.00,9.86,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:20.5,38.8,23.2:0,0,2:0,0,0:73,47,27:77,100,123:59,39,5:NM_017629.3(EIF2C4) c.20-66A>G,NM_017629.3(EIF2C4) c.20-66_20-65insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 36282649 . G . . NT END=36288457;NT GT ./. 1 36288584 . G . . NT END=36290913;NT GT ./. 1 36288635 rs41312028 G A 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.988,A/0.01198;Gene=AGO4/NM_017629.3/1;CC=c.306+52G>A;VC=Intron;DM=AGO4/ArgoN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:16:0:0:22,23:665,771:63.40,0.00:8.37,0.00:55.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,7.7:0,0:0,0:97,116:53,28:34,20:NM_017629.3(EIF2C4) c.306+52G>A,-:0.02,-:0.027915,- 1 36291096 . G . . NT END=36291279;NT GT ./. 1 36291417 . G . . NT END=36291526;NT GT ./. 1 36291662 . G . . NT END=36292348;NT GT ./. 1 36292437 . G . . NT END=36297027;NT GT ./. 1 36297176 . G . . NT END=36297412;NT GT ./. 1 36297533 . G . . NT END=36297657;NT GT ./. 1 36297787 . G . . NT END=36298037;NT GT ./. 1 36298019 . CT C 17 idl,rn VT=DEL;SST=Single;DP=54;NP=31;PC=0.935;Gene=AGO4/NM_017629.3/1;CC=c.1246-6delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,CT,I,C:52:40:3:8:1,42,2,7:11,1399,95,253:-0.13,0.00,3.61,16.71:-0.23,0.00,2.87,7.26:0.09,0.00,0.74,9.45:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.94:60,60,60,60:93.0,19.7,126.0,23.4:0,0,1,1:0,0,0,0:16,62,45,81:120,88,102,69:0,36,5,28:-,NM_017629.3(EIF2C4) c.1246-18delT:-,NOT_FOUND:-,NOT_FOUND 1 36298172 . G . . NT END=36299590;NT GT ./. 1 36299776 . G . . NT END=36301434;NT GT ./. 1 36301595 . G . . NT END=36306765;NT GT ./. 1 36307082 . G . . NT END=36307216;NT GT ./. 1 36307352 . G . . NT END=36315757;NT GT ./. 1 36307412 rs5773512 CAT C 7 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CAT/0.3263,C/0.6737;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CAT/0.3263,C/0.6737;NP=10;Gene=AGO4/NM_017629.3/1;CC=c.2175+87_2175+88delTA;VC=Intron;DM=AGO4/Piwi;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CAT,T,I,C:20:9:1:6:15,1,1,3:404,26,33,170:0.00,1.43,2.13,7.18:0.00,-0.08,-0.08,1.18:0.00,1.52,2.21,6.00:0.00,0.00,0.00,0.47:0.00,0.00,0.00,0.66:0.00,0.00,0.00,0.87:60,60,60,60:22.6,212.0,0.0,42.3:1,0,0,3:0,0,0,0:123,88,117,44:24,62,34,107:24,0,0,32:-,NM_017629.3(EIF2C4) c.2175+62_2175+63delAT:-,NOT_FOUND:-,NOT_FOUND 1 36315860 . G . . NT END=36316454;NT GT ./. 1 36316304 rs4233204 G C 63 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.02436,C/0.9756;PC=0.005;Gene=AGO4/NM_017629.3/1;CC=c.2278-151G>C;VC=Intron;DM=AGO4/Piwi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:15:0:0:17:549:63.00:55.85:7.15:1.00:1.00:1.00:60:47.8:0:0:51:97:27:NM_017629.3(EIF2C4) c.2278-151G>C,NM_017629.3(EIF2C4) c.2278-151G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 36316381 rs562531687 C CA 32 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.006589,A/0.9934;NP=2;PC=0.476;Gene=AGO4/NM_017629.3/1;CC=c.2278-55_2278-54insA;VC=Intron;DM=AGO4/Piwi;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:21:21:11:1:9,11,1:277,328,19:0.00,32.05,0.90:0.00,32.05,0.90:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:32.1,47.9,48.0:1,0,0:0,0,0:74,67,110:67,82,40:54,23,0:-,NM_017629.3(EIF2C4) c.2278-74_2278-73insA:-,NOT_FOUND:-,NOT_FOUND 1 36316418 rs397697105 C CA 111 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.006589,CA/0.9934,CAA/.,CAAA/.,CAAAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2070;PC=0.145;Gene=AGO4/NM_017629.3/1;CC=c.2278-27_2278-26insA;VC=Intron;DM=AGO4/Piwi;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,C,CA:39:35:37:0:2,4,33:24,68,1130:0.88,0.00,110.69:0.91,0.00,74.58:-0.03,0.00,36.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:90.0,44.8,7.3:0,0,4:0,0,0:131,141,34:11,8,117:3,4,18:NM_017629.3(EIF2C4) c.2278-37_2278-36insA,NM_017629.3(EIF2C4) c.2278-37_2278-36insA:NOT_FOUND,NOT_FOUND:0.819482,0.819482 1 36316571 rs4652895 A C 263 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.509,C/0.491,T/.;Gene=AGO4/NM_017629.3/1;CC=c.2394A>C;ProtCh=p.S798=;VC=Silent;DM=AGO4/Piwi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:75:52:0:0:1,73,1:9,2305,7:0.00,263.28,0.05:0.00,129.87,0.06:0.00,133.41,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:195.0,35.9,7.0:0,0,0:0,0,0:93,92,111:44,59,39:0,33,0:NM_017629.3(EIF2C4) c.2394A>C (p.(=)),NM_017629.3(EIF2C4) c.2394A>C (p.(=)):0.48,0.48:0.657466,0.657466 1 36316655 . G . . NT END=36319097;NT GT ./. 1 36319207 . G . . NT END=36348436;NT GT ./. 1 36332536 rs60174601 GACAC G 12 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=162;PC=0.047;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:4:4:104:12.30:5.01:7.29:1.00:1.00:1.00:60:55.5:0:0:71:78:15:chr1 g.36332537_36332540delACAC (intergenic),chr1 g.36332537_36332540delACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 36348458 . G . . NT END=36348809;NT GT ./. 1 36349048 . G . . NT END=36354027;NT GT ./. 1 36354212 . G . . NT END=36358157;NT GT ./. 1 36358279 . G . . NT END=36358697;NT GT ./. 1 36358880 . G . . NT END=36359274;NT GT ./. 1 36358975 . TA T 10 rn VT=DEL;SST=Single;DP=45;NP=2;Gene=AGO1/NM_001317123/0;CC=c.287+107delA;VC=Intron;Gene=AGO1/NM_001317122/0;CC=c.512+107delA;VC=Intron;Gene=AGO1/NM_012199.2/1;CC=c.512+107delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:TA,I,T:45:7:2:4:39,2,4:1093,59,134:0.00,3.39,9.54:0.00,1.63,1.21:0.00,1.76,8.33:0.00,0.00,0.57:0.00,0.00,0.45:0.00,0.00,0.91:60,60,60:22.6,11.5,0.0:0,0,0:0,0,0:98,100,131:43,50,19:35,23,1:-,NM_012199.2(EIF2C1) c.512+97delA:-,NOT_FOUND:-,NOT_FOUND 1 36359412 . G . . NT END=36359637;NT GT ./. 1 36359773 . G . . NT END=36359915;NT GT ./. 1 36360004 . G . . NT END=36360722;NT GT ./. 1 36360871 . G . . NT END=36367074;NT GT ./. 1 36367195 . G . . NT END=36367548;NT GT ./. 1 36367672 . G . . NT END=36367804;NT GT ./. 1 36367939 . G . . NT END=36372535;NT GT ./. 1 36372409 . GA G 16 idl,rn VT=DEL;SST=Single;DP=21;NP=10;PC=0.032;Gene=AGO1/NM_001317123/0;CC=c.1173-110delA;VC=Intron;Gene=AGO1/NM_001317122/0;CC=c.1398-110delA;VC=Intron;Gene=AGO1/NM_012199.2/1;CC=c.1398-110delA;VC=Intron;DM=AGO1/ArgoMid;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:GA,I,G:19:21:1:8:12,1,6:381,33,224:0.00,2.20,16.14:0.00,2.20,16.14:0.00,0.00,0.00:0.00,0.00,0.93:0.00,0.00,0.93:0.00,0.00,0.00:60,60,60:27.0,0.0,11.5:0,0,2:0,0,0:68,70,87:83,78,63:44,0,35:-,NM_012199.2(EIF2C1) c.1398-126delA:-,NOT_FOUND:-,NOT_FOUND 1 36372721 . G . . NT END=36379442;NT GT ./. 1 36379603 . G . . NT END=36379784;NT GT ./. 1 36379876 . G . . NT END=36380948;NT GT ./. 1 36381144 . G . . NT END=36383193;NT GT ./. 1 36383329 . G . . NT END=36383922;NT GT ./. 1 36384025 . G . . NT END=36384655;NT GT ./. 1 36384856 . G . . NT END=36385099;NT GT ./. 1 36385209 . A . . NT END=36397027;NT GT ./. 1 36397047 . G . . NT END=36411292;NT GT ./. 1 36411465 . G . . NT END=36432555;NT GT ./. 1 36432677 . G . . NT END=36437624;NT GT ./. 1 36437834 . G . . NT END=36438975;NT GT ./. 1 36439113 . G . . NT END=36469941;NT GT ./. 1 36470077 . G . . NT END=36471335;NT GT ./. 1 36471460 . G . . NT END=36474290;NT GT ./. 1 36474379 . G . . NT END=36474497;NT GT ./. 1 36474646 . G . . NT END=36475075;NT GT ./. 1 36475196 . G . . NT END=36479230;NT GT ./. 1 36479354 . G . . NT END=36479515;NT GT ./. 1 36479650 . G . . NT END=36492714;NT GT ./. 1 36492900 . G . . NT END=36499774;NT GT ./. 1 36499935 . G . . NT END=36501777;NT GT ./. 1 36501633 rs397791611 CA C 11 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;PC=0.006;Gene=AGO3/NM_024852.3/1;CC=c.1752-124delA;VC=Intron;Gene=AGO3/NM_177422.2/0;CC=c.1050-124delA;VC=Intron;DM=AGO3/Piwi;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:CA,I,C:12:16:1:10:7,1,4:219,31,324:0.00,2.15,11.43:0.00,2.20,11.65:0.00,-0.05,-0.22:0.00,0.00,0.73:0.00,0.00,0.96:0.00,0.00,0.50:60,60,60:39.0,34.0,30.0:0,0,6:0,0,0:121,46,65:29,105,85:24,0,27:-,NM_024852.3(EIF2C3) c.1752-144delA:-,NOT_FOUND:-,NOT_FOUND 1 36501869 . G . . NT END=36505390;NT GT ./. 1 36505586 . G . . NT END=36505907;NT GT ./. 1 36506043 . G . . NT END=36509047;NT GT ./. 1 36509150 . G . . NT END=36520546;NT GT ./. 1 36520391 rs385621 T G 59 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.05451,G/0.9455;Gene=AGO3/NM_024852.3/1;CC=c.2275-156T>G;VC=Intron;Gene=AGO3/NM_177422.2/0;CC=c.1573-156T>G;VC=Intron;DM=AGO3/Piwi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:18:0:0:18:501:58.57:58.57:0.00:1.00:1.00:0.00:60:35.7:0:0:77:73:25:NM_024852.3(EIF2C3) c.2275-156T>G,NM_024852.3(EIF2C3) c.2275-156T>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 36520747 . G . . NT END=36521237;NT GT ./. 1 36521347 . A . . NT END=36550522;NT GT ./. 1 36550679 . G . . NT END=36550763;NT GT ./. 1 36550890 . G . . NT END=36551436;NT GT ./. 1 36551643 . G . . NT END=36552304;NT GT ./. 1 36551895 rs408986 A G 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.0621,G/0.9379;Gene=TEKT2/NM_014466.2/1;CC=c.488+253A>G;VC=Intron;DM=TEKT2/Tektin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:235:26.84:0.00:26.84:1.00:0.00:1.00:60:46.1:0:0:92:57:25:NM_014466.2(TEKT2) c.488+253A>G,NM_014466.2(TEKT2) c.488+253A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 36552449 . G . . NT END=36552531;NT GT ./. 1 36552647 . G . . NT END=36552804;NT GT ./. 1 36552913 . G . . NT END=36553039;NT GT ./. 1 36553184 . G . . NT END=36553328;NT GT ./. 1 36553409 . G . . NT END=36553573;NT GT ./. 1 36553673 rs399393 A G 487 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=A/0.0613,G/0.9387;Gene=TEKT2/NM_014466.2/1;CC=c.1179A>G;ProtCh=p.T393=;VC=Silent;DM=TEKT2/Tektin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:132:94:0:0:132:4242:486.86:236.54:250.32:1.00:1.00:1.00:60:40.8:0:0:70:76:35:NM_014466.2(TEKT2) c.1179A>G (p.(=)),NM_014466.2(TEKT2) c.1179A>G (p.(=)):0.93,0.93:0.920332,0.920332 1 36553788 . C . . NT END=36554505;NT GT ./. 1 36554442 rs11263852 G C 202 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.3301,C/0.6699;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:A,C:58:54:0:0:1,57:11,1750:0.20,201.67:0.00,166.57:0.20,35.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:83.0,46.9:0,0:0,0:14,29:134,122:0,23:NM_017825.2(ADPRHL2) c.-53-u11G>C,NM_017825.2(ADPRHL2) c.-53-u11G>C:0.66,0.66:NOT_FOUND,NOT_FOUND 1 36554717 . G . . NT END=36556844;NT GT ./. 1 36556942 . G . . NT END=36557218;NT GT ./. 1 36557427 . G . . NT END=36557510;NT GT ./. 1 36557696 . G . . NT END=36558022;NT GT ./. 1 36558124 . G . . NT END=36558697;NT GT ./. 1 36558988 . T . . NT END=36563169;NT GT ./. 1 36563158 rs3738360 C A 213 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.3437,A/0.6563,G/.;PC=0.026;Gene=COL8A2/NM_001294347.1/0;CC=c.*12G>T;VC=3UTR;Gene=COL8A2/NM_005202.3/1;CC=c.*12G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:A:59:52:0:0:59:1849:212.91:173.22:39.69:1.00:1.00:1.00:60:42.5:0:0:46:104:26:NM_005202.2(COL8A2) c.*12G>T,NM_005202.2(COL8A2) c.*12G>T:0.65,0.65:0.783869,0.783869 1 36565089 . C . . NT END=36565650;NT GT ./. 1 36565362 rs6693322 T C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5565,C/0.4435;Gene=COL8A2/NM_001294347.1/0;CC=c.-2-274A>G;VC=Intron;Gene=COL8A2/NM_005202.3/1;CC=c.194-274A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:3:0:0:6:165:19.26:11.03:8.23:1.00:1.00:1.00:60:41.3:0:0:31:118:17:NM_005202.2(COL8A2) c.194-274A>G,NM_005202.2(COL8A2) c.194-274A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 36565584 rs274753 C G 150 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.07827,G/0.9217;PC=0.001;Gene=COL8A2/NM_001294347.1/0;CC=c.-3+212G>C;VC=Intron;Gene=COL8A2/NM_005202.3/1;CC=c.193+67G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:35:0:0:39:1313:149.90:123.46:26.44:1.00:1.00:1.00:60:74.5:0:0:41:110:34:NM_005202.2(COL8A2) c.193+67G>C,NM_005202.2(COL8A2) c.193+67G>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 36565617 rs274754 G A 227 nt VT=SNV;PN=C;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.5174,A/0.4826;Gene=COL8A2/NM_001294347.1/0;CC=c.-3+179C>T;VC=Intron;Gene=COL8A2/NM_005202.3/1;CC=c.193+34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:A,C:62:58:0:0:61,1:1985,11:227.12,0.19:185.25,0.19:41.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.9,203.0:0,0:0,0:36,107:112,44:23,0:NM_005202.2(COL8A2) c.193+34C>T,NM_005202.2(COL8A2) c.193+34C>T:0.5,0.5:0.652929,0.652929 1 36565860 . C . . NT END=36581308;NT GT ./. 1 36565999 rs4652900 A G 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5066,G/0.4934;Gene=COL8A2/NM_001294347.1/0;CC=c.-66-140T>C;VC=Intron;Gene=COL8A2/NM_005202.3/1;CC=c.-16-140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:0:0:0:22:667:77.09:0.00:77.09:1.00:0.00:1.00:60:48.6:0:0:114:37:28:NM_005202.2(COL8A2) c.-7-u149T>C,NM_005202.2(COL8A2) c.-7-u149T>C:0.51,0.51:NOT_FOUND,NOT_FOUND 1 36581354 . C . . NT END=36590657;NT GT ./. 1 36590686 . c . . NT END=36591080;NT GT ./. 1 36591251 . T . . NT END=36602803;NT GT ./. 1 36602924 . C . . NT END=36603396;NT GT ./. 1 36602943 rs2231318 C T 216 nt VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.2496,T/0.7504;PC=0.979;Gene=TRAPPC3/NM_001270894.1/0;CC=c.448-20G>A;VC=Intron;Gene=TRAPPC3/NM_001270896.1/0;CC=c.286-20G>A;VC=Intron;Gene=TRAPPC3/NM_001270897.1/0;CC=c.226-20G>A;VC=Intron;Gene=TRAPPC3/NM_014408.4/1;CC=c.424-20G>A;VC=Intron;Gene=TRAPPC3/NR_073097.1/0;VC=NonCoding;Gene=TRAPPC3/NR_073098.1/0;VC=NonCoding;Gene=TRAPPC3/NM_001270895.1/0;CC=c.286-20G>A;VC=Intron;DM=TRAPPC3/TRAPP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:T:59:29:0:0:59:1881:216.08:73.96:142.12:1.00:1.00:1.00:60:38.5:0:0:79:63:26:NM_001270894.1(TRAPPC3) c.448-20G>A,NM_001270894.1(TRAPPC3) c.448-20G>A:0.77,0.77:0.771644,0.771644 1 36603165 rs2296268 G A 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4926,A/0.5074;Gene=TRAPPC3/NM_001270894.1/0;CC=c.447+232C>T;VC=Intron;Gene=TRAPPC3/NM_001270896.1/0;CC=c.285+232C>T;VC=Intron;Gene=TRAPPC3/NM_001270897.1/0;CC=c.225+232C>T;VC=Intron;Gene=TRAPPC3/NM_014408.4/1;CC=c.423+232C>T;VC=Intron;Gene=TRAPPC3/NR_073097.1/0;VC=NonCoding;Gene=TRAPPC3/NR_073098.1/0;VC=NonCoding;Gene=TRAPPC3/NM_001270895.1/0;CC=c.285+232C>T;VC=Intron;DM=TRAPPC3/TRAPP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:4:0:0:11:347:39.94:15.41:24.54:1.00:1.00:1.00:60:38.1:0:0:96:54:41:NM_001270894.1(TRAPPC3) c.447+232C>T,NM_001270894.1(TRAPPC3) c.447+232C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 1 36603290 rs2231317 C T 70 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4926,T/0.5074;Gene=TRAPPC3/NM_001270894.1/0;CC=c.447+107G>A;VC=Intron;Gene=TRAPPC3/NM_001270896.1/0;CC=c.285+107G>A;VC=Intron;Gene=TRAPPC3/NM_001270897.1/0;CC=c.225+107G>A;VC=Intron;Gene=TRAPPC3/NM_014408.4/1;CC=c.423+107G>A;VC=Intron;Gene=TRAPPC3/NR_073097.1/0;VC=NonCoding;Gene=TRAPPC3/NR_073098.1/0;VC=NonCoding;Gene=TRAPPC3/NM_001270895.1/0;CC=c.285+107G>A;VC=Intron;DM=TRAPPC3/TRAPP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G,T:21:18:0:0:1,20:6,609:0.14,70.00:0.14,59.44:0.00,10.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:218.0,39.1:0,0:0,0:9,32:139,118:0,14:NM_001270894.1(TRAPPC3) c.447+107G>A,NM_001270894.1(TRAPPC3) c.447+107G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 36603580 . C . . NT END=36605320;NT GT ./. 1 36605445 . C . . NT END=36605669;NT GT ./. 1 36605768 . C . . NT END=36614692;NT GT ./. 1 36614664 rs58710983 GT G 370 nt VT=DEL;SST=Single;DP=103;DB;DBA=NA;PAF=GT/0.1905,G/0.8095;DB;DBA=NA;PAF=GT/0.1905,G/0.8095;NP=166;Gene=TRAPPC3/NM_001270894.1/0;CC=c.42+273delA;VC=Intron;Gene=TRAPPC3/NM_001270896.1/0;CC=c.-97+28delA;VC=Intron;Gene=TRAPPC3/NM_001270897.1/0;CC=c.42+273delA;VC=Intron;Gene=TRAPPC3/NM_014408.4/1;CC=c.42+273delA;VC=Intron;Gene=TRAPPC3/NR_073097.1/0;VC=NonCoding;Gene=TRAPPC3/NR_073098.1/0;VC=NonCoding;Gene=TRAPPC3/NM_001270895.1/0;CC=c.-97+6819delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:103:98:0:103:103:3207:369.79:307.28:62.50:1.00:1.00:1.00:60:35.8:0:0:42:109:28:NM_001270894.1(TRAPPC3) c.42+273delA,NM_001270894.1(TRAPPC3) c.42+273delA:0.83,0.83:NOT_FOUND,NOT_FOUND 1 36614713 rs10752586 C G 557 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=153;DB;DBA=NA;PAF=C/0.1905,G/0.8095;Gene=TRAPPC3/NM_001270894.1/0;CC=c.42+225G>C;VC=Intron;Gene=TRAPPC3/NM_001270896.1/0;CC=c.-117G>C;VC=5UTR;Gene=TRAPPC3/NM_001270897.1/0;CC=c.42+225G>C;VC=Intron;Gene=TRAPPC3/NM_014408.4/1;CC=c.42+225G>C;VC=Intron;Gene=TRAPPC3/NR_073097.1/0;VC=NonCoding;Gene=TRAPPC3/NR_073098.1/0;VC=NonCoding;Gene=TRAPPC3/NM_001270895.1/0;CC=c.-97+6771G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:153:135:0:0:152,1:4848,17:556.61,0.31:396.73,0.31:159.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,38.0:0,0:0,0:53,60:94,90:25,0:NM_001270894.1(TRAPPC3) c.42+225G>C,NM_001270894.1(TRAPPC3) c.42+225G>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 36614980 . G . . NT END=36622018;NT GT ./. 1 36622065 . G . . NT END=36636571;NT GT ./. 1 36636917 . G . . NT END=36637113;NT GT ./. 1 36637183 . G . . NT END=36638064;NT GT ./. 1 36638229 . G . . NT END=36638964;NT GT ./. 1 36639080 . G . . NT END=36640498;NT GT ./. 1 36640610 . G . . NT END=36641799;NT GT ./. 1 36641729 rs2296263 C T 89 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.5531,T/0.4469;Gene=MAP7D1/NM_001286365.1/0;CC=c.740-71C>T;VC=Intron;Gene=MAP7D1/NM_001286366.1/1;CC=c.851-71C>T;VC=Intron;Gene=MAP7D1/NM_018067.4/0;CC=c.851-71C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:40:0:0:14,28:479,876:0.00,89.30:0.00,67.27:0.00,22.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,42.0:0,0:0,0:41,33:107,111:29,25:-,NM_018067.3(MAP7D1) c.851-71C>T:-,0.48:-,NOT_FOUND 1 36642183 . G . . NT END=36642297;NT GT ./. 1 36642420 rs475591 T C 138 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=T/0.2496,A/.,C/0.7504,G/.;Gene=MAP7D1/NM_001286365.1/0;CC=c.1245T>C;ProtCh=p.S415=;VC=Silent;Gene=MAP7D1/NM_001286366.1/1;CC=c.1260T>C;ProtCh=p.S420=;VC=Silent;Gene=MAP7D1/NM_018067.4/0;CC=c.1356T>C;ProtCh=p.S452=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:111:57:0:0:49,62:1480,2052:138.19,0.00:36.53,0.00:101.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,13.4:0,0:0,0:93,101:48,45:32,22:NM_018067.3(MAP7D1) c.=,-:0.76,-:0.662089,- 1 36642444 . G . . NT END=36643473;NT GT ./. 1 36643803 . G . . NT END=36644019;NT GT ./. 1 36644198 . G . . NT END=36644285;NT GT ./. 1 36644425 . G . . NT END=36644521;NT GT ./. 1 36644627 . G . . NT END=36644862;NT GT ./. 1 36644663 . T G 10 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=80;Gene=MAP7D1/NM_001286365.1/0;CC=c.2019+37T>G;VC=Intron;Gene=MAP7D1/NM_001286366.1/1;CC=c.2034+37T>G;VC=Intron;Gene=MAP7D1/NM_018067.4/0;CC=c.2130+37T>G;VC=Intron;DM=MAP7D1/MAP7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,C,G,T:80:36:0:0:1,1,14,64:13,8,193,1726:-0.11,-0.26,10.28,0.00:-0.16,-0.09,-2.24,0.00:0.05,-0.17,12.52,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:140.0,50.0,83.1,33.2:0,0,0,1:0,0,0,0:6,131,45,124:145,20,103,22:0,0,24,21:NM_018067.3(MAP7D1) c.2130+37T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 36644917 . G . . NT END=36645112;NT GT ./. 1 36645159 . G . . NT END=36645266;NT GT ./. 1 36645358 . G . . NT END=36645474;NT GT ./. 1 36645669 . G . . NT END=36645848;NT GT ./. 1 36645860 . G . . NT END=36748164;NT GT ./. 1 36715286 rs112896222 A AGTGTGT 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=11;NP=3;NP=3;NP=3;NP=7;PC=0.137;Gene=THRAP3/NM_005119.3/1;CC=c.-134-9662_-134-9661insTGTGTG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,AGTGTGT:5:5:4:0:2,3:48,133:0.00,9.93:0.00,4.92:0.00,5.02:0.00,0.73:0.00,0.96:0.00,0.73:60,60:52.0,6.3:0,1:0,0:111,63:35,88:5,8:-,NM_005119.3(THRAP3) c.-134-9697_-134-9696insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 36747997 rs397862513 AT A 14 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;PC=0.494;Gene=THRAP3/NM_005119.3/1;CC=c.-31-121delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:AT,I,A:14:15:1:6:8,1,5:243,33,182:0.00,2.36,13.79:0.00,2.36,13.79:0.00,0.00,0.00:0.00,0.00,0.89:0.00,0.00,0.89:0.00,0.00,0.00:60,60,70:67.1,23.0,68.6:0,0,1:0,0,0:35,50,37:112,100,113:21,0,30:-,NM_005119.3(THRAP3) c.-31-136delT:-,NOT_FOUND:-,NOT_FOUND 1 36748302 . G . . NT END=36751968;NT GT ./. 1 36752152 rs2242428 C T 264 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=C/0.7524,T/0.2476;PC=1.000;Gene=THRAP3/NM_005119.3/1;CC=c.321C>T;ProtCh=p.Y107=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:155:111:0:0:1,68,86:13,2130,2692:-0.05,0.00,264.21:0.02,0.00,152.94:-0.07,0.00,111.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:38.0,5.2,37.4:0,0,0:0,0,0:58,68,83:91,82,66:0,41,35:-,NM_005119.3(THRAP3) c.321C>T (p.(=)):-,0.23:-,0.301015 1 36752433 rs6425977 C T 476 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.2045,T/0.7955;PC=0.024;Gene=THRAP3/NM_005119.3/1;CC=c.602C>T;ProtCh=p.A201V;VC=Missense;DM=THRAP3/THRAP3_BCLAF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:137:92:0:0:137:4109:475.82:250.10:225.72:1.00:1.00:1.00:60:35.6:0:0:69:81:31:NM_005119.3(THRAP3) c.602C>T (p.Ala201Val),NM_005119.3(THRAP3) c.602C>T (p.Ala201Val):0.82,0.82:0.781255,0.781255 1 36752872 . G . . NT END=36753076;NT GT ./. 1 36753473 . G . . NT END=36753666;NT GT ./. 1 36753664 rs7533278 G A 219 nt VT=SNV;PN=C;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.07408,A/0.9259;Gene=THRAP3/NM_005119.3/1;CC=c.1040+793G>A;VC=Intron;DM=THRAP3/THRAP3_BCLAF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A,G:62:34:0:0:61,1:1916,5:219.33,0.00:95.12,0.00:124.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.2,107.0:0,0:0,0:57,86:88,65:29,0:NM_005119.3(THRAP3) c.1040+793G>A,NM_005119.3(THRAP3) c.1040+793G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 36753783 . t . . NT END=36753963;NT GT ./. 1 36754467 rs6425978 G C 347 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.07388,C/0.9261;Gene=THRAP3/NM_005119.3/1;CC=c.1041-194G>C;VC=Intron;DM=THRAP3/THRAP3_BCLAF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:94:59:0:0:1,93:9,3037:0.09,347.50:0.00,188.79:0.09,158.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.0,61.4:0,0:0,0:70,58:81,87:0,32:NM_005119.3(THRAP3) c.1041-194G>C,NM_005119.3(THRAP3) c.1041-194G>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 36754522 rs6425979 C A 373 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.07408,A/0.9259;Gene=THRAP3/NM_005119.3/1;CC=c.1041-139C>A;VC=Intron;DM=THRAP3/THRAP3_BCLAF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:99:65:0:0:99:3261:373.29:201.13:172.16:1.00:1.00:1.00:60:60.0:0:0:82:64:34:NM_005119.3(THRAP3) c.1041-139C>A,NM_005119.3(THRAP3) c.1041-139C>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 36754537 . G . . NT END=36754660;NT GT ./. 1 36755366 . G . . NT END=36756974;NT GT ./. 1 36757148 . G . . NT END=36758198;NT GT ./. 1 36758061 rs11576244 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7594,T/0.2406;PC=0.118;Gene=THRAP3/NM_005119.3/1;CC=c.1919-138C>T;VC=Intron;DM=THRAP3/THRAP3_BCLAF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:16:16:0:0:5,11:168,326:0.00,33.47:0.00,31.56:0.00,1.91:0.00,1.00:0.00,1.00:0.00,0.79:60,60:2.6,32.3:0,0:0,0:29,24:122,91:24,19:-,NM_005119.3(THRAP3) c.1919-138C>T:-,0.22:-,NOT_FOUND 1 36758311 . G . . NT END=36759451;NT GT ./. 1 36759241 rs57825127 C CTGTGTGTG 7 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=25;Gene=THRAP3/NM_005119.3/1;CC=c.2031-172_2031-171insGTGTGTGT;VC=Intron;DM=THRAP3/THRAP3_BCLAF1;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,CTGTGTGTG:7:9:5:0:4,3:112,148:0.00,7.40:0.00,6.65:0.00,0.75:0.00,0.64:0.00,0.64:0.00,0.56:60,60:50.8,38.3:0,2:0,0:98,62:38,88:14,23:-,NM_005119.3(THRAP3) c.2031-211_2031-210insTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 36759537 . G . . NT END=36759650;NT GT ./. 1 36759843 . G . . NT END=36762183;NT GT ./. 1 36762372 . G . . NT END=36766486;NT GT ./. 1 36762396 rs1566589 C T 216 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.07388,T/0.9261;Gene=THRAP3/NM_005119.3/1;CC=c.2303+25C>T;VC=Intron;DM=THRAP3/THRAP3_BCLAF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:C,T:61:21:0:0:1,60:10,1895:0.00,216.33:0.00,46.05:0.00,170.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:139.0,41.9:0,0:0,0:83,105:61,43:0,25:NM_005119.3(THRAP3) c.2303+25C>T,NM_005119.3(THRAP3) c.2303+25C>T:0.94,0.94:0.940181,0.940181 1 36766686 . G . . NT END=36767153;NT GT ./. 1 36766975 rs10908293 G C 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.2055,C/0.7945;Gene=THRAP3/NM_005119.3/1;CC=c.2503-179G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:24:0:0:30:997:113.99:90.33:23.66:1.00:1.00:1.00:60:42.9:0:0:67:84:38:NM_005119.3(THRAP3) c.2503-179G>C,NM_005119.3(THRAP3) c.2503-179G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 36767298 . G . . NT END=36769396;NT GT ./. 1 36767400 rs882799 C T 141 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.2057,T/0.7943;Gene=THRAP3/NM_005119.3/1;CC=c.2646+103C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A,T:40:4:0:0:1,39:14,1228:0.44,140.85:0.00,11.15:0.44,129.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.0,41.5:0,0:0,0:146,98:5,52:0,36:NM_005119.3(THRAP3) c.2646+103C>T,NM_005119.3(THRAP3) c.2646+103C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 36769619 . G . . NT END=36772021;NT GT ./. 1 36772026 . G . . NT END=36772198;NT GT ./. 1 36772357 . G . . NT END=36772442;NT GT ./. 1 36772507 . G . . NT END=36772707;NT GT ./. 1 36772887 . G . . NT END=36773117;NT GT ./. 1 36773209 . G . . NT END=36773370;NT GT ./. 1 36773405 rs35343437 T G 143 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.5789,G/0.4211;Gene=SH3D21/NM_001162530.1/1;CC=c.471T>G;ProtCh=p.P157=;VC=Silent;Gene=SH3D21/NM_024676.4/0;CC=c.138T>G;ProtCh=p.P46=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:115:83:0:0:1,52,62:11,1528,1980:-0.13,143.39,0.00:-0.01,96.22,0.00:-0.12,47.17,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:87.0,43.9,13.3:0,0,0:0,0,0:108,54,72:31,94,71:0,32,37:NM_001162530.1(SH3D21) c.471T>G (p.(=)),-:0.47,-:0.399474,- 1 36773427 . G . . NT END=36773518;NT GT ./. 1 36773565 . G . . NT END=36773709;NT GT ./. 1 36773811 . G . . NT END=36773989;NT GT ./. 1 36773819 rs11263871 C G 253 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.07288,G/0.9271;PC=0.045;Gene=SH3D21/NM_001162530.1/1;CC=c.639+9C>G;VC=Intron;Gene=SH3D21/NM_024676.4/0;CC=c.306+9C>G;VC=Intron;DM=SH3D21/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:38:0:0:68:2207:253.08:109.32:143.76:1.00:1.00:1.00:60:46.0:0:0:103:45:24:NM_001162530.1(SH3D21) c.639+9C>G,NM_001162530.1(SH3D21) c.639+9C>G:0.94,0.94:0.945028,0.945028 1 36774077 . G . . NT END=36775148;NT GT ./. 1 36775192 . G . . NT END=36784671;NT GT ./. 1 36784766 . G . . NT END=36784860;NT GT ./. 1 36784914 . G . . NT END=36785042;NT GT ./. 1 36785138 . G . . NT END=36785275;NT GT ./. 1 36786136 . CAA C 224 PASS VT=DEL;SST=Single;DP=192;NP=4;PC=0.001;Gene=SH3D21/NM_001162530.1/1;CC=c.1874_1875delAA;ProtCh=p.K625Rfs*12;VC=FrameShiftDel;Gene=SH3D21/NM_024676.4/0;CC=c.1541_1542delAA;ProtCh=p.K514Rfs*12;VC=FrameShiftDel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,G,C:192:129:0:80:113,1,78:3625,9,2433:0.00,-0.20,224.41:0.00,-0.10,122.48:0.00,-0.10,101.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.1,85.0,10.6:0,0,0:0,0,0:74,39,71:76,112,78:39,0,36:-,NM_001162530.1(SH3D21) c.1873A[1] (p.Lys625Argfs*12):-,NOT_FOUND:-,0.001198 1 36786400 . G . . NT END=36786515;NT GT ./. 1 36786580 . G . . NT END=36786656;NT GT ./. 1 36786949 . C . . NT END=36787324;NT GT ./. 1 36786975 . T C 8 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=59;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:C,T:59:22:0:0:10,49:151,1327:8.43,0.00:-1.49,0.00:9.92,0.00:0.99,0.00:0.95,0.00:1.00,0.00:60,60:101.4,20.6:0,0:0,0:48,127:88,22:25,16:XR_159042.1(LOC100127947) n.-2128T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 36786989 . A G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;PC=0.120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,G:49:18:0:0:41,8:1079,123:0.00,6.78:0.00,-1.16:0.00,7.94:0.00,0.96:0.00,0.91:0.00,0.99:60,60:31.0,115.1:0,0:0,0:110,68:31,68:31,19:-,XR_159042.1(LOC100127947) n.-2114A>G:-,NOT_FOUND:-,NOT_FOUND 1 36787294 rs10796881 G A 435 nt VT=SNV;PN=G;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.2087,A/0.7913;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:119:110:0:0:119:3786:435.15:352.33:82.82:1.00:1.00:1.00:60:42.2:0:0:42:100:33:XR_159042.1(LOC100127947) n.-1809G>A,XR_159042.1(LOC100127947) n.-1809G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 36787614 . C . . NT END=36787895;NT GT ./. 1 36787888 rs58971913 G A 226 nt VT=SNV;PN=C;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=G/0.7654,A/0.2346;Gene=EVA1B/NM_001304762.1/0;CC=c.*8C>T;VC=3UTR;Gene=EVA1B/NR_130899.1/0;VC=NonCoding;Gene=EVA1B/NM_018166.2/1;CC=c.*8C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:135:116:0:0:72,63:2325,1789:226.50,0.00:146.97,0.00:79.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,11.0:0,0:0,0:56,43:87,105:28,27:NM_018166.1(EVA1B) c.=,-:0.22,-:0.269665,- 1 36788327 . C . . NT END=36788571;NT GT ./. 1 36788356 rs7536394 A G 464 nt VT=SNV;PN=G;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=A/0.02576,G/0.9742;Gene=EVA1B/NM_001304762.1/0;CC=c.68-30T>C;VC=Intron;Gene=EVA1B/NR_130899.1/0;VC=NonCoding;Gene=EVA1B/NM_018166.2/1;CC=c.68-30T>C;VC=Intron;DM=EVA1B/FAM176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:128:58:0:0:1,127:5,4036:0.02,463.55:0.00,140.50:0.02,323.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:122.0,44.9:0,0:0,0:78,107:36,40:0,22:NM_018166.1(EVA1B) c.68-30T>C,NM_018166.1(EVA1B) c.68-30T>C:0.97,0.97:0.988743,0.988743 1 36788639 . G . . NT END=36793320;NT GT ./. 1 36793482 . C . . NT END=36807355;NT GT ./. 1 36807481 rs3795498 C T 319 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=C/0.8209,T/0.1791;PC=1.000;Gene=STK40/NM_001282546.1/0;CC=c.1198G>A;ProtCh=p.A400T;VC=Missense;Gene=STK40/NM_001282547.1/0;CC=c.1183G>A;ProtCh=p.A395T;VC=Missense;Gene=STK40/NM_032017.2/1;CC=c.1183G>A;ProtCh=p.A395T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:204:125:0:0:1,100,103:31,3275,3309:1.08,0.00,318.84:-0.09,0.00,116.74:1.17,0.00,202.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:110.0,4.4,36.9:0,0,0:0,0,0:46,87,76:105,58,72:0,28,37:-,NM_032017.1(STK40) c.1183G>A (p.Ala395Thr):-,0.17:-,0.233354 1 36807575 . C . . NT END=36808964;NT GT ./. 1 36809050 . C . . NT END=36809460;NT GT ./. 1 36809581 . C . . NT END=36809720;NT GT ./. 1 36809698 . A C 23 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=96;NP=2;Gene=STK40/NM_001282546.1/0;CC=c.899+23T>G;VC=Intron;Gene=STK40/NM_001282547.1/0;CC=c.884+23T>G;VC=Intron;Gene=STK40/NM_032017.2/1;CC=c.884+23T>G;VC=Intron;DM=STK40/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,C,G,T:96:31:0:0:77,16,2,1:1728,340,21,11:0.00,23.30,-0.28,-0.21:0.00,27.12,-0.11,-0.05:0.00,-3.82,-0.17,-0.15:0.00,1.00,0.00,0.00:0.00,0.99,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:10.9,92.3,84.0,63.0:0,0,0,0:0,0,0,0:75,101,42,27:74,31,96,124:38,17,6,0:-,NM_032017.1(STK40) c.884+23T>G:-,NOT_FOUND:-,NOT_FOUND 1 36809866 . C . . NT END=36814300;NT GT ./. 1 36810011 rs4653181 G A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.7851,A/0.2149;Gene=STK40/NM_001282546.1/0;CC=c.755-146C>T;VC=Intron;Gene=STK40/NM_001282547.1/0;CC=c.740-146C>T;VC=Intron;Gene=STK40/NM_032017.2/1;CC=c.740-146C>T;VC=Intron;DM=STK40/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:35:1:0:0:16,2,17:370,27,561:34.59,0.96,0.00:-0.13,-0.01,0.00:34.72,0.97,0.00:1.00,0.00,0.00:0.64,0.00,0.00:1.00,0.00,0.00:60,60,60:39.1,40.5,16.1:0,0,0:0,0,0:122,51,111:28,99,40:22,5,25:NM_032017.1(STK40) c.740-146C>T,-:0.24,-:NOT_FOUND,- 1 36814417 . C . . NT END=36819964;NT GT ./. 1 36820018 . C . . NT END=36820806;NT GT ./. 1 36821035 . C . . NT END=36823839;NT GT ./. 1 36823984 . C . . NT END=36824337;NT GT ./. 1 36824439 . C . . NT END=36826821;NT GT ./. 1 36826942 . C . . NT END=36833448;NT GT ./. 1 36833463 . G . . NT END=36859358;NT GT ./. 1 36853369 rs5773522 GAC G 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=177;PC=0.001;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:GAC,G:5:4:0:3:2,3:70,96:0.00,9.57:0.00,6.51:0.00,3.06:0.00,0.78:0.00,0.97:0.00,0.94:60,60:34.0,0.0:0,0:0,0:44,65:63,86:3,0:-,NM_032017.1(STK40) c.-407-u1886_-407-u1885delGT:-,NOT_FOUND:-,NOT_FOUND 1 36859731 . T . . NT END=36883739;NT GT ./. 1 36883857 . C . . NT END=36884591;NT GT ./. 1 36883946 rs16822888 T C 50 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.6134,C/0.3866;Gene=OSCP1/NM_145047.4/1;CC=c.1024-90A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:4:0:0:18,20:526,667:49.76,0.00:1.36,0.00:48.41,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:35.0,12.4:0,0:0,0:118,111:33,40:29,26:NM_145047.4(OSCP1) c.1024-90A>G,-:0.38,-:NOT_FOUND,- 1 36884530 rs72663495 G CA 15 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=4;Gene=OSCP1/NM_145047.4/1;CC=c.1023+61_1023+62insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:G,CA,D:13:14:6:1:7,5,1:221,197,28:0.00,15.11,1.91:0.00,11.78,1.92:0.00,3.33,-0.02:0.00,0.90,0.00:0.00,0.90,0.00:0.00,0.76,0.00:60,70,60:3.4,22.8,25.0:0,1,0:0,0,0:32,47,41:114,103,110:17,25,0:-,NM_145047.4(OSCP1) c.1023+62delCinsTG:-,NOT_FOUND:-,NOT_FOUND 1 36884656 . C . . NT END=36886076;NT GT ./. 1 36886117 rs2275477 C T 111 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.747,T/0.253;PC=0.998;Gene=OSCP1/NM_145047.4/1;CC=c.919G>A;ProtCh=p.G307R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:53:0:0:38,34:1165,1160:0.00,110.66:0.00,76.18:0.00,34.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,39.8:0,0:0,0:53,66:89,75:27,38:-,NM_145047.4(OSCP1) c.919G>A (p.Gly307Arg):-,0.23:-,0.248116 1 36886217 . C . . NT END=36887750;NT GT ./. 1 36886364 rs2275478 C G 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3055,G/0.6945;PC=0.021;Gene=OSCP1/NM_145047.4/1;CC=c.820-148G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:0:0:0:10,16:272,529:0.00,53.01:0.00,0.00:0.00,53.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.5,39.9:0,0:0,0:137,93:13,52:8,28:-,NM_145047.4(OSCP1) c.820-148G>C:-,0.65:-,NOT_FOUND 1 36887702 rs2236565 C T 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.2933,T/0.7067;Gene=OSCP1/NM_145047.4/1;CC=c.819+49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:33:0:0:20,15:635,472:0.00,43.94:0.00,33.43:0.00,10.51:0.00,1.00:0.00,1.00:0.00,0.69:60,60:13.1,41.2:0,0:0,0:26,56:124,95:17,17:-,NM_145047.4(OSCP1) c.819+49G>A:-,0.67:-,0.703906 1 36887821 . C . . NT END=36888368;NT GT ./. 1 36888302 . CTT C 11 idl,rn VT=DEL;SST=Single;DP=40;PC=0.044;Gene=OSCP1/NM_145047.4/1;CC=c.749+65_749+66delAA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:CTT,C:36:36:0:10:31,5:1046,258:0.00,11.08:0.00,8.53:0.00,2.55:0.00,0.76:0.00,0.97:0.00,0.77:60,60:13.0,88.2:0,4:0,0:40,44:110,97:28,30:-,NM_145047.4(OSCP1) c.749+65_749+66delAA:-,NOT_FOUND:-,NOT_FOUND 1 36888498 . C . . NT END=36888963;NT GT ./. 1 36889068 . C . . NT END=36893834;NT GT ./. 1 36893790 . C CAAA 9 idl,rn VT=INS;SST=Single;DP=14;NP=1;NP=2;PC=0.052;Gene=OSCP1/NM_145047.4/1;CC=c.516+3612_516+3613insTTT;VC=Intron;DM=OSCP1/Oscp1;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,CAAA,D:10:14:5:3:6,3,1:183,168,100:0.00,8.90,2.34:0.00,8.90,2.34:0.00,0.00,0.00:0.00,0.56,0.00:0.00,0.56,0.00:0.00,0.00,0.00:60,70,60:31.5,28.0,0.0:0,2,2:0,0,0:113,77,100:37,74,51:27,29,11:-,NM_145047.4(OSCP1) c.516+3612_516+3613insTTT:-,NOT_FOUND:-,NOT_FOUND 1 36893954 . A . . NT END=36897402;NT GT ./. 1 36897484 . C . . NT END=36898022;NT GT ./. 1 36898067 rs34409118 T C 102 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.7919,C/0.2081;PC=0.980;Gene=OSCP1/NM_145047.4/1;CC=c.391A>G;ProtCh=p.T131A;VC=Missense;Gene=OSCP1/NM_206837.2/0;CC=c.391A>G;ProtCh=p.T131A;VC=Missense;DM=OSCP1/Oscp1;DM=OSCP1/Oscp1;DM=OSCP1/Oscp1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:68:55:0:0:1,31,36:10,1069,1118:-0.09,101.61,0.00:-0.15,59.59,0.00:0.06,42.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.0,41.8,6.8:0,0,0:0,0,0:17,74,59:134,76,83:0,43,29:NM_145047.4(OSCP1) c.391A>G (p.Thr131Ala),-:0.19,-:0.202214,- 1 36898191 . C . . NT END=36904356;NT GT ./. 1 36898332 rs61772386 C T 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7919,T/0.2081;Gene=OSCP1/NM_145047.4/1;CC=c.268-142G>A;VC=Intron;Gene=OSCP1/NM_206837.2/0;CC=c.268-142G>A;VC=Intron;DM=OSCP1/Oscp1;DM=OSCP1/Oscp1;DM=OSCP1/Oscp1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:13:0:0:0:9,4:295,127:0.00,11.12:0.00,0.00:0.00,11.12:0.00,0.79:0.00,0.00:0.00,0.79:60,60:4.3,31.8:0,0:0,0:56,91:94,60:23,14:-,NM_145047.4(OSCP1) c.268-142G>A:-,0.19:-,NOT_FOUND 1 36904512 . C . . NT END=36909604;NT GT ./. 1 36909635 . C . . NT END=36915858;NT GT ./. 1 36915971 . G . . NT END=36921388;NT GT ./. 1 36921371 rs1538634 G T 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.7648,T/0.2352;PC=0.074;Gene=MRPS15/NM_031280.3/1;CC=c.*18C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:56:44:0:0:1,27,28:8,884,834:-0.11,0.00,80.12:-0.17,0.00,53.25:0.06,0.00,26.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:43.0,20.3,37.8:0,0,0:0,0,0:78,29,39:35,122,111:0,17,28:-,NM_031280.3(MRPS15) c.*18C>A:-,0.27:-,0.234046 1 36921527 . C . . NT END=36921787;NT GT ./. 1 36921980 . C . . NT END=36923523;NT GT ./. 1 36923583 . C . . NT END=36926292;NT GT ./. 1 36926378 . C . . NT END=36926864;NT GT ./. 1 36926445 rs3738839 C T 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=MRPS15/NM_031280.3/1;CC=c.301-68G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:9:0:0:20,9:605,291:0.00,25.60:0.00,4.34:0.00,21.27:0.00,0.99:0.00,0.94:0.00,1.00:60,60:21.1,39.0:0,0:0,0:113,117:38,33:24,13:-,NM_031280.3(MRPS15) c.301-68G>A:-,0.31:-,NOT_FOUND 1 36926914 . C . . NT END=36927688;NT GT ./. 1 36927530 rs78245381 A C 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7214,C/0.2786;PC=0.001;Gene=MRPS15/NM_031280.3/1;CC=c.251+159T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,C:12:11:0:0:8,4:263,128:0.00,11.39:0.00,11.57:0.00,-0.18:0.00,0.80:0.00,0.98:0.00,0.56:60,60:4.5,53.8:0,0:0,0:42,81:108,69:38,27:-,NM_031280.3(MRPS15) c.251+159T>G:-,0.31:-,NOT_FOUND 1 36927733 rs7065 G A 76 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.02137,A/0.9786;PC=0.996;Gene=MRPS15/NM_031280.3/1;CC=c.207C>T;ProtCh=p.P69=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:56:36:0:0:24,31,1:813,1033,10:76.39,0.00,-0.08:33.45,0.00,0.06:42.94,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.8,5.4,79.0:0,0,0:0,0,0:84,90,107:58,60,43:29,20,0:NM_031280.3(MRPS15) c.207C>T (p.(=)),-:0.97,-:0.947409,- 1 36927765 . C . . NT END=36929406;NT GT ./. 1 36929452 . C . . NT END=36929746;NT GT ./. 1 36929877 . G . . NT END=36931696;NT GT ./. 1 36932510 . C . . NT END=36932830;NT GT ./. 1 36932913 . C . . NT END=36933158;NT GT ./. 1 36933253 . C . . NT END=36933422;NT GT ./. 1 36933564 . C . . NT END=36933675;NT GT ./. 1 36933823 . C . . NT END=36934756;NT GT ./. 1 36934859 . C . . NT END=36935252;NT GT ./. 1 36935442 . C . . NT END=36937033;NT GT ./. 1 36937248 . C . . NT END=36937666;NT GT ./. 1 36937741 . C . . NT END=36937838;NT GT ./. 1 36937993 . C . . NT END=36938117;NT GT ./. 1 36938288 . C . . NT END=36939035;NT GT ./. 1 36939224 . C . . NT END=36939364;NT GT ./. 1 36939489 . C . . NT END=36940977;NT GT ./. 1 36941275 . C . . NT END=36945033;NT GT ./. 1 36945098 . A . . NT END=37267451;NT GT ./. 1 36996359 rs4587534 T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7887,G/0.2113;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:G,T:4:2:0:0:3,1:98,35:10.25,0.00:7.20,0.00:3.05,0.00:0.85,0.00:0.95,0.00:0.95,0.00:60,60:39.3,0.0:0,0:0,0:80,27:71,123:31,0:chr1 g.36996358T>G (intergenic),-:0.2,-:NOT_FOUND,- 1 37267647 . C . . NT END=37270587;NT GT ./. 1 37270839 . C . . NT END=37271704;NT GT ./. 1 37271928 . C . . NT END=37282660;NT GT ./. 1 37282879 . C . . NT END=37285336;NT GT ./. 1 37285456 . C . . NT END=37291203;NT GT ./. 1 37291428 . C . . NT END=37307336;NT GT ./. 1 37307541 . C . . NT END=37315911;NT GT ./. 1 37316026 . C . . NT END=37319215;NT GT ./. 1 37319324 . C . . NT END=37324708;NT GT ./. 1 37324853 . C . . NT END=37325444;NT GT ./. 1 37325619 . C . . NT END=37335348;NT GT ./. 1 37335403 . C . . NT END=37337788;NT GT ./. 1 37335458 rs577094 A G 166 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.08247,G/0.9175;Gene=GRIK3/NM_000831.3/1;CC=c.733-56T>C;VC=Intron;DM=GRIK3/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:20:0:0:44:1450:165.90:41.99:123.90:1.00:1.00:1.00:60:100.3:0:0:97:54:25:NM_000831.3(GRIK3) c.733-56T>C,NM_000831.3(GRIK3) c.733-56T>C:0.92,0.92:0.881735,0.881735 1 37335485 rs509284 A G 132 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.08247,G/0.9175;Gene=GRIK3/NM_000831.3/1;CC=c.733-83T>C;VC=Intron;DM=GRIK3/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:13:0:0:34:1154:131.58:27.44:104.14:1.00:1.00:1.00:60:117.1:0:0:111:38:27:NM_000831.3(GRIK3) c.733-83T>C,NM_000831.3(GRIK3) c.733-83T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 37335494 rs577813 G T 119 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.08247,T/0.9175;PC=0.015;Gene=GRIK3/NM_000831.3/1;CC=c.733-92C>A;VC=Intron;DM=GRIK3/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:12:0:0:31:1041:118.88:25.79:93.10:1.00:1.00:1.00:60:121.6:0:0:115:36:29:NM_000831.3(GRIK3) c.733-92C>A,NM_000831.3(GRIK3) c.733-92C>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 37335551 rs3738085 G A 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.1436,A/0.8564;Gene=GRIK3/NM_000831.3/1;CC=c.733-149C>T;VC=Intron;DM=GRIK3/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:0:0:0:14:464:53.08:0.00:53.08:1.00:0.00:1.00:60:122.9:0:0:105:45:30:NM_000831.3(GRIK3) c.733-149C>T,NM_000831.3(GRIK3) c.733-149C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 1 37337971 . C . . NT END=37346234;NT GT ./. 1 37346493 . C . . NT END=37356520;NT GT ./. 1 37356698 . C . . NT END=37499594;NT GT ./. 1 37499710 . C . . NT END=37941097;NT GT ./. 1 37568312 rs3765421 C A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9862,G/0.01378,T/.;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C:4:4:0:0:2,2:68,66:6.55,0.00:6.55,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:34.0,33.0:0,0:0,0:38,63:111,86:0,42:chr1 g.37568311C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 37568452 rs199864874 A G 15 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.763,G/0.237;NP=11;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,G:7:6:0:0:2,5:44,146:0.00,15.20:0.00,14.16:0.00,1.04:0.00,0.98:0.00,1.00:0.00,0.98:60,60:111.5,83.0:0,0:0,0:70,43:75,107:58,37:-,chr1 g.37568451A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 37568535 rs849948 T A 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=138;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:8:0:0:9:273:31.59:17.88:13.70:1.00:1.00:1.00:60:168.6:0:0:95:56:12:chr1 g.37568534T>A (intergenic),chr1 g.37568534T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 37568563 rs369817658 A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;PC=0.239 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:9:6:0:0:5,4:141,134:0.00,12.63:0.00,2.81:0.00,9.82:0.00,0.85:0.00,0.96:0.00,0.97:60,60:126.6,174.8:0,0:0,0:86,129:53,14:26,10:-,chr1 g.37568562A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 37568572 rs849946 A G 9 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.363 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:8:5:0:0:5,3:141,98:0.00,8.94:0.00,1.16:0.00,7.77:0.00,0.67:0.00,0.90:0.00,0.93:60,53:126.6,192.0:0,0:0,0:95,132:44,16:26,12:-,chr1 g.37568571A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 37941541 . G . . NT END=37944416;NT GT ./. 1 37945527 . G . . NT END=37945890;NT GT ./. 1 37946031 . G . . NT END=37947201;NT GT ./. 1 37947437 . G . . NT END=37948034;NT GT ./. 1 37948142 . G . . NT END=37948337;NT GT ./. 1 37948212 rs215205 C G 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.6659,G/0.3341;Gene=ZC3H12A/NM_025079.2/1;CC=c.925+71C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:63:32:0:0:34,29:1102,910:0.00,85.87:0.00,31.64:0.00,54.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.6,51.5:0,0:0,0:81,68:70,82:31,25:-,NM_025079.2(ZC3H12A) c.925+71C>G:-,0.25:-,NOT_FOUND 1 37949213 . G . . NT END=37959369;NT GT ./. 1 37951995 rs1395721 G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8872,A/0.1128;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:0:0:0:3,1:80,32:8.44,0.00:0.00,0.00:8.44,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:50.0,9.0:0,0:0,0:32,129:119,22:25,0:chr1 g.37951994G>A (intergenic),-:0.12,-:NOT_FOUND,- 1 37959450 rs215210 T C 194 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.2696,A/.,C/0.7304;Gene=MEAF6/NM_001270875.1/0;CC=c.*250A>G;VC=3UTR;Gene=MEAF6/NM_001270876.1/0;CC=c.534-35A>G;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.*250A>G;VC=3UTR;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:C,T:59:46:0:0:58,1:1690,26:194.27,0.00:125.58,0.00:68.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.2,71.0:0,0:0,0:81,71:68,77:27,0:NM_022756.5(MEAF6) c.*250A>G,NM_022756.5(MEAF6) c.*250A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 37959470 rs215211 C G 225 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.2518,G/0.7482;PC=0.078;Gene=MEAF6/NM_001270875.1/0;CC=c.*230G>C;VC=3UTR;Gene=MEAF6/NM_001270876.1/0;CC=c.534-55G>C;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.*230G>C;VC=3UTR;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:C,G:59:44:0:0:1,58:10,1993:0.00,225.20:0.00,131.10:0.00,94.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:206.0,77.2:0,0:0,0:137,79:12,72:0,29:NM_022756.5(MEAF6) c.*230G>C,NM_022756.5(MEAF6) c.*230G>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 37959499 rs215212 G C 95 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.8137,C/0.1863;PC=1.000;Gene=MEAF6/NM_001270875.1/0;CC=c.*201C>G;VC=3UTR;Gene=MEAF6/NM_001270876.1/0;CC=c.534-84C>G;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.*201C>G;VC=3UTR;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:63:46:0:0:29,34:999,1143:94.85,0.00:50.12,0.00:44.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.3,52.8:0,0:0,0:80,70:71,79:41,38:NM_022756.5(MEAF6) c.*201C>G,-:0.22,-:NOT_FOUND,- 1 37959709 . C . . NT END=37961485;NT GT ./. 1 37961297 rs61058093 AC A 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=42;PC=0.004;Gene=MEAF6/NM_001270875.1/0;CC=c.567+188delG;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.534-1883delG;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.597+188delG;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:AC,A:6:6:0:5:3,3:98,94:0.00,9.02:0.00,9.02:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:80.3,35.3:2,0:0,0:10,13:141,137:3,0:-,NM_022756.5(MEAF6) c.597+188delG:-,NOT_FOUND:-,NOT_FOUND 1 37961317 rs215213 A C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=311;PC=0.001;Gene=MEAF6/NM_001270875.1/0;CC=c.567+169T>G;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.534-1902T>G;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.597+169T>G;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,C:11:11:0:0:5,6:103,181:0.00,17.69:0.00,17.69:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:72.8,34.5:0,0:0,0:61,24:90,126:35,9:-,NM_022756.5(MEAF6) c.597+169T>G:-,NOT_FOUND:-,NOT_FOUND 1 37961520 . C . . NT END=37962147;NT GT ./. 1 37961613 rs2294873 A G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8682,G/0.1318;PC=1.000;Gene=MEAF6/NM_001270875.1/0;CC=c.534-94T>C;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.534-2198T>C;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.564-94T>C;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:5:0:0:10,7:307,224:0.00,20.73:0.00,2.02:0.00,18.71:0.00,0.98:0.00,0.92:0.00,1.00:60,60:4.7,37.0:0,0:0,0:125,67:25,83:16,13:-,NM_022756.5(MEAF6) c.564-94T>C:-,0.14:-,NOT_FOUND 1 37962206 . C . . NT END=37962307;NT GT ./. 1 37962338 . C . . NT END=37967404;NT GT ./. 1 37967598 . C . . NT END=37974878;NT GT ./. 1 37967707 rs57320145 ATTGACAGAGAAGATACATG A 32 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=ATTGACAGAGAAGATACATG/0.5611,A/0.4389;DB;DBA=NA;PAF=ATTGACAGAGAAGATACATG/0.5611,A/0.4389;NP=55;Gene=MEAF6/NM_001270875.1/0;CC=c.341-129_341-111delCATGTATCTTCTCTGTCAA;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.341-129_341-111delCATGTATCTTCTCTGTCAA;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.341-129_341-111delCATGTATCTTCTCTGTCAA;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTGACAGAGAAGATACATG,A:30:2:0:11:19,11:568,358:0.00,32.49:0.00,3.34:0.00,29.15:0.00,1.00:0.00,0.67:0.00,1.00:60,60:6.6,33.2:0,0:0,0:128,57:23,94:16,7:-,NM_022756.5(MEAF6) c.341-129_341-111delCATGTATCTTCTCTGTCAA:-,0.72:-,NOT_FOUND 1 37967774 rs215864 C A 64 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.2676,A/0.7324;Gene=MEAF6/NM_001270875.1/0;CC=c.341-177G>T;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.341-177G>T;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.341-177G>T;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:554:63.51:0.00:63.51:1.00:0.00:1.00:60:37.5:0:0:93:58:16:NM_022756.5(MEAF6) c.341-177G>T,NM_022756.5(MEAF6) c.341-177G>T:0.78,0.78:NOT_FOUND,NOT_FOUND 1 37974925 . C . . NT END=37975055;NT GT ./. 1 37975144 . C . . NT END=37979023;NT GT ./. 1 37975279 rs215214 C T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.05491,T/0.9451;Gene=MEAF6/NM_001270875.1/0;CC=c.207-136G>A;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.207-136G>A;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.207-136G>A;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:11,9:357,259:0.00,24.22:0.00,0.00:0.00,24.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:46.7,55.2:0,0:0,0:96,98:54,51:27,30:-,NM_022756.5(MEAF6) c.207-136G>A:-,0.96:-,NOT_FOUND 1 37975312 rs2036637 T C 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.2698,C/0.7302;Gene=MEAF6/NM_001270875.1/0;CC=c.207-169A>G;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.207-169A>G;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.207-169A>G;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:353:40.96:0.00:40.96:1.00:0.00:1.00:60:69.2:0:0:113:37:14:NM_022756.5(MEAF6) c.207-169A>G,NM_022756.5(MEAF6) c.207-169A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 37978897 rs61779866 G A 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8161,A/0.1839;PC=0.015;Gene=MEAF6/NM_001270875.1/0;CC=c.206+127C>T;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.206+127C>T;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.206+127C>T;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:15:15:0:0:10,5:328,161:33.42,0.00:33.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:32.8,1.8:0,0:0,0:71,113:79,38:26,24:NM_022756.5(MEAF6) c.206+127C>T,-:0.22,-:NOT_FOUND,- 1 37979140 . C . . NT END=37980257;NT GT ./. 1 37980080 rs12126401 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9471,T/0.05292;PC=0.017;Gene=MEAF6/NM_001270875.1/0;CC=c.90+178G>A;VC=Intron;Gene=MEAF6/NM_001270876.1/0;CC=c.90+178G>A;VC=Intron;Gene=MEAF6/NM_022756.5/1;CC=c.90+178G>A;VC=Intron;Gene=MEAF6/NR_073090.1/0;VC=NonCoding;Gene=MEAF6/NR_073091.1/0;VC=NonCoding;Gene=MEAF6/NR_073092.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:15:15:0:0:9,6:274,164:0.00,14.87:0.00,14.87:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.9,73.2:0,0:0,0:32,41:119,106:13,34:-,NM_022756.5(MEAF6) c.90+178G>A:-,0.06:-,NOT_FOUND 1 37980348 . G . . NT END=38003348;NT GT ./. 1 37980476 rs12725423 T C 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9471,A/.,C/0.05292 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:0:0:0:14,12:460,334:44.93,0.00:0.00,0.00:44.93,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.6,16.4:0,0:0,0:91,123:59,27:35,18:NM_022756.5(MEAF6) c.-73-u56A>G,-:0.05,-:NOT_FOUND,- 1 38003614 . C . . NT END=38005757;NT GT ./. 1 38006357 . C . . NT END=38018245;NT GT ./. 1 38006359 rs2174769 A G 526 nt VT=SNV;PN=T;NN=A;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.278,G/0.722;PC=0.848;Gene=SNIP1/NM_024700.3/1;CC=c.328-3T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:136:46:0:0:136:4613:526.10:115.98:410.12:1.00:1.00:1.00:60:40.3:0:0:98:48:24:NM_024700.3(SNIP1) c.328-3T>C,NM_024700.3(SNIP1) c.328-3T>C:0.78,0.78:0.72382,0.72382 1 38018134 rs12144401 C T 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.9453,T/0.05471;PC=0.001;Gene=SNIP1/NM_024700.3/1;CC=c.327+112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:26:0:0:12,14:426,408:0.00,39.65:0.00,39.65:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.0,32.1:0,0:0,0:38,30:112,121:32,20:-,NM_024700.3(SNIP1) c.327+112G>A:-,0.04:-,NOT_FOUND 1 38018349 . C . . NT END=38019606;NT GT ./. 1 38019831 . T . . NT END=38022529;NT GT ./. 1 38022677 . G . . NT END=38023203;NT GT ./. 1 38023055 rs76053945 G C 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.9453,C/0.05471;PC=0.395;Gene=DNALI1/NM_003462.3/1;CC=c.148-149G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:31:29:0:0:15,16:500,511:47.84,0.00:48.41,0.00:-0.57,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:49.2,13.1:0,0:0,0:36,35:114,115:34,27:NM_003462.3(DNALI1) c.148-149G>C,-:0.04,-:NOT_FOUND,- 1 38023316 rs11749 C T 154 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.7957,G/.,T/0.2043;PC=1.000;Gene=DNALI1/NM_003462.3/1;CC=c.260C>T;ProtCh=p.A87V;VC=Missense;DM=DNALI1/Ax_dynein_light GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:121:72:0:0:1,66,1,53:11,2216,13,1638:-0.13,0.00,-0.07,153.57:-0.10,0.00,-0.10,57.37:-0.02,0.00,0.03,96.20:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:62.0,4.6,149.0,35.3:0,0,0,0:0,0,0,0:57,79,25,77:94,70,119,60:0,31,0,41:-,NM_003462.3(DNALI1) c.260C>T (p.Ala87Val):-,0.24:-,0.202829 1 38023350 . G . . NT END=38024927;NT GT ./. 1 38025098 . G . . NT END=38027157;NT GT ./. 1 38027337 . G . . NT END=38027681;NT GT ./. 1 38027847 . G . . NT END=38030626;NT GT ./. 1 38030663 . T . . NT END=38032455;NT GT ./. 1 38032609 . C . . NT END=38033273;NT GT ./. 1 38033366 . C . . NT END=38033875;NT GT ./. 1 38033959 . C . . NT END=38034451;NT GT ./. 1 38034904 . C . . NT END=38039943;NT GT ./. 1 38040058 . C . . NT END=38040265;NT GT ./. 1 38040425 . C . . NT END=38041195;NT GT ./. 1 38041301 . C . . NT END=38042028;NT GT ./. 1 38041482 rs12755479 G A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9884,A/0.01158;PC=0.022;Gene=GNL2/NM_013285.2/1;CC=c.1039-182C>T;VC=Intron;DM=GNL2/MMR_HSR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:6:0:0:0:5,1:165,35:17.71,0.00:0.00,0.00:17.71,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:36.8,0.0:0,0:0,0:139,93:12,58:4,0:NM_013285.2(GNL2) c.1039-182C>T,-:0.02,-:NOT_FOUND,- 1 38041701 rs4652960 T G 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.269,G/0.731;Gene=GNL2/NM_013285.2/1;CC=c.1038+328A>C;VC=Intron;DM=GNL2/MMR_HSR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:111:12.95:12.95:0.00:1.00:1.00:0.00:60:30.8:0:0:74:76:8:NM_013285.2(GNL2) c.1038+328A>C,NM_013285.2(GNL2) c.1038+328A>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 38042158 . C . . NT END=38047823;NT GT ./. 1 38047938 . C . . NT END=38048378;NT GT ./. 1 38048538 . C . . NT END=38049467;NT GT ./. 1 38049535 . C . . NT END=38052911;NT GT ./. 1 38049552 rs6426024 C G 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.2692,A/.,G/0.7308;PC=0.005;Gene=GNL2/NM_013285.2/1;CC=c.570-18G>C;VC=Intron;DM=GNL2/MMR_HSR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:12:0:0:23:711:81.87:23.53:58.35:1.00:1.00:1.00:60:59.4:0:0:104:44:23:NM_013285.2(GNL2) c.570-18G>C,NM_013285.2(GNL2) c.570-18G>C:0.79,0.79:0.732047,0.732047 1 38049566 rs61776195 G A 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.9457,A/0.05431;Gene=GNL2/NM_013285.2/1;CC=c.570-32C>T;VC=Intron;DM=GNL2/MMR_HSR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:9:0:0:11,8:341,272:33.72,0.00:7.67,0.00:26.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:83.0,41.9:0,0:0,0:111,108:33,42:10,26:NM_013285.2(GNL2) c.570-32C>T,-:0.04,-:0.053668,- 1 38052867 rs397935144 C CA 14 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=321;Gene=GNL2/NM_013285.2/1;CC=c.569+44_569+45insT;VC=Intron;DM=GNL2/MMR_HSR1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,CA,D:33:30:7:6:24,6,3:712,212,122:0.00,14.12,7.10:0.00,12.75,5.91:0.00,1.37,1.19:0.00,0.89,0.00:0.00,0.99,0.00:0.00,0.76,0.00:60,70,60:21.5,9.5,9.3:0,1,1:0,0,0:59,54,75:91,92,76:40,17,31:-,NM_013285.2(GNL2) c.569+44_569+45insT:-,NOT_FOUND:-,NOT_FOUND 1 38052895 rs367923987 CA C 11 idl,rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=24;PC=0.003;Gene=GNL2/NM_013285.2/1;CC=c.569+16delT;VC=Intron;DM=GNL2/MMR_HSR1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,CA,G,I,C:55:45:3:6:1,45,1,3,5:10,1505,15,68,188:-0.19,0.00,0.07,3.47,10.72:-0.09,0.00,-0.26,3.25,9.81:-0.10,0.00,0.32,0.22,0.91:0.00,0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.00,0.57:0.00,0.00,0.00,0.00,0.75:60,70,60,60,60:115.0,9.4,140.0,91.3,26.2:0,0,0,0,1:0,0,0,0,0:30,45,9,50,36:93,94,126,78,104:0,33,0,25,13:-,NM_013285.2(GNL2) c.569+16delT:-,NOT_FOUND:-,NOT_FOUND 1 38053097 . C . . NT END=38056306;NT GT ./. 1 38056447 . C . . NT END=38058312;NT GT ./. 1 38056595 rs3737749 A G 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.9455,G/0.05451;Gene=GNL2/NM_013285.2/1;CC=c.245-149T>C;VC=Intron;DM=GNL2/NGP1NT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:8,9:265,253:0.00,24.47:0.00,0.00:0.00,24.47:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.9,32.9:0,0:0,0:68,124:82,27:34,9:-,NM_013285.2(GNL2) c.245-149T>C:-,0.04:-,NOT_FOUND 1 38058408 . C . . NT END=38059362;NT GT ./. 1 38058993 rs4652962 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2646,G/0.7354;PC=0.003;Gene=GNL2/NM_013285.2/1;CC=c.149+370T>C;VC=Intron;DM=GNL2/NGP1NT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:109:13.11:13.11:0.00:1.00:1.00:0.00:60:43.6:0:0:58:93:10:NM_013285.2(GNL2) c.149+370T>C,NM_013285.2(GNL2) c.149+370T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 38059448 . C . . NT END=38061359;NT GT ./. 1 38061424 . C . . NT END=38078426;NT GT ./. 1 38061572 rs6697632 G T 71 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2442,T/0.7558;Gene=GNL2/NM_013285.2/1;CC=c.-149C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:1:0:0:20:611:70.59:0.93:69.66:1.00:1.00:1.00:60:49.0:0:0:103:47:24:NM_013285.2(GNL2) c.-149C>A,NM_013285.2(GNL2) c.-149C>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 38078171 rs199547421 G GGTGT 35 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3848,GGT/0.4052,GGTGT/0.2101;DB;DBA=NA;PAF=G/0.3848,GGT/0.4052,GGTGT/0.2101;NP=4;NP=67;PC=0.001;Gene=RSPO1/NM_001038633.3/1;CC=c.*255_*256insACAC;VC=3UTR;Gene=RSPO1/NM_001242908.1/0;CC=c.*255_*256insACAC;VC=3UTR;Gene=RSPO1/NM_001242909.1/0;CC=c.*255_*256insACAC;VC=3UTR;Gene=RSPO1/NM_001242910.1/0;CC=c.*255_*256insACAC;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GGTGT:14:13:11:0:3,11:84,327:0.00,34.81:0.00,26.77:0.00,8.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.3,18.5:1,0:0,0:121,42:30,78:12,25:-,NM_001038633.3(RSPO1) c.*234AC[13]:-,NOT_FOUND:-,NOT_FOUND 1 38078594 . C . . NT END=38079375;NT GT ./. 1 38078630 rs55852308 A T 291 nt VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.8069,T/0.1931;Gene=RSPO1/NM_001038633.3/1;CC=c.626-37T>A;VC=Intron;Gene=RSPO1/NM_001242908.1/0;CC=c.626-37T>A;VC=Intron;Gene=RSPO1/NM_001242909.1/0;CC=c.545-37T>A;VC=Intron;Gene=RSPO1/NM_001242910.1/0;CC=c.437-37T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:79:28:0:0:79:2530:290.60:65.50:225.10:1.00:1.00:1.00:60:42.6:0:0:95:56:27:NM_001038633.3(RSPO1) c.626-37T>A,NM_001038633.3(RSPO1) c.626-37T>A:0.23,0.23:0.20491,0.20491 1 38079565 . C . . NT END=38079855;NT GT ./. 1 38080006 . C . . NT END=38082155;NT GT ./. 1 38082122 rs12039431 G A 188 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.8075,A/0.1925;Gene=RSPO1/NM_001038633.3/1;CC=c.286+34C>T;VC=Intron;Gene=RSPO1/NM_001242908.1/0;CC=c.286+34C>T;VC=Intron;Gene=RSPO1/NM_001242909.1/0;CC=c.205+34C>T;VC=Intron;Gene=RSPO1/NM_001242910.1/0;CC=c.286+34C>T;VC=Intron;DM=RSPO1/Furin-like_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:111:A,G:52:43:0:0:51,1:1661,35:188.28,0.00:132.86,0.00:55.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.6,34.0:0,0:0,0:50,21:97,130:27,0:NM_001038633.3(RSPO1) c.286+34C>T,NM_001038633.3(RSPO1) c.286+34C>T:0.2,0.2:0.194298,0.194298 1 38082123 rs12046650 C T 191 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.8075,T/0.1925;Gene=RSPO1/NM_001038633.3/1;CC=c.286+33G>A;VC=Intron;Gene=RSPO1/NM_001242908.1/0;CC=c.286+33G>A;VC=Intron;Gene=RSPO1/NM_001242909.1/0;CC=c.205+33G>A;VC=Intron;Gene=RSPO1/NM_001242910.1/0;CC=c.286+33G>A;VC=Intron;DM=RSPO1/Furin-like_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:43:0:0:52:1667:191.46:134.07:57.39:1.00:1.00:1.00:60:68.8:0:0:48:100:25:NM_001038633.3(RSPO1) c.286+33G>A,NM_001038633.3(RSPO1) c.286+33G>A:0.2,0.2:0.190531,0.190531 1 38082348 . C . . NT END=38095239;NT GT ./. 1 38095574 . A . . NT END=38148753;NT GT ./. 1 38115035 rs4233216 C A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.237,A/0.763;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,C:7:7:0:0:4,3:134,103:13.23,0.00:11.41,0.00:1.82,0.00:0.90,0.00:0.90,0.00:0.71,0.00:60,60:58.8,41.3:0,0:0,0:114,89:36,62:0,9:chr1 g.38115034C>A (intergenic),-:0.81,-:NOT_FOUND,- 1 38115044 rs4653313 T C 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:182:21.49:17.51:3.98:1.00:1.00:1.00:60:47.9:0:0:123:27:2:chr1 g.38115043T>C (intergenic),chr1 g.38115043T>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 38148765 rs684260 A G 119 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1715,C/.,G/0.8285,T/.;Gene=C1orf109/NM_001303030.1/0;CC=c.*30T>C;VC=3UTR;Gene=C1orf109/NM_001303031.1/0;CC=c.*30T>C;VC=3UTR;Gene=C1orf109/NM_017850.2/1;CC=c.*30T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A,G:32:26:0:0:1,31:9,1058:0.00,119.02:0.00,73.05:0.00,45.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,41.9:0,0:0,0:133,62:17,86:0,24:NM_017850.1(C1orf109) c.=,NM_017850.1(C1orf109) c.=:0.83,0.83:0.769183,0.769183 1 38148833 . C . . NT END=38148990;NT GT ./. 1 38149076 rs34250208 G A 142 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.9481,A/0.05192;PC=0.946;Gene=C1orf109/NM_001303030.1/0;CC=c.675C>T;ProtCh=p.I225=;VC=Silent;Gene=C1orf109/NM_001303031.1/0;CC=c.678C>T;ProtCh=p.I226=;VC=Silent;Gene=C1orf109/NM_017850.2/1;CC=c.489C>T;ProtCh=p.I163=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:61:0:0:46,46:1481,1454:142.34,0.00:79.25,0.00:63.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,7.7:0,0:0,0:88,81:62,65:34,38:NM_017850.1(C1orf109) c.489C>T (p.(=)),-:0.06,-:0.096186,- 1 38149114 . C . . NT END=38151944;NT GT ./. 1 38149193 rs686083 C T 85 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.7855,T/0.2145;Gene=C1orf109/NM_001303030.1/0;CC=c.642-84G>A;VC=Intron;Gene=C1orf109/NM_001303031.1/0;CC=c.645-84G>A;VC=Intron;Gene=C1orf109/NM_017850.2/1;CC=c.456-84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:16:0:0:24,27:802,879:0.00,85.46:0.00,27.57:0.00,57.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,47.1:0,0:0,0:111,109:40,37:30,23:-,NM_017850.1(C1orf109) c.456-84G>A:-,0.21:-,NOT_FOUND 1 38151705 rs525379 T C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7853,C/0.2147;Gene=C1orf109/NM_001303030.1/0;CC=c.641+240A>G;VC=Intron;Gene=C1orf109/NM_001303031.1/0;CC=c.644+240A>G;VC=Intron;Gene=C1orf109/NM_017850.2/1;CC=c.455+240A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:C,T:5:5:0:0:3,2:104,44:10.39,0.00:10.39,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:43.7,5.0:0,0:0,0:55,101:96,45:38,3:NM_017850.1(C1orf109) c.455+240A>G,-:0.21,-:NOT_FOUND,- 1 38152125 . C . . NT END=38155277;NT GT ./. 1 38155141 rs141474189 G GGT 22 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7855,GGT/0.2145;DB;DBA=NA;PAF=NA;NP=1199;PC=0.012;Gene=C1orf109/NM_001303030.1/0;CC=c.461+136_461+137insAC;VC=Intron;Gene=C1orf109/NM_001303031.1/0;CC=c.464+136_464+137insAC;VC=Intron;Gene=C1orf109/NM_017850.2/1;CC=c.275+136_275+137insAC;VC=Intron;DM=C1orf109/CK2S;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:G,T,GGT:15:15:8:0:6,1,8:150,11,227:0.00,0.33,22.37:0.00,0.33,22.37:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:59.5,23.0,36.9:0,1,0:0,0,0:37,131,30:113,16,120:30,0,11:-,NM_017850.1(C1orf109) c.275+136_275+137insAC:-,NOT_FOUND:-,NOT_FOUND 1 38155265 rs586252 G C 82 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.7855,C/0.2145;Gene=C1orf109/NM_001303030.1/0;CC=c.461+13C>G;VC=Intron;Gene=C1orf109/NM_001303031.1/0;CC=c.464+13C>G;VC=Intron;Gene=C1orf109/NM_017850.2/1;CC=c.275+13C>G;VC=Intron;DM=C1orf109/CK2S GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:48:40:0:0:27,20,1:836,642,15:82.46,0.00,0.28:62.08,0.00,0.32:20.38,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.6,16.2,15.0:0,0,0:0,0,0:48,65,23:103,84,128:21,25,0:NM_017850.1(C1orf109) c.275+13C>G,-:0.21,-:0.312625,- 1 38155559 . C . . NT END=38155673;NT GT ./. 1 38155699 rs4653319 T G 109 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.6284,G/0.3716;Gene=C1orf109/NM_001303030.1/0;CC=c.184-144A>C;VC=Intron;Gene=C1orf109/NM_001303031.1/0;CC=c.184-141A>C;VC=Intron;Gene=C1orf109/NM_017850.2/1;CC=c.-3-144A>C;VC=Intron;DM=C1orf109/CK2S GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:76:34:0:0:35,41:1153,1256:109.22,0.00:26.16,0.00:83.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,43.5:0,0:0,0:87,90:59,60:37,40:NM_017850.1(C1orf109) c.-3-144A>C,-:0.36,-:NOT_FOUND,- 1 38155709 . g . . NT END=38155935;NT GT ./. 1 38155723 rs681649 C A 100 nt VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.8373,A/0.1627;PC=0.001;Gene=C1orf109/NM_001303030.1/0;CC=c.183+165G>T;VC=Intron;Gene=C1orf109/NM_001303031.1/0;CC=c.183+165G>T;VC=Intron;Gene=C1orf109/NM_017850.2/1;CC=c.-3-168G>T;VC=Intron;DM=C1orf109/CK2S GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:59:17:0:0:33,26:1016,884:99.65,0.00:26.96,0.00:72.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.4,44.0:0,0:0,0:79,78:71,71:36,26:NM_017850.1(C1orf109) c.-3-168G>T,-:0.17,-:NOT_FOUND,- 1 38155841 rs681191 A T 158 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.4599,T/0.5401;PC=0.001;Gene=C1orf109/NM_001303030.1/0;CC=c.183+47T>A;VC=Intron;Gene=C1orf109/NM_001303031.1/0;CC=c.183+47T>A;VC=Intron;Gene=C1orf109/NM_017850.2/1;CC=c.-4+165T>A;VC=Intron;DM=C1orf109/CK2S GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T:44:22:0:0:44:1375:158.28:84.39:73.89:1.00:1.00:1.00:60:49.8:0:0:75:74:43:NM_017850.1(C1orf109) c.-4+165T>A,NM_017850.1(C1orf109) c.-4+165T>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 38156071 . A . . NT END=38158362;NT GT ./. 1 38156190 rs679742 C G 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.8367,G/0.1633;Gene=C1orf109/NM_001303030.1/0;CC=c.-120G>C;VC=5UTR;Gene=C1orf109/NM_001303031.1/0;CC=c.-120G>C;VC=5UTR;Gene=C1orf109/NM_017850.2/1;CC=c.-188G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:60:23:0:0:31,29:1018,972:0.00,93.00:0.00,35.39:0.00,57.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,45.6:0,0:0,0:89,99:62,47:37,28:-,NM_017850.1(C1orf109) c.-188G>C:-,0.17:-,NOT_FOUND 1 38156343 rs2306626 G A 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.636,A/0.364;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G:14:0:0:0:6,8:166,260:15.27,0.00:0.00,0.00:15.27,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:43.5,44.5:0,0:0,0:93,102:58,47:37,27:NM_001256875.1(CDCA8) c.-290-u1730G>A,-:0.36,-:NOT_FOUND,- 1 38156427 rs678511 T C 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8247,C/0.1753;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:6:0:0:0:4,2:114,67:11.63,0.00:0.00,0.00:11.63,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:56.2,34.0:0,0:0,0:99,114:51,36:32,12:NM_001256875.1(CDCA8) c.-290-u1646T>C,-:0.18,-:NOT_FOUND,- 1 38158211 rs2306625 C T 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6362,T/0.3638;Gene=CDCA8/NM_001256875.1/0;CC=c.-152C>T;VC=5UTR;Gene=CDCA8/NM_018101.3/1;CC=c.-55C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:13:0:0:6,7:205,216:0.00,21.04:0.00,21.04:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:32.3,35.7:0,0:0,0:24,23:127,128:18,15:-,NM_001256875.1(CDCA8) c.-152C>T:-,0.36:-,NOT_FOUND 1 38158258 rs11558851 C T 50 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9107,T/0.08926;Gene=CDCA8/NM_001256875.1/0;CC=c.-105C>T;VC=5UTR;Gene=CDCA8/NM_018101.3/1;CC=c.-16+8C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:31:0:0:14,17:466,512:0.00,50.02:0.00,46.45:0.00,3.57:0.00,1.00:0.00,1.00:0.00,0.83:60,60:25.5,33.8:0,0:0,0:45,39:106,112:24,22:-,NM_001256875.1(CDCA8) c.-105C>T:-,0.09:-,NOT_FOUND 1 38158457 . G . . NT END=38158576;NT GT ./. 1 38158706 . G . . NT END=38161581;NT GT ./. 1 38161623 . G . . NT END=38164576;NT GT ./. 1 38161694 rs615530 A G 103 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.4175,G/0.5825;Gene=CDCA8/NM_001256875.1/0;CC=c.264+72A>G;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.264+72A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:10:0:0:27:898:102.68:24.05:78.63:1.00:1.00:1.00:60:39.7:0:0:115:33:25:NM_001256875.1(CDCA8) c.264+72A>G,NM_001256875.1(CDCA8) c.264+72A>G:0.58,0.58:0.517959,0.517959 1 38164438 rs3842536 GC G 19 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GC/0.6344,G/0.3656;NP=261;Gene=CDCA8/NM_001256875.1/0;CC=c.265-138delC;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.265-138delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:GC,G:9:9:0:6:3,6:98,191:0.00,19.47:0.00,19.47:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,2.0:0,0:0,0:55,47:96,103:48,28:-,NM_001256875.1(CDCA8) c.265-138delC:-,0.36:-,NOT_FOUND 1 38164650 . G . . NT END=38166107;NT GT ./. 1 38164724 rs557290 C G 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4617,G/0.5383;PC=0.003;Gene=CDCA8/NM_001256875.1/0;CC=c.337+75C>G;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.337+75C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:2:0:0:20:614:70.90:5.47:65.43:1.00:1.00:1.00:60:35.1:0:0:83:66:13:NM_001256875.1(CDCA8) c.337+75C>G,NM_001256875.1(CDCA8) c.337+75C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 38166022 rs513826 T C 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4617,C/0.5383;Gene=CDCA8/NM_001256875.1/0;CC=c.338-86T>C;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.338-86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:18:0:0:19:615:70.55:63.80:6.75:1.00:1.00:1.00:60:37.8:0:0:53:97:31:NM_001256875.1(CDCA8) c.338-86T>C,NM_001256875.1(CDCA8) c.338-86T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 38166194 . G . . NT END=38167425;NT GT ./. 1 38166327 rs661460 A T 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4617,T/0.5383;Gene=CDCA8/NM_001256875.1/0;CC=c.423+134A>T;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.423+134A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:326:37.37:0.00:37.37:1.00:0.00:1.00:60:40.6:0:0:93:57:47:NM_001256875.1(CDCA8) c.423+134A>T,NM_001256875.1(CDCA8) c.423+134A>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 38167345 rs71701232 T TA 15 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6881,TA/0.3069,TAAA/0.004992,TC/.;NP=16;Gene=CDCA8/NM_001256875.1/0;CC=c.424-65dupA;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.424-65dupA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:T,TA,D:13:14:6:1:7,5,1:223,193,29:0.00,14.81,2.01:0.00,13.33,2.04:0.00,1.47,-0.03:0.00,0.90,0.00:0.00,0.90,0.00:0.00,0.76,0.00:60,60,60:17.6,25.6,120.0:0,1,0:0,0,0:26,71,6:124,79,142:6,23,0:-,NM_001256875.1(CDCA8) c.424-81_424-80insA:-,NOT_FOUND:-,NOT_FOUND 1 38167361 rs67680207 A C 18 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.8397,AC/0.1603;DB;DBA=NA;PAF=A/0.8397,AC/0.1603;DB;DBA=NA;PAF=A/0.8397,AC/0.1603;NP=11;NP=2;NP=258;Gene=CDCA8/NM_001256875.1/0;CC=c.424-65A>C;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.424-65A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,C,I:17:17:4:0:8,6,3:252,190,128:0.00,17.59,7.97:0.00,14.86,5.08:0.00,2.74,2.88:0.00,0.94,0.00:0.00,1.00,0.00:0.00,0.89,0.00:60,60,60:20.0,51.3,12.7:0,0,1:0,0,0:67,9,46:82,141,104:35,7,15:-,NM_001256875.1(CDCA8) c.424-65A>C:-,NOT_FOUND:-,NOT_FOUND 1 38167491 . G . . NT END=38168923;NT GT ./. 1 38168804 rs12119598 C T 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9475,T/0.05252;Gene=CDCA8/NM_001256875.1/0;CC=c.489-120C>T;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.489-120C>T;VC=Intron;DM=CDCA8/Borealin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:11:11:0:0:3,8:100,228:0.00,23.78:0.00,23.78:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.7,57.8:0,0:0,0:22,30:129,112:12,25:-,NM_001256875.1(CDCA8) c.489-120C>T:-,0.06:-,NOT_FOUND 1 38169020 . G . . NT END=38171112;NT GT ./. 1 38171240 . G . . NT END=38172649;NT GT ./. 1 38171370 rs776050 G A 163 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.4613,A/0.5387;Gene=CDCA8/NM_001256875.1/0;CC=c.711+131G>A;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.711+131G>A;VC=Intron;DM=CDCA8/Borealin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A,G:44:6:0:0:43,1:1450,22:163.44,0.00:15.42,0.00:148.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:48.4,92.0:0,0:0,0:92,1:58,150:25,0:NM_001256875.1(CDCA8) c.711+131G>A,NM_001256875.1(CDCA8) c.711+131G>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 38171450 rs138530458 CTGTTTTTT C 33 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CTGTTTTTT/0.7362,C/0.2638;NP=31;PC=0.003;Gene=CDCA8/NM_001256875.1/0;CC=c.711+212_711+219delTGTTTTTT;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.711+212_711+219delTGTTTTTT;VC=Intron;DM=CDCA8/Borealin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:CTGTTTTTT,C:16:0:0:11:5,11:127,319:0.00,32.86:0.00,0.00:0.00,32.86:0.00,1.00:0.00,0.00:0.00,1.00:60,70:66.6,36.5:0,0:0,0:136,128:15,23:11,12:-,NM_001256875.1(CDCA8) c.711+212_711+219delTGTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 38172737 . G . . NT END=38173993;NT GT ./. 1 38173983 rs368589115 TTTC T 46 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=TTTC/0.6358,T/0.3642;DB;DBA=NA;PAF=TTTC/0.6358,T/0.3642;NP=1312;Gene=CDCA8/NM_001256875.1/0;CC=c.799-8_799-6delCTT;VC=Intron;Gene=CDCA8/NM_018101.3/1;CC=c.799-8_799-6delCTT;VC=Intron;DM=CDCA8/Borealin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTC,T:47:33:0:16:31,16:1028,517:0.00,46.24:0.00,20.39:0.00,25.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,2.9:0,0:0,0:76,59:74,84:32,22:-,NM_001256875.1(CDCA8) c.799-10_799-8delTTC:-,0.36:-,NOT_FOUND 1 38174039 . G . . NT END=38184043;NT GT ./. 1 38174185 rs557897 G T 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4251,A/.,C/.,T/0.5749;PC=0.001;Gene=CDCA8/NM_001256875.1/0;CC=c.*147G>T;VC=3UTR;Gene=CDCA8/NM_018101.3/1;CC=c.*147G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:303:35.07:0.00:35.07:1.00:0.00:1.00:60:57.3:0:0:104:47:29:NM_001256875.1(CDCA8) c.*147G>T,NM_001256875.1(CDCA8) c.*147G>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 38184159 . C . . NT END=38184332;NT GT ./. 1 38184316 rs609437 T C 214 nt VT=SNV;PN=T;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.8309,C/0.1691;Gene=EPHA10/NM_001099439.1/1;CC=c.2912+17A>G;VC=Intron;DM=EPHA10/SAM_1;DM=EPHA10/SAM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:133:98:0:0:68,65:2219,1996:214.28,0.00:120.31,0.00:93.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,15.0:0,0:0,0:70,56:75,91:28,34:NM_001099439.1(EPHA10) c.2912+17A>G,-:0.17,-:0.253289,- 1 38184470 rs610213 C G 219 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=C/0.888,G/0.112,T/.;PC=0.002;Gene=EPHA10/NM_001099439.1/1;CC=c.2775G>C;ProtCh=p.A925=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:153:95:0:0:78,75:2357,2297:0.00,219.36:0.00,90.42:0.00,128.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,34.2:0,0:0,0:94,86:52,55:29,30:-,NM_001099439.1(EPHA10) c.2775G>C (p.(=)):-,0.11:-,0.167069 1 38184489 . C . . NT END=38185085;NT GT ./. 1 38184881 rs7533921 A C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7314,C/0.2686;Gene=EPHA10/NM_001099439.1/1;CC=c.2756+205T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:17:14:0:0:8,9:227,289:0.00,28.11:0.00,22.53:0.00,5.57:0.00,1.00:0.00,1.00:0.00,0.90:60,60:15.5,54.3:0,0:0,0:68,54:82,96:44,32:-,NM_001099439.1(EPHA10) c.2756+205T>G:-,0.27:-,NOT_FOUND 1 38185280 . C . . NT END=38185580;NT GT ./. 1 38185337 rs518583 T C 128 nt VT=SNV;PN=G;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.8866,C/0.1134;Gene=EPHA10/NM_001099439.1/1;CC=c.2563-58A>G;VC=Intron;DM=EPHA10/Pkinase_Tyr;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:81:29:0:0:1,44,1,35:10,1309,8,1085:-0.07,128.03,-0.11,0.00:0.08,42.86,-0.04,0.00:-0.14,85.17,-0.07,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:72.0,40.1,26.0,15.5:0,0,0,0:0,0,0,0:109,111,26,102:41,35,125,37:0,19,0,37:NM_001099439.1(EPHA10) c.2563-58A>G,-:0.11,-:NOT_FOUND,- 1 38185731 . C . . NT END=38186022;NT GT ./. 1 38185814 rs12124242 G A 112 nt VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.9067,A/0.09325;Gene=EPHA10/NM_001099439.1/1;CC=c.2413-84C>T;VC=Intron;DM=EPHA10/Pkinase_Tyr;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:29:0:0:36,33:1153,1093:111.74,0.00:30.76,0.00:80.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.2,14.0:0,0:0,0:97,103:52,44:33,27:NM_001099439.1(EPHA10) c.2413-84C>T,-:0.09,-:NOT_FOUND,- 1 38185815 rs12131931 C A 110 nt VT=SNV;PN=G;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.9067,A/0.09325;Gene=EPHA10/NM_001099439.1/1;CC=c.2413-85G>T;VC=Intron;DM=EPHA10/Pkinase_Tyr;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:68:29:0:0:36,32:1135,1056:110.26,0.00:29.47,0.00:80.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.9,14.5:0,0:0,0:101,101:49,43:35,22:NM_001099439.1(EPHA10) c.2413-85G>T,-:0.09,-:NOT_FOUND,- 1 38186189 rs6671088 C T 228 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.888,T/0.112;PC=0.964;Gene=EPHA10/NM_001099439.1/1;CC=c.2246G>A;ProtCh=p.G749E;VC=Missense;DM=EPHA10/Pkinase_Tyr;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:148:91:0:0:75,73:2317,2376:0.00,227.80:0.00,110.94:0.00,116.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,48.9:0,0:0,0:91,64:57,77:30,33:-,NM_001099439.1(EPHA10) c.2246G>A (p.Gly749Glu):-,0.11:-,0.166879 1 38186227 . C . . NT END=38186454;NT GT ./. 1 38186294 rs1008879 C T 145 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.8874,T/0.1126;Gene=EPHA10/NM_001099439.1/1;CC=c.2209-68G>A;VC=Intron;DM=EPHA10/Pkinase_Tyr;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:78:31:0:0:31,2,45:932,36,1461:0.00,1.33,145.24:0.00,-0.09,51.82:0.00,1.41,93.43:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.5,79.0,51.7:0,0,0:0,0,0:88,42,104:55,98,47:44,42,24:-,NM_001099439.1(EPHA10) c.2209-68G>A:-,0.11:-,NOT_FOUND 1 38186517 . C . . NT END=38187331;NT GT ./. 1 38187447 rs579908 A G 217 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=A/0.8113,G/0.1887;PC=1.000;Gene=EPHA10/NM_001099439.1/1;CC=c.2031T>C;ProtCh=p.H677=;VC=Silent;DM=EPHA10/Pkinase_Tyr;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:142:108:0:0:74,68:2310,2274:0.00,217.15:0.00,112.37:0.00,104.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,39.8:0,0:0,0:74,89:74,60:26,26:-,NM_001099439.1(EPHA10) c.2031T>C (p.(=)):-,0.19:-,0.272421 1 38187518 . C . . NT END=38188712;NT GT ./. 1 38188839 . C . . NT END=38188982;NT GT ./. 1 38188841 rs12121777 G A 185 nt VT=SNV;PN=T;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.876,A/0.124,C/.;PC=0.979;Gene=EPHA10/NM_001099439.1/1;CC=c.1835-3C>T;VC=Intron;DM=EPHA10/EphA2_TM;DM=EPHA10/EphA2_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:125:79:0:0:60,65:1942,2084:185.16,0.00:70.73,0.00:114.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,10.1:0,0:0,0:91,89:59,59:36,37:NM_001099439.1(EPHA10) c.1835-3C>T,-:0.13,-:0.201846,- 1 38189045 . C . . NT END=38192773;NT GT ./. 1 38189142 rs1010805 A C 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.8546,C/0.1454;Gene=EPHA10/NM_001099439.1/1;CC=c.1773-98T>G;VC=Intron;DM=EPHA10/EphA2_TM;DM=EPHA10/EphA2_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:52:11:0:0:27,24,1:793,749,12:0.00,71.08,0.04:0.00,11.47,-0.02:0.00,59.61,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.5,50.0,96.0:0,0,0:0,0,0:104,104,98:47,47,53:26,24,0:-,NM_001099439.1(EPHA10) c.1773-98T>G:-,0.14:-,NOT_FOUND 1 38192604 rs6699887 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8944,A/0.1056;PC=0.003;Gene=EPHA10/NM_001099439.1/1;CC=c.1772+170C>T;VC=Intron;DM=EPHA10/EphA2_TM;DM=EPHA10/EphA2_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,G:11:11:0:0:4,7:113,222:10.08,0.00:10.18,0.00:-0.10,0.00:0.82,0.00:0.82,0.00:0.58,0.00:60,60:56.0,4.9:0,0:0,0:71,63:78,84:25,15:NM_001099439.1(EPHA10) c.1772+170C>T,-:0.11,-:NOT_FOUND,- 1 38192883 . C . . NT END=38197082;NT GT ./. 1 38197255 . C . . NT END=38200928;NT GT ./. 1 38197401 rs12074120 T G 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.7961,G/0.2039;Gene=EPHA10/NM_001099439.1/1;CC=c.1492-147A>C;VC=Intron;DM=EPHA10/fn3;DM=EPHA10/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:32:0:0:0:15,17:466,544:44.13,0.00:0.00,0.00:44.13,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:56.3,4.1:0,0:0,0:91,81:60,69:22,38:NM_001099439.1(EPHA10) c.1492-147A>C,-:0.21,-:NOT_FOUND,- 1 38201063 . C . . NT END=38218547;NT GT ./. 1 38201346 rs631457 A T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6619,T/0.3381;Gene=EPHA10/NM_001099439.1/1;CC=c.1358-284T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,T:7:0:0:0:2,5:42,115:0.00,12.06:0.00,0.00:0.00,12.06:0.00,0.98:0.00,0.00:0.00,0.98:60,60:15.0,128.6:0,0:0,0:78,69:71,81:21,37:-,NM_001099439.1(EPHA10) c.1358-284T>A:-,0.36:-,NOT_FOUND 1 38201353 rs631453 A G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6563,G/0.3437;Gene=EPHA10/NM_001099439.1/1;CC=c.1358-291T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:7:0:0:0:2,5:69,133:0.00,13.86:0.00,0.00:0.00,13.86:0.00,0.98:0.00,0.00:0.00,0.98:60,60:15.0,128.6:0,0:0,0:85,76:64,74:21,37:-,NM_001099439.1(EPHA10) c.1358-291T>C:-,0.36:-,NOT_FOUND 1 38201371 rs631432 C T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4541,T/0.5459;PC=0.001;Gene=EPHA10/NM_001099439.1/1;CC=c.1358-309G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,T:8:0:0:0:2,6:60,161:0.00,16.97:0.00,0.00:0.00,16.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.0,115.2:0,0:0,0:103,89:46,56:21,38:-,NM_001099439.1(EPHA10) c.1358-309G>A:-,0.54:-,NOT_FOUND 1 38218254 rs579955 A G 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.624,G/0.376;Gene=EPHA10/NM_001099439.1/1;CC=c.1357+294T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:5:0:0:3,2:94,69:0.00,6.39:0.00,6.39:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:20.3,50.5:0,0:0,0:2,31:149,120:1,16:-,NM_001099439.1(EPHA10) c.1357+294T>C:-,0.38:-,NOT_FOUND 1 38218899 . C . . NT END=38219886;NT GT ./. 1 38219761 rs681890 C T 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.6242,T/0.3758;Gene=EPHA10/NM_001099439.1/1;CC=c.1006+126G>A;VC=Intron;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:C,G,T:32:32:0:0:23,1,8:770,10,214:0.00,-0.06,17.53:0.00,-0.06,16.99:0.00,0.00,0.54:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.50:60,60,60:6.6,85.0,31.8:0,0,0:0,0,0:57,12,39:94,110,111:34,0,26:-,NM_001099439.1(EPHA10) c.1006+126G>A:-,0.38:-,NOT_FOUND 1 38220043 . C . . NT END=38225943;NT GT ./. 1 38220109 rs11584465 G T 97 nt VT=SNV;PN=G;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.8397,T/0.1603;Gene=EPHA10/NM_001099439.1/1;CC=c.851-67C>A;VC=Intron;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:63:19:0:0:31,32:1011,1006:0.00,96.89:0.00,15.70:0.00,81.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,36.8:0,0:0,0:118,107:33,30:20,37:-,NM_001099439.1(EPHA10) c.851-67C>A:-,0.18:-,NOT_FOUND 1 38220323 rs397708733 A AG 12 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.06609,AG/0.9339;DB;DBA=NA;PAF=A/0.06609,AG/0.9339;NP=23;PC=0.005;Gene=EPHA10/NM_001099439.1/1;CC=c.851-282_851-281insC;VC=Intron;DM=EPHA10/Pkinase_Tyr;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AG:4:0:4:0:4:102:12.09:0.00:12.09:1.00:0.00:1.00:60:54.5:0:0:35:114:11:NM_001099439.1(EPHA10) c.851-282_851-281insC,NM_001099439.1(EPHA10) c.851-282_851-281insC:0.91,0.91:NOT_FOUND,NOT_FOUND 1 38226159 . a . . NT END=38226808;NT GT ./. 1 38226760 rs375615094 T TAA 31 idl,nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=2;NP=3;PC=0.013;Gene=EPHA10/NM_001099439.1/1;CC=c.850+316_850+317insTT;VC=Intron;Gene=EPHA10/NM_173641.2/0;CC=c.*278_*279insTT;VC=3UTR;DM=EPHA10/Pkinase_Tyr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,TAA,D:31:33:15:2:1,1,16,11,2:33,14,510,469,62:2.04,0.28,0.00,31.00,4.26:2.08,0.32,0.00,22.11,4.34:-0.04,-0.04,0.00,8.88,-0.08:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.96,0.00:60,60,60,60,60:66.0,47.0,39.1,74.9,6.5:1,0,1,4,0:0,0,0,0,0:33,128,47,39,86:118,22,103,111,64:0,0,41,23,26:-,NM_001099439.1(EPHA10) c.850+316_850+317insTT:-,NOT_FOUND:-,NOT_FOUND 1 38226761 rs2014698 T A 111 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=57;Gene=EPHA10/NM_001099439.1/1;CC=c.850+316A>T;VC=Intron;Gene=EPHA10/NM_173641.2/0;CC=c.*278A>T;VC=3UTR;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A,T:32:31:0:2:31,1:985,33:111.32,0.00:94.83,0.00:16.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.2,0.0:17,1:0,0:36,134:112,17:23,0:NM_001099439.1(EPHA10) c.850+316A>T,NM_001099439.1(EPHA10) c.850+316A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 38226964 rs55695553 C T 199 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=162;DB;DBA=NA;PAF=C/0.8149,T/0.1851;Gene=EPHA10/NM_001099439.1/1;CC=c.850+113G>A;VC=Intron;Gene=EPHA10/NM_173641.2/0;CC=c.*75G>A;VC=3UTR;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:162:127:0:0:89,73:2939,2126:0.00,198.90:0.00,117.05:0.00,81.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.6,48.5:0,0:0,0:68,47:76,98:30,27:-,NM_001099439.1(EPHA10) c.850+113G>A:-,0.16:-,NOT_FOUND 1 38227086 rs4653328 A T 303 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=A/0.6468,T/0.3532;PC=0.003;Gene=EPHA10/NM_001099439.1/1;CC=c.841T>A;ProtCh=p.F281I;VC=Missense;Gene=EPHA10/NM_173641.2/0;CC=c.841T>A;ProtCh=p.F281I;VC=Missense;DM=EPHA10/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:200:138:0:0:101,1,98:3230,11,3161:0.00,-0.15,302.91:0.00,-0.05,144.47:0.00,-0.10,158.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.9,108.0,45.4:0,0,0:0,0,0:77,76,69:73,65,79:32,0,39:-,NM_001099439.1(EPHA10) c.841T>A (p.Phe281Ile):-,0.36:-,0.313931 1 38227756 . C . . NT END=38228456;NT GT ./. 1 38228016 rs606267 T C 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1098,C/0.8902;Gene=EPHA10/NM_001099439.1/1;CC=c.172-261A>G;VC=Intron;Gene=EPHA10/NM_173641.2/0;CC=c.172-261A>G;VC=Intron;DM=EPHA10/Ephrin_lbd;DM=EPHA10/Ephrin_lbd;DM=EPHA10/EphA2_TM;DM=EPHA10/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:157:18.50:0.00:18.50:1.00:0.00:1.00:60:51.0:0:0:111:39:14:NM_001099439.1(EPHA10) c.172-261A>G,NM_001099439.1(EPHA10) c.172-261A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 38228216 rs605359 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1084,G/0.8916;Gene=EPHA10/NM_001099439.1/1;CC=c.171+241T>C;VC=Intron;Gene=EPHA10/NM_173641.2/0;CC=c.171+241T>C;VC=Intron;DM=EPHA10/Ephrin_lbd;DM=EPHA10/Ephrin_lbd;DM=EPHA10/EphA2_TM;DM=EPHA10/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:112:13.09:13.09:0.00:1.00:1.00:0.00:60:92.2:0:0:88:55:11:NM_001099439.1(EPHA10) c.171+241T>C,NM_001099439.1(EPHA10) c.171+241T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 38228522 . C . . NT END=38230632;NT GT ./. 1 38230739 . G . . NT END=38259854;NT GT ./. 1 38230983 rs547071 T C 18 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.08307,C/0.9169;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:155:17.88:1.84:16.05:1.00:1.00:1.00:60:33.6:0:0:141:8:6:NM_001099439.1(EPHA10) c.-86-u159A>G,NM_001099439.1(EPHA10) c.-86-u159A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 38247095 rs12116786 A G 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.8081,G/0.1919;PC=0.876 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:28:26:0:0:14,13,1:455,431,11:0.00,41.15,0.12:0.00,30.39,-0.21:0.00,10.76,0.33:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:8.6,40.1,155.0:0,0,0:0,0,0:37,35,28:113,116,122:17,30,0:-,chr1 g.38247094A>G (intergenic):-,0.23:-,NOT_FOUND 1 38247558 rs397860344 GT G 65 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=GT/0.1865,G/0.8135;DB;DBA=NA;PAF=GT/0.1865,G/0.8135;NP=76;PC=0.840;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:GT,G:20:19:0:18:2,18:64,588:0.00,64.56:0.00,58.92:0.00,5.65:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,7.2:0,0:0,0:146,57:4,94:2,26:-,chr1 g.38247559delT (intergenic):-,0.82:-,NOT_FOUND 1 38247673 rs12118489 T G 51 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.8089,G/0.1911;PC=0.135 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:28:0:0:17,19:537,606:50.98,0.00:22.97,0.00:28.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.0,4.4:0,0:0,0:47,59:103,77:34,29:chr1 g.38247672T>G (intergenic),-:0.23,-:NOT_FOUND,- 1 38247738 rs4308943 A G 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.5785,G/0.4215;PC=0.102 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:41:23:0:0:23,17,1:759,549,10:0.00,51.16,-0.03:0.00,21.57,-0.10:0.00,29.59,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:1.4,60.2,175.0:0,0,0:0,0,0:94,78,63:57,73,72:32,24,0:-,chr1 g.38247737A>G (intergenic):-,0.47:-,NOT_FOUND 1 38260405 . G . . NT END=38261159;NT GT ./. 1 38260503 rs2306627 C T 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7624,T/0.2376;Gene=MANEAL/NM_001031740.2/1;CC=c.550+99C>T;VC=Intron;Gene=MANEAL/NM_001113482.1/0;CC=c.550+99C>T;VC=Intron;DM=MANEAL/Glyco_hydro_99;DM=MANEAL/Glyco_hydro_99 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:7,11:227,360:0.00,36.02:0.00,0.00:0.00,36.02:0.00,1.00:0.00,0.00:0.00,1.00:60,60:22.0,42.3:0,0:0,0:115,84:35,67:18,31:-,NM_001113482.1(MANEAL) c.550+99C>T:-,0.25:-,NOT_FOUND 1 38261519 . G . . NT END=38262415;NT GT ./. 1 38262493 . G . . NT END=38265238;NT GT ./. 1 38265876 . G . . NT END=38269596;NT GT ./. 1 38269670 . C . . NT END=38269973;NT GT ./. 1 38270117 . C . . NT END=38272528;NT GT ./. 1 38272307 rs28701975 G C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5713,C/0.4287;Gene=YRDC/NM_024640.3/1;CC=c.624+222C>G;VC=Intron;DM=YRDC/Sua5_yciO_yrdC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:15:15:0:0:9,6:305,198:30.41,0.00:30.41,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.8,3.7:0,0:0,0:82,40:69,111:43,20:NM_024640.3(YRDC) c.624+222C>G,-:0.47,-:NOT_FOUND,- 1 38272649 . C . . NT END=38272772;NT GT ./. 1 38272888 . C . . NT END=38273463;NT GT ./. 1 38273853 . C . . NT END=38274076;NT GT ./. 1 38274112 . G . . NT END=38274202;NT GT ./. 1 38274405 . G . . NT END=38274649;NT GT ./. 1 38274746 . C . . NT END=38280807;NT GT ./. 1 38281239 . C . . NT END=38283090;NT GT ./. 1 38283155 . C . . NT END=38287792;NT GT ./. 1 38288389 . C . . NT END=38289381;NT GT ./. 1 38289274 rs72661844 T A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9766,A/0.02336;PC=0.001;Gene=MTF1/NM_005955.2/1;CC=c.1171+108A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,T:6:6:0:0:3,3:100,94:9.63,0.00:9.63,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:36.7,1.7:0,0:0,0:59,11:90,139:11,11:NM_005955.2(MTF1) c.1171+108A>T,-:0.03,-:NOT_FOUND,- 1 38289485 . C . . NT END=38297916;NT GT ./. 1 38289615 rs143364716 T A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9974,A/0.002596;NP=27;Gene=MTF1/NM_005955.2/1;CC=c.1069-131A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G,T:13:0:0:0:4,1,8:134,12,248:11.98,0.36,0.00:0.00,0.00,0.00:11.98,0.36,0.00:0.79,0.00,0.00:0.00,0.00,0.00:0.79,0.00,0.00:60,60,60:37.0,200.0,19.6:0,0,0:0,0,0:113,15,77:37,135,74:18,0,48:NM_005955.2(MTF1) c.1069-131A>T,-:0.0037,-:NOT_FOUND,- 1 38297995 . C . . NT END=38300750;NT GT ./. 1 38300569 rs115476368 A G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9974,G/0.002596;NP=37;Gene=MTF1/NM_005955.2/1;CC=c.990+182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,G:13:13:0:0:6,7:176,154:0.00,14.78:0.00,14.78:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:34.7,37.0:0,0:0,0:39,56:110,93:22,25:-,NM_005955.2(MTF1) c.990+182T>C:-,0.0037:-,NOT_FOUND 1 38300888 . C . . NT END=38301342;NT GT ./. 1 38301220 rs28378413 G A 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8263,A/0.1737;Gene=MTF1/NM_005955.2/1;CC=c.853+123C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:19:0:0:11,10:361,319:35.05,0.00:28.25,0.00:6.79,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:69.4,9.3:0,0:0,0:59,40:92,110:34,27:NM_005955.2(MTF1) c.853+123C>T,-:0.21,-:NOT_FOUND,- 1 38301250 rs3912368 A G 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.476,G/0.524;PC=0.001;Gene=MTF1/NM_005955.2/1;CC=c.853+93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:25:0:0:13,15:395,467:0.00,45.47:0.00,34.85:0.00,10.62:0.00,1.00:0.00,1.00:0.00,0.91:60,60:6.9,59.1:0,0:0,0:45,71:106,80:21,52:-,NM_005955.2(MTF1) c.853+93T>C:-,0.57:-,NOT_FOUND 1 38301417 . C . . NT END=38304296;NT GT ./. 1 38301476 rs3762359 G A 61 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.4768,A/0.5232;PC=0.981;Gene=MTF1/NM_005955.2/1;CC=c.780-60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:43:17:0:0:22,20,1:629,627,10:60.68,0.00,0.00:25.29,0.00,-0.04:35.39,0.00,0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.5,13.1,170.0:5,3,0:0,0,0:113,104,72:35,43,79:24,27,0:NM_005955.2(MTF1) c.780-60C>T,-:0.57,-:0.601183,- 1 38301478 rs554128002 CT C 11 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=CT/0.9337,C/0.06629;NP=21;PC=0.992;Gene=MTF1/NM_005955.2/1;CC=c.780-63delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:CT,G,I,C:41:17:2:6:33,1,2,5:1036,10,56,184:0.00,-0.14,3.22,11.06:0.00,-0.12,-0.23,3.68:0.00,-0.02,3.46,7.38:0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.80:0.00,0.00,0.00,0.95:60,60,60,60:27.9,170.0,6.5,26.0:0,0,0,1:0,0,0,0:115,74,74,89:36,77,76,58:23,0,40,12:-,NM_005955.2(MTF1) c.780-63delA:-,NOT_FOUND:-,NOT_FOUND 1 38304429 . C . . NT END=38305591;NT GT ./. 1 38304469 rs200734671 C CT 17 idl,rn VT=INS;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=76;PC=0.013;Gene=MTF1/NM_005955.2/1;CC=c.648-42_648-41insA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T,CT,D:98:59:12:7:79,7,9,3:2302,166,342,180:0.00,9.54,16.80,4.17:0.00,-0.33,2.18,0.50:0.00,9.87,14.62,3.67:0.00,0.00,0.95,0.00:0.00,0.00,0.97,0.00:0.00,0.00,0.98,0.00:60,60,60,60:17.5,91.1,48.9,28.7:0,2,3,3:0,0,0,0:122,87,80,69:23,23,70,80:19,20,19,28:-,NM_005955.2(MTF1) c.648-42_648-41insA:-,NOT_FOUND:-,NOT_FOUND 1 38305831 . C . . NT END=38322922;NT GT ./. 1 38323331 . G . . NT END=38327986;NT GT ./. 1 38323553 rs11488567 A T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5651,T/0.4349;PC=0.819;Gene=MTF1/NM_005955.2/1;CC=c.-51-172T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:A,T:8:0:0:0:4,4:133,107:0.00,10.18:0.00,0.00:0.00,10.18:0.00,0.87:0.00,0.00:0.00,0.87:60,60:12.5,80.2:0,0:0,0:138,109:12,30:7,17:-,NM_005955.2(MTF1) c.-51-172T>A:-,0.48:-,NOT_FOUND 1 38327935 rs140670679 CAG C 32 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=CAG/0.8269,C/0.1731;NP=1388;PC=0.508;Gene=INPP5B/NM_001297434.1/0;CC=c.*50_*51delCT;VC=3UTR;Gene=INPP5B/NM_005540.2/1;CC=c.*50_*51delCT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAG,C:27:27:0:11:16,11:505,351:0.00,32.43:0.00,27.91:0.00,4.53:0.00,1.00:0.00,1.00:0.00,0.96:60,70:3.1,34.0:0,0:0,0:41,33:110,117:21,11:-,NM_005540.2(INPP5B) c.*50_*51delCT:-,0.21:-,0.200888 1 38327982 rs3843 G T 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.4744,T/0.5256;Gene=INPP5B/NM_001297434.1/0;CC=c.*5C>A;VC=3UTR;Gene=INPP5B/NM_005540.2/1;CC=c.*5C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:35:0:0:22,18:730,586:0.00,55.24:0.00,40.21:0.00,15.03:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.4,35.5:0,0:0,0:62,56:89,92:33,18:-,NM_005540.2(INPP5B) c.*5C>A:-,0.57:-,0.603702 1 38328103 . C . . NT END=38329983;NT GT ./. 1 38330096 . C . . NT END=38331432;NT GT ./. 1 38331596 . C . . NT END=38332130;NT GT ./. 1 38331799 rs4653332 C G 39 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6767,G/0.3233;PC=0.001;Gene=INPP5B/NM_001297434.1/0;CC=c.1895-239G>C;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.2387-239G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,G,T:17:1:0:0:5,11,1:163,381,10:0.00,39.01,0.27:0.00,3.79,0.00:0.00,35.22,0.27:0.00,1.00,0.00:0.00,0.76,0.00:0.00,1.00,0.00:60,60,60:0.0,37.8,10.0:0,0,0:0,0,0:85,99,79:65,52,72:41,28,0:-,NM_005540.2(INPP5B) c.2387-239G>C:-,0.29:-,NOT_FOUND 1 38332074 rs149926262 TCTCTCACA T 20 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=315;Gene=INPP5B/NM_001297434.1/0;CC=c.1894+49_1894+56delTGTGAGAG;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.2386+49_2386+56delTGTGAGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:TCTCTCACA,T:10:11:0:8:4,6:74,231:0.00,19.54:0.00,12.78:0.00,6.76:0.00,0.98:0.00,0.98:0.00,0.98:60,70:37.8,13.0:1,1:0,0:98,49:35,77:24,31:-,NM_005540.2(INPP5B) c.2386+49_2386+56delTGTGAGAG:-,NOT_FOUND:-,NOT_FOUND 1 38332216 . C . . NT END=38334172;NT GT ./. 1 38333984 rs398049208 C CA 9 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.237;Gene=INPP5B/NM_001297434.1/0;CC=c.1809+188_1809+189insT;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.2301+188_2301+189insT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,CA,D:10:10:3:2:5,3,2:141,96,61:0.00,8.69,5.17:0.00,8.69,5.17:0.00,0.00,0.00:0.00,0.62,0.00:0.00,0.62,0.00:0.00,0.00,0.00:60,60,60:31.6,77.0,69.0:0,0,0:0,0,0:20,37,72:131,114,78:18,5,13:-,NM_005540.2(INPP5B) c.2301+188_2301+189insT:-,NOT_FOUND:-,NOT_FOUND 1 38334287 . C . . NT END=38338601;NT GT ./. 1 38334317 rs2306425 T A 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.7642,A/0.2358;PC=0.003;Gene=INPP5B/NM_001297434.1/0;CC=c.1696-31A>T;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.2188-31A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:11:0:0:16,17:489,533:46.57,0.00:10.73,0.00:35.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,0.5:0,0:0,0:103,108:47,43:31,27:NM_005540.2(INPP5B) c.2188-31A>T,-:0.22,-:0.242998,- 1 38334318 rs2306426 C A 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7642,A/0.2358,G/.,T/.;Gene=INPP5B/NM_001297434.1/0;CC=c.1696-32G>T;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.2188-32G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:11:0:0:16,17:508,563:48.51,0.00:10.73,0.00:37.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,0.5:0,0:0,0:104,114:46,37:31,24:NM_005540.2(INPP5B) c.2188-32G>T,-:0.22,-:0.24443,- 1 38338795 rs11488569 A G 53 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.4764,G/0.5236;PC=0.489;Gene=INPP5B/NM_001297434.1/0;CC=c.1502T>C;ProtCh=p.M501T;VC=Missense;Gene=INPP5B/NM_005540.2/1;CC=c.1994T>C;ProtCh=p.M665T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:27:0:0:43,19:1397,606:0.00,53.08:0.00,11.75:0.00,41.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.6,39.2:0,0:0,0:89,80:60,65:37,36:-,NM_005540.2(INPP5B) c.1994T>C (p.Met665Thr):-,0.57:-,0.602778 1 38338838 . C . . NT END=38339664;NT GT ./. 1 38339828 . C . . NT END=38341277;NT GT ./. 1 38341389 . C . . NT END=38343859;NT GT ./. 1 38341518 rs12752414 G A 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.04453,A/0.9555;Gene=INPP5B/NM_001297434.1/0;CC=c.1186-130C>T;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.1678-130C>T;VC=Intron;DM=INPP5B/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:244:28.20:0.00:28.20:1.00:0.00:1.00:60:38.5:0:0:96:54:42:NM_005540.2(INPP5B) c.1678-130C>T,NM_005540.2(INPP5B) c.1678-130C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 38343996 . C . . NT END=38344001;NT GT ./. 1 38344165 . C . . NT END=38345756;NT GT ./. 1 38345867 . C . . NT END=38348478;NT GT ./. 1 38345896 rs2306427 A C 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.477,C/0.523;PC=0.003;Gene=INPP5B/NM_001297434.1/0;CC=c.940-30T>G;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.1432-30T>G;VC=Intron;DM=INPP5B/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:45:23:0:0:20,25:643,819:0.00,80.38:0.00,23.29:0.00,57.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,44.3:0,0:0,0:110,107:34,39:15,26:-,NM_005540.2(INPP5B) c.1432-30T>G:-,0.57:-,0.601362 1 38348591 . C . . NT END=38348599;NT GT ./. 1 38349540 . C . . NT END=38351309;NT GT ./. 1 38349606 rs9329570 G T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.3325,T/0.6675;Gene=INPP5B/NM_001297434.1/0;CC=c.828-1016C>A;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.1320-1016C>A;VC=Intron;DM=INPP5B/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:39:7:0:0:21,18:713,515:0.00,48.34:0.00,9.20:0.00,39.14:0.00,1.00:0.00,0.98:0.00,1.00:60,60:9.1,28.6:0,0:0,0:109,92:39,58:20,32:-,NM_005540.2(INPP5B) c.1320-1016C>A:-,0.7:-,NOT_FOUND 1 38351498 . C . . NT END=38352559;NT GT ./. 1 38352677 . C . . NT END=38353022;NT GT ./. 1 38352849 rs2279261 G C 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4774,C/0.5226;Gene=INPP5B/NM_001297434.1/0;CC=c.523-173C>G;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.1015-173C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:C,G:12:7:0:0:7,5:219,154:21.70,0.00:11.73,0.00:9.97,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:75.4,4.6:0,0:0,0:117,62:29,85:15,19:NM_005540.2(INPP5B) c.1015-173C>G,-:0.57,-:NOT_FOUND,- 1 38353138 . C . . NT END=38353914;NT GT ./. 1 38354017 . C . . NT END=38355228;NT GT ./. 1 38355103 rs2291161 G T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7722,T/0.2278;PC=0.004;Gene=INPP5B/NM_001297434.1/0;CC=c.305+126C>A;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.797+126C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:G,T:8:8:0:0:3,5:96,149:0.00,14.98:0.00,14.98:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:25.3,43.6:0,0:0,0:23,35:125,116:10,27:-,NM_005540.2(INPP5B) c.797+126C>A:-,0.25:-,NOT_FOUND 1 38355397 . C . . NT END=38357029;NT GT ./. 1 38356870 rs34349547 G C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7654,C/0.2346;Gene=INPP5B/NM_001297434.1/0;CC=c.137+160C>G;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.629+160C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,G:15:15:0:0:5,10:168,344:15.04,0.00:15.04,0.00:0.00,0.00:0.89,0.00:0.89,0.00:0.00,0.00:60,60:50.6,7.1:0,0:0,0:33,60:115,91:10,47:NM_005540.2(INPP5B) c.629+160C>G,-:0.26,-:NOT_FOUND,- 1 38357127 . C . . NT END=38397344;NT GT ./. 1 38397341 rs34655914 G A 355 nt VT=SNV;PN=C;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.645,A/0.355;Gene=INPP5B/NM_001297434.1/0;CC=c.40+4C>T;VC=Intron;Gene=INPP5B/NM_005540.2/1;CC=c.532+244C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:102:78:0:0:101,1:3077,12:355.17,0.16:203.78,0.16:151.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.8,85.0:0,0:0,0:43,104:107,47:20,0:NM_005540.2(INPP5B) c.532+244C>T,NM_005540.2(INPP5B) c.532+244C>T:0.41,0.41:NOT_FOUND,NOT_FOUND 1 38397369 rs35267671 C T 461 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.6448,T/0.3552;PC=0.106;Gene=INPP5B/NM_001297434.1/0;CC=c.16G>A;ProtCh=p.G6S;VC=Missense;Gene=INPP5B/NM_005540.2/1;CC=c.532+216G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:128:91:0:0:2,126:19,4048:0.00,461.30:0.00,243.95:0.00,217.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:83.5,69.2:0,0:0,0:116,58:34,86:15,27:NM_005540.2(INPP5B) c.532+216G>A,NM_005540.2(INPP5B) c.532+216G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 1 38397414 . C . . NT END=38397584;NT GT ./. 1 38397726 . C . . NT END=38406359;NT GT ./. 1 38406471 . C . . NT END=38409311;NT GT ./. 1 38409073 rs28673728 A G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6569,G/0.3431;PC=0.004;Gene=INPP5B/NM_005540.2/1;CC=c.280+239T>C;VC=Intron;DM=INPP5B/INPP5B_PH;DM=INPP5B/INPP5B_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:118:13.70:13.70:0.00:1.00:1.00:0.00:60:63.8:0:0:24:126:11:NM_005540.2(INPP5B) c.280+239T>C,NM_005540.2(INPP5B) c.280+239T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 38409103 rs28380108 G C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7179,C/0.2821;Gene=INPP5B/NM_005540.2/1;CC=c.280+209C>G;VC=Intron;DM=INPP5B/INPP5B_PH;DM=INPP5B/INPP5B_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:178:20.66:20.66:0.00:1.00:1.00:0.00:60:62.2:0:0:43:107:19:NM_005540.2(INPP5B) c.280+209C>G,NM_005540.2(INPP5B) c.280+209C>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 38409342 . C . . NT END=38409467;NT GT ./. 1 38409566 . C . . NT END=38411427;NT GT ./. 1 38411350 rs11485595 C T 122 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.7194,T/0.2806;Gene=INPP5B/NM_005540.2/1;CC=c.152+78G>A;VC=Intron;DM=INPP5B/INPP5B_PH;DM=INPP5B/INPP5B_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:35:0:0:35:1054:121.95:120.01:1.94:1.00:1.00:1.00:60:53.4:0:0:75:76:35:NM_005540.2(INPP5B) c.152+78G>A,NM_005540.2(INPP5B) c.152+78G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 1 38411445 rs871524 G A 269 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.7981,A/0.2019;Gene=INPP5B/NM_005540.2/1;CC=c.135C>T;ProtCh=p.H45=;VC=Silent;DM=INPP5B/INPP5B_PH;DM=INPP5B/INPP5B_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:73:56:0:0:72,1:2349,12:268.69,0.21:150.19,0.00:118.49,0.21:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,53.0:0,0:0,0:55,20:92,131:28,0:NM_005540.2(INPP5B) c.135C>T (p.(=)),NM_005540.2(INPP5B) c.135C>T (p.(=)):0.24,0.24:0.234417,0.234417 1 38411529 . C . . NT END=38411923;NT GT ./. 1 38411981 . G . . NT END=38423857;NT GT ./. 1 38412196 rs41268247 G T 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9882,T/0.01178;Gene=INPP5B/NM_005540.2/1;CC=c.-26-190C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,T:6:0:0:0:3,3:100,78:0.00,7.40:0.00,0.00:0.00,7.40:0.00,0.73:0.00,0.00:0.00,0.73:60,60:6.3,64.0:0,0:0,0:133,102:18,49:6,31:-,NM_005540.2(INPP5B) c.-26-190C>A:-,0.02:-,NOT_FOUND 1 38423853 rs9293 G C 129 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.07788,C/0.9221;PC=0.003;Gene=SF3A3/NM_006802.2/1;CC=c.*5C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:28:0:0:35:1125:129.06:90.60:38.46:1.00:1.00:1.00:60:38.2:0:0:59:88:21:NM_006802.2(SF3A3) c.*5C>G,NM_006802.2(SF3A3) c.*5C>G:0.93,0.93:0.896817,0.896817 1 38423936 . C . . NT END=38425791;NT GT ./. 1 38425629 . CA C 23 idl,rn VT=DEL;SST=Single;DP=13;NP=2;PC=0.502;Gene=SF3A3/NM_006802.2/1;CC=c.1428+162delT;VC=Intron;DM=SF3A3/DUF3449;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:CA,C:8:13:0:12:1,7:33,367:0.00,23.12:0.00,23.12:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:57.0,82.0:0,5:0,0:1,58:149,91:0,33:-,NM_006802.2(SF3A3) c.1428+162delT:-,NOT_FOUND:-,NOT_FOUND 1 38425724 rs17531342 T C 96 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.07708,C/0.9229;Gene=SF3A3/NM_006802.2/1;CC=c.1428+68A>G;VC=Intron;DM=SF3A3/DUF3449 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:23:0:0:26:837:96.05:76.63:19.43:1.00:1.00:1.00:60:53.7:0:0:43:103:25:NM_006802.2(SF3A3) c.1428+68A>G,NM_006802.2(SF3A3) c.1428+68A>G:0.93,0.93:0.893561,0.893561 1 38425848 . C . . NT END=38433715;NT GT ./. 1 38425895 rs28675056 T C 180 nt VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.07708,C/0.9229;Gene=SF3A3/NM_006802.2/1;CC=c.1373-48A>G;VC=Intron;DM=SF3A3/DUF3449 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C:51:24:0:0:51:1557:179.96:65.23:114.74:1.00:1.00:1.00:60:43.9:0:0:112:37:22:NM_006802.2(SF3A3) c.1373-48A>G,NM_006802.2(SF3A3) c.1373-48A>G:0.93,0.93:0.896663,0.896663 1 38426112 rs4653339 T C 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.001997,C/0.998;NP=538;Gene=SF3A3/NM_006802.2/1;CC=c.1373-265A>G;VC=Intron;DM=SF3A3/DUF3449 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:152:17.58:0.00:17.58:1.00:0.00:1.00:60:44.0:0:0:128:23:21:NM_006802.2(SF3A3) c.1373-265A>G,NM_006802.2(SF3A3) c.1373-265A>G:1,1:NOT_FOUND,NOT_FOUND 1 38433807 . C . . NT END=38435025;NT GT ./. 1 38434919 rs4653342 C T 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.07887,T/0.9211;Gene=SF3A3/NM_006802.2/1;CC=c.1281+107G>A;VC=Intron;DM=SF3A3/DUF3449 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:440:50.20:50.20:0.00:1.00:1.00:0.00:60:54.6:0:0:78:73:34:NM_006802.2(SF3A3) c.1281+107G>A,NM_006802.2(SF3A3) c.1281+107G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 38435137 . C . . NT END=38435242;NT GT ./. 1 38435408 . C . . NT END=38442555;NT GT ./. 1 38442547 rs10890216 G A 91 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.07847,A/0.9215,C/.;PC=0.237;Gene=SF3A3/NM_006802.2/1;CC=c.1005+9C>T;VC=Intron;DM=SF3A3/DUF3449 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:22:0:0:26:784:90.67:59.88:30.80:1.00:1.00:1.00:60:40.8:0:0:50:98:29:NM_006802.2(SF3A3) c.1005+9C>T,NM_006802.2(SF3A3) c.1005+9C>T:0.93,0.93:0.895186,0.895186 1 38442626 . C . . NT END=38444391;NT GT ./. 1 38444333 rs6660034 A G 143 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.07847,G/0.9215;PC=0.105;Gene=SF3A3/NM_006802.2/1;CC=c.935+59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G,T:39:37:0:0:38,1:1256,11:143.24,0.27:133.51,0.00:9.72,0.27:1.00,0.00:1.00,0.00:1.00,0.00:60,48:36.5,208.0:0,0:0,0:36,31:111,99:21,0:NM_006802.2(SF3A3) c.935+59T>C,NM_006802.2(SF3A3) c.935+59T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 38444500 . C . . NT END=38444659;NT GT ./. 1 38444728 . C . . NT END=38445136;NT GT ./. 1 38445206 . C . . NT END=38446257;NT GT ./. 1 38445393 rs7364991 A G 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.001997,G/0.998;NP=1102;PC=0.002;Gene=SF3A3/NM_006802.2/1;CC=c.691-188T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:179:20.72:0.00:20.72:1.00:0.00:1.00:60:41.2:0:0:121:14:25:NM_006802.2(SF3A3) c.691-188T>C,NM_006802.2(SF3A3) c.691-188T>C:1,1:NOT_FOUND,NOT_FOUND 1 38446097 rs147744511 C CA 10 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;Gene=SF3A3/NM_006802.2/1;CC=c.690+160_690+161insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,CA,D:18:18:4:3:11,4,3:317,123,99:0.00,10.40,8.13:0.00,10.40,8.13:0.00,0.00,0.00:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.00,0.00:60,60,60:17.5,15.0,3.3:0,0,0:0,0,0:80,55,80:71,93,71:52,26,23:-,NM_006802.2(SF3A3) c.690+160_690+161insT:-,NOT_FOUND:-,NOT_FOUND 1 38446397 . C . . NT END=38447400;NT GT ./. 1 38447234 rs7519426 T G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.07847,G/0.9215;Gene=SF3A3/NM_006802.2/1;CC=c.551+167A>C;VC=Intron;DM=SF3A3/SF3A3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:68.5:0:0:20:130:9:NM_006802.2(SF3A3) c.551+167A>C,NM_006802.2(SF3A3) c.551+167A>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 38447266 rs7512424 C T 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.07847,T/0.9215;Gene=SF3A3/NM_006802.2/1;CC=c.551+135G>A;VC=Intron;DM=SF3A3/SF3A3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:201:22.96:22.96:0.00:1.00:1.00:0.00:60:56.5:0:0:41:109:18:NM_006802.2(SF3A3) c.551+135G>A,NM_006802.2(SF3A3) c.551+135G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 38447484 . C . . NT END=38449840;NT GT ./. 1 38449933 . C . . NT END=38450378;NT GT ./. 1 38450367 rs6680796 A G 108 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.07668,G/0.9233;PC=0.001;Gene=SF3A3/NM_006802.2/1;CC=c.376+12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:30:26:0:0:30:936:107.87:74.12:33.75:1.00:1.00:1.00:60:40.4:0:0:37:103:24:NM_006802.2(SF3A3) c.376+12T>C,NM_006802.2(SF3A3) c.376+12T>C:0.93,0.93:0.896894,0.896894 1 38450452 . C . . NT END=38453244;NT GT ./. 1 38450627 rs4615810 A G 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.001997,G/0.998;Gene=SF3A3/NM_006802.2/1;CC=c.304-176T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:365:41.70:0.00:41.70:1.00:0.00:1.00:60:43.3:0:0:92:59:42:NM_006802.2(SF3A3) c.304-176T>C,NM_006802.2(SF3A3) c.304-176T>C:1,1:NOT_FOUND,NOT_FOUND 1 38453030 rs12024166 C T 14 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.72,T/0.28;Gene=SF3A3/NM_006802.2/1;CC=c.303+215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:122:14.11:12.12:1.99:1.00:1.00:1.00:60:79.0:0:0:50:100:2:NM_006802.2(SF3A3) c.303+215G>A,NM_006802.2(SF3A3) c.303+215G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 1 38453041 rs12044531 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7198,A/0.2802;Gene=SF3A3/NM_006802.2/1;CC=c.303+204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:197:22.56:18.78:3.78:1.00:1.00:1.00:60:86.2:0:0:59:92:28:NM_006802.2(SF3A3) c.303+204C>T,NM_006802.2(SF3A3) c.303+204C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 38453351 . C . . NT END=38453455;NT GT ./. 1 38453509 . C . . NT END=38455219;NT GT ./. 1 38455268 . C . . NT END=38455541;NT GT ./. 1 38455389 rs3935867 C T 99 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.09565,T/0.9044;Gene=SF3A3/NM_006802.2/1;CC=c.97-122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:G,T:28:12:0:0:1,27:10,862:0.29,98.61:0.29,39.54:0.00,59.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:102.0,51.5:0,0:0,0:64,76:87,75:0,33:NM_006802.2(SF3A3) c.97-122G>A,NM_006802.2(SF3A3) c.97-122G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 38455638 . C . . NT END=38463076;NT GT ./. 1 38462387 rs61029947 A AAC 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6404,AAC/0.3596;DB;DBA=NA;PAF=A/0.6404,AAC/0.3596;NP=1;NP=7;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,AAC:8:8:4:0:4,4:112,129:0.00,12.41:0.00,9.58:0.00,2.83:0.00,0.87:0.00,0.87:0.00,0.96:60,60:44.8,31.0:0,0:0,0:62,62:87,88:39,13:-,NM_006802.2(SF3A3) c.-124-u6627_-124-u6626insGT:-,NOT_FOUND:-,NOT_FOUND 1 38462898 rs4274021 T A 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.0639,A/0.9361;PC=0.001;Gene=FHL3/NM_001243878.1/0;CC=c.*179A>T;VC=3UTR;Gene=FHL3/NM_004468.4/1;CC=c.*179A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:272:31.45:31.45:0.00:1.00:1.00:0.00:60:88.8:0:0:31:118:22:NM_004468.4(FHL3) c.=,NM_004468.4(FHL3) c.=:0.95,0.95:NOT_FOUND,NOT_FOUND 1 38462905 rs12724533 C G 31 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.0629,G/0.9371;PC=0.001;Gene=FHL3/NM_001243878.1/0;CC=c.*172G>C;VC=3UTR;Gene=FHL3/NM_004468.4/1;CC=c.*172G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:268:31.03:31.03:0.00:1.00:1.00:0.00:60:88.8:0:0:38:111:22:NM_004468.4(FHL3) c.=,NM_004468.4(FHL3) c.=:0.95,0.95:NOT_FOUND,NOT_FOUND 1 38463232 . C . . NT END=38463355;NT GT ./. 1 38463543 . C . . NT END=38463634;NT GT ./. 1 38463805 . C . . NT END=38464645;NT GT ./. 1 38464639 rs4570384 C G 422 nt VT=SNV;PN=A;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.001997,G/0.998;PC=0.001;Gene=FHL3/NM_001243878.1/0;CC=c.7+7G>C;VC=Intron;Gene=FHL3/NM_004468.4/1;CC=c.331+7G>C;VC=Intron;DM=FHL3/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:110:95:0:0:110:3696:421.92:309.46:112.46:1.00:1.00:1.00:60:40.6:0:0:52:94:26:NM_004468.4(FHL3) c.331+7G>C,NM_004468.4(FHL3) c.331+7G>C:1,1:0.998232,0.998232 1 38464821 . C . . NT END=38464928;NT GT ./. 1 38465085 . G . . NT END=38478474;NT GT ./. 1 38465315 rs4634868 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7254,A/0.2746;PC=0.375;Gene=FHL3/NM_001243878.1/0;CC=c.-168-495C>T;VC=Intron;Gene=FHL3/NM_004468.4/1;CC=c.-20-211C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:9:0:0:0:4,5:132,157:12.42,0.00:0.00,0.00:12.42,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:38.8,10.6:0,0:0,0:102,133:49,17:5,11:NM_004468.4(FHL3) c.-20-211C>T,-:0.23,-:NOT_FOUND,- 1 38478538 . G . . NT END=38482030;NT GT ./. 1 38482093 . G . . NT END=38483339;NT GT ./. 1 38483296 . AT A 7 idl,rn VT=DEL;SST=Single;DP=28;NP=1;PC=0.001;Gene=UTP11L/NM_016037.3/1;CC=c.126-31delT;VC=Intron;DM=UTP11L/Utp11;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:AT,I,A:27:26:3:4:21,3,3:625,96,131:0.00,7.10,7.50:0.00,7.29,4.88:0.00,-0.20,2.61:0.00,0.00,0.44:0.00,0.00,0.87:0.00,0.00,0.55:60,60,60:22.6,23.3,3.3:0,0,1:0,0,0:64,4,47:85,146,102:36,1,27:-,NM_016037.3(UTP11L) c.126-43delT:-,NOT_FOUND:-,NOT_FOUND 1 38483443 . G . . NT END=38484135;NT GT ./. 1 38484250 . G . . NT END=38484730;NT GT ./. 1 38484665 . GT G 16 idl,rn VT=DEL;SST=Single;DP=35;NP=13;PC=0.015;Gene=UTP11L/NM_016037.3/1;CC=c.343-51delT;VC=Intron;DM=UTP11L/Utp11;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:GT,T,I,G:32:30:6:9:19,1,6,6:590,11,185,284:0.00,0.05,15.22,15.92:0.00,-0.21,11.66,12.41:0.00,0.26,3.56,3.51:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.73:60,60,60,60:31.8,11.0,73.3,11.7:0,0,0,3:0,0,0,0:39,29,35,27:111,122,116,123:24,0,17,16:-,NM_016037.3(UTP11L) c.343-65delT:-,NOT_FOUND:-,NOT_FOUND 1 38484825 . G . . NT END=38484924;NT GT ./. 1 38485056 . G . . NT END=38488370;NT GT ./. 1 38485115 . GT G 14 idl,rn VT=DEL;SST=Single;DP=57;NP=19;PC=0.004;Gene=UTP11L/NM_016037.3/1;CC=c.567+73delT;VC=Intron;DM=UTP11L/Utp11;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:GT,T,I,G:56:16:2:8:43,5,2,6:1331,124,64,225:0.00,7.90,3.78,14.13:0.00,1.25,-0.15,0.89:0.00,6.65,3.93,13.24:0.00,0.00,0.00,0.83:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.98:60,60,60,60:15.5,66.0,109.0,17.2:0,0,0,1:0,0,0,0:120,89,120,102:30,62,28,45:24,13,0,5:-,NM_016037.3(UTP11L) c.567+61delT:-,NOT_FOUND:-,NOT_FOUND 1 38488482 . G . . NT END=38489216;NT GT ./. 1 38489301 . C . . NT END=38511059;NT GT ./. 1 38512416 . G . . NT END=39305224;NT GT ./. 1 38690895 rs9662065 A ATG 16 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,ATG:7:4:5:0:2,5:41,157:0.00,16.30:0.00,4.35:0.00,11.96:0.00,0.98:0.00,0.99:0.00,0.99:52,70:91.0,62.0:0,0:0,0:61,66:77,85:16,39:-,chr1 g.38690895_38690896insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 38690931 rs60414362 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5268,G/0.4732;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,G,T:8:4:0:0:1,6,1:7,195,10:0.00,21.11,0.58:0.00,3.40,0.58:0.00,17.71,0.00:0.00,1.00,0.00:0.00,0.85,0.00:0.00,1.00,0.00:52,60,27:46.0,66.2,136.0:0,0,0:0,0,0:89,81,114:38,68,37:0,29,0:chr1 g.38690930A>G (intergenic),chr1 g.38690930A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 38806207 rs60580670 AGT A 15 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=24;PC=0.006;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:AGT,I,A:11:10:1:6:5,1,5:172,33,174:0.00,2.51,15.21:0.00,2.55,5.61:0.00,-0.04,9.61:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.95:60,60,60:16.8,0.0,19.6:0,0,1:0,0,0:103,28,52:31,106,85:22,0,21:-,chr1 g.38806208_38806209delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 38964863 rs66523089 AACAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=86;PC=0.756;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AACAC,A:3:3:0:3:1,2:31,101:0.00,6.75:0.00,3.38:0.00,3.38:0.00,0.51:0.00,0.89:0.00,0.51:60,60:0.0,0.0:0,1:0,0:113,65:36,60:0,4:-,chr1 g.38964864_38964867delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 39005359 rs58180222 C CTGTG 12 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=7;PC=0.002;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,CTGTG,D:14:12:5:1:9,4,1:294,166,28:0.00,11.80,1.83:0.00,10.72,-0.17:0.00,1.08,2.00:0.00,0.76,0.00:0.00,0.95,0.00:0.00,0.86,0.00:60,60,60:6.7,15.2,12.0:0,1,0:0,0,0:82,45,67:69,81,84:21,14,0:-,chr1 g.39005359_39005360insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 39009325 rs12076633 T G 6 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9141,G/0.08586;NP=9;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:4:3:0:4:2,2:67,66:6.45,0.00:3.12,0.00:3.33,0.00:0.51,0.00:0.89,0.00:0.79,0.00:60,60:33.5,8.5:0,0:0,0:97,104:37,43:17,4:chr1 g.39009324T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 39174605 rs185161631 A G 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=8;PC=0.983 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:39:0:0:23,21:757,688:0.00,65.59:0.00,40.08:0.00,25.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,41.9:0,0:0,0:95,61:49,84:30,21:-,chr1 g.39174604A>G (intergenic):-,0.0014:-,NOT_FOUND 1 39305002 rs201062095 AT A 8 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;PC=0.925;Gene=RRAGC/NM_001271851.1/0;CC=c.*222delA;VC=3UTR;Gene=RRAGC/NM_022157.3/1;CC=c.*222delA;VC=3UTR;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:AT,A:8:9:0:4:5,3:161,123:0.00,8.02:0.00,8.11:0.00,-0.09:0.00,0.64:0.00,0.64:0.00,0.56:60,60:32.8,36.7:0,1:0,0:86,68:65,60:20,29:-,chr1 g.39305003delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 39305377 . C . . NT END=39311610;NT GT ./. 1 39311760 . C . . NT END=39317286;NT GT ./. 1 39317430 . C . . NT END=39318045;NT GT ./. 1 39318161 . C . . NT END=39321379;NT GT ./. 1 39321580 . C . . NT END=39322550;NT GT ./. 1 39322323 rs4360495 C G 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1174,G/0.8826;PC=0.002;Gene=RRAGC/NM_001271851.1/0;CC=c.339+228G>C;VC=Intron;Gene=RRAGC/NM_022157.3/1;CC=c.441+228G>C;VC=Intron;DM=RRAGC/Gtr1_RagA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:30.5:0:0:23:126:4:NM_022157.2(RRAGC) c.441+228G>C,NM_022157.2(RRAGC) c.441+228G>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 39322755 . C . . NT END=39325081;NT GT ./. 1 39324859 rs1925679 C G 39 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5847,G/0.4153;PC=0.009;Gene=RRAGC/NM_001271851.1/0;CC=c.237+223G>C;VC=Intron;Gene=RRAGC/NM_022157.3/1;CC=c.237+223G>C;VC=Intron;DM=RRAGC/Gtr1_RagA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:345:39.27:39.27:0.00:1.00:1.00:0.00:60:69.3:0:0:50:96:18:NM_022157.2(RRAGC) c.237+223G>C,NM_022157.2(RRAGC) c.237+223G>C:0.48,0.48:NOT_FOUND,NOT_FOUND 1 39325063 rs1925678 T C 373 nt VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.5819,C/0.4181;Gene=RRAGC/NM_001271851.1/0;CC=c.237+19A>G;VC=Intron;Gene=RRAGC/NM_022157.3/1;CC=c.237+19A>G;VC=Intron;DM=RRAGC/Gtr1_RagA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:107:93:0:0:105,2:3244,12:373.45,0.13:282.94,0.13:90.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.0,152.0:0,0:0,0:34,91:114,58:20,5:NM_022157.2(RRAGC) c.237+19A>G,NM_022157.2(RRAGC) c.237+19A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 39325319 . G . . NT END=39330341;NT GT ./. 1 39330387 . C . . NT END=39332551;NT GT ./. 1 39330580 rs2147913 T C 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.1186,C/0.8814;Gene=MYCBP/NM_012333.4/1;CC=c.268-194A>G;VC=Intron;Gene=MYCBP/NR_037632.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037633.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037634.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037635.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037636.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037637.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:1:0:0:14:478:54.48:2.04:52.44:1.00:1.00:1.00:60:34.1:0:0:126:24:14:NM_012333.4(MYCBP) c.268-194A>G,NM_012333.4(MYCBP) c.268-194A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 39332322 rs9439077 C T 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6865,T/0.3135;PC=0.014;Gene=MYCBP/NM_012333.4/1;CC=c.267+230G>A;VC=Intron;Gene=MYCBP/NR_037632.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037633.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037634.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037635.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037636.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037637.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:240:27.80:27.80:0.00:1.00:1.00:0.00:60:43.1:0:0:42:109:18:NM_012333.4(MYCBP) c.267+230G>A,NM_012333.4(MYCBP) c.267+230G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 39332682 . C . . NT END=39333233;NT GT ./. 1 39333118 rs11338710 CA C 7 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CA/0.5913,C/0.4087;NP=10;PC=0.002;Gene=MYCBP/NM_012333.4/1;CC=c.137+115delT;VC=Intron;Gene=MYCBP/NR_037632.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037633.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037634.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037635.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037636.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037637.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CA,I,C:17:18:3:4:12,2,3:412,93,118:0.00,4.42,6.63:0.00,4.42,4.16:0.00,0.00,2.48:0.00,0.00,0.51:0.00,0.00,0.90:0.00,0.00,0.44:60,60,60:27.2,61.5,84.7:0,1,1:0,0,0:15,39,100:136,111,46:12,22,14:-,NM_012333.4(MYCBP) c.137+115delT:-,NOT_FOUND:-,NOT_FOUND 1 39333283 . C . . NT END=39338689;NT GT ./. 1 39338763 . C . . NT END=39338962;NT GT ./. 1 39338978 . A . . NT END=39340222;NT GT ./. 1 39339164 rs41270781 G A 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9918,A/0.008187;PC=0.362;Gene=GJA9-MYCBP/NR_037633.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037634.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037635.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037636.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037637.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:23:0:0:0:12,1,10:399,6,311:39.03,-0.06,0.00:0.00,0.00,0.00:39.03,-0.06,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.2,139.0,6.7:0,0,0:0,0,0:128,143,125:23,7,25:20,0,16:NR_037633.1(GJA9-MYCBP) n.2794+103C>T,-:0.02,-:NOT_FOUND,- 1 39340001 rs66794703 T TA 17 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7368,TA/0.2632,TAA/.;DB;DBA=NA;PAF=T/0.7368,TA/0.2632,TT/.;DB;DBA=NA;PAF=T/0.9397,A/0.0603;DB;DBA=NA;PAF=T/0.7368,TA/0.2632;NP=39;Gene=GJA9-MYCBP/NR_037633.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037634.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037635.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037636.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037637.1/0;VC=NonCoding;Gene=GJA9/NM_030772.4/1;CC=c.*221dupT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:T,TA:6:7:6:0:1,5:33,194:0.00,17.31:0.00,17.31:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:88.0,24.8:0,1:0,0:60,33:91,118:0,16:-,NR_037633.1(GJA9-MYCBP) n.2059dupT:-,NOT_FOUND:-,NOT_FOUND 1 39340282 rs880303 C T 247 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.6891,T/0.3109;Gene=GJA9-MYCBP/NR_037633.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037634.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037635.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037636.1/0;VC=NonCoding;Gene=GJA9-MYCBP/NR_037637.1/0;VC=NonCoding;Gene=GJA9/NM_030772.4/1;CC=c.1489G>A;ProtCh=p.V497I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:55:0:0:67:2153:247.10:169.13:77.97:1.00:1.00:1.00:60:36.4:0:0:59:88:27:NM_030772.4(GJA9) c.1489G>A (p.Val497Ile),NM_030772.4(GJA9) c.1489G>A (p.Val497Ile):0.35,0.35:0.364524,0.364524 1 39341771 . G . . NT END=39352175;NT GT ./. 1 39352083 rs4491033 T G 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6162,G/0.3838;Gene=RHBDL2/NM_001304746.1/0;CC=c.*93A>C;VC=3UTR;Gene=RHBDL2/NM_017821.4/1;CC=c.*93A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:18:0:0:18:579:66.43:62.46:3.98:1.00:1.00:1.00:60:53.2:0:0:54:92:20:NM_017821.3(RHBDL2) c.*93A>C,NM_017821.3(RHBDL2) c.*93A>C:0.4,0.4:NOT_FOUND,NOT_FOUND 1 39352271 rs2147914 G T 214 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.6895,T/0.3105;PC=1.000;Gene=RHBDL2/NM_001304746.1/0;CC=c.1057C>A;ProtCh=p.L353M;VC=Missense;Gene=RHBDL2/NM_017821.4/1;CC=c.817C>A;ProtCh=p.L273M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:T:60:38:0:0:60:1860:214.39:100.00:114.39:1.00:1.00:1.00:60:38.9:0:0:67:83:34:NM_017821.3(RHBDL2) c.817C>A (p.Leu273Met),NM_017821.3(RHBDL2) c.817C>A (p.Leu273Met):0.35,0.35:0.364601,0.364601 1 39352356 . C . . NT END=39353634;NT GT ./. 1 39352492 rs3790441 G A 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7043,A/0.2957;PC=0.006;Gene=RHBDL2/NM_001304746.1/0;CC=c.973-137C>T;VC=Intron;Gene=RHBDL2/NM_017821.4/1;CC=c.733-137C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:408:46.52:0.00:46.52:1.00:0.00:1.00:60:46.6:0:0:73:75:24:NM_017821.3(RHBDL2) c.733-137C>T,NM_017821.3(RHBDL2) c.733-137C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 39353697 . C . . NT END=39358835;NT GT ./. 1 39358897 . C . . NT END=39361640;NT GT ./. 1 39361425 rs4532801 T G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5633,G/0.4367;Gene=RHBDL2/NM_001304746.1/0;CC=c.849+216A>C;VC=Intron;Gene=RHBDL2/NM_017821.4/1;CC=c.609+216A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:54.5:0:0:55:87:16:NM_017821.3(RHBDL2) c.609+216A>C,NM_017821.3(RHBDL2) c.609+216A>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 39361615 rs9438984 G A 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6895,A/0.3105;Gene=RHBDL2/NM_001304746.1/0;CC=c.849+26C>T;VC=Intron;Gene=RHBDL2/NM_017821.4/1;CC=c.609+26C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:12:0:0:15:469:54.02:34.78:19.23:1.00:1.00:1.00:60:34.1:0:0:47:103:37:NM_017821.3(RHBDL2) c.609+26C>T,NM_017821.3(RHBDL2) c.609+26C>T:0.35,0.35:0.363678,0.363678 1 39361742 . C . . NT END=39376993;NT GT ./. 1 39377107 . C . . NT END=39381233;NT GT ./. 1 39378635 rs57827780 C CGTGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5018,CGT/0.4982,CGTGT/.,CGTGTGT/.;DB;DBA=NA;PAF=NA;NP=21;NP=5;PC=0.001;Gene=RHBDL2/NM_001304746.1/0;CC=c.636-1530_636-1529insACACAC;VC=Intron;Gene=RHBDL2/NM_017821.4/1;CC=c.396-1530_396-1529insACACAC;VC=Intron;DM=RHBDL2/Rhomboid;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CGTGTGT:3:4:3:0:1,2:34,99:0.00,6.65:0.00,1.59:0.00,5.06:0.00,0.51:0.00,0.51:0.00,0.51:60,60:91.0,49.0:0,1:0,0:45,48:79,82:0,7:-,NM_017821.3(RHBDL2) c.396-1530_396-1529insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 39381383 . C . . NT END=39384638;NT GT ./. 1 39384826 rs147715012 A G 181 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=A/0.9976,G/0.002396;NP=60;Gene=RHBDL2/NM_001304746.1/0;CC=c.299T>C;ProtCh=p.M100T;VC=Missense;Gene=RHBDL2/NM_017821.4/1;CC=c.59T>C;ProtCh=p.M20T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:121:65:0:0:55,2,63,1:1627,20,1871,14:0.00,-0.08,181.43,0.01:0.00,0.02,73.25,0.11:0.00,-0.11,108.18,-0.11:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:11.7,159.5,37.0,14.0:0,0,0,0:0,0,0,0:77,54,77,150:69,96,74,1:26,9,38,0:-,NM_017821.3(RHBDL2) c.59T>C (p.Met20Thr):-,0.0023:-,0.007381 1 39385010 . C . . NT END=39391625;NT GT ./. 1 39385086 rs7522863 A C 182 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.1558,C/0.8442;PC=0.001;Gene=RHBDL2/NM_001304746.1/0;CC=c.116-77T>G;VC=Intron;Gene=RHBDL2/NM_017821.4/1;CC=c.-125-77T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:C:48:10:0:0:48:1589:181.74:19.88:161.85:1.00:1.00:1.00:60:36.8:0:0:107:42:30:NM_017821.3(RHBDL2) c.-125-77T>G,NM_017821.3(RHBDL2) c.-125-77T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 39391921 . c . . NT END=39395066;NT GT ./. 1 39391986 rs1047865 G C 115 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3622,C/0.6378;PC=0.003;Gene=RHBDL2/NM_001304746.1/0;CC=c.115+3081C>G;VC=Intron;Gene=RHBDL2/NM_017821.4/1;CC=c.-125-6977C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:3:0:0:34:993:115.37:7.00:108.37:1.00:1.00:1.00:60:42.9:0:0:92:58:29:NM_017821.3(RHBDL2) c.-125-6977C>G,NM_017821.3(RHBDL2) c.-125-6977C>G:0.66,0.66:NOT_FOUND,NOT_FOUND 1 39395285 . G . . NT END=39457052;NT GT ./. 1 39457016 rs11547138 C T 193 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.8474,T/0.1526;Gene=AKIRIN1/NM_001136275.1/0;CC=c.-37C>T;VC=5UTR;Gene=AKIRIN1/NM_024595.2/1;CC=c.-37C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:92:85:0:0:35,57:1093,1922:0.00,192.83:0.00,146.18:0.00,46.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,42.7:0,0:0,0:38,42:111,107:19,26:-,NM_024595.2(AKIRIN1) c.-37C>T:-,0.21:-,NOT_FOUND 1 39457273 . G . . NT END=39463842;NT GT ./. 1 39457293 rs111311750 T C 129 nt VT=SNV;PN=G;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.8149,C/0.1851;PC=0.728;Gene=AKIRIN1/NM_001136275.1/0;CC=c.220+21T>C;VC=Intron;Gene=AKIRIN1/NM_024595.2/1;CC=c.220+21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:41:0:0:40,40:1338,1250:128.81,0.00:50.96,0.00:77.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,7.8:0,0:0,0:122,122:21,28:16,13:NM_024595.2(AKIRIN1) c.220+21T>C,-:0.23,-:0.219657,- 1 39457332 . T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;NP=2;Gene=AKIRIN1/NM_001136275.1/0;CC=c.220+60T>G;VC=Intron;Gene=AKIRIN1/NM_024595.2/1;CC=c.220+60T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G,T:34:9:0:0:1,8,25:12,118,618:0.04,7.73,0.00:-0.10,-0.91,0.00:0.14,8.64,0.00:0.00,0.98,0.00:0.00,0.87,0.00:0.00,1.00,0.00:60,60,60:49.0,65.0,32.2:0,1,0:0,0,0:144,32,145:7,99,6:0,11,3:NM_024595.2(AKIRIN1) c.220+60T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 39457335 . T G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;PC=1.000;Gene=AKIRIN1/NM_001136275.1/0;CC=c.220+63T>G;VC=Intron;Gene=AKIRIN1/NM_024595.2/1;CC=c.220+63T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,G,T,I:30:8:1:0:1,8,20,1:28,145,504,24:1.51,11.04,0.00,1.12:-0.09,0.20,0.00,-0.09:1.60,10.84,0.00,1.21:0.00,0.98,0.00,0.00:0.00,0.88,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:36.0,77.9,21.3,44.0:0,0,0,0:0,0,0,0:13,51,147,32:137,62,4,105:0,18,2,0:NM_024595.2(AKIRIN1) c.220+63T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 39457341 . A G 11 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;PC=0.308;Gene=AKIRIN1/NM_001136275.1/0;CC=c.220+69A>G;VC=Intron;Gene=AKIRIN1/NM_024595.2/1;CC=c.220+69A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:21:5:0:0:13,8:246,131:0.00,10.82:0.00,0.21:0.00,10.61:0.00,0.99:0.00,0.90:0.00,1.00:60,60:52.8,33.8:0,2:0,0:61,31:53,109:31,24:-,NM_024595.2(AKIRIN1) c.220+69A>G:-,NOT_FOUND:-,NOT_FOUND 1 39463984 . G . . NT END=39466643;NT GT ./. 1 39466626 rs11205525 A G 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.7746,G/0.2254;Gene=AKIRIN1/NM_001136275.1/0;CC=c.362-2393A>G;VC=Intron;Gene=AKIRIN1/NM_024595.2/1;CC=c.362-18A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:56:0:0:45,27:1505,862:0.00,78.39:0.00,41.92:0.00,36.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,34.6:0,0:0,0:76,77:71,68:36,27:-,NM_024595.2(AKIRIN1) c.362-18A>G:-,0.27:-,0.349531 1 39466779 . G . . NT END=39469018;NT GT ./. 1 39466786 rs10888613 C G 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.7746,G/0.2254;Gene=AKIRIN1/NM_001136275.1/0;CC=c.362-2233C>G;VC=Intron;Gene=AKIRIN1/NM_024595.2/1;CC=c.496+8C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:56:27:0:0:31,25:1040,826:0.00,77.81:0.00,32.53:0.00,45.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,33.5:0,0:0,0:93,60:57,49:29,40:-,NM_024595.2(AKIRIN1) c.496+8C>G:-,0.27:-,0.349454 1 39468805 rs4147754 C A 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4265,A/0.5735;PC=0.050;Gene=AKIRIN1/NM_001136275.1/0;CC=c.362-214C>A;VC=Intron;Gene=AKIRIN1/NM_024595.2/1;CC=c.497-214C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:229:26.24:26.24:0.00:1.00:1.00:0.00:60:41.7:0:0:48:101:32:NM_024595.2(AKIRIN1) c.497-214C>A,NM_024595.2(AKIRIN1) c.497-214C>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 39469091 . G . . NT END=39469716;NT GT ./. 1 39469728 . A . . NT END=39494396;NT GT ./. 1 39494613 . G . . NT END=39500063;NT GT ./. 1 39494666 rs397860718 C CT 30 sb;idl,rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.4607,CT/0.5393,CTT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4607,CT/0.5393;NP=3;NP=57;Gene=NDUFS5/NM_001184979.1/0;CC=c.216+69_216+70insT;VC=Intron;Gene=NDUFS5/NM_004552.2/1;CC=c.216+69_216+70insT;VC=Intron;DM=NDUFS5/Ndufs5;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT,D:34:9:14:2:18,4,11,1:601,108,433,62:0.00,7.97,30.45,1.89:0.00,-0.22,-0.67,-0.05:0.00,8.18,31.12,1.94:0.00,0.00,1.00,0.00:0.00,0.00,0.93,0.00:0.00,0.00,1.00,0.00:60,60,60,60:26.8,98.8,61.3,66.0:0,2,3,1:0,0,0,0:136,11,110,93:14,138,41,56:7,8,4,2:-,NM_004552.2(NDUFS5) c.216+54_216+55insT:-,NOT_FOUND:-,NOT_FOUND 1 39494687 rs3768323 G A 98 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.4603,A/0.5397;PC=0.003;Gene=NDUFS5/NM_001184979.1/0;CC=c.216+75G>A;VC=Intron;Gene=NDUFS5/NM_004552.2/1;CC=c.216+75G>A;VC=Intron;DM=NDUFS5/Ndufs5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:2:0:0:27:853:98.16:3.68:94.49:1.00:1.00:1.00:60:58.6:0:0:92:58:42:NM_004552.2(NDUFS5) c.216+75G>A,NM_004552.2(NDUFS5) c.216+75G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 39494760 rs3768322 G A 50 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4601,A/0.5399;PC=0.008;Gene=NDUFS5/NM_001184979.1/0;CC=c.216+148G>A;VC=Intron;Gene=NDUFS5/NM_004552.2/1;CC=c.216+148G>A;VC=Intron;DM=NDUFS5/Ndufs5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:0:0:0:13:434:49.60:0.00:49.60:1.00:0.00:1.00:60:81.1:0:0:113:37:12:NM_004552.2(NDUFS5) c.216+148G>A,NM_004552.2(NDUFS5) c.216+148G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 39500169 . A . . NT END=39549890;NT GT ./. 1 39550111 . G . . NT END=39571111;NT GT ./. 1 39550210 rs260972 C T 97 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.1665,T/0.8335;Gene=MACF1/NM_012090.5/1;CC=c.220+100C>T;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/GAS2;DM=MACF1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:2:0:0:27:842:97.01:3.83:93.18:1.00:1.00:1.00:60:40.7:0:0:89:62:35:NM_012090.4(MACF1) c.220+100C>T,NM_012090.4(MACF1) c.220+100C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 39570999 rs6665331 C T 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=MACF1/NM_012090.5/1;CC=c.220+20889C>T;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/GAS2;DM=MACF1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:47:47:0:0:20,1,26:616,25,838:0.00,1.14,82.50:0.00,1.15,77.72:0.00,-0.02,4.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:15.8,110.0,52.4:0,0,0:0,0,0:28,105,31:123,46,118:18,0,26:-,NM_012090.4(MACF1) c.220+20889C>T:-,0.52:-,NOT_FOUND 1 39571211 rs13374459 T C 243 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=T/0.644,C/0.356;PC=0.980;Gene=MACF1/NM_012090.5/1;CC=c.220+21101T>C;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/GAS2;DM=MACF1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:154:109:0:0:79,1,74:2517,29,2264:243.31,0.99,0.00:146.81,1.07,0.00:96.50,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.6,29.0,13.2:0,0,0:0,0,0:73,150,71:70,1,78:40,0,38:NM_012090.4(MACF1) c.220+21101T>C,-:0.38,-:NOT_FOUND,- 1 39571390 . G . . NT END=39696853;NT GT ./. 1 39636901 rs6660622 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3856,G/0.6144;PC=0.007;Gene=MACF1/NM_012090.5/1;CC=c.221-59953A>G;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/GAS2;DM=MACF1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:3:0:0:1,4:33,138:0.00,14.62:0.00,5.52:0.00,9.10:0.00,0.96:0.00,0.99:0.00,1.00:60,60:0.0,53.2:0,0:0,0:74,94:77,57:0,21:-,NM_012090.4(MACF1) c.221-59953A>G:-,0.63:-,NOT_FOUND 1 39696647 rs2490951 G A 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.04353,A/0.9565;PC=0.009;Gene=MACF1/NM_012090.5/1;CC=c.221-207G>A;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/GAS2;DM=MACF1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:378:43.52:43.52:0.00:1.00:1.00:0.00:60:57.2:0:0:73:76:45:NM_012090.4(MACF1) c.221-207G>A,NM_012090.4(MACF1) c.221-207G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 39696718 rs1932507 C A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9469,A/0.05312;Gene=MACF1/NM_012090.5/1;CC=c.221-136C>A;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/GAS2;DM=MACF1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:17:0:0:8,9:240,305:22.69,0.00:22.69,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:47.8,35.1:0,0:0,0:41,62:108,89:29,41:NM_012090.4(MACF1) c.221-136C>A,-:0.04,-:NOT_FOUND,- 1 39696916 . G . . NT END=39715685;NT GT ./. 1 39715776 . G . . NT END=39717517;NT GT ./. 1 39717566 rs2490948 T C 364 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.04273,C/0.9573;PC=1.000;Gene=MACF1/NM_012090.5/1;CC=c.372+1791T>C;VC=Intron;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/GAS2;DM=MACF1/EF-hand_7;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:99:66:0:0:99:3173:364.36:168.07:196.29:1.00:1.00:1.00:60:40.0:0:0:77:53:34:NM_012090.4(MACF1) c.372+1791T>C,NM_012090.4(MACF1) c.372+1791T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 39717614 . G . . NT END=39719969;NT GT ./. 1 39720048 . G . . NT END=39723607;NT GT ./. 1 39723701 . G . . NT END=39734136;NT GT ./. 1 39735393 . G . . NT END=39747879;NT GT ./. 1 39748047 . G . . NT END=39748860;NT GT ./. 1 39748921 rs2275188 G A 40 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.406,A/0.594;PC=0.999;Gene=MACF1/NM_012090.5/1;CC=c.771G>A;ProtCh=p.Q257=;VC=Silent;DM=MACF1/CH;DM=MACF1/CH;DM=MACF1/Spectrin;DM=MACF1/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:29:0:0:14,24:440,814:39.80,0.00:22.53,0.00:17.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.3,4.9:0,0:0,0:87,71:63,77:21,43:NM_012090.4(MACF1) c.771G>A (p.(=)),-:0.6,-:0.57781,- 1 39748974 . G . . NT END=39749080;NT GT ./. 1 39749188 . G . . NT END=39749737;NT GT ./. 1 39749858 . G . . NT END=39750004;NT GT ./. 1 39750101 . G . . NT END=39750754;NT GT ./. 1 39750883 . G . . NT END=39750968;NT GT ./. 1 39751063 . G . . NT END=39751275;NT GT ./. 1 39751172 . CT C 19 idl,rn VT=DEL;SST=Single;DP=46;NP=9;Gene=MACF1/NM_012090.5/1;CC=c.1369-89delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:CT,I,C:40:18:5:12:29,4,7:898,164,382:0.00,9.63,18.64:0.00,2.28,9.42:0.00,7.34,9.22:0.00,0.00,0.93:0.00,0.00,0.89:0.00,0.00,0.98:60,60,60:29.5,8.5,8.9:0,1,5:0,0,0:96,119,45:51,32,104:39,6,32:-,NM_012090.4(MACF1) c.1369-103delT:-,NOT_FOUND:-,NOT_FOUND 1 39751431 . G . . NT END=39752957;NT GT ./. 1 39753235 . G . . NT END=39757581;NT GT ./. 1 39757711 . G . . NT END=39758437;NT GT ./. 1 39758516 . G . . NT END=39759129;NT GT ./. 1 39758955 rs2484749 A G 37 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2881,G/0.7119;PC=0.002;Gene=MACF1/NM_012090.5/1;CC=c.2008-175A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:319:36.62:34.64:1.99:1.00:1.00:1.00:60:47.5:0:0:70:78:18:NM_012090.4(MACF1) c.2008-175A>G,NM_012090.4(MACF1) c.2008-175A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 39758993 rs6688708 C G 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3484,G/0.6516;PC=0.372;Gene=MACF1/NM_012090.5/1;CC=c.2008-137C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:16:0:0:6,10:208,334:0.00,33.57:0.00,33.79:0.00,-0.21:0.00,1.00:0.00,1.00:0.00,0.75:60,60:31.8,46.0:0,0:0,0:91,26:59,125:17,17:-,NM_012090.4(MACF1) c.2008-137C>G:-,0.64:-,NOT_FOUND 1 39759292 . G . . NT END=39760717;NT GT ./. 1 39759367 rs4012674 AGCTTGGGTG A 23 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=AGCTTGGGTG/0.9397,A/0.0603;DB;DBA=NA;PAF=AGCTTGGGTG/0.9397,A/0.0603;NP=193;PC=0.001;Gene=MACF1/NM_012090.5/1;CC=c.2169+80_2169+88delTGGGTGGCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGCTTGGGTG,A:21:3:0:9:12,9:419,254:0.00,23.46:0.00,3.17:0.00,20.29:0.00,1.00:0.00,0.83:0.00,1.00:60,70:3.4,24.2:0,0:0,0:109,90:28,61:31,43:-,NM_012090.4(MACF1) c.2169+77_2169+85delGCTTGGGTG:-,0.05:-,NOT_FOUND 1 39760823 . G . . NT END=39761458;NT GT ./. 1 39761555 . G . . NT END=39763291;NT GT ./. 1 39763242 rs2275187 G A 120 nt VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.4161,A/0.5839;Gene=MACF1/NM_012090.5/1;CC=c.2371-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:67:0:0:40,38:1246,1119:120.18,0.00:77.27,0.00:42.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,5.4:0,0:0,0:41,50:98,91:27,32:NM_012090.4(MACF1) c.2371-50G>A,-:0.59,-:0.577349,- 1 39763418 . G . . NT END=39765881;NT GT ./. 1 39766035 . G . . NT END=39768595;NT GT ./. 1 39766055 rs2275186 C T 117 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.4012,T/0.5988;Gene=MACF1/NM_012090.5/1;CC=c.2649+21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:28:0:0:35,38:1048,1208:0.00,117.00:0.00,29.86:0.00,87.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,45.7:0,0:0,0:84,88:51,60:23,15:-,NM_012090.4(MACF1) c.2649+21C>T:-,0.6:-,0.577656 1 39766179 rs397714478 T TA 9 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1078,TA/.,TAAAAAAA/0.8872,TAAAAAAG/0.004992;DB;DBA=NA;PAF=NA;NP=492;PC=0.026;Gene=MACF1/NM_012090.5/1;CC=c.2649+156dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:T,TA:11:0:3:0:8,3:212,99:0.00,8.55:0.00,0.00:0.00,8.55:0.00,0.60:0.00,0.00:0.00,0.60:60,60:46.6,4.0:0,0:0,0:136,72:15,79:10,7:-,NM_012090.4(MACF1) c.2649+145_2649+146insA:-,NOT_FOUND:-,NOT_FOUND 1 39768751 . G . . NT END=39775241;NT GT ./. 1 39770237 rs372120678 C CT 10 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=2;PC=0.006;Gene=MACF1/NM_012090.5/1;CC=c.2804+1500_2804+1501insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,CT,D:34:10:4:1:29,4,1:951,130,33:0.00,9.62,1.87:0.00,4.12,-0.07:0.00,5.49,1.94:0.00,0.62,0.00:0.00,0.65,0.00:0.00,0.93,0.00:60,70,60:4.3,2.8,0.0:0,0,0:0,0,0:127,81,123:18,69,27:13,49,0:-,NM_012090.4(MACF1) c.2804+1487_2804+1488insT:-,NOT_FOUND:-,NOT_FOUND 1 39775369 . G . . NT END=39775916;NT GT ./. 1 39776101 . G . . NT END=39776502;NT GT ./. 1 39776673 . G . . NT END=39781184;NT GT ./. 1 39780302 rs77086991 C G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9447,G/0.05531;Gene=MACF1/NM_012090.5/1;CC=c.3286-883C>G;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:143:16.21:4.08:12.13:1.00:1.00:1.00:60:47.2:0:0:96:44:13:NM_012090.4(MACF1) c.3286-883C>G,NM_012090.4(MACF1) c.3286-883C>G:0.04,0.04:NOT_FOUND,NOT_FOUND 1 39781364 . G . . NT END=39782062;NT GT ./. 1 39782202 . G . . NT END=39782885;NT GT ./. 1 39783080 . G . . NT END=39784124;NT GT ./. 1 39784288 . G . . NT END=39785335;NT GT ./. 1 39785420 . G . . NT END=39788279;NT GT ./. 1 39785641 rs3116389 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2067,A/0.7933;Gene=MACF1/NM_012090.5/1;CC=c.4044+222G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:41.0:0:0:54:97:18:NM_012090.4(MACF1) c.4044+222G>A,NM_012090.4(MACF1) c.4044+222G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 39788388 . G . . NT END=39788581;NT GT ./. 1 39788681 . G . . NT END=39789864;NT GT ./. 1 39788761 rs79668525 C G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.9423,G/0.05771;Gene=MACF1/NM_012090.5/1;CC=c.4251+81C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:36:2:0:0:20,16:670,514:0.00,48.27:0.00,1.61:0.00,46.66:0.00,1.00:0.00,0.74:0.00,1.00:60,60:4.0,37.9:0,0:0,0:90,91:61,59:27,38:-,NM_012090.4(MACF1) c.4251+81C>G:-,0.04:-,NOT_FOUND 1 39790018 . G . . NT END=39790317;NT GT ./. 1 39790407 . G . . NT END=39792889;NT GT ./. 1 39793026 . G . . NT END=39796874;NT GT ./. 1 39796844 rs71060310 CTTTTTTTTTTT C 52 idl,nt VT=DEL;SST=Single;DP=98;DB;DBA=NA;PAF=CTTTTTTTTTTT/0.0597,C/0.9403;DB;DBA=NA;PAF=CTTTTTTTTTTT/0.0597,C/0.9403;NP=5;PC=0.003;Gene=MACF1/NM_012090.5/1;CC=c.4629+3837_4629+3847delTTTTTTTTTTT;VC=Intron;DM=MACF1/Spectrin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTTTTTTTTT,T,I,C:67:80:1:60:46,1,1,19:1264,11,32,1541:0.00,-0.07,1.49,51.85:0.00,-0.05,0.67,37.53:0.00,-0.02,0.82,14.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:26.1,11.0,68.0,89.4:0,0,0,31:0,0,0,0:93,92,12,50:29,28,76,92:19,0,0,24:-,NM_012090.4(MACF1) c.4629+3820_4629+3830delTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 39799912 rs75770915 C T 135 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.9423,T/0.05771;PC=0.996;Gene=MACF1/NM_012090.5/1;CC=c.4629+6887C>T;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:95:56:0:0:52,43:1597,1424:0.00,134.57:0.00,68.94:0.00,65.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,39.5:0,0:0,0:89,79:59,72:37,35:-,NM_012090.4(MACF1) c.4629+6887C>T:-,0.04:-,0.059059 1 39802326 . G . . NT END=39802853;NT GT ./. 1 39802338 rs562176048 CT C 18 idl,rn VT=DEL;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=13;Gene=MACF1/NM_012090.5/1;CC=c.4629+9325delT;VC=Intron;DM=MACF1/Spectrin;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:CT,T,I,C:77:31:3:11:65,1,3,8:2082,10,100,350:0.00,-0.22,6.08,17.97:0.00,-0.10,-0.30,6.30:0.00,-0.13,6.38,11.67:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:60,60,60,70:16.0,90.0,0.0,19.9:0,0,0,3:0,0,0,0:116,87,66,72:31,56,85,63:23,0,30,24:-,NM_012090.4(MACF1) c.4629+9314delT:-,NOT_FOUND:-,NOT_FOUND 1 39803004 . G . . NT END=39806173;NT GT ./. 1 39806390 . G . . NT END=39806475;NT GT ./. 1 39806610 rs3116396 C T 194 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.04473,T/0.9553;PC=0.030;Gene=MACF1/NM_012090.5/1;CC=c.4630-8540C>T;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:28:0:0:52:1696:194.39:70.06:124.34:1.00:1.00:1.00:60:33.6:0:0:77:70:32:NM_012090.4(MACF1) c.4630-8540C>T,NM_012090.4(MACF1) c.4630-8540C>T:0.96,0.96:0.964401,0.964401 1 39806626 . G . . NT END=39812648;NT GT ./. 1 39806707 . C CT 7 idl,rn VT=INS;SST=Single;DP=26;NP=3;Gene=MACF1/NM_012090.5/1;CC=c.4630-8427_4630-8426insT;VC=Intron;DM=MACF1/Spectrin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:C,T,CT,D:23:7:4:4:16,2,3,2:537,58,123,126:0.00,3.98,7.07,4.17:0.00,-0.14,1.26,-0.14:0.00,4.12,5.81,4.31:0.00,0.00,0.45,0.00:0.00,0.00,0.54,0.00:0.00,0.00,0.88,0.00:60,60,60,60:29.1,49.0,44.3,26.0:0,2,1,2:0,0,0,0:133,73,112,58:17,73,38,92:8,25,4,32:-,NM_012090.4(MACF1) c.4630-8443_4630-8442insT:-,NOT_FOUND:-,NOT_FOUND 1 39812434 rs2490943 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4143,A/0.5857;Gene=MACF1/NM_012090.5/1;CC=c.4630-2716G>A;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:33.8:0:0:42:108:12:NM_012090.4(MACF1) c.4630-2716G>A,NM_012090.4(MACF1) c.4630-2716G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 39812620 rs2490944 G T 133 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.04573,T/0.9543;Gene=MACF1/NM_012090.5/1;CC=c.4630-2530G>T;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:T:37:32:0:0:37:1156:133.23:95.61:37.62:1.00:1.00:1.00:60:34.3:0:0:40:111:22:NM_012090.4(MACF1) c.4630-2530G>T,NM_012090.4(MACF1) c.4630-2530G>T:0.96,0.96:0.963402,0.963402 1 39812822 rs2761764 C A 271 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.04573,A/0.9543,T/.;Gene=MACF1/NM_012090.5/1;CC=c.4630-2328C>A;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:69:40:0:0:69:2379:270.80:106.33:164.48:1.00:1.00:1.00:60:37.7:0:0:78:64:25:NM_012090.4(MACF1) c.4630-2328C>A,NM_012090.4(MACF1) c.4630-2328C>A:0.96,0.96:0.963402,0.963402 1 39812883 . G . . NT END=39815149;NT GT ./. 1 39815300 . G . . NT END=39816456;NT GT ./. 1 39816691 . G . . NT END=39818678;NT GT ./. 1 39818904 . G . . NT END=39823046;NT GT ./. 1 39823566 . G . . NT END=39824368;NT GT ./. 1 39824546 . G . . NT END=39824812;NT GT ./. 1 39824718 rs2256614 C G 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.5863,G/0.4137;PC=0.003;Gene=MACF1/NM_012090.5/1;CC=c.5935-95C>G;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:43:24:0:0:23,20:762,691:0.00,65.75:0.00,30.69:0.00,35.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,42.0:0,0:0,0:59,91:90,59:33,29:-,NM_012090.4(MACF1) c.5935-95C>G:-,0.42:-,NOT_FOUND 1 39824937 . G . . NT END=39826464;NT GT ./. 1 39826391 rs10632223 A ATTAT 37 nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.5865,AT/0.008786,ATTAT/0.4048,ATTTA/.;NP=4;NP=42;PC=0.400;Gene=MACF1/NM_012090.5/1;CC=c.6059-71_6059-70insTTTA;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATTAT:29:26:13:0:16,13:523,397:0.00,37.24:0.00,33.74:0.00,3.50:0.00,1.00:0.00,1.00:0.00,0.94:60,60:4.5,29.6:0,0:0,0:39,55:111,90:25,28:-,NM_012090.4(MACF1) c.6059-74_6059-73insTTAT:-,NOT_FOUND:-,NOT_FOUND 1 39826674 . G . . NT END=39827031;NT GT ./. 1 39827350 . G . . NT END=39833819;NT GT ./. 1 39833503 rs629093 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5835,G/0.4165;Gene=MACF1/NM_012090.5/1;CC=c.6586-317A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:4:4:0:0:1,3:29,62:0.00,6.51:0.00,6.51:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:17.0,63.0:0,0:0,0:36,32:115,119:0,4:-,NM_012090.4(MACF1) c.6586-317A>G:-,0.41:-,NOT_FOUND 1 39833648 . G GA 18 idl,rn VT=INS;SST=Single;DP=16;NP=7;Gene=MACF1/NM_012090.5/1;CC=c.6586-155_6586-154insA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G,GA,D:13:16:6:5:1,4,6,2:32,131,188,149:2.36,0.00,18.29,5.22:2.36,0.00,18.29,5.22:0.00,0.00,0.00,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.00,0.00:60,60,60,60:32.0,18.8,18.3,103.5:0,0,0,3:0,0,0,0:0,33,69,35:151,117,81,115:0,17,36,15:-,NM_012090.4(MACF1) c.6586-172_6586-171insA:-,NOT_FOUND:-,NOT_FOUND 1 39833675 rs397787452 GT G 14 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GT/0.5833,G/0.4167;DB;DBA=NA;PAF=GT/0.5833,G/0.4167;NP=312;PC=0.003;Gene=MACF1/NM_012090.5/1;CC=c.6586-137delT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:GT,G:19:19:0:6:13,6:345,167:0.00,14.43:0.00,14.43:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:23.0,32.2:0,0:0,0:47,64:103,87:26,14:-,NM_012090.4(MACF1) c.6586-144delT:-,NOT_FOUND:-,NOT_FOUND 1 39833987 . G . . NT END=39835701;NT GT ./. 1 39835540 rs582883 T C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6232,C/0.3768;Gene=MACF1/NM_012090.5/1;CC=c.6753-162T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:C,T:11:11:0:0:5,6:165,178:15.59,0.00:15.59,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:38.6,5.8:0,0:0,0:12,67:137,83:9,12:NM_012090.4(MACF1) c.6753-162T>C,-:0.38,-:NOT_FOUND,- 1 39835859 . G . . NT END=39838150;NT GT ./. 1 39838174 rs80197726 T C 65 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.9425,C/0.05751;PC=1.000;Gene=MACF1/NM_012090.5/1;CC=c.6933T>C;ProtCh=p.S2311=;VC=Silent;DM=MACF1/Spectrin;DM=MACF1/Plectin;DM=MACF1/Plectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:38:0:0:21,26:692,830:65.17,0.00:37.31,0.00:27.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,8.0:0,0:0,0:57,62:93,83:28,36:NM_012090.4(MACF1) c.6933T>C (p.(=)),-:0.04,-:0.059434,- 1 39838269 . G . . NT END=39844132;NT GT ./. 1 39843958 rs663449 G A 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5837,A/0.4163;PC=0.032;Gene=MACF1/NM_012090.5/1;CC=c.7028-175G>A;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Plectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G:15:15:0:0:11,4:359,128:37.37,0.00:37.66,0.00:-0.29,0.00:1.00,0.00:1.00,0.00:0.82,0.00:60,60:49.0,0.0:0,0:0,0:53,54:98,89:30,9:NM_012090.4(MACF1) c.7028-175G>A,-:0.41,-:NOT_FOUND,- 1 39844196 . G . . NT END=39844874;NT GT ./. 1 39844708 rs660293 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2398,C/0.7602;Gene=MACF1/NM_012090.5/1;CC=c.7091-167T>C;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Plectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:C,T:15:15:0:0:6,9:151,269:13.54,0.00:13.54,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:53.7,3.8:0,0:0,0:38,53:106,98:5,31:NM_012090.4(MACF1) c.7091-167T>C,-:0.78,-:NOT_FOUND,- 1 39845117 . G . . NT END=39845915;NT GT ./. 1 39845296 rs79522721 T G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9425,G/0.05751;Gene=MACF1/NM_012090.5/1;CC=c.7332+180T>G;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Plectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:G,T:12:0:0:0:4,8:131,240:11.69,0.00:0.00,0.00:11.69,0.00:0.80,0.00:0.00,0.00:0.80,0.00:60,60:45.8,10.2:0,0:0,0:114,87:34,64:17,16:NM_012090.4(MACF1) c.7332+180T>G,-:0.04,-:NOT_FOUND,- 1 39846046 . G . . NT END=39847624;NT GT ./. 1 39847825 . G . . NT END=39851105;NT GT ./. 1 39851009 rs112451431 C T 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.9425,T/0.05751;PC=0.005;Gene=MACF1/NM_012090.5/1;CC=c.7663-97C>T;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Plectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:48:44:0:0:28,1,19:932,32,620:0.00,1.75,57.29:0.00,-0.23,43.91:0.00,1.97,13.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.7,199.0,40.2:0,0,0:0,0,0:46,130,31:100,21,120:27,0,18:-,NM_012090.4(MACF1) c.7663-97C>T:-,0.05:-,NOT_FOUND 1 39851602 . G . . NT END=39852858;NT GT ./. 1 39854331 . G . . NT END=39875937;NT GT ./. 1 39878815 rs1746842 A G 494 lc VT=SNV;PN=T;NN=T;SST=Single;DP=344;DB;DBA=NA;PAF=A/0.9425,G/0.05751;Gene=MACF1/NM_012090.5/1;CC=c.9631-9231A>G;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.2878A>G;ProtCh=p.I960V;VC=Missense;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:344:278:0:0:181,163:5558,5193:0.00,493.64:0.00,368.07:0.00,125.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,46.0:0,0:0,0:49,52:98,97:33,33:-,NM_015038.1(KIAA0754) c.2878A>G (p.Ile960Val):-,0.04:-,0.05715 1 39878977 rs783821 A G 66 lc VT=SNV;PN=C;NN=C;SST=Single;DP=564;DB;DBA=NA;PAF=NA;Gene=MACF1/NM_012090.5/1;CC=c.9631-9069A>G;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.3040A>G;ProtCh=p.T1014A;VC=Missense;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,C,G,T:564:306:0:0:474,18,69,3:11536,221,1203,42:0.00,1.33,66.06,-0.53:0.00,0.19,3.32,-0.46:0.00,1.15,62.74,-0.07:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,53:28.8,77.5,80.5,58.7:0,0,0,0:0,0,0,0:100,98,64,69:36,42,76,63:23,24,22,2:-,NM_015038.1(KIAA0754) c.3040A>G (p.Thr1014Ala):-,NOT_FOUND:-,NOT_FOUND 1 39879016 . A G 51 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=442;Gene=MACF1/NM_012090.5/1;CC=c.9631-9030A>G;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.3079A>G;ProtCh=p.T1027A;VC=Missense;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,C,G,T:442:118:0:0:357,16,65,4:9065,207,972,48:0.00,2.64,51.19,-0.80:0.00,2.03,-2.36,-0.31:0.00,0.61,53.55,-0.50:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,52,60,60:40.4,75.6,76.4,81.8:1,0,0,0:0,0,0,0:108,71,69,75:31,59,70,51:27,19,20,19:-,NM_015038.1(KIAA0754) c.3079A>G (p.Thr1027Ala):-,NOT_FOUND:-,NOT_FOUND 1 39879211 . A G 19 lc VT=SNV;PN=C;NN=C;SST=Single;DP=156;Gene=MACF1/NM_012090.5/1;CC=c.9631-8835A>G;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.3274A>G;ProtCh=p.T1092A;VC=Missense;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,C,G,T:156:65:0:0:121,9,21,5:3151,121,342,56:0.00,3.26,18.99,-0.01:0.00,-0.54,4.06,-0.73:0.00,3.80,14.93,0.71:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:29,16,54,16:65.4,93.7,112.3,71.0:0,0,0,0:0,0,0,0:20,28,34,64:120,117,103,80:14,21,9,3:-,NM_015038.1(KIAA0754) c.3274A>G (p.Thr1092Ala):-,NOT_FOUND:-,NOT_FOUND 1 39879250 rs783822 A G 56 lc VT=SNV;PN=C;NN=C;SST=Single;DP=339;DB;DBA=NA;PAF=NA;NP=2;Gene=MACF1/NM_012090.5/1;CC=c.9631-8796A>G;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.3313A>G;ProtCh=p.T1105A;VC=Missense;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:339:185:0:0:270,11,49,9:6628,148,902,117:0.00,2.21,55.60,0.72:0.00,-1.22,32.21,-1.53:0.00,3.44,23.39,2.24:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,19,60,54:58.1,99.0,104.8,126.4:0,0,0,0:0,0,0,0:35,47,38,30:89,104,106,114:23,20,14,11:-,NM_015038.1(KIAA0754) c.3313A>G (p.Thr1105Ala):-,NOT_FOUND:-,NOT_FOUND 1 39879366 rs604316 T C 864 lc VT=SNV;PN=C;NN=G;SST=Single;DP=650;DB;DBA=NA;PAF=T/0.6018,C/0.3982;Gene=MACF1/NM_012090.5/1;CC=c.9631-8680T>C;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.3429T>C;ProtCh=p.P1143=;VC=Silent;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:650:247:0:5:1,338,4,307:14,8985,36,8495:-0.21,863.97,-0.57,0.00:-0.07,263.55,-0.15,0.00:-0.13,600.42,-0.42,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:27,60,60,60:128.0,78.9,91.8,47.3:0,0,0,0:0,0,0,0:78,70,37,74:45,67,93,48:0,29,26,34:NM_015038.1(KIAA0754) c.3429T>C (p.(=)),-:0.39,-:0.388982,- 1 39879371 rs2797379 T C 109 lc VT=SNV;PN=T;NN=C;SST=Single;DP=673;DB;DBA=NA;PAF=NA;Gene=MACF1/NM_012090.5/1;CC=c.9631-8675T>C;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.3434T>C;ProtCh=p.F1145S;VC=Missense;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:673:263:0:0:4,99,9,561:54,1809,94,14639:-0.45,109.21,-1.83,0.00:-0.43,31.01,-0.87,0.00:-0.03,78.20,-0.97,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:94.8,96.2,111.9,57.1:0,0,0,5:0,0,0,0:66,70,47,77:82,62,104,56:11,26,16,32:NM_015038.1(KIAA0754) c.3434T>C (p.Phe1145Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 39879379 rs34074681 C G 84 lc VT=SNV;PN=T;NN=C;SST=Single;DP=681;DB;DBA=NA;PAF=C/0.999,G/0.0009984;Gene=MACF1/NM_012090.5/1;CC=c.9631-8667C>G;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.3442C>G;ProtCh=p.P1148A;VC=Missense;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C,G,T:681:269:0:0:4,591,81,5:47,16098,1494,67:-1.15,0.00,83.58,-0.76:-0.34,0.00,29.49,0.28:-0.81,0.00,54.08,-1.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,58:65.8,55.8,97.7,192.8:0,4,0,0:0,0,0,0:69,78,55,57:66,55,70,63:21,32,35,13:-,NM_015038.1(KIAA0754) c.3442C>G (p.Pro1148Ala):-,0.02:-,NOT_FOUND 1 39880222 . T . . NT END=39888045;NT GT ./. 1 39880274 rs783823 A G 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.9425,G/0.05751;Gene=MACF1/NM_012090.5/1;CC=c.9631-7772A>G;VC=Intron;Gene=KIAA0754/NM_015038.1/1;CC=c.*53A>G;VC=3UTR;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:49:12:0:0:30,19:990,611:0.00,55.94:0.00,8.06:0.00,47.89:0.00,1.00:0.00,0.99:0.00,1.00:60,60:3.7,34.9:0,0:0,0:123,90:27,61:19,32:-,NM_015038.1(KIAA0754) c.*53A>G:-,0.04:-,NOT_FOUND 1 39888208 . G . . NT END=39888401;NT GT ./. 1 39888573 . G . . NT END=39889699;NT GT ./. 1 39889677 rs663892 G A 61 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.5984,A/0.4016;Gene=MACF1/NM_012090.5/1;CC=c.9964-23G>A;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:51:49:0:0:22,1,28:652,11,941:60.74,-0.02,0.00:51.11,0.02,0.00:9.63,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:53.7,31.0,3.7:0,0,0:0,0,0:44,128,47:105,21,95:14,0,28:NM_012090.4(MACF1) c.9964-23G>A,-:0.4,-:0.420096,- 1 39889867 . G . . NT END=39893126;NT GT ./. 1 39893093 rs625384 C T 104 nt VT=SNV;PN=T;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.6605,T/0.3395;Gene=MACF1/NM_012090.5/1;CC=c.10131-34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:57:0:1:25,33:837,1057:0.00,104.23:0.00,89.63:0.00,14.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,40.8:0,0:0,0:68,56:82,83:35,34:-,NM_012090.4(MACF1) c.10131-34C>T:-,0.35:-,0.357495 1 39893287 . G . . NT END=39893632;NT GT ./. 1 39893960 . G . . NT END=39894913;NT GT ./. 1 39894811 rs2995513 T C 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.9425,C/0.05751;PC=0.017;Gene=MACF1/NM_012090.5/1;CC=c.10618-103T>C;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:C,T:10:10:0:0:8,2:236,47:25.26,0.00:25.26,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:78.4,5.0:0,0:0,0:72,54:78,96:29,10:NM_012090.4(MACF1) c.10618-103T>C,-:0.04,-:NOT_FOUND,- 1 39894839 rs645061 A G 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.251,G/0.749;Gene=MACF1/NM_012090.5/1;CC=c.10618-75A>G;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,G:13:13:0:0:3,10:100,290:0.00,30.71:0.00,27.82:0.00,2.89:0.00,1.00:0.00,1.00:0.00,0.99:60,60:3.3,59.4:0,0:0,0:72,82:79,68:21,48:-,NM_012090.4(MACF1) c.10618-75A>G:-,0.76:-,NOT_FOUND 1 39894999 . G . . NT END=39895498;NT GT ./. 1 39895281 rs682571 G A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7792,A/0.2208;Gene=MACF1/NM_012090.5/1;CC=c.10703-218G>A;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:12:10:0:0:7,5:226,158:22.40,0.00:16.61,0.00:5.78,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:46.3,0.0:0,0:0,0:85,52:66,98:48,3:NM_012090.4(MACF1) c.10703-218G>A,-:0.2,-:NOT_FOUND,- 1 39895367 rs184254180 A G 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.998,G/0.001997;NP=33;PC=0.049;Gene=MACF1/NM_012090.5/1;CC=c.10703-132A>G;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:31:0:0:18,13:538,423:0.00,39.36:0.00,39.48:0.00,-0.12:0.00,1.00:0.00,1.00:0.00,0.61:60,60:6.8,63.3:0,0:0,0:37,40:113,110:20,21:-,NM_012090.4(MACF1) c.10703-132A>G:-,0.0032:-,NOT_FOUND 1 39895460 rs683135 G A 119 nt VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.5982,A/0.4018;Gene=MACF1/NM_012090.5/1;CC=c.10703-39G>A;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:68:0:0:38,36:1236,1128:119.47,0.00:95.53,0.00:23.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.6,5.9:0,0:0,0:59,57:89,93:34,39:NM_012090.4(MACF1) c.10703-39G>A,-:0.4,-:0.422101,- 1 39895741 . G . . NT END=39896373;NT GT ./. 1 39896581 . G . . NT END=39898206;NT GT ./. 1 39898327 . G . . NT END=39898719;NT GT ./. 1 39898828 . G . . NT END=39900085;NT GT ./. 1 39900076 . G T 7 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;NP=8;Gene=MACF1/NM_012090.5/1;CC=c.11380-10G>T;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,G,T:24:17:0:4:1,17,6:12,449,99:0.14,0.00,7.04:-0.19,0.00,7.85:0.33,0.00,-0.81:0.00,0.00,0.92:0.00,0.00,0.98:0.00,0.00,0.87:60,60,60:115.0,13.3,49.8:0,0,0:0,0,0:4,29,77:146,122,74:0,23,25:-,NM_012090.4(MACF1) c.11380-10G>T:-,NOT_FOUND:-,NOT_FOUND 1 39900305 . G . . NT END=39901229;NT GT ./. 1 39901434 . G . . NT END=39902153;NT GT ./. 1 39902163 . G . . NT END=39903448;NT GT ./. 1 39903681 . G . . NT END=39904945;NT GT ./. 1 39905173 . G . . NT END=39906674;NT GT ./. 1 39906798 . G . . NT END=39906895;NT GT ./. 1 39906998 . G . . NT END=39907623;NT GT ./. 1 39907726 . G . . NT END=39907818;NT GT ./. 1 39907993 . G . . NT END=39908083;NT GT ./. 1 39908240 . G . . NT END=39908385;NT GT ./. 1 39908506 rs587404 G A 119 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.656,A/0.344;PC=1.000;Gene=MACF1/NM_012090.5/1;CC=c.13048G>A;ProtCh=p.A4350T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:95:59:0:0:41,53,1:1278,1786,12:119.34,0.00,-0.08:63.19,0.00,-0.11:56.16,0.00,0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.7,6.9,63.0:0,0,0:0,0,0:100,69,11:51,75,140:36,49,0:NM_012090.4(MACF1) c.13048G>A (p.Ala4350Thr),-:0.35,-:0.361833,- 1 39908584 . G . . NT END=39909117;NT GT ./. 1 39908726 rs588326 A G 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.594,G/0.406;Gene=MACF1/NM_012090.5/1;CC=c.13125+143A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:10,13:327,404:0.00,39.74:0.00,0.00:0.00,39.74:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.5,52.4:0,0:0,0:107,82:44,69:15,26:-,NM_012090.4(MACF1) c.13125+143A>G:-,0.4:-,NOT_FOUND 1 39909247 . G . . NT END=39910333;NT GT ./. 1 39910508 . G . . NT END=39913103;NT GT ./. 1 39910684 rs617577 T C 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.767,C/0.233;PC=0.010;Gene=MACF1/NM_012090.5/1;CC=c.13428+177T>C;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:C,T:17:0:0:0:12,5:402,157:41.45,0.00:0.00,0.00:41.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.4,38.6:0,0:0,0:103,106:48,44:34,3:NM_012090.4(MACF1) c.13428+177T>C,-:0.21,-:NOT_FOUND,- 1 39910704 rs114124548 C A 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.996,A/0.003994;NP=3;PC=0.010;Gene=MACF1/NM_012090.5/1;CC=c.13428+197C>A;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,C:14:0:0:0:5,9:159,298:14.32,0.00:0.00,0.00:14.32,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:38.6,41.6:0,0:0,0:126,108:24,43:3,22:NM_012090.4(MACF1) c.13428+197C>A,-:0.01,-:NOT_FOUND,- 1 39913260 . G . . NT END=39913363;NT GT ./. 1 39913571 . G . . NT END=39913704;NT GT ./. 1 39913643 rs783837 C G 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.9425,G/0.05751,T/.;Gene=MACF1/NM_012090.5/1;CC=c.13792-62C>G;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:76:34:0:0:43,33:1456,1050:0.00,98.11:0.00,32.90:0.00,65.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,43.6:0,0:0,0:65,72:85,74:47,48:-,NM_012090.4(MACF1) c.13792-62C>G:-,0.04:-,NOT_FOUND 1 39913825 . G . . NT END=39914265;NT GT ./. 1 39914363 rs668556 G C 138 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.478,C/0.522;PC=0.866;Gene=MACF1/NM_012090.5/1;CC=c.14009G>C;ProtCh=p.S4670T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:73:45:0:0:42,31:1396,996:137.99,0.00:61.16,0.00:76.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,4.8:0,0:0,0:71,77:75,74:34,26:NM_012090.4(MACF1) c.14009G>C (p.Ser4670Thr),-:0.54,-:0.644779,- 1 39914436 . G . . NT END=39916723;NT GT ./. 1 39916435 rs1180377 C G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6496,G/0.3504;PC=0.063;Gene=MACF1/NM_012090.5/1;CC=c.14082-289C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,G:6:6:0:0:3,3:88,97:0.00,9.33:0.00,7.49:0.00,1.84:0.00,0.73:0.00,0.73:0.00,0.67:60,60:23.7,36.7:0,0:0,0:99,43:52,108:16,34:-,NM_012090.4(MACF1) c.14082-289C>G:-,0.35:-,NOT_FOUND 1 39916884 . G . . NT END=39917827;NT GT ./. 1 39917888 rs1746838 C A 235 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.9425,A/0.05751,G/.,T/.;PC=0.996;Gene=MACF1/NM_012090.5/1;CC=c.14302C>A;ProtCh=p.R4768=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:145:118:0:0:73,72:2437,2171:234.90,0.00:158.18,0.00:76.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,10.1:0,0:0,0:63,53:87,96:28,30:NM_012090.4(MACF1) c.14302C>A (p.(=)),-:0.04,-:0.059127,- 1 39918023 . G . . NT END=39918355;NT GT ./. 1 39918485 . G . . NT END=39919378;NT GT ./. 1 39919234 rs687848 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5302,G/0.4698;PC=0.159;Gene=MACF1/NM_012090.5/1;CC=c.14566-145A>G;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,G:16:16:0:0:11,5:374,118:0.00,9.86:0.00,9.86:0.00,0.00:0.00,0.88:0.00,0.88:0.00,0.00:60,60:4.0,26.0:0,0:0,0:102,92:48,58:22,55:-,NM_012090.4(MACF1) c.14566-145A>G:-,0.5:-,NOT_FOUND 1 39919523 . G . . NT END=39920580;NT GT ./. 1 39920770 . G . . NT END=39924041;NT GT ./. 1 39923894 rs145179040 T A 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.9824,A/0.01757;PC=0.001;Gene=MACF1/NM_012090.5/1;CC=c.14899-148T>A;VC=Intron;DM=MACF1/Spectrin;DM=MACF1/Spectrin;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:16:0:0:7,9:201,275:18.66,0.00:18.66,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:28.7,0.0:0,0:0,0:73,19:76,132:7,18:NM_012090.4(MACF1) c.14899-148T>A,-:0.01,-:NOT_FOUND,- 1 39924163 . G . . NT END=39924757;NT GT ./. 1 39924922 . G . . NT END=39925492;NT GT ./. 1 39925505 . G . . NT END=39926303;NT GT ./. 1 39926467 . G . . NT END=39927554;NT GT ./. 1 39927463 . CA C 20 idl,rn VT=DEL;SST=Single;DP=32;Gene=MACF1/NM_012090.5/1;CC=c.15347-65delA;VC=Intron;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:CA,G,I,C:26:32:2:14:16,1,2,7:531,11,64,411:0.00,0.09,4.50,19.71:0.00,0.09,4.50,19.71:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.00:60,60,60,60:36.8,163.0,44.5,113.1:0,1,0,6:0,0,0,0:52,114,24,48:98,26,126,102:39,0,17,28:-,NM_012090.4(MACF1) c.15347-91delA:-,NOT_FOUND:-,NOT_FOUND 1 39927507 rs783820 G A 81 nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.05791,A/0.9421;PC=0.001;Gene=MACF1/NM_012090.5/1;CC=c.15347-48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:54:0:0:28,31:849,920:80.58,0.00:66.96,0.00:13.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.1,15.5:0,0:0,0:48,18:95,132:25,11:NM_012090.4(MACF1) c.15347-48G>A,-:0.96,-:0.94095,- 1 39927710 . G . . NT END=39929283;NT GT ./. 1 39928984 rs7540050 C A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3976,A/0.6024;Gene=MACF1/NM_012090.5/1;CC=c.15502-300C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C:6:6:0:0:3,3:100,103:9.62,0.00:7.89,0.00:1.74,0.00:0.73,0.00:0.73,0.00:0.67,0.00:60,60:43.7,29.7:0,0:0,0:103,132:48,18:9,11:NM_012090.4(MACF1) c.15502-300C>A,-:0.6,-:NOT_FOUND,- 1 39929162 rs58454766 C CA 11 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=MACF1/NM_012090.5/1;CC=c.15502-107_15502-106insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,CA,D:15:16:4:3:9,4,2:308,128,99:0.00,11.18,5.13:0.00,11.18,5.13:0.00,0.00,0.00:0.00,0.75,0.00:0.00,0.75,0.00:0.00,0.00,0.00:60,60,60:38.0,17.5,42.0:0,0,1:0,0,0:51,33,76:100,118,75:25,25,20:-,NM_012090.4(MACF1) c.15502-122_15502-121insA:-,NOT_FOUND:-,NOT_FOUND 1 39929240 rs7554206 T C 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.3277,C/0.6723;PC=0.025;Gene=MACF1/NM_012090.5/1;CC=c.15502-44T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:56:48:0:0:1,24,31:8,777,1016:-0.14,72.77,0.00:-0.18,51.57,0.00:0.04,21.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:76.0,37.6,3.8:0,0,0:0,0,0:53,50,34:98,99,110:0,28,14:NM_012090.4(MACF1) c.15502-44T>C,-:0.66,-:0.647086,- 1 39929359 . G . . NT END=39930766;NT GT ./. 1 39930581 rs5773660 CA C 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=104;PC=0.015;Gene=MACF1/NM_012090.5/1;CC=c.15576+1240delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:4:0:4:3:127:10.56:10.56:0.00:0.85:0.85:0.00:60:14.0:1:0:29:122:22:NM_012090.4(MACF1) c.15576+1224delA,NM_012090.4(MACF1) c.15576+1224delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 39930785 . G . . NT END=39934286;NT GT ./. 1 39934405 . G . . NT END=39935218;NT GT ./. 1 39935288 . G . . NT END=39945469;NT GT ./. 1 39945297 rs2275767 C T 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4423,T/0.5577;Gene=MACF1/NM_012090.5/1;CC=c.15695-173C>T;VC=Intron;DM=MACF1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:C,T:15:14:0:0:6,9:180,282:0.00,28.13:0.00,28.52:0.00,-0.40:0.00,1.00:0.00,1.00:0.00,0.73:60,60:6.7,45.9:0,0:0,0:84,47:65,104:35,31:-,NM_012090.4(MACF1) c.15695-173C>T:-,0.53:-,NOT_FOUND 1 39945682 . G . . NT END=39946591;NT GT ./. 1 39946703 . G . . NT END=39950272;NT GT ./. 1 39950403 . G . . NT END=39951209;NT GT ./. 1 39951467 . C . . NT END=39957663;NT GT ./. 1 39957301 rs7555699 G A 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4473,A/0.5527 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:10:9:0:0:3,7:87,204:7.48,0.00:3.92,0.00:3.55,0.00:0.62,0.00:0.94,0.00:0.53,0.00:60,60:69.3,15.4:0,0:0,0:57,5:93,144:32,5:NM_181809.3(BMP8A) c.-346-u17G>A,-:0.54,-:NOT_FOUND,- 1 39957669 rs148153508 C G 207 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=C/0.8796,G/0.1204;PC=0.012;Gene=BMP8A/NM_181809.3/1;CC=c.6C>G;ProtCh=p.A2=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:157:116:0:0:84,73:2611,2194:0.00,206.82:0.00,98.21:0.00,108.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,41.6:0,0:0,0:61,56:88,93:32,33:-,NM_181809.3(BMP8A) c.6C>G (p.(=)):-,0.14:-,NOT_FOUND 1 39957913 rs4660269 A G 327 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=186;DB;DBA=NA;PAF=A/0.3277,G/0.6723,T/.;PC=1.000;Gene=BMP8A/NM_181809.3/1;CC=c.250A>G;ProtCh=p.M84V;VC=Missense;DM=BMP8A/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:186:117:0:0:79,3,104:2500,33,3321:0.00,0.03,327.25:0.00,0.05,161.15:0.00,-0.03,166.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.4,44.3,38.5:0,0,0:0,0,0:80,103,57:69,46,92:37,4,36:-,NM_181809.3(BMP8A) c.250A>G (p.Met84Val):-,0.68:-,0.790334 1 39957998 . G . . NT END=39976845;NT GT ./. 1 39958080 rs10888798 C G 186 nt VT=SNV;PN=C;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.4479,G/0.5521;PC=0.008;Gene=BMP8A/NM_181809.3/1;CC=c.334+83C>G;VC=Intron;DM=BMP8A/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:118:52:0:0:1,56,60,1:34,1863,1924,11:1.59,0.00,186.07,-0.09:-0.06,0.00,35.05,-0.06:1.65,0.00,151.02,-0.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:50,60,60,43:34.0,11.5,39.7,152.0:0,0,0,0:0,0,0,0:75,86,102,7:76,58,44,144:0,31,26,0:-,NM_181809.3(BMP8A) c.334+83C>G:-,0.52:-,NOT_FOUND 1 39977036 . G . . NT END=39977427;NT GT ./. 1 39977258 . A C 264 nt VT=SNV;PN=G;NN=C;SST=Single;DP=93;NP=218;PC=0.003;Gene=BMP8A/NM_181809.3/1;CC=c.525-170A>C;VC=Intron;DM=BMP8A/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:93:84:0:0:18,75:556,2485:0.00,264.48:0.00,254.44:0.00,10.04:0.00,1.00:0.00,1.00:0.00,1.00:42,43:5.6,47.1:0,0:0,0:46,38:104,113:14,25:-,NM_181809.3(BMP8A) c.525-170A>C:-,NOT_FOUND:-,NOT_FOUND 1 39977575 rs200415763 C T 204 lc VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=1393;Gene=BMP8A/NM_181809.3/1;CC=c.672C>T;ProtCh=p.D224=;VC=Silent;DM=BMP8A/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:0:0:0:16,60:485,1922:0.00,203.76:0.00,0.00:0.00,203.76:0.00,1.00:0.00,0.00:0.00,1.00:27,27:10.6,41.2:0,0:0,0:109,107:41,44:20,21:-,NM_181809.3(BMP8A) c.672C>T (p.(=)):-,0.68:-,NOT_FOUND 1 39977577 . G . . NT END=39987047;NT GT ./. 1 39978428 . T A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;NP=76;PC=0.001;Gene=BMP8A/NM_181809.3/1;CC=c.673+852T>A;VC=Intron;DM=BMP8A/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,T:10:1:0:0:3,7:101,209:8.88,0.00:3.35,0.00:5.53,0.00:0.62,0.00:0.53,0.00:0.94,0.00:27,27:49.7,5.6:0,0:0,0:20,92:131,59:17,14:NM_181809.3(BMP8A) c.673+852T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 39987243 . G . . NT END=39988074;NT GT ./. 1 39987897 rs910005 T C 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4549,C/0.5451;NP=155;Gene=BMP8A/NM_181809.3/1;CC=c.869-178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:32:0:0:12,20:401,593:36.64,0.00:36.64,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:43,56:40.9,25.2:0,0:0,0:73,67:77,83:23,18:NM_181809.3(BMP8A) c.869-178T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 39987899 rs710910 G A 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8512,A/0.1488;PC=0.029;Gene=BMP8A/NM_181809.3/1;CC=c.869-176G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:32:0:0:10,22:263,740:22.41,0.00:22.41,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:56,55:27.9,32.5:0,0:0,0:69,71:81,79:22,21:NM_181809.3(BMP8A) c.869-176G>A,-:0.13,-:NOT_FOUND,- 1 39988034 rs15733 C T 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=1191;Gene=BMP8A/NM_181809.3/1;CC=c.869-41C>T;VC=Intron;Gene=PPIEL/NR_003929.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:116:104:0:0:98,18:3309,531:0.00,39.96:0.00,36.66:0.00,3.31:0.00,1.00:0.00,1.00:0.00,1.00:60,41:12.0,65.3:0,0:0,0:44,14:104,136:23,9:-,NR_003929.2(PPIEL) n.2555G>A:-,0.33:-,NOT_FOUND 1 39988084 rs6525 G A 95 lc VT=SNV;PN=C;NN=C;SST=Single;DP=189;DB;DBA=NA;PAF=NA;NP=1475;PC=0.004;Gene=BMP8A/NM_181809.3/1;CC=c.878G>A;ProtCh=p.R293H;VC=Missense;Gene=PPIEL/NR_003929.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:189:159:0:0:38,151:1180,4774:95.03,0.00:62.53,0.00:32.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:50.7,19.5:0,0:0,0:39,50:107,97:17,29:NM_181809.3(BMP8A) c.878G>A (p.Arg293His),-:0.33,-:NOT_FOUND,- 1 39988145 rs6524 T C 204 lc VT=SNV;PN=T;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=NA;Gene=BMP8A/NM_181809.3/1;CC=c.939T>C;ProtCh=p.L313=;VC=Silent;Gene=PPIEL/NR_003929.2/0;VC=NonCoding;DM=BMP8A/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:179:122:0:0:71,108:2228,3548:204.38,0.00:81.71,0.00:122.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:38.2,22.5:0,0:0,0:100,75:49,71:25,24:NM_181809.3(BMP8A) c.939T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 39988155 . G . . NT END=39988678;NT GT ./. 1 39988231 rs150437571 A G 116 nt VT=SNV;PN=T;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.9671,G/0.03295;Gene=BMP8A/NM_181809.3/1;CC=c.948+77A>G;VC=Intron;Gene=PPIEL/NR_003929.2/0;VC=NonCoding;DM=BMP8A/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:97:12:0:0:56,1,40:1872,17,1249:0.00,0.15,115.65:0.00,-0.02,7.71:0.00,0.17,107.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,60:17.5,132.0,37.2:0,0,0:0,0,0:105,40,103:41,104,40:28,0,37:-,NM_181809.3(BMP8A) c.948+77A>G:-,0.03:-,NOT_FOUND 1 39988318 rs397707995 T TTTG 13 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.5144,TTTG/0.4856;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=393;Gene=BMP8A/NM_181809.3/1;CC=c.948+178_948+180dupTGT;VC=Intron;Gene=PPIEL/NR_003929.2/0;VC=NonCoding;DM=BMP8A/TGF_beta;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:T,TTTG:32:1:5:0:27,5:824,168:0.00,13.17:0.00,-0.07:0.00,13.24:0.00,0.79:0.00,0.44:0.00,0.98:60,60:25.0,0.0:0,0:0,0:111,59:40,91:22,30:-,NM_181809.3(BMP8A) c.948+164_948+165insTTG:-,0.44:-,NOT_FOUND 1 39988471 rs2473617 G A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5104,A/0.4896;PC=0.001;Gene=BMP8A/NM_181809.3/1;CC=c.949-208G>A;VC=Intron;Gene=PPIEL/NR_003929.2/0;VC=NonCoding;DM=BMP8A/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:18:11:0:0:5,13:113,393:9.06,0.00:5.43,0.00:3.63,0.00:0.87,0.00:0.95,0.00:0.87,0.00:60,60:29.0,63.8:0,0:0,0:63,87:88,64:26,45:NM_181809.3(BMP8A) c.949-208G>A,-:0.44,-:NOT_FOUND,- 1 39988790 . G . . NT END=39991320;NT GT ./. 1 39989186 rs710911 T C 133 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.03395,C/0.9661;Gene=BMP8A/NM_181809.3/1;CC=c.1059+397T>C;VC=Intron;Gene=PPIEL/NR_003929.2/0;VC=NonCoding;DM=BMP8A/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:34:0:0:37:1153:132.89:91.95:40.95:1.00:1.00:1.00:60:45.7:0:0:49:102:33:NM_181809.3(BMP8A) c.1059+397T>C,NM_181809.3(BMP8A) c.1059+397T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 39989327 rs1727098 C T 90 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.483,T/0.517;Gene=BMP8A/NM_181809.3/1;CC=c.1059+538C>T;VC=Intron;Gene=PPIEL/NR_003929.2/0;VC=NonCoding;DM=BMP8A/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:39:0:0:25,29:857,924:0.00,90.04:0.00,52.55:0.00,37.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,40.1:0,0:0,0:57,49:92,90:34,37:-,NM_181809.3(BMP8A) c.1059+538C>T:-,0.47:-,NOT_FOUND 1 39991471 . G . . NT END=40027369;NT GT ./. 1 40027460 . C . . NT END=40027744;NT GT ./. 1 40027876 . C . . NT END=40027994;NT GT ./. 1 40028089 . C . . NT END=40029285;NT GT ./. 1 40029414 . C . . NT END=40029507;NT GT ./. 1 40029595 . C . . NT END=40030094;NT GT ./. 1 40030215 . C . . NT END=40030357;NT GT ./. 1 40030446 . C . . NT END=40030777;NT GT ./. 1 40031051 . C . . NT END=40033422;NT GT ./. 1 40033519 . C . . NT END=40034473;NT GT ./. 1 40034612 . C . . NT END=40035266;NT GT ./. 1 40035362 . C . . NT END=40035534;NT GT ./. 1 40035675 . C . . NT END=40036768;NT GT ./. 1 40037022 . C . . NT END=40038064;NT GT ./. 1 40037902 rs2242500 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.735,G/0.265;PC=0.406;Gene=PABPC4/NM_001135653.1/0;CC=c.387+163T>C;VC=Intron;Gene=PABPC4/NM_001135654.1/0;CC=c.387+163T>C;VC=Intron;Gene=PABPC4/NM_003819.3/1;CC=c.387+163T>C;VC=Intron;Gene=LOC101929516/NR_125979.1/0;VC=NonCoding;DM=PABPC4/PABP;DM=PABPC4/RRM_1;DM=PABPC4/RRM_1;DM=PABPC4/RRM_1;DM=PABPC4/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:9:9:0:0:3,6:96,209:0.00,21.27:0.00,21.27:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,36.8:0,0:0,0:11,50:140,100:6,31:-,NM_001135653.1(PABPC4) c.387+163T>C:-,0.33:-,NOT_FOUND 1 40038259 . C . . NT END=40041430;NT GT ./. 1 40041625 . T . . NT END=40092178;NT GT ./. 1 40041714 rs11557732 G A 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9623,A/0.03774;Gene=PABPC4/NM_001135653.1/0;CC=c.-91C>T;VC=5UTR;Gene=PABPC4/NM_001135654.1/0;CC=c.-91C>T;VC=5UTR;Gene=PABPC4/NM_003819.3/1;CC=c.-91C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:9:0:0:19,17:568,545:55.02,0.00:4.05,0.00:50.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.2,16.6:0,0:0,0:89,112:61,39:27,24:NM_001135653.1(PABPC4) c.-91C>T,-:0.04,-:NOT_FOUND,- 1 40092089 rs2695320 T C 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=HEYL/NM_014571.3/1;CC=c.*90A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:30:29:0:0:17,1,12:566,10,343:56.19,0.10,0.00:52.84,0.10,0.00:3.35,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.84,0.00,0.00:60,60,60:40.7,87.0,13.3:0,0,0:0,0,0:37,41,42:114,103,108:25,0,20:NM_014571.3(HEYL) c.*90A>G,-:0.99,-:NOT_FOUND,- 1 40092853 . C . . NT END=40095898;NT GT ./. 1 40095981 . C . . NT END=40097167;NT GT ./. 1 40096053 rs1148945 T C 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6076,C/0.3924;Gene=HEYL/NM_014571.3/1;CC=c.232-73A>G;VC=Intron;DM=HEYL/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:15:0:0:15,18:469,554:44.20,0.00:15.93,0.00:28.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,5.4:0,0:0,0:118,113:33,36:15,21:NM_014571.3(HEYL) c.232-73A>G,-:0.36,-:NOT_FOUND,- 1 40097252 . C . . NT END=40098320;NT GT ./. 1 40098328 rs784625 T C 288 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.01078,C/0.9892;PC=1.000;Gene=HEYL/NM_014571.3/1;CC=c.140A>G;ProtCh=p.H47R;VC=Missense;DM=HEYL/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:56:0:0:75:2525:288.26:175.17:113.09:1.00:1.00:1.00:60:40.7:0:0:63:86:29:NM_014571.3(HEYL) c.=,NM_014571.3(HEYL) c.=:0.99,0.99:0.992542,0.992542 1 40098388 . C . . NT END=40098583;NT GT ./. 1 40098769 . G . . NT END=40105217;NT GT ./. 1 40105298 . G . . NT END=40124792;NT GT ./. 1 40125159 . C . . NT END=40126750;NT GT ./. 1 40125325 rs17264901 G T 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.9391,T/0.0609;Gene=NT5C1A/NM_032526.2/1;CC=c.742-167C>A;VC=Intron;DM=NT5C1A/5-nucleotidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:0:0:0:15,15:429,474:0.00,45.53:0.00,0.00:0.00,45.53:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.3,46.2:0,0:0,0:123,99:28,50:15,33:-,NM_032526.1(NT5C1A) c.742-167C>A:-,0.08:-,NOT_FOUND 1 40126936 . C . . NT END=40128983;NT GT ./. 1 40129066 rs4660340 G A 99 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9591,A/0.04093,C/.;PC=1.000;Gene=NT5C1A/NM_032526.2/1;CC=c.474C>T;ProtCh=p.S158=;VC=Silent;DM=NT5C1A/5-nucleotidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:70:44:0:0:33,1,36:1043,12,1209:99.27,-0.01,0.00:54.84,-0.09,0.00:44.43,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:33.8,108.0,8.1:0,0,0:0,0,0:75,15,65:76,136,83:53,0,32:NM_032526.1(NT5C1A) c.474C>T (p.(=)),-:0.05,-:0.031063,- 1 40129107 . C . . NT END=40131192;NT GT ./. 1 40131323 . C . . NT END=40131740;NT GT ./. 1 40131909 . C . . NT END=40137575;NT GT ./. 1 40137711 . G . . NT END=40148207;NT GT ./. 1 40137754 rs2871601 G A 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.7442,A/0.2558;PC=0.762 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:19:0:0:19,29:581,965:53.13,0.00:16.96,0.00:36.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,11.6:0,0:0,0:105,96:33,54:24,32:NM_032526.1(NT5C1A) c.1-u44C>T,-:0.26,-:0.1837,- 1 40148406 . C . . NT END=40149608;NT GT ./. 1 40149515 rs784633 A G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.1438,G/0.8562;Gene=HPCAL4/NM_001282396.1/1;CC=c.378+94T>C;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.162+599T>C;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.378+94T>C;VC=Intron;DM=HPCAL4/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:28:0:0:15,13:506,390:0.00,36.80:0.00,36.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.6,47.8:0,0:0,0:55,30:96,121:37,19:-,NM_016257.2(HPCAL4) c.378+94T>C:-,0.84:-,NOT_FOUND 1 40149642 rs784634 G T 125 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.1438,T/0.8562;PC=1.000;Gene=HPCAL4/NM_001282396.1/1;CC=c.345C>A;ProtCh=p.R115=;VC=Silent;Gene=HPCAL4/NM_001282397.1/0;CC=c.162+472C>A;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.345C>A;ProtCh=p.R115=;VC=Silent;DM=HPCAL4/EF-hand_7;DM=HPCAL4/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:92:75:0:0:52,40:1806,1331:0.00,124.83:0.00,76.21:0.00,48.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,39.9:0,0:0,0:64,47:73,100:33,29:-,NM_016257.2(HPCAL4) c.345C>A (p.(=)):-,0.84:-,0.829975 1 40149825 . C . . NT END=40150113;NT GT ./. 1 40149870 rs113763288 C G 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.1436,G/0.8564;Gene=HPCAL4/NM_001282396.1/1;CC=c.163-46G>C;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.162+244G>C;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.163-46G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:43:13:0:0:21,22:610,701:0.00,67.65:0.00,13.05:0.00,54.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.0,87.5:0,0:0,0:112,92:28,59:21,27:-,NM_016257.2(HPCAL4) c.163-46G>C:-,0.84:-,0.854137 1 40149875 rs113459798 C T 55 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.644,T/0.356;PC=0.001;Gene=HPCAL4/NM_001282396.1/1;CC=c.163-51G>A;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.162+239G>A;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.163-51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:41:11:0:0:21,1,19:637,9,582:0.00,-0.05,55.21:0.00,0.14,9.50:0.00,-0.20,45.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:40.7,134.0,86.5:0,0,0:0,0,0:109,63,99:38,61,52:26,0,25:-,NM_016257.2(HPCAL4) c.163-51G>A:-,0.34:-,0.434319 1 40149938 rs143189498 T C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HPCAL4/NM_001282396.1/1;CC=c.163-114A>G;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.162+176A>G;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.163-114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:16:6:0:0:5,11:112,274:9.24,0.00:-0.97,0.00:10.21,0.00:0.88,0.00:0.87,0.00:0.96,0.00:60,60:105.6,79.8:3,0:0,0:126,71:21,55:21,31:NM_016257.2(HPCAL4) c.163-114A>G,-:0.4,-:NOT_FOUND,- 1 40149945 rs192282657 G C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=HPCAL4/NM_001282396.1/1;CC=c.163-121C>G;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.162+169C>G;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.163-121C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:C,G:16:8:0:0:3,13:94,340:7.50,0.00:-0.70,0.00:8.20,0.00:0.54,0.00:0.77,0.00:0.77,0.00:60,60:134.3,74.0:3,0:0,0:126,75:16,59:8,35:NM_016257.2(HPCAL4) c.163-121C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 40149970 rs116713699 C T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=HPCAL4/NM_001282396.1/1;CC=c.162+144G>A;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.162+144G>A;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.162+144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:13:0:0:9,9:277,261:0.00,24.95:0.00,18.70:0.00,6.25:0.00,1.00:0.00,1.00:0.00,0.96:60,60:35.6,98.1:0,0:0,0:40,78:93,65:34,50:-,NM_016257.2(HPCAL4) c.162+144G>A:-,0.08:-,NOT_FOUND 1 40150156 rs9662128 G A 140 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.6442,A/0.3558;PC=0.023;Gene=HPCAL4/NM_001282396.1/1;CC=c.120C>T;ProtCh=p.S40=;VC=Silent;Gene=HPCAL4/NM_001282397.1/0;CC=c.120C>T;ProtCh=p.S40=;VC=Silent;Gene=HPCAL4/NM_016257.3/0;CC=c.120C>T;ProtCh=p.S40=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:98:75:0:0:46,51,1:1467,1665,11:139.55,0.00,-0.10:75.29,0.00,0.01:64.26,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.3,4.7,185.0:0,0,0:0,0,0:53,54,110:97,97,40:31,26,0:NM_016257.2(HPCAL4) c.120C>T (p.(=)),-:0.33,-:0.374673,- 1 40150276 . G . . NT END=40204572;NT GT ./. 1 40150370 rs2746058 C T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.144,T/0.856;Gene=HPCAL4/NM_001282396.1/1;CC=c.-8-87G>A;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.-8-87G>A;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.-8-87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:7:0:0:17,14:492,454:0.00,42.84:0.00,2.49:0.00,40.35:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.9,49.3:0,0:0,0:113,109:37,41:29,25:-,NM_016257.2(HPCAL4) c.-8-87G>A:-,0.84:-,NOT_FOUND 1 40150523 rs2746059 G T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1438,T/0.8562;Gene=HPCAL4/NM_001282396.1/1;CC=c.-8-240C>A;VC=Intron;Gene=HPCAL4/NM_001282397.1/0;CC=c.-8-240C>A;VC=Intron;Gene=HPCAL4/NM_016257.3/0;CC=c.-8-240C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:G,T:6:0:0:0:3,3:106,102:0.00,9.82:0.00,0.00:0.00,9.82:0.00,0.73:0.00,0.00:0.00,0.73:60,60:3.3,42.0:0,0:0,0:110,114:41,36:20,28:-,NM_016257.2(HPCAL4) c.-8-240C>A:-,0.84:-,NOT_FOUND 1 40203722 rs12074147 T C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6981,C/0.3019;PC=0.065 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:1:0:0:3,1:91,34:9.55,0.00:-0.30,0.00:9.85,0.00:0.85,0.00:0.83,0.00:0.85,0.00:60,9:51.7,0.0:0,0:0,0:96,87:42,52:26,0:NM_001195007.1(PPIE) c.-56-u795T>C,-:0.31,-:NOT_FOUND,- 1 40204424 rs7548120 A T 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.7119,T/0.2881 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:37:37:0:0:20,17:634,519:0.00,48.90:0.00,47.23:0.00,1.67:0.00,1.00:0.00,1.00:0.00,0.64:60,60:5.5,42.6:0,0:0,0:57,26:94,125:30,21:-,NM_001195007.1(PPIE) c.-56-u93A>T:-,0.3:-,NOT_FOUND 1 40204604 . G . . NT END=40205836;NT GT ./. 1 40204823 rs3738673 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7117,T/0.2883;Gene=PPIE/NM_006112.3/0;CC=c.31+220C>T;VC=Intron;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.31+220C>T;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.31+220C>T;VC=Intron;DM=PPIE/RRM_1;DM=PPIE/RRM_1;DM=PPIE/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:12:0:0:0:7,5:236,161:0.00,14.95:0.00,0.00:0.00,14.95:0.00,0.92:0.00,0.00:0.00,0.92:60,60:11.0,32.2:0,0:0,0:116,111:33,40:34,12:-,NM_001195007.1(PPIE) c.31+220C>T:-,0.3:-,NOT_FOUND 1 40205936 . G . . NT END=40207037;NT GT ./. 1 40207082 . G . . NT END=40207566;NT GT ./. 1 40207169 rs497333 T G 92 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4267,G/0.5733;PC=0.001;Gene=PPIE/NM_006112.3/0;CC=c.174+88T>G;VC=Intron;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.174+88T>G;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.174+88T>G;VC=Intron;DM=PPIE/RRM_1;DM=PPIE/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A,G:26:4:0:0:1,25:9,801:0.24,91.57:0.00,8.70:0.24,82.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:113.0,37.8:0,0:0,0:45,94:105,57:0,26:NM_001195007.1(PPIE) c.174+88T>G,NM_001195007.1(PPIE) c.174+88T>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 40207594 . G . . NT END=40208887;NT GT ./. 1 40208970 . G . . NT END=40209495;NT GT ./. 1 40209597 . G . . NT END=40211046;NT GT ./. 1 40211171 . G . . NT END=40214574;NT GT ./. 1 40214525 rs7520588 T A 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.7075,A/0.2925;PC=0.002;Gene=PPIE/NM_006112.3/0;CC=c.509-50T>A;VC=Intron;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.509-50T>A;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.509-50T>A;VC=Intron;DM=PPIE/Pro_isomerase;DM=PPIE/Pro_isomerase;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:41:39:0:0:24,17:714,500:70.72,0.00:58.07,0.00:12.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,2.5:0,0:0,0:48,57:101,93:39,25:NM_001195007.1(PPIE) c.509-50T>A,-:0.3,-:0.293992,- 1 40214761 . G . . NT END=40218581;NT GT ./. 1 40214944 rs7518431 A G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7045,G/0.2955;Gene=PPIE/NM_006112.3/0;CC=c.694+184A>G;VC=Intron;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.694+184A>G;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.694+184A>G;VC=Intron;DM=PPIE/Pro_isomerase;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:11:0:0:0:6,5:191,166:0.00,15.69:0.00,0.00:0.00,15.69:0.00,0.93:0.00,0.00:0.00,0.93:60,60:6.8,54.8:0,0:0,0:99,127:51,24:18,8:-,NM_001195007.1(PPIE) c.694+184A>G:-,0.31:-,NOT_FOUND 1 40218725 . G . . NT END=40218958;NT GT ./. 1 40219065 rs1046988 C T 212 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.7185,G/.,T/0.2815;Gene=PPIE/NM_006112.3/0;CC=c.*38C>T;VC=3UTR;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.837+341C>T;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.837+341C>T;VC=Intron;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:75:0:0:42,64:1403,2121:0.00,211.66:0.00,111.34:0.00,100.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,44.2:0,0:0,0:60,69:84,72:35,28:-,NM_001195007.1(PPIE) c.837+341C>T:-,0.29:-,0.307704 1 40219280 rs14528 T C 410 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.5917,C/0.4083;Gene=PPIE/NM_006112.3/0;CC=c.*253T>C;VC=3UTR;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.837+556T>C;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.837+556T>C;VC=Intron;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:116:71:0:0:116:3550:409.92:201.82:208.10:1.00:1.00:1.00:60:38.5:0:0:85:62:35:NM_001195007.1(PPIE) c.837+556T>C,NM_001195007.1(PPIE) c.837+556T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 1 40219784 . c . . NT END=40220671;NT GT ./. 1 40220493 rs1073885 G T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9643,T/0.03574;PC=0.110;Gene=PPIE/NM_006112.3/0;CC=c.*1466G>T;VC=3UTR;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.837+1769G>T;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.837+1769G>T;VC=Intron;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:G,T:10:10:0:0:5,5:173,156:0.00,14.97:0.00,14.97:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:1.8,33.2:0,0:0,0:38,62:112,88:18,29:-,NM_001195007.1(PPIE) c.837+1769G>T:-,0.05:-,NOT_FOUND 1 40220806 rs7547787 G A 192 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=G/0.7119,A/0.2881;PC=0.001;Gene=PPIE/NM_006112.3/0;CC=c.*1779G>A;VC=3UTR;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.837+2082G>A;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.837+2082G>A;VC=Intron;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:126:80:0:0:60,66:2010,2047:191.77,0.00:71.37,0.00:120.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,6.9:0,0:0,0:100,64:51,76:30,44:NM_001195007.1(PPIE) c.837+2082G>A,-:0.3,-:NOT_FOUND,- 1 40221067 rs2274949 G A 174 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.7119,A/0.2881;Gene=PPIE/NM_006112.3/0;CC=c.*2040G>A;VC=3UTR;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.837+2343G>A;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.837+2343G>A;VC=Intron;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:110:51:0:0:58,51,1:1794,1719,11:174.30,0.00,-0.08:64.76,0.00,0.04:109.54,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.5,6.5,152.0:0,0,0:0,0,0:84,81,90:65,64,61:45,41,0:NM_001195007.1(PPIE) c.837+2343G>A,-:0.3,-:NOT_FOUND,- 1 40221464 rs506333 T C 504 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=139;DB;DBA=NA;PAF=T/0.4441,C/0.5559;Gene=PPIE/NM_006112.3/0;CC=c.*2437T>C;VC=3UTR;Gene=PPIE/NR_036543.1/0;VC=NonCoding;Gene=PPIE/NR_036544.1/0;VC=NonCoding;Gene=PPIE/NM_001195007.1/1;CC=c.837+2740T>C;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.837+2740T>C;VC=Intron;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:139:71:0:0:1,138:7,4386:0.03,503.73:0.03,193.41:0.00,310.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:120.0,38.5:0,0:0,0:105,87:46,58:0,30:NM_001195007.1(PPIE) c.837+2740T>C,NM_001195007.1(PPIE) c.837+2740T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 40222325 . a . . NT END=40226090;NT GT ./. 1 40226046 rs12094291 G A 155 nt VT=SNV;PN=C;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.7121,A/0.2879,C/.;Gene=PPIE/NM_001195007.1/1;CC=c.838-2143G>A;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.838-3315G>A;VC=Intron;Gene=BMP8B/NM_001720.3/1;CC=c.*45C>T;VC=3UTR;DM=PPIE/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:117:94:0:0:55,62:1637,1914:154.66,0.00:108.72,0.00:45.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,8.3:0,0:0,0:51,31:99,112:25,16:NM_001720.3(BMP8B) c.*45C>T,-:0.3,-:0.310549,- 1 40226241 . C . . NT END=40228188;NT GT ./. 1 40228324 . G . . NT END=40228763;NT GT ./. 1 40228667 rs114826687 G A 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.9928,A/0.007188;PC=0.003;Gene=PPIE/NM_001195007.1/1;CC=c.*27+344G>A;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.838-694G>A;VC=Intron;Gene=BMP8B/NM_001720.3/1;CC=c.1059+97C>T;VC=Intron;DM=BMP8B/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:23:0:0:16,10:490,297:49.14,0.00:41.09,0.00:8.05,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:40.3,1.8:0,0:0,0:43,77:106,73:32,21:NM_001720.3(BMP8B) c.1059+97C>T,-:0.01,-:NOT_FOUND,- 1 40228875 . C . . NT END=40229360;NT GT ./. 1 40229297 rs71060328 A AC 67 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.6234,AC/0.3766;NP=1510;Gene=PPIE/NM_001195007.1/1;CC=c.*28-62dupC;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.838-62dupC;VC=Intron;Gene=BMP8B/NM_001720.3/1;CC=c.948+86dupG;VC=Intron;DM=BMP8B/TGF_beta;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,AC:26:25:22:0:4,22:101,612:0.00,66.60:0.00,62.80:0.00,3.80:0.00,1.00:0.00,1.00:0.00,0.90:60,60:59.2,56.0:1,0:0,0:104,53:43,96:34,44:-,NM_001720.3(BMP8B) c.948+86_948+87insG:-,0.42:-,0.437219 1 40229319 rs493473 G A 91 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=PPIE/NM_001195007.1/1;CC=c.*28-42G>A;VC=Intron;Gene=PPIE/NM_203456.2/0;CC=c.838-42G>A;VC=Intron;Gene=BMP8B/NM_001720.3/1;CC=c.948+65C>T;VC=Intron;DM=BMP8B/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:A,G:28:26:0:0:26,2:817,46:91.14,0.00:81.77,0.00:9.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,40:62.2,39.5:0,0:0,0:30,88:120,62:20,15:NM_001720.3(BMP8B) c.948+65C>T,NM_001720.3(BMP8B) c.948+65C>T:0.35,0.35:0.41543,0.41543 1 40229368 rs2463260 A G 212 lc VT=SNV;PN=G;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.6342,G/0.3658;Gene=PPIE/NM_001195007.1/1;CC=c.*35A>G;VC=3UTR;Gene=PPIE/NM_203456.2/0;CC=c.845A>G;ProtCh=p.E282G;VC=Missense;Gene=BMP8B/NM_001720.3/1;CC=c.948+16T>C;VC=Intron;DM=BMP8B/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:53:0:0:58:1848:212.39:155.74:56.65:1.00:1.00:1.00:53:54.7:0:0:30:112:20:NM_001195007.1(PPIE) c.*35A>G,NM_001195007.1(PPIE) c.*35A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 1 40229393 rs77290565 G A 66 lc VT=SNV;PN=C;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=PPIE/NM_001195007.1/1;CC=c.*60G>A;VC=3UTR;Gene=PPIE/NM_203456.2/0;CC=c.870G>A;ProtCh=p.P290=;VC=Silent;Gene=BMP8B/NM_001720.3/1;CC=c.939C>T;ProtCh=p.L313=;VC=Silent;DM=BMP8B/TGF_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:76:0:0:24,63:767,2043:65.90,0.00:51.68,0.00:14.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:47.0,34.4:0,0:0,0:21,35:127,106:11,20:NM_001720.3(BMP8B) c.939C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 40229464 . C . . NT END=40230294;NT GT ./. 1 40229616 rs202005319 T G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=142;Gene=BMP8B/NM_001720.3/1;CC=c.869-153A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:0:0:0:8,11:280,346:26.20,0.00:0.00,0.00:26.20,0.00:0.99,0.00:0.00,0.00:0.99,0.00:40,50:39.2,19.0:0,0:0,0:136,103:15,48:9,41:NM_001720.3(BMP8B) c.869-153A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 40229713 rs114325707 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=BMP8B/NM_001720.3/1;CC=c.869-250T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:162:18.58:0.00:18.58:1.00:0.00:1.00:43:49.0:0:0:102:48:19:NM_001720.3(BMP8B) c.869-250T>C,NM_001720.3(BMP8B) c.869-250T>C:0.31,0.31:NOT_FOUND,NOT_FOUND 1 40230336 rs179472 C G 456 lc VT=SNV;PN=G;NN=T;SST=Single;DP=461;DB;DBA=NA;PAF=NA;NP=1934;PC=0.005;Gene=BMP8B/NM_001720.3/1;CC=c.827G>C;ProtCh=p.S276T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:461:359:0:0:306,155:10422,5094:0.00,455.53:0.00,257.96:0.00,197.57:0.00,1.00:0.00,1.00:0.00,1.00:48,45:7.4,40.1:0,0:0,0:68,62:73,86:31,30:-,NM_001720.3(BMP8B) c.827G>C (p.Ser276Thr):-,0.34:-,NOT_FOUND 1 40230490 . C . . NT END=40230496;NT GT ./. 1 40230681 . C . . NT END=40235373;NT GT ./. 1 40230828 . A G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;NP=6;Gene=BMP8B/NM_001720.3/1;CC=c.674-339T>C;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,G:13:0:0:0:8,5:232,176:0.00,16.23:0.00,0.00:0.00,16.23:0.00,0.91:0.00,0.00:0.00,0.91:27,27:5.2,40.0:0,0:0,0:119,126:32,25:14,14:-,NM_001720.3(BMP8B) c.674-339T>C:-,NOT_FOUND:-,NOT_FOUND 1 40235277 rs230320 A G 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7414,G/0.2586;NP=169;Gene=BMP8B/NM_001720.3/1;CC=c.673+4703T>C;VC=Intron;Gene=OXCT2/NM_022120.1/1;CC=c.*97T>C;VC=3UTR;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:28:27:0:0:16,11,1:477,339,8:0.00,31.20,-0.07:0.00,28.94,-0.06:0.00,2.26,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.69,0.00:51,50,44:20.1,40.3,66.0:0,0,0:0,0,0:62,52,45:89,99,106:40,33,0:-,NM_022120.1(OXCT2) c.*97T>C:-,NOT_FOUND:-,NOT_FOUND 1 40235489 rs77857664 T C 52 lc VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=368;PC=0.614;Gene=BMP8B/NM_001720.3/1;CC=c.673+4491A>G;VC=Intron;Gene=OXCT2/NM_022120.1/1;CC=c.1439A>G;ProtCh=p.E480G;VC=Missense;DM=BMP8B/TGFb_propeptide;DM=OXCT2/CoA_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:167:112:0:0:22,145:697,4663:52.00,0.00:28.09,0.00:23.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,59:38.8,11.1:0,0:0,0:116,82:33,62:16,34:NM_022120.1(OXCT2) c.1439A>G (p.Glu480Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 40236074 rs230321 A C 146 lc VT=SNV;PN=C;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=NA;Gene=BMP8B/NM_001720.3/1;CC=c.673+3906T>G;VC=Intron;Gene=OXCT2/NM_022120.1/1;CC=c.854T>G;ProtCh=p.L285R;VC=Missense;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:143:105:0:0:90,52,1:2885,1614,5:0.00,145.71,-0.26:0.00,117.09,-0.11:0.00,28.61,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,42:15.5,40.8,5.0:0,0,0:0,0,0:86,38,92:60,110,59:35,22,0:-,NM_022120.1(OXCT2) c.854T>G (p.Leu285Arg):-,0.22:-,NOT_FOUND 1 40236815 rs2636342 A G 18 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=NA;Gene=BMP8B/NM_001720.3/1;CC=c.673+3165T>C;VC=Intron;Gene=OXCT2/NM_022120.1/1;CC=c.113T>C;ProtCh=p.L38P;VC=Missense;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,G:106:70:0:0:97,9:3092,268:0.00,17.74:0.00,18.71:0.00,-0.97:0.00,0.96:0.00,0.99:0.00,0.99:49,42:6.4,53.6:0,0:0,0:69,15:80,135:41,12:-,NM_022120.1(OXCT2) c.113T>C (p.Leu38Pro):-,0.04:-,NOT_FOUND 1 40236928 . A . . NT END=40239357;NT GT ./. 1 40236981 rs369406165 G A 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.9457,A/0.05431;NP=76;Gene=BMP8B/NM_001720.3/1;CC=c.673+2999C>T;VC=Intron;Gene=OXCT2/NM_022120.1/1;CC=c.-54C>T;VC=5UTR;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:19:0:0:31,37:983,1094:92.74,0.00:13.02,0.00:79.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,50:46.5,7.7:0,0:0,0:123,120:28,31:18,28:NM_022120.1(OXCT2) c.-54C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 40237069 rs369113959 T C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.6633,C/0.3367;NP=179;Gene=BMP8B/NM_001720.3/1;CC=c.673+2911A>G;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:19:0:0:0:4,15:128,430:10.47,0.00:0.00,0.00:10.47,0.00:0.72,0.00:0.00,0.00:0.72,0.00:48,58:54.5,10.0:0,0:0,0:84,88:66,63:23,48:NM_001720.3(BMP8B) c.673+2911A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 40239377 . C . . NT END=40239979;NT GT ./. 1 40240129 . C . . NT END=40240520;NT GT ./. 1 40240691 rs370056406 C T 114 lc VT=SNV;PN=C;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.9531,T/0.04692;NP=99;PC=1.000;Gene=BMP8B/NM_001720.3/1;CC=c.354G>A;ProtCh=p.L118=;VC=Silent;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:78:64:0:0:38,1,39:1209,9,1187:0.00,-0.12,114.02:0.00,-0.09,76.01:0.00,-0.03,38.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,27,42:5.2,70.0,41.2:0,0,0:0,0,0:30,16,51:119,135,99:17,0,32:-,NM_001720.3(BMP8B) c.354G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 40240711 . C . . NT END=40253823;NT GT ./. 1 40240843 rs34047126 C T 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.882,T/0.118;PC=0.002;Gene=BMP8B/NM_001720.3/1;CC=c.335-133G>A;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:46:0:0:0:21,1,24:576,10,789:0.00,-0.01,76.88:0.00,0.00,0.00:0.00,-0.01,76.88:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,58:13.9,198.0,34.7:0,0,0:0,0,0:100,42,106:51,109,43:27,0,33:-,NM_001720.3(BMP8B) c.335-133G>A:-,0.11:-,NOT_FOUND 1 40253552 rs3856260 C T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8726,T/0.1274;Gene=BMP8B/NM_001720.3/1;CC=c.334+272G>A;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:9:8:0:0:5,4:158,128:0.00,12.02:0.00,8.50:0.00,3.52:0.00,0.85:0.00,0.98:0.00,0.63:56,50:40.8,57.8:2,0:0,0:47,55:104,96:5,32:-,NM_001720.3(BMP8B) c.334+272G>A:-,0.11:-,NOT_FOUND 1 40253726 rs230328 C T 95 nt VT=SNV;PN=A;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.5499,T/0.4501;Gene=BMP8B/NM_001720.3/1;CC=c.334+98G>A;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:92:0:0:67,33:2204,1070:0.00,95.22:0.00,73.20:0.00,22.02:0.00,1.00:0.00,1.00:0.00,1.00:60,46:12.4,96.1:0,0:0,0:44,54:105,96:21,32:-,NM_001720.3(BMP8B) c.334+98G>A:-,0.42:-,NOT_FOUND 1 40253768 rs60164088 C CA 115 nt VT=INS;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.5058,CA/0.4942;NP=501;Gene=BMP8B/NM_001720.3/1;CC=c.334+55_334+56insT;VC=Intron;DM=BMP8B/TGFb_propeptide;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:130:115:43:0:1,86,43:10,2863,1301:-0.22,0.00,114.97:-0.11,0.00,82.31:-0.10,0.00,32.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:57,60,59:52.0,7.7,89.7:0,0,0:0,0,0:55,73,55:94,66,89:0,32,31:-,NM_001720.3(BMP8B) c.334+55_334+56insT:-,0.5:-,NOT_FOUND 1 40253770 rs56298727 C T 122 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.5052,T/0.4948;DB;DBA=NA;PAF=NA;NP=57;Gene=BMP8B/NM_001720.3/1;CC=c.334+54G>A;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I:131:115:1:0:89,41,1:2811,1381,27:0.00,122.48,0.80:0.00,85.82,0.36:0.00,36.66,0.45:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,59,57:10.0,87.9,47.0:0,40,0:0,0,0:70,54,33:68,91,118:35,24,0:-,NM_001720.3(BMP8B) c.334+54G>A:-,NOT_FOUND:-,NOT_FOUND 1 40253786 rs230329 C T 169 nt VT=SNV;PN=G;NN=T;SST=Single;DP=153;DB;DBA=NA;PAF=C/0.5074,T/0.4926;Gene=BMP8B/NM_001720.3/1;CC=c.334+38G>A;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:153:133:0:0:92,61:3171,1850:0.00,169.38:0.00,107.96:0.00,61.42:0.00,1.00:0.00,1.00:0.00,1.00:60,69:8.7,71.3:0,0:0,0:84,41:57,102:35,27:-,NM_001720.3(BMP8B) c.334+38G>A:-,0.52:-,NOT_FOUND 1 40253810 rs56694047 GC G 204 nt VT=DEL;SST=Single;DP=171;DB;DBA=NA;PAF=GC/0.8766,G/0.1234;NP=172;PC=0.001;Gene=BMP8B/NM_001720.3/1;CC=c.334+13delG;VC=Intron;DM=BMP8B/TGFb_propeptide;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:171:142:0:72:99,72:3249,2207:0.00,204.49:0.00,135.09:0.00,69.40:0.00,1.00:0.00,1.00:0.00,1.00:60,69:11.7,54.7:0,0:0,0:66,44:77,96:43,28:-,NM_001720.3(BMP8B) c.334+13delG:-,0.11:-,0.153084 1 40253812 rs57439527 G A 212 nt VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=G/0.8768,A/0.1232;Gene=BMP8B/NM_001720.3/1;CC=c.334+12C>T;VC=Intron;DM=BMP8B/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:171:141:0:0:71,1,98,1:2278,8,3007,11:211.72,-0.22,0.00,-0.18:136.10,-0.11,0.00,-0.07:75.62,-0.11,0.00,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:69,60,60,45:52.8,8.0,8.6,148.0:0,0,0,0:0,0,0,0:45,122,63,94:94,29,83,57:29,0,43,0:NM_001720.3(BMP8B) c.334+12C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 40254158 . G . . NT END=40307415;NT GT ./. 1 40307586 . C . . NT END=40309772;NT GT ./. 1 40307719 rs230310 A G 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2163,G/0.7837;Gene=TRIT1/NM_001312691/0;CC=c.1157-134T>C;VC=Intron;Gene=TRIT1/NM_001312692/0;CC=c.989-134T>C;VC=Intron;Gene=TRIT1/NM_017646.4/1;CC=c.1235-134T>C;VC=Intron;Gene=TRIT1/NR_132401/0;VC=NonCoding;Gene=TRIT1/NR_132402/0;VC=NonCoding;Gene=TRIT1/NR_132403/0;VC=NonCoding;Gene=TRIT1/NR_132404/0;VC=NonCoding;Gene=TRIT1/NR_132405/0;VC=NonCoding;Gene=TRIT1/NR_132406/0;VC=NonCoding;Gene=TRIT1/NR_132407/0;VC=NonCoding;Gene=TRIT1/NR_132408/0;VC=NonCoding;Gene=TRIT1/NR_132409/0;VC=NonCoding;Gene=TRIT1/NR_132410/0;VC=NonCoding;Gene=TRIT1/NR_132412/0;VC=NonCoding;Gene=TRIT1/NR_132413/0;VC=NonCoding;Gene=TRIT1/NR_132414/0;VC=NonCoding;Gene=TRIT1/NR_132415/0;VC=NonCoding;DM=TRIT1/zf-C2H2_jaz GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:0:0:0:14,8:468,239:0.00,21.45:0.00,0.00:0.00,21.45:0.00,0.99:0.00,0.00:0.00,0.99:60,60:11.1,32.6:0,0:0,0:101,128:50,23:26,6:-,NM_017646.4(TRIT1) c.1235-134T>C:-,0.78:-,NOT_FOUND 1 40309891 . C . . NT END=40310202;NT GT ./. 1 40310313 . C . . NT END=40312891;NT GT ./. 1 40312970 . C . . NT END=40313219;NT GT ./. 1 40313018 rs75996803 C G 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.983,G/0.01697;PC=0.002;Gene=TRIT1/NM_001312691/0;CC=c.928+202G>C;VC=Intron;Gene=TRIT1/NM_001312692/0;CC=c.683-49G>C;VC=Intron;Gene=TRIT1/NM_017646.4/1;CC=c.929-49G>C;VC=Intron;Gene=TRIT1/NR_132401/0;VC=NonCoding;Gene=TRIT1/NR_132402/0;VC=NonCoding;Gene=TRIT1/NR_132403/0;VC=NonCoding;Gene=TRIT1/NR_132404/0;VC=NonCoding;Gene=TRIT1/NR_132405/0;VC=NonCoding;Gene=TRIT1/NR_132406/0;VC=NonCoding;Gene=TRIT1/NR_132407/0;VC=NonCoding;Gene=TRIT1/NR_132408/0;VC=NonCoding;Gene=TRIT1/NR_132409/0;VC=NonCoding;Gene=TRIT1/NR_132410/0;VC=NonCoding;Gene=TRIT1/NR_132412/0;VC=NonCoding;Gene=TRIT1/NR_132413/0;VC=NonCoding;Gene=TRIT1/NR_132414/0;VC=NonCoding;Gene=TRIT1/NR_132415/0;VC=NonCoding;DM=TRIT1/IPPT;DM=TRIT1/IPPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:19:0:0:17,16:592,500:0.00,47.64:0.00,27.79:0.00,19.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,35.9:0,0:0,0:95,89:55,61:30,31:-,NM_017646.4(TRIT1) c.929-49G>C:-,0.01:-,0.026838 1 40313420 . c . . NT END=40313657;NT GT ./. 1 40313770 . C . . NT END=40315790;NT GT ./. 1 40315871 rs34889376 G A 106 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.9974,A/0.002596;NP=60;PC=0.997;Gene=TRIT1/NM_001312691/0;CC=c.623C>T;ProtCh=p.T208M;VC=Missense;Gene=TRIT1/NM_001312692/0;CC=c.383C>T;ProtCh=p.T128M;VC=Missense;Gene=TRIT1/NM_017646.4/1;CC=c.623C>T;ProtCh=p.T208M;VC=Missense;Gene=TRIT1/NR_132401/0;VC=NonCoding;Gene=TRIT1/NR_132402/0;VC=NonCoding;Gene=TRIT1/NR_132403/0;VC=NonCoding;Gene=TRIT1/NR_132404/0;VC=NonCoding;Gene=TRIT1/NR_132405/0;VC=NonCoding;Gene=TRIT1/NR_132406/0;VC=NonCoding;Gene=TRIT1/NR_132407/0;VC=NonCoding;Gene=TRIT1/NR_132408/0;VC=NonCoding;Gene=TRIT1/NR_132409/0;VC=NonCoding;Gene=TRIT1/NR_132410/0;VC=NonCoding;Gene=TRIT1/NR_132412/0;VC=NonCoding;Gene=TRIT1/NR_132413/0;VC=NonCoding;Gene=TRIT1/NR_132414/0;VC=NonCoding;Gene=TRIT1/NR_132415/0;VC=NonCoding;DM=TRIT1/IPPT;DM=TRIT1/IPPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:47:0:0:34,35:1103,1090:105.78,0.00:57.41,0.00:48.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,8.2:0,0:0,0:72,56:77,95:16,34:NM_017646.4(TRIT1) c.623C>T (p.Thr208Met),-:0.0027,-:0.005997,- 1 40315934 . C . . NT END=40318402;NT GT ./. 1 40318549 . C . . NT END=40319641;NT GT ./. 1 40319587 rs2294814 A C 51 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.3944,C/0.6056;Gene=TRIT1/NM_001312691/0;CC=c.414+55T>G;VC=Intron;Gene=TRIT1/NM_001312692/0;CC=c.175-1039T>G;VC=Intron;Gene=TRIT1/NM_017646.4/1;CC=c.414+55T>G;VC=Intron;Gene=TRIT1/NR_132401/0;VC=NonCoding;Gene=TRIT1/NR_132402/0;VC=NonCoding;Gene=TRIT1/NR_132403/0;VC=NonCoding;Gene=TRIT1/NR_132404/0;VC=NonCoding;Gene=TRIT1/NR_132405/0;VC=NonCoding;Gene=TRIT1/NR_132406/0;VC=NonCoding;Gene=TRIT1/NR_132407/0;VC=NonCoding;Gene=TRIT1/NR_132408/0;VC=NonCoding;Gene=TRIT1/NR_132409/0;VC=NonCoding;Gene=TRIT1/NR_132410/0;VC=NonCoding;Gene=TRIT1/NR_132412/0;VC=NonCoding;Gene=TRIT1/NR_132413/0;VC=NonCoding;Gene=TRIT1/NR_132414/0;VC=NonCoding;Gene=TRIT1/NR_132415/0;VC=NonCoding;DM=TRIT1/IPPT;DM=TRIT1/IPPT;DM=TRIT1/IPPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:24:0:0:11,15:370,512:0.00,50.66:0.00,41.24:0.00,9.43:0.00,1.00:0.00,1.00:0.00,0.98:60,60:6.5,39.7:0,0:0,0:33,50:118,100:19,30:-,NM_017646.4(TRIT1) c.414+55T>G:-,0.59:-,NOT_FOUND 1 40319741 . G . . NT END=40322948;NT GT ./. 1 40323090 . C . . NT END=40328459;NT GT ./. 1 40328603 . G . . NT END=40348989;NT GT ./. 1 40349164 . C . . NT END=40363043;NT GT ./. 1 40349333 rs61318917 G A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9419,A/0.05811 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:1:0:0:10,12:275,319:25.66,0.00:-0.26,0.00:25.93,0.00:1.00,0.00:0.64,0.00:1.00,0.00:60,60:64.9,16.9:1,3:0,0:127,101:23,48:16,27:NM_017646.4(TRIT1) c.-14-u156C>T,-:0.06,-:NOT_FOUND,- 1 40349410 rs7535397 T C 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3944,C/0.6056;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,T:13:1:0:0:4,9:83,265:6.69,0.00:-0.08,0.00:6.77,0.00:0.79,0.00:0.54,0.00:0.79,0.00:60,60:120.0,6.3:0,0:0,0:98,53:52,97:29,21:NM_017646.4(TRIT1) c.-14-u233A>G,-:0.59,-:NOT_FOUND,- 1 40363054 rs3134614 G C 320 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.0643,C/0.9357;PC=0.992;Gene=MYCL/NM_001033081.2/0;CC=c.1085C>G;ProtCh=p.T362S;VC=Missense;Gene=MYCL/NM_001033082.2/1;CC=c.1175C>G;ProtCh=p.T392S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:85:76:0:0:85:2800:320.40:236.65:83.75:1.00:1.00:1.00:60:40.1:0:0:38:109:22:NM_001033082.2(MYCL1) c.1175C>G (p.Thr392Ser),NM_001033082.2(MYCL1) c.1175C>G (p.Thr392Ser):0.95,0.95:0.90366,0.90366 1 40363739 . G . . NT END=40364307;NT GT ./. 1 40364769 . A . . NT END=40365283;NT GT ./. 1 40364803 rs3134613 C A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.4038,A/0.5962;PC=1.000;Gene=MYCL/NM_001033081.2/0;CC=c.497-1161G>T;VC=Intron;Gene=MYCL/NM_001033082.2/1;CC=c.587-1161G>T;VC=Intron;DM=MYCL/Myc_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:47:16:0:0:14,33:392,1119:33.42,0.00:6.65,0.00:26.77,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:35.1,6.8:0,0:0,0:89,84:61,67:35,23:NM_001033082.2(MYCL1) c.587-1161G>T,-:0.57,-:NOT_FOUND,- 1 40364988 rs3117087 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9669,T/0.03315;PC=0.002;Gene=MYCL/NM_001033081.2/0;CC=c.497-1346G>A;VC=Intron;Gene=MYCL/NM_001033082.2/1;CC=c.587-1346G>A;VC=Intron;DM=MYCL/Myc_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,T:10:1:0:0:6,4:184,125:0.00,11.49:0.00,3.38:0.00,8.11:0.00,0.84:0.00,0.60:0.00,0.98:60,60:4.8,61.8:0,0:0,0:95,72:55,78:12,51:-,NM_001033082.2(MYCL1) c.587-1346G>A:-,0.02:-,NOT_FOUND 1 40367561 . G . . NT END=40420964;NT GT ./. 1 40367592 rs804719 A G 234 nt VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=393;PC=0.808;Gene=MYCL/NM_001033081.2/0;CC=c.-486T>C;VC=5UTR;Gene=MYCL/NM_001033082.2/1;CC=c.-32T>C;VC=5UTR;Gene=MYCL/NM_005376.4/0;CC=c.-32T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:C,G:66:28:0:0:1,65:10,2036:0.14,234.03:0.00,61.36:0.14,172.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,42.2:0,0:0,0:63,97:88,50:0,26:NM_001033082.2(MYCL1) c.-32T>C,NM_001033082.2(MYCL1) c.-32T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 40421058 . G . . NT END=40422758;NT GT ./. 1 40422587 . C CA 9 idl,rn VT=INS;SST=Single;DP=14;PC=0.059;Gene=MFSD2A/NM_001136493.2/1;CC=c.94-142_94-141insA;VC=Intron;Gene=MFSD2A/NM_001287808.1/0;CC=c.-116+1560_-116+1561insA;VC=Intron;Gene=MFSD2A/NM_001287809.1/0;CC=c.94-253_94-252insA;VC=Intron;Gene=MFSD2A/NM_032793.4/0;CC=c.94-142_94-141insA;VC=Intron;Gene=MFSD2A/NR_109896.1/0;VC=NonCoding;DM=MFSD2A/MFS_2;RN=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,CA,D:10:14:6:3:5,3,2:163,192,98:0.00,8.70,5.43:0.00,8.70,5.43:0.00,0.00,0.00:0.00,0.56,0.00:0.00,0.56,0.00:0.00,0.00,0.00:60,60,60:57.2,135.7,90.5:0,3,1:0,0,0:64,10,50:42,141,100:49,5,1:-,NM_001136493.1(MFSD2A) c.94-172_94-171insA:-,NOT_FOUND:-,NOT_FOUND 1 40422620 . T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;NP=5;PC=0.804;Gene=MFSD2A/NM_001136493.2/1;CC=c.94-139T>G;VC=Intron;Gene=MFSD2A/NM_001287808.1/0;CC=c.-116+1563T>G;VC=Intron;Gene=MFSD2A/NM_001287809.1/0;CC=c.94-250T>G;VC=Intron;Gene=MFSD2A/NM_032793.4/0;CC=c.94-139T>G;VC=Intron;Gene=MFSD2A/NR_109896.1/0;VC=NonCoding;DM=MFSD2A/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:G,T:21:21:0:0:8,13:105,254:8.18,0.00:8.18,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,70:64.0,41.4:1,1:0,0:44,39:106,109:12,15:NM_001136493.1(MFSD2A) c.94-139T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 40422894 . G . . NT END=40424333;NT GT ./. 1 40424498 . G . . NT END=40430882;NT GT ./. 1 40428291 rs115425943 T C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.987,C/0.01298;PC=0.989;Gene=MFSD2A/NM_001136493.2/1;CC=c.393-2592T>C;VC=Intron;Gene=MFSD2A/NM_001287808.1/0;CC=c.-115-2592T>C;VC=Intron;Gene=MFSD2A/NM_001287809.1/0;CC=c.243-2592T>C;VC=Intron;Gene=MFSD2A/NM_032793.4/0;CC=c.354-2592T>C;VC=Intron;Gene=MFSD2A/NR_109896.1/0;VC=NonCoding;DM=MFSD2A/MFS_2;DM=MFSD2A/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:14:0:0:7,11:214,383:19.49,0.00:10.28,0.00:9.22,0.00:0.98,0.00:1.00,0.00:1.00,0.00:60,60:55.0,5.2:0,0:0,0:77,78:50,64:23,17:NM_001136493.1(MFSD2A) c.393-2592T>C,-:0.01,-:NOT_FOUND,- 1 40428328 rs3131700 G T 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3774,T/0.6226;PC=0.998;Gene=MFSD2A/NM_001136493.2/1;CC=c.393-2555G>T;VC=Intron;Gene=MFSD2A/NM_001287808.1/0;CC=c.-115-2555G>T;VC=Intron;Gene=MFSD2A/NM_001287809.1/0;CC=c.243-2555G>T;VC=Intron;Gene=MFSD2A/NM_032793.4/0;CC=c.354-2555G>T;VC=Intron;Gene=MFSD2A/NR_109896.1/0;VC=NonCoding;DM=MFSD2A/MFS_2;DM=MFSD2A/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:13:0:0:10,10:337,308:0.00,29.54:0.00,17.65:0.00,11.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,54.5:0,0:0,0:93,42:49,109:24,24:-,NM_001136493.1(MFSD2A) c.393-2555G>T:-,0.61:-,NOT_FOUND 1 40428587 rs3131699 G T 66 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.6567,T/0.3433;PC=1.000;Gene=MFSD2A/NM_001136493.2/1;CC=c.393-2296G>T;VC=Intron;Gene=MFSD2A/NM_001287808.1/0;CC=c.-115-2296G>T;VC=Intron;Gene=MFSD2A/NM_001287809.1/0;CC=c.243-2296G>T;VC=Intron;Gene=MFSD2A/NM_032793.4/0;CC=c.354-2296G>T;VC=Intron;Gene=MFSD2A/NR_109896.1/0;VC=NonCoding;DM=MFSD2A/MFS_2;DM=MFSD2A/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:54:45:0:0:31,23:1026,713:0.00,66.27:0.00,38.36:0.00,27.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,49.0:0,0:0,0:62,75:83,74:31,29:-,NM_001136493.1(MFSD2A) c.393-2296G>T:-,0.32:-,NOT_FOUND 1 40431007 . G . . NT END=40431142;NT GT ./. 1 40431222 . G . . NT END=40431528;NT GT ./. 1 40431687 . G . . NT END=40432272;NT GT ./. 1 40432364 . G . . NT END=40432482;NT GT ./. 1 40432605 . G . . NT END=40432757;NT GT ./. 1 40432842 . G . . NT END=40433299;NT GT ./. 1 40433384 . G . . NT END=40433475;NT GT ./. 1 40433589 . G . . NT END=40434005;NT GT ./. 1 40433771 rs3103778 A G 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4924,G/0.5076;Gene=MFSD2A/NM_001136493.2/1;CC=c.1247+183A>G;VC=Intron;Gene=MFSD2A/NM_001287808.1/0;CC=c.740+183A>G;VC=Intron;Gene=MFSD2A/NM_001287809.1/0;CC=c.1091+183A>G;VC=Intron;Gene=MFSD2A/NM_032793.4/0;CC=c.1208+183A>G;VC=Intron;Gene=MFSD2A/NR_109896.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:10:0:0:8,8:251,229:0.00,21.80:0.00,16.05:0.00,5.75:0.00,1.00:0.00,0.95:0.00,0.73:60,60:3.6,35.8:0,0:0,0:105,62:44,87:21,44:-,NM_001136493.1(MFSD2A) c.1247+183A>G:-,0.48:-,NOT_FOUND 1 40434150 . G . . NT END=40434240;NT GT ./. 1 40434418 . G . . NT END=40435176;NT GT ./. 1 40435241 . G . . NT END=40525018;NT GT ./. 1 40435514 rs397767103 CT C 12 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CT/0.1751,C/0.8249;DB;DBA=NA;PAF=CT/0.1751,C/0.8249;NP=201;PC=0.006;Gene=MFSD2A/NM_001136493.2/1;CC=c.*283delT;VC=3UTR;Gene=MFSD2A/NM_001287808.1/0;CC=c.*283delT;VC=3UTR;Gene=MFSD2A/NM_001287809.1/0;CC=c.*283delT;VC=3UTR;Gene=MFSD2A/NM_032793.4/0;CC=c.*283delT;VC=3UTR;Gene=MFSD2A/NR_109896.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CT,C:6:0:0:4:2,4:68,122:0.00,12.45:0.00,0.00:0.00,12.45:0.00,0.93:0.00,0.00:0.00,0.93:60,60:24.0,0.0:0,0:0,0:142,110:8,40:0,10:-,NM_001136493.1(MFSD2A) c.*275T[8]:-,NOT_FOUND:-,NOT_FOUND 1 40460434 rs114159781 G C 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9958,C/0.004193;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:C,G:4:4:0:0:2,2:66,58:6.35,0.00:6.50,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:33.0,0.0:0,0:0,0:61,31:89,119:48,30:chr1 g.40460433G>C (intergenic),-:0.01,-:NOT_FOUND,- 1 40524866 rs3122417 T C 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3411,C/0.6589;PC=0.168;Gene=CAP1/NM_001105530.1/0;CC=c.-10-143T>C;VC=Intron;Gene=CAP1/NM_006367.3/1;CC=c.-10-143T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,G:9:9:0:0:8,1:260,11:29.40,0.68:29.40,0.68:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.9,44.0:0,0:0,0:24,78:108,73:19,0:NM_006367.3(CAP1) c.-10-143T>C,NM_006367.3(CAP1) c.-10-143T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 40525131 . G . . NT END=40525738;NT GT ./. 1 40525843 . G . . NT END=40527406;NT GT ./. 1 40526003 rs3122419 T C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.152,C/0.848;Gene=CAP1/NM_001105530.1/0;CC=c.216+161T>C;VC=Intron;Gene=CAP1/NM_006367.3/1;CC=c.216+161T>C;VC=Intron;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N;DM=CAP1/CAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,C:10:0:0:0:1,9:8,259:0.40,29.69:0.00,0.00:0.40,29.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:49.0,39.7:0,0:0,0:70,97:80,54:0,21:NM_006367.3(CAP1) c.216+161T>C,NM_006367.3(CAP1) c.216+161T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 40527485 . G . . NT END=40529898;NT GT ./. 1 40530043 . G . . NT END=40530145;NT GT ./. 1 40530232 . G . . NT END=40531886;NT GT ./. 1 40531993 . G . . NT END=40533211;NT GT ./. 1 40533266 rs11207440 T G 250 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=3455;PC=0.844;Gene=CAP1/NM_001105530.1/0;CC=c.685T>G;ProtCh=p.C229G;VC=Missense;Gene=CAP1/NM_006367.3/1;CC=c.685T>G;ProtCh=p.C229G;VC=Missense;DM=CAP1/CAP_N;DM=CAP1/CAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:38:0:0:68:2177:250.03:103.88:146.16:1.00:1.00:1.00:60:122.2:0:0:86:59:26:NM_006367.3(CAP1) c.=,NM_006367.3(CAP1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 40533287 rs6665926 T G 219 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=3302;PC=1.000;Gene=CAP1/NM_001105530.1/0;CC=c.706T>G;ProtCh=p.C236G;VC=Missense;Gene=CAP1/NM_006367.3/1;CC=c.706T>G;ProtCh=p.C236G;VC=Missense;DM=CAP1/CAP_N;DM=CAP1/CAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:171:C,G:64:29:0:2:1,63:10,1896:0.15,219.03:0.15,71.59:0.00,147.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:112.0,149.4:0,0:0,0:103,92:48,57:0,25:NM_006367.3(CAP1) c.=,NM_006367.3(CAP1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 40533315 rs6665933 T G 206 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=174;PC=0.998;Gene=CAP1/NM_001105530.1/0;CC=c.734T>G;ProtCh=p.I245S;VC=Missense;Gene=CAP1/NM_006367.3/1;CC=c.734T>G;ProtCh=p.I245S;VC=Missense;DM=CAP1/CAP_N;DM=CAP1/CAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:G,T:60:22:0:0:59,1:1797,11:205.80,0.00:45.58,0.00:160.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:163.9,83.0:0,0:0,0:107,141:43,10:27,0:NM_006367.3(CAP1) c.=,NM_006367.3(CAP1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 40533320 rs6665936 T G 182 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=59;PC=0.006;Gene=CAP1/NM_001105530.1/0;CC=c.739T>G;ProtCh=p.C247G;VC=Missense;Gene=CAP1/NM_006367.3/1;CC=c.739T>G;ProtCh=p.C247G;VC=Missense;DM=CAP1/CAP_N;DM=CAP1/CAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:A,C,G:55:21:0:0:1,1,53:12,12,1583:0.25,0.25,182.49:0.25,0.25,42.24:0.00,0.00,140.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:83.0,135.0,171.1:0,0,0:0,0,0:146,100,102:5,49,48:0,0,31:NM_006367.3(CAP1) c.=,NM_006367.3(CAP1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 40533326 rs6665937 T G 178 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=132;PC=1.000;Gene=CAP1/NM_001105530.1/0;CC=c.745T>G;ProtCh=p.Y249D;VC=Missense;Gene=CAP1/NM_006367.3/1;CC=c.745T>G;ProtCh=p.Y249D;VC=Missense;DM=CAP1/CAP_N;DM=CAP1/CAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:A,G,T:49:19:0:0:1,47,1:12,1573,8:0.26,177.84,0.00:0.26,45.01,0.00:0.00,132.83,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:135.0,173.5,201.0:0,0,0:0,0,0:106,106,66:43,44,85:0,29,0:NM_006367.3(CAP1) c.=,NM_006367.3(CAP1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 40533347 rs6665944 T G 147 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=3272;PC=1.000;Gene=CAP1/NM_001105530.1/0;CC=c.766T>G;ProtCh=p.S256A;VC=Missense;Gene=CAP1/NM_006367.3/1;CC=c.766T>G;ProtCh=p.S256A;VC=Missense;DM=CAP1/CAP_N;DM=CAP1/CAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C,G,T:41:18:0:0:1,39,1:10,1307,10:0.20,147.37,0.00:0.20,36.77,0.00:0.00,110.59,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:201.0,148.4,135.0:0,0,0:0,0,0:87,78,127:64,72,22:0,37,0:NM_006367.3(CAP1) c.=,NM_006367.3(CAP1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 40533390 . G . . NT END=40535361;NT GT ./. 1 40535547 . G . . NT END=40535830;NT GT ./. 1 40535955 . G . . NT END=40536101;NT GT ./. 1 40536074 rs58190778 C CT 147 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2634,CT/0.7366;NP=3436;Gene=CAP1/NM_001105530.1/0;CC=c.1118-28_1118-27insT;VC=Intron;Gene=CAP1/NM_006367.3/1;CC=c.1118-28_1118-27insT;VC=Intron;DM=CAP1/CAP_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C,CT:43:20:42:0:1,42:25,1290:0.00,146.97:0.00,41.91:0.00,105.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,15.0:0,0:0,0:149,56:2,90:0,35:NM_006367.3(CAP1) c.1118-28_1118-27insT,NM_006367.3(CAP1) c.1118-28_1118-27insT:NOT_FOUND,NOT_FOUND:0.992936,0.992936 1 40536185 . G . . NT END=40536507;NT GT ./. 1 40536652 . G . . NT END=40537121;NT GT ./. 1 40537206 . G . . NT END=40539732;NT GT ./. 1 40539448 rs1126970 A C,G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3389,C/0.6611;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:9:C,G:4:4:0:0:3,1:88,14:9.85,1.28:9.85,1.28:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:29.3,100.0:0,0:0,0:48,43:103,107:2,0:NM_000310.3(PPT1) c.*285T>G,NM_000310.3(PPT1) c.*285T>C:0.69,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 40539856 . C . . NT END=40542288;NT GT ./. 1 40540102 rs34416582 G C 18 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1344,C/0.8656;DB;DBA=NA;PAF=NA;Gene=PPT1/NM_000310.3/1;CC=c.799-247C>G;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.490-247C>G;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:1:5:160:18.38:1.94:16.45:1.00:1.00:1.00:60:43.8:0:0:119:31:28:NM_000310.3(PPT1) c.799-247C>G,NM_000310.3(PPT1) c.799-247C>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 40542586 . C . . NT END=40544231;NT GT ./. 1 40544331 . C . . NT END=40546068;NT GT ./. 1 40545964 rs3122428 T G 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2658,G/0.7342;Gene=PPT1/NM_000310.3/1;CC=c.627+105A>C;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.318+105A>C;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:400:46.10:46.10:0.00:1.00:1.00:0.00:60:40.7:0:0:58:93:20:NM_000310.3(PPT1) c.627+105A>C,NM_000310.3(PPT1) c.627+105A>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 40546160 . C . . NT END=40555081;NT GT ./. 1 40554958 rs61482632 C CAAAAAAAAAAAAAA 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6424,CAAAAAAAAAAAAAAA/0.3576,CAAAAAAAAAAAAAAAAAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.122;Gene=PPT1/NM_000310.3/1;CC=c.536+123_536+124insTTTTTTTTTTTTTT;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.227+123_227+124insTTTTTTTTTTTTTT;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CAAAAAAAAAAAAAA:4:5:3:0:2,2:71,100:0.00,6.31:0.00,6.31:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:0.0,32.5:0,1:0,0:124,42:10,109:8,22:-,NM_000310.3(PPT1) c.536+123_536+124insTTTTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 40555185 . C . . NT END=40557000;NT GT ./. 1 40555321 rs3131651 C T 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5537,T/0.4463;Gene=PPT1/NM_000310.3/1;CC=c.434-137G>A;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.125-137G>A;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:264:30.66:0.00:30.66:1.00:0.00:1.00:60:54.7:0:0:33:115:20:NM_000310.3(PPT1) c.434-137G>A,NM_000310.3(PPT1) c.434-137G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 40556922 rs3122439 T C 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.005791,C/0.9942;NP=3272;Gene=PPT1/NM_000310.3/1;CC=c.433+79A>G;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.125-1738A>G;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:572:66.15:59.30:6.84:1.00:1.00:1.00:60:49.2:0:0:57:94:34:NM_000310.3(PPT1) c.433+79A>G,NM_000310.3(PPT1) c.433+79A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 40557072 . C . . NT END=40557716;NT GT ./. 1 40557656 rs6672053 G A 149 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.3788,A/0.6212;Gene=PPT1/NM_000310.3/1;CC=c.362+61C>T;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.125-2472C>T;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:A:43:37:0:0:43:1284:148.65:105.78:42.88:1.00:1.00:1.00:60:41.7:0:0:46:101:26:NM_000310.3(PPT1) c.362+61C>T,NM_000310.3(PPT1) c.362+61C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 40557845 . C . . NT END=40558069;NT GT ./. 1 40558180 . C . . NT END=40562786;NT GT ./. 1 40558256 rs4481840 C G 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.005391,G/0.9946;NP=3467;PC=0.023;Gene=PPT1/NM_000310.3/1;CC=c.125-77G>C;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.125-3072G>C;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:3:0:0:20:623:71.79:8.49:63.30:1.00:1.00:1.00:60:42.9:0:0:108:42:28:NM_000310.3(PPT1) c.125-77G>C,NM_000310.3(PPT1) c.125-77G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 40558345 rs4492608 T A 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3788,A/0.6212;PC=0.001;Gene=PPT1/NM_000310.3/1;CC=c.125-166A>T;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.125-3161A>T;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:255:29.31:0.00:29.31:1.00:0.00:1.00:60:47.9:0:0:54:96:13:NM_000310.3(PPT1) c.125-166A>T,NM_000310.3(PPT1) c.125-166A>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 40562422 rs4557961 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4569,C/0.5431;Gene=PPT1/NM_000310.3/1;CC=c.124+365A>G;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.124+365A>G;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:60:38.3:0:0:25:125:3:NM_000310.3(PPT1) c.124+365A>G,NM_000310.3(PPT1) c.124+365A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 1 40562501 rs5773687 A ATGC 24 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5673,ATGC/0.4327;NP=118;Gene=PPT1/NM_000310.3/1;CC=c.124+283_124+285dupGCA;VC=Intron;Gene=PPT1/NM_001142604.1/0;CC=c.124+283_124+285dupGCA;VC=Intron;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;DM=PPT1/Palm_thioest;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,ATGC:8:8:7:0:1,7:34,220:0.00,24.03:0.00,24.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.0,27.6:0,0:0,0:138,98:7,53:0,7:-,NM_000310.3(PPT1) c.124+285_124+286insGCA:-,0.46:-,NOT_FOUND 1 40562911 . C . . NT END=40627071;NT GT ./. 1 40562993 rs6600313 T C 398 nt VT=SNV;PN=A;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.1673,C/0.8327;Gene=PPT1/NM_000310.3/1;CC=c.-83A>G;VC=5UTR;Gene=PPT1/NM_001142604.1/0;CC=c.-83A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:107:59:0:0:107:3466:397.59:146.51:251.07:1.00:1.00:1.00:60:38.1:0:0:105:36:22:NM_000310.3(PPT1) c.-83A>G,NM_000310.3(PPT1) c.-83A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 40627309 . G . . NT END=40654726;NT GT ./. 1 40654882 . G . . NT END=40656443;NT GT ./. 1 40656526 . G . . NT END=40661303;NT GT ./. 1 40661437 . G . . NT END=40668083;NT GT ./. 1 40668287 . G . . NT END=40688245;NT GT ./. 1 40688383 . G . . NT END=40697188;NT GT ./. 1 40697331 . G . . NT END=40701463;NT GT ./. 1 40701378 rs2235985 T G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8702,G/0.1298;PC=0.314;Gene=RLF/NM_012421.3/1;CC=c.1090-86T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:28:0:0:9,19:293,620:25.96,0.00:25.96,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:35.3,2.1:0,0:0,0:42,67:109,84:22,25:NM_012421.3(RLF) c.1090-86T>G,-:0.14,-:NOT_FOUND,- 1 40702231 rs17508704 A G 116 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.992,G/0.007987;PC=0.844;Gene=RLF/NM_012421.3/1;CC=c.1857A>G;ProtCh=p.L619=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:55:0:0:45,35:1401,1226:0.00,115.52:0.00,64.38:0.00,51.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,40.7:0,0:0,0:73,64:73,84:37,31:-,NM_012421.3(RLF) c.1857A>G (p.(=)):-,0.01:-,0.029606 1 40705726 rs10889205 A T 188 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.8516,T/0.1484;Gene=RLF/NM_012421.3/1;CC=c.5352A>T;ProtCh=p.E1784D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:98:59:0:0:38,1,59:1198,11,1880:0.00,-0.04,187.84:0.00,0.05,94.70:0.00,-0.09,93.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.2,61.0,36.2:0,0,0:0,0,0:79,12,63:71,139,86:32,0,38:-,NM_012421.3(RLF) c.5352A>T (p.Glu1784Asp):-,0.15:-,0.209057 1 40706120 . G . . NT END=40713665;NT GT ./. 1 40713903 . G . . NT END=40716954;NT GT ./. 1 40714927 . ATGTGTGTG A 7 nt VT=DEL;SST=Single;DP=4;PC=0.006;Gene=TMCO2/NM_001008740.3/1;CC=c.237+1065_237+1072delGTGTGTGT;VC=Intron;DM=TMCO2/TMCCDC2;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:ATGTGTGTG,A:3:4:0:3:1,2:34,95:0.00,6.65:0.00,1.79:0.00,4.86:0.00,0.51:0.00,0.51:0.00,0.51:60,60:21.0,8.5:0,1:0,0:55,13:89,100:0,9:-,NM_001008740.3(TMCO2) c.237+1026_237+1033delTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 40716753 rs6688124 A G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=332;Gene=TMCO2/NM_001008740.3/1;CC=c.238-202A>G;VC=Intron;DM=TMCO2/TMCCDC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:164:18.78:18.78:0.00:1.00:1.00:0.00:60:45.0:0:0:69:80:36:NM_001008740.3(TMCO2) c.238-202A>G,NM_001008740.3(TMCO2) c.238-202A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 40716808 rs59384076 C CAA 13 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5543,CA/0.4457,CAA/.,CAAA/.;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=3;PC=0.007;Gene=TMCO2/NM_001008740.3/1;CC=c.238-127_238-126insAA;VC=Intron;DM=TMCO2/TMCCDC2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CAA,D:8:12:6:3:3,4,1:90,198,100:0.00,12.57,2.68:0.00,12.57,2.68:0.00,0.00,0.00:0.00,0.80,0.00:0.00,0.80,0.00:0.00,0.00,0.00:60,60,60:20.3,62.5,68.0:0,2,2:0,0,0:17,26,32:134,124,118:15,15,21:-,NM_001008740.3(TMCO2) c.238-147_238-146insAA:-,NOT_FOUND:-,NOT_FOUND 1 40717267 . A . . NT END=40723943;NT GT ./. 1 40724067 . G . . NT END=40726510;NT GT ./. 1 40726658 . G . . NT END=40728505;NT GT ./. 1 40728529 rs397699929 TA T 71 PASS VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=TA/0.4187,T/0.5813;DB;DBA=NA;PAF=TA/0.4187,T/0.5813;NP=1730;PC=0.007;Gene=ZMPSTE24/NM_005857.4/1;CC=c.270+1874delA;VC=Intron;DM=ZMPSTE24/Peptidase_M48_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:60:42:0:24:36,24:1156,774:0.00,71.30:0.00,31.08:0.00,40.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,6.2:0,0:0,0:80,92:70,57:36,27:-,NM_005857.4(ZMPSTE24) c.270+1873delA:-,0.54:-,NOT_FOUND 1 40728656 . G . . NT END=40733457;NT GT ./. 1 40733545 . G . . NT END=40734090;NT GT ./. 1 40733658 rs7516571 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=in-clinvar;PAF=A/0.7774,G/0.2226;Gene=ZMPSTE24/NM_005857.4/1;CC=c.357+114A>G;VC=Intron;DM=ZMPSTE24/Peptidase_M48_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,G:10:0:0:0:4,6:125,185:0.00,18.44:0.00,0.00:0.00,18.44:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,44.8:0,0:0,0:80,91:69,59:59,19:-,NM_005857.4(ZMPSTE24) c.357+114A>G:-,0.22:-,NOT_FOUND 1 40734208 . G . . NT END=40735646;NT GT ./. 1 40735800 . G . . NT END=40737565;NT GT ./. 1 40737516 rs6677717 T G 134 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=in-clinvar;PAF=T/0.006789,C/.,G/0.9932;NP=3405;PC=0.060;Gene=ZMPSTE24/NM_005857.4/1;CC=c.628-50T>G;VC=Intron;DM=ZMPSTE24/Peptidase_M48_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:32:0:0:37:1166:134.21:105.12:29.09:1.00:1.00:1.00:60:42.8:0:0:38:113:25:NM_005857.4(ZMPSTE24) c.628-50T>G,NM_005857.4(ZMPSTE24) c.628-50T>G:0.99,0.99:0.989848,0.989848 1 40737708 . G . . NT END=40747014;NT GT ./. 1 40747200 . G . . NT END=40751596;NT GT ./. 1 40751702 . G . . NT END=40756525;NT GT ./. 1 40756670 . G . . NT END=40758116;NT GT ./. 1 40757993 rs6664294 T C 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7843,C/0.2157;Gene=ZMPSTE24/NM_005857.4/1;CC=c.1204-124T>C;VC=Intron;DM=ZMPSTE24/Peptidase_M48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,T:21:21:0:0:14,7:463,199:47.20,0.00:47.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.1,16.0:0,0:0,0:54,20:95,131:27,12:NM_005857.4(ZMPSTE24) c.1204-124T>C,-:0.22,-:NOT_FOUND,- 1 40758342 . G . . NT END=40766853;NT GT ./. 1 40767054 . C . . NT END=40767483;NT GT ./. 1 40767562 . C . . NT END=40768292;NT GT ./. 1 40768482 . C . . NT END=40768802;NT GT ./. 1 40768858 . C . . NT END=40769201;NT GT ./. 1 40769349 . C . . NT END=40769478;NT GT ./. 1 40769512 . C . . NT END=40769599;NT GT ./. 1 40769645 . C . . NT END=40769735;NT GT ./. 1 40769772 . C . . NT END=40769991;NT GT ./. 1 40770064 . C . . NT END=40770147;NT GT ./. 1 40770202 . C . . NT END=40770465;NT GT ./. 1 40770520 . C . . NT END=40771386;NT GT ./. 1 40771441 . C . . NT END=40771814;NT GT ./. 1 40771860 . C . . NT END=40773117;NT GT ./. 1 40771973 rs2076696 C G 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8395,G/0.1605;Gene=COL9A2/NM_001852.3/1;CC=c.1009-114G>C;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:7:0:0:12,13:403,445:0.00,43.19:0.00,4.64:0.00,38.54:0.00,1.00:0.00,0.99:0.00,1.00:60,60:9.9,43.4:0,0:0,0:98,121:52,30:38,18:-,NM_001852.3(COL9A2) c.1009-114G>C:-,0.19:-,NOT_FOUND 1 40773149 rs2228564 T C 112 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.6026,A/.,C/0.3974,G/.;PC=0.901;Gene=COL9A2/NM_001852.3/1;CC=c.977A>G;ProtCh=p.Q326R;VC=Missense;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:58:0:0:38,38:1164,1288:111.59,0.00:46.28,0.00:65.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,5.3:0,0:0,0:82,69:66,80:24,25:NM_001852.3(COL9A2) c.977A>G (p.Gln326Arg),-:0.38,-:0.278102,- 1 40773172 . C . . NT END=40773374;NT GT ./. 1 40773429 . C . . NT END=40773863;NT GT ./. 1 40773514 rs75996151 G T 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.97,T/0.02995;PC=0.001;Gene=COL9A2/NM_001852.3/1;CC=c.901-86C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:8:0:0:16,12:551,368:0.00,34.20:0.00,2.59:0.00,31.62:0.00,1.00:0.00,0.98:0.00,1.00:60,60:10.0,44.1:0,0:0,0:114,87:37,60:25,30:-,NM_001852.3(COL9A2) c.901-86C>A:-,0.04:-,NOT_FOUND 1 40773918 . C . . NT END=40775609;NT GT ./. 1 40774194 rs364281 A C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1743,C/0.8257;Gene=COL9A2/NM_001852.3/1;CC=c.847-277T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:120:13.90:0.00:13.90:1.00:0.00:1.00:60:55.5:0:0:78:71:42:NM_001852.3(COL9A2) c.847-277T>G,NM_001852.3(COL9A2) c.847-277T>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 40775664 . C . . NT END=40775782;NT GT ./. 1 40775837 . C . . NT END=40775935;NT GT ./. 1 40775990 . C . . NT END=40776385;NT GT ./. 1 40776440 . C . . NT END=40776764;NT GT ./. 1 40776752 rs3737815 C A 107 nt VT=SNV;PN=G;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.8219,A/0.1781,G/.;PC=0.001;Gene=COL9A2/NM_001852.3/1;CC=c.630+13G>T;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:88:70:0:0:38,50:1153,1666:107.23,0.00:64.53,0.00:42.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.7,8.0:0,0:0,0:56,41:91,101:37,27:NM_001852.3(COL9A2) c.630+13G>T,-:0.22,-:0.122713,- 1 40776819 . C . . NT END=40776901;NT GT ./. 1 40776959 . C . . NT END=40777171;NT GT ./. 1 40777220 . C . . NT END=40777333;NT GT ./. 1 40777388 . C . . NT END=40777730;NT GT ./. 1 40777785 . C . . NT END=40778127;NT GT ./. 1 40777800 rs1979785 T G 90 nt VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.5984,C/.,G/0.4016;Gene=COL9A2/NM_001852.3/1;CC=c.364-16A>C;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:55:35:0:0:29,26:925,802:89.78,0.00:57.51,0.00:32.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.5,9.5:0,0:0,0:73,91:73,58:29,32:NM_001852.3(COL9A2) c.364-16A>C,-:0.41,-:0.272266,- 1 40777842 rs209918 A G 74 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.5729,G/0.4271;Gene=COL9A2/NM_001852.3/1;CC=c.364-58T>C;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:19:0:0:19,23:603,757:0.00,74.13:0.00,33.32:0.00,40.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,68.9:0,0:0,0:119,100:29,50:20,16:-,NM_001852.3(COL9A2) c.364-58T>C:-,0.43:-,0.288655 1 40777884 rs557307638 C CTT 6 idl,rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6845,CT/0.3155;DB;DBA=NA;PAF=C/0.6845,CT/0.3155;DB;DBA=NA;PAF=C/0.6845,CT/0.3155,CTT/.;NP=5;Gene=COL9A2/NM_001852.3/1;CC=c.364-102_364-101dupAA;VC=Intron;DM=COL9A2/Collagen;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T,CTT,D:27:11:5:4:21,1,3,2:681,10,151,130:0.00,-0.03,6.37,4.67:0.00,-0.08,-0.27,6.39:0.00,0.05,6.63,-1.72:0.00,0.00,0.42,0.00:0.00,0.00,0.60,0.00:0.00,0.00,0.81,0.00:60,18,60,60:46.2,165.0,69.7,53.5:0,0,2,2:0,0,0,0:118,40,104,35:33,74,47,115:24,0,8,16:-,NM_001852.3(COL9A2) c.364-101_364-100insAA:-,NOT_FOUND:-,NOT_FOUND 1 40778152 . C . . NT END=40778245;NT GT ./. 1 40778282 . C . . NT END=40778402;NT GT ./. 1 40778377 rs1983658 C T 96 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=COL9A2/NM_001852.3/1;CC=c.303+26G>A;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:49:0:0:45,33:1435,1037:0.00,96.36:0.00,50.01:0.00,46.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,35.7:0,0:0,0:74,90:72,61:34,43:-,NM_001852.3(COL9A2) c.303+26G>A:-,0.38:-,0.237733 1 40778457 . C . . NT END=40779876;NT GT ./. 1 40779940 . C . . NT END=40780023;NT GT ./. 1 40780060 . C . . NT END=40780909;NT GT ./. 1 40780956 rs183694459 C A 102 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.9976,A/0.002396;NP=9;PC=0.005;Gene=COL9A2/NM_001852.3/1;CC=c.150+306G>T;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:81:61:0:0:34,47:1102,1548:102.45,0.00:50.13,0.00:52.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,22.1:0,0:0,0:53,58:97,89:26,36:NM_001852.3(COL9A2) c.150+306G>T,-:0.0037,-:NOT_FOUND,- 1 40781038 rs1846158 G A 165 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.767,A/0.233;PC=0.992;Gene=COL9A2/NM_001852.3/1;CC=c.150+224C>T;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:106:61:0:0:56,2,48:1697,19,1645:165.15,-0.09,0.00:50.94,-0.17,0.00:114.21,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:31.6,118.5,21.8:0,0,0:0,0,0:97,51,71:52,100,62:35,19,37:NM_001852.3(COL9A2) c.150+224C>T,-:0.27,-:NOT_FOUND,- 1 40781072 . C . . NT END=40781261;NT GT ./. 1 40781175 rs111700365 CG C 78 nt VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=CG/0.5761,C/0.4239;NP=161;Gene=COL9A2/NM_001852.3/1;CC=c.150+86delC;VC=Intron;DM=COL9A2/Collagen;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,C:43:25:0:26:18,25:545,809:0.00,77.83:0.00,46.93:0.00,30.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,43.0:0,2:0,0:125,91:20,59:18,34:-,NM_001852.3(COL9A2) c.150+86delC:-,NOT_FOUND:-,NOT_FOUND 1 40781177 rs115504008 A C 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.5797,C/0.4203;NP=210;Gene=COL9A2/NM_001852.3/1;CC=c.150+85T>G;VC=Intron;DM=COL9A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:22:0:1:17,25:520,822:0.00,81.82:0.00,45.32:0.00,36.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,39.3:0,0:0,0:123,92:19,59:20,36:-,NM_001852.3(COL9A2) c.150+85T>G:-,NOT_FOUND:-,NOT_FOUND 1 40781337 . C . . NT END=40782794;NT GT ./. 1 40782870 . G . . NT END=40839792;NT GT ./. 1 40798730 rs397939519 A AT 20 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=697;PC=1.000;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,AT:13:13:7:0:6,7:179,205:0.00,19.94:0.00,20.28:0.00,-0.34:0.00,0.99:0.00,0.99:0.00,0.82:60,60:3.3,15.4:0,0:0,0:51,52:99,99:34,25:-,chr1 g.40798730_40798731insT (intergenic):-,0.43:-,NOT_FOUND 1 40799094 rs3856247 C T 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.5877,T/0.4123;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:18:0:0:24,13:690,392:0.00,34.99:0.00,8.16:0.00,26.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,57.5:0,0:0,0:98,73:52,78:35,43:-,chr1 g.40799093C>T (intergenic):-,0.42:-,NOT_FOUND 1 40799145 rs1817988 A G 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.5321,G/0.4679;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:19:0:0:23,12:667,391:0.00,35.09:0.00,13.60:0.00,21.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,71.2:0,0:0,0:61,72:83,78:47,40:-,chr1 g.40799144A>G (intergenic):-,0.47:-,NOT_FOUND 1 40799236 rs1826952 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.879 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,C,T:23:16:0:0:1,17,5:13,529,153:0.21,0.00,12.57:-0.15,0.00,7.04:0.36,0.00,5.53:0.00,0.00,0.84:0.00,0.00,0.95:0.00,0.00,0.97:60,60,60:124.0,3.5,55.0:0,0,0:0,0,0:16,96,34:99,47,117:0,20,18:-,chr1 g.40799235C>T (intergenic):-,0.39:-,NOT_FOUND 1 40830549 . T A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:9.34:5.57:1.00:1.00:1.00:60:60.5:0:0:27:123:22:chr1 g.40830548T>A (intergenic),chr1 g.40830548T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 40830626 rs3013460 A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4063,G/0.5937;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:132:15.11:7.40:7.70:1.00:1.00:1.00:60:60.0:0:0:81:68:23:chr1 g.40830625A>G (intergenic),chr1 g.40830625A>G (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 1 40839896 . G . . NT END=40840304;NT GT ./. 1 40840249 rs200385638 T TTGCG 23 nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.5681,TTGCG/0.4319;NP=15;PC=0.675;Gene=SMAP2/NM_022733.2/0;CC=c.103+376_103+377insCGTG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTGCG:45:44:9:0:36,9:1102,289:0.00,23.43:0.00,22.08:0.00,1.34:0.00,0.99:0.00,1.00:0.00,0.53:60,60:37.2,52.6:0,0:0,0:54,31:92,120:20,9:-,NM_022733.2(SMAP2) c.103+354_103+355insTGCG:-,0.67:-,NOT_FOUND 1 40840268 rs72258841 CGT C 9 end,rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=12;PC=0.973;Gene=SMAP2/NM_022733.2/0;CC=c.103+401_103+402delTG;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:CGT,I,C:56:53:1:5:50,1,5:1585,23,141:0.00,0.68,9.23:0.00,0.71,8.26:0.00,-0.04,0.97:0.00,0.00,0.70:0.00,0.00,0.97:0.00,0.00,0.48:60,60,60:43.4,59.0,44.4:22,0,0:0,0,0:54,68,6:96,83,144:25,0,3:-,NM_022733.2(SMAP2) c.103+374_103+375delGT:-,NOT_FOUND:-,NOT_FOUND 1 40840270 rs10645094 T TGC 53 idl,nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=13;PC=0.973;Gene=SMAP2/NM_022733.2/0;CC=c.103+376_103+377insCG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TGC:49:46:20:5:2,27,20:52,818,569:2.93,0.00,52.51:2.98,0.00,48.22:-0.05,0.00,4.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:75.0,55.6,30.9:1,0,0:0,0,0:36,52,73:114,98,72:35,25,19:-,NM_022733.2(SMAP2) c.103+375_103+376insGC:-,0.67:-,NOT_FOUND 1 40840272 rs28621835 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.970;Gene=SMAP2/NM_022733.2/0;CC=c.103+377T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,C,T:58:55:0:0:1,7,50:10,229,1308:-0.21,17.04,0.00:-0.17,14.59,0.00:-0.04,2.45,0.00:0.00,0.91,0.00:0.00,0.99,0.00:0.00,0.66,0.00:60,60,60:28.0,64.4,42.1:1,0,27:0,0,0:96,73,39:35,78,106:0,19,28:NM_022733.2(SMAP2) c.103+377T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 40840296 rs4561032 T A 70 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=SMAP2/NM_022733.2/0;CC=c.103+401T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T,D:67:61:0:5:24,42,1:772,1046,35:69.93,0.00,1.88:57.44,0.00,0.86:12.49,0.00,1.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:54.7,48.9,33.0:0,0,0:0,0,0:49,55,24:91,88,88:22,34,0:NM_022733.2(SMAP2) c.103+401T>A,-:0.46,-:NOT_FOUND,- 1 40840353 rs1003710 A G 171 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.4237,G/0.5763;PC=0.057;Gene=SMAP2/NM_022733.2/0;CC=c.103+458A>G;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.-15A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:103:82:0:0:49,54:1501,1757:0.00,170.54:0.00,114.30:0.00,56.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.6,46.9:0,0:0,0:46,58:105,86:29,27:-,NM_022733.2(SMAP2) c.103+458A>G:-,0.56:-,NOT_FOUND 1 40840690 . G . . NT END=40841418;NT GT ./. 1 40841489 . G . . NT END=40859016;NT GT ./. 1 40841498 rs71703301 ACC A 30 idl,nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=241;Gene=SMAP2/NM_022733.2/0;CC=c.103+1613_103+1614delCC;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.13+1128_13+1129delCC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:ACC,C,I,A:29:20:6:12:12,1,5,11:294,29,150,348:0.00,1.72,11.22,29.53:0.00,1.80,4.58,8.37:0.00,-0.08,6.64,21.16:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:9.2,29.0,57.8,17.2:0,0,1,1:0,0,0,0:127,113,83,95:3,13,60,55:15,0,16,24:-,NM_022733.2(SMAP2) c.103+1604_103+1605delCC:-,NOT_FOUND:-,NOT_FOUND 1 40858683 rs382611 G A 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.05312,A/0.9469;PC=0.002;Gene=SMAP2/NM_022733.2/0;CC=c.104-13725G>A;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.14-13725G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:41.0:0:0:23:128:18:NM_022733.2(SMAP2) c.104-13725G>A,NM_022733.2(SMAP2) c.104-13725G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 40858773 rs397811837 C CA 6 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1847,CA/0.8153,CAA/.;DB;DBA=NA;PAF=C/0.1847,CA/0.8153;NP=1;NP=376;PC=0.024;Gene=SMAP2/NM_022733.2/0;CC=c.104-13622_104-13621insA;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.14-13622_14-13621insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,CA:4:6:4:0:2,2:49,134:0.00,6.35:0.00,6.35:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:43.0,32.5:1,2:0,0:99,56:52,94:30,39:-,NM_022733.2(SMAP2) c.104-13635_104-13634insA:-,NOT_FOUND:-,NOT_FOUND 1 40858876 rs145828833 T TAGTC 33 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.741,TAGTC/0.259;NP=130;PC=0.052;Gene=SMAP2/NM_022733.2/0;CC=c.104-13528_104-13527insAGTC;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.14-13528_14-13527insAGTC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TAGTC:30:30:13:0:1,16,13:9,460,359:-0.01,0.00,33.43:-0.01,0.00,33.43:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:130.0,8.6,11.2:1,0,0:0,0,0:78,52,26:58,98,124:0,36,16:-,NM_022733.2(SMAP2) c.104-13532_104-13531insAGTC:-,NOT_FOUND:-,NOT_FOUND 1 40859177 . G . . NT END=40862471;NT GT ./. 1 40859213 rs556461266 CTT C 41 sb;idl,rn VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SMAP2/NM_022733.2/0;CC=c.104-13174_104-13173delTT;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.14-13174_14-13173delTT;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.88+58_88+59delTT;VC=Intron;DM=SMAP2/ArfGap;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,G,I,C:50:21:2:33:32,1,1,16:978,11,58,837:0.00,-0.04,1.76,41.06:0.00,0.09,-0.09,-0.32:0.00,-0.13,1.86,41.38:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,70:19.4,112.0,36.0,43.6:1,0,1,12:0,0,0,0:124,118,63,75:23,20,88,61:17,0,8,22:-,NM_022733.2(SMAP2) c.104-13194_104-13193delTT:-,NOT_FOUND:-,NOT_FOUND 1 40862563 . G . . NT END=40869360;NT GT ./. 1 40869084 rs388250 C G 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.05931,G/0.9407;Gene=SMAP2/NM_022733.2/0;CC=c.104-3324C>G;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.14-3324C>G;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.89-3324C>G;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.-137-3324C>G;VC=Intron;DM=SMAP2/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:163:19.12:19.12:0.00:1.00:1.00:0.00:60:38.8:0:0:49:101:20:NM_022733.2(SMAP2) c.104-3324C>G,NM_022733.2(SMAP2) c.104-3324C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 40869419 . g . . NT END=40872407;NT GT ./. 1 40872195 rs209600 G A 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.0603,A/0.9397;Gene=SMAP2/NM_022733.2/0;CC=c.104-213G>A;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.14-213G>A;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.89-213G>A;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.-137-213G>A;VC=Intron;DM=SMAP2/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:0:13:412:47.40:47.40:0.00:1.00:1.00:0.00:60:40.5:0:0:19:131:15:NM_022733.2(SMAP2) c.104-213G>A,NM_022733.2(SMAP2) c.104-213G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 40872542 . G . . NT END=40874324;NT GT ./. 1 40874411 . G . . NT END=40875428;NT GT ./. 1 40875508 . G . . NT END=40878687;NT GT ./. 1 40878508 rs209603 C T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.05192,A/.,T/0.9481;Gene=SMAP2/NM_022733.2/0;CC=c.403-180C>T;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.313-180C>T;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.388-180C>T;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.163-180C>T;VC=Intron;DM=SMAP2/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:140:16.36:16.36:0.00:1.00:1.00:0.00:60:39.4:0:0:69:81:14:NM_022733.2(SMAP2) c.403-180C>T,NM_022733.2(SMAP2) c.403-180C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 1 40878775 . G . . NT END=40879830;NT GT ./. 1 40879636 rs209604 T C 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.05192,C/0.9481;Gene=SMAP2/NM_022733.2/0;CC=c.490-195T>C;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.400-195T>C;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.475-195T>C;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.250-195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:306:34.89:34.89:0.00:1.00:1.00:0.00:60:34.9:0:0:37:111:19:NM_022733.2(SMAP2) c.490-195T>C,NM_022733.2(SMAP2) c.490-195T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 40879808 rs209605 G T 165 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.019;Gene=SMAP2/NM_022733.2/0;CC=c.490-23G>T;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.400-23G>T;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.475-23G>T;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.250-23G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:T:45:37:0:0:45:1438:165.15:97.16:68.00:1.00:1.00:1.00:60:36.1:0:0:33:109:24:NM_022733.2(SMAP2) c.490-23G>T,NM_022733.2(SMAP2) c.490-23G>T:0.95,0.95:0.942334,0.942334 1 40879913 . G . . NT END=40880943;NT GT ./. 1 40880685 rs2294753 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7877,T/0.2123;Gene=SMAP2/NM_022733.2/0;CC=c.572-259C>T;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.482-259C>T;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.557-259C>T;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.332-259C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:6:6:0:0:3,3:94,94:0.00,9.02:0.00,9.02:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:15.3,78.3:0,0:0,0:43,52:108,99:22,13:-,NM_022733.2(SMAP2) c.572-259C>T:-,0.21:-,NOT_FOUND 1 40880804 rs2294755 C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7951,T/0.2049;Gene=SMAP2/NM_022733.2/0;CC=c.572-140C>T;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.482-140C>T;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.557-140C>T;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.332-140C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:12:12:0:0:5,7:162,230:0.00,22.80:0.00,22.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,39.4:0,0:0,0:37,47:114,103:16,30:-,NM_022733.2(SMAP2) c.572-140C>T:-,0.22:-,NOT_FOUND 1 40881041 rs209606 C G 129 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.05192,A/.,G/0.9481;PC=0.023;Gene=SMAP2/NM_022733.2/0;CC=c.669C>G;ProtCh=p.S223=;VC=Silent;Gene=SMAP2/NM_001198978.1/0;CC=c.579C>G;ProtCh=p.S193=;VC=Silent;Gene=SMAP2/NM_001198979.1/0;CC=c.654C>G;ProtCh=p.S218=;VC=Silent;Gene=SMAP2/NM_001198980.1/1;CC=c.429C>G;ProtCh=p.S143=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:G:36:18:0:0:36:1116:128.73:40.75:87.98:1.00:1.00:1.00:60:33.8:0:0:91:58:23:NM_022733.2(SMAP2) c.669C>G (p.(=)),NM_022733.2(SMAP2) c.669C>G (p.(=)):0.94,0.94:0.915347,0.915347 1 40881054 . G . . NT END=40881847;NT GT ./. 1 40881834 rs373887274 C T 82 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=SMAP2/NM_022733.2/0;CC=c.682-14C>T;VC=Intron;Gene=SMAP2/NM_001198978.1/0;CC=c.592-14C>T;VC=Intron;Gene=SMAP2/NM_001198979.1/0;CC=c.667-14C>T;VC=Intron;Gene=SMAP2/NM_001198980.1/1;CC=c.442-14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:52:0:0:37,28:1144,881:0.00,82.16:0.00,44.77:0.00,37.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.2,46.8:0,0:0,0:52,31:86,110:29,15:-,NM_022733.2(SMAP2) c.682-14C>T:-,NOT_FOUND:-,0.000077 1 40882014 . G . . NT END=40882451;NT GT ./. 1 40882769 . G . . NT END=40887647;NT GT ./. 1 40887774 . A . . NT END=40916633;NT GT ./. 1 40916312 rs41268061 A G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9918,G/0.008187 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:6:6:0:0:3,3:88,100:0.00,9.63:0.00,9.63:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,39.7:0,0:0,0:53,12:94,139:14,6:-,NM_023070.2(ZNF643) c.-297-u25A>G:-,0.01:-,NOT_FOUND 1 40916761 . G . . NT END=40919874;NT GT ./. 1 40919961 . G . . NT END=40922616;NT GT ./. 1 40922744 . G . . NT END=40923012;NT GT ./. 1 40923019 rs2272994 G A 108 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.7784,A/0.2216;PC=0.002;Gene=ZFP69B/NM_023070.2/1;CC=c.344G>A;ProtCh=p.C115Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:82:61:0:0:38,1,43:1146,12,1423:108.31,-0.04,0.00:63.38,0.05,0.00:44.92,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.0,58.0,3.2:0,0,0:0,0,0:73,30,66:77,121,84:29,0,32:NM_023070.2(ZNF643) c.344G>A (p.Cys115Tyr),-:0.22,-:0.165385,- 1 40923112 . G . . NT END=40928092;NT GT ./. 1 40929262 . A . . NT END=40945033;NT GT ./. 1 40940662 rs71577626 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=37;NP=4;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:2:0:0:2,2:70,64:6.75,0.00:-0.60,0.00:7.35,0.00:0.51,0.00:0.79,0.00:0.79,0.00:60,60:67.0,31.0:1,0:0,0:93,34:58,117:3,31:NM_198494.2(ZNF642) c.-294-u2640T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 40945161 . G . . NT END=40947434;NT GT ./. 1 40947527 . G . . NT END=40954759;NT GT ./. 1 40954887 . G . . NT END=40955197;NT GT ./. 1 40955156 rs10789144 A T 50 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.735,T/0.265;PC=0.001;Gene=ZFP69/NM_198494.2/1;CC=c.347-45A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:40:33:0:0:22,18:670,531:0.00,49.69:0.00,39.49:0.00,10.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,53.1:0,0:0,0:62,49:86,98:37,26:-,NM_198494.2(ZNF642) c.347-45A>T:-,0.31:-,0.386668 1 40955179 rs531278982 G GT 8 rn VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.9992,GT/0.0007987;NP=2;Gene=ZFP69/NM_198494.2/1;CC=c.347-14dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,GT:48:37:4:0:44,4:1462,119:0.00,7.84:0.00,5.30:0.00,2.54:0.00,0.55:0.00,0.88:0.00,0.79:60,60:24.7,46.8:0,0:0,0:54,63:93,87:33,15:-,NM_198494.2(ZNF642) c.347-22_347-21insT:-,NOT_FOUND:-,0.000958 1 40955297 . G . . NT END=40960592;NT GT ./. 1 40955375 rs10157181 G C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.8914,C/0.1086;PC=0.003;Gene=ZFP69/NM_198494.2/1;CC=c.442+79G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:2:0:0:7,12:226,383:20.51,0.00:1.62,0.00:18.89,0.00:0.98,0.00:0.67,0.00:1.00,0.00:60,60:36.0,1.6:0,0:0,0:127,106:24,44:21,34:NM_198494.2(ZNF642) c.442+79G>C,-:0.11,-:NOT_FOUND,- 1 40961732 . A . . NT END=40980216;NT GT ./. 1 40980559 rs1134586 G A 129 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.8934,A/0.1066;PC=0.986;Gene=EXO5/NM_022774.1/1;CC=c.343G>A;ProtCh=p.D115N;VC=Missense;DM=EXO5/Exo5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:52:0:0:43,41:1336,1195:128.86,0.00:62.72,0.00:66.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,21.5:0,0:0,0:88,80:62,62:32,32:NM_022774.1(EXO5) c.343G>A (p.Asp115Asn),-:0.11,-:0.156236,- 1 40980668 rs35672330 T C 112 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.9802,C/0.01977;PC=0.057;Gene=EXO5/NM_022774.1/1;CC=c.452T>C;ProtCh=p.L151P;VC=Missense;DM=EXO5/Exo5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:76:51:0:0:37,1,38:1170,7,1264:112.02,-0.16,0.00:64.64,-0.05,0.00:47.38,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.8,40.0,33.5:0,0,0:0,0,0:55,130,80:78,15,70:35,0,37:NM_022774.1(EXO5) c.452T>C (p.Leu151Pro),-:0.03,-:0.048055,- 1 40980731 rs11208299 G T 140 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.4579,T/0.5421;PC=1.000;Gene=EXO5/NM_022774.1/1;CC=c.515G>T;ProtCh=p.G172V;VC=Missense;DM=EXO5/Exo5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:109:69:0:0:59,50:1760,1486:0.00,139.73:0.00,59.35:0.00,80.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.9,33.4:0,0:0,0:55,54:89,91:31,31:-,NM_022774.1(EXO5) c.515G>T (p.Gly172Val):-,0.51:-,0.461864 1 40981339 . A . . NT END=40998838;NT GT ./. 1 40998811 rs6659361 A G 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.8946,G/0.1054;PC=1.000;Gene=ZNF684/NM_152373.3/1;CC=c.-24-4A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:18:0:0:10,12:330,375:0.00,36.53:0.00,21.29:0.00,15.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,31.2:0,0:0,0:47,51:91,98:23,28:-,NM_152373.3(ZNF684) c.-24-4A>G:-,0.1:-,0.15416 1 40998854 . G . . NT END=41006257;NT GT ./. 1 41005960 rs72935461 A G 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.844,G/0.156;PC=0.002;Gene=ZNF684/NM_152373.3/1;CC=c.16-298A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,G:4:4:0:0:1,3:23,89:0.00,9.35:0.00,9.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:136.0,62.7:0,0:0,0:59,81:65,69:0,16:-,NM_152373.3(ZNF684) c.16-298A>G:-,0.16:-,NOT_FOUND 1 41006385 . G . . NT END=41007286;NT GT ./. 1 41007383 . G . . NT END=41012233;NT GT ./. 1 41007403 rs41268073 T A 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.8936,A/0.1064;Gene=ZNF684/NM_152373.3/1;CC=c.238+21T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:36:20:0:0:14,22:483,689:44.56,0.00:12.42,0.00:32.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,9.6:0,0:0,0:93,100:58,50:19,25:NM_152373.3(ZNF684) c.238+21T>A,-:0.11,-:0.156082,- 1 41007539 rs41268075 C T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8936,T/0.1064;PC=0.001;Gene=ZNF684/NM_152373.3/1;CC=c.238+157C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,T:10:0:0:0:5,5:143,129:0.00,12.26:0.00,0.00:0.00,12.26:0.00,0.95:0.00,0.00:0.00,0.95:60,60:14.4,69.8:0,0:0,0:89,103:59,48:6,17:-,NM_152373.3(ZNF684) c.238+157C>T:-,0.11:-,NOT_FOUND 1 41013133 . T . . NT END=41092184;NT GT ./. 1 41013260 rs2297756 C T 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4389,T/0.5611;Gene=ZNF684/NM_152373.3/1;CC=c.*128C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:25:0:0:0:11,1,13:355,10,390:0.00,0.11,37.98:0.00,0.00,0.00:0.00,0.11,37.98:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:0.0,27.0,37.8:0,0,0:0,0,0:122,129,109:29,10,40:21,0,30:-,NM_152373.3(ZNF684) c.*128C>T:-,0.53:-,NOT_FOUND 1 41092402 . C . . NT END=41094481;NT GT ./. 1 41094622 . C . . NT END=41094942;NT GT ./. 1 41095045 . C . . NT END=41098740;NT GT ./. 1 41098854 . C . . NT END=41101587;NT GT ./. 1 41101572 rs2253835 A G 171 nt VT=SNV;PN=C;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.2909,G/0.7091;PC=0.050;Gene=RIMS3/NM_014747.2/1;CC=c.359+16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:112:95:0:0:54,57,1:1737,1771,11:0.00,170.70,-0.10:0.00,105.27,-0.03:0.00,65.44,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.4,38.4,18.0:0,0,0:0,0,0:47,55,111:79,91,40:34,35,0:-,NM_014747.2(RIMS3) c.359+16T>C:-,0.74:-,0.833461 1 41101730 . C . . NT END=41107380;NT GT ./. 1 41107239 rs7535398 G A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.7837,A/0.2163;PC=0.002;Gene=RIMS3/NM_014747.2/1;CC=c.217+142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:10,8:310,281:30.40,0.00:30.40,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:63.4,0.0:0,0:0,0:60,33:91,117:45,24:NM_014747.2(RIMS3) c.217+142C>T,-:0.25,-:NOT_FOUND,- 1 41107360 rs491619 T C 118 nt VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.3021,C/0.6979;Gene=RIMS3/NM_014747.2/1;CC=c.217+21A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:59:0:0:36,30:1206,884:118.06,0.00:93.16,0.00:24.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.8,8.9:0,0:0,0:51,43:90,108:37,24:NM_014747.2(RIMS3) c.217+21A>G,-:0.73,-:0.824312,- 1 41107594 . A . . NT END=41196226;NT GT ./. 1 41107706 rs11208588 C T 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7839,T/0.2161;PC=0.001;Gene=RIMS3/NM_014747.2/1;CC=c.-31-78G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:0:0:0:11,16:335,473:0.00,46.97:0.00,0.00:0.00,46.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.6,45.1:0,0:0,0:102,113:49,34:13,23:-,NM_014747.2(RIMS3) c.-31-78G>A:-,0.25:-,NOT_FOUND 1 41107769 rs60659564 CA C 8 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CA/0.7839,C/0.2161;NP=58;Gene=RIMS3/NM_014747.2/1;CC=c.-31-142delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:CA,C:7:0:0:3:4,3:132,89:0.00,8.25:0.00,0.00:0.00,8.25:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,42.7:0,0:0,0:104,137:46,14:20,1:-,NM_014747.2(RIMS3) c.-31-142delT:-,0.25:-,NOT_FOUND 1 41196279 . G . . NT END=41201272;NT GT ./. 1 41201257 rs6702983 C G 217 nt VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.7099,G/0.2901;Gene=NFYC/NM_001142587.1/0;CC=c.-8-3251C>G;VC=Intron;Gene=NFYC/NM_001142588.1/0;CC=c.-8-3251C>G;VC=Intron;Gene=NFYC/NM_001142589.1/0;CC=c.-8-3251C>G;VC=Intron;Gene=NFYC/NM_014223.4/0;CC=c.-8-3251C>G;VC=Intron;Gene=NFYC/NM_001142590.1/1;CC=c.-8-3251C>G;VC=Intron;Gene=NFYC/NM_001308115.1/0;CC=c.-8-3251C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:49:0:0:58:1892:216.80:156.83:59.97:1.00:1.00:1.00:60:40.3:0:0:74:76:21:NM_001142588.1(NFYC) c.-8-3251C>G,NM_001142588.1(NFYC) c.-8-3251C>G:0.26,0.26:NOT_FOUND,NOT_FOUND 1 41201423 . G . . NT END=41204507;NT GT ./. 1 41204621 . G . . NT END=41213205;NT GT ./. 1 41212962 rs2274957 A G 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7087,G/0.2913;Gene=NFYC/NM_001142587.1/0;CC=c.106-244A>G;VC=Intron;Gene=NFYC/NM_001142588.1/0;CC=c.106-244A>G;VC=Intron;Gene=NFYC/NM_001142589.1/0;CC=c.106-244A>G;VC=Intron;Gene=NFYC/NM_014223.4/0;CC=c.106-244A>G;VC=Intron;Gene=NFYC/NM_001142590.1/1;CC=c.106-244A>G;VC=Intron;Gene=NFYC/NM_001308115.1/0;CC=c.106-244A>G;VC=Intron;Gene=NFYC/NM_001308114.1/0;CC=c.106-244A>G;VC=Intron;DM=NFYC/CBFD_NFYB_HMF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:154:18.23:18.23:0.00:1.00:1.00:0.00:60:91.0:0:0:13:121:4:NM_001142588.1(NFYC) c.106-244A>G,NM_001142588.1(NFYC) c.106-244A>G:0.26,0.26:NOT_FOUND,NOT_FOUND 1 41213278 . G . . NT END=41215244;NT GT ./. 1 41215359 . G . . NT END=41218822;NT GT ./. 1 41218919 . G . . NT END=41223792;NT GT ./. 1 41223967 . G . . NT END=41228559;NT GT ./. 1 41224008 rs16827552 C T 265 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.7087,T/0.2913;Gene=NFYC/NM_001142587.1/0;CC=c.561+42C>T;VC=Intron;Gene=NFYC/NM_001142588.1/0;CC=c.561+42C>T;VC=Intron;Gene=NFYC/NM_001142589.1/0;CC=c.447+42C>T;VC=Intron;Gene=NFYC/NM_014223.4/0;CC=c.561+42C>T;VC=Intron;Gene=NFYC/NM_001142590.1/1;CC=c.561+42C>T;VC=Intron;Gene=NFYC/NM_001308115.1/0;CC=c.561+42C>T;VC=Intron;Gene=NFYC/NM_001308114.1/0;CC=c.561+42C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:72:24:0:0:72:2307:264.97:53.88:211.09:1.00:1.00:1.00:60:41.3:0:0:105:44:28:NM_001142588.1(NFYC) c.561+42C>T,NM_001142588.1(NFYC) c.561+42C>T:0.26,0.26:0.173237,0.173237 1 41228443 rs3767954 C G 102 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.08327,G/0.9167;Gene=NFYC/NM_001142587.1/0;CC=c.562-117C>G;VC=Intron;Gene=NFYC/NM_001142588.1/0;CC=c.562-117C>G;VC=Intron;Gene=NFYC/NM_001142589.1/0;CC=c.448-117C>G;VC=Intron;Gene=NFYC/NM_014223.4/0;CC=c.562-117C>G;VC=Intron;Gene=NFYC/NM_001142590.1/1;CC=c.562-219C>G;VC=Intron;Gene=NFYC/NM_001308115.1/0;CC=c.562-117C>G;VC=Intron;Gene=NFYC/NM_001308114.1/0;CC=c.562-117C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:25:0:0:28:885:101.76:84.92:16.84:1.00:1.00:1.00:60:45.4:0:0:63:87:44:NM_001142588.1(NFYC) c.562-117C>G,NM_001142588.1(NFYC) c.562-117C>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 41228719 . G . . NT END=41232267;NT GT ./. 1 41228898 rs4660454 G A 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.08307,A/0.9169;Gene=NFYC/NM_001142587.1/0;CC=c.720+180G>A;VC=Intron;Gene=NFYC/NM_001142588.1/0;CC=c.720+180G>A;VC=Intron;Gene=NFYC/NM_001142589.1/0;CC=c.606+180G>A;VC=Intron;Gene=NFYC/NM_014223.4/0;CC=c.720+180G>A;VC=Intron;Gene=NFYC/NM_001142590.1/1;CC=c.618+180G>A;VC=Intron;Gene=NFYC/NM_001308115.1/0;CC=c.720+180G>A;VC=Intron;Gene=NFYC/NM_001308114.1/0;CC=c.720+180G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:0:0:0:26:803:92.69:0.00:92.69:1.00:0.00:1.00:60:55.1:0:0:109:41:25:NM_001142588.1(NFYC) c.720+180G>A,NM_001142588.1(NFYC) c.720+180G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 41228960 rs34320811 G A 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6961,A/0.3039;Gene=NFYC/NM_001142587.1/0;CC=c.720+242G>A;VC=Intron;Gene=NFYC/NM_001142588.1/0;CC=c.720+242G>A;VC=Intron;Gene=NFYC/NM_001142589.1/0;CC=c.606+242G>A;VC=Intron;Gene=NFYC/NM_014223.4/0;CC=c.720+242G>A;VC=Intron;Gene=NFYC/NM_001142590.1/1;CC=c.618+242G>A;VC=Intron;Gene=NFYC/NM_001308115.1/0;CC=c.720+242G>A;VC=Intron;Gene=NFYC/NM_001308114.1/0;CC=c.720+242G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:321:36.87:0.00:36.87:1.00:0.00:1.00:60:69.3:0:0:100:49:14:NM_001142588.1(NFYC) c.720+242G>A,NM_001142588.1(NFYC) c.720+242G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 1 41232194 rs34212676 T C 105 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7091,C/0.2909;PC=0.007;Gene=NFYC/NM_001142587.1/0;CC=c.721-74T>C;VC=Intron;Gene=NFYC/NM_001142588.1/0;CC=c.721-74T>C;VC=Intron;Gene=NFYC/NM_001142589.1/0;CC=c.607-74T>C;VC=Intron;Gene=NFYC/NM_014223.4/0;CC=c.721-74T>C;VC=Intron;Gene=NFYC/NM_001142590.1/1;CC=c.619-74T>C;VC=Intron;Gene=NFYC/NM_001308115.1/0;CC=c.721-74T>C;VC=Intron;Gene=NFYC/NM_001308114.1/0;CC=c.721-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:30:0:0:30:906:104.82:89.72:15.11:1.00:1.00:1.00:60:40.4:0:0:55:96:38:NM_001142588.1(NFYC) c.721-74T>C,NM_001142588.1(NFYC) c.721-74T>C:0.26,0.26:NOT_FOUND,NOT_FOUND 1 41232376 . G . . NT END=41232589;NT GT ./. 1 41232647 . G . . NT END=41235027;NT GT ./. 1 41235088 . G . . NT END=41236068;NT GT ./. 1 41236501 . G . . NT END=41249765;NT GT ./. 1 41236581 rs35770732 C A 68 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.9956,A/0.004393;NP=75;PC=1.000;Gene=NFYC/NM_001142587.1/0;CC=c.*81C>A;VC=3UTR;Gene=NFYC/NM_001142588.1/0;CC=c.*81C>A;VC=3UTR;Gene=NFYC/NM_001142589.1/0;CC=c.*81C>A;VC=3UTR;Gene=NFYC/NM_014223.4/0;CC=c.*81C>A;VC=3UTR;Gene=NFYC/NM_001142590.1/1;CC=c.*81C>A;VC=3UTR;Gene=NFYC/NM_001308115.1/0;CC=c.*81C>A;VC=3UTR;Gene=NFYC/NM_001308114.1/0;CC=c.*81C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:46:10:0:0:24,22:708,718:68.34,0.00:5.66,0.00:62.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,2.6:0,0:0,0:128,116:22,34:18,23:NM_001142588.1(NFYC) c.*81C>A,-:0.01,-:NOT_FOUND,- 1 41250080 . G . . NT END=41282936;NT GT ./. 1 41283028 . G . . NT END=41283835;NT GT ./. 1 41283963 . G . . NT END=41284176;NT GT ./. 1 41284353 . G . . NT END=41285018;NT GT ./. 1 41284366 rs2361660 G C 289 nt VT=SNV;PN=A;NN=C;SST=Single;DP=82;DB;DBA=in-clinvar;PAF=G/0.4325,C/0.5675;Gene=KCNQ4/NM_004700.3/1;CC=c.708+14G>C;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.708+14G>C;VC=Intron;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:82:35:0:0:1,81:12,2506:0.18,288.51:0.18,75.37:0.00,213.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,59.7:0,0:0,0:136,103:15,45:0,28:NM_004700.3(KCNQ4) c.708+14G>C,NM_004700.3(KCNQ4) c.708+14G>C:0.57,0.57:0.691697,0.691697 1 41284406 rs2361659 A G 189 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.4331,G/0.5669;Gene=KCNQ4/NM_004700.3/1;CC=c.708+54A>G;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.708+54A>G;VC=Intron;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:G:53:14:0:0:53:1638:188.97:30.35:158.62:1.00:1.00:1.00:60:79.8:0:0:103:48:35:NM_004700.3(KCNQ4) c.708+54A>G,NM_004700.3(KCNQ4) c.708+54A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 41284509 rs2361658 C G 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4383,G/0.5617;Gene=KCNQ4/NM_004700.3/1;CC=c.708+157C>G;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.708+157C>G;VC=Intron;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:3:0:0:16:479:55.50:11.43:44.07:1.00:1.00:1.00:60:129.1:0:0:128:16:12:NM_004700.3(KCNQ4) c.708+157C>G,NM_004700.3(KCNQ4) c.708+157C>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 41284520 rs2361657 A G 42 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4395,G/0.5605;Gene=KCNQ4/NM_004700.3/1;CC=c.708+168A>G;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.708+168A>G;VC=Intron;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,G:13:3:0:0:1,12:11,381:0.00,42.40:0.00,11.43:0.00,30.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:76.0,137.8:0,0:0,0:7,132:144,11:0,17:NM_004700.3(KCNQ4) c.708+168A>G,NM_004700.3(KCNQ4) c.708+168A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 41284527 rs2885330 T G 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4377,G/0.5623;Gene=KCNQ4/NM_004700.3/1;CC=c.708+175T>G;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.708+175T>G;VC=Intron;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:3:0:0:9:271:31.36:11.33:20.03:1.00:1.00:1.00:60:129.1:0:0:99:52:40:NM_004700.3(KCNQ4) c.708+175T>G,NM_004700.3(KCNQ4) c.708+175T>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 41284805 rs3767937 A G 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2542,G/0.7458;PC=0.003;Gene=KCNQ4/NM_004700.3/1;CC=c.709-214A>G;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.709-214A>G;VC=Intron;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:15:0:0:15:430:50.10:50.10:0.00:1.00:1.00:0.00:60:57.9:0:0:37:114:21:NM_004700.3(KCNQ4) c.709-214A>G,NM_004700.3(KCNQ4) c.709-214A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 41284864 rs12145930 G A 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.8674,A/0.1326;Gene=KCNQ4/NM_004700.3/1;CC=c.709-155G>A;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.709-155G>A;VC=Intron;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:24:0:0:24:767:88.11:88.11:0.00:1.00:1.00:0.00:60:52.5:0:0:52:97:34:NM_004700.3(KCNQ4) c.709-155G>A,NM_004700.3(KCNQ4) c.709-155G>A:0.15,0.15:NOT_FOUND,NOT_FOUND 1 41285087 rs4660468 T C 316 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=in-clinvar;PAF=T/0.4367,C/0.5633;Gene=KCNQ4/NM_004700.3/1;CC=c.777T>C;ProtCh=p.A259=;VC=Silent;Gene=KCNQ4/NM_172163.2/0;CC=c.777T>C;ProtCh=p.A259=;VC=Silent;DM=KCNQ4/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:91:58:0:0:91:2734:316.40:147.46:168.94:1.00:1.00:1.00:60:39.6:0:0:85:63:30:NM_004700.3(KCNQ4) c.777T>C (p.(=)),NM_004700.3(KCNQ4) c.777T>C (p.(=)):0.56,0.56:0.676303,0.676303 1 41285145 . G . . NT END=41285546;NT GT ./. 1 41285658 . G . . NT END=41285836;NT GT ./. 1 41285933 . G . . NT END=41287985;NT GT ./. 1 41288075 . G . . NT END=41289768;NT GT ./. 1 41288102 rs376712113 T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.996,G/0.003994;NP=6;Gene=KCNQ4/NM_004700.3/1;CC=c.1130+28T>G;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1130+28T>G;VC=Intron;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:G,T:21:12:0:0:4,17:102,385:7.70,0.00:-1.09,0.00:8.78,0.00:0.70,0.00:0.87,0.00:0.80,0.00:60,60:69.8,14.1:0,0:0,0:42,129:80,22:21,21:NM_004700.3(KCNQ4) c.1130+28T>G,-:NOT_FOUND,-:0.000388,- 1 41289579 rs3767939 C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.752,T/0.248;PC=0.084;Gene=KCNQ4/NM_004700.3/1;CC=c.1131-190C>T;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1130+1505C>T;VC=Intron;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:13:0:0:6,7:196,210:0.00,20.42:0.00,20.42:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:11.8,32.9:0,0:0,0:40,44:111,103:34,31:-,NM_004700.3(KCNQ4) c.1131-190C>T:-,0.28:-,NOT_FOUND 1 41289931 . G . . NT END=41296755;NT GT ./. 1 41289993 rs3767940 T C 97 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.6907,C/0.3093;PC=0.998;Gene=KCNQ4/NM_004700.3/1;CC=c.1292+63T>C;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1130+1919T>C;VC=Intron;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:15:0:0:30,29:1003,937:96.85,0.00:14.42,0.00:82.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,10.4:0,0:0,0:120,118:30,33:23,17:NM_004700.3(KCNQ4) c.1292+63T>C,-:0.32,-:NOT_FOUND,- 1 41296828 rs34287852 T G 174 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=123;DB;DBA=in-clinvar;PAF=T/0.906,G/0.09405;PC=0.995;Gene=KCNQ4/NM_004700.3/1;CC=c.1365T>G;ProtCh=p.H455Q;VC=Missense;Gene=KCNQ4/NM_172163.2/0;CC=c.1203T>G;ProtCh=p.H401Q;VC=Missense;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:123:89:0:0:54,69:1853,2196:174.47,0.00:70.63,0.00:103.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,7.4:0,0:0,0:60,66:90,83:38,31:NM_004700.3(KCNQ4) c.1365T>G (p.His455Gln),-:0.11,-:0.175127,- 1 41296977 . G . . NT END=41298685;NT GT ./. 1 41298546 rs5773705 G GC 62 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.07867,GC/0.9213;DB;DBA=NA;PAF=G/0.07867,GC/0.9213;DB;DBA=NA;PAF=G/0.07867,GC/0.9213;NP=2115;PC=0.582;Gene=KCNQ4/NM_004700.3/1;CC=c.1514-136dupC;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1352-136dupC;VC=Intron;DM=KCNQ4/KCNQ_channel;DM=KCNQ4/KCNQ_channel;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:GC:17:17:17:0:17:535:61.60:61.60:0.00:1.00:1.00:0.00:60:10.6:0:0:59:92:22:NM_004700.3(KCNQ4) c.1514-140_1514-139insC,NM_004700.3(KCNQ4) c.1514-140_1514-139insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 41298652 rs913378 T C 73 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.2614,C/0.7386,G/.;Gene=KCNQ4/NM_004700.3/1;CC=c.1514-34T>C;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1352-34T>C;VC=Intron;DM=KCNQ4/KCNQ_channel;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:30:0:0:24,15:730,490:73.00,0.00:46.63,0.00:26.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,10.5:0,0:0,0:35,42:112,108:22,9:NM_004700.3(KCNQ4) c.1514-34T>C,-:0.71,-:0.669614,- 1 41298786 . G . . NT END=41300638;NT GT ./. 1 41300422 rs72661521 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9401,T/0.0599;Gene=KCNQ4/NM_004700.3/1;CC=c.1614-217C>T;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1452-217C>T;VC=Intron;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:8:8:0:0:4,4:133,117:0.00,11.20:0.00,11.20:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:12.8,43.0:0,0:0,0:15,73:135,78:6,40:-,NM_004700.3(KCNQ4) c.1614-217C>T:-,0.05:-,NOT_FOUND 1 41300771 . G . . NT END=41303336;NT GT ./. 1 41301019 rs729589 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5058,C/0.4942;Gene=KCNQ4/NM_004700.3/1;CC=c.1745+249T>C;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1583+249T>C;VC=Intron;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,T:9:0:0:0:3,6:92,206:8.14,0.00:0.00,0.00:8.14,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:38.0,50.7:0,0:0,0:113,82:37,68:0,29:NM_004700.3(KCNQ4) c.1745+249T>C,-:0.51,-:NOT_FOUND,- 1 41301034 rs727334 G C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8628,C/0.1372;Gene=KCNQ4/NM_004700.3/1;CC=c.1745+264G>C;VC=Intron;Gene=KCNQ4/NM_172163.2/0;CC=c.1583+264G>C;VC=Intron;DM=KCNQ4/KCNQ_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,G:8:0:0:0:5,3:174,81:17.50,0.00:0.00,0.00:17.50,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:60.8,38.0:0,0:0,0:91,128:60,22:15,0:NM_004700.3(KCNQ4) c.1745+264G>C,-:0.11,-:NOT_FOUND,- 1 41303467 . G . . NT END=41303982;NT GT ./. 1 41304196 . G . . NT END=41327244;NT GT ./. 1 41327800 . G . . NT END=41447658;NT GT ./. 1 41447667 . G . . NT END=41448949;NT GT ./. 1 41449129 . G . . NT END=41450492;NT GT ./. 1 41449302 rs72663731 T C 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8798,C/0.1202;PC=0.001;Gene=CTPS1/NM_001905.3/1;CC=c.166+174T>C;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;DM=CTPS1/CTP_synth_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,T:9:0:0:0:7,2:240,65:25.27,0.00:0.00,0.00:25.27,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.4,0.0:0,0:0,0:127,143:24,6:7,0:NM_001905.2(CTPS1) c.166+174T>C,-:0.11,-:NOT_FOUND,- 1 41450664 . G . . NT END=41453043;NT GT ./. 1 41450911 rs6600362 T C 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2328,C/0.7672;Gene=CTPS1/NM_001905.3/1;CC=c.337+248T>C;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;DM=CTPS1/CTP_synth_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:202:23.06:0.00:23.06:1.00:0.00:1.00:60:38.0:0:0:101:49:8:NM_001905.2(CTPS1) c.337+248T>C,NM_001905.2(CTPS1) c.337+248T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 41452880 rs12044786 G A 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7242,A/0.2758;Gene=CTPS1/NM_001905.3/1;CC=c.338-164G>A;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;DM=CTPS1/CTP_synth_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:A,G:10:10:0:0:7,3:198,80:20.49,0.00:20.75,0.00:-0.26,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:80.1,50.0:0,0:0,0:50,61:101,90:28,47:NM_001905.2(CTPS1) c.338-164G>A,-:0.28,-:NOT_FOUND,- 1 41453145 . G . . NT END=41454265;NT GT ./. 1 41453286 rs5773721 GT G 39 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GT/0.1108,G/0.8892;DB;DBA=NA;PAF=GT/0.1108,G/0.8892;NP=1328;Gene=CTPS1/NM_001905.3/1;CC=c.438+144delT;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;DM=CTPS1/CTP_synth_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:GT,G:12:0:0:11:1,11:32,350:0.00,38.75:0.00,0.00:0.00,38.75:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,6.2:0,0:0,0:150,38:1,103:0,18:-,NM_001905.2(CTPS1) c.438+143delT:-,0.89:-,NOT_FOUND 1 41454383 . G . . NT END=41456836;NT GT ./. 1 41454425 rs6675122 G A 126 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8488,A/0.1512;Gene=CTPS1/NM_001905.3/1;CC=c.555+43G>A;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.87+43G>A;VC=Intron;DM=CTPS1/CTP_synth_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:7:0:0:32:1108:126.06:13.77:112.29:1.00:1.00:1.00:60:37.5:0:0:94:56:39:NM_001905.2(CTPS1) c.555+43G>A,NM_001905.2(CTPS1) c.555+43G>A:0.17,0.17:0.229663,0.229663 1 41456689 rs11209331 T C 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6422,C/0.3578;Gene=CTPS1/NM_001905.3/1;CC=c.556-148T>C;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.88-148T>C;VC=Intron;DM=CTPS1/CTP_synth_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:365:41.75:41.75:0.00:1.00:1.00:0.00:60:43.5:0:0:24:127:18:NM_001905.2(CTPS1) c.556-148T>C,NM_001905.2(CTPS1) c.556-148T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 1 41456808 rs386366777 C CT 17 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;Gene=CTPS1/NM_001905.3/1;CC=c.556-15dupT;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.88-15dupT;VC=Intron;DM=CTPS1/CTP_synth_N;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:C,CT,D:33:32:8:1:25,7,1:813,245,29:0.00,17.24,1.53:0.00,11.21,0.68:0.00,6.03,0.85:0.00,0.95,0.00:0.00,1.00,0.00:0.00,0.94,0.00:60,70,60:21.2,63.6,33.0:0,1,0:0,0,0:36,35,130:92,114,21:25,18,0:-,NM_001905.2(CTPS1) c.556-29_556-28insT:-,NOT_FOUND:-,NOT_FOUND 1 41456921 . G . . NT END=41457436;NT GT ./. 1 41457518 . G . . NT END=41461588;NT GT ./. 1 41457693 rs61780429 T A 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9101,A/0.08986;Gene=CTPS1/NM_001905.3/1;CC=c.720+176T>A;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.252+176T>A;VC=Intron;DM=CTPS1/CTP_synth_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:117:13.61:0.00:13.61:1.00:0.00:1.00:60:29.2:0:0:132:17:5:NM_001905.2(CTPS1) c.720+176T>A,NM_001905.2(CTPS1) c.720+176T>A:0.11,0.11:NOT_FOUND,NOT_FOUND 1 41461741 . G . . NT END=41463065;NT GT ./. 1 41463199 . G . . NT END=41466700;NT GT ./. 1 41466550 rs12735455 T A 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6667,A/0.3333;PC=0.038;Gene=CTPS1/NM_001905.3/1;CC=c.1006-151T>A;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.538-151T>A;VC=Intron;DM=CTPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:294:33.69:33.69:0.00:1.00:1.00:0.00:60:46.1:0:0:29:122:22:NM_001905.2(CTPS1) c.1006-151T>A,NM_001905.2(CTPS1) c.1006-151T>A:0.36,0.36:NOT_FOUND,NOT_FOUND 1 41466790 . G . . NT END=41467831;NT GT ./. 1 41466803 rs12718433 G A 169 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.6669,A/0.3331;Gene=CTPS1/NM_001905.3/1;CC=c.1094+14G>A;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.626+14G>A;VC=Intron;DM=CTPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:23:0:0:46:1467:168.61:62.80:105.81:1.00:1.00:1.00:60:44.8:0:0:105:43:21:NM_001905.2(CTPS1) c.1094+14G>A,NM_001905.2(CTPS1) c.1094+14G>A:0.36,0.36:0.333231,0.333231 1 41467927 . G . . NT END=41468785;NT GT ./. 1 41468849 . G . . NT END=41471722;NT GT ./. 1 41471767 . G . . NT END=41473120;NT GT ./. 1 41473218 . G . . NT END=41474330;NT GT ./. 1 41474387 . G . . NT END=41474465;NT GT ./. 1 41474563 . G . . NT END=41475116;NT GT ./. 1 41475085 rs12144160 A G 189 nt VT=SNV;PN=A;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.5321,G/0.4679;Gene=CTPS1/NM_001905.3/1;CC=c.1547-32A>G;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.1079-32A>G;VC=Intron;DM=CTPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A,G:54:52:0:0:1,53:10,1654:0.00,188.82:0.00,153.00:0.00,35.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:141.0,46.0:0,0:0,0:103,65:48,78:0,33:NM_001905.2(CTPS1) c.1547-32A>G,NM_001905.2(CTPS1) c.1547-32A>G:0.49,0.49:0.462402,0.462402 1 41475262 . G . . NT END=41475832;NT GT ./. 1 41475571 rs61780435 C T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9105,T/0.08946;Gene=CTPS1/NM_001905.3/1;CC=c.1692-262C>T;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.1224-262C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:2:0:0:6:200:22.86:7.55:15.31:1.00:1.00:1.00:60:37.8:0:0:83:66:47:NM_001905.2(CTPS1) c.1692-262C>T,NM_001905.2(CTPS1) c.1692-262C>T:0.11,0.11:NOT_FOUND,NOT_FOUND 1 41475918 . T . . NT END=41481777;NT GT ./. 1 41476180 rs61780436 G T 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9099,T/0.09006;PC=0.001;Gene=CTPS1/NM_001905.3/1;CC=c.*9+254G>T;VC=Intron;Gene=CTPS1/NR_125440.1/0;VC=NonCoding;Gene=CTPS1/NM_001301237.1/0;CC=c.*9+254G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:54.7:0:0:125:25:22:NM_001905.2(CTPS1) c.*9+254G>T,NM_001905.2(CTPS1) c.*9+254G>T:0.11,0.11:NOT_FOUND,NOT_FOUND 1 41481901 . C . . NT END=41482905;NT GT ./. 1 41482660 rs61780438 G A 56 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9111,A/0.08886;Gene=SLFNL1-AS1/NR_037868.1/0;VC=NonCoding;Gene=SLFNL1/NM_001168247.2/1;CC=c.1101+246C>T;VC=Intron;Gene=SLFNL1/NM_001300859.1/0;CC=c.924+246C>T;VC=Intron;Gene=SLFNL1/NM_144990.3/0;CC=c.1101+246C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:17:0:0:17:483:56.31:54.33:1.99:1.00:1.00:1.00:60:67.4:0:0:81:69:28:NR_037868.1(SLFNL1-AS1) n.2399G>A,NR_037868.1(SLFNL1-AS1) n.2399G>A:0.11,0.11:NOT_FOUND,NOT_FOUND 1 41483050 . C . . NT END=41483306;NT GT ./. 1 41483829 . c . . NT END=41485897;NT GT ./. 1 41483951 rs11209361 G C 100 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.8181,C/0.1819;Gene=SLFNL1-AS1/NR_037868.1/0;VC=NonCoding;Gene=SLFNL1/NM_001168247.2/1;CC=c.436-123C>G;VC=Intron;Gene=SLFNL1/NM_001300859.1/0;CC=c.436-300C>G;VC=Intron;Gene=SLFNL1/NM_144990.3/0;CC=c.436-123C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:3:0:0:28:868:100.10:6.12:93.98:1.00:1.00:1.00:60:43.3:0:0:94:56:42:NR_037868.1(SLFNL1-AS1) n.3690G>C,NR_037868.1(SLFNL1-AS1) n.3690G>C:0.2,0.2:NOT_FOUND,NOT_FOUND 1 41485902 rs3738368 C G 360 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.8179,G/0.1821;PC=0.301;Gene=SLFNL1-AS1/NR_037868.1/0;VC=NonCoding;Gene=SLFNL1/NM_001168247.2/1;CC=c.431G>C;ProtCh=p.R144T;VC=Missense;Gene=SLFNL1/NM_001300859.1/0;CC=c.431G>C;ProtCh=p.R144T;VC=Missense;Gene=SLFNL1/NM_144990.3/0;CC=c.431G>C;ProtCh=p.R144T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:97:90:0:0:96,1:3143,19:359.59,0.52:272.44,0.00:87.15,0.52:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,165.0:0,0:0,0:46,23:100,126:28,0:NM_001168247.1(SLFNL1) c.431G>C (p.Arg144Thr),NM_001168247.1(SLFNL1) c.431G>C (p.Arg144Thr):0.2,0.2:0.228664,0.228664 1 41486245 rs1138293 C T 509 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.9115,T/0.08846;Gene=SLFNL1-AS1/NR_037868.1/0;VC=NonCoding;Gene=SLFNL1/NM_001168247.2/1;CC=c.88G>A;ProtCh=p.A30T;VC=Missense;Gene=SLFNL1/NM_001300859.1/0;CC=c.88G>A;ProtCh=p.A30T;VC=Missense;Gene=SLFNL1/NM_144990.3/0;CC=c.88G>A;ProtCh=p.A30T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:140:75:0:0:2,138:21,4445:0.31,509.34:0.11,184.81:0.21,324.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:71.0,40.2:0,0:0,0:134,78:17,72:6,36:NM_001168247.1(SLFNL1) c.88G>A (p.Ala30Thr),NM_001168247.1(SLFNL1) c.88G>A (p.Ala30Thr):0.11,0.11:0.145109,0.145109 1 41486333 . G . . NT END=41493865;NT GT ./. 1 41486600 rs202184637 C CAG 19 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=15;Gene=SLFNL1-AS1/NR_037868.1/0;VC=NonCoding;Gene=SLFNL1/NM_001168247.2/1;CC=c.-184_-183insCT;VC=5UTR;Gene=SLFNL1/NM_001300859.1/0;CC=c.-184_-183insCT;VC=5UTR;Gene=SLFNL1/NM_144990.3/0;CC=c.-126-143_-126-142insCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CAG:5:0:5:0:5:163:18.68:0.00:18.68:1.00:0.00:1.00:60:3.4:0:0:120:31:16:NM_001168247.1(SLFNL1) c.-184_-183insCT,NM_001168247.1(SLFNL1) c.-184_-183insCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 41493749 rs11555079 G A 105 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9111,A/0.08886;PC=0.906;Gene=SLFNL1-AS1/NR_037868.1/0;VC=NonCoding;Gene=SCMH1/NM_001172222.1/0;CC=c.*117C>T;VC=3UTR;Gene=SCMH1/NM_001031694.2/1;CC=c.*117C>T;VC=3UTR;Gene=SCMH1/NM_001172221.1/0;CC=c.*117C>T;VC=3UTR;Gene=SCMH1/NM_001172218.1/0;CC=c.*117C>T;VC=3UTR;Gene=SCMH1/NM_001172219.1/0;CC=c.*117C>T;VC=3UTR;Gene=SCMH1/NM_001172220.1/0;CC=c.*117C>T;VC=3UTR;Gene=SCMH1/NM_012236.3/0;CC=c.*117C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:27:0:0:28:918:105.15:95.31:9.84:1.00:1.00:1.00:60:41.4:0:0:43:106:27:NM_001031694.2(SCMH1) c.*117C>T,NM_001031694.2(SCMH1) c.*117C>T:0.11,0.11:NOT_FOUND,NOT_FOUND 1 41493992 . C . . NT END=41494255;NT GT ./. 1 41494222 rs11578697 G T 268 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.5761,T/0.4239;Gene=SLFNL1-AS1/NR_037868.1/0;VC=NonCoding;Gene=SCMH1/NM_001172222.1/0;CC=c.1317+34C>A;VC=Intron;Gene=SCMH1/NM_001031694.2/1;CC=c.1857+34C>A;VC=Intron;Gene=SCMH1/NM_001172221.1/0;CC=c.1674+34C>A;VC=Intron;Gene=SCMH1/NM_001172218.1/0;CC=c.1608+34C>A;VC=Intron;Gene=SCMH1/NM_001172219.1/0;CC=c.1821+34C>A;VC=Intron;Gene=SCMH1/NM_001172220.1/0;CC=c.1608+34C>A;VC=Intron;Gene=SCMH1/NM_012236.3/0;CC=c.1650+34C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:78:64:0:0:1,77:13,2336:0.00,267.96:0.00,191.00:0.00,76.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.0,44.7:0,0:0,0:15,46:136,98:0,24:NR_037868.1(SLFNL1-AS1) n.3830G>T,NR_037868.1(SLFNL1-AS1) n.3830G>T:0.44,0.44:0.401738,0.401738 1 41494399 . C . . NT END=41503033;NT GT ./. 1 41503214 . C . . NT END=41512078;NT GT ./. 1 41512271 . C . . NT END=41514361;NT GT ./. 1 41514563 . C . . NT END=41536266;NT GT ./. 1 41536394 . C . . NT END=41540890;NT GT ./. 1 41541124 . C . . NT END=41578954;NT GT ./. 1 41579199 . C . . NT END=41582593;NT GT ./. 1 41582683 . C . . NT END=41608549;NT GT ./. 1 41608785 . C . . NT END=41617285;NT GT ./. 1 41617357 . C . . NT END=41618270;NT GT ./. 1 41618414 . C . . NT END=41625396;NT GT ./. 1 41625606 . c . . NT END=41626546;NT GT ./. 1 41626571 . C . . NT END=41627035;NT GT ./. 1 41627190 . t . . NT END=41651792;NT GT ./. 1 41651806 . a . . NT END=41827602;NT GT ./. 1 41781151 rs1892419 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8311,C/0.1689 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:125:14.41:9.04:5.36:1.00:1.00:1.00:60:31.2:0:0:48:102:23:chr1 g.41781150T>C (intergenic),chr1 g.41781150T>C (intergenic):0.19,0.19:NOT_FOUND,NOT_FOUND 1 41828017 . G . . NT END=41847287;NT GT ./. 1 41848060 rs12092825 C T 413 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.007;Gene=FOXO6/NM_001291281.2/1;CC=c.1187C>T;ProtCh=p.A396V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:120:92:0:0:120:3560:412.77:247.63:165.14:1.00:1.00:1.00:60:42.4:0:0:61:86:35:XM_002342102.4(FOXO6) c.1429C>T (p.Pro477Ser),XM_002342102.4(FOXO6) c.1429C>T (p.Pro477Ser):0.41,0.41:NOT_FOUND,NOT_FOUND 1 41848296 rs4359027 G A 371 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.6132,A/0.3868;PC=0.001;Gene=FOXO6/NM_001291281.2/1;CC=c.1423G>A;ProtCh=p.A475T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:118:72:0:0:113,2,3:3234,29,38:370.94,0.79,0.00:182.77,0.00,0.00:188.17,0.79,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.1,34.0,45.7:0,0,0:0,0,0:72,58,85:73,91,66:31,1,20:XM_002342102.4(FOXO6) c.1665G>A (p.(=)),XM_002342102.4(FOXO6) c.1665G>A (p.(=)):0.42,0.42:NOT_FOUND,NOT_FOUND 1 41848353 . A . . NT END=41945079;NT GT ./. 1 41848567 rs145530493 C T 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.994,T/0.00599;PC=0.010;Gene=FOXO6/NM_001291281.2/1;CC=c.*214C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,T:10:0:0:0:7,3:238,79:0.00,6.67:0.00,0.00:0.00,6.67:0.00,0.62:0.00,0.00:0.00,0.62:60,60:1.6,34.3:0,0:0,0:108,88:43,63:37,8:-,chr1 g.41848566C>T (intergenic):-,0.01:-,NOT_FOUND 1 41861186 rs145399510 A AGTGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.637,AGTGTGT/.,AGTGTGTGT/.,AGTGTGTGTGT/.,AGTGTGTGTGTGT/.,AGTGTGTGTGTGTGTGT/0.363;NP=10;NP=2;PC=0.186;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,AGTGTGT:3:2:3:0:1,2:35,95:0.00,6.55:0.00,3.28:0.00,3.27:0.00,0.51:0.00,0.79:0.00,0.79:60,60:0.0,14.5:0,1:0,0:121,53:30,98:0,24:-,chr1 g.41861186_41861187insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 41945174 . C . . NT END=41946765;NT GT ./. 1 41946865 . C . . NT END=41948136;NT GT ./. 1 41948260 . C . . NT END=41949717;NT GT ./. 1 41949595 rs2759256 G A 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.004792,A/0.9952;NP=816;Gene=EDN2/NM_001302269.1/0;CC=c.221+123C>T;VC=Intron;Gene=EDN2/NM_001956.4/1;CC=c.221+123C>T;VC=Intron;Gene=EDN2/NR_126098.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:23:0:0:23:750:85.97:85.97:0.00:1.00:1.00:0.00:60:73.8:0:0:52:99:35:NM_001956.3(EDN2) c.221+123C>T,NM_001956.3(EDN2) c.221+123C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 41949628 rs2759257 A C 130 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.1767,C/0.8233;Gene=EDN2/NM_001302269.1/0;CC=c.221+90T>G;VC=Intron;Gene=EDN2/NM_001956.4/1;CC=c.221+90T>G;VC=Intron;Gene=EDN2/NR_126098.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A,C:36:35:0:0:1,35:20,1148:0.00,129.53:0.00,125.19:0.00,4.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:60.0,74.9:0,0:0,0:21,44:130,104:0,33:NM_001956.3(EDN2) c.221+90T>G,NM_001956.3(EDN2) c.221+90T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 41949875 . C . . NT END=41950208;NT GT ./. 1 41950273 . A . . NT END=42094419;NT GT ./. 1 41950312 rs2984691 T C 297 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.103,C/0.897;PC=0.003;Gene=EDN2/NM_001302269.1/0;CC=c.-40A>G;VC=5UTR;Gene=EDN2/NM_001956.4/1;CC=c.-40A>G;VC=5UTR;Gene=EDN2/NR_126098.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:80:42:0:0:80:2593:297.41:106.48:190.93:1.00:1.00:1.00:60:40.4:0:0:91:51:22:NM_001956.3(EDN2) c.-40A>G,NM_001956.3(EDN2) c.-40A>G:0.92,0.92:0.922758,0.922758 1 42010401 rs12123976 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.524,T/0.476;NP=53;Gene=HIVEP3/NM_001127714.2/0;CC=c.5208-19820G>A;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.5208-19820G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:C,T:7:6:0:0:2,5:47,151:0.00,15.66:0.00,12.35:0.00,3.31:0.00,0.98:0.00,1.00:0.00,0.98:60,60:56.5,118.4:0,0:0,0:67,36:83,115:20,26:-,NM_024503.4(HIVEP3) c.5208-19820G>A:-,NOT_FOUND:-,NOT_FOUND 1 42010489 rs150978170 T A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=21;PC=0.002;Gene=HIVEP3/NM_001127714.2/0;CC=c.5208-19908A>T;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.5208-19908A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,T:6:6:0:1:3,3:92,94:8.82,0.00:7.84,0.00:0.99,0.00:0.73,0.00:0.73,0.00:0.51,0.00:60,60:154.3,146.3:1,0:0,0:108,18:42,97:16,0:NM_024503.4(HIVEP3) c.5208-19908A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 42010499 . CCAT C 8 nt VT=DEL;SST=Single;DP=7;PC=0.001;Gene=HIVEP3/NM_001127714.2/0;CC=c.5208-19921_5208-19919delATG;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.5208-19921_5208-19919delATG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:CCAT,C:7:7:0:4:4,3:131,88:0.00,8.15:0.00,5.61:0.00,2.54:0.00,0.69:0.00,0.69:0.00,0.93:60,60:114.5,158.7:0,0:0,0:64,134:68,17:36,0:-,NM_024503.4(HIVEP3) c.5208-19921_5208-19919delATG:-,NOT_FOUND:-,NOT_FOUND 1 42010581 rs200945442 T C 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;NP=3;PC=0.001;Gene=HIVEP3/NM_001127714.2/0;CC=c.5208-20000A>G;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.5208-20000A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:C,T,I:5:4:1:0:2,2,1:66,64,31:6.31,0.00,2.68:1.42,0.00,1.34:4.90,0.00,1.34:0.46,0.00,0.00:0.87,0.00,0.00:0.46,0.00,0.00:42,60,31:219.5,110.5,67.0:0,0,0:0,0,0:31,80,31:116,12,59:12,27,0:NM_024503.4(HIVEP3) c.5208-20000A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 42031206 rs74069932 C G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.894,G/0.106;PC=0.003;Gene=HIVEP3/NM_001127714.2/0;CC=c.5207+10009G>C;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.5207+10009G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:4:1:0:0:2,2:68,70:0.00,6.75:0.00,1.89:0.00,4.86:0.00,0.51:0.00,0.67:0.00,0.51:69,60:129.5,57.0:2,0:0,0:110,96:23,25:4,27:-,NM_024503.4(HIVEP3) c.5207+10009G>C:-,0.13:-,NOT_FOUND 1 42090726 rs10749839 T C 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4277,C/0.5723;PC=0.001;Gene=HIVEP3/NM_001127714.2/0;CC=c.-522+3694A>G;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.-522+3694A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:C,T:4:3:0:0:3,1:101,20:10.56,0.00:5.08,0.00:5.48,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,44:56.3,116.0:0,2:0,0:93,130:57,20:35,0:NM_024503.4(HIVEP3) c.-522+3694A>G,-:0.53,-:NOT_FOUND,- 1 42094498 rs2038976 A G 450 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.4046,G/0.5954;PC=0.075;Gene=HIVEP3/NM_001127714.2/0;CC=c.-600T>C;VC=5UTR;Gene=HIVEP3/NM_024503.4/1;CC=c.-600T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:118:85:0:0:117,1:3948,12:449.99,0.13:236.42,0.00:213.57,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,25.0:0,0:0,0:67,53:72,97:34,0:NM_024503.4(HIVEP3) c.-600T>C,NM_024503.4(HIVEP3) c.-600T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 42094619 . C . . NT END=42166586;NT GT ./. 1 42094659 rs2038977 T C 183 nt VT=SNV;PN=T;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.3984,C/0.6016;Gene=HIVEP3/NM_001127714.2/0;CC=c.-720-41A>G;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.-720-41A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:C:54:19:0:0:54:1575:182.96:45.77:137.19:1.00:1.00:1.00:60:47.5:0:0:103:46:23:NM_024503.4(HIVEP3) c.-720-41A>G,NM_024503.4(HIVEP3) c.-720-41A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 42094719 rs2038978 A G 88 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.6004,G/0.3996;Gene=HIVEP3/NM_001127714.2/0;CC=c.-720-101T>C;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.-720-101T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:1:0:0:24:763:87.71:3.88:83.83:1.00:1.00:1.00:60:72.5:0:0:97:53:34:NM_024503.4(HIVEP3) c.-720-101T>C,NM_024503.4(HIVEP3) c.-720-101T>C:0.41,0.41:NOT_FOUND,NOT_FOUND 1 42166667 . C . . NT END=42619121;NT GT ./. 1 42166782 rs41269479 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7548,A/0.2452;PC=0.001;Gene=HIVEP3/NM_001127714.2/0;CC=c.-720-72164C>T;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.-800-116C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:9:0:0:0:6,3:186,97:18.95,0.00:0.00,0.00:18.95,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:63.0,0.0:0,0:0,0:70,71:72,80:17,8:NM_024503.4(HIVEP3) c.-800-116C>T,-:0.24,-:NOT_FOUND,- 1 42256792 rs112437801 TACACAC T 7 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;Gene=HIVEP3/NM_001127714.2/0;CC=c.-721+127286_-721+127291delGTGTGT;VC=Intron;Gene=HIVEP3/NM_024503.4/1;CC=c.-800-90132_-800-90127delGTGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:TACACAC,I,T:6:4:1:3:2,1,3:61,33,70:0.00,2.84,6.75:0.00,1.46,6.90:0.00,1.38,-0.15:0.00,0.00,0.73:0.00,0.00,0.51:0.00,0.00,0.51:60,60,60:39.5,32.0,3.7:0,0,0:0,0,0:42,36,35:95,112,107:39,0,13:-,NM_024503.4(HIVEP3) c.-800-90132_-800-90127delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 42440157 rs60305867 T TACACACAC 9 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=2;NP=2;NP=23;Gene=HIVEP3/NR_038261.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:T,TACACACAC:5:5:6:0:2,3:59,179:0.00,9.45:0.00,4.77:0.00,4.67:0.00,0.67:0.00,0.90:0.00,0.85:60,60:0.0,55.0:0,3:0,0:120,37:29,113:24,15:-,NR_038261.1(HIVEP3) n.120-55963_120-55962insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 42513506 rs12041198 T A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2684,A/0.7316;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:135:15.41:9.64:5.77:1.00:1.00:1.00:60:63.8:0:0:66:78:20:chr1 g.42513505T>A (intergenic),chr1 g.42513505T>A (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 1 42513551 rs12043572 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5491,A/0.4509;PC=0.923 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:134:15.31:5.82:9.49:1.00:1.00:1.00:60:64.0:0:0:91:40:20:chr1 g.42513550G>A (intergenic),chr1 g.42513550G>A (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 1 42619212 . G . . NT END=42620350;NT GT ./. 1 42620154 rs885846 A G 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6148,G/0.3852;Gene=GUCA2B/NM_007102.2/1;CC=c.91-197A>G;VC=Intron;DM=GUCA2B/Guanylin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:181:21.37:21.37:0.00:1.00:1.00:0.00:60:38.1:0:0:51:100:23:NM_007102.2(GUCA2B) c.91-197A>G,NM_007102.2(GUCA2B) c.91-197A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 42620538 . G . . NT END=42621205;NT GT ./. 1 42621268 . G . . NT END=42628576;NT GT ./. 1 42624243 . AGTGTGTGT A 8 nt VT=DEL;SST=Single;DP=5;NP=15;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:AGTGTGTGT,A:5:5:0:4:2,3:68,77:0.00,7.63:0.00,4.17:0.00,3.46:0.00,0.78:0.00,0.78:0.00,0.94:60,60:0.0,16.0:0,0:0,0:89,50:37,97:20,39:-,chr1 g.42624244_42624251delGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 42628642 . C . . NT END=42629073;NT GT ./. 1 42629040 rs2232224 A G 121 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.08307,G/0.9169;Gene=GUCA2A/NM_033553.2/1;CC=c.283+34T>C;VC=Intron;DM=GUCA2A/Guanylin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:28:0:0:33:1051:120.77:86.17:34.59:1.00:1.00:1.00:60:41.9:0:0:41:110:26:NM_033553.2(GUCA2A) c.283+34T>C,NM_033553.2(GUCA2A) c.283+34T>C:0.93,0.93:0.916333,0.916333 1 42629282 . C . . NT END=42630308;NT GT ./. 1 42630364 rs2071499 G A 220 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.615,A/0.385;PC=0.002;Gene=GUCA2A/NM_033553.2/1;CC=c.20C>T;ProtCh=p.S7F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:41:0:0:60:1912:219.60:103.54:116.06:1.00:1.00:1.00:60:39.9:0:0:81:61:26:NM_033553.2(GUCA2A) c.20C>T (p.Ser7Phe),NM_033553.2(GUCA2A) c.20C>T (p.Ser7Phe):0.46,0.46:0.45,0.45 1 42630384 . G . . NT END=42645380;NT GT ./. 1 42638163 rs12045477 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7975,T/0.2025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:130:14.91:7.85:7.05:1.00:1.00:1.00:60:50.8:0:0:98:52:13:chr1 g.42638162C>T (intergenic),chr1 g.42638162C>T (intergenic):0.23,0.23:NOT_FOUND,NOT_FOUND 1 42645497 . C . . NT END=42647587;NT GT ./. 1 42647536 . TCA T 9 rn VT=DEL;SST=Single;DP=27;NP=25;Gene=FOXJ3/NM_001198851.1/1;CC=c.1753+50_1753+51delTG;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.1651+50_1651+51delTG;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.1753+50_1753+51delTG;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.1753+50_1753+51delTG;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:TCA,I,T:26:25:2:4:21,1,4:669,67,120:0.00,2.00,9.13:0.00,2.07,6.36:0.00,-0.07,2.77:0.00,0.00,0.66:0.00,0.00,0.95:0.00,0.00,0.67:60,60,60:20.8,24.0,3.0:0,1,0:0,0,0:77,56,109:74,94,42:36,36,3:-,NM_001198851.1(FOXJ3) c.1753+50_1753+51delTG:-,NOT_FOUND:-,NOT_FOUND 1 42647696 . C . . NT END=42654407;NT GT ./. 1 42647914 rs624614 A G 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1989,G/0.8011;PC=0.002;Gene=FOXJ3/NM_001198851.1/1;CC=c.1646-219T>C;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.1544-219T>C;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.1646-219T>C;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.1646-219T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:199:22.76:0.00:22.76:1.00:0.00:1.00:60:33.2:0:0:88:62:29:NM_001198851.1(FOXJ3) c.1646-219T>C,NM_001198851.1(FOXJ3) c.1646-219T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 42654600 . C . . NT END=42654973;NT GT ./. 1 42655076 . C . . NT END=42656973;NT GT ./. 1 42656819 rs16829212 T A 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6028,A/0.3972;Gene=FOXJ3/NM_001198851.1/1;CC=c.1351+155A>T;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.1249+155A>T;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.1351+155A>T;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.1351+155A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:227:26.04:26.04:0.00:1.00:1.00:0.00:60:32.4:0:0:74:76:47:NM_001198851.1(FOXJ3) c.1351+155A>T,NM_001198851.1(FOXJ3) c.1351+155A>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 42657391 . C . . NT END=42660560;NT GT ./. 1 42660736 . C . . NT END=42664772;NT GT ./. 1 42664902 . C . . NT END=42671432;NT GT ./. 1 42671535 . C . . NT END=42693553;NT GT ./. 1 42693597 rs343376 A G 116 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.2047,G/0.7953;PC=0.997;Gene=FOXJ3/NM_001198851.1/1;CC=c.485T>C;ProtCh=p.V162A;VC=Missense;Gene=FOXJ3/NM_001198852.1/0;CC=c.485T>C;ProtCh=p.V162A;VC=Missense;Gene=FOXJ3/NM_014947.4/0;CC=c.485T>C;ProtCh=p.V162A;VC=Missense;Gene=FOXJ3/NM_001198850.1/0;CC=c.485T>C;ProtCh=p.V162A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G,T:31:21:0:0:30,1:1019,12:115.78,0.38:47.23,0.38:68.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,113.0:0,0:0,0:62,75:82,76:21,0:NM_001198851.1(FOXJ3) c.485T>C (p.Val162Ala),NM_001198851.1(FOXJ3) c.485T>C (p.Val162Ala):0.83,0.83:0.782331,0.782331 1 42693638 . C . . NT END=42730785;NT GT ./. 1 42730861 . C . . NT END=42744018;NT GT ./. 1 42744344 . C . . NT END=42745956;NT GT ./. 1 42745886 rs7549791 C T 64 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.2608,T/0.7392;Gene=FOXJ3/NM_001198851.1/1;CC=c.45-1543G>A;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.45-1543G>A;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.45-1543G>A;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.45-1543G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:563:64.37:56.22:8.15:1.00:1.00:1.00:60:53.9:0:0:61:90:29:NM_001198851.1(FOXJ3) c.45-1543G>A,NM_001198851.1(FOXJ3) c.45-1543G>A:0.78,0.78:NOT_FOUND,NOT_FOUND 1 42745975 rs7526659 G C 189 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.3197,C/0.6803;PC=0.003;Gene=FOXJ3/NM_001198851.1/1;CC=c.45-1632C>G;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.45-1632C>G;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.45-1632C>G;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.45-1632C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:C:50:42:0:0:50:1654:189.21:138.61:50.60:1.00:1.00:1.00:60:46.2:0:0:48:97:31:NM_001198851.1(FOXJ3) c.45-1632C>G,NM_001198851.1(FOXJ3) c.45-1632C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 42746102 . G . . NT END=42776720;NT GT ./. 1 42746109 rs71065112 T TAAA 38 idl,rn VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;Gene=FOXJ3/NM_001198851.1/1;CC=c.45-1767_45-1766insTTT;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.45-1767_45-1766insTTT;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.45-1767_45-1766insTTT;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.45-1767_45-1766insTTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TAAA:39:40:20:0:2,24,13:43,740,652:2.28,0.00,37.51:-0.07,0.00,27.96:2.35,0.00,9.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.94:60,60,60:170.0,20.5,66.3:1,0,7:0,0,0:127,123,63:22,23,72:16,21,20:-,NM_001198851.1(FOXJ3) c.45-1767_45-1766insTTT:-,NOT_FOUND:-,NOT_FOUND 1 42776699 rs200511460 G GA 7 rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=134;PC=0.139;Gene=FOXJ3/NM_001198851.1/1;CC=c.44+21dupT;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.44+21dupT;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.44+21dupT;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.44+21dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G,GA:33:28:3:0:1,29,3:10,889,100:-0.13,0.00,7.11:-0.27,0.00,3.31:0.14,0.00,3.81:0.00,0.00,0.41:0.00,0.00,0.84:0.00,0.00,0.70:60,60,60:20.0,15.2,0.0:0,0,0:0,0,0:30,44,60:117,99,90:0,25,8:-,NM_001198851.1(FOXJ3) c.44+21_44+22insT:-,NOT_FOUND:-,NOT_FOUND 1 42776782 . C . . NT END=42781016;NT GT ./. 1 42777024 rs1393009 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2847,A/0.7153;Gene=FOXJ3/NM_001198851.1/1;CC=c.-17-243C>T;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.-17-243C>T;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.-17-243C>T;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.-17-243C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:168:19.18:0.00:19.18:1.00:0.00:1.00:60:37.4:0:0:86:65:52:NM_001198851.1(FOXJ3) c.-17-243C>T,NM_001198851.1(FOXJ3) c.-17-243C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 1 42781127 . C . . NT END=42789354;NT GT ./. 1 42781359 rs2494370 A T 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3199,T/0.6801;PC=0.079;Gene=FOXJ3/NM_001198851.1/1;CC=c.-127-233T>A;VC=Intron;Gene=FOXJ3/NM_001198852.1/0;CC=c.-17-4578T>A;VC=Intron;Gene=FOXJ3/NM_014947.4/0;CC=c.-17-4578T>A;VC=Intron;Gene=FOXJ3/NM_001198850.1/0;CC=c.-17-4578T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:229:26.24:0.00:26.24:1.00:0.00:1.00:60:53.4:0:0:73:78:34:NM_001198851.1(FOXJ3) c.-127-233T>A,NM_001198851.1(FOXJ3) c.-127-233T>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 42789499 . c . . NT END=42799806;NT GT ./. 1 42799817 . C . . NT END=42846605;NT GT ./. 1 42846769 . G . . NT END=42865074;NT GT ./. 1 42865306 . G . . NT END=42870181;NT GT ./. 1 42870269 . G . . NT END=42875654;NT GT ./. 1 42875859 . G . . NT END=42880154;NT GT ./. 1 42880646 . A . . NT END=42896406;NT GT ./. 1 42880866 rs2484436 G A 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.008586,A/0.9914;Gene=RIMKLA/NM_173642.3/1;CC=c.*221G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:229:26.24:0.00:26.24:1.00:0.00:1.00:60:48.9:0:0:86:65:36:NM_173642.3(RIMKLA) c.*221G>A,NM_173642.3(RIMKLA) c.*221G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 42896530 . C . . NT END=42898813;NT GT ./. 1 42898577 rs1011809 T C 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.517,C/0.483;Gene=ZMYND12/NM_001146192.1/0;CC=c.645+237A>G;VC=Intron;Gene=ZMYND12/NM_032257.4/1;CC=c.975+237A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:229:26.24:26.24:0.00:1.00:1.00:0.00:60:110.6:0:0:40:111:13:NM_032257.4(ZMYND12) c.975+237A>G,NM_032257.4(ZMYND12) c.975+237A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 42898633 rs1011810 A G 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3506,G/0.6494;Gene=ZMYND12/NM_001146192.1/0;CC=c.645+181T>C;VC=Intron;Gene=ZMYND12/NM_032257.4/1;CC=c.975+181T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:488:55.48:55.48:0.00:1.00:1.00:0.00:60:88.6:0:0:55:95:36:NM_032257.4(ZMYND12) c.975+181T>C,NM_032257.4(ZMYND12) c.975+181T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 1 42898671 rs2494376 A G 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.02196,G/0.978;Gene=ZMYND12/NM_001146192.1/0;CC=c.645+143T>C;VC=Intron;Gene=ZMYND12/NM_032257.4/1;CC=c.975+143T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:21:0:0:21:607:70.54:70.54:0.00:1.00:1.00:0.00:60:76.9:0:0:61:90:39:NM_032257.4(ZMYND12) c.975+143T>C,NM_032257.4(ZMYND12) c.975+143T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 42898843 rs1034268 A G 359 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.3506,G/0.6494,T/.;PC=1.000;Gene=ZMYND12/NM_001146192.1/0;CC=c.616T>C;ProtCh=p.F206L;VC=Missense;Gene=ZMYND12/NM_032257.4/1;CC=c.946T>C;ProtCh=p.F316L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:96:77:0:0:1,95:33,3165:0.00,359.20:0.00,216.56:0.00,142.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,39.8:0,0:0,0:51,65:100,72:0,26:NM_032257.4(ZMYND12) c.946T>C (p.Phe316Leu),NM_032257.4(ZMYND12) c.946T>C (p.Phe316Leu):0.63,0.63:0.645933,0.645933 1 42898960 . C . . NT END=42900944;NT GT ./. 1 42901057 . C . . NT END=42902091;NT GT ./. 1 42901806 rs3762450 A C 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6909,C/0.3091;Gene=ZMYND12/NM_001146192.1/0;CC=c.387+286T>G;VC=Intron;Gene=ZMYND12/NM_032257.4/1;CC=c.717+286T>G;VC=Intron;DM=ZMYND12/TPR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:260:29.81:29.81:0.00:1.00:1.00:0.00:60:37.1:0:0:79:71:31:NM_032257.4(ZMYND12) c.717+286T>G,NM_032257.4(ZMYND12) c.717+286T>G:0.26,0.26:NOT_FOUND,NOT_FOUND 1 42902215 . C . . NT END=42905526;NT GT ./. 1 42905697 . C . . NT END=42914137;NT GT ./. 1 42914310 . C . . NT END=42915588;NT GT ./. 1 42915409 rs7513968 A G 53 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5312,G/0.4688;Gene=ZMYND12/NM_001146192.1/0;CC=c.94+180T>C;VC=Intron;Gene=ZMYND12/NM_032257.4/1;CC=c.252+180T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:459:52.57:52.57:0.00:1.00:1.00:0.00:60:35.0:0:0:42:109:25:NM_032257.4(ZMYND12) c.252+180T>C,NM_032257.4(ZMYND12) c.252+180T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 1 42915727 rs12047095 C G 234 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.7169,G/0.2831;PC=0.451;Gene=ZMYND12/NM_001146192.1/0;CC=c.-45G>C;VC=5UTR;Gene=ZMYND12/NM_032257.4/1;CC=c.114G>C;ProtCh=p.G38=;VC=Silent;DM=ZMYND12/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:G:63:28:0:0:63:2036:233.51:68.18:165.33:1.00:1.00:1.00:60:61.4:0:0:90:56:36:NM_032257.4(ZMYND12) c.114G>C (p.(=)),NM_032257.4(ZMYND12) c.114G>C (p.(=)):0.24,0.24:0.194141,0.194141 1 42915731 . C . . NT END=42921558;NT GT ./. 1 42915753 rs11210647 T C 194 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.5375,C/0.4625;Gene=ZMYND12/NM_001146192.1/0;CC=c.-48-23A>G;VC=Intron;Gene=ZMYND12/NM_032257.4/1;CC=c.111-23A>G;VC=Intron;DM=ZMYND12/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:16:0:0:52:1693:193.92:41.06:152.86:1.00:1.00:1.00:60:68.3:0:0:112:38:21:NM_032257.4(ZMYND12) c.111-23A>G,NM_032257.4(ZMYND12) c.111-23A>G:0.42,0.42:0.384822,0.384822 1 42921669 . G . . NT END=42922236;NT GT ./. 1 42922745 . G . . NT END=42922917;NT GT ./. 1 42923022 . G . . NT END=42925273;NT GT ./. 1 42925080 rs55861965 T C 40 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5323,C/0.4677;Gene=PPCS/NM_001287506.1/0;CC=c.94-194T>C;VC=Intron;Gene=PPCS/NM_001287507.1/0;CC=c.-6-194T>C;VC=Intron;Gene=PPCS/NM_001077447.2/0;CC=c.94-194T>C;VC=Intron;Gene=PPCS/NM_001287508.1/0;CC=c.94-194T>C;VC=Intron;Gene=PPCS/NM_001287509.1/0;CC=c.94-194T>C;VC=Intron;Gene=PPCS/NM_001287510.1/0;CC=c.94-194T>C;VC=Intron;Gene=PPCS/NM_024664.3/0;CC=c.613-194T>C;VC=Intron;Gene=PPCS/NM_001287511.1/1;CC=c.612+2059T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:346:39.81:39.81:0.00:1.00:1.00:0.00:60:38.8:0:0:63:88:32:NM_024664.2(PPCS) c.613-194T>C,NM_024664.2(PPCS) c.613-194T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 1 42925688 rs9787162 T G 382 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.5313,G/0.4687;PC=0.005;Gene=PPCS/NM_001287506.1/0;CC=c.*91T>G;VC=3UTR;Gene=PPCS/NM_001287507.1/0;CC=c.*91T>G;VC=3UTR;Gene=PPCS/NM_001077447.2/0;CC=c.*91T>G;VC=3UTR;Gene=PPCS/NM_001287508.1/0;CC=c.*91T>G;VC=3UTR;Gene=PPCS/NM_001287509.1/0;CC=c.*91T>G;VC=3UTR;Gene=PPCS/NM_001287510.1/0;CC=c.*91T>G;VC=3UTR;Gene=PPCS/NM_024664.3/0;CC=c.*91T>G;VC=3UTR;Gene=PPCS/NM_001287511.1/1;CC=c.612+2667T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:101:59:0:0:101:3344:382.48:179.32:203.16:1.00:1.00:1.00:60:42.4:0:0:84:63:39:NM_024664.2(PPCS) c.*91T>G,NM_024664.2(PPCS) c.*91T>G:0.42,0.42:NOT_FOUND,NOT_FOUND 1 42926087 . T . . NT END=42938792;NT GT ./. 1 42938916 . G . . NT END=42946222;NT GT ./. 1 42946238 . g . . NT END=42948333;NT GT ./. 1 42946462 rs2152314 C T 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5196,T/0.4804;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:415:48.08:0.00:48.08:1.00:0.00:1.00:60:43.3:0:0:120:30:14:chr1 g.42946461C>T (intergenic),chr1 g.42946461C>T (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 1 42948488 . G . . NT END=42955828;NT GT ./. 1 42948562 . G GA 7 rn VT=INS;SST=Single;DP=31;NP=2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,G,GA,D:31:6:3:2:4,22,3,2:88,636,97,62:5.93,0.00,7.12,4.14:-0.21,0.00,-0.15,2.58:6.14,0.00,7.28,1.56:0.00,0.00,0.42,0.00:0.00,0.00,0.44,0.00:0.00,0.00,0.86,0.00:60,60,60,60:103.5,26.5,45.3,59.5:1,0,0,0:0,0,0,0:61,130,99,115:89,19,52,35:25,17,12,11:-,chr1 g.42948562_42948563insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 42948585 rs6656344 C A 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.5198,A/0.4802;PC=0.144 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:2:0:0:22:704:80.89:3.78:77.11:1.00:1.00:1.00:60:62.6:0:0:108:42:29:chr1 g.42948584C>A (intergenic),chr1 g.42948584C>A (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 1 42955901 . G . . NT END=42962768;NT GT ./. 1 42962885 . G . . NT END=42964488;NT GT ./. 1 42964588 . G . . NT END=42975738;NT GT ./. 1 42965630 rs11210655 T G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7214,G/0.2786;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:138:16.17:16.17:0.00:1.00:1.00:0.00:60:79.2:0:0:79:72:12:chr1 g.42965629T>G (intergenic),chr1 g.42965629T>G (intergenic):0.23,0.23:NOT_FOUND,NOT_FOUND 1 42966037 rs2992346 T C 147 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.007788,C/0.9922;NP=3441;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:C:43:12:0:0:43:1266:146.87:25.64:121.24:1.00:1.00:1.00:60:35.7:0:0:97:48:25:chr1 g.42966036T>C (intergenic),chr1 g.42966036T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 42975818 . g . . NT END=43002155;NT GT ./. 1 43002199 rs372826618 AAG A 24 idl,rn VT=DEL;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=489;PC=1.000;Gene=CCDC30/NM_001080850.2/1;CC=c.60_61delGA;ProtCh=p.K21Afs*7;VC=FrameShiftDel;DM=CCDC30/DUF4686;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:AAG,A:88:75:0:13:78,10:2497,400:0.00,24.35:0.00,14.46:0.00,9.88:0.00,0.98:0.00,1.00:0.00,0.99:60,60:7.2,1.2:0,3:0,0:70,69:68,82:32,29:-,NM_001080850.2(CCDC30) c.46GA[7] (p.Lys21Alafs*7):-,NOT_FOUND:-,NOT_FOUND 1 43002273 . G . . NT END=43004843;NT GT ./. 1 43004982 . G . . NT END=43011080;NT GT ./. 1 43010888 rs55876180 TA T 26 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TA/0.7113,T/0.2887;NP=74;PC=0.051;Gene=CCDC30/NM_001080850.2/1;CC=c.256-183delA;VC=Intron;DM=CCDC30/DUF4686;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:TA,T:9:10:0:9:1,8:12,269:0.00,26.07:0.00,26.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:47.0,13.5:0,1:0,0:139,18:11,133:0,3:NM_001080850.2(CCDC30) c.256-192delA,NM_001080850.2(CCDC30) c.256-192delA:0.25,0.25:NOT_FOUND,NOT_FOUND 1 43011030 rs11210668 A G 127 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.6991,G/0.3009;Gene=CCDC30/NM_001080850.2/1;CC=c.256-51A>G;VC=Intron;DM=CCDC30/DUF4686 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:G,T:35:30:0:0:34,1:1110,10:126.71,0.24:92.58,0.24:34.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,52.0:0,0:0,0:44,129:107,21:19,0:NM_001080850.2(CCDC30) c.256-51A>G,NM_001080850.2(CCDC30) c.256-51A>G:0.25,0.25:0.204861,0.204861 1 43011251 . G . . NT END=43021826;NT GT ./. 1 43011389 rs6661835 A G 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.52,G/0.48;Gene=CCDC30/NM_001080850.2/1;CC=c.425+139A>G;VC=Intron;DM=CCDC30/DUF4686;DM=CCDC30/Branch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:310:35.75:0.00:35.75:1.00:0.00:1.00:60:38.3:0:0:83:67:41:NM_001080850.2(CCDC30) c.425+139A>G,NM_001080850.2(CCDC30) c.425+139A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 43021698 rs4598532 G T 68 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7165,T/0.2835;Gene=CCDC30/NM_001080850.2/1;CC=c.426-129G>T;VC=Intron;DM=CCDC30/DUF4686;DM=CCDC30/Branch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:19:0:0:19:593:68.29:68.29:0.00:1.00:1.00:0.00:60:55.2:0:0:30:121:7:NM_001080850.2(CCDC30) c.426-129G>T,NM_001080850.2(CCDC30) c.426-129G>T:0.23,0.23:NOT_FOUND,NOT_FOUND 1 43021810 rs12038786 C T 216 nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.5401,T/0.4599;PC=0.800;Gene=CCDC30/NM_001080850.2/1;CC=c.426-17C>T;VC=Intron;DM=CCDC30/DUF4686;DM=CCDC30/Branch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:T:61:57:0:0:61:1875:216.34:180.36:35.98:1.00:1.00:1.00:60:42.2:0:0:53:88:28:NM_001080850.2(CCDC30) c.426-17C>T,NM_001080850.2(CCDC30) c.426-17C>T:0.42,0.42:0.375846,0.375846 1 43022077 . G . . NT END=43031966;NT GT ./. 1 43032147 . G . . NT END=43042690;NT GT ./. 1 43042703 rs12049046 C T 102 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7145,T/0.2855;PC=1.000;Gene=CCDC30/NM_001080850.2/1;CC=c.868C>T;ProtCh=p.L290=;VC=Silent;DM=CCDC30/DUF4686;DM=CCDC30/Branch;DM=CCDC30/DUF4686;DM=CCDC30/DUF4686 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:26:0:0:29:887:102.37:79.60:22.77:1.00:1.00:1.00:60:37.1:0:0:52:97:23:NM_001080850.2(CCDC30) c.868C>T (p.(=)),NM_001080850.2(CCDC30) c.868C>T (p.(=)):0.24,0.24:0.193372,0.193372 1 43042901 . G . . NT END=43047030;NT GT ./. 1 43047057 rs12037518 A G 236 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.721,G/0.279;PC=0.966;Gene=CCDC30/NM_001080850.2/1;CC=c.1092A>G;ProtCh=p.E364=;VC=Silent;DM=CCDC30/DUF4686 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G,T:64:48:0:0:63,1:2066,12:236.07,0.23:149.16,0.23:86.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,22.0:0,0:0,0:71,29:79,122:34,0:NM_001080850.2(CCDC30) c.1092A>G (p.(=)),NM_001080850.2(CCDC30) c.1092A>G (p.(=)):0.2,0.2:0.192219,0.192219 1 43047186 . G . . NT END=43054991;NT GT ./. 1 43054909 rs7527588 T C 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6955,A/.,C/0.3045;Gene=CCDC30/NM_001080850.2/1;CC=c.1221-83T>C;VC=Intron;DM=CCDC30/DUF4686 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:410:46.72:42.85:3.88:1.00:1.00:1.00:60:45.9:0:0:54:95:20:NM_001080850.2(CCDC30) c.1221-83T>C,NM_001080850.2(CCDC30) c.1221-83T>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 43055155 . G . . NT END=43076648;NT GT ./. 1 43055243 rs10789417 C G 69 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=CCDC30/NM_001080850.2/1;CC=c.1383+89C>G;VC=Intron;DM=CCDC30/DUF4686 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:1:0:0:19:596:68.63:1.94:66.69:1.00:1.00:1.00:60:39.5:0:0:98:53:41:NM_001080850.2(CCDC30) c.1383+89C>G,NM_001080850.2(CCDC30) c.1383+89C>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 43076762 . G . . NT END=43102907;NT GT ./. 1 43103050 . G . . NT END=43108143;NT GT ./. 1 43108281 . G . . NT END=43110363;NT GT ./. 1 43110276 rs7523056 G A 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3309,A/0.6691;PC=0.001;Gene=CCDC30/NM_001080850.2/1;CC=c.1776-88G>A;VC=Intron;DM=CCDC30/DUF4686 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:412:47.37:43.44:3.93:1.00:1.00:1.00:60:37.6:0:0:35:114:35:NM_001080850.2(CCDC30) c.1776-88G>A,NM_001080850.2(CCDC30) c.1776-88G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 43110479 . G . . NT END=43111805;NT GT ./. 1 43111841 . t . . NT END=43119046;NT GT ./. 1 43118882 rs11210691 G T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5755,T/0.4245;PC=0.001;Gene=CCDC30/NM_001080850.2/1;CC=c.2074-165G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:167:19.49:19.49:0.00:1.00:1.00:0.00:60:60.3:0:0:40:111:17:NM_001080850.2(CCDC30) c.2074-165G>T,NM_001080850.2(CCDC30) c.2074-165G>T:0.41,0.41:NOT_FOUND,NOT_FOUND 1 43119115 . G . . NT END=43119488;NT GT ./. 1 43119700 . A . . NT END=43124117;NT GT ./. 1 43124185 . T . . NT END=43124514;NT GT ./. 1 43124581 . T . . NT END=43124898;NT GT ./. 1 43124701 rs6600419 A G 79 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.399,G/0.601;Gene=PPIH/NM_006347.3/1;CC=c.131+122A>G;VC=Intron;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:6:0:0:22:690:79.46:20.36:59.10:1.00:1.00:1.00:60:36.5:0:0:54:95:31:NM_006347.3(PPIH) c.131+122A>G,NM_006347.3(PPIH) c.131+122A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 43124859 rs3738494 C T 99 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.3632,T/0.6368;Gene=PPIH/NM_006347.3/1;CC=c.132-40C>T;VC=Intron;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:17:0:0:27:857:98.53:45.07:53.46:1.00:1.00:1.00:60:37.9:0:0:72:76:36:NM_006347.3(PPIH) c.132-40C>T,NM_006347.3(PPIH) c.132-40C>T:0.61,0.61:0.614332,0.614332 1 43124924 . T . . NT END=43125192;NT GT ./. 1 43125239 . T . . NT END=43126532;NT GT ./. 1 43126577 . T . . NT END=43130533;NT GT ./. 1 43126733 rs3768025 G A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7334,A/0.2666;PC=0.001;Gene=PPIH/NM_006347.3/1;CC=c.243+158G>A;VC=Intron;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase;DM=PPIH/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:186:21.46:0.00:21.46:1.00:0.00:1.00:60:48.2:0:0:113:37:32:NM_006347.3(PPIH) c.243+158G>A,NM_006347.3(PPIH) c.243+158G>A:0.26,0.26:NOT_FOUND,NOT_FOUND 1 43130628 . T . . NT END=43131650;NT GT ./. 1 43131740 . T . . NT END=43132217;NT GT ./. 1 43132260 . T . . NT END=43133021;NT GT ./. 1 43133092 . C . . NT END=43148236;NT GT ./. 1 43148403 . G . . NT END=43149073;NT GT ./. 1 43149138 . G . . NT END=43159160;NT GT ./. 1 43158943 rs144349068 CT C 16 end,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CT/0.5391,C/0.4609;NP=85;PC=0.079;Gene=YBX1/NM_004559.3/1;CC=c.231-204delT;VC=Intron;Gene=YBX1/NR_132737/0;VC=NonCoding;DM=YBX1/CSD;DM=YBX1/CSD;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CT,C:7:8:0:6:2,5:69,183:0.00,15.61:0.00,15.61:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,40.2:0,1:0,0:125,8:13,142:15,3:-,NM_004559.3(YBX1) c.231-217delT:-,NOT_FOUND:-,NOT_FOUND 1 43159195 . G . . NT END=43161869;NT GT ./. 1 43161960 . G . . NT END=43162312;NT GT ./. 1 43162182 rs368347534 G GC 15 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=14;Gene=YBX1/NM_004559.3/1;CC=c.355-120dupC;VC=Intron;Gene=YBX1/NR_132737/0;VC=NonCoding;DM=YBX1/CSD;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,G,GC:7:4:6:0:1,1,5:11,22,158:0.66,0.00,14.83:0.66,0.00,6.62:0.00,0.00,8.21:0.00,0.00,0.97:0.00,0.00,0.98:0.00,0.00,0.98:60,60,70:61.0,0.0,76.6:1,0,1:0,0,0:103,123,93:40,16,57:0,0,11:-,NM_004559.3(YBX1) c.355-131_355-130insC:-,NOT_FOUND:-,NOT_FOUND 1 43162616 . G . . NT END=43162850;NT GT ./. 1 43162934 . G . . NT END=43166451;NT GT ./. 1 43166227 rs3850847 T G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.23,G/0.77;PC=0.004;Gene=YBX1/NM_004559.3/1;CC=c.741-225T>G;VC=Intron;Gene=YBX1/NR_132737/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:150:17.34:17.34:0.00:1.00:1.00:0.00:60:54.2:0:0:87:56:30:NM_004559.3(YBX1) c.741-225T>G,NM_004559.3(YBX1) c.741-225T>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 43166687 . A . . NT END=43200756;NT GT ./. 1 43200526 rs912075 T C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3932,C/0.6068;Gene=CLDN19/NM_001123395.1/0;CC=c.*1013A>G;VC=3UTR;Gene=CLDN19/NM_001185117.1/0;CC=c.*907A>G;VC=3UTR;Gene=CLDN19/NM_148960.2/1;CC=c.*231A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:67.5:0:0:27:120:2:NM_148960.2(CLDN19) c.*231A>G,NM_148960.2(CLDN19) c.*231A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 43201216 rs12141833 A C 611 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=169;DB;DBA=NA;PAF=A/0.4431,C/0.5569;Gene=CLDN19/NM_001123395.1/0;CC=c.*323T>G;VC=3UTR;Gene=CLDN19/NM_001185117.1/0;CC=c.*217T>G;VC=3UTR;Gene=CLDN19/NM_148960.2/1;CC=c.626+333T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:169:118:0:0:169:5316:611.35:345.42:265.92:1.00:1.00:1.00:60:38.6:0:0:76:69:40:NM_148960.2(CLDN19) c.626+333T>G,NM_148960.2(CLDN19) c.626+333T>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 43201702 . C . . NT END=43203899;NT GT ./. 1 43203985 . C . . NT END=43204091;NT GT ./. 1 43204257 . C . . NT END=43205511;NT GT ./. 1 43205735 . G . . NT END=43212367;NT GT ./. 1 43211127 rs28695628 C T 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4445,T/0.5555;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:38.8:0:0:37:114:16:NM_148960.2(CLDN19) c.-191-u5202G>A,NM_148960.2(CLDN19) c.-191-u5202G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 43212431 rs4660662 A G 416 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=1981;Gene=P3H1/NM_001146289.1/0;CC=c.*73T>C;VC=3UTR;Gene=P3H1/NM_001243246.1/0;CC=c.*152T>C;VC=3UTR;Gene=P3H1/NM_022356.3/1;CC=c.2148T>C;ProtCh=p.G716=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:115:93:0:2:115:3619:416.45:266.57:149.88:1.00:1.00:1.00:60:38.6:0:0:61:82:36:NM_022356.3(LEPRE1) c.=,NM_022356.3(LEPRE1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 43213084 . C . . NT END=43213393;NT GT ./. 1 43213470 . C . . NT END=43213870;NT GT ./. 1 43213499 rs3738499 C T 149 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.4459,T/0.5541;Gene=P3H1/NM_001146289.1/0;CC=c.1839-30G>A;VC=Intron;Gene=P3H1/NM_001243246.1/0;CC=c.1839-30G>A;VC=Intron;Gene=P3H1/NM_022356.3/1;CC=c.1839-30G>A;VC=Intron;DM=P3H1/2OG-FeII_Oxy_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:24:0:0:40:1300:149.03:53.81:95.23:1.00:1.00:1.00:60:42.2:0:0:83:67:28:NM_001146289.1(LEPRE1) c.1839-30G>A,NM_001146289.1(LEPRE1) c.1839-30G>A:0.54,0.54:0.517377,0.517377 1 43213610 rs7552138 T C 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.248,C/0.752;Gene=P3H1/NM_001146289.1/0;CC=c.1839-141A>G;VC=Intron;Gene=P3H1/NM_001243246.1/0;CC=c.1839-141A>G;VC=Intron;Gene=P3H1/NM_022356.3/1;CC=c.1839-141A>G;VC=Intron;DM=P3H1/2OG-FeII_Oxy_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:1:0:0:8:261:29.91:2.57:27.34:1.00:1.00:1.00:60:54.8:0:0:96:53:44:NM_001146289.1(LEPRE1) c.1839-141A>G,NM_001146289.1(LEPRE1) c.1839-141A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 43213989 . C . . NT END=43215856;NT GT ./. 1 43216008 . C . . NT END=43217944;NT GT ./. 1 43218041 . C . . NT END=43218207;NT GT ./. 1 43218336 . C . . NT END=43220539;NT GT ./. 1 43220662 . C . . NT END=43220835;NT GT ./. 1 43220889 . C . . NT END=43221218;NT GT ./. 1 43221309 . C . . NT END=43223453;NT GT ./. 1 43223594 . C . . NT END=43224522;NT GT ./. 1 43224655 . C . . NT END=43224871;NT GT ./. 1 43225065 . C . . NT END=43227993;NT GT ./. 1 43227867 rs2760070 G A 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.2825,A/0.7175;Gene=P3H1/NM_001146289.1/0;CC=c.618+127C>T;VC=Intron;Gene=P3H1/NM_001243246.1/0;CC=c.618+127C>T;VC=Intron;Gene=P3H1/NM_022356.3/1;CC=c.618+127C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:22:0:0:22:690:79.41:79.41:0.00:1.00:1.00:0.00:60:40.6:0:0:53:95:16:NM_001146289.1(LEPRE1) c.618+127C>T,NM_001146289.1(LEPRE1) c.618+127C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 43228147 . C . . NT END=43232177;NT GT ./. 1 43228189 rs2816593 T A 137 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.00639,A/0.9936;Gene=P3H1/NM_001146289.1/0;CC=c.466-43A>T;VC=Intron;Gene=P3H1/NM_001243246.1/0;CC=c.466-43A>T;VC=Intron;Gene=P3H1/NM_022356.3/1;CC=c.466-43A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:A,C,G:44:18:0:0:41,2,1:1191,27,10:137.26,1.25,0.20:43.82,0.00,0.00:93.44,1.25,0.20:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:30.6,88.0,47.0:0,0,0:0,0,0:117,92,123:34,59,28:24,11,0:NM_001146289.1(LEPRE1) c.466-43A>T,NM_001146289.1(LEPRE1) c.466-43A>T:0.99,0.99:0.988544,0.988544 1 43232643 . C . . NT END=43232982;NT GT ./. 1 43232807 rs3738504 C G 94 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.3504,G/0.6496;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:G:27:8:0:0:27:809:93.57:22.62:70.95:1.00:1.00:1.00:60:55.6:0:0:94:57:28:NM_001146289.1(LEPRE1) c.-113-u52G>C,NM_001146289.1(LEPRE1) c.-113-u52G>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 43232877 rs3738505 A T 102 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.7141,T/0.2859 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:18:0:0:29:878:101.53:53.72:47.81:1.00:1.00:1.00:60:53.7:0:0:58:93:40:NM_001146289.1(LEPRE1) c.-113-u122T>A,NM_001146289.1(LEPRE1) c.-113-u122T>A:0.26,0.26:NOT_FOUND,NOT_FOUND 1 43233062 . G . . NT END=43233179;NT GT ./. 1 43233296 . G . . NT END=43239233;NT GT ./. 1 43239321 . G . . NT END=43240407;NT GT ./. 1 43239395 rs2760075 G A 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2877,A/0.7123;Gene=C1orf50/NM_024097.3/1;CC=c.282+75G>A;VC=Intron;Gene=C1orf50/NR_040733.1/0;VC=NonCoding;DM=C1orf50/DUF2452 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:1:0:0:14:437:50.37:3.68:46.70:1.00:1.00:1.00:60:34.6:0:0:116:27:15:NM_024097.3(C1orf50) c.282+75G>A,NM_024097.3(C1orf50) c.282+75G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 43240540 . G . . NT END=43240879;NT GT ./. 1 43241066 . G . . NT END=43255103;NT GT ./. 1 43255157 . G . . NT END=43255491;NT GT ./. 1 43255606 . G . . NT END=43258475;NT GT ./. 1 43258574 . G . . NT END=43259271;NT GT ./. 1 43258845 rs2367020 C A 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5333,A/0.4667;Gene=LOC100129924/NM_001242750.1/1;CC=c.265+272C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:231:26.87:0.00:26.87:1.00:0.00:1.00:60:43.5:0:0:121:25:10:NM_001242750.1(LOC100129924) c.265+272C>A,NM_001242750.1(LOC100129924) c.265+272C>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 43259416 . G . . NT END=43260083;NT GT ./. 1 43260285 . G . . NT END=43263768;NT GT ./. 1 43263489 rs41269527 T C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9734,C/0.02656;PC=0.006;Gene=LOC100129924/NM_001242750.1/1;CC=c.611-280T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:196:22.46:22.46:0.00:1.00:1.00:0.00:60:35.7:0:0:43:107:11:NM_001242750.1(LOC100129924) c.611-280T>C,NM_001242750.1(LOC100129924) c.611-280T>C:0.02,0.02:NOT_FOUND,NOT_FOUND 1 43263897 . G . . NT END=43273084;NT GT ./. 1 43272841 rs1044898 A T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7961,T/0.2039;NP=12;Gene=SVBP/NM_199342.3/1;CC=c.*244T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:70:42.8:0:0:32:118:19:NM_199342.3(CCDC23) c.*244T>A,NM_199342.3(CCDC23) c.*244T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 43273172 . C . . NT END=43282101;NT GT ./. 1 43282216 . G . . NT END=43282814;NT GT ./. 1 43282925 . G . . NT END=43291163;NT GT ./. 1 43284879 rs1872262 C A 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1192,A/0.8808,T/.;NP=6;Gene=ERMAP/NM_001017922.1/1;CC=c.-122+1955C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:152:17.58:4.16:13.42:1.00:1.00:1.00:70:36.8:0:0:46:76:13:NM_001017922.1(ERMAP) c.-122+1955C>A,NM_001017922.1(ERMAP) c.-122+1955C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 43291410 . G . . NT END=43296114;NT GT ./. 1 43296118 rs12124733 G A 245 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.6649,A/0.3351;Gene=ERMAP/NM_001017922.1/1;CC=c.-2G>A;VC=5UTR;Gene=ERMAP/NM_018538.3/0;CC=c.-2G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:65:55:0:0:65:2142:245.07:147.73:97.34:1.00:1.00:1.00:60:38.1:0:0:46:93:22:NM_001017922.1(ERMAP) c.-2G>A,NM_001017922.1(ERMAP) c.-2G>A:0.29,0.29:0.269875,0.269875 1 43296205 . G . . NT END=43296438;NT GT ./. 1 43296787 . G . . NT END=43300708;NT GT ./. 1 43300826 . G . . NT END=43301402;NT GT ./. 1 43301436 . G . . NT END=43302828;NT GT ./. 1 43302574 rs397765537 T TA 16 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=27;Gene=ERMAP/NM_001017922.1/1;CC=c.584-239_584-238insA;VC=Intron;Gene=ERMAP/NM_018538.3/0;CC=c.584-239_584-238insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TA:6:6:5:0:1,5:31,146:0.00,15.81:0.00,15.81:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,70:9.0,19.0:0,0:0,0:139,8:11,142:0,8:-,NM_001017922.1(ERMAP) c.584-255_584-254insA:-,NOT_FOUND:-,NOT_FOUND 1 43302862 . G . . NT END=43304571;NT GT ./. 1 43302971 rs1466548 C G 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5537,G/0.4463;Gene=ERMAP/NM_001017922.1/1;CC=c.616+110C>G;VC=Intron;Gene=ERMAP/NM_018538.3/0;CC=c.616+110C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:3:0:0:18:585:67.06:8.49:58.57:1.00:1.00:1.00:60:34.2:0:0:131:20:18:NM_001017922.1(ERMAP) c.616+110C>G,NM_001017922.1(ERMAP) c.616+110C>G:0.41,0.41:NOT_FOUND,NOT_FOUND 1 43304593 . G . . NT END=43305703;NT GT ./. 1 43305725 . G . . NT END=43305822;NT GT ./. 1 43305753 rs12034000 G A 214 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.7396,A/0.2604;Gene=ERMAP/NM_001017922.1/1;CC=c.658+29G>A;VC=Intron;Gene=ERMAP/NM_018538.3/0;CC=c.658+29G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A:57:46:0:0:57:1864:213.55:147.96:65.59:1.00:1.00:1.00:60:40.3:0:0:62:89:29:NM_001017922.1(ERMAP) c.658+29G>A,NM_001017922.1(ERMAP) c.658+29G>A:0.23,0.23:0.226126,0.226126 1 43305850 . G . . NT END=43305940;NT GT ./. 1 43305968 . G . . NT END=43308187;NT GT ./. 1 43306217 rs1466549 G A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.003594,A/0.9964;NP=614;Gene=ERMAP/NM_001017922.1/1;CC=c.712+250G>A;VC=Intron;Gene=ERMAP/NM_018538.3/0;CC=c.712+250G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:35.2:0:0:130:20:8:NM_001017922.1(ERMAP) c.712+250G>A,NM_001017922.1(ERMAP) c.712+250G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 43308904 . G . . NT END=43315329;NT GT ./. 1 43315414 . G . . NT END=43316054;NT GT ./. 1 43315531 rs56653907 T C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7386,C/0.2614;PC=0.097;Gene=ZNF691/NM_001242739.1/1;CC=c.84+118T>C;VC=Intron;Gene=ZNF691/NM_015911.3/0;CC=c.-9-1090T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:401:46.30:0.00:46.30:1.00:0.00:1.00:60:40.6:0:0:104:47:23:NM_001242739.1(ZNF691) c.84+118T>C,NM_001242739.1(ZNF691) c.84+118T>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 43315966 rs7520697 G A 122 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7406,A/0.2594;Gene=ZNF691/NM_001242739.1/1;CC=c.84+553G>A;VC=Intron;Gene=ZNF691/NM_015911.3/0;CC=c.-9-655G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:36:0:0:36:1050:122.00:122.00:0.00:1.00:1.00:0.00:60:33.2:0:0:45:104:31:NM_001242739.1(ZNF691) c.84+553G>A,NM_001242739.1(ZNF691) c.84+553G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 1 43316415 . G . . NT END=43316620;NT GT ./. 1 43317485 . A . . NT END=43392374;NT GT ./. 1 43352685 rs6678503 A G 23 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1711,G/0.8289;PC=0.001;Gene=LOC339539/NR_104171.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:206:23.46:21.52:1.94:1.00:1.00:1.00:60:69.2:0:0:40:110:11:chr1 g.43352684A>G (intergenic),chr1 g.43352684A>G (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 43352723 rs12739750 C G 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7067,G/0.2933;PC=0.998;Gene=LOC339539/NR_104171.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:240:27.34:25.30:2.04:1.00:1.00:1.00:60:63.7:0:0:70:80:17:chr1 g.43352722C>G (intergenic),chr1 g.43352722C>G (intergenic):0.26,0.26:NOT_FOUND,NOT_FOUND 1 43353213 rs6600428 G A 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.003994,A/0.996;NP=2471;PC=0.162;Gene=LOC339539/NR_104171.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A,C:12:2:0:0:11,1:331,5:37.90,0.16:5.71,0.00:32.19,0.16:1.00,0.00:0.99,0.00:1.00,0.00:60,60:41.8,35.0:0,0:0,0:96,103:55,48:26,0:chr1 g.43353212G>A (intergenic),chr1 g.43353212G>A (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 43356765 rs10789430 T C 58 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.003994,C/0.996;NP=3435;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:9:0:0:16:507:58.24:27.08:31.16:1.00:1.00:1.00:60:41.0:0:0:78:72:13:chr1 g.43356764T>C (intergenic),chr1 g.43356764T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 43369005 rs951059 G A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.7338,A/0.2662;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:16:0:0:8,13:246,415:22.36,0.00:16.86,0.00:5.50,0.00:0.99,0.00:1.00,0.00:0.98,0.00:60,60:48.8,9.2:0,0:0,0:26,36:122,115:22,36:chr1 g.43369004G>A (intergenic),-:0.26,-:NOT_FOUND,- 1 43369305 rs951060 C T 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7572,T/0.2428;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:16:7:0:0:12,4:351,114:0.00,9.42:0.00,2.95:0.00,6.47:0.00,0.75:0.00,0.84:0.00,0.97:60,60:14.2,28.5:0,0:0,0:92,105:58,41:36,23:-,chr1 g.43369304C>T (intergenic):-,0.24:-,NOT_FOUND 1 43392913 . C . . NT END=43393275;NT GT ./. 1 43393480 . C . . NT END=43394602;NT GT ./. 1 43394705 . C . . NT END=43394880;NT GT ./. 1 43394986 . C . . NT END=43395263;NT GT ./. 1 43395452 . C . . NT END=43395543;NT GT ./. 1 43395707 . C . . NT END=43396296;NT GT ./. 1 43396538 . C . . NT END=43396716;NT GT ./. 1 43396878 . C . . NT END=43408896;NT GT ./. 1 43408993 . C . . NT END=43424304;NT GT ./. 1 43424323 . G . . NT END=43610919;NT GT ./. 1 43607983 rs527795 C A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.08626,A/0.9137;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:134:15.31:3.88:11.43:1.00:1.00:1.00:60:40.5:0:0:86:53:31:NM_001101376.2(FAM183A) c.-29-u5611C>A,NM_001101376.2(FAM183A) c.-29-u5611C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 43610969 . G . . NT END=43613496;NT GT ./. 1 43613756 . G . . NT END=43616431;NT GT ./. 1 43616492 . G . . NT END=43618498;NT GT ./. 1 43618651 . G . . NT END=43621876;NT GT ./. 1 43621985 . C . . NT END=43630113;NT GT ./. 1 43630165 . C . . NT END=43630313;NT GT ./. 1 43630477 . C . . NT END=43632496;NT GT ./. 1 43632591 . C . . NT END=43632830;NT GT ./. 1 43632907 . C . . NT END=43634609;NT GT ./. 1 43634700 . C . . NT END=43636426;NT GT ./. 1 43636551 . C . . NT END=43637149;NT GT ./. 1 43637323 . C . . NT END=43637556;NT GT ./. 1 43637641 . C . . NT END=43637723;NT GT ./. 1 43638093 . G . . NT END=43638424;NT GT ./. 1 43638582 . G . . NT END=43647204;NT GT ./. 1 43647522 . G . . NT END=43649261;NT GT ./. 1 43649549 . G . . NT END=43650819;NT GT ./. 1 43651028 . G . . NT END=43652377;NT GT ./. 1 43652281 rs36219136 CA C 33 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=5;PC=0.942;Gene=CFAP57/NM_001167965.1/0;CC=c.970-74delA;VC=Intron;Gene=CFAP57/NM_152498.3/1;CC=c.970-74delA;VC=Intron;Gene=CFAP57/NM_001195831.2/0;CC=c.970-74delA;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:24:30:2:19:11,2,11:363,63,537:0.00,4.58,32.77:0.00,4.58,32.77:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:47.5,75.5,56.4:0,0,6:0,0,0:62,23,32:89,127,114:42,7,26:-,NM_152498.3(WDR65) c.970-96delA:-,NOT_FOUND:-,NOT_FOUND 1 43652369 rs6413971 T C 335 nt VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.003195,C/0.9968;NP=3468;Gene=CFAP57/NM_001167965.1/0;CC=c.970-9T>C;VC=Intron;Gene=CFAP57/NM_152498.3/1;CC=c.970-9T>C;VC=Intron;Gene=CFAP57/NM_001195831.2/0;CC=c.970-9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:93:80:0:0:89,1,3:2977,10,27:335.22,0.10,0.00:227.20,0.10,0.00:108.01,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.2,156.0,81.3:0,0,0:0,0,0:50,101,112:100,49,38:16,0,1:NM_152498.3(WDR65) c.970-9T>C,NM_152498.3(WDR65) c.970-9T>C:1,1:0.996617,0.996617 1 43652531 . G . . NT END=43663223;NT GT ./. 1 43663364 . G . . NT END=43664151;NT GT ./. 1 43663376 rs513009 A G 257 nt VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.2812,G/0.7188;PC=0.035;Gene=CFAP57/NM_001167965.1/0;CC=c.1262+13A>G;VC=Intron;Gene=CFAP57/NM_152498.3/1;CC=c.1262+13A>G;VC=Intron;Gene=CFAP57/NM_001195831.2/0;CC=c.1262+13A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:72:25:0:0:72:2233:257.38:70.31:187.07:1.00:1.00:1.00:60:36.4:0:0:90:60:26:NM_152498.3(WDR65) c.1262+13A>G,NM_152498.3(WDR65) c.1262+13A>G:0.76,0.76:0.806089,0.806089 1 43664318 . G . . NT END=43665060;NT GT ./. 1 43664319 rs557637660 T TA 8 rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CFAP57/NM_001167965.1/0;CC=c.1428+12dupA;VC=Intron;Gene=CFAP57/NM_152498.3/1;CC=c.1428+12dupA;VC=Intron;Gene=CFAP57/NM_001195831.2/0;CC=c.1428+12dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,T,TA,D:43:23:4:1:1,37,4,1:12,1097,121,34:-0.07,0.00,8.33,1.87:-0.12,0.00,4.91,2.13:0.05,0.00,3.42,-0.26:0.00,0.00,0.58,0.00:0.00,0.00,0.79,0.00:0.00,0.00,0.91,0.00:60,60,60,60:138.0,14.0,22.8,0.0:0,0,0,0:0,0,0,0:43,94,62,104:99,47,89,47:0,25,3,0:-,NM_152498.3(WDR65) c.1428+2_1428+3insA:-,NOT_FOUND:-,NOT_FOUND 1 43665175 . G . . NT END=43672390;NT GT ./. 1 43672604 . G . . NT END=43675413;NT GT ./. 1 43672636 rs11210812 T G 179 nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.5258,A/.,G/0.4742;Gene=CFAP57/NM_001167965.1/0;CC=c.1755+33T>G;VC=Intron;Gene=CFAP57/NM_152498.3/1;CC=c.1755+33T>G;VC=Intron;Gene=CFAP57/NM_001195831.2/0;CC=c.1755+33T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A,G,T:53:14:0:0:1,51,1:11,1569,13:0.21,179.04,0.00:0.00,27.70,0.00:0.21,151.34,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:41.0,37.1,57.0:0,0,0:0,0,0:53,104,88:98,46,63:0,31,0:NM_152498.3(WDR65) c.1755+33T>G,NM_152498.3(WDR65) c.1755+33T>G:0.49,0.49:0.436817,0.436817 1 43675467 rs2453412 G A 458 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=G/0.3051,A/0.6949;Gene=CFAP57/NM_001167965.1/0;CC=c.1809G>A;ProtCh=p.S603=;VC=Silent;Gene=CFAP57/NM_152498.3/1;CC=c.1809G>A;ProtCh=p.S603=;VC=Silent;Gene=CFAP57/NM_001195831.2/0;CC=c.1809G>A;ProtCh=p.S603=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:126:102:0:0:126:3985:458.35:312.42:145.93:1.00:1.00:1.00:60:38.3:0:0:76:71:41:NM_152498.3(WDR65) c.1809G>A (p.(=)),NM_152498.3(WDR65) c.1809G>A (p.(=)):0.73,0.73:0.773566,0.773566 1 43676076 . c . . NT END=43680925;NT GT ./. 1 43680680 rs585275 T A 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3047,A/0.6953;Gene=CFAP57/NM_001195831.2/0;CC=c.1930-246T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:215:24.84:24.84:0.00:1.00:1.00:0.00:60:36.7:0:0:18:133:14:NM_001195831.2(WDR65) c.1930-246T>A,NM_001195831.2(WDR65) c.1930-246T>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 43680855 rs4233492 G A 263 nt VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.007788,A/0.9922;NP=264;Gene=CFAP57/NM_001195831.2/0;CC=c.1930-71G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:64:0:0:70:2300:263.35:220.12:43.23:1.00:1.00:1.00:60:37.0:0:0:53:96:35:NM_001195831.2(WDR65) c.1930-71G>A,NM_001195831.2(WDR65) c.1930-71G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 43681088 . G . . NT END=43685052;NT GT ./. 1 43681184 rs612626 C T 123 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.3047,T/0.6953;Gene=CFAP57/NM_001195831.2/0;CC=c.2091+97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:T:34:7:0:0:34:1068:122.97:17.00:105.98:1.00:1.00:1.00:60:39.2:0:0:123:26:22:NM_001195831.2(WDR65) c.2091+97C>T,NM_001195831.2(WDR65) c.2091+97C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 43684804 rs1152769 C T 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1312,T/0.8688;Gene=CFAP57/NM_001195831.2/0;CC=c.2092-249C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:321:36.83:36.83:0.00:1.00:1.00:0.00:60:50.3:0:0:68:83:13:NM_001195831.2(WDR65) c.2092-249C>T,NM_001195831.2(WDR65) c.2092-249C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 1 43685209 . G . . NT END=43687042;NT GT ./. 1 43687137 . G . . NT END=43687775;NT GT ./. 1 43687967 . G . . NT END=43688494;NT GT ./. 1 43688320 rs4660249 C T 93 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.2598,T/0.7402;Gene=CFAP57/NM_001195831.2/0;CC=c.2533-175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:27:0:0:27:804:93.13:93.13:0.00:1.00:1.00:0.00:60:40.2:0:0:35:116:26:NM_001195831.2(WDR65) c.2533-175C>T,NM_001195831.2(WDR65) c.2533-175C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 1 43688669 . G . . NT END=43689716;NT GT ./. 1 43689876 . G . . NT END=43692653;NT GT ./. 1 43692798 . G . . NT END=43698178;NT GT ./. 1 43692983 rs1152768 A T 75 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.2788,T/0.7212;PC=0.013;Gene=CFAP57/NM_001195831.2/0;CC=c.3009+186A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:0:0:0:20:656:75.13:0.00:75.13:1.00:0.00:1.00:60:41.0:0:0:83:67:27:NM_001195831.2(WDR65) c.3009+186A>T,NM_001195831.2(WDR65) c.3009+186A>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 43697968 rs3120045 G A 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5325,A/0.4675;Gene=CFAP57/NM_001195831.2/0;CC=c.3108+133G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:372:42.45:42.45:0.00:1.00:1.00:0.00:60:35.5:0:0:59:91:24:NM_001195831.2(WDR65) c.3108+133G>A,NM_001195831.2(WDR65) c.3108+133G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 43698296 . G . . NT END=43699949;NT GT ./. 1 43699813 rs3820588 A G 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.2143,G/0.7857;Gene=CFAP57/NM_001195831.2/0;CC=c.3226-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C,G,T:43:42:0:0:1,41,1:9,1119,10:0.16,130.12,0.20:0.16,126.27,0.20:0.00,3.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.97,0.00:60,60,60:144.0,62.4,120.0:0,0,0:0,0,0:128,69,120:22,82,29:0,47,0:NM_001195831.2(WDR65) c.3226-137A>G,NM_001195831.2(WDR65) c.3226-137A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 43699935 rs2477561 C T 421 nt VT=SNV;PN=A;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.005391,T/0.9946;NP=214;Gene=CFAP57/NM_001195831.2/0;CC=c.3226-15C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:114:84:0:0:114:3669:421.06:247.60:173.46:1.00:1.00:1.00:60:40.4:0:0:49:99:35:NM_001195831.2(WDR65) c.3226-15C>T,NM_001195831.2(WDR65) c.3226-15C>T:1,1:NOT_FOUND,NOT_FOUND 1 43700085 . G . . NT END=43700165;NT GT ./. 1 43700140 rs2483688 A G 697 nt VT=SNV;PN=C;NN=C;SST=Single;DP=192;DB;DBA=NA;PAF=A/0.2037,G/0.7963;Gene=CFAP57/NM_001195831.2/0;CC=c.3361-26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:192:122:0:0:192:6063:697.25:321.60:375.66:1.00:1.00:1.00:60:40.5:0:0:69:78:40:NM_001195831.2(WDR65) c.3361-26A>G,NM_001195831.2(WDR65) c.3361-26A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 43700310 . G . . NT END=43708897;NT GT ./. 1 43709031 . G . . NT END=43719647;NT GT ./. 1 43719863 . C . . NT END=43738393;NT GT ./. 1 43738340 rs10890247 A C 118 nt VT=SNV;PN=G;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.4,C/0.6;Gene=TMEM125/NM_144626.2/1;CC=c.-54A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:69:67:0:0:32,37:896,1212:0.00,118.20:0.00,104.95:0.00,13.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.4,44.0:0,0:0,0:35,40:108,108:27,30:-,NM_144626.2(TMEM125) c.-54A>C:-,0.6:-,NOT_FOUND 1 43739054 . C . . NT END=43748455;NT GT ./. 1 43739195 rs72684070 G C 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.9808,C/0.01917;Gene=TMEM125/NM_144626.2/1;CC=c.*142G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:0:0:0:19,20:625,655:59.83,0.00:0.00,0.00:59.83,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.1,9.9:0,0:0,0:99,115:52,35:27,21:NM_144626.2(TMEM125) c.*142G>C,-:0.02,-:NOT_FOUND,- 1 43748779 . C . . NT END=43748922;NT GT ./. 1 43748988 . G . . NT END=43766742;NT GT ./. 1 43766801 . G . . NT END=43770521;NT GT ./. 1 43770837 . G . . NT END=43770903;NT GT ./. 1 43771015 . G . . NT END=43772510;NT GT ./. 1 43771016 rs397840599 TA T 86 nt VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=TA/0.2378,T/0.7622;DB;DBA=NA;PAF=TA/0.2378,T/0.7622;NP=2356;PC=1.000;Gene=TIE1/NM_001253357.1/0;CC=c.349+5delA;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.484+5delA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:44:15:0:27:17,27:539,862:0.00,86.33:0.00,21.62:0.00,64.71:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.2,13.3:0,0:0,0:121,105:30,46:12,28:-,NM_005424.4(TIE1) c.484+3delA:-,0.7:-,0.65599 1 43771090 rs3120044 G A 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.2234,A/0.7766;Gene=TIE1/NM_001253357.1/0;CC=c.349+76G>A;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.484+76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,G:17:2:0:0:11,6:329,182:33.37,0.00:3.24,0.00:30.13,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:32.6,13.2:0,0:0,0:104,117:47,33:26,18:NM_005424.4(TIE1) c.484+76G>A,-:0.72,-:NOT_FOUND,- 1 43772667 . G . . NT END=43772812;NT GT ./. 1 43772945 . G . . NT END=43773102;NT GT ./. 1 43773033 rs2275180 A G 133 nt VT=SNV;PN=T;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.1935,G/0.8065;PC=0.006;Gene=TIE1/NM_001253357.1/0;CC=c.638-70A>G;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.773-70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:112:77:0:0:68,44:2124,1449:0.00,133.30:0.00,63.03:0.00,70.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,38.4:0,0:0,0:77,86:74,65:47,36:-,NM_005424.4(TIE1) c.773-70A>G:-,0.75:-,NOT_FOUND 1 43773244 . G . . NT END=43773466;NT GT ./. 1 43773596 . G . . NT END=43774656;NT GT ./. 1 43774437 rs1467809 G A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2244,A/0.7756;Gene=TIE1/NM_001253357.1/0;CC=c.908-220G>A;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.1043-220G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:7:7:0:0:4,3:134,105:13.23,0.00:13.23,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:71.5,0.0:0,0:0,0:46,45:104,106:17,24:NM_005424.4(TIE1) c.1043-220G>A,-:0.72,-:NOT_FOUND,- 1 43774495 rs2282225 G C 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4139,C/0.5861;PC=0.079;Gene=TIE1/NM_001253357.1/0;CC=c.908-162G>C;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.1043-162G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:15:15:0:0:9,6:283,208:28.20,0.00:28.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:68.8,0.0:0,0:0,0:50,35:91,115:36,11:NM_005424.4(TIE1) c.1043-162G>C,-:0.54,-:NOT_FOUND,- 1 43774803 . G . . NT END=43775058;NT GT ./. 1 43774878 rs2282226 C T 94 nt VT=SNV;PN=T;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.8149,T/0.1851;Gene=TIE1/NM_001253357.1/0;CC=c.1053+76C>T;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.1188+76C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:47:0:0:50,34:1591,1027:0.00,94.27:0.00,33.81:0.00,60.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.5,44.1:0,0:0,0:96,93:54,58:30,35:-,NM_005424.4(TIE1) c.1188+76C>T:-,0.24:-,NOT_FOUND 1 43775204 . G . . NT END=43777341;NT GT ./. 1 43775477 rs6694318 C G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3948,G/0.6052;Gene=TIE1/NM_001253357.1/0;CC=c.1198+274C>G;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.1333+274C>G;VC=Intron;DM=TIE1/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G:7:0:0:0:4,3:132,92:0.00,8.55:0.00,0.00:0.00,8.55:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,84.7:0,0:0,0:112,111:38,40:25,24:-,NM_005424.4(TIE1) c.1333+274C>G:-,0.56:-,NOT_FOUND 1 43777501 . G . . NT END=43777664;NT GT ./. 1 43777803 . G . . NT END=43777975;NT GT ./. 1 43777852 rs1999595 C T 535 nt VT=SNV;PN=C;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=C/0.1895,T/0.8105;PC=0.011;Gene=TIE1/NM_001253357.1/0;CC=c.1495+50C>T;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.1630+50C>T;VC=Intron;DM=TIE1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:143:79:0:0:143:4674:535.46:224.74:310.71:1.00:1.00:1.00:60:41.7:0:0:96:53:38:NM_005424.4(TIE1) c.1630+50C>T,NM_005424.4(TIE1) c.1630+50C>T:0.82,0.82:0.815308,0.815308 1 43778273 . G . . NT END=43778805;NT GT ./. 1 43779097 . G . . NT END=43779448;NT GT ./. 1 43779564 rs3120276 T C 189 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=T/0.1969,C/0.8031;PC=0.005;Gene=TIE1/NM_001253357.1/0;CC=c.2199T>C;ProtCh=p.A733=;VC=Silent;Gene=TIE1/NM_005424.4/1;CC=c.2334T>C;ProtCh=p.A778=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:137:83:0:0:67,70:1986,2380:189.09,0.00:80.30,0.00:108.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,5.8:0,0:0,0:93,99:58,46:34,33:NM_005424.4(TIE1) c.2334T>C (p.(=)),-:0.75,-:0.692603,- 1 43779640 . G . . NT END=43780053;NT GT ./. 1 43779869 rs2991990 T G 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2095,G/0.7905;Gene=TIE1/NM_001253357.1/0;CC=c.2274+230T>G;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.2409+230T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:14:7:0:0:7,7:210,199:20.11,0.00:10.68,0.00:9.43,0.00:1.00,0.00:0.99,0.00:0.99,0.00:60,60:69.6,24.6:0,0:0,0:99,57:52,94:26,31:NM_005424.4(TIE1) c.2409+230T>G,-:0.73,-:NOT_FOUND,- 1 43780272 . g . . NT END=43782869;NT GT ./. 1 43782846 rs1198982 G A 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.1999,A/0.8001;Gene=TIE1/NM_001253357.1/0;CC=c.2275-24G>A;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.2410-24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:61:0:0:27,42:802,1411:72.98,0.00:54.03,0.00:18.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,5.1:0,0:0,0:46,65:104,85:27,28:NM_005424.4(TIE1) c.2410-24G>A,-:0.74,-:0.691066,- 1 43783081 . G . . NT END=43783234;NT GT ./. 1 43783346 . G . . NT END=43783552;NT GT ./. 1 43783744 . G . . NT END=43784905;NT GT ./. 1 43784956 rs1199039 A G 118 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.7742,G/0.2258;PC=1.000;Gene=TIE1/NM_001253357.1/0;CC=c.2838A>G;ProtCh=p.L946=;VC=Silent;Gene=TIE1/NM_005424.4/1;CC=c.2973A>G;ProtCh=p.L991=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:58:0:0:40,36:1325,1235:0.00,117.85:0.00,59.03:0.00,58.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,38.9:0,0:0,0:52,85:93,60:33,30:-,NM_005424.4(TIE1) c.2973A>G (p.(=)):-,0.28:-,0.327849 1 43785020 . G . . NT END=43785129;NT GT ./. 1 43785201 . G . . NT END=43786939;NT GT ./. 1 43786981 . G . . NT END=43787066;NT GT ./. 1 43787164 . G . . NT END=43787286;NT GT ./. 1 43787387 . G . . NT END=43788321;NT GT ./. 1 43788172 rs839997 T C 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.4058,C/0.5942;PC=0.010;Gene=TIE1/NM_001253357.1/0;CC=c.3211-150T>C;VC=Intron;Gene=TIE1/NM_005424.4/1;CC=c.3346-150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:404:47.02:47.02:0.00:1.00:1.00:0.00:60:42.7:0:0:68:82:50:NM_005424.4(TIE1) c.3346-150T>C,NM_005424.4(TIE1) c.3346-150T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 1 43788394 . G . . NT END=43803519;NT GT ./. 1 43803222 rs710252 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8029,A/0.1971;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:5:5:0:0:4,1:127,32:13.52,0.00:13.52,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:66.5,0.0:0,0:0,0:91,0:59,151:23,0:NM_005373.2(MPL) c.-45-u253G>A,-:0.25,-:NOT_FOUND,- 1 43803599 . G . . NT END=43803769;NT GT ./. 1 43803903 . G . . NT END=43804212;NT GT ./. 1 43804392 . G . . NT END=43804941;NT GT ./. 1 43804668 rs77612379 G T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9411,T/0.05891;Gene=MPL/NM_005373.2/1;CC=c.392-274G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,T:4:3:0:0:2,2:66,66:0.00,6.35:0.00,2.67:0.00,3.68:0.00,0.51:0.00,0.89:0.00,0.67:60,60:0.0,33.0:0,0:0,0:88,52:62,98:34,10:-,NM_005373.2(MPL) c.392-274G>T:-,0.06:-,NOT_FOUND 1 43805240 rs16830693 A G 97 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.9409,G/0.05911;PC=1.000;Gene=MPL/NM_005373.2/1;CC=c.690A>G;ProtCh=p.E230=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:35:0:0:49,35:1646,1052:0.00,97.06:0.00,31.36:0.00,65.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,41.7:0,0:0,0:99,106:46,44:30,29:-,NM_005373.2(MPL) c.690A>G (p.(=)):-,0.06:-,0.05436 1 43805241 . G . . NT END=43805634;NT GT ./. 1 43805798 . G . . NT END=43806057;NT GT ./. 1 43806185 . G . . NT END=43812115;NT GT ./. 1 43812075 rs1760670 G A 90 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.7903,A/0.2097;PC=0.001;Gene=MPL/NM_005373.2/1;CC=c.981-41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:52:0:0:29,34:950,1045:89.97,0.00:57.59,0.00:32.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,14.2:0,0:0,0:32,36:118,109:18,24:NM_005373.2(MPL) c.981-41G>A,-:0.27,-:0.329079,- 1 43812301 . G . . NT END=43812462;NT GT ./. 1 43812606 . G . . NT END=43814513;NT GT ./. 1 43814674 . G . . NT END=43814933;NT GT ./. 1 43814864 rs839995 T C 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.7963,C/0.2037;PC=0.065;Gene=MPL/NM_005373.2/1;CC=c.1469-70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:23:0:0:16,26:532,736:48.73,0.00:23.37,0.00:25.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,13.1:0,0:0,0:65,80:85,69:57,55:NM_005373.2(MPL) c.1469-70T>C,-:0.26,-:NOT_FOUND,- 1 43815031 . G . . NT END=43817886;NT GT ./. 1 43817975 . G . . NT END=43818188;NT GT ./. 1 43818444 . G . . NT END=43824886;NT GT ./. 1 43824865 rs1051097 C T 117 nt VT=SNV;PN=C;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.9397,T/0.0603;Gene=CDC20/NM_001255.2/1;CC=c.-22C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:103:90:0:0:64,1,38:2027,7,1283:0.00,-0.23,117.18:0.00,-0.14,94.78:0.00,-0.09,22.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.5,66.0,39.6:0,0,0:0,0,0:38,5,45:105,146,102:22,0,26:-,NM_001255.2(CDC20) c.-22C>T:-,0.05:-,0.054222 1 43825068 . G . . NT END=43825160;NT GT ./. 1 43825310 . G . . NT END=43825395;NT GT ./. 1 43825493 . G . . NT END=43825639;NT GT ./. 1 43825644 rs839763 T C 133 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.771,C/0.229;PC=0.964;Gene=CDC20/NM_001255.2/1;CC=c.432T>C;ProtCh=p.Y144=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:58:0:0:45,48:1399,1596:133.33,0.00:72.08,0.00:61.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,9.0:0,0:0,0:88,70:60,75:28,34:NM_001255.2(CDC20) c.432T>C (p.(=)),-:0.28,-:0.348301,- 1 43825769 . G . . NT END=43825863;NT GT ./. 1 43826061 . G . . NT END=43826169;NT GT ./. 1 43826265 . G . . NT END=43826403;NT GT ./. 1 43826312 rs710251 C A 171 nt VT=SNV;PN=T;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.404,A/0.596;Gene=CDC20/NM_001255.2/1;CC=c.848+48C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:A,T:50:25:0:0:49,1:1483,13:171.18,0.33:83.59,0.00:87.59,0.33:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,34.0:0,0:0,0:80,104:71,46:37,0:NM_001255.2(CDC20) c.848+48C>A,NM_001255.2(CDC20) c.848+48C>A:0.63,0.63:0.664386,0.664386 1 43826633 . G . . NT END=43826790;NT GT ./. 1 43826917 . g . . NT END=43827865;NT GT ./. 1 43827190 rs11210838 C A 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9501,A/0.04992;PC=0.002;Gene=CDC20/NM_001255.2/1;CC=c.1203+274C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,C:6:0:0:0:3,3:80,93:7.62,0.00:0.00,0.00:7.62,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:26.7,22.7:0,0:0,0:118,142:29,9:10,7:NM_001255.2(CDC20) c.1203+274C>A,-:0.08,-:NOT_FOUND,- 1 43827984 . g . . NT END=43828621;NT GT ./. 1 43828801 . A . . NT END=43829586;NT GT ./. 1 43829809 . C . . NT END=43829994;NT GT ./. 1 43830132 . C . . NT END=43830212;NT GT ./. 1 43830319 . C . . NT END=43830408;NT GT ./. 1 43830466 . C . . NT END=43830598;NT GT ./. 1 43830680 . C . . NT END=43830856;NT GT ./. 1 43831048 . C . . NT END=43831234;NT GT ./. 1 43831281 . C . . NT END=43850120;NT GT ./. 1 43831518 rs72671107 T A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9499,A/0.05012;PC=0.285;Gene=ELOVL1/NM_001256399.1/0;CC=c.-14-224A>T;VC=Intron;Gene=ELOVL1/NM_001256401.1/0;CC=c.-14-224A>T;VC=Intron;Gene=ELOVL1/NM_001256402.1/0;CC=c.-66-224A>T;VC=Intron;Gene=ELOVL1/NM_022821.3/1;CC=c.-14-224A>T;VC=Intron;Gene=ELOVL1/NR_046117.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,T:4:0:0:0:3,1:69,28:7.30,0.00:0.00,0.00:7.30,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:67.3,22.0:0,0:0,0:113,18:17,133:28,0:NM_001256399.1(ELOVL1) c.-14-224A>T,-:0.08,-:NOT_FOUND,- 1 43849917 rs12140829 A G 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8964,G/0.1036;PC=0.009;Gene=MED8/NM_001001653.2/0;CC=c.*796T>C;VC=3UTR;Gene=MED8/NM_052877.4/1;CC=c.*204T>C;VC=3UTR;Gene=MED8/NM_201542.4/0;CC=c.*796T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:7,10:233,325:0.00,32.26:0.00,32.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.7,36.7:0,0:0,0:49,36:102,115:30,15:-,NM_052877.3(MED8) c.*204T>C:-,0.1:-,NOT_FOUND 1 43850424 . c . . NT END=43850608;NT GT ./. 1 43850473 rs11172 A G 92 nt VT=SNV;PN=T;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.7889,G/0.2111;PC=0.964;Gene=MED8/NM_001001653.2/0;CC=c.*240T>C;VC=3UTR;Gene=MED8/NM_052877.4/1;CC=c.803+244T>C;VC=Intron;Gene=MED8/NM_201542.4/0;CC=c.*240T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:15:0:0:28,30:815,954:0.00,92.28:0.00,19.93:0.00,72.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,51.0:0,0:0,0:104,108:39,42:30,25:-,NM_052877.3(MED8) c.803+244T>C:-,0.26:-,NOT_FOUND 1 43850778 . C . . NT END=43851648;NT GT ./. 1 43851898 . C . . NT END=43852259;NT GT ./. 1 43852342 . C . . NT END=43852528;NT GT ./. 1 43852670 . C . . NT END=43853173;NT GT ./. 1 43853319 . C . . NT END=43853980;NT GT ./. 1 43854161 . C . . NT END=43855429;NT GT ./. 1 43855436 . T . . NT END=43855639;NT GT ./. 1 43855546 rs839752 A G 156 nt VT=SNV;PN=C;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.772,G/0.228 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:117:79:0:0:63,54:1929,1653:0.00,155.96:0.00,82.83:0.00,73.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,64.7:0,0:0,0:104,81:46,69:29,38:-,NM_015284.3(SZT2) c.-84-u10A>G:-,0.28:-,NOT_FOUND 1 43855578 rs839753 G C 384 nt VT=SNV;PN=C;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.4034,C/0.5966;PC=0.140;Gene=SZT2/NM_015284.3/1;CC=c.-62G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:108:72:0:0:107,1:3346,5:384.09,0.00:192.16,0.00:191.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.8,125.0:0,0:0,0:57,49:94,83:39,0:NM_015284.3(SZT2) c.-62G>C,NM_015284.3(SZT2) c.-62G>C:0.63,0.63:0.660534,0.660534 1 43855667 . G . . NT END=43859709;NT GT ./. 1 43855910 rs839754 C T 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7726,T/0.2274;Gene=SZT2/NM_015284.3/1;CC=c.27+244C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:8:0:0:0:5,3:159,92:0.00,8.33:0.00,0.00:0.00,8.33:0.00,0.67:0.00,0.00:0.00,0.67:60,60:5.0,46.7:0,0:0,0:63,117:87,34:15,8:-,NM_015284.3(SZT2) c.27+244C>T:-,0.28:-,NOT_FOUND 1 43859773 . G . . NT END=43868847;NT GT ./. 1 43868974 . G . . NT END=43869271;NT GT ./. 1 43869235 rs710249 G C 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.7578,A/.,C/0.2422;PC=0.001;Gene=SZT2/NM_015284.3/1;CC=c.154-37G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:70:54:0:0:29,41:889,1205:82.19,0.00:53.76,0.00:28.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,6.7:0,0:0,0:53,54:93,90:41,32:NM_015284.3(SZT2) c.154-37G>C,-:0.3,-:0.375673,- 1 43869446 . G . . NT END=43870050;NT GT ./. 1 43869700 rs115038442 G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9954,A/0.004593;NP=4;PC=0.200;Gene=SZT2/NM_015284.3/1;CC=c.327+255G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:6:3:0:0:3,3:96,86:9.23,0.00:2.78,0.00:6.45,0.00:0.73,0.00:0.89,0.00:0.89,0.00:60,60:41.7,26.0:0,0:0,0:102,110:47,41:12,3:NM_015284.3(SZT2) c.327+255G>A,-:0.01,-:NOT_FOUND,- 1 43870222 . G . . NT END=43880752;NT GT ./. 1 43880885 . G . . NT END=43881630;NT GT ./. 1 43881773 . G . . NT END=43882205;NT GT ./. 1 43881941 rs1999674 A G 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4058,G/0.5942;Gene=SZT2/NM_015284.3/1;CC=c.772+169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G,T:17:5:0:0:16,1:510,9:58.16,0.34:12.56,0.34:45.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.3,162.0:0,0:0,0:91,37:58,109:47,0:NM_015284.3(SZT2) c.772+169A>G,NM_015284.3(SZT2) c.772+169A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 43881999 rs12131502 G A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9489,A/0.05112;Gene=SZT2/NM_015284.3/1;CC=c.773-207G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:9:0:0:8,7:205,214:19.81,0.00:11.29,0.00:8.52,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:76.0,15.6:0,0:0,0:77,17:72,134:17,15:NM_015284.3(SZT2) c.773-207G>A,-:0.05,-:NOT_FOUND,- 1 43882313 . G . . NT END=43885404;NT GT ./. 1 43885616 . G . . NT END=43885823;NT GT ./. 1 43885717 rs12130060 G T 106 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.9631,T/0.03694;PC=0.001;Gene=SZT2/NM_015284.3/1;CC=c.1090+102G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:71:47:0:0:34,37:1098,1093:0.00,105.55:0.00,76.05:0.00,29.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,45.6:0,0:0,0:72,51:79,100:33,44:-,NM_015284.3(SZT2) c.1090+102G>T:-,0.03:-,NOT_FOUND 1 43885995 . G . . NT END=43886419;NT GT ./. 1 43886321 rs2782642 A G 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.7576,G/0.2424;PC=0.527;Gene=SZT2/NM_015284.3/1;CC=c.1262-99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:35:34:0:0:21,1,13:682,10,406:0.00,-0.02,36.96:0.00,0.00,37.36:0.00,-0.03,-0.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.77:60,60,60:8.9,163.0,33.6:0,0,0:0,0,0:59,50,72:87,100,72:37,0,33:-,NM_015284.3(SZT2) c.1262-99A>G:-,0.3:-,NOT_FOUND 1 43886494 rs2782643 C T 189 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.8019,T/0.1981;PC=0.746;Gene=SZT2/NM_015284.3/1;CC=c.1336C>T;ProtCh=p.P446S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:137:105:0:0:1,75,61:9,2434,2000:-0.17,0.00,188.50:-0.12,0.00,120.23:-0.05,0.00,68.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,8.1,39.1:0,0,0:0,0,0:64,79,68:87,72,79:0,36,25:-,NM_015284.3(SZT2) c.1336C>T (p.Pro446Ser):-,0.26:-,0.338856 1 43886655 . G . . NT END=43886844;NT GT ./. 1 43886975 . G . . NT END=43887753;NT GT ./. 1 43887146 rs2782644 G A 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.8017,A/0.1983;PC=0.004;Gene=SZT2/NM_015284.3/1;CC=c.1626+172G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:9,9:290,294:27.87,0.00:0.00,0.00:27.87,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.3,3.9:0,0:0,0:112,106:35,45:24,37:NM_015284.3(SZT2) c.1626+172G>A,-:0.26,-:NOT_FOUND,- 1 43887897 . G . . NT END=43888150;NT GT ./. 1 43888304 . G . . NT END=43888439;NT GT ./. 1 43888555 . G . . NT END=43888769;NT GT ./. 1 43888602 rs2782645 G A 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.7586,A/0.2414;PC=0.001;Gene=SZT2/NM_015284.3/1;CC=c.2037+48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:17:0:0:18,16:572,455:55.62,0.00:22.19,0.00:33.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,12.4:0,0:0,0:58,98:93,51:47,38:NM_015284.3(SZT2) c.2037+48G>A,-:0.3,-:0.371404,- 1 43888988 . G . . NT END=43889887;NT GT ./. 1 43890104 . G . . NT END=43890454;NT GT ./. 1 43890534 . G . . NT END=43890783;NT GT ./. 1 43890879 . G . . NT END=43891144;NT GT ./. 1 43891314 . G . . NT END=43891505;NT GT ./. 1 43891621 . G . . NT END=43891708;NT GT ./. 1 43891823 . G . . NT END=43892038;NT GT ./. 1 43892189 rs2782646 G A 190 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.7804,A/0.2196;PC=0.890;Gene=SZT2/NM_015284.3/1;CC=c.3044-197G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:106:59:0:0:59,1,46:1934,6,1390:190.31,-0.15,0.00:74.03,-0.07,0.00:116.28,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.6,106.0,7.5:0,0,0:0,0,0:86,132,77:63,14,60:35,0,27:NM_015284.3(SZT2) c.3044-197G>A,-:0.28,-:NOT_FOUND,- 1 43892210 . G . . NT END=43892385;NT GT ./. 1 43892481 . G . . NT END=43892726;NT GT ./. 1 43892851 . G . . NT END=43892951;NT GT ./. 1 43893117 . G . . NT END=43893200;NT GT ./. 1 43893406 . G . . NT END=43893673;NT GT ./. 1 43893790 . G . . NT END=43893910;NT GT ./. 1 43894158 . G . . NT END=43895373;NT GT ./. 1 43895516 . G . . NT END=43895681;NT GT ./. 1 43895775 . G . . NT END=43895981;NT GT ./. 1 43896061 . G . . NT END=43896166;NT GT ./. 1 43896461 . G . . NT END=43896619;NT GT ./. 1 43896762 . G . . NT END=43896935;NT GT ./. 1 43897044 . G . . NT END=43897130;NT GT ./. 1 43897195 . G . . NT END=43897386;NT GT ./. 1 43897573 . G . . NT END=43897942;NT GT ./. 1 43898111 . G . . NT END=43898187;NT GT ./. 1 43898276 . G . . NT END=43898398;NT GT ./. 1 43898471 . G . . NT END=43898659;NT GT ./. 1 43898862 . G . . NT END=43900056;NT GT ./. 1 43900157 . G . . NT END=43900870;NT GT ./. 1 43901001 . G . . NT END=43902841;NT GT ./. 1 43901011 rs2039531 A C 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.8011,C/0.1989;Gene=SZT2/NM_015284.3/1;CC=c.5863+11A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:62:32:0:0:34,28:994,855:0.00,80.31:0.00,25.78:0.00,54.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,38.8:0,0:0,0:85,96:59,44:26,18:-,NM_015284.3(SZT2) c.5863+11A>C:-,0.26:-,0.314086 1 43902995 . G . . NT END=43903076;NT GT ./. 1 43903180 . G . . NT END=43903265;NT GT ./. 1 43903372 . G . . NT END=43903461;NT GT ./. 1 43903574 . G . . NT END=43904369;NT GT ./. 1 43903589 rs2782648 G T 107 nt VT=SNV;PN=G;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.7881,C/.,T/0.2119;PC=0.001;Gene=SZT2/NM_015284.3/1;CC=c.6337+16G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:69:28:0:0:34,35:1083,1108:0.00,106.72:0.00,24.38:0.00,82.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,42.9:0,0:0,0:102,100:42,44:27,36:-,NM_015284.3(SZT2) c.6337+16G>T:-,0.28:-,0.335768 1 43903695 rs2842182 A G 69 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4038,G/0.5962;PC=0.146;Gene=SZT2/NM_015284.3/1;CC=c.6337+122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:0:0:0:18:606:69.18:0.00:69.18:1.00:0.00:1.00:60:46.7:0:0:107:44:32:NM_015284.3(SZT2) c.6337+122A>G,NM_015284.3(SZT2) c.6337+122A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 43904316 rs2842184 A G 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.7572,G/0.2428;Gene=SZT2/NM_015284.3/1;CC=c.6338-54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:40:38:0:0:22,1,17:711,10,534:0.00,-0.02,49.90:0.00,0.01,40.41:0.00,-0.03,9.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:9.1,66.0,44.1:0,0,0:0,0,0:42,35,19:108,116,124:28,0,8:-,NM_015284.3(SZT2) c.6338-54A>G:-,0.3:-,NOT_FOUND 1 43904489 . G . . NT END=43904599;NT GT ./. 1 43904765 . G . . NT END=43905028;NT GT ./. 1 43905114 . G . . NT END=43905275;NT GT ./. 1 43905441 . G . . NT END=43905551;NT GT ./. 1 43905720 . G . . NT END=43906123;NT GT ./. 1 43905819 rs2782649 T C 48 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.7997,C/0.2003;PC=0.001;Gene=SZT2/NM_015284.3/1;CC=c.7039+100T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:13:0:0:17,25:520,823:47.76,0.00:20.08,0.00:27.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,8.2:0,0:0,0:107,84:44,67:35,22:NM_015284.3(SZT2) c.7039+100T>C,-:0.27,-:NOT_FOUND,- 1 43906258 . G . . NT END=43906884;NT GT ./. 1 43906482 rs1572272 C T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8031,T/0.1969;PC=0.002;Gene=SZT2/NM_015284.3/1;CC=c.7173+225C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:13:0:0:0:4,9:124,243:0.00,25.04:0.00,0.00:0.00,25.04:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,81.3:0,0:0,0:129,98:22,39:7,10:-,NM_015284.3(SZT2) c.7173+225C>T:-,0.26:-,NOT_FOUND 1 43906896 rs2027130 A G 161 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=A/0.8037,G/0.1963;PC=1.000;Gene=SZT2/NM_015284.3/1;CC=c.7185A>G;ProtCh=p.E2395=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:124:101:0:0:72,52:2250,1726:0.00,160.74:0.00,93.31:0.00,67.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,44.7:0,0:0,0:54,63:91,86:31,25:-,NM_015284.3(SZT2) c.7185A>G (p.(=)):-,0.26:-,0.318392 1 43907052 . G . . NT END=43907174;NT GT ./. 1 43907273 . G . . NT END=43907356;NT GT ./. 1 43907490 . G . . NT END=43907670;NT GT ./. 1 43907802 . G . . NT END=43907938;NT GT ./. 1 43908040 . G . . NT END=43908112;NT GT ./. 1 43908290 . G . . NT END=43908489;NT GT ./. 1 43908758 . G . . NT END=43908858;NT GT ./. 1 43908939 . G . . NT END=43909022;NT GT ./. 1 43909149 . G . . NT END=43909267;NT GT ./. 1 43909265 rs2255632 T C 207 nt VT=SNV;PN=A;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=T/0.779,C/0.221;PC=0.974;Gene=SZT2/NM_015284.3/1;CC=c.8455-3T>C;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:141:100:0:0:67,74:2176,2230:207.24,0.00:109.12,0.00:98.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.6,10.7:0,0:0,0:65,72:81,73:34,32:NM_015284.3(SZT2) c.8455-3T>C,-:0.29,-:0.331155,- 1 43909468 . G . . NT END=43911564;NT GT ./. 1 43911656 . G . . NT END=43911849;NT GT ./. 1 43911931 . G . . NT END=43912012;NT GT ./. 1 43912088 . G . . NT END=43912625;NT GT ./. 1 43912590 rs2782650 A G 135 nt VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.7881,G/0.2119;Gene=SZT2/NM_015284.3/1;CC=c.8902-36A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:92:84:0:0:46,46:1536,1405:0.00,134.64:0.00,96.29:0.00,38.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,40.8:0,0:0,0:61,43:89,100:40,21:-,NM_015284.3(SZT2) c.8902-36A>G:-,0.28:-,0.335614 1 43912840 . G . . NT END=43913215;NT GT ./. 1 43913370 . G . . NT END=43913519;NT GT ./. 1 43913643 . G . . NT END=43913749;NT GT ./. 1 43914156 . G . . NT END=43914282;NT GT ./. 1 43914400 . G . . NT END=43915773;NT GT ./. 1 43915843 . G . . NT END=43916007;NT GT ./. 1 43916152 . G . . NT END=43916908;NT GT ./. 1 43916642 rs6954 T C 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4151,C/0.5849;Gene=SZT2/NM_015284.3/1;CC=c.*491T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:200:23.27:23.27:0.00:1.00:1.00:0.00:60:67.3:0:0:54:93:39:NM_015284.3(SZT2) c.*491T>C,NM_015284.3(SZT2) c.*491T>C:0.61,0.61:0.637251,0.637251 1 43916983 . C . . NT END=43917080;NT GT ./. 1 43917216 . C . . NT END=43917318;NT GT ./. 1 43917389 . C . . NT END=43917468;NT GT ./. 1 43917409 rs2251804 T C 133 nt VT=SNV;PN=A;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.7919,C/0.2081;Gene=SZT2/NM_015284.3/1;CC=c.*1258T>C;VC=3UTR;Gene=HYI/NM_001190880.2/0;CC=c.556-21A>G;VC=Intron;Gene=HYI/NM_001243526.1/1;CC=c.631-21A>G;VC=Intron;Gene=HYI/NM_031207.5/0;CC=c.556-21A>G;VC=Intron;DM=HYI/AP_endonuc_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:82:49:0:0:42,40:1380,1312:133.30,0.00:56.38,0.00:76.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,5.3:0,0:0,0:91,79:60,70:23,26:NM_015284.3(SZT2) c.*1258T>C,-:0.27,-:0.339228,- 1 43917519 . C . . NT END=43917605;NT GT ./. 1 43917637 rs2251802 G A 166 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.777,A/0.223;PC=1.000;Gene=SZT2/NM_015284.3/1;CC=c.*1486G>A;VC=3UTR;Gene=HYI/NM_001190880.2/0;CC=c.474C>T;ProtCh=p.D158=;VC=Silent;Gene=HYI/NM_001243526.1/1;CC=c.549C>T;ProtCh=p.D183=;VC=Silent;Gene=HYI/NM_031207.5/0;CC=c.474C>T;ProtCh=p.D158=;VC=Silent;DM=HYI/AP_endonuc_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:76:0:0:54,61:1748,1933:165.97,0.00:88.64,0.00:77.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,10.8:0,0:0,0:87,74:61,73:29,37:NM_001190880.2(HYI) c.474C>T (p.(=)),-:0.28,-:0.35276,- 1 43917685 . C . . NT END=43917875;NT GT ./. 1 43917991 . C . . NT END=43918573;NT GT ./. 1 43918676 . c . . NT END=43919056;NT GT ./. 1 43919039 . T G 9 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;PC=0.003;Gene=SZT2/NM_015284.3/1;CC=c.*2888T>G;VC=3UTR;Gene=HYI/NM_001190880.2/0;CC=c.311+18A>C;VC=Intron;Gene=HYI/NM_001243526.1/1;CC=c.284+45A>C;VC=Intron;Gene=HYI/NM_031207.5/0;CC=c.311+18A>C;VC=Intron;DM=HYI/AP_endonuc_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:G,T:43:36:0:0:8,35:138,986:8.76,0.00:-2.18,0.00:10.94,0.00:0.97,0.00:1.00,0.00:0.88,0.00:60,60:36.2,8.6:0,0:0,0:24,45:122,103:14,30:NM_015284.3(SZT2) c.*2888T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 43919169 . C . . NT END=43919265;NT GT ./. 1 43919413 rs6692611 A G 521 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=A/0.4042,G/0.5958;PC=0.988;Gene=SZT2/NM_015284.3/1;CC=c.*3262A>G;VC=3UTR;Gene=HYI/NM_001190880.2/0;CC=c.52T>C;ProtCh=p.S18P;VC=Missense;Gene=HYI/NM_001243526.1/1;CC=c.52T>C;ProtCh=p.S18P;VC=Missense;Gene=HYI/NM_031207.5/0;CC=c.52T>C;ProtCh=p.S18P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:144:95:0:0:1,143:10,4548:0.00,521.04:0.00,252.24:0.00,268.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:190.0,40.9:0,0:0,0:37,84:96,63:0,33:NM_001190880.2(HYI) c.52T>C (p.Ser18Pro),NM_001190880.2(HYI) c.52T>C (p.Ser18Pro):0.62,0.62:NOT_FOUND,NOT_FOUND 1 43919743 . A . . NT END=44010746;NT GT ./. 1 43957592 rs71577698 CTGTG C 6 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.090;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:CTGTG,C:3:7:0:6:1,2:29,202:0.00,6.32:0.00,3.04:0.00,3.28:0.00,0.39:0.00,0.39:0.00,0.74:60,60:25.0,18.5:0,4:0,0:147,57:4,78:0,17:-,chr1 g.43957593_43957596delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 44010838 . G . . NT END=44019162;NT GT ./. 1 44019309 . G . . NT END=44019470;NT GT ./. 1 44019613 . G . . NT END=44035260;NT GT ./. 1 44019731 rs2842185 C T 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.1861,T/0.8139;Gene=PTPRF/NM_002840.3/1;CC=c.379+119C>T;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.379+119C>T;VC=Intron;DM=PTPRF/fn3;DM=PTPRF/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:5:0:0:17,20:477,629:0.00,61.35:0.00,3.61:0.00,57.74:0.00,1.00:0.00,0.98:0.00,1.00:60,60:10.2,31.9:0,0:0,0:108,74:43,75:35,31:-,NM_002840.3(PTPRF) c.379+119C>T:-,0.74:-,NOT_FOUND 1 44035450 . G . . NT END=44041580;NT GT ./. 1 44035472 rs943513 G A 66 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.7506,A/0.2494;PC=0.001;Gene=PTPRF/NM_002840.3/1;CC=c.568+23G>A;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.568+23G>A;VC=Intron;DM=PTPRF/fn3;DM=PTPRF/I-set;DM=PTPRF/I-set;DM=PTPRF/fn3;DM=PTPRF/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:51:21:0:0:21,29,1:707,943,11:65.96,0.00,-0.03:17.38,0.00,-0.07:48.59,0.00,0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.7,8.6,60.0:0,0,0:0,0,0:117,91,35:34,46,106:26,31,0:NM_002840.3(PTPRF) c.568+23G>A,-:0.32,-:0.344303,- 1 44041599 . G . . NT END=44044480;NT GT ./. 1 44044592 . G . . NT END=44048752;NT GT ./. 1 44048765 . G . . NT END=44054401;NT GT ./. 1 44054672 . G . . NT END=44056642;NT GT ./. 1 44057225 . G . . NT END=44057482;NT GT ./. 1 44057620 . G . . NT END=44058127;NT GT ./. 1 44057950 rs573350 T C 66 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.349,C/0.651;Gene=PTPRF/NM_002840.3/1;CC=c.1669-178T>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.1669-178T>C;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:13:0:0:18:572:65.73:48.05:17.68:1.00:1.00:1.00:60:44.9:0:0:70:80:37:NM_002840.3(PTPRF) c.1669-178T>C,NM_002840.3(PTPRF) c.1669-178T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 44058265 rs3828151 C A 96 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.5535,A/0.4465;PC=0.005;Gene=PTPRF/NM_002840.3/1;CC=c.1806C>A;ProtCh=p.A602=;VC=Silent;Gene=PTPRF/NM_130440.2/0;CC=c.1806C>A;ProtCh=p.A602=;VC=Silent;DM=PTPRF/Y_phosphatase;DM=PTPRF/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:76:40:0:0:32,43,1:1034,1358,10:96.45,0.00,-0.12:25.43,0.00,-0.11:71.02,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.9,11.6,33.0:0,0,0:0,0,0:92,83,99:54,53,52:32,31,0:NM_002840.3(PTPRF) c.1806C>A (p.(=)),-:0.42,-:0.421728,- 1 44058273 . G . . NT END=44063418;NT GT ./. 1 44058467 rs605709 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8141,T/0.1859;Gene=PTPRF/NM_002840.3/1;CC=c.1813+195C>T;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.1813+195C>T;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,T:8:0:0:0:1,7:30,213:0.00,23.31:0.00,0.00:0.00,23.31:0.00,1.00:0.00,0.00:0.00,1.00:60,60:24.0,41.1:0,0:0,0:110,112:41,39:0,33:-,NM_002840.3(PTPRF) c.1813+195C>T:-,0.26:-,NOT_FOUND 1 44063250 rs562249 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01518,C/0.9848;PC=0.040;Gene=PTPRF/NM_002840.3/1;CC=c.1814-169T>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.1814-169T>C;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:43.0:0:0:67:84:17:NM_002840.3(PTPRF) c.1814-169T>C,NM_002840.3(PTPRF) c.1814-169T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 44063404 . A C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;PC=1.000;Gene=PTPRF/NM_002840.3/1;CC=c.1814-15A>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.1814-15A>C;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,C:27:21:0:0:21,6:605,145:0.00,11.17:0.00,11.98:0.00,-0.81:0.00,0.91:0.00,0.98:0.00,0.85:60,60:35.1,138.2:0,0:0,0:38,62:110,71:24,50:-,NM_002840.3(PTPRF) c.1814-15A>C:-,NOT_FOUND:-,NOT_FOUND 1 44063725 . G . . NT END=44064390;NT GT ./. 1 44064319 rs17849103 A G 84 nt VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.6052,G/0.3948;Gene=PTPRF/NM_002840.3/1;CC=c.2120-72A>G;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.2120-72A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:50:46:0:0:19,30,1:604,844,12:0.00,84.33,0.11:0.00,68.24,0.14:0.00,16.08,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.6,42.4,148.0:0,0,0:0,0,0:35,42,75:105,109,76:18,32,0:-,NM_002840.3(PTPRF) c.2120-72A>G:-,0.38:-,NOT_FOUND 1 44064585 . G . . NT END=44067741;NT GT ./. 1 44067769 . G . . NT END=44069086;NT GT ./. 1 44067859 rs12023161 A G 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.605,G/0.395;PC=1.000;Gene=PTPRF/NM_002840.3/1;CC=c.2340+91A>G;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.2314-1228A>G;VC=Intron;DM=PTPRF/fn3;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:6:0:0:7,9:215,299:0.00,29.43:0.00,9.17:0.00,20.26:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.1,37.3:0,0:0,0:84,124:66,27:34,15:-,NM_002840.3(PTPRF) c.2340+91A>G:-,0.38:-,NOT_FOUND 1 44069205 . G . . NT END=44069281;NT GT ./. 1 44069861 . G . . NT END=44070573;NT GT ./. 1 44070032 rs530373 A G 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3926,G/0.6074;PC=0.002;Gene=PTPRF/NM_002840.3/1;CC=c.3037+172A>G;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3010+172A>G;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:329:37.67:0.00:37.67:1.00:0.00:1.00:60:49.7:0:0:89:62:22:NM_002840.3(PTPRF) c.3037+172A>G,NM_002840.3(PTPRF) c.3037+172A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 44070672 . G . . NT END=44070860;NT GT ./. 1 44070691 rs17371903 A G 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.8129,G/0.1871;Gene=PTPRF/NM_002840.3/1;CC=c.3135+20A>G;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3108+20A>G;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:37:0:0:27,30:866,898:0.00,86.94:0.00,51.29:0.00,35.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,48.4:0,0:0,0:97,82:51,68:27,34:-,NM_002840.3(PTPRF) c.3135+20A>G:-,0.26:-,0.282101 1 44071115 . G . . NT END=44071199;NT GT ./. 1 44071221 rs631248 G A 286 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.3976,A/0.6024;PC=0.976;Gene=PTPRF/NM_002840.3/1;CC=c.3411G>A;ProtCh=p.V1137=;VC=Silent;Gene=PTPRF/NM_130440.2/0;CC=c.3384G>A;ProtCh=p.V1128=;VC=Silent;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:A,C,G:85:47:0:0:82,1,2:2511,9,48:286.08,0.08,0.00:112.76,-0.01,0.00:173.32,0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.4,9.0,93.0:0,0,0:0,0,0:79,100,61:68,51,82:31,0,0:NM_002840.3(PTPRF) c.3411G>A (p.(=)),NM_002840.3(PTPRF) c.3411G>A (p.(=)):0.65,0.65:0.668999,0.668999 1 44071294 . G . . NT END=44071910;NT GT ./. 1 44071796 rs618369 G T 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4,T/0.6;Gene=PTPRF/NM_002840.3/1;CC=c.3484-115G>T;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3457-115G>T;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:29:29:0:0:14,15:394,455:0.00,43.92:0.00,42.12:0.00,1.80:0.00,1.00:0.00,1.00:0.00,0.68:60,60:54.1,72.0:0,0:0,0:52,43:98,106:45,11:-,NM_002840.3(PTPRF) c.3484-115G>T:-,0.64:-,NOT_FOUND 1 44071853 rs512579 T C 223 nt VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.2358,C/0.7642;Gene=PTPRF/NM_002840.3/1;CC=c.3484-58T>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3457-58T>C;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:C:62:58:0:0:62:1936:223.14:182.49:40.64:1.00:1.00:1.00:60:48.3:0:0:44:106:22:NM_002840.3(PTPRF) c.3484-58T>C,NM_002840.3(PTPRF) c.3484-58T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 44072130 . G . . NT END=44072484;NT GT ./. 1 44072420 rs539096 A G 210 nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.277,G/0.723;PC=0.001;Gene=PTPRF/NM_002840.3/1;CC=c.3703-65A>G;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3676-65A>G;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:G:55:44:0:0:55:1841:210.28:140.36:69.92:1.00:1.00:1.00:60:44.1:0:0:50:96:28:NM_002840.3(PTPRF) c.3703-65A>G,NM_002840.3(PTPRF) c.3703-65A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 44072640 . G . . NT END=44075053;NT GT ./. 1 44075170 . G . . NT END=44078438;NT GT ./. 1 44075227 rs517622 T C 108 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.01478,C/0.9852;Gene=PTPRF/NM_002840.3/1;CC=c.3973+58T>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3946+58T>C;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:6:0:0:31:929:107.66:17.63:90.03:1.00:1.00:1.00:60:40.0:0:0:129:22:9:NM_002840.3(PTPRF) c.3973+58T>C,NM_002840.3(PTPRF) c.3973+58T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 44078384 rs499257 T C 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.5347,C/0.4653;PC=0.085;Gene=PTPRF/NM_002840.3/1;CC=c.3974-905T>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3947-905T>C;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:40:0:0:25,21:819,659:80.03,0.00:60.11,0.00:19.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.4,15.4:0,0:0,0:35,32:99,98:26,23:NM_002840.3(PTPRF) c.3974-905T>C,-:0.53,-:NOT_FOUND,- 1 44078472 . G . . NT END=44079288;NT GT ./. 1 44078602 rs3791151 C A 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8227,A/0.1773;Gene=PTPRF/NM_002840.3/1;CC=c.3974-687C>A;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3947-687C>A;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:18:1:0:0:10,8:317,271:31.10,0.00:1.81,0.00:29.29,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:42.3,34.6:0,0:0,0:90,98:59,52:22,40:NM_002840.3(PTPRF) c.3974-687C>A,-:0.25,-:NOT_FOUND,- 1 44078604 rs10890267 A G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8598,G/0.1402;Gene=PTPRF/NM_002840.3/1;CC=c.3974-685A>G;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.3947-685A>G;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:1:0:0:10,7:305,231:0.00,21.45:0.00,-0.12:0.00,21.56:0.00,0.98:0.00,0.61:0.00,0.98:60,60:42.0,34.9:0,0:0,0:100,88:50,63:33,25:-,NM_002840.3(PTPRF) c.3974-685A>G:-,0.12:-,NOT_FOUND 1 44079387 . G . . NT END=44083115;NT GT ./. 1 44079411 rs603542 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.5296,C/0.4704;Gene=PTPRF/NM_002840.3/1;CC=c.4071+25T>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.4044+25T>C;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:19:0:0:18,23:568,758:53.18,0.00:12.47,0.00:40.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,13.9:0,0:0,0:123,99:23,52:22,28:NM_002840.3(PTPRF) c.4071+25T>C,-:0.54,-:0.534984,- 1 44083015 rs653953 G A 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4044,A/0.5956;PC=0.002;Gene=PTPRF/NM_002840.3/1;CC=c.4072-101G>A;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.4045-101G>A;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:21:0:0:15,10:499,297:49.76,0.00:38.71,0.00:11.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.9,24.3:0,0:0,0:36,38:115,107:26,26:NM_002840.3(PTPRF) c.4072-101G>A,-:0.64,-:NOT_FOUND,- 1 44083110 rs571862 C T 242 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.2626,T/0.7374;Gene=PTPRF/NM_002840.3/1;CC=c.4072-6C>T;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.4045-6C>T;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:66:48:0:0:66:2108:242.24:128.82:113.42:1.00:1.00:1.00:60:47.7:0:0:62:82:29:NM_002840.3(PTPRF) c.4072-6C>T,NM_002840.3(PTPRF) c.4072-6C>T:0.77,0.77:0.805167,0.805167 1 44083240 . G . . NT END=44083406;NT GT ./. 1 44083507 rs641365 T C 333 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.2628,C/0.7372,G/.;Gene=PTPRF/NM_002840.3/1;CC=c.4296T>C;ProtCh=p.G1432=;VC=Silent;Gene=PTPRF/NM_130440.2/0;CC=c.4269T>C;ProtCh=p.G1423=;VC=Silent;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:88:68:0:0:88:2916:333.24:181.59:151.65:1.00:1.00:1.00:60:66.4:0:0:79:69:38:NM_002840.3(PTPRF) c.4296T>C (p.(=)),NM_002840.3(PTPRF) c.4296T>C (p.(=)):0.77,0.77:0.805167,0.805167 1 44083519 rs641351 G A 315 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.2628,A/0.7372,T/.;PC=1.000;Gene=PTPRF/NM_002840.3/1;CC=c.4308G>A;ProtCh=p.R1436=;VC=Silent;Gene=PTPRF/NM_130440.2/0;CC=c.4281G>A;ProtCh=p.R1427=;VC=Silent;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:86:63:0:0:86:2739:314.83:156.36:158.46:1.00:1.00:1.00:60:66.8:0:0:68:76:38:NM_002840.3(PTPRF) c.4308G>A (p.(=)),NM_002840.3(PTPRF) c.4308G>A (p.(=)):0.77,0.77:0.80509,0.80509 1 44083583 . G . . NT END=44084300;NT GT ./. 1 44084063 rs80194172 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8584,T/0.1416;PC=1.000;Gene=PTPRF/NM_002840.3/1;CC=c.4372-238C>T;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.4345-238C>T;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,T:10:10:0:0:4,6:115,186:0.00,18.56:0.00,18.56:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,76.7:0,0:0,0:33,48:117,102:20,16:-,NM_002840.3(PTPRF) c.4372-238C>T:-,0.12:-,NOT_FOUND 1 44084083 rs77236314 A G 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8584,G/0.1416;PC=0.891;Gene=PTPRF/NM_002840.3/1;CC=c.4372-218A>G;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.4345-218A>G;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:15:0:0:6,9:199,298:0.00,29.71:0.00,29.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,62.4:0,0:0,0:33,24:116,127:24,16:-,NM_002840.3(PTPRF) c.4372-218A>G:-,0.12:-,NOT_FOUND 1 44084421 . G . . NT END=44084718;NT GT ./. 1 44084620 rs16831024 G T 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.8588,T/0.1412;Gene=PTPRF/NM_002840.3/1;CC=c.4492-99G>T;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.4465-99G>T;VC=Intron;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:17:0:0:14,14:460,426:0.00,40.84:0.00,23.55:0.00,17.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,52.4:0,0:0,0:73,92:75,57:27,45:-,NM_002840.3(PTPRF) c.4492-99G>T:-,0.12:-,NOT_FOUND 1 44084739 rs1143701 C T 194 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.2626,A/.,T/0.7374;PC=1.000;Gene=PTPRF/NM_002840.3/1;CC=c.4512C>T;ProtCh=p.R1504=;VC=Silent;Gene=PTPRF/NM_130440.2/0;CC=c.4485C>T;ProtCh=p.R1495=;VC=Silent;DM=PTPRF/Y_phosphatase;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C,T:57:43:0:0:1,56:14,1696:0.00,194.26:0.00,106.72:0.00,87.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:114.0,38.9:0,0:0,0:1,52:141,94:0,33:NM_002840.3(PTPRF) c.4512C>T (p.(=)),NM_002840.3(PTPRF) c.4512C>T (p.(=)):0.77,0.77:0.80509,0.80509 1 44084874 . G . . NT END=44084958;NT GT ./. 1 44085245 . G . . NT END=44085350;NT GT ./. 1 44085530 . G . . NT END=44085765;NT GT ./. 1 44085893 . G . . NT END=44086124;NT GT ./. 1 44086080 rs568639 T C 157 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=PTPRF/NM_002840.3/1;CC=c.5239-45T>C;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.5212-45T>C;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:29:0:0:42:1369:156.89:91.28:65.61:1.00:1.00:1.00:60:39.2:0:0:48:101:33:NM_002840.3(PTPRF) c.5239-45T>C,NM_002840.3(PTPRF) c.5239-45T>C:0.77,0.77:0.805906,0.805906 1 44086251 . G . . NT END=44086508;NT GT ./. 1 44086664 . G . . NT END=44086767;NT GT ./. 1 44086831 rs1143702 C T 183 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.4295,A/.,T/0.5705;Gene=PTPRF/NM_002840.3/1;CC=c.5583C>T;ProtCh=p.Y1861=;VC=Silent;Gene=PTPRF/NM_130440.2/0;CC=c.5556C>T;ProtCh=p.Y1852=;VC=Silent;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:109:72:0:0:52,57:1627,1889:0.00,183.43:0.00,82.78:0.00,100.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,37.0:0,0:0,0:70,61:69,84:36,41:-,NM_002840.3(PTPRF) c.5583C>T (p.(=)):-,0.58:-,0.637244 1 44086904 . G . . NT END=44087605;NT GT ./. 1 44087141 rs9783098 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.86,A/0.14;PC=0.003;Gene=PTPRF/NM_002840.3/1;CC=c.5655+238G>A;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.5628+238G>A;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:0:0:0:3,1:108,34:11.25,0.00:0.00,0.00:11.25,0.00:0.85,0.00:0.00,0.00:0.85,0.00:70,60:36.0,0.0:0,0:0,0:77,73:73,78:16,0:NM_002840.3(PTPRF) c.5655+238G>A,-:0.12,-:NOT_FOUND,- 1 44087179 rs61702439 TGAAAA T 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TGAAAA/0.86,T/0.14;NP=139;PC=0.024;Gene=PTPRF/NM_002840.3/1;CC=c.5655+277_5655+281delGAAAA;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.5628+277_5628+281delGAAAA;VC=Intron;DM=PTPRF/Y_phosphatase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TGAAAA,T:4:0:0:3:1,3:35,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,70:0.0,36.0:0,0:0,0:111,115:40,35:0,16:-,NM_002840.3(PTPRF) c.5655+277_5655+281delGAAAA:-,0.12:-,NOT_FOUND 1 44087496 rs673485 C T 75 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.2572,T/0.7428;Gene=PTPRF/NM_002840.3/1;CC=c.5656-110C>T;VC=Intron;Gene=PTPRF/NM_130440.2/0;CC=c.5629-110C>T;VC=Intron;DM=PTPRF/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:19:0:0:20:651:74.64:71.76:2.88:1.00:1.00:1.00:60:37.6:0:0:36:114:14:NM_002840.3(PTPRF) c.5656-110C>T,NM_002840.3(PTPRF) c.5656-110C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 44087675 . C . . NT END=44118846;NT GT ./. 1 44118985 . G . . NT END=44121261;NT GT ./. 1 44121438 . G . . NT END=44125968;NT GT ./. 1 44121557 rs2274465 C G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8127,G/0.1873;PC=0.023;Gene=KDM4A/NM_014663.2/1;CC=c.314+120C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:0:0:0:11,12:357,378:0.00,36.62:0.00,0.00:0.00,36.62:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.7,38.9:0,0:0,0:86,133:65,18:34,9:-,NM_014663.2(KDM4A) c.314+120C>G:-,0.26:-,NOT_FOUND 1 44125962 rs397782558 CA C 77 nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=CA/0.4523,C/0.5477;DB;DBA=NA;PAF=CA/0.4523,C/0.5477;NP=2315;PC=0.369;Gene=KDM4A/NM_014663.2/1;CC=c.315-2delA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:52:43:0:25:27,25:850,804:0.00,76.70:0.00,53.32:0.00,23.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,3.2:0,0:0,0:71,46:80,70:35,37:-,NM_014663.2(KDM4A) c.315-6delA:-,0.51:-,NOT_FOUND 1 44126084 . G . . NT END=44128564;NT GT ./. 1 44126143 rs76017264 C T 72 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.877,T/0.123;Gene=KDM4A/NM_014663.2/1;CC=c.429+60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:23:0:1:23,23:733,754:0.00,72.49:0.00,22.28:0.00,50.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,37.5:0,0:0,0:85,67:59,83:29,31:-,NM_014663.2(KDM4A) c.429+60C>T:-,0.1:-,NOT_FOUND 1 44128759 . G . . NT END=44131366;NT GT ./. 1 44131417 . G . . NT END=44132122;NT GT ./. 1 44132227 . G . . NT END=44132624;NT GT ./. 1 44132763 . G . . NT END=44133442;NT GT ./. 1 44133016 rs607062 T C 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2602,C/0.7398;Gene=KDM4A/NM_014663.2/1;CC=c.915+254T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:265:30.31:0.00:30.31:1.00:0.00:1.00:60:38.2:0:0:101:49:19:NM_014663.2(KDM4A) c.915+254T>C,NM_014663.2(KDM4A) c.915+254T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 44133299 rs618678 C T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.7522,T/0.2478;Gene=KDM4A/NM_014663.2/1;CC=c.916-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:19:0:0:13,8:441,240:0.00,21.74:0.00,22.16:0.00,-0.42:0.00,0.99:0.00,1.00:0.00,0.68:60,60:8.3,44.4:0,0:0,0:48,38:103,111:34,34:-,NM_014663.2(KDM4A) c.916-144C>T:-,0.3:-,NOT_FOUND 1 44133691 . G . . NT END=44134770;NT GT ./. 1 44134971 . G . . NT END=44137175;NT GT ./. 1 44137257 rs586339 C A 427 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.2598,A/0.7402,G/.,T/.;PC=0.995;Gene=KDM4A/NM_014663.2/1;CC=c.1445C>A;ProtCh=p.A482E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:119:74:0:0:117,1,1:3739,12,7:427.25,0.00,0.03:218.10,0.00,0.00:209.15,0.00,0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.3,0.0,56.0:0,0,0:0,0,0:63,47,105:83,104,44:32,0,0:NM_014663.2(KDM4A) c.1445C>A (p.Ala482Glu),NM_014663.2(KDM4A) c.1445C>A (p.Ala482Glu):0.76,0.76:0.794326,0.794326 1 44137547 . G . . NT END=44149354;NT GT ./. 1 44149476 . G . . NT END=44154584;NT GT ./. 1 44154479 rs3791035 G C 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.8297,C/0.1703,T/.;Gene=KDM4A/NM_014663.2/1;CC=c.1856-106G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:35:34:0:0:16,19:538,594:50.97,0.00:47.76,0.00:3.20,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:47.6,10.2:0,0:0,0:29,68:121,83:24,20:NM_014663.2(KDM4A) c.1856-106G>C,-:0.23,-:NOT_FOUND,- 1 44154767 . G . . NT END=44156515;NT GT ./. 1 44156721 . G . . NT END=44157166;NT GT ./. 1 44157244 . G . . NT END=44157926;NT GT ./. 1 44157983 . G . . NT END=44159664;NT GT ./. 1 44158129 rs2270972 C G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8195,G/0.1805;Gene=KDM4A/NM_014663.2/1;CC=c.2375+147C>G;VC=Intron;DM=KDM4A/zf-HC5HC2H_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,G:13:0:0:0:8,5:236,165:0.00,15.13:0.00,0.00:0.00,15.13:0.00,0.91:0.00,0.00:0.00,0.91:60,60:3.5,33.0:0,0:0,0:68,76:82,75:38,55:-,NM_014663.2(KDM4A) c.2375+147C>G:-,0.23:-,NOT_FOUND 1 44159774 . G . . NT END=44160379;NT GT ./. 1 44160058 rs3791037 G A 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6817,A/0.3183;Gene=KDM4A/NM_014663.2/1;CC=c.2484+285G>A;VC=Intron;DM=KDM4A/zf-HC5HC2H_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:3:0:0:2,3:69,68:6.40,0.00:6.84,0.00:-0.43,0.00:0.46,0.00:0.80,0.00:0.70,0.00:60,60:43.0,40.7:0,0:0,0:73,106:78,45:8,1:NM_014663.2(KDM4A) c.2484+285G>A,-:0.32,-:NOT_FOUND,- 1 44160186 rs35419389 CA C,CAA 15 idl;end,nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=3;PC=0.370;DM=KDM4A/zf-HC5HC2H_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:57:CA,CAA,C:11:11:5:4:2,5,4:70,149,120:0.00,15.04,11.76:0.00,15.04,11.76:0.00,0.00,0.00:0.00,0.93,0.00:0.00,0.93,0.00:0.00,0.00,0.00:60,60,60:7.0,13.8,40.5:0,0,0:0,0,0:99,73,6:52,78,126:25,36,3:NM_014663.2(KDM4A) c.2485-193delA,NM_014663.2(KDM4A) c.2485-193dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 44160566 . G . . NT END=44163513;NT GT ./. 1 44163685 . G . . NT END=44169287;NT GT ./. 1 44169408 . G . . NT END=44169690;NT GT ./. 1 44169784 . G . . NT END=44169900;NT GT ./. 1 44170042 . G . . NT END=44201933;NT GT ./. 1 44202097 . G . . NT END=44257772;NT GT ./. 1 44224688 rs72678674 G A 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9129,A/0.08706;PC=0.001;Gene=ST3GAL3/NM_001270459.1/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.163+22592G>A;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.163+22592G>A;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.163+22592G>A;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.163+22592G>A;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.163+22592G>A;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.118+22637G>A;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,C,G:7:5:0:0:2,1,4:70,33,82:6.30,2.67,0.00:4.94,2.84,0.00:1.36,-0.17,0.00:0.39,0.00,0.00:0.80,0.00,0.00:0.74,0.00,0.00:60,60,60:35.0,98.0,12.5:0,0,0:0,0,0:118,22,85:32,113,65:10,0,45:NM_174963.3(ST3GAL3) c.163+22592G>A,-:0.13,-:NOT_FOUND,- 1 44237401 rs397694244 TTGTG T 18 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;PC=0.001;Gene=ST3GAL3/NM_001270459.1/0;CC=c.119-20334_119-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.119-20334_119-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.118+35388_118+35391delGTGT;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.118+35388_118+35391delGTGT;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.163+35343_163+35346delGTGT;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.118+35388_118+35391delGTGT;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.163+35343_163+35346delGTGT;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.118+35388_118+35391delGTGT;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.119-20334_119-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.164-20334_164-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.164-20334_164-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.164-20334_164-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.119-20334_119-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.119-20334_119-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.119-20334_119-20331delGTGT;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.118+35388_118+35391delGTGT;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.118+35388_118+35391delGTGT;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.118+35388_118+35391delGTGT;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:5:5:156:17.98:12.82:5.16:1.00:1.00:1.00:60:21.8:0:0:24:116:10:NM_174963.3(ST3GAL3) c.164-20371_164-20368delTGTG,NM_174963.3(ST3GAL3) c.164-20371_164-20368delTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 44257821 . G . . NT END=44280562;NT GT ./. 1 44258040 rs1502907 A G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1136,G/0.8864;Gene=ST3GAL3/NM_001270459.1/0;CC=c.166+220A>G;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.166+220A>G;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.119-22523A>G;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.119-22523A>G;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.164-22523A>G;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.119-22523A>G;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.164-22523A>G;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.119-22523A>G;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.166+220A>G;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.211+220A>G;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.211+220A>G;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.211+220A>G;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.166+220A>G;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.166+220A>G;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.166+220A>G;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.119-22523A>G;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.119-22523A>G;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.119-22523A>G;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:36.0:0:0:121:30:17:NM_174963.3(ST3GAL3) c.211+220A>G,NM_174963.3(ST3GAL3) c.211+220A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 44280381 rs37468 A T 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.114,T/0.886;PC=0.005;Gene=ST3GAL3/NM_001270459.1/0;CC=c.167-182A>T;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.167-182A>T;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.119-182A>T;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.119-182A>T;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.164-182A>T;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.119-182A>T;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.164-182A>T;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.119-182A>T;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.167-182A>T;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.212-182A>T;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.212-182A>T;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.212-182A>T;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.167-182A>T;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.167-182A>T;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.167-182A>T;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.119-182A>T;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.119-182A>T;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.119-182A>T;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:347:39.47:39.47:0.00:1.00:1.00:0.00:60:56.1:0:0:79:71:30:NM_174963.3(ST3GAL3) c.212-182A>T,NM_174963.3(ST3GAL3) c.212-182A>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 44280425 rs3791064 T G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.595,G/0.405;Gene=ST3GAL3/NM_001270459.1/0;CC=c.167-138T>G;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.167-138T>G;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.119-138T>G;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.119-138T>G;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.164-138T>G;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.119-138T>G;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.164-138T>G;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.119-138T>G;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.167-138T>G;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.212-138T>G;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.212-138T>G;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.212-138T>G;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.167-138T>G;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.167-138T>G;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.167-138T>G;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.119-138T>G;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.119-138T>G;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.119-138T>G;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:16:16:0:0:9,7:262,230:25.67,0.00:25.67,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.4,18.4:0,0:0,0:58,26:93,125:41,21:NM_174963.3(ST3GAL3) c.212-138T>G,-:0.4,-:NOT_FOUND,- 1 44280606 . G . . NT END=44290402;NT GT ./. 1 44290445 . c . . NT END=44303890;NT GT ./. 1 44290530 rs37458 A G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=in-clinvar;PAF=A/0.7636,G/0.2364;Gene=ST3GAL3/NM_001270459.1/0;CC=c.209+9925A>G;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.209+9925A>G;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.161+9925A>G;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.161+9925A>G;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.206+9925A>G;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.161+9925A>G;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.206+9925A>G;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.161+9925A>G;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.209+9925A>G;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.382A>G;ProtCh=p.T128A;VC=Missense;Gene=ST3GAL3/NM_174964.2/0;CC=c.254+9925A>G;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.254+9925A>G;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.209+9925A>G;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.209+9925A>G;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.337A>G;ProtCh=p.T113A;VC=Missense;Gene=ST3GAL3/NM_174969.2/0;CC=c.161+9925A>G;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.161+9925A>G;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.289A>G;ProtCh=p.T97A;VC=Missense;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:1:0:0:7,6:186,209:0.00,19.87:0.00,1.87:0.00,18.00:0.00,0.97:0.00,0.64:0.00,0.97:60,60:39.7,39.7:0,0:0,0:77,121:74,29:8,20:-,NM_174963.3(ST3GAL3) c.382A>G (p.Thr128Ala):-,0.27:-,0.335288 1 44303786 rs56058853 C CAAAAAAAAA 9 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2192,CAAAAAAAAA/0.7808,CAAAAAAAAAAA/.;DB;DBA=NA;PAF=C/0.2192,CAAAAAAAAA/0.7808,CAAAAAAAAAAAAA/.;PC=0.653;Gene=ST3GAL3/NM_001270459.1/0;CC=c.210-89_210-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.209+23197_209+23198insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.162-89_162-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.161+23197_161+23198insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.207-89_207-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.162-89_162-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.207-89_207-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.162-89_162-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.210-89_210-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.417-89_417-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.255-89_255-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.255-89_255-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.210-89_210-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.210-89_210-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.372-89_372-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.162-89_162-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.162-89_162-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.324-89_324-88insAAAAAAAAA;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29;DM=ST3GAL3/Glyco_transf_29;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,CAAAAAAAAA:10:10:3:0:7,3:229,98:0.00,8.58:0.00,8.58:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:10.7,23.3:1,0:0,0:108,30:17,113:15,19:-,NM_174963.3(ST3GAL3) c.417-105_417-104insAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 44303984 . G . . NT END=44323806;NT GT ./. 1 44317545 rs3011222 C T 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5387,T/0.4613;PC=0.002;Gene=ST3GAL3/NM_001270459.1/0;CC=c.302+13562C>T;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.209+36940C>T;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.254+13562C>T;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.161+36940C>T;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.299+13562C>T;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.254+13562C>T;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.299+13562C>T;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.254+13562C>T;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.302+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.509+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.347+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.347+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.302+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.302+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.464+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.254+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.254+13562C>T;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.416+13562C>T;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:428:48.98:0.00:48.98:1.00:0.00:1.00:60:45.3:0:0:110:41:18:NM_174963.3(ST3GAL3) c.509+13562C>T,NM_174963.3(ST3GAL3) c.509+13562C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 44323736 rs2906465 T C 205 nt VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.1142,C/0.8858;Gene=ST3GAL3/NM_001270459.1/0;CC=c.302+19753T>C;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.210-36319T>C;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.254+19753T>C;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.162-36319T>C;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.299+19753T>C;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.254+19753T>C;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.299+19753T>C;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.254+19753T>C;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.302+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.509+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.347+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.347+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.302+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.302+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.464+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.254+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.254+19753T>C;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.416+19753T>C;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:51:0:0:55:1786:204.78:172.88:31.90:1.00:1.00:1.00:60:39.0:0:0:67:84:42:NM_174963.3(ST3GAL3) c.509+19753T>C,NM_174963.3(ST3GAL3) c.509+19753T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 44323981 . G . . NT END=44360054;NT GT ./. 1 44324060 rs3011226 G A 245 nt VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.1148,A/0.8852;Gene=ST3GAL3/NM_001270459.1/0;CC=c.302+20077G>A;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.210-35995G>A;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.254+20077G>A;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.162-35995G>A;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.299+20077G>A;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.254+20077G>A;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.299+20077G>A;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.254+20077G>A;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.302+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.509+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.347+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.347+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.302+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.302+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.464+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.254+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.254+20077G>A;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.416+20077G>A;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A,G:66:10:0:0:65,1:2156,11:244.75,0.00:19.60,0.00:225.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,286.0:0,0:0,0:103,101:46,50:31,0:NM_174963.3(ST3GAL3) c.509+20077G>A,NM_174963.3(ST3GAL3) c.509+20077G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 1 44354875 rs55904905 T TACACAC 9 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4379,TAC/.,TACACAC/0.5621;DB;DBA=NA;PAF=T/0.4379,TAC/.,TACAC/.,TACACAC/0.5621,TACACACAC/.;NP=19;NP=23;NP=41;PC=0.016;Gene=ST3GAL3/NM_001270459.1/0;CC=c.303-5150_303-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.210-5150_210-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.255-5150_255-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.162-5150_162-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.300-5150_300-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.255-5150_255-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.300-5150_300-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.255-40899_255-40898insACACAC;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.303-5150_303-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.510-5150_510-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.348-5150_348-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.348-5150_348-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.303-5150_303-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.303-5150_303-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.465-5150_465-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.255-5150_255-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.255-5150_255-5149insACACAC;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.417-5150_417-5149insACACAC;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:T,TACACAC:6:6:5:0:3,3:97,161:0.00,9.44:0.00,4.47:0.00,4.97:0.00,0.67:0.00,0.93:0.00,0.90:60,60:0.0,29.0:0,2:0,0:48,73:31,77:2,15:-,NM_174963.3(ST3GAL3) c.510-5180_510-5179insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 44360150 . G . . NT END=44363906;NT GT ./. 1 44363971 . G . . NT END=44364839;NT GT ./. 1 44364962 . G . . NT END=44365180;NT GT ./. 1 44365400 . G . . NT END=44386075;NT GT ./. 1 44365529 rs783303 G A 60 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2326,A/0.7674;PC=0.002;Gene=ST3GAL3/NM_001270459.1/0;CC=c.744+130G>A;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.651+130G>A;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.696+130G>A;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.603+130G>A;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.554+594G>A;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.509+594G>A;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.*22+568G>A;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.255-30275G>A;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.744+130G>A;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.951+130G>A;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.789+130G>A;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.442+5380G>A;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.744+130G>A;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.397+5380G>A;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.906+130G>A;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.696+130G>A;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.349+5380G>A;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.858+130G>A;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:0:0:1:16:521:59.73:0.00:59.73:1.00:0.00:1.00:60:38.2:0:0:95:55:27:NM_174963.3(ST3GAL3) c.951+130G>A,NM_174963.3(ST3GAL3) c.951+130G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 44386223 . G . . NT END=44386453;NT GT ./. 1 44386305 rs3120802 C T 211 nt VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.2502,T/0.7498;PC=0.012;Gene=ST3GAL3/NM_001270459.1/0;CC=c.801+83C>T;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.798+83C>T;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.697-9499C>T;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.604-9499C>T;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.555-9499C>T;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.510-9499C>T;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.*23-9499C>T;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.255-9499C>T;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.891+83C>T;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.1098+83C>T;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.936+83C>T;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.443-9499C>T;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.745-9499C>T;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.398-9499C>T;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.1053+83C>T;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.843+83C>T;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.350-9499C>T;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.1005+83C>T;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding;DM=ST3GAL3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:T:63:30:0:0:63:1808:210.51:88.75:121.76:1.00:1.00:1.00:60:52.9:0:0:100:44:39:NM_174963.3(ST3GAL3) c.1098+83C>T,NM_174963.3(ST3GAL3) c.1098+83C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 44386601 . G . . NT END=44395803;NT GT ./. 1 44386615 rs3120803 A G 252 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.1909,G/0.8091;Gene=ST3GAL3/NM_001270459.1/0;CC=c.948+15A>G;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.945+15A>G;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.697-9189A>G;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.604-9189A>G;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.555-9189A>G;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.510-9189A>G;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.*23-9189A>G;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.255-9189A>G;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.1038+15A>G;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.1245+15A>G;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.1083+15A>G;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.443-9189A>G;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.745-9189A>G;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.398-9189A>G;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.1200+15A>G;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.990+15A>G;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.350-9189A>G;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.1152+15A>G;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:36:0:0:69:2189:251.64:85.24:166.39:1.00:1.00:1.00:60:49.3:0:0:94:53:29:NM_174963.3(ST3GAL3) c.1245+15A>G,NM_174963.3(ST3GAL3) c.1245+15A>G:0.81,0.81:0.850431,0.850431 1 44395786 rs2108202 C T 166 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.4812,T/0.5188;PC=0.063;Gene=ST3GAL3/NM_001270459.1/0;CC=c.949-18C>T;VC=Intron;Gene=ST3GAL3/NM_001270460.1/0;CC=c.946-18C>T;VC=Intron;Gene=ST3GAL3/NM_001270461.1/0;CC=c.697-18C>T;VC=Intron;Gene=ST3GAL3/NM_001270462.1/0;CC=c.604-18C>T;VC=Intron;Gene=ST3GAL3/NM_001270463.1/0;CC=c.555-18C>T;VC=Intron;Gene=ST3GAL3/NM_001270464.1/0;CC=c.510-18C>T;VC=Intron;Gene=ST3GAL3/NM_001270465.1/0;CC=c.*23-18C>T;VC=Intron;Gene=ST3GAL3/NM_001270466.1/0;CC=c.255-18C>T;VC=Intron;Gene=ST3GAL3/NM_006279.3/0;CC=c.1039-18C>T;VC=Intron;Gene=ST3GAL3/NM_174963.3/1;CC=c.1246-18C>T;VC=Intron;Gene=ST3GAL3/NM_174964.2/0;CC=c.1084-18C>T;VC=Intron;Gene=ST3GAL3/NM_174965.2/0;CC=c.443-18C>T;VC=Intron;Gene=ST3GAL3/NM_174966.2/0;CC=c.745-18C>T;VC=Intron;Gene=ST3GAL3/NM_174967.2/0;CC=c.398-18C>T;VC=Intron;Gene=ST3GAL3/NM_174968.3/0;CC=c.1201-18C>T;VC=Intron;Gene=ST3GAL3/NM_174969.2/0;CC=c.991-18C>T;VC=Intron;Gene=ST3GAL3/NM_174970.2/0;CC=c.350-18C>T;VC=Intron;Gene=ST3GAL3/NM_174971.3/0;CC=c.1153-18C>T;VC=Intron;Gene=ST3GAL3/NR_073016.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073017.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073018.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073019.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073020.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073021.1/0;VC=NonCoding;Gene=ST3GAL3/NR_073023.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C,T:47:38:0:0:1,46:14,1461:0.00,166.05:0.00,95.99:0.00,70.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:208.0,41.3:0,0:0,0:1,57:150,79:0,38:NM_174963.3(ST3GAL3) c.1246-18C>T,NM_174963.3(ST3GAL3) c.1246-18C>T:0.56,0.56:0.595879,0.595879 1 44395894 . G . . NT END=44401328;NT GT ./. 1 44401384 rs2242637 A G 214 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.1631,G/0.8369;PC=0.970;Gene=ARTN/NM_001136215.1/0;CC=c.56A>G;ProtCh=p.Q19R;VC=Missense;Gene=ARTN/NM_057090.2/1;CC=c.56A>G;ProtCh=p.Q19R;VC=Missense;Gene=ARTN/NM_057091.2/0;CC=c.56A>G;ProtCh=p.Q19R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A,G:61:42:0:0:1,60:11,1871:0.00,213.89:0.00,105.09:0.00,108.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:269.0,36.3:0,0:0,0:100,81:51,52:0,31:NM_057090.2(ARTN) c.56A>G (p.Gln19Arg),NM_057090.2(ARTN) c.56A>G (p.Gln19Arg):0.83,0.83:0.872136,0.872136 1 44401389 . G . . NT END=44401740;NT GT ./. 1 44401904 . G . . NT END=44401973;NT GT ./. 1 44402438 . G . . NT END=44413272;NT GT ./. 1 44402565 rs12127737 G A 186 nt VT=SNV;PN=T;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.499,A/0.501;Gene=ARTN/NM_001136215.1/0;CC=c.*128G>A;VC=3UTR;Gene=ARTN/NM_057090.2/1;CC=c.*128G>A;VC=3UTR;Gene=ARTN/NM_057091.2/0;CC=c.*128G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:A:56:5:0:0:56:1592:185.62:12.82:172.80:1.00:1.00:1.00:60:36.2:0:0:107:43:30:NM_057090.2(ARTN) c.*128G>A,NM_057090.2(ARTN) c.*128G>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 44413357 . G . . NT END=44415088;NT GT ./. 1 44415415 rs2240447 C T 338 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.4948,T/0.5052;PC=0.062;Gene=IPO13/NM_014652.3/1;CC=c.411C>T;ProtCh=p.D137=;VC=Silent;DM=IPO13/Xpo1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:95:57:0:0:1,94:10,2941:0.11,338.21:0.11,160.90:0.00,177.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:71.0,38.3:0,0:0,0:45,64:106,87:0,36:NM_014652.3(IPO13) c.411C>T (p.(=)),NM_014652.3(IPO13) c.411C>T (p.(=)):0.55,0.55:0.588421,0.588421 1 44415826 . G . . NT END=44421991;NT GT ./. 1 44416090 rs7556565 C T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4948,T/0.5052;PC=0.512;Gene=IPO13/NM_014652.3/1;CC=c.821+265C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:69.5:0:0:104:46:22:NM_014652.3(IPO13) c.821+265C>T,NM_014652.3(IPO13) c.821+265C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 1 44422133 . G . . NT END=44422231;NT GT ./. 1 44422374 . G . . NT END=44422481;NT GT ./. 1 44422649 . G . . NT END=44422866;NT GT ./. 1 44422988 . G . . NT END=44423073;NT GT ./. 1 44423222 . G . . NT END=44423648;NT GT ./. 1 44423831 . G . . NT END=44423913;NT GT ./. 1 44423941 . G . . NT END=44424132;NT GT ./. 1 44424268 . G . . NT END=44424417;NT GT ./. 1 44424562 . G . . NT END=44425920;NT GT ./. 1 44426002 . G . . NT END=44426547;NT GT ./. 1 44426025 rs2301993 G A 182 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.4591,A/0.5409,T/.;PC=0.003;Gene=IPO13/NM_014652.3/1;CC=c.2109+24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A:51:27:0:0:51:1576:181.79:63.32:118.47:1.00:1.00:1.00:60:35.2:0:0:102:43:26:NM_014652.3(IPO13) c.2109+24G>A,NM_014652.3(IPO13) c.2109+24G>A:0.58,0.58:0.625557,0.625557 1 44426686 . G . . NT END=44426837;NT GT ./. 1 44426935 . G . . NT END=44429940;NT GT ./. 1 44426948 rs2906596 G A 140 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.1783,A/0.8217;PC=0.001;Gene=IPO13/NM_014652.3/1;CC=c.2344+14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:13:0:0:37:1222:139.81:36.58:103.23:1.00:1.00:1.00:60:48.3:0:0:102:49:32:NM_014652.3(IPO13) c.2344+14G>A,NM_014652.3(IPO13) c.2344+14G>A:0.8,0.8:0.860372,0.860372 1 44429994 . G . . NT END=44432246;NT GT ./. 1 44432314 . G . . NT END=44432395;NT GT ./. 1 44432455 . G . . NT END=44432601;NT GT ./. 1 44432500 rs4660759 C G 273 nt VT=SNV;PN=T;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.4551,G/0.5449;Gene=IPO13/NM_014652.3/1;CC=c.2523+46C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:C,G:74:45:0:0:1,73:20,2401:0.00,272.67:0.00,147.57:0.00,125.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:142.0,38.4:0,0:0,0:97,69:47,81:0,37:NM_014652.3(IPO13) c.2523+46C>G,NM_014652.3(IPO13) c.2523+46C>G:0.59,0.59:0.627787,0.627787 1 44432692 . G . . NT END=44432986;NT GT ./. 1 44433169 . G . . NT END=44433257;NT GT ./. 1 44433355 . G . . NT END=44435847;NT GT ./. 1 44435995 . G . . NT END=44436267;NT GT ./. 1 44436381 . G . . NT END=44436637;NT GT ./. 1 44436862 . G . . NT END=44437058;NT GT ./. 1 44437743 . G . . NT END=44437829;NT GT ./. 1 44438007 . G . . NT END=44438086;NT GT ./. 1 44438212 . T . . NT END=44440712;NT GT ./. 1 44440780 . G . . NT END=44441471;NT GT ./. 1 44441521 . G . . NT END=44441761;NT GT ./. 1 44441846 . G . . NT END=44441973;NT GT ./. 1 44442052 . G . . NT END=44442261;NT GT ./. 1 44442332 . G . . NT END=44442444;NT GT ./. 1 44442497 . G . . NT END=44442697;NT GT ./. 1 44442521 rs12410334 A C 222 nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.4407,C/0.5593;Gene=ATP6V0B/NM_001039457.2/0;CC=c.259+25A>C;VC=Intron;Gene=ATP6V0B/NM_001294333.1/0;CC=c.400+25A>C;VC=Intron;Gene=ATP6V0B/NM_004047.4/1;CC=c.400+25A>C;VC=Intron;DM=ATP6V0B/ATP-synt_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:59:36:0:0:59:1935:221.61:102.86:118.75:1.00:1.00:1.00:60:41.9:0:0:87:62:36:NM_004047.3(ATP6V0B) c.400+25A>C,NM_004047.3(ATP6V0B) c.400+25A>C:0.61,0.61:0.618484,0.618484 1 44443680 . A . . NT END=44445683;NT GT ./. 1 44445719 . G . . NT END=44446176;NT GT ./. 1 44446287 . g . . NT END=44446780;NT GT ./. 1 44446634 rs2486006 A G 114 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.1779,G/0.8221;Gene=B4GALT2/NM_003780.4/0;CC=c.-52-147A>G;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.36-147A>G;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.-52-147A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:30:30:0:0:30:994:113.70:111.72:1.99:1.00:1.00:1.00:60:41.7:0:0:46:105:30:NM_030587.2(B4GALT2) c.36-147A>G,NM_030587.2(B4GALT2) c.36-147A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 44447146 . G . . NT END=44447360;NT GT ./. 1 44447597 . G . . NT END=44450536;NT GT ./. 1 44450728 . G . . NT END=44450949;NT GT ./. 1 44451073 . G . . NT END=44451188;NT GT ./. 1 44451110 . GGGGGA G 8 nt VT=DEL;SST=Single;DP=50;PC=0.150;Gene=B4GALT2/NM_003780.4/0;CC=c.863+43_863+47delAGGGG;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.950+43_950+47delAGGGG;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.863+43_863+47delAGGGG;VC=Intron;DM=B4GALT2/Glyco_transf_7C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:GGGGGA,T,G:50:45:0:4:45,1,4:1362,23,123:0.00,0.72,8.20:0.00,0.78,8.45:0.00,-0.06,-0.25:0.00,0.00,0.55:0.00,0.00,0.92:0.00,0.00,0.47:60,60,60:46.2,93.0,101.2:24,0,0:0,0,0:104,2,32:40,149,115:25,0,8:-,NM_030587.2(B4GALT2) c.950+39_950+43delGGGGA:-,NOT_FOUND:-,0.128267 1 44451112 rs200144349 GGGA G 10 idl,nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1;PC=0.150;Gene=B4GALT2/NM_003780.4/0;CC=c.863+43_863+45delAGG;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.950+43_950+45delAGG;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.863+43_863+45delAGG;VC=Intron;DM=B4GALT2/Glyco_transf_7C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:GGGA,G:43:38:0:10:38,5:1162,143:0.00,10.02:0.00,9.53:0.00,0.49:0.00,0.75:0.00,0.96:0.00,0.58:60,60:48.8,50.6:18,0:0,0:104,90:40,54:27,39:-,NM_030587.2(B4GALT2) c.950+41_950+43delGGA:-,0.44:-,0.327357 1 44451113 . GGA G 37 idl,nt VT=DEL;SST=Single;DP=39;PC=0.150;Gene=B4GALT2/NM_003780.4/0;CC=c.863+43_863+44delAG;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.950+43_950+44delAG;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.863+43_863+44delAG;VC=Intron;DM=B4GALT2/Glyco_transf_7C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGA,G:39:35:0:23:26,13:771,419:0.00,37.33:0.00,35.20:0.00,2.13:0.00,1.00:0.00,1.00:0.00,0.94:60,60:43.3,64.8:5,0:0,0:116,89:10,61:16,26:-,NM_030587.2(B4GALT2) c.950+42_950+43delGA:-,NOT_FOUND:-,0.387203 1 44451114 rs371619921 GA G 10 idl,nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=GA/0.2027,G/0.7973;NP=1;PC=0.150;Gene=B4GALT2/NM_003780.4/0;CC=c.863+43delA;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.950+43delA;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.863+43delA;VC=Intron;DM=B4GALT2/Glyco_transf_7C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:GA,G:26:22:0:27:22,4:629,129:0.00,9.97:0.00,10.33:0.00,-0.35:0.00,0.67:0.00,0.93:0.00,0.61:60,60:35.7,85.0:0,0:0,0:121,40:8,103:12,15:-,NM_030587.2(B4GALT2) c.950+43delA:-,NOT_FOUND:-,0.49898 1 44451115 rs78433362 A G 64 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=18;NP=6;NP=7;PC=0.150;Gene=B4GALT2/NM_003780.4/0;CC=c.863+43A>G;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.950+43A>G;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.863+43A>G;VC=Intron;DM=B4GALT2/Glyco_transf_7C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G,T:20:17:0:28:19,1:551,12:63.65,0.50:53.51,0.00:10.15,0.50:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,44.0:0,0:0,0:119,13:8,138:14,0:NM_030587.2(B4GALT2) c.950+43A>G,NM_030587.2(B4GALT2) c.950+43A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 44451123 . TG T 7 nt VT=DEL;SST=Single;DP=42;PC=0.002;Gene=B4GALT2/NM_003780.4/0;CC=c.863+52delG;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.950+52delG;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.863+52delG;VC=Intron;DM=B4GALT2/Glyco_transf_7C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G,TG,T:42:37:0:4:1,1,36,4:14,11,801,112:0.06,-0.12,0.00,7.48:0.15,-0.03,0.00,7.85:-0.09,-0.09,0.00,-0.37:0.00,0.00,0.00,0.58:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.62:60,60,60,60:220.0,11.0,67.0,9.2:1,1,6,1:0,0,0,0:25,142,21,104:126,9,127,43:0,0,15,12:-,NM_030587.2(B4GALT2) c.950+52delG:-,NOT_FOUND:-,NOT_FOUND 1 44451124 rs75761202 G T 83 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.5879,T/0.4121;PC=0.002;Gene=B4GALT2/NM_003780.4/0;CC=c.863+52G>T;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.950+52G>T;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.863+52G>T;VC=Intron;DM=B4GALT2/Glyco_transf_7C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:G,T:37:32:0:5:6,31:80,755:0.00,83.16:0.00,67.00:0.00,16.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.8,74.1:0,4:0,0:112,22:25,129:18,14:-,NM_030587.2(B4GALT2) c.950+52G>T:-,0.41:-,NOT_FOUND 1 44451134 . T G 11 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;Gene=B4GALT2/NM_003780.4/0;CC=c.864-55T>G;VC=Intron;Gene=B4GALT2/NM_030587.2/0;CC=c.951-55T>G;VC=Intron;Gene=B4GALT2/NM_001005417.2/1;CC=c.864-55T>G;VC=Intron;DM=B4GALT2/Glyco_transf_7C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:G,T:43:33:0:0:8,35:156,833:10.53,0.00:11.82,0.00:-1.29,0.00:0.97,0.00:0.99,0.00:0.95,0.00:60,60:110.2,38.9:0,0:0,0:95,26:48,125:23,12:NM_030587.2(B4GALT2) c.951-55T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 44451294 . G . . NT END=44455969;NT GT ./. 1 44456121 . C . . NT END=44457550;NT GT ./. 1 44457215 rs12403025 G A,C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4872,A/0.5128;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:4:4:0:0:3,1:98,10:10.86,0.88:10.86,0.88:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:59.7,69.0:0,0:0,0:92,47:56,104:12,0:NM_152499.1(CCDC24) c.-171-u65G>A,NM_152499.1(CCDC24) c.-171-u65G>C:0.54,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 44457305 rs12403036 G A 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4874,A/0.5126;PC=0.001;Gene=CCDC24/NM_152499.2/1;CC=c.-146G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:288:33.52:33.52:0.00:1.00:1.00:0.00:60:34.7:0:0:28:122:12:NM_152499.1(CCDC24) c.=,NM_152499.1(CCDC24) c.=:0.54,0.54:NOT_FOUND,NOT_FOUND 1 44457677 . G . . NT END=44457883;NT GT ./. 1 44457739 rs76109846 T TC 420 nt VT=INS;SST=Single;DP=128;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2452;Gene=CCDC24/NM_152499.2/1;CC=c.126+64dupC;VC=Intron;DM=CCDC24/CCDC24;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:T,TC:128:63:121:0:7,121:205,3743:0.00,420.18:0.00,172.03:0.00,248.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,11.0:0,0:0,0:148,103:2,48:1,26:NM_152499.1(CCDC24) c.126+63_126+64insC,NM_152499.1(CCDC24) c.126+63_126+64insC:1,1:NOT_FOUND,NOT_FOUND 1 44458060 . G . . NT END=44458194;NT GT ./. 1 44458312 . G . . NT END=44459558;NT GT ./. 1 44459637 . G . . NT END=44460779;NT GT ./. 1 44460835 . G . . NT END=44461272;NT GT ./. 1 44461343 . G . . NT END=44461449;NT GT ./. 1 44461529 . G . . NT END=44461609;NT GT ./. 1 44461833 . A . . NT END=44463223;NT GT ./. 1 44463412 . C . . NT END=44463526;NT GT ./. 1 44463698 . C . . NT END=44466438;NT GT ./. 1 44466540 . C . . NT END=44466627;NT GT ./. 1 44466728 . C . . NT END=44466835;NT GT ./. 1 44466971 . C . . NT END=44467061;NT GT ./. 1 44467300 . C . . NT END=44467984;NT GT ./. 1 44468089 . C . . NT END=44468183;NT GT ./. 1 44468319 . C . . NT END=44468524;NT GT ./. 1 44468658 . C . . NT END=44474024;NT GT ./. 1 44474296 . C . . NT END=44475636;NT GT ./. 1 44474382 . CT C 9 idl,rn VT=DEL;SST=Single;DP=40;NP=5;PC=0.560;Gene=SLC6A9/NM_001261380.1/0;CC=c.332-88delA;VC=Intron;Gene=SLC6A9/NM_006934.3/0;CC=c.377-88delA;VC=Intron;Gene=SLC6A9/NM_201649.3/0;CC=c.539-88delA;VC=Intron;Gene=SLC6A9/NR_048548.1/0;VC=NonCoding;Gene=SLC6A9/NM_001024845.2/1;CC=c.320-88delA;VC=Intron;Gene=SLC6A9/NR_048549.1/0;VC=NonCoding;DM=SLC6A9/SNF;DM=SLC6A9/SNF;DM=SLC6A9/SNF;DM=SLC6A9/SNF;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:CT,T,I,C:37:14:7:4:28,1,4,4:955,10,222,128:0.00,-0.09,9.13,9.43:0.00,-0.08,-0.34,1.10:0.00,-0.01,9.47,8.33:0.00,0.00,0.00,0.59:0.00,0.00,0.00,0.68:0.00,0.00,0.00,0.94:60,60,60,60:10.0,29.0,34.5,48.8:0,0,3,0:0,0,0,0:126,87,54,94:19,64,91,56:16,0,24,5:-,NM_201649.3(SLC6A9) c.539-88delA:-,NOT_FOUND:-,NOT_FOUND 1 44475769 . C . . NT END=44476397;NT GT ./. 1 44475987 rs2486001 T C 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1603,C/0.8397;Gene=SLC6A9/NM_001261380.1/0;CC=c.200-219A>G;VC=Intron;Gene=SLC6A9/NM_006934.3/0;CC=c.245-219A>G;VC=Intron;Gene=SLC6A9/NM_201649.3/0;CC=c.407-219A>G;VC=Intron;Gene=SLC6A9/NR_048548.1/0;VC=NonCoding;Gene=SLC6A9/NM_001024845.2/1;CC=c.188-219A>G;VC=Intron;Gene=SLC6A9/NR_048549.1/0;VC=NonCoding;DM=SLC6A9/SNF;DM=SLC6A9/SNF;DM=SLC6A9/SNF;DM=SLC6A9/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:203:23.59:0.00:23.59:1.00:0.00:1.00:60:42.9:0:0:114:37:24:NM_201649.3(SLC6A9) c.407-219A>G,NM_201649.3(SLC6A9) c.407-219A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 44476555 . C . . NT END=44477232;NT GT ./. 1 44477395 . C . . NT END=44481526;NT GT ./. 1 44481492 rs1325440 T C 278 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.1677,C/0.8323;Gene=SLC6A9/NM_001261380.1/0;CC=c.87+1227A>G;VC=Intron;Gene=SLC6A9/NM_006934.3/0;CC=c.87+1227A>G;VC=Intron;Gene=SLC6A9/NM_201649.3/0;CC=c.87+1227A>G;VC=Intron;Gene=SLC6A9/NR_048548.1/0;VC=NonCoding;Gene=SLC6A9/NM_001024845.2/1;CC=c.31-4938A>G;VC=Intron;Gene=SLC6A9/NR_048549.1/0;VC=NonCoding;DM=SLC6A9/SNF;DM=SLC6A9/SNF;DM=SLC6A9/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:66:0:0:75:2421:277.66:191.76:85.90:1.00:1.00:1.00:60:39.7:0:0:58:85:28:NM_201649.3(SLC6A9) c.87+1227A>G,NM_201649.3(SLC6A9) c.87+1227A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 44481537 . C . . NT END=44482718;NT GT ./. 1 44483013 . C . . NT END=44489919;NT GT ./. 1 44483040 rs375010390 AAC A 72 idl,rn VT=DEL;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;PC=0.667;Gene=SLC6A9/NM_001024845.2/1;CC=c.31-6488_31-6487delGT;VC=Intron;Gene=SLC6A9/NR_048549.1/0;VC=NonCoding;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,A:52:31:0:42:24,28:727,1072:0.00,71.74:0.00,18.06:0.00,53.68:0.00,1.00:0.00,1.00:0.00,1.00:60,70:10.8,29.5:1,12:0,0:125,67:18,83:15,24:-,NM_201649.3(SLC6A9) c.-207-u30_-207-u29delGT:-,NOT_FOUND:-,NOT_FOUND 1 44489957 . G . . NT END=44584579;NT GT ./. 1 44503040 rs2485993 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1791,G/0.8209;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:4:0:0:2,2:68,69:0.00,6.65:0.00,3.33:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.51:60,60:5.5,34.5:0,0:0,0:41,52:109,74:33,16:-,NM_001024845.2(SLC6A9) c.-272-u5876T>C:-,0.82:-,NOT_FOUND 1 44512207 rs369805209 ACACT A 11 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=45;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:ACACT,A:4:4:0:4:1,3:35,103:0.00,10.75:0.00,9.13:0.00,1.63:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,0.0:0,0:0,0:69,79:82,72:0,16:-,chr1 g.44512208_44512211delCACT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 44568237 . TACAC T 10 rn VT=DEL;SST=Single;DP=5;PC=0.045;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TACAC,T:4:5:0:4:1,3:33,131:0.00,10.17:0.00,10.37:0.00,-0.20:0.00,0.78:0.00,0.78:0.00,0.73:60,60:0.0,54.7:0,1:0,0:26,32:26,114:0,11:-,chr1 g.44568238_44568241delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 44568322 rs509261 A G 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1699,G/0.8301;PC=0.090 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:150:17.34:11.32:6.02:1.00:1.00:1.00:60:41.8:0:0:99:41:19:chr1 g.44568321A>G (intergenic),chr1 g.44568321A>G (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 1 44569162 rs1291053 A G 95 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5885,G/0.4115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:27:0:0:28:817:94.96:89.14:5.82:1.00:1.00:1.00:60:47.2:0:0:48:101:25:chr1 g.44569161A>G (intergenic),chr1 g.44569161A>G (intergenic):0.39,0.39:NOT_FOUND,NOT_FOUND 1 44570250 rs1291052 A G 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1811,G/0.8189 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:4:0:0:10:328:37.57:7.55:30.02:1.00:1.00:1.00:60:39.5:0:0:90:42:23:chr1 g.44570249A>G (intergenic),chr1 g.44570249A>G (intergenic):0.8,0.8:NOT_FOUND,NOT_FOUND 1 44584661 . G . . NT END=44595024;NT GT ./. 1 44587895 rs2485646 C T 206 nt VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.7556,T/0.2444;PC=1.000;Gene=KLF17/NM_173484.3/1;CC=c.81+3235C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:T:57:43:0:0:57:1790:206.04:117.32:88.72:1.00:1.00:1.00:60:42.6:0:0:74:69:42:NM_173484.3(KLF17) c.81+3235C>T,NM_173484.3(KLF17) c.81+3235C>T:0.24,0.24:NOT_FOUND,NOT_FOUND 1 44594966 rs2485653 G A 109 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.8784,A/0.1216;PC=0.013;Gene=KLF17/NM_173484.3/1;CC=c.82-59G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:58:0:0:35,34:1127,1124:108.63,0.00:82.05,0.00:26.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,12.7:0,0:0,0:62,45:89,103:24,24:NM_173484.3(KLF17) c.82-59G>A,-:0.15,-:NOT_FOUND,- 1 44595113 rs2429051 G C 150 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.5036,A/.,C/0.4964;Gene=KLF17/NM_173484.3/1;CC=c.170G>C;ProtCh=p.S57T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:110:76:0:0:49,61:1595,2055:150.02,0.00:94.33,0.00:55.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,5.1:0,0:0,0:67,79:81,69:32,39:NM_173484.3(KLF17) c.170G>C (p.Ser57Thr),-:0.55,-:0.539828,- 1 44595410 rs2485652 A G 187 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.7244,G/0.2756;Gene=KLF17/NM_173484.3/1;CC=c.467A>G;ProtCh=p.N156S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:105:74:0:0:47,58:1472,1911:0.00,187.40:0.00,97.96:0.00,89.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,69.5:0,0:0,0:94,77:52,63:30,29:-,NM_173484.3(KLF17) c.467A>G (p.Asn156Ser):-,0.32:-,0.295248 1 44595426 rs2429050 G A 184 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.7248,A/0.2752;Gene=KLF17/NM_173484.3/1;CC=c.483G>A;ProtCh=p.S161=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:109:70:0:0:57,51,1:1897,1516,21:184.46,0.00,0.44:83.98,0.00,0.54:100.48,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.2,11.6,111.0:0,0,0:0,0,0:73,77,50:66,73,100:33,36,0:NM_173484.3(KLF17) c.483G>A (p.(=)),-:0.32,-:0.295294,- 1 44595869 . G . . NT END=44596183;NT GT ./. 1 44595995 rs397725334 G GC 63 rn VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.7224,GC/.,GCCCCCC/0.2758,GCCCCCG/0.001797;DB;DBA=NA;PAF=NA;NP=1359;PC=0.003;Gene=KLF17/NM_173484.3/1;CC=c.925+133dupC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GC,D:54:6:23:1:1,29,23,1:10,906,672,33:-0.07,0.00,62.67,1.82:-0.01,0.00,11.96,-0.01:-0.05,0.00,50.70,1.83:0.00,0.00,1.00,0.00:0.00,0.00,0.95,0.00:0.00,0.00,1.00,0.00:60,60,60,60:80.0,10.7,9.1,0.0:0,0,0,0:0,0,0,0:142,113,80,137:7,38,69,14:0,33,46,0:-,NM_173484.3(KLF17) c.925+127_925+128insC:-,0.32:-,NOT_FOUND 1 44596379 rs34057178 CCAA C 104 PASS VT=DEL;SST=Single;DP=89;DB;DBA=NA;PAF=CCAA/0.7698,C/0.2302;DB;DBA=NA;PAF=CCAA/0.7698,C/0.2302;NP=1156;PC=0.001;Gene=KLF17/NM_173484.3/1;CC=c.1131_1133delCAA;ProtCh=p.N378del;VC=InFrameDel;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCAA,C:89:49:0:35:54,35:1788,1133:0.00,104.10:0.00,34.53:0.00,69.57:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.8,4.8:0,0:0,0:81,87:66,64:47,31:-,NM_173484.3(KLF17) c.1122CAA[3] (p.Asn375[3]):-,0.19:-,0.161581 1 44596429 . G . . NT END=44679425;NT GT ./. 1 44679531 . G . . NT END=44680021;NT GT ./. 1 44679556 rs803369 A G 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.2851,G/0.7149;PC=0.001;Gene=DMAP1/NM_001034023.1/1;CC=c.105+26A>G;VC=Intron;Gene=DMAP1/NM_001034024.1/0;CC=c.105+26A>G;VC=Intron;Gene=DMAP1/NM_019100.4/0;CC=c.105+26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:23:0:0:25,26:798,849:0.00,81.88:0.00,17.59:0.00,64.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,39.5:0,0:0,0:101,102:47,47:23,30:-,NM_019100.4(DMAP1) c.105+26A>G:-,0.67:-,0.707261 1 44680114 . G . . NT END=44680210;NT GT ./. 1 44680289 . G . . NT END=44680374;NT GT ./. 1 44680571 . G . . NT END=44683982;NT GT ./. 1 44680719 rs4660780 G C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.7837,C/0.2163;Gene=DMAP1/NM_001034023.1/1;CC=c.393+149G>C;VC=Intron;Gene=DMAP1/NM_001034024.1/0;CC=c.393+149G>C;VC=Intron;Gene=DMAP1/NM_019100.4/0;CC=c.393+149G>C;VC=Intron;DM=DMAP1/SANT_DAMP1_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:27:0:0:0:10,16,1:344,513,7:31.65,0.00,-0.11:0.00,0.00,0.00:31.65,0.00,-0.11:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.3,12.3,7.0:0,0,0:0,0,0:111,86,31:38,63,119:31,20,0:NM_019100.4(DMAP1) c.393+149G>C,-:0.17,-:NOT_FOUND,- 1 44684142 . G . . NT END=44684259;NT GT ./. 1 44684428 . G . . NT END=44684727;NT GT ./. 1 44684914 . G . . NT END=44685077;NT GT ./. 1 44685150 . G . . NT END=44685477;NT GT ./. 1 44685551 . G . . NT END=44685688;NT GT ./. 1 44685664 rs41270415 C T 224 nt VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.9597,T/0.04034;Gene=DMAP1/NM_001034023.1/1;CC=c.1052-25C>T;VC=Intron;Gene=DMAP1/NM_001034024.1/0;CC=c.1052-25C>T;VC=Intron;Gene=DMAP1/NM_019100.4/0;CC=c.1052-25C>T;VC=Intron;DM=DMAP1/DMAP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:130:92:0:0:59,71:1712,2292:0.00,224.28:0.00,130.29:0.00,93.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.2,43.1:0,0:0,0:69,69:77,82:24,38:-,NM_019100.4(DMAP1) c.1052-25C>T:-,0.04:-,0.057896 1 44686116 . G . . NT END=44686230;NT GT ./. 1 44686291 . G . . NT END=44687229;NT GT ./. 1 44686322 rs12419 T C 106 nt VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.7258,C/0.2742;PC=1.000;Gene=DMAP1/NM_001034023.1/1;CC=c.*32T>C;VC=3UTR;Gene=DMAP1/NM_001034024.1/0;CC=c.*32T>C;VC=3UTR;Gene=DMAP1/NM_019100.4/0;CC=c.*32T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:29:0:0:38,42:1119,1409:105.87,0.00:19.70,0.00:86.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,15.2:0,0:0,0:118,107:29,40:24,26:NM_019100.4(DMAP1) c.*32T>C,-:0.25,-:0.266877,- 1 44687313 . C . . NT END=44707586;NT GT ./. 1 44707477 rs72495666 CACAT C 15 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;Gene=ERI3/NM_001301698.1/0;CC=c.697+6130_697+6133delATGT;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.697+6130_697+6133delATGT;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.598-20169_598-20166delATGT;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.400+6130_400+6133delATGT;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.931+6130_931+6133delATGT;VC=Intron;Gene=ERI3-IT1/NR_110056.1/0;VC=NonCoding;DM=ERI3/RNase_T;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:CACAT,G,C:19:19:0:6:12,1,6:370,13,172:0.00,0.32,15.09:0.00,0.32,15.09:0.00,0.00,0.00:0.00,0.00,0.94:0.00,0.00,0.94:0.00,0.00,0.00:60,60,60:3.4,177.0,22.0:0,0,0:0,0,0:51,145,41:99,5,109:29,0,9:-,NM_024066.1(ERI3) c.931+6130_931+6133delATGT:-,NOT_FOUND:-,NOT_FOUND 1 44707753 . C . . NT END=44713610;NT GT ./. 1 44713711 . C . . NT END=44750506;NT GT ./. 1 44750269 rs325166 G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7218,A/0.2782;Gene=ERI3/NM_001301698.1/0;CC=c.597+238C>T;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.597+238C>T;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.597+238C>T;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.300+238C>T;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.831+238C>T;VC=Intron;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G:7:7:0:0:3,4:89,135:8.25,0.00:8.25,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:47.3,2.8:0,0:0,0:13,70:135,80:4,19:NM_024066.1(ERI3) c.831+238C>T,-:0.25,-:NOT_FOUND,- 1 44750580 . C . . NT END=44773981;NT GT ./. 1 44773839 rs2301767 C T 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7155,T/0.2845;Gene=ERI3/NM_001301698.1/0;CC=c.524+143G>A;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.524+143G>A;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.524+143G>A;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.227+143G>A;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.758+143G>A;VC=Intron;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,T:9:9:0:0:5,4:163,135:0.00,12.72:0.00,12.72:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:6.8,42.2:0,0:0,0:28,49:122,101:26,33:-,NM_024066.1(ERI3) c.758+143G>A:-,0.33:-,NOT_FOUND 1 44774074 . C . . NT END=44778840;NT GT ./. 1 44778901 . C . . NT END=44785299;NT GT ./. 1 44785417 . C . . NT END=44804716;NT GT ./. 1 44804480 rs11210984 G A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7119,A/0.2881;PC=0.486;Gene=ERI3/NM_001301698.1/0;CC=c.255+237C>T;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.255+237C>T;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.255+237C>T;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-43+14042C>T;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.489+237C>T;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T;DM=ERI3/RNase_T;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,G:5:5:0:0:3,2:96,45:9.57,0.00:9.57,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:40.7,91.5:0,0:0,0:65,93:86,42:9,21:NM_024066.1(ERI3) c.489+237C>T,-:0.34,-:NOT_FOUND,- 1 44804995 . C . . NT END=44818521;NT GT ./. 1 44805012 rs372090718 TA T 26 idl,rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=5;PC=0.986;Gene=ERI3/NM_001301698.1/0;CC=c.-23-19delT;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-23-19delT;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-23-19delT;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-43+13509delT;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.212-19delT;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:55:42:4:12:2,39,4,10:40,1214,132,379:1.70,0.00,9.27,25.55:1.96,0.00,7.16,14.43:-0.25,0.00,2.10,11.12:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:30.0,15.7,19.5,14.6:1,0,0,2:0,0,0,0:112,119,81,108:24,27,64,41:30,25,6,13:-,NM_024066.1(ERI3) c.212-19delT:-,NOT_FOUND:-,NOT_FOUND 1 44805031 rs200202142 G A 7 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=59;Gene=ERI3/NM_001301698.1/0;CC=c.-23-37C>T;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-23-37C>T;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-23-37C>T;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-43+13491C>T;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.212-37C>T;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,C,G:44:29:0:2:8,1,35:121,10,1058:7.06,-0.15,0.00:7.07,-0.18,0.00:-0.01,0.03,0.00:0.97,0.00,0.00:0.99,0.00,0.00:0.98,0.00,0.00:60,60,60:41.2,31.0,29.5:0,0,0:0,0,0:108,63,101:23,43,34:23,0,33:NM_024066.1(ERI3) c.212-37C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 44805036 . G A 11 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;NP=71;Gene=ERI3/NM_001301698.1/0;CC=c.-23-42C>T;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-23-42C>T;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-23-42C>T;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-43+13486C>T;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.212-42C>T;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G,I:41:28:1:0:10,30,1:159,807,27:10.93,0.00,1.25:9.97,0.00,-0.17:0.96,0.00,1.43:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:40.6,26.4,33.0:3,5,0:0,0,0:110,106,15:26,33,136:24,31,0:NM_024066.1(ERI3) c.212-42C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 44805040 . G GA 9 idl,rn VT=INS;SST=Single;DP=42;NP=34;Gene=ERI3/NM_001301698.1/0;CC=c.-23-47_-23-46insT;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-23-47_-23-46insT;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-23-47_-23-46insT;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-43+13481_-43+13482insT;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.212-47_212-46insT;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G,GA,D:42:27:4:4:4,31,4,3:100,881,122,73:6.57,0.00,8.69,4.32:3.79,0.00,4.49,-0.61:2.78,0.00,4.19,4.92:0.00,0.00,0.58,0.00:0.00,0.00,0.84,0.00:0.00,0.00,0.80,0.00:60,60,60,60:48.2,31.4,39.0,8.3:1,0,0,0:0,0,0,0:82,109,102,30:35,32,42,118:40,28,10,14:-,NM_024066.1(ERI3) c.212-47_212-46insT:-,NOT_FOUND:-,NOT_FOUND 1 44818337 rs1291178 G T 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4331,T/0.5669;PC=0.027;Gene=ERI3/NM_001301698.1/0;CC=c.-24+2227C>A;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-24+2595C>A;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-24+185C>A;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-43+185C>A;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.211+185C>A;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:290:33.29:33.29:0.00:1.00:1.00:0.00:60:40.2:0:0:50:101:21:NM_024066.1(ERI3) c.211+185C>A,NM_024066.1(ERI3) c.211+185C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 44819375 rs226065 A G 334 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.3371,G/0.6629;PC=0.997;Gene=ERI3/NM_001301698.1/0;CC=c.-24+1189T>C;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-24+1557T>C;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-99-778T>C;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-118-778T>C;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.136-778T>C;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:88:65:0:0:88:2917:333.54:198.59:134.94:1.00:1.00:1.00:60:47.1:0:0:54:93:32:NM_024066.1(ERI3) c.136-778T>C,NM_024066.1(ERI3) c.136-778T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 1 44820248 rs226066 G A 189 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.7216,A/0.2784;PC=0.285;Gene=ERI3/NM_001301698.1/0;CC=c.-24+316C>T;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-24+684C>T;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-100+684C>T;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-119+684C>T;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.135+316C>T;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:129:81:0:0:61,67,1:1987,2161,11:189.27,0.00,-0.13:97.98,0.00,-0.12:91.29,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:55.7,23.6,74.0:0,0,0:0,0,0:78,75,137:73,75,14:36,39,0:NM_024066.1(ERI3) c.135+316C>T,-:0.24,-:NOT_FOUND,- 1 44820319 rs226067 A G 458 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=A/0.01917,G/0.9808;PC=0.038;Gene=ERI3/NM_001301698.1/0;CC=c.-24+245T>C;VC=Intron;Gene=ERI3/NM_001301699.1/0;CC=c.-24+613T>C;VC=Intron;Gene=ERI3/NM_001301700.1/0;CC=c.-100+613T>C;VC=Intron;Gene=ERI3/NM_001301701.1/0;CC=c.-119+613T>C;VC=Intron;Gene=ERI3/NM_024066.2/1;CC=c.135+245T>C;VC=Intron;DM=ERI3/RNase_T;DM=ERI3/RNase_T GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:128:71:0:0:2,125,1:22,4022,10:0.00,457.85,0.08:0.00,213.65,-0.00:0.00,244.19,0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:123.5,50.8,85.0:0,0,0:0,0,0:26,81,60:124,69,91:26,38,0:NM_024066.1(ERI3) c.135+245T>C,NM_024066.1(ERI3) c.135+245T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 44820495 . C . . NT END=44820563;NT GT ./. 1 44821075 . C . . NT END=44877769;NT GT ./. 1 44878395 . G . . NT END=44889500;NT GT ./. 1 44878464 rs12131249 G A 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.9479,A/0.05212;PC=0.001;Gene=RNF220/NM_018150.2/1;CC=c.625+70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:22:0:0:28,33:897,1048:84.78,0.00:24.02,0.00:60.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.9,3.1:0,0:0,0:102,94:48,53:32,21:NM_018150.2(RNF220) c.625+70G>A,-:0.07,-:NOT_FOUND,- 1 44878509 rs11210991 C G 44 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.6867,G/0.3133;PC=0.001;Gene=RNF220/NM_018150.2/1;CC=c.625+115C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:35:0:0:0:20,15:621,474:0.00,44.16:0.00,0.00:0.00,44.16:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.2,99.1:0,0:0,0:119,82:32,69:20,28:-,NM_018150.2(RNF220) c.625+115C>G:-,0.32:-,NOT_FOUND 1 44878549 rs11210992 T C 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6575,C/0.3425;PC=0.178;Gene=RNF220/NM_018150.2/1;CC=c.625+155T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:21:0:0:0:1,12,8:28,392,261:1.79,39.04,0.00:0.00,0.00,0.00:1.79,39.04,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:146.0,90.0,0.0:0,0,0:0,0,0:105,96,123:44,54,28:0,20,16:NM_018150.2(RNF220) c.625+155T>C,-:0.36,-:NOT_FOUND,- 1 44878685 rs10890299 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6649,T/0.3351;Gene=RNF220/NM_018150.2/1;CC=c.625+291C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,T:7:0:0:0:3,4:76,137:0.00,13.54:0.00,0.00:0.00,13.54:0.00,0.90:0.00,0.00:0.00,0.90:60,60:40.3,43.2:0,0:0,0:76,117:75,33:26,13:-,NM_018150.2(RNF220) c.625+291C>T:-,0.34:-,NOT_FOUND 1 44878688 rs6690445 A G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4331,G/0.5669;Gene=RNF220/NM_018150.2/1;CC=c.625+294A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:7:0:0:0:4,3:121,105:0.00,9.86:0.00,0.00:0.00,9.86:0.00,0.69:0.00,0.00:0.00,0.69:60,60:43.2,40.3:0,0:0,0:120,79:30,72:13,26:-,NM_018150.2(RNF220) c.625+294A>G:-,0.55:-,NOT_FOUND 1 44889509 rs1340647 G A 367 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.08886,A/0.9111;PC=0.715;Gene=RNF220/NM_018150.2/1;CC=c.625+11115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:98:84:0:0:98:3206:367.31:257.44:109.86:1.00:1.00:1.00:60:40.0:0:0:59:85:29:NM_018150.2(RNF220) c.625+11115G>A,NM_018150.2(RNF220) c.625+11115G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 44889719 . C . . NT END=45079836;NT GT ./. 1 44963010 rs397702400 G GAC 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=328;Gene=RNF220/NM_018150.2/1;CC=c.625+84643_625+84644insCA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:G,GAC,D:5:4:3:1:1,3,1:34,88,34:0.00,9.17,3.08:0.00,4.93,1.49:0.00,4.23,1.59:0.00,0.78,0.00:0.00,0.97,0.00:0.00,0.94,0.00:60,70,60:0.0,52.0,10.0:0,0,0:0,0,0:131,59,13:19,91,76:0,30,0:-,NM_018150.2(RNF220) c.625+84616_625+84617insAC:-,NOT_FOUND:-,NOT_FOUND 1 44967724 rs56978327 AAC A 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AAC/0.3496,A/0.6504;DB;DBA=NA;PAF=AAC/0.3496,A/0.6504;DB;DBA=NA;PAF=AAC/0.3496,A/0.6504;PC=0.001;Gene=RNF220/NM_018150.2/1;CC=c.625+89377_625+89378delAC;VC=Intron;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AAC,A:4:3:0:3:1,3:34,89:0.00,9.35:0.00,4.73:0.00,4.63:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,45.0:0,0:0,0:122,19:29,126:0,3:-,NM_018150.2(RNF220) c.625+89331_625+89332delAC:-,NOT_FOUND:-,NOT_FOUND 1 44967829 rs113488016 TCACA T 13 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=59;Gene=RNF220/NM_018150.2/1;CC=c.625+89457_625+89460delACAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TCACA,T:5:6:0:7:1,4:33,180:0.00,12.77:0.00,7.07:0.00,5.70:0.00,0.90:0.00,0.99:0.00,0.98:60,70:12.0,41.0:0,2:0,0:126,65:22,86:0,33:-,NM_018150.2(RNF220) c.625+89436_625+89439delCACA:-,NOT_FOUND:-,NOT_FOUND 1 44977588 rs71989348 CGT C,CGTGTGTGTGT 21 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=6;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:22:CGTGTGTGTGT,C:7:6:9:1:6,1:265,34:21.13,2.88:12.34,0.00:8.79,2.88:0.99,0.00:0.99,0.00:0.78,0.00:60,60:22.0,0.0:3,0:0,0:32,95:119,56:20,0:NM_018150.2(RNF220) c.625+99195_625+99196delGT,NM_018150.2(RNF220) c.625+99195GT[5]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 45079526 rs5027088 G A 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8786,A/0.1214;PC=0.017;Gene=RNF220/NM_018150.2/1;CC=c.626-311G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:6:6:0:0:4,2:135,66:13.75,0.00:13.75,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:49.5,0.0:0,0:0,0:26,33:123,118:14,6:NM_018150.2(RNF220) c.626-311G>A,-:0.12,-:NOT_FOUND,- 1 45079970 . G . . NT END=45088413;NT GT ./. 1 45080294 rs3012025 C A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.07708,A/0.9229;Gene=RNF220/NM_018150.2/1;CC=c.758+325C>A;VC=Intron;DM=RNF220/RNF220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:139:16.21:0.00:16.21:1.00:0.00:1.00:60:71.4:0:0:88:62:17:NM_018150.2(RNF220) c.758+325C>A,NM_018150.2(RNF220) c.758+325C>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 45088460 . G . . NT END=45091968;NT GT ./. 1 45088629 rs28453885 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6284,A/0.3716;Gene=RNF220/NM_018150.2/1;CC=c.804+170G>A;VC=Intron;DM=RNF220/RNF220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,G:13:0:0:0:7,6:162,208:15.57,0.00:0.00,0.00:15.57,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:68.0,0.0:1,0:0,0:114,119:37,31:29,4:NM_018150.2(RNF220) c.804+170G>A,-:0.33,-:NOT_FOUND,- 1 45092071 . G . . NT END=45097628;NT GT ./. 1 45097639 rs115428399 T C 292 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=191;DB;DBA=NA;PAF=T/0.764,C/0.236;PC=1.000;Gene=RNF220/NM_018150.2/1;CC=c.907-376T>C;VC=Intron;DM=RNF220/RNF220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:191:166:0:0:92,99:3056,3018:292.05,0.00:198.05,0.00:94.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,11.4:0,0:0,0:70,56:77,92:34,28:NM_018150.2(RNF220) c.907-376T>C,-:0.22,-:NOT_FOUND,- 1 45097881 . G . . NT END=45098014;NT GT ./. 1 45098058 . G . . NT END=45101216;NT GT ./. 1 45100903 rs74793076 C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.858,G/0.142;Gene=RNF220/NM_018150.2/1;CC=c.950-314C>G;VC=Intron;DM=RNF220/RNF220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,G:9:9:0:0:6,3:202,106:0.00,9.54:0.00,9.54:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:28.5,70.0:0,0:0,0:39,43:110,106:13,23:-,NM_018150.2(RNF220) c.950-314C>G:-,0.14:-,NOT_FOUND 1 45100927 rs77778246 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8476,C/0.1524;Gene=RNF220/NM_018150.2/1;CC=c.950-290T>C;VC=Intron;DM=RNF220/RNF220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:8,7:263,201:25.62,0.00:25.62,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.8,24.4:0,0:0,0:16,60:134,91:14,16:NM_018150.2(RNF220) c.950-290T>C,-:0.15,-:NOT_FOUND,- 1 45101339 . G . . NT END=45101701;NT GT ./. 1 45101478 rs2236219 T C 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.6236,C/0.3764;PC=0.015;Gene=RNF220/NM_018150.2/1;CC=c.993+218T>C;VC=Intron;DM=RNF220/RNF220;DM=RNF220/RNF220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:51:18:0:0:29,1,21:924,5,672:91.41,-0.14,0.00:30.18,-0.00,0.00:61.23,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.3,84.0,2.2:0,0,0:0,0,0:73,55,69:78,95,82:45,0,43:NM_018150.2(RNF220) c.993+218T>C,-:0.34,-:NOT_FOUND,- 1 45101835 . G . . NT END=45110369;NT GT ./. 1 45110467 . G . . NT END=45110666;NT GT ./. 1 45110742 rs116503928 C T 103 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.9958,T/0.004193;NP=26;Gene=RNF220/NM_018150.2/1;CC=c.1299C>T;ProtCh=p.G433=;VC=Silent;DM=RNF220/RNF220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:78:53:0:0:41,1,36:1289,9,1088:0.00,-0.13,102.84:0.00,-0.02,45.60:0.00,-0.12,57.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.0,26.0,40.3:0,0,0:0,0,0:96,26,62:49,125,88:34,0,33:-,NM_018150.2(RNF220) c.1299C>T (p.(=)):-,0.0014:-,0.003537 1 45110754 . G . . NT END=45110892;NT GT ./. 1 45110949 . G . . NT END=45111081;NT GT ./. 1 45111161 . G . . NT END=45115332;NT GT ./. 1 45111294 rs78770003 G A 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8594,A/0.1406;PC=0.004;Gene=RNF220/NM_018150.2/1;CC=c.1445+134G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,G:16:0:0:0:11,5:366,160:37.53,0.00:0.00,0.00:37.53,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:44.3,0.0:0,0:0,0:118,121:33,30:16,20:NM_018150.2(RNF220) c.1445+134G>A,-:0.15,-:NOT_FOUND,- 1 45111360 rs12728857 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7248,G/0.2752;PC=0.100;Gene=RNF220/NM_018150.2/1;CC=c.1445+200A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G:4:0:0:0:1,3:36,97:0.00,10.15:0.00,0.00:0.00,10.15:0.00,0.85:0.00,0.00:0.00,0.85:60,60:54.0,83.0:0,0:0,0:54,56:97,76:0,43:-,NM_018150.2(RNF220) c.1445+200A>G:-,0.26:-,NOT_FOUND 1 45115442 . G . . NT END=45115554;NT GT ./. 1 45115630 . G . . NT END=45116375;NT GT ./. 1 45116448 . G . . NT END=45120229;NT GT ./. 1 45120068 rs75614327 A G 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.8055,G/0.1945;Gene=TMEM53/NM_001300746.1/0;CC=c.*163T>C;VC=3UTR;Gene=TMEM53/NM_001300747.1/0;CC=c.*163T>C;VC=3UTR;Gene=TMEM53/NM_001300748.1/0;CC=c.*163T>C;VC=3UTR;Gene=TMEM53/NM_024587.3/1;CC=c.*163T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:20:20:0:0:8,1,11:273,32,305:0.00,2.20,30.03:0.00,2.20,30.03:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,16,60:4.4,194.0,50.5:0,0,0:0,0,0:40,121,26:111,29,125:18,0,20:-,NM_024587.2(TMEM53) c.*163T>C:-,0.19:-,NOT_FOUND 1 45120366 rs139630492 C T 195 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.993,G/.,T/0.006989;NP=45;Gene=TMEM53/NM_001300746.1/0;CC=c.480G>A;ProtCh=p.E160=;VC=Silent;Gene=TMEM53/NM_001300747.1/0;CC=c.609G>A;ProtCh=p.E203=;VC=Silent;Gene=TMEM53/NM_001300748.1/0;CC=c.606G>A;ProtCh=p.E202=;VC=Silent;Gene=TMEM53/NM_024587.3/1;CC=c.699G>A;ProtCh=p.E233=;VC=Silent;DM=TMEM53/DUF829 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:90:0:0:68,64:2166,2043:0.00,195.07:0.00,91.74:0.00,103.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,35.5:0,0:0,0:71,69:76,75:38,38:-,NM_024587.2(TMEM53) c.699G>A (p.(=)):-,0.0046:-,0.00592 1 45120882 . C . . NT END=45125845;NT GT ./. 1 45121045 rs11211020 T C 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.2758,C/0.7242;Gene=TMEM53/NM_001300746.1/0;CC=c.-36-164A>G;VC=Intron;Gene=TMEM53/NM_001300747.1/0;CC=c.184-254A>G;VC=Intron;Gene=TMEM53/NM_001300748.1/0;CC=c.184-257A>G;VC=Intron;Gene=TMEM53/NM_024587.3/1;CC=c.184-164A>G;VC=Intron;DM=TMEM53/DUF829;DM=TMEM53/DUF829;DM=TMEM53/DUF829 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:10,10:292,338:27.94,0.00:0.00,0.00:27.94,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.6,4.0:0,0:0,0:110,130:41,20:7,14:NM_024587.2(TMEM53) c.184-164A>G,-:0.66,-:NOT_FOUND,- 1 45125968 . C . . NT END=45139438;NT GT ./. 1 45139787 . G . . NT END=45140001;NT GT ./. 1 45140064 . G . . NT END=45155369;NT GT ./. 1 45155576 . G . . NT END=45162773;NT GT ./. 1 45162843 . G . . NT END=45163734;NT GT ./. 1 45163902 . G . . NT END=45166594;NT GT ./. 1 45166792 . G . . NT END=45169760;NT GT ./. 1 45169711 rs374584525 TA T 14 idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=9;PC=0.416;Gene=C1orf228/NM_001145636.1/1;CC=c.640-36delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,TA,I,T:39:40:5:6:1,29,3,6:33,836,159,184:1.86,0.00,6.58,14.28:0.84,0.00,5.62,11.98:1.01,0.00,0.96,2.30:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.85:60,60,60,70:33.0,19.9,45.3,17.7:0,0,2,0:0,0,0,0:1,40,54,20:93,97,97,116:0,26,43,18:-,NM_001145636.1(C1orf228) c.640-49delA:-,NOT_FOUND:-,NOT_FOUND 1 45169846 . G . . NT END=45189793;NT GT ./. 1 45170012 rs12088087 A G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4728,G/0.5272;PC=0.038;Gene=C1orf228/NM_001145636.1/1;CC=c.724+167A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,G:11:0:0:0:6,5:154,153:0.00,14.38:0.00,0.00:0.00,14.38:0.00,0.93:0.00,0.00:0.00,0.93:60,60:27.7,30.6:0,0:0,0:118,120:33,30:7,15:-,NM_001145636.1(C1orf228) c.724+167A>G:-,0.55:-,NOT_FOUND 1 45189917 . G . . NT END=45189991;NT GT ./. 1 45190065 . G . . NT END=45190210;NT GT ./. 1 45190341 . G . . NT END=45190433;NT GT ./. 1 45190512 . G . . NT END=45190704;NT GT ./. 1 45190890 . G . . NT END=45190962;NT GT ./. 1 45191076 . C . . NT END=45205604;NT GT ./. 1 45205715 . G . . NT END=45206584;NT GT ./. 1 45206495 rs3795712 G A 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8552,A/0.1448;Gene=KIF2C/NM_001297655.1/0;CC=c.71-90G>A;VC=Intron;Gene=KIF2C/NM_006845.3/1;CC=c.71-90G>A;VC=Intron;DM=KIF2C/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:14:0:0:7,8:197,206:18.54,0.00:15.13,0.00:3.41,0.00:0.99,0.00:1.00,0.00:0.76,0.00:60,60:46.7,16.1:0,0:0,0:26,20:125,130:4,15:NM_006845.3(KIF2C) c.71-90G>A,-:0.16,-:NOT_FOUND,- 1 45206680 . G . . NT END=45212061;NT GT ./. 1 45212432 . G . . NT END=45213055;NT GT ./. 1 45212979 . CA C 14 rn VT=DEL;SST=Single;DP=23;NP=16;Gene=KIF2C/NM_001297655.1/0;CC=c.166-62delA;VC=Intron;Gene=KIF2C/NM_006845.3/1;CC=c.166-62delA;VC=Intron;Gene=KIF2C/NM_001297656.1/0;CC=c.4-62delA;VC=Intron;Gene=KIF2C/NM_001297657.1/0;CC=c.-174-62delA;VC=Intron;DM=KIF2C/Kinesin;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:CA,I,C:22:23:3:5:15,2,5:462,101,167:0.00,4.94,14.18:0.00,4.96,14.23:0.00,-0.02,-0.05:0.00,0.00,0.84:0.00,0.00,0.84:0.00,0.00,0.48:60,60,60:47.3,13.5,2.2:0,1,0:0,0,0:81,75,32:70,76,119:50,44,20:-,NM_006845.3(KIF2C) c.166-76delA:-,NOT_FOUND:-,NOT_FOUND 1 45213158 . G . . NT END=45213323;NT GT ./. 1 45213373 . G . . NT END=45216113;NT GT ./. 1 45216237 . G . . NT END=45218803;NT GT ./. 1 45218542 rs6688710 T C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5116,C/0.4884;Gene=KIF2C/NM_001297655.1/0;CC=c.440-863T>C;VC=Intron;Gene=KIF2C/NM_006845.3/1;CC=c.440-262T>C;VC=Intron;Gene=KIF2C/NM_001297656.1/0;CC=c.278-262T>C;VC=Intron;Gene=KIF2C/NM_001297657.1/0;CC=c.101-262T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:7:7:0:0:3,4:98,121:9.16,0.00:9.16,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:32.7,2.8:0,0:0,0:30,56:121,94:18,7:NM_006845.3(KIF2C) c.440-262T>C,-:0.49,-:NOT_FOUND,- 1 45218927 . G . . NT END=45219404;NT GT ./. 1 45219506 . G . . NT END=45220421;NT GT ./. 1 45220518 . G . . NT END=45221600;NT GT ./. 1 45221656 . G . . NT END=45221746;NT GT ./. 1 45221910 . G . . NT END=45223227;NT GT ./. 1 45223319 . G . . NT END=45223579;NT GT ./. 1 45223644 . G . . NT END=45223720;NT GT ./. 1 45223813 . G . . NT END=45224877;NT GT ./. 1 45223901 rs540703016 TATTAGCTG T 26 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=TATTAGCTG/0.5373,T/0.4627;DB;DBA=NA;PAF=NA;NP=413;Gene=KIF2C/NM_001297655.1/0;CC=c.1101+98_1101+105delATTAGCTG;VC=Intron;Gene=KIF2C/NM_006845.3/1;CC=c.1224+98_1224+105delATTAGCTG;VC=Intron;Gene=KIF2C/NM_001297656.1/0;CC=c.1062+98_1062+105delATTAGCTG;VC=Intron;Gene=KIF2C/NM_001297657.1/0;CC=c.885+98_885+105delATTAGCTG;VC=Intron;DM=KIF2C/Kinesin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TATTAGCTG,T:25:2:0:10:15,10:475,281:0.00,25.55:0.00,2.37:0.00,23.18:0.00,1.00:0.00,0.70:0.00,1.00:60,70:1.8,17.5:0,0:0,0:131,81:20,70:16,15:-,NM_006845.3(KIF2C) c.1224+90_1224+97delATTAGCTG:-,0.45:-,NOT_FOUND 1 45224757 rs16832228 G A 45 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.5373,A/0.4627;Gene=KIF2C/NM_001297655.1/0;CC=c.1102-121G>A;VC=Intron;Gene=KIF2C/NM_006845.3/1;CC=c.1225-121G>A;VC=Intron;Gene=KIF2C/NM_001297656.1/0;CC=c.1063-121G>A;VC=Intron;Gene=KIF2C/NM_001297657.1/0;CC=c.886-121G>A;VC=Intron;DM=KIF2C/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:29:0:0:14,16:468,449:44.54,0.00:43.72,0.00:0.82,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:35.4,12.3:0,0:0,0:76,35:75,115:25,19:NM_006845.3(KIF2C) c.1225-121G>A,-:0.45,-:NOT_FOUND,- 1 45224937 rs139373762 G A 164 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.9988,A/0.001198;NP=24;PC=1.000;Gene=KIF2C/NM_001297655.1/0;CC=c.1161G>A;ProtCh=p.Q387=;VC=Silent;Gene=KIF2C/NM_006845.3/1;CC=c.1284G>A;ProtCh=p.Q428=;VC=Silent;Gene=KIF2C/NM_001297656.1/0;CC=c.1122G>A;ProtCh=p.Q374=;VC=Silent;Gene=KIF2C/NM_001297657.1/0;CC=c.945G>A;ProtCh=p.Q315=;VC=Silent;DM=KIF2C/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:107:84:0:0:52,55:1713,1843:163.86,0.00:95.80,0.00:68.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,3.6:0,0:0,0:67,73:84,71:28,28:NM_006845.3(KIF2C) c.1284G>A (p.(=)),-:NOT_FOUND,-:0.003229,- 1 45225021 . G . . NT END=45225951;NT GT ./. 1 45226157 . G . . NT END=45226263;NT GT ./. 1 45226375 . G . . NT END=45227587;NT GT ./. 1 45227656 . G . . NT END=45228017;NT GT ./. 1 45228124 . G . . NT END=45228216;NT GT ./. 1 45228331 . G . . NT END=45232497;NT GT ./. 1 45232622 . G . . NT END=45232768;NT GT ./. 1 45232852 . C . . NT END=45241268;NT GT ./. 1 45241113 rs11211031 T C 70 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.5373,C/0.4627 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:33:0:0:22,11:690,352:70.39,0.00:68.64,0.00:1.75,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:47.1,13.5:0,0:0,0:27,73:124,78:17,41:NM_001012.1(RPS8) c.-23-u133T>C,-:0.45,-:NOT_FOUND,- 1 45241273 . G . . NT END=45241705;NT GT ./. 1 45241374 rs3806398 G A 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.8512,A/0.1488;PC=0.001;Gene=RPS8/NM_001012.1/1;CC=c.4+102G>A;VC=Intron;DM=RPS8/Ribosomal_S8e;DM=RPS8/Ribosomal_S8e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:31:10:0:0:22,1,8:709,9,252:73.78,0.10,0.00:13.56,-0.04,0.00:60.22,0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.0,66.0,1.4:0,0,0:0,0,0:107,22,59:36,129,91:27,0,37:NM_001012.1(RPS8) c.4+102G>A,-:0.16,-:NOT_FOUND,- 1 45241813 . G . . NT END=45242346;NT GT ./. 1 45242447 . G . . NT END=45243285;NT GT ./. 1 45243462 . G . . NT END=45243671;NT GT ./. 1 45243802 . G . . NT END=45244247;NT GT ./. 1 45244358 . A . . NT END=45249881;NT GT ./. 1 45245945 . C CT 8 end,rn VT=INS;SST=Single;DP=19;NP=11;PC=0.785;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,CT,D:19:17:3:1:15,3,1:507,99,33:0.00,7.81,2.15:0.00,7.88,-0.33:0.00,-0.07,2.48:0.00,0.51,0.00:0.00,0.89,0.00:0.00,0.41,0.00:60,60,60:15.9,19.7,0.0:0,0,0:0,0,0:48,10,26:103,141,125:21,0,0:-,chr1 g.45245945_45245946insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 45246243 rs11211032 C A 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7935,A/0.2065;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:11:0:0:12,15:406,448:38.32,0.00:12.55,0.00:25.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,17.9:0,0:0,0:69,86:81,62:48,32:chr1 g.45246242C>A (intergenic),-:0.23,-:NOT_FOUND,- 1 45246333 rs112502872 T C 27 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8618,C/0.1382;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:14:4:0:0:8,6:271,194:26.76,0.00:0.90,0.00:25.87,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:36.6,31.5:0,0:0,0:90,103:61,47:24,10:chr1 g.45246332T>C (intergenic),-:0.15,-:NOT_FOUND,- 1 45250007 rs59895800 C G 215 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=C/0.8568,G/0.1432;Gene=BEST4/NM_153274.2/1;CC=c.1297G>C;ProtCh=p.V433L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:155:119:0:0:85,70:2683,2280:0.00,215.02:0.00,121.41:0.00,93.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,48.4:0,0:0,0:79,82:66,66:36,34:-,NM_153274.2(BEST4) c.1297G>C (p.Val433Leu):-,0.16:-,NOT_FOUND 1 45250156 . C . . NT END=45250300;NT GT ./. 1 45250456 . C . . NT END=45250576;NT GT ./. 1 45250658 . C . . NT END=45250779;NT GT ./. 1 45250978 . C . . NT END=45251270;NT GT ./. 1 45251349 . C . . NT END=45251745;NT GT ./. 1 45251901 . C . . NT END=45252134;NT GT ./. 1 45252015 rs41269079 T A 52 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.862,A/0.138;PC=0.019;Gene=BEST4/NM_153274.2/1;CC=c.482-115A>T;VC=Intron;DM=BEST4/Bestrophin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:36:19:0:0:19,17:539,564:52.07,0.00:25.85,0.00:26.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,3.2:0,0:0,0:102,65:49,86:27,24:NM_153274.2(BEST4) c.482-115A>T,-:0.15,-:NOT_FOUND,- 1 45252369 . C . . NT END=45253043;NT GT ./. 1 45252815 rs397980059 CT C 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.096;Gene=BEST4/NM_153274.2/1;CC=c.247+228delA;VC=Intron;DM=BEST4/Bestrophin;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CT,C:3:3:0:3:1,2:27,97:0.00,6.45:0.00,2.98:0.00,3.48:0.00,0.51:0.00,0.89:0.00,0.67:60,60:35.0,102.0:0,1:0,0:88,50:22,100:0,30:-,NM_153274.2(BEST4) c.247+228delA:-,NOT_FOUND:-,NOT_FOUND 1 45253139 . C . . NT END=45253225;NT GT ./. 1 45253378 . G . . NT END=45266135;NT GT ./. 1 45253628 rs6429548 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5683,C/0.4317 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,T:6:0:0:0:5,1:141,32:15.27,0.00:0.00,0.00:15.27,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:46.0,11.0:0,0:0,0:138,48:12,103:11,0:NM_153274.2(BEST4) c.-49-u202A>G,-:0.42,-:NOT_FOUND,- 1 45266346 . G . . NT END=45266511;NT GT ./. 1 45266620 . G . . NT END=45266707;NT GT ./. 1 45266825 . G . . NT END=45267293;NT GT ./. 1 45266875 rs55930125 C CT 7 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.896;Gene=PLK3/NM_004073.2/1;CC=c.435+75_435+76insT;VC=Intron;DM=PLK3/Pkinase;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,C,T,CT,D:19:5:7:1:1,12,2,3,1:16,340,44,195,33:0.55,0.00,2.86,7.35,2.18:-0.05,0.00,-0.10,0.80,-0.05:0.60,0.00,2.96,6.56,2.23:0.00,0.00,0.00,0.47,0.00:0.00,0.00,0.00,0.49,0.00:0.00,0.00,0.00,0.89,0.00:40,60,60,60,60:149.0,23.6,94.5,59.3,0.0:0,0,2,4,0:0,0,0,0,0:32,133,89,73,20:95,17,62,77,131:0,11,3,26,0:-,NM_004073.2(PLK3) c.435+51_435+52insT:-,NOT_FOUND:-,NOT_FOUND 1 45267424 . G . . NT END=45267516;NT GT ./. 1 45267605 . G . . NT END=45268431;NT GT ./. 1 45268382 rs12404160 G A 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.8682,A/0.1318;Gene=PLK3/NM_004073.2/1;CC=c.654-50G>A;VC=Intron;DM=PLK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:47:45:0:0:26,1,20:744,8,606:73.08,-0.07,0.00:53.00,-0.04,0.00:20.07,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.7,50.0,11.9:0,0,0:0,0,0:43,141,43:104,10,104:34,0,35:NM_004073.2(PLK3) c.654-50G>A,-:0.14,-:0.14434,- 1 45268528 . G . . NT END=45268626;NT GT ./. 1 45268826 . G . . NT END=45268939;NT GT ./. 1 45269064 . G . . NT END=45269271;NT GT ./. 1 45269364 . G . . NT END=45269602;NT GT ./. 1 45269697 . G . . NT END=45269834;NT GT ./. 1 45269919 . G . . NT END=45270010;NT GT ./. 1 45270174 . G . . NT END=45270321;NT GT ./. 1 45270452 . G . . NT END=45270937;NT GT ./. 1 45270733 rs4520451 G T 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8684,T/0.1316;PC=0.002;Gene=PLK3/NM_004073.2/1;CC=c.1636-205G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:G,T:11:9:0:0:5,6:151,192:0.00,18.77:0.00,13.04:0.00,5.72:0.00,0.98:0.00,1.00:0.00,0.83:60,60:17.8,36.7:0,0:0,0:69,62:82,88:37,37:-,NM_004073.2(PLK3) c.1636-205G>T:-,0.14:-,NOT_FOUND 1 45270786 . A T 7 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;NP=9;PC=0.001;Gene=PLK3/NM_004073.2/1;CC=c.1636-152A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,T:17:16:0:0:14,3:449,88:0.00,6.79:0.00,6.88:0.00,-0.08:0.00,0.53:0.00,0.91:0.00,0.45:60,60:23.8,71.3:7,0:0,0:71,7:78,144:30,0:-,NM_004073.2(PLK3) c.1636-152A>T:-,NOT_FOUND:-,NOT_FOUND 1 45270790 rs34617431 T TAAAG 22 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8684,TAAAG/0.1316;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8684,TAAAG/0.1316;NP=50;NP=8;PC=0.002;Gene=PLK3/NM_004073.2/1;CC=c.1636-141_1636-140insGAAA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:G,T,TAAAG:16:15:7:0:4,5,7:111,153,224:9.98,0.00,21.98:10.10,0.00,22.23:-0.13,0.00,-0.25:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.62:60,60,60:61.5,27.2,23.0:0,0,0:0,0,0:11,90,52:140,58,99:1,36,22:-,NM_004073.2(PLK3) c.1636-148_1636-147insAAAG:-,NOT_FOUND:-,NOT_FOUND 1 45271052 . G . . NT END=45271158;NT GT ./. 1 45271351 . G . . NT END=45271674;NT GT ./. 1 45271828 rs17885815 T C 419 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=260;DB;DBA=NA;PAF=T/0.8638,C/0.1362;PC=1.000;Gene=TCTEX1D4/NM_001013632.3/1;CC=c.513A>G;ProtCh=p.V171=;VC=Silent;DM=TCTEX1D4/Tctex-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:260:180:0:0:2,131,1,126:21,4335,12,3923:-0.25,418.68,-0.15,0.00:-0.22,220.46,-0.04,0.00:-0.03,198.22,-0.11,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:19.5,39.7,77.0,7.0:0,0,0,0:0,0,0,0:51,67,139,81:100,83,11,67:28,37,0,35:NM_001013632.2(TCTEX1D4) c.513A>G (p.(=)),-:0.14,-:0.133344,- 1 45272405 . A G 203 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=146;Gene=TCTEX1D4/NM_001013632.3/1;CC=c.-8+51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:146:77:0:0:75,1,69,1:2395,8,2133,12:0.00,-0.19,202.81,-0.11:0.00,-0.12,64.47,-0.00:0.00,-0.07,138.34,-0.11:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:7.3,43.0,33.8,77.0:0,0,0,0:0,0,0,0:73,93,83,76:76,58,68,75:35,0,34,0:-,NM_001013632.2(TCTEX1D4) c.-8+51T>C:-,NOT_FOUND:-,NOT_FOUND 1 45272762 . T . . NT END=45274492;NT GT ./. 1 45274579 . G . . NT END=45275884;NT GT ./. 1 45274841 rs3923304 T C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8756,C/0.1244;PC=0.002;Gene=BTBD19/NM_001136537.1/1;CC=c.86+263T>C;VC=Intron;DM=BTBD19/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,T:5:0:0:0:3,2:67,36:6.63,0.00:0.00,0.00:6.63,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:26.3,25.5:0,0:0,0:89,96:61,54:51,26:NM_001136537.1(BTBD19) c.86+263T>C,-:0.13,-:NOT_FOUND,- 1 45276099 . G . . NT END=45276225;NT GT ./. 1 45276280 . G . . NT END=45277710;NT GT ./. 1 45276427 rs3795718 G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8548,A/0.1452;Gene=BTBD19/NM_001136537.1/1;CC=c.354+148G>A;VC=Intron;DM=BTBD19/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:9,8:201,277:19.15,0.00:0.00,0.00:19.15,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.4,1.8:0,0:0,0:127,71:24,79:21,22:NM_001136537.1(BTBD19) c.354+148G>A,-:0.16,-:NOT_FOUND,- 1 45277771 . G . . NT END=45278667;NT GT ./. 1 45278364 rs4399197 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9513,T/0.04872;Gene=BTBD19/NM_001136537.1/1;CC=c.415-304C>T;VC=Intron;DM=BTBD19/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:5:0:0:2,3:70,99:0.00,9.87:0.00,10.07:0.00,-0.20:0.00,0.78:0.00,0.78:0.00,0.73:60,60:0.0,37.0:0,0:0,0:109,48:40,103:31,17:-,NM_001136537.1(BTBD19) c.415-304C>T:-,0.06:-,NOT_FOUND 1 45278737 . G . . NT END=45278809;NT GT ./. 1 45278942 . G . . NT END=45279045;NT GT ./. 1 45279172 . G . . NT END=45279309;NT GT ./. 1 45279445 . T . . NT END=45287427;NT GT ./. 1 45279716 rs11584031 G C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5535,C/0.4465;Gene=BTBD19/NM_001136537.1/1;CC=c.*272G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G:5:0:0:0:3,2:94,69:9.37,0.00:0.00,0.00:9.37,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:48.0,0.0:0,0:0,0:122,135:29,16:17,10:NM_001136537.1(BTBD19) c.*272G>C,-:0.43,-:NOT_FOUND,- 1 45288342 . C . . NT END=45288740;NT GT ./. 1 45288841 . C . . NT END=45288914;NT GT ./. 1 45289058 . C . . NT END=45291921;NT GT ./. 1 45291708 rs12408763 G T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.886,T/0.114;PC=0.001;Gene=PTCH2/NM_001166292.1/1;CC=c.3114+214C>A;VC=Intron;Gene=PTCH2/NM_003738.4/0;CC=c.3114+214C>A;VC=Intron;DM=PTCH2/Patched GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:G,T:13:13:0:0:6,7:166,234:0.00,22.86:0.00,22.86:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:44.7,34.7:0,0:0,0:46,33:104,117:12,5:-,NM_001166292.1(PTCH2) c.3114+214C>A:-,0.12:-,NOT_FOUND 1 45292060 . C . . NT END=45292159;NT GT ./. 1 45292441 . C . . NT END=45292573;NT GT ./. 1 45292866 rs2295996 G A 174 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=G/0.8522,A/0.1478,T/.;PC=0.991;Gene=PTCH2/NM_001166292.1/1;CC=c.2487C>T;ProtCh=p.D829=;VC=Silent;Gene=PTCH2/NM_003738.4/0;CC=c.2487C>T;ProtCh=p.D829=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:124:67:0:0:56,68:1845,2156:174.18,0.00:59.65,0.00:114.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,13.2:0,0:0,0:90,60:57,81:30,22:NM_001166292.1(PTCH2) c.2487C>T (p.(=)),-:0.16,-:0.139474,- 1 45292982 . C . . NT END=45293073;NT GT ./. 1 45293387 . C . . NT END=45293514;NT GT ./. 1 45293518 rs7525308 A G 95 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.5545,G/0.4455;PC=0.994;Gene=PTCH2/NM_001166292.1/1;CC=c.2055T>C;ProtCh=p.A685=;VC=Silent;Gene=PTCH2/NM_003738.4/0;CC=c.2055T>C;ProtCh=p.A685=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:61:0:0:50,33:1627,1033:0.00,94.78:0.00,37.71:0.00,57.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,41.7:0,0:0,0:53,62:91,89:37,29:-,NM_001166292.1(PTCH2) c.2055T>C (p.(=)):-,0.43:-,0.424419 1 45293864 . C . . NT END=45293967;NT GT ./. 1 45294087 . C . . NT END=45294177;NT GT ./. 1 45294156 rs2273940 T C 180 nt VT=SNV;PN=C;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.5567,C/0.4433;Gene=PTCH2/NM_001166292.1/1;CC=c.1590+22A>G;VC=Intron;Gene=PTCH2/NM_003738.4/0;CC=c.1590+22A>G;VC=Intron;DM=PTCH2/Sterol-sensing GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:116:75:0:0:60,56:1867,1863:180.37,0.00:87.27,0.00:93.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,9.9:0,0:0,0:74,72:71,77:38,30:NM_001166292.1(PTCH2) c.1590+22A>G,-:0.43,-:0.421498,- 1 45294304 . C . . NT END=45294653;NT GT ./. 1 45294747 . C . . NT END=45294828;NT GT ./. 1 45294985 . C . . NT END=45295073;NT GT ./. 1 45295206 . C . . NT END=45295285;NT GT ./. 1 45295434 . C . . NT END=45295580;NT GT ./. 1 45295703 . C . . NT END=45296519;NT GT ./. 1 45295911 rs5773854 G GTA 9 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2664,GTA/0.7336;NP=124;PC=0.041;Gene=PTCH2/NM_001166292.1/1;CC=c.814-210_814-209insTA;VC=Intron;Gene=PTCH2/NM_003738.4/0;CC=c.814-210_814-209insTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:G,GTA:12:0:3:0:9,3:278,100:0.00,8.50:0.00,0.00:0.00,8.50:0.00,0.59:0.00,0.00:0.00,0.59:60,60:10.6,0.0:0,0:0,0:126,129:25,22:14,12:-,NM_001166292.1(PTCH2) c.814-210_814-209insTA:-,NOT_FOUND:-,NOT_FOUND 1 45296716 . C . . NT END=45297377;NT GT ./. 1 45297470 . C . . NT END=45297646;NT GT ./. 1 45297717 . C . . NT END=45297823;NT GT ./. 1 45298014 . C . . NT END=45307518;NT GT ./. 1 45307506 rs3795720 G A 185 nt VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.628,A/0.372;PC=0.029;Gene=PTCH2/NM_001166292.1/1;CC=c.265+13C>T;VC=Intron;Gene=PTCH2/NM_003738.4/0;CC=c.265+13C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A:51:45:0:0:51:1606:184.72:132.14:52.58:1.00:1.00:1.00:60:37.0:0:0:38:107:21:NM_001166292.1(PTCH2) c.265+13C>T,NM_001166292.1(PTCH2) c.265+13C>T:0.37,0.37:0.339074,0.339074 1 45307712 . C . . NT END=45308532;NT GT ./. 1 45308409 rs6696675 G A 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5487,A/0.4513;Gene=PTCH2/NM_001166292.1/1;CC=c.72+124C>T;VC=Intron;Gene=PTCH2/NM_003738.4/0;CC=c.72+124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,C:16:16:0:0:15,1:420,25:48.65,1.78:48.65,1.78:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.6,106.0:0,0:0,0:55,116:96,35:27,0:NM_001166292.1(PTCH2) c.72+124C>T,NM_001166292.1(PTCH2) c.72+124C>T:0.43,0.43:NOT_FOUND,NOT_FOUND 1 45309215 . G . . NT END=45316622;NT GT ./. 1 45309223 rs553188087 C CT 21 idl,rn VT=INS;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.9944,T/0.005591;NP=1;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,CT,D:71:32:14:7:55,9,7:1742,414,207:0.00,20.85,14.50:0.00,6.26,4.60:0.00,14.59,9.90:0.00,0.97,0.00:0.00,0.94,0.00:0.00,1.00,0.00:60,70,60:22.7,24.8,35.0:0,5,0:0,0,0:109,86,110:32,46,41:32,19,22:-,NM_001166292.1(PTCH2) c.-12-u608_-12-u607insA:-,NOT_FOUND:-,NOT_FOUND 1 45309449 rs12118515 C T 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.628,T/0.372;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:6:0:0:13:401:46.30:19.52:26.77:1.00:1.00:1.00:60:53.4:0:0:72:79:37:NM_001166292.1(PTCH2) c.-12-u833G>A,NM_001166292.1(PTCH2) c.-12-u833G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 1 45316676 . C . . NT END=45323375;NT GT ./. 1 45316741 . CT C 7 idl,rn VT=INS;SST=Single;DP=45;NP=16;PC=0.001;Gene=EIF2B3/NM_001261418.1/0;CC=c.1203-67delA;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.1307-67delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:2:CT,G,I,C:43:16:3:5:36,1,3,3:1173,9,100,167:0.00,-0.19,6.83,6.83:0.00,-0.07,2.48,3.78:0.00,-0.12,4.35,3.05:0.00,0.00,0.35,0.00:0.00,0.00,0.56,0.00:0.00,0.00,0.84,0.00:60,60,60,70:11.8,56.0,4.0,0.0:0,0,0,2:0,0,0,0:106,57,124,108:43,94,27,43:25,0,8,21:-,NM_020365.4(EIF2B3) c.1307-67delA:-,NOT_FOUND:-,NOT_FOUND 1 45316904 rs263985 C T 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2065,T/0.7935;PC=0.001;Gene=EIF2B3/NM_001261418.1/0;CC=c.1203-229G>A;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.1307-229G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:0:0:0:8:240:27.77:0.00:27.77:1.00:0.00:1.00:60:50.8:0:0:106:44:27:NM_020365.4(EIF2B3) c.1307-229G>A,NM_020365.4(EIF2B3) c.1307-229G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 45323199 rs200709551 G GA 10 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;PC=0.004;Gene=EIF2B3/NM_001261418.1/0;CC=c.1203-6525_1203-6524insT;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.1306+176_1306+177insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,GA:12:12:4:0:8,4:243,115:0.00,10.09:0.00,10.09:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:21.9,48.2:0,0:0,0:27,53:123,93:9,5:-,NM_020365.4(EIF2B3) c.1306+176_1306+177insT:-,NOT_FOUND:-,NOT_FOUND 1 45323480 . C . . NT END=45340309;NT GT ./. 1 45340282 rs9988451 C T 98 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5483,T/0.4517;PC=0.015;Gene=EIF2B3/NM_001261418.1/0;CC=c.1202+68G>A;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.1202+68G>A;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.*31G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:26:0:0:26:853:97.67:89.77:7.90:1.00:1.00:1.00:60:49.5:0:0:28:117:19:NM_020365.4(EIF2B3) c.1202+68G>A,NM_020365.4(EIF2B3) c.1202+68G>A:0.43,0.43:0.419842,0.419842 1 45340499 . C . . NT END=45341289;NT GT ./. 1 45340703 rs263955 T C 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.2083,C/0.7917;PC=0.124;Gene=EIF2B3/NM_001261418.1/0;CC=c.1054-205A>G;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.1054-205A>G;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.1054-205A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:0:0:0:16:489:56.52:0.00:56.52:1.00:0.00:1.00:60:55.6:0:0:98:53:32:NM_020365.4(EIF2B3) c.1054-205A>G,NM_020365.4(EIF2B3) c.1054-205A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 45341368 . C . . NT END=45345489;NT GT ./. 1 45345446 rs3738248 T A 193 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.8552,A/0.1448;Gene=EIF2B3/NM_001261418.1/0;CC=c.975+44A>T;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.975+44A>T;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.975+44A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:A:54:50:0:0:54:1673:192.85:162.67:30.18:1.00:1.00:1.00:60:37.7:0:0:43:107:27:NM_020365.4(EIF2B3) c.975+44A>T,NM_020365.4(EIF2B3) c.975+44A>T:0.15,0.15:0.155467,0.155467 1 45345681 . C . . NT END=45347283;NT GT ./. 1 45347412 . C . . NT END=45363026;NT GT ./. 1 45362992 rs263978 T C 125 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2089,C/0.7911;Gene=EIF2B3/NM_001261418.1/0;CC=c.656+35A>G;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.656+35A>G;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.656+35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:33:0:0:33:1093:124.96:108.70:16.26:1.00:1.00:1.00:60:42.8:0:0:53:95:20:NM_020365.4(EIF2B3) c.656+35A>G,NM_020365.4(EIF2B3) c.656+35A>G:0.77,0.77:0.66108,0.66108 1 45363117 . C . . NT END=45392299;NT GT ./. 1 45363300 rs263979 G C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7556,C/0.2444;Gene=EIF2B3/NM_001261418.1/0;CC=c.567-184C>G;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.567-184C>G;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.567-184C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:208:23.66:0.00:23.66:1.00:0.00:1.00:60:36.5:0:0:120:30:14:NM_020365.4(EIF2B3) c.567-184C>G,NM_020365.4(EIF2B3) c.567-184C>G:0.23,0.23:NOT_FOUND,NOT_FOUND 1 45392412 . C . . NT END=45407177;NT GT ./. 1 45407338 . C . . NT END=45443986;NT GT ./. 1 45424381 rs471564 A G 201 nt VT=SNV;PN=G;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.8189,G/0.1811;PC=1.000;Gene=EIF2B3/NM_001261418.1/0;CC=c.295-17044T>C;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.295-17044T>C;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.295-17044T>C;VC=Intron;DM=EIF2B3/NTP_transferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:C,G:55:33:0:0:1,54:10,1754:0.17,200.60:0.00,80.80:0.17,119.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,39.9:0,0:0,0:40,69:111,70:0,25:NM_020365.4(EIF2B3) c.295-17044T>C,NM_020365.4(EIF2B3) c.295-17044T>C:0.18,0.18:NOT_FOUND,NOT_FOUND 1 45424509 rs637224 G C 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7504,C/0.2496;PC=1.000;Gene=EIF2B3/NM_001261418.1/0;CC=c.295-17172C>G;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.295-17172C>G;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.295-17172C>G;VC=Intron;DM=EIF2B3/NTP_transferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:4:0:0:16:503:57.88:13.97:43.91:1.00:1.00:1.00:60:40.1:0:0:111:39:24:NM_020365.4(EIF2B3) c.295-17172C>G,NM_020365.4(EIF2B3) c.295-17172C>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 45438297 rs76050139 C T 10 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=23;PC=0.004;Gene=EIF2B3/NM_001261418.1/0;CC=c.294+5690G>A;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.294+5690G>A;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.294+5690G>A;VC=Intron;DM=EIF2B3/NTP_transferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:5:3:0:0:2,3:65,96:0.00,9.57:0.00,8.54:0.00,1.03:0.00,0.78:0.00,0.94:0.00,0.94:60,60:13.0,32.0:2,0:0,0:64,139:75,11:2,9:-,NM_020365.4(EIF2B3) c.294+5690G>A:-,NOT_FOUND:-,NOT_FOUND 1 45444133 . C . . NT END=45446692;NT GT ./. 1 45444293 rs570473136 CTTTTTTTTTTTTTTTT C 20 idl,nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=2;PC=0.509;Gene=EIF2B3/NM_001261418.1/0;CC=c.149-177_149-162delAAAAAAAAAAAAAAAA;VC=Intron;Gene=EIF2B3/NM_020365.4/1;CC=c.149-177_149-162delAAAAAAAAAAAAAAAA;VC=Intron;Gene=EIF2B3/NM_001166588.2/0;CC=c.149-177_149-162delAAAAAAAAAAAAAAAA;VC=Intron;DM=EIF2B3/NTP_transferase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:CTTTTTTTTTTTTTTTT,C:11:0:0:10:4,7:126,287:0.00,19.59:0.00,0.00:0.00,19.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:60.2,6.4:0,3:0,0:133,70:15,79:8,22:-,NM_020365.4(EIF2B3) c.149-177_149-162delAAAAAAAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 45446841 . T . . NT END=45469163;NT GT ./. 1 45453797 rs71040532 C CA 9 idl,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;PC=0.013;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,CA:8:10:5:0:5,3:132,148:0.00,8.80:0.00,8.80:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:29.8,96.7:0,2:0,0:90,79:57,72:9,38:-,NM_020365.4(EIF2B3) c.-239-u1404_-239-u1403insT:-,NOT_FOUND:-,NOT_FOUND 1 45457386 rs12403201 A G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8516,G/0.1484;PC=0.073 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:275:31.76:31.76:0.00:1.00:1.00:0.00:60:47.8:0:0:38:113:31:NM_020365.4(EIF2B3) c.-239-u4992T>C,NM_020365.4(EIF2B3) c.-239-u4992T>C:0.15,0.15:NOT_FOUND,NOT_FOUND 1 45457873 rs401665 G A 72 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.5206,A/0.4794;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:8:0:0:20:629:72.43:18.58:53.85:1.00:1.00:1.00:60:40.2:0:0:98:52:32:NM_020365.4(EIF2B3) c.-239-u5479C>T,NM_020365.4(EIF2B3) c.-239-u5479C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 45469249 . C . . NT END=45469340;NT GT ./. 1 45469413 . C . . NT END=45469526;NT GT ./. 1 45469609 . C . . NT END=45469731;NT GT ./. 1 45469807 . C . . NT END=45469919;NT GT ./. 1 45470050 . C . . NT END=45470271;NT GT ./. 1 45470130 rs7528534 T C 389 nt VT=SNV;PN=T;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.1036,C/0.8964;Gene=HECTD3/NM_024602.5/1;CC=c.2143-81A>G;VC=Intron;DM=HECTD3/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:105:60:0:0:103,1,1:3426,9,11:389.47,0.07,0.00:167.80,0.07,0.00:221.67,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.2,9.0,106.0:0,0,0:0,0,0:93,91,147:57,60,4:25,0,0:NM_024602.5(HECTD3) c.2143-81A>G,NM_024602.5(HECTD3) c.2143-81A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 45470479 . C . . NT END=45471465;NT GT ./. 1 45471556 . C . . NT END=45471668;NT GT ./. 1 45471789 . C . . NT END=45472363;NT GT ./. 1 45471980 rs144329171 A CT 16 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.5545,AT/0.4455,ATT/.;NP=16;PC=0.003;Gene=HECTD3/NM_024602.5/1;CC=c.1726-193_1726-192insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,C,T,CT:20:0:6:0:11,2,1,6:347,31,11,182:0.00,1.64,0.18,16.22:0.00,0.00,0.00,0.00:0.00,1.64,0.18,16.22:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.94:60,60,60,70:12.5,111.5,105.0,4.3:0,1,0,0:0,0,0,0:142,70,138,58:8,61,11,92:3,34,0,15:-,NM_024602.5(HECTD3) c.1726-192delTinsAG:-,NOT_FOUND:-,NOT_FOUND 1 45472169 rs7521006 C T 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.355,T/0.645;PC=0.010;Gene=HECTD3/NM_024602.5/1;CC=c.1725+195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:301:35.30:35.30:0.00:1.00:1.00:0.00:60:35.2:0:0:31:120:19:NM_024602.5(HECTD3) c.1725+195G>A,NM_024602.5(HECTD3) c.1725+195G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 45472468 . C . . NT END=45472622;NT GT ./. 1 45472688 . C . . NT END=45472890;NT GT ./. 1 45472798 rs147908761 TTGTGTGTG T 47 idl,nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=TTGTGTGTG/0.009385,T/0.9906;NP=386;Gene=HECTD3/NM_024602.5/1;CC=c.1556+85_1556+92delCACACACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTGTGTGTG,T:26:16:0:21:9,17:271,596:0.00,46.69:0.00,29.13:0.00,17.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.4,20.4:0,4:0,0:127,64:23,87:6,23:-,NM_024602.5(HECTD3) c.1556+85_1556+92delCACACACA:-,NOT_FOUND:-,NOT_FOUND 1 45472944 . C . . NT END=45473084;NT GT ./. 1 45473268 . C . . NT END=45473911;NT GT ./. 1 45473316 rs4660830 C T 185 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.355,G/.,T/0.645;Gene=HECTD3/NM_024602.5/1;CC=c.1321-49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:T:49:15:0:0:49:1618:185.11:39.67:145.44:1.00:1.00:1.00:60:38.8:0:0:103:46:24:NM_024602.5(HECTD3) c.1321-49G>A,NM_024602.5(HECTD3) c.1321-49G>A:0.65,0.65:0.688859,0.688859 1 45473994 . C . . NT END=45474207;NT GT ./. 1 45474157 rs2298006 G A 144 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.4299,A/0.5701;Gene=HECTD3/NM_024602.5/1;CC=c.1238+51C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:29:0:0:39:1259:144.44:95.90:48.54:1.00:1.00:1.00:60:41.2:0:0:46:100:30:NM_024602.5(HECTD3) c.1238+51C>T,NM_024602.5(HECTD3) c.1238+51C>T:0.59,0.59:0.608935,0.608935 1 45474374 . C . . NT END=45474815;NT GT ./. 1 45474899 . C . . NT END=45475040;NT GT ./. 1 45475155 . C . . NT END=45475239;NT GT ./. 1 45475356 . C . . NT END=45475657;NT GT ./. 1 45475566 rs6429552 A G 181 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=3455;Gene=HECTD3/NM_024602.5/1;CC=c.759+92T>C;VC=Intron;DM=HECTD3/ANAPC10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:C,G:50:38:0:0:1,49:13,1578:0.33,180.61:0.33,126.58:0.00,54.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:79.0,42.4:0,0:0,0:14,49:136,100:0,27:NM_024602.5(HECTD3) c.759+92T>C,NM_024602.5(HECTD3) c.759+92T>C:1,1:NOT_FOUND,NOT_FOUND 1 45475794 . C . . NT END=45475872;NT GT ./. 1 45475966 . C . . NT END=45476217;NT GT ./. 1 45476069 rs7533668 C A 116 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.009984,A/0.99;Gene=HECTD3/NM_024602.5/1;CC=c.531-104G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:A,G:35:21:0:0:34,1:1002,5:115.80,0.06:64.76,0.06:51.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.7,95.0:0,0:0,0:91,47:59,104:38,0:NM_024602.5(HECTD3) c.531-104G>T,NM_024602.5(HECTD3) c.531-104G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 45476379 . C . . NT END=45476560;NT GT ./. 1 45476930 . G . . NT END=45477937;NT GT ./. 1 45477958 . G . . NT END=45478528;NT GT ./. 1 45478692 . G . . NT END=45478807;NT GT ./. 1 45478888 . G . . NT END=45478963;NT GT ./. 1 45479027 . G . . NT END=45479246;NT GT ./. 1 45479464 . G . . NT END=45479580;NT GT ./. 1 45479743 . G . . NT END=45480110;NT GT ./. 1 45479874 rs6698485 G T 137 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.007388,T/0.9926;NP=2957;PC=0.019;Gene=UROD/NM_000374.4/1;CC=c.636+132G>T;VC=Intron;Gene=UROD/NR_036510.1/0;VC=NonCoding;DM=UROD/URO-D;DM=UROD/URO-D GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T:38:10:0:0:38:1188:136.83:35.33:101.50:1.00:1.00:1.00:60:48.1:0:0:73:78:30:NM_000374.4(UROD) c.636+132G>T,NM_000374.4(UROD) c.636+132G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 45479966 . A AT 7 idl,rn VT=INS;SST=Single;DP=31;NP=2;Gene=UROD/NM_000374.4/1;CC=c.637-132_637-131insT;VC=Intron;Gene=UROD/NR_036510.1/0;VC=NonCoding;DM=UROD/URO-D;DM=UROD/URO-D;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,AT,D:30:22:4:3:24,3,3:721,131,88:0.00,7.13,6.14:0.00,4.70,3.70:0.00,2.43,2.43:0.00,0.42,0.00:0.00,0.80,0.00:0.00,0.57,0.00:60,60,60:26.9,0.0,51.7:0,1,0:0,0,0:42,40,49:106,110,102:27,7,32:-,NM_000374.4(UROD) c.637-145_637-144insT:-,NOT_FOUND:-,NOT_FOUND 1 45480249 . G . . NT END=45480407;NT GT ./. 1 45480509 . G . . NT END=45480611;NT GT ./. 1 45480679 . G . . NT END=45481008;NT GT ./. 1 45480733 rs6429553 C T 391 nt VT=SNV;PN=G;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.007388,T/0.9926;NP=3468;PC=0.003;Gene=UROD/NM_000374.4/1;CC=c.942+55C>T;VC=Intron;Gene=UROD/NR_036510.1/0;VC=NonCoding;DM=UROD/URO-D GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:110:36:0:0:1,109:14,3414:0.00,391.10:0.00,82.63:0.00,308.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,36.7:0,0:0,0:29,102:121,49:0,36:NM_000374.4(UROD) c.942+55C>T,NM_000374.4(UROD) c.942+55C>T:0.99,0.99:0.988392,0.988392 1 45481171 . G . . NT END=45484125;NT GT ./. 1 45484989 . C . . NT END=45485737;NT GT ./. 1 45485820 . C . . NT END=45486296;NT GT ./. 1 45486272 rs998418 T C 376 nt VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.3516,A/.,C/0.6484;Gene=ZSWIM5/NM_020883.1/1;CC=c.2613+25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:100:83:0:0:100:3289:376.26:265.60:110.66:1.00:1.00:1.00:60:38.3:0:0:44:104:26:NM_020883.1(ZSWIM5) c.2613+25A>G,NM_020883.1(ZSWIM5) c.2613+25A>G:0.67,0.67:0.679588,0.679588 1 45486461 . C . . NT END=45499983;NT GT ./. 1 45499806 rs10749855 A G 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.007388,G/0.9926;NP=2792;PC=0.001;Gene=ZSWIM5/NM_020883.1/1;CC=c.2449+178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:614:70.43:68.39:2.04:1.00:1.00:1.00:60:36.5:0:0:43:108:38:NM_020883.1(ZSWIM5) c.2449+178T>C,NM_020883.1(ZSWIM5) c.2449+178T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 45500142 . C . . NT END=45501359;NT GT ./. 1 45500294 rs6671633 A G 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.4313,G/0.5687;Gene=ZSWIM5/NM_020883.1/1;CC=c.2292-153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G,T:31:0:0:0:30,1:941,12:107.93,0.38:0.00,0.00:107.93,0.38:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.8,46.0:0,0:0,0:98,15:53,134:27,0:NM_020883.1(ZSWIM5) c.2292-153T>C,NM_020883.1(ZSWIM5) c.2292-153T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 45501496 . C . . NT END=45501710;NT GT ./. 1 45502002 . G . . NT END=45504607;NT GT ./. 1 45502026 rs397719398 CT C 108 idl,rn VT=DEL;SST=Single;DP=88;DB;DBA=NA;PAF=CT/0.2626,C/0.7374;DB;DBA=NA;PAF=CT/0.2626,C/0.7374;NP=17;PC=0.002;Gene=ZSWIM5/NM_020883.1/1;CC=c.1895-56delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,C:75:43:0:51:37,1,37:1224,10,1542:0.00,-0.07,108.46:0.00,-0.09,24.35:0.00,0.02,84.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.4,66.0,27.0:0,0,13:0,0,0:124,49,73:19,102,71:20,0,17:-,NM_020883.1(ZSWIM5) c.1895-56delA:-,NOT_FOUND:-,NOT_FOUND 1 45504524 rs7543818 T A 214 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.4896,A/0.5104;PC=0.142;Gene=ZSWIM5/NM_020883.1/1;CC=c.1894+84A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A:57:56:0:0:57:1873:214.45:189.20:25.25:1.00:1.00:1.00:60:37.6:0:0:37:112:22:NM_020883.1(ZSWIM5) c.1894+84A>T,NM_020883.1(ZSWIM5) c.1894+84A>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 45504720 rs7551698 G C 485 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.4896,C/0.5104;PC=1.000;Gene=ZSWIM5/NM_020883.1/1;CC=c.1782C>G;ProtCh=p.T594=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:134:65:0:0:134:4213:484.66:178.89:305.77:1.00:1.00:1.00:60:36.5:0:0:95:52:35:NM_020883.1(ZSWIM5) c.1782C>G (p.(=)),NM_020883.1(ZSWIM5) c.1782C>G (p.(=)):0.52,0.52:0.53463,0.53463 1 45504746 . C . . NT END=45506063;NT GT ./. 1 45506211 . C . . NT END=45508890;NT GT ./. 1 45509068 . C . . NT END=45516745;NT GT ./. 1 45516926 . C . . NT END=45524280;NT GT ./. 1 45523893 rs3850855 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2897,C/0.7103;PC=0.001;Gene=ZSWIM5/NM_020883.1/1;CC=c.1252+388A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:120:13.91:13.91:0.00:1.00:1.00:0.00:60:56.8:0:0:30:120:20:NM_020883.1(ZSWIM5) c.1252+388A>G,NM_020883.1(ZSWIM5) c.1252+388A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 45524213 rs3738246 C T 209 nt VT=SNV;PN=G;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.1192,T/0.8808;Gene=ZSWIM5/NM_020883.1/1;CC=c.1252+68G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:T:61:52:0:0:61:1803:209.20:160.05:49.15:1.00:1.00:1.00:60:35.1:0:0:34:116:20:NM_020883.1(ZSWIM5) c.1252+68G>A,NM_020883.1(ZSWIM5) c.1252+68G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 45524432 . C . . NT END=45525770;NT GT ./. 1 45525920 . C . . NT END=45553552;NT GT ./. 1 45536004 rs346702 A G 81 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.1683,G/0.8317;PC=1.000;Gene=ZSWIM5/NM_020883.1/1;CC=c.953-10085T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:14:0:0:22:707:81.17:38.81:42.36:1.00:1.00:1.00:60:39.0:0:0:54:92:31:NM_020883.1(ZSWIM5) c.953-10085T>C,NM_020883.1(ZSWIM5) c.953-10085T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 45553910 . C . . NT END=45671427;NT GT ./. 1 45672196 . c . . NT END=45792820;NT GT ./. 1 45792145 rs66570743 C CGTGTGTGT 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=123;NP=2;PC=0.002;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,CGTGTGTGT:3:2:4:0:1,2:5,133:0.00,6.68:0.00,3.38:0.00,3.30:0.00,0.46:0.00,0.70:0.00,0.46:60,60:11.0,0.0:0,2:0,0:110,73:33,77:0,16:-,NM_032756.2(HPDL) c.-276-u400_-276-u399insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 45793937 . G . . NT END=45794977;NT GT ./. 1 45795110 . C . . NT END=45796187;NT GT ./. 1 45796230 . C . . NT END=45796853;NT GT ./. 1 45796269 rs3219493 G C 146 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.0647,C/0.9353;Gene=MUTYH/NM_001048174.1/0;CC=c.1393-40C>G;VC=Intron;Gene=MUTYH/NM_001293191.1/0;CC=c.1426-40C>G;VC=Intron;Gene=MUTYH/NM_001293195.1/0;CC=c.1393-40C>G;VC=Intron;Gene=MUTYH/NM_001048172.1/0;CC=c.1396-40C>G;VC=Intron;Gene=MUTYH/NM_001048173.1/0;CC=c.1393-40C>G;VC=Intron;Gene=MUTYH/NM_001293196.1/0;CC=c.1117-40C>G;VC=Intron;Gene=MUTYH/NM_001048171.1/0;CC=c.1435-40C>G;VC=Intron;Gene=MUTYH/NM_001128425.1/1;CC=c.1477-40C>G;VC=Intron;Gene=MUTYH/NM_001293190.1/0;CC=c.1438-40C>G;VC=Intron;Gene=MUTYH/NM_001293192.1/0;CC=c.1117-40C>G;VC=Intron;Gene=MUTYH/NM_012222.2/0;CC=c.1468-40C>G;VC=Intron;DM=MUTYH/NUDIX_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:C:39:28:0:0:39:1276:146.12:70.66:75.47:1.00:1.00:1.00:60:43.1:0:0:110:37:21:NM_001128425.1(MUTYH) c.1477-40C>G,NM_001128425.1(MUTYH) c.1477-40C>G:0.93,0.93:0.926253,0.926253 1 45797007 . C . . NT END=45797091;NT GT ./. 1 45797229 . C . . NT END=45797332;NT GT ./. 1 45797522 . C . . NT END=45797694;NT GT ./. 1 45797759 . C . . NT END=45797837;NT GT ./. 1 45797983 . C . . NT END=45798062;NT GT ./. 1 45798161 . C . . NT END=45798245;NT GT ./. 1 45798360 . C . . NT END=45798434;NT GT ./. 1 45798507 . C . . NT END=45798589;NT GT ./. 1 45798555 rs3219487 T C 354 nt VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.0629,C/0.9371;Gene=MUTYH/NM_001048174.1/0;CC=c.420+35A>G;VC=Intron;Gene=MUTYH/NM_001293191.1/0;CC=c.453+35A>G;VC=Intron;Gene=MUTYH/NM_001293195.1/0;CC=c.420+35A>G;VC=Intron;Gene=MUTYH/NM_001048172.1/0;CC=c.423+35A>G;VC=Intron;Gene=MUTYH/NM_001048173.1/0;CC=c.420+35A>G;VC=Intron;Gene=MUTYH/NM_001293196.1/0;CC=c.144+35A>G;VC=Intron;Gene=MUTYH/NM_001048171.1/0;CC=c.462+35A>G;VC=Intron;Gene=MUTYH/NM_001128425.1/1;CC=c.504+35A>G;VC=Intron;Gene=MUTYH/NM_001293190.1/0;CC=c.465+35A>G;VC=Intron;Gene=MUTYH/NM_001293192.1/0;CC=c.144+35A>G;VC=Intron;Gene=MUTYH/NM_012222.2/0;CC=c.495+35A>G;VC=Intron;DM=MUTYH/HhH-GPD;DM=MUTYH/HhH-GPD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:99:59:0:0:2,97:16,3086:0.23,353.94:0.23,151.75:0.00,202.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.5,38.5:0,0:0,0:81,96:64,54:54,32:NM_001128425.1(MUTYH) c.504+35A>G,NM_001128425.1(MUTYH) c.504+35A>G:0.93,0.93:0.930263,0.930263 1 45798632 . C . . NT END=45798768;NT GT ./. 1 45798843 . C . . NT END=45798956;NT GT ./. 1 45798997 . C . . NT END=45799084;NT GT ./. 1 45799306 . C . . NT END=45800062;NT GT ./. 1 45799912 rs3219486 C T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9746,T/0.02536;PC=0.003;Gene=MUTYH/NM_001048174.1/0;CC=c.115+151G>A;VC=Intron;Gene=MUTYH/NM_001293191.1/0;CC=c.115+151G>A;VC=Intron;Gene=MUTYH/NM_001293195.1/0;CC=c.115+151G>A;VC=Intron;Gene=MUTYH/NM_001048172.1/0;CC=c.115+151G>A;VC=Intron;Gene=MUTYH/NM_001048173.1/0;CC=c.115+151G>A;VC=Intron;Gene=MUTYH/NM_001293196.1/0;CC=c.-98+151G>A;VC=Intron;Gene=MUTYH/NM_001048171.1/0;CC=c.157+151G>A;VC=Intron;Gene=MUTYH/NM_001128425.1/1;CC=c.157+151G>A;VC=Intron;Gene=MUTYH/NM_001293190.1/0;CC=c.157+151G>A;VC=Intron;Gene=MUTYH/NM_001293192.1/0;CC=c.-98+151G>A;VC=Intron;Gene=MUTYH/NM_012222.2/0;CC=c.157+151G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:12,9:397,294:0.00,27.47:0.00,27.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.4,33.6:0,0:0,0:52,31:98,119:34,23:-,NM_001128425.1(MUTYH) c.157+151G>A:-,0.02:-,NOT_FOUND 1 45800184 . C . . NT END=45805570;NT GT ./. 1 45805566 rs3219468 G C 575 nt VT=SNV;PN=C;NN=C;SST=Single;DP=160;DB;DBA=NA;PAF=G/0.005591,A/.,C/0.9944;Gene=MUTYH/NM_001048174.1/0;CC=c.-7+5C>G;VC=Intron;Gene=MUTYH/NM_001293191.1/0;CC=c.-7+5C>G;VC=Intron;Gene=MUTYH/NM_001293195.1/0;CC=c.-157+5C>G;VC=Intron;Gene=MUTYH/NM_001048172.1/0;CC=c.-7+82C>G;VC=Intron;Gene=MUTYH/NM_001048173.1/0;CC=c.-7+82C>G;VC=Intron;Gene=MUTYH/NM_001293196.1/0;CC=c.-219+82C>G;VC=Intron;Gene=MUTYH/NM_001048171.1/0;CC=c.36+325C>G;VC=Intron;Gene=MUTYH/NM_001128425.1/1;CC=c.36+325C>G;VC=Intron;Gene=MUTYH/NM_001293190.1/0;CC=c.36+325C>G;VC=Intron;Gene=MUTYH/NM_001293192.1/0;CC=c.-219+325C>G;VC=Intron;Gene=MUTYH/NM_012222.2/0;CC=c.36+325C>G;VC=Intron;Gene=TOE1/NM_025077.3/1;CC=c.-359G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:160:140:0:0:1,158,1:12,5013,5:0.10,574.84,0.00:0.10,412.27,0.00:0.00,162.57,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.0,39.6,19.0:0,0,0:0,0,0:7,47,27:143,95,123:0,30,0:NM_025077.3(TOE1) c.-359G>C,NM_025077.3(TOE1) c.-359G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 45805630 . G . . NT END=45805647;NT GT ./. 1 45805788 . C . . NT END=45805890;NT GT ./. 1 45806215 . G . . NT END=45806744;NT GT ./. 1 45806888 . G . . NT END=45806974;NT GT ./. 1 45807016 . G . . NT END=45807144;NT GT ./. 1 45807242 . G . . NT END=45807620;NT GT ./. 1 45807358 rs397862962 GT G 8 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=GT/0.5605,G/0.4395;DB;DBA=NA;PAF=GT/0.5605,G/0.4395;NP=130;Gene=TOE1/NM_025077.3/1;CC=c.333+130delT;VC=Intron;DM=TOE1/CAF1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:GT,I,G:25:4:1:3:21,1,3:616,29,100:0.00,1.61,7.51:0.00,-0.05,2.69:0.00,1.67,4.82:0.00,0.00,0.46:0.00,0.00,0.41:0.00,0.00,0.86:60,60,60:35.2,30.0,0.0:0,0,0:0,0,0:86,121,100:64,30,51:31,0,27:-,NM_025077.3(TOE1) c.333+118delT:-,NOT_FOUND:-,NOT_FOUND 1 45807780 . G . . NT END=45808055;NT GT ./. 1 45808316 . G . . NT END=45808406;NT GT ./. 1 45808675 . G . . NT END=45808753;NT GT ./. 1 45809375 . T . . NT END=45810511;NT GT ./. 1 45811231 . C . . NT END=45811548;NT GT ./. 1 45811667 . C . . NT END=45812364;NT GT ./. 1 45812452 . C . . NT END=45812650;NT GT ./. 1 45812735 . C . . NT END=45813280;NT GT ./. 1 45813366 . C . . NT END=45813589;NT GT ./. 1 45813673 . C . . NT END=45820974;NT GT ./. 1 45821122 . C . . NT END=45850965;NT GT ./. 1 45851042 . C . . NT END=45851583;NT GT ./. 1 45851633 . C . . NT END=45887396;NT GT ./. 1 45880751 rs781230 C T 248 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.384,T/0.616;Gene=TESK2/NM_007170.2/1;CC=c.344+6646G>A;VC=Intron;DM=TESK2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:63:0:0:67:2157:247.56:199.45:48.11:1.00:1.00:1.00:60:40.5:0:0:44:106:33:NM_007170.2(TESK2) c.344+6646G>A,NM_007170.2(TESK2) c.344+6646G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 45887519 . C . . NT END=45923235;NT GT ./. 1 45923458 . A . . NT END=45966004;NT GT ./. 1 45923668 rs11211113 T C 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8534,C/0.1466;Gene=TESK2/NM_007170.2/1;CC=c.-86-125A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,T:8:0:0:0:4,4:89,123:8.34,0.00:0.00,0.00:8.34,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:51.5,95.0:0,0:0,0:105,88:45,62:18,25:NM_007170.2(TESK2) c.-86-125A>G,-:0.15,-:NOT_FOUND,- 1 45966086 . G . . NT END=45973027;NT GT ./. 1 45973223 . G . . NT END=45973883;NT GT ./. 1 45973928 rs2275276 G A 125 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=80;DB;DBA=in-clinvar;PAF=G/0.5248,A/0.4752;PC=0.027;Gene=MMACHC/NM_015506.2/1;CC=c.321G>A;ProtCh=p.V107=;VC=Silent;DM=MMACHC/MMACHC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:59:0:0:43,37:1291,1189:125.45,0.00:66.14,0.00:59.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.8,5.1:0,0:0,0:71,77:79,72:30,35:NM_015506.2(MMACHC) c.321G>A (p.(=)),-:0.49,-:0.416191,- 1 45974037 . G . . NT END=45974467;NT GT ./. 1 45974888 . T . . NT END=45977000;NT GT ./. 1 45976972 rs34284105 C T 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9948,T/0.005192;NP=68;PC=0.012;Gene=PRDX1/NM_002574.3/0;CC=c.*29G>A;VC=3UTR;Gene=PRDX1/NM_181696.2/0;CC=c.*29G>A;VC=3UTR;Gene=PRDX1/NM_181697.2/1;CC=c.*29G>A;VC=3UTR;Gene=PRDX1/NM_001202431.1/0;CC=c.*29G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:29:0:0:18,13:567,433:0.00,40.34:0.00,36.07:0.00,4.27:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.9,34.2:0,0:0,0:42,35:106,116:24,30:-,NM_002574.3(PRDX1) c.*29G>A:-,0.0027:-,0.010072 1 45977087 . C . . NT END=45980178;NT GT ./. 1 45980310 . C . . NT END=45980544;NT GT ./. 1 45980668 . C . . NT END=45981325;NT GT ./. 1 45980862 rs2356561 T G 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2558,G/0.7442;Gene=PRDX1/NM_002574.3/0;CC=c.261-195A>C;VC=Intron;Gene=PRDX1/NM_181696.2/0;CC=c.261-195A>C;VC=Intron;Gene=PRDX1/NM_181697.2/1;CC=c.261-195A>C;VC=Intron;Gene=PRDX1/NM_001202431.1/0;CC=c.261-195A>C;VC=Intron;DM=PRDX1/AhpC-TSA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:23:1:0:0:1,11,11:17,389,324:0.65,37.52,0.00:-0.02,-0.28,0.00:0.67,37.81,0.00:0.00,1.00,0.00:0.00,0.65,0.00:0.00,1.00,0.00:60,60,60:74.0,42.3,17.0:0,0,0:0,0,0:87,63,114:63,88,36:0,35,26:NM_002574.3(PRDX1) c.261-195A>C,-:0.74,-:NOT_FOUND,- 1 45981080 rs4233498 A G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1815,G/0.8185;Gene=PRDX1/NM_002574.3/0;CC=c.260+246T>C;VC=Intron;Gene=PRDX1/NM_181696.2/0;CC=c.260+246T>C;VC=Intron;Gene=PRDX1/NM_181697.2/1;CC=c.260+246T>C;VC=Intron;Gene=PRDX1/NM_001202431.1/0;CC=c.260+246T>C;VC=Intron;DM=PRDX1/AhpC-TSA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:4:2:0:0:1,3:34,77:0.00,8.11:0.00,3.05:0.00,5.06:0.00,0.85:0.00,0.95:0.00,0.95:60,60:0.0,39.7:0,0:0,0:131,104:20,47:0,1:-,NM_002574.3(PRDX1) c.260+246T>C:-,0.8:-,NOT_FOUND 1 45981144 rs2356560 G A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.257,A/0.743;Gene=PRDX1/NM_002574.3/0;CC=c.260+182C>T;VC=Intron;Gene=PRDX1/NM_181696.2/0;CC=c.260+182C>T;VC=Intron;Gene=PRDX1/NM_181697.2/1;CC=c.260+182C>T;VC=Intron;Gene=PRDX1/NM_001202431.1/0;CC=c.260+182C>T;VC=Intron;DM=PRDX1/AhpC-TSA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,G:8:8:0:0:4,4:136,119:13.10,0.00:13.10,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:77.8,3.2:0,0:0,0:27,44:119,106:13,9:NM_002574.3(PRDX1) c.260+182C>T,-:0.74,-:NOT_FOUND,- 1 45981258 rs7516006 A G 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.1747,G/0.8253;Gene=PRDX1/NM_002574.3/0;CC=c.260+68T>C;VC=Intron;Gene=PRDX1/NM_181696.2/0;CC=c.260+68T>C;VC=Intron;Gene=PRDX1/NM_181697.2/1;CC=c.260+68T>C;VC=Intron;Gene=PRDX1/NM_001202431.1/0;CC=c.260+68T>C;VC=Intron;DM=PRDX1/AhpC-TSA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:25:0:0:10,15:342,476:0.00,47.45:0.00,45.77:0.00,1.68:0.00,1.00:0.00,1.00:0.00,0.87:60,60:18.9,46.7:0,0:0,0:36,72:112,69:15,14:-,NM_002574.3(PRDX1) c.260+68T>C:-,0.81:-,NOT_FOUND 1 45981270 rs67528538 CAA C 45 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=CAA/0.2784,C/0.7216;DB;DBA=NA;PAF=CAA/0.2784,C/0.7216;NP=4;PC=0.027;Gene=PRDX1/NM_002574.3/0;CC=c.260+54_260+55delTT;VC=Intron;Gene=PRDX1/NM_181696.2/0;CC=c.260+54_260+55delTT;VC=Intron;Gene=PRDX1/NM_181697.2/1;CC=c.260+54_260+55delTT;VC=Intron;Gene=PRDX1/NM_001202431.1/0;CC=c.260+54_260+55delTT;VC=Intron;DM=PRDX1/AhpC-TSA;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,C:23:30:0:21:9,14:304,674:0.00,45.39:0.00,42.21:0.00,3.17:0.00,1.00:0.00,1.00:0.00,0.92:60,60:32.4,64.0:0,7:0,0:92,49:24,101:34,33:-,NM_002574.3(PRDX1) c.260+54_260+55delTT:-,NOT_FOUND:-,NOT_FOUND 1 45981480 . C . . NT END=45984609;NT GT ./. 1 45981494 rs139756090 G A 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.9964,A/0.003594;NP=71;Gene=PRDX1/NM_002574.3/0;CC=c.107-15C>T;VC=Intron;Gene=PRDX1/NM_181696.2/0;CC=c.107-15C>T;VC=Intron;Gene=PRDX1/NM_181697.2/1;CC=c.107-15C>T;VC=Intron;Gene=PRDX1/NM_001202431.1/0;CC=c.107-15C>T;VC=Intron;DM=PRDX1/AhpC-TSA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:14:0:0:23,25:787,773:75.25,0.00:5.00,0.00:70.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.9,4.8:0,0:0,0:114,79:37,64:23,40:NM_002574.3(PRDX1) c.107-15C>T,-:0.0041,-:0.007843,- 1 45981512 rs2356559 T C 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1815,C/0.8185;PC=0.100;Gene=PRDX1/NM_002574.3/0;CC=c.107-33A>G;VC=Intron;Gene=PRDX1/NM_181696.2/0;CC=c.107-33A>G;VC=Intron;Gene=PRDX1/NM_181697.2/1;CC=c.107-33A>G;VC=Intron;Gene=PRDX1/NM_001202431.1/0;CC=c.107-33A>G;VC=Intron;DM=PRDX1/AhpC-TSA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:9:0:0:21,19:631,578:61.13,0.00:4.01,0.00:57.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.7,5.1:0,0:0,0:125,75:24,74:25,23:NM_002574.3(PRDX1) c.107-33A>G,-:0.8,-:NOT_FOUND,- 1 45984716 . C . . NT END=46027466;NT GT ./. 1 46027355 rs512083 T C 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.4239,C/0.5761;PC=0.001;Gene=AKR1A1/NM_001202413.1/0;CC=c.-6-106T>C;VC=Intron;Gene=AKR1A1/NM_001202414.1/1;CC=c.-6-106T>C;VC=Intron;Gene=AKR1A1/NM_006066.3/0;CC=c.-6-106T>C;VC=Intron;Gene=AKR1A1/NM_153326.2/0;CC=c.-6-106T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:33:0:0:17,18:539,549:51.45,0.00:48.71,0.00:2.74,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:45.4,2.6:0,0:0,0:41,40:110,109:34,25:NM_006066.3(AKR1A1) c.-6-106T>C,-:0.59,-:NOT_FOUND,- 1 46027551 . G . . NT END=46032240;NT GT ./. 1 46032361 . G . . NT END=46032540;NT GT ./. 1 46032693 . G . . NT END=46033653;NT GT ./. 1 46033711 rs61758860 C T 134 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=22;PC=0.088;Gene=AKR1A1/NM_001202413.1/0;CC=c.414C>T;ProtCh=p.T138=;VC=Silent;Gene=AKR1A1/NM_001202414.1/1;CC=c.414C>T;ProtCh=p.T138=;VC=Silent;Gene=AKR1A1/NM_006066.3/0;CC=c.414C>T;ProtCh=p.T138=;VC=Silent;Gene=AKR1A1/NM_153326.2/0;CC=c.414C>T;ProtCh=p.T138=;VC=Silent;DM=AKR1A1/Aldo_ket_red;DM=AKR1A1/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:76:0:0:59,43:1868,1437:0.00,134.06:0.00,67.74:0.00,66.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,37.3:0,0:0,0:63,64:79,83:41,35:-,NM_006066.3(AKR1A1) c.414C>T (p.(=)):-,NOT_FOUND:-,0.001999 1 46033850 . G . . NT END=46034156;NT GT ./. 1 46034357 . G . . NT END=46034598;NT GT ./. 1 46034672 . G . . NT END=46034814;NT GT ./. 1 46034902 . G . . NT END=46035562;NT GT ./. 1 46035629 . G . . NT END=46049818;NT GT ./. 1 46035760 rs3014216 A T 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4996,T/0.5004;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,T:16:0:0:0:3,13:94,402:0.00,43.03:0.00,0.00:0.00,43.03:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.7,32.8:0,0:0,0:129,99:22,51:3,32:-,chr1 g.46035759A>T (intergenic):-,0.52:-,NOT_FOUND 1 46049878 . G . . NT END=46056894;NT GT ./. 1 46050004 rs57257530 TTCGG T 20 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TTCGG/0.3363,T/0.6637;NP=414;PC=0.004;Gene=NASP/NM_001195193.1/0;CC=c.59+128_59+131delTCGG;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.59+128_59+131delTCGG;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.59+128_59+131delTCGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTCGG,T:18:1:0:7:11,7:303,218:0.00,19.94:0.00,-0.21:0.00,20.15:0.00,0.98:0.00,0.59:0.00,1.00:60,60:21.7,22.3:0,0:0,0:134,111:14,40:11,22:-,NM_002482.3(NASP) c.59+128_59+131delTCGG:-,NOT_FOUND:-,NOT_FOUND 1 46056943 . G . . NT END=46067926;NT GT ./. 1 46068038 . G . . NT END=46070607;NT GT ./. 1 46070689 . G . . NT END=46072153;NT GT ./. 1 46072264 . G . . NT END=46072992;NT GT ./. 1 46073489 rs2230657 G A 203 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=G/0.4265,A/0.5735;Gene=NASP/NM_001195193.1/0;CC=c.714G>A;ProtCh=p.P238=;VC=Silent;Gene=NASP/NM_002482.3/1;CC=c.906G>A;ProtCh=p.P302=;VC=Silent;Gene=NASP/NM_152298.3/0;CC=c.409+1226G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:135:85:0:0:66,69:2119,2131:202.78,0.00:89.33,0.00:113.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,7.4:0,0:0,0:80,68:68,82:37,38:NM_002482.3(NASP) c.906G>A (p.(=)),-:0.57,-:0.540597,- 1 46074010 . G . . NT END=46078840;NT GT ./. 1 46078630 rs2050376 A G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3209,G/0.6791;PC=0.010;Gene=NASP/NM_001195193.1/0;CC=c.1235-211A>G;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.1427-211A>G;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.410-211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:5:5:0:0:2,3:67,77:0.00,7.63:0.00,7.63:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:5.0,28.7:0,0:0,0:85,96:66,55:4,6:-,NM_002482.3(NASP) c.1427-211A>G:-,0.69:-,NOT_FOUND 1 46078854 rs2230658 A G 34 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.3209,G/0.6791;PC=1.000;Gene=NASP/NM_001195193.1/0;CC=c.1248A>G;ProtCh=p.S416=;VC=Silent;Gene=NASP/NM_002482.3/1;CC=c.1440A>G;ProtCh=p.S480=;VC=Silent;Gene=NASP/NM_152298.3/0;CC=c.423A>G;ProtCh=p.S141=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:22:0:0:16,13:562,366:0.00,34.11:0.00,14.76:0.00,19.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,63.2:0,0:0,0:39,42:102,108:16,29:-,NM_002482.3(NASP) c.1440A>G (p.(=)):-,0.69:-,0.720283 1 46078884 rs2230659 C T 45 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.3217,T/0.6783;PC=0.999;Gene=NASP/NM_001195193.1/0;CC=c.1278C>T;ProtCh=p.T426=;VC=Silent;Gene=NASP/NM_002482.3/1;CC=c.1470C>T;ProtCh=p.T490=;VC=Silent;Gene=NASP/NM_152298.3/0;CC=c.453C>T;ProtCh=p.T151=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:21:0:0:18,14:587,474:0.00,44.55:0.00,15.77:0.00,28.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,62.1:0,0:0,0:69,60:72,90:25,28:-,NM_002482.3(NASP) c.1470C>T (p.(=)):-,0.68:-,0.719207 1 46078921 . G . . NT END=46079767;NT GT ./. 1 46079854 . G . . NT END=46079964;NT GT ./. 1 46080039 . G . . NT END=46080684;NT GT ./. 1 46080220 rs398089257 GT G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GT/0.3145,G/0.6855;DB;DBA=NA;PAF=GT/0.3145,G/0.6855;NP=388;PC=0.454;Gene=NASP/NM_001195193.1/0;CC=c.1474+190delT;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.1666+190delT;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.649+190delT;VC=Intron;DM=NASP/SHNi-TPR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GT,G:4:1:0:3:1,3:32,96:0.00,10.05:0.00,-0.60:0.00,10.66:0.00,0.85:0.00,0.83:0.00,0.99:60,60:13.0,23.3:0,0:0,0:32,94:117,53:0,28:-,NM_002482.3(NASP) c.1666+183delT:-,NOT_FOUND:-,NOT_FOUND 1 46080530 rs2991985 T C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.4712,C/0.5288;Gene=NASP/NM_001195193.1/0;CC=c.1475-155T>C;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.1667-155T>C;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.650-155T>C;VC=Intron;DM=NASP/SHNi-TPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:C,T:14:13:0:0:6,8:183,254:16.99,0.00:17.23,0.00:-0.24,0.00:0.96,0.00:1.00,0.00:0.62,0.00:60,60:62.2,9.1:0,0:0,0:88,31:62,113:5,17:NM_002482.3(NASP) c.1667-155T>C,-:0.54,-:NOT_FOUND,- 1 46080874 . G . . NT END=46080976;NT GT ./. 1 46080947 rs1972410 A C 123 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.3125,C/0.6875,T/.;Gene=NASP/NM_001195193.1/0;CC=c.1664-30A>C;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.1856-30A>C;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.839-30A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:75:42:0:0:35,40:1127,1261:0.00,122.56:0.00,64.93:0.00,57.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,33.0:0,0:0,0:67,65:76,84:43,35:-,NM_002482.3(NASP) c.1856-30A>C:-,0.71:-,0.722359 1 46081144 . G . . NT END=46082008;NT GT ./. 1 46081282 rs2991986 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3207,C/0.6793;PC=0.001;Gene=NASP/NM_001195193.1/0;CC=c.1830+139T>C;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.2022+139T>C;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.1005+139T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,T:14:0:0:0:6,8:184,265:17.11,0.00:0.00,0.00:17.11,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:34.3,0.0:0,0:0,0:111,53:40,97:28,46:NM_002482.3(NASP) c.2022+139T>C,-:0.69,-:NOT_FOUND,- 1 46081940 rs2356581 T A 65 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.01518,A/0.9848;Gene=NASP/NM_001195193.1/0;CC=c.1831-69T>A;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.2023-69T>A;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.1006-69T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:A,T:19:16:0:0:18,1:578,13:64.80,0.00:47.14,0.00:17.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.3,28.0:0,0:0,0:49,9:101,142:17,0:NM_002482.3(NASP) c.2023-69T>A,NM_002482.3(NASP) c.2023-69T>A:0.98,0.98:0.967806,0.967806 1 46081960 rs2253862 C T 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.3145,T/0.6855;PC=0.004;Gene=NASP/NM_001195193.1/0;CC=c.1831-49C>T;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.2023-49C>T;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.1006-49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:20:0:0:13,12:400,365:0.00,34.67:0.00,19.83:0.00,14.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.1,65.8:0,0:0,0:58,38:84,111:29,15:-,NM_002482.3(NASP) c.2023-49C>T:-,0.7:-,0.721898 1 46082066 . G . . NT END=46082297;NT GT ./. 1 46082376 . G . . NT END=46083134;NT GT ./. 1 46082431 rs2991988 C A 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3145,A/0.6855;Gene=NASP/NM_001195193.1/0;CC=c.1965+56C>A;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.2157+56C>A;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.1140+56C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:A,C:20:0:0:0:7,13:195,414:17.21,0.00:0.00,0.00:17.21,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:31.3,11.7:0,0:0,0:120,106:31,44:10,22:NM_002482.3(NASP) c.2157+56C>A,-:0.7,-:0.717258,- 1 46082965 rs2991989 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3141,T/0.6859;Gene=NASP/NM_001195193.1/0;CC=c.1966-170C>T;VC=Intron;Gene=NASP/NM_002482.3/1;CC=c.2158-170C>T;VC=Intron;Gene=NASP/NM_152298.3/0;CC=c.1141-170C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:9:8:0:0:3,6:103,188:0.00,19.17:0.00,15.67:0.00,3.50:0.00,0.99:0.00,1.00:0.00,0.78:60,60:0.0,44.2:0,0:0,0:110,31:40,113:30,21:-,NM_002482.3(NASP) c.2158-170C>T:-,0.7:-,NOT_FOUND 1 46083264 . G . . NT END=46083732;NT GT ./. 1 46083814 . G . . NT END=46085946;NT GT ./. 1 46085852 rs2275085 C T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.3219,T/0.6781;Gene=CCDC17/NM_001114938.2/0;CC=c.*95G>A;VC=3UTR;Gene=CCDC17/NM_001190182.1/1;CC=c.*95G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:34:0:0:17,17:568,523:0.00,50.15:0.00,50.30:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.67:60,60:4.4,64.8:0,0:0,0:40,52:111,97:26,29:-,NM_001114938.2(CCDC17) c.*95G>A:-,0.69:-,NOT_FOUND 1 46085879 rs2275086 C G 84 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.3147,G/0.6853;PC=0.157;Gene=CCDC17/NM_001114938.2/0;CC=c.*68G>C;VC=3UTR;Gene=CCDC17/NM_001190182.1/1;CC=c.*68G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:46:0:0:21,25:686,859:0.00,84.06:0.00,78.73:0.00,5.33:0.00,1.00:0.00,1.00:0.00,0.98:60,60:3.5,57.1:0,0:0,0:60,50:91,92:29,37:-,NM_001114938.2(CCDC17) c.*68G>C:-,0.7:-,NOT_FOUND 1 46086077 rs3014246 C T 182 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.3135,T/0.6865;PC=0.005;Gene=CCDC17/NM_001114938.2/0;CC=c.1739G>A;ProtCh=p.S580N;VC=Missense;Gene=CCDC17/NM_001190182.1/1;CC=c.1712G>A;ProtCh=p.S571N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:60:0:0:50,58:1695,1869:0.00,182.19:0.00,70.81:0.00,111.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,42.9:0,0:0,0:81,58:65,84:38,34:-,NM_001114938.2(CCDC17) c.1739G>A (p.Ser580Asn):-,0.71:-,0.719779 1 46086106 . C . . NT END=46086199;NT GT ./. 1 46086786 . C . . NT END=46086952;NT GT ./. 1 46086913 rs3014245 C T 117 nt VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.3143,T/0.6857;Gene=CCDC17/NM_001114938.2/0;CC=c.1388+40G>A;VC=Intron;Gene=CCDC17/NM_001190182.1/1;CC=c.1361+40G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:60:0:0:37,38:1181,1214:0.00,116.94:0.00,86.71:0.00,30.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,40.4:0,0:0,0:68,60:83,90:36,43:-,NM_001114938.2(CCDC17) c.1388+40G>A:-,0.7:-,0.724064 1 46087157 . C . . NT END=46087309;NT GT ./. 1 46087577 rs3014242 G A 185 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.3229,A/0.6771;PC=0.572;Gene=CCDC17/NM_001114938.2/0;CC=c.1058C>T;ProtCh=p.P353L;VC=Missense;Gene=CCDC17/NM_001190182.1/1;CC=c.1031C>T;ProtCh=p.P344L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:68:0:0:58,61:1932,1878:185.13,0.00:68.10,0.00:117.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,14.6:0,0:0,0:80,73:70,74:41,36:NM_001114938.2(CCDC17) c.1058C>T (p.Pro353Leu),-:0.66,-:0.71936,- 1 46087668 . C . . NT END=46087912;NT GT ./. 1 46087879 rs544107625 A G 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.3127,G/0.6855;DB;DBA=NA;PAF=A/0.3127,AG/0.001797,ATAG/.;Gene=CCDC17/NM_001114938.2/0;CC=c.967+34T>C;VC=Intron;Gene=CCDC17/NM_001190182.1/1;CC=c.940+34T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:39:0:0:28,25:902,785:0.00,74.52:0.00,52.61:0.00,21.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,40.7:0,0:0,0:23,48:127,101:17,37:-,NM_001114938.2(CCDC17) c.967+34T>C:-,0.71:-,0.720624 1 46088021 . C . . NT END=46088220;NT GT ./. 1 46088340 . C . . NT END=46088422;NT GT ./. 1 46088507 . C . . NT END=46088626;NT GT ./. 1 46089225 rs3014240 C G 162 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.3145,G/0.6855;PC=0.002;Gene=CCDC17/NM_001114938.2/0;CC=c.270+4G>C;VC=Intron;Gene=CCDC17/NM_001190182.1/1;CC=c.270+4G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:114:65:0:0:61,53:2030,1709:0.00,161.94:0.00,73.83:0.00,88.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,42.7:0,0:0,0:86,98:63,53:42,31:-,NM_001114938.2(CCDC17) c.270+4G>C:-,0.71:-,NOT_FOUND 1 46089582 . G . . NT END=46093926;NT GT ./. 1 46089801 rs3014239 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3207,A/0.6793 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,C,G:8:0:0:0:3,1,4:106,5,128:9.94,-0.01,0.00:0.00,0.00,0.00:9.94,-0.01,0.00:0.67,0.00,0.00:0.00,0.00,0.00:0.67,0.00,0.00:60,60,60:50.7,21.0,2.5:0,0,0:0,0,0:69,115,104:82,36,46:31,0,25:NM_001114938.2(CCDC17) c.-150-u70C>T,-:0.69,-:NOT_FOUND,- 1 46094027 rs1250 A G 131 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.6775,G/0.3225;PC=1.000;Gene=GPBP1L1/NM_021639.4/1;CC=c.1326T>C;ProtCh=p.S442=;VC=Silent;DM=GPBP1L1/Vasculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:46:0:0:36,42:1048,1339:0.00,130.61:0.00,60.52:0.00,70.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.6,40.2:0,0:0,0:74,83:66,63:34,36:-,NM_021639.4(GPBP1L1) c.1326T>C (p.(=)):-,0.31:-,0.28087 1 46094081 . C . . NT END=46095246;NT GT ./. 1 46094236 rs4391704 A G 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4389,G/0.5611;Gene=GPBP1L1/NM_021639.4/1;CC=c.1273-156T>C;VC=Intron;DM=GPBP1L1/Vasculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:0:0:0:8,12:248,409:0.00,40.78:0.00,0.00:0.00,40.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.0,51.4:0,0:0,0:90,69:60,75:32,41:-,NM_021639.4(GPBP1L1) c.1273-156T>C:-,0.53:-,NOT_FOUND 1 46095143 rs374105264 C A,T 15 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6687,A/0.3313;DB;DBA=NA;PAF=NA;DM=GPBP1L1/Vasculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:A,T:5:5:0:0:4,1:130,13:14.52,1.09:14.52,1.09:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:86.2,103.0:0,0:0,0:44,5:104,146:38,0:NM_021639.4(GPBP1L1) c.1272+105G>T,NM_021639.4(GPBP1L1) c.1272+105G>A:0.3,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 46095272 rs1135812 T C 64 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6809,A/.,C/0.3191;PC=1.000;Gene=GPBP1L1/NM_021639.4/1;CC=c.1248A>G;ProtCh=p.K416=;VC=Silent;DM=GPBP1L1/Vasculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:23:0:0:19,15:649,508:63.83,0.00:26.65,0.00:37.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,11.1:0,0:0,0:48,64:102,87:31,33:NM_021639.4(GPBP1L1) c.1248A>G (p.(=)),-:0.3,-:0.281639,- 1 46095351 . C . . NT END=46096152;NT GT ./. 1 46095976 rs6703748 G A 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6829,A/0.3171;Gene=GPBP1L1/NM_021639.4/1;CC=c.1169+178C>T;VC=Intron;DM=GPBP1L1/Vasculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:7,9:204,305:18.95,0.00:18.95,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:34.6,8.1:0,0:0,0:53,56:98,95:25,30:NM_021639.4(GPBP1L1) c.1169+178C>T,-:0.3,-:NOT_FOUND,- 1 46096279 . C . . NT END=46099159;NT GT ./. 1 46096402 rs10708598 AT A 43 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=AT/0.6745,A/0.3255;NP=703;PC=0.002;Gene=GPBP1L1/NM_021639.4/1;CC=c.1045-125delA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,A:25:0:0:14:10,1,14:288,10,438:0.00,0.13,43.43:0.00,0.00,0.00:0.00,0.13,43.43:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:14.4,64.0,8.2:0,0,0:0,0,0:88,105,85:60,44,66:20,0,32:-,NM_021639.4(GPBP1L1) c.1045-125delA:-,0.31:-,NOT_FOUND 1 46096442 rs397980100 CA C 53 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CA/0.127,C/0.873;DB;DBA=NA;PAF=CA/0.127,C/0.873;NP=1473;PC=0.004;Gene=GPBP1L1/NM_021639.4/1;CC=c.1045-165delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:CA,C:20:0:0:16:4,16:105,497:0.00,53.02:0.00,0.00:0.00,53.02:0.00,1.00:0.00,0.00:0.00,1.00:60,60:29.0,24.1:0,0:0,0:146,108:4,38:1,23:-,NM_021639.4(GPBP1L1) c.1045-165delT:-,0.88:-,NOT_FOUND 1 46099320 . C . . NT END=46099766;NT GT ./. 1 46099909 . C . . NT END=46105880;NT GT ./. 1 46105725 rs66580837 GA G 9 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=214;Gene=GPBP1L1/NM_021639.4/1;CC=c.744+156delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:GA,I,G:9:10:4:3:3,3,3:107,127,98:0.00,9.00,9.20:0.00,9.08,9.28:0.00,-0.08,-0.08:0.00,0.00,0.62:0.00,0.00,0.62:0.00,0.00,0.53:60,60,60:0.0,10.3,12.3:0,1,0:0,0,0:127,9,17:22,142,134:8,2,13:-,NM_021639.4(GPBP1L1) c.744+156delT:-,NOT_FOUND:-,NOT_FOUND 1 46106076 . C . . NT END=46108097;NT GT ./. 1 46107868 rs12091503 T C 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6739,C/0.3261;PC=0.002;Gene=GPBP1L1/NM_021639.4/1;CC=c.550+231A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:4:4:0:0:3,1:105,30:10.95,0.00:10.95,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,42:44.3,193.0:0,0:0,0:55,5:96,133:4,0:NM_021639.4(GPBP1L1) c.550+231A>G,-:0.31,-:NOT_FOUND,- 1 46108172 . C . . NT END=46120213;NT GT ./. 1 46120502 . C . . NT END=46120860;NT GT ./. 1 46120992 . C . . NT END=46124698;NT GT ./. 1 46124663 rs6671802 A G 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4966,G/0.5034;Gene=GPBP1L1/NM_021639.4/1;CC=c.60+37T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:26:0:0:15,14:492,438:0.00,41.76:0.00,35.15:0.00,6.61:0.00,1.00:0.00,1.00:0.00,0.97:60,60:5.4,41.6:0,0:0,0:51,36:99,114:29,13:-,NM_021639.4(GPBP1L1) c.60+37T>C:-,0.49:-,0.546286 1 46124815 . C . . NT END=46125854;NT GT ./. 1 46125790 rs3811435 C A 80 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6739,A/0.3261;Gene=GPBP1L1/NM_021639.4/1;CC=c.-56+66G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:45:42:0:0:26,19:809,600:79.93,0.00:62.32,0.00:17.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.5,13.4:0,0:0,0:47,62:103,89:35,32:NM_021639.4(GPBP1L1) c.-56+66G>T,-:0.31,-:NOT_FOUND,- 1 46125880 rs3811436 T C 159 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.6801,C/0.3199;PC=1.000;Gene=GPBP1L1/NM_021639.4/1;CC=c.-80A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:103:86:0:0:1,53,49:25,1644,1581:0.81,159.02,0.00:0.86,108.28,0.00:-0.05,50.73,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:32.0,43.4,12.6:0,0,0:0,0,0:63,59,45:88,84,100:0,33,19:NM_021639.4(GPBP1L1) c.-80A>G,-:0.3,-:NOT_FOUND,- 1 46126240 . A . . NT END=46156740;NT GT ./. 1 46156492 rs12037803 A G 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6743,G/0.3257;Gene=TMEM69/NM_016486.3/1;CC=c.-95-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:9:9:0:0:5,4:148,118:0.00,11.03:0.00,11.03:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:9.4,49.8:0,0:0,0:37,52:114,98:15,28:-,NM_016486.3(TMEM69) c.-95-154A>G:-,0.31:-,NOT_FOUND 1 46156783 . G . . NT END=46158875;NT GT ./. 1 46159578 . A . . NT END=46160089;NT GT ./. 1 46159809 rs1071839 T A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=4;PC=0.010;Gene=TMEM69/NM_016486.3/1;CC=c.*232T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,T:8:0:0:0:4,4:130,125:12.50,0.00:0.00,0.00:12.50,0.00:0.87,0.00:0.00,0.00:0.87,0.00:70,60:35.0,22.8:3,0:0,0:125,120:25,30:11,8:NM_016486.3(TMEM69) c.*232T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 46159813 rs145384782 AATAT A 9 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=6;PC=0.035;Gene=TMEM69/NM_016486.3/1;CC=c.*246_*249delTATA;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:AATAT,A:9:0:0:3:6,3:164,98:0.00,8.75:0.00,0.00:0.00,8.75:0.00,0.64:0.00,0.00:0.00,0.64:60,70:20.5,36.0:0,0:0,0:124,118:26,32:16,21:-,NM_016486.3(TMEM69) c.*238TA[4]:-,NOT_FOUND:-,NOT_FOUND 1 46160188 . C . . NT END=46164390;NT GT ./. 1 46160260 rs6658700 C T 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6805,T/0.3195;PC=0.973;Gene=IPP/NM_001145349.1/1;CC=c.1652-73G>A;VC=Intron;DM=IPP/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:2:0:0:6,8:199,247:0.00,24.36:0.00,-0.74:0.00,25.10:0.00,1.00:0.00,0.85:0.00,1.00:60,60:8.7,30.9:0,0:0,0:125,66:24,83:17,41:-,NM_001145349.1(IPP) c.1652-73G>A:-,0.3:-,NOT_FOUND 1 46164389 rs199546340 CTTTTTTTTTT C 34 idl,nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=146;PC=0.034;Gene=IPP/NM_001145349.1/1;CC=c.1651+1343_1651+1352delAAAAAAAAAA;VC=Intron;DM=IPP/Kelch_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTTTTTTTT,T,I,C:27:17:3:16:12,2,2,11:391,61,93,519:0.00,4.30,4.30,33.59:0.00,-0.19,-0.19,10.17:0.00,4.49,4.49,23.42:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:16.0,30.5,63.5,14.7:0,0,1,5:0,0,0,0:134,25,115,103:10,105,36,37:12,25,7,23:-,NM_005897.2(IPP) c.*1239_*1247+d1delAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 46164401 . t . . NT END=46164677;NT GT ./. 1 46164846 rs10749856 A T 133 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.6751,T/0.3249;PC=0.218;Gene=IPP/NM_001145349.1/1;CC=c.1651+896T>A;VC=Intron;Gene=IPP/NM_005897.2/0;CC=c.*792T>A;VC=3UTR;DM=IPP/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:78:45:0:0:36,42:1117,1368:0.00,133.44:0.00,58.55:0.00,74.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,36.8:0,0:0,0:71,76:74,71:34,36:-,NM_005897.2(IPP) c.*792T>A:-,0.31:-,NOT_FOUND 1 46165863 . C . . NT END=46179916;NT GT ./. 1 46165875 rs5773892 G GA 72 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=915;PC=0.802;Gene=IPP/NM_001145349.1/1;CC=c.1531-14dupT;VC=Intron;Gene=IPP/NM_005897.2/0;CC=c.1531-14dupT;VC=Intron;DM=IPP/Kelch_1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA,D:57:25:26:3:2,28,24,3:41,823,824,96:1.97,0.00,71.65,6.53:1.98,0.00,22.38,4.58:-0.02,0.00,49.27,1.94:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:26.0,11.2,9.6,3.7:1,0,2,0:0,0,0,0:39,106,91,48:111,44,56,102:22,35,31,45:-,NM_005897.2(IPP) c.1531-14_1531-13insT:-,NOT_FOUND:-,NOT_FOUND 1 46166073 rs59287863 CA C 9 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CA/0.6753,C/0.3247;NP=29;PC=0.001;Gene=IPP/NM_001145349.1/1;CC=c.1531-212delT;VC=Intron;Gene=IPP/NM_005897.2/0;CC=c.1531-212delT;VC=Intron;DM=IPP/Kelch_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:CA,C:11:0:0:3:8,3:242,100:0.00,8.64:0.00,0.00:0.00,8.64:0.00,0.60:0.00,0.00:0.00,0.60:60,60:8.4,34.3:0,0:0,0:127,103:23,48:20,10:-,NM_005897.2(IPP) c.1531-212delT:-,0.31:-,NOT_FOUND 1 46166090 rs10890344 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6751,A/.,T/0.3249;Gene=IPP/NM_001145349.1/1;CC=c.1531-228G>A;VC=Intron;Gene=IPP/NM_005897.2/0;CC=c.1531-228G>A;VC=Intron;DM=IPP/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,T:7:0:0:0:4,3:83,103:0.00,9.69:0.00,0.00:0.00,9.69:0.00,0.69:0.00,0.00:0.00,0.69:60,60:12.0,34.3:0,0:0,0:113,119:37,32:21,10:-,NM_005897.2(IPP) c.1531-228G>A:-,0.31:-,NOT_FOUND 1 46180139 . C . . NT END=46182566;NT GT ./. 1 46182690 . C . . NT END=46184874;NT GT ./. 1 46185013 . C . . NT END=46193302;NT GT ./. 1 46193471 . C . . NT END=46195285;NT GT ./. 1 46195211 rs372814348 TAAC T 37 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=TAAC/0.6871,T/0.3129;DB;DBA=NA;PAF=TAAC/0.6871,T/0.3129;NP=1273;Gene=IPP/NM_001145349.1/1;CC=c.880+72_880+74delGTT;VC=Intron;Gene=IPP/NM_005897.2/0;CC=c.880+72_880+74delGTT;VC=Intron;DM=IPP/Kelch_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAC,T:26:26:0:12:14,12:448,391:0.00,37.03:0.00,35.40:0.00,1.64:0.00,1.00:0.00,1.00:0.00,0.76:60,70:10.2,3.6:0,0:0,0:64,64:86,86:31,31:-,NM_005897.2(IPP) c.880+72_880+74delGTT:-,0.29:-,NOT_FOUND 1 46195375 rs28375469 T C 84 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.6851,C/0.3149;PC=1.000;Gene=IPP/NM_001145349.1/1;CC=c.791A>G;ProtCh=p.K264R;VC=Missense;Gene=IPP/NM_005897.2/0;CC=c.791A>G;ProtCh=p.K264R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:33:0:0:26,31:887,990:84.05,0.00:40.86,0.00:43.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,17.9:0,0:0,0:94,82:55,66:35,25:NM_005897.2(IPP) c.791A>G (p.Lys264Arg),-:0.3,-:0.27941,- 1 46195442 . C . . NT END=46206572;NT GT ./. 1 46206399 rs28647556 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5016,A/0.4984;PC=0.008;Gene=IPP/NM_001145349.1/1;CC=c.724+174C>T;VC=Intron;Gene=IPP/NM_005897.2/0;CC=c.724+174C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:10:10:0:0:5,5:160,153:15.39,0.00:15.39,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:39.4,23.8:0,0:0,0:40,87:110,63:7,21:NM_005897.2(IPP) c.724+174C>T,-:0.49,-:NOT_FOUND,- 1 46206540 rs28507722 A G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.6851,G/0.3149;PC=0.036;Gene=IPP/NM_001145349.1/1;CC=c.724+33T>C;VC=Intron;Gene=IPP/NM_005897.2/0;CC=c.724+33T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:26:0:0:16,14:479,451:0.00,42.80:0.00,38.22:0.00,4.58:0.00,1.00:0.00,1.00:0.00,0.97:60,60:13.5,43.1:0,0:0,0:42,60:109,91:20,43:-,NM_005897.2(IPP) c.724+33T>C:-,0.3:-,0.279222 1 46207005 . C . . NT END=46211791;NT GT ./. 1 46212084 . G . . NT END=46269567;NT GT ./. 1 46269352 rs12081398 T G 137 nt VT=SNV;PN=G;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.001997,G/0.998;PC=0.035;Gene=MAST2/NM_015112.2/1;CC=c.-216T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G:38:38:0:0:38:1193:137.36:135.32:2.04:1.00:1.00:1.00:60:38.9:0:0:51:97:27:NM_015112.2(MAST2) c.-216T>G,NM_015112.2(MAST2) c.-216T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 46269425 . G A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;PC=0.372;Gene=MAST2/NM_015112.2/1;CC=c.-143G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:58:50:0:0:12,45,1:370,1360,29:30.03,0.00,1.28:23.21,0.00,1.38:6.82,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:40,60,43:47.2,28.2,29.0:0,0,0:0,0,0:51,64,64:99,78,87:3,36,0:NM_015112.2(MAST2) c.-143G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 46269524 . C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=78;PC=0.996;Gene=MAST2/NM_015112.2/1;CC=c.-44C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,T:78:29:0:0:68,10:2052,289:0.00,20.76:0.00,4.22:0.00,16.54:0.00,0.98:0.00,0.94:0.00,1.00:40,40:10.0,61.0:0,0:0,0:70,117:80,34:36,23:-,NM_015112.2(MAST2) c.-44C>T:-,NOT_FOUND:-,NOT_FOUND 1 46269745 . G . . NT END=46290104;NT GT ./. 1 46290253 . G . . NT END=46295110;NT GT ./. 1 46290311 rs397826325 GTA G 50 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=GTA/0.6236,G/0.3764;DB;DBA=NA;PAF=GTA/0.6236,G/0.3764;DB;DBA=NA;PAF=NA;NP=1721;Gene=MAST2/NM_015112.2/1;CC=c.325+63_325+64delAT;VC=Intron;DM=MAST2/DUF1908;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTA,G:47:10:0:17:30,17:1000,549:0.00,49.65:0.00,6.71:0.00,42.94:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.7,8.8:0,0:0,0:107,98:37,53:32,25:-,NM_015112.2(MAST2) c.325+60_325+61delTA:-,0.33:-,NOT_FOUND 1 46295254 . G . . NT END=46348035;NT GT ./. 1 46313297 rs184852200 C T 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9972,T/0.002796;NP=35;PC=0.001;Gene=MAST2/NM_015112.2/1;CC=c.468+18044C>T;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:7:0:0:9,8:308,248:0.00,23.51:0.00,6.36:0.00,17.15:0.00,0.99:0.00,0.98:0.00,1.00:60,60:0.0,34.9:0,0:0,0:109,97:41,52:34,25:-,NM_015112.2(MAST2) c.468+18044C>T:-,0.0018:-,NOT_FOUND 1 46325873 rs10522196 TAC T 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=173;PC=0.090;Gene=MAST2/NM_015112.2/1;CC=c.469-22133_469-22132delCA;VC=Intron;DM=MAST2/DUF1908;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:TAC,I,T:6:5:1:3:2,1,3:67,33,98:0.00,2.84,9.73:0.00,1.38,4.71:0.00,1.46,5.01:0.00,0.00,0.73:0.00,0.00,0.96:0.00,0.00,0.51:60,60,60:0.0,0.0,4.7:0,0,0:0,0,0:88,94,46:62,57,70:34,0,10:-,NM_015112.2(MAST2) c.469-22162_469-22161delAC:-,NOT_FOUND:-,NOT_FOUND 1 46347875 rs56242896 A T 10 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.00599,T/0.994;PC=0.067;Gene=MAST2/NM_015112.2/1;CC=c.469-161A>T;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,T:9:8:0:0:5,4:158,111:0.00,10.31:0.00,6.88:0.00,3.42:0.00,0.85:0.00,0.98:0.00,0.63:60,60:109.0,110.0:0,4:0,0:7,33:143,107:6,11:-,NM_015112.2(MAST2) c.469-161A>T:-,NOT_FOUND:-,NOT_FOUND 1 46347876 rs11211216 A T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=68;PC=0.177;Gene=MAST2/NM_015112.2/1;CC=c.469-160A>T;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,T:9:8:0:0:4,5:130,157:0.00,15.40:0.00,15.75:0.00,-0.35:0.00,0.96:0.00,1.00:0.00,0.70:60,60:110.0,109.0:4,0:0,0:34,8:106,142:11,6:-,NM_015112.2(MAST2) c.469-160A>T:-,NOT_FOUND:-,NOT_FOUND 1 46347878 rs201525530 AT A 11 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AT/0.00599,A/0.994,AA/.;NP=509;PC=0.292;Gene=MAST2/NM_015112.2/1;CC=c.469-157delT;VC=Intron;DM=MAST2/DUF1908;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:AT,A:10:9:0:4:6,4:191,125:0.00,11.49:0.00,8.51:0.00,2.98:0.00,0.84:0.00,0.98:0.00,0.60:60,60:99.5,110.0:0,0:0,0:9,36:141,104:6,11:-,NM_015112.2(MAST2) c.469-157delT:-,0.99:-,NOT_FOUND 1 46347879 rs372665703 T A 21 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.006789,A/0.9932;DB;DBA=NA;PAF=NA;NP=149;PC=0.292;Gene=MAST2/NM_015112.2/1;CC=c.469-157T>A;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:4:6:183:21.16:21.16:0.00:1.00:1.00:0.00:60:99.5:0:0:10:140:6:NM_015112.2(MAST2) c.469-157T>A,NM_015112.2(MAST2) c.469-157T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 46347889 rs115467181 T G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9808,G/0.01917;PC=0.735;Gene=MAST2/NM_015112.2/1;CC=c.469-147T>G;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:G,T:11:10:0:0:5,6:153,168:14.40,0.00:10.86,0.00:3.53,0.00:0.93,0.00:0.99,0.00:0.64,0.00:60,60:114.4,82.8:0,0:0,0:46,17:104,133:21,10:NM_015112.2(MAST2) c.469-147T>G,-:0.02,-:NOT_FOUND,- 1 46347910 rs6665193 G A 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.1256,A/0.8744;PC=0.001;Gene=MAST2/NM_015112.2/1;CC=c.469-126G>A;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:16:0:0:17:536:61.71:54.50:7.20:1.00:1.00:1.00:60:75.2:0:0:36:115:27:NM_015112.2(MAST2) c.469-126G>A,NM_015112.2(MAST2) c.469-126G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 46348068 . G . . NT END=46379257;NT GT ./. 1 46348229 rs11211217 C G 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6226,G/0.3774;Gene=MAST2/NM_015112.2/1;CC=c.500+162C>G;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,G:13:0:0:0:4,9:136,291:0.00,29.88:0.00,0.00:0.00,29.88:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.0,37.0:0,0:0,0:103,89:46,61:20,36:-,NM_015112.2(MAST2) c.500+162C>G:-,0.33:-,NOT_FOUND 1 46379518 rs4256763 A G 308 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.1258,G/0.8742;PC=1.000;Gene=MAST2/NM_015112.2/1;CC=c.500+31451A>G;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:86:51:0:0:85,1:2680,7:307.78,0.05:139.32,0.00:168.46,0.05:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,7.0:0,0:0,0:60,45:77,105:36,0:NM_015112.2(MAST2) c.500+31451A>G,NM_015112.2(MAST2) c.500+31451A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 46379560 . G . . NT END=46383010;NT GT ./. 1 46382852 rs6687301 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6248,C/0.3752;PC=0.026;Gene=MAST2/NM_015112.2/1;CC=c.500+34785T>C;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:C,T:13:13:0:0:6,7:170,233:15.94,0.00:15.94,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:43.7,3.4:0,0:0,0:44,48:107,103:16,22:NM_015112.2(MAST2) c.500+34785T>C,-:0.33,-:NOT_FOUND,- 1 46383206 . G . . NT END=46425057;NT GT ./. 1 46424864 rs34102169 G T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5144,T/0.4856;Gene=MAST2/NM_015112.2/1;CC=c.501-194G>T;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:G,T:14:14:0:0:10,4:323,130:0.00,11.27:0.00,11.27:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:60,60:30.9,65.5:0,0:0,0:32,27:119,122:17,9:-,NM_015112.2(MAST2) c.501-194G>T:-,0.51:-,NOT_FOUND 1 46424964 rs4460582 G A 114 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.001997,A/0.998;Gene=MAST2/NM_015112.2/1;CC=c.501-94G>A;VC=Intron;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:31:0:0:32:985:113.64:104.60:9.04:1.00:1.00:1.00:60:39.0:0:0:69:82:47:NM_015112.2(MAST2) c.501-94G>A,NM_015112.2(MAST2) c.501-94G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 46425150 . G . . NT END=46463395;NT GT ./. 1 46463472 . G . . NT END=46466630;NT GT ./. 1 46466391 rs11579634 C T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5152,T/0.4848;Gene=MAST2/NM_015112.2/1;CC=c.669-2086C>T;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,T:8:8:0:0:5,3:146,76:0.00,6.72:0.00,6.72:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:4.6,25.3:0,0:0,0:76,62:74,89:18,23:-,NM_015112.2(MAST2) c.669-2086C>T:-,0.51:-,NOT_FOUND 1 46466652 . G . . NT END=46468476;NT GT ./. 1 46466721 rs11589562 T C 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.516,C/0.484;PC=0.008;Gene=MAST2/NM_015112.2/1;CC=c.669-1756T>C;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:11:0:0:14,19:333,617:30.08,0.00:5.13,0.00:24.95,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:54.2,5.4:0,0:0,0:82,109:67,41:36,21:NM_015112.2(MAST2) c.669-1756T>C,-:0.51,-:NOT_FOUND,- 1 46468556 . G . . NT END=46471912;NT GT ./. 1 46472068 . G . . NT END=46473967;NT GT ./. 1 46472153 rs6429592 G A 183 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.1256,A/0.8744;PC=0.009;Gene=MAST2/NM_015112.2/1;CC=c.902+86G>A;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A:51:12:0:0:51:1589:183.10:26.99:156.11:1.00:1.00:1.00:60:50.6:0:0:101:42:31:NM_015112.2(MAST2) c.902+86G>A,NM_015112.2(MAST2) c.902+86G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 46473802 rs3922887 A G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6332,G/0.3668;Gene=MAST2/NM_015112.2/1;CC=c.903-166A>G;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,G:9:9:0:0:4,5:101,126:0.00,12.24:0.00,12.24:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:37.8,59.2:0,0:0,0:58,61:92,90:22,55:-,NM_015112.2(MAST2) c.903-166A>G:-,0.32:-,NOT_FOUND 1 46473902 rs3922886 A T 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6332,T/0.3668;Gene=MAST2/NM_015112.2/1;CC=c.903-66A>T;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:15:0:0:9,8:299,223:0.00,20.99:0.00,16.91:0.00,4.08:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,34.4:0,0:0,0:70,41:81,109:22,28:-,NM_015112.2(MAST2) c.903-66A>T:-,0.32:-,NOT_FOUND 1 46474044 . G . . NT END=46476401;NT GT ./. 1 46476587 rs11211247 T G 249 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.1256,G/0.8744;PC=1.000;Gene=MAST2/NM_015112.2/1;CC=c.1164T>G;ProtCh=p.D388E;VC=Missense;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:27:0:0:66:2177:249.11:67.97:181.15:1.00:1.00:1.00:60:36.2:0:0:88:57:30:NM_015112.2(MAST2) c.1164T>G (p.Asp388Glu),NM_015112.2(MAST2) c.1164T>G (p.Asp388Glu):0.86,0.86:0.786384,0.786384 1 46476612 . G . . NT END=46485267;NT GT ./. 1 46476746 rs35155395 TG T 23 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=TG/0.6336,T/0.3664;NP=335;Gene=MAST2/NM_015112.2/1;CC=c.1188+136delG;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:16:0:0:8:8,8:271,238:0.00,22.80:0.00,0.00:0.00,22.80:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.6,59.9:0,0:0,0:96,93:53,58:29,38:-,NM_015112.2(MAST2) c.1188+136delG:-,0.32:-,NOT_FOUND 1 46476844 rs11211248 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6246,G/0.3754;PC=0.001;Gene=MAST2/NM_015112.2/1;CC=c.1188+233A>G;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,G:8:0:0:0:4,4:133,132:0.00,12.70:0.00,0.00:0.00,12.70:0.00,0.87:0.00,0.00:0.00,0.87:60,60:0.0,62.0:0,0:0,0:106,92:44,57:29,32:-,NM_015112.2(MAST2) c.1188+233A>G:-,0.33:-,NOT_FOUND 1 46476864 rs41291502 G A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9822,A/0.01777;Gene=MAST2/NM_015112.2/1;CC=c.1188+253G>A;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/DUF1908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:7:0:0:0:4,3:126,102:12.43,0.00:0.00,0.00:12.43,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:65.2,0.0:0,0:0,0:70,103:79,47:41,20:NM_015112.2(MAST2) c.1188+253G>A,-:0.02,-:NOT_FOUND,- 1 46485370 . G . . NT END=46487621;NT GT ./. 1 46487552 rs2275426 G A 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.5152,A/0.4848;Gene=MAST2/NM_015112.2/1;CC=c.1291-70G>A;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:34:0:0:14,22:451,720:41.34,0.00:32.19,0.00:9.15,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:70.5,6.6:0,0:0,0:59,52:89,98:37,35:NM_015112.2(MAST2) c.1291-70G>A,-:0.51,-:NOT_FOUND,- 1 46487560 rs946524 A G 49 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.3754,G/0.6246;Gene=MAST2/NM_015112.2/1;CC=c.1291-62A>G;VC=Intron;DM=MAST2/DUF1908;DM=MAST2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:36:0:0:22,17:708,524:0.00,48.92:0.00,36.36:0.00,12.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,65.3:0,0:0,0:51,49:98,84:27,38:-,NM_015112.2(MAST2) c.1291-62A>G:-,0.67:-,NOT_FOUND 1 46487755 . G . . NT END=46488581;NT GT ./. 1 46487976 rs4660336 T C 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3752,C/0.6248;Gene=MAST2/NM_015112.2/1;CC=c.1423+222T>C;VC=Intron;DM=MAST2/Pkinase;DM=MAST2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T:9:0:0:0:5,4:115,112:11.12,0.00:0.00,0.00:11.12,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:43.2,3.2:0,0:0,0:99,105:50,45:23,24:NM_015112.2(MAST2) c.1423+222T>C,-:0.67,-:NOT_FOUND,- 1 46488644 . G . . NT END=46488904;NT GT ./. 1 46488991 . G . . NT END=46489443;NT GT ./. 1 46489653 . G . . NT END=46491348;NT GT ./. 1 46491488 . G . . NT END=46493402;NT GT ./. 1 46491635 rs785478 C T 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3756,T/0.6244;PC=0.004;Gene=MAST2/NM_015112.2/1;CC=c.1919+148C>T;VC=Intron;DM=MAST2/Pkinase;DM=MAST2/Pkinase;DM=MAST2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:26:0:0:0:1,16,9:22,490,252:1.01,0.00,22.38:0.00,0.00,0.00:1.01,0.00,22.38:0.00,0.00,0.99:0.00,0.00,0.00:0.00,0.00,0.99:60,60,60:22.0,1.4,28.0:0,0,0:0,0,0:55,80,85:96,70,65:0,38,39:-,NM_015112.2(MAST2) c.1919+148C>T:-,0.67:-,NOT_FOUND 1 46493460 rs1707336 T G 138 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.5148,G/0.4852;PC=0.266;Gene=MAST2/NM_015112.2/1;CC=c.1977T>G;ProtCh=p.I659M;VC=Missense;DM=MAST2/Pkinase;DM=MAST2/Pkinase;DM=MAST2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:87:69:0:0:45,42:1431,1358:138.36,0.00:75.08,0.00:63.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,7.0:0,0:0,0:83,75:62,72:27,38:NM_015112.2(MAST2) c.1977T>G (p.Ile659Met),-:0.46,-:0.429693,- 1 46493536 . G . . NT END=46494439;NT GT ./. 1 46494606 . G . . NT END=46495137;NT GT ./. 1 46495240 . G . . NT END=46495502;NT GT ./. 1 46495434 rs2236560 G A 163 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.618,A/0.382;Gene=MAST2/NM_015112.2/1;CC=c.2321-69G>A;VC=Intron;DM=MAST2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:28:0:0:47:1406:162.81:89.04:73.77:1.00:1.00:1.00:60:45.3:0:0:62:89:40:NM_015112.2(MAST2) c.2321-69G>A,NM_015112.2(MAST2) c.2321-69G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 1 46495626 . G . . NT END=46495800;NT GT ./. 1 46495911 . G . . NT END=46496278;NT GT ./. 1 46496434 . G . . NT END=46496678;NT GT ./. 1 46496709 rs925524 A G 155 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=A/0.356,G/0.644;Gene=MAST2/NM_015112.2/1;CC=c.2739A>G;ProtCh=p.S913=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:122:102:0:0:69,53:2234,1655:0.00,154.50:0.00,94.64:0.00,59.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,41.4:0,0:0,0:62,80:86,71:44,33:-,NM_015112.2(MAST2) c.2739A>G (p.(=)):-,0.68:-,0.689819 1 46496942 rs56114653 G A 304 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=21;Gene=MAST2/NM_015112.2/1;CC=c.2972G>A;ProtCh=p.R991Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:174:99:0:0:93,80,1:3120,2464,29:304.45,0.00,0.98:126.89,0.00,-0.10:177.57,0.00,1.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.8,5.0,36.0:0,0,0:0,0,0:85,69,150:64,78,1:40,37,0:NM_015112.2(MAST2) c.2972G>A (p.Arg991Gln),-:NOT_FOUND,-:0.001824,- 1 46496963 . G . . NT END=46497062;NT GT ./. 1 46497258 . G . . NT END=46497849;NT GT ./. 1 46498077 . G . . NT END=46498267;NT GT ./. 1 46498375 rs1622208 A G 207 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=A/0.3123,G/0.6877;PC=1.000;Gene=MAST2/NM_015112.2/1;CC=c.3522A>G;ProtCh=p.V1174=;VC=Silent;DM=MAST2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:124:71:0:0:58,66:1999,2132:0.00,207.41:0.00,93.30:0.00,114.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,41.3:0,0:0,0:75,93:72,55:33,37:-,NM_015112.2(MAST2) c.3522A>G (p.(=)):-,0.72:-,0.723547 1 46498391 . G . . NT END=46499473;NT GT ./. 1 46499207 rs12124649 A T 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9425,T/0.05751;PC=0.001;Gene=MAST2/NM_015112.2/1;CC=c.3538-267A>T;VC=Intron;DM=MAST2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,T:9:9:0:0:4,5:131,175:0.00,17.20:0.00,17.20:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:8.5,35.0:0,0:0,0:25,18:125,133:16,15:-,NM_015112.2(MAST2) c.3538-267A>T:-,0.06:-,NOT_FOUND 1 46499611 . G . . NT END=46499744;NT GT ./. 1 46499939 . G . . NT END=46500209;NT GT ./. 1 46501739 . C . . NT END=46509344;NT GT ./. 1 46509544 . C . . NT END=46511589;NT GT ./. 1 46509752 rs74735019 C CT 15 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PIK3R3/NM_001303429.1/0;CC=c.1011-210_1011-209insA;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.1188-210_1188-209insA;VC=Intron;Gene=PIK3R3/NM_001303428.1/0;CC=c.1239-210_1239-209insA;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.1188-210_1188-209insA;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.1326-210_1326-209insA;VC=Intron;DM=PIK3R3/SH2;DM=PIK3R3/SH2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,CT,D:14:0:5:2:8,5,1:244,164,67:0.00,15.00,2.46:0.00,0.00,0.00:0.00,15.00,2.46:0.00,0.89,0.00:0.00,0.00,0.00:0.00,0.89,0.00:60,60,60:6.2,0.0,0.0:0,0,1:0,0,0:125,89,89:25,62,61:18,22,15:-,NM_003629.3(PIK3R3) c.1188-210_1188-209insA:-,NOT_FOUND:-,NOT_FOUND 1 46511487 rs2297883 G C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3622,C/0.6378;Gene=PIK3R3/NM_001303429.1/0;CC=c.1010+103C>G;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.1187+103C>G;VC=Intron;Gene=PIK3R3/NM_001303428.1/0;CC=c.1238+103C>G;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.1187+103C>G;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.1325+103C>G;VC=Intron;DM=PIK3R3/SH2;DM=PIK3R3/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:15:15:0:0:6,9:192,241:17.71,0.00:16.24,0.00:1.47,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:49.7,4.6:0,0:0,0:31,31:119,119:23,24:NM_003629.3(PIK3R3) c.1187+103C>G,-:0.68,-:NOT_FOUND,- 1 46511761 . C . . NT END=46512222;NT GT ./. 1 46511981 rs1707338 T G 14 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.362,G/0.638;Gene=PIK3R3/NM_001303429.1/0;CC=c.840-221A>C;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.1017-221A>C;VC=Intron;Gene=PIK3R3/NM_001303428.1/0;CC=c.1068-221A>C;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.1017-221A>C;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.1155-221A>C;VC=Intron;DM=PIK3R3/PI3K_P85_iSH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:7:5:0:0:5,2:130,68:13.53,0.00:12.78,0.00:0.75,0.00:0.98,0.00:1.00,0.00:0.93,0.00:60,60:47.2,17.0:0,0:0,0:72,68:79,82:43,27:NM_003629.3(PIK3R3) c.1017-221A>C,-:0.68,-:NOT_FOUND,- 1 46512076 rs41285908 C T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9954,G/.,T/0.004593;NP=29;NP=5;PC=0.004;Gene=PIK3R3/NM_001303429.1/0;CC=c.839+147G>A;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.1016+147G>A;VC=Intron;Gene=PIK3R3/NM_001303428.1/0;CC=c.1067+147G>A;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.1016+147G>A;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.1154+147G>A;VC=Intron;DM=PIK3R3/PI3K_P85_iSH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:8:8:0:0:4,4:94,131:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:41.2,32.8:0,0:0,0:84,76:66,74:30,24:-,NM_003629.3(PIK3R3) c.1016+147G>A:-,0.0023:-,NOT_FOUND 1 46512298 . C . . NT END=46521466;NT GT ./. 1 46521517 rs785468 G A 74 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.362,A/0.638;PC=1.000;Gene=PIK3R3/NM_001303429.1/0;CC=c.764+6084C>T;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.891C>T;ProtCh=p.S297=;VC=Silent;Gene=PIK3R3/NM_001303428.1/0;CC=c.942C>T;ProtCh=p.S314=;VC=Silent;Gene=PIK3R3/NM_001114172.1/1;CC=c.891C>T;ProtCh=p.S297=;VC=Silent;Gene=PIK3R3/NM_001303427.1/0;CC=c.1029C>T;ProtCh=p.S343=;VC=Silent;DM=PIK3R3/PI3K_P85_iSH2;DM=PIK3R3/PI3K_P85_iSH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:36:0:0:26,27:780,820:74.42,0.00:34.78,0.00:39.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.8,20.7:0,0:0,0:54,67:94,56:29,45:NM_003629.3(PIK3R3) c.891C>T (p.(=)),-:0.68,-:0.671536,- 1 46521559 rs785467 A T 98 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.3179,T/0.6821;PC=1.000;Gene=PIK3R3/NM_001303429.1/0;CC=c.764+6042T>A;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.849T>A;ProtCh=p.N283K;VC=Missense;Gene=PIK3R3/NM_001303428.1/0;CC=c.900T>A;ProtCh=p.N300K;VC=Missense;Gene=PIK3R3/NM_001114172.1/1;CC=c.849T>A;ProtCh=p.N283K;VC=Missense;Gene=PIK3R3/NM_001303427.1/0;CC=c.987T>A;ProtCh=p.N329K;VC=Missense;DM=PIK3R3/PI3K_P85_iSH2;DM=PIK3R3/PI3K_P85_iSH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:59:36:0:0:27,32:835,1008:0.00,98.41:0.00,46.91:0.00,51.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.0,56.9:0,0:0,0:64,56:86,94:25,29:-,NM_003629.3(PIK3R3) c.849T>A (p.Asn283Lys):-,0.71:-,0.718284 1 46521644 . C . . NT END=46527600;NT GT ./. 1 46521792 rs785466 G A 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3189,A/0.6811;PC=0.001;Gene=PIK3R3/NM_001303429.1/0;CC=c.764+5809C>T;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.765-149C>T;VC=Intron;Gene=PIK3R3/NM_001303428.1/0;CC=c.816-149C>T;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.765-149C>T;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.903-149C>T;VC=Intron;DM=PIK3R3/PI3K_P85_iSH2;DM=PIK3R3/PI3K_P85_iSH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,G:14:0:0:0:9,5:294,156:29.73,0.00:0.00,0.00:29.73,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.8,20.2:0,0:0,0:113,112:38,39:30,14:NM_003629.3(PIK3R3) c.765-149C>T,-:0.71,-:NOT_FOUND,- 1 46527744 . C . . NT END=46531725;NT GT ./. 1 46531852 . C . . NT END=46532582;NT GT ./. 1 46532764 . C . . NT END=46543186;NT GT ./. 1 46543286 . C . . NT END=46546313;NT GT ./. 1 46546208 rs1768803 T C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5038,C/0.4962;PC=0.053;Gene=PIK3R3/NM_001303429.1/0;CC=c.215+106A>G;VC=Intron;Gene=PIK3R3/NM_003629.3/0;CC=c.215+106A>G;VC=Intron;Gene=PIK3R3/NM_001303428.1/0;CC=c.266+106A>G;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.215+106A>G;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.353+106A>G;VC=Intron;DM=PIK3R3/SH2;DM=PIK3R3/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:11:11:0:0:8,3:251,102:26.09,0.00:26.09,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.5,0.0:0,0:0,0:57,64:93,87:17,9:NM_003629.3(PIK3R3) c.215+106A>G,-:0.51,-:NOT_FOUND,- 1 46546423 . C . . NT END=46597518;NT GT ./. 1 46598269 rs1707304 C A 355 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=246;DB;DBA=NA;PAF=C/0.5026,A/0.4974;PC=0.097;Gene=PIK3R3/NM_001303429.1/0;CC=c.-645G>T;VC=5UTR;Gene=PIK3R3/NM_003629.3/0;CC=c.-645G>T;VC=5UTR;Gene=PIK3R3/NM_001303428.1/0;CC=c.47+102G>T;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.-5+187G>T;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.244+43631G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:246:165:0:0:121,125:3720,4063:355.48,0.00:214.85,0.00:140.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.8,10.5:0,0:0,0:76,71:58,68:35,37:NM_003629.3(PIK3R3) c.-645G>T,-:0.5,-:NOT_FOUND,- 1 46598273 rs1707303 A C 370 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=242;DB;DBA=NA;PAF=A/0.361,C/0.639;PC=0.004;Gene=PIK3R3/NM_001303429.1/0;CC=c.-649T>G;VC=5UTR;Gene=PIK3R3/NM_003629.3/0;CC=c.-649T>G;VC=5UTR;Gene=PIK3R3/NM_001303428.1/0;CC=c.47+98T>G;VC=Intron;Gene=PIK3R3/NM_001114172.1/1;CC=c.-5+183T>G;VC=Intron;Gene=PIK3R3/NM_001303427.1/0;CC=c.244+43627T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:242:162:0:0:123,119:3787,3858:0.00,369.64:0.00,216.46:0.00,153.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,74.5:0,0:0,0:73,79:66,54:36,35:-,NM_003629.3(PIK3R3) c.-649T>G:-,0.68:-,NOT_FOUND 1 46598709 . G . . NT END=46641899;NT GT ./. 1 46598903 rs1355642 A G 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4966,G/0.5034;PC=0.993;Gene=PIK3R3/NM_001303427.1/0;CC=c.244+42997T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:7:0:0:0:4,3:108,91:0.00,8.47:0.00,0.00:0.00,8.47:0.00,0.69:0.00,0.00:0.00,0.69:60,60:55.8,44.0:0,0:0,0:80,141:58,10:15,8:-,NM_003629.3(PIK3R3) c.-756-u523T>C:-,0.52:-,NOT_FOUND 1 46641741 rs11211261 A G 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5897,G/0.4103;PC=0.006;Gene=PIK3R3/NM_001303427.1/0;CC=c.244+159T>C;VC=Intron;Gene=TSPAN1/NM_005727.3/1;CC=c.-142+660A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:10,11:336,305:0.00,29.37:0.00,29.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.1,42.5:0,0:0,0:42,43:108,107:7,34:-,NM_005727.3(TSPAN1) c.-142+660A>G:-,0.44:-,NOT_FOUND 1 46642144 . G . . NT END=46646779;NT GT ./. 1 46646837 . G . . NT END=46649862;NT GT ./. 1 46650070 . G . . NT END=46650265;NT GT ./. 1 46650118 rs2234270 C T 139 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.9279,T/0.07208;PC=0.002;Gene=TSPAN1/NM_005727.3/1;CC=c.264+49C>T;VC=Intron;DM=TSPAN1/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:39:0:0:38,44:1146,1423:0.00,138.68:0.00,57.47:0.00,81.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,40.0:0,0:0,0:102,103:47,46:26,27:-,NM_005727.3(TSPAN1) c.264+49C>T:-,0.07:-,0.116177 1 46650341 . G . . NT END=46650456;NT GT ./. 1 46650556 . G . . NT END=46650631;NT GT ./. 1 46650788 . G . . NT END=46650896;NT GT ./. 1 46650981 . G . . NT END=46651157;NT GT ./. 1 46651206 . G . . NT END=46654390;NT GT ./. 1 46655030 . C . . NT END=46655129;NT GT ./. 1 46655158 rs6659553 T C 36 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.05751,C/0.9425;PC=1.000;Gene=POMGNT1/NM_001290129.1/0;CC=c.1801A>G;ProtCh=p.M601V;VC=Missense;Gene=POMGNT1/NM_001290130.1/0;CC=c.1438A>G;ProtCh=p.M480V;VC=Missense;Gene=POMGNT1/NM_017739.3/0;CC=c.1867A>G;ProtCh=p.M623V;VC=Missense;Gene=POMGNT1/NM_001243766.1/1;CC=c.1867A>G;ProtCh=p.M623V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:3:0:0:10:308:35.52:7.75:27.77:1.00:1.00:1.00:60:42.6:0:0:64:81:42:NM_001243766.1(POMGNT1) c.=,NM_001243766.1(POMGNT1) c.=:0.95,0.95:0.941258,0.941258 1 46655240 . C . . NT END=46655525;NT GT ./. 1 46655662 . C . . NT END=46656144;NT GT ./. 1 46655769 . C CT 13 idl,rn VT=INS;SST=Single;DP=45;NP=1;PC=0.075;Gene=POMGNT1/NM_001290129.1/0;CC=c.1584-109_1584-108insA;VC=Intron;Gene=POMGNT1/NM_001290130.1/0;CC=c.1221-109_1221-108insA;VC=Intron;Gene=POMGNT1/NM_017739.3/0;CC=c.1650-109_1650-108insA;VC=Intron;Gene=POMGNT1/NM_001243766.1/1;CC=c.1650-109_1650-108insA;VC=Intron;DM=POMGNT1/GNT-I;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:C,T,CT,D:39:8:10:8:24,4,6,5:679,106,296,203:0.00,7.44,13.33,10.50:0.00,-0.18,-0.28,0.68:0.00,7.62,13.61,9.82:0.00,0.00,0.86,0.00:0.00,0.00,0.63,0.00:0.00,0.00,0.99,0.00:60,60,60,60:21.2,194.8,58.3,18.6:0,1,4,2:0,0,0,0:132,130,79,61:17,19,69,90:12,1,29,41:-,NM_001243766.1(POMGNT1) c.1650-109_1650-108insA:-,NOT_FOUND:-,NOT_FOUND 1 46655873 rs12116820 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.723,T/0.277;Gene=POMGNT1/NM_001290129.1/0;CC=c.1584-212G>A;VC=Intron;Gene=POMGNT1/NM_001290130.1/0;CC=c.1221-212G>A;VC=Intron;Gene=POMGNT1/NM_017739.3/0;CC=c.1650-212G>A;VC=Intron;Gene=POMGNT1/NM_001243766.1/1;CC=c.1650-212G>A;VC=Intron;DM=POMGNT1/GNT-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:9:0:0:0:6,3:169,96:0.00,8.57:0.00,0.00:0.00,8.57:0.00,0.64:0.00,0.00:0.00,0.64:60,60:40.7,32.0:0,0:0,0:116,92:21,58:7,6:-,NM_001243766.1(POMGNT1) c.1650-212G>A:-,0.26:-,NOT_FOUND 1 46656190 . C . . NT END=46656391;NT GT ./. 1 46656457 . C . . NT END=46657769;NT GT ./. 1 46657555 rs7519275 A C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6665,C/0.3335;PC=0.001;Gene=POMGNT1/NM_001290129.1/0;CC=c.1473+215T>G;VC=Intron;Gene=POMGNT1/NM_001290130.1/0;CC=c.1110+215T>G;VC=Intron;Gene=POMGNT1/NM_017739.3/0;CC=c.1539+215T>G;VC=Intron;Gene=POMGNT1/NM_001243766.1/1;CC=c.1539+215T>G;VC=Intron;DM=POMGNT1/GNT-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C:6:6:0:0:2,4:70,124:0.00,12.65:0.00,12.65:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,60.0:0,0:0,0:81,35:69,115:3,12:-,NM_001243766.1(POMGNT1) c.1539+215T>G:-,0.3:-,NOT_FOUND 1 46657651 rs7521880 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6663,C/0.3337;Gene=POMGNT1/NM_001290129.1/0;CC=c.1473+119A>G;VC=Intron;Gene=POMGNT1/NM_001290130.1/0;CC=c.1110+119A>G;VC=Intron;Gene=POMGNT1/NM_017739.3/0;CC=c.1539+119A>G;VC=Intron;Gene=POMGNT1/NM_001243766.1/1;CC=c.1539+119A>G;VC=Intron;DM=POMGNT1/GNT-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:12:0:0:6,7:200,221:18.97,0.00:19.50,0.00:-0.54,0.00:0.97,0.00:1.00,0.00:0.86,0.00:60,60:51.5,11.4:0,0:0,0:72,27:78,123:49,13:NM_001243766.1(POMGNT1) c.1539+119A>G,-:0.3,-:NOT_FOUND,- 1 46657896 . C . . NT END=46657979;NT GT ./. 1 46658109 . C . . NT END=46658189;NT GT ./. 1 46658263 . C . . NT END=46658571;NT GT ./. 1 46658328 rs2292484 A G 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6665,G/0.3335;Gene=POMGNT1/NM_001290129.1/0;CC=c.1146-66T>C;VC=Intron;Gene=POMGNT1/NM_001290130.1/0;CC=c.783-66T>C;VC=Intron;Gene=POMGNT1/NM_017739.3/0;CC=c.1212-66T>C;VC=Intron;Gene=POMGNT1/NM_001243766.1/1;CC=c.1212-66T>C;VC=Intron;DM=POMGNT1/GNT-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G:6:4:0:0:3,3:98,79:0.00,7.50:0.00,4.22:0.00,3.28:0.00,0.73:0.00,0.51:0.00,0.79:60,60:2.7,87.0:0,0:0,0:36,35:115,116:30,10:-,NM_001243766.1(POMGNT1) c.1212-66T>C:-,0.3:-,0.353263 1 46658631 . C . . NT END=46658845;NT GT ./. 1 46658888 . C . . NT END=46658976;NT GT ./. 1 46659061 . C . . NT END=46659235;NT GT ./. 1 46659104 rs7527668 T C 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.633,C/0.367;Gene=POMGNT1/NM_001290129.1/0;CC=c.961-44A>G;VC=Intron;Gene=POMGNT1/NM_001290130.1/0;CC=c.598-44A>G;VC=Intron;Gene=POMGNT1/NM_017739.3/0;CC=c.1027-44A>G;VC=Intron;Gene=POMGNT1/NM_001243766.1/1;CC=c.1027-44A>G;VC=Intron;DM=POMGNT1/GNT-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:18:0:0:13,20:425,651:39.09,0.00:14.57,0.00:24.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.2,15.2:0,0:0,0:76,123:75,28:40,18:NM_001243766.1(POMGNT1) c.1027-44A>G,-:0.32,-:0.380517,- 1 46659312 . C . . NT END=46659526;NT GT ./. 1 46659363 rs7527935 T C 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6665,C/0.3335;Gene=POMGNT1/NM_001290129.1/0;CC=c.885-52A>G;VC=Intron;Gene=POMGNT1/NM_001290130.1/0;CC=c.522-52A>G;VC=Intron;Gene=POMGNT1/NM_017739.3/0;CC=c.951-52A>G;VC=Intron;Gene=POMGNT1/NM_001243766.1/1;CC=c.951-52A>G;VC=Intron;DM=POMGNT1/GNT-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,T:13:5:0:0:7,6:246,175:24.07,0.00:8.84,0.00:15.23,0.00:0.99,0.00:0.98,0.00:1.00,0.00:60,60:35.1,17.2:0,0:0,0:49,102:101,49:31,22:NM_001243766.1(POMGNT1) c.951-52A>G,-:0.3,-:0.353548,- 1 46659598 . C . . NT END=46659945;NT GT ./. 1 46660074 . C . . NT END=46660224;NT GT ./. 1 46660295 rs2292487 T C 15 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=in-clinvar;PAF=T/0.6665,C/0.3335;PC=0.998;Gene=POMGNT1/NM_001290129.1/0;CC=c.615A>G;ProtCh=p.K205=;VC=Silent;Gene=POMGNT1/NM_001290130.1/0;CC=c.252A>G;ProtCh=p.K84=;VC=Silent;Gene=POMGNT1/NM_017739.3/0;CC=c.681A>G;ProtCh=p.K227=;VC=Silent;Gene=POMGNT1/NM_001243766.1/1;CC=c.681A>G;ProtCh=p.K227=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,G,T:17:10:0:0:7,1,9:160,12,289:14.52,0.32,0.00:6.20,0.46,0.00:8.32,-0.15,0.00:0.98,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:60,60,60:57.3,212.0,17.7:0,0,0:0,0,0:98,134,75:53,17,69:19,0,20:NM_001243766.1(POMGNT1) c.681A>G (p.(=)),-:0.3,-:0.349685,- 1 46660324 . C . . NT END=46660515;NT GT ./. 1 46660634 . C . . NT END=46661482;NT GT ./. 1 46661597 . C . . NT END=46661683;NT GT ./. 1 46661750 . C . . NT END=46662402;NT GT ./. 1 46662522 . C . . NT END=46662641;NT GT ./. 1 46662757 . C . . NT END=46662979;NT GT ./. 1 46663217 . A . . NT END=46663373;NT GT ./. 1 46663494 . A . . NT END=46669098;NT GT ./. 1 46668592 . GGT G 6 rn VT=DEL;SST=Single;DP=4;PC=0.003;Gene=POMGNT1/NM_001243766.1/1;CC=c.-50-5051_-50-5050delAC;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:GGT,G:4:2:0:2:2,2:42,67:0.00,6.46:0.00,1.59:0.00,4.87:0.00,0.51:0.00,0.79:0.00,0.51:60,60:55.5,11.5:1,0:0,0:31,54:75,94:5,37:-,NM_001243766.1(POMGNT1) c.-50-5051_-50-5050delAC:-,NOT_FOUND:-,NOT_FOUND 1 46669276 rs62620991 A C 230 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=A/0.989,C/0.01098,G/.;PC=0.875;Gene=POMGNT1/NM_001243766.1/1;CC=c.-50-5733T>G;VC=Intron;Gene=LURAP1/NM_001013615.2/1;CC=c.178A>C;ProtCh=p.M60L;VC=Missense;DM=LURAP1/LURAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:137:78:0:0:66,71:2147,2370:0.00,229.67:0.00,80.40:0.00,149.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,38.0:0,0:0,0:96,92:51,54:27,29:-,NM_001013615.2(LURAP1) c.178A>C (p.Met60Leu):-,0.02:-,0.025065 1 46669297 . G . . NT END=46685370;NT GT ./. 1 46677112 rs35893165 C CACACAT 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=118;PC=0.068;Gene=POMGNT1/NM_001243766.1/1;CC=c.-51+8264_-51+8265insATGTGT;VC=Intron;Gene=LURAP1/NM_001013615.2/1;CC=c.198+7821_198+7822insTACACA;VC=Intron;DM=LURAP1/LURAP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CACACAT:5:4:3:0:2,3:66,99:0.00,9.87:0.00,6.91:0.00,2.96:0.00,0.78:0.00,0.97:0.00,0.97:60,70:52.5,14.3:2,0:0,0:58,120:93,31:31,3:-,NM_001013615.2(LURAP1) c.198+7816_198+7817insACACAT:-,0.84:-,NOT_FOUND 1 46685893 . C . . NT END=46714077;NT GT ./. 1 46714081 . G . . NT END=46714183;NT GT ./. 1 46714271 . G . . NT END=46715671;NT GT ./. 1 46715792 . G . . NT END=46724357;NT GT ./. 1 46724419 . G . . NT END=46725635;NT GT ./. 1 46725447 rs368127843 CA C 12 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=21;PC=0.043;Gene=RAD54L/NM_001142548.1/1;CC=c.272-175delA;VC=Intron;Gene=RAD54L/NM_003579.3/0;CC=c.272-175delA;VC=Intron;DM=RAD54L/Helicase_C;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:CA,I,C:16:18:2:6:10,2,4:334,63,193:0.00,4.84,11.50:0.00,4.84,11.50:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:24.3,5.0,6.8:0,0,2:0,0,0:32,83,18:118,68,132:11,33,10:-,NM_001142548.1(RAD54L) c.272-188delA:-,NOT_FOUND:-,NOT_FOUND 1 46725772 . G . . NT END=46726213;NT GT ./. 1 46725941 rs2295464 G A 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8045,A/0.1955;PC=0.008;Gene=RAD54L/NM_001142548.1/1;CC=c.407+170G>A;VC=Intron;Gene=RAD54L/NM_003579.3/0;CC=c.407+170G>A;VC=Intron;DM=RAD54L/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:6,9:201,288:18.58,0.00:0.00,0.00:18.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.3,10.2:0,0:0,0:90,128:60,22:7,17:NM_001142548.1(RAD54L) c.407+170G>A,-:0.15,-:NOT_FOUND,- 1 46726057 rs2295465 A C 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8043,C/0.1957;Gene=RAD54L/NM_001142548.1/1;CC=c.408-157A>C;VC=Intron;Gene=RAD54L/NM_003579.3/0;CC=c.408-157A>C;VC=Intron;DM=RAD54L/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,C:13:7:0:0:5,8:145,256:0.00,25.66:0.00,17.01:0.00,8.65:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.0,48.1:0,0:0,0:72,23:79,127:54,16:-,NM_001142548.1(RAD54L) c.408-157A>C:-,0.15:-,NOT_FOUND 1 46726284 . G . . NT END=46726398;NT GT ./. 1 46726688 . G . . NT END=46726932;NT GT ./. 1 46727058 . G . . NT END=46733130;NT GT ./. 1 46733282 . G . . NT END=46736330;NT GT ./. 1 46736458 . G . . NT END=46738137;NT GT ./. 1 46738213 . G . . NT END=46738343;NT GT ./. 1 46738475 . G . . NT END=46739026;NT GT ./. 1 46739138 . G . . NT END=46739295;NT GT ./. 1 46739420 . G . . NT END=46739809;NT GT ./. 1 46739889 . G . . NT END=46740209;NT GT ./. 1 46740390 . G . . NT END=46743488;NT GT ./. 1 46743653 . G . . NT END=46743743;NT GT ./. 1 46743955 . T . . NT END=46744536;NT GT ./. 1 46744757 . C . . NT END=46744853;NT GT ./. 1 46744930 . C . . NT END=46745163;NT GT ./. 1 46745287 . C . . NT END=46745863;NT GT ./. 1 46745963 . C . . NT END=46746067;NT GT ./. 1 46746233 . C . . NT END=46746796;NT GT ./. 1 46747058 . C . . NT END=46751033;NT GT ./. 1 46747301 rs12142240 T C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.873,C/0.127;Gene=LRRC41/NM_006369.4/1;CC=c.1496-244A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:7:0:0:0:3,4:99,109:9.26,0.00:0.00,0.00:9.26,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:38.3,0.0:0,0:0,0:124,129:26,21:25,5:NM_006369.4(LRRC41) c.1496-244A>G,-:0.16,-:NOT_FOUND,- 1 46752172 . C . . NT END=46763234;NT GT ./. 1 46763306 . C . . NT END=46763955;NT GT ./. 1 46764043 . C . . NT END=46767652;NT GT ./. 1 46768377 . A . . NT END=46768434;NT GT ./. 1 46768408 rs1547180 T C 751 nt VT=SNV;PN=C;NN=A;SST=Single;DP=205;DB;DBA=NA;PAF=T/0.2694,C/0.7306;PC=0.002;Gene=LRRC41/NM_006369.4/1;CC=c.199+388A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:205:140:0:0:1,203,1:14,6574,21:0.13,751.22,0.00:0.13,385.95,0.00:0.00,365.27,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:137.0,46.1,168.0:0,0,0:0,0,0:147,73,63:2,75,84:0,37,0:NM_006369.4(LRRC41) c.199+388A>G,NM_006369.4(LRRC41) c.199+388A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 46768710 . g . . NT END=46768795;NT GT ./. 1 46768995 . C . . NT END=46769438;NT GT ./. 1 46769493 . G . . NT END=46774772;NT GT ./. 1 46774800 . G . . NT END=46775568;NT GT ./. 1 46775717 . G . . NT END=46775826;NT GT ./. 1 46775989 . G . . NT END=46782223;NT GT ./. 1 46782257 . A . . NT END=46806498;NT GT ./. 1 46806592 . G . . NT END=46806849;NT GT ./. 1 46806959 rs11579255 C T 97 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.6947,T/0.3053;Gene=NSUN4/NM_199044.3/0;CC=c.93+368C>T;VC=Intron;Gene=NSUN4/NR_045789.1/0;VC=NonCoding;Gene=NSUN4/NR_045790.1/0;VC=NonCoding;Gene=NSUN4/NR_045791.1/0;VC=NonCoding;Gene=NSUN4/NM_001256127.1/1;CC=c.-633C>T;VC=5UTR;Gene=NSUN4/NM_001256128.1/0;CC=c.-265C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:22:0:0:24,33:730,978:0.00,96.63:0.00,30.01:0.00,66.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.2,45.8:0,0:0,0:46,55:94,96:21,38:-,NM_199044.3(NSUN4) c.93+368C>T:-,0.35:-,NOT_FOUND 1 46807538 . G . . NT END=46810472;NT GT ./. 1 46810530 rs3737744 A G 132 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.6955,G/0.3045;PC=1.000;Gene=NSUN4/NM_199044.3/0;CC=c.151A>G;ProtCh=p.T51A;VC=Missense;Gene=NSUN4/NR_045789.1/0;VC=NonCoding;Gene=NSUN4/NR_045790.1/0;VC=NonCoding;Gene=NSUN4/NR_045791.1/0;VC=NonCoding;Gene=NSUN4/NM_001256127.1/1;CC=c.4A>G;ProtCh=p.T2A;VC=Missense;Gene=NSUN4/NM_001256128.1/0;CC=c.4A>G;ProtCh=p.T2A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:66:0:0:53,44:1617,1397:0.00,131.62:0.00,69.08:0.00,62.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,33.9:0,0:0,0:77,72:73,77:41,29:-,NM_199044.3(NSUN4) c.151A>G (p.Thr51Ala):-,0.35:-,0.28064 1 46810817 . G . . NT END=46812592;NT GT ./. 1 46812748 . G . . NT END=46818539;NT GT ./. 1 46818502 rs41294480 A G 146 nt VT=SNV;PN=C;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.9519,G/0.04812;Gene=NSUN4/NM_199044.3/0;CC=c.593-38A>G;VC=Intron;Gene=NSUN4/NR_045789.1/0;VC=NonCoding;Gene=NSUN4/NR_045790.1/0;VC=NonCoding;Gene=NSUN4/NR_045791.1/0;VC=NonCoding;Gene=NSUN4/NM_001256127.1/1;CC=c.446-38A>G;VC=Intron;Gene=NSUN4/NM_001256128.1/0;CC=c.446-38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:73:0:0:36,47:1142,1485:0.00,146.20:0.00,101.44:0.00,44.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,35.2:0,0:0,0:26,56:113,95:23,23:-,NM_199044.3(NSUN4) c.593-38A>G:-,0.04:-,0.043826 1 46818701 . G . . NT END=46826375;NT GT ./. 1 46826501 . G . . NT END=46827241;NT GT ./. 1 46827214 rs324414 A C 263 nt VT=SNV;PN=T;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.003395,C/0.9966;NP=3466;PC=0.165;Gene=NSUN4/NM_199044.3/0;CC=c.879-28A>C;VC=Intron;Gene=NSUN4/NR_045789.1/0;VC=NonCoding;Gene=NSUN4/NR_045790.1/0;VC=NonCoding;Gene=NSUN4/NR_045791.1/0;VC=NonCoding;Gene=NSUN4/NM_001256127.1/1;CC=c.732-28A>C;VC=Intron;Gene=NSUN4/NM_001256128.1/0;CC=c.732-28A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:171:A,C:74:69:0:0:2,72:34,2324:0.00,263.21:0.00,216.42:0.00,46.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.0,44.8:0,0:0,0:68,58:83,88:3,35:NM_199044.3(NSUN4) c.879-28A>C,NM_199044.3(NSUN4) c.879-28A>C:0.99,0.99:0.985084,0.985084 1 46827456 rs9865 A G 141 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.7963,G/0.2037;PC=0.991;Gene=NSUN4/NM_199044.3/0;CC=c.1093A>G;ProtCh=p.I365V;VC=Missense;Gene=NSUN4/NR_045789.1/0;VC=NonCoding;Gene=NSUN4/NR_045790.1/0;VC=NonCoding;Gene=NSUN4/NR_045791.1/0;VC=NonCoding;Gene=NSUN4/NM_001256127.1/1;CC=c.946A>G;ProtCh=p.I316V;VC=Missense;Gene=NSUN4/NM_001256128.1/0;CC=c.946A>G;ProtCh=p.I316V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:55:0:0:54,44:1735,1497:0.00,141.42:0.00,57.74:0.00,83.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,39.8:0,0:0,0:85,100:62,50:33,29:-,NM_199044.3(NSUN4) c.1093A>G (p.Ile365Val):-,0.16:-,0.110795 1 46827519 . T . . NT END=46860020;NT GT ./. 1 46860216 . G . . NT END=46867762;NT GT ./. 1 46867877 . G . . NT END=46870685;NT GT ./. 1 46870821 . G . . NT END=46871043;NT GT ./. 1 46871178 . G . . NT END=46871259;NT GT ./. 1 46871467 . G . . NT END=46871542;NT GT ./. 1 46871625 . G . . NT END=46871709;NT GT ./. 1 46871751 . G . . NT END=46871915;NT GT ./. 1 46871875 rs41309147 G A 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.9391,A/0.0609;Gene=FAAH/NM_001441.2/1;CC=c.827-41G>A;VC=Intron;DM=FAAH/Amidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:93:57:0:0:36,56,1:964,1748,12:86.70,0.00,-0.10:52.43,0.00,-0.14:34.27,0.00,0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.8,23.4,34.0:0,0,0:0,0,0:52,60,15:98,86,134:32,31,0:NM_001441.2(FAAH) c.827-41G>A,-:0.05,-:0.077964,- 1 46871986 rs324419 T C 159 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.1156,C/0.8844;PC=0.910;Gene=FAAH/NM_001441.2/1;CC=c.897T>C;ProtCh=p.C299=;VC=Silent;DM=FAAH/Amidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:124:80:0:0:52,1,71:1704,9,2271:158.83,-0.18,0.00:73.60,-0.05,0.00:85.23,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,92.0,15.4:0,0,0:0,0,0:91,97,67:60,54,84:33,0,42:NM_001441.2(FAAH) c.=,-:0.91,-:0.841765,- 1 46872041 . G . . NT END=46874130;NT GT ./. 1 46874257 . G . . NT END=46874772;NT GT ./. 1 46874383 rs2295633 A G 70 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.395,G/0.605;PC=0.002;Gene=FAAH/NM_001441.2/1;CC=c.1077+127A>G;VC=Intron;DM=FAAH/Amidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:3:0:0:15,21:453,706:0.00,70.01:0.00,5.41:0.00,64.59:0.00,1.00:0.00,0.93:0.00,1.00:60,60:0.8,36.6:0,0:0,0:84,118:65,32:19,23:-,NM_001441.2(FAAH) c.1077+127A>G:-,0.65:-,NOT_FOUND 1 46874871 . G . . NT END=46876069;NT GT ./. 1 46875067 rs11576941 G T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7095,T/0.2905;PC=0.001;Gene=FAAH/NM_001441.2/1;CC=c.1175+197G>T;VC=Intron;DM=FAAH/Amidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,T:4:0:0:0:2,2:64,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,35.0:0,0:0,0:138,79:12,72:7,30:-,NM_001441.2(FAAH) c.1175+197G>T:-,0.34:-,NOT_FOUND 1 46876170 . G . . NT END=46876485;NT GT ./. 1 46876527 . G . . NT END=46877283;NT GT ./. 1 46877324 . G . . NT END=46877814;NT GT ./. 1 46877810 rs78529632 C T 115 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.9393,T/0.0607;Gene=FAAH/NM_001441.2/1;CC=c.1357-5C>T;VC=Intron;DM=FAAH/Amidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:66:0:0:43,36:1307,1209:0.00,114.50:0.00,84.49:0.00,30.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,43.5:0,0:0,0:47,41:101,97:30,23:-,NM_001441.2(FAAH) c.1357-5C>T:-,0.05:-,0.074721 1 46877924 . G . . NT END=46878746;NT GT ./. 1 46878893 . G . . NT END=46879118;NT GT ./. 1 46879248 . T . . NT END=46972682;NT GT ./. 1 46879562 rs2295632 T G 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4848,G/0.5152 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:169:19.28:0.00:19.28:1.00:0.00:1.00:60:71.6:0:0:134:17:5:chr1 g.46879561T>G (intergenic),chr1 g.46879561T>G (intergenic):0.57,0.57:NOT_FOUND,NOT_FOUND 1 46972837 . G . . NT END=46976131;NT GT ./. 1 46976327 . G . . NT END=46976606;NT GT ./. 1 46976837 rs1886116 C T 362 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=222;DB;DBA=NA;PAF=C/0.8233,T/0.1767;Gene=DMBX1/NM_147192.2/0;CC=c.579C>T;ProtCh=p.P193=;VC=Silent;Gene=DMBX1/NM_172225.1/1;CC=c.564C>T;ProtCh=p.P188=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:222:151:0:0:105,117:3117,3734:0.00,362.49:0.00,178.64:0.00,183.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,38.2:0,0:0,0:73,78:74,70:35,35:-,NM_147192.2(DMBX1) c.579C>T (p.(=)):-,0.21:-,0.320434 1 46976956 . G . . NT END=46977714;NT GT ./. 1 46978167 . C . . NT END=47013401;NT GT ./. 1 47013180 rs10890404 A G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4902,G/0.5098;Gene=MKNK1-AS1/NR_038403.1/0;VC=NonCoding;Gene=KNCN/NM_001097611.1/1;CC=c.*222T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:7:0:0:7:177:20.92:20.92:0.00:1.00:1.00:0.00:60:41.7:0:0:79:71:15:NM_001097611.1(KNCN) c.*222T>C,NM_001097611.1(KNCN) c.*222T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 47013364 rs1258041 T C 119 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.09065,C/0.9093;Gene=MKNK1-AS1/NR_038403.1/0;VC=NonCoding;Gene=KNCN/NM_001097611.1/1;CC=c.*38A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:29:0:0:33:1030:118.56:77.71:40.85:1.00:1.00:1.00:60:38.7:0:0:55:92:30:NM_001097611.1(KNCN) c.*38A>G,NM_001097611.1(KNCN) c.*38A>G:0.92,0.92:0.992201,0.992201 1 47013482 . C . . NT END=47014864;NT GT ./. 1 47014821 rs72679863 A AAAAAG 96 idl,nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.3506,AAAAAAAG/.,AAAAAAG/0.0609,AAAAAG/0.5589,AAAAG/0.02955,AAAG/.;DB;DBA=NA;PAF=NA;NP=2;NP=5;NP=5;NP=686;Gene=MKNK1-AS1/NR_038403.1/0;VC=NonCoding;Gene=KNCN/NM_001097611.1/1;CC=c.226+43_226+44insCTTTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:A,AAAAAG:28:30:33:0:1,27:32,1059:0.00,96.08:0.00,74.61:0.00,21.47:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,19.6:0,6:0,0:139,33:4,109:0,21:NM_001097611.1(KNCN) c.226+43_226+44insCTTTT,NM_001097611.1(KNCN) c.226+43_226+44insCTTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47014940 . C . . NT END=47016736;NT GT ./. 1 47016888 . G . . NT END=47024246;NT GT ./. 1 47024473 . C . . NT END=47025905;NT GT ./. 1 47025950 . C . . NT END=47027149;NT GT ./. 1 47027315 . C . . NT END=47028320;NT GT ./. 1 47028516 . C . . NT END=47030712;NT GT ./. 1 47030809 . C . . NT END=47034114;NT GT ./. 1 47034171 . C . . NT END=47037734;NT GT ./. 1 47037840 . C . . NT END=47040618;NT GT ./. 1 47040693 . C . . NT END=47042246;NT GT ./. 1 47042327 . C . . NT END=47046201;NT GT ./. 1 47046300 . C . . NT END=47048899;NT GT ./. 1 47046465 rs60914701 AC A 13 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AC/0.761,A/0.239;NP=279;Gene=MKNK1/NM_001135553.2/0;CC=c.137-167delG;VC=Intron;Gene=MKNK1/NM_003684.5/1;CC=c.137-167delG;VC=Intron;Gene=MKNK1/NM_198973.3/0;CC=c.137-167delG;VC=Intron;Gene=MKNK1/NR_024174.2/0;VC=NonCoding;Gene=MKNK1/NR_024176.2/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:AC,A:8:0:0:4:4,4:130,136:0.00,13.10:0.00,0.00:0.00,13.10:0.00,0.87:0.00,0.00:0.00,0.87:60,60:0.0,0.0:0,0:0,0:80,112:70,38:31,4:-,NM_003684.5(MKNK1) c.137-167delG:-,0.25:-,NOT_FOUND 1 47049002 . C . . NT END=47051545;NT GT ./. 1 47051647 . C . . NT END=47059784;NT GT ./. 1 47059819 . C . . NT END=47075326;NT GT ./. 1 47059934 rs1258021 T C 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.003395,T/0.9966;NP=3307;Gene=MKNK1/NM_001135553.2/0;CC=c.-116A>G;VC=5UTR;Gene=MKNK1/NM_003684.5/1;CC=c.-116A>G;VC=5UTR;Gene=MKNK1/NM_198973.3/0;CC=c.-116A>G;VC=5UTR;Gene=MKNK1/NR_024174.2/0;VC=NonCoding;Gene=MKNK1/NR_024176.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:3:0:0:18:523:60.74:5.97:54.78:1.00:1.00:1.00:60:39.4:0:0:128:22:7:NM_003684.5(MKNK1) c.=,NM_003684.5(MKNK1) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 1 47075357 . C . . NT END=47075673;NT GT ./. 1 47075877 . C . . NT END=47078575;NT GT ./. 1 47075932 rs3818323 C T 169 nt VT=SNV;PN=T;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.7117,T/0.2883;Gene=MOB3C/NM_145279.4/0;CC=c.575-56G>A;VC=Intron;Gene=MOB3C/NM_201403.2/1;CC=c.419-56G>A;VC=Intron;DM=MOB3C/Mob1_phocein;DM=MOB3C/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:30:0:0:47,55:1553,1732:0.00,168.87:0.00,35.94:0.00,132.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,38.1:0,0:0,0:116,108:35,43:19,27:-,NM_201403.2(MOB3C) c.419-56G>A:-,0.29:-,NOT_FOUND 1 47078637 rs4660947 T C 643 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=412;DB;DBA=NA;PAF=T/0.3269,C/0.6731;Gene=MOB3C/NM_145279.4/0;CC=c.513A>G;ProtCh=p.A171=;VC=Silent;Gene=MOB3C/NM_201403.2/1;CC=c.357A>G;ProtCh=p.A119=;VC=Silent;DM=MOB3C/Mob1_phocein;DM=MOB3C/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:412:340:0:0:208,2,202:6671,22,6584:642.63,-0.30,0.00:426.34,-0.12,0.00:216.29,-0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.3,87.5,6.7:0,0,0:0,0,0:58,73,54:86,77,86:30,31,31:NM_201403.2(MOB3C) c.357A>G (p.(=)),-:0.64,-:0.511386,- 1 47079044 . C . . NT END=47080642;NT GT ./. 1 47080665 rs11211328 C T 132 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=C/0.7454,T/0.2546;PC=0.002;Gene=MOB3C/NM_145279.4/0;CC=c.84G>A;ProtCh=p.M28I;VC=Missense;Gene=MOB3C/NM_201403.2/1;CC=c.-50-1622G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:143:118:0:0:98,45:3200,1490:0.00,131.78:0.00,76.73:0.00,55.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,82.0:0,0:0,0:46,57:98,81:24,28:-,NM_201403.2(MOB3C) c.-50-1622G>A:-,0.27:-,0.249116 1 47080679 rs6671527 G A 139 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=G/0.3578,A/0.6422,C/.;Gene=MOB3C/NM_145279.4/0;CC=c.70C>T;ProtCh=p.R24*;VC=Nonsense;Gene=MOB3C/NM_201403.2/1;CC=c.-50-1636C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:146:112:0:0:47,99:1563,3071:138.94,0.00:71.40,0.00:67.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.2,9.2:0,0:0,0:62,51:83,92:23,22:NM_201403.2(MOB3C) c.-50-1636C>T,-:0.62,-:0.49877,- 1 47080741 rs12029680 C T 121 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.6657,T/0.3343;Gene=MOB3C/NM_145279.4/0;CC=c.8G>A;ProtCh=p.R3H;VC=Missense;Gene=MOB3C/NM_201403.2/1;CC=c.-51+1642G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:126:78:0:0:85,41:2753,1364:0.00,121.46:0.00,42.83:0.00,78.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,85.2:0,0:0,0:99,99:41,46:20,29:-,NM_201403.2(MOB3C) c.-51+1642G>A:-,0.33:-,0.332078 1 47080749 . T . . NT END=47101447;NT GT ./. 1 47080983 rs35494693 G A 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.757,A/0.243;PC=0.002;Gene=MOB3C/NM_201403.2/1;CC=c.-51+1400C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:15:0:0:0:12,3:321,104:34.48,0.00:0.00,0.00:34.48,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.6,7.3:0,0:0,0:124,128:26,23:20,12:NM_201403.2(MOB3C) c.-51+1400C>T,-:0.3,-:NOT_FOUND,- 1 47101643 . C . . NT END=47108865;NT GT ./. 1 47108828 rs736188 T C 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2484,C/0.7516,G/.;Gene=ATPAF1/NM_001243728.1/0;CC=c.528+38A>G;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.339+38A>G;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.658-7186A>G;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.861+38A>G;VC=Intron;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:18:0:0:18:593:67.88:60.18:7.70:1.00:1.00:1.00:60:35.7:0:0:60:90:34:NM_022745.4(ATPAF1) c.861+38A>G,NM_022745.4(ATPAF1) c.861+38A>G:0.77,0.77:0.865021,0.865021 1 47108974 . C . . NT END=47110832;NT GT ./. 1 47109089 rs1745377 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5389,G/0.4611;PC=0.992;Gene=ATPAF1/NM_001243728.1/0;CC=c.421-116T>C;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.232-116T>C;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.658-7447T>C;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.754-116T>C;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G:12:0:0:0:7,5:246,161:0.00,14.95:0.00,0.00:0.00,14.95:0.00,0.92:0.00,0.00:0.00,0.92:60,60:3.4,34.8:0,0:0,0:95,38:55,112:33,11:-,NM_022745.4(ATPAF1) c.754-116T>C:-,0.46:-,NOT_FOUND 1 47110668 rs1258054 G C 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5389,C/0.4611;PC=0.022;Gene=ATPAF1/NM_001243728.1/0;CC=c.420+165C>G;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.231+165C>G;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.657+7585C>G;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.753+165C>G;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,G:6:6:0:0:3,3:105,92:10.13,0.00:10.13,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:68.0,0.0:0,0:0,0:75,43:76,108:8,41:NM_022745.4(ATPAF1) c.753+165C>G,-:0.46,-:NOT_FOUND,- 1 47110712 rs1258053 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5391,T/0.4609;Gene=ATPAF1/NM_001243728.1/0;CC=c.420+121G>A;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.231+121G>A;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.657+7541G>A;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.753+121G>A;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:12:12:0:0:6,6:206,193:0.00,18.55:0.00,18.55:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,52.2:0,0:0,0:37,43:113,107:27,30:-,NM_022745.4(ATPAF1) c.753+121G>A:-,0.46:-,NOT_FOUND 1 47110766 rs397809302 G GC 57 sb,nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2492,GC/0.7508;DB;DBA=NA;PAF=G/0.2492,GC/0.7508;NP=3398;PC=0.033;Gene=ATPAF1/NM_001243728.1/0;CC=c.420+66dupG;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.231+66dupG;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.657+7486dupG;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.753+66dupG;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:GC:16:16:16:0:16:496:57.23:55.29:1.94:1.00:1.00:1.00:60:18.0:0:0:57:93:25:NM_022745.4(ATPAF1) c.753+66_753+67insG,NM_022745.4(ATPAF1) c.753+66_753+67insG:0.77,0.77:NOT_FOUND,NOT_FOUND 1 47110929 . C . . NT END=47118252;NT GT ./. 1 47118067 rs620913 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4611,A/0.5389;PC=0.001;Gene=ATPAF1/NM_001243728.1/0;CC=c.324+186C>T;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.135+186C>T;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.657+186C>T;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.657+186C>T;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:4:0:0:3,1:104,32:10.85,0.00:10.85,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:73.3,0.0:0,0:0,0:73,32:77,119:6,0:NM_022745.4(ATPAF1) c.657+186C>T,-:0.54,-:NOT_FOUND,- 1 47118096 rs2289446 C A 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7113,A/0.2887;PC=0.009;Gene=ATPAF1/NM_001243728.1/0;CC=c.324+157G>T;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.135+157G>T;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.657+157G>T;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.657+157G>T;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,C:9:9:0:0:5,4:146,141:14.28,0.00:14.28,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:83.6,0.0:0,0:0,0:51,25:100,125:43,2:NM_022745.4(ATPAF1) c.657+157G>T,-:0.31,-:NOT_FOUND,- 1 47118168 rs2289447 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8105,T/0.1895;Gene=ATPAF1/NM_001243728.1/0;CC=c.324+85G>A;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.135+85G>A;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.657+85G>A;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.657+85G>A;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:16:0:0:9,8:311,259:0.00,24.61:0.00,21.81:0.00,2.80:0.00,0.99:0.00,1.00:0.00,0.95:60,60:1.4,72.1:0,0:0,0:54,53:97,98:38,29:-,NM_022745.4(ATPAF1) c.657+85G>A:-,0.22:-,NOT_FOUND 1 47118189 rs620431 G T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4611,T/0.5389;Gene=ATPAF1/NM_001243728.1/0;CC=c.324+64C>A;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.135+64C>A;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.657+64C>A;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.657+64C>A;VC=Intron;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11;DM=ATPAF1/ATP11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:19:0:0:12,9:390,288:0.00,26.87:0.00,21.30:0.00,5.57:0.00,1.00:0.00,1.00:0.00,0.99:60,60:17.2,60.6:0,0:0,0:56,34:92,117:30,20:-,NM_022745.4(ATPAF1) c.657+64C>A:-,0.54:-,0.361805 1 47118301 . C . . NT END=47119488;NT GT ./. 1 47119540 . C . . NT END=47123798;NT GT ./. 1 47123862 . C . . NT END=47124358;NT GT ./. 1 47123898 rs71697665 T GA 8 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=6;PC=0.014;Gene=ATPAF1/NM_001243728.1/0;CC=c.163-38_163-37insT;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.-27-38_-27-37insT;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.496-38_496-37insT;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.496-38_496-37insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:T,GA,D:23:11:4:4:16,4,3:416,103,125:0.00,7.85,7.80:0.00,1.71,7.00:0.00,6.14,0.81:0.00,0.68,0.00:0.00,0.81,0.00:0.00,0.92,0.00:60,70,60:23.9,36.2,36.7:0,0,1:0,0,0:108,91,95:32,59,50:17,30,11:-,NM_022745.4(ATPAF1) c.496-37delAinsTC:-,NOT_FOUND:-,NOT_FOUND 1 47124204 rs397749656 C CA 19 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4615,CA/0.5385;DB;DBA=NA;PAF=C/0.4615,CA/0.5385;DB;DBA=NA;PAF=C/0.4615,CA/0.5385;NP=751;PC=0.006;Gene=ATPAF1/NM_001243728.1/0;CC=c.162+154dupT;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.-28+154dupT;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.495+154dupT;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.495+154dupT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,CA:10:8:6:0:4,6:138,193:0.00,19.24:0.00,12.13:0.00,7.11:0.00,0.99:0.00,1.00:0.00,0.87:60,60:0.0,7.0:0,0:0,0:93,32:57,118:14,14:-,NM_022745.4(ATPAF1) c.495+154_495+155insT:-,0.54:-,NOT_FOUND 1 47124410 . C . . NT END=47129504;NT GT ./. 1 47124479 rs611468 A G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4613,G/0.5387;Gene=ATPAF1/NM_001243728.1/0;CC=c.112-70T>C;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.-78-70T>C;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.445-70T>C;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.445-70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:6:0:0:7,7:215,235:0.00,22.63:0.00,9.04:0.00,13.59:0.00,1.00:0.00,0.73:0.00,1.00:60,60:9.3,42.7:0,0:0,0:122,134:29,16:24,9:-,NM_022745.4(ATPAF1) c.445-70T>C:-,0.54:-,0.367499 1 47129596 . C . . NT END=47130927;NT GT ./. 1 47130873 rs594118 A G 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.4529,G/0.5471;Gene=ATPAF1/NM_001243728.1/0;CC=c.111+55T>C;VC=Intron;Gene=ATPAF1/NM_001256418.1/1;CC=c.-170+55T>C;VC=Intron;Gene=ATPAF1/NM_001042546.2/0;CC=c.444+55T>C;VC=Intron;Gene=ATPAF1/NM_022745.4/0;CC=c.444+55T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:41:0:0:28,15:848,505:0.00,45.58:0.00,42.57:0.00,3.01:0.00,1.00:0.00,1.00:0.00,0.91:60,60:5.5,37.4:0,0:0,0:28,33:119,114:12,28:-,NM_022745.4(ATPAF1) c.444+55T>C:-,0.55:-,NOT_FOUND 1 47131037 . C . . NT END=47131318;NT GT ./. 1 47131551 . C . . NT END=47133728;NT GT ./. 1 47133811 rs11211337 T C 379 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.1653,C/0.8347;Gene=ATPAF1/NM_001042546.2/0;CC=c.253A>G;ProtCh=p.S85G;VC=Missense;Gene=ATPAF1/NM_022745.4/0;CC=c.253A>G;ProtCh=p.S85G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:109:86:0:0:1,107,1:12,3289,14:0.14,378.82,0.22:0.14,219.85,0.22:0.00,158.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:210.0,43.7,77.0:0,0,0:0,0,0:124,65,82:24,75,66:0,37,0:NM_022745.4(ATPAF1) c.253A>G (p.Ser85Gly),NM_022745.4(ATPAF1) c.253A>G (p.Ser85Gly):0.85,0.85:NOT_FOUND,NOT_FOUND 1 47134064 . C . . NT END=47137606;NT GT ./. 1 47134321 rs12094663 T G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4605,G/0.5395;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:4:0:0:0:3,1:82,33:8.65,0.00:0.00,0.00:8.65,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:40.7,8.0:0,0:0,0:125,137:23,14:19,0:NM_001145474.2(TEX38) c.-110-u3176T>G,-:0.54,-:NOT_FOUND,- 1 47137644 . G . . NT END=47138544;NT GT ./. 1 47138444 rs616249 C T 92 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.0009984,T/0.999;Gene=TEX38/NM_001145474.3/0;CC=c.38-101C>T;VC=Intron;Gene=TEX38/NM_001300863.1/0;CC=c.-46-180C>T;VC=Intron;Gene=TEX38/NM_001300864.1/1;CC=c.-40-252C>T;VC=Intron;DM=TEX38/THEG4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A,G,T:32:32:0:0:1,1,30:23,9,788:1.29,0.21,92.03:1.29,0.21,92.03:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:133.0,124.0,48.7:0,0,0:0,0,0:21,90,42:130,61,108:0,0,28:NM_001145474.2(TEX38) c.38-101C>T,NM_001145474.2(TEX38) c.38-101C>T:1,1:NOT_FOUND,NOT_FOUND 1 47138819 rs614486 T G 260 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=165;DB;DBA=NA;PAF=T/0.4607,G/0.5393;PC=0.053;Gene=TEX38/NM_001145474.3/0;CC=c.312T>G;ProtCh=p.D104E;VC=Missense;Gene=TEX38/NM_001300863.1/0;CC=c.150T>G;ProtCh=p.D50E;VC=Missense;Gene=TEX38/NM_001300864.1/1;CC=c.84T>G;ProtCh=p.D28E;VC=Missense;DM=TEX38/THEG4;DM=TEX38/THEG4;DM=TEX38/THEG4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:165:100:0:0:1,83,81:9,2695,2470:-0.16,259.65,0.00:-0.06,119.94,0.00:-0.10,139.71,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.0,39.3,7.3:0,0,0:0,0,0:97,73,82:54,73,68:0,37,37:NM_001145474.2(TEX38) c.312T>G (p.Asp104Glu),-:0.54,-:0.369032,- 1 47139103 rs1025806 C T 93 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.7338,T/0.2662;PC=0.268;Gene=TEX38/NM_001145474.3/0;CC=c.596C>T;ProtCh=p.A199V;VC=Missense;Gene=TEX38/NM_001300863.1/0;CC=c.434C>T;ProtCh=p.A145V;VC=Missense;Gene=TEX38/NM_001300864.1/1;CC=c.368C>T;ProtCh=p.A123V;VC=Missense;DM=TEX38/THEG4;DM=TEX38/THEG4;DM=TEX38/THEG4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:64:24:0:0:32,1,31:1005,11,967:0.00,-0.04,92.50:0.00,-0.07,12.37:0.00,0.04,80.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.8,148.0,43.1:0,0,0:0,0,0:105,140,84:44,11,65:29,0,24:-,NM_001145474.2(TEX38) c.596C>T (p.Ala199Val):-,0.3:-,0.242444 1 47139129 . C . . NT END=47144132;NT GT ./. 1 47144309 . C . . NT END=47148971;NT GT ./. 1 47144484 rs618878 A G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4694,G/0.5306;PC=0.001;Gene=EFCAB14-AS1/NR_038827.1/0;VC=NonCoding;Gene=EFCAB14-AS1/NR_038828.1/0;VC=NonCoding;Gene=EFCAB14/NM_014774.2/1;CC=c.1313-176T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,G:11:0:0:0:5,6:140,185:0.00,18.08:0.00,0.00:0.00,18.08:0.00,0.98:0.00,0.00:0.00,0.98:60,60:61.0,39.8:0,0:0,0:57,137:94,13:55,10:-,NM_014774.2(KIAA0494) c.1313-176T>C:-,0.49:-,NOT_FOUND 1 47144492 rs60628974 TAA T 8 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=7;Gene=EFCAB14-AS1/NR_038827.1/0;VC=NonCoding;Gene=EFCAB14-AS1/NR_038828.1/0;VC=NonCoding;Gene=EFCAB14/NM_014774.2/1;CC=c.1313-186_1313-185delTT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:TAA,T:8:0:0:4:5,3:133,103:0.00,7.63:0.00,0.00:0.00,7.63:0.00,0.64:0.00,0.00:0.00,0.64:60,60:67.8,51.3:0,1:0,0:142,56:8,95:6,48:-,NM_014774.2(KIAA0494) c.1313-186_1313-185delTT:-,NOT_FOUND:-,NOT_FOUND 1 47144532 rs618505 T C 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1707,C/0.8293;PC=0.003;Gene=EFCAB14-AS1/NR_038827.1/0;VC=NonCoding;Gene=EFCAB14-AS1/NR_038828.1/0;VC=NonCoding;Gene=EFCAB14/NM_014774.2/1;CC=c.1313-224A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,T:7:0:0:0:6,1:185,10:20.20,0.00:0.00,0.00:20.20,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:69.8,8.0:0,0:0,0:76,57:75,50:30,0:NM_014774.2(KIAA0494) c.1313-224A>G,NM_014774.2(KIAA0494) c.1313-224A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 47149098 . C . . NT END=47150162;NT GT ./. 1 47150275 . C . . NT END=47152455;NT GT ./. 1 47152543 . C . . NT END=47154024;NT GT ./. 1 47153855 rs11211340 T A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7278,A/0.2722;PC=0.995;Gene=EFCAB14-AS1/NR_038827.1/0;VC=NonCoding;Gene=EFCAB14-AS1/NR_038828.1/0;VC=NonCoding;Gene=EFCAB14/NM_014774.2/1;CC=c.987+170A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,T:8:8:0:0:4,4:127,118:12.20,0.00:12.20,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:31.8,2.0:0,0:0,0:17,96:132,55:17,42:NM_014774.2(KIAA0494) c.987+170A>T,-:0.3,-:NOT_FOUND,- 1 47154217 . C . . NT END=47155258;NT GT ./. 1 47154272 rs2304745 C T 64 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.7454,T/0.2546;PC=0.900;Gene=EFCAB14-AS1/NR_038827.1/0;VC=NonCoding;Gene=EFCAB14-AS1/NR_038828.1/0;VC=NonCoding;Gene=EFCAB14/NM_014774.2/1;CC=c.796-56G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:11:0:0:16,20:536,648:0.00,63.60:0.00,12.88:0.00,50.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,42.1:0,0:0,0:101,111:42,38:34,21:-,NM_014774.2(KIAA0494) c.796-56G>A:-,0.29:-,NOT_FOUND 1 47155364 . C . . NT END=47157498;NT GT ./. 1 47155462 rs2241862 G A 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4625,A/0.5375;Gene=EFCAB14-AS1/NR_038827.1/0;VC=NonCoding;Gene=EFCAB14-AS1/NR_038828.1/0;VC=NonCoding;Gene=EFCAB14/NM_014774.2/1;CC=c.691-99C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:21:3:0:0:9,11,1:288,354,10:27.12,0.00,0.12:1.41,0.00,-0.02:25.71,0.00,0.14:1.00,0.00,0.00:0.83,0.00,0.00:1.00,0.00,0.00:60,60,60:33.1,7.9,225.0:0,0,0:0,0,0:61,114,125:90,35,26:39,29,0:NM_014774.2(KIAA0494) c.691-99C>T,-:0.53,-:NOT_FOUND,- 1 47157610 . C . . NT END=47162222;NT GT ./. 1 47162322 . C . . NT END=47173577;NT GT ./. 1 47166658 rs3991763 A AGTGTGT 8 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=2;NP=2;NP=3;NP=78;Gene=EFCAB14/NM_014774.2/1;CC=c.481-4338_481-4337insACACAC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AGTGTGT:4:3:3:0:1,3:34,76:0.00,8.05:0.00,7.33:0.00,0.72:0.00,0.85:0.00,0.99:0.00,0.95:60,70:0.0,54.0:0,0:0,0:109,45:26,106:0,33:-,NM_014774.2(KIAA0494) c.481-4338_481-4337insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 47173724 . C . . NT END=47181966;NT GT ./. 1 47181920 rs10718376 CA C 61 idl,rn VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.008;Gene=EFCAB14/NM_014774.2/1;CC=c.334+46delT;VC=Intron;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:63:74:9:37:36,6,21:1190,277,986:0.00,14.07,60.54:0.00,14.10,57.45:0.00,-0.03,3.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.73:60,60,60:40.6,113.3,47.7:0,3,10:0,0,0:81,11,53:69,120,97:54,7,38:-,NM_014774.2(KIAA0494) c.334+46delT:-,NOT_FOUND:-,NOT_FOUND 1 47182116 . C . . NT END=47183574;NT GT ./. 1 47182206 rs3737731 C T 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.725,T/0.275;PC=0.007;Gene=EFCAB14/NM_014774.2/1;CC=c.186-91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:45:11:0:0:1,21,23:10,686,735:-0.01,0.00,71.22:-0.02,0.00,18.24:0.02,0.00,52.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.0,4.7,39.1:0,0,0:0,0,0:22,108,118:128,42,33:0,10,20:-,NM_014774.2(KIAA0494) c.186-91G>A:-,0.31:-,NOT_FOUND 1 47183760 . C . . NT END=47264753;NT GT ./. 1 47264495 rs632133 C A 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.149,A/0.851 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:295:33.79:33.79:0.00:1.00:1.00:0.00:60:34.3:0:0:49:102:16:NM_000779.3(CYP4B1) c.-84-u175C>A,NM_000779.3(CYP4B1) c.-84-u175C>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 47264934 . G . . NT END=47276479;NT GT ./. 1 47276242 rs11211366 C G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7286,G/0.2714;Gene=CYP4B1/NM_000779.3/1;CC=c.181-238C>G;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.181-238C>G;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,G:9:9:0:0:5,4:119,137:0.00,12.95:0.00,12.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:34.4,39.5:0,0:0,0:104,62:47,87:32,37:-,NM_000779.3(CYP4B1) c.181-238C>G:-,0.24:-,NOT_FOUND 1 47276622 . G . . NT END=47276811;NT GT ./. 1 47276728 rs2297812 G C 75 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.504,C/0.496;Gene=CYP4B1/NM_000779.3/1;CC=c.323-84G>C;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.323-84G>C;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:59:30:0:0:24,35:811,1115:75.22,0.00:29.04,0.00:46.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,7.2:0,0:0,0:65,40:84,111:35,32:NM_000779.3(CYP4B1) c.323-84G>C,-:0.5,-:NOT_FOUND,- 1 47276857 . G . . NT END=47278167;NT GT ./. 1 47278296 . G . . NT END=47279153;NT GT ./. 1 47278471 rs12410657 G C 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.874,A/.,C/0.126;Gene=CYP4B1/NM_000779.3/1;CC=c.495+176G>C;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.495+176G>C;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:17:1:0:0:8,9:231,244:21.81,0.00:-0.28,0.00:22.09,0.00:0.99,0.00:0.65,0.00:1.00,0.00:60,60:36.2,24.3:0,0:0,0:89,108:62,42:29,32:NM_000779.3(CYP4B1) c.495+176G>C,-:0.11,-:NOT_FOUND,- 1 47278997 rs4646486 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.851,C/0.149;Gene=CYP4B1/NM_000779.3/1;CC=c.496-157T>C;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.496-157T>C;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:8,10:271,277:25.58,0.00:25.58,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:44.4,23.5:0,0:0,0:46,34:104,115:11,22:NM_000779.3(CYP4B1) c.496-157T>C,-:0.13,-:NOT_FOUND,- 1 47279175 rs4646487 C T 101 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.8155,T/0.1845;PC=0.080;Gene=CYP4B1/NM_000779.3/1;CC=c.517C>T;ProtCh=p.R173W;VC=Missense;Gene=CYP4B1/NM_001099772.1/0;CC=c.517C>T;ProtCh=p.R173W;VC=Missense;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:54:0:0:39,34:1214,1063:0.00,100.62:0.00,54.85:0.00,45.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,40.2:0,0:0,0:92,58:51,90:33,24:-,NM_000779.3(CYP4B1) c.517C>T (p.Arg173Trp):-,0.15:-,0.148547 1 47279279 . G . . NT END=47279580;NT GT ./. 1 47279558 rs4646489 CCCT C 114 nt VT=DEL;SST=Single;DP=83;DB;DBA=NA;PAF=CCCT/0.8265,C/0.1735;DB;DBA=NA;PAF=CCCT/0.8265,C/0.1735;NP=851;Gene=CYP4B1/NM_000779.3/1;CC=c.621-19_621-17delCCT;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.621-16_621-14delCCT;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCCT,C:83:68:0:38:45,38:1475,1208:0.00,114.09:0.00,71.65:0.00,42.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,6.0:0,0:0,0:54,51:94,86:28,23:-,NM_000779.3(CYP4B1) c.621-25_621-23delCCT:-,0.15:-,0.146166 1 47279736 . G . . NT END=47279880;NT GT ./. 1 47279988 . G . . NT END=47280745;NT GT ./. 1 47280085 rs78619059 C CCT 31 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5276,CC/.,CCT/0.4724,CT/.;DB;DBA=NA;PAF=NA;NP=562;Gene=CYP4B1/NM_000779.3/1;CC=c.879+99_879+100dupCT;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.882+99_882+100dupCT;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCT:23:1:11:0:12,11:392,327:0.00,31.03:0.00,-0.28:0.00,31.31:0.00,1.00:0.00,0.65:0.00,1.00:60,60:0.0,8.4:0,0:0,0:123,122:27,29:18,18:-,NM_000779.3(CYP4B1) c.879+98_879+99insCT:-,NOT_FOUND:-,NOT_FOUND 1 47280550 rs11576162 G C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8684,C/0.1316;PC=0.260;Gene=CYP4B1/NM_000779.3/1;CC=c.880-196G>C;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.883-196G>C;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:C,G:11:11:0:0:5,6:169,180:16.00,0.00:16.00,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:40.4,4.2:0,0:0,0:59,95:85,54:31,40:NM_000779.3(CYP4B1) c.880-196G>C,-:0.11,-:NOT_FOUND,- 1 47280937 . G . . NT END=47282719;NT GT ./. 1 47281183 rs4646492 C T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8684,T/0.1316;Gene=CYP4B1/NM_000779.3/1;CC=c.1070+247C>T;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.1073+247C>T;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:0:0:0:1,3:36,92:0.00,9.65:0.00,0.00:0.00,9.65:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,45.7:0,0:0,0:81,138:70,13:0,5:-,NM_000779.3(CYP4B1) c.1070+247C>T:-,0.11:-,NOT_FOUND 1 47282854 . G . . NT END=47283636;NT GT ./. 1 47283505 rs4646495 G T 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=CYP4B1/NM_000779.3/1;CC=c.1205-132G>T;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.1208-132G>T;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:G,T:13:13:0:0:5,8:138,279:0.00,27.96:0.00,27.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,52.0:0,0:0,0:52,48:98,102:38,21:-,NM_000779.3(CYP4B1) c.1205-132G>T:-,0.19:-,NOT_FOUND 1 47283702 . G . . NT END=47283802;NT GT ./. 1 47283886 . G . . NT END=47284302;NT GT ./. 1 47284148 rs182895572 C A 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9986,A/0.001398;NP=11;Gene=CYP4B1/NM_000779.3/1;CC=c.1353-155C>A;VC=Intron;Gene=CYP4B1/NM_001099772.1/0;CC=c.1356-155C>A;VC=Intron;DM=CYP4B1/p450;DM=CYP4B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:16:0:0:8,11:234,351:21.60,0.00:18.56,0.00:3.04,0.00:0.99,0.00:1.00,0.00:0.82,0.00:60,60:55.8,18.3:0,0:0,0:52,80:98,71:33,18:NM_000779.3(CYP4B1) c.1353-155C>A,-:0.0027,-:NOT_FOUND,- 1 47284487 . C . . NT END=47395786;NT GT ./. 1 47284526 rs3766196 C A 78 nt VT=SNV;PN=A;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.8684,A/0.1316,T/.;Gene=CYP4B1/NM_000779.3/1;CC=c.*40C>A;VC=3UTR;Gene=CYP4B1/NM_001099772.1/0;CC=c.*40C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:59:14:0:0:28,31:824,979:77.98,0.00:11.03,0.00:66.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.9,12.7:0,0:0,0:110,115:40,36:29,27:NM_000779.3(CYP4B1) c.*40C>A,-:0.11,-:0.099877,- 1 47284572 rs3766195 G A 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7815,A/0.2185;Gene=CYP4B1/NM_000779.3/1;CC=c.*86G>A;VC=3UTR;Gene=CYP4B1/NM_001099772.1/0;CC=c.*86G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:1:0:0:18,15:535,462:52.23,0.00:-0.34,0.00:52.58,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:57.5,9.5:0,0:0,0:105,107:45,43:22,26:NM_000779.3(CYP4B1) c.*86G>A,-:0.19,-:NOT_FOUND,- 1 47309265 rs10749865 A G 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.5687,G/0.4313;PC=0.003;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:2:0:0:7,11:227,354:0.00,35.41:0.00,-0.41:0.00,35.82:0.00,1.00:0.00,0.87:0.00,1.00:60,60:9.4,46.6:0,0:0,0:95,62:56,85:38,37:-,NR_002788.2(CYP4Z2P) n.1391-415T>C:-,0.42:-,NOT_FOUND 1 47311123 rs11584320 G A 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8492,A/0.1508;PC=0.003;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,G:5:5:0:0:3,2:82,52:8.16,0.00:8.16,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:49.0,32.5:0,0:0,0:128,61:23,90:6,7:NR_002788.2(CYP4Z2P) n.1307+213C>T,-:0.13,-:NOT_FOUND,- 1 47311164 rs114263711 A G 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9864,G/0.01358;PC=0.002;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G:4:4:0:0:1,3:28,98:0.00,10.25:0.00,10.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:31.0,49.0:0,0:0,0:53,95:98,56:0,14:-,NR_002788.2(CYP4Z2P) n.1307+172T>C:-,0.02:-,NOT_FOUND 1 47325299 rs11328022 TA T 47 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=340;PC=0.027;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:36:38:3:19:1,17,2,16:29,530,96,592:1.59,0.00,4.38,47.30:1.63,0.00,4.46,37.04:-0.04,0.00,-0.08,10.25:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:56.0,29.6,33.5,40.4:0,0,1,3:0,0,0,0:1,54,23,52:150,88,127,99:0,29,2,24:-,NR_002788.2(CYP4Z2P) n.1242+26delT:-,NOT_FOUND:-,NOT_FOUND 1 47325357 rs61741519 A G 92 nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.8658,G/0.1342;PC=0.641;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:49:0:0:28,28:863,953:0.00,91.80:0.00,51.33:0.00,40.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.9,39.0:0,0:0,0:60,66:80,79:25,35:-,NR_002788.2(CYP4Z2P) n.1211T>C:-,0.11:-,NOT_FOUND 1 47333836 rs4660963 G C 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.2626,C/0.7374;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:6:0:0:19,20:590,637:56.31,0.00:11.00,0.00:45.31,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:31.1,9.6:0,0:0,0:109,87:41,63:29,27:NR_002788.2(CYP4Z2P) n.918-27C>G,-:0.67,-:NOT_FOUND,- 1 47338888 rs3117715 C A 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5757,A/0.4243;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:25:0:0:11,18:339,601:30.79,0.00:25.27,0.00:5.52,0.00:1.00,0.00:1.00,0.00:0.99,0.00:57,60:48.7,2.0:0,0:0,0:23,38:128,106:20,30:NR_002788.2(CYP4Z2P) n.917+28G>T,-:0.4,-:NOT_FOUND,- 1 47339113 rs2211012 G T 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.648,T/0.352;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:G,T:16:1:0:0:8,8:189,172:0.00,16.12:0.00,-0.29:0.00,16.41:0.00,1.00:0.00,0.67:0.00,1.00:60,60:7.8,63.5:0,0:0,0:77,87:73,63:43,30:-,NR_002788.2(CYP4Z2P) n.814-94C>A:-,0.35:-,NOT_FOUND 1 47339171 . CT C 8 rn VT=DEL;SST=Single;DP=9;NP=1;PC=0.003;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:CT,C:9:0:0:3:6,3:195,95:0.00,8.44:0.00,0.00:0.00,8.44:0.00,0.64:0.00,0.00:0.00,0.64:60,60:19.2,77.3:0,0:0,0:123,96:27,55:12,17:-,NR_002788.2(CYP4Z2P) n.814-153delA:-,NOT_FOUND:-,NOT_FOUND 1 47348573 rs202002284 C G 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:32:25:0:0:19,13:594,453:0.00,42.12:0.00,32.27:0.00,9.85:0.00,1.00:0.00,1.00:0.00,0.96:40,40:10.7,40.5:0,0:0,0:45,55:105,96:22,28:-,NR_002788.2(CYP4Z2P) n.813+37G>C:-,NOT_FOUND:-,NOT_FOUND 1 47349050 rs2247305 T C 38 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=140;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:21:0:0:14,62:472,1888:38.12,0.00:5.06,0.00:33.07,0.00:1.00,0.00:0.96,0.00:1.00,0.00:43,60:49.1,8.7:0,0:0,0:144,115:6,35:3,22:NR_002788.2(CYP4Z2P) n.534-82A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 47349160 rs200354389 C T 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=28;PC=0.106;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:14,7:453,238:0.00,21.34:0.00,0.00:0.00,21.34:0.00,0.97:0.00,0.00:0.00,0.97:60,42:8.0,41.6:0,0:0,0:97,59:53,91:34,14:-,NR_002788.2(CYP4Z2P) n.534-192G>A:-,NOT_FOUND:-,NOT_FOUND 1 47351034 rs5003006 T A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4944,A/0.5056;NP=422;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:25:0:0:9,17:290,552:26.01,0.00:21.52,0.00:4.49,0.00:0.99,0.00:1.00,0.00:0.82,0.00:41,60:64.3,8.3:0,0:0,0:24,56:127,95:9,39:NR_002788.2(CYP4Z2P) n.533+94A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 47351052 rs5003005 A T 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4734,T/0.5266;NP=1351;PC=0.001;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:33:31:0:0:21,12:705,388:0.00,35.12:0.00,32.86:0.00,2.26:0.00,1.00:0.00,1.00:0.00,0.96:60,44:9.4,56.5:0,0:0,0:56,38:95,112:40,20:-,NR_002788.2(CYP4Z2P) n.533+76T>A:-,NOT_FOUND:-,NOT_FOUND 1 47358321 rs140985335 T A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=2467;PC=1.000;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G,T:22:11:0:0:3,1,18:102,10,571:7.89,-0.02,0.00:2.63,-0.12,0.00:5.26,0.10,0.00:0.48,0.00,0.00:0.73,0.00,0.00:0.87,0.00,0.00:42,27,43:34.0,42.0,12.9:0,0,0:0,0,0:105,56,114:45,95,37:8,0,23:NR_002788.2(CYP4Z2P) n.361-5354A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 47358404 . G A 22 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;NP=27;PC=1.000;Gene=CYP4Z2P/NR_002788.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:1:0:0:6:192:22.06:1.94:20.12:1.00:1.00:1.00:27:50.5:0:0:135:16:6:NR_002788.2(CYP4Z2P) n.361-5437C>T,NR_002788.2(CYP4Z2P) n.361-5437C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47395513 rs4660363 C T 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CYP4A11/NM_000778.3/1;CC=c.*274G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:8:8:0:0:2,6:69,184:0.00,19.31:0.00,19.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:15,43:0.0,33.0:0,0:0,0:28,38:121,112:19,3:-,NM_000778.3(CYP4A11) c.*274G>A:-,0.81:-,NOT_FOUND 1 47395973 rs1126743 G A 190 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=130;DB;DBA=NA;PAF=G/0.4285,A/0.5715,C/.;PC=0.186;Gene=CYP4A11/NM_000778.3/1;CC=c.1374C>T;ProtCh=p.I458=;VC=Silent;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:130:70:0:0:62,68:1998,2259:190.27,0.00:75.30,0.00:114.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,9.0:0,0:0,0:100,92:48,54:25,28:NM_000778.3(CYP4A11) c.1374C>T (p.(=)),-:0.59,-:0.660234,- 1 47395983 . C . . NT END=47398428;NT GT ./. 1 47397089 rs4660979 C T 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7997,T/0.2003;Gene=CYP4A11/NM_000778.3/1;CC=c.1365-1107G>A;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:13:13:0:0:5,8:163,259:0.00,25.95:0.00,21.02:0.00,4.93:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.4,32.4:0,0:0,0:27,39:124,110:25,12:-,NM_000778.3(CYP4A11) c.1365-1107G>A:-,0.17:-,NOT_FOUND 1 47398228 rs148556935 G A 157 nt VT=SNV;PN=A;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CYP4A11/NM_000778.3/1;CC=c.1364+205C>T;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:75:0:0:52,56:1649,1856:157.19,0.00:99.38,0.00:57.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,50:38.0,9.9:0,0:0,0:75,57:75,94:35,27:NM_000778.3(CYP4A11) c.1364+205C>T,-:0.17,-:NOT_FOUND,- 1 47398496 rs1126742 A G 274 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=191;DB;DBA=NA;PAF=A/0.7586,G/0.2414;Gene=CYP4A11/NM_000778.3/1;CC=c.1301T>C;ProtCh=p.F434S;VC=Missense;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:191:119:0:0:102,89:3230,2893:0.00,274.48:0.00,126.00:0.00,148.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,40.0:0,0:0,0:78,61:64,89:32,38:-,NM_000778.3(CYP4A11) c.1301T>C (p.Phe434Ser):-,0.17:-,0.183608 1 47398510 . C . . NT END=47398654;NT GT ./. 1 47398720 . C . . NT END=47399617;NT GT ./. 1 47398743 rs3890011 G C 143 nt VT=SNV;PN=A;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.4285,C/0.5715;PC=0.050;Gene=CYP4A11/NM_000778.3/1;CC=c.1223-24C>G;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:105:45:0:0:46,59:1519,1984:142.59,0.00:34.98,0.00:107.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,8.4:0,0:0,0:91,94:55,51:33,24:NM_000778.3(CYP4A11) c.1223-24C>G,-:0.59,-:0.660157,- 1 47398913 rs3890010 C T 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8255,T/0.1745;Gene=CYP4A11/NM_000778.3/1;CC=c.1223-194G>A;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:22:0:0:0:9,13:193,362:0.00,36.01:0.00,0.00:0.00,36.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:42.8,46.8:0,0:0,0:102,112:49,39:31,35:-,NM_000778.3(CYP4A11) c.1223-194G>A:-,0.15:-,NOT_FOUND 1 47399415 rs28438640 C A 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4285,A/0.5715;Gene=CYP4A11/NM_000778.3/1;CC=c.1222+203G>T;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:27:0:0:13,14:413,376:39.42,0.00:39.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.2,52.5:0,0:0,0:32,44:119,101:22,29:NM_000778.3(CYP4A11) c.1222+203G>T,-:0.57,-:NOT_FOUND,- 1 47399497 rs4660980 T C 93 nt VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.7967,C/0.2033;Gene=CYP4A11/NM_000778.3/1;CC=c.1222+121A>G;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:65:0:0:32,33:974,926:93.12,0.00:93.12,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.3,37.4:0,0:0,0:43,56:107,94:27,35:NM_000778.3(CYP4A11) c.1222+121A>G,-:0.17,-:NOT_FOUND,- 1 47399804 . C . . NT END=47399847;NT GT ./. 1 47399967 rs28451040 G A 212 lc VT=SNV;PN=C;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=G/0.6058,A/0.3942,T/.;PC=0.001;Gene=CYP4A11/NM_000778.3/1;CC=c.969C>T;ProtCh=p.H323=;VC=Silent;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:138:80:0:0:70,68:2203,2092:212.16,0.00:106.38,0.00:105.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,52:51.2,21.4:0,0:0,0:95,93:53,57:25,39:NM_000778.3(CYP4A11) c.969C>T (p.(=)),-:0.38,-:0.304938,- 1 47400039 . C . . NT END=47400124;NT GT ./. 1 47400059 rs71500102 A G 429 nt VT=SNV;PN=A;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=CYP4A11/NM_000778.3/1;CC=c.898-21T>C;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:115:60:0:0:1,113,1:9,3776,11:0.00,429.42,0.11:0.00,202.43,0.11:0.00,226.99,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,49,40:243.0,44.6,22.0:0,0,0:0,0,0:140,62,139:11,88,6:0,39,0:NM_000778.3(CYP4A11) c.898-21T>C,NM_000778.3(CYP4A11) c.898-21T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 47400232 . C . . NT END=47400671;NT GT ./. 1 47400827 . C . . NT END=47401194;NT GT ./. 1 47401023 rs150932197 T C 85 nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=CYP4A11/NM_000778.3/1;CC=c.635+172A>G;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:46:0:0:27,33:897,959:84.70,0.00:51.63,0.00:33.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,42:42.5,9.8:0,0:0,0:65,43:86,108:26,33:NM_000778.3(CYP4A11) c.635+172A>G,-:0.17,-:NOT_FOUND,- 1 47401320 . C . . NT END=47402335;NT GT ./. 1 47401424 rs2269231 A T 124 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.4293,T/0.5707;Gene=CYP4A11/NM_000778.3/1;CC=c.511-105T>A;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:74:7:0:0:33,1,40:1021,10,1266:0.00,-0.07,123.86:0.00,-0.01,4.94:0.00,-0.05,118.92:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,50,57:3.5,229.0,66.9:0,0,0:0,0,0:115,66,98:34,85,53:26,0,36:-,NM_000778.3(CYP4A11) c.511-105T>A:-,NOT_FOUND:-,NOT_FOUND 1 47401466 rs2269232 T C 77 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.4293,C/0.5707;Gene=CYP4A11/NM_000778.3/1;CC=c.511-147A>G;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:2:0:0:27,18:776,553:77.28,0.00:3.60,0.00:73.67,0.00:1.00,0.00:0.87,0.00:1.00,0.00:57,60:71.6,22.5:0,1:0,0:95,113:54,37:28,6:NM_000778.3(CYP4A11) c.511-147A>G,-:0.58,-:NOT_FOUND,- 1 47402464 . C . . NT END=47402973;NT GT ./. 1 47402487 rs67512144 TTGTG T 410 idl,rn VT=DEL;SST=Single;DP=188;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=549;PC=0.636;Gene=CYP4A11/NM_000778.3/1;CC=c.383-28_383-25delCACA;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTGTG,T:168:108:0:146:44,124:1406,4514:0.00,409.73:0.00,162.27:0.00,247.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.9,9.5:0,20:0,0:126,70:22,77:6,25:-,NM_000778.3(CYP4A11) c.383-28_383-25delCACA:-,NOT_FOUND:-,NOT_FOUND 1 47403019 . C . . NT END=47403667;NT GT ./. 1 47403810 . C . . NT END=47406353;NT GT ./. 1 47406633 . A . . NT END=47406910;NT GT ./. 1 47406756 rs189450424 A C 96 nt VT=SNV;PN=G;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.9986,C/0.001398;NP=8;Gene=CYP4A11/NM_000778.3/1;CC=c.195+155T>G;VC=Intron;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450;DM=CYP4A11/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:54:29:0:0:22,31,1:628,966,9:0.00,95.77,-0.04:0.00,44.14,0.03:0.00,51.63,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:16.5,37.3,86.0:0,0,0:0,0,0:64,89,99:84,61,44:31,33,0:-,NM_000778.3(CYP4A11) c.195+155T>G:-,0.0023:-,NOT_FOUND 1 47407106 . G . . NT END=47427254;NT GT ./. 1 47427429 . G . . NT END=47489239;NT GT ./. 1 47489001 rs2055498 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9279,T/0.07208 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:4:0:0:1,3:33,105:0.00,10.95:0.00,10.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:25.0,35.0:0,0:0,0:63,73:88,78:0,34:-,NM_178033.1(CYP4X1) c.-250-u239C>T:-,0.07:-,NOT_FOUND 1 47489667 . g . . NT END=47495661;NT GT ./. 1 47489786 rs2036462 T C 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.5411,C/0.4589;Gene=CYP4X1/NM_178033.1/1;CC=c.177+120T>C;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:0:0:0:19,19:469,634:44.23,0.00:0.00,0.00:44.23,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.4,4.4:0,0:0,0:78,73:73,78:37,43:NM_178033.1(CYP4X1) c.177+120T>C,-:0.45,-:NOT_FOUND,- 1 47495605 rs17102977 A G 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.8738,G/0.1262;Gene=CYP4X1/NM_178033.1/1;CC=c.178-57A>G;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:35:0:0:23,20:736,669:0.00,63.55:0.00,38.83:0.00,24.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,40.1:0,0:0,0:51,59:90,90:18,17:-,NM_178033.1(CYP4X1) c.178-57A>G:-,0.13:-,NOT_FOUND 1 47495804 . G . . NT END=47497107;NT GT ./. 1 47495822 rs12141009 C T 100 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.6338,T/0.3662;Gene=CYP4X1/NM_178033.1/1;CC=c.319+19C>T;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:23:0:0:16,32:567,982:0.00,100.11:0.00,27.12:0.00,72.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,33.7:0,0:0,0:82,85:62,63:25,38:-,NM_178033.1(CYP4X1) c.319+19C>T:-,0.35:-,0.208596 1 47496983 rs12041262 C A 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.5427,A/0.4573;Gene=CYP4X1/NM_178033.1/1;CC=c.320-125C>A;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:22:22:0:0:12,9,1:378,312,13:37.28,0.00,0.37:35.47,0.00,0.37:1.81,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.70,0.00,0.00:60,60,60:46.4,23.9,114.0:0,0,0:0,0,0:45,51,2:106,100,128:29,39,0:NM_178033.1(CYP4X1) c.320-125C>A,-:0.44,-:NOT_FOUND,- 1 47497037 rs11211420 G A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.8836,A/0.1164,T/.;Gene=CYP4X1/NM_178033.1/1;CC=c.320-71G>A;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:34:30:0:0:13,20,1:364,618,11:32.94,0.00,0.04:26.08,0.00,0.09:6.87,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:60,60,60:30.6,21.7,114.0:0,0,0:0,0,0:50,45,56:101,106,74:23,29,0:NM_178033.1(CYP4X1) c.320-71G>A,-:0.12,-:0.077749,- 1 47497153 . G . . NT END=47498912;NT GT ./. 1 47499041 . G . . NT END=47501477;NT GT ./. 1 47501227 rs12736235 G A 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4169,A/0.5831;Gene=CYP4X1/NM_178033.1/1;CC=c.493-251G>A;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:331:38.29:38.29:0.00:1.00:1.00:0.00:60:51.2:0:0:59:92:25:NM_178033.1(CYP4X1) c.493-251G>A,NM_178033.1(CYP4X1) c.493-251G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47501606 . G . . NT END=47501688;NT GT ./. 1 47501844 . G . . NT END=47504331;NT GT ./. 1 47502042 rs58369367 T A 13 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.871,A/0.129;DB;DBA=NA;PAF=NA;PC=0.017;Gene=CYP4X1/NM_178033.1/1;CC=c.775+199T>A;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,T:6:0:0:0:4,2:125,64:12.75,0.00:0.00,0.00:12.75,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:77.0,19.0:0,0:0,0:141,139:7,10:3,2:NM_178033.1(CYP4X1) c.775+199T>A,-:0.13,-:NOT_FOUND,- 1 47504217 rs2221324 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.892,G/0.108;PC=0.289;Gene=CYP4X1/NM_178033.1/1;CC=c.776-115A>G;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:25:0:0:10,15:293,482:0.00,48.06:0.00,48.06:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.8,38.2:0,0:0,0:72,75:78,76:36,50:-,NM_178033.1(CYP4X1) c.776-115A>G:-,0.11:-,NOT_FOUND 1 47504439 . G . . NT END=47505013;NT GT ./. 1 47504795 rs1393667 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4167,C/0.5833;Gene=CYP4X1/NM_178033.1/1;CC=c.883-219T>C;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:4:0:0:6:164:19.20:13.15:6.05:1.00:1.00:1.00:60:71.5:0:0:79:71:11:NM_178033.1(CYP4X1) c.883-219T>C,NM_178033.1(CYP4X1) c.883-219T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47504936 rs2292060 C A 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.902,A/0.09804;Gene=CYP4X1/NM_178033.1/1;CC=c.883-78C>A;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:28:28:0:0:15,13:438,427:42.50,0.00:39.44,0.00:3.06,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:34.1,16.8:0,0:0,0:57,48:93,101:23,27:NM_178033.1(CYP4X1) c.883-78C>A,-:0.1,-:NOT_FOUND,- 1 47505205 . G . . NT END=47512138;NT GT ./. 1 47505382 rs3073870 GAA G 41 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;Gene=CYP4X1/NM_178033.1/1;CC=c.1073+190_1073+191delAA;VC=Intron;DM=CYP4X1/p450;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GAA,G:13:0:0:16:1,12:32,501:0.00,40.97:0.00,0.00:0.00,40.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.0,8.3:0,4:0,0:147,117:4,33:0,10:NM_178033.1(CYP4X1) c.1073+179_1073+180delAA,NM_178033.1(CYP4X1) c.1073+179_1073+180delAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47512273 . G . . NT END=47514236;NT GT ./. 1 47514024 rs10890447 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4491,G/0.5509;Gene=CYP4X1/NM_178033.1/1;CC=c.1208-213A>G;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:38.6:0:0:60:91:31:NM_178033.1(CYP4X1) c.1208-213A>G,NM_178033.1(CYP4X1) c.1208-213A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 47514302 . G . . NT END=47515093;NT GT ./. 1 47515177 . G . . NT END=47515671;NT GT ./. 1 47515563 rs397954551 G GA 52 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4197,GA/0.5803;DB;DBA=NA;PAF=G/0.4197,GA/0.5803;DB;DBA=NA;PAF=G/0.4197,GA/0.5803;DB;DBA=NA;PAF=G/0.4197,GA/0.5803;NP=1956;PC=0.002;Gene=CYP4X1/NM_178033.1/1;CC=c.1356-104dupA;VC=Intron;DM=CYP4X1/p450;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:GA:15:15:15:0:15:447:51.85:51.85:0.00:1.00:1.00:0.00:70:33.1:0:0:47:104:26:NM_178033.1(CYP4X1) c.1356-109_1356-108insA,NM_178033.1(CYP4X1) c.1356-109_1356-108insA:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47515596 rs1393659 A C 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4165,C/0.5835;Gene=CYP4X1/NM_178033.1/1;CC=c.1356-76A>C;VC=Intron;DM=CYP4X1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:19:0:0:20:636:73.11:65.00:8.10:1.00:1.00:1.00:70:41.8:0:0:40:108:29:NM_178033.1(CYP4X1) c.1356-76A>C,NM_178033.1(CYP4X1) c.1356-76A>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47515847 . A . . NT END=47533162;NT GT ./. 1 47533340 . G . . NT END=47534293;NT GT ./. 1 47533391 rs573070846 T TA 10 rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.9994,TA/0.000599;NP=2;PC=0.006;Gene=CYP4Z1/NM_178134.2/1;CC=c.177+61dupA;VC=Intron;DM=CYP4Z1/p450;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:T,TA,D:57:18:5:1:51,5,1:1590,153,33:0.00,10.38,1.63:0.00,0.94,0.94:0.00,9.44,0.70:0.00,0.71,0.00:0.00,0.70,0.00:0.00,0.96,0.00:60,60,60:7.8,20.6,0.0:0,0,0:0,0,0:98,94,34:52,57,117:21,20,0:-,NM_178134.2(CYP4Z1) c.177+52_177+53insA:-,NOT_FOUND:-,NOT_FOUND 1 47534107 rs2055500 A T 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4165,C/.,T/0.5835;Gene=CYP4Z1/NM_178134.2/1;CC=c.178-187A>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:16:0:0:16:490:56.59:56.59:0.00:1.00:1.00:0.00:60:40.6:0:0:41:109:29:NM_178134.2(CYP4Z1) c.178-187A>T,NM_178134.2(CYP4Z1) c.178-187A>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47534436 . G . . NT END=47546294;NT GT ./. 1 47534636 rs9659815 T C 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4165,C/0.5835;PC=0.205;Gene=CYP4Z1/NM_178134.2/1;CC=c.319+201T>C;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:345:40.16:0.00:40.16:1.00:0.00:1.00:60:55.8:0:0:120:30:28:NM_178134.2(CYP4Z1) c.319+201T>C,NM_178134.2(CYP4Z1) c.319+201T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 47540548 rs146654636 C T 34 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2692;PC=1.000;Gene=CYP4Z1/NM_178134.2/1;CC=c.320-5747C>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:295:34.23:32.29:1.94:1.00:1.00:1.00:42:54.8:0:0:102:47:29:NM_178134.2(CYP4Z1) c.320-5747C>T,NM_178134.2(CYP4Z1) c.320-5747C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47540649 rs199673089 A G,T 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;PC=1.000;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:G,T:5:1:0:0:4,1:102,11:11.68,0.89:0.00,0.89:11.68,0.00:0.96,0.00:0.87,0.00:1.00,0.00:27,27:61.5,190.0:0,0:0,0:39,131:112,20:17,0:NM_178134.2(CYP4Z1) c.320-5646A>G,NM_178134.2(CYP4Z1) c.320-5646A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47546340 . G . . NT END=47548005;NT GT ./. 1 47547972 rs1502924 C G 92 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.8976,G/0.1024;Gene=CYP4Z1/NM_178134.2/1;CC=c.365-34C>G;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:55:49:0:0:27,28:912,953:0.00,92.08:0.00,64.77:0.00,27.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.7,35.5:0,0:0,0:65,48:82,96:28,22:-,NM_178134.2(CYP4Z1) c.365-34C>G:-,0.11:-,0.064047 1 47548134 . G . . NT END=47550291;NT GT ./. 1 47548189 rs61784349 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=2018;Gene=CYP4Z1/NM_178134.2/1;CC=c.492+56A>G;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,G:75:35:0:0:68,7:2279,216:0.00,14.86:0.00,9.57:0.00,5.29:0.00,0.88:0.00,0.90:0.00,0.99:60,42:4.4,35.6:0,0:0,0:101,60:44,91:28,5:-,NM_178134.2(CYP4Z1) c.492+56A>G:-,NOT_FOUND:-,NOT_FOUND 1 47550102 rs149128646 G A 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8958,A/0.1042;PC=0.232;Gene=CYP4Z1/NM_178134.2/1;CC=c.493-190G>A;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:9,7:285,212:28.05,0.00:28.05,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:52,60:79.0,16.4:0,0:0,0:35,43:115,107:21,39:NM_178134.2(CYP4Z1) c.493-190G>A,-:0.1,-:NOT_FOUND,- 1 47550145 rs113098733 C T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7931,T/0.2069;PC=0.020;Gene=CYP4Z1/NM_178134.2/1;CC=c.493-147C>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:12,16:375,521:0.00,51.44:0.00,51.44:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,52:12.6,52.9:0,0:0,0:41,33:109,117:19,27:-,NM_178134.2(CYP4Z1) c.493-147C>T:-,0.2:-,NOT_FOUND 1 47550246 rs201981953 G GA 163 nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.4307,GA/0.5693;NP=1025;PC=0.001;Gene=CYP4Z1/NM_178134.2/1;CC=c.493-43dupA;VC=Intron;DM=CYP4Z1/p450;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A,G,GA:59:55:54:0:1,4,54:29,77,1443:1.59,0.00,163.19:1.59,0.00,129.45:-0.00,0.00,33.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,60,55:57.0,41.0,6.1:0,3,0:0,0,0:0,100,66:149,50,82:0,27,23:NM_178134.2(CYP4Z1) c.493-46_493-45insA,NM_178134.2(CYP4Z1) c.493-46_493-45insA:0.54,0.54:0.266206,0.266206 1 47550417 . G . . NT END=47550495;NT GT ./. 1 47550651 . G . . NT END=47560237;NT GT ./. 1 47550767 rs201224892 A G 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7985,G/0.2015;NP=76;PC=0.692;Gene=CYP4Z1/NM_178134.2/1;CC=c.772+117A>G;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:13:1:0:0:9,4:278,129:0.00,11.32:0.00,-0.08:0.00,11.40:0.00,0.79:0.00,0.54:0.00,0.79:50,50:1.1,39.5:0,0:0,0:59,77:92,72:47,46:-,NM_178134.2(CYP4Z1) c.772+117A>G:-,NOT_FOUND:-,NOT_FOUND 1 47560039 rs12564635 G T 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4237,T/0.5763;PC=0.011;Gene=CYP4Z1/NM_178134.2/1;CC=c.773-199G>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:259:30.13:30.13:0.00:1.00:1.00:0.00:60:39.1:0:0:105:46:18:NM_178134.2(CYP4Z1) c.773-199G>T,NM_178134.2(CYP4Z1) c.773-199G>T:0.55,0.55:NOT_FOUND,NOT_FOUND 1 47560342 . G . . NT END=47564765;NT GT ./. 1 47560444 rs7549836 C T 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8978,T/0.1022;PC=0.512;Gene=CYP4Z1/NM_178134.2/1;CC=c.876+103C>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:17:0:0:0:11,6:330,203:0.00,18.38:0.00,0.00:0.00,18.38:0.00,0.95:0.00,0.00:0.00,0.95:60,50:1.8,37.0:0,0:0,0:134,113:17,37:12,10:-,NM_178134.2(CYP4Z1) c.876+103C>T:-,0.09:-,NOT_FOUND 1 47564531 rs11211441 G T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6296,T/0.3704;PC=0.007;Gene=CYP4Z1/NM_178134.2/1;CC=c.877-235G>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:G,T:9:9:0:0:5,4:146,134:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:11.8,33.5:0,0:0,0:60,51:90,99:37,29:-,NM_178134.2(CYP4Z1) c.877-235G>T:-,0.36:-,NOT_FOUND 1 47564957 . G . . NT END=47571799;NT GT ./. 1 47571536 rs1110425 C T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4046,T/0.5954;Gene=CYP4Z1/NM_178134.2/1;CC=c.1068-264C>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:72.2:0:0:14:136:10:NM_178134.2(CYP4Z1) c.1068-264C>T,NM_178134.2(CYP4Z1) c.1068-264C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 47571590 rs397826360 CGG C 58 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CGG/0.4099,C/0.5901;DB;DBA=NA;PAF=CGG/0.4099,C/0.5901;NP=123;Gene=CYP4Z1/NM_178134.2/1;CC=c.1068-202_1068-201delGG;VC=Intron;DM=CYP4Z1/p450;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:16:16:506:58.22:58.22:0.00:1.00:1.00:0.00:70:48.8:0:0:32:118:20:NM_178134.2(CYP4Z1) c.1068-209_1068-208delGG,NM_178134.2(CYP4Z1) c.1068-209_1068-208delGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47571601 rs2016160 G A 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4038,A/0.5962;Gene=CYP4Z1/NM_178134.2/1;CC=c.1068-199G>A;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:19:0:0:19:611:70.16:70.16:0.00:1.00:1.00:0.00:70:45.9:0:0:30:120:18:NM_178134.2(CYP4Z1) c.1068-199G>A,NM_178134.2(CYP4Z1) c.1068-199G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47571902 rs4926802 C T 271 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.4103,T/0.5897;PC=0.033;Gene=CYP4Z1/NM_178134.2/1;CC=c.1170C>T;ProtCh=p.I390=;VC=Silent;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:32:0:0:74:2358:271.04:75.17:195.86:1.00:1.00:1.00:64:78.4:1:0:88:58:36:NM_178134.2(CYP4Z1) c.1170C>T (p.(=)),NM_178134.2(CYP4Z1) c.1170C>T (p.(=)):0.53,0.53:0.383438,0.383438 1 47571905 rs28463559 C T 269 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.4205,T/0.5795;PC=0.994;Gene=CYP4Z1/NM_178134.2/1;CC=c.1173C>T;ProtCh=p.T391=;VC=Silent;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:C,T:71:30:0:0:1,70:35,2382:0.00,269.31:0.00,74.11:0.00,195.19:0.00,1.00:0.00,1.00:0.00,1.00:52,64:33.0,81.3:0,0:0,0:124,89:26,60:0,35:NM_178134.2(CYP4Z1) c.1173C>T (p.(=)),NM_178134.2(CYP4Z1) c.1173C>T (p.(=)):0.51,0.51:NOT_FOUND,NOT_FOUND 1 47571934 . G . . NT END=47581200;NT GT ./. 1 47571943 rs572508609 CTTT C 143 idl,nt VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;Gene=CYP4Z1/NM_178134.2/1;CC=c.1201+24_1201+26delTTT;VC=Intron;DM=CYP4Z1/p450;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTT,C:53:24:0:47:10,43:333,1467:0.00,143.43:0.00,35.58:0.00,107.86:0.00,1.00:0.00,1.00:0.00,1.00:55,64:68.6,96.3:0,4:0,0:141,92:9,57:2,20:-,NM_178134.2(CYP4Z1) c.1201+11_1201+13delTTT:-,NOT_FOUND:-,NOT_FOUND 1 47571996 rs4926804 T C 133 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4048,C/0.5952;PC=0.001;Gene=CYP4Z1/NM_178134.2/1;CC=c.1201+63T>C;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:13:0:0:36:1157:132.77:27.30:105.47:1.00:1.00:1.00:60:91.5:0:0:125:22:18:NM_178134.2(CYP4Z1) c.1201+63T>C,NM_178134.2(CYP4Z1) c.1201+63T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 47572046 rs4926805 C T 46 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.4071,T/0.5929;PC=0.021;Gene=CYP4Z1/NM_178134.2/1;CC=c.1201+113C>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:1:0:0:13:398:45.97:1.94:44.03:1.00:1.00:1.00:60:61.9:0:0:80:71:33:NM_178134.2(CYP4Z1) c.1201+113C>T,NM_178134.2(CYP4Z1) c.1201+113C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47581122 rs7547893 A T 90 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.4189,T/0.5811;PC=0.002;Gene=CYP4Z1/NM_178134.2/1;CC=c.1202-79A>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:21:0:0:25:782:90.07:77.08:13.00:1.00:1.00:1.00:60:38.8:0:0:44:107:27:NM_178134.2(CYP4Z1) c.1202-79A>T,NM_178134.2(CYP4Z1) c.1202-79A>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 47581139 rs543056245 GA G 7 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=14;PC=0.001;Gene=CYP4Z1/NM_178134.2/1;CC=c.1202-51delA;VC=Intron;DM=CYP4Z1/p450;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,GA,I,G:31:28:2:3:2,25,1,3:39,804,63,102:1.89,0.00,1.83,7.48:-0.60,0.00,0.84,7.63:2.49,0.00,0.99,-0.15:0.00,0.00,0.00,0.41:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.50:60,60,60,60:45.5,39.6,55.0,32.7:1,0,1,0:0,0,0,0:28,50,31,93:118,100,119,58:1,31,21,1:-,NM_178134.2(CYP4Z1) c.1202-61delA:-,NOT_FOUND:-,NOT_FOUND 1 47581266 . G . . NT END=47582321;NT GT ./. 1 47582195 rs10890464 G A 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4065,A/0.5935;Gene=CYP4Z1/NM_178134.2/1;CC=c.1267-127G>A;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:439:50.92:50.92:0.00:1.00:1.00:0.00:60:64.2:0:0:59:90:46:NM_178134.2(CYP4Z1) c.1267-127G>A,NM_178134.2(CYP4Z1) c.1267-127G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 47582242 rs56709867 ATTTCGT A 28 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=ATTTCGT/0.5911,A/0.4089;DB;DBA=NA;PAF=ATTTCGT/0.5911,A/0.4089;NP=389;PC=0.015;Gene=CYP4Z1/NM_178134.2/1;CC=c.1267-76_1267-71delCGTTTT;VC=Intron;DM=CYP4Z1/p450;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTTCGT,A:16:16:0:9:7,9:215,289:0.00,28.43:0.00,23.52:0.00,4.91:0.00,1.00:0.00,1.00:0.00,0.96:60,60:96.6,52.2:0,0:0,0:59,57:92,94:42,27:-,NM_178134.2(CYP4Z1) c.1267-79_1267-74delTTTCGT:-,NOT_FOUND:-,NOT_FOUND 1 47582246 rs1295463 C T 21 sb;idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3994,G/.,T/0.6006;PC=0.006;Gene=CYP4Z1/NM_178134.2/1;CC=c.1267-76C>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,T:7:7:0:9:1,6:7,190:0.41,21.46:0.41,19.60:0.00,1.85:0.00,1.00:0.00,1.00:0.00,0.90:60,60:217.0,78.2:0,0:0,0:63,62:88,87:0,50:NM_178134.2(CYP4Z1) c.1267-76C>T,NM_178134.2(CYP4Z1) c.1267-76C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 47582292 rs10890465 T G 100 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4065,G/0.5935;Gene=CYP4Z1/NM_178134.2/1;CC=c.1267-30T>G;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:23:0:0:26:880:100.40:71.87:28.53:1.00:1.00:1.00:60:48.1:0:0:44:103:25:NM_178134.2(CYP4Z1) c.1267-30T>G,NM_178134.2(CYP4Z1) c.1267-30T>G:0.57,0.57:0.389846,0.389846 1 47582405 . G . . NT END=47583437;NT GT ./. 1 47583284 rs6664392 G A 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4065,A/0.5935;PC=0.044;Gene=CYP4Z1/NM_178134.2/1;CC=c.1350-154G>A;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:391:44.82:44.82:0.00:1.00:1.00:0.00:60:49.9:0:0:47:102:39:NM_178134.2(CYP4Z1) c.1350-154G>A,NM_178134.2(CYP4Z1) c.1350-154G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 47583321 rs529211847 G GA 29 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.638,GA/0.362;DB;DBA=NA;PAF=G/0.638,GA/0.362;DB;DBA=NA;PAF=G/0.638,GA/0.362;NP=357;PC=0.005;Gene=CYP4Z1/NM_178134.2/1;CC=c.1350-108dupA;VC=Intron;DM=CYP4Z1/p450;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:17:18:10:0:8,9:243,328:0.00,28.89:0.00,28.89:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:55.5,43.7:0,1:0,0:83,52:67,98:48,25:-,NM_178134.2(CYP4Z1) c.1350-117_1350-116insA:-,NOT_FOUND:-,NOT_FOUND 1 47583415 rs6664496 G T 205 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.4065,T/0.5935;PC=0.004;Gene=CYP4Z1/NM_178134.2/1;CC=c.1350-23G>T;VC=Intron;DM=CYP4Z1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:G,T:59:53:0:0:2,57:23,1809:0.00,204.71:0.00,159.98:0.00,44.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:60.0,36.5:0,0:0,0:72,37:78,109:61,23:NM_178134.2(CYP4Z1) c.1350-23G>T,NM_178134.2(CYP4Z1) c.1350-23G>T:0.57,0.57:0.389205,0.389205 1 47583607 . T . . NT END=47603157;NT GT ./. 1 47602879 rs11581909 C A 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6639,A/0.3361;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:320:36.76:36.76:0.00:1.00:1.00:0.00:60:81.6:0:0:29:122:23:NM_001010969.2(CYP4A22) c.-51-u228C>A,NM_001010969.2(CYP4A22) c.-51-u228C>A:0.3,0.3:NOT_FOUND,NOT_FOUND 1 47602943 rs11578285 G A 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6556,A/0.3444 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:0:14:406:47.19:47.19:0.00:1.00:1.00:0.00:60:66.0:0:0:67:84:17:NM_001010969.2(CYP4A22) c.-51-u164G>A,NM_001010969.2(CYP4A22) c.-51-u164G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 47603033 rs397691612 GT G 86 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=GT/0.4197,G/0.5803;DB;DBA=NA;PAF=GT/0.4197,G/0.5803;NP=1530;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:GT,G:25:25:0:24:1,24:10,761:0.00,85.99:0.00,85.99:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:112.0,15.0:1,0:0,0:72,61:79,88:0,24:NM_001010969.2(CYP4A22) c.-51-u73delT,NM_001010969.2(CYP4A22) c.-51-u73delT:0.54,0.54:NOT_FOUND,NOT_FOUND 1 47603353 . G . . NT END=47606451;NT GT ./. 1 47603926 rs4926918 G A 123 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.4077,A/0.5923;PC=0.002;Gene=CYP4A22/NM_001308102.1/0;CC=c.195+574G>A;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.195+574G>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:23:0:0:34:1065:122.66:59.97:62.70:1.00:1.00:1.00:60:40.2:0:0:97:53:28:NM_001010969.2(CYP4A22) c.195+574G>A,NM_001010969.2(CYP4A22) c.195+574G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47604009 rs4926919 T A 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.8504,A/0.1496;Gene=CYP4A22/NM_001308102.1/0;CC=c.195+657T>A;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.195+657T>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:20:2:0:0:11,1,8:387,6,280:38.32,-0.03,0.00:1.64,-0.01,0.00:36.68,-0.02,0.00:1.00,0.00,0.00:0.83,0.00,0.00:1.00,0.00,0.00:60,60,60:58.3,6.0,19.0:0,0,0:0,0,0:78,72,84:73,78,67:33,0,12:NM_001010969.2(CYP4A22) c.195+657T>A,-:0.13,-:NOT_FOUND,- 1 47606470 rs56258513 C A 261 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.9966,A/0.003395;NP=91;PC=0.549;Gene=CYP4A22/NM_001308102.1/0;CC=c.214C>A;ProtCh=p.L72I;VC=Missense;Gene=CYP4A22/NM_001010969.3/1;CC=c.214C>A;ProtCh=p.L72I;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:159:127:0:0:82,76,1:2692,2445,13:260.85,0.00,-0.07:161.63,0.00,-0.00:99.22,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.0,9.9,26.0:0,0,0:0,0,0:63,65,148:84,83,2:31,23,0:NM_001010969.2(CYP4A22) c.214C>A (p.Leu72Ile),-:0.0046,-:0.008842,- 1 47606594 . G . . NT END=47607242;NT GT ./. 1 47606838 rs4926574 G A 50 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6641,A/0.3359;Gene=CYP4A22/NM_001308102.1/0;CC=c.337+245G>A;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.337+245G>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:1:0:0:14:434:50.02:3.78:46.24:1.00:1.00:1.00:60:44.3:0:0:124:25:20:NM_001010969.2(CYP4A22) c.337+245G>A,NM_001010969.2(CYP4A22) c.337+245G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 47607281 rs12564525 C T 302 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.6288,T/0.3712;PC=1.000;Gene=CYP4A22/NM_001308102.1/0;CC=c.376C>T;ProtCh=p.R126W;VC=Missense;Gene=CYP4A22/NM_001010969.3/1;CC=c.376C>T;ProtCh=p.R126W;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:81:55:0:0:1,80:14,2648:0.27,302.45:0.27,134.15:0.00,168.30:0.00,1.00:0.00,1.00:0.00,1.00:45,60:71.0,40.6:0,0:0,0:3,77:146,62:0,28:NM_001010969.2(CYP4A22) c.376C>T (p.Arg126Trp),NM_001010969.2(CYP4A22) c.376C>T (p.Arg126Trp):0.31,0.31:0.223051,0.223051 1 47607288 . G . . NT END=47607779;NT GT ./. 1 47607547 rs12404941 C G 86 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6635,G/0.3365;Gene=CYP4A22/NM_001308102.1/0;CC=c.383-233C>G;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.383-233C>G;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:11:0:0:23:749:85.87:38.44:47.42:1.00:1.00:1.00:60:48.3:0:0:61:89:38:NM_001010969.2(CYP4A22) c.383-233C>G,NM_001010969.2(CYP4A22) c.383-233C>G:0.29,0.29:NOT_FOUND,NOT_FOUND 1 47607641 rs11211465 C T 134 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6637,T/0.3363;Gene=CYP4A22/NM_001308102.1/0;CC=c.383-139C>T;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.383-139C>T;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:T:37:34:0:0:37:1167:134.34:123.51:10.83:1.00:1.00:1.00:60:55.0:0:0:66:85:36:NM_001010969.2(CYP4A22) c.383-139C>T,NM_001010969.2(CYP4A22) c.383-139C>T:0.29,0.29:NOT_FOUND,NOT_FOUND 1 47607762 rs2056901 T C 364 nt VT=SNV;PN=A;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.655,C/0.345;PC=0.002;Gene=CYP4A22/NM_001308102.1/0;CC=c.383-18T>C;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.383-18T>C;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:83:0:0:95:3189:364.11:254.90:109.22:1.00:1.00:1.00:60:89.6:0:0:62:86:32:NM_001010969.2(CYP4A22) c.383-18T>C,NM_001010969.2(CYP4A22) c.383-18T>C:0.3,0.3:0.218976,0.218976 1 47607785 rs2056900 G A 424 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.6637,A/0.3363,T/.;PC=1.000;Gene=CYP4A22/NM_001308102.1/0;CC=c.388G>A;ProtCh=p.G130S;VC=Missense;Gene=CYP4A22/NM_001010969.3/1;CC=c.388G>A;ProtCh=p.G130S;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:111:87:0:0:111:3707:423.52:265.74:157.78:1.00:1.00:1.00:60:87.3:0:0:61:86:36:NM_001010969.2(CYP4A22) c.388G>A (p.Gly130Ser),NM_001010969.2(CYP4A22) c.388G>A (p.Gly130Ser):0.29,0.29:0.210518,0.210518 1 47607851 rs2056899 A T 550 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.2692,T/0.7308;PC=0.997;Gene=CYP4A22/NM_001308102.1/0;CC=c.454A>T;ProtCh=p.N152Y;VC=Missense;Gene=CYP4A22/NM_001010969.3/1;CC=c.454A>T;ProtCh=p.N152Y;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:147:107:0:0:147:4805:550.33:300.05:250.28:1.00:1.00:1.00:60:69.2:0:0:66:81:35:NM_001010969.2(CYP4A22) c.454A>T (p.Asn152Tyr),NM_001010969.2(CYP4A22) c.454A>T (p.Asn152Tyr):0.68,0.68:0.542903,0.542903 1 47607908 . G . . NT END=47608940;NT GT ./. 1 47608197 rs2056898 A G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6552,G/0.3448;Gene=CYP4A22/NM_001308102.1/0;CC=c.510+290A>G;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.510+290A>G;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:333:38.51:0.00:38.51:1.00:0.00:1.00:60:43.3:0:0:100:51:18:NM_001010969.2(CYP4A22) c.510+290A>G,NM_001010969.2(CYP4A22) c.510+290A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 1 47608983 rs113777592 G T 722 lc VT=SNV;PN=G;NN=T;SST=Single;DP=205;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CYP4A22/NM_001308102.1/0;CC=c.553G>T;ProtCh=p.V185F;VC=Missense;Gene=CYP4A22/NM_001010969.3/1;CC=c.553G>T;ProtCh=p.V185F;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:205:158:0:0:1,204:33,6276:0.00,721.67:0.00,411.05:0.00,310.62:0.00,1.00:0.00,1.00:0.00,1.00:4,49:58.0,36.5:0,0:0,0:11,56:117,93:0,36:NM_001010969.2(CYP4A22) c.553G>T (p.Val185Phe),NM_001010969.2(CYP4A22) c.553G>T (p.Val185Phe):0.28,0.28:0.210506,0.210506 1 47609066 . G . . NT END=47609433;NT GT ./. 1 47609407 rs10890469 C T 148 nt VT=SNV;PN=G;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.8047,A/.,T/0.1953;Gene=CYP4A22/NM_001308102.1/0;CC=c.635+342C>T;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.636-27C>T;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:119:100:0:0:67,52:2156,1586:0.00,147.98:0.00,99.52:0.00,48.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.9,58.6:0,0:0,0:78,56:73,94:33,31:-,NM_001010969.2(CYP4A22) c.636-27C>T:-,0.17:-,0.14501 1 47609489 rs10789501 T C 641 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=T/0.4193,C/0.5807;PC=0.014;Gene=CYP4A22/NM_001308102.1/0;CC=c.635+424T>C;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.691T>C;ProtCh=p.C231R;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:185:123:0:0:185:5534:640.72:337.66:303.05:1.00:1.00:1.00:60:45.8:0:0:70:79:34:NM_001010969.2(CYP4A22) c.691T>C (p.Cys231Arg),NM_001010969.2(CYP4A22) c.691T>C (p.Cys231Arg):0.54,0.54:0.391665,0.391665 1 47609589 . G . . NT END=47610028;NT GT ./. 1 47609668 rs911909 T C 369 nt VT=SNV;PN=G;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.4203,C/0.5797;Gene=CYP4A22/NM_001308102.1/0;CC=c.636-361T>C;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.790+80T>C;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:104:32:0:0:2,102:18,3211:0.28,368.68:0.00,73.94:0.28,294.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:79.0,41.8:0,0:0,0:77,108:73,42:11,27:NM_001010969.2(CYP4A22) c.790+80T>C,NM_001010969.2(CYP4A22) c.790+80T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 47610065 rs149718343 A C 275 lc VT=SNV;PN=A;NN=G;SST=Single;DP=197;DB;DBA=NA;PAF=NA;PC=0.210;Gene=CYP4A22/NM_001308102.1/0;CC=c.672A>C;ProtCh=p.E224D;VC=Missense;Gene=CYP4A22/NM_001010969.3/1;CC=c.827A>C;ProtCh=p.K276T;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:197:150:0:0:106,91:3457,2905:0.00,274.73:0.00,144.51:0.00,130.23:0.00,1.00:0.00,1.00:0.00,1.00:60,56:10.0,36.0:0,0:0,0:56,68:83,73:22,33:-,NM_001010969.2(CYP4A22) c.827A>C (p.Lys276Thr):-,0.12:-,0.066662 1 47610136 . G . . NT END=47610221;NT GT ./. 1 47610293 rs968322 C T 70 lc VT=SNV;PN=A;NN=G;SST=Single;DP=300;DB;DBA=NA;PAF=NA;PC=0.040;Gene=CYP4A22/NM_001308102.1/0;CC=c.742+158C>T;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.969C>T;ProtCh=p.H323=;VC=Silent;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:300:204:0:0:269,31:8250,988:0.00,70.44:0.00,24.06:0.00,46.39:0.00,1.00:0.00,1.00:0.00,1.00:53,44:9.1,34.8:0,0:0,0:95,108:56,36:35,18:-,NM_001010969.2(CYP4A22) c.969C>T (p.(=)):-,0.27:-,NOT_FOUND 1 47610413 . G . . NT END=47610456;NT GT ./. 1 47610436 rs147000658 G C 338 nt VT=SNV;PN=G;NN=G;SST=Single;DP=246;DB;DBA=NA;PAF=NA;Gene=CYP4A22/NM_001308102.1/0;CC=c.743-21G>C;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.1088+24G>C;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:246:154:0:0:117,128,1:3565,3836,31:338.40,0.00,0.98:198.64,0.00,1.09:139.76,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:55,60,40:40.7,11.2,31.0:0,0,0:0,0,0:84,69,7:66,81,144:33,34,0:NM_001010969.2(CYP4A22) c.1088+24G>C,-:0.16,-:0.132312,- 1 47610643 . G . . NT END=47611537;NT GT ./. 1 47611164 rs741957 G A 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8504,A/0.1496;Gene=CYP4A22/NM_001308102.1/0;CC=c.929-374G>A;VC=Intron;Gene=CYP4A22/NM_001010969.3/1;CC=c.1223-374G>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:4:4:0:0:2,2:68,61:6.55,0.00:6.55,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:37.5,6.0:0,0:0,0:42,38:108,111:7,17:NM_001010969.2(CYP4A22) c.1223-374G>A,-:0.13,-:NOT_FOUND,- 1 47611598 rs2405599 T C 528 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.6242,C/0.3758;PC=1.000;Gene=CYP4A22/NM_001308102.1/0;CC=c.989T>C;ProtCh=p.L330P;VC=Missense;Gene=CYP4A22/NM_001010969.3/1;CC=c.1283T>C;ProtCh=p.L428P;VC=Missense;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:142:102:0:0:142:4605:528.02:295.75:232.27:1.00:1.00:1.00:60:41.8:0:0:78:72:33:NM_001010969.2(CYP4A22) c.1283T>C (p.Leu428Pro),NM_001010969.2(CYP4A22) c.1283T>C (p.Leu428Pro):0.31,0.31:0.234353,0.234353 1 47611603 . G . . NT END=47611748;NT GT ./. 1 47612186 rs144007744 G A 147 lc VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.9471,A/0.05292;Gene=CYP4A22/NM_001308102.1/0;CC=c.*357G>A;VC=3UTR;Gene=CYP4A22/NM_001010969.3/1;CC=c.1364+361G>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:101:55:0:0:50,51:1537,1733:147.06,0.00:54.60,0.00:92.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.4,18.5:0,0:0,0:63,79:83,71:30,39:NM_001010969.2(CYP4A22) c.1364+361G>A,-:0.04,-:NOT_FOUND,- 1 47612273 rs911904 G A 295 lc VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.6556,A/0.3444;Gene=CYP4A22/NM_001308102.1/0;CC=c.*444G>A;VC=3UTR;Gene=CYP4A22/NM_001010969.3/1;CC=c.1364+448G>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:53:0:0:78:2580:295.15:165.70:129.45:1.00:1.00:1.00:60:44.9:0:0:93:52:31:NM_001010969.2(CYP4A22) c.1364+448G>A,NM_001010969.2(CYP4A22) c.1364+448G>A:0.3,0.3:NOT_FOUND,NOT_FOUND 1 47612518 rs2301053 C T 138 lc VT=SNV;PN=C;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.8139,T/0.1861;Gene=CYP4A22/NM_001308102.1/0;CC=c.*689C>T;VC=3UTR;Gene=CYP4A22/NM_001010969.3/1;CC=c.1364+693C>T;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:108:75:0:0:1,61,46:11,1911,1478:-0.12,0.00,137.94:-0.03,0.00,79.09:-0.09,0.00,58.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:53,60,60:64.0,9.0,44.7:0,0,0:0,0,0:75,66,74:69,85,72:0,42,37:-,NM_001010969.2(CYP4A22) c.1364+693C>T:-,0.16:-,NOT_FOUND 1 47612672 rs911903 A G 522 lc VT=SNV;PN=T;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.4069,G/0.5931;Gene=CYP4A22/NM_001308102.1/0;CC=c.*843A>G;VC=3UTR;Gene=CYP4A22/NM_001010969.3/1;CC=c.1364+847A>G;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:139:93:0:0:139:4558:521.85:272.30:249.55:1.00:1.00:1.00:60:45.7:0:0:71:74:37:NM_001010969.2(CYP4A22) c.1364+847A>G,NM_001010969.2(CYP4A22) c.1364+847A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47612734 rs12029591 G A 147 lc VT=SNV;PN=C;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.8157,A/0.1843;Gene=CYP4A22/NM_001308102.1/0;CC=c.*905G>A;VC=3UTR;Gene=CYP4A22/NM_001010969.3/1;CC=c.1364+909G>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:131:79:0:0:49,82:1613,2609:147.05,0.00:74.83,0.00:72.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.0,33.9:0,0:0,0:92,71:59,79:33,37:NM_001010969.2(CYP4A22) c.1364+909G>A,-:0.16,-:NOT_FOUND,- 1 47612841 rs760442 G A 455 lc VT=SNV;PN=T;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.4191,A/0.5809;Gene=CYP4A22/NM_001308102.1/0;CC=c.*1012G>A;VC=3UTR;Gene=CYP4A22/NM_001010969.3/1;CC=c.1364+1016G>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:122:73:0:0:122:3969:454.83:198.59:256.24:1.00:1.00:1.00:60:42.8:0:0:67:77:32:NM_001010969.2(CYP4A22) c.1364+1016G>A,NM_001010969.2(CYP4A22) c.1364+1016G>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 47613062 rs760441 T A 220 lc VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.4069,A/0.5931;Gene=CYP4A22/NM_001308102.1/0;CC=c.*1233T>A;VC=3UTR;Gene=CYP4A22/NM_001010969.3/1;CC=c.1365-1212T>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:26:0:0:60:1911:219.58:67.51:152.07:1.00:1.00:1.00:60:37.5:0:0:74:75:32:NM_001010969.2(CYP4A22) c.1365-1212T>A,NM_001010969.2(CYP4A22) c.1365-1212T>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 47613077 . G . . NT END=47614273;NT GT ./. 1 47614063 rs11211466 T C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7937,C/0.2063;PC=0.001;Gene=CYP4A22/NM_001010969.3/1;CC=c.1365-211T>C;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,T:13:13:0:0:7,6:231,181:22.54,0.00:22.54,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:42,60:101.9,31.5:0,0:0,0:75,12:76,139:18,11:NM_001010969.2(CYP4A22) c.1365-211T>C,-:0.18,-:NOT_FOUND,- 1 47614092 rs11211467 T A 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.8011,A/0.1989;Gene=CYP4A22/NM_001010969.3/1;CC=c.1365-182T>A;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:20:0:0:10,10:274,243:26.12,0.00:26.12,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:42,60:112.0,34.8:0,0:0,0:84,30:66,120:37,16:NM_001010969.2(CYP4A22) c.1365-182T>A,-:0.17,-:NOT_FOUND,- 1 47614099 rs11211468 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7995,T/0.2005;Gene=CYP4A22/NM_001010969.3/1;CC=c.1365-175C>T;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:20:0:0:10,10:332,281:0.00,26.83:0.00,26.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,58:34.8,110.6:0,0:0,0:37,71:113,79:16,40:-,NM_001010969.2(CYP4A22) c.1365-175C>T:-,0.18:-,NOT_FOUND 1 47614185 rs760440 G C 199 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.4171,C/0.5829;PC=0.005;Gene=CYP4A22/NM_001010969.3/1;CC=c.1365-89G>C;VC=Intron;DM=CYP4A22/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:C:56:55:0:0:56:1728:199.21:179.92:19.28:1.00:1.00:1.00:60:45.8:0:0:42:108:25:NM_001010969.2(CYP4A22) c.1365-89G>C,NM_001010969.2(CYP4A22) c.1365-89G>C:0.52,0.52:NOT_FOUND,NOT_FOUND 1 47614434 rs4926600 C T 227 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=162;DB;DBA=NA;PAF=C/0.8474,T/0.1526;PC=0.694;Gene=CYP4A22/NM_001010969.3/1;CC=c.1525C>T;ProtCh=p.L509F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:162:89:0:0:85,77:2762,2390:0.00,227.03:0.00,82.40:0.00,144.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,38.0:0,0:0,0:86,69:63,76:35,27:-,NM_001010969.2(CYP4A22) c.1525C>T (p.Leu509Phe):-,0.13:-,0.076 1 47614470 . G . . NT END=47649642;NT GT ./. 1 47614621 rs11211469 A G 98 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.4145,G/0.5855 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A,G,T:30:1:0:0:1,28,1:13,868,12:0.00,98.21,0.37:0.00,1.82,0.00:0.00,96.38,0.37:0.00,1.00,0.00:0.00,0.95,0.00:0.00,1.00,0.00:27,60,27:78.0,55.5,82.0:0,0,0:0,0,0:21,106,16:128,42,132:0,20,0:chr1 g.47614620A>G (intergenic),chr1 g.47614620A>G (intergenic):0.51,0.51:NOT_FOUND,NOT_FOUND 1 47614664 rs10789502 A C 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2624,C/0.7376;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:0:0:0:16:499:57.47:0.00:57.47:1.00:0.00:1.00:48:78.3:0:0:98:50:27:chr1 g.47614663A>C (intergenic),chr1 g.47614663A>C (intergenic):0.67,0.67:NOT_FOUND,NOT_FOUND 1 47614743 rs114643922 A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:5:0:0:0:2,3:65,92:0.00,9.17:0.00,0.00:0.00,9.17:0.00,0.78:0.00,0.00:0.00,0.78:40,27:55.0,85.0:0,0:0,0:114,138:35,10:20,5:-,chr1 g.47614742A>G (intergenic):-,0.08:-,NOT_FOUND 1 47649716 . C . . NT END=47650673;NT GT ./. 1 47650770 . C . . NT END=47652990;NT GT ./. 1 47652870 . CCTTGAG C 21 nt VT=DEL;SST=Single;DP=12;NP=10;PC=0.001;Gene=PDZK1IP1/NM_005764.3/1;CC=c.176+115_176+120delCTCAAG;VC=Intron;DM=PDZK1IP1/MAP17;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:CCTTGAG,C:12:12:0:7:5,7:152,217:0.00,21.50:0.00,21.50:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.2,13.6:0,0:0,0:44,53:107,98:14,31:-,NM_005764.3(PDZK1IP1) c.176+115_176+120delCTCAAG:-,NOT_FOUND:-,NOT_FOUND 1 47652877 . C A 23 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;Gene=PDZK1IP1/NM_005764.3/1;CC=c.176+114G>T;VC=Intron;DM=PDZK1IP1/MAP17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:A,C:12:12:0:0:7,5:229,165:22.70,0.00:22.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:13.6,7.2:7,0:0,0:54,39:97,112:31,12:NM_005764.3(PDZK1IP1) c.176+114G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 47652879 rs60327556 T A 22 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4551,A/0.5449;Gene=PDZK1IP1/NM_005764.3/1;CC=c.176+112A>T;VC=Intron;DM=PDZK1IP1/MAP17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,T:12:12:0:0:7,5:219,140:21.70,0.00:21.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:13.6,7.2:7,0:0,0:56,41:95,110:31,12:NM_005764.3(PDZK1IP1) c.176+112A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 47653100 . C . . NT END=47655537;NT GT ./. 1 47655605 . G . . NT END=47685391;NT GT ./. 1 47655775 rs554819576 G A 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2;PC=0.134 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,G:10:0:0:0:3,7:81,229:6.87,0.00:0.00,0.00:6.87,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:57.7,1.9:0,0:0,0:77,96:72,55:23,32:NM_005764.3(PDZK1IP1) c.-167-u4C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 47685235 rs187224170 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.9994,G/0.000599;NP=1;Gene=TAL1/NM_001287347.2/0;CC=c.*157T>C;VC=3UTR;Gene=TAL1/NM_001290404.1/0;CC=c.*157T>C;VC=3UTR;Gene=TAL1/NM_001290405.1/0;CC=c.*157T>C;VC=3UTR;Gene=TAL1/NM_001290403.1/0;CC=c.*157T>C;VC=3UTR;Gene=TAL1/NM_001290406.1/0;CC=c.*157T>C;VC=3UTR;Gene=TAL1/NM_003189.5/1;CC=c.*157T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:29:0:0:19,10:613,293:0.00,25.96:0.00,25.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.6,30.5:0,0:0,0:27,57:118,93:23,23:-,NM_003189.2(TAL1) c.*157T>C:-,0.0014:-,NOT_FOUND 1 47685455 rs927462 T C 610 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=161;DB;DBA=NA;PAF=NA;NP=2999;PC=1.000;Gene=TAL1/NM_001287347.2/0;CC=c.933A>G;ProtCh=p.K311=;VC=Silent;Gene=TAL1/NM_001290404.1/0;CC=c.933A>G;ProtCh=p.K311=;VC=Silent;Gene=TAL1/NM_001290405.1/0;CC=c.933A>G;ProtCh=p.K311=;VC=Silent;Gene=TAL1/NM_001290403.1/0;CC=c.933A>G;ProtCh=p.K311=;VC=Silent;Gene=TAL1/NM_001290406.1/0;CC=c.456A>G;ProtCh=p.K152=;VC=Silent;Gene=TAL1/NM_003189.5/1;CC=c.933A>G;ProtCh=p.K311=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:161:122:0:0:161:5332:609.75:346.55:263.20:1.00:1.00:1.00:60:44.6:0:0:69:70:35:NM_003189.2(TAL1) c.933A>G (p.(=)),NM_003189.2(TAL1) c.933A>G (p.(=)):1,1:NOT_FOUND,NOT_FOUND 1 47685847 . C . . NT END=47689675;NT GT ./. 1 47689771 . C . . NT END=47691114;NT GT ./. 1 47689842 rs34087210 C G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6739,G/0.3261;Gene=TAL1/NM_001287347.2/0;CC=c.447-72G>C;VC=Intron;Gene=TAL1/NM_001290404.1/0;CC=c.447-72G>C;VC=Intron;Gene=TAL1/NM_001290405.1/0;CC=c.447-72G>C;VC=Intron;Gene=TAL1/NM_001290403.1/0;CC=c.447-72G>C;VC=Intron;Gene=TAL1/NM_001290406.1/0;CC=c.-31-72G>C;VC=Intron;Gene=TAL1/NM_003189.5/1;CC=c.447-72G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:8:0:0:13,14:442,405:0.00,39.02:0.00,5.03:0.00,33.99:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.6,38.1:0,0:0,0:126,104:25,46:24,31:-,NM_003189.2(TAL1) c.447-72G>C:-,0.34:-,NOT_FOUND 1 47689919 rs141182492 GAC G 9 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TAL1/NM_001287347.2/0;CC=c.447-151_447-150delGT;VC=Intron;Gene=TAL1/NM_001290404.1/0;CC=c.447-151_447-150delGT;VC=Intron;Gene=TAL1/NM_001290405.1/0;CC=c.447-151_447-150delGT;VC=Intron;Gene=TAL1/NM_001290403.1/0;CC=c.447-151_447-150delGT;VC=Intron;Gene=TAL1/NM_001290406.1/0;CC=c.-31-151_-31-150delGT;VC=Intron;Gene=TAL1/NM_003189.5/1;CC=c.447-151_447-150delGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,GAC,G:12:0:0:3:1,8,3:11,268,100:0.28,0.00,8.63:0.00,0.00,0.00:0.28,0.00,8.63:0.00,0.00,0.59:0.00,0.00,0.00:0.00,0.00,0.59:60,60,60:46.0,12.0,28.7:0,0,0:0,0,0:27,127,110:124,23,40:0,19,14:-,NM_003189.2(TAL1) c.447-151_447-150delGT:-,0.06:-,NOT_FOUND 1 47691561 . C . . NT END=47716807;NT GT ./. 1 47691568 rs552099098 GCAGA G 146 nt VT=DEL;SST=Single;DP=148;DB;DBA=NA;PAF=GCAGA/0.7274,G/0.2726;DB;DBA=NA;PAF=GCAGA/0.7274,G/0.2726;NP=1111;PC=0.046;Gene=TAL1/NM_001287347.2/0;CC=c.-1-11_-1-8delTCTG;VC=Intron;Gene=TAL1/NM_001290404.1/0;CC=c.-1-11_-1-8delTCTG;VC=Intron;Gene=TAL1/NM_001290405.1/0;CC=c.-1-11_-1-8delTCTG;VC=Intron;Gene=TAL1/NM_001290403.1/0;CC=c.-1-11_-1-8delTCTG;VC=Intron;Gene=TAL1/NM_001290406.1/0;CC=c.-31-1802_-31-1799delTCTG;VC=Intron;Gene=TAL1/NM_003189.5/1;CC=c.-1-11_-1-8delTCTG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GCAGA,G:148:59:0:53:1,95,52:11,3204,1624:-0.20,0.00,145.73:-0.08,0.00,40.12:-0.12,0.00,105.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:52.0,11.7,8.2:0,0,0:0,0,0:14,91,87:137,41,62:0,34,25:-,NM_003189.2(TAL1) c.-1-11_-1-8delTCTG:-,NOT_FOUND:-,0.402341 1 47717189 rs2758735 A G 127 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=A/0.6066,C/.,G/0.3934,T/.;Gene=STIL/NM_001048166.1/1;CC=c.3486T>C;ProtCh=p.P1162=;VC=Silent;Gene=STIL/NM_001282936.1/0;CC=c.3483T>C;ProtCh=p.P1161=;VC=Silent;Gene=STIL/NM_001282937.1/0;CC=c.3432T>C;ProtCh=p.P1144=;VC=Silent;Gene=STIL/NM_001282938.1/0;CC=c.3345T>C;ProtCh=p.P1115=;VC=Silent;Gene=STIL/NM_001282939.1/0;CC=c.3291T>C;ProtCh=p.P1097=;VC=Silent;Gene=STIL/NM_003035.2/0;CC=c.3483T>C;ProtCh=p.P1161=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:96:54:0:0:51,45:1707,1343:0.00,126.92:0.00,57.78:0.00,69.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,43.9:0,0:0,0:71,84:78,54:35,27:-,NM_001048166.1(STIL) c.3486T>C (p.(=)):-,0.41:-,0.408504 1 47717595 . C . . NT END=47725960;NT GT ./. 1 47726087 rs13376679 T C 128 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=103;DB;DBA=in-clinvar;PAF=T/0.8217,C/0.1783;PC=0.001;Gene=STIL/NM_001048166.1/1;CC=c.2954A>G;ProtCh=p.H985R;VC=Missense;Gene=STIL/NM_001282936.1/0;CC=c.2951A>G;ProtCh=p.H984R;VC=Missense;Gene=STIL/NM_001282937.1/0;CC=c.2900A>G;ProtCh=p.H967R;VC=Missense;Gene=STIL/NM_001282938.1/0;CC=c.2813A>G;ProtCh=p.H938R;VC=Missense;Gene=STIL/NM_001282939.1/0;CC=c.2759A>G;ProtCh=p.H920R;VC=Missense;Gene=STIL/NM_003035.2/0;CC=c.2951A>G;ProtCh=p.H984R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:103:68:0:0:44,59:1376,1982:128.00,0.00:62.73,0.00:65.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,4.3:0,0:0,0:77,58:69,84:38,30:NM_001048166.1(STIL) c.2954A>G (p.His985Arg),-:0.19,-:0.282639,- 1 47726212 . C . . NT END=47728574;NT GT ./. 1 47728789 . C . . NT END=47735306;NT GT ./. 1 47729034 rs2821092 T G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=STIL/NM_001048166.1/1;CC=c.2616-246A>C;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.2616-249A>C;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.2616-300A>C;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.2475-246A>C;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.2475-300A>C;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.2616-249A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:102:12.06:0.00:12.06:1.00:0.00:1.00:60:32.8:0:0:82:68:29:NM_001048166.1(STIL) c.2616-246A>C,NM_001048166.1(STIL) c.2616-246A>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 47735280 rs2742104 T C 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.6056,C/0.3944,G/.;Gene=STIL/NM_001048166.1/1;CC=c.2615+27A>G;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.2615+27A>G;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.2615+27A>G;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.2474+27A>G;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.2474+27A>G;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.2615+27A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:41:0:0:15,29:497,895:44.62,0.00:38.86,0.00:5.76,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:33.1,7.3:0,0:0,0:34,44:113,105:19,25:NM_001048166.1(STIL) c.2615+27A>G,-:0.41,-:0.40872,- 1 47735539 . C . . NT END=47737747;NT GT ./. 1 47737914 . C . . NT END=47745912;NT GT ./. 1 47746882 . C . . NT END=47748016;NT GT ./. 1 47746993 rs11211505 G A 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8159,A/0.1841;Gene=STIL/NM_001048166.1/1;CC=c.1249-112C>T;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.1249-112C>T;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.1249-112C>T;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.1108-112C>T;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.1108-112C>T;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.1249-112C>T;VC=Intron;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:27:2:0:0:12,1,13,1:388,13,400,10:36.99,0.27,0.00,0.08:1.51,-0.02,0.00,-0.02:35.48,0.29,0.00,0.10:1.00,0.00,0.00,0.00:0.74,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:54.9,27.0,8.7,29.0:0,0,0,0:0,0,0,0:85,60,82,111:65,90,69,-5:40,0,42,0:NM_001048166.1(STIL) c.1249-112C>T,-:0.19,-:NOT_FOUND,- 1 47747090 rs12145974 T C 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8153,C/0.1847;PC=0.085;Gene=STIL/NM_001048166.1/1;CC=c.1249-209A>G;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.1249-209A>G;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.1249-209A>G;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.1108-209A>G;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.1108-209A>G;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.1249-209A>G;VC=Intron;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:C,T:12:0:0:0:7,5:211,160:20.90,0.00:0.00,0.00:20.90,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.9,2.4:0,0:0,0:104,133:47,18:24,12:NM_001048166.1(STIL) c.1249-209A>G,-:0.19,-:NOT_FOUND,- 1 47748132 . C . . NT END=47753222;NT GT ./. 1 47753333 . C . . NT END=47755106;NT GT ./. 1 47753405 rs12125261 G A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6983,A/0.3017;PC=0.714;Gene=STIL/NM_001048166.1/1;CC=c.1024-73C>T;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.1024-73C>T;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.1024-73C>T;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.883-73C>T;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.883-73C>T;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.1024-73C>T;VC=Intron;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:5:0:0:16,11:521,378:51.81,0.00:8.73,0.00:43.07,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:34.8,0.5:0,0:0,0:97,86:53,65:36,38:NM_001048166.1(STIL) c.1024-73C>T,-:0.31,-:NOT_FOUND,- 1 47755258 . C . . NT END=47759129;NT GT ./. 1 47759217 . C . . NT END=47761436;NT GT ./. 1 47761521 . C . . NT END=47765576;NT GT ./. 1 47765490 rs9436838 T C 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.3864,C/0.6136;Gene=STIL/NM_001048166.1/1;CC=c.701+87A>G;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.701+87A>G;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.701+87A>G;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.560+87A>G;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.560+87A>G;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.701+87A>G;VC=Intron;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:30:0:0:19,13:618,394:61.46,0.00:56.95,0.00:4.50,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:37.8,6.9:0,0:0,0:43,43:107,107:25,17:NM_001048166.1(STIL) c.701+87A>G,-:0.61,-:NOT_FOUND,- 1 47765825 . C . . NT END=47767232;NT GT ./. 1 47767141 rs6689687 C A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3864,A/0.6136;PC=0.001;Gene=STIL/NM_001048166.1/1;CC=c.453+92G>T;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.453+92G>T;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.453+92G>T;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.453+92G>T;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.453+92G>T;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.453+92G>T;VC=Intron;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:18:18:0:0:9,9:248,270:23.61,0.00:20.18,0.00:3.43,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:39.7,19.7:0,0:0,0:57,72:94,79:19,24:NM_001048166.1(STIL) c.453+92G>T,-:0.61,-:NOT_FOUND,- 1 47767421 . C . . NT END=47767905;NT GT ./. 1 47767914 rs3125630 G A 57 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=G/0.3936,A/0.6064;PC=1.000;Gene=STIL/NM_001048166.1/1;CC=c.257C>T;ProtCh=p.A86V;VC=Missense;Gene=STIL/NM_001282936.1/0;CC=c.257C>T;ProtCh=p.A86V;VC=Missense;Gene=STIL/NM_001282937.1/0;CC=c.257C>T;ProtCh=p.A86V;VC=Missense;Gene=STIL/NM_001282938.1/0;CC=c.257C>T;ProtCh=p.A86V;VC=Missense;Gene=STIL/NM_001282939.1/0;CC=c.257C>T;ProtCh=p.A86V;VC=Missense;Gene=STIL/NM_003035.2/0;CC=c.257C>T;ProtCh=p.A86V;VC=Missense;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:31:0:0:19,21:596,727:56.64,0.00:33.97,0.00:22.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,4.3:0,0:0,0:33,68:104,81:19,28:NM_001048166.1(STIL) c.257C>T (p.Ala86Val),-:0.61,-:0.593111,- 1 47768019 . C . . NT END=47770560;NT GT ./. 1 47770441 rs3122615 A C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3934,C/0.6066;Gene=STIL/NM_001048166.1/1;CC=c.152+120T>G;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.152+120T>G;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.152+120T>G;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.152+120T>G;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.152+120T>G;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.152+120T>G;VC=Intron;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N;DM=STIL/STIL_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,C:7:7:0:0:3,4:101,138:0.00,13.63:0.00,13.63:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:0.0,37.2:0,0:0,0:71,50:80,100:5,24:-,NM_001048166.1(STIL) c.152+120T>G:-,0.6:-,NOT_FOUND 1 47770669 . C . . NT END=47775947;NT GT ./. 1 47770786 rs6692734 T A 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6987,A/0.3013;PC=0.001;Gene=STIL/NM_001048166.1/1;CC=c.45-118A>T;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.45-118A>T;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.45-118A>T;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.45-118A>T;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.45-118A>T;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.45-118A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,T:10:0:0:0:3,7:76,235:6.37,0.00:0.00,0.00:6.37,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:28.3,35.6:0,0:0,0:125,86:26,65:17,18:NM_001048166.1(STIL) c.45-118A>T,-:0.31,-:NOT_FOUND,- 1 47770806 rs200202421 T C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8203,C/0.1797;DB;DBA=NA;PAF=NA;PC=0.001;Gene=STIL/NM_001048166.1/1;CC=c.45-138A>G;VC=Intron;Gene=STIL/NM_001282936.1/0;CC=c.45-138A>G;VC=Intron;Gene=STIL/NM_001282937.1/0;CC=c.45-138A>G;VC=Intron;Gene=STIL/NM_001282938.1/0;CC=c.45-138A>G;VC=Intron;Gene=STIL/NM_001282939.1/0;CC=c.45-138A>G;VC=Intron;Gene=STIL/NM_003035.2/0;CC=c.45-138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:C,T:9:0:0:0:7,2:238,62:25.07,0.00:0.00,0.00:25.07,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.6,26.5:0,0:0,0:106,82:45,68:18,62:NM_001048166.1(STIL) c.45-138A>G,-:0.19,-:NOT_FOUND,- 1 47775992 . G . . NT END=47799617;NT GT ./. 1 47799436 rs60352530 G A 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8185,A/0.1815 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,G:16:16:0:0:10,6:306,151:30.85,0.00:30.85,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.6,27.8:0,0:0,0:47,94:103,57:16,47:NM_016308.2(CMPK1) c.-149-u33G>A,-:0.19,-:NOT_FOUND,- 1 47799639 rs7543016 G C 127 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.4036,C/0.5964;Gene=CMPK1/NR_046395.1/0;VC=NonCoding;Gene=CMPK1/NM_001136140.1/0;CC=c.22G>C;ProtCh=p.G8R;VC=Missense;Gene=CMPK1/NM_016308.2/1;CC=c.22G>C;ProtCh=p.G8R;VC=Missense;Gene=CMPK1/NR_046394.1/0;VC=NonCoding;DM=CMPK1/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:96:75:0:0:45,50,1:1339,1504,11:126.71,0.00,-0.09:76.85,0.00,0.00:49.86,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.8,14.6,34.0:0,0,0:0,0,0:64,52,97:84,91,54:29,33,0:NM_016308.2(CMPK1) c.22G>C (p.Gly8Arg),-:0.59,-:0.56907,- 1 47799789 . G . . NT END=47823969;NT GT ./. 1 47824248 rs3125646 C T 270 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.02296,T/0.977;PC=0.627;Gene=CMPK1/NR_046395.1/0;VC=NonCoding;Gene=CMPK1/NM_001136140.1/0;CC=c.172-14379C>T;VC=Intron;Gene=CMPK1/NM_016308.2/1;CC=c.172-9893C>T;VC=Intron;Gene=CMPK1/NR_046394.1/0;VC=NonCoding;DM=CMPK1/ADK;DM=CMPK1/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:42:0:0:74:2344:269.55:130.35:139.20:1.00:1.00:1.00:60:39.1:0:0:79:68:40:NM_016308.2(CMPK1) c.172-9893C>T,NM_016308.2(CMPK1) c.172-9893C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 47824400 rs2622902 C T 337 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.04553,T/0.9545;PC=0.004;Gene=CMPK1/NR_046395.1/0;VC=NonCoding;Gene=CMPK1/NM_001136140.1/0;CC=c.172-14227C>T;VC=Intron;Gene=CMPK1/NM_016308.2/1;CC=c.172-9741C>T;VC=Intron;Gene=CMPK1/NR_046394.1/0;VC=NonCoding;DM=CMPK1/ADK;DM=CMPK1/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:88:66:0:0:88:2955:337.42:205.79:131.63:1.00:1.00:1.00:60:40.8:0:0:86:64:39:NM_016308.2(CMPK1) c.172-9741C>T,NM_016308.2(CMPK1) c.172-9741C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 47824548 . T . . NT END=47834140;NT GT ./. 1 47824757 rs4926544 G A 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CMPK1/NM_001136140.1/0;CC=c.172-13870G>A;VC=Intron;Gene=CMPK1/NM_016308.2/1;CC=c.172-9384G>A;VC=Intron;Gene=CMPK1/NR_046394.1/0;VC=NonCoding;DM=CMPK1/ADK;DM=CMPK1/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:1:0:0:12,11:389,364:37.71,0.00:3.69,0.00:34.02,0.00:1.00,0.00:0.68,0.00:1.00,0.00:60,60:34.7,10.3:0,0:0,0:107,107:43,44:27,38:NM_016308.2(CMPK1) c.172-9384G>A,-:0.68,-:NOT_FOUND,- 1 47834288 . G . . NT END=47838626;NT GT ./. 1 47838497 . TG T 9 nt VT=DEL;SST=Single;DP=11;Gene=CMPK1/NM_001136140.1/0;CC=c.172-129delG;VC=Intron;Gene=CMPK1/NM_016308.2/1;CC=c.319-129delG;VC=Intron;Gene=CMPK1/NR_046394.1/0;VC=NonCoding;DM=CMPK1/ADK;DM=CMPK1/ADK;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:TG,T:11:11:0:4:7,4:227,99:0.00,8.67:0.00,8.67:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:26.7,29.8:0,0:0,0:41,114:110,36:25,25:-,NM_016308.2(CMPK1) c.319-129delG:-,NOT_FOUND:-,NOT_FOUND 1 47838780 . G . . NT END=47840580;NT GT ./. 1 47840658 . G . . NT END=47840868;NT GT ./. 1 47840966 . G . . NT END=47842375;NT GT ./. 1 47841038 rs397934907 G GA 14 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6975,GA/0.3025;DB;DBA=NA;PAF=G/0.6975,GA/0.3025;NP=1718;PC=0.966;Gene=CMPK1/NM_001136140.1/0;CC=c.498+80dupA;VC=Intron;Gene=CMPK1/NM_016308.2/1;CC=c.645+80dupA;VC=Intron;Gene=CMPK1/NR_046394.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:G,GA:10:1:5:0:5,5:168,150:0.00,14.37:0.00,1.59:0.00,12.79:0.00,0.95:0.00,0.67:0.00,0.95:60,60:3.6,9.0:0,0:0,0:131,121:20,30:10,11:-,NM_016308.2(CMPK1) c.645+73_645+74insA:-,0.32:-,NOT_FOUND 1 47842418 . T . . NT END=47881987;NT GT ./. 1 47842431 rs3125648 G A 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.04633,A/0.9537;PC=0.021;Gene=CMPK1/NM_001136140.1/0;CC=c.*14G>A;VC=3UTR;Gene=CMPK1/NM_016308.2/1;CC=c.*14G>A;VC=3UTR;Gene=CMPK1/NR_046394.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:13:0:0:24:788:90.18:26.98:63.20:1.00:1.00:1.00:60:35.6:0:0:104:41:20:NM_016308.2(CMPK1) c.*14G>A,NM_016308.2(CMPK1) c.*14G>A:0.96,0.96:0.947316,0.947316 1 47882497 rs34082359 C T 368 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=240;DB;DBA=NA;PAF=C/0.7214,T/0.2786;Gene=LINC01389/NR_126355.1/0;VC=NonCoding;Gene=FOXE3/NM_012186.2/1;CC=c.510C>T;ProtCh=p.A170=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:240:158:0:0:125,115:3810,3855:0.00,368.30:0.00,191.84:0.00,176.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,40.7:0,0:0,0:96,79:53,68:32,37:-,NM_012186.2(FOXE3) c.510C>T (p.(=)):-,0.27:-,0.313176 1 47882948 . G . . NT END=47903807;NT GT ./. 1 47883019 rs6666370 T C 215 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.2031,C/0.7969;Gene=LINC01389/NR_126355.1/0;VC=NonCoding;Gene=FOXE3/NM_012186.2/1;CC=c.*72T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C,T:61:20:0:0:60,1:1883,18:214.75,0.00:42.92,0.00:171.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.4,77.0:0,0:0,0:109,98:36,53:29,0:NM_012186.2(FOXE3) c.*72T>C,NM_012186.2(FOXE3) c.*72T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 47883024 rs2820969 A G 199 nt VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.005192,G/0.9948;Gene=LINC01389/NR_126355.1/0;VC=NonCoding;Gene=FOXE3/NM_012186.2/1;CC=c.*77A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:C,G:57:18:0:0:2,55:20,1743:0.57,199.49:0.34,35.39:0.23,164.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:119.5,72.0:0,0:0,0:124,99:26,48:15,27:NM_012186.2(FOXE3) c.*77A>G,NM_012186.2(FOXE3) c.*77A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 47904668 rs71053113 T TCCGCAC 537 PASS VT=INS;SST=Single;DP=248;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.03554,TCCGCAC/0.9645,TCCGCACCCGCAC/.;DB;DBA=NA;PAF=T/0.03554,TCCGCAC/0.9645;NP=377;Gene=FOXD2/NM_004474.3/1;CC=c.879_880insCCGCAC;ProtCh=p.H293_A294insPH;VC=InFrameIns;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCCGCAC:248:130:171:0:3,74,171:41,2043,5207:0.65,0.00,536.92:-0.01,0.00,208.49:0.66,0.00,328.43:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:75.7,25.1,10.0:0,3,0:0,0,0:36,125,73:115,19,75:3,13,30:-,NM_004474.3(FOXD2) c.874_879dupCCGCAC (p.Pro292_His293dup):-,0.9:-,0.905172 1 47904909 rs2405913 G C 586 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=162;DB;DBA=NA;PAF=G/0.0003994,C/0.9996;Gene=FOXD2/NM_004474.3/1;CC=c.1102G>C;ProtCh=p.A368P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:162:108:0:0:162:5093:586.35:291.81:294.54:1.00:1.00:1.00:60:37.9:0:0:57:90:33:NM_004474.3(FOXD2) c.1102G>C (p.Ala368Pro),NM_004474.3(FOXD2) c.1102G>C (p.Ala368Pro):1,1:NOT_FOUND,NOT_FOUND 1 47905296 . C . . NT END=48240841;NT GT ./. 1 47908308 . TTGTGTGTG T 6 idl,rn VT=DEL;SST=Single;DP=6;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TTGTGTGTG,T:4:4:0:4:2,2:69,126:0.00,6.45:0.00,3.31:0.00,3.14:0.00,0.89:0.00,0.81:0.00,0.86:60,60:0.0,29.0:0,2:0,0:96,36:38,113:15,0:-,chr1 g.47908309_47908316delTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 47922095 rs3125629 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4387,A/0.5613;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:4:0:0:3,1:105,33:10.95,0.00:5.48,0.00:5.48,0.00:0.85,0.00:0.85,0.00:0.85,0.00:60,60:49.7,0.0:0,0:0,0:118,22:20,43:6,0:chr1 g.47922094G>A (intergenic),-:0.55,-:NOT_FOUND,- 1 48054081 . GGT G 6 rn VT=DEL;SST=Single;DP=4;NP=3;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GGT,G:3:3:0:3:1,2:33,94:0.00,6.35:0.00,-0.20:0.00,6.55:0.00,0.51:0.00,0.89:0.00,0.51:60,60:34.0,0.0:0,1:0,0:134,63:17,71:0,44:-,chr1 g.48054082_48054083delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 48071690 . TCA T,TCACACACA 14 sb;idl,nt VT=INS;SST=Single;DP=7;NP=72;PC=0.136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:63:TCACACACA,T:7:7:5:3:5,2:130,67:14.41,6.56:12.54,3.28:1.87,3.28:0.98,0.00:0.98,0.00:0.98,0.00:60,60:26.2,4.5:0,0:0,0:39,45:110,86:22,36:chr1 g.48071691_48071692delCA (intergenic),chr1 g.48071691CA[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 48155684 rs397691380 T TCA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=152;NP=2;NP=2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:T,TCA:6:4:3:0:3,3:98,99:0.00,9.52:0.00,10.28:0.00,-0.75:0.00,0.73:0.00,0.51:0.00,0.89:60,60:29.0,0.0:0,0:0,0:77,22:73,129:25,17:-,chr1 g.48155684_48155685insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 48194589 rs546506829 CACACAA C 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CACACAA/0.6048,C/0.3952;DB;DBA=NA;PAF=CACACAA/0.6048,C/0.3952;NP=114;PC=0.023;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:CACACAA,C:6:3:0:3:3,3:104,101:0.00,9.72:0.00,8.84:0.00,0.88:0.00,0.73:0.00,0.89:0.00,0.51:60,70:58.0,0.0:1,0:0,0:141,46:2,98:3,13:-,chr1 g.48194590_48194595delACACAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 48208903 rs201823525 G C 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=43;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,G:4:2:0:0:2,2:69,64:6.65,0.00:3.43,0.00:3.22,0.00:0.51,0.00:0.79,0.00:0.89,0.00:60,43:125.5,127.5:0,0:0,0:124,55:20,38:10,54:chr1 g.48208902G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 48208907 rs200644541 G T 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:G,T:6:4:0:0:3,3:81,83:0.00,7.93:0.00,3.81:0.00,4.12:0.00,0.73:0.00,0.51:0.00,0.96:60,60:117.0,114.0:0,0:0,0:5,118:73,21:5,9:-,chr1 g.48208906G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 48208956 rs111162042 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:205:23.36:11.53:11.83:1.00:1.00:1.00:60:165.3:0:0:43:90:8:chr1 g.48208955C>T (intergenic),chr1 g.48208955C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 48209016 rs144994896 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5815,C/0.4185;NP=60;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,T:5:4:0:0:3,2:68,57:6.71,0.00:2.66,0.00:4.05,0.00:0.78,0.00:0.97,0.00:0.97,0.00:60,60:171.0,158.0:0,0:0,0:103,48:48,89:6,41:chr1 g.48209015T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 48209019 rs111204033 T A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.09405,A/0.906;NP=483;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,T:5:4:0:0:3,2:82,44:8.17,0.00:4.08,0.00:4.09,0.00:0.78,0.00:0.97,0.00:0.97,0.00:60,57:222.7,167.0:0,0:0,0:106,55:45,82:1,45:chr1 g.48209018T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 48209044 rs62648305 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=30;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,G:7:3:0:0:2,5:47,143:0.00,14.87:0.00,4.62:0.00,10.25:0.00,0.98:0.00,0.98:0.00,0.99:60,57:198.5,182.4:1,1:0,0:126,125:25,15:5,17:-,chr1 g.48209043A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 48241112 . C . . NT END=48244125;NT GT ./. 1 48244217 . C . . NT END=48260257;NT GT ./. 1 48260116 rs3738314 C T 121 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7384,T/0.2616;Gene=TRABD2B/NM_001194986.1/1;CC=c.988+142G>A;VC=Intron;DM=TRABD2B/TraB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:33:0:0:33:1049:120.63:120.63:0.00:1.00:1.00:0.00:60:37.8:0:0:52:99:27:NM_001194986.1(TRABD2B) c.988+142G>A,NM_001194986.1(TRABD2B) c.988+142G>A:0.3,0.3:NOT_FOUND,NOT_FOUND 1 48260433 . C . . NT END=48261307;NT GT ./. 1 48260462 rs370987577 G GT 27 idl,rn VT=INS;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=3;PC=0.994;Gene=TRABD2B/NM_001194986.1/1;CC=c.814-31dupA;VC=Intron;DM=TRABD2B/TraB;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:G,T,GT,D:69:27:15:13:49,2,12,6:1493,32,435,384:0.00,0.79,27.32,13.48:0.00,-0.14,2.08,4.27:0.00,0.93,25.24,9.20:0.00,0.00,1.00,0.00:0.00,0.00,0.96,0.00:0.00,0.00,1.00,0.00:60,60,60,60:20.3,113.0,45.4,40.2:0,1,3,7:0,0,0,0:120,97,89,105:23,49,55,46:20,24,24,14:-,NM_001194986.1(TRABD2B) c.814-31_814-30insA:-,NOT_FOUND:-,NOT_FOUND 1 48261224 rs7554917 G A 90 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.7384,A/0.2616;Gene=TRABD2B/NM_001194986.1/1;CC=c.814-792C>T;VC=Intron;DM=TRABD2B/TraB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:23:0:0:24:787:90.12:84.94:5.18:1.00:1.00:1.00:60:64.2:0:0:65:84:44:NM_001194986.1(TRABD2B) c.814-792C>T,NM_001194986.1(TRABD2B) c.814-792C>T:0.3,0.3:NOT_FOUND,NOT_FOUND 1 48261254 rs7554929 G A 118 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.7278,A/0.2722;Gene=TRABD2B/NM_001194986.1/1;CC=c.814-822C>T;VC=Intron;DM=TRABD2B/TraB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:29:0:0:32:1031:118.30:91.06:27.24:1.00:1.00:1.00:60:55.9:0:0:41:108:25:NM_001194986.1(TRABD2B) c.814-822C>T,NM_001194986.1(TRABD2B) c.814-822C>T:0.31,0.31:NOT_FOUND,NOT_FOUND 1 48261353 . C . . NT END=48267144;NT GT ./. 1 48261489 rs7528561 T C 104 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.7276,C/0.2724;PC=0.010;Gene=TRABD2B/NM_001194986.1/1;CC=c.814-1057A>G;VC=Intron;DM=TRABD2B/TraB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:6:0:0:28:902:103.50:11.38:92.12:1.00:1.00:1.00:60:35.8:0:0:105:44:33:NM_001194986.1(TRABD2B) c.814-1057A>G,NM_001194986.1(TRABD2B) c.814-1057A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 1 48267292 . C . . NT END=48459705;NT GT ./. 1 48286454 rs56348753 CCACA C 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=88;PC=0.002;Gene=TRABD2B/NM_001194986.1/1;CC=c.667-19167_667-19164delTGTG;VC=Intron;DM=TRABD2B/TraB;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CCACA,C:3:4:0:3:1,2:35,101:0.00,6.85:0.00,3.27:0.00,3.58:0.00,0.51:0.00,0.51:0.00,0.79:60,60:34.0,7.0:0,1:0,0:115,45:36,90:0,16:-,NM_001194986.1(TRABD2B) c.667-19167_667-19164delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 48312566 rs11211618 A ACACG 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.010;Gene=TRABD2B/NM_001194986.1/1;CC=c.667-45276_667-45275insCGTG;VC=Intron;DM=TRABD2B/TraB;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,ACACG:5:5:3:0:2,3:70,96:0.00,9.57:0.00,4.78:0.00,4.78:0.00,0.78:0.00,0.78:0.00,0.78:60,70:37.5,21.0:1,0:0,0:103,55:39,71:28,3:-,NM_001194986.1(TRABD2B) c.667-45276_667-45275insCGTG:-,NOT_FOUND:-,NOT_FOUND 1 48460270 . C . . NT END=48462359;NT GT ./. 1 48462909 . A . . NT END=48688408;NT GT ./. 1 48555265 rs76197184 C T 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.899,T/0.101;PC=0.047 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:11:0:0:11,11:363,337:0.00,32.29:0.00,9.42:0.00,22.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.7,55.2:0,0:0,0:77,112:74,39:25,19:-,chr1 g.48555264C>T (intergenic):-,0.13:-,NOT_FOUND 1 48555320 rs4926510 G A 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2408,A/0.7592;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:3:0:0:16:501:57.66:7.95:49.71:1.00:1.00:1.00:60:51.8:0:0:107:43:26:chr1 g.48555319G>A (intergenic),chr1 g.48555319G>A (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 1 48688572 . T . . NT END=48690395;NT GT ./. 1 48690229 rs10788884 C A 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3686,A/0.6314;Gene=SLC5A9/NM_001011547.2/0;CC=c.163-167C>A;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.163-167C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:A:10:10:0:0:10:261:30.67:30.67:0.00:1.00:1.00:0.00:60:46.8:0:0:62:88:31:NM_001135181.1(SLC5A9) c.163-167C>A,NM_001135181.1(SLC5A9) c.163-167C>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 48690469 . T . . NT END=48694521;NT GT ./. 1 48694259 rs764656 T C 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8512,C/0.1488;Gene=SLC5A9/NM_001011547.2/0;CC=c.235-263T>C;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.235-263T>C;VC=Intron;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:215,233:20.62,0.00:20.62,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.0,7.3:0,0:0,0:21,78:130,73:7,21:NM_001135181.1(SLC5A9) c.235-263T>C,-:0.19,-:NOT_FOUND,- 1 48695133 . T . . NT END=48696271;NT GT ./. 1 48695417 rs212990 A G 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.01817,G/0.9818;NP=390;Gene=SLC5A9/NM_001011547.2/0;CC=c.504+286A>G;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.579+286A>G;VC=Intron;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:272:31.01:0.00:31.01:1.00:0.00:1.00:60:39.9:0:0:101:49:24:NM_001135181.1(SLC5A9) c.579+286A>G,NM_001135181.1(SLC5A9) c.579+286A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 48696379 . T . . NT END=48697216;NT GT ./. 1 48697733 rs212991 T G 516 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=3468;PC=1.000;Gene=SLC5A9/NM_001011547.2/0;CC=c.807T>G;ProtCh=p.I269M;VC=Missense;Gene=SLC5A9/NM_001135181.1/1;CC=c.882T>G;ProtCh=p.I294M;VC=Missense;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:134:66:0:0:134:4520:515.70:188.72:326.97:1.00:1.00:1.00:60:53.3:0:0:99:50:32:NM_001135181.1(SLC5A9) c.882T>G (p.Ile294Met),NM_001135181.1(SLC5A9) c.882T>G (p.Ile294Met):1,1:0.999077,0.999077 1 48697751 rs61997212 C T 164 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=C/0.9341,T/0.06589;Gene=SLC5A9/NM_001011547.2/0;CC=c.825C>T;ProtCh=p.S275=;VC=Silent;Gene=SLC5A9/NM_001135181.1/1;CC=c.900C>T;ProtCh=p.S300=;VC=Silent;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:125:64:0:0:68,57:2157,1746:0.00,164.33:0.00,60.88:0.00,103.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.9,70.1:0,0:0,0:108,69:43,74:30,36:-,NM_001135181.1(SLC5A9) c.900C>T (p.(=)):-,0.09:-,0.141627 1 48697824 . G . . NT END=48698038;NT GT ./. 1 48698176 . T . . NT END=48699326;NT GT ./. 1 48699436 . T . . NT END=48701400;NT GT ./. 1 48699450 rs79196143 C T 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.994,T/0.00599;NP=99;Gene=SLC5A9/NM_001011547.2/0;CC=c.1141+16C>T;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.1216+16C>T;VC=Intron;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:20:0:0:22,31:709,994:0.00,98.53:0.00,26.69:0.00,71.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,43.5:0,0:0,0:88,105:54,40:30,24:-,NM_001135181.1(SLC5A9) c.1216+16C>T:-,0.01:-,0.017223 1 48699565 rs4926721 C T 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2534,T/0.7466;Gene=SLC5A9/NM_001011547.2/0;CC=c.1141+131C>T;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.1216+131C>T;VC=Intron;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:300:34.77:0.00:34.77:1.00:0.00:1.00:60:47.7:0:0:92:59:25:NM_001135181.1(SLC5A9) c.1216+131C>T,NM_001135181.1(SLC5A9) c.1216+131C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 48699731 rs10888600 C A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7308,A/0.2692;Gene=SLC5A9/NM_001011547.2/0;CC=c.1141+297C>A;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.1216+297C>A;VC=Intron;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:108:12.67:0.00:12.67:1.00:0.00:1.00:60:73.5:0:0:125:26:18:NM_001135181.1(SLC5A9) c.1216+297C>A,NM_001135181.1(SLC5A9) c.1216+297C>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 48701553 . T . . NT END=48703350;NT GT ./. 1 48703166 rs75574485 A G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.994,G/0.00599;NP=45;PC=0.001;Gene=SLC5A9/NM_001011547.2/0;CC=c.1293-185A>G;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.1368-185A>G;VC=Intron;DM=SLC5A9/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G:20:20:0:0:16,4:472,142:0.00,11.77:0.00,11.77:0.00,0.00:0.00,0.71:0.00,0.71:0.00,0.00:60,60:13.9,35.5:0,0:0,0:77,52:73,98:20,26:-,NM_001135181.1(SLC5A9) c.1368-185A>G:-,0.01:-,NOT_FOUND 1 48703521 . T . . NT END=48704993;NT GT ./. 1 48705211 . C . . NT END=48708128;NT GT ./. 1 48705391 rs11205459 G A 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.731,A/0.269;PC=0.001;Gene=SLC5A9/NM_001011547.2/0;CC=c.1677+182G>A;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.1752+182G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:351:41.13:0.00:41.13:1.00:0.00:1.00:60:50.3:0:0:94:56:27:NM_001135181.1(SLC5A9) c.1752+182G>A,NM_001135181.1(SLC5A9) c.1752+182G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 48707838 rs705430 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01837,G/0.9816;NP=315;Gene=SLC5A9/NM_001011547.2/0;CC=c.1678-291A>G;VC=Intron;Gene=SLC5A9/NM_001135181.1/1;CC=c.1753-291A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:140:16.38:16.38:0.00:1.00:1.00:0.00:60:34.8:0:0:17:133:16:NM_001135181.1(SLC5A9) c.1753-291A>G,NM_001135181.1(SLC5A9) c.1753-291A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 48708290 . T . . NT END=48713006;NT GT ./. 1 48713217 . T . . NT END=48764384;NT GT ./. 1 48713394 rs986027 C T 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3263,T/0.6737;Gene=SLC5A9/NM_001011547.2/0;CC=c.*179C>T;VC=3UTR;Gene=SLC5A9/NM_001135181.1/1;CC=c.*179C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:411:47.71:0.00:47.71:1.00:0.00:1.00:60:49.6:0:0:120:30:18:NM_001135181.1(SLC5A9) c.*179C>T,NM_001135181.1(SLC5A9) c.*179C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 48764419 rs1056042 C T 285 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.726,A/.,G/.,T/0.274;PC=1.000;Gene=SPATA6/NM_001286238.1/1;CC=c.1385G>A;ProtCh=p.C462Y;VC=Missense;Gene=SPATA6/NM_001286239.1/0;CC=c.1391G>A;ProtCh=p.C464Y;VC=Missense;Gene=SPATA6/NM_019073.3/0;CC=c.1433G>A;ProtCh=p.C478Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:78:61:0:0:78:2476:284.71:193.80:90.91:1.00:1.00:1.00:60:38.8:0:0:67:82:28:NM_019073.2(SPATA6) c.1433G>A (p.Cys478Tyr),NM_019073.2(SPATA6) c.1433G>A (p.Cys478Tyr):0.31,0.31:0.308781,0.308781 1 48764566 . C . . NT END=48771458;NT GT ./. 1 48771551 . C . . NT END=48821341;NT GT ./. 1 48821442 . C . . NT END=48825257;NT GT ./. 1 48825443 . C . . NT END=48850980;NT GT ./. 1 48851022 . C . . NT END=48860938;NT GT ./. 1 48861027 . C . . NT END=48865022;NT GT ./. 1 48865317 . C . . NT END=48866444;NT GT ./. 1 48866522 . T . . NT END=48869473;NT GT ./. 1 48869288 rs3738309 T A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7272,A/0.2728;Gene=SPATA6/NM_001286238.1/1;CC=c.486+186A>T;VC=Intron;Gene=SPATA6/NM_001286239.1/0;CC=c.444+186A>T;VC=Intron;Gene=SPATA6/NM_019073.3/0;CC=c.486+186A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:193:22.16:22.16:0.00:1.00:1.00:0.00:60:42.7:0:0:66:84:42:NM_019073.2(SPATA6) c.486+186A>T,NM_019073.2(SPATA6) c.486+186A>T:0.31,0.31:NOT_FOUND,NOT_FOUND 1 48869555 . C . . NT END=48877135;NT GT ./. 1 48877261 . C . . NT END=48878781;NT GT ./. 1 48878824 . C . . NT END=48917223;NT GT ./. 1 48901584 rs187543422 C G 70 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.9936,A/.,G/0.00639;NP=127;PC=0.425;Gene=SPATA6/NM_001286238.1/1;CC=c.238+15640G>C;VC=Intron;Gene=SPATA6/NM_001286239.1/0;CC=c.238+15640G>C;VC=Intron;Gene=SPATA6/NM_019073.3/0;CC=c.238+15640G>C;VC=Intron;DM=SPATA6/SPATA6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:37:0:0:19,22:616,718:0.00,70.02:0.00,45.70:0.00,24.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,39.9:0,0:0,0:65,64:85,86:28,30:-,NM_019073.2(SPATA6) c.238+15640G>C:-,0.01:-,NOT_FOUND 1 48902552 rs78784453 G A 304 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;PC=0.974;Gene=SPATA6/NM_001286238.1/1;CC=c.238+14672C>T;VC=Intron;Gene=SPATA6/NM_001286239.1/0;CC=c.238+14672C>T;VC=Intron;Gene=SPATA6/NM_019073.3/0;CC=c.238+14672C>T;VC=Intron;DM=SPATA6/SPATA6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:81:46:0:0:81:2656:304.05:153.62:150.44:1.00:1.00:1.00:60:42.9:0:0:81:69:28:NM_019073.2(SPATA6) c.238+14672C>T,NM_019073.2(SPATA6) c.238+14672C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 48902977 rs2261674 G C 244 nt VT=SNV;PN=C;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.01997,C/0.98;Gene=SPATA6/NM_001286238.1/1;CC=c.238+14247C>G;VC=Intron;Gene=SPATA6/NM_001286239.1/0;CC=c.238+14247C>G;VC=Intron;Gene=SPATA6/NM_019073.3/0;CC=c.238+14247C>G;VC=Intron;DM=SPATA6/SPATA6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:69:40:0:0:69:2110:243.74:127.21:116.53:1.00:1.00:1.00:50:38.1:0:0:64:87:37:NM_019073.2(SPATA6) c.238+14247C>G,NM_019073.2(SPATA6) c.238+14247C>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 48903464 rs144612305 C CT 90 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=32;PC=0.052;Gene=SPATA6/NM_001286238.1/1;CC=c.238+13759dupA;VC=Intron;Gene=SPATA6/NM_001286239.1/0;CC=c.238+13759dupA;VC=Intron;Gene=SPATA6/NM_019073.3/0;CC=c.238+13759dupA;VC=Intron;DM=SPATA6/SPATA6;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T,CT:31:9:27:0:4,1,26:139,34,860:0.00,2.32,89.85:0.00,-0.02,16.94:0.00,2.34,72.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.0,82.0,39.5:0,1,1:0,0,0:134,26,95:9,125,55:2,0,27:-,NM_019073.2(SPATA6) c.238+13759_238+13760insA:-,NOT_FOUND:-,NOT_FOUND 1 48903473 rs2254284 A T 109 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.07608,T/0.9239;NP=124;PC=0.047;Gene=SPATA6/NM_001286238.1/1;CC=c.238+13751T>A;VC=Intron;Gene=SPATA6/NM_001286239.1/0;CC=c.238+13751T>A;VC=Intron;Gene=SPATA6/NM_019073.3/0;CC=c.238+13751T>A;VC=Intron;DM=SPATA6/SPATA6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A,T:33:9:0:0:1,32:33,963:0.00,109.47:0.00,22.93:0.00,86.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,40.1:0,0:0,0:55,86:95,64:0,32:NM_019073.2(SPATA6) c.238+13751T>A,NM_019073.2(SPATA6) c.238+13751T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 48903569 rs71056668 GA G 18 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=5;PC=0.866;Gene=SPATA6/NM_001286238.1/1;CC=c.238+13654delT;VC=Intron;Gene=SPATA6/NM_001286239.1/0;CC=c.238+13654delT;VC=Intron;Gene=SPATA6/NM_019073.3/0;CC=c.238+13654delT;VC=Intron;DM=SPATA6/SPATA6;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:GA,G:8:1:0:8:2,6:67,234:0.00,18.23:0.00,-0.20:0.00,18.43:0.00,0.99:0.00,0.73:0.00,0.99:70,60:71.0,31.7:0,2:0,0:126,98:24,51:6,18:-,NM_019073.2(SPATA6) c.238+13654delT:-,NOT_FOUND:-,NOT_FOUND 1 48917273 . C . . NT END=48918665;NT GT ./. 1 48918804 . C . . NT END=48937629;NT GT ./. 1 48937681 . C . . NT END=48999844;NT GT ./. 1 48937691 rs2275309 A T 230 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.7266,T/0.2734;PC=0.309;Gene=SPATA6/NM_001286238.1/1;CC=c.-11T>A;VC=5UTR;Gene=SPATA6/NM_001286239.1/0;CC=c.-11T>A;VC=5UTR;Gene=SPATA6/NM_019073.3/0;CC=c.-11T>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:G,T:74:54:0:0:3,71:33,1977:1.14,229.90:0.32,116.86:0.82,113.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:96.0,46.3:0,0:0,0:88,88:63,57:25,18:NM_019073.2(SPATA6) c.-11T>A,NM_019073.2(SPATA6) c.-11T>A:0.31,0.31:0.288089,0.288089 1 48999555 rs2798111 T C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6779,C/0.3221;PC=0.001;Gene=AGBL4/NM_032785.3/1;CC=c.*290A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:8:8:0:0:3,5:99,135:9.03,0.00:9.03,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:40.0,19.2:0,0:0,0:74,17:77,133:23,12:NM_032785.3(AGBL4) c.*290A>G,-:0.32,-:NOT_FOUND,- 1 48999966 . C . . NT END=49000561;NT GT ./. 1 49000589 . c . . NT END=49005313;NT GT ./. 1 49005411 . C . . NT END=49052675;NT GT ./. 1 49012536 rs68082499 A C,AACACAC 10 idl;end,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=3;NP=32;NP=38;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:65:C,AACACAC:5:8:6:0:2,3:67,201:6.45,10.25:4.81,5.18:1.64,5.08:0.00,0.67:0.00,0.67:0.00,0.85:60,60:169.5,24.7:0,3:0,0:7,64:141,85:2,10:NM_032785.3(AGBL4) c.1268-7126T>G,NM_032785.3(AGBL4) c.1268-7127_1268-7126insGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 49052482 . G A 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;Gene=AGBL4/NM_032785.3/1;CC=c.1267+194C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,G:9:9:0:0:4,5:117,172:10.92,0.00:10.92,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:58.2,0.0:0,0:0,0:19,53:131,98:11,25:NM_032785.3(AGBL4) c.1267+194C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 49052839 . C . . NT END=49056504;NT GT ./. 1 49052933 rs2803277 T C 151 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.6563,C/0.3437;Gene=AGBL4/NM_032785.3/1;CC=c.1105-95A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C,T:47:5:0:0:46,1:1309,13:150.79,0.00:9.57,0.00:141.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.0,42.0:0,0:0,0:113,15:38,134:27,0:NM_032785.3(AGBL4) c.1105-95A>G,NM_032785.3(AGBL4) c.1105-95A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 1 49054328 rs57683318 A AGTGTGTGTGTGTGT 8 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5056,AGT/0.4944,AGTGTGTGT/.,AGTGTGTGTGT/.;NP=1;NP=12;NP=2;NP=431;PC=0.001;Gene=AGBL4/NM_032785.3/1;CC=c.1105-1491_1105-1490insACACACACACACAC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,AGTGTGTGTGTGTGT:8:8:4:0:5,3:171,117:0.00,8.22:0.00,2.93:0.00,5.29:0.00,0.64:0.00,0.94:0.00,0.89:60,60:4.0,30.3:0,1:0,0:98,51:29,95:8,7:-,NM_032785.3(AGBL4) c.1105-1491_1105-1490insACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 49056658 . C . . NT END=49100164;NT GT ./. 1 49056695 rs7543402 T C 181 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.6583,C/0.3417;Gene=AGBL4/NM_032785.3/1;CC=c.952-38A>G;VC=Intron;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C,G:56:16:0:0:55,1:1559,13:181.43,0.30:41.64,0.00:139.79,0.30:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,15.0:0,0:0,0:96,29:53,122:26,0:NM_032785.3(AGBL4) c.952-38A>G,NM_032785.3(AGBL4) c.952-38A>G:0.29,0.29:0.38448,0.38448 1 49056770 rs373275928 C CCA 41 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=AGBL4/NM_032785.3/1;CC=c.952-114_952-113insTG;VC=Intron;DM=AGBL4/Peptidase_M14;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCA:20:1:16:0:7,13:222,501:0.00,40.95:0.00,-0.18:0.00,41.13:0.00,1.00:0.00,0.71:0.00,1.00:60,60:77.7,59.4:0,3:0,0:104,76:43,74:41,23:-,NM_032785.3(AGBL4) c.952-114_952-113insTG:-,NOT_FOUND:-,NOT_FOUND 1 49056837 rs12123370 G A 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.75,A/0.25;PC=0.001;Gene=AGBL4/NM_032785.3/1;CC=c.952-180C>T;VC=Intron;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:0:0:0:16:514:58.98:0.00:58.98:1.00:0.00:1.00:60:56.9:0:0:99:46:32:NM_032785.3(AGBL4) c.952-180C>T,NM_032785.3(AGBL4) c.952-180C>T:0.23,0.23:NOT_FOUND,NOT_FOUND 1 49100277 . C . . NT END=49119008;NT GT ./. 1 49100332 rs319983 C T 136 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.604,T/0.396;Gene=AGBL4/NM_032785.3/1;CC=c.840-56G>A;VC=Intron;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G,T:37:14:0:0:1,36:11,1189:0.28,135.60:0.00,34.15:0.28,101.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:70.0,39.1:0,0:0,0:141,120:10,29:0,18:NM_032785.3(AGBL4) c.840-56G>A,NM_032785.3(AGBL4) c.840-56G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 1 49119124 . C . . NT END=49128823;NT GT ./. 1 49128720 rs320007 C T 100 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.5783,T/0.4217;Gene=AGBL4/NM_032785.3/1;CC=c.724+104G>A;VC=Intron;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:27:0:0:28:868:100.12:96.53:3.59:1.00:1.00:1.00:60:39.3:0:0:45:106:38:NM_032785.3(AGBL4) c.724+104G>A,NM_032785.3(AGBL4) c.724+104G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 49128914 . C . . NT END=49193557;NT GT ./. 1 49193394 rs1385152 G T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2294,T/0.7706;PC=0.776;Gene=AGBL4/NM_032785.3/1;CC=c.635-64481C>A;VC=Intron;Gene=BEND5/NM_001302082.1/0;CC=c.*164C>A;VC=3UTR;Gene=BEND5/NM_024603.3/1;CC=c.*164C>A;VC=3UTR;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:139:15.81:15.81:0.00:1.00:1.00:0.00:60:38.2:0:0:12:138:4:NM_032785.3(AGBL4) c.635-64481C>A,NM_032785.3(AGBL4) c.635-64481C>A:0.78,0.78:NOT_FOUND,NOT_FOUND 1 49193716 . C . . NT END=49201910;NT GT ./. 1 49201966 . C CT 17 rn VT=INS;SST=Single;DP=68;NP=24;PC=1.000;Gene=AGBL4/NM_032785.3/1;CC=c.635-73054dupA;VC=Intron;Gene=BEND5/NM_001302082.1/0;CC=c.545dupA;ProtCh=p.K183Efs*6;VC=FrameShiftIns;Gene=BEND5/NM_024603.3/1;CC=c.1052dupA;ProtCh=p.K352Efs*6;VC=FrameShiftIns;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,CT,D:67:59:8:1:59,7,1:2032,261,33:0.00,16.55,1.57:0.00,13.26,0.72:0.00,3.29,0.85:0.00,0.89,0.00:0.00,0.99,0.00:0.00,0.93,0.00:60,70,60:7.9,23.6,13.0:0,1,0:0,0,0:48,51,70:101,93,81:27,26,0:-,NM_024603.2(BEND5) c.1052dupA (p.Lys352Glufs*6):-,NOT_FOUND:-,NOT_FOUND 1 49202125 . C . . NT END=49208294;NT GT ./. 1 49202240 rs4926530 T C 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4175,C/0.5825;Gene=AGBL4/NM_032785.3/1;CC=c.635-73327A>G;VC=Intron;Gene=BEND5/NM_001302082.1/0;CC=c.388-116A>G;VC=Intron;Gene=BEND5/NM_024603.3/1;CC=c.895-116A>G;VC=Intron;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,T:15:0:0:0:14,1:378,26:42.87,0.00:0.00,0.00:42.87,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.4,153.0:0,0:0,0:100,133:50,18:29,0:NM_024603.2(BEND5) c.895-116A>G,NM_024603.2(BEND5) c.895-116A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 49208095 rs56653741 A AG 33 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4453,AG/0.5547;NP=1;NP=943;Gene=AGBL4/NM_032785.3/1;CC=c.635-79183_635-79182insC;VC=Intron;Gene=BEND5/NM_001302082.1/0;CC=c.387+199_387+200insC;VC=Intron;Gene=BEND5/NM_024603.3/1;CC=c.894+199_894+200insC;VC=Intron;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:AG:10:10:10:0:10:284:33.15:33.15:0.00:1.00:1.00:0.00:70:31.7:0:0:38:112:27:NM_024603.2(BEND5) c.894+199_894+200insC,NM_024603.2(BEND5) c.894+199_894+200insC:0.58,0.58:NOT_FOUND,NOT_FOUND 1 49208444 . C . . NT END=49224571;NT GT ./. 1 49208618 rs1934393 G C 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5489,C/0.4511;PC=0.802;Gene=AGBL4/NM_032785.3/1;CC=c.635-79705C>G;VC=Intron;Gene=BEND5/NM_001302082.1/0;CC=c.239-175C>G;VC=Intron;Gene=BEND5/NM_024603.3/1;CC=c.746-175C>G;VC=Intron;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:293:34.37:0.00:34.37:1.00:0.00:1.00:60:31.0:0:0:108:43:16:NM_024603.2(BEND5) c.746-175C>G,NM_024603.2(BEND5) c.746-175C>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 49224584 rs1128934 G T 316 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.3101,T/0.6899;PC=1.000;Gene=AGBL4/NM_032785.3/1;CC=c.635-95671C>A;VC=Intron;Gene=BEND5/NM_001302082.1/0;CC=c.226C>A;ProtCh=p.R76=;VC=Silent;Gene=BEND5/NM_024603.3/1;CC=c.733C>A;ProtCh=p.R245=;VC=Silent;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:83:75:0:0:83:2763:315.80:241.74:74.06:1.00:1.00:1.00:60:41.1:0:0:54:92:27:NM_024603.2(BEND5) c.733C>A (p.(=)),NM_024603.2(BEND5) c.733C>A (p.(=)):0.7,0.7:0.806089,0.806089 1 49225039 . C . . NT END=49227008;NT GT ./. 1 49227143 . C . . NT END=49242277;NT GT ./. 1 49242504 . G . . NT END=49332862;NT GT ./. 1 49332903 . C . . NT END=49511255;NT GT ./. 1 49333138 rs60430479 CA C 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CA/0.5627,C/0.4373;NP=147;Gene=AGBL4/NM_032785.3/1;CC=c.595-237delT;VC=Intron;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;DM=AGBL4/Peptidase_M14;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:2.5:0:0:84:65:42:NM_032785.3(AGBL4) c.595-237delT,NM_032785.3(AGBL4) c.595-237delT:0.42,0.42:NOT_FOUND,NOT_FOUND 1 49511424 rs3934240 A G 269 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.775,G/0.225;PC=1.000;Gene=AGBL4/NM_032785.3/1;CC=c.426T>C;ProtCh=p.H142=;VC=Silent;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:72:43:0:0:72:2346:268.80:127.00:141.80:1.00:1.00:1.00:60:34.3:0:0:80:67:31:NM_032785.3(AGBL4) c.426T>C (p.(=)),NM_032785.3(AGBL4) c.426T>C (p.(=)):0.21,0.21:0.176522,0.176522 1 49511473 . C . . NT END=49711441;NT GT ./. 1 49711537 . C . . NT END=50162948;NT GT ./. 1 50163110 . C . . NT END=50317067;NT GT ./. 1 50289450 rs6143217 A ATGTGTGTGTG 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=3;NP=54;PC=0.066;Gene=AGBL4/NM_032785.3/1;CC=c.157+27617_157+27618insCACACACACA;VC=Intron;DM=AGBL4/Peptidase_M14;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,ATGTGTGTGTG:5:6:4:0:2,3:64,127:0.00,9.83:0.00,8.34:0.00,1.49:0.00,0.73:0.00,0.73:0.00,0.89:60,60:0.0,29.0:0,1:0,0:94,50:29,100:30,13:-,NM_032785.3(AGBL4) c.157+27617_157+27618insCACACACACA:-,NOT_FOUND:-,NOT_FOUND 1 50310802 rs7533801 T C 122 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=3477;PC=0.003;Gene=AGBL4/NM_032785.3/1;CC=c.157+6266A>G;VC=Intron;DM=AGBL4/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:17:0:0:33:1066:122.33:59.93:62.41:1.00:1.00:1.00:60:41.1:0:0:79:65:48:NM_032785.3(AGBL4) c.157+6266A>G,NM_032785.3(AGBL4) c.157+6266A>G:1,1:NOT_FOUND,NOT_FOUND 1 50317191 . C . . NT END=50489434;NT GT ./. 1 50362280 rs555171880 AACAC A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=12;PC=0.456;Gene=AGBL4/NM_032785.3/1;CC=c.35-45094_35-45091delGTGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AACAC,A:4:4:0:3:2,2:67,98:0.00,6.41:0.00,6.53:0.00,-0.11:0.00,0.46:0.00,0.87:0.00,0.70:60,60:12.0,50.0:0,1:0,0:115,46:20,103:24,16:-,NM_032785.3(AGBL4) c.35-45094_35-45091delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 50436428 rs11308932 CA C 12 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CA/0.2626,C/0.7374;NP=421;PC=0.001;Gene=AGBL4/NM_032785.3/1;CC=c.34+53006delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:4:4:104:12.30:7.89:4.41:1.00:1.00:1.00:60:27.5:0:0:51:99:33:NM_032785.3(AGBL4) c.34+53006delT,NM_032785.3(AGBL4) c.34+53006delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 50476141 rs58330549 A AACAC 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=218;NP=4;NP=71;Gene=AGBL4/NM_032785.3/1;CC=c.34+13293_34+13294insGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,AACAC:7:6:4:0:3,4:98,128:0.00,12.63:0.00,8.15:0.00,4.48:0.00,0.90:0.00,0.99:0.00,0.97:60,60:4.0,0.0:0,0:0,0:123,31:25,99:6,11:-,NM_032785.3(AGBL4) c.34+13293_34+13294insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 50488286 . CCACACA C 10 rn VT=DEL;SST=Single;DP=5;NP=3;Gene=AGBL4/NM_032785.3/1;CC=c.34+1143_34+1148delTGTGTG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CCACACA,C:4:5:0:4:1,3:34,127:0.00,9.67:0.00,6.51:0.00,3.16:0.00,0.78:0.00,0.78:0.00,0.94:60,70:22.0,0.0:0,1:0,0:114,43:36,107:0,31:-,NM_032785.3(AGBL4) c.34+1143_34+1148delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 50489469 . T . . NT END=50513836;NT GT ./. 1 50513855 . G . . NT END=50569581;NT GT ./. 1 50569673 . G . . NT END=50571963;NT GT ./. 1 50572066 . G . . NT END=50574593;NT GT ./. 1 50572096 rs12138061 C A 188 nt VT=SNV;PN=C;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.7877,A/0.2123;PC=1.000;Gene=ELAVL4/NM_001144777.2/0;CC=c.19-38533C>A;VC=Intron;Gene=ELAVL4/NM_001144776.2/0;CC=c.9+2424C>A;VC=Intron;Gene=ELAVL4/NM_001144775.2/0;CC=c.117+31C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:15:0:0:52:1630:187.73:36.53:151.20:1.00:1.00:1.00:60:42.9:0:0:100:42:35:NM_001144775.1(ELAVL4) c.60+31C>A,NM_001144775.1(ELAVL4) c.60+31C>A:0.2,0.2:0.178155,0.178155 1 50574871 . G . . NT END=50575608;NT GT ./. 1 50575637 . G . . NT END=50610628;NT GT ./. 1 50610870 . G . . NT END=50642760;NT GT ./. 1 50642689 rs370190437 GCT G 10 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=9;PC=0.867;Gene=ELAVL4/NM_001144777.2/0;CC=c.260-57_260-56delCT;VC=Intron;Gene=ELAVL4/NM_001144776.2/0;CC=c.251-57_251-56delCT;VC=Intron;Gene=ELAVL4/NM_001144775.2/0;CC=c.359-57_359-56delCT;VC=Intron;Gene=ELAVL4/NM_001144774.2/0;CC=c.251-57_251-56delCT;VC=Intron;Gene=ELAVL4/NM_021952.4/0;CC=c.251-57_251-56delCT;VC=Intron;Gene=ELAVL4/NM_001294348.1/1;CC=c.266-57_266-56delCT;VC=Intron;DM=ELAVL4/RRM_1;DM=ELAVL4/RRM_1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:GCT,G:31:30:0:4:27,4:903,136:0.00,10.33:0.00,10.42:0.00,-0.09:0.00,0.64:0.00,0.95:0.00,0.37:60,60:6.0,9.2:0,0:0,0:47,66:104,84:23,25:-,NM_001144775.1(ELAVL4) c.302-71_302-70delCT:-,NOT_FOUND:-,NOT_FOUND 1 50642865 . G . . NT END=50659436;NT GT ./. 1 50659591 . G . . NT END=50661232;NT GT ./. 1 50661411 rs2480683 C T 493 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=136;DB;DBA=NA;PAF=C/0.1835,T/0.8165;PC=1.000;Gene=ELAVL4/NM_001144777.2/0;CC=c.696C>T;ProtCh=p.P232=;VC=Silent;Gene=ELAVL4/NM_001144776.2/0;CC=c.687C>T;ProtCh=p.P229=;VC=Silent;Gene=ELAVL4/NM_001144775.2/0;CC=c.795C>T;ProtCh=p.P265=;VC=Silent;Gene=ELAVL4/NM_001144774.2/0;CC=c.687C>T;ProtCh=p.P229=;VC=Silent;Gene=ELAVL4/NM_021952.4/0;CC=c.687C>T;ProtCh=p.P229=;VC=Silent;Gene=ELAVL4/NM_001294348.1/1;CC=c.702C>T;ProtCh=p.P234=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:136:75:0:0:1,1,134:11,12,4315:0.00,0.11,492.92:0.00,0.00,208.51:0.00,0.11,284.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.0,20.0,38.8:0,0,0:0,0,0:22,77,98:129,74,50:0,0,29:NM_001144775.1(ELAVL4) c.738C>T (p.(=)),NM_001144775.1(ELAVL4) c.738C>T (p.(=)):0.85,0.85:0.796632,0.796632 1 50661459 . G . . NT END=50663100;NT GT ./. 1 50661688 rs2480682 T C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1254,C/0.8746;Gene=ELAVL4/NM_001144777.2/0;CC=c.743+230T>C;VC=Intron;Gene=ELAVL4/NM_001144776.2/0;CC=c.734+230T>C;VC=Intron;Gene=ELAVL4/NM_001144775.2/0;CC=c.842+230T>C;VC=Intron;Gene=ELAVL4/NM_001144774.2/0;CC=c.734+230T>C;VC=Intron;Gene=ELAVL4/NM_021952.4/0;CC=c.734+230T>C;VC=Intron;Gene=ELAVL4/NM_001294348.1/1;CC=c.749+230T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:323:37.02:0.00:37.02:1.00:0.00:1.00:60:44.7:0:0:121:29:14:NM_001144775.1(ELAVL4) c.785+230T>C,NM_001144775.1(ELAVL4) c.785+230T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 50663140 . G . . NT END=50666480;NT GT ./. 1 50663196 . AT A 15 rn VT=DEL;SST=Single;DP=44;NP=33;PC=1.000;Gene=ELAVL4/NM_001144777.2/0;CC=c.782+69delT;VC=Intron;Gene=ELAVL4/NM_001144776.2/0;CC=c.773+69delT;VC=Intron;Gene=ELAVL4/NM_001144775.2/0;CC=c.881+69delT;VC=Intron;Gene=ELAVL4/NM_001144774.2/0;CC=c.773+69delT;VC=Intron;Gene=ELAVL4/NM_021952.4/0;CC=c.773+69delT;VC=Intron;Gene=ELAVL4/NM_001294348.1/1;CC=c.788+69delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:AT,I,A:44:17:2:7:35,2,7:1118,59,197:0.00,3.47,14.84:0.00,3.01,3.30:0.00,0.46,11.54:0.00,0.00,0.93:0.00,0.00,0.89:0.00,0.00,0.99:60,60,60:7.7,0.0,18.9:0,0,0:0,0,0:98,127,117:53,21,33:32,5,15:-,NM_001144775.1(ELAVL4) c.824+58delT:-,NOT_FOUND:-,0.048905 1 50666515 rs2494876 C T 396 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.3029,T/0.6971;PC=1.000;Gene=ELAVL4/NM_001144777.2/0;CC=c.783-8C>T;VC=Intron;Gene=ELAVL4/NM_001144776.2/0;CC=c.774-8C>T;VC=Intron;Gene=ELAVL4/NM_001144775.2/0;CC=c.882-8C>T;VC=Intron;Gene=ELAVL4/NM_001144774.2/0;CC=c.774-8C>T;VC=Intron;Gene=ELAVL4/NM_021952.4/0;CC=c.808C>T;ProtCh=p.P270S;VC=Missense;Gene=ELAVL4/NM_001294348.1/1;CC=c.789-8C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:113:84:0:0:113:3425:396.04:222.09:173.95:1.00:1.00:1.00:60:39.3:0:0:71:79:39:NM_001144775.1(ELAVL4) c.825-8C>T,NM_001144775.1(ELAVL4) c.825-8C>T:0.71,0.71:0.754113,0.754113 1 50666851 . A . . NT END=50884336;NT GT ./. 1 50792686 rs72688591 G A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9615,A/0.03854;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:8:0:0:0:5,3:143,104:14.34,0.00:0.00,0.00:14.34,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:49.4,6.3:0,0:0,0:126,81:25,70:14,19:chr1 g.50792685G>A (intergenic),-:0.05,-:NOT_FOUND,- 1 50871167 rs2484678 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4227,T/0.5773;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:166:18.98:13.37:5.62:1.00:1.00:1.00:60:47.2:0:0:35:116:20:chr1 g.50871166C>T (intergenic),chr1 g.50871166C>T (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 50871536 rs2784159 T C 53 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1949,C/0.8051;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:5:0:0:15:460:53.15:14.66:38.49:1.00:1.00:1.00:60:57.3:0:0:113:38:29:chr1 g.50871535T>C (intergenic),chr1 g.50871535T>C (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 1 50871575 rs2653907 T C 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1945,C/0.8055;PC=0.939 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:1:0:0:9:300:34.29:2.04:32.25:1.00:1.00:1.00:60:76.0:0:0:111:40:37:chr1 g.50871574T>C (intergenic),chr1 g.50871574T>C (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 1 50871649 rs2484677 G C 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.002196,C/0.9978;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:2:0:0:7:246:27.94:6.12:21.82:1.00:1.00:1.00:60:69.6:0:0:103:48:43:chr1 g.50871648G>C (intergenic),chr1 g.50871648G>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 50884230 rs1296714 G C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.1088,C/0.8912;PC=0.002;Gene=DMRTA2/NM_032110.2/1;CC=c.*107C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:34:0:0:17,17:525,450:50.47,0.00:50.47,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.6,15.6:0,0:0,0:24,26:127,125:11,18:NM_032110.2(DMRTA2) c.*107C>G,-:0.94,-:NOT_FOUND,- 1 50884778 rs2746610 G A 1472 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=398;DB;DBA=NA;PAF=NA;PC=0.909;Gene=DMRTA2/NM_032110.2/1;CC=c.1188C>T;ProtCh=p.A396=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:398:278:0:2:388,2,8:13040,23,237:1472.25,0.14,0.00:710.87,0.14,0.00:761.38,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.6,70.5,48.9:0,0,7:0,0,0:71,103,66:74,48,78:32,12,13:NM_032110.2(DMRTA2) c.1188C>T (p.(=)),NM_032110.2(DMRTA2) c.1188C>T (p.(=)):0.88,0.88:NOT_FOUND,NOT_FOUND 1 50885407 . C . . NT END=50886649;NT GT ./. 1 50887209 . G . . NT END=50907111;NT GT ./. 1 50896536 . TAC T 7 rn VT=DEL;SST=Single;DP=4;NP=3;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,TAC,T:4:3:0:3:1,1,2:14,33,67:1.15,0.00,6.75:-0.13,0.00,3.23:1.28,0.00,3.53:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.89:60,60,60:14.0,0.0,6.0:0,0,0:0,0,0:1,106,65:150,45,82:0,0,10:-,NM_032110.2(DMRTA2) c.-340-u7419_-340-u7418delGT:-,NOT_FOUND:-,NOT_FOUND 1 50907196 . C . . NT END=50917469;NT GT ./. 1 50907302 rs181128823 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=4;Gene=FAF1/NM_007051.2/1;CC=c.1870-107G>A;VC=Intron;DM=FAF1/UBX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:1:0:0:7,7:193,231:0.00,22.23:0.00,1.79:0.00,20.44:0.00,0.99:0.00,0.67:0.00,0.99:60,60:8.0,37.9:0,0:0,0:107,87:44,64:14,27:-,NM_007051.2(FAF1) c.1870-107G>A:-,0.0005:-,NOT_FOUND 1 50917596 rs12565493 T C 91 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.9539,C/0.04613;PC=0.143;Gene=FAF1/NM_007051.2/1;CC=c.1870-10401A>G;VC=Intron;DM=FAF1/UBX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:42:0:0:29,36:966,1131:91.02,0.00:48.89,0.00:42.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,4.7:0,0:0,0:64,67:82,77:27,36:NM_007051.2(FAF1) c.1870-10401A>G,-:0.04,-:NOT_FOUND,- 1 50917866 . c . . NT END=50941135;NT GT ./. 1 50941352 . C . . NT END=50956259;NT GT ./. 1 50956131 rs12098011 G A 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6136,A/0.3864;PC=0.001;Gene=FAF1/NM_007051.2/1;CC=c.1653+129C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:8:8:0:0:6,2:174,68:18.30,0.00:18.30,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.5,0.0:0,0:0,0:67,31:78,108:20,11:NM_007051.2(FAF1) c.1653+129C>T,-:0.37,-:NOT_FOUND,- 1 50956163 rs143167159 AAAGG A 18 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2206;PC=0.001;Gene=FAF1/NM_007051.2/1;CC=c.1653+93_1653+96delCCTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:AAAGG,A:16:16:0:6:10,6:301,198:0.00,18.08:0.00,18.08:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:30.3,0.0:0,0:0,0:64,28:86,123:42,1:-,NM_007051.2(FAF1) c.1653+93_1653+96delCCTT:-,NOT_FOUND:-,NOT_FOUND 1 50956212 rs74902190 C CAAATACAGTGG 68 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.012;Gene=FAF1/NM_007051.2/1;CC=c.1653+47_1653+48insCCACTGTATTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:C,CAAATACAGTGG:22:20:19:0:3,19:77,623:0.00,67.59:0.00,57.05:0.00,10.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.3,1.7:0,0:0,0:144,40:6,107:2,22:-,NM_007051.2(FAF1) c.1653+47_1653+48insCCACTGTATTT:-,NOT_FOUND:-,NOT_FOUND 1 50956338 . C . . NT END=50957392;NT GT ./. 1 50957474 . C . . NT END=51001040;NT GT ./. 1 50957509 rs1149790 A T 89 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.06609,T/0.9339;PC=0.840;Gene=FAF1/NM_007051.2/1;CC=c.1495-36T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:11:0:0:25:771:89.00:34.04:54.96:1.00:1.00:1.00:60:39.5:1:0:107:44:18:NM_007051.2(FAF1) c.1495-36T>A,NM_007051.2(FAF1) c.1495-36T>A:0.93,0.93:0.923728,0.923728 1 51001130 . C . . NT END=51005263;NT GT ./. 1 51005401 . C . . NT END=51032748;NT GT ./. 1 51032904 . C . . NT END=51048289;NT GT ./. 1 51048372 . C . . NT END=51049323;NT GT ./. 1 51049388 . C . . NT END=51050356;NT GT ./. 1 51050484 . C . . NT END=51061792;NT GT ./. 1 51061889 . C . . NT END=51078002;NT GT ./. 1 51078166 . T . . NT END=51121113;NT GT ./. 1 51121201 . C . . NT END=51171457;NT GT ./. 1 51157913 . CTG C 10 sb,rn VT=DEL;SST=Single;DP=5;NP=1;PC=0.001;Gene=FAF1/NM_007051.2/1;CC=c.657+13543_657+13544delCA;VC=Intron;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CTG,C:5:5:0:3:2,3:70,98:0.00,9.77:0.00,8.49:0.00,1.28:0.00,0.78:0.00,0.78:0.00,0.94:60,60:0.0,0.0:0,0:0,0:97,65:45,78:7,10:-,NM_007051.2(FAF1) c.657+13543_657+13544delCA:-,NOT_FOUND:-,NOT_FOUND 1 51171564 . C . . NT END=51204534;NT GT ./. 1 51204627 . C . . NT END=51210355;NT GT ./. 1 51210448 . C . . NT END=51253671;NT GT ./. 1 51253501 rs72690491 T G 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9934,G/0.006589;PC=0.012;Gene=FAF1/NM_007051.2/1;CC=c.367+171A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:G,T:12:12:0:0:6,6:183,198:17.55,0.00:17.55,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:32.0,8.7:0,0:0,0:98,33:52,116:25,30:NM_007051.2(FAF1) c.367+171A>C,-:0.01,-:NOT_FOUND,- 1 51253878 . C . . NT END=51267302;NT GT ./. 1 51267350 . C . . NT END=51323600;NT GT ./. 1 51292708 . G A 8 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;PC=0.153;Gene=FAF1/NM_007051.2/1;CC=c.115-25359C>T;VC=Intron;DM=FAF1/UBA_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:32:A,G:53:25:0:0:8,45:133,1410:7.51,0.00:-0.62,0.00:8.13,0.00:0.96,0.00:0.95,0.00:0.99,0.00:60,60:56.8,33.0:0,0:0,0:44,59:96,78:4,44:NM_007051.2(FAF1) c.115-25359C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 51323670 . C . . NT END=51425438;NT GT ./. 1 51425484 . G . . NT END=51436040;NT GT ./. 1 51435946 rs41285700 C T 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.9898,T/0.01018;PC=1.000;Gene=CDKN2C/NM_001262.2/1;CC=c.-11-84C>T;VC=Intron;Gene=CDKN2C/NM_078626.2/0;CC=c.-95C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:44:0:0:26,20:838,633:0.00,59.18:0.00,56.93:0.00,2.25:0.00,1.00:0.00,1.00:0.00,0.99:60,60:19.3,42.0:0,0:0,0:29,60:118,90:14,23:-,NM_001262.2(CDKN2C) c.-11-84C>T:-,0.01:-,NOT_FOUND 1 51436170 . G . . NT END=51439564;NT GT ./. 1 51439943 . A . . NT END=51442128;NT GT ./. 1 51442359 . G . . NT END=51443280;NT GT ./. 1 51443441 rs1341982 C T 205 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.6745,T/0.3255;PC=0.153 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:131:92:0:0:65,66:2015,2129:0.00,204.91:0.00,102.86:0.00,102.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,44.6:0,0:0,0:87,75:61,72:40,32:-,chr1 g.51443440C>T (intergenic):-,0.3:-,NOT_FOUND 1 51443672 . G . . NT END=51443852;NT GT ./. 1 51443983 . G . . NT END=51578135;NT GT ./. 1 51578242 . G . . NT END=51584337;NT GT ./. 1 51584474 . G . . NT END=51611395;NT GT ./. 1 51611227 rs17392154 T C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9665,C/0.03355;PC=0.015;Gene=C1orf185/NM_001136508.1/1;CC=c.259-169T>C;VC=Intron;DM=C1orf185/DUF4718;DM=C1orf185/DUF4718 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:7:7:0:0:4,3:135,95:13.33,0.00:13.33,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:33.8,0.0:0,0:0,0:49,88:101,63:14,6:NM_001136508.1(C1orf185) c.259-169T>C,-:0.04,-:NOT_FOUND,- 1 51611433 . G . . NT END=51613138;NT GT ./. 1 51613444 . C . . NT END=51702428;NT GT ./. 1 51702552 . G . . NT END=51735627;NT GT ./. 1 51718477 rs201629582 T TTGTGTG 9 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=6;NP=8;PC=0.019;Gene=RNF11/NM_014372.4/1;CC=c.123+15957_123+15958insGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:T,TTGTGTG:4:6:5:0:1,3:27,150:0.00,8.53:0.00,8.63:0.00,-0.10:0.00,0.73:0.00,0.73:0.00,0.79:60,60:0.0,102.3:0,2:0,0:67,56:84,89:0,23:-,NM_014372.4(RNF11) c.123+15926_123+15927insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 51735798 . G . . NT END=51736822;NT GT ./. 1 51736995 . G . . NT END=51753827;NT GT ./. 1 51753953 . C . . NT END=51754509;NT GT ./. 1 51754628 . C . . NT END=51755675;NT GT ./. 1 51755792 . C . . NT END=51756184;NT GT ./. 1 51756298 . C . . NT END=51760061;NT GT ./. 1 51760184 . C . . NT END=51761749;NT GT ./. 1 51761843 . C . . NT END=51767242;NT GT ./. 1 51767406 . C . . NT END=51768027;NT GT ./. 1 51768089 . C . . NT END=51768176;NT GT ./. 1 51768246 . C . . NT END=51768754;NT GT ./. 1 51768865 . C . . NT END=51770751;NT GT ./. 1 51770819 . C . . NT END=51771647;NT GT ./. 1 51771749 . C . . NT END=51774931;NT GT ./. 1 51775103 . C . . NT END=51776924;NT GT ./. 1 51776994 . C . . NT END=51777789;NT GT ./. 1 51777868 . C . . NT END=51778482;NT GT ./. 1 51778616 . C . . NT END=51787391;NT GT ./. 1 51787498 . C . . NT END=51787789;NT GT ./. 1 51787939 . C . . NT END=51795710;NT GT ./. 1 51788246 rs201608226 AAATGAATG A 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=25;PC=0.008;Gene=TTC39A/NM_001297664.1/1;CC=c.-40-757_-40-750delCATTCATT;VC=Intron;Gene=TTC39A/NM_001297663.1/0;CC=c.42-757_42-750delCATTCATT;VC=Intron;Gene=TTC39A/NM_001144832.2/0;CC=c.54-757_54-750delCATTCATT;VC=Intron;Gene=TTC39A/NM_001297662.1/0;CC=c.42-757_42-750delCATTCATT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AAATGAATG,A:3:0:0:3:1,2:32,98:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,0.0:0,1:0,0:138,85:13,64:0,7:-,NM_001144832.1(TTC39A) c.54-757_54-750delCATTCATT:-,NOT_FOUND:-,NOT_FOUND 1 51795875 . G . . NT END=51796108;NT GT ./. 1 51796235 . g . . NT END=51796824;NT GT ./. 1 51796983 . G . . NT END=51797003;NT GT ./. 1 51797509 . t . . NT END=51810662;NT GT ./. 1 51810716 . g . . NT END=51822371;NT GT ./. 1 51822519 . C . . NT END=51826842;NT GT ./. 1 51826921 rs17567 T C 80 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.7666,C/0.2334;PC=1.000;Gene=EPS15/NM_001159969.1/0;CC=c.1524A>G;ProtCh=p.I508M;VC=Missense;Gene=EPS15/NM_001981.2/1;CC=c.2466A>G;ProtCh=p.I822M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:36:0:0:24,23:823,737:79.61,0.00:54.39,0.00:25.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,12.4:0,0:0,0:87,88:60,54:28,42:NM_001981.2(EPS15) c.2466A>G (p.Ile822Met),-:0.23,-:0.326618,- 1 51827028 . C . . NT END=51829537;NT GT ./. 1 51829701 . C . . NT END=51831624;NT GT ./. 1 51829823 rs72694132 A C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.9898,C/0.01018;Gene=EPS15/NM_001159969.1/0;CC=c.1255-123T>G;VC=Intron;Gene=EPS15/NM_001981.2/1;CC=c.2197-123T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:28:1:0:0:16,12:493,396:0.00,37.00:0.00,1.80:0.00,35.19:0.00,1.00:0.00,0.62:0.00,1.00:60,60:12.1,38.9:0,0:0,0:109,101:41,49:19,14:-,NM_001981.2(EPS15) c.2197-123T>G:-,0.01:-,NOT_FOUND 1 51831463 rs370518918 TTAAC T 19 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TTAAC/0.9878,T/0.01218;DB;DBA=NA;PAF=TTAAC/0.9878,T/0.01218;NP=29;PC=0.156;Gene=EPS15/NM_001159969.1/0;CC=c.1254+158_1254+161delGTTA;VC=Intron;Gene=EPS15/NM_001981.2/1;CC=c.2196+158_2196+161delGTTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:TTAAC,T:10:10:0:6:4,6:132,190:0.00,18.94:0.00,18.94:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.0,18.5:0,0:0,0:41,29:109,121:17,14:-,NM_001981.2(EPS15) c.2196+158_2196+161delGTTA:-,0.01:-,NOT_FOUND 1 51831702 . C . . NT END=51860052;NT GT ./. 1 51860120 . C . . NT END=51864703;NT GT ./. 1 51864838 . C . . NT END=51866589;NT GT ./. 1 51866384 rs375748381 C CAAA 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;Gene=EPS15/NM_001159969.1/0;CC=c.976+205_976+206insTTT;VC=Intron;Gene=EPS15/NM_001981.2/1;CC=c.1918+205_1918+206insTTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,CAAA,D:6:7:4:1:2,3,1:65,129,23:0.00,9.44,1.80:0.00,9.44,1.80:0.00,0.00,0.00:0.00,0.69,0.00:0.00,0.69,0.00:0.00,0.00,0.00:60,60,60:17.5,36.7,0.0:0,1,0:0,0,0:118,11,115:32,138,36:26,2,0:-,NM_001981.2(EPS15) c.1918+205_1918+206insTTT:-,NOT_FOUND:-,NOT_FOUND 1 51866626 . C . . NT END=51868106;NT GT ./. 1 51868198 . C . . NT END=51869090;NT GT ./. 1 51869205 . C . . NT END=51871576;NT GT ./. 1 51871438 rs10529789 G GACTC 18 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.7658,GACTC/0.2342;NP=24;PC=0.001;Gene=EPS15/NM_001159969.1/0;CC=c.735+135_735+138dupGAGT;VC=Intron;Gene=EPS15/NM_001981.2/1;CC=c.1677+135_1677+138dupGAGT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GACTC:21:21:8:0:12,1,8:359,11,205:0.00,0.16,18.46:0.00,0.16,18.46:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:13.7,94.0,25.9:1,0,0:0,0,0:53,123,25:97,28,125:24,0,9:-,NM_001981.2(EPS15) c.1677+138_1677+139insGAGT:-,0.23:-,NOT_FOUND 1 51871781 . C . . NT END=51873806;NT GT ./. 1 51873951 rs1065754 G A 273 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.1773,A/0.8227;PC=0.111;Gene=EPS15/NM_001159969.1/0;CC=c.387C>T;ProtCh=p.Y129=;VC=Silent;Gene=EPS15/NM_001981.2/1;CC=c.1329C>T;ProtCh=p.Y443=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:72:39:0:0:72:2390:273.30:99.25:174.05:1.00:1.00:1.00:60:35.3:0:0:84:65:35:NM_001981.2(EPS15) c.1329C>T (p.(=)),NM_001981.2(EPS15) c.1329C>T (p.(=)):0.8,0.8:0.729279,0.729279 1 51874005 . C . . NT END=51875206;NT GT ./. 1 51875369 . C . . NT END=51887457;NT GT ./. 1 51887794 . A . . NT END=51888879;NT GT ./. 1 51888878 rs72696106 A G 100 nt VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.9898,G/0.01018;PC=0.852;Gene=EPS15/NM_001981.2/1;CC=c.1041-1348T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:57:0:0:33,31:1062,1042:0.00,99.71:0.00,69.06:0.00,30.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,40.9:0,0:0,0:62,50:82,99:35,28:-,NM_001981.2(EPS15) c.1041-1348T>C:-,0.01:-,NOT_FOUND 1 51889399 . A . . NT END=51906018;NT GT ./. 1 51896600 rs187761479 C T 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2;PC=0.064;Gene=EPS15/NM_001981.2/1;CC=c.1041-9070G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:8:7:0:0:3,5:102,151:0.00,15.14:0.00,12.29:0.00,2.85:0.00,0.97:0.00,1.00:0.00,0.95:60,60:2.7,44.2:0,0:0,0:36,116:115,34:8,7:-,NM_001981.2(EPS15) c.1041-9070G>A:-,0.0009:-,NOT_FOUND 1 51896683 rs547717824 CACACACACACACACACAA C 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=32;PC=0.013;Gene=EPS15/NM_001981.2/1;CC=c.1041-9171_1041-9154delTTGTGTGTGTGTGTGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:CACACACACACACACACAA,C:6:2:0:4:3,3:80,99:0.00,9.53:0.00,5.36:0.00,4.17:0.00,0.73:0.00,0.79:0.00,0.96:60,70:32.7,2.7:0,0:0,0:92,106:59,45:31,13:-,NM_001981.2(EPS15) c.1041-9171_1041-9154delTTGTGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 51905949 rs67312101 CTGTG C,CTGTGTG 13 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:103:CTGTG,CTGTGTG,C:9:9:4:6:1,4,4:35,134,161:0.00,13.50,12.90:0.00,11.76,9.42:0.00,1.74,3.48:0.00,0.84,0.00:0.00,0.98,0.00:0.00,0.70,0.00:60,60,60:36.0,21.5,21.8:0,0,1:0,0,0:138,41,25:13,101,126:0,26,5:NM_001981.2(EPS15) c.1040+66_1040+69delCACA,NM_001981.2(EPS15) c.1040+68_1040+69dupCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 51906105 . C . . NT END=51910560;NT GT ./. 1 51910718 . C . . NT END=51912631;NT GT ./. 1 51912778 . C . . NT END=51913606;NT GT ./. 1 51913808 . C . . NT END=51926762;NT GT ./. 1 51926631 rs75776274 GA G 8 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=20;Gene=EPS15/NM_001981.2/1;CC=c.561+131delT;VC=Intron;DM=EPS15/EF-hand_4;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:GA,I,G:12:13:3:4:6,3,3:204,84,120:0.00,7.24,7.54:0.00,7.24,7.54:0.00,0.00,0.00:0.00,0.00,0.58:0.00,0.00,0.58:0.00,0.00,0.00:60,60,60:2.0,73.3,23.0:0,0,1:0,0,0:78,67,13:71,84,137:51,11,2:-,NM_001981.2(EPS15) c.561+131delT:-,NOT_FOUND:-,NOT_FOUND 1 51926823 . C . . NT END=51929344;NT GT ./. 1 51926909 rs72696156 G A 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9914,A/0.008586;NP=97;PC=0.002;Gene=EPS15/NM_001981.2/1;CC=c.502-87C>T;VC=Intron;DM=EPS15/EF-hand_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:A,G:12:2:0:0:7,5:218,143:21.60,0.00:1.63,0.00:19.97,0.00:0.99,0.00:0.86,0.00:0.99,0.00:60,60:37.4,38.8:0,0:0,0:54,62:96,89:26,22:NM_001981.2(EPS15) c.502-87C>T,-:0.01,-:NOT_FOUND,- 1 51929471 . C . . NT END=51930932;NT GT ./. 1 51929504 rs5774101 TA T 56 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=TA/0.7538,T/0.2462;DB;DBA=NA;PAF=TA/0.7538,T/0.2462;NP=1375;PC=0.002;Gene=EPS15/NM_001981.2/1;CC=c.376-35delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:39:20:0:19:20,19:636,586:0.00,55.92:0.00,18.78:0.00,37.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,5.1:0,0:0,0:90,77:60,71:18,22:-,NM_001981.2(EPS15) c.376-35delT:-,0.25:-,NOT_FOUND 1 51930999 . C . . NT END=51934144;NT GT ./. 1 51934241 . C . . NT END=51937361;NT GT ./. 1 51937410 . C . . NT END=51938530;NT GT ./. 1 51938621 . C . . NT END=51946944;NT GT ./. 1 51946987 . C . . NT END=51984870;NT GT ./. 1 51984904 . G . . NT END=52082782;NT GT ./. 1 52082894 . G . . NT END=52117662;NT GT ./. 1 52117714 . G . . NT END=52135105;NT GT ./. 1 52135185 . G . . NT END=52179674;NT GT ./. 1 52179752 . G . . NT END=52195485;NT GT ./. 1 52179818 . G GT 8 rn VT=INS;SST=Single;DP=24;NP=7;Gene=OSBPL9/NM_024586.5/1;CC=c.318+79dupT;VC=Intron;Gene=OSBPL9/NM_148906.2/0;CC=c.267+79dupT;VC=Intron;Gene=OSBPL9/NM_148908.3/0;CC=c.318+79dupT;VC=Intron;Gene=OSBPL9/NM_148909.3/0;CC=c.318+79dupT;VC=Intron;Gene=OSBPL9/NR_036662.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,T,GT,D:23:6:4:1:18,1,3,1:536,10,128,25:0.00,-0.01,7.58,1.28:0.00,-0.07,2.64,-0.07:0.00,0.06,4.94,1.35:0.00,0.00,0.47,0.00:0.00,0.00,0.53,0.00:0.00,0.00,0.86,0.00:60,60,60,60:8.1,19.0,18.7,0.0:0,0,1,0:0,0,0,0:113,69,119,98:37,81,31,53:24,0,5,0:-,NM_148909.3(OSBPL9) c.318+67_318+68insT:-,NOT_FOUND:-,NOT_FOUND 1 52195797 . G . . NT END=52211207;NT GT ./. 1 52211304 . G . . NT END=52212381;NT GT ./. 1 52212430 . G . . NT END=52214040;NT GT ./. 1 52214071 . G . . NT END=52215816;NT GT ./. 1 52215868 . G . . NT END=52221991;NT GT ./. 1 52222031 . G . . NT END=52226361;NT GT ./. 1 52226453 . G . . NT END=52227538;NT GT ./. 1 52227644 . G . . NT END=52231493;NT GT ./. 1 52231654 . G . . NT END=52237741;NT GT ./. 1 52237855 . G . . NT END=52238276;NT GT ./. 1 52238396 . G . . NT END=52242504;NT GT ./. 1 52242591 . G . . NT END=52246835;NT GT ./. 1 52247008 . G . . NT END=52248230;NT GT ./. 1 52248316 . G . . NT END=52249586;NT GT ./. 1 52249698 . G . . NT END=52249935;NT GT ./. 1 52250000 . G . . NT END=52250113;NT GT ./. 1 52250255 . G . . NT END=52251479;NT GT ./. 1 52251559 . G . . NT END=52252197;NT GT ./. 1 52252290 . G . . NT END=52253024;NT GT ./. 1 52253161 . G . . NT END=52253386;NT GT ./. 1 52253462 . G . . NT END=52254907;NT GT ./. 1 52255106 . C . . NT END=52255239;NT GT ./. 1 52255330 . C . . NT END=52256204;NT GT ./. 1 52256322 . C . . NT END=52256571;NT GT ./. 1 52256663 . C . . NT END=52257249;NT GT ./. 1 52257334 . C . . NT END=52257717;NT GT ./. 1 52257771 . C . . NT END=52258048;NT GT ./. 1 52258097 . C . . NT END=52260143;NT GT ./. 1 52260283 . C . . NT END=52260494;NT GT ./. 1 52260881 . C . . NT END=52263920;NT GT ./. 1 52264084 . C . . NT END=52266227;NT GT ./. 1 52266242 rs8375 G A 227 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.511,A/0.489,C/.;Gene=NRDC/NM_001242361.1/0;CC=c.2235C>T;ProtCh=p.P745=;VC=Silent;Gene=NRDC/NM_001101662.1/0;CC=c.2427C>T;ProtCh=p.P809=;VC=Silent;Gene=NRDC/NM_002525.2/1;CC=c.2631C>T;ProtCh=p.P877=;VC=Silent;DM=NRDC/Peptidase_M16_M;DM=NRDC/Peptidase_M16_M;DM=NRDC/Peptidase_M16_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:A:58:49:0:0:58:1996:227.26:142.71:84.55:1.00:1.00:1.00:60:38.6:0:0:54:89:23:NM_002525.2(NRD1) c.2631C>T (p.(=)),NM_002525.2(NRD1) c.2631C>T (p.(=)):0.54,0.54:0.426649,0.426649 1 52266356 . C . . NT END=52269485;NT GT ./. 1 52269637 . C . . NT END=52271181;NT GT ./. 1 52271234 . C . . NT END=52272465;NT GT ./. 1 52272586 . C . . NT END=52274986;NT GT ./. 1 52272722 rs67317748 TTAG T 75 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=TTAG/0.2041,T/0.7959;DB;DBA=NA;PAF=TTAG/0.2041,T/0.7959;DB;DBA=NA;PAF=TTAG/0.2041,T/0.7959;NP=1496;Gene=NRDC/NM_001242361.1/0;CC=c.1799-140_1799-138delCTA;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.1991-140_1991-138delCTA;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.2195-140_2195-138delCTA;VC=Intron;DM=NRDC/Peptidase_M16_M;DM=NRDC/Peptidase_M16_M;DM=NRDC/Peptidase_M16_M;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:TTAG,T:27:6:0:23:5,22:149,700:0.00,74.88:0.00,7.71:0.00,67.17:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,4.7:0,0:0,0:143,101:4,49:3,29:-,NM_002525.2(NRD1) c.2195-140_2195-138delCTA:-,0.82:-,NOT_FOUND 1 52275074 . C . . NT END=52275952;NT GT ./. 1 52276077 . C . . NT END=52277665;NT GT ./. 1 52277771 . C . . NT END=52279706;NT GT ./. 1 52279650 rs2982846 T G 79 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.1655,G/0.8345;PC=0.002;Gene=NRDC/NM_001242361.1/0;CC=c.1482+57A>C;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.1674+57A>C;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.1878+57A>C;VC=Intron;DM=NRDC/Peptidase_M16_M;DM=NRDC/Peptidase_M16_M;DM=NRDC/Peptidase_M16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:19:0:0:22:682:78.68:59.70:18.98:1.00:1.00:1.00:60:33.6:0:0:48:102:31:NM_002525.2(NRD1) c.1878+57A>C,NM_002525.2(NRD1) c.1878+57A>C:0.83,0.83:0.721638,0.721638 1 52279762 . C . . NT END=52280222;NT GT ./. 1 52280282 . C . . NT END=52280364;NT GT ./. 1 52280486 . C . . NT END=52281983;NT GT ./. 1 52282062 . C . . NT END=52283737;NT GT ./. 1 52283808 . C . . NT END=52285471;NT GT ./. 1 52284018 rs2747525 A C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3752,C/0.6248;Gene=NRDC/NM_001242361.1/0;CC=c.1100-211T>G;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.1292-211T>G;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.1496-211T>G;VC=Intron;DM=NRDC/Peptidase_M16_C;DM=NRDC/Peptidase_M16_C;DM=NRDC/Peptidase_M16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:102:12.08:0.00:12.08:1.00:0.00:1.00:60:43.2:0:0:71:79:10:NM_002525.2(NRD1) c.1496-211T>G,NM_002525.2(NRD1) c.1496-211T>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 52285546 . C . . NT END=52287169;NT GT ./. 1 52287228 . C . . NT END=52289335;NT GT ./. 1 52289220 rs67976949 TGTATTAAGGTCAA T 28 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TGTATTAAGGTCAA/0.4377,T/0.5623;DB;DBA=NA;PAF=TGTATTAAGGTCAA/0.4377,T/0.5623;NP=2148;PC=0.008;Gene=NRDC/NM_001242361.1/0;CC=c.967+103_967+115delTTGACCTTAATAC;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.1159+103_1159+115delTTGACCTTAATAC;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.1363+103_1363+115delTTGACCTTAATAC;VC=Intron;DM=NRDC/Peptidase_M16_C;DM=NRDC/Peptidase_M16_C;DM=NRDC/Peptidase_M16;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:8:8:246:28.41:28.41:0.00:1.00:1.00:0.00:60:20.8:0:0:68:81:28:NM_002525.2(NRD1) c.1363+103_1363+115delTTGACCTTAATAC,NM_002525.2(NRD1) c.1363+103_1363+115delTTGACCTTAATAC:0.61,0.61:NOT_FOUND,NOT_FOUND 1 52289459 . C . . NT END=52290958;NT GT ./. 1 52290984 rs11205896 T G 186 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.5016,C/.,G/0.4984;PC=1.000;Gene=NRDC/NM_001242361.1/0;CC=c.819A>C;ProtCh=p.G273=;VC=Silent;Gene=NRDC/NM_001101662.1/0;CC=c.1011A>C;ProtCh=p.G337=;VC=Silent;Gene=NRDC/NM_002525.2/1;CC=c.1215A>C;ProtCh=p.G405=;VC=Silent;DM=NRDC/Peptidase_M16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:G:50:37:0:0:50:1618:185.55:107.70:77.84:1.00:1.00:1.00:60:40.2:0:0:51:92:25:NM_002525.2(NRD1) c.1215A>C (p.(=)),NM_002525.2(NRD1) c.1215A>C (p.(=)):0.54,0.54:0.43034,0.43034 1 52291055 . C . . NT END=52293467;NT GT ./. 1 52293542 . C . . NT END=52299688;NT GT ./. 1 52293570 rs2077725 G A 131 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.3754,A/0.6246;PC=0.002;Gene=NRDC/NM_001242361.1/0;CC=c.675-29C>T;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.867-29C>T;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.1071-29C>T;VC=Intron;DM=NRDC/Peptidase_M16;DM=NRDC/Peptidase_M16;DM=NRDC/Peptidase_M16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:19:0:0:36:1143:131.32:44.65:86.68:1.00:1.00:1.00:60:47.6:0:0:103:43:17:NM_002525.2(NRD1) c.1071-29C>T,NM_002525.2(NRD1) c.1071-29C>T:0.68,0.68:0.549592,0.549592 1 52293638 rs706495 G A 73 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2303;PC=0.530;Gene=NRDC/NM_001242361.1/0;CC=c.675-97C>T;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.867-97C>T;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.1071-97C>T;VC=Intron;DM=NRDC/Peptidase_M16;DM=NRDC/Peptidase_M16;DM=NRDC/Peptidase_M16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:1:0:0:20:636:73.13:1.94:71.19:1.00:1.00:1.00:60:68.7:0:0:95:54:19:NM_002525.2(NRD1) c.1071-97C>T,NM_002525.2(NRD1) c.1071-97C>T:1,1:NOT_FOUND,NOT_FOUND 1 52299843 . C . . NT END=52301802;NT GT ./. 1 52301885 . C . . NT END=52302040;NT GT ./. 1 52302111 . C . . NT END=52303158;NT GT ./. 1 52303293 . C . . NT END=52305897;NT GT ./. 1 52305664 rs7520502 G A 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4379,A/0.5621;PC=0.009;Gene=NRDC/NM_001242361.1/0;CC=c.234+234C>T;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.630+234C>T;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.630+234C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:380:43.72:43.72:0.00:1.00:1.00:0.00:60:35.2:0:0:38:112:23:NM_002525.2(NRD1) c.630+234C>T,NM_002525.2(NRD1) c.630+234C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 52306063 rs60220085 ATCT A 102 PASS VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=ATCT/0.4383,A/0.5617;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ATCT/0.4383,A/0.5617;NP=2540;PC=0.054;Gene=NRDC/NM_001242361.1/0;CC=c.66_68delAGA;ProtCh=p.E22del;VC=InFrameDel;Gene=NRDC/NM_001101662.1/0;CC=c.462_464delAGA;ProtCh=p.E154del;VC=InFrameDel;Gene=NRDC/NM_002525.2/1;CC=c.462_464delAGA;ProtCh=p.E154del;VC=InFrameDel;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:ATCT,A:39:22:0:30:9,30:227,971:0.00,102.31:0.00,52.57:0.00,49.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.0,13.3:0,0:0,0:134,50:16,98:11,24:-,NM_002525.2(NRD1) c.453AGA[3] (p.Glu150[4]):-,0.61:-,NOT_FOUND 1 52306066 rs72663147 T A 15 idl;end VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.054;Gene=NRDC/NM_001242361.1/0;CC=c.66A>T;ProtCh=p.E22D;VC=Missense;Gene=NRDC/NM_001101662.1/0;CC=c.462A>T;ProtCh=p.E154D;VC=Missense;Gene=NRDC/NM_002525.2/1;CC=c.462A>T;ProtCh=p.E154D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,T:11:5:0:30:5,6:156,165:14.70,0.00:11.56,0.00:3.15,0.00:0.93,0.00:0.95,0.00:0.98,0.00:60,60:33.2,23.7:0,0:0,0:4,141:146,8:2,5:NM_002525.2(NRD1) c.462A>T (p.Glu154Asp),-:NOT_FOUND,-:NOT_FOUND,- 1 52306187 . C . . NT END=52343654;NT GT ./. 1 52306196 rs548502501 G GA 6 rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.9371,GA/0.0629;DB;DBA=NA;PAF=G/0.9371,GA/0.0629;NP=55;Gene=NRDC/NM_001242361.1/0;CC=c.-55-11dupT;VC=Intron;Gene=NRDC/NM_001101662.1/0;CC=c.342-11dupT;VC=Intron;Gene=NRDC/NM_002525.2/1;CC=c.342-11dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:G,GA,D:39:21:3:1:35,3,1:1113,96,16:0.00,6.48,0.20:0.00,2.10,-0.15:0.00,4.38,0.36:0.00,0.38,0.00:0.00,0.69,0.00:0.00,0.81,0.00:60,60,60:15.3,11.3,165.0:0,0,0:0,0,0:100,116,115:46,35,36:25,19,0:-,NM_002525.2(NRD1) c.342-11_342-10insT:-,NOT_FOUND:-,NOT_FOUND 1 52343713 . T . . NT END=52343946;NT GT ./. 1 52344288 . T . . NT END=52385598;NT GT ./. 1 52344414 rs736756 A C 100 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.5002,C/0.4998;PC=0.996;Gene=NRDC/NM_001101662.1/0;CC=c.-127T>G;VC=5UTR;Gene=NRDC/NM_002525.2/1;CC=c.-127T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:0:0:0:29:867:100.42:0.00:100.42:1.00:0.00:1.00:60:41.8:0:0:105:46:32:NM_002525.2(NRD1) c.-127T>G,NM_002525.2(NRD1) c.-127T>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 52385787 . C . . NT END=52398989;NT GT ./. 1 52399115 . C . . NT END=52402965;NT GT ./. 1 52402856 rs10888741 T G 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.1182,G/0.8818;PC=0.012;Gene=RAB3B/NM_002867.3/1;CC=c.347+110A>C;VC=Intron;DM=RAB3B/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:18:0:0:19:573:66.34:62.37:3.98:1.00:1.00:1.00:60:43.5:0:0:67:83:33:NM_002867.3(RAB3B) c.347+110A>C,NM_002867.3(RAB3B) c.347+110A>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 52402956 rs10888742 G A 138 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.1184,A/0.8816;Gene=RAB3B/NM_002867.3/1;CC=c.347+10C>T;VC=Intron;DM=RAB3B/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:32:0:0:37:1203:137.94:103.45:34.49:1.00:1.00:1.00:60:41.4:0:0:33:118:22:NM_002867.3(RAB3B) c.347+10C>T,NM_002867.3(RAB3B) c.347+10C>T:0.91,0.91:0.881901,0.881901 1 52403085 . C . . NT END=52442561;NT GT ./. 1 52403174 . AT A 7 rn VT=DEL;SST=Single;DP=13;NP=7;PC=0.997;Gene=RAB3B/NM_002867.3/1;CC=c.229-91delA;VC=Intron;DM=RAB3B/Ras;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:AT,A:12:0:0:4:9,3:299,120:0.00,7.40:0.00,0.00:0.00,7.40:0.00,0.58:0.00,0.00:0.00,0.58:60,60:6.0,14.7:0,1:0,0:102,96:49,54:31,29:-,NM_002867.3(RAB3B) c.229-91delA:-,NOT_FOUND:-,NOT_FOUND 1 52403276 rs6697270 T A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4219,A/0.5781;PC=0.001;Gene=RAB3B/NM_002867.3/1;CC=c.229-192A>T;VC=Intron;DM=RAB3B/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:168:19.60:0.00:19.60:1.00:0.00:1.00:60:33.7:0:0:99:51:13:NM_002867.3(RAB3B) c.229-192A>T,NM_002867.3(RAB3B) c.229-192A>T:0.62,0.62:NOT_FOUND,NOT_FOUND 1 52442790 . C . . NT END=52486604;NT GT ./. 1 52486685 . C . . NT END=52489162;NT GT ./. 1 52489247 . C . . NT END=52490181;NT GT ./. 1 52489322 rs2783178 G A 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.07628,A/0.9237;PC=0.007;Gene=TXNDC12/NM_015913.3/1;CC=c.356-76C>T;VC=Intron;DM=TXNDC12/Thioredoxin_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:3:0:0:20:668:76.33:9.74:66.59:1.00:1.00:1.00:60:39.2:0:0:105:43:16:NM_015913.3(TXNDC12) c.356-76C>T,NM_015913.3(TXNDC12) c.356-76C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 1 52490252 . C . . NT END=52492946;NT GT ./. 1 52490418 rs4926906 C T 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2963,T/0.7037;Gene=TXNDC12/NM_015913.3/1;CC=c.286-167G>A;VC=Intron;DM=TXNDC12/Thioredoxin_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:275:31.75:0.00:31.75:1.00:0.00:1.00:60:42.9:0:0:98:52:44:NM_015913.3(TXNDC12) c.286-167G>A,NM_015913.3(TXNDC12) c.286-167G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 1 52493021 . C . . NT END=52494249;NT GT ./. 1 52494303 . C . . NT END=52497768;NT GT ./. 1 52499434 . C . . NT END=52507208;NT GT ./. 1 52507270 . C . . NT END=52520671;NT GT ./. 1 52520769 . G . . NT END=52525519;NT GT ./. 1 52525574 . G . . NT END=52526099;NT GT ./. 1 52526332 . G . . NT END=52530496;NT GT ./. 1 52530323 rs2809951 G A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1148,A/0.8852;PC=0.001;Gene=BTF3L4/NM_001136497.2/0;CC=c.-120-174G>A;VC=Intron;Gene=BTF3L4/NM_001243767.1/0;CC=c.55-174G>A;VC=Intron;Gene=BTF3L4/NM_152265.4/1;CC=c.55-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:260:29.81:29.81:0.00:1.00:1.00:0.00:60:49.0:0:0:38:113:15:NM_152265.4(BTF3L4) c.55-174G>A,NM_152265.4(BTF3L4) c.55-174G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 52530611 . G . . NT END=52549011;NT GT ./. 1 52537555 rs6661480 T C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3099,C/0.6901;PC=0.120;Gene=BTF3L4/NM_001136497.2/0;CC=c.-7+6945T>C;VC=Intron;Gene=BTF3L4/NM_001243767.1/0;CC=c.168+6945T>C;VC=Intron;Gene=BTF3L4/NM_152265.4/1;CC=c.168+6945T>C;VC=Intron;DM=BTF3L4/NAC;DM=BTF3L4/NAC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:149:17.26:15.22:2.04:1.00:1.00:1.00:60:62.0:0:0:30:120:12:NM_152265.4(BTF3L4) c.168+6945T>C,NM_152265.4(BTF3L4) c.168+6945T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 52537603 . CTGTGTG C 7 rn VT=DEL;SST=Single;DP=5;NP=3;PC=0.001;Gene=BTF3L4/NM_001136497.2/0;CC=c.-7+7031_-7+7036delGTGTGT;VC=Intron;Gene=BTF3L4/NM_001243767.1/0;CC=c.168+7031_168+7036delGTGTGT;VC=Intron;Gene=BTF3L4/NM_152265.4/1;CC=c.168+7031_168+7036delGTGTGT;VC=Intron;DM=BTF3L4/NAC;DM=BTF3L4/NAC;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,CTGTGTG,C:4:3:0:3:1,1,2:7,19,94:0.41,0.00,6.64:0.51,0.00,5.12:-0.10,0.00,1.52:0.00,0.00,0.46:0.00,0.00,0.80:0.00,0.00,0.80:60,60,60:74.0,124.0,48.0:0,1,1:0,0,0:86,76,48:34,74,85:0,0,0:-,NM_152265.4(BTF3L4) c.168+6994_168+6999delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 52537692 rs139770010 G GT 23 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.255,GT/0.745;NP=518;Gene=BTF3L4/NM_001136497.2/0;CC=c.-7+7091_-7+7092insT;VC=Intron;Gene=BTF3L4/NM_001243767.1/0;CC=c.168+7091_168+7092insT;VC=Intron;Gene=BTF3L4/NM_152265.4/1;CC=c.168+7091_168+7092insT;VC=Intron;DM=BTF3L4/NAC;DM=BTF3L4/NAC;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:GT:7:4:7:0:7:196:22.93:9.37:13.56:1.00:1.00:1.00:60:22.1:0:0:110:20:21:NM_152265.4(BTF3L4) c.168+7082_168+7083insT,NM_152265.4(BTF3L4) c.168+7082_168+7083insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 52549214 . G . . NT END=52551783;NT GT ./. 1 52551844 . G . . NT END=52552383;NT GT ./. 1 52552431 . A . . NT END=52698878;NT GT ./. 1 52598998 rs61782483 G GGTGT 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=194;NP=2;PC=0.805;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,GGTGT:5:3:4:0:1,4:33,117:0.00,12.52:0.00,5.12:0.00,7.40:0.00,0.96:0.00,0.99:0.00,1.00:60,60:60.0,23.0:0,0:0,0:43,80:108,71:0,8:-,chr1 g.52598998_52598999insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 52625895 rs597405 G A 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.02236,A/0.9776;PC=0.563;Gene=ZFYVE9/NM_004799.3/1;CC=c.-143+17820G>A;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.-143+17820G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:395:45.22:39.71:5.52:1.00:1.00:1.00:60:48.1:0:0:30:119:22:NM_007323.1(ZFYVE9) c.-143+17820G>A,NM_007323.1(ZFYVE9) c.-143+17820G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 52626181 rs573219 T C 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.01677,C/0.9832;PC=1.000;Gene=ZFYVE9/NM_004799.3/1;CC=c.-143+18106T>C;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.-143+18106T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:1:0:0:14:470:53.68:2.88:50.80:1.00:1.00:1.00:60:73.5:0:0:93:57:18:NM_007323.1(ZFYVE9) c.-143+18106T>C,NM_007323.1(ZFYVE9) c.-143+18106T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 52626183 rs573221 G A 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.02476,A/0.9752;PC=1.000;Gene=ZFYVE9/NM_004799.3/1;CC=c.-143+18108G>A;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.-143+18108G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:1:0:0:14:432:49.87:3.38:46.49:1.00:1.00:1.00:60:73.5:0:0:95:55:18:NM_007323.1(ZFYVE9) c.-143+18108G>A,NM_007323.1(ZFYVE9) c.-143+18108G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 52698949 . G . . NT END=52703159;NT GT ./. 1 52705268 . G . . NT END=52729444;NT GT ./. 1 52729343 rs189619259 A T 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.9986,T/0.001398;NP=2;PC=0.026;Gene=ZFYVE9/NM_004799.3/1;CC=c.2179-102A>T;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.2179-102A>T;VC=Intron;DM=ZFYVE9/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:28:0:0:13,16:396,497:0.00,48.64:0.00,45.49:0.00,3.14:0.00,1.00:0.00,1.00:0.00,0.83:60,60:19.2,45.3:0,0:0,0:103,69:48,81:46,44:-,NM_004799.2(ZFYVE9) c.2179-102A>T:-,0.0023:-,NOT_FOUND 1 52729432 rs3833531 C G 117 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.7099,A/.,G/0.2901,T/.;PC=0.068;Gene=ZFYVE9/NM_004799.3/1;CC=c.2179-13C>G;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.2179-13C>G;VC=Intron;DM=ZFYVE9/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:A,C,G,T:45:25:0:0:1,4,38,2:12,83,1054,26:0.25,0.00,117.15,1.00:0.27,0.00,41.22,0.49:-0.01,0.00,75.93,0.51:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:88.0,21.5,43.8,71.0:0,2,1,0:0,0,0,0:116,97,29,106:11,39,109,34:0,23,23,16:NM_004799.2(ZFYVE9) c.2179-13C>G,NM_004799.2(ZFYVE9) c.2179-13C>G:0.38,0.38:0.337069,0.337069 1 52729545 . G . . NT END=52732326;NT GT ./. 1 52729808 rs12142485 G A 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9712,A/0.02875;Gene=ZFYVE9/NM_004799.3/1;CC=c.2278+264G>A;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.2278+264G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:0:0:0:3,1:80,34:8.44,0.00:0.00,0.00:8.44,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:26.7,0.0:0,0:0,0:133,55:18,95:14,0:NM_004799.2(ZFYVE9) c.2278+264G>A,-:0.04,-:NOT_FOUND,- 1 52732504 . G . . NT END=52734134;NT GT ./. 1 52734305 . G . . NT END=52740135;NT GT ./. 1 52740257 . G . . NT END=52744163;NT GT ./. 1 52744287 . G . . NT END=52747332;NT GT ./. 1 52747489 . G . . NT END=52759124;NT GT ./. 1 52759048 rs376379860 C CA 8 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.045;Gene=ZFYVE9/NM_004799.3/1;CC=c.3026-55_3026-54insA;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.2849-55_2849-54insA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,C,CA,D:21:22:4:5:1,14,3,3:29,404,133,155:1.74,0.00,7.91,6.72:1.78,0.00,8.03,5.34:-0.04,0.00,-0.11,1.37:0.00,0.00,0.47,0.00:0.00,0.00,0.88,0.00:0.00,0.00,0.38,0.00:60,60,60,60:40.0,23.4,15.3,33.0:0,0,1,2:0,0,0,0:0,50,53,37:151,91,98,89:0,35,2,32:-,NM_004799.2(ZFYVE9) c.3026-77_3026-76insA:-,NOT_FOUND:-,NOT_FOUND 1 52759350 . G . . NT END=52761566;NT GT ./. 1 52761650 . G . . NT END=52769492;NT GT ./. 1 52769598 . G . . NT END=52798439;NT GT ./. 1 52784042 rs59683935 ATGTGTGTGTG A 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=151;PC=0.436;Gene=ZFYVE9/NM_004799.3/1;CC=c.3439-14362_3439-14353delGTGTGTGTGT;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.3262-14362_3262-14353delGTGTGTGTGT;VC=Intron;DM=ZFYVE9/DUF3480;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A:2:3:0:4:2:127:7.05:3.53:3.53:0.51:0.89:0.89:60:17.0:2:0:67:77:8:NM_004799.2(ZFYVE9) c.3439-14397_3439-14388delTGTGTGTGTG,NM_004799.2(ZFYVE9) c.3439-14397_3439-14388delTGTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 52798169 rs571630626 C T 11 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9988,T/0.001198;Gene=ZFYVE9/NM_004799.3/1;CC=c.3439-271C>T;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.3262-271C>T;VC=Intron;DM=ZFYVE9/DUF3480 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:7:7:0:0:3,4:81,114:0.00,11.24:0.00,11.24:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:7.3,33.8:3,4:0,0:27,86:124,65:8,41:-,NM_004799.2(ZFYVE9) c.3439-271C>T:-,NOT_FOUND:-,NOT_FOUND 1 52798171 rs59183887 A AT 28 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.01158,AT/0.9884;DB;DBA=NA;PAF=A/0.01158,AT/0.9884;NP=156;Gene=ZFYVE9/NM_004799.3/1;CC=c.3439-268dupT;VC=Intron;Gene=ZFYVE9/NM_007324.3/0;CC=c.3262-268dupT;VC=Intron;DM=ZFYVE9/DUF3480;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:AT:8:8:8:0:8:237:27.51:27.51:0.00:1.00:1.00:0.00:70:19.6:0:0:33:118:18:NM_004799.2(ZFYVE9) c.3439-269_3439-268insT,NM_004799.2(ZFYVE9) c.3439-269_3439-268insT:0.99,0.99:NOT_FOUND,NOT_FOUND 1 52798591 . G . . NT END=52800359;NT GT ./. 1 52800441 . G . . NT END=52803443;NT GT ./. 1 52803607 . G . . NT END=52805797;NT GT ./. 1 52805904 . G . . NT END=52810439;NT GT ./. 1 52810617 . G . . NT END=52811731;NT GT ./. 1 52811894 . A . . NT END=52818844;NT GT ./. 1 52819320 . C . . NT END=52820279;NT GT ./. 1 52820226 rs2820334 G A 136 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.005192,A/0.9948;NP=3465;Gene=CC2D1B/NM_032449.2/1;CC=c.2448+54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:35:0:0:36:1184:135.53:124.30:11.23:1.00:1.00:1.00:60:43.8:0:0:34:108:25:NM_032449.2(CC2D1B) c.2448+54C>T,NM_032449.2(CC2D1B) c.2448+54C>T:1,1:0.994306,0.994306 1 52820371 . C . . NT END=52820511;NT GT ./. 1 52820612 . C . . NT END=52821069;NT GT ./. 1 52821122 . C . . NT END=52821279;NT GT ./. 1 52821339 . C . . NT END=52821442;NT GT ./. 1 52821517 . C . . NT END=52821857;NT GT ./. 1 52821975 . C . . NT END=52822055;NT GT ./. 1 52822115 . C . . NT END=52822672;NT GT ./. 1 52822799 . C . . NT END=52823197;NT GT ./. 1 52823371 . C . . NT END=52823452;NT GT ./. 1 52823589 . C . . NT END=52824002;NT GT ./. 1 52824134 . C . . NT END=52824357;NT GT ./. 1 52824431 . C . . NT END=52824698;NT GT ./. 1 52824830 . C . . NT END=52824921;NT GT ./. 1 52825030 . C . . NT END=52825130;NT GT ./. 1 52825207 . C . . NT END=52825376;NT GT ./. 1 52825556 . C . . NT END=52825745;NT GT ./. 1 52825906 . C . . NT END=52826095;NT GT ./. 1 52826222 . C . . NT END=52826645;NT GT ./. 1 52826805 . C . . NT END=52827184;NT GT ./. 1 52827289 . C . . NT END=52828273;NT GT ./. 1 52828419 . C . . NT END=52830223;NT GT ./. 1 52830293 . G . . NT END=52838852;NT GT ./. 1 52839048 . C . . NT END=52840481;NT GT ./. 1 52840570 . C . . NT END=52841101;NT GT ./. 1 52841272 . C . . NT END=52847313;NT GT ./. 1 52847434 . C . . NT END=52849091;NT GT ./. 1 52849242 . C . . NT END=52849501;NT GT ./. 1 52849610 . C . . NT END=52850221;NT GT ./. 1 52850394 . C . . NT END=52850832;NT GT ./. 1 52850935 . C . . NT END=52851523;NT GT ./. 1 52851622 . C . . NT END=52854113;NT GT ./. 1 52854310 . C . . NT END=52854888;NT GT ./. 1 52854994 . C . . NT END=52859114;NT GT ./. 1 52859476 . C . . NT END=52861717;NT GT ./. 1 52862037 . C . . NT END=52863356;NT GT ./. 1 52863536 . C . . NT END=52867033;NT GT ./. 1 52867162 . C . . NT END=52867800;NT GT ./. 1 52867896 . G . . NT END=52870421;NT GT ./. 1 52870552 . G . . NT END=52871351;NT GT ./. 1 52871512 . G . . NT END=52874240;NT GT ./. 1 52874363 . G . . NT END=52876786;NT GT ./. 1 52876562 rs11205954 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.003594,G/0.9964;NP=1040;Gene=PRPF38A/NM_032864.3/1;CC=c.413-225A>G;VC=Intron;DM=PRPF38A/PRP38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:37.8:0:0:59:92:31:NM_032864.3(PRPF38A) c.413-225A>G,NM_032864.3(PRPF38A) c.413-225A>G:1,1:NOT_FOUND,NOT_FOUND 1 52876873 . G . . NT END=52878185;NT GT ./. 1 52878297 . G . . NT END=52879550;NT GT ./. 1 52879664 . G . . NT END=52880292;NT GT ./. 1 52880320 . G . . NT END=52880433;NT GT ./. 1 52880532 . G . . NT END=52881009;NT GT ./. 1 52881059 . G . . NT END=52882319;NT GT ./. 1 52882363 . T . . NT END=52889496;NT GT ./. 1 52889675 . C . . NT END=52891020;NT GT ./. 1 52891180 . C . . NT END=52896684;NT GT ./. 1 52897133 . C . . NT END=52901036;NT GT ./. 1 52901138 . C . . NT END=52902426;NT GT ./. 1 52902651 . C . . NT END=52903891;NT GT ./. 1 52904008 . C . . NT END=52911458;NT GT ./. 1 52911542 . C . . NT END=52911628;NT GT ./. 1 52911677 . C . . NT END=52911936;NT GT ./. 1 52912115 . C . . NT END=52912261;NT GT ./. 1 52912122 rs55749039 T TA 132 idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.7326,TA/0.2674;DB;DBA=NA;PAF=T/0.7326,TA/0.2674,TAA/.;NP=52;NP=816;Gene=ZCCHC11/NM_001009881.2/0;CC=c.3514-9dupT;VC=Intron;Gene=ZCCHC11/NM_015269.2/1;CC=c.3514-9dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA,D:68:44:45:1:1,24,42,1:32,675,1394,29:1.68,0.00,131.69,1.39:-0.06,0.00,70.89,0.70:1.75,0.00,60.80,0.69:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:102.0,23.5,9.9,0.0:1,1,3,0:0,0,0,0:43,118,87,10:107,32,61,140:0,26,20,0:-,NM_001009881.2(ZCCHC11) c.3514-9_3514-8insT:-,NOT_FOUND:-,NOT_FOUND 1 52912340 . C . . NT END=52924007;NT GT ./. 1 52924122 . C . . NT END=52926805;NT GT ./. 1 52926896 . C . . NT END=52927184;NT GT ./. 1 52927289 . C . . NT END=52927383;NT GT ./. 1 52927295 . TA T 11 rn VT=DEL;SST=Single;DP=57;NP=23;PC=0.946;Gene=ZCCHC11/NM_001009881.2/0;CC=c.3128-8delT;VC=Intron;Gene=ZCCHC11/NM_015269.2/1;CC=c.3128-8delT;VC=Intron;DM=ZCCHC11/NTP_transf_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,TA,I,T:57:37:1:5:1,50,1,5:32,1575,22,160:1.54,0.00,0.58,11.12:1.76,0.00,0.31,7.05:-0.21,0.00,0.28,4.07:0.00,0.00,0.00,0.71:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.91:60,60,60,60:32.0,7.1,0.0,0.0:0,0,0,0:0,0,0,0:8,82,106,92:142,67,44,59:0,30,0,33:-,NM_001009881.2(ZCCHC11) c.3128-8delT:-,NOT_FOUND:-,0.032947 1 52927442 . C . . NT END=52928340;NT GT ./. 1 52929450 . C . . NT END=52930741;NT GT ./. 1 52930846 . C . . NT END=52933852;NT GT ./. 1 52933940 . C . . NT END=52937623;NT GT ./. 1 52937775 . C . . NT END=52940503;NT GT ./. 1 52941208 . C . . NT END=52943379;NT GT ./. 1 52943225 rs835033 C A 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6194,A/0.3806;PC=0.013;Gene=ZCCHC11/NM_001009881.2/0;CC=c.2023+155G>T;VC=Intron;Gene=ZCCHC11/NM_015269.2/1;CC=c.2023+155G>T;VC=Intron;DM=ZCCHC11/PAP_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:A,C:12:12:0:0:11,1:336,35:37.34,0.00:37.34,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:32.3,103.0:0,0:0,0:19,33:131,111:19,0:NM_001009881.2(ZCCHC11) c.2023+155G>T,-:0.41,-:NOT_FOUND,- 1 52943555 . C . . NT END=52947094;NT GT ./. 1 52947308 . C . . NT END=52947475;NT GT ./. 1 52947350 rs369545413 TA T 26 idl,rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=132;PC=0.018;Gene=ZCCHC11/NM_001009881.2/0;CC=c.1636-44delT;VC=Intron;Gene=ZCCHC11/NM_015269.2/1;CC=c.1636-44delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:37:20:4:10:24,3,10:729,110,298:0.00,5.48,25.60:0.00,2.30,10.40:0.00,3.18,15.21:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:25.2,18.7,35.6:0,1,0:0,0,0:101,67,65:47,81,84:25,11,39:-,NM_001009881.2(ZCCHC11) c.1636-44delT:-,NOT_FOUND:-,0.273137 1 52947596 . C . . NT END=52954580;NT GT ./. 1 52954708 . C . . NT END=52956403;NT GT ./. 1 52956474 . C . . NT END=52959282;NT GT ./. 1 52959245 . T GA 7 rn VT=INS;SST=Single;DP=30;NP=6;PC=0.001;Gene=ZCCHC11/NM_001009881.2/0;CC=c.1318+37_1318+38insT;VC=Intron;Gene=ZCCHC11/NM_015269.2/1;CC=c.1318+37_1318+38insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:T,GA,D:30:27:3:1:26,3,1:811,95,33:0.00,6.75,1.92:0.00,7.11,2.04:0.00,-0.36,-0.12:0.00,0.43,0.00:0.00,0.86,0.00:0.00,0.66,0.00:60,60,60:11.4,0.0,0.0:0,0,0:0,0,0:37,23,56:110,128,94:30,19,0:-,NM_001009881.2(ZCCHC11) c.1318+38delAinsTC:-,NOT_FOUND:-,NOT_FOUND 1 52959335 . C . . NT END=52961098;NT GT ./. 1 52961188 . C . . NT END=52962677;NT GT ./. 1 52962856 . C . . NT END=52975267;NT GT ./. 1 52975385 . C . . NT END=52981562;NT GT ./. 1 52981727 . C . . NT END=52991234;NT GT ./. 1 52991037 . C CT 18 rn VT=INS;SST=Single;DP=16;NP=2;Gene=ZCCHC11/NM_001009881.2/0;CC=c.718+197dupA;VC=Intron;Gene=ZCCHC11/NM_015269.2/1;CC=c.718+197dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,CT,D:16:16:6:2:8,6,2:263,193,66:0.00,17.97,5.29:0.00,17.97,5.29:0.00,0.00,0.00:0.00,0.95,0.00:0.00,0.95,0.00:0.00,0.00,0.00:60,60,60:27.2,13.2,0.0:0,0,0:0,0,0:75,68,49:76,82,101:40,28,17:-,NM_001009881.2(ZCCHC11) c.718+197_718+198insA:-,NOT_FOUND:-,NOT_FOUND 1 52991638 rs12123698 C T 590 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=C/0.7141,T/0.2859;Gene=ZCCHC11/NM_001009881.2/0;CC=c.315G>A;ProtCh=p.P105=;VC=Silent;Gene=ZCCHC11/NM_015269.2/1;CC=c.315G>A;ProtCh=p.P105=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:157:83:0:0:1,1,155:31,5,5186:0.00,0.01,589.67:0.00,0.01,233.63:0.00,-0.00,356.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:41.0,99.0,38.9:0,0,0:0,0,0:150,83,82:1,68,66:0,0,39:NM_001009881.2(ZCCHC11) c.315G>A (p.(=)),NM_001009881.2(ZCCHC11) c.315G>A (p.(=)):0.33,0.33:0.246963,0.246963 1 52991955 . T . . NT END=53068081;NT GT ./. 1 53067914 rs11810754 T G 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3273,G/0.6727;PC=0.927 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:29:0:0:15,16:464,464:44.22,0.00:37.23,0.00:6.99,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:49.3,10.5:0,0:0,0:64,24:86,118:18,19:NM_015696.4(GPX7) c.-39-u129T>G,-:0.66,-:NOT_FOUND,- 1 53068220 . G . . NT END=53072355;NT GT ./. 1 53072059 rs34766522 T G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.9683,G/0.03175;Gene=GPX7/NM_015696.4/1;CC=c.139-297T>G;VC=Intron;DM=GPX7/GSHPx GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:G,T:14:14:0:0:3,11:104,309:8.68,0.00:8.68,0.00:0.00,0.00:0.56,0.00:0.56,0.00:0.00,0.00:60,60:38.0,31.5:0,0:0,0:13,23:138,128:9,16:NM_015696.4(GPX7) c.139-297T>G,-:0.03,-:NOT_FOUND,- 1 53072410 . C T 282 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=181;PC=1.000;Gene=GPX7/NM_015696.4/1;CC=c.193C>T;ProtCh=p.R65*;VC=Nonsense;DM=GPX7/GSHPx GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:181:140:0:0:93,88:2890,2943:0.00,281.85:0.00,170.66:0.00,111.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.2,65.4:0,0:0,0:59,72:80,75:31,34:-,NM_015696.4(GPX7) c.193C>T (p.Arg65*):-,NOT_FOUND:-,NOT_FOUND 1 53072454 rs1970951 T C 760 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=200;DB;DBA=NA;PAF=T/0.122,C/0.878,G/.;PC=1.000;Gene=GPX7/NM_015696.4/1;CC=c.237T>C;ProtCh=p.F79=;VC=Silent;DM=GPX7/GSHPx GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:200:139:0:0:200:6653:760.38:418.83:341.55:1.00:1.00:1.00:60:49.9:0:0:70:75:30:NM_015696.4(GPX7) c.237T>C (p.(=)),NM_015696.4(GPX7) c.237T>C (p.(=)):0.85,0.85:0.875903,0.875903 1 53072618 . G . . NT END=53073933;NT GT ./. 1 53072741 rs1970950 A G 186 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.1805,G/0.8195;PC=0.001;Gene=GPX7/NM_015696.4/1;CC=c.400+124A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:C,G:53:3:0:0:1,52:7,1616:0.08,185.92:0.00,7.21:0.08,178.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:219.0,59.5:0,0:0,0:56,100:95,48:0,32:NM_015696.4(GPX7) c.400+124A>G,NM_015696.4(GPX7) c.400+124A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 53072796 rs1970949 G C 121 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.1873,C/0.8127;Gene=GPX7/NM_015696.4/1;CC=c.400+179G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:0:0:0:33:1049:120.56:0.00:120.56:1.00:0.00:1.00:60:70.2:0:0:111:40:23:NM_015696.4(GPX7) c.400+179G>C,NM_015696.4(GPX7) c.400+179G>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 53074098 . C . . NT END=53099165;NT GT ./. 1 53099085 rs142476797 C T 125 nt VT=SNV;PN=T;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.977,T/0.02296;Gene=FAM159A/NM_001042693.1/1;CC=c.-81C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:74:0:0:43,41:1371,1303:0.00,124.63:0.00,85.14:0.00,39.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,45.5:0,0:0,0:48,33:103,108:24,18:-,NM_001042693.1(FAM159A) c.-81C>T:-,0.02:-,NOT_FOUND 1 53099348 . G . . NT END=53108534;NT GT ./. 1 53108675 . G . . NT END=53122461;NT GT ./. 1 53122738 . T . . NT END=53133070;NT GT ./. 1 53133082 . C . . NT END=53153391;NT GT ./. 1 53153841 . C . . NT END=53158398;NT GT ./. 1 53153916 . ATT A 17 idl,rn VT=DEL;SST=Single;DP=44;PC=0.018;Gene=COA7/NM_023077.2/1;CC=c.248-78_248-77delAA;VC=Intron;DM=COA7/Sel1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:ATT,T,I,A:41:5:5:9:29,1,4,7:902,12,155,274:0.00,0.01,8.75,17.38:0.00,-0.03,-0.12,2.75:0.00,0.04,8.87,14.62:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.57:0.00,0.00,0.00,1.00:60,60,60,60:6.6,23.0,32.5,10.7:0,0,1,2:0,0,0,0:125,17,95,118:19,133,55,33:22,0,12,9:-,NM_023077.2(SELRC1) c.248-78_248-77delAA:-,NOT_FOUND:-,NOT_FOUND 1 53158540 . C . . NT END=53163892;NT GT ./. 1 53163999 . G . . NT END=53192325;NT GT ./. 1 53192082 rs76280926 T G 30 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6639,G/0.3361;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:257:29.51:27.53:1.99:1.00:1.00:1.00:60:79.4:0:0:51:81:29:NM_024646.2(ZYG11B) c.-195-u49T>G,NM_024646.2(ZYG11B) c.-195-u49T>G:0.36,0.36:NOT_FOUND,NOT_FOUND 1 53192112 rs113441120 T C 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6759,C/0.3241;PC=0.946 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:314:36.53:36.53:0.00:1.00:1.00:0.00:60:79.1:0:0:49:102:44:NM_024646.2(ZYG11B) c.-195-u19T>C,NM_024646.2(ZYG11B) c.-195-u19T>C:0.35,0.35:NOT_FOUND,NOT_FOUND 1 53192187 rs269298 C T 96 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.1472,T/0.8528;Gene=ZYG11B/NM_024646.2/1;CC=c.-139C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G,T:28:28:0:0:1,27:11,835:0.35,95.89:0.35,92.02:0.00,3.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:168.0,46.9:0,0:0,0:124,41:27,110:0,30:NM_024646.2(ZYG11B) c.-139C>T,NM_024646.2(ZYG11B) c.-139C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 53192356 . G . . NT END=53222129;NT GT ./. 1 53222296 . G . . NT END=53236691;NT GT ./. 1 53237447 . G . . NT END=53245524;NT GT ./. 1 53237526 rs1571979 G A 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.2851,A/0.7149;PC=0.002;Gene=ZYG11B/NM_024646.2/1;CC=c.951+80G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:6:0:0:29:923:106.09:13.32:92.77:1.00:1.00:1.00:60:40.1:0:0:103:42:29:NM_024646.2(ZYG11B) c.951+80G>A,NM_024646.2(ZYG11B) c.951+80G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 53237721 rs1412706 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2849,A/0.7151;Gene=ZYG11B/NM_024646.2/1;CC=c.951+275G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:2:0:0:6:188:21.65:7.85:13.80:1.00:1.00:1.00:60:59.7:0:0:67:83:45:NM_024646.2(ZYG11B) c.951+275G>A,NM_024646.2(ZYG11B) c.951+275G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 53237763 rs960570 A G 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7109,G/0.2891;PC=0.001;Gene=ZYG11B/NM_024646.2/1;CC=c.951+317A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:210:23.86:13.92:9.94:1.00:1.00:1.00:60:52.2:0:0:47:103:24:NM_024646.2(ZYG11B) c.951+317A>G,NM_024646.2(ZYG11B) c.951+317A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 1 53238324 rs12563825 G T 68 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6949,T/0.3051;PC=1.000;Gene=ZYG11B/NM_024646.2/1;CC=c.951+878G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:1:0:0:18:595:68.08:3.48:64.61:1.00:1.00:1.00:60:40.7:0:0:94:56:26:NM_024646.2(ZYG11B) c.951+878G>T,NM_024646.2(ZYG11B) c.951+878G>T:0.32,0.32:NOT_FOUND,NOT_FOUND 1 53245472 rs9661082 A T 254 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.2851,T/0.7149;Gene=ZYG11B/NM_024646.2/1;CC=c.952-53A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:62:0:0:70:2204:253.62:175.66:77.96:1.00:1.00:1.00:60:39.8:0:0:50:94:34:NM_024646.2(ZYG11B) c.952-53A>T,NM_024646.2(ZYG11B) c.952-53A>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 53245666 . G . . NT END=53250548;NT GT ./. 1 53245849 rs7526275 C T 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2851,T/0.7149;PC=0.954;Gene=ZYG11B/NM_024646.2/1;CC=c.1092+184C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:337:38.93:0.00:38.93:1.00:0.00:1.00:60:54.4:0:0:120:31:22:NM_024646.2(ZYG11B) c.1092+184C>T,NM_024646.2(ZYG11B) c.1092+184C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 53250650 rs6588443 G A 337 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.2851,A/0.7149;PC=0.321;Gene=ZYG11B/NM_024646.2/1;CC=c.1194G>A;ProtCh=p.G398=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:95:59:0:0:93,2:2933,18:336.52,0.31:146.39,0.19:190.13,0.12:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,145.0:0,0:0,0:75,73:71,60:36,44:NM_024646.2(ZYG11B) c.1194G>A (p.(=)),NM_024646.2(ZYG11B) c.1194G>A (p.(=)):0.71,0.71:0.573658,0.573658 1 53250726 . G . . NT END=53255674;NT GT ./. 1 53250915 rs7523761 T C 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4702,C/0.5298;Gene=ZYG11B/NM_024646.2/1;CC=c.1269+190T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:309:35.19:0.00:35.19:1.00:0.00:1.00:60:34.3:0:0:115:36:16:NM_024646.2(ZYG11B) c.1269+190T>C,NM_024646.2(ZYG11B) c.1269+190T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 53255740 . G . . NT END=53261963;NT GT ./. 1 53262064 . G . . NT END=53262405;NT GT ./. 1 53262457 . G . . NT END=53267490;NT GT ./. 1 53267474 rs201902482 G GT 12 rn VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=1;NP=8;Gene=ZYG11B/NM_024646.2/1;CC=c.1486-4dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,T,GT,D:45:39:6:1:38,1,5,1:1285,11,195,29:0.00,-0.13,11.87,1.36:0.00,-0.03,4.30,1.45:0.00,-0.09,7.57,-0.09:0.00,0.00,0.74,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.81,0.00:60,60,60,60:10.8,11.0,14.0,20.0:0,0,1,0:0,0,0,0:83,150,59,65:67,1,89,85:39,0,23,0:-,NM_024646.2(ZYG11B) c.1486-17_1486-16insT:-,NOT_FOUND:-,NOT_FOUND 1 53267653 . G . . NT END=53267763;NT GT ./. 1 53267812 . G . . NT END=53279207;NT GT ./. 1 53279193 . C CT 12 rn VT=INS;SST=Single;DP=69;NP=1;PC=0.001;Gene=ZYG11B/NM_024646.2/1;CC=c.1696-5_1696-4insT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,CT,D:69:54:6:1:62,6,1:1995,178,34:0.00,11.87,1.65:0.00,11.40,0.77:0.00,0.47,0.88:0.00,0.80,0.00:0.00,0.96,0.00:0.00,0.86,0.00:60,70,60:16.1,12.2,0.0:0,0,0:0,0,0:52,44,69:93,105,79:33,33,0:-,NM_024646.2(ZYG11B) c.1696-15_1696-14insT:-,NOT_FOUND:-,NOT_FOUND 1 53279406 . G . . NT END=53279531;NT GT ./. 1 53279585 . G . . NT END=53282203;NT GT ./. 1 53282302 . G . . NT END=53287110;NT GT ./. 1 53282452 . CTTT C 8 idl,rn VT=DEL;SST=Single;DP=12;PC=0.649;Gene=ZYG11B/NM_024646.2/1;CC=c.2044+174_2044+176delTTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:CTTT,C:10:0:0:6:7,3:237,148:0.00,7.75:0.00,0.00:0.00,7.75:0.00,0.59:0.00,0.00:0.00,0.59:60,60:9.3,17.3:0,2:0,0:141,62:10,89:3,38:-,NM_024646.2(ZYG11B) c.2044+152_2044+154delTTT:-,NOT_FOUND:-,NOT_FOUND 1 53287302 . T . . NT END=53308555;NT GT ./. 1 53308646 . G . . NT END=53320136;NT GT ./. 1 53320303 . G . . NT END=53322669;NT GT ./. 1 53323422 . G . . NT END=53326402;NT GT ./. 1 53323492 rs10788945 C A 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.09405,A/0.906;PC=0.004;Gene=ZYG11A/NM_001004339.2/1;CC=c.1008+71C>A;VC=Intron;Gene=ZYG11A/NM_001307931.1/0;CC=c.-18-2911C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:6:0:0:8,13:229,442:20.62,0.00:2.83,0.00:17.79,0.00:0.99,0.00:0.93,0.00:1.00,0.00:60,60:58.0,4.8:0,0:0,0:83,122:55,28:15,11:NM_001004339.2(ZYG11A) c.1008+71C>A,-:0.89,-:NOT_FOUND,- 1 53326544 . G . . NT END=53329652;NT GT ./. 1 53329830 . G . . NT END=53332174;NT GT ./. 1 53332240 . G . . NT END=53333210;NT GT ./. 1 53333311 . G . . NT END=53333398;NT GT ./. 1 53333450 . G . . NT END=53343353;NT GT ./. 1 53343516 . G . . NT END=53343596;NT GT ./. 1 53343642 . G . . NT END=53347142;NT GT ./. 1 53347338 . G . . NT END=53351504;NT GT ./. 1 53351567 . G . . NT END=53352627;NT GT ./. 1 53352726 . G . . NT END=53358453;NT GT ./. 1 53358630 . A . . NT END=53362191;NT GT ./. 1 53362270 . C . . NT END=53363108;NT GT ./. 1 53363157 . C . . NT END=53364845;NT GT ./. 1 53364897 . C . . NT END=53370317;NT GT ./. 1 53370506 . C . . NT END=53370705;NT GT ./. 1 53370763 . C . . NT END=53372190;NT GT ./. 1 53372284 . C . . NT END=53373539;NT GT ./. 1 53373627 . C . . NT END=53377237;NT GT ./. 1 53377326 . C . . NT END=53377394;NT GT ./. 1 53377694 . C . . NT END=53379566;NT GT ./. 1 53377881 rs34670458 G GT 12 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;Gene=ECHDC2/NM_001198961.1/1;CC=c.122-420_122-419insA;VC=Intron;Gene=ECHDC2/NM_001198962.1/0;CC=c.122-420_122-419insA;VC=Intron;Gene=ECHDC2/NM_018281.3/0;CC=c.122-420_122-419insA;VC=Intron;DM=ECHDC2/ECH_1;DM=ECHDC2/ECH_1;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:G,GT:10:0:6:0:6,4:155,187:0.00,11.65:0.00,0.00:0.00,11.65:0.00,0.80:0.00,0.00:0.00,0.80:60,60:22.2,39.8:0,2:0,0:72,110:78,34:31,12:-,NM_001198961.1(ECHDC2) c.122-420_122-419insA:-,NOT_FOUND:-,NOT_FOUND 1 53379768 . c . . NT END=53387154;NT GT ./. 1 53387592 . c . . NT END=53393068;NT GT ./. 1 53393138 . G . . NT END=53407467;NT GT ./. 1 53407526 . G . . NT END=53413680;NT GT ./. 1 53413753 . G . . NT END=53416426;NT GT ./. 1 53416559 . G . . NT END=53420411;NT GT ./. 1 53420477 . G . . NT END=53427174;NT GT ./. 1 53427302 . G . . NT END=53440440;NT GT ./. 1 53440505 . G . . NT END=53442354;NT GT ./. 1 53442442 . G . . NT END=53443888;NT GT ./. 1 53444040 . G . . NT END=53446067;NT GT ./. 1 53446216 . G . . NT END=53453700;NT GT ./. 1 53453809 . G . . NT END=53458929;NT GT ./. 1 53459905 . G . . NT END=53480561;NT GT ./. 1 53461467 rs72670834 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9898,A/0.01018;PC=1.000;Gene=SCP2/NM_001193599.1/0;CC=c.1009+7659G>A;VC=Intron;Gene=SCP2/NM_001193600.1/0;CC=c.949+7659G>A;VC=Intron;Gene=SCP2/NM_001193617.1/0;CC=c.838+7659G>A;VC=Intron;Gene=SCP2/NM_002979.4/1;CC=c.1081+7659G>A;VC=Intron;DM=SCP2/Thiolase_C;DM=SCP2/Thiolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G:14:13:0:0:5,9:172,246:15.66,0.00:12.62,0.00:3.05,0.00:0.90,0.00:0.99,0.00:0.88,0.00:60,60:36.4,40.8:0,0:0,0:108,53:43,98:4,18:NM_002979.4(SCP2) c.1081+7659G>A,-:0.01,-:NOT_FOUND,- 1 53480716 . G . . NT END=53493640;NT GT ./. 1 53493744 . G . . NT END=53504588;NT GT ./. 1 53504719 . G . . NT END=53513529;NT GT ./. 1 53513437 rs1288362 T C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7504,C/0.2496;Gene=SCP2/NM_001193599.1/0;CC=c.1397-93T>C;VC=Intron;Gene=SCP2/NM_001193600.1/0;CC=c.1337-93T>C;VC=Intron;Gene=SCP2/NM_001193617.1/0;CC=c.1226-93T>C;VC=Intron;Gene=SCP2/NM_002979.4/1;CC=c.1469-93T>C;VC=Intron;Gene=SCP2/NM_001007099.2/0;CC=c.257-93T>C;VC=Intron;Gene=SCP2/NM_001007100.2/0;CC=c.248-93T>C;VC=Intron;Gene=SCP2/NM_001007250.2/0;CC=c.127-93T>C;VC=Intron;DM=SCP2/SCP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:18:0:0:7,12:226,374:20.52,0.00:17.73,0.00:2.79,0.00:0.98,0.00:1.00,0.00:0.94,0.00:60,60:32.3,16.8:0,0:0,0:66,37:85,112:38,23:NM_002979.4(SCP2) c.1469-93T>C,-:0.29,-:NOT_FOUND,- 1 53513610 . G . . NT END=53516280;NT GT ./. 1 53516377 . A . . NT END=53527891;NT GT ./. 1 53527981 . G . . NT END=53529041;NT GT ./. 1 53529232 . G . . NT END=53532483;NT GT ./. 1 53532540 . G . . NT END=53535472;NT GT ./. 1 53535478 rs1288386 G A 207 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=140;DB;DBA=NA;PAF=G/0.6426,A/0.3574;Gene=PODN/NM_001199080.1/1;CC=c.38G>A;ProtCh=p.R13H;VC=Missense;Gene=PODN/NM_001199082.1/0;CC=c.95G>A;ProtCh=p.R32H;VC=Missense;Gene=PODN/NM_153703.4/0;CC=c.95G>A;ProtCh=p.R32H;VC=Missense;Gene=PODN/NM_001199081.1/0;CC=c.38G>A;ProtCh=p.R13H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:140:113:0:0:69,71:2164,2243:207.00,0.00:131.35,0.00:75.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,4.3:0,0:0,0:71,42:80,106:27,22:NM_153703.4(PODN) c.95G>A (p.Arg32His),-:0.38,-:0.340798,- 1 53535840 . G . . NT END=53537206;NT GT ./. 1 53537266 rs1769316 G A 70 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.4439,A/0.5561;Gene=PODN/NM_001199080.1/1;CC=c.459G>A;ProtCh=p.T153=;VC=Silent;Gene=PODN/NM_001199082.1/0;CC=c.456+1427G>A;VC=Intron;Gene=PODN/NM_153703.4/0;CC=c.516G>A;ProtCh=p.T172=;VC=Silent;Gene=PODN/NM_001199081.1/0;CC=c.459G>A;ProtCh=p.T153=;VC=Silent;DM=PODN/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:35:0:0:23,33:752,1110:69.70,0.00:23.07,0.00:46.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,8.8:0,0:0,0:92,69:43,62:28,34:NM_153703.4(PODN) c.516G>A (p.(=)),-:0.55,-:0.487235,- 1 53537301 . G . . NT END=53540277;NT GT ./. 1 53537396 rs34107528 G A 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9794,A/0.02057;Gene=PODN/NM_001199080.1/1;CC=c.493+96G>A;VC=Intron;Gene=PODN/NM_001199082.1/0;CC=c.456+1557G>A;VC=Intron;Gene=PODN/NM_153703.4/0;CC=c.550+96G>A;VC=Intron;Gene=PODN/NM_001199081.1/0;CC=c.493+96G>A;VC=Intron;DM=PODN/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,G:12:0:0:0:7,5:223,163:22.10,0.00:0.00,0.00:22.10,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:49.6,11.8:0,0:0,0:52,120:99,31:23,14:NM_153703.4(PODN) c.550+96G>A,-:0.03,-:NOT_FOUND,- 1 53540343 . G . . NT END=53541533;NT GT ./. 1 53541644 . G . . NT END=53542861;NT GT ./. 1 53543019 . G . . NT END=53543356;NT GT ./. 1 53543112 rs946590 C G 134 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.1663,G/0.8337;PC=0.026;Gene=PODN/NM_001199080.1/1;CC=c.825+94C>G;VC=Intron;Gene=PODN/NM_001199082.1/0;CC=c.457-245C>G;VC=Intron;Gene=PODN/NM_153703.4/0;CC=c.882+94C>G;VC=Intron;Gene=PODN/NM_001199081.1/0;CC=c.825+94C>G;VC=Intron;DM=PODN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:9:0:0:37:1160:133.51:26.52:106.98:1.00:1.00:1.00:60:36.9:0:0:85:66:33:NM_153703.4(PODN) c.882+94C>G,NM_153703.4(PODN) c.882+94C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 53543312 rs12745973 C T 116 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.861,T/0.139;Gene=PODN/NM_001199080.1/1;CC=c.826-45C>T;VC=Intron;Gene=PODN/NM_001199082.1/0;CC=c.457-45C>T;VC=Intron;Gene=PODN/NM_153703.4/0;CC=c.883-45C>T;VC=Intron;Gene=PODN/NM_001199081.1/0;CC=c.826-45C>T;VC=Intron;DM=PODN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:53:0:0:24,35:774,1164:0.00,115.77:0.00,77.39:0.00,38.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,43.9:0,0:0,0:42,62:105,89:18,39:-,NM_153703.4(PODN) c.883-45C>T:-,0.14:-,0.164001 1 53543473 . G . . NT END=53544036;NT GT ./. 1 53544439 rs1288388 G A 289 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=168;DB;DBA=NA;PAF=G/0.5895,A/0.4105,T/.;PC=0.034;Gene=PODN/NM_001199080.1/1;CC=c.1344G>A;ProtCh=p.P448=;VC=Silent;Gene=PODN/NM_001199082.1/0;CC=c.975G>A;ProtCh=p.P325=;VC=Silent;Gene=PODN/NM_153703.4/0;CC=c.1401G>A;ProtCh=p.P467=;VC=Silent;Gene=PODN/NM_001199081.1/0;CC=c.1344G>A;ProtCh=p.P448=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:168:113:0:0:92,76:2956,2435:289.19,0.00:167.70,0.00:121.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,11.8:0,0:0,0:86,61:65,89:33,43:NM_153703.4(PODN) c.1401G>A (p.(=)),-:0.46,-:0.570967,- 1 53544578 rs11206088 T C 228 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.8604,C/0.1396;PC=0.062;Gene=PODN/NM_001199080.1/1;CC=c.1483T>C;ProtCh=p.L495=;VC=Silent;Gene=PODN/NM_001199082.1/0;CC=c.1114T>C;ProtCh=p.L372=;VC=Silent;Gene=PODN/NM_153703.4/0;CC=c.1540T>C;ProtCh=p.L514=;VC=Silent;Gene=PODN/NM_001199081.1/0;CC=c.1483T>C;ProtCh=p.L495=;VC=Silent;DM=PODN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:149:82:0:0:71,78:2386,2512:227.71,0.00:88.15,0.00:139.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.4,35.0:0,0:0,0:78,81:71,69:36,36:NM_153703.4(PODN) c.1540T>C (p.(=)),-:0.13,-:0.157534,- 1 53544597 rs1288389 T C 514 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.4391,C/0.5609,G/.;PC=0.957;Gene=PODN/NM_001199080.1/1;CC=c.1502T>C;ProtCh=p.V501A;VC=Missense;Gene=PODN/NM_001199082.1/0;CC=c.1133T>C;ProtCh=p.V378A;VC=Missense;Gene=PODN/NM_153703.4/0;CC=c.1559T>C;ProtCh=p.V520A;VC=Missense;Gene=PODN/NM_001199081.1/0;CC=c.1502T>C;ProtCh=p.V501A;VC=Missense;DM=PODN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:144:74:0:0:143,1:4479,13:513.83,0.00:188.45,0.00:325.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.3,90.0:0,0:0,0:92,3:54,148:34,0:NM_153703.4(PODN) c.1559T>C (p.Val520Ala),NM_153703.4(PODN) c.1559T>C (p.Val520Ala):0.6,0.6:0.745989,0.745989 1 53544695 . G . . NT END=53546399;NT GT ./. 1 53546173 rs1288395 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=421;Gene=PODN/NM_001199080.1/1;CC=c.1600-227A>G;VC=Intron;Gene=PODN/NM_001199082.1/0;CC=c.1231-227A>G;VC=Intron;Gene=PODN/NM_153703.4/0;CC=c.1657-227A>G;VC=Intron;Gene=PODN/NM_001199081.1/0;CC=c.1600-227A>G;VC=Intron;DM=PODN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:44.2:0:0:10:138:5:NM_153703.4(PODN) c.1657-227A>G,NM_153703.4(PODN) c.1657-227A>G:1,1:NOT_FOUND,NOT_FOUND 1 53546549 . G . . NT END=53547652;NT GT ./. 1 53547834 . T . . NT END=53553680;NT GT ./. 1 53553522 rs11581058 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8662,A/0.1338;Gene=SLC1A7/NM_001287595.1/0;CC=c.*159C>T;VC=3UTR;Gene=SLC1A7/NM_001287597.1/0;CC=c.*226C>T;VC=3UTR;Gene=SLC1A7/NM_006671.5/1;CC=c.*159C>T;VC=3UTR;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G:8:8:0:0:5,3:150,92:15.08,0.00:15.08,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:45.6,52.7:0,0:0,0:71,92:80,32:55,28:NM_006671.4(SLC1A7) c.*159C>T,-:0.13,-:NOT_FOUND,- 1 53553702 rs1288400 A G 241 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.05711,G/0.9429;Gene=SLC1A7/NM_001287595.1/0;CC=c.1839T>C;ProtCh=p.S613=;VC=Silent;Gene=SLC1A7/NM_001287597.1/0;CC=c.*46T>C;VC=3UTR;Gene=SLC1A7/NM_006671.5/1;CC=c.1662T>C;ProtCh=p.S554=;VC=Silent;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G,T:69:64:0:0:67,2:2101,26:241.15,0.84:181.02,0.84:60.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.7,56.5:0,0:0,0:50,105:99,45:28,24:NM_006671.4(SLC1A7) c.1662T>C (p.(=)),NM_006671.4(SLC1A7) c.1662T>C (p.(=)):0.96,0.96:0.942796,0.942796 1 53553754 rs1288401 T C 137 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.5899,C/0.4101;PC=1.000;Gene=SLC1A7/NM_001287595.1/0;CC=c.1787A>G;ProtCh=p.Q596R;VC=Missense;Gene=SLC1A7/NM_001287597.1/0;CC=c.1413A>G;ProtCh=p.A471=;VC=Silent;Gene=SLC1A7/NM_006671.5/1;CC=c.1610A>G;ProtCh=p.Q537R;VC=Missense;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:76:0:0:45,52:1447,1776:137.08,0.00:92.09,0.00:44.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.3,20.4:0,0:0,0:68,59:77,74:40,28:NM_006671.4(SLC1A7) c.1610A>G (p.Gln537Arg),-:0.46,-:0.570583,- 1 53553919 . C . . NT END=53554548;NT GT ./. 1 53554406 rs11583585 T C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8658,C/0.1342;Gene=SLC1A7/NM_001287595.1/0;CC=c.1641+143A>G;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.1248+143A>G;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.1464+143A>G;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:10:10:0:0:5,5:163,151:15.67,0.00:15.67,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:37.2,15.8:0,0:0,0:45,56:106,95:38,41:NM_006671.4(SLC1A7) c.1464+143A>G,-:0.13,-:NOT_FOUND,- 1 53554533 rs398102718 A AT 77 nt VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.866,AT/0.134;DB;DBA=NA;PAF=A/0.866,AT/0.134;NP=952;Gene=SLC1A7/NM_001287595.1/0;CC=c.1641+15dupA;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.1248+15dupA;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.1464+15dupA;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AT:54:45:26:0:27,1,26:856,9,803:0.00,-0.09,76.77:0.00,0.00,55.51:0.00,-0.09,21.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.9,34.0,10.6:0,0,0:0,0,0:43,34,21:107,117,126:13,0,14:-,NM_006671.4(SLC1A7) c.1464+15_1464+16insA:-,0.13:-,0.159984 1 53554652 . C . . NT END=53555471;NT GT ./. 1 53555607 . C . . NT END=53556283;NT GT ./. 1 53555783 rs1288403 A C 74 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4533,C/0.5467;Gene=SLC1A7/NM_001287595.1/0;CC=c.1404-177T>G;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.1011-177T>G;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.1227-177T>G;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:0:0:0:20:647:74.19:0.00:74.19:1.00:0.00:1.00:60:44.9:0:0:97:53:33:NM_006671.4(SLC1A7) c.1227-177T>G,NM_006671.4(SLC1A7) c.1227-177T>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 53556656 . c . . NT END=53558225;NT GT ./. 1 53558270 rs1288406 A G 96 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.154,G/0.846;Gene=SLC1A7/NM_001287595.1/0;CC=c.987T>C;ProtCh=p.R329=;VC=Silent;Gene=SLC1A7/NM_001287597.1/0;CC=c.771T>C;ProtCh=p.R257=;VC=Silent;Gene=SLC1A7/NM_006671.5/1;CC=c.987T>C;ProtCh=p.R329=;VC=Silent;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:47:0:0:29,33:881,986:0.00,95.62:0.00,50.64:0.00,44.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.7,45.2:0,0:0,0:52,60:98,81:33,29:-,NM_006671.4(SLC1A7) c.987T>C (p.(=)):-,0.86:-,0.813548 1 53558460 . C . . NT END=53559132;NT GT ./. 1 53558583 rs397717541 C CTG 62 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.03994,CTG/0.9601;DB;DBA=NA;PAF=C/0.03994,CTG/0.9601;NP=1;NP=1920;Gene=SLC1A7/NM_001287595.1/0;CC=c.798-126_798-125dupCA;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.582-126_582-125dupCA;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.798-126_798-125dupCA;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:C,CTG:18:0:17:0:1,17:10,556:0.00,62.24:0.00,0.00:0.00,62.24:0.00,1.00:0.00,0.00:0.00,1.00:60,60:202.0,7.5:1,0:0,0:51,111:98,40:0,20:NM_006671.4(SLC1A7) c.798-125_798-124insCA,NM_006671.4(SLC1A7) c.798-125_798-124insCA:0.97,0.97:NOT_FOUND,NOT_FOUND 1 53559233 . C . . NT END=53569017;NT GT ./. 1 53559310 rs11206091 T C 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.1693,C/0.8307;Gene=SLC1A7/NM_001287595.1/0;CC=c.698-78A>G;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.482-78A>G;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.698-78A>G;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:19:0:0:19,30:607,937:55.57,0.00:16.40,0.00:39.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,10.1:0,0:0,0:120,116:31,35:17,16:NM_006671.4(SLC1A7) c.698-78A>G,-:0.85,-:NOT_FOUND,- 1 53559409 rs35112358 G GTCT 13 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.147,GTCT/0.853,GTTC/.;NP=130;Gene=SLC1A7/NM_001287595.1/0;CC=c.698-178_698-177insAGA;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.482-178_482-177insAGA;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.698-178_698-177insAGA;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:G,GTCT:13:0:5:0:8,5:230,148:0.00,13.43:0.00,0.00:0.00,13.43:0.00,0.91:0.00,0.00:0.00,0.91:60,60:43.9,26.8:0,0:0,0:122,80:29,71:22,26:-,NM_006671.4(SLC1A7) c.698-178_698-177insAGA:-,NOT_FOUND:-,NOT_FOUND 1 53568878 rs11206100 T A 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8299,A/0.1701;Gene=SLC1A7/NM_001287595.1/0;CC=c.697+140A>T;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.481+140A>T;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.697+140A>T;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:A,T:16:16:0:0:5,11:165,300:14.58,0.00:14.58,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:60,60:62.8,19.5:0,0:0,0:26,48:123,103:23,26:NM_006671.4(SLC1A7) c.697+140A>T,-:0.19,-:NOT_FOUND,- 1 53568980 rs2242274 G A 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.8079,A/0.1921;PC=0.001;Gene=SLC1A7/NM_001287595.1/0;CC=c.697+38C>T;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.481+38C>T;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.697+38C>T;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:44:0:0:21,29:708,778:66.19,0.00:55.80,0.00:10.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,22.0:0,0:0,0:55,40:93,111:30,19:NM_006671.4(SLC1A7) c.697+38C>T,-:0.2,-:0.197395,- 1 53569241 . C . . NT END=53571403;NT GT ./. 1 53569399 rs1288420 A G 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1286,C/.,G/0.8714;Gene=SLC1A7/NM_001287595.1/0;CC=c.475-159T>C;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.259-159T>C;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.475-159T>C;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:12:0:0:0:4,8:125,279:0.00,28.40:0.00,0.00:0.00,28.40:0.00,1.00:0.00,0.00:0.00,1.00:60,60:20.0,38.0:0,0:0,0:94,93:56,57:49,11:-,NM_006671.4(SLC1A7) c.475-159T>C:-,0.88:-,NOT_FOUND 1 53571288 rs1288422 C G 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.03554,G/0.9645;Gene=SLC1A7/NM_001287595.1/0;CC=c.474+116G>C;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.258+116G>C;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.474+116G>C;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;DM=SLC1A7/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C,G:11:11:0:0:1,10:11,309:0.00,34.32:0.00,30.53:0.00,3.79:0.00,1.00:0.00,1.00:0.00,0.99:60,60:34.0,47.2:0,0:0,0:113,69:24,82:0,27:NM_006671.4(SLC1A7) c.474+116G>C,NM_006671.4(SLC1A7) c.474+116G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 53571447 . C . . NT END=53580429;NT GT ./. 1 53580646 . C . . NT END=53600021;NT GT ./. 1 53600102 . C . . NT END=53607986;NT GT ./. 1 53607724 rs1288365 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.01637,G/0.9836;Gene=SLC1A7/NM_001287595.1/0;CC=c.135+263T>C;VC=Intron;Gene=SLC1A7/NM_001287597.1/0;CC=c.135+263T>C;VC=Intron;Gene=SLC1A7/NM_006671.5/1;CC=c.135+263T>C;VC=Intron;Gene=SLC1A7/NR_109858.1/0;VC=NonCoding;Gene=SLC1A7/NM_001287596.1/0;CC=c.135+263T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:107:12.59:12.59:0.00:1.00:1.00:0.00:60:61.2:0:0:22:126:10:NM_006671.4(SLC1A7) c.135+263T>C,NM_006671.4(SLC1A7) c.135+263T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 53608122 . G . . NT END=53662615;NT GT ./. 1 53639377 rs11587505 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4669,G/0.5331;NP=108;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:5:3:0:1:2,3:62,90:0.00,8.97:0.00,6.21:0.00,2.76:0.00,0.78:0.00,0.94:0.00,0.94:70,60:78.0,95.7:1,0:0,0:64,50:84,98:41,16:-,chr1 g.53639376A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 53639387 rs28661606 G A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=47;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:5:4:0:0:4,1:134,32:14.22,0.00:8.75,0.00:5.47,0.00:0.96,0.00:1.00,0.00:0.97,0.00:70,60:100.0,0.0:1,0:0,0:62,95:87,30:18,0:chr1 g.53639386G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 53639389 rs55777972 G A,ACACACACACACA 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,G,ACACACACACACA:5:4:1:0:3,1,1:95,32,34:9.87,0.00,3.08:6.51,0.00,1.49:3.35,0.00,1.59:0.78,0.00,0.00:0.97,0.00,0.00:0.87,0.00,0.00:60,60,70:110.3,0.0,69.0:0,0,0:0,0,0:72,97,35:76,28,116:16,0,0:chr1 g.53639388G>A (intergenic),chr1 g.53639389delGinsACACACACACACA (intergenic):0.36,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 53658630 rs60711962 AAC A 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AAC/0.496,A/0.504;DB;DBA=NA;PAF=AAC/0.496,A/0.504;NP=27;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:AAC,A:5:4:0:3:2,3:68,92:0.00,9.17:0.00,2.61:0.00,6.56:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,10.0:0,0:0,0:60,58:90,65:10,23:-,NM_000098.2(CPT2) c.-515-u3470_-515-u3469delAC:-,NOT_FOUND:-,NOT_FOUND 1 53662768 . G . . NT END=53666390;NT GT ./. 1 53666472 . G . . NT END=53667994;NT GT ./. 1 53668102 . G . . NT END=53675686;NT GT ./. 1 53675532 rs12737375 T C 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7718,C/0.2282;Gene=CPT2/NM_000098.2/1;CC=c.341-155T>C;VC=Intron;DM=CPT2/Carn_acyltransf GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:278:32.09:32.09:0.00:1.00:1.00:0.00:60:46.7:0:0:40:111:24:NM_000098.2(CPT2) c.341-155T>C,NM_000098.2(CPT2) c.341-155T>C:0.27,0.27:NOT_FOUND,NOT_FOUND 1 53676448 rs1799821 G A 468 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=131;DB;DBA=in-clinvar;PAF=G/0.5869,A/0.4131;Gene=CPT2/NM_000098.2/1;CC=c.1102G>A;ProtCh=p.V368I;VC=Missense;DM=CPT2/Carn_acyltransf GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:131:81:0:0:129,1,1:4090,11,19:467.66,0.10,0.00:233.53,0.10,0.00:234.12,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,112.0,0.0:0,0,0:0,0,0:78,85,86:69,65,65:38,0,0:NM_000098.2(CPT2) c.1102G>A (p.Val368Ile),NM_000098.2(CPT2) c.1102G>A (p.Val368Ile):0.5,0.5:0.456405,0.456405 1 53676992 . G . . NT END=53678935;NT GT ./. 1 53679268 . C . . NT END=53680330;NT GT ./. 1 53680090 rs1056425 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7764,A/0.2236;PC=0.003;Gene=C1orf123/NM_001304759.1/0;CC=c.*241C>T;VC=3UTR;Gene=C1orf123/NM_001304760.1/0;CC=c.*241C>T;VC=3UTR;Gene=C1orf123/NM_017887.2/1;CC=c.*241C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:133:15.65:15.65:0.00:1.00:1.00:0.00:60:74.0:0:0:17:134:12:NM_017887.1(C1orf123) c.*241C>T,NM_017887.1(C1orf123) c.*241C>T:0.27,0.27:NOT_FOUND,NOT_FOUND 1 53680409 . C . . NT END=53681662;NT GT ./. 1 53681729 . C . . NT END=53682453;NT GT ./. 1 53682532 . C . . NT END=53683843;NT GT ./. 1 53683876 . C . . NT END=53684085;NT GT ./. 1 53683921 rs12140585 C G 157 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7702,A/.,G/0.2298;Gene=C1orf123/NM_001304759.1/0;CC=c.173-46G>C;VC=Intron;Gene=C1orf123/NM_001304760.1/0;CC=c.89-46G>C;VC=Intron;Gene=C1orf123/NM_017887.2/1;CC=c.230-46G>C;VC=Intron;DM=C1orf123/DUF866 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:24:0:0:42:1373:157.30:78.64:78.67:1.00:1.00:1.00:60:39.1:0:0:88:61:38:NM_017887.1(C1orf123) c.230-46G>C,NM_017887.1(C1orf123) c.230-46G>C:0.27,0.27:0.243195,0.243195 1 53684168 . C . . NT END=53684538;NT GT ./. 1 53684324 rs3736118 A G 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7704,G/0.2296;PC=0.020;Gene=C1orf123/NM_001304759.1/0;CC=c.91-157T>C;VC=Intron;Gene=C1orf123/NM_001304760.1/0;CC=c.7-157T>C;VC=Intron;Gene=C1orf123/NM_017887.2/1;CC=c.148-157T>C;VC=Intron;DM=C1orf123/DUF866 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:2:0:0:9:258:30.05:8.05:21.99:1.00:1.00:1.00:60:61.1:0:0:84:67:26:NM_017887.1(C1orf123) c.148-157T>C,NM_017887.1(C1orf123) c.148-157T>C:0.27,0.27:NOT_FOUND,NOT_FOUND 1 53684525 rs436887 C G 115 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=C1orf123/NM_001304759.1/0;CC=c.91-358G>C;VC=Intron;Gene=C1orf123/NM_001304760.1/0;CC=c.7-358G>C;VC=Intron;Gene=C1orf123/NM_017887.2/1;CC=c.147+14G>C;VC=Intron;DM=C1orf123/DUF866 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:26:0:0:32:994:114.59:84.42:30.17:1.00:1.00:1.00:60:43.8:0:0:48:96:26:NM_017887.1(C1orf123) c.147+14G>C,NM_017887.1(C1orf123) c.147+14G>C:0.84,0.84:0.766185,0.766185 1 53684596 . C . . NT END=53685932;NT GT ./. 1 53686017 . C . . NT END=53686241;NT GT ./. 1 53686248 . G . . NT END=53692716;NT GT ./. 1 53686383 rs1679913 C G 119 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.2025,G/0.7975 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:8:0:0:32:1037:118.96:17.00:101.96:1.00:1.00:1.00:60:38.4:0:0:104:45:22:NM_017887.1(C1orf123) c.-42-u94G>C,NM_017887.1(C1orf123) c.-42-u94G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 53692817 . C . . NT END=53694543;NT GT ./. 1 53694388 rs2275087 T C 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7544,C/0.2456;PC=0.005;Gene=MAGOH/NM_002370.3/1;CC=c.341+156A>G;VC=Intron;DM=MAGOH/Mago_nashi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:312:35.92:35.92:0.00:1.00:1.00:0.00:60:38.4:0:0:45:105:18:NM_002370.3(MAGOH) c.341+156A>G,NM_002370.3(MAGOH) c.341+156A>G:0.29,0.29:NOT_FOUND,NOT_FOUND 1 53694627 . C . . NT END=53699213;NT GT ./. 1 53699129 rs17192655 G C 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.9573,C/0.04273;PC=0.046;Gene=MAGOH/NM_002370.3/1;CC=c.258+85C>G;VC=Intron;DM=MAGOH/Mago_nashi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,G:21:21:0:0:5,16:175,504:14.88,0.00:14.94,0.00:-0.06,0.00:0.85,0.00:0.85,0.00:0.49,0.00:60,60:36.4,8.2:0,0:0,0:127,66:23,84:6,43:NM_002370.3(MAGOH) c.258+85C>G,-:0.06,-:NOT_FOUND,- 1 53699325 . C . . NT END=53701248;NT GT ./. 1 53701308 . C . . NT END=53704032;NT GT ./. 1 53701581 rs2297656 A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7167,G/0.2833;PC=0.118;Gene=MAGOH/NM_002370.3/1;CC=c.89-274T>C;VC=Intron;DM=MAGOH/Mago_nashi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:86.8:0:0:110:40:20:NM_002370.3(MAGOH) c.89-274T>C,NM_002370.3(MAGOH) c.89-274T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 1 53704121 . G . . NT END=53712689;NT GT ./. 1 53712727 rs5174 C T 155 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=in-clinvar;PAF=C/0.8556,T/0.1444;PC=1.000;Gene=LRP8/NM_001018054.2/0;CC=c.2678G>A;ProtCh=p.R893Q;VC=Missense;Gene=LRP8/NM_004631.4/1;CC=c.2855G>A;ProtCh=p.R952Q;VC=Missense;Gene=LRP8/NM_017522.4/0;CC=c.2066G>A;ProtCh=p.R689Q;VC=Missense;Gene=LRP8/NM_033300.3/0;CC=c.2345G>A;ProtCh=p.R782Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:T:42:29:0:0:42:1355:155.45:75.69:79.77:1.00:1.00:1.00:60:45.6:0:0:72:77:24:NM_004631.4(LRP8) c.2855G>A (p.Arg952Gln),NM_004631.4(LRP8) c.2855G>A (p.Arg952Gln):0.18,0.18:0.289559,0.289559 1 53712729 . C . . NT END=53715051;NT GT ./. 1 53715229 . C . . NT END=53716361;NT GT ./. 1 53716416 rs3737983 G A 343 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.6292,A/0.3708,T/.;PC=0.107;Gene=LRP8/NM_001018054.2/0;CC=c.2622C>T;ProtCh=p.D874=;VC=Silent;Gene=LRP8/NM_004631.4/1;CC=c.2622C>T;ProtCh=p.D874=;VC=Silent;Gene=LRP8/NM_017522.4/0;CC=c.2010C>T;ProtCh=p.D670=;VC=Silent;Gene=LRP8/NM_033300.3/0;CC=c.2112C>T;ProtCh=p.D704=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:94:72:0:0:94:2988:343.47:216.11:127.36:1.00:1.00:1.00:60:44.4:0:0:68:80:36:NM_004631.4(LRP8) c.2622C>T (p.(=)),NM_004631.4(LRP8) c.2622C>T (p.(=)):0.43,0.43:0.362448,0.362448 1 53716535 . C . . NT END=53720788;NT GT ./. 1 53720858 . C . . NT END=53722911;NT GT ./. 1 53722752 rs2297663 A C 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7294,C/0.2706;Gene=LRP8/NM_001018054.2/0;CC=c.2434+160T>G;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.2434+160T>G;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.1822+1239T>G;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.1924+160T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:557:63.81:63.81:0.00:1.00:1.00:0.00:60:38.6:0:0:31:120:27:NM_004631.4(LRP8) c.2434+160T>G,NM_004631.4(LRP8) c.2434+160T>G:0.32,0.32:NOT_FOUND,NOT_FOUND 1 53723137 . C . . NT END=53723990;NT GT ./. 1 53723190 rs869987 G T 217 nt VT=SNV;PN=G;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.6144,T/0.3856;Gene=LRP8/NM_001018054.2/0;CC=c.2210-54C>A;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.2210-54C>A;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.1822+801C>A;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.1700-54C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:A,T:61:12:0:0:1,60:10,1887:0.15,216.78:0.15,24.21:0.00,192.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:114.0,41.0:0,0:0,0:110,103:41,46:0,28:NM_004631.4(LRP8) c.2210-54C>A,NM_004631.4(LRP8) c.2210-54C>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 53723349 rs869988 T C 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.623,C/0.377;PC=0.001;Gene=LRP8/NM_001018054.2/0;CC=c.2210-213A>G;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.2210-213A>G;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.1822+642A>G;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.1700-213A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:220:25.33:0.00:25.33:1.00:0.00:1.00:60:47.6:0:0:88:62:5:NM_004631.4(LRP8) c.2210-213A>G,NM_004631.4(LRP8) c.2210-213A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 53724144 . C . . NT END=53726135;NT GT ./. 1 53726278 . C . . NT END=53727739;NT GT ./. 1 53727880 . C . . NT END=53728117;NT GT ./. 1 53728237 . C . . NT END=53729840;NT GT ./. 1 53730069 . C . . NT END=53732144;NT GT ./. 1 53732315 rs2297660 G T 220 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.6647,T/0.3353;PC=1.000;Gene=LRP8/NM_001018054.2/0;CC=c.1257C>A;ProtCh=p.G419=;VC=Silent;Gene=LRP8/NM_004631.4/1;CC=c.1257C>A;ProtCh=p.G419=;VC=Silent;Gene=LRP8/NM_017522.4/0;CC=c.870C>A;ProtCh=p.G290=;VC=Silent;Gene=LRP8/NM_033300.3/0;CC=c.747C>A;ProtCh=p.G249=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:T:58:28:0:0:58:1921:219.76:63.37:156.39:1.00:1.00:1.00:60:36.7:0:0:81:55:25:NM_004631.4(LRP8) c.1257C>A (p.(=)),NM_004631.4(LRP8) c.1257C>A (p.(=)):0.4,0.4:0.342534,0.342534 1 53732320 . C . . NT END=53736699;NT GT ./. 1 53736613 rs7542607 A G 260 nt VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.6647,G/0.3353;Gene=LRP8/NM_001018054.2/0;CC=c.1252+87T>C;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.1252+87T>C;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.865+87T>C;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.742+87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:73:72:0:0:73:2254:260.17:221.60:38.57:1.00:1.00:1.00:60:38.6:0:0:32:119:20:NM_004631.4(LRP8) c.1252+87T>C,NM_004631.4(LRP8) c.1252+87T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 1 53736826 . C . . NT END=53736898;NT GT ./. 1 53737019 . C . . NT END=53738275;NT GT ./. 1 53738100 rs10788952 C T 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6352,T/0.3648;PC=0.211;Gene=LRP8/NM_001018054.2/0;CC=c.1007-1082G>A;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.1007-1082G>A;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.620-1082G>A;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.497-1082G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:392:45.80:45.80:0.00:1.00:1.00:0.00:60:66.6:0:0:68:82:26:NM_004631.4(LRP8) c.1007-1082G>A,NM_004631.4(LRP8) c.1007-1082G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 53738183 rs7546246 A G 136 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.6062,G/0.3938;PC=0.005;Gene=LRP8/NM_001018054.2/0;CC=c.1007-1165T>C;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.1007-1165T>C;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.620-1165T>C;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.497-1165T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:G:36:34:0:0:36:1184:135.52:122.80:12.72:1.00:1.00:1.00:60:48.2:0:0:40:111:27:NM_004631.4(LRP8) c.1007-1165T>C,NM_004631.4(LRP8) c.1007-1165T>C:0.45,0.45:NOT_FOUND,NOT_FOUND 1 53738315 . C . . NT END=53741302;NT GT ./. 1 53741426 . C . . NT END=53742363;NT GT ./. 1 53742506 rs56300220 A G 748 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=198;DB;DBA=NA;PAF=A/0.63,G/0.37;Gene=LRP8/NM_001018054.2/0;CC=c.741T>C;ProtCh=p.R247=;VC=Silent;Gene=LRP8/NM_004631.4/1;CC=c.741T>C;ProtCh=p.R247=;VC=Silent;Gene=LRP8/NM_017522.4/0;CC=c.497-1081T>C;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.496+3753T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:198:149:0:0:198:6537:747.87:408.81:339.07:1.00:1.00:1.00:60:42.8:0:0:61:83:34:NM_004631.4(LRP8) c.741T>C (p.(=)),NM_004631.4(LRP8) c.741T>C (p.(=)):0.41,0.41:NOT_FOUND,NOT_FOUND 1 53742751 . C . . NT END=53746258;NT GT ./. 1 53746134 rs1288518 G A 167 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.6286,A/0.3714;Gene=LRP8/NM_001018054.2/0;CC=c.496+125C>T;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.496+125C>T;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.496+125C>T;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.496+125C>T;VC=Intron;DM=LRP8/Ldl_recept_b;DM=LRP8/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:46:0:0:47:1451:167.33:162.12:5.21:1.00:1.00:1.00:60:38.0:0:0:45:105:30:NM_004631.4(LRP8) c.496+125C>T,NM_004631.4(LRP8) c.496+125C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 53746388 . C . . NT END=53755238;NT GT ./. 1 53746595 rs2297657 A T 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.737,T/0.263;Gene=LRP8/NM_001018054.2/0;CC=c.368-208T>A;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.368-208T>A;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.368-208T>A;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.368-208T>A;VC=Intron;DM=LRP8/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:485:56.52:0.00:56.52:1.00:0.00:1.00:60:41.9:0:0:129:21:14:NM_004631.4(LRP8) c.368-208T>A,NM_004631.4(LRP8) c.368-208T>A:0.31,0.31:NOT_FOUND,NOT_FOUND 1 53755151 rs12035577 T C 188 nt VT=SNV;PN=T;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.647,C/0.353;Gene=LRP8/NM_001018054.2/0;CC=c.367+88A>G;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.367+88A>G;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.367+88A>G;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.367+88A>G;VC=Intron;DM=LRP8/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:108:104:0:0:59,49:1920,1496:187.83,0.00:162.72,0.00:25.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,5.8:0,0:0,0:54,47:97,103:29,29:NM_004631.4(LRP8) c.367+88A>G,-:0.41,-:NOT_FOUND,- 1 53755362 . C . . NT END=53792544;NT GT ./. 1 53755679 rs12039021 A C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6601,C/0.3399;Gene=LRP8/NM_001018054.2/0;CC=c.245-318T>G;VC=Intron;Gene=LRP8/NM_004631.4/1;CC=c.245-318T>G;VC=Intron;Gene=LRP8/NM_017522.4/0;CC=c.245-318T>G;VC=Intron;Gene=LRP8/NM_033300.3/0;CC=c.245-318T>G;VC=Intron;DM=LRP8/Ldl_recept_b;DM=LRP8/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C:7:0:0:0:2,5:64,156:0.00,16.17:0.00,0.00:0.00,16.17:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,38.6:0,0:0,0:116,112:34,39:16,10:-,NM_004631.4(LRP8) c.245-318T>G:-,0.39:-,NOT_FOUND 1 53792665 . C . . NT END=53793460;NT GT ./. 1 53793585 . g . . NT END=53925126;NT GT ./. 1 53793688 rs540211244 C CCCGCCG 7 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=2;PC=0.008;Gene=LRP8/NM_001018054.2/0;CC=c.-105_-104insCGGCGG;VC=5UTR;Gene=LRP8/NM_004631.4/1;CC=c.-105_-104insCGGCGG;VC=5UTR;Gene=LRP8/NM_017522.4/0;CC=c.-105_-104insCGGCGG;VC=5UTR;Gene=LRP8/NM_033300.3/0;CC=c.-105_-104insCGGCGG;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,C,T,CCCGCCG,D:24:1:3:1:1,18,1,3,1:9,553,10,91,30:-0.07,0.00,-0.01,6.78,1.77:-0.01,0.00,-0.01,-0.03,-0.01:-0.06,0.00,-0.00,6.81,1.78:0.00,0.00,0.00,0.47,0.00:0.00,0.00,0.00,0.42,0.00:0.00,0.00,0.00,0.47,0.00:60,60,60,70,60:100.0,16.2,84.0,33.3,11.0:0,0,0,0,0:0,0,0,0,0:94,111,80,109,91:57,40,71,42,60:0,35,0,17,0:-,NM_004631.4(LRP8) c.-125CGG[9]:-,NOT_FOUND:-,NOT_FOUND 1 53821616 rs67177209 C CTGTGTGTGTGTG 9 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6148,CTCTGTGTG/.,CTCTGTGTGTGTGTGTG/.,CTGTGTG/.,CTGTGTGTG/.,CTGTGTGTGTGTG/0.3852;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=2;PC=0.023;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CTGTGTGTGTGTG:4:3:5:0:1,3:35,153:0.00,9.03:0.00,2.73:0.00,6.30:0.00,0.73:0.00,0.89:0.00,0.51:60,60:35.0,109.7:0,2:0,0:98,67:23,84:0,17:-,chr1 g.53821616_53821617insTGTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 53925704 . G . . NT END=53927145;NT GT ./. 1 53927319 . G . . NT END=53930309;NT GT ./. 1 53930521 . G . . NT END=53932267;NT GT ./. 1 53932336 . G . . NT END=53972291;NT GT ./. 1 53972450 . C . . NT END=53974792;NT GT ./. 1 53974961 . C . . NT END=53975521;NT GT ./. 1 53974987 rs10749691 G T 228 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.4062,T/0.5938;Gene=GLIS1/NM_147193.2/1;CC=c.1538-27C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:G,T:63:31:0:0:1,62:10,2005:0.00,228.23:0.00,73.94:0.00,154.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,36.8:0,0:0,0:85,99:66,42:0,22:NM_147193.2(GLIS1) c.1538-27C>A,NM_147193.2(GLIS1) c.1538-27C>A:0.61,0.61:0.673261,0.673261 1 53975701 . C . . NT END=53980297;NT GT ./. 1 53980455 . C . . NT END=53986306;NT GT ./. 1 53980752 rs5774151 ATGTGTG A 13 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=ATGTGTG/0.1597,A/0.8403;DB;DBA=NA;PAF=ATGTGTG/0.1597,A/0.8403;NP=158;PC=0.017;Gene=GLIS1/NM_147193.2/1;CC=c.1202-304_1202-299delCACACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:ATGTGTG,A:7:5:0:6:3,4:97,196:0.00,12.73:0.00,10.07:0.00,2.66:0.00,0.85:0.00,0.94:0.00,0.96:60,60:8.3,16.5:0,2:0,0:150,37:1,114:0,15:-,NM_147193.2(GLIS1) c.1202-304_1202-299delCACACA:-,NOT_FOUND:-,NOT_FOUND 1 53986440 . C . . NT END=53990449;NT GT ./. 1 53986683 rs2316191 C T 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2139,T/0.7861;Gene=GLIS1/NM_147193.2/1;CC=c.1069-244G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:399:46.06:0.00:46.06:1.00:0.00:1.00:60:37.9:0:0:91:60:35:NM_147193.2(GLIS1) c.1069-244G>A,NM_147193.2(GLIS1) c.1069-244G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 53990321 rs541224 C T 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2188,T/0.7812;Gene=GLIS1/NM_147193.2/1;CC=c.1068+129G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G,T:12:12:0:0:1,11:22,300:1.60,34.71:1.60,34.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:96.0,40.5:0,0:0,0:126,24:23,127:0,20:NM_147193.2(GLIS1) c.1068+129G>A,NM_147193.2(GLIS1) c.1068+129G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 53990561 . C . . NT END=53995463;NT GT ./. 1 53990715 rs492600 T C 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.06609,C/0.9339;PC=0.001;Gene=GLIS1/NM_147193.2/1;CC=c.958-155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:211:24.75:0.00:24.75:1.00:0.00:1.00:60:32.0:0:0:96:54:34:NM_147193.2(GLIS1) c.958-155A>G,NM_147193.2(GLIS1) c.958-155A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 53995626 . C . . NT END=54059780;NT GT ./. 1 54060664 . C . . NT END=54065773;NT GT ./. 1 54065648 rs12116597 G A 65 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.2983,A/0.7017;PC=0.007;Gene=GLIS1/NM_147193.2/1;CC=c.-89+126C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:18:0:0:18:564:64.95:64.95:0.00:1.00:1.00:0.00:60:53.4:0:0:24:125:18:NM_147193.2(GLIS1) c.-89+126C>T,NM_147193.2(GLIS1) c.-89+126C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 54065778 rs12723437 C T 175 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.2983,T/0.7017;PC=0.980;Gene=GLIS1/NM_147193.2/1;CC=c.-93G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:G,T:52:47:0:0:1,51:12,1510:0.26,174.64:0.26,111.32:0.00,63.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:87.0,64.7:0,0:0,0:142,57:9,90:0,30:NM_147193.2(GLIS1) c.-93G>A,NM_147193.2(GLIS1) c.-93G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 54065831 rs12723875 G T 261 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.2983,T/0.7017;PC=0.891;Gene=GLIS1/NM_147193.2/1;CC=c.-146C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:50:0:0:68:2284:260.81:148.76:112.05:1.00:1.00:1.00:60:69.3:0:0:74:73:30:NM_147193.2(GLIS1) c.-146C>A,NM_147193.2(GLIS1) c.-146C>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 54065924 rs12723911 G A 244 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.2983,A/0.7017;PC=0.940;Gene=GLIS1/NM_147193.2/1;CC=c.-239C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:174:A,C:64:41:0:0:63,1:2147,7:244.26,0.07:103.61,0.00:140.65,0.07:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.7,68.0:0,0:0,0:82,6:64,145:30,0:NM_147193.2(GLIS1) c.-239C>T,NM_147193.2(GLIS1) c.-239C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 54065952 . C . . NT END=54199576;NT GT ./. 1 54065997 rs12029469 A T 138 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.2983,T/0.7017;Gene=GLIS1/NM_147193.2/1;CC=c.-266-46T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G,T:39:12:0:0:1,38:32,1206:2.10,138.20:1.05,24.73:1.05,113.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:67.0,93.8:0,0:0,0:143,115:7,30:0,29:NM_147193.2(GLIS1) c.-266-46T>A,NM_147193.2(GLIS1) c.-266-46T>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 54066012 rs12727337 A G 104 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2983,G/0.7017;Gene=GLIS1/NM_147193.2/1;CC=c.-266-61T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:8:0:0:28:909:104.23:19.43:84.79:1.00:1.00:1.00:60:106.3:0:0:97:41:26:NM_147193.2(GLIS1) c.-266-61T>C,NM_147193.2(GLIS1) c.-266-61T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 54066038 rs12036606 C T 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.2983,T/0.7017;Gene=GLIS1/NM_147193.2/1;CC=c.-266-87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:5:0:0:20:574:66.79:11.43:55.36:1.00:1.00:1.00:60:100.5:0:0:110:40:21:NM_147193.2(GLIS1) c.-266-87G>A,NM_147193.2(GLIS1) c.-266-87G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 54199734 rs112341265 CT C 37 idl,rn VT=DEL;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=12;PC=0.001;Gene=GLIS1/NM_147193.2/1;CC=c.-425delA;VC=5UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,I,C:100:77:10:20:1,74,9,16:13,2308,305,611:-0.13,0.00,19.03,37.16:0.01,0.00,9.74,29.00:-0.14,0.00,9.29,8.16:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:102.0,21.0,11.7,27.2:0,0,1,4:0,0,0,0:57,86,48,74:75,64,91,72:0,36,28,36:-,NM_147193.2(GLIS1) c.-438A[13]:-,NOT_FOUND:-,NOT_FOUND 1 54199878 . A . . NT END=54203478;NT GT ./. 1 54203738 . G . . NT END=54233642;NT GT ./. 1 54233707 . C . . NT END=54238001;NT GT ./. 1 54238163 . C . . NT END=54252830;NT GT ./. 1 54252932 . C . . NT END=54254805;NT GT ./. 1 54252939 . G GA 13 idl,rn VT=INS;SST=Single;DP=25;NP=1;PC=0.001;Gene=NDC1/NM_001168551.1/1;CC=c.1580-9dupT;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.1700-9dupT;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:G,GA,D:24:17:6:2:17,5,2:520,190,60:0.00,13.35,4.15:0.00,8.41,3.14:0.00,4.94,1.02:0.00,0.83,0.00:0.00,0.95,0.00:0.00,0.95,0.00:60,60,60:10.6,17.2,11.0:0,1,0:0,0,0:118,85,85:33,47,64:20,21,20:-,NM_018087.4(TMEM48) c.1700-9_1700-8insT:-,NOT_FOUND:-,NOT_FOUND 1 54254870 . C . . NT END=54258901;NT GT ./. 1 54258880 rs2273139 C T 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.9131,T/0.08686;Gene=NDC1/NM_001168551.1/1;CC=c.1515+22G>A;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.1635+22G>A;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:26:0:0:14,19:438,616:0.00,60.87:0.00,34.96:0.00,25.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,52.5:0,0:0,0:43,36:93,110:29,19:-,NM_018087.4(TMEM48) c.1635+22G>A:-,0.1:-,0.122789 1 54258953 . C . . NT END=54262361;NT GT ./. 1 54262253 rs57490546 TA T 12 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TA/0.5527,T/0.4473;DB;DBA=NA;PAF=TA/0.5527,T/0.4473;NP=12;Gene=NDC1/NM_001168551.1/1;CC=c.1464+108delT;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.1584+108delT;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:TA,T:8:9:0:5:4,4:134,154:0.00,11.58:0.00,11.58:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:12.0,46.5:0,1:0,0:73,71:77,79:20,40:-,NM_018087.4(TMEM48) c.1584+108delT:-,NOT_FOUND:-,NOT_FOUND 1 54262478 . C . . NT END=54262571;NT GT ./. 1 54262818 . C . . NT END=54266365;NT GT ./. 1 54263044 rs541960577 C CT 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=65;Gene=NDC1/NM_001168551.1/1;CC=c.1103-228dupA;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.1223-228dupA;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,CT:7:0:3:0:4,3:121,100:0.00,9.36:0.00,0.00:0.00,9.36:0.00,0.69:0.00,0.00:0.00,0.69:60,60:10.5,3.7:0,0:0,0:111,70:39,80:9,18:-,NM_018087.4(TMEM48) c.1223-228_1223-227insA:-,0.21:-,NOT_FOUND 1 54266522 . C . . NT END=54269600;NT GT ./. 1 54269683 . C . . NT END=54272097;NT GT ./. 1 54272191 . C . . NT END=54273328;NT GT ./. 1 54273465 . C . . NT END=54275367;NT GT ./. 1 54275152 rs12562843 G C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9127,C/0.08726;PC=0.010;Gene=NDC1/NM_001168551.1/1;CC=c.635+216C>G;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.755+216C>G;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,G:9:9:0:0:4,5:133,147:12.53,0.00:12.53,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:33.2,4.6:0,0:0,0:66,61:84,90:26,16:NM_018087.4(TMEM48) c.755+216C>G,-:0.1,-:NOT_FOUND,- 1 54275420 . C . . NT END=54284643;NT GT ./. 1 54284551 rs72662323 T C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9131,C/0.08686;PC=0.001;Gene=NDC1/NM_001168551.1/1;CC=c.583+93A>G;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.703+93A>G;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:C,T:9:9:0:0:4,5:138,156:13.02,0.00:13.02,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:34.5,1.8:0,0:0,0:74,45:76,105:24,34:NM_018087.4(TMEM48) c.703+93A>G,-:0.1,-:NOT_FOUND,- 1 54284753 . C . . NT END=54291470;NT GT ./. 1 54291610 . C . . NT END=54293671;NT GT ./. 1 54293847 . C . . NT END=54298162;NT GT ./. 1 54298265 . C . . NT END=54301172;NT GT ./. 1 54298297 rs72662336 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9189,C/0.08107;PC=0.640;Gene=NDC1/NM_001168551.1/1;CC=c.179-33A>G;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.179-33A>G;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:9:0:0:7,10:247,331:23.04,0.00:9.90,0.00:13.13,0.00:0.98,0.00:0.98,0.00:0.99,0.00:60,60:53.6,3.0:0,0:0,0:98,106:53,43:15,26:NM_018087.4(TMEM48) c.179-33A>G,-:0.09,-:0.111051,- 1 54301294 . C . . NT END=54303877;NT GT ./. 1 54301458 rs41305860 G T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9183,T/0.08167;Gene=NDC1/NM_001168551.1/1;CC=c.58-165C>A;VC=Intron;Gene=NDC1/NM_018087.4/0;CC=c.58-165C>A;VC=Intron;Gene=NDC1/NR_033142.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:G,T:12:0:0:0:9,3:301,98:0.00,8.30:0.00,0.00:0.00,8.30:0.00,0.59:0.00,0.00:0.00,0.59:60,60:5.8,32.7:0,0:0,0:79,93:71,57:58,1:-,NM_018087.4(TMEM48) c.58-165C>A:-,0.09:-,NOT_FOUND 1 54303935 . G . . NT END=54325736;NT GT ./. 1 54325827 . C . . NT END=54331872;NT GT ./. 1 54331715 rs1883452 C G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5164,A/.,G/0.4836;Gene=YIPF1/NM_018982.4/1;CC=c.831+158G>C;VC=Intron;Gene=YIPF1/NR_036639.1/0;VC=NonCoding;Gene=YIPF1/NR_036640.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:17:15:0:0:1,8,8:12,245,220:0.34,0.00,20.98:0.39,0.00,21.54:-0.05,0.00,-0.55:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.77:60,60,60:12.0,21.1,50.1:0,0,0:0,0,0:129,51,91:21,99,59:0,36,24:-,NM_018982.4(YIPF1) c.831+158G>C:-,0.46:-,NOT_FOUND 1 54331763 rs1883453 A G 45 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4685,G/0.5315;Gene=YIPF1/NM_018982.4/1;CC=c.831+110T>C;VC=Intron;Gene=YIPF1/NR_036639.1/0;VC=NonCoding;Gene=YIPF1/NR_036640.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:27:0:0:13,16:420,461:0.00,45.06:0.00,44.15:0.00,0.91:0.00,1.00:0.00,1.00:0.00,0.92:60,60:15.6,41.8:0,0:0,0:59,27:92,122:47,18:-,NM_018982.4(YIPF1) c.831+110T>C:-,0.52:-,NOT_FOUND 1 54332056 . C . . NT END=54332430;NT GT ./. 1 54332598 . C . . NT END=54337044;NT GT ./. 1 54337162 . C . . NT END=54343987;NT GT ./. 1 54344076 . C . . NT END=54344314;NT GT ./. 1 54344282 rs2272928 C A 73 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.3071,A/0.6929;Gene=YIPF1/NM_018982.4/1;CC=c.276+33G>T;VC=Intron;Gene=YIPF1/NR_036639.1/0;VC=NonCoding;Gene=YIPF1/NR_036640.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:41:27:0:0:23,18:738,542:72.58,0.00:28.41,0.00:44.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,4.0:0,0:0,0:59,35:92,115:26,11:NM_018982.4(YIPF1) c.276+33G>T,-:0.66,-:0.61833,- 1 54344396 . C . . NT END=54348785;NT GT ./. 1 54348950 . C . . NT END=54354579;NT GT ./. 1 54354611 . T . . NT END=54359883;NT GT ./. 1 54360221 . G . . NT END=54370338;NT GT ./. 1 54360467 rs11588118 C G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5905,G/0.4095;PC=0.011;Gene=DIO1/NM_000792.5/1;CC=c.337+247C>G;VC=Intron;Gene=DIO1/NM_001039715.1/0;CC=c.337+247C>G;VC=Intron;Gene=DIO1/NM_001039716.1/0;CC=c.337+247C>G;VC=Intron;Gene=DIO1/NM_213593.3/0;CC=c.145+439C>G;VC=Intron;DM=DIO1/T4_deiodinase;DM=DIO1/T4_deiodinase;DM=DIO1/T4_deiodinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:5:0:0:0:3,2:104,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:60,60:3.3,34.5:0,0:0,0:84,65:66,86:44,19:-,NM_000792.5(DIO1) c.337+247C>G:-,0.4:-,NOT_FOUND 1 54370483 . G . . NT END=54371767;NT GT ./. 1 54371968 . G . . NT END=54375603;NT GT ./. 1 54375673 . T . . NT END=54387323;NT GT ./. 1 54387441 . C . . NT END=54389576;NT GT ./. 1 54389621 . C . . NT END=54394044;NT GT ./. 1 54394114 . C . . NT END=54395711;NT GT ./. 1 54395673 rs56847995 CA C 8 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=CA/0.5385,C/0.4615;DB;DBA=NA;PAF=CA/0.5385,C/0.4615;NP=36;PC=0.014;Gene=HSPB11/NM_016126.2/1;CC=c.205+38delT;VC=Intron;Gene=HSPB11/NR_133632/0;VC=NonCoding;Gene=HSPB11/NR_133633/0;VC=NonCoding;Gene=HSPB11/NM_001316935/0;CC=c.205+38delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:CA,I,C:22:23:3:5:16,3,3:467,83,166:0.00,6.11,7.90:0.00,6.17,7.96:0.00,-0.06,-0.06:0.00,0.00,0.47:0.00,0.00,0.89:0.00,0.00,0.42:60,60,60:16.6,27.0,30.0:0,0,2:0,0,0:68,61,22:67,89,128:51,33,12:-,NM_016126.2(HSPB11) c.205+38delT:-,NOT_FOUND:-,NOT_FOUND 1 54395819 . C . . NT END=54405657;NT GT ./. 1 54405756 . C . . NT END=54417672;NT GT ./. 1 54418146 . G . . NT END=54423821;NT GT ./. 1 54423954 . G . . NT END=54426028;NT GT ./. 1 54426148 . G . . NT END=54427706;NT GT ./. 1 54427796 . G . . NT END=54427968;NT GT ./. 1 54428083 . G . . NT END=54431968;NT GT ./. 1 54432054 . G . . NT END=54433337;NT GT ./. 1 54433613 . T . . NT END=54474654;NT GT ./. 1 54474472 rs6672989 T C 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.646,C/0.354;PC=0.001;Gene=LDLRAD1/NM_001010978.3/1;CC=c.*183A>G;VC=3UTR;Gene=LDLRAD1/NM_001276392.1/0;CC=c.*183A>G;VC=3UTR;Gene=LDLRAD1/NM_001276393.1/0;CC=c.*183A>G;VC=3UTR;Gene=LDLRAD1/NM_001276394.1/0;CC=c.*183A>G;VC=3UTR;Gene=LDLRAD1/NM_001276395.1/0;CC=c.*338A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:636:72.66:72.66:0.00:1.00:1.00:0.00:60:42.2:0:0:51:100:26:chr1 g.54474471T>C (intergenic),chr1 g.54474471T>C (intergenic):0.4,0.4:NOT_FOUND,NOT_FOUND 1 54474804 . C . . NT END=54475954;NT GT ./. 1 54476084 . C . . NT END=54477815;NT GT ./. 1 54476323 rs12036530 T C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4583,C/0.5417;Gene=LDLRAD1/NM_001010978.3/1;CC=c.341-240A>G;VC=Intron;Gene=LDLRAD1/NM_001276392.1/0;CC=c.224-240A>G;VC=Intron;Gene=LDLRAD1/NM_001276393.1/0;CC=c.212-240A>G;VC=Intron;Gene=LDLRAD1/NM_001276394.1/0;CC=c.74-240A>G;VC=Intron;Gene=LDLRAD1/NM_001276395.1/0;CC=c.181-240A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:36.0:0:0:98:53:33:NM_001010978.2(LDLRAD1) c.341-240A>G,NM_001010978.2(LDLRAD1) c.341-240A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 54477726 rs55766128 T G 231 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.4581,G/0.5419;Gene=LDLRAD1/NM_001010978.3/1;CC=c.340+90A>C;VC=Intron;Gene=LDLRAD1/NM_001276392.1/0;CC=c.223+90A>C;VC=Intron;Gene=LDLRAD1/NM_001276393.1/0;CC=c.211+90A>C;VC=Intron;Gene=LDLRAD1/NM_001276394.1/0;CC=c.74-1643A>C;VC=Intron;Gene=LDLRAD1/NM_001276395.1/0;CC=c.180+90A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:67:62:0:0:67:1994:231.11:192.69:38.42:1.00:1.00:1.00:60:36.3:0:0:28:123:16:NM_001010978.2(LDLRAD1) c.340+90A>C,NM_001010978.2(LDLRAD1) c.340+90A>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 54477954 . C . . NT END=54479908;NT GT ./. 1 54480038 . C . . NT END=54483048;NT GT ./. 1 54482915 rs11804837 G A 60 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5052,A/0.4948;Gene=LDLRAD1/NM_001010978.3/1;CC=c.73+134C>T;VC=Intron;Gene=LDLRAD1/NM_001276392.1/0;CC=c.85+850C>T;VC=Intron;Gene=LDLRAD1/NM_001276393.1/0;CC=c.73+134C>T;VC=Intron;Gene=LDLRAD1/NM_001276394.1/0;CC=c.73+134C>T;VC=Intron;Gene=LDLRAD1/NM_001276395.1/0;CC=c.73+134C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:16:0:0:16:520:59.63:59.63:0.00:1.00:1.00:0.00:60:33.6:0:0:27:123:17:NM_001010978.2(LDLRAD1) c.73+134C>T,NM_001010978.2(LDLRAD1) c.73+134C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 54483101 . C . . NT END=54483764;NT GT ./. 1 54483694 rs34764952 C T 125 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.6556,T/0.3444;PC=0.929;Gene=LDLRAD1/NM_001010978.3/1;CC=c.21+71G>A;VC=Intron;Gene=LDLRAD1/NM_001276392.1/0;CC=c.85+71G>A;VC=Intron;Gene=LDLRAD1/NM_001276393.1/0;CC=c.21+71G>A;VC=Intron;Gene=LDLRAD1/NM_001276394.1/0;CC=c.21+71G>A;VC=Intron;Gene=LDLRAD1/NM_001276395.1/0;CC=c.21+71G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:C,T:36:36:0:0:1,35:26,1104:0.00,125.11:0.00,117.53:0.00,7.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,46.8:0,0:0,0:117,42:5,108:0,26:NM_001010978.2(LDLRAD1) c.21+71G>A,NM_001010978.2(LDLRAD1) c.21+71G>A:0.39,0.39:0.319536,0.319536 1 54483850 . T . . NT END=54497822;NT GT ./. 1 54488948 rs6703501 T C,CACAC 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5056,C/0.4944 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:65:C,CACAC:4:2:2:0:2,2:71,67:7.45,7.05:1.89,1.79:5.56,5.26:0.51,0.00:0.79,0.00:0.51,0.00:60,70:119.0,57.5:0,0:0,0:96,91:24,44:34,38:NM_001010978.2(LDLRAD1) c.-18-u5145A>G,NM_001010978.2(LDLRAD1) c.-18-u5145delAinsGTGTG:0.52,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 54497979 . C . . NT END=54502282;NT GT ./. 1 54502392 . C . . NT END=54506428;NT GT ./. 1 54506514 . C . . NT END=54507396;NT GT ./. 1 54507479 . C . . NT END=54509045;NT GT ./. 1 54509199 . C . . NT END=54511364;NT GT ./. 1 54511460 . C . . NT END=54512939;NT GT ./. 1 54513046 . C . . NT END=54518672;NT GT ./. 1 54518862 . C . . NT END=54520095;NT GT ./. 1 54520198 . G . . NT END=54534428;NT GT ./. 1 54534571 . G . . NT END=54554269;NT GT ./. 1 54554464 . G . . NT END=54562464;NT GT ./. 1 54562654 . T . . NT END=54605192;NT GT ./. 1 54605319 rs66537746 G GC 411 PASS VT=INS;SST=Single;DP=127;DB;DBA=NA;PAF=G/0.5202,GC/0.4798,GCC/.,GCG/.,GG/.,GGC/.,GGG/.,GGGG/.,GGT/.,GGTT/.,GT/.;DB;DBA=NA;PAF=NA;NP=2849;PC=0.002;Gene=CDCP2/NM_201546.3/1;CC=c.1223_1224insG;ProtCh=p.M409Hfs*45;VC=FrameShiftIns;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:C,G,GC:127:101:119:0:1,7,119:31,191,3663:1.47,0.00,411.37:1.48,0.00,272.57:-0.01,0.00,138.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:31.0,41.3,12.9:0,2,0:0,0,0:0,94,69:151,5,77:0,54,35:NM_201546.2(CDCP2) c.1223_1224insG (p.Met409Hisfs*45),NM_201546.2(CDCP2) c.1223_1224insG (p.Met409Hisfs*45):0.63,0.63:NOT_FOUND,NOT_FOUND 1 54605780 . C . . NT END=54606770;NT GT ./. 1 54606804 rs3766465 C T 462 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.1759,T/0.8241;PC=1.000;Gene=CDCP2/NM_201546.3/1;CC=c.730G>A;ProtCh=p.G244R;VC=Missense;DM=CDCP2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:124:111:0:0:1,123:12,4043:0.13,462.35:0.00,341.17:0.13,121.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,44.6:0,0:0,0:28,45:123,96:0,30:NM_201546.2(CDCP2) c.730G>A (p.Gly244Arg),NM_201546.2(CDCP2) c.730G>A (p.Gly244Arg):0.83,0.83:0.824846,0.824846 1 54607051 rs671103 A G 545 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=A/0.003395,G/0.9966;NP=3465;PC=1.000;Gene=CDCP2/NM_201546.3/1;CC=c.483T>C;ProtCh=p.Y161=;VC=Silent;DM=CDCP2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:148:82:0:0:148:4752:545.48:206.03:339.45:1.00:1.00:1.00:60:48.4:0:0:74:74:37:NM_201546.2(CDCP2) c.483T>C (p.(=)),NM_201546.2(CDCP2) c.483T>C (p.(=)):1,1:0.997001,0.997001 1 54607107 . C . . NT END=54610138;NT GT ./. 1 54607157 rs671539 G A 275 nt VT=SNV;PN=A;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.1236,A/0.8764,T/.;Gene=CDCP2/NM_201546.3/1;CC=c.428-51C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:79:23:0:0:78,1:2389,10:275.46,0.13:51.44,0.00:224.01,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.2,178.0:0,0:0,0:113,104:36,47:22,0:NM_201546.2(CDCP2) c.428-51C>T,NM_201546.2(CDCP2) c.428-51C>T:0.87,0.87:0.847793,0.847793 1 54607283 rs672067 T C 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.003395,C/0.9966;NP=482;Gene=CDCP2/NM_201546.3/1;CC=c.428-177A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:609:69.92:0.00:69.92:1.00:0.00:1.00:60:46.4:0:0:119:32:21:NM_201546.2(CDCP2) c.428-177A>G,NM_201546.2(CDCP2) c.428-177A>G:1,1:NOT_FOUND,NOT_FOUND 1 54610487 . C . . NT END=54618516;NT GT ./. 1 54618435 rs7528345 A T 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.3538,T/0.6462;Gene=CDCP2/NM_201546.3/1;CC=c.79+82T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:41:38:0:0:22,19:725,655:0.00,62.27:0.00,53.70:0.00,8.57:0.00,1.00:0.00,1.00:0.00,0.97:60,60:7.2,40.9:0,0:0,0:22,77:128,71:16,38:-,NM_201546.2(CDCP2) c.79+82T>A:-,0.64:-,NOT_FOUND 1 54618596 . C . . NT END=54640291;NT GT ./. 1 54640496 . C . . NT END=54644821;NT GT ./. 1 54645026 . C . . NT END=54649833;NT GT ./. 1 54645262 rs7520966 T C 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3798,C/0.6202;Gene=CYB5RL/NM_001031672.2/1;CC=c.541-237A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:7:0:0:0:3,4:105,90:9.88,0.00:0.00,0.00:9.88,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:95.3,40.0:0,0:0,0:42,119:109,19:7,23:NM_001031672.2(CYB5RL) c.541-237A>G,-:0.67,-:NOT_FOUND,- 1 54645313 rs7528869 G A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3798,A/0.6202;PC=0.003;Gene=CYB5RL/NM_001031672.2/1;CC=c.541-288C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,C,G:7:0:0:0:4,1,2:111,10,51:11.27,0.54,0.00:0.00,0.00,0.00:11.27,0.54,0.00:0.90,0.00,0.00:0.00,0.00,0.00:0.90,0.00,0.00:60,60,60:53.5,148.0,80.0:0,0,0:0,0,0:50,100,117:101,50,21:23,0,30:NM_001031672.2(CYB5RL) c.541-288C>T,-:0.67,-:NOT_FOUND,- 1 54649939 . C . . NT END=54653324;NT GT ./. 1 54653413 . C . . NT END=54656420;NT GT ./. 1 54656570 . C . . NT END=54661091;NT GT ./. 1 54656651 rs4927066 C G 113 nt VT=SNV;PN=C;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.4928,G/0.5072;Gene=CYB5RL/NM_001031672.2/1;CC=c.199-82G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:79:31:0:0:42,37:1391,1190:0.00,112.84:0.00,33.87:0.00,78.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,41.9:0,0:0,0:104,104:42,44:29,25:-,NM_001031672.2(CYB5RL) c.199-82G>C:-,0.52:-,NOT_FOUND 1 54661290 . C . . NT END=54665916;NT GT ./. 1 54666264 . T . . NT END=54670690;NT GT ./. 1 54670658 rs71579999 CCTT C 96 nt VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=CCTT/0.9141,C/0.08586;DB;DBA=NA;PAF=CCTT/0.9141,C/0.08586;NP=1156;Gene=MRPL37/NM_016491.3/1;CC=c.347-29_347-27delCTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCTT,C:59:54:0:32:27,32:849,986:0.00,96.20:0.00,71.76:0.00,24.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:10.6,11.3:0,0:0,0:40,47:111,99:31,27:-,NM_016491.3(MRPL37) c.347-32_347-30delCTT:-,0.12:-,0.18107 1 54670875 . G . . NT END=54670967;NT GT ./. 1 54671084 . G . . NT END=54675618;NT GT ./. 1 54675806 . T . . NT END=54678173;NT GT ./. 1 54678333 . T . . NT END=54681813;NT GT ./. 1 54681920 rs13571 G C 133 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.4167,C/0.5833,T/.;PC=0.032;Gene=MRPL37/NM_016491.3/1;CC=c.1097G>C;ProtCh=p.C366S;VC=Missense;DM=MRPL37/PDCD9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:85:54:0:0:41,44:1395,1483:133.50,0.00:72.56,0.00:60.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,7.5:0,0:0,0:87,81:61,66:32,28:NM_016491.3(MRPL37) c.1097G>C (p.Cys366Ser),-:0.63,-:0.739966,- 1 54682019 . T . . NT END=54683844;NT GT ./. 1 54683856 rs15921 C G 83 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.5944,G/0.4056;PC=0.989;Gene=MRPL37/NM_016491.3/1;CC=c.1206C>G;ProtCh=p.G402=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:57:52:0:0:29,28:961,871:0.00,83.23:0.00,54.77:0.00,28.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,68.0:0,0:0,0:68,50:69,94:33,26:-,NM_016491.3(MRPL37) c.1206C>G (p.(=)):-,0.36:-,0.247347 1 54683925 rs6621 G A 123 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.7702,A/0.2298,C/.;PC=0.003;Gene=MRPL37/NM_016491.3/1;CC=c.*3G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:59:0:0:38,37:1279,1188:123.44,0.00:63.11,0.00:60.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,3.4:0,0:0,0:57,44:89,92:43,25:NM_016491.3(MRPL37) c.*3G>A,-:0.22,-:0.132554,- 1 54684058 . C . . NT END=54690797;NT GT ./. 1 54690596 rs67459981 TAC T 21 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TAC/0.4836,T/0.5164;DB;DBA=NA;PAF=TAC/0.4836,T/0.5164;NP=32;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAC,T:14:14:0:7:7,7:188,218:0.00,20.94:0.00,20.94:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:30.9,20.3:0,0:0,0:34,34:115,116:3,9:-,chr1 g.54690597_54690598delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 54690614 . G GA 10 rn VT=INS;SST=Single;DP=17;NP=3;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:G,GA,D:17:17:4:1:12,4,1:374,123,32:0.00,10.30,2.13:0.00,10.30,2.13:0.00,0.00,0.00:0.00,0.74,0.00:0.00,0.74,0.00:0.00,0.00,0.00:60,60,60:21.5,31.0,0.0:0,0,0:0,0,0:43,50,87:106,99,64:14,23,0:-,chr1 g.54690614_54690615insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 54690639 rs397741539 G GCCC 25 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4836,GCCC/0.5164,GCCCC/.;DB;DBA=NA;PAF=G/0.4836,GCCC/0.5164;DB;DBA=NA;PAF=NA;NP=32;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCCC:21:21:9:0:12,9:374,272:0.00,25.27:0.00,25.27:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.0,19.0:0,0:0,0:41,71:109,78:34,39:-,chr1 g.54690639_54690640insCCC (intergenic):-,0.5:-,NOT_FOUND 1 54690954 rs3088379 T C 175 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=T/0.5381,C/0.4619 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:126:79:0:0:56,70:1858,2154:174.96,0.00:83.48,0.00:91.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,8.0:0,0:0,0:80,92:63,57:39,31:chr1 g.54690953T>C (intergenic),-:0.43,-:NOT_FOUND,- 1 54691056 . T . . NT END=54692803;NT GT ./. 1 54692834 . C . . NT END=54693927;NT GT ./. 1 54692859 rs141516563 G GGC 45 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.8768,GGC/0.1232;NP=1;NP=1;NP=706;PC=0.750;Gene=SSBP3/NM_001009955.3/0;CC=c.1057-27_1057-26insGC;VC=Intron;Gene=SSBP3/NM_018070.4/0;CC=c.1078-27_1078-26insGC;VC=Intron;Gene=SSBP3/NM_145716.3/1;CC=c.1138-27_1138-26insGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGC:31:20:16:0:15,16:400,468:0.00,45.14:0.00,20.58:0.00,24.56:0.00,1.00:0.00,1.00:0.00,1.00:60,70:43.3,22.7:2,0:0,0:98,96:44,42:25,32:-,NM_145716.2(SSBP3) c.1138-27_1138-26insGC:-,NOT_FOUND:-,NOT_FOUND 1 54694030 . C . . NT END=54694121;NT GT ./. 1 54694151 . C . . NT END=54694420;NT GT ./. 1 54694254 rs11206309 C G 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8566,G/0.1434;Gene=SSBP3/NM_001009955.3/0;CC=c.926-104G>C;VC=Intron;Gene=SSBP3/NM_018070.4/0;CC=c.947-104G>C;VC=Intron;Gene=SSBP3/NM_145716.3/1;CC=c.1007-104G>C;VC=Intron;DM=SSBP3/SSDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:12:0:0:20,13:625,438:0.00,40.40:0.00,17.41:0.00,22.98:0.00,1.00:0.00,0.99:0.00,1.00:60,60:9.5,53.3:0,0:0,0:95,58:56,92:43,47:-,NM_145716.2(SSBP3) c.1007-104G>C:-,0.11:-,NOT_FOUND 1 54694500 . C . . NT END=54704801;NT GT ./. 1 54694750 rs61776465 A G 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9075,G/0.09245;Gene=SSBP3/NM_001009955.3/0;CC=c.847-251T>C;VC=Intron;Gene=SSBP3/NM_018070.4/0;CC=c.868-251T>C;VC=Intron;Gene=SSBP3/NM_145716.3/1;CC=c.928-251T>C;VC=Intron;DM=SSBP3/SSDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G:5:0:0:0:2,3:57,98:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.78:0.00,0.00:0.00,0.78:60,60:5.5,44.3:0,0:0,0:111,103:39,46:4,37:-,NM_145716.2(SSBP3) c.928-251T>C:-,0.07:-,NOT_FOUND 1 54704873 . C . . NT END=54706577;NT GT ./. 1 54706633 . C . . NT END=54707146;NT GT ./. 1 54706733 rs2297027 A G 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.3405,G/0.6595;Gene=SSBP3/NM_001009955.3/0;CC=c.721-101T>C;VC=Intron;Gene=SSBP3/NM_018070.4/0;CC=c.742-101T>C;VC=Intron;Gene=SSBP3/NM_145716.3/1;CC=c.802-101T>C;VC=Intron;DM=SSBP3/SSDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:3:0:0:13,16:416,504:0.00,49.38:0.00,4.83:0.00,44.55:0.00,1.00:0.00,0.92:0.00,1.00:60,60:5.5,32.2:0,0:0,0:112,111:39,40:16,20:-,NM_145716.2(SSBP3) c.802-101T>C:-,0.59:-,NOT_FOUND 1 54707183 . C . . NT END=54707836;NT GT ./. 1 54707886 . C . . NT END=54708907;NT GT ./. 1 54708997 . C . . NT END=54717288;NT GT ./. 1 54717366 . C . . NT END=54717466;NT GT ./. 1 54717534 . C . . NT END=54722799;NT GT ./. 1 54717726 rs43902 A C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4153,C/0.5847,T/.;Gene=SSBP3/NM_001009955.3/0;CC=c.427-193T>G;VC=Intron;Gene=SSBP3/NM_018070.4/0;CC=c.448-193T>G;VC=Intron;Gene=SSBP3/NM_145716.3/1;CC=c.508-193T>G;VC=Intron;DM=SSBP3/SSDP;DM=SSBP3/SSDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,C:12:0:0:0:7,5:234,165:0.00,15.35:0.00,0.00:0.00,15.35:0.00,0.92:0.00,0.00:0.00,0.92:60,60:3.7,33.0:0,0:0,0:114,55:37,96:25,51:-,NM_145716.2(SSBP3) c.508-193T>G:-,0.52:-,NOT_FOUND 1 54722860 . C . . NT END=54723741;NT GT ./. 1 54723823 . C . . NT END=54747110;NT GT ./. 1 54747201 . C . . NT END=54867533;NT GT ./. 1 54867619 . C . . NT END=54870248;NT GT ./. 1 54870311 . C . . NT END=54870530;NT GT ./. 1 54870481 rs34526454 T TGG 10 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.905;Gene=SSBP3/NM_001009955.3/0;CC=c.129+48_129+49dupCC;VC=Intron;Gene=SSBP3/NM_018070.4/0;CC=c.129+48_129+49dupCC;VC=Intron;Gene=SSBP3/NM_145716.3/1;CC=c.129+48_129+49dupCC;VC=Intron;DM=SSBP3/SSDP;DM=SSBP3/SSDP;DM=SSBP3/SSDP;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TGG,D:20:22:7:2:14,4,2:395,222,65:0.00,9.92,4.79:0.00,10.00,4.82:0.00,-0.08,-0.04:0.00,0.69,0.00:0.00,0.96,0.00:0.00,0.45,0.00:60,60,60:38.4,173.5,9.0:0,3,0:0,0,0:118,33,30:13,117,119:18,5,18:-,NM_145716.2(SSBP3) c.129+49_129+50insCC:-,NOT_FOUND:-,NOT_FOUND 1 54870604 . C . . NT END=54871625;NT GT ./. 1 54871469 rs183895460 G A,C 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6815,A/0.3185;DM=SSBP3/SSDP;DM=SSBP3/SSDP;DM=SSBP3/SSDP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:10:A,C:10:9:0:0:9,1:301,30:33.98,2.48:30.45,2.48:3.53,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:50.9,87.0:0,0:0,0:42,138:74,13:8,0:NM_145716.2(SSBP3) c.56+157C>T,NM_145716.2(SSBP3) c.56+157C>G:0.31,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 54871566 rs547030913 ACCGC A 92 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=ACCGC/0.523,A/0.477;NP=4;Gene=SSBP3/NM_001009955.3/0;CC=c.56+56_56+59delGCGG;VC=Intron;Gene=SSBP3/NM_018070.4/0;CC=c.56+56_56+59delGCGG;VC=Intron;Gene=SSBP3/NM_145716.3/1;CC=c.56+56_56+59delGCGG;VC=Intron;DM=SSBP3/SSDP;DM=SSBP3/SSDP;DM=SSBP3/SSDP;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:ACCGC,A:28:10:0:26:2,26:43,822:0.00,91.57:0.00,23.22:0.00,68.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,13.9:0,0:0,0:116,29:12,113:22,14:NM_145716.2(SSBP3) c.56+56_56+59delGCGG,NM_145716.2(SSBP3) c.56+56_56+59delGCGG:NOT_FOUND,NOT_FOUND:0.319511,0.319511 1 54871682 . G . . NT END=55013982;NT GT ./. 1 54871709 . T TCGCCGC 98 nt VT=INS;SST=Single;DP=49;NP=1;NP=40;PC=0.004;Gene=SSBP3/NM_001009955.3/0;CC=c.-29_-28insGCGGCG;VC=5UTR;Gene=SSBP3/NM_018070.4/0;CC=c.-29_-28insGCGGCG;VC=5UTR;Gene=SSBP3/NM_145716.3/1;CC=c.-29_-28insGCGGCG;VC=5UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TCGCCGC:49:31:33:0:16,33:497,953:0.00,97.56:0.00,49.86:0.00,47.69:0.00,1.00:0.00,1.00:0.00,1.00:60,70:13.5,9.7:2,0:0,0:116,82:25,66:13,18:-,NM_145716.2(SSBP3) c.-52GCG[10]:-,NOT_FOUND:-,NOT_FOUND 1 54872035 rs376869593 TGCC T 24 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=212;PC=0.011;Gene=SSBP3/NM_001009955.3/0;CC=c.-357_-355delGGC;VC=5UTR;Gene=SSBP3/NM_018070.4/0;CC=c.-357_-355delGGC;VC=5UTR;Gene=SSBP3/NM_145716.3/1;CC=c.-357_-355delGGC;VC=5UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:TGCC,T:10:7:0:7:3,7:92,232:0.00,23.89:0.00,9.87:0.00,14.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.7,1.7:0,0:0,0:124,73:24,72:13,19:-,NM_145716.2(SSBP3) c.-298-u59_-298-u57delGGC:-,NOT_FOUND:-,NOT_FOUND 1 55003492 rs4926649 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6514,A/0.3486;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:5:0:0:0:3,2:104,58:10.37,0.00:0.00,0.00:10.37,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:41.0,0.0:0,0:0,0:46,16:105,134:28,14:chr1 g.55003491G>A (intergenic),-:0.34,-:NOT_FOUND,- 1 55014016 . G . . NT END=55038658;NT GT ./. 1 55014099 rs299874 C T 220 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.2488,T/0.7512;PC=0.001;Gene=ACOT11/NM_147161.3/0;CC=c.33+84C>T;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.33+84C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:T:60:19:0:0:60:1911:219.64:45.40:174.23:1.00:1.00:1.00:60:51.1:0:0:106:38:33:NM_015547.3(ACOT11) c.33+84C>T,NM_015547.3(ACOT11) c.33+84C>T:0.75,0.75:0.679807,0.679807 1 55014160 rs299872 C T 103 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.371,T/0.629;Gene=ACOT11/NM_147161.3/0;CC=c.33+145C>T;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.33+145C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:1:0:0:27:900:102.88:2.77:100.10:1.00:1.00:1.00:60:76.7:0:0:102:48:30:NM_015547.3(ACOT11) c.33+145C>T,NM_015547.3(ACOT11) c.33+145C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 55019926 rs141527793 GATTTT G 17 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GATTTT/0.7903,G/0.2097;NP=182;PC=0.529;Gene=ACOT11/NM_147161.3/0;CC=c.33+5922_33+5926delATTTT;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.33+5922_33+5926delATTTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:6:5:147:17.08:17.08:0.00:1.00:1.00:0.00:60:21.8:0:0:46:104:1:NM_015547.3(ACOT11) c.33+5912_33+5916delATTTT,NM_015547.3(ACOT11) c.33+5912_33+5916delATTTT:0.22,0.22:NOT_FOUND,NOT_FOUND 1 55028752 rs447553 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3734,C/0.6266;Gene=ACOT11/NM_147161.3/0;CC=c.33+14737T>C;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.33+14737T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:184:21.26:14.31:6.95:1.00:1.00:1.00:60:74.2:0:0:69:81:49:NM_015547.3(ACOT11) c.33+14737T>C,NM_015547.3(ACOT11) c.33+14737T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 55028787 rs35166214 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8417,T/0.1583;Gene=ACOT11/NM_147161.3/0;CC=c.33+14772C>T;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.33+14772C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:5:0:0:7:222:25.52:11.86:13.67:1.00:1.00:1.00:60:72.1:0:0:50:92:23:NM_015547.3(ACOT11) c.33+14772C>T,NM_015547.3(ACOT11) c.33+14772C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 1 55038937 . g . . NT END=55048107;NT GT ./. 1 55048210 . G . . NT END=55050327;NT GT ./. 1 55050536 . G . . NT END=55051507;NT GT ./. 1 55051578 . G . . NT END=55058218;NT GT ./. 1 55058280 . G . . NT END=55059613;NT GT ./. 1 55059713 . G . . NT END=55060228;NT GT ./. 1 55060365 . G . . NT END=55062931;NT GT ./. 1 55063089 . G . . NT END=55064968;NT GT ./. 1 55065089 . G . . NT END=55066941;NT GT ./. 1 55066759 rs1655534 T C 80 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6563,C/0.3437;Gene=ACOT11/NM_147161.3/0;CC=c.885-183T>C;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.885-183T>C;VC=Intron;DM=ACOT11/4HBT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:21:0:0:21:705:80.44:80.44:0.00:1.00:1.00:0.00:60:47.0:0:0:34:117:19:NM_015547.3(ACOT11) c.885-183T>C,NM_015547.3(ACOT11) c.885-183T>C:0.36,0.36:NOT_FOUND,NOT_FOUND 1 55066789 rs10533779 CAT C 95 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=CAT/0.6711,C/0.3289;NP=155;PC=0.007;Gene=ACOT11/NM_147161.3/0;CC=c.885-152_885-151delAT;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.885-152_885-151delAT;VC=Intron;DM=ACOT11/4HBT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:CAT,C:28:28:0:27:1,27:32,840:0.00,95.00:0.00,95.00:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:61.0,42.3:0,0:0,0:126,50:1,101:0,23:NM_015547.3(ACOT11) c.885-152_885-151delAT,NM_015547.3(ACOT11) c.885-152_885-151delAT:0.32,0.32:NOT_FOUND,NOT_FOUND 1 55066813 rs71045198 C CAT 110 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.9944,A/.,G/.,T/0.005591;DB;DBA=NA;PAF=NA;NP=1;NP=583;NP=7;PC=0.126;Gene=ACOT11/NM_147161.3/0;CC=c.885-129_885-128insAT;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.885-129_885-128insAT;VC=Intron;DM=ACOT11/4HBT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T,CAT:38:37:34:0:2,3,33:64,86,1012:0.00,6.63,110.19:0.00,6.63,102.33:0.00,0.00,7.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:74.5,34.3,31.1:0,0,1:0,0,0:139,1,46:11,150,103:0,0,29:NM_015547.3(ACOT11) c.885-129_885-128insAT,NM_015547.3(ACOT11) c.885-129_885-128insAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 55067087 . G . . NT END=55068341;NT GT ./. 1 55068398 . G . . NT END=55069543;NT GT ./. 1 55069611 . G . . NT END=55070018;NT GT ./. 1 55069790 rs892446 C A 52 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7304,A/0.2696;Gene=ACOT11/NM_147161.3/0;CC=c.1152+180C>A;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.1152+180C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A,C:16:2:0:0:15,1:459,9:51.66,0.00:7.00,0.00:44.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,0.0:0,0:0,0:74,15:77,135:33,0:NM_015547.3(ACOT11) c.1152+180C>A,NM_015547.3(ACOT11) c.1152+180C>A:0.31,0.31:NOT_FOUND,NOT_FOUND 1 55069986 rs746503 T C 116 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.4892,C/0.5108;Gene=ACOT11/NM_147161.3/0;CC=c.1153-33T>C;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.1153-33T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:26:0:0:30:1021:116.41:83.37:33.04:1.00:1.00:1.00:60:47.9:0:0:57:86:28:NM_015547.3(ACOT11) c.1153-33T>C,NM_015547.3(ACOT11) c.1153-33T>C:0.53,0.53:0.595033,0.595033 1 55070103 . G . . NT END=55070748;NT GT ./. 1 55070883 . G . . NT END=55072806;NT GT ./. 1 55071024 rs1655532 T G 119 nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.003994,G/0.996;NP=512;Gene=ACOT11/NM_147161.3/0;CC=c.1370+142T>G;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.1370+142T>G;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:G,T:35:4:0:0:34,1:1043,10:118.77,0.00:7.78,0.00:111.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:81.3,30.0:0,0:0,0:95,52:54,86:32,0:NM_015547.3(ACOT11) c.1370+142T>G,NM_015547.3(ACOT11) c.1370+142T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 55072726 rs1616691 T C 378 nt VT=SNV;PN=G;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.5545,C/0.4455;Gene=ACOT11/NM_147161.3/0;CC=c.1371-81T>C;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.1371-81T>C;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:103:86:0:0:1,102:10,3304:0.10,378.23:0.10,264.51:0.00,113.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.0,39.8:0,0:0,0:67,45:63,101:0,25:NM_015547.3(ACOT11) c.1371-81T>C,NM_015547.3(ACOT11) c.1371-81T>C:0.45,0.45:NOT_FOUND,NOT_FOUND 1 55072939 . G . . NT END=55073614;NT GT ./. 1 55073742 . G . . NT END=55074629;NT GT ./. 1 55074419 rs1655531 T C 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.004193,C/0.9958;Gene=ACOT11/NM_147161.3/0;CC=c.1630-211T>C;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.1629+678T>C;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:316:36.32:36.32:0.00:1.00:1.00:0.00:60:72.2:0:0:40:105:17:NM_015547.3(ACOT11) c.1629+678T>C,NM_015547.3(ACOT11) c.1629+678T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 55074463 rs1655530 T C 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4934,C/0.5066;Gene=ACOT11/NM_147161.3/0;CC=c.1630-167T>C;VC=Intron;Gene=ACOT11/NM_015547.3/1;CC=c.1629+722T>C;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:384:44.52:44.52:0.00:1.00:1.00:0.00:60:60.2:0:0:63:88:26:NM_015547.3(ACOT11) c.1629+722T>C,NM_015547.3(ACOT11) c.1629+722T>C:0.52,0.52:NOT_FOUND,NOT_FOUND 1 55074840 rs1617287 T A 597 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=163;DB;DBA=NA;PAF=T/0.7232,A/0.2768;PC=0.014;Gene=ACOT11/NM_147161.3/0;CC=c.*55T>A;VC=3UTR;Gene=ACOT11/NM_015547.3/1;CC=c.1629+1099T>A;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:163:124:0:0:162,1:5205,12:597.15,0.10:381.64,0.10:215.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,114.0:0,0:0,0:83,24:65,126:38,0:NM_015547.3(ACOT11) c.1629+1099T>A,NM_015547.3(ACOT11) c.1629+1099T>A:0.32,0.32:NOT_FOUND,NOT_FOUND 1 55075452 rs1368883 G A 1361 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=376;DB;DBA=NA;PAF=G/0.6977,A/0.3023,C/.;PC=0.001;Gene=ACOT11/NM_147161.3/0;CC=c.*667G>A;VC=3UTR;Gene=ACOT11/NM_015547.3/1;CC=c.1629+1711G>A;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.1247C>T;ProtCh=p.A416V;VC=Missense;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:376:227:0:0:374,2:11873,45:1360.54,0.00:637.13,0.00:723.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,94.0:0,0:0,0:81,103:67,42:35,42:NM_176782.2(FAM151A) c.1247C>T (p.Ala416Val),NM_176782.2(FAM151A) c.1247C>T (p.Ala416Val):0.33,0.33:0.428725,0.428725 1 55075615 . C . . NT END=55076084;NT GT ./. 1 55076229 . C . . NT END=55077278;NT GT ./. 1 55076282 . a . . NT END=55076468;NT GT ./. 1 55076430 rs733035 A G 394 nt VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.5198,G/0.4802;PC=0.001;Gene=ACOT11/NM_015547.3/1;CC=c.1629+2689A>G;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.941-202T>C;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:113:71:0:0:113:3400:393.60:209.26:184.34:1.00:1.00:1.00:60:37.2:0:0:59:90:40:NM_015547.3(ACOT11) c.1629+2689A>G,NM_015547.3(ACOT11) c.1629+2689A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 55077419 . C . . NT END=55078158;NT GT ./. 1 55077870 rs1702013 T C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7222,C/0.2778;Gene=ACOT11/NM_015547.3/1;CC=c.1629+4129T>C;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.800+289A>G;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:99:11.75:11.75:0.00:1.00:1.00:0.00:60:60.0:0:0:30:120:5:NM_015547.3(ACOT11) c.1629+4129T>C,NM_015547.3(ACOT11) c.1629+4129T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 1 55077973 rs1655529 T C 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.01018,C/0.9898;Gene=ACOT11/NM_015547.3/1;CC=c.1629+4232T>C;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.800+186A>G;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:8:0:0:8:193:23.05:23.05:0.00:1.00:1.00:0.00:60:71.9:0:0:50:101:34:NM_015547.3(ACOT11) c.1629+4232T>C,NM_015547.3(ACOT11) c.1629+4232T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 55078046 rs1655528 T C 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3225,C/0.6775;Gene=ACOT11/NM_015547.3/1;CC=c.1629+4305T>C;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.800+113A>G;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:446:51.28:51.28:0.00:1.00:1.00:0.00:60:52.3:0:0:43:108:35:NM_015547.3(ACOT11) c.1629+4305T>C,NM_015547.3(ACOT11) c.1629+4305T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 55078384 . C . . NT END=55080372;NT GT ./. 1 55078617 rs1702014 G A 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2502,A/0.7498;Gene=ACOT11/NM_015547.3/1;CC=c.1629+4876G>A;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.576-234C>T;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:93:11.15:0.00:11.15:1.00:0.00:1.00:60:75.8:0:0:89:61:11:NM_015547.3(ACOT11) c.1629+4876G>A,NM_015547.3(ACOT11) c.1629+4876G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 55080533 . C . . NT END=55081692;NT GT ./. 1 55080612 rs71045199 G GGTGTGT 98 idl,nt VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;Gene=ACOT11/NM_015547.3/1;CC=c.1629+6881_1629+6886dupTGTGTG;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.416-86_416-81dupACACAC;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GGTGTGT:45:16:32:0:14,1,30:427,23,1021:0.00,1.00,97.70:0.00,-0.03,14.22:0.00,1.03,83.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:17.4,151.0,74.0:0,0,2:0,0,0:124,95,96:16,53,55:9,0,13:-,NM_015547.3(ACOT11) c.1629+6871_1629+6872insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 55080629 rs1702015 A G 148 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.2588,G/0.7412;NP=1876;Gene=ACOT11/NM_015547.3/1;CC=c.1629+6888A>G;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.416-97T>C;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:C,G:41:9:0:0:1,40:10,1295:0.21,148.10:0.00,19.03:0.21,129.07:0.00,1.00:0.00,1.00:0.00,1.00:60,70:151.0,72.7:0,0:0,0:112,93:36,58:0,27:NM_015547.3(ACOT11) c.1629+6888A>G,NM_015547.3(ACOT11) c.1629+6888A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 55080635 rs1655525 G A 145 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=433;Gene=ACOT11/NM_015547.3/1;CC=c.1629+6894G>A;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.416-103C>T;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A,G:40:8:0:0:39,1:1288,32:145.37,0.00:17.55,0.00:127.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.9,147.0:0,0:0,0:113,149:37,-27:23,0:NM_015547.3(ACOT11) c.1629+6894G>A,NM_015547.3(ACOT11) c.1629+6894G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 55081846 . C . . NT END=55085536;NT GT ./. 1 55085499 rs11206396 T C 267 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.4133,C/0.5867;Gene=ACOT11/NM_015547.3/1;CC=c.1630-10908T>C;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.262+38A>G;VC=Intron;DM=ACOT11/START;DM=FAM151A/DUF2181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:62:0:0:71:2329:266.72:195.89:70.83:1.00:1.00:1.00:60:37.9:0:0:43:101:26:NM_015547.3(ACOT11) c.1630-10908T>C,NM_015547.3(ACOT11) c.1630-10908T>C:0.53,0.53:0.519683,0.519683 1 55085681 . C . . NT END=55088950;NT GT ./. 1 55088849 . TA T 10 idl,rn VT=DEL;SST=Single;DP=29;NP=32;PC=0.007;Gene=ACOT11/NM_015547.3/1;CC=c.1630-7546delA;VC=Intron;Gene=FAM151A/NM_176782.2/1;CC=c.118+101delT;VC=Intron;DM=ACOT11/START;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,TA,I,T:27:29:3:5:1,20,2,4:11,594,98,162:0.03,0.00,4.51,10.18:0.03,0.00,4.51,10.18:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.65:0.00,0.00,0.00,0.65:0.00,0.00,0.00,0.00:60,60,60,60:30.0,28.4,4.5,0.0:0,0,1,1:0,0,0,0:27,54,92,16:124,96,57,135:0,27,29,4:-,NM_015547.3(ACOT11) c.1630-7557delA:-,NOT_FOUND:-,NOT_FOUND 1 55089069 . G . . NT END=55118599;NT GT ./. 1 55089316 rs2060387 A C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7366,C/0.2634;PC=0.016;Gene=ACOT11/NM_015547.3/1;CC=c.1630-7091A>C;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:74.2:0:0:81:68:37:NM_015547.3(ACOT11) c.1630-7091A>C,NM_015547.3(ACOT11) c.1630-7091A>C:0.27,0.27:NOT_FOUND,NOT_FOUND 1 55089317 rs2060386 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7366,C/0.2634;Gene=ACOT11/NM_015547.3/1;CC=c.1630-7090T>C;VC=Intron;DM=ACOT11/START GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:74.2:0:0:82:67:37:NM_015547.3(ACOT11) c.1630-7090T>C,NM_015547.3(ACOT11) c.1630-7090T>C:0.27,0.27:NOT_FOUND,NOT_FOUND 1 55118566 rs1655520 C G 393 nt VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.05132,A/.,G/0.9487;PC=0.011;Gene=MROH7/NM_001039464.3/1;CC=c.-34C>G;VC=5UTR;Gene=MROH7/NM_001291332.1/0;CC=c.-214+10925C>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:109:82:0:0:109:3418:393.47:221.88:171.59:1.00:1.00:1.00:60:38.8:0:0:82:68:27:NR_037639.1(HEATR8-TTC4) n.=,NR_037639.1(HEATR8-TTC4) n.=:0.96,0.96:0.954082,0.954082 1 55119144 rs11206407 A G 122 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.6893,G/0.3107;Gene=MROH7/NM_001039464.3/1;CC=c.545A>G;ProtCh=p.H182R;VC=Missense;Gene=MROH7/NM_001291332.1/0;CC=c.-214+11503A>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:92:59:0:0:50,42:1658,1300:0.00,122.45:0.00,52.49:0.00,69.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,38.5:0,0:0,0:75,52:74,99:37,32:-,NM_001039464.2(HEATR8) c.545A>G (p.His182Arg):-,0.35:-,0.291764 1 55119289 rs9332417 G C 162 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.5795,C/0.4205;PC=0.032;Gene=MROH7/NM_001039464.3/1;CC=c.690G>C;ProtCh=p.L230=;VC=Silent;Gene=MROH7/NM_001291332.1/0;CC=c.-213-11551G>C;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:100:70:0:0:51,48,1:1678,1593,7:162.31,0.00,-0.16:94.06,0.00,-0.12:68.25,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.9,7.0,168.0:0,0,0:0,0,0:72,57,107:70,87,26:31,31,0:NM_001039464.2(HEATR8) c.690G>C (p.(=)),-:0.48,-:0.519145,- 1 55119515 rs1655519 T G 153 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=T/0.5745,A/.,G/0.4255;PC=0.001;Gene=MROH7/NM_001039464.3/1;CC=c.916T>G;ProtCh=p.Y306D;VC=Missense;Gene=MROH7/NM_001291332.1/0;CC=c.-213-11325T>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:121:81:0:0:52,69:1643,2215:153.12,0.00:73.85,0.00:79.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.8,29.8:0,0:0,0:72,57:76,91:30,36:NM_001039464.2(HEATR8) c.916T>G (p.Tyr306Asp),-:0.39,-:0.354538,- 1 55119546 rs1655518 A G 423 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.04692,G/0.9531;Gene=MROH7/NM_001039464.3/1;CC=c.947A>G;ProtCh=p.E316G;VC=Missense;Gene=MROH7/NM_001291332.1/0;CC=c.-213-11294A>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:119:76:0:0:118,1:3669,11:422.60,0.10:226.21,0.00:196.39,0.10:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,11.0:0,0:0,0:71,88:80,59:33,0:NM_001039464.2(HEATR8) c.=,NM_001039464.2(HEATR8) c.=:0.97,0.97:0.95882,0.95882 1 55119831 . G . . NT END=55130839;NT GT ./. 1 55130598 rs11206410 T G 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6398,G/0.3602;PC=0.029;Gene=MROH7/NM_001039464.3/1;CC=c.1232-242T>G;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.-213-242T>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:G,T:10:10:0:0:3,7:97,206:8.48,0.00:8.48,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:60,60:40.3,14.0:0,0:0,0:36,51:114,99:18,16:NM_001039464.2(HEATR8) c.1232-242T>G,-:0.4,-:NOT_FOUND,- 1 55130914 . G . . NT END=55134526;NT GT ./. 1 55130931 rs2078273 C T 74 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.6514,T/0.3486;Gene=MROH7/NM_001039464.3/1;CC=c.1305+18C>T;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.-140+18C>T;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:30:0:0:31,25:940,784:0.00,73.62:0.00,26.78:0.00,46.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.6,79.5:0,0:0,0:106,109:41,32:17,22:-,NM_001039464.2(HEATR8) c.1305+18C>T:-,0.38:-,0.345274 1 55130946 rs6703113 G C 67 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.6138,C/0.3862;Gene=MROH7/NM_001039464.3/1;CC=c.1305+33G>C;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.-140+33G>C;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:26:0:0:23,28:717,910:67.44,0.00:22.06,0.00:45.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:83.8,32.1:0,0:0,0:114,107:37,40:24,21:NM_001039464.2(HEATR8) c.1305+33G>C,-:0.42,-:0.368442,- 1 55130972 rs471724 C T 121 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.1344,T/0.8656;Gene=MROH7/NM_001039464.3/1;CC=c.1305+59C>T;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.-140+59C>T;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:10:0:0:33:1049:120.57:23.58:96.99:1.00:1.00:1.00:60:68.6:1:0:116:34:24:NM_001039464.2(HEATR8) c.1305+59C>T,NM_001039464.2(HEATR8) c.1305+59C>T:0.85,0.85:0.776172,0.776172 1 55134379 rs627095 C T 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1074,T/0.8926;Gene=MROH7/NM_001039464.3/1;CC=c.1306-148C>T;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.-139-148C>T;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:280:32.29:32.29:0.00:1.00:1.00:0.00:60:39.9:0:0:70:81:41:NM_001039464.2(HEATR8) c.1306-148C>T,NM_001039464.2(HEATR8) c.1306-148C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 1 55134487 rs478513 G A 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.6116,A/0.3884;Gene=MROH7/NM_001039464.3/1;CC=c.1306-40G>A;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.-139-40G>A;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:24:0:0:16,14:520,459:50.63,0.00:31.09,0.00:19.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,6.1:0,0:0,0:40,55:98,90:20,16:NM_001039464.2(HEATR8) c.1306-40G>A,-:0.35,-:0.289387,- 1 55134611 . G . . NT END=55136169;NT GT ./. 1 55136067 rs2251719 T G 88 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.07528,G/0.9247;Gene=MROH7/NM_001039464.3/1;CC=c.1390-103T>G;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.-55-105T>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:24:0:0:25:764:88.25:84.48:3.78:1.00:1.00:1.00:60:36.6:0:0:35:116:20:NM_001039464.2(HEATR8) c.1390-103T>G,NM_001039464.2(HEATR8) c.1390-103T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 55136250 . G . . NT END=55136472;NT GT ./. 1 55136529 rs480963 T C 144 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.621,C/0.379,G/.;PC=0.986;Gene=MROH7/NM_001039464.3/1;CC=c.1526T>C;ProtCh=p.V509A;VC=Missense;Gene=MROH7/NM_001291332.1/0;CC=c.80T>C;ProtCh=p.V27A;VC=Missense;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:100:77:0:0:47,1,52:1509,20,1653:143.52,0.37,0.00:64.31,0.46,0.00:79.21,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.7,104.0,10.5:0,0,0:0,0,0:85,143,77:57,8,70:30,0,28:NM_001039464.2(HEATR8) c.1526T>C (p.Val509Ala),-:0.34,-:0.277778,- 1 55136603 . G . . NT END=55138763;NT GT ./. 1 55138563 rs397805291 A AT 20 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=804;PC=0.001;Gene=MROH7/NM_001039464.3/1;CC=c.1600-199_1600-198insT;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.154-199_154-198insT;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:AT:6:6:6:0:6:174:20.26:20.26:0.00:1.00:1.00:0.00:60:12.3:0:0:42:108:27:NM_001039464.2(HEATR8) c.1600-201_1600-200insT,NM_001039464.2(HEATR8) c.1600-201_1600-200insT:1,1:NOT_FOUND,NOT_FOUND 1 55138673 rs564400 C T 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6959,T/0.3041;Gene=MROH7/NM_001039464.3/1;CC=c.1600-91C>T;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.154-91C>T;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:19:0:0:8,12:257,376:0.00,37.43:0.00,33.98:0.00,3.46:0.00,1.00:0.00,1.00:0.00,0.87:60,60:4.9,46.3:0,0:0,0:28,46:122,105:7,31:-,NM_001039464.2(HEATR8) c.1600-91C>T:-,0.26:-,NOT_FOUND 1 55138860 . g . . NT END=55139373;NT GT ./. 1 55139479 . G . . NT END=55139672;NT GT ./. 1 55139741 rs570218 A G 230 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.09026,G/0.9097;PC=0.996;Gene=MROH7/NM_001039464.3/1;CC=c.1853A>G;ProtCh=p.H618R;VC=Missense;Gene=MROH7/NM_001291332.1/0;CC=c.407A>G;ProtCh=p.H136R;VC=Missense;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A,G:63:46:0:0:1,62:35,2028:0.00,230.02:0.00,109.55:0.00,120.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,36.6:0,0:0,0:73,56:78,79:0,27:NM_001039464.2(HEATR8) c.1853A>G (p.His618Arg),NM_001039464.2(HEATR8) c.1853A>G (p.His618Arg):0.88,0.88:0.826698,0.826698 1 55139825 . G . . NT END=55144414;NT GT ./. 1 55139912 rs12122650 T G 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6949,G/0.3051;Gene=MROH7/NM_001039464.3/1;CC=c.1936+88T>G;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.490+88T>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:7:0:0:9,11:292,348:27.52,0.00:4.69,0.00:22.84,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:39.6,11.5:0,0:0,0:128,82:23,68:20,46:NM_001039464.2(HEATR8) c.1936+88T>G,-:0.33,-:NOT_FOUND,- 1 55144528 . G . . NT END=55144935;NT GT ./. 1 55145113 . G . . NT END=55145563;NT GT ./. 1 55145719 . G . . NT END=55148328;NT GT ./. 1 55145897 rs17396131 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7606,A/0.2394;Gene=MROH7/NM_001039464.3/1;CC=c.2381+179G>A;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.935+179G>A;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,G:10:0:0:0:4,6:112,207:10.18,0.00:0.00,0.00:10.18,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:40.8,2.3:0,0:0,0:87,128:61,23:20,11:NM_001039464.2(HEATR8) c.2381+179G>A,-:0.26,-:NOT_FOUND,- 1 55148468 . G . . NT END=55151930;NT GT ./. 1 55152122 . G . . NT END=55158096;NT GT ./. 1 55158235 . G . . NT END=55161048;NT GT ./. 1 55161164 . G . . NT END=55165993;NT GT ./. 1 55166135 . G . . NT END=55166815;NT GT ./. 1 55166842 rs1065173 C T 137 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.75,G/.,T/0.25;PC=0.907;Gene=MROH7/NM_001039464.3/1;CC=c.3132C>T;ProtCh=p.P1044=;VC=Silent;Gene=MROH7/NM_001291332.1/0;CC=c.1686C>T;ProtCh=p.P562=;VC=Silent;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:93:71:0:0:47,46:1539,1435:0.00,137.37:0.00,75.47:0.00,61.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,39.1:0,0:0,0:71,56:76,84:36,33:-,NM_001039464.2(HEATR8) c.3132C>T (p.(=)):-,0.24:-,0.288422 1 55166996 . G . . NT END=55167762;NT GT ./. 1 55167545 rs570873713 G GT 17 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=8;Gene=MROH7/NM_001039464.3/1;CC=c.3286-206dupT;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.1840-206dupT;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:G,GT:7:8:6:0:2,5:56,194:0.00,16.71:0.00,16.71:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:39.0,24.0:0,1:0,0:110,48:40,85:22,29:-,NM_001039464.2(HEATR8) c.3286-218_3286-217insT:-,NOT_FOUND:-,NOT_FOUND 1 55167773 rs646356 T A 267 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.08207,A/0.9179;PC=0.273;Gene=MROH7/NM_001039464.3/1;CC=c.3296T>A;ProtCh=p.V1099D;VC=Missense;Gene=MROH7/NM_001291332.1/0;CC=c.1850T>A;ProtCh=p.V617D;VC=Missense;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:74:61:0:0:74:2314:266.55:166.75:99.81:1.00:1.00:1.00:60:40.3:0:0:71:74:37:NM_001039464.2(HEATR8) c.3296T>A (p.Val1099Asp),NM_001039464.2(HEATR8) c.3296T>A (p.Val1099Asp):0.91,0.91:0.878312,0.878312 1 55167919 . G . . NT END=55168295;NT GT ./. 1 55168084 rs644955 C T 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.3608,T/0.6392;Gene=MROH7/NM_001039464.3/1;CC=c.3441+166C>T;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.1995+166C>T;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:33:13:0:0:1,13,19:14,414,577:0.33,0.00,57.33:-0.08,0.00,22.53:0.40,0.00,34.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:26.0,7.5,41.5:0,0,0:0,0,0:4,92,102:147,59,48:0,39,25:-,NM_001039464.2(HEATR8) c.3441+166C>T:-,0.6:-,NOT_FOUND 1 55168419 . G . . NT END=55172107;NT GT ./. 1 55172211 . G . . NT END=55174686;NT GT ./. 1 55174750 . G . . NT END=55175618;NT GT ./. 1 55175322 rs757837 A G 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5745,G/0.4255;Gene=MROH7/NM_001039464.3/1;CC=c.3731-297A>G;VC=Intron;Gene=MROH7/NM_001291332.1/0;CC=c.2285-297A>G;VC=Intron;Gene=MROH7/NR_026782.2/0;VC=NonCoding;Gene=MROH7/NR_111931.1/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:7:7:0:0:3,4:105,126:0.00,12.43:0.00,12.43:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:40.3,31.5:0,0:0,0:59,62:91,88:6,42:-,NM_001039464.2(HEATR8) c.3731-297A>G:-,0.41:-,NOT_FOUND 1 55175861 . C . . NT END=55181581;NT GT ./. 1 55181480 rs28384498 A G 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.8658,G/0.1342,T/.;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:10,11:314,345:0.00,33.43:0.00,33.43:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.3,49.6:0,0:0,0:26,44:123,106:19,19:-,NR_037639.1(HEATR8-TTC4) n.4275+197A>G:-,0.11:-,NOT_FOUND 1 55181693 . G . . NT END=55182272;NT GT ./. 1 55181843 rs76010054 G T 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9209,T/0.07907;PC=0.001;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.111+151G>T;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.111+151G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,T:9:0:0:0:3,6:99,189:0.00,19.27:0.00,0.00:0.00,19.27:0.00,0.99:0.00,0.00:0.00,0.99:60,60:22.0,38.3:0,0:0,0:133,99:11,50:11,11:-,NM_004623.4(TTC4) c.111+151G>T:-,0.06:-,NOT_FOUND 1 55182229 rs3820104 A G 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.9479,G/0.05212;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.112-44A>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.112-44A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:27:25:0:0:5,22:173,600:0.00,64.68:0.00,54.17:0.00,10.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,56.0:0,0:0,0:48,26:102,125:9,23:-,NM_004623.4(TTC4) c.112-44A>G:-,0.04:-,0.003076 1 55182300 rs1147990 T A 175 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.3317,A/0.6683;PC=1.000;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.139T>A;ProtCh=p.S47T;VC=Missense;Gene=TTC4/NM_004623.4/1;CC=c.139T>A;ProtCh=p.S47T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A:48:34:0:0:48:1521:174.94:97.78:77.16:1.00:1.00:1.00:60:45.7:0:0:64:80:27:NM_004623.4(TTC4) c.139T>A (p.Ser47Thr),NM_004623.4(TTC4) c.139T>A (p.Ser47Thr):0.66,0.66:0.524912,0.524912 1 55182391 . G . . NT END=55183164;NT GT ./. 1 55182448 rs3737822 G A 50 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9207,A/0.07927;PC=0.080;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.229+58G>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.229+58G>A;VC=Intron;DM=TTC4/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:8:0:0:15,13:516,411:50.36,0.00:0.19,0.00:50.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,1.9:0,0:0,0:92,118:59,32:23,19:NM_004623.4(TTC4) c.229+58G>A,-:0.06,-:NOT_FOUND,- 1 55182550 rs3737823 C T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8686,T/0.1314;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.229+160C>T;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.229+160C>T;VC=Intron;DM=TTC4/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:7:0:0:0:4,3:124,100:0.00,9.36:0.00,0.00:0.00,9.36:0.00,0.69:0.00,0.00:0.00,0.69:60,60:8.2,75.0:0,0:0,0:59,107:92,44:25,18:-,NM_004623.4(TTC4) c.229+160C>T:-,0.1:-,NOT_FOUND 1 55183132 rs3766415 A G 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.8698,G/0.1302;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.230-33A>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.230-33A>G;VC=Intron;DM=TTC4/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:54:46:0:0:32,20,2:1051,579,31:0.00,52.34,0.91:0.00,40.90,-0.35:0.00,11.43,1.26:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.5,45.2,91.0:0,0,0:0,0,0:63,58,56:82,93,95:27,34,8:-,NM_004623.4(TTC4) c.230-33A>G:-,0.1:-,0.091525 1 55183327 . G . . NT END=55186835;NT GT ./. 1 55186686 rs10489663 G A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8698,A/0.1302;PC=0.004;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.392-150G>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.392-150G>A;VC=Intron;DM=TTC4/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:7:7:0:0:4,3:128,104:12.63,0.00:12.63,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:60.2,0.7:0,0:0,0:48,15:102,135:44,7:NM_004623.4(TTC4) c.392-150G>A,-:0.1,-:NOT_FOUND,- 1 55186914 . G . . NT END=55188347;NT GT ./. 1 55186925 rs3737825 G A 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.8698,A/0.1302;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.469+12G>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.469+12G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:14:0:0:14,17:481,549:45.52,0.00:13.33,0.00:32.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,3.5:0,0:0,0:105,92:45,55:30,18:NM_004623.4(TTC4) c.469+12G>A,-:0.1,-:0.094802,- 1 55188189 rs12092947 G A 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.8698,A/0.1302;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.470-159G>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.470-159G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:31:0:0:14,17:423,563:39.71,0.00:39.71,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:114.3,9.8:0,0:0,0:49,58:101,90:12,40:NM_004623.4(TTC4) c.470-159G>A,-:0.1,-:NOT_FOUND,- 1 55188191 rs79031322 A G 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.9219,G/0.07808;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.470-157A>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.470-157A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:31:0:0:17,14:538,450:0.00,42.41:0.00,42.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.8,114.3:0,0:0,0:60,51:88,99:40,12:-,NM_004623.4(TTC4) c.470-157A>G:-,0.06:-,NOT_FOUND 1 55188249 rs17110982 G A 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.9227,A/0.07728;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.470-99G>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.470-99G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:55:0:0:26,35:833,1095:77.63,0.00:62.01,0.00:15.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:97.5,15.0:0,0:0,0:40,44:109,106:30,28:NM_004623.4(TTC4) c.470-99G>A,-:0.06,-:NOT_FOUND,- 1 55188269 rs12092998 G A 88 nt VT=SNV;PN=T;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.8698,A/0.1302;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.470-79G>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.470-79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:65:0:0:32,40:943,1323:87.94,0.00:66.58,0.00:21.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.4,12.7:0,0:0,0:47,46:102,100:28,22:NM_004623.4(TTC4) c.470-79G>A,-:0.1,-:NOT_FOUND,- 1 55188382 rs11550481 C T 196 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.8706,T/0.1294;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.504C>T;ProtCh=p.A168=;VC=Silent;Gene=TTC4/NM_004623.4/1;CC=c.504C>T;ProtCh=p.A168=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:115:80:0:0:54,61:1644,2017:0.00,196.28:0.00,112.95:0.00,83.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,48.4:0,0:0,0:75,75:61,75:33,39:-,NM_004623.4(TTC4) c.504C>T (p.(=)):-,0.1:-,0.094726 1 55188473 . G . . NT END=55194018;NT GT ./. 1 55188492 rs201524669 CAATTAGCATTTGCTAATTAGCAGT C 73 nt VT=DEL;SST=Single;DP=80;DB;DBA=NA;PAF=CAATTAGCATTTGCTAATTAGCAGT/0.9479,C/0.05212;NP=50;PC=0.004;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.594+31_594+54delTGCTAATTAGCAGTAATTAGCATT;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.594+31_594+54delTGCTAATTAGCAGTAATTAGCATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAATTAGCATTTGCTAATTAGCAGT,C:80:45:0:28:52,28:1718,826:0.00,73.29:0.00,32.67:0.00,40.61:0.00,1.00:0.00,1.00:0.00,1.00:60,70:17.0,6.0:0,0:0,0:110,84:12,66:28,16:-,NM_004623.4(TTC4) c.594+21_594+44delAATTAGCATTTGCTAATTAGCAGT:-,NOT_FOUND:-,0.002476 1 55194106 . G . . NT END=55197158;NT GT ./. 1 55194188 rs4462191 C G 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.9054,G/0.09465;PC=0.013;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.681+83C>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.681+83C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:4:0:0:16,11:563,369:0.00,34.22:0.00,4.55:0.00,29.67:0.00,1.00:0.00,0.88:0.00,1.00:60,60:1.3,36.6:0,0:0,0:113,134:37,17:22,10:-,NM_004623.4(TTC4) c.681+83C>G:-,0.06:-,NOT_FOUND 1 55194293 rs12070932 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8409,G/0.1591;PC=0.002;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.681+188A>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.681+188A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:9:0:0:0:6,3:201,104:0.00,9.34:0.00,0.00:0.00,9.34:0.00,0.64:0.00,0.00:0.00,0.64:60,60:0.0,60.3:0,0:0,0:84,76:66,72:41,7:-,NM_004623.4(TTC4) c.681+188A>G:-,0.12:-,NOT_FOUND 1 55194355 rs12066154 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8409,C/0.1591;PC=0.003;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.681+250T>C;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.681+250T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:C,T:6:0:0:0:3,3:74,101:6.99,0.00:0.00,0.00:6.99,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:67.0,0.0:0,0:0,0:131,113:19,38:7,21:NM_004623.4(TTC4) c.681+250T>C,-:0.12,-:NOT_FOUND,- 1 55197374 . G . . NT END=55199301;NT GT ./. 1 55197528 rs72909896 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.203;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.681+3423T>C;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.896+155T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,T:13:0:0:0:6,7:146,213:13.54,0.00:0.00,0.00:13.54,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:38.8,24.0:3,0:0,0:96,93:54,58:21,23:NM_004623.4(TTC4) c.896+155T>C,-:0.11,-:NOT_FOUND,- 1 55197532 rs550967779 T TGAACCTTGACTA 8 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8431,TA/0.1569,TGAACCTTGACTA/.;NP=3;PC=0.055;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.681+3428_681+3439dupGAACCTTGACTA;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.896+160_896+171dupGAACCTTGACTA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:T,TGAACCTTGACTA:13:0:3:0:10,3:330,97:0.00,8.08:0.00,0.00:0.00,8.08:0.00,0.58:0.00,0.00:0.00,0.58:60,60:28.1,40.0:1,0:0,0:101,90:49,61:26,20:-,NM_004623.4(TTC4) c.896+159_896+160insGAACCTTGACTA:-,NOT_FOUND:-,NOT_FOUND 1 55199104 rs60670381 T A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3722,A/0.6278;PC=0.002;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.682-4151T>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.897-198T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,T,D:4:4:0:1:2,1,1:67,34,32:6.75,0.00,2.95:6.75,0.00,2.95:0.00,0.00,0.00:0.51,0.00,0.00:0.51,0.00,0.00:0.00,0.00,0.00:60,60,60:50.5,0.0,28.0:1,1,0:0,0,0:49,97,12:101,54,139:36,0,0:NM_004623.4(TTC4) c.897-198T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 55199242 rs137973317 C T 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=27;PC=0.667;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.682-4013C>T;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.897-60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:25:0:0:12,16:372,523:0.00,51.62:0.00,35.81:0.00,15.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,39.4:0,0:0,0:60,21:90,129:38,13:-,NM_004623.4(TTC4) c.897-60C>T:-,0.0018:-,0.006789 1 55199384 . G . . NT END=55203254;NT GT ./. 1 55199419 rs201216267 AATTTTTTTTTT A 14 idl,nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=AATTTTTTTTTT/0.9097,A/0.09026;NP=14;PC=0.001;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.682-3835_682-3825delATTTTTTTTTT;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.978+37_978+47delATTTTTTTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:AATTTTTTTTTT,I,A:23:11:3:7:15,3,5:362,97,220:0.00,7.55,14.06:0.00,2.48,0.97:0.00,5.07,13.09:0.00,0.00,0.83:0.00,0.00,0.87:0.00,0.00,0.97:60,60,60:24.2,0.0,16.6:3,0,2:0,0,0:133,123,71:18,18,80:8,3,12:-,NM_004623.4(TTC4) c.978+37_978+47delATTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 55199420 rs561719613 A T 9 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.064;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.682-3835A>T;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.978+37A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,T,D:14:7:0:13:8,4,2:235,106,66:0.00,9.14,2.13:0.00,2.02,-0.25:0.00,7.12,2.38:0.00,0.76,0.00:0.00,0.86,0.00:0.00,0.94,0.00:60,60,60:4.2,44.2,54.0:1,0,1:0,0,0:134,145,29:15,5,122:4,4,15:-,NM_004623.4(TTC4) c.978+37A>T:-,NOT_FOUND:-,NOT_FOUND 1 55199433 rs200180684 T A 14 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.682-3822T>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.978+50T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:A,T:18:7:0:0:5,13:167,402:14.47,0.00:1.09,0.00:13.38,0.00:0.87,0.00:0.87,0.00:0.98,0.00:60,60:0.0,17.3:5,7:0,0:78,79:68,71:5,52:NM_004623.4(TTC4) c.978+50T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 55203135 rs3737829 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8411,G/0.1589;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.682-120A>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.979-120A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,G:12:12:0:0:7,5:213,155:0.00,14.35:0.00,14.35:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:6.7,47.4:0,0:0,0:37,79:114,72:18,52:-,NM_004623.4(TTC4) c.979-120A>G:-,0.12:-,NOT_FOUND 1 55203156 rs3737830 A G 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.8405,G/0.1595;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.682-99A>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.979-99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:20:20:0:0:15,5:461,150:0.00,12.51:0.00,12.57:0.00,-0.06:0.00,0.85:0.00,0.85:0.00,0.50:60,60:6.8,58.2:0,0:0,0:17,48:133,103:12,28:-,NM_004623.4(TTC4) c.979-99A>G:-,0.12:-,NOT_FOUND 1 55203338 . G . . NT END=55207083;NT GT ./. 1 55203430 rs12071624 T G 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.8401,G/0.1599;PC=0.213;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.764+93T>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.1061+93T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:6:0:0:16,13:533,393:52.28,0.00:13.12,0.00:39.16,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:79.4,1.9:0,0:0,0:105,66:42,85:24,40:NM_004623.4(TTC4) c.1061+93T>G,-:0.1,-:NOT_FOUND,- 1 55203433 rs12066201 G A 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.8409,A/0.1591;PC=0.104;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.764+96G>A;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.1061+96G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:5:0:0:15,13:476,440:46.35,0.00:9.01,0.00:37.34,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:82.9,1.9:0,0:0,0:110,54:39,96:26,36:NM_004623.4(TTC4) c.1061+96G>A,-:0.11,-:NOT_FOUND,- 1 55203630 rs11206425 A G 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8399,G/0.1601;PC=0.003;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.764+293A>G;VC=Intron;Gene=TTC4/NM_004623.4/1;CC=c.1061+293A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:1:0:0:3,2:101,69:0.00,6.39:0.00,-0.11:0.00,6.50:0.00,0.46:0.00,0.60:0.00,0.46:60,60:0.0,46.5:0,0:0,0:62,80:88,70:56,6:-,NM_004623.4(TTC4) c.1061+293A>G:-,0.12:-,NOT_FOUND 1 55207187 . C . . NT END=55223406;NT GT ./. 1 55207216 rs41297863 T C 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.8399,C/0.1601;PC=0.011;Gene=MROH7-TTC4/NR_037639.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037640.2/0;VC=NonCoding;Gene=MROH7-TTC4/NR_037641.2/0;VC=NonCoding;Gene=TTC4/NM_001291333.1/0;CC=c.*30T>C;VC=3UTR;Gene=TTC4/NM_004623.4/1;CC=c.*30T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:13:0:0:22,20:711,620:68.94,0.00:12.22,0.00:56.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.7,2.2:0,0:0,0:95,98:55,51:30,24:NR_037639.1(HEATR8-TTC4) n.5358T>C,-:0.12,-:0.123328,- 1 55209901 . CCA C 7 idl,rn VT=DEL;SST=Single;DP=7;NP=2;PC=1.000;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CCA,C:5:7:0:5:2,3:72,134:0.00,6.51:0.00,3.25:0.00,3.25:0.00,0.69:0.00,0.69:0.00,0.93:60,60:0.0,41.0:0,2:0,0:99,57:27,94:21,24:-,chr1 g.55209902_55209903delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 55220411 rs34411680 C G 138 nt VT=SNV;PN=C;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.87,G/0.13;PC=0.847 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:114:67:0:0:67,47:2071,1488:0.00,137.63:0.00,41.28:0.00,96.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,51.0:0,0:0,0:69,94:81,57:40,33:-,chr1 g.55220410C>G (intergenic):-,0.13:-,NOT_FOUND 1 55221000 rs12756345 A G 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8293,G/0.1707;PC=0.071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:1:0:0:7,11:220,356:0.00,35.61:0.00,1.83:0.00,33.78:0.00,1.00:0.00,0.74:0.00,1.00:60,70:0.0,39.6:0,0:0,0:119,93:25,58:7,33:-,chr1 g.55220999A>G (intergenic):-,0.16:-,NOT_FOUND 1 55221031 rs57882460 A AT 26 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6893,AA/.,AAT/.,AT/0.3107;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6893,AT/0.3107;DB;DBA=NA;PAF=A/0.6893,AT/0.3107;NP=1;NP=1;NP=1;NP=379;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,AT:12:0:8:0:4,8:128,254:0.00,25.90:0.00,0.00:0.00,25.90:0.00,1.00:0.00,0.00:0.00,1.00:60,70:9.0,36.6:0,0:0,0:113,95:38,55:27,31:-,chr1 g.55221031_55221032insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 55224131 rs2270004 T C 234 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=143;DB;DBA=NA;PAF=T/0.8407,C/0.1593;PC=0.022;Gene=PARS2/NM_152268.3/1;CC=c.704A>G;ProtCh=p.N235S;VC=Missense;DM=PARS2/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:143:77:0:0:74,69:2414,2126:233.65,0.00:88.70,0.00:144.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,6.3:0,0:0,0:84,81:63,69:33,36:NM_152268.3(PARS2) c.704A>G (p.Asn235Ser),-:0.15,-:0.143242,- 1 55224751 rs11577368 C A 188 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.8698,A/0.1302;Gene=PARS2/NM_152268.3/1;CC=c.84G>T;ProtCh=p.R28S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:142:86:0:0:65,77:1993,2467:187.72,0.00:80.85,0.00:106.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,5.5:0,0:0,0:70,70:77,77:41,35:NM_152268.3(PARS2) c.84G>T (p.Arg28Ser),-:0.13,-:0.116485,- 1 55224835 . G . . NT END=55246915;NT GT ./. 1 55247097 rs2286203 G A 321 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=214;DB;DBA=NA;PAF=G/0.8546,A/0.1454;PC=0.003;Gene=TTC22/NM_001114108.1/1;CC=c.1529C>T;ProtCh=p.A510V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:214:168:0:0:106,106,2:3340,3292,22:320.77,0.00,-0.18:208.40,0.00,-0.03:112.37,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.5,8.4,44.0:0,0,0:0,0,0:59,65,66:90,85,85:29,42,24:NM_001114108.1(TTC22) c.1529C>T (p.Ala510Val),-:0.16,-:NOT_FOUND,- 1 55247453 . C . . NT END=55247997;NT GT ./. 1 55247852 rs12143541 A G 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9325,G/0.06749;Gene=TTC22/NM_001114108.1/1;CC=c.1173+146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:18:0:0:9,10:260,287:0.00,27.76:0.00,26.48:0.00,1.27:0.00,1.00:0.00,1.00:0.00,0.68:60,60:27.9,41.1:0,0:0,0:65,56:84,94:35,50:-,NM_001114108.1(TTC22) c.1173+146T>C:-,0.08:-,NOT_FOUND 1 55248074 rs12144325 A G 159 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=A/0.9377,G/0.0623;PC=1.000;Gene=TTC22/NM_001114108.1/1;CC=c.1097T>C;ProtCh=p.L366P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:129:90:0:0:75,54:2518,1715:0.00,159.18:0.00,75.16:0.00,84.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,37.9:0,0:0,0:68,68:74,79:34,29:-,NM_001114108.1(TTC22) c.1097T>C (p.Leu366Pro):-,0.08:-,0.125493 1 55248151 . C . . NT END=55250223;NT GT ./. 1 55250479 rs78948067 C T 100 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.9371,T/0.0629;Gene=TTC22/NM_001114108.1/1;CC=c.1020+1177G>A;VC=Intron;Gene=TTC22/NM_017904.3/0;CC=c.*740G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:50:0:0:47,31:1493,1079:0.00,99.93:0.00,40.15:0.00,59.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,37.4:0,0:0,0:88,73:58,76:40,22:-,NM_001114108.1(TTC22) c.1020+1177G>A:-,0.08:-,NOT_FOUND 1 55250527 . a . . NT END=55251655;NT GT ./. 1 55251512 rs2270000 C T 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8586,T/0.1414;Gene=TTC22/NM_001114108.1/1;CC=c.1020+144G>A;VC=Intron;Gene=TTC22/NM_017904.3/0;CC=c.1020+144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:12,9:346,267:0.00,24.75:0.00,24.75:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.1,30.8:0,0:0,0:65,44:86,107:35,41:-,NM_001114108.1(TTC22) c.1020+144G>A:-,0.11:-,NOT_FOUND 1 55251689 rs586462 T C 269 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=3460;PC=0.996;Gene=TTC22/NM_001114108.1/1;CC=c.987A>G;ProtCh=p.E329=;VC=Silent;Gene=TTC22/NM_017904.3/0;CC=c.987A>G;ProtCh=p.E329=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:50:0:0:74:2344:269.45:146.13:123.32:1.00:1.00:1.00:60:45.6:0:0:67:81:30:NM_001114108.1(TTC22) c.=,NM_001114108.1(TTC22) c.=:0.99,0.99:0.997155,0.997155 1 55251818 . C . . NT END=55252629;NT GT ./. 1 55252514 rs11581256 C T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9371,T/0.0629;Gene=TTC22/NM_001114108.1/1;CC=c.858+116G>A;VC=Intron;Gene=TTC22/NM_017904.3/0;CC=c.858+116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:15:15:0:0:10,5:319,134:0.00,11.63:0.00,11.63:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:11.9,39.4:0,0:0,0:38,25:109,124:20,23:-,NM_001114108.1(TTC22) c.858+116G>A:-,0.08:-,NOT_FOUND 1 55252749 . C . . NT END=55253383;NT GT ./. 1 55253346 rs2269999 G A 66 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.6705,A/0.3295;Gene=TTC22/NM_001114108.1/1;CC=c.739+38C>T;VC=Intron;Gene=TTC22/NM_017904.3/0;CC=c.739+38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:45:0:0:23,28:704,894:66.09,0.00:56.52,0.00:9.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,4.5:0,0:0,0:52,32:98,116:34,21:NM_001114108.1(TTC22) c.739+38C>T,-:0.33,-:0.259707,- 1 55253500 . C . . NT END=55253714;NT GT ./. 1 55253575 rs665118 T C 207 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=2820;Gene=TTC22/NM_001114108.1/1;CC=c.624-76A>G;VC=Intron;Gene=TTC22/NM_017904.3/0;CC=c.624-76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:C:59:29:0:0:59:1789:206.89:102.06:104.83:1.00:1.00:1.00:60:37.6:0:0:85:66:41:NM_001114108.1(TTC22) c.624-76A>G,NM_001114108.1(TTC22) c.624-76A>G:1,1:NOT_FOUND,NOT_FOUND 1 55253771 . C . . NT END=55266269;NT GT ./. 1 55266837 . G . . NT END=55271789;NT GT ./. 1 55266845 rs1147984 C T 363 nt VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.5002,T/0.4998;PC=0.001;Gene=TTC22/NM_001114108.1/1;CC=c.-9G>A;VC=5UTR;Gene=TTC22/NM_017904.3/0;CC=c.-9G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:101:43:0:0:1,1,99:9,31,3184:0.00,1.58,363.41:0.00,0.00,110.26:0.00,1.58,253.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:77.0,259.0,46.7:0,0,0:0,0,0:102,54,94:49,96,54:0,0,25:NM_001114108.1(TTC22) c.-9G>A,NM_001114108.1(TTC22) c.-9G>A:0.48,0.48:0.579038,0.579038 1 55271495 rs2077061 G T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5012,T/0.4988 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:153:17.68:17.68:0.00:1.00:1.00:0.00:60:32.6:0:0:26:125:6:NM_001110533.1(C1orf177) c.-54-u241G>T,NM_001110533.1(C1orf177) c.-54-u241G>T:0.48,0.48:NOT_FOUND,NOT_FOUND 1 55271774 rs757581 A G 251 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.4499,G/0.5501;Gene=LEXM/NM_001110533.1/0;CC=c.-16A>G;VC=5UTR;Gene=LEXM/NM_152607.2/1;CC=c.-16A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:72:57:0:0:72:2165:250.60:148.05:102.56:1.00:1.00:1.00:60:37.8:0:0:48:102:24:NM_001110533.1(C1orf177) c.-16A>G,NM_001110533.1(C1orf177) c.-16A>G:0.53,0.53:0.583076,0.583076 1 55271894 . G . . NT END=55272668;NT GT ./. 1 55272481 rs685648 T C 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=LEXM/NM_001110533.1/0;CC=c.105-188T>C;VC=Intron;Gene=LEXM/NM_152607.2/1;CC=c.105-188T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:244:27.74:27.74:0.00:1.00:1.00:0.00:60:45.4:0:0:46:105:28:NM_001110533.1(C1orf177) c.105-188T>C,NM_001110533.1(C1orf177) c.105-188T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 55272757 . G . . NT END=55273198;NT GT ./. 1 55273364 . G . . NT END=55273561;NT GT ./. 1 55273580 rs9782980 G T 252 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.502,A/.,T/0.498;PC=0.998;Gene=LEXM/NM_001110533.1/0;CC=c.376G>T;ProtCh=p.G126C;VC=Missense;Gene=LEXM/NM_152607.2/1;CC=c.376G>T;ProtCh=p.G126C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:66:44:0:0:66:2202:251.57:133.30:118.27:1.00:1.00:1.00:60:41.9:0:0:78:64:32:NM_001110533.1(C1orf177) c.376G>T (p.Gly126Cys),NM_001110533.1(C1orf177) c.376G>T (p.Gly126Cys):0.48,0.48:0.568199,0.568199 1 55273685 . G . . NT END=55277466;NT GT ./. 1 55277347 rs116664472 G A 80 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.987,A/0.01298;NP=49;Gene=LEXM/NM_001110533.1/0;CC=c.481-120G>A;VC=Intron;Gene=LEXM/NM_152607.2/1;CC=c.481-120G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:19:0:0:21:704:80.41:68.98:11.43:1.00:1.00:1.00:60:67.3:0:0:64:85:34:NM_001110533.1(C1orf177) c.481-120G>A,NM_001110533.1(C1orf177) c.481-120G>A:0.01,0.01:NOT_FOUND,NOT_FOUND 1 55277430 rs10788986 T A 95 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5248,A/0.4752;Gene=LEXM/NM_001110533.1/0;CC=c.481-37T>A;VC=Intron;Gene=LEXM/NM_152607.2/1;CC=c.481-37T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:12:0:0:26:828:95.19:32.69:62.50:1.00:1.00:1.00:60:54.0:0:0:63:75:40:NM_001110533.1(C1orf177) c.481-37T>A,NM_001110533.1(C1orf177) c.481-37T>A:0.46,0.46:0.560049,0.560049 1 55277599 rs600499 T C 441 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=NA;NP=3466;Gene=LEXM/NM_001110533.1/0;CC=c.613T>C;ProtCh=p.Y205H;VC=Missense;Gene=LEXM/NM_152607.2/1;CC=c.613T>C;ProtCh=p.Y205H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:119:95:0:0:117,1,1:3876,10,8:441.25,0.08,0.00:283.55,0.08,0.00:157.70,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.3,215.0,105.0:0,0,0:0,0,0:75,56,104:68,95,47:32,0,0:NM_001110533.1(C1orf177) c.=,NM_001110533.1(C1orf177) c.=:1,1:0.999923,0.999923 1 55277605 . G . . NT END=55277718;NT GT ./. 1 55277863 . G . . NT END=55279486;NT GT ./. 1 55279345 rs375148911 CCCGGCCT C 27 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CCCGGCCT/0.05931,C/0.9407;DB;DBA=NA;PAF=CCCGGCCT/0.05931,C/0.9407;DB;DBA=NA;PAF=CCCGGCCT/0.05931,C/0.9407;NP=728;PC=0.003;Gene=LEXM/NM_001110533.1/0;CC=c.763-130_763-124delCCTCCGG;VC=Intron;Gene=LEXM/NM_152607.2/1;CC=c.763-130_763-124delCCTCCGG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:CCCGGCCT,C:10:10:0:8:2,8:61,255:0.00,27.14:0.00,27.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.0,0.0:0,0:0,0:138,88:9,62:6,18:-,NM_001110533.1(C1orf177) c.763-141_763-135delCCGGCCT:-,0.99:-,NOT_FOUND 1 55279649 . G . . NT END=55280586;NT GT ./. 1 55280713 . G . . NT END=55282661;NT GT ./. 1 55282556 rs733168 A G 104 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.4217,G/0.5783;Gene=LEXM/NM_001110533.1/0;CC=c.1051-106A>G;VC=Intron;Gene=LEXM/NM_152607.2/1;CC=c.1051-106A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:27:0:0:27:908:103.67:95.77:7.90:1.00:1.00:1.00:60:36.8:0:0:43:107:18:NM_001110533.1(C1orf177) c.1051-106A>G,NM_001110533.1(C1orf177) c.1051-106A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 55282796 . G . . NT END=55307288;NT GT ./. 1 55282979 rs4926657 A C 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4213,C/0.5787,T/.;PC=0.681;Gene=LEXM/NM_001110533.1/0;CC=c.1184+184A>C;VC=Intron;Gene=LEXM/NM_152607.2/1;CC=c.1184+184A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:0:0:0:16:441:51.55:0.00:51.55:1.00:0.00:1.00:60:49.4:0:0:89:62:24:NM_001110533.1(C1orf177) c.1184+184A>C,NM_001110533.1(C1orf177) c.1184+184A>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 55307376 . g . . NT END=55307473;NT GT ./. 1 55307547 . a . . NT END=55317905;NT GT ./. 1 55318060 . C . . NT END=55319106;NT GT ./. 1 55319286 . C . . NT END=55319709;NT GT ./. 1 55319902 rs718265 A G 248 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.3724,G/0.6276;PC=1.000;Gene=DHCR24/NM_014762.3/1;CC=c.1026T>C;ProtCh=p.I342=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:25:0:0:66:2168:248.21:61.39:186.82:1.00:1.00:1.00:60:40.5:0:0:104:40:32:NM_014762.3(DHCR24) c.1026T>C (p.(=)),NM_014762.3(DHCR24) c.1026T>C (p.(=)):0.6,0.6:0.666154,0.666154 1 55319908 . C . . NT END=55330975;NT GT ./. 1 55330756 rs2303533 G C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6206,C/0.3794;PC=0.004;Gene=DHCR24/NM_014762.3/1;CC=c.1020+220C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,G:6:6:0:0:3,3:100,89:9.63,0.00:9.63,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.3,14.3:0,0:0,0:21,16:130,135:5,1:NM_014762.3(DHCR24) c.1020+220C>G,-:0.37,-:NOT_FOUND,- 1 55330966 rs611057 T C 288 nt VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.01138,C/0.9886;Gene=DHCR24/NM_014762.3/1;CC=c.1020+10A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:67:0:0:76:2520:288.21:180.85:107.36:1.00:1.00:1.00:60:38.4:0:0:55:93:23:NM_014762.3(DHCR24) c.1020+10A>G,NM_014762.3(DHCR24) c.1020+10A>G:0.99,0.99:0.987929,0.987929 1 55331120 . C . . NT END=55337022;NT GT ./. 1 55331387 . C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;Gene=DHCR24/NM_014762.3/1;CC=c.877-268G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:9:0:0:0:3,6:91,204:0.00,20.77:0.00,0.00:0.00,20.77:0.00,0.99:0.00,0.00:0.00,0.99:60,60:24.7,38.0:0,0:0,0:137,123:12,27:7,10:-,NM_014762.3(DHCR24) c.877-268G>A:-,NOT_FOUND:-,NOT_FOUND 1 55336950 rs608458 C G 121 nt VT=SNV;PN=A;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.4213,G/0.5787,T/.;PC=0.003;Gene=DHCR24/NM_014762.3/1;CC=c.876+73G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:71:66:0:0:32,39:994,1239:0.00,121.25:0.00,85.16:0.00,36.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,37.9:0,0:0,0:68,61:83,90:27,31:-,NM_014762.3(DHCR24) c.876+73G>C:-,0.55:-,NOT_FOUND 1 55337287 . C . . NT END=55340765;NT GT ./. 1 55340885 . C . . NT END=55341614;NT GT ./. 1 55341721 . C . . NT END=55349290;NT GT ./. 1 55341915 rs638944 T G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5152,G/0.4848;Gene=DHCR24/NM_014762.3/1;CC=c.388-195A>C;VC=Intron;DM=DHCR24/FAD_binding_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:G,T:8:0:0:0:3,5:97,164:8.83,0.00:0.00,0.00:8.83,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:32.3,36.8:0,0:0,0:121,122:30,29:4,7:NM_014762.3(DHCR24) c.388-195A>C,-:0.48,-:NOT_FOUND,- 1 55349447 . C . . NT END=55352290;NT GT ./. 1 55352476 . G . . NT END=55352561;NT GT ./. 1 55352793 . G . . NT END=55446738;NT GT ./. 1 55446373 rs2253476 C A 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3926,A/0.6074;Gene=TMEM61/NM_182532.2/1;CC=c.-366C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:193:22.16:22.16:0.00:1.00:1.00:0.00:60:40.0:0:0:16:135:8:NM_182532.1(TMEM61) c.-274-u92C>A,NM_182532.1(TMEM61) c.-274-u92C>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 55446664 rs2253467 G C 258 nt VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.391,C/0.609;Gene=TMEM61/NM_182532.2/1;CC=c.-75G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:52:0:0:68:2255:257.84:154.83:103.00:1.00:1.00:1.00:60:95.5:0:0:49:99:25:NM_182532.1(TMEM61) c.=,NM_182532.1(TMEM61) c.=:0.61,0.61:0.691853,0.691853 1 55446671 rs2253466 C T 256 nt VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.3914,T/0.6086;PC=0.001;Gene=TMEM61/NM_182532.2/1;CC=c.-68C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:72:54:0:0:1,71:8,2231:0.08,256.35:0.00,147.81:0.08,108.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.0,96.3:0,0:0,0:13,52:138,95:0,24:NM_182532.1(TMEM61) c.=,NM_182532.1(TMEM61) c.=:0.61,0.61:0.691853,0.691853 1 55446697 rs2253465 G A 325 nt VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.3916,A/0.6084,T/.;Gene=TMEM61/NM_182532.2/1;CC=c.-42G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:63:0:0:90:2825:325.17:171.69:153.47:1.00:1.00:1.00:60:83.2:0:0:58:87:27:NM_182532.1(TMEM61) c.=,NM_182532.1(TMEM61) c.=:0.61,0.61:0.689618,0.689618 1 55446754 . G . . NT END=55451769;NT GT ./. 1 55451483 rs2500323 C T 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3912,T/0.6088;PC=0.012;Gene=TMEM61/NM_182532.2/1;CC=c.16-287C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:52.2:0:0:70:79:45:NM_182532.1(TMEM61) c.16-287C>T,NM_182532.1(TMEM61) c.16-287C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 55451564 rs2500324 C T 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3912,T/0.6088;Gene=TMEM61/NM_182532.2/1;CC=c.16-206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:184:21.68:21.68:0.00:1.00:1.00:0.00:60:49.3:0:0:37:114:34:NM_182532.1(TMEM61) c.16-206C>T,NM_182532.1(TMEM61) c.16-206C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 55452120 . G . . NT END=55457508;NT GT ./. 1 55457337 rs2500325 A G 63 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.2109,G/0.7891;PC=0.001;Gene=TMEM61/NM_182532.2/1;CC=c.366-172A>G;VC=Intron;DM=TMEM61/TMEM61 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A,G,T:23:23:0:0:1,21,1:11,550,11:0.00,62.98,0.37:0.00,62.98,0.37:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,54:9.0,38.8,176.0:0,0,0:0,0,0:13,61,36:137,90,101:0,22,0:NM_182532.1(TMEM61) c.366-172A>G,NM_182532.1(TMEM61) c.366-172A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 55457710 rs2500326 G A 459 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.2125,A/0.7875;Gene=TMEM61/NM_182532.2/1;CC=c.567G>A;ProtCh=p.A189=;VC=Silent;DM=TMEM61/TMEM61 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:122:83:0:0:121,1:4042,30:459.32,0.00:213.94,0.00:245.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.8,202.0:0,0:0,0:66,69:79,82:35,0:NM_182532.1(TMEM61) c.=,NM_182532.1(TMEM61) c.=:0.78,0.78:0.813548,0.813548 1 55457777 . A . . NT END=55464859;NT GT ./. 1 55457815 rs2495513 C T 307 nt VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.2125,T/0.7875;Gene=TMEM61/NM_182532.2/1;CC=c.*39C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:83:36:0:0:1,82:20,2703:0.00,307.13:0.00,86.47:0.00,220.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.0,53.7:0,0:0,0:110,102:41,46:0,30:NM_182532.1(TMEM61) c.=,NM_182532.1(TMEM61) c.=:0.78,0.78:0.813615,0.813615 1 55464743 rs2500340 T C 150 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.406,C/0.594;Gene=BSND/NM_057176.2/1;CC=c.-117T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C,T:43:43:0:0:42,1:1319,9:150.28,0.00:146.36,0.00:3.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.0,119.0:0,0:0,0:37,40:112,75:25,0:NM_057176.2(BSND) c.-117T>C,NM_057176.2(BSND) c.-117T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 55464790 rs2500341 C G 302 nt VT=SNV;PN=T;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.405,G/0.595;Gene=BSND/NM_057176.2/1;CC=c.-70C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:79:0:0:80:2644:302.47:255.24:47.22:1.00:1.00:1.00:60:54.5:0:0:45:102:27:NM_057176.2(BSND) c.-70C>G,NM_057176.2(BSND) c.-70C>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 55465037 . G . . NT END=55470694;NT GT ./. 1 55470790 . G . . NT END=55472669;NT GT ./. 1 55472946 . G . . NT END=55473886;NT GT ./. 1 55473008 rs548152750 T G 11 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.9479,G/0.05212;Gene=BSND/NM_057176.2/1;CC=c.548+63T>G;VC=Intron;DM=BSND/Barttin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G,T:72:27:0:0:1,12,59:12,195,1519:-0.15,11.40,0.00:0.08,-1.66,0.00:-0.23,13.06,0.00:0.00,1.00,0.00:0.00,0.97,0.00:0.00,1.00,0.00:60,60,60:48.0,128.3,28.2:0,0,0:0,0,0:126,50,125:25,100,22:0,19,16:NM_057176.2(BSND) c.548+63T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 55473026 . T G 9 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;Gene=BSND/NM_057176.2/1;CC=c.548+81T>G;VC=Intron;DM=BSND/Barttin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:G,T:55:19:0:0:10,45:155,1007:9.09,0.00:-1.43,0.00:10.52,0.00:0.99,0.00:0.95,0.00:1.00,0.00:60,60:130.2,54.2:0,0:0,0:44,120:105,29:14,25:NM_057176.2(BSND) c.548+81T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 55473043 rs6687801 G A 98 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5607,A/0.4393;Gene=BSND/NM_057176.2/1;CC=c.548+98G>A;VC=Intron;DM=BSND/Barttin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:8:0:0:30,14:961,410:98.43,0.00:8.42,0.00:90.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:110.5,35.1:0,0:0,0:100,45:49,102:26,29:NM_057176.2(BSND) c.548+98G>A,-:0.4,-:NOT_FOUND,- 1 55474262 rs33938617 G A 160 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=in-clinvar;PAF=G/0.884,A/0.116;Gene=BSND/NM_057176.2/1;CC=c.924G>A;ProtCh=p.P308=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:122:69:0:0:51,71:1719,2249:160.24,0.00:50.44,0.00:109.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.3,8.0:0,0:0,0:56,69:83,80:36,34:NM_057176.2(BSND) c.924G>A (p.(=)),-:0.14,-:0.199677,- 1 55474302 . G . . NT END=55505510;NT GT ./. 1 55474325 rs6682884 A C 106 nt VT=SNV;PN=T;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.6376,C/0.3624,T/.;Gene=BSND/NM_057176.2/1;CC=c.*24A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:91:42:0:0:53,37,1:1736,1144,11:0.00,105.58,-0.12:0.00,27.59,-0.08:0.00,77.99,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.7,62.7,98.0:0,0,1:0,0,0:102,90,63:48,53,79:29,25,0:-,NM_057176.2(BSND) c.*24A>C:-,0.37:-,0.446486 1 55474476 rs4339899 C G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5701,G/0.4299 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,G:11:0:0:0:7,4:194,112:0.00,9.98:0.00,0.00:0.00,9.98:0.00,0.82:0.00,0.00:0.00,0.82:60,60:11.3,34.5:0,0:0,0:121,122:30,27:14,14:-,chr1 g.55474475C>G (intergenic):-,0.4:-,NOT_FOUND 1 55505718 . G . . NT END=55509515;NT GT ./. 1 55505732 rs2495482 A G 267 nt VT=SNV;PN=G;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.09145,G/0.9085;Gene=PCSK9/NM_174936.3/1;CC=c.207+15A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:73:23:0:0:73:2326:267.16:53.99:213.16:1.00:1.00:1.00:60:39.8:0:0:92:56:30:NM_174936.3(PCSK9) c.207+15A>G,NM_174936.3(PCSK9) c.207+15A>G:0.91,0.91:0.91164,0.91164 1 55509355 rs2495480 C T 76 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.09385,T/0.9062;Gene=PCSK9/NM_174936.3/1;CC=c.208-161C>T;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G,T:24:24:0:0:1,23:11,658:0.38,76.31:0.38,76.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.0,43.2:0,0:0,0:33,41:107,108:0,31:NM_174936.3(PCSK9) c.208-161C>T,NM_174936.3(PCSK9) c.208-161C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 55509708 . G . . NT END=55512195;NT GT ./. 1 55512320 . G . . NT END=55517950;NT GT ./. 1 55512549 rs499718 T C 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2732,C/0.7268;Gene=PCSK9/NM_174936.3/1;CC=c.523+230T>C;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:261:30.77:0.00:30.77:1.00:0.00:1.00:60:46.0:0:0:84:67:31:NM_174936.3(PCSK9) c.523+230T>C,NM_174936.3(PCSK9) c.523+230T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 55517861 rs613855 C G 139 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.5112,G/0.4888;Gene=PCSK9/NM_174936.3/1;CC=c.524-90C>G;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:G:40:38:0:0:40:1197:138.62:113.57:25.05:1.00:1.00:1.00:60:74.0:0:0:39:108:28:NM_174936.3(PCSK9) c.524-90C>G,NM_174936.3(PCSK9) c.524-90C>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 55517883 rs624612 C G 189 nt VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.5787,G/0.4213;Gene=PCSK9/NM_174936.3/1;CC=c.524-68C>G;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:51:46:0:0:51:1651:189.32:145.82:43.50:1.00:1.00:1.00:60:68.2:0:0:36:112:25:NM_174936.3(PCSK9) c.524-68C>G,NM_174936.3(PCSK9) c.524-68C>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 55518085 . G . . NT END=55518322;NT GT ./. 1 55518166 rs625619 G A 345 nt VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.4507,A/0.5493,T/.;PC=0.001;Gene=PCSK9/NM_174936.3/1;CC=c.657+82G>A;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:95:48:0:0:95:3000:345.10:155.05:190.05:1.00:1.00:1.00:60:41.0:0:0:96:53:33:NM_174936.3(PCSK9) c.657+82G>A,NM_174936.3(PCSK9) c.657+82G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 55518190 rs45597632 AC A 254 rn VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2143;Gene=PCSK9/NM_174936.3/1;CC=c.657+114delC;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AC,A:82:42:0:79:7,75:193,2288:0.00,254.31:0.00,126.43:0.00,127.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.9,34.4:0,0:0,0:142,85:8,66:1,41:NM_174936.3(PCSK9) c.657+107delC,NM_174936.3(PCSK9) c.657+107delC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 55518465 . G . . NT END=55521665;NT GT ./. 1 55518528 rs494198 C A 306 nt VT=SNV;PN=G;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.3708,A/0.6292;Gene=PCSK9/NM_174936.3/1;CC=c.799+64C>A;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:87:32:0:0:85,1,1:2672,6,9:305.85,0.00,0.08:69.86,0.00,0.08:235.99,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,12.0,26.0:0,0,0:0,0,0:107,150,132:41,1,18:26,0,0:NM_174936.3(PCSK9) c.799+64C>A,NM_174936.3(PCSK9) c.799+64C>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 55518752 rs7552841 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.725,T/0.275;Gene=PCSK9/NM_174936.3/1;CC=c.799+288C>T;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,T:10:0:0:0:6,4:174,136:0.00,12.59:0.00,0.00:0.00,12.59:0.00,0.84:0.00,0.00:0.00,0.84:60,60:1.5,49.2:0,0:0,0:133,111:16,39:12,17:-,NM_174936.3(PCSK9) c.799+288C>T:-,0.29:-,NOT_FOUND 1 55521863 . G . . NT END=55523003;NT GT ./. 1 55521899 rs561021048 GGGGCGGA G 52 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=GGGGCGGA/0.007188,G/0.9928;DB;DBA=NA;PAF=GGGGCGGA/0.007188,G/0.9928;NP=48;Gene=PCSK9/NM_174936.3/1;CC=c.996+55_996+61delCGGAGGG;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGGCGGA,G:42:24:0:19:23,19:711,555:0.00,52.00:0.00,27.56:0.00,24.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.5,27.4:0,0:0,0:140,95:10,48:5,19:-,NM_174936.3(PCSK9) c.996+38_996+44delGGGCGGA:-,0.93:-,0.979222 1 55523033 rs509504 A G 310 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.01817,G/0.9818;PC=0.999;Gene=PCSK9/NM_174936.3/1;CC=c.1026A>G;ProtCh=p.Q342=;VC=Silent;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:70:0:0:82:2705:309.51:209.51:100.00:1.00:1.00:1.00:60:39.9:0:0:64:85:30:NM_174936.3(PCSK9) c.1026A>G (p.(=)),NM_174936.3(PCSK9) c.1026A>G (p.(=)):0.99,0.99:0.979702,0.979702 1 55523188 . G . . NT END=55523708;NT GT ./. 1 55523361 rs533375 A G 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1412,G/0.8588;Gene=PCSK9/NM_174936.3/1;CC=c.1180+174A>G;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:1:0:0:15:454:52.49:3.28:49.21:1.00:1.00:1.00:60:47.0:0:0:97:54:38:NM_174936.3(PCSK9) c.1180+174A>G,NM_174936.3(PCSK9) c.1180+174A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 55523483 rs534347 C T 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1412,T/0.8588;PC=0.994;Gene=PCSK9/NM_174936.3/1;CC=c.1181-226C>T;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;DM=PCSK9/Peptidase_S8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:5:0:0:10:254:30.09:14.82:15.27:1.00:1.00:1.00:60:83.4:0:0:94:53:24:NM_174936.3(PCSK9) c.1181-226C>T,NM_174936.3(PCSK9) c.1181-226C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 55523883 . G . . NT END=55524171;NT GT ./. 1 55523984 rs584626 C T 133 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.137,T/0.863;Gene=PCSK9/NM_174936.3/1;CC=c.1354+102C>T;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:17:0:0:36:1155:132.63:58.82:73.80:1.00:1.00:1.00:60:38.4:0:0:82:69:28:NM_174936.3(PCSK9) c.1354+102C>T,NM_174936.3(PCSK9) c.1354+102C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 55524116 rs585131 C T 250 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.1308,T/0.8692;Gene=PCSK9/NM_174936.3/1;CC=c.1355-56C>T;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:69:56:0:0:69:2170:249.83:177.66:72.16:1.00:1.00:1.00:60:69.5:0:0:41:102:26:NM_174936.3(PCSK9) c.1355-56C>T,NM_174936.3(PCSK9) c.1355-56C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 55524197 rs540796 A G 490 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=A/0.1308,G/0.8692;PC=1.000;Gene=PCSK9/NM_174936.3/1;CC=c.1380A>G;ProtCh=p.V460=;VC=Silent;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:132:104:0:0:1,130,1:12,4293,10:0.13,490.27,0.08:0.13,301.91,0.00:0.00,188.36,0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:58.0,79.4,108.0:0,0,0:0,0,0:65,52,46:86,94,105:0,28,0:NM_174936.3(PCSK9) c.1380A>G (p.(=)),NM_174936.3(PCSK9) c.1380A>G (p.(=)):0.86,0.86:0.817776,0.817776 1 55524237 rs562556 G A 555 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=153;DB;DBA=NA;PAF=G/0.131,A/0.869;Gene=PCSK9/NM_174936.3/1;CC=c.1420G>A;ProtCh=p.V474I;VC=Missense;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:153:118:0:0:152,1:4835,11:555.18,0.09:310.76,0.09:244.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.8,119.0:0,0:0,0:77,65:72,79:31,0:NM_174936.3(PCSK9) c.1420G>A (p.Val474Ile),NM_174936.3(PCSK9) c.1420G>A (p.Val474Ile):0.85,0.85:0.817776,0.817776 1 55524321 . G . . NT END=55525158;NT GT ./. 1 55524339 rs56215417 CGTGTGTGTGTGTGT C 81 idl,nt VT=DEL;SST=Single;DP=117;DB;DBA=NA;PAF=CGTGTGTGTGTGTGT/0.08846,C/0.9115;DB;DBA=NA;PAF=CGTGTGTGTGTGTGT/0.08846,C/0.9115;NP=62;PC=0.005;Gene=PCSK9/NM_174936.3/1;CC=c.1503+58_1503+71delGTGTGTGTGTGTGT;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGTGTGTGTGTGTGT,C:105:76:0:44:73,32:2250,1304:0.00,81.04:0.00,38.59:0.00,42.45:0.00,1.00:0.00,1.00:0.00,1.00:60,70:36.4,52.0:0,12:0,0:116,63:30,81:13,17:-,NM_174936.3(PCSK9) c.1503+20_1503+33delGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 55524373 rs56295417 T C 15 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=7;Gene=PCSK9/NM_174936.3/1;CC=c.1503+53T>C;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,C,T:79:38:0:0:1,10,68:12,232,2226:-0.19,15.19,0.00:-0.13,2.65,0.00:-0.06,12.54,0.00:0.00,0.98,0.00:0.00,0.97,0.00:0.00,1.00,0.00:60,60,70:192.0,75.4,36.5:0,0,18:0,0,0:41,148,74:86,3,71:0,2,27:NM_174936.3(PCSK9) c.1503+53T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 55524387 rs563641 T C 241 nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=in-clinvar;PAF=T/0.1314,C/0.8686;PC=0.008;Gene=PCSK9/NM_174936.3/1;CC=c.1503+67T>C;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:73:26:0:0:72,1:2094,11:241.45,0.00:55.65,0.00:185.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:39.5,0.0:0,0:0,0:84,109:63,42:26,0:NM_174936.3(PCSK9) c.1503+67T>C,NM_174936.3(PCSK9) c.1503+67T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 55524601 rs565436 G A 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2408,A/0.7592;Gene=PCSK9/NM_174936.3/1;CC=c.1503+281G>A;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:360:41.25:0.00:41.25:1.00:0.00:1.00:60:43.7:0:0:85:65:39:NM_174936.3(PCSK9) c.1503+281G>A,NM_174936.3(PCSK9) c.1503+281G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 55525337 . G . . NT END=55527047;NT GT ./. 1 55525400 rs483462 G A 161 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.3257,A/0.6743;Gene=PCSK9/NM_174936.3/1;CC=c.1681+64G>A;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:6:0:0:47:1384:160.68:11.53:149.15:1.00:1.00:1.00:60:38.7:0:0:103:48:38:NM_174936.3(PCSK9) c.1681+64G>A,NM_174936.3(PCSK9) c.1681+64G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 55527230 . G . . NT END=55529041;NT GT ./. 1 55527323 rs630431 G A 147 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.3255,A/0.6745;Gene=PCSK9/NM_174936.3/1;CC=c.1863+94G>A;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:6:0:0:42:1269:146.91:13.17:133.74:1.00:1.00:1.00:60:36.4:0:0:95:56:28:NM_174936.3(PCSK9) c.1863+94G>A,NM_174936.3(PCSK9) c.1863+94G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 55527479 rs631220 A G 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1388,G/0.8612;Gene=PCSK9/NM_174936.3/1;CC=c.1863+250A>G;VC=Intron;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:261:29.91:0.00:29.91:1.00:0.00:1.00:60:47.8:0:0:132:19:5:NM_174936.3(PCSK9) c.1863+250A>G,NM_174936.3(PCSK9) c.1863+250A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 55529187 rs505151 G A 516 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=136;DB;DBA=in-clinvar;PAF=G/0.101,A/0.899;Gene=PCSK9/NM_174936.3/1;CC=c.2009G>A;ProtCh=p.G670E;VC=Missense;Gene=PCSK9/NR_110451.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:136:83:0:0:135,1:4532,11:515.62,0.00:213.91,0.00:301.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,156.0:0,0:0,0:74,51:68,95:39,0:NM_174936.3(PCSK9) c.2009G>A (p.Gly670Glu),NM_174936.3(PCSK9) c.2009G>A (p.Gly670Glu):0.9,0.9:0.889436,0.889436 1 55529258 . C . . NT END=55534717;NT GT ./. 1 55534781 . C . . NT END=55536798;NT GT ./. 1 55537164 . C . . NT END=55537486;NT GT ./. 1 55537598 . C . . NT END=55537989;NT GT ./. 1 55538077 . C . . NT END=55538458;NT GT ./. 1 55538385 rs654674 T C 118 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.09125,C/0.9087;Gene=USP24/NM_015306.2/1;CC=c.7602+74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:32:0:0:33:1024:118.07:109.13:8.94:1.00:1.00:1.00:60:42.0:0:0:40:111:23:NM_015306.2(USP24) c.7602+74A>G,NM_015306.2(USP24) c.7602+74A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 55538535 . C . . NT END=55539500;NT GT ./. 1 55539580 . C . . NT END=55541129;NT GT ./. 1 55541174 rs487230 A G 184 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.3077,G/0.6923;PC=1.000;Gene=USP24/NM_015306.2/1;CC=c.7403T>C;ProtCh=p.V2468A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:24:0:0:48:1613:184.14:62.10:122.03:1.00:1.00:1.00:60:40.0:0:0:76:72:24:NM_015306.2(USP24) c.7403T>C (p.Val2468Ala),NM_015306.2(USP24) c.7403T>C (p.Val2468Ala):0.7,0.7:0.640088,0.640088 1 55541197 . C . . NT END=55542907;NT GT ./. 1 55541338 rs141765069 ACACCACCAC A 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=21;PC=0.001;Gene=USP24/NM_015306.2/1;CC=c.7381-151_7381-143delGTGGTGGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:ACACCACCAC,A:4:0:0:5:1,3:31,87:0.00,9.15:0.00,0.00:0.00,9.15:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,3.3:0,0:0,0:139,64:1,84:0,31:-,NM_015306.2(USP24) c.7381-151_7381-143delGTGGTGGTG:-,NOT_FOUND:-,NOT_FOUND 1 55541348 rs56717778 C A 12 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.005;Gene=USP24/NM_015306.2/1;CC=c.7381-152G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,C:5:0:0:0:4,1:111,10:11.96,0.00:0.00,0.00:11.96,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:2.5,114.0:4,1:0,0:92,76:57,74:31,0:NM_015306.2(USP24) c.7381-152G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 55542974 . C . . NT END=55544210;NT GT ./. 1 55544325 . C . . NT END=55545210;NT GT ./. 1 55545333 . C . . NT END=55546994;NT GT ./. 1 55545515 rs550336 C G 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.1973,G/0.8027;PC=0.884;Gene=USP24/NM_015306.2/1;CC=c.7079-183G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:0:0:0:15:466:53.73:0.00:53.73:1.00:0.00:1.00:60:55.0:0:0:94:57:37:NM_015306.2(USP24) c.7079-183G>C,NM_015306.2(USP24) c.7079-183G>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 55546895 rs683880 T C 64 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3085,C/0.6915;Gene=USP24/NM_015306.2/1;CC=c.7078+100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:559:63.97:61.98:1.99:1.00:1.00:1.00:60:43.9:0:0:28:122:25:NM_015306.2(USP24) c.7078+100A>G,NM_015306.2(USP24) c.7078+100A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 55547098 . C . . NT END=55548944;NT GT ./. 1 55549038 . C . . NT END=55549444;NT GT ./. 1 55549562 . C . . NT END=55551614;NT GT ./. 1 55551712 . C . . NT END=55555299;NT GT ./. 1 55551718 rs11583974 G A 98 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.9866,A/0.01338,C/.;Gene=USP24/NM_015306.2/1;CC=c.6669-7C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:23:0:0:30,22:992,726:98.14,0.00:33.14,0.00:65.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,13.7:0,0:0,0:107,101:41,50:22,23:NM_015306.2(USP24) c.6669-7C>T,-:0.02,-:0.031858,- 1 55555285 rs548852 G A 203 nt VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.3087,A/0.6913;PC=0.160;Gene=USP24/NM_015306.2/1;CC=c.6668+15C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A,T:55:47:0:0:54,1:1775,12:202.82,0.25:141.34,0.00:61.49,0.25:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,115.0:0,0:0,0:47,11:98,138:24,0:NM_015306.2(USP24) c.6668+15C>T,NM_015306.2(USP24) c.6668+15C>T:0.7,0.7:0.636014,0.636014 1 55555414 . C . . NT END=55557695;NT GT ./. 1 55557540 rs667353 T C 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4397,C/0.5603;Gene=USP24/NM_015306.2/1;CC=c.6554+156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:221:25.44:25.44:0.00:1.00:1.00:0.00:60:48.0:0:0:36:115:27:NM_015306.2(USP24) c.6554+156A>G,NM_015306.2(USP24) c.6554+156A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 55557800 . C . . NT END=55558493;NT GT ./. 1 55557859 rs34673217 A ATT 55 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.09125,ATT/0.9087;NP=710;Gene=USP24/NM_015306.2/1;CC=c.6451-61_6451-60insAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,ATT:17:5:17:0:1,16:34,518:0.00,54.65:0.00,6.72:0.00,47.93:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,47.3:0,1:0,0:144,106:1,44:0,26:NM_015306.2(USP24) c.6451-61_6451-60insAA,NM_015306.2(USP24) c.6451-61_6451-60insAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 55557864 rs3736992 C T 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3085,T/0.6915;Gene=USP24/NM_015306.2/1;CC=c.6451-65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C,T:17:3:0:0:1,16:5,526:0.00,59.11:0.00,6.90:0.00,52.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:188.0,37.8:0,0:0,0:39,106:112,45:0,28:NM_015306.2(USP24) c.6451-65G>A,NM_015306.2(USP24) c.6451-65G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 55557982 rs679941 T A 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=USP24/NM_015306.2/1;CC=c.6451-183A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:233:26.64:0.00:26.64:1.00:0.00:1.00:60:40.9:0:0:71:80:33:NM_015306.2(USP24) c.6451-183A>T,NM_015306.2(USP24) c.6451-183A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 55558590 . C . . NT END=55559609;NT GT ./. 1 55558661 rs585203 A G 49 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3077,G/0.6923;PC=0.001;Gene=USP24/NM_015306.2/1;CC=c.6355-72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C,G:16:2:0:0:1,15:10,427:0.42,49.34:0.00,2.38:0.42,46.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:138.0,46.7:0,0:0,0:43,69:108,81:0,43:NM_015306.2(USP24) c.6355-72T>C,NM_015306.2(USP24) c.6355-72T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 55559761 . C . . NT END=55560927;NT GT ./. 1 55560796 rs503495 T C 125 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2322,C/0.7678,G/.;Gene=USP24/NM_015306.2/1;CC=c.6203+132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:33:0:0:33:1088:124.52:122.53:1.99:1.00:1.00:1.00:60:39.0:0:0:60:91:32:NM_015306.2(USP24) c.6203+132A>G,NM_015306.2(USP24) c.6203+132A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 55561070 . C . . NT END=55562170;NT GT ./. 1 55562125 rs580485 G T 216 nt VT=SNV;PN=C;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.09125,T/0.9087;Gene=USP24/NM_015306.2/1;CC=c.6061+46C>A;VC=Intron;DM=USP24/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:54:0:0:56:1891:215.79:194.76:21.02:1.00:1.00:1.00:60:41.8:0:0:47:102:28:NM_015306.2(USP24) c.6061+46C>A,NM_015306.2(USP24) c.6061+46C>A:0.9,0.9:0.845161,0.845161 1 55562296 . C . . NT END=55562624;NT GT ./. 1 55562846 . C . . NT END=55563270;NT GT ./. 1 55563391 . C . . NT END=55563615;NT GT ./. 1 55563758 . C . . NT END=55564148;NT GT ./. 1 55564232 . C . . NT END=55565443;NT GT ./. 1 55565543 . C . . NT END=55566511;NT GT ./. 1 55566411 rs67540253 TTAGTC T 90 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=TTAGTC/0.231,T/0.769;DB;DBA=NA;PAF=TTAGTC/0.231,T/0.769;NP=1570;PC=0.001;Gene=USP24/NM_015306.2/1;CC=c.5271+96_5271+100delGACTA;VC=Intron;DM=USP24/UCH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:25:0:25:25:783:90.20:82.60:7.60:1.00:1.00:1.00:70:4.4:0:0:82:68:31:NM_015306.2(USP24) c.5271+96_5271+100delGACTA,NM_015306.2(USP24) c.5271+96_5271+100delGACTA:0.78,0.78:NOT_FOUND,NOT_FOUND 1 55566638 . C . . NT END=55567256;NT GT ./. 1 55567143 rs1165282 T C 98 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.09065,C/0.9093;Gene=USP24/NM_015306.2/1;CC=c.5145+114A>G;VC=Intron;DM=USP24/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:25:0:0:26:852:97.60:91.88:5.72:1.00:1.00:1.00:60:45.3:0:0:54:95:30:NM_015306.2(USP24) c.5145+114A>G,NM_015306.2(USP24) c.5145+114A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 55567377 . C . . NT END=55569548;NT GT ./. 1 55567410 rs615652 A G 262 nt VT=SNV;PN=G;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.09565,G/0.9044;PC=0.001;Gene=USP24/NM_015306.2/1;CC=c.5026-34T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C,G,T:72:24:0:0:1,70,1:25,2299,8:1.15,262.36,0.08:0.00,62.14,0.00:1.15,200.22,0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:193.0,41.8,43.0:0,0,0:0,0,0:107,103,135:44,47,16:0,22,0:NM_015306.2(USP24) c.5026-34T>C,NM_015306.2(USP24) c.5026-34T>C:0.9,0.9:0.853619,0.853619 1 55569694 . C . . NT END=55571818;NT GT ./. 1 55571937 . C . . NT END=55572911;NT GT ./. 1 55572867 rs594226 G A 224 nt VT=SNV;PN=C;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.3081,A/0.6919;PC=0.005;Gene=USP24/NM_015306.2/1;CC=c.4762+45C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A,C,G:60:58:0:0:58,1,1:1990,12,25:224.35,0.23,0.00:208.85,-0.01,0.00:15.50,0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.7,53.0,79.0:0,0,0:0,0,0:44,20,37:107,131,113:24,0,0:NM_015306.2(USP24) c.4762+45C>T,NM_015306.2(USP24) c.4762+45C>T:0.7,0.7:0.640301,0.640301 1 55573104 . C . . NT END=55575857;NT GT ./. 1 55573292 rs488522 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9465,A/0.05351;Gene=USP24/NM_015306.2/1;CC=c.4571-189C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:6,11:202,352:18.27,0.00:0.00,0.00:18.27,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:37.0,12.8:0,0:0,0:94,93:56,57:14,30:NM_015306.2(USP24) c.4571-189C>T,-:0.05,-:NOT_FOUND,- 1 55575670 rs534741 A C 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3075,C/0.6925;PC=0.001;Gene=USP24/NM_015306.2/1;CC=c.4570+188T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:159:18.28:18.28:0.00:1.00:1.00:0.00:60:35.2:0:0:73:78:23:NM_015306.2(USP24) c.4570+188T>G,NM_015306.2(USP24) c.4570+188T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 55575920 . C . . NT END=55586268;NT GT ./. 1 55586430 . C . . NT END=55587108;NT GT ./. 1 55587180 . C . . NT END=55589119;NT GT ./. 1 55587394 rs641995 T C 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.09065,C/0.9093;Gene=USP24/NM_015306.2/1;CC=c.4277-215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:175:19.88:0.00:19.88:1.00:0.00:1.00:60:55.2:0:0:91:58:20:NM_015306.2(USP24) c.4277-215A>G,NM_015306.2(USP24) c.4277-215A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 55589276 . C . . NT END=55590141;NT GT ./. 1 55590302 . C . . NT END=55590992;NT GT ./. 1 55590828 rs502793 G A 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2318,A/0.7682;Gene=USP24/NM_015306.2/1;CC=c.3960+165C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:154:18.21:18.21:0.00:1.00:1.00:0.00:60:81.8:0:0:23:127:6:NM_015306.2(USP24) c.3960+165C>T,NM_015306.2(USP24) c.3960+165C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 1 55591222 . C . . NT END=55591335;NT GT ./. 1 55591432 . C . . NT END=55595149;NT GT ./. 1 55595248 . C . . NT END=55598217;NT GT ./. 1 55598374 . C . . NT END=55599742;NT GT ./. 1 55599837 . C . . NT END=55600000;NT GT ./. 1 55600087 . C . . NT END=55603187;NT GT ./. 1 55603362 . C . . NT END=55603478;NT GT ./. 1 55603578 . C . . NT END=55604280;NT GT ./. 1 55604392 . C . . NT END=55604616;NT GT ./. 1 55604684 . C . . NT END=55607288;NT GT ./. 1 55604692 . TA T 7 idl,rn VT=DEL;SST=Single;DP=33;NP=22;PC=0.001;Gene=USP24/NM_015306.2/1;CC=c.2751-10delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:TA,I,T:32:17:2:4:27,2,3:831,67,132:0.00,4.49,7.09:0.00,3.70,-0.37:0.00,0.79,7.47:0.00,0.00,0.41:0.00,0.00,0.70:0.00,0.00,0.83:60,60,60:20.7,0.0,12.0:0,0,1:0,0,0:96,69,84:48,39,66:33,34,10:-,NM_015306.2(USP24) c.2751-10delT:-,NOT_FOUND:-,NOT_FOUND 1 55607405 . C . . NT END=55608414;NT GT ./. 1 55608469 . C . . NT END=55608651;NT GT ./. 1 55608793 . C . . NT END=55609799;NT GT ./. 1 55609877 . C . . NT END=55611670;NT GT ./. 1 55611783 . C . . NT END=55612601;NT GT ./. 1 55612734 . C . . NT END=55613321;NT GT ./. 1 55613472 . C . . NT END=55614135;NT GT ./. 1 55614036 rs57349841 CAT C 33 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CAT/0.222,C/0.778;DB;DBA=NA;PAF=CAT/0.222,C/0.778;NP=1029;Gene=USP24/NM_015306.2/1;CC=c.1968+98_1968+99delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:9:9:288:33.09:33.09:0.00:1.00:1.00:0.00:60:2.9:0:0:66:84:12:NM_015306.2(USP24) c.1968+98_1968+99delAT,NM_015306.2(USP24) c.1968+98_1968+99delAT:0.78,0.78:NOT_FOUND,NOT_FOUND 1 55614244 . C . . NT END=55617584;NT GT ./. 1 55617517 rs1165228 T G 160 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.09065,G/0.9093;PC=0.998;Gene=USP24/NM_015306.2/1;CC=c.1860+2026A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:G:44:41:0:0:44:1386:159.55:128.13:31.42:1.00:1.00:1.00:60:36.5:0:0:40:111:29:NM_015306.2(USP24) c.1860+2026A>C,NM_015306.2(USP24) c.1860+2026A>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 55617649 . C . . NT END=55619542;NT GT ./. 1 55619422 rs1165230 G A 70 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.2316,A/0.7684,C/.;Gene=USP24/NM_015306.2/1;CC=c.1860+121C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:22:0:0:22:598:70.11:68.22:1.89:1.00:1.00:1.00:60:40.3:0:0:30:119:21:NM_015306.2(USP24) c.1860+121C>T,NM_015306.2(USP24) c.1860+121C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 1 55619591 . C . . NT END=55619791;NT GT ./. 1 55619954 . C . . NT END=55620043;NT GT ./. 1 55620140 . C . . NT END=55620343;NT GT ./. 1 55620452 . C . . NT END=55622620;NT GT ./. 1 55622725 . C . . NT END=55622928;NT GT ./. 1 55623044 . C . . NT END=55624550;NT GT ./. 1 55624710 . C . . NT END=55625283;NT GT ./. 1 55625359 . C . . NT END=55627871;NT GT ./. 1 55627938 . C . . NT END=55631557;NT GT ./. 1 55631624 . C . . NT END=55632240;NT GT ./. 1 55631782 rs1759499 G T 37 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4451,T/0.5549;Gene=USP24/NM_015306.2/1;CC=c.862-159C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:325:37.27:0.00:37.27:1.00:0.00:1.00:60:33.8:0:0:91:59:28:NM_015306.2(USP24) c.862-159C>A,NM_015306.2(USP24) c.862-159C>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 55632277 . C . . NT END=55637228;NT GT ./. 1 55637352 . C . . NT END=55638049;NT GT ./. 1 55638075 rs1165222 G A 221 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.09285,A/0.9071;PC=0.997;Gene=USP24/NM_015306.2/1;CC=c.677C>T;ProtCh=p.T226I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:A:61:47:0:0:61:1919:220.88:129.79:91.09:1.00:1.00:1.00:60:36.5:0:0:72:68:33:NM_015306.2(USP24) c.677C>T (p.Thr226Ile),NM_015306.2(USP24) c.677C>T (p.Thr226Ile):0.9,0.9:0.850633,0.850633 1 55638194 . C . . NT END=55642048;NT GT ./. 1 55642117 . C . . NT END=55643639;NT GT ./. 1 55643806 . C . . NT END=55680462;NT GT ./. 1 55643837 rs397747057 TA T 192 nt VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=TA/0.09605,T/0.904;DB;DBA=NA;PAF=TA/0.09605,T/0.904;NP=929;Gene=USP24/NM_015306.2/1;CC=c.325-33delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:TA,T:58:20:0:55:3,55:87,1713:0.00,192.39:0.00,54.10:0.00,138.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,8.5:0,0:0,0:147,94:2,56:0,25:NM_015306.2(USP24) c.325-33delT,NM_015306.2(USP24) c.325-33delT:0.89,0.89:0.851858,0.851858 1 55680787 . G . . NT END=56962222;NT GT ./. 1 55711091 rs58028530 T TTGTGTG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;NP=4;PC=0.001;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:T,TTGTGTG:4:4:2:0:2,2:61,66:0.00,6.35:0.00,2.87:0.00,3.48:0.00,0.51:0.00,0.51:0.00,0.79:60,70:112.5,0.0:0,0:0,0:71,71:77,71:12,7:-,chr1 g.55711091_55711092insTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 55798394 rs58121092 A C 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9507,C/0.04932 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,C:8:6:0:0:4,4:99,141:0.00,13.62:0.00,10.44:0.00,3.17:0.00,0.87:0.00,0.73:0.00,0.51:60,60:23.5,142.5:0,0:0,0:55,24:88,126:8,16:-,chr1 g.55798393A>C (intergenic):-,0.06:-,NOT_FOUND 1 55798412 rs67311972 CTGTG C 12 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CTGTG/0.4377,C/0.5623;DB;DBA=NA;PAF=CTGTG/0.4377,C/0.5623;NP=138;PC=0.001;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CTGTG,C:6:7:0:7:2,4:70,185:0.00,12.10:0.00,9.13:0.00,2.97:0.00,0.87:0.00,0.99:0.00,0.96:60,60:70.0,94.5:0,2:0,0:112,20:32,130:3,11:-,chr1 g.55798413_55798416delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 55798447 rs572676221 T A 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,T:10:6:0:0:4,6:132,194:12.19,0.00:4.65,0.00:7.53,0.00:0.84,0.00:0.94,0.00:0.96,0.00:60,60:156.5,14.7:0,0:0,0:75,69:75,80:23,36:chr1 g.55798446T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 55798449 rs58146612 T A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,T:10:6:0:0:4,6:141,203:13.09,0.00:4.65,0.00:8.43,0.00:0.84,0.00:0.94,0.00:0.96,0.00:60,60:156.5,14.7:0,0:0,0:77,71:73,78:23,36:chr1 g.55798448T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 55798451 rs59816709 T A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,T:10:6:0:0:4,6:138,178:12.80,0.00:4.67,0.00:8.13,0.00:0.84,0.00:0.94,0.00:0.96,0.00:60,60:156.5,14.7:0,0:0,0:79,73:71,76:23,36:chr1 g.55798450T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 55808506 rs5774227 CGGGG C 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=176;PC=0.001;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:4:4:108:12.70:9.47:3.23:1.00:1.00:1.00:60:3.2:0:0:67:53:14:chr1 g.55808507_55808510delGGGG (intergenic),chr1 g.55808507_55808510delGGGG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 55963199 rs11579098 C G 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8532,G/0.1468;PC=0.053 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,G:7:5:0:0:2,5:60,154:0.00,15.97:0.00,8.90:0.00,7.06:0.00,0.98:0.00,1.00:0.00,0.93:60,60:7.0,48.0:0,0:0,0:37,76:113,75:37,33:-,chr1 g.55963198C>G (intergenic):-,0.13:-,NOT_FOUND 1 56257641 rs138416919 AACACAC A 14 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3;PC=0.012;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:6:0:6:4:182:13.60:10.15:3.45:0.93:0.93:0.99:60:81.0:2:0:53:88:10:chr1 g.56257642_56257647delACACAC (intergenic),chr1 g.56257642_56257647delACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 56257683 rs56918877 C A 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=271;NP=3;NP=44;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:6:0:0:9:269:31.15:10.77:20.37:1.00:1.00:1.00:60:47.7:0:0:84:66:23:chr1 g.56257682C>A (intergenic),chr1 g.56257682C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 56364935 rs59824393 T C,TAC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7436,TAC/0.2564;NP=129;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:C,T,TAC:4:4:2:0:1,1,2:35,27,67:3.25,0.00,6.75:3.25,0.00,3.23:0.00,0.00,3.53:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.79:26,60,60:140.0,0.0,0.0:0,0,0:0,0,0:63,147,49:49,3,101:0,0,9:chr1 g.56364934T>C (intergenic),chr1 g.56364935_56364936insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 56408788 . ATG A 7 rn VT=DEL;SST=Single;DP=4;NP=19;PC=0.796;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:ATG,A:4:2:0:2:2,2:68,68:0.00,6.55:0.00,1.49:0.00,5.06:0.00,0.51:0.00,0.79:0.00,0.89:60,60:0.0,0.0:0,0:0,0:121,76:29,50:5,13:-,XR_110514.1(LOC100507652) n.48+1799_48+1800delCA:-,NOT_FOUND:-,NOT_FOUND 1 56604357 rs200188853 ATG A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=67;PC=0.005;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:ATG,A:6:5:0:4:3,3:70,131:0.00,9.41:0.00,3.22:0.00,6.20:0.00,0.69:0.00,0.93:0.00,0.95:60,60:28.7,0.0:0,1:0,0:75,40:36,67:31,28:-,chr1 g.56604358_56604359delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 56916877 rs56072614 TACACACAC T 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=178;PC=0.004;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:TACACACAC,T:4:1:0:3:1,3:25,88:0.00,9.25:0.00,3.65:0.00,5.60:0.00,0.85:0.00,0.83:0.00,0.99:60,60:65.0,50.3:0,0:0,0:2,77:147,74:0,17:-,chr1 g.56916878_56916885delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 56962349 . C . . NT END=56977647;NT GT ./. 1 56977819 rs3738570 G A 119 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.9125,A/0.08746;PC=1.000;Gene=PLPP3/NM_003713.4/1;CC=c.639C>T;ProtCh=p.Y213=;VC=Silent;DM=PLPP3/PAP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:79:41:0:0:38,41:1250,1342:119.37,0.00:37.13,0.00:82.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.2,4.9:0,0:0,0:94,86:46,56:20,22:NM_003713.4(PPAP2B) c.639C>T (p.(=)),-:0.07,-:0.092803,- 1 56977825 . C . . NT END=56989494;NT GT ./. 1 56989553 . C . . NT END=56989948;NT GT ./. 1 56989722 rs74594184 T C 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8231,C/0.1769;Gene=PLPP3/NM_003713.4/1;CC=c.576-170A>G;VC=Intron;DM=PLPP3/PAP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:17:9:0:0:9,1,7:253,14,219:24.80,0.53,0.00:15.20,-0.08,0.00:9.59,0.61,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:47.4,34.0,2.7:0,0,0:0,0,0:65,16,94:86,135,56:53,0,34:NM_003713.4(PPAP2B) c.576-170A>G,-:0.15,-:NOT_FOUND,- 1 56990227 . C . . NT END=57002626;NT GT ./. 1 57002785 . C . . NT END=57044550;NT GT ./. 1 57044331 rs914830 C T 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6791,T/0.3209;PC=0.109;Gene=PLPP3/NM_003713.4/1;CC=c.139+220G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:14:0:0:7,7:242,214:0.00,20.52:0.00,20.52:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:8.3,32.3:0,0:0,0:28,37:123,113:25,15:-,NM_003713.4(PPAP2B) c.139+220G>A:-,0.37:-,NOT_FOUND 1 57044690 . G . . NT END=57111060;NT GT ./. 1 57084935 rs11206870 T C 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6657,C/0.3343;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,T:7:7:0:0:6,1:212,33:22.82,0.00:22.82,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:56.8,0.0:0,0:0,0:24,87:115,64:13,0:chr1 g.57084934T>C (intergenic),-:0.36,-:NOT_FOUND,- 1 57085030 rs563533875 C CT 8 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.735,CTT/0.265;DB;DBA=NA;PAF=C/0.735,CTT/0.265;DB;DBA=NA;PAF=C/0.735,CTT/0.265;NP=17;PC=0.874;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,CT,D:14:14:3:2:10,3,1:298,95,66:0.00,7.87,2.20:0.00,8.06,0.91:0.00,-0.19,1.29:0.00,0.55,0.00:0.00,0.92,0.00:0.00,0.60,0.00:60,60,60:30.5,23.7,46.0:1,0,1:0,0,0:70,55,58:78,94,92:37,8,45:-,chr1 g.57085030_57085031insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 57111155 . G . . NT END=57140053;NT GT ./. 1 57140196 . G . . NT END=57157066;NT GT ./. 1 57157161 . G . . NT END=57158030;NT GT ./. 1 57158176 . G . . NT END=57159437;NT GT ./. 1 57159526 . G . . NT END=57161607;NT GT ./. 1 57161833 . G . . NT END=57169643;NT GT ./. 1 57170149 . G . . NT END=57171764;NT GT ./. 1 57171892 . G . . NT END=57173147;NT GT ./. 1 57173387 . T . . NT END=57185343;NT GT ./. 1 57185340 rs41285924 T C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8982,C/0.1018;PC=0.004;Gene=C1orf168/NM_001004303.4/1;CC=c.*4A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:16:0:0:8,17:259,553:22.90,0.00:14.66,0.00:8.23,0.00:0.99,0.00:0.99,0.00:0.99,0.00:60,60:39.6,10.2:0,0:0,0:67,79:71,72:22,35:NM_001004303.4(C1orf168) c.*4A>G,-:0.11,-:0.156053,- 1 57185366 . C . . NT END=57185694;NT GT ./. 1 57185729 . C . . NT END=57185845;NT GT ./. 1 57185818 rs857141 A G 174 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.1673,G/0.8327;Gene=C1orf168/NM_001004303.4/1;CC=c.2131+28T>C;VC=Intron;DM=C1orf168/hSH3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G:47:35:0:0:47:1516:173.90:121.87:52.03:1.00:1.00:1.00:60:49.7:0:0:54:97:35:NM_001004303.4(C1orf168) c.2131+28T>C,NM_001004303.4(C1orf168) c.2131+28T>C:0.79,0.79:0.776091,0.776091 1 57186003 . C . . NT END=57189260;NT GT ./. 1 57189355 . C . . NT END=57192169;NT GT ./. 1 57192257 . C . . NT END=57202759;NT GT ./. 1 57202821 . C . . NT END=57204297;NT GT ./. 1 57202872 rs6656021 A T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.8263,T/0.1737;Gene=C1orf168/NM_001004303.4/1;CC=c.1733-52T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:22:13:0:0:14,8:464,270:0.00,24.56:0.00,7.96:0.00,16.60:0.00,0.99:0.00,0.99:0.00,0.99:60,60:5.1,33.8:0,0:0,0:72,68:78,81:38,35:-,NM_001004303.4(C1orf168) c.1733-52T>A:-,0.19:-,0.253302 1 57204327 . C . . NT END=57206369;NT GT ./. 1 57206469 . C . . NT END=57207833;NT GT ./. 1 57207895 . C . . NT END=57209698;NT GT ./. 1 57209740 . C . . NT END=57209824;NT GT ./. 1 57209940 . C . . NT END=57216716;NT GT ./. 1 57216877 . C . . NT END=57219511;NT GT ./. 1 57216949 rs6688703 T C 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.8462,C/0.1538;Gene=C1orf168/NM_001004303.4/1;CC=c.1228-73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:15:0:0:16,21:564,663:53.04,0.00:11.52,0.00:41.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,8.1:0,0:0,0:96,113:48,38:17,19:NM_001004303.4(C1orf168) c.1228-73A>G,-:0.15,-:NOT_FOUND,- 1 57219609 . C . . NT END=57221568;NT GT ./. 1 57219631 rs397808828 G GA 33 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.1601,GA/0.8399,GAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.1601,GA/0.8399;NP=2715;PC=0.014;Gene=C1orf168/NM_001004303.4/1;CC=c.1131-24dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:28:14:11:0:17,11:501,357:0.00,32.82:0.00,12.31:0.00,20.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.1,2.8:1,0:0,0:115,105:36,41:29,29:-,NM_001004303.4(C1orf168) c.1131-24_1131-23insT:-,0.82:-,0.752918 1 57221553 rs1774808 G T 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1739,T/0.8261;PC=0.008;Gene=C1orf168/NM_001004303.4/1;CC=c.1130+16C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:17:0:0:13,10:441,333:0.00,31.23:0.00,17.47:0.00,13.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,71.5:0,0:0,0:49,33:96,96:23,20:-,NM_001004303.4(C1orf168) c.1130+16C>A:-,NOT_FOUND:-,0.040526 1 57221554 rs1738401 A G 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1737,G/0.8263;PC=0.024;Gene=C1orf168/NM_001004303.4/1;CC=c.1130+15T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:17:0:0:13,10:411,346:0.00,32.54:0.00,18.33:0.00,14.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,73.4:0,0:0,0:50,46:95,88:23,25:-,NM_001004303.4(C1orf168) c.1130+15T>C:-,NOT_FOUND:-,0.031375 1 57221601 . C . . NT END=57224388;NT GT ./. 1 57224254 rs6694629 A C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8415,C/0.1585;Gene=C1orf168/NM_001004303.4/1;CC=c.1098+135T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,C:8:8:0:0:4,4:133,133:0.00,12.80:0.00,12.80:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:0.0,33.2:0,0:0,0:58,47:93,102:48,43:-,NM_001004303.4(C1orf168) c.1098+135T>G:-,0.16:-,NOT_FOUND 1 57224424 . C . . NT END=57233501;NT GT ./. 1 57224460 rs857103 G C 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.1727,C/0.8273;Gene=C1orf168/NM_001004303.4/1;CC=c.1064-37C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:14:0:0:11,17:362,574:33.28,0.00:11.14,0.00:22.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,1.4:0,0:0,0:119,102:32,42:13,21:NM_001004303.4(C1orf168) c.1064-37C>G,-:0.8,-:0.727994,- 1 57233612 . C . . NT END=57252847;NT GT ./. 1 57252615 rs2275733 A T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7762,T/0.2238;PC=0.552;Gene=C1orf168/NM_001004303.4/1;CC=c.953+233T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,T:4:4:0:0:1,3:34,87:0.00,9.15:0.00,9.15:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,37.0:0,0:0,0:96,59:54,92:0,35:-,NM_001004303.4(C1orf168) c.953+233T>A:-,0.26:-,NOT_FOUND 1 57252882 . C . . NT END=57254645;NT GT ./. 1 57254808 . C . . NT END=57257728;NT GT ./. 1 57257668 rs2298129 C A 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.9137,A/0.08626;PC=0.001;Gene=C1orf168/NM_001004303.4/1;CC=c.757+61G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:49:46:0:0:21,28:679,900:63.39,0.00:48.82,0.00:14.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,10.1:0,0:0,0:33,40:106,110:24,32:NM_001004303.4(C1orf168) c.757+61G>T,-:0.09,-:NOT_FOUND,- 1 57258477 . C . . NT END=57284954;NT GT ./. 1 57284964 . T . . NT END=57320574;NT GT ./. 1 57298433 rs145365326 G GTA 9 sb,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=207;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:G,GTA:7:5:3:0:4,3:140,100:0.00,9.36:0.00,1.03:0.00,8.33:0.00,0.69:0.00,0.93:0.00,0.93:60,60:54.8,18.0:0,0:0,0:77,71:71,63:37,19:-,chr1 g.57298433_57298434insTA (intergenic):-,0.46:-,NOT_FOUND 1 57298435 rs10127808 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=167;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:6:4:0:0:3,3:97,105:9.32,0.00:8.34,0.00:0.98,0.00:0.73,0.00:0.51,0.00:0.51,0.00:60,60:62.7,18.0:0,3:0,0:109,75:42,59:15,19:chr1 g.57298434G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 57320652 . G . . NT END=57333281;NT GT ./. 1 57322976 rs71048450 T TACAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4762,TAC/0.5238,TACAC/.;DB;DBA=NA;PAF=T/0.4762,TAC/0.5238,TACAC/.,TACACAC/.;NP=1;NP=1;NP=2;NP=272;NP=29;PC=0.019;Gene=C8A/NM_000562.2/1;CC=c.77+2352_77+2353insCACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TACAC:3:4:3:0:1,2:33,101:0.00,6.85:0.00,3.43:0.00,3.43:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,11.0:0,1:0,0:136,69:15,71:0,19:-,NM_000562.2(C8A) c.77+2325_77+2326insACAC:-,NOT_FOUND:-,NOT_FOUND 1 57333376 . G . . NT END=57340621;NT GT ./. 1 57340381 rs1885002 A G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7883,G/0.2117;Gene=C8A/NM_000562.2/1;CC=c.172-241A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:12:12:0:0:3,9:74,276:0.00,29.02:0.00,29.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.3,43.0:0,0:0,0:73,25:78,126:6,15:-,NM_000562.2(C8A) c.172-241A>G:-,0.22:-,NOT_FOUND 1 57340727 rs652785 C A 84 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=77;DB;DBA=in-clinvar;PAF=C/0.6563,A/0.3437;Gene=C8A/NM_000562.2/1;CC=c.277C>A;ProtCh=p.Q93K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:77:42:0:0:29,48:928,1676:84.46,0.00:32.48,0.00:51.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,6.0:0,0:0,0:96,86:54,62:31,38:NM_000562.2(C8A) c.277C>A (p.Gln93Lys),-:0.33,-:0.320929,- 1 57340767 . G . . NT END=57341734;NT GT ./. 1 57340860 rs2269118 G A 53 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.758,A/0.242;PC=0.004;Gene=C8A/NM_000562.2/1;CC=c.316+94G>A;VC=Intron;DM=C8A/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:40:3:0:0:19,20,1:559,651,10:53.19,0.00,-0.00:3.01,0.00,-0.01:50.18,0.00,0.00:1.00,0.00,0.00:0.87,0.00,0.00:1.00,0.00,0.00:60,60,60:36.1,14.8,20.0:0,0,0:0,0,0:91,87,103:59,64,47:42,33,0:NM_000562.2(C8A) c.316+94G>A,-:0.24,-:NOT_FOUND,- 1 57341883 . G . . NT END=57347117;NT GT ./. 1 57347308 . G . . NT END=57349153;NT GT ./. 1 57348896 rs3835681 C CTGTGTG 10 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4922,CTG/0.2181,CTGTG/0.2897;DB;DBA=NA;PAF=C/0.4922,CTG/0.2181,CTGTG/0.2897;NP=11;NP=8;Gene=C8A/NM_000562.2/1;CC=c.655-234_655-233insTGTGTG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,CTGTGTG:5:7:6:0:2,3:69,193:0.00,9.65:0.00,8.02:0.00,1.62:0.00,0.67:0.00,0.95:0.00,0.78:60,60:0.0,55.7:0,3:0,0:68,60:83,90:63,8:-,NM_000562.2(C8A) c.655-258_655-257insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 57349140 . C CT 14 rn VT=INS;SST=Single;DP=63;NP=6;Gene=C8A/NM_000562.2/1;CC=c.655-4dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,CT,D:63:56:6:2:55,6,2:1724,198,64:0.00,14.15,3.59:0.00,13.34,3.78:0.00,0.81,-0.18:0.00,0.81,0.00:0.00,0.98,0.00:0.00,0.76,0.00:60,60,60:11.3,8.7,5.5:0,0,0:0,0,0:62,69,31:89,81,119:29,13,8:-,NM_000562.2(C8A) c.655-14_655-13insT:-,NOT_FOUND:-,NOT_FOUND 1 57349355 . G . . NT END=57351599;NT GT ./. 1 57349407 rs6694643 A T 61 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.7889,T/0.2111;PC=0.921;Gene=C8A/NM_000562.2/1;CC=c.855+53A>T;VC=Intron;DM=C8A/MACPF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:43:4:0:0:22,21:657,641:0.00,61.17:0.00,6.13:0.00,55.04:0.00,1.00:0.00,0.93:0.00,1.00:60,60:7.3,56.7:0,0:0,0:81,107:69,43:45,29:-,NM_000562.2(C8A) c.855+53A>T:-,0.22:-,NOT_FOUND 1 57349464 rs6697228 T C 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.7889,C/0.2111;PC=1.000;Gene=C8A/NM_000562.2/1;CC=c.855+110T>C;VC=Intron;DM=C8A/MACPF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:0:0:0:11,15:319,513:29.37,0.00:0.00,0.00:29.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:61.5,5.5:0,0:0,0:117,90:34,60:24,29:NM_000562.2(C8A) c.855+110T>C,-:0.22,-:NOT_FOUND,- 1 57351841 . G . . NT END=57372339;NT GT ./. 1 57372466 . G . . NT END=57373628;NT GT ./. 1 57372591 rs619545 C T 78 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1362,T/0.8638;Gene=C8A/NM_000562.2/1;CC=c.1222+126C>T;VC=Intron;DM=C8A/MACPF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:1:0:0:21:676:77.58:1.99:75.59:1.00:1.00:1.00:60:38.0:0:0:86:65:45:NM_000562.2(C8A) c.1222+126C>T,NM_000562.2(C8A) c.1222+126C>T:0.83,0.83:NOT_FOUND,NOT_FOUND 1 57373787 . G . . NT END=57378075;NT GT ./. 1 57377810 rs635833 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.08067,T/0.9193;Gene=C8A/NM_000562.2/1;CC=c.1381-266C>T;VC=Intron;DM=C8A/MACPF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:6:6:0:0:3,3:96,97:0.00,9.32:0.00,9.32:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:12.7,42.7:0,0:0,0:77,69:74,82:14,5:-,NM_000562.2(C8A) c.1381-266C>T:-,0.9:-,NOT_FOUND 1 57378299 . G . . NT END=57383237;NT GT ./. 1 57378413 rs623077 T C 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.08067,C/0.9193;Gene=C8A/NM_000562.2/1;CC=c.1603+115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:7,13:231,407:20.82,0.00:0.00,0.00:20.82,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:42.7,21.5:0,0:0,0:83,57:68,94:18,25:NM_000562.2(C8A) c.1603+115T>C,-:0.9,-:NOT_FOUND,- 1 57383390 . G . . NT END=57395076;NT GT ./. 1 57395232 . C . . NT END=57397482;NT GT ./. 1 57395251 rs605648 T C 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.1196,C/0.8804,G/.;Gene=C8B/NM_000066.3/0;CC=c.1622-20A>G;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.1466-20A>G;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.1436-20A>G;VC=Intron;DM=C8B/MACPF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:56:28:0:0:21,1,34:704,12,1114:64.52,-0.02,0.00:16.98,-0.10,0.00:47.55,0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.5,87.0,6.9:0,0,0:0,0,0:71,74,106:80,77,38:34,0,28:NM_000066.2(C8B) c.1622-20A>G,-:0.87,-:0.829694,- 1 57397552 . C . . NT END=57399007;NT GT ./. 1 57399162 . C . . NT END=57406521;NT GT ./. 1 57406392 rs6669836 T C 64 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6118,C/0.3882;Gene=C8B/NM_000066.3/0;CC=c.1398+130A>G;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.1242+130A>G;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.1212+130A>G;VC=Intron;DM=C8B/MACPF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:33:0:0:21,12:638,406:64.40,0.00:64.40,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.3,4.9:0,0:0,0:51,34:99,115:26,25:NM_000066.2(C8B) c.1398+130A>G,-:0.43,-:NOT_FOUND,- 1 57406686 . C . . NT END=57409368;NT GT ./. 1 57409498 . C . . NT END=57411493;NT GT ./. 1 57411735 . C . . NT END=57415227;NT GT ./. 1 57415426 . C . . NT END=57417720;NT GT ./. 1 57415594 rs661449 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3237,G/0.6763;PC=0.004;Gene=C8B/NM_000066.3/0;CC=c.667-169T>C;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.511-169T>C;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.481-169T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:8:0:0:0:3,5:101,159:0.00,15.99:0.00,0.00:0.00,15.99:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,36.8:0,0:0,0:143,113:7,37:6,30:-,NM_000066.2(C8B) c.667-169T>C:-,0.63:-,NOT_FOUND 1 57417592 rs1960384 C A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8371,A/0.1629;Gene=C8B/NM_000066.3/0;CC=c.666+129G>T;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.510+129G>T;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.480+129G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:29:0:0:10,19:329,601:29.56,0.00:29.56,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.9,2.8:0,0:0,0:43,37:108,114:30,25:NM_000066.2(C8B) c.666+129G>T,-:0.18,-:NOT_FOUND,- 1 57417633 rs138791380 G GGGATGTGTCCAAGGTCACACA 20 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.3528,GGGATGTGTCCAAGGTCACACA/0.6452,GTCACACA/0.001997;Gene=C8B/NM_000066.3/0;CC=c.666+87_666+88insTGTGTGACCTTGGACACATCC;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.510+87_510+88insTGTGTGACCTTGGACACATCC;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.480+87_480+88insTGTGTGACCTTGGACACATCC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:G,GGGATGTGTCCAAGGTCACACA:38:38:8:0:30,8:969,245:0.00,19.83:0.00,20.39:0.00,-0.56:0.00,0.97:0.00,0.97:0.00,0.88:60,60:6.5,23.2:0,0:0,0:65,55:86,95:44,19:-,NM_000066.2(C8B) c.666+87_666+88insTGTGTGACCTTGGACACATCC:-,0.61:-,NOT_FOUND 1 57417854 . C . . NT END=57420358;NT GT ./. 1 57420043 rs706483 T C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4553,C/0.5447;Gene=C8B/NM_000066.3/0;CC=c.533+316A>G;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.377+316A>G;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.347+316A>G;VC=Intron;DM=C8B/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:8:8:0:0:4,4:121,139:11.60,0.00:11.60,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:36.0,21.8:0,0:0,0:37,35:113,116:16,12:NM_000066.2(C8B) c.533+316A>G,-:0.51,-:NOT_FOUND,- 1 57420501 . C . . NT END=57422441;NT GT ./. 1 57422218 rs7541538 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3233,C/0.6767;Gene=C8B/NM_000066.3/0;CC=c.391+224A>G;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.235+224A>G;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.205+224A>G;VC=Intron;DM=C8B/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:8:8:0:0:6,2:185,67:19.39,0.00:19.39,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:56.3,14.5:0,0:0,0:74,57:76,93:6,25:NM_000066.2(C8B) c.391+224A>G,-:0.63,-:NOT_FOUND,- 1 57422484 rs1013579 C T 327 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.01358,T/0.9864;PC=0.998;Gene=C8B/NM_000066.3/0;CC=c.349G>A;ProtCh=p.G117R;VC=Missense;Gene=C8B/NM_001278543.1/0;CC=c.193G>A;ProtCh=p.G65R;VC=Missense;Gene=C8B/NM_001278544.1/1;CC=c.163G>A;ProtCh=p.G55R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:84:57:0:0:84:2871:327.13:163.04:164.08:1.00:1.00:1.00:60:40.5:0:0:80:63:31:NM_000066.2(C8B) c.349G>A (p.Gly117Arg),NM_000066.2(C8B) c.349G>A (p.Gly117Arg):0.98,0.98:0.97578,0.97578 1 57422584 . C . . NT END=57425201;NT GT ./. 1 57425331 . C . . NT END=57425692;NT GT ./. 1 57425850 . C . . NT END=57429444;NT GT ./. 1 57425888 rs139781264 AG A 81 nt VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=AG/0.905,A/0.09505;NP=860;PC=0.007;Gene=C8B/NM_000066.3/0;CC=c.93-40delC;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.-64-40delC;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.-223-40delC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:62:21:0:27:35,27:1161,870:0.00,81.45:0.00,13.04:0.00,68.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,4.4:0,0:0,0:106,100:45,50:30,29:-,NM_000066.2(C8B) c.93-40delC:-,0.11:-,0.125958 1 57429248 rs927213 A G 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.129,G/0.871;Gene=C8B/NM_000066.3/0;CC=c.92+2282T>C;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.-65+197T>C;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.-224+2282T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:4:4:0:0:2,2:64,66:0.00,6.35:0.00,6.35:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:17.0,142.5:0,0:0,0:51,54:99,96:44,5:-,NM_000066.2(C8B) c.92+2282T>C:-,0.85:-,NOT_FOUND 1 57429269 rs927212 T C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2099,C/0.7901;Gene=C8B/NM_000066.3/0;CC=c.92+2261A>G;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.-65+176A>G;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.-224+2261A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:C,T:5:5:0:0:3,2:106,38:10.59,0.00:10.59,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:118.0,17.0:0,0:0,0:70,72:81,78:11,44:NM_000066.2(C8B) c.92+2261A>G,-:0.48,-:NOT_FOUND,- 1 57429324 rs927210 A G 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4882,G/0.5118;Gene=C8B/NM_000066.3/0;CC=c.92+2206T>C;VC=Intron;Gene=C8B/NM_001278543.1/0;CC=c.-65+121T>C;VC=Intron;Gene=C8B/NM_001278544.1/1;CC=c.-224+2206T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G:9:8:0:0:3,6:91,193:0.00,19.67:0.00,20.15:0.00,-0.48:0.00,0.99:0.00,1.00:0.00,0.78:60,60:9.3,81.0:0,0:0,0:50,46:101,105:12,40:-,NM_000066.2(C8B) c.92+2206T>C:-,0.49:-,NOT_FOUND 1 57429667 . C . . NT END=57431529;NT GT ./. 1 57431814 . G . . NT END=57433202;NT GT ./. 1 57433095 rs1984266 A G 123 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.3988,G/0.6012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:32:0:0:34:1065:122.57:98.50:24.06:1.00:1.00:1.00:60:39.2:0:0:42:108:32:NM_000066.2(C8B) c.-67-u1407T>C,NM_000066.2(C8B) c.-67-u1407T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 57433214 . A . . NT END=57476367;NT GT ./. 1 57476464 . C . . NT END=57476817;NT GT ./. 1 57476946 . C . . NT END=57480555;NT GT ./. 1 57481105 . C . . NT END=57489203;NT GT ./. 1 57489313 . C . . NT END=57491653;NT GT ./. 1 57491717 . C . . NT END=57499058;NT GT ./. 1 57498844 rs144166270 T TACAC 9 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6248,TAC/.,TACAC/0.3752;DB;DBA=NA;PAF=NA;NP=8;NP=84;Gene=DAB1/NM_021080.3/1;CC=c.724-7129_724-7128insGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,T,TACAC:8:10:5:0:1,4,3:12,101,160:0.55,0.00,8.85:0.55,0.00,8.85:0.00,0.00,0.00:0.00,0.00,0.62:0.00,0.00,0.62:0.00,0.00,0.00:60,60,60:41.0,43.0,0.0:0,0,2:0,0,0:112,50,19:39,100,132:0,31,9:-,NM_021080.3(DAB1) c.724-7129_724-7128insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 57499107 . C . . NT END=57499195;NT GT ./. 1 57499247 . C . . NT END=57528556;NT GT ./. 1 57528617 . C . . NT END=57535032;NT GT ./. 1 57528772 rs1261611 A G 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1282,G/0.8718;Gene=DAB1/NM_021080.3/1;CC=c.664-156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:276:32.29:0.00:32.29:1.00:0.00:1.00:60:35.1:0:0:95:55:23:NM_021080.3(DAB1) c.664-156T>C,NM_021080.3(DAB1) c.664-156T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 57535099 . C . . NT END=57536695;NT GT ./. 1 57536582 rs17418461 T C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.9439,C/0.05611;Gene=DAB1/NM_021080.3/1;CC=c.597+114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:C,G,T:14:14:0:0:6,1,7:155,5,243:14.42,-0.08,0.00:14.54,-0.07,0.00:-0.12,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.62,0.00,0.00:60,60,60:46.0,87.0,5.1:0,0,0:0,0,0:73,98,42:77,52,108:33,0,15:NM_021080.3(DAB1) c.597+114A>G,-:0.05,-:NOT_FOUND,- 1 57536735 . C . . NT END=57537194;NT GT ./. 1 57537062 rs12754054 G A 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8836,A/0.1164;PC=0.010;Gene=DAB1/NM_021080.3/1;CC=c.558+133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:28:0:0:13,19:382,634:35.02,0.00:29.54,0.00:5.48,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:38.8,4.0:0,0:0,0:61,62:90,89:41,47:NM_021080.3(DAB1) c.558+133C>T,-:0.13,-:NOT_FOUND,- 1 57537315 . C . . NT END=57537955;NT GT ./. 1 57537652 rs6657073 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8836,T/0.1164;PC=0.890;Gene=DAB1/NM_021080.3/1;CC=c.438+304G>A;VC=Intron;DM=DAB1/PID;DM=DAB1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:7:5:0:0:4,3:130,101:0.00,9.46:0.00,6.19:0.00,3.27:0.00,0.69:0.00,0.93:0.00,0.73:60,60:17.0,49.7:0,0:0,0:35,52:111,98:13,14:-,NM_021080.3(DAB1) c.438+304G>A:-,0.13:-,NOT_FOUND 1 57537737 rs71800606 TAA T,TAAAA 9 idl,nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;DM=DAB1/PID;DM=DAB1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:TAA,TAAAA,T:9:12:5:4:3,3,3:66,162,127:0.00,8.96,8.86:0.00,8.96,8.86:0.00,0.00,0.00:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.00,0.00:60,60,60:31.7,25.3,61.7:0,2,1:0,0,0:128,77,38:22,74,112:9,35,12:NM_021080.3(DAB1) c.438+217_438+218delTT,NM_021080.3(DAB1) c.438+217T[4]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 57537755 rs12718424 C G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=131;PC=0.001;Gene=DAB1/NM_021080.3/1;CC=c.438+201G>C;VC=Intron;DM=DAB1/PID;DM=DAB1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,G:12:12:0:0:7,5:145,153:0.00,14.17:0.00,14.17:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:19.6,44.0:0,0:0,0:97,54:54,97:44,26:-,NM_021080.3(DAB1) c.438+201G>C:-,NOT_FOUND:-,NOT_FOUND 1 57538088 . C . . NT END=57602215;NT GT ./. 1 57538409 rs12759721 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8716,T/0.1284;Gene=DAB1/NM_021080.3/1;CC=c.307-322G>A;VC=Intron;DM=DAB1/PID;DM=DAB1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,T:4:0:0:0:2,2:48,66:0.00,6.36:0.00,0.00:0.00,6.36:0.00,0.51:0.00,0.00:0.00,0.51:60,60:29.0,33.0:0,0:0,0:73,93:77,57:70,1:-,NM_021080.3(DAB1) c.307-322G>A:-,0.14:-,NOT_FOUND 1 57602315 . C . . NT END=57610962;NT GT ./. 1 57602334 rs564665 G A 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8744,A/0.1256;PC=1.000;Gene=DAB1/NM_021080.3/1;CC=c.208-20C>T;VC=Intron;DM=DAB1/PID;DM=DAB1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:16:0:0:21,16:678,514:66.76,0.00:19.73,0.00:47.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.9,6.9:0,0:0,0:84,114:61,36:31,26:NM_021080.3(DAB1) c.208-20C>T,-:0.1,-:0.144856,- 1 57602383 rs563921 T C 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6068,C/0.3932;PC=0.335;Gene=DAB1/NM_021080.3/1;CC=c.208-69A>G;VC=Intron;DM=DAB1/PID;DM=DAB1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:8:0:0:15,9:520,269:52.28,0.00:10.94,0.00:41.34,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:60.9,7.7:0,0:0,0:106,108:44,42:23,17:NM_021080.3(DAB1) c.208-69A>G,-:0.35,-:NOT_FOUND,- 1 57611103 . C . . NT END=57756635;NT GT ./. 1 57693192 rs56868463 T G 10 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.982,G/0.01797;DB;DBA=NA;PAF=NA;NP=2;NP=21;NP=22;PC=0.023;Gene=DAB1/NM_021080.3/1;CC=c.67+63444A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:G,T:7:4:0:1:3,4:106,133:9.96,0.00:8.95,0.00:1.00,0.00:0.69,0.00:0.89,0.00:0.93,0.00:60,60:35.3,16.5:0,0:0,0:71,70:65,56:9,33:NM_021080.3(DAB1) c.67+63444A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 57704533 . TAC T 13 rn VT=DEL;SST=Single;DP=8;NP=9;Gene=DAB1/NM_021080.3/1;CC=c.67+52101_67+52102delGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:TAC,T:7:7:0:5:3,4:69,167:0.00,13.33:0.00,8.47:0.00,4.86:0.00,0.87:0.00,0.99:0.00,0.96:60,60:90.7,33.8:0,1:0,0:112,46:16,89:17,16:-,NM_021080.3(DAB1) c.67+52101_67+52102delGT:-,NOT_FOUND:-,NOT_FOUND 1 57756710 . A . . NT END=58881064;NT GT ./. 1 57818786 rs556397870 T TAC 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;NP=78;PC=0.046;Gene=DAB1/NM_021080.3/1;CC=c.-136-61949_-136-61948insGT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:T,TAC,D:6:5:3:1:2,3,1:39,97,33:0.00,9.66,2.85:0.00,6.60,1.42:0.00,3.06,1.43:0.00,0.73,0.00:0.00,0.96,0.00:0.00,0.51,0.00:60,60,60:48.0,4.0,0.0:1,0,0:0,0,0:96,43,86:55,99,65:48,10,0:-,NM_021080.3(DAB1) c.-136-61949_-136-61948insGT:-,NOT_FOUND:-,NOT_FOUND 1 58011770 rs3074816 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4079,C/0.5921;PC=0.082;Gene=DAB1/NM_021080.3/1;CC=c.-137+103494A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:135:15.41:5.92:9.49:1.00:1.00:1.00:60:92.8:0:0:82:58:51:NM_021080.3(DAB1) c.-137+103494A>G,NM_021080.3(DAB1) c.-137+103494A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 58011777 rs1880441 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.09605,G/0.904;Gene=DAB1/NM_021080.3/1;CC=c.-137+103487T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:137:15.61:5.97:9.64:1.00:1.00:1.00:60:95.5:0:0:84:56:46:NM_021080.3(DAB1) c.-137+103487T>C,NM_021080.3(DAB1) c.-137+103487T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 58056407 . AACACACAC A 8 rn VT=DEL;SST=Single;DP=4;NP=4;PC=0.117;Gene=DAB1/NM_021080.3/1;CC=c.-137+58849_-137+58856delGTGTGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:AACACACAC,A:4:3:0:3:1,3:23,79:0.00,8.35:0.00,5.60:0.00,2.75:0.00,0.85:0.00,0.99:0.00,0.95:60,70:10.0,26.3:0,0:0,0:57,60:41,91:0,36:-,NM_021080.3(DAB1) c.-137+58849_-137+58856delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 58513951 rs35112903 C A 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.7602,A/0.2398;PC=0.270;Gene=DAB1/NM_021080.3/1;CC=c.-374-164117G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:40:26:0:0:17,23:536,710:49.87,0.00:25.20,0.00:24.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,10.7:0,0:0,0:117,71:34,79:17,34:NM_021080.3(DAB1) c.-374-164117G>T,-:0.24,-:NOT_FOUND,- 1 58514090 rs17131774 A G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.7141,G/0.2859;PC=0.017;Gene=DAB1/NM_021080.3/1;CC=c.-374-164256T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:22:0:0:21,12:651,423:0.00,38.64:0.00,24.74:0.00,13.91:0.00,1.00:0.00,0.99:0.00,1.00:60,60:13.8,35.2:0,0:0,0:82,55:69,87:34,21:-,NM_021080.3(DAB1) c.-374-164256T>C:-,0.28:-,NOT_FOUND 1 58521721 rs67578681 CT C 40 idl,rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=131;PC=0.286;Gene=DAB1/NM_021080.3/1;CC=c.-374-171888delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:CT,I,C:18:21:2:16:4,2,12:118,64,514:0.00,5.11,40.30:0.00,5.13,40.47:0.00,-0.02,-0.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.83:60,60,60:51.8,72.5,25.5:0,0,4:0,0,0:89,49,34:62,101,116:56,13,23:-,NM_021080.3(DAB1) c.-374-171888delA:-,NOT_FOUND:-,NOT_FOUND 1 58779442 rs1924565 T G 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1693,G/0.8307;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:212:24.06:14.02:10.04:1.00:1.00:1.00:60:55.0:0:0:46:93:15:chr1 g.58779441T>G (intergenic),chr1 g.58779441T>G (intergenic):0.8,0.8:NOT_FOUND,NOT_FOUND 1 58779530 rs12078090 A T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=49 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:4:1:0:3:1,3:35,101:0.00,10.55:0.00,1.88:0.00,8.68:0.00,0.85:0.00,0.83:0.00,0.85:60,60:35.0,76.7:0,0:0,0:133,128:17,12:0,8:-,chr1 g.58779529A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 58880879 rs56131602 C T 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8912,T/0.1088 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:351:39.87:39.87:0.00:1.00:1.00:0.00:60:35.1:0:0:66:84:23:chr1 g.58880878C>T (intergenic),chr1 g.58880878C>T (intergenic):0.13,0.13:NOT_FOUND,NOT_FOUND 1 58881158 . C . . NT END=58934586;NT GT ./. 1 58934539 rs697591 T C 72 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.5413,C/0.4587 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:30:0:0:21,12:713,358:71.95,0.00:53.79,0.00:18.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.8,16.7:0,0:0,0:40,58:111,92:31,21:chr1 g.58934538T>C (intergenic),-:0.47,-:NOT_FOUND,- 1 58934546 rs822062 T C 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.5413,C/0.4587 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:31:0:0:23,13:741,434:74.81,0.00:54.50,0.00:20.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:92.1,24.2:0,0:0,0:34,51:117,99:23,18:chr1 g.58934545T>C (intergenic),-:0.47,-:NOT_FOUND,- 1 58934642 rs338240 G T 254 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.2262,T/0.7738 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:66:43:0:0:66:2223:253.73:126.28:127.44:1.00:1.00:1.00:60:52.3:0:0:77:73:30:chr1 g.58934641G>T (intergenic),chr1 g.58934641G>T (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 1 58934678 . C . . NT END=58939503;NT GT ./. 1 58934789 rs338239 A G 82 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2262,G/0.7738 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C,G:22:2:0:0:1,21:9,726:0.28,82.20:0.00,4.06:0.28,78.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:282.0,35.0:0,0:0,0:99,104:52,47:0,22:chr1 g.58934788A>G (intergenic),chr1 g.58934788A>G (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 1 58939335 rs338232 C T 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.02676,T/0.9732 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:18:0:0:18:569:65.47:65.47:0.00:1.00:1.00:0.00:60:48.3:0:0:65:84:41:chr1 g.58939334C>T (intergenic),chr1 g.58939334C>T (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 58939502 rs12118488 C A 146 nt VT=SNV;PN=T;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.8431,A/0.1569 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:86:71:0:0:47,39:1494,1336:146.07,0.00:96.04,0.00:50.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,30.2:0,0:0,0:65,79:74,63:35,27:chr1 g.58939501C>A (intergenic),-:0.16,-:NOT_FOUND,- 1 58939531 rs338231 G A 116 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.9858,A/0.01418 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:90:60:0:0:38,1,51:1246,8,1676:116.33,-0.18,0.00:48.16,-0.06,0.00:68.17,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.9,74.0,27.1:0,0,0:0,0,0:87,134,56:48,17,82:25,0,34:chr1 g.58939530G>A (intergenic),-:0.02,-:NOT_FOUND,- 1 58939634 rs12407003 G A 62 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.8039,A/0.1961 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:67:34:0:0:22,1,44:700,10,1348:62.25,-0.15,0.00:17.30,-0.11,0.00:44.95,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.4,106.0,6.9:0,0,0:0,0,0:45,101,83:94,49,67:21,0,30:chr1 g.58939633G>A (intergenic),-:0.18,-:NOT_FOUND,- 1 58939641 . C . . NT END=58946390;NT GT ./. 1 58946539 rs67922378 C CT 67 idl,rn VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.853,CT/0.147;DB;DBA=NA;PAF=C/0.853,CT/0.147;NP=279;PC=0.001;Gene=OMA1/NM_145243.4/1;CC=c.*97dupA;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:69:57:25:3:42,24,3:1314,778,86:0.00,67.15,5.15:0.00,48.18,4.48:0.00,18.97,0.66:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.4,23.0,45.0:0,1,0:0,0,0:59,66,28:88,81,123:40,28,6:-,NM_145243.3(OMA1) c.*97dupA:-,NOT_FOUND:-,NOT_FOUND 1 58946847 . C . . NT END=58971731;NT GT ./. 1 58946861 rs12144759 T G 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.8486,G/0.1514;PC=0.232;Gene=OMA1/NM_145243.4/1;CC=c.1366-15A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:37:15:0:0:19,18:645,528:62.45,0.00:22.01,0.00:40.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.4,10.1:0,0:0,0:95,119:56,30:23,12:NM_145243.3(OMA1) c.1366-15A>C,-:0.16,-:0.196103,- 1 58946947 rs338224 T C 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6056,C/0.3944;Gene=OMA1/NM_145243.4/1;CC=c.1366-101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:C,T:15:1:0:0:10,5:348,160:35.42,0.00:1.85,0.00:33.57,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:57.3,13.4:0,0:0,0:97,74:54,77:34,5:NM_145243.3(OMA1) c.1366-101A>G,-:0.37,-:NOT_FOUND,- 1 58971831 rs3087585 G A 113 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.7454,A/0.2546;Gene=OMA1/NM_145243.4/1;CC=c.1266C>T;ProtCh=p.F422=;VC=Silent;DM=OMA1/Peptidase_M48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:56:0:0:38,50:1208,1597:112.74,0.00:49.42,0.00:63.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.0,3.6:0,0:0,0:73,63:78,78:35,35:NM_145243.3(OMA1) c.1266C>T (p.(=)),-:0.26,-:0.326695,- 1 58971882 . C . . NT END=58992932;NT GT ./. 1 58971940 rs11207245 C A 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.7456,A/0.2544;PC=0.360;Gene=OMA1/NM_145243.4/1;CC=c.1216-59G>T;VC=Intron;DM=OMA1/Peptidase_M48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:59:28:0:0:27,32:844,1040:79.61,0.00:29.46,0.00:50.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.4,7.7:0,0:0,0:89,121:56,29:39,14:NM_145243.3(OMA1) c.1216-59G>T,-:0.22,-:NOT_FOUND,- 1 58993008 . C . . NT END=58996272;NT GT ./. 1 58996402 . C . . NT END=58999624;NT GT ./. 1 58999733 . C . . NT END=58999829;NT GT ./. 1 59000004 . C . . NT END=59002184;NT GT ./. 1 59002414 . C . . NT END=59004466;NT GT ./. 1 59004967 . T . . NT END=59041856;NT GT ./. 1 59004979 rs902925 C T 202 nt VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.02456,T/0.9754;PC=0.945;Gene=OMA1/NM_145243.4/1;CC=c.-13G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:T:56:29:0:0:56:1756:202.15:67.63:134.52:1.00:1.00:1.00:60:45.0:0:0:90:53:26:NM_145243.3(OMA1) c.=,NM_145243.3(OMA1) c.=:0.98,0.98:0.975085,0.975085 1 59005187 rs12139475 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8411,A/0.1589;Gene=OMA1/NM_145243.4/1;CC=c.-16-205C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,G:7:0:0:0:6,1:172,33:18.74,0.00:0.00,0.00:18.74,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.2,8.0:0,0:0,0:117,97:32,54:7,0:NM_145243.3(OMA1) c.-16-205C>T,-:0.16,-:NOT_FOUND,- 1 59005206 rs67517177 AT A 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AT/0.8458,A/0.1542;NP=28;PC=0.001;Gene=OMA1/NM_145243.4/1;CC=c.-16-225delA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:AT,A:5:0:0:3:2,3:63,91:0.00,9.07:0.00,0.00:0.00,9.07:0.00,0.78:0.00,0.00:0.00,0.78:60,60:40.5,36.0:0,0:0,0:130,129:21,19:14,0:-,NM_145243.3(OMA1) c.-16-225delA:-,NOT_FOUND:-,NOT_FOUND 1 59017950 rs71043294 A C 10 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=33;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,C:4:4:0:0:1,3:33,98:0.00,10.25:0.00,8.68:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,132.0:0,0:0,0:43,13:108,112:0,6:-,NM_145243.3(OMA1) c.-88-u5504T>G:-,NOT_FOUND:-,NOT_FOUND 1 59017978 rs11207258 G C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=83;PC=0.065 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,G:4:4:0:0:2,2:68,62:6.55,0.00:4.86,0.00:1.69,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:107.5,90.5:0,0:0,0:38,90:99,61:3,19:NM_145243.3(OMA1) c.-88-u5532C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 59018228 . C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:3:0:0:1,3:35,96:0.00,10.05:0.00,5.13:0.00,4.93:0.00,0.85:0.00,0.99:0.00,0.95:55,60:46.0,144.7:0,0:0,0:57,24:77,126:0,11:-,NM_145243.3(OMA1) c.-88-u5782G>C:-,NOT_FOUND:-,NOT_FOUND 1 59018230 rs61779265 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8367,G/0.1633;NP=2;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:3:0:0:1,3:35,106:0.00,11.05:0.00,5.23:0.00,5.83:0.00,0.85:0.00,0.99:0.00,0.95:55,60:46.0,144.7:0,0:0,0:59,26:75,124:0,11:-,NM_145243.3(OMA1) c.-88-u5784G>C:-,NOT_FOUND:-,NOT_FOUND 1 59018232 rs61779266 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6807,G/0.3193;NP=4;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:3:0:0:1,3:35,106:0.00,11.05:0.00,5.23:0.00,5.83:0.00,0.85:0.00,0.99:0.00,0.95:55,60:46.0,144.7:0,0:0,0:61,28:73,122:0,11:-,NM_145243.3(OMA1) c.-88-u5786G>C:-,NOT_FOUND:-,NOT_FOUND 1 59018234 rs558467085 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8367,G/.,T/0.1633;NP=12;NP=18;NP=2;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:3:0:0:1,3:35,106:0.00,11.05:0.00,5.23:0.00,5.83:0.00,0.85:0.00,0.99:0.00,0.95:55,60:46.0,144.7:0,0:0,0:63,30:71,120:0,11:-,NM_145243.3(OMA1) c.-88-u5788G>C:-,NOT_FOUND:-,NOT_FOUND 1 59041577 rs3551 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5871,G/0.4129;Gene=TACSTD2/NM_002353.2/1;CC=c.*280T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:12:12:0:0:7,5:223,168:0.00,15.65:0.00,15.65:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:6.9,66.0:0,0:0,0:52,26:97,124:27,16:-,NM_002353.2(TACSTD2) c.*280T>C:-,0.38:-,NOT_FOUND 1 59041655 rs41313363 T C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.8818,A/.,C/0.1182;PC=0.007;Gene=TACSTD2/NM_002353.2/1;CC=c.*202A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:7,14:208,457:18.34,0.00:18.34,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:62.1,7.5:0,0:0,0:39,32:112,118:32,31:NM_002353.2(TACSTD2) c.*202A>G,-:0.12,-:NOT_FOUND,- 1 59042829 . G . . NT END=59125668;NT GT ./. 1 59096141 rs139570988 T C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.265 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T:6:6:0:0:3,3:102,84:9.83,0.00:9.83,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:54,54:38.0,32.7:0,0:0,0:14,57:137,93:6,22:chr1 g.59096140T>C (intergenic),-:0.08,-:NOT_FOUND,- 1 59096338 rs77617010 T G 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=5;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:16:14:0:0:7,9:214,253:19.99,0.00:20.47,0.00:-0.48,0.00:0.98,0.00:1.00,0.00:0.74,0.00:49,60:99.9,31.6:0,0:0,0:40,32:111,106:28,25:chr1 g.59096337T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096350 rs74409986 T C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=33;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:18:0:0:8,13:248,374:22.55,0.00:17.96,0.00:4.59,0.00:0.99,0.00:1.00,0.00:0.78,0.00:59,60:101.1,20.8:0,0:0,0:39,19:108,130:16,14:chr1 g.59096349T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096372 rs79758152 T C 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6246,C/0.3754;NP=180 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:22:0:0:13,15:371,466:34.86,0.00:25.96,0.00:8.90,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:86.5,28.1:0,0:0,0:31,27:117,124:19,18:chr1 g.59096371T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096479 rs76214975 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=2;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:70:52:0:0:7,63:203,2025:13.86,0.00:10.38,0.00:3.48,0.00:0.89,0.00:0.98,0.00:0.95,0.00:60,60:249.3,24.9:0,0:0,0:23,62:112,82:12,36:chr1 g.59096478G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096487 rs76240273 T G 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=2;PC=0.943 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:G,T:73:54:0:0:7,66:229,2018:16.23,0.00:9.47,0.00:6.76,0.00:0.89,0.00:0.98,0.00:0.95,0.00:60,60:250.7,28.4:0,0:0,0:31,67:104,75:12,34:chr1 g.59096486T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096494 rs72676738 T C 164 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=703;PC=0.949 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:57:0:0:50,26:1612,735:163.85,0.00:102.26,0.00:61.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.0,10.2:0,0:0,0:44,83:101,64:29,38:chr1 g.59096493T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096544 rs72922139 A G 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:55:0:0:60,17:1922,523:0.00,42.77:0.00,33.36:0.00,9.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.7,249.3:0,0:0,0:90,56:59,94:31,19:-,chr1 g.59096543A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59096581 rs72676740 T C 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=255;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:53:0:0:15,55:499,1752:41.28,0.00:32.46,0.00:8.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:248.3,16.4:0,0:0,0:88,67:63,83:17,41:chr1 g.59096580T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096582 rs72676741 G A 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=142;PC=0.932 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:51:0:0:16,54:496,1850:40.90,0.00:30.05,0.00:10.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:250.4,15.3:0,0:0,0:90,78:60,72:20,39:chr1 g.59096581G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096598 rs72676742 C T 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:57:0:0:60,17:1927,552:0.00,45.67:0.00,34.30:0.00,11.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.3,254.6:0,0:0,0:77,101:73,50:39,21:-,chr1 g.59096597C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59096610 rs76970103 T A 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:83:66:0:0:21,62:669,1892:56.54,0.00:45.40,0.00:11.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:253.4,15.0:0,0:0,0:84,59:67,88:43,43:chr1 g.59096609T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096630 rs75507867 G A 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=2;PC=0.436 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:84:61:0:0:23,59,2:678,1907,27:57.63,0.00,0.18:45.76,0.00,-0.34:11.87,0.00,0.52:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:246.3,14.1,31.0:0,0,0:0,0,0:31,65,30:116,86,120:20,34,22:chr1 g.59096629G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096641 rs74371537 G C 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:88:64:0:0:24,64:697,2050:58.76,0.00:46.91,0.00:11.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:242.7,16.7:0,0:0,0:40,76:109,74:24,33:chr1 g.59096640G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096652 rs78363929 C A 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:91:64:0:0:30,61:943,1886:83.56,0.00:58.85,0.00:24.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:212.6,13.3:0,0:0,0:33,75:117,71:20,28:chr1 g.59096651C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096656 rs111864749 A G 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:92:65:0:0:62,30:2081,874:0.00,76.44:0.00,54.61:0.00,21.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,214.8:0,0:0,0:62,37:88,114:33,21:-,chr1 g.59096655A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59096669 rs75913621 C G 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=108;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:98:69:0:0:64,34:2077,955:0.00,84.14:0.00,60.95:0.00,23.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,198.2:0,0:0,0:73,39:76,107:34,21:-,chr1 g.59096668C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59096689 rs74079626 A G 223 nt VT=SNV;PN=C;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:109:78:0:0:38,71:1228,2201:0.00,223.26:0.00,131.21:0.00,92.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,110.2:0,0:0,0:86,47:65,104:38,32:-,chr1 g.59096688A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59096693 rs74079627 G A 136 nt VT=SNV;PN=G;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=3411;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:113:82:0:0:48,64,1:1468,2135,12:136.38,0.00,-0.11:107.48,0.00,0.01:28.90,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:147.8,15.9,50.0:0,0,0:0,0,0:48,79,137:101,69,11:26,40,0:chr1 g.59096692G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59096779 rs78917602 G GA 203 nt VT=INS;SST=Single;DP=148;DB;DBA=NA;PAF=G/0.5002,GA/0.4998;DB;DBA=NA;PAF=G/0.5002,GA/0.4998;NP=3388;PC=1.000;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GA:148:109:69:0:77,2,69:2464,18,2143:0.00,-0.26,203.40:0.00,-0.18,117.44:0.00,-0.07,85.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.6,39.0,55.2:0,0,0:0,0,0:70,71,63:80,79,87:35,52,32:-,chr1 g.59096779_59096780insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59096853 rs78779878 C T 172 nt VT=SNV;PN=T;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=NA;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:151:93:0:0:92,59:3081,1880:0.00,172.25:0.00,50.35:0.00,121.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,42.2:0,0:0,0:66,102:82,46:34,21:-,chr1 g.59096852C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59096927 rs111566536 C A 29 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=317;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,C:121:73:0:0:13,108:405,3484:28.79,0.00:-2.78,0.00:31.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:59.4,9.1:0,0:0,0:133,70:18,72:9,42:chr1 g.59096926C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 59097157 rs370289393 A AGCCCGGAT 195 nt VT=INS;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.9087,AGCCCGGAT/0.09125;PC=0.996;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,AGCCCGGAT:106:57:60:0:42,2,2,60:1348,15,57,1960:0.00,-0.15,2.89,194.61:0.00,-0.11,3.13,86.59:0.00,-0.04,-0.24,108.02:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:40.8,35.0,66.0,36.4:0,0,0,0:0,0,0,0:92,77,0,68:59,74,151,83:36,70,0,19:-,chr1 g.59097157_59097158insGCCCGGAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59097168 rs112794797 C T 214 nt VT=SNV;PN=A;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.905,T/0.09505;NP=36;PC=0.062 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:47:0:0:36,66:1196,2117:0.00,214.35:0.00,92.13:0.00,122.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.2,38.4:0,0:0,0:71,83:75,68:38,19:-,chr1 g.59097167C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59097172 rs232916 C T 102 nt VT=SNV;PN=T;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=C/0.3419,T/0.6581;PC=0.240 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:104:48:0:0:68,36:2203,1141:0.00,102.14:0.00,20.92:0.00,81.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.1,43.6:0,0:0,0:80,73:70,73:25,36:-,chr1 g.59097171C>T (intergenic):-,0.65:-,NOT_FOUND 1 59125515 rs12737926 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7019,T/0.2981;Gene=MYSM1/NM_001085487.2/1;CC=c.*154G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:12:12:0:0:6,6:205,186:0.00,17.85:0.00,17.85:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:1.7,33.8:0,0:0,0:56,71:95,79:19,17:-,NM_001085487.2(MYSM1) c.*154G>A:-,0.33:-,NOT_FOUND 1 59125828 . C . . NT END=59126841;NT GT ./. 1 59125894 rs12092264 A G 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.6556,G/0.3444;PC=0.093;Gene=MYSM1/NM_001085487.2/1;CC=c.2329-67T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:8:0:0:8,13:267,427:0.00,42.81:0.00,8.57:0.00,34.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,69.3:0,0:0,0:105,114:30,37:14,19:-,NM_001085487.2(MYSM1) c.2329-67T>C:-,0.37:-,NOT_FOUND 1 59125899 rs12082192 G A 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6556,A/0.3444;Gene=MYSM1/NM_001085487.2/1;CC=c.2329-72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:8:0:0:13,8:406,250:40.73,0.00:8.23,0.00:32.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.3,7.0:0,0:0,0:119,110:32,25:19,14:NM_001085487.2(MYSM1) c.2329-72C>T,-:0.37,-:NOT_FOUND,- 1 59126900 . C . . NT END=59127077;NT GT ./. 1 59127024 rs4912364 T G 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6595,G/0.3405;PC=0.002;Gene=MYSM1/NM_001085487.2/1;CC=c.2270+54A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:15:0:0:16,12:509,389:50.19,0.00:32.94,0.00:17.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,7.2:0,0:0,0:66,75:84,75:41,21:NM_001085487.2(MYSM1) c.2270+54A>C,-:0.37,-:NOT_FOUND,- 1 59127184 . C . . NT END=59131170;NT GT ./. 1 59131304 . C . . NT END=59132709;NT GT ./. 1 59131311 rs232790 G T 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.1048,T/0.8952;Gene=MYSM1/NM_001085487.2/1;CC=c.2032-8C>A;VC=Intron;DM=MYSM1/JAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:46:21:0:0:29,17:960,492:0.00,44.10:0.00,9.55:0.00,34.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,31.8:0,0:0,0:88,87:63,57:21,35:-,NM_001085487.2(MYSM1) c.2032-8C>A:-,0.88:-,0.864798 1 59131481 rs232791 C T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3534,T/0.6466;Gene=MYSM1/NM_001085487.2/1;CC=c.2032-178G>A;VC=Intron;DM=MYSM1/JAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:8:0:0:0:5,3:135,99:0.00,9.03:0.00,0.00:0.00,9.03:0.00,0.67:0.00,0.00:0.00,0.67:60,60:15.4,33.0:0,0:0,0:99,112:52,39:35,25:-,NM_001085487.2(MYSM1) c.2032-178G>A:-,0.63:-,NOT_FOUND 1 59132557 rs373863646 T A 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6544,A/0.3456;DB;DBA=NA;PAF=NA;Gene=MYSM1/NM_001085487.2/1;CC=c.2031+153A>T;VC=Intron;DM=MYSM1/JAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,T:13:13:0:0:6,7:185,176:17.50,0.00:17.50,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:55.2,28.6:0,0:0,0:15,24:134,127:8,24:NM_001085487.2(MYSM1) c.2031+153A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 59132899 . C . . NT END=59133518;NT GT ./. 1 59133594 . C . . NT END=59134101;NT GT ./. 1 59134239 . C . . NT END=59134303;NT GT ./. 1 59134355 . C . . NT END=59134655;NT GT ./. 1 59134586 rs11207284 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=MYSM1/NM_001085487.2/1;CC=c.1716+70C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,G:15:10:0:0:5,10:175,340:15.74,0.00:4.01,0.00:11.73,0.00:0.89,0.00:0.97,0.00:0.64,0.00:60,70:37.2,5.2:0,0:0,0:44,86:105,56:32,48:NM_001085487.2(MYSM1) c.1716+70C>G,-:0.37,-:0.366623,- 1 59134607 rs57822474 C CAG 70 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.01038,CA/0.001597,CAAG/0.0009984,CAG/0.987,CAGG/.,CG/.;NP=2765;Gene=MYSM1/NM_001085487.2/1;CC=c.1716+48_1716+49insCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:CAG:20:13:20:0:20:605:70.02:37.28:32.74:1.00:1.00:1.00:70:12.8:0:0:42:103:34:NM_001085487.2(MYSM1) c.1716+48_1716+49insCT,NM_001085487.2(MYSM1) c.1716+48_1716+49insCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 59134711 . C . . NT END=59137541;NT GT ./. 1 59137273 rs513436 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1046,T/0.8954;Gene=MYSM1/NM_001085487.2/1;CC=c.1661+269G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,T:5:4:0:0:1,4:25,118:0.00,12.62:0.00,13.32:0.00,-0.70:0.00,0.96:0.00,1.00:0.00,0.87:60,60:0.0,65.8:0,0:0,0:30,62:121,87:0,55:-,NM_001085487.2(MYSM1) c.1661+269G>A:-,0.88:-,NOT_FOUND 1 59137631 . C . . NT END=59139244;NT GT ./. 1 59137783 rs539141 A G 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.352,G/0.648;PC=0.002;Gene=MYSM1/NM_001085487.2/1;CC=c.1573-153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:7,10:204,355:0.00,35.27:0.00,0.00:0.00,35.27:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.4,37.5:0,0:0,0:110,84:39,65:18,19:-,NM_001085487.2(MYSM1) c.1573-153T>C:-,0.63:-,NOT_FOUND 1 59139223 rs2064370 C G 71 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.4179,G/0.5821;Gene=MYSM1/NM_001085487.2/1;CC=c.1572+22G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:44:0:0:24,23:832,743:0.00,71.12:0.00,49.24:0.00,21.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.9,33.7:0,0:0,0:43,31:91,119:38,20:-,NM_001085487.2(MYSM1) c.1572+22G>C:-,0.58:-,0.549975 1 59139323 . C . . NT END=59141148;NT GT ./. 1 59139537 rs11207287 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4177,A/0.5823;PC=0.004;Gene=MYSM1/NM_001085487.2/1;CC=c.1495-215C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:7:0:0:0:4,3:132,98:13.03,0.00:0.00,0.00:13.03,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:53.5,0.0:0,0:0,0:74,137:75,14:50,4:NM_001085487.2(MYSM1) c.1495-215C>T,-:0.58,-:NOT_FOUND,- 1 59141253 . C . . NT END=59142597;NT GT ./. 1 59141365 rs17118097 G A 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6573,A/0.3427,T/.;PC=0.003;Gene=MYSM1/NM_001085487.2/1;CC=c.1391-113C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:7,10:220,337:20.34,0.00:0.00,0.00:20.34,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:36.0,1.1:0,0:0,0:79,105:71,45:29,27:NM_001085487.2(MYSM1) c.1391-113C>T,-:0.37,-:NOT_FOUND,- 1 59142713 rs579110 T C 91 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.3526,C/0.6474;PC=0.981;Gene=MYSM1/NM_001085487.2/1;CC=c.1275A>G;ProtCh=p.P425=;VC=Silent;DM=MYSM1/SWIRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:22:0:0:28,15:894,489:90.55,0.00:38.26,0.00:52.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,9.0:0,0:0,0:75,79:72,57:25,30:NM_001085487.2(MYSM1) c.1275A>G (p.(=)),-:0.63,-:0.607137,- 1 59142729 . C . . NT END=59147456;NT GT ./. 1 59147420 rs11207292 G A 73 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.4177,A/0.5823;PC=0.097;Gene=MYSM1/NM_001085487.2/1;CC=c.1259+37C>T;VC=Intron;DM=MYSM1/SWIRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:41:0:0:23,23:760,738:73.11,0.00:60.66,0.00:12.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,0.5:0,0:0,0:76,50:75,101:43,24:NM_001085487.2(MYSM1) c.1259+37C>T,-:0.58,-:0.545423,- 1 59147926 rs12139511 T C 161 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.368,C/0.632;PC=0.001;Gene=MYSM1/NM_001085487.2/1;CC=c.790A>G;ProtCh=p.T264A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:104:67:0:0:1,50,53:10,1679,1717:-0.13,160.71,0.00:-0.09,106.44,0.00:-0.04,54.27,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:190.0,39.0,8.4:0,0,0:0,0,0:17,81,79:133,69,66:0,35,33:NM_001085487.2(MYSM1) c.790A>G (p.Thr264Ala),-:0.61,-:0.591938,- 1 59148218 . C . . NT END=59150824;NT GT ./. 1 59150924 . C . . NT END=59154709;NT GT ./. 1 59150941 rs2206764 G A 83 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.2712,A/0.7288;Gene=MYSM1/NM_001085487.2/1;CC=c.400-18C>T;VC=Intron;DM=MYSM1/Myb_DNA-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:12:0:0:25,15:822,468:82.65,0.00:18.92,0.00:63.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.3,15.9:0,0:0,0:73,93:72,58:22,6:NM_001085487.2(MYSM1) c.400-18C>T,-:0.88,-:NOT_FOUND,- 1 59150997 rs5774421 TA T 22 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=TA/0.4267,T/0.5733;NP=462;Gene=MYSM1/NM_001085487.2/1;CC=c.400-75delT;VC=Intron;DM=MYSM1/Myb_DNA-binding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:30:4:2:10:19,2,9:509,56,290:0.00,3.63,22.35:0.00,-0.09,-0.45:0.00,3.72,22.80:0.00,0.00,0.99:0.00,0.00,0.75:0.00,0.00,1.00:60,60,60:28.9,50.0,60.9:0,0,1:0,0,0:111,124,116:39,27,34:33,7,9:-,NM_001085487.2(MYSM1) c.400-75delT:-,NOT_FOUND:-,NOT_FOUND 1 59154789 . C . . NT END=59155897;NT GT ./. 1 59155683 rs2223698 T C 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4095,C/0.5905;Gene=MYSM1/NM_001085487.2/1;CC=c.320+215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:67,67:6.45,0.00:6.45,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:39.0,0.0:0,0:0,0:52,21:98,129:51,10:NM_001085487.2(MYSM1) c.320+215A>G,-:0.58,-:NOT_FOUND,- 1 59155922 . C . . NT END=59156011;NT GT ./. 1 59156090 . C . . NT END=59158532;NT GT ./. 1 59156155 rs12076049 C T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4181,T/0.5819;Gene=MYSM1/NM_001085487.2/1;CC=c.219-66G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:5:0:0:13,9:426,266:0.00,24.40:0.00,4.18:0.00,20.23:0.00,1.00:0.00,0.92:0.00,1.00:60,60:9.4,30.8:0,0:0,0:79,118:71,28:35,15:-,NM_001085487.2(MYSM1) c.219-66G>A:-,0.58:-,NOT_FOUND 1 59158604 . C . . NT END=59160800;NT GT ./. 1 59158632 rs12097333 T C 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.4181,C/0.5819;PC=0.235;Gene=MYSM1/NM_001085487.2/1;CC=c.148-29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:16:0:0:15,13:524,382:51.20,0.00:22.78,0.00:28.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,12.1:0,0:0,0:100,87:42,64:11,31:NM_001085487.2(MYSM1) c.148-29A>G,-:0.59,-:0.545121,- 1 59160724 rs66629118 TA T 24 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1359;PC=0.246;Gene=MYSM1/NM_001085487.2/1;CC=c.147+76delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:15:16:0:9:7,8:222,283:0.00,24.30:0.00,22.71:0.00,1.59:0.00,1.00:0.00,1.00:0.00,0.79:60,60:77.6,11.2:0,1:0,0:77,68:74,83:27,37:-,NM_001085487.2(MYSM1) c.147+76delT:-,NOT_FOUND:-,NOT_FOUND 1 59160735 rs552728270 A G 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6466,G/0.3339;DB;DBA=NA;PAF=A/0.6466,AG/0.01957;NP=1609;NP=23;PC=0.014;Gene=MYSM1/NM_001085487.2/1;CC=c.147+66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:9,9:301,262:0.00,25.04:0.00,21.52:0.00,3.53:0.00,1.00:0.00,1.00:0.00,0.89:60,60:10.0,75.6:1,0:0,0:78,82:73,69:40,37:-,NM_001085487.2(MYSM1) c.147+66T>C:-,NOT_FOUND:-,NOT_FOUND 1 59160742 rs368989804 A C 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.8674,C/0.1326;DB;DBA=NA;PAF=NA;Gene=MYSM1/NM_001085487.2/1;CC=c.147+59T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:21:0:0:12,9:381,270:0.00,25.04:0.00,20.50:0.00,4.55:0.00,1.00:0.00,1.00:0.00,0.95:60,60:7.5,75.6:0,0:0,0:45,89:106,62:42,37:-,NM_001085487.2(MYSM1) c.147+59T>G:-,0.14:-,0.175396 1 59160880 . C . . NT END=59165294;NT GT ./. 1 59160885 rs2064374 A G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.6318,G/0.3682;PC=1.000;Gene=MYSM1/NM_001085487.2/1;CC=c.69-6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:39:18:0:0:22,1,16:714,10,520:0.00,-0.03,48.39:0.00,-0.09,14.48:0.00,0.06,33.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.3,186.0,41.8:0,0,0:0,0,0:93,89,90:58,33,60:21,0,31:-,NM_001085487.2(MYSM1) c.69-6T>C:-,0.39:-,0.407789 1 59160982 rs5774423 ATACT A 21 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=ATACT/0.632,A/0.368;DB;DBA=NA;PAF=ATACT/0.632,A/0.368;NP=814;PC=0.002;Gene=MYSM1/NM_001085487.2/1;CC=c.69-107_69-104delAGTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATACT,A:14:0:0:7:7,7:212,218:0.00,20.93:0.00,0.00:0.00,20.93:0.00,0.99:0.00,0.00:0.00,0.99:60,60:18.7,17.3:0,0:0,0:100,100:50,48:17,15:-,NM_001085487.2(MYSM1) c.69-107_69-104delAGTA:-,0.39:-,NOT_FOUND 1 59165424 . A . . NT END=59165656;NT GT ./. 1 59165725 . G . . NT END=59247746;NT GT ./. 1 59165838 rs11207297 T G 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.6657,G/0.3343 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:40:3:0:0:1,17,22:30,501,644:1.64,46.61,0.00:-0.01,6.59,0.00:1.64,40.02,0.00:0.00,1.00,0.00:0.00,0.83,0.00:0.00,1.00,0.00:60,60,60:185.0,54.7,11.9:0,0,0:0,0,0:110,138,103:41,12,46:0,6,34:NM_001085487.2(MYSM1) c.-23-u91A>C,-:0.37,-:NOT_FOUND,- 1 59186841 rs57648941 GGTGT G 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;PC=0.085;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:GGTGT,G:3:4:0:3:1,2:35,95:0.00,6.55:0.00,3.28:0.00,3.28:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,6.0:0,1:0,0:29,98:31,50:0,2:-,chr1 g.59186842_59186845delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 59248743 . A . . NT END=59787221;NT GT ./. 1 59248813 rs2760499 G C 255 nt VT=SNV;PN=T;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.04812,C/0.9519;Gene=JUN/NM_002228.3/1;CC=c.-71C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:26:0:0:67:2227:254.56:58.55:196.01:1.00:1.00:1.00:60:48.0:0:0:104:41:27:NM_002228.3(JUN) c.=,NM_002228.3(JUN) c.=:0.96,0.96:NOT_FOUND,NOT_FOUND 1 59249031 rs2811894 T G 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.03994,G/0.9601;Gene=JUN/NM_002228.3/1;CC=c.-289A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:146:16.98:0.00:16.98:1.00:0.00:1.00:60:46.4:0:0:84:67:28:NM_002228.3(JUN) c.=,NM_002228.3(JUN) c.=:0.97,0.97:NOT_FOUND,NOT_FOUND 1 59286433 rs374276638 GACACACAC G 6 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=6;Gene=LINC01135/NR_034014.1/0;VC=NonCoding;Gene=LINC01135/NR_034015.1/0;VC=NonCoding;Gene=LINC01135/NR_108106.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:GACACACAC,I,G:6:4:2:4:2,1,3:48,67,96:0.00,2.76,6.34:0.00,-0.08,1.42:0.00,2.84,4.92:0.00,0.00,0.67:0.00,0.00,0.85:0.00,0.00,0.67:60,60,60:48.0,0.0,69.7:0,1,1:0,0,0:73,48,65:55,84,86:3,6,10:-,NR_034014.1(LOC100131060) n.155+35457_155+35464delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 59465268 rs2985882 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5823,A/0.4177;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:A,G:17:17:0:0:5,12:160,368:13.91,0.00:13.99,0.00:-0.08,0.00:0.88,0.00:0.88,0.00:0.53,0.00:60,60:57.4,6.9:0,0:0,0:26,71:125,78:15,42:chr1 g.59465267G>A (intergenic),-:0.41,-:NOT_FOUND,- 1 59465354 rs2764902 G T 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5823,T/0.4177;PC=0.957 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:17:0:0:15,7:491,215:0.00,18.87:0.00,16.49:0.00,2.38:0.00,0.97:0.00,0.99:0.00,0.95:60,60:10.5,47.1:0,0:0,0:60,32:91,119:29,29:-,chr1 g.59465353G>T (intergenic):-,0.41:-,NOT_FOUND 1 59465642 rs2716146 G A 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.5823,A/0.4177;PC=0.649 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:22:0:0:13,17:442,528:41.49,0.00:33.18,0.00:8.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.5,0.0:0,0:0,0:77,91:74,56:27,40:chr1 g.59465641G>A (intergenic),-:0.41,-:NOT_FOUND,- 1 59465725 rs2716147 G A 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.5823,A/0.4177;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:26:0:0:16,19:509,658:48.05,0.00:26.78,0.00:21.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.2,13.7:0,0:0,0:49,39:101,103:29,33:chr1 g.59465724G>A (intergenic),-:0.41,-:NOT_FOUND,- 1 59465849 rs2716148 G A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.5823,A/0.4177;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:23:0:0:13,26:406,789:36.04,0.00:20.16,0.00:15.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:124.7,8.6:0,0:0,0:60,77:91,67:21,27:chr1 g.59465848G>A (intergenic),-:0.41,-:NOT_FOUND,- 1 59465881 rs2716149 C G 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.5583,G/0.4417;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:36:23:0:0:1,20,15:16,661,470:0.38,0.00,43.76:-0.14,0.00,27.08:0.52,0.00,16.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:113.0,6.2,125.7:0,0,0:0,0,0:88,93,71:21,56,80:0,30,28:-,chr1 g.59465880C>G (intergenic):-,0.43:-,NOT_FOUND 1 59465917 rs2716150 G C 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.8478,C/0.1522;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:22:0:0:17,22:536,675:50.07,0.00:32.70,0.00:17.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:116.6,15.9:0,0:0,0:90,74:61,76:40,51:chr1 g.59465916G>C (intergenic),-:0.15,-:NOT_FOUND,- 1 59465926 rs2764901 A C 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5823,C/0.4177;PC=0.925 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:24:0:0:21,19:688,560:0.00,52.97:0.00,32.30:0.00,20.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,107.7:0,0:0,0:49,79:102,71:38,46:-,chr1 g.59465925A>C (intergenic):-,0.41:-,NOT_FOUND 1 59466192 rs2764900 A G 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5823,G/0.4177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:28:9:0:0:17,1,10:572,9,281:0.00,-0.04,25.07:0.00,-0.04,6.82:0.00,0.00,18.25:0.00,0.00,1.00:0.00,0.00,0.97:0.00,0.00,1.00:60,60,60:9.1,86.0,36.6:0,0,0:0,0,0:82,65,86:69,51,52:39,0,23:-,chr1 g.59466191A>G (intergenic):-,0.41:-,NOT_FOUND 1 59466301 rs2764899 G A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5823,A/0.4177;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:8:0:0:0:5,3:149,101:14.98,0.00:0.00,0.00:14.98,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:57.2,0.0:0,0:0,0:100,132:51,19:33,3:chr1 g.59466300G>A (intergenic),-:0.41,-:NOT_FOUND,- 1 59466368 rs2764898 C T 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5823,T/0.4177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:0:0:0:2,2:68,68:0.00,6.55:0.00,0.00:0.00,6.55:0.00,0.51:0.00,0.00:0.00,0.51:60,60:26.5,64.5:0,0:0,0:108,74:23,76:25,4:-,chr1 g.59466367C>T (intergenic):-,0.41:-,NOT_FOUND 1 59787423 . G . . NT END=59805629;NT GT ./. 1 59805742 . G . . NT END=59811918;NT GT ./. 1 59812071 . G . . NT END=59844420;NT GT ./. 1 59812774 rs58319841 C CTTTTT 21 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.002;Gene=FGGY/NM_001113411.1/1;CC=c.465+707_465+708insTTTTT;VC=Intron;Gene=FGGY/NM_018291.3/0;CC=c.465+707_465+708insTTTTT;VC=Intron;Gene=FGGY/NR_103473.1/0;VC=NonCoding;Gene=FGGY/NM_001244714.1/0;CC=c.201+25355_201+25356insTTTTT;VC=Intron;DM=FGGY/FGGY_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,CTTTTT:8:3:6:0:2,6:69,199:0.00,20.81:0.00,3.00:0.00,17.81:0.00,1.00:0.00,0.99:0.00,1.00:60,60:0.0,0.0:0,0:0,0:134,91:4,58:1,29:-,NM_001113411.1(FGGY) c.465+704_465+705insTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 59844510 . G . . NT END=59922632;NT GT ./. 1 59922749 . G . . NT END=59977982;NT GT ./. 1 59978112 . G . . NT END=60019795;NT GT ./. 1 60019900 . G . . NT END=60073474;NT GT ./. 1 60073583 . G . . NT END=60091659;NT GT ./. 1 60091722 . G . . NT END=60103899;NT GT ./. 1 60104048 . G . . NT END=60106951;NT GT ./. 1 60107024 . G . . NT END=60125890;NT GT ./. 1 60125966 . G . . NT END=60132954;NT GT ./. 1 60133076 . G . . NT END=60139710;NT GT ./. 1 60139806 . G . . NT END=60163319;NT GT ./. 1 60163413 . G . . NT END=60164356;NT GT ./. 1 60164209 rs4244022 C T 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5887,T/0.4113;Gene=FGGY/NM_001113411.1/1;CC=c.1584+24404C>T;VC=Intron;Gene=FGGY/NM_018291.3/0;CC=c.1512+24404C>T;VC=Intron;Gene=FGGY/NR_103473.1/0;VC=NonCoding;Gene=FGGY/NM_001244714.1/0;CC=c.1248+24404C>T;VC=Intron;Gene=FGGY/NM_001278224.1/0;CC=c.615+24404C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:418:48.44:48.44:0.00:1.00:1.00:0.00:60:37.4:0:0:33:118:29:NM_001113411.1(FGGY) c.1584+24404C>T,NM_001113411.1(FGGY) c.1584+24404C>T:0.43,0.43:NOT_FOUND,NOT_FOUND 1 60164778 rs10889153 T C 123 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.5661,C/0.4339;PC=0.007;Gene=FGGY/NM_001113411.1/1;CC=c.1584+24973T>C;VC=Intron;Gene=FGGY/NM_018291.3/0;CC=c.1512+24973T>C;VC=Intron;Gene=FGGY/NR_103473.1/0;VC=NonCoding;Gene=FGGY/NM_001244714.1/0;CC=c.1248+24973T>C;VC=Intron;Gene=FGGY/NM_001278224.1/0;CC=c.615+24973T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:48:0:0:38,46:1296,1456:122.61,0.00:61.04,0.00:61.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,2.0:0,0:0,0:68,84:74,60:34,35:NM_001113411.1(FGGY) c.1584+24973T>C,-:0.45,-:NOT_FOUND,- 1 60165067 . A . . NT END=60223602;NT GT ./. 1 60175138 rs397937088 T TCA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=303;NP=4;Gene=FGGY/NM_001113411.1/1;CC=c.1584+35368_1584+35369insAC;VC=Intron;Gene=FGGY/NM_018291.3/0;CC=c.1512+35368_1512+35369insAC;VC=Intron;Gene=FGGY/NM_001244714.1/0;CC=c.1248+35368_1248+35369insAC;VC=Intron;Gene=FGGY/NM_001278224.1/0;CC=c.615+35368_615+35369insAC;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:T,TCA,D:6:6:3:1:2,3,1:68,99,32:0.00,9.83,2.74:0.00,8.24,2.78:0.00,1.59,-0.04:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.79,0.00:60,60,60:0.0,27.0,0.0:0,0,0:0,0,0:128,30,12:22,121,138:4,11,0:-,NM_001113411.1(FGGY) c.1584+35333_1584+35334insCA:-,NOT_FOUND:-,NOT_FOUND 1 60223460 rs590704 A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.6585,G/0.3415;PC=0.007;Gene=FGGY/NM_001113411.1/1;CC=c.1585-143A>G;VC=Intron;Gene=FGGY/NM_018291.3/0;CC=c.1513-143A>G;VC=Intron;Gene=FGGY/NM_001244714.1/0;CC=c.1249-143A>G;VC=Intron;Gene=FGGY/NM_001278224.1/0;CC=c.616-143A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,G:10:10:0:0:4,6:108,189:0.00,18.86:0.00,18.86:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:41.5,50.2:0,0:0,0:26,20:125,130:16,15:-,NM_001113411.1(FGGY) c.1585-143A>G:-,0.37:-,NOT_FOUND 1 60223665 . G . . NT END=60228174;NT GT ./. 1 60228257 . A . . NT END=60280788;NT GT ./. 1 60228310 rs536126375 T TTC 44 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1448,TCT/.,TTC/0.8552;DB;DBA=NA;PAF=NA;NP=2927;Gene=FGGY/NM_001113411.1/1;CC=c.*55_*56insCT;VC=3UTR;Gene=FGGY/NM_018291.3/0;CC=c.*55_*56insCT;VC=3UTR;Gene=FGGY/NM_001244714.1/0;CC=c.*55_*56insCT;VC=3UTR;Gene=FGGY/NM_001278224.1/0;CC=c.*55_*56insCT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTC:26:6:14:0:12,14:402,447:0.00,43.58:0.00,4.96:0.00,38.62:0.00,1.00:0.00,0.99:0.00,1.00:60,60:5.7,0.7:0,0:0,0:110,115:40,35:21,20:-,NM_001113411.1(FGGY) c.*55_*56insCT:-,NOT_FOUND:-,0.805192 1 60280749 rs113730234 GT G 332 nt VT=DEL;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=170;PC=0.033;Gene=HOOK1/NM_015888.4/1;CC=c.-40delT;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:91:76:0:91:91:2887:332.08:207.51:124.57:1.00:1.00:1.00:60:4.4:0:0:41:99:27:NM_015888.4(HOOK1) c.=,NM_015888.4(HOOK1) c.=:1,1:0.999636,0.999636 1 60280853 . G . . NT END=60287529;NT GT ./. 1 60287616 . G . . NT END=60294451;NT GT ./. 1 60294525 . G . . NT END=60297834;NT GT ./. 1 60297886 . G . . NT END=60299076;NT GT ./. 1 60299210 . G . . NT END=60301016;NT GT ./. 1 60299398 rs572084051 G C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;PC=0.234;Gene=HOOK1/NM_015888.4/1;CC=c.406+189G>C;VC=Intron;DM=HOOK1/HOOK;DM=HOOK1/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,G:9:0:0:0:5,4:147,126:14.40,0.00:0.00,0.00:14.40,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:29.4,0.0:0,0:0,0:56,98:94,52:14,21:NM_015888.4(HOOK1) c.406+189G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 60301085 . G . . NT END=60302544;NT GT ./. 1 60302608 . G . . NT END=60305979;NT GT ./. 1 60306064 . G . . NT END=60309103;NT GT ./. 1 60309271 . G . . NT END=60312716;NT GT ./. 1 60312858 . G . . NT END=60313986;NT GT ./. 1 60314189 . G . . NT END=60314744;NT GT ./. 1 60314856 . G . . NT END=60324099;NT GT ./. 1 60324188 . G . . NT END=60324656;NT GT ./. 1 60324718 . G . . NT END=60325859;NT GT ./. 1 60326001 . G . . NT END=60328455;NT GT ./. 1 60328550 . G . . NT END=60329496;NT GT ./. 1 60329465 rs10706548 CT C 65 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=3;PC=1.000;Gene=HOOK1/NM_015888.4/1;CC=c.1627-829delT;VC=Intron;DM=HOOK1/HOOK;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CT,C:21:16:0:19:2,19:47,588:0.00,65.07:0.00,36.34:0.00,28.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:90.5,9.2:0,0:0,0:69,41:77,89:13,23:NM_015888.4(HOOK1) c.1627-838delT,NM_015888.4(HOOK1) c.1627-838delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 60329541 . G . . NT END=60330303;NT GT ./. 1 60330339 . G . . NT END=60330834;NT GT ./. 1 60330918 . G . . NT END=60331543;NT GT ./. 1 60331645 . G . . NT END=60333921;NT GT ./. 1 60334024 . G . . NT END=60336713;NT GT ./. 1 60336783 . G . . NT END=60338466;NT GT ./. 1 60338452 rs201568293 G GT 16 rn VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=HOOK1/NM_015888.4/1;CC=c.2017-4_2017-3insT;VC=Intron;DM=HOOK1/HOOK;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:G,GT,D:52:49:7:3:42,7,3:1354,213,96:0.00,15.92,6.24:0.00,8.23,1.57:0.00,7.68,4.67:0.00,0.92,0.00:0.00,0.99,0.00:0.00,0.83,0.00:60,70,60:13.9,26.4,44.7:0,0,0:0,0,0:33,49,28:112,102,123:28,31,5:-,NM_015888.4(HOOK1) c.2017-15_2017-14insT:-,0.04:-,NOT_FOUND 1 60338638 . A . . NT END=60359344;NT GT ./. 1 60359502 . C . . NT END=60366636;NT GT ./. 1 60366776 . C . . NT END=60370542;NT GT ./. 1 60370731 . C . . NT END=60373457;NT GT ./. 1 60373600 . C . . NT END=60375455;NT GT ./. 1 60373775 rs1155002 T C 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2764,C/0.7236;Gene=CYP2J2/NM_000775.2/1;CC=c.862-176A>G;VC=Intron;DM=CYP2J2/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:478:54.90:0.00:54.90:1.00:0.00:1.00:60:43.0:0:0:105:46:16:NM_000775.2(CYP2J2) c.862-176A>G,NM_000775.2(CYP2J2) c.862-176A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 60375633 . C . . NT END=60377279;NT GT ./. 1 60377441 . C . . NT END=60377833;NT GT ./. 1 60377984 . C . . NT END=60381609;NT GT ./. 1 60381773 . C . . NT END=60392208;NT GT ./. 1 60392441 . T . . NT END=60456344;NT GT ./. 1 60454015 . GACACACAC G 10 nt VT=DEL;SST=Single;DP=6;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:GACACACAC,G:5:5:0:4:2,3:64,134:0.00,10.03:0.00,4.96:0.00,5.06:0.00,0.73:0.00,0.96:0.00,0.51:60,60:0.0,52.7:0,1:0,0:87,32:30,119:41,15:-,chr1 g.60454016_60454023delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 60454069 rs4915842 G A 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6222,A/0.3778 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:176:19.98:7.90:12.08:1.00:1.00:1.00:60:41.4:0:0:92:59:25:chr1 g.60454068G>A (intergenic),chr1 g.60454068G>A (intergenic):0.37,0.37:NOT_FOUND,NOT_FOUND 1 60456506 . C . . NT END=60463280;NT GT ./. 1 60463489 . C . . NT END=60466748;NT GT ./. 1 60466814 rs626251 T C 23 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4489,C/0.5511;PC=0.006;Gene=C1orf87/NM_152377.2/1;CC=c.1207A>G;ProtCh=p.K403E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:21:0:0:9,16:258,530:22.97,0.00:9.93,0.00:13.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:56.9,10.6:0,0:0,0:73,69:73,77:31,27:NM_152377.2(C1orf87) c.1207A>G (p.Lys403Glu),-:0.58,-:0.508381,- 1 60466829 . C . . NT END=60476063;NT GT ./. 1 60466840 rs530057979 TA T 7 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=317;Gene=C1orf87/NM_152377.2/1;CC=c.1193-13delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,TA,T:22:17:0:3:1,18,3:8,565,92:-0.14,0.00,6.89:-0.19,0.00,3.61:0.05,0.00,3.28:0.00,0.00,0.48:0.00,0.00,0.85:0.00,0.00,0.85:60,70,60:122.0,25.7,8.0:0,0,0:0,0,0:68,101,17:83,46,133:0,22,5:-,NM_152377.2(C1orf87) c.1193-13delT:-,NOT_FOUND:-,NOT_FOUND 1 60466911 rs71582610 ACAG A 49 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1331;PC=0.006;Gene=C1orf87/NM_152377.2/1;CC=c.1193-86_1193-84delCTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:ACAG,A:15:4:0:14:1,14:28,437:0.00,48.78:0.00,9.12:0.00,39.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,20.9:0,0:0,0:147,95:3,52:0,27:NM_152377.2(C1orf87) c.1193-86_1193-84delCTG,NM_152377.2(C1orf87) c.1193-86_1193-84delCTG:0.55,0.55:NOT_FOUND,NOT_FOUND 1 60475930 rs616949 C G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3592,G/0.6408;PC=0.004;Gene=C1orf87/NM_152377.2/1;CC=c.1192+134G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:170:19.38:19.38:0.00:1.00:1.00:0.00:60:34.4:0:0:81:68:38:NM_152377.2(C1orf87) c.1192+134G>C,NM_152377.2(C1orf87) c.1192+134G>C:0.61,0.61:NOT_FOUND,NOT_FOUND 1 60476129 . C . . NT END=60491072;NT GT ./. 1 60491171 . C . . NT END=60499147;NT GT ./. 1 60499314 . C . . NT END=60503663;NT GT ./. 1 60503762 rs17560663 T C 69 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.9193,C/0.08067;PC=0.622;Gene=C1orf87/NM_152377.2/1;CC=c.765A>G;ProtCh=p.L255=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:25:0:0:21,19:708,602:68.78,0.00:30.79,0.00:38.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,2.2:0,0:0,0:80,96:61,51:25,34:NM_152377.2(C1orf87) c.765A>G (p.(=)),-:0.09,-:0.125404,- 1 60503780 . C . . NT END=60505588;NT GT ./. 1 60505480 rs12081664 G T 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8776,T/0.1224;Gene=C1orf87/NM_152377.2/1;CC=c.747+109C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:G,T:12:12:0:0:5,7:143,167:0.00,16.46:0.00,16.46:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:39.8,65.4:0,0:0,0:87,81:63,69:19,20:-,NM_152377.2(C1orf87) c.747+109C>A:-,0.12:-,NOT_FOUND 1 60505578 rs680390 A G 119 nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.148,G/0.852;Gene=C1orf87/NM_152377.2/1;CC=c.747+11T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:26:0:0:34:1034:119.46:71.30:48.16:1.00:1.00:1.00:60:50.6:0:0:45:98:26:NM_152377.2(C1orf87) c.747+11T>C,NM_152377.2(C1orf87) c.747+11T>C:0.84,0.84:0.905707,0.905707 1 60505853 . C . . NT END=60506662;NT GT ./. 1 60506762 rs74843231 G A 92 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.9467,A/0.05331,T/.;PC=0.273;Gene=C1orf87/NM_152377.2/1;CC=c.384C>T;ProtCh=p.T128=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:30:0:0:28,22:936,703:92.03,0.00:31.37,0.00:60.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,8.1:0,0:0,0:73,93:78,57:32,33:NM_152377.2(C1orf87) c.384C>T (p.(=)),-:0.07,-:0.059665,- 1 60506804 . C . . NT END=60520875;NT GT ./. 1 60521111 . C . . NT END=60538208;NT GT ./. 1 60538316 . G . . NT END=61543297;NT GT ./. 1 60770854 rs563778530 T A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;PC=0.400 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,T:4:2:0:0:2,2:69,69:6.65,0.00:-0.30,0.00:6.95,0.00:0.51,0.00:0.79,0.00:0.51,0.00:60,60:171.5,26.5:0,0:0,0:126,98:14,29:12,22:chr1 g.60770853T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 60771462 rs5774495 T TAC 6 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=74;NP=84;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:T,TAC:4:4:4:0:2,2:63,133:0.00,6.35:0.00,-1.74:0.00,8.09:0.00,0.42:0.00,0.81:0.00,0.42:60,60:0.0,5.5:0,2:0,0:131,56:19,73:9,28:-,chr1 g.60771462_60771463insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 61007062 rs144979582 CTGTGTG C 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:CTGTGTG,C:3:5:0:4:1,2:36,130:0.00,6.64:0.00,-0.02:0.00,6.66:0.00,0.46:0.00,0.46:0.00,0.87:60,60:0.0,19.5:0,2:0,0:73,44:40,82:0,28:-,chr1 g.61007063_61007068delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 61007182 rs11207633 A G 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6016,G/0.3984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:4:0:0:0:2,2:67,67:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.51:0.00,0.00:0.00,0.51:60,60:2.5,50.5:0,0:0,0:123,82:28,68:17,67:-,chr1 g.61007181A>G (intergenic):-,0.38:-,NOT_FOUND 1 61281964 rs72369930 TCACA T 15 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=268;PC=0.011;Gene=LOC101926964/NR_110628.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:5:0:5:4:171:15.22:7.61:7.61:0.96:0.96:1.00:60:2.0:1:0:56:66:2:chr1 g.61281965_61281968delCACA (intergenic),chr1 g.61281965_61281968delCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 61323981 rs12729256 C T 19 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7552,T/0.2448;PC=0.667 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:168:19.18:17.25:1.94:1.00:1.00:1.00:60:38.8:0:0:48:103:29:chr1 g.61323980C>T (intergenic),chr1 g.61323980C>T (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 1 61542892 rs1779863 A G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.005192,G/0.9948;NP=58;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:108:12.66:12.66:0.00:1.00:1.00:0.00:60:102.0:0:0:13:136:3:NM_001145511.1(NFIA) c.-352-u54A>G,NM_001145511.1(NFIA) c.-352-u54A>G:1,1:NOT_FOUND,NOT_FOUND 1 61543301 . G . . NT END=61547533;NT GT ./. 1 61547720 . G . . NT END=61548134;NT GT ./. 1 61548344 rs113913435 TTC T 28 idl,rn VT=DEL;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=92;PC=0.414;Gene=NFIA/NM_001145511.1/1;CC=c.3+5068_3+5069delCT;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.105-65_105-64delCT;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.-96_-95delCT;VC=5UTR;Gene=NFIA/NM_005595.4/0;CC=c.-96_-95delCT;VC=5UTR;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/NfI_DNAbd_pre-N;DM=NFIA/NfI_DNAbd_pre-N;DM=NFIA/NfI_DNAbd_pre-N;DM=NFIA/NfI_DNAbd_pre-N;DM=NFIA/MH1;DM=NFIA/MH1;DM=NFIA/NfI_DNAbd_pre-N;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,TTC,I,T:156:98:2:19:2,137,2,15:27,4010,60,506:-0.25,0.00,2.43,27.67:0.16,0.00,0.49,13.59:-0.42,0.00,1.94,14.08:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:54.0,21.4,0.0,29.2:0,2,0,3:0,0,0,0:119,94,114,59:32,48,37,83:15,37,0,29:-,NM_001145511.1(NFIA) c.3+5045_3+5046delTC:-,NOT_FOUND:-,NOT_FOUND 1 61548491 . G . . NT END=61553820;NT GT ./. 1 61554353 . G . . NT END=61743191;NT GT ./. 1 61592134 rs384561 A ACACACACACACT 8 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=163;NP=2;NP=3;PC=0.032;Gene=NFIA/NM_001145511.1/1;CC=c.535+37793_535+37794insTCACACACACAC;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.694+37793_694+37794insTCACACACACAC;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.559+37793_559+37794insTCACACACACAC;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.559+37793_559+37794insTCACACACACAC;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,ACACACACACACT:8:7:3:0:5,3:147,85:0.00,7.64:0.00,4.94:0.00,2.70:0.00,0.67:0.00,0.95:0.00,0.93:60,60:13.6,23.0:0,0:0,0:66,32:78,68:36,3:-,NM_001145511.1(NFIA) c.535+37782_535+37783insCACACACACACT:-,NOT_FOUND:-,NOT_FOUND 1 61743258 . G . . NT END=61798183;NT GT ./. 1 61743337 rs11207719 G T 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8405,T/0.1595;Gene=NFIA/NM_001145511.1/1;CC=c.601+80G>T;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.760+80G>T;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.625+80G>T;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.625+80G>T;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:12:0:0:23,17:701,510:0.00,47.22:0.00,2.97:0.00,44.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,43.5:0,0:0,0:124,102:27,49:16,29:-,NM_001145511.1(NFIA) c.601+80G>T:-,0.14:-,NOT_FOUND 1 61798259 . G . . NT END=61818121;NT GT ./. 1 61817938 rs3736758 C G 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8532,G/0.1468;Gene=NFIA/NM_001145511.1/1;CC=c.677-184C>G;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.836-184C>G;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.701-184C>G;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.701-184C>G;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:314:36.54:36.54:0.00:1.00:1.00:0.00:60:29.5:0:0:37:113:27:NM_001145511.1(NFIA) c.677-184C>G,NM_001145511.1(NFIA) c.677-184C>G:0.15,0.15:NOT_FOUND,NOT_FOUND 1 61818240 . G . . NT END=61824818;NT GT ./. 1 61818422 rs7528918 A G 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.115,G/0.885;Gene=NFIA/NM_001145511.1/1;CC=c.794+183A>G;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.953+183A>G;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.818+183A>G;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.818+183A>G;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:10:2:0:0:9,1:256,20:29.40,1.49:5.70,0.00:23.71,1.49:1.00,0.00:0.99,0.00:1.00,0.00:60,60:46.8,49.0:0,0:0,0:61,52:79,77:33,0:NM_001145511.1(NFIA) c.794+183A>G,NM_001145511.1(NFIA) c.794+183A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 61818428 rs201320110 TACACACAC T 26 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=NFIA/NM_001145511.1/1;CC=c.794+210_794+217delACACACAC;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.953+210_953+217delACACACAC;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.818+210_818+217delACACACAC;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.818+210_818+217delACACACAC;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:TACACACAC,T:9:2:0:9:1,8:29,269:0.00,26.34:0.00,5.52:0.00,20.82:0.00,1.00:0.00,0.97:0.00,1.00:60,60:60.0,51.0:0,1:0,0:149,58:1,73:0,26:-,NM_001145511.1(NFIA) c.794+190_794+197delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 61824514 rs397861557 TC T 22 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TC/0.1933,T/0.8067;DB;DBA=NA;PAF=TC/0.1933,T/0.8067;NP=361;PC=0.495;Gene=NFIA/NM_001145511.1/1;CC=c.795-303delC;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.954-303delC;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.819-303delC;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.819-303delC;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:TC,T:7:7:0:6:1,6:18,199:0.00,21.53:0.00,21.53:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:110.0,0.0:1,0:0,0:105,33:41,117:0,11:-,NM_001145511.1(NFIA) c.795-304delC:-,0.82:-,NOT_FOUND 1 61824947 . G . . NT END=61848908;NT GT ./. 1 61827454 rs68028756 GGTGT G 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GGTGT/0.2236,G/0.7764;DB;DBA=NA;PAF=GGTGT/0.2236,G/0.7764;NP=13;Gene=NFIA/NM_001145511.1/1;CC=c.922+2549_922+2552delGTGT;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.1081+2549_1081+2552delGTGT;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.946+2549_946+2552delGTGT;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.946+2549_946+2552delGTGT;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GGTGT,G:3:3:0:3:1,2:33,88:0.00,6.75:0.00,3.33:0.00,3.43:0.00,0.51:0.00,0.89:0.00,0.79:60,60:28.0,45.5:0,1:0,0:72,45:41,106:0,27:-,NM_001145511.1(NFIA) c.922+2509_922+2512delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 61827534 rs11207728 G A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1522,A/0.8478;Gene=NFIA/NM_001145511.1/1;CC=c.922+2588G>A;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.1081+2588G>A;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.946+2588G>A;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.946+2588G>A;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:2:0:0:6:156:18.38:2.97:15.41:1.00:1.00:1.00:60:47.0:0:0:54:94:18:NM_001145511.1(NFIA) c.922+2588G>A,NM_001145511.1(NFIA) c.922+2588G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 61849038 . G . . NT END=61869775;NT GT ./. 1 61869955 . G . . NT END=61872233;NT GT ./. 1 61872215 rs58081092 GC G 10 idl,rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=GC/0.5204,G/0.4796;DB;DBA=NA;PAF=GC/0.5204,G/0.4796;NP=30;PC=0.006;Gene=NFIA/NM_001145511.1/1;CC=c.1231-5delC;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.1390-5delC;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.1255-5delC;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.1255-5delC;VC=Intron;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;DM=NFIA/CTF_NFI;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,GC,T,I,G:33:31:10:5:2,20,1,5,5:49,359,13,234,132:2.87,0.00,0.17,9.29,9.99:-0.38,0.00,-0.18,1.07,3.81:3.26,0.00,0.35,8.23,6.18:0.00,0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.00,0.87:60,60,60,60,60:122.0,21.9,146.0,89.0,27.6:1,2,0,5,0:0,0,0,0,0:61,98,88,96,45:80,15,62,27,95:22,11,0,28,8:-,NM_001145511.1(NFIA) c.1231-18delC:-,NOT_FOUND:-,NOT_FOUND 1 61872400 . G . . NT END=61892136;NT GT ./. 1 61872541 rs10889221 G A 65 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7658,A/0.2342;Gene=NFIA/NM_001145511.1/1;CC=c.1396+142G>A;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.1555+142G>A;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.1420+142G>A;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.1420+142G>A;VC=Intron;DM=NFIA/CTF_NFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:0:0:0:21,15:659,507:65.30,0.00:0.00,0.00:65.30,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.4,8.0:0,0:0,0:100,57:50,94:33,30:NM_001145511.1(NFIA) c.1396+142G>A,-:0.24,-:NOT_FOUND,- 1 61892229 . G . . NT END=61920974;NT GT ./. 1 61892301 rs77770269 T TG 48 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=964;PC=0.006;Gene=NFIA/NM_001145511.1/1;CC=c.1488+74dupG;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.1647+74dupG;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.1512+74dupG;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.1420+19903dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:T,TG:16:2:14:0:2,14:56,435:0.00,47.56:0.00,5.03:0.00,42.53:0.00,1.00:0.00,0.99:0.00,1.00:60,60:14.5,18.9:0,0:0,0:149,109:2,41:1,28:-,NM_001145511.1(NFIA) c.1488+73_1488+74insG:-,NOT_FOUND:-,NOT_FOUND 1 61904670 rs58019278 GAC G 10 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.059;Gene=NFIA/NM_001145511.1/1;CC=c.1488+12483_1488+12484delAC;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.1647+12483_1647+12484delAC;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.1512+12483_1512+12484delAC;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.1421-16264_1421-16263delAC;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:GAC,G:7:7:0:5:4,3:119,102:0.00,9.56:0.00,6.17:0.00,3.39:0.00,0.69:0.00,0.69:0.00,0.83:60,60:9.8,21.3:0,0:0,0:114,64:31,86:18,24:-,NM_001145511.1(NFIA) c.1488+12443_1488+12444delAC:-,NOT_FOUND:-,NOT_FOUND 1 61920769 rs2474358 T C 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1276,C/0.8724;Gene=NFIA/NM_001145511.1/1;CC=c.1489-206T>C;VC=Intron;Gene=NFIA/NM_001145512.1/0;CC=c.1648-206T>C;VC=Intron;Gene=NFIA/NM_001134673.3/0;CC=c.1513-206T>C;VC=Intron;Gene=NFIA/NM_005595.4/0;CC=c.1421-206T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:328:37.57:37.57:0.00:1.00:1.00:0.00:60:36.2:0:0:35:115:28:NM_001145511.1(NFIA) c.1489-206T>C,NM_001145511.1(NFIA) c.1489-206T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 61921052 . C . . NT END=62149107;NT GT ./. 1 61921185 rs570911766 A AT 28 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=380;PC=1.000;Gene=NFIA/NM_001145511.1/1;CC=c.*206dupT;VC=3UTR;Gene=NFIA/NM_001145512.1/0;CC=c.*206dupT;VC=3UTR;Gene=NFIA/NM_001134673.3/0;CC=c.*206dupT;VC=3UTR;Gene=NFIA/NM_005595.4/0;CC=c.*147dupT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,AT:16:0:10:0:7,9:166,320:0.00,28.36:0.00,0.00:0.00,28.36:0.00,1.00:0.00,0.00:0.00,1.00:60,60:36.0,19.7:1,1:0,0:139,122:10,28:5,8:-,NM_001145511.1(NFIA) c.*206dupT:-,NOT_FOUND:-,NOT_FOUND 1 61921199 rs74089375 A T 7 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.9696,T/0.03035;Gene=NFIA/NM_001145511.1/1;CC=c.*207A>T;VC=3UTR;Gene=NFIA/NM_001145512.1/0;CC=c.*207A>T;VC=3UTR;Gene=NFIA/NM_001134673.3/0;CC=c.*207A>T;VC=3UTR;Gene=NFIA/NM_005595.4/0;CC=c.*148A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,T:16:0:0:0:13,3:402,85:0.00,6.58:0.00,0.00:0.00,6.58:0.00,0.54:0.00,0.00:0.00,0.54:60,60:20.5,82.0:0,0:0,0:108,147:42,4:38,1:-,NM_001145511.1(NFIA) c.*207A>T:-,0.04:-,NOT_FOUND 1 62119978 rs10789097 C G 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1398,G/0.8602;PC=0.645;Gene=MGC34796/NR_073400.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:13:0:0:17:570:65.11:30.16:34.94:1.00:1.00:1.00:60:34.7:0:0:75:74:28:chr1 g.62119977C>G (intergenic),chr1 g.62119977C>G (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 1 62149219 . C . . NT END=62152463;NT GT ./. 1 62152594 . c . . NT END=62160368;NT GT ./. 1 62160443 . C . . NT END=62166605;NT GT ./. 1 62160542 rs1151765 A G 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.07169,G/0.9283;Gene=TM2D1/NM_032027.2/1;CC=c.440-100T>C;VC=Intron;DM=TM2D1/TM2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:2:0:0:18:514:59.86:3.98:55.88:1.00:1.00:1.00:60:59.7:0:0:67:70:42:NM_032027.2(TM2D1) c.440-100T>C,NM_032027.2(TM2D1) c.440-100T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 62166698 . C . . NT END=62175000;NT GT ./. 1 62175110 . C . . NT END=62189384;NT GT ./. 1 62189459 . G . . NT END=62190628;NT GT ./. 1 62190793 . C . . NT END=62228564;NT GT ./. 1 62228587 . G . . NT END=62228684;NT GT ./. 1 62228852 . G . . NT END=62231950;NT GT ./. 1 62231924 rs141761262 T TTGA 26 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3169,TTGA/0.6831,TTGG/.;NP=2913;PC=0.255;Gene=INADL/NM_176877.2/1;CC=c.190-25_190-23dupGAT;VC=Intron;DM=INADL/L27_2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTGA:22:20:9:0:13,9:389,280:0.00,25.83:0.00,15.80:0.00,10.02:0.00,1.00:0.00,1.00:0.00,0.96:60,60:29.4,22.3:1,0:0,0:45,57:105,91:24,20:-,NM_176877.2(INADL) c.190-27_190-26insTGA:-,0.69:-,0.611555 1 62232031 rs1286835 C T 167 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.08986,T/0.9101;PC=0.013;Gene=INADL/NM_176877.2/1;CC=c.270C>T;ProtCh=p.I90=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:T:45:36:0:0:45:1452:166.63:100.69:65.94:1.00:1.00:1.00:60:43.6:0:0:51:92:35:NM_176877.2(INADL) c.=,NM_176877.2(INADL) c.=:0.93,0.93:0.903583,0.903583 1 62232146 . G . . NT END=62234954;NT GT ./. 1 62232173 rs1290444 T C 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9497,C/0.05032;Gene=INADL/NM_176877.2/1;CC=c.384+28T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:11:0:0:13,13:403,404:38.65,0.00:11.52,0.00:27.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,17.7:0,0:0,0:93,81:56,63:12,18:NM_176877.2(INADL) c.384+28T>C,-:0.06,-:0.081347,- 1 62235095 . G . . NT END=62237102;NT GT ./. 1 62237299 . G . . NT END=62240877;NT GT ./. 1 62241007 . G . . NT END=62253425;NT GT ./. 1 62253645 . G . . NT END=62257019;NT GT ./. 1 62253768 rs397697137 G GA 43 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.04752,GA/0.9525;DB;DBA=NA;PAF=G/0.04752,GA/0.9525;NP=984;PC=0.001;Gene=INADL/NM_176877.2/1;CC=c.1068+134dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:G,GA:17:0:15:0:4,13:132,472:0.00,43.46:0.00,0.00:0.00,43.46:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.8,10.2:0,2:0,0:137,96:11,52:5,36:-,NM_176877.2(INADL) c.1068+124_1068+125insA:-,NOT_FOUND:-,NOT_FOUND 1 62257036 rs1286823 A C 121 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.9539,C/0.04613;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.1085A>C;ProtCh=p.E362A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:25:0:0:31:1065:121.28:78.04:43.25:1.00:1.00:1.00:60:38.5:0:0:59:91:29:NM_176877.2(INADL) c.1085A>C (p.Glu362Ala),NM_176877.2(INADL) c.1085A>C (p.Glu362Ala):0.06,0.06:0.083423,0.083423 1 62257120 . G . . NT END=62261138;NT GT ./. 1 62261231 . G . . NT END=62262958;NT GT ./. 1 62263101 . G . . NT END=62267294;NT GT ./. 1 62267442 . G . . NT END=62271119;NT GT ./. 1 62267608 . C CT 14 rn VT=INS;SST=Single;DP=16;NP=1;Gene=INADL/NM_176877.2/1;CC=c.1549+179_1549+180insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,T,CT:16:0:5:0:8,3,5:249,72,158:0.00,5.75,14.36:0.00,0.00,0.00:0.00,5.75,14.36:0.00,0.00,0.88:0.00,0.00,0.00:0.00,0.00,0.88:60,60,60:37.5,87.7,45.4:0,1,0:0,0,0:127,82,126:24,56,25:9,44,5:-,NM_176877.2(INADL) c.1549+167_1549+168insT:-,NOT_FOUND:-,NOT_FOUND 1 62267625 rs11207841 G A 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1743,A/0.8257;Gene=INADL/NM_176877.2/1;CC=c.1549+184G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:393:45.02:0.00:45.02:1.00:0.00:1.00:60:64.2:0:0:134:15:10:NM_176877.2(INADL) c.1549+184G>A,NM_176877.2(INADL) c.1549+184G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 62267656 rs11803807 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.01518,T/0.9848;Gene=INADL/NM_176877.2/1;CC=c.1549+215C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:170:19.38:0.00:19.38:1.00:0.00:1.00:60:88.8:0:0:109:37:7:NM_176877.2(INADL) c.1549+215C>T,NM_176877.2(INADL) c.1549+215C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 62271197 . G . . NT END=62274145;NT GT ./. 1 62274203 . G . . NT END=62288616;NT GT ./. 1 62288752 . G . . NT END=62293093;NT GT ./. 1 62293256 . G . . NT END=62299325;NT GT ./. 1 62299458 . G . . NT END=62321701;NT GT ./. 1 62321912 . G . . NT END=62327222;NT GT ./. 1 62327340 . G . . NT END=62329909;NT GT ./. 1 62330080 rs2799627 T G 348 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.009185,C/.,G/0.9908;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.2610T>G;ProtCh=p.I870M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,I:92:61:1:0:91,1:3047,19:347.56,0.55:193.80,0.00:153.76,0.55:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,71.0:0,0:0,0:71,2:77,149:40,0:NM_176877.2(INADL) c.=,NM_176877.2(INADL) c.=:0.99,0.99:0.987467,0.987467 1 62330306 . G . . NT END=62340914;NT GT ./. 1 62340726 rs12096192 G A 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3081,A/0.6919;Gene=INADL/NM_176877.2/1;CC=c.2836-189G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:225:26.27:26.27:0.00:1.00:1.00:0.00:60:52.9:0:0:35:115:27:NM_176877.2(INADL) c.2836-189G>A,NM_176877.2(INADL) c.2836-189G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 62340855 rs12753462 G C 84 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7023,C/0.2977;PC=0.008;Gene=INADL/NM_176877.2/1;CC=c.2836-60G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:C,G:23:23:0:0:22,1:753,13:84.15,0.00:76.13,0.00:8.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,55.0:0,0:0,0:42,141:100,10:27,0:NM_176877.2(INADL) c.2836-60G>C,NM_176877.2(INADL) c.2836-60G>C:0.32,0.32:NOT_FOUND,NOT_FOUND 1 62341039 . G . . NT END=62349908;NT GT ./. 1 62341157 rs4598521 T C 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.276,C/0.724;Gene=INADL/NM_176877.2/1;CC=c.2959+119T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:2:0:0:16:469:54.51:3.88:50.64:1.00:1.00:1.00:60:40.7:0:0:106:44:33:NM_176877.2(INADL) c.2959+119T>C,NM_176877.2(INADL) c.2959+119T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 62349654 rs66955606 ATT A 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ATT/0.01398,A/0.986;DB;DBA=NA;PAF=ATT/0.01398,A/0.986;NP=223;PC=0.009;Gene=INADL/NM_176877.2/1;CC=c.2960-247_2960-246delTT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:4:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:21.2:0:0:20:116:5:NM_176877.2(INADL) c.2960-254_2960-253delTT,NM_176877.2(INADL) c.2960-254_2960-253delTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 62350081 . G . . NT END=62365254;NT GT ./. 1 62350123 rs72229771 GTTTTT G 13 idl,nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GTTTTT/0.1516,G/0.8484;NP=4;PC=0.001;Gene=INADL/NM_176877.2/1;CC=c.3131+61_3131+65delTTTTT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:GTTTTT,G:17:8:0:11:12,5:377,292:0.00,13.33:0.00,0.86:0.00,12.46:0.00,0.84:0.00,0.83:0.00,0.98:60,60:10.4,14.6:0,5:0,0:127,70:18,80:8,27:-,NM_176877.2(INADL) c.3131+44_3131+48delTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 62365217 rs1412622 C T 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.4417,T/0.5583;Gene=INADL/NM_176877.2/1;CC=c.3132-38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:28:0:0:17,12:543,389:0.00,36.08:0.00,31.90:0.00,4.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.8,41.3:0,0:0,0:35,46:103,104:18,20:-,NM_176877.2(INADL) c.3132-38C>T:-,0.55:-,0.622405 1 62365327 . G . . NT END=62366953;NT GT ./. 1 62365428 rs5774578 G GA 18 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6116,GA/0.3884;NP=2389;Gene=INADL/NM_176877.2/1;CC=c.3203+104dupA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,GA:16:0:6:0:10,6:316,196:0.00,17.87:0.00,0.00:0.00,17.87:0.00,0.95:0.00,0.00:0.00,0.95:60,60:18.6,0.0:0,0:0,0:124,93:26,58:24,23:-,NM_176877.2(INADL) c.3203+102_3203+103insA:-,0.4:-,NOT_FOUND 1 62366878 rs2499002 T G 65 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.1951,G/0.8049;PC=0.001;Gene=INADL/NM_176877.2/1;CC=c.3204-76T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:49:48:0:0:21,28:692,928:64.69,0.00:55.32,0.00:9.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,1.8:0,0:0,0:31,23:119,127:21,18:NM_176877.2(INADL) c.3204-76T>G,-:0.8,-:NOT_FOUND,- 1 62367132 . G . . NT END=62374043;NT GT ./. 1 62374155 . G . . NT END=62380258;NT GT ./. 1 62374267 rs2151122 T C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1166,C/0.8834;Gene=INADL/NM_176877.2/1;CC=c.3492+113T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:9:0:0:0:6,3:209,99:21.27,0.00:0.00,0.00:21.27,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:36.3,9.7:0,0:0,0:78,94:72,56:26,17:NM_176877.2(INADL) c.3492+113T>C,-:0.87,-:NOT_FOUND,- 1 62380124 rs4915789 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3177,G/0.6823;PC=0.001;Gene=INADL/NM_176877.2/1;CC=c.3493-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:177:20.56:20.56:0.00:1.00:1.00:0.00:60:45.3:0:0:10:136:10:NM_176877.2(INADL) c.3493-135A>G,NM_176877.2(INADL) c.3493-135A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 1 62380270 rs1134766 C T 36 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.223,T/0.777;Gene=INADL/NM_176877.2/1;CC=c.3504C>T;ProtCh=p.N1168=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:21:0:0:13,12:339,379:0.00,36.14:0.00,20.53:0.00,15.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.6,72.3:0,0:0,0:59,40:83,110:36,25:-,NM_176877.2(INADL) c.3504C>T (p.(=)):-,0.79:-,0.792173 1 62380298 rs1056513 G A 38 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5549,A/0.4451;Gene=INADL/NM_176877.2/1;CC=c.3532G>A;ProtCh=p.G1178S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:15:0:0:12,11:392,258:38.15,0.00:14.18,0.00:23.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.9,22.6:0,0:0,0:67,78:82,73:32,24:NM_176877.2(INADL) c.3532G>A (p.Gly1178Ser),-:0.49,-:0.485238,- 1 62380337 . G . . NT END=62393401;NT GT ./. 1 62393394 rs2251182 A G 107 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.1534,G/0.8466;PC=0.001;Gene=INADL/NM_176877.2/1;CC=c.3571-8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:24:0:0:29:929:106.71:64.11:42.60:1.00:1.00:1.00:60:35.5:0:0:40:104:21:NM_176877.2(INADL) c.3571-8A>G,NM_176877.2(INADL) c.3571-8A>G:0.87,0.87:0.868907,0.868907 1 62393502 . G . . NT END=62455839;NT GT ./. 1 62405029 rs61115372 G GAC 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;NP=541;PC=0.002;Gene=INADL/NM_176877.2/1;CC=c.3670+11545_3670+11546insCA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:G,GAC:4:3:3:0:1,3:15,102:0.00,10.67:0.00,5.63:0.00,5.04:0.00,0.85:0.00,0.99:0.00,0.85:60,60:57.0,4.7:0,0:0,0:108,79:42,72:0,30:-,NM_176877.2(INADL) c.3670+11528_3670+11529insAC:-,NOT_FOUND:-,NOT_FOUND 1 62456014 rs1134767 G A 259 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.5252,A/0.4748;Gene=INADL/NM_176877.2/1;CC=c.3845G>A;ProtCh=p.R1282H;VC=Missense;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:A,T:70:36:0:0:69,1:2262,11:258.58,0.17:81.90,0.17:176.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,63.0:0,0:0,0:100,60:47,90:24,0:NM_176877.2(INADL) c.3845G>A (p.Arg1282His),NM_176877.2(INADL) c.3845G>A (p.Arg1282His):0.43,0.43:0.445333,0.445333 1 62456037 . G . . NT END=62457153;NT GT ./. 1 62457447 . T . . NT END=62479014;NT GT ./. 1 62479183 . G . . NT END=62483527;NT GT ./. 1 62483415 rs372936285 A G,AG 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8732,G/0.1268;DB;DBA=NA;PAF=NA;PC=1.000;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:47:G,AG:12:12:2:0:10,2:332,67:37.18,6.10:37.18,6.10:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.2,0.0:0,0:0,0:52,62:97,88:35,0:NM_176877.2(INADL) c.3868-113A>G,NM_176877.2(INADL) c.3868-113_3868-112insG:0.13,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 62483599 rs34726576 G A 126 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8928,A/0.1072;PC=0.996;Gene=INADL/NM_176877.2/1;CC=c.3939G>A;ProtCh=p.K1313=;VC=Silent;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:18:0:0:33:1104:126.10:50.94:75.17:1.00:1.00:1.00:60:47.7:0:0:93:55:27:NM_176877.2(INADL) c.3939G>A (p.(=)),NM_176877.2(INADL) c.3939G>A (p.(=)):0.12,0.12:0.192834,0.192834 1 62483620 . G . . NT END=62503648;NT GT ./. 1 62483623 rs41313250 A G 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.9477,G/0.05232;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.3959+4A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:15:0:0:16,12:522,383:0.00,35.72:0.00,11.44:0.00,24.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.2,70.1:0,0:0,0:109,100:37,35:24,24:-,NM_176877.2(INADL) c.3959+4A>G:-,0.06:-,0.089036 1 62503722 . G . . NT END=62516637;NT GT ./. 1 62504715 rs6661849 G C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8622,C/0.1378;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.4032+994G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:1:0:0:8:245:28.29:3.88:24.42:1.00:1.00:1.00:60:36.0:0:0:82:69:30:NM_176877.2(INADL) c.4032+994G>C,NM_176877.2(INADL) c.4032+994G>C:0.15,0.15:NOT_FOUND,NOT_FOUND 1 62514958 rs71050195 AT A 8 sb,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=118;PC=0.013;Gene=INADL/NM_176877.2/1;CC=c.4033-1671delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AT,A:5:3:0:3:2,3:66,83:0.00,8.26:0.00,1.23:0.00,7.03:0.00,0.78:0.00,0.94:0.00,0.97:60,60:5.0,13.3:0,0:0,0:100,84:38,38:8,29:-,NM_176877.2(INADL) c.4033-1679delT:-,NOT_FOUND:-,NOT_FOUND 1 62516683 rs2498982 G C 225 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.4291,C/0.5709;Gene=INADL/NM_176877.2/1;CC=c.4078G>C;ProtCh=p.V1360L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:C,T:62:44:0:0:61,1:1969,12:225.41,0.23:109.31,0.23:116.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,135.0:0,0:0,0:73,75:60,76:25,0:NM_176877.2(INADL) c.4078G>C (p.Val1360Leu),NM_176877.2(INADL) c.4078G>C (p.Val1360Leu):0.52,0.52:0.607028,0.607028 1 62516731 . G . . NT END=62538692;NT GT ./. 1 62539031 . a . . NT END=62545121;NT GT ./. 1 62545085 rs17379217 C T 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8027,T/0.1973;Gene=INADL/NM_176877.2/1;CC=c.4126-37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:22:0:0:23:801:91.07:75.21:15.86:1.00:1.00:1.00:60:44.2:0:0:51:99:24:NM_176877.2(INADL) c.4126-37C>T,NM_176877.2(INADL) c.4126-37C>T:0.24,0.24:0.279948,0.279948 1 62545240 . G . . NT END=62550186;NT GT ./. 1 62550321 . G . . NT END=62574108;NT GT ./. 1 62574193 . G . . NT END=62579724;NT GT ./. 1 62579463 rs2476191 G A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6981,A/0.3019;Gene=INADL/NM_176877.2/1;CC=c.4462-262G>A;VC=Intron;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:107:12.53:12.53:0.00:1.00:1.00:0.00:60:84.5:0:0:48:102:32:NM_176877.2(INADL) c.4462-262G>A,NM_176877.2(INADL) c.4462-262G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 1 62579523 rs1475565 C T 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3916,T/0.6084;Gene=INADL/NM_176877.2/1;CC=c.4462-202C>T;VC=Intron;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:258:30.50:30.50:0.00:1.00:1.00:0.00:60:60.2:0:0:53:97:21:NM_176877.2(INADL) c.4462-202C>T,NM_176877.2(INADL) c.4462-202C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 62579672 rs1475564 A C 197 nt VT=SNV;PN=G;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.1967,C/0.8033;PC=0.003;Gene=INADL/NM_176877.2/1;CC=c.4462-53A>C;VC=Intron;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:49:0:0:52:1722:196.85:160.60:36.24:1.00:1.00:1.00:60:54.2:0:0:59:90:37:NM_176877.2(INADL) c.4462-53A>C,NM_176877.2(INADL) c.4462-53A>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 62579758 rs41289428 G A 158 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.995,A/0.004992;NP=89;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.4495G>A;ProtCh=p.E1499K;VC=Missense;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:65:0:0:49,42:1619,1308:158.09,0.00:103.57,0.00:54.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.1,38.5:0,0:0,0:62,66:86,82:36,36:NM_176877.2(INADL) c.4495G>A (p.Glu1499Lys),-:0.01,-:0.011379,- 1 62579823 rs1475563 G A 359 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.391,A/0.609;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.4560G>A;ProtCh=p.E1520=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:96:56:0:0:96:3136:359.27:151.15:208.12:1.00:1.00:1.00:60:57.9:0:0:73:70:28:NM_176877.2(INADL) c.4560G>A (p.(=)),NM_176877.2(INADL) c.4560G>A (p.(=)):0.65,0.65:0.620406,0.620406 1 62579891 rs12140153 G T 97 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.9734,A/.,T/0.02656;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.4628G>T;ProtCh=p.G1543V;VC=Missense;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:72:34:0:0:38,34:1301,1022:0.00,96.72:0.00,39.06:0.00,57.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.2,66.2:0,0:0,0:74,111:61,33:41,27:-,NM_176877.2(INADL) c.4628G>T (p.Gly1543Val):-,0.03:-,0.063125 1 62579923 . A . . NT END=62582203;NT GT ./. 1 62582352 . G . . NT END=62582803;NT GT ./. 1 62583139 . T . . NT END=62586852;NT GT ./. 1 62583178 rs202208470 TA T 13 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=23;PC=0.016;Gene=INADL/NM_176877.2/1;CC=c.4890+301delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,TA,I,T:25:9:2:5:1,17,2,5:20,525,64,160:0.81,0.00,4.55,13.24:-0.08,0.00,2.52,4.13:0.89,0.00,2.03,9.11:0.00,0.00,0.00,0.83:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.97:60,60,60,60:20.0,11.6,18.0,3.4:0,0,0,0:0,0,0,0:19,128,75,130:132,23,75,21:0,21,41,2:-,NM_176877.2(INADL) c.4890+289delA:-,NOT_FOUND:-,NOT_FOUND 1 62586968 . G . . NT END=62588692;NT GT ./. 1 62587014 rs71582664 T TA 45 rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2376,TAAA/0.2556;DB;DBA=NA;PAF=T/0.2376,TA/0.3586,TAA/0.07708,TAAA/0.2556,TAAAA/0.02716,TTAA/.,TTAAA/0.04393;NP=9;NP=926;PC=0.007;Gene=INADL/NM_176877.2/1;CC=c.5005+59dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:28:6:16:0:13,15:357,494:0.00,45.10:0.00,2.54:0.00,42.56:0.00,1.00:0.00,0.98:0.00,1.00:60,60:18.0,13.8:0,1:0,0:139,88:8,59:7,22:-,NM_176877.2(INADL) c.5005+47_5005+48insA:-,NOT_FOUND:-,NOT_FOUND 1 62588731 . G . . NT END=62593643;NT GT ./. 1 62593767 . G . . NT END=62594512;NT GT ./. 1 62593893 rs2481664 T C 113 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6591,C/0.3409;PC=0.001;Gene=INADL/NM_176877.2/1;CC=c.5166+127T>C;VC=Intron;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:1:0:0:33:970:112.72:3.98:108.74:1.00:1.00:1.00:60:41.5:0:0:114:37:24:NM_176877.2(INADL) c.5166+127T>C,NM_176877.2(INADL) c.5166+127T>C:0.33,0.33:NOT_FOUND,NOT_FOUND 1 62594593 rs2476194 C T 168 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6691,T/0.3309;PC=0.997;Gene=INADL/NM_176877.2/1;CC=c.5247C>T;ProtCh=p.N1749=;VC=Silent;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:T:45:28:0:0:45:1463:167.71:63.52:104.19:1.00:1.00:1.00:60:44.3:0:0:96:46:29:NM_176877.2(INADL) c.5247C>T (p.(=)),NM_176877.2(INADL) c.5247C>T (p.(=)):0.33,0.33:0.426057,0.426057 1 62594618 . G . . NT END=62613955;NT GT ./. 1 62594677 rs2481665 T C 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8135,C/0.1865;PC=1.000;Gene=INADL/NM_176877.2/1;CC=c.5271+60T>C;VC=Intron;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:4:0:0:16:509:58.48:9.89:48.59:1.00:1.00:1.00:60:65.4:0:0:126:24:14:NM_176877.2(INADL) c.5271+60T>C,NM_176877.2(INADL) c.5271+60T>C:0.22,0.22:NOT_FOUND,NOT_FOUND 1 62613786 rs66743140 CTG C 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CTG/0.3349,C/0.6651;NP=57;PC=0.049;Gene=INADL/NM_176877.2/1;CC=c.5272-168_5272-167delGT;VC=Intron;DM=INADL/PDZ;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:CTG,C:5:5:0:4:1,4:14,134:0.00,14.24:0.00,14.24:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:13.0,43.8:0,1:0,0:150,97:1,26:0,15:-,NM_176877.2(INADL) c.5272-169_5272-168delTG:-,0.66:-,NOT_FOUND 1 62613793 rs74323279 T A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2931,A/0.7069;NP=3;Gene=INADL/NM_176877.2/1;CC=c.5272-163T>A;VC=Intron;DM=INADL/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:119:13.80:13.80:0.00:1.00:1.00:0.00:60:43.8:3:0:102:21:15:NM_176877.2(INADL) c.5272-163T>A,NM_176877.2(INADL) c.5272-163T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 62614063 . G . . NT END=62619029;NT GT ./. 1 62619154 . G . . NT END=62626579;NT GT ./. 1 62626727 . G . . NT END=62672559;NT GT ./. 1 62672546 rs2457829 G A 116 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.1192,A/0.8808;PC=0.020;Gene=L1TD1/NM_001164835.1/1;CC=c.246G>A;ProtCh=p.G82=;VC=Silent;Gene=L1TD1/NM_019079.4/0;CC=c.246G>A;ProtCh=p.G82=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:A:31:26:0:0:31:1012:115.94:82.28:33.65:1.00:1.00:1.00:60:35.2:0:0:54:97:27:NM_001164835.1(L1TD1) c.246G>A (p.(=)),NM_001164835.1(L1TD1) c.246G>A (p.(=)):0.89,0.89:0.884124,0.884124 1 62672794 . c . . NT END=62675454;NT GT ./. 1 62673037 rs7542665 T C 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4237,C/0.5763;PC=0.145;Gene=L1TD1/NM_001164835.1/1;CC=c.737T>C;ProtCh=p.V246A;VC=Missense;Gene=L1TD1/NM_019079.4/0;CC=c.737T>C;ProtCh=p.V246A;VC=Missense;DM=L1TD1/Transposase_22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:C,T:4:0:0:0:3,1:105,25:10.96,0.00:0.00,0.00:10.96,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:52.7,9.0:0,0:0,0:115,19:35,132:18,0:NM_001164835.1(L1TD1) c.737T>C (p.Val246Ala),-:0.57,-:0.702273,- 1 62675261 rs2481695 G A 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7544,A/0.2456;PC=0.001;Gene=L1TD1/NM_001164835.1/1;CC=c.1009-194G>A;VC=Intron;Gene=L1TD1/NM_019079.4/0;CC=c.1009-194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:11:11:0:0:4,7:129,176:11.69,0.00:11.69,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:35.0,64.7:0,0:0,0:42,30:107,121:25,15:NM_001164835.1(L1TD1) c.1009-194G>A,-:0.27,-:NOT_FOUND,- 1 62675619 rs4625314 C T 163 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.7015,T/0.2985;Gene=L1TD1/NM_001164835.1/1;CC=c.1173C>T;ProtCh=p.A391=;VC=Silent;Gene=L1TD1/NM_019079.4/0;CC=c.1173C>T;ProtCh=p.A391=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:128:95:0:0:73,1,54:2235,5,1744:0.00,-0.24,162.59:0.00,-0.14,110.55:0.00,-0.09,52.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.9,42.0,43.9:0,0,0:0,0,0:64,73,62:84,39,86:29,0,37:-,NM_001164835.1(L1TD1) c.1173C>T (p.(=)):-,0.32:-,0.452938 1 62675892 rs2481694 A G 167 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=A/0.4924,G/0.5076;Gene=L1TD1/NM_001164835.1/1;CC=c.1446A>G;ProtCh=p.E482=;VC=Silent;Gene=L1TD1/NM_019079.4/0;CC=c.1446A>G;ProtCh=p.E482=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:127:72:0:0:71,55,1:2291,1786,10:0.00,167.35,-0.17:0.00,77.15,-0.05:0.00,90.20,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.5,40.0,145.0:0,0,0:0,0,0:63,81,112:86,67,39:29,40,0:-,NM_001164835.1(L1TD1) c.1446A>G (p.(=)):-,0.5:-,0.616408 1 62676207 . G . . NT END=62677026;NT GT ./. 1 62676284 rs2886644 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.005;Gene=L1TD1/NM_001164835.1/1;CC=c.1838C>T;ProtCh=p.T613I;VC=Missense;Gene=L1TD1/NM_019079.4/0;CC=c.1838C>T;ProtCh=p.T613I;VC=Missense;DM=L1TD1/Transposase_22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:17:2:0:0:11,6:367,198:0.00,17.87:0.00,3.38:0.00,14.49:0.00,0.95:0.00,0.65:0.00,0.95:60,60:13.5,34.7:0,0:0,0:109,105:42,46:20,13:-,NM_001164835.1(L1TD1) c.1838C>T (p.Thr613Ile):-,0.16:-,0.231852 1 62677045 . C . . NT END=62703948;NT GT ./. 1 62677048 rs1056517 G T 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=L1TD1/NM_001164835.1/1;CC=c.*4G>T;VC=3UTR;Gene=L1TD1/NM_019079.4/0;CC=c.*4G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:32:0:0:25,16:782,546:0.00,50.33:0.00,31.69:0.00,18.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,38.4:0,0:0,0:71,38:78,107:26,16:-,NM_001164835.1(L1TD1) c.*4G>T:-,0.36:-,0.463048 1 62704054 . C . . NT END=62713143;NT GT ./. 1 62704181 rs76827207 G A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9413,A/0.05871;Gene=KANK4/NM_181712.4/1;CC=c.2884-128C>T;VC=Intron;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:A,G:12:0:0:0:7,5:241,165:23.90,0.00:0.00,0.00:23.90,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:34.4,4.0:0,0:0,0:104,123:47,28:33,13:NM_181712.4(KANK4) c.2884-128C>T,-:0.06,-:NOT_FOUND,- 1 62712999 rs111297754 TG T 21 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=TG/0.654,T/0.346;NP=127;PC=0.104;Gene=KANK4/NM_181712.4/1;CC=c.2883+144delC;VC=Intron;DM=KANK4/Ank_2;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TG,T:19:19:0:8:1,10,8:12,249,227:0.29,0.00,21.16:0.29,0.00,21.16:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:26.0,34.4,30.6:0,0,0:0,0,0:130,55,19:21,90,131:0,43,13:-,NM_181712.4(KANK4) c.2883+144delC:-,NOT_FOUND:-,NOT_FOUND 1 62713224 rs2941679 C G 431 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.01378,G/0.9862;PC=0.938;Gene=KANK4/NM_181712.4/1;CC=c.2803G>C;ProtCh=p.V935L;VC=Missense;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:114:84:0:0:114:3766:430.72:222.51:208.21:1.00:1.00:1.00:60:54.6:0:0:85:56:26:NM_181712.4(KANK4) c.2803G>C (p.Val935Leu),NM_181712.4(KANK4) c.2803G>C (p.Val935Leu):0.98,0.98:0.970783,0.970783 1 62713246 rs10889315 G A 189 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.6811,A/0.3189;PC=0.078;Gene=KANK4/NM_181712.4/1;CC=c.2781C>T;ProtCh=p.H927=;VC=Silent;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:83:0:0:60,55:1951,1659:189.12,0.00:103.86,0.00:85.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.5,38.4:0,0:0,0:84,84:61,64:37,38:NM_181712.4(KANK4) c.2781C>T (p.(=)),-:0.31,-:0.390897,- 1 62713345 . C . . NT END=62718738;NT GT ./. 1 62713469 rs10789108 T C 69 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6312,C/0.3688;Gene=KANK4/NM_181712.4/1;CC=c.2683-125A>G;VC=Intron;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:0:0:0:20:597:69.23:0.00:69.23:1.00:0.00:1.00:60:39.1:0:0:113:38:25:NM_181712.4(KANK4) c.2683-125A>G,NM_181712.4(KANK4) c.2683-125A>G:0.35,0.35:NOT_FOUND,NOT_FOUND 1 62718882 . C . . NT END=62728763;NT GT ./. 1 62719081 rs34488630 CT C,CTT 9 idl,nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.002;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:10:CT,CTT,C:9:0:4:3:3,3,3:79,123,99:0.00,8.40,9.30:0.00,0.00,0.00:0.00,8.40,9.30:0.00,0.00,0.62:0.00,0.00,0.00:0.00,0.00,0.62:60,60,60:33.3,28.3,11.7:0,1,0:0,0,0:117,103,85:32,47,66:5,16,6:NM_181712.4(KANK4) c.2540-201delA,NM_181712.4(KANK4) c.2540-201dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 62719141 rs6691288 A G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9443,G/0.05571;Gene=KANK4/NM_181712.4/1;CC=c.2540-260T>C;VC=Intron;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:5:0:0:0:1,4:32,134:0.00,14.22:0.00,0.00:0.00,14.22:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,62.0:0,0:0,0:136,89:15,61:0,52:-,NM_181712.4(KANK4) c.2540-260T>C:-,0.06:-,NOT_FOUND 1 62728784 rs2666472 A G 197 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.2841,C/.,G/0.7159;PC=1.000;Gene=KANK4/NM_181712.4/1;CC=c.2519T>C;ProtCh=p.V840A;VC=Missense;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:G:56:52:0:0:56:1707:197.17:155.02:42.16:1.00:1.00:1.00:60:100.2:0:0:42:101:25:NM_181712.4(KANK4) c.2519T>C (p.Val840Ala),NM_181712.4(KANK4) c.2519T>C (p.Val840Ala):0.72,0.72:0.674304,0.674304 1 62728838 rs2258470 T C 308 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.2837,A/.,C/0.7163;PC=1.000;Gene=KANK4/NM_181712.4/1;CC=c.2465A>G;ProtCh=p.H822R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:80:72:0:0:80:2695:307.63:218.43:89.20:1.00:1.00:1.00:60:101.1:0:0:69:74:34:NM_181712.4(KANK4) c.2465A>G (p.His822Arg),NM_181712.4(KANK4) c.2465A>G (p.His822Arg):0.72,0.72:0.674612,0.674612 1 62728861 rs2260581 T C 341 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.2837,C/0.7163;PC=0.045;Gene=KANK4/NM_181712.4/1;CC=c.2442A>G;ProtCh=p.K814=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:88:75:0:0:88:2987:340.61:211.37:129.24:1.00:1.00:1.00:60:98.6:0:0:68:78:37:NM_181712.4(KANK4) c.2442A>G (p.(=)),NM_181712.4(KANK4) c.2442A>G (p.(=)):0.72,0.72:0.674535,0.674535 1 62728918 rs2262110 G A 398 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.2839,A/0.7161;Gene=KANK4/NM_181712.4/1;CC=c.2385C>T;ProtCh=p.P795=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:102:72:0:0:102:3497:398.32:186.35:211.97:1.00:1.00:1.00:60:79.7:0:0:59:83:34:NM_181712.4(KANK4) c.2385C>T (p.(=)),NM_181712.4(KANK4) c.2385C>T (p.(=)):0.72,0.72:0.674535,0.674535 1 62728984 . C . . NT END=62732403;NT GT ./. 1 62729015 rs2262106 G A 238 nt VT=SNV;PN=G;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.2905,A/0.7095;PC=0.418;Gene=KANK4/NM_181712.4/1;CC=c.2320-32C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:65:25:0:0:65:2071:237.98:61.53:176.45:1.00:1.00:1.00:60:59.6:0:0:112:34:19:NM_181712.4(KANK4) c.2320-32C>T,NM_181712.4(KANK4) c.2320-32C>T:0.71,0.71:0.666744,0.666744 1 62732421 rs11207949 T C 38 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6945,C/0.3055;PC=0.936;Gene=KANK4/NM_181712.4/1;CC=c.2302A>G;ProtCh=p.T768A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:23:0:0:13,20:411,632:37.68,0.00:21.51,0.00:16.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,0.9:0,0:0,0:70,58:80,81:21,21:NM_181712.4(KANK4) c.2302A>G (p.Thr768Ala),-:0.35,-:0.237429,- 1 62732492 . C . . NT END=62733958;NT GT ./. 1 62734178 . C . . NT END=62737149;NT GT ./. 1 62737262 . C . . NT END=62738875;NT GT ./. 1 62738904 rs7516290 T C 162 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.1995,C/0.8005;PC=0.087;Gene=KANK4/NM_181712.4/1;CC=c.1872A>G;ProtCh=p.P624=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:81:0:0:49,39:1653,1209:162.44,0.00:113.57,0.00:48.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.2,14.1:0,0:0,0:63,46:87,90:24,28:NM_181712.4(KANK4) c.1872A>G (p.(=)),-:0.78,-:0.734575,- 1 62739495 rs115190866 C T 133 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.9874,T/0.01258;Gene=KANK4/NM_181712.4/1;CC=c.1281G>A;ProtCh=p.S427=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:116:82:0:0:70,46:2238,1448:0.00,132.87:0.00,67.82:0.00,65.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,42.3:0,0:0,0:68,87:77,63:42,39:-,NM_181712.4(KANK4) c.1281G>A (p.(=)):-,0.01:-,0.029602 1 62740065 rs12127930 A G 217 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=A/0.5178,G/0.4822;Gene=KANK4/NM_181712.4/1;CC=c.711T>C;ProtCh=p.G237=;VC=Silent;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:148:106:0:0:76,72:2343,2271:0.00,216.88:0.00,131.64:0.00,85.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,42.6:0,0:0,0:69,75:81,74:37,33:-,NM_181712.4(KANK4) c.711T>C (p.(=)):-,0.43:-,0.488313 1 62740264 rs41309173 T C 224 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=T/0.986,C/0.01398;PC=0.848;Gene=KANK4/NM_181712.4/1;CC=c.512A>G;ProtCh=p.H171R;VC=Missense;DM=KANK4/Ank_2;DM=KANK4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:151:82:0:0:74,77:2347,2435:224.40,0.00:98.56,0.00:125.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,5.6:0,0:0,0:79,82:68,60:39,36:NM_181712.4(KANK4) c.512A>G (p.His171Arg),-:0.02,-:0.03038,- 1 62740446 rs2666506 T C 164 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.1955,C/0.8045;Gene=KANK4/NM_181712.4/1;CC=c.330A>G;ProtCh=p.P110=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:118:86:0:0:56,1,61:1729,9,1848:164.27,-0.15,0.00:98.61,-0.06,0.00:65.66,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:75.6,14.0,11.4:0,0,0:0,0,0:86,44,68:59,106,81:34,0,38:NM_181712.4(KANK4) c.330A>G (p.(=)),-:0.79,-:0.735267,- 1 62740449 rs2666507 T C 176 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.219,C/0.781;Gene=KANK4/NM_181712.4/1;CC=c.327A>G;ProtCh=p.S109=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:120:88:0:0:58,62:1843,1892:175.72,0.00:110.20,0.00:65.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.1,12.2:0,0:0,0:82,62:67,83:34,38:NM_181712.4(KANK4) c.327A>G (p.(=)),-:0.77,-:0.707109,- 1 62740760 . C . . NT END=62747220;NT GT ./. 1 62740780 . TA T 10 rn VT=DEL;SST=Single;DP=60;NP=64;PC=0.005;Gene=KANK4/NM_181712.4/1;CC=c.17-22delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:TA,I,T:60:21:1:5:54,1,5:1590,33,155:0.00,1.61,10.46:0.00,0.91,0.91:0.00,0.70,9.55:0.00,0.00,0.69:0.00,0.00,0.72:0.00,0.00,0.95:60,60,60:16.9,0.0,8.8:0,0,0:0,0,0:116,62,79:33,65,55:26,0,16:-,NM_181712.4(KANK4) c.17-22delT:-,NOT_FOUND:-,0.116669 1 62740930 rs2666508 A G 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1959,G/0.8041;PC=0.014;Gene=KANK4/NM_181712.4/1;CC=c.17-171T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G:9:0:0:0:6,3:185,82:0.00,7.14:0.00,0.00:0.00,7.14:0.00,0.64:0.00,0.00:0.00,0.64:60,60:17.2,27.3:0,0:0,0:78,113:73,38:41,17:-,NM_181712.4(KANK4) c.17-171T>C:-,0.79:-,NOT_FOUND 1 62744878 . A T 10 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;Gene=KANK4/NM_181712.4/1;CC=c.16+2343T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,T:5:4:0:4:2,3:67,101:0.00,10.07:0.00,8.54:0.00,1.53:0.00,0.78:0.00,0.97:0.00,0.87:60,60:52.0,78.3:0,2:0,0:126,38:24,113:4,12:-,NM_181712.4(KANK4) c.16+2343T>A:-,NOT_FOUND:-,NOT_FOUND 1 62744915 rs12125010 G C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5687,C/0.4313;Gene=KANK4/NM_181712.4/1;CC=c.16+2306C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,G:7:6:0:1:5,2:175,67:18.07,0.00:8.59,0.00:9.48,0.00:0.98,0.00:1.00,0.00:0.99,0.00:60,60:64.2,5.5:0,0:0,0:75,71:76,79:14,19:NM_181712.4(KANK4) c.16+2306C>G,-:0.38,-:NOT_FOUND,- 1 62744954 rs11207956 C T 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7714,T/0.2286;PC=0.007;Gene=KANK4/NM_181712.4/1;CC=c.16+2267G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:8:5:0:0:2,6:35,201:0.00,21.03:0.00,4.45:0.00,16.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,75.8:0,0:0,0:110,88:40,60:19,24:-,NM_181712.4(KANK4) c.16+2267G>A:-,0.22:-,NOT_FOUND 1 62747237 . C . . NT END=62905538;NT GT ./. 1 62875684 . AACACACAC A 15 nt VT=DEL;SST=Single;DP=8;NP=1;PC=0.088;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:AACACACAC,A:7:6:0:6:2,5:67,182:0.00,15.41:0.00,10.30:0.00,5.10:0.00,0.97:0.00,1.00:0.00,0.99:60,60:37.0,28.6:0,1:0,0:91,31:40,97:14,12:-,chr1 g.62875685_62875692delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 62905709 . G . . NT END=62907158;NT GT ./. 1 62905893 rs10493322 C T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6759,T/0.3241;PC=0.001;Gene=USP1/NM_001017415.1/0;CC=c.170+185C>T;VC=Intron;Gene=USP1/NM_001017416.1/0;CC=c.170+185C>T;VC=Intron;Gene=USP1/NM_003368.4/1;CC=c.170+185C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:C,T:14:0:0:0:6,8:180,263:0.00,25.97:0.00,0.00:0.00,25.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.5,36.8:0,0:0,0:42,94:108,56:37,11:-,NM_003368.4(USP1) c.170+185C>T:-,0.29:-,NOT_FOUND 1 62907280 . G . . NT END=62907865;NT GT ./. 1 62907971 . G . . NT END=62908829;NT GT ./. 1 62908538 rs641540 A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5639,G/0.4361;Gene=USP1/NM_001017415.1/0;CC=c.397-292A>G;VC=Intron;Gene=USP1/NM_001017416.1/0;CC=c.397-292A>G;VC=Intron;Gene=USP1/NM_003368.4/1;CC=c.397-292A>G;VC=Intron;DM=USP1/UCH;DM=USP1/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:8:8:0:0:5,3:165,93:0.00,8.43:0.00,8.43:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:2.6,31.0:0,0:0,0:23,44:128,105:18,19:-,NM_003368.4(USP1) c.397-292A>G:-,0.38:-,NOT_FOUND 1 62908991 . G . . NT END=62910408;NT GT ./. 1 62911101 . G . . NT END=62913011;NT GT ./. 1 62911305 rs371962741 G GTA 12 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;Gene=USP1/NM_001017415.1/0;CC=c.1249+206_1249+207insAT;VC=Intron;Gene=USP1/NM_001017416.1/0;CC=c.1249+206_1249+207insAT;VC=Intron;Gene=USP1/NM_003368.4/1;CC=c.1249+206_1249+207insAT;VC=Intron;DM=USP1/UCH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:G,GTA:11:0:4:0:7,4:214,134:0.00,12.19:0.00,0.00:0.00,12.19:0.00,0.82:0.00,0.00:0.00,0.82:60,70:13.4,26.2:0,0:0,0:99,91:51,60:19,27:-,NM_003368.4(USP1) c.1249+205_1249+206insTA:-,NOT_FOUND:-,NOT_FOUND 1 62911341 rs598253 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5639,C/0.4361;Gene=USP1/NM_001017415.1/0;CC=c.1249+241T>C;VC=Intron;Gene=USP1/NM_001017416.1/0;CC=c.1249+241T>C;VC=Intron;Gene=USP1/NM_003368.4/1;CC=c.1249+241T>C;VC=Intron;DM=USP1/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,T:7:0:0:0:3,4:105,122:9.86,0.00:0.00,0.00:9.86,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:35.0,15.8:0,0:0,0:125,120:26,31:8,9:NM_003368.4(USP1) c.1249+241T>C,-:0.38,-:NOT_FOUND,- 1 62912919 rs10158897 C T 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.6759,T/0.3241;PC=0.005;Gene=USP1/NM_001017415.1/0;CC=c.1250-93C>T;VC=Intron;Gene=USP1/NM_001017416.1/0;CC=c.1250-93C>T;VC=Intron;Gene=USP1/NM_003368.4/1;CC=c.1250-93C>T;VC=Intron;DM=USP1/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:31:0:0:18,18:531,560:0.00,53.73:0.00,45.94:0.00,7.79:0.00,1.00:0.00,1.00:0.00,0.73:60,60:13.7,40.9:0,0:0,0:39,49:112,100:24,27:-,NM_003368.4(USP1) c.1250-93C>T:-,0.29:-,NOT_FOUND 1 62913183 . G . . NT END=62914135;NT GT ./. 1 62914338 . G . . NT END=62915916;NT GT ./. 1 62916653 . A . . NT END=62921084;NT GT ./. 1 62916796 rs583609 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5647,C/0.4353;PC=1.000;Gene=USP1/NM_001017415.1/0;CC=c.*144T>C;VC=3UTR;Gene=USP1/NM_001017416.1/0;CC=c.*144T>C;VC=3UTR;Gene=USP1/NM_003368.4/1;CC=c.*144T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,T:11:0:0:0:4,7:112,223:9.96,0.00:0.00,0.00:9.96,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:36.8,31.7:0,0:0,0:134,126:17,24:11,10:NM_003368.4(USP1) c.*144T>C,-:0.38,-:NOT_FOUND,- 1 62921128 . C . . NT END=62923208;NT GT ./. 1 62923377 . C . . NT END=62939652;NT GT ./. 1 62939466 rs10889330 G C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5976,C/0.4024;PC=0.057;Gene=DOCK7/NM_001271999.1/0;CC=c.6179+187C>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.6092+187C>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.6086+187C>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.6119+187C>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:C,G:9:9:0:0:6,3:182,87:18.55,0.00:18.55,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:53.3,4.0:0,0:0,0:43,119:100,32:24,4:NM_033407.2(DOCK7) c.6119+187C>G,-:0.35,-:NOT_FOUND,- 1 62939634 rs1168007 C T 193 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.03694,T/0.9631;Gene=DOCK7/NM_001271999.1/0;CC=c.6179+19G>A;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.6092+19G>A;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.6086+19G>A;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.6119+19G>A;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:T:53:46:0:0:53:1678:192.97:146.19:46.78:1.00:1.00:1.00:60:39.2:0:0:31:119:21:NM_033407.2(DOCK7) c.6119+19G>A,NM_033407.2(DOCK7) c.6119+19G>A:0.97,0.97:0.961172,0.961172 1 62939760 . C . . NT END=62940878;NT GT ./. 1 62941023 . C . . NT END=62941377;NT GT ./. 1 62941168 rs541259252 GA G 12 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1239;Gene=DOCK7/NM_001271999.1/0;CC=c.5929-147delT;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.5842-147delT;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.5836-147delT;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.5869-147delT;VC=Intron;DM=DOCK7/DHR-2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:GA,G:14:1:0:5:9,5:239,139:0.00,12.33:0.00,-0.19:0.00,12.52:0.00,0.90:0.00,0.57:0.00,0.99:60,60:27.8,31.8:0,0:0,0:120,113:22,38:28,15:-,NM_033407.2(DOCK7) c.5869-147delT:-,NOT_FOUND:-,NOT_FOUND 1 62941615 . C . . NT END=62941737;NT GT ./. 1 62941828 . C . . NT END=62943370;NT GT ./. 1 62943264 rs1168008 C T 104 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.02456,T/0.9754;PC=0.001;Gene=DOCK7/NM_001271999.1/0;CC=c.5601+107G>A;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.5514+107G>A;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.5508+107G>A;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.5541+107G>A;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:29:0:0:29:906:104.38:100.50:3.88:1.00:1.00:1.00:60:37.9:0:0:27:123:18:NM_033407.2(DOCK7) c.5541+107G>A,NM_033407.2(DOCK7) c.5541+107G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 62943506 . C . . NT END=62950785;NT GT ./. 1 62950858 rs10889332 C T 138 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.6016,T/0.3984;PC=0.017;Gene=DOCK7/NM_001271999.1/0;CC=c.5466+3747G>A;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.5388+2211G>A;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.5373+3747G>A;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.5415+2211G>A;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:85:0:0:58,49:1812,1467:0.00,137.94:0.00,95.03:0.00,42.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,35.2:0,0:0,0:60,54:88,91:28,34:-,NM_033407.2(DOCK7) c.5415+2211G>A:-,0.35:-,NOT_FOUND 1 62951325 . C . . NT END=62953068;NT GT ./. 1 62953084 . C . . NT END=62954604;NT GT ./. 1 62953183 rs1168025 C T 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.004792,T/0.9952;NP=3390;Gene=DOCK7/NM_001271999.1/0;CC=c.5466+1422G>A;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.5374-100G>A;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.5373+1422G>A;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.5401-100G>A;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:4:0:0:11:336:38.84:7.75:31.09:1.00:1.00:1.00:60:38.3:0:0:107:44:22:NM_033407.2(DOCK7) c.5401-100G>A,NM_033407.2(DOCK7) c.5401-100G>A:1,1:NOT_FOUND,NOT_FOUND 1 62954372 rs79290919 G GA 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6659,GA/0.3341;DB;DBA=NA;PAF=G/0.6659,GA/0.3341,GAA/.;DB;DBA=NA;PAF=G/0.6659,GA/0.3341;DB;DBA=NA;PAF=NA;NP=129;PC=0.006;Gene=DOCK7/NM_001271999.1/0;CC=c.5466+232dupT;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.5373+232dupT;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.5373+232dupT;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.5400+232dupT;VC=Intron;DM=DOCK7/DHR-2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,GA:5:5:3:0:2,3:71,99:0.00,9.87:0.00,9.87:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,59.0:0,0:0,0:70,48:80,103:36,22:-,NM_033407.2(DOCK7) c.5400+232_5400+233insT:-,NOT_FOUND:-,NOT_FOUND 1 62954737 . C . . NT END=62958374;NT GT ./. 1 62954971 rs2489835 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4353,C/0.5647;PC=0.026;Gene=DOCK7/NM_001271999.1/0;CC=c.5335-235A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.5242-235A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.5242-235A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.5269-235A>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:C,T:10:0:0:0:5,5:148,169:14.15,0.00:0.00,0.00:14.15,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:59.4,0.0:0,0:0,0:55,49:84,102:7,24:NM_033407.2(DOCK7) c.5269-235A>G,-:0.61,-:NOT_FOUND,- 1 62958519 . C . . NT END=62959945;NT GT ./. 1 62958658 rs1183851 T C 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.609,C/0.391;PC=0.113;Gene=DOCK7/NM_001271999.1/0;CC=c.5191-140A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.5098-140A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.5098-140A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.5125-140A>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,C,T:10:0:0:0:1,6,3:10,161,97:0.42,16.41,0.00:0.00,0.00,0.00:0.42,16.41,0.00:0.00,0.99,0.00:0.00,0.00,0.00:0.00,0.99,0.00:60,60,60:40.0,34.2,0.0:0,0,0:0,0,0:137,99,116:10,50,35:0,9,20:NM_033407.2(DOCK7) c.5125-140A>G,-:0.44,-:NOT_FOUND,- 1 62960101 rs10889335 A G 164 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.6504,G/0.3496;PC=0.003;Gene=DOCK7/NM_001271999.1/0;CC=c.5035T>C;ProtCh=p.L1679=;VC=Silent;Gene=DOCK7/NM_001272000.1/0;CC=c.4942T>C;ProtCh=p.L1648=;VC=Silent;Gene=DOCK7/NM_001272001.1/0;CC=c.4942T>C;ProtCh=p.L1648=;VC=Silent;Gene=DOCK7/NM_033407.3/1;CC=c.4969T>C;ProtCh=p.L1657=;VC=Silent;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:105:52:0:0:55,50:1770,1718:0.00,164.11:0.00,65.31:0.00,98.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,36.3:0,0:0,0:82,94:67,52:41,37:-,NM_033407.2(DOCK7) c.4969T>C (p.(=)):-,0.31:-,0.353375 1 62960139 . C . . NT END=62961251;NT GT ./. 1 62960250 rs1168041 T C 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.3826,C/0.6174;PC=0.002;Gene=DOCK7/NM_001271999.1/0;CC=c.4998-112A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.4905-112A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.4905-112A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.4932-112A>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:0:0:0:14,16:417,462:39.34,0.00:0.00,0.00:39.34,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.4,9.8:0,0:0,0:111,120:40,29:29,18:NM_033407.2(DOCK7) c.4932-112A>G,-:0.66,-:NOT_FOUND,- 1 62961353 . C . . NT END=62962009;NT GT ./. 1 62961928 rs1168038 T C 96 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.01957,C/0.9804;Gene=DOCK7/NM_001271999.1/0;CC=c.4896+82A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.4803+82A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.4803+82A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.4830+82A>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:23:0:0:26:833:95.69:81.94:13.75:1.00:1.00:1.00:60:37.6:0:0:24:126:17:NM_033407.2(DOCK7) c.4830+82A>G,NM_033407.2(DOCK7) c.4830+82A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 62962169 . C . . NT END=62970300;NT GT ./. 1 62970454 . C . . NT END=62971352;NT GT ./. 1 62971488 . C . . NT END=62973632;NT GT ./. 1 62973730 . C . . NT END=62976247;NT GT ./. 1 62973795 rs1184865 A G 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4399,G/0.5601;PC=0.158;Gene=DOCK7/NM_001271999.1/0;CC=c.4353-66T>C;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.4260-66T>C;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.4260-66T>C;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.4287-66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:6:0:0:12,17:420,499:0.00,49.43:0.00,2.49:0.00,46.94:0.00,1.00:0.00,0.99:0.00,1.00:60,60:1.6,39.9:0,0:0,0:84,116:66,34:34,28:-,NM_033407.2(DOCK7) c.4287-66T>C:-,0.62:-,NOT_FOUND 1 62976345 . C . . NT END=62979114;NT GT ./. 1 62976472 rs1168043 T G 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.01637,G/0.9836;Gene=DOCK7/NM_001271999.1/0;CC=c.4256-128A>C;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.4163-128A>C;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.4163-128A>C;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.4190-128A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:0:0:0:14:422:48.86:0.00:48.86:1.00:0.00:1.00:60:33.5:0:0:91:58:46:NM_033407.2(DOCK7) c.4190-128A>C,NM_033407.2(DOCK7) c.4190-128A>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 62978924 rs61042514 CGG C 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CGG/0.01577,C/0.9842;DB;DBA=NA;PAF=CGG/0.01577,C/0.9842;DB;DBA=NA;PAF=CGG/0.01577,C/0.9842;NP=6;Gene=DOCK7/NM_001271999.1/0;CC=c.4255+216_4255+217delCC;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.4162+216_4162+217delCC;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.4162+216_4162+217delCC;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.4189+189_4189+190delCC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CGG,I,C:5:6:2:3:1,1,3:35,62,97:0.00,2.52,9.93:0.00,2.52,9.93:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:0.0,442.0,16.3:0,1,0:0,0,0:140,16,27:11,127,124:0,2,22:-,NM_033407.2(DOCK7) c.4189+189_4189+190delCC:-,NOT_FOUND:-,NOT_FOUND 1 62979278 . C . . NT END=62979386;NT GT ./. 1 62979570 . C . . NT END=62993821;NT GT ./. 1 62993620 rs12403207 T C 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.4355,C/0.5645;PC=0.022;Gene=DOCK7/NM_001271999.1/0;CC=c.3936+202A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.3843+202A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.3843+202A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.3843+202A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:11,10:320,347:30.91,0.00:30.91,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.5,9.3:0,0:0,0:46,48:105,102:22,28:NM_033407.2(DOCK7) c.3843+202A>G,-:0.62,-:NOT_FOUND,- 1 62993977 . C . . NT END=62994947;NT GT ./. 1 62995118 . C . . NT END=63001163;NT GT ./. 1 63000731 rs61393465 GC G 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GC/0.6508,G/0.3492;NP=411;PC=0.010;Gene=DOCK7/NM_001271999.1/0;CC=c.3611+432delG;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.3518+432delG;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.3518+432delG;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.3518+432delG;VC=Intron;DM=DOCK7/DHR-2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GC,G:5:4:0:4:1,4:35,129:0.00,13.72:0.00,14.42:0.00,-0.70:0.00,0.96:0.00,1.00:0.00,0.87:60,60:12.0,5.2:0,0:0,0:132,53:19,97:0,31:-,NM_033407.2(DOCK7) c.3518+432delG:-,0.31:-,NOT_FOUND 1 63000889 rs1168019 T C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.02416,C/0.9758;Gene=DOCK7/NM_001271999.1/0;CC=c.3611+275A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.3518+275A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.3518+275A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.3518+275A>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:172:19.58:15.61:3.98:1.00:1.00:1.00:60:34.4:0:0:45:105:16:NM_033407.2(DOCK7) c.3518+275A>G,NM_033407.2(DOCK7) c.3518+275A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 63001120 rs1168018 A C 53 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.4249,C/0.5751;PC=0.044;Gene=DOCK7/NM_001271999.1/0;CC=c.3611+44T>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.3518+44T>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.3518+44T>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.3518+44T>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:49:42:0:0:30,19:1001,584:0.00,53.24:0.00,39.74:0.00,13.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,32.1:0,0:0,0:68,26:83,125:46,13:-,NM_033407.2(DOCK7) c.3518+44T>G:-,0.63:-,0.570506 1 63001304 . C . . NT END=63003561;NT GT ./. 1 63003733 . C . . NT END=63005215;NT GT ./. 1 63005330 . C . . NT END=63005422;NT GT ./. 1 63005564 . C . . NT END=63008278;NT GT ./. 1 63008375 . C . . NT END=63009326;NT GT ./. 1 63009417 . C . . NT END=63010617;NT GT ./. 1 63010711 . C . . NT END=63018402;NT GT ./. 1 63010871 rs12074528 T C 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4319,C/0.5681;Gene=DOCK7/NM_001271999.1/0;CC=c.2767-161A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.2767-1455A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.2767-1455A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.2767-1455A>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,T:10:0:0:0:7,3:224,100:23.09,0.00:0.00,0.00:23.09,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.9,3.0:0,0:0,0:126,91:25,59:20,36:NM_033407.2(DOCK7) c.2767-1455A>G,-:0.62,-:NOT_FOUND,- 1 63018170 rs11207986 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4357,C/0.5643;Gene=DOCK7/NM_001271999.1/0;CC=c.2766+233A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.2766+233A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.2766+233A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.2766+233A>G;VC=Intron;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:6:6:0:0:4,2:125,66:12.75,0.00:12.75,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:43.0,27.5:0,0:0,0:24,36:126,114:14,26:NM_033407.2(DOCK7) c.2766+233A>G,-:0.62,-:NOT_FOUND,- 1 63018573 . C . . NT END=63021495;NT GT ./. 1 63018703 rs66892340 CT T,C 16 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=CT/0.4303,C/0.5697;PC=0.679;DM=DOCK7/DHR-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:CT,T,I,C:14:0:2:7:3,5,2,4:103,163,55,184:0.00,15.58,4.44,9.75:0.00,0.00,0.00,0.00:0.00,15.58,4.44,9.75:0.00,0.88,0.00,0.00:0.00,0.00,0.00,0.00:0.00,0.88,0.00,0.00:60,60,60,60:0.0,141.2,18.5,63.8:0,5,0,3:0,0,0,0:143,90,34,60:8,50,116,91:3,11,12,24:NM_033407.2(DOCK7) c.2597-131delG,NM_033407.2(DOCK7) c.2597-132delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 63021661 . C . . NT END=63024659;NT GT ./. 1 63024584 rs374596440 G GT 11 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=2;Gene=DOCK7/NM_001271999.1/0;CC=c.2431+75dupA;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.2431+75dupA;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.2431+75dupA;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.2431+75dupA;VC=Intron;DM=DOCK7/DHR-2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:G,GT,D:21:22:5:1:16,4,1:527,161,33:0.00,10.75,2.11:0.00,10.75,2.11:0.00,0.00,0.00:0.00,0.70,0.00:0.00,0.70,0.00:0.00,0.00,0.00:60,60,60:8.1,0.0,0.0:0,1,0:0,0,0:28,16,33:122,133,118:23,7,0:-,NM_033407.2(DOCK7) c.2431+75_2431+76insA:-,NOT_FOUND:-,NOT_FOUND 1 63024892 . C . . NT END=63027287;NT GT ./. 1 63027375 . C . . NT END=63042932;NT GT ./. 1 63027411 rs5774610 AG A 134 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=AG/0.02776,A/0.9722;NP=3432;Gene=DOCK7/NM_001271999.1/0;CC=c.2113-38delC;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.2113-38delC;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.2113-38delC;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.2113-38delC;VC=Intron;DM=DOCK7/DOCK-C2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:AG,A:39:17:0:37:2,37:66,1193:0.00,133.52:0.00,32.50:0.00,101.02:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,8.7:0,0:0,0:121,116:1,35:1,16:NM_033407.2(DOCK7) c.2113-38delC,NM_033407.2(DOCK7) c.2113-38delC:0.97,0.97:0.971445,0.971445 1 63042738 rs10789116 A G 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6683,G/0.3317;PC=0.586;Gene=DOCK7/NM_001271999.1/0;CC=c.2112+195T>C;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.2112+195T>C;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.2112+195T>C;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.2112+195T>C;VC=Intron;DM=DOCK7/DOCK-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:4:4:0:0:2,2:62,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:6.5,52.0:0,0:0,0:77,51:74,99:13,50:-,NM_033407.2(DOCK7) c.2112+195T>C:-,0.29:-,NOT_FOUND 1 63043035 . C . . NT END=63044498;NT GT ./. 1 63044388 rs397755235 C CA 12 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6072,CA/0.3928;DB;DBA=NA;PAF=C/0.6072,CA/0.3928;DB;DBA=NA;PAF=C/0.6072,CA/0.3928;NP=12;PC=0.011;Gene=DOCK7/NM_001271999.1/0;CC=c.2010+110_2010+111insT;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.2010+110_2010+111insT;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.2010+110_2010+111insT;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.2010+110_2010+111insT;VC=Intron;DM=DOCK7/DOCK-C2;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,CA,D:13:16:5:5:6,4,3:202,164,161:0.00,11.85,8.11:0.00,11.85,6.83:0.00,0.00,1.27:0.00,0.75,0.00:0.00,0.75,0.00:0.00,0.50,0.00:60,60,60:49.5,57.0,32.0:0,1,2:0,0,0:135,28,30:14,122,120:8,20,14:-,NM_033407.2(DOCK7) c.2010+110_2010+111insT:-,NOT_FOUND:-,NOT_FOUND 1 63044464 rs11207993 C T 56 nt VT=SNV;PN=G;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.9141,T/0.08586;Gene=DOCK7/NM_001271999.1/0;CC=c.2010+35G>A;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.2010+35G>A;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.2010+35G>A;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.2010+35G>A;VC=Intron;DM=DOCK7/DOCK-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:41:0:0:28,19:814,609:0.00,56.23:0.00,49.47:0.00,6.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,43.1:0,0:0,0:44,46:106,105:25,14:-,NM_033407.2(DOCK7) c.2010+35G>A:-,0.09:-,0.129174 1 63044638 . C . . NT END=63048854;NT GT ./. 1 63044645 rs199915737 CA C 22 idl,rn VT=DEL;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=52;PC=0.829;Gene=DOCK7/NM_001271999.1/0;CC=c.1872-9delT;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1872-9delT;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1872-9delT;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1872-9delT;VC=Intron;DM=DOCK7/DOCK-C2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,CA,G,I,C:63:42:4:17:8,41,1,4,9:146,1171,15,119,469:9.13,0.00,0.11,7.82,21.57:0.46,0.00,-0.12,4.44,7.78:8.67,0.00,0.22,3.38,13.79:0.00,0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:91.0,16.9,88.0,14.2,12.3:2,1,0,0,6:0,0,0,0,0:49,97,95,54,68:92,50,54,58,76:12,28,0,25,35:-,NM_033407.2(DOCK7) c.1872-9delT:-,NOT_FOUND:-,NOT_FOUND 1 63044902 rs10889346 T C 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.02196,C/0.978;Gene=DOCK7/NM_001271999.1/0;CC=c.1872-265A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1872-265A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1872-265A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1872-265A>G;VC=Intron;DM=DOCK7/DOCK-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:231:26.87:0.00:26.87:1.00:0.00:1.00:60:28.9:0:0:87:62:36:NM_033407.2(DOCK7) c.1872-265A>G,NM_033407.2(DOCK7) c.1872-265A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 63048926 . C . . NT END=63049775;NT GT ./. 1 63049819 rs12042319 G A 86 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.653,A/0.347;Gene=DOCK7/NM_001271999.1/0;CC=c.1801-894C>T;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1801-894C>T;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1801-894C>T;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1801-894C>T;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.*632C>T;VC=3UTR;DM=DOCK7/DOCK-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:52:0:0:29,31:901,990:85.85,0.00:70.38,0.00:15.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,5.2:0,0:0,0:58,38:92,108:46,24:NM_033407.2(DOCK7) c.1801-894C>T,-:0.3,-:NOT_FOUND,- 1 63050329 . a . . NT END=63052177;NT GT ./. 1 63052296 . C . . NT END=63063237;NT GT ./. 1 63063733 . G . . NT END=63064366;NT GT ./. 1 63064478 . G . . NT END=63066752;NT GT ./. 1 63066868 . G . . NT END=63067439;NT GT ./. 1 63067554 . G . . NT END=63067955;NT GT ./. 1 63068052 . G . . NT END=63069639;NT GT ./. 1 63069907 . G . . NT END=63070303;NT GT ./. 1 63070489 . A . . NT END=63084376;NT GT ./. 1 63070537 rs67461605 AGTTAATGTG A 42 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=AGTTAATGTG/0.6516,A/0.3484;DB;DBA=NA;PAF=AGTTAATGTG/0.6516,A/0.3484;NP=1517;PC=0.791;Gene=DOCK7/NM_001271999.1/0;CC=c.1682+13831_1682+13839delCACATTAAC;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1682+13831_1682+13839delCACATTAAC;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1682+13831_1682+13839delCACATTAAC;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1682+13831_1682+13839delCACATTAAC;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.1682+13831_1682+13839delCACATTAAC;VC=Intron;Gene=ANGPTL3/NM_014495.3/1;CC=c.*52_*60delTAATGTGGT;VC=3UTR;DM=DOCK7/DOCK-C2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTTAATGTG,A:22:11:0:13:9,13:293,425:0.00,42.25:0.00,12.58:0.00,29.67:0.00,1.00:0.00,1.00:0.00,1.00:60,70:11.1,0.7:0,0:0,0:94,107:57,43:35,15:-,NM_014495.2(ANGPTL3) c.*52_*60delTAATGTGGT:-,0.3:-,NOT_FOUND 1 63084540 . C . . NT END=63085570;NT GT ./. 1 63085483 rs78050002 T TA 22 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1262;Gene=DOCK7/NM_001271999.1/0;CC=c.1519+87dupT;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1519+87dupT;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1519+87dupT;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1519+87dupT;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.1519+87dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:T,TA:12:12:7:0:5,7:161,223:0.00,22.10:0.00,22.10:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,10.0:0,0:0,0:89,41:62,110:13,15:-,NM_033407.2(DOCK7) c.1519+87_1519+88insT:-,0.55:-,NOT_FOUND 1 63085665 . C . . NT END=63090929;NT GT ./. 1 63085941 rs41290146 A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9137,G/0.08626;PC=0.002;Gene=DOCK7/NM_001271999.1/0;CC=c.1426-277T>C;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1426-277T>C;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1426-277T>C;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1426-277T>C;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.1426-277T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,C,G:6:2:0:0:2,1,3:67,16,81:0.00,1.15,8.00:0.00,-0.08,1.54:0.00,1.23,6.47:0.00,0.00,0.73:0.00,0.00,0.79:0.00,0.00,0.96:60,60,60:9.5,136.0,80.0:0,0,0:0,0,0:130,26,49:20,125,102:9,0,19:-,NM_033407.2(DOCK7) c.1426-277T>C:-,0.09:-,NOT_FOUND 1 63086001 rs12239737 T A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6959,A/0.3041;PC=0.038;Gene=DOCK7/NM_001271999.1/0;CC=c.1426-337A>T;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1426-337A>T;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1426-337A>T;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1426-337A>T;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.1426-337A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:A,T:4:0:0:0:3,1:98,20:10.26,0.00:0.00,0.00:10.26,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:110.3,0.0:0,0:0,0:90,1:61,150:4,0:NM_033407.2(DOCK7) c.1426-337A>T,-:0.26,-:NOT_FOUND,- 1 63090858 rs6587980 C T 40 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5897,T/0.4103;Gene=DOCK7/NM_001271999.1/0;CC=c.1425+72G>A;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1425+72G>A;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1425+72G>A;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1425+72G>A;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.1425+72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:22:0:0:10,13:308,409:0.00,40.22:0.00,39.36:0.00,0.86:0.00,1.00:0.00,1.00:0.00,0.98:60,60:16.7,48.7:0,0:0,0:47,56:103,95:13,21:-,NM_033407.2(DOCK7) c.1425+72G>A:-,0.36:-,NOT_FOUND 1 63091073 . C . . NT END=63096910;NT GT ./. 1 63096781 rs12025800 C G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5639,G/0.4361;PC=0.001;Gene=DOCK7/NM_001271999.1/0;CC=c.1282+130G>C;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1282+130G>C;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1282+130G>C;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1282+130G>C;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.1282+130G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,G:15:15:0:0:4,11:121,294:0.00,30.75:0.00,30.75:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.5,33.3:0,0:0,0:74,47:76,102:13,36:-,NM_033407.2(DOCK7) c.1282+130G>C:-,0.38:-,NOT_FOUND 1 63097077 . C . . NT END=63099168;NT GT ./. 1 63099023 rs10889352 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6675,C/0.3325;Gene=DOCK7/NM_001271999.1/0;CC=c.1116+146A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.1116+146A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.1116+146A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.1116+146A>G;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.1116+146A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:C,T:7:7:0:0:6,1:171,20:18.69,0.00:18.69,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.3,34.0:0,0:0,0:41,121:110,30:28,0:NM_033407.2(DOCK7) c.1116+146A>G,-:0.29,-:NOT_FOUND,- 1 63099250 . C . . NT END=63100443;NT GT ./. 1 63100594 . C . . NT END=63102207;NT GT ./. 1 63102007 rs41290148 T G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9854,G/0.01458;Gene=DOCK7/NM_001271999.1/0;CC=c.885+201A>C;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.885+201A>C;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.885+201A>C;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.885+201A>C;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.885+201A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:G,T:6:6:0:0:3,3:92,101:8.82,0.00:8.82,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:30.7,15.3:0,0:0,0:39,83:109,67:39,43:NM_033407.2(DOCK7) c.885+201A>C,-:0.02,-:NOT_FOUND,- 1 63102275 . C . . NT END=63113361;NT GT ./. 1 63113448 . C . . NT END=63113776;NT GT ./. 1 63113511 rs746735 C A 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.4253,A/0.5747;PC=0.566;Gene=DOCK7/NM_001271999.1/0;CC=c.733-64G>T;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.733-64G>T;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.733-64G>T;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.733-64G>T;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.733-64G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:24:11:0:0:14,10:437,302:43.31,0.00:12.83,0.00:30.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,8.7:0,0:0,0:100,79:44,71:26,34:NM_033407.2(DOCK7) c.733-64G>T,-:0.63,-:NOT_FOUND,- 1 63113689 rs1168088 T C 42 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.01717,C/0.9828;Gene=DOCK7/NM_001271999.1/0;CC=c.732+88A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.732+88A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.732+88A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.732+88A>G;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.732+88A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:11:0:0:12:363:41.99:40.34:1.65:1.00:1.00:1.00:60:59.2:0:0:26:125:9:NM_033407.2(DOCK7) c.732+88A>G,NM_033407.2(DOCK7) c.732+88A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 63113719 rs1168089 T C 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4281,C/0.5719;PC=0.001;Gene=DOCK7/NM_001271999.1/0;CC=c.732+58A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.732+58A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.732+58A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.732+58A>G;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.732+58A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,T:19:17:0:0:14,5:475,166:49.42,0.00:39.90,0.00:9.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.7,19.4:0,0:0,0:44,35:106,116:22,14:NM_033407.2(DOCK7) c.732+58A>G,-:0.63,-:NOT_FOUND,- 1 63113990 . C . . NT END=63114085;NT GT ./. 1 63114216 . C . . NT END=63119395;NT GT ./. 1 63114560 rs1168090 C T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.02416,T/0.9758;Gene=DOCK7/NM_001271999.1/0;CC=c.390-345G>A;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.390-345G>A;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.390-345G>A;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.390-345G>A;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.390-345G>A;VC=Intron;DM=DOCK7/DUF3398 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:193:22.16:0.00:22.16:1.00:0.00:1.00:60:90.5:0:0:103:47:14:NM_033407.2(DOCK7) c.390-345G>A,NM_033407.2(DOCK7) c.390-345G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 63119465 . C . . NT END=63119654;NT GT ./. 1 63119831 . C . . NT END=63128695;NT GT ./. 1 63120053 rs1168096 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=208;Gene=DOCK7/NM_001271999.1/0;CC=c.145-223A>G;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.145-223A>G;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.145-223A>G;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.145-223A>G;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.145-223A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:237:27.04:0.00:27.04:1.00:0.00:1.00:60:35.6:0:0:107:41:25:NM_033407.2(DOCK7) c.145-223A>G,NM_033407.2(DOCK7) c.145-223A>G:1,1:NOT_FOUND,NOT_FOUND 1 63128802 . C . . NT END=63153897;NT GT ./. 1 63128836 rs377005796 G GA 9 rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=11;Gene=DOCK7/NM_001271999.1/0;CC=c.39-36dupT;VC=Intron;Gene=DOCK7/NM_001272000.1/0;CC=c.39-36dupT;VC=Intron;Gene=DOCK7/NM_001272001.1/0;CC=c.39-36dupT;VC=Intron;Gene=DOCK7/NM_033407.3/1;CC=c.39-36dupT;VC=Intron;Gene=DOCK7/NM_001272002.1/0;CC=c.39-36dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:A,G,T,GA,D:46:18:6:1:6,32,2,5,1:118,961,26,160,30:7.50,0.00,0.60,9.08,1.51:-0.56,0.00,-0.18,3.60,-0.09:8.06,0.00,0.78,5.48,1.60:0.00,0.00,0.00,0.73,0.00:0.00,0.00,0.00,0.77,0.00:0.00,0.00,0.00,0.96,0.00:60,60,60,70,60:73.2,18.8,153.5,60.6,108.0:0,0,0,1,0:0,0,0,0,0:35,102,67,81,128:99,39,84,66,23:21,17,39,44,0:-,NM_033407.2(DOCK7) c.39-36_39-35insT:-,NOT_FOUND:-,NOT_FOUND 1 63153936 . G . . NT END=63269457;NT GT ./. 1 63153953 rs4344355 C T 128 nt VT=SNV;PN=G;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.6745,T/0.3255;PC=0.007;Gene=DOCK7/NM_001271999.1/0;CC=c.-18G>A;VC=5UTR;Gene=DOCK7/NM_001272000.1/0;CC=c.-18G>A;VC=5UTR;Gene=DOCK7/NM_001272001.1/0;CC=c.-18G>A;VC=5UTR;Gene=DOCK7/NM_033407.3/1;CC=c.-18G>A;VC=5UTR;Gene=DOCK7/NM_001272002.1/0;CC=c.-18G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:82:42:0:0:38,1,43:1131,11,1315:0.00,-0.05,127.68:0.00,0.10,48.70:0.00,-0.15,78.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.9,69.0,40.9:0,0,0:0,0,0:113,104,105:38,47,44:18,0,23:-,NM_033407.2(DOCK7) c.-18G>A:-,0.29:-,NOT_FOUND 1 63269534 . G . . NT END=63270842;NT GT ./. 1 63270823 . C CT 10 idl,rn VT=INS;SST=Single;DP=40;NP=2;NP=5;Gene=ATG4C/NM_032852.3/0;CC=c.77-6dupT;VC=Intron;Gene=ATG4C/NM_178221.2/1;CC=c.77-6dupT;VC=Intron;DM=ATG4C/Peptidase_C54;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,CT,D:37:35:4:6:30,4,3:1018,135,182:0.00,10.04,6.84:0.00,3.28,2.02:0.00,6.76,4.82:0.00,0.59,0.00:0.00,0.92,0.00:0.00,0.79,0.00:60,60,60:28.1,2.8,55.0:0,0,3:0,0,0:62,54,38:76,87,113:37,10,30:-,NM_032852.3(ATG4C) c.77-20_77-19insT:-,NOT_FOUND:-,NOT_FOUND 1 63270927 . G . . NT END=63282245;NT GT ./. 1 63282480 . G . . NT END=63284675;NT GT ./. 1 63285007 . G . . NT END=63286809;NT GT ./. 1 63286881 . G . . NT END=63294710;NT GT ./. 1 63294848 . G . . NT END=63299708;NT GT ./. 1 63299788 . G . . NT END=63300446;NT GT ./. 1 63300524 . G . . NT END=63307098;NT GT ./. 1 63307219 . G . . NT END=63329662;NT GT ./. 1 63329831 . A . . NT END=63786676;NT GT ./. 1 63354268 rs59218909 A AGTGT 11 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1971,AGT/.,AGTGT/0.726,AGTGTGT/0.02776,AGTGTGTGT/0.04912;DB;DBA=NA;PAF=A/0.1971,AGTGT/0.726,AGTGTGTGT/0.04912;NP=3;PC=0.004;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AGTGT:5:4:5:0:1,4:34,133:0.00,10.89:0.00,3.49:0.00,7.40:0.00,0.93:0.00,0.99:0.00,0.91:60,60:0.0,2.5:0,1:0,0:139,64:12,87:0,25:-,chr1 g.63354268_63354269insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 63565725 rs5774636 A AAC 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;NP=3;NP=67;PC=0.002;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,AAC,D:5:5:2:1:2,2,1:66,68,32:0.00,6.51,2.78:0.00,3.04,1.30:0.00,3.48,1.49:0.00,0.46,0.00:0.00,0.46,0.00:0.00,0.80,0.00:60,60,60:12.5,12.5,0.0:0,0,0:0,0,0:72,90,11:79,60,95:46,8,0:-,chr1 g.63565725_63565726insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 63786862 . C . . NT END=63787033;NT GT ./. 1 63787135 . C . . NT END=63787986;NT GT ./. 1 63788137 . C . . NT END=63788438;NT GT ./. 1 63788624 . C . . NT END=63788729;NT GT ./. 1 63788951 rs2274187 C A 509 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=315;DB;DBA=NA;PAF=C/0.8822,A/0.1178;PC=0.366;Gene=FOXD3-AS1/NR_121636.1/0;VC=NonCoding;Gene=FOXD3-AS1/NR_121637.1/0;VC=NonCoding;Gene=FOXD3/NM_012183.2/1;CC=c.222C>A;ProtCh=p.P74=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:315:235:0:0:164,150,1:5251,4649,8:508.90,0.00,-0.18:300.39,0.00,-0.12:208.51,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.4,11.4,16.0:0,0,0:0,0,0:69,68,9:77,80,142:34,34,0:NM_012183.2(FOXD3) c.222C>A (p.(=)),-:0.15,-:NOT_FOUND,- 1 63790167 . G . . NT END=63836648;NT GT ./. 1 63836513 rs34542411 C G 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7947,G/0.2053;Gene=ALG6/NM_013339.3/1;CC=c.-136C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:421:48.30:48.30:0.00:1.00:1.00:0.00:60:39.5:0:0:61:90:30:NM_013339.3(ALG6) c.-136C>G,NM_013339.3(ALG6) c.-136C>G:0.21,0.21:NOT_FOUND,NOT_FOUND 1 63836731 . G . . NT END=63862183;NT GT ./. 1 63862269 . G . . NT END=63867924;NT GT ./. 1 63868015 . G . . NT END=63870123;NT GT ./. 1 63870213 . G . . NT END=63871987;NT GT ./. 1 63871881 rs1012872 A G 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5845,G/0.4155;Gene=ALG6/NM_013339.3/1;CC=c.347-107A>G;VC=Intron;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,G:7:7:0:0:4,3:131,103:0.00,9.66:0.00,9.66:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,34.3:0,0:0,0:78,35:71,116:52,28:-,NM_013339.3(ALG6) c.347-107A>G:-,0.39:-,NOT_FOUND 1 63872071 . G . . NT END=63872732;NT GT ./. 1 63872798 . G . . NT END=63876810;NT GT ./. 1 63872871 rs6588028 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.3307,G/0.6693;Gene=ALG6/NM_013339.3/1;CC=c.494+74A>G;VC=Intron;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,G:12:0:0:0:8,4:248,115:0.00,10.08:0.00,0.00:0.00,10.08:0.00,0.80:0.00,0.00:0.00,0.80:60,60:2.8,28.8:0,0:0,0:99,68:52,81:34,31:-,NM_013339.3(ALG6) c.494+74A>G:-,0.63:-,NOT_FOUND 1 63877003 . G . . NT END=63877596;NT GT ./. 1 63877130 rs12125868 G T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5853,T/0.4147;Gene=ALG6/NM_013339.3/1;CC=c.680+128G>T;VC=Intron;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:G,T:9:0:0:0:6,3:183,101:0.00,9.05:0.00,0.00:0.00,9.05:0.00,0.64:0.00,0.00:0.00,0.64:60,60:3.7,37.0:0,0:0,0:85,79:66,71:9,17:-,NM_013339.3(ALG6) c.680+128G>T:-,0.39:-,NOT_FOUND 1 63877733 . G . . NT END=63879731;NT GT ./. 1 63879818 . G . . NT END=63881543;NT GT ./. 1 63879926 . C CT 7 rn VT=INS;SST=Single;DP=17;PC=0.079;Gene=ALG6/NM_013339.3/1;CC=c.902+123_902+124insT;VC=Intron;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,T,CT,D:16:0:4:1:11,1,3,1:325,10,105,34:0.00,0.11,6.75,2.36:0.00,0.00,0.00,0.00:0.00,0.11,6.75,2.36:0.00,0.00,0.53,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.53,0.00:60,60,60,60:4.9,39.0,86.3,0.0:0,0,1,0:0,0,0,0:123,57,87,81:28,72,63,70:15,0,17,0:-,NM_013339.3(ALG6) c.902+109_902+110insT:-,NOT_FOUND:-,NOT_FOUND 1 63881349 rs71729316 GTA G 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=124;Gene=ALG6/NM_013339.3/1;CC=c.903-183_903-182delAT;VC=Intron;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:GTA,G:7:7:0:3:4,3:119,97:0.00,9.06:0.00,9.06:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:21.0,7.0:0,0:0,0:73,34:77,116:25,24:-,NM_013339.3(ALG6) c.903-194_903-193delTA:-,0.39:-,NOT_FOUND 1 63881552 rs4630153 C T 103 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=in-clinvar;PAF=C/0.1695,T/0.8305;PC=0.950;Gene=ALG6/NM_013339.3/1;CC=c.911C>T;ProtCh=p.S304F;VC=Missense;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:20:0:0:29:888:102.54:53.24:49.30:1.00:1.00:1.00:60:38.0:0:0:52:99:23:NM_013339.3(ALG6) c.911C>T (p.Ser304Phe),NM_013339.3(ALG6) c.911C>T (p.Ser304Phe):0.78,0.78:0.736996,0.736996 1 63881629 . G . . NT END=63885040;NT GT ./. 1 63885112 . G . . NT END=63894403;NT GT ./. 1 63894159 rs2941737 T G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6066,G/0.3934;Gene=ALG6/NM_013339.3/1;CC=c.1059-245T>G;VC=Intron;DM=ALG6/Alg6_Alg8;DM=ALG6/Alg6_Alg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:G,T:4:4:0:0:3,1:74,9:7.87,0.00:7.87,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:60.0,113.0:0,0:0,0:48,109:103,40:25,0:NM_013339.3(ALG6) c.1059-245T>G,-:0.37,-:NOT_FOUND,- 1 63894473 . G . . NT END=63894598;NT GT ./. 1 63894798 . G . . NT END=63902493;NT GT ./. 1 63902692 . C . . NT END=63912477;NT GT ./. 1 63912528 . C . . NT END=63919588;NT GT ./. 1 63912563 rs3838450 ACAATT A 17 sb,nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=ACAATT/0.6108,A/0.3892;DB;DBA=NA;PAF=ACAATT/0.6108,A/0.3892;NP=1737;PC=0.006;Gene=ITGB3BP/NM_001206739.1/1;CC=c.602-41_602-37delAATTG;VC=Intron;Gene=ITGB3BP/NM_014288.4/0;CC=c.485-41_485-37delAATTG;VC=Intron;Gene=ITGB3BP/NR_045147.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:ACAATT,A:22:9:0:6:16,6:524,197:0.00,16.96:0.00,0.83:0.00,16.14:0.00,0.93:0.00,0.91:0.00,0.99:60,60:6.0,2.0:0,0:0,0:98,98:35,49:29,12:-,NM_001206739.1(ITGB3BP) c.602-41_602-37delAATTG:-,0.37:-,NOT_FOUND 1 63919646 . C . . NT END=63920050;NT GT ./. 1 63920145 . C . . NT END=63920560;NT GT ./. 1 63920640 . C . . NT END=63944434;NT GT ./. 1 63944505 . C . . NT END=63955753;NT GT ./. 1 63955594 rs2271365 T C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6717,C/0.3283;PC=1.000;Gene=ITGB3BP/NM_001206739.1/1;CC=c.301+160A>G;VC=Intron;Gene=ITGB3BP/NM_014288.4/0;CC=c.184+160A>G;VC=Intron;Gene=ITGB3BP/NR_045147.1/0;VC=NonCoding;DM=ITGB3BP/CENP-R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:C,T:6:6:0:0:4,2:130,43:13.27,0.00:13.27,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:48.2,37.0:0,0:0,0:58,49:92,101:8,4:NM_001206739.1(ITGB3BP) c.301+160A>G,-:0.37,-:NOT_FOUND,- 1 63955890 . C . . NT END=63974198;NT GT ./. 1 63956149 rs72679056 G T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9796,T/0.02037;Gene=ITGB3BP/NM_001206739.1/1;CC=c.166-260C>A;VC=Intron;Gene=ITGB3BP/NM_014288.4/0;CC=c.49-260C>A;VC=Intron;Gene=ITGB3BP/NR_045147.1/0;VC=NonCoding;DM=ITGB3BP/CENP-R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T:4:0:0:0:1,3:33,96:0.00,10.05:0.00,0.00:0.00,10.05:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,39.3:0,0:0,0:138,110:13,41:0,17:-,NM_001206739.1(ITGB3BP) c.166-260C>A:-,0.02:-,NOT_FOUND 1 63957860 rs71959006 CTGTG C 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;Gene=ITGB3BP/NM_001206739.1/1;CC=c.166-1975_166-1972delCACA;VC=Intron;Gene=ITGB3BP/NM_014288.4/0;CC=c.49-1975_49-1972delCACA;VC=Intron;Gene=ITGB3BP/NR_045147.1/0;VC=NonCoding;DM=ITGB3BP/CENP-R;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CTGTG,C:4:4:0:3:1,3:35,103:0.00,10.75:0.00,5.08:0.00,5.68:0.00,0.85:0.00,0.85:0.00,0.99:60,70:0.0,0.0:0,0:0,0:119,55:28,63:0,25:-,NM_001206739.1(ITGB3BP) c.166-1975_166-1972delCACA:-,NOT_FOUND:-,NOT_FOUND 1 63974242 . C . . NT END=63988799;NT GT ./. 1 63988484 rs7413854 C T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.04113,T/0.9589;Gene=ITGB3BP/NM_001206739.1/1;CC=c.5+316G>A;VC=Intron;Gene=ITGB3BP/NM_014288.4/0;CC=c.5+316G>A;VC=Intron;Gene=ITGB3BP/NR_045147.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:194:22.26:22.26:0.00:1.00:1.00:0.00:60:32.3:0:0:36:114:9:NM_001206739.1(ITGB3BP) c.5+316G>A,NM_001206739.1(ITGB3BP) c.5+316G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 63988805 . T . . NT END=63991243;NT GT ./. 1 63991140 rs9436686 T C 86 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.0627,C/0.9373;Gene=EFCAB7/NM_032437.3/1;CC=c.-1-103T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:25:0:0:25:746:86.41:84.47:1.94:1.00:1.00:1.00:60:43.0:0:0:65:86:37:NM_032437.2(EFCAB7) c.-1-103T>C,NM_032437.2(EFCAB7) c.-1-103T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 63991267 rs217478 T C 136 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.5982,C/0.4018;PC=0.068;Gene=EFCAB7/NM_032437.3/1;CC=c.24T>C;ProtCh=p.D8=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:62:0:0:43,32:1373,1052:135.55,0.00:98.72,0.00:36.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,7.8:0,0:0,0:53,36:82,114:29,29:NM_032437.2(EFCAB7) c.24T>C (p.(=)),-:0.38,-:0.32139,- 1 63991431 . G . . NT END=63997490;NT GT ./. 1 63997703 . G . . NT END=63998340;NT GT ./. 1 63998428 . G . . NT END=63999124;NT GT ./. 1 63999087 rs217454 T C 60 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.5982,C/0.4018;PC=0.592;Gene=EFCAB7/NM_032437.3/1;CC=c.487-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:37:35:0:0:19,1,17:618,10,540:60.06,0.03,0.00:42.83,0.08,0.00:17.22,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,76.0,12.8:0,0,0:0,0,0:43,82,47:108,69,104:17,0,27:NM_032437.2(EFCAB7) c.487-38T>C,-:0.38,-:0.320274,- 1 63999321 . G . . NT END=63999765;NT GT ./. 1 63999474 rs217453 T G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5984,G/0.4016;PC=0.029;Gene=EFCAB7/NM_032437.3/1;CC=c.682+154T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:G,T:9:4:0:0:3,6:102,160:9.15,0.00:2.68,0.00:6.47,0.00:0.64,0.00:0.81,0.00:0.86,0.00:60,60:45.0,14.3:0,0:0,0:69,92:82,58:3,31:NM_032437.2(EFCAB7) c.682+154T>G,-:0.38,-:NOT_FOUND,- 1 63999888 . G . . NT END=64011586;NT GT ./. 1 64011402 . A G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;Gene=EFCAB7/NM_032437.3/1;CC=c.805-185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:A,G:10:10:0:0:4,6:140,170:0.00,16.94:0.00,16.94:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:8.5,28.3:0,0:0,0:64,50:86,100:20,40:-,NM_032437.2(EFCAB7) c.805-185A>G:-,NOT_FOUND:-,NOT_FOUND 1 64011729 . G . . NT END=64017395;NT GT ./. 1 64017234 rs217484 G C 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3169,C/0.6831;Gene=EFCAB7/NM_032437.3/1;CC=c.947-162G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:C,G:7:7:0:0:5,2:172,44:17.80,0.00:17.80,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:34.4,22.5:0,0:0,0:85,73:66,76:11,58:NM_032437.2(EFCAB7) c.947-162G>C,-:0.64,-:NOT_FOUND,- 1 64017262 rs35587501 GA G 18 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=305;PC=0.633;Gene=EFCAB7/NM_032437.3/1;CC=c.947-123delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:GA,G:10:10:0:6:4,6:134,182:0.00,18.14:0.00,18.14:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:16.8,26.2:0,0:0,0:33,103:118,47:20,15:-,NM_032437.2(EFCAB7) c.947-133delA:-,NOT_FOUND:-,NOT_FOUND 1 64017377 rs370255098 CT C 9 rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=125;PC=0.605;Gene=EFCAB7/NM_032437.3/1;CC=c.947-9delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:CT,I,C:45:40:2:4:39,2,4:1277,61,124:0.00,3.59,8.53:0.00,2.81,5.38:0.00,0.78,3.16:0.00,0.00,0.57:0.00,0.00,0.92:0.00,0.00,0.70:60,60,60:12.2,0.0,6.5:0,0,0:0,0,0:51,97,35:95,52,115:29,16,7:-,NM_032437.2(EFCAB7) c.947-18delT:-,NOT_FOUND:-,NOT_FOUND 1 64017506 . G . . NT END=64021028;NT GT ./. 1 64021187 . G . . NT END=64022784;NT GT ./. 1 64022708 rs370519043 C CA 7 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;PC=0.001;Gene=EFCAB7/NM_032437.3/1;CC=c.1215-61_1215-60insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,CA,D:19:20:3:4:14,3,2:433,95,125:0.00,7.46,4.31:0.00,7.56,3.34:0.00,-0.10,0.97:0.00,0.49,0.00:0.00,0.90,0.00:0.00,0.42,0.00:60,60,60:17.0,17.3,44.0:0,0,2:0,0,0:28,36,25:123,115,125:22,26,10:-,NM_032437.2(EFCAB7) c.1215-77_1215-76insA:-,NOT_FOUND:-,NOT_FOUND 1 64022919 . G . . NT END=64027379;NT GT ./. 1 64027529 . G . . NT END=64033980;NT GT ./. 1 64034191 . G . . NT END=64036691;NT GT ./. 1 64036800 . G . . NT END=64038112;NT GT ./. 1 64038365 . T . . NT END=64059159;NT GT ./. 1 64059406 . G . . NT END=64059479;NT GT ./. 1 64059644 rs217490 C G 560 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.1681,G/0.8319;Gene=PGM1/NM_002633.2/1;CC=c.246+239C>G;VC=Intron;Gene=PGM1/NM_001172819.1/0;CC=c.-517C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:159:91:0:0:159:4846:559.74:227.66:332.08:1.00:1.00:1.00:60:39.9:0:0:75:71:41:NM_002633.2(PGM1) c.246+239C>G,NM_002633.2(PGM1) c.246+239C>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 64059816 . G . . NT END=64088886;NT GT ./. 1 64059863 rs61003960 T A 84 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.8528,A/0.1472;Gene=PGM1/NM_002633.2/1;CC=c.246+458T>A;VC=Intron;Gene=PGM1/NM_001172819.1/0;CC=c.-346+48T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:51:17:0:0:29,1,1,20:846,9,9,593:83.95,-0.03,-0.03,0.00:22.74,-0.03,-0.03,0.00:61.21,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:37.1,20.0,86.0,19.4:0,0,0,0:0,0,0,0:102,91,3,116:49,51,148,34:29,0,0,19:NM_002633.2(PGM1) c.246+458T>A,-:0.14,-:NOT_FOUND,- 1 64070630 rs534157275 G T,GTT 10 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:T,GTT:4:3:4:0:1,3:34,124:3.18,9.96:0.00,3.20:3.18,6.76:0.00,0.78:0.00,0.94:0.00,0.97:60,70:34.0,12.0:0,1:0,0:56,98:79,37:0,27:NM_002633.2(PGM1) c.246+11225G>T,NM_002633.2(PGM1) c.246+11225_246+11226insTT:0.38,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 64089432 . G . . NT END=64095095;NT GT ./. 1 64095259 . G . . NT END=64095612;NT GT ./. 1 64095760 . G . . NT END=64097327;NT GT ./. 1 64097454 . G . . NT END=64100499;NT GT ./. 1 64100478 rs6588052 A T 73 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.4998,T/0.5002;PC=0.205;Gene=PGM1/NM_002633.2/1;CC=c.683-22A>T;VC=Intron;Gene=PGM1/NM_001172819.1/0;CC=c.92-22A>T;VC=Intron;Gene=PGM1/NM_001172818.1/0;CC=c.737-22A>T;VC=Intron;DM=PGM1/PGM_PMM_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:40:0:0:24,22:811,764:0.00,73.07:0.00,62.35:0.00,10.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,40.5:0,0:0,0:49,51:93,92:27,26:-,NM_002633.2(PGM1) c.683-22A>T:-,0.52:-,0.423497 1 64100691 . G . . NT END=64101904;NT GT ./. 1 64100884 rs2301057 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5266,G/0.4734;Gene=PGM1/NM_002633.2/1;CC=c.873+194A>G;VC=Intron;Gene=PGM1/NM_001172819.1/0;CC=c.282+194A>G;VC=Intron;Gene=PGM1/NM_001172818.1/0;CC=c.927+194A>G;VC=Intron;DM=PGM1/PGM_PMM_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:5:0:0:0:2,3:68,93:0.00,9.27:0.00,0.00:0.00,9.27:0.00,0.78:0.00,0.00:0.00,0.78:60,60:6.0,65.0:0,0:0,0:66,122:84,29:4,6:-,NM_002633.2(PGM1) c.873+194A>G:-,0.5:-,NOT_FOUND 1 64102060 . G . . NT END=64104355;NT GT ./. 1 64102114 rs2269248 A G 77 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.506,G/0.494;Gene=PGM1/NM_002633.2/1;CC=c.1028+55A>G;VC=Intron;Gene=PGM1/NM_001172819.1/0;CC=c.437+55A>G;VC=Intron;Gene=PGM1/NM_001172818.1/0;CC=c.1082+55A>G;VC=Intron;DM=PGM1/PGM_PMM_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:52:21:0:0:25,1,25,1:773,12,804,10:0.00,0.05,77.27,-0.03:0.00,-0.05,20.78,-0.05:0.00,0.10,56.49,0.02:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:5.5,65.0,39.9,69.0:0,0,0,0:0,0,0,0:105,25,110,109:35,126,41,42:22,0,27,0:-,NM_002633.2(PGM1) c.1028+55A>G:-,0.51:-,NOT_FOUND 1 64104472 . G . . NT END=64114187;NT GT ./. 1 64114324 . G . . NT END=64117339;NT GT ./. 1 64117524 . G . . NT END=64120002;NT GT ./. 1 64120138 . G . . NT END=64125256;NT GT ./. 1 64125347 . G . . NT END=64240088;NT GT ./. 1 64240180 . G . . NT END=64474976;NT GT ./. 1 64342354 rs10889452 C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8638,T/0.1362;NP=70;PC=0.006;Gene=ROR1/NM_001083592.1/0;CC=c.91+102175C>T;VC=Intron;Gene=ROR1/NM_005012.3/1;CC=c.91+102175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T:6:5:0:0:2,4:59,137:0.00,13.95:0.00,6.83:0.00,7.13:0.00,0.93:0.00,0.99:0.00,0.99:60,60:90.0,51.5:0,0:0,0:44,79:106,55:1,20:-,NM_005012.3(ROR1) c.91+102175C>T:-,NOT_FOUND:-,NOT_FOUND 1 64473049 rs59753220 A AGTGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=32;NP=7;NP=8;Gene=ROR1/NM_001083592.1/0;CC=c.92-1896_92-1895insGTGTGT;VC=Intron;Gene=ROR1/NM_005012.3/1;CC=c.92-1896_92-1895insGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,AGTGTGT:4:4:2:0:2,2:64,68:0.00,6.55:0.00,4.76:0.00,1.79:0.00,0.51:0.00,0.51:0.00,0.67:60,60:0.0,6.0:0,0:0,0:114,61:33,89:2,10:-,NM_005012.3(ROR1) c.92-1928_92-1927insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 64473138 rs285394 A C 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2923,C/0.7077;Gene=ROR1/NM_001083592.1/0;CC=c.92-1839A>C;VC=Intron;Gene=ROR1/NM_005012.3/1;CC=c.92-1839A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:146:16.96:6.76:10.19:1.00:1.00:1.00:60:33.8:0:0:78:72:20:NM_005012.3(ROR1) c.92-1839A>C,NM_005012.3(ROR1) c.92-1839A>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 64474804 rs285399 C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3373,T/0.6627;Gene=ROR1/NM_001083592.1/0;CC=c.92-173C>T;VC=Intron;Gene=ROR1/NM_005012.3/1;CC=c.92-173C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:5:0:0:5:117:14.02:14.02:0.00:1.00:1.00:0.00:60:64.4:0:0:52:99:32:NM_005012.3(ROR1) c.92-173C>T,NM_005012.3(ROR1) c.92-173C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 64475049 . G . . NT END=64515362;NT GT ./. 1 64515379 rs1772626 C T 281 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.2212,T/0.7788;Gene=ROR1/NM_001083592.1/0;CC=c.180C>T;ProtCh=p.L60=;VC=Silent;Gene=ROR1/NM_005012.3/1;CC=c.180C>T;ProtCh=p.L60=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:77:63:0:0:77:2441:280.63:188.01:92.62:1.00:1.00:1.00:60:37.6:0:0:60:87:34:NM_005012.3(ROR1) c.180C>T (p.(=)),NM_005012.3(ROR1) c.180C>T (p.(=)):0.81,0.81:0.779794,0.779794 1 64515651 . G . . NT END=64516357;NT GT ./. 1 64516389 . G . . NT END=64603051;NT GT ./. 1 64603180 . G . . NT END=64605791;NT GT ./. 1 64606110 . G . . NT END=64608087;NT GT ./. 1 64608329 rs2762833 G T 467 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ROR1/NM_001083592.1/0;CC=c.1170G>T;ProtCh=p.A390=;VC=Silent;Gene=ROR1/NM_005012.3/1;CC=c.1170G>T;ProtCh=p.A390=;VC=Silent;DM=ROR1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:124:59:0:0:124:4078:466.85:177.28:289.57:1.00:1.00:1.00:60:39.8:0:0:82:64:35:NM_005012.3(ROR1) c.1170G>T (p.(=)),NM_005012.3(ROR1) c.1170G>T (p.(=)):0.9,0.9:NOT_FOUND,NOT_FOUND 1 64609050 . GA G 26 idl,rn VT=DEL;SST=Single;DP=55;NP=1;Gene=ROR1/NM_001083592.1/0;CC=c.*711+11delA;VC=3UTR;Gene=ROR1/NM_005012.3/1;CC=c.1174+730delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:55:38:4:11:3,38,4,10:77,1220,133,321:4.59,0.00,9.42,26.17:-0.52,0.00,5.85,18.79:5.11,0.00,3.57,7.38:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,70:41.0,27.7,0.0,11.5:0,1,0,0:0,0,0,0:24,70,66,29:117,78,83,114:2,45,5,25:-,NM_005012.3(ROR1) c.1174+718delA:-,NOT_FOUND:-,NOT_FOUND 1 64609064 . G . . NT END=64624663;NT GT ./. 1 64624612 rs4362024 G A 152 nt VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.03934,A/0.9607;PC=0.001;Gene=ROR1/NM_005012.3/1;CC=c.1175-52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:A:44:43:0:0:44:1309:151.59:134.65:16.95:1.00:1.00:1.00:60:45.1:0:0:46:100:26:NM_005012.3(ROR1) c.1175-52G>A,NM_005012.3(ROR1) c.1175-52G>A:0.97,0.97:0.962853,0.962853 1 64624876 . G . . NT END=64643110;NT GT ./. 1 64643277 rs7527017 C T 116 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.7568,A/.,T/0.2432;PC=0.953;Gene=ROR1/NM_005012.3/1;CC=c.1553C>T;ProtCh=p.T518M;VC=Missense;DM=ROR1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:40:0:0:38,39:1139,1207:0.00,116.13:0.00,58.53:0.00,57.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,41.4:0,0:0,0:69,69:80,78:25,44:-,NM_005012.3(ROR1) c.1553C>T (p.Thr518Met):-,0.28:-,0.246271 1 64644539 . A . . NT END=64669733;NT GT ./. 1 64669567 rs2806529 A T 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5978,T/0.4022;Gene=UBE2U/NM_152489.1/1;CC=c.-167A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:22:22:0:0:11,11:338,339:0.00,32.51:0.00,32.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.8,51.5:0,0:0,0:63,38:86,113:33,21:-,NM_152489.1(UBE2U) c.-167A>T:-,0.43:-,NOT_FOUND 1 64669800 . G . . NT END=64671321;NT GT ./. 1 64671404 . G . . NT END=64672446;NT GT ./. 1 64672478 rs35112334 A G 44 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.9898,G/0.01018;PC=0.024;Gene=UBE2U/NM_152489.1/1;CC=c.180A>G;ProtCh=p.T60=;VC=Silent;DM=UBE2U/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:19:0:0:15,15:469,460:0.00,44.11:0.00,28.93:0.00,15.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,32.3:0,0:0,0:109,69:42,80:35,26:-,NM_152489.1(UBE2U) c.180A>G (p.(=)):-,0.01:-,0.022101 1 64672540 . G . . NT END=64676424;NT GT ./. 1 64676523 . G . . NT END=64680497;NT GT ./. 1 64680616 . G . . NT END=64686541;NT GT ./. 1 64680682 rs825174 C G 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.2532,G/0.7468;Gene=UBE2U/NM_152489.1/1;CC=c.457+67C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:36:4:0:0:1,13,22:8,437,685:-0.01,0.00,68.94:-0.01,0.00,9.45:-0.00,0.00,59.48:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:18,60,60:249.0,4.8,54.7:0,0,0:0,0,0:67,83,83:79,65,63:0,36,34:-,NM_152489.1(UBE2U) c.457+67C>G:-,0.71:-,NOT_FOUND 1 64680755 rs825173 A G 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.7596,G/0.2404;PC=0.029;Gene=UBE2U/NM_152489.1/1;CC=c.457+140A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:0:0:0:7,15:223,469:0.00,48.06:0.00,0.00:0.00,48.06:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.0,89.5:0,0:0,0:73,108:77,42:42,35:-,NM_152489.1(UBE2U) c.457+140A>G:-,0.19:-,NOT_FOUND 1 64680804 rs825172 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7594,T/0.2406;PC=0.009;Gene=UBE2U/NM_152489.1/1;CC=c.457+189C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,T:13:0:0:0:6,7:161,224:0.00,21.86:0.00,0.00:0.00,21.86:0.00,0.99:0.00,0.00:0.00,0.99:60,60:20.5,77.3:0,0:0,0:91,91:59,59:26,27:-,NM_152489.1(UBE2U) c.457+189C>T:-,0.19:-,NOT_FOUND 1 64686591 . G . . NT END=64698243;NT GT ./. 1 64698032 rs825183 T A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2378,A/0.7622;PC=0.002;Gene=UBE2U/NM_152489.1/1;CC=c.507-212T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,T:6:6:0:0:4,2:130,67:13.25,0.00:13.25,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:51.0,71.5:0,0:0,0:22,33:128,117:8,17:NM_152489.1(UBE2U) c.507-212T>A,-:0.73,-:NOT_FOUND,- 1 64698333 . G . . NT END=64707334;NT GT ./. 1 64707243 rs825189 G C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3598,C/0.6402;Gene=UBE2U/NM_152489.1/1;CC=c.596-92G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:C,G:12:12:0:0:5,7:168,232:15.65,0.00:15.76,0.00:-0.12,0.00:0.92,0.00:0.92,0.00:0.61,0.00:60,60:50.0,7.9:0,0:0,0:108,66:42,84:9,22:NM_152489.1(UBE2U) c.596-92G>C,-:0.63,-:NOT_FOUND,- 1 64707417 . G . . NT END=64709812;NT GT ./. 1 64710028 . t . . NT END=64726285;NT GT ./. 1 64726378 . G . . NT END=64732706;NT GT ./. 1 64726414 rs705542 A C 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.3978,C/0.6022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:16:0:0:17,25:564,829:0.00,82.48:0.00,20.98:0.00,61.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,39.2:0,0:0,0:104,104:46,42:26,27:-,chr1 g.64726413A>C (intergenic):-,0.61:-,NOT_FOUND 1 64732892 . G . . NT END=64936580;NT GT ./. 1 64850061 rs148104540 CTTTTTT C 18 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:5:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:34.6:0:0:36:115:7:chr1 g.64850062_64850067delTTTTTT (intergenic),chr1 g.64850062_64850067delTTTTTT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 64850070 rs202084882 C G,CCCCCCG 18 idl;end,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4844,G/0.5156;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:20:G,CCCCCCG:6:6:5:0:1,5:29,160:2.60,17.99:2.60,17.99:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:29.0,34.6:0,10:0,0:0,39:122,112:0,7:chr1 g.64850069C>G (intergenic),chr1 g.64850070_64850071insCCCCCG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 64936626 . G . . NT END=65016276;NT GT ./. 1 64952052 rs3078376 TAC T,TACAC 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=47;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:42:TAC,TACAC,T:5:4:2:2:1,2,2:24,67,65:0.00,6.64,6.44:0.00,5.12,6.66:0.00,1.52,-0.22:0.00,0.46,0.00:0.00,0.87,0.00:0.00,0.70,0.00:60,60,60:40.0,17.0,30.5:0,0,0:0,0,0:37,30,28:114,92,115:0,13,11:NM_020925.2(CACHD1) c.45+15428_45+15429delAC,NM_020925.2(CACHD1) c.45+15428_45+15429dupAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 64971286 rs4347243 G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=CACHD1/NM_020925.2/1;CC=c.45+34661G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,G:5:0:0:0:3,2:91,56:9.07,0.00:0.00,0.00:9.07,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:30.3,18.5:0,0:0,0:40,108:11,42:0,4:NM_020925.2(CACHD1) c.45+34661G>A,-:0.59,-:NOT_FOUND,- 1 65016340 . G . . NT END=65047838;NT GT ./. 1 65016349 rs2164571 A T 46 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.08427,T/0.9157;Gene=CACHD1/NM_020925.2/1;CC=c.108+10A>T;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.-483+10A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:20:0:0:13,14:413,471:0.00,45.67:0.00,20.89:0.00,24.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,37.1:0,0:0,0:107,107:38,38:12,9:-,NM_020925.2(CACHD1) c.108+10A>T:-,0.93:-,0.892235 1 65047988 . G . . NT END=65068488;NT GT ./. 1 65068596 . G . . NT END=65095037;NT GT ./. 1 65068638 rs6665437 T C 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.01218,C/0.9878;Gene=CACHD1/NM_020925.2/1;CC=c.364+43T>C;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.-227+43T>C;VC=Intron;DM=CACHD1/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:5:0:0:28:800:93.21:11.03:82.18:1.00:1.00:1.00:60:36.8:0:0:109:40:27:NM_020925.2(CACHD1) c.364+43T>C,NM_020925.2(CACHD1) c.364+43T>C:0.99,0.99:0.984738,0.984738 1 65094815 rs1436754 A C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3083,C/0.6917;Gene=CACHD1/NM_020925.2/1;CC=c.365-223A>C;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.-226-223A>C;VC=Intron;DM=CACHD1/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:222:25.53:25.53:0.00:1.00:1.00:0.00:60:49.9:0:0:47:104:14:NM_020925.2(CACHD1) c.365-223A>C,NM_020925.2(CACHD1) c.365-223A>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 65095165 . G . . NT END=65098281;NT GT ./. 1 65098148 rs893080 T C 104 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.1144,C/0.8856;Gene=CACHD1/NM_020925.2/1;CC=c.492-134T>C;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.-99-1579T>C;VC=Intron;DM=CACHD1/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:28:0:0:28:905:103.82:103.82:0.00:1.00:1.00:0.00:60:45.4:0:0:39:111:29:NM_020925.2(CACHD1) c.492-134T>C,NM_020925.2(CACHD1) c.492-134T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 65098309 rs61731122 G A 134 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.991,A/0.008986;Gene=CACHD1/NM_020925.2/1;CC=c.519G>A;ProtCh=p.P173=;VC=Silent;Gene=CACHD1/NM_001293274.1/0;CC=c.-99-1418G>A;VC=Intron;DM=CACHD1/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:66:0:0:45,45:1396,1471:133.89,0.00:84.20,0.00:49.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.7,3.4:0,0:0,0:67,54:80,97:37,31:NM_020925.2(CACHD1) c.519G>A (p.(=)),-:0.01,-:0.024077,- 1 65098427 . G . . NT END=65099726;NT GT ./. 1 65099701 . G GT 8 idl,rn VT=INS;SST=Single;DP=37;NP=134;NP=3;Gene=CACHD1/NM_020925.2/1;CC=c.637-12dupT;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.-99-12dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:G,T,GT,D:35:33:5:3:28,1,4,2:868,9,149,95:0.00,-0.15,8.36,3.85:0.00,-0.09,6.15,4.02:0.00,-0.06,2.22,-0.17:0.00,0.00,0.60,0.00:0.00,0.00,0.93,0.00:0.00,0.00,0.67,0.00:60,60,60,60:22.5,46.0,24.2,21.0:0,0,1,1:0,0,0,0:45,107,30,57:104,15,97,84:38,0,18,42:-,NM_020925.2(CACHD1) c.637-26_637-25insT:-,NOT_FOUND:-,NOT_FOUND 1 65099944 . G . . NT END=65107502;NT GT ./. 1 65099978 rs2118102 G A 145 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.07847,A/0.9215;Gene=CACHD1/NM_020925.2/1;CC=c.853+35G>A;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.118+35G>A;VC=Intron;DM=CACHD1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:13:0:0:42:1250:144.86:27.29:117.57:1.00:1.00:1.00:60:42.8:0:0:83:67:40:NM_020925.2(CACHD1) c.853+35G>A,NM_020925.2(CACHD1) c.853+35G>A:0.93,0.93:0.916193,0.916193 1 65100057 rs116590479 G GTATT 33 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.9892,T/0.01078;NP=1;NP=21;PC=0.869;Gene=CACHD1/NM_020925.2/1;CC=c.853+117_853+118insTTAT;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.118+117_118+118insTTAT;VC=Intron;DM=CACHD1/VWA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTATT:26:0:11:0:15,11:478,357:0.00,33.26:0.00,0.00:0.00,33.26:0.00,1.00:0.00,0.00:0.00,1.00:60,60:61.9,44.5:0,0:0,0:140,48:11,103:9,21:-,NM_020925.2(CACHD1) c.853+114_853+115insTATT:-,NOT_FOUND:-,NOT_FOUND 1 65100061 rs71056058 G T 86 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.04413,T/0.9559;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.736;Gene=CACHD1/NM_020925.2/1;CC=c.853+118G>T;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.118+118G>T;VC=Intron;DM=CACHD1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:0:0:0:25:744:86.22:0.00:86.22:1.00:0.00:1.00:60:55.2:0:0:119:29:26:NM_020925.2(CACHD1) c.853+118G>T,NM_020925.2(CACHD1) c.853+118G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 65106424 rs71056062 TTATATATATATA T 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=623;PC=0.066;Gene=CACHD1/NM_020925.2/1;CC=c.854-1065_854-1054delATATATATATAT;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.119-1065_119-1054delATATATATATAT;VC=Intron;DM=CACHD1/VWA;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:TTATATATATATA,T:6:3:0:3:3,3:76,93:0.00,8.94:0.00,4.46:0.00,4.48:0.00,0.73:0.00,0.89:0.00,0.96:60,60:68.3,37.3:0,0:0,0:128,49:7,91:4,3:-,NM_020925.2(CACHD1) c.854-1078_854-1067delTATATATATATA:-,0.97:-,NOT_FOUND 1 65107372 rs6664905 C T 33 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.01957,T/0.9804;Gene=CACHD1/NM_020925.2/1;CC=c.854-131C>T;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.119-131C>T;VC=Intron;DM=CACHD1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G,T:10:9:0:0:1,9:10,287:0.56,32.58:0.00,32.58:0.56,0.00:0.00,1.00:0.00,1.00:0.00,0.93:60,60:145.0,40.3:0,0:0,0:11,94:140,56:0,19:NM_020925.2(CACHD1) c.854-131C>T,NM_020925.2(CACHD1) c.854-131C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 65107653 . G . . NT END=65113483;NT GT ./. 1 65107850 rs893074 T C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.009585,C/0.9904;Gene=CACHD1/NM_020925.2/1;CC=c.1003+198T>C;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.268+198T>C;VC=Intron;DM=CACHD1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:174:20.26:0.00:20.26:1.00:0.00:1.00:60:31.0:0:0:73:78:28:NM_020925.2(CACHD1) c.1003+198T>C,NM_020925.2(CACHD1) c.1003+198T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 65113351 rs7534210 T C 77 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.001997,C/0.998;NP=1375;Gene=CACHD1/NM_020925.2/1;CC=c.1004-133T>C;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.269-133T>C;VC=Intron;DM=CACHD1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:22:0:0:22:667:77.16:77.16:0.00:1.00:1.00:0.00:60:42.4:0:0:61:89:41:NM_020925.2(CACHD1) c.1004-133T>C,NM_020925.2(CACHD1) c.1004-133T>C:1,1:NOT_FOUND,NOT_FOUND 1 65113568 rs6588100 T C 399 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=T/0.002196,C/0.9978,G/.;NP=2;NP=3466;PC=0.001;Gene=CACHD1/NM_020925.2/1;CC=c.1088T>C;ProtCh=p.M363T;VC=Missense;Gene=CACHD1/NM_001293274.1/0;CC=c.353T>C;ProtCh=p.M118T;VC=Missense;DM=CACHD1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:111:80:0:0:111:3464:399.09:204.53:194.56:1.00:1.00:1.00:60:35.9:1:0:91:57:37:NM_020925.2(CACHD1) c.1088T>C (p.Met363Thr),NM_020925.2(CACHD1) c.1088T>C (p.Met363Thr):1,1:0.996617,0.996617 1 65113718 . G . . NT END=65117843;NT GT ./. 1 65113780 rs557724773 C T 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=2;Gene=CACHD1/NM_020925.2/1;CC=c.1237+63C>T;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.502+63C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:2:0:0:11,10:297,284:0.00,26.85:0.00,1.64:0.00,25.21:0.00,1.00:0.00,0.77:0.00,1.00:60,60:8.2,56.7:0,0:0,0:70,113:80,38:36,19:-,NM_020925.2(CACHD1) c.1237+63C>T:-,NOT_FOUND:-,NOT_FOUND 1 65117994 . G . . NT END=65119440;NT GT ./. 1 65119565 . G . . NT END=65120368;NT GT ./. 1 65120487 . G . . NT END=65124387;NT GT ./. 1 65124557 . G . . NT END=65129377;NT GT ./. 1 65129233 rs549007228 GA G 10 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=GA/0.5228,G/0.4772;DB;DBA=NA;PAF=GA/0.5228,G/0.4772;NP=35;PC=0.001;Gene=CACHD1/NM_020925.2/1;CC=c.1799-130delA;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.1064-130delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:GA,I,G:24:26:2:6:18,2,4:581,52,198:0.00,3.31,10.45:0.00,3.31,10.45:0.00,0.00,0.00:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.00:60,60,60:22.6,63.5,2.8:0,0,2:0,0,0:43,6,58:108,144,92:25,4,29:-,NM_020925.2(CACHD1) c.1799-144delA:-,NOT_FOUND:-,NOT_FOUND 1 65129521 . G . . NT END=65130180;NT GT ./. 1 65130363 . G . . NT END=65131739;NT GT ./. 1 65131851 . G . . NT END=65137246;NT GT ./. 1 65137370 . G . . NT END=65138840;NT GT ./. 1 65138787 rs530163511 G GA 17 idl,rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.5284,GA/0.4381,GAA/0.03355;DB;DBA=NA;PAF=G/0.5284,GA/0.4381;DB;DBA=NA;PAF=G/0.5284,GA/0.4381,GAA/0.03355;NP=156;Gene=CACHD1/NM_020925.2/1;CC=c.2358-41dupA;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.1623-41dupA;VC=Intron;DM=CACHD1/Cache_1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,G,GA,D:38:31:7:5:3,23,7,5:54,719,211,165:2.88,0.00,17.27,13.08:1.97,0.00,10.32,13.44:0.92,0.00,6.95,-0.36:0.00,0.00,0.94,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.91,0.00:60,60,60,60:32.7,9.5,34.0,0.0:0,0,0,0:0,0,0,0:9,60,29,68:142,91,121,83:1,40,18,23:-,NM_020925.2(CACHD1) c.2358-54_2358-53insA:-,NOT_FOUND:-,NOT_FOUND 1 65138941 . G . . NT END=65139030;NT GT ./. 1 65139148 . G . . NT END=65141083;NT GT ./. 1 65141245 . G . . NT END=65141579;NT GT ./. 1 65141667 . G . . NT END=65142577;NT GT ./. 1 65141676 rs56349165 TTAATAA T 27 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;Gene=CACHD1/NM_020925.2/1;CC=c.2822+52_2822+57delATAATA;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.2087+52_2087+57delATAATA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTAATAA,T:25:14:0:11:14,11:431,297:0.00,27.35:0.00,6.65:0.00,20.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,14.7:0,0:0,0:135,78:14,73:8,13:-,NM_020925.2(CACHD1) c.2822+11_2822+16delTAATAA:-,NOT_FOUND:-,NOT_FOUND 1 65142695 . G . . NT END=65143841;NT GT ./. 1 65143994 . G . . NT END=65145277;NT GT ./. 1 65144191 rs2478156 G C 8 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3802,C/0.6198;PC=0.503;Gene=CACHD1/NM_020925.2/1;CC=c.3091+198G>C;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.2356+198G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,G:7:0:0:0:3,4:88,143:8.15,0.00:0.00,0.00:8.15,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:29.3,6.0:0,0:0,0:149,83:2,67:0,25:NM_020925.2(CACHD1) c.3091+198G>C,-:0.57,-:NOT_FOUND,- 1 65145440 . G . . NT END=65146940;NT GT ./. 1 65147019 . G . . NT END=65147687;NT GT ./. 1 65147790 . G . . NT END=65157005;NT GT ./. 1 65156862 rs17126889 T C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9113,C/0.08866;Gene=CACHD1/NM_020925.2/1;CC=c.3434-144T>C;VC=Intron;Gene=CACHD1/NM_001293274.1/0;CC=c.2699-144T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:8,9:252,296:23.89,0.00:23.89,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:67.0,1.2:0,0:0,0:47,69:103,80:27,9:NM_020925.2(CACHD1) c.3434-144T>C,-:0.08,-:NOT_FOUND,- 1 65157245 . C . . NT END=65210855;NT GT ./. 1 65211105 . G . . NT END=65234338;NT GT ./. 1 65234406 . G . . NT END=65243305;NT GT ./. 1 65243776 . G . . NT END=65247062;NT GT ./. 1 65247255 . G . . NT END=65255070;NT GT ./. 1 65247394 rs2478151 T C 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6785,C/0.3215;PC=0.002;Gene=RAVER2/NM_018211.3/1;CC=c.978+140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:21:1:0:0:6,15:207,462:18.11,0.00:-0.15,0.00:18.26,0.00:0.93,0.00:0.52,0.00:1.00,0.00:60,60:34.5,10.2:0,0:0,0:117,88:32,63:15,51:NM_018211.3(RAVER2) c.978+140T>C,-:0.33,-:NOT_FOUND,- 1 65255018 rs2500232 G A 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.4651,A/0.5349;Gene=RAVER2/NM_018211.3/1;CC=c.979-53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:32:0:0:23,9:740,298:76.71,0.00:68.13,0.00:8.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,0.0:0,0:0,0:66,73:82,76:27,39:NM_018211.3(RAVER2) c.979-53G>A,-:0.54,-:NOT_FOUND,- 1 65255198 . G . . NT END=65268658;NT GT ./. 1 65268745 . G . . NT END=65270455;NT GT ./. 1 65270522 . G . . NT END=65270673;NT GT ./. 1 65270789 . G . . NT END=65272888;NT GT ./. 1 65273158 . G . . NT END=65278420;NT GT ./. 1 65273330 rs5774720 TA T 14 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TA/0.4669,T/0.5331;DB;DBA=NA;PAF=TA/0.4669,T/0.5331;NP=95;PC=0.002;Gene=RAVER2/NM_018211.3/1;CC=c.1641+176delA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:TA,T:14:0:0:5:9,5:279,157:0.00,14.12:0.00,0.00:0.00,14.12:0.00,0.90:0.00,0.00:0.00,0.90:60,60:13.9,0.0:0,0:0,0:111,105:39,46:28,38:-,NM_018211.3(RAVER2) c.1641+174delA:-,0.54:-,NOT_FOUND 1 65278533 . G . . NT END=65280386;NT GT ./. 1 65280524 . G . . NT END=65296521;NT GT ./. 1 65296669 . G . . NT END=65300244;NT GT ./. 1 65300341 . C . . NT END=65301078;NT GT ./. 1 65301190 . C . . NT END=65301780;NT GT ./. 1 65301611 rs2780815 T G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3061,C/.,G/0.6939;Gene=JAK1/NM_002227.2/1;CC=c.3258+170A>C;VC=Intron;DM=JAK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:4:4:0:0:3,1:96,32:10.05,0.00:10.05,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:63.7,0.0:0,0:0,0:41,24:109,127:23,0:NM_002227.2(JAK1) c.3258+170A>C,-:0.7,-:NOT_FOUND,- 1 65301669 rs2254002 C A 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4283,A/0.5717;Gene=JAK1/NM_002227.2/1;CC=c.3258+112G>T;VC=Intron;DM=JAK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,C:6:6:0:0:4,2:116,70:11.84,0.00:11.84,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:55.5,0.0:0,0:0,0:87,48:63,102:31,33:NM_002227.2(JAK1) c.3258+112G>T,-:0.55,-:NOT_FOUND,- 1 65301899 . C . . NT END=65303614;NT GT ./. 1 65303510 rs4916004 G A 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9669,A/0.03315;Gene=JAK1/NM_002227.2/1;CC=c.3140+105C>T;VC=Intron;DM=JAK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:12,12:358,401:34.26,0.00:34.26,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.0,16.5:0,0:0,0:38,62:112,77:23,39:NM_002227.2(JAK1) c.3140+105C>T,-:0.04,-:NOT_FOUND,- 1 65303788 . C . . NT END=65304147;NT GT ./. 1 65304273 . C . . NT END=65305285;NT GT ./. 1 65305102 rs10539130 TCA T 18 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1481;Gene=JAK1/NM_002227.2/1;CC=c.2842+182_2842+183delTG;VC=Intron;DM=JAK1/Pkinase_Tyr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:TCA,T:6:6:0:5:1,5:28,163:0.00,17.51:0.00,17.51:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,3.8:0,0:0,0:113,45:37,106:0,28:-,NM_002227.2(JAK1) c.2842+182_2842+183delTG:-,NOT_FOUND:-,NOT_FOUND 1 65305479 . C . . NT END=65306927;NT GT ./. 1 65307023 . C . . NT END=65307133;NT GT ./. 1 65307285 . C . . NT END=65309746;NT GT ./. 1 65307409 rs310247 G A 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.392,A/0.608;Gene=JAK1/NM_002227.2/1;CC=c.2404-125C>T;VC=Intron;DM=JAK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:1:0:0:10,14:329,438:30.60,0.00:1.80,0.00:28.80,0.00:1.00,0.00:0.61,0.00:1.00,0.00:60,60:56.8,4.6:0,0:0,0:97,120:48,30:33,18:NM_002227.2(JAK1) c.2404-125C>T,-:0.59,-:NOT_FOUND,- 1 65309899 . C . . NT END=65310436;NT GT ./. 1 65310328 . CA C 12 rn VT=DEL;SST=Single;DP=33;NP=9;Gene=JAK1/NM_002227.2/1;CC=c.2251+108delT;VC=Intron;DM=JAK1/Pkinase_Tyr;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:CA,I,C:33:33:2:5:26,2,5:860,65,155:0.00,4.32,11.94:0.00,4.36,12.04:0.00,-0.04,-0.11:0.00,0.00,0.79:0.00,0.00,0.79:0.00,0.00,0.44:60,60,60:8.5,89.0,5.2:0,0,0:0,0,0:40,53,58:110,98,91:32,17,17:-,NM_002227.2(JAK1) c.2251+108delT:-,NOT_FOUND:-,NOT_FOUND 1 65310573 . C . . NT END=65311195;NT GT ./. 1 65311262 rs2230587 G A 123 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.8017,A/0.1983;PC=0.009;Gene=JAK1/NM_002227.2/1;CC=c.2049C>T;ProtCh=p.S683=;VC=Silent;DM=JAK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:43:0:0:39,32:1255,980:122.88,0.00:55.87,0.00:67.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,19.8:0,0:0,0:88,100:58,49:27,32:NM_002227.2(JAK1) c.2049C>T (p.(=)),-:0.2,-:0.135553,- 1 65311324 . C . . NT END=65312331;NT GT ./. 1 65312420 . C . . NT END=65313214;NT GT ./. 1 65312949 rs2780823 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4199,G/0.5801;Gene=JAK1/NM_002227.2/1;CC=c.1899+266T>C;VC=Intron;DM=JAK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:6:6:0:0:3,3:77,92:0.00,8.84:0.00,8.84:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:47.0,39.0:0,0:0,0:35,43:104,108:6,12:-,NM_002227.2(JAK1) c.1899+266T>C:-,0.56:-,NOT_FOUND 1 65313359 . C . . NT END=65316486;NT GT ./. 1 65316594 . C . . NT END=65321191;NT GT ./. 1 65321382 . C . . NT END=65323338;NT GT ./. 1 65323463 . C . . NT END=65325787;NT GT ./. 1 65325946 . C . . NT END=65330469;NT GT ./. 1 65326095 rs200014012 TTGCA T 18 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TTGCA/0.3872,T/0.6128;NP=7;PC=0.028;Gene=JAK1/NM_002227.2/1;CC=c.1177-154_1177-151delTGCA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:TTGCA,T:18:0:0:6:12,6:384,199:0.00,17.79:0.00,0.00:0.00,17.79:0.00,0.94:0.00,0.00:0.00,0.94:60,60:17.2,10.8:0,0:0,0:101,85:49,65:27,19:-,NM_002227.2(JAK1) c.1177-154_1177-151delTGCA:-,0.58:-,NOT_FOUND 1 65326651 rs146319160 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=60;PC=0.442;Gene=JAK1/NM_002227.2/1;CC=c.1177-706T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:6:1:0:0:3,3:89,98:0.00,9.43:0.00,-0.15:0.00,9.58:0.00,0.73:0.00,0.67:0.00,0.73:60,60:16.0,98.7:0,0:0,0:138,136:12,10:12,8:-,NM_002227.2(JAK1) c.1177-706T>C:-,NOT_FOUND:-,NOT_FOUND 1 65330656 . C . . NT END=65332548;NT GT ./. 1 65332892 . C . . NT END=65334993;NT GT ./. 1 65335158 . C . . NT END=65339052;NT GT ./. 1 65335343 rs2274947 C G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7947,G/0.2053;Gene=JAK1/NM_002227.2/1;CC=c.484-186G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,G:6:0:0:0:3,3:73,107:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.73:0.00,0.00:0.00,0.73:60,60:40.3,35.7:0,0:0,0:75,82:75,69:63,7:-,NM_002227.2(JAK1) c.484-186G>C:-,0.2:-,NOT_FOUND 1 65338745 rs55869683 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8027,T/0.1973;PC=0.002;Gene=JAK1/NM_002227.2/1;CC=c.483+308G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:C,T:6:6:0:0:2,4:44,134:0.00,13.65:0.00,13.65:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:130.5,50.0:0,0:0,0:47,77:94,73:31,55:-,NM_002227.2(JAK1) c.483+308G>A:-,0.2:-,NOT_FOUND 1 65338775 rs17127117 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7812,T/0.2188;Gene=JAK1/NM_002227.2/1;CC=c.483+278G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:5:5:0:0:2,3:44,99:0.00,9.89:0.00,9.89:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:130.5,56.0:0,0:0,0:77,46:64,104:31,11:-,NM_002227.2(JAK1) c.483+278G>A:-,0.21:-,NOT_FOUND 1 65339207 . C . . NT END=65344707;NT GT ./. 1 65344832 . C . . NT END=65348959;NT GT ./. 1 65345127 rs2780830 C T 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2798,T/0.7202;PC=0.001;Gene=JAK1/NM_002227.2/1;CC=c.206-296G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:6:0:0:0:1,5:32,150:0.00,16.21:0.00,0.00:0.00,16.21:0.00,0.99:0.00,0.00:0.00,0.99:60,60:19.0,32.2:0,0:0,0:124,98:26,51:0,23:-,NM_002227.2(JAK1) c.206-296G>A:-,0.72:-,NOT_FOUND 1 65349159 . C . . NT END=65351941;NT GT ./. 1 65352025 . C . . NT END=65614090;NT GT ./. 1 65352434 rs375355114 TAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.4587,T/0.2939;NP=15;Gene=JAK1/NM_002227.2/1;CC=c.-77-412_-77-411delGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:TAC,T:4:4:0:2:2,2:61,67:0.00,6.45:0.00,4.86:0.00,1.59:0.00,0.51:0.00,0.51:0.00,0.79:60,60:54.5,0.0:0,0:0,0:82,29:67,86:50,11:-,NM_002227.2(JAK1) c.-77-412_-77-411delGT:-,NOT_FOUND:-,NOT_FOUND 1 65614236 . G . . NT END=65656392;NT GT ./. 1 65631993 rs56291735 C CTGTG 13 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=14;NP=2;Gene=AK4/NM_203464.2/0;CC=c.145+17799_145+17800insGTGT;VC=Intron;Gene=AK4/NM_001005353.2/1;CC=c.145+17799_145+17800insGTGT;VC=Intron;Gene=AK4/NM_013410.3/0;CC=c.145+17799_145+17800insGTGT;VC=Intron;DM=AK4/ADK;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,CTGTG,D:7:6:5:1:2,4,1:72,166,33:0.00,13.30,2.76:0.00,8.69,2.85:0.00,4.61,-0.09:0.00,0.87,0.00:0.00,0.73,0.00:0.00,0.51,0.00:60,60,60:0.0,31.0,31.0:0,1,0:0,0,0:49,48,69:87,102,82:35,23,0:-,NM_001005353.2(AK4) c.145+17758_145+17759insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 65649333 rs67485366 CGTGTGT C 16 sb,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=51;PC=0.171;Gene=AK4/NM_203464.2/0;CC=c.146-7021_146-7016delGTGTGT;VC=Intron;Gene=AK4/NM_001005353.2/1;CC=c.146-7021_146-7016delGTGTGT;VC=Intron;Gene=AK4/NM_013410.3/0;CC=c.146-7021_146-7016delGTGTGT;VC=Intron;DM=AK4/ADK;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CGTGTGT,C:8:3:0:7:3,5:98,173:0.00,15.85:0.00,1.13:0.00,14.72:0.00,0.96:0.00,0.92:0.00,1.00:60,60:19.7,0.0:0,1:0,0:97,77:48,63:30,18:-,NM_001005353.2(AK4) c.146-7059_146-7054delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 65656513 . G . . NT END=65684436;NT GT ./. 1 65684610 . G . . NT END=65690434;NT GT ./. 1 65690554 . G . . NT END=65691745;NT GT ./. 1 65691861 . C . . NT END=65720217;NT GT ./. 1 65720333 . G . . NT END=65730376;NT GT ./. 1 65730224 rs3828040 G C 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5274,C/0.4726;PC=0.149 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,G:15:15:0:0:7,8:165,251:15.28,0.00:15.28,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:51.0,17.4:0,0:0,0:18,75:133,74:8,11:NM_001256865.1(DNAJC6) c.-369-u153G>C,-:0.48,-:NOT_FOUND,- 1 65730616 . G . . NT END=65744679;NT GT ./. 1 65730851 rs1749970 C T 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3001,T/0.6999;Gene=DNAJC6/NM_001256865.1/1;CC=c.-131+236C>T;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.22+236C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:218:25.14:0.00:25.14:1.00:0.00:1.00:60:90.9:0:0:117:33:13:NM_014787.3(DNAJC6) c.22+236C>T,NM_014787.3(DNAJC6) c.22+236C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 65730862 rs1749971 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3235,G/0.6765;Gene=DNAJC6/NM_001256865.1/1;CC=c.-131+247A>G;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.22+247A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:199:23.19:0.00:23.19:1.00:0.00:1.00:60:90.9:0:0:128:22:13:NM_014787.3(DNAJC6) c.22+247A>G,NM_014787.3(DNAJC6) c.22+247A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 65733568 rs67357998 GGTGT G 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=349;PC=0.023;Gene=DNAJC6/NM_001256865.1/1;CC=c.-131+2976_-131+2979delGTGT;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.22+2976_22+2979delGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GGTGT,G:4:2:0:3:1,3:36,100:0.00,10.45:0.00,1.17:0.00,9.28:0.00,0.85:0.00,0.95:0.00,0.99:60,60:38.0,0.0:0,0:0,0:61,26:89,125:0,6:-,NM_014787.3(DNAJC6) c.22+2954_22+2957delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 65744806 . G . . NT END=65775217;NT GT ./. 1 65775187 rs7528227 G C 233 nt VT=SNV;PN=G;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=5;Gene=DNAJC6/NM_001256865.1/1;CC=c.-130-36107G>C;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.22+44572G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:62:0:0:72:1989:232.83:156.12:76.71:1.00:1.00:1.00:60:72.3:0:0:48:101:30:NM_001256864.1(DNAJC6) c.-211-u31G>C,NM_001256864.1(DNAJC6) c.-211-u31G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 65775330 rs373500242 AT A 25 idl,rn VT=DEL;SST=Single;DP=130;DB;DBA=NA;PAF=NA;NP=3;PC=0.005;Gene=DNAJC6/NM_001256865.1/1;CC=c.-130-35949delT;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.22+44730delT;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.-84delT;VC=5UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:AT,C,I,A:121:96:14:17:97,2,10,12:2783,21,446,523:0.00,-0.31,22.29,25.47:0.00,-0.21,16.27,16.32:0.00,-0.11,6.02,9.15:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,70:27.4,82.0,33.5,32.3:0,1,4,5:0,0,0,0:83,98,67,26:62,40,75,123:34,21,43,19:-,NM_001256864.1(DNAJC6) c.-98T[14]:-,NOT_FOUND:-,NOT_FOUND 1 65775622 . G . . NT END=65811293;NT GT ./. 1 65810912 rs66825572 CGT C 10 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=119;Gene=DNAJC6/NM_001256865.1/1;CC=c.-130-345_-130-344delGT;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.23-19369_23-19368delGT;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.194-19369_194-19368delGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:CGT,I,C:9:9:1:4:4,1,4:138,34,108:0.00,2.72,10.26:0.00,1.36,6.69:0.00,1.36,3.57:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.98:60,60,60:15.5,0.0,18.5:0,0,0:0,0,0:50,81,21:39,54,110:16,0,15:-,NM_001256864.1(DNAJC6) c.194-19405_194-19404delGT:-,NOT_FOUND:-,NOT_FOUND 1 65811361 rs397755284 AG A 76 PASS VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=AG/0.4219,A/0.5781;DB;DBA=NA;PAF=AG/0.4219,A/0.5781;NP=16;Gene=DNAJC6/NM_001256865.1/1;CC=c.-61delG;VC=5UTR;Gene=DNAJC6/NM_014787.3/0;CC=c.23-18955delG;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.194-18955delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:52:33:0:26:26,26:844,793:0.00,76.05:0.00,27.56:0.00,48.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,14.9:0,0:0,0:79,82:62,67:28,38:-,NM_001256864.1(DNAJC6) c.194-18956delG:-,0.56:-,NOT_FOUND 1 65811407 . G . . NT END=65830317;NT GT ./. 1 65830297 rs2296478 G T 60 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.4497,T/0.5503;PC=0.162;Gene=DNAJC6/NM_001256865.1/1;CC=c.-17-21G>T;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.23-21G>T;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.194-21G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,I,D:64:55:11:7:31,20,8,5:991,657,337,218:0.00,59.90,18.99,11.28:0.00,39.92,11.22,6.46:0.00,19.98,7.77,4.82:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:36.2,89.1,50.9,74.8:1,4,3,2:0,0,0,0:64,76,65,81:58,75,69,58:21,26,23,39:-,NM_001256864.1(DNAJC6) c.194-21G>T:-,NOT_FOUND:-,NOT_FOUND 1 65830299 rs2296479 T G 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.4497,G/0.5503;NP=979;PC=0.049;Gene=DNAJC6/NM_001256865.1/1;CC=c.-17-19T>G;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.23-19T>G;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.194-19T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:70:55:0:2:16,54:553,1689:46.62,0.00:32.92,0.00:13.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:106.2,31.5:0,16:0,0:72,67:78,73:30,29:NM_001256864.1(DNAJC6) c.194-19T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 65830469 . G . . NT END=65831567;NT GT ./. 1 65830608 rs1570868 T C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5152,C/0.4848;Gene=DNAJC6/NM_001256865.1/1;CC=c.134+140T>C;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.173+140T>C;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.344+140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:0:0:0:9,10:314,314:29.99,0.00:0.00,0.00:29.99,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.7,7.6:0,0:0,0:104,86:47,64:11,38:NM_001256864.1(DNAJC6) c.344+140T>C,-:0.46,-:NOT_FOUND,- 1 65831618 . G . . NT END=65831730;NT GT ./. 1 65831880 . G . . NT END=65845084;NT GT ./. 1 65844963 rs3818449 A G 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.2398,G/0.7602;PC=0.001;Gene=DNAJC6/NM_001256865.1/1;CC=c.334-122A>G;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.373-122A>G;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.544-122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:41:0:0:22,20:671,569:0.00,53.78:0.00,51.46:0.00,2.32:0.00,1.00:0.00,1.00:0.00,0.99:60,60:11.2,62.7:0,0:0,0:45,61:95,89:27,41:-,NM_001256864.1(DNAJC6) c.544-122A>G:-,0.73:-,NOT_FOUND 1 65845208 . G . . NT END=65849875;NT GT ./. 1 65850010 . G . . NT END=65851394;NT GT ./. 1 65851590 . G . . NT END=65852494;NT GT ./. 1 65851759 rs10889546 G A 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2921,A/0.7079;PC=0.010;Gene=DNAJC6/NM_001256865.1/1;CC=c.785+170G>A;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.824+170G>A;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.995+170G>A;VC=Intron;DM=DNAJC6/PTEN_C2;DM=DNAJC6/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,G:14:0:0:0:9,5:301,161:30.43,0.00:0.00,0.00:30.43,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:61.8,21.4:0,0:0,0:119,119:32,32:16,5:NM_001256864.1(DNAJC6) c.995+170G>A,-:0.69,-:NOT_FOUND,- 1 65852310 rs11208643 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6873,G/0.3127;Gene=DNAJC6/NM_001256865.1/1;CC=c.786-185A>G;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.825-185A>G;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.996-185A>G;VC=Intron;DM=DNAJC6/PTEN_C2;DM=DNAJC6/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:5:5:0:0:1,4:35,126:0.00,13.42:0.00,13.42:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,47.8:0,0:0,0:68,86:83,64:0,22:-,NM_001256864.1(DNAJC6) c.996-185A>G:-,0.33:-,NOT_FOUND 1 65852613 . G . . NT END=65854018;NT GT ./. 1 65852870 rs9436725 A G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2921,G/0.7079;PC=0.001;Gene=DNAJC6/NM_001256865.1/1;CC=c.903+258A>G;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.942+258A>G;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.1113+258A>G;VC=Intron;DM=DNAJC6/PTEN_C2;DM=DNAJC6/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G,T:8:0:0:0:2,5,1:43,168,19:0.00,17.32,1.37:0.00,0.00,0.00:0.00,17.32,1.37:0.00,0.97,0.00:0.00,0.00,0.00:0.00,0.97,0.00:60,60,60:0.0,35.2,185.0:0,0,0:0,0,0:72,134,87:78,16,60:45,15,0:-,NM_001256864.1(DNAJC6) c.1113+258A>G:-,0.69:-,NOT_FOUND 1 65854099 . G . . NT END=65854938;NT GT ./. 1 65855133 . G . . NT END=65855229;NT GT ./. 1 65855311 . G . . NT END=65858113;NT GT ./. 1 65858088 rs6588144 T C 122 nt VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.5841,C/0.4159;Gene=DNAJC6/NM_001256865.1/1;CC=c.1259-26T>C;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.1298-26T>C;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.1469-26T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:99:88:0:0:42,57:1312,1920:121.91,0.00:103.93,0.00:17.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.2,7.0:0,0:0,0:47,46:101,103:29,19:NM_001256864.1(DNAJC6) c.1469-26T>C,-:0.4,-:0.504152,- 1 65858145 rs4325172 G A 188 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.646,A/0.354;PC=1.000;Gene=DNAJC6/NM_001256865.1/1;CC=c.1290G>A;ProtCh=p.E430=;VC=Silent;Gene=DNAJC6/NM_014787.3/0;CC=c.1329G>A;ProtCh=p.E443=;VC=Silent;Gene=DNAJC6/NM_001256864.1/0;CC=c.1500G>A;ProtCh=p.E500=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:139:116:0:0:63,76:1997,2444:188.14,0.00:128.25,0.00:59.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.1,8.5:0,0:0,0:51,75:92,71:32,28:NM_001256864.1(DNAJC6) c.1500G>A (p.(=)),-:0.36,-:0.461633,- 1 65858549 . G . . NT END=65860580;NT GT ./. 1 65860687 rs4582839 A C 133 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.2422,C/0.7578;PC=0.121;Gene=DNAJC6/NM_001256865.1/1;CC=c.1800A>C;ProtCh=p.P600=;VC=Silent;Gene=DNAJC6/NM_014787.3/0;CC=c.1839A>C;ProtCh=p.P613=;VC=Silent;Gene=DNAJC6/NM_001256864.1/0;CC=c.2010A>C;ProtCh=p.P670=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:80:39:0:0:39,41:1255,1372:0.00,132.69:0.00,51.81:0.00,80.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,39.3:0,0:0,0:120,90:31,48:14,25:-,NM_001256864.1(DNAJC6) c.2010A>C (p.(=)):-,0.73:-,0.695448 1 65860716 . G . . NT END=65864495;NT GT ./. 1 65864565 . G . . NT END=65867443;NT GT ./. 1 65867391 rs4592284 C G 85 nt VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.2686,G/0.7314;PC=0.021;Gene=DNAJC6/NM_001256865.1/1;CC=c.1898-53C>G;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.1937-53C>G;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.2108-53C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:61:56:0:0:32,29:1097,899:0.00,85.33:0.00,70.96:0.00,14.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,40.7:0,0:0,0:43,64:107,87:17,33:-,NM_001256864.1(DNAJC6) c.2108-53C>G:-,0.71:-,NOT_FOUND 1 65867564 . G . . NT END=65871552;NT GT ./. 1 65871817 . G . . NT END=65874323;NT GT ./. 1 65874467 . G . . NT END=65876932;NT GT ./. 1 65874626 rs66951816 A AT 7 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.5266,AT/0.4734;DB;DBA=NA;PAF=A/0.5266,AT/0.4734;NP=328;PC=0.001;Gene=DNAJC6/NM_001256865.1/1;CC=c.2424+170_2424+171insT;VC=Intron;Gene=DNAJC6/NM_014787.3/0;CC=c.2463+170_2463+171insT;VC=Intron;Gene=DNAJC6/NM_001256864.1/0;CC=c.2634+170_2634+171insT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,AT:32:0:3:0:29,3:928,96:0.00,6.71:0.00,0.00:0.00,6.71:0.00,0.41:0.00,0.00:0.00,0.41:60,60:5.4,0.0:0,0:0,0:100,85:51,64:30,25:-,NM_001256864.1(DNAJC6) c.2634+160_2634+161insT:-,NOT_FOUND:-,NOT_FOUND 1 65877110 . G . . NT END=65878606;NT GT ./. 1 65878709 . T . . NT END=65886407;NT GT ./. 1 65881132 rs68183979 AAC A,AACAC 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:11:AAC,AACAC,A:4:3:3:1:1,2,1:18,96,29:0.00,6.64,2.58:0.00,3.48,1.34:0.00,3.16,1.24:0.00,0.46,0.00:0.00,0.80,0.00:0.00,0.80,0.00:60,70,60:0.0,38.0,0.0:0,1,0:0,0,0:104,54,73:38,97,78:0,17,0:NM_001256864.1(DNAJC6) c.*2426CA[17],NM_001256864.1(DNAJC6) c.*2460_*2461dupCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 65886211 rs12568532 G C 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4287,C/0.5713;Gene=LEPROT/NM_001198683.1/0;CC=c.-197G>C;VC=5UTR;Gene=LEPROT/NM_017526.4/0;CC=c.-197G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:18:0:0:10,8:306,256:30.00,0.00:30.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:67.1,6.6:0,0:0,0:31,43:118,108:18,19:NM_001003679.3(LEPR) c.-185-u124G>C,-:0.59,-:NOT_FOUND,- 1 65886398 rs3790435 T C 164 nt VT=SNV;PN=G;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.4321,C/0.5679,G/.;PC=0.001;Gene=LEPROT/NM_001198683.1/0;CC=c.-10T>C;VC=5UTR;Gene=LEPROT/NM_017526.4/0;CC=c.-10T>C;VC=5UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-122T>C;VC=5UTR;Gene=LEPR/NM_001003679.3/0;CC=c.-122T>C;VC=5UTR;Gene=LEPR/NM_002303.5/0;CC=c.-122T>C;VC=5UTR;Gene=LEPROT/NM_001198681.1/1;CC=c.-114-1T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:114:84:0:0:51,63:1735,1970:163.78,0.00:83.95,0.00:79.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.9,14.2:0,0:0,0:83,83:64,63:26,27:NM_001003679.3(LEPR) c.-122T>C,-:0.57,-:0.441844,- 1 65886424 . G . . NT END=65887010;NT GT ./. 1 65886448 rs3790434 T C 135 nt VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.4575,C/0.5425;Gene=LEPROT/NM_001198683.1/0;CC=c.16+25T>C;VC=Intron;Gene=LEPROT/NM_017526.4/0;CC=c.16+25T>C;VC=Intron;Gene=LEPR/NM_001003680.3/1;CC=c.-97+25T>C;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-97+25T>C;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-97+25T>C;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.-90+25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:99:56:0:0:46,53:1429,1769:134.97,0.00:54.27,0.00:80.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,8.9:0,0:0,0:108,101:37,45:26,31:NM_001003679.3(LEPR) c.-97+25T>C,-:0.52,-:0.421184,- 1 65887013 rs12145690 A C 93 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.4581,C/0.5419;PC=0.003;Gene=LEPROT/NM_001198683.1/0;CC=c.16+590A>C;VC=Intron;Gene=LEPROT/NM_017526.4/0;CC=c.16+590A>C;VC=Intron;Gene=LEPR/NM_001003680.3/1;CC=c.-97+590A>C;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-97+590A>C;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-97+590A>C;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.-87A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:65:50:0:0:35,30:1157,987:0.00,93.46:0.00,58.81:0.00,34.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,38.9:0,0:0,0:51,56:99,94:34,31:-,NM_001198681.1(LEPROT) c.-87A>C:-,0.55:-,NOT_FOUND 1 65887143 . G . . NT END=65890985;NT GT ./. 1 65891062 . G . . NT END=65895544;NT GT ./. 1 65895732 . G . . NT END=65897485;NT GT ./. 1 65897981 rs1045895 G A 169 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.8161,A/0.1839;PC=0.017;Gene=LEPROT/NM_017526.4/0;CC=c.*379G>A;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+6920G>A;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+6920G>A;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+6920G>A;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*379G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:47:0:0:51,41:1723,1293:169.15,0.00:62.26,0.00:106.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,9.0:0,0:0,0:84,91:58,56:28,28:NM_001198681.1(LEPROT) c.*379G>A,-:0.22,-:NOT_FOUND,- 1 65898030 . c . . NT END=65898258;NT GT ./. 1 65898249 rs71792433 TAA T 38 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=TAA/0.7979,T/0.2021;NP=81;PC=0.002;Gene=LEPROT/NM_017526.4/0;CC=c.*661_*662delAA;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+7202_-21+7203delAA;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+7202_-21+7203delAA;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+7202_-21+7203delAA;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*661_*662delAA;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TAA,I,T:32:33:1:25:1,15,1,15:33,480,26,711:2.00,0.00,1.31,37.86:0.96,0.00,0.62,17.38:1.04,0.00,0.69,20.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:33.0,11.5,0.0,40.2:1,1,0,10:0,0,0,0:74,66,131,41:75,73,20,108:0,50,0,24:-,NM_001198681.1(LEPROT) c.*648A[13]:-,NOT_FOUND:-,NOT_FOUND 1 65898376 . t . . NT END=65898613;NT GT ./. 1 65898873 rs17750 G C 145 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.8137,C/0.1863;PC=0.181;Gene=LEPROT/NM_017526.4/0;CC=c.*1271G>C;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+7812G>C;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+7812G>C;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+7812G>C;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*1271G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:112:59:0:0:3,51,58:27,1530,1709:-0.11,144.63,0.00:0.35,67.07,0.00:-0.46,77.56,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:59.3,63.9,40.3:0,0,0:0,0,0:81,63,74:70,83,71:2,34,32:NM_001198681.1(LEPROT) c.*1271G>C,-:0.22,-:NOT_FOUND,- 1 65898972 rs1536466 G A 335 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.001198,A/0.9988;NP=44;Gene=LEPROT/NM_017526.4/0;CC=c.*1370G>A;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+7911G>A;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+7911G>A;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+7911G>A;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*1370G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:94:49:0:0:93,1:2917,12:335.37,0.17:142.55,0.00:192.82,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.4,81.0:0,0:0,0:72,54:72,97:44,0:NM_001198681.1(LEPROT) c.*1370G>A,NM_001198681.1(LEPROT) c.*1370G>A:1,1:NOT_FOUND,NOT_FOUND 1 65898996 rs1046011 C T 167 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.6382,T/0.3618;PC=0.001;Gene=LEPROT/NM_017526.4/0;CC=c.*1394C>T;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+7935C>T;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+7935C>T;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+7935C>T;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*1394C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:48:0:0:39,50:1288,1700:0.00,167.36:0.00,88.41:0.00,78.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.5,70.2:0,0:0,0:80,66:71,80:38,35:-,NM_001198681.1(LEPROT) c.*1394C>T:-,0.42:-,NOT_FOUND 1 65900357 rs55889533 G T 108 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.8161,C/.,T/0.1839;PC=0.963;Gene=LEPROT/NM_017526.4/0;CC=c.*2755G>T;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+9296G>T;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+9296G>T;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+9296G>T;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*2755G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:80:42:0:0:42,38:1304,1143:0.00,108.34:0.00,41.58:0.00,66.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,39.6:0,0:0,0:87,59:61,91:35,48:-,NM_001198681.1(LEPROT) c.*2755G>T:-,0.22:-,NOT_FOUND 1 65901053 rs201944208 T TC 33 PASS VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.5663,TC/0.4337;NP=224;PC=0.010;Gene=LEPROT/NM_017526.4/0;CC=c.*3451_*3452insC;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+9992_-21+9993insC;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+9992_-21+9993insC;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+9992_-21+9993insC;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*3451_*3452insC;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TC:47:27:12:0:1,34,12:27,1112,386:1.20,0.00,32.86:-0.14,0.00,13.25:1.34,0.00,19.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:58,60,60:92.0,43.0,30.9:0,8,0:0,0,0:1,104,92:149,17,59:0,28,21:-,NM_001198681.1(LEPROT) c.*3451_*3452insC:-,0.23:-,NOT_FOUND 1 65901054 rs7416260 T C 24 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=62;PC=0.007;Gene=LEPROT/NM_017526.4/0;CC=c.*3452T>C;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+9993T>C;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+9993T>C;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+9993T>C;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*3452T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:25:0:0:9,37:299,1212:24.32,0.00:11.84,0.00:12.48,0.00:0.98,0.00:0.98,0.00:1.00,0.00:60,60:52.4,37.1:0,19:0,0:133,96:12,48:12,27:NM_001198681.1(LEPROT) c.*3452T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 65901062 . t . . NT END=65901329;NT GT ./. 1 65901119 rs9436743 T C 57 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3672,C/0.6328;Gene=LEPROT/NM_017526.4/0;CC=c.*3517T>C;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+10058T>C;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+10058T>C;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+10058T>C;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*3517T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:10:0:0:20,11:563,338:57.07,0.00:11.24,0.00:45.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.5,35.8:0,0:0,0:78,47:72,104:33,32:NM_001198681.1(LEPROT) c.*3517T>C,-:0.55,-:NOT_FOUND,- 1 65901208 rs6658922 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.7875,A/0.2125;PC=0.028;Gene=LEPROT/NM_017526.4/0;CC=c.*3606G>A;VC=3UTR;Gene=LEPR/NM_001003680.3/1;CC=c.-21+10147G>A;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-21+10147G>A;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-21+10147G>A;VC=Intron;Gene=LEPROT/NM_001198681.1/1;CC=c.*3606G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:20:0:0:13,17:363,490:33.59,0.00:27.59,0.00:6.00,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.4,20.7:0,0:0,0:55,84:96,64:49,32:NM_001198681.1(LEPROT) c.*3606G>A,-:0.23,-:NOT_FOUND,- 1 65901691 . C . . NT END=65991300;NT GT ./. 1 65991502 . G . . NT END=65991783;NT GT ./. 1 65992124 . G . . NT END=66031228;NT GT ./. 1 66031063 rs6673324 G A 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4241,A/0.5759;Gene=LEPR/NM_001003680.3/1;CC=c.-20-166G>A;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.-20-166G>A;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.-20-166G>A;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.-20-166G>A;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.-20-166G>A;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.-20-166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:10:10:0:0:8,2:243,70:25.92,0.00:25.92,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.9,0.0:0,0:0,0:36,25:115,125:23,9:NM_001003679.3(LEPR) c.-20-166G>A,-:0.6,-:NOT_FOUND,- 1 66031289 . G . . NT END=66036155;NT GT ./. 1 66036441 rs1137100 A G 197 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=in-clinvar;PAF=A/0.6797,G/0.3203;PC=0.986;Gene=LEPR/NM_001003680.3/1;CC=c.326A>G;ProtCh=p.K109R;VC=Missense;Gene=LEPR/NM_001003679.3/0;CC=c.326A>G;ProtCh=p.K109R;VC=Missense;Gene=LEPR/NM_002303.5/0;CC=c.326A>G;ProtCh=p.K109R;VC=Missense;Gene=LEPR/NM_001198688.1/0;CC=c.326A>G;ProtCh=p.K109R;VC=Missense;Gene=LEPR/NM_001198687.1/0;CC=c.326A>G;ProtCh=p.K109R;VC=Missense;Gene=LEPR/NM_001198689.1/0;CC=c.326A>G;ProtCh=p.K109R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:59:0:0:56,62:1932,2031:0.00,197.17:0.00,64.90:0.00,132.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.4,49.8:0,0:0,0:80,91:67,54:35,28:-,NM_001003679.3(LEPR) c.326A>G (p.Lys109Arg):-,0.39:-,0.233354 1 66036486 . G . . NT END=66038008;NT GT ./. 1 66036501 rs2186248 G T 285 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=3463;Gene=LEPR/NM_001003680.3/1;CC=c.370+16G>T;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.370+16G>T;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.370+16G>T;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.370+16G>T;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.370+16G>T;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.370+16G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:76:23:0:0:76:2485:284.73:61.08:223.65:1.00:1.00:1.00:60:50.8:0:0:113:32:21:NM_001003679.3(LEPR) c.370+16G>T,NM_001003679.3(LEPR) c.370+16G>T:1,1:0.999461,0.999461 1 66037654 rs72311704 C CAAAAA 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.017;Gene=LEPR/NM_001003680.3/1;CC=c.371-337_371-336insAAAAA;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.371-337_371-336insAAAAA;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.371-337_371-336insAAAAA;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.371-337_371-336insAAAAA;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.371-337_371-336insAAAAA;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.371-337_371-336insAAAAA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:CAAAAA:2:4:4:0:2:130:6.85:6.85:0.00:0.51:0.51:0.00:60:90.0:2:0:29:121:10:NM_001003679.3(LEPR) c.371-355_371-354insAAAAA,NM_001003679.3(LEPR) c.371-355_371-354insAAAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 66037973 rs370258396 GT G 47 idl,rn VT=DEL;SST=Single;DP=114;DB;DBA=NA;PAF=NA;NP=5;PC=0.998;Gene=LEPR/NM_001003680.3/1;CC=c.371-9delT;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.371-9delT;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.371-9delT;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.371-9delT;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.371-9delT;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.371-9delT;VC=Intron;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,T,I,G:101:83:14:37:61,11,11,18:1792,290,415,871:0.00,20.55,24.71,47.04:0.00,-1.99,17.91,27.01:0.00,22.54,6.80,20.03:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:16.1,83.6,92.6,95.5:0,5,3,10:0,0,0,0:103,67,54,38:28,74,81,85:23,21,25,25:-,NM_001003679.3(LEPR) c.371-35delT:-,NOT_FOUND:-,NOT_FOUND 1 66038133 . G . . NT END=66058339;NT GT ./. 1 66058204 rs79816855 G GT 24 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=341;Gene=LEPR/NM_001003680.3/1;CC=c.495-125_495-124insT;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.495-125_495-124insT;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.495-125_495-124insT;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.495-125_495-124insT;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.495-125_495-124insT;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.495-125_495-124insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:15:15:8:0:7,8:224,244:0.00,23.71:0.00,23.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:39.7,62.2:0,0:0,0:48,33:81,117:39,10:-,NM_001003679.3(LEPR) c.495-136_495-135insT:-,NOT_FOUND:-,NOT_FOUND 1 66058513 rs1137101 A G 121 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=in-clinvar;PAF=A/0.4157,G/0.5843;PC=1.000;Gene=LEPR/NM_001003680.3/1;CC=c.668A>G;ProtCh=p.Q223R;VC=Missense;Gene=LEPR/NM_001003679.3/0;CC=c.668A>G;ProtCh=p.Q223R;VC=Missense;Gene=LEPR/NM_002303.5/0;CC=c.668A>G;ProtCh=p.Q223R;VC=Missense;Gene=LEPR/NM_001198688.1/0;CC=c.668A>G;ProtCh=p.Q223R;VC=Missense;Gene=LEPR/NM_001198687.1/0;CC=c.668A>G;ProtCh=p.Q223R;VC=Missense;Gene=LEPR/NM_001198689.1/0;CC=c.668A>G;ProtCh=p.Q223R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:89:39:0:0:46,42,1:1495,1274,12:0.00,120.97,-0.05:0.00,32.40,-0.07:0.00,88.57,0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.5,40.8,126.0:0,0,0:0,0,0:101,85,26:37,59,125:27,30,0:-,NM_001003679.3(LEPR) c.668A>G (p.Gln223Arg):-,0.59:-,0.490312 1 66058549 . G . . NT END=66062130;NT GT ./. 1 66058801 rs4655537 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3063,G/0.6937;Gene=LEPR/NM_001003680.3/1;CC=c.703+253A>G;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.703+253A>G;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.703+253A>G;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.703+253A>G;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.703+253A>G;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.703+253A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:7:0:0:0:4,3:133,101:0.00,9.46:0.00,0.00:0.00,9.46:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,38.0:0,0:0,0:121,135:30,15:2,5:-,NM_001003679.3(LEPR) c.703+253A>G:-,0.71:-,NOT_FOUND 1 66062277 . G . . NT END=66064342;NT GT ./. 1 66064113 rs3762274 T C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4253,C/0.5747;Gene=LEPR/NM_001003680.3/1;CC=c.850-230T>C;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.850-230T>C;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.850-230T>C;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.850-230T>C;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.850-230T>C;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.850-230T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,T:10:10:0:0:7,3:242,96:24.89,0.00:24.89,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.0,19.7:0,0:0,0:22,29:127,122:19,8:NM_001003679.3(LEPR) c.850-230T>C,-:0.58,-:NOT_FOUND,- 1 66064293 rs3762273 A C 135 nt VT=SNV;PN=A;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.4261,C/0.5739,T/.;PC=0.001;Gene=LEPR/NM_001003680.3/1;CC=c.850-50A>C;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.850-50A>C;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.850-50A>C;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.850-50A>C;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.850-50A>C;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.850-50A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:89:80:0:0:44,44,1:1433,1410,12:0.00,135.48,-0.04:0.00,99.46,-0.00:0.00,36.01,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.6,36.6,81.0:0,0,0:0,0,0:52,63,140:93,83,11:34,27,0:-,NM_001003679.3(LEPR) c.850-50A>C:-,0.57:-,0.440864 1 66064488 . G . . NT END=66067074;NT GT ./. 1 66064710 rs3828033 C T 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4401,T/0.5599;PC=0.005;Gene=LEPR/NM_001003680.3/1;CC=c.994+223C>T;VC=Intron;Gene=LEPR/NM_001003679.3/0;CC=c.994+223C>T;VC=Intron;Gene=LEPR/NM_002303.5/0;CC=c.994+223C>T;VC=Intron;Gene=LEPR/NM_001198688.1/0;CC=c.994+223C>T;VC=Intron;Gene=LEPR/NM_001198687.1/0;CC=c.994+223C>T;VC=Intron;Gene=LEPR/NM_001198689.1/0;CC=c.994+223C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:6,9:207,295:0.00,29.41:0.00,0.00:0.00,29.41:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.3,46.7:0,0:0,0:82,131:68,18:12,15:-,NM_001003679.3(LEPR) c.994+223C>T:-,0.56:-,NOT_FOUND 1 66067109 rs1805134 T C 106 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.746,C/0.254;PC=1.000;Gene=LEPR/NM_001003680.3/1;CC=c.1029T>C;ProtCh=p.S343=;VC=Silent;Gene=LEPR/NM_001003679.3/0;CC=c.1029T>C;ProtCh=p.S343=;VC=Silent;Gene=LEPR/NM_002303.5/0;CC=c.1029T>C;ProtCh=p.S343=;VC=Silent;Gene=LEPR/NM_001198688.1/0;CC=c.1029T>C;ProtCh=p.S343=;VC=Silent;Gene=LEPR/NM_001198687.1/0;CC=c.1029T>C;ProtCh=p.S343=;VC=Silent;Gene=LEPR/NM_001198689.1/0;CC=c.1029T>C;ProtCh=p.S343=;VC=Silent;DM=LEPR/Lep_receptor_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:43:0:0:35,27:1079,834:106.15,0.00:54.20,0.00:51.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,10.0:0,0:0,0:56,67:92,71:34,38:NM_001003679.3(LEPR) c.1029T>C (p.(=)),-:0.19,-:0.243734,- 1 66067366 . G . . NT END=66067525;NT GT ./. 1 66067644 . G . . NT END=66070720;NT GT ./. 1 66070921 . G . . NT END=66074435;NT GT ./. 1 66074585 . G . . NT END=66075629;NT GT ./. 1 66075790 . G . . NT END=66075896;NT GT ./. 1 66075980 . G . . NT END=66081690;NT GT ./. 1 66081908 . G . . NT END=66083646;NT GT ./. 1 66083830 . G . . NT END=66085610;NT GT ./. 1 66085707 . G . . NT END=66087035;NT GT ./. 1 66087142 . G . . NT END=66088588;NT GT ./. 1 66088665 . G . . NT END=66091805;NT GT ./. 1 66092024 . G . . NT END=66098834;NT GT ./. 1 66101112 . T . . NT END=66101873;NT GT ./. 1 66102699 . T . . NT END=66378997;NT GT ./. 1 66379040 . G . . NT END=66384279;NT GT ./. 1 66384519 . G . . NT END=66458389;NT GT ./. 1 66458826 . G . . NT END=66713142;NT GT ./. 1 66547511 rs61796645 C G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=30;PC=0.004;Gene=PDE4B/NM_001037341.1/1;CC=c.281+162993C>G;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.6-165632C>G;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.281+162993C>G;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.57-165632C>G;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.236+88686C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:5:3:0:0:2,3:68,105:0.00,10.47:0.00,2.96:0.00,7.51:0.00,0.78:0.00,0.94:0.00,0.87:60,60:17.0,134.7:1,0:0,0:47,54:92,94:42,24:-,NM_001037341.1(PDE4B) c.281+162993C>G:-,NOT_FOUND:-,NOT_FOUND 1 66547513 rs61796646 C G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=97;PC=0.007;Gene=PDE4B/NM_001037341.1/1;CC=c.281+162995C>G;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.6-165630C>G;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.281+162995C>G;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.57-165630C>G;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.236+88688C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:C,G:5:3:0:0:2,3:46,104:0.00,10.38:0.00,2.97:0.00,7.41:0.00,0.78:0.00,0.94:0.00,0.87:60,60:17.0,134.7:1,0:0,0:49,56:90,92:42,24:-,NM_001037341.1(PDE4B) c.281+162995C>G:-,NOT_FOUND:-,NOT_FOUND 1 66547515 rs12759207 C G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=138;NP=3;NP=5;PC=0.006;Gene=PDE4B/NM_001037341.1/1;CC=c.281+162997C>G;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.6-165628C>G;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.281+162997C>G;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.57-165628C>G;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.236+88690C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:5:3:0:0:2,3:69,103:0.00,10.27:0.00,2.76:0.00,7.51:0.00,0.78:0.00,0.94:0.00,0.87:60,60:17.0,134.7:1,0:0,0:51,58:88,90:42,24:-,NM_001037341.1(PDE4B) c.281+162997C>G:-,NOT_FOUND:-,NOT_FOUND 1 66590601 rs58795750 C CGT 9 idl,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=2;NP=283;NP=6;PC=0.008;Gene=PDE4B/NM_001037341.1/1;CC=c.282-122517_282-122516insTG;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.6-122517_6-122516insTG;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.282-122517_282-122516insTG;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.57-122517_57-122516insTG;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.237-122517_237-122516insTG;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CGT:5:5:5:0:2,3:66,148:0.00,8.54:0.00,3.50:0.00,5.04:0.00,0.69:0.00,0.93:0.00,0.89:60,60:0.0,9.7:0,2:0,0:148,70:3,81:2,10:-,NM_001037341.1(PDE4B) c.282-122542_282-122541insGT:-,NOT_FOUND:-,NOT_FOUND 1 66713338 . G . . NT END=66723329;NT GT ./. 1 66723367 . G . . NT END=66723475;NT GT ./. 1 66723547 . G . . NT END=66731720;NT GT ./. 1 66731771 . G . . NT END=66796410;NT GT ./. 1 66731886 rs6588193 G C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7258,C/0.2742;Gene=PDE4B/NM_001037341.1/1;CC=c.634+116G>C;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.358+116G>C;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.634+116G>C;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.409+116G>C;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.589+116G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,G:14:1:0:0:5,9:165,307:14.92,0.00:-0.10,0.00:15.02,0.00:0.90,0.00:0.57,0.00:0.90,0.00:60,60:35.0,4.1:0,0:0,0:55,104:96,47:13,29:NM_001037341.1(PDE4B) c.634+116G>C,-:0.33,-:NOT_FOUND,- 1 66796226 rs910694 C T 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4946,T/0.5054;Gene=PDE4B/NM_001037341.1/1;CC=c.635-1965C>T;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.359-1965C>T;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.635-1965C>T;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.410-1965C>T;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.590-1965C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:275:31.32:31.32:0.00:1.00:1.00:0.00:60:68.2:0:0:62:88:34:NM_001037341.1(PDE4B) c.635-1965C>T,NM_001037341.1(PDE4B) c.635-1965C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 66796248 rs910693 A G 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3175,G/0.6825;PC=0.043;Gene=PDE4B/NM_001037341.1/1;CC=c.635-1943A>G;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.359-1943A>G;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.635-1943A>G;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.410-1943A>G;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.590-1943A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:7:7:0:0:1,6:19,185:0.00,20.12:0.00,20.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:40.0,68.2:0,0:0,0:125,61:26,87:0,18:-,NM_001037341.1(PDE4B) c.635-1943A>G:-,0.66:-,NOT_FOUND 1 66796523 . G . . NT END=66797431;NT GT ./. 1 66798304 . G . . NT END=66820060;NT GT ./. 1 66819874 rs508098 C T 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2921,T/0.7079;Gene=PDE4B/NM_001037341.1/1;CC=c.748-1336C>T;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.472-1336C>T;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.748-1336C>T;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.523-1336C>T;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.703-1336C>T;VC=Intron;Gene=PDE4B/NM_001037339.2/0;CC=c.232-1336C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:184:21.26:21.26:0.00:1.00:1.00:0.00:60:32.7:0:0:37:113:21:NM_001037341.1(PDE4B) c.748-1336C>T,NM_001037341.1(PDE4B) c.748-1336C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 66820578 . G . . NT END=66821209;NT GT ./. 1 66821304 . G . . NT END=66827297;NT GT ./. 1 66827477 . G . . NT END=66828850;NT GT ./. 1 66828699 rs783040 T C 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1759,C/0.8241;Gene=PDE4B/NM_001037341.1/1;CC=c.1021-152T>C;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.745-152T>C;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.1021-152T>C;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.796-152T>C;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.976-152T>C;VC=Intron;Gene=PDE4B/NM_001037339.2/0;CC=c.505-152T>C;VC=Intron;Gene=PDE4B/NM_001297442.1/0;CC=c.322-152T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:377:42.95:42.95:0.00:1.00:1.00:0.00:60:34.3:0:0:29:122:29:NM_001037341.1(PDE4B) c.1021-152T>C,NM_001037341.1(PDE4B) c.1021-152T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 66828950 . G . . NT END=66829089;NT GT ./. 1 66829255 . G . . NT END=66831349;NT GT ./. 1 66829262 rs783039 A G 215 nt VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.131,G/0.869;PC=0.959;Gene=PDE4B/NM_001037341.1/1;CC=c.1284+8A>G;VC=Intron;Gene=PDE4B/NM_001297440.1/0;CC=c.1008+8A>G;VC=Intron;Gene=PDE4B/NM_002600.3/0;CC=c.1284+8A>G;VC=Intron;Gene=PDE4B/NM_001297441.1/0;CC=c.1059+8A>G;VC=Intron;Gene=PDE4B/NM_001037340.2/0;CC=c.1239+8A>G;VC=Intron;Gene=PDE4B/NM_001037339.2/0;CC=c.768+8A>G;VC=Intron;Gene=PDE4B/NM_001297442.1/0;CC=c.585+8A>G;VC=Intron;DM=PDE4B/PDEase_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:25:0:0:58:1877:215.29:68.25:147.04:1.00:1.00:1.00:60:46.8:0:0:102:37:22:NM_001037341.1(PDE4B) c.1284+8A>G,NM_001037341.1(PDE4B) c.1284+8A>G:0.85,0.85:0.790943,0.790943 1 66831450 . G . . NT END=66833378;NT GT ./. 1 66833534 . G . . NT END=66833625;NT GT ./. 1 66833749 . G . . NT END=66834469;NT GT ./. 1 66834653 . G . . NT END=66837995;NT GT ./. 1 66838362 . T . . NT END=67000041;NT GT ./. 1 67000052 . G . . NT END=67091529;NT GT ./. 1 67091594 . G . . NT END=67098752;NT GT ./. 1 67098778 . G . . NT END=67099762;NT GT ./. 1 67099847 . G . . NT END=67101626;NT GT ./. 1 67101699 . G . . NT END=67105459;NT GT ./. 1 67105517 . G . . NT END=67108492;NT GT ./. 1 67108548 . A . . NT END=67109226;NT GT ./. 1 67109403 . G . . NT END=67126195;NT GT ./. 1 67126208 . G . . NT END=67133212;NT GT ./. 1 67133225 . G . . NT END=67136677;NT GT ./. 1 67136703 . G . . NT END=67137626;NT GT ./. 1 67137679 . G . . NT END=67138963;NT GT ./. 1 67139050 . G . . NT END=67142686;NT GT ./. 1 67142780 . G . . NT END=67145360;NT GT ./. 1 67145436 . G . . NT END=67147551;NT GT ./. 1 67148053 . G . . NT END=67154830;NT GT ./. 1 67154730 rs35898963 CA C 23 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=SGIP1/NM_001308203.1/0;CC=c.719-84delA;VC=Intron;Gene=SGIP1/NM_032291.3/1;CC=c.1316-84delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:40:38:3:14:2,26,3,9:20,854,98,394:0.15,0.00,6.94,22.71:-0.45,0.00,7.04,23.05:0.60,0.00,-0.11,-0.34:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.76:60,60,60,60:67.0,32.8,0.0,32.7:0,0,0,4:0,0,0,0:31,32,18,35:119,117,133,116:4,21,11,29:-,NM_032291.2(SGIP1) c.1316-100delA:-,NOT_FOUND:-,NOT_FOUND 1 67154959 . G . . NT END=67155872;NT GT ./. 1 67156000 . G . . NT END=67160121;NT GT ./. 1 67159899 rs5774832 CT C 21 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CT/0.3596,C/0.6404;DB;DBA=NA;PAF=CT/0.3596,C/0.6404;NP=81;PC=0.686;Gene=SGIP1/NM_001308203.1/0;CC=c.974-209delT;VC=Intron;Gene=SGIP1/NM_032291.3/1;CC=c.1571-1204delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:CT,I,C:13:13:1:7:5,1,7:169,30,208:0.00,2.19,20.57:0.00,2.19,20.57:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,70:17.6,98.0,52.7:0,0,0:0,0,0:112,10,20:36,141,123:26,0,7:-,NM_032291.2(SGIP1) c.1571-1217delT:-,NOT_FOUND:-,NOT_FOUND 1 67160188 . G . . NT END=67161116;NT GT ./. 1 67161177 . G . . NT END=67184976;NT GT ./. 1 67185089 . G . . NT END=67194946;NT GT ./. 1 67195103 . G . . NT END=67199430;NT GT ./. 1 67195184 rs1032635 C G 169 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6873,G/0.3127;PC=0.001;Gene=SGIP1/NM_001308203.1/0;CC=c.1307+82C>G;VC=Intron;Gene=SGIP1/NM_032291.3/1;CC=c.1898+82C>G;VC=Intron;DM=SGIP1/muHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:45:7:0:0:45:1472:168.60:17.85:150.75:1.00:1.00:1.00:60:64.5:0:0:93:58:43:NM_032291.2(SGIP1) c.1898+82C>G,NM_032291.2(SGIP1) c.1898+82C>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 67195192 rs1032634 C G 142 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.7338,G/0.2662;Gene=SGIP1/NM_001308203.1/0;CC=c.1307+90C>G;VC=Intron;Gene=SGIP1/NM_032291.3/1;CC=c.1898+90C>G;VC=Intron;DM=SGIP1/muHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:7:0:0:39:1236:142.13:15.79:126.34:1.00:1.00:1.00:60:68.0:0:0:87:63:42:NM_032291.2(SGIP1) c.1898+90C>G,NM_032291.2(SGIP1) c.1898+90C>G:0.29,0.29:NOT_FOUND,NOT_FOUND 1 67195353 rs2483704 G A 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7336,A/0.2664,C/.;Gene=SGIP1/NM_001308203.1/0;CC=c.1307+251G>A;VC=Intron;Gene=SGIP1/NM_032291.3/1;CC=c.1898+251G>A;VC=Intron;DM=SGIP1/muHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:207:23.56:0.00:23.56:1.00:0.00:1.00:60:38.2:0:0:58:92:28:NM_032291.2(SGIP1) c.1898+251G>A,NM_032291.2(SGIP1) c.1898+251G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 67199564 . G . . NT END=67205017;NT GT ./. 1 67205221 . G . . NT END=67206340;NT GT ./. 1 67205327 rs473470 C T 129 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.4157,T/0.5843;Gene=SGIP1/NM_001308203.1/0;CC=c.1643+107C>T;VC=Intron;Gene=SGIP1/NM_032291.3/1;CC=c.2234+107C>T;VC=Intron;DM=SGIP1/muHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G,T:38:0:0:0:1,37:23,1120:1.22,129.14:0.00,0.00:1.22,129.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:50.0,46.7:0,0:0,0:97,107:36,41:0,22:NM_032291.2(SGIP1) c.2234+107C>T,NM_032291.2(SGIP1) c.2234+107C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 67206406 . G . . NT END=67206954;NT GT ./. 1 67207120 . G . . NT END=67208755;NT GT ./. 1 67208779 . T . . NT END=67218178;NT GT ./. 1 67218004 rs500905 C G 86 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4782,G/0.5218 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:27:0:0:27:735:86.22:86.22:0.00:1.00:1.00:0.00:60:41.6:0:0:40:111:23:NM_152665.2(TCTEX1D1) c.-131-u136C>G,NM_152665.2(TCTEX1D1) c.-131-u136C>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 67218268 . G . . NT END=67220338;NT GT ./. 1 67220461 . G . . NT END=67236069;NT GT ./. 1 67220642 rs488584 A T 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=TCTEX1D1/NM_152665.2/1;CC=c.119+182A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:349:40.57:0.00:40.57:1.00:0.00:1.00:60:56.8:0:0:91:57:41:NM_152665.2(TCTEX1D1) c.119+182A>T,NM_152665.2(TCTEX1D1) c.119+182A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 67236162 . G . . NT END=67241961;NT GT ./. 1 67242087 . G . . NT END=67242933;NT GT ./. 1 67243138 . T . . NT END=67263695;NT GT ./. 1 67263929 . C . . NT END=67266729;NT GT ./. 1 67266756 rs549148 T A 202 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.1288,A/0.8712;Gene=INSL5/NM_005478.4/1;CC=c.149A>T;ProtCh=p.Q50L;VC=Missense;DM=INSL5/Insulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A:51:37:0:0:51:1772:201.52:110.94:90.58:1.00:1.00:1.00:60:40.2:0:0:62:74:24:NM_005478.4(INSL5) c.149A>T (p.Gln50Leu),NM_005478.4(INSL5) c.149A>T (p.Gln50Leu):0.88,0.88:0.842611,0.842611 1 67266905 . T . . NT END=67279812;NT GT ./. 1 67267080 rs17495511 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9079,T/0.09205 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,T:12:0:0:0:5,7:136,235:0.00,23.30:0.00,0.00:0.00,23.30:0.00,0.99:0.00,0.00:0.00,0.99:60,60:8.6,35.4:0,0:0,0:47,126:104,25:46,16:-,NM_005478.4(INSL5) c.-38-u138G>A:-,0.12:-,NOT_FOUND 1 67279864 . C . . NT END=67288043;NT GT ./. 1 67279881 rs74609208 C A 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9537,A/0.04633;PC=0.001;Gene=WDR78/NM_024763.4/1;CC=c.2497-18G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:44:27:0:0:17,27:503,918:45.64,0.00:20.04,0.00:25.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.5,2.4:0,0:0,0:83,98:54,33:14,24:NM_024763.4(WDR78) c.2497-18G>T,-:0.03,-:0.056208,- 1 67280110 rs533430 G T 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1663,T/0.8337;PC=0.110;Gene=WDR78/NM_024763.4/1;CC=c.2497-247C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:138:15.71:0.00:15.71:1.00:0.00:1.00:60:51.5:0:0:96:54:40:NM_024763.4(WDR78) c.2497-247C>A,NM_024763.4(WDR78) c.2497-247C>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 67288045 rs482082 C T 195 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.4852,T/0.5148;PC=0.998;Gene=WDR78/NM_024763.4/1;CC=c.2495G>A;ProtCh=p.R832Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:T:50:44:0:0:50:1710:194.85:143.65:51.20:1.00:1.00:1.00:60:38.4:0:0:54:90:39:NM_024763.4(WDR78) c.2495G>A (p.Arg832Gln),NM_024763.4(WDR78) c.2495G>A (p.Arg832Gln):0.54,0.54:0.516146,0.516146 1 67288201 . C . . NT END=67292502;NT GT ./. 1 67292730 . C . . NT END=67293494;NT GT ./. 1 67292737 rs145013650 TA T 12 rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=27;PC=0.030;Gene=WDR78/NM_024763.4/1;CC=c.2113-9delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TA,T:46:19:0:5:41,5:1256,165:0.00,12.03:0.00,5.18:0.00,6.85:0.00,0.74:0.00,0.80:0.00,0.96:60,60:16.5,18.6:0,0:0,0:99,87:43,62:20,7:-,NM_024763.4(WDR78) c.2113-9delT:-,NOT_FOUND:-,0.011316 1 67293594 . C . . NT END=67299267;NT GT ./. 1 67299390 . C . . NT END=67299673;NT GT ./. 1 67299832 . C . . NT END=67301308;NT GT ./. 1 67301096 rs3738168 T C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8968,C/0.1032;PC=0.001;Gene=WDR78/NM_024763.4/1;CC=c.1733+213A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,C,T:5:5:0:0:1,2,2:11,71,65:0.70,6.81,0.00:0.70,6.81,0.00:0.00,0.00,0.00:0.00,0.46,0.00:0.00,0.46,0.00:0.00,0.00,0.00:60,60,60:11.0,35.5,0.0:0,0,0:0,0,0:16,51,71:134,98,78:0,32,30:NM_024763.4(WDR78) c.1733+213A>G,-:0.1,-:NOT_FOUND,- 1 67301461 . C . . NT END=67303281;NT GT ./. 1 67303047 rs529364212 C CA 6 end,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;NP=2;PC=0.004;Gene=WDR78/NM_024763.4/1;CC=c.1581+345_1581+346insT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,CA:3:4:3:0:1,2:19,95:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:59.0,57.5:0,1:0,0:6,8:145,143:0,0:-,NM_024763.4(WDR78) c.1581+345_1581+346insT:-,NOT_FOUND:-,NOT_FOUND 1 67303303 rs6698076 A G 73 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.5012,G/0.4988;PC=0.004;Gene=WDR78/NM_024763.4/1;CC=c.1581+90T>C;VC=Intron;Gene=WDR78/NM_207014.2/0;CC=c.*33T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:59:49:0:0:31,1,27:960,11,777:0.00,-0.03,73.09:0.00,-0.16,55.21:0.00,0.12,17.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.4,24.0,36.4:0,0,0:0,0,0:53,56,42:98,94,96:24,0,28:-,NM_024763.4(WDR78) c.1581+90T>C:-,0.46:-,0.393917 1 67303480 . C . . NT END=67306151;NT GT ./. 1 67306355 . C . . NT END=67313166;NT GT ./. 1 67306616 rs12030322 G A 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4864,A/0.5136;Gene=WDR78/NM_024763.4/1;CC=c.1292-262C>T;VC=Intron;Gene=WDR78/NM_207014.2/0;CC=c.1292-262C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:8:0:0:0:5,3:158,103:15.89,0.00:0.00,0.00:15.89,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:36.4,27.3:0,0:0,0:123,112:28,39:17,25:NM_024763.4(WDR78) c.1292-262C>T,-:0.47,-:NOT_FOUND,- 1 67313362 . C . . NT END=67327829;NT GT ./. 1 67327986 . C . . NT END=67337052;NT GT ./. 1 67337193 . C . . NT END=67340463;NT GT ./. 1 67340621 . C . . NT END=67356836;NT GT ./. 1 67356950 . C . . NT END=67358911;NT GT ./. 1 67358746 . GAGAA G 13 rn VT=DEL;SST=Single;DP=10;NP=9;PC=0.026;Gene=WDR78/NM_024763.4/1;CC=c.530+162_530+165delTTCT;VC=Intron;Gene=WDR78/NM_207014.2/0;CC=c.530+162_530+165delTTCT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:GAGAA,G:9:10:0:5:5,4:168,167:0.00,12.61:0.00,12.61:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:14.4,0.0:0,1:0,0:54,38:96,112:12,23:-,NM_024763.4(WDR78) c.530+162_530+165delTTCT:-,NOT_FOUND:-,NOT_FOUND 1 67359097 . C . . NT END=67370883;NT GT ./. 1 67359195 rs3008881 T A 23 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6781,A/0.3219;PC=0.007;Gene=WDR78/NM_024763.4/1;CC=c.346-99A>T;VC=Intron;Gene=WDR78/NM_207014.2/0;CC=c.346-99A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,T:12:3:0:0:7,5:231,152:22.90,0.00:-0.76,0.00:23.66,0.00:0.99,0.00:0.93,0.00:1.00,0.00:60,60:33.0,10.6:0,0:0,0:100,137:51,14:25,2:NM_024763.4(WDR78) c.346-99A>T,-:0.3,-:NOT_FOUND,- 1 67371059 . C . . NT END=67390344;NT GT ./. 1 67374968 rs71058481 T A,TACACACACAC 15 idl;end,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3047,TAC/.,TACACACACAC/0.6953,TACACACACACACACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=3;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,TACACACACAC:5:5:5:0:1,4:11,171:0.82,14.90:0.00,7.50:0.82,7.40:0.00,0.93:0.00,0.99:0.00,0.99:60,60:170.0,3.2:0,1:0,0:0,48:151,71:0,4:NM_024763.4(WDR78) c.171-3910A>T,NM_024763.4(WDR78) c.171-3911_171-3910insGTGTGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 67390416 rs3008858 G C 519 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=143;DB;DBA=NA;PAF=G/0.1621,C/0.8379;Gene=WDR78/NM_024763.4/1;CC=c.99C>G;ProtCh=p.C33W;VC=Missense;Gene=WDR78/NM_207014.2/0;CC=c.99C>G;ProtCh=p.C33W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:143:111:0:0:143:4511:519.04:324.64:194.41:1.00:1.00:1.00:60:57.4:0:0:72:76:36:NM_024763.4(WDR78) c.99C>G (p.Cys33Trp),NM_024763.4(WDR78) c.99C>G (p.Cys33Trp):0.81,0.81:0.768415,0.768415 1 67390468 rs1886686 C G 634 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=C/0.1573,G/0.8427;PC=0.394;Gene=WDR78/NM_024763.4/1;CC=c.47G>C;ProtCh=p.G16A;VC=Missense;Gene=WDR78/NM_207014.2/0;CC=c.47G>C;ProtCh=p.G16A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:170:118:0:0:170:5538:634.40:351.49:282.91:1.00:1.00:1.00:60:59.8:0:0:59:86:33:NM_024763.4(WDR78) c.47G>C (p.Gly16Ala),NM_024763.4(WDR78) c.47G>C (p.Gly16Ala):0.82,0.82:0.772413,0.772413 1 67390515 . G . . NT END=67390711;NT GT ./. 1 67390779 . G . . NT END=67391049;NT GT ./. 1 67390999 rs3008859 G C 342 nt VT=SNV;PN=C;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.1619,C/0.8381;PC=0.002;Gene=MIER1/NM_001278215.1/0;CC=c.-116+221G>C;VC=Intron;Gene=MIER1/NM_001077700.2/0;CC=c.67+221G>C;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.-116+221G>C;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.67+221G>C;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.-119+221G>C;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.-116+221G>C;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.-209+221G>C;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.-136+221G>C;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.-116+221G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:66:0:0:95:2967:341.80:186.34:155.46:1.00:1.00:1.00:60:69.8:0:0:60:88:40:NM_020948.3(MIER1) c.-116+221G>C,NM_020948.3(MIER1) c.-116+221G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 67391003 rs3008860 G C 354 nt VT=SNV;PN=T;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.1613,C/0.8387;Gene=MIER1/NM_001278215.1/0;CC=c.-116+225G>C;VC=Intron;Gene=MIER1/NM_001077700.2/0;CC=c.67+225G>C;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.-116+225G>C;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.67+225G>C;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.-119+225G>C;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.-116+225G>C;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.-209+225G>C;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.-136+225G>C;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.-116+225G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:68:0:0:96:3082:353.82:188.37:165.44:1.00:1.00:1.00:60:69.8:0:0:64:84:39:NM_020948.3(MIER1) c.-116+225G>C,NM_020948.3(MIER1) c.-116+225G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 67391065 . G . . NT END=67391175;NT GT ./. 1 67391218 . G . . NT END=67391824;NT GT ./. 1 67391926 . G . . NT END=67394569;NT GT ./. 1 67394647 . G . . NT END=67395925;NT GT ./. 1 67396084 . G . . NT END=67405705;NT GT ./. 1 67396222 rs3008861 T G 106 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.1206,G/0.8794;PC=0.139;Gene=MIER1/NM_001278215.1/0;CC=c.60+1576T>G;VC=Intron;Gene=MIER1/NM_001077700.2/0;CC=c.168+4297T>G;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.60+1576T>G;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.168+4297T>G;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.60+1576T>G;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.60+1576T>G;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.-73+1576T>G;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.-35+4297T>G;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.60+1576T>G;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.9+139T>G;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.9+139T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:A,G,T:30:0:0:0:1,28,1:10,942,12:0.25,105.65,0.00:0.00,0.00,0.00:0.25,105.65,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:240.0,50.9,22.0:0,0,0:0,0,0:121,108,85:30,43,66:0,30,0:NM_020948.3(MIER1) c.60+1576T>G,NM_020948.3(MIER1) c.60+1576T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 67396739 rs12562761 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3702,T/0.6298;Gene=MIER1/NM_001278215.1/0;CC=c.60+2093C>T;VC=Intron;Gene=MIER1/NM_001077700.2/0;CC=c.168+4814C>T;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.60+2093C>T;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.168+4814C>T;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.60+2093C>T;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.60+2093C>T;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.-73+2093C>T;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.-35+4814C>T;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.60+2093C>T;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.9+656C>T;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.9+656C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:133:15.21:3.83:11.38:1.00:1.00:1.00:60:44.5:0:0:113:32:17:NM_020948.3(MIER1) c.60+2093C>T,NM_020948.3(MIER1) c.60+2093C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 67405736 . G . . NT END=67411832;NT GT ./. 1 67412723 . t . . NT END=67413571;NT GT ./. 1 67412822 rs2985825 T G 49 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.1567,G/0.8433;Gene=MIER1/NM_001278215.1/0;CC=c.*829T>G;VC=3UTR;Gene=MIER1/NM_001077700.2/0;CC=c.339+844T>G;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.231+844T>G;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.339+844T>G;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.231+844T>G;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.231+844T>G;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.99+844T>G;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.-10+7087T>G;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.231+844T>G;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.180+844T>G;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.180+844T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:0:0:0:14:426:49.26:0.00:49.26:1.00:0.00:1.00:60:52.3:0:0:62:88:22:NM_020948.3(MIER1) c.231+844T>G,NM_020948.3(MIER1) c.231+844T>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 67412918 rs2985826 G C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1611,C/0.8389,T/.;Gene=MIER1/NM_001278215.1/0;CC=c.*925G>C;VC=3UTR;Gene=MIER1/NM_001077700.2/0;CC=c.339+940G>C;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.231+940G>C;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.339+940G>C;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.231+940G>C;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.231+940G>C;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.99+940G>C;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.-10+7183G>C;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.231+940G>C;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.180+940G>C;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.180+940G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:247:28.50:0.00:28.50:1.00:0.00:1.00:60:67.4:0:0:113:36:31:NM_020948.3(MIER1) c.231+940G>C,NM_020948.3(MIER1) c.231+940G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 67413478 rs912797 A G 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1609,G/0.8391;Gene=MIER1/NM_001278215.1/0;CC=c.*1485A>G;VC=3UTR;Gene=MIER1/NM_001077700.2/0;CC=c.339+1500A>G;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.231+1500A>G;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.339+1500A>G;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.231+1500A>G;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.231+1500A>G;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.99+1500A>G;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.-10+7743A>G;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.231+1500A>G;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.180+1500A>G;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.180+1500A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:18:0:0:19:535:62.52:58.94:3.58:1.00:1.00:1.00:60:35.7:0:0:26:125:26:NM_020948.3(MIER1) c.231+1500A>G,NM_020948.3(MIER1) c.231+1500A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 67413924 . T . . NT END=67423741;NT GT ./. 1 67423904 . G . . NT END=67424533;NT GT ./. 1 67423997 rs146392518 T TTTCTC 62 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1611,TTTCTC/0.8389;NP=2121;Gene=MIER1/NM_001077700.2/0;CC=c.501+97_501+98insTCTTC;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.393+97_393+98insTCTTC;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.501+97_501+98insTCTTC;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.393+97_393+98insTCTTC;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.393+97_393+98insTCTTC;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.261+97_261+98insTCTTC;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.153+97_153+98insTCTTC;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.393+97_393+98insTCTTC;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.342+97_342+98insTCTTC;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.342+97_342+98insTCTTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:T,TTTCTC:23:7:19:0:4,19:126,578:0.00,62.23:0.00,5.77:0.00,56.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,6.5:0,0:0,0:138,108:4,38:7,22:-,NM_020948.3(MIER1) c.393+94_393+95insTTCTC:-,NOT_FOUND:-,NOT_FOUND 1 67424667 . G . . NT END=67425361;NT GT ./. 1 67425311 rs2985794 T G 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1611,A/.,G/0.8389;Gene=MIER1/NM_001077700.2/0;CC=c.635-51T>G;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.527-51T>G;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.635-51T>G;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.527-51T>G;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.527-51T>G;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.395-51T>G;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.287-51T>G;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.527-51T>G;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.476-51T>G;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.476-51T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:20:0:0:21:701:80.11:66.49:13.62:1.00:1.00:1.00:60:35.5:0:0:51:100:28:NM_020948.3(MIER1) c.527-51T>G,NM_020948.3(MIER1) c.527-51T>G:0.82,0.82:0.771818,0.771818 1 67425427 . G . . NT END=67428770;NT GT ./. 1 67425494 rs527550827 A AT 50 sb,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1177;NP=16;PC=0.041;Gene=MIER1/NM_001077700.2/0;CC=c.699+79dupT;VC=Intron;Gene=MIER1/NM_001077702.2/0;CC=c.591+79dupT;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.699+79dupT;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.591+79dupT;VC=Intron;Gene=MIER1/NM_001146111.1/0;CC=c.591+79dupT;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.459+79dupT;VC=Intron;Gene=MIER1/NM_001146113.1/0;CC=c.351+79dupT;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.591+79dupT;VC=Intron;Gene=MIER1/NM_001077701.2/0;CC=c.540+79dupT;VC=Intron;Gene=MIER1/NM_001077704.2/0;CC=c.540+79dupT;VC=Intron;DM=MIER1/ELM2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,AT:19:3:16:0:4,15:128,504:0.00,49.96:0.00,1.22:0.00,48.73:0.00,1.00:0.00,0.99:0.00,1.00:60,60:3.5,2.5:0,1:0,0:116,94:34,56:15,28:-,NM_020948.3(MIER1) c.591+68_591+69insT:-,NOT_FOUND:-,NOT_FOUND 1 67428844 . G . . NT END=67436490;NT GT ./. 1 67436643 . G . . NT END=67437337;NT GT ./. 1 67437420 . G . . NT END=67438579;NT GT ./. 1 67438675 . G . . NT END=67442277;NT GT ./. 1 67442406 . G . . NT END=67447461;NT GT ./. 1 67447602 . G . . NT END=67450254;NT GT ./. 1 67451497 rs200012221 AT A 47 idl,rn VT=DEL;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=3;PC=0.002;Gene=MIER1/NM_001077700.2/0;CC=c.*937delT;VC=3UTR;Gene=MIER1/NM_001077702.2/0;CC=c.1283-566delT;VC=Intron;Gene=MIER1/NM_001077703.2/0;CC=c.1391-566delT;VC=Intron;Gene=MIER1/NM_001146110.1/0;CC=c.*937delT;VC=3UTR;Gene=MIER1/NM_001146111.1/0;CC=c.1343-566delT;VC=Intron;Gene=MIER1/NM_001146112.1/0;CC=c.*937delT;VC=3UTR;Gene=MIER1/NM_001146113.1/0;CC=c.1043-566delT;VC=Intron;Gene=MIER1/NM_020948.3/1;CC=c.*937delT;VC=3UTR;Gene=MIER1/NM_001077701.2/0;CC=c.*937delT;VC=3UTR;Gene=MIER1/NM_001077704.2/0;CC=c.1232-566delT;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,G,T,I,A:72:50:10:20:44,1,3,6,18:1333,12,74,314,617:0.00,-0.05,4.01,13.56,47.24:0.00,0.08,3.00,8.13,26.12:0.00,-0.14,1.00,5.43,21.12:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:33.6,27.0,39.3,95.3,24.9:0,0,1,4,2:0,0,0,0,0:111,117,101,86,73:24,24,50,64,65:24,0,44,22,25:-,NM_020948.3(MIER1) c.*915T[22]:-,NOT_FOUND:-,NOT_FOUND 1 67452157 . A . . NT END=67470022;NT GT ./. 1 67470132 . C . . NT END=67474039;NT GT ./. 1 67473977 rs2755266 A G 88 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.3876,G/0.6124;PC=0.003;Gene=SLC35D1/NM_015139.2/1;CC=c.959+791T>C;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:A,G:29:28:0:0:1,28:32,765:0.00,87.58:0.00,86.17:0.00,1.42:0.00,1.00:0.00,1.00:0.00,0.98:60,60:131.0,36.7:0,0:0,0:4,54:145,94:0,41:NM_015139.2(SLC35D1) c.959+791T>C,NM_015139.2(SLC35D1) c.959+791T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 1 67474131 . C . . NT END=67474767;NT GT ./. 1 67474851 . c . . NT END=67486051;NT GT ./. 1 67474977 rs2755271 C T 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.367,T/0.633;Gene=SLC35D1/NM_015139.2/1;CC=c.877-127G>A;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:290:33.70:0.00:33.70:1.00:0.00:1.00:60:38.9:0:0:105:45:19:NM_015139.2(SLC35D1) c.877-127G>A,NM_015139.2(SLC35D1) c.877-127G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 67486131 . C . . NT END=67487217;NT GT ./. 1 67487119 rs2065002 C A 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3678,A/0.6322;Gene=SLC35D1/NM_015139.2/1;CC=c.797+99G>T;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:13:0:0:14:407:47.27:41.56:5.72:1.00:1.00:1.00:60:36.5:0:0:37:113:23:NM_015139.2(SLC35D1) c.797+99G>T,NM_015139.2(SLC35D1) c.797+99G>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 67487286 . C . . NT END=67497706;NT GT ./. 1 67487374 rs66809311 TCCAACA T 31 idl,nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=TCCAACA/0.3796,T/0.6204;DB;DBA=NA;PAF=TCCAACA/0.3796,T/0.6204;NP=18;Gene=SLC35D1/NM_015139.2/1;CC=c.730-95_730-90delTGTTGG;VC=Intron;DM=SLC35D1/TPT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCCAACA,T:22:12:0:17:10,12:283,440:0.00,31.49:0.00,15.23:0.00,16.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.4,141.7:1,5:0,0:144,70:5,80:5,13:-,NM_015139.2(SLC35D1) c.730-95_730-90delTGTTGG:-,NOT_FOUND:-,NOT_FOUND 1 67487376 rs61780038 C A 15 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4465,A/0.5535;NP=169;Gene=SLC35D1/NM_015139.2/1;CC=c.730-91G>T;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:18:4:135:15.41:7.65:7.75:1.00:1.00:1.00:60:83.5:0:0:138:12:3:NM_015139.2(SLC35D1) c.730-91G>T,NM_015139.2(SLC35D1) c.730-91G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 67487377 rs61780039 A G 16 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8478,G/0.1522;NP=103;PC=0.001;Gene=SLC35D1/NM_015139.2/1;CC=c.730-92T>C;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:18:4:136:15.51:7.75:7.75:1.00:1.00:1.00:60:83.5:0:0:139:11:3:NM_015139.2(SLC35D1) c.730-92T>C,NM_015139.2(SLC35D1) c.730-92T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 67487383 . G C 7 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;Gene=SLC35D1/NM_015139.2/1;CC=c.730-98C>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,G:18:6:0:4:3,15:93,448:7.22,0.00:-0.44,0.00:7.65,0.00:0.52,0.00:0.64,0.00:0.85,0.00:60,60:169.7,98.9:2,12:0,0:48,86:103,65:39,26:NM_015139.2(SLC35D1) c.730-98C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 67487389 rs11576749 G C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.054;Gene=SLC35D1/NM_015139.2/1;CC=c.730-104C>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,G:19:6:0:2:3,16:98,450:7.64,0.00:-0.41,0.00:8.05,0.00:0.51,0.00:0.62,0.00:0.85,0.00:60,60:174.3,94.0:1,14:0,0:28,72:123,78:18,24:NM_015139.2(SLC35D1) c.730-104C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 67487391 . CACAG C 12 idl,nt VT=DEL;SST=Single;DP=21;PC=0.005;Gene=SLC35D1/NM_015139.2/1;CC=c.730-110_730-107delCTGT;VC=Intron;DM=SLC35D1/TPT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:CACAG,C:21:7:0:6:16,5:508,144:0.00,11.79:0.00,8.61:0.00,3.18:0.00,0.85:0.00,0.82:0.00,0.97:60,60:108.5,109.4:11,5:0,0:73,82:76,68:42,12:-,NM_015139.2(SLC35D1) c.730-110_730-107delCTGT:-,NOT_FOUND:-,NOT_FOUND 1 67487393 rs72331230 CAG C 8 idl,nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=7;PC=0.005;Gene=SLC35D1/NM_015139.2/1;CC=c.730-110_730-109delCT;VC=Intron;DM=SLC35D1/TPT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:CAG,C:15:3:0:10:12,3:409,101:0.00,8.27:0.00,3.13:0.00,5.14:0.00,0.55:0.00,0.53:0.00,0.90:60,60:116.6,77.7:5,0:0,0:67,75:83,74:34,4:-,NM_015139.2(SLC35D1) c.730-110_730-109delCT:-,NOT_FOUND:-,NOT_FOUND 1 67487395 rs11576752 G C 30 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3742,C/0.6258;PC=0.005;Gene=SLC35D1/NM_015139.2/1;CC=c.730-110C>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,G,I:11:1:1:11:8,2,1:282,50,29:29.79,0.00,2.26:-0.56,0.00,-0.04:30.36,0.00,2.30:1.00,0.00,0.00:0.82,0.00,0.00:1.00,0.00,0.00:60,60,60:133.5,75.5,47.0:2,2,0:0,0,0:71,59,28:78,91,103:36,19,0:NM_015139.2(SLC35D1) c.730-110C>G,-:0.56,-:NOT_FOUND,- 1 67487401 rs11576753 G C 77 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3684,C/0.6316;Gene=SLC35D1/NM_015139.2/1;CC=c.730-116C>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C,G:22:7:0:0:21,1:683,30:76.52,0.00:18.47,0.00:58.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:104.3,87.0:10,1:0,0:81,118:68,33:27,0:NM_015139.2(SLC35D1) c.730-116C>G,NM_015139.2(SLC35D1) c.730-116C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 67487407 rs35069681 G C 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3572,C/0.6428;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SLC35D1/NM_015139.2/1;CC=c.730-122C>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C,G:22:7:0:0:21,1:680,31:76.22,0.00:18.97,0.00:57.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:105.2,87.0:0,1:0,0:86,124:65,27:28,0:NM_015139.2(SLC35D1) c.730-122C>G,NM_015139.2(SLC35D1) c.730-122C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 67497613 rs1535365 T C 56 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3678,C/0.6322;PC=0.001;Gene=SLC35D1/NM_015139.2/1;CC=c.729+10306A>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:487:55.84:55.84:0.00:1.00:1.00:0.00:60:37.4:0:0:37:114:25:NM_015139.2(SLC35D1) c.729+10306A>G,NM_015139.2(SLC35D1) c.729+10306A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 67497788 . C . . NT END=67507918;NT GT ./. 1 67504517 rs386354020 T TAC 10 sb,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=87;Gene=SLC35D1/NM_015139.2/1;CC=c.729+3401_729+3402insGT;VC=Intron;DM=SLC35D1/TPT;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TAC:5:4:3:0:2,3:68,101:0.00,10.07:0.00,8.89:0.00,1.18:0.00,0.78:0.00,0.97:0.00,0.94:60,60:12.0,36.0:0,0:0,0:103,57:46,93:35,4:-,NM_015139.2(SLC35D1) c.729+3401_729+3402insGT:-,NOT_FOUND:-,NOT_FOUND 1 67504537 rs2755252 A C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SLC35D1/NM_015139.2/1;CC=c.729+3382T>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:1:4:128:14.71:7.60:7.10:1.00:1.00:1.00:60:34.5:0:0:77:73:12:NM_015139.2(SLC35D1) c.729+3382T>G,NM_015139.2(SLC35D1) c.729+3382T>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 67507734 rs2815375 T A 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2109,A/0.7891;PC=0.001;Gene=SLC35D1/NM_015139.2/1;CC=c.729+185A>T;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:35.2:0:0:64:86:50:NM_015139.2(SLC35D1) c.729+185A>T,NM_015139.2(SLC35D1) c.729+185A>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 67508012 . C . . NT END=67512947;NT GT ./. 1 67508080 rs10546548 CCACT C 59 sb,nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=CCACT/0.6262,C/0.3738;DB;DBA=NA;PAF=CCACT/0.6262,C/0.3738;NP=2053;Gene=SLC35D1/NM_015139.2/1;CC=c.637-73_637-70delAGTG;VC=Intron;DM=SLC35D1/TPT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:CCACT,C:21:2:0:18:3,18:73,546:0.00,59.47:0.00,1.06:0.00,58.41:0.00,1.00:0.00,0.98:0.00,1.00:60,60:0.0,1.8:0,0:0,0:148,81:2,69:0,39:-,NM_015139.2(SLC35D1) c.637-73_637-70delAGTG:-,0.36:-,NOT_FOUND 1 67512695 rs1024228 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2544,G/0.7456;Gene=SLC35D1/NM_015139.2/1;CC=c.636+253T>C;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:123:14.21:14.21:0.00:1.00:1.00:0.00:60:33.8:0:0:31:119:13:NM_015139.2(SLC35D1) c.636+253T>C,NM_015139.2(SLC35D1) c.636+253T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 67512903 rs1024229 G T 154 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.2905,T/0.7095;Gene=SLC35D1/NM_015139.2/1;CC=c.636+45C>A;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:T:43:40:0:0:43:1340:154.44:133.19:21.26:1.00:1.00:1.00:60:71.6:0:0:47:100:26:NM_015139.2(SLC35D1) c.636+45C>A,NM_015139.2(SLC35D1) c.636+45C>A:0.67,0.67:0.689048,0.689048 1 67512920 rs1024230 A C 176 nt VT=SNV;PN=A;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.2905,C/0.7095;Gene=SLC35D1/NM_015139.2/1;CC=c.636+28T>G;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:C:47:42:0:0:47:1532:175.51:140.96:34.55:1.00:1.00:1.00:60:65.5:0:0:58:89:27:NM_015139.2(SLC35D1) c.636+28T>G,NM_015139.2(SLC35D1) c.636+28T>G:0.67,0.67:0.68799,0.68799 1 67513051 . C . . NT END=67515464;NT GT ./. 1 67515228 rs2815382 G A 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4449,A/0.5551;Gene=SLC35D1/NM_015139.2/1;CC=c.533+237C>T;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:56.8:0:0:46:105:28:NM_015139.2(SLC35D1) c.533+237C>T,NM_015139.2(SLC35D1) c.533+237C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 1 67515309 rs2755257 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4463,T/0.5537;Gene=SLC35D1/NM_015139.2/1;CC=c.533+156G>A;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:301:34.39:34.39:0.00:1.00:1.00:0.00:60:51.0:0:0:79:72:31:NM_015139.2(SLC35D1) c.533+156G>A,NM_015139.2(SLC35D1) c.533+156G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 67515534 . C . . NT END=67516115;NT GT ./. 1 67516188 . C . . NT END=67517694;NT GT ./. 1 67516316 rs2815383 T A 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4852,A/0.5148;PC=0.043;Gene=SLC35D1/NM_015139.2/1;CC=c.393-129A>T;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:342:39.44:0.00:39.44:1.00:0.00:1.00:60:44.3:0:0:78:72:30:NM_015139.2(SLC35D1) c.393-129A>T,NM_015139.2(SLC35D1) c.393-129A>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 67517486 rs398074017 CA C 19 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CA/0.3359,C/0.6641;DB;DBA=NA;PAF=CA/0.3359,C/0.6641;DB;DBA=NA;PAF=CA/0.3359,C/0.6641;NP=526;Gene=SLC35D1/NM_015139.2/1;CC=c.392+208delT;VC=Intron;DM=SLC35D1/TPT;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:5:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:0.0:0:0:31:120:23:NM_015139.2(SLC35D1) c.392+208delT,NM_015139.2(SLC35D1) c.392+208delT:0.63,0.63:NOT_FOUND,NOT_FOUND 1 67517763 . C . . NT END=67518453;NT GT ./. 1 67518541 . C . . NT END=67518638;NT GT ./. 1 67518673 . C . . NT END=67519493;NT GT ./. 1 67519333 rs2251004 C G 58 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3049,G/0.6951;Gene=SLC35D1/NM_015139.2/1;CC=c.203+161G>C;VC=Intron;DM=SLC35D1/TPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:499:57.52:55.48:2.04:1.00:1.00:1.00:60:49.8:0:0:64:79:23:NM_015139.2(SLC35D1) c.203+161G>C,NM_015139.2(SLC35D1) c.203+161G>C:0.66,0.66:NOT_FOUND,NOT_FOUND 1 67519697 . G . . NT END=67558687;NT GT ./. 1 67558739 rs6588237 C T 242 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.07927,T/0.9207;PC=0.469;Gene=C1orf141/NM_001276351.1/0;CC=c.1152G>A;ProtCh=p.T384=;VC=Silent;Gene=C1orf141/NM_001276352.1/1;CC=c.*524G>A;VC=3UTR;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:51:0:0:68:2093:241.63:156.43:85.20:1.00:1.00:1.00:60:37.1:0:0:64:85:36:NM_001013674.1(C1orf141) c.1152G>A (p.(=)),NM_001013674.1(C1orf141) c.1152G>A (p.(=)):0.89,0.89:0.876827,0.876827 1 67559288 . C . . NT END=67560917;NT GT ./. 1 67560897 rs10889653 A G 141 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.06769,G/0.9323;PC=0.001;Gene=C1orf141/NM_001276351.1/0;CC=c.603+21T>C;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.629+1038T>C;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:G:40:39:0:0:40:1216:140.60:108.45:32.15:1.00:1.00:1.00:60:63.8:0:0:28:122:22:NM_001013674.1(C1orf141) c.603+21T>C,NM_001013674.1(C1orf141) c.603+21T>C:0.9,0.9:0.886171,0.886171 1 67560956 rs11208997 C T 218 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.0615,T/0.9385;PC=0.997;Gene=C1orf141/NM_001276351.1/0;CC=c.565G>A;ProtCh=p.V189I;VC=Missense;Gene=C1orf141/NM_001276352.1/1;CC=c.629+979G>A;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:T:59:50:0:0:59:1899:217.91:139.89:78.02:1.00:1.00:1.00:60:55.1:0:0:66:77:28:NM_001013674.1(C1orf141) c.565G>A (p.Val189Ile),NM_001013674.1(C1orf141) c.565G>A (p.Val189Ile):0.91,0.91:0.893555,0.893555 1 67561105 . C . . NT END=67561934;NT GT ./. 1 67561265 rs2145812 T A 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3772,A/0.6228;PC=0.024;Gene=C1orf141/NM_001276351.1/0;CC=c.417-161A>T;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.629+670A>T;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:309:35.19:0.00:35.19:1.00:0.00:1.00:60:37.0:0:0:121:28:15:NM_001013674.1(C1orf141) c.417-161A>T,NM_001013674.1(C1orf141) c.417-161A>T:0.62,0.62:NOT_FOUND,NOT_FOUND 1 67562005 . C . . NT END=67568920;NT GT ./. 1 67562106 rs6670381 G T 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2909,T/0.7091;Gene=C1orf141/NM_001276351.1/0;CC=c.347-102C>A;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.560-102C>A;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:355:40.74:0.00:40.74:1.00:0.00:1.00:60:37.6:0:0:69:82:17:NM_001013674.1(C1orf141) c.347-102C>A,NM_001013674.1(C1orf141) c.347-102C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 67567132 rs147291198 A AGTGTGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=3;NP=5;NP=8;Gene=C1orf141/NM_001276351.1/0;CC=c.347-5129_347-5128insACACACAC;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.559+1788_559+1789insACACACAC;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AGTGTGTGT:3:3:3:0:1,2:32,98:0.00,6.55:0.00,2.97:0.00,3.58:0.00,0.51:0.00,0.89:0.00,0.67:52,60:0.0,28.0:0,1:0,0:43,59:39,83:0,7:-,NM_001013674.1(C1orf141) c.347-5129_347-5128insACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 67568824 rs1885276 G T 70 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.08067,T/0.9193;Gene=C1orf141/NM_001276351.1/0;CC=c.347-6820C>A;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.559+97C>A;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:19:0:0:19:610:70.03:64.12:5.92:1.00:1.00:1.00:60:34.8:0:0:47:103:27:NM_001013674.1(C1orf141) c.347-6820C>A,NM_001013674.1(C1orf141) c.347-6820C>A:0.89,0.89:NOT_FOUND,NOT_FOUND 1 67569066 . C . . NT END=67577259;NT GT ./. 1 67577328 . C . . NT END=67579296;NT GT ./. 1 67577367 rs6588240 A T 68 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.1947,T/0.8053;PC=0.008;Gene=C1orf141/NM_001276351.1/0;CC=c.346+3668T>A;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.347-40T>A;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:11:0:0:18:594:67.98:28.88:39.11:1.00:1.00:1.00:60:34.0:0:0:110:35:18:NM_001013674.1(C1orf141) c.346+3668T>A,NM_001013674.1(C1orf141) c.346+3668T>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 67579209 rs2144654 C T 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.638,T/0.362;PC=0.001;Gene=C1orf141/NM_001276351.1/0;CC=c.346+1826G>A;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.346+1826G>A;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:280:32.27:32.27:0.00:1.00:1.00:0.00:60:77.7:0:0:42:109:15:NM_001013674.1(C1orf141) c.346+1826G>A,NM_001013674.1(C1orf141) c.346+1826G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 1 67579245 rs2144655 G A 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3407,A/0.6593;PC=0.001;Gene=C1orf141/NM_001276351.1/0;CC=c.346+1790C>T;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.346+1790C>T;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:15:0:0:15:492:56.35:52.37:3.98:1.00:1.00:1.00:60:64.5:0:0:63:86:23:NM_001013674.1(C1orf141) c.346+1790C>T,NM_001013674.1(C1orf141) c.346+1790C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 67579386 rs2144656 A G 111 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.08207,G/0.9179;PC=0.002;Gene=C1orf141/NM_001276351.1/0;CC=c.346+1649T>C;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.346+1649T>C;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:19:0:0:29:975:111.30:52.54:58.75:1.00:1.00:1.00:60:42.0:0:0:55:83:18:NM_001013674.1(C1orf141) c.346+1649T>C,NM_001013674.1(C1orf141) c.346+1649T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 67579440 . c . . NT END=67581034;NT GT ./. 1 67581148 . C . . NT END=67591434;NT GT ./. 1 67591347 rs6691094 A G 101 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.3882,G/0.6118;PC=0.035;Gene=C1orf141/NM_001276351.1/0;CC=c.233+88T>C;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.233+88T>C;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding;DM=C1orf141/DUF4545 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:G:31:31:0:0:31:865:100.97:99.14:1.84:1.00:1.00:1.00:60:44.5:0:0:51:100:28:NM_001013674.1(C1orf141) c.233+88T>C,NM_001013674.1(C1orf141) c.233+88T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 1 67591593 . C . . NT END=67592848;NT GT ./. 1 67591611 rs35590606 GA G 52 idl,rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=GA/0.4571,G/0.5429;DB;DBA=NA;PAF=GA/0.4571,G/0.5429;NP=16;PC=0.001;Gene=C1orf141/NM_001276351.1/0;CC=c.76-20delT;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.76-20delT;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding;DM=C1orf141/DUF4545;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:47:36:2:33:2,25,2,18:17,757,66,818:0.02,0.00,4.27,52.11:-0.20,0.00,4.47,34.67:0.22,0.00,-0.20,17.45:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:126.5,33.6,106.5,58.1:0,1,0,9:0,0,0,0:121,125,50,71:22,20,97,49:4,18,11,23:-,NM_001013674.1(C1orf141) c.76-20delT:-,NOT_FOUND:-,NOT_FOUND 1 67591660 rs4655520 G A 173 nt VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.2314,A/0.7686;Gene=C1orf141/NM_001276351.1/0;CC=c.76-68C>T;VC=Intron;Gene=C1orf141/NM_001276352.1/1;CC=c.76-68C>T;VC=Intron;Gene=C1orf141/NR_075077.1/0;VC=NonCoding;DM=C1orf141/DUF4545 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:21:0:0:50:1496:173.30:54.80:118.51:1.00:1.00:1.00:60:54.2:0:0:89:43:25:NM_001013674.1(C1orf141) c.76-68C>T,NM_001013674.1(C1orf141) c.76-68C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 1 67592924 . T . . NT END=67633803;NT GT ./. 1 67633812 rs1884444 G T 48 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4698,T/0.5302;PC=0.353;Gene=IL23R/NM_144701.2/1;CC=c.9G>T;ProtCh=p.Q3H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:37:27:0:0:22,15:701,514:0.00,47.72:0.00,27.20:0.00,20.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.0,36.7:0,0:0,0:56,64:90,82:26,27:-,NM_144701.2(IL23R) c.9G>T (p.Gln3His):-,0.52:-,0.518453 1 67633874 . G . . NT END=67635024;NT GT ./. 1 67635322 . G . . NT END=67648518;NT GT ./. 1 67648294 rs11465788 C T 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.516,T/0.484;PC=0.005;Gene=IL23R/NM_144701.2/1;CC=c.368-225C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:C,T:5:5:0:0:2,3:46,93:0.00,9.28:0.00,9.28:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:79.5,37.0:0,0:0,0:51,143:99,8:25,7:-,NM_144701.2(IL23R) c.368-225C>T:-,0.48:-,NOT_FOUND 1 67648460 rs6687620 T C 76 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.04792,C/0.9521;PC=0.007;Gene=IL23R/NM_144701.2/1;CC=c.368-59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:42:0:0:24,23:783,753:75.59,0.00:50.45,0.00:25.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,6.9:0,0:0,0:57,55:88,96:37,28:NM_144701.2(IL23R) c.368-59T>C,-:0.93,-:NOT_FOUND,- 1 67648644 . T . . NT END=67666419;NT GT ./. 1 67666582 . T . . NT END=67672592;NT GT ./. 1 67666812 rs59874202 G GC 20 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=217;Gene=IL23R/NM_144701.2/1;CC=c.652+234_652+235insC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:G,GC:8:0:6:0:2,6:58,193:0.00,20.21:0.00,0.00:0.00,20.21:0.00,1.00:0.00,0.00:0.00,1.00:60,70:52.5,2.3:0,0:0,0:150,118:1,32:0,20:-,NM_144701.2(IL23R) c.652+232_652+233insC:-,1:-,NOT_FOUND 1 67672567 rs557919248 CT C 19 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=CT/0.5731,C/0.4269;NP=1;PC=0.001;Gene=IL23R/NM_144701.2/1;CC=c.653-5delT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:CT,T,I,C:51:40:5:11:33,6,4,8:1026,124,149,310:0.00,8.03,8.19,19.09:0.00,-1.23,4.39,4.95:0.00,9.26,3.80,14.14:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.97:60,60,60,70:47.2,99.7,108.8,32.6:0,2,1,2:0,0,0,0:68,101,49,61:58,47,102,88:40,10,15,6:-,NM_144701.2(IL23R) c.653-25delT:-,NOT_FOUND:-,NOT_FOUND 1 67672589 rs35700985 C T 9 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=87;PC=0.348;Gene=IL23R/NM_144701.2/1;CC=c.653-4C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G,T:57:24:0:2:49,1,7:1497,12,142:0.00,-0.13,8.55:0.00,0.15,10.63:0.00,-0.29,-2.08:0.00,0.00,0.91:0.00,0.00,0.90:0.00,0.00,0.98:70,60,60:36.8,124.0,107.0:1,0,0:0,0,0:77,88,61:72,63,89:27,0,22:-,NM_144701.2(IL23R) c.653-4C>T:-,NOT_FOUND:-,NOT_FOUND 1 67672739 . G . . NT END=67685256;NT GT ./. 1 67672765 rs7539625 G A 77 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.6184,A/0.3816;PC=0.029;Gene=IL23R/NM_144701.2/1;CC=c.798+27G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:13:0:0:25,19:786,674:77.46,0.00:8.85,0.00:68.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,5.5:0,0:0,0:97,80:54,70:20,28:NM_144701.2(IL23R) c.798+27G>A,-:0.33,-:0.294326,- 1 67672911 rs7539643 C T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6306,T/0.3694;PC=0.005;Gene=IL23R/NM_144701.2/1;CC=c.798+173C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:4:0:0:0:2,2:42,69:0.00,6.66:0.00,0.00:0.00,6.66:0.00,0.51:0.00,0.00:0.00,0.51:60,60:9.5,34.5:0,0:0,0:90,117:60,32:42,22:-,NM_144701.2(IL23R) c.798+173C>T:-,0.32:-,NOT_FOUND 1 67685116 rs2863212 C T 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.1078,T/0.8922;PC=0.001;Gene=IL23R/NM_144701.2/1;CC=c.799-141C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:23:0:0:23:646:75.49:75.49:0.00:1.00:1.00:0.00:60:43.3:0:0:46:105:39:NM_144701.2(IL23R) c.799-141C>T,NM_144701.2(IL23R) c.799-141C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 67685387 rs7530511 T C 292 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.124,C/0.876;PC=0.185;Gene=IL23R/NM_144701.2/1;CC=c.929T>C;ProtCh=p.L310P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:83:42:0:0:82,1:2551,11:292.34,0.00:110.29,0.00:182.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,129.0:0,0:0,0:81,79:65,45:32,0:NM_144701.2(IL23R) c.929T>C (p.Leu310Pro),NM_144701.2(IL23R) c.929T>C (p.Leu310Pro):0.87,0.87:0.834,0.834 1 67685414 . G . . NT END=67702395;NT GT ./. 1 67685443 rs7518660 G A 89 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.5889,A/0.4111;Gene=IL23R/NM_144701.2/1;CC=c.955+30G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:27:0:0:27,29:930,951:89.04,0.00:25.57,0.00:63.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.5,28.2:0,0:0,0:101,94:50,48:20,21:NM_144701.2(IL23R) c.955+30G>A,-:0.43,-:0.470624,- 1 67685598 rs11465802 A C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.608,C/0.392,T/.;PC=0.033;Gene=IL23R/NM_144701.2/1;CC=c.955+185A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C:10:2:0:0:7,3:204,105:0.00,9.29:0.00,3.31:0.00,5.98:0.00,0.62:0.00,0.59:0.00,0.92:60,60:8.3,35.0:0,0:0,0:91,129:59,22:39,16:-,NM_144701.2(IL23R) c.955+185A>C:-,0.36:-,NOT_FOUND 1 67699612 rs57455484 CTGTGTG C 14 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;PC=0.008;Gene=IL23R/NM_144701.2/1;CC=c.956-2745_956-2740delTGTGTG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:CTGTGTG,C:8:6:0:6:3,5:100,173:0.00,14.14:0.00,6.14:0.00,8.00:0.00,0.96:0.00,0.99:0.00,0.98:60,60:69.0,16.6:0,1:0,0:101,43:36,103:12,8:-,NM_144701.2(IL23R) c.956-2783_956-2778delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 67702487 . T . . NT END=67705861;NT GT ./. 1 67705726 rs10889671 A G 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1178,G/0.8822;Gene=IL23R/NM_144701.2/1;CC=c.1046-136A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:299:34.19:34.19:0.00:1.00:1.00:0.00:60:52.6:0:0:51:99:38:NM_144701.2(IL23R) c.1046-136A>G,NM_144701.2(IL23R) c.1046-136A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 67705966 . T . . NT END=67721519;NT GT ./. 1 67721612 . T . . NT END=67724160;NT GT ./. 1 67724813 . G . . NT END=67786051;NT GT ./. 1 67786128 . G . . NT END=67787284;NT GT ./. 1 67787573 . G . . NT END=67792417;NT GT ./. 1 67787691 rs17129778 A T 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.8648,T/0.1352;Gene=IL12RB2/NM_001258214.1/0;CC=c.364+119A>T;VC=Intron;Gene=IL12RB2/NM_001258215.1/0;CC=c.364+119A>T;VC=Intron;Gene=IL12RB2/NM_001258216.1/0;CC=c.364+119A>T;VC=Intron;Gene=IL12RB2/NM_001559.2/1;CC=c.364+119A>T;VC=Intron;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:21:3:0:0:12,9:398,291:0.00,27.17:0.00,1.46:0.00,25.70:0.00,1.00:0.00,0.83:0.00,1.00:60,60:4.6,45.7:0,0:0,0:132,127:18,22:8,15:-,NM_001559.2(IL12RB2) c.364+119A>T:-,0.12:-,NOT_FOUND 1 67792533 . G . . NT END=67793882;NT GT ./. 1 67794068 . G . . NT END=67795269;NT GT ./. 1 67795319 rs1495963 T C 151 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.1498,C/0.8502;Gene=IL12RB2/NM_001258214.1/0;CC=c.714T>C;ProtCh=p.S238=;VC=Silent;Gene=IL12RB2/NM_001258215.1/0;CC=c.714T>C;ProtCh=p.S238=;VC=Silent;Gene=IL12RB2/NM_001258216.1/0;CC=c.714T>C;ProtCh=p.S238=;VC=Silent;Gene=IL12RB2/NM_001559.2/1;CC=c.714T>C;ProtCh=p.S238=;VC=Silent;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:25:0:0:42:1310:150.98:78.21:72.77:1.00:1.00:1.00:60:43.7:0:0:59:90:28:NM_001559.2(IL12RB2) c.714T>C (p.(=)),NM_001559.2(IL12RB2) c.714T>C (p.(=)):0.86,0.86:0.910349,0.910349 1 67795413 . G . . NT END=67796342;NT GT ./. 1 67796258 rs397833074 G GT 14 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4603,GT/0.4866,GTT/0.04912;DB;DBA=NA;PAF=G/0.4603,GG/.,GGT/0.001797,GT/0.4866,GTT/0.04912;DB;DBA=NA;PAF=G/0.4603,GT/0.4866;DB;DBA=NA;PAF=NA;NP=2;NP=719;Gene=IL12RB2/NM_001258214.1/0;CC=c.808-73dupT;VC=Intron;Gene=IL12RB2/NM_001258215.1/0;CC=c.808-73dupT;VC=Intron;Gene=IL12RB2/NM_001258216.1/0;CC=c.808-73dupT;VC=Intron;Gene=IL12RB2/NM_001559.2/1;CC=c.808-73dupT;VC=Intron;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GT:5:6:5:0:1,4:34,163:0.00,13.83:0.00,12.03:0.00,1.80:0.00,0.93:0.00,0.93:0.00,0.78:60,60:0.0,13.8:0,1:0,0:101,59:50,92:0,48:-,NM_001559.2(IL12RB2) c.808-85_808-84insT:-,NOT_FOUND:-,NOT_FOUND 1 67796494 . G . . NT END=67804306;NT GT ./. 1 67800306 rs67915009 CA C 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CA/0.5843,C/0.4157;NP=454;PC=0.246;Gene=IL12RB2/NM_001258214.1/0;CC=c.958+3814delA;VC=Intron;Gene=IL12RB2/NM_001258215.1/0;CC=c.958+3814delA;VC=Intron;Gene=IL12RB2/NM_001258216.1/0;CC=c.958+3814delA;VC=Intron;Gene=IL12RB2/NM_001559.2/1;CC=c.958+3814delA;VC=Intron;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:CA,C:4:3:0:2:2,2:71,66:0.00,6.35:0.00,2.87:0.00,3.48:0.00,0.51:0.00,0.89:0.00,0.67:60,40:102.0,0.0:1,0:0,0:35,84:114,67:5,18:-,NM_001559.2(IL12RB2) c.958+3814delA:-,NOT_FOUND:-,NOT_FOUND 1 67804387 . G . . NT END=67816552;NT GT ./. 1 67816773 . G . . NT END=67833507;NT GT ./. 1 67833709 . G . . NT END=67838118;NT GT ./. 1 67838218 . G . . NT END=67838307;NT GT ./. 1 67838467 . G . . NT END=67845668;NT GT ./. 1 67845648 rs17129920 CTTCCT C 42 nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=CTTCCT/0.9549,C/0.04513;DB;DBA=NA;PAF=CTTCCT/0.9549,C/0.04513;NP=378;PC=0.105;Gene=IL12RB2/NM_001258214.1/0;CC=c.1718-18_1718-14delCCTTT;VC=Intron;Gene=IL12RB2/NM_001258215.1/0;CC=c.1460-18_1460-14delCCTTT;VC=Intron;Gene=IL12RB2/NM_001258216.1/0;CC=c.1718-18_1718-14delCCTTT;VC=Intron;Gene=IL12RB2/NM_001559.2/1;CC=c.1718-18_1718-14delCCTTT;VC=Intron;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTCCT,C:33:30:0:14:19,14:602,449:0.00,41.82:0.00,31.04:0.00,10.79:0.00,1.00:0.00,1.00:0.00,0.98:60,60:4.1,5.2:0,0:0,0:42,46:98,92:32,20:-,NM_001559.2(IL12RB2) c.1718-20_1718-16delTTCCT:-,0.03:-,0.042093 1 67845807 . G . . NT END=67852261;NT GT ./. 1 67852141 rs12138812 A G 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.367,G/0.633;Gene=IL12RB2/NM_001258214.1/0;CC=c.1856-121A>G;VC=Intron;Gene=IL12RB2/NM_001258215.1/0;CC=c.1598-121A>G;VC=Intron;Gene=IL12RB2/NM_001258216.1/0;CC=c.1855+6335A>G;VC=Intron;Gene=IL12RB2/NM_001559.2/1;CC=c.1856-121A>G;VC=Intron;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:354:40.17:40.17:0.00:1.00:1.00:0.00:60:44.5:0:0:45:105:16:NM_001559.2(IL12RB2) c.1856-121A>G,NM_001559.2(IL12RB2) c.1856-121A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 67852335 rs2228420 G A 39 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.5865,A/0.4135,T/.;Gene=IL12RB2/NM_001258214.1/0;CC=c.1929G>A;ProtCh=p.T643=;VC=Silent;Gene=IL12RB2/NM_001258215.1/0;CC=c.1671G>A;ProtCh=p.T557=;VC=Silent;Gene=IL12RB2/NM_001258216.1/0;CC=c.1855+6529G>A;VC=Intron;Gene=IL12RB2/NM_001559.2/1;CC=c.1929G>A;ProtCh=p.T643=;VC=Silent;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:20:0:0:13,19:417,621:38.52,0.00:14.68,0.00:23.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.2,4.8:0,0:0,0:90,92:30,50:33,34:NM_001559.2(IL12RB2) c.1929G>A (p.(=)),-:0.43,-:0.45602,- 1 67852353 . G . . NT END=67855711;NT GT ./. 1 67855812 . G . . NT END=67861229;NT GT ./. 1 67856021 rs2270614 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5859,G/0.4141;Gene=IL12RB2/NM_001258214.1/0;CC=c.1946+3669A>G;VC=Intron;Gene=IL12RB2/NM_001258215.1/0;CC=c.1788+210A>G;VC=Intron;Gene=IL12RB2/NM_001258216.1/0;CC=c.1856-5209A>G;VC=Intron;Gene=IL12RB2/NM_001559.2/1;CC=c.2046+210A>G;VC=Intron;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G:8:0:0:0:3,5:75,149:0.00,14.99:0.00,0.00:0.00,14.99:0.00,0.97:0.00,0.00:0.00,0.97:60,60:64.3,32.4:0,0:0,0:97,86:53,65:29,27:-,NM_001559.2(IL12RB2) c.2046+210A>G:-,0.43:-,NOT_FOUND 1 67861520 rs2229546 C A 266 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.4449,A/0.5551,G/.,T/.;Gene=IL12RB2/NM_001258214.1/0;CC=c.*257C>A;VC=3UTR;Gene=IL12RB2/NM_001258215.1/0;CC=c.2079C>A;ProtCh=p.P693=;VC=Silent;Gene=IL12RB2/NM_001258216.1/0;CC=c.*238C>A;VC=3UTR;Gene=IL12RB2/NM_001559.2/1;CC=c.2337C>A;ProtCh=p.P779=;VC=Silent;Gene=IL12RB2/NR_047583.1/0;VC=NonCoding;Gene=IL12RB2/NR_047584.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:68:46:0:0:68:2338:266.22:129.54:136.68:1.00:1.00:1.00:60:39.6:0:0:80:62:31:NM_001559.2(IL12RB2) c.2337C>A (p.(=)),NM_001559.2(IL12RB2) c.2337C>A (p.(=)):0.55,0.55:0.612948,0.612948 1 67861773 . G . . NT END=67878889;NT GT ./. 1 67868234 . TCTCACA T 10 nt VT=DEL;SST=Single;DP=6;NP=14;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:TCTCACA,I,T:6:6:1:3:2,1,3:70,34,101:0.00,2.94,10.03:0.00,2.98,4.86:0.00,-0.04,5.16:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.51:60,60,60:91.0,69.0,0.0:0,0,0:0,0,0:46,24,47:99,127,89:32,0,6:-,chr1 g.67868235_67868240delCTCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 67875069 . G GACACACACAC 10 idl,nt VT=INS;SST=Single;DP=10;PC=0.001;Gene=SERBP1/NM_001018067.1/0;CC=c.*3820_*3821insGTGTGTGTGT;VC=3UTR;Gene=SERBP1/NM_001018068.1/0;CC=c.*3820_*3821insGTGTGTGTGT;VC=3UTR;Gene=SERBP1/NM_001018069.1/0;CC=c.*3820_*3821insGTGTGTGTGT;VC=3UTR;Gene=SERBP1/NM_015640.3/1;CC=c.*3820_*3821insGTGTGTGTGT;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G,GACACACACAC:6:8:7:0:1,2,3:29,56,229:2.29,0.00,9.75:-0.07,0.00,8.15:2.36,0.00,1.60:0.00,0.00,0.62:0.00,0.00,0.92:0.00,0.00,0.86:40,60,60:151.0,36.0,49.7:0,0,4:0,0,0:98,110,65:25,35,77:0,13,18:-,NM_001018067.1(SERBP1) c.*3787GT[22]:-,NOT_FOUND:-,NOT_FOUND 1 67875104 rs35746287 C A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1855,A/0.8145;NP=3;PC=0.003;Gene=SERBP1/NM_001018067.1/0;CC=c.*3786G>T;VC=3UTR;Gene=SERBP1/NM_001018068.1/0;CC=c.*3786G>T;VC=3UTR;Gene=SERBP1/NM_001018069.1/0;CC=c.*3786G>T;VC=3UTR;Gene=SERBP1/NM_015640.3/1;CC=c.*3786G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,C:10:6:0:2:3,7:96,226:8.38,0.00:-0.62,0.00:9.00,0.00:0.62,0.00:0.86,0.00:0.92,0.00:60,60:98.3,17.4:0,0:0,0:58,115:93,24:26,9:NM_001018067.1(SERBP1) c.*3786G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 67878789 . C CT 7 rn VT=INS;SST=Single;DP=35;PC=1.000;Gene=SERBP1/NM_001018067.1/0;CC=c.*100dupA;VC=3UTR;Gene=SERBP1/NM_001018068.1/0;CC=c.*100dupA;VC=3UTR;Gene=SERBP1/NM_001018069.1/0;CC=c.*100dupA;VC=3UTR;Gene=SERBP1/NM_015640.3/1;CC=c.*100dupA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,G,CT,D:35:29:3:3:28,1,3,3:901,10,101,88:0.00,-0.11,7.24,5.95:0.00,-0.05,4.73,3.63:0.00,-0.06,2.52,2.32:0.00,0.00,0.40,0.00:0.00,0.00,0.83,0.00:0.00,0.00,0.47,0.00:60,60,60,60:23.0,36.0,7.3,50.0:0,0,0,0:0,0,0,0:62,29,82,10:88,122,68,139:40,0,12,0:-,NM_001018067.1(SERBP1) c.*100dupA:-,NOT_FOUND:-,NOT_FOUND 1 67878947 . C . . NT END=67880848;NT GT ./. 1 67881023 . C . . NT END=67885691;NT GT ./. 1 67885870 . C . . NT END=67889882;NT GT ./. 1 67889571 rs12566098 C G 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4928,G/0.5072;Gene=SERBP1/NM_001018067.1/0;CC=c.818+312G>C;VC=Intron;Gene=SERBP1/NM_001018068.1/0;CC=c.800+312G>C;VC=Intron;Gene=SERBP1/NM_001018069.1/0;CC=c.773+312G>C;VC=Intron;Gene=SERBP1/NM_015640.3/1;CC=c.755+312G>C;VC=Intron;DM=SERBP1/HABP4_PAI-RBP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:157:18.08:18.08:0.00:1.00:1.00:0.00:60:33.8:0:0:12:138:4:NM_001018067.1(SERBP1) c.818+312G>C,NM_001018067.1(SERBP1) c.818+312G>C:0.51,0.51:NOT_FOUND,NOT_FOUND 1 67890006 . C . . NT END=67890570;NT GT ./. 1 67890361 rs397861382 GA G 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GA/0.619,G/0.381;DB;DBA=NA;PAF=GA/0.619,G/0.381;NP=218;Gene=SERBP1/NM_001018067.1/0;CC=c.695+209delT;VC=Intron;Gene=SERBP1/NM_001018068.1/0;CC=c.677+209delT;VC=Intron;Gene=SERBP1/NM_001018069.1/0;CC=c.695+209delT;VC=Intron;Gene=SERBP1/NM_015640.3/1;CC=c.677+209delT;VC=Intron;DM=SERBP1/HABP4_PAI-RBP1;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:GA,G:7:6:0:3:4,3:122,94:0.00,8.76:0.00,9.00:0.00,-0.24:0.00,0.69:0.00,0.95:0.00,0.62:60,60:26.0,3.3:0,0:0,0:67,55:83,95:16,19:-,NM_001018067.1(SERBP1) c.695+209delT:-,0.4:-,NOT_FOUND 1 67890526 rs6702742 A G 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.5917,G/0.4083;Gene=SERBP1/NM_001018067.1/0;CC=c.695+45T>C;VC=Intron;Gene=SERBP1/NM_001018068.1/0;CC=c.677+45T>C;VC=Intron;Gene=SERBP1/NM_001018069.1/0;CC=c.695+45T>C;VC=Intron;Gene=SERBP1/NM_015640.3/1;CC=c.677+45T>C;VC=Intron;DM=SERBP1/HABP4_PAI-RBP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:32:0:0:22,10:704,294:0.00,25.54:0.00,22.42:0.00,3.12:0.00,1.00:0.00,1.00:0.00,0.78:60,60:2.2,40.5:0,0:0,0:50,103:100,47:29,27:-,NM_001018067.1(SERBP1) c.695+45T>C:-,0.43:-,0.454091 1 67890661 . C . . NT END=67890765;NT GT ./. 1 67890907 . C . . NT END=67891817;NT GT ./. 1 67891029 rs57690154 A C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.9105,C/0.08946;Gene=SERBP1/NM_001018067.1/0;CC=c.465-123T>G;VC=Intron;Gene=SERBP1/NM_001018068.1/0;CC=c.465-123T>G;VC=Intron;Gene=SERBP1/NM_001018069.1/0;CC=c.465-123T>G;VC=Intron;Gene=SERBP1/NM_015640.3/1;CC=c.465-123T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:38:1:0:0:19,19:550,527:0.00,50.27:0.00,-0.15:0.00,50.42:0.00,1.00:0.00,0.67:0.00,1.00:60,60:19.8,39.8:0,0:0,0:113,68:30,83:36,36:-,NM_001018067.1(SERBP1) c.465-123T>G:-,0.08:-,NOT_FOUND 1 67891969 . C . . NT END=67895670;NT GT ./. 1 67892211 rs10889686 A G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.03255,G/0.9675;Gene=SERBP1/NM_001018067.1/0;CC=c.314-243T>C;VC=Intron;Gene=SERBP1/NM_001018068.1/0;CC=c.314-243T>C;VC=Intron;Gene=SERBP1/NM_001018069.1/0;CC=c.314-243T>C;VC=Intron;Gene=SERBP1/NM_015640.3/1;CC=c.314-243T>C;VC=Intron;DM=SERBP1/IHABP4_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:224:25.74:0.00:25.74:1.00:0.00:1.00:60:40.3:0:0:125:26:25:NM_001018067.1(SERBP1) c.314-243T>C,NM_001018067.1(SERBP1) c.314-243T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 67895984 . G . . NT END=68151177;NT GT ./. 1 67986020 rs34184437 G GGT 9 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=16;NP=2;PC=0.015;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,GGT,D:11:11:3:3:5,3,3:128,96,90:0.00,8.65,8.05:0.00,7.26,5.16:0.00,1.39,2.89:0.00,0.60,0.00:0.00,0.60,0.00:0.00,0.72,0.00:60,60,60:67.0,22.3,15.3:0,0,0:0,0,0:61,56,36:73,95,108:27,24,7:-,chr1 g.67986020_67986021insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 67986079 rs534502996 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,T:10:7:0:0:5,5:145,105:0.00,9.82:0.00,5.31:0.00,4.51:0.00,0.95:0.00,0.99:0.00,0.73:60,60:11.2,39.4:0,0:0,0:79,118:55,29:12,4:-,chr1 g.67986078C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 68151222 . G . . NT END=68151707;NT GT ./. 1 68151810 . G . . NT END=68152032;NT GT ./. 1 68151980 rs2759219 T G 282 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.252,G/0.748;Gene=GADD45A/NM_001199741.1/0;CC=c.45-53T>G;VC=Intron;Gene=GADD45A/NM_001199742.1/0;CC=c.146+171T>G;VC=Intron;Gene=GADD45A/NM_001924.3/1;CC=c.147-53T>G;VC=Intron;DM=GADD45A/Ribosomal_L7Ae GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:80:59:0:0:1,79:11,2448:0.15,281.91:0.15,177.10:0.00,104.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:111.0,38.5:0,0:0,0:114,57:37,94:0,37:NM_001924.3(GADD45A) c.147-53T>G,NM_001924.3(GADD45A) c.147-53T>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 68152271 . G . . NT END=68153343;NT GT ./. 1 68152363 rs3783468 G A 128 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5797,A/0.4203;PC=0.001;Gene=GADD45A/NM_001199741.1/0;CC=c.282+93G>A;VC=Intron;Gene=GADD45A/NM_001199742.1/0;CC=c.146+554G>A;VC=Intron;Gene=GADD45A/NM_001924.3/1;CC=c.384+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:0:0:0:34:1117:127.89:0.00:127.89:1.00:0.00:1.00:60:68.8:0:0:86:62:41:NM_001924.3(GADD45A) c.384+93G>A,NM_001924.3(GADD45A) c.384+93G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 68152388 rs681673 T C 89 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4125,C/0.5875;Gene=GADD45A/NM_001199741.1/0;CC=c.282+118T>C;VC=Intron;Gene=GADD45A/NM_001199742.1/0;CC=c.146+579T>C;VC=Intron;Gene=GADD45A/NM_001924.3/1;CC=c.384+118T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:0:0:0:26:763:88.62:0.00:88.62:1.00:0.00:1.00:60:82.5:0:0:94:57:24:NM_001924.3(GADD45A) c.384+118T>C,NM_001924.3(GADD45A) c.384+118T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 68152438 rs532446 C T 57 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4125,T/0.5875;PC=0.001;Gene=GADD45A/NM_001199741.1/0;CC=c.282+168C>T;VC=Intron;Gene=GADD45A/NM_001199742.1/0;CC=c.146+629C>T;VC=Intron;Gene=GADD45A/NM_001924.3/1;CC=c.384+168C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:0:0:0:16:494:57.01:0.00:57.01:1.00:0.00:1.00:60:96.2:0:0:113:37:17:NM_001924.3(GADD45A) c.384+168C>T,NM_001924.3(GADD45A) c.384+168C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 68153458 . T . . NT END=68173276;NT GT ./. 1 68160741 rs7414246 C G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4651,G/0.5349 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:114:13.29:9.44:3.85:1.00:1.00:1.00:60:68.2:0:0:36:114:22:chr1 g.68160740C>G (intergenic),chr1 g.68160740C>G (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 1 68173264 rs2295942 C T 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.5863,T/0.4137;Gene=GNG12/NM_018841.5/1;CC=c.93+13G>A;VC=Intron;DM=GNG12/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:32:0:0:22,12:689,401:0.00,36.25:0.00,26.59:0.00,9.66:0.00,1.00:0.00,1.00:0.00,0.98:60,60:7.5,35.9:0,0:0,0:62,38:88,104:22,20:-,NM_018841.5(GNG12) c.93+13G>A:-,0.41:-,0.435645 1 68173396 . C . . NT END=68243136;NT GT ./. 1 68243191 . C . . NT END=68299026;NT GT ./. 1 68243397 rs1949133 T C 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2554,C/0.7446;PC=0.026;Gene=GNG12/NM_018841.5/1;CC=c.-76-207A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:93:11.04:0.00:11.04:1.00:0.00:1.00:60:51.5:0:0:74:76:36:NM_018841.5(GNG12) c.-76-207A>G,NM_018841.5(GNG12) c.-76-207A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 68252557 rs12038388 T C 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7975,C/0.2025;PC=0.015;Gene=GNG12/NM_018841.5/1;CC=c.-76-9367A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:5:5:0:0:3,2:80,63:7.94,0.00:7.94,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:63.0,32.0:0,0:0,0:92,49:59,95:19,24:NM_018841.5(GNG12) c.-76-9367A>G,-:0.23,-:NOT_FOUND,- 1 68252620 rs3962341 G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=96;PC=0.001;Gene=GNG12/NM_018841.5/1;CC=c.-76-9430C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:6:6:0:3:4,2:127,66:12.95,0.00:13.19,0.00:-0.24,0.00:0.93,0.00:0.93,0.00:0.78,0.00:60,60:58.5,60.5:0,0:0,0:112,7:32,135:24,4:NM_018841.5(GNG12) c.-76-9430C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 68252634 rs377467080 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=GNG12/NM_018841.5/1;CC=c.-76-9444C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:10:9:0:0:3,7:100,237:8.78,0.00:7.33,0.00:1.44,0.00:0.62,0.00:0.94,0.00:0.69,0.00:60,60:0.0,50.7:3,0:0,0:42,23:90,120:14,9:NM_018841.5(GNG12) c.-76-9444C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 68252719 rs397828874 A T,CGTGT 12 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7384,AGT/.,AGTGT/0.2616;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=18;NP=32;NP=37;NP=5;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:66:A,T,CGTGT:11:7:4:0:2,5,4:56,116,116:0.00,11.70,11.36:0.00,6.51,6.38:0.00,5.19,4.98:0.00,0.93,0.00:0.00,0.98,0.00:0.00,0.95,0.00:60,60,70:0.0,73.2,24.0:0,1,0:0,0,0:127,99,33:11,38,117:19,6,8:NM_018841.5(GNG12) c.-76-9529T>A,NM_018841.5(GNG12) c.-76-9529delTinsACACG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 68299291 rs11209163 T G 161 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=T/0.4091,G/0.5909;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:136:80:0:0:56,80:1738,2500:160.50,0.00:64.34,0.00:96.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,12.9:0,0:0,0:90,93:57,52:27,33:NR_040077.1(GNG12-AS1) n.149+1172T>G,-:0.6,-:NOT_FOUND,- 1 68299348 . G . . NT END=68512290;NT GT ./. 1 68299552 rs7540541 G T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.344,T/0.656;PC=0.225;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:G,T:11:0:0:0:5,6:167,204:0.00,19.97:0.00,0.00:0.00,19.97:0.00,0.98:0.00,0.00:0.00,0.98:60,60:8.4,34.0:0,0:0,0:91,56:59,94:12,29:-,NR_040077.1(GNG12-AS1) n.149+1433G>T:-,0.66:-,NOT_FOUND 1 68425041 rs56373207 A AGT 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6268,AGT/0.3732,AGTGTGT/.,AGTGTGTGT/.;DB;DBA=NA;PAF=NA;NP=12;NP=2;NP=25;NP=97;PC=0.008;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:AGT:2:3:4:0:2:135:7.15:1.74:5.41:0.51:0.89:0.51:60:0.0:2:0:24:127:4:NR_040077.1(GNG12-AS1) n.150-75289_150-75288insGT,NR_040077.1(GNG12-AS1) n.150-75289_150-75288insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 68512981 . C . . NT END=68591040;NT GT ./. 1 68590734 rs12092498 T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4024,C/0.5976;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1510+12729A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:77,33:8.11,0.00:8.11,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:94.3,0.0:0,0:0,0:32,18:114,133:10,0:NM_001002292.3(WLS) c.1510+12729A>G,-:0.62,-:NOT_FOUND,- 1 68590852 rs2820478 A G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.385,G/0.615;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1510+12611T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:12:12:0:0:6,6:193,197:0.00,18.95:0.00,18.95:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:17.8,46.3:0,0:0,0:39,60:111,90:31,7:-,NM_001002292.3(WLS) c.1510+12611T>C:-,0.63:-,NOT_FOUND 1 68591104 rs1046852 A G 111 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.3866,G/0.6134;PC=0.995;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1510+12359T>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.*805T>C;VC=3UTR;Gene=WLS/NM_024911.6/0;CC=c.*805T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:93:72:0:0:53,3,37:1741,38,1196:0.00,0.59,110.72:0.00,-0.46,84.61:0.00,1.05,26.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.2,108.3,53.7:0,0,0:0,0,0:69,112,79:69,39,72:42,14,41:-,NM_001002292.3(WLS) c.1510+12359T>C:-,0.63:-,NOT_FOUND 1 68591173 rs1046835 A G 160 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.3864,G/0.6136;PC=0.995;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1510+12290T>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.*736T>C;VC=3UTR;Gene=WLS/NM_024911.6/0;CC=c.*736T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:106:65:0:0:54,52:1772,1673:0.00,160.17:0.00,100.87:0.00,59.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,67.3:0,0:0,0:66,66:82,83:37,27:-,NM_001002292.3(WLS) c.1510+12290T>C:-,0.63:-,NOT_FOUND 1 68591253 rs7062 C T 172 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.62,T/0.38;PC=0.997;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1510+12210G>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.*656G>A;VC=3UTR;Gene=WLS/NM_024911.6/0;CC=c.*656G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:65:0:0:56,54:1794,1793:0.00,171.97:0.00,76.71:0.00,95.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,50.0:0,0:0,0:78,77:72,73:37,35:-,NM_001002292.3(WLS) c.1510+12210G>A:-,0.38:-,NOT_FOUND 1 68591405 rs269350 G A 174 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.4423,A/0.5577;PC=0.002;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1510+12058C>T;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.*504C>T;VC=3UTR;Gene=WLS/NM_024911.6/0;CC=c.*504C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:110:63:0:0:56,54:1802,1631:173.83,0.00:91.44,0.00:82.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,7.2:0,0:0,0:67,70:83,78:43,36:NM_001002292.3(WLS) c.1510+12058C>T,-:0.57,-:NOT_FOUND,- 1 68591600 . A C 15 sb VT=SNV;PN=C;NN=C;SST=Single;DP=90;PC=0.041;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1510+11863T>G;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.*309T>G;VC=3UTR;Gene=WLS/NM_024911.6/0;CC=c.*309T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,C:90:54:0:0:72,18:1740,261:0.00,15.35:0.00,17.47:0.00,-2.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.8,98.9:0,0:0,0:70,70:76,64:37,20:-,NM_001002292.3(WLS) c.1510+11863T>G:-,NOT_FOUND:-,NOT_FOUND 1 68592019 . C . . NT END=68603462;NT GT ./. 1 68603617 . C . . NT END=68610251;NT GT ./. 1 68603731 rs1831297 A G 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.4097,G/0.5903;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1357-115T>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.1090-115T>C;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.1363-115T>C;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:3:0:0:16,19:513,639:0.00,62.51:0.00,3.49:0.00,59.02:0.00,1.00:0.00,0.91:0.00,1.00:60,60:16.4,41.8:0,0:0,0:114,102:37,49:16,31:-,NM_001002292.3(WLS) c.1357-115T>C:-,0.6:-,NOT_FOUND 1 68610336 . C . . NT END=68611551;NT GT ./. 1 68611240 rs2772312 A C 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.03514,C/0.9649;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1272+312T>G;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.1005+312T>G;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.1278+312T>G;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:253:29.10:29.10:0.00:1.00:1.00:0.00:60:57.9:0:0:29:121:19:NM_001002292.3(WLS) c.1272+312T>G,NM_001002292.3(WLS) c.1272+312T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 68611317 rs2772313 T C 72 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.004593,C/0.9954;NP=871;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1272+235A>G;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.1005+235A>G;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.1278+235A>G;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:631:72.16:72.16:0.00:1.00:1.00:0.00:60:57.2:0:0:44:102:33:NM_001002292.3(WLS) c.1272+235A>G,NM_001002292.3(WLS) c.1272+235A>G:1,1:NOT_FOUND,NOT_FOUND 1 68611696 . C . . NT END=68613818;NT GT ./. 1 68613883 . C . . NT END=68614245;NT GT ./. 1 68613933 rs2303949 C T 95 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.7762,T/0.2238;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1065-51G>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.798-51G>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.1071-51G>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:20:0:0:14,29:401,927:0.00,94.85:0.00,26.16:0.00,68.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,51.8:0,0:0,0:114,100:31,51:29,16:-,NM_001002292.3(WLS) c.1065-51G>A:-,0.2:-,0.155851 1 68614013 rs2566789 A G 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.03474,G/0.9653;PC=0.001;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.1065-131T>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.798-131T>C;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.1071-131T>C;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:5:0:0:19:592:68.23:19.28:48.94:1.00:1.00:1.00:60:57.7:0:0:116:35:22:NM_001002292.3(WLS) c.1065-131T>C,NM_001002292.3(WLS) c.1065-131T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 68614344 . C . . NT END=68615870;NT GT ./. 1 68616040 . C . . NT END=68619199;NT GT ./. 1 68616275 rs1430755 C G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7157,G/0.2843;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.798-236G>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.531-236G>C;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.804-236G>C;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,G:7:0:0:0:1,6:30,208:0.00,22.42:0.00,0.00:0.00,22.42:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,40.5:0,0:0,0:133,110:17,41:0,12:-,NM_001002292.3(WLS) c.798-236G>C:-,0.25:-,NOT_FOUND 1 68619012 rs6687951 C T 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7702,T/0.2298;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.797+188G>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.530+188G>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.803+188G>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:14:14:0:0:6,8:171,231:0.00,22.75:0.00,22.75:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.5,41.2:0,0:0,0:65,44:85,106:23,28:-,NM_001002292.3(WLS) c.797+188G>A:-,0.21:-,NOT_FOUND 1 68619337 . C . . NT END=68620781;NT GT ./. 1 68619511 rs1430759 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6629,A/0.3371;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.661-175C>T;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.394-175C>T;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.667-175C>T;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,G:11:0:0:0:5,6:160,194:15.09,0.00:0.00,0.00:15.09,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:44.8,39.7:0,0:0,0:105,64:44,86:14,41:NM_001002292.3(WLS) c.661-175C>T,-:0.36,-:NOT_FOUND,- 1 68619562 rs2255911 A T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.728,T/0.272;PC=0.002;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.661-226T>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.394-226T>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.667-226T>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,T:8:0:0:0:3,5:77,143:0.00,14.35:0.00,0.00:0.00,14.35:0.00,0.97:0.00,0.00:0.00,0.97:60,60:37.7,45.2:0,0:0,0:110,86:41,65:32,31:-,NM_001002292.3(WLS) c.661-226T>A:-,0.24:-,NOT_FOUND 1 68620944 . C . . NT END=68624805;NT GT ./. 1 68620998 rs2820488 C G 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.6945,G/0.3055;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.499-55G>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.232-55G>C;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.505-55G>C;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:58:19:0:0:37,21:1216,721:0.00,65.63:0.00,12.59:0.00,53.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,38.2:0,0:0,0:97,121:52,23:30,17:-,NM_001002292.3(WLS) c.499-55G>C:-,0.27:-,NOT_FOUND 1 68624878 rs3748705 C T 97 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.6504,T/0.3496;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.426G>A;ProtCh=p.A142=;VC=Silent;Gene=WLS/NM_001193334.1/0;CC=c.159G>A;ProtCh=p.A53=;VC=Silent;Gene=WLS/NM_024911.6/0;CC=c.432G>A;ProtCh=p.A144=;VC=Silent;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:46:0:0:39,32:1197,1028:0.00,96.94:0.00,45.51:0.00,51.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,36.3:0,0:0,0:74,77:76,74:32,24:-,NM_001002292.3(WLS) c.426G>A (p.(=)):-,0.37:-,0.313317 1 68624931 . C . . NT END=68659637;NT GT ./. 1 68627568 rs74081400 C A 142 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.6506,A/0.3494,T/.;PC=0.747;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-2638G>T;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-2638G>T;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-2638G>T;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:78:51:0:0:43,34,1:1449,1103,11:142.46,0.00,-0.04:68.49,0.00,0.06:73.96,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,58:47.1,2.8,117.0:0,1,0:0,0,0:67,71,36:73,76,114:34,46,0:NM_001002292.3(WLS) c.374-2638G>T,-:0.37,-:NOT_FOUND,- 1 68627692 rs12029634 G T 155 nt VT=SNV;PN=A;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=1.000;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-2762C>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-2762C>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-2762C>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:91:64:0:0:42,49:1430,1592:0.00,155.30:0.00,70.90:0.00,84.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,43.2:0,0:0,0:79,72:69,75:26,33:-,NM_001002292.3(WLS) c.374-2762C>A:-,0.6:-,NOT_FOUND 1 68627960 rs1808597 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7374,T/0.2626;PC=0.913;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3030G>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3030G>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3030G>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:24:0:0:29,12:868,363:0.00,31.30:0.00,19.25:0.00,12.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,48.9:0,0:0,0:52,61:97,89:27,25:-,NM_001002292.3(WLS) c.374-3030G>A:-,0.23:-,NOT_FOUND 1 68628198 rs1808598 A G 90 nt VT=SNV;PN=T;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.7284,G/0.2716;PC=1.000;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3268T>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3268T>C;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3268T>C;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:40:0:0:36,30:1061,950:0.00,89.54:0.00,42.89:0.00,46.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.9,50.4:0,0:0,0:96,77:44,69:28,31:-,NM_001002292.3(WLS) c.374-3268T>C:-,0.24:-,NOT_FOUND 1 68628201 rs1808599 C T 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.3854,T/0.6146;PC=0.906;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3271G>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3271G>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3271G>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:65:40:0:0:1,29,35:19,895,1144:0.46,0.00,111.96:-0.09,0.00,44.00:0.55,0.00,67.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:162.0,46.5,40.4:0,0,0:0,0,0:49,77,98:98,74,44:0,28,26:-,NM_001002292.3(WLS) c.374-3271G>A:-,0.66:-,NOT_FOUND 1 68628372 rs11803411 G A 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.7658,A/0.2342;PC=0.998;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3442C>T;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3442C>T;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3442C>T;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:27:12:0:0:10,16,1:297,526,10:26.94,0.00,0.03:12.58,0.00,-0.09:14.36,0.00,0.12:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:35.1,2.8,142.0:0,0,0:0,0,0:57,86,44:93,64,87:30,40,0:NM_001002292.3(WLS) c.374-3442C>T,-:0.22,-:NOT_FOUND,- 1 68628521 rs76813845 A G 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.9736,G/0.02636;PC=1.000;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3591T>C;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3591T>C;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3591T>C;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:39:0:0:20,25:606,783:0.00,76.74:0.00,49.41:0.00,27.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,85.4:0,0:0,0:69,37:80,114:21,20:-,NM_001002292.3(WLS) c.374-3591T>C:-,0.03:-,NOT_FOUND 1 68628540 rs2820489 T C 99 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.739,C/0.261;PC=0.684;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3610A>G;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3610A>G;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3610A>G;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:45:0:0:30,23:1004,695:98.90,0.00:56.41,0.00:42.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.9,10.0:0,0:0,0:52,80:93,71:33,27:NM_001002292.3(WLS) c.374-3610A>G,-:0.23,-:NOT_FOUND,- 1 68628639 rs6679382 A T 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.7666,T/0.2334;PC=0.001;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3709T>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3709T>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3709T>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:71:45:0:0:38,1,32:1276,12,1077:0.00,-0.03,102.01:0.00,-0.13,41.43:0.00,0.10,60.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.1,154.0,65.6:0,0,0:0,0,0:65,36,101:83,115,45:29,0,29:-,NM_001002292.3(WLS) c.374-3709T>A:-,0.22:-,NOT_FOUND 1 68628907 rs2772309 C T 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.03195,T/0.9681;PC=0.204;Gene=GNG12-AS1/NR_040077.1/0;VC=NonCoding;Gene=WLS/NM_001002292.3/1;CC=c.374-3977G>A;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.107-3977G>A;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.380-3977G>A;VC=Intron;DM=WLS/MIG-14_Wnt-bd;DM=WLS/MIG-14_Wnt-bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:327:37.47:0.00:37.47:1.00:0.00:1.00:60:42.9:0:0:102:49:22:NM_001002292.3(WLS) c.374-3977G>A,NM_001002292.3(WLS) c.374-3977G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 68659911 . C . . NT END=68697876;NT GT ./. 1 68679865 rs71581159 A AACACACAC 11 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7911,AAC/0.2089,AACAC/.,AACACAC/.,AACACACAC/.;NP=1;NP=1;NP=63;Gene=WLS/NM_001002292.3/1;CC=c.106+18011_106+18012insGTGTGTGT;VC=Intron;Gene=WLS/NM_001193334.1/0;CC=c.106+18011_106+18012insGTGTGTGT;VC=Intron;Gene=WLS/NM_024911.6/0;CC=c.106+18011_106+18012insGTGTGTGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:AACACACAC:3:4:5:0:3:153:10.96:8.33:2.63:0.78:0.97:0.87:60:18.0:2:0:62:88:11:NM_001002292.3(WLS) c.106+18011_106+18012insGTGTGTGT,NM_001002292.3(WLS) c.106+18011_106+18012insGTGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 68698038 . T . . NT END=68895458;NT GT ./. 1 68741364 rs370903642 T TACACACAC 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8065,TACAC/.,TACACAC/0.06709,TACACACAC/0.1264;DB;DBA=NA;PAF=T/0.8065,TAC/.,TACACAC/0.06709,TACACACAC/0.1264;DB;DBA=NA;PAF=NA;NP=10;NP=13;NP=9;PC=0.001;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:T,TACACACAC:4:3:4:0:1,3:27,129:0.00,10.17:0.00,5.38:0.00,4.79:0.00,0.78:0.00,0.94:0.00,0.94:60,60:39.0,6.7:0,1:0,0:97,72:54,79:0,24:-,chr1 g.68741364_68741365insACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 68781758 . T TAC 7 rn VT=INS;SST=Single;DP=5;NP=1;PC=0.107;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:T,TAC,D:4:5:3:1:1,2,1:36,99,34:0.00,6.54,3.08:0.00,4.80,1.49:0.00,1.74,1.59:0.00,0.46,0.00:0.00,0.46,0.00:0.00,0.70,0.00:60,60,60:0.0,101.5,0.0:0,1,0:0,0,0:139,18,17:11,131,96:0,11,0:-,chr1 g.68781758_68781759insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 68792976 rs71068596 G GCACA 6 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=93;PC=0.001;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GCACA:2:2:4:0:2:118:6.45:1.69:4.76:0.51:0.79:0.89:60:32.0:2:0:59:89:21:chr1 g.68792976_68792977insCACA (intergenic),chr1 g.68792976_68792977insCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 68895611 . C . . NT END=68896747;NT GT ./. 1 68896644 rs932783 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4369,A/0.5631;PC=0.049;Gene=RPE65/NM_000329.2/1;CC=c.1450+104C>T;VC=Intron;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:A,G:16:16:0:0:6,10:183,244:16.60,0.00:16.60,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:34.5,28.4:0,0:0,0:88,92:62,55:18,18:NM_000329.2(RPE65) c.1450+104C>T,-:0.53,-:NOT_FOUND,- 1 68896860 . C . . NT END=68896964;NT GT ./. 1 68897060 . C . . NT END=68897153;NT GT ./. 1 68897269 . C . . NT END=68903869;NT GT ./. 1 68903942 rs12145904 C T 87 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=in-clinvar;PAF=C/0.7762,A/.,T/0.2238;PC=0.886;Gene=RPE65/NM_000329.2/1;CC=c.1056G>A;ProtCh=p.E352=;VC=Silent;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:47:0:0:33,28:1030,916:0.00,86.66:0.00,47.42:0.00,39.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,37.7:0,0:0,0:85,72:62,71:41,30:-,NM_000329.2(RPE65) c.1056G>A (p.(=)):-,0.22:-,0.156005 1 68904000 . C . . NT END=68904624;NT GT ./. 1 68904266 rs3125902 T C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3081,C/0.6919;Gene=RPE65/NM_000329.2/1;CC=c.999-267A>G;VC=Intron;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:6:1:0:0:3,3:85,78:8.14,0.00:-0.30,0.00:8.44,0.00:0.73,0.00:0.67,0.00:0.96,0.00:60,60:28.3,19.7:0,0:0,0:109,113:42,37:20,1:NM_000329.2(RPE65) c.999-267A>G,-:0.65,-:NOT_FOUND,- 1 68904355 rs3118420 G T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4347,T/0.5653;Gene=RPE65/NM_000329.2/1;CC=c.998+270C>A;VC=Intron;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:5:3:0:0:2,3:66,92:0.00,9.17:0.00,6.41:0.00,2.76:0.00,0.78:0.00,0.94:0.00,0.87:60,60:33.0,127.0:0,0:0,0:73,32:77,118:2,19:-,NM_000329.2(RPE65) c.998+270C>A:-,0.53:-,NOT_FOUND 1 68904418 rs3118421 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.01198,G/0.988;Gene=RPE65/NM_000329.2/1;CC=c.998+207T>C;VC=Intron;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A,G:9:6:0:0:1,8:11,198:0.00,22.29:0.00,15.06:0.00,7.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:202.0,71.4:0,0:0,0:26,85:123,64:0,50:NM_000329.2(RPE65) c.998+207T>C,NM_000329.2(RPE65) c.998+207T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 68904513 rs12138573 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.7764,G/0.2236;PC=0.001;Gene=RPE65/NM_000329.2/1;CC=c.998+112T>C;VC=Intron;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:22:0:0:12,11:377,328:0.00,31.14:0.00,28.13:0.00,3.02:0.00,1.00:0.00,1.00:0.00,0.77:60,60:9.7,49.5:0,0:0,0:34,32:115,119:11,13:-,NM_000329.2(RPE65) c.998+112T>C:-,0.22:-,NOT_FOUND 1 68904765 . C . . NT END=68904873;NT GT ./. 1 68905007 . C . . NT END=68905243;NT GT ./. 1 68905326 . C . . NT END=68906535;NT GT ./. 1 68905358 rs1925955 G C 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.3065,C/0.6935,T/.;Gene=RPE65/NM_000329.2/1;CC=c.644-33C>G;VC=Intron;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:19:0:0:15,17:437,543:41.22,0.00:11.39,0.00:29.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,5.1:0,0:0,0:101,105:48,43:22,13:NM_000329.2(RPE65) c.644-33C>G,-:0.66,-:0.518914,- 1 68906684 . C . . NT END=68910213;NT GT ./. 1 68910356 . C . . NT END=68910458;NT GT ./. 1 68910567 . C . . NT END=68912392;NT GT ./. 1 68912544 . C . . NT END=68914306;NT GT ./. 1 68912755 rs2012235 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.505,C/0.495;Gene=RPE65/NM_000329.2/1;CC=c.95-212A>G;VC=Intron;DM=RPE65/RPE65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:9,8:251,272:24.28,0.00:0.00,0.00:24.28,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.3,5.4:0,0:0,0:128,83:23,66:21,40:NM_000329.2(RPE65) c.95-212A>G,-:0.47,-:NOT_FOUND,- 1 68914390 . C . . NT END=68915577;NT GT ./. 1 68915589 . T . . NT END=68942614;NT GT ./. 1 68942753 . C . . NT END=68943469;NT GT ./. 1 68943436 rs1924542 G A 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6286,A/0.3714;Gene=DEPDC1/NM_001114120.2/1;CC=c.2298+34C>T;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.1446+34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:18:0:0:11,8:357,283:35.33,0.00:25.66,0.00:9.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.0,1.4:0,0:0,0:37,72:112,78:23,19:NM_001114120.1(DEPDC1) c.2298+34C>T,-:0.38,-:0.530022,- 1 68943442 rs3790476 A G 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.6424,C/.,G/0.3576;Gene=DEPDC1/NM_001114120.2/1;CC=c.2298+28T>C;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.1446+28T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:19:0:0:8,12:278,370:0.00,36.88:0.00,28.01:0.00,8.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,64.1:0,0:0,0:78,31:72,117:19,11:-,NM_001114120.1(DEPDC1) c.2298+28T>C:-,0.37:-,0.519861 1 68943656 . C . . NT END=68944826;NT GT ./. 1 68943665 rs12119046 T G 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7312,G/0.2688;PC=0.138;Gene=DEPDC1/NM_001114120.2/1;CC=c.2113-10A>C;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.1261-10A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:18:0:0:13,23:452,740:41.19,0.00:19.40,0.00:21.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,2.0:0,0:0,0:88,96:62,54:31,17:NM_001114120.1(DEPDC1) c.2113-10A>C,-:0.27,-:0.396676,- 1 68945004 . C . . NT END=68947122;NT GT ./. 1 68947296 . C . . NT END=68947728;NT GT ./. 1 68947318 rs74704835 C CA 65 nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.3784,CA/0.6216,CCA/.;DB;DBA=NA;PAF=C/0.3784,CA/0.6216;DB;DBA=NA;PAF=NA;NP=2039;Gene=DEPDC1/NM_001114120.2/1;CC=c.1763-24dupT;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.911-24dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:57:25:24:0:33,24:1061,702:0.00,64.80:0.00,13.68:0.00,51.13:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.3,17.9:0,0:0,0:88,82:56,68:15,24:-,NM_001114120.1(DEPDC1) c.1763-24_1763-23insT:-,0.63:-,0.803474 1 68948581 . C . . NT END=68949632;NT GT ./. 1 68949774 . C . . NT END=68952619;NT GT ./. 1 68952564 rs71071309 AAC A 82 idl,rn VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=357;PC=0.011;Gene=DEPDC1/NM_001114120.2/1;CC=c.769+54_769+55delGT;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.769+54_769+55delGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,A:54:54:0:35:26,28:796,1037:0.00,82.22:0.00,56.04:0.00,26.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,20.2:0,7:0,0:63,49:81,98:25,14:-,NM_001114120.1(DEPDC1) c.769+54_769+55delGT:-,NOT_FOUND:-,NOT_FOUND 1 68952668 . C . . NT END=68954056;NT GT ./. 1 68952914 rs4926325 C T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5409,T/0.4591;Gene=DEPDC1/NM_001114120.2/1;CC=c.722-247G>A;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.722-247G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:7:0:0:0:3,4:74,131:0.00,12.94:0.00,0.00:0.00,12.94:0.00,0.90:0.00,0.00:0.00,0.90:60,60:3.7,32.8:0,0:0,0:147,122:4,28:2,10:-,NM_001114120.1(DEPDC1) c.722-247G>A:-,0.47:-,NOT_FOUND 1 68954188 . C . . NT END=68954598;NT GT ./. 1 68954718 . C . . NT END=68955134;NT GT ./. 1 68954945 rs6669928 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7342,T/0.2658;Gene=DEPDC1/NM_001114120.2/1;CC=c.471+190G>A;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.471+190G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,T:4:2:0:0:1,3:14,99:0.00,10.37:0.00,7.30:0.00,3.07:0.00,0.85:0.00,0.95:0.00,0.95:60,60:8.0,33.7:0,0:0,0:147,128:3,22:0,1:-,NM_001114120.1(DEPDC1) c.471+190G>A:-,0.27:-,NOT_FOUND 1 68955292 . C . . NT END=68960112;NT GT ./. 1 68960379 . C . . NT END=68962634;NT GT ./. 1 68960476 rs4926345 T G 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.646,G/0.354;Gene=DEPDC1/NM_001114120.2/1;CC=c.49-98A>C;VC=Intron;Gene=DEPDC1/NM_017779.5/0;CC=c.49-98A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:7:0:0:10,15:329,469:30.37,0.00:5.08,0.00:25.29,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:42.8,22.0:0,0:0,0:104,98:46,53:24,25:NM_001114120.1(DEPDC1) c.49-98A>C,-:0.37,-:NOT_FOUND,- 1 68962683 . A . . NT END=70034322;NT GT ./. 1 69251401 rs5004360 T C 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2935,A/.,C/0.7065;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:66,68:6.35,0.00:3.17,0.00:3.17,0.00:0.51,0.00:0.51,0.00:0.51,0.00:60,60:43.0,15.0:0,0:0,0:127,110:13,27:11,11:chr1 g.69251400T>C (intergenic),-:0.72,-:NOT_FOUND,- 1 69820211 rs1947664 T A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2853,A/0.7147;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,T:8:5:0:0:5,3:126,91:12.65,0.00:9.88,0.00:2.77,0.00:0.97,0.00:0.99,0.00:0.98,0.00:60,60:60.6,6.3:0,0:0,0:18,51:99,71:14,25:chr1 g.69820210T>A (intergenic),-:0.69,-:NOT_FOUND,- 1 69820224 . TAC T,TACACAC 12 idl,nt VT=INS;SST=Single;DP=9;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:12:TAC,TACACAC,T:8:6:5:2:2,4,2:45,152,57:0.00,11.90,5.13:0.00,5.89,1.45:0.00,6.01,3.68:0.00,0.85,0.00:0.00,0.96,0.00:0.00,0.96,0.00:60,60,60:55.0,50.0,6.0:0,1,0:0,0,0:100,29,51:49,112,72:31,12,12:chr1 g.69820225_69820226delAC (intergenic),chr1 g.69820225AC[3] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 70034052 rs113503963 C T 10 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9213,T/0.07867 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T:5:5:0:0:2,3:41,97:0.00,9.71:0.00,9.71:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:36.0,101.0:0,0:0,0:118,7:25,144:10,1:-,chr1 g.70034051C>T (intergenic):-,0.08:-,NOT_FOUND 1 70034325 . G . . NT END=70144063;NT GT ./. 1 70034370 rs11280966 C CCAGCCGCGTG 172 idl,nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.1146,CCAGCCGCGTA/.,CCAGCCGCGTG/0.8854,CCAGCCGTGTG/.,CCAGCTGCGTG/.;NP=1;PC=0.003;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:C,CCAGCCGCGTG:51:41:58:0:1,50:29,1761:0.00,172.12:0.00,81.11:0.00,91.01:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,10.0:0,8:0,0:149,102:1,44:0,22:chr1 g.70034370_70034371insCAGCCGCGTG (intergenic),chr1 g.70034370_70034371insCAGCCGCGTG (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 1 70054798 rs55850319 GGTGTGT G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GGTGTGT/0.3307,G/0.6693;DB;DBA=NA;PAF=GGTGTGT/0.3307,G/0.6693;NP=97;PC=0.167;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GGTGTGT,G:4:2:0:4:1,3:33,98:0.00,10.25:0.00,5.58:0.00,4.68:0.00,0.85:0.00,0.95:0.00,0.99:27,60:0.0,0.0:0,0:0,0:110,89:33,62:0,9:-,chr1 g.70054799_70054804delGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 70144056 rs72938954 T C 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.9016,C/0.09844;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:24:0:0:14,11:462,364:45.43,0.00:33.79,0.00:11.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,4.2:0,0:0,0:32,36:105,108:21,23:chr1 g.70144055T>C (intergenic),-:0.11,-:0.10349,- 1 70144162 . G . . NT END=70225857;NT GT ./. 1 70225832 rs17397812 G A 119 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.8866,A/0.1134 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:55:0:0:37,29:1211,946:119.12,0.00:84.92,0.00:34.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,18.4:0,0:0,0:44,58:107,88:26,30:NM_020794.2(LRRC7) c.-30-u26G>A,-:0.14,-:NOT_FOUND,- 1 70225923 rs1340770 G A 149 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.9233,A/0.07668;PC=1.000;Gene=LRRC7/NM_020794.2/1;CC=c.36G>A;ProtCh=p.V12=;VC=Silent;DM=LRRC7/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:108:84:0:0:49,58,1:1574,1957,13:148.75,0.00,-0.05:93.91,0.00,-0.12:54.84,0.00,0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:32.9,12.6,13.0:0,0,0:0,0,0:64,75,2:80,68,149:41,25,0:NM_020794.2(LRRC7) c.36G>A (p.(=)),-:0.08,-:0.046301,- 1 70226077 . G . . NT END=70257725;NT GT ./. 1 70226125 rs12407496 T C 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.8267,C/0.1733;Gene=LRRC7/NM_020794.2/1;CC=c.189+49T>C;VC=Intron;DM=LRRC7/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:8:0:0:26,14:877,443:88.86,0.00:14.43,0.00:74.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,14.0:0,0:0,0:102,107:48,42:32,19:NM_020794.2(LRRC7) c.189+49T>C,-:0.16,-:0.159214,- 1 70226213 rs12411214 C A 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8552,A/0.1448;Gene=LRRC7/NM_020794.2/1;CC=c.189+137C>A;VC=Intron;DM=LRRC7/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:A,C:17:0:0:0:11,6:321,185:32.56,0.00:0.00,0.00:32.56,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.8,27.2:0,0:0,0:105,89:46,61:29,21:NM_020794.2(LRRC7) c.189+137C>A,-:0.14,-:NOT_FOUND,- 1 70257844 . G . . NT END=70291430;NT GT ./. 1 70291510 . G . . NT END=70300462;NT GT ./. 1 70300553 . G . . NT END=70303909;NT GT ./. 1 70303967 . G . . NT END=70397189;NT GT ./. 1 70397087 rs7530457 T C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4365,C/0.5635;Gene=LRRC7/NM_020794.2/1;CC=c.534-103T>C;VC=Intron;DM=LRRC7/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:17:0:0:7,11:213,323:19.40,0.00:17.89,0.00:1.51,0.00:0.98,0.00:1.00,0.00:0.79,0.00:60,60:51.4,7.9:0,0:0,0:56,35:95,115:25,8:NM_020794.2(LRRC7) c.534-103T>C,-:0.58,-:NOT_FOUND,- 1 70397254 . G . . NT END=70446061;NT GT ./. 1 70446137 . G . . NT END=70451924;NT GT ./. 1 70452070 . G . . NT END=70460243;NT GT ./. 1 70460317 . G . . NT END=70477479;NT GT ./. 1 70477610 . G . . NT END=70478656;NT GT ./. 1 70478773 . G . . NT END=70482147;NT GT ./. 1 70482218 . G . . NT END=70484401;NT GT ./. 1 70484502 . G . . NT END=70486687;NT GT ./. 1 70486813 . G . . NT END=70488808;NT GT ./. 1 70488646 rs559313805 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=LRRC7/NM_020794.2/1;CC=c.1432-163A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,G:13:13:0:0:5,8:135,267:0.00,26.78:0.00,26.78:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:19.8,50.2:0,0:0,0:109,30:42,121:39,17:-,NM_020794.2(LRRC7) c.1432-163A>G:-,NOT_FOUND:-,NOT_FOUND 1 70489058 . G . . NT END=70493853;NT GT ./. 1 70494055 . G . . NT END=70501803;NT GT ./. 1 70501916 . G . . NT END=70502126;NT GT ./. 1 70502308 . G . . NT END=70503795;NT GT ./. 1 70505477 . G . . NT END=70509636;NT GT ./. 1 70509778 . G . . NT END=70518708;NT GT ./. 1 70518829 . G . . NT END=70541759;NT GT ./. 1 70525157 rs551558017 AGTGT A 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=71;Gene=LRRC7/NM_020794.2/1;CC=c.4116+6369_4116+6372delTGTG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:AGTGT,A:8:6:0:3:5,3:166,99:0.00,9.03:0.00,2.69:0.00,6.34:0.00,0.67:0.00,0.93:0.00,0.93:60,60:47.2,4.0:0,0:0,0:44,87:104,63:29,5:-,NM_020794.2(LRRC7) c.4116+6330_4116+6333delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 70525234 rs687531 C T 22 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4595,T/0.5405;Gene=LRRC7/NM_020794.2/1;CC=c.4116+6406C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:1:0:0:6:188:21.66:1.84:19.82:1.00:1.00:1.00:60:36.5:0:0:90:52:24:NM_020794.2(LRRC7) c.4116+6406C>T,NM_020794.2(LRRC7) c.4116+6406C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 70541982 . G . . NT END=70555409;NT GT ./. 1 70544507 rs61784285 G A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.472,A/0.528;NP=2;NP=342;PC=0.003;Gene=LRRC7/NM_020794.2/1;CC=c.4338+2526G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:0:6:194:22.26:11.33:10.93:1.00:1.00:1.00:60:65.7:0:0:67:82:13:NM_020794.2(LRRC7) c.4338+2526G>A,NM_020794.2(LRRC7) c.4338+2526G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 70544511 rs61784286 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6278,G/0.3722;NP=1;NP=477;Gene=LRRC7/NM_020794.2/1;CC=c.4338+2530A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,G:5:3:0:1:1,4:9,124:0.00,13.29:0.00,8.00:0.00,5.30:0.00,0.96:0.00,0.99:0.00,0.99:60,60:37.0,74.0:0,0:0,0:83,66:68,84:0,26:-,NM_020794.2(LRRC7) c.4338+2530A>G:-,NOT_FOUND:-,NOT_FOUND 1 70555503 . G . . NT END=70573434;NT GT ./. 1 70573510 . G . . NT END=70587462;NT GT ./. 1 70587360 rs641909 C T 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2648,T/0.7352;Gene=LRRC7/NM_020794.2/1;CC=c.4507-103C>T;VC=Intron;DM=LRRC7/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:424:48.60:48.60:0.00:1.00:1.00:0.00:60:43.0:0:0:44:106:22:NM_020794.2(LRRC7) c.4507-103C>T,NM_020794.2(LRRC7) c.4507-103C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 70587571 . A . . NT END=70611482;NT GT ./. 1 70587581 rs150755311 T C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.9952,C/0.004792;NP=48;PC=1.000;Gene=LRRC7/NM_020794.2/1;CC=c.*11T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:8:0:0:8,11:274,365:25.60,0.00:2.53,0.00:23.07,0.00:0.99,0.00:0.98,0.00:1.00,0.00:60,60:35.4,2.9:0,0:0,0:113,108:37,43:12,20:NM_020794.2(LRRC7) c.*11T>C,-:0.01,-:0.007386,- 1 70611347 rs595662 A G 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.02097,G/0.979;PC=0.001;Gene=LRRC40/NM_017768.4/1;CC=c.*136T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:281:32.39:32.39:0.00:1.00:1.00:0.00:60:37.0:0:0:31:120:7:NM_017768.4(LRRC40) c.*136T>C,NM_017768.4(LRRC40) c.*136T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 70611589 . C . . NT END=70614169;NT GT ./. 1 70614356 . C . . NT END=70616810;NT GT ./. 1 70616889 . C . . NT END=70618115;NT GT ./. 1 70618227 . C . . NT END=70621371;NT GT ./. 1 70621480 . C . . NT END=70625012;NT GT ./. 1 70625122 . C . . NT END=70639147;NT GT ./. 1 70639194 . C . . NT END=70639304;NT GT ./. 1 70639393 . C . . NT END=70641492;NT GT ./. 1 70641666 . C . . NT END=70644533;NT GT ./. 1 70644677 . C . . NT END=70646768;NT GT ./. 1 70646615 rs193277442 G C 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9968,C/0.003195;NP=3;Gene=LRRC40/NM_017768.4/1;CC=c.661+154C>G;VC=Intron;DM=LRRC40/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:15:15:0:0:8,7:254,240:24.70,0.00:24.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.0,1.4:0,0:0,0:46,32:105,119:36,26:NM_017768.4(LRRC40) c.661+154C>G,-:0.0037,-:NOT_FOUND,- 1 70646893 . C . . NT END=70650467;NT GT ./. 1 70650598 . C . . NT END=70652947;NT GT ./. 1 70653022 . C . . NT END=70654774;NT GT ./. 1 70654957 . C . . NT END=70671072;NT GT ./. 1 70654981 . G GA 15 sb;idl,rn VT=INS;SST=Single;DP=57;NP=2;Gene=LRRC40/NM_017768.4/1;CC=c.152-26_152-25insT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G,GA,D:53:29:7:12:4,38,6,5:97,1143,226,200:5.85,0.00,14.67,7.91:-0.58,0.00,12.91,1.19:6.43,0.00,1.76,6.73:0.00,0.00,0.83,0.00:0.00,0.00,0.89,0.00:0.00,0.00,0.93,0.00:60,60,60,60:55.5,13.1,42.7,63.4:1,0,1,3:0,0,0,0:35,126,82,99:105,21,68,52:13,21,25,15:-,NM_017768.4(LRRC40) c.152-26_152-25insT:-,NOT_FOUND:-,NOT_FOUND 1 70664898 rs56339801 TCA T 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7;PC=0.004;Gene=LRRC40/NM_017768.4/1;CC=c.151+6173_151+6174delTG;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T:2:4:0:4:2:128:6.65:3.23:3.43:0.51:0.51:0.79:60:42.5:2:0:60:91:13:NM_017768.4(LRRC40) c.151+6173_151+6174delTG,NM_017768.4(LRRC40) c.151+6173_151+6174delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 70671224 . G . . NT END=70687319;NT GT ./. 1 70687524 . T . . NT END=70694104;NT GT ./. 1 70694681 rs3835560 GA G 18 idl,rn VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=GA/0.8069,G/0.1931;NP=9;PC=0.002;Gene=SRSF11/NM_001190987.1/1;CC=c.337+455delA;VC=Intron;Gene=SRSF11/NM_004768.3/0;CC=c.337+455delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C,GA,I,G:71:45:7:8:2,1,54,6,8:30,30,1644,226,243:0.59,1.30,0.00,13.55,17.74:-0.38,-0.19,0.00,5.75,11.17:0.96,1.49,0.00,7.81,6.57:0.00,0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.00,0.96:60,60,60,60,60:97.0,105.0,13.6,2.0,13.0:1,0,0,1,0:0,0,0,0,0:72,120,79,56,78:76,31,72,94,72:56,0,36,12,46:-,NM_004768.3(SRSF11) c.337+444delA:-,NOT_FOUND:-,NOT_FOUND 1 70696382 . CT C 34 idl,rn VT=DEL;SST=Single;DP=60;NP=2;PC=1.000;Gene=SRSF11/NM_001190987.1/1;CC=c.338-1557delT;VC=Intron;Gene=SRSF11/NM_004768.3/0;CC=c.338-1557delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:58:36:6:14:40,5,13:1232,187,439:0.00,10.89,34.34:0.00,5.12,18.93:0.00,5.77,15.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:19.6,12.8,3.7:0,1,1:0,0,0:54,59,86:86,91,62:29,7,29:-,NM_004768.3(SRSF11) c.338-1568delT:-,NOT_FOUND:-,NOT_FOUND 1 70698062 . T . . NT END=70700378;NT GT ./. 1 70700473 . T . . NT END=70701183;NT GT ./. 1 70701235 . T . . NT END=70703107;NT GT ./. 1 70703237 . T . . NT END=70705121;NT GT ./. 1 70705205 . T . . NT END=70710366;NT GT ./. 1 70710500 . T . . NT END=70712500;NT GT ./. 1 70712592 . T . . NT END=70712799;NT GT ./. 1 70712833 . G . . NT END=70715613;NT GT ./. 1 70715732 . T . . NT END=70716047;NT GT ./. 1 70716188 . T . . NT END=70716290;NT GT ./. 1 70716490 . T . . NT END=70728399;NT GT ./. 1 70728531 . C . . NT END=70736538;NT GT ./. 1 70736640 . C . . NT END=70740402;NT GT ./. 1 70740502 . C . . NT END=70742447;NT GT ./. 1 70742528 . C . . NT END=70758070;NT GT ./. 1 70742532 . CA C 14 idl,rn VT=DEL;SST=Single;DP=45;NP=48;PC=0.437;Gene=ANKRD13C/NM_030816.4/1;CC=c.1216-6delT;VC=Intron;DM=ANKRD13C/GPCR_chapero_1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,CA,I,C:44:27:2:7:2,34,2,6:42,1052,56,214:2.03,0.00,3.20,14.41:-0.30,0.00,2.22,9.95:2.33,0.00,0.98,4.46:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.96:60,60,60,70:21.0,25.1,98.0,15.7:1,0,0,1:0,0,0,0:61,93,76,105:89,41,74,46:25,28,16,13:-,NM_030816.4(ANKRD13C) c.1216-6delT:-,NOT_FOUND:-,NOT_FOUND 1 70758233 . C . . NT END=70759186;NT GT ./. 1 70759304 . C . . NT END=70761812;NT GT ./. 1 70761945 . C . . NT END=70766446;NT GT ./. 1 70766592 . C . . NT END=70771906;NT GT ./. 1 70771974 . C . . NT END=70779427;NT GT ./. 1 70779474 . C . . NT END=70781163;NT GT ./. 1 70781250 . C . . NT END=70790535;NT GT ./. 1 70790641 . C . . NT END=70801740;NT GT ./. 1 70801783 . C . . NT END=70819661;NT GT ./. 1 70802829 rs58715407 A AAC 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.642,AAC/0.358,AACAC/.;DB;DBA=NA;PAF=A/0.642,AAC/0.358,AACAC/.;NP=109;NP=2;Gene=ANKRD13C/NM_030816.4/1;CC=c.431-1048_431-1047insGT;VC=Intron;DM=ANKRD13C/Ank_2;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,AAC:5:3:4:0:2,3:65,121:0.00,9.53:0.00,6.45:0.00,3.07:0.00,0.73:0.00,0.89:0.00,0.89:60,60:0.0,40.0:0,2:0,0:115,71:23,79:27,18:-,NM_030816.4(ANKRD13C) c.431-1048_431-1047insGT:-,NOT_FOUND:-,NOT_FOUND 1 70820146 . C . . NT END=70820634;NT GT ./. 1 70820892 . G . . NT END=70832126;NT GT ./. 1 70832221 . g . . NT END=70877098;NT GT ./. 1 70877340 . G . . NT END=70881638;NT GT ./. 1 70877495 rs490574 T A 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.147,A/0.853;Gene=CTH/NM_001190463.1/0;CC=c.168+229T>A;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.168+229T>A;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.168+229T>A;VC=Intron;DM=CTH/Cys_Met_Meta_PP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:0:0:0:30:922:106.37:0.00:106.37:1.00:0.00:1.00:60:43.9:0:0:103:46:26:NM_001902.5(CTH) c.168+229T>A,NM_001902.5(CTH) c.168+229T>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 70881721 . G . . NT END=70883619;NT GT ./. 1 70881913 rs501939 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2011,A/0.7989;Gene=CTH/NM_001190463.1/0;CC=c.250+193G>A;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.250+193G>A;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.250+193G>A;VC=Intron;DM=CTH/Cys_Met_Meta_PP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:42.8:0:0:133:17:7:NM_001902.5(CTH) c.250+193G>A,NM_001902.5(CTH) c.250+193G>A:0.78,0.78:NOT_FOUND,NOT_FOUND 1 70883716 . G . . NT END=70887248;NT GT ./. 1 70883840 rs1145920 A G 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2013,G/0.7987;Gene=CTH/NM_001190463.1/0;CC=c.250+2120A>G;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.346+125A>G;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.346+125A>G;VC=Intron;DM=CTH/Cys_Met_Meta_PP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:C,G:16:0:0:0:1,15:6,447:0.17,51.39:0.00,0.00:0.17,51.39:0.00,1.00:0.00,0.00:0.00,1.00:60,60:72.0,38.4:0,0:0,0:140,73:11,77:0,26:NM_001902.5(CTH) c.346+125A>G,NM_001902.5(CTH) c.346+125A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 70887099 rs672203 A G 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7059,G/0.2941;PC=0.005;Gene=CTH/NM_001190463.1/0;CC=c.251-150A>G;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.347-150A>G;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.347-150A>G;VC=Intron;DM=CTH/Cys_Met_Meta_PP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:13:13:0:0:4,9:115,240:0.00,24.82:0.00,24.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.5,31.3:0,0:0,0:33,16:117,135:13,12:-,NM_001902.5(CTH) c.347-150A>G:-,0.3:-,NOT_FOUND 1 70887359 . G . . NT END=70889967;NT GT ./. 1 70890100 . G . . NT END=70895476;NT GT ./. 1 70895535 . G . . NT END=70895999;NT GT ./. 1 70895654 rs144207053 TA T 8 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=14;PC=0.555;Gene=CTH/NM_001190463.1/0;CC=c.550+131delA;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.646+131delA;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.514+131delA;VC=Intron;DM=CTH/Cys_Met_Meta_PP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:TA,T:14:0:0:3:11,3:275,93:0.00,7.60:0.00,0.00:0.00,7.60:0.00,0.56:0.00,0.00:0.00,0.56:60,60:28.5,0.0:0,0:0,0:102,67:48,84:30,36:-,NM_001902.5(CTH) c.646+121delA:-,NOT_FOUND:-,NOT_FOUND 1 70896078 . G . . NT END=70897765;NT GT ./. 1 70896231 rs139786655 A AT 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.764,AT/0.236;NP=52;PC=0.031;Gene=CTH/NM_001190463.1/0;CC=c.628+165_628+166insT;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.724+165_724+166insT;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.592+165_592+166insT;VC=Intron;DM=CTH/Cys_Met_Meta_PP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AT:5:1:3:0:2,3:68,91:0.00,9.07:0.00,-0.40:0.00,9.47:0.00,0.78:0.00,0.73:0.00,0.97:60,60:35.5,38.7:0,0:0,0:77,93:73,58:19,4:-,NM_001902.5(CTH) c.724+154_724+155insT:-,NOT_FOUND:-,NOT_FOUND 1 70897919 . G . . NT END=70899510;NT GT ./. 1 70899633 . G . . NT END=70900807;NT GT ./. 1 70900624 rs475263 T C 46 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.225,C/0.775;Gene=CTH/NM_001190463.1/0;CC=c.904-184T>C;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.1000-184T>C;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.868-184T>C;VC=Intron;DM=CTH/Cys_Met_Meta_PP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:400:45.72:43.78:1.94:1.00:1.00:1.00:60:37.0:0:0:17:132:11:NM_001902.5(CTH) c.1000-184T>C,NM_001902.5(CTH) c.1000-184T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 70900861 . G . . NT END=70904370;NT GT ./. 1 70904510 . G . . NT END=70904783;NT GT ./. 1 70904523 rs58815241 T TTGTG 184 idl,rn VT=INS;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.9127,TTG/.,TTGTG/.,TTGTGTG/.,TTGTGTGTG/0.08726;DB;DBA=NA;PAF=T/0.6278,TTGTG/0.3722,TTGTGTG/.;NP=2;NP=201;NP=4;PC=0.935;Gene=CTH/NM_001190463.1/0;CC=c.1095+43_1095+44insGTGT;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.1191+43_1191+44insGTGT;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.1059+43_1059+44insGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTGTG:121:86:82:0:60,61:1893,2544:0.00,183.66:0.00,90.18:0.00,93.48:0.00,1.00:0.00,1.00:0.00,1.00:60,70:10.4,22.2:0,21:0,0:121,63:25,74:13,26:-,NM_001902.5(CTH) c.1191+14_1191+15insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 70904582 rs149061359 A G 136 nt VT=SNV;PN=T;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.997,G/0.002995;NP=21;Gene=CTH/NM_001190463.1/0;CC=c.1095+73A>G;VC=Intron;Gene=CTH/NM_001902.5/1;CC=c.1191+73A>G;VC=Intron;Gene=CTH/NM_153742.4/0;CC=c.1059+73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:94:35:0:0:51,43:1637,1436:0.00,135.97:0.00,37.31:0.00,98.66:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.2,37.9:0,0:0,0:99,94:52,55:24,33:-,NM_001902.5(CTH) c.1191+73A>G:-,0.0037:-,NOT_FOUND 1 70904800 rs1021737 G T 62 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=in-clinvar;PAF=G/0.7947,T/0.2053;Gene=CTH/NM_001190463.1/0;CC=c.1112G>T;ProtCh=p.S371I;VC=Missense;Gene=CTH/NM_001902.5/1;CC=c.1208G>T;ProtCh=p.S403I;VC=Missense;Gene=CTH/NM_153742.4/0;CC=c.1076G>T;ProtCh=p.S359I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:25:0:0:22,20:721,652:0.00,62.13:0.00,41.28:0.00,20.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,32.7:0,0:0,0:81,83:54,59:37,31:-,NM_001902.5(CTH) c.1208G>T (p.Ser403Ile):-,0.23:-,0.237813 1 70904811 . T . . NT END=71318521;NT GT ./. 1 70946705 rs61784780 A ATGTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=20;NP=235;NP=5;NP=6;NP=6;PC=0.020;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,ATGTG:3:3:3:0:1,2:34,100:0.00,6.65:0.00,5.11:0.00,1.54:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,0.0:0,1:0,0:111,50:30,98:0,13:-,chr1 g.70946705_70946706insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 70996074 rs55716390 T TA 13 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8183,TA/0.1817;DB;DBA=NA;PAF=T/0.8183,TA/0.1817;DB;DBA=NA;PAF=T/0.8183,TA/0.1817;NP=107;PC=0.038;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,T,TA:9:12:8:0:1,3,5:7,74,215:0.17,0.00,12.59:0.17,0.00,12.59:0.00,0.00,0.00:0.00,0.00,0.92:0.00,0.00,0.92:0.00,0.00,0.00:60,60,60:69.0,32.7,61.6:0,0,3:0,0,0:61,52,47:90,99,103:0,5,27:-,chr1 g.70996074_70996075insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 71318543 . C . . NT END=71327987;NT GT ./. 1 71328081 . c . . NT END=71331371;NT GT ./. 1 71331498 rs1409986 A G 43 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.02656,G/0.9734;Gene=PTGER3/NM_198714.1/1;CC=c.*24-12956T>C;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1105-12956T>C;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1078-12956T>C;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:36:18:0:0:20,1,15:688,13,467:0.00,0.16,43.47:0.00,-0.12,4.60:0.00,0.29,38.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.4,59.0,36.2:0,0,0:0,0,0:106,6,107:34,145,44:19,0,27:-,NM_198714.1(PTGER3) c.*24-12956T>C:-,0.96:-,0.93972 1 71331517 . C . . NT END=71418114;NT GT ./. 1 71383086 rs59163586 TTGTG T 9 sb,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=42;PC=0.001;Gene=PTGER3/NM_198714.1/1;CC=c.*23+36356_*23+36359delCACA;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1104+36356_1104+36359delCACA;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1078-64548_1078-64545delCACA;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:TTGTG,T:8:6:0:3:5,3:166,95:0.00,8.63:0.00,0.86:0.00,7.77:0.00,0.67:0.00,0.93:0.00,0.90:60,60:8.4,15.7:0,0:0,0:96,68:54,82:33,5:-,NM_198714.1(PTGER3) c.*23+36356_*23+36359delCACA:-,NOT_FOUND:-,NOT_FOUND 1 71417959 rs10701283 G GAATT 22 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1412,GAATT/0.8588;DB;DBA=NA;PAF=G/0.1412,GAATT/0.8588,GATT/.;NP=6;Gene=PTGER3/NM_198714.1/1;CC=c.*23+1486_*23+1487insAATT;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1104+1486_1104+1487insAATT;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1077+60028_1077+60029insAATT;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:G,GAATT:13:13:7:0:6,7:153,221:0.00,21.55:0.00,21.55:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:46.8,1.7:0,0:0,0:71,75:80,76:17,34:-,NM_198714.1(PTGER3) c.*23+1486_*23+1487insAATT:-,0.86:-,NOT_FOUND 1 71418743 . c . . NT END=71419445;NT GT ./. 1 71419473 . c . . NT END=71436463;NT GT ./. 1 71419499 rs571705 C T 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.1322,T/0.8678;Gene=PTGER3/NM_198714.1/1;CC=c.1170-27G>A;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1078-27G>A;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1077+58489G>A;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;Gene=PTGER3/NM_001126044.1/0;CC=c.1170-27G>A;VC=Intron;Gene=PTGER3/NM_198718.1/0;CC=c.1078-27G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:5:0:0:10,8:348,250:0.00,23.44:0.00,6.54:0.00,16.90:0.00,0.99:0.00,0.94:0.00,1.00:60,60:13.6,41.2:0,0:0,0:91,103:58,46:45,15:-,NM_198714.1(PTGER3) c.1170-27G>A:-,0.88:-,0.835534 1 71437417 . C . . NT END=71439979;NT GT ./. 1 71440072 . c . . NT END=71471536;NT GT ./. 1 71471600 . a . . NT END=71471834;NT GT ./. 1 71471750 rs11209733 C G 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6835,G/0.3165;PC=0.051;Gene=PTGER3/NM_198714.1/1;CC=c.1077+6238G>C;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1077+6238G>C;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1077+6238G>C;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;Gene=PTGER3/NM_001126044.1/0;CC=c.1077+6238G>C;VC=Intron;Gene=PTGER3/NM_198718.1/0;CC=c.1077+6238G>C;VC=Intron;Gene=PTGER3/NM_198719.1/0;CC=c.1077+6238G>C;VC=Intron;Gene=PTGER3/NM_198715.2/0;CC=c.*6148G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:21:0:0:12,13:405,427:0.00,41.38:0.00,39.05:0.00,2.34:0.00,1.00:0.00,1.00:0.00,0.95:60,60:0.0,56.8:0,0:0,0:53,56:98,95:37,37:-,NM_198714.1(PTGER3) c.1077+6238G>C:-,0.3:-,NOT_FOUND 1 71471875 rs12130153 T C 72 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.6835,C/0.3165;Gene=PTGER3/NM_198714.1/1;CC=c.1077+6113A>G;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1077+6113A>G;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1077+6113A>G;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;Gene=PTGER3/NM_001126044.1/0;CC=c.1077+6113A>G;VC=Intron;Gene=PTGER3/NM_198718.1/0;CC=c.1077+6113A>G;VC=Intron;Gene=PTGER3/NM_198719.1/0;CC=c.1077+6113A>G;VC=Intron;Gene=PTGER3/NM_198715.2/0;CC=c.*6023A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:44:0:0:25,32:770,976:71.90,0.00:42.52,0.00:29.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.0,5.3:0,0:0,0:65,57:84,83:33,36:NM_198714.1(PTGER3) c.1077+6113A>G,-:0.3,-:NOT_FOUND,- 1 71471950 rs2744916 T C 73 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.06669,C/0.9333;Gene=PTGER3/NM_198714.1/1;CC=c.1077+6038A>G;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1077+6038A>G;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1077+6038A>G;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;Gene=PTGER3/NM_001126044.1/0;CC=c.1077+6038A>G;VC=Intron;Gene=PTGER3/NM_198718.1/0;CC=c.1077+6038A>G;VC=Intron;Gene=PTGER3/NM_198719.1/0;CC=c.1077+6038A>G;VC=Intron;Gene=PTGER3/NM_198715.2/0;CC=c.*5948A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:36:0:0:24,31:781,995:73.19,0.00:26.98,0.00:46.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.1,6.5:0,0:0,0:78,86:67,64:31,35:NM_198714.1(PTGER3) c.1077+6038A>G,-:0.94,-:NOT_FOUND,- 1 71476872 rs5682 G A 80 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.6835,A/0.3165;PC=0.003;Gene=PTGER3/NM_198714.1/1;CC=c.1077+1116C>T;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.1077+1116C>T;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.1077+1116C>T;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;Gene=PTGER3/NM_001126044.1/0;CC=c.1077+1116C>T;VC=Intron;Gene=PTGER3/NM_198718.1/0;CC=c.1077+1116C>T;VC=Intron;Gene=PTGER3/NM_198719.1/0;CC=c.1077+1116C>T;VC=Intron;Gene=PTGER3/NM_198715.2/0;CC=c.*1026C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:29:0:0:25,28:835,922:79.52,0.00:32.06,0.00:47.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,3.2:0,0:0,0:80,78:71,73:27,36:NM_198714.1(PTGER3) c.1077+1116C>T,-:0.3,-:NOT_FOUND,- 1 71478168 . C . . NT END=71512363;NT GT ./. 1 71496928 . AAC A 9 idl,rn VT=DEL;SST=Single;DP=8;NP=1;Gene=PTGER3/NM_198714.1/1;CC=c.897+15434_897+15435delGT;VC=Intron;Gene=PTGER3/NM_198716.1/0;CC=c.897+15434_897+15435delGT;VC=Intron;Gene=PTGER3/NM_198717.1/0;CC=c.897+15434_897+15435delGT;VC=Intron;Gene=PTGER3/NR_028292.1/0;VC=NonCoding;Gene=PTGER3/NR_028293.1/0;VC=NonCoding;Gene=PTGER3/NR_028294.1/0;VC=NonCoding;Gene=PTGER3/NM_001126044.1/0;CC=c.897+15434_897+15435delGT;VC=Intron;Gene=PTGER3/NM_198718.1/0;CC=c.897+15434_897+15435delGT;VC=Intron;Gene=PTGER3/NM_198719.1/0;CC=c.897+15434_897+15435delGT;VC=Intron;Gene=PTGER3/NM_198715.2/0;CC=c.897+15434_897+15435delGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AAC,A:4:6:0:7:1,3:32,221:0.00,9.45:0.00,6.35:0.00,3.10:0.00,0.67:0.00,0.93:0.00,0.85:60,60:67.0,33.0:0,4:0,0:64,71:62,79:0,15:-,NM_198714.1(PTGER3) c.897+15434_897+15435delGT:-,NOT_FOUND:-,NOT_FOUND 1 71513261 . G . . NT END=71530756;NT GT ./. 1 71530821 . C . . NT END=71531360;NT GT ./. 1 71531436 . c . . NT END=71532458;NT GT ./. 1 71532618 . C . . NT END=71534958;NT GT ./. 1 71535046 . C . . NT END=71536509;NT GT ./. 1 71536574 rs11583800 G C 110 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.9539,C/0.04613;PC=1.000;Gene=ZRANB2/NM_005455.4/1;CC=c.619C>G;ProtCh=p.R207G;VC=Missense;Gene=ZRANB2/NM_203350.2/0;CC=c.619C>G;ProtCh=p.R207G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:47:0:0:34,32:1139,1024:110.29,0.00:57.71,0.00:52.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,1.4:0,0:0,0:76,71:72,77:33,30:NM_203350.2(ZRANB2) c.619C>G (p.Arg207Gly),-:0.06,-:0.073812,- 1 71536680 . C . . NT END=71537803;NT GT ./. 1 71537939 . C . . NT END=71538154;NT GT ./. 1 71538232 . C . . NT END=71542477;NT GT ./. 1 71542561 . C . . NT END=71544139;NT GT ./. 1 71544249 . C . . NT END=71544338;NT GT ./. 1 71544392 . C . . NT END=71546622;NT GT ./. 1 71546679 . C . . NT END=71873128;NT GT ./. 1 71558199 rs113245139 T TAGAC 29 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;NP=16;NP=18;NP=39;NP=83;PC=0.009;Gene=ZRANB2-AS2/NR_046217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:TAGAC:8:7:9:0:8:290:29.11:21.90:7.20:1.00:1.00:1.00:70:10.2:1:0:83:58:37:NR_046217.1(ZRANB2-AS2) n.131+812_131+813insAGAC,NR_046217.1(ZRANB2-AS2) n.131+812_131+813insAGAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 71628130 rs397690255 T TACAC 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=3;NP=45;NP=65;Gene=ZRANB2-AS2/NR_046217.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TACAC:5:4:3:0:2,3:68,92:0.00,9.17:0.00,4.39:0.00,4.78:0.00,0.78:0.00,0.97:0.00,0.94:60,60:22.0,161.7:0,0:0,0:104,28:46,123:7,16:-,NR_046217.1(ZRANB2-AS2) n.132-60610_132-60609insACAC:-,NOT_FOUND:-,NOT_FOUND 1 71700128 rs397864069 C T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5513,T/0.4487;PC=0.029;Gene=ZRANB2-AS2/NR_046217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:4:3:0:0:2,2:71,68:0.00,6.55:0.00,3.27:0.00,3.27:0.00,0.51:0.00,0.89:0.00,0.89:60,60:45.0,82.5:1,1:0,0:95,80:55,63:36,11:-,NR_046217.1(ZRANB2-AS2) n.190-2685C>T:-,NOT_FOUND:-,NOT_FOUND 1 71831882 rs373711215 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6775,G/0.3225;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:1:4:138:15.71:7.70:8.00:1.00:1.00:1.00:60:52.0:0:0:78:50:5:chr1 g.71831881A>G (intergenic),chr1 g.71831881A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 71873254 . C . . NT END=72058499;NT GT ./. 1 72058192 rs1611913 C T 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1504,T/0.8496;PC=0.004;Gene=NEGR1/NM_173808.2/1;CC=c.940+308G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:40.8:0:0:27:124:20:NM_173808.2(NEGR1) c.940+308G>A,NM_173808.2(NEGR1) c.940+308G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 72058367 rs1334004 C T 41 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1502,T/0.8498;PC=0.002;Gene=NEGR1/NM_173808.2/1;CC=c.940+133G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:13:0:0:13:351:41.24:39.35:1.89:1.00:1.00:1.00:60:83.0:0:0:82:57:43:NM_173808.2(NEGR1) c.940+133G>A,NM_173808.2(NEGR1) c.940+133G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 72058405 rs1334005 T C 78 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.1502,C/0.8498;PC=0.004;Gene=NEGR1/NM_173808.2/1;CC=c.940+95A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:20:0:0:22:679:78.33:70.18:8.15:1.00:1.00:1.00:60:74.5:0:0:41:109:20:NM_173808.2(NEGR1) c.940+95A>G,NM_173808.2(NEGR1) c.940+95A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 72058552 rs1413368 G A 263 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.1504,A/0.8496;PC=0.002;Gene=NEGR1/NM_173808.2/1;CC=c.888C>T;ProtCh=p.T296=;VC=Silent;DM=NEGR1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:68:49:0:0:68:2304:262.79:131.20:131.59:1.00:1.00:1.00:60:37.2:0:0:90:57:28:NM_173808.2(NEGR1) c.888C>T (p.(=)),NM_173808.2(NEGR1) c.888C>T (p.(=)):0.88,0.88:0.89674,0.89674 1 72058652 . C . . NT END=72076708;NT GT ./. 1 72058775 rs1413369 G A 72 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.1502,A/0.8498;Gene=NEGR1/NM_173808.2/1;CC=c.789-124C>T;VC=Intron;DM=NEGR1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:1:0:0:20:628:72.31:1.99:70.32:1.00:1.00:1.00:60:37.6:0:0:91:59:38:NM_173808.2(NEGR1) c.789-124C>T,NM_173808.2(NEGR1) c.789-124C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 72076830 . C . . NT END=72163690;NT GT ./. 1 72163823 . C . . NT END=72241854;NT GT ./. 1 72198175 . CTG C,CTGTG 6 nt VT=DEL;SST=Single;DP=4;NP=151;DM=NEGR1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:22:CTG,CTGTG,C:4:4:1:2:1,1,2:12,35,64:0.00,3.25,6.46:0.00,3.31,3.23:0.00,-0.06,3.23:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.89:60,60,60:63.0,33.0,37.0:0,0,0:0,0,0:132,67,42:19,83,77:0,0,1:NM_173808.2(NEGR1) c.536-34355_536-34354delCA,NM_173808.2(NEGR1) c.536-34355_536-34354dupCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 72198204 rs6680931 C T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4948,T/0.5052;Gene=NEGR1/NM_173808.2/1;CC=c.536-34382G>A;VC=Intron;DM=NEGR1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:3:0:0:2,2:71,67:0.00,6.45:0.00,1.49:0.00,4.96:0.00,0.51:0.00,0.89:0.00,0.51:60,60:37.0,82.0:0,0:0,0:69,50:50,95:1,45:-,NM_173808.2(NEGR1) c.536-34382G>A:-,0.43:-,NOT_FOUND 1 72241677 . A AAAAT 11 rn VT=INS;SST=Single;DP=10;NP=9;PC=0.845;Gene=NEGR1/NM_173808.2/1;CC=c.535+177_535+178insATTT;VC=Intron;DM=NEGR1/I-set;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,AAAAT,D:10:10:4:1:5,4,1:164,122,33:0.00,11.41,2.55:0.00,11.41,2.55:0.00,0.00,0.00:0.00,0.84,0.00:0.00,0.84,0.00:0.00,0.00,0.00:60,60,60:0.0,2.2,0.0:0,0,0:0,0,0:14,33,27:136,117,124:14,15,0:-,NM_173808.2(NEGR1) c.535+177_535+178insATTT:-,NOT_FOUND:-,NOT_FOUND 1 72241981 . C . . NT END=72400761;NT GT ./. 1 72242039 rs6424448 G A 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.2516,A/0.7484;PC=0.001;Gene=NEGR1/NM_173808.2/1;CC=c.410-59C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:9:0:0:24:746:85.95:23.81:62.14:1.00:1.00:1.00:60:42.8:0:0:99:51:30:NM_173808.2(NEGR1) c.410-59C>T,NM_173808.2(NEGR1) c.410-59C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 1 72353675 . GAC G 17 rn VT=DEL;SST=Single;DP=6;NP=14;PC=0.005;Gene=NEGR1/NM_173808.2/1;CC=c.409+47085_409+47086delGT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GAC,G:6:5:0:6:1,5:11,161:0.00,17.37:0.00,12.17:0.00,5.20:0.00,0.99:0.00,1.00:0.00,0.98:60,60:106.0,9.6:0,0:0,0:101,17:38,134:0,4:NM_173808.2(NEGR1) c.409+47085_409+47086delGT,NM_173808.2(NEGR1) c.409+47085_409+47086delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 72400995 . C . . NT END=72748001;NT GT ./. 1 72732407 rs397712071 A AAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6078,AAC/0.3922,AACAC/.,AACACAC/.;DB;DBA=NA;PAF=NA;NP=16;NP=94;PC=0.001;Gene=NEGR1/NM_173808.2/1;CC=c.176+15594_176+15595insGT;VC=Intron;DM=NEGR1/I-set;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,AAC:3:4:3:0:1,2:34,96:0.00,6.55:0.00,1.49:0.00,5.06:0.00,0.51:0.00,0.51:0.00,0.89:60,60:86.0,5.5:0,1:0,0:32,43:119,93:0,20:-,NM_173808.2(NEGR1) c.176+15594_176+15595insGT:-,NOT_FOUND:-,NOT_FOUND 1 72740634 rs7549792 G A 118 nt VT=SNV;PN=C;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.6034,A/0.3966;PC=1.000;Gene=NEGR1/NM_173808.2/1;CC=c.176+7368C>T;VC=Intron;DM=NEGR1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:62:36:0:0:38,23,1:1175,724,11:117.90,0.00,0.03:56.05,0.00,0.11:61.85,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.2,8.2,11.0:0,0,0:0,0,0:80,64,92:68,86,58:45,44,0:NM_173808.2(NEGR1) c.176+7368C>T,-:0.4,-:NOT_FOUND,- 1 72747844 rs3101341 C T 47 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.4054,T/0.5946;Gene=NEGR1/NM_173808.2/1;CC=c.176+158G>A;VC=Intron;DM=NEGR1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:32:0:0:14,18:453,483:0.00,47.31:0.00,47.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.0,39.6:0,0:0,0:42,28:108,111:30,20:-,NM_173808.2(NEGR1) c.176+158G>A:-,0.6:-,NOT_FOUND 1 72748434 . t . . NT END=74492496;NT GT ./. 1 72748567 rs66495454 G GTCCT 29 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.7859,GTCC/.,GTCCT/0.2141;NP=2;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTCCT:27:3:10:0:17,10:521,317:0.00,28.75:0.00,0.72:0.00,28.03:0.00,1.00:0.00,0.77:0.00,1.00:60,60:22.5,12.8:0,0:0,0:95,98:54,51:26,26:-,NM_173808.2(NEGR1) c.-100-u291_-100-u290insAGGA:-,0.28:-,NOT_FOUND 1 73361364 rs71078136 TTGTGTGTGTGTG T 15 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=345;PC=0.026;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:TTGTGTGTGTGTG,T:6:3:0:5:1,5:29,136:0.00,14.80:0.00,4.46:0.00,10.35:0.00,0.99:0.00,1.00:0.00,1.00:60,70:0.0,37.2:0,0:0,0:132,78:19,73:0,22:-,chr1 g.73361365_73361376delTGTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 73604389 rs202241279 C CGTGT 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=2;NP=22;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CGTGT:4:3:3:0:1,3:35,93:0.00,9.75:0.00,4.48:0.00,5.28:0.00,0.85:0.00,0.99:0.00,0.99:60,60:34.0,18.3:0,0:0,0:116,61:31,89:0,20:-,chr1 g.73604389_73604390insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 74421728 . AAC A 10 rn VT=DEL;SST=Single;DP=4;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:2:0:4:3:120:10.36:7.20:3.15:0.85:0.95:0.95:60:0.0:1:0:56:94:7:chr1 g.74421729_74421730delAC (intergenic),chr1 g.74421729_74421730delAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 74492654 . C . . NT END=74506896;NT GT ./. 1 74492769 rs1384884 G T 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1885,T/0.8115;Gene=LRRIQ3/NM_001105659.1/1;CC=c.1719-116C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:383:44.02:0.00:44.02:1.00:0.00:1.00:60:34.2:0:0:95:55:28:NM_001105659.1(LRRIQ3) c.1719-116C>A,NM_001105659.1(LRRIQ3) c.1719-116C>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 74506712 rs145968217 CAG C 20 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CAG/0.9403,C/0.0597;NP=31;Gene=LRRIQ3/NM_001105659.1/1;CC=c.1718+183_1718+184delCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:CAG,C:8:8:0:6:2,6:43,195:0.00,20.45:0.00,20.45:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:73.0,30.7:0,0:0,0:41,40:109,110:18,29:-,NM_001105659.1(LRRIQ3) c.1718+183_1718+184delCT:-,0.04:-,NOT_FOUND 1 74506753 rs6681458 T C 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.1617,C/0.8383;Gene=LRRIQ3/NM_001105659.1/1;CC=c.1718+144A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:16:0:0:16:496:57.17:57.17:0.00:1.00:1.00:0.00:60:40.8:0:0:28:123:22:NM_001105659.1(LRRIQ3) c.1718+144A>G,NM_001105659.1(LRRIQ3) c.1718+144A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 74506942 rs79435376 G A 89 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.9403,A/0.0597;Gene=LRRIQ3/NM_001105659.1/1;CC=c.1673C>T;ProtCh=p.A558V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:80:65:0:0:32,47,1:972,1513,11:89.28,0.00,-0.10:49.72,0.00,-0.02:39.56,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.4,4.2,11.0:0,0,0:0,0,0:74,49,150:75,100,1:38,31,0:NM_001105659.1(LRRIQ3) c.1673C>T (p.Ala558Val),-:0.04,-:0.033937,- 1 74507315 rs17094777 C T 120 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.9403,T/0.0597;PC=0.002;Gene=LRRIQ3/NM_001105659.1/1;CC=c.1300G>A;ProtCh=p.E434K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:58:0:0:48,40:1547,1274:0.00,120.11:0.00,47.19:0.00,72.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,40.9:0,0:0,0:64,87:84,63:35,40:-,NM_001105659.1(LRRIQ3) c.1300G>A (p.Glu434Lys):-,0.04:-,0.034076 1 74507618 . C . . NT END=74516213;NT GT ./. 1 74507711 rs7538410 T G 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.1633,G/0.8367;Gene=LRRIQ3/NM_001105659.1/1;CC=c.998-94A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A,G:29:8:0:0:1,28:8,935:0.18,106.38:0.00,17.83:0.18,88.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:60.0,37.1:0,0:0,0:59,91:92,58:0,38:NM_001105659.1(LRRIQ3) c.998-94A>C,NM_001105659.1(LRRIQ3) c.998-94A>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 74516256 . C . . NT END=74540344;NT GT ./. 1 74540149 rs12746996 A G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7444,G/0.2556;Gene=LRRIQ3/NM_001105659.1/1;CC=c.997+196T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:10:10:0:0:5,5:167,166:0.00,15.97:0.00,15.97:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:2.0,40.8:0,0:0,0:40,32:110,119:35,27:-,NM_001105659.1(LRRIQ3) c.997+196T>C:-,0.28:-,NOT_FOUND 1 74540475 . C . . NT END=74575077;NT GT ./. 1 74575182 rs1340472 C T 182 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.1951,T/0.8049;Gene=LRRIQ3/NM_001105659.1/1;CC=c.763G>A;ProtCh=p.A255T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:T:50:34:0:0:50:1581:181.84:90.41:91.43:1.00:1.00:1.00:60:45.0:0:0:61:85:35:NM_001105659.1(LRRIQ3) c.763G>A (p.Ala255Thr),NM_001105659.1(LRRIQ3) c.763G>A (p.Ala255Thr):0.84,0.84:0.822553,0.822553 1 74575238 . C . . NT END=74604127;NT GT ./. 1 74604188 rs12043976 G A 49 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7648,A/0.2352;PC=0.892;Gene=LRRIQ3/NM_001105659.1/1;CC=c.707+17229C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:28:0:0:16,23:531,782:49.27,0.00:19.98,0.00:29.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,0.6:0,0:0,0:72,83:73,52:25,28:NM_001105659.1(LRRIQ3) c.707+17229C>T,-:0.27,-:NOT_FOUND,- 1 74604219 . G . . NT END=74621416;NT GT ./. 1 74621551 . C . . NT END=74648221;NT GT ./. 1 74648408 rs17094900 C T 50 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9305,T/0.06949;PC=1.000;Gene=LRRIQ3/NM_001105659.1/1;CC=c.387G>A;ProtCh=p.M129I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:18:0:0:15,16:498,521:0.00,50.42:0.00,17.30:0.00,33.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,38.6:0,0:0,0:54,67:90,76:21,23:-,NM_001105659.1(LRRIQ3) c.387G>A (p.Met129Ile):-,0.05:-,0.033605 1 74648546 . C . . NT END=74649119;NT GT ./. 1 74649369 . C . . NT END=74663923;NT GT ./. 1 74649590 rs12029606 G A 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.764,A/0.236;Gene=LRRIQ3/NM_001105659.1/1;CC=c.1-222C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:14:1:0:0:4,10:117,303:9.98,0.00:-0.14,0.00:10.12,0.00:0.77,0.00:0.52,0.00:0.97,0.00:60,60:29.2,22.7:0,0:0,0:100,112:50,38:18,26:NM_001105659.1(LRRIQ3) c.1-222C>T,-:0.28,-:NOT_FOUND,- 1 74664045 . G . . NT END=74665347;NT GT ./. 1 74665530 . G . . NT END=74667001;NT GT ./. 1 74666833 rs17591703 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7961,G/0.2039;Gene=FPGT/NM_001199328.2/1;CC=c.290-169A>G;VC=Intron;Gene=FPGT/NM_001199329.2/0;CC=c.290-169A>G;VC=Intron;Gene=FPGT/NM_003838.4/0;CC=c.290-169A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.290-169A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.290-169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,G:6:6:0:0:2,4:52,125:0.00,12.75:0.00,12.75:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,48.5:0,0:0,0:103,48:47,102:12,31:-,NM_001112808.2(FPGT-TNNI3K) c.251-169A>G:-,0.25:-,NOT_FOUND 1 74667095 . G . . NT END=74670074;NT GT ./. 1 74669973 rs9425024 T G 100 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.1679,G/0.8321;Gene=FPGT/NM_001199328.2/1;CC=c.383-102T>G;VC=Intron;Gene=FPGT/NM_001199329.2/0;CC=c.383-919T>G;VC=Intron;Gene=FPGT/NM_003838.4/0;CC=c.383-102T>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.382+2879T>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.382+2879T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:24:0:0:27:872:100.01:78.74:21.27:1.00:1.00:1.00:60:36.0:0:0:34:117:27:NM_001112808.2(FPGT-TNNI3K) c.343+2879T>G,NM_001112808.2(FPGT-TNNI3K) c.343+2879T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 74670172 rs12046751 A G 88 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.7632,G/0.2368;PC=1.000;Gene=FPGT/NM_001199328.2/1;CC=c.448+32A>G;VC=Intron;Gene=FPGT/NM_001199329.2/0;CC=c.383-720A>G;VC=Intron;Gene=FPGT/NM_003838.4/0;CC=c.480A>G;ProtCh=p.K160=;VC=Silent;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.382+3078A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.382+3078A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:41:0:0:36,27:1140,941:0.00,88.31:0.00,50.65:0.00,37.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,41.9:0,0:0,0:98,73:52,70:26,27:-,NM_003838.3(FPGT) c.441A>G (p.(=)):-,0.28:-,0.331001 1 74671517 . A . . NT END=74701135;NT GT ./. 1 74701176 . G . . NT END=74701785;NT GT ./. 1 74701295 rs505508 T A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.02316,A/0.9768;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.383-491T>A;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.383-491T>A;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.40+120T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:156:17.98:0.00:17.98:1.00:0.00:1.00:60:42.0:0:0:131:20:16:NM_001112808.2(FPGT-TNNI3K) c.344-491T>A,NM_001112808.2(FPGT-TNNI3K) c.344-491T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 74701895 . G . . NT END=74715142;NT GT ./. 1 74715229 . G . . NT END=74716355;NT GT ./. 1 74716454 . G . . NT END=74737281;NT GT ./. 1 74716515 rs532890705 C CT 17 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.675+78dupT;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.675+78dupT;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.333+78dupT;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,CT,D:32:9:8:5:22,7,3:633,244,161:0.00,17.43,6.88:0.00,1.15,1.16:0.00,16.28,5.72:0.00,0.95,0.00:0.00,0.82,0.00:0.00,0.95,0.00:60,60,60:7.9,35.4,11.0:0,1,2:0,0,0:131,91,84:12,59,67:15,12,33:-,NM_001112808.2(FPGT-TNNI3K) c.636+62_636+63insT:-,NOT_FOUND:-,NOT_FOUND 1 74737081 rs514012 A G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8179,G/0.1821;PC=0.003;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.676-201A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.676-201A>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.334-201A>G;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:8:8:0:0:2,6:67,184:0.00,19.27:0.00,19.27:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.0,38.3:0,0:0,0:61,58:89,93:11,16:-,NM_001112808.2(FPGT-TNNI3K) c.637-201A>G:-,0.16:-,NOT_FOUND 1 74737393 . G . . NT END=74797133;NT GT ./. 1 74737597 rs1412827 A G 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4291,G/0.5709;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.786+205A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.786+205A>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.444+205A>G;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2;DM=FPGT-TNNI3K/Ank_4;DM=TNNI3K/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,G:11:1:0:0:5,6:109,187:0.00,18.32:0.00,3.71:0.00,14.61:0.00,0.98:0.00,0.70:0.00,1.00:60,60:20.8,31.2:0,0:0,0:85,86:66,64:26,56:-,NM_001112808.2(FPGT-TNNI3K) c.747+205A>G:-,0.61:-,NOT_FOUND 1 74796863 rs3816403 A G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9473,G/0.05272;PC=0.006;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.787-271A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.787-271A>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.445-271A>G;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2;DM=FPGT-TNNI3K/Ank_4;DM=TNNI3K/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:9:9:0:0:5,4:131,102:0.00,9.42:0.00,9.42:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:33.0,63.2:0,0:0,0:26,42:125,108:3,20:-,NM_001112808.2(FPGT-TNNI3K) c.748-271A>G:-,0.04:-,NOT_FOUND 1 74796885 . C G 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.787-249C>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.787-249C>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.445-249C>G;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2;DM=FPGT-TNNI3K/Ank_4;DM=TNNI3K/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,G:10:10:0:0:5,5:164,131:0.00,12.45:0.00,12.45:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:50.6,33.0:0,0:0,0:58,48:92,103:30,3:-,NM_001112808.2(FPGT-TNNI3K) c.748-249C>G:-,NOT_FOUND:-,NOT_FOUND 1 74797233 . G . . NT END=74801694;NT GT ./. 1 74801834 . G . . NT END=74808525;NT GT ./. 1 74801864 rs11210450 A G 155 nt VT=SNV;PN=T;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.887,G/0.113;PC=0.001;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.1024+31A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.1024+31A>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.682+31A>G;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:106:40:0:0:57,49:1869,1638:0.00,155.40:0.00,44.59:0.00,110.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,39.5:0,0:0,0:113,106:36,40:23,21:-,NM_001112808.2(FPGT-TNNI3K) c.985+31A>G:-,0.1:-,0.079898 1 74808671 . G . . NT END=74808758;NT GT ./. 1 74808864 . G . . NT END=74818949;NT GT ./. 1 74819045 . G . . NT END=74819663;NT GT ./. 1 74819077 rs6424586 T G 245 nt VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.0609,G/0.9391;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.1369+33T>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.1369+33T>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.1027+33T>G;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:G:64:29:0:0:64:2146:245.08:69.36:175.72:1.00:1.00:1.00:60:39.5:0:0:118:30:20:NM_001112808.2(FPGT-TNNI3K) c.1330+33T>G,NM_001112808.2(FPGT-TNNI3K) c.1330+33T>G:0.94,0.94:0.921882,0.921882 1 74819814 . G . . NT END=74832939;NT GT ./. 1 74832757 rs2880794 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3948,G/0.6052;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.1520-183A>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.1520-183A>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.1178-183A>G;VC=Intron;DM=FPGT-TNNI3K/Ank_2;DM=TNNI3K/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,G:11:11:0:0:5,6:159,210:0.00,20.57:0.00,20.57:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:2.0,41.7:0,0:0,0:32,59:119,92:20,27:-,NM_001112808.2(FPGT-TNNI3K) c.1481-183A>G:-,0.62:-,NOT_FOUND 1 74833027 . G . . NT END=74833591;NT GT ./. 1 74833649 . G . . NT END=74834705;NT GT ./. 1 74834799 . G . . NT END=74834890;NT GT ./. 1 74834949 . G . . NT END=74835074;NT GT ./. 1 74835270 . G . . NT END=74835971;NT GT ./. 1 74835788 rs12034234 T C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.405,C/0.595;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.2010-184T>C;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.2010-184T>C;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.1668-184T>C;VC=Intron;DM=FPGT-TNNI3K/Pkinase_Tyr;DM=TNNI3K/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:6:6:0:0:5,1:166,34:17.81,0.00:17.81,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:49.8,0.0:0,0:0,0:22,81:129,70:18,0:NM_001112808.2(FPGT-TNNI3K) c.1971-184T>C,-:0.61,-:NOT_FOUND,- 1 74836077 . G . . NT END=74881990;NT GT ./. 1 74836228 rs3765667 T A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.9147,A/0.08526;PC=0.035;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.2114+152T>A;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.2114+152T>A;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.1772+152T>A;VC=Intron;DM=FPGT-TNNI3K/Pkinase_Tyr;DM=TNNI3K/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:14:0:0:0:6,1,7:199,17,213:18.85,0.83,0.00:0.00,0.00,0.00:18.85,0.83,0.00:0.96,0.00,0.00:0.00,0.00,0.00:0.96,0.00,0.00:60,60,60:43.5,52.0,8.7:0,0,0:0,0,0:120,131,105:31,19,46:14,0,24:NM_001112808.2(FPGT-TNNI3K) c.2075+152T>A,-:0.08,-:NOT_FOUND,- 1 74882238 . t . . NT END=74901763;NT GT ./. 1 74882380 rs6703217 C G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3822,G/0.6178;PC=0.773;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.2115-19384C>G;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.2115-19384C>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.1773-19384C>G;VC=Intron;DM=FPGT-TNNI3K/Pkinase_Tyr;DM=TNNI3K/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:0:0:0:10,6:334,201:0.00,18.37:0.00,0.00:0.00,18.37:0.00,0.95:0.00,0.00:0.00,0.95:60,60:0.0,45.0:0,0:0,0:112,93:38,57:15,33:-,NM_001112808.2(FPGT-TNNI3K) c.2076-19384C>G:-,0.65:-,NOT_FOUND 1 74901739 rs67642732 CT C 47 idl,rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=CT/0.4597,C/0.5403;DB;DBA=NA;PAF=CT/0.4597,C/0.5403;NP=13;PC=0.005;Gene=FPGT-TNNI3K/NM_001199327.1/0;CC=c.2115-5delT;VC=Intron;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.2115-5delT;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.1773-5delT;VC=Intron;DM=FPGT-TNNI3K/Pkinase_Tyr;DM=TNNI3K/Pkinase_Tyr;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:37:42:5:30:17,4,16:523,157,917:0.00,9.29,47.11:0.00,2.34,27.03:0.00,6.95,20.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:48.8,43.2,38.6:0,1,13:0,0,0:70,34,50:81,117,89:43,23,25:-,NM_001112808.2(FPGT-TNNI3K) c.2076-24delT:-,NOT_FOUND:-,NOT_FOUND 1 74901817 . G . . NT END=74902157;NT GT ./. 1 74902211 . G . . NT END=74905173;NT GT ./. 1 74905307 . G . . NT END=74929124;NT GT ./. 1 74929235 . G . . NT END=74930318;NT GT ./. 1 74930610 . T . . NT END=74954872;NT GT ./. 1 74940800 rs3058791 CCA C 12 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.2463+11607_2463+11608delCA;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.2121+11607_2121+11608delCA;VC=Intron;DM=FPGT-TNNI3K/Pkinase_Tyr;DM=TNNI3K/Pkinase_Tyr;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:CCA,C:8:6:0:5:4,4:109,160:0.00,12.19:0.00,5.03:0.00,7.16:0.00,0.85:0.00,0.96:0.00,0.98:60,60:17.2,24.5:0,1:0,0:40,44:100,74:18,29:-,NM_001112808.2(FPGT-TNNI3K) c.2424+11567_2424+11568delCA:-,NOT_FOUND:-,NOT_FOUND 1 74954933 . G . . NT END=74957780;NT GT ./. 1 74957951 . G . . NT END=75005917;NT GT ./. 1 75005998 . G . . NT END=75009589;NT GT ./. 1 75006027 rs3895907 A G 144 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.6755,G/0.3245,T/.;PC=0.381;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.2773+30A>G;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.2431+30A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:20:0:0:39:1251:143.60:45.08:98.52:1.00:1.00:1.00:60:47.9:0:0:108:43:20:NM_001112808.2(FPGT-TNNI3K) c.2734+30A>G,NM_001112808.2(FPGT-TNNI3K) c.2734+30A>G:0.33,0.33:0.444641,0.444641 1 75006076 rs3845348 G A 84 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.08367,A/0.9163;Gene=FPGT-TNNI3K/NM_001112808.2/1;CC=c.2773+79G>A;VC=Intron;Gene=TNNI3K/NM_015978.2/1;CC=c.2431+79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:4:0:0:24:731:84.49:7.50:76.98:1.00:1.00:1.00:60:64.0:0:0:97:53:25:NM_001112808.2(FPGT-TNNI3K) c.2734+79G>A,NM_001112808.2(FPGT-TNNI3K) c.2734+79G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 75009667 . C . . NT END=75036800;NT GT ./. 1 75036783 rs9326115 T C 241 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.02496,C/0.975;PC=0.422;Gene=ERICH3/NM_001002912.4/1;CC=c.*18A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:57:0:0:68:2085:240.70:171.25:69.45:1.00:1.00:1.00:60:66.5:0:0:59:79:31:NM_001002912.4(C1orf173) c.*18A>G,NM_001002912.4(C1orf173) c.*18A>G:0.98,0.98:0.97232,0.97232 1 75036812 rs9326116 C T 279 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.02516,T/0.9748;Gene=ERICH3/NM_001002912.4/1;CC=c.4582G>A;ProtCh=p.V1528M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:75:60:0:0:75:2430:278.65:179.40:99.26:1.00:1.00:1.00:60:64.3:0:0:69:74:37:NM_001002912.4(C1orf173) c.4582G>A (p.Val1528Met),NM_001002912.4(C1orf173) c.4582G>A (p.Val1528Met):0.98,0.98:0.972244,0.972244 1 75039176 . C . . NT END=75042578;NT GT ./. 1 75042621 . C . . NT END=75045087;NT GT ./. 1 75042626 . TA T 10 sb;idl,rn VT=DEL;SST=Single;DP=30;NP=47;PC=0.003;Gene=ERICH3/NM_001002912.4/1;CC=c.2177-7delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:TA,I,T:27:22:3:6:21,2,4:578,90,183:0.00,3.88,9.52:0.00,2.07,7.58:0.00,1.81,1.94:0.00,0.00,0.64:0.00,0.00,0.90:0.00,0.00,0.90:60,60,60:16.5,47.0,21.2:0,1,2:0,0,0:98,101,58:37,50,65:32,17,23:-,NM_001002912.4(C1orf173) c.2177-7delT:-,NOT_FOUND:-,NOT_FOUND 1 75045594 . C . . NT END=75052067;NT GT ./. 1 75045729 rs10890136 C A 78 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6849,A/0.3151;Gene=ERICH3/NM_001002912.4/1;CC=c.2177-3109G>T;VC=Intron;Gene=ERICH3-AS1/NR_121671.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:0:0:0:23:668:77.75:0.00:77.75:1.00:0.00:1.00:60:44.5:0:0:97:53:30:NM_001002912.4(C1orf173) c.2177-3109G>T,NM_001002912.4(C1orf173) c.2177-3109G>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 75052204 . A . . NT END=75055314;NT GT ./. 1 75055765 . C . . NT END=75065378;NT GT ./. 1 75065616 . C . . NT END=75072284;NT GT ./. 1 75072264 rs41289216 G T 132 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6837,T/0.3163;Gene=ERICH3/NM_001002912.4/1;CC=c.1489+21C>A;VC=Intron;Gene=ERICH3-AS1/NR_121671.1/0;VC=NonCoding;Gene=ERICH3-AS1/NR_121670.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:35:0:0:36:1145:131.63:122.14:9.49:1.00:1.00:1.00:60:39.0:0:0:54:96:25:NM_001002912.4(C1orf173) c.1489+21C>A,NM_001002912.4(C1orf173) c.1489+21C>A:0.33,0.33:0.433108,0.433108 1 75072587 . C . . NT END=75078306;NT GT ./. 1 75078494 . C . . NT END=75086417;NT GT ./. 1 75086599 . C . . NT END=75097396;NT GT ./. 1 75086665 rs10493546 T C 90 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6174,C/0.3826;PC=0.001;Gene=ERICH3/NM_001002912.4/1;CC=c.820-67A>G;VC=Intron;Gene=ERICH3-AS1/NR_121671.1/0;VC=NonCoding;Gene=ERICH3-AS1/NR_121670.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:C:26:12:0:0:26:781:90.27:26.89:63.39:1.00:1.00:1.00:60:32.5:0:0:105:38:20:NM_001002912.4(C1orf173) c.820-67A>G,NM_001002912.4(C1orf173) c.820-67A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 1 75097336 rs554465586 A G 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=12;PC=0.009;Gene=ERICH3/NM_001002912.4/1;CC=c.819+61T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,G:13:13:0:0:5,8:120,277:0.00,27.80:0.00,28.01:0.00,-0.21:0.00,1.00:0.00,1.00:0.00,0.74:60,60:38.2,52.1:0,0:0,0:51,71:100,80:36,18:-,NM_001002912.4(C1orf173) c.819+61T>C:-,NOT_FOUND:-,NOT_FOUND 1 75097426 rs11210490 G C 130 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.6791,C/0.3209;PC=1.000;Gene=ERICH3/NM_001002912.4/1;CC=c.790C>G;ProtCh=p.P264A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A,C,G:37:32:0:0:1,35,1:11,1158,35:0.27,130.30,0.00:0.28,96.12,0.00:-0.01,34.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:137.0,43.1,0.0:0,0,0:0,0,0:10,38,68:141,109,83:0,22,0:NM_001002912.4(C1orf173) c.790C>G (p.Pro264Ala),NM_001002912.4(C1orf173) c.790C>G (p.Pro264Ala):0.34,0.34:0.455021,0.455021 1 75097613 . C . . NT END=75101963;NT GT ./. 1 75102123 . C . . NT END=75107014;NT GT ./. 1 75107144 . C . . NT END=75108710;NT GT ./. 1 75108783 . C . . NT END=75112350;NT GT ./. 1 75108863 rs623171 A C 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3255,C/0.6745;Gene=ERICH3/NM_001002912.4/1;CC=c.244-81T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:6:0:0:13:400:46.19:17.00:29.20:1.00:1.00:1.00:60:31.2:0:0:132:18:18:NM_001002912.4(C1orf173) c.244-81T>G,NM_001002912.4(C1orf173) c.244-81T>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 75112477 . C . . NT END=75114905;NT GT ./. 1 75112573 rs61776661 G GACACAC 9 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=42;NP=6;Gene=ERICH3/NM_001002912.4/1;CC=c.118-98_118-97insGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G,GACACAC:10:1:3:0:1,6,3:10,181,101:0.28,0.00,9.03:-0.05,0.00,-0.16:0.33,0.00,9.19:0.00,0.00,0.62:0.00,0.00,0.53:0.00,0.00,0.94:60,60,60:52.0,13.0,7.0:0,0,0:0,0,0:78,139,101:73,11,49:0,6,2:-,NM_001002912.4(C1orf173) c.118-98_118-97insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 75115000 . C . . NT END=75139180;NT GT ./. 1 75139204 . T . . NT END=75171979;NT GT ./. 1 75168647 rs556215627 T C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:5:2:0:0:3,2:93,66:9.27,0.00:3.30,0.00:5.96,0.00:0.78,0.00:0.87,0.00:0.78,0.00:60,60:31.0,45.5:0,0:0,0:52,70:96,74:1,65:chr1 g.75168646T>C (intergenic),-:0.26,-:NOT_FOUND,- 1 75171751 rs17459 T C 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3946,C/0.6054;Gene=CRYZ/NM_001130042.1/1;CC=c.*229A>G;VC=3UTR;Gene=CRYZ/NM_001130043.1/0;CC=c.*229A>G;VC=3UTR;Gene=CRYZ/NM_001134759.1/0;CC=c.*229A>G;VC=3UTR;Gene=CRYZ/NM_001889.3/0;CC=c.*229A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,T:8:8:0:0:3,5:90,134:8.14,0.00:8.14,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:63.0,52.0:0,0:0,0:14,62:136,89:10,26:NM_001130042.1(CRYZ) c.*229A>G,-:0.62,-:NOT_FOUND,- 1 75172001 rs7527057 T A 112 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.7835,A/0.2165;PC=0.392;Gene=CRYZ/NM_001130042.1/1;CC=c.969A>T;ProtCh=p.G323=;VC=Silent;Gene=CRYZ/NM_001130043.1/0;CC=c.867A>T;ProtCh=p.G289=;VC=Silent;Gene=CRYZ/NM_001134759.1/0;CC=c.558A>T;ProtCh=p.G186=;VC=Silent;Gene=CRYZ/NM_001889.3/0;CC=c.969A>T;ProtCh=p.G323=;VC=Silent;DM=CRYZ/ADH_zinc_N_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:65:54:0:0:36,29:1146,936:112.33,0.00:75.31,0.00:37.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.4,9.4:0,0:0,0:60,64:85,86:25,37:NM_001130042.1(CRYZ) c.969A>T (p.(=)),-:0.26,-:0.341126,- 1 75172142 . C . . NT END=75172582;NT GT ./. 1 75172620 rs148239081 G A 58 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=5;PC=0.613;Gene=CRYZ/NM_001130042.1/1;CC=c.791C>T;ProtCh=p.S264L;VC=Missense;Gene=CRYZ/NM_001130043.1/0;CC=c.689C>T;ProtCh=p.S230L;VC=Missense;Gene=CRYZ/NM_001134759.1/0;CC=c.380C>T;ProtCh=p.S127L;VC=Missense;Gene=CRYZ/NM_001889.3/0;CC=c.791C>T;ProtCh=p.S264L;VC=Missense;DM=CRYZ/ADH_zinc_N_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:29:0:0:19,20:610,583:58.33,0.00:41.12,0.00:17.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,7.8:0,0:0,0:50,53:99,88:34,23:NM_001130042.1(CRYZ) c.791C>T (p.Ser264Leu),-:0.0009,-:0.001307,- 1 75172679 . C . . NT END=75172786;NT GT ./. 1 75172756 rs71695861 TAA T 62 idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=76;Gene=CRYZ/NM_001130042.1/1;CC=c.732+29_732+30delTT;VC=Intron;Gene=CRYZ/NM_001130043.1/0;CC=c.631-80_631-79delTT;VC=Intron;Gene=CRYZ/NM_001134759.1/0;CC=c.321+29_321+30delTT;VC=Intron;Gene=CRYZ/NM_001889.3/0;CC=c.732+29_732+30delTT;VC=Intron;DM=CRYZ/ADH_zinc_N_2;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TAA,I,T:35:25:3:26:1,11,3,20:10,331,89,792:0.09,0.00,6.57,61.60:-0.07,0.00,5.07,35.71:0.16,0.00,1.50,25.89:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:30.0,37.5,33.0,21.9:0,0,0,6:0,0,0,0:41,56,84,84:96,95,67,66:0,33,4,30:-,NM_001130042.1(CRYZ) c.732+29_732+30delTT:-,NOT_FOUND:-,NOT_FOUND 1 75172889 . C . . NT END=75175781;NT GT ./. 1 75173051 rs4650281 C T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3948,T/0.6052;PC=0.042;Gene=CRYZ/NM_001130042.1/1;CC=c.631-163G>A;VC=Intron;Gene=CRYZ/NM_001130043.1/0;CC=c.631-373G>A;VC=Intron;Gene=CRYZ/NM_001134759.1/0;CC=c.220-163G>A;VC=Intron;Gene=CRYZ/NM_001889.3/0;CC=c.631-163G>A;VC=Intron;DM=CRYZ/ADH_zinc_N_2;DM=CRYZ/ADH_zinc_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,T:6:0:0:0:2,4:58,115:0.00,11.73:0.00,0.00:0.00,11.73:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,38.2:0,0:0,0:51,101:100,50:10,33:-,NM_001130042.1(CRYZ) c.631-163G>A:-,0.62:-,NOT_FOUND 1 75175932 . C . . NT END=75180262;NT GT ./. 1 75180315 . C . . NT END=75184892;NT GT ./. 1 75185057 . C . . NT END=75188801;NT GT ./. 1 75188955 . C . . NT END=75190394;NT GT ./. 1 75190452 rs1051122 C T 77 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.2264,T/0.7736;PC=0.996;Gene=CRYZ/NM_001130042.1/1;CC=c.54G>A;ProtCh=p.G18=;VC=Silent;Gene=CRYZ/NM_001130043.1/0;CC=c.54G>A;ProtCh=p.G18=;VC=Silent;Gene=CRYZ/NM_001134759.1/0;CC=c.-136-1498G>A;VC=Intron;Gene=CRYZ/NM_001889.3/0;CC=c.54G>A;ProtCh=p.G18=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:40:0:0:31,26:1000,812:0.00,76.55:0.00,47.94:0.00,28.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,39.3:0,0:0,0:85,60:64,88:24,27:-,NM_001130042.1(CRYZ) c.54G>A (p.(=)):-,0.78:-,0.766877 1 75190506 . G . . NT END=75198928;NT GT ./. 1 75198740 rs2345436 A C 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.2963,C/0.7037;PC=0.532;Gene=CRYZ/NM_001130042.1/1;CC=c.-153T>G;VC=5UTR;Gene=CRYZ/NM_001130043.1/0;CC=c.-114T>G;VC=5UTR;Gene=CRYZ/NM_001134759.1/0;CC=c.-237T>G;VC=5UTR;Gene=CRYZ/NM_001889.3/0;CC=c.-114T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:36:36:0:0:15,21:438,658:0.00,65.12:0.00,65.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:42.0,73.2:0,0:0,0:55,64:96,86:39,52:-,NM_001130042.1(CRYZ) c.-153T>G:-,0.72:-,NOT_FOUND 1 75198763 rs277372 A C 135 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.003994,C/0.996,T/.;Gene=CRYZ/NM_001130042.1/1;CC=c.-176T>G;VC=5UTR;Gene=CRYZ/NM_001130043.1/0;CC=c.-137T>G;VC=5UTR;Gene=CRYZ/NM_001134759.1/0;CC=c.-260T>G;VC=5UTR;Gene=CRYZ/NM_001889.3/0;CC=c.-137T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:C:38:38:0:0:38:1168:134.75:134.75:0.00:1.00:1.00:0.00:60:58.8:0:0:69:81:38:NM_001130042.1(CRYZ) c.-176T>G,NM_001130042.1(CRYZ) c.-176T>G:1,1:NOT_FOUND,NOT_FOUND 1 75199152 rs277373 C T 545 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=150;DB;DBA=NA;PAF=C/0.003994,T/0.996;Gene=TYW3/NM_001162916.1/0;CC=c.174+50C>T;VC=Intron;Gene=TYW3/NM_138467.2/1;CC=c.174+50C>T;VC=Intron;Gene=TYW3/NR_027962.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:150:66:0:0:150:4735:544.81:182.13:362.68:1.00:1.00:1.00:60:40.1:0:0:94:54:36:NM_138467.2(TYW3) c.174+50C>T,NM_138467.2(TYW3) c.174+50C>T:1,1:0.995694,0.995694 1 75199216 . G . . NT END=75202225;NT GT ./. 1 75199299 rs28568334 C G 100 nt VT=SNV;PN=G;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.2965,G/0.7035;Gene=TYW3/NM_001162916.1/0;CC=c.174+197C>G;VC=Intron;Gene=TYW3/NM_138467.2/1;CC=c.174+197C>G;VC=Intron;Gene=TYW3/NR_027962.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:6:0:0:17,30:518,989:0.00,99.89:0.00,7.02:0.00,92.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.9,41.5:0,0:0,0:102,108:47,41:35,25:-,NM_138467.2(TYW3) c.174+197C>G:-,0.72:-,NOT_FOUND 1 75199484 rs28640981 G A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7985,A/0.2015;Gene=TYW3/NM_001162916.1/0;CC=c.174+382G>A;VC=Intron;Gene=TYW3/NM_138467.2/1;CC=c.174+382G>A;VC=Intron;Gene=TYW3/NR_027962.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:7:0:0:0:4,3:137,91:13.53,0.00:0.00,0.00:13.53,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:37.2,15.0:0,0:0,0:128,131:22,18:13,17:NM_138467.2(TYW3) c.174+382G>A,-:0.25,-:NOT_FOUND,- 1 75202307 . G . . NT END=75204373;NT GT ./. 1 75204143 rs277375 G A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7776,A/0.2224;PC=0.001;Gene=TYW3/NM_001162916.1/0;CC=c.255+1837G>A;VC=Intron;Gene=TYW3/NM_138467.2/1;CC=c.256-231G>A;VC=Intron;Gene=TYW3/NR_027962.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:8:8:0:0:5,3:167,102:16.79,0.00:16.79,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:37.6,0.0:0,0:0,0:66,49:84,101:12,33:NM_138467.2(TYW3) c.256-231G>A,-:0.21,-:NOT_FOUND,- 1 75204473 . G . . NT END=75214434;NT GT ./. 1 75214193 rs2345438 G T 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7985,T/0.2015;PC=0.001;Gene=TYW3/NM_001162916.1/0;CC=c.256-242G>T;VC=Intron;Gene=TYW3/NM_138467.2/1;CC=c.355-242G>T;VC=Intron;Gene=TYW3/NR_027962.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,T:7:7:0:0:2,5:71,160:0.00,16.57:0.00,16.57:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,33.6:0,0:0,0:46,27:104,123:22,10:-,NM_138467.2(TYW3) c.355-242G>T:-,0.25:-,NOT_FOUND 1 75214390 rs749690 G C 72 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.7732,C/0.2268,T/.;Gene=TYW3/NM_001162916.1/0;CC=c.256-45G>C;VC=Intron;Gene=TYW3/NM_138467.2/1;CC=c.355-45G>C;VC=Intron;Gene=TYW3/NR_027962.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:42:36:0:0:22,20:741,652:71.98,0.00:47.54,0.00:24.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,7.7:0,0:0,0:42,41:106,100:19,24:NM_138467.2(TYW3) c.355-45G>C,-:0.28,-:0.422036,- 1 75214507 . G . . NT END=75217975;NT GT ./. 1 75217752 rs11485298 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3446,T/0.6554;Gene=TYW3/NM_001162916.1/0;CC=c.328-224C>T;VC=Intron;Gene=TYW3/NM_138467.2/1;CC=c.427-224C>T;VC=Intron;Gene=TYW3/NR_027962.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,T:8:8:0:0:2,6:46,159:0.00,16.79:0.00,16.79:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.5,36.3:0,0:0,0:75,27:75,123:61,9:-,NM_138467.2(TYW3) c.427-224C>T:-,0.68:-,NOT_FOUND 1 75218110 . G . . NT END=75229577;NT GT ./. 1 75229798 . G . . NT END=75596399;NT GT ./. 1 75596418 . G . . NT END=75600566;NT GT ./. 1 75598441 . AAC A,AACACACAC 7 idl,nt VT=INS;SST=Single;DP=6;NP=25;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:AAC,AACACACAC,A:4:3:4:1:1,2,1:33,120,34:0.00,6.62,3.02:0.00,1.70,3.10:0.00,4.92,-0.08:0.00,0.42,0.00:0.00,0.73,0.00:0.00,0.81,0.00:60,60,60:32.0,113.5,0.0:0,2,0:0,0,0:119,75,80:32,70,71:0,11,0:NM_001001933.1(LHX8) c.18+2025_18+2026delAC,NM_001001933.1(LHX8) c.18+2025AC[4]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 75598474 rs12132609 T A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8646,A/0.1354;Gene=LHX8/NM_001001933.1/1;CC=c.18+2057T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,T:6:4:0:0:4,2:117,67:11.92,0.00:3.37,0.00:8.55,0.00:0.93,0.00:0.99,0.00:0.93,0.00:60,60:57.0,0.0:0,0:0,0:112,103:31,29:11,8:NM_001001933.1(LHX8) c.18+2057T>A,-:0.17,-:NOT_FOUND,- 1 75600506 rs573838164 AT A,ATTT 27 idl,nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.894 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:200:AT,ATTT,A:21:22:12:9:3,9,9:85,366,271:0.00,26.55,26.95:0.00,26.60,17.25:0.00,-0.05,9.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.93:60,60,60:110.3,32.6,17.1:1,3,0:0,0,0:86,40,48:64,110,102:54,33,16:NM_001001933.1(LHX8) c.19-1781delT,NM_001001933.1(LHX8) c.19-1781T[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 75600640 . G . . NT END=75602287;NT GT ./. 1 75602375 . G . . NT END=75602784;NT GT ./. 1 75602384 rs71500673 G T 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.8726,T/0.1274;PC=0.931;Gene=LHX8/NM_001001933.1/1;CC=c.105+10G>T;VC=Intron;Gene=LHX8/NM_001256114.1/0;CC=c.75+10G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:59:33:0:0:34,25:1138,765:0.00,70.94:0.00,27.89:0.00,43.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,43.4:0,0:0,0:73,87:75,51:31,27:-,NM_001001933.1(LHX8) c.105+10G>T:-,0.15:-,0.19292 1 75602947 . G . . NT END=75606669;NT GT ./. 1 75603055 rs1526503 A G 74 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2262;Gene=LHX8/NM_001001933.1/1;CC=c.267+109A>G;VC=Intron;Gene=LHX8/NM_001256114.1/0;CC=c.237+109A>G;VC=Intron;DM=LHX8/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:2:0:0:20:643:73.80:5.87:67.94:1.00:1.00:1.00:60:47.0:0:0:115:35:17:NM_001001933.1(LHX8) c.267+109A>G,NM_001001933.1(LHX8) c.267+109A>G:1,1:NOT_FOUND,NOT_FOUND 1 75603101 rs6695423 A G 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.862,G/0.138;Gene=LHX8/NM_001001933.1/1;CC=c.267+155A>G;VC=Intron;Gene=LHX8/NM_001256114.1/0;CC=c.237+155A>G;VC=Intron;DM=LHX8/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:13:1:0:0:5,8:132,267:0.00,26.77:0.00,1.83:0.00,24.94:0.00,1.00:0.00,0.74:0.00,1.00:60,60:27.6,72.2:0,0:0,0:122,64:29,86:25,47:-,NM_001001933.1(LHX8) c.267+155A>G:-,0.16:-,NOT_FOUND 1 75603207 rs6681258 G T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.862,T/0.138;Gene=LHX8/NM_001001933.1/1;CC=c.267+261G>T;VC=Intron;Gene=LHX8/NM_001256114.1/0;CC=c.237+261G>T;VC=Intron;DM=LHX8/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:G,T:6:0:0:0:1,5:32,139:0.00,15.09:0.00,0.00:0.00,15.09:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,102.0:0,0:0,0:146,123:4,28:0,16:-,NM_001001933.1(LHX8) c.267+261G>T:-,0.16:-,NOT_FOUND 1 75606405 rs141461871 G C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9984,C/0.001597;NP=8;Gene=LHX8/NM_001001933.1/1;CC=c.268-265G>C;VC=Intron;Gene=LHX8/NM_001256114.1/0;CC=c.238-265G>C;VC=Intron;DM=LHX8/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:5:5:0:0:4,1:118,36:12.61,0.00:12.61,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:29.5,0.0:0,0:0,0:43,55:106,92:28,0:NM_001001933.1(LHX8) c.268-265G>C,-:0.0032,-:NOT_FOUND,- 1 75606792 . G . . NT END=75608802;NT GT ./. 1 75609024 . G . . NT END=75609529;NT GT ./. 1 75609634 . G . . NT END=75614271;NT GT ./. 1 75614368 . G . . NT END=75622577;NT GT ./. 1 75614380 rs566887341 CT C 54 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1278;PC=0.843;Gene=LHX8/NM_001001933.1/1;CC=c.810+27delT;VC=Intron;Gene=LHX8/NM_001256114.1/0;CC=c.780+27delT;VC=Intron;DM=LHX8/Homeobox;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:31:17:1:20:12,1,18:400,23,577:0.00,1.12,54.07:0.00,-0.07,18.32:0.00,1.19,35.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.2,117.0,26.1:0,0,1:0,0,0:139,43,87:8,108,62:7,0,24:-,NM_001001933.1(LHX8) c.810+14delT:-,NOT_FOUND:-,NOT_FOUND 1 75622762 . G . . NT END=75626503;NT GT ./. 1 75626420 rs2462955 A T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.0611,T/0.9389;PC=0.001;Gene=LHX8/NM_001001933.1/1;CC=c.995-84A>T;VC=Intron;Gene=LHX8/NM_001256114.1/0;CC=c.965-84A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,T:9:8:0:0:5,4:146,119:0.00,11.13:0.00,11.64:0.00,-0.51:0.00,0.85:0.00,0.98:0.00,0.84:60,60:0.0,66.8:0,0:0,0:17,13:133,137:7,4:-,NM_001001933.1(LHX8) c.995-84A>T:-,0.94:-,NOT_FOUND 1 75626581 . T . . NT END=75672291;NT GT ./. 1 75672376 rs1948874 A G 70 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.5593,G/0.4407;PC=0.225;Gene=SLC44A5/NM_001130058.1/1;CC=c.2048-2858T>C;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.2076T>C;ProtCh=p.S692=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:22:0:0:14,22:461,701:0.00,70.13:0.00,27.17:0.00,42.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,40.0:0,0:0,0:56,95:71,55:23,22:-,NM_152697.4(SLC44A5) c.2076T>C (p.(=)):-,0.48:-,0.319852 1 75672405 . C . . NT END=75677152;NT GT ./. 1 75677238 . C . . NT END=75679389;NT GT ./. 1 75679479 . C . . NT END=75679603;NT GT ./. 1 75679569 rs71697809 C CT 20 rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8039,CT/0.1124,CTT/0.08367,CTTT/.;NP=102;NP=294;Gene=SLC44A5/NM_001130058.1/1;CC=c.1873+34dupA;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.1873+34dupA;VC=Intron;DM=SLC44A5/Choline_transpo;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:42:23:9:1:32,9,1:1081,254,33:0.00,20.33,1.82:0.00,6.42,0.94:0.00,13.91,0.88:0.00,0.99,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:12.4,10.4,0.0:0,0,0:0,0,0:57,55,109:82,95,42:34,21,0:-,NM_152697.4(SLC44A5) c.1873+34_1873+35insA:-,NOT_FOUND:-,NOT_FOUND 1 75679675 . C . . NT END=75680289;NT GT ./. 1 75680364 . C . . NT END=75681438;NT GT ./. 1 75680571 rs75230952 G A 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9513,A/0.04872;Gene=SLC44A5/NM_001130058.1/1;CC=c.1729-208C>T;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.1729-208C>T;VC=Intron;DM=SLC44A5/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:0:0:0:3,2:98,69:9.77,0.00:0.00,0.00:9.77,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:32.7,83.5:0,0:0,0:108,104:43,46:16,36:NM_152697.4(SLC44A5) c.1729-208C>T,-:0.04,-:NOT_FOUND,- 1 75681511 rs595009 T C 98 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.1034,C/0.8966;PC=0.045;Gene=SLC44A5/NM_001130058.1/1;CC=c.1656A>G;ProtCh=p.Q552=;VC=Silent;Gene=SLC44A5/NM_152697.4/0;CC=c.1656A>G;ProtCh=p.Q552=;VC=Silent;DM=SLC44A5/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:20:0:0:27:852:97.93:55.64:42.29:1.00:1.00:1.00:60:40.7:0:0:78:61:28:NM_152697.4(SLC44A5) c.1656A>G (p.(=)),NM_152697.4(SLC44A5) c.1656A>G (p.(=)):0.89,0.89:0.8492,0.8492 1 75681543 . C . . NT END=75683550;NT GT ./. 1 75683646 . C . . NT END=75684174;NT GT ./. 1 75684438 . C . . NT END=75684941;NT GT ./. 1 75684529 rs610159 A G 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.08466,G/0.9153;Gene=SLC44A5/NM_001130058.1/1;CC=c.1267-92T>C;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.1267-92T>C;VC=Intron;DM=SLC44A5/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:4:0:0:21:695:79.51:9.39:70.12:1.00:1.00:1.00:60:40.4:0:0:114:37:29:NM_152697.4(SLC44A5) c.1267-92T>C,NM_152697.4(SLC44A5) c.1267-92T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 75685030 . C . . NT END=75685484;NT GT ./. 1 75685578 . C . . NT END=75688045;NT GT ./. 1 75685643 rs12042874 T C 71 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4922,C/0.5078;PC=0.033;Gene=SLC44A5/NM_001130058.1/1;CC=c.1086-66A>G;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.1086-66A>G;VC=Intron;DM=SLC44A5/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:7:0:0:19:619:70.94:21.52:49.42:1.00:1.00:1.00:60:35.0:0:0:114:36:19:NM_152697.4(SLC44A5) c.1086-66A>G,NM_152697.4(SLC44A5) c.1086-66A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 75688146 . C . . NT END=75693410;NT GT ./. 1 75693543 . C . . NT END=75699670;NT GT ./. 1 75699646 rs10493564 T C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.7664,C/0.2336;Gene=SLC44A5/NM_001130058.1/1;CC=c.853+25A>G;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.853+25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:27:0:0:9,18:293,578:26.13,0.00:22.81,0.00:3.32,0.00:0.99,0.00:0.99,0.00:0.81,0.00:60,60:41.8,10.1:0,0:0,0:48,35:102,115:13,18:NM_152697.4(SLC44A5) c.853+25A>G,-:0.23,-:0.296786,- 1 75699771 rs10493565 A G 37 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.7664,G/0.2336;PC=0.046;Gene=SLC44A5/NM_001130058.1/1;CC=c.753T>C;ProtCh=p.I251=;VC=Silent;Gene=SLC44A5/NM_152697.4/0;CC=c.753T>C;ProtCh=p.I251=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:29:0:0:30,13:1020,422:0.00,36.96:0.00,14.05:0.00,22.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,63.5:0,0:0,0:103,75:47,70:17,9:-,NM_152697.4(SLC44A5) c.753T>C (p.(=)):-,0.23:-,0.296709 1 75699784 . C . . NT END=75702671;NT GT ./. 1 75699831 rs10493566 G A 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.7664,A/0.2336;Gene=SLC44A5/NM_001130058.1/1;CC=c.741-48C>T;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.741-48C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:9:0:0:10,22:315,718:27.64,0.00:5.77,0.00:21.87,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:68.6,12.1:0,0:0,0:133,100:17,47:7,38:NM_152697.4(SLC44A5) c.741-48C>T,-:0.23,-:0.295954,- 1 75699932 rs78968114 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7664,A/0.2336;Gene=SLC44A5/NM_001130058.1/1;CC=c.741-149C>T;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.741-149C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,G:15:0:0:0:5,10:168,327:15.04,0.00:0.00,0.00:15.04,0.00:0.89,0.00:0.00,0.00:0.89,0.00:60,60:48.2,19.0:0,0:0,0:27,116:122,34:11,19:NM_152697.4(SLC44A5) c.741-149C>T,-:0.23,-:NOT_FOUND,- 1 75702756 . C . . NT END=75704197;NT GT ./. 1 75704070 rs147152873 CATATATATATATAT C 18 idl,nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=78;PC=0.006;Gene=SLC44A5/NM_001130058.1/1;CC=c.656+114_656+127delATATATATATATAT;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.656+114_656+127delATATATATATATAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:CATATATATATATAT,C:11:13:0:8:5,6:166,248:0.00,17.70:0.00,19.42:0.00,-1.72:0.00,0.97:0.00,0.97:0.00,0.64:60,60:21.8,11.8:0,2:0,0:130,47:15,89:15,15:-,NM_152697.4(SLC44A5) c.656+114_656+127delATATATATATATAT:-,NOT_FOUND:-,NOT_FOUND 1 75704322 . C . . NT END=75707685;NT GT ./. 1 75707652 rs7556057 C T 74 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.776,T/0.224;PC=0.001;Gene=SLC44A5/NM_001130058.1/1;CC=c.532+34G>A;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.532+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:34:26:0:0:1,11,22:8,352,724:0.02,0.00,73.79:0.06,0.00,42.60:-0.04,0.00,31.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:42.0,9.0,32.9:0,0,0:0,0,0:11,33,43:140,115,102:0,18,24:-,NM_152697.4(SLC44A5) c.532+34G>A:-,0.22:-,0.28656 1 75707747 . C . . NT END=75708570;NT GT ./. 1 75708529 rs1856128 A T 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7829,T/0.2171;PC=0.405;Gene=SLC44A5/NM_001130058.1/1;CC=c.471+42T>A;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.471+42T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:49:42:0:0:29,20:934,618:0.00,56.93:0.00,40.36:0.00,16.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,37.6:0,0:0,0:50,60:100,91:25,22:-,NM_152697.4(SLC44A5) c.471+42T>A:-,0.21:-,0.275104 1 75708697 . C . . NT END=75716894;NT GT ./. 1 75716925 rs588098 C T 75 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.2554,T/0.7446;PC=0.305;Gene=SLC44A5/NM_001130058.1/1;CC=c.315G>A;ProtCh=p.V105=;VC=Silent;Gene=SLC44A5/NM_152697.4/0;CC=c.315G>A;ProtCh=p.V105=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:27:0:0:16,24:524,754:0.00,75.12:0.00,42.30:0.00,32.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.3,41.9:0,0:0,0:96,66:53,76:35,32:-,NM_152697.4(SLC44A5) c.315G>A (p.(=)):-,0.76:-,0.678225 1 75716980 . C . . NT END=75740642;NT GT ./. 1 75732003 rs61250669 T TACACACAC 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9948,TAC/.,TACAC/.,TACACAC/.,TACACACACAACAC/0.005192;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=24;NP=3;NP=6;Gene=SLC44A5/NM_001130058.1/1;CC=c.260+8639_260+8640insGTGTGTGT;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.260+8639_260+8640insGTGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:T,TACACACAC:5:4:4:0:2,3:62,131:0.00,9.73:0.00,2.97:0.00,6.75:0.00,0.73:0.00,0.94:0.00,0.79:60,60:25.0,27.7:0,1:0,0:73,54:68,95:25,3:-,NM_152697.4(SLC44A5) c.260+8639_260+8640insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 75740728 . C . . NT END=75766296;NT GT ./. 1 75740845 rs1144298 A G 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5745,G/0.4255;PC=0.947;Gene=SLC44A5/NM_001130058.1/1;CC=c.176-118T>C;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.176-118T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:22:1:0:0:16,6:511,157:0.00,12.96:0.00,3.21:0.00,9.75:0.00,0.93:0.00,0.52:0.00,0.99:60,60:10.4,45.3:0,0:0,0:118,70:32,81:16,31:-,NM_152697.4(SLC44A5) c.176-118T>C:-,0.48:-,NOT_FOUND 1 75766186 rs623850 G A 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3267,A/0.6733;Gene=SLC44A5/NM_001130058.1/1;CC=c.175+111C>T;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.175+111C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:0:13:427:48.90:48.90:0.00:1.00:1.00:0.00:60:35.5:0:0:54:97:16:NM_152697.4(SLC44A5) c.175+111C>T,NM_152697.4(SLC44A5) c.175+111C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 1 75766371 . C . . NT END=75777299;NT GT ./. 1 75777391 . c . . NT END=75805266;NT GT ./. 1 75805316 . C . . NT END=75862267;NT GT ./. 1 75862307 . C . . NT END=75864039;NT GT ./. 1 75864004 rs6691590 C G 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7392,G/0.2608;PC=0.001;Gene=SLC44A5/NM_001130058.1/1;CC=c.14-1698G>C;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.14-1698G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:34:32:0:0:18,16:621,559:0.00,53.32:0.00,33.78:0.00,19.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,38.9:0,0:0,0:67,32:82,118:37,14:-,NM_152697.4(SLC44A5) c.14-1698G>C:-,0.27:-,NOT_FOUND 1 75864107 . C . . NT END=76007119;NT GT ./. 1 76007202 . C . . NT END=76076724;NT GT ./. 1 76007232 rs211744 C T 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.8143,T/0.1857;PC=0.045;Gene=SLC44A5/NM_001130058.1/1;CC=c.-69-31G>A;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.-69-31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:13:0:0:21,13:688,411:0.00,37.46:0.00,14.43:0.00,23.03:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.3,45.2:0,0:0,0:103,75:47,76:27,30:-,NM_152697.4(SLC44A5) c.-69-31G>A:-,0.17:-,NOT_FOUND 1 76047889 rs145377351 C T 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.9932,T/0.006789;NP=18;PC=1.000;Gene=SLC44A5/NM_001130058.1/1;CC=c.-70+28836G>A;VC=Intron;Gene=SLC44A5/NM_152697.4/0;CC=c.-70+28836G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:26:0:0:16,14:511,470:0.00,44.67:0.00,33.28:0.00,11.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,37.0:0,0:0,0:34,49:111,102:24,27:-,NM_152697.4(SLC44A5) c.-70+28836G>A:-,0.01:-,NOT_FOUND 1 76076800 . G . . NT END=76081537;NT GT ./. 1 76081572 . C . . NT END=76190472;NT GT ./. 1 76190503 . G . . NT END=76194073;NT GT ./. 1 76190569 rs1251075 C G 88 nt VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.6813,G/0.3187;Gene=ACADM/NM_000016.5/0;CC=c.30+67C>G;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.30+67C>G;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.10+67C>G;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.30+67C>G;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-268+67C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:60:28:0:0:1,30,29:10,877,922:-0.06,0.00,88.32:-0.05,0.00,31.52:-0.01,0.00,56.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.0,15.8,42.9:0,0,0:0,0,0:26,110,93:125,40,47:0,26,32:-,NM_000016.4(ACADM) c.30+67C>G:-,0.32:-,0.39597 1 76194054 rs7524467 C G 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8171,G/0.1829;PC=0.001;Gene=ACADM/NM_000016.5/0;CC=c.31-32C>G;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.31-20C>G;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.10+3552C>G;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.31-32C>G;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-268+3552C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,G:13:12:0:0:4,9:137,303:0.00,31.11:0.00,24.88:0.00,6.23:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,38.7:0,0:0,0:98,50:53,100:14,20:-,NM_000016.4(ACADM) c.31-32C>G:-,0.2:-,0.253498 1 76194174 . G . . NT END=76198328;NT GT ./. 1 76194229 rs11316888 GT G 49 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=3419;PC=0.001;Gene=ACADM/NM_000016.5/0;CC=c.118+60delT;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.130+60delT;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.10+3731delT;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.118+60delT;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-268+3731delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:2:0:13:13:427:48.90:3.83:45.07:1.00:1.00:1.00:60:21.9:0:0:89:62:36:NM_000016.4(ACADM) c.118+57delT,NM_000016.4(ACADM) c.118+57delT:0.97,0.97:NOT_FOUND,NOT_FOUND 1 76194306 rs1146572 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.104,G/0.896;Gene=ACADM/NM_000016.5/0;CC=c.118+133A>G;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.130+133A>G;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.10+3804A>G;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.118+133A>G;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-268+3804A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:162:18.58:0.00:18.58:1.00:0.00:1.00:60:54.8:0:0:120:31:15:NM_000016.4(ACADM) c.118+133A>G,NM_000016.4(ACADM) c.118+133A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 76198431 . G . . NT END=76198537;NT GT ./. 1 76198436 rs2275378 T C 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=in-clinvar;PAF=T/0.7688,C/0.2312;Gene=ACADM/NM_000016.5/0;CC=c.216+10T>C;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.228+10T>C;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.108+10T>C;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.216+10T>C;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-170+10T>C;VC=Intron;DM=ACADM/Acyl-CoA_dh_N;DM=ACADM/Acyl-CoA_dh_N;DM=ACADM/Acyl-CoA_dh_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:23:0:0:26,18:833,575:82.74,0.00:47.28,0.00:35.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,6.4:0,0:0,0:107,112:43,35:39,21:NM_000016.4(ACADM) c.216+10T>C,-:0.24,-:0.317595,- 1 76198608 . G . . NT END=76199212;NT GT ./. 1 76199314 . G . . NT END=76200475;NT GT ./. 1 76199345 rs2153126 C G 83 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.769,G/0.231;Gene=ACADM/NM_000016.5/0;CC=c.387+32C>G;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.399+32C>G;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.279+32C>G;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.486+32C>G;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-100+738C>G;VC=Intron;DM=ACADM/Acyl-CoA_dh_N;DM=ACADM/Acyl-CoA_dh_N;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:35:8:0:0:11,24:353,808:0.00,82.78:0.00,12.14:0.00,70.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.2,43.9:0,0:0,0:139,106:11,39:6,30:-,NM_000016.4(ACADM) c.387+32C>G:-,0.24:-,0.317392 1 76200557 . G . . NT END=76205664;NT GT ./. 1 76200726 rs142842213 C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.991,T/0.008986;NP=10;Gene=ACADM/NM_000016.5/0;CC=c.468+170C>T;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.480+170C>T;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.360+170C>T;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.567+170C>T;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-100+2119C>T;VC=Intron;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,T:5:0:0:0:2,3:50,82:0.00,8.15:0.00,0.00:0.00,8.15:0.00,0.78:0.00,0.00:0.00,0.78:60,60:5.5,35.0:0,0:0,0:43,17:108,134:9,8:-,NM_000016.4(ACADM) c.468+170C>T:-,0.01:-,NOT_FOUND 1 76205643 rs12127402 C A 151 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.8099,A/0.1901;Gene=ACADM/NM_000016.5/0;CC=c.469-22C>A;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.481-22C>A;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.361-22C>A;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.568-22C>A;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.-99-22C>A;VC=Intron;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:41:0:0:42:1307:150.65:120.33:30.32:1.00:1.00:1.00:60:36.7:0:0:51:96:27:NM_000016.4(ACADM) c.469-22C>A,NM_000016.4(ACADM) c.469-22C>A:0.2,0.2:0.25894,0.25894 1 76205796 . G . . NT END=76211490;NT GT ./. 1 76208859 rs397707598 GCT G 28 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GCT/0.3079,G/0.6921;DB;DBA=NA;PAF=GCT/0.3079,G/0.6921;DB;DBA=NA;PAF=NA;NP=227;PC=0.951;Gene=ACADM/NM_000016.5/0;CC=c.600-2622_600-2621delTC;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.612-2622_612-2621delTC;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.492-2622_492-2621delTC;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.699-2622_699-2621delTC;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.33-2622_33-2621delTC;VC=Intron;Gene=DLSTP1/NR_130749.1/0;VC=NonCoding;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:8:8:243:28.10:28.10:0.00:1.00:1.00:0.00:60:15.2:0:0:45:102:25:NM_000016.4(ACADM) c.600-2631_600-2630delCT,NM_000016.4(ACADM) c.600-2631_600-2630delCT:0.67,0.67:NOT_FOUND,NOT_FOUND 1 76209726 rs143676730 G A 109 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9912,A/0.008786;NP=29;PC=1.000;Gene=ACADM/NM_000016.5/0;CC=c.600-1765G>A;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.612-1765G>A;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.492-1765G>A;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.699-1765G>A;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.33-1765G>A;VC=Intron;Gene=DLSTP1/NR_130749.1/0;VC=NonCoding;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:43:0:0:36,34:1130,1129:109.08,0.00:49.45,0.00:59.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.6,54.8:0,0:0,0:61,58:83,91:36,29:NM_000016.4(ACADM) c.600-1765G>A,-:0.01,-:NOT_FOUND,- 1 76209754 rs12123977 G A 246 nt VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.8167,A/0.1833;PC=1.000;Gene=ACADM/NM_000016.5/0;CC=c.600-1737G>A;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.612-1737G>A;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.492-1737G>A;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.699-1737G>A;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.33-1737G>A;VC=Intron;Gene=DLSTP1/NR_130749.1/0;VC=NonCoding;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:A,C:67:41:0:0:66,1:2146,13:245.56,0.26:123.04,0.26:122.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.7,82.0:0,0:0,0:77,136:70,9:32,0:NM_000016.4(ACADM) c.600-1737G>A,NM_000016.4(ACADM) c.600-1737G>A:0.2,0.2:NOT_FOUND,NOT_FOUND 1 76209792 rs1146579 T C 234 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.6825,A/.,C/0.3175,G/.;PC=1.000;Gene=ACADM/NM_000016.5/0;CC=c.600-1699T>C;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.612-1699T>C;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.492-1699T>C;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.699-1699T>C;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.33-1699T>C;VC=Intron;Gene=DLSTP1/NR_130749.1/0;VC=NonCoding;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:C,T:67:42:0:0:66,1:2051,35:234.24,0.00:109.09,0.00:125.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.7,0.0:0,0:0,0:82,13:66,137:37,0:NM_000016.4(ACADM) c.600-1699T>C,NM_000016.4(ACADM) c.600-1699T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 1 76209935 rs1146580 T C 151 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.6815,C/0.3185;PC=0.984;Gene=ACADM/NM_000016.5/0;CC=c.600-1556T>C;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.612-1556T>C;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.492-1556T>C;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.699-1556T>C;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.33-1556T>C;VC=Intron;Gene=DLSTP1/NR_130749.1/0;VC=NonCoding;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:C,G:43:23:0:0:42,1:1314,11:150.87,0.25:67.27,0.00:83.60,0.25:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,123.0:0,0:0,0:77,46:73,90:32,0:NM_000016.4(ACADM) c.600-1556T>C,NM_000016.4(ACADM) c.600-1556T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 1 76210289 rs11161510 C T 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8249,T/0.1751;PC=1.000;Gene=ACADM/NM_000016.5/0;CC=c.600-1202C>T;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.612-1202C>T;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.492-1202C>T;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.699-1202C>T;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.33-1202C>T;VC=Intron;Gene=DLSTP1/NR_130749.1/0;VC=NonCoding;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M;DM=ACADM/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:21:6:0:0:4,17:119,531:0.00,56.75:0.00,12.34:0.00,44.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,44.4:0,0:0,0:124,75:26,69:12,33:-,NM_000016.4(ACADM) c.600-1202C>T:-,0.19:-,NOT_FOUND 1 76211600 . G . . NT END=76215103;NT GT ./. 1 76215245 . G . . NT END=76216135;NT GT ./. 1 76215397 rs552891440 CT C 13 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CT/0.4615,C/0.5385;DB;DBA=NA;PAF=CT/0.4615,C/0.5385;NP=4;PC=0.001;Gene=ACADM/NM_000016.5/0;CC=c.849+172delT;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.861+172delT;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.741+172delT;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.948+172delT;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.282+172delT;VC=Intron;DM=ACADM/Acyl-CoA_dh_1;DM=ACADM/Acyl-CoA_dh_1;DM=ACADM/Acyl-CoA_dh_1;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:CT,C:16:0:0:8:11,5:335,247:0.00,13.03:0.00,0.00:0.00,13.03:0.00,0.86:0.00,0.00:0.00,0.86:60,60:4.7,41.4:0,3:0,0:136,111:15,38:9,4:-,NM_000016.4(ACADM) c.849+154delT:-,NOT_FOUND:-,NOT_FOUND 1 76216232 . G . . NT END=76226806;NT GT ./. 1 76216330 rs11161521 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8257,C/0.1743;PC=0.054;Gene=ACADM/NM_000016.5/0;CC=c.945+99T>C;VC=Intron;Gene=ACADM/NM_001127328.2/1;CC=c.957+99T>C;VC=Intron;Gene=ACADM/NM_001286042.1/0;CC=c.837+99T>C;VC=Intron;Gene=ACADM/NM_001286043.1/0;CC=c.1044+99T>C;VC=Intron;Gene=ACADM/NM_001286044.1/0;CC=c.378+99T>C;VC=Intron;DM=ACADM/Acyl-CoA_dh_1;DM=ACADM/Acyl-CoA_dh_1;DM=ACADM/Acyl-CoA_dh_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:17:0:0:0:5,12:146,376:12.51,0.00:0.00,0.00:12.51,0.00:0.88,0.00:0.00,0.00:0.88,0.00:60,60:33.2,14.7:0,0:0,0:99,120:52,31:30,20:NM_000016.4(ACADM) c.945+99T>C,-:0.19,-:NOT_FOUND,- 1 76227022 rs1061337 A G 77 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=in-clinvar;PAF=A/0.8257,G/0.1743;PC=1.000;Gene=ACADM/NM_000016.5/0;CC=c.1161A>G;ProtCh=p.V387=;VC=Silent;Gene=ACADM/NM_001127328.2/1;CC=c.1173A>G;ProtCh=p.V391=;VC=Silent;Gene=ACADM/NM_001286042.1/0;CC=c.1053A>G;ProtCh=p.V351=;VC=Silent;Gene=ACADM/NM_001286043.1/0;CC=c.1260A>G;ProtCh=p.V420=;VC=Silent;Gene=ACADM/NM_001286044.1/0;CC=c.594A>G;ProtCh=p.V198=;VC=Silent;DM=ACADM/Acyl-CoA_dh_1;DM=ACADM/Acyl-CoA_dh_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:23:0:0:29,26:935,815:0.00,77.39:0.00,21.60:0.00,55.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,41.2:0,0:0,0:66,92:77,56:29,43:-,NM_000016.4(ACADM) c.1161A>G (p.(=)):-,0.19:-,0.249962 1 76227056 . G . . NT END=76228376;NT GT ./. 1 76228449 . A . . NT END=76251956;NT GT ./. 1 76228525 rs143911981 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.991,T/0.008986;NP=16;Gene=ACADM/NM_000016.5/0;CC=c.*77C>T;VC=3UTR;Gene=ACADM/NM_001127328.2/1;CC=c.*77C>T;VC=3UTR;Gene=ACADM/NM_001286042.1/0;CC=c.*77C>T;VC=3UTR;Gene=ACADM/NM_001286043.1/0;CC=c.*77C>T;VC=3UTR;Gene=ACADM/NM_001286044.1/0;CC=c.*77C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:10:1:0:0:5,5:125,164:0.00,15.78:0.00,2.88:0.00,12.91:0.00,0.95:0.00,0.67:0.00,1.00:60,60:12.0,41.6:0,0:0,0:51,131:100,20:13,14:-,NM_000016.4(ACADM) c.*77C>T:-,0.01:-,NOT_FOUND 1 76251746 rs1146632 T C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.507,C/0.493 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:203:23.16:23.16:0.00:1.00:1.00:0.00:60:95.5:0:0:35:115:8:NM_004582.2(RABGGTB) c.-71-u140T>C,NM_004582.2(RABGGTB) c.-71-u140T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 76251831 rs138780251 C A 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9904,A/0.009585;NP=20;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:21:0:0:13,8:436,269:43.74,0.00:44.16,0.00:-0.42,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:60.7,16.0:0,0:0,0:53,33:98,117:17,14:NM_004582.2(RABGGTB) c.-71-u55C>A,-:0.01,-:NOT_FOUND,- 1 76251960 . G . . NT END=76253181;NT GT ./. 1 76252011 rs1146634 G A 123 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.507,A/0.493;Gene=RABGGTB/NM_004582.3/1;CC=c.3+52G>A;VC=Intron;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:16:0:0:32:1082:123.43:35.29:88.14:1.00:1.00:1.00:60:41.5:0:0:95:43:27:NM_004582.2(RABGGTB) c.3+52G>A,NM_004582.2(RABGGTB) c.3+52G>A:0.49,0.49:0.642739,0.642739 1 76253290 . G . . NT END=76254843;NT GT ./. 1 76255042 . G . . NT END=76255636;NT GT ./. 1 76255228 rs11161620 G A 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8401,A/0.1599;PC=1.000;Gene=RABGGTB/NM_004582.3/1;CC=c.309+187G>A;VC=Intron;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding;Gene=SNORD45B/NR_002748.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,G:8:0:0:0:7,1:226,12:24.69,0.00:0.00,0.00:24.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.6,56.0:0,0:0,0:105,114:45,36:17,0:NR_002748.1(SNORD45B) n.67G>A,NR_002748.1(SNORD45B) n.67G>A:0.17,0.17:0.224451,0.224451 1 76255743 . G . . NT END=76255836;NT GT ./. 1 76255960 . G . . NT END=76256130;NT GT ./. 1 76256040 rs72244603 TAA T 108 nt VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=52;Gene=RABGGTB/NM_004582.3/1;CC=c.415+308_415+309delAA;VC=Intron;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:TAA,T:43:24:0:36:8,35:226,1032:0.00,107.59:0.00,47.81:0.00,59.79:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.6,23.9:0,1:0,0:136,84:10,65:5,35:-,NM_004582.2(RABGGTB) c.415+299_415+300delAA:-,NOT_FOUND:-,NOT_FOUND 1 76256203 . G . . NT END=76256969;NT GT ./. 1 76256232 rs12093623 T G 40 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.8413,G/0.1587;PC=0.050;Gene=RABGGTB/NM_004582.3/1;CC=c.415+490T>G;VC=Intron;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:38:11:0:0:15,23:444,748:40.41,0.00:6.43,0.00:33.98,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:43.9,4.7:0,0:0,0:94,97:57,53:29,28:NM_004582.2(RABGGTB) c.415+490T>G,-:0.17,-:NOT_FOUND,- 1 76256618 rs1146637 A G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.507,G/0.493;PC=0.129;Gene=RABGGTB/NM_004582.3/1;CC=c.416-352A>G;VC=Intron;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:137:15.61:3.98:11.63:1.00:1.00:1.00:60:34.2:0:0:97:53:22:NM_004582.2(RABGGTB) c.416-352A>G,NM_004582.2(RABGGTB) c.416-352A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 76257023 . G . . NT END=76257145;NT GT ./. 1 76257074 . AT A 9 idl,rn VT=DEL;SST=Single;DP=38;NP=8;PC=0.009;Gene=RABGGTB/NM_004582.3/1;CC=c.469-58delT;VC=Intron;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:AT,T,I,A:37:29:2:5:30,1,2,4:891,27,61,152:0.00,1.26,3.80,8.56:0.00,1.40,1.83,6.53:0.00,-0.14,1.97,2.02:0.00,0.00,0.00,0.60:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.78:60,60,60,70:11.4,36.0,26.5,18.5:0,0,0,1:0,0,0,0:80,1,91,34:70,150,32,117:44,0,21,22:-,NM_004582.2(RABGGTB) c.468+53delT:-,NOT_FOUND:-,0.088249 1 76257257 . G . . NT END=76257865;NT GT ./. 1 76257892 rs12703 A T 192 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.1028,T/0.8972;PC=0.994;Gene=RABGGTB/NM_004582.3/1;CC=c.606A>T;ProtCh=p.A202=;VC=Silent;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:T:50:44:0:0:50:1683:192.12:138.00:54.13:1.00:1.00:1.00:60:41.0:0:0:56:94:27:NM_004582.2(RABGGTB) c.=,NM_004582.2(RABGGTB) c.=:0.86,0.86:0.949946,0.949946 1 76257992 . G . . NT END=76259768;NT GT ./. 1 76259677 rs372421559 ACCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT A 70 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=ACCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT/0.8181,A/0.1819;DB;DBA=NA;PAF=ACCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT/0.8181,A/0.1819;NP=741;Gene=RABGGTB/NM_004582.3/1;CC=c.706-90_706-54delCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCTC;VC=Intron;Gene=RABGGTB/NR_073562.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:ACCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT,A:23:19:0:20:3,20:96,647:0.00,70.37:0.00,54.29:0.00,16.08:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,1.2:0,0:0,0:138,56:2,94:4,14:-,NM_004582.2(RABGGTB) c.706-91_706-55delCCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT:-,NOT_FOUND:-,NOT_FOUND 1 76259919 . G . . NT END=76260194;NT GT ./. 1 76260336 . A . . NT END=76262670;NT GT ./. 1 76262915 . G . . NT END=76269415;NT GT ./. 1 76269308 . A G 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;NP=4;PC=0.065;Gene=MSH4/NM_002440.3/1;CC=c.245-108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:16:0:0:8,8:258,269:0.00,25.90:0.00,24.41:0.00,1.49:0.00,1.00:0.00,1.00:0.00,0.79:60,60:37.0,62.6:0,0:0,0:29,27:122,123:24,18:-,NM_002440.3(MSH4) c.245-108A>G:-,NOT_FOUND:-,NOT_FOUND 1 76269372 rs5745323 T C 59 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.6166,C/0.3834;PC=0.210;Gene=MSH4/NM_002440.3/1;CC=c.245-44T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:37:0:0:19,22:627,701:59.47,0.00:42.45,0.00:17.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,42.8:0,0:0,0:38,44:112,107:14,19:NM_002440.3(MSH4) c.245-44T>C,-:0.39,-:0.537908,- 1 76269439 rs5745324 G A 113 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.9906,A/0.009385;NP=31;PC=0.995;Gene=MSH4/NM_002440.3/1;CC=c.268G>A;ProtCh=p.A90T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:55:0:0:35,30:1156,952:112.86,0.00:79.96,0.00:32.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,23.2:0,0:0,0:68,66:83,79:30,32:NM_002440.3(MSH4) c.268G>A (p.Ala90Thr),-:0.01,-:0.003383,- 1 76269599 . G . . NT END=76272665;NT GT ./. 1 76272654 rs5745328 A T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.9307,T/0.06929;Gene=MSH4/NM_002440.3/1;CC=c.428-12A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:47:40:0:0:29,18:934,561:0.00,51.10:0.00,28.84:0.00,22.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,45.1:0,0:0,0:64,66:86,84:23,33:-,NM_002440.3(MSH4) c.428-12A>T:-,0.06:-,0.063559 1 76272827 . G . . NT END=76276381;NT GT ./. 1 76276353 rs12122939 T C 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.8295,C/0.1705;PC=0.572;Gene=MSH4/NM_002440.3/1;CC=c.589-29T>C;VC=Intron;DM=MSH4/MutS_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:18:0:0:7,15:221,478:19.46,0.00:10.03,0.00:9.43,0.00:0.97,0.00:1.00,0.00:0.95,0.00:60,60:39.9,8.3:0,0:0,0:32,45:118,104:19,21:NM_002440.3(MSH4) c.589-29T>C,-:0.18,-:0.231677,- 1 76276493 . G . . NT END=76280705;NT GT ./. 1 76280822 . G . . NT END=76282057;NT GT ./. 1 76281884 rs5745376 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.9303,G/0.06969;Gene=MSH4/NM_002440.3/1;CC=c.816-174A>G;VC=Intron;DM=MSH4/MutS_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,G:12:12:0:0:5,7:171,183:0.00,17.98:0.00,17.98:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:4.2,65.3:0,0:0,0:27,25:120,125:15,20:-,NM_002440.3(MSH4) c.816-174A>G:-,0.06:-,NOT_FOUND 1 76282232 . G . . NT END=76288093;NT GT ./. 1 76287929 rs12740253 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9305,A/0.06949;PC=0.002;Gene=MSH4/NM_002440.3/1;CC=c.990-165G>A;VC=Intron;DM=MSH4/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:A,G:12:12:0:0:3,9:84,257:6.90,0.00:6.90,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:60,60:75.3,10.1:0,0:0,0:24,40:127,111:17,36:NM_002440.3(MSH4) c.990-165G>A,-:0.06,-:NOT_FOUND,- 1 76287973 rs76307354 C CA 25 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.058;Gene=MSH4/NM_002440.3/1;CC=c.990-103_990-102insA;VC=Intron;DM=MSH4/MutS_III;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:16:17:9:1:7,8,1:221,290,33:0.00,25.07,2.36:0.00,25.07,2.36:0.00,0.00,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.00,0.00:60,60,60:57.7,36.2,10.0:0,1,0:0,0,0:51,48,46:88,103,105:28,33,0:-,NM_002440.3(MSH4) c.990-121_990-120insA:-,NOT_FOUND:-,NOT_FOUND 1 76288267 . G . . NT END=76313893;NT GT ./. 1 76288487 rs1251275 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2404,C/0.7596;Gene=MSH4/NM_002440.3/1;CC=c.1162+221T>C;VC=Intron;DM=MSH4/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:5:0:0:0:3,2:103,62:10.27,0.00:0.00,0.00:10.27,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:45.3,38.5:0,0:0,0:86,49:63,100:8,44:NM_002440.3(MSH4) c.1162+221T>C,-:0.74,-:NOT_FOUND,- 1 76288496 rs544745951 G GT 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7883,GT/0.2117;DB;DBA=NA;PAF=G/0.7883,GT/0.2117;DB;DBA=NA;PAF=G/0.7883,GT/0.2117;DB;DBA=NA;PAF=NA;NP=38;PC=0.005;Gene=MSH4/NM_002440.3/1;CC=c.1162+239_1162+240insT;VC=Intron;DM=MSH4/MutS_III;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,GT:5:0:4:0:1,4:35,133:0.00,14.12:0.00,0.00:0.00,14.12:0.00,0.96:0.00,0.00:0.00,0.96:60,60:51.0,40.5:0,0:0,0:14,99:136,50:0,4:-,NM_002440.3(MSH4) c.1162+230_1162+231insT:-,0.22:-,NOT_FOUND 1 76313874 rs2047435 C T 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.767,A/.,T/0.233;Gene=MSH4/NM_002440.3/1;CC=c.1163-20C>T;VC=Intron;DM=MSH4/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:36:0:0:20,18:698,580:0.00,55.13:0.00,33.76:0.00,21.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,34.2:0,0:0,0:50,50:99,90:23,16:-,NM_002440.3(MSH4) c.1163-20C>T:-,0.26:-,0.185977 1 76313962 . G . . NT END=76333198;NT GT ./. 1 76333058 rs5745431 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9904,G/0.009585;Gene=MSH4/NM_002440.3/1;CC=c.1231-141A>G;VC=Intron;DM=MSH4/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:13:13:0:0:5,8:130,231:0.00,23.17:0.00,23.17:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:19.2,37.1:0,0:0,0:72,43:76,107:17,22:-,NM_002440.3(MSH4) c.1231-141A>G:-,0.01:-,NOT_FOUND 1 76333163 rs5745433 T G 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.8345,C/.,G/0.1655;Gene=MSH4/NM_002440.3/1;CC=c.1231-36T>G;VC=Intron;DM=MSH4/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:19:0:0:8,13:276,431:25.36,0.00:14.35,0.00:11.01,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:34.5,3.5:0,0:0,0:40,40:92,111:17,28:NM_002440.3(MSH4) c.1231-36T>G,-:0.17,-:0.226601,- 1 76333274 . G . . NT END=76342620;NT GT ./. 1 76333334 rs5745436 G A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.973,GA/0.01737;DB;DBA=NA;PAF=G/0.973,A/0.009585;DB;DBA=NA;PAF=NA;NP=223;NP=24;Gene=MSH4/NM_002440.3/1;CC=c.1305+61G>A;VC=Intron;DM=MSH4/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,G:10:1:0:0:5,5:165,173:15.87,0.00:-0.15,0.00:16.03,0.00:0.95,0.00:0.67,0.00:0.95,0.00:60,60:54.0,2.2:0,0:0,0:87,73:64,77:48,35:NM_002440.3(MSH4) c.1305+61G>A,-:0.01,-:NOT_FOUND,- 1 76342686 . G . . NT END=76343833;NT GT ./. 1 76342858 rs5745442 T G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8482,G/0.1518;PC=0.004;Gene=MSH4/NM_002440.3/1;CC=c.1370+173T>G;VC=Intron;DM=MSH4/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:5:0:0:0:4,1:137,33:14.52,0.00:0.00,0.00:14.52,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:51.2,0.0:0,0:0,0:108,126:42,24:15,0:NM_002440.3(MSH4) c.1370+173T>G,-:0.15,-:NOT_FOUND,- 1 76343689 rs5745443 TA T 28 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=TA/0.8361,T/0.1639;DB;DBA=NA;PAF=TA/0.8361,T/0.1639;NP=144;Gene=MSH4/NM_002440.3/1;CC=c.1371-142delA;VC=Intron;DM=MSH4/MutS_III;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:17:17:0:9:8,9:253,291:0.00,28.29:0.00,28.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.0,7.3:0,0:0,0:44,43:106,107:29,12:-,NM_002440.3(MSH4) c.1371-144delA:-,0.16:-,NOT_FOUND 1 76344004 . G . . NT END=76344676;NT GT ./. 1 76344011 rs1493367 C A 94 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.2073,A/0.7927;Gene=MSH4/NM_002440.3/1;CC=c.1540+8C>A;VC=Intron;DM=MSH4/MutS_III;DM=MSH4/MutS_IV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:56:24:0:0:30,26:970,900:94.45,0.00:28.09,0.00:66.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,2.6:0,0:0,0:105,92:41,55:25,33:NM_002440.3(MSH4) c.1540+8C>A,-:0.8,-:0.741119,- 1 76344711 rs5745449 A T 100 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.2073,G/.,T/0.7927;PC=0.132;Gene=MSH4/NM_002440.3/1;CC=c.1575A>T;ProtCh=p.L525=;VC=Silent;DM=MSH4/MutS_III;DM=MSH4/MutS_IV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:55:33:0:0:24,31:761,1018:0.00,100.23:0.00,45.21:0.00,55.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,37.1:0,0:0,0:72,66:78,85:24,28:-,NM_002440.3(MSH4) c.1575A>T (p.(=)):-,0.8:-,0.741541 1 76344814 . G . . NT END=76345734;NT GT ./. 1 76344856 rs5745451 T C 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7676,C/0.2324;Gene=MSH4/NM_002440.3/1;CC=c.1677+43T>C;VC=Intron;DM=MSH4/MutS_III;DM=MSH4/MutS_IV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:8:0:0:11,10:372,324:36.14,0.00:8.40,0.00:27.74,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:49.2,29.6:0,0:0,0:87,110:63,38:27,15:NM_002440.3(MSH4) c.1677+43T>C,-:0.26,-:0.186422,- 1 76344920 rs5745453 G A 48 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.04353,A/0.9565;Gene=MSH4/NM_002440.3/1;CC=c.1677+107G>A;VC=Intron;DM=MSH4/MutS_III;DM=MSH4/MutS_IV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:1:0:0:13:419:48.10:1.94:46.16:1.00:1.00:1.00:60:53.8:0:0:95:56:34:NM_002440.3(MSH4) c.1677+107G>A,NM_002440.3(MSH4) c.1677+107G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 76345839 . G . . NT END=76346930;NT GT ./. 1 76346920 rs5745466 C CAT 107 nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.04333,CAT/0.9567;NP=3184;Gene=MSH4/NM_002440.3/1;CC=c.1782-11_1782-10insAT;VC=Intron;DM=MSH4/MutS_III;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:CAT:29:26:29:0:29:932:107.03:75.87:31.15:1.00:1.00:1.00:60:3.5:0:0:42:107:21:NM_002440.3(MSH4) c.1782-11_1782-10insAT,NM_002440.3(MSH4) c.1782-11_1782-10insAT:NOT_FOUND,NOT_FOUND:0.955504,0.955504 1 76347056 . G . . NT END=76349305;NT GT ./. 1 76349507 . G . . NT END=76354935;NT GT ./. 1 76355055 . G . . NT END=76356380;NT GT ./. 1 76356510 . G . . NT END=76363591;NT GT ./. 1 76356648 rs5745507 G A 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6116,A/0.3884;PC=0.002;Gene=MSH4/NM_002440.3/1;CC=c.2355+139G>A;VC=Intron;DM=MSH4/MutS_V GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:36:9:0:0:16,19,1:511,619,10:48.26,0.00,0.00:4.47,0.00,0.20:43.78,0.00,-0.20:1.00,0.00,0.00:0.85,0.00,0.00:1.00,0.00,0.00:60,60,60:36.2,9.7,10.0:0,0,0:0,0,0:82,111,140:68,31,11:27,28,0:NM_002440.3(MSH4) c.2355+139G>A,-:0.42,-:NOT_FOUND,- 1 76363767 . G . . NT END=76365302;NT GT ./. 1 76365392 . G . . NT END=76378380;NT GT ./. 1 76378360 . T TA 54 idl,nt VT=INS;SST=Single;DP=43;NP=37;PC=0.184;Gene=MSH4/NM_002440.3/1;CC=c.2620-21_2620-20insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:42:37:19:8:24,18:775,600:0.00,53.73:0.00,31.95:0.00,21.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.0,39.4:0,1:0,0:39,58:105,93:18,27:-,NM_002440.3(MSH4) c.2620-21_2620-20insA:-,NOT_FOUND:-,NOT_FOUND 1 76378361 rs567535002 T A 75 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.6022,A/0.3922;DB;DBA=NA;PAF=NA;NP=320;PC=0.004;Gene=MSH4/NM_002440.3/1;CC=c.2620-20T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:36:0:5:24,21:770,679:74.95,0.00:56.47,0.00:18.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,39.0:0,19:0,0:36,60:104,91:14,27:NM_002440.3(MSH4) c.2620-20T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 76378362 rs2881857 T A 63 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=4;PC=0.004;Gene=MSH4/NM_002440.3/1;CC=c.2620-19T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:48:39:0:5:21,27:669,849:62.62,0.00:30.73,0.00:31.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,47.1:19,3:0,0:53,46:90,101:30,18:NM_002440.3(MSH4) c.2620-19T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 76378573 . T . . NT END=76384636;NT GT ./. 1 76384844 . C . . NT END=76387764;NT GT ./. 1 76388045 . C . . NT END=76397575;NT GT ./. 1 76397977 . T . . NT END=76540551;NT GT ./. 1 76532011 rs140446446 GAAAAT G 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GAAAAT/0.9503,G/0.04972;NP=104;PC=0.001;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GAAAAT,G:4:2:0:3:1,3:35,84:0.00,8.85:0.00,5.43:0.00,3.42:0.00,0.85:0.00,0.95:0.00,0.99:60,60:0.0,5.0:0,0:0,0:94,93:57,58:0,4:-,chr1 g.76532012_76532016delAAAAT (intergenic):-,0.06:-,NOT_FOUND 1 76540291 rs11162079 C G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6498,G/0.3502;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,G:7:7:0:0:1,6:32,154:0.00,16.90:0.00,16.90:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,46.8:0,0:0,0:11,16:140,129:0,6:-,NM_152996.2(ST6GALNAC3) c.-163-u98C>G:-,0.41:-,NOT_FOUND 1 76540570 . G . . NT END=76779489;NT GT ./. 1 76667990 rs55719816 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1472,C/0.8528;DB;DBA=NA;PAF=NA;Gene=ST6GALNAC3/NM_001160011.1/0;CC=c.19-111500T>C;VC=Intron;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.19-111500T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:162:18.58:3.88:14.71:1.00:1.00:1.00:60:34.4:0:0:47:104:9:NM_152996.2(ST6GALNAC3) c.19-111500T>C,NM_152996.2(ST6GALNAC3) c.19-111500T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 76751070 rs4000173 G GGTGTGTGTGTGTGT 13 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6012,GGT/.,GGTGT/.,GGTGTGTGTGTGT/0.3988;DB;DBA=NA;PAF=NA;NP=14;NP=63;PC=0.008;Gene=ST6GALNAC3/NM_001160011.1/0;CC=c.19-28394_19-28393insGTGTGTGTGTGTGT;VC=Intron;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.19-28394_19-28393insGTGTGTGTGTGTGT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GGTGTGTGTGTGTGT:5:6:6:0:1,4:34,193:0.00,13.47:0.00,10.32:0.00,3.15:0.00,0.90:0.00,0.99:0.00,0.97:60,60:9.0,68.8:0,2:0,0:108,53:27,97:0,23:-,NM_152996.2(ST6GALNAC3) c.19-28420_19-28419insGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 76751099 rs3891339 A G 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5649,G/0.4351;PC=0.001;Gene=ST6GALNAC3/NM_001160011.1/0;CC=c.19-28391A>G;VC=Intron;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.19-28391A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:5:0:0:9:295:33.79:10.43:23.36:1.00:1.00:1.00:60:56.4:0:0:53:60:31:NM_152996.2(ST6GALNAC3) c.19-28391A>G,NM_152996.2(ST6GALNAC3) c.19-28391A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 76751155 rs4086568 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5655,A/0.4345;Gene=ST6GALNAC3/NM_001160011.1/0;CC=c.19-28335G>A;VC=Intron;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.19-28335G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:3:0:0:6:195:22.36:7.60:14.76:1.00:1.00:1.00:60:67.7:0:0:101:40:6:NM_152996.2(ST6GALNAC3) c.19-28335G>A,NM_152996.2(ST6GALNAC3) c.19-28335G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 76779685 . G . . NT END=76877692;NT GT ./. 1 76779877 rs10873878 T G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7474,G/0.2526;Gene=ST6GALNAC3/NM_001160011.1/0;CC=c.213+193T>G;VC=Intron;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.213+193T>G;VC=Intron;DM=ST6GALNAC3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:G,T:12:0:0:0:5,7:166,205:15.45,0.00:0.00,0.00:15.45,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:39.0,36.4:0,0:0,0:116,69:35,82:15,52:NM_152996.2(ST6GALNAC3) c.213+193T>G,-:0.23,-:NOT_FOUND,- 1 76871294 rs71704653 TTG T 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=427;Gene=ST6GALNAC3/NM_001160011.1/0;CC=c.214-6382_214-6381delTG;VC=Intron;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.214-6382_214-6381delTG;VC=Intron;DM=ST6GALNAC3/Glyco_transf_29;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:127:14.61:10.78:3.83:1.00:1.00:1.00:60:10.2:0:0:36:109:14:NM_152996.2(ST6GALNAC3) c.214-6398_214-6397delTG,NM_152996.2(ST6GALNAC3) c.214-6398_214-6397delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 76878103 . G . . NT END=77042530;NT GT ./. 1 77042895 . C . . NT END=77042927;NT GT ./. 1 77043027 . G . . NT END=77093136;NT GT ./. 1 77065402 . CGTGTGTGT C 6 idl,nt VT=DEL;SST=Single;DP=6;NP=6;PC=0.773;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.624-27696_624-27689delGTGTGTGT;VC=Intron;DM=ST6GALNAC3/Glyco_transf_29;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:CGTGTGTGT,C:4:5:0:4:2,2:41,98:0.00,6.35:0.00,4.49:0.00,1.86:0.00,0.42:0.00,0.86:0.00,0.86:60,60:64.0,25.5:0,2:0,0:99,88:32,62:26,5:-,NM_152996.2(ST6GALNAC3) c.624-27734_624-27727delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 77093010 rs680442 C T 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5569,T/0.4431;PC=1.000;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.624-127C>T;VC=Intron;DM=ST6GALNAC3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:78.4:0:0:49:102:21:NM_152996.2(ST6GALNAC3) c.624-127C>T,NM_152996.2(ST6GALNAC3) c.624-127C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 1 77093011 rs587021 T G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5551,C/.,G/0.4449;PC=1.000;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.624-126T>G;VC=Intron;DM=ST6GALNAC3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:177:20.08:20.08:0.00:1.00:1.00:0.00:60:78.4:0:0:50:101:21:NM_152996.2(ST6GALNAC3) c.624-126T>G,NM_152996.2(ST6GALNAC3) c.624-126T>G:0.39,0.39:NOT_FOUND,NOT_FOUND 1 77093180 rs1184626 C A 132 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.5571,A/0.4429;PC=1.000;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.667C>A;ProtCh=p.L223I;VC=Missense;DM=ST6GALNAC3/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:24:0:0:35:1158:132.49:58.59:73.90:1.00:1.00:1.00:60:39.1:0:0:64:85:18:NM_152996.2(ST6GALNAC3) c.667C>A (p.Leu223Ile),NM_152996.2(ST6GALNAC3) c.667C>A (p.Leu223Ile):0.42,0.42:0.477779,0.477779 1 77093245 . G . . NT END=77094304;NT GT ./. 1 77094826 rs676269 A G 309 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.6482,G/0.3518;PC=0.004;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.*335A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:56:0:0:86:2679:308.82:152.55:156.26:1.00:1.00:1.00:60:37.0:0:0:56:90:30:NM_152996.2(ST6GALNAC3) c.*335A>G,NM_152996.2(ST6GALNAC3) c.*335A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 77094985 rs650427 C G 327 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.5587,G/0.4413;Gene=ST6GALNAC3/NM_152996.2/1;CC=c.*494C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:89:47:0:0:1,88:34,2879:0.00,327.33:0.00,153.04:0.00,174.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,39.1:0,0:0,0:60,95:50,53:0,30:NM_152996.2(ST6GALNAC3) c.*494C>G,NM_152996.2(ST6GALNAC3) c.*494C>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 77096670 . T . . NT END=77099812;NT GT ./. 1 77099691 rs636038 G A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5563,A/0.4437;PC=0.911 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:288:33.06:33.06:0.00:1.00:1.00:0.00:60:48.6:0:0:41:110:20:chr1 g.77099690G>A (intergenic),chr1 g.77099690G>A (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 1 77099877 . A . . NT END=77333360;NT GT ./. 1 77164516 rs4245653 G GTGTA 14 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=2;NP=28;NP=4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GTGTA:5:3:5:0:1,4:34,166:0.00,14.03:0.00,3.36:0.00,10.66:0.00,0.93:0.00,0.97:0.00,0.93:60,60:0.0,92.2:0,1:0,0:93,93:3,48:0,38:-,chr1 g.77164516_77164517insTGTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 77164519 rs2349040 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.09964,T/0.9004;NP=81 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:2:0:0:5:171:19.48:3.93:15.56:1.00:1.00:1.00:70:75.6:1:0:100:41:36:chr1 g.77164518C>T (intergenic),chr1 g.77164518C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 77164530 rs11162192 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6949,G/0.3051;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:6:3:0:0:2,4:67,128:0.00,13.05:0.00,4.91:0.00,8.14:0.00,0.93:0.00,0.97:0.00,0.99:60,60:71.5,85.2:0,0:0,0:104,85:46,35:37,44:-,chr1 g.77164529A>G (intergenic):-,0.29:-,NOT_FOUND 1 77165306 rs6593552 A G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.09505,G/0.905,T/.;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:6:0:0:7:175:20.73:15.36:5.37:1.00:1.00:1.00:60:29.7:0:0:69:81:41:chr1 g.77165305A>G (intergenic),chr1 g.77165305A>G (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 77165502 rs2764657 G T 199 nt VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.102,T/0.898;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:51:0:0:54:1735:199.23:145.41:53.82:1.00:1.00:1.00:60:34.3:0:0:58:89:24:chr1 g.77165501G>T (intergenic),chr1 g.77165501G>T (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 77165835 rs2619599 G C 470 nt VT=SNV;PN=G;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.102,C/0.898;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:129:74:0:0:128,1:4110,9:470.10,0.00:213.08,0.00:257.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,59:39.4,35.0:0,0:0,0:71,21:78,112:34,0:chr1 g.77165834G>C (intergenic),chr1 g.77165834G>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 77333376 . G . . NT END=77334181;NT GT ./. 1 77334428 . G . . NT END=77509888;NT GT ./. 1 77510008 rs35763299 C A 368 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=216;DB;DBA=NA;PAF=NA;PC=0.991;Gene=ST6GALNAC5/NM_030965.1/1;CC=c.381C>A;ProtCh=p.P127=;VC=Silent;DM=ST6GALNAC5/Glyco_transf_29;DM=ST6GALNAC5/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:216:171:0:0:115,101:3779,3220:367.92,0.00:251.29,0.00:116.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,8.2:0,0:0,0:64,56:78,94:35,30:NM_030965.1(ST6GALNAC5) c.381C>A (p.(=)),-:0.02,-:0.019145,- 1 77510299 . G . . NT END=77515942;NT GT ./. 1 77516051 . G . . NT END=77528659;NT GT ./. 1 77528892 . G . . NT END=77558058;NT GT ./. 1 77558176 . C . . NT END=77587959;NT GT ./. 1 77588045 . C . . NT END=77620133;NT GT ./. 1 77595399 rs201214608 AAAAT A 54 rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=AAAAT/0.866,A/0.134;NP=89;PC=0.012;Gene=PIGK/NM_005482.2/1;CC=c.987-7359_987-7356delATTT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAAT,A:38:4:0:19:19,19:599,561:0.00,53.72:0.00,2.52:0.00,51.19:0.00,1.00:0.00,0.94:0.00,1.00:60,60:11.2,24.3:0,0:0,0:124,73:27,78:18,28:-,NM_005482.2(PIGK) c.987-7359_987-7356delATTT:-,NOT_FOUND:-,NOT_FOUND 1 77620035 rs839832 T C 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.01158,C/0.9884;NP=2918;Gene=PIGK/NM_005482.2/1;CC=c.986+99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:408:46.52:46.52:0.00:1.00:1.00:0.00:60:37.2:0:0:49:101:27:NM_005482.2(PIGK) c.986+99A>G,NM_005482.2(PIGK) c.986+99A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 77620307 . C . . NT END=77626979;NT GT ./. 1 77627091 . C . . NT END=77627278;NT GT ./. 1 77627096 rs839825 G A 80 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.01138,A/0.9886;NP=3481;Gene=PIGK/NM_005482.2/1;CC=c.703-6C>T;VC=Intron;DM=PIGK/Peptidase_C13;DM=PIGK/Peptidase_C13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:11:0:0:22:691:79.56:26.75:52.81:1.00:1.00:1.00:60:42.3:0:0:92:49:30:NM_005482.2(PIGK) c.703-6C>T,NM_005482.2(PIGK) c.703-6C>T:0.99,0.99:0.987613,0.987613 1 77627397 . C . . NT END=77629530;NT GT ./. 1 77629628 . C . . NT END=77632403;NT GT ./. 1 77632270 rs1721144 T C 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01338,C/0.9866;Gene=PIGK/NM_005482.2/1;CC=c.487+134A>G;VC=Intron;DM=PIGK/Peptidase_C13;DM=PIGK/Peptidase_C13;DM=PIGK/Peptidase_C13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:174:19.78:19.78:0.00:1.00:1.00:0.00:60:53.6:0:0:44:107:5:NM_005482.2(PIGK) c.487+134A>G,NM_005482.2(PIGK) c.487+134A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 77632516 . C . . NT END=77634944;NT GT ./. 1 77634948 rs1779199 G A 134 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.01338,A/0.9866;PC=1.000;Gene=PIGK/NM_005482.2/1;CC=c.372C>T;ProtCh=p.Y124=;VC=Silent;DM=PIGK/Peptidase_C13;DM=PIGK/Peptidase_C13;DM=PIGK/Peptidase_C13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A:35:31:0:0:35:1169:133.52:87.78:45.74:1.00:1.00:1.00:60:39.1:0:0:77:60:39:NM_005482.2(PIGK) c.=,NM_005482.2(PIGK) c.=:0.99,0.99:0.983159,0.983159 1 77635081 . C . . NT END=77672324;NT GT ./. 1 77661175 rs940282 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6895,C/0.3105;PC=0.650;Gene=PIGK/NM_005482.2/1;CC=c.239+11150A>G;VC=Intron;DM=PIGK/Peptidase_C13;DM=PIGK/Peptidase_C13;DM=PIGK/Peptidase_C13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:13:1:0:0:7,6:237,167:23.15,0.00:3.31,0.00:19.84,0.00:0.99,0.00:0.69,0.00:1.00,0.00:60,60:38.9,25.7:0,0:0,0:130,90:21,60:16,48:NM_005482.2(PIGK) c.239+11150A>G,-:0.34,-:NOT_FOUND,- 1 77672417 . C . . NT END=77676120;NT GT ./. 1 77676175 . C . . NT END=77684994;NT GT ./. 1 77685088 . G . . NT END=77747998;NT GT ./. 1 77685404 rs147538908 TTTTA T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TTTTA/0.03474,T/0.9653;DB;DBA=NA;PAF=TTTTA/0.03474,T/0.9653;NP=492;PC=0.002;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:TTTTA,T:6:0:0:3:3,3:97,95:0.00,9.12:0.00,0.00:0.00,9.12:0.00,0.73:0.00,0.00:0.00,0.73:60,60:22.7,36.0:0,0:0,0:141,44:10,106:0,22:-,NM_005482.2(PIGK) c.-45-u276_-45-u273delTAAA:-,NOT_FOUND:-,NOT_FOUND 1 77692662 rs58726312 T TACACAC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=19;NP=49;PC=0.566;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TACACAC:4:3:3:0:1,3:33,95:0.00,9.95:0.00,6.60:0.00,3.35:0.00,0.85:0.00,0.99:0.00,0.83:60,60:0.0,26.0:0,0:0,0:120,69:31,82:0,12:-,chr1 g.77692662_77692663insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 77748059 . G . . NT END=77748286;NT GT ./. 1 77749297 . G . . NT END=77752625;NT GT ./. 1 77749363 rs7517698 G C 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.001;Gene=AK5/NM_174858.2/1;CC=c.60+1305G>C;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.-17+67G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:8:0:0:22,15:743,495:73.94,0.00:13.12,0.00:60.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,3.7:0,0:0,0:84,93:67,45:32,24:NM_174858.2(AK5) c.60+1305G>C,-:0.27,-:NOT_FOUND,- 1 77749527 rs1779173 C T 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4826,T/0.5174;Gene=AK5/NM_174858.2/1;CC=c.60+1469C>T;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.-17+231C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:240:27.34:0.00:27.34:1.00:0.00:1.00:60:36.6:0:0:106:44:12:NM_174858.2(AK5) c.60+1469C>T,NM_174858.2(AK5) c.60+1469C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 77752813 . G . . NT END=77759477;NT GT ./. 1 77752996 rs1167204 T C 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.02157,C/0.9784;Gene=AK5/NM_174858.2/1;CC=c.247+184T>C;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.169+184T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:357:41.38:0.00:41.38:1.00:0.00:1.00:60:37.0:0:0:105:45:31:NM_174858.2(AK5) c.247+184T>C,NM_174858.2(AK5) c.247+184T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 77759646 . G . . NT END=77763243;NT GT ./. 1 77763071 rs1167207 A G 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1336,G/0.8664;Gene=AK5/NM_174858.2/1;CC=c.416-173A>G;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.338-173A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:308:35.97:35.97:0.00:1.00:1.00:0.00:60:34.3:0:0:25:126:21:NM_174858.2(AK5) c.416-173A>G,NM_174858.2(AK5) c.416-173A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 77763414 . G . . NT END=77763518;NT GT ./. 1 77763542 rs1167206 G A 174 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.02117,G/0.9788,T/.;PC=1.000;Gene=AK5/NM_174858.2/1;CC=c.609G>A;ProtCh=p.K203=;VC=Silent;Gene=AK5/NM_012093.3/0;CC=c.531G>A;ProtCh=p.K177=;VC=Silent;DM=AK5/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A:48:30:0:0:48:1516:174.44:86.26:88.18:1.00:1.00:1.00:60:37.1:0:0:63:87:29:NM_174858.2(AK5) c.=,NM_174858.2(AK5) c.=:0.99,0.99:0.98393,0.98393 1 77763633 . G . . NT END=77806061;NT GT ./. 1 77789993 rs4033034 T TCAC 33 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=4;NP=613;PC=0.051;Gene=AK5/NM_174858.2/1;CC=c.700-16066_700-16064dupCCA;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.622-16066_622-16064dupCCA;VC=Intron;DM=AK5/ADK;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:TCAC:9:8:9:0:9:286:32.89:18.08:14.81:1.00:1.00:1.00:60:2.4:0:0:45:88:14:NM_174858.2(AK5) c.700-16069_700-16068insCAC,NM_174858.2(AK5) c.700-16069_700-16068insCAC:0.8,0.8:NOT_FOUND,NOT_FOUND 1 77790003 rs10547281 CGTGTGTGT C,CGTGTGTGTGT 23 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=26;DM=AK5/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:CGTGTGTGT,CGTGTGTGTGT,C:9:8:7:1:1,7,1:32,215,33:0.00,23.42,2.77:0.00,13.17,1.41:0.00,10.25,1.36:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,60,60:0.0,3.1,0.0:0,0,0:0,0,0:117,63,50:27,75,73:0,13,0:NM_174858.2(AK5) c.700-16058_700-16051delGTGTGTGT,NM_174858.2(AK5) c.700-16052_700-16051dupGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 77806254 . G . . NT END=77876665;NT GT ./. 1 77806434 rs5775390 TA T 32 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TA/0.1789,T/0.8211;DB;DBA=NA;PAF=TA/0.1789,T/0.8211;NP=400;PC=0.614;Gene=AK5/NM_174858.2/1;CC=c.891+188delA;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.813+188delA;VC=Intron;DM=AK5/ADK;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:TA,T:14:0:0:10:4,10:111,310:0.00,32.13:0.00,0.00:0.00,32.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.0,7.7:0,0:0,0:150,99:1,51:0,21:-,NM_174858.2(AK5) c.891+182delA:-,0.8:-,NOT_FOUND 1 77821553 rs67621919 TACAC T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TACAC/0.1062,T/0.8938;DB;DBA=NA;PAF=TACAC/0.1062,T/0.8938;NP=50;PC=0.008;Gene=AK5/NM_174858.2/1;CC=c.891+15334_891+15337delCACA;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.813+15334_813+15337delCACA;VC=Intron;DM=AK5/ADK;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:TACAC,T:5:4:0:4:2,3:50,97:0.00,9.67:0.00,4.74:0.00,4.94:0.00,0.78:0.00,0.97:0.00,0.97:60,60:104.5,32.0:0,0:0,0:68,53:35,97:42,5:-,NM_174858.2(AK5) c.891+15301_891+15304delACAC:-,NOT_FOUND:-,NOT_FOUND 1 77876406 rs10782647 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4179,T/0.5821;Gene=AK5/NM_174858.2/1;CC=c.892-260C>T;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.814-260C>T;VC=Intron;DM=AK5/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:41.2:0:0:70:81:24:NM_174858.2(AK5) c.892-260C>T,NM_174858.2(AK5) c.892-260C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 77876757 . G . . NT END=77883323;NT GT ./. 1 77883401 . G . . NT END=77949001;NT GT ./. 1 77883412 rs1532507 C T 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8746,T/0.1254;PC=0.020;Gene=AK5/NM_174858.2/1;CC=c.1059+12C>T;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.981+12C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:9:0:0:12,10:393,320:0.00,30.20:0.00,9.05:0.00,21.15:0.00,1.00:0.00,0.99:0.00,1.00:60,60:1.0,44.8:0,0:0,0:96,117:53,32:38,4:-,NM_174858.2(AK5) c.1059+12C>T:-,0.12:-,0.129365 1 77949045 . G . . NT END=77951992;NT GT ./. 1 77952038 . G . . NT END=77984248;NT GT ./. 1 77984413 . G . . NT END=77987511;NT GT ./. 1 77987629 . G . . NT END=78001531;NT GT ./. 1 78001287 rs3738079 T G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3383,G/0.6617;Gene=AK5/NM_174858.2/1;CC=c.1429-245T>G;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.1351-245T>G;VC=Intron;DM=AK5/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:G,T:5:5:0:0:3,2:87,70:8.67,0.00:8.67,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:29.0,0.0:0,0:0,0:37,47:114,104:25,29:NM_174858.2(AK5) c.1429-245T>G,-:0.69,-:NOT_FOUND,- 1 78001724 . G . . NT END=78024286;NT GT ./. 1 78001764 rs372151681 C CT 13 idl,rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=AK5/NM_174858.2/1;CC=c.1620+55dupT;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.1542+55dupT;VC=Intron;DM=AK5/ADK;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CT,D:57:20:6:4:47,6,4:1475,186,130:0.00,13.34,8.81:0.00,2.24,2.24:0.00,11.09,6.57:0.00,0.83,0.00:0.00,0.80,0.00:0.00,0.98,0.00:60,60,60:14.3,23.0,0.0:0,0,0:0,0,0:109,98,99:36,52,50:27,22,7:-,NM_174858.2(AK5) c.1620+41_1620+42insT:-,NOT_FOUND:-,NOT_FOUND 1 78001881 rs10873948 T C 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.02855,C/0.9714;Gene=AK5/NM_174858.2/1;CC=c.1620+158T>C;VC=Intron;Gene=AK5/NM_012093.3/0;CC=c.1542+158T>C;VC=Intron;DM=AK5/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:345:39.72:0.00:39.72:1.00:0.00:1.00:60:45.6:0:0:97:54:15:NM_174858.2(AK5) c.1620+158T>C,NM_174858.2(AK5) c.1620+158T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 78024284 rs6675743 T C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.3147,C/0.6853;Gene=AK5/NM_174858.2/1;CC=c.1621-3T>C;VC=Intergenic;Gene=AK5/NM_012093.3/0;CC=c.1543-3T>C;VC=Intergenic;DM=AK5/ADK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:26:0:0:9,21:314,634:27.75,0.00:14.83,0.00:12.92,0.00:0.99,0.00:1.00,0.00:0.99,0.00:60,60:42.6,6.9:0,0:0,0:54,51:96,78:23,21:NM_174858.2(AK5) c.1621-3T>C,-:0.72,-:0.716823,- 1 78024345 rs79671213 C CTAT 23 PASS VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3804,CCAT/.,CT/.,CTAT/0.6196,CTATTAT/.;NP=1;NP=3166;PC=1.000;Gene=AK5/NM_174858.2/1;CC=c.1681_1683dupATT;ProtCh=p.I561_F562insI;VC=InFrameIns;Gene=AK5/NM_012093.3/0;CC=c.1603_1605dupATT;ProtCh=p.I535_F536insI;VC=InFrameIns;DM=AK5/ADK;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTAT:34:22:9:0:25,9:809,277:0.00,23.47:0.00,16.04:0.00,7.42:0.00,0.99:0.00,1.00:0.00,1.00:60,60:10.5,30.8:0,0:0,0:84,100:56,50:32,33:-,NM_174858.2(AK5) c.1681_1683dupATT (p.Ile561dup):-,0.66:-,0.640176 1 78024356 . A . . NT END=78031324;NT GT ./. 1 78031470 . C . . NT END=78031765;NT GT ./. 1 78031867 . C . . NT END=78034016;NT GT ./. 1 78031994 rs7552291 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4551,G/0.5449;Gene=ZZZ3/NM_015534.5/1;CC=c.2467-128T>C;VC=Intron;Gene=ZZZ3/NM_001308237.1/0;CC=c.985-128T>C;VC=Intron;DM=ZZZ3/ZZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:1:0:0:8,9:261,309:0.00,30.09:0.00,1.85:0.00,28.24:0.00,1.00:0.00,0.69:0.00,1.00:60,60:4.2,36.7:0,0:0,0:83,112:67,39:58,16:-,NM_015534.4(ZZZ3) c.2467-128T>C:-,0.61:-,NOT_FOUND 1 78033981 rs530314782 AAAATG A 101 nt VT=DEL;SST=Single;DP=70;DB;DBA=NA;PAF=AAAATG/0.4639,A/0.5361;DB;DBA=NA;PAF=AAAATG/0.4639,A/0.5361;NP=1917;PC=0.032;Gene=ZZZ3/NM_015534.5/1;CC=c.2466+31_2466+35delCATTT;VC=Intron;Gene=ZZZ3/NM_001308237.1/0;CC=c.984+31_984+35delCATTT;VC=Intron;DM=ZZZ3/ZZ;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAATG,A:70:56:0:35:36,34:1158,1060:0.00,101.14:0.00,68.26:0.00,32.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,14.5:1,0:0,0:43,73:107,72:26,25:-,NM_015534.4(ZZZ3) c.2466+31_2466+35delCATTT:-,0.6:-,0.601121 1 78034152 . C . . NT END=78041752;NT GT ./. 1 78034156 rs10581619 CAA C 53 idl,rn VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=CAA/0.5799,C/0.4201;NP=4;PC=0.002;Gene=ZZZ3/NM_015534.5/1;CC=c.2332-7_2332-6delTT;VC=Intron;Gene=ZZZ3/NM_001308237.1/0;CC=c.850-7_850-6delTT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CAA,I,C:53:35:1:44:8,25,1,19:185,744,33,881:13.83,0.00,1.81,52.69:-0.07,0.00,1.90,38.59:13.90,0.00,-0.09,14.10:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:108.4,27.5,24.0,56.3:2,0,0,10:0,0,0,0:79,142,27,66:71,8,123,84:26,6,0,28:-,NM_015534.4(ZZZ3) c.2332-7_2332-6delTT:-,NOT_FOUND:-,NOT_FOUND 1 78041906 . C . . NT END=78044458;NT GT ./. 1 78042122 rs3736313 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7638,G/0.2362;Gene=ZZZ3/NM_015534.5/1;CC=c.2179-217T>C;VC=Intron;Gene=ZZZ3/NM_001308237.1/0;CC=c.697-217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G:6:0:0:0:1,5:32,146:0.00,15.80:0.00,0.00:0.00,15.80:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,55.2:0,0:0,0:110,110:41,40:0,12:-,NM_015534.4(ZZZ3) c.2179-217T>C:-,0.28:-,NOT_FOUND 1 78044555 . C . . NT END=78045211;NT GT ./. 1 78045314 . C . . NT END=78046682;NT GT ./. 1 78045369 rs1565852 G A 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.3668,A/0.6332;Gene=ZZZ3/NM_015534.5/1;CC=c.1981-56C>T;VC=Intron;Gene=ZZZ3/NM_001308237.1/0;CC=c.499-56C>T;VC=Intron;DM=ZZZ3/Myb_DNA-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:10:0:0:17,14:551,451:53.95,0.00:9.57,0.00:44.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.0,11.8:0,0:0,0:105,108:45,42:18,35:NM_015534.4(ZZZ3) c.1981-56C>T,-:0.69,-:NOT_FOUND,- 1 78046755 . C . . NT END=78047460;NT GT ./. 1 78047577 . C . . NT END=78047663;NT GT ./. 1 78047812 . C . . NT END=78050201;NT GT ./. 1 78050341 . C . . NT END=78097534;NT GT ./. 1 78099091 . C . . NT END=78105133;NT GT ./. 1 78105067 . CA C 12 rn VT=DEL;SST=Single;DP=35;NP=3;Gene=ZZZ3/NM_015534.5/1;CC=c.-52+66delT;VC=Intron;Gene=ZZZ3/NM_001308237.1/0;CC=c.23+66delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CA,I,C:35:30:3:5:27,3,5:821,101,154:0.00,7.29,11.76:0.00,6.26,9.49:0.00,1.03,2.27:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.83:60,60,60:11.7,0.0,0.0:0,0,0:0,0,0:62,54,46:79,96,100:30,12,43:-,NM_015534.4(ZZZ3) c.-52+66delT:-,NOT_FOUND:-,NOT_FOUND 1 78105157 . T . . NT END=78163001;NT GT ./. 1 78163160 . C . . NT END=78163547;NT GT ./. 1 78163617 . C . . NT END=78167053;NT GT ./. 1 78163753 rs371568762 CT C 9 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;Gene=USP33/NM_015017.4/1;CC=c.2603-138delA;VC=Intron;Gene=USP33/NM_201624.2/0;CC=c.2510-138delA;VC=Intron;DM=USP33/DUSP;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:CT,T,C:10:0:0:3:6,1,3:159,13,96:0.00,0.55,8.54:0.00,0.00,0.00:0.00,0.55,8.54:0.00,0.00,0.62:0.00,0.00,0.00:0.00,0.00,0.62:60,60,60:33.2,24.0,8.0:0,0,0:0,0,0:132,107,46:17,41,103:15,0,8:-,NM_015017.4(USP33) c.2603-138delA:-,NOT_FOUND:-,NOT_FOUND 1 78167157 . C . . NT END=78177336;NT GT ./. 1 78177213 rs66475824 TAC T 45 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=282;PC=0.001;Gene=USP33/NM_015017.4/1;CC=c.2499+217_2499+218delGT;VC=Intron;Gene=USP33/NM_201624.2/0;CC=c.2406+217_2406+218delGT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAC,T:25:29:0:20:11,14:299,638:0.00,44.72:0.00,39.83:0.00,4.89:0.00,1.00:0.00,1.00:0.00,0.91:60,60:22.8,30.4:0,6:0,0:118,51:30,96:4,27:-,NM_015017.4(USP33) c.2499+217_2499+218delGT:-,NOT_FOUND:-,NOT_FOUND 1 78177541 . C . . NT END=78178884;NT GT ./. 1 78178967 . C . . NT END=78180298;NT GT ./. 1 78178976 rs6603958 T A 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.5074,A/0.4926;PC=0.186;Gene=USP33/NM_015017.4/1;CC=c.2309-10A>T;VC=Intron;Gene=USP33/NM_201624.2/0;CC=c.2216-10A>T;VC=Intron;Gene=USP33/NM_201626.2/0;CC=c.2285-10A>T;VC=Intron;DM=USP33/DUSP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:44:28:0:1:16,28:524,912:47.51,0.00:19.74,0.00:27.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,14.3:0,0:0,0:95,88:50,55:17,26:NM_015017.4(USP33) c.2309-10A>T,-:0.42,-:0.428033,- 1 78180469 . C . . NT END=78181426;NT GT ./. 1 78181554 . C . . NT END=78183551;NT GT ./. 1 78183733 . C . . NT END=78184280;NT GT ./. 1 78183861 rs11162378 G A 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5092,A/0.4908;Gene=USP33/NM_015017.4/1;CC=c.1831-129C>T;VC=Intron;Gene=USP33/NM_201624.2/0;CC=c.1738-129C>T;VC=Intron;Gene=USP33/NM_201626.2/0;CC=c.1807-129C>T;VC=Intron;DM=USP33/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,G:13:0:0:0:3,10:97,345:8.08,0.00:0.00,0.00:8.08,0.00:0.58,0.00:0.00,0.00:0.58,0.00:60,60:37.3,4.8:0,0:0,0:108,104:43,46:18,14:NM_015017.4(USP33) c.1831-129C>T,-:0.42,-:NOT_FOUND,- 1 78184325 rs12142671 A G 77 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.6444,G/0.3556;PC=1.000;Gene=USP33/NM_015017.4/1;CC=c.1786T>C;ProtCh=p.L596=;VC=Silent;Gene=USP33/NM_201624.2/0;CC=c.1693T>C;ProtCh=p.L565=;VC=Silent;Gene=USP33/NM_201626.2/0;CC=c.1762T>C;ProtCh=p.L588=;VC=Silent;DM=USP33/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:28:0:0:19,23:557,783:0.00,76.75:0.00,34.36:0.00,42.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,37.6:0,0:0,0:92,92:45,58:31,24:-,NM_015017.4(USP33) c.1786T>C (p.(=)):-,0.29:-,0.299923 1 78184327 . C . . NT END=78186001;NT GT ./. 1 78185906 . G A 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;Gene=USP33/NM_015017.4/1;CC=c.1784+951C>T;VC=Intron;Gene=USP33/NM_201624.2/0;CC=c.1691+951C>T;VC=Intron;Gene=USP33/NM_201626.2/0;CC=c.1760+951C>T;VC=Intron;DM=USP33/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:A,G:35:31:0:0:5,30:101,892:6.32,0.00:6.72,0.00:-0.40,0.00:0.78,0.00:0.97,0.00:0.66,0.00:60,60:121.4,21.3:0,0:0,0:70,20:80,130:11,13:NM_015017.4(USP33) c.1784+951C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 78186272 . C . . NT END=78186856;NT GT ./. 1 78186891 . C . . NT END=78187515;NT GT ./. 1 78187611 . C . . NT END=78187708;NT GT ./. 1 78187882 . C . . NT END=78189015;NT GT ./. 1 78189129 . C . . NT END=78191306;NT GT ./. 1 78191448 . C . . NT END=78193979;NT GT ./. 1 78194398 . C . . NT END=78195544;NT GT ./. 1 78195624 . C . . NT END=78196302;NT GT ./. 1 78196417 . C . . NT END=78200031;NT GT ./. 1 78200005 rs3767037 T C 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.5088,C/0.4912;Gene=USP33/NM_015017.4/1;CC=c.617+27A>G;VC=Intron;Gene=USP33/NM_201624.2/0;CC=c.524+27A>G;VC=Intron;Gene=USP33/NM_201626.2/0;CC=c.617+27A>G;VC=Intron;DM=USP33/UCH;DM=USP33/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:28:0:0:20,14:662,453:65.74,0.00:38.02,0.00:27.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,21.9:0,0:0,0:32,48:115,102:13,23:NM_015017.4(USP33) c.617+27A>G,-:0.42,-:0.430005,- 1 78200102 . C . . NT END=78201740;NT GT ./. 1 78201745 rs2296227 G T 57 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.5106,T/0.4894;PC=0.984;Gene=USP33/NM_015017.4/1;CC=c.543C>A;ProtCh=p.A181=;VC=Silent;Gene=USP33/NM_201624.2/0;CC=c.450C>A;ProtCh=p.A150=;VC=Silent;Gene=USP33/NM_201626.2/0;CC=c.543C>A;ProtCh=p.A181=;VC=Silent;DM=USP33/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:20:0:0:10,18:340,565:0.00,57.14:0.00,25.92:0.00,31.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,41.7:0,0:0,0:67,50:75,95:28,21:-,NM_015017.4(USP33) c.543C>A (p.(=)):-,0.42:-,0.428571 1 78201844 . C . . NT END=78204949;NT GT ./. 1 78205103 . C . . NT END=78206561;NT GT ./. 1 78206625 . C . . NT END=78207060;NT GT ./. 1 78207115 . C . . NT END=78207301;NT GT ./. 1 78207434 . C . . NT END=78245340;NT GT ./. 1 78239759 rs58994981 C T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9561,T/0.04393;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:3:0:0:3,2:103,69:0.00,6.39:0.00,-0.67:0.00,7.06:0.00,0.46:0.00,0.80:0.00,0.70:60,60:6.7,34.5:0,0:0,0:14,116:136,35:8,9:-,NM_001270384.1(FAM73A) c.-32-u5550C>T:-,0.04:-,NOT_FOUND 1 78240117 rs2031342 T C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5124,C/0.4876;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:16:0:0:11,7:373,222:37.32,0.00:38.15,0.00:-0.82,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,60:42.6,3.1:0,0:0,0:16,138:134,13:13,8:NM_001270384.1(FAM73A) c.-32-u5192T>C,-:0.42,-:NOT_FOUND,- 1 78245422 . G . . NT END=78245477;NT GT ./. 1 78245878 . G . . NT END=78248550;NT GT ./. 1 78248570 . G . . NT END=78248922;NT GT ./. 1 78249037 . G . . NT END=78267015;NT GT ./. 1 78267194 . G . . NT END=78268954;NT GT ./. 1 78269092 . G . . NT END=78272659;NT GT ./. 1 78269207 rs7525870 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7678,A/0.2322;Gene=FAM73A/NM_001270384.1/1;CC=c.510+116G>A;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.510+116G>A;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:12:0:0:0:5,7:158,233:14.65,0.00:0.00,0.00:14.65,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:31.6,46.6:0,0:0,0:124,102:26,49:1,31:NM_001270384.1(FAM73A) c.510+116G>A,-:0.28,-:NOT_FOUND,- 1 78272787 . G . . NT END=78279418;NT GT ./. 1 78272902 rs4949822 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4275,A/0.5725;Gene=FAM73A/NM_001270384.1/1;CC=c.637+116G>A;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.637+116G>A;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:8:0:0:0:5,3:172,98:17.29,0.00:0.00,0.00:17.29,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:38.0,3.0:0,0:0,0:41,107:109,43:36,17:NM_001270384.1(FAM73A) c.637+116G>A,-:0.64,-:NOT_FOUND,- 1 78276977 rs4121165 G A 83 nt VT=SNV;PN=G;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.7921,A/0.2079;PC=1.000;Gene=FAM73A/NM_001270384.1/1;CC=c.638-2442G>A;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.638-2442G>A;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:67:40:0:0:28,37,2:887,1109,38:82.76,0.00,1.41:53.99,0.00,-0.19:28.77,0.00,1.60:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,52:35.0,6.4,100.5:0,0,0:0,0,0:74,75,140:76,76,10:48,37,8:NM_001270384.1(FAM73A) c.638-2442G>A,-:0.25,-:NOT_FOUND,- 1 78277595 rs2051160 T C 309 nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.006789,C/0.9932;NP=81;PC=0.008;Gene=FAM73A/NM_001270384.1/1;CC=c.638-1824T>C;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.638-1824T>C;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:93:38:0:0:1,90,2:13,2682,17:0.21,309.29,0.27:0.00,90.03,0.12:0.21,219.25,0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:125.0,36.1,40.0:0,0,0:0,0,0:21,84,38:130,60,112:0,26,32:NM_001270384.1(FAM73A) c.638-1824T>C,NM_001270384.1(FAM73A) c.638-1824T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 78279553 . G . . NT END=78280792;NT GT ./. 1 78280917 . G . . NT END=78308991;NT GT ./. 1 78281002 rs11162386 T C 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.4173,C/0.5827;PC=0.003;Gene=FAM73A/NM_001270384.1/1;CC=c.895+86T>C;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.895+86T>C;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:6:0:0:17,10:497,312:50.07,0.00:8.29,0.00:41.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:30.1,26.5:0,2:0,0:121,112:30,37:16,8:NM_001270384.1(FAM73A) c.895+86T>C,-:0.65,-:NOT_FOUND,- 1 78309093 . G . . NT END=78324622;NT GT ./. 1 78312788 rs7417104 A G 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.107,G/0.893;PC=0.875;Gene=FAM73A/NM_001270384.1/1;CC=c.996+3696A>G;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.996+3696A>G;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:8:0:0:9:303:34.59:28.09:6.50:1.00:1.00:1.00:60:36.2:0:0:40:111:15:NM_001270384.1(FAM73A) c.996+3696A>G,NM_001270384.1(FAM73A) c.996+3696A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 78313494 rs10873956 G A 163 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.127,A/0.873;PC=0.008;Gene=FAM73A/NM_001270384.1/1;CC=c.996+4402G>A;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.996+4402G>A;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:24:0:0:42:1427:162.70:69.99:92.71:1.00:1.00:1.00:60:39.3:0:0:91:56:33:NM_001270384.1(FAM73A) c.996+4402G>A,NM_001270384.1(FAM73A) c.996+4402G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 78314080 rs6695986 A G 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.3606,G/0.6394;PC=0.705;Gene=FAM73A/NM_001270384.1/1;CC=c.996+4988A>G;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.996+4988A>G;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:17:0:0:19,15:601,491:0.00,46.13:0.00,30.64:0.00,15.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.6,49.3:0,0:0,0:105,105:46,46:24,36:-,NM_001270384.1(FAM73A) c.996+4988A>G:-,0.68:-,NOT_FOUND 1 78314263 rs7410814 G A 159 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.002;Gene=FAM73A/NM_001270384.1/1;CC=c.996+5171G>A;VC=Intron;Gene=FAM73A/NM_198549.3/0;CC=c.996+5171G>A;VC=Intron;DM=FAM73A/DUF2217;DM=FAM73A/DUF2217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:31:0:0:42:1387:158.69:100.94:57.76:1.00:1.00:1.00:60:41.1:0:0:47:100:30:NM_001270384.1(FAM73A) c.996+5171G>A,NM_001270384.1(FAM73A) c.996+5171G>A:1,1:NOT_FOUND,NOT_FOUND 1 78324742 . G . . NT END=78324998;NT GT ./. 1 78325072 . G . . NT END=78325724;NT GT ./. 1 78325812 . G . . NT END=78326908;NT GT ./. 1 78327008 . G . . NT END=78329578;NT GT ./. 1 78329714 . G . . NT END=78332022;NT GT ./. 1 78332077 . G . . NT END=78338685;NT GT ./. 1 78338806 . G . . NT END=78340530;NT GT ./. 1 78340750 . G . . NT END=78381791;NT GT ./. 1 78381819 . G . . NT END=78383250;NT GT ./. 1 78383160 rs112597766 AT A 23 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=AT/0.9056,A/0.09445;NP=130;PC=0.928;Gene=NEXN/NM_001172309.1/0;CC=c.28-479delT;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.28-85delT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:15:15:0:8:7,8:230,238:0.00,23.11:0.00,23.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.9,26.9:0,0:0,0:75,20:76,124:17,16:-,NM_144573.3(NEXN) c.28-90delT:-,0.08:-,NOT_FOUND 1 78383443 . G . . NT END=78383644;NT GT ./. 1 78383467 rs1749913 G A 209 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.2362,A/0.7638;PC=0.081;Gene=NEXN/NM_001172309.1/0;CC=c.28-178G>A;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.219+25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:A:57:26:0:0:57:1822:209.24:76.65:132.60:1.00:1.00:1.00:60:43.6:0:0:103:47:28:NM_144573.3(NEXN) c.219+25G>A,NM_144573.3(NEXN) c.219+25G>A:0.79,0.79:0.825503,0.825503 1 78383724 . G . . NT END=78383809;NT GT ./. 1 78383959 . G . . NT END=78390872;NT GT ./. 1 78390915 . G . . NT END=78392098;NT GT ./. 1 78391121 rs41305872 C T 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9858,T/0.01418;Gene=NEXN/NM_001172309.1/0;CC=c.297+207C>T;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.489+207C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:9:0:0:0:2,7:68,231:0.00,24.37:0.00,0.00:0.00,24.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,60.4:0,0:0,0:130,55:20,95:13,37:-,NM_144573.3(NEXN) c.489+207C>T:-,0.02:-,NOT_FOUND 1 78392297 . G . . NT END=78392400;NT GT ./. 1 78392446 rs1166698 G A 166 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=106;DB;DBA=in-clinvar;PAF=G/0.8492,A/0.1508;PC=1.000;Gene=NEXN/NM_001172309.1/0;CC=c.541G>A;ProtCh=p.G181R;VC=Missense;Gene=NEXN/NM_144573.3/1;CC=c.733G>A;ProtCh=p.G245R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:106:67:0:0:53,53:1723,1608:165.66,0.00:84.85,0.00:80.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,3.5:0,0:0,0:83,83:67,66:41,39:NM_144573.3(NEXN) c.733G>A (p.Gly245Arg),-:0.2,-:0.15781,- 1 78392578 . G . . NT END=78395000;NT GT ./. 1 78392867 rs1166699 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3355,T/0.6645;PC=0.002;Gene=NEXN/NM_001172309.1/0;CC=c.672+290C>T;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.864+290C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,T:5:0:0:0:1,4:25,136:0.00,14.42:0.00,0.00:0.00,14.42:0.00,0.96:0.00,0.00:0.00,0.96:60,60:119.0,36.2:0,0:0,0:119,100:31,51:0,14:-,NM_144573.3(NEXN) c.864+290C>T:-,0.71:-,NOT_FOUND 1 78393287 rs58132637 C G 9 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1625,G/0.8375;NP=186;PC=0.004;Gene=NEXN/NM_001172309.1/0;CC=c.672+710C>G;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.864+710C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,G:4:2:0:0:1,3:32,86:0.00,9.04:0.00,7.80:0.00,1.24:0.00,0.85:0.00,0.95:0.00,0.95:60,60:13.0,67.7:0,2:0,0:126,69:25,81:0,32:-,NM_144573.3(NEXN) c.864+710C>G:-,NOT_FOUND:-,NOT_FOUND 1 78393289 . G C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;PC=0.005;Gene=NEXN/NM_001172309.1/0;CC=c.672+712G>C;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.864+712G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,G:4:2:0:0:2,2:68,61:6.55,0.00:7.15,0.00:-0.60,0.00:0.94,0.00:0.79,0.00:0.79,0.00:60,60:69.5,38.5:2,0:0,0:49,115:101,35:21,12:NM_144573.3(NEXN) c.864+712G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 78395190 . G . . NT END=78398966;NT GT ./. 1 78399165 . G . . NT END=78401507;NT GT ./. 1 78399207 rs4483454 C G 62 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.3355,G/0.6645;Gene=NEXN/NM_001172309.1/0;CC=c.1059+43C>G;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.1251+43C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:7:0:0:17,20:544,633:0.00,61.71:0.00,6.23:0.00,55.48:0.00,1.00:0.00,0.99:0.00,1.00:60,60:37.8,40.9:0,0:0,0:114,111:37,40:33,24:-,NM_144573.3(NEXN) c.1251+43C>G:-,0.71:-,0.718993 1 78399212 rs41312654 T C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.9056,C/0.09445;PC=0.001;Gene=NEXN/NM_001172309.1/0;CC=c.1059+48T>C;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.1251+48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:7:0:0:14,20:478,622:44.48,0.00:6.61,0.00:37.87,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:45.2,39.5:0,0:0,0:91,119:59,32:42,21:NM_144573.3(NEXN) c.1251+48T>C,-:0.08,-:0.09941,- 1 78401730 . G . . NT END=78407707;NT GT ./. 1 78407509 rs150690072 C CT 7 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9056,CT/0.09445;NP=20;Gene=NEXN/NM_001172309.1/0;CC=c.1282-198dupT;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.1474-198dupT;VC=Intron;DM=NEXN/I-set;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,CT:8:8:3:0:5,3:154,76:0.00,6.73:0.00,6.73:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:3.8,62.0:0,0:0,0:29,66:122,84:1,52:-,NM_144573.3(NEXN) c.1474-199_1474-198insT:-,0.08:-,NOT_FOUND 1 78407894 . G . . NT END=78408145;NT GT ./. 1 78408055 rs374889046 TA T 36 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=TA/0.9429,T/0.05711;NP=101;Gene=NEXN/NM_001172309.1/0;CC=c.1468-80delA;VC=Intron;Gene=NEXN/NM_144573.3/1;CC=c.1660-80delA;VC=Intron;DM=NEXN/I-set;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:28:18:1:12:15,1,12:461,31,380:0.00,1.90,35.67:0.00,1.97,17.20:0.00,-0.07,18.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:16.7,9.0,3.5:0,0,0:0,0,0:53,9,74:98,142,76:35,0,32:-,NM_144573.3(NEXN) c.1660-90delA:-,NOT_FOUND:-,NOT_FOUND 1 78408599 . C . . NT END=78413198;NT GT ./. 1 78413238 . C . . NT END=78413590;NT GT ./. 1 78414310 . CA C 22 idl,rn VT=DEL;SST=Single;DP=67;NP=17;PC=1.000;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.*140delT;VC=3UTR;Gene=FUBP1/NM_003902.4/1;CC=c.*140delT;VC=3UTR;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,CA,I,C:60:48:10:18:9,34,8,9:183,1136,296,434:12.86,0.00,18.18,21.82:-1.72,0.00,13.48,16.97:14.58,0.00,4.70,4.85:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.93:60,60,60,60:91.2,26.4,61.2,39.7:3,0,3,5:0,0,0,0:87,88,78,80:64,62,60,70:28,41,43,21:-,NM_003902.3(FUBP1) c.*123T[17]:-,NOT_FOUND:-,NOT_FOUND 1 78414460 . C . . NT END=78414839;NT GT ./. 1 78414986 . C . . NT END=78420939;NT GT ./. 1 78421015 . C . . NT END=78422256;NT GT ./. 1 78422108 rs1007335 T C 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9489,C/0.05112;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.1768+149A>G;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.1705+149A>G;VC=Intron;DM=FUBP1/DUF1897 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:C,T:7:7:0:0:6,1:179,22:19.51,0.00:19.51,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:85.3,0.0:0,0:0,0:29,123:121,27:18,0:NM_003902.3(FUBP1) c.1705+149A>G,-:0.05,-:NOT_FOUND,- 1 78422386 . C . . NT END=78425868;NT GT ./. 1 78425949 . C . . NT END=78426028;NT GT ./. 1 78426181 . C . . NT END=78428454;NT GT ./. 1 78426284 rs2296454 T C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6643,C/0.3357;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.1408-104A>G;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.1345-104A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:5:0:0:13,14:416,384:39.74,0.00:5.79,0.00:33.94,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:43.1,32.0:0,0:0,0:107,100:42,50:13,24:NM_003902.3(FUBP1) c.1345-104A>G,-:0.29,-:NOT_FOUND,- 1 78428616 . C . . NT END=78429258;NT GT ./. 1 78429084 rs3767024 C A 23 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6645,A/0.3355;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.1246+175G>T;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.1183+175G>T;VC=Intron;DM=FUBP1/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:6:0:0:7:200:23.28:21.96:1.32:1.00:1.00:1.00:60:70.1:0:0:62:88:19:NM_003902.3(FUBP1) c.1183+175G>T,NM_003902.3(FUBP1) c.1183+175G>T:0.29,0.29:NOT_FOUND,NOT_FOUND 1 78429401 . C . . NT END=78429746;NT GT ./. 1 78429848 . C . . NT END=78429938;NT GT ./. 1 78430042 . C . . NT END=78430330;NT GT ./. 1 78430433 . C . . NT END=78430554;NT GT ./. 1 78430654 . C . . NT END=78430752;NT GT ./. 1 78430689 rs397707505 A AG 258 nt VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3442;PC=0.007;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.700-37dupC;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.637-37dupC;VC=Intron;DM=FUBP1/KH_1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A,AG:75:53:73:0:2,73:60,2273:0.00,258.10:0.00,156.27:0.00,101.83:0.00,1.00:0.00,1.00:0.00,1.00:60,70:4.0,4.5:0,0:0,0:148,56:2,95:0,45:NM_003902.3(FUBP1) c.637-37_637-36insC,NM_003902.3(FUBP1) c.637-37_637-36insC:1,1:NOT_FOUND,NOT_FOUND 1 78430916 . C . . NT END=78432377;NT GT ./. 1 78431192 rs74092339 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9489,T/0.05112;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.537-277G>A;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.474-277G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,T:7:0:0:0:2,5:55,150:0.00,15.57:0.00,0.00:0.00,15.57:0.00,0.98:0.00,0.00:0.00,0.98:60,60:34.5,49.0:0,0:0,0:94,123:56,26:34,17:-,NM_003902.3(FUBP1) c.474-277G>A:-,0.05:-,NOT_FOUND 1 78432436 . C . . NT END=78432567;NT GT ./. 1 78432503 rs3736909 G C 33 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.6643,C/0.3357;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.478+65C>G;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.415+65C>G;VC=Intron;DM=FUBP1/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:29:20:0:0:11,18:364,508:33.31,0.00:24.17,0.00:9.15,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:54.6,10.5:4,4:0,0:114,64:33,85:16,53:NM_003902.3(FUBP1) c.415+65C>G,-:0.29,-:0.278703,- 1 78432506 rs543879083 T TA 16 sb,rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=105;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.478+61dupT;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.415+61dupT;VC=Intron;DM=FUBP1/KH_1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:A,T,TA,D:27:18:6:3:1,18,6,2:10,505,189,98:0.00,0.00,15.88,4.49:-0.17,0.00,14.34,3.51:0.17,0.00,1.54,0.98:0.00,0.00,0.91,0.00:0.00,0.00,0.97,0.00:0.00,0.00,0.90,0.00:60,60,60,60:40.0,22.2,49.2,26.0:0,0,0,1:0,0,0,0:26,91,66,68:125,59,85,82:0,37,47,17:-,NM_003902.3(FUBP1) c.415+61_415+62insT:-,NOT_FOUND:-,NOT_FOUND 1 78432640 . C . . NT END=78432732;NT GT ./. 1 78432647 rs200233459 G GA 8 rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.005;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.407-9_407-8insT;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.344-9_344-8insT;VC=Intron;DM=FUBP1/KH_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:A,G,GA,D:41:25:4:1:1,35,4,1:11,1092,120,33:-0.11,0.00,8.31,1.79:-0.20,0.00,2.88,1.97:0.08,0.00,5.43,-0.17:0.00,0.00,0.58,0.00:0.00,0.00,0.83,0.00:0.00,0.00,0.82,0.00:60,60,60,60:66.0,25.3,3.2,0.0:0,0,0,0:0,0,0,0:77,77,45,69:74,71,104,82:0,26,17,0:-,NM_003902.3(FUBP1) c.344-9_344-8insT:-,NOT_FOUND:-,NOT_FOUND 1 78432786 . C . . NT END=78433310;NT GT ./. 1 78433351 . C . . NT END=78433848;NT GT ./. 1 78433801 rs74092340 T C 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.9028,A/.,C/0.09724;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.313+48A>G;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.250+48A>G;VC=Intron;DM=FUBP1/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:20:0:0:16,7:554,229:56.90,0.00:40.39,0.00:16.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,0.0:0,0:0,0:36,51:100,98:32,18:NM_003902.3(FUBP1) c.250+48A>G,-:0.08,-:0.105328,- 1 78433888 . C . . NT END=78434705;NT GT ./. 1 78434769 . C . . NT END=78435608;NT GT ./. 1 78435700 . C . . NT END=78444568;NT GT ./. 1 78435701 . T TA 9 idl,rn VT=INS;SST=Single;DP=28;NP=1;PC=1.000;Gene=FUBP1/NR_130152.1/0;VC=NonCoding;Gene=FUBP1/NM_001303433.1/0;CC=c.121-3dupT;VC=Intron;Gene=FUBP1/NM_003902.4/1;CC=c.121-3dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:T,TA,D:26:17:4:5:19,4,3:607,115,153:0.00,8.76,6.29:0.00,4.05,3.69:0.00,4.72,2.60:0.00,0.66,0.00:0.00,0.86,0.00:0.00,0.92,0.00:60,60,60:13.5,14.0,50.0:0,0,2:0,0,0:85,58,119:58,91,25:29,22,13:-,NM_003902.3(FUBP1) c.121-3_121-2insT:-,NOT_FOUND:-,NOT_FOUND 1 78444689 . G . . NT END=78470794;NT GT ./. 1 78470634 rs41309165 C T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9489,T/0.05112;PC=0.392;Gene=DNAJB4/NM_001317100/0;CC=c.92-8101C>T;VC=Intron;Gene=DNAJB4/NM_001317101/0;CC=c.-134-8101C>T;VC=Intron;Gene=DNAJB4/NM_001317102/0;CC=c.-134-8101C>T;VC=Intron;Gene=DNAJB4/NM_001317099/0;CC=c.-31-130C>T;VC=Intron;Gene=DNAJB4/NM_001317103/0;CC=c.-161C>T;VC=5UTR;Gene=DNAJB4/NM_007034.3/1;CC=c.-161C>T;VC=5UTR;DM=DNAJB4/DnaJ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,T:20:20:0:0:5,15:168,457:0.00,47.96:0.00,47.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.2,50.4:0,0:0,0:20,40:131,111:8,25:-,NM_007034.3(DNAJB4) c.-159-u2C>T:-,0.05:-,NOT_FOUND 1 78471006 . G . . NT END=78478734;NT GT ./. 1 78471049 rs72506830 CT C 12 rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=275;PC=0.650;Gene=DNAJB4/NM_001317100/0;CC=c.92-7674delT;VC=Intron;Gene=DNAJB4/NM_001317101/0;CC=c.-134-7674delT;VC=Intron;Gene=DNAJB4/NM_001317102/0;CC=c.-134-7674delT;VC=Intron;Gene=DNAJB4/NM_001317099/0;CC=c.211+56delT;VC=Intron;Gene=DNAJB4/NM_001317103/0;CC=c.211+56delT;VC=Intron;Gene=DNAJB4/NM_007034.3/1;CC=c.211+56delT;VC=Intron;DM=DNAJB4/DnaJ;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:CT,C:39:9:0:5:34,5:1130,160:0.00,11.90:0.00,-0.36:0.00,12.26:0.00,0.77:0.00,0.65:0.00,0.97:60,60:10.9,6.2:0,0:0,0:102,132:48,19:36,2:-,NM_007034.3(DNAJB4) c.211+45delT:-,NOT_FOUND:-,NOT_FOUND 1 78471060 rs74412706 T TC 71 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.1194,TC/0.8806;DB;DBA=NA;PAF=NA;NP=1690;PC=0.004;Gene=DNAJB4/NM_001317100/0;CC=c.92-7675_92-7674insC;VC=Intron;Gene=DNAJB4/NM_001317101/0;CC=c.-134-7675_-134-7674insC;VC=Intron;Gene=DNAJB4/NM_001317102/0;CC=c.-134-7675_-134-7674insC;VC=Intron;Gene=DNAJB4/NM_001317099/0;CC=c.211+55_211+56insC;VC=Intron;Gene=DNAJB4/NM_001317103/0;CC=c.211+55_211+56insC;VC=Intron;Gene=DNAJB4/NM_007034.3/1;CC=c.211+55_211+56insC;VC=Intron;DM=DNAJB4/DnaJ;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,T,TC:33:6:22:0:4,8,21:117,244,721:9.49,0.00,71.08:2.39,0.00,4.88:7.09,0.00,66.20:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:46.5,11.2,3.5:0,0,1:0,0,0:52,141,91:97,9,60:28,2,23:-,NM_007034.3(DNAJB4) c.211+55_211+56insC:-,NOT_FOUND:-,NOT_FOUND 1 78478675 rs3790586 G A 99 nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.3341,A/0.6659;Gene=DNAJB4/NM_001317100/0;CC=c.92-60G>A;VC=Intron;Gene=DNAJB4/NM_001317101/0;CC=c.-134-60G>A;VC=Intron;Gene=DNAJB4/NM_001317102/0;CC=c.-134-60G>A;VC=Intron;Gene=DNAJB4/NM_001317099/0;CC=c.212-60G>A;VC=Intron;Gene=DNAJB4/NM_001317103/0;CC=c.212-3023G>A;VC=Intron;Gene=DNAJB4/NM_007034.3/1;CC=c.212-60G>A;VC=Intron;DM=DNAJB4/DnaJ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:51:0:0:32,24:1004,835:98.98,0.00:83.27,0.00:15.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,4.6:0,0:0,0:40,40:107,110:24,29:NM_007034.3(DNAJB4) c.212-60G>A,-:0.65,-:NOT_FOUND,- 1 78479304 . G . . NT END=78481697;NT GT ./. 1 78481640 rs1039863 G A 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.3339,A/0.6661;PC=0.010;Gene=DNAJB4/NM_001317100/0;CC=c.661-58G>A;VC=Intron;Gene=DNAJB4/NM_001317101/0;CC=c.436-58G>A;VC=Intron;Gene=DNAJB4/NM_001317102/0;CC=c.436-58G>A;VC=Intron;Gene=DNAJB4/NM_001317099/0;CC=c.781-58G>A;VC=Intron;Gene=DNAJB4/NM_001317103/0;CC=c.212-58G>A;VC=Intron;Gene=DNAJB4/NM_007034.3/1;CC=c.781-58G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:37:0:0:26,17:734,537:73.06,0.00:51.14,0.00:21.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,13.2:0,0:0,0:38,49:112,100:21,24:NM_007034.3(DNAJB4) c.781-58G>A,-:0.71,-:NOT_FOUND,- 1 78481932 . A . . NT END=78510760;NT GT ./. 1 78510544 rs6675105 T G 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.268,G/0.732 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:264:31.08:31.08:0.00:1.00:1.00:0.00:60:40.4:0:0:20:131:19:NM_017655.4(GIPC2) c.-190-u1045T>G,NM_017655.4(GIPC2) c.-190-u1045T>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 78510779 . G . . NT END=78511237;NT GT ./. 1 78512019 . G . . NT END=78534731;NT GT ./. 1 78534616 rs505301 T C 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.76,C/0.24;Gene=GIPC2/NM_001304725.1/1;CC=c.19-11743T>C;VC=Intron;Gene=GIPC2/NM_017655.5/0;CC=c.241-11743T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:12,11:343,327:33.08,0.00:31.44,0.00:1.65,0.00:1.00,0.00:1.00,0.00:0.68,0.00:60,60:37.3,6.2:0,0:0,0:38,75:112,76:24,47:NM_017655.4(GIPC2) c.241-11743T>C,-:0.28,-:NOT_FOUND,- 1 78534811 . G . . NT END=78546358;NT GT ./. 1 78546545 . G . . NT END=78560635;NT GT ./. 1 78546703 rs628451 G A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1108,A/0.8892;Gene=GIPC2/NM_001304725.1/1;CC=c.204+159G>A;VC=Intron;Gene=GIPC2/NM_017655.5/0;CC=c.426+159G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:32.8:0:0:134:16:6:NM_017655.4(GIPC2) c.426+159G>A,NM_017655.4(GIPC2) c.426+159G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 78557514 rs631045 G A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7616,A/0.2384;PC=1.000;Gene=GIPC2/NM_001304725.1/1;CC=c.205-3122G>A;VC=Intron;Gene=GIPC2/NM_017655.5/0;CC=c.427-3122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,G:7:6:0:0:3,4:77,140:7.03,0.00:3.66,0.00:3.37,0.00:0.69,0.00:0.95,0.00:0.83,0.00:60,60:80.3,0.0:0,0:0,0:87,60:63,91:14,17:NM_017655.4(GIPC2) c.427-3122G>A,-:0.28,-:NOT_FOUND,- 1 78557608 rs630640 A G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7618,G/0.2382;PC=1.000;Gene=GIPC2/NM_001304725.1/1;CC=c.205-3028A>G;VC=Intron;Gene=GIPC2/NM_017655.5/0;CC=c.427-3028A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,G:11:9:0:0:5,6:138,197:0.00,19.28:0.00,13.57:0.00,5.71:0.00,0.98:0.00,1.00:0.00,0.98:60,60:48.8,68.3:0,0:0,0:11,70:140,81:5,34:-,NM_017655.4(GIPC2) c.427-3028A>G:-,0.28:-,NOT_FOUND 1 78557664 rs630245 A C 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.7618,C/0.2382;PC=1.000;Gene=GIPC2/NM_001304725.1/1;CC=c.205-2972A>C;VC=Intron;Gene=GIPC2/NM_017655.5/0;CC=c.427-2972A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:21:0:0:11,15:335,505:0.00,49.97:0.00,26.64:0.00,23.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.4,48.1:0,0:0,0:26,38:125,91:22,14:-,NM_017655.4(GIPC2) c.427-2972A>C:-,0.28:-,NOT_FOUND 1 78557911 rs481199 G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7618,A/0.2382;Gene=GIPC2/NM_001304725.1/1;CC=c.205-2725G>A;VC=Intron;Gene=GIPC2/NM_017655.5/0;CC=c.427-2725G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,G,T:7:0:0:0:4,2,1:130,69,18:13.20,0.00,1.31:0.00,0.00,0.00:13.20,0.00,1.31:0.90,0.00,0.00:0.00,0.00,0.00:0.90,0.00,0.00:60,60,60:53.5,23.5,99.0:0,0,0:0,0,0:80,95,56:70,55,93:12,11,0:NM_017655.4(GIPC2) c.427-2725G>A,-:0.28,-:NOT_FOUND,- 1 78560583 rs565164 G A 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7618,A/0.2382;PC=0.006;Gene=GIPC2/NM_001304725.1/1;CC=c.205-53G>A;VC=Intron;Gene=GIPC2/NM_017655.5/0;CC=c.427-53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:20:0:0:13,10:390,349:38.32,0.00:31.98,0.00:6.33,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:36.8,7.1:0,0:0,0:68,37:82,114:55,20:NM_017655.4(GIPC2) c.427-53G>A,-:0.28,-:NOT_FOUND,- 1 78560817 . G . . NT END=78585076;NT GT ./. 1 78585184 . G . . NT END=78591564;NT GT ./. 1 78591647 . G . . NT END=78601275;NT GT ./. 1 78601415 rs34561240 A G 125 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.973,G/0.02696;PC=0.979;Gene=GIPC2/NM_001304725.1/1;CC=c.714A>G;ProtCh=p.R238=;VC=Silent;Gene=GIPC2/NM_017655.5/0;CC=c.936A>G;ProtCh=p.R312=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:87:42:0:0:47,40:1508,1323:0.00,125.32:0.00,51.20:0.00,74.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,35.9:0,0:0,0:101,64:49,84:24,34:-,NM_017655.4(GIPC2) c.936A>G (p.(=)):-,0.02:-,0.028756 1 78601428 . T . . NT END=78958428;NT GT ./. 1 78761453 rs6670364 A G 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2574,G/0.7426;PC=0.015;Gene=MGC27382/NR_027310.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:5:0:0:3,2:99,70:0.00,6.49:0.00,6.49:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:0.0,42.0:0,0:0,0:96,61:55,89:32,19:-,NR_027310.2(MGC27382) n.705+43892A>G:-,0.78:-,NOT_FOUND 1 78762749 rs11162452 A G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6645,G/0.3355;Gene=MGC27382/NR_027310.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:7:0:0:1:2,5:71,156:0.00,16.16:0.00,0.00:0.00,16.16:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,47.0:0,0:0,0:30,59:120,92:8,23:-,NR_027310.2(MGC27382) n.705+45188A>G:-,0.37:-,NOT_FOUND 1 78959227 . G . . NT END=78963558;NT GT ./. 1 78963630 . G . . NT END=79002090;NT GT ./. 1 79002373 . C . . NT END=79093600;NT GT ./. 1 79094079 . G . . NT END=79094635;NT GT ./. 1 79094593 rs273257 A G 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.00639,G/0.9936,T/.;NP=3447;Gene=IFI44L/NM_006820.3/1;CC=c.479-43A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A,G:22:17:0:0:1,21:11,674:0.00,75.82:0.00,51.61:0.00,24.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:95.0,42.8:0,0:0,0:9,48:142,103:0,23:NM_006820.2(IFI44L) c.479-43A>G,NM_006820.2(IFI44L) c.479-43A>G:0.99,0.99:0.987533,0.987533 1 79094685 . G . . NT END=79095404;NT GT ./. 1 79095601 . G . . NT END=79101021;NT GT ./. 1 79101175 . G . . NT END=79102716;NT GT ./. 1 79102889 . G . . NT END=79106705;NT GT ./. 1 79106807 . G . . NT END=79107119;NT GT ./. 1 79106967 rs11577394 C T 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.7843,T/0.2157;Gene=IFI44L/NM_006820.3/1;CC=c.1150-153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:16:0:0:10,13:327,382:0.00,37.53:0.00,30.52:0.00,7.01:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.5,51.3:0,0:0,0:47,42:103,108:36,26:-,NM_006820.2(IFI44L) c.1150-153C>T:-,0.22:-,NOT_FOUND 1 79107295 . G . . NT END=79107459;NT GT ./. 1 79107495 . G . . NT END=79115880;NT GT ./. 1 79116338 . G . . NT END=79119927;NT GT ./. 1 79119965 . G . . NT END=79120698;NT GT ./. 1 79120895 . G . . NT END=79121046;NT GT ./. 1 79121197 . G . . NT END=79124996;NT GT ./. 1 79125169 . G . . NT END=79126238;NT GT ./. 1 79126340 . G . . NT END=79128388;NT GT ./. 1 79129444 . T . . NT END=79129449;NT GT ./. 1 79129497 . A . . NT END=79356838;NT GT ./. 1 79215138 rs12135932 G T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6575,T/0.3425;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,T:6:4:0:0:2,4:64,108:0.00,11.00:0.00,7.78:0.00,3.22:0.00,0.93:0.00,0.99:0.00,0.91:60,60:0.0,52.2:0,0:0,0:64,77:85,73:16,33:-,chr1 g.79215137G>T (intergenic):-,0.35:-,NOT_FOUND 1 79215225 rs1625911 G A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3363,A/0.6637;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:14:0:0:7,9:238,283:22.38,0.00:22.88,0.00:-0.50,0.00:0.98,0.00:1.00,0.00:0.74,0.00:60,60:52.6,0.0:0,0:0,0:47,40:104,111:18,17:chr1 g.79215224G>A (intergenic),-:0.67,-:NOT_FOUND,- 1 79215916 rs1780742 T G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.08686,G/0.9131;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:11:0:0:12,14:330,449:30.92,0.00:14.09,0.00:16.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.9,19.1:0,0:0,0:78,105:72,45:33,35:chr1 g.79215915T>G (intergenic),-:0.9,-:NOT_FOUND,- 1 79216267 rs1780743 G C 16 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.105,C/0.895;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:C,G:16:7:0:0:6,10:181,304:16.37,0.00:0.86,0.00:15.51,0.00:0.95,0.00:0.95,0.00:1.00,0.00:60,60:31.7,7.1:0,0:0,0:103,52:48,96:28,25:chr1 g.79216266G>C (intergenic),-:0.89,-:NOT_FOUND,- 1 79356902 . C . . NT END=79357208;NT GT ./. 1 79356910 rs143948092 TA T 32 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=TA/0.9475,T/0.05252;NP=720;PC=0.001;Gene=ADGRL4/NM_022159.3/1;CC=c.2011-10delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:25:15:0:12:14,11:467,347:0.00,32.50:0.00,4.70:0.00,27.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,8.6:0,0:0,0:81,68:57,72:27,30:-,NM_022159.3(ELTD1) c.2011-10delT:-,0.07:-,0.119507 1 79357360 rs2275902 G C 92 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.7472,C/0.2528;PC=1.000;Gene=ADGRL4/NM_022159.3/1;CC=c.1859C>G;ProtCh=p.A620G;VC=Missense;DM=ADGRL4/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:73:44:0:0:30,43:988,1463:91.61,0.00:34.52,0.00:57.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,3.1:0,0:0,0:88,75:60,65:29,29:NM_022159.3(ELTD1) c.1859C>G (p.Ala620Gly),-:0.26,-:0.283295,- 1 79357378 . C . . NT END=79358782;NT GT ./. 1 79358743 . CAA C 9 rn VT=DEL;SST=Single;DP=12;Gene=ADGRL4/NM_022159.3/1;CC=c.1841+38_1841+39delTT;VC=Intron;DM=ADGRL4/7tm_2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:CAA,I,C:12:12:2:3:7,2,3:218,63,98:0.00,5.15,8.55:0.00,5.18,8.61:0.00,-0.04,-0.06:0.00,0.00,0.59:0.00,0.00,0.59:0.00,0.00,0.50:60,60,60:50.4,30.5,10.0:0,0,0:0,0,0:29,47,31:121,102,119:18,40,1:-,NM_022159.3(ELTD1) c.1841+38_1841+39delTT:-,NOT_FOUND:-,NOT_FOUND 1 79358875 . C . . NT END=79383318;NT GT ./. 1 79383300 rs5775467 CA C 63 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=CA/0.5639,C/0.4361;DB;DBA=NA;PAF=CA/0.5639,C/0.4361;NP=2064;PC=0.001;Gene=ADGRL4/NM_022159.3/1;CC=c.1749+18delT;VC=Intron;DM=ADGRL4/7tm_2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:36:30:0:22:15,21:497,635:0.00,62.88:0.00,53.28:0.00,9.61:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.3,6.3:0,0:0,0:45,62:106,87:13,24:-,NM_022159.3(ELTD1) c.1749+18delT:-,0.44:-,0.469589 1 79383386 . C . . NT END=79383514;NT GT ./. 1 79383458 rs12569007 A T 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.3638,T/0.6362;Gene=ADGRL4/NM_022159.3/1;CC=c.1682+57T>A;VC=Intron;DM=ADGRL4/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:53:31:0:0:29,24:869,711:0.00,66.63:0.00,30.83:0.00,35.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,42.8:0,0:0,0:63,95:87,55:24,35:-,NM_022159.3(ELTD1) c.1682+57T>A:-,0.63:-,NOT_FOUND 1 79383736 . C . . NT END=79385867;NT GT ./. 1 79383748 rs78237403 G GA 13 rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=2;NP=7;Gene=ADGRL4/NM_022159.3/1;CC=c.1462-14dupT;VC=Intron;DM=ADGRL4/7tm_2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G,GA,D:38:12:6:3:2,27,6,3:22,802,167,77:0.26,0.00,12.75,4.87:-0.15,0.00,4.37,-0.23:0.41,0.00,8.38,5.11:0.00,0.00,0.88,0.00:0.00,0.00,0.81,0.00:0.00,0.00,0.99,0.00:60,60,70,60:28.0,27.2,16.7,18.7:0,0,0,0:0,0,0,0:22,94,102,40:128,56,36,111:20,32,23,21:-,NM_022159.3(ELTD1) c.1462-14_1462-13insT:-,NOT_FOUND:-,NOT_FOUND 1 79383766 rs72675852 G T 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9685,T/0.03155;Gene=ADGRL4/NM_022159.3/1;CC=c.1462-31C>A;VC=Intron;DM=ADGRL4/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:36:10:0:0:20,16:674,499:0.00,46.79:0.00,7.21:0.00,39.58:0.00,1.00:0.00,0.99:0.00,1.00:70,60:13.8,49.7:0,0:0,0:80,100:70,44:41,24:-,NM_022159.3(ELTD1) c.1462-31C>A:-,0.05:-,0.054735 1 79385761 rs12032838 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7406,T/0.2594;Gene=ADGRL4/NM_022159.3/1;CC=c.1461+107G>A;VC=Intron;DM=ADGRL4/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,T:15:14:0:0:10,5:338,163:0.00,14.54:0.00,14.72:0.00,-0.18:0.00,0.89:0.00,0.99:0.00,0.56:60,60:3.0,36.6:0,0:0,0:43,63:107,85:40,34:-,NM_022159.3(ELTD1) c.1461+107G>A:-,0.27:-,NOT_FOUND 1 79386072 . C . . NT END=79387297;NT GT ./. 1 79387242 rs3811440 C T 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.8057,T/0.1943;Gene=ADGRL4/NM_022159.3/1;CC=c.1257+56G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:26:25:0:0:11,1,14:376,9,418:0.00,0.06,41.00:0.00,0.08,38.50:0.00,-0.03,2.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:1.0,142.0,38.6:0,0,0:0,0,0:28,55,48:122,74,97:20,0,19:-,NM_022159.3(ELTD1) c.1257+56G>A:-,0.22:-,NOT_FOUND 1 79387472 . C . . NT END=79392570;NT GT ./. 1 79387676 rs6658041 G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4415,A/0.5585;Gene=ADGRL4/NM_022159.3/1;CC=c.1084-205C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:0:0:0:3,2:81,68:8.05,0.00:0.00,0.00:8.05,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:34.3,0.0:0,0:0,0:53,107:98,43:28,6:NM_022159.3(ELTD1) c.1084-205C>T,-:0.57,-:NOT_FOUND,- 1 79392410 rs17102419 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3664,A/0.6336;PC=0.009;Gene=ADGRL4/NM_022159.3/1;CC=c.1083+161C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:6:6:0:0:3,3:91,96:8.72,0.00:8.72,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:55.3,23.0:0,0:0,0:47,95:103,56:10,41:NM_022159.3(ELTD1) c.1083+161C>T,-:0.63,-:NOT_FOUND,- 1 79392429 rs72675856 T C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9976,C/0.002396;NP=13;Gene=ADGRL4/NM_022159.3/1;CC=c.1083+142A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,T:8:8:0:0:4,4:114,110:10.90,0.00:10.90,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:34.0,45.0:0,0:0,0:13,51:137,98:7,20:NM_022159.3(ELTD1) c.1083+142A>G,-:0.01,-:NOT_FOUND,- 1 79392756 rs12754818 C A 56 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.3794,A/0.6206;PC=1.000;Gene=ADGRL4/NM_022159.3/1;CC=c.898G>T;ProtCh=p.V300L;VC=Missense;DM=ADGRL4/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:53:31:0:0:20,33:621,1142:56.36,0.00:27.11,0.00:29.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,3.5:0,0:0,0:104,95:46,56:31,43:NM_022159.3(ELTD1) c.898G>T (p.Val300Leu),-:0.62,-:0.604586,- 1 79392777 . C . . NT END=79401979;NT GT ./. 1 79392951 rs12757780 G T 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3792,T/0.6208;PC=0.111;Gene=ADGRL4/NM_022159.3/1;CC=c.878-175C>A;VC=Intron;DM=ADGRL4/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:G,T:8:0:0:0:2,6:70,192:0.00,20.11:0.00,0.00:0.00,20.11:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,32.0:0,0:0,0:118,100:32,50:4,27:-,NM_022159.3(ELTD1) c.878-175C>A:-,0.62:-,NOT_FOUND 1 79401927 rs61770681 A G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3792,G/0.6208;Gene=ADGRL4/NM_022159.3/1;CC=c.877+53T>C;VC=Intron;DM=ADGRL4/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G:16:16:0:0:13,3:429,106:0.00,8.68:0.00,8.68:0.00,0.00:0.00,0.54:0.00,0.54:0.00,0.00:60,60:5.6,38.7:0,0:0,0:53,54:98,97:33,9:-,NM_022159.3(ELTD1) c.877+53T>C:-,0.63:-,NOT_FOUND 1 79402097 . C . . NT END=79403491;NT GT ./. 1 79402254 rs1489396 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3792,A/0.6208;PC=0.027;Gene=ADGRL4/NM_022159.3/1;CC=c.761-158C>T;VC=Intron;DM=ADGRL4/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:0:0:0:3,1:102,35:10.65,0.00:0.00,0.00:10.65,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:34.0,0.0:0,0:0,0:70,68:81,83:5,0:NM_022159.3(ELTD1) c.761-158C>T,-:0.62,-:NOT_FOUND,- 1 79403335 rs1352555 T C 36 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2889,C/0.7111;Gene=ADGRL4/NM_022159.3/1;CC=c.760+157A>G;VC=Intron;DM=ADGRL4/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:C,T:13:12:0:0:11,2:337,59:36.49,0.00:37.31,0.00:-0.81,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:44.9,0.0:0,0:0,0:22,14:129,136:12,13:NM_022159.3(ELTD1) c.760+157A>G,-:0.7,-:NOT_FOUND,- 1 79403676 . C . . NT END=79403784;NT GT ./. 1 79403751 rs985277 T G 63 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.4077,A/.,C/.,G/0.5923;Gene=ADGRL4/NM_022159.3/1;CC=c.576+34A>C;VC=Intron;DM=ADGRL4/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:48:29:0:0:21,27:674,904:63.14,0.00:32.24,0.00:30.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,1.2:0,0:0,0:78,70:71,81:42,32:NM_022159.3(ELTD1) c.576+34A>C,-:0.6,-:0.558734,- 1 79403965 . C . . NT END=79404872;NT GT ./. 1 79404944 . C . . NT END=79411958;NT GT ./. 1 79411888 rs723898 T C 42 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5433,C/0.4567;PC=0.001;Gene=ADGRL4/NM_022159.3/1;CC=c.325+71A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:13,13:435,433:41.87,0.00:40.54,0.00:1.34,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:37.7,6.5:0,0:0,0:42,44:109,107:28,30:NM_022159.3(ELTD1) c.325+71A>G,-:0.45,-:NOT_FOUND,- 1 79412112 . C . . NT END=79470754;NT GT ./. 1 79470905 . C . . NT END=79472317;NT GT ./. 1 79472141 rs1571992 C A 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3486,A/0.6514;Gene=ADGRL4/NM_022159.3/1;CC=c.22+177G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:20:0:0:20:607:70.14:70.14:0.00:1.00:1.00:0.00:60:42.6:0:0:40:109:33:NM_022159.3(ELTD1) c.22+177G>T,NM_022159.3(ELTD1) c.22+177G>T:0.68,0.68:NOT_FOUND,NOT_FOUND 1 79472340 . T . . NT END=82302669;NT GT ./. 1 79504030 rs4120199 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7171,G/0.2829;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:143:16.21:2.04:14.17:1.00:1.00:1.00:60:42.2:0:0:38:72:18:chr1 g.79504029A>G (intergenic),chr1 g.79504029A>G (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 1 79520554 rs10874009 C T 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.03634,T/0.9637;PC=0.150 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:12:0:0:13:443:50.50:43.50:7.00:1.00:1.00:1.00:60:42.2:0:0:45:106:19:chr1 g.79520553C>T (intergenic),chr1 g.79520553C>T (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 79520949 rs6424628 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7157,A/0.2843;PC=0.924 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:5:0:0:9:293:33.59:19.38:14.21:1.00:1.00:1.00:60:47.4:0:0:67:82:17:chr1 g.79520948G>A (intergenic),chr1 g.79520948G>A (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 1 79521532 rs6424629 C T 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.03654,T/0.9635;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:1:0:0:15:437:50.80:3.28:47.53:1.00:1.00:1.00:60:65.4:0:0:106:45:40:chr1 g.79521531C>T (intergenic),chr1 g.79521531C>T (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 79521550 rs6424630 A G 42 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7017,G/0.2983;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:1:0:0:12:361:41.79:1.94:39.85:1.00:1.00:1.00:60:63.3:0:0:63:88:44:chr1 g.79521549A>G (intergenic),chr1 g.79521549A>G (intergenic):0.31,0.31:NOT_FOUND,NOT_FOUND 1 79619891 rs201729465 TATACAA T 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=36;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TATACAA,T:4:3:0:3:1,3:35,93:0.00,9.75:0.00,3.20:0.00,6.55:0.00,0.85:0.00,0.99:0.00,0.85:60,70:35.0,0.0:0,0:0,0:133,38:17,98:0,8:-,chr1 g.79619892_79619897delATACAA (intergenic):-,0.23:-,NOT_FOUND 1 79619903 rs150059685 C A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,C:4:3:0:0:3,1:100,34:10.45,0.00:3.35,0.00:7.10,0.00:0.85,0.00:0.99,0.00:0.85,0.00:70,60:0.0,73.0:3,0:0,0:44,5:92,54:8,0:chr1 g.79619902C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 79969744 rs150786238 GCACACACA G 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=38;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:GCACACACA,G:3:3:0:3:1,2:36,99:0.00,6.55:0.00,-0.15:0.00,6.70:0.00,0.94:0.00,0.89:0.00,0.94:60,60:0.0,5.5:0,1:0,0:127,74:24,57:0,19:-,chr1 g.79969745_79969752delCACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 79986910 rs17453405 C A 147 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7568,A/0.2432;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:29:0:0:41:1272:146.68:99.78:46.90:1.00:1.00:1.00:60:40.2:0:0:49:101:30:chr1 g.79986909C>A (intergenic),chr1 g.79986909C>A (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 1 79987501 rs17453503 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7568,C/0.2432;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:200:22.86:3.98:18.88:1.00:1.00:1.00:60:38.3:0:0:99:51:32:chr1 g.79987500T>C (intergenic),chr1 g.79987500T>C (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 1 80801419 rs12069728 A G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7626,G/0.2374;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:6:6:0:0:3,3:101,104:0.00,10.03:0.00,4.86:0.00,5.16:0.00,0.73:0.00,0.73:0.00,0.96:60,60:23.7,47.7:0,0:0,0:61,75:36,57:7,20:-,chr1 g.80801418A>G (intergenic):-,0.21:-,NOT_FOUND 1 80841576 rs67962847 GCA G 18 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=166;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:GCA,G:6:6:0:5:1,5:17,168:0.00,18.03:0.00,12.71:0.00,5.31:0.00,0.99:0.00,0.99:0.00,1.00:60,60:0.0,12.0:0,0:0,0:125,57:26,59:0,2:-,chr1 g.80841577_80841578delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 80961697 . T C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:8:0:0:13,10:361,340:35.35,0.00:7.49,0.00:27.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:28.6,21.7:0,0:0,0:97,79:49,70:30,23:chr1 g.80961696T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 81193564 rs1342403 C T 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4131,T/0.5869 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:347:39.47:29.63:9.84:1.00:1.00:1.00:70:65.9:0:0:76:66:23:chr1 g.81193563C>T (intergenic),chr1 g.81193563C>T (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 81193595 rs553548930 A CGTGT 12 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6653,AGT/.,AGTGT/0.3347;NP=17;NP=2;NP=8;PC=0.004;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,CGTGT:8:8:7:0:4,4:137,211:0.00,11.76:0.00,5.89:0.00,5.88:0.00,0.82:0.00,0.96:0.00,0.92:60,60:72.2,98.2:0,3:0,0:98,43:38,108:24,30:-,chr1 g.81193595delAinsCGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 81193662 rs10874162 T C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5615,C/0.4385 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:6:2:0:0:3,3:98,102:9.42,0.00:1.69,0.00:7.74,0.00:0.73,0.00:0.79,0.00:0.73,0.00:60,60:88.0,36.7:0,0:0,0:115,111:36,40:18,1:chr1 g.81193661T>C (intergenic),-:0.43,-:NOT_FOUND,- 1 81277728 rs72367790 AACAC A 9 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=15;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:AACAC,A:6:5:0:5:3,3:97,154:0.00,9.04:0.00,4.82:0.00,4.22:0.00,0.67:0.00,0.90:0.00,0.90:60,60:23.0,19.3:0,2:0,0:83,40:42,111:44,19:-,chr1 g.81277729_81277732delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 81546180 rs5775589 A AAC 10 sb,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=199;NP=5;PC=0.002;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,AAC:6:6:4:0:2,4:64,103:0.00,10.45:0.00,8.67:0.00,1.77:0.00,0.93:0.00,0.93:0.00,0.99:60,60:9.5,34.5:0,0:0,0:78,15:24,115:34,11:-,chr1 g.81546180_81546181insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 81564282 rs545095 A T 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.363,T/0.637;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:21:10:0:0:10,11:318,356:0.00,34.54:0.00,10.82:0.00,23.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,33.9:0,0:0,0:103,108:47,43:30,25:-,chr1 g.81564281A>T (intergenic):-,0.6:-,NOT_FOUND 1 81892824 rs79545001 T G 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.902,G/0.09804;PC=0.440 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:24:15:0:0:11,13:361,414:34.15,0.00:13.05,0.00:21.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:97.8,48.5:0,0:0,0:103,86:48,56:29,23:chr1 g.81892823T>G (intergenic),-:0.08,-:NOT_FOUND,- 1 81892826 rs12121921 C T 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.4567,T/0.5433;PC=0.494 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:15:0:0:24:797:91.12:41.42:49.70:1.00:1.00:1.00:60:72.9:0:0:89:55:27:chr1 g.81892825C>T (intergenic),chr1 g.81892825C>T (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 81892858 rs76757796 G A 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.9028,A/0.09724;PC=0.349 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:21:10:0:0:10,10,1:315,310,7:30.23,0.00,-0.03:7.30,0.00,-0.11:22.93,0.00,0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:94.0,40.5,168.0:0,0,0:0,0,0:90,106,79:61,44,72:36,24,0:chr1 g.81892857G>A (intergenic),-:0.07,-:NOT_FOUND,- 1 81892985 rs11163290 T C 22 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1647,C/0.8353;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:1:0:0:7:191:22.36:1.74:20.62:1.00:1.00:1.00:60:36.9:0:0:88:63:32:chr1 g.81892984T>C (intergenic),chr1 g.81892984T>C (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 82047557 rs60228143 GCGCA G 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GCGCA/0.8047,G/0.1953;DB;DBA=NA;PAF=GCGCA/0.8047,G/0.1953;NP=123;PC=0.009;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G:2:3:0:4:2:129:7.05:7.05:0.00:0.94:0.89:0.89:70:12.0:2:0:50:51:31:chr1 g.82047558_82047561delCGCA (intergenic),chr1 g.82047558_82047561delCGCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 82187248 rs77364612 C T 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9471,T/0.05292;PC=0.002;Gene=ADGRL2/NM_001297704.1/0;CC=c.-143+21755C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:11:11:0:0:5,6:161,210:0.00,20.57:0.00,20.57:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,78.0:0,0:0,0:81,38:68,112:60,21:-,chr1 g.82187247C>T (intergenic):-,0.05:-,NOT_FOUND 1 82187265 rs79204529 C A 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9291,A/0.07089;PC=0.001;Gene=ADGRL2/NM_001297704.1/0;CC=c.-143+21772C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,C:13:13:0:0:9,4:288,138:29.61,0.00:29.61,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:62.2,0.0:0,0:0,0:34,67:117,83:26,36:chr1 g.82187264C>A (intergenic),-:0.07,-:NOT_FOUND,- 1 82187544 rs80152757 A G 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9291,G/0.07089;Gene=ADGRL2/NM_001297704.1/0;CC=c.-143+22051A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,G:15:3:0:0:8,7:250,178:0.00,16.60:0.00,1.55:0.00,15.05:0.00,0.99:0.00,0.86:0.00,0.99:60,60:17.0,67.9:0,0:0,0:108,118:42,25:24,18:-,chr1 g.82187543A>G (intergenic):-,0.07:-,NOT_FOUND 1 82187573 rs149203409 A AG 8 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9291,AG/0.07089;NP=345;PC=0.492;Gene=ADGRL2/NM_001297704.1/0;CC=c.-143+22082dupG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,AG:10:1:3:0:7,3:233,94:0.00,8.18:0.00,-0.08:0.00,8.26:0.00,0.62:0.00,0.53:0.00,0.62:60,60:11.7,28.3:0,0:0,0:62,126:88,25:50,3:-,chr1 g.82187573_82187574insG (intergenic):-,0.07:-,NOT_FOUND 1 82187986 rs115855639 A C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9373,C/0.0627;PC=0.019;Gene=ADGRL2/NM_001297704.1/0;CC=c.-143+22493A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,C:9:9:0:0:5,4:166,135:0.00,12.72:0.00,12.72:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:2.0,69.5:0,0:0,0:49,57:102,93:11,44:-,chr1 g.82187985A>C (intergenic):-,0.06:-,NOT_FOUND 1 82188040 rs115420117 T C 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.9291,C/0.07089;Gene=ADGRL2/NM_001297704.1/0;CC=c.-143+22547T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:16:0:0:7,9:231,276:21.68,0.00:21.80,0.00:-0.12,0.00:0.98,0.00:0.98,0.00:0.62,0.00:60,60:49.6,10.2:0,0:0,0:34,36:117,115:12,24:chr1 g.82188039T>C (intergenic),-:0.07,-:NOT_FOUND,- 1 82188756 rs72715733 G A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9067,A/0.09325;PC=0.990;Gene=ADGRL2/NM_001297704.1/0;CC=c.-143+23263G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:7:3:0:0:4,3:83,105:8.06,0.00:3.95,0.00:4.11,0.00:0.90,0.00:0.93,0.00:0.99,0.00:60,60:46.0,0.0:0,0:0,0:91,87:46,64:8,9:chr1 g.82188755G>A (intergenic),-:0.09,-:NOT_FOUND,- 1 82302600 rs12064537 T C 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6795,C/0.3205;PC=1.000;Gene=ADGRL2/NM_001297704.1/0;CC=c.-70T>C;VC=5UTR;Gene=ADGRL2/NM_001297705.1/1;CC=c.-70T>C;VC=5UTR;Gene=ADGRL2/NM_001297706.1/0;CC=c.-70T>C;VC=5UTR;Gene=ADGRL2/NM_012302.3/0;CC=c.-70T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:12:0:0:13:406:46.76:37.22:9.55:1.00:1.00:1.00:60:38.0:0:0:60:88:29:NM_012302.2(LPHN2) c.-70T>C,NM_012302.2(LPHN2) c.-70T>C:0.31,0.31:NOT_FOUND,NOT_FOUND 1 82302743 . G . . NT END=82372701;NT GT ./. 1 82317419 rs5775643 T TTGTG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4553,TTG/0.5447,TTGTG/.,TTGTGTGTGTGTG/.;DB;DBA=NA;PAF=T/0.4553,TTG/0.5447,TTGTG/.,TTGTGTGTGTG/.;NP=79;NP=81;Gene=ADGRL2/NM_001297704.1/0;CC=c.73+14706_73+14707insGTGT;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.73+14706_73+14707insGTGT;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.73+14706_73+14707insGTGT;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.73+14706_73+14707insGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:T,TTGTG:5:4:4:0:2,3:59,131:0.00,9.63:0.00,3.13:0.00,6.50:0.00,0.73:0.00,0.94:0.00,0.96:60,60:37.0,11.7:0,1:0,0:97,55:33,85:17,23:-,NM_012302.2(LPHN2) c.73+14677_73+14678insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 82317449 rs3046332 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=17;Gene=ADGRL2/NM_001297704.1/0;CC=c.73+14707A>G;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.73+14707A>G;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.73+14707A>G;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.73+14707A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:8:6:0:0:5,3:163,103:0.00,9.43:0.00,3.04:0.00,6.39:0.00,0.67:0.00,0.93:0.00,0.95:60,60:6.2,67.0:0,0:0,0:106,33:45,38:4,2:-,NM_012302.2(LPHN2) c.73+14707A>G:-,NOT_FOUND:-,NOT_FOUND 1 82317455 . A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;NP=2;Gene=ADGRL2/NM_001297704.1/0;CC=c.73+14713A>G;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.73+14713A>G;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.73+14713A>G;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.73+14713A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:6:5:0:0:4,2:136,71:0.00,6.40:0.00,3.29:0.00,3.11:0.00,0.42:0.00,0.86:0.00,0.42:60,60:0.0,70.5:0,0:0,0:93,38:47,33:20,1:-,NM_012302.2(LPHN2) c.73+14713A>G:-,NOT_FOUND:-,NOT_FOUND 1 82333745 rs145794673 G GGTGT 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=120;NP=41;PC=0.002;Gene=ADGRL2/NM_001297704.1/0;CC=c.73+31038_73+31039insTGTG;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.73+31038_73+31039insTGTG;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.73+31038_73+31039insTGTG;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.73+31038_73+31039insTGTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GGTGT:3:3:3:1:1,2:31,98:0.00,6.45:0.00,-0.25:0.00,6.70:0.00,0.94:0.00,0.89:0.00,0.94:60,60:0.0,0.0:0,1:0,0:147,86:4,65:0,2:-,NM_012302.2(LPHN2) c.73+31003_73+31004insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 82371632 . AGT A 9 rn VT=DEL;SST=Single;DP=9;NP=32;PC=0.014;Gene=ADGRL2/NM_001297704.1/0;CC=c.74-1031_74-1030delGT;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.74-1031_74-1030delGT;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.74-1031_74-1030delGT;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.74-1031_74-1030delGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:AGT,A:9:6:0:3:6,3:199,101:0.00,9.04:0.00,1.05:0.00,8.00:0.00,0.64:0.00,0.42:0.00,0.42:60,60:25.8,3.3:1,0:0,0:107,47:41,103:38,6:-,NM_012302.2(LPHN2) c.74-1069_74-1068delGT:-,NOT_FOUND:-,NOT_FOUND 1 82372916 . G . . NT END=82402411;NT GT ./. 1 82373114 rs5775649 C CT 26 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=816;Gene=ADGRL2/NM_001297704.1/0;CC=c.287+200dupT;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.287+200dupT;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.287+200dupT;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.287+200dupT;VC=Intron;DM=ADGRL2/Gal_Lectin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:CT:7:0:7:0:7:229:26.24:0.00:26.24:1.00:0.00:1.00:60:17.7:0:0:125:26:13:NM_012302.2(LPHN2) c.287+199_287+200insT,NM_012302.2(LPHN2) c.287+199_287+200insT:1,1:NOT_FOUND,NOT_FOUND 1 82402522 . G . . NT END=82408652;NT GT ./. 1 82409454 . G . . NT END=82415872;NT GT ./. 1 82415814 rs9438715 T C 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.00639,C/0.9936;NP=3471;Gene=ADGRL2/NM_001297704.1/0;CC=c.1199-59T>C;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.1199-59T>C;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.1199-59T>C;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.1199-59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:22:0:0:26:794:91.73:72.16:19.57:1.00:1.00:1.00:60:38.7:0:0:54:96:32:NM_012302.2(LPHN2) c.1199-59T>C,NM_012302.2(LPHN2) c.1199-59T>C:1,1:NOT_FOUND,NOT_FOUND 1 82416167 . G . . NT END=82416701;NT GT ./. 1 82416220 rs2148630 G A 185 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.242,A/0.758;Gene=ADGRL2/NM_001297704.1/0;CC=c.1492+54G>A;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.1492+54G>A;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.1492+54G>A;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.1492+54G>A;VC=Intron;DM=ADGRL2/HRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:A:52:11:0:0:52:1605:185.08:20.15:164.93:1.00:1.00:1.00:60:42.2:0:0:100:49:25:NM_012302.2(LPHN2) c.1492+54G>A,NM_012302.2(LPHN2) c.1492+54G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 82416806 . G . . NT END=82417640;NT GT ./. 1 82417552 rs7413275 T G 115 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3373,G/0.6627;PC=0.037;Gene=ADGRL2/NM_001297704.1/0;CC=c.1597-89T>G;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.1597-89T>G;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.1597-89T>G;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.1597-89T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:31:0:0:31:1004:115.06:107.00:8.05:1.00:1.00:1.00:60:48.1:0:0:35:107:18:NM_012302.2(LPHN2) c.1597-89T>G,NM_012302.2(LPHN2) c.1597-89T>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 82417827 . G . . NT END=82418670;NT GT ./. 1 82418710 . G . . NT END=82421560;NT GT ./. 1 82421596 rs11163397 C T 181 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.00599,T/0.994;NP=3479;PC=0.296;Gene=ADGRL2/NM_001297704.1/0;CC=c.1818C>T;ProtCh=p.P606=;VC=Silent;Gene=ADGRL2/NM_001297705.1/1;CC=c.1818C>T;ProtCh=p.P606=;VC=Silent;Gene=ADGRL2/NM_001297706.1/0;CC=c.1818C>T;ProtCh=p.P606=;VC=Silent;Gene=ADGRL2/NM_012302.3/0;CC=c.1818C>T;ProtCh=p.P606=;VC=Silent;DM=ADGRL2/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:T:49:33:0:0:49:1577:180.99:89.65:91.34:1.00:1.00:1.00:60:39.3:0:0:67:66:28:NM_012302.2(LPHN2) c.=,NM_012302.2(LPHN2) c.=:1,1:0.992004,0.992004 1 82421745 . G . . NT END=82431741;NT GT ./. 1 82431868 . G . . NT END=82432087;NT GT ./. 1 82432294 . G . . NT END=82433709;NT GT ./. 1 82433884 . G . . NT END=82434861;NT GT ./. 1 82435072 . G . . NT END=82435997;NT GT ./. 1 82435693 rs397772207 C CACAA 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2304,CACAA/0.7696;DB;DBA=NA;PAF=C/0.2304,CACAA/0.7696;NP=21;Gene=ADGRL2/NM_001297704.1/0;CC=c.2683-303_2683-300dupCAAA;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.2683-303_2683-300dupCAAA;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.2683-303_2683-300dupCAAA;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.2683-303_2683-300dupCAAA;VC=Intron;DM=ADGRL2/7tm_2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,CACAA:4:4:3:0:1,3:32,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:34.0,0.0:1,0:0,0:12,37:139,114:0,21:-,NM_012302.2(LPHN2) c.2683-305_2683-304insACAA:-,NOT_FOUND:-,NOT_FOUND 1 82436219 . G . . NT END=82437535;NT GT ./. 1 82436281 rs1327022 G A 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5068,A/0.4932;PC=1.000;Gene=ADGRL2/NM_001297704.1/0;CC=c.2903+63G>A;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.2903+63G>A;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.2903+63G>A;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.2903+63G>A;VC=Intron;DM=ADGRL2/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:5:0:0:22:725:82.99:9.59:73.40:1.00:1.00:1.00:60:42.3:0:0:112:38:30:NM_012302.2(LPHN2) c.2903+63G>A,NM_012302.2(LPHN2) c.2903+63G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 82436421 rs6598976 C T 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.002995,T/0.997;NP=798;PC=1.000;Gene=ADGRL2/NM_001297704.1/0;CC=c.2903+203C>T;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.2903+203C>T;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.2903+203C>T;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.2903+203C>T;VC=Intron;DM=ADGRL2/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:224:25.74:0.00:25.74:1.00:0.00:1.00:60:60.3:0:0:123:28:14:NM_012302.2(LPHN2) c.2903+203C>T,NM_012302.2(LPHN2) c.2903+203C>T:1,1:NOT_FOUND,NOT_FOUND 1 82437363 rs3215833 TTTG T 34 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TTTG/0.5066,T/0.4934;DB;DBA=NA;PAF=TTTG/0.5066,T/0.4934;NP=537;PC=0.965;Gene=ADGRL2/NM_001297704.1/0;CC=c.2904-170_2904-168delGTT;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.2904-170_2904-168delGTT;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.2904-170_2904-168delGTT;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.2904-170_2904-168delGTT;VC=Intron;DM=ADGRL2/7tm_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:9:9:293:33.59:33.59:0.00:1.00:1.00:0.00:60:3.4:0:0:36:115:10:NM_012302.2(LPHN2) c.2904-172_2904-170delTTG,NM_012302.2(LPHN2) c.2904-172_2904-170delTTG:0.47,0.47:NOT_FOUND,NOT_FOUND 1 82437603 . G . . NT END=82445552;NT GT ./. 1 82445645 . G . . NT END=82447491;NT GT ./. 1 82447661 . G . . NT END=82450266;NT GT ./. 1 82450053 rs6598979 C T 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.002596,T/0.9974;NP=1160;Gene=ADGRL2/NM_001297704.1/0;CC=c.3232-214C>T;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.3232-214C>T;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.3232-214C>T;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.3232-214C>T;VC=Intron;DM=ADGRL2/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:388:45.37:45.37:0.00:1.00:1.00:0.00:60:46.8:0:0:36:114:15:NM_012302.2(LPHN2) c.3232-214C>T,NM_012302.2(LPHN2) c.3232-214C>T:1,1:NOT_FOUND,NOT_FOUND 1 82450396 . G . . NT END=82450942;NT GT ./. 1 82451040 . G . . NT END=82452584;NT GT ./. 1 82452565 . GT G 23 idl,rn VT=DEL;SST=Single;DP=52;NP=110;PC=0.292;Gene=ADGRL2/NM_001297704.1/0;CC=c.3457+1538delT;VC=Intron;Gene=ADGRL2/NM_001297705.1/1;CC=c.3458-396delT;VC=Intron;Gene=ADGRL2/NM_001297706.1/0;CC=c.3360+2182delT;VC=Intron;Gene=ADGRL2/NM_012302.3/0;CC=c.3457+1538delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GT,I,G:50:48:4:11:1,36,3,10:10,1190,133,315:-0.13,0.00,6.69,22.58:-0.06,0.00,5.67,10.95:-0.06,0.00,1.03,11.63:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,70:10.0,13.9,4.3,37.7:0,0,1,1:0,0,0,0:142,76,46,65:9,69,104,71:0,37,23,27:-,NM_012302.2(LPHN2) c.3457+1527delT:-,NOT_FOUND:-,NOT_FOUND 1 82452714 . G . . NT END=82452943;NT GT ./. 1 82453026 . G . . NT END=82455340;NT GT ./. 1 82456065 . T . . NT END=82456074;NT GT ./. 1 82456830 . T . . NT END=84335644;NT GT ./. 1 82543618 rs4500364 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.846,G/0.154 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:139:15.81:6.12:9.69:1.00:1.00:1.00:60:48.2:0:0:115:35:9:chr1 g.82543617A>G (intergenic),chr1 g.82543617A>G (intergenic):0.16,0.16:NOT_FOUND,NOT_FOUND 1 83268117 rs7523309 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.649,G/0.351 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,G:6:5:0:0:3,3:81,95:0.00,9.13:0.00,6.25:0.00,2.88:0.00,0.73:0.00,0.96:0.00,0.94:60,60:45.3,93.7:0,0:0,0:22,31:66,68:13,28:-,chr1 g.83268116A>G (intergenic):-,0.36:-,NOT_FOUND 1 83268180 rs4468159 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6494,G/0.3506;NP=132;NP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,G:7:4:0:0:3,4:102,130:0.00,12.83:0.00,4.45:0.00,8.38:0.00,0.90:0.00,0.97:0.00,0.98:60,60:87.0,101.0:0,0:0,0:74,44:69,87:26,21:-,chr1 g.83268179A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 83268187 rs4433386 A C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=766 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:134:15.75:5.43:10.33:1.00:1.00:1.00:60:106.4:0:0:55:70:25:chr1 g.83268186A>C (intergenic),chr1 g.83268186A>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 83268191 rs4357519 T C 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:168:19.18:7.15:12.03:1.00:1.00:1.00:60:110.8:0:0:59:66:25:chr1 g.83268190T>C (intergenic),chr1 g.83268190T>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 83268221 rs563976004 T C 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:C,T:6:3:0:0:3,3:97,83:9.33,0.00:1.39,0.00:7.94,0.00:0.73,0.00:0.89,0.00:0.96,0.00:60,60:77.3,109.0:0,0:0,0:89,64:36,87:26,0:chr1 g.83268220T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 83587770 rs809751 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2258,C/0.7742;NP=66 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:148:17.18:4.08:13.10:1.00:1.00:1.00:60:39.6:0:0:96:55:23:chr1 g.83587769T>C (intergenic),chr1 g.83587769T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 83661166 rs58993525 A T,AT 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.365,AT/0.635;DB;DBA=NA;PAF=A/0.365,AT/0.635;NP=569;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,T,AT:4:2:2:0:1,1,2:22,27,64:0.00,2.45,6.45:0.00,-0.12,2.98:0.00,2.58,3.48:0.00,0.00,0.94:0.00,0.00,0.79:0.00,0.00,0.79:48,43,60:0.0,72.0,26.0:0,1,0:0,0,0:145,37,10:4,110,139:0,0,7:chr1 g.83661165A>T (intergenic),chr1 g.83661166_83661167insT (intergenic):NOT_FOUND,0.62:NOT_FOUND,NOT_FOUND 1 84077426 rs55768712 TCACACACACACACACA T 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;Gene=LOC101927587/NR_119375.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TCACACACACACACACA,T:3:4:0:3:1,2:32,100:0.00,6.85:0.00,3.28:0.00,3.58:0.00,0.94:0.00,0.94:0.00,0.79:60,60:0.0,65.0:0,1:0,0:93,51:47,100:0,11:-,chr1 g.84077427_84077442delCACACACACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 84077490 rs6682383 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1262,C/0.8738;Gene=LOC101927587/NR_119375.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:5:0:0:7:235:26.84:11.68:15.16:1.00:1.00:1.00:60:53.9:0:0:86:56:15:chr1 g.84077489T>C (intergenic),chr1 g.84077489T>C (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 1 84335766 . C . . NT END=84348645;NT GT ./. 1 84348820 . C . . NT END=84350758;NT GT ./. 1 84350778 . C . . NT END=84352859;NT GT ./. 1 84352968 . C . . NT END=84356003;NT GT ./. 1 84356165 . C . . NT END=84369761;NT GT ./. 1 84369843 . C . . NT END=84372011;NT GT ./. 1 84372207 . C . . NT END=84373138;NT GT ./. 1 84372991 rs397729894 T TA 31 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6593,TA/0.3407;DB;DBA=NA;PAF=T/0.6593,TA/0.3407;NP=751;PC=0.001;Gene=MIR548AP/NR_049805.1/0;VC=NonCoding;Gene=TTLL7/NM_024686.4/1;CC=c.1992+147dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,T,TA:14:14:10:0:2,2,10:57,67,286:4.83,0.00,30.81:4.83,0.00,30.81:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:50.5,69.0,10.3:1,1,0:0,0,0:24,59,60:124,82,90:24,26,27:-,NM_024686.4(TTLL7) c.1992+147_1992+148insT:-,0.38:-,NOT_FOUND 1 84373345 . C . . NT END=84376847;NT GT ./. 1 84377047 . C . . NT END=84383286;NT GT ./. 1 84383374 . C . . NT END=84385381;NT GT ./. 1 84383491 rs12135028 T C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7784,C/0.2216;Gene=TTLL7/NM_024686.4/1;CC=c.1501-118A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:C,T:13:0:0:0:7,6:239,171:23.36,0.00:0.00,0.00:23.36,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:37.4,23.0:0,0:0,0:86,75:65,74:45,38:NM_024686.4(TTLL7) c.1501-118A>G,-:0.23,-:NOT_FOUND,- 1 84384825 rs1324486 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6148,A/0.3852;Gene=TTLL7/NM_024686.4/1;CC=c.1500+557C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:162:18.58:18.58:0.00:1.00:1.00:0.00:60:70.8:0:0:53:98:29:NM_024686.4(TTLL7) c.1500+557C>T,NM_024686.4(TTLL7) c.1500+557C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 84384847 rs11163867 C T 18 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6276,T/0.3724;Gene=TTLL7/NM_024686.4/1;CC=c.1500+535G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:157:18.08:16.09:1.99:1.00:1.00:1.00:60:70.8:0:0:75:76:29:NM_024686.4(TTLL7) c.1500+535G>A,NM_024686.4(TTLL7) c.1500+535G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 1 84385518 . C . . NT END=84386769;NT GT ./. 1 84386844 . C . . NT END=84386929;NT GT ./. 1 84387078 . C . . NT END=84394818;NT GT ./. 1 84394914 . C . . NT END=84399290;NT GT ./. 1 84399450 . C . . NT END=84403534;NT GT ./. 1 84403700 . C . . NT END=84408145;NT GT ./. 1 84408363 . C . . NT END=84412806;NT GT ./. 1 84412966 . C . . NT END=84414310;NT GT ./. 1 84413867 rs59460644 A AACAC 12 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7029,AACAC/0.2971;DB;DBA=NA;PAF=NA;NP=1;NP=61;NP=9;Gene=TTLL7/NM_024686.4/1;CC=c.347+443_347+444insGTGT;VC=Intron;DM=TTLL7/TTL;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:AACAC:4:4:5:0:4:137:11.65:7.72:3.94:0.96:1.00:1.00:60:0.0:1:0:41:101:12:NM_024686.4(TTLL7) c.347+443_347+444insGTGT,NM_024686.4(TTLL7) c.347+443_347+444insGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 84414379 . C . . NT END=84415547;NT GT ./. 1 84415670 . C . . NT END=84417527;NT GT ./. 1 84417660 . C . . NT END=84417869;NT GT ./. 1 84417912 . A . . NT END=84544008;NT GT ./. 1 84543733 . C T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;PC=0.189;Gene=PRKACB/NM_207578.2/0;CC=c.-276C>T;VC=5UTR;Gene=PRKACB/NM_002731.3/1;CC=c.-276C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:10:9:0:0:2,8:43,200:0.00,21.68:0.00,17.80:0.00,3.88:0.00,1.00:0.00,1.00:0.00,0.87:60,60:43.5,45.1:0,0:0,0:31,52:119,98:26,14:-,NM_002731.2(PRKACB) c.-264-u12C>T:-,NOT_FOUND:-,NOT_FOUND 1 84544055 . G . . NT END=84609950;NT GT ./. 1 84551736 rs12404263 G A 116 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.6753,A/0.3247;PC=1.000;Gene=PRKACB/NM_207578.2/0;CC=c.46+7682G>A;VC=Intron;Gene=PRKACB/NM_002731.3/1;CC=c.46+7682G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:31:0:0:32:1003:115.51:99.07:16.45:1.00:1.00:1.00:60:40.6:0:0:55:95:36:NM_002731.2(PRKACB) c.46+7682G>A,NM_002731.2(PRKACB) c.46+7682G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 1 84602173 rs60681226 C CCACACACA 7 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7063,CCA/.,CCACACACACA/.,CCACACACACACA/0.2937,CCACACACACACACA/.;DB;DBA=NA;PAF=C/0.9984,T/0.001597;DB;DBA=NA;PAF=C/0.7063,CCACACACACA/.,CCACACACACACA/0.2937;NP=40;NP=6;PC=0.003;Gene=PRKACB/NM_207578.2/0;CC=c.47-42658_47-42657insACACACAC;VC=Intron;Gene=PRKACB/NM_002731.3/1;CC=c.47-42658_47-42657insACACACAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,CCACACACA:6:5:5:0:3,3:75,143:0.00,7.12:0.00,2.45:0.00,4.67:0.00,0.67:0.00,0.90:0.00,0.85:60,60:12.0,21.3:0,2:0,0:106,79:31,70:3,19:-,NM_002731.2(PRKACB) c.47-42687_47-42686insCACACACA:-,NOT_FOUND:-,NOT_FOUND 1 84610232 . G . . NT END=84629980;NT GT ./. 1 84630106 . G . . NT END=84630356;NT GT ./. 1 84630697 . G . . NT END=84639011;NT GT ./. 1 84639036 . G . . NT END=84640715;NT GT ./. 1 84640691 rs582201 T G 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.04712,G/0.9529;PC=1.000;Gene=PRKACB/NM_207578.2/0;CC=c.47-4169T>G;VC=Intron;Gene=PRKACB/NM_002731.3/1;CC=c.47-4169T>G;VC=Intron;Gene=PRKACB/NM_001300916.1/0;CC=c.188-4169T>G;VC=Intron;Gene=PRKACB/NM_182948.3/0;CC=c.188-4169T>G;VC=Intron;Gene=PRKACB/NM_001300917.1/0;CC=c.11-4169T>G;VC=Intron;Gene=PRKACB/NM_001242857.2/0;CC=c.35-25T>G;VC=Intron;Gene=PRKACB/NM_001242858.2/0;CC=c.11-4169T>G;VC=Intron;Gene=PRKACB/NM_001242859.2/0;CC=c.35-25T>G;VC=Intron;Gene=PRKACB/NM_001300915.1/0;CC=c.32-25T>G;VC=Intron;Gene=PRKACB/NM_001242860.2/0;CC=c.32-25T>G;VC=Intron;Gene=PRKACB/NM_001242861.2/0;CC=c.32-25T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:10:0:0:12:408:46.52:29.13:17.40:1.00:1.00:1.00:60:39.2:0:0:41:101:23:NM_002731.2(PRKACB) c.47-4169T>G,NM_002731.2(PRKACB) c.47-4169T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 84640740 . G . . NT END=84641481;NT GT ./. 1 84640834 rs12132002 T G 26 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.729,G/0.271;PC=0.801;Gene=PRKACB/NM_207578.2/0;CC=c.47-4026T>G;VC=Intron;Gene=PRKACB/NM_002731.3/1;CC=c.47-4026T>G;VC=Intron;Gene=PRKACB/NM_001300916.1/0;CC=c.188-4026T>G;VC=Intron;Gene=PRKACB/NM_182948.3/0;CC=c.188-4026T>G;VC=Intron;Gene=PRKACB/NM_001300917.1/0;CC=c.11-4026T>G;VC=Intron;Gene=PRKACB/NM_001242857.2/0;CC=c.58+95T>G;VC=Intron;Gene=PRKACB/NM_001242858.2/0;CC=c.11-4026T>G;VC=Intron;Gene=PRKACB/NM_001242859.2/0;CC=c.58+95T>G;VC=Intron;Gene=PRKACB/NM_001300915.1/0;CC=c.55+95T>G;VC=Intron;Gene=PRKACB/NM_001242860.2/0;CC=c.55+95T>G;VC=Intron;Gene=PRKACB/NM_001242861.2/0;CC=c.55+95T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:225:25.84:1.99:23.85:1.00:1.00:1.00:60:39.4:0:0:81:68:31:NM_002731.2(PRKACB) c.47-4026T>G,NM_002731.2(PRKACB) c.47-4026T>G:0.29,0.29:NOT_FOUND,NOT_FOUND 1 84641491 . G . . NT END=84644859;NT GT ./. 1 84644922 . G . . NT END=84647342;NT GT ./. 1 84647412 . G . . NT END=84647882;NT GT ./. 1 84648012 . G . . NT END=84649719;NT GT ./. 1 84649819 . G . . NT END=84650782;NT GT ./. 1 84650866 . G . . NT END=84662298;NT GT ./. 1 84662426 . G . . NT END=84663411;NT GT ./. 1 84663508 . G . . NT END=84668365;NT GT ./. 1 84668489 . G . . NT END=84670161;NT GT ./. 1 84670439 rs3835687 A AC 102 PASS VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.5937,AC/0.4063;NP=143;PC=0.005;Gene=PRKACB/NM_207578.2/0;CC=c.*266_*267insC;VC=3UTR;Gene=PRKACB/NM_002731.3/1;CC=c.765+1951_765+1952insC;VC=Intron;Gene=PRKACB/NM_001300916.1/0;CC=c.*266_*267insC;VC=3UTR;Gene=PRKACB/NM_182948.3/0;CC=c.906+1951_906+1952insC;VC=Intron;Gene=PRKACB/NM_001300917.1/0;CC=c.*266_*267insC;VC=3UTR;Gene=PRKACB/NM_001242857.2/0;CC=c.786+1951_786+1952insC;VC=Intron;Gene=PRKACB/NM_001242858.2/0;CC=c.729+1951_729+1952insC;VC=Intron;Gene=PRKACB/NM_001242859.2/0;CC=c.777+1951_777+1952insC;VC=Intron;Gene=PRKACB/NM_001300915.1/0;CC=c.*266_*267insC;VC=3UTR;Gene=PRKACB/NM_001242860.2/0;CC=c.783+1951_783+1952insC;VC=Intron;Gene=PRKACB/NM_001242861.2/0;CC=c.675+1951_675+1952insC;VC=Intron;Gene=PRKACB/NM_001242862.2/0;CC=c.726+1951_726+1952insC;VC=Intron;DM=PRKACB/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A,AC:30:17:29:0:1,29:25,899:0.00,101.83:0.00,49.59:0.00,52.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:76.0,38.7:0,0:0,0:148,50:3,90:0,26:NM_002731.2(PRKACB) c.765+1951_765+1952insC,NM_002731.2(PRKACB) c.765+1951_765+1952insC:0.44,0.44:NOT_FOUND,NOT_FOUND 1 84670457 rs3768258 A G 107 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6516,G/0.3484;PC=0.007;Gene=PRKACB/NM_207578.2/0;CC=c.*284A>G;VC=3UTR;Gene=PRKACB/NM_002731.3/1;CC=c.765+1969A>G;VC=Intron;Gene=PRKACB/NM_001300916.1/0;CC=c.*284A>G;VC=3UTR;Gene=PRKACB/NM_182948.3/0;CC=c.906+1969A>G;VC=Intron;Gene=PRKACB/NM_001300917.1/0;CC=c.*284A>G;VC=3UTR;Gene=PRKACB/NM_001242857.2/0;CC=c.786+1969A>G;VC=Intron;Gene=PRKACB/NM_001242858.2/0;CC=c.729+1969A>G;VC=Intron;Gene=PRKACB/NM_001242859.2/0;CC=c.777+1969A>G;VC=Intron;Gene=PRKACB/NM_001300915.1/0;CC=c.*284A>G;VC=3UTR;Gene=PRKACB/NM_001242860.2/0;CC=c.783+1969A>G;VC=Intron;Gene=PRKACB/NM_001242861.2/0;CC=c.675+1969A>G;VC=Intron;Gene=PRKACB/NM_001242862.2/0;CC=c.726+1969A>G;VC=Intron;DM=PRKACB/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:17:0:0:28:941:107.44:55.38:52.07:1.00:1.00:1.00:60:42.5:0:0:67:76:24:NM_002731.2(PRKACB) c.765+1969A>G,NM_002731.2(PRKACB) c.765+1969A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 1 84670584 rs10782824 T A 117 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.5937,A/0.4063;Gene=PRKACB/NM_207578.2/0;CC=c.*411T>A;VC=3UTR;Gene=PRKACB/NM_002731.3/1;CC=c.765+2096T>A;VC=Intron;Gene=PRKACB/NM_001300916.1/0;CC=c.*411T>A;VC=3UTR;Gene=PRKACB/NM_182948.3/0;CC=c.906+2096T>A;VC=Intron;Gene=PRKACB/NM_001300917.1/0;CC=c.*411T>A;VC=3UTR;Gene=PRKACB/NM_001242857.2/0;CC=c.786+2096T>A;VC=Intron;Gene=PRKACB/NM_001242858.2/0;CC=c.729+2096T>A;VC=Intron;Gene=PRKACB/NM_001242859.2/0;CC=c.777+2096T>A;VC=Intron;Gene=PRKACB/NM_001300915.1/0;CC=c.*411T>A;VC=3UTR;Gene=PRKACB/NM_001242860.2/0;CC=c.783+2096T>A;VC=Intron;Gene=PRKACB/NM_001242861.2/0;CC=c.675+2096T>A;VC=Intron;Gene=PRKACB/NM_001242862.2/0;CC=c.726+2096T>A;VC=Intron;DM=PRKACB/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:21:0:0:32:1016:116.84:64.56:52.28:1.00:1.00:1.00:60:36.6:0:0:63:87:28:NM_002731.2(PRKACB) c.765+2096T>A,NM_002731.2(PRKACB) c.765+2096T>A:0.44,0.44:NOT_FOUND,NOT_FOUND 1 84670816 rs1057738 A C 155 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6512,C/0.3488;PC=0.017;Gene=PRKACB/NM_207578.2/0;CC=c.*643A>C;VC=3UTR;Gene=PRKACB/NM_002731.3/1;CC=c.765+2328A>C;VC=Intron;Gene=PRKACB/NM_001300916.1/0;CC=c.*643A>C;VC=3UTR;Gene=PRKACB/NM_182948.3/0;CC=c.906+2328A>C;VC=Intron;Gene=PRKACB/NM_001300917.1/0;CC=c.*643A>C;VC=3UTR;Gene=PRKACB/NM_001242857.2/0;CC=c.786+2328A>C;VC=Intron;Gene=PRKACB/NM_001242858.2/0;CC=c.729+2328A>C;VC=Intron;Gene=PRKACB/NM_001242859.2/0;CC=c.777+2328A>C;VC=Intron;Gene=PRKACB/NM_001300915.1/0;CC=c.*643A>C;VC=3UTR;Gene=PRKACB/NM_001242860.2/0;CC=c.783+2328A>C;VC=Intron;Gene=PRKACB/NM_001242861.2/0;CC=c.675+2328A>C;VC=Intron;Gene=PRKACB/NM_001242862.2/0;CC=c.726+2328A>C;VC=Intron;DM=PRKACB/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A,C:44:30:0:0:1,43:18,1367:0.00,155.10:0.00,83.41:0.00,71.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:102.0,43.1:0,0:0,0:115,86:31,65:0,41:NM_002731.2(PRKACB) c.765+2328A>C,NM_002731.2(PRKACB) c.765+2328A>C:0.39,0.39:NOT_FOUND,NOT_FOUND 1 84670981 . T . . NT END=84679835;NT GT ./. 1 84680001 . G . . NT END=84700862;NT GT ./. 1 84680175 rs59394979 A AT 7 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;PC=0.201;Gene=PRKACB/NM_002731.3/1;CC=c.930+193_930+194insT;VC=Intron;Gene=PRKACB/NM_182948.3/0;CC=c.1071+193_1071+194insT;VC=Intron;Gene=PRKACB/NM_001242857.2/0;CC=c.951+193_951+194insT;VC=Intron;Gene=PRKACB/NM_001242858.2/0;CC=c.894+193_894+194insT;VC=Intron;Gene=PRKACB/NM_001242859.2/0;CC=c.942+193_942+194insT;VC=Intron;Gene=PRKACB/NM_001242860.2/0;CC=c.948+193_948+194insT;VC=Intron;Gene=PRKACB/NM_001242861.2/0;CC=c.840+193_840+194insT;VC=Intron;Gene=PRKACB/NM_001242862.2/0;CC=c.891+193_891+194insT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,AT,D:8:0:4:1:4,3,1:110,108,33:0.00,6.90,2.62:0.00,0.00,0.00:0.00,6.90,2.62:0.00,0.64,0.00:0.00,0.00,0.00:0.00,0.64,0.00:60,60,60:7.8,53.3,0.0:0,1,0:0,0,0:132,107,93:18,43,58:18,9,0:-,NM_002731.2(PRKACB) c.930+175_930+176insT:-,NOT_FOUND:-,NOT_FOUND 1 84700989 . A . . NT END=84764240;NT GT ./. 1 84709899 . C CA 9 rn VT=INS;SST=Single;DP=43;NP=7;PC=0.731;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,CA,D:43:39:4:1:38,4,1:1242,127,32:0.00,8.88,1.66:0.00,7.08,1.72:0.00,1.79,-0.06:0.00,0.58,0.00:0.00,0.92,0.00:0.00,0.56,0.00:60,60,60:6.8,12.0,0.0:0,0,0:0,0,0:28,45,7:122,106,144:21,19,0:-,chr1 g.84709899_84709900insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 84764251 . G . . NT END=84767288;NT GT ./. 1 84764475 rs316643 C G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6999,G/0.3001;Gene=SAMD13/NM_001010971.2/0;CC=c.10+225C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,G:8:0:0:0:2,6:56,196:0.00,20.51:0.00,0.00:0.00,20.51:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.0,32.7:0,0:0,0:57,124:93,26:6,15:-,NM_001010971.2(SAMD13) c.10+225C>G:-,0.28:-,NOT_FOUND 1 84767044 rs72942037 G A 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8333,A/0.1667;Gene=SAMD13/NM_001010971.2/0;CC=c.11-1842G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,G:8:8:0:0:4,4:135,139:13.00,0.00:13.00,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:37.0,3.0:0,0:0,0:66,67:82,84:18,30:NM_001010971.2(SAMD13) c.11-1842G>A,-:0.15,-:NOT_FOUND,- 1 84767485 . G . . NT END=84768333;NT GT ./. 1 84768224 . TACACAC T 30 idl,rn VT=DEL;SST=Single;DP=26;NP=28;PC=0.210;Gene=SAMD13/NM_001010971.2/0;CC=c.11-631_11-626delACACAC;VC=Intron;Gene=SAMD13/NM_001134663.1/0;CC=c.-32-631_-32-626delACACAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,TACACAC,T:21:23:0:16:1,9,11:20,296,471:0.94,0.00,29.64:-0.14,0.00,24.25:1.08,0.00,5.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:85.0,8.1,10.5:0,0,5:0,0,0:4,55,20:146,86,123:0,32,10:-,NM_001010971.2(SAMD13) c.11-661_11-656delACACAC:-,NOT_FOUND:-,NOT_FOUND 1 84768374 . G . . NT END=84768885;NT GT ./. 1 84768971 . G . . NT END=84791319;NT GT ./. 1 84791239 rs315555 T C 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.1216,C/0.8784;Gene=SAMD13/NM_001010971.2/0;CC=c.96-81T>C;VC=Intron;Gene=SAMD13/NM_001134663.1/0;CC=c.54-81T>C;VC=Intron;Gene=SAMD13/NM_001134664.1/1;CC=c.54-81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:21:0:0:22:716:81.94:72.00:9.94:1.00:1.00:1.00:60:44.4:0:0:43:107:22:NM_001010971.2(SAMD13) c.96-81T>C,NM_001010971.2(SAMD13) c.96-81T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 84791432 . G . . NT END=84815434;NT GT ./. 1 84815579 . A . . NT END=84864247;NT GT ./. 1 84835880 . TACACACACAC T 7 nt VT=DEL;SST=Single;DP=6;NP=29;PC=0.001;Gene=UOX/NR_003927.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:TACACACACAC,T:6:5:0:3:3,3:85,73:0.00,6.89:0.00,4.67:0.00,2.23:0.00,0.73:0.00,0.96:0.00,0.96:60,60:8.0,53.3:0,0:0,0:116,86:35,65:1,9:-,NR_003927.1(UOX) n.706-180_706-171delGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 84864373 . G . . NT END=84867583;NT GT ./. 1 84867762 . G . . NT END=84874033;NT GT ./. 1 84873835 rs1981254 A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4517,G/0.5483;PC=0.024;Gene=DNASE2B/NM_021233.2/1;CC=c.304-285A>G;VC=Intron;DM=DNASE2B/DNase_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:10:10:0:0:7,3:207,102:0.00,8.99:0.00,8.99:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:22.1,76.7:0,0:0,0:49,108:102,22:29,34:-,NM_021233.2(DNASE2B) c.304-285A>G:-,0.55:-,NOT_FOUND 1 84874202 . G . . NT END=84876520;NT GT ./. 1 84876683 . G . . NT END=84878031;NT GT ./. 1 84876711 rs199974554 C CA 76 nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=1805;Gene=DNASE2B/NM_021233.2/1;CC=c.547+29_547+30insA;VC=Intron;Gene=DNASE2B/NM_058248.1/0;CC=c.-78+29_-78+30insA;VC=Intron;DM=DNASE2B/DNase_II;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:53:19:25:0:2,26,25:70,800,789:4.68,0.00,75.52:2.44,0.00,8.84:2.24,0.00,66.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:70.0,23.7,30.7:2,0,0:0,0,0:106,113,109:35,35,38:17,17,22:-,NM_021233.2(DNASE2B) c.547+29_547+30insA:-,0.54:-,0.517795 1 84876731 rs1506700 T G 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4553,G/0.5447;Gene=DNASE2B/NM_021233.2/1;CC=c.547+49T>G;VC=Intron;Gene=DNASE2B/NM_058248.1/0;CC=c.-78+49T>G;VC=Intron;DM=DNASE2B/DNase_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:40:14:0:0:21,19:641,621:62.07,0.00:10.82,0.00:51.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,9.2:0,0:0,0:113,113:29,38:21,22:NM_021233.2(DNASE2B) c.547+49T>G,-:0.54,-:0.518543,- 1 84878228 rs7511984 C T 63 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.8644,T/0.1356;PC=0.002;Gene=DNASE2B/NM_021233.2/1;CC=c.744C>T;ProtCh=p.D248=;VC=Silent;Gene=DNASE2B/NM_058248.1/0;CC=c.120C>T;ProtCh=p.D40=;VC=Silent;DM=DNASE2B/DNase_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:20:0:0:22,22:668,662:0.00,63.41:0.00,21.44:0.00,41.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,50.1:0,0:0,0:114,82:36,60:24,41:-,NM_021233.2(DNASE2B) c.744C>T (p.(=)):-,0.14:-,0.185068 1 84878230 . G . . NT END=84880210;NT GT ./. 1 84878380 rs3116423 A G 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.01438,G/0.9856;Gene=DNASE2B/NM_021233.2/1;CC=c.745+151A>G;VC=Intron;Gene=DNASE2B/NM_058248.1/0;CC=c.121+151A>G;VC=Intron;DM=DNASE2B/DNase_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,G:11:0:0:0:1,10:11,302:0.00,33.59:0.00,0.00:0.00,33.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:69.0,53.9:0,0:0,0:27,57:104,93:0,36:NM_021233.2(DNASE2B) c.745+151A>G,NM_021233.2(DNASE2B) c.745+151A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 84880552 . A . . NT END=84944964;NT GT ./. 1 84945193 . G . . NT END=84946638;NT GT ./. 1 84945339 rs17374048 C T 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.9692,T/0.03075;Gene=RPF1/NM_025065.6/1;CC=c.228+147C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:0:0:0:15,11:475,350:0.00,32.56:0.00,0.00:0.00,32.56:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.3,48.5:0,0:0,0:130,116:21,28:16,24:-,NM_025065.6(RPF1) c.228+147C>T:-,0.03:-,NOT_FOUND 1 84946486 rs72948421 G A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9567,A/0.04333;Gene=RPF1/NM_025065.6/1;CC=c.229-153G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:6:6:0:0:4,2:135,62:13.75,0.00:13.75,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:33.8,0.0:0,0:0,0:58,128:92,22:41,4:NM_025065.6(RPF1) c.229-153G>A,-:0.04,-:NOT_FOUND,- 1 84946696 . G . . NT END=84948597;NT GT ./. 1 84946745 rs7413066 C T 83 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.01158,T/0.9884;PC=0.014;Gene=RPF1/NM_025065.6/1;CC=c.285+50C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:10:0:0:22:729:83.37:23.71:59.66:1.00:1.00:1.00:60:34.3:0:0:98:47:20:NM_025065.6(RPF1) c.285+50C>T,NM_025065.6(RPF1) c.285+50C>T:0.99,0.99:0.985369,0.985369 1 84948417 rs397963036 T A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5114,A/0.4886;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;Gene=RPF1/NM_025065.6/1;CC=c.286-181T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,T:8:8:0:0:7,1:222,29:24.23,0.00:24.23,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.3,20.0:1,0:0,0:28,3:122,146:25,0:NM_025065.6(RPF1) c.286-181T>A,-:0.39,-:NOT_FOUND,- 1 84948679 . G . . NT END=84955315;NT GT ./. 1 84955412 . G . . NT END=84956001;NT GT ./. 1 84956156 . G . . NT END=84961055;NT GT ./. 1 84956161 rs556742567 C CT 18 idl,rn VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.7336,CT/0.2664,CTT/.;DB;DBA=NA;PAF=C/0.7336,CT/0.2664,CTT/.;NP=286;PC=1.000;Gene=RPF1/NM_025065.6/1;CC=c.616+17dupT;VC=Intron;DM=RPF1/Brix;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,C,CT,D:50:24:7:5:1,38,7,4:23,1263,227,163:0.78,0.00,17.57,9.14:-0.12,0.00,4.78,2.03:0.90,0.00,12.79,7.12:0.00,0.00,0.92,0.00:0.00,0.00,0.92,0.00:0.00,0.00,0.99,0.00:60,60,60,60:42.0,9.1,11.9,0.0:0,0,0,1:0,0,0,0:127,88,85,62:24,56,62,66:0,26,16,20:-,NM_025065.6(RPF1) c.616+6_616+7insT:-,NOT_FOUND:-,NOT_FOUND 1 84961139 . G . . NT END=84961564;NT GT ./. 1 84961747 . G . . NT END=84961926;NT GT ./. 1 84962054 . G . . NT END=84963111;NT GT ./. 1 84962900 rs1395418 A C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9569,C/0.04313;PC=0.003;Gene=RPF1/NM_025065.6/1;CC=c.1009-212A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,C:8:8:0:0:5,3:156,95:0.00,8.63:0.00,8.74:0.00,-0.10:0.00,0.67:0.00,0.67:0.00,0.58:60,60:33.6,55.7:0,0:0,0:13,22:125,129:13,1:-,NM_025065.6(RPF1) c.1009-212A>C:-,0.04:-,NOT_FOUND 1 84963000 rs1246159 A G 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5331,G/0.4669;PC=0.004;Gene=RPF1/NM_025065.6/1;CC=c.1009-112A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:13:0:0:14:377:44.29:38.87:5.42:1.00:1.00:1.00:60:51.4:0:0:82:68:40:NM_025065.6(RPF1) c.1009-112A>G,NM_025065.6(RPF1) c.1009-112A>G:0.41,0.41:NOT_FOUND,NOT_FOUND 1 84963154 . A . . NT END=84967527;NT GT ./. 1 84967654 . C . . NT END=84971693;NT GT ./. 1 84971775 . G . . NT END=84981976;NT GT ./. 1 84971926 rs41284589 G A 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9673,A/0.03275;PC=0.044;Gene=GNG5/NM_005274.2/1;CC=c.-152C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:9,7:272,241:26.73,0.00:0.00,0.00:26.73,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:58.8,20.7:0,0:0,0:115,109:35,42:25,20:NM_005274.2(GNG5) c.-152C>T,-:0.03,-:NOT_FOUND,- 1 84982079 . G . . NT END=84986267;NT GT ./. 1 84982259 rs2794218 T C 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.502,C/0.498;PC=0.001;Gene=SPATA1/NM_001310156.1/1;CC=c.102+181T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:182:21.06:0.00:21.06:1.00:0.00:1.00:60:32.2:0:0:69:82:21:XM_003118960.3(SPATA1) c.102+181T>C,XM_003118960.3(SPATA1) c.102+181T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 1 84986213 rs5775789 AT A 66 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=AT/0.007588,A/0.9924;DB;DBA=NA;PAF=AT/0.007588,A/0.9924;DB;DBA=NA;PAF=AT/0.007588,A/0.9924;NP=1353;PC=0.969;Gene=SPATA1/NM_001310156.1/1;CC=c.103-45delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:16:0:19:18:611:66.06:43.99:22.07:1.00:1.00:1.00:60:8.0:1:0:48:102:22:XM_003118960.3(SPATA1) c.103-54delT,XM_003118960.3(SPATA1) c.103-54delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 84986375 . G . . NT END=84988072;NT GT ./. 1 84988191 . G . . NT END=84991378;NT GT ./. 1 84991433 . G . . NT END=84991527;NT GT ./. 1 84991488 rs2292808 T G 115 nt VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.7812,G/0.2188;PC=0.001;Gene=SPATA1/NM_001310156.1/1;CC=c.382-40T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:70:47:0:0:1,35,34:8,1187,1042:-0.13,114.66,0.00:-0.01,75.06,0.00:-0.11,39.60,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:68.0,39.2,13.0:0,0,0:0,0,0:120,71,49:26,80,102:0,40,33:XM_003118960.3(SPATA1) c.382-40T>G,-:0.19,-:0.172207,- 1 84991757 . G . . NT END=84998542;NT GT ./. 1 84998445 rs6690204 C G 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.6296,G/0.3704;Gene=SPATA1/NM_001310156.1/1;CC=c.611-98C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:22:0:0:12,10:390,324:0.00,30.56:0.00,30.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.8,34.3:0,0:0,0:64,56:85,94:37,23:-,XM_003118960.3(SPATA1) c.611-98C>G:-,0.33:-,NOT_FOUND 1 84998658 . G . . NT END=84999391;NT GT ./. 1 84999227 rs11164000 G C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8379,C/0.1621;Gene=SPATA1/NM_001310156.1/1;CC=c.726-165G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,G:7:7:0:0:4,3:134,75:13.25,0.00:13.25,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:37.8,0.0:0,0:0,0:43,53:106,97:35,36:XM_003118960.3(SPATA1) c.726-165G>C,-:0.15,-:NOT_FOUND,- 1 84999450 . G . . NT END=85009884;NT GT ./. 1 84999571 rs10874451 T C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6292,C/0.3708;PC=0.001;Gene=SPATA1/NM_001310156.1/1;CC=c.783+122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,T:13:0:0:0:7,6:233,183:22.74,0.00:0.00,0.00:22.74,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:36.4,11.8:0,0:0,0:92,135:59,15:22,7:XM_003118960.3(SPATA1) c.783+122T>C,-:0.33,-:NOT_FOUND,- 1 85009894 rs12143652 A G 31 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.7642,G/0.2358;PC=0.131;Gene=SPATA1/NM_001310156.1/1;CC=c.793A>G;ProtCh=p.K265E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:32:0:0:26,11:785,359:0.00,31.38:0.00,19.11:0.00,12.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,32.6:0,0:0,0:38,62:111,89:28,38:-,XM_003118960.3(SPATA1) c.793A>G (p.Lys265Glu):-,0.21:-,0.231929 1 85010004 . C . . NT END=85011316;NT GT ./. 1 85011443 . G . . NT END=85014468;NT GT ./. 1 85011584 rs17374753 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.9681,C/0.03195;Gene=SPATA1/NM_001310156.1/1;CC=c.1012+142T>C;VC=Intron;DM=SPATA1/SPATA1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:1:0:0:10,13:336,389:31.54,0.00:3.41,0.00:28.12,0.00:1.00,0.00:0.62,0.00:1.00,0.00:60,60:37.5,13.4:0,0:0,0:112,105:38,46:17,16:XM_003118960.3(SPATA1) c.1012+142T>C,-:0.03,-:NOT_FOUND,- 1 85014433 rs537289291 CTTTTTTTTTTTTTTT C 23 idl,nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=CTTTTTTTTTTTTTTT/0.03594,C/0.9641;NP=5;PC=0.739;Gene=SPATA1/NM_001310156.1/1;CC=c.1013-19_1013-5delTTTTTTTTTTTTTTT;VC=Intron;DM=SPATA1/SPATA1_C;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTTTTTTTTTTTTT,C:43:46:0:22:34,9:991,519:0.00,22.66:0.00,19.97:0.00,2.69:0.00,0.98:0.00,1.00:0.00,0.86:60,60:22.7,71.1:0,8:0,0:97,60:30,87:29,19:-,XM_003118960.3(SPATA1) c.1013-35_1013-21delTTTTTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 85014648 . G . . NT END=85016114;NT GT ./. 1 85016177 rs1400777 A G 187 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.5238,G/0.4762;PC=1.000;Gene=SPATA1/NM_001310156.1/1;CC=c.1254A>G;ProtCh=p.L418=;VC=Silent;DM=SPATA1/SPATA1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:G:49:37:0:0:49:1639:187.22:98.65:88.57:1.00:1.00:1.00:60:36.8:0:0:91:53:25:XM_003118960.3(SPATA1) c.1254A>G (p.(=)),XM_003118960.3(SPATA1) c.1254A>G (p.(=)):0.43,0.43:0.460634,0.460634 1 85016403 rs2911593 A G 172 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.5236,G/0.4764;PC=0.003;Gene=SPATA1/NM_001310156.1/1;CC=c.1290+190A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:31:0:0:46:1505:172.31:93.52:78.80:1.00:1.00:1.00:60:50.1:0:0:77:63:26:XM_003118960.3(SPATA1) c.1290+190A>G,XM_003118960.3(SPATA1) c.1290+190A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 85017077 . a . . NT END=85018717;NT GT ./. 1 85018808 . G . . NT END=85020681;NT GT ./. 1 85020883 . C . . NT END=85028939;NT GT ./. 1 85029077 rs15911 C T 73 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.8518,T/0.1482;PC=0.989;Gene=CTBS/NM_004388.2/1;CC=c.820G>A;ProtCh=p.V274I;VC=Missense;DM=CTBS/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:31:0:0:30,24:1032,779:0.00,73.24:0.00,36.38:0.00,36.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,39.6:0,0:0,0:93,92:52,58:26,38:-,NM_004388.2(CTBS) c.820G>A (p.Val274Ile):-,0.13:-,0.187202 1 85029102 . C . . NT END=85029417;NT GT ./. 1 85029598 . C . . NT END=85031523;NT GT ./. 1 85031492 rs41284599 T C 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9683,C/0.03175;PC=0.001;Gene=CTBS/NM_004388.2/1;CC=c.697+32A>G;VC=Intron;DM=CTBS/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:23:0:0:14,10:473,326:46.90,0.00:32.65,0.00:14.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,0.0:0,0:0,0:52,66:98,83:23,26:NM_004388.2(CTBS) c.697+32A>G,-:0.03,-:0.055862,- 1 85031630 rs2994953 G A 78 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.7033,A/0.2967;PC=0.996;Gene=CTBS/NM_004388.2/1;CC=c.591C>T;ProtCh=p.I197=;VC=Silent;DM=CTBS/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:30:0:0:25,18:784,581:77.55,0.00:35.81,0.00:41.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,2.5:0,0:0,0:76,69:75,81:26,23:NM_004388.2(CTBS) c.591C>T (p.(=)),-:0.26,-:0.282024,- 1 85031696 . C . . NT END=85035613;NT GT ./. 1 85035823 . C . . NT END=85036264;NT GT ./. 1 85036239 rs2303306 C G 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.5595,G/0.4405;Gene=CTBS/NM_004388.2/1;CC=c.316+26G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:36:0:0:25,16:798,507:0.00,46.45:0.00,32.49:0.00,13.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,39.6:0,0:0,0:68,50:80,100:28,22:-,NM_004388.2(CTBS) c.316+26G>C:-,0.39:-,0.421101 1 85036404 . C . . NT END=85039598;NT GT ./. 1 85036784 rs12141472 C T 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8544,T/0.1456;PC=0.002;Gene=CTBS/NM_004388.2/1;CC=c.178-381G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:5:0:0:0:1,4:36,106:0.00,11.38:0.00,0.00:0.00,11.38:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,60.8:0,0:0,0:72,128:79,22:0,11:-,NM_004388.2(CTBS) c.178-381G>A:-,0.13:-,NOT_FOUND 1 85039828 rs41299545 G A 196 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=G/0.7113,A/0.2887;PC=0.002;Gene=CTBS/NM_004388.2/1;CC=c.177+94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:156:119:0:0:68,88:2095,2798:195.51,0.00:116.80,0.00:78.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,8.6:0,0:0,0:79,56:63,89:35,33:NM_004388.2(CTBS) c.177+94C>T,-:0.26,-:NOT_FOUND,- 1 85039955 rs2303307 G A 262 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=191;DB;DBA=NA;PAF=G/0.7258,A/0.2742;PC=1.000;Gene=CTBS/NM_004388.2/1;CC=c.144C>T;ProtCh=p.L48=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:191:129:0:0:88,103:2769,3460:261.62,0.00:123.10,0.00:138.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:54.3,5.3:0,0:0,0:62,74:88,72:30,34:NM_004388.2(CTBS) c.144C>T (p.(=)),-:0.24,-:0.250117,- 1 85039998 rs3217269 CGCAGCGCCA C 183 PASS VT=DEL;SST=Single;DP=182;DB;DBA=NA;PAF=CGCAGCGCCA/0.6931,C/0.3069;DB;DBA=NA;PAF=CGCAGCGCCA/0.6931,C/0.3069;NP=24;PC=0.407;Gene=CTBS/NM_004388.2/1;CC=c.92_100delTGGCGCTGC;ProtCh=p.L31_L33del;VC=InFrameDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGCAGCGCCA,C:182:122:0:63:119,63:3660,2034:0.00,182.53:0.00,83.07:0.00,99.46:0.00,1.00:0.00,1.00:0.00,1.00:70,60:11.5,65.5:0,0:0,0:100,74:46,74:35,26:-,NM_004388.2(CTBS) c.74TGGCGCTGC[2] (p.Leu22_Leu24[3]):-,NOT_FOUND:-,0.257445 1 85040024 . CAGCAGCGCT C 261 PASS VT=DEL;SST=Single;DP=174;NP=10;Gene=CTBS/NM_004388.2/1;CC=c.66_74delAGCGCTGCT;ProtCh=p.L31_L33del;VC=InFrameDel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CAGCAGCGCT,T,C:174:112:0:85:1,87,1,85:11,2853,28,2720:-0.15,0.00,0.86,260.78:-0.01,0.00,1.00,111.43:-0.13,0.00,-0.13,149.35:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,55,70:30.0,61.3,57.0,4.3:0,0,0,0:0,0,0,0:118,76,147,57:33,69,1,84:0,35,0,28:-,NM_004388.2(CTBS) c.66_74delAGCGCTGCT (p.Leu22_Leu24[3]):-,NOT_FOUND:-,0.146238 1 85040069 rs2911592 G A 209 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=169;DB;DBA=NA;PAF=G/0.7278,A/0.2722;PC=0.002;Gene=CTBS/NM_004388.2/1;CC=c.30C>T;ProtCh=p.R10=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:169:103:0:0:71,97,1:2246,3137,12:208.78,0.00,-0.15:82.25,0.00,-0.01:126.53,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,70,70:84.8,9.5,37.0:0,0,0:0,0,0:97,76,50:47,66,100:25,31,0:NM_004388.2(CTBS) c.30C>T (p.(=)),-:0.24,-:0.190314,- 1 85040070 rs115347546 C A 220 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=168;DB;DBA=NA;PAF=C/0.8474,A/0.1526;Gene=CTBS/NM_004388.2/1;CC=c.29G>T;ProtCh=p.R10L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:168:102:0:0:71,97:2354,3108:219.63,0.00:86.31,0.00:133.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:82.6,11.2:0,0:0,0:95,77:51,62:27,32:NM_004388.2(CTBS) c.29G>T (p.Arg10Leu),-:0.14,-:0.125438,- 1 85040164 . g . . NT END=85047960;NT GT ./. 1 85040198 . GGGGAGGGGC G 13 nt VT=DEL;SST=Single;DP=35;NP=2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:GGGGAGGGGC,G:35:27:0:6:29,6:808,175:0.00,13.42:0.00,9.83:0.00,3.59:0.00,0.89:0.00,0.98:0.00,0.76:60,60:36.6,23.0:0,0:0,0:125,69:19,70:20,30:-,NM_004388.2(CTBS) c.-65-u44_-65-u36delGCCCCTCCC:-,NOT_FOUND:-,NOT_FOUND 1 85048027 . C . . NT END=85113115;NT GT ./. 1 85048148 rs72950380 C A 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8832,A/0.1168 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,C:16:0:0:0:4,12:127,326:10.71,0.00:0.00,0.00:10.71,0.00:0.75,0.00:0.00,0.00:0.75,0.00:60,60:59.8,19.2:0,0:0,0:130,71:20,79:6,56:chr1 g.85048147C>A (intergenic),-:0.11,-:NOT_FOUND,- 1 85113203 rs2994949 T C 183 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.2374,A/.,C/0.7626,G/.;Gene=SSX2IP/NM_001166295.1/0;CC=c.1677A>G;ProtCh=p.A559=;VC=Silent;Gene=SSX2IP/NM_001166417.1/0;CC=c.1758A>G;ProtCh=p.A586=;VC=Silent;Gene=SSX2IP/NM_001166293.1/0;CC=c.1758A>G;ProtCh=p.A586=;VC=Silent;Gene=SSX2IP/NM_001166294.1/0;CC=c.1677A>G;ProtCh=p.A559=;VC=Silent;Gene=SSX2IP/NM_014021.3/1;CC=c.1758A>G;ProtCh=p.A586=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:101:72:0:0:57,1,43:1853,11,1441:182.77,-0.06,0.00:102.66,0.04,0.00:80.11,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.4,133.0,2.4:0,0,0:0,0,0:88,116,69:59,35,73:24,0,30:NM_001166417.1(SSX2IP) c.1758A>G (p.(=)),-:0.79,-:0.777453,- 1 85113229 rs1057746 A G 184 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.4874,C/.,G/0.5126;PC=0.750;Gene=SSX2IP/NM_001166295.1/0;CC=c.1651T>C;ProtCh=p.C551R;VC=Missense;Gene=SSX2IP/NM_001166417.1/0;CC=c.1732T>C;ProtCh=p.C578R;VC=Missense;Gene=SSX2IP/NM_001166293.1/0;CC=c.1732T>C;ProtCh=p.C578R;VC=Missense;Gene=SSX2IP/NM_001166294.1/0;CC=c.1651T>C;ProtCh=p.C551R;VC=Missense;Gene=SSX2IP/NM_014021.3/1;CC=c.1732T>C;ProtCh=p.C578R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:100:64:0:0:42,58:1323,1861:0.00,184.18:0.00,70.93:0.00,113.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,62.0:0,0:0,0:88,73:59,77:29,39:-,NM_001166417.1(SSX2IP) c.1732T>C (p.Cys578Arg):-,0.56:-,0.516838 1 85113291 . C . . NT END=85116044;NT GT ./. 1 85113435 rs56138762 G GA 13 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.494,GA/0.506;DB;DBA=NA;PAF=G/0.494,GA/0.506;DB;DBA=NA;PAF=G/0.494,GA/0.506;NP=235;PC=0.033;Gene=SSX2IP/NM_001166295.1/0;CC=c.1590-146dupT;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.1671-146dupT;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.1671-146dupT;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.1590-146dupT;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.1671-146dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:G,GA:15:1:7:0:9,6:259,166:0.00,12.57:0.00,-0.20:0.00,12.77:0.00,0.95:0.00,0.58:0.00,1.00:60,70:23.1,58.7:1,1:0,0:101,114:48,36:35,5:-,NM_001166417.1(SSX2IP) c.1671-146_1671-145insT:-,NOT_FOUND:-,NOT_FOUND 1 85115852 rs2298076 G T 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2396,T/0.7604;Gene=SSX2IP/NM_001166295.1/0;CC=c.1589+193C>A;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.1670+193C>A;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.1670+193C>A;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.1589+193C>A;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.1670+193C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:G,T:8:8:0:0:5,3:169,74:0.00,6.50:0.00,6.50:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:0.0,56.7:0,0:0,0:10,50:141,101:9,21:-,NM_001166417.1(SSX2IP) c.1670+193C>A:-,0.79:-,NOT_FOUND 1 85116211 . C . . NT END=85117565;NT GT ./. 1 85116393 rs11349588 CT C 37 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CT/0.1819,C/0.8181;NP=480;PC=0.004;Gene=SSX2IP/NM_001166295.1/0;CC=c.1424-184delA;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.1505-184delA;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.1505-184delA;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.1424-184delA;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.1505-184delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:CT,C:12:0:0:11:1,11:34,337:0.00,37.45:0.00,0.00:0.00,37.45:0.00,1.00:0.00,0.00:0.00,1.00:60,60:35.0,5.9:0,0:0,0:143,102:8,48:0,27:-,NM_001166417.1(SSX2IP) c.1505-184delA:-,NOT_FOUND:-,NOT_FOUND 1 85117681 . C . . NT END=85121000;NT GT ./. 1 85121206 rs17113387 C T 114 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.9143,T/0.08566;Gene=SSX2IP/NM_001166295.1/0;CC=c.1308+309G>A;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.1389+309G>A;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.1389+309G>A;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.1308+309G>A;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.1389+309G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:42:0:0:31,35:927,1170:0.00,113.90:0.00,56.37:0.00,57.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.8,39.0:0,0:0,0:66,73:84,77:29,23:-,NM_001166417.1(SSX2IP) c.1389+309G>A:-,0.08:-,NOT_FOUND 1 85121255 rs4537578 A G 117 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.4854,G/0.5146;Gene=SSX2IP/NM_001166295.1/0;CC=c.1308+260T>C;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.1389+260T>C;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.1389+260T>C;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.1308+260T>C;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.1389+260T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:48:0:0:33,39:1108,1204:0.00,117.36:0.00,56.53:0.00,60.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.5,37.9:0,0:0,0:102,75:48,69:30,38:-,NM_001166417.1(SSX2IP) c.1389+260T>C:-,0.56:-,NOT_FOUND 1 85121272 . C . . NT END=85121514;NT GT ./. 1 85121689 . C . . NT END=85122030;NT GT ./. 1 85122168 . C . . NT END=85124000;NT GT ./. 1 85123713 rs2911561 C G 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3219,G/0.6781;PC=0.071;Gene=SSX2IP/NM_001166295.1/0;CC=c.997+288G>C;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.1078+288G>C;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.1078+288G>C;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.997+288G>C;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.1078+288G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:258:30.07:30.07:0.00:1.00:1.00:0.00:60:42.9:0:0:42:108:34:NM_001166417.1(SSX2IP) c.1078+288G>C,NM_001166417.1(SSX2IP) c.1078+288G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 85123819 rs2994440 A G 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1268,G/0.8732;Gene=SSX2IP/NM_001166295.1/0;CC=c.997+182T>C;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.1078+182T>C;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.1078+182T>C;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.997+182T>C;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.1078+182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:350:41.16:41.16:0.00:1.00:1.00:0.00:60:41.0:0:0:91:59:22:NM_001166417.1(SSX2IP) c.1078+182T>C,NM_001166417.1(SSX2IP) c.1078+182T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 85124152 . C . . NT END=85127880;NT GT ./. 1 85128059 . C . . NT END=85128137;NT GT ./. 1 85128214 . C . . NT END=85130099;NT GT ./. 1 85128262 rs2911563 A G 125 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.3219,G/0.6781;Gene=SSX2IP/NM_001166295.1/0;CC=c.593-49T>C;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.674-49T>C;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.674-49T>C;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.593-49T>C;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.674-49T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:13:0:0:34:1086:124.80:27.83:96.97:1.00:1.00:1.00:60:72.8:0:0:103:29:23:NM_001166417.1(SSX2IP) c.674-49T>C,NM_001166417.1(SSX2IP) c.674-49T>C:0.73,0.73:0.728574,0.728574 1 85128280 rs2994437 T C 102 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.1478,C/0.8522;Gene=SSX2IP/NM_001166295.1/0;CC=c.593-67A>G;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.674-67A>G;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.674-67A>G;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.593-67A>G;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.674-67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:8:0:0:28:891:102.39:17.60:84.79:1.00:1.00:1.00:60:84.2:0:0:104:46:33:NM_001166417.1(SSX2IP) c.674-67A>G,NM_001166417.1(SSX2IP) c.674-67A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 85128305 rs11164033 G C 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4852,C/0.5148;Gene=SSX2IP/NM_001166295.1/0;CC=c.593-92C>G;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.674-92C>G;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.674-92C>G;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.593-92C>G;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.674-92C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:1:0:0:9,10:295,304:28.10,0.00:-0.28,0.00:28.37,0.00:1.00,0.00:0.65,0.00:1.00,0.00:60,60:105.0,80.6:0,0:0,0:103,121:48,28:28,12:NM_001166417.1(SSX2IP) c.674-92C>G,-:0.56,-:NOT_FOUND,- 1 85128409 rs2911564 T A 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3219,A/0.6781;Gene=SSX2IP/NM_001166295.1/0;CC=c.593-196A>T;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.674-196A>T;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.674-196A>T;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.593-196A>T;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.674-196A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,T:10:0:0:0:9,1:294,7:32.52,0.00:0.00,0.00:32.52,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.2,44.0:0,0:0,0:64,125:85,23:29,0:NM_001166417.1(SSX2IP) c.674-196A>T,NM_001166417.1(SSX2IP) c.674-196A>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 85130236 . C . . NT END=85131804;NT GT ./. 1 85131641 rs2911566 G C 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3217,C/0.6783;Gene=SSX2IP/NM_001166295.1/0;CC=c.456+164C>G;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.537+164C>G;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.537+164C>G;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.456+164C>G;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.537+164C>G;VC=Intron;DM=SSX2IP/ADIP;DM=SSX2IP/ADIP;DM=SSX2IP/ADIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:294:33.69:33.69:0.00:1.00:1.00:0.00:60:59.6:0:0:58:93:22:NM_001166417.1(SSX2IP) c.537+164C>G,NM_001166417.1(SSX2IP) c.537+164C>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 85131916 . C . . NT END=85135363;NT GT ./. 1 85131982 rs3096445 T G 124 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.1478,G/0.8522;PC=0.010;Gene=SSX2IP/NM_001166295.1/0;CC=c.346-67A>C;VC=Intron;Gene=SSX2IP/NM_001166417.1/0;CC=c.427-67A>C;VC=Intron;Gene=SSX2IP/NM_001166293.1/0;CC=c.427-67A>C;VC=Intron;Gene=SSX2IP/NM_001166294.1/0;CC=c.346-67A>C;VC=Intron;Gene=SSX2IP/NM_014021.3/1;CC=c.427-67A>C;VC=Intron;DM=SSX2IP/ADIP;DM=SSX2IP/ADIP;DM=SSX2IP/ADIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:C,G:35:5:0:0:1,34:22,1080:1.17,123.72:0.00,14.66:1.17,109.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.0,38.4:0,0:0,0:29,111:122,37:0,19:NM_001166417.1(SSX2IP) c.427-67A>C,NM_001166417.1(SSX2IP) c.427-67A>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 85135577 . C . . NT END=85136328;NT GT ./. 1 85136499 . C . . NT END=85136859;NT GT ./. 1 85136992 . C . . NT END=85279528;NT GT ./. 1 85279855 . C . . NT END=85331067;NT GT ./. 1 85331804 . T . . NT END=85392367;NT GT ./. 1 85331808 rs58203951 G GAGA 172 nt VT=INS;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.258,GAGA/0.742;DB;DBA=NA;PAF=G/0.258,GAAA/.,GAGA/0.742;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.258,GAGA/0.742;NP=1;NP=3038;PC=1.000;Gene=LPAR3/NM_012152.2/1;CC=c.-8_-6dupTCT;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GAGA:112:44:55:0:57,55:1901,1792:0.00,171.72:0.00,50.62:0.00,121.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,5.9:0,0:0,0:115,86:36,57:24,29:-,NM_012152.2(LPAR3) c.-8_-6dupTCT:-,NOT_FOUND:-,0.779153 1 85392324 rs6681025 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7368,T/0.2632;Gene=MCOLN2/NM_153259.3/1;CC=c.*44G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:24:19:0:0:16,1,7:445,5,243:0.00,-0.20,21.53:0.00,-0.08,10.36:0.00,-0.13,11.18:0.00,0.00,0.97:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:9.7,14.0,39.7:0,0,0:0,0,0:54,92,58:97,59,93:27,0,21:-,NM_153259.2(MCOLN2) c.*44G>A:-,0.3:-,0.238813 1 85392405 . C . . NT END=85395240;NT GT ./. 1 85395363 . C . . NT END=85397044;NT GT ./. 1 85395616 rs610149 T A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=MCOLN2/NM_153259.3/1;CC=c.1543-254A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,T:5:0:0:0:3,2:98,60:9.77,0.00:0.00,0.00:9.77,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:50.7,11.0:0,0:0,0:102,136:49,14:6,9:NM_153259.2(MCOLN2) c.1543-254A>T,-:0.45,-:NOT_FOUND,- 1 85397252 . C . . NT END=85403247;NT GT ./. 1 85403145 rs619501 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3498,T/0.6502;Gene=MCOLN2/NM_153259.3/1;CC=c.1335+293G>A;VC=Intron;DM=MCOLN2/PKD_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:12:12:0:0:5,7:142,227:0.00,22.51:0.00,22.51:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:10.2,36.6:0,0:0,0:73,57:78,93:45,38:-,NM_153259.2(MCOLN2) c.1335+293G>A:-,0.62:-,NOT_FOUND 1 85403277 . C . . NT END=85403437;NT GT ./. 1 85403561 . C . . NT END=85403663;NT GT ./. 1 85403766 . C . . NT END=85405235;NT GT ./. 1 85405386 . C . . NT END=85406561;NT GT ./. 1 85406675 . C . . NT END=85412715;NT GT ./. 1 85412816 . C . . NT END=85417925;NT GT ./. 1 85417779 rs679961 G A 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3738,A/0.6262;PC=0.001;Gene=MCOLN2/NM_153259.3/1;CC=c.747+147C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:15:0:1:15:469:54.05:50.17:3.88:1.00:1.00:1.00:60:50.4:0:0:23:127:21:NM_153259.2(MCOLN2) c.747+147C>T,NM_153259.2(MCOLN2) c.747+147C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 85418023 . C . . NT END=85418128;NT GT ./. 1 85418214 . C . . NT END=85422113;NT GT ./. 1 85418307 rs677476 C G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4295,G/0.5705;Gene=MCOLN2/NM_153259.3/1;CC=c.566-94G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,G:9:1:0:0:5,4:132,126:0.00,11.83:0.00,2.82:0.00,9.00:0.00,0.85:0.00,0.63:0.00,0.98:60,60:11.4,31.5:0,0:0,0:111,114:40,36:36,2:-,NM_153259.2(MCOLN2) c.566-94G>C:-,0.56:-,NOT_FOUND 1 85422061 rs632545 C T 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.4469,T/0.5531;Gene=MCOLN2/NM_153259.3/1;CC=c.565+53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:32:0:0:18,19:576,609:0.00,58.82:0.00,46.14:0.00,12.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,41.7:0,0:0,0:59,45:91,106:24,28:-,NM_153259.2(MCOLN2) c.565+53G>A:-,0.55:-,NOT_FOUND 1 85422268 . C . . NT END=85424211;NT GT ./. 1 85422378 rs550766 T C 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6294,C/0.3706;Gene=MCOLN2/NM_153259.3/1;CC=c.412-111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:3:0:0:11,12:358,327:34.18,0.00:2.53,0.00:31.64,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:33.5,23.8:0,0:0,0:108,109:43,40:23,18:NM_153259.2(MCOLN2) c.412-111A>G,-:0.36,-:NOT_FOUND,- 1 85424182 rs673998 A G 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.6302,G/0.3698;PC=0.063;Gene=MCOLN2/NM_153259.3/1;CC=c.411+30T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:21:0:0:8,21:259,616:0.00,64.13:0.00,41.88:0.00,22.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,35.5:0,0:0,0:27,74:112,77:19,16:-,NM_153259.2(MCOLN2) c.411+30T>C:-,0.36:-,0.373039 1 85424386 . C . . NT END=85431231;NT GT ./. 1 85424479 rs674182 A G 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6302,G/0.3698;Gene=MCOLN2/NM_153259.3/1;CC=c.238-94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G:14:6:0:0:6,8:160,255:0.00,25.20:0.00,8.75:0.00,16.45:0.00,1.00:0.00,0.99:0.00,1.00:60,60:18.5,40.8:0,0:0,0:118,129:32,20:22,8:-,NM_153259.2(MCOLN2) c.238-94T>C:-,0.36:-,NOT_FOUND 1 85431392 . C . . NT END=85462478;NT GT ./. 1 85462556 . G . . NT END=85484805;NT GT ./. 1 85462582 rs11161503 C G 91 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.5479,G/0.4521,T/.;Gene=MCOLN2/NM_153259.3/1;CC=c.-27G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:56:30:0:0:27,29:939,941:0.00,91.07:0.00,26.90:0.00,64.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,56.0:0,0:0,0:87,83:53,48:18,20:-,NM_153259.2(MCOLN2) c.-27G>C:-,0.46:-,0.420114 1 85462652 rs11161504 G T 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.5485,T/0.4515;Gene=MCOLN2/NM_153259.3/1;CC=c.-97C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:24:1:0:0:10,14:339,385:0.00,37.95:0.00,-0.19:0.00,38.14:0.00,1.00:0.00,0.72:0.00,1.00:60,60:0.0,87.8:0,0:0,0:138,115:13,35:2,25:-,NM_153259.2(MCOLN2) c.-97C>A:-,0.46:-,NOT_FOUND 1 85462665 rs11161505 T G 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.5485,G/0.4515;PC=0.163;Gene=MCOLN2/NM_153259.3/1;CC=c.-110A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:G,T:16:0:0:0:10,6:278,180:27.96,0.00:0.00,0.00:27.96,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:97.1,3.0:0,0:0,0:104,126:46,24:26,23:NM_153259.2(MCOLN2) c.-110A>C,-:0.46,-:NOT_FOUND,- 1 85462750 rs920340 T C 30 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.08127,C/0.9187;Gene=MCOLN2/NM_153259.3/1;CC=c.-195A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:1:0:0:10:258:30.39:1.99:28.40:1.00:1.00:1.00:60:71.9:0:0:91:59:25:NM_153259.2(MCOLN2) c.=,NM_153259.2(MCOLN2) c.=:0.93,0.93:NOT_FOUND,NOT_FOUND 1 85484941 . C . . NT END=85486752;NT GT ./. 1 85486960 . C . . NT END=85487752;NT GT ./. 1 85487876 . C . . NT END=85487981;NT GT ./. 1 85488030 rs2028304 G A 167 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.2039,A/0.7961;Gene=MCOLN3/NM_001253693.1/0;CC=c.981C>T;ProtCh=p.L327=;VC=Silent;Gene=MCOLN3/NM_018298.10/1;CC=c.1149C>T;ProtCh=p.L383=;VC=Silent;DM=MCOLN3/PKD_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A:45:20:0:0:45:1453:166.75:56.27:110.49:1.00:1.00:1.00:60:48.1:0:0:85:63:34:NM_018298.10(MCOLN3) c.1149C>T (p.(=)),NM_018298.10(MCOLN3) c.1149C>T (p.(=)):0.79,0.79:0.850454,0.850454 1 85488084 . C . . NT END=85491621;NT GT ./. 1 85488154 rs2039814 G C 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.05451,C/0.9455;Gene=MCOLN3/NM_001253693.1/0;CC=c.928-71C>G;VC=Intron;Gene=MCOLN3/NM_018298.10/1;CC=c.1096-71C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:4:0:0:13:410:47.15:11.88:35.27:1.00:1.00:1.00:60:47.5:0:0:83:67:31:NM_018298.10(MCOLN3) c.1096-71C>G,NM_018298.10(MCOLN3) c.1096-71C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 85491271 rs560763550 TA T 12 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TA/0.5148,T/0.4852;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TA/0.5148,T/0.4852;NP=157;PC=0.517;Gene=MCOLN3/NM_001253693.1/0;CC=c.927+350delT;VC=Intron;Gene=MCOLN3/NM_018298.10/1;CC=c.1095+350delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TA,T:5:5:0:4:1,4:33,114:0.00,12.21:0.00,12.21:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:24.0,16.8:0,0:0,0:46,53:105,96:0,19:-,NM_018298.10(MCOLN3) c.1095+350delT:-,NOT_FOUND:-,NOT_FOUND 1 85491772 . C . . NT END=85491854;NT GT ./. 1 85491968 . C . . NT END=85494788;NT GT ./. 1 85494889 . C . . NT END=85498378;NT GT ./. 1 85498476 . C . . NT END=85498554;NT GT ./. 1 85498640 . C . . NT END=85499780;NT GT ./. 1 85499935 . C . . NT END=85506692;NT GT ./. 1 85506861 . C . . NT END=85510815;NT GT ./. 1 85507074 rs6576744 G T 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.002596,T/0.9974;NP=503;PC=0.001;Gene=MCOLN3/NM_001253693.1/0;CC=c.228+3742C>A;VC=Intron;Gene=MCOLN3/NM_018298.10/1;CC=c.229-214C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:189:21.76:0.00:21.76:1.00:0.00:1.00:60:41.0:0:0:83:67:36:NM_018298.10(MCOLN3) c.229-214C>A,NM_018298.10(MCOLN3) c.229-214C>A:1,1:NOT_FOUND,NOT_FOUND 1 85511044 . C . . NT END=85537624;NT GT ./. 1 85537502 rs4907131 T A 105 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.2063,A/0.7937;PC=0.052;Gene=WDR63/NM_001288563.1/0;CC=c.-14-109T>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.-14-109T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:30:0:0:30:909:105.13:102.41:2.72:1.00:1.00:1.00:60:68.7:0:0:34:116:25:NM_145172.3(WDR63) c.-14-109T>A,NM_145172.3(WDR63) c.-14-109T>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 85537522 rs4907132 T C 125 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.2258,C/0.7742;PC=0.421;Gene=WDR63/NM_001288563.1/0;CC=c.-14-89T>C;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.-14-89T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:34:0:0:34:1092:125.34:120.03:5.32:1.00:1.00:1.00:60:64.4:0:0:50:98:27:NM_145172.3(WDR63) c.-14-89T>C,NM_145172.3(WDR63) c.-14-89T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 85537689 . G . . NT END=85538736;NT GT ./. 1 85537890 rs7527292 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2408,A/0.7592;PC=0.018;Gene=WDR63/NM_001288563.1/0;CC=c.64+202G>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.64+202G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:40.8:0:0:85:65:33:NM_145172.3(WDR63) c.64+202G>A,NM_145172.3(WDR63) c.64+202G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 85538603 rs4907022 C A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8678,A/0.1322;PC=0.002;Gene=WDR63/NM_001288563.1/0;CC=c.65-134C>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.65-134C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:16:0:0:7,9:239,294:22.48,0.00:22.48,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:45.1,6.9:0,0:0,0:30,79:121,72:25,52:NM_145172.3(WDR63) c.65-134C>A,-:0.12,-:NOT_FOUND,- 1 85538655 rs76961293 A G,AG 47 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:168:A,G,AG:20:19:10:0:1,13,6:29,442,304:0.00,46.60,17.33:0.00,22.58,17.33:0.00,24.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,38.5,69.8:0,0,4:0,0,0:142,17,50:8,131,100:0,11,18:NM_145172.3(WDR63) c.65-82A>G,NM_145172.3(WDR63) c.65-82_65-81insG:0.37,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 85538776 . G . . NT END=85546916;NT GT ./. 1 85538879 rs11161517 G A 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8267,A/0.1733;PC=0.003;Gene=WDR63/NM_001288563.1/0;CC=c.103+104G>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.103+104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:11:0:0:0:7,4:236,137:23.81,0.00:0.00,0.00:23.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.4,29.0:0,0:0,0:97,59:53,91:6,27:NM_145172.3(WDR63) c.103+104G>A,-:0.16,-:NOT_FOUND,- 1 85538947 rs4907133 A G 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3117,G/0.6883;PC=0.003;Gene=WDR63/NM_001288563.1/0;CC=c.103+172A>G;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.103+172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:205:23.36:0.00:23.36:1.00:0.00:1.00:60:39.8:0:0:99:51:40:NM_145172.3(WDR63) c.103+172A>G,NM_145172.3(WDR63) c.103+172A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 85547099 . G . . NT END=85547982;NT GT ./. 1 85547270 rs10782539 A G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4471,G/0.5529;PC=0.020;Gene=WDR63/NM_001288563.1/0;CC=c.285+172A>G;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.285+172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,G:15:0:0:0:9,6:274,166:0.00,15.08:0.00,0.00:0.00,15.08:0.00,0.96:0.00,0.00:0.00,0.96:60,60:31.9,35.7:0,0:0,0:102,95:35,55:26,13:-,NM_145172.3(WDR63) c.285+172A>G:-,0.56:-,NOT_FOUND 1 85547809 rs7542253 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4469,A/0.5531;PC=0.111;Gene=WDR63/NM_001288563.1/0;CC=c.286-174G>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.286-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:A,C,G:7:7:0:0:5,1,1:135,11,29:14.58,0.70,0.00:14.58,0.70,0.00:0.00,0.00,0.00:0.98,0.00,0.00:0.98,0.00,0.00:0.00,0.00,0.00:60,60,60:57.2,75.0,51.0:0,0,0:0,0,0:6,122,1:132,29,150:6,0,0:NM_145172.3(WDR63) c.286-174G>A,-:0.56,-:NOT_FOUND,- 1 85547945 rs7534574 T C 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5619,C/0.4381;Gene=WDR63/NM_001288563.1/0;CC=c.286-38T>C;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.286-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:27:0:0:17,10:510,319:51.28,0.00:41.96,0.00:9.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,13.0:0,0:0,0:51,52:100,91:22,24:NM_145172.3(WDR63) c.286-38T>C,-:0.45,-:0.508232,- 1 85548088 . G . . NT END=85550228;NT GT ./. 1 85550019 rs11161523 C T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8139,T/0.1861;Gene=WDR63/NM_001288563.1/0;CC=c.391-210C>T;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.391-210C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:5:5:0:0:2,3:66,90:0.00,8.97:0.00,8.97:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:33.0,112.7:0,0:0,0:28,22:121,129:0,9:-,NM_145172.3(WDR63) c.391-210C>T:-,0.17:-,NOT_FOUND 1 85550156 rs397778729 A AAT 41 rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.5717,AAT/0.4283,AATAT/.;DB;DBA=NA;PAF=A/0.5717,AAT/0.4283;NP=3;NP=411;PC=0.015;Gene=WDR63/NM_001288563.1/0;CC=c.391-56_391-55insTA;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.391-56_391-55insTA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAT,D:35:34:14:2:19,14,2:624,441,60:0.00,40.99,3.99:0.00,37.05,4.08:0.00,3.94,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,70,60:17.1,9.6,5.5:0,0,0:0,0,0:60,44,51:90,106,98:33,23,25:-,NM_145172.3(WDR63) c.391-73_391-72insAT:-,NOT_FOUND:-,NOT_FOUND 1 85550379 . G . . NT END=85551513;NT GT ./. 1 85550618 rs11161524 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8181,T/0.1819;PC=0.007;Gene=WDR63/NM_001288563.1/0;CC=c.540+240C>T;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.540+240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:0:0:0:2,3:70,98:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.78:0.00,0.00:0.00,0.78:60,60:29.0,32.7:0,0:0,0:103,127:47,23:37,9:-,NM_145172.3(WDR63) c.540+240C>T:-,0.17:-,NOT_FOUND 1 85551423 rs12130198 A G 55 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7957,G/0.2043;Gene=WDR63/NM_001288563.1/0;CC=c.541-91A>G;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.541-91A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:25:0:0:8,17:243,537:0.00,54.97:0.00,53.31:0.00,1.66:0.00,1.00:0.00,1.00:0.00,0.91:70,60:12.8,40.9:0,0:0,0:35,58:115,89:23,37:-,NM_145172.3(WDR63) c.541-91A>G:-,0.18:-,NOT_FOUND 1 85551468 rs111823967 A ATCAGTTTTTCT 30 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.4471,ATCAATTTTTCT/.,ATCAGCTTTTCT/.,ATCAGTTTTTCT/0.5529;NP=1;NP=13;Gene=WDR63/NM_001288563.1/0;CC=c.541-42_541-41insTTTTTCTTCAG;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.541-42_541-41insTTTTTCTTCAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATCAGTTTTTCT:23:22:10:0:13,10:424,325:0.00,30.45:0.00,26.39:0.00,4.05:0.00,1.00:0.00,1.00:0.00,0.97:60,70:37.1,3.8:0,0:0,0:77,48:73,102:20,20:-,NM_145172.3(WDR63) c.541-46_541-45insTCAGTTTTTCT:-,0.56:-,0.590408 1 85551714 . G . . NT END=85555798;NT GT ./. 1 85555672 rs1417351 A C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5022,C/0.4978;Gene=WDR63/NM_001288563.1/0;CC=c.741-3469A>C;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.741-127A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,C:7:7:0:0:2,5:64,149:0.00,15.45:0.00,15.45:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:9.5,58.4:0,0:0,0:45,17:105,134:26,16:-,NM_145172.3(WDR63) c.741-127A>C:-,0.51:-,NOT_FOUND 1 85555916 . G . . NT END=85559140;NT GT ./. 1 85558477 rs71075818 T TACACAC 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=7;PC=0.039;Gene=WDR63/NM_001288563.1/0;CC=c.741-622_741-621insACACAC;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.858-622_858-621insACACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TACACAC:3:3:4:0:3:125:10.25:3.65:6.60:0.85:0.99:0.99:60:12.3:1:0:27:91:10:NM_145172.3(WDR63) c.858-664_858-663insACACAC,NM_145172.3(WDR63) c.858-664_858-663insACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 85558938 rs6660050 G A 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6793,A/0.3207;PC=0.011;Gene=WDR63/NM_001288563.1/0;CC=c.741-203G>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.858-203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:380:43.72:43.72:0.00:1.00:1.00:0.00:60:51.7:0:0:60:89:15:NM_145172.3(WDR63) c.858-203G>A,NM_145172.3(WDR63) c.858-203G>A:0.31,0.31:NOT_FOUND,NOT_FOUND 1 85559118 rs11304107 CT C 219 rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=CT/0.3734,C/0.6266;NP=2901;Gene=WDR63/NM_001288563.1/0;CC=c.741-16delT;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.858-16delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:CT,C:65:56:0:63:2,63:70,1929:0.00,219.02:0.00,160.46:0.00,58.56:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,15.2:0,0:0,0:143,56:7,88:0,26:NM_145172.3(WDR63) c.858-22delT,NM_145172.3(WDR63) c.858-22delT:0.64,0.64:0.646749,0.646749 1 85559332 . G . . NT END=85560113;NT GT ./. 1 85559452 rs709762 A G 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4287,C/.,G/0.5713;PC=0.008;Gene=WDR63/NM_001288563.1/0;CC=c.931+121A>G;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1048+121A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:0:0:0:22:696:80.00:0.00:80.00:1.00:0.00:1.00:60:38.4:0:0:104:47:34:NM_145172.3(WDR63) c.1048+121A>G,NM_145172.3(WDR63) c.1048+121A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 1 85560239 . G . . NT END=85561613;NT GT ./. 1 85560313 rs709765 T C 155 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.4281,C/0.5719;Gene=WDR63/NM_001288563.1/0;CC=c.1056+75T>C;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1173+75T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C:45:7:0:0:45:1340:155.39:20.39:135.01:1.00:1.00:1.00:60:34.2:0:0:107:43:26:NM_145172.3(WDR63) c.1173+75T>C,NM_145172.3(WDR63) c.1173+75T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 85561546 rs709766 T C 156 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.4301,C/0.5699;PC=0.001;Gene=WDR63/NM_001288563.1/0;CC=c.1057-68T>C;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1174-68T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:40:0:0:41:1360:155.52:136.18:19.33:1.00:1.00:1.00:60:38.4:0:0:46:104:35:NM_145172.3(WDR63) c.1174-68T>C,NM_145172.3(WDR63) c.1174-68T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 85561704 . G . . NT END=85563251;NT GT ./. 1 85561872 rs817596 C T 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.01617,T/0.9838;Gene=WDR63/NM_001288563.1/0;CC=c.1146+169C>T;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1263+169C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:451:51.75:0.00:51.75:1.00:0.00:1.00:60:45.1:0:0:106:44:15:NM_145172.3(WDR63) c.1263+169C>T,NM_145172.3(WDR63) c.1263+169C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 85561954 rs709767 G A 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5252,A/0.4748;Gene=WDR63/NM_001288563.1/0;CC=c.1146+251G>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1263+251G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:174:19.78:0.00:19.78:1.00:0.00:1.00:60:64.8:0:0:129:22:14:NM_145172.3(WDR63) c.1263+251G>A,NM_145172.3(WDR63) c.1263+251G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 85563339 . G . . NT END=85564212;NT GT ./. 1 85564138 rs817489 A G 176 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.4295,G/0.5705;Gene=WDR63/NM_001288563.1/0;CC=c.1234-75A>G;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1351-75A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:G:50:47:0:0:50:1528:176.45:133.01:43.43:1.00:1.00:1.00:60:39.6:0:0:59:91:28:NM_145172.3(WDR63) c.1351-75A>G,NM_145172.3(WDR63) c.1351-75A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 85564342 . G . . NT END=85564966;NT GT ./. 1 85564544 rs709770 C T 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.01617,T/0.9838;Gene=WDR63/NM_001288563.1/0;CC=c.1362+203C>T;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1479+203C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:0:0:0:20:643:73.83:0.00:73.83:1.00:0.00:1.00:60:38.2:0:0:97:53:39:NM_145172.3(WDR63) c.1479+203C>T,NM_145172.3(WDR63) c.1479+203C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 85565053 . t . . NT END=85570206;NT GT ./. 1 85570281 . G . . NT END=85573715;NT GT ./. 1 85570521 rs398053181 GTTC G 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GTTC/0.5256,G/0.4744;DB;DBA=NA;PAF=GTTC/0.5256,G/0.4744;NP=249;Gene=WDR63/NM_001288563.1/0;CC=c.1436+248_1436+250delTTC;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1553+248_1553+250delTTC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:5:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:10.8:0:0:119:31:8:NM_145172.3(WDR63) c.1553+242_1553+244delTTC,NM_145172.3(WDR63) c.1553+242_1553+244delTTC:0.46,0.46:NOT_FOUND,NOT_FOUND 1 85573705 rs201472424 A AC 161 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.9629,C/.,T/0.03714;NP=1422;NP=82;PC=0.185;Gene=WDR63/NM_001288563.1/0;CC=c.1437-11_1437-10insC;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1554-11_1554-10insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:A,C,AC:51:40:46:0:4,1,46:110,24,1447:0.00,1.17,160.73:0.00,-0.02,95.26:0.00,1.19,65.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:28.2,84.0,5.7:1,1,0:0,0,0:100,113,73:50,-2,74:22,0,30:NM_145172.3(WDR63) c.1554-11_1554-10insC,NM_145172.3(WDR63) c.1554-11_1554-10insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 85573861 . G . . NT END=85575730;NT GT ./. 1 85574021 rs709759 G A 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5248,A/0.4752;PC=0.049;Gene=WDR63/NM_001288563.1/0;CC=c.1581+161G>A;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.1698+161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:316:35.89:0.00:35.89:1.00:0.00:1.00:60:35.1:0:0:80:71:23:NM_145172.3(WDR63) c.1698+161G>A,NM_145172.3(WDR63) c.1698+161G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 85575819 . G . . NT END=85583411;NT GT ./. 1 85583543 . G . . NT END=85587433;NT GT ./. 1 85587498 . G . . NT END=85589803;NT GT ./. 1 85589935 . G . . NT END=85592193;NT GT ./. 1 85589939 rs397800986 GT G 359 nt VT=DEL;SST=Single;DP=101;DB;DBA=NA;PAF=GT/0.3347,G/0.6653;DB;DBA=NA;PAF=GT/0.3347,G/0.6653;NP=2910;PC=1.000;Gene=WDR63/NM_001288563.1/0;CC=c.1995+7delT;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.2112+7delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:GT,G:101:55:0:99:2,99:53,3157:0.00,358.68:0.00,134.71:0.00,223.97:0.00,1.00:0.00,1.00:0.00,1.00:60,70:24.5,7.1:0,0:0,0:148,91:1,48:0,30:NM_145172.3(WDR63) c.2112+6delT,NM_145172.3(WDR63) c.2112+6delT:0.64,0.64:0.665202,0.665202 1 85592013 rs2290780 A G 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3948,G/0.6052;Gene=WDR63/NM_001288563.1/0;CC=c.1996-181A>G;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.2113-181A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:490:56.61:56.61:0.00:1.00:1.00:0.00:60:45.1:0:0:41:109:27:NM_145172.3(WDR63) c.2113-181A>G,NM_145172.3(WDR63) c.2113-181A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 85592126 rs817474 G T 193 nt VT=SNV;PN=A;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.1232,T/0.8768;Gene=WDR63/NM_001288563.1/0;CC=c.1996-68G>T;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.2113-68G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:T:54:49:0:0:54:1674:192.95:160.40:32.56:1.00:1.00:1.00:60:40.2:0:0:43:104:22:NM_145172.3(WDR63) c.2113-68G>T,NM_145172.3(WDR63) c.2113-68G>T:0.89,0.89:NOT_FOUND,NOT_FOUND 1 85592399 . G . . NT END=85594390;NT GT ./. 1 85592619 rs709778 T C 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.02177,C/0.9782;Gene=WDR63/NM_001288563.1/0;CC=c.2200+221T>C;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.2317+221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:34.0:0:0:132:18:15:NM_145172.3(WDR63) c.2317+221T>C,NM_145172.3(WDR63) c.2317+221T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 85594483 . G . . NT END=85595672;NT GT ./. 1 85595645 rs1020770 C T 228 nt VT=SNV;PN=A;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.4012,T/0.5988;Gene=WDR63/NM_001288563.1/0;CC=c.2293-28C>T;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.2410-28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:T:63:56:0:0:63:1981:227.91:172.14:55.77:1.00:1.00:1.00:60:39.7:0:0:60:87:25:NM_145172.3(WDR63) c.2410-28C>T,NM_145172.3(WDR63) c.2410-28C>T:0.58,0.58:0.612025,0.612025 1 85595796 . G . . NT END=85598537;NT GT ./. 1 85595975 rs1020771 T C 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4253,C/0.5747;Gene=WDR63/NM_001288563.1/0;CC=c.2415+180T>C;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.2532+180T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:0:0:0:26:744:86.78:0.00:86.78:1.00:0.00:1.00:60:31.3:0:0:101:50:37:NM_145172.3(WDR63) c.2532+180T>C,NM_145172.3(WDR63) c.2532+180T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 85598527 rs5775826 TC T 219 rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=TC/0.01757,T/0.9824;DB;DBA=NA;PAF=TC/0.01757,T/0.9824;DB;DBA=NA;PAF=TC/0.01757,T/0.9824;NP=3304;Gene=WDR63/NM_001288563.1/0;CC=c.2416-3delC;VC=Intron;Gene=WDR63/NM_145172.4/1;CC=c.2533-3delC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:TC,T:66:53:0:62:4,62:102,1960:0.00,219.11:0.00,139.70:0.00,79.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,6.0:0,0:0,0:144,53:6,90:2,24:NM_145172.3(WDR63) c.2533-10delC,NM_145172.3(WDR63) c.2533-10delC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 85598682 . A . . NT END=85625506;NT GT ./. 1 85625551 . C . . NT END=85625557;NT GT ./. 1 85626836 . C . . NT END=85630208;NT GT ./. 1 85630441 . C . . NT END=85634726;NT GT ./. 1 85634909 . C . . NT END=85643828;NT GT ./. 1 85643956 . C . . NT END=85647780;NT GT ./. 1 85647713 rs817444 T C 148 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.02057,C/0.9794;Gene=SYDE2/NM_032184.1/1;CC=c.2544+68A>G;VC=Intron;DM=SYDE2/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A,C:42:39:0:0:1,41:27,1294:1.57,148.43:1.57,119.66:0.00,28.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.0,42.2:0,0:0,0:94,42:55,108:0,27:NM_032184.1(SYDE2) c.2544+68A>G,NM_032184.1(SYDE2) c.2544+68A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 85648620 rs817443 C T 287 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.02057,T/0.9794;PC=0.038;Gene=SYDE2/NM_032184.1/1;CC=c.1705G>A;ProtCh=p.V569I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:76:50:0:0:76:2512:287.44:157.83:129.61:1.00:1.00:1.00:60:36.3:0:0:66:81:29:NM_032184.1(SYDE2) c.1705G>A (p.Val569Ile),NM_032184.1(SYDE2) c.1705G>A (p.Val569Ile):0.98,0.98:0.984188,0.984188 1 85648884 . C . . NT END=85655739;NT GT ./. 1 85648905 rs11161539 T C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.4858,C/0.5142;PC=0.002;Gene=SYDE2/NM_032184.1/1;CC=c.1442-22A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:20:0:0:15,33:500,1032:44.21,0.00:15.99,0.00:28.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,14.3:0,0:0,0:107,103:29,47:21,22:NM_032184.1(SYDE2) c.1442-22A>G,-:0.52,-:0.55063,- 1 85655741 . T C 109 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=74;PC=1.000;Gene=SYDE2/NM_032184.1/1;CC=c.1440A>G;ProtCh=p.A480=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:68:0:0:39,35:1133,1207:109.48,0.00:92.54,0.00:16.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,4.9:0,0:0,0:56,33:88,108:27,17:NM_032184.1(SYDE2) c.1440A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 85656436 . C . . NT END=85660469;NT GT ./. 1 85660561 . C . . NT END=85665833;NT GT ./. 1 85660752 rs150378245 A C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8978,C/0.1022;PC=0.092;Gene=SYDE2/NM_032184.1/1;CC=c.746-4317T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,C:8:0:0:0:4,4:94,113:0.00,10.81:0.00,0.00:0.00,10.81:0.00,0.87:0.00,0.00:0.00,0.87:60,60:30.0,32.2:0,0:0,0:117,66:33,85:25,26:-,NM_032184.1(SYDE2) c.746-4317T>G:-,0.12:-,NOT_FOUND 1 85665911 . C . . NT END=85665934;NT GT ./. 1 85666156 rs12121540 T G 350 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=186;DB;DBA=NA;PAF=T/0.6955,C/.,G/0.3045;PC=0.001;Gene=SYDE2/NM_032184.1/1;CC=c.524A>C;ProtCh=p.Q175P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:186:117:0:0:114,72:3499,2365:350.24,0.00:189.68,0.00:160.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,8.8:0,0:0,0:64,76:84,59:30,37:NM_032184.1(SYDE2) c.524A>C (p.Gln175Pro),-:0.3,-:0.214168,- 1 85666912 rs817458 T C 768 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=207;DB;DBA=NA;PAF=T/0.02097,C/0.979;PC=0.855 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:207:144:0:0:207:6698:768.16:432.34:335.82:1.00:1.00:1.00:60:43.7:0:0:79:67:43:NM_032184.1(SYDE2) c.-49-u184A>G,NM_032184.1(SYDE2) c.-49-u184A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 85667271 . C . . NT END=85718311;NT GT ./. 1 85718386 . C . . NT END=85724206;NT GT ./. 1 85724328 rs4949926 C T 61 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.7752,T/0.2248;PC=0.007;Gene=C1orf52/NM_198077.3/1;CC=c.354G>A;ProtCh=p.P118=;VC=Silent;Gene=C1orf52/NR_024113.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:39:0:0:34,21:1111,668:0.00,60.94:0.00,25.75:0.00,35.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,48.1:0,0:0,0:86,67:62,79:26,35:-,NM_198077.3(C1orf52) c.354G>A (p.(=)):-,0.22:-,0.180301 1 85724406 . C . . NT END=85724617;NT GT ./. 1 85724745 . C . . NT END=85725040;NT GT ./. 1 85725317 . G . . NT END=85733309;NT GT ./. 1 85725523 rs386367543 C CGG 18 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9657,CG/0.02196,CGG/0.01238;DB;DBA=NA;PAF=C/0.9657,CGG/0.01238;DB;DBA=NA;PAF=C/0.9657,CG/0.02196;DB;DBA=NA;PAF=C/0.9657,CGG/0.01238;NP=12;NP=32;PC=0.011;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,CGG:12:1:6:0:6,6:185,184:0.00,17.65:0.00,1.79:0.00,15.86:0.00,0.98:0.00,0.67:0.00,0.98:60,60:5.3,2.0:0,0:0,0:136,86:15,64:4,36:-,NM_198077.3(C1orf52) c.-39-u169_-39-u168insCC:-,NOT_FOUND:-,NOT_FOUND 1 85733666 . C . . NT END=85736300;NT GT ./. 1 85733929 rs2252408 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2302,T/0.7698;Gene=BCL10/NM_003921.4/1;CC=c.347-264G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T:9:0:0:0:2,7:50,238:0.00,25.07:0.00,0.00:0.00,25.07:0.00,1.00:0.00,0.00:0.00,1.00:60,60:104.0,41.6:0,0:0,0:132,74:17,77:15,15:-,NM_003921.4(BCL10) c.347-264G>A:-,0.78:-,NOT_FOUND 1 85736590 . C . . NT END=85741978;NT GT ./. 1 85741921 rs2735594 G C 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.2294,C/0.7706;PC=0.006;Gene=BCL10/NM_003921.4/1;CC=c.57+58C>G;VC=Intron;DM=BCL10/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:36:0:0:16,21:484,636:45.03,0.00:41.50,0.00:3.54,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:64.4,3.6:0,0:0,0:50,34:101,117:22,23:NM_003921.4(BCL10) c.57+58C>G,-:0.78,-:0.800263,- 1 85741968 rs12562182 G C 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.9165,C/0.08347;Gene=BCL10/NM_003921.4/1;CC=c.57+11C>G;VC=Intron;DM=BCL10/CARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:50:42:0:0:21,29:622,959:57.40,0.00:37.90,0.00:19.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.1,3.7:0,0:0,0:56,59:93,92:35,25:NM_003921.4(BCL10) c.57+11C>G,-:0.08,-:0.061049,- 1 85742036 . G . . NT END=85787134;NT GT ./. 1 85742157 rs1060843 G C 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8746,C/0.1254;Gene=BCL10/NM_003921.4/1;CC=c.-122C>G;VC=5UTR;Gene=LOC646626/NR_045484.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:21:3:0:0:7,14:203,450:17.82,0.00:-0.35,0.00:18.18,0.00:0.97,0.00:0.73,0.00:1.00,0.00:60,60:46.4,13.7:0,0:0,0:120,85:31,65:15,35:NR_045484.1(LOC646626) n.117G>C,-:0.12,-:NOT_FOUND,- 1 85753812 rs12068389 G T 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8778,T/0.1222 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:G,T:5:2:0:0:1,4:9,128:0.00,13.70:0.00,3.68:0.00,10.02:0.00,0.96:0.00,0.97:0.00,0.96:60,60:118.0,32.0:0,0:0,0:58,59:92,58:0,10:-,chr1 g.85753811G>T (intergenic):-,0.12:-,NOT_FOUND 1 85786957 rs233114 T G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6593,G/0.3407;Gene=DDAH1/NM_012137.3/0;CC=c.*178A>C;VC=3UTR;Gene=DDAH1/NM_001134445.1/1;CC=c.*178A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:G,T:13:13:0:0:6,7:144,240:13.30,0.00:13.30,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:70.0,4.6:0,0:0,0:85,59:58,90:31,20:NM_012137.3(DDAH1) c.*178A>C,-:0.32,-:NOT_FOUND,- 1 85786977 rs233115 G A 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6647,A/0.3353;PC=0.025;Gene=DDAH1/NM_012137.3/0;CC=c.*158C>T;VC=3UTR;Gene=DDAH1/NM_001134445.1/1;CC=c.*158C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:15:15:0:0:6,9:192,292:17.68,0.00:17.68,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:74.3,7.4:0,0:0,0:74,71:76,79:34,28:NM_012137.3(DDAH1) c.*158C>T,-:0.32,-:NOT_FOUND,- 1 85787114 rs233116 A T 132 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.010;Gene=DDAH1/NM_012137.3/0;CC=c.*21T>A;VC=3UTR;Gene=DDAH1/NM_001134445.1/1;CC=c.*21T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:T:35:27:0:0:35:1153:131.98:86.03:45.96:1.00:1.00:1.00:60:50.6:0:0:34:116:22:NM_012137.3(DDAH1) c.=,NM_012137.3(DDAH1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 85787118 rs3087894 G C 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.7194,A/.,C/0.2806;PC=0.003;Gene=DDAH1/NM_012137.3/0;CC=c.*17C>G;VC=3UTR;Gene=DDAH1/NM_001134445.1/1;CC=c.*17C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:37:29:0:0:1,16,20:11,488,605:0.04,45.65,0.00:0.13,32.05,0.00:-0.08,13.60,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:75.0,67.5,29.2:0,0,0:0,0,0:33,47,22:118,98,124:0,14,16:NM_012137.3(DDAH1) c.*17C>G,-:0.28,-:0.266339,- 1 85787252 . C . . NT END=85790422;NT GT ./. 1 85787323 rs1498375 T A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.7208,A/0.2792;PC=0.001;Gene=DDAH1/NM_012137.3/0;CC=c.742-72A>T;VC=Intron;Gene=DDAH1/NM_001134445.1/1;CC=c.433-72A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,C,T:20:3:0:0:6,1,13:202,13,420:17.91,0.29,0.00:3.12,-0.03,0.00:14.79,0.32,0.00:0.94,0.00,0.00:0.69,0.00,0.00:0.99,0.00,0.00:60,60,60:48.8,51.0,4.8:0,0,0:0,0,0:109,66,117:40,85,34:25,0,8:NM_012137.3(DDAH1) c.742-72A>T,-:0.28,-:NOT_FOUND,- 1 85790567 . C . . NT END=85816097;NT GT ./. 1 85790633 rs1498373 G A 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.7204,A/0.2796;Gene=DDAH1/NM_012137.3/0;CC=c.598-67C>T;VC=Intron;Gene=DDAH1/NM_001134445.1/1;CC=c.289-67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:29:0:0:28,25:887,850:86.09,0.00:30.58,0.00:55.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,8.3:0,0:0,0:116,94:33,56:21,28:NM_012137.3(DDAH1) c.598-67C>T,-:0.28,-:NOT_FOUND,- 1 85790802 rs5775833 CTCTTT C 28 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CTCTTT/0.7204,C/0.2796;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CTCTTT/0.7204,C/0.2796;NP=82;PC=0.065;Gene=DDAH1/NM_012137.3/0;CC=c.598-241_598-237delAAAGA;VC=Intron;Gene=DDAH1/NM_001134445.1/1;CC=c.289-241_289-237delAAAGA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTCTTT,C:16:0:0:9:7,9:237,287:0.00,28.23:0.00,0.00:0.00,28.23:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.3,17.8:0,0:0,0:119,103:27,47:13,14:-,NM_012137.3(DDAH1) c.598-241_598-237delAAAGA:-,0.27:-,NOT_FOUND 1 85815855 rs397863230 CT C 16 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CT/0.6705,C/0.3295;DB;DBA=NA;PAF=CT/0.6705,C/0.3295;NP=437;PC=0.006;Gene=DDAH1/NM_012137.3/0;CC=c.597+242delA;VC=Intron;Gene=DDAH1/NM_001134445.1/1;CC=c.288+242delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:CT,T,C:12:12:0:5:6,1,5:192,8,165:0.00,0.12,15.58:0.00,0.12,15.58:0.00,0.00,0.00:0.00,0.00,0.92:0.00,0.00,0.92:0.00,0.00,0.00:60,47,60:0.0,178.0,0.0:0,0,0:0,0,0:30,70,45:121,47,106:20,0,11:-,NM_012137.3(DDAH1) c.597+242delA:-,NOT_FOUND:-,NOT_FOUND 1 85816218 . C . . NT END=85817188;NT GT ./. 1 85817263 . C . . NT END=85824430;NT GT ./. 1 85824531 . C . . NT END=85845263;NT GT ./. 1 85845367 rs997251 T C 136 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.6981,C/0.3019;PC=0.001;Gene=DDAH1/NM_012137.3/0;CC=c.304-20837A>G;VC=Intron;Gene=DDAH1/NM_001134445.1/1;CC=c.-6-20837A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:45:0:0:40,34:1388,1108:135.71,0.00:41.00,0.00:94.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,3.9:0,0:0,0:81,91:59,57:25,30:NM_012137.3(DDAH1) c.304-20837A>G,-:0.3,-:NOT_FOUND,- 1 85845406 . a . . NT END=85870063;NT GT ./. 1 85870207 . A . . NT END=85930178;NT GT ./. 1 85870340 rs7526667 A T 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.01478,T/0.9852;PC=1.000;Gene=DDAH1/NM_012137.3/0;CC=c.304-45810T>A;VC=Intron;Gene=DDAH1/NM_001134445.1/1;CC=c.-6-45810T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:3:0:0:23:685:79.42:6.95:72.46:1.00:1.00:1.00:60:44.3:0:0:109:42:34:NM_012137.3(DDAH1) c.304-45810T>A,NM_012137.3(DDAH1) c.304-45810T>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 85930272 rs5775842 GAC G 282 idl,rn VT=DEL;SST=Single;DP=110;DB;DBA=NA;PAF=GAC/0.2416,G/0.7584;DB;DBA=NA;PAF=GAC/0.2416,G/0.7584;DB;DBA=NA;PAF=GAC/0.2416,G/0.7584;NP=306;PC=0.001;Gene=DDAH1/NM_012137.3/0;CC=c.303+152_303+153delGT;VC=Intron;Gene=DDAH1/NM_001134445.1/1;CC=c.-7+31575_-7+31576delGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GAC,G:99:83:0:95:1,16,82:16,430,2929:0.25,0.00,281.68:0.27,0.00,165.38:-0.02,0.00,116.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:16.0,46.7,13.9:0,0,11:0,0,0:147,132,66:3,15,81:0,10,25:-,NM_012137.3(DDAH1) c.303+152_303+153delGT:-,NOT_FOUND:-,NOT_FOUND 1 85930276 . c . . NT END=85930425;NT GT ./. 1 85930890 . G . . NT END=85961848;NT GT ./. 1 85961965 . C . . NT END=85987301;NT GT ./. 1 85987081 rs2773121 C G 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=DDAH1/NM_001134445.1/1;CC=c.-122-25117G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:23:0:0:9,14:291,373:0.00,37.19:0.00,37.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.3,82.7:0,0:0,0:61,43:90,107:36,31:-,NM_001134445.1(DDAH1) c.-122-25117G>C:-,NOT_FOUND:-,NOT_FOUND 1 85987130 rs671020 T A 165 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.08626,A/0.9137;Gene=DDAH1/NM_001134445.1/1;CC=c.-122-25166A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:46:0:0:47:1429:165.17:161.79:3.38:1.00:1.00:1.00:60:62.3:0:0:41:110:28:NM_001134445.1(DDAH1) c.-122-25166A>T,NM_001134445.1(DDAH1) c.-122-25166A>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 85987191 rs2773120 G A 121 nt VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=DDAH1/NM_001134445.1/1;CC=c.-122-25227C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:76:0:0:39,41:1265,1277:121.01,0.00:111.97,0.00:9.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:86.7,18.2:0,0:0,0:53,54:98,94:34,26:NM_001134445.1(DDAH1) c.-122-25227C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 85987237 rs2773119 G C 138 nt VT=SNV;PN=A;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=NA;PC=0.038;Gene=DDAH1/NM_001134445.1/1;CC=c.-122-25273C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:112:96:0:0:2,46,64:22,1486,2134:-0.09,138.03,0.00:-0.21,104.20,0.00:0.13,33.84,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:95.0,69.9,10.9:0,0,0:0,0,0:34,63,62:110,87,87:30,31,37:NM_001134445.1(DDAH1) c.-122-25273C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 85987372 rs940332 A C 219 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=169;DB;DBA=NA;PAF=A/0.4998,C/0.5002;Gene=DDAH1/NM_001134445.1/1;CC=c.-122-25408T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:169:90:0:0:91,78:2971,2323:0.00,218.69:0.00,72.75:0.00,145.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,59.7:0,0:0,0:85,102:59,45:25,26:-,NM_001134445.1(DDAH1) c.-122-25408T>G:-,NOT_FOUND:-,NOT_FOUND 1 85987415 rs940333 G T 148 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=DDAH1/NM_001134445.1/1;CC=c.-122-25451C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:115:55:0:0:1,64,50:10,2061,1577:-0.16,0.00,147.61:-0.08,0.00,42.38:-0.08,0.00,105.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:216.0,10.5,69.0:0,0,0:0,0,0:138,102,119:5,46,28:0,22,15:-,NM_001134445.1(DDAH1) c.-122-25451C>A:-,NOT_FOUND:-,NOT_FOUND 1 85987420 . g . . NT END=86043666;NT GT ./. 1 86036047 rs71582959 T TCACACA 6 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=6;NP=70;NP=8;PC=0.029;Gene=DDAH1/NM_001134445.1/1;CC=c.-123+7619_-123+7620insTGTGTG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TCACACA:3:5:4:0:1,2:32,130:0.00,6.34:0.00,6.55:0.00,-0.21:0.00,0.46:0.00,0.46:0.00,0.80:60,60:0.0,13.0:0,2:0,0:131,29:20,120:0,10:-,NM_001134445.1(DDAH1) c.-123+7619_-123+7620insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 86043685 . T . . NT END=86046667;NT GT ./. 1 86046145 . G GAC 23 rn VT=INS;SST=Single;DP=25;PC=0.405;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GAC:24:25:9:0:16,8:460,297:0.00,23.49:0.00,23.82:0.00,-0.34:0.00,0.99:0.00,0.99:0.00,0.79:60,60:51.2,112.1:0,1:0,0:24,47:119,103:19,32:-,NM_001554.4(CYR61) c.-224-u299_-224-u298insAC:-,NOT_FOUND:-,NOT_FOUND 1 86046178 . ACC A 7 idl,nt VT=DEL;SST=Single;DP=25;NP=2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:ACC,A:23:21:0:7:20,3:690,159:0.00,7.36:0.00,7.69:0.00,-0.33:0.00,0.46:0.00,0.86:0.00,0.66:60,60:94.7,42.7:0,2:0,0:56,35:86,115:18,17:-,NM_001554.4(CYR61) c.-224-u265_-224-u264delCC:-,NOT_FOUND:-,NOT_FOUND 1 86046180 rs67157553 C A 69 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=201 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:A,C:20:16:0:9:19,1:612,22:68.52,0.00:49.18,0.00:19.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.5,71.0:0,0:0,0:52,105:86,1:14,0:NM_001554.4(CYR61) c.-224-u264C>A,NM_001554.4(CYR61) c.-224-u264C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 86046182 rs78200185 C A 40 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1909,A/0.8091;NP=98 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:18:0:6:13,9:405,268:40.24,0.00:32.79,0.00:7.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:106.2,39.2:2,1:0,0:60,39:81,109:14,15:NM_001554.4(CYR61) c.-224-u262C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 86046215 . GACACACACACAGACACAC G 9 idl,nt VT=DEL;SST=Single;DP=27;PC=0.051;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,GACACACACACAGACACAC,G:23:22:0:8:1,18,4:12,561,248:0.12,0.00,8.85:0.22,0.00,4.96:-0.10,0.00,3.88:0.00,0.00,0.66:0.00,0.00,0.93:0.00,0.00,0.81:60,60,60:113.0,78.8,91.0:0,1,4:0,0,0:143,84,73:7,50,74:0,16,17:-,NM_001554.4(CYR61) c.-224-u228_-224-u211delACACACACACAGACACAC:-,NOT_FOUND:-,NOT_FOUND 1 86046219 rs112008072 C G 15 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=12;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,G:15:12:0:12:9,6:310,163:0.00,14.77:0.00,11.85:0.00,2.91:0.00,0.96:0.00,0.99:0.00,0.46:60,60:55.8,123.2:0,0:0,0:86,111:54,38:10,19:-,NM_001554.4(CYR61) c.-224-u225C>G:-,NOT_FOUND:-,NOT_FOUND 1 86046227 . GACACACACAC C,G 19 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:16:C,GACACACACAC,G:10:9:0:16:6,2,2:182,46,125:18.65,0.00,5.45:14.98,0.00,4.00:3.68,0.00,1.45:0.98,0.00,0.00:1.00,0.00,0.00:0.94,0.00,0.00:60,60,60:136.2,42.0,74.0:0,0,2:0,0,0:106,109,65:34,38,85:14,10,13:NM_001554.4(CYR61) c.-224-u217_-224-u208delGACACACACA,NM_001554.4(CYR61) c.-224-u216_-224-u207delACACACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 86046237 rs368665633 C G 12 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,G:17:12:0:6:12,5:408,142:0.00,12.11:0.00,1.71:0.00,10.40:0.00,0.88:0.00,0.97:0.00,0.91:60,60:74.6,61.2:4,5:0,0:106,80:32,64:20,11:-,NM_001554.4(CYR61) c.-224-u207C>G:-,NOT_FOUND:-,NOT_FOUND 1 86046561 rs2297140 C A 73 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.4143,A/0.5857;PC=0.004;Gene=CYR61/NM_001554.4/1;CC=c.-107C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:45:41:0:0:23,22:756,707:73.03,0.00:55.24,0.00:17.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,5.0:0,0:0,0:50,31:95,119:36,25:NM_001554.4(CYR61) c.-107C>A,-:0.56,-:NOT_FOUND,- 1 86046731 . G . . NT END=86047047;NT GT ./. 1 86046924 rs2297141 G A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.5325,A/0.4675;Gene=CYR61/NM_001554.4/1;CC=c.64-124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:39:34:0:0:14,1,24:450,12,730:40.82,0.05,0.00:34.63,0.09,0.00:6.19,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.88,0.00,0.00:60,60,60:53.4,98.0,18.5:0,0,0:0,0,0:40,91,44:110,60,102:21,0,37:NM_001554.4(CYR61) c.64-124G>A,-:0.45,-:NOT_FOUND,- 1 86047262 . G . . NT END=86047610;NT GT ./. 1 86047909 rs9658586 G A 197 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.9862,A/0.01378;PC=0.430;Gene=CYR61/NM_001554.4/1;CC=c.576G>A;ProtCh=p.L192=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:134:76:0:0:67,1,66:2051,12,2157:196.97,-0.09,0.00:87.01,-0.07,0.00:109.97,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.4,90.0,8.3:0,0,0:0,0,0:90,20,84:58,131,56:32,0,30:NM_001554.4(CYR61) c.576G>A (p.(=)),-:0.01,-:0.017146,- 1 86047968 . G . . NT END=86048098;NT GT ./. 1 86048308 . G . . NT END=86048422;NT GT ./. 1 86048726 . A . . NT END=86119740;NT GT ./. 1 86072317 rs58692771 T TCACACACACA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=168;NP=20;NP=3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TCACACACACA:3:3:3:0:1,2:33,100:0.00,6.55:0.00,-0.20:0.00,6.75:0.00,0.94:0.00,0.89:0.00,0.94:60,60:77.0,35.5:0,1:0,0:128,81:23,68:0,2:-,chr1 g.86072317_86072318insCACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 86086399 rs61093150 G GACAC 10 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=31;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GACAC:3:3:5:0:3:165:10.46:5.48:4.98:0.78:0.94:0.94:60:3.0:2:0:68:81:3:chr1 g.86086399_86086400insACAC (intergenic),chr1 g.86086399_86086400insACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 86119782 . C . . NT END=86123529;NT GT ./. 1 86119898 rs2274738 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8067,G/0.1933;PC=0.738;Gene=ZNHIT6/NM_001170670.1/1;CC=c.1256-117T>C;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.1373-117T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:1:0:0:10,7:301,248:0.00,23.15:0.00,-0.12:0.00,23.27:0.00,0.98:0.00,0.61:0.00,0.98:60,60:17.6,42.7:0,0:0,0:102,108:48,43:29,35:-,NM_017953.3(ZNHIT6) c.1373-117T>C:-,0.25:-,NOT_FOUND 1 86120024 rs821400 A G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1152,G/0.8848;PC=0.014;Gene=ZNHIT6/NM_001170670.1/1;CC=c.1256-243T>C;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.1373-243T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:175:20.33:2.04:18.29:1.00:1.00:1.00:60:59.3:0:0:92:54:21:NM_017953.3(ZNHIT6) c.1373-243T>C,NM_017953.3(ZNHIT6) c.1373-243T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 86123655 . C . . NT END=86142918;NT GT ./. 1 86142997 . C . . NT END=86144383;NT GT ./. 1 86144465 . C . . NT END=86146518;NT GT ./. 1 86146588 . C . . NT END=86167839;NT GT ./. 1 86146672 rs3767162 G A 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6164,A/0.3836;Gene=ZNHIT6/NM_001170670.1/1;CC=c.903-85C>T;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.1020-85C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:8:0:0:17,17:525,529:50.37,0.00:10.92,0.00:39.45,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:34.1,16.4:0,0:0,0:98,114:53,37:32,13:NM_017953.3(ZNHIT6) c.1020-85C>T,-:0.39,-:NOT_FOUND,- 1 86167624 rs67897121 GACAC G 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GACAC/0.1352,G/0.8648;DB;DBA=NA;PAF=GACAC/0.1352,G/0.8648;DB;DBA=NA;PAF=GACAC/0.1352,G/0.8648;DB;DBA=NA;PAF=GACAC/0.1352,G/0.8648;DB;DBA=NA;PAF=GACAC/0.1352,G/0.8648;NP=390;Gene=ZNHIT6/NM_001170670.1/1;CC=c.902+212_902+215delGTGT;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.1019+212_1019+215delGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:4:0:4:3:121:11.16:9.28:1.88:0.85:0.85:0.83:60:56.0:1:0:57:82:15:NM_017953.3(ZNHIT6) c.1019+212_1019+215delGTGT,NM_017953.3(ZNHIT6) c.1019+212_1019+215delGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 86167944 . C . . NT END=86171760;NT GT ./. 1 86167957 rs1764298 C T 93 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.2933,T/0.7067;PC=0.044;Gene=ZNHIT6/NM_001170670.1/1;CC=c.799-14G>A;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.916-14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C,T:28:18:0:0:1,27:12,823:0.00,93.41:0.00,46.16:0.00,47.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.0,36.5:0,0:0,0:9,120:142,27:0,23:NM_017953.3(ZNHIT6) c.916-14G>A,NM_017953.3(ZNHIT6) c.916-14G>A:0.76,0.76:0.700908,0.700908 1 86168123 rs1764299 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6154,C/0.3846;PC=0.002;Gene=ZNHIT6/NM_001170670.1/1;CC=c.799-180A>G;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.916-180A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:7:0:0:0:4,3:138,97:13.63,0.00:0.00,0.00:13.63,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:34.5,26.7:0,0:0,0:127,126:23,25:8,12:NM_017953.3(ZNHIT6) c.916-180A>G,-:0.39,-:NOT_FOUND,- 1 86171692 rs370671489 TA T 22 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=235;PC=0.006;Gene=ZNHIT6/NM_001170670.1/1;CC=c.798+68delT;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.915+68delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:TA,I,T:42:39:4:9:29,4,9:867,129,267:0.00,9.47,21.96:0.00,9.62,19.81:0.00,-0.15,2.15:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.74:60,60,60:9.3,10.8,18.0:0,0,0:0,0,0:79,45,27:71,105,105:47,18,23:-,NM_017953.3(ZNHIT6) c.915+68delT:-,NOT_FOUND:-,NOT_FOUND 1 86171847 . C . . NT END=86171931;NT GT ./. 1 86172039 . C . . NT END=86172124;NT GT ./. 1 86172191 . C . . NT END=86173311;NT GT ./. 1 86173100 rs1775986 T C 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1154,C/0.8846;Gene=ZNHIT6/NM_001170670.1/1;CC=c.539+212A>G;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.656+212A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:357:41.39:41.39:0.00:1.00:1.00:0.00:60:57.8:0:0:24:127:16:NM_017953.3(ZNHIT6) c.656+212A>G,NM_017953.3(ZNHIT6) c.656+212A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 86173298 rs1539444 C T 105 nt VT=SNV;PN=T;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.5557,T/0.4443;PC=0.003;Gene=ZNHIT6/NM_001170670.1/1;CC=c.539+14G>A;VC=Intron;Gene=ZNHIT6/NM_017953.3/0;CC=c.656+14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:67:0:0:43,35:1432,1119:0.00,105.28:0.00,89.33:0.00,15.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,37.8:0,0:0,0:58,57:92,92:31,15:-,NM_017953.3(ZNHIT6) c.656+14G>A:-,0.48:-,0.457481 1 86173968 . C . . NT END=86196228;NT GT ./. 1 86174232 rs6689168 G T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6621,T/0.3379;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:G,T:5:0:0:0:2,3:51,81:0.00,8.07:0.00,0.00:0.00,8.07:0.00,0.78:0.00,0.00:0.00,0.78:60,60:35.5,55.0:0,0:0,0:46,140:104,11:44,2:-,NM_017953.3(ZNHIT6) c.-149-u116C>A:-,0.4:-,NOT_FOUND 1 86196376 . C . . NT END=86200431;NT GT ./. 1 86196586 rs12564080 A C 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6869,C/0.3131;PC=0.002;Gene=COL24A1/NM_152890.5/1;CC=c.4999-211T>G;VC=Intron;DM=COL24A1/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,C:8:0:0:0:3,5:99,171:0.00,17.19:0.00,0.00:0.00,17.19:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,34.2:0,1:0,0:47,120:103,30:25,18:-,NM_152890.5(COL24A1) c.4999-211T>G:-,0.36:-,NOT_FOUND 1 86200648 . C . . NT END=86203078;NT GT ./. 1 86203189 . C . . NT END=86210348;NT GT ./. 1 86203249 rs558382595 CT C 8 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=93;PC=0.005;Gene=COL24A1/NM_152890.5/1;CC=c.4673-62delA;VC=Intron;DM=COL24A1/COLFI;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:CT,I,C:23:8:1:4:19,1,3:614,29,124:0.00,1.65,7.52:0.00,-0.09,-0.29:0.00,1.74,7.81:0.00,0.00,0.47:0.00,0.00,0.61:0.00,0.00,0.86:60,60,70:7.2,70.0,6.7:0,0,1:0,0,0:125,123,103:25,28,46:15,0,20:-,NM_152890.5(COL24A1) c.4673-62delA:-,NOT_FOUND:-,NOT_FOUND 1 86210241 rs397755328 G GT 37 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.155,GT/0.845;DB;DBA=NA;PAF=G/0.155,GT/0.845;NP=3152;Gene=COL24A1/NM_152890.5/1;CC=c.4672+107dupA;VC=Intron;DM=COL24A1/COLFI;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:GT:11:10:11:0:11:319:37.13:33.85:3.28:1.00:1.00:1.00:70:5.0:0:0:47:103:38:NM_152890.5(COL24A1) c.4672+107_4672+108insA,NM_152890.5(COL24A1) c.4672+107_4672+108insA:0.88,0.88:NOT_FOUND,NOT_FOUND 1 86210518 . C . . NT END=86211123;NT GT ./. 1 86210546 rs7547023 G A 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.1532,A/0.8468;PC=0.965;Gene=COL24A1/NM_152890.5/1;CC=c.4504-29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:6:0:0:19:501:58.97:17.35:41.63:1.00:1.00:1.00:60:45.2:0:0:88:62:21:NM_152890.5(COL24A1) c.4504-29C>T,NM_152890.5(COL24A1) c.4504-29C>T:0.88,0.88:0.897375,0.897375 1 86211190 . C . . NT END=86227078;NT GT ./. 1 86211325 rs10747324 G A 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1528,A/0.8472;PC=0.021;Gene=COL24A1/NM_152890.5/1;CC=c.4438-136C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:306:34.89:0.00:34.89:1.00:0.00:1.00:60:35.6:0:0:126:25:24:NM_152890.5(COL24A1) c.4438-136C>T,NM_152890.5(COL24A1) c.4438-136C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 86226926 rs417887 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9095,A/0.09046;Gene=COL24A1/NM_152890.5/1;CC=c.4437+153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:7:7:0:0:5,2:162,68:16.77,0.00:16.77,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:62.2,5.5:0,0:0,0:89,98:61,51:20,34:NM_152890.5(COL24A1) c.4437+153C>T,-:0.11,-:NOT_FOUND,- 1 86227106 . C . . NT END=86227213;NT GT ./. 1 86227250 . C . . NT END=86241356;NT GT ./. 1 86241393 . C . . NT END=86246902;NT GT ./. 1 86241399 rs550729519 GA G 10 rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=90;PC=0.415;Gene=COL24A1/NM_152890.5/1;CC=c.4339-8delT;VC=Intron;DM=COL24A1/Collagen;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:GA,I,G:38:24:2:4:32,2,4:1062,66,134:0.00,4.25,9.85:0.00,0.91,6.45:0.00,3.34,3.41:0.00,0.00,0.60:0.00,0.00,0.85:0.00,0.00,0.88:60,60,60:2.0,0.0,10.8:0,0,0:0,0,0:77,66,76:69,57,62:40,0,20:-,NM_152890.5(COL24A1) c.4339-8delT:-,NOT_FOUND:-,0.022297 1 86246849 rs313722 A C 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.277,C/0.723;PC=1.000;Gene=COL24A1/NM_152890.5/1;CC=c.4338+54T>G;VC=Intron;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:11:0:0:15:490:56.15:35.19:20.96:1.00:1.00:1.00:60:36.9:0:0:34:117:21:NM_152890.5(COL24A1) c.4338+54T>G,NM_152890.5(COL24A1) c.4338+54T>G:0.76,0.76:0.763919,0.763919 1 86246957 . C . . NT END=86249178;NT GT ./. 1 86248972 rs10706942 AG A 28 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AG/0.3111,A/0.6889;NP=618;Gene=COL24A1/NM_152890.5/1;CC=c.4284+206delC;VC=Intron;DM=COL24A1/Collagen;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:9:9:239:28.17:28.17:0.00:1.00:1.00:0.00:70:73.7:0:0:36:114:13:NM_152890.5(COL24A1) c.4284+206delC,NM_152890.5(COL24A1) c.4284+206delC:0.72,0.72:NOT_FOUND,NOT_FOUND 1 86249063 rs313724 C T 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1026,T/0.8974;Gene=COL24A1/NM_152890.5/1;CC=c.4284+116G>A;VC=Intron;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:498:57.79:57.79:0.00:1.00:1.00:0.00:70:50.6:0:0:75:75:44:NM_152890.5(COL24A1) c.4284+116G>A,NM_152890.5(COL24A1) c.4284+116G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 86249242 . C . . NT END=86249795;NT GT ./. 1 86249850 . C . . NT END=86249941;NT GT ./. 1 86249911 rs313725 A G 251 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.1436,G/0.8564;Gene=COL24A1/NM_152890.5/1;CC=c.4167+31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:G:64:51:0:0:64:2203:250.82:166.63:84.19:1.00:1.00:1.00:60:39.1:0:0:71:80:40:NM_152890.5(COL24A1) c.4167+31T>C,NM_152890.5(COL24A1) c.4167+31T>C:0.89,0.89:0.879715,0.879715 1 86250050 . C . . NT END=86252036;NT GT ./. 1 86251836 rs313710 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6254,C/0.3746;PC=0.001;Gene=COL24A1/NM_152890.5/1;CC=c.4059+201A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:6:6:0:0:4,2:129,64:13.15,0.00:13.15,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:42.8,0.0:0,0:0,0:51,23:99,128:7,3:NM_152890.5(COL24A1) c.4059+201A>G,-:0.39,-:NOT_FOUND,- 1 86252145 . C . . NT END=86282470;NT GT ./. 1 86282579 . C . . NT END=86283716;NT GT ./. 1 86283771 . C . . NT END=86289218;NT GT ./. 1 86289273 . C . . NT END=86289367;NT GT ./. 1 86289422 . C . . NT END=86304267;NT GT ./. 1 86304322 . C . . NT END=86306904;NT GT ./. 1 86306962 . C . . NT END=86307750;NT GT ./. 1 86307805 . C . . NT END=86308022;NT GT ./. 1 86308077 . C . . NT END=86313347;NT GT ./. 1 86313456 . C . . NT END=86315035;NT GT ./. 1 86315090 . C . . NT END=86334201;NT GT ./. 1 86334070 rs313775 T A 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5323,A/0.4677;PC=0.002;Gene=COL24A1/NM_152890.5/1;CC=c.3300+132A>T;VC=Intron;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:A,T:11:11:0:0:6,5:207,172:20.27,0.00:20.27,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:45.0,0.0:0,0:0,0:85,9:65,142:35,8:NM_152890.5(COL24A1) c.3300+132A>T,-:0.45,-:NOT_FOUND,- 1 86334310 . C . . NT END=86334464;NT GT ./. 1 86334316 rs17411495 T C 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.5341,C/0.4659;Gene=COL24A1/NM_152890.5/1;CC=c.3193-7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:29:0:0:30,26:930,846:90.51,0.00:34.25,0.00:56.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,9.3:0,0:0,0:112,106:33,36:25,28:NM_152890.5(COL24A1) c.3193-7A>G,-:0.45,-:0.396932,- 1 86334519 . C . . NT END=86340331;NT GT ./. 1 86334675 rs11161693 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5893,C/0.4107;PC=0.016;Gene=COL24A1/NM_152890.5/1;CC=c.3139-157A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:9:0:0:0:5,4:123,124:11.89,0.00:0.00,0.00:11.89,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:35.4,12.0:0,0:0,0:110,112:41,37:11,12:NM_152890.5(COL24A1) c.3139-157A>G,-:0.41,-:NOT_FOUND,- 1 86340193 rs11161696 G T 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.2496,T/0.7504;Gene=COL24A1/NM_152890.5/1;CC=c.3138+139C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:21:0:0:9,12:301,373:0.00,36.75:0.00,36.75:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.1,58.4:0,0:0,0:46,21:105,129:16,18:-,NM_152890.5(COL24A1) c.3138+139C>A:-,0.74:-,NOT_FOUND 1 86340386 . C . . NT END=86340959;NT GT ./. 1 86340523 rs1564518 T C 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3059,C/0.6941;Gene=COL24A1/NM_152890.5/1;CC=c.3085-138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:20:0:0:0:1,11,8:12,329,271:0.32,32.51,0.00:0.00,0.00,0.00:0.32,32.51,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:35.0,64.1,0.0:0,0,0:0,0,0:38,93,98:113,57,52:0,28,37:NM_152890.5(COL24A1) c.3085-138A>G,-:0.7,-:NOT_FOUND,- 1 86340693 rs7524286 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5827,T/0.4173;PC=0.001;Gene=COL24A1/NM_152890.5/1;CC=c.3084+267G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T:7:5:0:0:1,6:32,201:0.00,21.72:0.00,14.40:0.00,7.32:0.00,1.00:0.00,1.00:0.00,0.98:60,60:0.0,47.7:0,0:0,0:24,66:127,84:0,45:-,NM_152890.5(COL24A1) c.3084+267G>A:-,0.42:-,NOT_FOUND 1 86340794 rs1564516 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.281,C/0.719;PC=0.018;Gene=COL24A1/NM_152890.5/1;CC=c.3084+166A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:11:11:0:0:6,5:196,164:19.17,0.00:19.17,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:67.7,0.0:0,0:0,0:28,52:122,98:24,24:NM_152890.5(COL24A1) c.3084+166A>G,-:0.73,-:NOT_FOUND,- 1 86340892 rs7536101 A G 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5647,G/0.4353;Gene=COL24A1/NM_152890.5/1;CC=c.3084+68T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:25:0:0:18,10:591,321:0.00,28.93:0.00,16.18:0.00,12.75:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.0,62.7:0,0:0,0:28,46:119,104:12,31:-,NM_152890.5(COL24A1) c.3084+68T>C:-,0.43:-,0.37823 1 86341014 . C . . NT END=86342804;NT GT ./. 1 86342859 . C . . NT END=86355242;NT GT ./. 1 86355212 rs76666601 C A 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9026,A/0.09744;Gene=COL24A1/NM_152890.5/1;CC=c.2976+31G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:31:27:0:0:12,19:401,615:36.85,0.00:26.25,0.00:10.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,12.3:0,0:0,0:50,36:100,110:28,24:NM_152890.5(COL24A1) c.2976+31G>T,-:0.1,-:0.033491,- 1 86355297 . C . . NT END=86361540;NT GT ./. 1 86355414 . CT C 8 rn VT=DEL;SST=Single;DP=14;NP=16;Gene=COL24A1/NM_152890.5/1;CC=c.2923-119delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:CT,C:14:1:0:3:11,3:350,98:0.00,8.08:0.00,-0.05:0.00,8.13:0.00,0.56:0.00,0.48:0.00,0.56:60,60:2.1,0.0:0,0:0,0:115,78:36,73:30,25:-,NM_152890.5(COL24A1) c.2923-119delA:-,NOT_FOUND:-,NOT_FOUND 1 86361384 rs4912449 C T 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1262,T/0.8738;PC=0.003;Gene=COL24A1/NM_152890.5/1;CC=c.2922+157G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:39.0:0:0:84:67:36:NM_152890.5(COL24A1) c.2922+157G>A,NM_152890.5(COL24A1) c.2922+157G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 86361586 . C . . NT END=86361703;NT GT ./. 1 86361749 . C . . NT END=86362038;NT GT ./. 1 86361802 rs7541806 C G 133 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3047,G/0.6953;PC=0.002;Gene=COL24A1/NM_152890.5/1;CC=c.2833-54G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:20:0:0:36:1158:132.89:47.77:85.12:1.00:1.00:1.00:60:41.9:0:0:98:39:29:NM_152890.5(COL24A1) c.2833-54G>C,NM_152890.5(COL24A1) c.2833-54G>C:0.72,0.72:0.666813,0.666813 1 86362093 . C . . NT END=86372876;NT GT ./. 1 86362184 . AT A 7 rn VT=DEL;SST=Single;DP=27;NP=11;Gene=COL24A1/NM_152890.5/1;CC=c.2779-93delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:AT,I,A:27:8:2:3:22,2,3:649,62,100:0.00,4.16,7.45:0.00,-0.15,2.60:0.00,4.31,4.85:0.00,0.00,0.44:0.00,0.00,0.56:0.00,0.00,0.87:60,60,60:13.0,76.5,0.0:0,0,0:0,0,0:131,77,97:19,73,52:15,32,20:-,NM_152890.5(COL24A1) c.2779-93delA:-,NOT_FOUND:-,NOT_FOUND 1 86372839 rs5775877 T TG 24 sb,rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6186,TG/.,TGG/.,TGGGGGC/0.001597,TGGGGGG/0.3702,TGGGGGGG/0.009585;DB;DBA=NA;PAF=NA;NP=1594;NP=16;Gene=COL24A1/NM_152890.5/1;CC=c.2778+37dupC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:18:17:8:0:10,8:325,254:0.00,23.85:0.00,23.40:0.00,0.45:0.00,0.99:0.00,1.00:0.00,0.96:60,60:3.0,12.2:0,0:0,0:64,55:82,88:31,19:-,NM_152890.5(COL24A1) c.2778+37_2778+38insC:-,NOT_FOUND:-,NOT_FOUND 1 86372931 . C . . NT END=86374280;NT GT ./. 1 86374335 . C . . NT END=86375632;NT GT ./. 1 86375654 rs1502657 C G 148 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.3081,G/0.6919;PC=1.000;Gene=COL24A1/NM_152890.5/1;CC=c.2649G>C;ProtCh=p.P883=;VC=Silent;DM=COL24A1/Collagen;DM=COL24A1/GVQW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G,T:43:34:0:0:42,1:1282,27:147.73,1.55:75.84,1.55:71.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,27.0:0,0:0,0:67,13:80,138:32,0:NM_152890.5(COL24A1) c.2649G>C (p.(=)),NM_152890.5(COL24A1) c.2649G>C (p.(=)):0.72,0.72:0.674423,0.674423 1 86375687 . C . . NT END=86377062;NT GT ./. 1 86375840 rs41306625 G A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8345,A/0.1655;Gene=COL24A1/NM_152890.5/1;CC=c.2617-154C>T;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/GVQW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:8:0:0:0:5,3:143,107:14.36,0.00:0.00,0.00:14.36,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:40.2,0.0:0,0:0,0:96,91:54,58:9,24:NM_152890.5(COL24A1) c.2617-154C>T,-:0.14,-:NOT_FOUND,- 1 86377028 rs10493777 C T 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6565,T/0.3435;Gene=COL24A1/NM_152890.5/1;CC=c.2616+35G>A;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/GVQW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:19:0:0:9,14:287,456:0.00,45.60:0.00,32.68:0.00,12.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,37.4:0,0:0,0:34,39:99,112:5,37:-,NM_152890.5(COL24A1) c.2616+35G>A:-,0.38:-,0.280356 1 86377117 . C . . NT END=86426931;NT GT ./. 1 86379987 . A ATGTG 9 rn VT=INS;SST=Single;DP=7;NP=1;NP=9;PC=0.015;Gene=COL24A1/NM_152890.5/1;CC=c.2563-2872_2563-2871insCACA;VC=Intron;DM=COL24A1/Collagen;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,ATGTG:7:5:3:0:4,3:105,99:0.00,9.28:0.00,6.45:0.00,2.82:0.00,0.69:0.00,0.93:0.00,0.93:60,60:13.0,3.3:0,0:0,0:109,30:42,86:18,7:-,NM_152890.5(COL24A1) c.2563-2872_2563-2871insCACA:-,NOT_FOUND:-,NOT_FOUND 1 86426977 . C . . NT END=86430691;NT GT ./. 1 86430746 . C . . NT END=86435909;NT GT ./. 1 86435850 rs7538391 T C 111 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.6883,C/0.3117;Gene=COL24A1/NM_152890.5/1;CC=c.2463+60A>G;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:26:0:0:31:967:111.41:76.65:34.76:1.00:1.00:1.00:60:38.0:0:0:38:110:23:NM_152890.5(COL24A1) c.2463+60A>G,NM_152890.5(COL24A1) c.2463+60A>G:0.28,0.28:0.188708,0.188708 1 86435955 . C . . NT END=86437022;NT GT ./. 1 86435957 . TA T 33 idl,rn VT=DEL;SST=Single;DP=53;NP=95;PC=0.997;Gene=COL24A1/NM_152890.5/1;CC=c.2419-4delT;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:50:35:5:14:2,32,4,12:56,986,156,447:3.19,0.00,9.53,32.63:-0.26,0.00,6.11,16.92:3.46,0.00,3.42,15.71:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:212.0,23.5,15.5,12.8:2,0,1,2:0,0,0,0:110,99,43,78:40,43,98,60:8,23,10,21:-,NM_152890.5(COL24A1) c.2419-4delT:-,NOT_FOUND:-,0.093794 1 86436797 rs625872 C G,T 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2434,T/0.7566;PC=0.044;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:G,T:4:4:0:0:1,3:12,98:1.08,10.86:1.08,10.86:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:12.0,43.7:0,0:0,0:74,76:75,74:0,4:NM_152890.5(COL24A1) c.2418+226G>C,NM_152890.5(COL24A1) c.2418+226G>A:NOT_FOUND,0.73:NOT_FOUND,NOT_FOUND 1 86437077 . C . . NT END=86453283;NT GT ./. 1 86437282 rs491358 A G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2368,G/0.7632;PC=0.006;Gene=COL24A1/NM_152890.5/1;CC=c.2365-206T>C;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:171:19.48:3.98:15.51:1.00:1.00:1.00:60:55.2:0:0:98:53:32:NM_152890.5(COL24A1) c.2365-206T>C,NM_152890.5(COL24A1) c.2365-206T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 86453237 rs11799965 T G 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.7804,A/.,G/0.2196;PC=0.001;Gene=COL24A1/NM_152890.5/1;CC=c.2364+47A>C;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:25:0:0:16,15:513,472:49.63,0.00:31.80,0.00:17.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,10.5:0,0:0,0:26,40:123,108:15,29:NM_152890.5(COL24A1) c.2364+47A>C,-:0.27,-:0.262355,- 1 86453338 . C . . NT END=86482833;NT GT ./. 1 86482888 . C . . NT END=86487922;NT GT ./. 1 86482922 rs557928 A T 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.7017,T/0.2983;PC=0.025;Gene=COL24A1/NM_152890.5/1;CC=c.2257-35T>A;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:34:18:0:0:20,14:587,454:0.00,42.09:0.00,16.26:0.00,25.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,37.9:0,0:0,0:104,89:41,56:29,22:-,NM_152890.5(COL24A1) c.2257-35T>A:-,0.29:-,0.31886 1 86487914 rs11161721 C A 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7404,A/0.2596;PC=0.535;Gene=COL24A1/NM_152890.5/1;CC=c.2256+9G>T;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:28:24:0:0:11,16,1:337,532,9:31.02,0.00,-0.02:27.08,0.00,0.08:3.93,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.0,12.9,190.0:0,0,0:0,0,0:33,97,10:118,46,141:21,46,0:NM_152890.5(COL24A1) c.2256+9G>T,-:0.26,-:0.266429,- 1 86487977 . C . . NT END=86488220;NT GT ./. 1 86487981 rs516213 G A 95 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.2123,A/0.7877;PC=0.006;Gene=COL24A1/NM_152890.5/1;CC=c.2203-5C>T;VC=Intron;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:A,T:28:15:0:0:27,1:828,9:95.12,0.23:41.72,0.23:53.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,190.0:0,0:0,0:73,77:77,74:23,0:NM_152890.5(COL24A1) c.2203-5C>T,NM_152890.5(COL24A1) c.2203-5C>T:0.76,0.76:0.699729,0.699729 1 86487992 rs5775882 A AACAG 90 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2196,AACAG/0.7804,AACTG/.;NP=798;PC=0.006;Gene=COL24A1/NM_152890.5/1;CC=c.2203-20_2203-17dupCTGT;VC=Intron;DM=COL24A1/Collagen;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:A,AACAG:28:15:26:0:2,26:49,807:0.00,89.99:0.00,43.74:0.00,46.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:92.5,49.7:1,0:0,0:131,83:20,66:15,21:NM_152890.5(COL24A1) c.2203-17_2203-16insCTGT,NM_152890.5(COL24A1) c.2203-17_2203-16insCTGT:NOT_FOUND,NOT_FOUND:0.699593,0.699593 1 86488232 rs641712 G A 80 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7091,A/0.2909;PC=1.000;Gene=COL24A1/NM_152890.5/1;CC=c.2191C>T;ProtCh=p.P731S;VC=Missense;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:37:0:0:25,19:811,608:79.95,0.00:47.59,0.00:32.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,2.2:0,0:0,0:73,55:78,85:47,27:NM_152890.5(COL24A1) c.2191C>T (p.Pro731Ser),-:0.29,-:0.318243,- 1 86488275 . C . . NT END=86488515;NT GT ./. 1 86488561 . C . . NT END=86488636;NT GT ./. 1 86488691 . C . . NT END=86497560;NT GT ./. 1 86497417 rs145877277 TG T 22 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=336;PC=0.531;Gene=COL24A1/NM_152890.5/1;CC=c.2049+143delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:TG,T:10:10:0:7:3,7:83,213:0.00,21.98:0.00,21.98:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.0,11.1:0,0:0,0:9,31:142,119:8,11:-,NM_152890.5(COL24A1) c.2049+143delC:-,NOT_FOUND:-,NOT_FOUND 1 86497606 . C . . NT END=86499552;NT GT ./. 1 86497769 rs582141 C G 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=COL24A1/NM_152890.5/1;CC=c.2005-164G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:342:38.97:0.00:38.97:1.00:0.00:1.00:60:40.2:0:0:122:29:16:NM_152890.5(COL24A1) c.2005-164G>C,NM_152890.5(COL24A1) c.2005-164G>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 86499607 . C . . NT END=86512507;NT GT ./. 1 86512433 rs41309161 C T 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9563,T/0.04373;Gene=COL24A1/NM_152890.5/1;CC=c.1950+75G>A;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:34:0:0:21,16:705,508:0.00,47.44:0.00,36.02:0.00,11.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,33.4:0,0:0,0:42,57:100,81:27,36:-,NM_152890.5(COL24A1) c.1950+75G>A:-,0.04:-,0.051974 1 86512553 . c . . NT END=86515806;NT GT ./. 1 86512834 rs541395 G A 16 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.861,A/0.139;Gene=COL24A1/NM_152890.5/1;CC=c.1906-282C>T;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:141:16.01:1.99:14.02:1.00:1.00:1.00:60:35.2:0:0:122:28:5:NM_152890.5(COL24A1) c.1906-282C>T,NM_152890.5(COL24A1) c.1906-282C>T:0.15,0.15:NOT_FOUND,NOT_FOUND 1 86515861 . C . . NT END=86523613;NT GT ./. 1 86523659 . C . . NT END=86524803;NT GT ./. 1 86524858 . C . . NT END=86529397;NT GT ./. 1 86524903 rs41309191 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9758,T/0.02416;Gene=COL24A1/NM_152890.5/1;CC=c.1753-46G>A;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:10:0:0:14,9:452,277:0.00,25.31:0.00,7.71:0.00,17.59:0.00,1.00:0.00,0.98:0.00,1.00:60,60:10.7,42.6:0,0:0,0:78,101:72,50:27,20:-,NM_152890.5(COL24A1) c.1753-46G>A:-,0.03:-,0.033543 1 86529390 rs12742014 G A 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.9115,A/0.08846;PC=0.998;Gene=COL24A1/NM_152890.5/1;CC=c.1752+8C>T;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:22:0:0:12,15:397,530:37.37,0.00:23.18,0.00:14.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.8,4.5:0,0:0,0:45,48:104,103:25,23:NM_152890.5(COL24A1) c.1752+8C>T,-:0.1,-:0.142133,- 1 86529443 . C . . NT END=86554856;NT GT ./. 1 86529634 rs12354100 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7891,C/0.2109;PC=0.001;Gene=COL24A1/NM_152890.5/1;CC=c.1708-192T>G;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,C:5:0:0:0:3,2:72,71:0.00,6.61:0.00,0.00:0.00,6.61:0.00,0.46:0.00,0.00:0.00,0.46:60,60:25.0,35.5:0,0:0,0:128,89:23,61:8,7:-,NM_152890.5(COL24A1) c.1708-192T>G:-,0.21:-,NOT_FOUND 1 86554911 . C . . NT END=86557949;NT GT ./. 1 86557967 rs11161732 G A 78 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6298,A/0.3702,T/.;PC=1.000;Gene=COL24A1/NM_152890.5/1;CC=c.1636C>T;ProtCh=p.P546S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:17:0:0:22:678:78.25:42.77:35.48:1.00:1.00:1.00:60:40.0:0:0:70:72:18:NM_152890.5(COL24A1) c.1636C>T (p.Pro546Ser),NM_152890.5(COL24A1) c.1636C>T (p.Pro546Ser):0.38,0.38:0.37376,0.37376 1 86558004 . C . . NT END=86578249;NT GT ./. 1 86578304 . C . . NT END=86581007;NT GT ./. 1 86580800 rs6666638 C G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5641,G/0.4359;PC=0.244;Gene=COL24A1/NM_152890.5/1;CC=c.1545+208G>C;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:36.5:0:0:40:110:17:NM_152890.5(COL24A1) c.1545+208G>C,NM_152890.5(COL24A1) c.1545+208G>C:0.47,0.47:NOT_FOUND,NOT_FOUND 1 86581062 . C . . NT END=86590527;NT GT ./. 1 86590509 . T TA 13 rn VT=INS;SST=Single;DP=30;NP=15;Gene=COL24A1/NM_152890.5/1;CC=c.1491+18dupT;VC=Intron;DM=COL24A1/Collagen;DM=COL24A1/Collagen;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:T,TA:29:27:6:0:24,5:759,197:0.00,13.00:0.00,12.02:0.00,0.97:0.00,0.80:0.00,0.97:0.00,0.78:60,60:12.6,24.4:0,1:0,0:60,56:86,94:23,22:-,NM_152890.5(COL24A1) c.1491+18_1491+19insT:-,NOT_FOUND:-,NOT_FOUND 1 86590915 rs2174767 G A 261 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.03554,A/0.9645;PC=0.003;Gene=COL24A1/NM_152890.5/1;CC=c.1104C>T;ProtCh=p.S368=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:49:0:0:76:2253:261.21:152.42:108.79:1.00:1.00:1.00:60:42.1:0:0:68:74:33:NM_152890.5(COL24A1) c.1104C>T (p.(=)),NM_152890.5(COL24A1) c.1104C>T (p.(=)):0.96,0.96:0.974085,0.974085 1 86591837 rs11161747 G A 260 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=0.989;Gene=COL24A1/NM_152890.5/1;CC=c.182C>T;ProtCh=p.A61V;VC=Missense;DM=COL24A1/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:71:32:0:0:70,1:2271,9:259.97,0.11:88.24,0.00:171.73,0.11:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,160.0:0,0:0,0:91,58:56,89:35,0:NM_152890.5(COL24A1) c.182C>T (p.Ala61Val),NM_152890.5(COL24A1) c.182C>T (p.Ala61Val):0.66,0.66:0.699701,0.699701 1 86591898 . C . . NT END=86611801;NT GT ./. 1 86611867 . C . . NT END=86622023;NT GT ./. 1 86621992 rs1999747 C A 189 nt VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.4497,A/0.5503,T/.;PC=0.815;Gene=COL24A1/NM_152890.5/1;CC=c.56+32G>T;VC=Intron;DM=COL24A1/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:47:0:0:52:1642:188.94:141.45:47.50:1.00:1.00:1.00:60:39.2:0:0:52:93:30:NM_152890.5(COL24A1) c.56+32G>T,NM_152890.5(COL24A1) c.56+32G>T:0.61,0.61:0.642451,0.642451 1 86622080 . T . . NT END=86814431;NT GT ./. 1 86814562 . C . . NT END=86815776;NT GT ./. 1 86815809 . c . . NT END=86817528;NT GT ./. 1 86817397 rs7515651 C G,T 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6863,T/0.3137;PC=0.046 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:12:G,T:10:10:0:0:2,8:25,210:2.07,23.96:2.07,23.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:57,60:137.5,49.8:0,0:0,0:130,31:7,119:15,22:NM_001007022.2(ODF2L) c.*477G>C,NM_001007022.2(ODF2L) c.*477G>A:NOT_FOUND,0.32:NOT_FOUND,NOT_FOUND 1 86817892 . C . . NT END=86818540;NT GT ./. 1 86818572 rs272496 T C 166 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.2588,C/0.7412;PC=1.000;Gene=ODF2L/NM_001184765.1/0;CC=c.1704A>G;ProtCh=p.E568=;VC=Silent;Gene=ODF2L/NM_001184766.1/0;CC=c.1617A>G;ProtCh=p.E539=;VC=Silent;Gene=ODF2L/NM_001007022.2/0;CC=c.1863A>G;ProtCh=p.E621=;VC=Silent;Gene=ODF2L/NM_020729.2/1;CC=c.1815A>G;ProtCh=p.E605=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:33:0:0:43:1460:166.48:94.60:71.88:1.00:1.00:1.00:60:36.9:0:0:55:92:27:NM_001007022.2(ODF2L) c.1863A>G (p.(=)),NM_001007022.2(ODF2L) c.1863A>G (p.(=)):0.73,0.73:0.686528,0.686528 1 86818668 . C . . NT END=86820211;NT GT ./. 1 86818813 rs272497 T C 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2454,C/0.7546;Gene=ODF2L/NM_001184765.1/0;CC=c.1609-146A>G;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.1522-146A>G;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.1768-146A>G;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.1720-146A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:302:34.49:0.00:34.49:1.00:0.00:1.00:60:43.9:0:0:97:54:43:NM_001007022.2(ODF2L) c.1768-146A>G,NM_001007022.2(ODF2L) c.1768-146A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 86820267 rs1182098 C T 149 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.2454,T/0.7546;PC=0.630;Gene=ODF2L/NM_001184765.1/0;CC=c.1554G>A;ProtCh=p.E518=;VC=Silent;Gene=ODF2L/NM_001184766.1/0;CC=c.1467G>A;ProtCh=p.E489=;VC=Silent;Gene=ODF2L/NM_001007022.2/0;CC=c.1713G>A;ProtCh=p.E571=;VC=Silent;Gene=ODF2L/NM_020729.2/1;CC=c.1665G>A;ProtCh=p.E555=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:30:0:0:39:1303:148.90:82.55:66.35:1.00:1.00:1.00:60:36.1:0:0:69:80:28:NM_001007022.2(ODF2L) c.1713G>A (p.(=)),NM_001007022.2(ODF2L) c.1713G>A (p.(=)):0.74,0.74:0.697755,0.697755 1 86820376 . C . . NT END=86820455;NT GT ./. 1 86820543 . C . . NT END=86821027;NT GT ./. 1 86821067 . C . . NT END=86822125;NT GT ./. 1 86821194 rs373355899 A ACT 19 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2588,ACT/0.7412;DB;DBA=NA;PAF=A/0.2588,ACT/0.7412;DB;DBA=NA;PAF=NA;NP=104;PC=0.914;Gene=ODF2L/NM_001184765.1/0;CC=c.1360-654_1360-653dupAG;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.1273-654_1273-653dupAG;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.1519-654_1519-653dupAG;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.1432-130_1432-129dupAG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,ACT:8:0:6:0:2,6:61,181:0.00,19.01:0.00,0.00:0.00,19.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.0,12.5:0,0:0,0:143,102:3,49:0,25:-,NM_001007022.2(ODF2L) c.1519-653_1519-652insAG:-,0.73:-,NOT_FOUND 1 86821974 rs1182099 T A 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.2588,A/0.7412;Gene=ODF2L/NM_001184765.1/0;CC=c.1360-1432A>T;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.1273-1432A>T;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.1518+153A>T;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.1431+153A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:26:0:0:26:819:94.20:94.20:0.00:1.00:1.00:0.00:60:43.9:0:0:59:87:35:NM_001007022.2(ODF2L) c.1518+153A>T,NM_001007022.2(ODF2L) c.1518+153A>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 86822286 . C . . NT END=86823383;NT GT ./. 1 86823286 rs72508994 GA G 23 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=209;PC=0.002;Gene=ODF2L/NM_001184765.1/0;CC=c.1359+1183delT;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.1272+1183delT;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.1360-1002delT;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.1273-1002delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:GA,G:9:9:0:7:2,7:62,219:0.00,23.17:0.00,23.17:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.5,9.4:0,0:0,0:78,19:72,129:42,11:-,NM_001007022.2(ODF2L) c.1360-1002delT:-,NOT_FOUND:-,NOT_FOUND 1 86823769 rs11161803 C T 212 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.733,T/0.267;Gene=ODF2L/NM_001184765.1/0;CC=c.1359+701G>A;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.1272+701G>A;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.1359+701G>A;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.1272+701G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:33:0:0:56:1851:211.74:89.20:122.54:1.00:1.00:1.00:60:38.5:0:0:79:68:33:NM_001007022.2(ODF2L) c.1359+701G>A,NM_001007022.2(ODF2L) c.1359+701G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 86823789 . C . . NT END=86824468;NT GT ./. 1 86824575 . C . . NT END=86826107;NT GT ./. 1 86826220 . C . . NT END=86836699;NT GT ./. 1 86836837 . C . . NT END=86838112;NT GT ./. 1 86837031 rs11161805 G A 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6861,A/0.3139;PC=0.950;Gene=ODF2L/NM_001184765.1/0;CC=c.921-195C>T;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.921-195C>T;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.921-195C>T;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.921-195C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:229:26.24:0.00:26.24:1.00:0.00:1.00:60:51.1:0:0:85:65:25:NM_001007022.2(ODF2L) c.921-195C>T,NM_001007022.2(ODF2L) c.921-195C>T:0.32,0.32:NOT_FOUND,NOT_FOUND 1 86838158 rs421105 C T 149 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.2454,T/0.7546;PC=0.440;Gene=ODF2L/NM_001184765.1/0;CC=c.876G>A;ProtCh=p.V292=;VC=Silent;Gene=ODF2L/NM_001184766.1/0;CC=c.876G>A;ProtCh=p.V292=;VC=Silent;Gene=ODF2L/NM_001007022.2/0;CC=c.876G>A;ProtCh=p.V292=;VC=Silent;Gene=ODF2L/NM_020729.2/1;CC=c.876G>A;ProtCh=p.V292=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:35:0:0:40:1304:149.47:101.76:47.71:1.00:1.00:1.00:60:37.8:0:0:58:89:19:NM_001007022.2(ODF2L) c.876G>A (p.(=)),NM_001007022.2(ODF2L) c.876G>A (p.(=)):0.74,0.74:0.696881,0.696881 1 86838224 . C . . NT END=86841914;NT GT ./. 1 86841737 rs6703576 A T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7328,T/0.2672;PC=0.002;Gene=ODF2L/NM_001184765.1/0;CC=c.810+179T>A;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.810+179T>A;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.810+179T>A;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.810+179T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:37.0:0:0:51:99:30:NM_001007022.2(ODF2L) c.810+179T>A,NM_001007022.2(ODF2L) c.810+179T>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 86842102 . C . . NT END=86847923;NT GT ./. 1 86842103 rs538815359 TA T 8 rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=64;PC=0.996;Gene=ODF2L/NM_001184765.1/0;CC=c.625-3delT;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.625-3delT;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.625-3delT;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.625-3delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TA,I,T:43:19:2:4:37,2,4:1201,61,119:0.00,3.63,8.12:0.00,1.03,4.04:0.00,2.60,4.08:0.00,0.00,0.58:0.00,0.00,0.74:0.00,0.00,0.92:60,60,60:3.4,42.0,24.0:0,0,0:0,0,0:105,122,55:43,27,87:26,2,28:-,NM_001007022.2(ODF2L) c.625-3delT:-,NOT_FOUND:-,0.025903 1 86848042 . C . . NT END=86848612;NT GT ./. 1 86848686 . C . . NT END=86848815;NT GT ./. 1 86848880 . C . . NT END=86850357;NT GT ./. 1 86849084 rs272518 A G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ODF2L/NM_001184765.1/0;CC=c.373-205T>C;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.373-205T>C;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.373-205T>C;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.373-205T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:142:16.56:0.00:16.56:1.00:0.00:1.00:60:50.8:0:0:55:96:32:NM_001007022.2(ODF2L) c.373-205T>C,NM_001007022.2(ODF2L) c.373-205T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 86850485 . C . . NT END=86851139;NT GT ./. 1 86850624 rs2273941 T G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6851,G/0.3149;PC=0.038;Gene=ODF2L/NM_001184765.1/0;CC=c.247-140A>C;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.247-140A>C;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.247-140A>C;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.247-140A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:381:43.78:0.00:43.78:1.00:0.00:1.00:60:37.8:0:0:90:60:33:NM_001007022.2(ODF2L) c.247-140A>C,NM_001007022.2(ODF2L) c.247-140A>C:0.33,0.33:NOT_FOUND,NOT_FOUND 1 86851274 . C . . NT END=86852596;NT GT ./. 1 86851420 rs1407719 A G 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6853,G/0.3147;PC=0.033;Gene=ODF2L/NM_001184765.1/0;CC=c.114-147T>C;VC=Intron;Gene=ODF2L/NM_001184766.1/0;CC=c.114-147T>C;VC=Intron;Gene=ODF2L/NM_001007022.2/0;CC=c.114-147T>C;VC=Intron;Gene=ODF2L/NM_020729.2/1;CC=c.114-147T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:288:33.09:0.00:33.09:1.00:0.00:1.00:60:32.0:0:0:113:38:23:NM_001007022.2(ODF2L) c.114-147T>C,NM_001007022.2(ODF2L) c.114-147T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 1 86852621 rs2390096 A G 70 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6853,G/0.3147;PC=0.028;Gene=ODF2L/NM_001184765.1/0;CC=c.90T>C;ProtCh=p.C30=;VC=Silent;Gene=ODF2L/NM_001184766.1/0;CC=c.90T>C;ProtCh=p.C30=;VC=Silent;Gene=ODF2L/NM_001007022.2/0;CC=c.90T>C;ProtCh=p.C30=;VC=Silent;Gene=ODF2L/NM_020729.2/1;CC=c.90T>C;ProtCh=p.C30=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:14:0:0:18:610:69.54:45.73:23.80:1.00:1.00:1.00:60:33.9:0:0:73:78:25:NM_001007022.2(ODF2L) c.90T>C (p.(=)),NM_001007022.2(ODF2L) c.90T>C (p.(=)):0.32,0.32:0.315624,0.315624 1 86852711 . A . . NT END=86889930;NT GT ./. 1 86890117 . G . . NT END=86891021;NT GT ./. 1 86890931 rs1158505 T A 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.3824,A/0.6176;Gene=CLCA2/NM_006536.5/1;CC=c.187-91T>A;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:19:0:0:19:609:69.94:66.16:3.78:1.00:1.00:1.00:60:52.0:0:0:55:96:33:NM_006536.5(CLCA2) c.187-91T>A,NM_006536.5(CLCA2) c.187-91T>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 86891005 rs1158506 C A 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.4441,A/0.5559;PC=0.970;Gene=CLCA2/NM_006536.5/1;CC=c.187-17C>A;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:30:0:0:16,17:526,588:50.31,0.00:39.42,0.00:10.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.0,7.0:0,0:0,0:54,49:96,101:35,12:NM_006536.5(CLCA2) c.187-17C>A,-:0.57,-:0.582715,- 1 86891160 . G . . NT END=86894100;NT GT ./. 1 86891179 rs2210641 T C 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.6821,C/0.3179;Gene=CLCA2/NM_006536.5/1;CC=c.324+20T>C;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:22:0:0:24,15:816,489:81.77,0.00:29.40,0.00:52.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,9.2:0,0:0,0:81,74:60,70:21,19:NM_006536.5(CLCA2) c.324+20T>C,-:0.31,-:0.293181,- 1 86894252 . G . . NT END=86896544;NT GT ./. 1 86894371 rs1334147 G T 70 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.3816,T/0.6184;Gene=CLCA2/NM_006536.5/1;CC=c.475+120G>T;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:C,T:21:2:0:0:1,20:6,606:0.14,69.64:0.00,4.63:0.14,65.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.0,46.1:0,0:0,0:131,89:20,61:0,43:NM_006536.5(CLCA2) c.475+120G>T,NM_006536.5(CLCA2) c.475+120G>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 86894496 rs2151709 T C 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3812,C/0.6188;Gene=CLCA2/NM_006536.5/1;CC=c.475+245T>C;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:226:25.94:0.00:25.94:1.00:0.00:1.00:60:67.3:0:0:133:18:12:NM_006536.5(CLCA2) c.475+245T>C,NM_006536.5(CLCA2) c.475+245T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 1 86896354 rs4292929 G A 56 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1769,A/0.8231;PC=0.028;Gene=CLCA2/NM_006536.5/1;CC=c.476-191G>A;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:16:0:0:16:481:55.66:55.66:0.00:1.00:1.00:0.00:60:51.1:0:0:29:122:25:NM_006536.5(CLCA2) c.476-191G>A,NM_006536.5(CLCA2) c.476-191G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 86896541 rs3737672 G A 257 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.6338,A/0.3662;PC=0.001;Gene=CLCA2/NM_006536.5/1;CC=c.476-4G>A;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:71:54:0:0:71:2237:257.42:150.91:106.52:1.00:1.00:1.00:60:44.7:0:0:59:89:30:NM_006536.5(CLCA2) c.476-4G>A,NM_006536.5(CLCA2) c.476-4G>A:0.37,0.37:0.331001,0.331001 1 86896654 . G . . NT END=86898051;NT GT ./. 1 86897973 rs1334150 T C 117 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.1881,C/0.8119;Gene=CLCA2/NM_006536.5/1;CC=c.585-79T>C;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:30:0:0:31:1025:117.26:103.58:13.68:1.00:1.00:1.00:60:34.5:0:0:37:114:19:NM_006536.5(CLCA2) c.585-79T>C,NM_006536.5(CLCA2) c.585-79T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 86898212 . G . . NT END=86900200;NT GT ./. 1 86898315 rs3737159 T C 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7288,C/0.2712;Gene=CLCA2/NM_006536.5/1;CC=c.744+104T>C;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:4:0:0:8,13:264,412:24.15,0.00:3.04,0.00:21.11,0.00:0.99,0.00:0.86,0.00:1.00,0.00:60,60:38.5,16.9:0,0:0,0:82,106:68,42:12,22:NM_006536.5(CLCA2) c.744+104T>C,-:0.28,-:NOT_FOUND,- 1 86899940 rs3835427 AC A 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AC/0.7069,A/0.2931;NP=82;PC=0.010;Gene=CLCA2/NM_006536.5/1;CC=c.745-260delC;VC=Intron;DM=CLCA2/CLCA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:AC,A:5:5:0:3:2,3:62,91:0.00,9.07:0.00,9.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,0.0:0,0:0,0:33,49:118,102:33,40:-,NM_006536.5(CLCA2) c.745-260delC:-,0.29:-,NOT_FOUND 1 86900429 . G . . NT END=86904558;NT GT ./. 1 86904790 . G . . NT END=86905830;NT GT ./. 1 86904930 rs56187142 T C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9391,C/0.0609;Gene=CLCA2/NM_006536.5/1;CC=c.1203+141T>C;VC=Intron;DM=CLCA2/CLCA;DM=CLCA2/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:C,T:13:0:0:0:8,5:275,146:27.57,0.00:0.00,0.00:27.57,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.4,4.6:0,0:0,0:92,54:57,96:11,23:NM_006536.5(CLCA2) c.1203+141T>C,-:0.06,-:NOT_FOUND,- 1 86905695 rs55825812 G A 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9391,A/0.0609;Gene=CLCA2/NM_006536.5/1;CC=c.1204-136G>A;VC=Intron;DM=CLCA2/CLCA;DM=CLCA2/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:7,9:233,276:21.88,0.00:21.88,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:33.3,9.3:0,0:0,0:32,30:119,120:19,29:NM_006536.5(CLCA2) c.1204-136G>A,-:0.06,-:NOT_FOUND,- 1 86906009 . G . . NT END=86907119;NT GT ./. 1 86906055 rs55812833 T C 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.9391,C/0.0609;Gene=CLCA2/NM_006536.5/1;CC=c.1381+47T>C;VC=Intron;DM=CLCA2/CLCA;DM=CLCA2/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:6:0:0:19,14:638,468:63.06,0.00:2.57,0.00:60.49,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:46.8,5.0:0,0:0,0:115,125:36,24:11,15:NM_006536.5(CLCA2) c.1381+47T>C,-:0.06,-:0.039905,- 1 86906114 rs1981082 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4784,C/0.5216;Gene=CLCA2/NM_006536.5/1;CC=c.1381+106T>C;VC=Intron;DM=CLCA2/CLCA;DM=CLCA2/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:13:0:0:0:5,8:159,262:14.52,0.00:0.00,0.00:14.52,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:67.4,2.4:0,0:0,0:137,114:14,36:13,29:NM_006536.5(CLCA2) c.1381+106T>C,-:0.52,-:NOT_FOUND,- 1 86907227 . G . . NT END=86909469;NT GT ./. 1 86909695 . G . . NT END=86913190;NT GT ./. 1 86909896 rs76121333 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9369,T/0.0631;PC=0.001;Gene=CLCA2/NM_006536.5/1;CC=c.1713+202C>T;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:0:0:0:2,2:67,67:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.94:0.00,0.00:0.00,0.94:60,60:9.5,33.5:0,0:0,0:79,85:71,65:63,35:-,NM_006536.5(CLCA2) c.1713+202C>T:-,0.06:-,NOT_FOUND 1 86913265 rs2275001 C T 127 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=C/0.7454,T/0.2546;PC=0.001;Gene=CLCA2/NM_006536.5/1;CC=c.1788C>T;ProtCh=p.R596=;VC=Silent;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:96:74:0:0:53,43:1786,1350:0.00,126.81:0.00,83.59:0.00,43.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,44.3:0,0:0,0:75,64:74,87:34,33:-,NM_006536.5(CLCA2) c.1788C>T (p.(=)):-,0.26:-,0.225511 1 86913462 . G . . NT END=86916245;NT GT ./. 1 86916417 . G . . NT END=86919051;NT GT ./. 1 86919011 rs3820041 G A 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.9379,A/0.0621;Gene=CLCA2/NM_006536.5/1;CC=c.2156-41G>A;VC=Intron;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:39:0:0:18,25:563,819:52.20,0.00:40.30,0.00:11.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,9.8:0,0:0,0:38,40:112,109:31,31:NM_006536.5(CLCA2) c.2156-41G>A,-:0.06,-:0.042308,- 1 86919286 . G . . NT END=86920767;NT GT ./. 1 86920904 rs2390057 A G 128 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.6711,G/0.3289;PC=0.030;Gene=CLCA2/NM_006536.5/1;CC=c.2526A>G;ProtCh=p.Q842=;VC=Silent;DM=CLCA2/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:54:0:0:41,39:1308,1330:0.00,127.55:0.00,71.14:0.00,56.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,36.8:0,0:0,0:75,77:74,72:37,35:-,NM_006536.5(CLCA2) c.2526A>G (p.(=)):-,0.34:-,0.304552 1 86921211 . a . . NT END=86934654;NT GT ./. 1 86934817 . G . . NT END=86939099;NT GT ./. 1 86934966 rs1321697 C A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7348,A/0.2652,T/.;Gene=CLCA1/NM_001285.3/1;CC=c.162+150C>A;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,C:8:0:0:0:4,4:121,135:11.60,0.00:0.00,0.00:11.60,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:38.2,42.2:0,0:0,0:110,39:40,111:13,24:NM_001285.3(CLCA1) c.162+150C>A,-:0.26,-:NOT_FOUND,- 1 86935036 rs2753338 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4291,T/0.5709;Gene=CLCA1/NM_001285.3/1;CC=c.162+220C>T;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:0:0:0:1,3:36,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,56.3:0,0:0,0:55,98:96,52:0,22:-,NM_001285.3(CLCA1) c.162+220C>T:-,0.56:-,NOT_FOUND 1 86938840 rs2753377 T A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2941,A/0.7059;PC=0.005;Gene=CLCA1/NM_001285.3/1;CC=c.163-260T>A;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:202:23.06:23.06:0.00:1.00:1.00:0.00:60:68.0:0:0:55:94:30:NM_001285.3(CLCA1) c.163-260T>A,NM_001285.3(CLCA1) c.163-260T>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 86938908 rs2753378 C T 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2943,T/0.7057;Gene=CLCA1/NM_001285.3/1;CC=c.163-192C>T;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:243:28.11:28.11:0.00:1.00:1.00:0.00:60:83.6:0:0:77:73:26:NM_001285.3(CLCA1) c.163-192C>T,NM_001285.3(CLCA1) c.163-192C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 86939130 rs2145412 C T 172 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.1178,A/.,T/0.8822;PC=1.000;Gene=CLCA1/NM_001285.3/1;CC=c.193C>T;ProtCh=p.L65F;VC=Missense;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:36:0:0:47:1499:172.29:100.49:71.80:1.00:1.00:1.00:60:41.0:0:0:62:89:32:NM_001285.3(CLCA1) c.=,NM_001285.3(CLCA1) c.=:0.9,0.9:0.884438,0.884438 1 86939241 . G . . NT END=86939411;NT GT ./. 1 86939390 rs2180762 G A 218 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.08486,A/0.9151;PC=0.001;Gene=CLCA1/NM_001285.3/1;CC=c.304-22G>A;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:A:59:40:0:0:59:1903:218.36:127.21:91.15:1.00:1.00:1.00:60:36.3:0:0:71:75:29:NM_001285.3(CLCA1) c.304-22G>A,NM_001285.3(CLCA1) c.304-22G>A:0.92,0.92:0.91427,0.91427 1 86939560 . G . . NT END=86942130;NT GT ./. 1 86942237 . G . . NT END=86947887;NT GT ./. 1 86947747 rs1321695 C A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5182,A/0.4818;Gene=CLCA1/NM_001285.3/1;CC=c.558-141C>A;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,C:7:7:0:0:3,4:101,139:9.46,0.00:9.46,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:33.7,0.0:0,0:0,0:70,64:81,86:27,19:NM_001285.3(CLCA1) c.558-141C>A,-:0.48,-:NOT_FOUND,- 1 86947975 rs1321694 A T 71 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.6324,T/0.3676;PC=0.060;Gene=CLCA1/NM_001285.3/1;CC=c.645A>T;ProtCh=p.V215=;VC=Silent;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:63:43:0:0:36,1,26:1145,27,772:0.00,1.15,71.23:0.00,1.29,38.82:0.00,-0.14,32.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.1,59.0,37.9:0,0,0:0,0,0:80,125,65:68,26,85:40,0,36:-,NM_001285.3(CLCA1) c.645A>T (p.(=)):-,0.38:-,0.319852 1 86948066 . G . . NT END=86951025;NT GT ./. 1 86951245 . G . . NT END=86952208;NT GT ./. 1 86952324 rs2734705 A G 370 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.113,G/0.887;PC=0.999;Gene=CLCA1/NM_001285.3/1;CC=c.1070A>G;ProtCh=p.N357S;VC=Missense;DM=CLCA1/CLCA;DM=CLCA1/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:97:61:0:0:97:3236:369.75:162.73:207.02:1.00:1.00:1.00:60:41.2:0:0:82:67:36:NM_001285.3(CLCA1) c.1070A>G (p.Asn357Ser),NM_001285.3(CLCA1) c.1070A>G (p.Asn357Ser):0.87,0.87:0.869137,0.869137 1 86952437 . G . . NT END=86954678;NT GT ./. 1 86954472 rs2753337 C T 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1558,T/0.8442;Gene=CLCA1/NM_001285.3/1;CC=c.1183-207C>T;VC=Intron;DM=CLCA1/CLCA;DM=CLCA1/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:245:28.28:28.28:0.00:1.00:1.00:0.00:60:49.8:0:0:61:89:50:NM_001285.3(CLCA1) c.1183-207C>T,NM_001285.3(CLCA1) c.1183-207C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 86954854 . G . . NT END=86956947;NT GT ./. 1 86956785 rs2753342 C G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1238,G/0.8762;Gene=CLCA1/NM_001285.3/1;CC=c.1358-163C>G;VC=Intron;DM=CLCA1/CLCA;DM=CLCA1/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:60:68.5:0:0:30:120:18:NM_001285.3(CLCA1) c.1358-163C>G,NM_001285.3(CLCA1) c.1358-163C>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 86957055 . G . . NT END=86959066;NT GT ./. 1 86957286 rs2753343 G A 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1242,A/0.8758;PC=0.023;Gene=CLCA1/NM_001285.3/1;CC=c.1464+232G>A;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:185:21.36:0.00:21.36:1.00:0.00:1.00:60:36.8:0:0:66:83:58:NM_001285.3(CLCA1) c.1464+232G>A,NM_001285.3(CLCA1) c.1464+232G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 86958845 rs5744400 C CT 34 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.08506,CT/0.9149;DB;DBA=NA;PAF=C/0.08506,CT/0.9149;NP=469;Gene=CLCA1/NM_001285.3/1;CC=c.1465-219_1465-218insT;VC=Intron;DM=CLCA1/CLCA;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:CT:10:10:10:0:10:291:33.86:33.86:0.00:1.00:1.00:0.00:70:7.6:0:0:35:114:13:NM_001285.3(CLCA1) c.1465-222_1465-221insT,NM_001285.3(CLCA1) c.1465-222_1465-221insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 86959014 rs2753346 T C 146 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.146,C/0.854;Gene=CLCA1/NM_001285.3/1;CC=c.1465-53T>C;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:C:39:36:0:0:39:1272:145.76:117.73:28.03:1.00:1.00:1.00:60:36.7:0:0:39:112:27:NM_001285.3(CLCA1) c.1465-53T>C,NM_001285.3(CLCA1) c.1465-53T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 86959173 rs2791494 T C 363 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.1504,C/0.8496;Gene=CLCA1/NM_001285.3/1;CC=c.1571T>C;ProtCh=p.M524T;VC=Missense;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:100:73:0:0:99,1:3161,10:362.55,0.10:196.34,0.10:166.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,62.0:0,0:0,0:74,96:74,55:31,0:NM_001285.3(CLCA1) c.1571T>C (p.Met524Thr),NM_001285.3(CLCA1) c.1571T>C (p.Met524Thr):0.84,0.84:0.801707,0.801707 1 86959283 . G . . NT END=86959869;NT GT ./. 1 86959424 rs1321690 C A 52 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2634,A/0.7366;Gene=CLCA1/NM_001285.3/1;CC=c.1680+142C>A;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:1:0:0:16:441:51.57:1.89:49.68:1.00:1.00:1.00:60:60.6:0:0:80:69:37:NM_001285.3(CLCA1) c.1680+142C>A,NM_001285.3(CLCA1) c.1680+142C>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 86959796 rs1321689 C T 219 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.2788,T/0.7212;Gene=CLCA1/NM_001285.3/1;CC=c.1681-74C>T;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:T:58:49:0:0:58:1911:218.69:166.86:51.83:1.00:1.00:1.00:60:42.3:0:0:46:99:29:NM_001285.3(CLCA1) c.1681-74C>T,NM_001285.3(CLCA1) c.1681-74C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 86960132 . G . . NT END=86961187;NT GT ./. 1 86961359 . G . . NT END=86964254;NT GT ./. 1 86964075 rs2753356 T G 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2714,G/0.7286;PC=0.006;Gene=CLCA1/NM_001285.3/1;CC=c.2114-180T>G;VC=Intron;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,G:13:13:0:0:1,12:32,380:2.56,43.29:2.56,43.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:32.0,42.7:0,0:0,0:16,37:134,109:0,9:NM_001285.3(CLCA1) c.2114-180T>G,NM_001285.3(CLCA1) c.2114-180T>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 86964131 rs11302985 CT C 88 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=CT/0.2714,C/0.7286;NP=2644;Gene=CLCA1/NM_001285.3/1;CC=c.2114-123delT;VC=Intron;DM=CLCA1/CLCA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:24:0:26:26:757:88.05:74.00:14.06:1.00:1.00:1.00:60:16.8:0:0:41:109:26:NM_001285.3(CLCA1) c.2114-123delT,NM_001285.3(CLCA1) c.2114-123delT:0.72,0.72:NOT_FOUND,NOT_FOUND 1 86964185 rs5744427 AAGAAAAC A 62 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=AAGAAAAC/0.9347,A/0.0653;DB;DBA=NA;PAF=AAGAAAAC/0.9347,A/0.0653;NP=415;Gene=CLCA1/NM_001285.3/1;CC=c.2114-66_2114-60delAAACAGA;VC=Intron;DM=CLCA1/CLCA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAGAAAAC,A:38:31:0:20:18,20:519,638:0.00,61.96:0.00,50.23:0.00,11.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.4,9.7:0,0:0,0:57,66:92,83:41,30:-,NM_001285.3(CLCA1) c.2114-69_2114-63delAGAAAAC:-,0.05:-,NOT_FOUND 1 86964495 . G . . NT END=86965336;NT GT ./. 1 86965419 rs1882753 T C 71 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6474,C/0.3526;Gene=CLCA1/NM_001285.3/1;CC=c.2436T>C;ProtCh=p.T812=;VC=Silent;DM=CLCA1/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:37:0:0:24,22:738,765:71.41,0.00:48.48,0.00:22.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.5,2.8:0,0:0,0:62,75:81,76:34,26:NM_001285.3(CLCA1) c.2436T>C (p.(=)),-:0.35,-:0.262304,- 1 86965729 . G . . NT END=87012802;NT GT ./. 1 87012962 . G . . NT END=87025614;NT GT ./. 1 87013145 rs1321680 C T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.397,T/0.603;PC=0.327;Gene=CLCA4/NM_012128.3/1;CC=c.159+184C>T;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:0:0:0:13:443:50.50:0.00:50.50:1.00:0.00:1.00:60:37.3:0:0:116:35:25:NM_012128.3(CLCA4) c.159+184C>T,NM_012128.3(CLCA4) c.159+184C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 87018553 rs78801141 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.994,T/0.00599;NP=108;NP=2;PC=0.997;Gene=CLCA4/NM_012128.3/1;CC=c.159+5592C>T;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:C,T:8:0:0:0:1,7:31,225:0.00,24.53:0.00,0.00:0.00,24.53:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,77.6:0,0:0,0:138,104:13,47:0,31:-,NM_012128.3(CLCA4) c.159+5592C>T:-,0.01:-,NOT_FOUND 1 87018554 rs79435861 G C 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9942,C/0.005791;NP=115;PC=1.000;Gene=CLCA4/NM_012128.3/1;CC=c.159+5593G>C;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,C,G:8:0:0:0:1,6,1:9,213,34:0.48,22.81,0.00:0.00,0.00,0.00:0.48,22.81,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:115.0,71.3,0.0:0,0,0:0,0,0:138,90,139:13,60,12:0,28,0:NM_012128.3(CLCA4) c.159+5593G>C,-:0.01,-:NOT_FOUND,- 1 87018768 rs6676936 A G 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.0007987,G/0.9992;NP=3046;PC=1.000;Gene=CLCA4/NM_012128.3/1;CC=c.159+5807A>G;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:12:0:0:13:371:43.27:31.54:11.73:1.00:1.00:1.00:60:56.8:0:0:72:79:31:NM_012128.3(CLCA4) c.159+5807A>G,NM_012128.3(CLCA4) c.159+5807A>G:1,1:NOT_FOUND,NOT_FOUND 1 87025756 . G . . NT END=87025893;NT GT ./. 1 87026042 . G . . NT END=87029343;NT GT ./. 1 87026284 rs1321678 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.02935,T/0.9706;Gene=CLCA4/NM_012128.3/1;CC=c.448+243C>T;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:163:19.14:0.00:19.14:1.00:0.00:1.00:60:43.0:0:0:84:65:16:NM_012128.3(CLCA4) c.448+243C>T,NM_012128.3(CLCA4) c.448+243C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 87029453 . G . . NT END=87030956;NT GT ./. 1 87031135 . G . . NT END=87031484;NT GT ./. 1 87031315 rs772603 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2812,G/0.7188;PC=0.009;Gene=CLCA4/NM_012128.3/1;CC=c.736-170A>G;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:3:0:0:8:268:30.62:11.03:19.58:1.00:1.00:1.00:60:41.6:0:0:71:79:26:NM_012128.3(CLCA4) c.736-170A>G,NM_012128.3(CLCA4) c.736-170A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 87031704 . G . . NT END=87033106;NT GT ./. 1 87033335 . G . . NT END=87036759;NT GT ./. 1 87036746 rs772599 C A 167 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.1354,A/0.8646;Gene=CLCA4/NM_012128.3/1;CC=c.1183-14C>A;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA;DM=CLCA4/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A:45:37:0:0:45:1451:166.51:125.32:41.20:1.00:1.00:1.00:60:39.7:0:0:48:101:29:NM_012128.3(CLCA4) c.1183-14C>A,NM_012128.3(CLCA4) c.1183-14C>A:0.85,0.85:0.778931,0.778931 1 87036938 . G . . NT END=87038296;NT GT ./. 1 87038404 . G . . NT END=87040222;NT GT ./. 1 87039945 rs772598 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.356,G/0.644;Gene=CLCA4/NM_012128.3/1;CC=c.1468-278A>G;VC=Intron;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:31.2:0:0:25:126:21:NM_012128.3(CLCA4) c.1468-278A>G,NM_012128.3(CLCA4) c.1468-278A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 87040439 . G . . NT END=87041014;NT GT ./. 1 87041283 . G . . NT END=87043584;NT GT ./. 1 87043756 . G . . NT END=87045036;NT GT ./. 1 87045271 . G . . NT END=87045624;NT GT ./. 1 87045896 rs77067122 TCCTACA T 141 PASS VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=TCCTACA/0.2929,T/0.7071;DB;DBA=NA;PAF=TCCTACA/0.2929,T/0.7071;NP=2993;PC=0.001;Gene=CLCA4/NM_012128.3/1;CC=c.2634_2639delACCTAC;ProtCh=p.T886_P887del;VC=InFrameDel;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,TCCTACA,T:53:27:0:43:1,10,42:9,329,1324:0.06,0.00,141.35:-0.01,0.00,78.24:0.06,0.00,63.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:75.0,39.8,2.6:0,0,0:0,0,0:105,130,65:46,17,85:0,4,19:-,NM_012128.3(CLCA4) c.2634_2639delACCTAC (p.Thr878_Pro879[4]):-,0.72:-,NOT_FOUND 1 87045902 rs574759485 A T 31 idl VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9894,T/0.006989;DB;DBA=NA;PAF=A/0.9894,ACCTACT/0.003594;DB;DBA=NA;PAF=A/0.9894,ACCTACT/0.003594;PC=0.001;Gene=CLCA4/NM_012128.3/1;CC=c.2634A>T;ProtCh=p.T878=;VC=Silent;Gene=CLCA4/NR_024602.1/0;VC=NonCoding;DM=CLCA4/CLCA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,G,T:11:3:0:42:1,1,9:9,13,279:0.45,0.78,31.40:0.00,0.78,3.94:0.45,0.00,27.46:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:75.0,97.0,44.2:0,1,0:0,0,0:111,85,133:40,66,11:0,0,7:NM_012128.3(CLCA4) c.2634A>T (p.(=)),NM_012128.3(CLCA4) c.2634A>T (p.(=)):0.23,0.23:0.335473,0.335473 1 87046029 . A . . NT END=87170582;NT GT ./. 1 87170655 . G . . NT END=87181406;NT GT ./. 1 87181549 . G . . NT END=87185189;NT GT ./. 1 87185319 . G . . NT END=87188222;NT GT ./. 1 87188357 . G . . NT END=87189995;NT GT ./. 1 87190089 . G . . NT END=87194085;NT GT ./. 1 87194173 . G . . NT END=87195770;NT GT ./. 1 87196057 . C . . NT END=87200284;NT GT ./. 1 87200375 . G . . NT END=87200761;NT GT ./. 1 87200729 rs263483 C G 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.4305,G/0.5695;Gene=SH3GLB1/NM_001206651.1/0;CC=c.748-33C>G;VC=Intron;Gene=SH3GLB1/NM_001206652.1/1;CC=c.724-33C>G;VC=Intron;Gene=SH3GLB1/NM_001206653.1/0;CC=c.361-33C>G;VC=Intron;Gene=SH3GLB1/NM_016009.4/0;CC=c.661-33C>G;VC=Intron;DM=SH3GLB1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:21:0:0:9,15:307,458:0.00,46.01:0.00,33.07:0.00,12.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,49.9:0,0:0,0:40,36:99,115:21,24:-,NM_001206652.1(SH3GLB1) c.724-33C>G:-,0.55:-,0.478779 1 87200863 . G . . NT END=87207890;NT GT ./. 1 87208120 . G . . NT END=87208810;NT GT ./. 1 87208919 . G . . NT END=87329156;NT GT ./. 1 87250711 rs191616540 T G 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.9986,G/0.001398;NP=5;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:50:42:0:0:21,29:619,887:57.14,0.00:48.95,0.00:8.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,8.7:0,0:0,0:51,61:99,89:44,31:chr1 g.87250710T>G (intergenic),-:0.0014,-:NOT_FOUND,- 1 87329289 . C . . NT END=87333735;NT GT ./. 1 87333786 . C . . NT END=87346344;NT GT ./. 1 87346409 . C . . NT END=87368963;NT GT ./. 1 87369131 rs11555169 C A 99 nt VT=SNV;PN=A;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.9902,A/0.009784;PC=0.956;Gene=SEP15/NM_004261.3/1;CC=c.85G>T;ProtCh=p.V29L;VC=Missense;Gene=SEP15/NM_203341.1/0;CC=c.85G>T;ProtCh=p.V29L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:79:30:0:0:34,45:1066,1347:99.41,0.00:25.14,0.00:74.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,13.6:0,0:0,0:95,79:53,65:41,38:NM_004261.3(SEP15) c.85G>T (p.Val29Leu),-:0.01,-:0.012504,- 1 87369132 . C . . NT END=87379710;NT GT ./. 1 87379795 . T . . NT END=87380719;NT GT ./. 1 87380844 . G . . NT END=87538616;NT GT ./. 1 87511177 rs4656138 C T 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.2626,T/0.7374;PC=1.000;Gene=HS2ST1/NM_001134492.1/0;CC=c.125-27440C>T;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.125-27440C>T;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:4:0:0:15:512:58.35:13.42:44.93:1.00:1.00:1.00:60:38.5:0:0:83:68:27:NM_012262.3(HS2ST1) c.125-27440C>T,NM_012262.3(HS2ST1) c.125-27440C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 87511398 rs7534656 C T 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.2085,T/0.7915;PC=1.000;Gene=HS2ST1/NM_001134492.1/0;CC=c.125-27219C>T;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.125-27219C>T;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:7:0:0:14:455:52.18:22.46:29.71:1.00:1.00:1.00:60:35.1:0:0:68:83:36:NM_012262.3(HS2ST1) c.125-27219C>T,NM_012262.3(HS2ST1) c.125-27219C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 87511720 rs1573202 C T 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2806,T/0.7194;PC=0.161;Gene=HS2ST1/NM_001134492.1/0;CC=c.125-26897C>T;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.125-26897C>T;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:4:0:0:9:290:33.29:15.11:18.18:1.00:1.00:1.00:60:42.0:0:0:66:85:31:NM_012262.3(HS2ST1) c.125-26897C>T,NM_012262.3(HS2ST1) c.125-26897C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 87512392 rs12756724 T C 84 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2067,C/0.7933;PC=0.304;Gene=HS2ST1/NM_001134492.1/0;CC=c.125-26225T>C;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.125-26225T>C;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:8:0:0:23:735:84.46:19.73:64.73:1.00:1.00:1.00:60:53.9:0:0:110:41:17:NM_012262.3(HS2ST1) c.125-26225T>C,NM_012262.3(HS2ST1) c.125-26225T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 87512442 rs10157490 A G 39 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.806;Gene=HS2ST1/NM_001134492.1/0;CC=c.125-26175A>G;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.125-26175A>G;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:4:0:0:11:341:39.32:8.73:30.59:1.00:1.00:1.00:60:83.5:0:0:132:19:4:NM_012262.3(HS2ST1) c.125-26175A>G,NM_012262.3(HS2ST1) c.125-26175A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 87512462 rs10159338 T C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.054;Gene=HS2ST1/NM_001134492.1/0;CC=c.125-26155T>C;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.125-26155T>C;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:175:20.36:0.00:20.36:1.00:0.00:1.00:60:105.5:0:0:134:17:6:NM_012262.3(HS2ST1) c.125-26155T>C,NM_012262.3(HS2ST1) c.125-26155T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 87538426 rs2390264 G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.281,A/0.719;Gene=HS2ST1/NM_001134492.1/0;CC=c.125-191G>A;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.125-191G>A;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:67.0:0:0:108:42:16:NM_012262.3(HS2ST1) c.125-191G>A,NM_012262.3(HS2ST1) c.125-191G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 87538856 . G . . NT END=87549876;NT GT ./. 1 87538962 rs1539610 G A 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1482,A/0.8518;Gene=HS2ST1/NM_001134492.1/0;CC=c.363+107G>A;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.363+107G>A;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:377:43.84:0.00:43.84:1.00:0.00:1.00:60:33.7:0:0:86:65:25:NM_012262.3(HS2ST1) c.363+107G>A,NM_012262.3(HS2ST1) c.363+107G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 87549858 rs2798675 A G 127 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.0629,G/0.9371;PC=0.001;Gene=HS2ST1/NM_001134492.1/0;CC=c.364-19A>G;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.364-19A>G;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:27:0:0:33:1108:126.54:79.51:47.02:1.00:1.00:1.00:60:39.7:0:0:56:87:31:NM_012262.3(HS2ST1) c.364-19A>G,NM_012262.3(HS2ST1) c.364-19A>G:0.94,0.94:0.912335,0.912335 1 87549963 . G . . NT END=87558213;NT GT ./. 1 87557999 rs2807950 G A 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1995,A/0.8005;PC=0.035;Gene=HS2ST1/NM_001134492.1/0;CC=c.450-215G>A;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.450-215G>A;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:225:26.24:26.24:0.00:1.00:1.00:0.00:60:36.4:0:0:54:96:29:NM_012262.3(HS2ST1) c.450-215G>A,NM_012262.3(HS2ST1) c.450-215G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 87558066 rs66709085 CCACATA C 26 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1709;Gene=HS2ST1/NM_001134492.1/0;CC=c.450-137_450-132delTACACA;VC=Intron;Gene=HS2ST1/NM_012262.3/1;CC=c.450-137_450-132delTACACA;VC=Intron;DM=HS2ST1/Sulfotransfer_2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:8:8:218:25.60:25.60:0.00:1.00:1.00:0.00:60:30.6:0:0:92:59:29:NM_012262.3(HS2ST1) c.450-147_450-142delCACATA,NM_012262.3(HS2ST1) c.450-147_450-142delCACATA:1,1:NOT_FOUND,NOT_FOUND 1 87558353 . G . . NT END=87563520;NT GT ./. 1 87563668 rs1199677 G A 283 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.03315,A/0.9669;Gene=HS2ST1/NM_001134492.1/0;CC=c.*46G>A;VC=3UTR;Gene=HS2ST1/NM_012262.3/1;CC=c.686+50G>A;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:45:0:0:79:2460:283.44:129.97:153.47:1.00:1.00:1.00:60:39.6:0:0:66:85:31:NM_012262.3(HS2ST1) c.686+50G>A,NM_012262.3(HS2ST1) c.686+50G>A:0.97,0.97:0.955943,0.955943 1 87563921 rs34223128 T G 143 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.1452,G/0.8548;DB;DBA=NA;PAF=NA;Gene=HS2ST1/NM_001134492.1/0;CC=c.*299T>G;VC=3UTR;Gene=HS2ST1/NM_012262.3/1;CC=c.686+303T>G;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C,G,T:46:40:0:0:1,42,3:7,1279,46:0.07,143.20,0.00:0.00,126.26,0.00:0.07,16.94,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:57.0,37.4,56.3:0,0,0:0,0,0:55,88,35:55,50,96:0,34,1:NM_012262.3(HS2ST1) c.686+303T>G,NM_012262.3(HS2ST1) c.686+303T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 87564110 rs1199678 G A 156 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.01937,A/0.9806;PC=0.081;Gene=HS2ST1/NM_001134492.1/0;CC=c.*488G>A;VC=3UTR;Gene=HS2ST1/NM_012262.3/1;CC=c.686+492G>A;VC=Intron;DM=HS2ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A:44:17:0:0:44:1350:155.96:41.49:114.46:1.00:1.00:1.00:60:41.7:0:0:92:56:29:NM_012262.3(HS2ST1) c.686+492G>A,NM_012262.3(HS2ST1) c.686+492G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 87564126 . G . . NT END=87569114;NT GT ./. 1 87569273 . G . . NT END=87570149;NT GT ./. 1 87570380 . G . . NT END=87797698;NT GT ./. 1 87570398 rs1621247 G A 75 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2921,A/0.7079;PC=0.041;Gene=HS2ST1/NM_012262.3/1;CC=c.*19G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:4:0:0:20:657:75.22:9.69:65.52:1.00:1.00:1.00:60:37.2:0:0:104:46:35:NM_012262.3(HS2ST1) c.*19G>A,NM_012262.3(HS2ST1) c.*19G>A:0.73,0.73:0.655196,0.655196 1 87797935 . G . . NT END=87805218;NT GT ./. 1 87805316 . G . . NT END=87805729;NT GT ./. 1 87805886 . G . . NT END=87810470;NT GT ./. 1 87810480 . A . . NT END=89150263;NT GT ./. 1 87822906 rs61773266 A AGGGT 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=135;NP=2;NP=3;NP=5;NP=8;Gene=LINC01364/NR_038324.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:AGGGT:2:3:4:0:2:118:7.25:4.46:2.79:0.94:0.89:0.94:70:7.5:2:0:68:74:18:NR_038324.1(LOC100505768) n.190+352_190+353insACCC,NR_038324.1(LOC100505768) n.190+352_190+353insACCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 87884567 rs12741064 G A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7292,A/0.2708 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:120:13.90:13.90:0.00:1.00:1.00:0.00:60:40.5:0:0:101:49:8:chr1 g.87884566G>A (intergenic),chr1 g.87884566G>A (intergenic):0.26,0.26:NOT_FOUND,NOT_FOUND 1 88208626 . ATGTGTGTG A 9 idl,rn VT=DEL;SST=Single;DP=7;NP=38;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:ATGTGTGTG,A:4:7:0:6:1,3:10,164:0.00,8.59:0.00,7.14:0.00,1.45:0.00,0.69:0.00,0.69:0.00,0.62:60,60:77.0,96.0:0,3:0,0:35,56:116,95:0,9:-,chr1 g.88208627_88208634delTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 88342444 rs71082091 T TTGTGTG 10 sb,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;NP=6;PC=0.022;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TTGTGTG:5:4:4:0:2,3:68,130:0.00,9.53:0.00,1.29:0.00,8.24:0.00,0.73:0.00,0.94:0.00,0.96:60,70:0.0,7.0:0,1:0,0:31,66:68,66:8,42:-,chr1 g.88342444_88342445insTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 88656453 rs28663573 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.362,C/0.638;NP=4;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:138:15.71:9.79:5.92:1.00:1.00:1.00:60:79.0:0:0:38:71:6:chr1 g.88656452G>C (intergenic),chr1 g.88656452G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 88658021 rs68045705 AACAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=71;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AACAC,A:3:4:0:3:1,2:33,101:0.00,6.85:0.00,5.26:0.00,1.59:0.00,0.94:0.00,0.94:0.00,0.79:60,60:34.0,4.0:0,1:0,0:46,81:34,68:0,7:-,chr1 g.88658022_88658025delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 88843507 rs3059485 C CTGTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5024,CTG/.,CTGTG/0.4976;DB;DBA=NA;PAF=C/0.5024,CTG/.,CTGTG/0.4976;NP=1;NP=20;NP=71;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,CTGTG:3:3:3:0:1,2:36,94:0.00,6.75:0.00,6.90:0.00,-0.15:0.00,0.94:0.00,0.89:0.00,0.79:60,60:63.0,13.0:0,1:0,0:110,63:41,88:0,12:-,chr1 g.88843507_88843508insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 88863069 rs59222861 A ATGTG 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=101;NP=24;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,ATGTG:7:6:4:0:3,4:98,134:0.00,13.23:0.00,4.80:0.00,8.43:0.00,0.90:0.00,0.99:0.00,0.90:60,60:31.7,7.5:0,0:0,0:75,46:52,86:23,12:-,chr1 g.88863069_88863070insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 88963771 rs11806920 C T 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7466,T/0.2534;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,T:10:10:0:0:6,4:165,137:0.00,12.70:0.00,12.70:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:27.5,70.0:0,0:0,0:42,38:109,112:28,23:-,chr1 g.88963770C>T (intergenic):-,0.29:-,NOT_FOUND 1 88963814 rs11806923 C G 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7486,G/0.2514;PC=0.049 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:16:0:0:8,8:214,276:0.00,26.63:0.00,26.63:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.6,62.4:0,0:0,0:56,48:94,101:20,26:-,chr1 g.88963813C>G (intergenic):-,0.29:-,NOT_FOUND 1 89150150 . G GT 13 rn VT=INS;SST=Single;DP=28;Gene=PKN2-AS1/NR_110682.1/0;VC=NonCoding;Gene=PKN2/NM_006256.2/1;CC=c.-101dupT;VC=5UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,GT,D:28:27:5:3:21,5,2:721,161,63:0.00,12.95,4.29:0.00,13.25,3.18:0.00,-0.30,1.10:0.00,0.81,0.00:0.00,0.98,0.00:0.00,0.71,0.00:60,60,60:40.8,46.0,65.0:0,0,0:0,0,0:45,61,18:96,90,129:27,37,14:-,NM_006256.2(PKN2) c.-101dupT:-,NOT_FOUND:-,NOT_FOUND 1 89150312 . G . . NT END=89206670;NT GT ./. 1 89206972 . G . . NT END=89225904;NT GT ./. 1 89225976 rs430600 T C 124 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.2494,C/0.7506;PC=1.000;Gene=PKN2/NM_006256.2/1;CC=c.421T>C;ProtCh=p.L141=;VC=Silent;DM=PKN2/HR1;DM=PKN2/HR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A,C:34:27:0:0:1,33:11,1088:0.30,124.07:0.30,74.05:0.00,50.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:100.0,37.6:0,0:0,0:12,75:139,69:0,42:NM_006256.2(PKN2) c.421T>C (p.(=)),NM_006256.2(PKN2) c.421T>C (p.(=)):0.71,0.71:0.715293,0.715293 1 89226060 . G . . NT END=89236034;NT GT ./. 1 89236029 rs7541301 T A 156 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4898,A/0.5102;PC=0.322;Gene=PKN2/NM_006256.2/1;CC=c.505-6T>A;VC=Intron;DM=PKN2/HR1;DM=PKN2/HR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:40:0:0:42:1361:156.12:107.78:48.35:1.00:1.00:1.00:60:36.5:0:0:52:93:21:NM_006256.2(PKN2) c.505-6T>A,NM_006256.2(PKN2) c.505-6T>A:0.5,0.5:0.511697,0.511697 1 89236153 . G . . NT END=89237103;NT GT ./. 1 89237250 . G . . NT END=89237345;NT GT ./. 1 89237563 . G . . NT END=89246705;NT GT ./. 1 89246845 . G . . NT END=89250321;NT GT ./. 1 89250152 rs1772795 G A 37 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4874,A/0.5126;Gene=PKN2/NM_006256.2/1;CC=c.986-170G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:326:37.37:37.37:0.00:1.00:1.00:0.00:60:52.1:0:0:21:119:17:NM_006256.2(PKN2) c.986-170G>A,NM_006256.2(PKN2) c.986-170G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 1 89250508 . G . . NT END=89251786;NT GT ./. 1 89251897 . G . . NT END=89270073;NT GT ./. 1 89252013 rs530092476 A AT 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7762,AT/0.2238;DB;DBA=NA;PAF=A/0.7762,AT/0.2238;NP=198;PC=0.002;Gene=PKN2/NM_006256.2/1;CC=c.1281+127dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,AT:7:0:3:0:4,3:110,99:0.00,9.26:0.00,0.00:0.00,9.26:0.00,0.69:0.00,0.00:0.00,0.69:60,60:15.5,0.0:0,0:0,0:103,94:48,56:38,31:-,NM_006256.2(PKN2) c.1281+117_1281+118insT:-,NOT_FOUND:-,NOT_FOUND 1 89270218 . G . . NT END=89270528;NT GT ./. 1 89270389 . T C 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;PC=0.003;Gene=PKN2/NM_006256.2/1;CC=c.1426-140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:12:0:0:10,12:326,377:30.80,0.00:14.64,0.00:16.16,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.5,25.9:0,0:0,0:51,60:99,87:32,28:NM_006256.2(PKN2) c.1426-140T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 89270605 . G . . NT END=89271179;NT GT ./. 1 89271355 . G . . NT END=89271573;NT GT ./. 1 89271574 rs786906 T C 150 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4884,C/0.5116;PC=1.000;Gene=PKN2/NM_006256.2/1;CC=c.1677T>C;ProtCh=p.S559=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:29:0:0:40:1310:150.07:84.04:66.03:1.00:1.00:1.00:60:40.8:0:0:70:74:33:NM_006256.2(PKN2) c.1677T>C (p.(=)),NM_006256.2(PKN2) c.1677T>C (p.(=)):0.5,0.5:0.513894,0.513894 1 89271701 . G . . NT END=89272995;NT GT ./. 1 89273127 . G . . NT END=89273211;NT GT ./. 1 89273288 . G . . NT END=89273366;NT GT ./. 1 89273459 . G . . NT END=89279239;NT GT ./. 1 89279417 . G . . NT END=89287623;NT GT ./. 1 89287687 . G . . NT END=89289992;NT GT ./. 1 89290070 . G . . NT END=89294163;NT GT ./. 1 89294307 . G . . NT END=89298426;NT GT ./. 1 89298535 . G . . NT END=89298759;NT GT ./. 1 89298841 . G . . NT END=89298927;NT GT ./. 1 89299132 . G . . NT END=89318895;NT GT ./. 1 89319030 . C . . NT END=89322888;NT GT ./. 1 89322982 rs2794318 G A 353 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.01398,A/0.986;PC=0.001;Gene=GTF2B/NM_001514.5/1;CC=c.724C>T;ProtCh=p.L242=;VC=Silent;DM=GTF2B/TFIIB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:95:61:0:0:95:3078:352.97:189.39:163.57:1.00:1.00:1.00:60:55.3:0:0:91:58:27:NM_001514.5(GTF2B) c.=,NM_001514.5(GTF2B) c.=:0.99,0.99:0.98247,0.98247 1 89322983 rs138805281 T A 158 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.9972,A/0.002796;NP=82;PC=0.002;Gene=GTF2B/NM_001514.5/1;CC=c.723A>T;ProtCh=p.E241D;VC=Missense;DM=GTF2B/TFIIB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:96:62:0:0:51,45:1626,1424:158.08,0.00:96.00,0.00:62.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.6,38.9:0,0:0,0:82,103:68,48:28,32:NM_001514.5(GTF2B) c.723_724delATinsTC (p.Glu241Asp),-:0.0037,-:0.01061,- 1 89323171 . C . . NT END=89325564;NT GT ./. 1 89325695 . C . . NT END=89325822;NT GT ./. 1 89325970 . C . . NT END=89329663;NT GT ./. 1 89329798 . C . . NT END=89352943;NT GT ./. 1 89353051 . C . . NT END=89357165;NT GT ./. 1 89357183 . C . . NT END=89401865;NT GT ./. 1 89358452 rs58323944 A AGT 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=5;NP=64;PC=0.086;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,AGT:4:5:3:0:2,2:64,92:0.00,6.51:0.00,4.27:0.00,2.24:0.00,0.46:0.00,0.46:0.00,0.80:60,60:5.5,46.5:0,1:0,0:128,20:22,109:7,17:-,NM_001514.5(GTF2B) c.-119-u1152_-119-u1151insAC:-,NOT_FOUND:-,NOT_FOUND 1 89401929 . C . . NT END=89408687;NT GT ./. 1 89408775 . C . . NT END=89409032;NT GT ./. 1 89409107 . C . . NT END=89414773;NT GT ./. 1 89414961 . C . . NT END=89418745;NT GT ./. 1 89418836 . C . . NT END=89420831;NT GT ./. 1 89420909 . C . . NT END=89426849;NT GT ./. 1 89426971 . C . . NT END=89427063;NT GT ./. 1 89426976 . C T 93 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;PC=0.001;Gene=CCBL2/NM_001008661.2/1;CC=c.667-6G>A;VC=Intron;Gene=CCBL2/NM_001008662.2/0;CC=c.565-6G>A;VC=Intron;DM=CCBL2/Aminotran_1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:49:0:0:47,32:1503,1012:0.00,93.33:0.00,42.17:0.00,51.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,40.8:0,0:0,0:60,83:87,67:32,34:-,NM_001008661.2(CCBL2) c.667-6G>A:-,NOT_FOUND:-,NOT_FOUND 1 89427190 . C . . NT END=89427741;NT GT ./. 1 89427829 . C . . NT END=89430511;NT GT ./. 1 89430662 . C . . NT END=89434352;NT GT ./. 1 89434498 . C . . NT END=89435091;NT GT ./. 1 89435151 . C . . NT END=89448336;NT GT ./. 1 89449508 . AT A 22 rn VT=DEL;SST=Single;DP=125;NP=186;PC=1.000;Gene=CCBL2/NM_001008661.2/1;CC=c.99+4426delA;VC=Intron;Gene=CCBL2/NM_001008662.2/0;CC=c.-4+8759delA;VC=Intron;Gene=RBMXL1/NM_001162536.2/1;CC=c.1delA;ProtCh=p.M1Wfs*34;VC=FrameShiftDel;Gene=RBMXL1/NM_019610.5/0;CC=c.1delA;ProtCh=p.M1Wfs*34;VC=FrameShiftDel;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:AT,C,I,A:123:63:2:12:110,1,2,10:3427,12,61,384:0.00,-0.25,2.71,22.14:0.00,-0.13,1.33,10.44:0.00,-0.12,1.38,11.70:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.97:0.00,0.00,0.00,1.00:60,60,60,60:10.6,14.0,18.5,4.8:0,0,0,2:0,0,0,0:101,52,87,87:48,98,63,47:28,0,15,26:-,NM_001162536.2(RBMXL1) c.-10_1delAAAAAAAAAAAinsAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 89449510 . T . . NT END=89453934;NT GT ./. 1 89454034 . G . . NT END=89473407;NT GT ./. 1 89473536 . C . . NT END=89474526;NT GT ./. 1 89474818 rs17433780 A G 66 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.7398,G/0.2602;PC=0.045;Gene=GBP3/NM_018284.2/1;CC=c.1471T>C;ProtCh=p.C491R;VC=Missense;DM=GBP3/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:61:27:0:0:37,23,1:1192,724,13:0.00,66.03,0.02:0.00,24.15,0.19:0.00,41.87,-0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.8,32.7,103.0:0,0,0:0,0,0:87,83,139:58,66,12:29,21,0:-,NM_018284.2(GBP3) c.1471T>C (p.Cys491Arg):-,0.27:-,0.295787 1 89474824 . C . . NT END=89475074;NT GT ./. 1 89475135 rs10493821 C T 110 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.8013,T/0.1987;Gene=GBP3/NM_018284.2/1;CC=c.1405G>A;ProtCh=p.V469M;VC=Missense;DM=GBP3/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:55:0:0:33,37:1011,1135:0.00,110.14:0.00,62.39:0.00,47.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,40.4:0,0:0,0:75,90:68,53:27,35:-,NM_018284.2(GBP3) c.1405G>A (p.Val469Met):-,0.22:-,0.237275 1 89475178 . C . . NT END=89476586;NT GT ./. 1 89475230 rs4142706 T G 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=GBP3/NM_018284.2/1;CC=c.1363-53A>C;VC=Intron;DM=GBP3/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:11:0:0:21,15:647,478:64.05,0.00:10.08,0.00:53.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.5,17.4:0,0:0,0:110,110:41,38:29,22:NM_018284.2(GBP3) c.1363-53A>C,-:0.55,-:NOT_FOUND,- 1 89476800 . C . . NT END=89477429;NT GT ./. 1 89477711 . C . . NT END=89478867;NT GT ./. 1 89478686 rs148388176 TA T 14 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TA/0.5226,T/0.4774;NP=681;PC=0.016;Gene=GBP3/NM_018284.2/1;CC=c.868+181delT;VC=Intron;DM=GBP3/GBP_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:TA,T:10:10:0:5:5,5:143,150:0.00,14.38:0.00,14.38:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:125.8,8.6:2,0:0,0:56,84:82,67:19,46:-,NM_018284.2(GBP3) c.868+181delT:-,0.55:-,NOT_FOUND 1 89478687 . AT T,A 14 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;PC=0.001;DM=GBP3/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:T,A:5:5:0:6:4,1:129,15:14.42,1.28:14.42,1.28:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,36:117.2,160.0:1,0:0,0:58,57:85,81:22,0:NM_018284.2(GBP3) c.868+181delT,NM_018284.2(GBP3) c.868+180delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 89478854 rs4656076 C G 208 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.4527,G/0.5473,T/.;Gene=GBP3/NM_018284.2/1;CC=c.868+14G>C;VC=Intron;DM=GBP3/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G:56:43:0:0:56:1810:207.66:143.58:64.08:1.00:1.00:1.00:60:53.0:0:0:36:105:27:NM_018284.2(GBP3) c.868+14G>C,NM_018284.2(GBP3) c.868+14G>C:0.56,0.56:0.635399,0.635399 1 89478868 rs113490655 G A 84 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.865,A/0.135;PC=0.847;Gene=GBP3/NM_018284.2/1;CC=c.868C>T;ProtCh=p.R290C;VC=Missense;DM=GBP3/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:47:0:0:27,33:889,985:83.91,0.00:57.86,0.00:26.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.2,34.2:0,0:0,0:48,47:101,101:25,28:NM_018284.2(GBP3) c.868C>T (p.Arg290Cys),-:0.14,-:0.141934,- 1 89479063 rs4656077 G A 61 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.6663,A/0.3337,T/.;PC=0.989;Gene=GBP3/NM_018284.2/1;CC=c.673C>T;ProtCh=p.R225W;VC=Missense;DM=GBP3/GBP;DM=GBP3/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:32:0:0:21,41:684,1219:61.19,0.00:16.47,0.00:44.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.6,9.0:0,0:0,0:95,72:56,76:38,43:NM_018284.2(GBP3) c.673C>T (p.Arg225Trp),-:0.32,-:0.388436,- 1 89479074 rs4656078 C T 45 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.6661,T/0.3339;PC=0.307;Gene=GBP3/NM_018284.2/1;CC=c.662G>A;ProtCh=p.R221Q;VC=Missense;DM=GBP3/GBP;DM=GBP3/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:27:0:0:44,17:1246,522:0.00,44.66:0.00,9.09:0.00,35.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,65.4:0,0:0,0:83,77:65,72:43,29:-,NM_018284.2(GBP3) c.662G>A (p.Arg221Gln):-,0.32:-,0.387804 1 89479111 . C . . NT END=89479765;NT GT ./. 1 89479758 rs3795543 T C 260 nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.3566,C/0.6434;Gene=GBP3/NM_018284.2/1;CC=c.625+8A>G;VC=Intron;DM=GBP3/GBP;DM=GBP3/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:73:63:0:0:72,1:2274,15:259.67,0.00:189.48,0.00:70.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,54:42.4,245.0:0,0:0,0:32,37:115,112:21,0:NM_018284.2(GBP3) c.625+8A>G,NM_018284.2(GBP3) c.625+8A>G:0.63,0.63:0.736506,0.736506 1 89479963 . C . . NT END=89480087;NT GT ./. 1 89480340 . C . . NT END=89480969;NT GT ./. 1 89481098 . C . . NT END=89486214;NT GT ./. 1 89486037 rs7555039 C T 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3578,T/0.6422;Gene=GBP3/NM_018284.2/1;CC=c.190+178G>A;VC=Intron;DM=GBP3/GBP;DM=GBP3/GBP;DM=GBP3/GBP_C;DM=GBP3/GBP;DM=GBP3/GBP_C;DM=GBP3/GBP;DM=GBP3/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:17:0:0:17:557:63.80:63.80:0.00:1.00:1.00:0.00:60:47.5:0:0:23:128:19:NM_018284.2(GBP3) c.190+178G>A,NM_018284.2(GBP3) c.190+178G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 89486412 . G . . NT END=89519037;NT GT ./. 1 89519152 . C . . NT END=89520364;NT GT ./. 1 89520329 rs72054220 GAAAAAC G 60 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=GAAAAAC/0.615,G/0.385;DB;DBA=NA;PAF=GAAAAAC/0.615,G/0.385;NP=2295;Gene=GBP1/NM_002053.2/1;CC=c.1665+30_1665+35delGTTTTT;VC=Intron;DM=GBP1/GBP_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAAAAAC,G:29:27:0:18:11,18:355,596:0.00,59.84:0.00,48.22:0.00,11.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,0.6:0,0:0,0:32,66:114,84:31,35:-,NM_002053.2(GBP1) c.1665+30_1665+35delGTTTTT:-,0.36:-,0.433546 1 89520559 . C . . NT END=89520795;NT GT ./. 1 89520574 rs10922554 C A 217 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.2812,A/0.7188;PC=0.007;Gene=GBP1/NM_002053.2/1;CC=c.1472-16G>T;VC=Intron;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:31:0:0:60:1885:216.91:86.63:130.28:1.00:1.00:1.00:60:63.1:0:0:99:47:25:NM_002053.2(GBP1) c.1472-16G>T,NM_002053.2(GBP1) c.1472-16G>T:0.7,0.7:0.797094,0.797094 1 89520636 rs10922555 G A 150 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.2829,A/0.7171;Gene=GBP1/NM_002053.2/1;CC=c.1472-78C>T;VC=Intron;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:15:0:0:41:1305:149.96:53.75:96.21:1.00:1.00:1.00:60:99.0:0:0:90:60:40:NM_002053.2(GBP1) c.1472-78C>T,NM_002053.2(GBP1) c.1472-78C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 89520643 rs10922556 C T 143 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.2829,T/0.7171;Gene=GBP1/NM_002053.2/1;CC=c.1472-85G>A;VC=Intron;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:13:0:0:39:1247:143.29:46.01:97.28:1.00:1.00:1.00:60:99.0:0:0:91:60:40:NM_002053.2(GBP1) c.1472-85G>A,NM_002053.2(GBP1) c.1472-85G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 89520658 rs55880826 C T 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.7582,T/0.2418;Gene=GBP1/NM_002053.2/1;CC=c.1472-100G>A;VC=Intron;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:14:0:0:26,11:856,327:0.00,28.16:0.00,8.57:0.00,19.60:0.00,1.00:0.00,0.98:0.00,1.00:58,57:78.5,113.1:0,0:0,0:76,75:74,76:35,38:-,NM_002053.2(GBP1) c.1472-100G>A:-,0.24:-,NOT_FOUND 1 89520899 . C . . NT END=89521698;NT GT ./. 1 89521841 rs1048443 G C 161 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.6442,C/0.3558;Gene=GBP1/NM_002053.2/1;CC=c.1226C>G;ProtCh=p.A409G;VC=Missense;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:102:65:0:0:53,49:1669,1620:161.49,0.00:66.83,0.00:94.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,56:39.8,9.0:0,0:0,0:85,77:66,74:36,45:NM_002053.2(GBP1) c.1226C>G (p.Ala409Gly),-:0.33,-:0.371692,- 1 89521912 . C . . NT END=89522536;NT GT ./. 1 89522020 rs2390679 A C 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=GBP1/NM_002053.2/1;CC=c.1156-109T>G;VC=Intron;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:0:0:0:8,11:214,319:0.00,31.51:0.00,0.00:0.00,31.51:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.8,38.8:0,0:0,0:129,101:22,49:9,34:-,NM_002053.2(GBP1) c.1156-109T>G:-,0.26:-,NOT_FOUND 1 89522512 rs4376712 C T 131 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.6436,T/0.3564;Gene=GBP1/NM_002053.2/1;CC=c.1155+25G>A;VC=Intron;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:61:0:0:27,40:827,1318:0.00,131.25:0.00,115.46:0.00,15.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,42.1:0,0:0,0:46,44:98,107:29,17:-,NM_002053.2(GBP1) c.1155+25G>A:-,0.35:-,0.415334 1 89522646 rs1048425 G C 698 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=179;DB;DBA=NA;PAF=G/0.2817,C/0.7183;PC=0.528;Gene=GBP1/NM_002053.2/1;CC=c.1046C>G;ProtCh=p.T349S;VC=Missense;DM=GBP1/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:179:146:0:0:179:6127:697.86:453.39:244.47:1.00:1.00:1.00:60:39.3:0:0:75:73:30:NM_002053.2(GBP1) c.1046C>G (p.Thr349Ser),NM_002053.2(GBP1) c.1046C>G (p.Thr349Ser):0.7,0.7:0.794018,0.794018 1 89522818 . C . . NT END=89523674;NT GT ./. 1 89523918 . C . . NT END=89524523;NT GT ./. 1 89523927 rs60070945 C T 89 nt VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.751,T/0.249;Gene=GBP1/NM_002053.2/1;CC=c.632-10G>A;VC=Intron;DM=GBP1/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:61:21:0:0:1,30,30:10,1039,923:-0.06,0.00,88.54:-0.06,0.00,20.48:-0.00,0.00,68.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:183.0,6.1,42.2:0,0,0:0,0,0:22,108,83:127,38,65:0,20,39:-,NM_002053.2(GBP1) c.632-10G>A:-,0.25:-,0.263908 1 89524068 rs1328225 T C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6376,C/0.3624;Gene=GBP1/NM_002053.2/1;CC=c.632-151A>G;VC=Intron;DM=GBP1/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:14:0:0:0:7,7:222,164:21.38,0.00:0.00,0.00:21.38,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:39.7,29.9:0,0:0,0:96,120:55,30:42,28:NM_002053.2(GBP1) c.632-151A>G,-:0.36,-:NOT_FOUND,- 1 89524727 . C . . NT END=89524999;NT GT ./. 1 89525110 . C . . NT END=89525879;NT GT ./. 1 89525219 rs397702560 CT C 19 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.002;Gene=GBP1/NM_002053.2/1;CC=c.319-111delA;VC=Intron;DM=GBP1/GBP;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:31:3:1:11:20,3,1,7:555,48,33,339:0.00,2.42,1.99,19.22:0.00,-0.06,-0.02,1.39:0.00,2.48,2.01,17.83:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.53:0.00,0.00,0.00,1.00:60,60,60,60:24.6,80.0,33.0,41.4:1,0,0,4:0,0,0,0:141,41,39,90:9,85,111,59:7,26,0,29:-,NM_002053.2(GBP1) c.319-111delA:-,NOT_FOUND:-,NOT_FOUND 1 89525345 rs78481730 T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9962,C/0.003794;NP=2;Gene=GBP1/NM_002053.2/1;CC=c.319-236A>G;VC=Intron;DM=GBP1/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:8:0:0:0:5,3:155,98:15.58,0.00:0.00,0.00:15.58,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:43.4,0.0:0,0:0,0:127,106:21,45:14,5:NM_002053.2(GBP1) c.319-236A>G,-:0.0046,-:NOT_FOUND,- 1 89525679 rs1328227 A G 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2796,G/0.7204;Gene=GBP1/NM_002053.2/1;CC=c.318+201T>C;VC=Intron;DM=GBP1/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:G:11:11:0:0:11:273:32.35:32.35:0.00:1.00:1.00:0.00:60:48.2:0:0:42:109:35:NM_002053.2(GBP1) c.318+201T>C,NM_002053.2(GBP1) c.318+201T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 89525812 rs6701673 C G 59 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6585,G/0.3415;PC=0.001;Gene=GBP1/NM_002053.2/1;CC=c.318+68G>C;VC=Intron;DM=GBP1/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:35:0:0:19,18:631,616:0.00,59.06:0.00,49.58:0.00,9.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,73.8:0,0:0,0:50,42:99,107:35,32:-,NM_002053.2(GBP1) c.318+68G>C:-,0.36:-,NOT_FOUND 1 89525820 rs61798936 C T 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.74,T/0.26;Gene=GBP1/NM_002053.2/1;CC=c.318+60G>A;VC=Intron;DM=GBP1/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:37:0:0:18,22:593,739:0.00,72.44:0.00,60.11:0.00,12.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,64.5:0,0:0,0:57,28:92,122:32,24:-,NM_002053.2(GBP1) c.318+60G>A:-,0.27:-,NOT_FOUND 1 89526008 . C . . NT END=89528727;NT GT ./. 1 89528918 . G . . NT END=89573857;NT GT ./. 1 89569973 rs7513609 G C 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3658,C/0.6342;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,G:13:12:0:0:7,6:219,176:21.34,0.00:17.74,0.00:3.61,0.00:0.99,0.00:1.00,0.00:0.69,0.00:60,60:53.7,3.8:0,0:0,0:46,26:105,124:24,17:chr1 g.89569972G>C (intergenic),-:0.63,-:NOT_FOUND,- 1 89573975 . C . . NT END=89575359;NT GT ./. 1 89574026 rs1329119 G A 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.2616,A/0.7384,T/.;Gene=GBP2/NM_004120.4/1;CC=c.1660-52C>T;VC=Intron;DM=GBP2/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:9:0:0:13,16:430,530:40.54,0.00:6.13,0.00:34.41,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:34.6,5.1:0,0:0,0:80,123:71,26:39,7:NM_004120.3(GBP2) c.1660-52C>T,-:0.72,-:0.743262,- 1 89575554 . C . . NT END=89575846;NT GT ./. 1 89575677 rs2026043 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.373,C/0.627;Gene=GBP2/NM_004120.4/1;CC=c.1466-124A>G;VC=Intron;DM=GBP2/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,T:23:5:0:0:6,17:171,531:14.23,0.00:8.72,0.00:5.51,0.00:0.92,0.00:0.77,0.00:0.99,0.00:60,60:28.5,4.8:0,0:0,0:93,118:57,33:39,23:NM_004120.3(GBP2) c.1466-124A>G,-:0.64,-:NOT_FOUND,- 1 89575950 . C . . NT END=89578142;NT GT ./. 1 89578368 . C . . NT END=89579698;NT GT ./. 1 89579941 rs2230338 T C 192 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=165;DB;DBA=NA;PAF=T/0.373,C/0.627;PC=0.347;Gene=GBP2/NM_004120.4/1;CC=c.907A>G;ProtCh=p.S303G;VC=Missense;DM=GBP2/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:165:77:0:0:69,96:2077,3208:191.86,0.00:62.43,0.00:129.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,4.4:0,0:0,0:113,99:35,50:25,32:NM_004120.3(GBP2) c.907A>G (p.Ser303Gly),-:0.64,-:0.614178,- 1 89579980 . C . . NT END=89582674;NT GT ./. 1 89582474 rs2297024 A T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2786,T/0.7214;Gene=GBP2/NM_004120.4/1;CC=c.868+201T>A;VC=Intron;DM=GBP2/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,T:9:9:0:0:3,6:98,192:0.00,19.57:0.00,19.57:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,75.5:0,0:0,0:21,44:130,106:8,8:-,NM_004120.3(GBP2) c.868+201T>A:-,0.71:-,NOT_FOUND 1 89582690 rs1803632 G C 116 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.373,C/0.627;PC=0.002;Gene=GBP2/NM_004120.4/1;CC=c.853C>G;ProtCh=p.P285A;VC=Missense;DM=GBP2/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:75:64:0:0:36,39:1209,1214:115.59,0.00:78.04,0.00:37.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,11.7:0,0:0,0:66,75:85,75:43,27:NM_004120.3(GBP2) c.853C>G (p.Pro285Ala),-:0.64,-:0.614255,- 1 89582918 . C . . NT END=89583259;NT GT ./. 1 89583457 . C . . NT END=89585861;NT GT ./. 1 89583544 rs2209956 T C 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.3732,C/0.6268;Gene=GBP2/NM_004120.4/1;CC=c.429-88A>G;VC=Intron;DM=GBP2/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:3:0:0:8,11:280,366:26.20,0.00:3.43,0.00:22.77,0.00:0.99,0.00:0.82,0.00:0.99,0.00:60,60:35.0,1.0:0,0:0,0:89,119:61,31:9,23:NM_004120.3(GBP2) c.429-88A>G,-:0.64,-:NOT_FOUND,- 1 89585972 . C . . NT END=89586825;NT GT ./. 1 89586954 . C . . NT END=89587459;NT GT ./. 1 89587650 . G . . NT END=89597831;NT GT ./. 1 89597755 rs942442 T C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3712,C/0.6288;Gene=GBP7/NM_207398.2/1;CC=c.*77A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:25:0:0:10,16:312,517:28.43,0.00:24.52,0.00:3.92,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:56.7,11.1:0,0:0,0:32,42:114,106:25,28:NM_207398.2(GBP7) c.*77A>G,-:0.64,-:NOT_FOUND,- 1 89598087 . C . . NT END=89598940;NT GT ./. 1 89598214 rs942441 G T 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.0003994,T/0.9996;Gene=GBP7/NM_207398.2/1;CC=c.1663-128C>A;VC=Intron;DM=GBP7/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:4:0:0:17:541:62.19:9.54:52.65:1.00:1.00:1.00:60:38.9:0:0:110:41:16:NM_207398.2(GBP7) c.1663-128C>A,NM_207398.2(GBP7) c.1663-128C>A:1,1:NOT_FOUND,NOT_FOUND 1 89599135 . C . . NT END=89607228;NT GT ./. 1 89607332 . C . . NT END=89613249;NT GT ./. 1 89607479 rs6666846 G T 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3712,T/0.6288;Gene=GBP7/NM_207398.2/1;CC=c.1366-148C>A;VC=Intron;DM=GBP7/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:G,T:11:0:0:0:6,5:211,169:0.00,15.99:0.00,0.00:0.00,15.99:0.00,0.93:0.00,0.00:0.00,0.93:60,60:3.3,71.0:0,0:0,0:125,70:26,81:5,33:-,NM_207398.2(GBP7) c.1366-148C>A:-,0.64:-,NOT_FOUND 1 89607486 rs6658235 T C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2588,C/0.7412;Gene=GBP7/NM_207398.2/1;CC=c.1366-155A>G;VC=Intron;DM=GBP7/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:10:0:0:0:5,5:174,164:16.78,0.00:0.00,0.00:16.78,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:71.0,4.0:0,0:0,0:77,132:74,19:33,2:NM_207398.2(GBP7) c.1366-155A>G,-:0.72,-:NOT_FOUND,- 1 89613463 . C . . NT END=89614974;NT GT ./. 1 89614879 rs622861 T C 46 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.2606,C/0.7394;Gene=GBP7/NM_207398.2/1;CC=c.1152+96A>G;VC=Intron;DM=GBP7/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:28:27:0:0:2,15,1,10:20,465,5,315:0.59,46.27,-0.08,0.00:0.59,40.71,-0.08,0.00:0.00,5.56,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.82,0.00,0.00:60,60,60,60:114.5,35.5,127.0,7.2:0,0,0,0:0,0,0,0:102,54,52,39:39,97,99,111:11,40,0,24:NM_207398.2(GBP7) c.1152+96A>G,-:0.72,-:NOT_FOUND,- 1 89614950 . G GA 10 rn VT=INS;SST=Single;DP=63;NP=1;PC=0.001;Gene=GBP7/NM_207398.2/1;CC=c.1152+24dupT;VC=Intron;DM=GBP7/GBP_C;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,GA,D:63:60:6:3:54,6,3:1687,159,83:0.00,10.33,4.66:0.00,9.27,4.82:0.00,1.05,-0.16:0.00,0.81,0.00:0.00,0.98,0.00:0.00,0.64,0.00:60,60,60:12.6,31.2,62.0:0,0,0:0,0,0:51,48,47:99,96,103:28,7,5:-,NM_207398.2(GBP7) c.1152+24_1152+25insT:-,NOT_FOUND:-,NOT_FOUND 1 89615256 . C . . NT END=89616012;NT GT ./. 1 89615979 rs586609 C T 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.2981,T/0.7019;Gene=GBP7/NM_207398.2/1;CC=c.871+34G>A;VC=Intron;DM=GBP7/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:30:0:0:18,19:602,586:0.00,56.49:0.00,44.50:0.00,11.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,36.8:0,0:0,0:42,51:97,100:22,25:-,NM_207398.2(GBP7) c.871+34G>A:-,0.69:-,0.688528 1 89616259 . C . . NT END=89617950;NT GT ./. 1 89618148 . C . . NT END=89618350;NT GT ./. 1 89618461 . C . . NT END=89630413;NT GT ./. 1 89618472 rs68153673 GA G 39 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=GA/0.3598,G/0.6402;DB;DBA=NA;PAF=GA/0.3598,G/0.6402;NP=11;PC=0.046;Gene=GBP7/NM_207398.2/1;CC=c.319-13delT;VC=Intron;DM=GBP7/GBP;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:45:23:7:20:2,22,7,14:29,691,214,467:1.03,0.00,17.44,39.38:-0.15,0.00,6.78,18.10:1.18,0.00,10.67,21.28:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:64.0,3.4,39.4,10.8:0,0,0,1:0,0,0,0:70,134,77,101:68,13,73,35:15,7,12,23:-,NM_207398.2(GBP7) c.319-13delT:-,NOT_FOUND:-,NOT_FOUND 1 89618716 rs619478 C T 11 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2991,T/0.7009;PC=0.001;Gene=GBP7/NM_207398.2/1;CC=c.319-256G>A;VC=Intron;DM=GBP7/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:4:0:0:0:1,3:31,103:0.00,10.75:0.00,0.00:0.00,10.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,34.3:0,0:0,0:121,139:30,10:0,3:-,NM_207398.2(GBP7) c.319-256G>A:-,0.69:-,NOT_FOUND 1 89630542 . C . . NT END=89637428;NT GT ./. 1 89637578 rs676913 G A 171 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.2853,A/0.7147;PC=0.017;Gene=GBP7/NM_207398.2/1;CC=c.41C>T;ProtCh=p.T14I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:111:59:0:0:56,55:1780,1870:171.24,0.00:68.39,0.00:102.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,5.2:0,0:0,0:89,84:60,67:30,32:NM_207398.2(GBP7) c.41C>T (p.Thr14Ile),-:0.7,-:0.706443,- 1 89637619 . G . . NT END=89650936;NT GT ./. 1 89650850 rs623134 A T 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6056,T/0.3944;Gene=GBP4/NM_052941.4/1;CC=c.*87T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:18:18:0:0:10,8:318,278:0.00,26.25:0.00,26.25:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:18.4,36.2:0,0:0,0:50,37:101,112:18,17:-,NM_052941.4(GBP4) c.*87T>A:-,0.38:-,NOT_FOUND 1 89651153 . C . . NT END=89652015;NT GT ./. 1 89652071 rs561042 T C 19 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.6426,C/0.3574;Gene=GBP4/NM_052941.4/1;CC=c.1652A>G;ProtCh=p.E551G;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:51:45:0:0:9,42:254,1349:19.41,0.00:15.77,0.00:3.64,0.00:0.98,0.00:1.00,0.00:0.96,0.00:60,60:186.7,10.9:0,0:0,0:101,56:46,88:27,31:NM_052941.4(GBP4) c.1652A>G (p.Glu551Gly),-:NOT_FOUND,-:0.016915,- 1 89652072 rs561037 C T 24 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.6412,T/0.3588;Gene=GBP4/NM_052941.4/1;CC=c.1651G>A;ProtCh=p.E551K;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:46:0:0:44,9:1408,303:0.00,24.11:0.00,20.67:0.00,3.45:0.00,0.98:0.00,1.00:0.00,0.97:60,60:12.3,186.9:0,0:0,0:51,102:90,45:34,27:-,NM_052941.4(GBP4) c.1651G>A (p.Glu551Lys):-,NOT_FOUND:-,0.010687 1 89652078 rs608339 A T 22 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.6406,T/0.3594;PC=0.001;Gene=GBP4/NM_052941.4/1;CC=c.1645T>A;ProtCh=p.L549M;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:A,T:52:44:0:0:43,9:1341,276:0.00,21.53:0.00,18.29:0.00,3.24:0.00,0.98:0.00,1.00:0.00,0.97:60,60:8.9,186.9:0,0:0,0:49,108:100,39:32,27:-,NM_052941.4(GBP4) c.1645T>A (p.Leu549Met):-,0.31:-,0.378538 1 89652087 rs1142890 C T 9 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.641,T/0.359;Gene=GBP4/NM_052941.4/1;CC=c.1636G>A;ProtCh=p.E546K;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:51:42:0:0:46,5:1497,138:0.00,9.11:0.00,9.94:0.00,-0.83:0.00,0.72:0.00,0.95:0.00,0.86:60,60:11.8,259.6:0,0:0,0:61,90:84,61:35,27:-,NM_052941.4(GBP4) c.1636G>A (p.Glu546Lys):-,0.28:-,0.105308 1 89652088 rs1142889 C G 11 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.641,G/0.359;PC=0.001;Gene=GBP4/NM_052941.4/1;CC=c.1635G>C;ProtCh=p.M545I;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:C,G:50:41:0:0:45,5:1462,154:0.00,10.74:0.00,11.61:0.00,-0.87:0.00,0.73:0.00,0.95:0.00,0.88:60,60:9.9,259.6:0,0:0,0:52,91:96,60:30,27:-,NM_052941.4(GBP4) c.1635G>C (p.Met545Ile):-,0.28:-,0.105164 1 89652090 rs1142888 T G 9 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.641,G/0.359;PC=0.044;Gene=GBP4/NM_052941.4/1;CC=c.1633A>C;ProtCh=p.M545L;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:49:39:0:0:5,44:136,1328:9.04,0.00:9.93,0.00:-0.89,0.00:0.73,0.00:0.94,0.00:0.88,0.00:60,60:259.6,8.5:0,0:0,0:93,61:58,86:27,34:NM_052941.4(GBP4) c.1633A>C (p.Met545Leu),-:0.28,-:0.119415,- 1 89652094 rs1142887 G A 11 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.641,A/0.359;Gene=GBP4/NM_052941.4/1;CC=c.1629C>T;ProtCh=p.A543=;VC=Silent;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,G:50:38:0:0:5,45:160,1420:11.33,0.00:12.29,0.00:-0.96,0.00:0.73,0.00:0.94,0.00:0.89,0.00:60,60:259.6,9.8:0,0:0,0:97,58:54,90:27,28:NM_052941.4(GBP4) c.1629C>T (p.(=)),-:NOT_FOUND,-:0.228236,- 1 89652097 rs1142886 C T 10 sb VT=SNV;PN=C;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.6404,T/0.3596;Gene=GBP4/NM_052941.4/1;CC=c.1626G>A;ProtCh=p.M542I;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,T:52:39:0:0:46,6:1494,150:0.00,9.88:0.00,9.60:0.00,0.28:0.00,0.84:0.00,0.97:0.00,0.94:60,60:9.6,227.7:0,0:0,0:58,86:91,64:31,41:-,NM_052941.4(GBP4) c.1626G>A (p.Met542Ile):-,0.28:-,0.261572 1 89652102 rs655260 A T 17 sb VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.6404,T/0.3596;PC=0.025;Gene=GBP4/NM_052941.4/1;CC=c.1621T>A;ProtCh=p.Y541N;VC=Missense;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,T:55:41:0:0:47,8:1418,231:0.00,17.07:0.00,17.15:0.00,-0.08:0.00,0.96:0.00,0.99:0.00,0.98:60,60:10.1,181.2:0,0:0,0:64,63:86,87:37,60:-,NM_052941.4(GBP4) c.1621T>A (p.Tyr541Asn):-,0.29:-,0.26088 1 89652210 . C . . NT END=89652682;NT GT ./. 1 89652786 . C . . NT END=89654264;NT GT ./. 1 89654478 . C . . NT END=89655720;NT GT ./. 1 89656002 . C . . NT END=89656943;NT GT ./. 1 89656244 rs607131 C T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1542,T/0.8458;Gene=GBP4/NM_052941.4/1;CC=c.917-243G>A;VC=Intron;DM=GBP4/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,G,T:9:0:0:0:5,1,3:132,11,91:0.00,0.42,8.23:0.00,0.00,0.00:0.00,0.42,8.23:0.00,0.00,0.64:0.00,0.00,0.00:0.00,0.00,0.64:60,60,60:9.0,154.0,30.3:0,0,0:0,0,0:80,138,66:71,12,85:23,0,12:-,NM_052941.4(GBP4) c.917-243G>A:-,0.82:-,NOT_FOUND 1 89657190 . C . . NT END=89658586;NT GT ./. 1 89658784 . C . . NT END=89658985;NT GT ./. 1 89659096 . C . . NT END=89660979;NT GT ./. 1 89661108 . C . . NT END=89662792;NT GT ./. 1 89661228 rs650448 T G 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.375,G/0.625;Gene=GBP4/NM_052941.4/1;CC=c.236-121A>C;VC=Intron;DM=GBP4/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:39:7:0:0:16,23:487,743:44.82,0.00:8.08,0.00:36.74,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:48.4,12.9:0,0:0,0:88,96:60,55:31,33:NM_052941.4(GBP4) c.236-121A>C,-:0.64,-:NOT_FOUND,- 1 89662988 . C . . NT END=89664477;NT GT ./. 1 89664276 rs493470 T C 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2482,C/0.7518;Gene=GBP4/NM_052941.4/1;CC=c.40+202A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:10:10:0:0:6,4:213,102:21.24,0.00:21.24,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:37.5,32.5:0,0:0,0:47,88:103,62:27,3:NM_052941.4(GBP4) c.40+202A>G,-:0.74,-:NOT_FOUND,- 1 89664518 . T . . NT END=89726386;NT GT ./. 1 89726501 . C . . NT END=89727902;NT GT ./. 1 89726592 rs535351 G A 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3213,A/0.6787;Gene=GBP5/NM_001134486.2/0;CC=c.1648-92C>T;VC=Intron;Gene=GBP5/NM_052942.3/1;CC=c.1648-92C>T;VC=Intron;DM=GBP5/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:4:0:0:8,6:253,200:24.96,0.00:6.43,0.00:18.53,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:31.6,0.0:0,0:0,0:142,114:9,36:4,20:NM_052942.3(GBP5) c.1648-92C>T,-:0.67,-:NOT_FOUND,- 1 89728085 . C . . NT END=89728365;NT GT ./. 1 89728469 . C . . NT END=89729418;NT GT ./. 1 89729632 . C . . NT END=89730368;NT GT ./. 1 89730650 . C . . NT END=89732028;NT GT ./. 1 89730723 rs9628688 C T 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.5739,T/0.4261;Gene=GBP5/NM_001134486.2/0;CC=c.869-74G>A;VC=Intron;Gene=GBP5/NM_052942.3/1;CC=c.869-74G>A;VC=Intron;DM=GBP5/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:6:0:0:27,18:729,597:0.00,55.19:0.00,6.61:0.00,48.58:0.00,1.00:0.00,0.94:0.00,1.00:60,60:12.7,40.2:0,0:0,0:108,99:42,51:22,26:-,NM_052942.3(GBP5) c.869-74G>A:-,0.43:-,NOT_FOUND 1 89731959 rs12729209 G A 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5847,A/0.4153;Gene=GBP5/NM_001134486.2/0;CC=c.868+70C>T;VC=Intron;Gene=GBP5/NM_052942.3/1;CC=c.868+70C>T;VC=Intron;DM=GBP5/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:26:0:0:11,15:348,480:32.36,0.00:32.84,0.00:-0.48,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:31.6,0.8:0,0:0,0:50,34:99,113:39,22:NM_052942.3(GBP5) c.868+70C>T,-:0.42,-:NOT_FOUND,- 1 89732272 . C . . NT END=89732639;NT GT ./. 1 89732837 . C . . NT END=89733099;NT GT ./. 1 89733210 . C . . NT END=89734411;NT GT ./. 1 89733273 rs6690597 T C 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.5419,C/0.4581;Gene=GBP5/NM_001134486.2/0;CC=c.319-64A>G;VC=Intron;Gene=GBP5/NM_052942.3/1;CC=c.319-64A>G;VC=Intron;DM=GBP5/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:7:0:0:10,12:344,395:32.59,0.00:2.70,0.00:29.89,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:36.1,5.3:0,0:0,0:115,123:35,21:28,19:NM_052942.3(GBP5) c.319-64A>G,-:0.45,-:NOT_FOUND,- 1 89734274 rs3795542 A C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5747,C/0.4253;Gene=GBP5/NM_001134486.2/0;CC=c.318+138T>G;VC=Intron;Gene=GBP5/NM_052942.3/1;CC=c.318+138T>G;VC=Intron;DM=GBP5/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,C:14:14:0:0:5,9:164,295:0.00,29.83:0.00,29.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.6,34.0:0,0:0,0:94,27:56,122:14,13:-,NM_052942.3(GBP5) c.318+138T>G:-,0.43:-,NOT_FOUND 1 89734540 . C . . NT END=89735048;NT GT ./. 1 89735239 . G . . NT END=89834110;NT GT ./. 1 89755671 rs623771 T A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.361,A/0.639;Gene=LOC729930/NR_077244.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:199:22.76:18.88:3.88:1.00:1.00:1.00:60:33.2:0:0:54:96:21:chr1 g.89755670T>A (intergenic),chr1 g.89755670T>A (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 1 89833933 rs9428023 C T 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.05711,T/0.9429;Gene=GBP6/NM_198460.2/1;CC=c.-23-155C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:12:0:0:12:371:42.79:42.79:0.00:1.00:1.00:0.00:60:44.9:0:0:43:107:22:NM_198460.2(GBP6) c.-23-155C>T,NM_198460.2(GBP6) c.-23-155C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 89834301 . G . . NT END=89835104;NT GT ./. 1 89835233 . G . . NT END=89843661;NT GT ./. 1 89843772 . G . . NT END=89843975;NT GT ./. 1 89844173 . G . . NT END=89845944;NT GT ./. 1 89845926 rs67367078 GT G 220 rn VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=GT/0.1388,G/0.8612;DB;DBA=NA;PAF=GT/0.1388,G/0.8612;DB;DBA=NA;PAF=GT/0.1388,G/0.8612;NP=3164;PC=0.003;Gene=GBP6/NM_198460.2/1;CC=c.626-10delT;VC=Intron;DM=GBP6/GBP;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:G:61:55:0:61:61:1909:219.96:168.27:51.69:1.00:1.00:1.00:70:15.1:0:0:48:93:27:NM_198460.2(GBP6) c.626-18delT,NM_198460.2(GBP6) c.626-18delT:NOT_FOUND,NOT_FOUND:0.898114,0.898114 1 89846191 . G . . NT END=89847252;NT GT ./. 1 89847153 rs1001847 G A 116 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8468,A/0.1532;Gene=GBP6/NM_198460.2/1;CC=c.872-100G>A;VC=Intron;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A,C:33:33:0:0:32,1:1009,11:115.67,0.30:106.26,0.30:9.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,107.0:0,0:0,0:47,63:104,88:30,0:NM_198460.2(GBP6) c.872-100G>A,NM_198460.2(GBP6) c.872-100G>A:0.15,0.15:NOT_FOUND,NOT_FOUND 1 89847372 rs4658359 G T 497 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=G/0.1941,T/0.8059;PC=0.002;Gene=GBP6/NM_198460.2/1;CC=c.991G>T;ProtCh=p.A331S;VC=Missense;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:135:97:0:0:135:4323:496.55:269.93:226.62:1.00:1.00:1.00:60:78.4:0:0:63:78:30:NM_198460.2(GBP6) c.991G>T (p.Ala331Ser),NM_198460.2(GBP6) c.991G>T (p.Ala331Ser):0.79,0.79:0.791096,0.791096 1 89847411 rs4658360 C T 465 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.1941,T/0.8059;Gene=GBP6/NM_198460.2/1;CC=c.1030C>T;ProtCh=p.L344F;VC=Missense;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:129:90:0:0:129:4035:464.90:235.73:229.18:1.00:1.00:1.00:60:84.8:0:0:75:74:33:NM_198460.2(GBP6) c.1030C>T (p.Leu344Phe),NM_198460.2(GBP6) c.1030C>T (p.Leu344Phe):0.79,0.79:0.791096,0.791096 1 89847444 rs4658146 A G 427 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.1935,G/0.8065;Gene=GBP6/NM_198460.2/1;CC=c.1063A>G;ProtCh=p.M355V;VC=Missense;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:119:75:0:0:119:3703:426.59:188.81:237.77:1.00:1.00:1.00:60:81.5:0:0:81:67:35:NM_198460.2(GBP6) c.1063A>G (p.Met355Val),NM_198460.2(GBP6) c.1063A>G (p.Met355Val):0.79,0.79:0.791096,0.791096 1 89847534 . G . . NT END=89848222;NT GT ./. 1 89848436 . G . . NT END=89849210;NT GT ./. 1 89848557 rs10733091 A C 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1937,C/0.8063;Gene=GBP6/NM_198460.2/1;CC=c.1365+122A>C;VC=Intron;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:0:0:0:16:544:62.03:0.00:62.03:1.00:0.00:1.00:60:38.1:0:0:111:40:21:NM_198460.2(GBP6) c.1365+122A>C,NM_198460.2(GBP6) c.1365+122A>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 89849201 rs928652 C G 133 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.1394,G/0.8606;PC=0.147;Gene=GBP6/NM_198460.2/1;CC=c.1366-10C>G;VC=Intron;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:29:0:0:34:1166:132.79:86.56:46.24:1.00:1.00:1.00:60:39.1:0:0:41:103:28:NM_198460.2(GBP6) c.1366-10C>G,NM_198460.2(GBP6) c.1366-10C>G:0.86,0.86:0.897355,0.897355 1 89849314 . G . . NT END=89849651;NT GT ./. 1 89849350 rs928653 G A 100 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.1394,A/0.8606;Gene=GBP6/NM_198460.2/1;CC=c.1468+37G>A;VC=Intron;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:9:0:0:28:867:99.91:22.51:77.39:1.00:1.00:1.00:60:40.5:0:0:123:27:10:NM_198460.2(GBP6) c.1468+37G>A,NM_198460.2(GBP6) c.1468+37G>A:0.86,0.86:0.897355,0.897355 1 89849441 rs928654 T G 59 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.1394,G/0.8606;Gene=GBP6/NM_198460.2/1;CC=c.1468+128T>G;VC=Intron;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:7:0:0:16:512:58.82:25.03:33.79:1.00:1.00:1.00:60:52.0:0:0:45:105:33:NM_198460.2(GBP6) c.1468+128T>G,NM_198460.2(GBP6) c.1468+128T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89849574 rs928655 G A 175 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.4517,A/0.5483;Gene=GBP6/NM_198460.2/1;CC=c.1469-78G>A;VC=Intron;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:A:48:44:0:0:48:1520:174.82:152.55:22.26:1.00:1.00:1.00:60:41.0:0:0:54:96:34:NM_198460.2(GBP6) c.1469-78G>A,NM_198460.2(GBP6) c.1469-78G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 89849742 rs959460 A T 405 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.1394,T/0.8606;PC=0.128;Gene=GBP6/NM_198460.2/1;CC=c.1559A>T;ProtCh=p.D520V;VC=Missense;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:113:80:0:0:1,112:27,3520:1.16,404.79:1.16,211.56:0.00,193.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.0,36.8:0,0:0,0:91,62:60,88:0,36:NM_198460.2(GBP6) c.1559A>T (p.Asp520Val),NM_198460.2(GBP6) c.1559A>T (p.Asp520Val):0.86,0.86:0.897355,0.897355 1 89849846 . G . . NT END=89850788;NT GT ./. 1 89850115 rs6662763 T A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4517,A/0.5483;PC=0.034;Gene=GBP6/NM_198460.2/1;CC=c.1662+270T>A;VC=Intron;DM=GBP6/GBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:154:17.78:0.00:17.78:1.00:0.00:1.00:60:61.8:0:0:126:18:14:NM_198460.2(GBP6) c.1662+270T>A,NM_198460.2(GBP6) c.1662+270T>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 89851029 . G . . NT END=90048209;NT GT ./. 1 89851100 rs386367606 G GT 44 idl,rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.38,GT/0.62,GTT/.;DB;DBA=NA;PAF=G/0.38,GT/0.62;DB;DBA=NA;PAF=G/0.38,GT/0.62;DB;DBA=NA;PAF=G/0.38,GT/0.62;NP=330;Gene=GBP6/NM_198460.2/1;CC=c.*86_*87insT;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:36:12:22:0:20,16:627,641:0.00,43.87:0.00,2.90:0.00,40.97:0.00,1.00:0.00,0.99:0.00,1.00:60,70:6.5,24.9:0,6:0,0:137,78:12,72:6,31:-,NM_198460.2(GBP6) c.*86dupT:-,NOT_FOUND:-,NOT_FOUND 1 89875791 rs4233427 T C 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1374,C/0.8626;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:203:23.16:23.16:0.00:1.00:1.00:0.00:60:46.7:0:0:53:97:41:NR_003133.2(GBP1P1) n.81-68T>C,NR_003133.2(GBP1P1) n.81-68T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89885558 rs10737704 G A 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1214,A/0.8786;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:298:34.09:34.09:0.00:1.00:1.00:0.00:60:47.6:0:0:46:105:25:NR_003133.2(GBP1P1) n.290-192G>A,NR_003133.2(GBP1P1) n.290-192G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 89885854 rs6673154 G A 170 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.1374,A/0.8626;PC=1.000;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:21:0:0:46:1485:170.40:58.57:111.83:1.00:1.00:1.00:60:40.0:0:0:91:58:24:NR_003133.2(GBP1P1) n.394G>A,NR_003133.2(GBP1P1) n.394G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 89886714 rs6428538 A G 160 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.1374,G/0.8626;PC=1.000;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:24:0:0:42:1400:160.03:66.76:93.27:1.00:1.00:1.00:60:49.4:0:0:94:46:35:NR_003133.2(GBP1P1) n.492A>G,NR_003133.2(GBP1P1) n.492A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89886796 rs6428539 G A 96 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.1374,A/0.8626;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:9:0:0:26:837:96.02:26.14:69.89:1.00:1.00:1.00:60:63.4:0:0:90:41:24:NR_003133.2(GBP1P1) n.557+17G>A,NR_003133.2(GBP1P1) n.557+17G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89887094 rs6665989 A C 99 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.1374,C/0.8626;PC=1.000;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:11:0:0:27:861:98.81:35.79:63.02:1.00:1.00:1.00:60:41.9:0:0:90:61:32:NR_003133.2(GBP1P1) n.557+315A>C,NR_003133.2(GBP1P1) n.557+315A>C:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89887212 rs6668671 T G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1374,G/0.8626;PC=0.027;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:229:26.68:0.00:26.68:1.00:0.00:1.00:60:39.2:0:0:56:95:38:NR_003133.2(GBP1P1) n.557+433T>G,NR_003133.2(GBP1P1) n.557+433T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89887468 rs67428662 TG T 39 idl,nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=TG/0.1376,T/0.8624;NP=15;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:20:24:0:16:8,12:236,527:0.00,39.01:0.00,39.01:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:88.4,50.7:0,4:0,0:79,58:60,92:45,14:-,NR_003133.2(GBP1P1) n.557+690delG:-,NOT_FOUND:-,NOT_FOUND 1 89887469 rs12568474 G A 26 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=263;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:17:8:226:26.40:26.40:0.00:1.00:1.00:0.00:60:88.4:0:0:80:59:45:NR_003133.2(GBP1P1) n.557+690G>A,NR_003133.2(GBP1P1) n.557+690G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 89887499 . G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;NP=3;PC=0.086;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,G,T:38:35:0:0:9,28,1:118,778,8:7.21,0.00,-0.18:7.68,0.00,-0.13:-0.47,0.00,-0.05:0.99,0.00,0.00:1.00,0.00,0.00:0.73,0.00,0.00:60,60,60:83.8,22.4,48.0:0,0,0:0,0,0:87,13,99:62,135,31:31,9,0:NR_003133.2(GBP1P1) n.557+720G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 89888151 rs4421571 C T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1374,T/0.8626;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:135:15.41:11.63:3.78:1.00:1.00:1.00:60:37.2:0:0:58:93:14:NR_003133.2(GBP1P1) n.557+1372C>T,NR_003133.2(GBP1P1) n.557+1372C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89888371 rs6428540 A G 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.1378,G/0.8622;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:26:0:0:28:798:93.09:84.30:8.79:1.00:1.00:1.00:60:34.3:0:0:55:95:45:NR_003133.2(GBP1P1) n.558-1446A>G,NR_003133.2(GBP1P1) n.558-1446A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 89888530 rs4261099 C T 209 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.1376,T/0.8624;PC=0.002;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:33:0:0:56:1827:209.35:84.93:124.42:1.00:1.00:1.00:60:86.4:0:0:89:54:36:NR_003133.2(GBP1P1) n.558-1287C>T,NR_003133.2(GBP1P1) n.558-1287C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 89888552 rs4282800 T A 175 nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.138,A/0.862;PC=0.475;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A:48:26:0:0:48:1518:174.64:75.25:99.39:1.00:1.00:1.00:60:97.7:0:0:100:47:27:NR_003133.2(GBP1P1) n.558-1265T>A,NR_003133.2(GBP1P1) n.558-1265T>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 89888585 rs4415545 C G 154 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.1374,G/0.8626;NP=2568;PC=0.001;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:G:43:24:0:0:43:1337:154.18:72.15:82.03:1.00:1.00:1.00:60:111.9:0:0:90:61:34:NR_003133.2(GBP1P1) n.558-1232C>G,NR_003133.2(GBP1P1) n.558-1232C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 89888588 rs4506445 G T 149 nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.1374,T/0.8626;PC=0.982;Gene=GBP1P1/NR_003133.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:T:42:24:0:0:42:1293:149.22:71.10:78.13:1.00:1.00:1.00:60:112.1:0:0:85:65:39:NR_003133.2(GBP1P1) n.558-1229G>T,NR_003133.2(GBP1P1) n.558-1229G>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 89968370 rs61799527 A C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3297,C/0.6703;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:161:18.48:9.49:8.99:1.00:1.00:1.00:60:35.8:0:0:52:95:4:chr1 g.89968369A>C (intergenic),chr1 g.89968369A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 90048132 rs2279085 T C 121 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.8325,C/0.1675;Gene=LRRC8B/NM_001134476.1/1;CC=c.-26-52T>C;VC=Intron;Gene=LRRC8B/NM_015350.2/0;CC=c.-26-52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:A,C:34:32:0:0:1,33:10,1057:0.24,121.00:0.24,109.64:0.00,11.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:165.0,36.0:0,0:0,0:118,34:21,117:0,26:NM_015350.2(LRRC8B) c.-26-52T>C,NM_015350.2(LRRC8B) c.-26-52T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 1 90049040 rs36084789 A G 445 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.8385,G/0.1615;Gene=LRRC8B/NM_001134476.1/1;CC=c.831A>G;ProtCh=p.P277=;VC=Silent;Gene=LRRC8B/NM_015350.2/0;CC=c.831A>G;ProtCh=p.P277=;VC=Silent;DM=LRRC8B/Pannexin_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:123:77:0:0:123:3872:445.31:206.23:239.09:1.00:1.00:1.00:60:43.4:0:0:67:80:31:NM_015350.2(LRRC8B) c.831A>G (p.(=)),NM_015350.2(LRRC8B) c.831A>G (p.(=)):0.17,0.17:0.197678,0.197678 1 90050349 . G . . NT END=90058329;NT GT ./. 1 90058242 rs397739000 G GT 50 sb;idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5335,GT/0.4665;DB;DBA=NA;PAF=G/0.5335,GT/0.4665;NP=325;Gene=LRRC8B/NM_001134476.1/1;CC=c.2140-75dupT;VC=Intron;Gene=LRRC8B/NM_015350.2/0;CC=c.2140-75dupT;VC=Intron;DM=LRRC8B/LRR_8;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:G,GT:21:25:19:0:6,15:156,595:0.00,49.55:0.00,48.17:0.00,1.38:0.00,1.00:0.00,1.00:0.00,0.94:60,60:42.5,56.9:1,4:0,0:106,40:37,95:23,29:-,NM_015350.2(LRRC8B) c.2140-88_2140-87insT:-,NOT_FOUND:-,NOT_FOUND 1 90058603 . C . . NT END=90152032;NT GT ./. 1 90088710 rs72299874 GAC G 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=116;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GAC,G:4:4:0:2:2,2:70,66:0.00,6.35:0.00,3.02:0.00,3.33:0.00,0.94:0.00,0.94:0.00,0.89:60,60:15.0,0.0:0,0:0,0:81,48:69,73:54,39:-,chr1 g.90088711_90088712delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 90152171 . G . . NT END=90178267;NT GT ./. 1 90178045 rs3112507 A C 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.01218,C/0.9878;NP=304;Gene=LRRC8C/NM_032270.4/1;CC=c.139-223A>C;VC=Intron;DM=LRRC8C/Pannexin_like;DM=LRRC8C/Pannexin_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:274:31.67:31.67:0.00:1.00:1.00:0.00:60:46.1:0:0:44:107:13:NM_032270.4(LRRC8C) c.139-223A>C,NM_032270.4(LRRC8C) c.139-223A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 90178743 rs474536 A G 355 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.01398,G/0.986;PC=1.000;Gene=LRRC8C/NM_032270.4/1;CC=c.614A>G;ProtCh=p.D205G;VC=Missense;DM=LRRC8C/Pannexin_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:95:57:0:0:95:3094:354.54:170.48:184.06:1.00:1.00:1.00:60:41.7:0:0:76:75:34:NM_032270.4(LRRC8C) c.=,NM_032270.4(LRRC8C) c.=:0.99,0.99:0.984161,0.984161 1 90179529 rs139178832 A T 146 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=4;PC=1.000;Gene=LRRC8C/NM_032270.4/1;CC=c.1400A>T;ProtCh=p.D467V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:93:61:0:0:45,48:1446,1515:0.00,146.41:0.00,79.94:0.00,66.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.4,40.6:0,0:0,0:61,64:81,86:30,29:-,NM_032270.4(LRRC8C) c.1400A>T (p.Asp467Val):-,NOT_FOUND:-,0.000846 1 90179532 rs12032393 A G 143 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.8494,G/0.1506;PC=0.997;Gene=LRRC8C/NM_032270.4/1;CC=c.1403A>G;ProtCh=p.N468S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:59:0:0:46,45:1434,1494:0.00,143.44:0.00,69.62:0.00,73.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.7,41.7:0,0:0,0:70,64:79,78:29,30:-,NM_032270.4(LRRC8C) c.1403A>G (p.Asn468Ser):-,0.16:-,0.110564 1 90180542 . C . . NT END=90398627;NT GT ./. 1 90401205 . A . . NT END=90460816;NT GT ./. 1 90459744 rs2703984 A G 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.03994,G/0.9601;PC=0.986;Gene=GEMIN8P4/NR_002830.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G,T:14:11:0:0:13,1:425,11:48.28,0.53:26.53,0.53:21.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,31.0:0,0:0,0:67,92:84,59:34,0:NR_002830.1(GEMIN8P4) n.=,NR_002830.1(GEMIN8P4) n.=:0.97,0.97:NOT_FOUND,NOT_FOUND 1 90459982 rs7556257 G A 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.07608,A/0.9239;PC=0.024;Gene=GEMIN8P4/NR_002830.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:228:27.02:0.00:27.02:1.00:0.00:1.00:60:53.8:0:0:93:57:31:NR_002830.1(GEMIN8P4) n.=,NR_002830.1(GEMIN8P4) n.=:0.94,0.94:NOT_FOUND,NOT_FOUND 1 90460833 . G . . NT END=90463668;NT GT ./. 1 90463714 . G . . NT END=90470561;NT GT ./. 1 90470652 . G . . NT END=90470691;NT GT ./. 1 90470915 rs11808927 T A 307 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.3618,A/0.6382;PC=0.226;Gene=ZNF326/NM_182975.2/0;CC=c.*108T>A;VC=3UTR;Gene=ZNF326/NM_182976.2/1;CC=c.209+112T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:86:48:0:0:86:2661:306.63:133.01:173.62:1.00:1.00:1.00:60:43.6:0:0:82:65:38:NM_182976.2(ZNF326) c.209+112T>A,NM_182976.2(ZNF326) c.209+112T>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 90472001 . T . . NT END=90472903;NT GT ./. 1 90473310 . G . . NT END=90475646;NT GT ./. 1 90475846 . G . . NT END=90478684;NT GT ./. 1 90475947 rs12086543 A G 90 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.148,G/0.852;Gene=ZNF326/NM_182976.2/1;CC=c.814+102A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:0:0:0:25:783:90.13:0.00:90.13:1.00:0.00:1.00:60:42.4:0:0:95:55:34:NM_182976.2(ZNF326) c.814+102A>G,NM_182976.2(ZNF326) c.814+102A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 90478797 . G . . NT END=90482875;NT GT ./. 1 90483024 . G . . NT END=90484243;NT GT ./. 1 90484344 . G . . NT END=90486350;NT GT ./. 1 90486412 rs2816881 T G 202 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.3069,G/0.6931;PC=0.884;Gene=ZNF326/NM_182976.2/1;CC=c.1236T>G;ProtCh=p.V412=;VC=Silent;DM=ZNF326/AKAP95 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:138:G,T:53:34:0:0:52,1:1792,11:202.24,0.00:106.50,0.00:95.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,80.0:0,0:0,0:76,131:74,20:34,0:NM_182976.2(ZNF326) c.1236T>G (p.(=)),NM_182976.2(ZNF326) c.1236T>G (p.(=)):0.71,0.71:0.593188,0.593188 1 90486482 . G . . NT END=90487808;NT GT ./. 1 90487905 . G . . NT END=90492912;NT GT ./. 1 90492624 rs59960066 A ATG 15 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5477,ATG/0.4091,ATGTG/0.04313;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5477,ATG/0.4091;NP=1;NP=50;Gene=ZNF326/NM_182976.2/1;CC=c.1402-266_1402-265insGT;VC=Intron;DM=ZNF326/AKAP95;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:ATG:4:5:5:0:4:164:14.52:12.73:1.79:0.96:0.96:0.87:60:0.0:1:0:46:104:36:NM_182976.2(ZNF326) c.1402-289_1402-288insTG,NM_182976.2(ZNF326) c.1402-289_1402-288insTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 90493026 rs10922744 G A 449 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.368,A/0.632;PC=0.032;Gene=ZNF326/NM_182976.2/1;CC=c.1515G>A;ProtCh=p.E505=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:119:94:0:0:119:3922:448.90:290.85:158.05:1.00:1.00:1.00:60:38.5:0:0:56:88:30:NM_182976.2(ZNF326) c.1515G>A (p.(=)),NM_182976.2(ZNF326) c.1515G>A (p.(=)):0.66,0.66:0.535676,0.535676 1 90493261 . A . . NT END=91177868;NT GT ./. 1 90624962 rs4573499 C T 15 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.02356,T/0.9764;NP=1;NP=75 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:1:4:131:15.01:1.99:13.02:1.00:1.00:1.00:60:59.0:0:0:117:27:25:chr1 g.90624961C>T (intergenic),chr1 g.90624961C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 90731935 rs68162752 CGT C,CGTGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=39;PC=0.289 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:22:CGT,CGTGTGT,C:4:3:2:1:1,2,1:11,67,34:0.00,6.76,3.15:0.00,5.12,-0.06:0.00,1.64,3.22:0.00,0.94,0.00:0.00,0.89,0.00:0.00,0.89,0.00:60,60,60:43.0,0.0,0.0:0,0,0:0,0,0:129,43,45:22,99,106:0,23,0:chr1 g.90731936_90731937delGT (intergenic),chr1 g.90731936GT[3] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 90854821 . CACAGAG C 10 nt VT=DEL;SST=Single;DP=4;NP=13;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CACAGAG,C:4:4:0:3:1,3:36,99:0.00,10.35:0.00,6.90:0.00,3.45:0.00,0.85:0.00,0.85:0.00,0.99:60,70:36.0,25.3:0,0:0,0:30,58:94,93:0,26:-,chr1 g.90854822_90854827delACAGAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 90907842 rs12126859 G T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8219,T/0.1781;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:G,T:4:4:0:0:1,3:22,89:0.00,9.35:0.00,7.48:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:12.0,33.7:0,0:0,0:88,36:63,90:0,14:-,chr1 g.90907841G>T (intergenic):-,0.16:-,NOT_FOUND 1 90922361 rs5776052 T TAC 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7085,TAC/0.2915;DB;DBA=NA;PAF=T/0.7085,TAC/0.2915,TACACACAC/.;NP=1;NP=17;NP=2;NP=98;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:T,TAC:5:2:4:0:1,4:30,129:0.00,13.72:0.00,7.16:0.00,6.56:0.00,0.96:0.00,0.97:0.00,0.99:60,60:11.0,5.0:0,0:0,0:39,67:112,69:0,14:-,chr1 g.90922361_90922362insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 91177647 rs2390606 A C 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5218,C/0.4782;PC=0.852;Gene=BARHL2/NM_020063.1/1;CC=c.*222T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:181:20.96:20.96:0.00:1.00:1.00:0.00:60:36.2:0:0:25:124:24:NM_020063.1(BARHL2) c.*222T>G,NM_020063.1(BARHL2) c.*222T>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 91178182 . C . . NT END=91180087;NT GT ./. 1 91180314 . C . . NT END=91182127;NT GT ./. 1 91182753 . T . . NT END=91382354;NT GT ./. 1 91182860 . TA T 20 idl,rn VT=DEL;SST=Single;DP=69;NP=6;PC=0.270;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,TA,I,T:67:27:6:11:1,51,6,9:12,1532,187,332:-0.10,0.00,13.20,19.88:-0.09,0.00,2.22,2.08:-0.01,0.00,10.97,17.79:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.93:0.00,0.00,0.00,1.00:60,60,60,60:182.0,17.1,11.3,16.3:0,0,0,2:0,0,0,0:87,104,91,83:58,42,43,68:0,24,24,41:-,NM_020063.1(BARHL2) c.-42-u67delT:-,NOT_FOUND:-,NOT_FOUND 1 91289615 rs145587232 AACAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AACAC,A:3:3:0:3:1,2:33,99:0.00,6.65:0.00,5.01:0.00,1.64:0.00,0.94:0.00,0.89:0.00,0.89:60,60:0.0,10.5:0,1:0,0:111,80:39,71:0,5:-,chr1 g.91289616_91289619delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 91359217 rs1188913 A G 267 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.003594,G/0.9964 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:77:24:0:0:77:2309:267.42:52.16:215.27:1.00:1.00:1.00:60:35.4:0:0:112:37:26:chr1 g.91359216A>G (intergenic),chr1 g.91359216A>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 91382548 . C . . NT END=91383608;NT GT ./. 1 91383712 . C . . NT END=91400964;NT GT ./. 1 91401088 . C . . NT END=91403041;NT GT ./. 1 91402917 rs76869597 T TA 8 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=281;PC=0.433;Gene=ZNF644/NM_016620.3/0;CC=c.23-19207dupT;VC=Intron;Gene=ZNF644/NM_032186.4/0;CC=c.23-19207dupT;VC=Intron;Gene=ZNF644/NM_201269.2/1;CC=c.3688+124dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:T,TA,D:22:22:3:2:17,3,2:508,100,62:0.00,7.76,4.37:0.00,7.76,4.37:0.00,0.00,0.00:0.00,0.48,0.00:0.00,0.48,0.00:0.00,0.00,0.00:60,60,60:9.3,0.0,0.0:0,0,0:0,0,0:49,41,9:100,110,142:27,13,5:-,NM_201269.2(ZNF644) c.3688+124_3688+125insT:-,NOT_FOUND:-,NOT_FOUND 1 91403648 . C . . NT END=91403828;NT GT ./. 1 91406867 . C . . NT END=91447866;NT GT ./. 1 91447669 rs358690 G A 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7163,A/0.2837;PC=0.004;Gene=ZNF644/NM_016620.3/0;CC=c.22+198C>T;VC=Intron;Gene=ZNF644/NM_032186.4/0;CC=c.22+198C>T;VC=Intron;Gene=ZNF644/NM_201269.2/1;CC=c.44+198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:11:11:0:0:8,3:254,103:26.42,0.00:26.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.5,11.3:0,0:0,0:19,74:131,77:3,32:NM_201269.2(ZNF644) c.44+198C>T,-:0.3,-:NOT_FOUND,- 1 91447911 . C . . NT END=91726845;NT GT ./. 1 91447985 rs358691 C T 51 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.04553,T/0.9545;PC=0.001;Gene=ZNF644/NM_016620.3/0;CC=c.-39-58G>A;VC=Intron;Gene=ZNF644/NM_032186.4/0;CC=c.-39-58G>A;VC=Intron;Gene=ZNF644/NM_201269.2/1;CC=c.-17-58G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:7:0:0:13,17:416,522:0.00,51.40:0.00,9.66:0.00,41.74:0.00,1.00:0.00,0.99:0.00,1.00:60,60:15.5,35.6:0,0:0,0:90,120:59,30:37,28:-,NM_201269.2(ZNF644) c.-17-58G>A:-,0.94:-,0.925154 1 91536977 rs61412048 T TACACACAC 13 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6168,TACAC/.,TACACAC/.,TACACACAC/.,TACACACACAC/0.3832;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=13;NP=34;PC=0.002;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:T,TACACACAC:6:5:4:0:2,4:64,129:0.00,13.15:0.00,4.69:0.00,8.46:0.00,0.93:0.00,0.99:0.00,0.99:60,60:0.0,10.8:0,0:0,0:102,49:34,87:3,18:-,chr1 g.91536977_91536978insACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 91726917 . C . . NT END=91727797;NT GT ./. 1 91727950 . C . . NT END=91728037;NT GT ./. 1 91728053 rs585898 G A 166 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.0007987,A/0.9992,T/.;NP=3468;PC=1.000;Gene=HFM1/NM_001017975.4/1;CC=c.4071C>T;ProtCh=p.A1357=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:111:A,T:45:21:0:0:44,1:1452,13:165.69,0.35:53.60,0.35:112.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,13.0:0,0:0,0:59,129:91,22:39,0:NM_001017975.3(HFM1) c.4071C>T (p.(=)),NM_001017975.3(HFM1) c.4071C>T (p.(=)):1,1:0.999,0.999 1 91728150 . C . . NT END=91731573;NT GT ./. 1 91728202 rs555432 T C 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;NP=3025;PC=0.016;Gene=HFM1/NM_001017975.4/1;CC=c.3975-53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:4:0:0:16:513:58.87:10.07:48.80:1.00:1.00:1.00:60:43.6:0:0:76:73:28:NM_001017975.3(HFM1) c.3975-53A>G,NM_001017975.3(HFM1) c.3975-53A>G:1,1:NOT_FOUND,NOT_FOUND 1 91731426 rs1822056 T G 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4611,G/0.5389;PC=0.001;Gene=HFM1/NM_001017975.4/1;CC=c.3974+148A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:19:0:0:9,11:318,354:30.12,0.00:26.78,0.00:3.34,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:38.6,3.8:0,0:0,0:78,57:73,94:22,30:NM_001017975.3(HFM1) c.3974+148A>C,-:0.54,-:NOT_FOUND,- 1 91731665 . C . . NT END=91733301;NT GT ./. 1 91733413 . C . . NT END=91739268;NT GT ./. 1 91739208 rs281964 C T 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.0007987,T/0.9992;NP=3335;PC=0.168;Gene=HFM1/NM_001017975.4/1;CC=c.3772+61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:T:7:6:0:0:7:198:23.06:19.09:3.98:1.00:1.00:1.00:60:34.0:0:0:56:95:28:NM_001017975.3(HFM1) c.3772+61G>A,NM_001017975.3(HFM1) c.3772+61G>A:1,1:NOT_FOUND,NOT_FOUND 1 91739373 . C . . NT END=91740286;NT GT ./. 1 91739414 rs281963 G A 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.0007987,A/0.9992;NP=3375;PC=0.367;Gene=HFM1/NM_001017975.4/1;CC=c.3669-42C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:5:0:0:11:344:39.59:11.63:27.96:1.00:1.00:1.00:60:33.9:0:0:127:24:12:NM_001017975.3(HFM1) c.3669-42C>T,NM_001017975.3(HFM1) c.3669-42C>T:1,1:0.998996,0.998996 1 91740105 rs176019 T G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.0007987,G/0.9992;NP=1254;PC=0.514;Gene=HFM1/NM_001017975.4/1;CC=c.3668+182A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:132:15.57:15.57:0.00:1.00:1.00:0.00:60:28.8:0:0:100:51:28:NM_001017975.3(HFM1) c.3668+182A>C,NM_001017975.3(HFM1) c.3668+182A>C:1,1:NOT_FOUND,NOT_FOUND 1 91740367 . C . . NT END=91742184;NT GT ./. 1 91742301 . C . . NT END=91742538;NT GT ./. 1 91742620 . C . . NT END=91778905;NT GT ./. 1 91779053 . C . . NT END=91779513;NT GT ./. 1 91779203 rs204304 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4764,C/0.5236;Gene=HFM1/NM_001017975.4/1;CC=c.3245-151A>G;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:C,G,T:13:2:0:0:5,1,7:135,11,240:12.32,0.31,0.00:0.93,-0.03,0.00:11.38,0.35,0.00:0.91,0.00,0.00:0.68,0.00,0.00:0.99,0.00,0.00:60,60,60:51.4,89.0,12.0:0,0,0:0,0,0:67,66,99:81,82,52:22,0,4:NM_001017975.3(HFM1) c.3245-151A>G,-:0.51,-:NOT_FOUND,- 1 91779266 rs281987 C T 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.0007987,T/0.9992;NP=499;PC=0.114;Gene=HFM1/NM_001017975.4/1;CC=c.3245-214G>A;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:3:0:0:9:246:28.79:8.57:20.22:1.00:1.00:1.00:60:50.9:0:0:103:48:27:NM_001017975.3(HFM1) c.3245-214G>A,NM_001017975.3(HFM1) c.3245-214G>A:1,1:NOT_FOUND,NOT_FOUND 1 91779618 . C . . NT END=91781371;NT GT ./. 1 91781304 rs281991 T C 59 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;NP=2733;Gene=HFM1/NM_001017975.4/1;CC=c.3140+68A>G;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:16:0:0:16:514:59.00:52.99:6.02:1.00:1.00:1.00:60:53.8:0:0:70:80:37:NM_001017975.3(HFM1) c.3140+68A>G,NM_001017975.3(HFM1) c.3140+68A>G:1,1:NOT_FOUND,NOT_FOUND 1 91781413 rs281992 T G 115 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.237,A/.,G/0.763;PC=1.000;Gene=HFM1/NM_001017975.4/1;CC=c.3099A>C;ProtCh=p.I1033=;VC=Silent;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:25:0:0:32:998:114.97:71.14:43.83:1.00:1.00:1.00:60:45.2:0:0:69:71:29:NM_001017975.3(HFM1) c.3099A>C (p.(=)),NM_001017975.3(HFM1) c.3099A>C (p.(=)):0.75,0.75:0.688106,0.688106 1 91781530 . C . . NT END=91781657;NT GT ./. 1 91781742 . C . . NT END=91781947;NT GT ./. 1 91782034 . C . . NT END=91784634;NT GT ./. 1 91784767 . C . . NT END=91784849;NT GT ./. 1 91784948 . C . . NT END=91788506;NT GT ./. 1 91788555 . C . . NT END=91788649;NT GT ./. 1 91788757 . C . . NT END=91790231;NT GT ./. 1 91790324 . C . . NT END=91808986;NT GT ./. 1 91793877 rs281972 T C 118 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;NP=3352;Gene=HFM1/NM_001017975.4/1;CC=c.2336-3554A>G;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:30:0:0:31:1028:117.56:96.28:21.27:1.00:1.00:1.00:60:48.5:0:0:59:90:29:NM_001017975.3(HFM1) c.2336-3554A>G,NM_001017975.3(HFM1) c.2336-3554A>G:1,1:NOT_FOUND,NOT_FOUND 1 91794091 rs7541566 G C 140 nt VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.6617,C/0.3383;PC=0.847;Gene=HFM1/NM_001017975.4/1;CC=c.2336-3768C>G;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:93:63:0:0:45,48:1467,1604:140.15,0.00:58.32,0.00:81.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,2.0:0,0:0,0:77,71:59,73:41,34:NM_001017975.3(HFM1) c.2336-3768C>G,-:0.32,-:NOT_FOUND,- 1 91794248 rs281973 G A 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.5601,A/0.4399;PC=0.997;Gene=HFM1/NM_001017975.4/1;CC=c.2336-3925C>T;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:69:0:0:39,51:1336,1601:125.48,0.00:82.55,0.00:42.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,4.7:0,0:0,0:44,59:107,92:32,31:NM_001017975.3(HFM1) c.2336-3925C>T,-:0.42,-:NOT_FOUND,- 1 91794494 rs3893101 G A 140 nt VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.6671,A/0.3329;PC=1.000;Gene=HFM1/NM_001017975.4/1;CC=c.2336-4171C>T;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:90:58:0:0:43,1,46:1464,6,1376:140.15,-0.18,0.00:74.53,-0.11,0.00:65.62,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.0,35.0,10.0:0,0,0:0,0,0:63,33,75:88,118,76:35,0,41:NM_001017975.3(HFM1) c.2336-4171C>T,-:0.31,-:NOT_FOUND,- 1 91794744 rs1974253 C T 111 nt VT=SNV;PN=G;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.7867,T/0.2133;PC=1.000;Gene=HFM1/NM_001017975.4/1;CC=c.2336-4421G>A;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:88:66:0:0:1,48,39:11,1619,1181:-0.09,0.00,110.63:-0.02,0.00,63.09:-0.07,0.00,47.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:30.0,3.1,41.0:0,0,0:0,0,0:7,77,70:142,73,79:0,37,29:-,NM_001017975.3(HFM1) c.2336-4421G>A:-,0.21:-,NOT_FOUND 1 91795331 rs281974 A G 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.0007987,G/0.9992;PC=0.030;Gene=HFM1/NM_001017975.4/1;CC=c.2336-5008T>C;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:151:17.88:0.00:17.88:1.00:0.00:1.00:58:48.0:0:0:134:15:11:NM_001017975.3(HFM1) c.2336-5008T>C,NM_001017975.3(HFM1) c.2336-5008T>C:1,1:NOT_FOUND,NOT_FOUND 1 91809068 . C . . NT END=91812985;NT GT ./. 1 91813034 . C . . NT END=91816294;NT GT ./. 1 91813184 rs281936 C T 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.0007987,T/0.9992;Gene=HFM1/NM_001017975.4/1;CC=c.2207-151G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:406:46.75:0.00:46.75:1.00:0.00:1.00:60:39.1:0:0:90:61:25:NM_001017975.3(HFM1) c.2207-151G>A,NM_001017975.3(HFM1) c.2207-151G>A:1,1:NOT_FOUND,NOT_FOUND 1 91816429 . C . . NT END=91817105;NT GT ./. 1 91817201 . C . . NT END=91818062;NT GT ./. 1 91818209 . C . . NT END=91818607;NT GT ./. 1 91818710 . C . . NT END=91818812;NT GT ./. 1 91818857 . C . . NT END=91840914;NT GT ./. 1 91840784 rs282037 T C 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;Gene=HFM1/NM_001017975.4/1;CC=c.1685+131A>G;VC=Intron;DM=HFM1/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:234:26.74:26.74:0.00:1.00:1.00:0.00:60:38.0:0:0:53:98:34:NM_001017975.3(HFM1) c.1685+131A>G,NM_001017975.3(HFM1) c.1685+131A>G:1,1:NOT_FOUND,NOT_FOUND 1 91841004 . C . . NT END=91841083;NT GT ./. 1 91841285 . C . . NT END=91843581;NT GT ./. 1 91841301 rs282036 T C 167 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;NP=3459;Gene=HFM1/NM_001017975.4/1;CC=c.1396-17A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:23:0:0:43:1461:166.61:53.74:112.87:1.00:1.00:1.00:60:37.5:0:0:108:33:29:NM_001017975.3(HFM1) c.1396-17A>G,NM_001017975.3(HFM1) c.1396-17A>G:1,1:0.999065,0.999065 1 91843741 . C . . NT END=91843959;NT GT ./. 1 91844038 . C . . NT END=91844619;NT GT ./. 1 91844772 . C . . NT END=91845660;NT GT ./. 1 91845336 rs282034 A T 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.001597,T/0.9984;Gene=HFM1/NM_001017975.4/1;CC=c.1006+325T>A;VC=Intron;DM=HFM1/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:184:21.26:21.26:0.00:1.00:1.00:0.00:60:53.2:0:0:29:120:24:NM_001017975.3(HFM1) c.1006+325T>A,NM_001017975.3(HFM1) c.1006+325T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 91845794 . C . . NT END=91846468;NT GT ./. 1 91846374 rs282033 C A 42 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.0007987,A/0.9992;Gene=HFM1/NM_001017975.4/1;CC=c.873+95G>T;VC=Intron;DM=HFM1/DEAD;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:12:0:0:12:368:42.46:42.46:0.00:1.00:1.00:0.00:60:48.7:0:0:41:109:28:NM_001017975.3(HFM1) c.873+95G>T,NM_001017975.3(HFM1) c.873+95G>T:1,1:NOT_FOUND,NOT_FOUND 1 91846540 . C . . NT END=91850743;NT GT ./. 1 91846595 rs5776097 T TA 75 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.0007987,TA/0.9992;DB;DBA=NA;PAF=T/0.0007987,TA/0.9992;NP=3306;PC=0.918;Gene=HFM1/NM_001017975.4/1;CC=c.803-57dupT;VC=Intron;DM=HFM1/Sec63;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:T,TA:22:8:21:0:1,21:29,667:0.00,74.95:0.00,16.01:0.00,58.94:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,7.4:0,0:0,0:149,117:2,34:0,16:NM_001017975.3(HFM1) c.803-57_803-56insT,NM_001017975.3(HFM1) c.803-57_803-56insT:1,1:0.996058,0.996058 1 91846654 rs282032 A T 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.0007987,T/0.9992;PC=0.182;Gene=HFM1/NM_001017975.4/1;CC=c.803-115T>A;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:0:0:0:8:240:27.77:0.00:27.77:1.00:0.00:1.00:60:30.0:0:0:113:36:22:NM_001017975.3(HFM1) c.803-115T>A,NM_001017975.3(HFM1) c.803-115T>A:1,1:NOT_FOUND,NOT_FOUND 1 91850792 . C . . NT END=91851131;NT GT ./. 1 91851253 rs282026 T C 262 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;NP=3466;PC=0.774;Gene=HFM1/NM_001017975.4/1;CC=c.633A>G;ProtCh=p.Q211=;VC=Silent;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:47:0:0:68:2295:261.91:147.49:114.42:1.00:1.00:1.00:60:39.7:0:0:61:83:37:NM_001017975.3(HFM1) c.633A>G (p.(=)),NM_001017975.3(HFM1) c.633A>G (p.(=)):1,1:0.999,0.999 1 91851392 . C . . NT END=91859649;NT GT ./. 1 91851439 rs17485293 C T 50 nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.9956,T/0.004393;NP=81;Gene=HFM1/NM_001017975.4/1;CC=c.495-48G>A;VC=Intron;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:14:0:0:28,17:949,552:0.00,50.35:0.00,8.57:0.00,41.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,38.6:0,0:0,0:90,101:55,49:32,21:-,NM_001017975.3(HFM1) c.495-48G>A:-,0.01:-,0.011076 1 91859795 rs282009 T C 156 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;NP=3468;Gene=HFM1/NM_001017975.4/1;CC=c.349A>G;ProtCh=p.I117V;VC=Missense;DM=HFM1/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:24:0:0:41:1362:155.71:74.10:81.61:1.00:1.00:1.00:60:37.5:0:0:75:76:43:NM_001017975.3(HFM1) c.349A>G (p.Ile117Val),NM_001017975.3(HFM1) c.349A>G (p.Ile117Val):1,1:0.999077,0.999077 1 91859960 . C . . NT END=91861849;NT GT ./. 1 91861963 . C . . NT END=91866568;NT GT ./. 1 91866639 . T . . NT END=91967273;NT GT ./. 1 91963236 rs71821540 GAC G 12 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=14;PC=0.455;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,GAC,G:9:7:0:4:1,4,4:29,120,122:2.22,0.00,11.68:-0.15,0.00,10.42:2.37,0.00,1.26:0.00,0.00,0.85:0.00,0.00,0.97:0.00,0.00,0.84:60,60,60:110.0,14.2,9.5:1,0,0:0,0,0:54,79,59:97,68,91:0,35,27:-,NM_001134420.1(CDC7) c.-259-u3428_-259-u3427delAC:-,NOT_FOUND:-,NOT_FOUND 1 91967142 rs397728484 G GC 23 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.758,GC/0.242;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.758,GC/0.242;NP=955;Gene=CDC7/NM_001134419.1/0;CC=c.-29-102dupC;VC=Intron;Gene=CDC7/NM_003503.3/1;CC=c.-63-68dupC;VC=Intron;Gene=CDC7/NM_001134420.1/0;CC=c.-63-68dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:G,GC:13:13:8:0:5,8:112,227:0.00,22.77:0.00,22.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.6,23.4:1,0:0,0:62,61:89,89:17,17:-,NM_001134420.1(CDC7) c.-63-69_-63-68insC:-,0.21:-,NOT_FOUND 1 91967389 . G . . NT END=91973410;NT GT ./. 1 91973210 rs12137878 G T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.744,T/0.256;Gene=CDC7/NM_001134419.1/0;CC=c.116-201G>T;VC=Intron;Gene=CDC7/NM_003503.3/1;CC=c.116-201G>T;VC=Intron;Gene=CDC7/NM_001134420.1/0;CC=c.116-201G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,T:6:6:0:0:3,3:95,96:0.00,9.22:0.00,9.22:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:4.0,32.0:0,0:0,0:15,43:135,108:1,31:-,NM_001134420.1(CDC7) c.116-201G>T:-,0.27:-,NOT_FOUND 1 91973495 . G . . NT END=91973818;NT GT ./. 1 91973557 rs553606 T G 125 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.0007987,G/0.9992;NP=3465;Gene=CDC7/NM_001134419.1/0;CC=c.199+63T>G;VC=Intron;Gene=CDC7/NM_003503.3/1;CC=c.199+63T>G;VC=Intron;Gene=CDC7/NM_001134420.1/0;CC=c.199+63T>G;VC=Intron;DM=CDC7/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:13:0:0:33:1097:125.38:33.75:91.63:1.00:1.00:1.00:60:38.7:0:0:103:45:24:NM_001134420.1(CDC7) c.199+63T>G,NM_001134420.1(CDC7) c.199+63T>G:1,1:NOT_FOUND,NOT_FOUND 1 91973955 . G . . NT END=91977153;NT GT ./. 1 91977248 . G . . NT END=91977337;NT GT ./. 1 91977481 . G . . NT END=91978614;NT GT ./. 1 91978865 . G . . NT END=91979504;NT GT ./. 1 91978963 rs397761334 T TAA 11 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7412,TAA/0.2588;DB;DBA=NA;PAF=T/0.7412,TAA/0.2588;DB;DBA=NA;PAF=T/0.7412,TAA/0.2588;DB;DBA=NA;PAF=T/0.7412,TAA/0.2588;NP=1125;PC=0.002;Gene=CDC7/NM_001134419.1/0;CC=c.822+104_822+105dupAA;VC=Intron;Gene=CDC7/NM_003503.3/1;CC=c.822+104_822+105dupAA;VC=Intron;Gene=CDC7/NM_001134420.1/0;CC=c.822+104_822+105dupAA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:T,TAA:12:2:4:0:8,4:246,121:0.00,10.69:0.00,3.21:0.00,7.48:0.00,0.80:0.00,0.63:0.00,0.98:60,60:9.9,23.8:0,0:0,0:132,109:18,42:12,13:-,NM_001134420.1(CDC7) c.822+99_822+100insAA:-,NOT_FOUND:-,NOT_FOUND 1 91979601 . G . . NT END=91980375;NT GT ./. 1 91980447 rs483532 A G 137 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.231,G/0.769;PC=0.940;Gene=CDC7/NM_001134419.1/0;CC=c.990A>G;ProtCh=p.T330=;VC=Silent;Gene=CDC7/NM_003503.3/1;CC=c.990A>G;ProtCh=p.T330=;VC=Silent;Gene=CDC7/NM_001134420.1/0;CC=c.990A>G;ProtCh=p.T330=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:50:0:0:33,44:1060,1389:0.00,137.03:0.00,49.42:0.00,87.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,37.2:0,0:0,0:71,67:78,83:35,35:-,NM_001134420.1(CDC7) c.990A>G (p.(=)):-,0.78:-,0.779179 1 91980555 . G . . NT END=91981298;NT GT ./. 1 91981317 . T . . NT END=91981350;NT GT ./. 1 91981434 . G . . NT END=91985686;NT GT ./. 1 91985837 . G . . NT END=91989597;NT GT ./. 1 91989451 rs68022025 CTGTGTG C 30 sb;idl,nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=128;PC=0.029;Gene=CDC7/NM_001134419.1/0;CC=c.1331-121_1331-116delGTGTGT;VC=Intron;Gene=CDC7/NM_003503.3/1;CC=c.1331-121_1331-116delGTGTGT;VC=Intron;Gene=CDC7/NM_001134420.1/0;CC=c.1331-121_1331-116delGTGTGT;VC=Intron;DM=CDC7/Pkinase;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CTGTGTG,C:12:14:0:13:2,10:47,374:0.00,30.05:0.00,28.28:0.00,1.77:0.00,1.00:0.00,1.00:0.00,0.97:60,60:1.0,37.7:0,3:0,0:136,29:14,120:8,13:-,NM_001134420.1(CDC7) c.1331-146_1331-141delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 91989572 rs488126 T G 171 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.01158,G/0.9884;Gene=CDC7/NM_001134419.1/0;CC=c.1331-26T>G;VC=Intron;Gene=CDC7/NM_003503.3/1;CC=c.1331-26T>G;VC=Intron;Gene=CDC7/NM_001134420.1/0;CC=c.1331-26T>G;VC=Intron;DM=CDC7/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:40:0:0:46:1488:170.66:126.07:44.58:1.00:1.00:1.00:60:36.7:0:0:62:85:34:NM_001134420.1(CDC7) c.1331-26T>G,NM_001134420.1(CDC7) c.1331-26T>G:0.98,0.98:0.989006,0.989006 1 91989993 . T . . NT END=92149295;NT GT ./. 1 92013429 rs71087960 C CGTGT 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=5;NP=59;NP=6;NP=7;PC=0.018;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,CGTGT:6:5:3:1:3,3:82,93:0.00,8.94:0.00,2.64:0.00,6.30:0.00,0.73:0.00,0.96:0.00,0.94:60,60:27.0,6.3:0,0:0,0:40,41:111,108:12,13:-,chr1 g.92013429_92013430insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 92065692 rs12122935 C T 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6008,T/0.3992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:C,T:11:11:0:0:6,5:178,175:0.00,16.60:0.00,14.78:0.00,1.82:0.00,0.93:0.00,0.93:0.00,0.64:60,60:3.0,41.2:0,0:0,0:100,24:50,126:16,4:-,chr1 g.92065691C>T (intergenic):-,0.39:-,NOT_FOUND 1 92108899 rs2493202 C T 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1789,T/0.8211;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:10:0:0:7,9:249,285:0.00,28.03:0.00,8.55:0.00,19.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,49.2:0,0:0,0:94,98:56,37:26,24:-,NR_003130.2(HSP90B3P) n.926C>T:-,0.81:-,NOT_FOUND 1 92149096 rs1805116 C T 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9161,T/0.08387;PC=0.996;Gene=TGFBR3/NM_001195683.1/0;CC=c.*200G>A;VC=3UTR;Gene=TGFBR3/NM_003243.4/0;CC=c.*200G>A;VC=3UTR;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.*200G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:373:42.55:42.55:0.00:1.00:1.00:0.00:60:65.0:0:0:19:132:19:NM_001195684.1(TGFBR3) c.*200G>A,NM_001195684.1(TGFBR3) c.*200G>A:0.1,0.1:NOT_FOUND,NOT_FOUND 1 92149139 rs1805115 C T 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9161,T/0.08387;PC=0.011;Gene=TGFBR3/NM_001195683.1/0;CC=c.*157G>A;VC=3UTR;Gene=TGFBR3/NM_003243.4/0;CC=c.*157G>A;VC=3UTR;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.*157G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:468:54.80:54.80:0.00:1.00:1.00:0.00:60:56.1:0:0:54:97:27:NM_001195684.1(TGFBR3) c.*157G>A,NM_001195684.1(TGFBR3) c.*157G>A:0.1,0.1:NOT_FOUND,NOT_FOUND 1 92149277 rs1131243 C T 164 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.8988,T/0.1012;Gene=TGFBR3/NM_001195683.1/0;CC=c.*19G>A;VC=3UTR;Gene=TGFBR3/NM_003243.4/0;CC=c.*19G>A;VC=3UTR;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.*19G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:A,G,T:50:44:0:0:1,2,47:11,24,1427:0.22,1.05,163.68:0.22,1.05,134.18:0.00,0.00,29.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:25.0,63.5,37.9:0,0,0:0,0,0:14,102,58:137,48,93:0,9,26:NM_001195684.1(TGFBR3) c.*19G>A,NM_001195684.1(TGFBR3) c.*19G>A:0.14,0.14:0.143941,0.143941 1 92149415 . C . . NT END=92161228;NT GT ./. 1 92161337 . C . . NT END=92163645;NT GT ./. 1 92163688 . C . . NT END=92174219;NT GT ./. 1 92163786 rs2296621 G T 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.895,T/0.105;PC=0.058;Gene=TGFBR3/NM_001195683.1/0;CC=c.2285-99C>A;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.2288-99C>A;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.2285-99C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:4:0:0:15:474:54.55:10.88:43.67:1.00:1.00:1.00:60:36.5:0:0:122:28:21:NM_001195684.1(TGFBR3) c.2285-99C>A,NM_001195684.1(TGFBR3) c.2285-99C>A:0.12,0.12:NOT_FOUND,NOT_FOUND 1 92174260 rs284878 A G 344 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.09325,G/0.9067;PC=1.000;Gene=TGFBR3/NM_001195683.1/0;CC=c.2244T>C;ProtCh=p.T748=;VC=Silent;Gene=TGFBR3/NM_003243.4/0;CC=c.2247T>C;ProtCh=p.T749=;VC=Silent;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.2244T>C;ProtCh=p.T748=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:70:0:0:92:3002:343.96:201.19:142.76:1.00:1.00:1.00:60:40.3:0:0:78:68:30:NM_001195684.1(TGFBR3) c.2244T>C (p.(=)),NM_001195684.1(TGFBR3) c.2244T>C (p.(=)):0.91,0.91:0.939413,0.939413 1 92174341 . C . . NT END=92177799;NT GT ./. 1 92177612 rs284869 C A 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.09645,A/0.9036;PC=0.003;Gene=TGFBR3/NM_001195683.1/0;CC=c.2163+188G>T;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.2166+188G>T;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.2163+188G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:0:13:426:48.80:48.80:0.00:1.00:1.00:0.00:60:45.9:0:0:46:104:29:NM_001195684.1(TGFBR3) c.2163+188G>T,NM_001195684.1(TGFBR3) c.2163+188G>T:0.9,0.9:NOT_FOUND,NOT_FOUND 1 92177938 rs1805113 A G 325 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.7202,G/0.2798;PC=0.997;Gene=TGFBR3/NM_001195683.1/0;CC=c.2025T>C;ProtCh=p.F675=;VC=Silent;Gene=TGFBR3/NM_003243.4/0;CC=c.2028T>C;ProtCh=p.F676=;VC=Silent;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.2025T>C;ProtCh=p.F675=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:89:57:0:0:1,88:13,2831:0.21,324.56:0.00,167.43:0.21,157.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.0,39.8:0,0:0,0:6,74:145,73:0,31:NM_001195684.1(TGFBR3) c.2025T>C (p.(=)),NM_001195684.1(TGFBR3) c.2025T>C (p.(=)):0.31,0.31:0.404813,0.404813 1 92178100 . C . . NT END=92181792;NT GT ./. 1 92178260 rs1613413 A G 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.09625,G/0.9038;Gene=TGFBR3/NM_001195683.1/0;CC=c.1864-161T>C;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.1867-161T>C;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.1864-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:0:0:0:18:548:63.31:0.00:63.31:1.00:0.00:1.00:60:54.8:0:0:92:58:31:NM_001195684.1(TGFBR3) c.1864-161T>C,NM_001195684.1(TGFBR3) c.1864-161T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 92178335 rs2291477 C G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8858,G/0.1142;PC=0.003;Gene=TGFBR3/NM_001195683.1/0;CC=c.1864-236G>C;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.1867-236G>C;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.1864-236G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:80.8:0:0:120:29:18:NM_001195684.1(TGFBR3) c.1864-236G>C,NM_001195684.1(TGFBR3) c.1864-236G>C:0.13,0.13:NOT_FOUND,NOT_FOUND 1 92181557 rs397863722 G T 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6667,T/0.3333;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=TGFBR3/NM_001195683.1/0;CC=c.1863+236C>A;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.1866+236C>A;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.1863+236C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:1:4:109:12.73:12.73:0.00:1.00:1.00:0.00:60:34.2:0:0:93:57:39:NM_001195684.1(TGFBR3) c.1863+236C>A,NM_001195684.1(TGFBR3) c.1863+236C>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 92181952 . C . . NT END=92182124;NT GT ./. 1 92182266 . C . . NT END=92184868;NT GT ./. 1 92184814 rs7524066 G T 293 nt VT=SNV;PN=G;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.7728,C/.,T/0.2272;Gene=TGFBR3/NM_001195683.1/0;CC=c.1563+55C>A;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.1566+55C>A;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.1563+55C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:87:83:0:0:1,86:14,2524:0.25,292.57:0.25,247.76:0.00,44.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,36.7:0,0:0,0:25,43:126,106:0,28:NM_001195684.1(TGFBR3) c.1563+55C>A,NM_001195684.1(TGFBR3) c.1563+55C>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 92185022 . C . . NT END=92185449;NT GT ./. 1 92185185 rs2279455 T C 102 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4285,C/0.5715;PC=0.002;Gene=TGFBR3/NM_001195683.1/0;CC=c.1411-164A>G;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.1414-164A>G;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.1411-164A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:4:0:0:29:886:102.40:13.71:88.69:1.00:1.00:1.00:60:35.0:0:0:107:43:26:NM_001195684.1(TGFBR3) c.1411-164A>G,NM_001195684.1(TGFBR3) c.1411-164A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 92185657 rs1805112 C T 510 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.5938,T/0.4062;PC=0.986;Gene=TGFBR3/NM_001195683.1/0;CC=c.1203G>A;ProtCh=p.P401=;VC=Silent;Gene=TGFBR3/NM_003243.4/0;CC=c.1206G>A;ProtCh=p.P402=;VC=Silent;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.1203G>A;ProtCh=p.P401=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:135:86:0:0:135:4457:509.87:233.28:276.59:1.00:1.00:1.00:60:41.7:0:0:62:83:32:NM_001195684.1(TGFBR3) c.1203G>A (p.(=)),NM_001195684.1(TGFBR3) c.1203G>A (p.(=)):0.39,0.39:0.38167,0.38167 1 92185788 . C . . NT END=92187511;NT GT ./. 1 92187702 . C . . NT END=92193215;NT GT ./. 1 92193364 . C . . NT END=92195361;NT GT ./. 1 92194664 rs4658264 C T 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7316,T/0.2684;PC=0.001;Gene=TGFBR3/NM_001195683.1/0;CC=c.737+698G>A;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.737+698G>A;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.737+698G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:C,T:6:5:0:0:1,5:13,121:0.00,13.25:0.00,7.88:0.00,5.37:0.00,0.99:0.00,1.00:0.00,1.00:60,60:32.0,54.2:0,0:0,0:124,46:27,88:0,16:-,NM_001195684.1(TGFBR3) c.737+698G>A:-,0.32:-,NOT_FOUND 1 92194842 rs370461862 T TAC 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=15;NP=73;PC=0.013;Gene=TGFBR3/NM_001195683.1/0;CC=c.737+519_737+520insGT;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.737+519_737+520insGT;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.737+519_737+520insGT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:T,TAC:6:4:4:0:3,3:51,127:0.00,9.14:0.00,8.09:0.00,1.04:0.00,0.69:0.00,0.89:0.00,0.89:60,70:40.0,11.7:0,1:0,0:87,42:59,108:5,22:-,NM_001195684.1(TGFBR3) c.737+519_737+520insGT:-,NOT_FOUND:-,NOT_FOUND 1 92195531 . C . . NT END=92200332;NT GT ./. 1 92200218 rs2306887 T C 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6266,C/0.3734;PC=0.021;Gene=TGFBR3/NM_001195683.1/0;CC=c.568+115A>G;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.568+115A>G;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.568+115A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:20:0:0:20:616:71.11:71.11:0.00:1.00:1.00:0.00:60:38.2:0:0:45:104:26:NM_001195684.1(TGFBR3) c.568+115A>G,NM_001195684.1(TGFBR3) c.568+115A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 1 92200517 . C . . NT END=92224169;NT GT ./. 1 92200597 rs12124904 G A 151 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.628,A/0.372;Gene=TGFBR3/NM_001195683.1/0;CC=c.385-81C>T;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.385-81C>T;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.385-81C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:7:0:0:42:1313:151.31:17.15:134.16:1.00:1.00:1.00:60:54.2:0:0:102:48:31:NM_001195684.1(TGFBR3) c.385-81C>T,NM_001195684.1(TGFBR3) c.385-81C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 1 92200627 rs10874913 T C 97 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.1094,C/0.8906;Gene=TGFBR3/NM_001195683.1/0;CC=c.385-111A>G;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.385-111A>G;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.385-111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:0:0:0:28:836:96.93:0.00:96.93:1.00:0.00:1.00:60:66.8:0:0:102:48:29:NM_001195684.1(TGFBR3) c.385-111A>G,NM_001195684.1(TGFBR3) c.385-111A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 92200819 rs11165378 C T 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.01158,T/0.9884;Gene=TGFBR3/NM_001195683.1/0;CC=c.385-303G>A;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.385-303G>A;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.385-303G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:182:21.06:0.00:21.06:1.00:0.00:1.00:60:42.3:0:0:112:38:19:NM_001195684.1(TGFBR3) c.385-303G>A,NM_001195684.1(TGFBR3) c.385-303G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 92223976 rs284176 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3361,G/0.6639,T/.;Gene=TGFBR3/NM_001195683.1/0;CC=c.384+194T>C;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.384+194T>C;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.384+194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:78:9.55:9.55:0.00:1.00:1.00:0.00:60:47.0:0:0:58:92:19:NM_001195684.1(TGFBR3) c.384+194T>C,NM_001195684.1(TGFBR3) c.384+194T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 1 92224067 rs3738441 C T 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.638,T/0.362;Gene=TGFBR3/NM_001195683.1/0;CC=c.384+103G>A;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.384+103G>A;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.384+103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:23:0:0:11,14:373,400:0.00,39.21:0.00,36.52:0.00,2.69:0.00,1.00:0.00,1.00:0.00,0.92:60,60:17.0,37.6:0,0:0,0:32,21:117,129:32,12:-,NM_001195684.1(TGFBR3) c.384+103G>A:-,0.39:-,NOT_FOUND 1 92224308 . C . . NT END=92262843;NT GT ./. 1 92224347 rs11165441 G A 67 nt VT=SNV;PN=G;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.846,A/0.154;Gene=TGFBR3/NM_001195683.1/0;CC=c.247-40C>T;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.247-40C>T;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.247-40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:18:0:0:23,32:724,1078:67.14,0.00:8.38,0.00:58.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,6.7:0,0:0,0:92,92:53,57:32,27:NM_001195684.1(TGFBR3) c.247-40C>T,-:0.18,-:0.152161,- 1 92262874 rs2810904 T C 428 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.2847,C/0.7153,G/.;Gene=TGFBR3/NM_001195683.1/0;CC=c.216A>G;ProtCh=p.A72=;VC=Silent;Gene=TGFBR3/NM_003243.4/0;CC=c.216A>G;ProtCh=p.A72=;VC=Silent;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.216A>G;ProtCh=p.A72=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:122:94:0:0:121,1:3735,31:428.29,0.00:274.48,0.00:153.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,0.0:0,0:0,0:71,147:73,4:33,0:NM_001195684.1(TGFBR3) c.216A>G (p.(=)),NM_001195684.1(TGFBR3) c.216A>G (p.(=)):0.72,0.72:0.67861,0.67861 1 92263029 . C . . NT END=92327027;NT GT ./. 1 92263345 rs2297142 A C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6913,C/0.3087;PC=0.016;Gene=TGFBR3/NM_001195683.1/0;CC=c.62-317T>G;VC=Intron;Gene=TGFBR3/NM_003243.4/0;CC=c.62-317T>G;VC=Intron;Gene=TGFBR3/NR_036634.1/0;VC=NonCoding;Gene=TGFBR3/NM_001195684.1/1;CC=c.62-317T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:83:10.04:0.00:10.04:1.00:0.00:1.00:60:45.8:0:0:106:43:15:NM_001195684.1(TGFBR3) c.62-317T>G,NM_001195684.1(TGFBR3) c.62-317T>G:0.32,0.32:NOT_FOUND,NOT_FOUND 1 92327089 . T . . NT END=92428311;NT GT ./. 1 92367828 rs534984244 T TTGTG 22 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5775,TTGTG/0.4225;DB;DBA=NA;PAF=T/0.5775,TTGTG/0.4225,TTTTTG/.,TTTTTTTG/.;NP=1;NP=199;NP=2;NP=3;Gene=TGFBR3/NM_001195684.1/1;CC=c.-174-2575_-174-2574insCACA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TTGTG:6:4:6:0:6:194:22.26:9.24:13.02:1.00:1.00:1.00:60:19.8:0:0:35:105:8:NM_001195684.1(TGFBR3) c.-174-2575_-174-2574insCACA,NM_001195684.1(TGFBR3) c.-174-2575_-174-2574insCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 92428495 rs10783071 C A 216 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.244,A/0.756;PC=0.034;Gene=BRDT/NM_001242805.2/1;CC=c.184C>A;ProtCh=p.Q62K;VC=Missense;Gene=BRDT/NM_001242806.2/0;CC=c.184C>A;ProtCh=p.Q62K;VC=Missense;Gene=BRDT/NM_001242807.2/0;CC=c.184C>A;ProtCh=p.Q62K;VC=Missense;Gene=BRDT/NM_001242808.2/0;CC=c.184C>A;ProtCh=p.Q62K;VC=Missense;Gene=BRDT/NM_001242810.2/0;CC=c.-27-1689C>A;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.184C>A;ProtCh=p.Q62K;VC=Missense;Gene=BRDT/NM_001726.4/0;CC=c.184C>A;ProtCh=p.Q62K;VC=Missense;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:30:0:0:60:1876:216.04:74.00:142.04:1.00:1.00:1.00:60:37.2:0:0:95:51:25:NM_001242806.1(BRDT) c.184C>A (p.Gln62Lys),NM_001242806.1(BRDT) c.184C>A (p.Gln62Lys):0.77,0.77:0.859219,0.859219 1 92428504 . G . . NT END=92430183;NT GT ./. 1 92428630 rs112295474 C T 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9611,T/0.03894;PC=0.005;Gene=BRDT/NM_001242805.2/1;CC=c.192+127C>T;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.192+127C>T;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.192+127C>T;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.192+127C>T;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.-27-1554C>T;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.192+127C>T;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.192+127C>T;VC=Intron;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:1:0:0:6,10:199,262:0.00,26.28:0.00,-0.21:0.00,26.49:0.00,1.00:0.00,0.75:0.00,1.00:60,60:6.0,61.3:0,0:0,0:85,73:65,77:46,19:-,NM_001242806.1(BRDT) c.192+127C>T:-,0.05:-,NOT_FOUND 1 92430322 . G . . NT END=92433702;NT GT ./. 1 92430435 rs556374553 CGT C 34 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CGT/0.6885,C/0.3115;DB;DBA=NA;PAF=NA;NP=346;PC=0.006;Gene=BRDT/NM_001242805.2/1;CC=c.330+139_330+140delGT;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.330+139_330+140delGT;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.192+1957_192+1958delGT;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.192+1957_192+1958delGT;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.111+139_111+140delGT;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.330+139_330+140delGT;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.330+139_330+140delGT;VC=Intron;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGT,C:18:3:0:12:7,11:215,370:0.00,33.60:0.00,7.08:0.00,26.52:0.00,1.00:0.00,0.93:0.00,1.00:60,70:0.0,33.6:0,1:0,0:136,67:13,74:9,33:-,NM_001242806.1(BRDT) c.330+115_330+116delGT:-,NOT_FOUND:-,NOT_FOUND 1 92430460 rs71650477 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6935,A/0.3065;NP=190;PC=0.001;Gene=BRDT/NM_001242805.2/1;CC=c.330+139G>A;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.330+139G>A;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.192+1957G>A;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.192+1957G>A;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.111+139G>A;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.330+139G>A;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.330+139G>A;VC=Intron;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain;DM=BRDT/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,G:13:3:0:0:5,8:158,236:14.44,0.00:3.06,0.00:11.38,0.00:0.91,0.00:0.79,0.00:0.91,0.00:60,70:53.4,12.9:0,0:0,0:84,87:54,51:10,50:NM_001242806.1(BRDT) c.330+139G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 92433830 . G . . NT END=92441822;NT GT ./. 1 92441626 rs1328593 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.355,G/0.645;PC=0.006;Gene=BRDT/NM_001242805.2/1;CC=c.446-197C>G;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.458-197C>G;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.308-197C>G;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.308-197C>G;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.227-197C>G;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.446-197C>G;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.446-197C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,G:5:5:0:0:2,3:63,106:0.00,10.57:0.00,10.57:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:60.0,35.3:0,0:0,0:26,78:110,72:24,38:-,NM_001242806.1(BRDT) c.458-197C>G:-,0.65:-,NOT_FOUND 1 92441996 . G . . NT END=92442599;NT GT ./. 1 92442951 . G . . NT END=92443724;NT GT ./. 1 92443854 . G . . NT END=92445125;NT GT ./. 1 92445257 rs3088232 C G 118 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.8696,G/0.1304,T/.;PC=0.022;Gene=BRDT/NM_001242805.2/1;CC=c.1230C>G;ProtCh=p.N410K;VC=Missense;Gene=BRDT/NM_001242806.2/0;CC=c.1242C>G;ProtCh=p.N414K;VC=Missense;Gene=BRDT/NM_001242807.2/0;CC=c.1092C>G;ProtCh=p.N364K;VC=Missense;Gene=BRDT/NM_001242808.2/0;CC=c.1092C>G;ProtCh=p.N364K;VC=Missense;Gene=BRDT/NM_001242810.2/0;CC=c.1011C>G;ProtCh=p.N337K;VC=Missense;Gene=BRDT/NM_207189.3/0;CC=c.1230C>G;ProtCh=p.N410K;VC=Missense;Gene=BRDT/NM_001726.4/0;CC=c.1230C>G;ProtCh=p.N410K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:75:43:0:0:37,38:1189,1229:0.00,118.43:0.00,43.67:0.00,74.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,44.7:0,0:0,0:66,78:63,67:40,28:-,NM_001242806.1(BRDT) c.1242C>G (p.Asn414Lys):-,0.13:-,0.1843 1 92445315 . G . . NT END=92446199;NT GT ./. 1 92446001 rs11165910 C T 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.3385,T/0.6615;Gene=BRDT/NM_001242805.2/1;CC=c.1288-199C>T;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.1300-199C>T;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.1150-199C>T;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.1150-199C>T;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.1069-199C>T;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.1288-199C>T;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.1288-199C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:15:0:0:6,9:197,264:0.00,26.27:0.00,26.27:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.8,48.0:0,0:0,0:47,90:103,61:21,14:-,NM_001242806.1(BRDT) c.1300-199C>T:-,0.67:-,NOT_FOUND 1 92446112 rs11165911 T C 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.2843,C/0.7157;Gene=BRDT/NM_001242805.2/1;CC=c.1288-88T>C;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.1300-88T>C;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.1150-88T>C;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.1150-88T>C;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.1069-88T>C;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.1288-88T>C;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.1288-88T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:33:0:0:19,18:630,577:60.93,0.00:46.37,0.00:14.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,6.4:0,0:0,0:22,35:129,115:13,24:NM_001242806.1(BRDT) c.1300-88T>C,-:0.72,-:NOT_FOUND,- 1 92446373 . G . . NT END=92446445;NT GT ./. 1 92446398 rs2303967 T A 167 nt VT=SNV;PN=T;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.3385,A/0.6615;PC=0.015;Gene=BRDT/NM_001242805.2/1;CC=c.1460+26T>A;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.1472+26T>A;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.1322+26T>A;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.1322+26T>A;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.1241+26T>A;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.1460+26T>A;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.1460+26T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:102:71:0:0:53,49:1719,1569:166.52,0.00:95.41,0.00:71.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,10.2:0,0:0,0:90,83:58,68:30,29:NM_001242806.1(BRDT) c.1472+26T>A,-:0.67,-:0.703615,- 1 92446736 . G . . NT END=92446824;NT GT ./. 1 92446939 . G . . NT END=92447174;NT GT ./. 1 92446961 rs35241748 T TTGTA 33 rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.8403,TTGTA/0.1597,TTGTATGTA/.,TTGTATGTATGTA/.;DB;DBA=NA;PAF=T/0.8403,TTGTA/0.1597;NP=360;PC=0.003;Gene=BRDT/NM_001242805.2/1;CC=c.1864+47_1864+48insTGTA;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.1876+47_1876+48insTGTA;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.1726+47_1726+48insTGTA;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.1726+47_1726+48insTGTA;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.1645+47_1645+48insTGTA;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.1864+47_1864+48insTGTA;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.1864+47_1864+48insTGTA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTGTA:39:19:12:0:27,12:860,380:0.00,33.28:0.00,14.96:0.00,18.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,32.3:0,0:0,0:117,75:34,76:26,28:-,NM_001242806.1(BRDT) c.1876+23_1876+24insTGTA:-,NOT_FOUND:-,NOT_FOUND 1 92447004 rs10875104 A G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.2843,G/0.7157;Gene=BRDT/NM_001242805.2/1;CC=c.1864+66A>G;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.1876+66A>G;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.1726+66A>G;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.1726+66A>G;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.1645+66A>G;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.1864+66A>G;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.1864+66A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:16:0:0:20,14:622,469:0.00,43.58:0.00,15.84:0.00,27.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,39.1:0,0:0,0:43,93:107,57:32,30:-,NM_001242806.1(BRDT) c.1876+66A>G:-,0.72:-,NOT_FOUND 1 92447313 . G . . NT END=92456740;NT GT ./. 1 92456803 . G . . NT END=92457820;NT GT ./. 1 92457638 rs398103017 A AT 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9065,AT/0.09345;DB;DBA=NA;PAF=A/0.9065,AT/0.09345;NP=81;PC=0.007;Gene=BRDT/NM_001242805.2/1;CC=c.2065-176dupT;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.2077-176dupT;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.1927-176dupT;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.1927-176dupT;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.1846-176dupT;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.2065-176dupT;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.2065-176dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,AT:4:4:3:0:1,3:23,96:0.00,10.06:0.00,10.06:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:42.0,0.0:0,0:0,0:113,27:28,123:0,17:-,NM_001242806.1(BRDT) c.2077-183_2077-182insT:-,0.11:-,NOT_FOUND 1 92457843 rs10747493 C T 44 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.2899,T/0.7101;Gene=BRDT/NM_001242805.2/1;CC=c.2087C>T;ProtCh=p.P696L;VC=Missense;Gene=BRDT/NM_001242806.2/0;CC=c.2099C>T;ProtCh=p.P700L;VC=Missense;Gene=BRDT/NM_001242807.2/0;CC=c.1949C>T;ProtCh=p.P650L;VC=Missense;Gene=BRDT/NM_001242808.2/0;CC=c.1949C>T;ProtCh=p.P650L;VC=Missense;Gene=BRDT/NM_001242810.2/0;CC=c.1868C>T;ProtCh=p.P623L;VC=Missense;Gene=BRDT/NM_207189.3/0;CC=c.2087C>T;ProtCh=p.P696L;VC=Missense;Gene=BRDT/NM_001726.4/0;CC=c.2087C>T;ProtCh=p.P696L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:16:0:0:10,13:296,447:0.00,44.14:0.00,23.17:0.00,20.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.1,38.4:0,0:0,0:80,69:38,77:35,19:-,NM_001242806.1(BRDT) c.=:-,0.71:-,0.778205 1 92457872 . G . . NT END=92459639;NT GT ./. 1 92459812 . G . . NT END=92467605;NT GT ./. 1 92460056 rs5776131 TTCCCAGA T 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TTCCCAGA/0.9599,T/0.04014;NP=41;PC=0.696;Gene=BRDT/NM_001242805.2/1;CC=c.2287+248_2287+254delCCAGATC;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.2299+248_2299+254delCCAGATC;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.2149+248_2149+254delCCAGATC;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.2149+248_2149+254delCCAGATC;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.2068+248_2068+254delCCAGATC;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.2287+248_2287+254delCCAGATC;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.2287+248_2287+254delCCAGATC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:TTCCCAGA,T:6:0:0:3:3,3:97,96:0.00,9.22:0.00,0.00:0.00,9.22:0.00,0.73:0.00,0.00:0.00,0.73:60,60:36.3,19.3:0,0:0,0:106,96:45,55:3,9:-,NM_001242806.1(BRDT) c.2299+246_2299+252delTCCCAGA:-,0.04:-,NOT_FOUND 1 92460068 rs5014048 A C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9605,C/0.03954;PC=0.437;Gene=BRDT/NM_001242805.2/1;CC=c.2287+257A>C;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.2299+257A>C;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.2149+257A>C;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.2149+257A>C;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.2068+257A>C;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.2287+257A>C;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.2287+257A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C:6:0:0:0:3,3:84,105:0.00,10.13:0.00,0.00:0.00,10.13:0.00,0.73:0.00,0.00:0.00,0.73:60,60:36.3,19.3:0,3:0,0:118,101:33,50:3,9:-,NM_001242806.1(BRDT) c.2299+257A>C:-,0.04:-,NOT_FOUND 1 92460069 rs5014049 G T 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9605,T/0.03954;PC=0.063;Gene=BRDT/NM_001242805.2/1;CC=c.2287+258G>T;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.2299+258G>T;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.2149+258G>T;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.2149+258G>T;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.2068+258G>T;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.2287+258G>T;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.2287+258G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,T:6:0:0:0:3,3:78,100:0.00,9.64:0.00,0.00:0.00,9.64:0.00,0.73:0.00,0.00:0.00,0.73:60,60:36.3,19.3:0,3:0,0:119,102:32,49:3,9:-,NM_001242806.1(BRDT) c.2299+258G>T:-,0.04:-,NOT_FOUND 1 92467439 rs2303968 T C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2891,C/0.7109;PC=0.001;Gene=BRDT/NM_001242805.2/1;CC=c.2288-167T>C;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.2300-167T>C;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.2150-167T>C;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.2150-167T>C;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.2069-167T>C;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.2288-167T>C;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.2288-167T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:C,T:9:9:0:0:5,4:142,131:13.87,0.00:13.87,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:77.6,4.5:0,0:0,0:50,62:100,87:46,38:NM_001242806.1(BRDT) c.2300-167T>C,-:0.71,-:NOT_FOUND,- 1 92467707 . G . . NT END=92469970;NT GT ./. 1 92467741 rs72954738 A C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.9599,C/0.04014,T/.;PC=0.066;Gene=BRDT/NM_001242805.2/1;CC=c.2388+35A>C;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.2400+35A>C;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.2250+35A>C;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.2250+35A>C;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.2169+35A>C;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.2388+35A>C;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.2388+35A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,C:12:5:0:0:7,5:220,162:0.00,15.05:0.00,4.84:0.00,10.20:0.00,0.92:0.00,0.92:0.00,0.99:60,60:32.9,32.4:0,0:0,0:143,97:8,21:7,29:-,NM_001242806.1(BRDT) c.2400+35A>C:-,0.05:-,0.076503 1 92470177 . G . . NT END=92470675;NT GT ./. 1 92470397 rs3767853 A C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8666,C/0.1334;PC=0.016;Gene=BRDT/NM_001242805.2/1;CC=c.2594+221A>C;VC=Intron;Gene=BRDT/NM_001242806.2/0;CC=c.2606+221A>C;VC=Intron;Gene=BRDT/NM_001242807.2/0;CC=c.2456+221A>C;VC=Intron;Gene=BRDT/NM_001242808.2/0;CC=c.2456+221A>C;VC=Intron;Gene=BRDT/NM_001242810.2/0;CC=c.2375+221A>C;VC=Intron;Gene=BRDT/NM_207189.3/0;CC=c.2594+221A>C;VC=Intron;Gene=BRDT/NM_001726.4/0;CC=c.2594+221A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,C:7:4:0:0:1,6:32,198:0.00,21.41:0.00,9.68:0.00,11.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,37.0:0,0:0,0:5,103:146,48:0,40:-,NM_001242806.1(BRDT) c.2606+221A>C:-,0.14:-,NOT_FOUND 1 92470857 . G . . NT END=92479762;NT GT ./. 1 92479832 . A . . NT END=92495636;NT GT ./. 1 92495436 rs113830634 C T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9629,T/0.03714 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:C,T:12:12:0:0:7,5:208,112:0.00,10.01:0.00,10.01:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:25.4,107.8:0,0:0,0:42,31:109,120:33,12:-,NM_173567.4(EPHX4) c.-104-u97C>T:-,0.05:-,NOT_FOUND 1 92495868 . G . . NT END=92498061;NT GT ./. 1 92498148 . G . . NT END=92508379;NT GT ./. 1 92508130 rs1928000 T A 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4886,A/0.5114;PC=0.006;Gene=EPHX4/NM_173567.4/1;CC=c.318-250T>A;VC=Intron;DM=EPHX4/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:334:38.60:38.60:0.00:1.00:1.00:0.00:60:45.7:0:0:45:106:19:NM_173567.4(EPHX4) c.318-250T>A,NM_173567.4(EPHX4) c.318-250T>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 92508167 rs6692045 G A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6651,A/0.3349;PC=0.046;Gene=EPHX4/NM_173567.4/1;CC=c.318-213G>A;VC=Intron;DM=EPHX4/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:12:12:0:0:3,9:103,251:8.81,0.00:8.81,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:60,60:67.7,27.6:0,0:0,0:85,69:66,82:20,31:NM_173567.4(EPHX4) c.318-213G>A,-:0.32,-:NOT_FOUND,- 1 92508281 rs66834073 C CA 23 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=6;PC=0.136;Gene=EPHX4/NM_173567.4/1;CC=c.318-80_318-79insA;VC=Intron;DM=EPHX4/Abhydrolase_1;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:C,CA,D:18:22:12:5:7,8,3:229,351,134:0.00,23.04,8.35:0.00,20.92,8.38:0.00,2.12,-0.03:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.65,0.00:60,60,60:38.0,46.5,0.0:0,4,1:0,0,0:27,26,54:121,119,96:27,19,40:-,NM_173567.4(EPHX4) c.318-99_318-98insA:-,NOT_FOUND:-,NOT_FOUND 1 92508538 . G . . NT END=92511088;NT GT ./. 1 92508673 rs6663816 T G 71 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4846,G/0.5154;Gene=EPHX4/NM_173567.4/1;CC=c.475+136T>G;VC=Intron;DM=EPHX4/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A,G:20:0:0:0:1,19:8,622:0.24,70.83:0.00,0.00:0.24,70.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:96.0,43.9:0,0:0,0:47,87:70,64:0,31:NM_173567.4(EPHX4) c.475+136T>G,NM_173567.4(EPHX4) c.475+136T>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 92511218 . G . . NT END=92515873;NT GT ./. 1 92515978 . G . . NT END=92518066;NT GT ./. 1 92518216 . G . . NT END=92528611;NT GT ./. 1 92528844 . C . . NT END=92540064;NT GT ./. 1 92540010 . GA G 13 idl,rn VT=DEL;SST=Single;DP=32;NP=2;PC=0.800;Gene=SETSIP/NM_001287737.1/1;CC=c.*79delT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:GA,I,G:32:32:4:5:23,4,5:750,126,160:0.00,9.57,12.67:0.00,9.57,12.67:0.00,0.00,0.00:0.00,0.00,0.79:0.00,0.00,0.79:0.00,0.00,0.00:60,60,60:32.3,2.0,8.2:0,0,0:0,0,0:65,21,53:85,129,97:27,13,11:-,NM_183242.3(BTBD8) c.-267-u5851delA:-,NOT_FOUND:-,NOT_FOUND 1 92541025 . G . . NT END=92546128;NT GT ./. 1 92546278 . G . . NT END=92554254;NT GT ./. 1 92554453 . G . . NT END=92568029;NT GT ./. 1 92568227 . G . . NT END=92573440;NT GT ./. 1 92568263 rs527412 A G 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.2216,G/0.7784,T/.;PC=0.021;Gene=BTBD8/NM_183242.3/1;CC=c.544+37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:14:0:0:9,20:292,682:0.00,69.92:0.00,26.60:0.00,43.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,36.4:0,0:0,0:86,104:61,29:22,22:-,NM_183242.3(BTBD8) c.544+37A>G:-,0.77:-,0.698276 1 92573559 . G . . NT END=92595243;NT GT ./. 1 92591916 rs3851272 G A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.274,A/0.726;PC=1.000;Gene=BTBD8/NM_183242.3/1;CC=c.663-3328G>A;VC=Intron;DM=BTBD8/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:9:6:0:0:3,6:101,215:9.04,0.00:2.68,0.00:6.36,0.00:0.64,0.00:0.42,0.00:0.42,0.00:60,60:33.7,0.0:0,0:0,0:65,76:85,75:9,19:NM_183242.3(BTBD8) c.663-3328G>A,-:0.72,-:NOT_FOUND,- 1 92595334 . G . . NT END=92604906;NT GT ./. 1 92604988 . G . . NT END=92606671;NT GT ./. 1 92606769 . G . . NT END=92612736;NT GT ./. 1 92612826 . G . . NT END=92613240;NT GT ./. 1 92613359 . A . . NT END=92633413;NT GT ./. 1 92633543 . G . . NT END=92634422;NT GT ./. 1 92634553 . G . . NT END=92636955;NT GT ./. 1 92637018 . G . . NT END=92642385;NT GT ./. 1 92643104 . G . . NT END=92643367;NT GT ./. 1 92643456 . G . . NT END=92643868;NT GT ./. 1 92644009 . G . . NT END=92645821;NT GT ./. 1 92646021 rs1483022 G A 153 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.2891,A/0.7109;PC=1.000;Gene=KIAA1107/NM_015237.2/1;CC=c.1467G>A;ProtCh=p.K489=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:93:62:0:0:49,1,43:1575,25,1400:153.25,0.85,0.00:75.58,-0.11,0.00:77.68,0.96,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,57.0,5.1:0,0,0:0,0,0:70,54,57:80,96,90:42,0,36:NM_015237.2(KIAA1107) c.1467G>A (p.(=)),-:0.7,-:NOT_FOUND,- 1 92647223 rs560389 A G 103 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.1687,G/0.8313;PC=0.988;Gene=KIAA1107/NM_015237.2/1;CC=c.2669A>G;ProtCh=p.N890S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:47:0:0:48,33:1435,1105:0.00,102.52:0.00,50.03:0.00,52.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.8,38.6:0,0:0,0:67,78:75,67:41,35:-,NM_015237.2(KIAA1107) c.2669A>G (p.Asn890Ser):-,0.81:-,0.751096 1 92647532 rs565156 C A 397 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.004393,A/0.9956;NP=982;PC=0.995;Gene=KIAA1107/NM_015237.2/1;CC=c.2978C>A;ProtCh=p.T993N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:106:59:0:0:106:3470:397.49:170.55:226.94:1.00:1.00:1.00:60:38.4:0:0:74:67:37:NM_015237.2(KIAA1107) c.2978C>A (p.Thr993Asn),NM_015237.2(KIAA1107) c.2978C>A (p.Thr993Asn):0.99,0.99:0.98664,0.98664 1 92648153 . G . . NT END=92649420;NT GT ./. 1 92649312 rs386367663 G GTT 8 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3255,GTT/0.6745,GTTT/.;DB;DBA=NA;PAF=G/0.3255,GTT/0.6745;NP=2;NP=3;PC=0.011;Gene=KIAA1107/NM_015237.2/1;CC=c.3599-95_3599-94dupTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,GTT,D:8:9:4:1:4,3,1:139,125,33:0.00,8.50,2.62:0.00,8.50,2.62:0.00,0.00,0.00:0.00,0.64,0.00:0.00,0.64,0.00:0.00,0.00,0.00:60,60,60:110.5,94.7,19.0:0,1,0:0,0,0:31,12,52:100,125,99:21,2,0:-,NM_015237.2(KIAA1107) c.3599-109_3599-108insTT:-,NOT_FOUND:-,NOT_FOUND 1 92649335 rs569593 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1665,G/0.8335;Gene=KIAA1107/NM_015237.2/1;CC=c.3599-86A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,C,G,T:15:15:0:0:7,1,6,1:177,12,148,35:0.00,0.38,13.72,2.59:0.00,0.40,11.99,2.61:0.00,-0.02,1.73,-0.02:0.00,0.00,0.96,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.70,0.00:60,60,60,60:29.1,149.0,41.5,296.0:0,0,0,0:0,0,0,0:26,36,30,68:124,88,116,83:15,0,12,0:-,NM_015237.2(KIAA1107) c.3599-86A>G:-,0.82:-,NOT_FOUND 1 92649888 . G . . NT END=92696977;NT GT ./. 1 92694232 rs3122318 T A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.001797,A/0.9982;NP=139;Gene=C1orf146/NM_001012425.1/1;CC=c.-39-2707T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:3:0:0:6:176:20.46:6.95:13.50:1.00:1.00:1.00:60:35.3:0:0:88:63:34:NM_001012425.1(C1orf146) c.-39-2707T>A,NM_001012425.1(C1orf146) c.-39-2707T>A:1,1:NOT_FOUND,NOT_FOUND 1 92697044 . G . . NT END=92707768;NT GT ./. 1 92707863 . G . . NT END=92709773;NT GT ./. 1 92709689 rs10676893 T TAC 42 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.08347,TAC/0.9165,TCA/.;NP=2916;PC=0.004;Gene=C1orf146/NM_001012425.1/1;CC=c.161-84_161-83insCA;VC=Intron;DM=C1orf146/DUF4580;DM=C1orf146/DUF4580;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAC:24:24:13:0:11,13:362,427:0.00,41.71:0.00,40.08:0.00,1.64:0.00,1.00:0.00,1.00:0.00,0.82:60,60:2.3,2.5:0,0:0,0:49,65:101,85:24,44:-,NM_001012425.1(C1orf146) c.161-85_161-84insAC:-,0.88:-,NOT_FOUND 1 92709943 . G . . NT END=92710335;NT GT ./. 1 92710415 . G . . NT END=92711096;NT GT ./. 1 92711232 . A . . NT END=92712086;NT GT ./. 1 92712204 . C . . NT END=92712618;NT GT ./. 1 92712266 rs974924 C T 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.003594,T/0.9964;NP=3389;Gene=GLMN/NM_053274.2/1;CC=c.1669-63G>A;VC=Intron;DM=GLMN/Kinetochor_Ybp2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:8:0:0:22:645:74.87:18.21:56.66:1.00:1.00:1.00:60:37.8:0:0:96:53:25:NM_053274.2(GLMN) c.1669-63G>A,NM_053274.2(GLMN) c.1669-63G>A:1,1:NOT_FOUND,NOT_FOUND 1 92712702 . C . . NT END=92713434;NT GT ./. 1 92712861 rs71586740 CAG C 17 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CAG/0.8283,C/0.1717;DB;DBA=NA;PAF=CAG/0.8283,C/0.1717;NP=681;PC=0.015;Gene=GLMN/NM_053274.2/1;CC=c.1586-162_1586-161delCT;VC=Intron;DM=GLMN/Kinetochor_Ybp2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:CAG,C:8:0:0:6:2,6:72,162:0.00,17.09:0.00,0.00:0.00,17.09:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,25.0:0,0:0,0:83,71:67,79:14,47:-,NM_053274.2(GLMN) c.1586-162_1586-161delCT:-,0.19:-,NOT_FOUND 1 92713547 . C . . NT END=92728419;NT GT ./. 1 92728484 . C . . NT END=92729179;NT GT ./. 1 92729290 . C . . NT END=92730110;NT GT ./. 1 92730196 . C . . NT END=92731975;NT GT ./. 1 92732050 . C . . NT END=92732256;NT GT ./. 1 92732299 . C . . NT END=92733469;NT GT ./. 1 92733560 . C . . NT END=92733661;NT GT ./. 1 92733693 . C . . NT END=92735279;NT GT ./. 1 92735334 . C . . NT END=92737021;NT GT ./. 1 92737210 . C . . NT END=92752046;NT GT ./. 1 92752150 . C . . NT END=92754470;NT GT ./. 1 92754709 . C . . NT END=92755754;NT GT ./. 1 92755864 . C . . NT END=92756974;NT GT ./. 1 92757095 . C . . NT END=92762960;NT GT ./. 1 92762672 . CT C 9 rn VT=DEL;SST=Single;DP=7;NP=1;PC=0.001;Gene=GLMN/NM_053274.2/1;CC=c.165+288delA;VC=Intron;DM=GLMN/Kinetochor_Ybp2;DM=GLMN/Kinetochor_Ybp2;DM=GLMN/Kinetochor_Ybp2;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CT,I,C:7:7:1:3:3,1,3:104,33,95:0.00,2.73,9.10:0.00,2.73,7.44:0.00,0.00,1.65:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.62:60,60,60:85.3,11.0,51.3:0,0,0:0,0,0:73,21,74:78,130,77:16,0,30:-,NM_053274.2(GLMN) c.165+288delA:-,NOT_FOUND:-,NOT_FOUND 1 92763087 . C . . NT END=92763517;NT GT ./. 1 92763091 . C CA 25 idl,rn VT=INS;SST=Single;DP=82;NP=4;PC=0.015;Gene=GLMN/NM_053274.2/1;CC=c.40-6dupT;VC=Intron;DM=GLMN/Kinetochor_Ybp2;DM=GLMN/Kinetochor_Ybp2;DM=GLMN/Kinetochor_Ybp2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,C,CA,D:79:41:12:6:10,55,11,3:155,1595,358,137:8.50,0.00,24.65,3.85:-1.41,0.00,9.01,0.52:9.91,0.00,15.64,3.34:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,70,60:68.3,19.8,18.6,75.7:1,1,1,2:0,0,0,0:70,114,81,103:79,32,46,47:18,20,21,8:-,NM_053274.2(GLMN) c.40-6_40-5insT:-,NOT_FOUND:-,NOT_FOUND 1 92763557 . T . . NT END=92764630;NT GT ./. 1 92764704 . G . . NT END=92765750;NT GT ./. 1 92764828 rs10875348 T A 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.003594,A/0.9964;NP=431;Gene=RPAP2/NM_024813.2/1;CC=c.73+125T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:233:26.64:0.00:26.64:1.00:0.00:1.00:60:33.3:0:0:65:85:5:NM_024813.2(RPAP2) c.73+125T>A,NM_024813.2(RPAP2) c.73+125T>A:1,1:NOT_FOUND,NOT_FOUND 1 92765797 . G . . NT END=92767032;NT GT ./. 1 92767148 . G . . NT END=92769533;NT GT ./. 1 92767292 rs6604089 A T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.06829,T/0.9317;PC=0.932;Gene=RPAP2/NM_024813.2/1;CC=c.234+145A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,T:5:0:0:0:2,3:47,82:0.00,8.17:0.00,0.00:0.00,8.17:0.00,0.78:0.00,0.00:0.00,0.78:60,60:24.5,27.3:0,0:0,0:135,25:15,126:6,8:-,NM_024813.2(RPAP2) c.234+145A>T:-,0.9:-,NOT_FOUND 1 92769633 . G . . NT END=92769840;NT GT ./. 1 92769907 . G . . NT END=92772744;NT GT ./. 1 92772834 . G . . NT END=92786155;NT GT ./. 1 92786192 . G . . NT END=92789001;NT GT ./. 1 92788769 rs2046621 T G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.06809,G/0.9319;Gene=RPAP2/NM_024813.2/1;CC=c.525-233T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:G,T:4:4:0:0:2,2:71,66:6.85,0.00:6.85,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:40.5,0.0:0,0:0,0:46,29:104,121:36,0:NM_024813.2(RPAP2) c.525-233T>G,-:0.9,-:NOT_FOUND,- 1 92789933 . G . . NT END=92798947;NT GT ./. 1 92799031 . G . . NT END=92801903;NT GT ./. 1 92801985 . G . . NT END=92811402;NT GT ./. 1 92811472 . G . . NT END=92846280;NT GT ./. 1 92846431 . G . . NT END=92852567;NT GT ./. 1 92846489 . CT C 9 rn VT=DEL;SST=Single;DP=23;NP=30;PC=0.001;Gene=RPAP2/NM_024813.2/1;CC=c.1838+70delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:CT,I,C:23:6:1:4:18,1,4:513,33,114:0.00,2.07,8.79:0.00,1.15,1.26:0.00,0.92,7.53:0.00,0.00,0.69:0.00,0.00,0.66:0.00,0.00,0.95:60,60,60:3.7,0.0,22.5:0,0,0:0,0,0:118,101,125:33,20,24:16,0,5:-,NM_024813.2(RPAP2) c.1838+60delT:-,NOT_FOUND:-,NOT_FOUND 1 92852390 rs11164312 T C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8293,C/0.1707;PC=0.012;Gene=RPAP2/NM_024813.2/1;CC=c.1839-178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:10:10:0:0:3,7:84,221:7.18,0.00:7.18,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:60,60:53.7,25.4:0,0:0,0:32,72:119,77:26,30:NM_024813.2(RPAP2) c.1839-178T>C,-:0.19,-:NOT_FOUND,- 1 92852504 rs10747411 A G 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.06849,G/0.9315;Gene=RPAP2/NM_024813.2/1;CC=c.1839-64A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:27:20:0:0:16,1,10:526,12,327:0.00,0.15,29.94:0.00,-0.16,17.87:0.00,0.31,12.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.7,23.0,40.9:0,0,0:0,0,0:35,15,54:105,134,96:20,0,13:-,NM_024813.2(RPAP2) c.1839-64A>G:-,0.9:-,0.848664 1 92852581 . A . . NT END=92941585;NT GT ./. 1 92880244 . ATG A 10 rn VT=DEL;SST=Single;DP=6;NP=4;PC=0.004;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:ATG,A:5:5:0:4:2,3:66,128:0.00,9.53:0.00,4.41:0.00,5.11:0.00,0.73:0.00,0.96:0.00,0.79:60,60:28.5,6.7:0,1:0,0:60,78:73,71:37,17:-,chr1 g.92880245_92880246delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 92941357 rs4970714 A G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1917,G/0.8083;Gene=GFI1/NM_001127215.1/0;CC=c.*229T>C;VC=3UTR;Gene=GFI1/NM_001127216.1/0;CC=c.*229T>C;VC=3UTR;Gene=GFI1/NM_005263.3/1;CC=c.*229T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:A,G:10:10:0:0:5,5:156,150:0.00,14.37:0.00,14.37:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:2.2,51.4:0,0:0,0:50,50:101,101:10,21:-,NM_005263.3(GFI1) c.*229T>C:-,0.78:-,NOT_FOUND 1 92941765 . C . . NT END=92944144;NT GT ./. 1 92944311 . C . . NT END=92945904;NT GT ./. 1 92944314 . CAG C 58 idl,rn VT=DEL;SST=Single;DP=116;NP=7;PC=0.280;Gene=GFI1/NM_001127215.1/0;CC=c.925-6_925-5delCT;VC=Intron;Gene=GFI1/NM_001127216.1/0;CC=c.925-6_925-5delCT;VC=Intron;Gene=GFI1/NM_005263.3/1;CC=c.925-6_925-5delCT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAG,I,C:97:79:18:34:66,8,23:2130,539,986:0.00,15.04,57.90:0.00,9.38,28.03:0.00,5.66,29.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:13.7,58.4,24.2:0,10,9:0,0,0:122,53,62:26,96,87:18,20,20:-,NM_005263.3(GFI1) c.925-6_925-5delCT:-,NOT_FOUND:-,NOT_FOUND 1 92944486 rs182047789 G A 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=6;PC=0.024;Gene=GFI1/NM_001127215.1/0;CC=c.925-176C>T;VC=Intron;Gene=GFI1/NM_001127216.1/0;CC=c.925-176C>T;VC=Intron;Gene=GFI1/NM_005263.3/1;CC=c.925-176C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:1:0:0:15,12:456,413:44.65,0.00:1.81,0.00:42.84,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:48.6,4.5:0,0:0,0:65,100:86,50:31,24:NM_005263.3(GFI1) c.925-176C>T,-:0.0009,-:NOT_FOUND,- 1 92946043 . C . . NT END=92946157;NT GT ./. 1 92946479 rs11164605 G A 252 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=185;DB;DBA=NA;PAF=G/0.08107,A/0.9189;PC=0.961;Gene=GFI1/NM_001127215.1/0;CC=c.465C>T;ProtCh=p.C155=;VC=Silent;Gene=GFI1/NM_001127216.1/0;CC=c.465C>T;ProtCh=p.C155=;VC=Silent;Gene=GFI1/NM_005263.3/1;CC=c.465C>T;ProtCh=p.C155=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:185:118:0:0:88,1,96:2656,9,3036:252.19,-0.17,0.00:119.15,-0.10,0.00:133.04,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.5,24.0,11.6:0,0,0:0,0,0:67,78,62:76,73,83:34,0,27:NM_005263.3(GFI1) c.465C>T (p.(=)),-:0.89,-:0.851884,- 1 92946646 . C . . NT END=92948420;NT GT ./. 1 92948604 . C . . NT END=92948929;NT GT ./. 1 92949045 . G . . NT END=92979212;NT GT ./. 1 92979124 rs6603978 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1621,A/0.8379;NP=370;PC=0.981;Gene=EVI5/NM_001308248.1/1;CC=c.*89C>T;VC=3UTR;Gene=EVI5/NM_005665.5/0;CC=c.*89C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:12:11:0:3:7,5:226,136:22.41,0.00:22.97,0.00:-0.56,0.00:0.99,0.00:1.00,0.00:0.86,0.00:60,60:45.4,12.8:0,0:0,0:34,0:105,151:17,0:NM_005665.4(EVI5) c.*89C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 92979354 rs6603979 A G 158 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.07967,G/0.9203;PC=0.089;Gene=EVI5/NM_001308248.1/1;CC=c.2325T>C;ProtCh=p.G775=;VC=Silent;Gene=EVI5/NM_005665.5/0;CC=c.2292T>C;ProtCh=p.G764=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:103:68:0:0:53,50:1617,1651:0.00,157.97:0.00,66.34:0.00,91.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,41.5:0,0:0,0:98,88:46,60:29,29:-,NM_005665.4(EVI5) c.2292T>C (p.(=)):-,0.89:-,0.838382 1 92979528 . C . . NT END=93029198;NT GT ./. 1 92979681 rs56325708 TTA T 15 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=TTA/0.07967,T/0.9203;DB;DBA=NA;PAF=TTA/0.07967,T/0.9203;DB;DBA=NA;PAF=TTA/0.07967,T/0.9203;NP=565;PC=0.003;Gene=EVI5/NM_001308248.1/1;CC=c.2152-156_2152-155delTA;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.2119-156_2119-155delTA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:TTA,T:16:0:0:5:11,5:334,165:0.00,14.58:0.00,0.00:0.00,14.58:0.00,0.88:0.00,0.00:0.00,0.88:60,60:2.8,2.2:0,0:0,0:107,113:44,38:22,5:-,NM_005665.4(EVI5) c.2119-156_2119-155delTA:-,0.89:-,NOT_FOUND 1 93029295 . C . . NT END=93070863;NT GT ./. 1 93029453 rs6656432 A G 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.08007,G/0.9199;PC=0.001;Gene=EVI5/NM_001308248.1/1;CC=c.2056-159T>C;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.2023-159T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:13:0:0:0:3,10:95,333:0.00,35.02:0.00,0.00:0.00,35.02:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.3,36.5:0,0:0,0:92,125:58,26:46,14:-,NM_005665.4(EVI5) c.2023-159T>C:-,0.89:-,NOT_FOUND 1 93070960 . C . . NT END=93073137;NT GT ./. 1 93071048 rs2050597 G T 69 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.04952,T/0.9505;Gene=EVI5/NM_001308248.1/1;CC=c.1960-89C>A;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.1927-89C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:2:0:0:20:594:68.83:5.92:62.91:1.00:1.00:1.00:60:44.8:0:0:112:38:22:NM_005665.4(EVI5) c.1927-89C>A,NM_005665.4(EVI5) c.1927-89C>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 93073228 rs11808092 C A 63 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.8766,A/0.1234;PC=0.999;Gene=EVI5/NM_001308248.1/1;CC=c.1869G>T;ProtCh=p.Q623H;VC=Missense;Gene=EVI5/NM_005665.5/0;CC=c.1836G>T;ProtCh=p.Q612H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:35:24:0:0:19,16:641,547:62.68,0.00:37.44,0.00:25.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,6.4:0,0:0,0:81,83:66,68:31,37:NM_005665.4(EVI5) c.1836G>T (p.Gln612His),-:0.15,-:0.205584,- 1 93073285 . C . . NT END=93089732;NT GT ./. 1 93089823 rs7514716 T C 171 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.05092,C/0.9491;PC=1.000;Gene=EVI5/NM_001308248.1/1;CC=c.1722A>G;ProtCh=p.Q574=;VC=Silent;Gene=EVI5/NM_005665.5/0;CC=c.1689A>G;ProtCh=p.Q563=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:C:44:30:0:0:44:1501:171.08:75.30:95.78:1.00:1.00:1.00:60:39.2:0:0:80:71:34:NM_005665.4(EVI5) c.1689A>G (p.(=)),NM_005665.4(EVI5) c.1689A>G (p.(=)):0.94,0.94:0.913194,0.913194 1 93089892 . C . . NT END=93091350;NT GT ./. 1 93091492 . C . . NT END=93101758;NT GT ./. 1 93101894 . C . . NT END=93128275;NT GT ./. 1 93128423 . C . . NT END=93128976;NT GT ./. 1 93128514 rs397809144 T TA 36 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.3013,TA/0.6987;DB;DBA=NA;PAF=T/0.3013,TA/0.6987;NP=274;PC=1.000;Gene=EVI5/NM_001308248.1/1;CC=c.1377+462dupT;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.1344+2981dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:22:5:15:0:9,13:249,421:0.00,36.18:0.00,8.04:0.00,28.15:0.00,1.00:0.00,0.98:0.00,1.00:60,60:37.1,61.3:0,3:0,0:128,112:16,39:22,15:-,NM_005665.4(EVI5) c.1344+2981_1344+2982insT:-,NOT_FOUND:-,NOT_FOUND 1 93128854 rs10747450 A G 59 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.04952,G/0.9505;PC=0.995;Gene=EVI5/NM_001308248.1/1;CC=c.1377+123T>C;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.1344+2642T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:515:58.65:58.65:0.00:1.00:1.00:0.00:60:43.3:0:0:29:120:25:NM_005665.4(EVI5) c.1344+2642T>C,NM_005665.4(EVI5) c.1344+2642T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 93129010 . C . . NT END=93131495;NT GT ./. 1 93131550 . C . . NT END=93142714;NT GT ./. 1 93142776 . C . . NT END=93159358;NT GT ./. 1 93159365 . AT A 7 rn VT=DEL;SST=Single;DP=29;NP=11;PC=1.000;Gene=EVI5/NM_001308248.1/1;CC=c.1222delA;ProtCh=p.M408*;VC=FrameShiftDel;Gene=EVI5/NM_005665.5/0;CC=c.1222delA;ProtCh=p.M408*;VC=FrameShiftDel;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:AT,A:29:27:0:3:26,3:865,96:0.00,6.84:0.00,4.29:0.00,2.55:0.00,0.43:0.00,0.87:0.00,0.60:60,60:12.7,3.3:0,0:0,0:78,22:64,117:38,4:-,NM_005665.4(EVI5) c.1215A[7] (p.Met408*):-,NOT_FOUND:-,NOT_FOUND 1 93159457 . C . . NT END=93159855;NT GT ./. 1 93159821 rs77156329 C CA 8 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=7;PC=0.022;Gene=EVI5/NM_001308248.1/1;CC=c.1131+34_1131+35insT;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.1131+34_1131+35insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:C,CA,D:26:21:4:1:22,3,1:692,132,33:0.00,7.55,1.99:0.00,7.98,2.13:0.00,-0.43,-0.14:0.00,0.44,0.00:0.00,0.83,0.00:0.00,0.65,0.00:60,60,60:20.6,0.0,10.0:0,1,0:0,0,0:68,41,97:81,110,54:46,21,0:-,NM_005665.4(EVI5) c.1131+34_1131+35insT:-,NOT_FOUND:-,NOT_FOUND 1 93159946 . C . . NT END=93160866;NT GT ./. 1 93160002 rs34202284 G A 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.8654,A/0.1346;Gene=EVI5/NM_001308248.1/1;CC=c.1042-57C>T;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.1042-57C>T;VC=Intron;DM=EVI5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:6:0:0:10,15:273,447:24.74,0.00:4.81,0.00:19.92,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:48.2,17.3:0,0:0,0:132,109:17,24:7,40:NM_005665.4(EVI5) c.1042-57C>T,-:0.15,-:0.21901,- 1 93160902 rs2391199 T C 122 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.04972,C/0.9503;PC=0.002;Gene=EVI5/NM_001308248.1/1;CC=c.1006A>G;ProtCh=p.I336V;VC=Missense;Gene=EVI5/NM_005665.5/0;CC=c.1006A>G;ProtCh=p.I336V;VC=Missense;DM=EVI5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:22:0:0:32:1072:122.44:64.92:57.52:1.00:1.00:1.00:60:38.9:0:0:63:78:34:NM_005665.4(EVI5) c.1006A>G (p.Ile336Val),NM_005665.4(EVI5) c.1006A>G (p.Ile336Val):0.94,0.94:0.912963,0.912963 1 93161011 . C . . NT END=93163416;NT GT ./. 1 93163385 rs7418336 A G 65 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.2909,G/0.7091;PC=0.032;Gene=EVI5/NM_001308248.1/1;CC=c.897+32T>C;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.897+32T>C;VC=Intron;DM=EVI5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:39:0:0:24,23:774,686:0.00,65.32:0.00,43.45:0.00,21.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,42.3:0,0:0,0:57,49:86,101:25,23:-,NM_005665.4(EVI5) c.897+32T>C:-,0.68:-,0.601 1 93163543 . C . . NT END=93167697;NT GT ./. 1 93163633 rs1017008 C T 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.04972,T/0.9503;Gene=EVI5/NM_001308248.1/1;CC=c.772-91G>A;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.772-91G>A;VC=Intron;DM=EVI5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:8:0:0:21:643:74.26:20.57:53.69:1.00:1.00:1.00:60:39.9:0:0:95:55:24:NM_005665.4(EVI5) c.772-91G>A,NM_005665.4(EVI5) c.772-91G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 93167610 rs10218567 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.04992,T/0.9501;Gene=EVI5/NM_001308248.1/1;CC=c.771+88G>A;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.771+88G>A;VC=Intron;DM=EVI5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:234:26.74:26.74:0.00:1.00:1.00:0.00:60:33.4:0:0:44:106:21:NM_005665.4(EVI5) c.771+88G>A,NM_005665.4(EVI5) c.771+88G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 93167773 . C . . NT END=93168951;NT GT ./. 1 93167854 rs10218670 A G 47 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.04992,G/0.9501;Gene=EVI5/NM_001308248.1/1;CC=c.697-82T>C;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.697-82T>C;VC=Intron;DM=EVI5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:2:0:0:13:409:47.05:3.53:43.53:1.00:1.00:1.00:60:47.2:0:0:129:22:21:NM_005665.4(EVI5) c.697-82T>C,NM_005665.4(EVI5) c.697-82T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 93169177 . C . . NT END=93170111;NT GT ./. 1 93170302 . C . . NT END=93179553;NT GT ./. 1 93170523 rs397723441 T TA 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.866,TA/0.134;DB;DBA=NA;PAF=T/0.866,TA/0.134;NP=21;PC=0.005;Gene=EVI5/NM_001308248.1/1;CC=c.282-223dupT;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.282-223dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:T,TA:4:0:3:0:1,3:7,93:0.00,9.85:0.00,0.00:0.00,9.85:0.00,0.85:0.00,0.00:0.00,0.85:60,60:169.0,0.0:1,0:0,0:113,108:38,42:0,11:-,NM_005665.4(EVI5) c.282-223_282-222insT:-,0.16:-,NOT_FOUND 1 93179730 . G . . NT END=93201954;NT GT ./. 1 93202185 . C . . NT END=93249810;NT GT ./. 1 93250042 . C . . NT END=93250392;NT GT ./. 1 93250107 rs67117364 CTCCG C 128 nt VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=CTCCG/0.06969,C/0.9303;DB;DBA=NA;PAF=CTCCG/0.06969,C/0.9303;NP=560;Gene=EVI5/NM_001308248.1/1;CC=c.51+7790_51+7793delCGGA;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.51+7790_51+7793delCGGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CTCCG,C:41:13:0:37:4,37:116,1162:0.00,128.15:0.00,29.66:0.00,98.49:0.00,1.00:0.00,1.00:0.00,1.00:60,70:17.2,7.2:0,0:0,0:140,96:4,55:2,30:-,NM_005665.4(EVI5) c.51+7790_51+7793delCGGA:-,NOT_FOUND:-,NOT_FOUND 1 93250650 . C . . NT END=93257900;NT GT ./. 1 93250894 rs4847363 C T 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.06949,T/0.9305;Gene=EVI5/NM_001308248.1/1;CC=c.51+7007G>A;VC=Intron;Gene=EVI5/NM_005665.5/0;CC=c.51+7007G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:252:29.01:0.00:29.01:1.00:0.00:1.00:60:46.0:0:0:127:24:14:NM_005665.4(EVI5) c.51+7007G>A,NM_005665.4(EVI5) c.51+7007G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 93257952 . G . . NT END=93297671;NT GT ./. 1 93262944 . G GGT 10 nt VT=INS;SST=Single;DP=6;NP=3;PC=0.003;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,GGT:5:4:4:0:2,3:66,130:0.00,9.73:0.00,8.59:0.00,1.14:0.00,0.73:0.00,0.94:0.00,0.89:60,60:51.5,51.0:0,1:0,0:73,30:78,119:5,10:-,NM_005665.4(EVI5) c.-10-u4984_-10-u4983insAC:-,NOT_FOUND:-,NOT_FOUND 1 93262946 rs7513437 G T 23 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.0635,GGG/.,GT/0.9365;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:4:0:0:6:200:22.86:12.97:9.89:1.00:1.00:1.00:60:43.0:4:0:44:106:22:NM_005665.4(EVI5) c.-10-u4985C>A,NM_005665.4(EVI5) c.-10-u4985C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 93297675 . G . . NT END=93298945;NT GT ./. 1 93298756 rs1854797 T C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7853,C/0.2147;Gene=RPL5/NM_000969.3/1;CC=c.4-190T>C;VC=Intron;Gene=FAM69A/NM_001252273.1/1;CC=c.475-165A>G;VC=Intron;DM=RPL5/Ribosomal_L18p GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:11:11:0:0:6,5:192,166:18.77,0.00:18.77,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:44.2,0.0:0,0:0,0:18,52:132,97:7,40:NM_000969.3(RPL5) c.4-190T>C,-:0.22,-:NOT_FOUND,- 1 93299016 . G . . NT END=93299101;NT GT ./. 1 93299218 . G . . NT END=93300335;NT GT ./. 1 93300471 . G . . NT END=93301746;NT GT ./. 1 93301950 . G . . NT END=93303012;NT GT ./. 1 93303191 . G . . NT END=93306107;NT GT ./. 1 93306197 . G . . NT END=93307322;NT GT ./. 1 93306317 rs10874744 G A 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.3081,A/0.6919;PC=0.999;Gene=RPL5/NM_000969.3/1;CC=c.794+121G>A;VC=Intron;Gene=FAM69A/NM_001252273.1/1;CC=c.474+6423C>T;VC=Intron;Gene=SNORA66/NR_002444.2/0;VC=NonCoding;DM=RPL5/Ribosomal_L18_c GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:1:0:0:9,12:288,373:26.87,0.00:-0.12,0.00:27.00,0.00:1.00,0.00:0.62,0.00:1.00,0.00:60,60:33.2,5.1:0,0:0,0:116,81:35,68:28,43:NR_002444.2(SNORA66) n.42G>A,-:0.68,-:0.569062,- 1 93307423 . A . . NT END=93307716;NT GT ./. 1 93307908 rs4240962 T A 205 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.1126,A/0.8874;Gene=FAM69A/NM_001252273.1/1;CC=c.474+4832A>T;VC=Intron;Gene=FAM69A/NM_001252271.1/0;CC=c.*1032A>T;VC=3UTR;Gene=FAM69A/NM_001006605.4/0;CC=c.*1032A>T;VC=3UTR;Gene=FAM69A/NM_001252269.1/0;CC=c.*1032A>T;VC=3UTR;Gene=FAM69A/NM_001252270.1/0;CC=c.*1032A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:A:57:35:0:0:57:1782:205.23:105.60:99.63:1.00:1.00:1.00:60:37.0:0:0:73:77:33:NM_001252273.1(FAM69A) c.474+4832A>T,NM_001252273.1(FAM69A) c.474+4832A>T:0.89,0.89:NOT_FOUND,NOT_FOUND 1 93308035 rs376231510 G GA 77 rn VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.8347,GA/0.1653;DB;DBA=NA;PAF=NA;NP=286;PC=0.001;Gene=FAM69A/NM_001252273.1/1;CC=c.474+4704dupT;VC=Intron;Gene=FAM69A/NM_001252271.1/0;CC=c.*904dupT;VC=3UTR;Gene=FAM69A/NM_001006605.4/0;CC=c.*904dupT;VC=3UTR;Gene=FAM69A/NM_001252269.1/0;CC=c.*904dupT;VC=3UTR;Gene=FAM69A/NM_001252270.1/0;CC=c.*904dupT;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA:55:31:26:0:1,28,26:26,936,806:1.13,0.00,76.76:1.23,0.00,31.32:-0.10,0.00,45.43:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:164.0,7.2,12.2:1,1,0:0,0,0:82,71,68:65,76,83:0,30,25:-,NM_001252273.1(FAM69A) c.474+4704_474+4705insT:-,0.19:-,NOT_FOUND 1 93308168 rs75748040 T TA 81 PASS VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=671;Gene=FAM69A/NM_001252273.1/1;CC=c.474+4571dupT;VC=Intron;Gene=FAM69A/NM_001252271.1/0;CC=c.*771dupT;VC=3UTR;Gene=FAM69A/NM_001006605.4/0;CC=c.*771dupT;VC=3UTR;Gene=FAM69A/NM_001252269.1/0;CC=c.*771dupT;VC=3UTR;Gene=FAM69A/NM_001252270.1/0;CC=c.*771dupT;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:55:40:26:0:1,28,26:33,877,853:1.82,0.00,81.48:0.90,0.00,46.92:0.92,0.00,34.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:45.0,9.6,5.0:0,0,0:0,0,0:0,68,52:89,63,90:0,26,21:-,NM_001252273.1(FAM69A) c.474+4571_474+4572insT:-,NOT_FOUND:-,NOT_FOUND 1 93308798 rs2244588 G A 290 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.02696,A/0.973;PC=0.009;Gene=FAM69A/NM_001252273.1/1;CC=c.474+3942C>T;VC=Intron;Gene=FAM69A/NM_001252271.1/0;CC=c.*142C>T;VC=3UTR;Gene=FAM69A/NM_001006605.4/0;CC=c.*142C>T;VC=3UTR;Gene=FAM69A/NM_001252269.1/0;CC=c.*142C>T;VC=3UTR;Gene=FAM69A/NM_001252270.1/0;CC=c.*142C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:58:0:0:79:2526:290.26:154.94:135.32:1.00:1.00:1.00:60:60.9:0:0:73:77:28:NM_001252273.1(FAM69A) c.474+3942C>T,NM_001252273.1(FAM69A) c.474+3942C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 93308853 rs2244496 C A 358 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=C/0.04054,A/0.9595;PC=0.016;Gene=FAM69A/NM_001252273.1/1;CC=c.474+3887G>T;VC=Intron;Gene=FAM69A/NM_001252271.1/0;CC=c.*87G>T;VC=3UTR;Gene=FAM69A/NM_001006605.4/0;CC=c.*87G>T;VC=3UTR;Gene=FAM69A/NM_001252269.1/0;CC=c.*87G>T;VC=3UTR;Gene=FAM69A/NM_001252270.1/0;CC=c.*87G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:96:51:0:0:96:3124:358.03:138.75:219.28:1.00:1.00:1.00:60:62.6:0:0:80:63:34:NM_001252273.1(FAM69A) c.474+3887G>T,NM_001252273.1(FAM69A) c.474+3887G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 93309753 . C . . NT END=93312739;NT GT ./. 1 93312592 rs12062315 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8343,T/0.1657;Gene=FAM69A/NM_001252273.1/1;CC=c.474+148G>A;VC=Intron;Gene=FAM69A/NM_001252271.1/0;CC=c.399+148G>A;VC=Intron;Gene=FAM69A/NM_001006605.4/0;CC=c.474+148G>A;VC=Intron;Gene=FAM69A/NM_001252269.1/0;CC=c.339+148G>A;VC=Intron;Gene=FAM69A/NM_001252270.1/0;CC=c.298-2840G>A;VC=Intron;DM=FAM69A/PIP49_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:C,T:11:11:0:0:5,6:174,174:0.00,16.92:0.00,16.92:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:6.4,44.8:0,0:0,0:57,25:93,125:17,7:-,NM_001252273.1(FAM69A) c.474+148G>A:-,0.19:-,NOT_FOUND 1 93312917 . C . . NT END=93316404;NT GT ./. 1 93316513 . C . . NT END=93341852;NT GT ./. 1 93335630 rs35927745 TATAC T 12 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=131;PC=0.021;Gene=FAM69A/NM_001252273.1/1;CC=c.189+6219_189+6222delGTAT;VC=Intron;Gene=FAM69A/NM_001252271.1/0;CC=c.114+6219_114+6222delGTAT;VC=Intron;Gene=FAM69A/NM_001006605.4/0;CC=c.189+6219_189+6222delGTAT;VC=Intron;Gene=FAM69A/NM_001252269.1/0;CC=c.55-19122_55-19119delGTAT;VC=Intron;Gene=FAM69A/NM_001252270.1/0;CC=c.189+6219_189+6222delGTAT;VC=Intron;DM=FAM69A/PIP49_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TATAC,T:5:5:0:4:1,4:34,109:0.00,11.69:0.00,11.69:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,70:0.0,25.5:1,0:0,0:100,78:47,59:0,48:-,NM_001252273.1(FAM69A) c.189+6219_189+6222delGTAT:-,NOT_FOUND:-,NOT_FOUND 1 93341988 . C . . NT END=93342517;NT GT ./. 1 93342708 . G . . NT END=93426932;NT GT ./. 1 93426866 rs945629 T C 113 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.005791,C/0.9942;Gene=FAM69A/NM_001252273.1/1;CC=c.54+67A>G;VC=Intron;Gene=FAM69A/NM_001006605.4/0;CC=c.54+67A>G;VC=Intron;Gene=FAM69A/NM_001252269.1/0;CC=c.54+67A>G;VC=Intron;Gene=FAM69A/NM_001252270.1/0;CC=c.54+67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:29:0:0:32:978:113.00:92.78:20.22:1.00:1.00:1.00:60:94.0:0:0:48:102:28:NM_001252273.1(FAM69A) c.54+67A>G,NM_001252273.1(FAM69A) c.54+67A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 93426869 rs1415069 G C 125 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.2244,C/0.7756;PC=0.004;Gene=FAM69A/NM_001252273.1/1;CC=c.54+64C>G;VC=Intron;Gene=FAM69A/NM_001006605.4/0;CC=c.54+64C>G;VC=Intron;Gene=FAM69A/NM_001252269.1/0;CC=c.54+64C>G;VC=Intron;Gene=FAM69A/NM_001252270.1/0;CC=c.54+64C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:31:0:0:34:1089:125.08:102.22:22.86:1.00:1.00:1.00:60:90.5:0:0:40:108:25:NM_001252273.1(FAM69A) c.54+64C>G,NM_001252273.1(FAM69A) c.54+64C>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 93426874 rs116489989 G T 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.8672,T/0.1328;Gene=FAM69A/NM_001252273.1/1;CC=c.54+59C>A;VC=Intron;Gene=FAM69A/NM_001006605.4/0;CC=c.54+59C>A;VC=Intron;Gene=FAM69A/NM_001252269.1/0;CC=c.54+59C>A;VC=Intron;Gene=FAM69A/NM_001252270.1/0;CC=c.54+59C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:35:32:0:0:17,18:522,590:0.00,57.09:0.00,51.08:0.00,6.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.4,110.1:0,0:0,0:37,48:109,100:20,25:-,NM_001252273.1(FAM69A) c.54+59C>A:-,0.16:-,NOT_FOUND 1 93426987 . G . . NT END=93545083;NT GT ./. 1 93427231 rs6681240 C G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4884,G/0.5116;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,G:6:1:0:0:1,5:32,147:0.00,15.91:0.00,1.75:0.00,14.16:0.00,0.99:0.00,0.89:0.00,0.99:60,60:0.0,57.2:0,0:0,0:113,113:38,38:0,13:-,NM_001252273.1(FAM69A) c.-93-u152G>C:-,0.52:-,NOT_FOUND 1 93489500 rs678537 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.006789,C/0.9932;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:120:13.91:0.00:13.91:1.00:0.00:1.00:60:30.0:0:0:88:61:4:chr1 g.93489499T>C (intergenic),chr1 g.93489499T>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 93503438 rs2448417 A ACG 14 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,ACG:6:6:4:0:2,4:68,134:0.00,13.65:0.00,10.19:0.00,3.46:0.00,0.93:0.00,0.93:0.00,0.97:60,60:50.0,5.0:0,0:0,0:93,80:55,67:42,12:-,chr1 g.93503438_93503439insCG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 93545089 . G . . NT END=93575786;NT GT ./. 1 93545157 rs2815419 G A 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.225,A/0.775;PC=1.000;Gene=MTF2/NM_001164391.1/1;CC=c.-222+69G>A;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.5+69G>A;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.-21+69G>A;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.5+69G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:14:0:0:18,10:500,298:50.58,0.00:20.72,0.00:29.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,36.4:0,0:0,0:128,118:13,27:14,17:NM_007358.3(MTF2) c.5+69G>A,-:0.81,-:0.795445,- 1 93575986 . G . . NT END=93576101;NT GT ./. 1 93576184 . G . . NT END=93580244;NT GT ./. 1 93576302 rs494745 T G 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2718;Gene=MTF2/NM_001164391.1/1;CC=c.-21+119T>G;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.286+119T>G;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.-20-3943T>G;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.286+119T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:264:30.21:0.00:30.21:1.00:0.00:1.00:60:53.9:0:0:89:61:7:NM_007358.3(MTF2) c.286+119T>G,NM_007358.3(MTF2) c.286+119T>G:1,1:NOT_FOUND,NOT_FOUND 1 93580341 . G . . NT END=93580544;NT GT ./. 1 93580581 rs2815427 G C 81 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=3468;PC=1.000;Gene=MTF2/NM_001164391.1/1;CC=c.113G>C;ProtCh=p.C38S;VC=Missense;Gene=MTF2/NM_001164392.1/0;CC=c.419G>C;ProtCh=p.C140S;VC=Missense;Gene=MTF2/NM_001164393.1/0;CC=c.113G>C;ProtCh=p.C38S;VC=Missense;Gene=MTF2/NM_007358.3/0;CC=c.419G>C;ProtCh=p.C140S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:14:0:0:22:703:80.76:34.39:46.36:1.00:1.00:1.00:60:36.4:0:0:83:52:25:NM_007358.3(MTF2) c.=,NM_007358.3(MTF2) c.=:1,1:0.998693,0.998693 1 93580646 . G . . NT END=93581026;NT GT ./. 1 93580879 rs2295424 T C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.508,C/0.492;PC=0.007;Gene=MTF2/NM_001164391.1/1;CC=c.178-148T>C;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.484-148T>C;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.178-148T>C;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.484-148T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:11:10:0:0:4,7:135,222:12.28,0.00:12.47,0.00:-0.20,0.00:0.82,0.00:0.98,0.00:0.58,0.00:60,60:65.0,3.6:0,0:0,0:83,82:67,69:29,40:NM_007358.3(MTF2) c.484-148T>C,-:0.51,-:NOT_FOUND,- 1 93580992 rs566843 C T 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3343,T/0.6657;Gene=MTF2/NM_001164391.1/1;CC=c.178-35C>T;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.484-35C>T;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.178-35C>T;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.484-35C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:31:0:0:20,16:648,559:0.00,52.80:0.00,38.16:0.00,14.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.7,69.4:0,0:0,0:39,65:107,85:16,31:-,NM_007358.3(MTF2) c.484-35C>T:-,0.68:-,0.599493 1 93581024 rs2295423 T C 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.5024,C/0.4976;PC=0.997;Gene=MTF2/NM_001164391.1/1;CC=c.178-3T>C;VC=Intergenic;Gene=MTF2/NM_001164392.1/0;CC=c.484-3T>C;VC=Intergenic;Gene=MTF2/NM_001164393.1/0;CC=c.178-3T>C;VC=Intergenic;Gene=MTF2/NM_007358.3/0;CC=c.484-3T>C;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:43:37:0:0:1,21,21:10,691,630:-0.01,66.48,0.00:0.07,50.18,0.00:-0.08,16.30,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:51.0,60.8,0.7:0,0,0:0,0,0:27,67,68:124,84,83:0,33,17:NM_007358.3(MTF2) c.484-3T>C,-:0.52,-:0.479317,- 1 93581176 . G . . NT END=93583901;NT GT ./. 1 93583818 rs57730693 CT C 10 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=91;PC=0.001;Gene=MTF2/NM_001164391.1/1;CC=c.327-65delT;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.633-65delT;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.327-65delT;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.633-65delT;VC=Intron;DM=MTF2/PHD;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:CT,I,C:6:7:2:3:2,1,3:67,51,100:0.00,1.21,9.84:0.00,1.21,9.84:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,60:81.0,82.0,59.3:0,1,0:0,0,0:27,96,36:107,54,115:16,23,13:-,NM_007358.3(MTF2) c.633-83delT:-,NOT_FOUND:-,NOT_FOUND 1 93583998 . G . . NT END=93584889;NT GT ./. 1 93584870 rs539857118 C CT 22 idl,rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=101;PC=0.005;Gene=MTF2/NM_001164391.1/1;CC=c.423-6dupT;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.729-6dupT;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.423-6dupT;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.729-6dupT;VC=Intron;DM=MTF2/PHD;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT,D:31:27:8:5:19,2,8,2:644,58,254,134:0.00,3.81,22.00,4.81:0.00,-0.37,10.77,4.96:0.00,4.18,11.23,-0.15:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.98,0.00:60,60,60,60:10.2,29.0,33.5,39.0:0,0,0,2:0,0,0,0:63,22,42,70:69,108,98,73:31,22,26,14:-,NM_007358.3(MTF2) c.729-20_729-19insT:-,NOT_FOUND:-,NOT_FOUND 1 93584959 . G . . NT END=93586105;NT GT ./. 1 93585858 . GA G 7 rn VT=DEL;SST=Single;DP=4;PC=0.016;Gene=MTF2/NM_001164391.1/1;CC=c.492-228delA;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.798-228delA;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.492-228delA;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.798-228delA;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:GA,I,G:4:4:1:2:1,1,2:35,33,66:0.00,3.05,6.65:0.00,3.05,6.65:0.00,0.00,0.00:0.00,0.00,0.94:0.00,0.00,0.94:0.00,0.00,0.00:60,60,60:22.0,0.0,0.0:0,0,0:0,0,0:59,28,33:91,123,118:0,0,6:-,NM_007358.3(MTF2) c.798-247delA:-,NOT_FOUND:-,NOT_FOUND 1 93586230 . G . . NT END=93586351;NT GT ./. 1 93587349 rs71094231 ATTTTTTTTTTTTT A 36 idl VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=ATTTTTTTTTTTTT/0.00599,A/0.994;DB;DBA=NA;PAF=ATTTTTTTTTTTTT/0.00599,A/0.994;NP=217;PC=0.066;Gene=MTF2/NM_001164391.1/1;CC=c.615+1134_615+1146delTTTTTTTTTTTTT;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.921+1134_921+1146delTTTTTTTTTTTTT;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.615+1134_615+1146delTTTTTTTTTTTTT;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.921+1134_921+1146delTTTTTTTTTTTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTTTTTTTTTTTT,T,A:32:18:0:27:18,1,13:530,32,659:0.00,1.87,35.95:0.00,-0.06,13.01:0.00,1.94,22.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:30.6,131.0,55.2:0,1,9:0,0,0:131,127,81:15,-9,62:9,0,23:-,NM_007358.3(MTF2) c.921+1121_921+1133delTTTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 93587354 . t . . NT END=93592788;NT GT ./. 1 93587435 rs2208044 C T 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5098,T/0.4902;Gene=MTF2/NM_001164391.1/1;CC=c.615+1206C>T;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.921+1206C>T;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.615+1206C>T;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.921+1206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:3:0:0:17,13:509,449:0.00,42.20:0.00,8.98:0.00,33.21:0.00,1.00:0.00,0.83:0.00,1.00:60,60:18.2,40.0:0,0:0,0:105,107:46,28:18,31:-,NM_007358.3(MTF2) c.921+1206C>T:-,0.5:-,NOT_FOUND 1 93592857 . G . . NT END=93594834;NT GT ./. 1 93595006 . G . . NT END=93599259;NT GT ./. 1 93595115 rs200494793 AT A 9 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3;PC=0.012;Gene=MTF2/NM_001164391.1/1;CC=c.854+130delT;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.989+2279delT;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.854+130delT;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.1160+130delT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:AT,A:15:0:0:4:11,4:301,109:0.00,9.04:0.00,0.00:0.00,9.04:0.00,0.76:0.00,0.00:0.00,0.76:60,60:26.2,48.2:0,0:0,0:138,114:13,36:9,13:-,NM_007358.3(MTF2) c.1160+111delT:-,NOT_FOUND:-,NOT_FOUND 1 93595306 rs2281525 G A,C 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3816,C/0.6184 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,C:5:0:0:0:1,4:10,136:0.79,15.12:0.00,0.00:0.79,15.12:0.00,0.96:0.00,0.00:0.00,0.96:43,60:10.0,43.2:0,0:0,0:21,132:129,18:0,1:NM_007358.3(MTF2) c.1160+301G>A,NM_007358.3(MTF2) c.1160+301G>C:NOT_FOUND,0.62:NOT_FOUND,NOT_FOUND 1 93599366 . G . . NT END=93599484;NT GT ./. 1 93599538 . G . . NT END=93599647;NT GT ./. 1 93599753 . G . . NT END=93602226;NT GT ./. 1 93602194 rs2281524 C T 166 nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.1532,T/0.8468;Gene=MTF2/NM_001164391.1/1;CC=c.1119-33C>T;VC=Intron;Gene=MTF2/NM_001164392.1/0;CC=c.1254-33C>T;VC=Intron;Gene=MTF2/NM_001164393.1/0;CC=c.1119-33C>T;VC=Intron;Gene=MTF2/NM_007358.3/0;CC=c.1425-33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:43:0:0:47:1436:165.95:138.14:27.80:1.00:1.00:1.00:60:36.6:0:0:32:99:25:NM_007358.3(MTF2) c.1425-33C>T,NM_007358.3(MTF2) c.1425-33C>T:0.86,0.86:0.910643,0.910643 1 93602585 . C . . NT END=93620226;NT GT ./. 1 93602675 rs574626028 T TA 10 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=2;PC=0.999;Gene=MTF2/NM_001164391.1/1;CC=c.*105dupA;VC=3UTR;Gene=MTF2/NM_001164392.1/0;CC=c.*105dupA;VC=3UTR;Gene=MTF2/NM_001164393.1/0;CC=c.*105dupA;VC=3UTR;Gene=MTF2/NM_007358.3/0;CC=c.*105dupA;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,T,TA,D:19:0:7:1:1,13,4,1:10,342,206,26:0.08,0.00,9.84,1.48:0.00,0.00,0.00,0.00:0.08,0.00,9.84,1.48:0.00,0.00,0.70,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.70,0.00:60,60,60,60:33.0,14.2,34.0,0.0:0,1,3,0:0,0,0,0:24,121,109,73:120,27,42,78:0,25,21,0:-,NM_007358.3(MTF2) c.*105dupA:-,NOT_FOUND:-,NOT_FOUND 1 93620393 rs1060622 G A 83 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.5096,A/0.4904;PC=1.000;Gene=TMED5/NM_001167830.1/1;CC=c.573C>T;ProtCh=p.N191=;VC=Silent;Gene=TMED5/NM_016040.4/0;CC=c.524C>T;ProtCh=p.T175I;VC=Missense;Gene=TMED5/NR_030761.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:41:0:0:27,31:878,1038:83.25,0.00:43.80,0.00:39.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,3.4:0,0:0,0:84,67:62,72:28,33:NM_016040.4(TMED5) c.524C>T (p.Thr175Ile),-:0.51,-:0.470321,- 1 93620446 . C . . NT END=93621592;NT GT ./. 1 93621642 . C . . NT END=93621856;NT GT ./. 1 93622041 . C . . NT END=93624371;NT GT ./. 1 93624374 rs12130734 T C 33 sb VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3858,C/0.6142;Gene=TMED5/NM_001167830.1/1;CC=c.287+1312A>G;VC=Intron;Gene=TMED5/NM_016040.4/0;CC=c.287+1312A>G;VC=Intron;Gene=TMED5/NR_030761.1/0;VC=NonCoding;DM=TMED5/EMP24_GP25L;DM=TMED5/EMP24_GP25L GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:22:0:0:10,12:348,389:32.99,0.00:31.78,0.00:1.21,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:43.3,5.8:0,0:0,0:60,55:86,95:21,40:NM_016040.4(TMED5) c.287+1312A>G,-:0.62,-:NOT_FOUND,- 1 93624443 . C . . NT END=93625685;NT GT ./. 1 93625784 . C . . NT END=93645610;NT GT ./. 1 93635439 rs59467244 T TACACACACACACAC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9706,TAC/.,TACAC/.,TACACAACACACAC/0.02935,TACACAC/.;DB;DBA=NA;PAF=NA;NP=17;NP=2;NP=24;PC=0.674;Gene=TMED5/NM_001167830.1/1;CC=c.190-9657_190-9656insGTGTGTGTGTGTGT;VC=Intron;Gene=TMED5/NM_016040.4/0;CC=c.190-9657_190-9656insGTGTGTGTGTGTGT;VC=Intron;Gene=TMED5/NR_030761.1/0;VC=NonCoding;DM=TMED5/EMP24_GP25L;DM=TMED5/EMP24_GP25L;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TACACACACACACAC:4:4:2:0:2,2:64,68:0.00,6.55:0.00,4.76:0.00,1.79:0.00,0.94:0.00,0.94:0.00,0.67:60,60:9.0,48.0:0,0:0,0:126,43:22,97:17,13:-,NM_016040.4(TMED5) c.190-9657_190-9656insGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 93645800 . C . . NT END=93646087;NT GT ./. 1 93646207 rs2297707 T C 254 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=160;DB;DBA=NA;PAF=T/0.4848,C/0.5152;Gene=TMED5/NM_001167830.1/1;CC=c.-408A>G;VC=5UTR;Gene=TMED5/NM_016040.4/0;CC=c.-408A>G;VC=5UTR;Gene=TMED5/NR_030761.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:160:117:0:0:81,1,78:2632,11,2471:253.96,-0.12,0.00:143.21,-0.04,0.00:110.75,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,84.0,10.6:0,0,0:0,0,0:63,75,66:83,76,80:33,0,31:NM_016040.4(TMED5) c.-408A>G,-:0.54,-:0.530335,- 1 93646440 . G . . NT END=93648916;NT GT ./. 1 93646620 rs2815408 C T 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1144,T/0.8856;Gene=CCDC18/NM_001306076.1/1;CC=c.-3+181C>T;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.-3+181C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:0:0:0:17:540:62.10:0.00:62.10:1.00:0.00:1.00:60:35.4:0:0:112:39:25:NM_206886.3(CCDC18) c.-3+181C>T,NM_206886.3(CCDC18) c.-3+181C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 93648728 rs7535628 T C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3864,C/0.6136;Gene=CCDC18/NM_001306076.1/1;CC=c.-2-189T>C;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.-2-189T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,T:10:10:0:0:6,4:202,123:20.14,0.00:20.14,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:57.8,69.5:0,0:0,0:46,17:104,133:37,9:NM_206886.3(CCDC18) c.-2-189T>C,-:0.62,-:NOT_FOUND,- 1 93648816 rs2815409 A G 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.1144,G/0.8856;PC=0.004;Gene=CCDC18/NM_001306076.1/1;CC=c.-2-101A>G;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.-2-101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:20:0:0:22:700:80.43:68.58:11.85:1.00:1.00:1.00:60:46.1:0:0:60:90:24:NM_206886.3(CCDC18) c.-2-101A>G,NM_206886.3(CCDC18) c.-2-101A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 93649053 . G . . NT END=93649534;NT GT ./. 1 93649111 rs17131709 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.9159,A/0.08407;Gene=CCDC18/NM_001306076.1/1;CC=c.134+59G>A;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.134+59G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:10:0:0:15,19:471,629:44.12,0.00:9.35,0.00:34.77,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:37.0,7.7:0,0:0,0:96,119:53,30:18,16:NM_206886.3(CCDC18) c.134+59G>A,-:0.08,-:NOT_FOUND,- 1 93649704 . G . . NT END=93651901;NT GT ./. 1 93649732 rs6682670 A G 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.4842,G/0.5158;PC=0.379;Gene=CCDC18/NM_001306076.1/1;CC=c.303+29A>G;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.303+29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:24:8:0:0:14,1,9:453,13,301:0.00,0.26,27.70:0.00,-0.09,2.53:0.00,0.36,25.17:0.00,0.00,1.00:0.00,0.00,0.67:0.00,0.00,1.00:60,60,60:3.6,60.0,34.6:0,0,0:0,0,0:105,1,120:46,150,31:26,0,9:-,NM_206886.3(CCDC18) c.303+29A>G:-,0.54:-,0.527106 1 93652061 . G . . NT END=93657556;NT GT ./. 1 93656588 rs7541687 A G 12 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4842,G/0.5158;PC=0.587;Gene=CCDC18/NM_001306076.1/1;CC=c.463-969A>G;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.463-969A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:12:6:0:0:7,5:222,134:0.00,12.23:0.00,1.81:0.00,10.42:0.00,0.92:0.00,0.95:0.00,0.98:70,60:15.3,31.2:0,0:0,0:78,139:73,12:16,10:-,NM_206886.3(CCDC18) c.463-969A>G:-,0.54:-,NOT_FOUND 1 93656645 rs140378550 ATT A 8 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=74;PC=0.062;Gene=CCDC18/NM_001306076.1/1;CC=c.463-897_463-896delTT;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.463-897_463-896delTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:ATT,A:6:3:0:5:3,3:95,121:0.00,8.40:0.00,2.62:0.00,5.77:0.00,0.69:0.00,0.83:0.00,0.89:60,70:8.7,14.0:0,1:0,0:141,99:10,51:4,20:-,NM_206886.3(CCDC18) c.463-911_463-910delTT:-,NOT_FOUND:-,NOT_FOUND 1 93657664 . G . . NT END=93659172;NT GT ./. 1 93659302 . G . . NT END=93667448;NT GT ./. 1 93659350 rs2815411 A T 122 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.1148,T/0.8852;PC=0.002;Gene=CCDC18/NM_001306076.1/1;CC=c.698+49A>T;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.698+49A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:8:0:0:33:1058:121.52:20.67:100.85:1.00:1.00:1.00:60:35.9:0:0:115:35:27:NM_206886.3(CCDC18) c.698+49A>T,NM_206886.3(CCDC18) c.698+49A>T:0.86,0.86:0.817714,0.817714 1 93667241 rs200141605 G GTTATA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1548,GTTATA/0.8452;DB;DBA=NA;PAF=NA;NP=282;PC=0.001;Gene=CCDC18/NM_001306076.1/1;CC=c.699-206_699-205insATATT;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.699-206_699-205insATATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GTTATA:4:4:4:0:4:128:14.71:14.71:0.00:1.00:1.00:0.00:60:7.5:0:0:44:105:13:NM_206886.3(CCDC18) c.699-208_699-207insTTATA,NM_206886.3(CCDC18) c.699-208_699-207insTTATA:0.83,0.83:NOT_FOUND,NOT_FOUND 1 93667546 . G . . NT END=93671066;NT GT ./. 1 93671189 . G . . NT END=93672663;NT GT ./. 1 93672688 rs2783499 C T 75 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.7678,T/0.2322;PC=0.315;Gene=CCDC18/NM_001306076.1/1;CC=c.942C>T;ProtCh=p.N314=;VC=Silent;Gene=CCDC18/NM_206886.4/0;CC=c.942C>T;ProtCh=p.N314=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:41:0:0:28,24:879,793:0.00,75.21:0.00,53.69:0.00,21.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.9,65.8:0,0:0,0:76,51:75,94:31,26:-,NM_206886.3(CCDC18) c.942C>T (p.(=)):-,0.21:-,0.169911 1 93672723 rs2815413 A C 214 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.252,C/0.748;PC=1.000;Gene=CCDC18/NM_001306076.1/1;CC=c.977A>C;ProtCh=p.N326T;VC=Missense;Gene=CCDC18/NM_206886.4/0;CC=c.977A>C;ProtCh=p.N326T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:C:56:42:0:0:56:1876:214.29:134.07:80.22:1.00:1.00:1.00:60:51.2:0:0:69:81:32:NM_206886.3(CCDC18) c.977A>C (p.Asn326Thr),NM_206886.3(CCDC18) c.977A>C (p.Asn326Thr):0.75,0.75:0.698543,0.698543 1 93672956 . G . . NT END=93676358;NT GT ./. 1 93676314 rs555161 A G 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4842,G/0.5158;PC=0.006;Gene=CCDC18/NM_001306076.1/1;CC=c.1210-45A>G;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.1210-45A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:41:0:0:32,14:1076,435:0.00,37.90:0.00,25.70:0.00,12.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,48.3:0,0:0,0:69,54:77,89:25,29:-,NM_206886.3(CCDC18) c.1210-45A>G:-,0.54:-,0.528097 1 93676484 . G . . NT END=93677657;NT GT ./. 1 93676578 rs797676 A G 73 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.5102,G/0.4898;PC=0.023;Gene=CCDC18/NM_001306076.1/1;CC=c.1334+95A>G;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.1334+95A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:13:0:0:16,22:503,739:0.00,73.14:0.00,18.15:0.00,54.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,33.6:0,0:0,0:101,108:49,42:34,30:-,NM_206886.3(CCDC18) c.1334+95A>G:-,0.51:-,NOT_FOUND 1 93677819 . G . . NT END=93680299;NT GT ./. 1 93680524 . G . . NT END=93682192;NT GT ./. 1 93680736 rs581825 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.252,A/0.748;Gene=CCDC18/NM_001306076.1/1;CC=c.1716+213G>A;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.1719+213G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:37.8:0:0:102:49:17:NM_206886.3(CCDC18) c.1719+213G>A,NM_206886.3(CCDC18) c.1719+213G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 1 93682304 . G . . NT END=93683294;NT GT ./. 1 93683210 rs624131 A G 57 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.4918,G/0.5082;PC=0.015;Gene=CCDC18/NM_001306076.1/1;CC=c.1828-85A>G;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.1831-85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:31:0:0:16,18:502,586:0.00,56.96:0.00,44.92:0.00,12.05:0.00,1.00:0.00,1.00:0.00,0.99:60,60:5.6,37.7:0,0:0,0:37,48:113,100:17,23:-,NM_206886.3(CCDC18) c.1831-85A>G:-,0.49:-,NOT_FOUND 1 93683427 . G . . NT END=93687165;NT GT ./. 1 93687091 rs797661 G T 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5156,T/0.4844;Gene=CCDC18/NM_001306076.1/1;CC=c.1960-75G>T;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.1963-75G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:26:24:0:0:1,11,14:35,356,426:2.37,0.00,41.80:2.40,0.00,32.89:-0.03,0.00,8.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:35.0,10.8,35.1:0,0,0:0,0,0:61,46,71:89,104,79:0,32,46:-,NM_206886.3(CCDC18) c.1963-75G>T:-,0.46:-,NOT_FOUND 1 93687301 . G . . NT END=93687415;NT GT ./. 1 93687494 . G . . NT END=93691889;NT GT ./. 1 93687528 rs113139948 C CT 16 rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=22;PC=0.006;Gene=CCDC18/NM_001306076.1/1;CC=c.2172+49_2172+50insT;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.2175+49_2175+50insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,CT,D:25:13:7:1:18,6,1:572,218,31:0.00,16.09,1.86:0.00,5.51,0.99:0.00,10.59,0.87:0.00,0.91,0.00:0.00,0.58,0.00:0.00,0.99,0.00:60,60,60:12.3,31.8,11.0:1,1,0:0,0,0:122,82,81:15,68,70:14,34,0:-,NM_206886.3(CCDC18) c.2175+35_2175+36insT:-,NOT_FOUND:-,NOT_FOUND 1 93691734 rs61799496 A G 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7678,G/0.2322;PC=0.662;Gene=CCDC18/NM_001306076.1/1;CC=c.2173-156A>G;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.2176-156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,G:9:9:0:0:5,4:156,136:0.00,12.82:0.00,12.82:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,71.5:0,0:0,0:46,52:105,97:34,30:-,NM_206886.3(CCDC18) c.2176-156A>G:-,0.21:-,NOT_FOUND 1 93691766 rs72717339 T C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9966,C/0.003395;NP=27;PC=0.586;Gene=CCDC18/NM_001306076.1/1;CC=c.2173-124T>C;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.2176-124T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:11:11:0:0:5,6:160,184:15.09,0.00:15.09,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:68.4,0.0:0,0:0,0:60,63:91,88:49,30:NM_206886.3(CCDC18) c.2176-124T>C,-:0.01,-:NOT_FOUND,- 1 93692007 . G . . NT END=93697982;NT GT ./. 1 93698151 . G . . NT END=93701804;NT GT ./. 1 93701948 . G . . NT END=93704866;NT GT ./. 1 93702119 rs797672 A T 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.516,T/0.484;PC=0.141;Gene=CCDC18/NM_001306076.1/1;CC=c.2600+172A>T;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.2603+172A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,T:7:0:0:0:4,3:128,101:0.00,9.46:0.00,0.00:0.00,9.46:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,33.7:0,0:0,0:122,113:28,37:15,20:-,NM_206886.3(CCDC18) c.2603+172A>T:-,0.46:-,NOT_FOUND 1 93704726 rs5776175 T TA 12 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7682,TA/0.2318;DB;DBA=NA;PAF=T/0.7682,TA/0.2318;NP=322;PC=0.011;Gene=CCDC18/NM_001306076.1/1;CC=c.2601-136dupA;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.2604-136dupA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,T,TA:11:11:4:0:2,5,4:34,165,124:2.48,0.00,11.57:2.48,0.00,11.57:0.00,0.00,0.00:0.00,0.00,0.82:0.00,0.00,0.82:0.00,0.00,0.00:60,60,60:66.5,15.4,5.0:1,0,0:0,0,0:25,90,55:124,61,84:23,18,11:-,NM_206886.3(CCDC18) c.2604-141_2604-140insA:-,0.21:-,NOT_FOUND 1 93704793 rs5776176 CT C 19 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1698;PC=0.016;Gene=CCDC18/NM_001306076.1/1;CC=c.2601-65delT;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.2604-65delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:15:15:0:8:8,7:273,202:0.00,19.01:0.00,15.61:0.00,3.40:0.00,0.99:0.00,0.99:0.00,0.76:60,60:23.2,28.1:0,0:0,0:41,66:105,81:24,20:-,NM_206886.3(CCDC18) c.2604-73delT:-,NOT_FOUND:-,NOT_FOUND 1 93705031 . G . . NT END=93705239;NT GT ./. 1 93705454 . G . . NT END=93711661;NT GT ./. 1 93711762 . G . . NT END=93712394;NT GT ./. 1 93711782 rs3754186 T A 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.5577,A/0.4423;PC=0.009;Gene=CCDC18/NM_001306076.1/1;CC=c.3078+21T>A;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.3081+21T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:13:0:0:14,10:453,336:44.90,0.00:9.55,0.00:35.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,0.0:0,0:0,0:97,109:45,40:23,20:NM_206886.3(CCDC18) c.3081+21T>A,-:0.45,-:0.385527,- 1 93712512 . G . . NT END=93720027;NT GT ./. 1 93720070 rs12030843 C G 87 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.7678,G/0.2322;PC=1.000;Gene=CCDC18/NM_001306076.1/1;CC=c.3238C>G;ProtCh=p.L1080V;VC=Missense;Gene=CCDC18/NM_206886.4/0;CC=c.3241C>G;ProtCh=p.L1081V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:55:41:0:0:27,28:918,902:0.00,86.98:0.00,48.91:0.00,38.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,37.3:0,0:0,0:65,70:81,80:29,28:-,NM_206886.3(CCDC18) c.3241C>G (p.Leu1081Val):-,0.21:-,0.170175 1 93720172 . G . . NT END=93721891;NT GT ./. 1 93722096 . G . . NT END=93724304;NT GT ./. 1 93724443 . G . . NT END=93730257;NT GT ./. 1 93730459 . G . . NT END=93735903;NT GT ./. 1 93736555 rs2296558 C T 93 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.4918,T/0.5082;PC=0.067;Gene=CCDC18/NM_001306076.1/1;CC=c.4350+184C>T;VC=Intron;Gene=CCDC18/NM_206886.4/0;CC=c.3885+6097C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:53:0:0:44,32:1363,1001:0.00,92.86:0.00,41.20:0.00,51.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,46.0:0,0:0,0:53,79:98,68:38,32:-,NM_206886.3(CCDC18) c.3885+6097C>T:-,0.49:-,NOT_FOUND 1 93737145 . t . . NT END=93744019;NT GT ./. 1 93744035 . T . . NT END=93812202;NT GT ./. 1 93784901 rs569414 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4862,A/0.5138;PC=0.004;Gene=CCDC18-AS1/NR_034089.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:A,G:12:6:0:0:5,7:166,162:15.47,0.00:2.53,0.00:12.93,0.00:0.92,0.00:0.95,0.00:0.98,0.00:60,60:50.0,44.9:0,0:0,0:28,79:77,61:13,22:NR_034089.1(LOC100131564) n.2533+5291C>T,-:0.54,-:NOT_FOUND,- 1 93784931 rs61423564 T TTG 18 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4788,TTG/0.5212,TTGTG/.;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=173;PC=0.420;Gene=CCDC18-AS1/NR_034089.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:T,TTG,D:12:8:8:1:5,6,1:89,248,27:0.00,17.89,1.88:0.00,7.14,-0.09:0.00,10.75,1.97:0.00,0.96,0.00:0.00,0.98,0.00:0.00,0.99,0.00:60,60,60:61.6,28.8,57.0:0,2,0:0,0,0:109,30,46:31,98,105:3,16,0:-,NR_034089.1(LOC100131564) n.2533+5260_2533+5261insCA:-,NOT_FOUND:-,NOT_FOUND 1 93812423 . G . . NT END=93819464;NT GT ./. 1 93819629 . G . . NT END=93826049;NT GT ./. 1 93826178 rs3088371 A T 120 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.9265,T/0.07348;PC=0.498;Gene=DR1/NM_001938.2/1;CC=c.513A>T;ProtCh=p.E171D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:84:46:0:0:46,38:1465,1267:0.00,119.75:0.00,40.23:0.00,79.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,34.7:0,0:0,0:89,89:61,57:33,37:-,NM_001938.2(DR1) c.513A>T (p.Glu171Asp):-,0.07:-,0.078579 1 93826197 . A . . NT END=93913838;NT GT ./. 1 93850283 rs12133907 C A 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5064,A/0.4936;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,C:6:4:0:0:3,3:95,97:9.12,0.00:0.83,0.00:8.29,0.00:0.73,0.00:0.94,0.00:0.89,0.00:60,60:31.7,0.0:0,0:0,0:45,24:106,125:28,13:chr1 g.93850282C>A (intergenic),-:0.51,-:NOT_FOUND,- 1 93913863 . G . . NT END=93965024;NT GT ./. 1 93925498 . ATG A 10 sb,rn VT=DEL;SST=Single;DP=6;NP=6;PC=0.014;Gene=FNBP1L/NM_001024948.2/0;CC=c.24+11672_24+11673delGT;VC=Intron;Gene=FNBP1L/NM_001164473.2/1;CC=c.24+11672_24+11673delGT;VC=Intron;Gene=FNBP1L/NM_017737.4/0;CC=c.24+11672_24+11673delGT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:ATG,A:6:2:0:4:2,4:60,100:0.00,10.24:0.00,1.22:0.00,9.02:0.00,0.93:0.00,0.91:0.00,0.99:60,60:30.0,30.2:0,0:0,0:90,93:61,56:38,2:-,NM_001164473.2(FNBP1L) c.24+11637_24+11638delTG:-,NOT_FOUND:-,NOT_FOUND 1 93965141 . G . . NT END=93987638;NT GT ./. 1 93987693 . G . . NT END=93988900;NT GT ./. 1 93987902 rs2818968 G A 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.04153,A/0.9585;PC=0.005;Gene=FNBP1L/NM_001024948.2/0;CC=c.194+210G>A;VC=Intron;Gene=FNBP1L/NM_001164473.2/1;CC=c.194+210G>A;VC=Intron;Gene=FNBP1L/NM_017737.4/0;CC=c.194+210G>A;VC=Intron;DM=FNBP1L/FCH;DM=FNBP1L/FCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:250:28.81:0.00:28.81:1.00:0.00:1.00:60:34.8:0:0:68:82:26:NM_001164473.2(FNBP1L) c.194+210G>A,NM_001164473.2(FNBP1L) c.194+210G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 93989049 . G . . NT END=93989817;NT GT ./. 1 93989881 . G . . NT END=93995208;NT GT ./. 1 93995314 . G . . NT END=93996311;NT GT ./. 1 93996441 . G . . NT END=93998478;NT GT ./. 1 93996694 rs1079750 T C 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9341,C/0.06589;PC=0.377;Gene=FNBP1L/NM_001024948.2/0;CC=c.639+254T>C;VC=Intron;Gene=FNBP1L/NM_001164473.2/1;CC=c.639+254T>C;VC=Intron;Gene=FNBP1L/NM_017737.4/0;CC=c.639+254T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:C,T:4:0:0:0:2,2:71,39:6.88,0.00:0.00,0.00:6.88,0.00:0.94,0.00:0.00,0.00:0.94,0.00:60,60:50.5,22.5:0,0:0,0:63,72:87,78:44,53:NM_001164473.2(FNBP1L) c.639+254T>C,-:0.06,-:NOT_FOUND,- 1 93998626 . G . . NT END=94000261;NT GT ./. 1 93998819 rs10541830 TA T 8 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=10;PC=0.003;Gene=FNBP1L/NM_001024948.2/0;CC=c.786+208delA;VC=Intron;Gene=FNBP1L/NM_001164473.2/1;CC=c.786+208delA;VC=Intron;Gene=FNBP1L/NM_017737.4/0;CC=c.786+208delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:TA,T:12:0:0:4:9,3:220,122:0.00,7.72:0.00,0.00:0.00,7.72:0.00,0.58:0.00,0.00:0.00,0.58:60,70:44.6,18.0:0,1:0,0:109,120:42,31:33,5:-,NM_001164473.2(FNBP1L) c.786+195delA:-,NOT_FOUND:-,NOT_FOUND 1 94000466 . G . . NT END=94001888;NT GT ./. 1 94002048 . G . . NT END=94006598;NT GT ./. 1 94006614 . G . . NT END=94009663;NT GT ./. 1 94009774 . G . . NT END=94012398;NT GT ./. 1 94009830 rs12409932 C T 32 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9345,T/0.0655;Gene=FNBP1L/NM_001024948.2/0;CC=c.1100+57C>T;VC=Intron;Gene=FNBP1L/NM_001164473.2/1;CC=c.1274+57C>T;VC=Intron;Gene=FNBP1L/NM_017737.4/0;CC=c.1100+57C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:4:0:0:9,10:282,333:0.00,32.36:0.00,1.15:0.00,31.21:0.00,1.00:0.00,0.95:0.00,1.00:60,60:1.1,35.3:0,0:0,0:135,126:16,18:7,14:-,NM_001164473.2(FNBP1L) c.1274+57C>T:-,0.06:-,NOT_FOUND 1 94012287 rs237425 G A 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.1144,A/0.8856;PC=0.001;Gene=FNBP1L/NM_001024948.2/0;CC=c.1101-112G>A;VC=Intron;Gene=FNBP1L/NM_001164473.2/1;CC=c.1275-112G>A;VC=Intron;Gene=FNBP1L/NM_017737.4/0;CC=c.1101-112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:20:0:0:20:620:71.44:67.61:3.83:1.00:1.00:1.00:60:46.4:0:0:66:85:45:NM_001164473.2(FNBP1L) c.1275-112G>A,NM_001164473.2(FNBP1L) c.1275-112G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 94012532 . G . . NT END=94012903;NT GT ./. 1 94012999 . G . . NT END=94014834;NT GT ./. 1 94014984 . G . . NT END=94016503;NT GT ./. 1 94017974 . A . . NT END=94027797;NT GT ./. 1 94027977 . C . . NT END=94032835;NT GT ./. 1 94033049 . C . . NT END=94033296;NT GT ./. 1 94033409 . C . . NT END=94037226;NT GT ./. 1 94037399 . C . . NT END=94041570;NT GT ./. 1 94041687 . C . . NT END=94047857;NT GT ./. 1 94041787 rs397744522 G GAC 21 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.07388,GAC/0.9261;DB;DBA=NA;PAF=G/0.07388,GAC/0.9261;NP=2875;Gene=BCAR3/NM_001308251.1/0;CC=c.715-103_715-102dupGT;VC=Intron;Gene=BCAR3/NM_001261410.1/0;CC=c.1414-103_1414-102dupGT;VC=Intron;Gene=BCAR3/NM_001261409.1/0;CC=c.1687-103_1687-102dupGT;VC=Intron;Gene=BCAR3/NM_003567.3/0;CC=c.1687-103_1687-102dupGT;VC=Intron;Gene=BCAR3/NM_001261408.1/1;CC=c.1687-103_1687-102dupGT;VC=Intron;DM=BCAR3/RasGEF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GAC:18:0:8:0:10,8:330,222:0.00,20.64:0.00,0.00:0.00,20.64:0.00,0.99:0.00,0.00:0.00,0.99:60,70:10.4,0.0:0,0:0,0:131,80:19,71:15,48:-,NM_001261408.1(BCAR3) c.1687-102_1687-101insGT:-,0.93:-,NOT_FOUND 1 94048511 . C . . NT END=94049574;NT GT ./. 1 94049679 . C . . NT END=94050528;NT GT ./. 1 94050720 . G . . NT END=94054533;NT GT ./. 1 94054977 . C . . NT END=94057821;NT GT ./. 1 94057951 . C . . NT END=94079403;NT GT ./. 1 94079703 . T . . NT END=94107859;NT GT ./. 1 94107900 . C . . NT END=94140169;NT GT ./. 1 94140487 . A . . NT END=94336238;NT GT ./. 1 94219099 rs540929794 TACAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.006;Gene=BCAR3/NM_001261408.1/1;CC=c.-62-47405_-62-47402delGTGT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:TACAC,T:4:3:0:2:2,2:61,66:0.00,6.35:0.00,1.29:0.00,5.06:0.00,0.94:0.00,0.89:0.00,0.89:60,60:46.5,0.0:0,0:0,0:129,66:21,65:12,23:-,XR_132800.1(LOC100132240) n.124GT[22]:-,NOT_FOUND:-,NOT_FOUND 1 94242913 rs528485323 CTCCTCT C 9 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.002;Gene=BCAR3/NM_001261408.1/1;CC=c.-63+68204_-63+68209delAGAGGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CTCCTCT,C:9:9:0:3:6,3:167,100:0.00,8.95:0.00,9.12:0.00,-0.18:0.00,0.64:0.00,0.64:0.00,0.63:60,60:20.7,69.0:0,0:0,0:31,88:115,59:10,28:-,NM_001261408.1(BCAR3) c.-63+68204_-63+68209delAGAGGA:-,NOT_FOUND:-,NOT_FOUND 1 94242931 . C T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;NP=1;Gene=BCAR3/NM_001261408.1/1;CC=c.-63+68192G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:9:9:0:0:6,3:177,104:0.00,9.35:0.00,9.52:0.00,-0.18:0.00,0.64:0.00,0.64:0.00,0.63:60,60:20.2,69.0:0,0:0,0:49,100:97,47:10,28:-,NM_001261408.1(BCAR3) c.-63+68192G>A:-,NOT_FOUND:-,NOT_FOUND 1 94242969 rs58306702 C CCTCCTCCTT 8 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=BCAR3/NM_001261408.1/1;CC=c.-63+68153_-63+68154insAAGGAGGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,CCTCCTCCTT:10:11:4:0:7,3:218,119:0.00,7.77:0.00,5.24:0.00,2.54:0.00,0.60:0.00,0.60:0.00,0.83:60,70:24.3,43.7:0,1:0,0:74,23:70,107:20,4:-,NM_001261408.1(BCAR3) c.-63+68153_-63+68154insAAGGAGGAG:-,NOT_FOUND:-,NOT_FOUND 1 94313349 rs55958625 T TTTC 18 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4585,TTTC/0.5415;DB;DBA=NA;PAF=T/0.4585,TTTC/0.5415;DB;DBA=NA;PAF=T/0.4585,TTTC/0.5415;NP=457;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TTTC:5:5:5:0:5:153:17.68:15.85:1.84:1.00:1.00:1.00:60:40.4:0:0:24:127:18:NM_001261408.1(BCAR3) c.-289-u644_-289-u643insGAA,NM_001261408.1(BCAR3) c.-289-u644_-289-u643insGAA:0.5,0.5:NOT_FOUND,NOT_FOUND 1 94313364 rs61782449 G T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9191,T/0.08087 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,T:5:5:0:0:1,4:36,137:0.00,14.52:0.00,10.94:0.00,3.58:0.00,0.96:0.00,0.96:0.00,0.99:60,60:0.0,50.5:0,0:0,0:20,56:124,94:0,23:-,NM_001261408.1(BCAR3) c.-289-u658C>A:-,0.08:-,NOT_FOUND 1 94336349 . C . . NT END=94337627;NT GT ./. 1 94336528 rs71588507 TTA T 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TTA/0.9914,T/0.008586;DB;DBA=NA;PAF=TTA/0.9914,T/0.008586;NP=5;PC=0.001;Gene=DNTTIP2/NM_014597.4/1;CC=c.2068-182_2068-181delTA;VC=Intron;DM=DNTTIP2/Fcf2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TTA,T:5:0:0:3:2,3:67,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:15.5,7.7:0,0:0,0:93,110:57,40:33,13:-,NM_014597.4(DNTTIP2) c.2068-182_2068-181delTA:-,0.01:-,NOT_FOUND 1 94337486 rs72723175 T C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.9972,C/0.002796;NP=55;Gene=DNTTIP2/NM_014597.4/1;CC=c.2067+142A>G;VC=Intron;DM=DNTTIP2/Fcf2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:13,10:405,308:39.86,0.00:39.86,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:66.3,22.4:0,0:0,0:42,46:108,104:28,26:NM_014597.4(DNTTIP2) c.2067+142A>G,-:0.01,-:NOT_FOUND,- 1 94337499 rs61782458 G C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9006,C/0.09944;PC=0.001;Gene=DNTTIP2/NM_014597.4/1;CC=c.2067+129C>G;VC=Intron;DM=DNTTIP2/Fcf2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:23:0:0:13,10:404,319:39.74,0.00:39.74,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:66.2,22.4:0,0:0,0:51,59:97,91:32,26:NM_014597.4(DNTTIP2) c.2067+129C>G,-:0.1,-:NOT_FOUND,- 1 94337793 . C . . NT END=94338674;NT GT ./. 1 94338771 . C . . NT END=94341200;NT GT ./. 1 94341137 rs2273166 C T 94 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.5535,T/0.4465;Gene=DNTTIP2/NM_014597.4/1;CC=c.1806+64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:22:0:0:25:818:93.68:79.98:13.70:1.00:1.00:1.00:60:47.0:0:0:67:83:21:NM_014597.4(DNTTIP2) c.1806+64G>A,NM_014597.4(DNTTIP2) c.1806+64G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 94341267 rs2273165 A G 222 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.4663,G/0.5337;PC=1.000;Gene=DNTTIP2/NM_014597.4/1;CC=c.1740T>C;ProtCh=p.F580=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G:60:48:0:0:60:1935:222.01:147.93:74.08:1.00:1.00:1.00:60:34.6:0:0:73:76:30:NM_014597.4(DNTTIP2) c.1740T>C (p.(=)),NM_014597.4(DNTTIP2) c.1740T>C (p.(=)):0.5,0.5:0.455496,0.455496 1 94341340 . C . . NT END=94341823;NT GT ./. 1 94342564 rs3747965 C A 115 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.6552,A/0.3448;Gene=DNTTIP2/NM_014597.4/1;CC=c.927G>T;ProtCh=p.E309D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:85:57:0:0:39,46:1218,1470:114.90,0.00:54.99,0.00:59.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.5,12.2:0,0:0,0:80,67:71,82:34,33:NM_014597.4(DNTTIP2) c.927G>T (p.Glu309Asp),-:0.34,-:0.274526,- 1 94343023 rs2391322 A G 166 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=A/0.5631,G/0.4369;PC=0.004;Gene=DNTTIP2/NM_014597.4/1;CC=c.468T>C;ProtCh=p.P156=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:134:78:0:0:77,57:2440,1782:0.00,165.67:0.00,73.17:0.00,92.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,35.9:0,0:0,0:62,91:88,57:41,37:-,NM_014597.4(DNTTIP2) c.468T>C (p.(=)):-,0.41:-,0.364434 1 94343233 rs3789457 T C 385 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.2408,C/0.7592;PC=0.089;Gene=DNTTIP2/NM_014597.4/1;CC=c.258A>G;ProtCh=p.E86=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:101:63:0:0:99,2:3382,22:384.54,0.45:185.17,0.27:199.38,0.18:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,44.5:0,0:0,0:78,120:72,31:33,2:NM_014597.4(DNTTIP2) c.258A>G (p.(=)),NM_014597.4(DNTTIP2) c.258A>G (p.(=)):0.76,0.76:0.725601,0.725601 1 94343419 . C . . NT END=94344632;NT GT ./. 1 94344580 rs6675820 C A 86 nt VT=SNV;PN=G;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.6703,A/0.3297;Gene=DNTTIP2/NM_014597.4/1;CC=c.72+53G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:72:65:0:0:30,42:925,1381:85.53,0.00:69.26,0.00:16.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,12.8:0,0:0,0:41,52:102,96:23,32:NM_014597.4(DNTTIP2) c.72+53G>T,-:0.35,-:0.369251,- 1 94344716 rs2235971 C T 289 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=181;DB;DBA=NA;PAF=C/0.6518,T/0.3482;Gene=DNTTIP2/NM_014597.4/1;CC=c.-12G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:181:143:0:0:87,1,93:2731,5,2985:0.00,-0.21,288.60:0.00,-0.14,163.58:0.00,-0.08,125.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.0,65.0,44.9:0,0,0:0,0,0:61,73,74:86,34,76:30,0,35:-,NM_014597.4(DNTTIP2) c.-12G>A:-,0.34:-,0.273731 1 94344860 rs41292665 G T 317 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=200;DB;DBA=NA;PAF=G/0.9153,T/0.08466 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:200:116:0:0:91,109:2983,3250:0.00,316.94:0.00,127.93:0.00,189.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,37.9:0,0:0,0:87,66:63,84:32,33:-,NM_014597.4(DNTTIP2) c.-58-u98C>A:-,0.08:-,NOT_FOUND 1 94345137 rs2235970 G A 187 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.4145,A/0.5855;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:72:0:0:60,55:1932,1756:187.28,0.00:96.96,0.00:90.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,8.9:0,0:0,0:80,85:69,66:44,38:NM_014597.4(DNTTIP2) c.-58-u375C>T,-:0.61,-:NOT_FOUND,- 1 94345417 . T . . NT END=94354545;NT GT ./. 1 94345619 rs61782162 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9347,C/0.0653 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:C,T:12:0:0:0:7,5:230,158:22.80,0.00:0.00,0.00:22.80,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:43.3,6.6:0,0:0,0:110,134:41,17:23,14:NM_014597.4(DNTTIP2) c.-58-u857A>G,-:0.07,-:NOT_FOUND,- 1 94354716 . C . . NT END=94360169;NT GT ./. 1 94354948 rs10874809 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5793,C/0.4207;Gene=GCLM/NM_001308253.1/0;CC=c.590-233A>G;VC=Intron;Gene=GCLM/NM_002061.3/1;CC=c.656-233A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:9:0:0:0:5,4:162,134:15.90,0.00:0.00,0.00:15.90,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:54.6,0.0:0,0:0,0:117,86:30,64:16,15:NM_002061.2(GCLM) c.656-233A>G,-:0.42,-:NOT_FOUND,- 1 94360285 . C . . NT END=94362173;NT GT ./. 1 94362377 . C . . NT END=94363394;NT GT ./. 1 94363455 . C . . NT END=94367140;NT GT ./. 1 94367097 rs7515191 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5793,A/0.4207;Gene=GCLM/NM_001308253.1/0;CC=c.211+44C>T;VC=Intron;Gene=GCLM/NM_002061.3/1;CC=c.277+44C>T;VC=Intron;DM=GCLM/Aldo_ket_red GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:22:0:0:11,12:354,366:33.76,0.00:29.53,0.00:4.24,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:54.1,0.5:0,0:0,0:54,20:96,130:29,16:NM_002061.2(GCLM) c.277+44C>T,-:0.42,-:0.461917,- 1 94367226 . C . . NT END=94370078;NT GT ./. 1 94367481 rs17886352 G C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9345,C/0.0655;Gene=GCLM/NM_001308253.1/0;CC=c.127-256C>G;VC=Intron;Gene=GCLM/NM_002061.3/1;CC=c.193-256C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,G:7:1:0:0:6,1:177,35:19.27,0.00:3.81,0.00:15.46,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:42.5,0.0:0,0:0,0:127,109:24,42:15,0:NM_002061.2(GCLM) c.193-256C>G,-:0.07,-:NOT_FOUND,- 1 94370145 . C . . NT END=94374593;NT GT ./. 1 94374862 . C . . NT END=94458792;NT GT ./. 1 94458799 . C . . NT END=94461664;NT GT ./. 1 94461752 . C . . NT END=94463416;NT GT ./. 1 94463667 . C . . NT END=94466391;NT GT ./. 1 94466485 . C . . NT END=94466557;NT GT ./. 1 94466662 . C . . NT END=94467413;NT GT ./. 1 94467549 . C . . NT END=94470996;NT GT ./. 1 94471075 rs1762114 A G 301 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.23,G/0.77;Gene=ABCA4/NM_000350.2/1;CC=c.6069T>C;ProtCh=p.I2023=;VC=Silent;DM=ABCA4/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:81:55:0:0:81:2628:301.39:138.93:162.46:1.00:1.00:1.00:60:38.7:0:0:73:75:32:NM_000350.2(ABCA4) c.6069T>C (p.(=)),NM_000350.2(ABCA4) c.6069T>C (p.(=)):0.8,0.8:0.775719,0.775719 1 94471139 . C . . NT END=94473189;NT GT ./. 1 94473297 . C . . NT END=94473790;NT GT ./. 1 94473854 . C . . NT END=94474306;NT GT ./. 1 94474020 rs1191234 G A 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1088,A/0.8912;Gene=ABCA4/NM_000350.2/1;CC=c.5836-167C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:5:0:0:12:381:43.80:18.18:25.62:1.00:1.00:1.00:60:37.6:0:0:78:73:40:NM_000350.2(ABCA4) c.5836-167C>T,NM_000350.2(ABCA4) c.5836-167C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 1 94474428 . C . . NT END=94476355;NT GT ./. 1 94476486 . C . . NT END=94476817;NT GT ./. 1 94476555 rs537831 G A 410 nt VT=SNV;PN=A;NN=G;SST=Single;DP=111;DB;DBA=in-clinvar;PAF=G/0.3085,A/0.6915;Gene=ABCA4/NM_000350.2/1;CC=c.5585-70C>T;VC=Intron;DM=ABCA4/ABC2_membrane_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:111:49:0:0:110,1:3601,22:410.06,0.00:127.18,0.00:282.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,171.0:0,0:0,0:94,130:50,21:33,0:NM_000350.2(ABCA4) c.5585-70C>T,NM_000350.2(ABCA4) c.5585-70C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 1 94476942 . C . . NT END=94480098;NT GT ./. 1 94477232 rs565155 T G 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.09545,G/0.9046;Gene=ABCA4/NM_000350.2/1;CC=c.5461-291A>C;VC=Intron;DM=ABCA4/ABC2_membrane_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:285:32.75:0.00:32.75:1.00:0.00:1.00:60:43.4:0:0:93:58:49:NM_000350.2(ABCA4) c.5461-291A>C,NM_000350.2(ABCA4) c.5461-291A>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 94480247 . C . . NT END=94481294;NT GT ./. 1 94481245 . A C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;PC=0.001;Gene=ABCA4/NM_000350.2/1;CC=c.5312+50T>G;VC=Intron;DM=ABCA4/ABC2_membrane_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,C:27:25:0:0:22,5:478,98:0.00,6.62:0.00,6.80:0.00,-0.18:0.00,0.82:0.00,0.98:0.00,0.45:60,60:32.1,105.6:0,0:0,0:28,73:114,78:22,41:-,NM_000350.2(ABCA4) c.5312+50T>G:-,NOT_FOUND:-,NOT_FOUND 1 94481411 . C . . NT END=94485137;NT GT ./. 1 94485316 . C . . NT END=94486795;NT GT ./. 1 94486966 . C . . NT END=94487195;NT GT ./. 1 94487271 . C . . NT END=94487401;NT GT ./. 1 94487285 rs55860151 AAC A 112 nt VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=AAC/0.776,A/0.224;DB;DBA=NA;PAF=AAC/0.776,A/0.224;NP=1177;Gene=ABCA4/NM_000350.2/1;CC=c.4774-17_4774-16delGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,G,A:72:49:0:37:35,1,36:1094,13,1165:0.00,0.04,112.34:0.00,0.15,74.30:0.00,-0.11,38.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:26.2,57.0,6.4:0,0,0:0,0,0:99,147,83:49,3,67:34,0,44:-,NM_000350.2(ABCA4) c.4774-17_4774-16delGT:-,0.23:-,0.149089 1 94487354 rs472908 G A 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=in-clinvar;PAF=G/0.4111,A/0.5889;Gene=ABCA4/NM_000350.2/1;CC=c.4773+48C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:39:0:0:32,32:1011,1012:97.12,0.00:49.74,0.00:47.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,9.4:0,0:0,0:66,86:83,64:46,18:NM_000350.2(ABCA4) c.4773+48C>T,-:0.58,-:0.630231,- 1 94487508 . C . . NT END=94488941;NT GT ./. 1 94488975 . C . . NT END=94490509;NT GT ./. 1 94490605 . C . . NT END=94495000;NT GT ./. 1 94495188 . C . . NT END=94495983;NT GT ./. 1 94495930 rs547806 T C 152 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.01178,C/0.9882;Gene=ABCA4/NM_000350.2/1;CC=c.4352+54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:40:0:0:40:1326:151.66:132.28:19.38:1.00:1.00:1.00:60:38.2:0:0:53:96:32:NM_000350.2(ABCA4) c.4352+54A>G,NM_000350.2(ABCA4) c.4352+54A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 94496083 . C . . NT END=94496551;NT GT ./. 1 94496677 . C . . NT END=94497333;NT GT ./. 1 94497600 . C . . NT END=94502295;NT GT ./. 1 94502345 . C . . NT END=94502700;NT GT ./. 1 94502907 . C . . NT END=94505598;NT GT ./. 1 94505684 . C . . NT END=94506764;NT GT ./. 1 94506959 . C . . NT END=94508316;NT GT ./. 1 94507069 rs570065810 TA T 51 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1384;PC=0.019;Gene=ABCA4/NM_000350.2/1;CC=c.3329-112delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:TA,T:20:1:0:17:4,16:121,500:0.00,50.64:0.00,-0.31:0.00,50.95:0.00,1.00:0.00,0.84:0.00,1.00:60,60:4.2,7.9:0,1:0,0:128,71:22,79:21,37:-,NM_000350.2(ABCA4) c.3329-112delT:-,NOT_FOUND:-,NOT_FOUND 1 94508455 . C . . NT END=94508891;NT GT ./. 1 94509032 . C . . NT END=94510168;NT GT ./. 1 94509327 rs566346226 C CT 13 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3898,CT/0.6102;DB;DBA=NA;PAF=C/0.3898,CT/0.6102;DB;DBA=NA;PAF=C/0.3898,CT/0.6102,CTT/.;NP=8;PC=0.001;Gene=ABCA4/NM_000350.2/1;CC=c.3051-297_3051-296insA;VC=Intron;DM=ABCA4/ABC_tran;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CT:4:0:4:0:4:107:12.60:0.00:12.60:1.00:0.00:1.00:60:29.5:0:0:87:63:23:NM_000350.2(ABCA4) c.3051-297_3051-296insA,NM_000350.2(ABCA4) c.3051-297_3051-296insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 94510301 . C . . NT END=94512474;NT GT ./. 1 94512565 rs1801581 C T 114 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=in-clinvar;PAF=C/0.9846,A/.,T/0.01538;PC=0.763;Gene=ABCA4/NM_000350.2/1;CC=c.2828G>A;ProtCh=p.R943Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:48:0:0:38,36:1157,1189:0.00,113.79:0.00,44.54:0.00,69.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,36.6:0,0:0,0:91,91:52,58:36,34:-,NM_000350.2(ABCA4) c.2828G>A (p.Arg943Gln):-,0.01:-,0.031985 1 94512650 . C . . NT END=94514423;NT GT ./. 1 94514514 . C . . NT END=94517188;NT GT ./. 1 94517255 . C . . NT END=94520666;NT GT ./. 1 94520872 . C . . NT END=94522156;NT GT ./. 1 94522379 . C . . NT END=94526092;NT GT ./. 1 94526044 rs56197337 A G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9457,G/0.05431;Gene=ABCA4/NM_000350.2/1;CC=c.2160+49T>C;VC=Intron;DM=ABCA4/ABC2_membrane_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,G:15:14:0:0:10,5:284,165:0.00,14.75:0.00,10.05:0.00,4.70:0.00,0.89:0.00,0.99:0.00,0.63:60,60:26.3,33.0:0,0:0,0:62,16:88,135:22,11:-,NM_000350.2(ABCA4) c.2160+49T>C:-,0.05:-,0.052591 1 94526316 . C . . NT END=94528132;NT GT ./. 1 94528310 . C . . NT END=94528667;NT GT ./. 1 94528874 . C . . NT END=94543245;NT GT ./. 1 94543444 . C . . NT END=94544145;NT GT ./. 1 94544263 . C . . NT END=94544877;NT GT ./. 1 94544805 . TCA T 14 idl,rn VT=DEL;SST=Single;DP=57;NP=87;Gene=ABCA4/NM_000350.2/1;CC=c.1239+71_1239+72delTG;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:TCA,T:55:55:0:8:49,6:1584,262:0.00,14.14:0.00,13.28:0.00,0.86:0.00,0.83:0.00,0.99:0.00,0.51:60,70:12.3,19.7:0,2:0,0:46,37:102,109:29,14:-,NM_000350.2(ABCA4) c.1239+71_1239+72delTG:-,NOT_FOUND:-,NOT_FOUND 1 94545018 . C . . NT END=94546033;NT GT ./. 1 94546275 . C . . NT END=94548907;NT GT ./. 1 94548998 . C . . NT END=94564349;NT GT ./. 1 94564548 . C . . NT END=94568570;NT GT ./. 1 94568699 . C . . NT END=94574132;NT GT ./. 1 94568822 rs2297636 T C 90 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.6587,C/0.3413;Gene=ABCA4/NM_000350.2/1;CC=c.443-124A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:4:0:0:25:785:90.38:11.58:78.80:1.00:1.00:1.00:60:34.8:0:0:94:56:42:NM_000350.2(ABCA4) c.443-124A>G,NM_000350.2(ABCA4) c.443-124A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 1 94573920 rs12093963 A G 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7764,G/0.2236;Gene=ABCA4/NM_000350.2/1;CC=c.442+213T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:5:0:0:1,4:33,108:0.00,11.59:0.00,11.59:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,64.2:0,0:0,0:24,106:127,44:0,21:-,NM_000350.2(ABCA4) c.442+213T>C:-,0.2:-,NOT_FOUND 1 94574053 rs11165073 C A 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.4573,A/0.5427;Gene=ABCA4/NM_000350.2/1;CC=c.442+80G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:33:0:0:15,18:492,574:46.49,0.00:41.47,0.00:5.02,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:45.1,17.6:0,0:0,0:54,35:97,107:30,28:NM_000350.2(ABCA4) c.442+80G>T,-:0.52,-:NOT_FOUND,- 1 94574273 . C . . NT END=94576993;NT GT ./. 1 94574342 rs61753051 AT A 38 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=AT/0.7159,A/0.2841;NP=261;PC=0.001;Gene=ABCA4/NM_000350.2/1;CC=c.303-71delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,T,I,A:39:13:2:15:22,1,1,2,13:670,11,10,65,449:0.00,0.03,-0.02,4.37,37.73:0.00,-0.05,-0.05,-0.11,9.03:0.00,0.08,0.03,4.48,28.70:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:5.6,73.0,54.0,0.0,6.5:0,0,0,0,1:0,0,0,0,0:107,125,51,77,86:32,26,100,73,56:29,0,0,33,21:-,NM_000350.2(ABCA4) c.303-71delA:-,NOT_FOUND:-,NOT_FOUND 1 94576893 rs2297635 G A 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7788,A/0.2212;Gene=ABCA4/NM_000350.2/1;CC=c.302+101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:23:22:0:0:11,11,1:335,348,10:32.10,0.00,0.12:32.67,0.00,0.15:-0.57,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:0.87,0.00,0.00:60,60,60:69.3,7.1,10.0:0,0,0:0,0,0:57,70,126:93,81,25:32,30,0:NM_000350.2(ABCA4) c.302+101C>T,-:0.2,-:NOT_FOUND,- 1 94576968 rs2297634 T C 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=in-clinvar;PAF=T/0.4531,A/.,C/0.5469;Gene=ABCA4/NM_000350.2/1;CC=c.302+26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:45:35:0:0:21,2,22:611,10,728:58.07,-0.24,0.00:39.81,-0.07,0.00:18.26,-0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.5,71.0,4.6:0,0,0:0,0,0:59,98,52:91,52,78:27,51,32:NM_000350.2(ABCA4) c.302+26A>G,-:0.53,-:0.473089,- 1 94577136 . C . . NT END=94578528;NT GT ./. 1 94578548 rs4847281 T C 104 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=in-clinvar;PAF=T/0.01298,C/0.987,G/.;Gene=ABCA4/NM_000350.2/1;CC=c.141A>G;ProtCh=p.P47=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:29:21:0:0:29:910:104.46:57.31:47.15:1.00:1.00:1.00:60:33.2:0:0:68:83:24:NM_000350.2(ABCA4) c.=,NM_000350.2(ABCA4) c.=:0.99,0.99:0.987698,0.987698 1 94578623 . C . . NT END=94586535;NT GT ./. 1 94586602 . G . . NT END=94639424;NT GT ./. 1 94639337 rs1330858 A G 154 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.02796,G/0.972;PC=0.006;Gene=ARHGAP29/NM_004815.3/1;CC=c.*88T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:G:43:41:0:0:43:1339:154.39:132.88:21.51:1.00:1.00:1.00:60:55.6:0:0:42:109:19:NM_004815.3(ARHGAP29) c.*88T>C,NM_004815.3(ARHGAP29) c.*88T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 94639447 rs1999272 C T 385 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.05611,T/0.9439;PC=1.000;Gene=ARHGAP29/NM_004815.3/1;CC=c.3764G>A;ProtCh=p.G1255D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:105:80:0:0:1,104:11,3375:0.00,385.07:0.00,227.45:0.00,157.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:159.0,43.1:0,0:0,0:17,68:134,81:0,36:NM_004815.3(ARHGAP29) c.3764G>A (p.Gly1255Asp),NM_004815.3(ARHGAP29) c.3764G>A (p.Gly1255Asp):0.95,0.95:0.94418,0.94418 1 94640306 . C . . NT END=94643167;NT GT ./. 1 94643143 rs563927860 AT A 7 end,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=AT/0.9918,A/0.008187;NP=103;PC=0.001;Gene=ARHGAP29/NM_004815.3/1;CC=c.2905+24delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:AT,A:23:24:0:4:20,3:634,116:0.00,7.16:0.00,5.90:0.00,1.26:0.00,0.47:0.00,0.47:0.00,0.57:60,60:23.4,14.3:0,1:0,0:47,10:103,138:35,3:-,NM_004815.3(ARHGAP29) c.2905+24delA:-,NOT_FOUND:-,0.018217 1 94643277 . C . . NT END=94643407;NT GT ./. 1 94643724 . C . . NT END=94645280;NT GT ./. 1 94645148 rs67114194 CA C 7 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.107;Gene=ARHGAP29/NM_004815.3/1;CC=c.2480+132delT;VC=Intron;DM=ARHGAP29/RhoGAP;DM=ARHGAP29/RhoGAP;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:CA,C:7:9:0:5:4,3:139,143:0.00,7.39:0.00,7.39:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:56.0,110.3:0,2:0,0:25,15:125,125:13,9:-,NM_004815.3(ARHGAP29) c.2480+132delT:-,NOT_FOUND:-,NOT_FOUND 1 94645514 . C . . NT END=94649706;NT GT ./. 1 94649845 . C . . NT END=94650427;NT GT ./. 1 94650617 . C . . NT END=94650897;NT GT ./. 1 94651038 . C . . NT END=94652054;NT GT ./. 1 94652154 . C . . NT END=94654392;NT GT ./. 1 94654225 rs1411703 C G 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.03514,G/0.9649;Gene=ARHGAP29/NM_004815.3/1;CC=c.1681+168G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:150:17.38:17.38:0.00:1.00:1.00:0.00:60:35.8:0:0:59:92:25:NM_004815.3(ARHGAP29) c.1681+168G>C,NM_004815.3(ARHGAP29) c.1681+168G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 94654498 . C . . NT END=94654771;NT GT ./. 1 94654909 . C . . NT END=94655481;NT GT ./. 1 94655640 . C . . NT END=94667275;NT GT ./. 1 94667414 . C . . NT END=94668099;NT GT ./. 1 94667430 rs5776210 G GA 110 rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.0623,GA/0.9365,GAA/0.001198;NP=2285;PC=0.170;Gene=ARHGAP29/NM_004815.3/1;CC=c.1144-18dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GA:46:16:36:0:1,10,35:22,316,1071:0.95,0.00,110.38:-0.04,0.00,18.02:0.98,0.00,92.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:67.0,0.0,18.4:0,0,1:0,0,0:23,124,97:128,10,49:0,15,22:-,NM_004815.3(ARHGAP29) c.1144-18_1144-17insT:-,NOT_FOUND:-,NOT_FOUND 1 94668046 rs1541099 C T 127 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.06829,T/0.9317;Gene=ARHGAP29/NM_004815.3/1;CC=c.1143+54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:T:36:32:0:0:36:1102:127.29:98.67:28.62:1.00:1.00:1.00:60:41.8:0:0:24:126:18:NM_004815.3(ARHGAP29) c.1143+54G>A,NM_004815.3(ARHGAP29) c.1143+54G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 94668289 . C . . NT END=94668473;NT GT ./. 1 94668555 . C . . NT END=94668655;NT GT ./. 1 94668767 . C . . NT END=94669485;NT GT ./. 1 94669551 . C . . NT END=94670616;NT GT ./. 1 94670755 . C . . NT END=94671190;NT GT ./. 1 94671240 . C . . NT END=94674387;NT GT ./. 1 94674461 . C . . NT END=94674809;NT GT ./. 1 94674723 rs6684237 G A 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.02796,A/0.972;Gene=ARHGAP29/NM_004815.3/1;CC=c.437+87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:10:0:0:15:497:56.85:38.77:18.08:1.00:1.00:1.00:60:70.7:0:0:57:94:26:NM_004815.3(ARHGAP29) c.437+87C>T,NM_004815.3(ARHGAP29) c.437+87C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 94674726 rs2274788 T C 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8161,C/0.1839;PC=0.503;Gene=ARHGAP29/NM_004815.3/1;CC=c.437+84A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:10:0:0:15:498:56.95:38.27:18.68:1.00:1.00:1.00:60:70.7:0:0:60:91:26:NM_004815.3(ARHGAP29) c.437+84A>G,NM_004815.3(ARHGAP29) c.437+84A>G:0.21,0.21:NOT_FOUND,NOT_FOUND 1 94674907 . C . . NT END=94685813;NT GT ./. 1 94685949 . C . . NT END=94696962;NT GT ./. 1 94697200 . C . . NT END=94702970;NT GT ./. 1 94703308 . G . . NT END=94884034;NT GT ./. 1 94884146 . T . . NT END=94884862;NT GT ./. 1 94884880 . G . . NT END=94921288;NT GT ./. 1 94921128 rs61772854 A G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7244,G/0.2756;PC=0.005;Gene=ABCD3/NM_001122674.1/0;CC=c.111-3035A>G;VC=Intron;Gene=ABCD3/NM_002858.3/1;CC=c.111-3035A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:147:17.08:17.08:0.00:1.00:1.00:0.00:60:29.4:0:0:7:144:7:NM_002858.3(ABCD3) c.111-3035A>G,NM_002858.3(ABCD3) c.111-3035A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 94921361 . G . . NT END=94924162;NT GT ./. 1 94924046 rs2147794 A G 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7242,G/0.2758;Gene=ABCD3/NM_001122674.1/0;CC=c.111-117A>G;VC=Intron;Gene=ABCD3/NM_002858.3/1;CC=c.111-117A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:13:0:0:15:457:52.79:44.35:8.44:1.00:1.00:1.00:60:44.3:0:0:14:135:14:NM_002858.3(ABCD3) c.111-117A>G,NM_002858.3(ABCD3) c.111-117A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 94924201 . T . . NT END=94930330;NT GT ./. 1 94930345 rs16946 G A 212 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.72,A/0.28;PC=1.000;Gene=ABCD3/NM_001122674.1/0;CC=c.162G>A;ProtCh=p.K54=;VC=Silent;Gene=ABCD3/NM_002858.3/1;CC=c.162G>A;ProtCh=p.K54=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:A:56:43:0:0:56:1849:211.55:114.41:97.14:1.00:1.00:1.00:60:42.8:0:0:40:106:24:NM_002858.3(ABCD3) c.162G>A (p.(=)),NM_002858.3(ABCD3) c.162G>A (p.(=)):0.33,0.33:0.372213,0.372213 1 94930431 . T . . NT END=94933474;NT GT ./. 1 94933565 . T . . NT END=94937728;NT GT ./. 1 94937799 . G . . NT END=94939321;NT GT ./. 1 94938010 rs4148072 GT G 11 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GT/0.4918,G/0.5082;DB;DBA=NA;PAF=GT/0.4918,G/0.5082;NP=310;Gene=ABCD3/NM_001122674.1/0;CC=c.336-1298delT;VC=Intron;Gene=ABCD3/NM_002858.3/1;CC=c.336-1298delT;VC=Intron;DM=ABCD3/ABC_membrane_2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:7:4:186:11.33:0.00:11.33:0.90:0.00:0.90:60:46.2:3:0:53:97:25:NM_002858.3(ABCD3) c.336-1311delT,NM_002858.3(ABCD3) c.336-1311delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 94939393 . T . . NT END=94940698;NT GT ./. 1 94940798 . T . . NT END=94941169;NT GT ./. 1 94941295 . T . . NT END=94943814;NT GT ./. 1 94941376 rs681187 G A 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.3305,A/0.6695;Gene=ABCD3/NM_001122674.1/0;CC=c.627+83G>A;VC=Intron;Gene=ABCD3/NM_002858.3/1;CC=c.627+83G>A;VC=Intron;DM=ABCD3/ABC_membrane_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:6:0:0:18:573:65.87:13.32:52.56:1.00:1.00:1.00:60:42.6:0:0:111:39:20:NM_002858.3(ABCD3) c.627+83G>A,NM_002858.3(ABCD3) c.627+83G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 94943873 . T . . NT END=94944079;NT GT ./. 1 94944261 . G . . NT END=94946019;NT GT ./. 1 94946164 . T . . NT END=94948725;NT GT ./. 1 94948796 . G . . NT END=94953097;NT GT ./. 1 94953168 . G . . NT END=94953249;NT GT ./. 1 94953348 . G . . NT END=94953447;NT GT ./. 1 94953540 . G . . NT END=94955280;NT GT ./. 1 94955374 . T . . NT END=94955458;NT GT ./. 1 94955533 . T . . NT END=94956739;NT GT ./. 1 94956805 . T . . NT END=94964157;NT GT ./. 1 94964139 . A AT 19 idl,rn VT=INS;SST=Single;DP=55;NP=1;PC=0.565;Gene=ABCD3/NM_002858.3/1;CC=c.1387-4dupT;VC=Intron;DM=ABCD3/ABC_tran;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,AT,D:53:49:9:8:38,8,7:1185,281,264:0.00,19.33,17.83:0.00,15.90,11.27:0.00,3.43,6.57:0.00,0.96,0.00:0.00,1.00,0.00:0.00,0.92,0.00:60,60,60:27.0,56.9,34.1:0,1,1:0,0,0:68,37,39:79,111,111:26,22,14:-,NM_002858.3(ABCD3) c.1387-19_1387-18insT:-,NOT_FOUND:-,NOT_FOUND 1 94964237 . T . . NT END=94964338;NT GT ./. 1 94964406 . T . . NT END=94964500;NT GT ./. 1 94964592 . T . . NT END=94965050;NT GT ./. 1 94965172 . T . . NT END=94972093;NT GT ./. 1 94971863 rs2296382 C T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7198,T/0.2802;PC=0.761;Gene=ABCD3/NM_002858.3/1;CC=c.1741-231C>T;VC=Intron;DM=ABCD3/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:164:19.24:19.24:0.00:1.00:1.00:0.00:60:54.3:0:0:65:85:50:NM_002858.3(ABCD3) c.1741-231C>T,NM_002858.3(ABCD3) c.1741-231C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 1 94972200 . T . . NT END=94980701;NT GT ./. 1 94980671 rs3118109 C G 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.01637,G/0.9836;NP=3477;Gene=ABCD3/NM_002858.3/1;CC=c.1846-31C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:15:0:0:19:662:75.26:43.45:31.82:1.00:1.00:1.00:60:35.4:0:0:66:80:27:NM_002858.3(ABCD3) c.1846-31C>G,NM_002858.3(ABCD3) c.1846-31C>G:0.99,0.99:0.984459,0.984459 1 94980760 . T . . NT END=94982607;NT GT ./. 1 94982687 . G . . NT END=94996015;NT GT ./. 1 94996153 . C . . NT END=94997876;NT GT ./. 1 94998037 . C . . NT END=94998645;NT GT ./. 1 94998825 . C . . NT END=95001520;NT GT ./. 1 95001600 rs698946 A C 456 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.01737,A/0.9826;Gene=F3/NM_001178096.1/0;CC=c.333T>G;ProtCh=p.P111=;VC=Silent;Gene=F3/NM_001993.4/1;CC=c.333T>G;ProtCh=p.P111=;VC=Silent;DM=F3/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:130:90:0:0:129,1:3955,5:456.05,0.02:240.76,0.02:215.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,51.0:0,0:0,0:69,27:76,123:34,0:NM_001993.4(F3) c.=,NM_001993.4(F3) c.=:0.98,0.98:0.9837,0.9837 1 95001721 . C . . NT END=95005812;NT GT ./. 1 95001990 rs3917615 C T 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6991,T/0.3009;Gene=F3/NM_001178096.1/0;CC=c.213-270G>A;VC=Intron;Gene=F3/NM_001993.4/1;CC=c.213-270G>A;VC=Intron;DM=F3/Tissue_fac GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:144:16.74:0.00:16.74:1.00:0.00:1.00:60:45.8:0:0:97:53:13:NM_001993.4(F3) c.213-270G>A,NM_001993.4(F3) c.213-270G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 95005925 . C . . NT END=95007092;NT GT ./. 1 95007193 . G . . NT END=95286007;NT GT ./. 1 95148647 rs60636332 AACACAC A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=33;Gene=LINC01057/NR_104131.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:AACACAC,A:3:3:0:3:1,2:34,97:0.00,6.45:0.00,4.76:0.00,1.69:0.00,0.94:0.00,0.89:0.00,0.79:60,60:0.0,46.5:0,1:0,0:84,22:49,96:0,7:-,chr1 g.95148648_95148653delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 95245418 rs71588528 C A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2356,CA/0.7644,CACA/.;DB;DBA=NA;PAF=NA;NP=6;PC=0.002;Gene=LINC01057/NR_104131.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,C:5:4:0:0:4,1:107,24:11.47,0.00:4.77,0.00:6.70,0.00:0.96,0.00:1.00,0.00:1.00,0.00:60,60:60.8,13.0:0,0:0,0:64,121:61,8:22,0:chr1 g.95245417C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 95285897 rs536352074 C CCCCAGA 85 nt VT=INS;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.5897,CCCCAGA/0.4103;NP=132;PC=0.004;Gene=SLC44A3/NM_001114106.2/1;CC=c.-106_-105insACCCAG;VC=5UTR;Gene=SLC44A3/NM_001258340.1/0;CC=c.-106_-105insACCCAG;VC=5UTR;Gene=SLC44A3/NM_001258341.1/0;CC=c.-106_-105insACCCAG;VC=5UTR;Gene=SLC44A3/NM_001258342.1/0;CC=c.-106_-105insACCCAG;VC=5UTR;Gene=SLC44A3/NM_001258343.1/0;CC=c.-106_-105insACCCAG;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCCCAGA:73:70:31:0:42,31:1321,914:0.00,84.58:0.00,67.18:0.00,17.40:0.00,1.00:0.00,1.00:0.00,1.00:60,70:30.3,21.3:3,0:0,0:45,27:104,117:26,18:-,NM_001114106.2(SLC44A3) c.-110-u1_-110insCCCAGA:-,NOT_FOUND:-,NOT_FOUND 1 95286045 . G . . NT END=95286099;NT GT ./. 1 95286085 rs11165252 G A 227 nt VT=SNV;PN=C;NN=A;SST=Single;DP=173;DB;DBA=NA;PAF=G/0.5889,A/0.4111;Gene=SLC44A3/NM_001114106.2/1;CC=c.27+51G>A;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.27+51G>A;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.27+51G>A;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.27+51G>A;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.27+51G>A;VC=Intron;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:173:117:0:0:75,1,96,1:2419,10,2933,15:226.95,-0.19,0.00,-0.06:124.13,-0.12,0.00,0.07:102.82,-0.07,0.00,-0.13:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:71.1,42.0,35.7,49.0:0,0,0,0:0,0,0,0:81,94,66,146:70,57,81,5:42,0,35,0:NM_001114106.2(SLC44A3) c.27+51G>A,-:0.45,-:NOT_FOUND,- 1 95286094 rs10782992 G T 643 nt VT=SNV;PN=C;NN=C;SST=Single;DP=175;DB;DBA=NA;PAF=G/0.04533,T/0.9547;Gene=SLC44A3/NM_001114106.2/1;CC=c.27+60G>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.27+60G>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.27+60G>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.27+60G>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.27+60G>T;VC=Intron;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:175:126:0:0:1,174:10,5603:0.06,642.50:0.06,342.40:0.00,300.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.0,54.0:0,0:0,0:99,70:52,75:0,39:NM_001114106.2(SLC44A3) c.27+60G>T,NM_001114106.2(SLC44A3) c.27+60G>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 95286280 . G . . NT END=95286504;NT GT ./. 1 95286613 . G . . NT END=95290048;NT GT ./. 1 95286658 rs6676991 C A 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.4431,A/0.5569;PC=0.012;Gene=SLC44A3/NM_001114106.2/1;CC=c.135+46C>A;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.135+46C>A;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.135+46C>A;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.27+624C>A;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.27+624C>A;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.-10+379C>A;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.-10+379C>A;VC=Intron;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:46:9:0:0:21,24,1:656,602,10:62.30,0.00,-0.03:10.11,0.00,0.18:52.18,0.00,-0.21:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:37.1,26.0,128.0:0,0,0:0,0,0:108,86,135:43,65,16:38,26,0:NM_001114106.2(SLC44A3) c.135+46C>A,-:0.53,-:0.586509,- 1 95286675 rs58644340 GTCCCAAATGTAAA G 35 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=GTCCCAAATGTAAA/0.4433,G/0.5567;DB;DBA=NA;PAF=GTCCCAAATGTAAA/0.4433,G/0.5567;NP=524;Gene=SLC44A3/NM_001114106.2/1;CC=c.135+66_135+78delCCAAATGTAAATC;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.135+66_135+78delCCAAATGTAAATC;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.135+66_135+78delCCAAATGTAAATC;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.27+644_27+656delCCAAATGTAAATC;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.27+644_27+656delCCAAATGTAAATC;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.-10+399_-10+411delCCAAATGTAAATC;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.-10+399_-10+411delCCAAATGTAAATC;VC=Intron;DM=SLC44A3/Choline_transpo;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GTCCCAAATGTAAA,G:38:6:0:13:1,24,13:8,732,397:-0.13,0.00,35.50:-0.02,0.00,5.70:-0.11,0.00,29.80:0.00,0.00,1.00:0.00,0.00,0.90:0.00,0.00,1.00:60,60,60:8.0,29.5,35.8:0,0,0:0,0,0:82,103,107:67,48,44:0,28,20:-,NM_001114106.2(SLC44A3) c.135+64_135+76delTCCCAAATGTAAA:-,NOT_FOUND:-,NOT_FOUND 1 95290003 rs6687749 C T 162 nt VT=SNV;PN=G;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.4429,T/0.5571;Gene=SLC44A3/NM_001114106.2/1;CC=c.136-46C>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.136-46C>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.136-46C>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.28-46C>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.28-46C>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.-9-46C>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.-9-46C>T;VC=Intron;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:86:81:0:0:35,51:1143,1624:0.00,161.51:0.00,133.36:0.00,28.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,34.3:0,0:0,0:51,46:87,104:32,25:-,NM_001114106.2(SLC44A3) c.136-46C>T:-,0.53:-,0.598336 1 95290192 . G . . NT END=95293062;NT GT ./. 1 95290305 rs6541372 T C 166 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.04812,C/0.9519;PC=0.005;Gene=SLC44A3/NM_001114106.2/1;CC=c.278+114T>C;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.278+114T>C;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.278+114T>C;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.170+114T>C;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.170+114T>C;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.134+114T>C;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.134+114T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:3:0:0:42:1460:166.03:7.95:158.08:1.00:1.00:1.00:60:56.5:0:0:119:28:18:NM_001114106.2(SLC44A3) c.278+114T>C,NM_001114106.2(SLC44A3) c.278+114T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 95290315 rs36094793 A G 42 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.6162,G/0.3838;Gene=SLC44A3/NM_001114106.2/1;CC=c.278+124A>G;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.278+124A>G;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.278+124A>G;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.170+124A>G;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.170+124A>G;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.134+124A>G;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.134+124A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:2:0:0:22,15:680,461:0.00,42.38:0.00,1.68:0.00,40.70:0.00,1.00:0.00,0.71:0.00,1.00:60,60:43.4,72.8:0,0:0,0:117,121:32,30:22,27:-,NM_001114106.2(SLC44A3) c.278+124A>G:-,0.42:-,NOT_FOUND 1 95290494 rs7512591 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4427,C/0.5573;PC=0.233;Gene=SLC44A3/NM_001114106.2/1;CC=c.278+303T>C;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.278+303T>C;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.278+303T>C;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.170+303T>C;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.170+303T>C;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.134+303T>C;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.134+303T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:5:0:0:0:3,2:105,66:10.47,0.00:0.00,0.00:10.47,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:35.0,30.5:0,0:0,0:105,128:46,23:25,13:NM_001114106.2(SLC44A3) c.278+303T>C,-:0.53,-:NOT_FOUND,- 1 95293200 . G . . NT END=95294048;NT GT ./. 1 95294089 rs2640065 T C 145 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.7979,A/.,C/0.2021;PC=0.855;Gene=SLC44A3/NM_001114106.2/1;CC=c.456T>C;ProtCh=p.Y152=;VC=Silent;Gene=SLC44A3/NM_001258340.1/0;CC=c.456T>C;ProtCh=p.Y152=;VC=Silent;Gene=SLC44A3/NM_001258341.1/0;CC=c.360T>C;ProtCh=p.Y120=;VC=Silent;Gene=SLC44A3/NM_001258342.1/0;CC=c.348T>C;ProtCh=p.Y116=;VC=Silent;Gene=SLC44A3/NM_001258343.1/0;CC=c.252T>C;ProtCh=p.Y84=;VC=Silent;Gene=SLC44A3/NM_001301079.1/0;CC=c.216T>C;ProtCh=p.Y72=;VC=Silent;Gene=SLC44A3/NM_152369.4/0;CC=c.312T>C;ProtCh=p.Y104=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:66:0:0:45,43:1503,1327:145.29,0.00:75.27,0.00:70.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,13.0:0,0:0,0:70,80:69,52:23,29:NM_001114106.2(SLC44A3) c.456T>C (p.(=)),-:0.19,-:0.219822,- 1 95294143 . G . . NT END=95303266;NT GT ./. 1 95294370 rs2640066 G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4325,A/0.5675;Gene=SLC44A3/NM_001114106.2/1;CC=c.509+228G>A;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.509+228G>A;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.413+228G>A;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.401+228G>A;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.305+228G>A;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.269+228G>A;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.365+228G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:6:0:0:0:3,3:95,102:9.12,0.00:0.00,0.00:9.12,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:31.7,17.0:0,0:0,0:72,100:78,51:44,17:NM_001114106.2(SLC44A3) c.509+228G>A,-:0.59,-:NOT_FOUND,- 1 95303428 . G . . NT END=95305503;NT GT ./. 1 95303659 rs2893276 T C 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5657,C/0.4343;Gene=SLC44A3/NM_001114106.2/1;CC=c.670+232T>C;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.670+232T>C;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.574+232T>C;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.562+232T>C;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.466+232T>C;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.430+232T>C;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.526+232T>C;VC=Intron;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,T:7:0:0:0:6,1:190,33:20.61,0.00:0.00,0.00:20.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.8,0.0:0,0:0,0:115,57:35,94:12,0:NM_001114106.2(SLC44A3) c.670+232T>C,-:0.41,-:NOT_FOUND,- 1 95305440 rs859120 A G 42 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.4333,G/0.5667;Gene=SLC44A3/NM_001114106.2/1;CC=c.671-64A>G;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.671-64A>G;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.575-64A>G;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.563-64A>G;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.467-64A>G;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.431-64A>G;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.527-64A>G;VC=Intron;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:22:0:0:12,13:378,430:0.00,41.68:0.00,35.42:0.00,6.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.2,33.1:0,0:0,0:53,53:96,98:18,46:-,NM_001114106.2(SLC44A3) c.671-64A>G:-,0.59:-,NOT_FOUND 1 95305594 . G . . NT END=95307555;NT GT ./. 1 95307681 . G . . NT END=95310833;NT GT ./. 1 95307842 rs698967 T C 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.4353,C/0.5647;Gene=SLC44A3/NM_001114106.2/1;CC=c.885+162T>C;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.885+162T>C;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.789+162T>C;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.777+162T>C;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.681+162T>C;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.645+162T>C;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.741+162T>C;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:0:0:0:17,14:541,403:52.97,0.00:0.00,0.00:52.97,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.9,19.4:0,0:0,0:107,98:44,52:22,30:NM_001114106.2(SLC44A3) c.885+162T>C,-:0.59,-:NOT_FOUND,- 1 95310618 rs698963 C T 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7702,T/0.2298;PC=0.001;Gene=SLC44A3/NM_001114106.2/1;CC=c.886-216C>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.886-216C>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.790-216C>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.778-216C>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.682-216C>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.646-216C>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.742-216C>T;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:C,T:12:12:0:0:6,6:175,169:0.00,16.11:0.00,16.11:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:7.7,56.5:0,0:0,0:85,44:64,107:44,5:-,NM_001114106.2(SLC44A3) c.886-216C>T:-,0.22:-,NOT_FOUND 1 95311021 . G . . NT END=95322890;NT GT ./. 1 95311200 rs698962 C T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.77,T/0.23;Gene=SLC44A3/NM_001114106.2/1;CC=c.1072+180C>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1072+180C>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.976+180C>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.964+180C>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.868+180C>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.832+180C>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.928+180C>T;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:C,T:13:0:0:0:5,8:158,234:0.00,23.42:0.00,0.00:0.00,23.42:0.00,1.00:0.00,0.00:0.00,1.00:60,60:20.0,65.1:0,0:0,0:128,72:23,78:15,38:-,NM_001114106.2(SLC44A3) c.1072+180C>T:-,0.22:-,NOT_FOUND 1 95322661 . G A 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;Gene=SLC44A3/NM_001114106.2/1;CC=c.1073-230G>A;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1073-230G>A;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.977-230G>A;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.965-230G>A;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.869-230G>A;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.833-230G>A;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.929-230G>A;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:13:13:0:0:3,10:98,295:8.19,0.00:8.19,0.00:0.00,0.00:0.58,0.00:0.58,0.00:0.00,0.00:60,60:32.7,23.8:0,0:0,0:35,40:116,110:15,25:NM_001114106.2(SLC44A3) c.1073-230G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 95323057 . G . . NT END=95330298;NT GT ./. 1 95323325 rs7552892 C T 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.854,T/0.146;PC=0.003;Gene=SLC44A3/NM_001114106.2/1;CC=c.1238+269C>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1238+269C>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1142+269C>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1130+269C>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1034+269C>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.998+269C>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1094+269C>T;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,T:10:0:0:0:4,6:138,192:0.00,19.14:0.00,0.00:0.00,19.14:0.00,0.99:0.00,0.00:0.00,0.99:60,60:15.2,50.8:0,0:0,0:124,126:26,24:11,12:-,NM_001114106.2(SLC44A3) c.1238+269C>T:-,0.14:-,NOT_FOUND 1 95330372 rs859098 G A 288 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.2454,A/0.7546;PC=0.983;Gene=SLC44A3/NM_001114106.2/1;CC=c.1312G>A;ProtCh=p.V438I;VC=Missense;Gene=SLC44A3/NM_001258340.1/0;CC=c.1312G>A;ProtCh=p.V438I;VC=Missense;Gene=SLC44A3/NM_001258341.1/0;CC=c.1216G>A;ProtCh=p.V406I;VC=Missense;Gene=SLC44A3/NM_001258342.1/0;CC=c.1204G>A;ProtCh=p.V402I;VC=Missense;Gene=SLC44A3/NM_001258343.1/0;CC=c.1108G>A;ProtCh=p.V370I;VC=Missense;Gene=SLC44A3/NM_001301079.1/0;CC=c.1072G>A;ProtCh=p.V358I;VC=Missense;Gene=SLC44A3/NM_152369.4/0;CC=c.1168G>A;ProtCh=p.V390I;VC=Missense;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:80:55:0:0:80:2496:287.53:146.58:140.96:1.00:1.00:1.00:60:45.5:0:0:68:75:31:NM_001114106.2(SLC44A3) c.1312G>A (p.Val438Ile),NM_001114106.2(SLC44A3) c.1312G>A (p.Val438Ile):0.78,0.78:0.679686,0.679686 1 95330456 . G . . NT END=95332886;NT GT ./. 1 95332624 rs3849306 G T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8123,T/0.1877;Gene=SLC44A3/NM_001114106.2/1;CC=c.1396-263G>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1396-266G>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1300-266G>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1288-263G>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1192-263G>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1156-263G>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1252-263G>T;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:G,T:6:6:0:0:3,3:70,90:0.00,8.63:0.00,8.63:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:47.0,38.0:0,0:0,0:72,39:79,110:58,29:-,NM_001114106.2(SLC44A3) c.1396-263G>T:-,0.18:-,NOT_FOUND 1 95332814 rs74104711 C T 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7566,T/0.2434;Gene=SLC44A3/NM_001114106.2/1;CC=c.1396-73C>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1396-76C>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1300-76C>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1288-73C>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1192-73C>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1156-73C>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1252-73C>T;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:40:0:0:19,27:618,932:0.00,92.54:0.00,76.33:0.00,16.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.7,36.2:0,0:0,0:55,41:95,110:37,32:-,NM_001114106.2(SLC44A3) c.1396-73C>T:-,0.22:-,NOT_FOUND 1 95332864 rs12137650 C T 95 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.7726,T/0.2274;PC=0.002;Gene=SLC44A3/NM_001114106.2/1;CC=c.1396-23C>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1396-26C>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1300-26C>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1288-23C>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1192-23C>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1156-23C>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1252-23C>T;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:58:0:0:39,32:1303,1014:0.00,95.45:0.00,69.90:0.00,25.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.2,42.6:0,0:0,0:55,47:96,103:26,26:-,NM_001114106.2(SLC44A3) c.1396-23C>T:-,0.25:-,0.293634 1 95332974 . G . . NT END=95354213;NT GT ./. 1 95333068 rs859096 G T 38 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.387,T/0.613;Gene=SLC44A3/NM_001114106.2/1;CC=c.1482+95G>T;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1479+95G>T;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1383+95G>T;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1374+95G>T;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1278+95G>T;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1242+95G>T;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1338+95G>T;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:0:0:0:15,12:492,400:0.00,37.69:0.00,0.00:0.00,37.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.5,37.1:0,0:0,0:121,99:29,50:8,26:-,NM_001114106.2(SLC44A3) c.1482+95G>T:-,0.65:-,NOT_FOUND 1 95333195 rs859095 G A 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.02017,A/0.9798;Gene=SLC44A3/NM_001114106.2/1;CC=c.1482+222G>A;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1479+222G>A;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1383+222G>A;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1374+222G>A;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1278+222G>A;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1242+222G>A;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1338+222G>A;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:297:34.86:0.00:34.86:1.00:0.00:1.00:60:61.5:0:0:81:68:29:NM_001114106.2(SLC44A3) c.1482+222G>A,NM_001114106.2(SLC44A3) c.1482+222G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 95333230 rs9432396 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7566,G/0.2434;Gene=SLC44A3/NM_001114106.2/1;CC=c.1482+257A>G;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1479+257A>G;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1383+257A>G;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1374+257A>G;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1278+257A>G;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1242+257A>G;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1338+257A>G;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,G:8:0:0:0:4,4:110,136:0.00,13.12:0.00,0.00:0.00,13.12:0.00,0.87:0.00,0.00:0.00,0.87:60,60:45.5,93.5:0,0:0,0:89,107:61,43:7,22:-,NM_001114106.2(SLC44A3) c.1482+257A>G:-,0.22:-,NOT_FOUND 1 95354197 . CT C 15 idl,rn VT=DEL;SST=Single;DP=41;PC=0.001;Gene=SLC44A3/NM_001114106.2/1;CC=c.1483-2477delT;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1480-2477delT;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1384-2477delT;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1375-2477delT;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1279-2477delT;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1243-2477delT;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1339-2477delT;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:CT,I,C:38:29:4:8:29,3,6:935,132,252:0.00,6.97,14.57:0.00,3.45,3.40:0.00,3.52,11.17:0.00,0.00,0.87:0.00,0.00,0.96:0.00,0.00,0.97:60,60,60:5.1,31.7,9.7:0,1,2:0,0,0:34,65,32:89,81,113:22,5,7:-,NM_001114106.2(SLC44A3) c.1483-2488delT:-,NOT_FOUND:-,NOT_FOUND 1 95354279 . T . . NT END=95356685;NT GT ./. 1 95354293 rs6685761 C CT 107 idl,rn VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.09225,CT/0.9077,CTTTTTTTT/.;DB;DBA=NA;PAF=C/0.09225,CT/0.9077;DB;DBA=NA;PAF=NA;NP=558;PC=0.006;Gene=SLC44A3/NM_001114106.2/1;CC=c.1483-2383_1483-2382insT;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1480-2383_1480-2382insT;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1384-2383_1384-2382insT;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1375-2383_1375-2382insT;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1279-2383_1279-2382insT;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1243-2383_1243-2382insT;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1339-2383_1339-2382insT;VC=Intron;DM=SLC44A3/Choline_transpo;DM=SLC44A3/Choline_transpo;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:45:18:37:1:12,32,1:398,1187,32:0.00,107.43,1.88:0.00,20.54,0.97:0.00,86.89,0.91:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.4,8.0,0.0:0,5,0:0,0,0:127,94,108:11,47,21:10,21,0:-,NM_001114106.2(SLC44A3) c.1483-2393_1483-2392insT:-,NOT_FOUND:-,NOT_FOUND 1 95356824 . G . . NT END=95357836;NT GT ./. 1 95358074 . G . . NT END=95360373;NT GT ./. 1 95358096 rs859063 A G 91 nt VT=SNV;PN=A;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.5473,G/0.4527;Gene=SLC44A3/NM_001114106.2/1;CC=c.1857+23A>G;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1854+23A>G;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1758+23A>G;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1749+23A>G;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1653+23A>G;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1617+23A>G;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1713+23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:16:0:0:20,28:651,919:0.00,91.07:0.00,23.64:0.00,67.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,39.0:0,0:0,0:112,104:33,46:20,28:-,NM_001114106.2(SLC44A3) c.1857+23A>G:-,0.5:-,0.522144 1 95358227 rs3818929 G A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9307,A/0.06929;Gene=SLC44A3/NM_001114106.2/1;CC=c.1857+154G>A;VC=Intron;Gene=SLC44A3/NM_001258340.1/0;CC=c.1854+154G>A;VC=Intron;Gene=SLC44A3/NM_001258341.1/0;CC=c.1758+154G>A;VC=Intron;Gene=SLC44A3/NM_001258342.1/0;CC=c.1749+154G>A;VC=Intron;Gene=SLC44A3/NM_001258343.1/0;CC=c.1653+154G>A;VC=Intron;Gene=SLC44A3/NM_001301079.1/0;CC=c.1617+154G>A;VC=Intron;Gene=SLC44A3/NM_152369.4/0;CC=c.1713+154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,G:16:0:0:0:4,12:127,374:10.71,0.00:0.00,0.00:10.71,0.00:0.75,0.00:0.00,0.00:0.75,0.00:60,60:57.2,24.4:0,0:0,0:123,117:27,34:11,21:NM_001114106.2(SLC44A3) c.1857+154G>A,-:0.07,-:NOT_FOUND,- 1 95360479 . A . . NT END=95363297;NT GT ./. 1 95363640 . C . . NT END=95364926;NT GT ./. 1 95365074 . C . . NT END=95367224;NT GT ./. 1 95365257 rs397766971 AT A 24 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=AT/0.5589,A/0.4411;DB;DBA=NA;PAF=AT/0.5589,A/0.4411;NP=420;Gene=CNN3/NM_001286056.1/0;CC=c.379-185delA;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.364-185delA;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.502-185delA;VC=Intron;DM=CNN3/Calponin;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:18:0:0:8:10,8:301,258:0.00,24.27:0.00,0.00:0.00,24.27:0.00,0.99:0.00,0.00:0.00,0.99:60,60:8.1,3.0:0,0:0,0:104,87:41,64:27,21:-,NM_001839.3(CNN3) c.502-185delA:-,0.49:-,NOT_FOUND 1 95367108 rs138718825 ACC A 11 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1269;Gene=CNN3/NM_001286056.1/0;CC=c.378+115_378+116delGG;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.363+115_363+116delGG;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.501+115_501+116delGG;VC=Intron;DM=CNN3/Calponin;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:ACC,A:6:7:0:5:2,4:48,138:0.00,11.41:0.00,11.41:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,70:79.5,84.5:0,1:0,0:136,31:14,119:3,29:-,NM_001839.3(CNN3) c.501+115_501+116delGG:-,NOT_FOUND:-,NOT_FOUND 1 95367136 rs859059 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.008387,A/0.9916;NP=3320;Gene=CNN3/NM_001286056.1/0;CC=c.378+89C>T;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.363+89C>T;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.501+89C>T;VC=Intron;DM=CNN3/Calponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:12:0:0:13:378:43.99:40.21:3.78:1.00:1.00:1.00:70:52.2:0:0:26:125:12:NM_001839.3(CNN3) c.501+89C>T,NM_001839.3(CNN3) c.501+89C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 95367342 . C . . NT END=95367676;NT GT ./. 1 95367416 rs2275612 C T 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.9283,T/0.07169;Gene=CNN3/NM_001286056.1/0;CC=c.262-75G>A;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.247-75G>A;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.385-75G>A;VC=Intron;DM=CNN3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:9:0:0:11,14:324,464:0.00,45.64:0.00,10.79:0.00,34.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,40.2:0,0:0,0:59,73:91,77:34,22:-,NM_001839.3(CNN3) c.385-75G>A:-,0.07:-,NOT_FOUND 1 95367649 rs859058 T C 66 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.5589,C/0.4411;Gene=CNN3/NM_001286056.1/0;CC=c.261+28A>G;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.247-308A>G;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.384+28A>G;VC=Intron;DM=CNN3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:29:0:0:21,17:675,554:66.14,0.00:43.01,0.00:23.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,43.9:0,0:0,0:58,80:93,71:27,26:NM_001839.3(CNN3) c.384+28A>G,-:0.49,-:0.510072,- 1 95367669 rs2275613 G A 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9281,A/0.07188;PC=0.011;Gene=CNN3/NM_001286056.1/0;CC=c.261+8C>T;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.247-328C>T;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.384+8C>T;VC=Intron;DM=CNN3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:26:0:0:15,22:498,761:46.11,0.00:36.48,0.00:9.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,34.3:0,0:0,0:93,74:58,76:18,18:NM_001839.3(CNN3) c.384+8C>T,-:0.07,-:0.098416,- 1 95367815 . C . . NT END=95368677;NT GT ./. 1 95367894 rs859057 A C 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.281,C/0.719;Gene=CNN3/NM_001286056.1/0;CC=c.124-80T>G;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.247-553T>G;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.247-80T>G;VC=Intron;DM=CNN3/CH;DM=CNN3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:12:0:0:13,13:404,432:0.00,41.58:0.00,13.10:0.00,28.47:0.00,1.00:0.00,0.98:0.00,1.00:60,60:2.5,35.1:0,0:0,0:108,109:43,42:28,23:-,NM_001839.3(CNN3) c.247-80T>G:-,0.76:-,NOT_FOUND 1 95368458 rs859055 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5587,A/0.4413;PC=0.001;Gene=CNN3/NM_001286056.1/0;CC=c.123+220C>T;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.246+220C>T;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.246+220C>T;VC=Intron;DM=CNN3/CH;DM=CNN3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G:10:10:0:0:5,5:162,106:15.67,0.00:15.67,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:39.2,42.0:0,0:0,0:22,24:128,126:9,15:NM_001839.3(CNN3) c.246+220C>T,-:0.49,-:NOT_FOUND,- 1 95368574 rs372027375 T TA 14 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=6;NP=7;PC=0.001;Gene=CNN3/NM_001286056.1/0;CC=c.123+103dupT;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.246+103dupT;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.246+103dupT;VC=Intron;DM=CNN3/CH;DM=CNN3/CH;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:T,TA,D:35:34:6:5:24,6,5:729,180,148:0.00,14.32,11.36:0.00,14.40,10.51:0.00,-0.08,0.85:0.00,0.89,0.00:0.00,0.99,0.00:0.00,0.43,0.00:60,60,60:27.2,22.2,15.0:0,0,0:0,0,0:53,44,8:97,100,143:40,39,3:-,NM_001839.3(CNN3) c.246+103_246+104insT:-,NOT_FOUND:-,NOT_FOUND 1 95368745 . C . . NT END=95368958;NT GT ./. 1 95369081 . C . . NT END=95391188;NT GT ./. 1 95369211 rs859054 T G 69 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.1482,G/0.8518;PC=0.002;Gene=CNN3/NM_001286056.1/0;CC=c.-66-131A>C;VC=Intron;Gene=CNN3/NM_001286055.1/0;CC=c.58-131A>C;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.58-131A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:46:3:0:0:22,24:726,783:69.24,0.00:5.54,0.00:63.70,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:37.0,1.4:0,0:0,0:93,86:57,64:24,22:NM_001839.3(CNN3) c.58-131A>C,-:0.87,-:NOT_FOUND,- 1 95391353 . T . . NT END=95392393;NT GT ./. 1 95391663 rs1268475 A C 20 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.005791,C/0.9942;Gene=CNN3/NM_001286055.1/0;CC=c.57+731T>G;VC=Intron;Gene=CNN3/NM_001839.4/1;CC=c.57+731T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:175:20.32:1.94:18.39:1.00:1.00:1.00:60:74.8:0:0:62:75:23:NM_001839.3(CNN3) c.57+731T>G,NM_001839.3(CNN3) c.57+731T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 95392451 . G . . NT END=95448636;NT GT ./. 1 95392593 rs11540278 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9161,T/0.08387;PC=0.001;Gene=CNN3/NM_001286055.1/0;CC=c.-143G>A;VC=5UTR;Gene=CNN3/NM_001839.4/1;CC=c.-143G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:14,7:436,225:0.00,20.03:0.00,0.00:0.00,20.03:0.00,0.97:0.00,0.00:0.00,0.97:60,60:6.4,33.9:0,0:0,0:104,83:46,67:31,21:-,NM_001839.3(CNN3) c.-143G>A:-,0.11:-,NOT_FOUND 1 95416356 rs60453310 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4531,A/0.5469;DB;DBA=NA;PAF=NA;Gene=LOC729970/NR_033998.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,G:4:4:0:0:3,1:79,5:8.48,0.00:8.48,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:87.3,0.0:0,0:0,0:81,63:60,88:47,0:NR_033998.1(LOC729970) n.490-10517G>A,NR_033998.1(LOC729970) n.490-10517G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 95448863 . C . . NT END=95487865;NT GT ./. 1 95449033 rs2298162 T C 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.509,C/0.491;Gene=ALG14/NM_001305242.1/0;CC=c.458-171A>G;VC=Intron;Gene=ALG14/NM_144988.3/1;CC=c.421-171A>G;VC=Intron;Gene=ALG14/NR_131032.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:C,T:11:0:0:0:6,5:186,173:18.17,0.00:0.00,0.00:18.17,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:56.8,0.0:0,0:0,0:99,51:51,97:16,3:NM_144988.3(ALG14) c.421-171A>G,-:0.5,-:NOT_FOUND,- 1 95482498 rs369951798 GGTGTGT G 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GGTGTGT/0.6677,G/0.3323;PC=0.044;Gene=ALG14/NM_001305242.1/0;CC=c.457+10181_457+10186delACACAC;VC=Intron;Gene=ALG14/NM_144988.3/1;CC=c.420+10181_420+10186delACACAC;VC=Intron;Gene=ALG14/NR_131032.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GGTGTGT,G:4:4:0:4:1,3:33,115:0.00,8.96:0.00,4.48:0.00,4.48:0.00,0.78:0.00,0.97:0.00,0.94:60,60:34.0,58.3:0,1:0,0:41,84:45,62:0,2:-,NM_144988.3(ALG14) c.420+10181_420+10186delACACAC:-,NOT_FOUND:-,NOT_FOUND 1 95487924 . C . . NT END=95492684;NT GT ./. 1 95492817 . C . . NT END=95530421;NT GT ./. 1 95530574 . C . . NT END=95538318;NT GT ./. 1 95538460 . G . . NT END=95609457;NT GT ./. 1 95609613 . G . . NT END=95614257;NT GT ./. 1 95613936 rs7532269 G T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01857,T/0.9814;Gene=TMEM56/NM_001199679.1/1;CC=c.156-322G>T;VC=Intron;Gene=TMEM56/NM_152487.2/0;CC=c.156-322G>T;VC=Intron;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.156-322G>T;VC=Intron;DM=TMEM56/TRAM_LAG1_CLN8;DM=TMEM56/TRAM_LAG1_CLN8;DM=TMEM56-RWDD3/TRAM_LAG1_CLN8;DM=TMEM56/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:34.8:0:0:39:111:7:NM_001199691.1(TMEM56-RWDD3) c.156-322G>T,NM_001199691.1(TMEM56-RWDD3) c.156-322G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 95614348 . G . . NT END=95615763;NT GT ./. 1 95614677 rs6695720 A G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01617,G/0.9838;Gene=TMEM56/NM_001199679.1/1;CC=c.245+330A>G;VC=Intron;Gene=TMEM56/NM_152487.2/0;CC=c.245+330A>G;VC=Intron;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.245+330A>G;VC=Intron;DM=TMEM56/TRAM_LAG1_CLN8;DM=TMEM56/TRAM_LAG1_CLN8;DM=TMEM56-RWDD3/TRAM_LAG1_CLN8;DM=TMEM56/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:162:18.58:0.00:18.58:1.00:0.00:1.00:60:39.0:0:0:106:45:7:NM_001199691.1(TMEM56-RWDD3) c.245+330A>G,NM_001199691.1(TMEM56-RWDD3) c.245+330A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 95615748 . CT C 18 idl,rn VT=DEL;SST=Single;DP=68;NP=90;PC=0.196;Gene=TMEM56/NM_001199679.1/1;CC=c.246-4delT;VC=Intron;Gene=TMEM56/NM_152487.2/0;CC=c.246-4delT;VC=Intron;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.246-4delT;VC=Intron;DM=TMEM56/TRAM_LAG1_CLN8;DM=TMEM56/TRAM_LAG1_CLN8;DM=TMEM56-RWDD3/TRAM_LAG1_CLN8;DM=TMEM56/TRAM_LAG1_CLN8;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:CT,T,I,C:67:56:6:8:52,2,5,8:1651,46,198,247:0.00,2.03,11.50,18.27:0.00,0.76,6.87,11.71:0.00,1.27,4.63,6.56:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.98:60,60,60,60:18.0,28.5,34.6,19.1:0,0,1,0:0,0,0,0:47,9,61,58:97,112,85,89:34,8,24,16:-,NM_001199691.1(TMEM56-RWDD3) c.246-15delT:-,NOT_FOUND:-,NOT_FOUND 1 95615823 . G . . NT END=95616880;NT GT ./. 1 95616976 . G . . NT END=95639371;NT GT ./. 1 95639446 . G . . NT END=95657105;NT GT ./. 1 95657593 . c . . NT END=95696457;NT GT ./. 1 95696551 . G . . NT END=95699786;NT GT ./. 1 95696612 rs6663164 C T 68 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6609,T/0.3391;PC=0.004;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.566+62C>T;VC=Intron;Gene=LOC101928118/NR_125948.1/0;VC=NonCoding;Gene=LOC101928118/NR_125949.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:3:0:0:10,21:325,664:0.00,67.92:0.00,1.17:0.00,66.75:0.00,1.00:0.00,0.97:0.00,1.00:60,60:7.7,41.4:0,0:0,0:110,111:40,37:16,27:-,NM_001199691.1(TMEM56-RWDD3) c.566+62C>T:-,0.35:-,NOT_FOUND 1 95699594 rs3738171 A G 44 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1492,G/0.8508;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.566+3044A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:380:44.16:43.39:0.77:1.00:1.00:1.00:60:71.4:0:0:54:97:37:NM_001199691.1(TMEM56-RWDD3) c.566+3044A>G,NM_001199691.1(TMEM56-RWDD3) c.566+3044A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 95699604 rs3738170 G C 55 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.1923,C/0.8077;PC=0.003;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.566+3054G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:475:54.65:52.71:1.94:1.00:1.00:1.00:60:67.6:0:0:39:112:30:NM_001199691.1(TMEM56-RWDD3) c.566+3054G>C,NM_001199691.1(TMEM56-RWDD3) c.566+3054G>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 95699829 rs142820652 A G 231 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=A/0.9956,G/0.004393;NP=28;PC=1.000;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.566+3279A>G;VC=Intron;Gene=RWDD3/NM_001128142.1/0;CC=c.43A>G;ProtCh=p.I15V;VC=Missense;Gene=RWDD3/NM_001199682.1/0;CC=c.43A>G;ProtCh=p.I15V;VC=Missense;Gene=RWDD3/NM_001278247.1/0;CC=c.-136A>G;VC=5UTR;Gene=RWDD3/NM_001278248.1/1;CC=c.-136A>G;VC=5UTR;Gene=RWDD3/NM_015485.4/0;CC=c.43A>G;ProtCh=p.I15V;VC=Missense;Gene=RWDD3/NR_103483.1/0;VC=NonCoding;Gene=RWDD3/NR_103484.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:133:94:0:0:60,1,72:1828,13,2359:0.00,-0.05,230.83:0.00,-0.10,105.02:0.00,0.05,125.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.4,24.0,40.3:0,0,0:0,0,0:92,67,78:56,84,64:30,0,33:-,NM_015485.4(RWDD3) c.43A>G (p.Ile15Val):-,0.01:-,0.00962 1 95699872 . G . . NT END=95705332;NT GT ./. 1 95705466 . G . . NT END=95709766;NT GT ./. 1 95705615 rs640527 G A 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.07268,A/0.9273;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.567-4152G>A;VC=Intron;Gene=RWDD3/NM_001128142.1/0;CC=c.86-4152G>A;VC=Intron;Gene=RWDD3/NM_001199682.1/0;CC=c.86-4152G>A;VC=Intron;Gene=RWDD3/NM_001278247.1/0;CC=c.40+150G>A;VC=Intron;Gene=RWDD3/NM_001278248.1/1;CC=c.40+150G>A;VC=Intron;Gene=RWDD3/NM_015485.4/0;CC=c.86-4152G>A;VC=Intron;Gene=RWDD3/NR_103483.1/0;VC=NonCoding;Gene=RWDD3/NR_103484.1/0;VC=NonCoding;DM=RWDD3/RWD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:0:0:0:17:550:63.07:0.00:63.07:1.00:0.00:1.00:60:42.1:0:0:82:68:25:NM_001199691.1(TMEM56-RWDD3) c.567-4152G>A,NM_001199691.1(TMEM56-RWDD3) c.567-4152G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 95709807 . A . . NT END=95712097;NT GT ./. 1 95709821 rs259358 T C 470 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=T/0.01538,C/0.9846;PC=0.016;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.*15T>C;VC=3UTR;Gene=RWDD3/NM_001128142.1/0;CC=c.140T>C;ProtCh=p.V47A;VC=Missense;Gene=RWDD3/NM_001199682.1/0;CC=c.140T>C;ProtCh=p.V47A;VC=Missense;Gene=RWDD3/NM_001278247.1/0;CC=c.95T>C;ProtCh=p.V32A;VC=Missense;Gene=RWDD3/NM_001278248.1/1;CC=c.95T>C;ProtCh=p.V32A;VC=Missense;Gene=RWDD3/NM_015485.4/0;CC=c.140T>C;ProtCh=p.V47A;VC=Missense;Gene=RWDD3/NR_103483.1/0;VC=NonCoding;Gene=RWDD3/NR_103484.1/0;VC=NonCoding;DM=RWDD3/RWD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:131:94:0:0:129,1,1:4110,9,11:469.91,0.06,0.00:275.39,0.06,0.00:194.52,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.3,28.0,91.0:0,0,0:0,0,0:76,133,54:71,18,84:40,0,0:NM_015485.4(RWDD3) c.=,NM_015485.4(RWDD3) c.=:0.98,0.98:0.985995,0.985995 1 95709939 rs2296308 T G 620 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=163;DB;DBA=NA;PAF=T/0.1827,A/.,C/.,G/0.8173;PC=0.725;Gene=TMEM56-RWDD3/NM_001199691.1/1;CC=c.*133T>G;VC=3UTR;Gene=RWDD3/NM_001128142.1/0;CC=c.258T>G;ProtCh=p.N86K;VC=Missense;Gene=RWDD3/NM_001199682.1/0;CC=c.258T>G;ProtCh=p.N86K;VC=Missense;Gene=RWDD3/NM_001278247.1/0;CC=c.213T>G;ProtCh=p.N71K;VC=Missense;Gene=RWDD3/NM_001278248.1/1;CC=c.213T>G;ProtCh=p.N71K;VC=Missense;Gene=RWDD3/NM_015485.4/0;CC=c.258T>G;ProtCh=p.N86K;VC=Missense;Gene=RWDD3/NR_103483.1/0;VC=NonCoding;Gene=RWDD3/NR_103484.1/0;VC=NonCoding;DM=RWDD3/RWD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:163:100:0:0:162,1:5456,34:620.15,0.00:279.92,0.00:340.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,35.0:0,0:0,0:79,128:68,23:39,0:NM_015485.4(RWDD3) c.258T>G (p.Asn86Lys),NM_015485.4(RWDD3) c.258T>G (p.Asn86Lys):0.8,0.8:0.820053,0.820053 1 95712214 . G . . NT END=95712311;NT GT ./. 1 95712427 . A . . NT END=97187420;NT GT ./. 1 96077555 . TCACACACA T 10 nt VT=DEL;SST=Single;DP=5;NP=21;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:5:4:122:10.26:4.05:6.21:0.96:1.00:0.99:60:8.0:1:0:24:75:15:chr1 g.96077556_96077563delCACACACA (intergenic),chr1 g.96077556_96077563delCACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 96079556 rs72126975 GGT G 10 sb,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GGT/0.8774,G/0.1226;NP=28;PC=0.438;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:GGT,I,G:6:4:1:3:2,1,3:72,33,97:0.00,2.84,9.63:0.00,1.42,1.44:0.00,1.42,8.19:0.00,0.00,0.73:0.00,0.00,0.94:0.00,0.00,0.73:60,60,60:0.0,64.0,0.0:0,0,0:0,0,0:77,42,43:65,98,108:19,0,7:-,chr1 g.96079557_96079558delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 96419668 rs59993926 C CTGTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7312,CTG/0.2688;DB;DBA=NA;PAF=NA;NP=78;NP=8;PC=0.004;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,CTGTG:3:3:3:0:1,2:36,92:0.00,6.75:0.00,5.11:0.00,1.64:0.00,0.94:0.00,0.89:0.00,0.89:60,60:0.0,21.5:0,1:0,0:39,29:75,122:0,8:-,chr1 g.96419668_96419669insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 96648004 rs321581 G C 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.07448,C/0.9255 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:2:0:0:6:190:21.86:3.83:18.03:1.00:1.00:1.00:60:38.5:0:0:84:67:15:chr1 g.96648003G>C (intergenic),chr1 g.96648003G>C (intergenic):0.93,0.93:NOT_FOUND,NOT_FOUND 1 96884286 rs2011694 T A 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7762,A/0.2238;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:21:0:0:14,8:464,262:46.82,0.00:42.00,0.00:4.81,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:82.4,5.2:0,0:0,0:47,81:102,56:29,37:chr1 g.96884285T>A (intergenic),-:0.23,-:NOT_FOUND,- 1 96884287 rs2011693 G A 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.7762,A/0.2238;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:21:0:0:14,8:455,222:45.95,0.00:40.83,0.00:5.11,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:82.3,5.2:0,0:0,0:39,82:110,55:20,37:chr1 g.96884286G>A (intergenic),-:0.23,-:NOT_FOUND,- 1 96884810 rs4245663 T C 82 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6833,C/0.3167;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:46:22:0:0:25,1,20:838,10,630:82.29,0.00,0.00:33.51,0.16,0.00:48.79,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.2,64.0,4.0:0,0,0:0,0,0:76,104,79:72,47,71:27,0,27:chr1 g.96884809T>C (intergenic),-:0.34,-:NOT_FOUND,- 1 96885462 rs11165622 A G 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8578,G/0.1422;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:12:0:0:15,8:480,260:0.00,23.37:0.00,7.25:0.00,16.12:0.00,0.99:0.00,0.99:0.00,1.00:60,60:25.7,52.9:0,0:0,0:107,107:42,31:29,26:-,chr1 g.96885461A>G (intergenic):-,0.17:-,NOT_FOUND 1 96885498 rs2151619 T C 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6835,C/0.3165;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,T:17:7:0:0:11,6:354,186:35.82,0.00:19.63,0.00:16.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.9,45.7:0,0:0,0:63,100:88,49:51,43:chr1 g.96885497T>C (intergenic),-:0.34,-:NOT_FOUND,- 1 96885600 rs2151620 G A 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6835,A/0.3165;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:12:4:0:0:8,4:237,132:24.15,0.00:11.36,0.00:12.80,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:80.4,17.2:0,0:0,0:87,64:62,86:22,50:chr1 g.96885599G>A (intergenic),-:0.33,-:NOT_FOUND,- 1 96885607 rs2151621 T C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6835,C/0.3165;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:C,T:12:4:0:0:8,4:250,118:25.50,0.00:14.80,0.00:10.70,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:80.4,17.2:0,0:0,0:94,71:55,79:22,50:chr1 g.96885606T>C (intergenic),-:0.33,-:NOT_FOUND,- 1 96885705 rs6695876 G A 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8139,A/0.1861;PC=0.817 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:9:4:0:0:3,6:102,183:9.14,0.00:2.86,0.00:6.28,0.00:0.64,0.00:0.81,0.00:0.42,0.00:60,60:34.0,23.2:0,0:0,0:108,62:42,88:22,54:chr1 g.96885704G>A (intergenic),-:0.21,-:NOT_FOUND,- 1 96885899 rs139332977 A G 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.9942,G/0.005791;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:14:0:0:8,8:257,264:0.00,25.39:0.00,22.52:0.00,2.87:0.00,1.00:0.00,0.99:0.00,0.73:60,60:5.8,35.9:0,0:0,0:91,89:59,61:15,15:-,chr1 g.96885898A>G (intergenic):-,0.01:-,NOT_FOUND 1 96885984 rs6672578 C G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8145,G/0.1855;PC=0.379 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:15:6:0:0:8,7:271,246:0.00,23.44:0.00,6.76:0.00,16.68:0.00,0.99:0.00,0.97:0.00,1.00:60,60:29.9,35.1:0,0:0,0:71,61:79,88:28,45:-,chr1 g.96885983C>G (intergenic):-,0.21:-,NOT_FOUND 1 96886108 rs586415 G A 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6835,A/0.3165;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:25:0:0:19,15:581,519:56.99,0.00:36.43,0.00:20.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,5.1:0,0:0,0:67,57:84,93:31,39:chr1 g.96886107G>A (intergenic),-:0.34,-:NOT_FOUND,- 1 96886267 rs587242 G A 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9058,A/0.09425;PC=0.730 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:7:0:0:10,15:307,513:28.16,0.00:5.68,0.00:22.48,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:49.6,1.3:0,0:0,0:107,80:43,70:38,21:chr1 g.96886266G>A (intergenic),-:0.13,-:NOT_FOUND,- 1 96886504 rs545152 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6835,T/0.3165;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:8:1:0:0:2,6:62,178:0.00,18.70:0.00,-0.60:0.00,19.30:0.00,1.00:0.00,0.83:0.00,1.00:60,60:16.5,60.5:0,0:0,0:57,117:93,33:37,16:-,chr1 g.96886503C>T (intergenic):-,0.34:-,NOT_FOUND 1 96887774 rs604370 C T 111 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.07149,T/0.9285;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:14:0:0:29:969:110.73:37.77:72.96:1.00:1.00:1.00:60:42.3:0:0:87:61:42:chr1 g.96887773C>T (intergenic),chr1 g.96887773C>T (intergenic):0.93,0.93:NOT_FOUND,NOT_FOUND 1 96912659 rs10783045 A G 124 nt VT=SNV;PN=G;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.8237,G/0.1763;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:47:0:0:33,43:1036,1263:0.00,124.13:0.00,61.32:0.00,62.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,33.9:0,0:0,0:49,65:98,86:35,38:-,chr1 g.96912658A>G (intergenic):-,0.2:-,NOT_FOUND 1 96913449 rs11165631 C T 180 nt VT=SNV;PN=T;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.8235,T/0.1765;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:140:106:0:0:81,59:2606,1935:0.00,180.27:0.00,109.67:0.00,70.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,63.5:0,0:0,0:62,54:82,87:35,35:-,chr1 g.96913448C>T (intergenic):-,0.2:-,NOT_FOUND 1 96913490 rs11165632 G A 191 nt VT=SNV;PN=T;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.8237,A/0.1763;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:112:0:0:63,88:2056,2899:191.05,0.00:107.97,0.00:83.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.0,7.5:0,0:0,0:62,73:88,74:29,31:chr1 g.96913489G>A (intergenic),-:0.2,-:NOT_FOUND,- 1 96913765 rs4000303 A G 520 nt VT=SNV;PN=C;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.528,G/0.472;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:147:96:0:0:1,146:11,4511:0.09,519.97:0.00,255.77:0.09,264.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:100.0,35.6:0,0:0,0:125,60:1,88:0,35:chr1 g.96913764A>G (intergenic),chr1 g.96913764A>G (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 1 96929627 rs541189299 CTG C 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=310;PC=0.874;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CTG,C:4:5:0:4:1,3:35,134:0.00,10.47:0.00,8.84:0.00,1.63:0.00,0.78:0.00,0.78:0.00,0.87:60,60:0.0,16.3:0,1:0,0:29,37:65,113:0,13:-,chr1 g.96929628_96929629delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 96986415 rs72719775 A ATGTG 7 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3055,ATG/.,ATGTG/0.6945;DB;DBA=NA;PAF=A/0.3055,ATG/.,ATGTG/0.6945;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=198;NP=99;PC=0.017;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATGTG:3:4:3:0:1,2:31,99:0.00,6.55:0.00,1.34:0.00,5.21:0.00,0.94:0.00,0.94:0.00,0.89:60,60:0.0,0.0:0,1:0,0:144,54:7,83:0,9:-,chr1 g.96986415_96986416insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 97144337 rs71071608 CCTTTTTTTTTT C 11 idl,nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:CCTTTTTTTTTT,C:8:11:0:8:4,4:117,253:0.00,11.40:0.00,11.40:0.00,0.00:0.00,0.80:0.00,0.98:0.00,0.56:60,60:29.5,88.8:0,4:0,0:92,67:30,69:10,22:-,chr1 g.97144338_97144348delCTTTTTTTTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 97144338 rs1692176 C T 14 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=201;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:8:4:118:13.67:13.67:0.00:1.00:1.00:0.00:60:29.5:0:0:93:29:10:chr1 g.97144337C>T (intergenic),chr1 g.97144337C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 97144750 rs115639307 T C 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:83:60:0:0:16,67:426,2241:32.63,0.00:26.51,0.00:6.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:39.3,8.0:0,0:0,0:64,75:86,73:43,36:chr1 g.97144749T>C (intergenic),-:0.47,-:NOT_FOUND,- 1 97145014 rs3748786 T C 150 nt VT=SNV;PN=T;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.6821,C/0.3179;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:118:56:0:0:48,1,69:1615,10,2224:149.98,-0.16,0.00:43.02,-0.02,0.00:106.96,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:55,40,55:40.6,96.0,6.6:0,0,0:0,0,0:84,100,82:66,41,67:35,0,40:chr1 g.97145013T>C (intergenic),-:0.3,-:NOT_FOUND,- 1 97187083 rs3748785 A C 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2622,C/0.7378 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,C:9:9:0:0:2,7:70,226:0.00,23.87:0.00,21.98:0.00,1.88:0.00,1.00:0.00,1.00:0.00,0.85:60,60:0.0,87.9:0,0:0,0:71,47:79,103:29,30:-,NM_021190.2(PTBP2) c.-246-u92A>C:-,0.69:-,NOT_FOUND 1 97187174 rs3748784 A G 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.405,G/0.595;PC=0.002;Gene=PTBP2/NM_001300985.1/0;CC=c.-247A>G;VC=5UTR;Gene=PTBP2/NM_001300986.1/0;CC=c.-247A>G;VC=5UTR;Gene=PTBP2/NM_001300987.1/1;CC=c.-370A>G;VC=5UTR;Gene=PTBP2/NM_001300988.1/0;CC=c.-247A>G;VC=5UTR;Gene=PTBP2/NM_001300989.1/0;CC=c.-247A>G;VC=5UTR;Gene=PTBP2/NM_001300990.1/0;CC=c.-327A>G;VC=5UTR;Gene=PTBP2/NM_021190.3/0;CC=c.-247A>G;VC=5UTR;Gene=PTBP2/NR_125357.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:12:11:0:0:3,9:95,285:0.00,29.86:0.00,26.11:0.00,3.75:0.00,1.00:0.00,1.00:0.00,0.83:60,60:0.0,52.8:0,0:0,0:18,93:133,58:15,43:-,NM_021190.2(PTBP2) c.-246-u1A>G:-,0.57:-,NOT_FOUND 1 97187429 . G . . NT END=97189119;NT GT ./. 1 97189091 rs3762411 G A 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.3682,A/0.6318;Gene=PTBP2/NM_001300985.1/0;CC=c.9-29G>A;VC=Intron;Gene=PTBP2/NM_001300986.1/0;CC=c.33-29G>A;VC=Intron;Gene=PTBP2/NM_001300987.1/1;CC=c.-115-29G>A;VC=Intron;Gene=PTBP2/NM_001300988.1/0;CC=c.9-29G>A;VC=Intron;Gene=PTBP2/NM_001300989.1/0;CC=c.9-29G>A;VC=Intron;Gene=PTBP2/NM_001300990.1/0;CC=c.-72-29G>A;VC=Intron;Gene=PTBP2/NM_021190.3/0;CC=c.9-29G>A;VC=Intron;Gene=PTBP2/NR_125357.1/0;VC=NonCoding;Gene=PTBP2/NR_125356.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:29:0:0:16,21:537,694:50.33,0.00:24.26,0.00:26.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.6,2.2:0,0:0,0:71,56:79,94:17,32:NM_021190.2(PTBP2) c.9-29G>A,-:0.61,-:0.592419,- 1 97189151 . G . . NT END=97216980;NT GT ./. 1 97189288 rs3762410 T A 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6659,A/0.3341;PC=0.008;Gene=PTBP2/NM_001300985.1/0;CC=c.39+138T>A;VC=Intron;Gene=PTBP2/NM_001300986.1/0;CC=c.63+138T>A;VC=Intron;Gene=PTBP2/NM_001300987.1/1;CC=c.-85+138T>A;VC=Intron;Gene=PTBP2/NM_001300988.1/0;CC=c.39+138T>A;VC=Intron;Gene=PTBP2/NM_001300989.1/0;CC=c.39+138T>A;VC=Intron;Gene=PTBP2/NM_001300990.1/0;CC=c.-42+138T>A;VC=Intron;Gene=PTBP2/NM_021190.3/0;CC=c.39+138T>A;VC=Intron;Gene=PTBP2/NR_125357.1/0;VC=NonCoding;Gene=PTBP2/NR_125356.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,T:13:0:0:0:4,9:127,272:11.13,0.00:0.00,0.00:11.13,0.00:0.79,0.00:0.00,0.00:0.79,0.00:60,60:42.5,6.1:0,0:0,0:139,97:11,54:1,25:NM_021190.2(PTBP2) c.39+138T>A,-:0.32,-:NOT_FOUND,- 1 97217057 . G . . NT END=97235258;NT GT ./. 1 97235432 . G . . NT END=97236263;NT GT ./. 1 97236130 rs3762409 G A 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.3688,A/0.6312;Gene=PTBP2/NM_001300985.1/0;CC=c.289-134G>A;VC=Intron;Gene=PTBP2/NM_001300986.1/0;CC=c.313-134G>A;VC=Intron;Gene=PTBP2/NM_001300987.1/1;CC=c.322-134G>A;VC=Intron;Gene=PTBP2/NM_001300988.1/0;CC=c.289-134G>A;VC=Intron;Gene=PTBP2/NM_001300989.1/0;CC=c.289-134G>A;VC=Intron;Gene=PTBP2/NM_001300990.1/0;CC=c.133-134G>A;VC=Intron;Gene=PTBP2/NM_021190.3/0;CC=c.289-134G>A;VC=Intron;Gene=PTBP2/NR_125357.1/0;VC=NonCoding;Gene=PTBP2/NR_125356.1/0;VC=NonCoding;DM=PTBP2/RRM_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:10:10:0:0:4,6:122,206:11.18,0.00:11.18,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:39.2,29.8:0,0:0,0:25,93:125,57:23,39:NM_021190.2(PTBP2) c.289-134G>A,-:0.61,-:NOT_FOUND,- 1 97236408 . G . . NT END=97243140;NT GT ./. 1 97243306 . G . . NT END=97243391;NT GT ./. 1 97243503 . G . . NT END=97250614;NT GT ./. 1 97250811 . G . . NT END=97270340;NT GT ./. 1 97270496 . G . . NT END=97271974;NT GT ./. 1 97272009 . G . . NT END=97272421;NT GT ./. 1 97272515 . G . . NT END=97278267;NT GT ./. 1 97278485 . G . . NT END=97278584;NT GT ./. 1 97278663 . G . . NT END=97278828;NT GT ./. 1 97278804 rs273886 G A 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.369,A/0.631;PC=0.976;Gene=PTBP2/NM_001300985.1/0;CC=c.1482-25G>A;VC=Intron;Gene=PTBP2/NM_001300986.1/0;CC=c.1491-25G>A;VC=Intron;Gene=PTBP2/NM_001300987.1/1;CC=c.1515-25G>A;VC=Intron;Gene=PTBP2/NM_001300988.1/0;CC=c.1482-28G>A;VC=Intron;Gene=PTBP2/NM_001300989.1/0;CC=c.1467-25G>A;VC=Intron;Gene=PTBP2/NM_001300990.1/0;CC=c.1311-25G>A;VC=Intron;Gene=PTBP2/NM_021190.3/0;CC=c.1467-28G>A;VC=Intron;Gene=PTBP2/NR_125357.1/0;VC=NonCoding;Gene=PTBP2/NR_125356.1/0;VC=NonCoding;DM=PTBP2/RRM_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:26:0:0:16,18:531,603:50.53,0.00:22.01,0.00:28.52,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.2,11.5:0,0:0,0:57,65:94,84:36,34:NM_021190.2(PTBP2) c.1467-28G>A,-:0.61,-:0.590748,- 1 97278962 . A . . NT END=97544531;NT GT ./. 1 97405441 rs60772953 ATG A 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=262;PC=0.001;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:ATG,A:4:4:0:3:1,3:34,96:0.00,10.05:0.00,4.73:0.00,5.33:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,4.7:0,0:0,0:132,85:19,58:0,11:-,chr1 g.97405442_97405443delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 97417734 rs72313727 GGTGTGTGT G 6 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GGTGTGTGT/0.1378,G/0.8622;DB;DBA=NA;PAF=GGTGTGTGT/0.1378,G/0.8622;NP=34;PC=0.004;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G:2:4:0:4:2:125:6.35:4.56:1.79:0.94:0.94:0.67:60:20.5:2:0:70:79:14:chr1 g.97417735_97417742delGTGTGTGT (intergenic),chr1 g.97417735_97417742delGTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 97513427 . GCACACA G 9 idl,rn VT=DEL;SST=Single;DP=6;NP=1;PC=0.242;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GCACACA,G:4:6:0:5:1,3:33,155:0.00,9.33:0.00,9.83:0.00,-0.50:0.00,0.73:0.00,0.73:0.00,0.89:60,60:0.0,20.3:0,2:0,0:15,51:66,100:0,8:-,chr1 g.97513428_97513433delCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 97513579 rs290848 C T 18 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.05791,T/0.9421;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:1:0:0:5:159:18.28:1.59:16.70:1.00:1.00:1.00:60:37.6:0:0:104:44:35:chr1 g.97513578C>T (intergenic),chr1 g.97513578C>T (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 1 97544703 . C . . NT END=97547885;NT GT ./. 1 97544771 rs290855 T C 66 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.1641,C/0.8359;Gene=DPYD/NM_000110.3/1;CC=c.2908-69A>G;VC=Intron;DM=DPYD/Fer4_21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:7:0:0:21,12:657,394:66.26,0.00:6.41,0.00:59.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,3.2:0,0:0,0:104,95:45,56:30,31:NM_000110.3(DPYD) c.2908-69A>G,-:0.85,-:NOT_FOUND,- 1 97547831 rs290854 G A 136 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=3485;Gene=DPYD/NM_000110.3/1;CC=c.2907+55C>T;VC=Intron;DM=DPYD/Fer4_21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:31:0:0:36:1189:136.07:103.66:32.40:1.00:1.00:1.00:60:40.6:0:0:41:106:26:NM_000110.3(DPYD) c.2907+55C>T,NM_000110.3(DPYD) c.2907+55C>T:1,1:NOT_FOUND,NOT_FOUND 1 97548027 . C . . NT END=97564044;NT GT ./. 1 97564189 . C . . NT END=97658624;NT GT ./. 1 97658395 rs4950023 C T 8 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2486,T/0.7514;PC=1.000;Gene=DPYD/NM_000110.3/1;CC=c.2622+230G>A;VC=Intron;Gene=DPYD-AS1/NR_046590.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:7:7:0:0:4,3:117,91:0.00,8.46:0.00,8.46:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:17.8,30.3:0,0:0,0:57,3:93,148:26,1:-,NM_000110.3(DPYD) c.2622+230G>A:-,0.73:-,NOT_FOUND 1 97658805 . C . . NT END=97700407;NT GT ./. 1 97700551 . C . . NT END=97761252;NT GT ./. 1 97761119 rs1879373 T C 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4878,C/0.5122;Gene=DPYD/NM_000110.3/1;CC=c.2299+9696A>G;VC=Intron;Gene=DPYD-AS1/NR_046590.1/0;VC=NonCoding;DM=DPYD/DHO_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:251:29.33:29.33:0.00:1.00:1.00:0.00:60:41.2:0:0:48:102:28:NM_000110.3(DPYD) c.2299+9696A>G,NM_000110.3(DPYD) c.2299+9696A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 97761316 . C . . NT END=97770814;NT GT ./. 1 97770935 . C . . NT END=97771732;NT GT ./. 1 97771854 . C . . NT END=97839116;NT GT ./. 1 97771947 rs7556439 C A 145 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7456,A/0.2544;PC=0.024;Gene=DPYD/NM_000110.3/1;CC=c.2059-94G>T;VC=Intron;Gene=DPYD-AS1/NR_046590.1/0;VC=NonCoding;DM=DPYD/DHO_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:8:0:0:41:1257:145.09:19.13:125.96:1.00:1.00:1.00:60:42.3:0:0:109:42:21:NM_000110.3(DPYD) c.2059-94G>T,NM_000110.3(DPYD) c.2059-94G>T:0.27,0.27:NOT_FOUND,NOT_FOUND 1 97779053 rs58100703 C CTGTG 13 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7268,CTG/.,CTGTG/0.2216,CTGTGTG/0.05152;DB;DBA=NA;PAF=C/0.7268,CTG/.,CTGTG/0.2216,CTGTGTG/0.05152;NP=129;NP=33;Gene=DPYD/NM_000110.3/1;CC=c.2059-7201_2059-7200insCACA;VC=Intron;Gene=DPYD-AS1/NR_046590.1/0;VC=NonCoding;DM=DPYD/DHO_dh;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,CTGTG:6:6:6:0:2,4:60,196:0.00,12.80:0.00,9.93:0.00,2.87:0.00,0.87:0.00,0.73:0.00,0.73:60,60:17.5,0.0:0,2:0,0:111,70:38,80:10,12:-,NM_000110.3(DPYD) c.2059-7201_2059-7200insCACA:-,NOT_FOUND:-,NOT_FOUND 1 97839201 . C . . NT END=97847948;NT GT ./. 1 97848018 . C . . NT END=97915614;NT GT ./. 1 97915780 . C . . NT END=97979761;NT GT ./. 1 97979675 rs1556796 C G 29 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4878,G/0.5122;PC=0.206;Gene=DPYD/NM_000110.3/1;CC=c.1740+1607G>C;VC=Intron;DM=DPYD/DHO_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:19:0:0:11,9:371,311:0.00,29.42:0.00,28.12:0.00,1.30:0.00,1.00:0.00,1.00:0.00,0.91:60,60:1.0,79.8:0,0:0,0:27,31:123,120:14,9:-,NM_000110.3(DPYD) c.1740+1607G>C:-,0.49:-,NOT_FOUND 1 97979726 rs7545340 G A 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6709,A/0.3291;PC=1.000;Gene=DPYD/NM_000110.3/1;CC=c.1740+1556C>T;VC=Intron;DM=DPYD/DHO_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:31:0:0:12,22:387,775:34.84,0.00:27.46,0.00:7.38,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:68.0,1.5:0,0:0,0:76,44:74,103:22,27:NM_000110.3(DPYD) c.1740+1556C>T,-:0.32,-:NOT_FOUND,- 1 97979781 . C . . NT END=97981281;NT GT ./. 1 97981242 rs2811178 T C 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3482,C/0.6518;Gene=DPYD/NM_000110.3/1;CC=c.1740+40A>G;VC=Intron;DM=DPYD/DHO_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:24:0:0:14,12:430,387:41.84,0.00:35.96,0.00:5.88,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.0,2.0:0,0:0,0:48,31:103,120:18,18:NM_000110.3(DPYD) c.1740+40A>G,-:0.64,-:0.599041,- 1 97981498 . C . . NT END=98015115;NT GT ./. 1 97991534 rs71071658 AGT A 11 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AGT/0.606,A/0.394;DB;DBA=NA;PAF=AGT/0.606,A/0.394;NP=148;PC=0.001;Gene=DPYD/NM_000110.3/1;CC=c.1525-10039_1525-10038delAC;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AGT,A:5:4:0:5:1,4:35,142:0.00,11.48:0.00,7.78:0.00,3.70:0.00,0.93:0.00,0.99:0.00,0.99:3,60:24.0,16.5:0,1:0,0:120,15:31,125:0,8:-,NM_000110.3(DPYD) c.1525-10039_1525-10038delAC:-,NOT_FOUND:-,NOT_FOUND 1 98011830 . TA T 7 rn VT=DEL;SST=Single;DP=42;NP=11;PC=0.862;Gene=DPYD/NM_000110.3/1;CC=c.1524+3285delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,TA,I,T:42:28:2:3:1,36,2,3:32,979,64,98:1.68,0.00,3.96,6.65:1.87,0.00,3.06,4.64:-0.19,0.00,0.90,2.01:0.00,0.00,0.00,0.36:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.71:60,60,60,60:32.0,27.0,56.0,0.0:0,0,0,0:0,0,0,0:138,81,53,38:13,66,97,113:0,50,50,6:-,NM_000110.3(DPYD) c.1524+3285delT:-,NOT_FOUND:-,NOT_FOUND 1 98015301 . C . . NT END=98039315;NT GT ./. 1 98039527 . C . . NT END=98058773;NT GT ./. 1 98058944 . C . . NT END=98060614;NT GT ./. 1 98060723 . C . . NT END=98144650;NT GT ./. 1 98144739 . C . . NT END=98157272;NT GT ./. 1 98157355 . C . . NT END=98164906;NT GT ./. 1 98165104 . C . . NT END=98185313;NT GT ./. 1 98185527 rs2151562 A G 257 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.002196,G/0.9978;NP=13;PC=0.007;Gene=DPYD/NM_000110.3/1;CC=c.483+1539T>C;VC=Intron;Gene=DPYD/NM_001160301.1/0;CC=c.*917T>C;VC=3UTR;DM=DPYD/Fer4_20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:52:0:0:70:2241:257.34:162.41:94.94:1.00:1.00:1.00:60:39.6:0:0:79:67:47:NM_001160301.1(DPYD) c.*917T>C,NM_001160301.1(DPYD) c.*917T>C:1,1:NOT_FOUND,NOT_FOUND 1 98185720 rs537506379 T TCA 93 rn VT=INS;SST=Single;DP=90;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=10;Gene=DPYD/NM_000110.3/1;CC=c.483+1345_483+1346insTG;VC=Intron;Gene=DPYD/NM_001160301.1/0;CC=c.*723_*724insTG;VC=3UTR;DM=DPYD/Fer4_20;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TCA,D:90:59:31:2:6,51,31,2:188,1574,1023,66:13.10,0.00,93.42,3.75:6.28,0.00,57.96,4.02:6.82,0.00,35.46,-0.27:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:47.2,9.9,17.9,16.0:1,0,0,0:0,0,0,0:100,73,39,54:47,70,101,96:15,36,25,29:-,NM_001160301.1(DPYD) c.*722_*723dupTG:-,NOT_FOUND:-,NOT_FOUND 1 98186077 rs1333718 T C 254 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.002196,C/0.9978;NP=48;PC=1.000;Gene=DPYD/NM_000110.3/1;CC=c.483+989A>G;VC=Intron;Gene=DPYD/NM_001160301.1/0;CC=c.*367A>G;VC=3UTR;DM=DPYD/Fer4_20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:C:65:38:0:0:65:2229:253.87:111.75:142.12:1.00:1.00:1.00:60:40.2:0:0:77:73:42:NM_001160301.1(DPYD) c.=,NM_001160301.1(DPYD) c.=:1,1:NOT_FOUND,NOT_FOUND 1 98186483 . C . . NT END=98187065;NT GT ./. 1 98187228 . C . . NT END=98205947;NT GT ./. 1 98206036 . C . . NT END=98293669;NT GT ./. 1 98279471 rs59229553 GACAC G 20 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=132;Gene=DPYD/NM_000110.3/1;CC=c.233+14195_233+14198delGTGT;VC=Intron;Gene=DPYD/NM_001160301.1/0;CC=c.233+14195_233+14198delGTGT;VC=Intron;DM=DPYD/Fer4_20;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:GACAC,G:8:8:0:7:2,6:68,222:0.00,19.75:0.00,9.25:0.00,10.50:0.00,0.99:0.00,1.00:0.00,0.99:60,60:10.5,38.8:0,1:0,0:125,36:26,106:15,9:-,NM_000110.3(DPYD) c.233+14195_233+14198delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 98293753 . C . . NT END=98348819;NT GT ./. 1 98348885 rs1801265 G A 116 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=in-clinvar;PAF=A/0.2602,G/0.7398;PC=0.518;Gene=DPYD/NM_000110.3/1;CC=c.85C>T;ProtCh=p.R29C;VC=Missense;Gene=DPYD/NM_001160301.1/0;CC=c.85C>T;ProtCh=p.R29C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:21:0:0:32:1007:115.89:52.62:63.27:1.00:1.00:1.00:60:34.8:0:0:76:59:29:NM_000110.3(DPYD) c.=,NM_000110.3(DPYD) c.=:0.77,0.77:0.7159,0.7159 1 98348931 . C . . NT END=98386439;NT GT ./. 1 98386479 . G . . NT END=99127287;NT GT ./. 1 98518691 rs61786700 T A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,T:4:2:0:0:2,2:68,48:6.56,0.00:5.26,0.00:1.29,0.00:0.94,0.00:0.79,0.00:0.89,0.00:60,60:133.5,61.0:0,0:0,0:47,127:99,24:4,2:NR_029679.1(MIR137) n.-6964A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 98518693 rs4525092 T A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;NP=3;NP=3;NP=302 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,T:4:2:0:0:3,1:87,34:9.15,0.00:5.73,0.00:3.42,0.00:0.85,0.00:0.95,0.00:0.99,0.00:60,60:129.7,0.0:0,0:0,0:54,131:89,20:9,0:NR_029679.1(MIR137) n.-6966A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 98534800 rs71792921 GCACACACA G 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=35;PC=0.019;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:4:4:120:13.91:7.50:6.40:1.00:1.00:1.00:60:17.2:0:0:56:73:14:chr1 g.98534801_98534808delCACACACA (intergenic),chr1 g.98534801_98534808delCACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 98594773 rs3075682 T TACAC 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2033,TAC/.,TACAC/0.7967,TACACAC/.,TACACACAC/.;DB;DBA=NA;PAF=T/0.2033,TAC/.,TACAC/0.7967,TACACAC/.;NP=1;NP=119;NP=13;NP=23;PC=0.017;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TACAC:2:2:4:0:2:125:6.55:1.34:5.21:0.94:0.79:0.89:60:6.0:2:0:72:78:21:chr1 g.98594773_98594774insACAC (intergenic),chr1 g.98594773_98594774insACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 98876072 rs377523345 C CGCGCGCGT 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=12;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,CGCGCGCGT:6:5:4:0:3,3:99,126:0.00,9.30:0.00,4.36:0.00,4.94:0.00,0.69:0.00,0.93:0.00,0.89:60,60:28.0,22.0:1,1:0,0:89,60:43,90:38,15:-,chr1 g.98876072_98876073insGCGCGCGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 98891957 rs397980956 GAC G 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=27;PC=0.032;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:GAC,G:3:4:0:3:1,2:35,102:0.00,6.85:0.00,7.00:0.00,-0.15:0.00,0.94:0.00,0.94:0.00,0.89:60,60:0.0,33.5:0,1:0,0:34,59:34,78:0,11:-,chr1 g.98891958_98891959delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 99099885 rs4245674 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2404,A/0.7596;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:4:0:0:3,1:104,32:10.85,0.00:7.35,0.00:3.50,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:73.7,0.0:0,0:0,0:70,47:36,57:3,0:chr1 g.99099884G>A (intergenic),-:0.75,-:NOT_FOUND,- 1 99127205 rs12723363 A G 262 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.1348,G/0.8652;PC=0.087 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:79:69:0:0:79:2248:261.60:185.48:76.12:1.00:1.00:1.00:60:38.5:0:0:40:111:20:NM_015976.4(SNX7) c.-52-u31A>G,NM_015976.4(SNX7) c.-52-u31A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 99127392 rs9728148 T C 516 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.004593,C/0.9954;PC=0.016;Gene=SNX7/NM_015976.4/1;CC=c.105T>C;ProtCh=p.S35=;VC=Silent;Gene=SNX7/NM_152238.3/0;CC=c.105T>C;ProtCh=p.S35=;VC=Silent;Gene=SNX7/NR_033716.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:142:100:0:0:142:4485:515.80:260.70:255.10:1.00:1.00:1.00:60:42.7:0:0:79:69:40:NM_015976.4(SNX7) c.=,NM_015976.4(SNX7) c.=:0.98,0.98:NOT_FOUND,NOT_FOUND 1 99127468 . G . . NT END=99128252;NT GT ./. 1 99128373 . G . . NT END=99150440;NT GT ./. 1 99143547 rs9285630 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.126;Gene=SNX7/NM_015976.4/1;CC=c.181-6894G>A;VC=Intron;Gene=SNX7/NM_152238.3/0;CC=c.181-6894G>A;VC=Intron;Gene=SNX7/NR_033716.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:2:0:0:3,1:88,35:9.25,0.00:2.75,0.00:6.50,0.00:0.85,0.00:0.95,0.00:0.99,0.00:60,60:29.3,0.0:0,1:0,0:55,26:95,72:22,0:NM_015976.4(SNX7) c.181-6894G>A,-:0.69,-:NOT_FOUND,- 1 99150624 . G . . NT END=99156630;NT GT ./. 1 99150635 rs9433747 G A 145 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.1416,A/0.8584,T/.;Gene=SNX7/NM_015976.4/1;CC=c.363+12G>A;VC=Intron;Gene=SNX7/NM_152238.3/0;CC=c.363+12G>A;VC=Intron;Gene=SNX7/NR_033716.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A:40:17:0:0:40:1255:144.51:42.16:102.35:1.00:1.00:1.00:60:37.2:0:0:102:41:20:NM_015976.4(SNX7) c.363+12G>A,NM_015976.4(SNX7) c.363+12G>A:0.88,0.88:0.869518,0.869518 1 99156742 . G . . NT END=99157090;NT GT ./. 1 99156894 rs397758856 AT A 22 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=AT/0.8357,A/0.1643;DB;DBA=NA;PAF=AT/0.8357,A/0.1643;NP=128;Gene=SNX7/NM_015976.4/1;CC=c.474+163delT;VC=Intron;Gene=SNX7/NM_152238.3/0;CC=c.474+163delT;VC=Intron;Gene=SNX7/NR_033716.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:AT,A:12:5:0:7:5,7:158,219:0.00,21.70:0.00,5.85:0.00,15.85:0.00,0.99:0.00,0.98:0.00,1.00:60,70:18.8,10.3:0,0:0,0:40,82:111,69:20,34:-,NM_015976.4(SNX7) c.474+154delT:-,NOT_FOUND:-,NOT_FOUND 1 99157256 . G . . NT END=99161073;NT GT ./. 1 99157472 rs28541721 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=65;Gene=SNX7/NM_015976.4/1;CC=c.639+217C>T;VC=Intron;Gene=SNX7/NM_152238.3/0;CC=c.474+731C>T;VC=Intron;Gene=SNX7/NR_033716.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:1:0:0:1,3:33,97:0.00,10.15:0.00,3.65:0.00,6.50:0.00,0.85:0.00,0.83:0.00,0.99:60,70:49.0,32.3:0,0:0,0:113,123:38,23:0,6:-,NM_015976.4(SNX7) c.639+217C>T:-,NOT_FOUND:-,NOT_FOUND 1 99160827 rs12138303 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8762,T/0.1238;Gene=SNX7/NM_015976.4/1;CC=c.640-247C>T;VC=Intron;Gene=SNX7/NM_152238.3/0;CC=c.475-247C>T;VC=Intron;Gene=SNX7/NR_033716.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:5:5:0:0:2,3:65,86:0.00,8.57:0.00,8.57:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:10.5,28.7:0,0:0,0:18,19:132,132:15,6:-,NM_015976.4(SNX7) c.640-247C>T:-,0.14:-,NOT_FOUND 1 99161273 . G . . NT END=99164261;NT GT ./. 1 99164246 . CT C 24 idl,rn VT=DEL;SST=Single;DP=84;NP=107;PC=0.001;Gene=SNX7/NM_015976.4/1;CC=c.839-3delT;VC=Intron;Gene=SNX7/NM_152238.3/0;CC=c.674-3delT;VC=Intron;Gene=SNX7/NR_033716.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:CT,I,C:82:77:10:11:63,9,10:2048,307,353:0.00,19.88,24.07:0.00,18.97,18.87:0.00,0.91,5.20:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.84:60,60,60:21.5,33.8,15.5:0,1,1:0,0,0:44,48,44:97,94,106:27,23,14:-,NM_015976.4(SNX7) c.839-15delT:-,NOT_FOUND:-,NOT_FOUND 1 99164462 . G . . NT END=99167372;NT GT ./. 1 99167215 rs5776431 CA C 34 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=712;Gene=SNX7/NM_015976.4/1;CC=c.1039-145delA;VC=Intron;Gene=SNX7/NM_152238.3/0;CC=c.874-145delA;VC=Intron;Gene=SNX7/NR_033716.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:CA,C:11:11:0:10:1,10:35,308:0.00,34.11:0.00,34.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,28.5:0,0:0,0:58,24:93,127:0,10:-,NM_015976.4(SNX7) c.1039-157delA:-,NOT_FOUND:-,NOT_FOUND 1 99167460 . G . . NT END=99203792;NT GT ./. 1 99203946 . G . . NT END=99225609;NT GT ./. 1 99225627 rs2019213 G A 82 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1246,A/0.8754;PC=0.986;Gene=SNX7/NM_015976.4/1;CC=c.1296G>A;ProtCh=p.E432=;VC=Silent;Gene=SNX7/NM_152238.3/0;CC=c.1131G>A;ProtCh=p.E377=;VC=Silent;Gene=SNX7/NR_033716.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:20:0:0:23:715:82.41:48.57:33.84:1.00:1.00:1.00:60:34.8:0:0:71:72:28:NM_015976.4(SNX7) c.1296G>A (p.(=)),NM_015976.4(SNX7) c.1296G>A (p.(=)):0.86,0.86:0.957789,0.957789 1 99225688 . T . . NT END=99358627;NT GT ./. 1 99358661 . C . . NT END=99380341;NT GT ./. 1 99380134 rs1031962 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3187,G/0.6813;Gene=PLPPR5/NM_001010861.2/0;CC=c.918+223T>C;VC=Intron;Gene=PLPPR5/NM_001037317.1/1;CC=c.933+208T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:45.8:0:0:52:97:16:NM_001037317.1(LPPR5) c.933+208T>C,NM_001037317.1(LPPR5) c.933+208T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 99380477 . C . . NT END=99387437;NT GT ./. 1 99387615 . C . . NT END=99418625;NT GT ./. 1 99387628 rs79819201 T TA 109 rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3065,TA/0.6935,TAA/.,TTA/.,TTTAGA/.;NP=1;NP=2851;PC=0.055;Gene=PLPPR5/NM_001010861.2/0;CC=c.622-15dupT;VC=Intron;Gene=PLPPR5/NM_001037317.1/1;CC=c.622-15dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:T,TA:40:18:34:0:7,33:197,1048:0.00,109.26:0.00,36.89:0.00,72.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.6,6.3:0,1:0,0:142,105:8,45:6,24:-,NM_001037317.1(LPPR5) c.622-15_622-14insT:-,NOT_FOUND:-,0.728195 1 99418877 . C . . NT END=99422164;NT GT ./. 1 99418911 . T TTGTG 81 idl,rn VT=INS;SST=Single;DP=114;NP=14;NP=6;Gene=PLPPR5/NM_001010861.2/0;CC=c.371-36_371-35insCACA;VC=Intron;Gene=PLPPR5/NM_001037317.1/1;CC=c.371-36_371-35insCACA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TTGTG:100:66:45:0:1,68,31:34,2127,1355:1.57,0.00,81.41:-0.13,0.00,26.18:1.70,0.00,55.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:34.0,16.6,23.9:1,0,14:0,0,0:106,118,62:45,30,80:0,17,15:-,NM_001037317.1(LPPR5) c.371-36_371-35insCACA:-,NOT_FOUND:-,NOT_FOUND 1 99421985 rs12120274 G A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8381,A/0.1619;PC=0.001;Gene=PLPPR5/NM_001010861.2/0;CC=c.370+180C>T;VC=Intron;Gene=PLPPR5/NM_001037317.1/1;CC=c.370+180C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:36.2:0:0:21:128:12:NM_001037317.1(LPPR5) c.370+180C>T,NM_001037317.1(LPPR5) c.370+180C>T:0.18,0.18:NOT_FOUND,NOT_FOUND 1 99422298 . C . . NT END=99469990;NT GT ./. 1 99469826 rs79160508 A AC 24 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8261,AC/0.1739;DB;DBA=NA;PAF=A/0.8261,AC/0.1739;NP=26;PC=0.002;Gene=PLPPR5/NM_001010861.2/0;CC=c.237+164dupG;VC=Intron;Gene=PLPPR5/NM_001037317.1/1;CC=c.237+164dupG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,AC:12:12:8:0:4,8:115,231:0.00,23.61:0.00,23.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,10.5:0,0:0,0:86,40:64,110:21,22:-,NM_001037317.1(LPPR5) c.237+164_237+165insG:-,0.18:-,NOT_FOUND 1 99470228 . G . . NT END=99730005;NT GT ./. 1 99470269 rs12057990 T C 166 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.7444,C/0.2556;PC=0.008;Gene=PLPPR5/NM_001010861.2/0;CC=c.-42A>G;VC=5UTR;Gene=PLPPR5/NM_001037317.1/1;CC=c.-42A>G;VC=5UTR;Gene=LOC100129620/NR_033940.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:C:44:20:0:0:44:1453:166.23:52.40:113.83:1.00:1.00:1.00:60:41.3:0:0:98:50:21:NM_001037317.1(LPPR5) c.-42A>G,NM_001037317.1(LPPR5) c.-42A>G:0.26,0.26:0.148844,0.148844 1 99470309 rs544999092 AC A 59 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=AC/0.9812,A/0.01877;NP=8;PC=0.631;Gene=PLPPR5/NM_001010861.2/0;CC=c.-83delG;VC=5UTR;Gene=PLPPR5/NM_001037317.1/1;CC=c.-83delG;VC=5UTR;Gene=LOC100129620/NR_033940.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,G,A:35:10:0:20:14,1,20:419,12,596:0.00,0.18,59.15:0.00,-0.04,7.08:0.00,0.21,52.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:43.7,51.0,32.7:0,0,0:0,0,0:113,33,116:37,118,33:23,0,22:-,NM_001037317.1(LPPR5) c.-84G[1]:-,NOT_FOUND:-,NOT_FOUND 1 99474093 . TAA T 12 idl,rn VT=DEL;SST=Single;DP=13;NP=7;PC=0.155;Gene=LOC100129620/NR_033940.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,TAA,I,T:12:0:1:6:1,6,1,4:12,141,32,156:0.43,0.00,2.36,11.82:0.00,0.00,0.00,0.00:0.43,0.00,2.36,11.82:0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.79:60,60,60,60:253.0,27.7,0.0,8.8:0,0,0,1:0,0,0,0:113,146,18,66:24,5,133,85:0,1,0,14:-,NR_033940.1(LOC100129620) n.370+3893_370+3894delAA:-,NOT_FOUND:-,NOT_FOUND 1 99641302 rs34396956 AAC A 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AAC/0.736,A/0.264;NP=49;PC=0.076;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AAC,A:5:4:0:4:1,4:33,136:0.00,14.42:0.00,7.26:0.00,7.16:0.00,0.96:0.00,1.00:0.00,1.00:49,60:0.0,17.5:0,0:0,0:15,103:49,44:0,6:-,chr1 g.99641303_99641304delAC (intergenic):-,0.24:-,NOT_FOUND 1 99730228 . G . . NT END=99753520;NT GT ./. 1 99753707 . G . . NT END=99762293;NT GT ./. 1 99762424 . G . . NT END=99764590;NT GT ./. 1 99762659 rs819908 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4181,C/0.5819;PC=0.002;Gene=PLPPR4/NM_001166252.1/0;CC=c.538+236T>C;VC=Intron;Gene=PLPPR4/NM_014839.4/1;CC=c.538+236T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:5:0:0:0:3,2:103,66:10.27,0.00:0.00,0.00:10.27,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:45.0,0.0:0,0:0,0:104,125:46,25:5,4:NM_014839.4(LPPR4) c.538+236T>C,-:0.59,-:NOT_FOUND,- 1 99764303 rs819911 T C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4099,C/0.5901;Gene=PLPPR4/NM_001166252.1/0;CC=c.539-288T>C;VC=Intron;Gene=PLPPR4/NM_014839.4/1;CC=c.539-288T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:4:0:0:2,2:71,64:6.85,0.00:6.85,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:35.5,4.0:0,0:0,0:51,31:100,120:19,8:NM_014839.4(LPPR4) c.539-288T>C,-:0.6,-:NOT_FOUND,- 1 99764787 . G . . NT END=99766464;NT GT ./. 1 99766523 . G . . NT END=99767279;NT GT ./. 1 99767454 . G . . NT END=99771240;NT GT ./. 1 99772567 . G . . NT END=100111873;NT GT ./. 1 99965875 . ATATATATATGTGTGTGTGTGTG A 13 nt VT=DEL;SST=Single;DP=5;NP=11;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:6:4:152:13.41:7.84:5.57:0.96:1.00:0.97:70:18.2:1:0:76:75:31:chr1 g.99965876_99965897delTATATATATGTGTGTGTGTGTG (intergenic),chr1 g.99965876_99965897delTATATATATGTGTGTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 99973909 rs12137726 G A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4597,A/0.5403 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,G:7:2:0:0:5,2:125,55:13.02,0.00:5.25,0.00:7.77,0.00:0.98,0.00:0.93,0.00:1.00,0.00:60,60:44.0,36.5:0,0:0,0:89,86:13,63:33,41:chr1 g.99973908G>A (intergenic),-:0.52,-:NOT_FOUND,- 1 99974287 rs10127655 T C 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.003994,C/0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:13:0:0:15:462:53.28:35.67:17.61:1.00:1.00:1.00:60:86.9:0:0:75:76:34:chr1 g.99974286T>C (intergenic),chr1 g.99974286T>C (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 99974321 rs56014715 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.3273,C/0.6727 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,G,T:21:16:0:0:8,1,12:188,13,332:16.76,0.31,0.00:12.65,-0.14,0.00:4.10,0.45,0.00:0.99,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,56,60:82.9,99.0,60.4:0,0,0:0,0,0:69,42,53:55,93,82:42,0,28:chr1 g.99974320T>C (intergenic),-:0.64,-:NOT_FOUND,- 1 100111919 . G . . NT END=100127874;NT GT ./. 1 100127956 . G . . NT END=100133197;NT GT ./. 1 100133323 . G . . NT END=100152231;NT GT ./. 1 100133438 rs143626158 CT C 31 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=243;PC=0.439;Gene=PALMD/NM_017734.4/1;CC=c.251+130delT;VC=Intron;DM=PALMD/Paralemmin;DM=PALMD/Paralemmin;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:30:6:0:15:19,11:587,436:0.00,31.06:0.00,5.03:0.00,26.03:0.00,1.00:0.00,0.89:0.00,1.00:60,60:17.2,31.0:0,3:0,0:132,71:16,77:15,16:-,NM_017734.4(PALMD) c.251+117delT:-,NOT_FOUND:-,NOT_FOUND 1 100133510 rs1416230 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.497,T/0.503;Gene=PALMD/NM_017734.4/1;CC=c.251+188C>T;VC=Intron;DM=PALMD/Paralemmin;DM=PALMD/Paralemmin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:1:0:0:9,10:254,317:0.00,30.76:0.00,2.09:0.00,28.67:0.00,1.00:0.00,0.68:0.00,1.00:60,60:31.0,52.8:0,0:0,0:81,87:64,63:36,18:-,NM_017734.4(PALMD) c.251+188C>T:-,0.54:-,NOT_FOUND 1 100152347 . G . . NT END=100152485;NT GT ./. 1 100152443 rs1338576 T C 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.5563,C/0.4437;PC=0.011;Gene=PALMD/NM_017734.4/1;CC=c.367-43T>C;VC=Intron;DM=PALMD/Paralemmin;DM=PALMD/Paralemmin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:24:0:0:22,19:753,591:73.52,0.00:35.96,0.00:37.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,11.9:0,0:0,0:72,77:78,72:43,27:NM_017734.4(PALMD) c.367-43T>C,-:0.47,-:0.507763,- 1 100152520 . G . . NT END=100152631;NT GT ./. 1 100152746 . G . . NT END=100154330;NT GT ./. 1 100154055 rs3737899 T G 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4892,C/.,G/0.5108;Gene=PALMD/NM_017734.4/1;CC=c.515-276T>G;VC=Intron;DM=PALMD/Paralemmin;DM=PALMD/Paralemmin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:6:6:0:0:5,1:157,36:16.91,0.00:16.91,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:33.6,0.0:0,0:0,0:48,86:103,63:31,0:NM_017734.4(PALMD) c.515-276T>G,-:0.53,-:NOT_FOUND,- 1 100155429 . G . . NT END=100159574;NT GT ./. 1 100159619 . G . . NT END=100174453;NT GT ./. 1 100164000 rs10747504 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5421,G/0.4579;PC=0.655;Gene=MIR548AA1/NR_037516.1/0;VC=NonCoding;Gene=MIR548D1/NR_030382.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:2:0:0:1,3:34,98:0.00,10.25:0.00,3.70:0.00,6.55:0.00,0.85:0.00,0.95:0.00,0.85:60,60:12.0,32.7:0,0:0,0:60,101:91,50:0,42:-,chr1 g.100163999A>G (intergenic):-,0.48:-,NOT_FOUND 1 100174677 . C . . NT END=100174753;NT GT ./. 1 100174816 . C . . NT END=100176361;NT GT ./. 1 100176506 . C . . NT END=100177660;NT GT ./. 1 100177720 . C . . NT END=100177973;NT GT ./. 1 100178072 . C . . NT END=100181141;NT GT ./. 1 100181229 . C . . NT END=100182965;NT GT ./. 1 100181472 rs2039725 T C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.472,C/0.528;PC=0.001;Gene=FRRS1/NM_001013660.2/1;CC=c.1237-244A>G;VC=Intron;DM=FRRS1/Cytochrom_B561 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,T:13:0:0:0:4,9:130,255:11.43,0.00:0.00,0.00:11.43,0.00:0.79,0.00:0.00,0.00:0.79,0.00:60,60:68.8,18.9:0,0:0,0:123,113:5,37:13,32:NM_001013660.2(FRRS1) c.1237-244A>G,-:0.45,-:NOT_FOUND,- 1 100182884 rs6696586 C T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5925,T/0.4075;Gene=FRRS1/NM_001013660.2/1;CC=c.1236+82G>A;VC=Intron;DM=FRRS1/Cytochrom_B561 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:15:0:0:8,8:267,227:0.00,21.67:0.00,21.97:0.00,-0.30:0.00,1.00:0.00,1.00:0.00,0.67:60,60:3.1,49.6:0,0:0,0:39,22:111,128:29,13:-,NM_001013660.2(FRRS1) c.1236+82G>A:-,0.36:-,NOT_FOUND 1 100183082 . C . . NT END=100185089;NT GT ./. 1 100185204 . C . . NT END=100194048;NT GT ./. 1 100185282 rs6679013 G T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5964,T/0.4036;Gene=FRRS1/NM_001013660.2/1;CC=c.1007-79C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:G,T:14:6:0:0:8,6:225,178:0.00,16.52:0.00,7.50:0.00,9.02:0.00,0.96:0.00,0.95:0.00,0.99:60,60:5.8,46.8:0,0:0,0:133,126:17,25:4,11:-,NM_001013660.2(FRRS1) c.1007-79C>A:-,0.36:-,NOT_FOUND 1 100194197 . C . . NT END=100195205;NT GT ./. 1 100194305 rs7522921 C G 60 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4247,G/0.5753;PC=0.016;Gene=FRRS1/NM_001013660.2/1;CC=c.859-109G>C;VC=Intron;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:31:5:0:0:13,18:379,602:0.00,59.67:0.00,5.23:0.00,54.43:0.00,1.00:0.00,0.98:0.00,1.00:60,60:4.4,40.7:0,0:0,0:120,98:31,53:27,43:-,NM_001013660.2(FRRS1) c.859-109G>C:-,0.51:-,NOT_FOUND 1 100194962 rs7547543 G A 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4239,A/0.5761;Gene=FRRS1/NM_001013660.2/1;CC=c.858+244C>T;VC=Intron;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:8:8:0:0:4,4:130,139:12.50,0.00:12.50,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:99.0,8.8:0,0:0,0:18,75:133,76:9,39:NM_001013660.2(FRRS1) c.858+244C>T,-:0.51,-:NOT_FOUND,- 1 100195014 rs4548464 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4237,T/0.5763;Gene=FRRS1/NM_001013660.2/1;CC=c.858+192G>A;VC=Intron;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:8:8:0:0:3,5:100,169:0.00,16.99:0.00,16.99:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:7.3,92.8:0,0:0,0:107,65:44,86:38,10:-,NM_001013660.2(FRRS1) c.858+192G>A:-,0.51:-,NOT_FOUND 1 100195017 rs1361229 C G 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4237,G/0.5763;PC=0.082;Gene=FRRS1/NM_001013660.2/1;CC=c.858+189G>C;VC=Intron;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G:8:8:0:0:3,5:95,165:0.00,16.59:0.00,16.59:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:7.3,92.8:0,0:0,0:110,68:41,83:38,10:-,NM_001013660.2(FRRS1) c.858+189G>C:-,0.51:-,NOT_FOUND 1 100195305 . C . . NT END=100203641;NT GT ./. 1 100195477 rs12145556 A G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4257,G/0.5743;Gene=FRRS1/NM_001013660.2/1;CC=c.760-173T>C;VC=Intron;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:8:0:0:0:3,5:74,166:0.00,16.72:0.00,0.00:0.00,16.72:0.00,0.97:0.00,0.00:0.00,0.97:60,60:20.0,43.2:0,0:0,0:123,140:26,9:23,10:-,NM_001013660.2(FRRS1) c.760-173T>C:-,0.51:-,NOT_FOUND 1 100203571 rs7548709 A G 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.4417,G/0.5583;PC=0.003;Gene=FRRS1/NM_001013660.2/1;CC=c.759+71T>C;VC=Intron;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:25:0:0:16,11:523,387:0.00,36.02:0.00,32.90:0.00,3.12:0.00,1.00:0.00,1.00:0.00,0.92:60,60:10.1,117.9:0,0:0,0:71,22:73,129:43,14:-,NM_001013660.2(FRRS1) c.759+71T>C:-,0.49:-,NOT_FOUND 1 100203597 rs7513916 G A 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.4417,A/0.5583;PC=0.205;Gene=FRRS1/NM_001013660.2/1;CC=c.759+45C>T;VC=Intron;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:34:0:0:12,24:409,731:36.68,0.00:29.28,0.00:7.40,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:116.8,11.7:0,0:0,0:41,41:106,105:13,30:NM_001013660.2(FRRS1) c.759+45C>T,-:0.49,-:0.506997,- 1 100203648 rs7537296 C T 74 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.4417,T/0.5583;PC=0.384;Gene=FRRS1/NM_001013660.2/1;CC=c.753G>A;ProtCh=p.Q251=;VC=Silent;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:48:0:0:33,24:1141,798:0.00,74.40:0.00,57.07:0.00,17.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,92.1:0,0:0,0:51,50:94,75:20,33:-,NM_001013660.2(FRRS1) c.753G>A (p.(=)):-,0.49:-,0.507074 1 100203693 rs7514021 G A 69 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.4417,A/0.5583,T/.;PC=0.820;Gene=FRRS1/NM_001013660.2/1;CC=c.708C>T;ProtCh=p.S236=;VC=Silent;DM=FRRS1/DOMON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:67:50:0:0:24,42,1:767,1316,21:69.37,0.00,0.54:41.03,0.00,-0.16:28.33,0.00,0.71:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:83.5,5.1,52.0:0,0,0:0,0,0:74,81,35:75,65,116:25,25,0:NM_001013660.2(FRRS1) c.708C>T (p.(=)),-:0.49,-:0.507074,- 1 100203825 . C . . NT END=100206348;NT GT ./. 1 100203999 rs6658800 G A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4415,A/0.5585;Gene=FRRS1/NM_001013660.2/1;CC=c.577-175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,G:9:0:0:0:4,5:141,161:13.32,0.00:0.00,0.00:13.32,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:51.5,0.0:0,0:0,0:84,118:66,33:35,13:NM_001013660.2(FRRS1) c.577-175C>T,-:0.49,-:NOT_FOUND,- 1 100206497 . C . . NT END=100207734;NT GT ./. 1 100206566 rs559405756 G GA 7 rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.001;Gene=FRRS1/NM_001013660.2/1;CC=c.429-71dupT;VC=Intron;DM=FRRS1/Reeler;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:G,GA:26:9:3:0:23,3:736,97:0.00,7.10:0.00,-0.37:0.00,7.47:0.00,0.45:0.00,0.61:0.00,0.84:60,60:12.8,0.0:0,0:0,0:86,119:64,32:40,7:-,NM_001013660.2(FRRS1) c.429-71_429-70insT:-,NOT_FOUND:-,NOT_FOUND 1 100206665 rs7551679 G C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4415,C/0.5585;Gene=FRRS1/NM_001013660.2/1;CC=c.429-169C>G;VC=Intron;DM=FRRS1/Reeler GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:C,G:12:0:0:0:5,7:176,240:16.45,0.00:0.00,0.00:16.45,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:37.6,4.6:0,0:0,0:113,114:38,37:29,11:NM_001013660.2(FRRS1) c.429-169C>G,-:0.49,-:NOT_FOUND,- 1 100207830 . C . . NT END=100212849;NT GT ./. 1 100212662 rs68107509 AAC A 11 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AAC/0.4415,A/0.5585;DB;DBA=NA;PAF=AAC/0.4415,A/0.5585;NP=302;PC=0.008;Gene=FRRS1/NM_001013660.2/1;CC=c.333+186_333+187delGT;VC=Intron;DM=FRRS1/Reeler;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:AAC,A:8:8:0:4:4,4:131,112:0.00,10.70:0.00,10.70:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:3.0,33.0:0,0:0,0:53,65:97,85:33,28:-,NM_001013660.2(FRRS1) c.333+186_333+187delGT:-,0.49:-,NOT_FOUND 1 100212987 . C . . NT END=100214128;NT GT ./. 1 100213115 rs6577132 T C 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4413,C/0.5587;Gene=FRRS1/NM_001013660.2/1;CC=c.197-129A>G;VC=Intron;DM=FRRS1/Reeler GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:2:0:0:10,7:313,231:31.07,0.00:1.39,0.00:29.68,0.00:1.00,0.00:0.86,0.00:1.00,0.00:60,60:59.1,11.6:0,0:0,0:105,132:41,19:33,9:NM_001013660.2(FRRS1) c.197-129A>G,-:0.49,-:NOT_FOUND,- 1 100213151 rs6577133 T C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4413,C/0.5587;PC=0.010;Gene=FRRS1/NM_001013660.2/1;CC=c.197-165A>G;VC=Intron;DM=FRRS1/Reeler GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:11:0:0:0:9,2:296,45:31.67,0.00:0.00,0.00:31.67,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.3,48.5:0,0:0,0:130,65:20,85:16,30:NM_001013660.2(FRRS1) c.197-165A>G,-:0.49,-:NOT_FOUND,- 1 100214325 . C . . NT END=100316598;NT GT ./. 1 100214391 rs1416237 T A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.4413,A/0.5587;Gene=FRRS1/NM_001013660.2/1;CC=c.-1+62A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:31:9:0:0:13,18:437,605:40.75,0.00:9.01,0.00:31.74,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:58.2,4.3:0,0:0,0:80,104:71,46:26,26:NM_001013660.2(FRRS1) c.-1+62A>T,-:0.49,-:NOT_FOUND,- 1 100214487 rs1416236 C T 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4413,T/0.5587;Gene=FRRS1/NM_001013660.2/1;CC=c.-35G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:12:0:0:0:8,4:226,134:0.00,12.00:0.00,0.00:0.00,12.00:0.00,0.80:0.00,0.00:0.00,0.80:60,60:4.2,68.0:0,0:0,0:127,106:24,45:15,24:-,NM_001013660.2(FRRS1) c.-35G>A:-,0.49:-,NOT_FOUND 1 100316589 rs2307130 A G 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.5729,G/0.4271;PC=0.117;Gene=AGL/NM_000642.2/1;CC=c.-10A>G;VC=5UTR;Gene=AGL/NM_000028.2/0;CC=c.-10A>G;VC=5UTR;Gene=AGL/NM_000643.2/0;CC=c.-10A>G;VC=5UTR;Gene=AGL/NM_000644.2/0;CC=c.-8-2A>G;VC=SpliceSiteUTR;Gene=AGL/NM_000646.2/0;CC=c.-201A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:24:0:0:18,15:603,471:0.00,44.38:0.00,25.69:0.00,18.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,40.5:0,0:0,0:43,28:107,105:22,18:-,NM_000642.2(AGL) c.-10A>G:-,0.43:-,0.415731 1 100316681 . G . . NT END=100326765;NT GT ./. 1 100316765 rs663848 C T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2374,T/0.7626;Gene=AGL/NM_000642.2/1;CC=c.82+85C>T;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.82+85C>T;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.82+85C>T;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.82+85C>T;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.-110+85C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:11:2:0:0:7,4:239,131:0.00,11.88:0.00,-0.29:0.00,12.17:0.00,0.82:0.00,0.66:0.00,0.98:60,60:4.7,32.8:0,0:0,0:117,88:34,60:31,44:-,NM_000642.2(AGL) c.82+85C>T:-,0.74:-,NOT_FOUND 1 100327270 . G . . NT END=100327812;NT GT ./. 1 100327481 rs3766592 C A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7023,A/0.2977;Gene=AGL/NM_000642.2/1;CC=c.293+212C>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.293+212C>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.293+212C>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.293+212C>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.245+212C>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.242+212C>A;VC=Intron;DM=AGL/hGDE_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,C:7:0:0:0:5,2:166,47:17.20,0.00:0.00,0.00:17.20,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:35.6,20.5:0,0:0,0:98,53:51,97:42,17:NM_000642.2(AGL) c.293+212C>A,-:0.34,-:NOT_FOUND,- 1 100327980 . G . . NT END=100329941;NT GT ./. 1 100329889 rs535461 G C 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.2604,C/0.7396;PC=0.018;Gene=AGL/NM_000642.2/1;CC=c.461-53G>C;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.461-53G>C;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.461-53G>C;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.461-53G>C;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.413-53G>C;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.410-53G>C;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:26:23:0:0:10,16:320,509:29.24,0.00:26.62,0.00:2.62,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:60.8,2.1:0,0:0,0:22,29:128,121:14,16:NM_000642.2(AGL) c.461-53G>C,-:0.71,-:NOT_FOUND,- 1 100330146 . G . . NT END=100335955;NT GT ./. 1 100330237 rs538389 A G 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2374,G/0.7626;PC=0.003;Gene=AGL/NM_000642.2/1;CC=c.664+92A>G;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.664+92A>G;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.664+92A>G;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.664+92A>G;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.616+92A>G;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.613+92A>G;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:1:0:0:6,7:203,212:0.00,20.64:0.00,-0.17:0.00,20.81:0.00,0.99:0.00,0.69:0.00,0.99:60,60:0.0,67.7:0,0:0,0:134,116:16,34:12,28:-,NM_000642.2(AGL) c.664+92A>G:-,0.74:-,NOT_FOUND 1 100330295 rs539157 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2364,C/0.7636;Gene=AGL/NM_000642.2/1;CC=c.664+150T>C;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.664+150T>C;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.664+150T>C;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.664+150T>C;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.616+150T>C;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.613+150T>C;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:5:0:0:0:3,2:95,68:9.47,0.00:0.00,0.00:9.47,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:53.7,0.0:0,0:0,0:84,109:67,41:25,33:NM_000642.2(AGL) c.664+150T>C,-:0.74,-:NOT_FOUND,- 1 100335883 rs903126 A G 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.627,G/0.373;PC=0.001;Gene=AGL/NM_000642.2/1;CC=c.665-73A>G;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.665-73A>G;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.665-73A>G;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.665-73A>G;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.617-73A>G;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.614-73A>G;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:36:0:0:21,18:672,511:0.00,47.90:0.00,36.21:0.00,11.69:0.00,1.00:0.00,1.00:0.00,0.99:60,60:11.9,32.8:0,0:0,0:52,42:98,106:37,28:-,NM_000642.2(AGL) c.665-73A>G:-,0.39:-,NOT_FOUND 1 100336138 . G . . NT END=100336313;NT GT ./. 1 100336361 rs2230306 C T 51 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.2374,T/0.7626;PC=1.000;Gene=AGL/NM_000642.2/1;CC=c.894C>T;ProtCh=p.L298=;VC=Silent;Gene=AGL/NM_000028.2/0;CC=c.894C>T;ProtCh=p.L298=;VC=Silent;Gene=AGL/NM_000643.2/0;CC=c.894C>T;ProtCh=p.L298=;VC=Silent;Gene=AGL/NM_000644.2/0;CC=c.894C>T;ProtCh=p.L298=;VC=Silent;Gene=AGL/NM_000646.2/0;CC=c.846C>T;ProtCh=p.L282=;VC=Silent;Gene=AGL/NM_000645.2/0;CC=c.843C>T;ProtCh=p.L281=;VC=Silent;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:23:0:0:16,18:541,528:0.00,51.11:0.00,19.89:0.00,31.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,49.1:0,0:0,0:69,52:72,94:27,30:-,NM_000642.2(AGL) c.894C>T (p.(=)):-,0.74:-,0.767106 1 100336426 . G . . NT END=100340242;NT GT ./. 1 100340225 rs634880 G A 73 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.2566,A/0.7434;Gene=AGL/NM_000642.2/1;CC=c.959-18G>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.959-18G>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.959-18G>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.959-18G>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.911-18G>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.908-18G>A;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:37:0:0:22,23:757,719:72.66,0.00:44.05,0.00:28.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,7.0:0,0:0,0:56,60:88,81:23,16:NM_000642.2(AGL) c.959-18G>A,-:0.73,-:0.748308,- 1 100340367 . G . . NT END=100340709;NT GT ./. 1 100340813 . G . . NT END=100340913;NT GT ./. 1 100341012 . G . . NT END=100342013;NT GT ./. 1 100342154 . G . . NT END=100343196;NT GT ./. 1 100342227 rs3736295 C T 98 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4417,T/0.5583;Gene=AGL/NM_000642.2/1;CC=c.1423+74C>T;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.1423+74C>T;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.1423+74C>T;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.1423+74C>T;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.1375+74C>T;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.1372+74C>T;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:3:0:0:26:856:98.00:9.69:88.31:1.00:1.00:1.00:60:38.1:0:0:99:51:32:NM_000642.2(AGL) c.1423+74C>T,NM_000642.2(AGL) c.1423+74C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 100343073 rs2291637 T A 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4655,A/0.5345;Gene=AGL/NM_000642.2/1;CC=c.1424-124T>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.1424-124T>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.1424-124T>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.1424-124T>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.1376-124T>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.1373-124T>A;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:366:41.85:41.85:0.00:1.00:1.00:0.00:60:52.9:0:0:63:88:25:NM_000642.2(AGL) c.1424-124T>A,NM_000642.2(AGL) c.1424-124T>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 100343153 rs2291638 A G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7157,G/0.2843;Gene=AGL/NM_000642.2/1;CC=c.1424-44A>G;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.1424-44A>G;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.1424-44A>G;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.1424-44A>G;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.1376-44A>G;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.1373-44A>G;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:20:0:0:9,12:302,335:0.00,32.86:0.00,24.20:0.00,8.67:0.00,1.00:0.00,1.00:0.00,0.99:60,60:16.1,48.7:0,0:0,0:27,46:119,90:16,26:-,NM_000642.2(AGL) c.1424-44A>G:-,0.31:-,0.28288 1 100343385 . G . . NT END=100345478;NT GT ./. 1 100345409 rs2392077 C G 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4655,G/0.5345;PC=0.153;Gene=AGL/NM_000642.2/1;CC=c.1612-70C>G;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.1612-70C>G;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.1612-70C>G;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.1612-70C>G;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.1564-70C>G;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.1561-70C>G;VC=Intron;DM=AGL/hDGE_amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:17:0:0:19:644:73.46:57.50:15.96:1.00:1.00:1.00:60:40.9:0:0:30:118:14:NM_000642.2(AGL) c.1612-70C>G,NM_000642.2(AGL) c.1612-70C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 100345603 . G . . NT END=100346187;NT GT ./. 1 100345975 rs12035706 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.906,T/0.09405;Gene=AGL/NM_000642.2/1;CC=c.1736-213C>T;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.1736-213C>T;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.1736-213C>T;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.1736-213C>T;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.1688-213C>T;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.1685-213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:7:6:0:0:3,4:97,142:0.00,14.03:0.00,14.40:0.00,-0.37:0.00,0.90:0.00,0.99:0.00,0.71:60,60:0.0,35.5:0,0:0,0:68,69:83,81:11,16:-,NM_000642.2(AGL) c.1736-213C>T:-,0.11:-,NOT_FOUND 1 100346352 . G . . NT END=100346631;NT GT ./. 1 100346734 . G . . NT END=100346847;NT GT ./. 1 100346741 rs3736296 T C 122 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.4415,C/0.5585;PC=0.497;Gene=AGL/NM_000642.2/1;CC=c.2001+8T>C;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.2001+8T>C;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.2001+8T>C;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.2001+8T>C;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.1953+8T>C;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.1950+8T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:26:0:0:34:1059:122.05:76.51:45.54:1.00:1.00:1.00:60:42.7:0:0:65:85:30:NM_000642.2(AGL) c.2001+8T>C,NM_000642.2(AGL) c.2001+8T>C:0.56,0.56:0.504152,0.504152 1 100347004 . G . . NT END=100347096;NT GT ./. 1 100347248 . G . . NT END=100349675;NT GT ./. 1 100349801 . G . . NT END=100349894;NT GT ./. 1 100350008 . G . . NT END=100350124;NT GT ./. 1 100350260 . G . . NT END=100353533;NT GT ./. 1 100350383 rs2234707 G A 66 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4413,A/0.5587;Gene=AGL/NM_000642.2/1;CC=c.2681+124G>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.2681+124G>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.2681+124G>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.2681+124G>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.2633+124G>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.2630+124G>A;VC=Intron;DM=AGL/hGDE_central GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:1:0:0:18:575:66.04:3.68:62.36:1.00:1.00:1.00:60:41.6:0:0:69:80:35:NM_000642.2(AGL) c.2681+124G>A,NM_000642.2(AGL) c.2681+124G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 100353665 . G . . NT END=100356775;NT GT ./. 1 100353675 rs555929 G A 150 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.3189,A/0.6811;Gene=AGL/NM_000642.2/1;CC=c.2812+11G>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.2812+11G>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.2812+11G>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.2812+11G>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.2764+11G>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.2761+11G>A;VC=Intron;DM=AGL/hGDE_central GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A:40:21:0:0:40:1314:150.44:56.35:94.09:1.00:1.00:1.00:60:44.6:0:0:75:70:34:NM_000642.2(AGL) c.2812+11G>A,NM_000642.2(AGL) c.2812+11G>A:0.68,0.68:0.654852,0.654852 1 100356913 . G . . NT END=100357161;NT GT ./. 1 100357041 rs2035960 A G 138 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.4415,G/0.5585;Gene=AGL/NM_000642.2/1;CC=c.2950-121A>G;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.2950-121A>G;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.2950-121A>G;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.2950-121A>G;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.2902-121A>G;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.2899-121A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:24:0:0:37:1203:137.87:85.78:52.09:1.00:1.00:1.00:60:60.1:0:0:37:113:25:NM_000642.2(AGL) c.2950-121A>G,NM_000642.2(AGL) c.2950-121A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 100357141 rs2035961 T A 149 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.4657,A/0.5343;Gene=AGL/NM_000642.2/1;CC=c.2950-21T>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.2950-21T>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.2950-21T>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.2950-21T>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.2902-21T>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.2899-21T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:A:43:30:0:0:43:1284:148.68:85.84:62.84:1.00:1.00:1.00:60:51.7:0:0:105:45:27:NM_000642.2(AGL) c.2950-21T>A,NM_000642.2(AGL) c.2950-21T>A:0.53,0.53:0.475627,0.475627 1 100357296 . G . . NT END=100357987;NT GT ./. 1 100358164 . G . . NT END=100361841;NT GT ./. 1 100358200 rs594249 G A 89 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3185,A/0.6815;Gene=AGL/NM_000642.2/1;CC=c.3259+37G>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3259+37G>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3259+37G>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3259+37G>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3211+37G>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3208+37G>A;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:10:0:0:26:766:88.81:25.57:63.24:1.00:1.00:1.00:60:36.9:0:0:106:43:19:NM_000642.2(AGL) c.3259+37G>A,NM_000642.2(AGL) c.3259+37G>A:0.68,0.68:0.654952,0.654952 1 100361925 rs2230307 G A 50 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.9115,A/0.08846;PC=1.000;Gene=AGL/NM_000642.2/1;CC=c.3343G>A;ProtCh=p.G1115R;VC=Missense;Gene=AGL/NM_000028.2/0;CC=c.3343G>A;ProtCh=p.G1115R;VC=Missense;Gene=AGL/NM_000643.2/0;CC=c.3343G>A;ProtCh=p.G1115R;VC=Missense;Gene=AGL/NM_000644.2/0;CC=c.3343G>A;ProtCh=p.G1115R;VC=Missense;Gene=AGL/NM_000646.2/0;CC=c.3295G>A;ProtCh=p.G1099R;VC=Missense;Gene=AGL/NM_000645.2/0;CC=c.3292G>A;ProtCh=p.G1098R;VC=Missense;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:16:0:0:16,19:527,587:49.84,0.00:9.34,0.00:40.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,7.4:0,0:0,0:84,99:66,48:33,18:NM_000642.2(AGL) c.3343G>A (p.Gly1115Arg),-:0.1,-:0.04175,- 1 100361945 . G . . NT END=100366191;NT GT ./. 1 100366418 . G . . NT END=100368238;NT GT ./. 1 100366446 rs535461298 GTT G 24 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=69;PC=0.790;Gene=AGL/NM_000642.2/1;CC=c.3588+43_3588+44delTT;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3588+43_3588+44delTT;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3588+43_3588+44delTT;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3588+43_3588+44delTT;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3540+43_3540+44delTT;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3537+43_3537+44delTT;VC=Intron;DM=AGL/GDE_C;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTT,I,G:28:5:1:10:18,1,9:564,31,299:0.00,1.84,23.51:0.00,-0.05,-0.56:0.00,1.89,24.08:0.00,0.00,0.99:0.00,0.00,0.83:0.00,0.00,1.00:60,60,70:11.1,30.0,14.6:0,0,1:0,0,0:140,121,65:8,7,86:9,0,33:-,NM_000642.2(AGL) c.3588+30_3588+31delTT:-,NOT_FOUND:-,NOT_FOUND 1 100368351 . G . . NT END=100376267;NT GT ./. 1 100368382 rs834575 T C 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9461,C/0.05391;PC=0.001;Gene=AGL/NM_000642.2/1;CC=c.3700+32T>C;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3700+32T>C;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3700+32T>C;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3700+32T>C;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3652+32T>C;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3649+32T>C;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:7:0:0:13,11:445,364:43.51,0.00:4.04,0.00:39.47,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:38.8,3.4:0,0:0,0:127,129:24,21:22,10:NM_000642.2(AGL) c.3700+32T>C,-:0.06,-:0.056512,- 1 100368640 rs17121609 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6022,G/0.3978;Gene=AGL/NM_000642.2/1;CC=c.3700+290A>G;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3700+290A>G;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3700+290A>G;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3700+290A>G;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3652+290A>G;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3649+290A>G;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:6:0:0:0:1,5:34,161:0.00,17.31:0.00,0.00:0.00,17.31:0.00,0.99:0.00,0.00:0.00,0.99:60,60:11.0,50.0:0,0:0,0:58,110:92,37:0,25:-,NM_000642.2(AGL) c.3700+290A>G:-,0.45:-,NOT_FOUND 1 100376404 . G . . NT END=100377960;NT GT ./. 1 100376448 rs2274570 G A 134 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.5387,A/0.4613;PC=0.006;Gene=AGL/NM_000642.2/1;CC=c.3836+45G>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3836+45G>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3836+45G>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3836+45G>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3788+45G>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3785+45G>A;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:9:0:0:38:1157:133.67:20.01:113.66:1.00:1.00:1.00:60:69.2:0:0:103:41:25:NM_000642.2(AGL) c.3836+45G>A,NM_000642.2(AGL) c.3836+45G>A:0.52,0.52:0.456859,0.456859 1 100376456 rs1541041 T A 135 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.5401,A/0.4599;PC=0.001;Gene=AGL/NM_000642.2/1;CC=c.3836+53T>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3836+53T>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3836+53T>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3836+53T>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3788+53T>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3785+53T>A;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:5:0:0:38:1166:134.55:13.82:120.73:1.00:1.00:1.00:60:72.2:0:0:103:46:29:NM_000642.2(AGL) c.3836+53T>A,NM_000642.2(AGL) c.3836+53T>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 100376522 rs544676220 G A 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3;Gene=AGL/NM_000642.2/1;CC=c.3836+119G>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3836+119G>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3836+119G>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3836+119G>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3788+119G>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3785+119G>A;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:A,G:15:0:0:0:5,10:173,318:15.55,0.00:0.00,0.00:15.55,0.00:0.89,0.00:0.00,0.00:0.89,0.00:60,60:117.0,46.2:0,0:0,0:113,96:37,54:31,27:NM_000642.2(AGL) c.3836+119G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 100376523 rs370275144 C G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=4;Gene=AGL/NM_000642.2/1;CC=c.3836+120C>G;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.3836+120C>G;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.3836+120C>G;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.3836+120C>G;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.3788+120C>G;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.3785+120C>G;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,G:15:0:0:0:10,5:301,161:0.00,14.34:0.00,0.00:0.00,14.34:0.00,0.89:0.00,0.00:0.00,0.89:60,60:46.2,117.0:0,0:0,0:97,114:53,36:27,31:-,NM_000642.2(AGL) c.3836+120C>G:-,NOT_FOUND:-,NOT_FOUND 1 100378074 . G . . NT END=100379082;NT GT ./. 1 100379295 . G . . NT END=100380944;NT GT ./. 1 100381043 . G . . NT END=100381965;NT GT ./. 1 100381109 rs558245707 A AT 24 sb,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6038,AT/0.3962;DB;DBA=NA;PAF=A/0.6038,AT/0.3962;DB;DBA=NA;PAF=A/0.6038,AT/0.3962;NP=12;NP=653;Gene=AGL/NM_000642.2/1;CC=c.4259+80dupT;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.4259+80dupT;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.4259+80dupT;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.4259+80dupT;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.4211+80dupT;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.4208+80dupT;VC=Intron;DM=AGL/GDE_C;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,T,AT:12:2:8:0:3,1,8:100,13,228:0.00,0.64,23.76:0.00,-0.02,1.61:0.00,0.66,22.15:0.00,0.00,1.00:0.00,0.00,0.91:0.00,0.00,1.00:60,60,60:0.0,110.0,19.9:0,0,0:0,0,0:129,84,92:14,41,58:7,0,36:-,NM_000642.2(AGL) c.4259+67_4259+68insT:-,NOT_FOUND:-,NOT_FOUND 1 100381815 rs6665958 G T 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9461,T/0.05391;PC=0.002;Gene=AGL/NM_000642.2/1;CC=c.4260-151G>T;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.4260-151G>T;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.4260-151G>T;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.4260-151G>T;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.4212-151G>T;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.4209-151G>T;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:G,T:10:10:0:0:6,4:186,126:0.00,11.59:0.00,11.59:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:45.0,31.5:0,0:0,0:62,44:88,107:22,14:-,NM_000642.2(AGL) c.4260-151G>T:-,0.06:-,NOT_FOUND 1 100381869 rs2296885 G A 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6148,A/0.3852;Gene=AGL/NM_000642.2/1;CC=c.4260-97G>A;VC=Intron;Gene=AGL/NM_000028.2/0;CC=c.4260-97G>A;VC=Intron;Gene=AGL/NM_000643.2/0;CC=c.4260-97G>A;VC=Intron;Gene=AGL/NM_000644.2/0;CC=c.4260-97G>A;VC=Intron;Gene=AGL/NM_000646.2/0;CC=c.4212-97G>A;VC=Intron;Gene=AGL/NM_000645.2/0;CC=c.4209-97G>A;VC=Intron;DM=AGL/GDE_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:10,10:289,346:27.61,0.00:27.76,0.00:-0.15,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:41.9,24.6:0,0:0,0:64,27:86,123:48,18:NM_000642.2(AGL) c.4260-97G>A,-:0.43,-:NOT_FOUND,- 1 100382054 . G . . NT END=100382153;NT GT ./. 1 100382288 . G . . NT END=100387089;NT GT ./. 1 100387208 . T . . NT END=100436092;NT GT ./. 1 100436201 . G . . NT END=100459092;NT GT ./. 1 100459302 . G . . NT END=100464816;NT GT ./. 1 100464972 . G . . NT END=100472589;NT GT ./. 1 100465017 . A T 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;PC=0.020;Gene=SLC35A3/NM_001271684.1/0;CC=c.342+46A>T;VC=Intron;Gene=SLC35A3/NM_012243.2/1;CC=c.342+46A>T;VC=Intron;Gene=SLC35A3/NM_001271685.1/0;CC=c.468+46A>T;VC=Intron;DM=SLC35A3/Nuc_sug_transp;DM=SLC35A3/Nuc_sug_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:22:5:0:0:9,13:257,388:0.00,38.54:0.00,10.45:0.00,28.09:0.00,1.00:0.00,0.99:0.00,1.00:60,60:10.2,52.8:0,0:0,0:93,78:58,73:48,30:-,NM_012243.1(SLC35A3) c.342+46A>T:-,NOT_FOUND:-,NOT_FOUND 1 100472713 . G . . NT END=100476920;NT GT ./. 1 100477090 . G . . NT END=100480857;NT GT ./. 1 100480977 . G . . NT END=100483237;NT GT ./. 1 100483372 . G . . NT END=100487941;NT GT ./. 1 100488033 . T . . NT END=100503788;NT GT ./. 1 100503873 . G . . NT END=100508628;NT GT ./. 1 100508786 . G . . NT END=100515464;NT GT ./. 1 100515561 . G . . NT END=100524221;NT GT ./. 1 100524285 . G . . NT END=100525433;NT GT ./. 1 100525562 . G . . NT END=100527390;NT GT ./. 1 100527506 . G . . NT END=100533532;NT GT ./. 1 100533752 . G . . NT END=100534028;NT GT ./. 1 100533960 rs6687189 G A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6607,A/0.3393;Gene=MFSD14A/NM_033055.2/1;CC=c.706-69G>A;VC=Intron;DM=MFSD14A/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:27:18:0:0:7,1,19:230,13,525:19.77,0.18,0.00:14.59,0.31,0.00:5.18,-0.14,0.00:0.96,0.00,0.00:0.99,0.00,0.00:0.95,0.00,0.00:60,60,60:34.6,13.0,15.2:0,0,0:0,0,0:74,120,25:76,31,126:9,0,22:NM_033055.2(HIAT1) c.706-69G>A,-:0.39,-:NOT_FOUND,- 1 100534143 . G . . NT END=100535169;NT GT ./. 1 100535242 . G . . NT END=100542720;NT GT ./. 1 100542702 . CT C 8 rn VT=DEL;SST=Single;DP=15;NP=45;Gene=MFSD14A/NM_033055.2/1;CC=c.892-4delT;VC=Intron;DM=MFSD14A/MFS_1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:CT,I,C:15:12:1:3:11,1,3:358,32,100:0.00,2.17,8.27:0.00,-0.26,5.38:0.00,2.43,2.89:0.00,0.00,0.55:0.00,0.00,0.89:0.00,0.00,0.71:60,60,60:25.9,0.0,0.0:0,0,0:0,0,0:49,21,46:102,129,104:12,0,12:-,NM_033055.2(HIAT1) c.892-18delT:-,NOT_FOUND:-,NOT_FOUND 1 100542834 . G . . NT END=100544006;NT GT ./. 1 100544105 . G . . NT END=100546051;NT GT ./. 1 100546216 . G . . NT END=100547558;NT GT ./. 1 100547766 . C . . NT END=100550883;NT GT ./. 1 100550991 . C . . NT END=100551091;NT GT ./. 1 100551187 . C . . NT END=100553694;NT GT ./. 1 100553793 . C . . NT END=100568510;NT GT ./. 1 100568640 . C . . NT END=100571322;NT GT ./. 1 100568759 rs544225 C G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.3664,G/0.6336;Gene=SASS6/NM_001304829.1/0;CC=c.1045-120G>C;VC=Intron;Gene=SASS6/NM_194292.2/1;CC=c.1546-120G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,G:13:1:0:0:7,6:185,184:0.00,17.42:0.00,-0.13:0.00,17.55:0.00,0.97:0.00,0.64:0.00,0.97:60,60:12.1,32.7:0,0:0,0:133,110:18,40:10,17:-,NM_194292.1(SASS6) c.1546-120G>C:-,0.64:-,NOT_FOUND 1 100571460 . C . . NT END=100572467;NT GT ./. 1 100572550 . C . . NT END=100572929;NT GT ./. 1 100572876 rs143305704 T A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.9673,A/0.03275;Gene=SASS6/NM_001304829.1/0;CC=c.825+54A>T;VC=Intron;Gene=SASS6/NM_194292.2/1;CC=c.1326+54A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:18:0:0:8,12:254,393:23.37,0.00:20.72,0.00:2.65,0.00:0.99,0.00:1.00,0.00:0.96,0.00:60,60:65.0,5.6:0,0:0,0:77,46:74,105:44,28:NM_194292.1(SASS6) c.1326+54A>T,-:0.02,-:NOT_FOUND,- 1 100572883 rs146122041 C G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9671,G/0.03295;Gene=SASS6/NM_001304829.1/0;CC=c.825+47G>C;VC=Intron;Gene=SASS6/NM_194292.2/1;CC=c.1326+47G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:18:0:0:12,8:382,236:0.00,21.55:0.00,18.91:0.00,2.64:0.00,0.99:0.00,1.00:0.00,0.97:60,60:6.5,65.2:0,0:0,0:53,55:98,96:25,34:-,NM_194292.1(SASS6) c.1326+47G>C:-,0.02:-,0.015852 1 100573110 . C . . NT END=100573183;NT GT ./. 1 100573274 . C . . NT END=100573365;NT GT ./. 1 100573561 . C . . NT END=100575847;NT GT ./. 1 100575933 rs13375867 G A 41 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.6498,A/0.3502;PC=0.010;Gene=SASS6/NM_001304829.1/0;CC=c.275C>T;ProtCh=p.A92V;VC=Missense;Gene=SASS6/NM_194292.2/1;CC=c.776C>T;ProtCh=p.A259V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:29:0:0:14,25:450,798:40.66,0.00:20.60,0.00:20.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.1,11.0:0,0:0,0:78,51:53,96:30,27:NM_194292.1(SASS6) c.776C>T (p.Ala259Val),-:0.4,-:0.306474,- 1 100576040 . C . . NT END=100584573;NT GT ./. 1 100584694 . C . . NT END=100585949;NT GT ./. 1 100586016 . C . . NT END=100586933;NT GT ./. 1 100587106 . C . . NT END=100587935;NT GT ./. 1 100587250 rs507233 A C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2432,C/0.7568;PC=0.657;Gene=SASS6/NM_001304829.1/0;CC=c.-190-145T>G;VC=Intron;Gene=SASS6/NM_194292.2/1;CC=c.312-145T>G;VC=Intron;DM=SASS6/SAS-6_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:261:29.91:0.00:29.91:1.00:0.00:1.00:60:44.6:0:0:91:58:18:NM_194292.1(SASS6) c.312-145T>G,NM_194292.1(SASS6) c.312-145T>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 100588041 . C . . NT END=100588765;NT GT ./. 1 100588105 . CT C 7 idl,rn VT=DEL;SST=Single;DP=14;PC=0.001;Gene=SASS6/NM_001304829.1/0;CC=c.-295-66delA;VC=Intron;Gene=SASS6/NM_194292.2/1;CC=c.207-66delA;VC=Intron;DM=SASS6/SAS-6_N;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:CT,I,C:10:2:3:6:5,2,3:150,79,182:0.00,4.04,7.40:0.00,0.00,3.01:0.00,4.04,4.39:0.00,0.00,0.56:0.00,0.00,0.49:0.00,0.00,0.56:60,60,60:16.0,15.5,63.0:0,3,3:0,0,0:144,58,107:6,88,43:1,19,12:-,NM_194292.1(SASS6) c.207-66delA:-,NOT_FOUND:-,NOT_FOUND 1 100588846 . C . . NT END=100591437;NT GT ./. 1 100591499 . C . . NT END=100598305;NT GT ./. 1 100598283 rs142029130 G A 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.9958,A/0.004193;NP=21;PC=0.009;Gene=SASS6/NM_001304829.1/0;CC=c.-357+23C>T;VC=Intron;Gene=SASS6/NM_194292.2/1;CC=c.65+23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:33:0:0:19,22:613,693:58.05,0.00:33.83,0.00:24.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,9.8:0,0:0,0:48,32:94,118:31,21:NM_194292.1(SASS6) c.65+23C>T,-:0.0041,-:0.002768,- 1 100598371 . G . . NT END=100598724;NT GT ./. 1 100598866 rs472498 G A 480 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=G/0.2436,A/0.7564;PC=0.758;Gene=TRMT13/NM_019083.2/1;CC=c.142G>A;ProtCh=p.A48T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:127:74:0:0:127:4192:479.69:181.32:298.37:1.00:1.00:1.00:60:70.1:0:0:95:50:27:NM_019083.2(TRMT13) c.142G>A (p.Ala48Thr),NM_019083.2(TRMT13) c.142G>A (p.Ala48Thr):0.63,0.63:0.713748,0.713748 1 100598867 rs687513 C T 477 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.2436,T/0.7564;PC=0.758;Gene=TRMT13/NM_019083.2/1;CC=c.143C>T;ProtCh=p.A48V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:126:74:0:0:126:4175:477.47:179.02:298.45:1.00:1.00:1.00:60:70.4:0:0:88:56:27:NM_019083.2(TRMT13) c.143C>T (p.Ala48Val),NM_019083.2(TRMT13) c.143C>T (p.Ala48Val):0.61,0.61:0.713286,0.713286 1 100598873 . T . . NT END=100602437;NT GT ./. 1 100602486 . T . . NT END=100602574;NT GT ./. 1 100602643 . T . . NT END=100605204;NT GT ./. 1 100602891 rs2784175 G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.0635,A/0.9365;Gene=TRMT13/NM_019083.2/1;CC=c.261+250G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:115:13.40:0.00:13.40:1.00:0.00:1.00:60:54.0:0:0:105:45:23:NM_019083.2(TRMT13) c.261+250G>A,NM_019083.2(TRMT13) c.261+250G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 100605269 . T . . NT END=100605737;NT GT ./. 1 100605809 . T . . NT END=100605963;NT GT ./. 1 100606072 . T . . NT END=100606407;NT GT ./. 1 100606577 . T . . NT END=100608692;NT GT ./. 1 100608767 . T . . NT END=100609624;NT GT ./. 1 100609701 . T . . NT END=100613449;NT GT ./. 1 100613884 . T . . NT END=100614180;NT GT ./. 1 100614377 . T . . NT END=100614597;NT GT ./. 1 100614654 . C . . NT END=100614704;NT GT ./. 1 100614992 . C . . NT END=100617940;NT GT ./. 1 100617887 rs2784177 C T 154 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.09724,T/0.9028;Gene=LRRC39/NM_001256385.1/1;CC=c.952+54G>A;VC=Intron;Gene=LRRC39/NM_001256386.1/0;CC=c.952+54G>A;VC=Intron;Gene=LRRC39/NM_001256387.1/0;CC=c.952+54G>A;VC=Intron;Gene=LRRC39/NM_144620.3/0;CC=c.952+54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:T:41:38:0:0:41:1340:153.55:120.01:33.54:1.00:1.00:1.00:60:40.1:0:0:47:103:28:NM_001256385.1(LRRC39) c.952+54G>A,NM_001256385.1(LRRC39) c.952+54G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 1 100618081 . C . . NT END=100620606;NT GT ./. 1 100620760 . C . . NT END=100621727;NT GT ./. 1 100621874 . C . . NT END=100623786;NT GT ./. 1 100623924 . C . . NT END=100624814;NT GT ./. 1 100624000 . C CT 10 rn VT=INS;SST=Single;DP=25;Gene=LRRC39/NM_001256385.1/1;CC=c.377-78_377-77insA;VC=Intron;Gene=LRRC39/NM_001256386.1/0;CC=c.377-78_377-77insA;VC=Intron;Gene=LRRC39/NM_001256387.1/0;CC=c.377-78_377-77insA;VC=Intron;Gene=LRRC39/NM_144620.3/0;CC=c.377-78_377-77insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,CT,D:25:8:4:2:19,4,2:622,126,60:0.00,9.89,4.08:0.00,-0.42,-0.20:0.00,10.31,4.28:0.00,0.67,0.00:0.00,0.71,0.00:0.00,0.94,0.00:60,60,60:18.6,0.0,14.0:0,0,0:0,0,0:100,60,73:49,90,74:28,5,14:-,NM_001256385.1(LRRC39) c.377-78_377-77insA:-,NOT_FOUND:-,NOT_FOUND 1 100624972 . C . . NT END=100626021;NT GT ./. 1 100625160 rs199617128 TCC T 8 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TCC/0.0007987,T/0.9992;NP=2;PC=0.011;Gene=LRRC39/NM_001256385.1/1;CC=c.220-191_220-190delGG;VC=Intron;Gene=LRRC39/NM_001256386.1/0;CC=c.220-191_220-190delGG;VC=Intron;Gene=LRRC39/NM_001256387.1/0;CC=c.220-191_220-190delGG;VC=Intron;Gene=LRRC39/NM_144620.3/0;CC=c.220-191_220-190delGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:TCC,T:5:0:0:3:2,3:43,79:0.00,7.89:0.00,0.00:0.00,7.89:0.00,0.78:0.00,0.00:0.00,0.78:60,70:122.5,26.3:1,0:0,0:123,69:26,80:5,19:-,NM_001256385.1(LRRC39) c.220-191_220-190delGG:-,0.91:-,NOT_FOUND 1 100626128 . C . . NT END=100633959;NT GT ./. 1 100626182 rs35699743 C CT 7 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=2;PC=0.002;Gene=LRRC39/NM_001256385.1/1;CC=c.114-56_114-55insA;VC=Intron;Gene=LRRC39/NM_001256386.1/0;CC=c.114-56_114-55insA;VC=Intron;Gene=LRRC39/NM_001256387.1/0;CC=c.114-56_114-55insA;VC=Intron;Gene=LRRC39/NM_144620.3/0;CC=c.114-56_114-55insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,CT,D:24:10:4:2:19,3,2:633,122,56:0.00,7.12,3.68:0.00,0.97,-0.24:0.00,6.15,3.92:0.00,0.46,0.00:0.00,0.66,0.00:0.00,0.86,0.00:60,60,60:4.0,7.0,110.0:0,1,0:0,0,0:103,84,118:31,66,25:30,32,14:-,NM_001256385.1(LRRC39) c.114-56_114-55insA:-,NOT_FOUND:-,NOT_FOUND 1 100634073 . G . . NT END=100661810;NT GT ./. 1 100661979 . C . . NT END=100671785;NT GT ./. 1 100661987 . GAAAAA G 21 idl,nt VT=DEL;SST=Single;DP=45;PC=0.003;Gene=DBT/NM_001918.3/1;CC=c.1282-14_1282-10delTTTTT;VC=Intron;DM=DBT/2-oxoacid_dh;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,GAAAAA,G:40:41:0:23:1,31,8:12,962,400:-0.01,0.00,20.59:-0.26,0.00,16.84:0.25,0.00,3.75:0.00,0.00,0.97:0.00,0.00,1.00:0.00,0.00,0.78:60,60,60:177.0,32.1,47.1:1,0,5:0,0,0:105,109,60:44,29,75:0,15,19:-,NM_001918.3(DBT) c.1282-14_1282-10delTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 100662090 rs5776501 CTG C 126 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=CTG/0.007987,C/0.992;DB;DBA=NA;PAF=CTG/0.007987,C/0.992;NP=2062;Gene=DBT/NM_001918.3/1;CC=c.1282-114_1282-113delCA;VC=Intron;DM=DBT/2-oxoacid_dh;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:CTG,C:40:5:0:37:3,37:70,1129:0.00,125.97:0.00,5.13:0.00,120.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.3,5.4:0,0:0,0:147,94:1,57:3,23:NM_001918.3(DBT) c.1282-114_1282-113delCA,NM_001918.3(DBT) c.1282-114_1282-113delCA:0.99,0.99:NOT_FOUND,NOT_FOUND 1 100671858 . C . . NT END=100672000;NT GT ./. 1 100671866 rs566272048 T A 73 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=in-clinvar;PAF=T/0.7304,A/0.2684;DB;DBA=NA;PAF=T/0.7304,TA/.,TAA/0.001198,TAAA/.;PC=0.105;Gene=DBT/NM_001918.3/1;CC=c.1210-9A>T;VC=Intron;DM=DBT/2-oxoacid_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T,I,D:46:28:4:6:23,15,4,4:734,446,129,158:72.88,0.00,9.95,9.46:36.59,0.00,3.71,2.51:36.29,0.00,6.24,6.95:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:44.9,22.1,5.8,34.5:3,2,0,1:0,0,0,0:95,84,80,127:48,67,45,23:26,28,14,3:NM_001918.3(DBT) c.1210-9A>T,-:0.24,-:0.155706,- 1 100672060 rs12021720 T C 158 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=in-clinvar;PAF=T/0.1082,C/0.8918;PC=0.551;Gene=DBT/NM_001918.3/1;CC=c.1150A>G;ProtCh=p.S384G;VC=Missense;DM=DBT/2-oxoacid_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A,C:44:29:0:0:1,43:12,1377:0.30,157.76:0.00,81.55:0.30,76.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,35.5:0,0:0,0:8,58:142,77:0,28:NM_001918.3(DBT) c.=,NM_001918.3(DBT) c.=:0.9,0.9:0.859219,0.859219 1 100672193 . C . . NT END=100676249;NT GT ./. 1 100676503 . G . . NT END=100680372;NT GT ./. 1 100678717 rs11166416 A G 101 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2288,G/0.7712;PC=0.002;Gene=DBT/NM_001918.3/1;CC=c.939+1656T>C;VC=Intron;DM=DBT/2-oxoacid_dh;DM=DBT/2-oxoacid_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:27:0:0:27:886:101.45:101.45:0.00:1.00:1.00:0.00:60:42.3:0:0:61:90:33:NM_001918.3(DBT) c.939+1656T>C,NM_001918.3(DBT) c.939+1656T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 100679522 rs6692941 A G 15 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.5064,AG/0.4936;DB;DBA=NA;PAF=NA;NP=180;NP=4;NP=62;PC=0.603;Gene=DBT/NM_001918.3/1;CC=c.939+851T>C;VC=Intron;DM=DBT/2-oxoacid_dh;DM=DBT/2-oxoacid_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,G,I:26:4:5:0:16,6,4:494,180,161:0.00,15.20,10.78:0.00,4.47,-0.10:0.00,10.73,10.88:0.00,0.91,0.00:0.00,0.64,0.00:0.00,0.99,0.00:60,60,60:95.8,93.2,79.5:0,0,1:0,0,0:112,69,91:34,60,60:22,28,14:-,NM_001918.3(DBT) c.939+851T>C:-,NOT_FOUND:-,NOT_FOUND 1 100679564 rs6577155 G A 60 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.229,A/0.771;Gene=DBT/NM_001918.3/1;CC=c.939+809C>T;VC=Intron;DM=DBT/2-oxoacid_dh;DM=DBT/2-oxoacid_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:0:0:0:17:517:59.76:0.00:59.76:1.00:0.00:1.00:60:84.4:0:0:100:34:26:NM_001918.3(DBT) c.939+809C>T,NM_001918.3(DBT) c.939+809C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 100680540 . C . . NT END=100681538;NT GT ./. 1 100680593 rs397805697 C CT 27 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.4988,CT/0.5012;DB;DBA=NA;PAF=C/0.4988,CT/0.5012;NP=194;Gene=DBT/NM_001918.3/1;CC=c.773-55dupA;VC=Intron;DM=DBT/2-oxoacid_dh;DM=DBT/2-oxoacid_dh;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:26:10:14:2:14,10,2:392,414,65:0.00,27.34,4.69:0.00,5.78,1.10:0.00,21.57,3.59:0.00,1.00,0.00:0.00,0.97,0.00:0.00,1.00,0.00:60,70,60:43.4,35.7,5.0:0,4,0:0,0,0:117,82,122:22,59,27:19,19,0:-,NM_001918.3(DBT) c.773-55_773-54insA:-,NOT_FOUND:-,NOT_FOUND 1 100681756 . C . . NT END=100684181;NT GT ./. 1 100684304 . C . . NT END=100696288;NT GT ./. 1 100684488 rs55792733 TGG T 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=122;PC=0.001;Gene=DBT/NM_001918.3/1;CC=c.434-187_434-186delCC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:4:4:108:12.70:0.00:12.70:1.00:0.00:1.00:60:62.0:0:0:104:46:12:NM_001918.3(DBT) c.434-187_434-186delCC,NM_001918.3(DBT) c.434-187_434-186delCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 100696185 rs397731374 G GA 36 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=741;Gene=DBT/NM_001918.3/1;CC=c.433+103_433+104insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:G,GA:14:16:13:0:3,11:101,400:0.00,35.64:0.00,35.64:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:24.3,24.8:0,2:0,0:21,37:130,112:20,21:-,NM_001918.3(DBT) c.433+103_433+104insT:-,NOT_FOUND:-,NOT_FOUND 1 100696471 . C . . NT END=100700991;NT GT ./. 1 100700887 rs151132097 T A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9866,A/0.01338;PC=0.505;Gene=DBT/NM_001918.3/1;CC=c.251+105A>T;VC=Intron;DM=DBT/Biotin_lipoyl;DM=DBT/Biotin_lipoyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,T:6:6:0:0:3,3:99,97:9.53,0.00:9.53,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:37.0,0.0:0,0:0,0:30,71:120,80:2,31:NM_001918.3(DBT) c.251+105A>T,-:0.01,-:NOT_FOUND,- 1 100701069 . T . . NT END=100706316;NT GT ./. 1 100706441 . C . . NT END=100714592;NT GT ./. 1 100714642 . C . . NT END=100715325;NT GT ./. 1 100715377 . C . . NT END=100731931;NT GT ./. 1 100715454 rs3806235 G A 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.275,A/0.725;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:42:16:0:0:23,18,1:572,605,11:55.76,0.00,0.07:14.30,0.00,-0.04:41.45,0.00,0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.3,7.2,78.0:0,0,0:0,0,0:102,81,19:30,70,132:33,25,0:NM_001918.3(DBT) c.-33-u45C>T,-:0.76,-:NOT_FOUND,- 1 100731819 rs57195277 C CA 41 nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=2779;PC=0.003;Gene=RTCA/NM_001130841.1/1;CC=c.-113_-112insA;VC=5UTR;Gene=RTCA/NM_003729.3/0;CC=c.-113_-112insA;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:36:34:14:0:22,14:657,451:0.00,41.35:0.00,31.36:0.00,9.99:0.00,1.00:0.00,1.00:0.00,0.93:60,60:18.7,32.4:0,0:0,0:37,54:113,97:23,12:-,NM_001130841.1(RTCA) c.-113_-112insA:-,0.79:-,NOT_FOUND 1 100731820 rs57327535 G A 44 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2298,A/0.7702;NP=18;Gene=RTCA/NM_001130841.1/1;CC=c.-112G>A;VC=5UTR;Gene=RTCA/NM_003729.3/0;CC=c.-112G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:36:34:0:0:15,1,20:473,13,551:44.14,0.17,0.00:34.30,0.18,0.00:9.84,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:60,60,60:32.2,54.0,15.8:14,0,0:0,0,0:57,6,35:94,145,116:12,0,18:NM_001130841.1(RTCA) c.-112G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 100731977 . G . . NT END=100732079;NT GT ./. 1 100732181 . G . . NT END=100733629;NT GT ./. 1 100733552 rs4298755 T C 91 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.2298,C/0.7702;PC=0.438;Gene=RTCA/NM_001130841.1/1;CC=c.186-156T>C;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.147-156T>C;VC=Intron;DM=RTCA/RTC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:32:0:0:26,8:863,265:90.62,0.00:78.08,0.00:12.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,0.0:0,0:0,0:46,23:104,127:27,19:NM_001130841.1(RTCA) c.186-156T>C,-:0.79,-:NOT_FOUND,- 1 100733852 . G . . NT END=100736112;NT GT ./. 1 100735903 rs4579779 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2748,G/0.7252;Gene=RTCA/NM_001130841.1/1;CC=c.330-210A>G;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.291-210A>G;VC=Intron;DM=RTCA/RTC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:9:9:0:0:4,5:89,168:0.00,16.54:0.00,16.54:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:51.5,46.0:0,0:0,0:37,16:112,134:29,12:-,NM_001130841.1(RTCA) c.330-210A>G:-,0.76:-,NOT_FOUND 1 100736237 . G . . NT END=100738949;NT GT ./. 1 100736517 rs12757431 T C 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2294,C/0.7706;PC=0.004;Gene=RTCA/NM_001130841.1/1;CC=c.453+281T>C;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.414+281T>C;VC=Intron;DM=RTCA/RTC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:1:0:0:2,3:70,96:6.49,0.00:-0.11,0.00:6.60,0.00:0.46,0.00:0.60,0.00:0.46,0.00:60,60:74.0,24.7:0,0:0,0:132,98:18,53:2,42:NM_001130841.1(RTCA) c.453+281T>C,-:0.79,-:NOT_FOUND,- 1 100739009 . G . . NT END=100740379;NT GT ./. 1 100740522 . G . . NT END=100741154;NT GT ./. 1 100740694 rs3131833 G A 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.01597,A/0.984;PC=0.003;Gene=RTCA/NM_001130841.1/1;CC=c.654+173G>A;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.615+173G>A;VC=Intron;DM=RTCA/RTC;DM=RTCA/RTC_insert GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:250:28.79:0.00:28.79:1.00:0.00:1.00:60:40.0:0:0:100:51:17:NM_001130841.1(RTCA) c.654+173G>A,NM_001130841.1(RTCA) c.654+173G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 100741280 . G . . NT END=100742813;NT GT ./. 1 100742670 rs4495726 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2298,G/0.7702;Gene=RTCA/NM_001130841.1/1;CC=c.780-144A>G;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.741-144A>G;VC=Intron;DM=RTCA/RTC;DM=RTCA/RTC_insert GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G:12:12:0:0:9,3:265,86:0.00,7.10:0.00,7.10:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:15.9,28.7:0,0:0,0:77,9:73,142:46,6:-,NM_001130841.1(RTCA) c.780-144A>G:-,0.79:-,NOT_FOUND 1 100742873 . G . . NT END=100750783;NT GT ./. 1 100750733 rs58046505 AGTTTT A 37 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3056;PC=0.001;Gene=RTCA/NM_001130841.1/1;CC=c.839-25_839-21delGTTTT;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.800-25_800-21delGTTTT;VC=Intron;DM=RTCA/RTC;DM=RTCA/RTC_insert;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTTTT,A:35:31:0:13:22,13:692,413:0.00,37.48:0.00,27.18:0.00,10.30:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.8,2.4:0,0:0,0:37,15:108,131:24,13:-,NM_001130841.1(RTCA) c.839-50_839-46delGTTTT:-,NOT_FOUND:-,NOT_FOUND 1 100750879 . G . . NT END=100752654;NT GT ./. 1 100751055 rs10875286 G C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.2212,C/0.7788;Gene=RTCA/NM_001130841.1/1;CC=c.933+177G>C;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.894+177G>C;VC=Intron;DM=RTCA/RTC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:C,G:10:0:0:0:4,6:115,157:10.49,0.00:0.00,0.00:10.49,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:31.8,15.5:0,0:0,0:78,102:71,49:35,17:NM_001130841.1(RTCA) c.933+177G>C,-:0.79,-:NOT_FOUND,- 1 100752760 . G . . NT END=100756958;NT GT ./. 1 100752941 rs4908054 G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9489,A/0.05112;Gene=RTCA/NM_001130841.1/1;CC=c.1038+182G>A;VC=Intron;Gene=RTCA/NM_003729.3/0;CC=c.999+182G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:7:0:0:0:3,4:92,135:8.55,0.00:0.00,0.00:8.55,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:42.0,8.2:0,0:0,0:143,112:7,38:4,22:NM_001130841.1(RTCA) c.1038+182G>A,-:0.04,-:NOT_FOUND,- 1 100757061 . A . . NT END=100817312;NT GT ./. 1 100797449 rs614766 A T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.3742,T/0.6258;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:12:9:0:0:6,6:200,210:0.00,20.25:0.00,17.63:0.00,2.62:0.00,0.98:0.00,1.00:0.00,0.51:60,60:9.7,67.0:0,0:0,0:81,75:67,75:15,8:-,chr1 g.100797448A>T (intergenic):-,0.58:-,NOT_FOUND 1 100797473 rs614805 T C 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.363,C/0.637;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:12:0:0:8,7:252,242:24.51,0.00:21.64,0.00:2.88,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:58.0,8.3:0,0:0,0:92,99:58,51:20,23:chr1 g.100797472T>C (intergenic),-:0.59,-:NOT_FOUND,- 1 100817165 rs72060017 CCT C 68 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CCT/0.9101,C/0.08986;DB;DBA=NA;PAF=CCT/0.9101,C/0.08986;NP=16;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:CCT,C:20:20:0:19:1,19:35,604:0.00,67.73:0.00,67.73:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:0.0,22.5:0,0:0,0:137,47:8,104:0,29:NM_033312.2(CDC14A) c.-488-u857_-488-u856delCT,NM_033312.2(CDC14A) c.-488-u857_-488-u856delCT:0.11,0.11:NOT_FOUND,NOT_FOUND 1 100817365 . G . . NT END=100818022;NT GT ./. 1 100817384 rs28361189 A G 208 nt VT=SNV;PN=A;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.9103,G/0.08966;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:G:55:26:0:0:55:1818:207.97:69.08:138.88:1.00:1.00:1.00:60:45.6:0:0:111:33:25:NM_033312.2(CDC14A) c.-488-u639A>G,NM_033312.2(CDC14A) c.-488-u639A>G:0.11,0.11:NOT_FOUND,NOT_FOUND 1 100817559 rs370715549 T TGCGCGC 18 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=10;NP=17;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:T,TGCGCGC:10:1:6:0:4,6:134,177:0.00,17.63:0.00,-0.20:0.00,17.83:0.00,0.99:0.00,0.73:0.00,0.99:60,70:14.2,17.2:0,0:0,0:140,43:10,107:1,28:-,NM_033312.2(CDC14A) c.-488-u464_-488-u463insGCGCGC:-,NOT_FOUND:-,NOT_FOUND 1 100818286 rs527644 A T 618 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=A/0.1829,T/0.8171;PC=1.000;Gene=CDC14A/NM_033313.2/0;CC=c.-225A>T;VC=5UTR;Gene=CDC14A/NM_033312.2/0;CC=c.-225A>T;VC=5UTR;Gene=CDC14A/NM_003672.3/1;CC=c.-225A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:174:113:0:0:1,2,1,170:10,16,12,5402:0.00,0.14,0.10,617.99:0.00,0.10,0.10,288.80:0.00,0.04,0.00,329.19:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:165.0,33.5,12.0,38.4:0,0,0,0:0,0,0,0:36,116,62,79:111,34,89,65:0,17,0,35:NM_033312.2(CDC14A) c.-225A>T,NM_033312.2(CDC14A) c.-225A>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 100818464 rs594529 T C 525 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.01657,C/0.9834;PC=1.000;Gene=CDC14A/NM_033313.2/0;CC=c.-47T>C;VC=5UTR;Gene=CDC14A/NM_033312.2/0;CC=c.-47T>C;VC=5UTR;Gene=CDC14A/NM_003672.3/1;CC=c.-47T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:142:86:0:0:142:4579:525.24:219.88:305.36:1.00:1.00:1.00:60:41.4:0:0:73:76:31:NM_033312.2(CDC14A) c.=,NM_033312.2(CDC14A) c.=:0.98,0.98:0.984469,0.984469 1 100818560 . G . . NT END=100819317;NT GT ./. 1 100819273 rs2297170 T C 117 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.8295,C/0.1705;Gene=CDC14A/NM_033313.2/0;CC=c.50-45T>C;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.50-45T>C;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.50-45T>C;VC=Intron;DM=CDC14A/DSPn GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:26:0:0:32:1022:117.46:78.31:39.14:1.00:1.00:1.00:60:34.2:0:0:47:102:26:NM_033312.2(CDC14A) c.50-45T>C,NM_033312.2(CDC14A) c.50-45T>C:0.19,0.19:0.203106,0.203106 1 100819409 . G . . NT END=100843101;NT GT ./. 1 100831497 rs34281009 T TACACACACAC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12;NP=4;Gene=CDC14A/NM_033313.2/0;CC=c.141-11569_141-11568insACACACACAC;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.141-11569_141-11568insACACACACAC;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.141-11569_141-11568insACACACACAC;VC=Intron;DM=CDC14A/DSPn;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:T,TACACACACAC:3:3:3:0:1,2:9,101:0.00,6.77:0.00,5.31:0.00,1.46:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,30.0:0,1:0,0:17,52:133,98:0,10:-,NM_033312.2(CDC14A) c.141-11605_141-11604insACACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 100843178 . G . . NT END=100856287;NT GT ./. 1 100856381 . G . . NT END=100889777;NT GT ./. 1 100856479 rs28361213 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9155,T/0.08446;Gene=CDC14A/NM_033313.2/0;CC=c.309+99C>T;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.309+99C>T;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.309+99C>T;VC=Intron;DM=CDC14A/DSPn GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:276:31.42:0.00:31.42:1.00:0.00:1.00:60:35.8:0:0:57:93:29:NM_033312.2(CDC14A) c.309+99C>T,NM_033312.2(CDC14A) c.309+99C>T:0.1,0.1:NOT_FOUND,NOT_FOUND 1 100858699 rs7513335 T C 80 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.7943,C/0.2057;PC=0.015;Gene=CDC14A/NM_033313.2/0;CC=c.309+2319T>C;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.309+2319T>C;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.309+2319T>C;VC=Intron;DM=CDC14A/DSPn GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C,T:23:12:0:0:22,1:712,32:79.88,0.00:33.63,0.00:46.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,0.0:0,0:0,0:51,12:99,136:25,0:NM_033312.2(CDC14A) c.309+2319T>C,NM_033312.2(CDC14A) c.309+2319T>C:0.21,0.21:NOT_FOUND,NOT_FOUND 1 100889858 . G . . NT END=100905487;NT GT ./. 1 100905555 . G . . NT END=100908489;NT GT ./. 1 100908324 rs584350 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2875,G/0.7125;PC=0.005;Gene=CDC14A/NM_033313.2/0;CC=c.457-166A>G;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.457-166A>G;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.457-166A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:220:25.30:25.30:0.00:1.00:1.00:0.00:60:36.0:0:0:29:122:10:NM_033312.2(CDC14A) c.457-166A>G,NM_033312.2(CDC14A) c.457-166A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 100908553 . G . . NT END=100920960;NT GT ./. 1 100908577 rs78861171 A T 98 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.8994,T/0.1006;PC=0.006;Gene=CDC14A/NM_033313.2/0;CC=c.519+25A>T;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.519+25A>T;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.519+25A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:16:0:0:26:860:98.40:40.66:57.74:1.00:1.00:1.00:60:40.4:0:0:114:34:31:NM_033312.2(CDC14A) c.519+25A>T,NM_033312.2(CDC14A) c.519+25A>T:0.12,0.12:0.140822,0.140822 1 100908678 rs78315260 G T 37 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9708,T/0.02915;PC=0.001;Gene=CDC14A/NM_033313.2/0;CC=c.519+126G>T;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.519+126G>T;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.519+126G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:327:37.47:0.00:37.47:1.00:0.00:1.00:60:52.2:0:0:120:30:20:NM_033312.2(CDC14A) c.519+126G>T,NM_033312.2(CDC14A) c.519+126G>T:0.04,0.04:NOT_FOUND,NOT_FOUND 1 100921049 . G . . NT END=100928206;NT GT ./. 1 100921190 rs17122554 A G 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7376,G/0.2624;Gene=CDC14A/NM_033313.2/0;CC=c.607+142A>G;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.607+142A>G;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.607+142A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:369:42.15:0.00:42.15:1.00:0.00:1.00:60:50.2:0:0:116:35:26:NM_033312.2(CDC14A) c.607+142A>G,NM_033312.2(CDC14A) c.607+142A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 1 100928418 rs28364884 C G 114 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.998,G/0.001997;NP=49;Gene=CDC14A/NM_033313.2/0;CC=c.819C>G;ProtCh=p.A273=;VC=Silent;Gene=CDC14A/NM_033312.2/0;CC=c.819C>G;ProtCh=p.A273=;VC=Silent;Gene=CDC14A/NM_003672.3/1;CC=c.819C>G;ProtCh=p.A273=;VC=Silent;DM=CDC14A/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:73:34:0:0:36,37:1099,1187:0.00,114.43:0.00,40.71:0.00,73.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,46.2:0,0:0,0:89,74:58,65:25,26:-,NM_033312.2(CDC14A) c.819C>G (p.(=)):-,0.0041:-,0.004459 1 100928438 . G . . NT END=100933511;NT GT ./. 1 100933388 rs560431 T C 83 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.1813,C/0.8187;PC=0.001;Gene=CDC14A/NM_033313.2/0;CC=c.839-124T>C;VC=Intron;Gene=CDC14A/NM_033312.2/0;CC=c.839-124T>C;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.839-124T>C;VC=Intron;DM=CDC14A/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:22:0:0:22:724:82.85:74.79:8.05:1.00:1.00:1.00:60:43.0:0:0:65:86:45:NM_033312.2(CDC14A) c.839-124T>C,NM_033312.2(CDC14A) c.839-124T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 100933651 . G . . NT END=100949847;NT GT ./. 1 100949860 rs2270694 G A 32 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.9117,A/0.08826;Gene=CDC14A/NM_033313.2/0;CC=c.990G>A;ProtCh=p.S330=;VC=Silent;Gene=CDC14A/NM_033312.2/0;CC=c.990G>A;ProtCh=p.S330=;VC=Silent;Gene=CDC14A/NM_003672.3/1;CC=c.990G>A;ProtCh=p.S330=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:26:0:0:11,21:353,629:31.63,0.00:22.89,0.00:8.74,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:57.4,3.6:0,0:0,0:65,49:83,100:25,24:NM_033312.2(CDC14A) c.990G>A (p.(=)),-:0.1,-:0.107786,- 1 100950183 rs373460421 TA T 28 idl,rn VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=16;Gene=CDC14A/NM_033313.2/0;CC=c.*173delA;VC=3UTR;Gene=CDC14A/NM_033312.2/0;CC=c.1137+188delA;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.1137+188delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,TA,I,T:76:44:9:11:1,55,9,11:29,1628,256,356:1.19,0.00,18.58,27.91:-0.14,0.00,4.92,9.73:1.33,0.00,13.66,18.19:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:29.0,10.1,37.1,7.4:0,0,0,0:0,0,0,0:1,91,88,98:148,59,62,46:0,27,19,14:-,NM_033312.2(CDC14A) c.1137+177delA:-,NOT_FOUND:-,NOT_FOUND 1 100950468 rs693976 G T 218 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.09105,T/0.9089;Gene=CDC14A/NM_033313.2/0;CC=c.*446G>T;VC=3UTR;Gene=CDC14A/NM_033312.2/0;CC=c.1137+461G>T;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.1137+461G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:T:57:35:0:0:57:1908:217.93:104.29:113.64:1.00:1.00:1.00:60:46.5:0:0:84:67:37:NM_033312.2(CDC14A) c.1137+461G>T,NM_033312.2(CDC14A) c.1137+461G>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 100950919 rs2008056 C T 125 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.1218,T/0.8782;Gene=CDC14A/NM_033313.2/0;CC=c.*897C>T;VC=3UTR;Gene=CDC14A/NM_033312.2/0;CC=c.1137+912C>T;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.1137+912C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:T:36:8:0:0:36:1083:125.36:20.85:104.50:1.00:1.00:1.00:60:40.1:0:0:117:32:19:NM_033312.2(CDC14A) c.1137+912C>T,NM_033312.2(CDC14A) c.1137+912C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 1 100950927 . G . . NT END=100960373;NT GT ./. 1 100958396 rs397980980 CTGTG C 16 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CTGTG/0.09385,C/0.9062;DB;DBA=NA;PAF=CTGTG/0.09385,C/0.9062;DB;DBA=NA;PAF=CTGTG/0.09385,C/0.9062;NP=634;PC=0.104;Gene=CDC14A/NM_033312.2/0;CC=c.1138-1958_1138-1955delGTGT;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.1138-1958_1138-1955delGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:4:4:137:15.61:5.87:9.74:1.00:1.00:1.00:70:0.0:0:0:90:60:20:NM_033312.2(CDC14A) c.1138-1977_1138-1974delTGTG,NM_033312.2(CDC14A) c.1138-1977_1138-1974delTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 100960487 . G . . NT END=100961557;NT GT ./. 1 100961419 rs2270692 A G 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.09125,G/0.9087;PC=0.004;Gene=CDC14A/NM_033312.2/0;CC=c.1251-139A>G;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.1251-139A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:341:39.29:39.29:0.00:1.00:1.00:0.00:60:43.9:0:0:45:106:24:NM_033312.2(CDC14A) c.1251-139A>G,NM_033312.2(CDC14A) c.1251-139A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 100961606 . G . . NT END=100963640;NT GT ./. 1 100961779 rs540495933 ATT A 12 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=ATT/0.09325,A/0.9067;DB;DBA=NA;PAF=ATT/0.09325,A/0.9067;NP=136;PC=0.001;Gene=CDC14A/NM_033312.2/0;CC=c.1298+188_1298+189delTT;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.1298+188_1298+189delTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:ATT,A:8:0:0:4:4,4:131,125:0.00,12.00:0.00,0.00:0.00,12.00:0.00,0.87:0.00,0.00:0.00,0.87:60,60:0.0,2.8:0,0:0,0:133,92:13,58:2,26:-,NM_033312.2(CDC14A) c.1298+175_1298+176delTT:-,NOT_FOUND:-,NOT_FOUND 1 100963418 rs904296 T G 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.09185,A/.,G/0.9081;Gene=CDC14A/NM_033312.2/0;CC=c.1299-223T>G;VC=Intron;Gene=CDC14A/NM_003672.3/1;CC=c.1299-223T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:306:35.37:35.37:0.00:1.00:1.00:0.00:60:35.7:0:0:31:119:21:NM_033312.2(CDC14A) c.1299-223T>G,NM_033312.2(CDC14A) c.1299-223T>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 100963764 . G . . NT END=100964484;NT GT ./. 1 100965022 . T . . NT END=100970369;NT GT ./. 1 100970346 rs10875295 T C 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.5064,C/0.4936;Gene=CDC14A/NM_003672.3/1;CC=c.1755+5528T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:24:0:0:12,17:412,551:38.38,0.00:23.72,0.00:14.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,8.2:0,0:0,0:50,50:92,100:13,31:NM_003672.3(CDC14A) c.1755+5528T>C,-:0.49,-:NOT_FOUND,- 1 100970562 . A . . NT END=100983806;NT GT ./. 1 100983837 . G . . NT END=101004522;NT GT ./. 1 101004185 rs2809821 C G,GTGTGTG 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:21:C,G,GTGTGTG:4:4:2:0:1,1,2:14,36,65:0.00,3.35,6.56:0.00,3.35,6.56:0.00,0.00,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.00:60,60,70:0.0,71.0,48.0:0,0,0:0,0,0:93,107,17:20,20,133:0,0,8:NM_022049.2(GPR88) c.-74+127C>G,NM_022049.2(GPR88) c.-74+127delCinsGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 101005678 . C . . NT END=101185416;NT GT ./. 1 101005855 rs2809818 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.2472,C/0.7528;Gene=GPR88/NM_022049.2/1;CC=c.*178T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:C,T:21:0:0:0:6,15:188,480:16.20,0.00:0.00,0.00:16.20,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:33.2,24.0:0,0:0,0:84,103:66,47:13,24:NM_022049.2(GPR88) c.*178T>C,-:0.78,-:NOT_FOUND,- 1 101089492 rs572002928 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5321,C/0.4679;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:4:3:0:0:2,2:66,69:0.00,6.65:0.00,7.10:0.00,-0.45:0.00,0.51:0.00,0.89:0.00,0.79:60,60:56.0,63.5:0,0:0,0:54,48:49,101:42,9:-,chr1 g.101089491A>C (intergenic):-,0.45:-,NOT_FOUND 1 101089512 rs2998659 C G 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:5:4:0:0:3,2:104,70:0.00,6.49:0.00,1.35:0.00,5.15:0.00,0.46:0.00,0.87:0.00,0.87:65,60:54.7,56.0:0,0:0,0:81,74:69,29:18,42:-,chr1 g.101089511C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 101185481 . G . . NT END=101186031;NT GT ./. 1 101186308 . G . . NT END=101188575;NT GT ./. 1 101188897 . G . . NT END=101190179;NT GT ./. 1 101189027 rs1476408 C G 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.01558,G/0.9844;PC=0.002;Gene=VCAM1/NM_001078.3/1;CC=c.661+131C>G;VC=Intron;Gene=VCAM1/NM_001199834.1/0;CC=c.475+131C>G;VC=Intron;Gene=VCAM1/NM_080682.2/0;CC=c.661+131C>G;VC=Intron;DM=VCAM1/C2-set;DM=VCAM1/C2-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:0:0:0:23:726:83.51:0.00:83.51:1.00:0.00:1.00:60:56.9:0:0:117:34:14:NM_001078.3(VCAM1) c.661+131C>G,NM_001078.3(VCAM1) c.661+131C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 101190447 . G . . NT END=101194662;NT GT ./. 1 101194939 . G . . NT END=101196753;NT GT ./. 1 101194965 rs68164684 G GT 169 idl,rn VT=INS;SST=Single;DP=73;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=586;Gene=VCAM1/NM_001078.3/1;CC=c.1204+38dupT;VC=Intron;Gene=VCAM1/NM_001199834.1/0;CC=c.1018+38dupT;VC=Intron;Gene=VCAM1/NM_080682.2/0;CC=c.929-1778dupT;VC=Intron;DM=VCAM1/Ig_2;DM=VCAM1/I-set;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:68:21:57:0:16,52:515,1753:0.00,168.78:0.00,36.81:0.00,131.97:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.8,13.0:1,5:0,0:132,89:12,58:17,25:-,NM_001078.3(VCAM1) c.1204+27_1204+28insT:-,NOT_FOUND:-,NOT_FOUND 1 101197075 . G . . NT END=101197973;NT GT ./. 1 101197289 rs3176871 A G 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.07268,G/0.9273;Gene=VCAM1/NM_001078.3/1;CC=c.1525+215A>G;VC=Intron;Gene=VCAM1/NM_001199834.1/0;CC=c.1339+215A>G;VC=Intron;Gene=VCAM1/NM_080682.2/0;CC=c.1249+215A>G;VC=Intron;DM=VCAM1/I-set;DM=VCAM1/C2-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:0:0:0:8:232:26.94:0.00:26.94:1.00:0.00:1.00:60:52.1:0:0:103:47:33:NM_001078.3(VCAM1) c.1525+215A>G,NM_001078.3(VCAM1) c.1525+215A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 101198241 . G . . NT END=101200057;NT GT ./. 1 101199979 rs3176875 A G 122 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.08586,G/0.9141;Gene=VCAM1/NM_001078.3/1;CC=c.1793-79A>G;VC=Intron;Gene=VCAM1/NM_001199834.1/0;CC=c.1607-79A>G;VC=Intron;Gene=VCAM1/NM_080682.2/0;CC=c.1517-79A>G;VC=Intron;DM=VCAM1/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:31:0:0:32:1065:121.71:101.83:19.88:1.00:1.00:1.00:60:39.2:0:0:35:111:28:NM_001078.3(VCAM1) c.1793-79A>G,NM_001078.3(VCAM1) c.1793-79A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 101200325 . G . . NT END=101203678;NT GT ./. 1 101203698 rs3176878 C T 109 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.8708,T/0.1292;PC=0.934;Gene=VCAM1/NM_001078.3/1;CC=c.2079C>T;ProtCh=p.D693=;VC=Silent;Gene=VCAM1/NM_001199834.1/0;CC=c.1893C>T;ProtCh=p.D631=;VC=Silent;Gene=VCAM1/NM_080682.2/0;CC=c.1803C>T;ProtCh=p.D601=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:57:0:0:40,36:1297,1146:0.00,108.93:0.00,61.48:0.00,47.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.4,40.8:0,0:0,0:81,81:61,69:25,25:-,NM_001078.3(VCAM1) c.2079C>T (p.(=)):-,0.12:-,0.166615 1 101203827 rs3176879 G A 224 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.1288,A/0.8712;PC=0.826;Gene=VCAM1/NM_001078.3/1;CC=c.2208G>A;ProtCh=p.K736=;VC=Silent;Gene=VCAM1/NM_001199834.1/0;CC=c.2022G>A;ProtCh=p.K674=;VC=Silent;Gene=VCAM1/NM_080682.2/0;CC=c.1932G>A;ProtCh=p.K644=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:A:61:23:0:0:61:1953:224.34:64.94:159.40:1.00:1.00:1.00:60:42.1:0:0:77:69:27:NM_001078.3(VCAM1) c.2208G>A (p.(=)),NM_001078.3(VCAM1) c.2208G>A (p.(=)):0.87,0.87:0.884574,0.884574 1 101203840 . C . . NT END=101339497;NT GT ./. 1 101339987 . C . . NT END=101342349;NT GT ./. 1 101340134 rs12039319 C T 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.648,T/0.352;Gene=EXTL2/NM_001033025.2/0;CC=c.505-148G>A;VC=Intron;Gene=EXTL2/NM_001261440.1/0;CC=c.502-148G>A;VC=Intron;Gene=EXTL2/NM_001261441.1/1;CC=c.529-148G>A;VC=Intron;Gene=EXTL2/NM_001261442.1/0;CC=c.434-148G>A;VC=Intron;Gene=EXTL2/NM_001439.3/0;CC=c.505-148G>A;VC=Intron;Gene=EXTL2/NR_048570.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:17:0:0:0:11,6:326,196:0.00,17.68:0.00,0.00:0.00,17.68:0.00,0.95:0.00,0.00:0.00,0.95:60,60:3.4,52.5:0,0:0,0:92,116:59,34:37,13:-,NM_001261441.1(EXTL2) c.529-148G>A:-,0.35:-,NOT_FOUND 1 101342421 . C . . NT END=101343031;NT GT ./. 1 101342497 rs2295280 T C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.6779,C/0.3221;Gene=EXTL2/NM_001033025.2/0;CC=c.434-77A>G;VC=Intron;Gene=EXTL2/NM_001261440.1/0;CC=c.434-80A>G;VC=Intron;Gene=EXTL2/NM_001261441.1/1;CC=c.458-77A>G;VC=Intron;Gene=EXTL2/NM_001261442.1/0;CC=c.433+535A>G;VC=Intron;Gene=EXTL2/NM_001439.3/0;CC=c.434-77A>G;VC=Intron;Gene=EXTL2/NR_048570.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:12:0:0:12,13:388,431:36.99,0.00:8.73,0.00:28.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,2.2:0,0:0,0:118,117:32,28:20,21:NM_001261441.1(EXTL2) c.458-77A>G,-:0.34,-:NOT_FOUND,- 1 101342650 rs10493937 T A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6787,A/0.3213;PC=0.011;Gene=EXTL2/NM_001033025.2/0;CC=c.434-230A>T;VC=Intron;Gene=EXTL2/NM_001261440.1/0;CC=c.434-233A>T;VC=Intron;Gene=EXTL2/NM_001261441.1/1;CC=c.458-230A>T;VC=Intron;Gene=EXTL2/NM_001261442.1/0;CC=c.433+382A>T;VC=Intron;Gene=EXTL2/NM_001439.3/0;CC=c.434-230A>T;VC=Intron;Gene=EXTL2/NR_048570.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,T:5:0:0:0:3,2:91,63:9.07,0.00:0.00,0.00:9.07,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:49.3,13.5:0,0:0,0:47,118:103,32:3,31:NM_001261441.1(EXTL2) c.458-230A>T,-:0.34,-:NOT_FOUND,- 1 101343460 . C . . NT END=101346476;NT GT ./. 1 101346290 rs1040668 C G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.03614,G/0.9639;PC=0.118;Gene=EXTL2/NM_001033025.2/0;CC=c.6-2831G>C;VC=Intron;Gene=EXTL2/NM_001261440.1/0;CC=c.6-2831G>C;VC=Intron;Gene=EXTL2/NM_001261441.1/1;CC=c.6-2287G>C;VC=Intron;Gene=EXTL2/NM_001261442.1/0;CC=c.6-2831G>C;VC=Intron;Gene=EXTL2/NM_001439.3/0;CC=c.6-2831G>C;VC=Intron;Gene=EXTL2/NR_048570.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,G:9:9:0:0:3,6:102,182:0.00,18.54:0.00,18.54:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,30.3:0,0:0,0:41,46:110,104:11,8:-,NM_001261441.1(EXTL2) c.6-2287G>C:-,0.96:-,NOT_FOUND 1 101346490 rs4316382 C T 70 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.07827,T/0.9217;Gene=EXTL2/NM_001033025.2/0;CC=c.6-3031G>A;VC=Intron;Gene=EXTL2/NM_001261440.1/0;CC=c.6-3031G>A;VC=Intron;Gene=EXTL2/NM_001261441.1/1;CC=c.6-2487G>A;VC=Intron;Gene=EXTL2/NM_001261442.1/0;CC=c.6-3031G>A;VC=Intron;Gene=EXTL2/NM_001439.3/0;CC=c.6-3031G>A;VC=Intron;Gene=EXTL2/NR_048570.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:33:0:0:23,22:699,734:0.00,70.34:0.00,52.55:0.00,17.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,36.7:0,0:0,0:63,78:75,73:34,31:-,NM_001261441.1(EXTL2) c.6-2487G>A:-,0.93:-,NOT_FOUND 1 101346608 . C . . NT END=101354308;NT GT ./. 1 101354314 . T . . NT END=101361818;NT GT ./. 1 101361899 . G . . NT END=101362125;NT GT ./. 1 101362228 . G . . NT END=101372407;NT GT ./. 1 101372522 . G . . NT END=101376618;NT GT ./. 1 101372607 rs4908106 C A 51 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.002396,A/0.9976;NP=2693;Gene=SLC30A7/NM_001144884.1/1;CC=c.296+86C>A;VC=Intron;Gene=SLC30A7/NM_133496.4/0;CC=c.296+86C>A;VC=Intron;DM=SLC30A7/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:0:0:0:14:442:50.87:0.00:50.87:1.00:0.00:1.00:60:48.6:0:0:92:57:22:NM_133496.4(SLC30A7) c.296+86C>A,NM_133496.4(SLC30A7) c.296+86C>A:1,1:NOT_FOUND,NOT_FOUND 1 101376707 . G . . NT END=101377667;NT GT ./. 1 101377795 . G . . NT END=101379218;NT GT ./. 1 101379363 . G . . NT END=101383632;NT GT ./. 1 101383684 . G . . NT END=101387261;NT GT ./. 1 101387398 . G . . NT END=101427383;NT GT ./. 1 101427475 . G . . NT END=101431324;NT GT ./. 1 101431475 . G . . NT END=101440365;NT GT ./. 1 101440414 . T . . NT END=101455963;NT GT ./. 1 101456188 . C . . NT END=101458192;NT GT ./. 1 101456192 . TA T 13 rn VT=DEL;SST=Single;DP=78;NP=22;Gene=DPH5/NM_001077394.1/0;CC=c.635-6delT;VC=Intron;Gene=DPH5/NM_001077395.1/1;CC=c.635-9delT;VC=Intron;Gene=DPH5/NM_015958.2/0;CC=c.635-6delT;VC=Intron;DM=DPH5/TP_methylase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:G,TA,I,T:77:37:3:6:1,68,2,6:14,2046,81,189:-0.10,0.00,2.00,12.74:0.16,0.00,-0.25,3.38:-0.26,0.00,2.26,9.36:0.00,0.00,0.00,0.78:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.97:60,60,60,60:14.0,16.6,69.5,3.3:0,0,1,0:0,0,0,0:147,102,54,82:3,40,97,68:0,25,6,26:-,NM_001077394.1(DPH5) c.635-6delT:-,NOT_FOUND:-,0.008482 1 101458297 . C . . NT END=101460665;NT GT ./. 1 101460706 . C . . NT END=101467022;NT GT ./. 1 101460891 rs74342616 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9886,T/0.01138;PC=0.556;Gene=DPH5/NM_001077394.1/0;CC=c.491-186G>A;VC=Intron;Gene=DPH5/NM_001077395.1/1;CC=c.491-186G>A;VC=Intron;Gene=DPH5/NM_015958.2/0;CC=c.491-186G>A;VC=Intron;DM=DPH5/TP_methylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:7:0:0:0:2,5:70,137:0.00,14.20:0.00,0.00:0.00,14.20:0.00,0.98:0.00,0.00:0.00,0.98:60,60:9.0,47.2:0,0:0,0:69,90:80,61:59,31:-,NM_001077394.1(DPH5) c.491-186G>A:-,0.02:-,NOT_FOUND 1 101467144 . C . . NT END=101479265;NT GT ./. 1 101479375 . C . . NT END=101487196;NT GT ./. 1 101487322 . C . . NT END=101490864;NT GT ./. 1 101487373 rs67726104 AACACAC A 25 sb;idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;Gene=DPH5/NM_001077394.1/0;CC=c.136-58_136-53delGTGTGT;VC=Intron;Gene=DPH5/NM_001077395.1/1;CC=c.136-58_136-53delGTGTGT;VC=Intron;Gene=DPH5/NM_015958.2/0;CC=c.136-58_136-53delGTGTGT;VC=Intron;DM=DPH5/TP_methylase;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AACACAC,A:42:31:0:19:31,11:933,477:0.00,24.73:0.00,-0.07:0.00,24.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,23.4:0,6:0,0:122,70:27,79:12,26:-,NM_001077394.1(DPH5) c.136-58_136-53delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 101491003 . A . . NT END=101704540;NT GT ./. 1 101704233 rs397802137 T TA 18 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4113,TA/0.4834,TTAAAA/.;DB;DBA=NA;PAF=T/0.4113,A/0.1052;DB;DBA=NA;PAF=T/0.4113,TA/0.4834;NP=11;Gene=S1PR1/NM_001400.4/1;CC=c.-163-137dupA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TA:5:5:5:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:7.6:0:0:26:125:7:NM_001400.4(S1PR1) c.-163-145_-163-144insA,NM_001400.4(S1PR1) c.-163-145_-163-144insA:0.59,0.59:NOT_FOUND,NOT_FOUND 1 101704532 rs3737577 G T 207 nt VT=SNV;PN=G;NN=T;SST=Single;DP=153;DB;DBA=NA;PAF=G/0.8536,T/0.1464;Gene=S1PR1/NM_001400.4/1;CC=c.-9G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:153:138:0:0:1,81,71:10,2509,2190:-0.17,0.00,207.24:-0.12,0.00,160.08:-0.06,0.00,47.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:55.0,4.5,40.6:0,0,0:0,0,0:32,48,37:119,94,111:0,26,26:-,NM_001400.4(S1PR1) c.-9G>T:-,0.19:-,0.241427 1 101705690 . A . . NT END=102269793;NT GT ./. 1 101867800 rs10874488 G A 15 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1565,A/0.8435 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:128:14.71:1.89:12.82:1.00:1.00:1.00:60:32.0:0:0:95:56:18:chr1 g.101867799G>A (intergenic),chr1 g.101867799G>A (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 1 102251767 rs57127067 CTT C 25 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;PC=0.079;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CTT,C:11:18:0:16:3,8:38,459:0.00,24.85:0.00,24.85:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:90.7,118.9:0,7:0,0:117,41:17,109:8,24:-,chr1 g.102251768_102251769delTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 102251812 . C CT 9 rn VT=INS;SST=Single;DP=29;NP=1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CT,D:29:28:4:1:24,4,1:691,116,32:0.00,8.54,1.85:0.00,8.63,1.88:0.00,-0.10,-0.02:0.00,0.65,0.00:0.00,0.95,0.00:0.00,0.38,0.00:60,60,40:36.4,34.0,10.0:0,0,0:0,0,0:41,25,8:109,126,141:21,13,0:-,chr1 g.102251812_102251813insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 102252790 rs12129772 C T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.9283,T/0.07169;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:21:0:0:25,11:764,349:0.00,30.53:0.00,9.54:0.00,21.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,31.9:0,0:0,0:69,101:67,43:28,23:-,chr1 g.102252789C>T (intergenic):-,0.08:-,NOT_FOUND 1 102270472 . C . . NT END=102271631;NT GT ./. 1 102270768 rs1327595 T A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1653,A/0.8347;Gene=OLFM3/NM_001288821.1/0;CC=c.760-297A>T;VC=Intron;Gene=OLFM3/NR_110212.1/0;VC=NonCoding;Gene=OLFM3/NM_001288823.1/1;CC=c.475-297A>T;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.700-297A>T;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:32.2:0:0:87:62:12:NM_058170.2(OLFM3) c.700-297A>T,NM_058170.2(OLFM3) c.700-297A>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 102270786 rs5776593 T TACA 18 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1959,TACA/0.8033;DB;DBA=NA;PAF=T/0.1959,TAAA/0.0007987,TACA/0.8033;NP=13;Gene=OLFM3/NM_001288821.1/0;CC=c.760-318_760-316dupTGT;VC=Intron;Gene=OLFM3/NR_110212.1/0;VC=NonCoding;Gene=OLFM3/NM_001288823.1/1;CC=c.475-318_475-316dupTGT;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.700-318_700-316dupTGT;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TACA:5:0:5:0:5:158:18.18:0.00:18.18:1.00:0.00:1.00:60:25.8:0:0:104:46:23:NM_058170.2(OLFM3) c.700-316_700-315insTGT,NM_058170.2(OLFM3) c.700-316_700-315insTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 102271739 . C . . NT END=102277965;NT GT ./. 1 102278703 . C . . NT END=102290581;NT GT ./. 1 102290802 . C . . NT END=102296227;NT GT ./. 1 102296384 . C . . NT END=102302434;NT GT ./. 1 102302582 . C . . NT END=102312400;NT GT ./. 1 102312637 . C . . NT END=102375591;NT GT ./. 1 102312703 rs4907956 G T 164 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.8433,T/0.1567;PC=0.002;Gene=OLFM3/NM_001288823.1/1;CC=c.-156-10122C>A;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.70-10122C>A;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:T:45:11:0:0:45:1427:164.02:21.07:142.95:1.00:1.00:1.00:60:38.6:0:0:103:48:28:NM_058170.2(OLFM3) c.70-10122C>A,NM_058170.2(OLFM3) c.70-10122C>A:0.18,0.18:NOT_FOUND,NOT_FOUND 1 102360950 rs17472415 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8942,T/0.1058;Gene=OLFM3/NM_001288823.1/1;CC=c.-156-58369G>A;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.70-58369G>A;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:141:16.01:8.00:8.00:1.00:1.00:1.00:70:42.2:0:0:46:96:20:NM_058170.2(OLFM3) c.70-58369G>A,NM_058170.2(OLFM3) c.70-58369G>A:0.12,0.12:NOT_FOUND,NOT_FOUND 1 102375655 . A . . NT END=102462303;NT GT ./. 1 102375888 rs10782859 A G 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5176,G/0.4824;Gene=OLFM3/NM_001288823.1/1;CC=c.-157+57188T>C;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.70-73307T>C;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:326:37.77:0.00:37.77:1.00:0.00:1.00:60:79.1:0:0:129:22:16:NM_058170.2(OLFM3) c.70-73307T>C,NM_058170.2(OLFM3) c.70-73307T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 102375891 rs10782860 G A 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6995,A/0.3005;Gene=OLFM3/NM_001288823.1/1;CC=c.-157+57185C>T;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.70-73310C>T;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:304:35.60:0.00:35.60:1.00:0.00:1.00:60:79.1:0:0:132:19:16:NM_058170.2(OLFM3) c.70-73310C>T,NM_058170.2(OLFM3) c.70-73310C>T:0.32,0.32:NOT_FOUND,NOT_FOUND 1 102375938 rs2339117 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5609,T/0.4391;Gene=OLFM3/NM_001288823.1/1;CC=c.-157+57138G>A;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.70-73357G>A;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:106:12.46:0.00:12.46:1.00:0.00:1.00:60:107.0:0:0:66:84:28:NM_058170.2(OLFM3) c.70-73357G>A,NM_058170.2(OLFM3) c.70-73357G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 102431873 rs371512942 T TTTTGTGTGTGTG 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=21;NP=3;PC=0.024;Gene=OLFM3/NM_001288823.1/1;CC=c.-157+1202_-157+1203insCACACACACAAA;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.69+30430_69+30431insCACACACACAAA;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TTTTGTGTGTGTG:3:3:4:0:3:118:9.45:5.38:4.07:0.85:0.99:0.85:70:52.3:1:0:57:88:21:NM_058170.2(OLFM3) c.69+30430_69+30431insCACACACACAAA,NM_058170.2(OLFM3) c.69+30430_69+30431insCACACACACAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 102462156 rs1415092 G C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8347,C/0.1653;PC=0.700;Gene=OLFM3/NM_001288823.1/1;CC=c.-218+148C>G;VC=Intron;Gene=OLFM3/NM_058170.3/0;CC=c.69+148C>G;VC=Intron;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,G:11:11:0:0:6,5:177,141:17.28,0.00:17.28,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:38.2,27.4:0,0:0,0:77,131:74,20:29,11:NM_058170.2(OLFM3) c.69+148C>G,-:0.17,-:NOT_FOUND,- 1 102462373 . T . . NT END=103343574;NT GT ./. 1 102462446 rs67744758 GTCAGT G 45 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=GTCAGT/0.7252,G/0.2748;DB;DBA=NA;PAF=GTCAGT/0.7252,G/0.2748;NP=1168;PC=0.997;Gene=OLFM3/NM_001288823.1/1;CC=c.-365_-361delACTGA;VC=5UTR;Gene=OLFM3/NM_058170.3/0;CC=c.-79_-75delACTGA;VC=5UTR;Gene=OLFM3/NR_110210.1/0;VC=NonCoding;Gene=OLFM3/NR_110211.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTCAGT,G:39:18:0:15:24,15:765,489:0.00,44.79:0.00,17.05:0.00,27.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,4.3:0,0:0,0:100,105:49,46:29,24:-,NM_058170.2(OLFM3) c.-79_-75delACTGA:-,0.27:-,NOT_FOUND 1 102500525 rs71592235 A ATGTG 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6571,ATG/0.3429,ATGTG/.,ATGTGTG/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6571,ATG/0.3429;NP=2;NP=2;NP=38;NP=81;PC=0.004;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,ATGTG:4:4:3:0:2,2:46,102:0.00,6.52:0.00,4.78:0.00,1.74:0.00,0.46:0.00,0.87:0.00,0.70:60,60:5.0,0.0:0,1:0,0:113,69:21,64:1,22:-,chr1 g.102500525_102500526insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 102813946 rs72176068 CTGTG C 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CTGTG,C:5:1:0:5:1,4:35,160:0.00,13.43:0.00,3.60:0.00,9.83:0.00,0.93:0.00,0.78:0.00,0.99:60,60:0.0,2.5:0,1:0,0:109,48:38,101:0,30:-,chr1 g.102813947_102813950delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 102978319 rs200268217 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=44;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:5:4:0:1:3,2:98,63:9.77,0.00:3.06,0.00:6.71,0.00:0.78,0.00:0.97,0.00:0.97,0.00:70,60:76.0,0.0:0,0:0,0:59,73:15,44:5,15:chr1 g.102978318G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 103105776 rs371453652 A G,GTG 14 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4521,G/0.5479;DB;DBA=NA;PAF=NA;NP=22;NP=26;NP=3;NP=34;NP=36;NP=36;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:106:G,GTG:7:5:4:0:3,4:105,135:10.83,14.44:5.41,5.35:5.41,9.09:0.00,0.90:0.00,0.98:0.00,0.99:60,70:35.0,41.0:0,0:0,0:112,62:36,89:10,4:chr1 g.103105775A>G (intergenic),chr1 g.103105776delAinsGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 103343722 . C . . NT END=103345238;NT GT ./. 1 103345473 . C . . NT END=103347252;NT GT ./. 1 103347322 . C . . NT END=103348754;NT GT ./. 1 103348868 . C . . NT END=103352362;NT GT ./. 1 103352076 rs1463048 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5154,T/0.4846;Gene=COL11A1/NM_001190709.1/0;CC=c.4741+287G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4858+287G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4894+287G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4510+287G>A;VC=Intron;DM=COL11A1/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:35.0:0:0:71:79:12:NM_080629.2(COL11A1) c.4894+287G>A,NM_080629.2(COL11A1) c.4894+287G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 103352451 rs2229783 A G 277 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.5154,G/0.4846;PC=0.032;Gene=COL11A1/NM_001190709.1/0;CC=c.4653T>C;ProtCh=p.I1551=;VC=Silent;Gene=COL11A1/NM_001854.3/0;CC=c.4770T>C;ProtCh=p.I1590=;VC=Silent;Gene=COL11A1/NM_080629.2/1;CC=c.4806T>C;ProtCh=p.I1602=;VC=Silent;Gene=COL11A1/NM_080630.3/0;CC=c.4422T>C;ProtCh=p.I1474=;VC=Silent;DM=COL11A1/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:77:55:0:0:76,1:2413,14:277.07,0.29:152.29,0.29:124.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,14.0:0,0:0,0:72,137:77,13:32,0:NM_080629.2(COL11A1) c.4806T>C (p.(=)),NM_080629.2(COL11A1) c.4806T>C (p.(=)):0.52,0.52:0.448408,0.448408 1 103352613 . C . . NT END=103354132;NT GT ./. 1 103352773 rs11164628 C T 72 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5154,T/0.4846;Gene=COL11A1/NM_001190709.1/0;CC=c.4492-161G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4609-161G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4645-161G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4261-161G>A;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:1:0:0:19:625:71.56:1.99:69.57:1.00:1.00:1.00:60:62.7:0:0:81:69:41:NM_080629.2(COL11A1) c.4645-161G>A,NM_080629.2(COL11A1) c.4645-161G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 103352801 rs11164629 G A 49 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5154,A/0.4846;Gene=COL11A1/NM_001190709.1/0;CC=c.4492-189C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4609-189C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4645-189C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4261-189C>T;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:A,C:14:1:0:0:13,1:435,10:49.28,0.45:1.97,0.00:47.31,0.45:1.00,0.00:0.95,0.00:1.00,0.00:60,60:67.1,148.0:0,0:0,0:91,54:60,94:23,0:NM_080629.2(COL11A1) c.4645-189C>T,NM_080629.2(COL11A1) c.4645-189C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 103353867 rs2783569 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3772,T/0.6228;Gene=COL11A1/NM_001190709.1/0;CC=c.4491+266G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4608+266G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4644+266G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4260+266G>A;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:254:29.21:29.21:0.00:1.00:1.00:0.00:60:115.4:0:0:33:117:13:NM_080629.2(COL11A1) c.4644+266G>A,NM_080629.2(COL11A1) c.4644+266G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 103353900 rs11164632 A T 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5156,T/0.4844;Gene=COL11A1/NM_001190709.1/0;CC=c.4491+233T>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4608+233T>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4644+233T>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4260+233T>A;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:302:34.91:34.91:0.00:1.00:1.00:0.00:60:132.1:0:0:56:93:21:NM_080629.2(COL11A1) c.4644+233T>A,NM_080629.2(COL11A1) c.4644+233T>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 103353933 rs11164633 G T 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5156,T/0.4844;Gene=COL11A1/NM_001190709.1/0;CC=c.4491+200C>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4608+200C>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4644+200C>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4260+200C>A;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:449:51.99:51.99:0.00:1.00:1.00:0.00:60:109.9:0:0:58:64:35:NM_080629.2(COL11A1) c.4644+200C>A,NM_080629.2(COL11A1) c.4644+200C>A:0.5,0.5:NOT_FOUND,NOT_FOUND 1 103353934 rs2615980 C T 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4171,T/0.5829;Gene=COL11A1/NM_001190709.1/0;CC=c.4491+199G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4608+199G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4644+199G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4260+199G>A;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:442:51.23:51.23:0.00:1.00:1.00:0.00:60:109.9:0:0:59:63:35:NM_080629.2(COL11A1) c.4644+199G>A,NM_080629.2(COL11A1) c.4644+199G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 103354138 rs1676486 A G 207 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.2171,G/0.7829;PC=1.000;Gene=COL11A1/NM_001190709.1/0;CC=c.4486T>C;ProtCh=p.S1496P;VC=Missense;Gene=COL11A1/NM_001854.3/0;CC=c.4603T>C;ProtCh=p.S1535P;VC=Missense;Gene=COL11A1/NM_080629.2/1;CC=c.4639T>C;ProtCh=p.S1547P;VC=Missense;Gene=COL11A1/NM_080630.3/0;CC=c.4255T>C;ProtCh=p.S1419P;VC=Missense;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:G:55:43:0:0:55:1812:207.40:130.48:76.92:1.00:1.00:1.00:60:38.6:0:0:66:84:29:NM_080629.2(COL11A1) c.4639T>C (p.Ser1547Pro),NM_080629.2(COL11A1) c.4639T>C (p.Ser1547Pro):0.82,0.82:0.807012,0.807012 1 103354187 . C . . NT END=103354278;NT GT ./. 1 103354315 . C . . NT END=103354421;NT GT ./. 1 103354428 rs1763347 A G 172 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.3774,G/0.6226;PC=0.995;Gene=COL11A1/NM_001190709.1/0;CC=c.4395T>C;ProtCh=p.G1465=;VC=Silent;Gene=COL11A1/NM_001854.3/0;CC=c.4512T>C;ProtCh=p.G1504=;VC=Silent;Gene=COL11A1/NM_080629.2/1;CC=c.4548T>C;ProtCh=p.G1516=;VC=Silent;Gene=COL11A1/NM_080630.3/0;CC=c.4164T>C;ProtCh=p.G1388=;VC=Silent;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:45:25:0:0:45:1502:171.60:63.11:108.49:1.00:1.00:1.00:60:41.5:0:0:69:74:39:NM_080629.2(COL11A1) c.4548T>C (p.(=)),NM_080629.2(COL11A1) c.4548T>C (p.(=)):0.68,0.68:0.622943,0.622943 1 103354476 . C . . NT END=103355010;NT GT ./. 1 103354939 rs71094579 C CTGTGTGTGTG 29 idl,nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.3307,CTG/0.08586,CTGTG/0.02815,CTGTGTG/0.02097,CTGTGTGTG/0.03255,CTGTGTGTGTG/0.4181,CTGTGTGTGTGTG/0.04992,CTGTGTGTGTGTGTG/0;DB;DBA=NA;PAF=NA;NP=14;NP=218;Gene=COL11A1/NM_001190709.1/0;CC=c.4347+71_4347+72insCACACACACA;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4464+71_4464+72insCACACACACA;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4500+71_4500+72insCACACACACA;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4116+71_4116+72insCACACACACA;VC=Intron;DM=COL11A1/Collagen;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,CTGTGTGTGTG:14:22:18:0:5,9:159,582:0.00,28.85:0.00,30.91:0.00,-2.06:0.00,1.00:0.00,1.00:0.00,0.79:60,60:29.6,36.0:0,9:0,0:115,62:14,89:25,13:-,NM_080629.2(COL11A1) c.4500+71_4500+72insCACACACACA:-,NOT_FOUND:-,NOT_FOUND 1 103355119 . C . . NT END=103356006;NT GT ./. 1 103355765 rs1241163 A C 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3247,C/0.6753;PC=0.398;Gene=COL11A1/NM_001190709.1/0;CC=c.4239+242T>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4356+242T>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4392+242T>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.4008+242T>G;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:174:19.78:19.78:0.00:1.00:1.00:0.00:60:40.6:0:0:84:67:28:NM_080629.2(COL11A1) c.4392+242T>G,NM_080629.2(COL11A1) c.4392+242T>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 103356061 . C . . NT END=103363680;NT GT ./. 1 103356168 rs1085 A C 78 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.3732,C/0.6268;PC=0.007;Gene=COL11A1/NM_001190709.1/0;CC=c.4186-108T>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4303-108T>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4339-108T>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3955-108T>G;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:1:0:0:21:677:77.66:2.04:75.62:1.00:1.00:1.00:60:35.3:0:0:100:51:20:NM_080629.2(COL11A1) c.4339-108T>G,NM_080629.2(COL11A1) c.4339-108T>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 103363735 . C . . NT END=103364221;NT GT ./. 1 103364330 . C . . NT END=103364496;NT GT ./. 1 103364484 rs201645288 AT A 12 rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=2;PC=0.087;Gene=COL11A1/NM_001190709.1/0;CC=c.4023+12delA;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4140+12delA;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4176+12delA;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3792+12delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:AT,I,A:40:26:2:5:33,2,5:1005,51,161:0.00,2.76,12.07:0.00,0.68,8.79:0.00,2.08,3.27:0.00,0.00,0.76:0.00,0.00,0.92:0.00,0.00,0.92:60,60,70:13.0,7.0,8.4:0,0,0:0,0,0:54,124,40:86,26,109:34,6,15:-,NM_080629.2(COL11A1) c.4176+12delA:-,0.03:-,0.05201 1 103364551 . C . . NT END=103377714;NT GT ./. 1 103377769 . C . . NT END=103379192;NT GT ./. 1 103377968 rs11164636 A C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3085,C/0.6915;Gene=COL11A1/NM_001190709.1/0;CC=c.3916-200T>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.4033-200T>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.4069-200T>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3685-200T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:143:16.66:0.00:16.66:1.00:0.00:1.00:60:51.0:0:0:113:38:23:NM_080629.2(COL11A1) c.4069-200T>G,NM_080629.2(COL11A1) c.4069-200T>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 103379247 . C . . NT END=103379907;NT GT ./. 1 103379918 rs3753841 G A 168 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5034,A/0.4966;PC=1.000;Gene=COL11A1/NM_001190709.1/0;CC=c.3851C>T;ProtCh=p.P1284L;VC=Missense;Gene=COL11A1/NM_001854.3/0;CC=c.3968C>T;ProtCh=p.P1323L;VC=Missense;Gene=COL11A1/NM_080629.2/1;CC=c.4004C>T;ProtCh=p.P1335L;VC=Missense;Gene=COL11A1/NM_080630.3/0;CC=c.3620C>T;ProtCh=p.P1207L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A:44:37:0:0:44:1474:168.38:102.52:65.86:1.00:1.00:1.00:60:40.2:0:0:62:85:22:NM_080629.2(COL11A1) c.4004C>T (p.Pro1335Leu),NM_080629.2(COL11A1) c.4004C>T (p.Pro1335Leu):0.53,0.53:0.451715,0.451715 1 103379962 . C . . NT END=103380259;NT GT ./. 1 103380368 . C . . NT END=103381186;NT GT ./. 1 103380379 rs532651605 T TA 77 idl,rn VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1049;NP=8;PC=0.002;Gene=COL11A1/NM_001190709.1/0;CC=c.3700-13dupT;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3817-13dupT;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3853-13dupT;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3469-13dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA,D:49:28:27:4:1,18,26,4:31,495,803,123:1.73,0.00,77.39,9.18:-0.07,0.00,25.80,3.47:1.80,0.00,51.59,5.71:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:124.0,26.4,12.4,14.0:0,1,1,0:0,0,0,0:82,115,99,103:68,17,51,47:0,24,24,15:-,NM_080629.2(COL11A1) c.3853-13_3853-12insT:-,NOT_FOUND:-,NOT_FOUND 1 103381241 . C . . NT END=103385866;NT GT ./. 1 103385653 rs11801437 G A 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.2865,A/0.7135;Gene=COL11A1/NM_001190709.1/0;CC=c.3645+214C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3762+214C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3798+214C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3414+214C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:315:36.27:36.27:0.00:1.00:1.00:0.00:60:33.9:0:0:29:122:24:NM_080629.2(COL11A1) c.3798+214C>T,NM_080629.2(COL11A1) c.3798+214C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 103385921 . C . . NT END=103387073;NT GT ./. 1 103387128 . C . . NT END=103388891;NT GT ./. 1 103388946 . C . . NT END=103400004;NT GT ./. 1 103400113 . C . . NT END=103400615;NT GT ./. 1 103400314 rs2045819 T C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2867,C/0.7133;Gene=COL11A1/NM_001190709.1/0;CC=c.3376-202A>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3493-202A>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3529-202A>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3145-202A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:3:0:0:6:176:20.42:11.63:8.78:1.00:1.00:1.00:60:56.5:0:0:31:119:10:NM_080629.2(COL11A1) c.3529-202A>G,NM_080629.2(COL11A1) c.3529-202A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 103400399 rs2045818 C T 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.221,T/0.779;Gene=COL11A1/NM_001190709.1/0;CC=c.3375+217G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3492+217G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3528+217G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3144+217G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:6:0:0:9:291:33.39:22.06:11.33:1.00:1.00:1.00:60:78.0:0:0:104:44:18:NM_080629.2(COL11A1) c.3528+217G>A,NM_080629.2(COL11A1) c.3528+217G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 103400491 rs11164641 G A 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1646;PC=0.001;Gene=COL11A1/NM_001190709.1/0;CC=c.3375+125C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3492+125C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3528+125C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3144+125C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:345:40.21:40.21:0.00:1.00:1.00:0.00:60:70.6:0:0:62:88:15:NM_080629.2(COL11A1) c.3528+125C>T,NM_080629.2(COL11A1) c.3528+125C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 103400492 rs35488040 A T 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.221,T/0.7776;DB;DBA=NA;PAF=A/0.221,AT/0.001398;DB;DBA=NA;PAF=A/0.221,AT/0.001398;Gene=COL11A1/NM_001190709.1/0;CC=c.3375+124T>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3492+124T>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3528+124T>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3144+124T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:395:45.22:45.22:0.00:1.00:1.00:0.00:60:70.6:0:0:63:87:15:NM_080629.2(COL11A1) c.3528+124T>A,NM_080629.2(COL11A1) c.3528+124T>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 103400670 . C . . NT END=103404590;NT GT ./. 1 103404323 rs1564140 A G 15 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1392,G/0.8608;PC=0.006;Gene=COL11A1/NM_001190709.1/0;CC=c.3321+268T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3438+268T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3474+268T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3090+268T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:53.8:0:0:7:142:2:NM_080629.2(COL11A1) c.3474+268T>C,NM_080629.2(COL11A1) c.3474+268T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 103404384 rs2126643 T C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3211,C/0.6789;Gene=COL11A1/NM_001190709.1/0;CC=c.3321+207A>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3438+207A>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3474+207A>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3090+207A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:C,T:9:9:0:0:4,5:139,165:13.12,0.00:13.12,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:51.5,15.6:0,0:0,0:63,25:87,125:24,18:NM_080629.2(COL11A1) c.3474+207A>G,-:0.67,-:NOT_FOUND,- 1 103404645 . C . . NT END=103405882;NT GT ./. 1 103405793 rs2126642 G A 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.8401,A/0.1599;Gene=COL11A1/NM_001190709.1/0;CC=c.3267+90C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3384+90C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3420+90C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.3036+90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:41:0:0:24,17:748,528:74.15,0.00:74.15,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.1,3.6:0,0:0,0:55,28:95,123:25,17:NM_080629.2(COL11A1) c.3420+90C>T,-:0.16,-:NOT_FOUND,- 1 103405991 . C . . NT END=103412404;NT GT ./. 1 103409038 rs1463045 C A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1871,A/0.8129;Gene=COL11A1/NM_001190709.1/0;CC=c.3160-3048G>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3277-3048G>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3313-3048G>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2929-3048G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:129:15.25:6.49:8.76:1.00:1.00:1.00:60:35.4:0:0:104:44:16:NM_080629.2(COL11A1) c.3313-3048G>T,NM_080629.2(COL11A1) c.3313-3048G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 103412513 . C . . NT END=103427421;NT GT ./. 1 103427381 rs1012282 A G 66 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.7586,G/0.2414;Gene=COL11A1/NM_001190709.1/0;CC=c.3051+41T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3168+41T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3204+41T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2820+41T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:30:0:0:13,21:444,655:0.00,65.68:0.00,40.84:0.00,24.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,38.1:0,0:0,0:44,46:93,105:30,17:-,NM_080629.2(COL11A1) c.3204+41T>C:-,0.24:-,0.301169 1 103427476 . C . . NT END=103427731;NT GT ./. 1 103427822 . C . . NT END=103428208;NT GT ./. 1 103427994 rs4353117 A T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8912,T/0.1088;PC=0.002;Gene=COL11A1/NM_001190709.1/0;CC=c.2908-173T>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.3025-173T>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.3061-173T>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2677-173T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:13:7:0:0:7,6:213,195:0.00,18.47:0.00,16.27:0.00,2.20:0.00,0.97:0.00,0.98:0.00,0.97:60,60:9.4,65.2:0,0:0,0:100,44:51,95:28,15:-,NM_080629.2(COL11A1) c.3061-173T>A:-,0.11:-,NOT_FOUND 1 103428317 . C . . NT END=103431042;NT GT ./. 1 103428389 rs1841834 G A 115 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.05132,A/0.9487;Gene=COL11A1/NM_001190709.1/0;CC=c.2800-73C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2917-73C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2953-73C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2569-73C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:4:0:0:32:995:114.67:9.64:105.03:1.00:1.00:1.00:60:36.7:0:0:105:46:34:NM_080629.2(COL11A1) c.2953-73C>T,NM_080629.2(COL11A1) c.2953-73C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 103431097 . C . . NT END=103435774;NT GT ./. 1 103435626 rs4013867 G A 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.06729,A/0.9327;DB;DBA=NA;PAF=NA;PC=0.001;Gene=COL11A1/NM_001190709.1/0;CC=c.2745+149C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2862+149C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2898+149C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2514+149C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:313:36.07:36.07:0.00:1.00:1.00:0.00:60:41.4:0:0:36:113:36:NM_080629.2(COL11A1) c.2898+149C>T,NM_080629.2(COL11A1) c.2898+149C>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 103435829 . C . . NT END=103440385;NT GT ./. 1 103436141 rs11164648 A G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8227,G/0.1773;PC=0.002;Gene=COL11A1/NM_001190709.1/0;CC=c.2692-313T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2809-313T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2845-313T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2461-313T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:150:17.36:0.00:17.36:1.00:0.00:1.00:60:48.4:0:0:116:35:11:NM_080629.2(COL11A1) c.2845-313T>C,NM_080629.2(COL11A1) c.2845-313T>C:0.18,0.18:NOT_FOUND,NOT_FOUND 1 103440440 . C . . NT END=103444263;NT GT ./. 1 103444309 . C . . NT END=103444415;NT GT ./. 1 103444470 . C . . NT END=103444615;NT GT ./. 1 103444497 rs1903787 A G 118 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.7159,G/0.2841;Gene=COL11A1/NM_001190709.1/0;CC=c.2539-28T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2656-28T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2692-28T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2308-28T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:38:0:0:38,39:1174,1226:0.00,117.93:0.00,34.59:0.00,83.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,37.6:0,0:0,0:82,94:68,54:38,29:-,NM_080629.2(COL11A1) c.2692-28T>C:-,0.27:-,0.340151 1 103444661 . C . . NT END=103444937;NT GT ./. 1 103444679 rs11164649 T G 95 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.3708,G/0.6292;PC=0.242;Gene=COL11A1/NM_001190709.1/0;CC=c.2494-19A>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2611-19A>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2647-19A>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2263-19A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:62:33:0:0:31,31:988,1027:94.87,0.00:26.21,0.00:68.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,4.3:0,0:0,0:77,99:65,49:21,19:NM_080629.2(COL11A1) c.2647-19A>C,-:0.64,-:0.551668,- 1 103444992 . C . . NT END=103449693;NT GT ./. 1 103445223 rs2622846 G A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7596,A/0.2404;Gene=COL11A1/NM_001190709.1/0;CC=c.2440-232C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2557-232C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2593-232C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2209-232C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:0:0:0:3,2:93,68:9.27,0.00:0.00,0.00:9.27,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:31.0,15.5:0,0:0,0:123,119:28,31:25,8:NM_080629.2(COL11A1) c.2593-232C>T,-:0.24,-:NOT_FOUND,- 1 103449598 rs2615978 G C 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.05172,C/0.9483;Gene=COL11A1/NM_001190709.1/0;CC=c.2439+96C>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2556+96C>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2592+96C>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2208+96C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:398:45.96:41.93:4.03:1.00:1.00:1.00:60:33.4:0:0:31:119:30:NM_080629.2(COL11A1) c.2592+96C>G,NM_080629.2(COL11A1) c.2592+96C>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 103449748 . C . . NT END=103453188;NT GT ./. 1 103453297 . C . . NT END=103455073;NT GT ./. 1 103453379 rs2622858 G C 53 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.8053,C/0.1947;PC=0.002;Gene=COL11A1/NM_001190709.1/0;CC=c.2278-83C>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2395-83C>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2431-83C>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.2047-83C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:30:3:0:0:16,14:547,450:53.34,0.00:1.36,0.00:51.98,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:34.2,12.5:0,0:0,0:89,132:61,18:49,8:NM_080629.2(COL11A1) c.2431-83C>G,-:0.18,-:NOT_FOUND,- 1 103455128 . C . . NT END=103461419;NT GT ./. 1 103455217 rs1463034 C T 57 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.1929,T/0.8071;Gene=COL11A1/NM_001190709.1/0;CC=c.2224-90G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2341-90G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2377-90G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1993-90G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:1:0:0:15:498:56.95:1.94:55.01:1.00:1.00:1.00:60:35.3:0:0:119:32:21:NM_080629.2(COL11A1) c.2377-90G>A,NM_080629.2(COL11A1) c.2377-90G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 103461465 . C . . NT END=103461544;NT GT ./. 1 103461508 rs2622867 T A 157 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.07608,A/0.9239;Gene=COL11A1/NM_001190709.1/0;CC=c.2178+37A>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2295+37A>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2331+37A>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1947+37A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:33:0:0:41:1377:157.23:106.92:50.31:1.00:1.00:1.00:60:38.6:0:0:77:70:25:NM_080629.2(COL11A1) c.2331+37A>T,NM_080629.2(COL11A1) c.2331+37A>T:0.92,0.92:0.90548,0.90548 1 103461599 . C . . NT END=103462635;NT GT ./. 1 103462681 . C . . NT END=103463865;NT GT ./. 1 103463920 . C . . NT END=103467480;NT GT ./. 1 103463928 . G GA 14 rn VT=INS;SST=Single;DP=33;NP=2;Gene=COL11A1/NM_001190709.1/0;CC=c.2026-10_2026-9insT;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2143-10_2143-9insT;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2179-10_2179-9insT;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1795-10_1795-9insT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:G,GA:33:22:6:0:27,6:853,183:0.00,14.38:0.00,3.80:0.00,10.58:0.00,0.89:0.00,0.96:0.00,0.97:60,60:28.9,38.0:0,0:0,0:102,84:49,66:25,31:-,NM_080629.2(COL11A1) c.2179-10_2179-9insT:-,NOT_FOUND:-,NOT_FOUND 1 103463976 rs2622870 G T 101 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.1506,T/0.8494;Gene=COL11A1/NM_001190709.1/0;CC=c.2026-57C>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2143-57C>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2179-57C>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1795-57C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:11:0:0:27:885:101.33:27.19:74.14:1.00:1.00:1.00:60:49.7:0:0:104:47:28:NM_080629.2(COL11A1) c.2179-57C>A,NM_080629.2(COL11A1) c.2179-57C>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 103464061 rs10874672 T A 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1927,A/0.8073;Gene=COL11A1/NM_001190709.1/0;CC=c.2026-142A>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2143-142A>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2179-142A>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1795-142A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:399:45.62:0.00:45.62:1.00:0.00:1.00:60:57.2:0:0:98:53:26:NM_080629.2(COL11A1) c.2179-142A>T,NM_080629.2(COL11A1) c.2179-142A>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 103467526 . C . . NT END=103467983;NT GT ./. 1 103467596 rs12135531 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.9273,G/0.07268;PC=0.163;Gene=COL11A1/NM_001190709.1/0;CC=c.1981-71T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2098-71T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2134-71T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1750-71T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:16:1:0:0:6,10:162,297:0.00,29.84:0.00,1.84:0.00,28.00:0.00,1.00:0.00,0.75:0.00,1.00:60,60:29.8,72.8:0,0:0,0:112,93:37,58:29,37:-,NM_080629.2(COL11A1) c.2134-71T>C:-,0.08:-,0.111744 1 103467615 rs2929162 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.07588,T/0.9241;Gene=COL11A1/NM_001190709.1/0;CC=c.1981-90G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.2098-90G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2134-90G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1750-90G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T,I:13:0:1:0:12,1:366,16:41.90,1.00:0.00,0.00:41.90,1.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:60.5,126.0:0,1:0,0:112,70:39,81:30,0:NM_080629.2(COL11A1) c.2134-90G>A,NM_080629.2(COL11A1) c.2134-90G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 103468038 . C . . NT END=103468302;NT GT ./. 1 103468348 . C . . NT END=103468770;NT GT ./. 1 103468609 rs2251895 A G 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.07568,G/0.9243;Gene=COL11A1/NM_001190709.1/0;CC=c.1881+162T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1998+162T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2034+162T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1650+162T>C;VC=Intron;DM=COL11A1/Collagen;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:12:0:0:14:413:47.88:40.13:7.75:1.00:1.00:1.00:60:42.6:0:0:28:121:14:NM_080629.2(COL11A1) c.2034+162T>C,NM_080629.2(COL11A1) c.2034+162T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 103468767 rs12136577 A T 66 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.9273,T/0.07268;PC=0.470;Gene=COL11A1/NM_001190709.1/0;CC=c.1881+4T>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1998+4T>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.2034+4T>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1650+4T>A;VC=Intron;DM=COL11A1/Collagen;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:47:36:0:0:26,21:867,704:0.00,66.39:0.00,37.72:0.00,28.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,40.0:0,0:0,0:59,78:89,72:26,24:-,NM_080629.2(COL11A1) c.2034+4T>A:-,0.08:-,0.106028 1 103468825 . C . . NT END=103469999;NT GT ./. 1 103468855 rs370445089 T TA 14 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=21;Gene=COL11A1/NM_001190709.1/0;CC=c.1828-32dupT;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1945-32dupT;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1981-32dupT;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1597-32dupT;VC=Intron;DM=COL11A1/Collagen;DM=COL11A1/Collagen;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TA,D:40:18:6:6:29,6,5:890,182,193:0.00,14.07,12.48:0.00,2.63,3.72:0.00,11.44,8.77:0.00,0.87,0.00:0.00,0.88,0.00:0.00,0.98,0.00:60,60,60:18.9,10.7,22.8:0,0,1:0,0,0:100,82,113:50,68,37:20,13,17:-,NM_080629.2(COL11A1) c.1981-32_1981-31insT:-,NOT_FOUND:-,NOT_FOUND 1 103470045 . C . . NT END=103470163;NT GT ./. 1 103470218 . C . . NT END=103471393;NT GT ./. 1 103471448 . C . . NT END=103471623;NT GT ./. 1 103471456 rs71752747 CCAT C 218 idl,rn VT=DEL;SST=Single;DP=96;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=in-clinvar;PAF=NA;NP=2261;Gene=COL11A1/NM_001190709.1/0;CC=c.1675-12_1675-10delATG;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1792-12_1792-10delATG;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1828-12_1828-10delATG;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1444-12_1444-10delATG;VC=Intron;DM=COL11A1/Collagen;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCAT,C:93:70:0:73:24,69:799,2182:0.00,217.68:0.00,112.62:0.00,105.06:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.7,6.4:0,3:0,0:130,69:19,76:7,21:-,NM_080629.2(COL11A1) c.1828-12_1828-10delATG:-,NOT_FOUND:-,NOT_FOUND 1 103471678 . C . . NT END=103471817;NT GT ./. 1 103471734 rs71592255 A AAAATAAATAAAT 23 nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=2;PC=0.006;Gene=COL11A1/NM_001190709.1/0;CC=c.1621-58_1621-57insATTTATTTATTT;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1738-58_1738-57insATTTATTTATTT;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1774-58_1774-57insATTTATTTATTT;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1390-58_1390-57insATTTATTTATTT;VC=Intron;DM=COL11A1/Collagen;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAAATAAATAAAT:49:29:9:0:40,9:1277,290:0.00,23.15:0.00,20.80:0.00,2.35:0.00,0.98:0.00,0.99:0.00,0.99:60,60:8.8,8.1:0,0:0,0:104,48:32,103:33,14:-,NM_080629.2(COL11A1) c.1774-58_1774-57insATTTATTTATTT:-,NOT_FOUND:-,NOT_FOUND 1 103471872 . C . . NT END=103474018;NT GT ./. 1 103474073 . C . . NT END=103477968;NT GT ./. 1 103478026 . C . . NT END=103480066;NT GT ./. 1 103480151 . C . . NT END=103481223;NT GT ./. 1 103480387 rs12140023 T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.9373,C/0.0627;Gene=COL11A1/NM_001190709.1/0;CC=c.1372-237A>G;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1489-237A>G;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1525-237A>G;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1141-237A>G;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:C,T:10:0:0:0:4,6:118,168:10.78,0.00:0.00,0.00:10.78,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:42.0,38.7:0,0:0,0:72,90:78,60:39,29:NM_080629.2(COL11A1) c.1525-237A>G,-:0.07,-:NOT_FOUND,- 1 103481299 . C . . NT END=103483375;NT GT ./. 1 103483358 rs17461252 T A 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.9698,A/0.03015;Gene=COL11A1/NM_001190709.1/0;CC=c.1296+18A>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1413+18A>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1449+18A>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1065+18A>T;VC=Intron;DM=COL11A1/Collagen;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:20:0:0:13,12:433,362:41.99,0.00:18.23,0.00:23.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,18.0:0,0:0,0:71,68:80,78:45,34:NM_080629.2(COL11A1) c.1449+18A>T,-:0.03,-:0.04052,- 1 103483439 . C . . NT END=103484373;NT GT ./. 1 103483514 rs945748 C T 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.361,T/0.639;Gene=COL11A1/NM_001190709.1/0;CC=c.1234-76G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1351-76G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1387-76G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.1003-76G>A;VC=Intron;DM=COL11A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,T:10:1:0:0:5,5:153,168:0.00,16.18:0.00,-0.15:0.00,16.33:0.00,0.95:0.00,0.67:0.00,0.95:60,60:17.2,47.4:0,0:0,0:122,87:29,64:20,25:-,NM_080629.2(COL11A1) c.1387-76G>A:-,0.65:-,NOT_FOUND 1 103484416 . C . . NT END=103487262;NT GT ./. 1 103487326 . C . . NT END=103488297;NT GT ./. 1 103487394 rs532376977 CT C 53 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2378;PC=0.142;Gene=COL11A1/NM_001190709.1/0;CC=c.1129-70delA;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1246-70delA;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1282-70delA;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.898-70delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:25:8:0:17:8,17:258,516:0.00,52.90:0.00,9.43:0.00,43.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,5.6:0,0:0,0:138,106:12,43:4,20:-,NM_080629.2(COL11A1) c.1282-70delA:-,NOT_FOUND:-,NOT_FOUND 1 103487569 rs552424084 A AT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3608,AT/0.6392;DB;DBA=NA;PAF=A/0.3608,AT/0.6392;DB;DBA=NA;PAF=A/0.3608,AT/0.6392,ATTTTT/.;NP=2;PC=0.027;Gene=COL11A1/NM_001190709.1/0;CC=c.1129-245_1129-244insA;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.1246-245_1246-244insA;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.1282-245_1282-244insA;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.898-245_898-244insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,AT,D:4:0:2:1:1,2,1:30,67,30:0.00,6.75,2.75:0.00,0.00,0.00:0.00,6.75,2.75:0.00,0.51,0.00:0.00,0.00,0.00:0.00,0.51,0.00:60,60,60:7.0,0.0,0.0:0,0,0:0,0,0:148,99,16:3,51,135:0,7,0:-,NM_080629.2(COL11A1) c.1282-245_1282-244insA:-,NOT_FOUND:-,NOT_FOUND 1 103488553 . C . . NT END=103491076;NT GT ./. 1 103491170 . C . . NT END=103491355;NT GT ./. 1 103491509 . C . . NT END=103491771;NT GT ./. 1 103491889 . C . . NT END=103496671;NT GT ./. 1 103496620 rs7523441 G T 207 nt VT=SNV;PN=C;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.05691,T/0.9431;Gene=COL11A1/NM_001190709.1/0;CC=c.780+52C>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.780+52C>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.780+52C>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.780+52C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:T:55:52:0:0:55:1807:206.87:177.24:29.63:1.00:1.00:1.00:60:40.1:0:0:52:97:31:NM_080629.2(COL11A1) c.780+52C>A,NM_080629.2(COL11A1) c.780+52C>A:0.94,0.94:0.925358,0.925358 1 103496801 . C . . NT END=103540173;NT GT ./. 1 103496805 rs539148347 GA G 151 idl,rn VT=DEL;SST=Single;DP=80;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=966;Gene=COL11A1/NM_001190709.1/0;CC=c.652-6delT;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.652-6delT;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.652-6delT;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.652-6delT;VC=Intron;DM=COL11A1/Laminin_G_2;DM=COL11A1/Laminin_G_2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:77:38:1:52:1,26,1,49:8,763,25,1583:-0.06,0.00,0.96,151.05:-0.04,0.00,-0.04,53.11:-0.02,0.00,1.00,97.94:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:124.0,15.7,73.0,17.4:0,5,0,3:0,0,0,0:62,100,81,74:88,30,65,70:0,45,0,24:-,NM_080629.2(COL11A1) c.652-6delT:-,NOT_FOUND:-,NOT_FOUND 1 103502808 rs113386480 TTGTG T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=34;PC=0.005;Gene=COL11A1/NM_001190709.1/0;CC=c.652-6012_652-6009delCACA;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.652-6012_652-6009delCACA;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.652-6012_652-6009delCACA;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.652-6012_652-6009delCACA;VC=Intron;DM=COL11A1/Laminin_G_2;DM=COL11A1/Laminin_G_2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TTGTG,T:4:2:0:2:2,2:66,68:0.00,6.55:0.00,1.64:0.00,4.91:0.00,0.51:0.00,0.79:0.00,0.51:60,60:0.0,0.0:0,0:0,0:99,57:46,92:4,15:-,NM_080629.2(COL11A1) c.652-6012_652-6009delCACA:-,NOT_FOUND:-,NOT_FOUND 1 103539981 rs7522293 A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3349,G/0.6651;Gene=COL11A1/NM_001190709.1/0;CC=c.651+193T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.651+193T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.651+193T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.651+193T>C;VC=Intron;DM=COL11A1/Laminin_G_2;DM=COL11A1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,G:7:7:0:0:4,3:130,85:0.00,7.85:0.00,7.85:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,47.3:0,0:0,0:40,15:110,136:11,14:-,NM_080629.2(COL11A1) c.651+193T>C:-,0.66:-,NOT_FOUND 1 103540337 . C . . NT END=103544213;NT GT ./. 1 103540489 rs34822172 A G 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8454,G/0.1546;PC=0.001;Gene=COL11A1/NM_001190709.1/0;CC=c.489-153T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.489-153T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.489-153T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.489-153T>C;VC=Intron;DM=COL11A1/Laminin_G_2;DM=COL11A1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:0:0:0:7,7:233,229:0.00,22.02:0.00,0.00:0.00,22.02:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.1,39.0:0,0:0,0:59,118:92,33:42,28:-,NM_080629.2(COL11A1) c.489-153T>C:-,0.15:-,NOT_FOUND 1 103544191 rs6668897 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.9024,T/0.09764;Gene=COL11A1/NM_001190709.1/0;CC=c.488+23G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.488+23G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.488+23G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.488+23G>A;VC=Intron;DM=COL11A1/Laminin_G_2;DM=COL11A1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:30:0:0:12,22:369,673:0.00,68.13:0.00,53.50:0.00,14.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,37.7:0,0:0,0:17,50:129,94:14,26:-,NM_080629.2(COL11A1) c.488+23G>A:-,0.09:-,0.136825 1 103544428 . C . . NT END=103548360;NT GT ./. 1 103544434 rs12136865 A G 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.9024,G/0.09764;PC=0.090;Gene=COL11A1/NM_001190709.1/0;CC=c.275-7T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.275-7T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.275-7T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.275-7T>C;VC=Intron;DM=COL11A1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:9:0:0:12,16:387,518:0.00,51.14:0.00,9.63:0.00,41.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,42.6:0,0:0,0:92,116:57,27:33,26:-,NM_080629.2(COL11A1) c.275-7T>C:-,0.09:-,0.131579 1 103548211 rs1337184 A T 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.884,T/0.116;Gene=COL11A1/NM_001190709.1/0;CC=c.274+150T>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.274+150T>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.274+150T>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.274+150T>A;VC=Intron;DM=COL11A1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:20:0:0:10,10:306,296:0.00,28.30:0.00,28.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:55.5,52.5:0,0:0,0:54,49:88,102:32,7:-,NM_080629.2(COL11A1) c.274+150T>A:-,0.11:-,NOT_FOUND 1 103548319 rs11164662 C G 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.4237,G/0.5763;Gene=COL11A1/NM_001190709.1/0;CC=c.274+42G>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.274+42G>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.274+42G>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.274+42G>C;VC=Intron;DM=COL11A1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:40:37:0:0:23,17:746,582:0.00,54.48:0.00,46.60:0.00,7.88:0.00,1.00:0.00,1.00:0.00,0.99:60,60:11.3,41.9:0,0:0,0:68,48:83,103:37,13:-,NM_080629.2(COL11A1) c.274+42G>C:-,0.58:-,0.456246 1 103548529 . C . . NT END=103573628;NT GT ./. 1 103548677 rs61817086 A G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8866,G/0.1134;Gene=COL11A1/NM_001190709.1/0;CC=c.107-149T>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.107-149T>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.107-149T>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.107-149T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,G:12:0:0:0:8,4:254,129:0.00,11.50:0.00,0.00:0.00,11.50:0.00,0.80:0.00,0.00:0.00,0.80:60,60:7.5,32.2:0,0:0,0:89,73:61,77:27,16:-,NM_080629.2(COL11A1) c.107-149T>C:-,0.11:-,NOT_FOUND 1 103548804 rs28504475 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=7;Gene=COL11A1/NM_001190709.1/0;CC=c.107-276G>C;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.107-276G>C;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.107-276G>C;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.107-276G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,G,I,D:6:5:2:1:2,2,1,1:69,70,53,35:0.00,6.57,2.90,3.00:0.00,5.13,-0.80,3.10:0.00,1.45,3.70,-0.10:0.00,0.39,0.00,0.00:0.00,0.80,0.00,0.00:0.00,0.80,0.00,0.00:60,60,60,60:42.0,77.0,66.0,0.0:0,0,1,0:0,0,0,0:78,92,38,95:29,44,78,55:44,14,6,0:-,NM_080629.2(COL11A1) c.107-276G>C:-,NOT_FOUND:-,NOT_FOUND 1 103548823 rs3058875 C T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1372,T/0.8628;DB;DBA=NA;PAF=NA;Gene=COL11A1/NM_001190709.1/0;CC=c.107-295G>A;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.107-295G>A;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.107-295G>A;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.107-295G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:6:4:0:0:1,5:35,169:0.00,18.11:0.00,4.97:0.00,13.14:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,50.2:0,0:0,0:110,67:40,25:0,14:-,NM_080629.2(COL11A1) c.107-295G>A:-,0.81:-,NOT_FOUND 1 103573547 rs6691654 G A 76 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.1284,A/0.8716;Gene=COL11A1/NM_001190709.1/0;CC=c.106+82C>T;VC=Intron;Gene=COL11A1/NM_001854.3/0;CC=c.106+82C>T;VC=Intron;Gene=COL11A1/NM_080629.2/1;CC=c.106+82C>T;VC=Intron;Gene=COL11A1/NM_080630.3/0;CC=c.106+82C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:24:0:0:24:645:75.83:72.46:3.38:1.00:1.00:1.00:60:62.2:0:0:35:111:23:NM_080629.2(COL11A1) c.106+82C>T,NM_080629.2(COL11A1) c.106+82C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 1 103573735 . C . . NT END=104068692;NT GT ./. 1 103738697 rs66487870 A ATGTGTGTG 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;NP=5;NP=90;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATGTGTGTG:4:5:4:0:1,3:33,119:0.00,8.86:0.00,8.86:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.87:60,60:86.0,28.0:0,1:0,0:46,21:105,129:0,6:-,chr1 g.103738697_103738698insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 104068885 . G . . NT END=104070316;NT GT ./. 1 104070365 . G . . NT END=104076360;NT GT ./. 1 104076462 rs6697444 C T 23 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.398,T/0.602;Gene=RNPC3/NM_017619.3/1;CC=c.342C>T;ProtCh=p.G114=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:24:12:0:0:1,14,9:20,468,250:0.87,0.00,22.58:-0.11,0.00,8.03:0.98,0.00,14.56:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:38.0,11.8,61.2:1,5,0:0,0,0:33,105,92:104,33,51:0,25,35:-,NM_017619.3(RNPC3) c.342C>T (p.(=)):-,0.58:-,0.646801 1 104076466 . G GA 13 rn VT=INS;SST=Single;DP=23;NP=2;PC=1.000;Gene=RNPC3/NM_017619.3/1;CC=c.358dupA;ProtCh=p.R120Kfs*3;VC=FrameShiftIns;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G,T,GA,D:23:11:5:1:2,14,1,5,1:21,490,8,150,24:0.56,0.00,-0.05,12.58,1.25:-0.32,0.00,-0.15,0.76,-0.15:0.87,0.00,0.10,11.83,1.41:0.00,0.00,0.00,0.84,0.00:0.00,0.00,0.00,0.89,0.00:0.00,0.00,0.00,0.96,0.00:60,60,60,60,60:78.0,28.2,46.0,25.4,9.0:0,0,0,0,0:0,0,0,0,0:50,124,133,82,43:96,24,18,53,108:45,19,0,25,0:-,NM_017619.3(RNPC3) c.358dupA (p.Arg120Lysfs*3):-,NOT_FOUND:-,NOT_FOUND 1 104076480 . G . . NT END=104077395;NT GT ./. 1 104076495 rs6702220 A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3558,G/0.6442;PC=0.150;Gene=RNPC3/NM_017619.3/1;CC=c.359+16A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G:15:3:0:0:12,3:357,106:0.00,8.78:0.00,3.23:0.00,5.55:0.00,0.55:0.00,0.53:0.00,0.90:60,60:27.0,80.0:0,0:0,0:70,119:67,32:22,0:-,NM_017619.3(RNPC3) c.359+16A>G:-,0.61:-,NOT_FOUND 1 104077480 . G . . NT END=104077951;NT GT ./. 1 104078064 . G . . NT END=104078747;NT GT ./. 1 104078817 . G . . NT END=104079963;NT GT ./. 1 104078989 rs10881214 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.3948,A/0.6052;PC=0.010;Gene=RNPC3/NM_017619.3/1;CC=c.624+173G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:10:0:0:0:5,5:152,123:14.59,0.00:0.00,0.00:14.59,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:30.4,34.0:0,0:0,0:145,119:5,31:4,22:NM_017619.3(RNPC3) c.624+173G>A,-:0.58,-:NOT_FOUND,- 1 104079853 . TA T 8 idl,rn VT=DEL;SST=Single;DP=12;NP=9;PC=0.177;Gene=RNPC3/NM_017619.3/1;CC=c.625-98delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TA,I,T:10:10:4:3:5,2,3:115,128,89:0.00,5.51,7.91:0.00,5.66,8.15:0.00,-0.15,-0.24:0.00,0.00,0.59:0.00,0.00,0.91:0.00,0.00,0.53:60,60,60:30.0,58.5,27.3:0,2,0:0,0,0:11,25,50:140,126,101:7,16,5:-,NM_017619.3(RNPC3) c.625-110delA:-,NOT_FOUND:-,NOT_FOUND 1 104080107 . G . . NT END=104083971;NT GT ./. 1 104080169 rs10736038 G C 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.398,C/0.602;PC=0.003;Gene=RNPC3/NM_017619.3/1;CC=c.767+63G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:4:0:0:11,12:295,409:27.76,0.00:6.77,0.00:20.99,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:51.9,3.8:0,0:0,0:119,119:32,31:20,22:NM_017619.3(RNPC3) c.767+63G>C,-:0.58,-:NOT_FOUND,- 1 104084098 . G . . NT END=104085917;NT GT ./. 1 104084226 rs10881232 A G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3946,G/0.6054;PC=0.002;Gene=RNPC3/NM_017619.3/1;CC=c.893+129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:1:0:0:9,7:273,244:0.00,22.98:0.00,-0.25:0.00,23.23:0.00,0.98:0.00,0.62:0.00,1.00:60,60:22.2,43.6:0,0:0,0:109,83:42,67:11,10:-,NM_017619.3(RNPC3) c.893+129A>G:-,0.58:-,NOT_FOUND 1 104086070 . G . . NT END=104087562;NT GT ./. 1 104086145 rs10785725 A G 89 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=853;Gene=RNPC3/NM_017619.3/1;CC=c.1045+76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:5:0:0:24:780:89.44:10.63:78.81:1.00:1.00:1.00:60:41.1:0:0:99:51:37:NM_017619.3(RNPC3) c.1045+76A>G,NM_017619.3(RNPC3) c.1045+76A>G:1,1:NOT_FOUND,NOT_FOUND 1 104087725 . G . . NT END=104088869;NT GT ./. 1 104088965 . G . . NT END=104089598;NT GT ./. 1 104089658 . G . . NT END=104093562;NT GT ./. 1 104089773 rs7529928 C G 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3548,G/0.6452,T/.;Gene=RNPC3/NM_017619.3/1;CC=c.1361+116C>G;VC=Intron;DM=RNPC3/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,G:11:0:0:0:7,4:199,126:0.00,11.38:0.00,0.00:0.00,11.38:0.00,0.82:0.00,0.00:0.00,0.82:60,60:14.7,31.5:0,0:0,0:81,62:69,88:47,48:-,NM_017619.3(RNPC3) c.1361+116C>G:-,0.61:-,NOT_FOUND 1 104093696 . G . . NT END=104094342;NT GT ./. 1 104094403 . A . . NT END=104114224;NT GT ./. 1 104094507 . CT C 6 idl,rn VT=DEL;SST=Single;DP=15;NP=5;PC=0.047;Gene=RNPC3/NM_017619.3/1;CC=c.*12+108delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:CT,I,C:13:2:4:3:8,2,3:195,118,79:0.00,4.71,6.47:0.00,-0.06,-0.10:0.00,4.78,6.57:0.00,0.00,0.55:0.00,0.00,0.47:0.00,0.00,0.55:60,60,60:25.8,11.0,27.0:0,2,0:0,0,0:124,49,125:26,101,26:14,7,1:-,NM_017619.3(RNPC3) c.*12+94delT:-,NOT_FOUND:-,NOT_FOUND 1 104112945 rs75516768 G A 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9846,A/0.01538;PC=1.000;Gene=AMY2B/NM_020978.4/1;CC=c.-46-1234G>A;VC=Intron;Gene=ACTG1P4/NR_024438.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G:9:7:0:0:5,4:171,111:16.80,0.00:11.72,0.00:5.08,0.00:0.96,0.00:0.99,0.00:0.92,0.00:60,60:34.2,8.8:0,0:0,0:34,5:117,144:0,1:NR_024438.2(ACTG1P4) n.920G>A,-:0.02,-:NOT_FOUND,- 1 104114394 . T . . NT END=104114731;NT GT ./. 1 104114880 . T . . NT END=104115684;NT GT ./. 1 104115884 . T . . NT END=104116329;NT GT ./. 1 104116562 . T . . NT END=104116881;NT GT ./. 1 104117017 . T . . NT END=104117844;NT GT ./. 1 104117682 rs71874824 GTA G 26 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=29;PC=0.004;Gene=AMY2B/NM_020978.4/1;CC=c.879-139_879-138delAT;VC=Intron;DM=AMY2B/Alpha-amylase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:GTA,I,G:16:15:1:10:6,1,9:187,33,289:0.00,2.39,26.15:0.00,2.42,23.16:0.00,-0.03,2.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.82:60,60,60:5.5,8.0,38.9:0,0,1:0,0,0:83,33,69:68,117,80:44,0,18:-,NM_020978.3(AMY2B) c.879-162_879-161delTA:-,NOT_FOUND:-,NOT_FOUND 1 104117969 . T . . NT END=104118062;NT GT ./. 1 104118164 . T . . NT END=104120111;NT GT ./. 1 104119814 rs7537183 T C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3554,C/0.6446;Gene=AMY2B/NM_020978.4/1;CC=c.1102-298T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,T:6:6:0:0:3,3:92,91:8.82,0.00:8.82,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:70.0,4.0:0,0:0,0:16,36:135,115:15,26:NM_020978.3(AMY2B) c.1102-298T>C,-:0.61,-:NOT_FOUND,- 1 104120232 . T . . NT END=104120341;NT GT ./. 1 104120469 . T . . NT END=104121932;NT GT ./. 1 104122124 . a . . NT END=104160062;NT GT ./. 1 104122394 rs78811372 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9808,A/0.01917;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:6:0:0:0:3,3:99,99:9.52,0.00:0.00,0.00:9.52,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:52.3,4.0:0,0:0,0:117,116:34,35:17,16:chr1 g.104122393G>A (intergenic),-:0.02,-:NOT_FOUND,- 1 104160231 . G . . NT END=104160575;NT GT ./. 1 104160723 . G . . NT END=104161532;NT GT ./. 1 104161731 . G . . NT END=104162175;NT GT ./. 1 104162407 . G . . NT END=104163172;NT GT ./. 1 104163307 . G . . NT END=104164198;NT GT ./. 1 104164322 . G . . NT END=104164415;NT GT ./. 1 104164516 . G . . NT END=104166487;NT GT ./. 1 104166496 rs1140401 T C 178 lc VT=SNV;PN=A;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=NA;NP=672;PC=1.000;Gene=AMY2A/NM_000699.3/1;CC=c.1110T>C;ProtCh=p.N370=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:143:124:0:0:60,83:1921,2698:178.46,0.00:144.20,0.00:34.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:36.4,9.5:1,0:0,0:54,37:96,110:19,17:NM_000699.2(AMY2A) c.1110T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 104166607 . G . . NT END=104166717;NT GT ./. 1 104166844 . G . . NT END=104168178;NT GT ./. 1 104168369 . A . . NT END=104198952;NT GT ./. 1 104199121 . G . . NT END=104199465;NT GT ./. 1 104199613 . G . . NT END=104200415;NT GT ./. 1 104200614 . G . . NT END=104201061;NT GT ./. 1 104201293 . G . . NT END=104202031;NT GT ./. 1 104202166 . G . . NT END=104202981;NT GT ./. 1 104203105 . G . . NT END=104203198;NT GT ./. 1 104203299 . G . . NT END=104205278;NT GT ./. 1 104205398 . G . . NT END=104205507;NT GT ./. 1 104205634 . G . . NT END=104206952;NT GT ./. 1 104207143 . A . . NT END=104230070;NT GT ./. 1 104230261 . C . . NT END=104231579;NT GT ./. 1 104231706 . C . . NT END=104231815;NT GT ./. 1 104231935 . C . . NT END=104233915;NT GT ./. 1 104234016 . C . . NT END=104234109;NT GT ./. 1 104234233 . C . . NT END=104235048;NT GT ./. 1 104235183 . C . . NT END=104235921;NT GT ./. 1 104236153 . C . . NT END=104236600;NT GT ./. 1 104236799 . C . . NT END=104237601;NT GT ./. 1 104237749 . C . . NT END=104238093;NT GT ./. 1 104238262 . T . . NT END=104292440;NT GT ./. 1 104292799 . G . . NT END=104292891;NT GT ./. 1 104293260 . G . . NT END=104293478;NT GT ./. 1 104293752 . G . . NT END=104294428;NT GT ./. 1 104294753 . G . . NT END=104294971;NT GT ./. 1 104295432 . G . . NT END=104296044;NT GT ./. 1 104296305 . G . . NT END=104296645;NT GT ./. 1 104296868 . T . . NT END=104296994;NT GT ./. 1 104297118 . T . . NT END=104297120;NT GT ./. 1 104297311 . T . . NT END=104297336;NT GT ./. 1 104297437 . G . . NT END=104299290;NT GT ./. 1 104299410 . A . . NT END=104299416;NT GT ./. 1 104299772 . G . . NT END=104300964;NT GT ./. 1 104301281 . A . . NT END=107599337;NT GT ./. 1 104470005 rs7550463 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04413,C/0.9559;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:113:13.20:3.68:9.53:1.00:1.00:1.00:60:63.0:0:0:75:75:43:chr1 g.104470004T>C (intergenic),chr1 g.104470004T>C (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 1 104615494 rs527593233 G GA 7 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.995;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:G,GA:28:28:3:0:25,3:794,94:0.00,6.69:0.00,6.69:0.00,0.00:0.00,0.44:0.00,0.44:0.00,0.00:60,60:46.2,40.3:0,0:0,0:46,66:105,85:32,8:-,NR_033990.1(LOC100129138) n.-151_-150insA:-,NOT_FOUND:-,NOT_FOUND 1 104615505 rs12046406 C A 94 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.737,A/0.263 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:26:0:2:26:819:94.25:94.25:0.00:1.00:1.00:0.00:60:49.9:0:0:55:95:31:NR_033990.1(LOC100129138) n.-140C>A,NR_033990.1(LOC100129138) n.-140C>A:0.26,0.26:NOT_FOUND,NOT_FOUND 1 104615875 rs3811505 A G 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.7412,G/0.2588;PC=0.013;Gene=LOC100129138/NR_033990.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:8:0:0:14:394:46.03:27.21:18.82:1.00:1.00:1.00:60:66.2:1:0:79:71:48:NR_033990.1(LOC100129138) n.231A>G,NR_033990.1(LOC100129138) n.231A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 1 104615959 rs3811506 A G 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7234,G/0.2766;PC=0.009;Gene=LOC100129138/NR_033990.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:G:27:23:0:0:27:755:88.15:62.46:25.69:1.00:1.00:1.00:60:46.9:0:0:42:106:23:NR_033990.1(LOC100129138) n.315A>G,NR_033990.1(LOC100129138) n.315A>G:0.28,0.28:NOT_FOUND,NOT_FOUND 1 104616337 rs6664203 A G 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3644,G/0.6356;PC=0.024;Gene=LOC100129138/NR_033990.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:11:0:0:25:778:89.65:36.27:53.37:1.00:1.00:1.00:60:38.5:0:0:77:74:37:NR_033990.1(LOC100129138) n.693A>G,NR_033990.1(LOC100129138) n.693A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 1 104616559 rs6698497 G A 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3652,A/0.6348;PC=0.015;Gene=LOC100129138/NR_033990.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:11:0:0:28:975:110.86:27.59:83.27:1.00:1.00:1.00:60:36.6:0:0:114:37:28:NR_033990.1(LOC100129138) n.882+33G>A,NR_033990.1(LOC100129138) n.882+33G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 104616766 rs71575204 GA G 16 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GA/0.6773,G/0.3227;NP=268;PC=0.002;Gene=LOC100129138/NR_033990.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:GA,G:6:0:0:5:1,5:32,148:0.00,16.01:0.00,0.00:0.00,16.01:0.00,0.99:0.00,0.00:0.00,0.99:60,70:0.0,38.8:0,0:0,0:149,81:1,66:0,46:-,NR_033990.1(LOC100129138) n.882+241delA:-,0.32:-,NOT_FOUND 1 104802446 rs61626715 GTGTT G 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GTGTT/0.05292,G/0.9471;DB;DBA=NA;PAF=GTGTT/0.05292,G/0.9471;NP=74;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GTGTT,G:4:3:0:3:1,3:35,99:0.00,10.35:0.00,7.30:0.00,3.05:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,31.0:1,0:0,0:102,31:49,101:0,11:-,chr1 g.104802447_104802450delTGTT (intergenic):-,0.95:-,NOT_FOUND 1 104813896 rs71076519 TACACAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=68;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:TACACAC,T:4:4:0:2:2,2:67,66:0.00,6.35:0.00,4.76:0.00,1.59:0.00,0.51:0.00,0.51:0.00,0.79:60,60:68.5,16.5:0,0:0,0:102,21:20,109:17,10:-,chr1 g.104813897_104813902delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 105060279 rs56264754 ATG A 8 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=11;PC=0.011;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:ATG,A:4:5:0:4:1,3:34,110:0.00,8.06:0.00,6.48:0.00,1.58:0.00,0.78:0.00,0.78:0.00,0.87:60,60:0.0,49.7:0,1:0,0:100,48:36,98:0,38:-,chr1 g.105060280_105060281delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 105188423 rs55977207 CTGTGTG C 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTGTGTG/0.1771,C/0.8229;DB;DBA=NA;PAF=CTGTGTG/0.1771,C/0.8229;NP=125;PC=0.045;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:2:0:4:2:129:6.85:0.15:6.70:0.51:0.79:0.51:60:99.0:2:0:87:63:18:chr1 g.105188424_105188429delTGTGTG (intergenic),chr1 g.105188424_105188429delTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 105188453 rs7528935 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2334,A/0.7666;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,G:4:2:0:0:3,1:99,25:10.36,0.00:5.58,0.00:4.78,0.00:0.85,0.00:0.95,0.00:0.99,0.00:60,60:68.3,0.0:0,0:0,0:98,129:53,22:31,0:chr1 g.105188452G>A (intergenic),-:0.76,-:NOT_FOUND,- 1 106211351 rs72278658 CGTGT C 22 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=38;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:8:6:228:21.96:11.23:10.73:1.00:1.00:1.00:60:12.7:1:0:63:67:20:chr1 g.106211352_106211355delGTGT (intergenic),chr1 g.106211352_106211355delGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 106288896 rs57360992 T TACACAC 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8183,TAC/0.1817,TACAC/.;DB;DBA=NA;PAF=T/0.8183,TAC/0.1817;NP=22;NP=24;PC=0.032;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:T,TACACAC:7:5:3:0:4,3:118,93:0.00,8.66:0.00,4.13:0.00,4.53:0.00,0.69:0.00,0.93:0.00,0.93:60,60:12.8,44.3:0,0:0,0:36,79:96,71:10,6:-,chr1 g.106288896_106288897insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 106434008 rs1674733 C T 238 nt VT=SNV;PN=T;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.0009984,T/0.999;NP=3409;PC=0.077 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:171:G,T:64:28:0:0:1,63:11,2089:0.19,238.50:0.00,72.31:0.19,166.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:67.0,42.2:0,0:0,0:96,97:55,52:0,29:chr1 g.106434007C>T (intergenic),chr1 g.106434007C>T (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 106434318 rs72691646 T A 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8085,A/0.1915;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,T:13:11:0:1:8,5:245,167:24.53,0.00:17.19,0.00:7.33,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:81.5,13.8:0,0:0,0:49,33:101,118:17,28:chr1 g.106434317T>A (intergenic),-:0.19,-:NOT_FOUND,- 1 106434319 rs72691647 T A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8554,A/0.1446;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:14:12:0:0:8,6:238,198:23.43,0.00:16.16,0.00:7.27,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:81.5,11.5:0,0:0,0:50,51:100,99:17,30:chr1 g.106434318T>A (intergenic),-:0.15,-:NOT_FOUND,- 1 106435109 rs12753157 A T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.8574,T/0.1426;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,T:10:4:0:0:3,7:107,227:0.00,23.38:0.00,9.76:0.00,13.62:0.00,1.00:0.00,0.99:0.00,1.00:60,60:4.3,35.1:0,0:0,0:98,79:53,72:4,53:-,chr1 g.106435108A>T (intergenic):-,0.16:-,NOT_FOUND 1 106435772 rs12066937 T G 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.8466,G/0.1534;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:14:0:0:9,11:301,323:28.43,0.00:18.50,0.00:9.92,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:42.2,10.7:0,0:0,0:77,42:73,109:27,10:chr1 g.106435771T>G (intergenic),-:0.17,-:NOT_FOUND,- 1 106813445 rs61788366 G T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4864,T/0.5136;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:G,T:6:4:0:0:3,3:100,89:0.00,8.52:0.00,3.76:0.00,4.76:0.00,0.73:0.00,0.51:0.00,0.51:60,60:4.0,33.3:0,0:0,0:83,90:60,61:8,5:-,chr1 g.106813444G>T (intergenic):-,0.49:-,NOT_FOUND 1 106988163 . CGTGT C 10 rn VT=DEL;SST=Single;DP=5;NP=10;PC=0.003;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CGTGT,C:4:3:0:4:1,3:35,120:0.00,9.67:0.00,4.83:0.00,4.83:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,21.3:0,1:0,0:90,24:42,99:0,12:-,chr1 g.106988164_106988167delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 107056139 rs59147454 A G,ATG 10 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3942,G/0.6058;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:21:A,G,ATG:5:3:5:0:1,1,3:12,34,158:0.00,2.97,9.79:0.00,1.45,1.27:0.00,1.52,8.52:0.00,0.00,0.69:0.00,0.00,0.83:0.00,0.00,0.95:60,60,70:24.0,41.0,24.0:0,0,2:0,0,0:124,96,95:27,39,55:0,0,5:chr1 g.107056138A>G (intergenic),chr1 g.107056139_107056140insTG (intergenic):0.56,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 107107617 rs368589004 GGT G,GGTGTGTGT 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:30:GGT,GGTGTGTGT,G:5:2:2:2:1,2,2:34,62,67:0.00,6.14,6.64:0.00,-0.22,1.52:0.00,6.36,5.12:0.00,0.00,0.46:0.00,0.00,0.70:0.00,0.00,0.87:60,60,70:0.0,11.5,6.0:0,0,0:0,0,0:61,76,70:89,74,80:0,28,51:chr1 g.107107618_107107619delGT (intergenic),chr1 g.107107618GT[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 107600466 . G . . NT END=107691215;NT GT ./. 1 107691462 . G . . NT END=107866903;NT GT ./. 1 107867545 . G . . NT END=107937775;NT GT ./. 1 107867717 rs1132933 A C 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4906,C/0.5094;Gene=NTNG1/NM_001312688/0;CC=c.887+173A>C;VC=Intron;Gene=NTNG1/NM_014917.2/0;CC=c.887+173A>C;VC=Intron;Gene=NTNG1/NM_001113226.1/0;CC=c.887+173A>C;VC=Intron;Gene=NTNG1/NM_001113228.1/1;CC=c.887+173A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:423:48.46:0.00:48.46:1.00:0.00:1.00:60:45.8:0:0:101:48:7:NM_001113226.1(NTNG1) c.887+173A>C,NM_001113226.1(NTNG1) c.887+173A>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 107937949 . G . . NT END=107950303;NT GT ./. 1 107950331 . G . . NT END=107961201;NT GT ./. 1 107961268 . G . . NT END=107963705;NT GT ./. 1 107963766 . G . . NT END=107973371;NT GT ./. 1 107973540 . G . . NT END=107979286;NT GT ./. 1 107979396 rs480392 A C 322 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.04972,C/0.9503;PC=1.000;Gene=NTNG1/NM_001312688/0;CC=c.1263A>C;ProtCh=p.G421=;VC=Silent;Gene=NTNG1/NM_014917.2/0;CC=c.1087+29066A>C;VC=Intron;Gene=NTNG1/NM_001113226.1/0;CC=c.1365A>C;ProtCh=p.G455=;VC=Silent;Gene=NTNG1/NM_001113228.1/1;CC=c.1213+15631A>C;VC=Intron;DM=NTNG1/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:52:0:0:83:2826:322.05:131.16:190.89:1.00:1.00:1.00:60:36.6:0:0:88:61:26:NM_001113226.1(NTNG1) c.1365A>C (p.(=)),NM_001113226.1(NTNG1) c.1365A>C (p.(=)):0.96,0.96:0.95466,0.95466 1 107979422 . G . . NT END=108023232;NT GT ./. 1 107979566 rs56311800 AT A 40 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=AT/0.4109,A/0.5891;DB;DBA=NA;PAF=AT/0.4109,A/0.5891;NP=1013;Gene=NTNG1/NM_001312688/0;CC=c.1288+147delT;VC=Intron;Gene=NTNG1/NM_014917.2/0;CC=c.1087+29238delT;VC=Intron;Gene=NTNG1/NM_001113226.1/0;CC=c.1390+147delT;VC=Intron;Gene=NTNG1/NM_001113228.1/1;CC=c.1213+15803delT;VC=Intron;DM=NTNG1/Laminin_EGF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:23:0:0:13:10,13:324,408:0.00,40.16:0.00,0.00:0.00,40.16:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,4.9:0,0:0,0:124,88:27,63:14,16:-,NM_001113226.1(NTNG1) c.1390+146delT:-,0.6:-,NOT_FOUND 1 107981899 rs3064151 C CGTGTGTGTGTGT 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3393,CGT/0.6607,CGTGT/.,CGTGTGT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3393,CGT/0.6607;NP=1;NP=19;NP=2;NP=363;NP=8;PC=0.001;Gene=NTNG1/NM_001312688/0;CC=c.1288+2507_1288+2508insTGTGTGTGTGTG;VC=Intron;Gene=NTNG1/NM_014917.2/0;CC=c.1087+31598_1087+31599insTGTGTGTGTGTG;VC=Intron;Gene=NTNG1/NM_001113226.1/0;CC=c.1390+2507_1390+2508insTGTGTGTGTGTG;VC=Intron;Gene=NTNG1/NM_001113228.1/1;CC=c.1213+18163_1213+18164insTGTGTGTGTGTG;VC=Intron;DM=NTNG1/Laminin_EGF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CGTGTGTGTGTGT:3:4:3:0:1,2:34,98:0.00,6.45:0.00,4.81:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,35.0:0,1:0,0:145,69:6,81:0,8:-,NM_001113226.1(NTNG1) c.1390+2478_1390+2479insGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 108023463 . G . . NT END=108115952;NT GT ./. 1 108047973 rs12063102 C T 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.9587,T/0.04133;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:13:0:0:13,12:442,354:0.00,33.56:0.00,15.48:0.00,18.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,44.9:0,0:0,0:55,109:84,39:20,22:-,chr1 g.108047972C>T (intergenic):-,0.04:-,NOT_FOUND 1 108115995 . C . . NT END=108116668;NT GT ./. 1 108116821 . C . . NT END=108119013;NT GT ./. 1 108119098 . C . . NT END=108121315;NT GT ./. 1 108121323 rs1410404 C A 45 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.6681,A/0.3319,T/.;PC=0.001;Gene=VAV3/NM_001079874.1/0;CC=c.671-4503G>T;VC=Intron;Gene=VAV3/NM_006113.4/1;CC=c.2351-4503G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:36:30:0:0:16,20:481,561:45.00,0.00:37.37,0.00:7.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.2,19.6:0,2:0,0:84,59:67,91:35,37:NM_006113.4(VAV3) c.2351-4503G>T,-:0.36,-:NOT_FOUND,- 1 108121482 . C . . NT END=108138833;NT GT ./. 1 108138964 . C . . NT END=108145018;NT GT ./. 1 108139003 rs3748702 C T 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.6737,T/0.3263;Gene=VAV3/NM_001079874.1/0;CC=c.541-40G>A;VC=Intron;Gene=VAV3/NM_006113.4/1;CC=c.2221-40G>A;VC=Intron;DM=VAV3/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:22:0:0:28,20:936,670:0.00,62.38:0.00,18.22:0.00,44.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,48.3:0,0:0,0:84,93:56,54:26,12:-,NM_006113.4(VAV3) c.2221-40G>A:-,0.36:-,0.356528 1 108144828 rs1571343 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6719,T/0.3281;Gene=VAV3/NM_001079874.1/0;CC=c.540+191G>A;VC=Intron;Gene=VAV3/NM_006113.4/1;CC=c.2220+191G>A;VC=Intron;DM=VAV3/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:5:5:0:0:2,3:66,100:0.00,9.97:0.00,9.97:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:44.0,33.3:0,0:0,0:71,52:79,98:56,2:-,NM_006113.4(VAV3) c.2220+191G>A:-,0.36:-,NOT_FOUND 1 108145107 . C . . NT END=108145668;NT GT ./. 1 108145368 rs1571342 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.07847,T/0.9215;Gene=VAV3/NM_001079874.1/0;CC=c.453-262G>A;VC=Intron;Gene=VAV3/NM_006113.4/1;CC=c.2133-262G>A;VC=Intron;DM=VAV3/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:133:15.21:11.43:3.78:1.00:1.00:1.00:60:36.2:0:0:95:56:20:NM_006113.4(VAV3) c.2133-262G>A,NM_006113.4(VAV3) c.2133-262G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 108145786 . C . . NT END=108152552;NT GT ./. 1 108152588 . C . . NT END=108160188;NT GT ./. 1 108152630 rs2296877 G T 44 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.7815,T/0.2185;PC=1.000;Gene=VAV3/NM_001079874.1/0;CC=c.301-43C>A;VC=Intron;Gene=VAV3/NM_006113.4/1;CC=c.1981-43C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:31:18:0:0:16,15:523,462:0.00,44.03:0.00,11.86:0.00,32.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,36.4:0,0:0,0:99,88:42,59:27,48:-,NM_006113.4(VAV3) c.1981-43C>A:-,0.23:-,0.16008 1 108160255 . C . . NT END=108185240;NT GT ./. 1 108160260 rs5776894 GA G 75 idl,rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=GA/0.6556,G/0.3444;NP=615;Gene=VAV3/NM_001079874.1/0;CC=c.235-7delT;VC=Intron;Gene=VAV3/NM_006113.4/1;CC=c.1915-7delT;VC=Intron;DM=VAV3/SH3_2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,T,I,G:61:41:5:30:1,28,1,5,26:11,804,30,142,922:-0.01,0.00,1.48,10.06,75.37:-0.08,0.00,0.75,0.97,37.58:0.07,0.00,0.73,9.10,37.79:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:11.0,8.6,30.0,72.2,14.8:0,0,0,0,4:0,0,0,0,0:0,88,84,104,70:151,55,5,46,75:0,30,0,9,18:-,NM_006113.4(VAV3) c.1915-7delT:-,NOT_FOUND:-,NOT_FOUND 1 108185378 . C . . NT END=108211308;NT GT ./. 1 108212095 . C . . NT END=108226109;NT GT ./. 1 108226156 . C . . NT END=108231002;NT GT ./. 1 108231127 . G . . NT END=108247171;NT GT ./. 1 108247273 . C . . NT END=108247581;NT GT ./. 1 108247684 . C . . NT END=108291589;NT GT ./. 1 108291700 . C . . NT END=108292083;NT GT ./. 1 108292217 . C . . NT END=108293738;NT GT ./. 1 108292260 rs6672483 A G 178 nt VT=SNV;PN=A;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.2252,G/0.7748;PC=0.045;Gene=VAV3/NM_006113.4/1;CC=c.1260-44T>C;VC=Intron;DM=VAV3/PH;DM=VAV3/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G:47:22:0:0:47:1557:178.02:51.05:126.97:1.00:1.00:1.00:60:40.1:0:0:83:63:20:NM_006113.4(VAV3) c.1260-44T>C,NM_006113.4(VAV3) c.1260-44T>C:0.75,0.75:0.631291,0.631291 1 108293825 . C . . NT END=108298048;NT GT ./. 1 108293874 rs7516071 A G 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.8395,G/0.1605;Gene=VAV3/NM_006113.4/1;CC=c.1174-50T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:14:0:0:22,13:716,432:0.00,39.37:0.00,5.73:0.00,33.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,64.7:0,0:0,0:113,110:38,41:20,26:-,NM_006113.4(VAV3) c.1174-50T>C:-,0.16:-,0.125039 1 108293899 rs7518423 T A 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8401,A/0.1599;PC=0.001;Gene=VAV3/NM_006113.4/1;CC=c.1174-75A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:8:0:0:10,15:317,496:29.16,0.00:2.59,0.00:26.57,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:64.0,3.1:0,0:0,0:108,117:42,34:21,18:NM_006113.4(VAV3) c.1174-75A>T,-:0.16,-:NOT_FOUND,- 1 108298136 . C . . NT END=108299882;NT GT ./. 1 108299775 rs55682924 ATG A 18 idl,rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=327;PC=0.001;Gene=VAV3/NM_006113.4/1;CC=c.1086+106_1086+107delCA;VC=Intron;DM=VAV3/RhoGEF;DM=VAV3/RhoGEF;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATG,A:21:21:0:11:14,7:383,335:0.00,18.39:0.00,14.21:0.00,4.19:0.00,0.96:0.00,1.00:0.00,0.84:60,60:20.9,75.4:0,4:0,0:48,35:79,115:38,25:-,NM_006113.4(VAV3) c.1086+106_1086+107delCA:-,NOT_FOUND:-,NOT_FOUND 1 108299809 rs60699898 G A 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5054,A/0.4946;DB;DBA=NA;PAF=NA;PC=0.014;Gene=VAV3/NM_006113.4/1;CC=c.1086+74C>T;VC=Intron;DM=VAV3/RhoGEF;DM=VAV3/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:19:0:0:9,13:299,404:27.74,0.00:16.47,0.00:11.28,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:46.4,27.9:0,0:0,0:49,53:101,87:33,14:NM_006113.4(VAV3) c.1086+74C>T,-:0.46,-:NOT_FOUND,- 1 108299952 . C . . NT END=108303405;NT GT ./. 1 108303502 . C . . NT END=108307697;NT GT ./. 1 108303686 rs7417283 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3183,T/0.6817;PC=0.001;Gene=VAV3/NM_006113.4/1;CC=c.922-185G>A;VC=Intron;DM=VAV3/RhoGEF;DM=VAV3/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:C,T:11:0:0:0:5,6:171,181:0.00,17.67:0.00,0.00:0.00,17.67:0.00,0.98:0.00,0.00:0.00,0.98:60,60:15.4,45.8:0,0:0,0:115,104:36,46:30,17:-,NM_006113.4(VAV3) c.922-185G>A:-,0.72:-,NOT_FOUND 1 108307642 rs7514025 C T 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3111,T/0.6889;Gene=VAV3/NM_006113.4/1;CC=c.921+56G>A;VC=Intron;DM=VAV3/RhoGEF;DM=VAV3/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:25:0:0:13,13:435,429:0.00,41.27:0.00,34.37:0.00,6.90:0.00,1.00:0.00,1.00:0.00,0.51:60,60:4.5,33.9:0,0:0,0:47,64:103,87:21,11:-,NM_006113.4(VAV3) c.921+56G>A:-,0.73:-,NOT_FOUND 1 108307798 . C . . NT END=108309068;NT GT ./. 1 108309173 . C . . NT END=108311062;NT GT ./. 1 108311132 . C . . NT END=108313257;NT GT ./. 1 108313258 rs6583048 C T 81 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.3291,T/0.6709;PC=1.000;Gene=VAV3/NM_006113.4/1;CC=c.648G>A;ProtCh=p.K216=;VC=Silent;DM=VAV3/RhoGEF;DM=VAV3/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:28:0:0:12,23:385,796:0.00,80.82:0.00,58.73:0.00,22.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.4,43.6:0,0:0,0:40,73:108,78:10,31:-,NM_006113.4(VAV3) c.648G>A (p.(=)):-,0.71:-,0.759695 1 108313351 . C . . NT END=108315356;NT GT ./. 1 108315305 rs4611048 C T 139 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.04453,T/0.9555;Gene=VAV3/NM_006113.4/1;CC=c.555+52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:T:42:40:0:0:42:1196:139.32:126.91:12.42:1.00:1.00:1.00:60:40.7:0:0:66:84:37:NM_006113.4(VAV3) c.555+52G>A,NM_006113.4(VAV3) c.555+52G>A:0.96,0.96:0.961941,0.961941 1 108315466 . C . . NT END=108319852;NT GT ./. 1 108319919 . C . . NT END=108322055;NT GT ./. 1 108322115 . C . . NT END=108328079;NT GT ./. 1 108328247 . A . . NT END=108417522;NT GT ./. 1 108417640 . C . . NT END=108507287;NT GT ./. 1 108431754 rs5776903 A AGTGT 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=3;NP=9;Gene=VAV3/NM_006113.4/1;CC=c.205-14116_205-14115insACAC;VC=Intron;DM=VAV3/C1_1;DM=VAV3/CH;DM=VAV3/CAMSAP_CH;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,AGTGT:6:4:3:0:3,3:86,100:0.00,9.63:0.00,3.17:0.00,6.45:0.00,0.73:0.00,0.51:0.00,0.96:60,60:11.3,0.0:1,0:0,0:115,38:36,107:7,6:-,NM_006113.4(VAV3) c.205-14116_205-14115insACAC:-,NOT_FOUND:-,NOT_FOUND 1 108507492 . G . . NT END=108679274;NT GT ./. 1 108507541 rs71796067 GGCC G 294 rn VT=DEL;SST=Single;DP=113;DB;DBA=NA;PAF=GGCC/0.3558,G/0.6442;NP=171;PC=0.002;Gene=VAV3/NM_006113.4/1;CC=c.-53_-51delGGC;VC=5UTR;Gene=VAV3-AS1/NR_046653.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGCC,G:113:40:0:89:24,89:739,2768:0.00,293.58:0.00,61.50:0.00,232.08:0.00,1.00:0.00,1.00:0.00,1.00:60,70:20.2,16.4:0,0:0,0:140,86:7,65:6,30:-,NM_006113.4(VAV3) c.-53_-51delGGC:-,NOT_FOUND:-,NOT_FOUND 1 108507636 rs345269 G A 140 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4413,A/0.5587;PC=0.523;Gene=VAV3-AS1/NR_046653.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:0:0:0:38:1218:139.83:0.00:139.83:1.00:0.00:1.00:70:40.3:0:0:113:38:18:NR_046653.1(VAV3-AS1) n.62+510G>A,NR_046653.1(VAV3-AS1) n.62+510G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 108577740 rs66752764 TCA T 31 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=513;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:TCA,T:10:4:0:9:1,9:36,279:0.00,30.78:0.00,5.10:0.00,25.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,12.2:0,0:0,0:105,85:26,50:0,26:-,chr1 g.108577741_108577742delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 108577744 rs1781073 A T 22 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5927,T/0.4073 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,T:9:2:0:0:2,7:64,211:0.00,22.34:0.00,3.77:0.00,18.58:0.00,1.00:0.00,0.96:0.00,1.00:60,60:38.0,5.6:2,6:0,0:108,47:27,104:9,36:-,chr1 g.108577743A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 108679460 . C . . NT END=108681679;NT GT ./. 1 108681831 . C . . NT END=108686164;NT GT ./. 1 108686333 . C . . NT END=108690900;NT GT ./. 1 108691009 . C . . NT END=108697604;NT GT ./. 1 108697758 . C . . NT END=108700083;NT GT ./. 1 108697845 rs7555964 C G 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4908,G/0.5092;Gene=SLC25A24/NM_213651.2/1;CC=c.613-88G>C;VC=Intron;Gene=SLC25A24/NM_013386.4/0;CC=c.670-88G>C;VC=Intron;DM=SLC25A24/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:6:0:0:9,16:309,526:0.00,53.14:0.00,6.35:0.00,46.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,33.6:0,0:0,0:96,120:55,30:26,17:-,NM_213651.2(SLC25A24) c.613-88G>C:-,0.53:-,NOT_FOUND 1 108700243 . C . . NT END=108703803;NT GT ./. 1 108703916 . C . . NT END=108724562;NT GT ./. 1 108724518 rs490680 A G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3117,G/0.6883;Gene=SLC25A24/NM_213651.2/1;CC=c.341+45T>C;VC=Intron;Gene=SLC25A24/NM_013386.4/0;CC=c.398+45T>C;VC=Intron;DM=SLC25A24/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:14:13:0:0:8,6:269,189:0.00,17.61:0.00,16.12:0.00,1.49:0.00,0.96:0.00,1.00:0.00,0.83:60,60:1.2,37.8:0,0:0,0:42,53:108,98:35,38:-,NM_213651.2(SLC25A24) c.341+45T>C:-,0.71:-,0.74331 1 108724651 . C . . NT END=108728449;NT GT ./. 1 108724693 rs491785 G A 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3117,A/0.6883;Gene=SLC25A24/NM_213651.2/1;CC=c.254-43C>T;VC=Intron;Gene=SLC25A24/NM_013386.4/0;CC=c.311-43C>T;VC=Intron;DM=SLC25A24/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:9:0:0:10,7:302,226:29.95,0.00:11.69,0.00:18.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.1,1.3:0,0:0,0:109,91:40,53:36,35:NM_213651.2(SLC25A24) c.254-43C>T,-:0.71,-:0.745388,- 1 108724766 rs492601 G A 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3117,A/0.6883;Gene=SLC25A24/NM_213651.2/1;CC=c.254-116C>T;VC=Intron;Gene=SLC25A24/NM_013386.4/0;CC=c.311-116C>T;VC=Intron;DM=SLC25A24/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:11:0:0:0:8,3:253,103:26.32,0.00:0.00,0.00:26.32,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:57.0,0.0:0,0:0,0:98,99:52,52:36,25:NM_213651.2(SLC25A24) c.254-116C>T,-:0.71,-:NOT_FOUND,- 1 108728577 . C . . NT END=108735117;NT GT ./. 1 108735383 rs41278472 C T 174 lc VT=SNV;PN=A;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.9539,T/0.04613;Gene=SLC25A24/NM_213651.2/1;CC=c.-140G>A;VC=5UTR;Gene=SLC25A24/NM_013386.4/0;CC=c.184-6807G>A;VC=Intron;DM=SLC25A24/EF-hand_7;DM=SLC25A24/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:119:68:0:0:62,57:2069,1822:0.00,173.63:0.00,63.69:0.00,109.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,34.8:0,0:0,0:99,88:50,63:21,27:-,NM_213651.2(SLC25A24) c.-140G>A:-,0.04:-,NOT_FOUND 1 108735432 . A . . NT END=108742577;NT GT ./. 1 108742761 . G . . NT END=108766326;NT GT ./. 1 108742952 rs2840307 G T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6506,T/0.3494;Gene=SLC25A24/NM_013386.4/0;CC=c.-192C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,G,T:17:0:0:0:2,10,5:11,275,167:-0.04,0.00,14.92:0.00,0.00,0.00:-0.04,0.00,14.92:0.00,0.00,0.88:0.00,0.00,0.00:0.00,0.00,0.88:60,60,60:137.5,20.7,54.4:0,0,0:0,0,0:90,111,73:60,39,78:47,14,22:-,NM_013386.4(SLC25A24) c.-192C>A:-,0.33:-,NOT_FOUND 1 108766133 rs3870737 A G 51 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5559,G/0.4441;Gene=NBPF4/NM_001143989.2/1;CC=c.*194T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A,G:16:16:0:0:1,15:34,456:0.00,51.07:0.00,51.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:13,60:9.0,40.2:0,0:0,0:34,61:116,90:0,35:NM_001143989.2(NBPF4) c.*194T>C,NM_001143989.2(NBPF4) c.*194T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 108766369 . C . . NT END=108769300;NT GT ./. 1 108766424 rs3879436 A G 144 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5954,G/0.4046;Gene=NBPF4/NM_001143989.2/1;CC=c.1876-56T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A,G:40:17:0:0:1,39:8,1274:0.00,144.46:0.00,39.84:0.00,104.62:0.00,1.00:0.00,1.00:0.00,1.00:50,60:8.0,38.9:0,0:0,0:85,97:66,51:0,30:NM_001143989.2(NBPF4) c.1876-56T>C,NM_001143989.2(NBPF4) c.1876-56T>C:0.35,0.35:NOT_FOUND,NOT_FOUND 1 108769255 rs148989127 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7005,A/0.2995;Gene=NBPF4/NM_001143989.2/1;CC=c.1875+46C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:129:14.81:3.88:10.93:1.00:1.00:1.00:27:74.5:0:0:38:113:22:NM_001143989.2(NBPF4) c.1875+46C>T,NM_001143989.2(NBPF4) c.1875+46C>T:0.29,0.29:NOT_FOUND,NOT_FOUND 1 108769307 rs367656931 G A 21 lc VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7804,A/0.2196;NP=17;Gene=NBPF4/NM_001143989.2/1;CC=c.1869C>T;ProtCh=p.S623=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,C:9:0:0:0:8,1:179,9:21.22,0.51:0.00,0.00:21.22,0.51:1.00,0.00:0.00,0.00:1.00,0.00:40,40:50.5,22.0:0,0:0,0:41,36:110,99:13,0:NM_001143989.2(NBPF4) c.1869C>T (p.(=)),NM_001143989.2(NBPF4) c.1869C>T (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 108769516 . C . . NT END=108771541;NT GT ./. 1 108769638 rs61799398 G A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.05911,A/0.9409;Gene=NBPF4/NM_001143989.2/1;CC=c.1661-123C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:6:0:0:0:3,3:72,60:6.81,0.00:0.00,0.00:6.81,0.00:0.73,0.00:0.00,0.00:0.73,0.00:27,27:134.0,23.7:0,0:0,0:11,1:140,150:9,1:NM_001143989.2(NBPF4) c.1661-123C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 108769648 rs201783906 T A 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=5;Gene=NBPF4/NM_001143989.2/1;CC=c.1661-133A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,T:11:0:0:0:7,4:206,108:20.78,0.00:0.00,0.00:20.78,0.00:1.00,0.00:0.00,0.00:1.00,0.00:27,27:98.1,20.0:0,0:0,0:8,10:143,140:4,2:NM_001143989.2(NBPF4) c.1661-133A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 108769779 rs200240196 A C 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=17;Gene=NBPF4/NM_001143989.2/1;CC=c.1661-264T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:13:0:0:0:6,7:205,190:0.00,18.33:0.00,0.00:0.00,18.33:0.00,0.99:0.00,0.00:0.00,0.99:27,27:13.3,61.3:0,0:0,0:138,138:12,13:5,5:-,NM_001143989.2(NBPF4) c.1661-264T>G:-,NOT_FOUND:-,NOT_FOUND 1 108771524 rs61799399 C T 221 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=447;Gene=NBPF4/NM_001143989.2/1;CC=c.1660+18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:T:61:57:0:0:61:1923:221.31:206.10:15.21:1.00:1.00:1.00:40:43.1:0:0:43:108:31:NM_001143989.2(NBPF4) c.1660+18G>A,NM_001143989.2(NBPF4) c.1660+18G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 108771779 . C . . NT END=108786205;NT GT ./. 1 108786419 . C . . NT END=108786520;NT GT ./. 1 108786717 . G . . NT END=108992890;NT GT ./. 1 108907549 rs71098674 C CTG 8 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=12;PC=0.039;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,CTG:5:4:3:0:2,3:70,85:0.00,8.47:0.00,4.83:0.00,3.63:0.00,0.78:0.00,0.97:0.00,0.97:21,50:0.0,9.7:0,0:0,0:133,38:18,112:8,14:-,chr1 g.108907549_108907550insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 108918388 . T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=73;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:C,G,T:73:73:0:0:10,1,62:316,13,1899:23.83,-0.13,0.00:23.83,-0.13,0.00:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:25,25,25:40.5,21.0,14.0:0,0,0:0,0,0:48,50,49:102,101,101:44,0,30:chr1 g.108918387T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 108918512 rs199897928 G A 223 nt VT=SNV;PN=T;NN=C;SST=Single;DP=195;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:195:141:0:0:79,116:2428,3954:223.26,0.00:138.09,0.00:85.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:25,40:38.0,10.9:0,0:0,0:57,53:94,97:36,27:chr1 g.108918511G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 108918667 . T G 25 end;mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=66;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:66:32:0:0:11,55:324,1732:24.75,0.00:9.07,0.00:15.68,0.00:0.99,0.00:0.99,0.00:1.00,0.00:19,40:40.0,10.3:0,0:0,0:149,112:2,39:1,24:chr1 g.108918666T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 108992871 . T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;NP=5;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,T:17:17:0:0:4,13:140,423:11.88,0.00:11.88,0.00:0.00,0.00:0.74,0.00:0.74,0.00:0.00,0.00:25,25:35.0,10.8:0,0:0,0:84,96:67,55:4,12:NM_001143987.1(NBPF6) c.-218-u33T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 108992946 . A G 17 end;mq,lc VT=SNV;PN=C;NN=C;SST=Single;DP=11;Gene=NBPF6/NM_001143987.1/1;CC=c.-176A>G;VC=5UTR;Gene=NBPF6/NM_001143988.1/0;CC=c.-176A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:11:10:0:0:4,7:66,171:0.00,17.30:0.00,17.93:0.00,-0.62:0.00,1.00:0.00,1.00:0.00,0.89:40,19:94.5,32.9:0,0:0,0:49,2:100,148:16,1:-,NM_001143987.1(NBPF6) c.-176A>G:-,NOT_FOUND:-,NOT_FOUND 1 108992995 rs201877185 G A 33 lc VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=NBPF6/NM_001143987.1/1;CC=c.-127G>A;VC=5UTR;Gene=NBPF6/NM_001143988.1/0;CC=c.-127G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:60:0:0:14,47:410,1566:33.43,0.00:33.59,0.00:-0.17,0.00:1.00,0.00:1.00,0.00:0.51,0.00:27,40:35.1,15.4:0,0:0,0:19,26:130,125:17,16:NM_001143987.1(NBPF6) c.-127G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 108993087 . G . . NT END=108993188;NT GT ./. 1 108993402 . G . . NT END=108994811;NT GT ./. 1 108994754 rs368437174 C G 10 end;mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4643,G/0.5357;NP=28;PC=0.009;Gene=NBPF6/NM_001143987.1/1;CC=c.179-58C>G;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.179-58C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,G:4:4:0:0:1,3:10,91:0.00,9.60:0.00,9.60:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:25,19:45.0,33.3:0,0:0,0:23,2:128,148:0,1:-,NM_001143987.1(NBPF6) c.179-58C>G:-,NOT_FOUND:-,NOT_FOUND 1 108994912 . G . . NT END=109007809;NT GT ./. 1 108994925 rs115514944 A G 222 nt VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.3393,G/0.6607;Gene=NBPF6/NM_001143987.1/1;CC=c.278+14A>G;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.278+14A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G:60:51:0:0:60:1935:221.90:124.23:97.67:1.00:1.00:1.00:45:61.4:0:0:92:52:27:NM_001143987.1(NBPF6) c.278+14A>G,NM_001143987.1(NBPF6) c.278+14A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 108994952 rs145700606 G T 152 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.3247,T/0.6753;NP=1091;PC=0.001;Gene=NBPF6/NM_001143987.1/1;CC=c.278+41G>T;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.278+41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G,T:43:26:0:0:1,42:34,1342:0.00,152.12:0.00,59.80:0.00,92.32:0.00,1.00:0.00,1.00:0.00,1.00:25,45:0.0,68.4:0,0:0,0:24,107:125,39:0,18:NM_001143987.1(NBPF6) c.278+41G>T,NM_001143987.1(NBPF6) c.278+41G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 108995632 rs4265454 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=NBPF6/NM_001143987.1/1;CC=c.279-171A>G;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.279-171A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:141:16.01:8.10:7.90:1.00:1.00:1.00:60:76.5:0:0:92:58:29:NM_001143987.1(NBPF6) c.279-171A>G,NM_001143987.1(NBPF6) c.279-171A>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 109008047 . G . . NT END=109010072;NT GT ./. 1 109009886 rs189995351 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBPF6/NM_001143987.1/1;CC=c.1748-187A>G;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.1661-187A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G,T:8:8:0:0:7,1:193,12:22.20,0.81:22.20,0.81:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,27:93.0,93.0:0,0:0,0:31,116:120,33:24,0:NM_001143987.1(NBPF6) c.1748-187A>G,NM_001143987.1(NBPF6) c.1748-187A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 109009940 rs372554854 A T 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF6/NM_001143987.1/1;CC=c.1748-133A>T;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.1661-133A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:44:0:0:30,14:947,404:0.00,35.11:0.00,35.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:43,40:12.0,101.5:0,0:0,0:29,35:121,116:15,25:-,NM_001143987.1(NBPF6) c.1748-133A>T:-,NOT_FOUND:-,NOT_FOUND 1 109009950 rs375591561 C T 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF6/NM_001143987.1/1;CC=c.1748-123C>T;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.1661-123C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:54:54:0:0:1,35,18:10,1082,576:-0.12,0.00,51.44:-0.12,0.00,51.44:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:25,43,40:149.0,11.7,83.6:0,0,0:0,0,0:95,34,24:56,117,125:0,15,18:-,NM_001143987.1(NBPF6) c.1748-123C>T:-,NOT_FOUND:-,NOT_FOUND 1 109009953 rs370003708 C T 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF6/NM_001143987.1/1;CC=c.1748-120C>T;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.1661-120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:56:0:0:45,11:1427,311:0.00,24.33:0.00,24.33:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:43,40:21.5,100.5:0,0:0,0:34,39:117,112:18,29:-,NM_001143987.1(NBPF6) c.1748-120C>T:-,NOT_FOUND:-,NOT_FOUND 1 109009978 rs377200899 G GC 53 nt VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1;Gene=NBPF6/NM_001143987.1/1;CC=c.1748-94dupC;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.1661-94dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GC:66:66:25:0:1,39,1,25:10,1134,9,600:-0.11,0.00,-0.14,52.94:-0.10,0.00,-0.13,53.25:-0.01,0.00,-0.01,-0.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.78:25,43,27,43:36.0,12.2,81.0,68.7:0,2,0,0:0,0,0,0:90,52,21,40:61,99,130,106:0,17,0,17:-,NM_001143987.1(NBPF6) c.1748-95_1748-94insC:-,NOT_FOUND:-,NOT_FOUND 1 109010288 . G . . NT END=109013218;NT GT ./. 1 109010455 rs2260492 C T 11 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF6/NM_001143987.1/1;CC=c.1962+168C>T;VC=Intron;Gene=NBPF6/NM_001143988.1/0;CC=c.1875+168C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,T:18:0:0:0:14,4:480,129:0.00,10.67:0.00,0.00:0.00,10.67:0.00,0.73:0.00,0.00:0.00,0.73:56,40:8.6,40.2:0,0:0,0:111,142:40,8:16,2:-,NM_001143987.1(NBPF6) c.1962+168C>T:-,NOT_FOUND:-,NOT_FOUND 1 109013261 . A . . NT END=109103050;NT GT ./. 1 109013458 rs2992768 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.09006,T/0.9099 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:161:18.48:0.00:18.48:1.00:0.00:1.00:42:32.2:0:0:105:44:19:chr1 g.109013457C>T (intergenic),chr1 g.109013457C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 109031868 . C A 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,C:4:4:0:0:2,2:66,65:6.35,0.00:4.81,0.00:1.54,0.00:0.51,0.00:0.51,0.00:0.89,0.00:40,43:76.5,48.0:0,0:0,0:25,52:106,69:23,29:chr1 g.109031867C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 109046211 rs2804260 T C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.07528,C/0.9247 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:0:0:0:12:350:40.71:0.00:40.71:1.00:0.00:1.00:60:35.5:0:0:88:62:32:chr1 g.109046210T>C (intergenic),chr1 g.109046210T>C (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 1 109103188 . G . . NT END=109143187;NT GT ./. 1 109142993 rs4970790 A T 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.04593,T/0.9541;Gene=FAM102B/NM_001010883.2/1;CC=c.138-195A>T;VC=Intron;DM=FAM102B/NT-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:536:61.67:61.67:0.00:1.00:1.00:0.00:60:45.5:0:0:51:99:48:NM_001010883.2(FAM102B) c.138-195A>T,NM_001010883.2(FAM102B) c.138-195A>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 109143093 rs17024882 C T 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9736,T/0.02636;Gene=FAM102B/NM_001010883.2/1;CC=c.138-95C>T;VC=Intron;DM=FAM102B/NT-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:29:0:0:17,14:587,434:0.00,40.80:0.00,34.78:0.00,6.02:0.00,1.00:0.00,1.00:0.00,0.99:60,60:18.9,50.8:0,0:0,0:34,52:116,98:18,30:-,NM_001010883.2(FAM102B) c.138-95C>T:-,0.03:-,NOT_FOUND 1 109143309 . G . . NT END=109148844;NT GT ./. 1 109148875 . G . . NT END=109154799;NT GT ./. 1 109154917 . G . . NT END=109159003;NT GT ./. 1 109155144 rs904330 G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.05531,A/0.9447;Gene=FAM102B/NM_001010883.2/1;CC=c.405+228G>A;VC=Intron;DM=FAM102B/NT-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:32.8:0:0:85:64:28:NM_001010883.2(FAM102B) c.405+228G>A,NM_001010883.2(FAM102B) c.405+228G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 109159051 . G . . NT END=109167266;NT GT ./. 1 109167371 . G . . NT END=109170788;NT GT ./. 1 109170746 rs2133198 C T 154 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.2538,T/0.7462;PC=0.004;Gene=FAM102B/NM_001010883.2/1;CC=c.557-43C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T:44:42:0:0:44:1333:154.08:127.49:26.59:1.00:1.00:1.00:60:37.9:0:0:52:98:24:NM_001010883.2(FAM102B) c.557-43C>T,NM_001010883.2(FAM102B) c.557-43C>T:0.78,0.78:0.811472,0.811472 1 109170885 . G . . NT END=109171016;NT GT ./. 1 109171207 . G . . NT END=109171298;NT GT ./. 1 109171427 . G . . NT END=109172209;NT GT ./. 1 109172280 . G . . NT END=109177729;NT GT ./. 1 109177773 . A . . NT END=109191187;NT GT ./. 1 109191614 . C . . NT END=109192832;NT GT ./. 1 109193011 . C . . NT END=109193651;NT GT ./. 1 109193832 . C . . NT END=109197337;NT GT ./. 1 109197473 . C . . NT END=109198207;NT GT ./. 1 109198321 . C . . NT END=109200072;NT GT ./. 1 109200202 . C . . NT END=109202485;NT GT ./. 1 109202585 . C . . NT END=109203584;NT GT ./. 1 109203545 rs535396917 C CA 22 sb;idl,rn VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.9024,CA/0.09764;NP=2;Gene=HENMT1/NM_001102592.1/0;CC=c.-79+39_-79+40insT;VC=Intron;Gene=HENMT1/NM_144584.2/1;CC=c.-79+260_-79+261insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,CA,D:56:60:12:11:39,9,8:1255,372,309:0.00,22.21,19.19:0.00,21.39,15.18:0.00,0.82,4.01:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.91,0.00:60,60,60:19.0,9.2,21.5:0,3,2:0,0,0:55,52,30:94,98,89:35,24,24:-,NM_144584.2(HENMT1) c.-79+260_-79+261insT:-,NOT_FOUND:-,NOT_FOUND 1 109203630 . C . . NT END=109235213;NT GT ./. 1 109235490 . G . . NT END=109236211;NT GT ./. 1 109236265 . G . . NT END=109238323;NT GT ./. 1 109238145 rs6703128 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7642,T/0.2358;PC=0.009;Gene=PRPF38B/NM_018061.2/1;CC=c.277-179C>T;VC=Intron;Gene=PRPF38B/NR_037185.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:10:10:0:0:6,4:198,108:0.00,9.76:0.00,9.76:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:2.0,57.2:0,0:0,0:22,58:128,92:15,20:-,NM_018061.2(PRPF38B) c.277-179C>T:-,0.19:-,NOT_FOUND 1 109238393 . G . . NT END=109238664;NT GT ./. 1 109238817 . G . . NT END=109238898;NT GT ./. 1 109238960 . G . . NT END=109241225;NT GT ./. 1 109239079 rs12401944 G A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9936,A/0.00639;Gene=PRPF38B/NM_018061.2/1;CC=c.558+120G>A;VC=Intron;Gene=PRPF38B/NR_037185.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G,T:9:0:0:0:5,3,1:165,105,7:16.55,0.00,0.19:0.00,0.00,0.00:16.55,0.00,0.19:0.96,0.00,0.00:0.00,0.00,0.00:0.96,0.00,0.00:60,60,60:36.6,0.0,45.0:0,0,0:0,0,0:85,81,84:66,70,67:30,21,0:NM_018061.2(PRPF38B) c.558+120G>A,-:0.01,-:NOT_FOUND,- 1 109241450 . G . . NT END=109241783;NT GT ./. 1 109241518 rs560385865 T C 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.004;Gene=PRPF38B/NM_018061.2/1;CC=c.782+69T>C;VC=Intron;Gene=PRPF38B/NR_037185.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:14:0:0:15,12:495,351:48.63,0.00:26.10,0.00:22.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,16.8:0,0:0,0:55,80:95,70:36,50:NM_018061.2(PRPF38B) c.782+69T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 109241669 rs2297563 G A 66 nt VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.8257,A/0.1743;Gene=PRPF38B/NM_018061.2/1;CC=c.783-115G>A;VC=Intron;Gene=PRPF38B/NR_037185.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:45:0:0:23,27:698,894:65.77,0.00:53.52,0.00:12.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.1,10.7:0,0:0,0:36,60:107,90:26,22:NM_018061.2(PRPF38B) c.783-115G>A,-:0.18,-:NOT_FOUND,- 1 109242392 rs34748332 A G 151 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.9924,G/0.007588;PC=1.000;Gene=PRPF38B/NM_018061.2/1;CC=c.1391A>G;ProtCh=p.K464R;VC=Missense;Gene=PRPF38B/NR_037185.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:117:70:0:0:67,50:2135,1623:0.00,151.42:0.00,72.24:0.00,79.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,38.9:0,0:0,0:61,81:86,67:29,32:-,NM_018061.2(PRPF38B) c.1391A>G (p.Lys464Arg):-,0.01:-,0.024912 1 109242643 . A . . NT END=109255555;NT GT ./. 1 109255513 rs3006864 G T 176 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.1364,T/0.8636 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:T:48:40:0:0:48:1534:176.20:105.95:70.25:1.00:1.00:1.00:60:40.8:0:0:53:94:31:NM_001144937.1(FNDC7) c.1-u43G>T,NM_001144937.1(FNDC7) c.1-u43G>T:0.87,0.87:0.888524,0.888524 1 109255619 . G . . NT END=109256132;NT GT ./. 1 109255687 rs551804204 C CT 12 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=2;Gene=FNDC7/NM_001144937.1/1;CC=c.63+79dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,CT,D:30:5:6:1:24,5,1:813,176,33:0.00,12.09,1.95:0.00,-0.23,-0.04:0.00,12.32,1.99:0.00,0.80,0.00:0.00,0.57,0.00:0.00,0.98,0.00:60,60,60:14.1,19.6,0.0:0,1,0:0,0,0:102,84,138:47,65,13:19,33,0:-,NM_001144937.1(FNDC7) c.63+69_63+70insT:-,NOT_FOUND:-,NOT_FOUND 1 109256152 . G . . NT END=109260398;NT GT ./. 1 109258277 rs3006867 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4271,A/0.5729;Gene=FNDC7/NM_001144937.1/1;CC=c.83-2122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:137:15.61:9.79:5.82:1.00:1.00:1.00:60:118.5:0:0:80:60:15:NM_001144937.1(FNDC7) c.83-2122G>A,NM_001144937.1(FNDC7) c.83-2122G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 109258283 rs3006868 G A 16 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.525,A/0.475;NP=9;Gene=FNDC7/NM_001144937.1/1;CC=c.83-2116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:137:15.61:9.74:5.87:1.00:1.00:1.00:60:117.0:4:0:86:54:15:NM_001144937.1(FNDC7) c.83-2116G>A,NM_001144937.1(FNDC7) c.83-2116G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 109258284 rs67121639 TGC T 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=44;Gene=FNDC7/NM_001144937.1/1;CC=c.83-2106_83-2105delGC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:4:0:4:3:127:10.86:5.58:5.28:0.85:0.85:0.99:60:156.0:1:0:87:53:15:NM_001144937.1(FNDC7) c.83-2114_83-2113delGC,NM_001144937.1(FNDC7) c.83-2114_83-2113delGC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 109258290 rs55852951 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5453,T/0.4547;NP=2;PC=0.016;Gene=FNDC7/NM_001144937.1/1;CC=c.83-2109C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,T:4:4:0:0:1,3:25,102:0.00,10.66:0.00,7.10:0.00,3.55:0.00,0.85:0.00,0.85:0.00,0.99:60,60:70.0,132.7:1,3:0,0:118,90:31,58:0,3:-,NM_001144937.1(FNDC7) c.83-2109C>T:-,NOT_FOUND:-,NOT_FOUND 1 109258293 rs55716634 G A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2284,A/0.7716;NP=1;NP=114;PC=0.064;Gene=FNDC7/NM_001144937.1/1;CC=c.83-2106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:4:0:0:3,1:104,35:10.85,0.00:7.35,0.00:3.50,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:134.7,62.0:3,1:0,0:93,37:55,112:3,0:NM_001144937.1(FNDC7) c.83-2106G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 109260071 rs67570886 TTC T 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;Gene=FNDC7/NM_001144937.1/1;CC=c.83-318_83-317delCT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:TTC,T:5:5:0:3:2,3:63,91:0.00,9.07:0.00,9.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:14.0,40.0:0,0:0,0:64,66:86,77:38,20:-,NM_001144937.1(FNDC7) c.83-327_83-326delTC:-,0.59:-,NOT_FOUND 1 109260181 rs914806 A G 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2147,G/0.7853;Gene=FNDC7/NM_001144937.1/1;CC=c.83-218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:7:7:0:0:5,2:156,72:0.00,6.34:0.00,6.34:0.00,0.00:0.00,0.39:0.00,0.39:0.00,0.00:60,60:5.6,36.0:0,0:0,0:56,114:95,37:7,27:-,NM_001144937.1(FNDC7) c.83-218A>G:-,0.8:-,NOT_FOUND 1 109260357 rs4970804 G A 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.4149,A/0.5851;Gene=FNDC7/NM_001144937.1/1;CC=c.83-42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:52:0:0:25,33:831,1027:77.80,0.00:57.28,0.00:20.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,11.2:0,0:0,0:64,50:82,100:28,25:NM_001144937.1(FNDC7) c.83-42G>A,-:0.59,-:0.535042,- 1 109260654 . G . . NT END=109261410;NT GT ./. 1 109261672 . G . . NT END=109264956;NT GT ./. 1 109261850 rs12070845 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9245,A/0.07548;PC=0.004;Gene=FNDC7/NM_001144937.1/1;CC=c.598+179G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:8,7:242,218:23.54,0.00:0.00,0.00:23.54,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.6,7.6:0,0:0,0:105,99:45,52:31,29:NM_001144937.1(FNDC7) c.598+179G>A,-:0.07,-:NOT_FOUND,- 1 109265215 . G . . NT END=109268371;NT GT ./. 1 109265326 rs4970743 G C 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4028,C/0.5972;Gene=FNDC7/NM_001144937.1/1;CC=c.856+112G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:1:0:0:17,20:495,554:46.50,0.00:-0.13,0.00:46.63,0.00:1.00,0.00:0.64,0.00:1.00,0.00:60,60:45.6,22.6:0,0:0,0:98,83:53,66:25,35:NM_001144937.1(FNDC7) c.856+112G>C,-:0.61,-:NOT_FOUND,- 1 109268573 rs4494160 T C 241 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.4071,C/0.5929;PC=1.000;Gene=FNDC7/NM_001144937.1/1;CC=c.1058T>C;ProtCh=p.V353A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:C:64:39:0:0:64:2107:241.13:118.91:122.23:1.00:1.00:1.00:60:38.6:0:0:79:69:36:NM_001144937.1(FNDC7) c.1058T>C (p.Val353Ala),NM_001144937.1(FNDC7) c.1058T>C (p.Val353Ala):0.58,0.58:0.73912,0.73912 1 109268627 . G . . NT END=109270429;NT GT ./. 1 109270688 . G . . NT END=109271253;NT GT ./. 1 109271037 rs17026815 T C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8055,C/0.1945;Gene=FNDC7/NM_001144937.1/1;CC=c.1370-217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:6:0:0:7:239:27.24:23.26:3.98:1.00:1.00:1.00:60:39.9:0:0:44:107:24:NM_001144937.1(FNDC7) c.1370-217T>C,NM_001144937.1(FNDC7) c.1370-217T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 1 109271509 . G . . NT END=109273295;NT GT ./. 1 109271674 rs55891684 T A 67 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.8668,A/0.1332;PC=0.740;Gene=FNDC7/NM_001144937.1/1;CC=c.1624+166T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A,C:19:0:0:0:18,1:590,19:67.16,1.13:0.00,0.00:67.16,1.13:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.7,56.0:0,0:0,0:84,39:65,103:28,0:NM_001144937.1(FNDC7) c.1624+166T>A,NM_001144937.1(FNDC7) c.1624+166T>A:0.13,0.13:NOT_FOUND,NOT_FOUND 1 109273269 rs4622086 A G 128 nt VT=SNV;PN=C;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.9914,G/0.008586;Gene=FNDC7/NM_001144937.1/1;CC=c.1625-27A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:61:0:0:28,42:841,1285:0.00,128.09:0.00,94.70:0.00,33.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,38.7:0,0:0,0:53,57:98,92:39,23:-,NM_001144937.1(FNDC7) c.1625-27A>G:-,0.01:-,0.03237 1 109273551 . G . . NT END=109275893;NT GT ./. 1 109276155 . G . . NT END=109280116;NT GT ./. 1 109276271 rs397981150 CT C 8 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;Gene=FNDC7/NM_001144937.1/1;CC=c.2140+138delT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:CT,T,I,C:12:0:3:5:5,2,2,3:120,23,89,156:0.00,1.27,4.70,7.86:0.00,0.00,0.00,0.00:0.00,1.27,4.70,7.86:0.00,0.00,0.00,0.55:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.55:60,60,60,60:38.4,69.5,36.5,36.3:0,0,1,2:0,0,0,0:112,79,89,100:39,48,62,51:25,13,11,18:-,NM_001144937.1(FNDC7) c.2140+118delT:-,NOT_FOUND:-,NOT_FOUND 1 109280147 . G . . NT END=109284394;NT GT ./. 1 109284427 . C . . NT END=109289359;NT GT ./. 1 109289236 rs1124426 C A 158 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.4129,A/0.5871 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:A:46:46:0:0:46:1362:157.99:148.55:9.44:1.00:1.00:1.00:60:47.2:0:0:50:101:31:NM_007269.2(STXBP3) c.-75-u49C>A,NM_007269.2(STXBP3) c.-75-u49C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 109289353 rs1124427 C G 477 nt VT=SNV;PN=T;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=C/0.4269,G/0.5731;Gene=STXBP3/NM_007269.2/1;CC=c.-7C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:125:100:0:0:125:4173:476.69:262.98:213.71:1.00:1.00:1.00:60:48.9:0:0:66:77:32:NM_007269.2(STXBP3) c.-7C>G,NM_007269.2(STXBP3) c.-7C>G:0.57,0.57:0.772093,0.772093 1 109289409 . G . . NT END=109294878;NT GT ./. 1 109289487 rs6604120 C T 206 nt VT=SNV;PN=C;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.4273,T/0.5727;Gene=STXBP3/NM_007269.2/1;CC=c.49+79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:T:60:10:0:0:60:1779:206.20:26.69:179.51:1.00:1.00:1.00:60:50.1:0:0:119:31:23:NM_007269.2(STXBP3) c.49+79C>T,NM_007269.2(STXBP3) c.49+79C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 109294929 . G . . NT END=109295684;NT GT ./. 1 109295767 . G . . NT END=109299311;NT GT ./. 1 109295950 rs5776944 TA T 42 idl,nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TA/0.4245,T/0.5755;PC=0.005;Gene=STXBP3/NM_007269.2/1;CC=c.181+185delA;VC=Intron;DM=STXBP3/Sec1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:11:11:364:41.65:0.00:41.65:1.00:0.00:1.00:60:31.1:11:0:100:50:19:NM_007269.2(STXBP3) c.181+185delA,NM_007269.2(STXBP3) c.181+185delA:0.55,0.55:NOT_FOUND,NOT_FOUND 1 109295955 rs145002027 TTA T 41 idl,nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TTA/0.4255,T/0.5745;PC=0.004;Gene=STXBP3/NM_007269.2/1;CC=c.181+190_181+191delTA;VC=Intron;DM=STXBP3/Sec1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:11:11:359:41.15:0.00:41.15:1.00:0.00:1.00:60:31.1:11:0:104:46:19:NM_007269.2(STXBP3) c.181+190_181+191delTA,NM_007269.2(STXBP3) c.181+190_181+191delTA:0.55,0.55:NOT_FOUND,NOT_FOUND 1 109295971 rs1333125 A G 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.8355,G/0.1645;PC=0.023;Gene=STXBP3/NM_007269.2/1;CC=c.181+205A>G;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:328:37.57:0.00:37.57:1.00:0.00:1.00:60:34.2:0:0:116:34:19:NM_007269.2(STXBP3) c.181+205A>G,NM_007269.2(STXBP3) c.181+205A>G:0.16,0.16:NOT_FOUND,NOT_FOUND 1 109299389 . G . . NT END=109301131;NT GT ./. 1 109299453 rs1277044 C G 89 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4243,G/0.5757;PC=0.004;Gene=STXBP3/NM_007269.2/1;CC=c.258+65C>G;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:7:0:0:23:782:89.17:17.60:71.57:1.00:1.00:1.00:60:36.3:0:0:109:31:25:NM_007269.2(STXBP3) c.258+65C>G,NM_007269.2(STXBP3) c.258+65C>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 109301211 . G . . NT END=109302606;NT GT ./. 1 109301250 rs1277042 G C 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4245,C/0.5755;Gene=STXBP3/NM_007269.2/1;CC=c.337+40G>C;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:6:0:0:15:495:56.65:19.58:37.07:1.00:1.00:1.00:60:39.7:0:0:93:57:9:NM_007269.2(STXBP3) c.337+40G>C,NM_007269.2(STXBP3) c.337+40G>C:0.57,0.57:0.744199,0.744199 1 109302708 . G . . NT END=109315286;NT GT ./. 1 109315070 rs34629138 A C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8353,C/0.1647;PC=0.938;Gene=STXBP3/NM_007269.2/1;CC=c.439-217A>C;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:46.0:0:0:22:128:8:NM_007269.2(STXBP3) c.439-217A>C,NM_007269.2(STXBP3) c.439-217A>C:0.15,0.15:NOT_FOUND,NOT_FOUND 1 109315211 rs1623641 A G 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4239,G/0.5761;Gene=STXBP3/NM_007269.2/1;CC=c.439-76A>G;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:20:0:0:22:695:79.93:71.98:7.95:1.00:1.00:1.00:60:40.0:0:0:32:117:23:NM_007269.2(STXBP3) c.439-76A>G,NM_007269.2(STXBP3) c.439-76A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 109315442 . G . . NT END=109318954;NT GT ./. 1 109318805 rs1759479 C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3992,T/0.6008;PC=0.068;Gene=STXBP3/NM_007269.2/1;CC=c.594-150C>T;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:41.2:0:0:25:126:13:NM_007269.2(STXBP3) c.594-150C>T,NM_007269.2(STXBP3) c.594-150C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 109319046 . G . . NT END=109321907;NT GT ./. 1 109321824 rs1759481 G T 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4239,T/0.5761;Gene=STXBP3/NM_007269.2/1;CC=c.685-84G>T;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:16:0:0:18:532:61.73:50.60:11.13:1.00:1.00:1.00:60:35.2:0:0:38:111:20:NM_007269.2(STXBP3) c.685-84G>T,NM_007269.2(STXBP3) c.685-84G>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 109322033 . G . . NT END=109325043;NT GT ./. 1 109322297 rs1690734 G T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4239,T/0.5761;PC=0.002;Gene=STXBP3/NM_007269.2/1;CC=c.809+265G>T;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:170:19.38:0.00:19.38:1.00:0.00:1.00:60:38.0:0:0:104:47:14:NM_007269.2(STXBP3) c.809+265G>T,NM_007269.2(STXBP3) c.809+265G>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 109325028 rs1277051 T C 224 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.8351,C/0.1649;PC=0.001;Gene=STXBP3/NM_007269.2/1;CC=c.810-16T>C;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:C:61:52:0:0:61:1947:223.74:163.16:60.57:1.00:1.00:1.00:60:36.9:0:0:47:104:29:NM_007269.2(STXBP3) c.810-16T>C,NM_007269.2(STXBP3) c.810-16T>C:0.16,0.16:0.242119,0.242119 1 109325140 . G . . NT END=109325270;NT GT ./. 1 109325329 . G . . NT END=109336203;NT GT ./. 1 109325436 rs1298092 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4075,C/0.5925;Gene=STXBP3/NM_007269.2/1;CC=c.963+108T>C;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:308:35.95:0.00:35.95:1.00:0.00:1.00:60:43.5:0:0:74:77:43:NM_007269.2(STXBP3) c.963+108T>C,NM_007269.2(STXBP3) c.963+108T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 109325549 rs2934742 T G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4131,G/0.5869;PC=0.001;Gene=STXBP3/NM_007269.2/1;CC=c.963+221T>G;VC=Intron;DM=STXBP3/Sec1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:64.2:0:0:133:17:5:NM_007269.2(STXBP3) c.963+221T>G,NM_007269.2(STXBP3) c.963+221T>G:0.58,0.58:NOT_FOUND,NOT_FOUND 1 109336270 . G . . NT END=109337448;NT GT ./. 1 109337530 . G . . NT END=109338855;NT GT ./. 1 109338995 . G . . NT END=109339241;NT GT ./. 1 109339349 . G . . NT END=109340766;NT GT ./. 1 109340860 . G . . NT END=109342841;NT GT ./. 1 109342928 . G . . NT END=109350022;NT GT ./. 1 109349996 . CT C 11 idl,rn VT=DEL;SST=Single;DP=61;NP=10;Gene=STXBP3/NM_007269.2/1;CC=c.1536-15delT;VC=Intron;DM=STXBP3/Sec1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:CT,I,C:60:53:4:5:52,3,5:1638,123,157:0.00,5.38,10.73:0.00,4.39,5.76:0.00,1.00,4.98:0.00,0.00,0.69:0.00,0.00,0.95:0.00,0.00,0.69:60,60,60:17.9,28.0,12.4:0,1,0:0,0,0:57,50,24:92,100,89:29,8,17:-,NM_007269.2(STXBP3) c.1536-26delT:-,NOT_FOUND:-,0.034524 1 109350172 . G . . NT END=109351404;NT GT ./. 1 109350198 . G GT 28 idl,rn VT=INS;SST=Single;DP=66;NP=2;PC=0.051;Gene=STXBP3/NM_007269.2/1;CC=c.1684+44_1684+45insT;VC=Intron;DM=STXBP3/Sec1;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,GT,D:60:20:15:3:2,43,3,11,1:20,1296,53,471,91:-0.07,0.00,2.25,28.30,1.68:-0.14,0.00,-0.21,5.32,0.91:0.07,0.00,2.46,22.99,0.77:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,0.94,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:139.5,16.8,143.0,19.9,38.0:0,0,1,4,2:0,0,0,0,0:84,110,100,109,60:56,26,47,42,91:38,21,21,9,26:-,NM_007269.2(STXBP3) c.1684+27_1684+28insT:-,NOT_FOUND:-,NOT_FOUND 1 109351500 . C . . NT END=109358792;NT GT ./. 1 109358925 . C . . NT END=109359669;NT GT ./. 1 109358958 rs6696787 T C 243 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.8437,C/0.1563;Gene=AKNAD1/NM_152763.4/1;CC=c.2380-34A>G;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:C:62:21:0:0:62:2134:242.97:53.29:189.68:1.00:1.00:1.00:60:37.2:0:0:78:65:29:NM_152763.4(AKNAD1) c.2380-34A>G,NM_152763.4(AKNAD1) c.2380-34A>G:0.16,0.16:0.210595,0.210595 1 109359490 rs1277214 A G 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4447,G/0.5553;PC=0.001;Gene=AKNAD1/NM_152763.4/1;CC=c.2379+180T>C;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:436:49.80:49.80:0.00:1.00:1.00:0.00:60:74.3:0:0:60:90:48:NM_152763.4(AKNAD1) c.2379+180T>C,NM_152763.4(AKNAD1) c.2379+180T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 109359502 rs1277213 A G 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4433,G/0.5567;Gene=AKNAD1/NM_152763.4/1;CC=c.2379+168T>C;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:15:0:0:15:459:52.99:52.99:0.00:1.00:1.00:0.00:60:71.9:0:0:55:96:44:NM_152763.4(AKNAD1) c.2379+168T>C,NM_152763.4(AKNAD1) c.2379+168T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 109359800 . C . . NT END=109363166;NT GT ./. 1 109360104 rs386368009 C CT 18 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;NP=28;PC=0.010;Gene=AKNAD1/NM_152763.4/1;CC=c.2250-306_2250-305insA;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,T,CT:9:0:6:0:1,2,6:34,23,167:0.00,1.85,18.02:0.00,0.00,0.00:0.00,1.85,18.02:0.00,0.00,0.99:0.00,0.00,0.00:0.00,0.00,0.99:60,60,60:0.0,106.0,37.3:0,0,0:0,0,0:145,99,112:6,49,36:0,11,5:-,NM_152763.4(AKNAD1) c.2250-306_2250-305insA:-,NOT_FOUND:-,NOT_FOUND 1 109363249 . C . . NT END=109365991;NT GT ./. 1 109366100 . C . . NT END=109366187;NT GT ./. 1 109366311 . C . . NT END=109369826;NT GT ./. 1 109366370 rs7522260 C T 202 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.528,T/0.472;Gene=AKNAD1/NM_152763.4/1;CC=c.1937-60G>A;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:18:0:0:54:1766:202.28:46.02:156.26:1.00:1.00:1.00:60:44.4:0:0:86:65:30:NM_152763.4(AKNAD1) c.1937-60G>A,NM_152763.4(AKNAD1) c.1937-60G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 1 109369609 rs11102504 C A 17 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7698,A/0.2302;Gene=AKNAD1/NM_152763.4/1;CC=c.1936+218G>T;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:145:16.85:14.86:1.99:1.00:1.00:1.00:60:41.2:0:0:39:110:32:NM_152763.4(AKNAD1) c.1936+218G>T,NM_152763.4(AKNAD1) c.1936+218G>T:0.24,0.24:NOT_FOUND,NOT_FOUND 1 109369791 rs11102505 G A 135 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.7704,A/0.2296;Gene=AKNAD1/NM_152763.4/1;CC=c.1936+36C>T;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:36:0:0:38:1170:134.99:115.11:19.87:1.00:1.00:1.00:60:79.0:0:0:46:104:31:NM_152763.4(AKNAD1) c.1936+36C>T,NM_152763.4(AKNAD1) c.1936+36C>T:0.24,0.24:0.275684,0.275684 1 109369797 rs11102506 T G 142 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.4928,A/.,G/0.5072;Gene=AKNAD1/NM_152763.4/1;CC=c.1936+30A>C;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G:38:36:0:0:38:1240:142.09:119.94:22.15:1.00:1.00:1.00:60:78.0:0:0:52:98:30:NM_152763.4(AKNAD1) c.1936+30A>C,NM_152763.4(AKNAD1) c.1936+30A>C:0.51,0.51:0.625807,0.625807 1 109369915 rs7551421 G T 179 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.4968,T/0.5032;Gene=AKNAD1/NM_152763.4/1;CC=c.1848C>A;ProtCh=p.N616K;VC=Missense;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:22:0:0:47:1569:179.29:51.47:127.82:1.00:1.00:1.00:60:50.9:0:0:99:50:34:NM_152763.4(AKNAD1) c.1848C>A (p.Asn616Lys),NM_152763.4(AKNAD1) c.1848C>A (p.Asn616Lys):0.51,0.51:0.614965,0.614965 1 109369925 . C . . NT END=109373180;NT GT ./. 1 109373273 . C . . NT END=109377068;NT GT ./. 1 109373446 rs1277220 G A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2019,A/0.7981;Gene=AKNAD1/NM_152763.4/1;CC=c.1747-174C>T;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:168:19.59:0.00:19.59:1.00:0.00:1.00:60:46.0:0:0:109:42:11:NM_152763.4(AKNAD1) c.1747-174C>T,NM_152763.4(AKNAD1) c.1747-174C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 109377070 rs12060255 C A 79 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.867,A/0.133;PC=0.007;Gene=AKNAD1/NM_152763.4/1;CC=c.1745G>T;ProtCh=p.G582V;VC=Missense;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:51:38:0:0:25,25,1:819,787,10:78.76,0.00,-0.04:44.12,0.00,-0.12:34.65,0.00,0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.3,9.8,79.0:0,0,0:0,0,0:70,39,46:81,111,86:33,29,0:NM_152763.4(AKNAD1) c.1745G>T (p.Gly582Val),-:0.14,-:0.137859,- 1 109377151 . C . . NT END=109377550;NT GT ./. 1 109377157 rs5776951 TA T,TAA 57 idl,nt VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1086 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:102:TA,TAA,T:44:28:15:22:12,14,18:338,459,707:0.00,40.51,56.79:0.00,10.29,27.02:0.00,30.22,29.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:34.9,40.6,1.8:0,1,4:0,0,0:113,105,84:14,46,47:16,26,27:NM_152763.4(AKNAD1) c.1665-8delT,NM_152763.4(AKNAD1) c.1665-8dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 109377283 rs12063387 A G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8628,G/0.1372;Gene=AKNAD1/NM_152763.4/1;CC=c.1665-133T>C;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:17:8:0:0:14,3:454,103:0.00,8.29:0.00,2.63:0.00,5.66:0.00,0.53:0.00,0.74:0.00,0.77:60,60:7.6,50.0:0,0:0,0:65,118:85,33:35,27:-,NM_152763.4(AKNAD1) c.1665-133T>C:-,0.14:-,NOT_FOUND 1 109377334 rs12061417 C T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.868,T/0.132;PC=0.001;Gene=AKNAD1/NM_152763.4/1;CC=c.1665-184G>A;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:22:17:0:0:16,6:482,184:0.00,15.67:0.00,16.36:0.00,-0.69:0.00,0.93:0.00,0.99:0.00,0.78:60,60:9.8,49.0:0,0:0,0:63,26:88,124:43,13:-,NM_152763.4(AKNAD1) c.1665-184G>A:-,0.14:-,NOT_FOUND 1 109377537 rs12057309 G A 180 nt VT=SNV;PN=A;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.872,A/0.128;Gene=AKNAD1/NM_152763.4/1;CC=c.1664+14C>T;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:137:118:0:0:61,1,75:1914,10,2522:179.80,-0.16,0.00:125.01,-0.06,0.00:54.79,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.3,176.0,4.3:0,0,0:0,0,0:42,42,62:99,102,83:25,0,31:NM_152763.4(AKNAD1) c.1664+14C>T,-:0.13,-:0.134476,- 1 109377679 . C . . NT END=109380171;NT GT ./. 1 109380329 . C . . NT END=109385755;NT GT ./. 1 109385463 rs12075148 A C 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8658,C/0.1342;PC=0.005;Gene=AKNAD1/NM_152763.4/1;CC=c.1379+293T>G;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,C:7:7:0:0:4,3:136,95:0.00,8.85:0.00,8.85:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:32.0,47.3:0,0:0,0:86,41:64,110:41,33:-,NM_152763.4(AKNAD1) c.1379+293T>G:-,0.13:-,NOT_FOUND 1 109385890 . C . . NT END=109391373;NT GT ./. 1 109391437 . C . . NT END=109391533;NT GT ./. 1 109391486 rs1149142 G A 251 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.01138,A/0.9886,T/.;PC=0.034;Gene=AKNAD1/NM_152763.4/1;CC=c.1182+48C>T;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding;DM=AKNAD1/AKNA;DM=AKNAD1/AKNA;DM=AKNAD1/AKNA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:A,T:69:47:0:0:68,1:2188,10:250.80,0.13:129.39,0.13:121.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,75.0:0,0:0,0:78,127:71,24:48,0:NM_152763.4(AKNAD1) c.1182+48C>T,NM_152763.4(AKNAD1) c.1182+48C>T:0.99,0.99:0.987767,0.987767 1 109391683 . C . . NT END=109392158;NT GT ./. 1 109391961 rs1277201 T G 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1693,G/0.8307;Gene=AKNAD1/NM_152763.4/1;CC=c.1033+198A>C;VC=Intron;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding;DM=AKNAD1/AKNA;DM=AKNAD1/AKNA;DM=AKNAD1/AKNA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:177:20.53:16.85:3.68:1.00:1.00:1.00:60:47.7:0:0:137:14:5:NM_152763.4(AKNAD1) c.1033+198A>C,NM_152763.4(AKNAD1) c.1033+198A>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 109392199 . C . . NT END=109394293;NT GT ./. 1 109395105 rs1277207 C T 322 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.133,T/0.867;Gene=AKNAD1/NM_152763.4/1;CC=c.182G>A;ProtCh=p.S61N;VC=Missense;Gene=AKNAD1/NR_049760.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:90:57:0:0:1,89:19,2802:0.55,322.01:0.55,153.80:0.00,168.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:64.0,40.3:0,0:0,0:38,84:87,63:0,35:NM_152763.4(AKNAD1) c.182G>A (p.Ser61Asn),NM_152763.4(AKNAD1) c.182G>A (p.Ser61Asn):0.86,0.86:0.833231,0.833231 1 109395287 . G . . NT END=109428144;NT GT ./. 1 109428201 . G . . NT END=109439485;NT GT ./. 1 109439708 . G . . NT END=109440113;NT GT ./. 1 109440250 . G . . NT END=109440580;NT GT ./. 1 109440724 . G . . NT END=109441263;NT GT ./. 1 109441388 . G . . NT END=109441500;NT GT ./. 1 109441617 . G . . NT END=109444411;NT GT ./. 1 109444568 . G . . NT END=109445747;NT GT ./. 1 109445857 . G . . NT END=109446746;NT GT ./. 1 109446877 . G . . NT END=109456959;NT GT ./. 1 109457031 . G . . NT END=109461234;NT GT ./. 1 109457151 rs11102642 C T 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8087,T/0.1913;PC=0.399;Gene=GPSM2/NM_013296.4/1;CC=c.1263+121C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:7,8:197,256:0.00,24.94:0.00,0.00:0.00,24.94:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.6,45.0:1,0:0,0:120,81:31,69:13,32:-,NM_013296.4(GPSM2) c.1263+121C>T:-,0.22:-,NOT_FOUND 1 109461412 . G . . NT END=109465038;NT GT ./. 1 109465199 . G . . NT END=109466621;NT GT ./. 1 109466837 . G . . NT END=109472322;NT GT ./. 1 109472563 . T . . NT END=109477291;NT GT ./. 1 109472773 rs1051868 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6318,A/0.3682;Gene=GPSM2/NM_013296.4/1;CC=c.*211G>A;VC=3UTR;Gene=CLCC1/NM_001278202.1/0;CC=c.*2396C>T;VC=3UTR;Gene=CLCC1/NM_001278203.1/0;CC=c.*2396C>T;VC=3UTR;Gene=CLCC1/NM_001048210.2/0;CC=c.*2396C>T;VC=3UTR;Gene=CLCC1/NM_015127.4/1;CC=c.*2396C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:10:0:0:0:3,7:99,231:8.68,0.00:0.00,0.00:8.68,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:53.3,15.3:0,0:0,0:110,56:41,95:30,37:NM_001048210.1(CLCC1) c.*2396C>T,-:0.37,-:NOT_FOUND,- 1 109477565 . C . . NT END=109479698;NT GT ./. 1 109480041 . C . . NT END=109482257;NT GT ./. 1 109482405 . C . . NT END=109482666;NT GT ./. 1 109482765 . C . . NT END=109484026;NT GT ./. 1 109483767 rs839549 A C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6647,C/0.3353;Gene=CLCC1/NM_001278202.1/0;CC=c.433+260T>G;VC=Intron;Gene=CLCC1/NM_001278203.1/0;CC=c.340-1363T>G;VC=Intron;Gene=CLCC1/NM_001048210.2/0;CC=c.796+260T>G;VC=Intron;Gene=CLCC1/NM_015127.4/1;CC=c.646+260T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:5:5:0:0:2,3:65,98:0.00,9.77:0.00,9.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:21.0,32.7:0,0:0,0:14,36:136,114:13,11:-,NM_001048210.1(CLCC1) c.796+260T>G:-,0.34:-,NOT_FOUND 1 109484121 . C . . NT END=109486096;NT GT ./. 1 109486196 rs338466 A G 108 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.4617,G/0.5383;Gene=CLCC1/NM_001278202.1/0;CC=c.340-2076T>C;VC=Intron;Gene=CLCC1/NM_001278203.1/0;CC=c.340-3792T>C;VC=Intron;Gene=CLCC1/NM_001048210.2/0;CC=c.603T>C;ProtCh=p.T201=;VC=Silent;Gene=CLCC1/NM_015127.4/1;CC=c.453T>C;ProtCh=p.T151=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:52:0:0:39,37:1322,1133:0.00,107.98:0.00,55.13:0.00,52.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,33.1:0,0:0,0:57,50:83,98:37,27:-,NM_001048210.1(CLCC1) c.603T>C (p.(=)):-,0.54:-,0.594802 1 109486238 . C . . NT END=109486457;NT GT ./. 1 109486240 rs397840046 TA T 115 nt VT=DEL;SST=Single;DP=75;DB;DBA=NA;PAF=TA/0.5164,T/0.4836;DB;DBA=NA;PAF=TA/0.5164,T/0.4836;NP=2440;Gene=CLCC1/NM_001278202.1/0;CC=c.340-2121delT;VC=Intron;Gene=CLCC1/NM_001278203.1/0;CC=c.340-3837delT;VC=Intron;Gene=CLCC1/NM_001048210.2/0;CC=c.562-4delT;VC=Intron;Gene=CLCC1/NM_015127.4/1;CC=c.412-4delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:75:46:0:38:37,38:1103,1190:0.00,114.60:0.00,51.20:0.00,63.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,28.1:0,0:0,0:75,90:64,61:26,28:-,NM_001048210.1(CLCC1) c.562-4delT:-,0.48:-,0.507987 1 109486680 . C . . NT END=109490232;NT GT ./. 1 109486818 rs10776774 A G 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5112,G/0.4888;Gene=CLCC1/NM_001278202.1/0;CC=c.340-2698T>C;VC=Intron;Gene=CLCC1/NM_001278203.1/0;CC=c.339+3415T>C;VC=Intron;Gene=CLCC1/NM_001048210.2/0;CC=c.340-139T>C;VC=Intron;Gene=CLCC1/NM_015127.4/1;CC=c.340-289T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:10:0:0:0:6,4:189,129:0.00,11.89:0.00,0.00:0.00,11.89:0.00,0.84:0.00,0.00:0.00,0.84:60,60:2.5,35.2:0,0:0,0:42,102:109,49:32,29:-,NM_001048210.1(CLCC1) c.340-139T>C:-,0.49:-,NOT_FOUND 1 109490341 . C . . NT END=109492441;NT GT ./. 1 109490457 rs839543 T C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4732,C/0.5268;Gene=CLCC1/NM_001278202.1/0;CC=c.232-117A>G;VC=Intron;Gene=CLCC1/NM_001278203.1/0;CC=c.232-117A>G;VC=Intron;Gene=CLCC1/NM_001048210.2/0;CC=c.232-117A>G;VC=Intron;Gene=CLCC1/NM_015127.4/1;CC=c.232-117A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:12:0:0:0:7,5:234,156:23.20,0.00:0.00,0.00:23.20,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:33.4,6.8:0,0:0,0:114,123:33,27:23,15:NM_001048210.1(CLCC1) c.232-117A>G,-:0.53,-:NOT_FOUND,- 1 109492544 . C . . NT END=109492930;NT GT ./. 1 109493060 . C . . NT END=109514051;NT GT ./. 1 109493134 rs34131552 G GTTA 25 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5901,GTTA/0.4099;DB;DBA=NA;PAF=G/0.5901,GTTA/0.4099;NP=38;PC=0.879;Gene=CLCC1/NM_001048210.2/0;CC=c.-1-75_-1-74insTAA;VC=Intron;Gene=CLCC1/NM_015127.4/1;CC=c.-11-65_-11-64insTAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTTA:34:9:9:0:25,9:798,295:0.00,25.27:0.00,2.27:0.00,23.00:0.00,0.99:0.00,0.91:0.00,1.00:60,70:3.4,0.0:0,0:0,0:110,103:29,48:18,19:-,NM_001048210.1(CLCC1) c.-1-75_-1-74insTAA:-,NOT_FOUND:-,NOT_FOUND 1 109514195 . C . . NT END=109517157;NT GT ./. 1 109514347 rs536912 C A 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2081,A/0.7919;Gene=WDR47/NM_001142550.1/1;CC=c.2642-153G>T;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.2618-153G>T;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.2621-153G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,C,T:19:0:0:0:5,13,1:132,372,10:10.96,0.00,0.07:0.00,0.00,0.00:10.96,0.00,0.07:0.86,0.00,0.00:0.00,0.00,0.00:0.86,0.00,0.00:60,60,60:37.4,6.5,130.0:0,0,0:0,0,0:132,85,111:18,63,40:7,41,0:NM_001142550.1(WDR47) c.2642-153G>T,-:0.78,-:NOT_FOUND,- 1 109517377 . C . . NT END=109524354;NT GT ./. 1 109524487 . C . . NT END=109525230;NT GT ./. 1 109524584 rs487901 C A 57 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8147,A/0.1853;Gene=WDR47/NM_001142550.1/1;CC=c.2291-98G>T;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.2267-98G>T;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.2270-98G>T;VC=Intron;DM=WDR47/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:7:0:0:21,16:580,473:56.96,0.00:11.01,0.00:45.95,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:39.1,11.1:0,0:0,0:114,49:37,101:24,41:NM_001142550.1(WDR47) c.2291-98G>T,-:0.2,-:NOT_FOUND,- 1 109525402 . C . . NT END=109525903;NT GT ./. 1 109526074 . C . . NT END=109529144;NT GT ./. 1 109526249 . A G 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;NP=1;PC=0.039;Gene=WDR47/NM_001142550.1/1;CC=c.1950-176T>C;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.1926-176T>C;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.1929-176T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,G:15:0:0:0:6,9:142,227:0.00,22.61:0.00,0.00:0.00,22.61:0.00,1.00:0.00,0.00:0.00,1.00:60,60:44.5,54.0:0,0:0,0:85,133:65,17:33,15:-,NM_001142550.1(WDR47) c.1950-176T>C:-,NOT_FOUND:-,NOT_FOUND 1 109529303 . C . . NT END=109533875;NT GT ./. 1 109529322 rs61696019 T TAA 115 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.01837,TAA/0.9806;DB;DBA=NA;PAF=T/0.01837,TAA/0.9806,TAAA/.,TGA/0.0009984;NP=3324;PC=0.015;Gene=WDR47/NM_001142550.1/1;CC=c.1792-21_1792-20insTT;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.1768-21_1768-20insTT;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.1771-21_1771-20insTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T,TAA:34:12:33:0:1,33:30,1012:0.00,114.97:0.00,24.75:0.00,90.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.0,10.3:0,0:0,0:144,84:2,58:0,34:NM_001142550.1(WDR47) c.1792-21_1792-20insTT,NM_001142550.1(WDR47) c.1792-21_1792-20insTT:NOT_FOUND,NOT_FOUND:0.980096,0.980096 1 109533952 . C . . NT END=109538201;NT GT ./. 1 109534940 rs337296 G A 158 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.01857,A/0.9814;PC=0.814;Gene=WDR47/NM_001142550.1/1;CC=c.1716-989C>T;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.1692-989C>T;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.1695-989C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A:43:41:0:0:43:1379:158.35:140.52:17.83:1.00:1.00:1.00:60:41.1:0:0:48:103:28:NM_001142550.1(WDR47) c.1716-989C>T,NM_001142550.1(WDR47) c.1716-989C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 109538460 . C . . NT END=109544845;NT GT ./. 1 109538690 rs17038502 T C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5304,C/0.4696;Gene=WDR47/NM_001142550.1/1;CC=c.1458-231A>G;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.1434-231A>G;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.1437-231A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:C,T:10:0:0:0:4,6:138,188:12.79,0.00:0.00,0.00:12.79,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:37.2,6.8:0,0:0,0:125,116:25,34:7,26:NM_001142550.1(WDR47) c.1458-231A>G,-:0.46,-:NOT_FOUND,- 1 109545025 . C . . NT END=109547213;NT GT ./. 1 109545046 rs184606 C T 148 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.01857,T/0.9814;Gene=WDR47/NM_001142550.1/1;CC=c.1279-22G>A;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.1255-22G>A;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.1258-22G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:T:41:9:0:0:41:1286:147.96:22.56:125.40:1.00:1.00:1.00:60:35.4:0:0:100:50:27:NM_001142550.1(WDR47) c.1279-22G>A,NM_001142550.1(WDR47) c.1279-22G>A:0.98,0.98:0.983338,0.983338 1 109545226 rs337297 C T 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.01877,T/0.9812;Gene=WDR47/NM_001142550.1/1;CC=c.1279-202G>A;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.1255-202G>A;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.1258-202G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:179:20.76:0.00:20.76:1.00:0.00:1.00:60:30.2:0:0:54:96:33:NM_001142550.1(WDR47) c.1279-202G>A,NM_001142550.1(WDR47) c.1279-202G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 109547341 . C . . NT END=109553537;NT GT ./. 1 109547603 rs12731105 G A 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1048,A/0.8952;Gene=WDR47/NM_001142550.1/1;CC=c.1152-263C>T;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.1131-266C>T;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.1131-263C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:1:0:0:10:340:38.77:2.04:36.73:1.00:1.00:1.00:60:36.4:0:0:118:33:25:NM_001142550.1(WDR47) c.1152-263C>T,NM_001142550.1(WDR47) c.1152-263C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 1 109554341 . C . . NT END=109556441;NT GT ./. 1 109556548 . C . . NT END=109560139;NT GT ./. 1 109560224 . C . . NT END=109565976;NT GT ./. 1 109560372 rs397981160 AT A 15 idl,rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=AT/0.143,A/0.857;DB;DBA=NA;PAF=AT/0.143,A/0.857;NP=223;PC=0.029;Gene=WDR47/NM_001142550.1/1;CC=c.159-150delA;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.159-150delA;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.159-150delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:AT,A:10:0:0:9:5,5:139,276:0.00,15.00:0.00,0.00:0.00,15.00:0.00,0.90:0.00,0.00:0.00,0.90:60,60:26.4,25.8:0,4:0,0:141,87:10,64:7,37:-,NM_001142550.1(WDR47) c.159-150delA:-,NOT_FOUND:-,NOT_FOUND 1 109566135 . A . . NT END=109607144;NT GT ./. 1 109566388 rs578262 C G 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.01857,G/0.9814;Gene=WDR47/NM_001142550.1/1;CC=c.-9-245G>C;VC=Intron;Gene=WDR47/NM_001142551.1/0;CC=c.-9-245G>C;VC=Intron;Gene=WDR47/NM_014969.5/0;CC=c.-9-245G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:252:28.99:0.00:28.99:1.00:0.00:1.00:60:55.5:0:0:100:50:13:NM_001142550.1(WDR47) c.-9-245G>C,NM_001142550.1(WDR47) c.-9-245G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 109584880 rs170896 T G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1058,G/0.8942 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:221:25.44:25.44:0.00:1.00:1.00:0.00:60:55.0:0:0:70:81:13:NM_001142550.1(WDR47) c.-376-u30A>C,NM_001142550.1(WDR47) c.-376-u30A>C:0.16,0.16:NOT_FOUND,NOT_FOUND 1 109607316 . C . . NT END=109608756;NT GT ./. 1 109608855 . C . . NT END=109617608;NT GT ./. 1 109617688 . C . . NT END=109618542;NT GT ./. 1 109618257 rs673365 C T 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.02796,T/0.972;Gene=TAF13/NM_005645.3/1;CC=c.27+286G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:193:23.04:23.04:0.00:1.00:1.00:0.00:60:50.0:0:0:27:124:22:NM_005645.3(TAF13) c.27+286G>A,NM_005645.3(TAF13) c.27+286G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 109618308 rs34069017 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5242,A/0.4758;Gene=TAF13/NM_005645.3/1;CC=c.27+235C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:6,10:199,270:18.17,0.00:18.17,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:45.2,36.7:0,0:0,0:26,52:125,98:19,26:NM_005645.3(TAF13) c.27+235C>T,-:0.49,-:NOT_FOUND,- 1 109618570 . C . . NT END=109633494;NT GT ./. 1 109633505 . G . . NT END=109635511;NT GT ./. 1 109635644 . G . . NT END=109637038;NT GT ./. 1 109637122 . A . . NT END=109648649;NT GT ./. 1 109648503 . C CA 9 rn VT=INS;SST=Single;DP=8;NP=1;NP=2;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,CA,D:8:8:3:1:4,3,1:133,92,29:0.00,8.54,2.24:0.00,8.54,2.24:0.00,0.00,0.00:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.00,0.00:60,60,60:21.2,28.3,70.0:0,0,0:0,0,0:84,10,25:64,141,126:51,5,0:-,chr1 g.109648503_109648504insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 109648721 . C . . NT END=109649156;NT GT ./. 1 109649282 . C . . NT END=109649628;NT GT ./. 1 109649745 . C . . NT END=109650542;NT GT ./. 1 109650660 . C . . NT END=109656254;NT GT ./. 1 109656300 . C . . NT END=109656805;NT GT ./. 1 109656959 . G . . NT END=109704515;NT GT ./. 1 109704390 rs643197 C G 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.02935,A/.,G/0.9706;Gene=KIAA1324/NM_001267048.1/0;CC=c.154-126C>G;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.-32-2731C>G;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.154-126C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:G,T:31:29:0:0:30,1:798,14:93.25,0.52:85.72,0.00:7.53,0.52:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,109.0:0,0:0,0:49,3:102,148:23,0:NM_020775.4(KIAA1324) c.154-126C>G,NM_020775.4(KIAA1324) c.154-126C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 109704618 rs678238 A G 314 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.004393,G/0.9956;NP=3414;PC=1.000;Gene=KIAA1324/NM_001267048.1/0;CC=c.256A>G;ProtCh=p.I86V;VC=Missense;Gene=KIAA1324/NM_001284352.1/0;CC=c.-32-2503A>G;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.256A>G;ProtCh=p.I86V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:55:0:0:86:2733:314.18:131.02:183.15:1.00:1.00:1.00:60:38.5:0:0:77:67:29:NM_020775.4(KIAA1324) c.=,NM_020775.4(KIAA1324) c.=:1,1:0.995464,0.995464 1 109704637 . G . . NT END=109707120;NT GT ./. 1 109707314 . G . . NT END=109714487;NT GT ./. 1 109707607 rs17033772 C T 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8766,T/0.1234;Gene=KIAA1324/NM_001267048.1/0;CC=c.467+294C>T;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.161+294C>T;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.467+294C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:7:0:0:0:3,4:100,128:0.00,12.63:0.00,0.00:0.00,12.63:0.00,0.90:0.00,0.00:0.00,0.90:60,60:64.7,34.5:0,0:0,0:138,137:13,13:5,0:-,NM_020775.4(KIAA1324) c.467+294C>T:-,0.12:-,NOT_FOUND 1 109714403 rs17014495 C A 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.4748,A/0.5252;Gene=KIAA1324/NM_001267048.1/0;CC=c.468-85C>A;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.162-85C>A;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.468-85C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:44:42:0:0:21,23:688,766:65.59,0.00:63.12,0.00:2.47,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:49.5,4.0:0,0:0,0:82,35:69,107:36,16:NM_020775.4(KIAA1324) c.468-85C>A,-:0.49,-:NOT_FOUND,- 1 109714636 . G . . NT END=109715109;NT GT ./. 1 109714750 rs2297758 T C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.4776,C/0.5224;PC=0.012;Gene=KIAA1324/NM_001267048.1/0;CC=c.615+115T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.309+115T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.615+115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:4:0:0:17,10:501,296:50.45,0.00:2.73,0.00:47.71,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:34.2,33.8:0,0:0,0:110,88:41,62:26,40:NM_020775.4(KIAA1324) c.615+115T>C,-:0.48,-:NOT_FOUND,- 1 109714919 rs2297757 A G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4782,G/0.5218;Gene=KIAA1324/NM_001267048.1/0;CC=c.616-191A>G;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.310-191A>G;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.616-191A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,G:11:7:0:0:8,3:210,80:0.00,6.64:0.00,2.60:0.00,4.04:0.00,0.60:0.00,0.86:0.00,0.72:60,60:25.9,35.0:0,0:0,0:52,81:96,69:25,50:-,NM_020775.4(KIAA1324) c.616-191A>G:-,0.48:-,NOT_FOUND 1 109715191 . G . . NT END=109716095;NT GT ./. 1 109716202 . G . . NT END=109716309;NT GT ./. 1 109716460 . G . . NT END=109727666;NT GT ./. 1 109727422 rs12239846 A G 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6881,G/0.3119;PC=0.002;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-3377A>G;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.647-245A>G;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.953-245A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:60.5:0:0:28:122:11:NM_020775.4(KIAA1324) c.953-245A>G,NM_020775.4(KIAA1324) c.953-245A>G:0.29,0.29:NOT_FOUND,NOT_FOUND 1 109727475 rs649531 T C 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1286,C/0.8714;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-3324T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.647-192T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.953-192T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:200:23.31:23.31:0.00:1.00:1.00:0.00:60:48.9:0:0:52:98:19:NM_020775.4(KIAA1324) c.953-192T>C,NM_020775.4(KIAA1324) c.953-192T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 109727653 rs112642730 CT C 54 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=CT/0.897,C/0.103;NP=832;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-3143delT;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.647-11delT;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.953-11delT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:39:32:0:18:21,18:720,572:0.00,54.09:0.00,35.39:0.00,18.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,3.3:0,0:0,0:41,50:109,92:24,24:-,NM_020775.4(KIAA1324) c.953-13delT:-,0.11:-,0.154792 1 109727756 . G . . NT END=109729170;NT GT ./. 1 109727832 rs12239854 A G 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.8748,G/0.1252;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-2967A>G;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.735+77A>G;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1041+77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:5:0:0:14,8:439,254:0.00,22.94:0.00,3.05:0.00,19.89:0.00,0.99:0.00,0.89:0.00,1.00:60,60:17.1,70.9:0,0:0,0:120,126:23,21:23,13:-,NM_020775.4(KIAA1324) c.1041+77A>G:-,0.13:-,NOT_FOUND 1 109727880 rs41279684 T C 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8782,C/0.1218;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-2919T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.735+125T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1041+125T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:C,G,T:9:0:0:0:3,1,5:92,15,163:8.32,0.79,0.00:0.00,0.00,0.00:8.32,0.79,0.00:0.64,0.00,0.00:0.00,0.00,0.00:0.64,0.00,0.00:60,60,60:86.0,191.0,3.4:0,0,0:0,0,0:115,147,92:35,4,59:25,0,30:NM_020775.4(KIAA1324) c.1041+125T>C,-:0.13,-:NOT_FOUND,- 1 109727965 rs74113785 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8962,C/0.1038;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-2834T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.735+210T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1041+210T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:6:0:0:0:3,3:77,100:7.32,0.00:0.00,0.00:7.32,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:103.0,4.0:0,0:0,0:32,50:119,98:3,42:NM_020775.4(KIAA1324) c.1041+210T>C,-:0.11,-:NOT_FOUND,- 1 109728079 rs74113786 T C 8 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8898,C/0.1102;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-2720T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.735+324T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1041+324T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:5:0:0:0:3,2:77,68:7.67,0.00:0.00,0.00:7.67,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:103.0,0.0:0,0:0,0:147,98:4,52:3,24:NM_020775.4(KIAA1324) c.1041+324T>C,-:0.11,-:NOT_FOUND,- 1 109728977 rs2477363 A G 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1132,G/0.8868;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-1822A>G;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.735+1222A>G;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1041+1222A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,G:14:14:0:0:4,10:134,296:0.00,30.73:0.00,30.73:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.5,40.2:0,0:0,0:60,63:90,87:32,29:-,NM_020775.4(KIAA1324) c.1041+1222A>G:-,0.88:-,NOT_FOUND 1 109729327 rs17642754 G C 172 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.9323,C/0.06769;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-1472G>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.736-1472G>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1042-1472G>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.-939G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:104:64:0:0:54,49,1:1768,1622,12:171.57,0.00,-0.06:95.17,0.00,0.05:76.40,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.1,4.7,71.0:0,0,0:0,0,0:64,72,75:79,79,76:40,47,0:NM_020775.4(KIAA1324) c.1042-1472G>C,-:0.07,-:NOT_FOUND,- 1 109730293 . g . . NT END=109730600;NT GT ./. 1 109730511 rs116416309 T C 95 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.9415,C/0.05851;PC=0.008;Gene=KIAA1324/NM_001267048.1/0;CC=c.781-288T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.736-288T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1042-288T>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.27+219T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:37:0:0:29,12:921,380:95.14,0.00:64.93,0.00:30.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,2.8:0,0:0,0:62,67:78,83:26,37:NM_020775.4(KIAA1324) c.1042-288T>C,-:0.06,-:NOT_FOUND,- 1 109730977 . G . . NT END=109731687;NT GT ./. 1 109731817 . G . . NT END=109732213;NT GT ./. 1 109732305 . G . . NT END=109733987;NT GT ./. 1 109732387 rs17034092 G C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.9277,C/0.07228;PC=0.004;Gene=KIAA1324/NM_001267048.1/0;CC=c.1178+83G>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1133+83G>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1439+83G>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.425+83G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:3:0:0:10,11:301,357:28.56,0.00:3.23,0.00:25.32,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:31.1,5.9:0,0:0,0:76,84:74,66:37,30:NM_020775.4(KIAA1324) c.1439+83G>C,-:0.08,-:NOT_FOUND,- 1 109734094 . G . . NT END=109734347;NT GT ./. 1 109734157 rs606066 T C 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.2356,C/0.7644;Gene=KIAA1324/NM_001267048.1/0;CC=c.1284+64T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1239+64T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1545+64T>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.531+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:11:0:0:24,15:775,473:77.64,0.00:16.71,0.00:60.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.9,3.6:0,0:0,0:69,107:81,41:32,33:NM_020775.4(KIAA1324) c.1545+64T>C,-:0.77,-:NOT_FOUND,- 1 109734225 rs643785 G T 73 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.2688,T/0.7312;Gene=KIAA1324/NM_001267048.1/0;CC=c.1285-123G>T;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1240-123G>T;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1546-123G>T;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.532-123G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:23:0:0:17,23:581,740:0.00,73.12:0.00,24.64:0.00,48.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,57.3:0,0:0,0:27,81:124,70:23,44:-,NM_020775.4(KIAA1324) c.1546-123G>T:-,0.75:-,NOT_FOUND 1 109734486 . G . . NT END=109735232;NT GT ./. 1 109734541 rs645128 C T 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.1274,T/0.8726;Gene=KIAA1324/NM_001267048.1/0;CC=c.1422+56C>T;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1377+56C>T;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1683+56C>T;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.669+56C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:17:0:0:19,24:623,756:0.00,74.23:0.00,20.93:0.00,53.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,36.9:0,0:0,0:103,106:46,42:16,21:-,NM_020775.4(KIAA1324) c.1683+56C>T:-,0.87:-,NOT_FOUND 1 109735298 rs658779 T C 126 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.2584,C/0.7416;Gene=KIAA1324/NM_001267048.1/0;CC=c.1488T>C;ProtCh=p.G496=;VC=Silent;Gene=KIAA1324/NM_001284352.1/0;CC=c.1443T>C;ProtCh=p.G481=;VC=Silent;Gene=KIAA1324/NM_020775.4/1;CC=c.1749T>C;ProtCh=p.G583=;VC=Silent;Gene=KIAA1324/NM_001284353.1/0;CC=c.735T>C;ProtCh=p.G245=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:87:63:0:0:41,46:1325,1491:125.85,0.00:75.11,0.00:50.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.6,8.0:0,0:0,0:61,52:87,98:37,29:NM_020775.4(KIAA1324) c.1749T>C (p.(=)),-:0.75,-:0.636475,- 1 109735416 rs659543 A C 144 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.26,C/0.74,G/.;Gene=KIAA1324/NM_001267048.1/0;CC=c.1606A>C;ProtCh=p.T536P;VC=Missense;Gene=KIAA1324/NM_001284352.1/0;CC=c.1561A>C;ProtCh=p.T521P;VC=Missense;Gene=KIAA1324/NM_020775.4/1;CC=c.1867A>C;ProtCh=p.T623P;VC=Missense;Gene=KIAA1324/NM_001284353.1/0;CC=c.853A>C;ProtCh=p.T285P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:103:76:0:0:57,46:1773,1525:0.00,143.74:0.00,72.49:0.00,71.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,55.4:0,0:0,0:68,79:66,70:41,34:-,NM_020775.4(KIAA1324) c.1867A>C (p.Thr623Pro):-,0.75:-,0.636322 1 109735497 . G . . NT END=109737042;NT GT ./. 1 109735504 rs659659 T C 101 nt VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.2586,C/0.7414;Gene=KIAA1324/NM_001267048.1/0;CC=c.1686+8T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1641+8T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.1947+8T>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.933+8T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:40:0:0:32,44:1085,1387:101.29,0.00:28.50,0.00:72.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.5,9.1:0,0:0,0:99,94:47,52:27,23:NM_020775.4(KIAA1324) c.1947+8T>C,-:0.75,-:0.636552,- 1 109737063 rs2359246 C T 86 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.2863,T/0.7137;Gene=KIAA1324/NM_001267048.1/0;CC=c.1707C>T;ProtCh=p.N569=;VC=Silent;Gene=KIAA1324/NM_001284352.1/0;CC=c.1662C>T;ProtCh=p.N554=;VC=Silent;Gene=KIAA1324/NM_020775.4/1;CC=c.1968C>T;ProtCh=p.N656=;VC=Silent;Gene=KIAA1324/NM_001284353.1/0;CC=c.954C>T;ProtCh=p.N318=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:66:0:0:50,29:1653,946:0.00,85.88:0.00,59.88:0.00,26.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,91.8:0,0:0,0:56,65:90,84:29,32:-,NM_020775.4(KIAA1324) c.1968C>T (p.(=)):-,0.73:-,0.626634 1 109737090 rs2359245 G A 91 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.2847,A/0.7153;Gene=KIAA1324/NM_001267048.1/0;CC=c.1734G>A;ProtCh=p.P578=;VC=Silent;Gene=KIAA1324/NM_001284352.1/0;CC=c.1689G>A;ProtCh=p.P563=;VC=Silent;Gene=KIAA1324/NM_020775.4/1;CC=c.1995G>A;ProtCh=p.P665=;VC=Silent;Gene=KIAA1324/NM_001284353.1/0;CC=c.981G>A;ProtCh=p.P327=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:83:59:0:0:31,52:1000,1636:90.97,0.00:44.57,0.00:46.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:102.9,4.8:0,0:0,0:69,61:82,86:35,32:NM_020775.4(KIAA1324) c.1995G>A (p.(=)),-:0.73,-:0.627403,- 1 109737132 rs2359244 T C 94 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.2334,C/0.7666;Gene=KIAA1324/NM_001267048.1/0;CC=c.1776T>C;ProtCh=p.T592=;VC=Silent;Gene=KIAA1324/NM_001284352.1/0;CC=c.1731T>C;ProtCh=p.T577=;VC=Silent;Gene=KIAA1324/NM_020775.4/1;CC=c.2037T>C;ProtCh=p.T679=;VC=Silent;Gene=KIAA1324/NM_001284353.1/0;CC=c.1023T>C;ProtCh=p.T341=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:62:0:0:33,55:1036,1844:94.07,0.00:41.81,0.00:52.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:105.4,4.7:0,0:0,0:78,90:73,59:28,33:NM_020775.4(KIAA1324) c.2037T>C (p.(=)),-:0.76,-:0.667999,- 1 109737172 rs2359243 C T 86 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.2859,T/0.7141;PC=0.419;Gene=KIAA1324/NM_001267048.1/0;CC=c.1816C>T;ProtCh=p.L606=;VC=Silent;Gene=KIAA1324/NM_001284352.1/0;CC=c.1771C>T;ProtCh=p.L591=;VC=Silent;Gene=KIAA1324/NM_020775.4/1;CC=c.2077C>T;ProtCh=p.L693=;VC=Silent;Gene=KIAA1324/NM_001284353.1/0;CC=c.1063C>T;ProtCh=p.L355=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:47:0:0:49,30:1612,947:0.00,86.25:0.00,35.23:0.00,51.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,89.6:0,0:0,0:87,94:63,51:33,38:-,NM_020775.4(KIAA1324) c.2077C>T (p.(=)):-,0.73:-,0.626711 1 109737217 . G . . NT END=109740095;NT GT ./. 1 109737314 rs2359242 T C 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2841,C/0.7159;Gene=KIAA1324/NM_001267048.1/0;CC=c.1860+98T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1815+98T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2121+98T>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1107+98T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:2:0:0:12,15:403,486:37.97,0.00:5.04,0.00:32.93,0.00:1.00,0.00:0.74,0.00:1.00,0.00:60,60:71.8,3.1:0,0:0,0:126,106:24,45:10,17:NM_020775.4(KIAA1324) c.2121+98T>C,-:0.74,-:NOT_FOUND,- 1 109737320 rs2359241 G A 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.2843,A/0.7157;Gene=KIAA1324/NM_001267048.1/0;CC=c.1860+104G>A;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1815+104G>A;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2121+104G>A;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1107+104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:1:0:0:10,13:343,385:32.24,0.00:3.51,0.00:28.72,0.00:1.00,0.00:0.62,0.00:1.00,0.00:60,60:73.7,3.6:0,0:0,0:124,108:25,43:13,13:NM_020775.4(KIAA1324) c.2121+104G>A,-:0.73,-:NOT_FOUND,- 1 109740277 . G . . NT END=109740600;NT GT ./. 1 109740310 rs5776967 A AGAGAGAGAGTGT 27 idl,nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7085,AGAGAGAGTGT/.,AGAGAGAGTGTGT/0.2915,AGT/.;DB;DBA=NA;PAF=NA;NP=13;Gene=KIAA1324/NM_001267048.1/0;CC=c.2041+35_2041+36insAGAGAGAGTGTG;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1996+35_1996+36insAGAGAGAGTGTG;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2302+35_2302+36insAGAGAGAGTGTG;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1288+35_1288+36insAGAGAGAGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGAGAGAGAGTGT,D:29:16:15:3:18,9,2:533,494,94:0.00,26.74,4.01:0.00,3.98,1.13:0.00,22.76,2.88:0.00,0.99,0.00:0.00,0.97,0.00:0.00,1.00,0.00:60,60,60:24.0,40.0,0.0:0,6,1:0,0,0:115,75,103:31,76,41:22,23,11:-,NM_020775.4(KIAA1324) c.2302+34_2302+35insGAGAGAGAGTGT:-,NOT_FOUND:-,NOT_FOUND 1 109740364 rs17014532 T G 36 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6428,G/0.3572;Gene=KIAA1324/NM_001267048.1/0;CC=c.2041+88T>G;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1996+88T>G;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2302+88T>G;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1288+88T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:24:5:0:0:12,12:378,366:36.29,0.00:6.88,0.00:29.40,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:60.0,2.4:0,0:0,0:105,121:46,29:27,20:NM_020775.4(KIAA1324) c.2302+88T>G,-:0.34,-:NOT_FOUND,- 1 109740548 rs2296696 G T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.656,T/0.344;PC=0.042;Gene=KIAA1324/NM_001267048.1/0;CC=c.2042-53G>T;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.1997-53G>T;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2303-53G>T;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1289-53G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:45:40:0:0:28,17:925,559:0.00,51.06:0.00,40.27:0.00,10.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,32.9:0,0:0,0:45,40:106,111:35,23:-,NM_020775.4(KIAA1324) c.2303-53G>T:-,0.33:-,0.242882 1 109740698 . G . . NT END=109741194;NT GT ./. 1 109741297 . G . . NT END=109742475;NT GT ./. 1 109741516 rs10858081 A C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1188,C/0.8812;Gene=KIAA1324/NM_001267048.1/0;CC=c.2240+220A>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.2195+220A>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2501+220A>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1487+220A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:157:18.08:0.00:18.08:1.00:0.00:1.00:60:49.4:0:0:99:52:44:NM_020775.4(KIAA1324) c.2501+220A>C,NM_020775.4(KIAA1324) c.2501+220A>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 109742452 rs913178 C T 238 nt VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.2422,T/0.7578;Gene=KIAA1324/NM_001267048.1/0;CC=c.2241-24C>T;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.2196-24C>T;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2502-24C>T;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1488-24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:60:0:0:68:2061:238.32:181.83:56.49:1.00:1.00:1.00:60:72.3:0:0:53:93:35:NM_020775.4(KIAA1324) c.2502-24C>T,NM_020775.4(KIAA1324) c.2502-24C>T:0.77,0.77:0.700523,0.700523 1 109742485 rs913179 G A 315 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.2412,A/0.7588;Gene=KIAA1324/NM_001267048.1/0;CC=c.2250G>A;ProtCh=p.S750=;VC=Silent;Gene=KIAA1324/NM_001284352.1/0;CC=c.2205G>A;ProtCh=p.S735=;VC=Silent;Gene=KIAA1324/NM_020775.4/1;CC=c.2511G>A;ProtCh=p.S837=;VC=Silent;Gene=KIAA1324/NM_001284353.1/0;CC=c.1497G>A;ProtCh=p.S499=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:83:70:0:0:83:2758:315.32:214.20:101.12:1.00:1.00:1.00:60:61.6:0:0:57:94:31:NM_020775.4(KIAA1324) c.2511G>A (p.(=)),NM_020775.4(KIAA1324) c.2511G>A (p.(=)):0.77,0.77:0.700984,0.700984 1 109742603 . G . . NT END=109742680;NT GT ./. 1 109742860 . G . . NT END=109743356;NT GT ./. 1 109743081 rs10745350 G A 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1186,A/0.8814;Gene=KIAA1324/NM_001267048.1/0;CC=c.2546+222G>A;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.2501+222G>A;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2807+222G>A;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1793+222G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:3:0:0:10:309:35.65:10.63:25.02:1.00:1.00:1.00:60:70.5:0:0:78:63:35:NM_020775.4(KIAA1324) c.2807+222G>A,NM_020775.4(KIAA1324) c.2807+222G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 109743122 rs10745351 T C 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1194,C/0.8806;Gene=KIAA1324/NM_001267048.1/0;CC=c.2547-235T>C;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.2502-235T>C;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2808-235T>C;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1794-235T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:6:0:0:11:313:36.51:20.63:15.88:1.00:1.00:1.00:60:67.6:0:0:76:74:44:NM_020775.4(KIAA1324) c.2808-235T>C,NM_020775.4(KIAA1324) c.2808-235T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 109743523 . G . . NT END=109745534;NT GT ./. 1 109743622 rs3736956 C T 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6332,T/0.3668;Gene=KIAA1324/NM_001267048.1/0;CC=c.2712+100C>T;VC=Intron;Gene=KIAA1324/NM_001284352.1/0;CC=c.2667+100C>T;VC=Intron;Gene=KIAA1324/NM_020775.4/1;CC=c.2973+100C>T;VC=Intron;Gene=KIAA1324/NM_001284353.1/0;CC=c.1959+100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:2:0:0:12,7:353,212:0.00,19.10:0.00,-0.30:0.00,19.40:0.00,0.98:0.00,0.67:0.00,1.00:60,60:6.4,39.1:0,0:0,0:115,88:35,62:26,28:-,NM_020775.4(KIAA1324) c.2973+100C>T:-,0.39:-,NOT_FOUND 1 109745618 rs1052878 T C 187 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.1096,C/0.8904;PC=0.427;Gene=KIAA1324/NM_001267048.1/0;CC=c.2765T>C;ProtCh=p.L922P;VC=Missense;Gene=KIAA1324/NM_001284352.1/0;CC=c.*42T>C;VC=3UTR;Gene=KIAA1324/NM_020775.4/1;CC=c.3026T>C;ProtCh=p.L1009P;VC=Missense;Gene=KIAA1324/NM_001284353.1/0;CC=c.2012T>C;ProtCh=p.L671P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:31:0:0:51:1630:187.17:79.14:108.03:1.00:1.00:1.00:60:40.0:0:0:86:64:26:NM_020775.4(KIAA1324) c.3026T>C (p.Leu1009Pro),NM_020775.4(KIAA1324) c.3026T>C (p.Leu1009Pro):0.88,0.88:0.852914,0.852914 1 109745635 . G . . NT END=109756614;NT GT ./. 1 109756751 . G . . NT END=109757168;NT GT ./. 1 109758339 . t . . NT END=109758605;NT GT ./. 1 109759271 . a . . NT END=109759522;NT GT ./. 1 109759805 . g . . NT END=109766599;NT GT ./. 1 109759998 rs2924 A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6084,G/0.3916;PC=0.208;Gene=SARS/NR_034072.1/0;VC=NonCoding;Gene=SARS/NM_006513.3/1;CC=c.136+3248A>G;VC=Intron;DM=SARS/Seryl_tRNA_N;DM=SARS/Seryl_tRNA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:9:0:0:0:6,3:194,93:0.00,8.24:0.00,0.00:0.00,8.24:0.00,0.64:0.00,0.00:0.00,0.64:60,60:0.0,49.7:0,0:0,0:78,115:72,36:24,3:-,NM_006513.3(SARS) c.136+3248A>G:-,0.43:-,NOT_FOUND 1 109766671 . G . . NT END=109770973;NT GT ./. 1 109771055 . G . . NT END=109772035;NT GT ./. 1 109771063 rs683182 T C 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.3201,C/0.6799;Gene=SARS/NM_006513.3/1;CC=c.288+9T>C;VC=Intron;DM=SARS/Seryl_tRNA_N;DM=SARS/Seryl_tRNA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:14:0:0:16,17:559,518:53.62,0.00:24.53,0.00:29.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,11.0:0,0:0,0:104,115:45,33:10,14:NM_006513.3(SARS) c.288+9T>C,-:0.73,-:0.691758,- 1 109771881 rs657511 G T 90 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.01118,T/0.9888;PC=0.002;Gene=SARS/NM_006513.3/1;CC=c.289-155G>T;VC=Intron;DM=SARS/Seryl_tRNA_N;DM=SARS/Seryl_tRNA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:25:0:0:25:779:89.82:89.82:0.00:1.00:1.00:0.00:60:51.0:0:0:42:109:25:NM_006513.3(SARS) c.289-155G>T,NM_006513.3(SARS) c.289-155G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 109772195 . G . . NT END=109773499;NT GT ./. 1 109773427 . CA C 12 idl,rn VT=DEL;SST=Single;DP=51;NP=25;PC=0.005;Gene=SARS/NM_006513.3/1;CC=c.448-61delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,CA,G,I,C:49:49:4:7:2,37,1,4,5:43,1119,5,121,227:2.04,0.00,-0.28,8.28,11.99:1.78,0.00,-0.25,7.15,10.64:0.25,0.00,-0.03,1.13,1.35:0.00,0.00,0.00,0.00,0.72:0.00,0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.00,0.58:60,60,60,60,60:188.5,10.1,148.0,14.0,16.8:1,0,0,0,2:0,0,0,0,0:58,53,45,14,25:92,97,88,128,118:2,38,0,6,21:-,NM_006513.3(SARS) c.448-72delA:-,NOT_FOUND:-,NOT_FOUND 1 109773644 . G . . NT END=109774252;NT GT ./. 1 109773705 rs61633547 ATT A 59 idl,rn VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ATT/0.2382,A/0.7618;NP=22;PC=0.245;Gene=SARS/NM_006513.3/1;CC=c.591+76_591+77delTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATT,T,A:62:30:0:34:39,1,22:1203,33,929:0.00,1.69,59.42:0.00,1.87,16.80:0.00,-0.18,42.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:38.0,33.0,40.5:2,0,10:0,0,0:120,137,88:29,14,61:20,0,32:-,NM_006513.3(SARS) c.591+63_591+64delTT:-,NOT_FOUND:-,NOT_FOUND 1 109773707 rs75028309 T A 73 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=39;PC=0.245;Gene=SARS/NM_006513.3/1;CC=c.591+64T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:43:13:0:30:23,20:747,593:72.80,0.00:10.71,0.00:62.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.7,29.1:0,3:0,0:119,111:32,32:23,31:NM_006513.3(SARS) c.591+64T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 109774026 rs600711 G A 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2149,A/0.7851;Gene=SARS/NM_006513.3/1;CC=c.592-227G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:9:0:0:11:301:35.25:29.52:5.73:1.00:1.00:1.00:60:50.7:0:0:33:114:12:NM_006513.3(SARS) c.592-227G>A,NM_006513.3(SARS) c.592-227G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 109774409 . G . . NT END=109777831;NT GT ./. 1 109778054 . G . . NT END=109778598;NT GT ./. 1 109778577 rs658092 T C 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.3107,C/0.6893;PC=0.030;Gene=SARS/NM_006513.3/1;CC=c.970-22T>C;VC=Intron;DM=SARS/tRNA-synt_2b;DM=SARS/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:37:0:0:18,32:629,992:57.32,0.00:45.60,0.00:11.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,4.9:0,0:0,0:65,67:86,79:30,33:NM_006513.3(SARS) c.970-22T>C,-:0.73,-:0.699062,- 1 109778729 . G . . NT END=109779012;NT GT ./. 1 109779171 . G . . NT END=109779865;NT GT ./. 1 109779556 rs631927 T A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01138,A/0.9886;Gene=SARS/NM_006513.3/1;CC=c.1258-310T>A;VC=Intron;DM=SARS/tRNA-synt_2b;DM=SARS/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:169:19.28:15.41:3.88:1.00:1.00:1.00:60:46.2:0:0:80:67:44:NM_006513.3(SARS) c.1258-310T>A,NM_006513.3(SARS) c.1258-310T>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 109779621 rs397821293 T TC 13 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2528,TC/0.7472;DB;DBA=NA;PAF=T/0.2528,TC/0.7472;NP=648;PC=0.063;Gene=SARS/NM_006513.3/1;CC=c.1258-244dupC;VC=Intron;DM=SARS/tRNA-synt_2b;DM=SARS/tRNA-synt_2b;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:T,TC:7:7:4:0:3,4:90,127:0.00,12.53:0.00,12.53:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:22.7,21.0:0,0:0,0:114,44:37,106:31,19:-,NM_006513.3(SARS) c.1258-245_1258-244insC:-,0.78:-,NOT_FOUND 1 109779996 . G . . NT END=109780352;NT GT ./. 1 109780511 . A . . NT END=109792701;NT GT ./. 1 109792735 rs59201433 A ACGC 486 PASS VT=INS;SST=Single;DP=187;DB;DBA=NA;PAF=A/0.4317,ACGC/0.5683,ACGCCGC/.,ACGCCGCCGC/.;DB;DBA=NA;PAF=A/0.4317,ACGC/0.5683;NP=1205;Gene=CELSR2/NM_001408.2/1;CC=c.49_50insCGC;ProtCh=p.P16_L17insP;VC=InFrameIns;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,ACGC:187:162:145:0:38,3,1,145:1120,94,10,4577:0.00,5.20,-0.03,486.36:0.00,3.32,0.00,340.21:0.00,1.88,-0.03,146.15:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:35.8,52.3,89.0,7.1:3,0,0,0:0,0,0,0:104,0,48,63:26,149,78,87:28,0,0,26:-,NM_001408.2(CELSR2) c.47_49dupCGC (p.Pro16dup):-,0.61:-,0.622368 1 109794252 rs454107 T C 630 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=T/0.09804,C/0.902;PC=0.579;Gene=CELSR2/NM_001408.2/1;CC=c.1551T>C;ProtCh=p.S517=;VC=Silent;DM=CELSR2/Cadherin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:177:118:0:0:176,1:5494,26:629.88,0.00:383.17,0.00:246.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,63.0:0,0:0,0:62,111:87,40:33,0:NM_001408.2(CELSR2) c.1551T>C (p.(=)),NM_001408.2(CELSR2) c.1551T>C (p.(=)):0.92,0.92:0.9002,0.9002 1 109795026 rs413380 T C 607 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=170;DB;DBA=NA;PAF=T/0.09804,C/0.902;Gene=CELSR2/NM_001408.2/1;CC=c.2325T>C;ProtCh=p.Y775=;VC=Silent;DM=CELSR2/Cadherin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:170:107:0:0:169,1:5269,11:606.54,0.08:314.05,0.08:292.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,105.0:0,0:0,0:86,113:64,38:37,0:NM_001408.2(CELSR2) c.2325T>C (p.(=)),NM_001408.2(CELSR2) c.2325T>C (p.(=)):0.92,0.92:0.900123,0.900123 1 109795608 rs437444 T C 610 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=166;DB;DBA=NA;PAF=T/0.08566,C/0.9143;PC=0.994;Gene=CELSR2/NM_001408.2/1;CC=c.2907T>C;ProtCh=p.F969=;VC=Silent;DM=CELSR2/Cadherin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:166:118:0:0:2,163,1:20,5342,10:0.24,610.41,0.06:0.00,341.09,0.06:0.24,269.33,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:68.5,39.0,122.0:0,0,0:0,0,0:65,76,73:86,75,78:18,28,0:NM_001408.2(CELSR2) c.2907T>C (p.(=)),NM_001408.2(CELSR2) c.2907T>C (p.(=)):0.93,0.93:0.913501,0.913501 1 109796012 . G . . NT END=109801053;NT GT ./. 1 109801702 . G . . NT END=109803663;NT GT ./. 1 109803887 . G . . NT END=109804134;NT GT ./. 1 109804251 . G . . NT END=109804429;NT GT ./. 1 109804519 . G . . NT END=109804908;NT GT ./. 1 109804646 rs4970833 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.647,A/0.353;Gene=CELSR2/NM_001408.2/1;CC=c.4386+128G>A;VC=Intron;DM=CELSR2/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:18:10:0:0:9,1,8:280,32,233:27.18,2.23,0.00:14.58,-0.12,0.00:12.60,2.35,0.00:1.00,0.00,0.00:0.95,0.00,0.00:0.87,0.00,0.00:60,60,60:55.1,53.0,21.8:0,0,0:0,0,0:81,38,62:70,112,88:26,0,27:NM_001408.2(CELSR2) c.4386+128G>A,-:0.39,-:NOT_FOUND,- 1 109805067 . G . . NT END=109805427;NT GT ./. 1 109805592 . G . . NT END=109805763;NT GT ./. 1 109805890 . G . . NT END=109806232;NT GT ./. 1 109806400 . G . . NT END=109806699;NT GT ./. 1 109806442 rs1337248 C A 232 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.5108,A/0.4892;PC=0.018;Gene=CELSR2/NM_001408.2/1;CC=c.5001+43C>A;VC=Intron;DM=CELSR2/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:70:36:0:0:69,1:2010,5:232.35,0.00:93.15,0.00:139.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,148.0:0,0:0,0:94,57:54,94:29,0:NM_001408.2(CELSR2) c.5001+43C>A,NM_001408.2(CELSR2) c.5001+43C>A:0.52,0.52:0.484038,0.484038 1 109806834 rs6698843 C T 354 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=221;DB;DBA=NA;PAF=C/0.6466,T/0.3534;PC=0.001;Gene=CELSR2/NM_001408.2/1;CC=c.5136C>T;ProtCh=p.P1712=;VC=Silent;DM=CELSR2/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:221:161:0:0:1,111,109:33,3469,3679:1.25,0.00,353.69:1.37,0.00,187.92:-0.12,0.00,165.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.0,8.6,37.9:0,0,0:0,0,0:140,86,72:10,62,71:0,34,30:-,NM_001408.2(CELSR2) c.5136C>T (p.(=)):-,0.39:-,0.353914 1 109806988 . G . . NT END=109807075;NT GT ./. 1 109807099 rs6689614 G A 198 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=G/0.647,A/0.353;Gene=CELSR2/NM_001408.2/1;CC=c.5313G>A;ProtCh=p.P1771=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:144:78:0:0:65,1,77,1:2092,12,2306,12:197.68,-0.12,0.00,-0.12:84.66,-0.10,0.00,0.01:113.02,-0.02,0.00,-0.13:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:39.2,12.0,9.6,132.0:0,0,0,0:0,0,0,0:70,136,75,16:79,15,74,104:39,0,28,0:NM_001408.2(CELSR2) c.5313G>A (p.(=)),-:0.39,-:0.352683,- 1 109807251 . G . . NT END=109807489;NT GT ./. 1 109807632 . G . . NT END=109807812;NT GT ./. 1 109807934 . G . . NT END=109808356;NT GT ./. 1 109808541 . G . . NT END=109808726;NT GT ./. 1 109808829 . G . . NT END=109810169;NT GT ./. 1 109809110 rs593651 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2935,A/0.7065;PC=0.001;Gene=CELSR2/NM_001408.2/1;CC=c.6013+282G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:159:18.74:0.00:18.74:1.00:0.00:1.00:60:52.0:0:0:111:40:26:NM_001408.2(CELSR2) c.6013+282G>A,NM_001408.2(CELSR2) c.6013+282G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 109810265 . G . . NT END=109810472;NT GT ./. 1 109810683 . G . . NT END=109811202;NT GT ./. 1 109811387 . G . . NT END=109811501;NT GT ./. 1 109811452 rs377663402 G T 210 nt VT=SNV;PN=T;NN=G;SST=Single;DP=175;DB;DBA=NA;PAF=NA;Gene=CELSR2/NM_001408.2/1;CC=c.6503-50G>T;VC=Intron;DM=CELSR2/GAIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:175:117:0:0:1,1,101,72:14,12,3248,2267:-0.11,-0.16,0.00,209.99:-0.14,-0.04,0.00,112.52:0.03,-0.12,0.00,97.47:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:34.0,86.0,13.1,37.5:0,0,0,0:0,0,0,0:0,56,83,60:151,94,65,90:0,0,41,35:-,NM_001408.2(CELSR2) c.6503-50G>T:-,NOT_FOUND:-,0.000077 1 109811631 . G . . NT END=109811731;NT GT ./. 1 109811913 . G . . NT END=109812045;NT GT ./. 1 109812214 . G . . NT END=109812315;NT GT ./. 1 109812443 . G . . NT END=109812554;NT GT ./. 1 109812756 . G . . NT END=109813047;NT GT ./. 1 109813020 rs3895559 G A 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.5813,A/0.4187;PC=0.001;Gene=CELSR2/NM_001408.2/1;CC=c.7309-28G>A;VC=Intron;DM=CELSR2/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:71:60:0:0:26,1,44:814,11,1352:73.76,-0.10,0.00:59.52,-0.01,0.00:14.24,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.1,108.0,11.7:0,0,0:0,0,0:56,64,52:95,87,99:36,0,36:NM_001408.2(CELSR2) c.7309-28G>A,-:0.45,-:0.425957,- 1 109813223 . G . . NT END=109813548;NT GT ./. 1 109813236 rs79668084 TTCCCAGTCTTGGGG T 98 nt VT=DEL;SST=Single;DP=93;DB;DBA=NA;PAF=TTCCCAGTCTTGGGG/0.6196,T/0.3804;DB;DBA=NA;PAF=TTCCCAGTCTTGGGG/0.6196,T/0.3804;NP=1257;Gene=CELSR2/NM_001408.2/1;CC=c.7483+20_7483+33delGTCTTGGGGTCCCA;VC=Intron;DM=CELSR2/7tm_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TTCCCAGTCTTGGGG,T:93:52:0:35:1,58,34:22,1806,1079:0.51,0.00,97.83:-0.09,0.00,43.69:0.60,0.00,54.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:51.0,6.4,2.1:0,1,0:0,0,0:33,103,96:118,43,48:0,21,26:-,NM_001408.2(CELSR2) c.7483+15_7483+28delTCCCAGTCTTGGGG:-,NOT_FOUND:-,0.359087 1 109813510 rs41279716 A T 80 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.8806,C/.,T/0.1194;Gene=CELSR2/NM_001408.2/1;CC=c.7484-39A>T;VC=Intron;DM=CELSR2/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:47:38:0:0:19,3,25:601,55,812:0.00,3.00,80.03:0.00,0.83,52.77:0.00,2.16,27.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.8,32.0,46.6:0,0,0:0,0,0:46,13,46:105,132,100:22,6,27:-,NM_001408.2(CELSR2) c.7484-39A>T:-,0.12:-,0.167077 1 109813662 . G . . NT END=109813838;NT GT ./. 1 109813719 rs17035665 C T 83 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8389,T/0.1611;PC=0.002;Gene=CELSR2/NM_001408.2/1;CC=c.7596+58C>T;VC=Intron;DM=CELSR2/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:16:0:0:11,26:351,805:0.00,83.09:0.00,35.94:0.00,47.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.3,42.8:0,0:0,0:54,108:97,34:40,29:-,NM_001408.2(CELSR2) c.7596+58C>T:-,0.15:-,NOT_FOUND 1 109813919 . G . . NT END=109814007;NT GT ./. 1 109814135 . G . . NT END=109814221;NT GT ./. 1 109814345 . G . . NT END=109814899;NT GT ./. 1 109814880 rs4970834 C T 100 nt VT=SNV;PN=A;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.8283,T/0.1717;Gene=CELSR2/NM_001408.2/1;CC=c.7927-20C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:71:0:0:49,33:1578,1081:0.00,99.82:0.00,58.79:0.00,41.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.9,35.2:0,0:0,0:66,53:73,94:26,14:-,NM_001408.2(CELSR2) c.7927-20C>T:-,0.17:-,0.22259 1 109815028 . G . . NT END=109815261;NT GT ./. 1 109815252 rs611917 A G 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.755,G/0.245;Gene=CELSR2/NM_001408.2/1;CC=c.8055-10A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:48:0:0:44,22:1385,670:0.00,59.24:0.00,38.13:0.00,21.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,38.6:0,0:0,0:39,62:104,81:25,36:-,NM_001408.2(CELSR2) c.8055-10A>G:-,0.25:-,0.314672 1 109815351 . G . . NT END=109815454;NT GT ./. 1 109815650 . G . . NT END=109815787;NT GT ./. 1 109815959 . G . . NT END=109816057;NT GT ./. 1 109816176 rs441853 A C 331 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.03015,C/0.9698,T/.;Gene=CELSR2/NM_001408.2/1;CC=c.8628A>C;ProtCh=p.G2876=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:94:58:0:0:1,93:27,2896:0.00,331.18:0.00,139.27:0.00,191.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,45.6:0,1:0,0:74,81:77,67:0,28:NM_001408.2(CELSR2) c.8628A>C (p.(=)),NM_001408.2(CELSR2) c.8628A>C (p.(=)):0.98,0.98:0.97516,0.97516 1 109816293 . G . . NT END=109816643;NT GT ./. 1 109816805 . G . . NT END=109822742;NT GT ./. 1 109816863 rs56246620 T TC 11 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.8838,TC/0.1162;DB;DBA=NA;PAF=T/0.8838,TC/0.1162;DB;DBA=NA;PAF=T/0.8838,TC/0.1162;NP=123;PC=0.999;Gene=CELSR2/NM_001408.2/1;CC=c.*200dupC;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,C,T,TC:27:9:5:0:1,1,20,5:11,34,559,139:0.03,2.12,0.00,10.86:0.30,-0.05,0.00,4.10:-0.28,2.17,0.00,6.76:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.98:60,60,60,60:124.0,34.0,23.4,23.0:0,1,0,0:0,0,0,0:118,60,107,105:22,91,40,46:0,0,34,22:-,NM_001408.2(CELSR2) c.*200dupC:-,NOT_FOUND:-,NOT_FOUND 1 109822779 . C . . NT END=109823017;NT GT ./. 1 109823112 . C . . NT END=109823398;NT GT ./. 1 109823874 . C . . NT END=109824240;NT GT ./. 1 109824683 . C . . NT END=109825139;NT GT ./. 1 109825198 . C . . NT END=109825301;NT GT ./. 1 109825321 . G . . NT END=109836860;NT GT ./. 1 109825360 rs643457 C T 176 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.02895,C/0.971;PC=0.070;Gene=PSRC1/NM_001005290.3/0;CC=c.-33-7G>A;VC=Intron;Gene=PSRC1/NM_001032291.2/0;CC=c.-38-2G>A;VC=SpliceSiteUTR;Gene=PSRC1/NM_032636.7/1;CC=c.-33-7G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C,T:47:24:0:0:1,46:14,1558:0.00,175.81:0.00,74.00:0.00,101.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:155.0,39.7:0,0:0,0:4,83:147,58:0,25:NM_001032291.2(PSRC1) c.-39-1G>A,NM_001032291.2(PSRC1) c.-39-1G>A:0.98,0.98:0.971122,0.971122 1 109825558 rs138361368 C A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.973,A/0.02696;Gene=PSRC1/NM_001005290.3/0;CC=c.-34+127G>T;VC=Intron;Gene=PSRC1/NM_001032291.2/0;CC=c.-39+127G>T;VC=Intron;Gene=PSRC1/NM_032636.7/1;CC=c.-34+127G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,C:9:0:0:0:5,4:128,126:12.48,0.00:0.00,0.00:12.48,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:34.8,14.8:0,0:0,0:133,109:18,41:17,30:NM_001032291.2(PSRC1) c.-40+128G>T,-:0.02,-:NOT_FOUND,- 1 109836842 rs646335 C G 116 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.4772,A/.,G/0.5228;Gene=MYBPHL/NM_001010985.2/1;CC=c.*19G>C;VC=3UTR;Gene=MYBPHL/NM_001265613.1/0;CC=c.*19G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:26:0:0:32:1009:116.12:69.23:46.88:1.00:1.00:1.00:60:38.8:0:0:61:84:31:NM_001010985.2(MYBPHL) c.*19G>C,NM_001010985.2(MYBPHL) c.*19G>C:0.55,0.55:0.573274,0.573274 1 109836872 . C . . NT END=109837732;NT GT ./. 1 109837920 . C . . NT END=109838855;NT GT ./. 1 109838116 rs632514 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.02496,T/0.975;Gene=MYBPHL/NM_001010985.2/1;CC=c.868-197G>A;VC=Intron;Gene=MYBPHL/NM_001265613.1/0;CC=c.799-197G>A;VC=Intron;DM=MYBPHL/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:T:14:0:0:0:14:355:41.90:0.00:41.90:1.00:0.00:1.00:60:59.0:0:0:89:58:31:NM_001010985.2(MYBPHL) c.868-197G>A,NM_001010985.2(MYBPHL) c.868-197G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 109838594 rs630395 G A,C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.05811,A/0.9419;PC=0.001;DM=MYBPHL/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C:5:5:0:0:4,1:121,11:13.62,0.89:13.62,0.89:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:64.2,175.0:0,0:0,0:36,72:113,41:20,0:NM_001010985.2(MYBPHL) c.867+262C>T,NM_001010985.2(MYBPHL) c.867+262C>G:0.96,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 109838833 rs616899 T C 352 nt VT=SNV;PN=G;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.03435,C/0.9657;PC=0.001;Gene=MYBPHL/NM_001010985.2/1;CC=c.867+23A>G;VC=Intron;Gene=MYBPHL/NM_001265613.1/0;CC=c.798+23A>G;VC=Intron;DM=MYBPHL/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:96:83:0:0:1,95:7,3075:0.05,351.76:0.05,242.55:0.00,109.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:138.0,57.3:0,0:0,0:95,61:56,83:0,30:NM_001010985.2(MYBPHL) c.867+23A>G,NM_001010985.2(MYBPHL) c.867+23A>G:0.97,0.97:0.96517,0.96517 1 109838918 rs629001 C T 414 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.1254,T/0.8746;PC=0.997;Gene=MYBPHL/NM_001010985.2/1;CC=c.805G>A;ProtCh=p.D269N;VC=Missense;Gene=MYBPHL/NM_001265613.1/0;CC=c.736G>A;ProtCh=p.D246N;VC=Missense;DM=MYBPHL/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:112:77:0:0:112:3609:414.15:210.57:203.58:1.00:1.00:1.00:60:52.4:0:0:62:85:42:NM_001010985.2(MYBPHL) c.805G>A (p.Asp269Asn),NM_001010985.2(MYBPHL) c.805G>A (p.Asp269Asn):0.9,0.9:0.859988,0.859988 1 109838993 . C . . NT END=109839404;NT GT ./. 1 109839063 . AT A 28 idl,rn VT=DEL;SST=Single;DP=74;NP=34;PC=0.005;Gene=MYBPHL/NM_001010985.2/1;CC=c.731-72delA;VC=Intron;Gene=MYBPHL/NM_001265613.1/0;CC=c.662-72delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,I,A:68:35:5:18:51,1,5,11:1504,10,157,524:0.00,-0.18,10.70,27.99:0.00,-0.11,5.93,6.02:0.00,-0.07,4.77,21.97:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:22.2,88.0,9.8,20.6:0,0,0,6:0,0,0,0:113,77,80,103:32,74,71,46:19,0,15,21:-,NM_001010985.2(MYBPHL) c.731-72delA:-,NOT_FOUND:-,NOT_FOUND 1 109839392 rs604349 A G 166 nt VT=SNV;PN=C;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.247,G/0.753,T/.;Gene=MYBPHL/NM_001010985.2/1;CC=c.730+13T>C;VC=Intron;Gene=MYBPHL/NM_001265613.1/0;CC=c.661+13T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:96:82:0:0:40,1,55:1312,12,1674:0.00,-0.02,165.53:0.00,0.04,124.76:0.00,-0.06,40.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:38.3,31.0,66.8:0,0,0:0,0,0:55,15,41:87,136,100:38,0,31:-,NM_001010985.2(MYBPHL) c.730+13T>C:-,0.79:-,0.72159 1 109839433 rs1278285 A G 483 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=A/0.07468,G/0.9253;Gene=MYBPHL/NM_001010985.2/1;CC=c.702T>C;ProtCh=p.T234=;VC=Silent;Gene=MYBPHL/NM_001265613.1/0;CC=c.633T>C;ProtCh=p.T211=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:130:101:0:0:1,129:11,4235:0.00,482.97:0.00,304.88:0.00,178.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:75.0,50.8:0,0:0,0:104,56:25,92:0,34:NM_001010985.2(MYBPHL) c.702T>C (p.(=)),NM_001010985.2(MYBPHL) c.702T>C (p.(=)):0.95,0.95:0.924189,0.924189 1 109839565 . C . . NT END=109839671;NT GT ./. 1 109839812 . C . . NT END=109840043;NT GT ./. 1 109839954 rs603624 G C 201 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.2678,C/0.7322;Gene=MYBPHL/NM_001010985.2/1;CC=c.430+90C>G;VC=Intron;Gene=MYBPHL/NM_001265613.1/0;CC=c.362-143C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:A,C:59:32:0:0:1,58:25,1742:1.23,201.31:1.23,97.38:0.00,103.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:106.0,42.2:0,0:0,0:53,87:98,64:0,48:NM_001010985.2(MYBPHL) c.430+90C>G,NM_001010985.2(MYBPHL) c.430+90C>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 109840240 . C . . NT END=109840790;NT GT ./. 1 109840629 rs600806 G A 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3075,A/0.6925;Gene=MYBPHL/NM_001010985.2/1;CC=c.234+162C>T;VC=Intron;Gene=MYBPHL/NM_001265613.1/0;CC=c.234+162C>T;VC=Intron;DM=MYBPHL/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,G:14:13:0:0:5,9:147,253:13.13,0.00:13.32,0.00:-0.19,0.00:0.90,0.00:0.99,0.00:0.57,0.00:60,60:41.4,2.1:0,0:0,0:82,81:69,70:7,32:NM_001010985.2(MYBPHL) c.234+162C>T,-:0.73,-:NOT_FOUND,- 1 109840880 . C . . NT END=109849468;NT GT ./. 1 109849254 rs443345 A G 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3151,G/0.6849;PC=0.122;Gene=MYBPHL/NM_001010985.2/1;CC=c.145+215T>C;VC=Intron;Gene=MYBPHL/NM_001265613.1/0;CC=c.145+215T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:15:14:0:0:6,9:193,286:0.00,28.47:0.00,28.87:0.00,-0.40:0.00,1.00:0.00,1.00:0.00,0.73:60,60:7.8,49.1:0,0:0,0:50,36:101,114:19,20:-,NM_001010985.2(MYBPHL) c.145+215T>C:-,0.72:-,NOT_FOUND 1 109849614 . G . . NT END=109856663;NT GT ./. 1 109856680 . C . . NT END=109856881;NT GT ./. 1 109856842 rs56356949 TG T 13 rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=631;PC=0.001;Gene=SORT1/NM_001205228.1/0;CC=c.2070+40delC;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.2481+40delC;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:TG,I,T:49:39:1:6:42,1,6:1236,34,184:0.00,1.81,13.43:0.00,1.92,6.38:0.00,-0.11,7.04:0.00,0.00,0.85:0.00,0.00,0.97:0.00,0.00,0.86:60,60,60:27.5,0.0,5.3:0,0,0:0,0,0:56,71,95:74,80,55:34,0,20:-,NM_002959.5(SORT1) c.2481+40delC:-,NOT_FOUND:-,NOT_FOUND 1 109856843 rs661278 G T 7 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7133,C/.,T/0.2867;PC=0.001;Gene=SORT1/NM_001205228.1/0;CC=c.2070+40C>A;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.2481+40C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:G,T:44:35:0:6:40,4:1235,110:0.00,7.10:0.00,2.68:0.00,4.42:0.00,0.57:0.00,0.90:0.00,0.70:60,60:21.5,85.0:1,0:0,0:62,55:76,77:38,17:-,NM_002959.5(SORT1) c.2481+40C>A:-,NOT_FOUND:-,NOT_FOUND 1 109857007 . C . . NT END=109857292;NT GT ./. 1 109857401 . C . . NT END=109859470;NT GT ./. 1 109859581 . C . . NT END=109860473;NT GT ./. 1 109860592 . C . . NT END=109865552;NT GT ./. 1 109865744 . C . . NT END=109867519;NT GT ./. 1 109867712 . C . . NT END=109869612;NT GT ./. 1 109867892 rs12045346 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2544,G/0.7456;PC=0.002;Gene=SORT1/NM_001205228.1/0;CC=c.1233-181T>C;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.1644-181T>C;VC=Intron;DM=SORT1/Sortilin-Vps10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,G:14:0:0:0:9,5:246,142:0.00,12.62:0.00,0.00:0.00,12.62:0.00,0.90:0.00,0.00:0.00,0.90:60,60:11.9,76.8:0,0:0,0:70,32:63,116:38,15:-,NM_002959.5(SORT1) c.1644-181T>C:-,0.76:-,NOT_FOUND 1 109867929 rs11102969 G A 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3151,A/0.6849;PC=0.001;Gene=SORT1/NM_001205228.1/0;CC=c.1233-218C>T;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.1644-218C>T;VC=Intron;DM=SORT1/Sortilin-Vps10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,G:13:0:0:0:5,8:138,259:12.39,0.00:0.00,0.00:12.39,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:76.8,13.4:0,0:0,0:69,82:79,68:15,35:NM_002959.5(SORT1) c.1644-218C>T,-:0.71,-:NOT_FOUND,- 1 109869783 . C . . NT END=109870119;NT GT ./. 1 109870224 . C . . NT END=109878860;NT GT ./. 1 109878969 . C . . NT END=109883344;NT GT ./. 1 109883199 rs58727572 TA T 13 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=11;PC=0.100;Gene=SORT1/NM_001205228.1/0;CC=c.853+146delT;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.1264+146delT;VC=Intron;DM=SORT1/Sortilin-Vps10;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:TA,T:20:20:0:5:15,5:487,159:0.00,13.40:0.00,13.40:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:6.1,6.2:0,0:0,0:47,69:103,82:37,30:-,NM_002959.5(SORT1) c.1264+146delT:-,NOT_FOUND:-,NOT_FOUND 1 109883502 . C . . NT END=109884634;NT GT ./. 1 109883576 rs74584797 C CAT 34 nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2594,CAT/0.7406;DB;DBA=NA;PAF=C/0.4738,T/0.5262;NP=2354;Gene=SORT1/NM_001205228.1/0;CC=c.698-76_698-75insAT;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.1109-76_1109-75insAT;VC=Intron;DM=SORT1/Sortilin-Vps10;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAT:29:7:12:0:17,12:515,372:0.00,34.38:0.00,4.43:0.00,29.95:0.00,1.00:0.00,0.96:0.00,1.00:60,60:14.8,8.9:0,0:0,0:97,94:52,53:25,20:-,NM_002959.5(SORT1) c.1109-76_1109-75insAT:-,NOT_FOUND:-,NOT_FOUND 1 109884775 rs2228604 T G 72 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.3145,G/0.6855;PC=0.662;Gene=SORT1/NM_001205228.1/0;CC=c.558A>C;ProtCh=p.T186=;VC=Silent;Gene=SORT1/NM_002959.5/1;CC=c.969A>C;ProtCh=p.T323=;VC=Silent;DM=SORT1/Sortilin-Vps10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:50:22:0:0:24,26:758,867:72.17,0.00:18.43,0.00:53.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,5.7:0,0:0,0:67,114:81,36:42,27:NM_002959.5(SORT1) c.969A>C (p.(=)),-:0.72,-:0.62302,- 1 109884781 . C . . NT END=109888371;NT GT ./. 1 109888504 . C . . NT END=109890103;NT GT ./. 1 109890155 . C . . NT END=109893549;NT GT ./. 1 109893625 . C . . NT END=109896987;NT GT ./. 1 109897103 rs11142 A G 40 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.2236,G/0.7764;PC=1.000;Gene=SORT1/NM_001205228.1/0;CC=c.186T>C;ProtCh=p.F62=;VC=Silent;Gene=SORT1/NM_002959.5/1;CC=c.594T>C;ProtCh=p.F198=;VC=Silent;DM=SORT1/Sortilin-Vps10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:19:0:0:19,13:627,435:0.00,40.31:0.00,14.30:0.00,26.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.5,40.2:0,0:0,0:90,66:57,85:32,24:-,NM_002959.5(SORT1) c.594T>C (p.(=)):-,0.78:-,0.707673 1 109897154 . C . . NT END=109897987;NT GT ./. 1 109898092 . C . . NT END=109910028;NT GT ./. 1 109910104 . C . . NT END=109912150;NT GT ./. 1 109912212 . C . . NT END=109935212;NT GT ./. 1 109935325 rs3768495 C T 137 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.3151,T/0.6849;Gene=SORT1/NM_001205228.1/0;CC=c.-103+324G>A;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.306+4884G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:45:0:0:39,44:1240,1407:0.00,136.76:0.00,55.04:0.00,81.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,45.5:0,0:0,0:64,68:87,81:35,35:-,NM_002959.5(SORT1) c.306+4884G>A:-,0.72:-,NOT_FOUND 1 109935427 rs3768494 A G 121 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.2538,G/0.7462;Gene=SORT1/NM_001205228.1/0;CC=c.-103+222T>C;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.306+4782T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:74:51:0:0:36,38:1163,1256:0.00,121.46:0.00,80.31:0.00,41.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,58.9:0,0:0,0:94,84:55,63:41,42:-,NM_002959.5(SORT1) c.306+4782T>C:-,0.76:-,NOT_FOUND 1 109935505 rs3768493 C T 141 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.3151,T/0.6849;PC=0.001;Gene=SORT1/NM_001205228.1/0;CC=c.-103+144G>A;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.306+4704G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:92:65:0:0:44,48:1465,1459:0.00,140.99:0.00,86.47:0.00,54.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,69.6:0,0:0,0:66,59:81,84:32,36:-,NM_002959.5(SORT1) c.306+4704G>A:-,0.72:-,NOT_FOUND 1 109935578 rs10858091 T C 190 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=T/0.3151,C/0.6849;Gene=SORT1/NM_001205228.1/0;CC=c.-103+71A>G;VC=Intron;Gene=SORT1/NM_002959.5/1;CC=c.306+4631A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:110:80:0:0:58,52:1949,1513:189.55,0.00:110.96,0.00:78.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.1,4.4:0,0:0,0:69,67:81,84:35,41:NM_002959.5(SORT1) c.306+4631A>G,-:0.72,-:NOT_FOUND,- 1 109935606 . G . . NT END=109935648;NT GT ./. 1 109935775 rs2140924 A C 150 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=A/0.2538,C/0.7462;Gene=SORT1/NM_001205228.1/0;CC=c.-229T>G;VC=5UTR;Gene=SORT1/NM_002959.5/1;CC=c.306+4434T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:122:63:0:0:69,52,1:2140,1609,12:0.00,149.76,-0.11:0.00,49.48,-0.11:0.00,100.28,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.1,35.2,140.0:0,0,0:0,0,0:61,77,136:87,74,15:32,38,0:-,NM_002959.5(SORT1) c.306+4434T>G:-,0.76:-,NOT_FOUND 1 109935980 . A . . NT END=109940207;NT GT ./. 1 109939965 . TA T 7 idl,rn VT=DEL;SST=Single;DP=12;NP=1;PC=0.099;Gene=SORT1/NM_002959.5/1;CC=c.306+243delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:TA,T:10:12:0:5:7,3:184,150:0.00,7.15:0.00,7.15:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:37.3,23.0:1,2:0,0:73,50:78,101:10,24:-,NM_002959.5(SORT1) c.306+243delT:-,NOT_FOUND:-,NOT_FOUND 1 109940503 rs72646553 G C 247 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=G/0.846,C/0.154;PC=0.815;Gene=SORT1/NM_002959.5/1;CC=c.12C>G;ProtCh=p.P4=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:162:88:0:0:81,81:2574,2565:247.18,0.00:95.77,0.00:151.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.9,11.2:0,0:0,0:88,98:53,46:32,24:NM_002959.5(SORT1) c.12C>G (p.(=)),-:0.17,-:NOT_FOUND,- 1 109940515 . C . . NT END=109944634;NT GT ./. 1 109944713 . C . . NT END=109952549;NT GT ./. 1 109952637 . C . . NT END=109953632;NT GT ./. 1 109953736 . C . . NT END=109954498;NT GT ./. 1 109954261 rs190254421 G C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;Gene=PSMA5/NM_001199772.1/0;CC=c.284+238C>G;VC=Intron;Gene=PSMA5/NM_002790.3/0;CC=c.458+238C>G;VC=Intron;Gene=PSMA5/NM_001199773.1/0;CC=c.284+238C>G;VC=Intron;Gene=PSMA5/NM_001199774.1/1;CC=c.284+238C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:4:4:0:0:3,1:98,35:10.25,0.00:10.55,0.00:-0.30,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:55.0,0.0:0,0:0,0:55,69:96,81:18,0:NM_002790.3(PSMA5) c.458+238C>G,-:0.0014,-:NOT_FOUND,- 1 109954355 rs11102979 C G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PSMA5/NM_001199772.1/0;CC=c.284+144G>C;VC=Intron;Gene=PSMA5/NM_002790.3/0;CC=c.458+144G>C;VC=Intron;Gene=PSMA5/NM_001199773.1/0;CC=c.284+144G>C;VC=Intron;Gene=PSMA5/NM_001199774.1/1;CC=c.284+144G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,G:5:5:0:0:1,4:33,114:0.00,12.22:0.00,12.22:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,47.2:0,0:0,0:69,92:82,58:0,14:-,NM_002790.3(PSMA5) c.458+144G>C:-,0.76:-,NOT_FOUND 1 109954558 . C . . NT END=109954698;NT GT ./. 1 109954807 . C . . NT END=109955689;NT GT ./. 1 109955758 . C . . NT END=109957858;NT GT ./. 1 109957986 . C . . NT END=109964481;NT GT ./. 1 109958035 rs1465607 T C 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.254,C/0.746;PC=0.016;Gene=PSMA5/NM_001199772.1/0;CC=c.-78-50A>G;VC=Intron;Gene=PSMA5/NM_002790.3/0;CC=c.97-50A>G;VC=Intron;Gene=PSMA5/NM_001199773.1/0;CC=c.-78-50A>G;VC=Intron;Gene=PSMA5/NM_001199774.1/1;CC=c.-78-50A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:13:0:0:21,18:717,597:70.03,0.00:20.59,0.00:49.44,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:36.4,2.2:0,0:0,0:103,86:42,48:30,38:NM_002790.3(PSMA5) c.97-50A>G,-:0.76,-:0.677226,- 1 109964549 . C . . NT END=109968923;NT GT ./. 1 109968953 . G . . NT END=110009465;NT GT ./. 1 110009171 rs4970765 C T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2728,T/0.7272;PC=0.206;Gene=SYPL2/NM_001040709.1/1;CC=c.-295C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,T:8:8:0:0:4,4:122,116:0.00,11.10:0.00,11.25:0.00,-0.15:0.00,0.87:0.00,0.87:0.00,0.67:60,60:7.2,35.2:0,0:0,0:42,32:108,118:4,24:-,NM_001040709.1(SYPL2) c.-295C>T:-,0.74:-,NOT_FOUND 1 110009434 rs2787015 A C 271 nt VT=SNV;PN=C;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=A/0.2524,C/0.7476;PC=0.002;Gene=SYPL2/NM_001040709.1/1;CC=c.-32A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:151:124:0:0:64,86,1:2016,2741,6:0.00,270.69,-0.17:0.00,163.87,-0.10:0.00,106.82,-0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.3,41.9,50.0:0,0,0:0,0,0:59,49,19:84,94,125:34,31,0:-,NM_001040709.1(SYPL2) c.-32A>C:-,0.75:-,NOT_FOUND 1 110009520 . G . . NT END=110009680;NT GT ./. 1 110009654 rs138525393 AC A 118 rn VT=DEL;SST=Single;DP=93;DB;DBA=NA;PAF=AC/0.3129,A/0.6871;NP=202;PC=0.470;Gene=SYPL2/NM_001040709.1/1;CC=c.55-21delC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:92:53:0:43:50,42:1424,1267:0.00,117.86:0.00,48.10:0.00,69.76:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.6,13.5:0,1:0,0:74,77:74,72:34,29:-,NM_001040709.1(SYPL2) c.55-26delC:-,0.7:-,0.634272 1 110009756 . G . . NT END=110018202;NT GT ./. 1 110015519 rs12753439 G A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3458,A/0.6542;PC=0.522;Gene=SYPL2/NM_001040709.1/1;CC=c.130-2684G>A;VC=Intron;DM=SYPL2/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,G:4:0:0:0:3,1:96,8:10.13,0.00:0.00,0.00:10.13,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:32.0,133.0:0,0:0,0:120,24:31,117:13,0:NM_001040709.1(SYPL2) c.130-2684G>A,-:0.68,-:NOT_FOUND,- 1 110018148 rs530565 C T 274 nt VT=SNV;PN=T;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.00619,T/0.9938;Gene=SYPL2/NM_001040709.1/1;CC=c.130-55C>T;VC=Intron;DM=SYPL2/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:77:64:0:0:1,76:21,2388:0.77,274.41:0.77,190.04:0.00,84.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.0,45.4:0,0:0,0:5,47:145,100:0,25:NM_001040709.1(SYPL2) c.130-55C>T,NM_001040709.1(SYPL2) c.130-55C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 110018328 . G . . NT END=110019397;NT GT ./. 1 110019600 . G . . NT END=110020439;NT GT ./. 1 110020698 . G . . NT END=110021999;NT GT ./. 1 110021837 rs9661614 T C 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6623,C/0.3377;PC=0.003;Gene=SYPL2/NM_001040709.1/1;CC=c.649-163T>C;VC=Intron;DM=SYPL2/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:8,10:275,273:25.96,0.00:25.96,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:43.6,21.6:0,0:0,0:52,67:98,84:39,56:NM_001040709.1(SYPL2) c.649-163T>C,-:0.31,-:NOT_FOUND,- 1 110022171 . G . . NT END=110026575;NT GT ./. 1 110026486 . T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:G,T:47:46:0:0:7,40:131,1046:7.98,0.00:7.37,0.00:0.61,0.00:0.93,0.00:1.00,0.00:0.60,0.00:60,60:150.1,7.8:0,0:0,0:83,22:39,119:18,15:NM_153340.4(ATXN7L2) c.-15-u75T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 110026703 . G . . NT END=110027886;NT GT ./. 1 110026891 rs573491 T G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6835,G/0.3165;PC=0.974;Gene=ATXN7L2/NM_153340.4/1;CC=c.127+189T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:G,T:15:0:0:0:6,9:192,290:17.68,0.00:0.00,0.00:17.68,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:52.0,6.8:0,0:0,0:91,63:59,88:39,31:NM_153340.4(ATXN7L2) c.127+189T>G,-:0.29,-:NOT_FOUND,- 1 110028745 . G . . NT END=110029127;NT GT ./. 1 110029233 . G . . NT END=110029628;NT GT ./. 1 110029475 rs1144594 C T 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7865,T/0.2135;Gene=ATXN7L2/NM_153340.4/1;CC=c.299-154C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:20:17:0:0:7,1,12:209,6,338:0.00,-0.01,34.03:0.00,0.01,29.65:0.00,-0.02,4.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.94:60,60,60:24.1,153.0,38.4:0,0,0:0,0,0:22,129,58:129,22,91:11,0,29:-,NM_153340.4(ATXN7L2) c.299-154C>T:-,0.22:-,NOT_FOUND 1 110029840 . G . . NT END=110030139;NT GT ./. 1 110030427 . G . . NT END=110031004;NT GT ./. 1 110030895 rs76781269 GTC G 35 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GTC/0.8209,G/0.1791;DB;DBA=NA;PAF=GTC/0.8209,G/0.1791;NP=434;Gene=ATXN7L2/NM_153340.4/1;CC=c.701-106_701-105delCT;VC=Intron;DM=ATXN7L2/SCA7;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTC,G:19:19:0:11:8,11:274,350:0.00,34.63:0.00,34.82:0.00,-0.19:0.00,1.00:0.00,1.00:0.00,0.72:60,60:4.4,35.1:0,0:0,0:95,40:55,110:20,25:-,NM_153340.4(ATXN7L2) c.701-109_701-108delTC:-,0.19:-,NOT_FOUND 1 110030945 rs1144593 A G 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.7821,G/0.2179;Gene=ATXN7L2/NM_153340.4/1;CC=c.701-60A>G;VC=Intron;DM=ATXN7L2/SCA7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:31:0:0:15,18:483,572:0.00,55.88:0.00,48.31:0.00,7.56:0.00,1.00:0.00,1.00:0.00,0.98:60,60:13.5,48.8:0,0:0,0:33,51:117,97:15,20:-,NM_153340.4(ATXN7L2) c.701-60A>G:-,0.23:-,0.294788 1 110031088 . G . . NT END=110031468;NT GT ./. 1 110031188 rs12049330 T G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.8488,G/0.1512;PC=0.001;Gene=ATXN7L2/NM_153340.4/1;CC=c.783+101T>G;VC=Intron;DM=ATXN7L2/SCA7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:7:0:0:8,12:232,384:21.15,0.00:9.97,0.00:11.18,0.00:0.99,0.00:0.96,0.00:0.96,0.00:60,60:34.6,14.6:0,0:0,0:89,78:60,73:33,22:NM_153340.4(ATXN7L2) c.783+101T>G,-:0.16,-:NOT_FOUND,- 1 110031723 . G . . NT END=110032551;NT GT ./. 1 110031990 rs10494041 C G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7875,G/0.2125;PC=0.006;Gene=ATXN7L2/NM_153340.4/1;CC=c.1037+268C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:162:18.58:0.00:18.58:1.00:0.00:1.00:60:42.4:0:0:97:52:30:NM_153340.4(ATXN7L2) c.1037+268C>G,NM_153340.4(ATXN7L2) c.1037+268C>G:0.2,0.2:NOT_FOUND,NOT_FOUND 1 110032751 . G . . NT END=110032892;NT GT ./. 1 110033015 . G . . NT END=110033543;NT GT ./. 1 110034340 . G . . NT END=110034648;NT GT ./. 1 110034727 . G . . NT END=110035207;NT GT ./. 1 110035159 rs11590351 T C 113 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.8101,C/0.1899;Gene=ATXN7L2/NM_153340.4/1;CC=c.2155-49T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:51:0:0:37,23:1127,788:112.86,0.00:77.45,0.00:35.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,7.9:0,0:0,0:65,55:86,96:25,39:NM_153340.4(ATXN7L2) c.2155-49T>C,-:0.19,-:0.241504,- 1 110035223 . C . . NT END=110036761;NT GT ./. 1 110035318 rs34382032 AT A 66 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1211;PC=1.000;Gene=ATXN7L2/NM_153340.4/1;CC=c.*105delT;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,A:36:8:0:21:14,1,21:388,11,658:0.00,0.12,65.62:0.00,-0.02,7.15:0.00,0.14,58.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.6,21.0,8.4:0,0,0:0,0,0:107,26,82:43,124,68:14,0,17:-,NM_153340.4(ATXN7L2) c.*97T[8]:-,NOT_FOUND:-,NOT_FOUND 1 110036910 . G . . NT END=110037141;NT GT ./. 1 110036919 rs76997102 C G 265 nt VT=SNV;PN=G;NN=G;SST=Single;DP=197;DB;DBA=NA;PAF=C/0.9185,G/0.08147;PC=0.005;Gene=CYB561D1/NM_001134402.1/0;CC=c.15+143C>G;VC=Intron;Gene=CYB561D1/NM_001134400.1/0;CC=c.148+10C>G;VC=Intron;Gene=CYB561D1/NM_001134403.1/1;CC=c.148+10C>G;VC=Intron;Gene=CYB561D1/NM_001134404.1/0;CC=c.148+10C>G;VC=Intron;Gene=CYB561D1/NM_182580.2/0;CC=c.148+10C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:197:116:0:0:104,92,1:3131,2797,12:0.00,264.81,-0.14:0.00,132.18,-0.00:0.00,132.63,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.9,57.1,57.0:0,0,0:0,0,0:83,87,137:62,61,14:36,36,0:-,NM_001134400.1(CYB561D1) c.148+10C>G:-,0.07:-,0.070306 1 110036998 rs17575205 G C 261 nt VT=SNV;PN=G;NN=A;SST=Single;DP=157;DB;DBA=NA;PAF=G/0.8552,C/0.1448;PC=0.681;Gene=CYB561D1/NM_001134402.1/0;CC=c.15+222G>C;VC=Intron;Gene=CYB561D1/NM_001134400.1/0;CC=c.148+89G>C;VC=Intron;Gene=CYB561D1/NM_001134403.1/1;CC=c.148+89G>C;VC=Intron;Gene=CYB561D1/NM_001134404.1/0;CC=c.148+89G>C;VC=Intron;Gene=CYB561D1/NM_182580.2/0;CC=c.148+89G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:157:96:0:0:84,73:2686,2336:261.41,0.00:149.13,0.00:112.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.7,9.7:0,0:0,0:72,97:78,54:36,39:NM_001134400.1(CYB561D1) c.148+89G>C,-:0.15,-:NOT_FOUND,- 1 110037246 . g . . NT END=110037764;NT GT ./. 1 110037803 . G . . NT END=110038300;NT GT ./. 1 110037838 rs749056 T G 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.6691,G/0.3309;Gene=CYB561D1/NM_001134402.1/0;CC=c.16-540T>G;VC=Intron;Gene=CYB561D1/NM_001134400.1/0;CC=c.253-540T>G;VC=Intron;Gene=CYB561D1/NM_001134403.1/1;CC=c.290+36T>G;VC=Intron;Gene=CYB561D1/NM_001134404.1/0;CC=c.290+36T>G;VC=Intron;Gene=CYB561D1/NM_182580.2/0;CC=c.186+36T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:16:0:0:10,21:343,676:30.61,0.00:7.33,0.00:23.29,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:35.6,2.9:0,0:0,0:115,96:32,55:25,24:NM_001134400.1(CYB561D1) c.253-540T>G,-:0.3,-:0.413501,- 1 110038882 . G . . NT END=110050052;NT GT ./. 1 110051535 . A . . NT END=110085588;NT GT ./. 1 110086451 rs17575798 G A 180 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=G/0.7831,A/0.2169;Gene=GPR61/NM_031936.4/1;CC=c.807G>A;ProtCh=p.S269=;VC=Silent;DM=GPR61/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:148:103:0:0:61,87:1944,2603:179.94,0.00:89.37,0.00:90.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,7.9:0,1:0,0:84,61:60,89:40,38:NM_031936.4(GPR61) c.807G>A (p.(=)),-:0.21,-:0.170178,- 1 110087001 . T . . NT END=110091342;NT GT ./. 1 110091271 rs3737182 C T 66 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.773,T/0.227;Gene=GNAI3/NM_006496.3/1;CC=c.-72C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:42:37:0:0:1,19,22:10,636,681:0.01,0.00,66.29:0.06,0.00,51.07:-0.05,0.00,15.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:112.0,7.5,40.4:0,0,0:0,0,0:59,30,22:92,121,129:0,19,14:-,NM_006496.3(GNAI3) c.-72C>T:-,0.21:-,NOT_FOUND 1 110091461 . G . . NT END=110116358;NT GT ./. 1 110116402 . G . . NT END=110116517;NT GT ./. 1 110116660 . G . . NT END=110121825;NT GT ./. 1 110121984 . G . . NT END=110125058;NT GT ./. 1 110124888 rs12037970 C T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7676,T/0.2324;PC=0.110;Gene=GNAI3/NM_006496.3/1;CC=c.462-171C>T;VC=Intron;DM=GNAI3/G-alpha GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:15:15:0:0:1,6,8:10,199,259:0.26,0.00,25.55:0.26,0.00,25.55:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:85.0,7.3,37.8:0,0,0:0,0,0:89,22,62:62,128,88:0,21,23:-,NM_006496.3(GNAI3) c.462-171C>T:-,0.21:-,NOT_FOUND 1 110125188 . G . . NT END=110128837;NT GT ./. 1 110128968 . G . . NT END=110129350;NT GT ./. 1 110129505 . G . . NT END=110134664;NT GT ./. 1 110134210 rs397981180 TA T 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TA/0.769,T/0.231;DB;DBA=NA;PAF=TA/0.769,T/0.231;NP=537;PC=0.005;Gene=GNAI3/NM_006496.3/1;CC=c.875-453delA;VC=Intron;DM=GNAI3/G-alpha;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TA,T:5:4:0:4:1,4:36,134:0.00,14.22:0.00,5.22:0.00,9.00:0.00,0.96:0.00,1.00:0.00,0.96:60,60:0.0,0.0:0,0:0,0:142,135:9,15:0,3:-,NM_006496.3(GNAI3) c.875-454delA:-,0.21:-,NOT_FOUND 1 110134856 . G . . NT END=110145975;NT GT ./. 1 110146167 . C . . NT END=110146572;NT GT ./. 1 110146727 . C . . NT END=110148591;NT GT ./. 1 110148722 . C . . NT END=110148929;NT GT ./. 1 110149059 . C . . NT END=110151252;NT GT ./. 1 110151411 . C . . NT END=110152661;NT GT ./. 1 110152804 . C . . NT END=110153086;NT GT ./. 1 110153130 . C . . NT END=110155374;NT GT ./. 1 110153198 rs6658641 G A 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8784,A/0.1216;Gene=GNAT2/NM_005272.3/1;CC=c.119-69C>T;VC=Intron;DM=GNAT2/G-alpha GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:40:18:0:0:17,1,22:542,11,726:50.70,0.02,0.00:17.61,-0.06,0.00:33.09,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.1,50.0,7.6:0,0,0:0,0,0:100,23,98:47,126,53:12,0,21:NM_005272.3(GNAT2) c.119-69C>T,-:0.11,-:0.139728,- 1 110155493 . A . . NT END=110162890;NT GT ./. 1 110155524 rs2304355 T C 98 nt VT=SNV;PN=C;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.8794,C/0.1206;PC=0.006;Gene=GNAT2/NM_005272.3/1;CC=c.-32A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:22:0:0:31,27:1007,835:98.07,0.00:20.63,0.00:77.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,7.1:0,0:0,0:113,112:38,32:22,20:NM_005272.3(GNAT2) c.-32A>G,-:0.11,-:0.134169,- 1 110162901 . G . . NT END=110163202;NT GT ./. 1 110163889 . G . . NT END=110166609;NT GT ./. 1 110166712 . G . . NT END=110167924;NT GT ./. 1 110168415 . G . . NT END=110168781;NT GT ./. 1 110168851 . G . . NT END=110168940;NT GT ./. 1 110168888 rs493972 C G 128 nt VT=SNV;PN=G;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=C/0.1955,G/0.8045;PC=0.561;Gene=AMPD2/NM_001257360.1/1;CC=c.584+38C>G;VC=Intron;Gene=AMPD2/NM_139156.3/0;CC=c.341+38C>G;VC=Intron;Gene=AMPD2/NM_004037.7/0;CC=c.584+38C>G;VC=Intron;Gene=AMPD2/NM_001308170.1/0;CC=c.359+38C>G;VC=Intron;Gene=AMPD2/NM_001257361.1/0;CC=c.230+38C>G;VC=Intron;Gene=AMPD2/NM_203404.1/0;CC=c.227+38C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:104:69:0:0:59,45:1946,1371:0.00,127.58:0.00,60.96:0.00,66.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,38.4:0,0:0,0:78,45:73,106:30,38:-,NM_001257360.1(AMPD2) c.584+38C>G:-,0.78:-,0.673843 1 110169050 . G . . NT END=110169347;NT GT ./. 1 110169535 . G . . NT END=110169796;NT GT ./. 1 110169939 . G . . NT END=110170050;NT GT ./. 1 110169957 rs524998 A G 148 nt VT=SNV;PN=C;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.1496,G/0.8504;Gene=AMPD2/NM_001257360.1/1;CC=c.1022+19A>G;VC=Intron;Gene=AMPD2/NM_139156.3/0;CC=c.779+19A>G;VC=Intron;Gene=AMPD2/NM_004037.7/0;CC=c.1022+19A>G;VC=Intron;Gene=AMPD2/NM_001308170.1/0;CC=c.797+19A>G;VC=Intron;Gene=AMPD2/NM_001257361.1/0;CC=c.668+19A>G;VC=Intron;Gene=AMPD2/NM_203404.1/0;CC=c.665+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:119:72:0:0:68,51:2169,1591:0.00,147.99:0.00,57.77:0.00,90.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,39.7:0,0:0,0:84,89:64,61:32,29:-,NM_001257360.1(AMPD2) c.1022+19A>G:-,0.82:-,0.721282 1 110170141 . G . . NT END=110170395;NT GT ./. 1 110170526 . G . . NT END=110170704;NT GT ./. 1 110170896 rs863978 T C 266 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=184;DB;DBA=NA;PAF=T/0.1923,C/0.8077;PC=0.042;Gene=AMPD2/NM_001257360.1/1;CC=c.1434T>C;ProtCh=p.H478=;VC=Silent;Gene=AMPD2/NM_139156.3/0;CC=c.1191T>C;ProtCh=p.H397=;VC=Silent;Gene=AMPD2/NM_004037.7/0;CC=c.1434T>C;ProtCh=p.H478=;VC=Silent;Gene=AMPD2/NM_001308170.1/0;CC=c.1209T>C;ProtCh=p.H403=;VC=Silent;Gene=AMPD2/NM_001257361.1/0;CC=c.1080T>C;ProtCh=p.H360=;VC=Silent;Gene=AMPD2/NM_203404.1/0;CC=c.1077T>C;ProtCh=p.H359=;VC=Silent;DM=AMPD2/A_deaminase;DM=AMPD2/A_deaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:184:129:0:0:90,94:2788,3043:266.15,0.00:123.60,0.00:142.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,7.0:0,0:0,0:67,57:82,93:43,32:NM_001257360.1(AMPD2) c.1434T>C (p.(=)),-:0.78,-:0.684223,- 1 110170900 . G . . NT END=110170985;NT GT ./. 1 110171118 . G . . NT END=110171264;NT GT ./. 1 110171120 rs41280332 A G 189 nt VT=SNV;PN=T;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=A/0.9982,G/0.001797;NP=24;Gene=AMPD2/NM_001257360.1/1;CC=c.1569+3A>G;VC=Intron;Gene=AMPD2/NM_139156.3/0;CC=c.1326+3A>G;VC=Intron;Gene=AMPD2/NM_004037.7/0;CC=c.1569+3A>G;VC=Intron;Gene=AMPD2/NM_001308170.1/0;CC=c.1344+3A>G;VC=Intron;Gene=AMPD2/NM_001257361.1/0;CC=c.1215+3A>G;VC=Intron;Gene=AMPD2/NM_203404.1/0;CC=c.1212+3A>G;VC=Intron;DM=AMPD2/A_deaminase;DM=AMPD2/A_deaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:115:71:0:0:55,60:1735,1953:0.00,189.36:0.00,106.36:0.00,82.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,44.1:0,0:0,0:75,75:74,74:40,35:-,NM_001257360.1(AMPD2) c.1569+3A>G:-,0.0032:-,0.002614 1 110171429 . G . . NT END=110171730;NT GT ./. 1 110171705 rs523786 A C 146 nt VT=SNV;PN=C;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.1697,C/0.8303;Gene=AMPD2/NM_001257360.1/1;CC=c.1734-26A>C;VC=Intron;Gene=AMPD2/NM_139156.3/0;CC=c.1491-26A>C;VC=Intron;Gene=AMPD2/NM_004037.7/0;CC=c.1734-26A>C;VC=Intron;Gene=AMPD2/NM_001308170.1/0;CC=c.1509-26A>C;VC=Intron;Gene=AMPD2/NM_001257361.1/0;CC=c.1380-26A>C;VC=Intron;Gene=AMPD2/NM_203404.1/0;CC=c.1377-26A>C;VC=Intron;DM=AMPD2/A_deaminase;DM=AMPD2/A_deaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:97:81:0:0:48,48,1:1489,1520,13:0.00,146.00,-0.02:0.00,97.20,-0.15:0.00,48.81,0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.8,35.2,13.0:0,0,0:0,0,0:69,53,1:76,92,150:23,29,0:-,NM_001257360.1(AMPD2) c.1734-26A>C:-,0.8:-,0.703752 1 110171858 . G . . NT END=110171948;NT GT ./. 1 110172113 . G . . NT END=110172417;NT GT ./. 1 110172346 rs5776989 T TG 87 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.15,TG/0.85;DB;DBA=NA;PAF=T/0.15,TG/0.85,TGG/.;NP=2;NP=2846;Gene=AMPD2/NM_001257360.1/1;CC=c.2025-67dupG;VC=Intron;Gene=AMPD2/NM_139156.3/0;CC=c.1782-67dupG;VC=Intron;Gene=AMPD2/NM_004037.7/0;CC=c.2025-67dupG;VC=Intron;Gene=AMPD2/NM_001308170.1/0;CC=c.1800-67dupG;VC=Intron;Gene=AMPD2/NM_001257361.1/0;CC=c.1671-67dupG;VC=Intron;Gene=AMPD2/NM_203404.1/0;CC=c.1668-67dupG;VC=Intron;DM=AMPD2/A_deaminase;DM=AMPD2/A_deaminase;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TG:51:46:28:0:1,22,28:11,634,882:0.03,0.00,86.69:0.08,0.00,69.75:-0.05,0.00,16.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:59.0,15.0,41.3:1,1,0:0,0,0:96,42,43:55,107,107:0,19,24:-,NM_001257360.1(AMPD2) c.2025-72_2025-71insG:-,NOT_FOUND:-,NOT_FOUND 1 110172362 rs2269341 C T 126 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.6366,T/0.3634;Gene=AMPD2/NM_001257360.1/1;CC=c.2025-56C>T;VC=Intron;Gene=AMPD2/NM_139156.3/0;CC=c.1782-56C>T;VC=Intron;Gene=AMPD2/NM_004037.7/0;CC=c.2025-56C>T;VC=Intron;Gene=AMPD2/NM_001308170.1/0;CC=c.1800-56C>T;VC=Intron;Gene=AMPD2/NM_001257361.1/0;CC=c.1671-56C>T;VC=Intron;Gene=AMPD2/NM_203404.1/0;CC=c.1668-56C>T;VC=Intron;DM=AMPD2/A_deaminase;DM=AMPD2/A_deaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:60:55:0:0:21,1,38:636,5,1243:0.00,-0.12,125.70:0.00,-0.08,99.53:0.00,-0.04,26.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.4,31.0,42.3:0,0,0:0,0,0:52,102,52:98,49,98:18,0,35:-,NM_001257360.1(AMPD2) c.2025-56C>T:-,0.4:-,NOT_FOUND 1 110172539 . G . . NT END=110172854;NT GT ./. 1 110173029 . G . . NT END=110173304;NT GT ./. 1 110173213 . C G 7 sb;end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;Gene=AMPD2/NM_001257360.1/1;CC=c.2320-92C>G;VC=Intron;Gene=AMPD2/NM_139156.3/0;CC=c.2077-92C>G;VC=Intron;Gene=AMPD2/NM_004037.7/0;CC=c.2320-92C>G;VC=Intron;Gene=AMPD2/NM_001308170.1/0;CC=c.2095-92C>G;VC=Intron;Gene=AMPD2/NM_001257361.1/0;CC=c.1966-92C>G;VC=Intron;Gene=AMPD2/NM_203404.1/0;CC=c.1963-92C>G;VC=Intron;DM=AMPD2/A_deaminase;DM=AMPD2/A_deaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:C,G,T:26:22:0:0:21,4,1:657,95,9:0.00,6.66,-0.11:0.00,-1.49,-0.10:0.00,8.15,-0.01:0.00,0.67,0.00:0.00,0.93,0.00:0.00,0.56,0.00:60,60,60:26.2,44.8,18.0:0,0,0:0,0,0:39,7,64:111,144,87:28,3,0:-,NM_001257360.1(AMPD2) c.2320-92C>G:-,NOT_FOUND:-,NOT_FOUND 1 110173416 . G . . NT END=110173564;NT GT ./. 1 110173775 . G . . NT END=110199011;NT GT ./. 1 110199048 . G . . NT END=110199333;NT GT ./. 1 110199172 rs60189163 CTG C 20 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=3;Gene=GSTM4/NM_000850.4/0;CC=c.37-123_37-122delTG;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.37-123_37-122delTG;VC=Intron;DM=GSTM4/GST_N;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTG,C:19:16:0:18:12,7:339,530:0.00,19.84:0.00,12.19:0.00,7.64:0.00,0.95:0.00,0.96:0.00,0.95:60,60:17.4,77.4:0,11:0,0:130,89:21,58:13,17:-,NM_000850.4(GSTM4) c.36+126_36+127delTG:-,NOT_FOUND:-,NOT_FOUND 1 110199225 rs140231844 TG T 18 rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=TG/0.3666,T/0.6334;NP=990;Gene=GSTM4/NM_000850.4/0;CC=c.37-99delG;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.37-99delG;VC=Intron;DM=GSTM4/GST_N;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G,TG,T:27:19:0:9:1,5,13,8:11,100,291,201:0.14,7.62,0.00,17.73:0.22,5.72,0.00,14.50:-0.08,1.90,0.00,3.23:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.91:60,60,60,60:71.0,86.4,33.9,27.5:0,3,0,0:0,0,0,0:132,101,95,43:11,46,34,107:0,3,47,25:-,NM_000850.4(GSTM4) c.37-108delG:-,NOT_FOUND:-,NOT_FOUND 1 110199410 . G . . NT END=110199836;NT GT ./. 1 110199902 . G . . NT END=110200211;NT GT ./. 1 110200294 . G . . NT END=110200393;NT GT ./. 1 110200360 rs560018 T C 330 nt VT=SNV;PN=A;NN=G;SST=Single;DP=216;DB;DBA=NA;PAF=T/0.845,C/0.155;Gene=GSTM4/NM_000850.4/0;CC=c.260-34T>C;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.260-34T>C;VC=Intron;DM=GSTM4/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:216:150:0:0:110,1,105:3419,20,3380:329.60,0.17,0.00:187.01,0.28,0.00:142.59,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.4,133.0,7.2:0,0,0:0,0,0:65,53,62:83,98,89:37,0,39:NM_000850.4(GSTM4) c.260-34T>C,-:0.19,-:0.285868,- 1 110200495 . G . . NT END=110201435;NT GT ./. 1 110201126 rs535537 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1048,G/0.8952;Gene=GSTM4/NM_000850.4/0;CC=c.361-310A>G;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.361-310A>G;VC=Intron;DM=GSTM4/GST_C;DM=GSTM4/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:115:13.40:13.40:0.00:1.00:1.00:0.00:60:87.5:0:0:26:114:7:NM_000850.4(GSTM4) c.361-310A>G,NM_000850.4(GSTM4) c.361-310A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 110201532 . G . . NT END=110201621;NT GT ./. 1 110201580 rs650985 C T 207 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.02037,T/0.9796;Gene=GSTM4/NM_000850.4/0;CC=c.457-42C>T;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.457-42C>T;VC=Intron;DM=GSTM4/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:T:58:39:0:0:58:1796:207.06:117.26:89.80:1.00:1.00:1.00:60:55.7:0:0:44:106:36:NM_000850.4(GSTM4) c.457-42C>T,NM_000850.4(GSTM4) c.457-42C>T:0.98,0.98:0.95702,0.95702 1 110201699 rs506008 T C 256 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.1947,C/0.8053;PC=0.022;Gene=GSTM4/NM_000850.4/0;CC=c.534T>C;ProtCh=p.F178=;VC=Silent;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.534T>C;ProtCh=p.F178=;VC=Silent;DM=GSTM4/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:41:0:0:68:2241:256.44:115.88:140.56:1.00:1.00:1.00:60:55.0:0:0:81:68:31:NM_000850.4(GSTM4) c.534T>C (p.(=)),NM_000850.4(GSTM4) c.534T>C (p.(=)):0.74,0.74:0.785462,0.785462 1 110201733 . G . . NT END=110203786;NT GT ./. 1 110201809 rs562996 G T 85 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.126,T/0.874;Gene=GSTM4/NM_000850.4/0;CC=c.567+77G>T;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.567+77G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:G,T:24:4:0:0:1,23:35,763:0.00,85.46:0.00,8.36:0.00,77.11:0.00,1.00:0.00,1.00:0.00,1.00:39,60:34.0,80.8:0,0:0,0:142,99:6,52:0,32:NM_000850.4(GSTM4) c.567+77G>T,NM_000850.4(GSTM4) c.567+77G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 110201812 rs563003 A G 92 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.126,G/0.874;Gene=GSTM4/NM_000850.4/0;CC=c.567+80A>G;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.567+80A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:A,G:25:3:0:0:1,24:32,821:0.00,91.72:0.00,9.35:0.00,82.38:0.00,1.00:0.00,1.00:0.00,1.00:39,60:34.0,78.8:0,0:0,0:145,98:3,52:0,36:NM_000850.4(GSTM4) c.567+80A>G,NM_000850.4(GSTM4) c.567+80A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 110203554 rs510651 G T 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1088,T/0.8912;Gene=GSTM4/NM_000850.4/0;CC=c.568-233G>T;VC=Intron;Gene=GSTM4/NR_024538.1/0;VC=NonCoding;Gene=GSTM4/NM_147148.2/1;CC=c.567+1822G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G,T:16:16:0:0:2,14:25,402:0.00,44.39:0.00,44.39:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,43:5.0,45.1:0,0:0,0:70,29:81,121:54,11:NM_000850.4(GSTM4) c.568-233G>T,NM_000850.4(GSTM4) c.568-233G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 110204332 . G . . NT END=110207632;NT GT ./. 1 110207654 . t . . NT END=110210737;NT GT ./. 1 110210774 . G . . NT END=110211046;NT GT ./. 1 110210780 rs530021 C G 353 nt VT=SNV;PN=C;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.09525,A/.,G/0.9048;Gene=GSTM2/NM_000848.3/0;CC=c.36+7C>G;VC=Intron;Gene=GSTM2/NM_001142368.1/1;CC=c.36+7C>G;VC=Intron;DM=GSTM2/GST_N;DM=GSTM2/GST_C;DM=GSTM2/GST_N;DM=GSTM2/GST_N;DM=GSTM2/GST_N;DM=GSTM2/GST_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:99:71:0:0:99:3064:353.31:168.22:185.09:1.00:1.00:1.00:60:47.2:0:0:86:58:28:NM_000848.3(GSTM2) c.36+7C>G,NM_000848.3(GSTM2) c.36+7C>G:0.92,0.92:0.911733,0.911733 1 110211123 . G . . NT END=110211546;NT GT ./. 1 110211612 . G . . NT END=110211911;NT GT ./. 1 110211681 rs28623664 G C 249 nt VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=GSTM2/NM_000848.3/0;CC=c.177+70G>C;VC=Intron;Gene=GSTM2/NM_001142368.1/1;CC=c.177+70G>C;VC=Intron;DM=GSTM2/GST_N;DM=GSTM2/GST_C;DM=GSTM2/GST_N;DM=GSTM2/GST_N;DM=GSTM2/GST_N;DM=GSTM2/GST_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:16:0:0:67:2167:248.64:60.13:188.51:1.00:1.00:1.00:40:44.5:0:0:88:63:37:NM_000848.3(GSTM2) c.177+70G>C,NM_000848.3(GSTM2) c.177+70G>C:0.51,0.51:NOT_FOUND,NOT_FOUND 1 110211994 . G . . NT END=110212092;NT GT ./. 1 110212194 . G . . NT END=110213908;NT GT ./. 1 110214005 . G . . NT END=110214094;NT GT ./. 1 110214206 . G . . NT END=110217368;NT GT ./. 1 110214370 rs72705222 C T 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9846,T/0.01538;PC=0.027;Gene=GSTM2/NM_000848.3/0;CC=c.567+165C>T;VC=Intron;Gene=GSTM2/NM_001142368.1/1;CC=c.567+165C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:8,7:243,233:0.00,22.14:0.00,0.00:0.00,22.14:0.00,0.99:0.00,0.00:0.00,0.99:60,60:10.5,33.3:0,0:0,0:93,99:57,52:27,22:-,NM_000848.3(GSTM2) c.567+165C>T:-,0.02:-,NOT_FOUND 1 110217909 . T . . NT END=110224430;NT GT ./. 1 110217924 rs611951 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=6;Gene=GSTM2/NM_001142368.1/1;CC=c.567+3719G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:9:0:0:10:257:30.38:26.60:3.78:1.00:1.00:1.00:27:44.8:0:0:113:37:17:NM_001142368.1(GSTM2) c.567+3719G>A,NM_001142368.1(GSTM2) c.567+3719G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 110218047 rs4147577 C T 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=162;Gene=GSTM2/NM_001142368.1/1;CC=c.567+3842C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:276:32.30:0.00:32.30:1.00:0.00:1.00:27:46.6:0:0:39:111:8:NM_001142368.1(GSTM2) c.567+3842C>T,NM_001142368.1(GSTM2) c.567+3842C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 110224440 . T . . NT END=110230495;NT GT ./. 1 110230532 . G . . NT END=110230738;NT GT ./. 1 110230767 rs10857795 G A 718 lc VT=SNV;PN=C;NN=C;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.1058,A/0.8942,C/.;Gene=GSTM1/NM_000561.3/1;CC=c.37-25G>A;VC=Intron;Gene=GSTM1/NM_146421.2/0;CC=c.37-25G>A;VC=Intron;DM=GSTM1/GST_N;DM=GSTM1/GST_N;DM=GSTM1/GST_N;DM=GSTM1/GST_N;DM=GSTM1/GST_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:196:147:0:0:195,1:6261,9:718.30,0.04:412.17,0.00:306.13,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,98.0:0,0:0,0:69,129:78,22:30,0:NM_000561.3(GSTM1) c.37-25G>A,NM_000561.3(GSTM1) c.37-25G>A:0.88,0.88:0.819355,0.819355 1 110230868 . G . . NT END=110231294;NT GT ./. 1 110231360 . G . . NT END=110231669;NT GT ./. 1 110231592 rs737497 T C 497 nt VT=SNV;PN=C;NN=C;SST=Single;DP=141;DB;DBA=NA;PAF=T/0.6869,C/0.3131;Gene=GSTM1/NM_000561.3/1;CC=c.178-78T>C;VC=Intron;Gene=GSTM1/NM_146421.2/0;CC=c.178-78T>C;VC=Intron;DM=GSTM1/GST_N;DM=GSTM1/GST_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:141:113:0:0:139,2:4350,46:497.08,0.00:359.13,0.00:137.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,43.5:0,0:0,0:43,45:106,104:26,14:NM_000561.3(GSTM1) c.178-78T>C,NM_000561.3(GSTM1) c.178-78T>C:0.26,0.26:NOT_FOUND,NOT_FOUND 1 110231752 . G . . NT END=110231846;NT GT ./. 1 110231777 rs4147565 G A 357 nt VT=SNV;PN=T;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=G/0.7458,A/0.2542,C/.,T/.;Gene=GSTM1/NM_000561.3/1;CC=c.259+26G>A;VC=Intron;Gene=GSTM1/NM_146421.2/0;CC=c.259+26G>A;VC=Intron;DM=GSTM1/GST_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:235:150:0:0:117,2,115,1:3707,12,3778,11:356.53,-0.39,0.00,-0.15:181.73,-0.21,0.00,-0.09:174.80,-0.18,0.00,-0.05:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:43.2,87.5,6.4,52.0:0,0,0,0:0,0,0,0:71,16,75,111:80,135,68,40:48,11,43,0:NM_000561.3(GSTM1) c.259+26G>A,-:0.17,-:0.18356,- 1 110231948 . G . . NT END=110232892;NT GT ./. 1 110232801 rs756637 A G 151 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.1062,G/0.8938;Gene=GSTM1/NM_000561.3/1;CC=c.361-92A>G;VC=Intron;Gene=GSTM1/NM_146421.2/0;CC=c.361-92A>G;VC=Intron;DM=GSTM1/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:46:45:0:0:46:1291:150.59:139.11:11.48:1.00:1.00:1.00:60:39.4:0:0:44:106:34:NM_000561.3(GSTM1) c.361-92A>G,NM_000561.3(GSTM1) c.361-92A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 110232989 . G . . NT END=110233075;NT GT ./. 1 110233138 rs74837985 G C 311 lc VT=SNV;PN=A;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;PC=0.007;Gene=GSTM1/NM_000561.3/1;CC=c.519G>C;ProtCh=p.K173N;VC=Missense;Gene=GSTM1/NM_146421.2/0;CC=c.456+150G>C;VC=Intron;DM=GSTM1/GST_C;DM=GSTM1/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:81:48:0:0:81:2725:311.04:127.62:183.41:1.00:1.00:1.00:60:46.2:0:0:69:78:29:NM_000561.3(GSTM1) c.519G>C (p.Lys173Asn),NM_000561.3(GSTM1) c.519G>C (p.Lys173Asn):0.44,0.44:0.289537,0.289537 1 110233187 . G . . NT END=110235827;NT GT ./. 1 110233247 rs11101983 T C 155 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.1767,C/0.8233;Gene=GSTM1/NM_000561.3/1;CC=c.567+61T>C;VC=Intron;Gene=GSTM1/NM_146421.2/0;CC=c.456+259T>C;VC=Intron;DM=GSTM1/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:A,C:42:7:0:0:1,41:34,1361:2.26,155.19:0.00,15.83:2.26,139.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,60.4:0,0:0,0:58,104:92,45:0,30:NM_000561.3(GSTM1) c.567+61T>C,NM_000561.3(GSTM1) c.567+61T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 110235607 rs200768458 A G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.9052,G/0.09485;NP=120;Gene=GSTM1/NM_000561.3/1;CC=c.568-221A>G;VC=Intron;Gene=GSTM1/NM_146421.2/0;CC=c.457-221A>G;VC=Intron;DM=GSTM1/GST_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:31:0:0:15,16:458,412:0.00,39.42:0.00,39.42:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:49,51:18.8,40.1:0,0:0,0:29,54:122,92:14,37:-,NM_000561.3(GSTM1) c.568-221A>G:-,NOT_FOUND:-,NOT_FOUND 1 110236368 . T . . NT END=110240806;NT GT ./. 1 110240829 . t . . NT END=110254934;NT GT ./. 1 110254578 rs1758105 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1134,A/0.8866 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:71.0:0:0:47:104:22:NM_000851.3(GSTM5) c.-71-u286G>A,NM_000851.3(GSTM5) c.-71-u286G>A:0.89,0.89:NOT_FOUND,NOT_FOUND 1 110254678 rs1758104 G T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1591,T/0.8409 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:G,T:6:6:0:0:3,3:85,85:0.00,8.13:0.00,8.13:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:20.0,55.0:0,0:0,0:58,95:92,56:50,39:-,NM_000851.3(GSTM5) c.-71-u186G>T:-,0.85:-,NOT_FOUND 1 110254971 . G . . NT END=110255239;NT GT ./. 1 110255316 . G . . NT END=110255739;NT GT ./. 1 110255806 . G . . NT END=110256105;NT GT ./. 1 110256188 . G . . NT END=110256282;NT GT ./. 1 110256384 . G . . NT END=110257568;NT GT ./. 1 110257665 . G . . NT END=110257751;NT GT ./. 1 110257863 . G . . NT END=110259958;NT GT ./. 1 110260049 . G . . NT END=110279692;NT GT ./. 1 110279792 . C . . NT END=110280078;NT GT ./. 1 110280190 . C . . NT END=110280277;NT GT ./. 1 110280374 . C . . NT END=110280712;NT GT ./. 1 110280814 . C . . NT END=110280906;NT GT ./. 1 110280989 . C . . NT END=110282050;NT GT ./. 1 110282116 . C . . NT END=110282454;NT GT ./. 1 110282531 . C . . NT END=110282861;NT GT ./. 1 110282910 . G . . NT END=110293012;NT GT ./. 1 110293025 . C . . NT END=110293281;NT GT ./. 1 110293415 . C . . NT END=110293899;NT GT ./. 1 110293974 . C . . NT END=110294275;NT GT ./. 1 110294405 . C . . NT END=110294616;NT GT ./. 1 110294816 . C . . NT END=110295307;NT GT ./. 1 110295343 . C . . NT END=110295738;NT GT ./. 1 110295553 rs58548898 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9453,T/0.05471;Gene=EPS8L3/NM_024526.3/0;CC=c.1200+186G>A;VC=Intron;Gene=EPS8L3/NM_133181.3/1;CC=c.1200+186G>A;VC=Intron;Gene=EPS8L3/NM_139053.2/0;CC=c.1203+186G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:12:6:0:0:8,4:266,132:0.00,11.79:0.00,6.00:0.00,5.80:0.00,0.80:0.00,0.89:0.00,0.89:60,60:16.6,35.8:0,0:0,0:17,76:133,75:11,45:-,NM_139053.2(EPS8L3) c.1203+186G>A:-,0.05:-,NOT_FOUND 1 110295821 . C . . NT END=110299638;NT GT ./. 1 110299788 . C . . NT END=110300102;NT GT ./. 1 110300178 . C . . NT END=110300423;NT GT ./. 1 110300441 rs3818562 G A 91 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.5268,A/0.4732;PC=0.995;Gene=EPS8L3/NM_024526.3/0;CC=c.877C>T;ProtCh=p.H293Y;VC=Missense;Gene=EPS8L3/NM_133181.3/1;CC=c.877C>T;ProtCh=p.H293Y;VC=Missense;Gene=EPS8L3/NM_139053.2/0;CC=c.880C>T;ProtCh=p.H294Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:58:0:0:32,42:973,1434:90.54,0.00:57.30,0.00:33.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.5,25.0:0,0:0,0:70,70:79,77:41,38:NM_139053.2(EPS8L3) c.880C>T (p.His294Tyr),-:0.48,-:0.403429,- 1 110300486 . C . . NT END=110300565;NT GT ./. 1 110300504 rs10776700 A G 327 nt VT=SNV;PN=G;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.007588,C/.,G/0.9924;Gene=EPS8L3/NM_024526.3/0;CC=c.833-19T>C;VC=Intron;Gene=EPS8L3/NM_133181.3/1;CC=c.833-19T>C;VC=Intron;Gene=EPS8L3/NM_139053.2/0;CC=c.836-19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:64:0:0:86:2857:326.65:197.65:129.00:1.00:1.00:1.00:60:46.6:0:0:64:86:33:NM_139053.2(EPS8L3) c.836-19T>C,NM_139053.2(EPS8L3) c.836-19T>C:0.99,0.99:0.981931,0.981931 1 110300681 . C . . NT END=110300937;NT GT ./. 1 110301054 . C . . NT END=110301145;NT GT ./. 1 110301289 . C . . NT END=110301683;NT GT ./. 1 110301740 . C . . NT END=110301859;NT GT ./. 1 110301766 rs35360175 AGT A 85 idl,rn VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=114;Gene=EPS8L3/NM_024526.3/0;CC=c.406-29_406-28delAC;VC=Intron;Gene=EPS8L3/NM_133181.3/1;CC=c.406-29_406-28delAC;VC=Intron;Gene=EPS8L3/NM_139053.2/0;CC=c.406-29_406-28delAC;VC=Intron;DM=EPS8L3/PTB;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGT,A:57:52:0:47:28,29:930,1368:0.00,85.02:0.00,48.08:0.00,36.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,18.6:0,16:0,0:121,67:27,83:13,22:-,NM_139053.2(EPS8L3) c.406-29_406-28delAC:-,NOT_FOUND:-,NOT_FOUND 1 110302010 . C . . NT END=110302299;NT GT ./. 1 110302459 . C . . NT END=110304116;NT GT ./. 1 110302546 rs150209958 A G 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.9984,G/0.001597;NP=18;PC=0.001;Gene=EPS8L3/NM_024526.3/0;CC=c.97-88T>C;VC=Intron;Gene=EPS8L3/NM_133181.3/1;CC=c.97-88T>C;VC=Intron;Gene=EPS8L3/NM_139053.2/0;CC=c.97-88T>C;VC=Intron;DM=EPS8L3/PTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:2:0:0:22,23:722,742:0.00,71.64:0.00,1.64:0.00,70.00:0.00,1.00:0.00,0.80:0.00,1.00:60,60:2.9,39.3:0,0:0,0:114,117:35,31:30,21:-,NM_139053.2(EPS8L3) c.97-88T>C:-,0.0027:-,NOT_FOUND 1 110304182 . C . . NT END=110304340;NT GT ./. 1 110304372 . G . . NT END=110453645;NT GT ./. 1 110453685 . G . . NT END=110456880;NT GT ./. 1 110456866 rs2297706 C A 128 nt VT=SNV;PN=A;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.6757,A/0.3243;Gene=CSF1/NM_172210.2/0;CC=c.40-15C>A;VC=Intron;Gene=CSF1/NM_172212.2/0;CC=c.40-15C>A;VC=Intron;Gene=CSF1/NM_000757.5/1;CC=c.40-15C>A;VC=Intron;Gene=CSF1/NM_172211.3/0;CC=c.40-15C>A;VC=Intron;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:108:83:0:0:46,61,1:1374,1928,10:127.53,0.00,-0.15:88.44,0.00,-0.14:39.08,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.9,11.5,54.0:0,0,0:0,0,0:66,60,9:82,88,142:32,35,0:NM_000757.5(CSF1) c.40-15C>A,-:0.31,-:0.242119,- 1 110457004 . G . . NT END=110458255;NT GT ./. 1 110458234 rs2275123 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8083,A/0.1917;Gene=CSF1/NM_172210.2/0;CC=c.163-22G>A;VC=Intron;Gene=CSF1/NM_172212.2/0;CC=c.163-22G>A;VC=Intron;Gene=CSF1/NM_000757.5/1;CC=c.163-22G>A;VC=Intron;Gene=CSF1/NM_172211.3/0;CC=c.163-22G>A;VC=Intron;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:A,G:26:22:0:0:6,20:183,547:15.09,0.00:12.53,0.00:2.56,0.00:0.91,0.00:0.99,0.00:0.91,0.00:60,60:39.8,17.4:0,0:0,0:78,57:64,88:39,25:NM_000757.5(CSF1) c.163-22G>A,-:0.21,-:0.171921,- 1 110458319 . G . . NT END=110459914;NT GT ./. 1 110459773 rs333967 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6899,T/0.3101;PC=0.001;Gene=CSF1/NM_172210.2/0;CC=c.226-142C>T;VC=Intron;Gene=CSF1/NM_172212.2/0;CC=c.226-142C>T;VC=Intron;Gene=CSF1/NM_000757.5/1;CC=c.226-142C>T;VC=Intron;Gene=CSF1/NM_172211.3/0;CC=c.226-142C>T;VC=Intron;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1;DM=CSF1/CSF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:15,10:480,230:0.00,20.39:0.00,20.39:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.5,49.1:0,0:0,0:76,74:75,77:36,21:-,NM_000757.5(CSF1) c.226-142C>T:-,0.3:-,NOT_FOUND 1 110460086 . G . . NT END=110464468;NT GT ./. 1 110464617 . G . . NT END=110465787;NT GT ./. 1 110466466 rs1058885 T C 414 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=T/0.5785,C/0.4215;Gene=CSF1/NM_172210.2/0;CC=c.1090+133T>C;VC=Intron;Gene=CSF1/NM_172212.2/0;CC=c.1223T>C;ProtCh=p.L408P;VC=Missense;Gene=CSF1/NM_000757.5/1;CC=c.1223T>C;ProtCh=p.L408P;VC=Missense;Gene=CSF1/NM_172211.3/0;CC=c.545-216T>C;VC=Intron;DM=CSF1/CSF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:119:75:0:0:119:3573:413.69:201.97:211.72:1.00:1.00:1.00:60:38.2:0:0:84:67:39:NM_000757.5(CSF1) c.1223T>C (p.Leu408Pro),NM_000757.5(CSF1) c.1223T>C (p.Leu408Pro):0.43,0.43:0.39551,0.39551 1 110466709 rs333971 T C 416 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=T/0.003195,C/0.9968;NP=3463;Gene=CSF1/NM_172210.2/0;CC=c.1118T>C;ProtCh=p.F373S;VC=Missense;Gene=CSF1/NM_172212.2/0;CC=c.1466T>C;ProtCh=p.F489S;VC=Missense;Gene=CSF1/NM_000757.5/1;CC=c.1466T>C;ProtCh=p.F489S;VC=Missense;Gene=CSF1/NM_172211.3/0;CC=c.572T>C;ProtCh=p.F191S;VC=Missense;DM=CSF1/CSF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:112:73:0:0:111,1:3645,9:415.61,0.00:178.83,0.00:236.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,131.0:0,2:0,0:88,86:60,65:26,0:NM_000757.5(CSF1) c.=,NM_000757.5(CSF1) c.=:1,1:0.996848,0.996848 1 110466810 rs2229166 C A 74 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.6835,A/0.3165,T/.;PC=0.995;Gene=CSF1/NM_172210.2/0;CC=c.1219C>A;ProtCh=p.R407=;VC=Silent;Gene=CSF1/NM_172212.2/0;CC=c.1567C>A;ProtCh=p.R523=;VC=Silent;Gene=CSF1/NM_000757.5/1;CC=c.1567C>A;ProtCh=p.R523=;VC=Silent;Gene=CSF1/NM_172211.3/0;CC=c.673C>A;ProtCh=p.R225=;VC=Silent;DM=CSF1/CSF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:64:24:0:0:24,40:804,1171:73.54,0.00:11.31,0.00:62.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.9,19.3:0,0:0,0:118,93:32,57:18,34:NM_000757.5(CSF1) c.1567C>A (p.(=)),-:0.31,-:0.236472,- 1 110466813 . G . . NT END=110467397;NT GT ./. 1 110467451 . G . . NT END=110467768;NT GT ./. 1 110467745 rs333972 A G 220 nt VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.003195,G/0.9968;NP=3480;Gene=CSF1/NM_172210.2/0;CC=c.1275-24A>G;VC=Intron;Gene=CSF1/NM_172212.2/0;CC=c.1623-24A>G;VC=Intron;Gene=CSF1/NM_000757.5/1;CC=c.1623-24A>G;VC=Intron;Gene=CSF1/NM_172211.3/0;CC=c.729-24A>G;VC=Intron;DM=CSF1/CSF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:G:57:43:0:0:57:1925:219.63:110.98:108.65:1.00:1.00:1.00:60:40.2:0:0:46:93:22:NM_000757.5(CSF1) c.1623-24A>G,NM_000757.5(CSF1) c.1623-24A>G:1,1:0.996848,0.996848 1 110467812 . A . . NT END=110527675;NT GT ./. 1 110527452 rs11424431 G GC 171 nt VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=3;PC=0.038;Gene=AHCYL1/NM_001242673.1/0;CC=c.-735_-734insC;VC=5UTR;Gene=AHCYL1/NM_006621.5/1;CC=c.-223_-222insC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:G,GC:50:50:48:1:2,48:20,1511:0.00,170.89:0.00,170.89:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.5,12.9:2,0:0,0:75,66:75,84:13,38:NM_006621.5(AHCYL1) c.=,NM_006621.5(AHCYL1) c.=:1,1:NOT_FOUND,NOT_FOUND 1 110528167 . T . . NT END=110538272;NT GT ./. 1 110538152 rs191261140 C T 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9958,T/0.004193;NP=32;PC=0.180;Gene=AHCYL1/NM_001242673.1/0;CC=c.-22+9987C>T;VC=Intron;Gene=AHCYL1/NM_006621.5/1;CC=c.120+10358C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:C,T:15:14:0:0:9,6:294,181:0.00,16.58:0.00,13.90:0.00,2.68:0.00,0.96:0.00,1.00:0.00,0.60:60,60:2.6,66.3:0,0:0,0:54,18:97,118:46,16:-,NM_006621.5(AHCYL1) c.120+10358C>T:-,0.01:-,NOT_FOUND 1 110538325 . G . . NT END=110543548;NT GT ./. 1 110543611 . G . . NT END=110546569;NT GT ./. 1 110547074 . G . . NT END=110551655;NT GT ./. 1 110551768 . G . . NT END=110553835;NT GT ./. 1 110553980 . G . . NT END=110554983;NT GT ./. 1 110555085 . G . . NT END=110555518;NT GT ./. 1 110555138 . A AT 7 rn VT=INS;SST=Single;DP=31;NP=2;Gene=AHCYL1/NM_001242673.1/0;CC=c.336+66dupT;VC=Intron;Gene=AHCYL1/NM_006621.5/1;CC=c.477+66dupT;VC=Intron;Gene=AHCYL1/NM_001242674.1/0;CC=c.336+66dupT;VC=Intron;Gene=AHCYL1/NM_001242675.1/0;CC=c.336+66dupT;VC=Intron;Gene=AHCYL1/NM_001242676.1/0;CC=c.336+66dupT;VC=Intron;DM=AHCYL1/AdoHcyase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,AT,D:31:9:3:2:26,3,2:802,98,64:0.00,7.04,4.22:0.00,-0.24,-0.16:0.00,7.29,4.38:0.00,0.42,0.00:0.00,0.54,0.00:0.00,0.87,0.00:60,60,60:13.1,11.7,0.0:0,0,0:0,0,0:127,110,94:22,41,57:13,20,36:-,NM_006621.5(AHCYL1) c.477+54_477+55insT:-,NOT_FOUND:-,NOT_FOUND 1 110555622 . G . . NT END=110557384;NT GT ./. 1 110557480 . G . . NT END=110558046;NT GT ./. 1 110558154 . G . . NT END=110558965;NT GT ./. 1 110558276 rs77065498 A AC 49 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.03754,AC/0.9625;DB;DBA=NA;PAF=NA;NP=2429;PC=0.670;Gene=AHCYL1/NM_001242673.1/0;CC=c.641+123_641+124insC;VC=Intron;Gene=AHCYL1/NM_006621.5/1;CC=c.782+123_782+124insC;VC=Intron;Gene=AHCYL1/NM_001242674.1/0;CC=c.641+123_641+124insC;VC=Intron;Gene=AHCYL1/NM_001242675.1/0;CC=c.641+123_641+124insC;VC=Intron;Gene=AHCYL1/NM_001242676.1/0;CC=c.641+123_641+124insC;VC=Intron;DM=AHCYL1/AdoHcyase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:AC:15:0:15:0:15:419:49.02:0.00:49.02:1.00:0.00:1.00:70:16.8:0:0:51:99:39:NM_006621.5(AHCYL1) c.782+123_782+124insC,NM_006621.5(AHCYL1) c.782+123_782+124insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 110559083 . G . . NT END=110559288;NT GT ./. 1 110559353 . G . . NT END=110560116;NT GT ./. 1 110560206 . G . . NT END=110560567;NT GT ./. 1 110560639 . G . . NT END=110560994;NT GT ./. 1 110560915 rs186724 C T 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.9195,T/0.08047;Gene=AHCYL1/NM_001242673.1/0;CC=c.983-80C>T;VC=Intron;Gene=AHCYL1/NM_006621.5/1;CC=c.1124-80C>T;VC=Intron;Gene=AHCYL1/NM_001242674.1/0;CC=c.983-80C>T;VC=Intron;Gene=AHCYL1/NM_001242675.1/0;CC=c.983-80C>T;VC=Intron;Gene=AHCYL1/NM_001242676.1/0;CC=c.983-80C>T;VC=Intron;DM=AHCYL1/AdoHcyase_NAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:29:0:0:13,21:405,665:0.00,66.70:0.00,52.65:0.00,14.05:0.00,1.00:0.00,1.00:0.00,0.99:60,60:9.0,35.0:0,0:0,0:60,35:91,116:29,26:-,NM_006621.5(AHCYL1) c.1124-80C>T:-,0.1:-,NOT_FOUND 1 110561090 . G . . NT END=110561173;NT GT ./. 1 110561273 . G . . NT END=110561672;NT GT ./. 1 110561742 . G . . NT END=110562169;NT GT ./. 1 110562249 . G . . NT END=110563352;NT GT ./. 1 110563153 rs145143338 GC G 25 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=GC/0.9794,G/0.02057;NP=239;PC=0.120;Gene=AHCYL1/NM_001242673.1/0;CC=c.1325-199delC;VC=Intron;Gene=AHCYL1/NM_006621.5/1;CC=c.1466-199delC;VC=Intron;Gene=AHCYL1/NM_001242674.1/0;CC=c.1325-199delC;VC=Intron;Gene=AHCYL1/NM_001242675.1/0;CC=c.1325-199delC;VC=Intron;Gene=AHCYL1/NM_001242676.1/0;CC=c.1325-199delC;VC=Intron;DM=AHCYL1/AdoHcyase_NAD;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:15:15:0:8:7,8:244,255:0.00,24.81:0.00,24.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:38.7,6.6:0,0:0,0:29,39:122,112:11,16:-,NM_006621.5(AHCYL1) c.1466-199delC:-,0.03:-,NOT_FOUND 1 110563192 . T G 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;NP=4;PC=0.013;Gene=AHCYL1/NM_001242673.1/0;CC=c.1325-161T>G;VC=Intron;Gene=AHCYL1/NM_006621.5/1;CC=c.1466-161T>G;VC=Intron;Gene=AHCYL1/NM_001242674.1/0;CC=c.1325-161T>G;VC=Intron;Gene=AHCYL1/NM_001242675.1/0;CC=c.1325-161T>G;VC=Intron;Gene=AHCYL1/NM_001242676.1/0;CC=c.1325-161T>G;VC=Intron;DM=AHCYL1/AdoHcyase_NAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:21:0:0:12,9:383,235:37.84,0.00:37.84,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.9,11.0:0,0:0,0:50,68:99,83:29,17:NM_006621.5(AHCYL1) c.1466-161T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 110563474 . G . . NT END=110564295;NT GT ./. 1 110564303 . T . . NT END=110577259;NT GT ./. 1 110577440 . G . . NT END=110580512;NT GT ./. 1 110580583 . G . . NT END=110581304;NT GT ./. 1 110581380 . G . . NT END=110581793;NT GT ./. 1 110581929 . G . . NT END=110582016;NT GT ./. 1 110582138 . G . . NT END=110582445;NT GT ./. 1 110582560 . G . . NT END=110583256;NT GT ./. 1 110583326 . G . . NT END=110584157;NT GT ./. 1 110584265 . G . . NT END=110584355;NT GT ./. 1 110584484 . G . . NT END=110585709;NT GT ./. 1 110585893 . G . . NT END=110586260;NT GT ./. 1 110586479 . G . . NT END=110587461;NT GT ./. 1 110587528 . G . . NT END=110587636;NT GT ./. 1 110587701 . G . . NT END=110589301;NT GT ./. 1 110589374 . G . . NT END=110590163;NT GT ./. 1 110590239 . G . . NT END=110590393;NT GT ./. 1 110590492 . G . . NT END=110591733;NT GT ./. 1 110591861 . G . . NT END=110592081;NT GT ./. 1 110592048 rs529172763 CT C 21 idl,rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=CT/0.5851,C/0.4149;NP=3;PC=0.102;Gene=STRIP1/NM_001270768.1/0;CC=c.1504-15delT;VC=Intron;Gene=STRIP1/NM_033088.3/1;CC=c.1789-15delT;VC=Intron;Gene=STRIP1/NR_073071.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:CT,T,I,C:51:31:5:13:37,1,4,9:1146,34,140,365:0.00,1.84,6.96,21.46:0.00,-0.12,2.57,13.44:0.00,1.96,4.39,8.02:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:60,60,60,60:18.9,42.0,66.5,46.8:0,1,1,3:0,0,0,0:105,44,36,68:33,105,115,79:37,0,20,21:-,NM_033088.3(STRIP1) c.1789-33delT:-,NOT_FOUND:-,NOT_FOUND 1 110592183 . G . . NT END=110592964;NT GT ./. 1 110593032 . G . . NT END=110593577;NT GT ./. 1 110593683 . G . . NT END=110594304;NT GT ./. 1 110594510 . G . . NT END=110596286;NT GT ./. 1 110596535 . G . . NT END=110603354;NT GT ./. 1 110603286 rs4520416 A G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.2788,AGGTGCTTCCTCCGTGGTGTCCAGGCAGG/0.7198;DB;DBA=NA;PAF=A/0.2788,G/0.001398;NP=183;PC=0.578;Gene=ALX3/NM_006492.2/1;CC=c.*69T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G,I:32:31:2:0:25,5,2:737,151,53:0.00,11.62,3.16:0.00,11.96,3.28:0.00,-0.33,-0.13:0.00,0.79,0.00:0.00,0.98,0.00:0.00,0.70,0.00:60,60,60:14.2,30.2,27.0:0,0,0:0,0,0:27,30,47:122,97,104:21,7,3:-,NM_006492.2(ALX3) c.*69T>C:-,NOT_FOUND:-,NOT_FOUND 1 110603664 . C . . NT END=110604056;NT GT ./. 1 110604186 . C . . NT END=110607208;NT GT ./. 1 110607526 . C . . NT END=110612957;NT GT ./. 1 110612925 rs2274568 G A 136 nt VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.3067,A/0.6933;Gene=ALX3/NM_006492.2/1;CC=c.277+33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:82:0:0:42,47:1427,1337:136.15,0.00:108.63,0.00:27.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,9.6:0,0:0,0:25,47:115,96:18,26:NM_006492.2(ALX3) c.277+33C>T,-:0.67,-:0.668119,- 1 110613235 . G . . NT END=110655156;NT GT ./. 1 110633521 rs61030133 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7819,TAC/.,TACACACACACACAC/0.2181;DB;DBA=NA;PAF=T/0.7819,TACACACACACACAC/0.2181;DB;DBA=NA;PAF=T/0.7019,C/0.2981;PC=0.005;Gene=LINC01397/NR_126382.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:141:16.01:9.89:6.12:1.00:1.00:1.00:70:41.8:0:0:54:76:22:chr1 g.110633520T>C (intergenic),chr1 g.110633520T>C (intergenic):0.32,0.32:NOT_FOUND,NOT_FOUND 1 110655682 . A . . NT END=110709551;NT GT ./. 1 110656011 rs12125479 G A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.898,A/0.102;Gene=UBL4B/NM_203412.1/1;CC=c.*330G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,G:5:0:0:0:3,2:74,52:7.36,0.00:0.00,0.00:7.36,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:117.0,12.0:0,0:0,0:105,78:46,72:41,26:NM_203412.1(UBL4B) c.*330G>A,-:0.12,-:NOT_FOUND,- 1 110709189 rs579966 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.001398,C/0.9986;NP=26;Gene=SLC6A17/NM_001010898.2/1;CC=c.-87-276T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:194:22.26:22.26:0.00:1.00:1.00:0.00:60:64.8:0:0:57:94:18:NM_001010898.2(SLC6A17) c.-87-276T>C,NM_001010898.2(SLC6A17) c.-87-276T>C:1,1:NOT_FOUND,NOT_FOUND 1 110709719 rs7527375 T C 262 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=T/0.607,C/0.393;Gene=SLC6A17/NM_001010898.2/1;CC=c.168T>C;ProtCh=p.D56=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:181:116:0:0:84,1,96:2760,10,3127:261.97,-0.19,0.00:137.12,-0.04,0.00:124.85,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:71.9,64.0,9.5:0,0,0:0,0,0:77,102,68:74,49,73:37,0,40:NM_001010898.2(SLC6A17) c.168T>C (p.(=)),-:0.37,-:0.521067,- 1 110709720 rs12737742 G A 261 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=180;DB;DBA=NA;PAF=G/0.7498,A/0.2502,C/.;Gene=SLC6A17/NM_001010898.2/1;CC=c.169G>A;ProtCh=p.A57T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:180:116:0:0:84,95,1:2751,3294,12:261.40,0.00,-0.15:143.54,0.00,-0.10:117.85,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:71.7,8.2,100.0:0,0,0:0,0,0:87,80,69:63,65,82:31,39,0:NM_001010898.2(SLC6A17) c.169G>A (p.Ala57Thr),-:0.23,-:0.331232,- 1 110709838 . G . . NT END=110714681;NT GT ./. 1 110714840 . G . . NT END=110716594;NT GT ./. 1 110716409 rs71096338 ATGAATGGAGCG A 43 nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=ATGAATGGAGCG/0.6927,A/0.3073;DB;DBA=NA;PAF=ATGAATGGAGCG/0.6927,A/0.3073;NP=968;PC=0.953;Gene=SLC6A17/NM_001010898.2/1;CC=c.445-171_445-161delATGGAGCGTGA;VC=Intron;DM=SLC6A17/SNF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATGAATGGAGCG,A:43:42:0:16:27,16:851,479:0.00,43.11:0.00,43.31:0.00,-0.20:0.00,1.00:0.00,1.00:0.00,0.58:60,60:4.4,25.5:0,0:0,0:54,49:97,102:43,31:-,NM_001010898.2(SLC6A17) c.445-185_445-175delTGAATGGAGCG:-,0.33:-,NOT_FOUND 1 110716511 rs12747833 C T 182 nt VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.7462,T/0.2538;Gene=SLC6A17/NM_001010898.2/1;CC=c.445-84C>T;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:130:116:0:0:72,58:2250,1928:0.00,181.64:0.00,130.87:0.00,50.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,39.5:0,0:0,0:47,41:102,104:21,25:-,NM_001010898.2(SLC6A17) c.445-84C>T:-,0.28:-,NOT_FOUND 1 110716722 . G . . NT END=110717400;NT GT ./. 1 110717583 . G . . NT END=110719250;NT GT ./. 1 110719089 rs589540 A G 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.03315,G/0.9669;Gene=SLC6A17/NM_001010898.2/1;CC=c.754-162A>G;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:294:34.61:34.61:0.00:1.00:1.00:0.00:60:63.7:0:0:58:93:29:NM_001010898.2(SLC6A17) c.754-162A>G,NM_001010898.2(SLC6A17) c.754-162A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 110719362 . G . . NT END=110734593;NT GT ./. 1 110734836 . G . . NT END=110735127;NT GT ./. 1 110735037 rs2603583 T G 114 nt VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.4653,G/0.5347;Gene=SLC6A17/NM_001010898.2/1;CC=c.1107-91T>G;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:74:44:0:0:37,37:1189,1053:114.30,0.00:58.96,0.00:55.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,11.8:0,0:0,0:58,91:93,54:38,41:NM_001010898.2(SLC6A17) c.1107-91T>G,-:0.55,-:NOT_FOUND,- 1 110735321 . G . . NT END=110737200;NT GT ./. 1 110737394 . G . . NT END=110738207;NT GT ./. 1 110738296 rs2784140 G A 163 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.7103,A/0.2897;Gene=SLC6A17/NM_001010898.2/1;CC=c.1581G>A;ProtCh=p.S527=;VC=Silent;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:132:80:0:0:54,3,75:1754,27,2232:163.13,-0.15,0.00:59.89,0.07,0.00:103.24,-0.22,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.4,21.0,10.5:0,0,0:0,0,0:85,87,79:65,63,67:23,42,38:NM_001010898.2(SLC6A17) c.1581G>A (p.(=)),-:0.32,-:0.3676,- 1 110738368 . G . . NT END=110740058;NT GT ./. 1 110739864 rs2761442 A G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.6867,G/0.3133;PC=0.213;Gene=SLC6A17/NM_001010898.2/1;CC=c.1653-195A>G;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:20:0:0:12,8:384,236:0.00,21.55:0.00,21.55:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.2,48.2:0,0:0,0:22,72:128,73:21,44:-,NM_001010898.2(SLC6A17) c.1653-195A>G:-,0.33:-,NOT_FOUND 1 110740222 . G . . NT END=110740697;NT GT ./. 1 110740273 rs2603581 G T 84 nt VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.6835,T/0.3165;PC=0.002;Gene=SLC6A17/NM_001010898.2/1;CC=c.1815+52G>T;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:69:23:0:0:1,38,30:10,1269,904:-0.10,0.00,84.38:0.08,0.00,15.10:-0.18,0.00,69.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:116.0,12.3,46.7:0,0,0:0,0,0:142,98,106:9,53,38:0,35,25:-,NM_001010898.2(SLC6A17) c.1815+52G>T:-,0.33:-,0.379196 1 110740406 rs2761443 C T 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6953,T/0.3047;Gene=SLC6A17/NM_001010898.2/1;CC=c.1815+185C>T;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:8:0:0:17,14:500,445:0.00,41.92:0.00,12.08:0.00,29.83:0.00,1.00:0.00,0.98:0.00,1.00:60,60:12.9,53.2:0,0:0,0:113,117:38,33:28,20:-,NM_001010898.2(SLC6A17) c.1815+185C>T:-,0.33:-,NOT_FOUND 1 110740472 rs2761444 A G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.6921,G/0.3079;Gene=SLC6A17/NM_001010898.2/1;CC=c.1816-226A>G;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:26:0:0:16,13:508,358:0.00,33.25:0.00,34.02:0.00,-0.77:0.00,1.00:0.00,1.00:0.00,0.85:60,60:19.6,39.5:0,0:0,0:42,49:108,102:29,30:-,NM_001010898.2(SLC6A17) c.1816-226A>G:-,0.33:-,NOT_FOUND 1 110740688 rs2761445 C T 335 nt VT=SNV;PN=C;NN=C;SST=Single;DP=208;DB;DBA=NA;PAF=C/0.6805,T/0.3195;Gene=SLC6A17/NM_001010898.2/1;CC=c.1816-10C>T;VC=Intron;DM=SLC6A17/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:208:161:0:0:102,106:3212,3466:0.00,334.53:0.00,211.34:0.00,123.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,40.3:0,0:0,0:70,65:78,83:34,26:-,NM_001010898.2(SLC6A17) c.1816-10C>T:-,0.34:-,0.398201 1 110741067 . C . . NT END=110754121;NT GT ./. 1 110741349 rs2603580 G T 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4575,T/0.5425;Gene=SLC6A17/NM_001010898.2/1;CC=c.*283G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:G,T:14:0:0:0:9,5:256,158:0.00,14.24:0.00,0.00:0.00,14.24:0.00,0.90:0.00,0.00:0.00,0.90:60,60:14.6,37.2:0,0:0,0:107,76:42,75:28,43:-,NM_001010898.2(SLC6A17) c.*283G>T:-,0.56:-,NOT_FOUND 1 110753808 rs11810910 G A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7057,A/0.2943;Gene=KCNC4/NM_001039574.2/0;CC=c.-314G>A;VC=5UTR;Gene=KCNC4/NM_004978.4/1;CC=c.-314G>A;VC=5UTR;Gene=KCNC4/NR_036437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:4:0:0:3,1:92,35:9.65,0.00:9.65,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:38.0,0.0:0,0:0,0:12,36:139,115:10,0:NM_004978.4(KCNC4) c.-314G>A,-:0.33,-:NOT_FOUND,- 1 110754800 . G . . NT END=110765585;NT GT ./. 1 110765535 rs611587 C G 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.010;Gene=KCNC4/NM_001039574.2/0;CC=c.679-51C>G;VC=Intron;Gene=KCNC4/NM_004978.4/1;CC=c.679-51C>G;VC=Intron;Gene=KCNC4/NR_036437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:34:33:0:0:19,15:623,443:0.00,41.25:0.00,36.88:0.00,4.37:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.3,38.2:0,0:0,0:65,45:86,106:31,38:-,NM_004978.4(KCNC4) c.679-51C>G:-,0.41:-,0.514457 1 110766523 . G . . NT END=110768596;NT GT ./. 1 110768801 . G . . NT END=110774842;NT GT ./. 1 110775595 . A . . NT END=110882027;NT GT ./. 1 110824177 rs71752517 A T,AAC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7077,C/0.2923;DB;DBA=NA;PAF=A/0.7931,AAC/0.2069,AACAC/.,AACACACAC/.;DB;DBA=NA;PAF=A/0.7931,AAC/0.2069,AACAC/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,T,AAC:4:3:2:0:1,1,2:34,34,66:0.00,3.15,6.65:0.00,3.21,3.33:0.00,-0.06,3.33:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.79:60,60,60:0.0,34.0,8.5:0,0,0:0,0,0:114,94,57:37,36,93:0,0,4:chr1 g.110824176A>T (intergenic),chr1 g.110824177_110824178insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 110878913 rs369045732 T TATGTC 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6567,TATGTC/0.3433;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=LOC440600/NR_036595.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TATGTC:4:2:4:0:4:123:14.21:3.88:10.33:1.00:1.00:1.00:60:18.8:0:0:72:78:15:NR_036595.1(LOC440600) n.175+2705_175+2706insGACAT,NR_036595.1(LOC440600) n.175+2705_175+2706insGACAT:0.36,0.36:NOT_FOUND,NOT_FOUND 1 110882444 rs814771 A G 560 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=A/0.1771,G/0.8229;PC=1.000;Gene=RBM15/NM_001201545.1/0;CC=c.417A>G;ProtCh=p.E139=;VC=Silent;Gene=RBM15/NM_022768.4/1;CC=c.417A>G;ProtCh=p.E139=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:150:91:0:0:150:4891:560.35:261.72:298.63:1.00:1.00:1.00:60:41.0:0:0:71:79:40:NM_022768.4(RBM15) c.=,NM_022768.4(RBM15) c.=:0.8,0.8:0.791817,0.791817 1 110884891 . G . . NT END=110888160;NT GT ./. 1 110888272 . G . . NT END=110888929;NT GT ./. 1 110888977 . T . . NT END=110906387;NT GT ./. 1 110906247 . C CAA 19 idl,rn VT=INS;SST=Single;DP=18;NP=9;PC=0.052;Gene=SLC16A4/NM_001201546.1/0;CC=c.*140_*141insTT;VC=3UTR;Gene=SLC16A4/NM_001201547.1/0;CC=c.*140_*141insTT;VC=3UTR;Gene=SLC16A4/NM_001201548.1/0;CC=c.*145_*146insTT;VC=3UTR;Gene=SLC16A4/NM_001201549.1/0;CC=c.*140_*141insTT;VC=3UTR;Gene=SLC16A4/NM_004696.2/1;CC=c.*140_*141insTT;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,CAA,D:12:18:11:2:5,6,1:161,361,62:0.00,18.82,2.50:0.00,18.82,2.50:0.00,0.00,0.00:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.00,0.00:60,60,60:34.2,49.3,30.0:0,5,1:0,0,0:92,43,80:47,108,70:4,18,10:-,NM_004696.2(SLC16A4) c.*122T[21]:-,NOT_FOUND:-,NOT_FOUND 1 110906536 . C . . NT END=110918079;NT GT ./. 1 110906780 rs6669004 G A 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2063,A/0.7937;Gene=SLC16A4/NM_001201546.1/0;CC=c.1193-265C>T;VC=Intron;Gene=SLC16A4/NM_001201547.1/0;CC=c.1151-265C>T;VC=Intron;Gene=SLC16A4/NM_001201548.1/0;CC=c.1007-245C>T;VC=Intron;Gene=SLC16A4/NM_001201549.1/0;CC=c.833-265C>T;VC=Intron;Gene=SLC16A4/NM_004696.2/1;CC=c.1337-265C>T;VC=Intron;DM=SLC16A4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:214:25.15:0.00:25.15:1.00:0.00:1.00:60:59.1:0:0:88:62:27:NM_004696.2(SLC16A4) c.1337-265C>T,NM_004696.2(SLC16A4) c.1337-265C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 110908768 rs71806665 TCTCA T 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=307;PC=0.002;Gene=SLC16A4/NM_001201546.1/0;CC=c.1193-2257_1193-2254delTGAG;VC=Intron;Gene=SLC16A4/NM_001201547.1/0;CC=c.1151-2257_1151-2254delTGAG;VC=Intron;Gene=SLC16A4/NM_001201548.1/0;CC=c.1007-2237_1007-2234delTGAG;VC=Intron;Gene=SLC16A4/NM_001201549.1/0;CC=c.833-2257_833-2254delTGAG;VC=Intron;Gene=SLC16A4/NM_004696.2/1;CC=c.1337-2257_1337-2254delTGAG;VC=Intron;DM=SLC16A4/MFS_1;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:TCTCA,T:5:4:0:3:2,3:69,100:0.00,9.97:0.00,4.88:0.00,5.08:0.00,0.78:0.00,0.97:0.00,0.97:60,70:107.0,9.0:0,0:0,0:100,91:47,59:18,26:-,NM_004696.2(SLC16A4) c.1337-2257_1337-2254delTGAG:-,0.34:-,NOT_FOUND 1 110918174 . C . . NT END=110919571;NT GT ./. 1 110919784 . C . . NT END=110921474;NT GT ./. 1 110919903 rs2279722 T C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6462,C/0.3538;Gene=SLC16A4/NM_001201546.1/0;CC=c.887-120A>G;VC=Intron;Gene=SLC16A4/NM_001201547.1/0;CC=c.845-120A>G;VC=Intron;Gene=SLC16A4/NM_001201548.1/0;CC=c.701-120A>G;VC=Intron;Gene=SLC16A4/NM_001201549.1/0;CC=c.527-120A>G;VC=Intron;Gene=SLC16A4/NM_004696.2/1;CC=c.1031-120A>G;VC=Intron;DM=SLC16A4/MFS_1;DM=SLC16A4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:13:0:0:0:13:294:35.10:0.00:35.10:1.00:0.00:1.00:60:36.6:0:0:83:68:18:NM_004696.2(SLC16A4) c.1031-120A>G,NM_004696.2(SLC16A4) c.1031-120A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 1 110921979 . C . . NT END=110923603;NT GT ./. 1 110923766 . C . . NT END=110924273;NT GT ./. 1 110924235 rs12120542 T C 69 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.9569,C/0.04313;PC=0.001;Gene=SLC16A4/NM_001201546.1/0;CC=c.221-470A>G;VC=Intron;Gene=SLC16A4/NM_001201547.1/0;CC=c.178+39A>G;VC=Intron;Gene=SLC16A4/NM_001201548.1/0;CC=c.35-470A>G;VC=Intron;Gene=SLC16A4/NM_001201549.1/0;CC=c.364+39A>G;VC=Intron;Gene=SLC16A4/NM_004696.2/1;CC=c.364+39A>G;VC=Intron;DM=SLC16A4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:41:0:0:25,26:728,860:69.32,0.00:48.74,0.00:20.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.4,4.8:0,0:0,0:40,60:106,88:34,26:NM_004696.2(SLC16A4) c.364+39A>G,-:0.06,-:0.086114,- 1 110924418 . C . . NT END=110925455;NT GT ./. 1 110925589 . C . . NT END=110931858;NT GT ./. 1 110931575 rs6658486 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6346,G/0.3654;PC=0.001;Gene=SLC16A4/NM_001201546.1/0;CC=c.87+284T>C;VC=Intron;Gene=SLC16A4/NM_001201547.1/0;CC=c.34+284T>C;VC=Intron;Gene=SLC16A4/NM_001201548.1/0;CC=c.34+284T>C;VC=Intron;Gene=SLC16A4/NM_001201549.1/0;CC=c.87+284T>C;VC=Intron;Gene=SLC16A4/NM_004696.2/1;CC=c.87+284T>C;VC=Intron;DM=SLC16A4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:121:14.01:14.01:0.00:1.00:1.00:0.00:60:30.2:0:0:41:108:26:NM_004696.2(SLC16A4) c.87+284T>C,NM_004696.2(SLC16A4) c.87+284T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 110931946 . G . . NT END=110944144;NT GT ./. 1 110944206 . C . . NT END=110946540;NT GT ./. 1 110946659 . C . . NT END=110948939;NT GT ./. 1 110949002 . C . . NT END=110950207;NT GT ./. 1 110950439 rs6674775 C T 557 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=158;DB;DBA=NA;PAF=C/0.6366,T/0.3634;Gene=LAMTOR5/NM_006402.2/1;CC=c.50G>A;ProtCh=p.S17N;VC=Missense;Gene=LAMTOR5-AS1/NR_102697.1/0;VC=NonCoding;DM=LAMTOR5/LAMTOR5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:158:87:0:0:158:4816:556.55:211.83:344.72:1.00:1.00:1.00:60:42.7:0:0:80:67:38:NM_006402.2(LAMTOR5) c.50G>A (p.Ser17Asn),NM_006402.2(LAMTOR5) c.50G>A (p.Ser17Asn):0.37,0.37:0.444333,0.444333 1 110950489 . G . . NT END=110993838;NT GT ./. 1 110993561 rs1573238 C G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.007987,G/0.992;NP=470 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:153:17.68:17.68:0.00:1.00:1.00:0.00:60:35.2:0:0:22:129:5:NM_032414.2(PROK1) c.-51-u227C>G,NM_032414.2(PROK1) c.-51-u227C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 110993911 . G . . NT END=110996582;NT GT ./. 1 110996709 . G . . NT END=110998853;NT GT ./. 1 110998974 . G . . NT END=111059873;NT GT ./. 1 111060669 rs1281175 T C 417 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=T/0.3758,C/0.6242;Gene=KCNA10/NM_005549.2/1;CC=c.741A>G;ProtCh=p.L247=;VC=Silent;DM=KCNA10/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:112:74:0:0:112:3639:417.13:218.25:198.88:1.00:1.00:1.00:60:45.4:0:0:75:66:30:NM_005549.2(KCNA10) c.741A>G (p.(=)),NM_005549.2(KCNA10) c.741A>G (p.(=)):0.67,0.67:0.671536,0.671536 1 111061062 rs1281174 T C 545 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=T/0.3758,C/0.6242;PC=0.095;Gene=KCNA10/NM_005549.2/1;CC=c.348A>G;ProtCh=p.E116=;VC=Silent;DM=KCNA10/BTB_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:145:93:0:0:1,144:12,4770:0.12,545.09:0.00,285.06:0.12,260.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.0,43.2:0,0:0,0:107,66:44,84:0,39:NM_005549.2(KCNA10) c.348A>G (p.(=)),NM_005549.2(KCNA10) c.348A>G (p.(=)):0.67,0.67:0.671152,0.671152 1 111061410 . T . . NT END=111136514;NT GT ./. 1 111061653 rs3768456 A G 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8409,G/0.1591;Gene=KCNA10/NM_005549.2/1;CC=c.-244T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:291:33.39:0.00:33.39:1.00:0.00:1.00:60:56.3:0:0:117:33:23:NM_005549.2(KCNA10) c.-244T>C,NM_005549.2(KCNA10) c.-244T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 1 111062340 rs375854990 A ATGTG 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=8;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,ATGTG:5:2:3:0:2,3:65,96:0.00,9.57:0.00,1.58:0.00,7.99:0.00,0.78:0.00,0.87:0.00,0.78:60,60:51.5,68.0:0,0:0,0:119,92:15,59:31,5:-,NM_005549.2(KCNA10) c.-388-u544_-388-u543insCACA:-,NOT_FOUND:-,NOT_FOUND 1 111062365 rs2262929 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4157,T/0.5843;NP=455;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:1:5:164:18.78:9.09:9.69:1.00:1.00:1.00:60:78.2:0:0:46:31:13:NM_005549.2(KCNA10) c.-388-u568G>A,NM_005549.2(KCNA10) c.-388-u568G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 111062373 rs56158670 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8712,T/0.1288;NP=64 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:3:0:0:6:197:22.56:7.60:14.96:1.00:1.00:1.00:60:70.2:0:0:77:36:36:NM_005549.2(KCNA10) c.-388-u576G>A,NM_005549.2(KCNA10) c.-388-u576G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 111135642 rs71580541 C CTGTG 9 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.9688,CGTGTGTGTG/0.003994,CTG/.,CTGGTGTGTGTG/0.02117,CTGTG/.,CTGTTGTGTGTGTG/0.00599;NP=2;NP=2;NP=4;NP=49;PC=0.121;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTGTG:3:3:5:0:3:138:8.54:2.44:6.10:0.78:0.94:0.97:60:24.7:2:0:75:53:9:chr1 g.111135642_111135643insTGTG (intergenic),chr1 g.111135642_111135643insTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 111136913 rs35865270 C CTA 20 PASS VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=3;NP=4;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-364_1036-363insTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,C,G,CTA:55:34:8:0:3,43,1,8:73,1370,13,254:4.04,0.00,-0.04,19.59:4.16,0.00,0.15,5.95:-0.13,0.00,-0.19,13.63:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:60,60,60,60:77.0,64.5,55.0,42.9:0,4,0,0:0,0,0,0:10,89,73,69:139,39,75,81:2,45,0,13:-,NM_001204269.1(KCNA2) c.1036-364_1036-363insTA:-,NOT_FOUND:-,NOT_FOUND 1 111136915 rs7544910 C A 53 idl VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6775,A/0.3225;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-365G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,I,D:50:32:1:3:19,28,1,2:582,884,16,101:53.44,0.00,0.27,4.46:22.06,0.00,0.41,1.18:31.38,0.00,-0.14,3.28:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:55.8,81.0,68.0,56.0:9,0,0,1:0,0,0,0:85,78,127,47:66,65,24,104:28,36,0,19:NM_001204269.1(KCNA2) c.1036-365G>T,-:0.2,-:NOT_FOUND,- 1 111136917 rs6704365 A C 64 idl VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.002;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-367T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:25:0:5:23,20:704,678:0.00,64.46:0.00,26.28:0.00,38.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:53.5,95.9:8,0:0,0:93,70:50,67:36,24:-,NM_001204269.1(KCNA2) c.1036-367T>G:-,0.15:-,NOT_FOUND 1 111136919 rs560311670 A C 67 idl VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.9786,C/0.02137;NP=19;PC=0.002;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-369T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:26:0:3:22,21:673,697:0.00,66.81:0.00,28.75:0.00,38.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.1,94.9:0,2:0,0:83,67:67,83:38,24:-,NM_001204269.1(KCNA2) c.1036-369T>G:-,NOT_FOUND:-,NOT_FOUND 1 111136930 . C CAT 8 rn VT=INS;SST=Single;DP=42;NP=1;PC=0.001;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-381_1036-380insAT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T,CAT:42:22:4:0:37,1,4:1067,31,115:0.00,1.57,7.74:0.00,-0.13,6.63:0.00,1.70,1.10:0.00,0.00,0.58:0.00,0.00,0.79:0.00,0.00,0.89:60,60,60:70.3,183.0,100.2:0,0,0:0,0,0:73,142,53:75,9,91:30,0,14:-,NM_001204269.1(KCNA2) c.1036-381_1036-380insAT:-,NOT_FOUND:-,NOT_FOUND 1 111136945 rs4839531 G A 76 idl VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.4295,A/0.5705;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-395C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:22:0:4:24,19:777,611:76.34,0.00:29.65,0.00:46.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:88.4,44.4:0,0:0,0:74,77:72,74:35,40:NM_001204269.1(KCNA2) c.1036-395C>T,-:0.54,-:NOT_FOUND,- 1 111137811 rs4839069 A G 181 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.6096,G/0.3904;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-1261T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:106:71:0:0:50,56:1531,1858:0.00,180.70:0.00,98.92:0.00,81.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,42.2:0,0:0,0:77,85:58,66:40,41:-,NM_001204269.1(KCNA2) c.1036-1261T>C:-,0.41:-,NOT_FOUND 1 111138933 . A . . NT END=111139324;NT GT ./. 1 111140160 rs12086457 A G 111 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.4333,G/0.5667;PC=0.002;Gene=KCNA2/NM_001204269.1/0;CC=c.1036-3610T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:51:0:0:45,35:1456,1180:0.00,110.86:0.00,66.34:0.00,44.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,43.6:0,0:0,0:87,61:62,87:33,36:-,NM_001204269.1(KCNA2) c.1036-3610T>C:-,0.55:-,NOT_FOUND 1 111140715 . t . . NT END=111140968;NT GT ./. 1 111141410 rs17026173 T C 116 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.6422,C/0.3578;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+3242A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:80:46:0:0:36,1,43:1225,12,1337:116.03,-0.04,0.00:58.57,0.08,0.00:57.46,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.7,75.0,7.2:0,0,0:0,0,0:82,133,84:69,16,67:32,0,34:NM_001204269.1(KCNA2) c.1035+3242A>G,-:0.36,-:NOT_FOUND,- 1 111141655 rs9783002 A T 114 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.4752,T/0.5248;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+2997T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:95:57:0:0:54,1,40:1802,15,1230:0.00,0.04,114.20:0.00,-0.11,59.84:0.00,0.15,54.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.1,107.0,65.4:0,0,0:0,0,0:70,19,79:74,132,71:41,0,35:-,NM_001204269.1(KCNA2) c.1035+2997T>A:-,0.49:-,NOT_FOUND 1 111141682 rs9782928 C T 122 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.4762,T/0.5238;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+2970G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:55:0:0:48,41:1611,1290:0.00,121.84:0.00,57.06:0.00,64.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,65.0:0,0:0,0:69,72:80,79:28,41:-,NM_001204269.1(KCNA2) c.1035+2970G>A:-,0.49:-,NOT_FOUND 1 111144007 rs12047887 G A 100 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.7841,A/0.2159;PC=0.493;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+645C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:45:0:0:34,34:1047,1086:100.44,0.00:50.01,0.00:50.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,4.5:0,0:0,0:74,72:66,73:35,39:NM_001204269.1(KCNA2) c.1035+645C>T,-:0.2,-:NOT_FOUND,- 1 111144399 . A AAT 22 rn VT=INS;SST=Single;DP=65;NP=48;PC=0.975;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+252_1035+253insAT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,AAT,D:65:38:10:1:54,10,1:1549,292,34:0.00,21.97,1.70:0.00,19.39,0.88:0.00,2.57,0.82:0.00,0.99,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:33.7,34.6,11.0:0,0,0:0,0,0:91,61,73:59,82,77:40,23,0:-,NM_001204269.1(KCNA2) c.1035+252_1035+253insAT:-,NOT_FOUND:-,NOT_FOUND 1 111144416 rs60493604 ATG A 12 rn VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=6;PC=0.043;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+234_1035+235delCA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:ATG,G,A:61:36:0:5:53,3,5:1621,97,167:0.00,6.05,11.69:0.00,1.63,0.47:0.00,4.43,11.22:0.00,0.00,0.69:0.00,0.00,0.87:0.00,0.00,0.92:60,60,60:42.0,46.7,13.8:0,0,0:0,0,0:73,125,61:72,26,90:35,8,10:-,NM_001204269.1(KCNA2) c.1035+234_1035+235delCA:-,NOT_FOUND:-,NOT_FOUND 1 111144418 rs11809324 G A 20 idl VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.043;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+234C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,G:55:34:0:5:9,46:260,1484:19.68,0.00:12.13,0.00:7.55,0.00:0.98,0.00:0.99,0.00:0.99,0.00:60,60:71.0,39.3:0,0:0,0:47,81:103,64:8,39:NM_001204269.1(KCNA2) c.1035+234C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 111144526 rs4839071 T G 270 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.001198,G/0.9988;NP=133;PC=1.000;Gene=KCNA2/NM_001204269.1/0;CC=c.1035+126A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:76:40:0:0:1,74,1:7,2374,11:0.05,270.38,0.00:0.06,119.25,0.00:-0.01,151.13,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:14.0,45.0,126.0:0,0,0:0,0,0:47,67,141:104,80,-6:0,31,0:NM_001204269.1(KCNA2) c.1035+126A>C,NM_001204269.1(KCNA2) c.1035+126A>C:1,1:NOT_FOUND,NOT_FOUND 1 111146220 rs78349687 C G 102 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.9659,G/0.03415,T/.;PC=0.948;Gene=KCNA2/NM_001204269.1/0;CC=c.894+291G>C;VC=Intron;Gene=KCNA2/NM_004974.3/1;CC=c.1185G>C;ProtCh=p.A395=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:101:71:0:0:1,65,35:12,2106,1130:-0.13,0.00,101.59:-0.16,0.00,54.46:0.03,0.00,47.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:96.0,7.7,42.1:0,0,0:0,0,0:34,85,60:117,63,88:0,28,41:-,NM_004974.3(KCNA2) c.1185G>C (p.(=)):-,0.02:-,0.04298 1 111147405 . A . . NT END=111215684;NT GT ./. 1 111217365 . G . . NT END=111217403;NT GT ./. 1 111217523 . C . . NT END=111434030;NT GT ./. 1 111222828 rs12732422 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=116;NP=32;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:4:3:0:0:1,3:34,105:0.00,10.95:0.00,3.25:0.00,7.70:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,106.3:1,2:0,0:15,89:136,33:0,1:-,NM_002232.3(KCNA3) c.-224-u5173G>C:-,NOT_FOUND:-,NOT_FOUND 1 111222830 rs60115041 C G,CTG 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5681,G/0.4319;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:22:G,CTG:4:3:1:0:3,1:105,28:11.56,2.68:3.85,2.68:7.70,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,60:106.3,0.0:0,0:0,0:91,17:31,134:1,0:NM_002232.3(KCNA3) c.-224-u5175G>C,NM_002232.3(KCNA3) c.-224-u5176_-224-u5175insCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 111222863 rs2821561 A G 9 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4245,G/0.5755 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:2:0:0:1,3:33,85:0.00,8.94:0.00,1.58:0.00,7.37:0.00,0.85:0.00,0.95:0.00,0.85:60,60:0.0,94.0:0,0:0,0:7,112:144,39:0,12:-,NM_002232.3(KCNA3) c.-224-u5208T>C:-,0.55:-,NOT_FOUND 1 111391381 rs6685507 A G 92 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.7738,G/0.2262;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:71:45:0:0:40,1,30:1268,11,988:0.00,-0.08,92.37:0.00,0.04,42.65:0.00,-0.12,49.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:10.7,171.0,43.5:0,0,0:0,0,0:89,97,69:61,50,81:30,0,43:-,chr1 g.111391380A>G (intergenic):-,0.23:-,NOT_FOUND 1 111391513 rs12750061 C T 60 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.7915,T/0.2085;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:52:28:0:0:1,30,1,20:14,939,9,654:0.12,0.00,-0.11,60.35:-0.10,0.00,0.03,18.52:0.23,0.00,-0.14,41.83:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:14.0,4.3,155.0,61.1:0,0,0,0:0,0,0,0:3,81,65,93:145,57,72,57:0,27,0,49:-,chr1 g.111391512C>T (intergenic):-,0.21:-,NOT_FOUND 1 111391579 rs12731526 A G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.7913,G/0.2087;PC=0.176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:17:0:0:25,13:838,413:0.00,36.90:0.00,11.94:0.00,24.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.7,58.1:0,0:0,0:69,56:70,94:28,28:-,chr1 g.111391578A>G (intergenic):-,0.21:-,NOT_FOUND 1 111394708 rs17637457 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7915,C/0.2085 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,G,T:6:5:0:0:3,1,2:98,12,67:9.73,0.76,0.00:8.19,-0.16,0.00:1.54,0.92,0.00:0.73,0.00,0.00:0.96,0.00,0.00:0.79,0.00,0.00:60,60,60:50.7,165.0,13.5:0,0,0:0,0,0:48,39,52:103,112,95:48,0,26:chr1 g.111394707T>C (intergenic),-:0.21,-:NOT_FOUND,- 1 111394739 rs397831348 G GCA 11 idl,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=147;PC=0.007;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G,GCA:7:9:7:0:1,2,4:27,46,211:2.09,0.00,10.76:2.13,0.00,7.54:-0.04,0.00,3.22:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.80:60,60,60:27.0,117.0,35.5:0,0,3:0,0,0:110,101,22:36,49,95:0,31,14:-,chr1 g.111394739_111394740insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 111394827 rs71580553 T TA 7 sb,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7915,TA/0.2085;DB;DBA=NA;PAF=T/0.7915,TA/0.2085;NP=3;PC=0.001;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:T,TA:8:5:3:0:5,3:135,77:0.00,6.82:0.00,-0.04:0.00,6.86:0.00,0.67:0.00,0.90:0.00,0.95:60,60:15.0,25.3:0,0:0,0:112,79:22,72:17,13:-,chr1 g.111394827_111394828insA (intergenic):-,0.21:-,NOT_FOUND 1 111394866 rs17688638 T C 10 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7915,C/0.2085 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:3:0:0:3,2:98,70:9.77,0.00:1.33,0.00:8.44,0.00:0.78,0.00:0.94,0.00:0.78,0.00:60,60:41.3,5.0:0,0:0,0:119,135:32,15:9,1:chr1 g.111394865T>C (intergenic),-:0.21,-:NOT_FOUND,- 1 111434094 . G . . NT END=111434966;NT GT ./. 1 111434351 rs2070747 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4411,A/0.5589;PC=0.006;Gene=CD53/NM_001040033.1/1;CC=c.63+258G>A;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.63+258G>A;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:201:22.96:0.00:22.96:1.00:0.00:1.00:60:33.5:0:0:72:78:20:NM_001040033.1(CD53) c.63+258G>A,NM_001040033.1(CD53) c.63+258G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 111434711 rs2070748 C T 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6214,T/0.3786;Gene=CD53/NM_001040033.1/1;CC=c.64-256C>T;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.64-256C>T;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:207:24.01:24.01:0.00:1.00:1.00:0.00:60:41.6:0:0:25:124:21:NM_001040033.1(CD53) c.64-256C>T,NM_001040033.1(CD53) c.64-256C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 111435156 . G . . NT END=111436948;NT GT ./. 1 111435335 rs3790722 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3369,T/0.6631;Gene=CD53/NM_001040033.1/1;CC=c.252+180C>T;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.252+180C>T;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:165:18.88:0.00:18.88:1.00:0.00:1.00:60:53.8:0:0:61:90:54:NM_001040033.1(CD53) c.252+180C>T,NM_001040033.1(CD53) c.252+180C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 111436857 rs1578956 T G 85 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4403,G/0.5597;Gene=CD53/NM_001040033.1/1;CC=c.253-92T>G;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.253-92T>G;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:23:0:0:25:736:85.50:70.74:14.76:1.00:1.00:1.00:60:61.8:0:0:41:110:19:NM_001040033.1(CD53) c.253-92T>G,NM_001040033.1(CD53) c.253-92T>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 111436858 rs1936943 C T 78 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4403,T/0.5597;Gene=CD53/NM_001040033.1/1;CC=c.253-91C>T;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.253-91C>T;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:21:0:0:23:671:77.99:64.55:13.44:1.00:1.00:1.00:60:64.7:0:0:42:109:19:NM_001040033.1(CD53) c.253-91C>T,NM_001040033.1(CD53) c.253-91C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 111437024 . G . . NT END=111437581;NT GT ./. 1 111437129 rs1343817 A C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.608,C/0.392;PC=0.001;Gene=CD53/NM_001040033.1/1;CC=c.327+106A>C;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.327+106A>C;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:244:27.74:0.00:27.74:1.00:0.00:1.00:60:34.9:0:0:118:33:17:NM_001040033.1(CD53) c.327+106A>C,NM_001040033.1(CD53) c.327+106A>C:0.43,0.43:NOT_FOUND,NOT_FOUND 1 111437176 rs76751155 G GA 12 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4401,GA/0.5599;DB;DBA=NA;PAF=G/0.4401,GA/0.5599;DB;DBA=NA;PAF=NA;NP=1511;PC=0.015;Gene=CD53/NM_001040033.1/1;CC=c.327+157dupA;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.327+157dupA;VC=Intron;DM=CD53/Tetraspannin;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,GA:5:0:4:0:1,4:31,111:0.00,11.91:0.00,0.00:0.00,11.91:0.00,0.96:0.00,0.00:0.00,0.96:60,70:35.0,58.8:0,0:0,0:148,70:3,74:0,23:-,NM_001040033.1(CD53) c.327+153_327+154insA:-,0.59:-,NOT_FOUND 1 111437421 rs2070749 C A 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3299,A/0.6701;Gene=CD53/NM_001040033.1/1;CC=c.328-161C>A;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.328-161C>A;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:0:14:446:51.24:51.24:0.00:1.00:1.00:0.00:60:37.0:0:0:35:115:20:NM_001040033.1(CD53) c.328-161C>A,NM_001040033.1(CD53) c.328-161C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 111437678 . G . . NT END=111439274;NT GT ./. 1 111439356 . G . . NT END=111440430;NT GT ./. 1 111439527 rs2070750 A G 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4315,G/0.5685;Gene=CD53/NM_001040033.1/1;CC=c.504+172A>G;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.504+172A>G;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:197:23.02:0.00:23.02:1.00:0.00:1.00:60:63.4:0:0:69:82:31:NM_001040033.1(CD53) c.504+172A>G,NM_001040033.1(CD53) c.504+172A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 111440515 . G . . NT END=111441745;NT GT ./. 1 111441485 rs11102175 A G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3277,G/0.6723;Gene=CD53/NM_001040033.1/1;CC=c.589-261A>G;VC=Intron;Gene=CD53/NM_000560.3/0;CC=c.589-261A>G;VC=Intron;DM=CD53/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:142:16.54:16.54:0.00:1.00:1.00:0.00:60:37.8:0:0:48:102:32:NM_001040033.1(CD53) c.589-261A>G,NM_001040033.1(CD53) c.589-261A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 111441818 . T . . NT END=111490580;NT GT ./. 1 111441829 rs1803259 C T 145 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.4433,A/.,G/.,T/0.5567;Gene=CD53/NM_001040033.1/1;CC=c.*12C>T;VC=3UTR;Gene=CD53/NM_000560.3/0;CC=c.*12C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:16:0:0:39:1265:145.07:38.91:106.16:1.00:1.00:1.00:60:34.2:0:0:97:52:36:NM_001040033.1(CD53) c.*12C>T,NM_001040033.1(CD53) c.*12C>T:0.59,0.59:0.636399,0.636399 1 111491022 . C . . NT END=111492472;NT GT ./. 1 111492746 . C . . NT END=111493909;NT GT ./. 1 111492807 rs2232044 G A 53 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.7855,A/0.2145;PC=0.001;Gene=LRIF1/NM_001006945.1/0;CC=c.-12-62C>T;VC=Intron;Gene=LRIF1/NM_018372.3/1;CC=c.1597-62C>T;VC=Intron;DM=LRIF1/LRIF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:13:0:0:18,16:545,518:52.86,0.00:15.07,0.00:37.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.2,6.8:0,0:0,0:121,111:27,38:13,19:NM_018372.3(LRIF1) c.1597-62C>T,-:0.26,-:NOT_FOUND,- 1 111495438 . C . . NT END=111506242;NT GT ./. 1 111506311 . T . . NT END=111660781;NT GT ./. 1 111660890 . C . . NT END=111661426;NT GT ./. 1 111661413 rs325916 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5236,C/0.4764;Gene=DRAM2/NM_178454.4/1;CC=c.693+14A>G;VC=Intron;DM=DRAM2/Frag1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:16:0:0:8,10:278,335:26.25,0.00:18.26,0.00:7.99,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:52.8,0.0:0,0:0,0:58,31:91,107:20,21:NM_178454.4(DRAM2) c.693+14A>G,-:0.43,-:0.45293,- 1 111661520 . C . . NT END=111662498;NT GT ./. 1 111661528 rs325917 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6715,C/0.3285;Gene=DRAM2/NM_178454.4/1;CC=c.601-9A>G;VC=Intron;DM=DRAM2/Frag1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:13:0:0:12,10:368,313:35.94,0.00:17.98,0.00:17.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,3.2:0,0:0,0:99,112:41,39:25,22:NM_178454.4(DRAM2) c.601-9A>G,-:0.28,-:0.242578,- 1 111662582 . C . . NT END=111663137;NT GT ./. 1 111662723 rs325918 G A 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6843,A/0.3157;Gene=DRAM2/NM_178454.4/1;CC=c.518-142C>T;VC=Intron;DM=DRAM2/Frag1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:A,G:12:0:0:0:6,6:199,167:19.17,0.00:0.00,0.00:19.17,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:38.8,24.0:0,0:0,0:102,70:49,80:17,23:NM_178454.4(DRAM2) c.518-142C>T,-:0.27,-:NOT_FOUND,- 1 111662952 rs325919 C T 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6711,T/0.3289;PC=0.009;Gene=DRAM2/NM_178454.4/1;CC=c.517+186G>A;VC=Intron;DM=DRAM2/Frag1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,T:10:10:0:0:5,5:170,109:0.00,10.18:0.00,10.18:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:19.8,77.2:0,0:0,0:83,39:67,111:28,13:-,NM_178454.4(DRAM2) c.517+186G>A:-,0.28:-,NOT_FOUND 1 111663316 . C . . NT END=111667363;NT GT ./. 1 111663488 rs325920 T C 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6715,C/0.3285;Gene=DRAM2/NM_178454.4/1;CC=c.340-173A>G;VC=Intron;DM=DRAM2/Frag1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:14:0:0:0:6,8:186,237:17.30,0.00:0.00,0.00:17.30,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:45.2,6.5:0,0:0,0:116,108:35,42:15,27:NM_178454.4(DRAM2) c.340-173A>G,-:0.28,-:NOT_FOUND,- 1 111667158 rs7514887 T C 9 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7887,C/0.2113;Gene=DRAM2/NM_178454.4/1;CC=c.339+206A>G;VC=Intron;DM=DRAM2/Frag1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:8:8:0:0:3,5:100,164:9.13,0.00:9.23,0.00:-0.10,0.00:0.67,0.00:0.67,0.00:0.58,0.00:60,60:36.7,0.0:0,0:0,0:1,33:150,118:0,29:NM_178454.4(DRAM2) c.339+206A>G,-:0.17,-:NOT_FOUND,- 1 111667504 . C . . NT END=111668848;NT GT ./. 1 111667639 rs146295738 GA G 19 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=GA/0.7907,G/0.2093;NP=78;Gene=DRAM2/NM_178454.4/1;CC=c.200-137delT;VC=Intron;DM=DRAM2/Frag1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,GA,I,G:13:0:1:6:2,4,1,6:28,134,33,196:1.87,0.00,2.53,19.37:0.00,0.00,0.00,0.00:1.87,0.00,2.53,19.37:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.97:60,60,60,60:118.0,2.8,23.0,14.2:0,0,0,0:0,0,0,0:92,141,114,111:39,9,37,40:3,5,0,10:-,NM_178454.4(DRAM2) c.200-137delT:-,NOT_FOUND:-,NOT_FOUND 1 111668917 . C . . NT END=111674045;NT GT ./. 1 111674177 . T . . NT END=111690336;NT GT ./. 1 111690677 . T . . NT END=111702001;NT GT ./. 1 111702151 . T . . NT END=111703776;NT GT ./. 1 111702304 rs78051509 ATTATTGGTAGTG A 11 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=ATTATTGGTAGTG/0.9946,A/0.005391;DB;DBA=NA;PAF=ATTATTGGTAGTG/0.9946,A/0.005391;NP=5;PC=0.001;Gene=CEPT1/NM_001007794.1/0;CC=c.487+159_487+170delTTGGTAGTGTTA;VC=Intron;Gene=CEPT1/NM_006090.3/1;CC=c.487+159_487+170delTTGGTAGTGTTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:ATTATTGGTAGTG,A:12:0:0:4:8,4:266,124:0.00,10.99:0.00,0.00:0.00,10.99:0.00,0.80:0.00,0.00:0.00,0.80:60,60:3.0,6.0:1,0:0,0:110,90:40,61:26,12:-,NM_001007794.1(CEPT1) c.487+156_487+167delTTATTGGTAGTG:-,NOT_FOUND:-,NOT_FOUND 1 111703920 . T . . NT END=111709727;NT GT ./. 1 111710514 rs11339361 CT C 34 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=CT/0.7432,C/0.2568;NP=60;PC=0.005;Gene=CEPT1/NM_001007794.1/0;CC=c.629+6610delT;VC=Intron;Gene=CEPT1/NM_006090.3/1;CC=c.629+6610delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:34:19:2:14:20,2,12:603,61,425:0.00,4.06,33.69:0.00,-0.19,14.58:0.00,4.24,19.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:15.4,6.0,38.6:0,0,2:0,0,0:127,101,85:15,49,54:16,24,22:-,NM_001007794.1(CEPT1) c.629+6597delT:-,NOT_FOUND:-,NOT_FOUND 1 111710540 . a . . NT END=111717500;NT GT ./. 1 111710586 rs325887 G C 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2772,C/0.7228;Gene=CEPT1/NM_001007794.1/0;CC=c.629+6668G>C;VC=Intron;Gene=CEPT1/NM_006090.3/1;CC=c.629+6668G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,G:13:2:0:0:10,3:313,104:32.99,0.00:3.56,0.00:29.42,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:57.6,0.0:0,0:0,0:89,98:61,53:30,12:NM_001007794.1(CEPT1) c.629+6668G>C,-:0.68,-:NOT_FOUND,- 1 111710668 rs325888 T A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.356,A/0.644;Gene=CEPT1/NM_001007794.1/0;CC=c.629+6750T>A;VC=Intron;Gene=CEPT1/NM_006090.3/1;CC=c.629+6750T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,T:8:0:0:0:6,2:193,68:20.21,0.00:0.00,0.00:20.21,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:59.2,6.5:0,0:0,0:112,21:38,129:29,1:NM_001007794.1(CEPT1) c.629+6750T>A,-:0.68,-:NOT_FOUND,- 1 111717586 . G . . NT END=111724808;NT GT ./. 1 111724941 . G . . NT END=111725420;NT GT ./. 1 111725580 . G . . NT END=111726083;NT GT ./. 1 111726026 rs2243393 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5118,A/0.4882;Gene=CEPT1/NM_001007794.1/0;CC=c.1006-58G>A;VC=Intron;Gene=CEPT1/NM_006090.3/1;CC=c.1006-58G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:20:0:0:11,11:337,363:32.26,0.00:26.27,0.00:6.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,3.3:0,0:0,0:34,37:112,88:34,34:NM_001007794.1(CEPT1) c.1006-58G>A,-:0.44,-:NOT_FOUND,- 1 111726210 . G . . NT END=111726812;NT GT ./. 1 111726213 rs694180 A G 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.245,G/0.755;PC=1.000;Gene=CEPT1/NM_001007794.1/0;CC=c.1131+4A>G;VC=Intron;Gene=CEPT1/NM_006090.3/1;CC=c.1131+4A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:24:0:0:20,19:676,605:0.00,57.82:0.00,16.10:0.00,41.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,44.7:0,0:0,0:94,88:56,59:25,22:-,NM_001007794.1(CEPT1) c.1131+4A>G:-,0.72:-,0.710057 1 111726288 rs2275122 T G 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8171,G/0.1829;Gene=CEPT1/NM_001007794.1/0;CC=c.1131+79T>G;VC=Intron;Gene=CEPT1/NM_006090.3/1;CC=c.1131+79T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:24:4:0:0:12,12:363,395:34.78,0.00:2.64,0.00:32.14,0.00:1.00,0.00:0.51,0.00:1.00,0.00:60,60:56.1,6.0:0,0:0,0:132,75:18,74:12,55:NM_001007794.1(CEPT1) c.1131+79T>G,-:0.15,-:NOT_FOUND,- 1 111726933 . T . . NT END=111730226;NT GT ./. 1 111730304 . C . . NT END=111730752;NT GT ./. 1 111730993 . C . . NT END=111731323;NT GT ./. 1 111731409 . C . . NT END=111731833;NT GT ./. 1 111731876 . C . . NT END=111734761;NT GT ./. 1 111734940 . C . . NT END=111737199;NT GT ./. 1 111737183 rs660173 C T 111 nt VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.232,T/0.768;Gene=DENND2D/NM_024901.4/0;CC=c.794+17G>A;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.785+17G>A;VC=Intron;DM=DENND2D/DENN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:55:0:0:36,36:1210,1156:0.00,111.07:0.00,63.10:0.00,47.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,38.6:0,1:0,0:69,60:69,89:38,33:-,NM_024901.3(DENND2D) c.794+17G>A:-,0.72:-,0.724127 1 111737349 . C . . NT END=111738537;NT GT ./. 1 111738679 . C . . NT END=111739797;NT GT ./. 1 111739771 rs3833538 G GCAGGACAAA 41 sb,nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.3998,GAAGGACAAA/.,GCAGGACAAA/0.6002,GCGGGACAAA/.,GTAGGACAAA/.;NP=4;PC=0.007;Gene=DENND2D/NM_024901.4/0;CC=c.504+26_504+27insTTTGTCCTG;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.495+26_495+27insTTTGTCCTG;VC=Intron;DM=DENND2D/DENN;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCAGGACAAA:49:44:15:0:34,15:1070,469:0.00,40.96:0.00,39.76:0.00,1.20:0.00,1.00:0.00,1.00:0.00,0.99:60,60:9.2,6.9:0,0:0,0:44,37:103,114:27,17:-,NM_024901.3(DENND2D) c.504+26_504+27insTTTGTCCTG:-,NOT_FOUND:-,0.476053 1 111740099 rs5777042 TG T 247 PASS VT=DEL;SST=Single;DP=164;DB;DBA=NA;PAF=TG/0.85,T/0.15;NP=11;Gene=DENND2D/NM_024901.4/0;CC=c.427-225delC;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.418-225delC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TG,T:164:106:0:81:1,82,81:20,2697,2577:0.23,0.00,247.30:0.36,0.00,139.21:-0.13,0.00,108.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:56.0,9.1,4.6:0,0,0:0,0,0:39,97,82:112,44,68:0,33,38:-,NM_024901.3(DENND2D) c.427-225delC:-,0.1:-,NOT_FOUND 1 111740345 rs599134 C G 252 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=206;DB;DBA=NA;PAF=NA;Gene=DENND2D/NM_024901.4/0;CC=c.426+197G>C;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.417+197G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:206:154:0:0:120,85,1:3824,2720,29:0.00,252.27,0.85:0.00,148.85,0.96:0.00,103.42,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.9,38.3,29.0:0,0,0:0,0,0:76,65,1:69,79,149:40,33,0:-,NM_024901.3(DENND2D) c.426+197G>C:-,0.68:-,NOT_FOUND 1 111740612 . C . . NT END=111741251;NT GT ./. 1 111741188 rs41312686 C T 61 nt VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.9451,T/0.05491;Gene=DENND2D/NM_024901.4/0;CC=c.356+64G>A;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.347+64G>A;VC=Intron;DM=DENND2D/uDENN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:42:0:0:23,20:721,644:0.00,61.03:0.00,59.56:0.00,1.46:0.00,1.00:0.00,1.00:0.00,0.86:60,60:3.0,48.3:0,0:0,0:53,52:98,98:36,24:-,NM_024901.3(DENND2D) c.356+64G>A:-,0.06:-,NOT_FOUND 1 111741365 . C . . NT END=111742244;NT GT ./. 1 111742421 . C . . NT END=111743014;NT GT ./. 1 111742714 rs638825 A C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1016,C/0.8984;Gene=DENND2D/NM_024901.4/0;CC=c.68-294T>G;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.59-294T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,C:12:6:0:0:8,4:258,115:0.00,10.09:0.00,2.42:0.00,7.67:0.00,0.80:0.00,0.89:0.00,0.89:60,60:11.0,37.5:0,0:0,0:38,118:112,32:34,20:-,NM_024901.3(DENND2D) c.68-294T>G:-,0.9:-,NOT_FOUND 1 111742761 rs639210 T C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.08466,C/0.9153;Gene=DENND2D/NM_024901.4/0;CC=c.67+254A>G;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.59-341A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:13:11:0:0:5,8:169,256:15.52,0.00:15.95,0.00:-0.42,0.00:0.91,0.00:0.99,0.00:0.68,0.00:60,60:66.2,11.0:0,0:0,0:40,74:108,75:16,25:NM_024901.3(DENND2D) c.67+254A>G,-:0.91,-:NOT_FOUND,- 1 111742838 rs639306 G C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.08846,C/0.9115;Gene=DENND2D/NM_024901.4/0;CC=c.67+177C>G;VC=Intron;Gene=DENND2D/NM_001271833.1/1;CC=c.59-418C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:25:0:0:13,12:418,374:40.46,0.00:40.46,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.1,12.9:0,0:0,0:38,29:111,120:25,14:NM_024901.3(DENND2D) c.67+177C>G,-:0.91,-:NOT_FOUND,- 1 111743326 . G . . NT END=111746917;NT GT ./. 1 111746976 . G . . NT END=111770351;NT GT ./. 1 111770392 . G . . NT END=111772332;NT GT ./. 1 111770423 rs755467 T G 195 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.3091,G/0.6909;Gene=CHI3L2/NM_001025197.1/0;CC=c.40+32T>G;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.40+32T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G:50:29:0:0:50:1711:194.94:74.76:120.18:1.00:1.00:1.00:60:42.9:0:0:96:49:18:NM_004000.2(CHI3L2) c.40+32T>G,NM_004000.2(CHI3L2) c.40+32T>G:0.68,0.68:0.696602,0.696602 1 111772259 rs6537684 A C,G 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=5;NP=8;PC=0.236 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:189:C,G:17:17:0:0:6,11:195,319:19.65,35.05:19.65,35.05:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,59:67.0,105.6:0,0:0,0:84,81:65,69:5,26:NM_004000.2(CHI3L2) c.41-215A>C,NM_004000.2(CHI3L2) c.41-215A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 111772261 rs6537685 A G 65 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6695,G/0.3305;NP=15;PC=0.226;Gene=CHI3L2/NM_001025197.1/0;CC=c.41-1103A>G;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.41-213A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:18:0:0:18:565:65.08:65.08:0.00:1.00:1.00:0.00:59:92.2:0:0:84:66:22:NM_004000.2(CHI3L2) c.41-213A>G,NM_004000.2(CHI3L2) c.41-213A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 111772282 rs7546290 C A 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=1;NP=6;PC=0.066;Gene=CHI3L2/NM_001025197.1/0;CC=c.41-1082C>A;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.41-192C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:27:0:0:16,11:524,372:52.11,0.00:52.11,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:108.6,70.5:0,0:0,0:49,99:94,46:42,49:NM_004000.2(CHI3L2) c.41-192C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 111772303 rs61237890 C CAAAA 12 idl,rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;PC=0.065;Gene=CHI3L2/NM_001025197.1/0;CC=c.41-1037_41-1036insAAAA;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.41-147_41-146insAAAA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,CAAAA:15:28:18:0:10,5:341,519:0.00,12.49:0.00,12.49:0.00,0.00:0.00,0.81:0.00,0.81:0.00,0.00:40,60:81.2,327.0:0,13:0,0:128,32:21,111:6,11:-,NM_004000.2(CHI3L2) c.41-171_41-170insAAAA:-,NOT_FOUND:-,NOT_FOUND 1 111772328 rs371879454 G A 9 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=41;PC=0.033;Gene=CHI3L2/NM_001025197.1/0;CC=c.41-1036G>A;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.41-146G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:49:30:0:0:7,42:146,1259:9.31,0.00:10.76,0.00:-1.44,0.00:0.92,0.00:0.97,0.00:0.93,0.00:60,70:119.1,10.1:0,0:0,0:58,17:87,128:25,14:NM_004000.2(CHI3L2) c.41-146G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 111772504 . G . . NT END=111773363;NT GT ./. 1 111773307 rs75230690 T C 72 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9343,C/0.06569;PC=0.587;Gene=CHI3L2/NM_001025197.1/0;CC=c.41-57T>C;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.71-57T>C;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.-167-57T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:33:0:0:23,12:708,385:71.91,0.00:65.25,0.00:6.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,3.9:0,0:0,0:70,46:81,104:26,32:NM_004000.2(CHI3L2) c.71-57T>C,-:0.05,-:NOT_FOUND,- 1 111773566 . G . . NT END=111773859;NT GT ./. 1 111773568 rs2255089 G C 109 nt VT=SNV;PN=T;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.595,C/0.405;PC=0.002;Gene=CHI3L2/NM_001025197.1/0;CC=c.242+3G>C;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.272+3G>C;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.35+3G>C;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:17:0:0:33,24:1102,821:109.07,0.00:20.31,0.00:88.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,7.7:0,0:0,0:90,128:60,21:27,11:NM_004000.2(CHI3L2) c.272+3G>C,-:0.42,-:0.386975,- 1 111773830 rs2147789 A T 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.5887,C/.,T/0.4113;PC=0.017;Gene=CHI3L2/NM_001025197.1/0;CC=c.243-30A>T;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.273-30A>T;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.36-30A>T;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:25:24:0:0:14,11:468,336:0.00,31.38:0.00,27.11:0.00,4.27:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.5,31.5:0,0:0,0:72,92:71,58:32,29:-,NM_004000.2(CHI3L2) c.273-30A>T:-,0.42:-,0.39205 1 111773917 . G . . NT END=111777528;NT GT ./. 1 111777680 . G . . NT END=111778260;NT GT ./. 1 111778187 rs2251715 A G 57 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.6585,G/0.3415;PC=0.001;Gene=CHI3L2/NM_001025197.1/0;CC=c.451-74A>G;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.481-74A>G;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.244-74A>G;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:31:0:0:17,19:558,587:0.00,56.93:0.00,44.56:0.00,12.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.2,76.3:0,0:0,0:44,45:106,106:27,28:-,NM_004000.2(CHI3L2) c.481-74A>G:-,0.37:-,NOT_FOUND 1 111778241 rs2764544 C T 178 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.03874,T/0.9613;PC=0.001;Gene=CHI3L2/NM_001025197.1/0;CC=c.451-20C>T;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.481-20C>T;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.244-20C>T;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:T:48:39:0:0:48:1553:178.11:112.50:65.61:1.00:1.00:1.00:60:61.8:0:0:48:94:34:NM_004000.2(CHI3L2) c.481-20C>T,NM_004000.2(CHI3L2) c.481-20C>T:0.96,0.96:0.96071,0.96071 1 111778325 rs11556868 C T 125 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.9273,T/0.07268;PC=0.999;Gene=CHI3L2/NM_001025197.1/0;CC=c.515C>T;ProtCh=p.A172V;VC=Missense;Gene=CHI3L2/NM_004000.2/1;CC=c.545C>T;ProtCh=p.A182V;VC=Missense;Gene=CHI3L2/NM_001025199.1/0;CC=c.308C>T;ProtCh=p.A103V;VC=Missense;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:58:0:0:40,40:1308,1305:0.00,125.47:0.00,71.13:0.00,54.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,47.4:0,0:0,0:61,70:84,76:29,22:-,NM_004000.2(CHI3L2) c.545C>T (p.Ala182Val):-,0.06:-,0.097801 1 111778386 . G . . NT END=111778645;NT GT ./. 1 111778776 . G . . NT END=111781371;NT GT ./. 1 111778824 rs2251608 T C 240 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.353,C/0.647,G/.;Gene=CHI3L2/NM_001025197.1/0;CC=c.705+49T>C;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.735+49T>C;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.498+49T>C;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:37:0:0:71:2066:240.22:73.20:167.02:1.00:1.00:1.00:60:36.5:0:0:110:40:21:NM_004000.2(CHI3L2) c.735+49T>C,NM_004000.2(CHI3L2) c.735+49T>C:0.65,0.65:0.649431,0.649431 1 111781555 . G . . NT END=111783948;NT GT ./. 1 111783982 rs13721 C A 76 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.031;Gene=CHI3L2/NM_001025197.1/0;CC=c.922C>A;ProtCh=p.R308=;VC=Silent;Gene=CHI3L2/NM_004000.2/1;CC=c.952C>A;ProtCh=p.R318=;VC=Silent;Gene=CHI3L2/NM_001025199.1/0;CC=c.715C>A;ProtCh=p.R239=;VC=Silent;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:48:42:0:0:24,23,1:783,778,11:75.57,0.00,0.02:45.62,0.00,-0.01:29.95,0.00,0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.7,34.5,47.0:0,0,0:0,0,0:69,64,104:80,76,47:32,23,0:NM_004000.2(CHI3L2) c.952C>A (p.(=)),-:0.24,-:0.232969,- 1 111783996 rs2494007 A G 184 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.000599,A/0.9994;NP=3467;PC=1.000;Gene=CHI3L2/NM_001025197.1/0;CC=c.936A>G;ProtCh=p.Q312=;VC=Silent;Gene=CHI3L2/NM_004000.2/1;CC=c.966A>G;ProtCh=p.Q322=;VC=Silent;Gene=CHI3L2/NM_001025199.1/0;CC=c.729A>G;ProtCh=p.Q243=;VC=Silent;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:G:46:39:0:0:46:1618:183.74:105.84:77.90:1.00:1.00:1.00:60:55.1:0:0:77:72:28:NM_004000.2(CHI3L2) c.=,NM_004000.2(CHI3L2) c.=:1,1:0.999385,0.999385 1 111784066 . G . . NT END=111784848;NT GT ./. 1 111784138 rs942694 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8095,C/0.1905;Gene=CHI3L2/NM_001025197.1/0;CC=c.1005+73T>C;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.1035+73T>C;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.798+73T>C;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,T:15:0:0:0:6,9:182,283:16.68,0.00:0.00,0.00:16.68,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:118.3,43.7:0,0:0,0:70,106:80,45:50,21:NM_004000.2(CHI3L2) c.1035+73T>C,-:0.21,-:NOT_FOUND,- 1 111784148 rs2764551 T G 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=3278;Gene=CHI3L2/NM_001025197.1/0;CC=c.1005+83T>G;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.1035+83T>G;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.798+83T>G;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:0:0:0:16:532:60.81:0.00:60.81:1.00:0.00:1.00:60:75.2:0:0:112:38:25:NM_004000.2(CHI3L2) c.1035+83T>G,NM_004000.2(CHI3L2) c.1035+83T>G:1,1:NOT_FOUND,NOT_FOUND 1 111784158 rs942693 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8095,C/0.1905;Gene=CHI3L2/NM_001025197.1/0;CC=c.1005+93T>C;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.1035+93T>C;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.798+93T>C;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:C,T:15:0:0:0:6,9:176,280:16.08,0.00:0.00,0.00:16.08,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:124.8,43.7:0,0:0,0:43,126:107,25:16,21:NM_004000.2(CHI3L2) c.1035+93T>C,-:0.21,-:NOT_FOUND,- 1 111784227 rs2182114 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8095,T/0.1905;Gene=CHI3L2/NM_001025197.1/0;CC=c.1005+162C>T;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.1035+162C>T;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.798+162C>T;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,T:8:0:0:0:3,5:107,165:0.00,16.59:0.00,0.00:0.00,16.59:0.00,0.97:0.00,0.00:0.00,0.97:60,60:23.3,115.0:0,0:0,0:90,106:58,45:31,7:-,NM_004000.2(CHI3L2) c.1035+162C>T:-,0.21:-,NOT_FOUND 1 111784816 rs11102221 G A 58 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.7204,A/0.2796;PC=0.003;Gene=CHI3L2/NM_001025197.1/0;CC=c.1006-33G>A;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.1036-33G>A;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.799-33G>A;VC=Intron;DM=CHI3L2/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:47:0:0:19,32:634,983:57.86,0.00:52.58,0.00:5.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.9,5.1:0,0:0,0:54,53:97,83:26,30:NM_004000.2(CHI3L2) c.1036-33G>A,-:0.25,-:0.291096,- 1 111784987 . A . . NT END=111853089;NT GT ./. 1 111785246 rs5777051 C CAT 8 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8097,CAT/0.1903;DB;DBA=NA;PAF=C/0.8097,CAT/0.1903;NP=62;Gene=CHI3L2/NM_001025197.1/0;CC=c.*2+265_*2+266dupAT;VC=Intron;Gene=CHI3L2/NM_004000.2/1;CC=c.*2+265_*2+266dupAT;VC=Intron;Gene=CHI3L2/NM_001025199.1/0;CC=c.*2+265_*2+266dupAT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,CAT:4:0:3:0:1,3:31,77:0.00,8.14:0.00,0.00:0.00,8.14:0.00,0.85:0.00,0.00:0.00,0.85:60,60:13.0,26.0:0,0:0,0:146,63:3,87:0,4:-,NM_004000.2(CHI3L2) c.*2+258_*2+259insAT:-,0.21:-,NOT_FOUND 1 111825261 rs4418594 G A 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.5823,A/0.4177;PC=0.436;Gene=CHIAP2/NR_003928.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:43:0:0:23,34:734,1073:67.70,0.00:43.61,0.00:24.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,5.7:0,0:0,0:87,50:64,100:44,27:NR_003928.1(CHIAP2) n.1024G>A,-:0.42,-:NOT_FOUND,- 1 111825435 rs4272622 T C 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.7823,C/0.2177;Gene=CHIAP2/NR_003928.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:9:0:0:12,23:375,688:33.48,0.00:6.24,0.00:27.24,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:48.2,15.3:0,0:0,0:79,101:72,46:46,29:NR_003928.1(CHIAP2) n.1121+77T>C,-:0.21,-:NOT_FOUND,- 1 111825754 rs4351635 C T 76 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.7825,T/0.2175;Gene=CHIAP2/NR_003928.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:40:0:0:34,25:1036,818:0.00,76.27:0.00,40.29:0.00,35.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,40.3:0,0:0,0:85,99:60,51:22,20:-,NR_003928.1(CHIAP2) n.1246+27C>T:-,0.21:-,NOT_FOUND 1 111825883 rs4406629 T C 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.5601,C/0.4399;PC=0.694;Gene=CHIAP2/NR_003928.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:30:0:0:24,27:772,832:73.30,0.00:44.66,0.00:28.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,7.7:0,0:0,0:87,69:63,81:39,44:NR_003928.1(CHIAP2) n.1247-25T>C,-:0.47,-:NOT_FOUND,- 1 111826055 rs12140873 A G 85 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.8844,G/0.1156;Gene=CHIAP2/NR_003928.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:23:0:0:28,28:947,887:0.00,85.19:0.00,25.75:0.00,59.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,37.9:0,0:0,0:105,102:46,48:29,27:-,NR_003928.1(CHIAP2) n.1370+24A>G:-,0.12:-,NOT_FOUND 1 111853115 . G . . NT END=111854310;NT GT ./. 1 111853174 rs56387509 C T 155 nt VT=SNV;PN=G;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.9345,T/0.0655;Gene=CHIA/NM_001040623.2/0;CC=c.-91+60C>T;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-98+60C>T;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-60-3988C>T;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-97-1137C>T;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-396+60C>T;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-230+60C>T;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-67-3988C>T;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.25+60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:133:50:0:0:77,56:2565,1677:0.00,155.01:0.00,35.79:0.00,119.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,36.0:0,0:0,0:108,98:43,46:24,34:-,NM_201653.3(CHIA) c.25+60C>T:-,0.07:-,0.118046 1 111854096 rs4839121 A G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01817,G/0.9818;PC=0.136;Gene=CHIA/NM_001040623.2/0;CC=c.-90-215A>G;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-97-215A>G;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-60-3066A>G;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-97-215A>G;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-395-215A>G;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-229-215A>G;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-67-3066A>G;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.26-215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:154:17.78:17.78:0.00:1.00:1.00:0.00:60:98.2:0:0:35:115:16:NM_201653.3(CHIA) c.26-215A>G,NM_201653.3(CHIA) c.26-215A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 111854120 rs12127313 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=CHIA/NM_001040623.2/0;CC=c.-90-191G>A;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-97-191G>A;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-60-3042G>A;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-97-191G>A;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-395-191G>A;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-229-191G>A;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-67-3042G>A;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.26-191G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,G:7:7:0:0:5,2:172,56:17.77,0.00:17.77,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:107.4,70.5:0,0:0,0:43,46:108,105:16,42:NM_201653.3(CHIA) c.26-191G>A,-:0.07,-:NOT_FOUND,- 1 111854207 rs4839122 T C 63 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.3133,C/0.6867;Gene=CHIA/NM_001040623.2/0;CC=c.-90-104T>C;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-97-104T>C;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-60-2955T>C;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-97-104T>C;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-395-104T>C;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-229-104T>C;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-67-2955T>C;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.26-104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:15:0:0:16:554:63.03:53.69:9.34:1.00:1.00:1.00:60:80.2:0:0:26:123:18:NM_201653.3(CHIA) c.26-104T>C,NM_201653.3(CHIA) c.26-104T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 111854223 rs6537695 C T 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4221,T/0.5779;Gene=CHIA/NM_001040623.2/0;CC=c.-90-88C>T;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-97-88C>T;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-60-2939C>T;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-97-88C>T;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-395-88C>T;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-229-88C>T;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-67-2939C>T;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.26-88C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:15:0:0:16:512:58.83:45.81:13.02:1.00:1.00:1.00:60:65.1:0:0:31:120:15:NM_201653.3(CHIA) c.26-88C>T,NM_201653.3(CHIA) c.26-88C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 1 111854341 . G . . NT END=111854811;NT GT ./. 1 111854755 rs4423003 A C 144 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.04193,C/0.9581,T/.;Gene=CHIA/NM_001040623.2/0;CC=c.-61+415A>C;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-68+415A>C;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-60-2407A>C;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-68+415A>C;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-366+415A>C;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-200+415A>C;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-67-2407A>C;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.56-57A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:37:0:0:40:1245:143.54:114.18:29.36:1.00:1.00:1.00:60:35.5:0:0:32:114:15:NM_201653.3(CHIA) c.56-57A>C,NM_201653.3(CHIA) c.56-57A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 111855014 . G . . NT END=111857161;NT GT ./. 1 111857154 rs2786152 T C 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.3442,C/0.6558;Gene=CHIA/NM_001040623.2/0;CC=c.-60-8T>C;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-67-8T>C;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-60-8T>C;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-67-8T>C;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-365-8T>C;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-199-8T>C;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-67-8T>C;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.258-8T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:29:0:0:14,18:465,552:43.65,0.00:30.53,0.00:13.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.7,14.8:0,0:0,0:53,63:93,79:17,36:NM_201653.3(CHIA) c.258-8T>C,-:0.61,-:0.718855,- 1 111857219 . G . . NT END=111857891;NT GT ./. 1 111857276 rs41391244 T C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8041,C/0.1959;PC=0.010;Gene=CHIA/NM_001040623.2/0;CC=c.-4+58T>C;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.-11+58T>C;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-4+58T>C;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.-11+58T>C;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-309+58T>C;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-143+58T>C;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.-11+58T>C;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.314+58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:14:0:0:14,10:462,346:45.80,0.00:16.99,0.00:28.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,2.1:0,0:0,0:106,79:44,71:17,23:NM_201653.3(CHIA) c.314+58T>C,-:0.17,-:0.244853,- 1 111857951 rs61756687 A G 155 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.9339,G/0.06609;PC=0.921;Gene=CHIA/NM_001040623.2/0;CC=c.-4+733A>G;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.50A>G;ProtCh=p.K17R;VC=Missense;Gene=CHIA/NM_001258002.1/0;CC=c.-4+733A>G;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.50A>G;ProtCh=p.K17R;VC=Missense;Gene=CHIA/NM_001258004.1/1;CC=c.-249A>G;VC=5UTR;Gene=CHIA/NM_001258005.1/0;CC=c.-142-405A>G;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.50A>G;ProtCh=p.K17R;VC=Missense;Gene=CHIA/NM_201653.3/0;CC=c.374A>G;ProtCh=p.K125R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:68:0:0:42,46:1381,1596:0.00,155.09:0.00,74.30:0.00,80.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,38.8:0,0:0,0:60,62:89,86:33,34:-,NM_201653.3(CHIA) c.374A>G (p.Lys125Arg):-,0.07:-,0.11241 1 111858058 . G . . NT END=111860302;NT GT ./. 1 111858200 rs41282500 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9343,A/0.06569;Gene=CHIA/NM_001040623.2/0;CC=c.-4+982G>A;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.156+143G>A;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.-4+982G>A;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.156+143G>A;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.-143+143G>A;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.-142-156G>A;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.156+143G>A;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.480+143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,G:12:0:0:0:4,8:126,253:11.19,0.00:0.00,0.00:11.19,0.00:0.80,0.00:0.00,0.00:0.80,0.00:60,60:31.5,0.0:0,0:0,0:103,93:47,56:7,34:NM_201653.3(CHIA) c.480+143G>A,-:0.07,-:NOT_FOUND,- 1 111860428 . G . . NT END=111860607;NT GT ./. 1 111860732 . G . . NT END=111861114;NT GT ./. 1 111861301 . G . . NT END=111861741;NT GT ./. 1 111861714 rs2786161 T A 98 nt VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.3764,A/0.6236;PC=0.001;Gene=CHIA/NM_001040623.2/0;CC=c.433-28T>A;VC=Intron;Gene=CHIA/NM_001258001.1/0;CC=c.592-28T>A;VC=Intron;Gene=CHIA/NM_001258002.1/0;CC=c.433-28T>A;VC=Intron;Gene=CHIA/NM_001258003.1/0;CC=c.592-28T>A;VC=Intron;Gene=CHIA/NM_001258004.1/1;CC=c.433-28T>A;VC=Intron;Gene=CHIA/NM_001258005.1/0;CC=c.433-28T>A;VC=Intron;Gene=CHIA/NM_021797.3/0;CC=c.592-28T>A;VC=Intron;Gene=CHIA/NM_201653.3/0;CC=c.916-28T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:82:73:0:0:33,49:1060,1535:97.76,0.00:82.36,0.00:15.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,9.6:0,0:0,0:64,56:87,88:32,32:NM_201653.3(CHIA) c.916-28T>A,-:0.58,-:0.682021,- 1 111861841 rs2275253 A G 199 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=A/0.3409,G/0.6591;Gene=CHIA/NM_001040623.2/0;CC=c.532A>G;ProtCh=p.I178V;VC=Missense;Gene=CHIA/NM_001258001.1/0;CC=c.691A>G;ProtCh=p.I231V;VC=Missense;Gene=CHIA/NM_001258002.1/0;CC=c.532A>G;ProtCh=p.I178V;VC=Missense;Gene=CHIA/NM_001258003.1/0;CC=c.691A>G;ProtCh=p.I231V;VC=Missense;Gene=CHIA/NM_001258004.1/1;CC=c.532A>G;ProtCh=p.I178V;VC=Missense;Gene=CHIA/NM_001258005.1/0;CC=c.532A>G;ProtCh=p.I178V;VC=Missense;Gene=CHIA/NM_021797.3/0;CC=c.691A>G;ProtCh=p.I231V;VC=Missense;Gene=CHIA/NM_201653.3/0;CC=c.1015A>G;ProtCh=p.I339V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:126:82:0:0:60,66:2029,2056:0.00,198.86:0.00,89.40:0.00,109.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,45.4:0,0:0,0:73,68:75,74:35,33:-,NM_201653.3(CHIA) c.1015A>G (p.Ile339Val):-,0.62:-,0.722359 1 111861862 . G . . NT END=111861948;NT GT ./. 1 111861974 rs2275254 T C 115 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.5577,C/0.4423;PC=1.000;Gene=CHIA/NM_001040623.2/0;CC=c.578T>C;ProtCh=p.F193S;VC=Missense;Gene=CHIA/NM_001258001.1/0;CC=c.737T>C;ProtCh=p.F246S;VC=Missense;Gene=CHIA/NM_001258002.1/0;CC=c.578T>C;ProtCh=p.F193S;VC=Missense;Gene=CHIA/NM_001258003.1/0;CC=c.737T>C;ProtCh=p.F246S;VC=Missense;Gene=CHIA/NM_001258004.1/1;CC=c.578T>C;ProtCh=p.F193S;VC=Missense;Gene=CHIA/NM_001258005.1/0;CC=c.578T>C;ProtCh=p.F193S;VC=Missense;Gene=CHIA/NM_021797.3/0;CC=c.737T>C;ProtCh=p.F246S;VC=Missense;Gene=CHIA/NM_201653.3/0;CC=c.1061T>C;ProtCh=p.F354S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:102:66:0:0:39,63:1256,2038:114.72,0.00:49.12,0.00:65.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.7,4.2:0,0:0,0:63,71:88,80:37,38:NM_201653.3(CHIA) c.1061T>C (p.Phe354Ser),-:0.43,-:0.499539,- 1 111862091 . G . . NT END=111862834;NT GT ./. 1 111862952 rs2256721 T G 240 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=143;DB;DBA=NA;PAF=T/0.3427,G/0.6573;PC=0.986;Gene=CHIA/NM_001040623.2/0;CC=c.812T>G;ProtCh=p.V271G;VC=Missense;Gene=CHIA/NM_001258001.1/0;CC=c.971T>G;ProtCh=p.V324G;VC=Missense;Gene=CHIA/NM_001258002.1/0;CC=c.812T>G;ProtCh=p.V271G;VC=Missense;Gene=CHIA/NM_001258003.1/0;CC=c.971T>G;ProtCh=p.V324G;VC=Missense;Gene=CHIA/NM_001258004.1/1;CC=c.812T>G;ProtCh=p.V271G;VC=Missense;Gene=CHIA/NM_001258005.1/0;CC=c.812T>G;ProtCh=p.V271G;VC=Missense;Gene=CHIA/NM_021797.3/0;CC=c.971T>G;ProtCh=p.V324G;VC=Missense;Gene=CHIA/NM_201653.3/0;CC=c.1295T>G;ProtCh=p.V432G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:143:111:0:0:1,74,68:10,2477,2151:-0.13,240.31,0.00:-0.04,119.24,0.00:-0.09,121.07,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:168.0,37.1,7.6:0,0,0:0,0,0:46,66,65:93,79,78:0,25,31:NM_201653.3(CHIA) c.1295T>G (p.Val432Gly),-:0.62,-:0.720667,- 1 111863089 . A . . NT END=111867336;NT GT ./. 1 111866709 rs115996540 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9914,A/0.008586;NP=61;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:4:0:0:8,12:267,396:24.67,0.00:5.05,0.00:19.62,0.00:0.99,0.00:0.87,0.00:1.00,0.00:60,60:33.4,16.7:0,0:0,0:135,129:15,20:9,14:chr1 g.111866708G>A (intergenic),-:0.01,-:NOT_FOUND,- 1 111867512 . G . . NT END=111889194;NT GT ./. 1 111889294 . G . . NT END=111889531;NT GT ./. 1 111889672 . G . . NT END=111890295;NT GT ./. 1 111890240 rs142260201 C CT 8 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=104;NP=302;NP=6;Gene=PIFO/NM_001300831.1/0;CC=c.159+572_159+573insT;VC=Intron;Gene=PIFO/NM_181643.5/1;CC=c.160-53_160-52insT;VC=Intron;Gene=PIFO/NR_125338.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T,CT:18:17:3:0:14,1,3:452,29,97:0.00,1.78,7.69:0.00,1.83,7.85:0.00,-0.05,-0.16:0.00,0.00,0.52:0.00,0.00,0.91:0.00,0.00,0.47:60,37,60:36.8,182.0,116.3:4,0,0:0,0,0:85,0,46:56,126,104:44,0,44:-,NM_181643.4(PIFO) c.160-56_160-55insT:-,NOT_FOUND:-,NOT_FOUND 1 111890395 . G . . NT END=111891137;NT GT ./. 1 111891170 rs15396 A C 57 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.9792,C/0.02077;Gene=PIFO/NM_001300831.1/0;CC=c.192A>C;ProtCh=p.K64N;VC=Missense;Gene=PIFO/NM_181643.5/1;CC=c.291A>C;ProtCh=p.K97N;VC=Missense;Gene=PIFO/NR_125338.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:29:0:0:22,18:745,600:0.00,56.63:0.00,37.43:0.00,19.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,41.1:0,0:0,0:72,69:78,72:49,37:-,NM_181643.4(PIFO) c.291A>C (p.Lys97Asn):-,0.03:-,0.049131 1 111891269 . G . . NT END=111892727;NT GT ./. 1 111892846 . G . . NT END=111893880;NT GT ./. 1 111893950 . G . . NT END=111957085;NT GT ./. 1 111957097 rs7825 C G 88 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.3776,G/0.6224;Gene=OVGP1/NM_002557.3/1;CC=c.2026G>C;ProtCh=p.E676Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:84:75:0:0:53,31:1750,976:0.00,88.34:0.00,74.02:0.00,14.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,45.2:0,0:0,0:70,40:81,111:39,17:-,NM_002557.3(OVGP1) c.2026G>C (p.Glu676Gln):-,0.57:-,0.524685 1 111957245 rs9629 G A 141 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.8083,A/0.1917;Gene=OVGP1/NM_002557.3/1;CC=c.1878C>T;ProtCh=p.P626=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:113:68:0:0:46,66,1:1520,1943,14:141.13,0.00,-0.04:66.90,0.00,-0.12:74.23,0.00,0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.5,10.3,175.0:0,0,0:0,0,0:60,56,145:87,84,5:37,27,0:NM_002557.3(OVGP1) c.1878C>T (p.(=)),-:0.2,-:0.238582,- 1 111957517 rs3767609 T C 67 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.6999,C/0.3001;Gene=OVGP1/NM_002557.3/1;CC=c.1606A>G;ProtCh=p.S536G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:82:59:0:0:25,1,56:770,6,1818:67.20,-0.25,0.00:30.44,-0.13,0.00:36.76,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.7,18.0,19.6:0,0,0:0,0,0:121,125,79:12,12,67:17,0,35:NM_002557.3(OVGP1) c.1606A>G (p.Ser536Gly),-:NOT_FOUND,-:0.277371,- 1 111957570 rs45455292 G C 59 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.8183,C/0.1817;PC=0.001;Gene=OVGP1/NM_002557.3/1;CC=c.1553C>G;ProtCh=p.T518S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:74:47:0:0:20,53,1:680,1640,12:58.95,0.00,-0.12:25.83,0.00,0.04:33.12,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:119.0,17.0,12.0:0,0,0:0,0,0:24,74,84:108,75,65:15,32,0:NM_002557.3(OVGP1) c.1553C>G (p.Thr518Ser),-:0.13,-:NOT_FOUND,- 1 111957583 rs1126656 A G 70 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=NA;Gene=OVGP1/NM_002557.3/1;CC=c.1540T>C;ProtCh=p.Y514H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:51:0:0:60,24:1785,805:0.00,70.16:0.00,33.05:0.00,37.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,115.2:0,0:0,0:79,32:67,105:35,17:-,NM_002557.3(OVGP1) c.1540T>C (p.Tyr514His):-,0.19:-,NOT_FOUND 1 111957592 rs56294468 A G 81 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.7768,G/0.2232;Gene=OVGP1/NM_002557.3/1;CC=c.1531T>C;ProtCh=p.S511P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:89:57:0:0:60,29:1857,912:0.00,80.66:0.00,37.81:0.00,42.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,107.8:0,0:0,0:73,34:66,111:36,21:-,NM_002557.3(OVGP1) c.1531T>C (p.Ser511Pro):-,0.2:-,0.258241 1 111957693 rs2485319 A G 209 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=A/0.3682,G/0.6318;Gene=OVGP1/NM_002557.3/1;CC=c.1430T>C;ProtCh=p.M477T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:110:72:0:0:43,66,1:1356,2092,15:0.00,208.91,0.09:0.00,107.53,0.18:0.00,101.38,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.6,53.3,100.0:0,0,0:0,0,0:101,73,28:47,74,114:32,23,0:-,NM_002557.3(OVGP1) c.1430T>C (p.Met477Thr):-,0.58:-,0.531831 1 111957967 . C . . NT END=111958944;NT GT ./. 1 111959081 . C . . NT END=111962231;NT GT ./. 1 111962349 . C . . NT END=111963897;NT GT ./. 1 111962455 rs1264881 C T 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5369,T/0.4631;PC=0.009;Gene=OVGP1/NM_002557.3/1;CC=c.904-107G>A;VC=Intron;DM=OVGP1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:10,9:298,298:0.00,28.39:0.00,0.00:0.00,28.39:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.8,40.2:0,0:0,0:137,113:13,38:6,29:-,NM_002557.3(OVGP1) c.904-107G>A:-,0.44:-,NOT_FOUND 1 111964084 . C . . NT END=111964186;NT GT ./. 1 111964296 . C . . NT END=111965548;NT GT ./. 1 111965674 . C . . NT END=111966164;NT GT ./. 1 111966291 rs954739 C T 68 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.8498,T/0.1502;Gene=OVGP1/NM_002557.3/1;CC=c.357G>A;ProtCh=p.K119=;VC=Silent;DM=OVGP1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:35:0:0:37,24:1271,741:0.00,67.76:0.00,25.44:0.00,42.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,35.8:0,0:0,0:82,61:67,88:44,40:-,NM_002557.3(OVGP1) c.357G>A (p.(=)):-,0.15:-,0.204829 1 111966331 . C . . NT END=111968004;NT GT ./. 1 111968128 . C . . NT END=111969058;NT GT ./. 1 111968316 rs1264888 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4589,A/0.5411;Gene=OVGP1/NM_002557.3/1;CC=c.261-255C>T;VC=Intron;DM=OVGP1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,G,T:14:0:0:0:6,7,1:170,220,12:15.93,0.00,0.39:0.00,0.00,0.00:15.93,0.00,0.39:0.96,0.00,0.00:0.00,0.00,0.00:0.96,0.00,0.00:60,60,60:83.3,17.1,60.0:0,0,0:0,0,0:109,123,18:42,28,133:17,26,0:NM_002557.3(OVGP1) c.261-255C>T,-:0.51,-:NOT_FOUND,- 1 111968327 rs1264889 T C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4187,C/0.5813;Gene=OVGP1/NM_002557.3/1;CC=c.261-266A>G;VC=Intron;DM=OVGP1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:12:0:0:0:6,6:202,192:19.45,0.00:0.00,0.00:19.45,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:83.3,12.0:0,0:0,0:120,66:31,85:17,22:NM_002557.3(OVGP1) c.261-266A>G,-:0.55,-:NOT_FOUND,- 1 111968743 rs1264891 A G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4187,G/0.5813;Gene=OVGP1/NM_002557.3/1;CC=c.260+316T>C;VC=Intron;DM=OVGP1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:8:8:0:0:4,4:133,127:0.00,12.20:0.00,12.20:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:7.0,58.2:0,0:0,0:39,58:110,92:4,36:-,NM_002557.3(OVGP1) c.260+316T>C:-,0.55:-,NOT_FOUND 1 111969294 rs1264892 A G 143 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.4028,G/0.5972;PC=0.001;Gene=OVGP1/NM_002557.3/1;CC=c.56-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:113:74:0:0:67,46:2127,1539:0.00,142.69:0.00,82.10:0.00,60.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,69.8:0,0:0,0:54,66:90,83:35,38:-,NM_002557.3(OVGP1) c.56-31T>C:-,0.56:-,0.50123 1 111969307 rs2275795 G C 137 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.7228,C/0.2772;Gene=OVGP1/NM_002557.3/1;CC=c.56-44C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:111:74:0:0:47,64:1478,1920:137.30,0.00:91.80,0.00:45.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,8.1:0,0:0,0:66,54:81,96:32,27:NM_002557.3(OVGP1) c.56-44C>G,-:0.26,-:0.288482,- 1 111969719 rs1264894 A G 182 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.4185,G/0.5815;PC=0.003;Gene=OVGP1/NM_002557.3/1;CC=c.26-6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:123:78:0:0:59,64:1873,1884:0.00,181.83:0.00,93.04:0.00,88.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,41.9:0,0:0,0:46,63:102,83:27,37:-,NM_002557.3(OVGP1) c.26-6T>C:-,0.55:-,0.48739 1 111970051 . t . . NT END=111970318;NT GT ./. 1 111970344 . C . . NT END=111983858;NT GT ./. 1 111970431 rs111282829 T TAC 9 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=490;PC=0.004;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T,TAC,D:32:11:4:2:1,25,4,2:29,730,121,65:1.53,0.00,8.95,4.35:-0.09,0.00,1.06,2.39:1.62,0.00,7.89,1.96:0.00,0.00,0.63,0.00:0.00,0.00,0.70,0.00:0.00,0.00,0.92,0.00:60,60,60,60:65.0,13.2,12.5,57.0:0,0,0,0:0,0,0,0:49,130,14,47:57,20,137,102:0,9,5,35:-,NM_002557.3(OVGP1) c.-56-u33_-56-u32insGT:-,NOT_FOUND:-,NOT_FOUND 1 111984012 . C . . NT END=111984120;NT GT ./. 1 111984227 . C . . NT END=111984646;NT GT ./. 1 111984716 . C . . NT END=111985274;NT GT ./. 1 111985229 rs1264902 G T 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.4191,T/0.5809;Gene=WDR77/NM_001317062/0;CC=c.800+46C>A;VC=Intron;Gene=WDR77/NM_001317063/0;CC=c.800+46C>A;VC=Intron;Gene=WDR77/NM_001317064/0;CC=c.608+46C>A;VC=Intron;Gene=WDR77/NM_024102.2/1;CC=c.800+46C>A;VC=Intron;Gene=WDR77/NR_133654/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:39:37:0:0:20,19:606,637:0.00,61.03:0.00,47.19:0.00,13.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,35.7:0,0:0,0:25,56:125,95:20,34:-,NM_024102.2(WDR77) c.800+46C>A:-,0.55:-,0.486696 1 111985384 . C . . NT END=111985944;NT GT ./. 1 111986017 . C . . NT END=111986277;NT GT ./. 1 111986348 . C . . NT END=111986487;NT GT ./. 1 111986544 . C . . NT END=111986674;NT GT ./. 1 111986747 . C . . NT END=111989715;NT GT ./. 1 111989767 . C . . NT END=111990055;NT GT ./. 1 111990199 . C . . NT END=111991239;NT GT ./. 1 111990265 rs2298185 T C 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.8524,C/0.1476;PC=0.297;Gene=WDR77/NM_001317062/0;CC=c.302-67A>G;VC=Intron;Gene=WDR77/NM_001317063/0;CC=c.302-67A>G;VC=Intron;Gene=WDR77/NM_001317064/0;CC=c.301+976A>G;VC=Intron;Gene=WDR77/NM_024102.2/1;CC=c.302-67A>G;VC=Intron;Gene=WDR77/NR_133654/0;VC=NonCoding;DM=WDR77/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:12:0:0:18,25:624,819:58.29,0.00:7.94,0.00:50.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,9.0:0,0:0,0:97,103:51,48:36,29:NM_024102.2(WDR77) c.302-67A>G,-:0.15,-:NOT_FOUND,- 1 111991427 . C . . NT END=111991477;NT GT ./. 1 111991572 . G . . NT END=111991675;NT GT ./. 1 111991845 rs1270853 C A 410 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=306;DB;DBA=NA;PAF=C/0.4679,A/0.5321,T/.;Gene=WDR77/NM_001317062/0;CC=c.-54G>T;VC=5UTR;Gene=WDR77/NM_001317063/0;CC=c.-54G>T;VC=5UTR;Gene=WDR77/NM_001317064/0;CC=c.-54G>T;VC=5UTR;Gene=WDR77/NM_024102.2/1;CC=c.-54G>T;VC=5UTR;Gene=WDR77/NR_133654/0;VC=NonCoding;Gene=ATP5F1/NM_001688.4/1;CC=c.-319C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:306:206:0:0:135,170,1:4363,5036,26:409.93,0.00,0.44:189.56,0.00,0.54:220.37,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.3,15.6,39.0:0,0,0:0,0,0:72,77,149:72,66,2:37,38,0:NM_001688.4(ATP5F1) c.-319C>A,-:0.51,-:NOT_FOUND,- 1 111992095 rs1264899 C T 194 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5076,T/0.4924;Gene=ATP5F1/NM_001688.4/1;CC=c.-69C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:132:55:0:0:1,66,65:7,2090,2029:-0.19,0.00,194.42:-0.05,0.00,50.72:-0.15,0.00,143.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:55.0,9.9,43.2:0,0,0:0,0,0:110,79,67:41,70,81:0,49,43:-,NM_001688.4(ATP5F1) c.-69C>T:-,0.47:-,0.403636 1 111992204 . G . . NT END=111992458;NT GT ./. 1 111992496 . G . . NT END=111996832;NT GT ./. 1 111996979 . G . . NT END=111998707;NT GT ./. 1 111998679 rs12047479 C A 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.6691,A/0.3309,T/.;PC=0.006;Gene=ATP5F1/NM_001688.4/1;CC=c.224-29C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:26:23:0:0:14,11,1:465,345,8:45.73,0.00,0.01:36.70,0.00,0.05:9.03,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.6,11.3,90.0:0,0,0:0,0,0:52,68,45:94,82,106:14,24,0:NM_001688.4(ATP5F1) c.224-29C>A,-:0.3,-:0.351299,- 1 111998872 . G . . NT END=111999251;NT GT ./. 1 111999378 . G . . NT END=112002078;NT GT ./. 1 111999584 rs7520781 T A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6562,A/0.3438;PC=0.013;Gene=ATP5F1/NM_001688.4/1;CC=c.513+207T>A;VC=Intron;DM=ATP5F1/Mt_ATP-synt_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,T:9:0:0:0:5,4:158,135:15.50,0.00:0.00,0.00:15.50,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:62.6,0.0:0,0:0,0:94,97:57,53:9,20:NM_001688.4(ATP5F1) c.513+207T>A,-:0.32,-:NOT_FOUND,- 1 112002259 . G . . NT END=112003538;NT GT ./. 1 112003617 . A . . NT END=112018642;NT GT ./. 1 112018657 rs6703267 G A 48 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.8099,A/0.1901;Gene=C1orf162/NM_001300834.1/1;CC=c.7G>A;ProtCh=p.G3S;VC=Missense;Gene=C1orf162/NM_001300835.1/0;CC=c.15G>A;ProtCh=p.E5=;VC=Silent;Gene=C1orf162/NM_174896.3/0;CC=c.7G>A;ProtCh=p.G3S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:26:0:0:15,19:508,626:47.83,0.00:27.36,0.00:20.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,6.9:0,0:0,0:52,78:99,70:14,28:NM_174896.2(C1orf162) c.7G>A (p.Gly3Ser),-:0.19,-:0.244733,- 1 112018688 . G . . NT END=112019419;NT GT ./. 1 112019490 . G . . NT END=112019955;NT GT ./. 1 112020051 . G . . NT END=112020272;NT GT ./. 1 112020222 rs3831358 GC G 115 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=2939;Gene=C1orf162/NM_001300834.1/1;CC=c.203-120delC;VC=Intron;Gene=C1orf162/NM_001300835.1/0;CC=c.116-45delC;VC=Intron;Gene=C1orf162/NM_174896.3/0;CC=c.203-45delC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:GC,G:36:25:0:34:2,34:48,1018:0.00,114.75:0.00,62.28:0.00,52.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:141.5,65.1:0,0:0,0:50,58:85,89:2,27:NM_174896.2(C1orf162) c.203-50delC,NM_174896.2(C1orf162) c.203-50delC:NOT_FOUND,NOT_FOUND:0.689143,0.689143 1 112020224 rs115634476 C A 103 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=2923;PC=0.001;Gene=C1orf162/NM_001300834.1/1;CC=c.203-124C>A;VC=Intron;Gene=C1orf162/NM_001300835.1/0;CC=c.116-49C>A;VC=Intron;Gene=C1orf162/NM_174896.3/0;CC=c.203-49C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A,C:34:23:0:0:33,1:898,35:103.35,0.00:58.78,0.00:44.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.2,127.0:0,1:0,0:58,54:90,83:28,0:NM_174896.2(C1orf162) c.203-49C>A,NM_174896.2(C1orf162) c.203-49C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 112020238 rs2211494 A C 153 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=3431;Gene=C1orf162/NM_001300834.1/1;CC=c.203-110A>C;VC=Intron;Gene=C1orf162/NM_001300835.1/0;CC=c.116-35A>C;VC=Intron;Gene=C1orf162/NM_174896.3/0;CC=c.203-35A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:C:46:36:0:0:46:1310:152.58:96.52:56.06:1.00:1.00:1.00:60:61.7:0:0:60:86:33:NM_174896.2(C1orf162) c.203-35A>C,NM_174896.2(C1orf162) c.203-35A>C:1,1:NOT_FOUND,NOT_FOUND 1 112020398 . G . . NT END=112020604;NT GT ./. 1 112020746 . C . . NT END=112026308;NT GT ./. 1 112021029 rs1054680 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6006,G/0.3994;PC=0.006;Gene=C1orf162/NM_001300834.1/1;CC=c.*284A>G;VC=3UTR;Gene=C1orf162/NM_001300835.1/0;CC=c.*284A>G;VC=3UTR;Gene=C1orf162/NM_174896.3/0;CC=c.*284A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:0:0:0:2,3:71,97:0.00,9.67:0.00,0.00:0.00,9.67:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,32.3:0,0:0,0:101,85:49,66:15,8:-,NM_174896.2(C1orf162) c.*286G>A:-,0.38:-,NOT_FOUND 1 112026152 rs7737 C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8604,T/0.1396;Gene=TMIGD3/NM_020683.6/0;CC=c.*157G>A;VC=3UTR;Gene=TMIGD3/NM_001081976.2/1;CC=c.*157G>A;VC=3UTR;Gene=TMIGD3/NM_001302680.1/0;CC=c.*157G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:11:11:0:0:5,6:126,211:0.00,20.68:0.00,20.68:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:58.4,41.2:0,0:0,0:39,80:112,69:38,19:-,NM_001081976.1(ADORA3) c.*157G>A:-,0.17:-,NOT_FOUND 1 112026380 . C . . NT END=112028361;NT GT ./. 1 112028463 . C . . NT END=112029207;NT GT ./. 1 112028577 rs2275796 A T 90 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.5689,T/0.4311;PC=0.009;Gene=TMIGD3/NM_020683.6/0;CC=c.873-115T>A;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.630-115T>A;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.366-115T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:0:0:0:24:786:90.00:0.00:90.00:1.00:0.00:1.00:60:40.4:0:0:92:58:40:NM_001081976.1(ADORA3) c.630-115T>A,NM_001081976.1(ADORA3) c.630-115T>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 112029193 rs2252739 A G 139 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.2093,G/0.7907;Gene=TMIGD3/NM_020683.6/0;CC=c.872+15T>C;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.629+15T>C;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.365+15T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:G:40:32:0:0:40:1207:139.41:73.61:65.80:1.00:1.00:1.00:60:48.6:0:0:40:108:19:NM_001081976.1(ADORA3) c.629+15T>C,NM_001081976.1(ADORA3) c.629+15T>C:0.81,0.81:0.795095,0.795095 1 112029275 . C . . NT END=112031298;NT GT ./. 1 112029325 rs2800906 A G 85 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2121,G/0.7879;Gene=TMIGD3/NM_020683.6/0;CC=c.806-51T>C;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.563-51T>C;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.299-51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:11:0:0:22:746:85.04:27.27:57.77:1.00:1.00:1.00:60:48.2:0:0:106:40:23:NM_001081976.1(ADORA3) c.563-51T>C,NM_001081976.1(ADORA3) c.563-51T>C:0.81,0.81:0.792096,0.792096 1 112031647 . C . . NT END=112032088;NT GT ./. 1 112032347 . G . . NT END=112033277;NT GT ./. 1 112032347 rs2789539 G A 292 nt VT=SNV;PN=T;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.5104,A/0.4896;Gene=TMIGD3/NM_020683.6/0;CC=c.458-701C>T;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.215-701C>T;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-858C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:33:0:0:78:2550:292.17:88.42:203.75:1.00:1.00:1.00:60:36.5:0:0:87:59:29:NM_001081976.1(ADORA3) c.215-701C>T,NM_001081976.1(ADORA3) c.215-701C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 112033385 . C . . NT END=112042050;NT GT ./. 1 112033456 rs3831359 G GA 51 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.4862,GA/0.5138;NP=1961;Gene=TMIGD3/NM_020683.6/0;CC=c.351-73dupT;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-73dupT;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-1968dupT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:G,GA:16:2:15:0:1,15:13,454:0.00,51.02:0.00,7.00:0.00,44.02:0.00,1.00:0.00,1.00:0.00,1.00:60,70:142.0,41.2:0,0:0,0:144,84:4,60:0,23:NM_001081976.1(ADORA3) c.108-73_108-72insT,NM_001081976.1(ADORA3) c.108-73_108-72insT:0.55,0.55:NOT_FOUND,NOT_FOUND 1 112033515 rs2252198 T C 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4862,C/0.5138;Gene=TMIGD3/NM_020683.6/0;CC=c.351-131A>G;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-131A>G;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-2026A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:381:43.35:0.00:43.35:1.00:0.00:1.00:70:72.7:0:0:126:24:16:NM_001081976.1(ADORA3) c.108-131A>G,NM_001081976.1(ADORA3) c.108-131A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 112033519 rs2252197 A G 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4864,G/0.5136;Gene=TMIGD3/NM_020683.6/0;CC=c.351-135T>C;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-135T>C;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-2030T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:377:42.95:0.00:42.95:1.00:0.00:1.00:70:72.7:0:0:130:20:16:NM_001081976.1(ADORA3) c.108-135T>C,NM_001081976.1(ADORA3) c.108-135T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 112042131 rs3394 T C 272 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.2264,C/0.7736;Gene=TMIGD3/NM_020683.6/0;CC=c.350+3496A>G;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-8747A>G;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-10642A>G;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.*441A>G;VC=3UTR;Gene=ADORA3/NM_001302678.1/0;CC=c.*1090A>G;VC=3UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.*441A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:73:57:0:0:73:2368:271.52:163.86:107.67:1.00:1.00:1.00:60:92.2:0:0:81:64:33:NM_000677.3(ADORA3) c.*441A>G,NM_000677.3(ADORA3) c.*441A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 112042149 rs3393 C T 245 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.5689,T/0.4311;Gene=TMIGD3/NM_020683.6/0;CC=c.350+3478G>A;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-8765G>A;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-10660G>A;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.*423G>A;VC=3UTR;Gene=ADORA3/NM_001302678.1/0;CC=c.*1072G>A;VC=3UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.*423G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:51:0:0:70:2124:245.48:142.42:103.06:1.00:1.00:1.00:60:104.8:0:0:75:74:31:NM_000677.3(ADORA3) c.*423G>A,NM_000677.3(ADORA3) c.*423G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 112042195 rs1415792 T C 265 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.2264,C/0.7736;Gene=TMIGD3/NM_020683.6/0;CC=c.350+3432A>G;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-8811A>G;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-10706A>G;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.*377A>G;VC=3UTR;Gene=ADORA3/NM_001302678.1/0;CC=c.*1026A>G;VC=3UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.*377A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:44:0:0:70:2322:265.46:135.95:129.51:1.00:1.00:1.00:60:104.8:0:0:71:75:40:NM_000677.3(ADORA3) c.*377A>G,NM_000677.3(ADORA3) c.*377A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 112042236 rs1415793 G A 231 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.2266,A/0.7734;Gene=TMIGD3/NM_020683.6/0;CC=c.350+3391C>T;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-8852C>T;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-10747C>T;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.*336C>T;VC=3UTR;Gene=ADORA3/NM_001302678.1/0;CC=c.*985C>T;VC=3UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.*336C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A:63:38:0:0:63:2013:231.18:110.56:120.62:1.00:1.00:1.00:60:90.0:0:0:70:76:33:NM_000677.3(ADORA3) c.*336C>T,NM_000677.3(ADORA3) c.*336C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 1 112042383 rs923 G A 313 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.2266,A/0.7734;PC=0.003;Gene=TMIGD3/NM_020683.6/0;CC=c.350+3244C>T;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-8999C>T;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-10894C>T;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.*189C>T;VC=3UTR;Gene=ADORA3/NM_001302678.1/0;CC=c.*838C>T;VC=3UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.*189C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:84:50:0:0:83,1:2737,9:312.75,0.09:137.56,0.09:175.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.1,188.0:0,0:0,0:68,22:82,129:33,0:NM_000677.3(ADORA3) c.*189C>T,NM_000677.3(ADORA3) c.*189C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 1 112042632 rs2229155 A G 268 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.2264,G/0.7736;PC=0.960;Gene=TMIGD3/NM_020683.6/0;CC=c.350+2995T>C;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-9248T>C;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-11143T>C;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.897T>C;ProtCh=p.A299=;VC=Silent;Gene=ADORA3/NM_001302678.1/0;CC=c.*589T>C;VC=3UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.462T>C;ProtCh=p.A154=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:43:0:0:76:2322:268.15:128.66:139.49:1.00:1.00:1.00:60:43.1:0:0:77:74:36:NM_000677.3(ADORA3) c.897T>C (p.(=)),NM_000677.3(ADORA3) c.897T>C (p.(=)):0.8,0.8:0.79002,0.79002 1 112043179 . C . . NT END=112045626;NT GT ./. 1 112043328 rs2798566 T C 60 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2264,C/0.7736;Gene=TMIGD3/NM_020683.6/0;CC=c.350+2299A>G;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-9944A>G;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-11839A>G;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.351-150A>G;VC=Intron;Gene=ADORA3/NM_001302678.1/0;CC=c.351-86A>G;VC=Intron;Gene=ADORA3/NM_001302679.1/0;CC=c.-85-150A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:0:0:0:18:520:60.46:0.00:60.46:1.00:0.00:1.00:60:41.7:0:0:86:64:26:NM_000677.3(ADORA3) c.351-150A>G,NM_000677.3(ADORA3) c.351-150A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 112043543 rs56907773 CT C 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CT/0.5569,C/0.4431;NP=28;PC=0.021;Gene=TMIGD3/NM_020683.6/0;CC=c.350+2083delA;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-10160delA;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-12055delA;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.351-366delA;VC=Intron;Gene=ADORA3/NM_001302678.1/0;CC=c.351-302delA;VC=Intron;Gene=ADORA3/NM_001302679.1/0;CC=c.-85-366delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CT,C:3:1:0:3:1,2:35,97:0.00,6.45:0.00,-0.15:0.00,6.60:0.00,0.51:0.00,0.67:0.00,0.51:60,60:0.0,0.0:0,1:0,0:87,93:63,57:0,9:-,NM_000677.3(ADORA3) c.351-366delA:-,NOT_FOUND:-,NOT_FOUND 1 112045463 rs12127443 T A 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2985,A/0.7015;Gene=TMIGD3/NM_020683.6/0;CC=c.350+164A>T;VC=Intron;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-12079A>T;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-13974A>T;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.350+164A>T;VC=Intron;Gene=ADORA3/NM_001302678.1/0;CC=c.350+164A>T;VC=Intron;Gene=ADORA3/NM_001302679.1/0;CC=c.-86+658A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:597:68.28:68.28:0.00:1.00:1.00:0.00:60:34.4:0:0:38:112:21:NM_000677.3(ADORA3) c.350+164A>T,NM_000677.3(ADORA3) c.350+164A>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 112046540 rs1544224 A G 287 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.3075,G/0.6925;Gene=TMIGD3/NM_020683.6/0;CC=c.-564T>C;VC=5UTR;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-13156T>C;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-15051T>C;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.-564T>C;VC=5UTR;Gene=ADORA3/NM_001302678.1/0;CC=c.-564T>C;VC=5UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.-505T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:83:49:0:0:1,1,81:8,5,2504:0.00,0.02,287.02:0.00,0.00,128.76:0.00,0.02,158.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:185.0,24.0,62.2:0,0,0:0,0,0:85,87,83:66,64,66:0,0,32:NM_000677.3(ADORA3) c.-564T>C,NM_000677.3(ADORA3) c.-564T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 112046557 rs1544223 C T 307 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.3083,T/0.6917;Gene=TMIGD3/NM_020683.6/0;CC=c.-581G>A;VC=5UTR;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-13173G>A;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-15068G>A;VC=Intron;Gene=ADORA3/NM_000677.3/1;CC=c.-581G>A;VC=5UTR;Gene=ADORA3/NM_001302678.1/0;CC=c.-581G>A;VC=5UTR;Gene=ADORA3/NM_001302679.1/0;CC=c.-522G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:86:51:0:0:1,85:11,2670:0.15,306.91:0.15,144.64:0.00,162.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:147.0,63.5:0,0:0,0:8,86:142,59:0,35:NM_000677.3(ADORA3) c.-581G>A,NM_000677.3(ADORA3) c.-581G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 112046744 . C . . NT END=112047476;NT GT ./. 1 112047120 rs10776728 T A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4549,A/0.5451;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-13736A>T;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-15631A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,T:5:2:0:0:2,3:70,73:6.51,0.00:-0.43,0.00:6.94,0.00:0.46,0.00:0.70,0.00:0.80,0.00:60,60:45.0,20.7:0,0:0,0:59,52:92,99:10,45:NM_000677.3(ADORA3) c.-767-u377A>T,-:0.58,-:NOT_FOUND,- 1 112047345 rs10857887 A G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.3101,G/0.6899;Gene=TMIGD3/NM_001081976.2/1;CC=c.108-13961T>C;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.108-15856T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:27:0:0:13,14:436,384:0.00,36.94:0.00,36.94:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.5,42.1:0,0:0,0:59,31:92,118:20,18:-,NM_000677.3(ADORA3) c.-767-u602T>C:-,0.71:-,NOT_FOUND 1 112047662 . A . . NT END=112106467;NT GT ./. 1 112106342 rs1591711 C T 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4698,T/0.5302;PC=0.001;Gene=TMIGD3/NM_001081976.2/1;CC=c.107+126G>A;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.107+126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:19:0:0:19:602:69.25:69.25:0.00:1.00:1.00:0.00:60:51.2:0:0:75:71:34:NM_001081976.1(ADORA3) c.107+126G>A,NM_001081976.1(ADORA3) c.107+126G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 112106444 rs1591712 G A 128 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.1052,A/0.8948;Gene=TMIGD3/NM_001081976.2/1;CC=c.107+24C>T;VC=Intron;Gene=TMIGD3/NM_001302680.1/0;CC=c.107+24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:28:0:0:35:1113:127.99:82.48:45.51:1.00:1.00:1.00:60:39.3:0:0:44:107:26:NM_001081976.1(ADORA3) c.107+24C>T,NM_001081976.1(ADORA3) c.107+24C>T:0.91,0.91:0.894828,0.894828 1 112106575 . T . . NT END=112233982;NT GT ./. 1 112190827 rs71099923 AT A 38 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=67;PC=0.001;Gene=RAP1A/NM_001010935.2/1;CC=c.-28+20655delT;VC=Intron;Gene=RAP1A/NM_002884.3/0;CC=c.-28+28284delT;VC=Intron;Gene=RAP1A/NM_001291896.1/0;CC=c.-28+27871delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:AT,A:12:11:0:14:1,11:31,372:0.00,37.63:0.00,25.47:0.00,12.16:0.00,1.00:0.00,1.00:0.00,1.00:60,70:32.0,16.0:0,1:0,0:13,31:138,118:0,10:-,NM_001010935.1(RAP1A) c.-28+20643delT:-,NOT_FOUND:-,NOT_FOUND 1 112191408 rs17665274 T C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8772,C/0.1228;PC=0.994;Gene=RAP1A/NM_001010935.2/1;CC=c.-28+21223T>C;VC=Intron;Gene=RAP1A/NM_002884.3/0;CC=c.-28+28852T>C;VC=Intron;Gene=RAP1A/NM_001291896.1/0;CC=c.-28+28439T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:8:7:0:0:5,3:158,106:15.89,0.00:9.35,0.00:6.53,0.00:0.97,0.00:1.00,0.00:0.98,0.00:60,60:34.2,0.0:0,0:0,0:112,46:39,103:24,31:NM_001010935.1(RAP1A) c.-28+21223T>C,-:0.13,-:NOT_FOUND,- 1 112234040 . G . . NT END=112237962;NT GT ./. 1 112234084 rs10489469 G T 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.8814,T/0.1186;PC=0.005;Gene=RAP1A/NM_001010935.2/1;CC=c.57+45G>T;VC=Intron;Gene=RAP1A/NM_002884.3/0;CC=c.57+45G>T;VC=Intron;Gene=RAP1A/NM_001291896.1/0;CC=c.57+45G>T;VC=Intron;DM=RAP1A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:19:6:0:0:9,10:302,308:0.00,29.84:0.00,6.40:0.00,23.44:0.00,1.00:0.00,0.98:0.00,1.00:60,60:2.6,35.4:0,0:0,0:101,123:48,25:36,17:-,NM_001010935.1(RAP1A) c.57+45G>T:-,0.12:-,0.117484 1 112237831 rs2143800 A ATAATAT 17 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=RAP1A/NM_001010935.2/1;CC=c.58-130_58-129insATATTA;VC=Intron;Gene=RAP1A/NM_002884.3/0;CC=c.58-130_58-129insATATTA;VC=Intron;Gene=RAP1A/NM_001291896.1/0;CC=c.58-130_58-129insATATTA;VC=Intron;DM=RAP1A/Ras;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,ATAATAT:11:11:6:0:5,6:164,177:0.00,17.27:0.00,17.27:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,15.7:0,0:0,0:36,52:115,98:34,33:-,NM_001010935.1(RAP1A) c.58-132_58-131insTAATAT:-,NOT_FOUND:-,NOT_FOUND 1 112238032 . G . . NT END=112240062;NT GT ./. 1 112240038 rs536081217 CT C 11 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=6;PC=0.002;Gene=RAP1A/NM_001010935.2/1;CC=c.127-11delT;VC=Intron;Gene=RAP1A/NM_002884.3/0;CC=c.127-11delT;VC=Intron;Gene=RAP1A/NM_001291896.1/0;CC=c.127-11delT;VC=Intron;DM=RAP1A/Ras;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:CT,C:15:13:0:6:11,4:358,191:0.00,10.71:0.00,8.15:0.00,2.57:0.00,0.74:0.00,0.94:0.00,0.85:60,60:10.6,39.2:0,2:0,0:69,37:74,114:49,9:-,NM_001010935.1(RAP1A) c.127-24delT:-,NOT_FOUND:-,NOT_FOUND 1 112240120 . G . . NT END=112245957;NT GT ./. 1 112246099 . G . . NT END=112246964;NT GT ./. 1 112246770 rs201178379 AT A 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AT/0.6072,A/0.3928;NP=22;Gene=RAP1A/NM_001010935.2/1;CC=c.325-179delT;VC=Intron;Gene=RAP1A/NM_002884.3/0;CC=c.325-179delT;VC=Intron;Gene=RAP1A/NM_001291896.1/0;CC=c.325-179delT;VC=Intron;DM=RAP1A/Ras;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:AT,I,A:8:8:1:3:4,1,3:113,33,100:0.00,2.64,9.34:0.00,2.64,9.34:0.00,0.00,0.00:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.00:60,60,60:63.5,0.0,77.7:0,0,0:0,0,0:66,33,33:52,116,114:22,0,2:-,NM_001010935.1(RAP1A) c.325-194delT:-,NOT_FOUND:-,NOT_FOUND 1 112247109 . G . . NT END=112249284;NT GT ./. 1 112249400 . g . . NT END=112251770;NT GT ./. 1 112251858 . G . . NT END=112269589;NT GT ./. 1 112269872 rs197434 G A 920 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=248;DB;DBA=NA;PAF=G/0.1394,A/0.8606,C/.;PC=0.996;Gene=FAM212B/NM_019099.4/1;CC=c.612C>T;ProtCh=p.F204=;VC=Silent;Gene=FAM212B/NM_198926.2/0;CC=c.567C>T;ProtCh=p.F189=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:248:181:0:0:246,1,1:8043,8,6:919.63,0.02,0.00:506.49,0.02,0.00:413.14,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.5,161.0,61.0:0,0,0:0,0,0:73,129,133:70,19,18:38,0,0:NM_019099.4(FAM212B) c.612C>T (p.(=)),NM_019099.4(FAM212B) c.612C>T (p.(=)):0.85,0.85:0.85745,0.85745 1 112270427 . C . . NT END=112281807;NT GT ./. 1 112270648 rs79539488 T TC 8 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7228,TC/0.2772;DB;DBA=NA;PAF=T/0.7228,TC/0.2772;NP=34;PC=0.001;Gene=FAM212B/NM_019099.4/1;CC=c.58-223dupG;VC=Intron;Gene=FAM212B/NM_198926.2/0;CC=c.13-223dupG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:T,TC:9:0:3:0:6,3:193,86:0.00,7.54:0.00,0.00:0.00,7.54:0.00,0.64:0.00,0.00:0.00,0.64:60,60:11.0,11.0:0,0:0,0:111,43:36,108:35,18:-,NM_019099.4(FAM212B) c.58-223_58-222insG:-,0.23:-,NOT_FOUND 1 112270692 rs12122417 C CACAT 13 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7632,T/0.2368;Gene=FAM212B/NM_019099.4/1;CC=c.58-267_58-266insATGT;VC=Intron;Gene=FAM212B/NM_198926.2/0;CC=c.13-267_13-266insATGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,CACAT:7:1:4:0:3,4:100,128:0.00,12.63:0.00,1.67:0.00,10.96:0.00,0.90:0.00,0.71:0.00,0.90:60,60:18.7,8.2:0,0:0,0:106,79:45,72:14,22:-,NM_019099.4(FAM212B) c.58-267_58-266insATGT:-,NOT_FOUND:-,NOT_FOUND 1 112275190 rs111707775 T TACAC 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=13;NP=5;NP=50;NP=9;Gene=FAM212B/NM_019099.4/1;CC=c.58-4765_58-4764insGTGT;VC=Intron;Gene=FAM212B/NM_198926.2/0;CC=c.13-4765_13-4764insGTGT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:T,TACAC:6:3:4:0:3,3:97,118:0.00,8.30:0.00,6.22:0.00,2.08:0.00,0.69:0.00,0.83:0.00,0.89:60,60:11.3,6.3:0,1:0,0:121,75:28,75:3,9:-,NM_019099.4(FAM212B) c.58-4765_58-4764insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 112282047 . G . . NT END=112298322;NT GT ./. 1 112298166 rs197391 G C 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.8371,C/0.1629;Gene=FAM212B/NM_198926.2/0;CC=c.12+157C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:31:31:0:0:17,14:585,409:57.38,0.00:55.82,0.00:1.56,0.00:1.00,0.00:1.00,0.00:0.70,0.00:60,60:46.1,21.5:0,0:0,0:53,61:98,89:35,41:NM_007204.4(DDX20) c.-357-u24G>C,-:0.15,-:NOT_FOUND,- 1 112298335 . C . . NT END=112298546;NT GT ./. 1 112298582 rs197392 A G 260 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=217;DB;DBA=NA;PAF=A/0.7576,G/0.2424;Gene=DDX20/NM_007204.4/1;CC=c.36A>G;ProtCh=p.A12=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:217:179:0:0:125,92:4185,2802:0.00,259.78:0.00,173.82:0.00,85.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,37.0:0,0:0,0:63,50:85,98:35,26:-,NM_007204.4(DDX20) c.36A>G (p.(=)):-,0.23:-,0.273553 1 112298829 rs197393 T C 272 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=178;DB;DBA=NA;PAF=T/0.5278,C/0.4722;PC=1.000;Gene=DDX20/NM_007204.4/1;CC=c.283T>C;ProtCh=p.L95=;VC=Silent;DM=DDX20/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:178:97:0:0:87,91:2836,2787:271.53,0.00:106.73,0.00:164.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,9.7:0,0:0,0:99,103:48,42:24,28:NM_007204.4(DDX20) c.283T>C (p.(=)),-:0.47,-:0.359007,- 1 112298848 . G . . NT END=112299267;NT GT ./. 1 112298880 . T G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;Gene=DDX20/NM_007204.4/1;CC=c.301+33T>G;VC=Intron;DM=DDX20/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,G,T:78:38:0:0:1,13,64:11,207,1524:-0.20,11.96,0.00:-0.15,3.57,0.00:-0.05,8.39,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:50.0,54.7,31.9:0,0,0:0,0,0:46,93,125:76,38,24:0,41,12:NM_007204.4(DDX20) c.301+33T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 112299363 . G . . NT END=112302021;NT GT ./. 1 112301777 rs197398 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8135,T/0.1865;PC=0.002;Gene=DDX20/NM_007204.4/1;CC=c.397-245C>T;VC=Intron;DM=DDX20/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:7:6:0:0:3,4:101,119:0.00,11.73:0.00,8.90:0.00,2.83:0.00,0.90:0.00,0.99:0.00,0.71:60,60:0.0,52.5:0,0:0,0:9,37:141,113:2,28:-,NM_007204.4(DDX20) c.397-245C>T:-,0.17:-,NOT_FOUND 1 112302191 . G . . NT END=112303095;NT GT ./. 1 112302412 rs197399 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1342,C/0.8658;Gene=DDX20/NM_007204.4/1;CC=c.565+222T>C;VC=Intron;DM=DDX20/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:306:35.68:0.00:35.68:1.00:0.00:1.00:60:42.9:0:0:120:31:23:NM_007204.4(DDX20) c.565+222T>C,NM_007204.4(DDX20) c.565+222T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 112303211 . G . . NT END=112303327;NT GT ./. 1 112303260 rs169093 A G 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.8698,G/0.1302;Gene=DDX20/NM_007204.4/1;CC=c.680+50A>G;VC=Intron;DM=DDX20/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:34:0:0:24,30:776,995:0.00,97.67:0.00,54.15:0.00,43.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,39.5:0,0:0,0:70,47:81,103:46,32:-,NM_007204.4(DDX20) c.680+50A>G:-,0.13:-,0.170976 1 112303471 . G . . NT END=112303608;NT GT ./. 1 112303748 . G . . NT END=112303847;NT GT ./. 1 112303907 . G . . NT END=112304876;NT GT ./. 1 112304721 rs41282538 G C 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9291,C/0.07089;PC=0.111;Gene=DDX20/NM_007204.4/1;CC=c.1022-156G>C;VC=Intron;DM=DDX20/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,G:13:13:0:0:9,4:260,109:26.77,0.00:26.77,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:60.6,0.0:0,0:0,0:48,14:102,136:28,7:NM_007204.4(DDX20) c.1022-156G>C,-:0.07,-:NOT_FOUND,- 1 112304960 . G . . NT END=112305298;NT GT ./. 1 112305228 rs519155 A G 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.8339,C/.,G/0.1661,T/.;Gene=DDX20/NM_007204.4/1;CC=c.1105-71A>G;VC=Intron;DM=DDX20/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:23:0:0:9,15:291,437:0.00,43.87:0.00,44.29:0.00,-0.43:0.00,1.00:0.00,1.00:0.00,0.75:60,60:2.3,47.9:0,0:0,0:75,49:76,101:54,37:-,NM_007204.4(DDX20) c.1105-71A>G:-,0.16:-,NOT_FOUND 1 112305405 . G . . NT END=112305527;NT GT ./. 1 112305406 . TA T 16 idl,rn VT=DEL;SST=Single;DP=43;NP=20;PC=1.000;Gene=DDX20/NM_007204.4/1;CC=c.1210+18delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:TA,I,T:39:25:5:11:27,5,7:781,156,315:0.00,11.87,15.95:0.00,9.90,4.74:0.00,1.97,11.21:0.00,0.00,0.94:0.00,0.00,0.96:0.00,0.00,0.96:60,60,60:9.8,16.4,8.3:0,0,4:0,0,0:115,71,66:33,80,84:30,6,37:-,NM_007204.4(DDX20) c.1210+3delA:-,NOT_FOUND:-,NOT_FOUND 1 112305630 . G . . NT END=112308358;NT GT ./. 1 112308178 rs197411 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8339,A/0.1661;Gene=DDX20/NM_007204.4/1;CC=c.1313-181G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:8:8:0:0:5,3:154,103:15.49,0.00:15.49,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:30.8,7.3:0,0:0,0:5,9:146,140:4,1:NM_007204.4(DDX20) c.1313-181G>A,-:0.16,-:NOT_FOUND,- 1 112308953 rs197412 T C 130 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.5256,C/0.4744;PC=0.907;Gene=DDX20/NM_007204.4/1;CC=c.1907T>C;ProtCh=p.I636T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:107:72:0:0:44,1,62:1407,10,1886:130.44,-0.15,0.00:68.83,-0.13,0.00:61.62,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.0,81.0,5.4:0,0,0:0,0,0:69,82,86:80,69,63:38,0,36:NM_007204.4(DDX20) c.1907T>C (p.Ile636Thr),-:0.48,-:0.484007,- 1 112308972 rs197413 G A 137 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.5202,A/0.4798;Gene=DDX20/NM_007204.4/1;CC=c.1926G>A;ProtCh=p.V642=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:112:76:0:0:46,1,65:1477,11,2142:136.96,-0.14,0.00:75.44,-0.14,0.00:61.51,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:71.3,50.0,7.2:0,0,0:0,0,0:51,134,75:97,16,75:36,0,42:NM_007204.4(DDX20) c.1926G>A (p.(=)),-:0.48,-:0.487544,- 1 112309123 rs197414 C A 206 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.8341,A/0.1659;PC=0.005;Gene=DDX20/NM_007204.4/1;CC=c.2077C>A;ProtCh=p.R693S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:119:81:0:0:63,55,1:2114,1752,8:206.07,0.00,-0.14:121.55,0.00,-0.05:84.51,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.1,4.1,19.0:0,0,0:0,0,0:66,78,51:82,64,100:38,42,0:NM_007204.4(DDX20) c.2077C>A (p.Arg693Ser),-:0.15,-:0.209628,- 1 112309331 rs85276 T C 188 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.8341,C/0.1659;PC=0.002;Gene=DDX20/NM_007204.4/1;CC=c.2285T>C;ProtCh=p.I762T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:124:60:0:0:59,65:1970,2014:187.89,0.00:64.55,0.00:123.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,12.3:0,0:0,0:63,76:82,71:29,36:NM_007204.4(DDX20) c.2285T>C (p.Ile762Thr),-:0.15,-:0.209672,- 1 112309522 . T . . NT END=112318698;NT GT ./. 1 112318901 . C . . NT END=112319647;NT GT ./. 1 112319896 . C . . NT END=112321057;NT GT ./. 1 112321032 rs640029 T A 82 nt VT=SNV;PN=A;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.8073,A/0.1927;PC=0.996;Gene=KCND3/NM_004980.4/1;CC=c.1518+26A>T;VC=Intron;Gene=KCND3/NM_172198.2/0;CC=c.1462-1137A>T;VC=Intron;DM=KCND3/DUF3399 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:47:39:0:0:26,21:840,657:82.38,0.00:63.64,0.00:18.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,5.0:0,0:0,0:53,32:85,116:21,22:NM_004980.4(KCND3) c.1518+26A>T,-:0.19,-:0.246194,- 1 112321115 . C . . NT END=112322846;NT GT ./. 1 112321322 rs2813867 T C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.009185,C/0.9908;Gene=KCND3/NM_004980.4/1;CC=c.1462-208A>G;VC=Intron;Gene=KCND3/NM_172198.2/0;CC=c.1462-1427A>G;VC=Intron;DM=KCND3/DUF3399 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:149:17.25:0.00:17.25:1.00:0.00:1.00:60:34.2:0:0:87:64:49:NM_004980.4(KCND3) c.1462-208A>G,NM_004980.4(KCND3) c.1462-208A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 112322937 . C . . NT END=112323311;NT GT ./. 1 112323414 . C . . NT END=112329565;NT GT ./. 1 112326725 . TCACA T 12 rn VT=DEL;SST=Single;DP=9;NP=7;Gene=KCND3/NM_004980.4/1;CC=c.1269+2837_1269+2840delTGTG;VC=Intron;Gene=KCND3/NM_172198.2/0;CC=c.1269+2837_1269+2840delTGTG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:TCACA,I,T:9:8:2:4:3,2,4:101,54,124:0.00,4.72,12.13:0.00,2.25,6.21:0.00,2.47,5.92:0.00,0.00,0.85:0.00,0.00,0.98:0.00,0.00,0.96:60,60,60:11.3,24.0,16.8:0,0,0:0,0,0:108,53,51:42,95,81:24,2,15:-,NM_004980.4(KCND3) c.1269+2837_1269+2840delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 112326767 rs1538390 C T 6 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.847,T/0.153;Gene=KCND3/NM_004980.4/1;CC=c.1269+2799G>A;VC=Intron;Gene=KCND3/NM_172198.2/0;CC=c.1269+2799G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,T:7:5:0:0:4,3:132,71:0.00,6.44:0.00,1.98:0.00,4.45:0.00,0.69:0.00,0.93:0.00,0.69:60,60:13.8,27.3:0,0:0,0:78,95:54,56:22,5:-,NM_004980.4(KCND3) c.1269+2799G>A:-,0.16:-,NOT_FOUND 1 112329729 . C . . NT END=112524242;NT GT ./. 1 112409248 rs1677533 C A 14 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5998,A/0.4002,G/.;PC=0.638;Gene=KCND3/NM_004980.4/1;CC=c.1107-79520G>T;VC=Intron;Gene=KCND3/NM_172198.2/0;CC=c.1107-79520G>T;VC=Intron;DM=KCND3/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,C:5:2:0:0:4,1:135,32:14.32,0.00:1.14,0.00:13.18,0.00:0.96,0.00:0.97,0.00:1.00,0.00:60,60:52.5,12.0:0,0:0,0:85,63:64,71:21,0:NM_004980.4(KCND3) c.1107-79520G>T,-:0.41,-:NOT_FOUND,- 1 112525349 . G . . NT END=112533518;NT GT ./. 1 112533810 . G . . NT END=112539048;NT GT ./. 1 112539136 . C . . NT END=112958787;NT GT ./. 1 112828870 rs572710178 A ATG 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7656,ATG/0.2344,ATGTGTGTG/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=36;NP=67;NP=7;PC=0.010;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,ATG,D:7:4:3:1:3,3,1:99,97,21:0.00,9.30,1.54:0.00,2.82,-0.13:0.00,6.47,1.67:0.00,0.69,0.00:0.00,0.89,0.00:0.00,0.93,0.00:60,60,60:0.0,13.3,10.0:0,0,0:0,0,0:113,39,42:38,90,109:3,20,0:-,chr1 g.112828870_112828871insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 112958887 . G . . NT END=112991563;NT GT ./. 1 112958898 rs370406156 GA G 8 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=76;PC=0.003;Gene=CTTNBP2NL/NM_018704.2/1;CC=c.99+23delA;VC=Intron;DM=CTTNBP2NL/CortBP2;DM=CTTNBP2NL/CortBP2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,GA,I,G:29:15:1:4:1,23,1,4:8,711,33,111:-0.17,0.00,1.97,8.10:-0.14,0.00,-0.14,0.88:-0.03,0.00,2.10,7.22:0.00,0.00,0.00,0.65:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.93:60,60,60,60:32.0,13.7,10.0,26.2:0,0,0,0:0,0,0,0:67,125,102,94:83,25,45,57:0,20,0,21:-,NM_018704.2(CTTNBP2NL) c.99+13delA:-,NOT_FOUND:-,NOT_FOUND 1 112959033 rs72697084 T C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9874,C/0.01258;PC=0.005;Gene=CTTNBP2NL/NM_018704.2/1;CC=c.99+147T>C;VC=Intron;DM=CTTNBP2NL/CortBP2;DM=CTTNBP2NL/CortBP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:7:0:0:0:3,4:94,134:8.75,0.00:0.00,0.00:8.75,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:43.0,2.5:0,0:0,0:123,117:28,33:3,10:NM_018704.2(CTTNBP2NL) c.99+147T>C,-:0.01,-:NOT_FOUND,- 1 112968619 . GTGTGTGTC G 13 nt VT=DEL;SST=Single;DP=5;NP=25;PC=0.002;Gene=CTTNBP2NL/NM_018704.2/1;CC=c.99+9737_99+9744delGTGTCTGT;VC=Intron;DM=CTTNBP2NL/CortBP2;DM=CTTNBP2NL/CortBP2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:GTGTGTGTC,G:5:3:0:6:1,4:29,126:0.00,13.42:0.00,4.92:0.00,8.50:0.00,0.96:0.00,0.99:0.00,1.00:60,60:40.0,16.5:0,0:0,0:149,67:2,83:0,12:-,NM_018704.2(CTTNBP2NL) c.99+9734_99+9741delTGTGTGTC:-,NOT_FOUND:-,NOT_FOUND 1 112991698 rs2256883 T C 225 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.4746,C/0.5254;PC=0.998;Gene=CTTNBP2NL/NM_018704.2/1;CC=c.234T>C;ProtCh=p.N78=;VC=Silent;DM=CTTNBP2NL/CortBP2;DM=CTTNBP2NL/CortBP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:A,C:62:49:0:0:1,61:12,1966:0.23,225.12:0.00,148.47:0.23,76.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.0,40.9:0,0:0,0:3,77:148,74:0,50:NM_018704.2(CTTNBP2NL) c.234T>C (p.(=)),NM_018704.2(CTTNBP2NL) c.234T>C (p.(=)):0.52,0.52:0.559127,0.559127 1 112991795 . G . . NT END=112997070;NT GT ./. 1 112997179 . G . . NT END=112998552;NT GT ./. 1 112999227 rs1175641 G A 485 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=G/0.0603,A/0.9397;PC=0.001;Gene=CTTNBP2NL/NM_018704.2/1;CC=c.1113G>A;ProtCh=p.Q371=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:130:79:0:0:130:4234:485.29:219.71:265.57:1.00:1.00:1.00:60:43.0:0:0:83:66:39:NM_018704.2(CTTNBP2NL) c.1113G>A (p.(=)),NM_018704.2(CTTNBP2NL) c.1113G>A (p.(=)):0.93,0.93:0.883054,0.883054 1 113000035 . T . . NT END=113033632;NT GT ./. 1 113025827 rs201190760 CACACACACACACACACAT C 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=129;PC=0.250;Gene=WNT2B/NM_001291880.1/0;CC=c.-95+15616_-95+15633delCACACACACACACACATA;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.55-7804_55-7787delCACACACACACACACATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CACACACACACACACACAT,C:5:3:0:3:2,3:62,95:0.00,9.47:0.00,3.26:0.00,6.21:0.00,0.78:0.00,0.94:0.00,0.78:60,60:16.0,4.3:2,0:0,0:112,55:38,96:2,16:-,NM_004185.3(WNT2B) c.55-7805_55-7788delACACACACACACACACAT:-,NOT_FOUND:-,NOT_FOUND 1 113028740 rs1777607 G C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6542,C/0.3458;PC=0.062;Gene=WNT2B/NM_001291880.1/0;CC=c.-95+18527G>C;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.55-4893G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:119:13.79:5.97:7.82:1.00:1.00:1.00:60:38.0:0:0:73:41:15:NM_004185.3(WNT2B) c.55-4893G>C,NM_004185.3(WNT2B) c.55-4893G>C:0.34,0.34:NOT_FOUND,NOT_FOUND 1 113033459 rs61820474 T C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.9285,C/0.07149;PC=0.115;Gene=WNT2B/NM_001291880.1/0;CC=c.-95+23246T>C;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.55-174T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:28:0:0:9,19:305,548:27.17,0.00:27.17,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:43.8,16.9:0,0:0,0:22,50:128,100:15,37:NM_004185.3(WNT2B) c.55-174T>C,-:0.06,-:NOT_FOUND,- 1 113033704 . G . . NT END=113051369;NT GT ./. 1 113051074 rs12136566 A G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7406,G/0.2594;PC=0.001;Gene=WNT2B/NM_001291880.1/0;CC=c.-94-6422A>G;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.126-6422A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:6:6:0:0:3,3:86,106:0.00,10.23:0.00,10.23:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:48.3,45.3:0,0:0,0:130,60:21,90:2,38:-,NM_024494.2(WNT2B) c.-515-u296A>G:-,0.3:-,NOT_FOUND 1 113051730 rs11102484 C G 266 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=193;DB;DBA=NA;PAF=C/0.7406,G/0.2594;Gene=WNT2B/NM_001291880.1/0;CC=c.-94-5766C>G;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.126-5766C>G;VC=Intron;Gene=WNT2B/NM_024494.2/0;CC=c.-155C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:193:124:0:0:104,87,2:3327,2821,32:0.00,266.42,0.40:0.00,144.70,0.64:0.00,121.72,-0.23:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.1,48.2,93.5:0,0,0:0,0,0:93,67,113:56,84,25:39,45,7:-,NM_024494.2(WNT2B) c.-155C>G:-,0.3:-,NOT_FOUND 1 113052067 . G . . NT END=113057495;NT GT ./. 1 113052155 rs3790605 C G 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.7392,G/0.2608;PC=0.001;Gene=WNT2B/NM_001291880.1/0;CC=c.-94-5341C>G;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.126-5341C>G;VC=Intron;Gene=WNT2B/NM_024494.2/0;CC=c.182+89C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:44:5:0:0:22,22:744,715:0.00,68.75:0.00,3.02:0.00,65.72:0.00,1.00:0.00,0.96:0.00,1.00:60,60:5.5,57.7:0,0:0,0:107,109:41,42:29,21:-,NM_024494.2(WNT2B) c.182+89C>G:-,0.3:-,NOT_FOUND 1 113052186 rs3790606 G C 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.7392,C/0.2608;PC=0.042;Gene=WNT2B/NM_001291880.1/0;CC=c.-94-5310G>C;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.126-5310G>C;VC=Intron;Gene=WNT2B/NM_024494.2/0;CC=c.182+120G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:0:0:0:16,16:430,467:40.92,0.00:0.00,0.00:40.92,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:68.3,13.5:0,0:0,0:86,94:65,55:34,29:NM_024494.2(WNT2B) c.182+120G>C,-:0.3,-:NOT_FOUND,- 1 113057717 . G . . NT END=113058761;NT GT ./. 1 113059040 . G . . NT END=113059742;NT GT ./. 1 113059220 rs351372 T A 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.5136,A/0.4864;PC=0.001;Gene=WNT2B/NM_001291880.1/0;CC=c.405+181T>A;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.624+181T>A;VC=Intron;Gene=WNT2B/NM_024494.2/0;CC=c.681+181T>A;VC=Intron;DM=WNT2B/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:0:0:0:13,11:375,336:36.47,0.00:0.00,0.00:36.47,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:55.3,12.0:0,0:0,0:90,110:61,41:23,27:NM_024494.2(WNT2B) c.681+181T>A,-:0.45,-:NOT_FOUND,- 1 113060008 . G . . NT END=113062901;NT GT ./. 1 113062694 rs71584742 ATGT A 27 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=ATGT/0.7784,A/0.2216;DB;DBA=NA;PAF=ATGT/0.7784,A/0.2216;NP=29;PC=0.009;Gene=WNT2B/NM_001291880.1/0;CC=c.671-206_671-204delGTT;VC=Intron;Gene=WNT2B/NM_004185.4/1;CC=c.890-206_890-204delGTT;VC=Intron;Gene=WNT2B/NM_024494.2/0;CC=c.947-206_947-204delGTT;VC=Intron;DM=WNT2B/wnt;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:ATGT,A:14:14:0:9:5,9:160,268:0.00,27.12:0.00,27.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:12.2,12.1:0,0:0,0:21,54:130,97:2,36:-,NM_024494.2(WNT2B) c.947-207_947-205delTGT:-,0.24:-,NOT_FOUND 1 113063125 rs910697 A G 148 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.5166,G/0.4834,T/.;PC=1.000;Gene=WNT2B/NM_001291880.1/0;CC=c.894A>G;ProtCh=p.Q298=;VC=Silent;Gene=WNT2B/NM_004185.4/1;CC=c.1113A>G;ProtCh=p.Q371=;VC=Silent;Gene=WNT2B/NM_024494.2/0;CC=c.1170A>G;ProtCh=p.Q390=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:108:41:0:0:60,48:1846,1568:0.00,147.52:0.00,35.68:0.00,111.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,39.6:0,0:0,0:109,90:39,55:22,36:-,NM_024494.2(WNT2B) c.1170A>G (p.(=)):-,0.52:-,0.47578 1 113063132 . A . . NT END=113068634;NT GT ./. 1 113063392 . G A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;PC=0.999;Gene=WNT2B/NM_001291880.1/0;CC=c.*261G>A;VC=3UTR;Gene=WNT2B/NM_004185.4/1;CC=c.*261G>A;VC=3UTR;Gene=WNT2B/NM_024494.2/0;CC=c.*261G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:5:0:0:0:3,2:100,61:9.97,0.00:0.00,0.00:9.97,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:33.3,12.0:0,0:0,0:142,80:9,70:8,43:NM_024494.2(WNT2B) c.*261G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 113068577 rs35147679 C T 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.773,T/0.227;Gene=ST7L/NM_001308264.1/0;CC=c.*58G>A;VC=3UTR;Gene=ST7L/NM_017744.4/1;CC=c.*58G>A;VC=3UTR;Gene=ST7L/NM_138727.3/0;CC=c.*58G>A;VC=3UTR;Gene=ST7L/NM_138728.2/0;CC=c.*58G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:8,15:262,441:0.00,44.76:0.00,44.76:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.5,36.5:0,0:0,0:39,58:111,92:20,16:-,NM_017744.4(ST7L) c.*58G>A:-,0.25:-,NOT_FOUND 1 113068734 . C . . NT END=113082311;NT GT ./. 1 113082153 rs10857961 C A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.773,A/0.227;PC=0.020;Gene=ST7L/NM_001308264.1/0;CC=c.1080+2420G>T;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.1629+2420G>T;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.1578+2420G>T;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.1536+2420G>T;VC=Intron;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:20:20:0:0:8,12:228,376:20.74,0.00:20.74,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:53.4,1.1:0,0:0,0:68,16:83,134:30,14:NM_017744.4(ST7L) c.1629+2420G>T,-:0.25,-:NOT_FOUND,- 1 113082277 . CA C 18 idl,rn VT=DEL;SST=Single;DP=43;PC=0.048;Gene=ST7L/NM_001308264.1/0;CC=c.1080+2295delT;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.1629+2295delT;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.1578+2295delT;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.1536+2295delT;VC=Intron;DM=ST7L/ST7;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,CA,I,C:42:42:3:8:1,31,3,7:26,1049,97,259:1.14,0.00,6.69,18.13:-0.28,0.00,6.79,18.36:1.42,0.00,-0.09,-0.23:0.00,0.00,0.00,0.94:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.67:60,60,60,60:26.0,9.1,9.0,8.1:0,0,0,1:0,0,0,0:36,65,92,32:88,86,59,118:0,48,20,17:-,NM_017744.4(ST7L) c.1629+2295delT:-,NOT_FOUND:-,NOT_FOUND 1 113082298 rs371819785 AAAAG A 96 nt VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=AAAAG/0.7598,A/0.2402;DB;DBA=NA;PAF=AAAAG/0.7598,A/0.2402;NP=114;PC=0.064;Gene=ST7L/NM_001308264.1/0;CC=c.1080+2271_1080+2274delCTTT;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.1629+2271_1629+2274delCTTT;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.1578+2271_1578+2274delCTTT;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.1536+2271_1536+2274delCTTT;VC=Intron;DM=ST7L/ST7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAAG,A:72:62:0:32:40,32:1240,1020:0.00,95.80:0.00,74.63:0.00,21.17:0.00,1.00:0.00,1.00:0.00,1.00:60,70:13.0,9.7:2,0:0,0:33,29:108,114:26,16:-,NM_017744.4(ST7L) c.1629+2271_1629+2274delCTTT:-,0.25:-,NOT_FOUND 1 113082974 rs10776755 G C 359 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.3504,C/0.6496;PC=0.868;Gene=ST7L/NM_001308264.1/0;CC=c.1080+1599C>G;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.1629+1599C>G;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.1578+1599C>G;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.1536+1599C>G;VC=Intron;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:99:48:0:0:98,1:3145,35:358.66,0.00:149.98,0.00:208.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,0.0:0,0:0,0:81,127:67,24:32,0:NM_017744.4(ST7L) c.1629+1599C>G,NM_017744.4(ST7L) c.1629+1599C>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 113083439 rs10745330 C T 127 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.5102,T/0.4898;PC=0.010;Gene=ST7L/NM_001308264.1/0;CC=c.1080+1134G>A;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.1629+1134G>A;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.1578+1134G>A;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.1536+1134G>A;VC=Intron;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:35:0:0:28,40:934,1275:0.00,126.55:0.00,49.31:0.00,77.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,42.0:0,0:0,0:91,93:59,58:23,32:-,NM_017744.4(ST7L) c.1629+1134G>A:-,0.53:-,NOT_FOUND 1 113083495 . C . . NT END=113084411;NT GT ./. 1 113084713 . C . . NT END=113093222;NT GT ./. 1 113093316 . C . . NT END=113098489;NT GT ./. 1 113098641 . C . . NT END=113119607;NT GT ./. 1 113119406 rs74111163 A T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9423,T/0.05771;Gene=ST7L/NM_001308264.1/0;CC=c.696+202T>A;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.1245+202T>A;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.1194+202T>A;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.1245+202T>A;VC=Intron;Gene=ST7L/NM_138729.3/0;CC=c.1245+202T>A;VC=Intron;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,T:9:9:0:0:5,4:168,136:0.00,12.82:0.00,12.82:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:38.6,34.0:0,0:0,0:42,43:109,106:6,16:-,NM_017744.4(ST7L) c.1245+202T>A:-,0.07:-,NOT_FOUND 1 113119442 rs11102498 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7596,C/0.2404;PC=0.242;Gene=ST7L/NM_001308264.1/0;CC=c.696+166A>G;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.1245+166A>G;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.1194+166A>G;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.1245+166A>G;VC=Intron;Gene=ST7L/NM_138729.3/0;CC=c.1245+166A>G;VC=Intron;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:13:0:0:7,6:240,203:23.44,0.00:23.44,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:37.3,22.7:0,0:0,0:54,63:97,88:24,29:NM_017744.4(ST7L) c.1245+166A>G,-:0.26,-:NOT_FOUND,- 1 113119711 . C . . NT END=113120966;NT GT ./. 1 113121040 . C . . NT END=113124613;NT GT ./. 1 113124729 . C . . NT END=113124996;NT GT ./. 1 113125095 . C . . NT END=113126593;NT GT ./. 1 113126749 . C . . NT END=113134146;NT GT ./. 1 113134226 . C . . NT END=113140592;NT GT ./. 1 113140583 rs12049572 T C 70 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.7728,C/0.2272;Gene=ST7L/NM_001308264.1/0;CC=c.73+10A>G;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.622+10A>G;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.571+10A>G;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.622+10A>G;VC=Intron;Gene=ST7L/NM_138729.3/0;CC=c.622+10A>G;VC=Intron;DM=ST7L/ST7;DM=ST7L/ST7;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:40:0:0:22,23:727,752:69.65,0.00:56.16,0.00:13.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,5.5:0,0:0,0:51,48:100,103:20,40:NM_017744.4(ST7L) c.622+10A>G,-:0.25,-:0.163079,- 1 113140709 . C . . NT END=113143415;NT GT ./. 1 113140926 rs4839254 C T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4409,T/0.5591;PC=0.006;Gene=ST7L/NM_001308264.1/0;CC=c.-43-218G>A;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.507-218G>A;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.456-218G>A;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.507-218G>A;VC=Intron;Gene=ST7L/NM_138729.3/0;CC=c.507-218G>A;VC=Intron;DM=ST7L/ST7;DM=ST7L/ST7;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:176:20.42:0.00:20.42:1.00:0.00:1.00:60:31.7:0:0:97:54:45:NM_017744.4(ST7L) c.507-218G>A,NM_017744.4(ST7L) c.507-218G>A:0.61,0.61:NOT_FOUND,NOT_FOUND 1 113143471 . C . . NT END=113153462;NT GT ./. 1 113153626 . C . . NT END=113159434;NT GT ./. 1 113159518 . C . . NT END=113160868;NT GT ./. 1 113159730 rs7415988 G T 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1256,T/0.8744;PC=0.043;Gene=ST7L/NM_001308264.1/0;CC=c.-289-213C>A;VC=Intron;Gene=ST7L/NM_017744.4/1;CC=c.206-213C>A;VC=Intron;Gene=ST7L/NM_138727.3/0;CC=c.206-264C>A;VC=Intron;Gene=ST7L/NM_138728.2/0;CC=c.206-213C>A;VC=Intron;Gene=ST7L/NM_138729.3/0;CC=c.206-213C>A;VC=Intron;DM=ST7L/ST7;DM=ST7L/ST7;DM=ST7L/ST7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:203:23.16:0.00:23.16:1.00:0.00:1.00:60:36.7:0:0:81:68:27:NM_017744.4(ST7L) c.206-213C>A,NM_017744.4(ST7L) c.206-213C>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 113160902 . A . . NT END=113161405;NT GT ./. 1 113161736 . C . . NT END=113162466;NT GT ./. 1 113162506 . G . . NT END=113189831;NT GT ./. 1 113189896 . G . . NT END=113192039;NT GT ./. 1 113192092 . G . . NT END=113196219;NT GT ./. 1 113196196 rs66520135 TA T 10 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=217;PC=0.116;Gene=CAPZA1/NM_006135.2/1;CC=c.156-18delA;VC=Intron;DM=CAPZA1/F-actin_cap_A;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:TA,T:13:10:0:7:9,4:276,120:0.00,10.43:0.00,4.75:0.00,5.68:0.00,0.79:0.00,0.95:0.00,0.92:60,60:47.9,41.5:0,0:0,0:55,41:81,109:18,15:-,NM_006135.2(CAPZA1) c.156-23delA:-,NOT_FOUND:-,NOT_FOUND 1 113196197 rs2932528 A T 29 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2873,T/0.7127;NP=375;PC=0.116;Gene=CAPZA1/NM_006135.2/1;CC=c.156-23A>T;VC=Intron;DM=CAPZA1/F-actin_cap_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,T:10:8:0:7:1,9:25,264:0.00,29.19:0.00,18.62:0.00,10.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,45.9:0,0:0,0:130,38:20,110:0,18:-,NM_006135.2(CAPZA1) c.156-23A>T:-,NOT_FOUND:-,0.414954 1 113196284 . G . . NT END=113197086;NT GT ./. 1 113196896 rs3790598 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9109,A/0.08906,T/.;Gene=CAPZA1/NM_006135.2/1;CC=c.220-191G>A;VC=Intron;DM=CAPZA1/F-actin_cap_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:7:7:0:0:3,4:100,140:9.36,0.00:9.36,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:37.7,0.0:0,0:0,0:95,35:56,116:8,12:NM_006135.2(CAPZA1) c.220-191G>A,-:0.1,-:NOT_FOUND,- 1 113197203 rs3790599 A G 48 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.9303,G/0.06969;PC=0.002;Gene=CAPZA1/NM_006135.2/1;CC=c.336A>G;ProtCh=p.E112=;VC=Silent;DM=CAPZA1/F-actin_cap_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:35:0:0:37,17:1236,544:0.00,47.90:0.00,23.35:0.00,24.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,41.9:0,0:0,0:70,71:73,69:29,37:-,NM_006135.2(CAPZA1) c.336A>G (p.(=)):-,0.08:-,0.057358 1 113197294 . G . . NT END=113201643;NT GT ./. 1 113201412 rs2932535 G C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1697,C/0.8303;Gene=CAPZA1/NM_006135.2/1;CC=c.427-232G>C;VC=Intron;DM=CAPZA1/F-actin_cap_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:207:23.56:23.56:0.00:1.00:1.00:0.00:60:34.5:0:0:39:111:13:NM_006135.2(CAPZA1) c.427-232G>C,NM_006135.2(CAPZA1) c.427-232G>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 113201724 . G . . NT END=113202322;NT GT ./. 1 113202203 rs200009640 TCTCTC T 27 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=130;Gene=CAPZA1/NM_006135.2/1;CC=c.507-119_507-115delCTCTC;VC=Intron;DM=CAPZA1/F-actin_cap_A;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCTCTC,T:17:17:0:9:8,9:240,277:0.00,26.90:0.00,26.90:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:53.1,45.8:2,0:0,0:70,50:80,101:37,31:-,NM_006135.2(CAPZA1) c.507-119_507-115delCTCTC:-,NOT_FOUND:-,NOT_FOUND 1 113202208 rs3013438 C T 26 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2857,T/0.7143;Gene=CAPZA1/NM_006135.2/1;CC=c.507-115C>T;VC=Intron;DM=CAPZA1/F-actin_cap_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:C,T:9:9:0:9:1,8:34,237:0.00,26.14:0.00,26.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.0,58.5:1,1:0,0:25,75:126,75:0,37:-,NM_006135.2(CAPZA1) c.507-115C>T:-,NOT_FOUND:-,NOT_FOUND 1 113202402 . G . . NT END=113209695;NT GT ./. 1 113202417 rs2932536 G A 68 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.478,A/0.522;PC=0.006;Gene=CAPZA1/NM_006135.2/1;CC=c.585+16G>A;VC=Intron;DM=CAPZA1/F-actin_cap_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:17:0:0:21,19:696,656:67.60,0.00:19.94,0.00:47.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,5.7:0,0:0,0:114,93:30,52:18,38:NM_006135.2(CAPZA1) c.585+16G>A,-:0.47,-:0.525296,- 1 113202571 rs12120956 G A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7644,A/0.2356;PC=0.644;Gene=CAPZA1/NM_006135.2/1;CC=c.585+170G>A;VC=Intron;DM=CAPZA1/F-actin_cap_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,G:11:0:0:0:6,5:199,168:19.47,0.00:0.00,0.00:19.47,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:33.2,9.8:0,0:0,0:99,117:51,33:19,12:NM_006135.2(CAPZA1) c.585+170G>A,-:0.27,-:NOT_FOUND,- 1 113209768 . G . . NT END=113212164;NT GT ./. 1 113212228 . G . . NT END=113212613;NT GT ./. 1 113212755 . A . . NT END=113217534;NT GT ./. 1 113217311 rs3748655 G C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9083,C/0.09165;PC=1.000;Gene=MOV10/NM_001286072.1/1;CC=c.-1038G>C;VC=5UTR;Gene=MOV10/NM_020963.4/0;CC=c.-122G>C;VC=5UTR;Gene=MOV10/NM_001130079.2/0;CC=c.-66+59G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,G:11:11:0:0:6,5:197,153:19.28,0.00:19.28,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:59.8,6.0:0,0:0,0:33,52:118,99:20,23:NM_020963.3(MOV10) c.-122G>C,-:0.1,-:NOT_FOUND,- 1 113217673 . T . . NT END=113230949;NT GT ./. 1 113230758 rs2999159 A G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1072,G/0.8928;Gene=MOV10/NM_001286072.1/1;CC=c.-638-192A>G;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.138-799A>G;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.138-799A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:338:38.57:38.57:0.00:1.00:1.00:0.00:60:34.6:0:0:55:95:41:NM_020963.3(MOV10) c.138-799A>G,NM_020963.3(MOV10) c.138-799A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 113231286 rs12126971 T C 151 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.775,C/0.225;Gene=MOV10/NM_001286072.1/1;CC=c.-302T>C;VC=5UTR;Gene=MOV10/NM_020963.4/0;CC=c.138-271T>C;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.138-271T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:98:71:0:0:49,49:1568,1503:150.67,0.00:75.81,0.00:74.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,10.2:0,0:0,0:70,80:79,69:39,37:NM_020963.3(MOV10) c.138-271T>C,-:0.26,-:NOT_FOUND,- 1 113231762 . T . . NT END=113232036;NT GT ./. 1 113232274 . T . . NT END=113232461;NT GT ./. 1 113232722 . T . . NT END=113234286;NT GT ./. 1 113234179 rs3795819 C T 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.7161,T/0.2839;Gene=MOV10/NM_001286072.1/1;CC=c.669-108C>T;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.837-108C>T;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.837-108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:45:0:0:27,20:893,697:0.00,65.32:0.00,63.11:0.00,2.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,41.4:0,0:0,0:26,52:115,98:16,18:-,NM_020963.3(MOV10) c.837-108C>T:-,0.32:-,NOT_FOUND 1 113234423 . T . . NT END=113235382;NT GT ./. 1 113234456 rs2932532 G A 80 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.4804,A/0.5196;PC=0.001;Gene=MOV10/NM_001286072.1/1;CC=c.803+35G>A;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.971+35G>A;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.971+35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:54:22:0:0:26,27,1:834,846,13:79.86,0.00,0.09:20.72,0.00,0.24:59.14,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.7,13.0,71.0:0,0,0:0,0,0:116,93,118:34,48,33:23,25,0:NM_020963.3(MOV10) c.971+35G>A,-:0.47,-:0.522989,- 1 113235553 . T . . NT END=113236639;NT GT ./. 1 113236534 rs1110042 A T 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7153,T/0.2847;PC=0.004;Gene=MOV10/NM_001286072.1/1;CC=c.973-106A>T;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.1141-106A>T;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.1141-106A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:27:0:0:14,13:453,390:0.00,37.06:0.00,32.46:0.00,4.60:0.00,1.00:0.00,1.00:0.00,0.96:60,60:2.9,40.2:0,0:0,0:63,30:88,121:41,27:-,NM_020963.3(MOV10) c.1141-106A>T:-,0.32:-,NOT_FOUND 1 113236681 rs3748656 C T 114 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.7153,A/.,T/0.2847;PC=0.321;Gene=MOV10/NM_001286072.1/1;CC=c.1014C>T;ProtCh=p.G338=;VC=Silent;Gene=MOV10/NM_020963.4/0;CC=c.1182C>T;ProtCh=p.G394=;VC=Silent;Gene=MOV10/NM_001130079.2/0;CC=c.1182C>T;ProtCh=p.G394=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:82:62:0:0:2,42,38:46,1374,1196:2.17,0.00,113.66:0.04,0.00,64.04:2.14,0.00,49.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:53.5,8.4,38.4:0,0,0:0,0,0:94,60,72:36,80,76:41,25,25:-,NM_020963.3(MOV10) c.1182C>T (p.(=)):-,0.32:-,0.197832 1 113236796 . T . . NT END=113237074;NT GT ./. 1 113237171 rs883593 A G 176 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=A/0.7153,G/0.2847;Gene=MOV10/NM_001286072.1/1;CC=c.1224A>G;ProtCh=p.T408=;VC=Silent;Gene=MOV10/NM_020963.4/0;CC=c.1392A>G;ProtCh=p.T464=;VC=Silent;Gene=MOV10/NM_001130079.2/0;CC=c.1392A>G;ProtCh=p.T464=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:128:90:0:0:67,61:2275,1859:0.00,176.38:0.00,95.64:0.00,80.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,38.1:0,0:0,0:61,59:83,91:35,33:-,NM_020963.3(MOV10) c.1392A>G (p.(=)):-,0.32:-,0.197294 1 113237253 . T . . NT END=113237370;NT GT ./. 1 113237520 . T . . NT END=113238037;NT GT ./. 1 113238198 . T . . NT END=113238769;NT GT ./. 1 113238201 rs17030647 T C 99 nt VT=SNV;PN=C;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.9425,C/0.05751;PC=0.003;Gene=MOV10/NM_001286072.1/1;CC=c.1611+5T>C;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.1779+5T>C;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.1779+5T>C;VC=Intron;DM=MOV10/AAA_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:70:41:0:0:32,1,37:1043,14,1248:98.86,0.07,0.00:34.66,0.22,0.00:64.21,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:51.8,205.0,2.4:0,0,0:0,0,0:77,98,86:67,44,61:24,0,28:NM_020963.3(MOV10) c.1779+5T>C,-:0.07,-:0.043288,- 1 113238593 rs12406282 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7155,A/0.2845;PC=0.007;Gene=MOV10/NM_001286072.1/1;CC=c.1612-177G>A;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.1780-177G>A;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.1780-177G>A;VC=Intron;DM=MOV10/AAA_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G:10:10:0:0:5,5:166,159:15.97,0.00:15.97,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:40.0,0.0:0,0:0,0:65,43:85,108:16,24:NM_020963.3(MOV10) c.1780-177G>A,-:0.32,-:NOT_FOUND,- 1 113238665 rs71584764 T TA 22 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.7151,TA/0.2849;DB;DBA=NA;PAF=T/0.7151,TA/0.2849;NP=128;PC=0.002;Gene=MOV10/NM_001286072.1/1;CC=c.1612-97_1612-96insA;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.1780-97_1780-96insA;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.1780-97_1780-96insA;VC=Intron;DM=MOV10/AAA_11;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:20:20:8:0:1,11,8:26,333,242:1.54,0.00,22.39:1.54,0.00,22.39:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:26.0,7.8,52.0:0,0,0:0,0,0:1,35,44:150,115,106:0,34,39:-,NM_020963.3(MOV10) c.1780-105_1780-104insA:-,0.32:-,NOT_FOUND 1 113238875 . T . . NT END=113239058;NT GT ./. 1 113239158 . T . . NT END=113239251;NT GT ./. 1 113239382 rs17030651 G A 101 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.7654,A/0.2346;PC=1.000;Gene=MOV10/NM_001286072.1/1;CC=c.1944G>A;ProtCh=p.E648=;VC=Silent;Gene=MOV10/NM_020963.4/0;CC=c.2112G>A;ProtCh=p.E704=;VC=Silent;Gene=MOV10/NM_001130079.2/0;CC=c.2112G>A;ProtCh=p.E704=;VC=Silent;DM=MOV10/AAA_11;DM=MOV10/AAA_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:62:0:0:36,64:1127,2112:101.49,0.00:53.30,0.00:48.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,17.2:0,0:0,0:80,86:66,63:23,39:NM_020963.3(MOV10) c.2112G>A (p.(=)),-:0.27,-:0.167077,- 1 113239470 . T . . NT END=113240615;NT GT ./. 1 113239478 rs2999158 T C 83 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.1937,C/0.8063;Gene=MOV10/NM_001286072.1/1;CC=c.2030+10T>C;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.2198+10T>C;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.2198+10T>C;VC=Intron;DM=MOV10/AAA_11;DM=MOV10/AAA_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:20:0:0:27,19:833,580:82.57,0.00:21.84,0.00:60.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,27.5:0,0:0,0:97,92:53,43:28,24:NM_020963.3(MOV10) c.2198+10T>C,-:0.78,-:0.72908,- 1 113240735 . T . . NT END=113240908;NT GT ./. 1 113240790 rs12133583 G T 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.7153,T/0.2847;Gene=MOV10/NM_001286072.1/1;CC=c.2148+57G>T;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.2316+57G>T;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.2316+57G>T;VC=Intron;DM=MOV10/AAA_12;DM=MOV10/AAA_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:61:34:0:0:28,33:855,1038:0.00,101.30:0.00,47.01:0.00,54.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,43.0:0,0:0,0:92,70:57,81:40,39:-,NM_020963.3(MOV10) c.2316+57G>T:-,0.32:-,NOT_FOUND 1 113241052 rs2306940 T C 134 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.7129,C/0.2871;PC=0.009;Gene=MOV10/NM_001286072.1/1;CC=c.2292T>C;ProtCh=p.A764=;VC=Silent;Gene=MOV10/NM_020963.4/0;CC=c.2460T>C;ProtCh=p.A820=;VC=Silent;Gene=MOV10/NM_001130079.2/0;CC=c.2460T>C;ProtCh=p.A820=;VC=Silent;DM=MOV10/AAA_12;DM=MOV10/AAA_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:101:61:0:0:45,56:1425,1822:133.80,0.00:57.05,0.00:76.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,7.7:0,0:0,0:72,75:75,63:28,29:NM_020963.3(MOV10) c.2460T>C (p.(=)),-:0.32,-:0.19937,- 1 113241102 . T . . NT END=113241336;NT GT ./. 1 113241413 . T . . NT END=113242079;NT GT ./. 1 113242122 rs1106287 T G 108 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.7101,G/0.2899;PC=0.009;Gene=MOV10/NM_001286072.1/1;CC=c.2416-185T>G;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.2584-185T>G;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.2584-185T>G;VC=Intron;DM=MOV10/AAA_12;DM=MOV10/AAA_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:84:69:0:0:36,48:1161,1596:108.34,0.00:68.91,0.00:39.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,9.0:0,0:0,0:72,71:74,68:26,44:NM_020963.3(MOV10) c.2584-185T>G,-:0.33,-:NOT_FOUND,- 1 113242301 . C . . NT END=113242306;NT GT ./. 1 113242434 . T . . NT END=113242515;NT GT ./. 1 113242488 rs3013431 C T 159 nt VT=SNV;PN=C;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.4543,T/0.5457;PC=0.001;Gene=MOV10/NM_001286072.1/1;CC=c.2542-28C>T;VC=Intron;Gene=MOV10/NM_020963.4/0;CC=c.2710-28C>T;VC=Intron;Gene=MOV10/NM_001130079.2/0;CC=c.2710-28C>T;VC=Intron;DM=MOV10/AAA_12;DM=MOV10/AAA_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:114:75:0:0:61,53:1935,1684:0.00,159.42:0.00,79.49:0.00,79.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,43.7:0,0:0,0:81,82:64,67:36,32:-,NM_020963.3(MOV10) c.2710-28C>T:-,0.51:-,0.582423 1 113242606 . T . . NT END=113242840;NT GT ./. 1 113242964 . T . . NT END=113243037;NT GT ./. 1 113243048 rs6679 C T 188 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.7161,T/0.2839;Gene=MOV10/NM_001286072.1/1;CC=c.2763C>T;ProtCh=p.S921=;VC=Silent;Gene=MOV10/NM_020963.4/0;CC=c.2931C>T;ProtCh=p.S977=;VC=Silent;Gene=MOV10/NM_001130079.2/0;CC=c.2931C>T;ProtCh=p.S977=;VC=Silent;DM=MOV10/AAA_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:146:84:0:0:79,1,66:2515,10,2000:0.00,-0.17,188.09:0.00,-0.03,94.44:0.00,-0.14,93.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.3,10.0,37.7:0,0,0:0,0,0:83,75,90:66,74,57:34,0,28:-,NM_020963.3(MOV10) c.2931C>T (p.(=)):-,0.32:-,0.199216 1 113243304 . C . . NT END=113244161;NT GT ./. 1 113244336 . C . . NT END=113245184;NT GT ./. 1 113244433 rs2279500 T C 90 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1062,C/0.8938;Gene=RHOC/NM_001042679.1/1;CC=c.409-98A>G;VC=Intron;Gene=RHOC/NM_001042678.1/0;CC=c.409-98A>G;VC=Intron;Gene=RHOC/NM_175744.4/0;CC=c.409-98A>G;VC=Intron;DM=RHOC/Ras;DM=RHOC/Ras;DM=RHOC/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:C,T:26:2:0:0:25,1:795,10:89.86,0.00:3.91,0.00:85.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,153.0:0,0:0,0:107,59:44,57:26,0:NM_175744.4(RHOC) c.409-98A>G,NM_175744.4(RHOC) c.409-98A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 113245316 . C . . NT END=113245620;NT GT ./. 1 113245742 . C . . NT END=113246265;NT GT ./. 1 113246422 . G . . NT END=113252633;NT GT ./. 1 113246506 rs2306937 C T 54 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.7712,T/0.2288;Gene=RHOC/NM_001042679.1/1;CC=c.-7-78G>A;VC=Intron;Gene=RHOC/NM_001042678.1/0;CC=c.-7-78G>A;VC=Intron;Gene=RHOC/NM_175744.4/0;CC=c.-7-78G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:10:0:0:19,18:605,562:0.00,53.63:0.00,5.82:0.00,47.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,41.7:0,0:0,0:96,107:52,43:33,23:-,NM_175744.4(RHOC) c.-7-78G>A:-,0.26:-,NOT_FOUND 1 113249085 rs370899656 AC A 14 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=94;PC=0.194;Gene=RHOC/NM_001042679.1/1;CC=c.-77+369delG;VC=Intron;Gene=RHOC/NM_001042678.1/0;CC=c.-8+614delG;VC=Intron;Gene=RHOC/NM_175744.4/0;CC=c.-77+614delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:AC,C,I,A:8:5:1:6:2,1,1,4:36,9,19,137:0.00,0.43,1.37,13.82:0.00,-0.06,-0.06,6.90:0.00,0.49,1.43,6.91:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.99:70,43,19,60:39.5,92.0,20.0,22.2:1,0,0,0:0,0,0,0:48,31,41,104:102,120,65,35:28,0,0,3:-,NM_175744.4(RHOC) c.-77+614delG:-,NOT_FOUND:-,NOT_FOUND 1 113252614 rs41310100 C A 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.473,A/0.527;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:46:42:0:0:23,23:731,783:70.19,0.00:60.58,0.00:9.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.3,3.7:0,0:0,0:75,62:76,86:41,27:NM_175744.4(RHOC) c.-402-u2589G>T,-:0.48,-:NOT_FOUND,- 1 113252933 . C . . NT END=113253081;NT GT ./. 1 113253234 . C . . NT END=113253365;NT GT ./. 1 113253474 . C . . NT END=113253629;NT GT ./. 1 113253694 . C . . NT END=113253887;NT GT ./. 1 113254007 . C . . NT END=113254592;NT GT ./. 1 113254467 rs113390824 A G 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9884,G/0.01158;Gene=PPM1J/NM_005167.5/1;CC=c.927+126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:14:14:0:0:5,9:163,223:0.00,22.51:0.00,22.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:39.4,97.8:0,0:0,0:15,41:135,109:14,21:-,NM_005167.5(PPM1J) c.927+126T>C:-,0.01:-,NOT_FOUND 1 113254484 rs4839258 A G 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.01358,G/0.9864;Gene=PPM1J/NM_005167.5/1;CC=c.927+109T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:21:0:0:21:690:79.01:79.01:0.00:1.00:1.00:0.00:60:67.7:0:0:20:131:17:NM_005167.5(PPM1J) c.927+109T>C,NM_005167.5(PPM1J) c.927+109T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 113254678 . C . . NT END=113254966;NT GT ./. 1 113255080 . C . . NT END=113255365;NT GT ./. 1 113255389 rs10857971 C T 328 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.03215,T/0.9679;PC=1.000;Gene=PPM1J/NM_005167.5/1;CC=c.706G>A;ProtCh=p.V236I;VC=Missense;DM=PPM1J/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:92:65:0:0:92:2843:327.75:180.96:146.79:1.00:1.00:1.00:60:53.4:0:0:50:96:28:NM_005167.5(PPM1J) c.706G>A (p.Val236Ile),NM_005167.5(PPM1J) c.706G>A (p.Val236Ile):0.97,0.97:0.960864,0.960864 1 113255456 rs34611728 C A 160 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.9525,A/0.04752;PC=0.003;Gene=PPM1J/NM_005167.5/1;CC=c.639G>T;ProtCh=p.L213F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:94:65:0:0:51,43:1640,1436:160.19,0.00:70.14,0.00:90.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.8,26.3:0,0:0,0:97,70:50,79:20,35:NM_005167.5(PPM1J) c.639G>T (p.Leu213Phe),-:0.05,-:0.094495,- 1 113255654 . C . . NT END=113256118;NT GT ./. 1 113255686 rs77889563 T TTG 17 idl,rn VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=277;Gene=PPM1J/NM_005167.5/1;CC=c.442-34_442-33insCA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,T,TTG,D:46:29:12:1:1,37,7,1:9,1063,369,34:-0.18,0.00,17.44,1.86:0.01,0.00,7.72,-0.14:-0.18,0.00,9.72,2.00:0.00,0.00,0.92,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.98,0.00:60,60,60,60:79.0,15.9,15.7,0.0:0,0,5,0:0,0,0,0:145,119,57,58:6,30,89,92:0,19,23,0:-,NM_005167.5(PPM1J) c.442-34_442-33insCA:-,NOT_FOUND:-,NOT_FOUND 1 113256234 . C . . NT END=113256679;NT GT ./. 1 113256368 rs12724682 G C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9517,C/0.04832;PC=1.000;Gene=PPM1J/NM_005167.5/1;CC=c.327-135C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:2:0:0:8,8:254,277:24.39,0.00:-0.60,0.00:24.99,0.00:1.00,0.00:0.79,0.00:0.99,0.00:60,60:31.8,32.0:0,0:0,0:97,123:53,27:37,6:NM_005167.5(PPM1J) c.327-135C>G,-:0.05,-:NOT_FOUND,- 1 113256382 rs45492096 A C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5298,C/0.4702;PC=0.009;Gene=PPM1J/NM_005167.5/1;CC=c.327-149T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:2:0:0:7,8:247,243:0.00,23.61:0.00,7.21:0.00,16.40:0.00,1.00:0.00,0.82:0.00,1.00:60,60:31.6,41.2:0,0:0,0:106,132:45,18:32,11:-,NM_005167.5(PPM1J) c.327-149T>G:-,0.43:-,NOT_FOUND 1 113257924 . G . . NT END=113264855;NT GT ./. 1 113264930 rs35995150 C G 241 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=143;DB;DBA=NA;PAF=C/0.9449,G/0.05511;PC=0.001;Gene=FAM19A3/NM_001004440.1/1;CC=c.75C>G;ProtCh=p.T25=;VC=Silent;Gene=FAM19A3/NM_182759.2/0;CC=c.75C>G;ProtCh=p.T25=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:143:102:0:0:68,75:2123,2485:0.00,241.33:0.00,93.23:0.00,148.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,41.5:0,0:0,0:84,74:56,71:34,29:-,NM_001004440.1(FAM19A3) c.75C>G (p.(=)):-,0.06:-,0.099954 1 113264971 . G . . NT END=113265637;NT GT ./. 1 113265788 . G . . NT END=113266566;NT GT ./. 1 113266760 . G . . NT END=113269250;NT GT ./. 1 113269303 . G . . NT END=113456512;NT GT ./. 1 113290836 rs11102528 G A 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1162,A/0.8838;PC=0.845 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:7:0:0:11:338:39.03:24.43:14.61:1.00:1.00:1.00:60:62.3:0:0:56:95:33:XM_060943.1(LOC128322) c.120G>A (p.(=)),XM_060943.1(LOC128322) c.120G>A (p.(=)):0.9,0.9:NOT_FOUND,NOT_FOUND 1 113290922 rs11102529 C G 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.1154,G/0.8846;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:25:0:0:27:908:103.67:77.43:26.24:1.00:1.00:1.00:60:45.6:0:0:56:95:30:XM_060943.1(LOC128322) c.206C>G (p.Thr69Arg),XM_060943.1(LOC128322) c.206C>G (p.Thr69Arg):0.9,0.9:NOT_FOUND,NOT_FOUND 1 113301074 . TGA T 7 rn VT=DEL;SST=Single;DP=4;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:TGA,T:4:3:0:2:2,2:55,68:0.00,6.55:0.00,5.21:0.00,1.34:0.00,0.51:0.00,0.89:0.00,0.89:60,60:95.0,0.0:0,0:0,0:70,85:63,64:23,3:-,chr1 g.113301075_113301076delGA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 113410391 rs71963404 CTGTG C 10 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CTGTG/0.2532,C/0.7468;DB;DBA=NA;PAF=CTGTG/0.2532,C/0.7468;NP=58;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:5:0:6:3:179:10.23:10.23:0.00:0.73:0.96:0.89:60:62.7:3:0:74:73:24:chr1 g.113410392_113410395delTGTG (intergenic),chr1 g.113410392_113410395delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 113456546 rs1049434 A T 109 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=82;DB;DBA=in-clinvar;PAF=A/0.3233,T/0.6767;PC=0.089;Gene=SLC16A1/NM_001166496.1/0;CC=c.1470T>A;ProtCh=p.D490E;VC=Missense;Gene=SLC16A1/NM_003051.3/1;CC=c.1470T>A;ProtCh=p.D490E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:82:68:0:0:47,35:1575,1170:0.00,109.39:0.00,80.75:0.00,28.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,37.7:0,0:0,0:68,52:77,83:38,34:-,NM_003051.3(SLC16A1) c.1470T>A (p.Asp490Glu):-,0.66:-,0.666231 1 113456788 . C . . NT END=113459799;NT GT ./. 1 113460667 . C . . NT END=113464611;NT GT ./. 1 113460676 rs72299604 CAATA C 31 idl,rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=CAATA/0.123,C/0.877;DB;DBA=NA;PAF=CAATA/0.123,C/0.877;DB;DBA=NA;PAF=CAATA/0.123,C/0.877;DB;DBA=NA;PAF=CAATA/0.123,C/0.877;NP=37;PC=0.038;Gene=SLC16A1/NM_001166496.1/0;CC=c.362-14_362-11delTATT;VC=Intron;Gene=SLC16A1/NM_003051.3/1;CC=c.362-14_362-11delTATT;VC=Intron;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAATA,C:46:20:0:23:34,12:1132,632:0.00,31.36:0.00,8.35:0.00,23.02:0.00,1.00:0.00,0.98:0.00,1.00:60,60:20.3,61.2:0,9:0,0:134,78:12,73:12,12:-,NM_003051.3(SLC16A1) c.362-14_362-11delTATT:-,NOT_FOUND:-,0.591036 1 113460683 rs1344429 T G 22 idl;end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6432,G/0.3568;NP=796;PC=0.352;Gene=SLC16A1/NM_001166496.1/0;CC=c.362-17A>C;VC=Intron;Gene=SLC16A1/NM_003051.3/1;CC=c.362-17A>C;VC=Intron;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:7:0:15:8,26:262,737:21.98,0.00:1.14,0.00:20.84,0.00:0.98,0.00:0.81,0.00:1.00,0.00:60,60:51.5,30.5:0,11:0,0:144,102:6,38:2,20:NM_003051.3(SLC16A1) c.362-17A>C,-:0.34,-:0.284427,- 1 113460687 rs201021807 T G 38 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.032;Gene=SLC16A1/NM_001166496.1/0;CC=c.362-21A>C;VC=Intron;Gene=SLC16A1/NM_003051.3/1;CC=c.362-21A>C;VC=Intron;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:41:13:0:2:13,28:424,810:37.52,0.00:5.81,0.00:31.71,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:52.5,23.5:11,12:0,0:85,95:66,34:12,29:NM_003051.3(SLC16A1) c.362-21A>C,-:NOT_FOUND,-:0.000244,- 1 113464756 . C . . NT END=113471713;NT GT ./. 1 113471629 . CT C 13 idl,rn VT=DEL;SST=Single;DP=24;NP=11;Gene=SLC16A1/NM_001166496.1/0;CC=c.217+84delA;VC=Intron;Gene=SLC16A1/NM_003051.3/1;CC=c.217+84delA;VC=Intron;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;DM=SLC16A1/MFS_1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:CT,I,C:22:24:2:7:15,2,5:489,65,223:0.00,4.73,13.16:0.00,4.79,13.31:0.00,-0.06,-0.15:0.00,0.00,0.83:0.00,0.00,0.83:0.00,0.00,0.54:60,60,60:4.7,0.0,28.2:0,0,2:0,0,0:51,71,38:99,79,113:37,33,25:-,NM_003051.3(SLC16A1) c.217+84delA:-,NOT_FOUND:-,NOT_FOUND 1 113471931 . T . . NT END=113616028;NT GT ./. 1 113552839 rs60348158 T TTG 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5449,TTG/0.4551;DB;DBA=NA;PAF=T/0.5449,TTG/0.4551,TTGTG/.;NP=12;NP=270;PC=0.024;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:T,TTG:7:5:3:0:4,3:108,88:0.00,8.17:0.00,2.77:0.00,5.40:0.00,0.69:0.00,0.93:0.00,0.93:60,60:53.0,22.7:0,0:0,0:69,48:64,64:24,25:-,chr1 g.113552839_113552840insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 113616268 . G . . NT END=113633939;NT GT ./. 1 113616382 rs56062000 G GA 46 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6088,GA/0.3912;DB;DBA=NA;PAF=G/0.6088,GA/0.3912;NP=1089;PC=0.206;Gene=LRIG2/NM_001312686/0;CC=c.-183+117dupA;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.239+117dupA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:22:0:14:0:8,14:277,456:0.00,46.01:0.00,0.00:0.00,46.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.9,1.6:0,0:0,0:110,108:40,43:21,24:-,NM_014813.1(LRIG2) c.239+115_239+116insA:-,0.41:-,NOT_FOUND 1 113617539 rs6537771 A G 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.09685,G/0.9032;PC=0.003;Gene=LRIG2/NM_001312686/0;CC=c.-183+1272A>G;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.239+1272A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:44.6:1:0:93:58:41:NM_014813.1(LRIG2) c.239+1272A>G,NM_014813.1(LRIG2) c.239+1272A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 113634006 . G . . NT END=113635827;NT GT ./. 1 113635903 . G . . NT END=113636051;NT GT ./. 1 113636187 . G . . NT END=113636960;NT GT ./. 1 113636820 rs1216801 G A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5785,A/0.4215;PC=0.001;Gene=LRIG2/NM_001312686/0;CC=c.207-141G>A;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.516-141G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:8:8:0:0:6,2:199,70:20.81,0.00:20.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.2,16.5:0,0:0,0:46,59:100,91:39,47:NM_014813.1(LRIG2) c.516-141G>A,-:0.43,-:NOT_FOUND,- 1 113636924 rs1216802 T C 83 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1526,C/0.8474;Gene=LRIG2/NM_001312686/0;CC=c.207-37T>C;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.516-37T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:A,C,T:26:22:0:0:1,24,1:8,735,11:0.18,83.05,0.00:0.18,60.15,0.00:0.00,22.90,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:103.0,38.0,176.0:0,0,0:0,0,0:114,64,43:18,86,66:0,27,0:NM_014813.1(LRIG2) c.516-37T>C,NM_014813.1(LRIG2) c.516-37T>C:0.87,0.87:0.863164,0.863164 1 113637105 . G . . NT END=113637233;NT GT ./. 1 113637378 . G . . NT END=113638495;NT GT ./. 1 113637590 rs372586532 T TTATA 15 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=47;PC=0.001;Gene=LRIG2/NM_001312686/0;CC=c.494+230_494+231insATAT;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.803+230_803+231insATAT;VC=Intron;DM=LRIG2/LRR_8;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:T,TTATA:12:1:5:0:7,5:226,166:0.00,15.45:0.00,-0.23:0.00,15.68:0.00,0.92:0.00,0.61:0.00,0.99:60,60:0.0,15.8:0,0:0,0:124,111:27,40:17,1:-,NM_014813.1(LRIG2) c.803+213_803+214insTATA:-,NOT_FOUND:-,NOT_FOUND 1 113637606 rs67870614 A ATTTT 8 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7185,T/0.2815;DB;DBA=NA;PAF=A/0.6084,ATTTT/0.3916;DB;DBA=NA;PAF=NA;PC=0.002;Gene=LRIG2/NM_001312686/0;CC=c.494+237_494+238insTTTT;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.803+237_803+238insTTTT;VC=Intron;DM=LRIG2/LRR_8;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,ATTTT:12:1:3:0:9,3:292,98:0.00,8.30:0.00,3.18:0.00,5.13:0.00,0.59:0.00,0.50:0.00,0.93:60,60:15.2,0.0:1,0:0,0:131,95:19,56:10,28:-,NM_014813.1(LRIG2) c.803+229_803+230insTTTT:-,NOT_FOUND:-,NOT_FOUND 1 113637631 rs374653311 CTG C 13 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CTG/0.5783,C/0.4217;DB;DBA=NA;PAF=CTG/0.5783,C/0.4217;NP=317;Gene=LRIG2/NM_001312686/0;CC=c.494+256_494+257delGT;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.803+256_803+257delGT;VC=Intron;DM=LRIG2/LRR_8;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:CTG,C:7:1:0:4:3,4:106,129:0.00,12.73:0.00,-0.37:0.00,13.10:0.00,0.90:0.00,0.71:0.00,0.99:60,60:11.0,48.8:0,0:0,0:94,52:57,98:30,35:-,NM_014813.1(LRIG2) c.803+255_803+256delTG:-,0.42:-,NOT_FOUND 1 113637657 rs1216804 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5783,T/0.4217;Gene=LRIG2/NM_001312686/0;CC=c.494+280C>T;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.803+280C>T;VC=Intron;DM=LRIG2/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,T:8:1:0:0:4,4:133,138:0.00,13.30:0.00,-0.30:0.00,13.60:0.00,0.87:0.00,0.67:0.00,0.99:60,60:16.8,48.8:0,0:0,0:81,76:69,74:54,35:-,NM_014813.1(LRIG2) c.803+280C>T:-,0.43:-,NOT_FOUND 1 113637717 rs1216805 T C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.09665,C/0.9034;Gene=LRIG2/NM_001312686/0;CC=c.494+340T>C;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.803+340T>C;VC=Intron;DM=LRIG2/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:157:18.08:0.00:18.08:1.00:0.00:1.00:60:45.2:0:0:94:57:15:NM_014813.1(LRIG2) c.803+340T>C,NM_014813.1(LRIG2) c.803+340T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 113638640 . G . . NT END=113638843;NT GT ./. 1 113638988 . G . . NT END=113641326;NT GT ./. 1 113641408 . G . . NT END=113642832;NT GT ./. 1 113642905 . G . . NT END=113643041;NT GT ./. 1 113643111 . G . . NT END=113650215;NT GT ./. 1 113649953 rs1778019 C G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1524,G/0.8476;Gene=LRIG2/NM_001312686/0;CC=c.1005-263C>G;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.1314-263C>G;VC=Intron;DM=LRIG2/LRR_8;DM=LRIG2/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:39.0:0:0:94:57:28:NM_014813.1(LRIG2) c.1314-263C>G,NM_014813.1(LRIG2) c.1314-263C>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 113650380 . G . . NT END=113652863;NT GT ./. 1 113653185 . G . . NT END=113655100;NT GT ./. 1 113655383 . G . . NT END=113657048;NT GT ./. 1 113657018 rs200615395 AT A 11 idl,rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=25;Gene=LRIG2/NM_001312686/0;CC=c.1772-17delT;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.2081-17delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AT,I,A:51:48:4:6:42,4,5:1304,130,186:0.00,9.00,10.77:0.00,7.84,5.88:0.00,1.16,4.89:0.00,0.00,0.72:0.00,0.00,0.96:0.00,0.00,0.66:60,60,60:37.0,23.2,45.4:0,0,1:0,0,0:48,46,53:97,104,98:24,34,19:-,NM_014813.1(LRIG2) c.2081-30delT:-,NOT_FOUND:-,NOT_FOUND 1 113657092 rs1216793 A C 328 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.09824,C/0.9018;PC=0.075;Gene=LRIG2/NM_001312686/0;CC=c.1815A>C;ProtCh=p.T605=;VC=Silent;Gene=LRIG2/NM_014813.2/1;CC=c.2124A>C;ProtCh=p.T708=;VC=Silent;DM=LRIG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:95:80:0:0:94,1:2843,12:328.33,0.17:221.43,0.17:106.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,115.0:0,0:0,0:52,118:95,33:34,0:NM_014813.1(LRIG2) c.=,NM_014813.1(LRIG2) c.=:0.91,0.91:0.903122,0.903122 1 113657499 . G . . NT END=113658908;NT GT ./. 1 113658887 rs1216791 G A 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.2101,A/0.7899;PC=0.979;Gene=LRIG2/NM_001312686/0;CC=c.2222-22G>A;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.2531-22G>A;VC=Intron;DM=LRIG2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:48:0:0:27,24:824,797:79.90,0.00:62.99,0.00:16.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,8.6:0,0:0,0:59,59:91,91:29,23:NM_014813.1(LRIG2) c.2531-22G>A,-:0.79,-:0.76457,- 1 113659059 . G . . NT END=113661854;NT GT ./. 1 113659065 rs398053355 ACT A 83 nt VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3297;PC=0.002;Gene=LRIG2/NM_001312686/0;CC=c.2371+10_2371+11delCT;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.2680+10_2680+11delCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACT,G,A:71:32:0:28:42,1,28:1357,11,906:0.00,-0.09,83.50:0.00,-0.09,15.19:0.00,-0.00,68.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:2.0,144.0,5.6:0,0,0:0,0,0:107,40,107:38,110,40:19,0,19:-,NM_014813.1(LRIG2) c.2680+8_2680+9delCT:-,0.79:-,0.765016 1 113662146 . G . . NT END=113666496;NT GT ./. 1 113662249 rs12568813 G C 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7153,C/0.2847;Gene=LRIG2/NM_001312686/0;CC=c.2662+104G>C;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.2971+104G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:16:1:0:0:10,6:248,195:24.79,0.00:-0.21,0.00:25.01,0.00:1.00,0.00:0.75,0.00:1.00,0.00:60,60:37.7,0.0:0,0:0,0:101,112:49,38:40,31:NM_014813.1(LRIG2) c.2971+104G>C,-:0.29,-:NOT_FOUND,- 1 113666349 . T TTGTGTGTG 8 idl,nt VT=INS;SST=Single;DP=22;NP=1;NP=4;Gene=LRIG2/NM_001312686/0;CC=c.2663-114_2663-113insTGTGTGTG;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.2972-114_2972-113insTGTGTGTG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TTGTGTGTG,D:20:22:5:1:16,3,1:485,158,32:0.00,7.72,2.01:0.00,6.29,2.02:0.00,1.42,-0.01:0.00,0.48,0.00:0.00,0.48,0.00:0.00,0.38,0.00:60,60,60:68.1,14.7,31.0:1,2,0:0,0,0:48,48,89:101,102,61:35,17,0:-,NM_014813.1(LRIG2) c.2972-148_2972-147insTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 113666351 rs1728222 G T 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2296,T/0.7704;NP=320;Gene=LRIG2/NM_001312686/0;CC=c.2663-146G>T;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.2972-146G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:19:0:1:7,13:249,403:0.00,40.87:0.00,37.51:0.00,3.36:0.00,1.00:0.00,1.00:0.00,0.90:60,60:11.1,86.3:0,0:0,0:80,45:59,106:22,28:-,NM_014813.1(LRIG2) c.2972-146G>T:-,NOT_FOUND:-,NOT_FOUND 1 113666353 rs1728223 G T 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4561,T/0.5439;NP=146;PC=0.001;Gene=LRIG2/NM_001312686/0;CC=c.2663-144G>T;VC=Intron;Gene=LRIG2/NM_014813.2/1;CC=c.2972-144G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:20:19:0:0:1,9,10:8,292,301:0.04,0.00,29.16:0.05,0.00,25.83:-0.01,0.00,3.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.79:60,60,60:91.0,20.2,92.7:0,0,1:0,0,0:13,61,52:138,89,97:0,33,29:-,NM_014813.1(LRIG2) c.2972-144G>T:-,NOT_FOUND:-,NOT_FOUND 1 113666724 . A . . NT END=113933655;NT GT ./. 1 113711956 rs17031158 A G 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9063,G/0.09365;PC=0.355 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:9:0:0:8,10:265,319:0.00,31.28:0.00,9.86:0.00,21.42:0.00,1.00:0.00,0.96:0.00,1.00:60,60:2.5,73.8:0,0:0,0:94,107:55,44:10,27:-,chr1 g.113711955A>G (intergenic):-,0.1:-,NOT_FOUND 1 113711973 rs17031160 G C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9063,C/0.09365;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:17:9:0:0:9,8:281,275:27.28,0.00:9.87,0.00:17.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.2,2.5:0,0:0,0:90,111:61,38:27,10:chr1 g.113711972G>C (intergenic),-:0.1,-:NOT_FOUND,- 1 113933482 rs10857994 C G 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7095,G/0.2905;PC=0.009;Gene=MAGI3/NM_001142782.1/0;CC=c.-174C>G;VC=5UTR;Gene=MAGI3/NM_152900.2/1;CC=c.-174C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,G:15:15:0:0:9,6:309,197:0.00,18.18:0.00,18.18:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:18.7,77.8:0,0:0,0:39,45:112,105:29,4:-,NM_001142782.1(MAGI3) c.-174C>G:-,0.33:-,NOT_FOUND 1 113933570 rs12568854 G A 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.871;Gene=MAGI3/NM_001142782.1/0;CC=c.-86G>A;VC=5UTR;Gene=MAGI3/NM_152900.2/1;CC=c.-86G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:56:0:0:29,30:910,868:87.17,0.00:76.44,0.00:10.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,18.9:0,0:0,0:36,34:114,116:21,27:NM_001142782.1(MAGI3) c.-86G>A,-:0.28,-:NOT_FOUND,- 1 113933972 . G . . NT END=114092136;NT GT ./. 1 113938909 rs55905004 T TTGTG 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3199,TTG/.,TTGTG/0.6801,TTGTGTG/.;DB;DBA=NA;PAF=T/0.3199,TTGTG/0.6801,TTGTGTG/.;NP=3;PC=0.002;Gene=MAGI3/NM_001142782.1/0;CC=c.316+4970_316+4971insTGTG;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.316+4970_316+4971insTGTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TTGTG:4:4:4:0:1,3:28,119:0.00,9.06:0.00,4.43:0.00,4.63:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,35.7:0,1:0,0:102,38:33,105:0,21:-,NM_001142782.1(MAGI3) c.316+4938_316+4939insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 113938988 rs1539411 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7744,T/0.2256;Gene=MAGI3/NM_001142782.1/0;CC=c.316+5017C>T;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.316+5017C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:5:3:0:0:2,3:65,101:0.00,10.07:0.00,5.33:0.00,4.74:0.00,0.78:0.00,0.94:0.00,0.97:60,60:4.0,33.7:0,0:0,0:98,109:35,41:10,40:-,NM_001142782.1(MAGI3) c.316+5017C>T:-,0.27:-,NOT_FOUND 1 113992209 rs556562224 A AT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4;PC=0.312;Gene=MAGI3/NM_001142782.1/0;CC=c.316+58247dupT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.316+58247dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AT:4:3:2:0:2,2:68,68:0.00,6.55:0.00,2.97:0.00,3.58:0.00,0.51:0.00,0.89:0.00,0.67:60,60:33.0,0.0:0,0:0,0:19,90:129,60:11,1:-,NM_001142782.1(MAGI3) c.316+58238_316+58239insT:-,NOT_FOUND:-,NOT_FOUND 1 113992475 rs12025806 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.772,T/0.228;PC=1.000;Gene=MAGI3/NM_001142782.1/0;CC=c.316+58504C>T;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.316+58504C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:32:0:0:21,16:705,539:0.00,50.54:0.00,26.27:0.00,24.28:0.00,1.00:0.00,1.00:0.00,1.00:60,55:13.1,34.9:0,0:0,0:74,75:75,75:28,36:-,NM_001142782.1(MAGI3) c.316+58504C>T:-,0.27:-,NOT_FOUND 1 113993175 rs7518586 C T 81 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.03874,T/0.9613;PC=0.683;Gene=MAGI3/NM_001142782.1/0;CC=c.316+59204C>T;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.316+59204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:14:0:0:23:704:81.30:38.82:42.48:1.00:1.00:1.00:60:32.7:0:0:71:79:38:NM_001142782.1(MAGI3) c.316+59204C>T,NM_001142782.1(MAGI3) c.316+59204C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 113995077 rs56741053 T TAC 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=24;NP=9;Gene=MAGI3/NM_001142782.1/0;CC=c.316+61140_316+61141insAC;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.316+61140_316+61141insAC;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:T,TAC:4:5:3:0:2,2:66,93:0.00,6.41:0.00,4.68:0.00,1.74:0.00,0.46:0.00,0.46:0.00,0.60:60,60:0.0,23.0:0,1:0,0:22,67:128,84:15,17:-,NM_001142782.1(MAGI3) c.316+61106_316+61107insAC:-,NOT_FOUND:-,NOT_FOUND 1 114092111 . G GT 7 rn VT=INS;SST=Single;DP=28;NP=2;NP=21;NP=6;Gene=MAGI3/NM_001142782.1/0;CC=c.317-14dupT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.317-14dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:G,GT,D:28:23:3:1:24,3,1:759,94,29:0.00,6.74,1.56:0.00,1.73,-0.32:0.00,5.02,1.87:0.00,0.44,0.00:0.00,0.84,0.00:0.00,0.58,0.00:60,60,60:36.0,5.7,0.0:0,0,0:0,0,0:66,16,15:84,134,136:38,0,0:-,NM_001142782.1(MAGI3) c.317-26_317-25insT:-,NOT_FOUND:-,NOT_FOUND 1 114092254 . G . . NT END=114123163;NT GT ./. 1 114122954 rs66760520 CTG C 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CTG/0.3433,C/0.6567;DB;DBA=NA;PAF=CTG/0.3433,C/0.6567;NP=365;Gene=MAGI3/NM_001142782.1/0;CC=c.434-208_434-207delGT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.434-208_434-207delGT;VC=Intron;DM=MAGI3/Guanylate_kin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:6:6:193:22.16:22.16:0.00:1.00:1.00:0.00:60:0.0:0:0:72:77:9:NM_001142782.1(MAGI3) c.434-209_434-208delTG,NM_001142782.1(MAGI3) c.434-209_434-208delTG:0.62,0.62:NOT_FOUND,NOT_FOUND 1 114123284 . G . . NT END=114128008;NT GT ./. 1 114128219 . G . . NT END=114133105;NT GT ./. 1 114133022 rs59211723 AT A 95 rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2666;PC=0.546;Gene=MAGI3/NM_001142782.1/0;CC=c.764-77delT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.764-77delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:24:0:26:26:828:95.19:81.97:13.22:1.00:1.00:1.00:60:1.7:0:0:35:115:28:NM_001142782.1(MAGI3) c.764-83delT,NM_001142782.1(MAGI3) c.764-83delT:0.63,0.63:NOT_FOUND,NOT_FOUND 1 114133281 . G . . NT END=114137102;NT GT ./. 1 114136923 rs1217231 G C 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5569,C/0.4431;PC=0.003;Gene=MAGI3/NM_001142782.1/0;CC=c.939-180G>C;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.939-180G>C;VC=Intron;DM=MAGI3/WW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:4:4:0:0:2,2:70,68:6.75,0.00:6.75,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:35.0,9.5:0,0:0,0:59,39:91,111:19,11:NM_001142782.1(MAGI3) c.939-180G>C,-:0.45,-:NOT_FOUND,- 1 114137013 rs3834733 C CAT 44 sb,nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3355,CAT/0.6631,CGT/0.001398;NP=2519;Gene=MAGI3/NM_001142782.1/0;CC=c.939-89_939-88dupAT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.939-89_939-88dupAT;VC=Intron;DM=MAGI3/WW;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:CAT:12:12:12:0:12:383:44.02:42.08:1.94:1.00:1.00:1.00:60:8.0:0:0:42:107:32:NM_001142782.1(MAGI3) c.939-90_939-89insAT,NM_001142782.1(MAGI3) c.939-90_939-89insAT:0.63,0.63:NOT_FOUND,NOT_FOUND 1 114137183 . G . . NT END=114157222;NT GT ./. 1 114157023 rs3761931 G A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8061,A/0.1939;PC=0.507;Gene=MAGI3/NM_001142782.1/0;CC=c.1019-200G>A;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1019-200G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:A,G:8:8:0:0:4,4:128,117:12.30,0.00:12.30,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:57.8,34.8:0,0:0,0:44,65:106,72:7,40:NM_001142782.1(MAGI3) c.1019-200G>A,-:0.17,-:NOT_FOUND,- 1 114157281 . G . . NT END=114162357;NT GT ./. 1 114162191 rs4839332 G T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9024,T/0.09764;PC=0.002;Gene=MAGI3/NM_001142782.1/0;CC=c.1077-167G>T;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1077-167G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:G,T:10:10:0:0:3,7:94,206:0.00,21.22:0.00,21.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.3,81.6:0,0:0,0:66,117:85,34:41,30:-,NM_001142782.1(MAGI3) c.1077-167G>T:-,0.11:-,NOT_FOUND 1 114162194 rs1217192 G A 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3219,A/0.6781;Gene=MAGI3/NM_001142782.1/0;CC=c.1077-164G>A;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1077-164G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:267:30.97:30.97:0.00:1.00:1.00:0.00:60:70.3:0:0:79:72:41:NM_001142782.1(MAGI3) c.1077-164G>A,NM_001142782.1(MAGI3) c.1077-164G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 114162453 . G . . NT END=114165427;NT GT ./. 1 114162619 rs1217193 C G 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3217,G/0.6783;PC=0.996;Gene=MAGI3/NM_001142782.1/0;CC=c.1171+167C>G;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1171+167C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:221:25.42:0.00:25.42:1.00:0.00:1.00:60:47.3:0:0:105:46:29:NM_001142782.1(MAGI3) c.1171+167C>G,NM_001142782.1(MAGI3) c.1171+167C>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 114165617 . G . . NT END=114184532;NT GT ./. 1 114165757 rs2636006 A C 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.01398,C/0.986;PC=0.032;Gene=MAGI3/NM_001142782.1/0;CC=c.1360+141A>C;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1360+141A>C;VC=Intron;DM=MAGI3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C:10:0:0:0:10:257:30.26:0.00:30.26:1.00:0.00:1.00:60:41.2:0:0:79:71:20:NM_001142782.1(MAGI3) c.1360+141A>C,NM_001142782.1(MAGI3) c.1360+141A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 114166115 . TATA T 8 nt VT=DEL;SST=Single;DP=7;NP=12;PC=0.011;Gene=MAGI3/NM_001142782.1/0;CC=c.1360+500_1360+502delATA;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1360+500_1360+502delATA;VC=Intron;DM=MAGI3/PDZ;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:TATA,T:7:1:0:3:4,3:131,91:0.00,8.45:0.00,-0.12:0.00,8.58:0.00,0.69:0.00,0.62:0.00,0.69:60,60:63.2,50.7:4,0:0,0:106,31:43,120:15,5:-,NM_001142782.1(MAGI3) c.1360+500_1360+502delATA:-,NOT_FOUND:-,NOT_FOUND 1 114166117 rs139454522 TA T 15 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TA/0.2869,T/0.7131;NP=510;PC=0.011;Gene=MAGI3/NM_001142782.1/0;CC=c.1360+502delA;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1360+502delA;VC=Intron;DM=MAGI3/PDZ;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:7:4:126:14.51:1.79:12.72:1.00:1.00:1.00:60:63.2:0:0:108:41:15:NM_001142782.1(MAGI3) c.1360+502delA,NM_001142782.1(MAGI3) c.1360+502delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 114166133 rs192524208 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9016,A/0.09844;PC=0.086;Gene=MAGI3/NM_001142782.1/0;CC=c.1360+517G>A;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1360+517G>A;VC=Intron;DM=MAGI3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:8:1:0:0:5,3:175,70:17.64,0.00:-0.21,0.00:17.86,0.00:0.97,0.00:0.75,0.00:0.97,0.00:60,60:64.2,35.3:0,0:0,0:58,81:93,70:17,30:NM_001142782.1(MAGI3) c.1360+517G>A,-:0.11,-:NOT_FOUND,- 1 114185139 . G . . NT END=114186364;NT GT ./. 1 114186138 rs3747998 G C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8057,C/0.1943;PC=0.004;Gene=MAGI3/NM_001142782.1/0;CC=c.1967-227G>C;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1967-227G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,G:6:6:0:0:4,2:134,64:13.65,0.00:13.65,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:33.5,37.5:0,0:0,0:67,34:84,108:22,10:NM_001142782.1(MAGI3) c.1967-227G>C,-:0.17,-:NOT_FOUND,- 1 114186397 . G . . NT END=114189107;NT GT ./. 1 114189067 rs3761934 G T 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.902,T/0.09804;PC=0.009;Gene=MAGI3/NM_001142782.1/0;CC=c.1999-41G>T;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.1999-41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:26:22:0:0:14,12:467,384:0.00,36.34:0.00,24.11:0.00,12.23:0.00,1.00:0.00,1.00:0.00,0.99:60,60:3.7,39.6:0,0:0,0:54,55:95,96:33,28:-,NM_001142782.1(MAGI3) c.1999-41G>T:-,0.11:-,0.093952 1 114189265 . G . . NT END=114191858;NT GT ./. 1 114191951 . G . . NT END=114193635;NT GT ./. 1 114193829 . G . . NT END=114196451;NT GT ./. 1 114196364 rs2359174 T G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8045,G/0.1955;PC=0.819;Gene=MAGI3/NM_001142782.1/0;CC=c.2441-88T>G;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.2441-88T>G;VC=Intron;DM=MAGI3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:18:18:0:0:8,10:270,324:25.45,0.00:25.57,0.00:-0.13,0.00:0.99,0.00:0.99,0.00:0.63,0.00:60,60:41.5,1.2:0,0:0,0:44,57:107,92:21,14:NM_001142782.1(MAGI3) c.2441-88T>G,-:0.17,-:NOT_FOUND,- 1 114196495 rs2359173 A G 110 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.8057,G/0.1943;PC=0.004;Gene=MAGI3/NM_001142782.1/0;CC=c.2484A>G;ProtCh=p.T828=;VC=Silent;Gene=MAGI3/NM_152900.2/1;CC=c.2484A>G;ProtCh=p.T828=;VC=Silent;DM=MAGI3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:85:65:0:0:48,37:1590,1172:0.00,109.53:0.00,51.39:0.00,58.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,43.5:0,0:0,0:74,57:77,81:29,28:-,NM_001142782.1(MAGI3) c.2484A>G (p.(=)):-,0.17:-,0.22382 1 114196641 . G . . NT END=114201701;NT GT ./. 1 114201888 . G . . NT END=114214355;NT GT ./. 1 114201994 rs67658096 CTG C 27 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=969;Gene=MAGI3/NM_001142782.1/0;CC=c.2815+111_2815+112delGT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.2815+111_2815+112delGT;VC=Intron;DM=MAGI3/PDZ;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTG,C:34:2:0:10:24,10:816,314:0.00,27.23:0.00,-0.15:0.00,27.38:0.00,1.00:0.00,0.59:0.00,1.00:60,60:3.3,2.7:0,0:0,0:106,104:45,46:34,26:-,NM_001142782.1(MAGI3) c.2815+108_2815+109delTG:-,0.17:-,NOT_FOUND 1 114214459 . G . . NT END=114215236;NT GT ./. 1 114215083 rs67594773 CTCTGA C 35 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1703;Gene=MAGI3/NM_001142782.1/0;CC=c.2919-147_2919-143delCTGAT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.2919-147_2919-143delCTGAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:CTCTGA,C:12:12:0:10:2,10:54,321:0.00,34.53:0.00,34.53:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.5,3.3:0,0:0,0:137,30:4,120:3,9:-,NM_001142782.1(MAGI3) c.2919-153_2919-149delTCTGA:-,1:-,NOT_FOUND 1 114215364 . G . . NT END=114215943;NT GT ./. 1 114216088 . G . . NT END=114223819;NT GT ./. 1 114223635 rs12758546 C T 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8061,T/0.1939;Gene=MAGI3/NM_001142782.1/0;CC=c.3190-185C>T;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.3190-185C>T;VC=Intron;DM=MAGI3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,T:14:14:0:0:6,8:167,257:0.00,25.37:0.00,25.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.2,36.2:0,0:0,0:89,40:61,110:28,39:-,NM_001142782.1(MAGI3) c.3190-185C>T:-,0.17:-,NOT_FOUND 1 114223959 . G . . NT END=114224833;NT GT ./. 1 114224782 rs529870148 A AT 68 idl,rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=29;PC=0.715;Gene=MAGI3/NM_001142782.1/0;CC=c.3329-721dupT;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.3329-36dupT;VC=Intron;DM=MAGI3/PDZ;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:41:36:26:4:15,22,4:483,811,105:0.00,68.28,7.95:0.00,47.41,6.67:0.00,20.87,1.27:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:42.3,56.0,45.2:0,4,0:0,0,0:61,42,36:81,107,114:36,17,12:-,NM_001142782.1(MAGI3) c.3329-737_3329-736insT:-,NOT_FOUND:-,NOT_FOUND 1 114225306 rs4838997 G A 288 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.3199,A/0.6801;Gene=MAGI3/NM_001142782.1/0;CC=c.3329-213G>A;VC=Intron;Gene=MAGI3/NM_152900.2/1;CC=c.*423G>A;VC=3UTR;DM=MAGI3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:44:0:0:78:2507:287.70:136.91:150.79:1.00:1.00:1.00:60:35.8:0:0:73:72:37:NM_001142782.1(MAGI3) c.3329-213G>A,NM_001142782.1(MAGI3) c.3329-213G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 114226637 . C . . NT END=114240326;NT GT ./. 1 114226705 rs371032269 C CT 11 rn VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=MAGI3/NM_001142782.1/0;CC=c.*82dupT;VC=3UTR;Gene=MAGI3/NM_152900.2/1;CC=c.*1835dupT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,T,CT,D:45:9:5:2:38,1,5,1:1176,12,150,54:0.00,-0.07,10.68,0.60:0.00,-0.06,1.01,-0.06:0.00,-0.02,9.67,0.66:0.00,0.00,0.74,0.00:0.00,0.00,0.59,0.00:0.00,0.00,0.97,0.00:60,60,60,60:22.7,12.0,5.8,54.0:0,0,0,1:0,0,0,0:110,7,70,115:40,144,81,35:30,0,37,14:-,NM_001142782.1(MAGI3) c.*82dupT:-,NOT_FOUND:-,NOT_FOUND 1 114240319 rs3835263 T TA 76 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3219,TA/0.6781;NP=3130;Gene=PHTF1/NM_006608.2/1;CC=c.*7dupT;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:TA:21:19:21:0:21:658:75.81:50.22:25.59:1.00:1.00:1.00:60:8.6:0:0:104:45:35:NM_006608.2(PHTF1) c.*7dupT,NM_006608.2(PHTF1) c.*7dupT:NOT_FOUND,NOT_FOUND:0.785064,0.785064 1 114240348 . C . . NT END=114240883;NT GT ./. 1 114240774 rs76883261 AACACACAC A 49 idl,nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=100;Gene=PHTF1/NM_006608.2/1;CC=c.2268+102_2268+109delGTGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:AACACACAC,A:15:19:0:18:1,14:34,558:0.00,48.84:0.00,48.84:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:45,60:0.0,14.6:0,4:0,0:113,47:29,103:0,20:NM_006608.2(PHTF1) c.2268+102_2268+109delGTGTGTGT,NM_006608.2(PHTF1) c.2268+102_2268+109delGTGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 114241010 . C . . NT END=114242325;NT GT ./. 1 114242422 . C . . NT END=114242654;NT GT ./. 1 114242706 rs17359468 G A 69 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.9095,A/0.09046;Gene=PHTF1/NM_006608.2/1;CC=c.2047-285C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:39:0:0:21,22:720,707:69.08,0.00:47.79,0.00:21.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,4.1:0,0:0,0:70,64:69,79:33,39:NM_006608.2(PHTF1) c.2047-285C>T,-:0.11,-:NOT_FOUND,- 1 114242866 . C . . NT END=114243415;NT GT ./. 1 114242872 rs75290614 C T 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.902,A/.,T/0.09804;PC=0.003;Gene=PHTF1/NM_006608.2/1;CC=c.2047-451G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,D:28:9:0:1:3,12,12,1:42,340,379,26:2.31,0.00,36.28,1.45:-0.22,0.00,5.93,-0.07:2.54,0.00,30.36,1.52:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:24.3,12.7,65.4,11.0:0,0,0,0:0,0,0,0:62,94,78,90:88,55,69,61:3,17,22,0:-,NM_006608.2(PHTF1) c.2047-451G>A:-,0.11:-,NOT_FOUND 1 114242873 rs78874053 A T 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.903,T/0.09704;Gene=PHTF1/NM_006608.2/1;CC=c.2047-452T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:9:0:1:15,12:459,362:0.00,33.85:0.00,5.75:0.00,28.09:0.00,1.00:0.00,0.85:0.00,1.00:60,60:15.0,65.4:0,0:0,0:86,79:64,68:22,22:-,NM_006608.2(PHTF1) c.2047-452T>A:-,0.11:-,NOT_FOUND 1 114243572 . C . . NT END=114246702;NT GT ./. 1 114246453 rs1936398 C T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3207,T/0.6793;PC=0.003;Gene=PHTF1/NM_006608.2/1;CC=c.1890+250G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:35.5:0:0:29:122:12:NM_006608.2(PHTF1) c.1890+250G>A,NM_006608.2(PHTF1) c.1890+250G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 114246790 . C . . NT END=114247287;NT GT ./. 1 114247420 . C . . NT END=114248511;NT GT ./. 1 114247446 rs56275921 G A 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.9277,A/0.07228;PC=0.264;Gene=PHTF1/NM_006608.2/1;CC=c.1672-27C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:15:0:0:10,17:306,539:27.64,0.00:8.09,0.00:19.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,15.5:0,0:0,0:98,115:46,36:28,14:NM_006608.2(PHTF1) c.1672-27C>T,-:0.07,-:0.083813,- 1 114248785 . C . . NT END=114249215;NT GT ./. 1 114249345 . C . . NT END=114252875;NT GT ./. 1 114249382 rs6698586 C T 133 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3207,T/0.6793;Gene=PHTF1/NM_006608.2/1;CC=c.1270-38G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:T:36:14:0:0:36:1160:133.12:31.74:101.38:1.00:1.00:1.00:60:42.6:0:0:84:62:31:NM_006608.2(PHTF1) c.1270-38G>A,NM_006608.2(PHTF1) c.1270-38G>A:0.65,0.65:0.778914,0.778914 1 114249473 . CTT C 7 idl,rn VT=DEL;SST=Single;DP=15;Gene=PHTF1/NM_006608.2/1;CC=c.1270-131_1270-130delAA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:CTT,T,I,C:12:1:2:6:6,2,1,3:195,46,59,140:0.00,3.46,1.73,6.95:0.00,1.50,0.00,0.00:0.00,1.96,1.73,6.95:0.00,0.00,0.00,0.55:0.00,0.00,0.00,0.47:0.00,0.00,0.00,0.55:60,60,60,60:48.5,52.0,94.0,70.3:0,0,1,2:0,0,0,0:140,100,98,70:10,44,52,68:5,37,11,33:-,NM_006608.2(PHTF1) c.1270-131_1270-130delAA:-,NOT_FOUND:-,NOT_FOUND 1 114253098 . C . . NT END=114254367;NT GT ./. 1 114254458 . C . . NT END=114254561;NT GT ./. 1 114254736 . C . . NT END=114255900;NT GT ./. 1 114255828 rs17031795 T C 90 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.89,C/0.11;Gene=PHTF1/NM_006608.2/1;CC=c.783+73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:42:0:0:28,14:880,457:89.66,0.00:82.78,0.00:6.87,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:44.1,6.8:0,0:0,0:59,50:91,100:27,42:NM_006608.2(PHTF1) c.783+73A>G,-:0.12,-:NOT_FOUND,- 1 114256061 . C . . NT END=114267380;NT GT ./. 1 114267347 rs1230640 C T 139 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.2965,T/0.7035;Gene=PHTF1/NM_006608.2/1;CC=c.623+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:T:37:30:0:0:37:1213:138.92:95.86:43.06:1.00:1.00:1.00:60:37.9:0:0:49:102:32:NM_006608.2(PHTF1) c.623+34G>A,NM_006608.2(PHTF1) c.623+34G>A:0.67,0.67:0.805321,0.805321 1 114267516 . C . . NT END=114269039;NT GT ./. 1 114267645 rs1981319 C A 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3207,A/0.6793;Gene=PHTF1/NM_006608.2/1;CC=c.489-130G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:1:0:0:18:605:69.08:2.04:67.04:1.00:1.00:1.00:60:37.7:0:0:107:43:26:NM_006608.2(PHTF1) c.489-130G>T,NM_006608.2(PHTF1) c.489-130G>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 114269197 . C . . NT END=114280731;NT GT ./. 1 114280717 rs2273758 A C 81 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4429,C/0.5571;Gene=PHTF1/NM_006608.2/1;CC=c.331+15T>G;VC=Intron;DM=PHTF1/Phtf-FEM1B_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:46:41:0:0:20,26:634,826:0.00,81.33:0.00,64.84:0.00,16.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,38.2:0,0:0,0:44,39:90,107:31,24:-,NM_006608.2(PHTF1) c.331+15T>G:-,0.51:-,0.662233 1 114280891 . C . . NT END=114281351;NT GT ./. 1 114281422 . C . . NT END=114289479;NT GT ./. 1 114289569 . t . . NT END=114300320;NT GT ./. 1 114300378 . C . . NT END=114301280;NT GT ./. 1 114301136 rs566478442 C CTT 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;Gene=PHTF1/NM_006608.2/1;CC=c.45+143_45+144dupAA;VC=Intron;DM=PHTF1/Phtf-FEM1B_bdg;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTT:3:4:4:0:3:126:10.36:10.36:0.00:0.85:0.85:0.00:60:111.0:1:0:11:135:8:NM_006608.2(PHTF1) c.45+144_45+145insAA,NM_006608.2(PHTF1) c.45+144_45+145insAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 114301564 rs6695952 G T 256 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=180;DB;DBA=NA;PAF=G/0.9936,T/0.00639;NP=17;Gene=PHTF1/NM_006608.2/1;CC=c.-239C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:180:127:0:0:96,84:3004,2697:0.00,255.78:0.00,141.26:0.00,114.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,43.5:0,0:0,0:64,81:82,69:27,48:-,NM_006608.2(PHTF1) c.-239C>A:-,0.01:-,NOT_FOUND 1 114301714 . G . . NT END=114308601;NT GT ./. 1 114309076 . C . . NT END=114309720;NT GT ./. 1 114309172 rs1935836 C T 117 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.3301,T/0.6699;Gene=RSBN1/NM_018364.4/1;CC=c.1936-97G>A;VC=Intron;Gene=RSBN1/NR_130896.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:1:0:0:32:1019:117.15:1.59:115.57:1.00:1.00:1.00:60:41.8:0:0:117:33:25:NM_018364.3(RSBN1) c.1936-97G>A,NM_018364.3(RSBN1) c.1936-97G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 114309830 . C . . NT END=114310843;NT GT ./. 1 114311012 . C . . NT END=114319831;NT GT ./. 1 114319975 . C . . NT END=114320292;NT GT ./. 1 114320431 . C . . NT END=114339984;NT GT ./. 1 114339956 rs34169583 C CTAAA 109 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2985,CATAA/.,CCAAA/.,CTAAA/0.7015;NP=784;Gene=RSBN1/NM_018364.4/1;CC=c.1377+28_1377+29insTTTA;VC=Intron;Gene=RSBN1/NR_130896.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C,CTAAA:31:27:30:0:1,30:34,962:0.00,108.58:0.00,82.34:0.00,26.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.0,5.0:0,0:0,0:141,49:4,99:0,23:NM_018364.3(RSBN1) c.1377+28_1377+29insTTTA,NM_018364.3(RSBN1) c.1377+28_1377+29insTTTA:0.65,0.65:0.790849,0.790849 1 114340659 . C . . NT END=114354331;NT GT ./. 1 114342187 . TACAC T 17 rn VT=DEL;SST=Single;DP=7;NP=5;Gene=RSBN1/NM_018364.4/1;CC=c.704-1533_704-1530delGTGT;VC=Intron;Gene=RSBN1/NR_130896.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:TACAC,T:6:6:0:6:1,5:33,192:0.00,16.91:0.00,11.91:0.00,5.00:0.00,0.98:0.00,1.00:0.00,0.93:60,60:11.0,4.8:0,1:0,0:91,53:40,82:0,14:-,NM_018364.3(RSBN1) c.704-1533_704-1530delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 114354654 rs3195954 T C 230 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=189;DB;DBA=NA;PAF=T/0.8782,C/0.1218;PC=0.126;Gene=RSBN1/NM_018364.4/1;CC=c.381A>G;ProtCh=p.P127=;VC=Silent;Gene=RSBN1/NR_130896.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:189:127:0:0:80,109:2482,3379:230.35,0.00:123.20,0.00:107.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,13.5:0,0:0,0:80,73:65,70:40,40:NM_018364.3(RSBN1) c.381A>G (p.(=)),-:0.15,-:0.125201,- 1 114354942 rs3789604 T G 247 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=T/0.8662,C/.,G/0.1338;PC=0.001;Gene=RSBN1/NM_018364.4/1;CC=c.93A>C;ProtCh=p.R31=;VC=Silent;Gene=RSBN1/NR_130896.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:176:107:0:0:77,99:2621,3074:246.51,0.00:109.18,0.00:137.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,16.5:0,0:0,0:85,72:66,78:35,40:NM_018364.3(RSBN1) c.93A>C (p.(=)),-:0.16,-:0.148767,- 1 114355035 . G . . NT END=114357526;NT GT ./. 1 114357592 . C . . NT END=114362198;NT GT ./. 1 114357750 rs1217413 G A 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2504,A/0.7496;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.2276-159C>T;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.2288-159C>T;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.2195-159C>T;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.2360-159C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:365:41.75:0.00:41.75:1.00:0.00:1.00:60:45.4:0:0:88:63:25:NM_015967.5(PTPN22) c.2360-159C>T,NM_015967.5(PTPN22) c.2360-159C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 114362277 . C . . NT END=114367763;NT GT ./. 1 114367588 rs35424386 C CA 6 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.004;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.2197+175_2197+176insT;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.2209+175_2209+176insT;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.2116+175_2116+176insT;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.2281+175_2281+176insT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,CA,D:5:6:2:2:2,2,1:70,67,38:0.00,6.35,0.48:0.00,6.35,0.48:0.00,0.00,0.00:0.00,0.89,0.00:0.00,0.89,0.00:0.00,0.00,0.00:60,60,60:87.0,16.5,206.0:0,0,1:0,0,0:78,54,8:72,76,142:64,26,1:-,NM_015967.5(PTPN22) c.2281+175_2281+176insT:-,NOT_FOUND:-,NOT_FOUND 1 114367795 . C . . NT END=114372213;NT GT ./. 1 114372330 . C . . NT END=114372570;NT GT ./. 1 114372332 rs57877024 TA T 34 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=382;PC=0.006;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.2051-4delT;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.2063-4delT;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.1970-4delT;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.2135-4delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:TA,I,T:18:12:1:11:6,1,11:171,30,337:0.00,2.08,34.13:0.00,-0.08,16.14:0.00,2.15,18.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:59.0,0.0,21.8:0,0,0:0,0,0:79,86,103:60,63,48:11,0,22:-,NM_015967.5(PTPN22) c.2135-4delT:-,NOT_FOUND:-,NOT_FOUND 1 114372528 rs3761935 T G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.8666,G/0.1334;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.2050+43A>C;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.2062+43A>C;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.1969+43A>C;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.2134+43A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:12:0:0:8,11:273,343:25.50,0.00:14.47,0.00:11.03,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:38.4,37.6:0,0:0,0:48,71:102,80:33,46:NM_015967.5(PTPN22) c.2134+43A>C,-:0.16,-:0.152083,- 1 114372652 . C . . NT END=114375732;NT GT ./. 1 114375761 . C . . NT END=114376930;NT GT ./. 1 114377062 . C . . NT END=114377531;NT GT ./. 1 114377093 rs1599971 A G 136 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.2987,C/.,G/0.7013;PC=0.638;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.1895-32T>C;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.1823-32T>C;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.1730-32T>C;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.1895-32T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G,T:39:12:0:0:38,1:1182,12:135.79,0.33:28.14,0.00:107.64,0.33:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,170.0:0,0:0,0:123,20:27,126:20,0:NM_015967.5(PTPN22) c.1895-32T>C,NM_015967.5(PTPN22) c.1895-32T>C:0.66,0.66:0.802676,0.802676 1 114377568 rs2476601 A G 106 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=in-clinvar;PAF=A/0.02736,G/0.9726;PC=0.969;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.1858T>C;ProtCh=p.W620R;VC=Missense;Gene=PTPN22/NM_001308297.1/0;CC=c.1786T>C;ProtCh=p.W596R;VC=Missense;Gene=PTPN22/NM_012411.5/0;CC=c.1693T>C;ProtCh=p.W565R;VC=Missense;Gene=PTPN22/NM_015967.6/1;CC=c.1858T>C;ProtCh=p.W620R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:22:0:0:29:925:106.27:53.84:52.43:1.00:1.00:1.00:60:35.9:0:0:53:87:24:NM_015967.5(PTPN22) c.=,NM_015967.5(PTPN22) c.=:0.96,0.96:0.931647,0.931647 1 114377616 . C . . NT END=114380211;NT GT ./. 1 114381030 . C . . NT END=114381165;NT GT ./. 1 114381243 . C . . NT END=114391161;NT GT ./. 1 114391249 . C . . NT END=114394648;NT GT ./. 1 114394727 . C . . NT END=114397092;NT GT ./. 1 114397160 . C . . NT END=114397528;NT GT ./. 1 114397672 . C . . NT END=114399003;NT GT ./. 1 114397788 rs3789608 C T 11 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8658,T/0.1342;PC=0.002;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.541-117G>A;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.469-117G>A;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.541-117G>A;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.541-117G>A;VC=Intron;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:7:1:0:0:3,4:102,109:0.00,10.72:0.00,1.77:0.00,8.95:0.00,0.90:0.00,0.71:0.00,0.90:60,60:37.7,29.5:0,0:0,0:105,146:45,2:17,2:-,NM_015967.5(PTPN22) c.541-117G>A:-,0.16:-,NOT_FOUND 1 114397799 rs3789609 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8045,T/0.1955;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.541-128G>A;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.469-128G>A;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.541-128G>A;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.541-128G>A;VC=Intron;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:5:0:0:0:2,3:64,103:0.00,10.27:0.00,0.00:0.00,10.27:0.00,0.78:0.00,0.00:0.00,0.78:60,60:25.5,37.7:0,0:0,0:110,116:40,34:39,17:-,NM_015967.5(PTPN22) c.541-128G>A:-,0.17:-,NOT_FOUND 1 114398821 rs35173468 G C 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8658,C/0.1342;PC=0.016;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.540+183C>G;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.468+183C>G;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.540+183C>G;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.540+183C>G;VC=Intron;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G:5:5:0:0:2,3:69,106:6.39,0.00:4.71,0.00:1.68,0.00:0.46,0.00:0.46,0.00:0.70,0.00:60,60:71.5,21.0:0,0:0,0:55,45:67,104:13,35:NM_015967.5(PTPN22) c.540+183C>G,-:0.16,-:NOT_FOUND,- 1 114399064 . C . . NT END=114399169;NT GT ./. 1 114399242 . C . . NT END=114400359;NT GT ./. 1 114400195 rs541263678 G GA 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1234;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.408+164dupT;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.408+164dupT;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.408+164dupT;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.408+164dupT;VC=Intron;Gene=AP4B1-AS1/NR_037864.1/0;VC=NonCoding;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:G,GA:7:7:3:0:4,3:101,88:0.00,8.16:0.00,8.16:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:15.8,15.0:0,0:0,0:58,30:91,121:8,0:-,NR_037864.1(AP4B1-AS1) n.138dupA:-,NOT_FOUND:-,NOT_FOUND 1 114400399 . C . . NT END=114401099;NT GT ./. 1 114401196 . C . . NT END=114401623;NT GT ./. 1 114401231 rs1217418 A G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4846,G/0.5154;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.274-36T>C;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.274-36T>C;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.274-36T>C;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.274-36T>C;VC=Intron;Gene=AP4B1-AS1/NR_037864.1/0;VC=NonCoding;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:9:0:0:11,8:364,229:0.00,21.08:0.00,12.83:0.00,8.25:0.00,0.99:0.00,0.99:0.00,1.00:60,60:12.6,41.4:0,0:0,0:104,79:47,72:18,40:-,NM_015967.5(PTPN22) c.274-36T>C:-,0.47:-,0.591826 1 114401701 . C . . NT END=114401973;NT GT ./. 1 114401904 rs1217419 T G 30 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.488,G/0.512;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=PTPN22/NM_001193431.2/0;CC=c.196+70A>C;VC=Intron;Gene=PTPN22/NM_001308297.1/0;CC=c.196+70A>C;VC=Intron;Gene=PTPN22/NM_012411.5/0;CC=c.196+70A>C;VC=Intron;Gene=PTPN22/NM_015967.6/1;CC=c.196+70A>C;VC=Intron;Gene=AP4B1-AS1/NR_037864.1/0;VC=NonCoding;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase;DM=PTPN22/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:17:12:0:0:9,8:308,242:30.02,0.00:31.66,0.00:-1.64,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:34.2,20.4:0,0:0,0:42,84:109,66:28,42:NM_015967.5(PTPN22) c.196+70A>C,-:0.46,-:NOT_FOUND,- 1 114402083 . C . . NT END=114414158;NT GT ./. 1 114414246 . G . . NT END=114424100;NT GT ./. 1 114424077 rs2296176 G A 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.878,A/0.122,C/.;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=AP4B1-AS1/NR_037864.1/0;VC=NonCoding;Gene=BCL2L15/NM_001010922.2/1;CC=c.475-315C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:31:0:0:13,20:451,598:41.74,0.00:33.52,0.00:8.22,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:35.6,8.7:0,0:0,0:41,47:110,95:9,25:NM_001010922.2(BCL2L15) c.475-315C>T,-:0.13,-:NOT_FOUND,- 1 114424601 rs1217381 C T 260 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.000599,T/0.9994;NP=3469;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=AP4B1-AS1/NR_037864.1/0;VC=NonCoding;Gene=BCL2L15/NM_001010922.2/1;CC=c.268G>A;ProtCh=p.D90N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:72:27:0:0:72:2256:259.80:74.62:185.17:1.00:1.00:1.00:60:37.2:0:0:100:49:33:NM_001010922.2(BCL2L15) c.268G>A (p.Asp90Asn),NM_001010922.2(BCL2L15) c.268G>A (p.Asp90Asn):1,1:0.999846,0.999846 1 114424620 . C . . NT END=114429158;NT GT ./. 1 114429281 . C . . NT END=114429870;NT GT ./. 1 114430059 . A . . NT END=114437686;NT GT ./. 1 114438115 . C . . NT END=114438378;NT GT ./. 1 114438661 . C . . NT END=114438879;NT GT ./. 1 114439088 . C . . NT END=114440461;NT GT ./. 1 114440566 . C . . NT END=114440571;NT GT ./. 1 114440669 . C . . NT END=114441339;NT GT ./. 1 114441424 . C . . NT END=114441746;NT GT ./. 1 114441975 . C . . NT END=114442525;NT GT ./. 1 114442355 rs397841354 C CA 36 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8778,CA/0.1222;DB;DBA=NA;PAF=C/0.8778,CA/0.1222;NP=492;PC=0.001;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=AP4B1-AS1/NR_037864.1/0;VC=NonCoding;Gene=AP4B1/NM_001253852.2/0;CC=c.1114+170dupT;VC=Intron;Gene=AP4B1/NM_001308312.1/0;CC=c.610+170dupT;VC=Intron;Gene=AP4B1/NM_001253853.2/0;CC=c.817+170dupT;VC=Intron;Gene=AP4B1/NM_006594.4/1;CC=c.1114+170dupT;VC=Intron;DM=AP4B1/Adaptin_N;DM=AP4B1/Adaptin_N;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,C,CA:15:15:11:0:1,3,11:25,104,340:1.72,0.00,36.04:1.72,0.00,36.04:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:90.0,34.0,20.5:0,0,0:0,0,0:13,109,9:133,42,139:0,33,6:-,NM_006594.3(AP4B1) c.1114+170_1114+171insT:-,0.15:-,NOT_FOUND 1 114443023 . C . . NT END=114443857;NT GT ./. 1 114443035 rs3789613 C G 131 nt VT=SNV;PN=A;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.6344,G/0.3656,T/.;Gene=AP4B1-AS1/NR_125965.1/0;VC=NonCoding;Gene=AP4B1-AS1/NR_037864.1/0;VC=NonCoding;Gene=AP4B1/NM_001253852.2/0;CC=c.618-13G>C;VC=Intron;Gene=AP4B1/NM_001308312.1/0;CC=c.114-13G>C;VC=Intron;Gene=AP4B1/NM_001253853.2/0;CC=c.321-13G>C;VC=Intron;Gene=AP4B1/NM_006594.4/1;CC=c.618-13G>C;VC=Intron;DM=AP4B1/Adaptin_N;DM=AP4B1/Adaptin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:87:31:0:0:44,43:1455,1364:0.00,130.68:0.00,30.86:0.00,99.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,43.8:0,0:0,0:84,90:61,60:39,28:-,NR_037864.1(AP4B1-AS1) n.910C>G:-,0.42:-,0.286944 1 114443899 rs17464525 G A 76 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.8776,A/0.1224;Gene=AP4B1/NM_001253852.2/0;CC=c.576C>T;ProtCh=p.G192=;VC=Silent;Gene=AP4B1/NM_001308312.1/0;CC=c.114-877C>T;VC=Intron;Gene=AP4B1/NM_001253853.2/0;CC=c.279C>T;ProtCh=p.G93=;VC=Silent;Gene=AP4B1/NM_006594.4/1;CC=c.576C>T;ProtCh=p.G192=;VC=Silent;DM=AP4B1/Adaptin_N;DM=AP4B1/Adaptin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:46:0:0:27,41:829,1327:75.97,0.00:41.13,0.00:34.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,4.9:0,0:0,0:71,54:80,93:26,26:NM_006594.3(AP4B1) c.576C>T (p.(=)),-:0.14,-:0.157773,- 1 114444006 . C . . NT END=114444376;NT GT ./. 1 114444508 . C . . NT END=114445259;NT GT ./. 1 114445485 . C . . NT END=114447226;NT GT ./. 1 114447034 rs6661817 G C 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.631,C/0.369;PC=0.001;Gene=AP4B1/NM_001253852.2/0;CC=c.113+193C>G;VC=Intron;Gene=AP4B1/NM_001308312.1/0;CC=c.113+193C>G;VC=Intron;Gene=AP4B1/NM_001253853.2/0;CC=c.-57+193C>G;VC=Intron;Gene=AP4B1/NM_006594.4/1;CC=c.113+193C>G;VC=Intron;DM=AP4B1/Adaptin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,G:11:11:0:0:7,4:207,123:20.89,0.00:20.89,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:57.0,0.0:0,0:0,0:57,42:94,108:38,5:NM_006594.3(AP4B1) c.113+193C>G,-:0.42,-:NOT_FOUND,- 1 114447340 . C . . NT END=114448208;NT GT ./. 1 114448398 . G . . NT END=114449617;NT GT ./. 1 114449784 . G . . NT END=114450630;NT GT ./. 1 114449856 rs55868414 T TA 13 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=142;NP=3;Gene=DCLRE1B/NM_022836.3/1;CC=c.355+75_355+76insA;VC=Intron;DM=DCLRE1B/Lactamase_B_2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,T,TA:30:5:6:0:3,22,5:97,634,193:7.12,0.00,12.85:-0.18,0.00,-0.30:7.30,0.00,13.16:0.00,0.00,0.80:0.00,0.00,0.57:0.00,0.00,0.97:60,60,60:41.7,54.5,64.8:0,0,1:0,0,0:137,128,134:14,13,11:9,18,7:-,NM_022836.3(DCLRE1B) c.355+73_355+74insA:-,NOT_FOUND:-,NOT_FOUND 1 114450814 . G . . NT END=114453752;NT GT ./. 1 114454814 . A . . NT END=114471943;NT GT ./. 1 114462538 rs60630052 TCTCA T 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=84;PC=0.023;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TCTCA,T:5:4:0:4:2,3:64,118:0.00,8.93:0.00,4.51:0.00,4.41:0.00,0.73:0.00,0.51:0.00,0.89:60,60:0.0,18.3:1,1:0,0:68,52:73,98:60,30:-,chr1 g.114462539_114462542delCTCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 114472155 . G . . NT END=114472363;NT GT ./. 1 114472218 rs1217441 A G 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.2127,G/0.7873;PC=1.000;Gene=HIPK1/NM_152696.3/0;CC=c.-3+64A>G;VC=Intron;Gene=HIPK1/NM_198268.2/1;CC=c.-3+64A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:50:22:0:0:26,1,23:789,10,764:0.00,-0.05,72.67:0.00,0.07,18.94:0.00,-0.12,53.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.0,109.0,52.3:0,0,0:0,0,0:64,68,107:79,64,43:34,0,25:-,NM_198268.2(HIPK1) c.-3+64A>G:-,0.8:-,NOT_FOUND 1 114472562 . G . . NT END=114475761;NT GT ./. 1 114472650 rs756493 C T 159 nt VT=SNV;PN=C;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.7504,T/0.2496;Gene=HIPK1/NM_152696.3/0;CC=c.-3+496C>T;VC=Intron;Gene=HIPK1/NM_198268.2/1;CC=c.-3+496C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:54:0:0:56,51:1825,1664:0.00,158.53:0.00,58.65:0.00,99.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,39.1:0,0:0,0:99,97:44,52:26,24:-,NM_198268.2(HIPK1) c.-3+496C>T:-,0.27:-,NOT_FOUND 1 114475857 . g . . NT END=114483003;NT GT ./. 1 114484082 . G . . NT END=114493766;NT GT ./. 1 114493583 rs11102707 G A 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8109,A/0.1891;PC=0.028;Gene=HIPK1/NM_152696.3/0;CC=c.1077-1805G>A;VC=Intron;Gene=HIPK1/NM_198268.2/1;CC=c.1077-1805G>A;VC=Intron;DM=HIPK1/Pkinase;DM=HIPK1/Pkinase;DM=HIPK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,G:7:7:0:0:5,2:165,56:17.07,0.00:17.07,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:52.0,0.0:0,0:0,0:18,50:133,99:15,19:NM_198268.2(HIPK1) c.1077-1805G>A,-:0.23,-:NOT_FOUND,- 1 114493915 . G . . NT END=114495387;NT GT ./. 1 114495348 rs369231621 G GT 16 rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=17;PC=0.917;Gene=HIPK1/NM_152696.3/0;CC=c.1077-27dupT;VC=Intron;Gene=HIPK1/NM_198268.2/1;CC=c.1077-27dupT;VC=Intron;Gene=HIPK1/NM_198269.2/0;CC=c.-46-27dupT;VC=Intron;DM=HIPK1/Pkinase;DM=HIPK1/Pkinase;DM=HIPK1/Pkinase;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:G,T,GT,D:56:48:9:1:46,1,8,1:1426,11,257,25:0.00,-0.16,16.41,0.89:0.00,-0.29,7.03,0.97:0.00,0.13,9.38,-0.07:0.00,0.00,0.95,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.89,0.00:60,60,70,60:18.8,11.0,26.9,51.0:0,0,1,0:0,0,0,0:42,25,69,64:93,126,82,87:27,0,23,0:-,NM_198268.2(HIPK1) c.1077-40_1077-39insT:-,NOT_FOUND:-,NOT_FOUND 1 114495512 . G . . NT END=114497247;NT GT ./. 1 114497393 . G . . NT END=114498184;NT GT ./. 1 114498272 . G . . NT END=114499248;NT GT ./. 1 114499434 . G . . NT END=114499745;NT GT ./. 1 114499909 . G . . NT END=114500687;NT GT ./. 1 114500914 . G . . NT END=114504938;NT GT ./. 1 114504860 rs41302825 G A 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7486,A/0.2514;PC=0.001;Gene=HIPK1/NM_152696.3/0;CC=c.1982-79G>A;VC=Intron;Gene=HIPK1/NM_198268.2/1;CC=c.1982-79G>A;VC=Intron;Gene=HIPK1/NM_198269.2/0;CC=c.860-79G>A;VC=Intron;Gene=HIPK1/NM_181358.2/0;CC=c.800-79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:32:0:0:17,16:534,554:51.58,0.00:45.97,0.00:5.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,0.0:0,0:0,0:75,39:75,108:41,20:NM_198268.2(HIPK1) c.1982-79G>A,-:0.26,-:NOT_FOUND,- 1 114505000 rs17852555 G A 82 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.7626,A/0.2374;PC=0.002;Gene=HIPK1/NM_152696.3/0;CC=c.2043G>A;ProtCh=p.P681=;VC=Silent;Gene=HIPK1/NM_198268.2/1;CC=c.2043G>A;ProtCh=p.P681=;VC=Silent;Gene=HIPK1/NM_198269.2/0;CC=c.921G>A;ProtCh=p.P307=;VC=Silent;Gene=HIPK1/NM_181358.2/0;CC=c.861G>A;ProtCh=p.P287=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:38:0:0:27,30:867,927:82.48,0.00:38.23,0.00:44.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,6.7:0,0:0,0:96,62:55,86:33,33:NM_198268.2(HIPK1) c.2043G>A (p.(=)),-:0.25,-:0.270644,- 1 114505061 . G . . NT END=114506008;NT GT ./. 1 114506144 . G . . NT END=114508751;NT GT ./. 1 114508895 . G . . NT END=114510387;NT GT ./. 1 114510571 . G . . NT END=114511063;NT GT ./. 1 114511271 . G . . NT END=114512577;NT GT ./. 1 114512820 . G . . NT END=114514445;NT GT ./. 1 114512939 rs3811018 A T 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2113,T/0.7887;PC=0.001;Gene=HIPK1/NM_152696.3/0;CC=c.3013+120A>T;VC=Intron;Gene=HIPK1/NM_198268.2/1;CC=c.3013+120A>T;VC=Intron;Gene=HIPK1/NM_198269.2/0;CC=c.1891+120A>T;VC=Intron;Gene=HIPK1/NM_181358.2/0;CC=c.1831+120A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,T:28:4:0:0:21,7:624,213:0.00,17.81:0.00,3.15:0.00,14.66:0.00,0.96:0.00,0.69:0.00,0.96:60,60:9.1,36.3:0,0:0,0:117,85:34,63:16,49:-,NM_198268.2(HIPK1) c.3013+120A>T:-,0.81:-,NOT_FOUND 1 114514696 . T . . NT END=114515645;NT GT ./. 1 114516135 . T . . NT END=114522138;NT GT ./. 1 114516330 rs10108 C T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8057,T/0.1943;PC=0.930;Gene=HIPK1/NM_198268.2/1;CC=c.*196C>T;VC=3UTR;Gene=HIPK1/NM_198269.2/0;CC=c.*196C>T;VC=3UTR;Gene=HIPK1/NM_181358.2/0;CC=c.*196C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:7:0:0:0:2,5:65,126:0.00,13.13:0.00,0.00:0.00,13.13:0.00,0.98:0.00,0.00:0.00,0.98:60,60:95.5,68.0:0,0:0,0:117,36:24,115:15,31:-,NM_198268.2(HIPK1) c.*196C>T:-,0.23:-,NOT_FOUND 1 114522253 . G . . NT END=114522596;NT GT ./. 1 114522749 . G . . NT END=114522824;NT GT ./. 1 114523240 . G . . NT END=114523570;NT GT ./. 1 114524392 . G . . NT END=114634632;NT GT ./. 1 114634367 . CT C,CTT 17 idl,nt VT=INS;SST=Single;DP=7;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:23:CTT,C:6:7:6:1:5,1:179,33:17.05,2.93:17.05,2.93:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:67.6,43.0:1,0:0,0:61,31:85,120:36,0:NM_001270805.1(SYT6) c.*378A[10],NM_001270805.1(SYT6) c.*388dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 114634485 rs1053135 T C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6256,C/0.3744;PC=1.000;Gene=SYT6/NM_205848.3/0;CC=c.*271A>G;VC=3UTR;Gene=SYT6/NM_001270805.1/1;CC=c.*271A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:28:28:0:0:1,12,15:13,349,489:0.24,32.55,0.00:0.24,32.55,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:95.0,41.8,4.2:0,0,0:0,0,0:133,75,45:18,76,104:0,20,21:NM_001270805.1(SYT6) c.*271A>G,-:0.39,-:NOT_FOUND,- 1 114634705 . C . . NT END=114636356;NT GT ./. 1 114634827 rs78839080 T A 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.9926,A/0.007388;PC=0.208;Gene=SYT6/NM_205848.3/0;CC=c.*52-123A>T;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.*52-123A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:37:0:0:0:16,21:506,678:47.24,0.00:0.00,0.00:47.24,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.4,2.9:0,0:0,0:111,94:39,56:16,37:NM_001270805.1(SYT6) c.*52-123A>T,-:0.01,-:NOT_FOUND,- 1 114634933 rs35257020 ACTCT A 10 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=95;PC=0.008;Gene=SYT6/NM_205848.3/0;CC=c.*52-233_*52-230delAGAG;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.*52-233_*52-230delAGAG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:ACTCT,A:9:1:0:4:5,4:128,107:0.00,9.93:0.00,3.52:0.00,6.41:0.00,0.85:0.00,0.63:0.00,0.98:60,70:23.2,24.5:0,0:0,0:134,78:16,73:1,9:-,NM_001270805.1(SYT6) c.*52-233_*52-230delAGAG:-,NOT_FOUND:-,NOT_FOUND 1 114636226 rs1079093 C T 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6258,T/0.3742;PC=0.037;Gene=SYT6/NM_205848.3/0;CC=c.*51+131G>A;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.*51+131G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:14:0:0:7,7:241,220:0.00,21.12:0.00,21.12:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:1.1,69.3:0,0:0,0:53,53:97,97:20,53:-,NM_001270805.1(SYT6) c.*51+131G>A:-,0.39:-,NOT_FOUND 1 114636233 rs144796081 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=7;Gene=SYT6/NM_205848.3/0;CC=c.*51+124G>A;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.*51+124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:15:0:0:8,7:272,203:0.00,19.11:0.00,19.11:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:1.0,69.3:0,0:0,0:50,60:100,90:26,53:-,NM_001270805.1(SYT6) c.*51+124G>A:-,0.0009:-,NOT_FOUND 1 114636426 . C . . NT END=114640348;NT GT ./. 1 114636635 rs1077884 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6228,C/0.3772;Gene=SYT6/NM_205848.3/0;CC=c.1261-210A>G;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.1261-210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,T:5:0:0:0:3,2:72,59:7.13,0.00:0.00,0.00:7.13,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:25.7,30.0:0,0:0,0:116,100:35,50:6,20:NM_001270805.1(SYT6) c.1261-210A>G,-:0.39,-:NOT_FOUND,- 1 114640206 rs669011 C T 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8448,G/.,T/0.1552;Gene=SYT6/NM_205848.3/0;CC=c.1260+143G>A;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.1260+143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:11,17:362,521:0.00,52.08:0.00,52.08:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.5,33.2:0,0:0,0:54,29:96,121:27,22:-,NM_001270805.1(SYT6) c.1260+143G>A:-,0.15:-,NOT_FOUND 1 114640500 . C . . NT END=114641715;NT GT ./. 1 114640767 rs2774286 C G 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8444,G/0.1556;PC=0.008;Gene=SYT6/NM_205848.3/0;CC=c.1110-268G>C;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.1110-268G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,G:7:0:0:0:1,6:22,199:0.00,21.52:0.00,0.00:0.00,21.52:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.0,33.2:0,0:0,0:2,109:148,42:0,19:-,NM_001270805.1(SYT6) c.1110-268G>C:-,0.15:-,NOT_FOUND 1 114641685 rs2774285 A G 179 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.1422,G/0.8578;Gene=SYT6/NM_205848.3/0;CC=c.1109+31T>C;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.1109+31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:42:0:0:48:1562:179.03:127.35:51.69:1.00:1.00:1.00:60:39.8:0:0:45:104:21:NM_001270805.1(SYT6) c.1109+31T>C,NM_001270805.1(SYT6) c.1109+31T>C:0.83,0.83:0.814086,0.814086 1 114641888 . C . . NT END=114646222;NT GT ./. 1 114646344 . C . . NT END=114680116;NT GT ./. 1 114646489 rs750905 C T 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.845,T/0.155;PC=0.001;Gene=SYT6/NM_205848.3/0;CC=c.817-146G>A;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.817-146G>A;VC=Intron;DM=SYT6/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:3:0:0:19,14:597,435:0.00,40.39:0.00,6.81:0.00,33.58:0.00,1.00:0.00,0.82:0.00,1.00:60,60:2.4,31.9:0,0:0,0:121,106:30,44:13,22:-,NM_001270805.1(SYT6) c.817-146G>A:-,0.16:-,NOT_FOUND 1 114680310 rs41274114 G A 559 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=G/0.8353,A/0.1647;PC=1.000;Gene=SYT6/NM_205848.3/0;CC=c.623C>T;ProtCh=p.T208I;VC=Missense;Gene=SYT6/NM_001270805.1/1;CC=c.623C>T;ProtCh=p.T208I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:156:106:0:0:155,1:4869,10:558.67,0.00:293.61,0.00:265.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,14.0:0,0:0,0:74,13:72,137:33,0:NM_001270805.1(SYT6) c.623C>T (p.Thr208Ile),NM_001270805.1(SYT6) c.623C>T (p.Thr208Ile):0.17,0.17:0.184838,0.184838 1 114680676 . C . . NT END=114682236;NT GT ./. 1 114681932 rs2629808 T C 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.08786,C/0.9121;Gene=SYT6/NM_205848.3/0;CC=c.257+305A>G;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.257+305A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:144:16.75:16.75:0.00:1.00:1.00:0.00:60:77.2:0:0:6:145:5:NM_001270805.1(SYT6) c.257+305A>G,NM_001270805.1(SYT6) c.257+305A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 114682001 rs734928 A C 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7973,C/0.2027;Gene=SYT6/NM_205848.3/0;CC=c.257+236T>G;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.257+236T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:368:42.98:42.98:0.00:1.00:1.00:0.00:60:75.2:0:0:60:90:15:NM_001270805.1(SYT6) c.257+236T>G,NM_001270805.1(SYT6) c.257+236T>G:0.2,0.2:NOT_FOUND,NOT_FOUND 1 114682494 . C . . NT END=114940269;NT GT ./. 1 114682780 rs2774303 G C 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.2871,C/0.7129;Gene=SYT6/NM_205848.3/0;CC=c.-9-278C>G;VC=Intron;Gene=SYT6/NM_001270805.1/1;CC=c.-9-278C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:2:0:0:10:289:33.64:5.92:27.73:1.00:1.00:1.00:60:58.0:0:0:98:53:35:NM_001270805.1(SYT6) c.-9-278C>G,NM_001270805.1(SYT6) c.-9-278C>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 114767847 rs3075640 C CGTGTGT 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,CGTGTGT:4:4:3:0:1,3:33,85:0.00,8.95:0.00,5.40:0.00,3.55:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,58.7:0,0:0,0:102,82:37,69:0,6:-,chr1 g.114767847_114767848insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 114784733 rs680581 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3203,G/0.6797;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:117:13.61:13.61:0.00:1.00:1.00:0.00:60:50.0:0:0:10:140:6:chr1 g.114784732A>G (intergenic),chr1 g.114784732A>G (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 1 114784900 rs681419 T C 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.1176,C/0.8824;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:22:0:0:23:730:83.96:80.28:3.68:1.00:1.00:1.00:60:44.0:0:0:75:71:30:chr1 g.114784899T>C (intergenic),chr1 g.114784899T>C (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 1 114785156 rs7518283 A G 483 nt VT=SNV;PN=C;NN=C;SST=Single;DP=159;DB;DBA=NA;PAF=A/0.1182,G/0.8818;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T,D:159:103:0:1:5,2,149,2,1:71,26,4229,36,17:0.00,0.45,483.28,1.15,0.26:0.00,0.27,234.77,-0.02,-0.01:0.00,0.18,248.51,1.17,0.27:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:60,60,60,60,30:96.2,111.0,68.7,137.5,154.0:0,0,0,0,0:0,0,0,0,0:64,81,80,46,33:43,36,52,98,115:26,4,42,28,0:chr1 g.114785155A>G (intergenic),chr1 g.114785155A>G (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 1 114785255 rs182953072 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=A/0.8337,G/0.1663;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,C,G:111:54:0:0:97,2,12:2500,20,256:0.00,-0.40,15.50:0.00,-0.16,4.37:0.00,-0.24,11.13:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:64.2,78.0,84.5:0,0,1:0,0,0:97,90,82:37,58,27:20,39,17:-,chr1 g.114785254A>G (intergenic):-,0.14:-,NOT_FOUND 1 114785287 . A G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=82;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,C,G,T:82:23:0:0:66,4,10,2:1600,56,189,26:0.00,1.37,11.16,0.05:0.00,-0.30,1.71,-0.15:0.00,1.67,9.45,0.20:0.00,0.00,0.98,0.00:0.00,0.00,0.88,0.00:0.00,0.00,1.00,0.00:60,60,60,60:51.0,118.8,137.3,64.0:0,0,0,0:0,0,0,0:115,48,78,57:25,102,67,92:21,22,13,55:-,chr1 g.114785286A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 114785327 . A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,C,G,T:51:12:0:0:39,3,8,1:978,50,134,10:0.00,2.00,8.09,-0.16:0.00,0.45,1.51,-0.06:0.00,1.55,6.58,-0.10:0.00,0.00,0.96,0.00:0.00,0.00,0.81,0.00:0.00,0.00,1.00,0.00:60,60,60,17:59.9,146.0,103.1,196.0:0,0,0,0:0,0,0,0:103,68,68,108:43,82,56,43:30,15,36,0:-,chr1 g.114785326A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 114785628 rs116729352 C T 54 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.513,T/0.487;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:1:0:0:15:467:53.82:1.94:51.88:1.00:1.00:1.00:60:69.9:0:0:115:36:28:chr1 g.114785627C>T (intergenic),chr1 g.114785627C>T (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 114785689 rs141698403 G A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.513,A/0.487;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:2:0:0:11:294:34.59:5.47:29.12:1.00:1.00:1.00:60:84.5:0:0:86:31:61:chr1 g.114785688G>A (intergenic),chr1 g.114785688G>A (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 114797241 rs72080297 TACAC T 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.003;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:4:3:130:10.86:7.40:3.45:0.85:0.99:0.99:70:24.3:1:0:51:90:25:chr1 g.114797242_114797245delACAC (intergenic),chr1 g.114797242_114797245delACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 114940215 rs71662877 T TG 21 sb,nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.9079,TG/0.09205;DB;DBA=NA;PAF=NA;NP=685;PC=0.001;Gene=TRIM33/NM_015906.3/1;CC=c.*54_*55insC;VC=3UTR;Gene=TRIM33/NM_033020.2/0;CC=c.*54_*55insC;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:21:18:8:0:13,8:416,233:0.00,21.06:0.00,20.21:0.00,0.85:0.00,0.99:0.00,1.00:0.00,0.90:60,70:33.8,48.2:2,0:0,0:86,83:31,38:9,30:-,NM_015906.3(TRIM33) c.*54_*55insC:-,0.09:-,NOT_FOUND 1 114940483 . C . . NT END=114940561;NT GT ./. 1 114940613 . C . . NT END=114942078;NT GT ./. 1 114940632 rs5777192 CA C 75 idl,rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=129;PC=1.000;Gene=TRIM33/NM_015906.3/1;CC=c.3121-21delT;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.3121-151delT;VC=Intron;DM=TRIM33/Bromodomain;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,G,I,C:53:29:1:29:1,25,1,1,25:10,751,36,34,880:-0.03,0.00,2.14,1.94,74.96:-0.08,0.00,1.08,2.05,28.77:0.05,0.00,1.05,-0.11,46.20:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:10.0,11.9,36.0,0.0,10.6:0,0,0,0,3:0,0,0,0,0:33,128,105,85,78:118,23,1,65,69:0,20,0,0,33:-,NM_015906.3(TRIM33) c.3121-21delT:-,NOT_FOUND:-,NOT_FOUND 1 114942232 . C . . NT END=114944010;NT GT ./. 1 114944086 . C . . NT END=114945381;NT GT ./. 1 114945506 . C . . NT END=114948031;NT GT ./. 1 114947935 rs1230795 G A 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=TRIM33/NM_015906.3/1;CC=c.2768+97C>T;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.2768+97C>T;VC=Intron;DM=TRIM33/PHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:17:0:0:17:513:59.40:59.40:0.00:1.00:1.00:0.00:60:35.4:0:0:30:120:27:NM_015906.3(TRIM33) c.2768+97C>T,NM_015906.3(TRIM33) c.2768+97C>T:1,1:NOT_FOUND,NOT_FOUND 1 114948281 rs6537825 A G 164 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.1436,G/0.8564;PC=0.999;Gene=TRIM33/NM_015906.3/1;CC=c.2519T>C;ProtCh=p.I840T;VC=Missense;Gene=TRIM33/NM_033020.2/0;CC=c.2519T>C;ProtCh=p.I840T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:112:52:0:0:60,52:1790,1726:0.00,163.86:0.00,65.54:0.00,98.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,36.7:0,0:0,0:91,88:58,62:36,29:-,NM_015906.3(TRIM33) c.2519T>C (p.Ile840Thr):-,0.84:-,0.942334 1 114948382 . C . . NT END=114949562;NT GT ./. 1 114949723 . C . . NT END=114951298;NT GT ./. 1 114951220 rs6672519 C T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7376,T/0.2624;Gene=TRIM33/NM_015906.3/1;CC=c.2258+79G>A;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.2258+79G>A;VC=Intron;DM=TRIM33/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:9:8:0:0:6,3:176,96:0.00,8.55:0.00,5.44:0.00,3.11:0.00,0.64:0.00,0.94:0.00,0.63:60,60:4.5,39.0:0,0:0,0:83,29:68,120:55,2:-,NM_015906.3(TRIM33) c.2258+79G>A:-,0.24:-,NOT_FOUND 1 114951363 . C . . NT END=114952805;NT GT ./. 1 114951390 rs71662879 T A 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8892,A/0.1108;Gene=TRIM33/NM_015906.3/1;CC=c.2195-28A>T;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.2195-28A>T;VC=Intron;DM=TRIM33/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:14:0:0:10,13:298,442:27.70,0.00:12.15,0.00:15.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,5.5:0,0:0,0:105,84:42,56:7,13:NM_015906.3(TRIM33) c.2195-28A>T,-:0.12,-:0.158024,- 1 114952939 . C . . NT END=114963001;NT GT ./. 1 114963074 . C . . NT END=114964057;NT GT ./. 1 114963973 rs34764124 TA T 18 rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=TA/0.8087,T/0.1913;NP=714;PC=0.017;Gene=TRIM33/NM_015906.3/1;CC=c.2061+84delT;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.2061+84delT;VC=Intron;DM=TRIM33/PHD;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:TA,I,T:22:22:3:7:13,2,7:395,96,203:0.00,4.82,17.98:0.00,4.86,18.13:0.00,-0.04,-0.15:0.00,0.00,0.97:0.00,0.00,1.00:0.00,0.00,0.54:60,60,60:32.8,17.0,17.9:0,1,0:0,0,0:45,22,46:100,128,105:24,0,17:-,NM_015906.3(TRIM33) c.2061+84delT:-,NOT_FOUND:-,NOT_FOUND 1 114964259 . C . . NT END=114967212;NT GT ./. 1 114967378 . C . . NT END=114968070;NT GT ./. 1 114967591 rs35212068 A T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7021,T/0.2979;Gene=TRIM33/NM_015906.3/1;CC=c.1696-214T>A;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.1696-214T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,T:10:0:0:0:6,4:182,118:0.00,10.79:0.00,0.00:0.00,10.79:0.00,0.84:0.00,0.00:0.00,0.84:60,60:0.0,46.2:0,0:0,0:112,136:38,15:27,12:-,NM_015906.3(TRIM33) c.1696-214T>A:-,0.26:-,NOT_FOUND 1 114968346 . C . . NT END=114969798;NT GT ./. 1 114969917 . C . . NT END=114970369;NT GT ./. 1 114969925 rs36115645 GA G 27 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=GA/0.8958,G/0.1042;NP=1069;Gene=TRIM33/NM_015906.3/1;CC=c.1303-10delT;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.1303-10delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:28:11:0:10:18,10:581,301:0.00,26.94:0.00,8.88:0.00,18.06:0.00,1.00:0.00,0.98:0.00,1.00:60,70:15.9,13.6:0,0:0,0:121,100:23,51:17,41:-,NM_015906.3(TRIM33) c.1303-10delT:-,NOT_FOUND:-,0.151781 1 114970517 . C . . NT END=114973419;NT GT ./. 1 114973429 rs12083584 T C 67 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.7043,C/0.2957;PC=1.000;Gene=TRIM33/NM_015906.3/1;CC=c.1146A>G;ProtCh=p.Q382=;VC=Silent;Gene=TRIM33/NM_033020.2/0;CC=c.1146A>G;ProtCh=p.Q382=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:36:0:0:20,24:706,727:67.00,0.00:41.76,0.00:25.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,9.2:0,0:0,0:55,48:96,102:15,23:NM_015906.3(TRIM33) c.1146A>G (p.(=)),-:0.26,-:0.367713,- 1 114973535 . C . . NT END=114976238;NT GT ./. 1 114973690 rs11585926 T C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8369,C/0.1631;PC=0.034;Gene=TRIM33/NM_015906.3/1;CC=c.1041-156A>G;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.1041-156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:8:0:0:0:3,5:101,162:9.23,0.00:0.00,0.00:9.23,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:42.0,0.0:0,0:0,0:101,98:50,53:19,38:NM_015906.3(TRIM33) c.1041-156A>G,-:0.16,-:NOT_FOUND,- 1 114976356 . C . . NT END=115005725;NT GT ./. 1 115005859 . C . . NT END=115006033;NT GT ./. 1 115006179 . C . . NT END=115006891;NT GT ./. 1 115006230 rs556039691 TA T 16 rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=289;PC=0.039;Gene=TRIM33/NM_015906.3/1;CC=c.646-53delT;VC=Intron;Gene=TRIM33/NM_033020.2/0;CC=c.646-53delT;VC=Intron;DM=TRIM33/zf-B_box;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,TA,I,T:26:10:1:7:1,18,1,6:12,501,33,211:0.12,0.00,2.06,15.70:-0.08,0.00,1.09,2.58:0.21,0.00,0.96,13.12:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.99:60,60,60,60:12.0,36.1,0.0,25.8:0,0,0,1:0,0,0,0:0,129,89,107:151,15,61,41:0,19,0,17:-,NM_015906.3(TRIM33) c.646-53delT:-,NOT_FOUND:-,NOT_FOUND 1 115007011 . C . . NT END=115053171;NT GT ./. 1 115053698 . G . . NT END=115110750;NT GT ./. 1 115053941 rs7547048 T G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7041,G/0.2959;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:G,T:12:0:0:0:3,9:104,303:8.90,0.00:0.00,0.00:8.90,0.00:0.59,0.00:0.00,0.00:0.59,0.00:60,60:34.7,9.4:0,0:0,0:97,117:54,34:10,14:NM_015906.3(TRIM33) c.-84-u160A>C,-:0.26,-:NOT_FOUND,- 1 115078547 rs2878745 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.49,C/0.51;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:185:21.36:18.08:3.28:1.00:1.00:1.00:60:46.5:0:0:52:98:23:chr1 g.115078546T>C (intergenic),chr1 g.115078546T>C (intergenic):0.53,0.53:NOT_FOUND,NOT_FOUND 1 115078549 rs12034144 G A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7993,A/0.2007;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,G:7:6:0:0:3,4:81,122:7.44,0.00:4.19,0.00:3.25,0.00:0.69,0.00:0.95,0.00:0.73,0.00:60,60:76.3,25.0:0,0:0,0:35,51:116,99:6,23:chr1 g.115078548G>A (intergenic),-:0.22,-:NOT_FOUND,- 1 115078685 rs2137365 G C 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:C,G:9:3:0:0:5,4:171,139:16.80,0.00:5.31,0.00:11.49,0.00:0.96,0.00:0.92,0.00:1.00,0.00:60,60:54.0,0.0:0,0:0,0:91,128:42,21:49,4:chr1 g.115078684G>C (intergenic),-:0.21,-:NOT_FOUND,- 1 115080263 rs12131807 G C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7604,C/0.2396 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,G:7:6:0:0:5,2:169,66:17.47,0.00:13.94,0.00:3.53,0.00:0.98,0.00:1.00,0.00:0.81,0.00:60,60:33.8,0.0:0,0:0,0:61,127:90,22:6,9:chr1 g.115080262G>C (intergenic),-:0.23,-:NOT_FOUND,- 1 115080517 rs6674801 G A 57 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5931,A/0.4069;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:7:0:0:16:494:56.98:15.51:41.47:1.00:1.00:1.00:60:45.2:0:0:121:25:21:chr1 g.115080516G>A (intergenic),chr1 g.115080516G>A (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 1 115080597 rs1810203 A G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8375,G/0.1625;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,G:8:0:0:0:1,7:33,194:0.00,21.37:0.00,0.00:0.00,21.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.0,60.4:0,0:0,0:125,95:26,56:0,20:-,chr1 g.115080596A>G (intergenic):-,0.17:-,NOT_FOUND 1 115110683 rs8128 A C 141 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.53,C/0.47;Gene=BCAS2/NM_005872.2/1;CC=c.*68T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:36:0:0:37:1233:140.94:117.08:23.86:1.00:1.00:1.00:60:39.3:0:0:40:111:18:NM_005872.2(BCAS2) c.*68T>G,NM_005872.2(BCAS2) c.*68T>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 115110878 . C . . NT END=115112612;NT GT ./. 1 115110989 rs71090789 C CT 28 sb;idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.63,CT/0.37;DB;DBA=NA;PAF=C/0.63,CT/0.37,CTTT/.;NP=13;PC=0.043;Gene=BCAS2/NM_005872.2/1;CC=c.552-113_552-112insA;VC=Intron;DM=BCAS2/BCAS2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:22:6:16:3:10,10,2:318,461,74:0.00,27.91,2.99:0.00,0.91,-0.09:0.00,27.01,3.09:0.00,1.00,0.00:0.00,0.90,0.00:0.00,1.00,0.00:60,60,60:26.0,19.2,29.0:0,6,1:0,0,0:131,81,124:16,69,27:1,31,6:-,NM_005872.2(BCAS2) c.552-113_552-112insA:-,NOT_FOUND:-,NOT_FOUND 1 115112694 . C . . NT END=115113320;NT GT ./. 1 115113372 . C . . NT END=115118210;NT GT ./. 1 115118373 . C . . NT END=115119308;NT GT ./. 1 115118622 rs41312702 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8285,G/0.1715;Gene=BCAS2/NM_005872.2/1;CC=c.258-250T>C;VC=Intron;DM=BCAS2/BCAS2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:6:0:0:0:3,3:57,94:0.00,9.05:0.00,0.00:0.00,9.05:0.00,0.73:0.00,0.00:0.00,0.73:60,60:25.7,31.3:0,0:0,0:73,90:77,61:43,38:-,NM_005872.2(BCAS2) c.258-250T>C:-,0.2:-,NOT_FOUND 1 115119380 . C . . NT END=115123919;NT GT ./. 1 115119392 rs41274118 T C 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.8285,C/0.1715;Gene=BCAS2/NM_005872.2/1;CC=c.187-13A>G;VC=Intron;DM=BCAS2/BCAS2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:25:0:0:20,17:675,547:65.96,0.00:22.61,0.00:43.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,12.8:0,0:0,0:88,97:52,51:10,12:NM_005872.2(BCAS2) c.187-13A>G,-:0.2,-:0.107659,- 1 115123747 rs1564824 A G 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8287,G/0.1713;PC=0.001;Gene=BCAS2/NM_005872.2/1;CC=c.186+173T>C;VC=Intron;DM=BCAS2/BCAS2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,G:11:11:0:0:4,7:110,215:0.00,21.71:0.00,21.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.5,63.3:0,0:0,0:35,30:115,120:12,26:-,NM_005872.2(BCAS2) c.186+173T>C:-,0.2:-,NOT_FOUND 1 115124013 . C . . NT END=115124119;NT GT ./. 1 115124213 . T . . NT END=115128220;NT GT ./. 1 115128087 rs222493 A G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1717,G/0.8283;Gene=DENND2C/NM_001256404.1/1;CC=c.*134T>C;VC=3UTR;Gene=DENND2C/NM_198459.3/0;CC=c.*134T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:A,G:10:10:0:0:4,6:111,186:0.00,18.56:0.00,18.56:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:43.0,32.8:0,0:0,0:108,18:36,133:15,15:-,NM_001256404.1(DENND2C) c.*134T>C:-,0.8:-,NOT_FOUND 1 115128253 . C . . NT END=115130007;NT GT ./. 1 115130095 . C . . NT END=115130336;NT GT ./. 1 115130574 . C . . NT END=115137093;NT GT ./. 1 115137200 . C . . NT END=115138452;NT GT ./. 1 115138495 . C . . NT END=115141894;NT GT ./. 1 115142073 . C . . NT END=115142824;NT GT ./. 1 115142974 . C . . NT END=115143440;NT GT ./. 1 115143582 . C . . NT END=115144128;NT GT ./. 1 115144207 . C . . NT END=115144745;NT GT ./. 1 115144304 rs12730318 C T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.8856,T/0.1144;Gene=DENND2C/NM_001256404.1/1;CC=c.1738-98G>A;VC=Intron;Gene=DENND2C/NM_198459.3/0;CC=c.1567-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:1:0:0:10,9:319,279:0.00,26.46:0.00,-0.28:0.00,26.74:0.00,1.00:0.00,0.65:0.00,1.00:60,60:10.3,43.0:0,0:0,0:104,113:46,37:30,23:-,NM_001256404.1(DENND2C) c.1738-98G>A:-,0.13:-,NOT_FOUND 1 115144703 rs28398 A G 159 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=3467;Gene=DENND2C/NM_001256404.1/1;CC=c.1737+43T>C;VC=Intron;Gene=DENND2C/NM_198459.3/0;CC=c.1566+43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:39:0:0:42:1390:159.00:124.00:35.00:1.00:1.00:1.00:60:36.2:0:0:29:119:22:NM_001256404.1(DENND2C) c.1737+43T>C,NM_001256404.1(DENND2C) c.1737+43T>C:1,1:0.992465,0.992465 1 115144816 . C . . NT END=115147542;NT GT ./. 1 115147653 . C . . NT END=115151306;NT GT ./. 1 115151495 . C . . NT END=115153693;NT GT ./. 1 115153739 . C . . NT END=115161006;NT GT ./. 1 115161104 . C . . NT END=115164515;NT GT ./. 1 115161140 rs12145066 C T 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8852,T/0.1148;PC=0.008;Gene=DENND2C/NM_001256404.1/1;CC=c.1228-37G>A;VC=Intron;Gene=DENND2C/NM_198459.3/0;CC=c.1057-37G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:29:11:0:0:1,12,16:8,359,497:-0.00,0.00,49.06:-0.05,0.00,12.58:0.04,0.00,36.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,16.2,36.2:0,0,0:0,0,0:88,82,129:62,68,21:0,21,15:-,NM_001256404.1(DENND2C) c.1228-37G>A:-,0.13:-,0.203849 1 115164687 . C . . NT END=115165607;NT GT ./. 1 115165472 rs222502 T A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1715,A/0.8285,G/.;Gene=DENND2C/NM_001256404.1/1;CC=c.1056+136A>T;VC=Intron;Gene=DENND2C/NM_198459.3/0;CC=c.1056+136A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,T:10:10:0:0:6,4:187,109:18.66,0.00:18.66,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:41.5,14.2:0,0:0,0:41,54:110,96:35,24:NM_001256404.1(DENND2C) c.1056+136A>T,-:0.79,-:NOT_FOUND,- 1 115165721 . C . . NT END=115166127;NT GT ./. 1 115166265 . C . . NT END=115167799;NT GT ./. 1 115166350 rs574964399 ATTGT A 47 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=ATTGT/0.1701,A/0.8299;DB;DBA=NA;PAF=ATTGT/0.1701,A/0.8299;NP=430;PC=0.012;Gene=DENND2C/NM_001256404.1/1;CC=c.807-90_807-87delACAA;VC=Intron;Gene=DENND2C/NM_198459.3/0;CC=c.807-90_807-87delACAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTGT,A:34:8:0:15:19,15:595,496:0.00,46.63:0.00,4.13:0.00,42.50:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.9,1.7:0,0:0,0:122,93:26,58:18,29:-,NM_001256404.1(DENND2C) c.807-90_807-87delACAA:-,0.8:-,NOT_FOUND 1 115166519 rs6681510 A G 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8397,G/0.1603;Gene=DENND2C/NM_001256404.1/1;CC=c.807-255T>C;VC=Intron;Gene=DENND2C/NM_198459.3/0;CC=c.807-255T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:0:0:0:2,2:72,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,39.0:0,0:0,0:48,76:102,74:3,56:-,NM_001256404.1(DENND2C) c.807-255T>C:-,0.17:-,NOT_FOUND 1 115168600 rs7541738 A T 109 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.8858,C/.,T/0.1142;PC=0.277;Gene=DENND2C/NM_001256404.1/1;CC=c.6T>A;ProtCh=p.D2E;VC=Missense;Gene=DENND2C/NM_198459.3/0;CC=c.6T>A;ProtCh=p.D2E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:66:21:0:0:32,34:1013,1128:0.00,109.18:0.00,23.87:0.00,85.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.2,41.2:0,0:0,0:99,89:46,55:31,29:-,NM_001256404.1(DENND2C) c.6T>A (p.Asp2Glu):-,0.13:-,0.203322 1 115168619 . T . . NT END=115215734;NT GT ./. 1 115215894 . C . . NT END=115216259;NT GT ./. 1 115216371 . C . . NT END=115216529;NT GT ./. 1 115216704 . C . . NT END=115217372;NT GT ./. 1 115216886 rs6701427 C T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1739,T/0.8261;PC=0.006;Gene=AMPD1/NM_000036.2/1;CC=c.1900-183G>A;VC=Intron;Gene=AMPD1/NM_001172626.1/0;CC=c.1888-183G>A;VC=Intron;DM=AMPD1/A_deaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:7:0:0:0:4,3:139,94:0.00,8.75:0.00,0.00:0.00,8.75:0.00,0.69:0.00,0.00:0.00,0.69:60,60:40.5,31.3:0,0:0,0:91,80:58,71:19,30:-,NM_000036.2(AMPD1) c.1900-183G>A:-,0.8:-,NOT_FOUND 1 115217494 . C . . NT END=115218150;NT GT ./. 1 115218315 . C . . NT END=115218497;NT GT ./. 1 115218625 . C . . NT END=115219971;NT GT ./. 1 115220136 . C . . NT END=115220530;NT GT ./. 1 115220420 rs71093606 CTCCTTCCT T,C 16 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=237;PC=0.012;DM=AMPD1/A_deaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:CTCCTTCCT,T,C:18:10:0:8:5,6,7:152,154,187:0.00,14.42,16.48:0.00,4.11,12.39:0.00,10.30,4.08:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.97:60,60,60:54.2,47.5,38.9:0,0,2:0,0,0:112,131,35:39,19,112:22,17,14:NM_000036.2(AMPD1) c.1323+104_1323+111delGGAAGGAG,NM_000036.2(AMPD1) c.1323+103_1323+110delAGGAAGGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 115220663 . C . . NT END=115220953;NT GT ./. 1 115221149 . C . . NT END=115222199;NT GT ./. 1 115222330 . C . . NT END=115222879;NT GT ./. 1 115222434 rs761755 G A 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.1741,A/0.8259;PC=0.007;Gene=AMPD1/NM_000036.2/1;CC=c.867-105C>T;VC=Intron;Gene=AMPD1/NM_001172626.1/0;CC=c.855-105C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:7:0:0:20,11:585,375:59.22,0.00:15.34,0.00:43.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.8,8.2:0,0:0,0:106,92:44,59:27,41:NM_000036.2(AMPD1) c.867-105C>T,-:0.8,-:NOT_FOUND,- 1 115223100 . C . . NT END=115226819;NT GT ./. 1 115226986 . C . . NT END=115229365;NT GT ./. 1 115226990 . C CA 15 idl,rn VT=INS;SST=Single;DP=70;NP=7;PC=0.004;Gene=AMPD1/NM_000036.2/1;CC=c.481-6dupT;VC=Intron;Gene=AMPD1/NM_001172626.1/0;CC=c.469-6dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,C,CA,D:68:40:7:5:1,57,7,3:28,1599,217,154:1.09,0.00,15.45,5.46:-0.14,0.00,3.24,0.71:1.24,0.00,12.21,4.75:0.00,0.00,0.89,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.98,0.00:60,60,60,60:38.0,19.2,33.9,16.7:0,0,0,2:0,0,0,0:31,80,94,101:120,65,38,48:0,26,36,28:-,NM_000036.2(AMPD1) c.481-6_481-5insT:-,NOT_FOUND:-,NOT_FOUND 1 115229532 . C . . NT END=115231181;NT GT ./. 1 115231254 rs61752479 G A 110 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=in-clinvar;PAF=G/0.9611,A/0.03894;PC=1.000;Gene=AMPD1/NM_000036.2/1;CC=c.242C>T;ProtCh=p.P81L;VC=Missense;Gene=AMPD1/NM_001172626.1/0;CC=c.230C>T;ProtCh=p.P77L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:49:0:0:35,39:1152,1189:109.65,0.00:46.07,0.00:63.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,3.6:0,0:0,0:90,66:57,84:29,23:NM_000036.2(AMPD1) c.242C>T (p.Pro81Leu),-:0.05,-:0.095879,- 1 115231363 . C . . NT END=115236056;NT GT ./. 1 115236057 rs17602729 G A 52 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=in-clinvar;PAF=G/0.9619,A/0.03814;PC=1.000;Gene=AMPD1/NM_000036.2/1;CC=c.133C>T;ProtCh=p.Q45*;VC=Nonsense;Gene=AMPD1/NM_001172626.1/0;CC=c.121+2014C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:27:0:0:18,16:536,533:51.88,0.00:34.87,0.00:17.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,2.2:0,0:0,0:71,45:74,100:24,28:NM_000036.2(AMPD1) c.133C>T (p.Gln45*),-:0.05,-:0.094586,- 1 115236069 . C . . NT END=115238070;NT GT ./. 1 115238016 rs68036474 CA C 51 idl,rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=157;PC=0.089;Gene=AMPD1/NM_000036.2/1;CC=c.121+54delT;VC=Intron;Gene=AMPD1/NM_001172626.1/0;CC=c.121+54delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:CA,I,C:39:46:17:27:12,10,17:373,538,693:0.00,28.46,51.39:0.00,23.41,36.50:0.00,5.05,14.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:10.3,30.7,9.6:0,7,5:0,0,0:115,27,63:26,118,88:24,18,33:-,NM_000036.2(AMPD1) c.121+54delT:-,NOT_FOUND:-,NOT_FOUND 1 115238192 . T . . NT END=115251155;NT GT ./. 1 115251276 . C . . NT END=115252189;NT GT ./. 1 115252350 . C . . NT END=115256420;NT GT ./. 1 115256600 . C . . NT END=115258670;NT GT ./. 1 115256669 rs969273 G A 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1248,A/0.8752;Gene=NRAS/NM_002524.4/1;CC=c.112-70C>T;VC=Intron;DM=NRAS/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:6:0:0:10,8:317,279:31.10,0.00:8.20,0.00:22.90,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:65.1,27.9:0,0:0,0:60,104:90,32:47,26:NM_002524.4(NRAS) c.112-70C>T,-:0.85,-:NOT_FOUND,- 1 115258782 . T . . NT END=115260789;NT GT ./. 1 115260838 . C . . NT END=115261233;NT GT ./. 1 115261367 . C . . NT END=115262199;NT GT ./. 1 115262364 . C . . NT END=115263159;NT GT ./. 1 115263339 . C . . NT END=115266503;NT GT ./. 1 115266306 rs2007231 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1238,T/0.8762;PC=0.001;Gene=CSDE1/NM_001007553.2/0;CC=c.1873+198G>A;VC=Intron;Gene=CSDE1/NM_001130523.2/0;CC=c.1918+198G>A;VC=Intron;Gene=CSDE1/NM_001242891.1/1;CC=c.2011+198G>A;VC=Intron;Gene=CSDE1/NM_001242892.1/0;CC=c.1873+198G>A;VC=Intron;Gene=CSDE1/NM_001242893.1/0;CC=c.1780+198G>A;VC=Intron;Gene=CSDE1/NM_007158.5/0;CC=c.1780+198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,T:8:8:0:0:4,4:137,132:0.00,12.70:0.00,12.70:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:0.0,41.2:0,0:0,0:95,51:56,99:28,10:-,NM_001242891.1(CSDE1) c.2011+198G>A:-,0.85:-,NOT_FOUND 1 115266624 . C . . NT END=115267841;NT GT ./. 1 115267955 . C . . NT END=115268831;NT GT ./. 1 115269008 . C . . NT END=115269603;NT GT ./. 1 115269712 . C . . NT END=115272878;NT GT ./. 1 115273044 . C . . NT END=115273128;NT GT ./. 1 115273270 . C . . NT END=115275224;NT GT ./. 1 115275438 . C . . NT END=115276352;NT GT ./. 1 115276479 . C . . NT END=115276609;NT GT ./. 1 115276739 . C . . NT END=115277062;NT GT ./. 1 115277145 . C . . NT END=115279378;NT GT ./. 1 115279477 . C . . NT END=115280091;NT GT ./. 1 115280185 . C . . NT END=115280583;NT GT ./. 1 115280694 . C . . NT END=115282312;NT GT ./. 1 115282512 . C . . NT END=115284147;NT GT ./. 1 115284286 . C . . NT END=115316891;NT GT ./. 1 115316994 . C . . NT END=115318966;NT GT ./. 1 115317220 rs191310728 G A 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9992,A/0.0007987;NP=4;PC=0.980;Gene=SIKE1/NM_001102396.1/0;CC=c.535-227C>T;VC=Intron;Gene=SIKE1/NM_025073.2/1;CC=c.523-227C>T;VC=Intron;Gene=SIKE1/NR_049741.1/0;VC=NonCoding;Gene=SIKE1/NR_049742.1/0;VC=NonCoding;DM=SIKE1/DUF837 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:7:0:0:0:5,2:162,69:16.77,0.00:0.00,0.00:16.77,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:34.4,6.0:0,0:0,0:137,90:14,61:2,4:NM_001102396.1(SIKE1) c.535-227C>T,-:0.0014,-:NOT_FOUND,- 1 115319081 . C . . NT END=115321762;NT GT ./. 1 115321906 . C . . NT END=115322730;NT GT ./. 1 115322837 . C . . NT END=115323007;NT GT ./. 1 115323229 . A . . NT END=115398085;NT GT ./. 1 115397950 rs56672723 CT C 46 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CT/0.5972,C/0.4028;NP=874;PC=0.005;Gene=SYCP1/NM_001282541.1/0;CC=c.-27-100delT;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.-27-100delT;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.-24-103delT;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:13:13:395:45.69:45.69:0.00:1.00:1.00:0.00:60:18.9:0:0:57:83:24:NM_003176.2(SYCP1) c.-24-111delT,NM_003176.2(SYCP1) c.-24-111delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 115398044 rs60659641 GC G 183 rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3334;Gene=SYCP1/NM_001282541.1/0;CC=c.-27-8delC;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.-27-8delC;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.-24-11delC;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:G:54:52:0:54:54:1571:182.79:153.39:29.39:1.00:1.00:1.00:70:10.8:0:0:42:104:26:NM_003176.2(SYCP1) c.-24-17delC,NM_003176.2(SYCP1) c.-24-17delC:0.98,0.98:0.992648,0.992648 1 115398195 . T . . NT END=115399193;NT GT ./. 1 115399280 . T . . NT END=115399852;NT GT ./. 1 115399613 rs114061337 C G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9884,G/0.01158;PC=0.002;Gene=SYCP1/NM_001282541.1/0;CC=c.194-240C>G;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.194-240C>G;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.194-240C>G;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,G:11:10:0:0:7,4:218,108:0.00,9.56:0.00,9.85:0.00,-0.29:0.00,0.82:0.00,0.98:0.00,0.66:60,60:15.4,74.8:0,0:0,0:46,43:97,107:31,20:-,NM_003176.2(SYCP1) c.194-240C>G:-,0.02:-,NOT_FOUND 1 115399757 rs71582509 C CAAA 32 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;PC=0.001;Gene=SYCP1/NM_001282541.1/0;CC=c.194-75_194-74insAAA;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.194-75_194-74insAAA;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.194-75_194-74insAAA;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,CAAA:15:23:18:0:5,10:138,577:0.00,32.12:0.00,32.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.0,81.5:0,8:0,0:139,40:11,93:10,21:-,NM_003176.2(SYCP1) c.194-96_194-95insAAA:-,NOT_FOUND:-,NOT_FOUND 1 115399779 rs370696536 G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=2;PC=0.004;Gene=SYCP1/NM_001282541.1/0;CC=c.194-74G>A;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.194-74G>A;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.194-74G>A;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,G:29:25:0:1:5,24:102,649:6.86,0.00:3.92,0.00:2.94,0.00:0.80,0.00:0.97,0.00:0.79,0.00:60,60:68.6,25.5:0,0:0,0:82,41:69,100:15,16:NM_003176.2(SYCP1) c.194-74G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 115399788 rs368434924 G GA 16 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=SYCP1/NM_001282541.1/0;CC=c.194-54_194-53insA;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.194-54_194-53insA;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.194-54_194-53insA;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,G,T,GA,D:34:29:6:2:2,24,1,6,1:47,639,8,193,25:2.65,0.00,-0.15,15.64,1.15:1.50,0.00,-0.22,11.65,1.23:1.15,0.00,0.07,3.99,-0.08:0.00,0.00,0.00,0.89,0.00:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,0.88,0.00:60,60,60,60,60:95.5,24.3,40.0,9.5,145.0:0,0,0,0,0:0,0,0,0,0:83,34,30,56,7:49,111,105,83,144:22,22,0,18,0:-,NM_003176.2(SYCP1) c.194-65_194-64insA:-,NOT_FOUND:-,NOT_FOUND 1 115399898 . T . . NT END=115400064;NT GT ./. 1 115399940 rs360614 T G 177 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.6691,G/0.3309;Gene=SYCP1/NM_001282541.1/0;CC=c.237+44T>G;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.237+44T>G;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.237+44T>G;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:G:50:26:0:0:50:1535:177.19:70.04:107.15:1.00:1.00:1.00:60:44.7:0:0:108:40:24:NM_003176.2(SYCP1) c.237+44T>G,NM_003176.2(SYCP1) c.237+44T>G:0.37,0.37:0.343255,0.343255 1 115400120 . T . . NT END=115401167;NT GT ./. 1 115401136 rs360615 G A 142 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.01278,A/0.9872;Gene=SYCP1/NM_001282541.1/0;CC=c.292-32G>A;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.292-32G>A;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.292-32G>A;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:35:0:0:38:1242:142.26:115.89:26.37:1.00:1.00:1.00:60:43.4:0:0:44:81:34:NM_003176.2(SYCP1) c.292-32G>A,NM_003176.2(SYCP1) c.292-32G>A:0.99,0.99:0.987455,0.987455 1 115401334 . T . . NT END=115402363;NT GT ./. 1 115402433 . T . . NT END=115403356;NT GT ./. 1 115403432 . T . . NT END=115417126;NT GT ./. 1 115417187 . T . . NT END=115418689;NT GT ./. 1 115418761 . T . . NT END=115419357;NT GT ./. 1 115419433 . T . . NT END=115420714;NT GT ./. 1 115420518 rs360635 A C 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4553,C/0.5447;Gene=SYCP1/NM_001282541.1/0;CC=c.802-197A>C;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.802-197A>C;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.802-197A>C;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:141:16.01:16.01:0.00:1.00:1.00:0.00:60:35.2:0:0:15:135:7:NM_003176.2(SYCP1) c.802-197A>C,NM_003176.2(SYCP1) c.802-197A>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 115420825 . T . . NT END=115428155;NT GT ./. 1 115420905 rs360636 T C 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6667,C/0.3333;PC=0.168;Gene=SYCP1/NM_001282541.1/0;CC=c.910+82T>C;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.910+82T>C;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.910+82T>C;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:C:17:0:0:0:17:449:52.67:0.00:52.67:1.00:0.00:1.00:60:43.9:0:0:68:83:37:NM_003176.2(SYCP1) c.910+82T>C,NM_003176.2(SYCP1) c.910+82T>C:0.38,0.38:NOT_FOUND,NOT_FOUND 1 115428252 . T . . NT END=115428745;NT GT ./. 1 115428932 . t . . NT END=115430246;NT GT ./. 1 115430316 . T . . NT END=115438068;NT GT ./. 1 115438132 . T . . NT END=115453017;NT GT ./. 1 115452116 rs57520899 TAC T 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=24;PC=0.001;Gene=SYCP1/NM_001282541.1/0;CC=c.1321-863_1321-862delAC;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.1321-863_1321-862delAC;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.1321-863_1321-862delAC;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:TAC,T:7:4:0:3:4,3:113,101:0.00,9.46:0.00,2.97:0.00,6.48:0.00,0.69:0.00,0.89:0.00,0.93:60,60:45.8,0.0:0,0:0,0:99,45:37,68:11,20:-,NM_003176.2(SYCP1) c.1321-901_1321-900delAC:-,NOT_FOUND:-,NOT_FOUND 1 115453124 . T . . NT END=115454099;NT GT ./. 1 115454205 . T . . NT END=115455653;NT GT ./. 1 115455773 . T . . NT END=115456595;NT GT ./. 1 115456667 . G . . NT END=115466069;NT GT ./. 1 115466153 . T . . NT END=115468898;NT GT ./. 1 115468962 . G . . NT END=115469121;NT GT ./. 1 115469185 . G . . NT END=115486959;NT GT ./. 1 115487077 . G . . NT END=115487492;NT GT ./. 1 115487468 rs562351194 CT C 7 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=8;PC=0.037;Gene=SYCP1/NM_001282541.1/0;CC=c.2044-14delT;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.2044-14delT;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.2044-14delT;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:CT,T,I,C:36:30:3:3:29,1,3,3:923,12,99,100:0.00,-0.01,7.00,7.10:0.00,-0.24,4.66,4.76:0.00,0.23,2.34,2.34:0.00,0.00,0.00,0.39:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.69:60,60,60,60:14.2,12.0,16.7,7.7:0,0,0,0:0,0,0,0:48,36,38,55:100,115,90,96:20,0,12,22:-,NM_003176.2(SYCP1) c.2044-24delT:-,NOT_FOUND:-,NOT_FOUND 1 115487604 . G . . NT END=115488909;NT GT ./. 1 115488821 rs360674 C T 48 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7875,T/0.2125;PC=0.958;Gene=SYCP1/NM_001282541.1/0;CC=c.2155-89C>T;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.2155-89C>T;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.2155-89C>T;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:419:48.10:46.21:1.89:1.00:1.00:1.00:60:34.0:0:0:29:122:12:NM_003176.2(SYCP1) c.2155-89C>T,NM_003176.2(SYCP1) c.2155-89C>T:0.25,0.25:NOT_FOUND,NOT_FOUND 1 115489003 . G . . NT END=115489866;NT GT ./. 1 115489942 . G . . NT END=115520177;NT GT ./. 1 115520238 . G . . NT END=115523956;NT GT ./. 1 115524134 . G . . NT END=115527345;NT GT ./. 1 115524216 rs12026343 C T 94 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.6394,T/0.3606;Gene=SYCP1/NM_001282541.1/0;CC=c.2559+83C>T;VC=Intron;Gene=SYCP1/NM_001282542.1/0;CC=c.2484+83C>T;VC=Intron;Gene=SYCP1/NM_003176.3/1;CC=c.2559+83C>T;VC=Intron;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G,T:26:4:0:0:1,25:11,824:0.36,93.87:0.00,9.05:0.36,84.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,39.5:0,0:0,0:125,87:22,64:0,36:NM_003176.2(SYCP1) c.2559+83C>T,NM_003176.2(SYCP1) c.2559+83C>T:0.4,0.4:NOT_FOUND,NOT_FOUND 1 115527490 . G . . NT END=115537318;NT GT ./. 1 115537409 . G . . NT END=115537502;NT GT ./. 1 115537600 . G GA 15 rn VT=INS;SST=Single;DP=64;NP=5;PC=1.000;Gene=SYCP1/NM_001282541.1/0;CC=c.2901dupA;ProtCh=p.L968Tfs*5;VC=FrameShiftIns;Gene=SYCP1/NM_001282542.1/0;CC=c.2826dupA;ProtCh=p.L943Tfs*5;VC=FrameShiftIns;Gene=SYCP1/NM_003176.3/1;CC=c.2901dupA;ProtCh=p.L968Tfs*5;VC=FrameShiftIns;Gene=SYCP1/NR_104211.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,GA:64:38:7:0:57,7:1847,209:0.00,14.66:0.00,6.68:0.00,7.98:0.00,0.90:0.00,0.95:0.00,0.97:60,60:10.5,15.4:0,0:0,0:86,103:58,47:34,20:-,NM_003176.2(SYCP1) c.2901dupA (p.Leu968Thrfs*5):-,NOT_FOUND:-,NOT_FOUND 1 115537641 . T . . NT END=115575944;NT GT ./. 1 115537933 rs11084 A G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5449,G/0.4551;Gene=SYCP1/NM_001282541.1/0;CC=c.*293A>G;VC=3UTR;Gene=SYCP1/NM_001282542.1/0;CC=c.*293A>G;VC=3UTR;Gene=SYCP1/NM_003176.3/1;CC=c.*293A>G;VC=3UTR;Gene=SYCP1/NR_104211.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:146:16.98:0.00:16.98:1.00:0.00:1.00:60:53.4:0:0:88:63:19:NM_003176.2(SYCP1) c.*293A>G,NM_003176.2(SYCP1) c.*293A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 115576023 rs10776792 A G 176 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.01637,G/0.9836;PC=0.058;Gene=TSHB/NM_000549.4/1;CC=c.40A>G;ProtCh=p.T14A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:G:46:33:0:0:46:1541:176.01:84.52:91.49:1.00:1.00:1.00:60:38.0:0:0:71:80:30:NM_000549.3(TSHB) c.40A>G (p.Thr14Ala),NM_000549.3(TSHB) c.40A>G (p.Thr14Ala):0.99,0.99:0.975242,0.975242 1 115576185 . T . . NT END=115576527;NT GT ./. 1 115576482 rs28566771 C G 79 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5611,G/0.4389;Gene=TSHB/NM_000549.4/1;CC=c.163-112C>G;VC=Intron;DM=TSHB/Cys_knot GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:G:23:18:0:0:23:686:79.37:53.82:25.55:1.00:1.00:1.00:60:46.9:0:0:32:118:20:NM_000549.3(TSHB) c.163-112C>G,NM_000549.3(TSHB) c.163-112C>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 115576888 . G . . NT END=115593110;NT GT ./. 1 115593177 . C . . NT END=115595999;NT GT ./. 1 115593414 rs1321105 C G 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7983,G/0.2017,T/.;PC=0.001;Gene=TSPAN2/NM_001308315.1/0;CC=c.526-238G>C;VC=Intron;Gene=TSPAN2/NM_001308316.1/0;CC=c.517-238G>C;VC=Intron;Gene=TSPAN2/NM_005725.5/1;CC=c.601-238G>C;VC=Intron;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:226:25.93:0.00:25.93:1.00:0.00:1.00:60:57.6:0:0:101:50:46:NM_005725.4(TSPAN2) c.601-238G>C,NM_005725.4(TSPAN2) c.601-238G>C:0.24,0.24:NOT_FOUND,NOT_FOUND 1 115596084 . C . . NT END=115600157;NT GT ./. 1 115600230 . C . . NT END=115601503;NT GT ./. 1 115601603 . C . . NT END=115603084;NT GT ./. 1 115601615 rs7523818 A G 127 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.03435,G/0.9657;Gene=TSPAN2/NM_001308315.1/0;CC=c.271-13T>C;VC=Intron;Gene=TSPAN2/NM_001308316.1/0;CC=c.346-13T>C;VC=Intron;Gene=TSPAN2/NM_005725.5/1;CC=c.346-13T>C;VC=Intron;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:22:0:0:36:1103:127.34:49.10:78.24:1.00:1.00:1.00:60:34.2:0:0:71:80:30:NM_005725.4(TSPAN2) c.346-13T>C,NM_005725.4(TSPAN2) c.346-13T>C:0.96,0.96:0.934107,0.934107 1 115603160 . C . . NT END=115604755;NT GT ./. 1 115603340 rs6537853 C G 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.06589,G/0.9341;Gene=TSPAN2/NM_001308315.1/0;CC=c.270+1416G>C;VC=Intron;Gene=TSPAN2/NM_001308316.1/0;CC=c.271-181G>C;VC=Intron;Gene=TSPAN2/NM_005725.5/1;CC=c.271-181G>C;VC=Intron;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:281:32.39:0.00:32.39:1.00:0.00:1.00:60:50.7:0:0:108:42:17:NM_005725.4(TSPAN2) c.271-181G>C,NM_005725.4(TSPAN2) c.271-181G>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 115604681 rs11102881 A G 133 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.6799,G/0.3201;Gene=TSPAN2/NM_001308315.1/0;CC=c.270+75T>C;VC=Intron;Gene=TSPAN2/NM_001308316.1/0;CC=c.270+75T>C;VC=Intron;Gene=TSPAN2/NM_005725.5/1;CC=c.270+75T>C;VC=Intron;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:39:0:0:39:1144:132.87:125.42:7.45:1.00:1.00:1.00:60:83.8:0:0:62:89:38:NM_005725.4(TSPAN2) c.270+75T>C,NM_005725.4(TSPAN2) c.270+75T>C:0.34,0.34:NOT_FOUND,NOT_FOUND 1 115604733 . A C 7 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;PC=0.001;Gene=TSPAN2/NM_001308315.1/0;CC=c.270+23T>G;VC=Intron;Gene=TSPAN2/NM_001308316.1/0;CC=c.270+23T>G;VC=Intron;Gene=TSPAN2/NM_005725.5/1;CC=c.270+23T>G;VC=Intron;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,C:45:39:0:0:38,7:975,120:0.00,7.01:0.00,7.92:0.00,-0.91:0.00,0.93:0.00,0.99:0.00,0.91:60,60:56.0,170.0:0,0:0,0:40,57:99,94:31,29:-,NM_005725.4(TSPAN2) c.270+23T>G:-,NOT_FOUND:-,NOT_FOUND 1 115604798 rs10776795 C T 300 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.6799,T/0.3201;PC=0.039;Gene=TSPAN2/NM_001308315.1/0;CC=c.228G>A;ProtCh=p.G76=;VC=Silent;Gene=TSPAN2/NM_001308316.1/0;CC=c.228G>A;ProtCh=p.G76=;VC=Silent;Gene=TSPAN2/NM_005725.5/1;CC=c.228G>A;ProtCh=p.G76=;VC=Silent;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:87:58:0:0:1,1,85:12,8,2607:0.17,0.07,300.07:0.17,0.00,133.65:0.00,0.07,166.43:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:300.0,27.0,42.4:0,0,0:0,0,0:117,16,51:34,135,97:0,0,26:NM_005725.4(TSPAN2) c.228G>A (p.(=)),NM_005725.4(TSPAN2) c.228G>A (p.(=)):0.34,0.34:0.292615,0.292615 1 115604854 . C . . NT END=115615525;NT GT ./. 1 115605181 rs7550281 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6799,T/0.3201;PC=0.005;Gene=TSPAN2/NM_001308315.1/0;CC=c.173-328G>A;VC=Intron;Gene=TSPAN2/NM_001308316.1/0;CC=c.173-328G>A;VC=Intron;Gene=TSPAN2/NM_005725.5/1;CC=c.173-328G>A;VC=Intron;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:1:0:0:5:163:18.68:3.88:14.81:1.00:1.00:1.00:60:47.8:0:0:90:61:23:NM_005725.4(TSPAN2) c.173-328G>A,NM_005725.4(TSPAN2) c.173-328G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 115615629 . C . . NT END=115631984;NT GT ./. 1 115631924 rs4240540 C T 228 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.02696,T/0.973;Gene=TSPAN2/NM_001308315.1/0;CC=c.69+61G>A;VC=Intron;Gene=TSPAN2/NM_001308316.1/0;CC=c.69+61G>A;VC=Intron;Gene=TSPAN2/NM_005725.5/1;CC=c.69+61G>A;VC=Intron;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin;DM=TSPAN2/Tetraspannin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C,T:61:60:0:0:1,60:8,2014:0.00,228.46:0.00,208.66:0.00,19.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:191.0,48.1:0,0:0,0:135,45:16,105:0,27:NM_005725.4(TSPAN2) c.69+61G>A,NM_005725.4(TSPAN2) c.69+61G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 115632054 . G . . NT END=115828690;NT GT ./. 1 115632242 rs6659426 C G 68 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.01677,G/0.9832;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:1:0:0:19:587:67.72:1.74:65.99:1.00:1.00:1.00:60:48.2:0:0:101:50:35:NM_005725.4(TSPAN2) c.-68-u121G>C,NM_005725.4(TSPAN2) c.-68-u121G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 115829313 rs6330 G A 414 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.7526,A/0.2474;PC=0.997;Gene=NGF/NM_002506.2/1;CC=c.104C>T;ProtCh=p.A35V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:119:65:0:0:119:3578:414.15:178.14:236.01:1.00:1.00:1.00:60:40.5:0:0:89:62:35:NM_002506.2(NGF) c.104C>T (p.Ala35Val),NM_002506.2(NGF) c.104C>T (p.Ala35Val):0.31,0.31:0.369137,0.369137 1 115829417 . T . . NT END=116194034;NT GT ./. 1 115902284 rs7523605 A G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4157,G/0.5843;PC=0.032 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:6:5:0:0:1,5:35,131:0.00,14.27:0.00,11.36:0.00,2.91:0.00,0.99:0.00,1.00:0.00,0.98:60,60:8.0,92.2:0,0:0,0:74,18:76,133:0,8:-,chr1 g.115902283A>G (intergenic):-,0.55:-,NOT_FOUND 1 115902319 rs6537866 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4161,T/0.5839;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T:6:5:0:0:1,5:29,146:0.00,15.78:0.00,12.75:0.00,3.02:0.00,0.99:0.00,1.00:0.00,1.00:60,60:9.0,92.2:0,0:0,0:106,53:45,98:0,8:-,chr1 g.115902318C>T (intergenic):-,0.55:-,NOT_FOUND 1 115902423 rs61797065 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8774,C/0.1226;PC=0.071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:3:0:0:4,1:79,33:8.52,0.00:2.98,0.00:5.54,0.00:0.96,0.00:0.99,0.00:1.00,0.00:60,60:136.5,10.0:0,0:0,0:46,24:103,127:25,0:chr1 g.115902422T>C (intergenic),-:0.13,-:NOT_FOUND,- 1 115902441 rs61797066 G C 12 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8776,C/0.1224;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:5:2:0:0:4,1:110,36:11.82,0.00:1.54,0.00:10.27,0.00:0.96,0.00:0.97,0.00:0.96,0.00:60,60:144.5,0.0:0,0:0,0:46,17:104,133:7,0:chr1 g.115902440G>C (intergenic),-:0.13,-:NOT_FOUND,- 1 115902477 rs61797067 A G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8774,G/0.1226;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:3:0:0:1,4:33,114:0.00,12.19:0.00,5.42:0.00,6.77:0.00,0.96:0.00,0.99:0.00,1.00:60,60:0.0,140.8:0,0:0,0:53,75:97,74:0,25:-,chr1 g.115902476A>G (intergenic):-,0.13:-,NOT_FOUND 1 115902518 rs139084915 C T 13 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.99,T/0.009984;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:6:3:0:0:2,4:69,126:0.00,12.85:0.00,1.27:0.00,11.58:0.00,0.93:0.00,0.97:0.00,0.93:60,60:5.0,148.8:0,0:0,0:76,116:59,33:43,7:-,chr1 g.115902517C>T (intergenic):-,0.02:-,NOT_FOUND 1 115902887 rs7512500 C T 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8774,T/0.1226;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:15:13:0:0:11,4:333,108:0.00,8.93:0.00,7.66:0.00,1.27:0.00,0.76:0.00,0.96:0.00,0.71:60,60:51.3,82.0:0,0:0,0:48,41:103,109:31,23:-,chr1 g.115902886C>T (intergenic):-,0.13:-,NOT_FOUND 1 115902891 rs7512502 C G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8768,G/0.1232;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,G:15:13:0:0:11,4:309,119:0.00,10.03:0.00,8.78:0.00,1.25:0.00,0.76:0.00,0.96:0.00,0.78:60,60:56.9,81.2:0,0:0,0:44,45:103,105:24,30:-,chr1 g.115902890C>G (intergenic):-,0.12:-,NOT_FOUND 1 115903166 rs7534767 G A 89 nt VT=SNV;PN=G;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.8772,A/0.1228;PC=0.056 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:33:0:0:31,18:886,586:89.30,0.00:49.60,0.00:39.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.0,36.1:0,0:0,0:71,84:69,50:32,27:chr1 g.115903165G>A (intergenic),-:0.13,-:NOT_FOUND,- 1 115903210 rs7529142 T C 81 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.8772,C/0.1228;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:41:22:0:0:1,27,13:10,789,374:0.07,80.71,0.00:0.17,34.02,0.00:-0.10,46.69,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:113.0,73.7,41.7:0,0,0:0,0,0:99,97,115:19,53,34:0,23,14:chr1 g.115903209T>C (intergenic),-:0.13,-:NOT_FOUND,- 1 115903546 rs4414038 A G 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.01538,G/0.9846;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C,G:34:19:0:0:2,32:18,884:0.69,102.27:0.48,33.70:0.22,68.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.5,54.4:0,0:0,0:58,89:83,51:44,26:chr1 g.115903545A>G (intergenic),chr1 g.115903545A>G (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 115903696 rs61797069 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8774,C/0.1226;PC=0.058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:C,T:12:3:0:0:5,7:160,233:14.85,0.00:3.46,0.00:11.38,0.00:0.92,0.00:0.82,0.00:0.99,0.00:60,60:44.6,23.4:0,0:0,0:95,89:56,53:12,25:chr1 g.115903695T>C (intergenic),-:0.13,-:NOT_FOUND,- 1 115910265 rs140423672 CAT C 9 sb,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=30;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CAT,C:5:3:0:3:2,3:69,87:0.00,8.67:0.00,0.78:0.00,7.89:0.00,0.78:0.00,0.94:0.00,0.97:60,60:6.0,0.0:0,0:0,0:46,67:104,84:17,30:-,chr1 g.115910266_115910267delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 116082582 rs4311884 G T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5503,T/0.4497;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:127:14.61:8.79:5.82:1.00:1.00:1.00:60:47.8:0:0:79:71:20:chr1 g.116082581G>T (intergenic),chr1 g.116082581G>T (intergenic):0.53,0.53:NOT_FOUND,NOT_FOUND 1 116108044 rs2000710 T G 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1607,G/0.8393;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:4:0:0:7:253:28.64:12.33:16.31:1.00:1.00:1.00:60:36.1:0:0:99:52:14:chr1 g.116108043T>G (intergenic),chr1 g.116108043T>G (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 116140040 rs143829516 AACACAC A 18 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=26;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:AACACAC,A:6:7:0:6:1,5:35,203:0.00,18.01:0.00,6.87:0.00,11.14:0.00,0.98:0.00,0.98:0.00,1.00:60,70:0.0,0.0:0,1:0,0:127,56:23,73:0,17:-,chr1 g.116140041_116140046delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 116194106 . G . . NT END=116202261;NT GT ./. 1 116202126 rs60410197 C CTG 39 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=3;NP=38;Gene=VANGL1/NM_001172411.1/0;CC=c.72-101_72-100insGT;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.72-101_72-100insGT;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.72-101_72-100insGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,CTG,D:40:40:13:4:2,21,1,13,3:17,716,10,425,134:0.09,0.00,-0.01,38.74,7.63:0.15,0.00,0.02,31.54,8.95:-0.07,0.00,-0.03,7.20,-1.32:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.97,0.00:60,60,60,60,60:80.5,21.4,99.0,15.1,12.0:0,0,0,0,1:0,0,0,0,0:105,49,38,48,64:35,95,89,102,86:31,25,0,20,23:-,NM_138959.2(VANGL1) c.72-136_72-135insTG:-,NOT_FOUND:-,NOT_FOUND 1 116202395 . G . . NT END=116206281;NT GT ./. 1 116206423 rs4839469 G A 350 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=227;DB;DBA=NA;PAF=G/0.885,A/0.115,C/.;PC=0.932;Gene=VANGL1/NM_001172411.1/0;CC=c.340G>A;ProtCh=p.A114T;VC=Missense;Gene=VANGL1/NM_138959.2/1;CC=c.346G>A;ProtCh=p.A116T;VC=Missense;Gene=VANGL1/NM_001172412.1/0;CC=c.346G>A;ProtCh=p.A116T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:227:162:0:0:113,113,1:3636,3591,10:349.54,0.00,-0.15:195.01,0.00,-0.11:154.53,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.3,6.4,21.0:0,0,0:0,0,0:79,63,105:68,88,46:32,32,0:NM_138959.2(VANGL1) c.346G>A (p.Ala116Thr),-:0.13,-:0.124097,- 1 116206890 . G . . NT END=116224984;NT GT ./. 1 116206951 rs12739928 C G 154 nt VT=SNV;PN=T;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.8856,G/0.1144;Gene=VANGL1/NM_001172411.1/0;CC=c.806+62C>G;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.812+62C>G;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.812+62C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:102:40:0:0:53,49:1799,1616:0.00,154.26:0.00,40.00:0.00,114.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,47.5:0,0:0,0:100,96:51,54:27,29:-,NM_138959.2(VANGL1) c.812+62C>G:-,0.1:-,NOT_FOUND 1 116207111 rs12752458 T C 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8714,C/0.1286;PC=0.001;Gene=VANGL1/NM_001172411.1/0;CC=c.806+222T>C;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.812+222T>C;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.812+222T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:8,9:242,301:22.91,0.00:0.00,0.00:22.91,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:35.8,5.2:0,0:0,0:111,98:38,50:5,22:NM_138959.2(VANGL1) c.812+222T>C,-:0.11,-:NOT_FOUND,- 1 116224788 rs10923174 T C 31 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3005,C/0.6995;Gene=VANGL1/NM_001172411.1/0;CC=c.807-197T>C;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.813-197T>C;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.813-197T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:23:23:0:0:10,1,12:326,9,384:30.78,0.04,0.00:30.78,0.04,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:91.5,224.0,0.0:0,0,0:0,0,0:68,50,44:82,101,107:46,0,34:NM_138959.2(VANGL1) c.813-197T>C,-:0.7,-:NOT_FOUND,- 1 116224792 rs10923175 C T 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.3005,T/0.6995;Gene=VANGL1/NM_001172411.1/0;CC=c.807-193C>T;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.813-193C>T;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.813-193C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:14,10:422,347:0.00,32.40:0.00,32.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.9,96.0:0,0:0,0:37,71:113,80:24,46:-,NM_138959.2(VANGL1) c.813-193C>T:-,0.7:-,NOT_FOUND 1 116224925 rs10923176 G A 77 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.3221,A/0.6779;Gene=VANGL1/NM_001172411.1/0;CC=c.807-60G>A;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.813-60G>A;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.813-60G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:57:51:0:0:25,31,1:815,928,11:76.70,0.00,-0.04:57.59,0.00,0.03:19.11,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:74.1,5.5,148.0:0,0,0:0,0,0:32,48,129:118,102,22:17,31,0:NM_138959.2(VANGL1) c.813-60G>A,-:0.68,-:NOT_FOUND,- 1 116224940 rs10754330 C A 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.3217,A/0.6783,T/.;Gene=VANGL1/NM_001172411.1/0;CC=c.807-45C>A;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.813-45C>A;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.813-45C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:59:50:0:0:25,34:781,1158:72.51,0.00:49.67,0.00:22.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.2,7.1:0,0:0,0:43,43:108,105:18,28:NM_138959.2(VANGL1) c.813-45C>A,-:0.68,-:0.634323,- 1 116225119 . G . . NT END=116226564;NT GT ./. 1 116225180 rs10923177 A C 106 nt VT=SNV;PN=G;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=VANGL1/NM_001172411.1/0;CC=c.940+62A>C;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.946+62A>C;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.946+62A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:67:21:0:0:35,32:1082,1108:0.00,105.95:0.00,16.13:0.00,89.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,37.6:0,0:0,0:96,106:51,45:31,24:-,NM_138959.2(VANGL1) c.946+62A>C:-,0.68:-,NOT_FOUND 1 116226459 rs12144356 C T 74 nt VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.3037,T/0.6963;PC=0.001;Gene=VANGL1/NM_001172411.1/0;CC=c.941-106C>T;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.947-106C>T;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.947-106C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:41:0:0:16,25:536,739:0.00,73.78:0.00,70.48:0.00,3.31:0.00,1.00:0.00,1.00:0.00,0.95:60,60:9.8,40.4:0,0:0,0:33,49:117,102:13,19:-,NM_138959.2(VANGL1) c.947-106C>T:-,0.7:-,NOT_FOUND 1 116226698 . G . . NT END=116227913;NT GT ./. 1 116226862 rs4631691 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2726,C/0.7274;Gene=VANGL1/NM_001172411.1/0;CC=c.1073+165T>C;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.1079+165T>C;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.1079+165T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:1:0:0:11,12:256,367:23.73,0.00:1.68,0.00:22.05,0.00:1.00,0.00:0.65,0.00:1.00,0.00:60,60:54.6,21.1:0,0:0,0:87,76:63,73:23,30:NM_138959.2(VANGL1) c.1079+165T>C,-:0.72,-:NOT_FOUND,- 1 116226917 rs4620545 G A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3003,A/0.6997;Gene=VANGL1/NM_001172411.1/0;CC=c.1073+220G>A;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.1079+220G>A;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.1079+220G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:8,8:220,230:21.00,0.00:0.00,0.00:21.00,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.5,30.4:0,0:0,0:123,117:26,32:17,19:NM_138959.2(VANGL1) c.1079+220G>A,-:0.7,-:NOT_FOUND,- 1 116226961 rs4357522 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3003,G/0.6997;PC=0.001;Gene=VANGL1/NM_001172411.1/0;CC=c.1073+264A>G;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.1079+264A>G;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.1079+264A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:6:0:0:0:3,3:98,104:0.00,10.03:0.00,0.00:0.00,10.03:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,74.3:0,0:0,0:117,79:32,71:8,4:-,NM_138959.2(VANGL1) c.1079+264A>G:-,0.68:-,NOT_FOUND 1 116228149 . G . . NT END=116233739;NT GT ./. 1 116228220 rs12145661 C T 134 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.4054,T/0.5946;Gene=VANGL1/NM_001172411.1/0;CC=c.1308+72C>T;VC=Intron;Gene=VANGL1/NM_138959.2/1;CC=c.1314+72C>T;VC=Intron;Gene=VANGL1/NM_001172412.1/0;CC=c.1314+72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:11:0:0:36,44:969,1370:0.00,134.07:0.00,11.97:0.00,122.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,39.0:0,0:0,0:107,100:43,49:29,31:-,NM_138959.2(VANGL1) c.1314+72C>T:-,0.59:-,NOT_FOUND 1 116234001 . A . . NT END=116243861;NT GT ./. 1 116244048 . C . . NT END=116245541;NT GT ./. 1 116245381 rs3934652 G T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.865,T/0.135;PC=0.184;Gene=CASQ2/NM_001232.3/1;CC=c.1014+161C>A;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:G,T:11:11:0:0:7,4:164,139:0.00,12.72:0.00,12.72:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:49.0,34.8:0,0:0,0:51,16:100,134:29,5:-,NM_001232.3(CASQ2) c.1014+161C>A:-,0.16:-,NOT_FOUND 1 116245617 . C . . NT END=116247812;NT GT ./. 1 116245809 rs6667224 C T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3732,T/0.6268;Gene=CASQ2/NM_001232.3/1;CC=c.940-193G>A;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:6:0:0:0:2,4:67,73:0.00,7.48:0.00,0.00:0.00,7.48:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,45.5:0,0:0,0:120,74:30,77:23,63:-,NM_001232.3(CASQ2) c.940-193G>A:-,0.63:-,NOT_FOUND 1 116247790 rs3811003 G A 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.5713,A/0.4287;Gene=CASQ2/NM_001232.3/1;CC=c.939+23C>T;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:44:0:0:19,26:637,780:59.49,0.00:48.52,0.00:10.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.5,5.4:0,0:0,0:31,65:118,85:22,35:NM_001232.3(CASQ2) c.939+23C>T,-:0.42,-:0.401199,- 1 116247917 . A . . NT END=116260460;NT GT ./. 1 116260516 . C . . NT END=116268128;NT GT ./. 1 116260532 rs2997741 A T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=CASQ2/NM_001232.3/1;CC=c.784-17T>A;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:32:18:0:0:16,16:525,523:0.00,50.30:0.00,9.41:0.00,40.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,43.8:0,0:0,0:72,102:59,49:22,28:-,NM_001232.3(CASQ2) c.784-17T>A:-,0.65:-,0.599262 1 116260604 rs2997742 G A 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.3694,A/0.6306;Gene=CASQ2/NM_001232.3/1;CC=c.784-89C>T;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:5:0:0:8,11:254,377:23.60,0.00:2.91,0.00:20.69,0.00:0.99,0.00:0.93,0.00:1.00,0.00:60,60:56.1,6.4:0,0:0,0:92,90:56,60:29,34:NM_001232.3(CASQ2) c.784-89C>T,-:0.63,-:NOT_FOUND,- 1 116268175 . C . . NT END=116269612;NT GT ./. 1 116268178 . GA G 22 idl,rn VT=DEL;SST=Single;DP=58;PC=0.001;Gene=CASQ2/NM_001232.3/1;CC=c.738-5delT;VC=Intron;DM=CASQ2/Calsequestrin;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,GA,I,G:45:42:5:25:1,31,4,9:8,913,164,641:-0.13,0.00,9.41,22.26:-0.15,0.00,9.74,6.81:0.02,0.00,-0.33,15.44:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:55.0,23.3,10.5,62.0:0,0,1,12:0,0,0,0:111,115,77,72:12,24,53,70:0,27,36,20:-,NM_001232.3(CASQ2) c.738-5delT:-,NOT_FOUND:-,NOT_FOUND 1 116268283 rs4475752 C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4327,T/0.5673;Gene=CASQ2/NM_001232.3/1;CC=c.738-109G>A;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,T:16:3:0:0:11,5:379,170:0.00,15.07:0.00,1.54:0.00,13.53:0.00,0.88:0.00,0.70:0.00,0.99:60,60:10.4,57.0:0,0:0,0:77,98:74,53:24,21:-,NM_001232.3(CASQ2) c.738-109G>A:-,0.58:-,NOT_FOUND 1 116269331 rs6661781 C A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3031,A/0.6969;Gene=CASQ2/NM_001232.3/1;CC=c.737+282G>T;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,C,G:5:5:0:0:3,1,1:92,35,22:9.57,0.00,1.88:9.57,0.00,1.88:0.00,0.00,0.00:0.78,0.00,0.00:0.78,0.00,0.00:0.00,0.00,0.00:60,60,60:37.3,13.0,78.0:0,0,0:0,0,0:28,104,130:123,45,21:9,0,0:NM_001232.3(CASQ2) c.737+282G>T,-:0.7,-:NOT_FOUND,- 1 116269744 . C . . NT END=116275521;NT GT ./. 1 116275596 . C . . NT END=116280844;NT GT ./. 1 116280957 . C . . NT END=116283348;NT GT ./. 1 116283343 rs9428083 A G 121 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=in-clinvar;PAF=A/0.3564,G/0.6436;PC=0.186;Gene=CASQ2/NM_001232.3/1;CC=c.420+6T>C;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:24:0:0:33:1052:120.86:74.38:46.48:1.00:1.00:1.00:60:38.2:0:0:45:99:29:NM_001232.3(CASQ2) c.420+6T>C,NM_001232.3(CASQ2) c.420+6T>C:0.66,0.66:0.708442,0.708442 1 116283450 . C . . NT END=116287448;NT GT ./. 1 116283526 rs7538337 G A 56 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3564,A/0.6436;Gene=CASQ2/NM_001232.3/1;CC=c.320-77C>T;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:4:0:0:16:488:56.38:8.79:47.59:1.00:1.00:1.00:60:44.2:0:0:94:56:29:NM_001232.3(CASQ2) c.320-77C>T,NM_001232.3(CASQ2) c.320-77C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 116283625 rs7551613 A G 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3566,G/0.6434;Gene=CASQ2/NM_001232.3/1;CC=c.320-176T>C;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:0:0:0:8:230:26.76:0.00:26.76:1.00:0.00:1.00:60:59.2:0:0:119:30:23:NM_001232.3(CASQ2) c.320-176T>C,NM_001232.3(CASQ2) c.320-176T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 1 116287236 rs141172037 C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9982,G/0.001797;NP=4;PC=0.006;Gene=CASQ2/NM_001232.3/1;CC=c.319+213G>C;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,G:6:6:0:0:3,3:97,103:0.00,9.93:0.00,9.93:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:13.7,54.0:0,0:0,0:12,97:139,54:11,39:-,NM_001232.3(CASQ2) c.319+213G>C:-,0.0018:-,NOT_FOUND 1 116287534 . C . . NT END=116310928;NT GT ./. 1 116287682 rs9428211 T C 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.656,C/0.344;Gene=CASQ2/NM_001232.3/1;CC=c.235-149A>G;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:223:25.63:0.00:25.63:1.00:0.00:1.00:60:50.7:0:0:71:79:38:NM_001232.3(CASQ2) c.235-149A>G,NM_001232.3(CASQ2) c.235-149A>G:0.35,0.35:NOT_FOUND,NOT_FOUND 1 116310818 rs4484922 G C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5982,C/0.4018;Gene=CASQ2/NM_001232.3/1;CC=c.234+111C>G;VC=Intron;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:13:13:0:0:6,7:197,241:18.67,0.00:18.67,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:35.7,6.3:0,0:0,0:76,42:74,109:39,18:NM_001232.3(CASQ2) c.234+111C>G,-:0.41,-:NOT_FOUND,- 1 116310967 rs4074536 T C 62 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=in-clinvar;PAF=T/0.5988,C/0.4012;PC=0.257;Gene=CASQ2/NM_001232.3/1;CC=c.196A>G;ProtCh=p.T66A;VC=Missense;DM=CASQ2/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:38:0:0:22,25:656,735:61.82,0.00:43.89,0.00:17.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.3,8.2:0,0:0,0:60,53:89,95:23,32:NM_001232.3(CASQ2) c.196A>G (p.Thr66Ala),-:0.41,-:0.339382,- 1 116311163 . T . . NT END=116380585;NT GT ./. 1 116311198 rs4074537 T C 114 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.03754,C/0.9625;Gene=CASQ2/NM_001232.3/1;CC=c.-36A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:9:0:0:33:982:113.90:23.70:90.20:1.00:1.00:1.00:60:33.8:0:0:104:47:35:NM_001232.3(CASQ2) c.=,NM_001232.3(CASQ2) c.=:0.97,0.97:0.957077,0.957077 1 116380994 . T . . NT END=116519248;NT GT ./. 1 116393387 rs6680357 G C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5459,C/0.4541;PC=0.359 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:33.8:0:0:52:98:30:chr1 g.116393386G>C (intergenic),chr1 g.116393386G>C (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 1 116393528 rs10609483 AGTGT A,AGTGTGT 16 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=45;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:4:AGTGT,AGTGTGT,A:9:6:2:5:2,2,5:63,65,155:0.00,5.93,15.90:0.00,4.52,4.50:0.00,1.41,11.40:0.00,0.00,0.96:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:32.5,30.0,7.4:0,0,0:0,0,0:111,85,78:25,65,72:30,6,25:chr1 g.116393529_116393532delGTGT (intergenic),chr1 g.116393531_116393532dupGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 116399835 rs2811577 C T 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7097,T/0.2903 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:28:0:0:17,14:575,445:0.00,41.91:0.00,28.58:0.00,13.32:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.0,41.1:0,0:0,0:77,54:74,94:30,40:-,chr1 g.116399834C>T (intergenic):-,0.26:-,NOT_FOUND 1 116400329 rs2811578 C G 96 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6725,G/0.3275;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:10:0:0:25:845:96.42:27.38:69.05:1.00:1.00:1.00:60:34.6:0:0:98:52:24:chr1 g.116400328C>G (intergenic),chr1 g.116400328C>G (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 1 116519336 . G . . NT END=116534651;NT GT ./. 1 116534457 rs6697290 A G 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7404,G/0.2596;Gene=SLC22A15/NM_018420.2/1;CC=c.88-195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G:8:8:0:0:2,6:65,207:0.00,21.61:0.00,21.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,41.0:0,0:0,0:59,52:91,98:21,7:-,NM_018420.2(SLC22A15) c.88-195A>G:-,0.28:-,NOT_FOUND 1 116534865 . G . . NT END=116562202;NT GT ./. 1 116534952 rs10923941 G T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.739,T/0.261;PC=0.012;Gene=SLC22A15/NM_018420.2/1;CC=c.300+88G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:4:0:0:14,16:461,514:0.00,50.01:0.00,6.83:0.00,43.19:0.00,1.00:0.00,0.95:0.00,1.00:60,60:4.8,65.5:0,0:0,0:85,86:65,65:39,41:-,NM_018420.2(SLC22A15) c.300+88G>T:-,0.26:-,NOT_FOUND 1 116534953 rs10923942 C T 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.739,T/0.261;PC=0.006;Gene=SLC22A15/NM_018420.2/1;CC=c.300+89C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:29:3:0:0:1,13,15:10,411,499:0.08,0.00,48.67:-0.02,0.00,4.92:0.10,0.00,43.75:0.00,0.00,1.00:0.00,0.00,0.90:0.00,0.00,1.00:60,60,60:10.0,4.4,67.7:0,0,0:0,0,0:26,86,85:123,64,66:0,39,40:-,NM_018420.2(SLC22A15) c.300+89C>T:-,0.26:-,NOT_FOUND 1 116536080 rs2452549 C G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.04553,G/0.9545;Gene=SLC22A15/NM_018420.2/1;CC=c.300+1216C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:1:6:211:23.96:14.02:9.94:1.00:1.00:1.00:60:69.8:0:0:101:49:21:NM_018420.2(SLC22A15) c.300+1216C>G,NM_018420.2(SLC22A15) c.300+1216C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 116562336 . G . . NT END=116563341;NT GT ./. 1 116563507 . G . . NT END=116569513;NT GT ./. 1 116569530 rs2488429 G C 125 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.09665,C/0.9034;PC=1.000;Gene=SLC22A15/NM_018420.2/1;CC=c.615G>C;ProtCh=p.L205=;VC=Silent;DM=SLC22A15/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:100:71:0:0:40,59,1:1351,2019,22:125.16,0.00,0.50:70.23,0.00,0.63:54.92,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.6,9.1,60.0:0,0,0:0,0,0:72,80,150:70,68,1:31,37,0:NM_018420.2(SLC22A15) c.615G>C (p.(=)),-:0.91,-:0.927104,- 1 116569644 . G . . NT END=116573986;NT GT ./. 1 116574203 . G . . NT END=116574332;NT GT ./. 1 116574306 rs6666101 G A 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.3994,A/0.6006;Gene=SLC22A15/NM_018420.2/1;CC=c.944+104G>A;VC=Intron;DM=SLC22A15/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:54:0:0:38,34:1114,1166:107.67,0.00:63.45,0.00:44.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,3.3:0,0:0,0:57,54:91,87:39,32:NM_018420.2(SLC22A15) c.944+104G>A,-:0.63,-:NOT_FOUND,- 1 116575262 . C . . NT END=116577807;NT GT ./. 1 116577949 . G . . NT END=116579923;NT GT ./. 1 116577981 rs1935828 G A 143 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.03974,A/0.9603;Gene=SLC22A15/NM_018420.2/1;CC=c.1085+33G>A;VC=Intron;DM=SLC22A15/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:A:38:13:0:0:38:1253:143.42:34.44:108.98:1.00:1.00:1.00:60:38.7:0:0:105:32:29:NM_018420.2(SLC22A15) c.1085+33G>A,NM_018420.2(SLC22A15) c.1085+33G>A:0.97,0.97:0.964093,0.964093 1 116580010 . G . . NT END=116605382;NT GT ./. 1 116605423 rs3748743 C T 91 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.8724,T/0.1276;PC=1.000;Gene=SLC22A15/NM_018420.2/1;CC=c.1212C>T;ProtCh=p.S404=;VC=Silent;DM=SLC22A15/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:37:0:0:32,28:1063,953:0.00,90.66:0.00,37.37:0.00,53.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,42.9:0,0:0,0:71,80:73,71:21,30:-,NM_018420.2(SLC22A15) c.1212C>T (p.(=)):-,0.12:-,0.108278 1 116605504 . G . . NT END=116607056;NT GT ./. 1 116607130 . G . . NT END=116609140;NT GT ./. 1 116607254 rs1281748 G T 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.01797,T/0.982;Gene=SLC22A15/NM_018420.2/1;CC=c.1365+125G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:242:28.01:0.00:28.01:1.00:0.00:1.00:60:37.9:0:0:113:37:35:NM_018420.2(SLC22A15) c.1365+125G>T,NM_018420.2(SLC22A15) c.1365+125G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 116608903 rs1281745 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3938,A/0.6062;Gene=SLC22A15/NM_018420.2/1;CC=c.1366-238G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:5:5:0:0:3,2:97,67:9.67,0.00:9.67,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:32.3,0.0:0,0:0,0:69,10:82,140:37,10:NM_018420.2(SLC22A15) c.1366-238G>A,-:0.63,-:NOT_FOUND,- 1 116609126 rs397840859 TC T 116 nt VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2504;Gene=SLC22A15/NM_018420.2/1;CC=c.1366-11delC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:74:67:0:38:36,38:1137,1200:0.00,115.88:0.00,80.03:0.00,35.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,3.9:0,0:0,0:35,56:106,93:20,25:-,NM_018420.2(SLC22A15) c.1366-14delC:-,0.63:-,0.624324 1 116609330 . G . . NT END=116609639;NT GT ./. 1 116609730 . A . . NT END=116655236;NT GT ./. 1 116621677 rs2797397 C G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,G:6:6:0:0:3,3:102,106:0.00,10.23:0.00,4.96:0.00,5.26:0.00,0.73:0.00,0.73:0.00,0.96:60,60:4.0,58.7:0,0:0,0:72,116:79,24:16,6:-,chr1 g.116621676C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 116621681 rs113975382 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:6:5:0:0:4,2:111,72:0.00,6.50:0.00,3.25:0.00,3.25:0.00,0.89:0.00,0.86:0.00,0.86:60,60:12.0,76.5:0,0:0,0:62,123:88,25:25,3:-,chr1 g.116621680C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 116655183 rs374210490 G GA 10 rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;PC=0.001;Gene=MAB21L3/NM_152367.2/1;CC=c.-41dupA;VC=5UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:G,GA,D:25:21:4:2:20,4,1:653,127,31:0.00,9.91,1.83:0.00,8.86,0.85:0.00,1.05,0.98:0.00,0.67,0.00:0.00,0.94,0.00:0.00,0.79,0.00:60,60,60:6.7,3.2,34.0:0,0,0:0,0,0:30,97,55:113,53,95:21,16,0:-,NM_152367.2(MAB21L3) c.-41dupA:-,NOT_FOUND:-,NOT_FOUND 1 116655285 . G . . NT END=116663552;NT GT ./. 1 116655492 rs1146356 A G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7278,G/0.2722;Gene=MAB21L3/NM_152367.2/1;CC=c.48+208A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,C,G:9:0:0:0:5,1,3:173,10,98:0.00,0.33,8.92:0.00,0.00,0.00:0.00,0.33,8.92:0.00,0.00,0.64:0.00,0.00,0.00:0.00,0.00,0.64:60,60,60:10.4,99.0,32.7:0,0,0:0,0,0:114,93,99:37,55,52:5,0,47:-,NM_152367.2(MAB21L3) c.48+208A>G:-,0.24:-,NOT_FOUND 1 116663694 . G . . NT END=116666686;NT GT ./. 1 116663724 rs41275550 C T 73 nt VT=SNV;PN=A;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.9175,T/0.08247;Gene=MAB21L3/NM_152367.2/1;CC=c.189+31C>T;VC=Intron;DM=MAB21L3/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:12:0:0:27,23:839,766:0.00,72.62:0.00,13.49:0.00,59.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,35.1:0,0:0,0:106,84:45,67:20,24:-,NM_152367.2(MAB21L3) c.189+31C>T:-,0.08:-,0.064816 1 116666569 rs960675 T A 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5865,A/0.4135;Gene=MAB21L3/NM_152367.2/1;CC=c.190-118T>A;VC=Intron;DM=MAB21L3/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:30:30:0:0:13,17:440,515:41.30,0.00:39.79,0.00:1.51,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:41.3,8.9:0,0:0,0:83,63:68,87:39,26:NM_152367.2(MAB21L3) c.190-118T>A,-:0.39,-:NOT_FOUND,- 1 116666979 . G . . NT END=116670086;NT GT ./. 1 116669877 rs6668233 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6052,C/0.3948;Gene=MAB21L3/NM_152367.2/1;CC=c.482-210T>C;VC=Intron;DM=MAB21L3/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:C,T:8:8:0:0:5,3:143,73:14.38,0.00:14.38,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:55.0,0.0:0,0:0,0:38,34:111,117:28,14:NM_152367.2(MAB21L3) c.482-210T>C,-:0.37,-:NOT_FOUND,- 1 116670266 . G . . NT END=116670765;NT GT ./. 1 116670774 rs10754431 A G 134 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.5825,G/0.4175;PC=0.205;Gene=MAB21L3/NM_152367.2/1;CC=c.669A>G;ProtCh=p.G223=;VC=Silent;DM=MAB21L3/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:81:0:0:45,46:1372,1392:0.00,133.70:0.00,98.40:0.00,35.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,49.8:0,0:0,0:53,48:95,95:23,31:-,NM_152367.2(MAB21L3) c.669A>G (p.(=)):-,0.39:-,0.404352 1 116670961 . G . . NT END=116675752;NT GT ./. 1 116671061 rs10802157 A G 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5819,G/0.4181;Gene=MAB21L3/NM_152367.2/1;CC=c.855+101A>G;VC=Intron;DM=MAB21L3/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:5:0:0:23,20:776,592:0.00,55.81:0.00,6.68:0.00,49.12:0.00,1.00:0.00,0.95:0.00,1.00:60,60:8.0,40.2:0,0:0,0:121,102:30,47:20,32:-,NM_152367.2(MAB21L3) c.855+101A>G:-,0.39:-,NOT_FOUND 1 116675987 . T . . NT END=116916133;NT GT ./. 1 116676035 rs10802159 A C 54 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5791,C/0.4209;Gene=MAB21L3/NM_152367.2/1;CC=c.*49A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:6:0:0:25,18:772,577:0.00,53.58:0.00,0.98:0.00,52.60:0.00,1.00:0.00,0.95:0.00,1.00:60,60:3.1,45.3:0,0:0,0:112,106:39,44:22,23:-,NM_152367.2(MAB21L3) c.*49A>C:-,0.4:-,0.406168 1 116676143 rs41313286 A G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9054,G/0.09465;Gene=MAB21L3/NM_152367.2/1;CC=c.*157A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:A,G:9:0:0:0:5,4:153,138:0.00,13.02:0.00,0.00:0.00,13.02:0.00,0.85:0.00,0.00:0.00,0.85:60,60:19.0,44.2:0,0:0,0:116,93:34,57:14,12:-,NM_152367.2(MAB21L3) c.*157A>G:-,0.09:-,NOT_FOUND 1 116717148 rs59771815 GGT G 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:GGT,G:3:4:0:3:1,2:36,99:0.00,6.65:0.00,3.28:0.00,3.38:0.00,0.51:0.00,0.51:0.00,0.89:51,60:34.0,0.0:0,1:0,0:112,43:29,108:0,5:-,chr1 g.116717149_116717150delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 116916146 . G . . NT END=116916488;NT GT ./. 1 116916645 rs11289194 CT C 443 PASS VT=DEL;SST=Single;DP=141;DB;DBA=NA;PAF=CT/0.04752,C/0.9525;NP=319;PC=0.005;Gene=ATP1A1/NM_000701.7/0;CC=c.12+501delT;VC=Intron;Gene=ATP1A1/NM_001160233.1/1;CC=c.-206delT;VC=5UTR;DM=ATP1A1/Cation_ATPase_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:CT,C:141:98:0:130:11,130:274,3972:0.00,442.57:0.00,251.05:0.00,191.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.8,9.2:5,0:0,0:73,54:78,96:34,32:NM_001160233.1(ATP1A1) c.-206delT,NM_001160233.1(ATP1A1) c.-206delT:0.94,0.94:NOT_FOUND,NOT_FOUND 1 116916646 . TC C,T 18 idl VT=SNV;PN=C;NN=C;SST=Single;DP=10;PC=0.004;DM=ATP1A1/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:41:C,G,T:10:5:0:134:6,2,2:167,15,57:18.22,1.11,5.26:9.56,0.32,3.08:8.66,0.79,2.18:0.99,0.00,0.00:0.78,0.00,0.00:0.78,0.00,0.00:60,60,60:55.8,55.5,10.5:1,2,0:0,0,0:20,69,62:129,64,88:20,13,11:NM_001160233.1(ATP1A1) c.-206delT,NM_001160233.1(ATP1A1) c.-205C[1]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 116916864 . G . . NT END=116925991;NT GT ./. 1 116926051 . t . . NT END=116926635;NT GT ./. 1 116926747 . G . . NT END=116927404;NT GT ./. 1 116927465 . G . . NT END=116929909;NT GT ./. 1 116930114 . G . . NT END=116930752;NT GT ./. 1 116930867 . G . . NT END=116931259;NT GT ./. 1 116931395 . G . . NT END=116931523;NT GT ./. 1 116931642 . G . . NT END=116932060;NT GT ./. 1 116932330 . G . . NT END=116932834;NT GT ./. 1 116932563 rs850609 T A 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1901,A/0.8099;Gene=ATP1A1/NM_000701.7/0;CC=c.1023+234T>A;VC=Intron;Gene=ATP1A1/NM_001160233.1/1;CC=c.1023+234T>A;VC=Intron;Gene=ATP1A1/NM_001160234.1/0;CC=c.930+234T>A;VC=Intron;DM=ATP1A1/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:1:0:0:15:521:59.25:3.88:55.38:1.00:1.00:1.00:60:39.2:0:0:103:48:20:NM_001160233.1(ATP1A1) c.1023+234T>A,NM_001160233.1(ATP1A1) c.1023+234T>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 116933034 . G . . NT END=116933403;NT GT ./. 1 116933115 . CT C 11 rn VT=DEL;SST=Single;DP=56;NP=7;Gene=ATP1A1/NM_000701.7/0;CC=c.1222+94delT;VC=Intron;Gene=ATP1A1/NM_001160233.1/1;CC=c.1222+94delT;VC=Intron;Gene=ATP1A1/NM_001160234.1/0;CC=c.1129+94delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:CT,G,T,I,C:55:9:3:5:43,1,4,2,5:1187,10,80,82,154:0.00,-0.17,4.17,3.99,10.81:0.00,-0.04,-0.14,1.10,3.86:0.00,-0.13,4.31,2.89,6.95:0.00,0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.00,0.51:0.00,0.00,0.00,0.00,0.96:60,60,60,60,60:31.1,97.0,64.5,21.0,35.6:1,0,0,1,0:0,0,0,0,0:112,100,70,118,109:39,46,68,33,41:21,0,13,6,24:-,NM_001160233.1(ATP1A1) c.1222+83delT:-,NOT_FOUND:-,NOT_FOUND 1 116933158 . GT G 11 idl,rn VT=DEL;SST=Single;DP=33;NP=5;PC=0.288;Gene=ATP1A1/NM_000701.7/0;CC=c.1222+139delT;VC=Intron;Gene=ATP1A1/NM_001160233.1/1;CC=c.1222+139delT;VC=Intron;Gene=ATP1A1/NM_001160234.1/0;CC=c.1129+139delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,GT,T,I,G:32:2:5:5:1,19,3,4,5:8,531,46,162,139:-0.09,0.00,2.31,10.18,10.85:-0.01,0.00,0.33,-0.06,-0.07:-0.08,0.00,1.98,10.24,10.92:0.00,0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.00,0.40:0.00,0.00,0.00,0.00,0.98:18,60,60,60,60:215.0,32.5,114.3,65.0,35.4:0,0,0,1,0:0,0,0,0,0:77,122,105,115,122:63,28,17,36,28:0,21,8,15,4:-,NM_001160233.1(ATP1A1) c.1222+126delT:-,NOT_FOUND:-,NOT_FOUND 1 116933514 . G . . NT END=116935475;NT GT ./. 1 116935611 . G . . NT END=116936152;NT GT ./. 1 116936346 . G . . NT END=116937731;NT GT ./. 1 116937908 . G . . NT END=116939219;NT GT ./. 1 116939357 . G . . NT END=116940509;NT GT ./. 1 116940481 . C CT 15 idl,rn VT=INS;SST=Single;DP=62;NP=5;PC=0.059;Gene=ATP1A1/NM_000701.7/0;CC=c.1974-14dupT;VC=Intron;Gene=ATP1A1/NM_001160233.1/1;CC=c.1974-14dupT;VC=Intron;Gene=ATP1A1/NM_001160234.1/0;CC=c.1881-14dupT;VC=Intron;Gene=ATP1A1-AS1/NR_027646.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T,CT,D:57:50:7:11:42,2,7,6:1335,22,206,342:0.00,0.05,15.14,14.23:0.00,-0.45,6.43,13.44:0.00,0.50,8.71,0.79:0.00,0.00,0.90,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.90,0.00:60,60,60,60:29.3,28.0,46.3,35.2:0,0,0,5:0,0,0,0:51,42,68,36:94,107,82,114:32,36,25,19:-,NM_001160233.1(ATP1A1) c.1974-29_1974-28insT:-,NOT_FOUND:-,NOT_FOUND 1 116940661 . G . . NT END=116941242;NT GT ./. 1 116941412 . G . . NT END=116941551;NT GT ./. 1 116941707 . G . . NT END=116942041;NT GT ./. 1 116942166 . G . . NT END=116943482;NT GT ./. 1 116943629 . G . . NT END=116943750;NT GT ./. 1 116943883 . G . . NT END=116944175;NT GT ./. 1 116944278 . G . . NT END=116946505;NT GT ./. 1 116946598 . G . . NT END=116947037;NT GT ./. 1 116947442 . T . . NT END=117057434;NT GT ./. 1 117057445 . C . . NT END=117061321;NT GT ./. 1 117061486 . g . . NT END=117061697;NT GT ./. 1 117061925 . C . . NT END=117064527;NT GT ./. 1 117064606 . C . . NT END=117078586;NT GT ./. 1 117078462 rs398049589 CA C 12 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.058;Gene=CD58/NM_001779.2/1;CC=c.628+124delT;VC=Intron;Gene=CD58/NR_026665.1/0;VC=NonCoding;Gene=CD58/NM_001144822.1/0;CC=c.628+124delT;VC=Intron;RN=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:CA,I,C:14:16:3:5:8,2,4:275,92,158:0.00,4.49,11.50:0.00,4.49,11.50:0.00,0.00,0.00:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,0.00:60,60,60:40.1,112.5,27.5:0,1,1:0,0,0:52,26,39:89,92,110:33,10,30:-,NM_001779.2(CD58) c.628+124delT:-,NOT_FOUND:-,NOT_FOUND 1 117078851 . C . . NT END=117086932;NT GT ./. 1 117087227 . C . . NT END=117113524;NT GT ./. 1 117113595 . G . . NT END=117119933;NT GT ./. 1 117120185 . C . . NT END=117122013;NT GT ./. 1 117122500 . C . . NT END=117127266;NT GT ./. 1 117127675 . C . . NT END=117131315;NT GT ./. 1 117131727 . C . . NT END=117142562;NT GT ./. 1 117142531 rs631461 G A 149 nt VT=SNV;PN=T;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.3089,A/0.6911;Gene=IGSF3/NM_001542.3/0;CC=c.2089+32C>T;VC=Intron;Gene=IGSF3/NM_001007237.2/1;CC=c.2029+32C>T;VC=Intron;DM=IGSF3/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:96:0:0:51,58:1570,1941:148.54,0.00:103.78,0.00:44.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,13.3:0,0:0,0:35,41:113,108:22,24:NM_001542.2(IGSF3) c.2089+32C>T,-:0.68,-:0.624154,- 1 117142613 rs76151115 C T 30 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=NA;NP=256;PC=0.789;Gene=IGSF3/NM_001542.3/0;CC=c.2039G>A;ProtCh=p.R680Q;VC=Missense;Gene=IGSF3/NM_001007237.2/1;CC=c.1979G>A;ProtCh=p.R660Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,T:161:126:0:0:148,13:4812,437:0.00,30.30:0.00,20.12:0.00,10.18:0.00,0.99:0.00,1.00:0.00,1.00:60,41:13.6,81.8:0,0:0,0:81,55:66,94:31,11:-,NM_001542.2(IGSF3) c.2039G>A (p.Arg680Gln):-,NOT_FOUND:-,NOT_FOUND 1 117142641 rs76417519 G A 31 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=153;PC=1.000;Gene=IGSF3/NM_001542.3/0;CC=c.2011C>T;ProtCh=p.R671W;VC=Missense;Gene=IGSF3/NM_001007237.2/1;CC=c.1951C>T;ProtCh=p.R651W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,G,T:167:126:0:0:13,153,1:442,4819,36:30.64,0.00,1.46:16.54,0.00,0.72:14.10,0.00,0.75:0.99,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,60,55:82.7,10.0,36.0:0,0,0:0,0,0:83,71,99:66,76,52:22,35,0:NM_001542.2(IGSF3) c.2011C>T (p.Arg671Trp),-:NOT_FOUND,-:NOT_FOUND,- 1 117142968 . C . . NT END=117146245;NT GT ./. 1 117146160 . C G 134 nt VT=SNV;PN=A;NN=T;SST=Single;DP=76;PC=0.003;Gene=IGSF3/NM_001542.3/0;CC=c.1684+86G>C;VC=Intron;Gene=IGSF3/NM_001007237.2/1;CC=c.1624+86G>C;VC=Intron;DM=IGSF3/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:76:75:0:0:35,41:1169,1369:0.00,133.65:0.00,120.96:0.00,12.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,40.4:0,0:0,0:59,55:90,96:27,21:-,NM_001542.2(IGSF3) c.1684+86G>C:-,NOT_FOUND:-,NOT_FOUND 1 117146648 . C . . NT END=117149113;NT GT ./. 1 117149174 . c . . NT END=117150563;NT GT ./. 1 117150954 . C . . NT END=117156386;NT GT ./. 1 117156798 . C . . NT END=117158701;NT GT ./. 1 117159080 . C . . NT END=117159850;NT GT ./. 1 117159987 . A . . NT END=117208905;NT GT ./. 1 117208949 . G . . NT END=117236751;NT GT ./. 1 117236820 . G . . NT END=117237380;NT GT ./. 1 117237478 . G . . NT END=117249078;NT GT ./. 1 117249155 . C . . NT END=117297114;NT GT ./. 1 117256697 rs9887785 A C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4215,C/0.5785;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C:11:5:0:0:8,3:223,101:0.00,8.74:0.00,4.31:0.00,4.43:0.00,0.60:0.00,0.78:0.00,0.86:60,60:1.1,33.7:0,0:0,0:90,99:61,52:22,46:-,chr1 g.117256696A>C (intergenic):-,0.58:-,NOT_FOUND 1 117296761 . A C 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,C:4:4:0:0:2,2:42,66:0.00,6.37:0.00,6.37:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:39.5,33.0:0,0:0,0:13,50:136,100:8,9:-,NM_001767.3(CD2) c.-29-u325A>C:-,NOT_FOUND:-,NOT_FOUND 1 117297176 . G . . NT END=117297252;NT GT ./. 1 117297574 . G . . NT END=117303023;NT GT ./. 1 117297784 rs2236323 A G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6889,G/0.3111;Gene=CD2/NM_001767.3/1;CC=c.382+211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:177:20.08:0.00:20.08:1.00:0.00:1.00:60:64.8:0:0:115:36:15:NM_001767.3(CD2) c.382+211A>G,NM_001767.3(CD2) c.382+211A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 117303255 . G . . NT END=117307027;NT GT ./. 1 117307229 . G . . NT END=117311085;NT GT ./. 1 117311406 . A . . NT END=117452825;NT GT ./. 1 117343911 rs57646914 A AAC 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=24;PC=0.911;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,AAC:5:4:3:0:2,3:66,87:0.00,8.67:0.00,3.79:0.00,4.88:0.00,0.78:0.00,0.97:0.00,0.87:60,70:15.5,10.3:0,0:0,0:86,83:64,64:57,4:-,chr1 g.117343911_117343912insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 117396934 rs78321947 T TACAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2524,TAC/0.7476,TACAC/.;DB;DBA=NA;PAF=T/0.2524,TAC/0.7476,TACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=30;NP=377;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:T,TACAC:4:4:2:0:2,2:63,68:0.00,6.55:0.00,3.28:0.00,3.28:0.00,0.51:0.00,0.51:0.00,0.51:60,60:18.0,0.0:0,0:0,0:42,61:86,58:0,10:-,chr1 g.117396934_117396935insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 117420802 rs58329966 AGT A,AGTGT 8 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=8;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:AGT,AGTGT,A:5:3:1:4:1,1,3:34,35,113:0.00,3.12,8.02:0.00,-0.04,4.26:0.00,3.16,3.76:0.00,0.00,0.73:0.00,0.00,0.89:0.00,0.00,0.96:60,60,60:24.0,0.0,13.7:0,0,1:0,0,0:24,31,50:84,120,101:0,0,19:chr1 g.117420803_117420804delGT (intergenic),chr1 g.117420803_117420804dupGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 117435020 rs12726592 C T 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7306,T/0.2694;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C,T:7:5:0:0:1,6:8,201:0.00,21.85:0.00,8.52:0.00,13.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,35.0:0,0:0,0:112,43:39,97:0,18:chr1 g.117435019C>T (intergenic),chr1 g.117435019C>T (intergenic):0.26,0.26:NOT_FOUND,NOT_FOUND 1 117452875 . G . . NT END=117484336;NT GT ./. 1 117484706 . G . . NT END=117487300;NT GT ./. 1 117487607 rs142424201 A G 270 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=A/0.999,G/0.0009984;NP=39;PC=1.000;Gene=PTGFRN/NM_020440.3/1;CC=c.725A>G;ProtCh=p.Q242R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:200:116:0:0:105,1,94:3448,32,2855:0.00,1.17,270.35:0.00,-0.09,102.72:0.00,1.26,167.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,43.0,49.4:0,0,0:0,0,0:73,59,88:72,90,57:35,0,35:-,NM_020440.2(PTGFRN) c.725A>G (p.Gln242Arg):-,0.0027:-,0.004767 1 117487710 rs10159095 A G 467 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.1406,G/0.8594;Gene=PTGFRN/NM_020440.3/1;CC=c.828A>G;ProtCh=p.P276=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:125:53:0:0:125:4079:467.40:123.00:344.41:1.00:1.00:1.00:60:78.3:0:0:88:54:31:NM_020440.2(PTGFRN) c.828A>G (p.(=)),NM_020440.2(PTGFRN) c.828A>G (p.(=)):0.78,0.78:0.644802,0.644802 1 117487711 rs4546904 T A 437 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.1406,A/0.8594;PC=0.998;Gene=PTGFRN/NM_020440.3/1;CC=c.829T>A;ProtCh=p.S277T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:124:52:0:0:124:3787:437.44:124.25:313.19:1.00:1.00:1.00:60:77.7:0:0:93:47:28:NM_020440.2(PTGFRN) c.829T>A (p.Ser277Thr),NM_020440.2(PTGFRN) c.829T>A (p.Ser277Thr):0.78,0.78:0.640363,0.640363 1 117487715 . G . . NT END=117491813;NT GT ./. 1 117487884 rs10923173 G A 93 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.3311,A/0.6689;PC=0.001;Gene=PTGFRN/NM_020440.3/1;CC=c.832+170G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:1:0:0:25:808:92.72:3.78:88.94:1.00:1.00:1.00:60:37.6:0:0:106:45:27:NM_020440.2(PTGFRN) c.832+170G>A,NM_020440.2(PTGFRN) c.832+170G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 117491589 rs10801916 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3223,C/0.6777;Gene=PTGFRN/NM_020440.3/1;CC=c.833-225T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:389:44.62:44.62:0.00:1.00:1.00:0.00:60:39.8:0:0:29:113:15:NM_020440.2(PTGFRN) c.833-225T>C,NM_020440.2(PTGFRN) c.833-225T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 117492195 . G . . NT END=117503864;NT GT ./. 1 117504291 . G . . NT END=117509532;NT GT ./. 1 117509953 . G . . NT END=117516837;NT GT ./. 1 117516946 . G . . NT END=117527301;NT GT ./. 1 117527099 rs4659327 A T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8121,T/0.1879;PC=0.030;Gene=PTGFRN/NM_020440.3/1;CC=c.2168-203A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,T:13:13:0:0:8,5:260,136:0.00,12.20:0.00,12.20:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:29.9,43.8:0,0:0,0:57,75:91,76:37,17:-,NM_020440.2(PTGFRN) c.2168-203A>T:-,0.18:-,NOT_FOUND 1 117527152 rs72699131 A T 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8363,T/0.1637;Gene=PTGFRN/NM_020440.3/1;CC=c.2168-150A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:23:23:0:0:11,12:358,361:0.00,34.88:0.00,34.88:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.3,39.5:0,0:0,0:34,75:116,75:16,39:-,NM_020440.2(PTGFRN) c.2168-150A>T:-,0.19:-,NOT_FOUND 1 117527608 . G . . NT END=117529422;NT GT ./. 1 117529458 rs10801922 G A 120 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.502,A/0.498;PC=0.796;Gene=PTGFRN/NM_020440.3/1;CC=c.2509G>A;ProtCh=p.V837I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:63:0:0:38,38:1242,1177:119.50,0.00:86.92,0.00:32.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,10.6:0,0:0,0:46,43:104,103:33,23:NM_020440.2(PTGFRN) c.2509G>A (p.Val837Ile),-:0.49,-:0.400046,- 1 117529590 . G . . NT END=117544439;NT GT ./. 1 117544483 . G . . NT END=117552471;NT GT ./. 1 117552853 . G . . NT END=117554171;NT GT ./. 1 117554421 rs3754112 A G 160 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.8496,G/0.1504;PC=0.989;Gene=CD101/NM_001256106.2/0;CC=c.674A>G;ProtCh=p.N225S;VC=Missense;Gene=CD101/NM_001256109.2/0;CC=c.674A>G;ProtCh=p.N225S;VC=Missense;Gene=CD101/NM_001256111.2/1;CC=c.488A>G;ProtCh=p.N163S;VC=Missense;Gene=CD101/NM_004258.5/0;CC=c.674A>G;ProtCh=p.N225S;VC=Missense;DM=CD101/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:116:92:0:0:64,52:2026,1697:0.00,159.81:0.00,96.75:0.00,63.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,40.0:0,0:0,0:64,62:83,84:34,40:-,NM_004258.4(CD101) c.674A>G (p.Asn225Ser):-,0.17:-,0.244964 1 117554589 . G . . NT END=117556027;NT GT ./. 1 117555898 rs2764849 G A 81 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.007588,A/0.9924;Gene=CD101/NM_001256106.2/0;CC=c.842-130G>A;VC=Intron;Gene=CD101/NM_001256109.2/0;CC=c.842-130G>A;VC=Intron;Gene=CD101/NM_001256111.2/1;CC=c.656-130G>A;VC=Intron;Gene=CD101/NM_004258.5/0;CC=c.842-130G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:22:0:0:22:710:81.49:79.60:1.89:1.00:1.00:1.00:60:38.0:0:0:35:116:24:NM_004258.4(CD101) c.842-130G>A,NM_004258.4(CD101) c.842-130G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 117556415 . G . . NT END=117559711;NT GT ./. 1 117556850 rs55737099 T TGTGTGA 12 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=CD101/NM_001256106.2/0;CC=c.1228+437_1228+438insTGTGAG;VC=Intron;Gene=CD101/NM_001256109.2/0;CC=c.1228+437_1228+438insTGTGAG;VC=Intron;Gene=CD101/NM_001256111.2/1;CC=c.1042+437_1042+438insTGTGAG;VC=Intron;Gene=CD101/NM_004258.5/0;CC=c.1228+437_1228+438insTGTGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:T,TGTGTGA:7:3:6:0:3,4:99,191:0.00,12.43:0.00,7.00:0.00,5.43:0.00,0.85:0.00,0.84:0.00,0.98:60,70:8.0,23.2:0,2:0,0:73,80:77,62:18,41:-,NM_004258.4(CD101) c.1228+436_1228+437insGTGTGA:-,NOT_FOUND:-,NOT_FOUND 1 117559726 rs2249265 A G 339 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.0647,G/0.9353;Gene=CD101/NM_001256106.2/0;CC=c.1243A>G;ProtCh=p.M415V;VC=Missense;Gene=CD101/NM_001256109.2/0;CC=c.1243A>G;ProtCh=p.M415V;VC=Missense;Gene=CD101/NM_001256111.2/1;CC=c.1057A>G;ProtCh=p.M353V;VC=Missense;Gene=CD101/NM_004258.5/0;CC=c.1243A>G;ProtCh=p.M415V;VC=Missense;DM=CD101/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:87:0:0:98:2928:338.76:243.14:95.62:1.00:1.00:1.00:60:38.8:0:0:48:100:33:NM_004258.4(CD101) c.1243A>G (p.Met415Val),NM_004258.4(CD101) c.1243A>G (p.Met415Val):0.92,0.92:0.975088,0.975088 1 117560096 . G . . NT END=117560777;NT GT ./. 1 117560542 rs3767787 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6556,G/0.3444;PC=0.976;Gene=CD101/NM_001256106.2/0;CC=c.1613-236A>G;VC=Intron;Gene=CD101/NM_001256109.2/0;CC=c.1613-236A>G;VC=Intron;Gene=CD101/NM_001256111.2/1;CC=c.1427-236A>G;VC=Intron;Gene=CD101/NM_004258.5/0;CC=c.1613-236A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:9:7:0:0:4,5:134,160:0.00,15.70:0.00,12.33:0.00,3.37:0.00,0.96:0.00,0.99:0.00,0.84:60,60:0.0,84.2:0,0:0,0:27,40:123,110:6,24:-,NM_004258.4(CD101) c.1613-236A>G:-,0.34:-,NOT_FOUND 1 117560818 rs3736908 A G 209 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.6556,G/0.3444;PC=0.001;Gene=CD101/NM_001256106.2/0;CC=c.1653A>G;ProtCh=p.Q551=;VC=Silent;Gene=CD101/NM_001256109.2/0;CC=c.1653A>G;ProtCh=p.Q551=;VC=Silent;Gene=CD101/NM_001256111.2/1;CC=c.1467A>G;ProtCh=p.Q489=;VC=Silent;Gene=CD101/NM_004258.5/0;CC=c.1653A>G;ProtCh=p.Q551=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:123:101:0:0:59,64:1862,2155:0.00,209.08:0.00,141.15:0.00,67.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,50.7:0,0:0,0:71,54:76,96:35,32:-,NM_004258.4(CD101) c.1653A>G (p.(=)):-,0.34:-,0.210057 1 117560929 rs3736907 C A 190 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.7903,A/0.2097;Gene=CD101/NM_001256106.2/0;CC=c.1764C>A;ProtCh=p.I588=;VC=Silent;Gene=CD101/NM_001256109.2/0;CC=c.1764C>A;ProtCh=p.I588=;VC=Silent;Gene=CD101/NM_001256111.2/1;CC=c.1578C>A;ProtCh=p.I526=;VC=Silent;Gene=CD101/NM_004258.5/0;CC=c.1764C>A;ProtCh=p.I588=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:132:83:0:0:65,67:1991,2245:190.23,0.00:109.41,0.00:80.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.4,6.0:0,0:0,0:103,71:48,80:30,38:NM_004258.4(CD101) c.1764C>A (p.(=)),-:0.2,-:0.175765,- 1 117561183 . G . . NT END=117564194;NT GT ./. 1 117564606 . G . . NT END=117568130;NT GT ./. 1 117568217 rs17229382 G A 136 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.9922,A/0.007788;Gene=CD101/NM_001256106.2/0;CC=c.2515G>A;ProtCh=p.V839I;VC=Missense;Gene=CD101/NM_001256109.2/0;CC=c.2515G>A;ProtCh=p.V839I;VC=Missense;Gene=CD101/NM_001256111.2/1;CC=c.2329G>A;ProtCh=p.V777I;VC=Missense;Gene=CD101/NM_004258.5/0;CC=c.2515G>A;ProtCh=p.V839I;VC=Missense;Gene=LOC101929099/NR_110786.1/0;VC=NonCoding;DM=CD101/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:117:85:0:0:47,70:1480,2260:136.19,0.00:77.59,0.00:58.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,13.8:0,0:0,0:70,75:81,69:25,41:NM_004258.4(CD101) c.2515G>A (p.Val839Ile),-:0.01,-:0.013455,- 1 117568527 . G . . NT END=117576481;NT GT ./. 1 117576724 . A . . NT END=117602968;NT GT ./. 1 117602960 rs2244501 C A 202 nt VT=SNV;PN=A;NN=C;SST=Single;DP=150;DB;DBA=NA;PAF=C/0.2674,A/0.7326;Gene=TTF2/NM_003594.3/1;CC=c.-9C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:150:126:0:0:70,80:2136,2550:201.98,0.00:145.40,0.00:56.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,9.3:0,0:0,0:61,59:79,83:26,26:NM_003594.3(TTF2) c.-9C>A,-:0.77,-:0.729509,- 1 117602997 . G . . NT END=117603076;NT GT ./. 1 117603180 . G . . NT END=117605008;NT GT ./. 1 117605096 . G . . NT END=117616282;NT GT ./. 1 117605130 . CTT C 10 idl,rn VT=DEL;SST=Single;DP=22;PC=0.522;Gene=TTF2/NM_003594.3/1;CC=c.218+48_218+49delTT;VC=Intron;DM=TTF2/Helicase_C;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:CTT,I,C:20:13:1:6:15,1,4:462,33,195:0.00,2.13,10.44:0.00,1.12,5.14:0.00,1.02,5.30:0.00,0.00,0.96:0.00,0.00,0.87:0.00,0.00,0.94:60,60,60:11.3,0.0,2.8:0,0,2:0,0,0:120,129,96:15,21,54:25,0,12:-,NM_003594.3(TTF2) c.218+36_218+37delTT:-,NOT_FOUND:-,NOT_FOUND 1 117616350 . G . . NT END=117617491;NT GT ./. 1 117618482 . G . . NT END=117618801;NT GT ./. 1 117618722 rs1289672 T C 73 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.007788,C/0.9922;Gene=TTF2/NM_003594.3/1;CC=c.1276-80T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A,C:22:17:0:0:1,21:18,635:0.97,72.94:0.00,56.26:0.97,16.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,48.1:0,0:0,0:135,51:15,99:0,31:NM_003594.3(TTF2) c.1276-80T>C,NM_003594.3(TTF2) c.1276-80T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 117618917 . G . . NT END=117619262;NT GT ./. 1 117619446 . G . . NT END=117620537;NT GT ./. 1 117620666 . G . . NT END=117622189;NT GT ./. 1 117622272 . G . . NT END=117624449;NT GT ./. 1 117622286 rs2801939 A G 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.4605,G/0.5395;Gene=TTF2/NM_003594.3/1;CC=c.1783+15A>G;VC=Intron;DM=TTF2/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:30:0:0:21,24:683,807:0.00,78.65:0.00,31.65:0.00,47.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,44.0:0,0:0,0:107,93:43,51:24,29:-,NM_003594.3(TTF2) c.1783+15A>G:-,0.57:-,0.536675 1 117624570 . G . . NT END=117626639;NT GT ./. 1 117626791 . G . . NT END=117629038;NT GT ./. 1 117626945 rs2764856 G C 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=TTF2/NM_003594.3/1;CC=c.2054+155G>C;VC=Intron;DM=TTF2/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:0:0:0:17:552:63.27:0.00:63.27:1.00:0.00:1.00:60:53.4:0:0:107:44:28:NM_003594.3(TTF2) c.2054+155G>C,NM_003594.3(TTF2) c.2054+155G>C:1,1:NOT_FOUND,NOT_FOUND 1 117629145 . G . . NT END=117631422;NT GT ./. 1 117631391 rs1555792 T C 124 nt VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.09145,C/0.9085;Gene=TTF2/NM_003594.3/1;CC=c.2161-32T>C;VC=Intron;DM=TTF2/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:66:0:0:39,36:1281,1136:124.13,0.00:78.49,0.00:45.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,5.9:0,0:0,0:41,57:106,92:20,32:NM_003594.3(TTF2) c.2161-32T>C,-:0.9,-:0.865447,- 1 117631605 . G . . NT END=117632676;NT GT ./. 1 117632831 . G . . NT END=117633153;NT GT ./. 1 117633246 . G . . NT END=117633949;NT GT ./. 1 117633366 rs2296447 T C 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8794,C/0.1206;Gene=TTF2/NM_003594.3/1;CC=c.2588+121T>C;VC=Intron;DM=TTF2/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:10,7:326,215:32.37,0.00:0.00,0.00:32.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.7,0.0:0,0:0,0:58,135:92,15:45,6:NM_003594.3(TTF2) c.2588+121T>C,-:0.14,-:NOT_FOUND,- 1 117633918 rs41276570 C T 85 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.9912,T/0.008786;Gene=TTF2/NM_003594.3/1;CC=c.2589-32C>T;VC=Intron;DM=TTF2/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:36:0:0:16,26:536,851:0.00,85.38:0.00,56.82:0.00,28.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,39.6:0,0:0,0:49,73:102,77:38,43:-,NM_003594.3(TTF2) c.2589-32C>T:-,0.01:-,0.018761 1 117634033 . G . . NT END=117634438;NT GT ./. 1 117634573 . G . . NT END=117635352;NT GT ./. 1 117635524 . G . . NT END=117637930;NT GT ./. 1 117637990 . G . . NT END=117638770;NT GT ./. 1 117638922 . G . . NT END=117639972;NT GT ./. 1 117639828 rs11330257 TA T 33 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TA/0.7338,T/0.2662;NP=634;PC=0.003;Gene=TTF2/NM_003594.3/1;CC=c.3187-134delA;VC=Intron;DM=TTF2/Helicase_C;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:TA,T:14:14:0:10:4,10:125,317:0.00,32.83:0.00,32.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:0.0,5.1:0,0:0,0:65,60:85,89:33,31:-,NM_003594.3(TTF2) c.3187-144delA:-,NOT_FOUND:-,NOT_FOUND 1 117640056 . G . . NT END=117641454;NT GT ./. 1 117641530 . G . . NT END=117644001;NT GT ./. 1 117644147 . C . . NT END=117654926;NT GT ./. 1 117654638 rs12118664 G T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6739,T/0.3261;PC=0.004;Gene=TRIM45/NM_001145635.1/0;CC=c.*289C>A;VC=3UTR;Gene=TRIM45/NM_025188.3/1;CC=c.*289C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:G,T:9:9:0:0:4,5:124,141:0.00,13.79:0.00,13.79:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,70:3.2,48.8:0,0:0,0:23,53:127,96:22,17:-,NM_025188.3(TRIM45) c.*289C>A:-,0.32:-,NOT_FOUND 1 117654777 rs573679930 ATAAC A 25 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=ATAAC/0.768,A/0.232;DB;DBA=NA;PAF=ATAAC/0.768,A/0.232;NP=423;PC=0.001;Gene=TRIM45/NM_001145635.1/0;CC=c.*146_*149delGTTA;VC=3UTR;Gene=TRIM45/NM_025188.3/1;CC=c.*146_*149delGTTA;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAAC,A:27:27:0:9:18,9:552,286:0.00,25.44:0.00,25.44:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,70:4.8,6.3:0,0:0,0:63,53:87,97:28,31:-,NM_025188.3(TRIM45) c.*142GTTA[1]:-,0.24:-,NOT_FOUND 1 117655076 . C . . NT END=117655980;NT GT ./. 1 117656088 rs1289658 A G 209 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.5549,G/0.4451;PC=0.023;Gene=TRIM45/NM_001145635.1/0;CC=c.1433T>C;ProtCh=p.M478T;VC=Missense;Gene=TRIM45/NM_025188.3/1;CC=c.1487T>C;ProtCh=p.M496T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:123:78:0:0:56,67:1774,2140:0.00,209.20:0.00,95.34:0.00,113.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,40.2:0,0:0,0:97,89:49,62:26,44:-,NM_025188.3(TRIM45) c.1487T>C (p.Met496Thr):-,0.42:-,0.475704 1 117656108 . C . . NT END=117658196;NT GT ./. 1 117656276 rs1290530 A G 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5903,C/.,G/0.4097;Gene=TRIM45/NM_001145635.1/0;CC=c.1414-169T>C;VC=Intron;Gene=TRIM45/NM_025188.3/1;CC=c.1468-169T>C;VC=Intron;DM=TRIM45/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:0:0:0:9,13:297,375:0.00,37.16:0.00,0.00:0.00,37.16:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.6,31.0:0,0:0,0:85,72:65,79:36,35:-,NM_025188.3(TRIM45) c.1468-169T>C:-,0.38:-,NOT_FOUND 1 117658312 . C . . NT END=117659237;NT GT ./. 1 117659352 rs3738413 C T 162 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.9087,T/0.09125;PC=0.628;Gene=TRIM45/NM_001145635.1/0;CC=c.1184G>A;ProtCh=p.R395Q;VC=Missense;Gene=TRIM45/NM_025188.3/1;CC=c.1238G>A;ProtCh=p.R413Q;VC=Missense;DM=TRIM45/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:65:0:0:56,51:1748,1697:0.00,161.88:0.00,73.92:0.00,87.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,42.5:0,0:0,0:99,101:48,49:25,29:-,NM_025188.3(TRIM45) c.1238G>A (p.Arg413Gln):-,0.1:-,0.091189 1 117659368 . C . . NT END=117660655;NT GT ./. 1 117660608 rs1289655 C T 96 nt VT=SNV;PN=A;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.132,T/0.868;Gene=TRIM45/NM_001145635.1/0;CC=c.1168+102G>A;VC=Intron;Gene=TRIM45/NM_025188.3/1;CC=c.1222+48G>A;VC=Intron;DM=TRIM45/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:58:0:0:37,33:1212,1013:0.00,95.92:0.00,71.63:0.00,24.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,35.3:0,0:0,0:48,44:99,100:24,27:-,NM_025188.3(TRIM45) c.1222+48G>A:-,0.87:-,0.873443 1 117660754 rs749902 C T 191 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.7754,T/0.2246;PC=0.990;Gene=TRIM45/NM_001145635.1/0;CC=c.1124G>A;ProtCh=p.C375Y;VC=Missense;Gene=TRIM45/NM_025188.3/1;CC=c.1124G>A;ProtCh=p.C375Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:145:107:0:0:80,65:2622,2038:0.00,191.45:0.00,115.38:0.00,76.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,38.0:0,0:0,0:71,52:73,90:30,33:-,NM_025188.3(TRIM45) c.1124G>A (p.Cys375Tyr):-,0.23:-,0.29571 1 117661390 . C . . NT END=117663335;NT GT ./. 1 117663824 . A . . NT END=117690279;NT GT ./. 1 117663913 rs3795655 C T 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.2334,T/0.7666;PC=0.045;Gene=TRIM45/NM_001145635.1/0;CC=c.-90G>A;VC=5UTR;Gene=TRIM45/NM_025188.3/1;CC=c.-90G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:16:0:0:24,22:764,728:0.00,69.49:0.00,6.67:0.00,62.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,37.6:0,0:0,0:108,99:42,50:25,17:-,NM_025188.3(TRIM45) c.-90G>A:-,0.76:-,NOT_FOUND 1 117690272 rs10754339 G A 125 nt VT=SNV;PN=C;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.2654,A/0.7346;Gene=VTCN1/NM_001253849.1/0;CC=c.*8C>T;VC=3UTR;Gene=VTCN1/NM_001253850.1/0;CC=c.*8C>T;VC=3UTR;Gene=VTCN1/NM_024626.3/1;CC=c.*8C>T;VC=3UTR;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:75:0:0:42,52:1334,1531:125.45,0.00:78.66,0.00:46.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,12.6:0,0:0,0:70,51:78,97:35,29:NM_024626.3(VTCN1) c.*8C>T,-:0.76,-:0.751269,- 1 117690405 . C . . NT END=117695712;NT GT ./. 1 117695992 . C . . NT END=117699195;NT GT ./. 1 117696037 rs2051047 G A 161 nt VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.7352,A/0.2648;Gene=VTCN1/NM_001253849.1/0;CC=c.161-46C>T;VC=Intron;Gene=VTCN1/NM_001253850.1/0;CC=c.98-46C>T;VC=Intron;Gene=VTCN1/NM_024626.3/1;CC=c.446-46C>T;VC=Intron;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:39:0:0:52,48:1665,1480:161.26,0.00:39.47,0.00:121.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,14.3:0,0:0,0:102,114:47,36:19,22:NM_024626.3(VTCN1) c.446-46C>T,-:0.23,-:0.248385,- 1 117696083 rs57126217 AT A 30 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=2;Gene=VTCN1/NM_001253849.1/0;CC=c.161-93delA;VC=Intron;Gene=VTCN1/NM_001253850.1/0;CC=c.98-93delA;VC=Intron;Gene=VTCN1/NM_024626.3/1;CC=c.446-93delA;VC=Intron;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,G,I,A:52:18:5:14:34,1,5,12:1052,12,144,416:0.00,-0.02,10.20,29.99:0.00,-0.10,-0.49,-1.25:0.00,0.07,10.69,31.24:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.73:0.00,0.00,0.00,1.00:60,60,60,60:36.1,148.0,43.6,48.0:0,0,0,2:0,0,0,0:128,89,69,87:20,62,69,63:18,0,13,36:-,NM_024626.3(VTCN1) c.446-93delA:-,NOT_FOUND:-,NOT_FOUND 1 117696148 rs7543458 A G 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7352,G/0.2648;Gene=VTCN1/NM_001253849.1/0;CC=c.161-157T>C;VC=Intron;Gene=VTCN1/NM_001253850.1/0;CC=c.98-157T>C;VC=Intron;Gene=VTCN1/NM_024626.3/1;CC=c.446-157T>C;VC=Intron;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:0:0:0:11,17:331,507:0.00,50.64:0.00,0.00:0.00,50.64:0.00,1.00:0.00,0.00:0.00,1.00:60,60:23.5,58.5:0,0:0,0:104,108:47,40:25,25:-,NM_024626.3(VTCN1) c.446-157T>C:-,0.23:-,NOT_FOUND 1 117699634 . C . . NT END=117712728;NT GT ./. 1 117712794 . C . . NT END=117746239;NT GT ./. 1 117715987 rs71096900 A AAC 9 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3612,AAC/0.6388,AACAC/.;DB;DBA=NA;PAF=A/0.3612,AAC/0.6388,AACAC/.;NP=1;NP=32;Gene=VTCN1/NM_001253849.1/0;CC=c.-253-3195_-253-3194insGT;VC=Intron;Gene=VTCN1/NM_001253850.1/0;CC=c.33-3195_33-3194insGT;VC=Intron;Gene=VTCN1/NM_024626.3/1;CC=c.33-3195_33-3194insGT;VC=Intron;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,AAC,D:8:8:6:1:4,3,1:111,201,30:0.00,9.19,2.27:0.00,-0.56,2.31:0.00,9.75,-0.04:0.00,0.60,0.00:0.00,0.89,0.00:0.00,0.86,0.00:60,60,60:8.5,0.0,30.0:1,3,0:0,0,0:101,86,19:32,52,132:21,13,0:-,NM_024626.3(VTCN1) c.33-3195_33-3194insGT:-,NOT_FOUND:-,NOT_FOUND 1 117746211 rs10801937 C T 184 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.4974,T/0.5026;Gene=VTCN1/NM_001253849.1/0;CC=c.-254+29G>A;VC=Intron;Gene=VTCN1/NM_001253850.1/0;CC=c.32+7235G>A;VC=Intron;Gene=VTCN1/NM_024626.3/1;CC=c.32+7235G>A;VC=Intron;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:T:51:47:0:0:51:1601:184.34:149.19:35.16:1.00:1.00:1.00:60:36.8:0:0:47:103:31:NM_024626.3(VTCN1) c.32+7235G>A,NM_024626.3(VTCN1) c.32+7235G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 117746459 . g . . NT END=117753445;NT GT ./. 1 117746573 rs10923223 C T 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3177,A/.,T/0.6823;Gene=VTCN1/NM_001253850.1/0;CC=c.32+6873G>A;VC=Intron;Gene=VTCN1/NM_024626.3/1;CC=c.32+6873G>A;VC=Intron;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:405:46.22:0.00:46.22:1.00:0.00:1.00:60:46.2:0:0:83:66:27:NM_024626.3(VTCN1) c.32+6873G>A,NM_024626.3(VTCN1) c.32+6873G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 117746639 rs12076501 G A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7348,A/0.2652;Gene=VTCN1/NM_001253850.1/0;CC=c.32+6807C>T;VC=Intron;Gene=VTCN1/NM_024626.3/1;CC=c.32+6807C>T;VC=Intron;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:8:0:0:0:4,4:126,128:12.10,0.00:0.00,0.00:12.10,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:74.5,45.2:0,0:0,0:105,126:45,22:22,14:NM_024626.3(VTCN1) c.32+6807C>T,-:0.26,-:NOT_FOUND,- 1 117753478 . G . . NT END=117910805;NT GT ./. 1 117753543 rs61759536 G A 53 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.9936,A/0.00639;PC=1.000;Gene=VTCN1/NM_001253850.1/0;CC=c.-66C>T;VC=5UTR;Gene=VTCN1/NM_024626.3/1;CC=c.-66C>T;VC=5UTR;Gene=VTCN1/NR_045603.1/0;VC=NonCoding;Gene=VTCN1/NR_045604.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:22:0:0:19,27:578,855:53.33,0.00:12.64,0.00:40.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.1,9.4:0,0:0,0:80,102:70,46:23,26:NM_024626.3(VTCN1) c.-66C>T,-:0.01,-:0.014455,- 1 117910682 rs1146297 G A 93 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.2198,A/0.7802;Gene=MAN1A2/NM_006699.3/1;CC=c.-124G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:27:0:0:27:804:93.22:93.22:0.00:1.00:1.00:0.00:60:39.9:0:0:38:112:25:NM_006699.3(MAN1A2) c.-124G>A,NM_006699.3(MAN1A2) c.-124G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 117911108 . G . . NT END=117944807;NT GT ./. 1 117944663 rs1289940 G A 36 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8257,A/0.1743;PC=0.001;Gene=MAN1A2/NM_006699.3/1;CC=c.303-145G>A;VC=Intron;DM=MAN1A2/Glyco_hydro_47;DM=MAN1A2/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:314:36.17:34.28:1.89:1.00:1.00:1.00:60:63.6:0:0:35:115:17:NM_006699.3(MAN1A2) c.303-145G>A,NM_006699.3(MAN1A2) c.303-145G>A:0.15,0.15:NOT_FOUND,NOT_FOUND 1 117944732 rs1289941 C A 142 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.8259,A/0.1741;PC=0.003;Gene=MAN1A2/NM_006699.3/1;CC=c.303-76C>A;VC=Intron;DM=MAN1A2/Glyco_hydro_47;DM=MAN1A2/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:32:0:0:38:1244:142.46:105.83:36.63:1.00:1.00:1.00:60:53.0:0:0:42:98:21:NM_006699.3(MAN1A2) c.303-76C>A,NM_006699.3(MAN1A2) c.303-76C>A:0.15,0.15:NOT_FOUND,NOT_FOUND 1 117945064 . G . . NT END=117948170;NT GT ./. 1 117948268 . G . . NT END=117957334;NT GT ./. 1 117957288 rs1289948 A G 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2352,G/0.7648;Gene=MAN1A2/NM_006699.3/1;CC=c.656-47A>G;VC=Intron;DM=MAN1A2/Glyco_hydro_47;DM=MAN1A2/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:11:0:0:12:325:38.10:30.25:7.85:1.00:1.00:1.00:60:53.1:0:0:73:71:46:NM_006699.3(MAN1A2) c.656-47A>G,NM_006699.3(MAN1A2) c.656-47A>G:0.73,0.73:0.799738,0.799738 1 117957454 . G . . NT END=117963190;NT GT ./. 1 117962929 rs1289944 A T 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8145,T/0.1855;Gene=MAN1A2/NM_006699.3/1;CC=c.775-262A>T;VC=Intron;DM=MAN1A2/Glyco_hydro_47;DM=MAN1A2/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:102:12.08:12.08:0.00:1.00:1.00:0.00:60:28.0:0:0:32:118:9:NM_006699.3(MAN1A2) c.775-262A>T,NM_006699.3(MAN1A2) c.775-262A>T:0.16,0.16:NOT_FOUND,NOT_FOUND 1 117963272 . G . . NT END=117984852;NT GT ./. 1 117984948 . G . . NT END=118003110;NT GT ./. 1 118003235 . G . . NT END=118008955;NT GT ./. 1 118009050 . G . . NT END=118035768;NT GT ./. 1 118035885 . G . . NT END=118039384;NT GT ./. 1 118039605 . G . . NT END=118042003;NT GT ./. 1 118042177 . G . . NT END=118045476;NT GT ./. 1 118045593 . G . . NT END=118065446;NT GT ./. 1 118045747 rs12728046 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8524,G/0.1476;Gene=MAN1A2/NM_006699.3/1;CC=c.1793+155A>G;VC=Intron;DM=MAN1A2/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:241:27.44:0.00:27.44:1.00:0.00:1.00:60:39.4:0:0:125:25:15:NM_006699.3(MAN1A2) c.1793+155A>G,NM_006699.3(MAN1A2) c.1793+155A>G:0.13,0.13:NOT_FOUND,NOT_FOUND 1 118065580 . A . . NT END=118165490;NT GT ./. 1 118165691 rs1630312 C T 817 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=217;DB;DBA=NA;PAF=NA;PC=0.998;Gene=FAM46C/NM_017709.3/1;CC=c.201C>T;ProtCh=p.H67=;VC=Silent;DM=FAM46C/NTP_transf_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:217:148:0:0:217:7142:817.39:387.51:429.87:1.00:1.00:1.00:60:37.2:0:0:76:72:31:NM_017709.3(FAM46C) c.201C>T (p.(=)),NM_017709.3(FAM46C) c.201C>T (p.(=)):0.25,0.25:0.30632,0.30632 1 118166667 . C . . NT END=118413190;NT GT ./. 1 118166786 rs75632243 C CT 19 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.756,CT/0.244,CTTT/.;DB;DBA=NA;PAF=NA;NP=1;NP=35;PC=0.984;Gene=FAM46C/NM_017709.3/1;CC=c.*136dupT;VC=3UTR;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,CT,D:19:0:9:2:10,7,2:304,268,54:0.00,18.84,3.89:0.00,0.00,0.00:0.00,18.84,3.89:0.00,0.97,0.00:0.00,0.00,0.00:0.00,0.97,0.00:60,60,60:14.7,35.4,27.0:0,2,0:0,0,0:134,99,79:16,52,71:13,22,36:-,NM_017709.3(FAM46C) c.*136dupT:-,NOT_FOUND:-,NOT_FOUND 1 118166877 rs10923360 C T 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7153,T/0.2847;PC=0.994;Gene=FAM46C/NM_017709.3/1;CC=c.*211C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:310:35.29:0.00:35.29:1.00:0.00:1.00:60:48.9:0:0:108:43:25:NM_017709.3(FAM46C) c.*211C>T,NM_017709.3(FAM46C) c.*211C>T:0.31,0.31:NOT_FOUND,NOT_FOUND 1 118256891 rs1657824 A T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=252;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:1:4:132:15.11:5.72:9.39:1.00:1.00:1.00:60:100.5:0:0:93:51:20:chr1 g.118256890A>T (intergenic),chr1 g.118256890A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 118320644 rs1780028 A G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.1979,G/0.8021;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:29:0:0:16,13:514,348:0.00,32.20:0.00,30.52:0.00,1.69:0.00,1.00:0.00,1.00:0.00,0.75:60,56:9.4,31.5:0,0:0,0:51,31:99,120:32,15:-,chr1 g.118320643A>G (intergenic):-,0.81:-,NOT_FOUND 1 118320859 rs1775749 T A 243 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.0007987,A/0.9992;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:41:0:0:66:2113:242.66:125.49:117.16:1.00:1.00:1.00:60:36.8:0:0:70:80:39:chr1 g.118320858T>A (intergenic),chr1 g.118320858T>A (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 118321119 rs1655201 T C 74 nt VT=SNV;PN=C;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.1977,C/0.8023;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:24:0:0:24,28:778,895:73.63,0.00:22.06,0.00:51.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,6.9:0,0:0,0:93,75:47,66:32,23:chr1 g.118321118T>C (intergenic),-:0.82,-:NOT_FOUND,- 1 118413239 . C . . NT END=118419843;NT GT ./. 1 118420019 . CT C 11 idl,rn VT=DEL;SST=Single;DP=49;Gene=GDAP2/NM_017686.3/1;CC=c.1446+611delA;VC=Intron;Gene=GDAP2/NM_001135589.2/0;CC=c.*566delA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:CT,I,C:48:33:5:5:39,4,5:1267,150,157:0.00,7.82,11.31:0.00,4.80,6.66:0.00,3.03,4.65:0.00,0.00,0.73:0.00,0.00,0.91:0.00,0.00,0.84:60,60,60:17.7,27.8,12.4:0,1,0:0,0,0:62,78,27:89,72,124:34,10,22:-,NM_017686.3(GDAP2) c.1446+611delA:-,NOT_FOUND:-,NOT_FOUND 1 118420775 . C . . NT END=118424444;NT GT ./. 1 118424500 . C . . NT END=118426109;NT GT ./. 1 118426250 . C . . NT END=118429198;NT GT ./. 1 118429276 . C . . NT END=118430319;NT GT ./. 1 118430397 . C . . NT END=118439454;NT GT ./. 1 118439612 . C . . NT END=118441678;NT GT ./. 1 118441839 . C . . NT END=118449127;NT GT ./. 1 118449205 . C . . NT END=118454615;NT GT ./. 1 118454705 . C . . NT END=118455151;NT GT ./. 1 118455306 . C . . NT END=118461218;NT GT ./. 1 118461359 . C . . NT END=118462804;NT GT ./. 1 118462981 . G . . NT END=118475942;NT GT ./. 1 118475655 . TA T 9 rn VT=DEL;SST=Single;DP=6;Gene=WDR3/NM_006784.2/1;CC=c.-32-234delA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:TA,I,T:6:6:1:3:2,1,3:69,24,88:0.00,1.94,8.73:0.00,1.94,8.73:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:0.0,52.0,52.0:0,0,0:0,0,0:23,78,29:126,73,120:16,0,20:-,NM_006784.2(WDR3) c.-32-255delA:-,NOT_FOUND:-,NOT_FOUND 1 118476114 . G . . NT END=118477095;NT GT ./. 1 118477306 . G . . NT END=118479391;NT GT ./. 1 118479511 . G . . NT END=118481102;NT GT ./. 1 118481182 . G . . NT END=118482099;NT GT ./. 1 118482196 . G . . NT END=118483449;NT GT ./. 1 118483564 . G . . NT END=118483746;NT GT ./. 1 118483849 . G . . NT END=118484372;NT GT ./. 1 118484265 rs10733098 G A 105 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=2837;Gene=WDR3/NM_006784.2/1;CC=c.892-108G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:28:0:0:29:915:105.32:97.13:8.19:1.00:1.00:1.00:60:38.6:0:0:53:98:44:NM_006784.2(WDR3) c.892-108G>A,NM_006784.2(WDR3) c.892-108G>A:1,1:NOT_FOUND,NOT_FOUND 1 118484471 . G . . NT END=118485059;NT GT ./. 1 118485168 . G . . NT END=118486018;NT GT ./. 1 118486250 . G . . NT END=118488708;NT GT ./. 1 118488803 . G . . NT END=118491027;NT GT ./. 1 118491130 . G . . NT END=118492373;NT GT ./. 1 118491215 . GT G 7 rn VT=DEL;SST=Single;DP=20;Gene=WDR3/NM_006784.2/1;CC=c.1524+101delT;VC=Intron;DM=WDR3/WD40;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:GT,T,I,G:19:3:3:3:13,1,2,3:415,12,83,91:0.00,0.21,3.66,7.14:0.00,0.48,-0.05,-0.07:0.00,-0.27,3.71,7.21:0.00,0.00,0.00,0.50:0.00,0.00,0.00,0.44:0.00,0.00,0.00,0.90:60,60,60,60:24.1,12.0,16.5,3.7:0,0,1,0:0,0,0,0:108,144,86,121:42,7,65,29:24,0,10,11:-,NM_006784.2(WDR3) c.1524+87delT:-,NOT_FOUND:-,NOT_FOUND 1 118492460 . G . . NT END=118492617;NT GT ./. 1 118492754 . G . . NT END=118493456;NT GT ./. 1 118493514 . G . . NT END=118494598;NT GT ./. 1 118494700 . G . . NT END=118494919;NT GT ./. 1 118495032 . G . . NT END=118495150;NT GT ./. 1 118495286 . G . . NT END=118495568;NT GT ./. 1 118495620 . G . . NT END=118496098;NT GT ./. 1 118496165 . G . . NT END=118496629;NT GT ./. 1 118496723 . G . . NT END=118497202;NT GT ./. 1 118497251 . G . . NT END=118497937;NT GT ./. 1 118497982 . G . . NT END=118499690;NT GT ./. 1 118499820 . G . . NT END=118501532;NT GT ./. 1 118501390 . CTT C 11 rn VT=DEL;SST=Single;DP=19;PC=0.007;Gene=WDR3/NM_006784.2/1;CC=c.2583-128_2583-127delTT;VC=Intron;Gene=SPAG17/NM_206996.2/1;CC=c.*1-4720_*1-4719delAA;VC=Intron;DM=WDR3/Utp12;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:CTT,C:18:19:0:5:14,4:454,164:0.00,10.87:0.00,10.87:0.00,0.00:0.00,0.72:0.00,0.72:0.00,0.00:60,60:34.4,98.5:0,1:0,0:97,26:49,121:48,14:-,NM_006784.2(WDR3) c.2583-142_2583-141delTT:-,NOT_FOUND:-,NOT_FOUND 1 118501627 . G . . NT END=118501914;NT GT ./. 1 118502071 . A . . NT END=118506421;NT GT ./. 1 118506562 . G . . NT END=118509231;NT GT ./. 1 118509377 . C . . NT END=118512678;NT GT ./. 1 118512740 . C . . NT END=118514485;NT GT ./. 1 118514671 . C . . NT END=118516047;NT GT ./. 1 118514723 . TA T 7 idl,rn VT=DEL;SST=Single;DP=40;NP=25;PC=0.002;Gene=SPAG17/NM_206996.2/1;CC=c.6142-54delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:TA,I,T:39:16:2:4:34,2,3:1036,63,132:0.00,3.90,6.81:0.00,1.05,2.32:0.00,2.85,4.50:0.00,0.00,0.37:0.00,0.00,0.60:0.00,0.00,0.84:60,60,60:20.9,0.0,0.0:0,0,1:0,0,0:112,67,65:29,82,86:22,61,18:-,NM_206996.2(SPAG17) c.6142-54delT:-,NOT_FOUND:-,NOT_FOUND 1 118516185 . C . . NT END=118523892;NT GT ./. 1 118524025 . C . . NT END=118526433;NT GT ./. 1 118526537 . C . . NT END=118527305;NT GT ./. 1 118526592 rs4347199 G A 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.1496,A/0.8504;PC=0.002;Gene=SPAG17/NM_206996.2/1;CC=c.5770-56C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:7:0:0:26:744:86.75:14.74:72.01:1.00:1.00:1.00:60:37.5:0:0:121:28:27:NM_206996.2(SPAG17) c.5770-56C>T,NM_206996.2(SPAG17) c.5770-56C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 1 118527406 . C . . NT END=118530456;NT GT ./. 1 118530505 . C . . NT END=118530727;NT GT ./. 1 118530828 . C . . NT END=118533483;NT GT ./. 1 118533530 . C . . NT END=118534037;NT GT ./. 1 118534152 . C . . NT END=118535088;NT GT ./. 1 118535272 . C . . NT END=118537028;NT GT ./. 1 118537154 . C . . NT END=118538992;NT GT ./. 1 118539124 . C . . NT END=118539220;NT GT ./. 1 118539367 . C . . NT END=118548036;NT GT ./. 1 118548226 . C . . NT END=118550666;NT GT ./. 1 118550444 rs942902 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7141,T/0.2859;Gene=SPAG17/NM_206996.2/1;CC=c.4587+223G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:8:8:0:0:4,4:131,132:0.00,12.70:0.00,12.70:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:9.2,69.5:0,0:0,0:82,48:69,101:40,17:-,NM_206996.2(SPAG17) c.4587+223G>A:-,0.29:-,NOT_FOUND 1 118550822 . C . . NT END=118554850;NT GT ./. 1 118551871 rs71742889 AAC A 12 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AAC/0.5222,A/0.4778;DB;DBA=NA;PAF=AAC/0.5222,A/0.4778;NP=52;PC=0.017;Gene=SPAG17/NM_206996.2/1;CC=c.4433-1052_4433-1051delGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:AAC,A:8:7:0:6:3,5:100,156:0.00,12.21:0.00,7.60:0.00,4.61:0.00,0.96:0.00,0.99:0.00,0.98:60,60:9.0,31.4:0,1:0,0:108,57:42,93:18,10:-,NM_206996.2(SPAG17) c.4433-1052_4433-1051delGT:-,NOT_FOUND:-,NOT_FOUND 1 118554711 rs6428725 G T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4359,T/0.5641;Gene=SPAG17/NM_206996.2/1;CC=c.4432+140C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,T:13:13:0:0:9,4:276,118:0.00,10.23:0.00,10.23:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,60:9.9,29.5:0,0:0,0:40,101:110,49:18,13:-,NM_206996.2(SPAG17) c.4432+140C>A:-,0.54:-,NOT_FOUND 1 118554996 . C . . NT END=118558587;NT GT ./. 1 118558806 . C . . NT END=118565926;NT GT ./. 1 118565953 rs10923472 G A 62 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.7127,A/0.2873;PC=0.937;Gene=SPAG17/NM_206996.2/1;CC=c.4043C>T;ProtCh=p.P1348L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:40:0:0:20,30:675,1030:62.43,0.00:42.98,0.00:19.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,2.5:0,0:0,0:67,65:80,86:28,29:NM_206996.2(SPAG17) c.4043C>T (p.Pro1348Leu),-:0.29,-:0.365524,- 1 118566087 . C . . NT END=118567860;NT GT ./. 1 118568040 . C . . NT END=118570896;NT GT ./. 1 118571018 . C . . NT END=118574314;NT GT ./. 1 118574491 . C . . NT END=118579392;NT GT ./. 1 118579170 rs397764177 T TTGTA 13 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4417,TA/.,TGTA/.,TTGCA/0.0009984,TTGTA/0.5573;DB;DBA=NA;PAF=T/0.4417,TTGTA/0.5573;NP=164;PC=0.003;Gene=SPAG17/NM_206996.2/1;CC=c.3433+219_3433+222dupTACA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:T,TTGTA:7:7:4:0:3,4:96,129:0.00,12.73:0.00,10.91:0.00,1.82:0.00,0.90:0.00,0.90:0.00,0.71:60,70:14.3,0.0:0,0:0,0:16,64:135,86:2,23:-,NM_206996.2(SPAG17) c.3433+222_3433+223insTACA:-,NOT_FOUND:-,NOT_FOUND 1 118579507 . C . . NT END=118581914;NT GT ./. 1 118582068 . C . . NT END=118583352;NT GT ./. 1 118583408 rs10923477 G A 53 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7115,A/0.2885;PC=0.990;Gene=SPAG17/NM_206996.2/1;CC=c.3111C>T;ProtCh=p.Y1037=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:33:20:0:0:17,1,15:544,12,460:52.89,0.17,0.00:21.93,0.26,0.00:30.95,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,93.0,3.5:0,0,0:0,0,0:63,117,67:74,33,82:19,0,26:NM_206996.2(SPAG17) c.3111C>T (p.(=)),-:0.29,-:0.370368,- 1 118583465 . C . . NT END=118584425;NT GT ./. 1 118584666 . C . . NT END=118596624;NT GT ./. 1 118596717 . C . . NT END=118598355;NT GT ./. 1 118598538 . C . . NT END=118609367;NT GT ./. 1 118609523 . C . . NT END=118616476;NT GT ./. 1 118616591 . C . . NT END=118617161;NT GT ./. 1 118617224 . C . . NT END=118623723;NT GT ./. 1 118617274 rs1935993 C T 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.5717,T/0.4283;PC=0.183;Gene=SPAG17/NM_206996.2/1;CC=c.2210-51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:28:0:0:27,27:854,908:0.00,87.41:0.00,34.32:0.00,53.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,38.0:0,0:0,0:82,108:67,38:31,17:-,NM_206996.2(SPAG17) c.2210-51G>A:-,0.42:-,0.536527 1 118623681 rs72288918 TACACAC T 39 idl,nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=TACACAC/0.6028,T/0.3966;DB;DBA=NA;PAF=TACACAC/0.6028,T/0.3966;DB;DBA=NA;PAF=TACACAC/0.6028,T/0.3966;NP=375;PC=0.001;Gene=SPAG17/NM_206996.2/1;CC=c.2209+37_2209+42delGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TACACAC,I,T:25:27:1:18:11,1,13:319,34,495:0.00,2.26,38.68:0.00,2.28,28.67:0.00,-0.02,10.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:11.5,0.0,11.5:0,0,3:0,0,0:33,97,44:103,54,101:26,0,18:-,NM_206996.2(SPAG17) c.2209+37_2209+42delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 118623943 . C . . NT END=118624037;NT GT ./. 1 118624266 . C . . NT END=118628544;NT GT ./. 1 118628696 . C . . NT END=118629293;NT GT ./. 1 118629125 rs2798150 T C 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.01378,C/0.9862;Gene=SPAG17/NM_206996.2/1;CC=c.1611+169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:304:35.15:35.15:0.00:1.00:1.00:0.00:60:32.7:0:0:41:109:25:NM_206996.2(SPAG17) c.1611+169A>G,NM_206996.2(SPAG17) c.1611+169A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 118629408 . C . . NT END=118629493;NT GT ./. 1 118629632 . C . . NT END=118634228;NT GT ./. 1 118634342 . C . . NT END=118634552;NT GT ./. 1 118634626 . C . . NT END=118635778;NT GT ./. 1 118635941 . C . . NT END=118640292;NT GT ./. 1 118640475 . C . . NT END=118642228;NT GT ./. 1 118642424 . C . . NT END=118644362;NT GT ./. 1 118644430 rs10754367 A G 101 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.4361,G/0.5639,T/.;Gene=SPAG17/NM_206996.2/1;CC=c.567T>C;ProtCh=p.N189=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:93:66:0:0:57,34,2:1805,1111,23:0.00,101.22,-0.01:0.00,51.79,0.27:0.00,49.43,-0.28:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.2,42.6,102.5:0,0,0:0,0,0:80,45,83:69,105,68:36,25,41:-,NM_206996.2(SPAG17) c.567T>C (p.(=)):-,0.53:-,0.604875 1 118644550 . C . . NT END=118657932;NT GT ./. 1 118658065 . C . . NT END=118693165;NT GT ./. 1 118693253 . C . . NT END=118693851;NT GT ./. 1 118693993 . C . . NT END=118727693;NT GT ./. 1 118727781 . G . . NT END=119427354;NT GT ./. 1 118744408 rs146751982 G GGTGTGT 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=65;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GGTGTGT:4:3:4:0:1,3:36,131:0.00,10.17:0.00,-0.45:0.00,10.61:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,0.0:0,1:0,0:107,15:30,127:0,2:-,chr1 g.118744408_118744409insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 118760536 rs56897622 CTGTG C 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;PC=0.004;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:CTGTG,C:4:2:0:3:2,2:69,66:0.00,6.35:0.00,1.34:0.00,5.01:0.00,0.51:0.00,0.79:0.00,0.89:60,60:0.0,42.5:0,0:0,0:95,34:55,116:35,13:-,chr1 g.118760537_118760540delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 118861380 rs57350725 A AGT 13 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.999,T/0.0009984;DB;DBA=NA;PAF=NA;NP=1;NP=149;NP=2;NP=5;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,AGT:8:8:4:0:4,4:134,135:0.00,13.00:0.00,6.20:0.00,6.80:0.00,0.87:0.00,0.87:0.00,0.73:60,60:0.0,10.0:0,0:0,0:93,78:16,70:42,13:-,chr1 g.118861380_118861381insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 119157211 rs1742854 G T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6078,T/0.3922;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:206:23.46:17.50:5.97:1.00:1.00:1.00:60:37.7:0:0:41:109:23:chr1 g.119157210G>T (intergenic),chr1 g.119157210G>T (intergenic):0.39,0.39:NOT_FOUND,NOT_FOUND 1 119157490 rs1742856 A G 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.375,G/0.625;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:G:15:13:0:0:15:371:44.02:35.02:8.99:1.00:1.00:1.00:60:41.5:0:0:71:80:53:chr1 g.119157489A>G (intergenic),chr1 g.119157489A>G (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 1 119158186 rs1701978 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6086,T/0.3914;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:133:15.21:7.70:7.50:1.00:1.00:1.00:60:44.5:0:0:101:49:7:chr1 g.119158185C>T (intergenic),chr1 g.119158185C>T (intergenic):0.39,0.39:NOT_FOUND,NOT_FOUND 1 119427228 rs78460482 G GA 25 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=1;Gene=TBX15/NM_152380.2/1;CC=c.*126_*127insT;VC=3UTR;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,GA,D:32:41:13:12:16,9,7:509,414,391:0.00,25.35,19.47:0.00,25.35,19.47:0.00,0.00,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.00,0.00:60,60,60:31.8,58.6,30.9:1,4,5:0,0,0:71,25,37:77,126,113:49,13,21:-,NM_152380.2(TBX15) c.*126dupT:-,NOT_FOUND:-,NOT_FOUND 1 119428140 . C . . NT END=119433489;NT GT ./. 1 119433589 . C . . NT END=119441650;NT GT ./. 1 119441749 . C . . NT END=119456737;NT GT ./. 1 119456589 rs11586475 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9698,T/0.03015;Gene=TBX15/NM_152380.2/1;CC=c.608+149G>A;VC=Intron;DM=TBX15/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,T:10:10:0:0:3,7:87,226:0.00,23.29:0.00,23.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.0,32.3:0,0:0,0:36,51:114,100:7,49:-,NM_152380.2(TBX15) c.608+149G>A:-,0.03:-,NOT_FOUND 1 119456803 . C . . NT END=119466058;NT GT ./. 1 119466227 . C . . NT END=119467268;NT GT ./. 1 119466275 rs4659129 A G 224 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.3584,G/0.6416;Gene=TBX15/NM_152380.2/1;CC=c.376-49T>C;VC=Intron;DM=TBX15/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:G:62:19:0:0:62:1946:224.04:47.42:176.62:1.00:1.00:1.00:60:44.3:0:0:109:34:27:NM_152380.2(TBX15) c.376-49T>C,NM_152380.2(TBX15) c.376-49T>C:0.66,0.66:0.651007,0.651007 1 119466374 rs1766793 G T 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3257,T/0.6743;Gene=TBX15/NM_152380.2/1;CC=c.376-148C>A;VC=Intron;DM=TBX15/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:0:0:0:23:623:73.08:0.00:73.08:1.00:0.00:1.00:60:60.9:0:0:96:53:24:NM_152380.2(TBX15) c.376-148C>A,NM_152380.2(TBX15) c.376-148C>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 119466439 rs1766794 A G 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.223,G/0.777;Gene=TBX15/NM_152380.2/1;CC=c.376-213T>C;VC=Intron;DM=TBX15/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:G,T:12:0:0:0:11,1:322,10:36.99,0.50:0.00,0.00:36.99,0.50:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.7,135.0:0,0:0,0:66,40:83,110:37,0:NM_152380.2(TBX15) c.376-213T>C,NM_152380.2(TBX15) c.376-213T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 119467127 rs1779437 C T 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.3297,T/0.6703;Gene=TBX15/NM_152380.2/1;CC=c.375+142G>A;VC=Intron;DM=TBX15/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:24:0:0:24:691:80.37:80.37:0.00:1.00:1.00:0.00:60:36.4:0:0:46:103:31:NM_152380.2(TBX15) c.375+142G>A,NM_152380.2(TBX15) c.375+142G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 119467441 . C . . NT END=119469132;NT GT ./. 1 119469235 . C . . NT END=119474241;NT GT ./. 1 119474456 . C . . NT END=119530213;NT GT ./. 1 119530419 . T . . NT END=119575533;NT GT ./. 1 119576012 . C . . NT END=119576717;NT GT ./. 1 119576837 . C . . NT END=119584886;NT GT ./. 1 119584973 . C . . NT END=119588204;NT GT ./. 1 119588286 . C . . NT END=119618972;NT GT ./. 1 119619231 . C . . NT END=119624962;NT GT ./. 1 119625165 . g . . NT END=119683177;NT GT ./. 1 119683268 . C . . NT END=119923315;NT GT ./. 1 119846011 rs6656857 G C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1839,C/0.8161 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:152:17.57:7.83:9.74:1.00:1.00:1.00:60:37.0:0:0:82:69:54:chr1 g.119846010G>C (intergenic),chr1 g.119846010G>C (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 1 119923347 . G . . NT END=119923700;NT GT ./. 1 119923531 rs2224995 A C 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3315,C/0.6685;Gene=HAO2/NM_001005783.2/1;CC=c.32-170A>C;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.-8-170A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:25:15:0:0:13,12:341,370:0.00,35.22:0.00,23.54:0.00,11.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,49.8:0,0:0,0:57,59:93,91:30,32:-,NM_001005783.1(HAO2) c.-8-170A>C:-,0.67:-,NOT_FOUND 1 119923724 rs2275607 T C 117 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=0.896;Gene=HAO2/NM_001005783.2/1;CC=c.55T>C;ProtCh=p.L19=;VC=Silent;Gene=HAO2/NM_016527.3/0;CC=c.16T>C;ProtCh=p.L6=;VC=Silent;DM=HAO2/FMN_dh;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:91:70:0:0:38,53:1262,1672:117.48,0.00:61.82,0.00:55.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,6.9:0,0:0,0:79,72:68,76:37,30:NM_001005783.1(HAO2) c.16T>C (p.(=)),-:0.41,-:0.404659,- 1 119923840 . G . . NT END=119925537;NT GT ./. 1 119925403 rs1341007 C T 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.6444,T/0.3556;Gene=HAO2/NM_001005783.2/1;CC=c.171-135C>T;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.132-135C>T;VC=Intron;DM=HAO2/FMN_dh;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:8,14:272,420:0.00,42.36:0.00,38.68:0.00,3.68:0.00,1.00:0.00,1.00:0.00,0.89:60,60:14.4,62.6:0,0:0,0:76,52:75,98:19,36:-,NM_001005783.1(HAO2) c.132-135C>T:-,0.4:-,NOT_FOUND 1 119925464 rs2298027 G A 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.644,A/0.356;Gene=HAO2/NM_001005783.2/1;CC=c.171-74G>A;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.132-74G>A;VC=Intron;DM=HAO2/FMN_dh;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:36:0:0:20,20:612,573:58.70,0.00:39.28,0.00:19.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.6,5.2:0,0:0,0:43,32:107,113:17,19:NM_001005783.1(HAO2) c.132-74G>A,-:0.4,-:NOT_FOUND,- 1 119925690 . G . . NT END=119927398;NT GT ./. 1 119925936 rs2298028 T C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3315,C/0.6685;Gene=HAO2/NM_001005783.2/1;CC=c.322+247T>C;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.283+247T>C;VC=Intron;DM=HAO2/FMN_dh;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:193:22.16:0.00:22.16:1.00:0.00:1.00:60:68.3:0:0:64:86:14:NM_001005783.1(HAO2) c.283+247T>C,NM_001005783.1(HAO2) c.283+247T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 1 119927677 . G . . NT END=119927767;NT GT ./. 1 119927680 rs6667679 A G 161 nt VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.3325,G/0.6675;PC=0.678;Gene=HAO2/NM_001005783.2/1;CC=c.600+4A>G;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.561+4A>G;VC=Intron;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:105:62:0:0:54,51:1819,1681:0.00,160.83:0.00,86.85:0.00,73.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,46.0:0,0:0,0:71,78:71,71:33,37:-,NM_001005783.1(HAO2) c.561+4A>G:-,0.67:-,0.645856 1 119927969 rs6670497 T G 118 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.5559,G/0.4441;Gene=HAO2/NM_001005783.2/1;CC=c.600+293T>G;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.561+293T>G;VC=Intron;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:78:36:0:0:37,41:1235,1251:117.73,0.00:29.72,0.00:88.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,5.0:0,1:0,0:99,98:42,48:30,32:NM_001005783.1(HAO2) c.561+293T>G,-:0.47,-:NOT_FOUND,- 1 119928193 rs3207643 T G 92 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.8261,G/0.1739;Gene=HAO2/NM_001005783.2/1;CC=c.600+517T>G;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.561+517T>G;VC=Intron;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:64:55:0:0:31,33:961,1032:91.50,0.00:65.35,0.00:26.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,5.2:0,0:0,0:56,35:94,108:30,26:NM_001005783.1(HAO2) c.561+517T>G,-:0.21,-:NOT_FOUND,- 1 119928383 rs1417604 A G 117 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.3319,G/0.6681;Gene=HAO2/NM_001005783.2/1;CC=c.600+707A>G;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.561+707A>G;VC=Intron;DM=HAO2/FMN_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:61:0:0:56,37:1785,1264:0.00,116.89:0.00,49.99:0.00,66.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,38.4:0,0:0,0:76,88:73,63:30,33:-,NM_001005783.1(HAO2) c.561+707A>G:-,0.67:-,NOT_FOUND 1 119928657 . c . . NT END=119929244;NT GT ./. 1 119929455 . G . . NT END=119934732;NT GT ./. 1 119934892 . G . . NT END=119935240;NT GT ./. 1 119935311 . G . . NT END=119936407;NT GT ./. 1 119936263 rs3765949 G A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5911,A/0.4089;Gene=HAO2/NM_001005783.2/1;CC=c.1040-145G>A;VC=Intron;Gene=HAO2/NM_016527.3/0;CC=c.1001-145G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:7,10:216,284:19.94,0.00:19.94,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:58.4,9.0:0,0:0,0:24,38:113,112:20,24:NM_001005783.1(HAO2) c.1001-145G>A,-:0.44,-:NOT_FOUND,- 1 119936702 . A . . NT END=119958042;NT GT ./. 1 119958185 . G . . NT END=119962040;NT GT ./. 1 119962206 . G . . NT END=119964431;NT GT ./. 1 119965244 . T . . NT END=120050099;NT GT ./. 1 119988071 rs10802094 C T 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.637,T/0.363;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:14:0:0:13,13:412,406:0.00,38.99:0.00,16.71:0.00,22.28:0.00,1.00:0.00,0.99:0.00,1.00:60,60:11.1,33.4:0,0:0,0:76,94:74,57:39,50:-,chr1 g.119988070C>T (intergenic):-,0.41:-,NOT_FOUND 1 119988404 rs10923823 C T 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.637,T/0.363;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:2:0:0:9,11:300,367:0.00,35.97:0.00,1.64:0.00,34.34:0.00,1.00:0.00,0.83:0.00,1.00:60,60:2.2,33.4:0,0:0,0:117,71:34,80:13,33:-,chr1 g.119988403C>T (intergenic):-,0.41:-,NOT_FOUND 1 120050245 . G . . NT END=120054125;NT GT ./. 1 120050463 rs2236780 A G 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.281,G/0.719;PC=0.006;Gene=HSD3B1/NM_000862.2/1;CC=c.145+219A>G;VC=Intron;DM=HSD3B1/3Beta_HSD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:194:22.26:0.00:22.26:1.00:0.00:1.00:60:32.3:0:0:119:32:25:NM_000862.2(HSD3B1) c.145+219A>G,NM_000862.2(HSD3B1) c.145+219A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 120054291 . G . . NT END=120056456;NT GT ./. 1 120057158 rs6203 C T 283 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=176;DB;DBA=NA;PAF=C/0.6332,T/0.3668;PC=0.939;Gene=HSD3B1/NM_000862.2/1;CC=c.1012C>T;ProtCh=p.L338=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:176:131:0:0:84,92:2746,2923:0.00,283.25:0.00,159.18:0.00,124.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,55.4:0,0:0,0:45,58:101,89:27,28:-,NM_000862.2(HSD3B1) c.1012C>T (p.(=)):-,0.4:-,0.321928 1 120057246 rs1047303 C A 237 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=C/0.1665,A/0.8335;Gene=HSD3B1/NM_000862.2/1;CC=c.1100C>A;ProtCh=p.T367N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:154:93:0:0:80,73,1:2453,2322,10:237.42,0.00,-0.13:81.47,0.00,-0.03:155.95,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,50:59.3,7.0,91.0:0,0,0:0,0,0:106,104,123:43,44,27:23,21,0:NM_000862.2(HSD3B1) c.1100C>A (p.Thr367Asn),-:0.8,-:0.749154,- 1 120057269 . T . . NT END=120165327;NT GT ./. 1 120088317 rs2885613 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3299,C/0.6701;PC=0.961 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:7:2:0:0:3,4:98,138:9.16,0.00:1.68,0.00:7.47,0.00:0.69,0.00:0.73,0.00:0.69,0.00:60,60:66.3,14.2:0,0:0,0:126,71:10,79:14,39:chr1 g.120088316T>C (intergenic),-:0.67,-:NOT_FOUND,- 1 120088430 rs6663497 C T 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3297,T/0.6703;PC=0.977 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:1:0:0:2,2:71,66:0.00,6.35:0.00,-0.15:0.00,6.50:0.00,0.51:0.00,0.67:0.00,0.51:60,60:17.5,100.5:0,0:0,0:77,105:71,45:44,33:-,chr1 g.120088429C>T (intergenic):-,0.67:-,NOT_FOUND 1 120110768 rs12746459 C T 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4968,T/0.5032;Gene=HSD3BP4/NR_033781.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:0:0:0:3,2:96,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:60,40:20.3,204.0:0,0:0,0:144,40:7,91:5,0:-,NR_033781.1(HSD3BP4) n.4266C>T:-,0.48:-,NOT_FOUND 1 120110774 rs12727832 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.502,G/0.498;Gene=HSD3BP4/NR_033781.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G:4:0:0:0:2,2:58,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,40:4.0,204.0:0,0:0,0:139,46:11,85:10,0:-,NR_033781.1(HSD3BP4) n.4272A>G:-,0.48:-,NOT_FOUND 1 120110781 rs71519738 G T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.497,T/0.503;Gene=HSD3BP4/NR_033781.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,G,T:4:0:0:0:1,1,2:14,33,70:1.15,0.00,7.05:0.00,0.00,0.00:1.15,0.00,7.05:0.00,0.00,0.51:0.00,0.00,0.00:0.00,0.00,0.51:59,58,40:51.0,0.0,204.0:0,0,0:0,0,0:1,136,53:149,15,78:0,0,0:-,NR_033781.1(HSD3BP4) n.4279G>T:-,NOT_FOUND:-,NOT_FOUND 1 120110783 rs71519739 A G 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.497,G/0.503;Gene=HSD3BP4/NR_033781.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,G:4:0:0:0:2,2:40,72:0.00,6.96:0.00,0.00:0.00,6.96:0.00,0.51:0.00,0.00:0.00,0.51:59,40:25.5,204.0:0,0:0,0:70,55:80,76:67,0:-,NR_033781.1(HSD3BP4) n.4281A>G:-,NOT_FOUND:-,NOT_FOUND 1 120114879 rs3862258 T C 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.256,C/0.744;Gene=HSD3BP4/NR_033781.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:7:0:0:0:2,5:72,163:6.34,0.00:0.00,0.00:6.34,0.00:0.39,0.00:0.00,0.00:0.39,0.00:60,60:36.0,2.0:0,0:0,0:32,137:119,14:21,4:NR_033781.1(HSD3BP4) n.8377T>C,-:0.71,-:NOT_FOUND,- 1 120144023 rs7519907 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.5276,T/0.4724;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:9:0:0:13,7:376,227:0.00,20.45:0.00,11.83:0.00,8.62:0.00,0.97:0.00,0.96:0.00,0.99:60,60:7.6,49.9:0,0:0,0:101,69:44,81:38,15:-,NR_036540.1(LINC00622) n.-2109G>A:-,0.46:-,NOT_FOUND 1 120150949 rs10923875 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.597,C/0.403 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:8:7:0:0:5,3:161,104:16.19,0.00:12.81,0.00:3.37,0.00:0.97,0.00:1.00,0.00:0.75,0.00:60,60:32.2,6.0:0,0:0,0:114,19:33,132:30,14:chr1 g.120150948T>C (intergenic),-:0.41,-:NOT_FOUND,- 1 120164966 rs7552885 C T 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2829,T/0.7171;Gene=ZNF697/NM_001080470.1/1;CC=c.*362G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:216:24.94:24.94:0.00:1.00:1.00:0.00:60:52.0:0:0:49:102:12:NM_001080470.1(ZNF697) c.*362G>A,NM_001080470.1(ZNF697) c.*362G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 120165030 rs113983233 T TTCCTCAAGG 44 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2883,TTCCTCAAGG/0.7117;Gene=ZNF697/NM_001080470.1/1;CC=c.*297_*298insCCTTGAGGA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:T,TTCCTCAAGG:18:18:14:0:4,14:102,415:0.00,44.07:0.00,44.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:49.2,69.5:1,0:0,0:122,53:8,97:9,22:-,NM_001080470.1(ZNF697) c.*297_*298insCCTTGAGGA:-,0.69:-,NOT_FOUND 1 120165040 rs7522088 T C 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=207;Gene=ZNF697/NM_001080470.1/1;CC=c.*288A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:564:64.94:64.94:0.00:1.00:1.00:0.00:70:71.6:0:0:58:91:18:NM_001080470.1(ZNF697) c.*288A>G,NM_001080470.1(ZNF697) c.*288A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 120165125 rs3795661 G A 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.637,A/0.363;Gene=ZNF697/NM_001080470.1/1;CC=c.*203C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:42:0:0:23,19:751,554:73.52,0.00:73.52,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:104.5,75.7:0,0:0,0:50,30:99,121:38,13:NM_001080470.1(ZNF697) c.*203C>T,-:0.37,-:NOT_FOUND,- 1 120165135 rs3795662 G T 152 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.2843,T/0.7157;PC=0.003;Gene=ZNF697/NM_001080470.1/1;CC=c.*193C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:43:0:0:43:1313:151.61:151.61:0.00:1.00:1.00:0.00:60:90.3:0:0:41:110:24:NM_001080470.1(ZNF697) c.*193C>A,NM_001080470.1(ZNF697) c.*193C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 120165187 rs3795663 G A 361 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.2843,A/0.7157;Gene=ZNF697/NM_001080470.1/1;CC=c.*141C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:99:96:0:0:98,1:3161,11:360.95,0.00:321.04,0.00:39.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.0,152.0:0,0:0,0:33,77:116,60:23,0:NM_001080470.1(ZNF697) c.*141C>T,NM_001080470.1(ZNF697) c.*141C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 120165826 rs12076924 C T 970 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=271;DB;DBA=NA;PAF=C/0.2841,G/.,T/0.7159;PC=0.003;Gene=ZNF697/NM_001080470.1/1;CC=c.1140G>A;ProtCh=p.P380=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:271:175:0:0:1,3,267:5,37,8456:0.00,0.63,969.84:0.00,0.00,419.57:0.00,0.63,550.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:219.0,103.0,44.6:0,0,0:0,0,0:85,36,59:65,93,89:0,15,32:NM_001080470.1(ZNF697) c.1140G>A (p.(=)),NM_001080470.1(ZNF697) c.1140G>A (p.(=)):0.7,0.7:0.677006,0.677006 1 120166681 rs12067843 G A 577 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=G/0.3277,A/0.6723,C/.;PC=0.001;Gene=ZNF697/NM_001080470.1/1;CC=c.285C>T;ProtCh=p.S95=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:159:78:0:0:157,2:5068,43:577.25,0.00:203.53,0.00:373.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,26.5:0,0:0,0:93,107:56,39:31,22:NM_001080470.1(ZNF697) c.285C>T (p.(=)),NM_001080470.1(ZNF697) c.285C>T (p.(=)):0.65,0.65:0.577992,0.577992 1 120166740 . C . . NT END=120168497;NT GT ./. 1 120166934 rs12064265 T C 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2746,C/0.7254;Gene=ZNF697/NM_001080470.1/1;CC=c.227-195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:451:52.18:0.00:52.18:1.00:0.00:1.00:60:54.8:0:0:105:46:37:NM_001080470.1(ZNF697) c.227-195A>G,NM_001080470.1(ZNF697) c.227-195A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 120166988 rs57826447 TA T 25 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TA/0.2776,T/0.7224;Gene=ZNF697/NM_001080470.1/1;CC=c.227-250delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:TA,T:9:0:0:8:1,8:12,223:0.00,24.80:0.00,0.00:0.00,24.80:0.00,1.00:0.00,0.00:0.00,1.00:60,60:171.0,42.2:0,8:0,0:144,93:1,58:0,24:NM_001080470.1(ZNF697) c.227-250delT,NM_001080470.1(ZNF697) c.227-250delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 120166992 rs58458537 T TA 26 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2776,TA/0.7224;Gene=ZNF697/NM_001080470.1/1;CC=c.227-254_227-253insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:TA:8:0:8:0:8:220:25.80:0.00:25.80:1.00:0.00:1.00:60:42.2:8:0:96:55:24:NM_001080470.1(ZNF697) c.227-254_227-253insT,NM_001080470.1(ZNF697) c.227-254_227-253insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 120167000 rs61212565 AGGCAC A 26 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AGGCAC/0.2772,A/0.7228;NP=5;Gene=ZNF697/NM_001080470.1/1;CC=c.227-266_227-262delGTGCC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:8:8:220:25.80:0.00:25.80:1.00:0.00:1.00:60:42.2:0:0:105:46:24:NM_001080470.1(ZNF697) c.227-266_227-262delGTGCC,NM_001080470.1(ZNF697) c.227-266_227-262delGTGCC:0.71,0.71:NOT_FOUND,NOT_FOUND 1 120168353 rs4659221 G A 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.2815,A/0.7185;PC=0.003;Gene=ZNF697/NM_001080470.1/1;CC=c.226+145C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:22:0:0:22:680:78.46:78.46:0.00:1.00:1.00:0.00:60:41.8:0:0:56:92:27:NM_001080470.1(ZNF697) c.226+145C>T,NM_001080470.1(ZNF697) c.226+145C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 120168761 . C . . NT END=120254645;NT GT ./. 1 120176017 rs200594241 A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=43;Gene=ZNF697/NM_001080470.1/1;CC=c.-37-7257T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:4:0:0:3,2:88,70:0.00,6.49:0.00,3.14:0.00,3.36:0.00,0.46:0.00,0.87:0.00,0.80:60,70:103.0,35.0:1,2:0,0:53,97:86,51:9,7:-,NM_001080470.1(ZNF697) c.-37-7257T>C:-,NOT_FOUND:-,NOT_FOUND 1 120176018 . T G,TAG 11 nt VT=INS;SST=Single;DP=5;NP=1;NP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:51:G,TAG:5:4:3:0:2,3:53,102:5.46,10.96:5.46,3.65:0.00,7.31:0.00,0.78:0.00,0.97:0.00,0.94:60,70:132.5,37.0:0,0:0,0:49,68:79,83:4,2:NM_001080470.1(ZNF697) c.-37-7258A>C,NM_001080470.1(ZNF697) c.-37-7259_-37-7258insCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 120254506 rs561931 A G 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.3017,G/0.6983,T/.;Gene=PHGDH/NM_006623.3/1;CC=c.-140A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:27:0:0:14,14:454,399:0.00,38.10:0.00,36.77:0.00,1.34:0.00,1.00:0.00,1.00:0.00,0.89:60,60:6.9,69.6:0,0:0,0:48,42:103,108:16,9:-,NM_006623.3(PHGDH) c.-140A>G:-,0.69:-,NOT_FOUND 1 120254545 rs562038 G C 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.1825,C/0.8175;Gene=PHGDH/NM_006623.3/1;CC=c.-101G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:38:0:0:20,19:671,606:64.94,0.00:55.36,0.00:9.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.1,5.9:0,0:0,0:75,72:75,79:20,30:NM_006623.3(PHGDH) c.-101G>C,-:0.8,-:NOT_FOUND,- 1 120254784 . G . . NT END=120263792;NT GT ./. 1 120263643 rs550174 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6839,C/0.3161;Gene=PHGDH/NM_006623.3/1;CC=c.139-150T>C;VC=Intron;DM=PHGDH/2-Hacid_dh;DM=PHGDH/2-Hacid_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:10,8:278,227:27.16,0.00:27.16,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:31.0,10.8:0,0:0,0:68,39:82,111:31,28:NM_006623.3(PHGDH) c.139-150T>C,-:0.32,-:NOT_FOUND,- 1 120263945 . G . . NT END=120265998;NT GT ./. 1 120266065 . G . . NT END=120269473;NT GT ./. 1 120269529 . G . . NT END=120269626;NT GT ./. 1 120269726 . G . . NT END=120277256;NT GT ./. 1 120277390 . G . . NT END=120277917;NT GT ./. 1 120278067 . G . . NT END=120279736;NT GT ./. 1 120278072 rs146953046 T G 101 nt VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.995,G/0.004992;NP=100;PC=0.982;Gene=PHGDH/NM_006623.3/1;CC=c.792+6T>G;VC=Intron;DM=PHGDH/2-Hacid_dh;DM=PHGDH/2-Hacid_dh;DM=PHGDH/2-Hacid_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:88:42:0:0:1,34,53:11,1096,1695:-0.12,100.54,0.00:-0.08,33.52,0.00:-0.04,67.03,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:121.0,39.6,8.2:0,0,0:0,0,0:91,92,91:55,50,38:0,27,33:NM_006623.3(PHGDH) c.792+6T>G,-:0.01,-:0.012302,- 1 120279890 . G . . NT END=120283008;NT GT ./. 1 120283142 . G . . NT END=120284389;NT GT ./. 1 120283249 rs610404 A G 125 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.2728,G/0.7272;Gene=PHGDH/NM_006623.3/1;CC=c.1078+108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:3:0:0:35:1089:125.50:7.70:117.79:1.00:1.00:1.00:60:45.5:0:0:91:60:32:NM_006623.3(PHGDH) c.1078+108A>G,NM_006623.3(PHGDH) c.1078+108A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 120284521 . G . . NT END=120285429;NT GT ./. 1 120284669 rs627070 A T 92 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.2738,T/0.7262;Gene=PHGDH/NM_006623.3/1;CC=c.1209+149A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:0:0:0:24:810:92.45:0.00:92.45:1.00:0.00:1.00:60:41.5:0:0:94:57:32:NM_006623.3(PHGDH) c.1209+149A>T,NM_006623.3(PHGDH) c.1209+149A>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 120285546 rs543703 G A 363 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.2778,A/0.7222;Gene=PHGDH/NM_006623.3/1;CC=c.1326G>A;ProtCh=p.T442=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:101:70:0:0:100,1:3161,10:363.21,0.10:170.64,0.00:192.56,0.10:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,94.0:0,0:0,0:80,40:65,111:40,0:NM_006623.3(PHGDH) c.1326G>A (p.(=)),NM_006623.3(PHGDH) c.1326G>A (p.(=)):0.7,0.7:0.706059,0.706059 1 120285668 . G . . NT END=120286508;NT GT ./. 1 120286457 rs2236399 G T 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.9143,T/0.08566;Gene=PHGDH/NM_006623.3/1;CC=c.1448-52G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:31:26:0:0:20,11:660,363:0.00,32.79:0.00,20.92:0.00,11.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,38.1:0,0:0,0:28,68:121,83:20,43:-,NM_006623.3(PHGDH) c.1448-52G>T:-,0.07:-,0.080223 1 120286664 . C . . NT END=120293424;NT GT ./. 1 120286941 rs2236400 G A 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,G:5:0:0:0:3,2:94,54:9.37,0.00:0.00,0.00:9.37,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:63.7,80.0:0,0:0,0:97,137:53,11:51,0:chr1 g.120286940G>A (intergenic),-:0.07,-:NOT_FOUND,- 1 120286950 rs11487674 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9141,C/0.08586 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:0:0:0:3,1:68,32:7.20,0.00:0.00,0.00:7.20,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:90.0,49.0:0,0:0,0:106,146:44,5:41,0:chr1 g.120286949T>C (intergenic),-:0.07,-:NOT_FOUND,- 1 120293367 rs667246 T C 96 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3113,C/0.6887;PC=0.004;Gene=HMGCS2/NM_001166107.1/0;CC=c.*5+53A>G;VC=Intron;Gene=HMGCS2/NM_005518.3/1;CC=c.*5+53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:26:0:0:26:832:95.59:82.17:13.42:1.00:1.00:1.00:60:34.0:0:0:50:100:32:NM_001166107.1(HMGCS2) c.*5+53A>G,NM_001166107.1(HMGCS2) c.*5+53A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 120293532 . C . . NT END=120295171;NT GT ./. 1 120293748 rs566864 T G 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2746,G/0.7254;Gene=HMGCS2/NM_001166107.1/0;CC=c.1295-217A>C;VC=Intron;Gene=HMGCS2/NM_005518.3/1;CC=c.1421-217A>C;VC=Intron;DM=HMGCS2/HMG_CoA_synt_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:249:28.24:0.00:28.24:1.00:0.00:1.00:60:35.6:0:0:109:40:37:NM_001166107.1(HMGCS2) c.1295-217A>C,NM_001166107.1(HMGCS2) c.1295-217A>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 120295298 . C . . NT END=120295902;NT GT ./. 1 120296010 . C . . NT END=120298049;NT GT ./. 1 120296033 rs71074435 AAC A 21 rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=AAC/0.6735,A/0.3265;NP=147;PC=0.193;Gene=HMGCS2/NM_001166107.1/0;CC=c.1062-26_1062-25delGT;VC=Intron;Gene=HMGCS2/NM_005518.3/1;CC=c.1188-26_1188-25delGT;VC=Intron;DM=HMGCS2/HMG_CoA_synt_C;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,T,A:42:22:0:9:31,2,9:942,14,258:0.00,-0.29,20.88:0.00,-0.27,8.12:0.00,-0.03,12.76:0.00,0.00,0.99:0.00,0.00,0.98:0.00,0.00,1.00:60,60,70:14.9,103.5,3.2:0,0,0:0,0,0:107,80,97:39,70,54:21,32,10:-,NM_001166107.1(HMGCS2) c.1062-26_1062-25delGT:-,NOT_FOUND:-,NOT_FOUND 1 120298221 . C . . NT END=120299895;NT GT ./. 1 120300062 . C . . NT END=120301740;NT GT ./. 1 120301906 . C . . NT END=120302486;NT GT ./. 1 120302613 . C . . NT END=120306794;NT GT ./. 1 120307250 . C . . NT END=120311363;NT GT ./. 1 120311468 . C . . NT END=120337240;NT GT ./. 1 120337309 . C . . NT END=120341119;NT GT ./. 1 120337384 rs947270 T C 103 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5413,C/0.4587;Gene=REG4/NM_001159352.1/1;CC=c.410-76A>G;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.410-76A>G;VC=Intron;DM=REG4/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:6:0:0:27:904:103.27:13.57:89.70:1.00:1.00:1.00:60:57.7:0:0:108:42:38:NM_001159352.1(REG4) c.410-76A>G,NM_001159352.1(REG4) c.410-76A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 120337403 rs947271 A G 62 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.5409,G/0.4591;Gene=REG4/NM_001159352.1/1;CC=c.410-95T>C;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.410-95T>C;VC=Intron;DM=REG4/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A,G:18:3:0:0:1,17:9,553:0.00,61.96:0.00,5.83:0.00,56.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:88.0,69.1:0,0:0,0:24,88:126,63:0,18:NM_001159352.1(REG4) c.410-95T>C,NM_001159352.1(REG4) c.410-95T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 120340918 rs1163541 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2242,A/0.7758;Gene=REG4/NM_001159352.1/1;CC=c.409+202C>T;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.409+202C>T;VC=Intron;DM=REG4/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:376:43.63:43.63:0.00:1.00:1.00:0.00:60:55.2:0:0:44:106:10:NM_001159352.1(REG4) c.409+202C>T,NM_001159352.1(REG4) c.409+202C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 120341226 . C . . NT END=120342347;NT GT ./. 1 120342032 rs58896268 TACACAC T 16 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=REG4/NM_001159352.1/1;CC=c.303+310_303+315delGTGTGT;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.303+310_303+315delGTGTGT;VC=Intron;DM=REG4/Lectin_C;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:TACACAC,T:7:6:0:6:2,5:39,185:0.00,15.64:0.00,10.34:0.00,5.30:0.00,0.97:0.00,1.00:0.00,0.98:60,60:17.5,36.4:0,1:0,0:102,63:29,86:9,26:-,NM_001159352.1(REG4) c.303+310_303+315delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 120342486 . C . . NT END=120344945;NT GT ./. 1 120344715 rs1660607 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8395,T/0.1605;Gene=REG4/NM_001159352.1/1;CC=c.165+976G>A;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.165+976G>A;VC=Intron;DM=REG4/Lectin_C;DM=REG4/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:6:6:0:0:3,3:103,94:0.00,9.02:0.00,9.02:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,70:0.0,45.7:0,0:0,0:38,46:113,105:11,15:-,NM_001159352.1(REG4) c.165+976G>A:-,0.14:-,NOT_FOUND 1 120344880 rs2282402 T G 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.8051,G/0.1949;Gene=REG4/NM_001159352.1/1;CC=c.165+811A>C;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.165+811A>C;VC=Intron;DM=REG4/Lectin_C;DM=REG4/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:29:0:0:16,14:487,418:47.32,0.00:44.10,0.00:3.22,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:74.4,72.4:0,0:0,0:39,38:111,113:28,28:NM_001159352.1(REG4) c.165+811A>C,-:0.17,-:NOT_FOUND,- 1 120344900 rs2282403 G A 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.488,A/0.512;Gene=REG4/NM_001159352.1/1;CC=c.165+791C>T;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.165+791C>T;VC=Intron;DM=REG4/Lectin_C;DM=REG4/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:35:0:0:18,18:547,571:52.40,0.00:47.99,0.00:4.41,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,60:70.4,67.1:0,0:0,0:46,56:104,94:33,29:NM_001159352.1(REG4) c.165+791C>T,-:0.57,-:NOT_FOUND,- 1 120344936 rs1660606 G C 184 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.2212,C/0.7788;PC=0.009;Gene=REG4/NM_001159352.1/1;CC=c.165+755C>G;VC=Intron;Gene=REG4/NM_032044.3/0;CC=c.165+755C>G;VC=Intron;DM=REG4/Lectin_C;DM=REG4/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:C,G:55:49:0:0:54,1:1603,24:183.71,0.00:134.55,0.00:49.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.6,238.0:0,2:0,0:51,63:89,88:36,0:NM_001159352.1(REG4) c.165+755C>G,NM_001159352.1(REG4) c.165+755C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 120345789 . C . . NT END=120351325;NT GT ./. 1 120351393 . C . . NT END=120377387;NT GT ./. 1 120377528 . C . . NT END=120378619;NT GT ./. 1 120378678 rs3009182 C T 357 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.3716,T/0.6284;PC=0.002;Gene=NBPF7/NM_001047980.2/1;CC=c.1068G>A;ProtCh=p.Q356=;VC=Silent;DM=NBPF7/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:92:74:0:0:92:3134:357.23:220.66:136.57:1.00:1.00:1.00:60:38.7:0:0:78:67:30:NM_001047980.1(NBPF7) c.1068G>A (p.(=)),NM_001047980.1(NBPF7) c.1068G>A (p.(=)):0.63,0.63:0.69071,0.69071 1 120378832 . C . . NT END=120379906;NT GT ./. 1 120379730 rs35167460 C CA 23 idl,rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=45;PC=0.035;Gene=NBPF7/NM_001047980.2/1;CC=c.914+176_914+177insT;VC=Intron;DM=NBPF7/DUF1220;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,CA:10:13:10:0:3,7:102,324:0.00,22.85:0.00,22.85:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:26.7,56.4:1,3:0,0:122,51:28,99:14,22:-,NM_001047980.1(NBPF7) c.914+176_914+177insT:-,NOT_FOUND:-,NOT_FOUND 1 120379737 rs9428170 G A 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3716,A/0.6284;PC=0.009;Gene=NBPF7/NM_001047980.2/1;CC=c.914+170C>T;VC=Intron;DM=NBPF7/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:2:12:396:45.32:45.32:0.00:1.00:1.00:0.00:60:41.7:0:0:60:90:33:NM_001047980.1(NBPF7) c.914+170C>T,NM_001047980.1(NBPF7) c.914+170C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 120379983 . C . . NT END=120381806;NT GT ./. 1 120380008 rs3009184 T A 199 nt VT=SNV;PN=G;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.375,A/0.625;PC=0.061;Gene=NBPF7/NM_001047980.2/1;CC=c.839-26A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:A:54:31:0:0:54:1729:198.63:71.83:126.80:1.00:1.00:1.00:60:37.8:0:0:106:39:32:NM_001047980.1(NBPF7) c.839-26A>T,NM_001047980.1(NBPF7) c.839-26A>T:0.63,0.63:0.688636,0.688636 1 120381686 rs5777416 G GTGTGAGTCA 51 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.02157,GT/.,GTGT/.,GTGTGA/0.9784,GTGTGAGTCA/.;NP=12;PC=0.731;Gene=NBPF7/NM_001047980.2/1;CC=c.838+120_838+121insTGACTCACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:G,GTGTGAGTCA:18:18:15:0:3,15:103,477:0.00,51.33:0.00,49.53:0.00,1.80:0.00,1.00:0.00,1.00:0.00,0.89:60,60:0.0,41.7:0,0:0,0:140,58:1,93:5,28:-,NM_001047980.1(NBPF7) c.838+120_838+121insTGACTCACA:-,NOT_FOUND:-,NOT_FOUND 1 120381687 rs34302627 G C 60 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.02157,GGTGAGTCAC/.,GTCAC/0.9784,GTGAGTCAC/.;PC=0.714;Gene=NBPF7/NM_001047980.2/1;CC=c.838+120C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:526:60.23:58.19:2.04:1.00:1.00:1.00:60:40.9:0:0:48:102:20:NM_001047980.1(NBPF7) c.838+120C>G,NM_001047980.1(NBPF7) c.838+120C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 120381846 rs61789693 A G 421 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.9852,G/0.01478;Gene=NBPF7/NM_001047980.2/1;CC=c.799T>C;ProtCh=p.S267P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:116:100:0:0:1,115:10,3665:0.09,420.70:0.09,316.21:0.00,104.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.0,42.1:0,0:0,0:69,53:73,98:0,27:NM_001047980.1(NBPF7) c.799T>C (p.Ser267Pro),NM_001047980.1(NBPF7) c.799T>C (p.Ser267Pro):0.02,0.02:0.048883,0.048883 1 120382019 . C . . NT END=120382879;NT GT ./. 1 120382121 rs2226084 C T 207 nt VT=SNV;PN=T;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.3768,T/0.6232;PC=0.406;Gene=NBPF7/NM_001047980.2/1;CC=c.627-103G>A;VC=Intron;DM=NBPF7/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:G,T:58:3:0:0:1,57:10,1799:0.16,206.57:0.00,9.32:0.16,197.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:126.0,41.5:0,0:0,0:80,104:71,46:0,29:NM_001047980.1(NBPF7) c.627-103G>A,NM_001047980.1(NBPF7) c.627-103G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 120382953 . C . . NT END=120384008;NT GT ./. 1 120384205 rs2994820 A G 242 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.375,G/0.625;PC=0.865;Gene=NBPF7/NM_001047980.2/1;CC=c.357T>C;ProtCh=p.V119=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:24:0:0:66:2105:241.88:58.49:183.39:1.00:1.00:1.00:60:39.5:0:0:99:49:25:NM_001047980.1(NBPF7) c.357T>C (p.(=)),NM_001047980.1(NBPF7) c.357T>C (p.(=)):0.6,0.6:0.676204,0.676204 1 120384224 . C . . NT END=120385055;NT GT ./. 1 120385159 . C . . NT END=120386923;NT GT ./. 1 120387120 rs12405228 G A 494 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.642,A/0.358;PC=0.028;Gene=NBPF7/NM_001047980.2/1;CC=c.39C>T;ProtCh=p.T13=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:131:71:0:0:131:4318:494.14:205.75:288.39:1.00:1.00:1.00:60:40.1:0:0:91:56:35:NM_001047980.1(NBPF7) c.39C>T (p.(=)),NM_001047980.1(NBPF7) c.39C>T (p.(=)):0.4,0.4:0.41966,0.41966 1 120387159 . G . . NT END=120436586;NT GT ./. 1 120387376 rs2153676 A G 545 nt VT=SNV;PN=C;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=A/0.2167,G/0.7833;PC=0.015;Gene=NBPF7/NM_001047980.2/1;CC=c.-218T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:151:100:0:0:151:4732:544.60:265.80:278.80:1.00:1.00:1.00:60:39.5:0:0:62:89:33:NM_001047980.1(NBPF7) c.-218T>C,NM_001047980.1(NBPF7) c.-218T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 120404614 rs3850866 T C 120 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.4577,C/0.5423 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:C,T:35:32:0:0:34,1:1057,10:120.24,0.00:89.38,0.00:30.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,136.0:0,0:0,0:36,51:111,61:30,0:chr1 g.120404613T>C (intergenic),chr1 g.120404613T>C (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 1 120438960 . G . . NT END=120457928;NT GT ./. 1 120459318 . C . . NT END=120460287;NT GT ./. 1 120460386 . C . . NT END=120461028;NT GT ./. 1 120461177 . C . . NT END=120461934;NT GT ./. 1 120462237 . C . . NT END=120462851;NT GT ./. 1 120463021 . C . . NT END=120464335;NT GT ./. 1 120463044 rs41306195 C T 309 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.982,G/.,T/0.01797;Gene=NOTCH2/NM_024408.3/1;CC=c.5311-24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:82:44:0:0:82:2704:309.46:118.36:191.10:1.00:1.00:1.00:60:37.5:0:0:91:46:25:NM_024408.3(NOTCH2) c.5311-24G>A,NM_024408.3(NOTCH2) c.5311-24G>A:0.03,0.03:0.048209,0.048209 1 120464433 . C . . NT END=120464858;NT GT ./. 1 120465070 . C . . NT END=120465258;NT GT ./. 1 120465402 . C . . NT END=120466259;NT GT ./. 1 120466608 . C . . NT END=120467927;NT GT ./. 1 120468434 . C . . NT END=120469121;NT GT ./. 1 120469235 . C . . NT END=120471598;NT GT ./. 1 120471424 rs2493393 C T 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.02137,T/0.9786;Gene=NOTCH2/NM_024408.3/1;CC=c.3892+175G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:289:34.03:34.03:0.00:1.00:1.00:0.00:60:39.4:0:0:34:117:13:NM_024408.3(NOTCH2) c.3892+175G>A,NM_024408.3(NOTCH2) c.3892+175G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 120471836 . C . . NT END=120477735;NT GT ./. 1 120478228 . C . . NT END=120479904;NT GT ./. 1 120478285 rs5025718 T C 141 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.3956,C/0.6044;Gene=NOTCH2/NM_024408.3/1;CC=c.3523-58A>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.3523-58A>G;VC=Intron;DM=NOTCH2/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:C:42:14:0:0:42:1214:141.08:33.30:107.77:1.00:1.00:1.00:60:46.3:0:0:104:43:27:NM_024408.3(NOTCH2) c.3523-58A>G,NM_024408.3(NOTCH2) c.3523-58A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 120480090 . C . . NT END=120480479;NT GT ./. 1 120480394 rs2453057 T C 153 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.02137,C/0.9786;Gene=NOTCH2/NM_024408.3/1;CC=c.3337+86A>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.3337+86A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C:42:38:0:0:42:1332:153.15:132.87:20.28:1.00:1.00:1.00:60:36.3:0:0:64:87:44:NM_024408.3(NOTCH2) c.3337+86A>G,NM_024408.3(NOTCH2) c.3337+86A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 120480634 . C . . NT END=120483177;NT GT ./. 1 120482907 rs4274109 A C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02117,C/0.9788;Gene=NOTCH2/NM_024408.3/1;CC=c.3183+271T>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.3183+271T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:41.5:0:0:62:88:56:NM_024408.3(NOTCH2) c.3183+271T>G,NM_024408.3(NOTCH2) c.3183+271T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 120483380 . C . . NT END=120484148;NT GT ./. 1 120484378 . C . . NT END=120491036;NT GT ./. 1 120491190 . C . . NT END=120491629;NT GT ./. 1 120491750 . C . . NT END=120493346;NT GT ./. 1 120493461 . C . . NT END=120496165;NT GT ./. 1 120496312 . C . . NT END=120497662;NT GT ./. 1 120497856 . C . . NT END=120502014;NT GT ./. 1 120498086 rs4659250 G C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3956,C/0.6044;PC=0.001;Gene=NOTCH2/NM_024408.3/1;CC=c.2027-231C>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.2027-231C>G;VC=Intron;DM=NOTCH2/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:152:17.56:0.00:17.56:1.00:0.00:1.00:60:64.4:0:0:25:126:5:NM_024408.3(NOTCH2) c.2027-231C>G,NM_024408.3(NOTCH2) c.2027-231C>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 120502126 . C . . NT END=120506196;NT GT ./. 1 120505996 rs10923929 G C 53 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4002,C/0.5998;Gene=NOTCH2/NM_024408.3/1;CC=c.1915+201C>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.1915+201C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:15:0:0:15:463:53.41:51.42:1.99:1.00:1.00:1.00:60:35.7:0:0:38:113:30:NM_024408.3(NOTCH2) c.1915+201C>G,NM_024408.3(NOTCH2) c.1915+201C>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 120506431 . C . . NT END=120508075;NT GT ./. 1 120508190 . C . . NT END=120508998;NT GT ./. 1 120509113 . C . . NT END=120510055;NT GT ./. 1 120510245 . C . . NT END=120510699;NT GT ./. 1 120510856 . C . . NT END=120512133;NT GT ./. 1 120512104 rs2493409 T C 242 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.02137,C/0.9786;Gene=NOTCH2/NM_024408.3/1;CC=c.1108+30A>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.1108+30A>G;VC=Intron;DM=NOTCH2/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:A,C:71:66:0:0:2,69:25,2099:0.76,241.72:0.35,209.71:0.41,32.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.5,37.2:0,0:0,0:66,46:84,102:56,32:NM_024408.3(NOTCH2) c.1108+30A>G,NM_024408.3(NOTCH2) c.1108+30A>G:0.98,0.98:0.973551,0.973551 1 120512368 . C . . NT END=120529582;NT GT ./. 1 120529706 . C . . NT END=120539619;NT GT ./. 1 120539331 rs2124109 C T 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2;NP=2989;Gene=NOTCH2/NM_024408.3/1;CC=c.751+289G>A;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.751+289G>A;VC=Intron;DM=NOTCH2/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,C,T:23:20:0:0:1,16,6:12,484,206:0.15,0.00,17.87:0.25,0.00,13.48:-0.09,0.00,4.39:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.92:60,60,55:28.0,7.9,39.5:0,0,0:0,0,0:117,75,68:34,65,82:0,23,33:-,NM_024408.3(NOTCH2) c.751+289G>A:-,NOT_FOUND:-,NOT_FOUND 1 120539956 . C . . NT END=120547951;NT GT ./. 1 120548212 . C . . NT END=120572528;NT GT ./. 1 120572547 rs61788900 T C 32 lc VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1402;PC=1.000;Gene=NOTCH2/NM_024408.3/1;CC=c.137A>G;ProtCh=p.N46S;VC=Missense;Gene=NOTCH2/NM_001200001.1/0;CC=c.137A>G;ProtCh=p.N46S;VC=Missense;DM=NOTCH2/EGF;DM=NOTCH2/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:24:23:0:0:10,1,13:342,10,400:32.14,0.08,0.00:32.37,0.10,0.00:-0.23,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.61,0.00,0.00:40,40,40:73.6,211.0,3.4:0,0,0:0,0,0:68,52,26:81,88,125:29,0,17:NM_024408.3(NOTCH2) c.137A>G (p.Asn46Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 120572572 rs61788901 C T 37 lc VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1317;PC=0.998;Gene=NOTCH2/NM_024408.3/1;CC=c.112G>A;ProtCh=p.E38K;VC=Missense;Gene=NOTCH2/NM_001200001.1/0;CC=c.112G>A;ProtCh=p.E38K;VC=Missense;DM=NOTCH2/EGF;DM=NOTCH2/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:27:0:0:16,12:530,392:0.00,36.63:0.00,36.87:0.00,-0.24:0.00,1.00:0.00,1.00:0.00,0.62:40,40:15.9,69.5:0,0:0,0:49,70:100,79:17,28:-,NM_024408.3(NOTCH2) c.112G>A (p.Glu38Lys):-,NOT_FOUND:-,NOT_FOUND 1 120572611 . C . . NT END=120594097;NT GT ./. 1 120572806 rs4659262 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=932;Gene=NOTCH2/NM_024408.3/1;CC=c.74-196C>T;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.74-196C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:7,11:200,346:18.10,0.00:0.00,0.00:18.10,0.00:0.98,0.00:0.00,0.00:0.98,0.00:56,56:57.7,2.5:0,0:0,0:136,122:15,29:13,12:NM_024408.3(NOTCH2) c.74-196C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 120593877 . ACACACACACACG A 7 nt VT=DEL;SST=Single;DP=24;NP=4;Gene=NOTCH2/NM_024408.3/1;CC=c.73+18059_73+18070delCGTGTGTGTGTG;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+18059_73+18070delCGTGTGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:ACACACACACACG,A:24:22:0:3:21,3:691,93:0.00,6.81:0.00,6.95:0.00,-0.14:0.00,0.47:0.00,0.88:0.00,0.38:60,33:43.0,85.0:0,0:0,0:38,48:93,102:22,9:-,NM_024408.3(NOTCH2) c.73+18059_73+18070delCGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 120593889 rs61788944 G A 19 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=100;Gene=NOTCH2/NM_024408.3/1;CC=c.73+18059C>T;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+18059C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:20:0:3:7,15:220,364:19.38,0.00:19.71,0.00:-0.33,0.00:0.97,0.00:1.00,0.00:0.61,0.00:54,60:73.4,22.6:2,0:0,0:30,36:113,113:12,30:NM_024408.3(NOTCH2) c.73+18059C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 120594223 rs3978540 T C 370 lc VT=SNV;PN=A;NN=A;SST=Single;DP=402;DB;DBA=NA;PAF=NA;PC=0.031;Gene=NOTCH2/NM_024408.3/1;CC=c.73+17725A>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+17725A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:402:291:0:0:125,277:4182,8745:369.67,0.00:187.93,0.00:181.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:39.9,10.4:0,0:0,0:81,87:67,64:28,28:NM_024408.3(NOTCH2) c.73+17725A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 120594559 rs200691495 C T 32 lc VT=SNV;PN=C;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=NA;NP=410;PC=0.015;Gene=NOTCH2/NM_024408.3/1;CC=c.73+17389G>A;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+17389G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,C,T:149:102:0:0:1,134,14:11,4143,454:-0.32,0.00,32.04:-0.22,0.00,23.45:-0.09,0.00,8.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:49,52,40:106.0,4.6,51.7:0,0,0:0,0,0:64,54,76:86,91,74:0,35,33:-,NM_024408.3(NOTCH2) c.73+17389G>A:-,NOT_FOUND:-,NOT_FOUND 1 120594638 . A G 43 lc VT=SNV;PN=G;NN=C;SST=Single;DP=168;NP=1;PC=0.995;Gene=NOTCH2/NM_024408.3/1;CC=c.73+17310T>C;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+17310T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:168:96:0:0:149,19:4445,591:0.00,42.50:0.00,34.23:0.00,8.27:0.00,1.00:0.00,1.00:0.00,1.00:53,49:5.3,46.2:0,0:0,0:87,38:59,113:27,36:-,NM_024408.3(NOTCH2) c.73+17310T>C:-,NOT_FOUND:-,NOT_FOUND 1 120594749 . A . . NT END=120611947;NT GT ./. 1 120611496 rs138685616 C A 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.672;Gene=NOTCH2/NM_024408.3/1;CC=c.73+452G>T;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+452G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:38:38:0:0:14,24:429,763:38.71,0.00:37.04,0.00:1.67,0.00:1.00,0.00:1.00,0.00:0.58,0.00:40,55:81.1,21.9:0,0:0,0:20,50:130,100:10,37:NM_024408.3(NOTCH2) c.73+452G>T,-:0.28,-:NOT_FOUND,- 1 120611498 rs2489097 G C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.901;Gene=NOTCH2/NM_024408.3/1;CC=c.73+450C>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+450C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:38:38:0:0:8,30:279,896:23.23,0.00:23.28,0.00:-0.05,0.00:0.97,0.00:0.97,0.00:0.47,0.00:40,55:67.8,31.8:0,0:0,0:24,24:126,126:13,19:NM_024408.3(NOTCH2) c.73+450C>G,-:0.15,-:NOT_FOUND,- 1 120611554 rs75248693 T C 118 nt VT=SNV;PN=A;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NOTCH2/NM_024408.3/1;CC=c.73+394A>G;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+394A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:102:90:0:0:39,63:1285,1944:117.68,0.00:76.01,0.00:41.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,50:74.8,17.6:0,0:0,0:32,39:111,107:14,25:NM_024408.3(NOTCH2) c.73+394A>G,-:0.16,-:NOT_FOUND,- 1 120611555 . T G 118 nt VT=SNV;PN=T;NN=C;SST=Single;DP=103;NP=446;PC=1.000;Gene=NOTCH2/NM_024408.3/1;CC=c.73+393A>C;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+393A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:103:91:0:0:41,62:1286,1955:118.05,0.00:74.29,0.00:43.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,50:74.9,14.7:0,0:0,0:27,35:121,113:17,23:NM_024408.3(NOTCH2) c.73+393A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 120611715 rs2794167 A G 173 nt VT=SNV;PN=T;NN=A;SST=Single;DP=198;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NOTCH2/NM_024408.3/1;CC=c.73+233T>C;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+233T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:198:143:0:0:135,63:4138,1969:0.00,173.19:0.00,105.52:0.00,67.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,66.6:0,0:0,0:72,59:76,92:32,38:-,NM_024408.3(NOTCH2) c.73+233T>C:-,0.31:-,NOT_FOUND 1 120611758 rs61790276 G A 146 nt VT=SNV;PN=C;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NOTCH2/NM_024408.3/1;CC=c.73+190C>T;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:204:155:0:0:56,148:1714,4292:146.14,0.00:102.60,0.00:43.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.1,11.8:0,0:0,0:65,67:83,82:25,40:NM_024408.3(NOTCH2) c.73+190C>T,-:0.3,-:NOT_FOUND,- 1 120611830 rs61790277 G A 225 nt VT=SNV;PN=C;NN=C;SST=Single;DP=292;DB;DBA=NA;PAF=NA;Gene=NOTCH2/NM_024408.3/1;CC=c.73+118C>T;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+118C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:292:231:0:0:88,2,202:2603,17,5840:225.18,-0.51,0.00:170.17,-0.38,0.00:55.01,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:89.0,85.5,19.6:0,0,0:0,0,0:46,124,45:102,26,104:29,7,30:NM_024408.3(NOTCH2) c.73+118C>T,-:0.32,-:NOT_FOUND,- 1 120611876 rs11801062 C T 348 nt VT=SNV;PN=C;NN=G;SST=Single;DP=410;DB;DBA=NA;PAF=NA;NP=90;Gene=NOTCH2/NM_024408.3/1;CC=c.73+72G>A;VC=Intron;Gene=NOTCH2/NM_001200001.1/0;CC=c.73+72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:410:336:0:0:1,287,122:13,8637,3975:-0.20,0.00,347.60:-0.18,0.00,244.87:-0.03,0.00,102.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:3,60,60:212.0,14.2,87.0:0,2,0:0,0,0:55,52,54:96,98,92:0,32,31:-,NM_024408.3(NOTCH2) c.73+72G>A:-,NOT_FOUND:-,NOT_FOUND 1 120611960 rs2603926 C T 487 lc VT=SNV;PN=G;NN=C;SST=Single;DP=827;DB;DBA=NA;PAF=NA;PC=0.972;Gene=NOTCH2/NM_024408.3/1;CC=c.61G>A;ProtCh=p.A21T;VC=Missense;Gene=NOTCH2/NM_001200001.1/0;CC=c.61G>A;ProtCh=p.A21T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:827:689:0:0:4,611,5,207:48,19993,54,5892:-0.91,0.00,-1.18,487.22:-0.41,0.00,-0.57,394.74:-0.50,0.00,-0.61,92.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:51,60,51,52:69.2,34.1,56.0,69.9:0,0,0,0:0,0,0,0:12,66,50,40:103,79,101,99:4,33,20,19:-,NM_024408.3(NOTCH2) c.61G>A (p.Ala21Thr):-,0.15:-,NOT_FOUND 1 120611964 rs11810554 G C 526 lc VT=SNV;PN=C;NN=C;SST=Single;DP=836;DB;DBA=NA;PAF=NA;PC=0.998;Gene=NOTCH2/NM_024408.3/1;CC=c.57C>G;ProtCh=p.C19W;VC=Missense;Gene=NOTCH2/NM_001200001.1/0;CC=c.57C>G;ProtCh=p.C19W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:836:691:0:0:2,201,633:33,6297,20028:-0.23,525.81,0.00:-0.07,309.00,0.00:-0.16,216.81,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:58,60,60:73.0,82.0,30.2:0,0,0:0,0,0:85,63,53:62,85,95:38,32,28:NM_024408.3(NOTCH2) c.57C>G (p.Cys19Trp),-:0.32,-:NOT_FOUND,- 1 120612002 rs372504208 CGG C 288 lc VT=DEL;SST=Single;DP=942;DB;DBA=NA;PAF=NA;NP=220;PC=0.930;Gene=NOTCH2/NM_024408.3/1;CC=c.17_18delCC;ProtCh=p.P6Rfs*27;VC=FrameShiftDel;Gene=NOTCH2/NM_001200001.1/0;CC=c.17_18delCC;ProtCh=p.P6Rfs*27;VC=FrameShiftDel;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CGG,T,C:942:736:0:213:1,728,1,212:10,23486,35,4013:-0.30,0.00,0.71,287.73:-0.17,0.00,-0.18,200.23:-0.13,0.00,0.89,87.49:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,3,60:161.0,31.2,47.0,75.4:0,1,0,0:0,0,0,0:95,76,15,72:56,64,136,57:0,35,0,26:-,NM_024408.3(NOTCH2) c.15C[2] (p.Pro6Argfs*27):-,NOT_FOUND:-,NOT_FOUND 1 120612006 rs4021006 G A 536 lc VT=SNV;PN=G;NN=C;SST=Single;DP=929;DB;DBA=NA;PAF=G/0.606,A/0.394,C/.;NP=1191;NP=14;PC=0.988;Gene=NOTCH2/NM_024408.3/1;CC=c.15C>T;ProtCh=p.R5=;VC=Silent;Gene=NOTCH2/NM_001200001.1/0;CC=c.15C>T;ProtCh=p.R5=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:929:729:0:0:212,2,715:6509,24,23270:535.82,-0.54,0.00:288.43,-0.39,0.00:247.39,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,54,60:77.1,75.0,30.6:0,1,202:0,0,0:85,118,66:55,-5,72:28,25,29:NM_024408.3(NOTCH2) c.15C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 120612013 rs200646249 G A 244 lc VT=SNV;PN=G;NN=C;SST=Single;DP=944;DB;DBA=NA;PAF=NA;NP=3;PC=1.000;Gene=NOTCH2/NM_024408.3/1;CC=c.8C>T;ProtCh=p.A3V;VC=Missense;Gene=NOTCH2/NM_001200001.1/0;CC=c.8C>T;ProtCh=p.A3V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:944:737:0:0:104,839,1:3365,27027,10:244.34,0.00,-0.35:163.59,0.00,-0.20:80.74,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,60,57:100.9,32.6,197.0:0,0,0:0,0,0:78,71,116:70,68,33:35,31,0:NM_024408.3(NOTCH2) c.8C>T (p.Ala3Val),-:NOT_FOUND,-:NOT_FOUND,- 1 120612014 . C A 253 lc VT=SNV;PN=G;NN=G;SST=Single;DP=955;NP=4;PC=1.000;Gene=NOTCH2/NM_024408.3/1;CC=c.7G>T;ProtCh=p.A3S;VC=Missense;Gene=NOTCH2/NM_001200001.1/0;CC=c.7G>T;ProtCh=p.A3S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:955:750:0:0:105,849,1:3458,27600,8:252.66,0.00,-0.36:165.37,0.00,-0.22:87.29,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,60,51:102.1,34.0,37.0:0,0,0:0,0,0:74,79,17:74,56,134:32,33,0:NM_024408.3(NOTCH2) c.7G>T (p.Ala3Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 120612034 rs201668322 T G 225 lc VT=SNV;PN=C;NN=C;SST=Single;DP=938;DB;DBA=NA;PAF=NA;NP=22;PC=1.000;Gene=NOTCH2/NM_024408.3/1;CC=c.-14A>C;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-14A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:938:697:0:1:1,7,102,828:10,73,3154,26488:-0.35,-1.52,225.11,0.00:-0.20,-0.64,147.62,0.00:-0.15,-0.88,77.49,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:3,55,59,60:49.0,64.0,63.3,38.4:1,0,0,96:0,0,0,0:36,66,99,84:115,75,27,59:0,31,20,33:NM_024408.3(NOTCH2) c.-14A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 120612037 rs59571254 TCCTCCGCCG T 145 lc VT=DEL;SST=Single;DP=937;DB;DBA=NA;PAF=NA;NP=26;PC=0.002;Gene=NOTCH2/NM_024408.3/1;CC=c.-26_-18delCGGCGGAGG;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-26_-18delCGGCGGAGG;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G,TCCTCCGCCG,I,T:934:691:3:89:6,9,831,3,85:54,234,27076,63,2286:-1.85,7.45,0.00,-0.10,144.96:-1.04,4.92,0.00,-0.59,118.74:-0.81,2.53,0.00,0.49,26.22:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:57,54,60,40,52:48.0,98.6,42.2,109.7,17.2:0,0,181,0,3:0,0,0,0,0:41,7,92,58,57:110,144,49,90,90:22,2,31,7,19:-,NM_024408.3(NOTCH2) c.-26_-18delCGGCGGAGG:-,NOT_FOUND:-,0.043239 1 120612040 rs3010135 T TCCTCCGCCG 356 idl,lc VT=INS;SST=Single;DP=849;DB;DBA=NA;PAF=NA;NP=2;PC=0.479;Gene=NOTCH2/NM_024408.3/1;CC=c.-21_-20insCGGCGGAGG;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-21_-20insCGGCGGAGG;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,TCCTCCGCCG,D:835:609:168:100:3,27,640,157,8:52,734,20579,4786,334:0.36,38.19,0.00,356.47,9.64:-0.58,26.88,0.00,202.78,2.83:0.94,11.31,0.00,153.68,6.81:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:54,45,60,55,56:98.7,87.0,34.2,74.2,32.4:0,0,4,11,3:0,0,0,0,0:127,63,100,70,67:7,88,35,73,69:15,62,30,25,42:-,NM_024408.3(NOTCH2) c.-21_-20insCGGCGGAGG:-,NOT_FOUND:-,NOT_FOUND 1 120612084 . G A 270 lc VT=SNV;PN=G;NN=G;SST=Single;DP=897;NP=2;PC=1.000;Gene=NOTCH2/NM_024408.3/1;CC=c.-64C>T;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-64C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:897:529:0:0:116,5,774,2:3638,34,23236,21:270.19,-1.88,0.00,-0.62:133.34,-0.78,0.00,-0.26:136.85,-1.10,0.00,-0.36:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:51,49,60,49:105.5,128.0,30.4,62.5:0,0,0,0:0,0,0,0:52,17,74,24:88,134,72,125:38,9,38,2:NM_024408.3(NOTCH2) c.-64C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 120612154 rs56375229 C G 677 lc VT=SNV;PN=G;NN=T;SST=Single;DP=890;DB;DBA=NA;PAF=NA;NP=261;Gene=NOTCH2/NM_024408.3/1;CC=c.-134G>C;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-134G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:890:494:0:0:2,642,246:21,21077,7873:-0.51,0.00,677.17:-0.20,0.00,255.14:-0.31,0.00,422.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:56,57,55:58.5,28.3,87.0:0,0,0:0,0,0:56,80,73:94,62,71:24,33,31:-,NM_024408.3(NOTCH2) c.-134G>C:-,NOT_FOUND:-,NOT_FOUND 1 120612163 rs55899574 C A 662 lc VT=SNV;PN=C;NN=C;SST=Single;DP=865;DB;DBA=NA;PAF=NA;NP=255;Gene=NOTCH2/NM_024408.3/1;CC=c.-143G>T;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-143G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:865:470:0:0:245,619,1:7689,19096,12:662.25,0.00,-0.25:254.86,0.00,-0.09:407.38,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:55,57,49:84.8,30.0,58.0:0,0,0:0,0,0:90,83,52:54,60,96:29,31,0:NM_024408.3(NOTCH2) c.-143G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 120612168 rs11801102 C T 303 lc VT=SNV;PN=G;NN=G;SST=Single;DP=847;DB;DBA=NA;PAF=NA;NP=209;PC=0.004;Gene=NOTCH2/NM_024408.3/1;CC=c.-148G>A;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-148G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:847:459:0:0:714,3,130:21786,33,3975:0.00,-1.07,302.74:0.00,-0.43,97.07:0.00,-0.64,205.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:56,56,58:43.2,67.3,58.7:0,0,0:0,0,0:89,66,86:55,71,55:30,20,30:-,NM_024408.3(NOTCH2) c.-148G>A:-,NOT_FOUND:-,NOT_FOUND 1 120612194 rs79247096 C G 242 lc VT=SNV;PN=C;NN=G;SST=Single;DP=715;DB;DBA=NA;PAF=NA;NP=134;Gene=NOTCH2/NM_024408.3/1;CC=c.-174G>C;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-174G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:715:363:0:0:1,605,108,1:17,17468,3214,10:-0.20,0.00,241.92,-0.25:-0.08,0.00,65.72,-0.08:-0.12,0.00,176.20,-0.17:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:49,60,54,55:17.0,45.6,51.1,105.0:0,0,0,0:0,0,0,0:93,103,104,49:58,42,45,102:0,24,24,0:-,NM_024408.3(NOTCH2) c.-174G>C:-,NOT_FOUND:-,NOT_FOUND 1 120612207 . C . . NT END=120835809;NT GT ./. 1 120612223 . AGCC A 119 nt VT=DEL;SST=Single;DP=541;NP=83;PC=0.994;Gene=NOTCH2/NM_024408.3/1;CC=c.-206_-204delGGC;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-206_-204delGGC;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGCC,C,G,T,A:541:233:0:66:473,3,1,1,63:15116,23,11,13,1728:0.00,-1.10,-0.38,-0.36,119.40:0.00,-0.31,-0.10,-0.06,26.46:0.00,-0.79,-0.28,-0.31,92.94:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,51,15,15,54:45.4,169.3,74.0,76.0,56.2:0,0,0,0,0:0,0,0,0,0:104,98,48,136,112:39,53,103,13,36:25,31,0,0,20:-,NM_024408.3(NOTCH2) c.-212GGC[2]:-,NOT_FOUND:-,NOT_FOUND 1 120612265 rs375584849 A G 489 nt VT=SNV;PN=A;NN=C;SST=Single;DP=301;DB;DBA=NA;PAF=NA;NP=155;PC=0.347;Gene=NOTCH2/NM_024408.3/1;CC=c.-245T>C;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-245T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:301:52:0:0:152,149:4575,5082:0.00,488.75:0.00,37.72:0.00,451.03:0.00,1.00:0.00,1.00:0.00,1.00:60,46:13.8,84.7:0,0:0,0:112,118:34,31:28,18:-,NM_024408.3(NOTCH2) c.-245T>C:-,NOT_FOUND:-,NOT_FOUND 1 120612269 . A G 90 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=284;NP=43;PC=0.819;Gene=NOTCH2/NM_024408.3/1;CC=c.-249T>C;VC=5UTR;Gene=NOTCH2/NM_001200001.1/0;CC=c.-249T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:284:44:0:0:244,2,38:7988,10,1205:0.00,-0.71,90.29:0.00,-0.08,-0.07:0.00,-0.63,90.37:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,42,45:40.7,40.0,94.8:0,0,0:0,0,0:118,53,113:30,97,35:21,3,19:-,NM_024408.3(NOTCH2) c.-249T>C:-,NOT_FOUND:-,NOT_FOUND 1 120612373 rs369348128 C T 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=27;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,C,G,T:53:0:0:0:1,44,1,7:11,1314,8,221:-0.15,0.00,-0.26,16.59:0.00,0.00,0.00,0.00:-0.15,0.00,-0.26,16.59:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.92:15,43,40,40:34.0,31.8,204.0,98.0:0,0,0,0:0,0,0,0:29,101,91,106:122,48,58,45:0,31,0,17:-,NM_024408.3(NOTCH2) c.-297-u56G>A:-,NOT_FOUND:-,NOT_FOUND 1 120612432 rs191422989 A C 86 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:0:0:0:25:740:85.87:0.00:85.87:1.00:0.00:1.00:40:60.0:0:0:100:51:32:NM_024408.3(NOTCH2) c.-297-u115T>G,NM_024408.3(NOTCH2) c.-297-u115T>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 120612533 rs371189735 G A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=49;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,G:9:0:0:0:4,5:121,152:11.31,0.00:0.00,0.00:11.31,0.00:0.85,0.00:0.00,0.00:0.85,0.00:40,40:52.8,64.4:0,0:0,0:94,106:45,45:12,8:NM_024408.3(NOTCH2) c.-297-u216C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 120835877 . G . . NT END=120839833;NT GT ./. 1 120839743 . C T 26 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=124;NP=132;PC=0.007;Gene=FAM72B/NM_001100910.1/1;CC=c.-91C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:124:115:0:0:111,13:3573,376:0.00,25.83:0.00,23.82:0.00,2.01:0.00,1.00:0.00,1.00:0.00,0.90:54,15:9.3,49.1:0,0:0,0:38,108:112,43:18,25:-,NM_001100910.1(FAM72B) c.-91C>T:-,NOT_FOUND:-,NOT_FOUND 1 120839986 . G . . NT END=120841974;NT GT ./. 1 120842053 . G . . NT END=120845994;NT GT ./. 1 120845738 . CAATAAT C 12 rn VT=DEL;SST=Single;DP=10;PC=0.019;Gene=FAM72B/NM_001100910.1/1;CC=c.231-222_231-217delATAATA;VC=Intron;DM=FAM72B/FAM72;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:CAATAAT,C:10:10:0:4:6,4:184,126:0.00,11.59:0.00,11.59:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:43,49:11.5,2.8:0,0:0,0:102,79:41,71:8,15:-,NM_001100910.1(FAM72B) c.231-256_231-251delAATAAT:-,NOT_FOUND:-,NOT_FOUND 1 120845861 rs9777738 T C 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=522;PC=0.007;Gene=FAM72B/NM_001100910.1/1;CC=c.231-134T>C;VC=Intron;DM=FAM72B/FAM72 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:30:0:0:20,11:653,354:66.05,0.00:66.50,0.00:-0.45,0.00:1.00,0.00:1.00,0.00:0.76,0.00:25,49:75.0,0.0:0,0:0,0:61,66:90,84:12,33:NM_001100910.1(FAM72B) c.231-134T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 120845867 rs9778196 A G 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=562;PC=0.455;Gene=FAM72B/NM_001100910.1/1;CC=c.231-128A>G;VC=Intron;DM=FAM72B/FAM72 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:31:0:0:11,21:368,713:0.00,72.37:0.00,72.84:0.00,-0.46:0.00,1.00:0.00,1.00:0.00,0.77:49,25:0.0,73.4:0,0:0,0:72,65:78,86:33,15:-,NM_001100910.1(FAM72B) c.231-128A>G:-,NOT_FOUND:-,NOT_FOUND 1 120846120 . G . . NT END=120854491;NT GT ./. 1 120854587 . A . . NT END=120924755;NT GT ./. 1 120904791 rs2791063 A G 514 nt VT=SNV;PN=C;NN=C;SST=Single;DP=333;DB;DBA=NA;PAF=C/0.1254,T/0.8746;PC=0.131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:333:271:0:0:162,171:5092,5322:0.00,513.51:0.00,333.35:0.00,180.16:0.00,1.00:0.00,1.00:0.00,1.00:60,42:9.6,40.4:0,0:0,0:62,53:85,89:35,28:-,NR_027337.1(HIST2H2BA) n.-1243A>G:-,0.86:-,NOT_FOUND 1 120924790 . G . . NT END=120925329;NT GT ./. 1 120924913 rs202189190 G C 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=351;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:46:3:0:0:10,35,1:301,1142,9:24.53,0.00,-0.18:2.08,0.00,-0.00:22.46,0.00,-0.18:0.99,0.00,0.00:0.56,0.00,0.00:1.00,0.00,0.00:40,42,25:89.9,6.5,97.0:0,0,0:0,0,0:90,107,20:60,44,131:16,25,0:XM_003846365.1(LOC100996318) c.34+124G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 120925663 rs827373 C T 920 lc VT=SNV;PN=C;NN=G;SST=Single;DP=255;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:255:148:0:0:2,253:46,8052:0.00,920.49:0.00,413.54:0.00,506.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.5,40.0:1,0:0,0:139,99:11,47:9,26:XM_003846365.1(LOC100996318) c.368C>T (p.Pro123Leu),XM_003846365.1(LOC100996318) c.368C>T (p.Pro123Leu):0.97,0.97:NOT_FOUND,NOT_FOUND 1 120926121 . A . . NT END=120927136;NT GT ./. 1 120927008 rs199814764 T C 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=929;PC=0.995;Gene=FCGR1B/NM_001004340.3/0;CC=c.*129A>G;VC=3UTR;Gene=FCGR1B/NM_001017986.3/1;CC=c.*129A>G;VC=3UTR;Gene=FCGR1B/NR_045213.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:78:78:0:0:20,58:589,1881:49.17,0.00:46.05,0.00:3.12,0.00:1.00,0.00:1.00,0.00:0.62,0.00:42,52:65.2,23.9:0,0:0,0:45,38:104,113:38,26:NM_001017986.3(FCGR1B) c.*129A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 120927081 rs76856338 C T 173 nt VT=SNV;PN=A;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=NA;NP=2813;Gene=FCGR1B/NM_001004340.3/0;CC=c.*56G>A;VC=3UTR;Gene=FCGR1B/NM_001017986.3/1;CC=c.*56G>A;VC=3UTR;Gene=FCGR1B/NR_045213.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:140:129:0:0:1,82,57:10,2606,1862:-0.18,0.00,172.59:-0.12,0.00,140.81:-0.06,0.00,31.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,51,52:72.0,19.8,36.4:0,0,0:0,0,0:90,60,41:61,87,106:0,26,28:-,NM_001017986.3(FCGR1B) c.*56G>A:-,NOT_FOUND:-,NOT_FOUND 1 120927418 . C . . NT END=120927646;NT GT ./. 1 120927866 . a . . NT END=120928129;NT GT ./. 1 120928616 . C . . NT END=120930038;NT GT ./. 1 120930294 . C . . NT END=120934380;NT GT ./. 1 120934636 . C . . NT END=120935447;NT GT ./. 1 120935469 . C . . NT END=120935863;NT GT ./. 1 120935661 rs56158134 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1450;PC=0.001;Gene=FCGR1B/NM_001004340.3/0;CC=c.31+203A>G;VC=Intron;Gene=FCGR1B/NM_001017986.3/1;CC=c.32-193A>G;VC=Intron;Gene=FCGR1B/NR_045213.1/0;VC=NonCoding;Gene=FCGR1B/NM_001244910.1/0;CC=c.32-193A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:6:0:0:7,17:217,523:18.76,0.00:6.09,0.00:12.67,0.00:0.97,0.00:0.85,0.00:0.99,0.00:43,60:87.7,6.5:0,0:0,0:72,111:77,39:54,35:NM_001017986.3(FCGR1B) c.32-193A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 120935895 . G . . NT END=143767353;NT GT ./. 1 121137961 . T C 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;PC=0.057;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:C,T:5:2:0:1:4,1:127,20:13.53,0.00:3.53,0.00:9.99,0.00:0.96,0.00:0.97,0.00:1.00,0.00:60,60:217.5,18.0:0,0:0,0:50,46:80,100:23,0:chr1 g.121137960T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121137970 . G A 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;PC=0.003;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,G:4:1:0:0:2,2:66,42:6.37,0.00:3.58,0.00:2.79,0.00:0.51,0.00:0.67,0.00:0.89,0.00:60,60:226.5,80.5:0,0:0,0:36,61:74,86:15,6:chr1 g.121137969G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138038 rs116277420 T C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:7:2:0:0:4,3:105,102:10.31,0.00:3.17,0.00:7.14,0.00:0.90,0.00:0.85,0.00:0.98,0.00:60,60:163.8,96.7:0,0:0,0:72,117:38,23:29,6:chr1 g.121138037T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138117 rs6663995 C T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;PC=0.006;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:6:1:0:0:2,4:45,110:0.00,11.23:0.00,1.85:0.00,9.38:0.00,0.93:0.00,0.78:0.00,0.93:60,60:51.5,114.2:1,0:0,0:75,28:71,70:32,23:-,chr1 g.121138116C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138180 rs587766584 A G 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.004;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,C,G:12:3:0:0:6,2,4:124,23,117:0.00,1.27,10.65:0.00,-0.04,3.51:0.00,1.31,7.13:0.00,0.00,0.80:0.00,0.00,0.73:0.00,0.00,0.80:60,60,49:69.0,110.5,161.0:0,1,3:0,0,0:50,15,35:70,118,89:19,11,15:-,chr1 g.121138179A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138214 rs1687151 A C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=55;PC=0.166;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:A,C:20:6:0:0:14,6:368,168:0.00,14.37:0.00,3.17:0.00,11.19:0.00,0.94:0.00,0.86:0.00,1.00:60,47:109.4,140.0:0,0:0,0:57,43:85,78:28,13:-,chr1 g.121138213A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138257 rs112404589 T A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=170;PC=0.007;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:19:4:0:0:8,1,10:214,10,282:19.83,0.14,0.00:3.05,-0.04,0.00:16.78,0.18,0.00:0.99,0.00,0.00:0.89,0.00,0.00:1.00,0.00,0.00:60,24,60:135.9,175.0,90.7:0,0,1:0,0,0:77,98,88:35,43,44:10,0,18:chr1 g.121138256T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138267 rs371972192 A C 15 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:A,C:17:3:0:0:12,5:310,166:0.00,14.52:0.00,-0.30:0.00,14.82:0.00,0.88:0.00,0.68:0.00,0.99:60,46:122.5,134.2:0,5:0,0:92,91:40,26:14,8:-,chr1 g.121138266A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138270 . C T 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;PC=0.097;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:18:4:0:0:15,3:455,91:0.00,7.01:0.00,-0.20:0.00,7.21:0.00,0.52:0.00,0.53:0.00,0.91:60,46:111.5,136.3:1,3:0,0:97,85:43,23:15,0:-,chr1 g.121138269C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138291 . C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;NP=344;PC=0.560;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:18:6:0:0:15,3:455,94:0.00,7.31:0.00,1.36:0.00,5.95:0.00,0.52:0.00,0.64:0.00,0.91:60,60:112.7,139.0:0,0:0,0:106,137:22,12:12,6:-,chr1 g.121138290C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138296 rs72469600 C T 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:14:5:0:0:4,10:114,333:0.00,34.44:0.00,4.98:0.00,29.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:117.2,119.1:0,0:0,0:92,121:41,18:25,15:-,chr1 g.121138295C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138322 . T C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;PC=0.031;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:7:4:0:1:3,4:99,137:9.26,0.00:1.15,0.00:8.11,0.00:0.69,0.00:0.89,0.00:0.93,0.00:60,60:116.0,92.0:0,0:0,0:46,78:37,41:12,39:chr1 g.121138321T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138362 rs76216147 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;PC=0.124;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,G:4:2:0:0:2,2:46,68:0.00,6.56:0.00,-0.60:0.00,7.15:0.00,0.51:0.00,0.79:0.00,0.79:60,60:62.5,119.5:0,0:0,0:99,77:48,66:39,48:-,chr1 g.121138361A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138502 rs61807589 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.015;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:8:5:0:0:4,4:115,124:0.00,11.91:0.00,6.25:0.00,5.66:0.00,0.87:0.00,0.96:0.00,0.96:58,43:47.8,61.0:1,0:0,0:63,90:81,48:16,12:-,chr1 g.121138501A>G (intergenic):-,0.22:-,NOT_FOUND 1 121138715 rs115161811 G A 19 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=435;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:28:23:0:0:7,21:224,570:18.95,0.00:18.25,0.00:0.70,0.00:0.96,0.00:0.99,0.00:0.93,0.00:60,60:101.9,20.9:0,0:0,0:17,64:128,87:11,33:chr1 g.121138714G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138753 rs114317647 A G 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9922,G/0.007788;NP=607;PC=0.001;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:32:26:0:0:22,9,1:643,247,8:0.00,20.85,-0.13:0.00,15.45,-0.03:0.00,5.41,-0.11:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,7:14.3,124.4,119.0:0,2,1:0,0,0:62,31,52:89,107,68:27,15,0:-,chr1 g.121138752A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138778 rs61807590 A G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:40:30:0:0:34,6:1090,167:0.00,12.24:0.00,10.01:0.00,2.23:0.00,0.88:0.00,0.97:0.00,0.92:60,45:38.0,226.5:0,0:0,0:60,35:85,108:31,21:-,chr1 g.121138777A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138792 rs61807591 A G 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=509;PC=0.001;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:36:0:1:28,19:912,558:0.00,51.02:0.00,29.76:0.00,21.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,184.6:0,0:0,0:67,43:77,102:39,28:-,chr1 g.121138791A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138793 . G A 14 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;PC=0.010;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:46:35:0:1:6,40:188,1226:13.94,0.00:12.25,0.00:1.69,0.00:0.86,0.00:0.97,0.00:0.91,0.00:40,60:248.2,57.1:0,0:0,0:31,62:115,77:20,33:chr1 g.121138792G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138798 rs201130854 G A 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T,I:50:39:1:0:11,37,1,1:380,1065,11,26:32.08,0.00,-0.10,1.07:23.81,0.00,0.05,1.22:8.27,0.00,-0.15,-0.15:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:56,60,60,45:220.4,40.8,11.0,129.0:0,0,0,1:0,0,0,0:23,54,118,63:100,86,33,86:16,34,0,0:chr1 g.121138797G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138845 rs140987676 C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=5;PC=0.002;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:55:34:0:0:47,8:1448,266:0.00,20.53:0.00,5.25:0.00,15.28:0.00,0.96:0.00,0.98:0.00,0.99:60,49:97.3,142.1:0,0:0,0:62,97:83,52:23,28:-,chr1 g.121138844C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138871 . C T 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:26:0:0:40,12:1262,409:0.00,34.44:0.00,16.20:0.00,18.25:0.00,1.00:0.00,0.91:0.00,1.00:60,56:77.5,205.5:0,0:0,0:83,83:67,58:20,10:-,chr1 g.121138870C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138882 rs77721662 A G 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=0.025;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:22:0:0:35,15:1086,479:0.00,41.79:0.00,16.62:0.00,25.17:0.00,1.00:0.00,1.00:0.00,1.00:60,56:66.7,204.5:0,0:0,0:97,85:54,61:22,9:-,chr1 g.121138881A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138886 rs116445997 T C 69 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=555;PC=0.004;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:48:20:0:0:4,22,22:138,722,699:10.56,69.38,0.00:5.49,17.24,0.00:5.07,52.14,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,52,60:245.8,186.5,6.5:0,0,0:0,0,0:113,93,91:30,56,59:17,14,23:chr1 g.121138885T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138896 . C T 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;PC=0.006;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:20:0:0:37,9:1102,297:0.00,24.13:0.00,3.43:0.00,20.70:0.00,0.98:0.00,0.96:0.00,1.00:60,50:92.4,207.1:0,0:0,0:101,106:47,45:15,12:-,chr1 g.121138895C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138899 . C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;PC=0.015;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,G,T:48:22:0:0:41,2,5:1198,67,171:0.00,4.15,12.63:0.00,-0.27,7.05:0.00,4.42,5.59:0.00,0.00,0.73:0.00,0.00,0.82:0.00,0.00,0.94:60,12,41:85.8,220.5,265.2:10,0,0:0,0,0:108,92,93:42,45,54:16,4,5:-,chr1 g.121138898C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138902 . C T 27 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;PC=0.133;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:22:0:0:38,10:1153,329:0.00,27.01:0.00,10.17:0.00,16.84:0.00,0.99:0.00,0.98:0.00,1.00:60,52:78.8,198.9:0,10:0,0:105,109:42,38:19,7:-,chr1 g.121138901C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138903 . GC G 9 nt VT=DEL;SST=Single;DP=48;PC=0.158;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:GC,G:48:23:0:10:38,10:1221,150:0.00,9.38:0.00,3.28:0.00,6.10:0.00,0.99:0.00,0.98:0.00,1.00:60,52:76.1,207.5:0,0:0,0:97,114:53,30:26,7:-,chr1 g.121138904delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138907 . C G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;NP=1;PC=0.667;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,G:47:22:0:0:43,4:1262,131:0.00,9.08:0.00,3.35:0.00,5.73:0.00,0.56:0.00,0.74:0.00,0.87:60,50:91.2,264.8:10,0:0,0:109,108:37,42:19,10:-,chr1 g.121138906C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121138908 rs150219554 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.520;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:A,C,G:48:23:0:0:4,1,43:141,8,1229:10.08,-0.27,0.00:-0.68,-0.17,0.00:10.77,-0.11,0.00:0.55,0.00,0.00:0.75,0.00,0.00:0.86,0.00,0.00:21,2,60:159.2,198.0,91.7:0,0,10:0,0,0:123,97,102:27,36,45:6,0,20:chr1 g.121138907G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138915 rs72469601 T C 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.055;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:22:0:0:13,34:441,1086:38.27,0.00:14.27,0.00:24.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:207.8,65.4:0,0:0,0:117,109:29,41:8,25:chr1 g.121138914T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121138944 rs144116893 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.209;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:32:12:0:0:7,25:189,665:14.98,0.00:2.30,0.00:12.68,0.00:0.95,0.00:0.91,0.00:0.98,0.00:50,60:229.3,20.7:0,0:0,0:133,95:9,56:5,43:chr1 g.121138943T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121139116 . G C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;PC=0.995;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,G:29:14:0:0:3,26:98,812:7.05,0.00:-0.57,0.00:7.61,0.00:0.43,0.00:0.69,0.00:0.78,0.00:25,57:175.0,16.4:0,0:0,0:130,78:21,73:13,44:chr1 g.121139115G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121139128 rs4058171 T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=6;PC=1.000;Gene=SRGAP2-AS1/NR_104189.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:C,T:28:14:0:0:3,25:97,776:7.00,0.00:-0.56,0.00:7.56,0.00:0.44,0.00:0.71,0.00:0.79,0.00:25,57:118.3,15.2:0,0:0,0:107,85:37,66:11,50:chr1 g.121139127T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121204512 rs34306831 G GACAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5371,GAC/0.4629,GACAC/.;DB;DBA=NA;PAF=G/0.5371,GAC/0.4629,GACAC/.;NP=155;NP=62;PC=0.031;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,GACAC:3:1:3:0:1,2:30,98:0.00,6.75:0.00,-0.30:0.00,7.05:0.00,0.51:0.00,0.67:0.00,0.89:60,60:77.0,0.0:0,1:0,0:51,62:84,88:0,24:-,chr1 g.121204512_121204513insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121273510 rs6600747 T C 9 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4655,C/0.5345;Gene=EMBP1/NR_003955.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:5:3:0:0:4,1:83,33:8.95,0.00:6.96,0.00:1.98,0.00:0.96,0.00:0.99,0.00:0.97,0.00:60,54:55.0,11.0:0,0:0,0:19,75:129,74:2,0:NR_003955.1(EMBP1) n.348+12253T>C,-:0.6,-:NOT_FOUND,- 1 121273674 . G GT 11 rn VT=INS;SST=Single;DP=9;NP=413;PC=0.009;Gene=EMBP1/NR_003955.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:G,GT:9:8:4:0:5,4:172,120:0.00,11.22:0.00,11.61:0.00,-0.38:0.00,0.85:0.00,0.98:0.00,0.74:60,60:28.6,9.5:1,0:0,0:52,59:99,91:19,13:-,NR_003955.1(EMBP1) n.348+12417_348+12418insT:-,0.28:-,NOT_FOUND 1 121273809 . A AT 18 sb;idl,rn VT=INS;SST=Single;DP=14;NP=2;NP=3;NP=48;NP=96;PC=0.009;Gene=EMBP1/NR_003955.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,AT:12:5:8:0:6,6:182,254:0.00,17.90:0.00,1.39:0.00,16.51:0.00,0.96:0.00,0.93:0.00,1.00:60,60:9.5,20.7:0,2:0,0:135,91:10,43:9,35:-,NR_003955.1(EMBP1) n.348+12552_348+12553insT:-,NOT_FOUND:-,NOT_FOUND 1 121352347 rs113595953 G A 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=44 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:13:0:0:10,6:342,205:34.37,0.00:13.98,0.00:20.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,40:178.2,210.0:0,0:0,0:24,27:77,83:1,9:chr1 g.121352346G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121352349 rs200648092 T C 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=55 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:16:13:0:0:3,13:104,410:8.48,0.00:4.37,0.00:4.11,0.00:0.54,0.00:0.88,0.00:0.54,0.00:40,59:239.0,177.5:0,0:0,0:20,27:92,75:1,3:chr1 g.121352348T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121352351 . C T 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T:16:13:0:0:13,3:442,104:0.00,8.48:0.00,4.37:0.00,4.10:0.00,0.54:0.00,0.88:0.00,0.54:59,40:177.4,239.0:0,0:0,0:29,22:73,90:3,1:-,chr1 g.121352350C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121352367 rs201336283 G C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,G:17:13:0:0:3,14:106,462:8.59,0.00:4.46,0.00:4.13,0.00:0.53,0.00:0.86,0.00:0.53,0.00:40,59:233.3,173.9:0,0:0,0:38,44:74,57:1,2:chr1 g.121352366G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121352370 rs202237542 T C 9 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=49 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:17:13:0:0:4,13:115,443:9.38,0.00:0.98,0.00:8.41,0.00:0.74,0.00:0.94,0.00:0.74,0.00:59,42:185.2,182.9:0,0:0,0:56,47:81,54:32,2:chr1 g.121352369T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121352376 rs4874671 A G 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:13:0:0:7,10:231,352:0.00,34.97:0.00,16.19:0.00,18.78:0.00,1.00:0.00,1.00:0.00,1.00:59,42:208.3,169.5:0,0:0,0:47,53:65,48:15,1:-,chr1 g.121352375A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121352378 rs76871476 A T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,T:17:13:0:0:14,3:468,101:0.00,8.09:0.00,4.21:0.00,3.88:0.00,0.53:0.00,0.86:0.00,0.53:59,40:173.6,239.0:0,0:0,0:55,49:46,63:2,1:-,chr1 g.121352377A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121352383 . T G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:G,T:17:13:0:0:5,12:167,410:14.61,0.00:5.91,0.00:8.70,0.00:0.88,0.00:0.97,0.00:0.88,0.00:59,54:198.0,177.8:0,0:0,0:60,60:41,47:1,8:chr1 g.121352382T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121352388 rs28820600 T C,G 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=27;NP=82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:186:C,G,T:17:13:0:0:6,10,1:201,349,35:20.06,36.98,0.00:7.05,16.91,0.00:13.01,20.07,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:55,42,59:194.5,163.4,291.0:0,0,0:0,0,0:58,65,108:54,36,43:15,1,0:chr1 g.121352387T>C (intergenic),chr1 g.121352387T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121352397 rs201199175 T G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:G,T:17:13:0:0:3,14:105,475:8.49,0.00:2.76,0.00:5.73,0.00:0.53,0.00:0.86,0.00:0.53,0.00:40,59:174.7,185.8:0,0:0,0:90,73:14,28:18,4:chr1 g.121352396T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121352403 rs77500954 C T 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:13:0:0:7,10:241,349:0.00,34.67:0.00,16.14:0.00,18.53:0.00,1.00:0.00,1.00:0.00,1.00:59,42:206.0,164.3:0,0:0,0:74,80:41,21:15,1:-,chr1 g.121352402C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121352429 rs75663461 G A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:7:4:0:0:3,4:100,137:9.36,0.00:5.04,0.00:4.31,0.00:0.69,0.00:0.89,0.00:0.69,0.00:40,59:236.3,185.5:0,0:0,0:100,110:12,29:1,32:chr1 g.121352428G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121352436 rs201948131 A G 6 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:2:0:0:3,2:98,70:0.00,6.49:0.00,3.58:0.00,2.91:0.00,0.46:0.00,0.70:0.00,0.46:54,40:150.3,239.0:0,0:0,0:92,106:36,6:21,0:-,chr1 g.121352435A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121354147 rs74521475 T G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:204:23.26:11.63:11.63:1.00:1.00:1.00:40:190.8:0:0:22:128:5:chr1 g.121354146T>G (intergenic),chr1 g.121354146T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354167 rs75541750 T G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:G,T:7:5:0:0:3,4:95,110:8.86,0.00:2.18,0.00:6.68,0.00:0.69,0.00:0.93,0.00:0.89,0.00:30,40:200.3,188.5:0,0:0,0:47,32:104,113:0,15:chr1 g.121354166T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354177 rs370048426 TCA T 12 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:3:0:6:5:99:12.20:6.46:5.75:1.00:1.00:1.00:40:200.4:0:0:48:102:9:chr1 g.121354178_121354179delCA (intergenic),chr1 g.121354178_121354179delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354184 rs79592900 T G 23 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:4:0:0:7:195:22.81:13.50:9.30:1.00:1.00:1.00:60:202.9:7:0:52:97:10:chr1 g.121354183T>G (intergenic),chr1 g.121354183T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354190 rs75018306 T G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:G,T:7:4:0:0:6,1:183,33:19.89,0.00:8.68,0.00:11.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,40:212.2,191.0:0,1:0,0:42,52:108,87:21,0:chr1 g.121354189T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354193 rs77044370 A G,T 24 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:20:G,T:8:4:0:1:1,7:35,215:3.07,24.43:1.54,9.00:1.54,15.43:0.00,1.00:0.00,1.00:0.00,1.00:41,60:100.0,219.4:0,0:0,0:2,30:88,121:0,29:chr1 g.121354192A>G (intergenic),chr1 g.121354192A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354212 rs547138690 C T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,T:11:7:0:0:8,3:258,81:0.00,6.73:0.00,5.64:0.00,1.09:0.00,0.60:0.00,0.86:0.00,0.83:60,41:214.6,167.3:0,0:0,0:29,49:121,69:20,21:-,chr1 g.121354211C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121354239 rs79790528 A C 15 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=45 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,C:12:8:0:0:7,5:242,161:0.00,14.95:0.00,16.11:0.00,-1.17:0.00,0.92:0.00,0.98:0.00,0.95:41,60:195.0,213.6:0,0:0,0:76,44:44,91:29,16:-,chr1 g.121354238A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121354259 rs75710967 T C 16 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:C,T:15:11:0:0:5,10:173,329:15.54,0.00:16.60,0.00:-1.06,0.00:0.89,0.00:0.98,0.00:0.94,0.00:60,41:223.0,187.1:0,0:0,0:48,84:86,39:16,38:chr1 g.121354258T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354288 rs61807430 A C 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=437 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:10:0:0:13:452:51.40:29.78:21.62:1.00:1.00:1.00:47:233.8:0:0:31:79:14:chr1 g.121354287A>C (intergenic),chr1 g.121354287A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354300 rs201174933 T C 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,T:14:11:0:0:9,5:301,165:30.43,0.00:18.85,0.00:11.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,47:238.2,219.6:0,0:0,0:29,50:111,42:2,39:chr1 g.121354299T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354305 rs76413979 T A 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,T:15:12:0:0:12,3:404,98:42.86,0.00:20.58,0.00:22.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,47:234.8,188.3:0,0:0,0:34,48:100,62:14,7:chr1 g.121354304T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354357 rs78783065 A T 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=143 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,C,G,T:17:13:0:0:3,1,1,12:76,36,35,327:0.00,2.77,2.67,34.93:0.00,1.36,-0.07,16.63:0.00,1.41,2.74,18.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:47,41,50,53:188.0,275.0,261.0,229.2:2,0,0,0:0,0,0,0:55,86,62,52:86,64,88,64:21,0,0,22:-,chr1 g.121354356A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121354363 rs79878007 T G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:16:11:0:0:1,7,8:28,245,237:1.85,23.33,0.00:1.92,4.11,0.00:-0.07,19.23,0.00:0.00,0.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:47,53,53:220.0,251.1,227.0:0,0,0:0,0,0:106,90,56:4,58,81:0,22,26:chr1 g.121354362T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354383 rs61807433 T C 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:14:9:0:0:12,2:406,70:43.83,0.00:13.92,0.00:29.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,40:240.1,193.0:0,0:0,0:86,42:40,99:21,8:chr1 g.121354382T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354393 . T A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,T:15:10:0:0:3,12:99,396:8.07,0.00:1.11,0.00:6.97,0.00:0.55,0.00:0.85,0.00:0.90,0.00:44,53:282.7,226.9:0,0:0,0:122,86:28,51:0,16:chr1 g.121354392T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354408 rs150190581 A G 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,G:14:7:0:0:2,12:64,373:0.00,40.48:0.00,13.08:0.00,27.39:0.00,1.00:0.00,1.00:0.00,1.00:53,53:204.0,243.2:0,0:0,0:95,111:33,26:2,26:-,chr1 g.121354407A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121354434 rs61807434 T A,G 22 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:23:A,G:7:4:0:0:6,1:199,35:22.36,3.13:7.52,1.57:14.84,1.57:1.00,0.00:1.00,0.00:1.00,0.00:53,40:234.5,200.0:0,0:0,0:117,110:32,10:17,0:chr1 g.121354433T>A (intergenic),chr1 g.121354433T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354446 rs78037859 G C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:125:14.41:7.40:7.00:1.00:1.00:1.00:53:228.0:0:0:118:31:11:chr1 g.121354445G>C (intergenic),chr1 g.121354445G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354447 rs75928736 A G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:157:18.08:8.39:9.69:1.00:1.00:1.00:49:205.2:0:0:98:36:27:chr1 g.121354446A>G (intergenic),chr1 g.121354446A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354946 rs79194491 A C 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:174:20.25:20.25:0.00:1.00:1.00:0.00:40:193.5:0:0:13:134:3:chr1 g.121354945A>C (intergenic),chr1 g.121354945A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121354953 rs200330480 A G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:7:6:0:0:4,3:119,98:0.00,9.16:0.00,6.05:0.00,3.11:0.00,0.69:0.00,0.95:0.00,0.62:40,40:153.2,258.7:0,0:0,0:39,15:96,136:19,4:-,chr1 g.121354952A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121354954 rs201416487 T G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:G,T:7:6:0:0:3,4:96,131:8.96,0.00:5.75,0.00:3.21,0.00:0.69,0.00:0.95,0.00:0.62,0.00:40,40:258.7,153.2:0,0:0,0:16,40:135,95:4,19:chr1 g.121354953T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121354973 rs61807454 C A 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=122 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:A,C:12:12:0:0:11,1:357,36:39.45,0.00:29.85,0.00:9.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:184.3,168.0:0,0:0,0:35,41:114,107:18,0:chr1 g.121354972C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355015 rs112360446 A G 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=252 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:19:0:0:12,9:410,288:0.00,26.85:0.00,13.75:0.00,13.09:0.00,1.00:0.00,1.00:0.00,1.00:41,50:182.1,189.9:0,0:0,0:49,21:86,93:13,9:-,chr1 g.121355014A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355025 rs61807455 T C 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=215 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:19:0:0:11,9:390,294:38.27,0.00:22.61,0.00:15.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,50:175.6,191.2:0,0:0,0:69,31:65,99:18,9:chr1 g.121355024T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355049 rs113787037 A G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=226 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G,T:21:19:0:0:16,4,1:549,137,35:0.00,11.26,2.32:0.00,2.34,1.12:0.00,8.92,1.20:0.00,0.70,0.00:0.00,0.95,0.00:0.00,0.94,0.00:50,52,41:186.4,180.0,166.0:0,0,0:0,0,0:75,69,46:57,81,45:20,26,0:-,chr1 g.121355048A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355057 rs61807456 A G 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1;NP=922 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:21:19:0:0:9,11,1:293,387,34:0.00,37.96,2.37:0.00,22.94,1.19:0.00,15.02,1.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:58,41,41:202.8,156.6,171.0:0,0,0:0,0,0:63,98,54:80,41,37:21,16,0:-,chr1 g.121355056A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355062 rs61807457 C G 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=132 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:18:0:0:10,10:344,336:0.00,32.35:0.00,19.65:0.00,12.70:0.00,1.00:0.00,1.00:0.00,1.00:58,41:198.0,172.9:0,0:0,0:65,88:68,42:20,10:-,chr1 g.121355061C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355087 rs111734840 T A 101 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=260 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:18:0:0:28:881:101.44:51.22:50.22:1.00:1.00:1.00:58:210.9:0:0:103:36:28:chr1 g.121355086T>A (intergenic),chr1 g.121355086T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121355106 rs534466761 A C,G 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=94 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:A,C,G,T:22:13:0:0:1,18,2,1:34,569,70,18:0.00,63.17,5.83,0.95:0.00,26.43,4.36,0.95:0.00,36.74,1.47,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:1,58,50,12:134.0,224.5,196.0,284.0:0,0,0,0:0,0,0,0:128,108,55,42:1,41,78,108:0,34,38,0:chr1 g.121355105A>C (intergenic),chr1 g.121355105A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121355107 rs553122836 G C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,C,G:23:14:0:0:1,4,18:34,137,550:2.17,11.09,0.00:1.06,-0.86,0.00:1.11,11.95,0.00:0.00,0.69,0.00:0.00,0.88,0.00:0.00,0.89,0.00:50,31,58:259.0,221.0,219.6:0,0,0:0,0,0:94,132,48:39,18,102:0,3,26:chr1 g.121355106G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355111 rs201609469 A G 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G,T:22:13:0:0:18,3,1:559,106,9:0.00,8.29,-0.08:0.00,4.21,0.12:0.00,4.08,-0.20:0.00,0.48,0.00:0.00,0.78,0.00:0.00,0.80,0.00:53,58,9:210.9,290.7,254.0:0,0,0:0,0,0:64,58,111:80,93,39:56,5,0:-,chr1 g.121355110A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355112 . C G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,G:23:14:0:0:20,3:640,103:0.00,7.87:0.00,2.56:0.00,5.31:0.00,0.47:0.00,0.78:0.00,0.78:58,51:223.9,204.3:0,0:0,0:59,126:92,25:46,13:-,chr1 g.121355111C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355119 rs200694562 A G 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,C,G:25:14:0:0:21,1,3:666,6,104:0.00,-0.25,7.91:0.00,-0.18,2.55:0.00,-0.08,5.35:0.00,0.00,0.46:0.00,0.00,0.75:0.00,0.00,0.80:58,21,42:216.6,199.0,253.7:0,0,0:0,0,0:66,142,49:85,9,102:54,0,17:-,chr1 g.121355118A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355137 rs201930666 G A 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=111 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,G:24:17:0:0:22,2:693,69:76.77,0.00:46.54,0.00:30.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,31:200.6,256.0:1,0:0,0:39,82:95,68:30,59:chr1 g.121355136G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355152 rs61807458 A G 76 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=208 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,G:24:17:0:0:2,22:68,687:0.00,76.18:0.00,43.77:0.00,32.41:0.00,1.00:0.00,1.00:0.00,1.00:58,60:283.5,198.1:0,0:0,0:71,37:80,112:33,14:-,chr1 g.121355151A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355155 rs28800498 A C 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=114 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,C:25:18:0:0:19,6:640,197:0.00,16.58:0.00,6.43:0.00,10.15:0.00,0.92:0.00,0.98:0.00,0.97:58,60:200.9,206.2:0,0:0,0:43,59:106,91:17,37:-,chr1 g.121355154A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355164 rs368517832 T A 11 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,T:27:20:0:0:4,23:136,752:10.59,0.00:8.29,0.00:2.30,0.00:0.66,0.00:0.91,0.00:0.89,0.00:53,60:215.2,199.6:4,0:0,0:70,48:80,102:16,21:chr1 g.121355163T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355166 . TC T 8 nt VT=DEL;SST=Single;DP=26;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:TC,T:26:19:0:4:22,4:696,114:0.00,8.47:0.00,6.20:0.00,2.27:0.00,0.67:0.00,0.91:0.00,0.88:58,53:202.7,215.2:0,0:0,0:51,72:99,78:27,16:-,chr1 g.121355167delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355184 rs200985968 T C 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=127 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:19:0:0:13,13:453,401:43.70,0.00:26.09,0.00:17.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,60:185.5,206.6:0,0:0,0:55,70:96,81:17,25:chr1 g.121355183T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355224 rs201929997 A G 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=203 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:15:0:0:8,15:269,456:0.00,46.27:0.00,16.28:0.00,29.99:0.00,1.00:0.00,1.00:0.00,1.00:56,58:151.8,205.7:0,0:0,0:76,95:54,52:16,15:-,chr1 g.121355223A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355228 rs199849594 G T 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=155 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:13:0:0:12,9:367,256:0.00,23.65:0.00,6.13:0.00,17.52:0.00,1.00:0.00,1.00:0.00,1.00:60,58:172.8,189.2:0,0:0,0:99,99:49,52:18,13:-,chr1 g.121355227G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355234 rs575285813 A C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C:21:12:0:0:18,3:592,105:0.00,8.19:0.00,1.16:0.00,7.03:0.00,0.49:0.00,0.77:0.00,0.90:58,53:169.8,247.3:0,0:0,0:105,120:46,31:11,7:-,chr1 g.121355233A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355236 rs201909058 A G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:22:13:0:0:19,3:604,104:0.00,8.03:0.00,1.19:0.00,6.84:0.00,0.48:0.00,0.78:0.00,0.90:60,53:177.6,247.3:0,0:0,0:99,122:44,29:16,7:-,chr1 g.121355235A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355250 rs545819298 T G 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=480 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:G,T:21:11:0:0:4,17:139,550:11.37,0.00:2.75,0.00:8.62,0.00:0.70,0.00:0.85,0.00:0.96,0.00:56,58:140.5,199.6:0,0:0,0:109,121:28,26:14,15:chr1 g.121355249T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355289 rs61808660 C A 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:3:0:0:6:198:22.66:7.50:15.16:1.00:1.00:1.00:55:215.8:0:0:131:13:4:chr1 g.121355288C>A (intergenic),chr1 g.121355288C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121355295 rs79305531 G C 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:176:19.98:4.03:15.96:1.00:1.00:1.00:42:224.8:0:0:133:10:8:chr1 g.121355294G>C (intergenic),chr1 g.121355294G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121355296 rs541796663 T A 20 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:1:0:0:5:174:19.78:1.99:17.80:1.00:1.00:1.00:42:224.8:0:0:134:9:8:chr1 g.121355295T>A (intergenic),chr1 g.121355295T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121355736 rs77959751 T C 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=575 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:C,T:10:9:0:0:5,5:153,169:14.65,0.00:6.70,0.00:7.95,0.00:0.95,0.00:1.00,0.00:0.95,0.00:54,41:143.2,102.2:0,0:0,0:37,49:64,46:7,2:chr1 g.121355735T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355738 rs368122329 C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,T:10:9:0:0:6,4:209,115:0.00,10.46:0.00,4.75:0.00,5.70:0.00,0.84:0.00,0.98:0.00,0.84:41,54:108.2,144.8:0,0:0,0:50,39:46,50:3,3:-,chr1 g.121355737C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355754 rs63749107 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=213 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,G:10:9:0:0:5,5:165,177:15.87,0.00:6.70,0.00:9.17,0.00:0.95,0.00:1.00,0.00:0.95,0.00:54,41:141.6,100.0:0,0:0,0:55,67:46,28:7,2:chr1 g.121355753G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121355763 rs78865972 A G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=426 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,G:10:9:0:0:4,6:132,213:0.00,21.24:0.00,10.82:0.00,10.42:0.00,0.99:0.00,1.00:0.00,0.99:54,41:144.8,107.7:0,0:0,0:64,75:25,21:3,3:-,chr1 g.121355762A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355765 rs77769766 A T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=537 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,T:10:9:0:0:5,5:168,167:0.00,16.07:0.00,6.35:0.00,9.73:0.00,0.95:0.00,1.00:0.00,0.95:41,54:100.6,143.2:0,0:0,0:78,66:17,35:2,7:-,chr1 g.121355764A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121355790 rs201631300 C T 7 end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,T:5:4:0:0:3,2:103,72:0.00,6.69:0.00,3.46:0.00,3.24:0.00,0.46:0.00,0.87:0.00,0.46:46,28:135.3,136.5:0,0:0,0:81,102:16,-2:3,1:-,chr1 g.121355789C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121356081 . A C 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C:4:4:0:0:2,2:69,67:0.00,6.45:0.00,4.91:0.00,1.54:0.00,0.51:0.00,0.51:0.00,0.89:49,52:149.0,260.5:0,0:0,0:19,43:52,91:19,23:-,chr1 g.121356080A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121356105 . A G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:5:0:0:3,2:101,71:0.00,6.59:0.00,5.09:0.00,1.51:0.00,0.46:0.00,0.46:0.00,0.87:49,52:155.7,267.5:0,0:0,0:24,67:38,67:2,23:-,chr1 g.121356104A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121356119 rs74419104 A G 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:5:0:0:3,2:101,70:0.00,6.49:0.00,3.14:0.00,3.36:0.00,0.46:0.00,0.46:0.00,0.87:52,49:221.3,171.0:0,0:0,0:77,37:18,24:19,1:-,chr1 g.121356118A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121356129 rs76331682 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=138 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:4:0:0:2,2:67,72:0.00,6.95:0.00,3.32:0.00,3.63:0.00,0.51:0.00,0.51:0.00,0.89:52,49:267.5,171.0:0,0:0,0:91,47:43,14:23,1:-,chr1 g.121356128A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121356134 . A G 7 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:4:0:0:2,2:67,71:0.00,6.85:0.00,3.27:0.00,3.58:0.00,0.51:0.00,0.51:0.00,0.89:52,49:267.5,171.0:0,0:0,0:96,52:38,9:23,1:-,chr1 g.121356133A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121356273 rs61808673 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=46 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:122:14.10:3.88:10.23:1.00:1.00:1.00:50:200.5:0:0:64:75:4:chr1 g.121356272C>T (intergenic),chr1 g.121356272C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121356924 rs200343880 G A 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=121;NP=206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:115:13.37:5.72:7.66:1.00:1.00:1.00:41:197.5:0:0:18:119:12:chr1 g.121356923G>A (intergenic),chr1 g.121356923G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121356934 rs574345371 T C 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:2:0:0:2,2:67,67:6.45,0.00:3.53,0.00:2.92,0.00:0.51,0.00:0.79,0.00:0.51,0.00:41,40:243.0,146.5:0,0:0,0:14,40:111,109:2,1:chr1 g.121356933T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121356938 rs61803363 T C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=234 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:3:0:0:5:146:16.89:5.87:11.02:1.00:1.00:1.00:41:191.4:0:0:43:103:22:chr1 g.121356937T>C (intergenic),chr1 g.121356937T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121356949 . T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:5:3:0:0:2,3:71,64:6.61,0.00:3.52,0.00:3.09,0.00:0.46,0.00:0.80,0.00:0.46,0.00:41,40:236.5,153.3:0,0:0,0:25,57:96,92:1,3:chr1 g.121356948T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121356985 rs373550919 G C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G:4:3:0:0:2,2:71,69:6.85,0.00:3.58,0.00:3.27,0.00:0.51,0.00:0.89,0.00:0.51,0.00:41,40:231.0,146.5:0,0:0,0:61,91:60,58:1,1:chr1 g.121356984G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121357778 rs61803378 G C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,G:5:5:0:0:4,1:131,34:13.92,0.00:8.75,0.00:5.17,0.00:0.96,0.00:0.96,0.00:1.00,0.00:40,15:123.5,168.0:0,0:0,0:8,46:135,95:4,0:chr1 g.121357777G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121357841 rs61803379 C A 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=310 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:A,C:13:12:0:0:12,1:381,36:42.29,0.00:31.92,0.00:10.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,56:131.9,0.0:0,0:0,0:48,4:98,76:23,0:chr1 g.121357840C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121357867 rs61803380 A G 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=436 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G:19:18:0:0:3,16:91,544:0.00,58.44:0.00,52.18:0.00,6.26:0.00,1.00:0.00,1.00:0.00,1.00:56,40:102.3,116.3:0,0:0,0:55,38:50,110:25,29:-,chr1 g.121357866A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121357923 rs138713507 C G 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=174;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,G:20:20:0:0:17,3:583,108:0.00,8.56:0.00,3.89:0.00,4.67:0.00,0.50:0.00,0.50:0.00,0.71:57,50:97.1,105.0:0,0:0,0:80,18:70,112:27,3:-,chr1 g.121357922C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121357935 rs201337008 G A 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=311 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:11,13:380,386:36.08,0.00:22.30,0.00:13.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,53:106.5,73.5:0,0:0,0:77,65:72,82:21,36:chr1 g.121357934G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121357939 rs4844983 A G 89 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=875 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:23:0:0:23:780:88.97:64.86:24.11:1.00:1.00:1.00:57:79.2:0:0:52:89:29:chr1 g.121357938A>G (intergenic),chr1 g.121357938A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358100 rs36027768 A C 71 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=2;NP=475 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C,G:21:10:0:0:20,1:616,36:70.69,2.76:22.83,1.38:47.86,1.38:1.00,0.00:1.00,0.00:1.00,0.00:55,50:90.5,36.0:0,0:0,0:103,130:37,20:20,0:chr1 g.121358099A>C (intergenic),chr1 g.121358099A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358137 rs61803381 G T 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=76 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:4:0:0:14:435:50.13:11.28:38.85:1.00:1.00:1.00:43:138.6:0:0:131:19:13:chr1 g.121358136G>T (intergenic),chr1 g.121358136G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358141 rs61803382 A G 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=58 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:4:0:0:13:440:50.20:11.03:39.17:1.00:1.00:1.00:42:139.9:0:0:135:16:12:chr1 g.121358140A>G (intergenic),chr1 g.121358140A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358157 rs61803383 A C 25 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=67 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:1:0:0:7:215:24.71:1.99:22.72:1.00:1.00:1.00:42:166.6:0:0:126:19:6:chr1 g.121358156A>C (intergenic),chr1 g.121358156A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358451 rs61803391 T A 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:169:19.28:7.65:11.63:1.00:1.00:1.00:52:167.2:0:0:23:122:6:chr1 g.121358450T>A (intergenic),chr1 g.121358450T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358454 rs61803392 C A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:0:6:170:19.80:7.35:12.45:1.00:1.00:1.00:50:192.2:0:0:29:118:14:chr1 g.121358453C>A (intergenic),chr1 g.121358453C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358473 rs61803393 A T 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=467 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:5:0:0:8:272:31.02:9.69:21.32:1.00:1.00:1.00:57:150.4:0:0:39:93:23:chr1 g.121358472A>T (intergenic),chr1 g.121358472A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121358497 rs61803394 A G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=773 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:9:6:0:0:4,5:126,177:0.00,17.40:0.00,9.23:0.00,8.17:0.00,0.96:0.00,0.99:0.00,0.96:37,57:153.0,170.0:0,0:0,0:50,69:80,64:9,18:-,chr1 g.121358496A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121358956 rs61803406 C A 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:40:123.2:0:0:25:126:13:chr1 g.121358955C>A (intergenic),chr1 g.121358955C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121359006 rs79051214 T C 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=511 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:267:30.52:15.26:15.26:1.00:1.00:1.00:40:101.0:0:0:47:89:16:chr1 g.121359005T>C (intergenic),chr1 g.121359005T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121359091 rs200842762 T A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=95 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,T:7:4:0:0:3,4:100,132:9.36,0.00:3.22,0.00:6.14,0.00:0.69,0.00:0.89,0.00:0.69,0.00:40,40:126.7,77.8:0,0:0,0:86,92:37,58:1,3:chr1 g.121359090T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121359093 rs552975747 T G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=110 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:G,T:7:4:0:0:3,4:100,138:9.36,0.00:1.39,0.00:7.96,0.00:0.69,0.00:0.89,0.00:0.69,0.00:37,40:65.3,128.2:0,0:0,0:116,92:34,45:10,4:chr1 g.121359092T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121359097 rs61803407 A C 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=354 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,C:7:4:0:0:3,4:100,140:0.00,13.83:0.00,5.42:0.00,8.42:0.00,0.90:0.00,0.97:0.00,0.90:37,40:58.3,104.8:0,0:0,0:97,109:53,26:4,17:-,chr1 g.121359096A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121359845 rs541809942 A C 14 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=531 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:5:5:0:0:1,4:32,128:0.00,13.62:0.00,13.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:38,45:270.0,101.2:0,0:0,0:3,6:148,144:0,2:-,chr1 g.121359844A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121359896 rs552481315 C G 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=218 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:344:39.17:37.13:2.04:1.00:1.00:1.00:45:143.3:0:0:49:101:11:chr1 g.121359895C>G (intergenic),chr1 g.121359895C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121359991 rs12752958 C T 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:8:0:0:10:334:38.17:24.50:13.67:1.00:1.00:1.00:42:194.8:0:0:74:76:43:chr1 g.121359990C>T (intergenic),chr1 g.121359990C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121359996 rs112764361 C T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:11:8:0:0:8,3:231,99:0.00,8.54:0.00,5.72:0.00,2.81:0.00,0.60:0.00,0.89:0.00,0.86:42,40:171.5,248.3:0,0:0,0:100,37:51,95:37,16:-,chr1 g.121359995C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121360003 rs61803455 G T 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:8:0:0:12:365:42.18:19.36:22.81:1.00:1.00:1.00:42:188.2:0:0:52:85:28:chr1 g.121360002G>T (intergenic),chr1 g.121360002G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121360007 rs61803456 A G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=219 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,G:12:9:0:0:4,8:121,253:0.00,25.78:0.00,13.04:0.00,12.74:0.00,1.00:0.00,0.99:0.00,1.00:40,39:219.5,177.6:0,0:0,0:44,57:83,92:12,49:-,chr1 g.121360006A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121360023 rs61803457 A C 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=59 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:20:13:0:0:8,12:244,360:0.00,35.86:0.00,14.79:0.00,21.07:0.00,1.00:0.00,1.00:0.00,1.00:53,40:204.4,128.2:0,0:0,0:27,14:101,136:24,8:-,chr1 g.121360022A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121360035 rs142099885 C T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=114 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:14:0:0:14,7:449,231:0.00,20.64:0.00,17.03:0.00,3.60:0.00,0.97:0.00,0.99:0.00,0.99:40,53:135.9,233.6:0,0:0,0:32,43:115,70:15,27:-,chr1 g.121360034C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121360043 rs9651248 A C 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=173 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:15:0:0:9,14:294,479:0.00,47.89:0.00,19.93:0.00,27.96:0.00,1.00:0.00,1.00:0.00,1.00:53,41:199.7,118.1:0,0:0,0:35,28:115,122:14,10:-,chr1 g.121360042A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121360064 rs143984751 A C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=83 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C:27:16:0:0:23,4:742,142:0.00,11.19:0.00,5.87:0.00,5.32:0.00,0.66:0.00,0.86:0.00,0.94:53,41:128.7,236.0:0,0:0,0:49,57:101,67:15,26:-,chr1 g.121360063A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121360116 rs564410311 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:C,T:20:12:0:0:5,15:152,480:12.71,0.00:5.17,0.00:7.54,0.00:0.85,0.00:0.59,0.00:0.98,0.00:41,41:211.6,90.4:0,0:0,0:80,91:70,54:14,15:chr1 g.121360115T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121360123 rs9700333 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:19:11:0:0:4,15:132,500:10.86,0.00:4.19,0.00:6.68,0.00:0.72,0.00:0.88,0.00:0.95,0.00:41,53:195.0,88.0:0,0:0,0:82,105:63,45:12,10:chr1 g.121360122G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121360145 rs145547378 T A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,T:20:12:0:0:3,17:95,537:7.26,0.00:2.35,0.00:4.92,0.00:0.50,0.00:0.79,0.00:0.88,0.00:41,53:227.3,111.1:0,0:0,0:124,126:26,25:1,11:chr1 g.121360144T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121360190 rs61803458 A C,T 11 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:C,T:4:0:0:0:1,3:33,99:3.18,10.96:0.00,0.00:3.18,10.96:0.00,0.85:0.00,0.00:0.00,0.85:41,40:262.0,153.3:0,0:0,0:146,130:5,21:0,3:chr1 g.121360189A>C (intergenic),chr1 g.121360189A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121362673 rs79885869 G T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=271 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,T:5:4:0:0:2,3:68,103:0.00,10.27:0.00,6.96:0.00,3.31:0.00,0.78:0.00,0.97:0.00,0.94:40,39:49.0,161.7:0,0:0,0:79,78:72,73:0,1:-,chr1 g.121362672G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121362677 rs201891440 A G 6 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=180 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:4:0:0:3,2:100,70:0.00,6.49:0.00,4.99:0.00,1.51:0.00,0.46:0.00,0.87:0.00,0.80:40,15:104.3,151.5:0,0:0,0:83,80:68,70:0,1:-,chr1 g.121362676A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121362713 rs143781998 A C 7 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=78 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,C:5:3:0:0:3,2:99,71:0.00,6.59:0.00,3.35:0.00,3.25:0.00,0.46:0.00,0.80:0.00,0.80:40,15:104.3,151.5:0,0:0,0:119,116:32,34:0,1:-,chr1 g.121362712A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121386302 rs79561493 C G 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,G:6:3:0:0:1,5:9,166:0.00,17.90:0.00,7.90:0.00,10.01:0.00,0.99:0.00,1.00:0.00,1.00:54,33:113.0,117.0:0,0:0,0:65,40:46,111:0,11:chr1 g.121386301C>G (intergenic),chr1 g.121386301C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121386338 rs113818964 A C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=814 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,C:6:3:0:0:1,5:34,174:0.00,18.61:0.00,8.00:0.00,10.61:0.00,0.99:0.00,1.00:0.00,1.00:1,54:106.0,120.2:0,0:0,0:87,68:64,83:0,15:-,chr1 g.121386337A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121386369 rs61805661 A T 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=482 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,T:6:3:0:0:1,5:10,167:0.00,17.98:0.00,5.75:0.00,12.24:0.00,0.99:0.00,1.00:0.00,0.99:54,33:113.0,123.6:0,0:0,0:132,107:-21,44:0,18:chr1 g.121386368A>T (intergenic),chr1 g.121386368A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121426755 rs200704999 T C 7 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:C,T:4:4:0:0:2,2:68,42:6.57,0.00:6.57,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:18,18:101.5,208.0:0,0:0,0:28,12:122,116:7,1:chr1 g.121426754T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121426833 rs61804772 G A 11 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,G:4:4:0:0:3,1:102,8:10.73,0.00:10.73,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:18,16:160.7,137.0:0,0:0,0:99,91:52,15:10,0:chr1 g.121426832G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121478430 rs144342781 A T 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5653,T/0.4347;NP=873 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:11:0:0:13:415:47.64:28.36:19.28:1.00:1.00:1.00:53:86.2:0:0:67:67:11:chr1 g.121478429A>T (intergenic),chr1 g.121478429A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121478480 rs76141206 T G 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7955,G/0.2045 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:10:0:0:12:386:44.32:26.97:17.35:1.00:1.00:1.00:53:96.2:0:0:113:19:14:chr1 g.121478479T>G (intergenic),chr1 g.121478479T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121478570 rs61372375 A C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=404 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:3:0:0:6:207:23.56:11.53:12.03:1.00:1.00:1.00:40:102.2:0:0:30:121:10:chr1 g.121478569A>C (intergenic),chr1 g.121478569A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121478606 rs28848263 A G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=781 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:6:0:0:9:293:33.58:17.97:15.61:1.00:1.00:1.00:44:92.0:0:0:52:86:23:chr1 g.121478605A>G (intergenic),chr1 g.121478605A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121478713 rs28769997 C G 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=757 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:9:0:0:10:344:39.17:27.44:11.73:1.00:1.00:1.00:43:98.4:0:0:88:46:19:chr1 g.121478712C>G (intergenic),chr1 g.121478712C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121478766 rs28804449 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=294 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:143:16.68:16.68:0.00:1.00:1.00:0.00:48:167.4:0:0:64:82:34:chr1 g.121478765C>T (intergenic),chr1 g.121478765C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121478785 rs200955058 T G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:G,T:8:7:0:0:3,5:98,154:8.94,0.00:5.79,0.00:3.15,0.00:0.67,0.00:0.95,0.00:0.78,0.00:48,40:265.7,147.0:0,0:0,0:8,83:127,63:6,54:chr1 g.121478784T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121478800 rs79225027 T G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:5:0:0:7:221:25.44:15.01:10.43:1.00:1.00:1.00:48:219.7:0:0:38:105:26:chr1 g.121478799T>G (intergenic),chr1 g.121478799T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121478806 rs111540622 T G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:G,T:9:7:0:0:5,4:179,102:17.64,0.00:12.62,0.00:5.02,0.00:0.96,0.00:0.99,0.00:0.98,0.00:48,40:259.0,148.2:0,0:0,0:29,25:106,121:13,20:chr1 g.121478805T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121478809 rs75691716 A T 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,T:8:6:0:0:4,4:127,136:0.00,13.10:0.00,10.13:0.00,2.97:0.00,0.87:0.00,0.73:0.00,0.51:40,48:148.2,262.2:0,0:0,0:28,59:118,83:20,30:-,chr1 g.121478808A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121478816 rs56170856 A G 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=160 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,G:10:7:0:0:6,4:196,137:0.00,12.69:0.00,6.37:0.00,6.31:0.00,0.84:0.00,0.96:0.00,0.46:48,40:185.3,148.2:0,0:0,0:36,35:104,111:31,20:-,chr1 g.121478815A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121478853 rs113464816 G T 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4505,T/0.5495;NP=192 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,T:13:9:0:0:4,9:104,267:0.00,27.54:0.00,15.97:0.00,11.57:0.00,1.00:0.00,1.00:0.00,1.00:48,40:247.2,102.9:0,0:0,0:83,42:55,109:10,12:-,chr1 g.121478852G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121478888 rs147672371 C T 40 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=301 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:C,T:15:9:0:0:2,13:72,366:0.00,40.07:0.00,22.85:0.00,17.22:0.00,1.00:0.00,1.00:0.00,1.00:40,43:66.5,145.8:0,0:0,0:59,72:91,77:18,33:-,chr1 g.121478887C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121478967 rs201938807 T A 10 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=86 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,T:22:16:0:0:4,18:127,547:10.09,0.00:1.86,0.00:8.23,0.00:0.96,0.00:0.92,0.00:0.79,0.00:40,42:79.2,63.8:0,0:0,0:58,72:92,72:10,18:chr1 g.121478966T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121478969 rs149467082 T G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=2;NP=728 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:G,T:22:16:0:0:4,18:133,576:10.68,0.00:6.50,0.00:4.18,0.00:0.96,0.00:0.92,0.00:0.79,0.00:43,42:83.0,59.2:0,0:0,0:89,63:61,87:26,17:chr1 g.121478968T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121478973 rs111506423 A C 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4038,C/0.5962,T/.;NP=254 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:16:0:0:7,15:228,506:0.00,51.76:0.00,33.85:0.00,17.91:0.00,1.00:0.00,1.00:0.00,1.00:42,42:30.9,83.3:0,0:0,0:75,69:66,81:10,20:-,chr1 g.121478972A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121479106 rs11485798 G A 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=113 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:2:0:0:13:447:50.90:5.57:45.33:1.00:1.00:1.00:40:132.8:0:0:88:56:20:chr1 g.121479105G>A (intergenic),chr1 g.121479105G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121479113 rs370840030 C T 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:13:1:0:0:10,3:297,102:0.00,8.58:0.00,3.14:0.00,5.44:0.00,0.58:0.00,0.49:0.00,0.92:40,40:90.2,274.7:0,0:0,0:111,75:33,76:20,2:-,chr1 g.121479112C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121479311 rs112897198 T G 10 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:G,T:6:5:0:0:3,3:103,104:9.92,0.00:8.49,0.00:1.44,0.00:0.73,0.00:0.96,0.00:0.89,0.00:9,26:177.0,147.0:0,0:0,0:70,58:72,72:2,8:chr1 g.121479310T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121479312 rs113447182 G C 6 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:5:4:0:0:2,3:70,104:6.49,0.00:4.88,0.00:1.62,0.00:0.46,0.00:0.87,0.00:0.70,0.00:9,26:133.0,144.7:0,0:0,0:72,65:67,86:1,11:chr1 g.121479311G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121480061 rs79571505 A G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:5:0:0:2,3:69,98:0.00,9.77:0.00,9.97:0.00,-0.20:0.00,0.78:0.00,0.78:0.00,0.73:15,40:183.5,169.0:0,0:0,0:32,14:117,136:24,2:-,chr1 g.121480060A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121480078 rs76132614 A T 23 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:202:23.06:21.07:1.99:1.00:1.00:1.00:40:183.5:0:0:30:120:7:chr1 g.121480077A>T (intergenic),chr1 g.121480077A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480081 rs78018537 G C 23 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:205:23.36:21.37:1.99:1.00:1.00:1.00:40:184.2:0:0:33:117:9:chr1 g.121480080G>C (intergenic),chr1 g.121480080G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480117 rs79505434 A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:15:12:0:0:12,3:411,101:0.00,8.27:0.00,3.69:0.00,4.58:0.00,0.55:0.00,0.89:0.00,0.75:55,53:163.3,132.0:0,0:0,0:32,32:108,119:18,6:-,chr1 g.121480116A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121480160 rs75545636 G T 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:14:0:0:18:569:65.48:41.08:24.40:1.00:1.00:1.00:55:162.6:0:0:66:77:9:chr1 g.121480159G>T (intergenic),chr1 g.121480159G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480195 rs76855934 C A 69 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=829 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:14:0:0:19:598:68.86:39.49:29.36:1.00:1.00:1.00:55:170.1:0:0:97:42:13:chr1 g.121480194C>A (intergenic),chr1 g.121480194C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480221 rs75478280 A C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:19:11:0:0:16,3:518,98:0.00,7.63:0.00,8.38:0.00,-0.75:0.00,0.51:0.00,0.79:0.00,0.81:54,25:180.1,275.3:0,0:0,0:116,25:34,125:15,2:-,chr1 g.121480220A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121480237 rs74374652 C A 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,T:15:8:0:0:14,1:477,35:53.96,2.80:28.50,0.00:25.45,2.80:1.00,0.00:1.00,0.00:1.00,0.00:54,9:245.9,267.0:0,0:0,0:46,78:105,73:27,0:chr1 g.121480236C>A (intergenic),chr1 g.121480236C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480238 rs76228163 A G 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,G:15:8:0:0:1,14:34,447:0.00,49.75:0.00,20.80:0.00,28.95:0.00,1.00:0.00,1.00:0.00,1.00:11,54:195.0,251.0:0,0:0,0:138,47:12,104:0,27:chr1 g.121480237A>G (intergenic),chr1 g.121480237A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480240 rs76243853 A G 58 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=304 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:8:0:0:15:513:58.42:28.04:30.38:1.00:1.00:1.00:54:247.3:0:0:52:99:30:chr1 g.121480239A>G (intergenic),chr1 g.121480239A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480249 rs111312108 G A 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:7:0:0:14:456:52.28:23.90:28.38:1.00:1.00:1.00:44:252.9:0:0:58:93:27:chr1 g.121480248G>A (intergenic),chr1 g.121480248G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480277 rs75243034 T C 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:4:0:0:12:401:45.78:13.92:31.86:1.00:1.00:1.00:43:246.9:0:0:80:70:16:chr1 g.121480276T>C (intergenic),chr1 g.121480276T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480287 rs76331431 G A 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=109 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:4:0:0:12:380:43.72:12.92:30.80:1.00:1.00:1.00:43:246.9:0:0:90:60:16:chr1 g.121480286G>A (intergenic),chr1 g.121480286G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480345 rs111649657 T G 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=72 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:2:0:0:9:254:29.54:2.40:27.14:1.00:1.00:1.00:40:198.6:0:0:126:25:23:chr1 g.121480344T>G (intergenic),chr1 g.121480344T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121480360 rs143220448 A AG 12 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=12;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:AG:5:0:5:0:5:101:12.34:0.00:12.34:1.00:0.00:1.00:40:131.2:0:0:98:50:14:chr1 g.121480360_121480361insG (intergenic),chr1 g.121480360_121480361insG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121481252 rs28767216 C T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=142 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:166:18.98:13.17:5.82:1.00:1.00:1.00:40:54.6:0:0:36:115:12:chr1 g.121481251C>T (intergenic),chr1 g.121481251C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121481729 rs28797803 G A 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,G:8:8:0:0:7,1:224,36:24.43,0.00:15.28,0.00:9.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,7:135.3,297.0:0,0:0,0:66,53:85,98:11,0:chr1 g.121481728G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121481742 rs78026679 G T 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G,T:8:8:0:0:1,7:13,237:0.00,25.78:0.00,14.37:0.00,11.41:0.00,1.00:0.00,1.00:0.00,1.00:7,44:297.0,135.1:0,0:0,0:66,68:85,82:0,18:chr1 g.121481741G>T (intergenic),chr1 g.121481741G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121481746 rs77932065 A G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=67 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:A,G:9:8:0:0:2,7:43,248:0.00,26.11:0.00,13.03:0.00,13.08:0.00,1.00:0.00,1.00:0.00,1.00:43,44:174.5,134.7:0,0:0,0:45,54:97,96:25,28:-,chr1 g.121481745A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121481782 rs28809188 A C 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=570 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,C:9:8:0:0:2,7:68,250:0.00,26.27:0.00,10.82:0.00,15.44:0.00,1.00:0.00,1.00:0.00,1.00:7,44:179.5,127.9:0,0:0,0:71,108:78,42:35,18:-,chr1 g.121481781A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121482162 rs142013455 T A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=306 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:A,T:4:3:0:0:3,1:94,12:9.88,0.00:6.03,0.00:3.85,0.00:0.85,0.00:0.99,0.00:0.83,0.00:40,15:133.7,119.0:0,0:0,0:24,85:121,66:9,0:chr1 g.121482161T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121482231 rs148483246 G C 60 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5984,C/0.4016;NP=759 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:18:13:0:0:16,2:550,67:59.91,0.00:25.60,0.00:34.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,15:103.9,179.5:0,0:0,0:50,75:94,67:13,66:chr1 g.121482230G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121482244 rs113705519 C A 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=858 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:12:0:0:18:568:65.31:31.07:34.24:1.00:1.00:1.00:52:110.2:0:0:63:81:13:chr1 g.121482243C>A (intergenic),chr1 g.121482243C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121482320 rs112923999 A G 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=746 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,G:11:8:0:0:1,10:34,330:0.00,36.31:0.00,17.86:0.00,18.46:0.00,1.00:0.00,1.00:0.00,1.00:15,52:190.0,111.4:0,0:0,0:99,133:36,11:0,10:-,chr1 g.121482319A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121482358 rs112841743 G A 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=283 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:5:1:0:0:4,1:112,34:12.02,0.00:2.78,0.00:9.24,0.00:0.96,0.00:0.87,0.00:1.00,0.00:40,15:109.0,185.0:0,1:0,0:139,121:11,7:8,0:chr1 g.121482357G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121482742 rs9439266 A C 62 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=557 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:14:0:0:16:545:62.13:48.51:13.62:1.00:1.00:1.00:42:91.9:0:0:36:113:28:chr1 g.121482741A>C (intergenic),chr1 g.121482741A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121482773 rs112988901 A G 21 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=572 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:17:0:0:14,7:481,230:0.00,20.53:0.00,20.03:0.00,0.51:0.00,0.97:0.00,1.00:0.00,0.97:42,42:94.1,118.6:0,0:0,0:59,35:85,115:29,18:-,chr1 g.121482772A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121482794 rs370537486 A G 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=167 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:21:16:0:0:18,3:618,102:0.00,7.89:0.00,3.70:0.00,4.20:0.00,0.49:0.00,0.85:0.00,0.79:42,40:92.5,157.3:0,0:0,0:69,30:78,112:24,9:-,chr1 g.121482793A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121482872 rs75540954 G T 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=675 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:10:0:0:17:519:60.00:28.50:31.50:1.00:1.00:1.00:42:130.8:0:0:107:43:21:chr1 g.121482871G>T (intergenic),chr1 g.121482871G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121482889 rs75960778 A C 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5429,C/0.4571,T/.;NP=417 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:4:0:0:12:356:41.30:13.12:28.18:1.00:1.00:1.00:42:133.6:0:0:118:31:5:chr1 g.121482888A>C (intergenic),chr1 g.121482888A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121482907 rs79948302 C A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5952,A/0.4048;NP=114 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:A,C:11:3:0:0:10,1:288,34:32.07,0.00:4.19,0.00:27.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,58:134.5,0.0:0,0:0,0:136,11:14,139:5,0:chr1 g.121482906C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121482982 rs56026513 C G 10 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4551,G/0.5449;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:3:0:0:1,3:35,97:0.00,10.15:0.00,7.10:0.00,3.05:0.00,0.85:0.00,0.99:0.00,0.95:58,41:0.0,133.7:0,0:0,0:87,8:63,142:0,2:-,chr1 g.121482981C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121482997 rs28835281 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3964,C/0.6036;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:5:4:0:0:4,1:127,35:13.52,0.00:10.09,0.00:3.43,0.00:0.96,0.00:1.00,0.00:0.97,0.00:41,60:124.8,33.0:0,0:0,0:22,19:128,132:4,0:chr1 g.121482996T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121482998 rs28848269 G A 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3994,A/0.6006;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:5:4:0:0:4,1:118,36:12.62,0.00:9.39,0.00:3.23,0.00:0.96,0.00:1.00,0.00:0.97,0.00:41,58:124.8,0.0:0,0:0,0:23,103:127,47:4,0:chr1 g.121482997G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483056 rs28861446 T G 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=949 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,T:16:12:0:0:15,1:488,33:54.33,0.00:36.94,0.00:17.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,60:63.7,33.0:0,0:0,0:38,78:112,73:7,0:chr1 g.121483055T>G (intergenic),chr1 g.121483055T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483226 rs28824609 A C 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=719 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:14:0:0:20:646:74.14:47.41:26.72:1.00:1.00:1.00:52:102.4:0:0:71:79:51:chr1 g.121483225A>C (intergenic),chr1 g.121483225A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483239 rs28767014 A G 90 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=772 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:17:0:0:23:786:89.57:55.91:33.65:1.00:1.00:1.00:60:102.1:0:0:58:90:42:chr1 g.121483238A>G (intergenic),chr1 g.121483238A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483282 rs75325761 T G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=153 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:G,T:29:20:0:0:3,26:107,861:7.94,0.00:4.02,0.00:3.92,0.00:0.43,0.00:0.79,0.00:0.82,0.00:41,60:127.7,90.7:0,0:0,0:38,43:36,105:3,28:chr1 g.121483281T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483297 rs202165742 C T 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=137 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,C,T:32:24:0:0:1,27,4:35,860,141:2.10,0.00,10.83:2.27,0.00,5.36:-0.17,0.00,5.48:0.00,0.00,0.63:0.00,0.00,0.47:0.00,0.00,0.87:40,60,55:296.0,75.6,147.0:0,0,0:0,0,0:116,40,51:35,109,21:0,20,6:-,chr1 g.121483296C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121483309 rs28857589 C G 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=364 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,G:35:26:0:0:32,3:1084,106:0.00,7.59:0.00,2.26:0.00,5.33:0.00,0.40:0.00,0.80:0.00,0.76:60,60:84.6,140.0:0,0:0,0:56,36:80,115:30,2:-,chr1 g.121483308C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121483392 rs28881336 C G 110 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1162 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A,G:29:16:0:0:1,28:33,972:2.31,110.13:2.31,39.62:0.00,70.51:0.00,1.00:0.00,1.00:0.00,1.00:40,60:253.0,101.5:0,0:0,0:41,94:99,55:0,31:chr1 g.121483391C>G (intergenic),chr1 g.121483391C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483399 rs28855199 A T 107 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1123 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:16:0:0:29:930:106.83:41.35:65.48:1.00:1.00:1.00:60:104.0:0:0:109:39:27:chr1 g.121483398A>T (intergenic),chr1 g.121483398A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483511 rs12758940 G A 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=166 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:3:0:0:8:271:30.92:5.67:25.25:1.00:1.00:1.00:52:111.8:0:0:115:8:27:chr1 g.121483510G>A (intergenic),chr1 g.121483510G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483514 rs28787408 C A 21 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=74 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:1:0:0:6:181:20.93:1.99:18.94:1.00:1.00:1.00:52:133.7:0:0:127:12:14:chr1 g.121483513C>A (intergenic),chr1 g.121483513C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483669 rs12735843 C G 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=328 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,G:10:9:0:0:1,9:8,316:0.40,35.48:0.40,31.45:0.00,4.03:0.00,1.00:0.00,1.00:0.00,0.93:33,40:52.0,132.1:0,0:0,0:115,36:31,115:0,29:chr1 g.121483668C>G (intergenic),chr1 g.121483668C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483674 rs12748164 T C 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=325 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:9:0:0:10:331:37.87:33.79:4.08:1.00:1.00:1.00:40:124.1:0:0:46:104:34:chr1 g.121483673T>C (intergenic),chr1 g.121483673T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483714 rs28805904 T C 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=288 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:17:0:0:8,13:270,355:24.79,0.00:15.04,0.00:9.75,0.00:0.99,0.00:1.00,0.00:0.96,0.00:40,54:140.6,108.2:0,0:0,0:44,23:105,128:25,13:chr1 g.121483713T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483725 rs9793145 A T 81 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=597 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:17:0:0:22:701:80.52:51.89:28.63:1.00:1.00:1.00:54:122.5:0:0:35:116:14:chr1 g.121483724A>T (intergenic),chr1 g.121483724A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121483775 . A G 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=33;NP=1;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:33:24:0:0:30,3:973,101:0.00,7.17:0.00,3.51:0.00,3.66:0.00,0.41:0.00,0.80:0.00,0.78:55,39:108.7,261.0:0,0:0,0:72,37:77,114:31,21:-,chr1 g.121483774A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121483777 . T C 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T:32:23:0:0:5,27:149,878:11.30,0.00:6.90,0.00:4.40,0.00:0.79,0.00:0.94,0.00:0.94,0.00:52,55:232.0,86.9:0,0:0,0:18,55:133,96:7,27:chr1 g.121483776T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483782 rs76912591 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=101 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:34:25:0:0:27,7:814,241:0.00,19.94:0.00,6.48:0.00,13.46:0.00,0.95:0.00,0.99:0.00,0.98:55,52:87.9,199.3:0,0:0,0:64,24:87,126:29,14:-,chr1 g.121483781C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121483818 rs74748229 T C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=112 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:27:0:0:10,32:303,1025:25.07,0.00:14.05,0.00:11.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,55:197.0,71.8:0,0:0,0:41,82:98,66:16,28:chr1 g.121483817T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483823 rs28807690 A C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=702 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C:44:29:0:0:40,4:1338,144:0.00,10.49:0.00,5.31:0.00,5.18:0.00,0.57:0.00,0.85:0.00,0.87:55,57:97.3,183.8:0,0:0,0:86,39:62,102:35,5:-,chr1 g.121483822A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121483843 . A G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;NP=376 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:A,G:40:24:0:0:37,3:1188,105:0.00,7.31:0.00,2.35:0.00,4.96:0.00,0.37:0.00,0.72:0.00,0.81:55,57:101.1,174.7:0,0:0,0:94,56:55,86:31,6:-,chr1 g.121483842A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121483868 rs28760037 T C 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=591 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:21:0:0:16,20:520,609:48.94,0.00:13.99,0.00:34.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,57:68.8,127.2:0,0:0,0:115,84:35,50:21,25:chr1 g.121483867T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483887 rs148221788 T G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=80 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:G,T:32:19:0:0:6,26:212,866:17.36,0.00:7.52,0.00:9.84,0.00:0.89,0.00:0.95,0.00:0.99,0.00:52,57:199.2,93.5:0,0:0,0:118,103:25,41:10,22:chr1 g.121483886T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483888 rs141131022 G C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=61 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:C,G:29:16:0:0:4,25:142,839:11.06,0.00:5.79,0.00:5.27,0.00:0.65,0.00:0.84,0.00:0.93,0.00:52,57:183.8,89.6:0,0:0,0:119,107:28,35:7,24:chr1 g.121483887G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121483950 rs28878490 A T 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=475 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:2:0:0:9:285:32.79:5.16:27.63:1.00:1.00:1.00:48:83.9:0:0:114:35:14:chr1 g.121483949A>T (intergenic),chr1 g.121483949A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484054 rs76165719 T A,G 25 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:15:A,G:8:8:0:0:7,1:222,30:25.13,2.58:14.22,2.58:10.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,21:131.1,142.0:0,0:0,0:1,1:139,150:0,0:chr1 g.121484053T>A (intergenic),chr1 g.121484053T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484070 rs9701119 G T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=142;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=776 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:G,T:142:137:0:0:129,13:4328,434:0.00,30.74:0.00,20.17:0.00,10.57:0.00,1.00:0.00,1.00:0.00,1.00:60,52:92.8,118.0:0,0:0,0:16,19:92,93:5,7:-,chr1 g.121484069G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484076 . T C 32 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=146;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,G,T:146:141:0:0:14,1,131:455,10,4433:32.20,-0.33,0.00:33.05,-0.17,0.00:-0.85,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:39,39,60:225.5,93.0,83.7:0,0,0:0,0,0:20,43,23:106,75,83:5,0,6:chr1 g.121484075T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484101 rs9701900 A G 30 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=152;DB;DBA=NA;PAF=NA;NP=1;NP=183 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,G,T:152:146:0:0:134,13,5:4280,428,167:0.00,29.97,9.74:0.00,32.01,5.91:0.00,-2.04,3.82:0.00,0.99,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,39,50:85.4,238.0,120.4:0,0,0:0,0,0:47,44,49:62,83,40:7,4,7:-,chr1 g.121484100A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484122 rs150777555 G T 35 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=2;NP=5;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,C,G,T:159:153:0:0:3,1,140,15:62,35,4350,492:1.79,1.40,0.00,35.15:1.11,0.66,0.00,37.49:0.67,0.74,0.00,-2.34:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:50,60,60,40:192.7,35.0,87.9,222.4:0,0,0,0:0,0,0,0:63,60,67,65:87,36,40,62:5,0,7,4:-,chr1 g.121484121G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484123 rs139162652 A T 30 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=164;DB;DBA=NA;PAF=NA;NP=1;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,T:164:158:0:0:150,14:4673,435:0.00,29.51:0.00,30.38:0.00,-0.86:0.00,1.00:0.00,1.00:0.00,1.00:60,39:92.4,232.9:0,0:0,0:67,67:39,59:7,5:-,chr1 g.121484122A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484126 rs147283747 C A 31 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=157;DB;DBA=NA;PAF=NA;NP=12;NP=3;NP=441 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,C,G,T:157:151:0:0:16,138,2,1:456,4479,44,10:31.18,0.00,1.34,-0.30:32.19,0.00,0.64,-0.22:-1.01,0.00,0.70,-0.07:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,60,45,24:218.3,90.2,119.0,258.0:0,0,0,0:0,0,0,0:70,70,67,70:56,36,50,80:5,7,1,0:chr1 g.121484125C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484142 rs9662444 C T 92 nt VT=SNV;PN=A;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=NA;NP=1639 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:146:140:0:0:111,35:3501,1099:0.00,91.74:0.00,69.33:0.00,22.42:0.00,1.00:0.00,1.00:0.00,1.00:60,53:96.8,175.5:0,0:0,0:88,81:26,42:7,10:-,chr1 g.121484141C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484146 rs9988652 A T 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=139;DB;DBA=NA;PAF=NA;NP=534 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,G,T:139:133:0:0:122,1,16:3939,11,458:0.00,-0.28,32.07:0.00,-0.16,21.44:0.00,-0.12,10.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,21,60:118.5,171.0,109.1:0,0,0:0,0,0:90,96,96:32,26,14:6,0,11:-,chr1 g.121484145A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484153 rs9701684 C G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=NA;NP=1673 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:123:117:0:0:1,101,19,2:13,3293,571,16:-0.19,0.00,43.53,-0.52:-0.09,0.00,26.42,-0.31:-0.10,0.00,17.11,-0.21:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:27,60,44,40:219.0,122.7,143.1,135.0:0,0,0,0:0,0,0,0:88,99,85,102:63,26,32,33:0,5,19,9:-,chr1 g.121484152C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484159 rs6605014 C G 274 nt VT=SNV;PN=T;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1072 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:106:100:0:0:1,21,82,2:33,667,2584,44:1.66,0.00,274.50,2.16:0.83,0.00,216.71,1.16:0.83,0.00,57.79,1.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:43,45,60,39:100.0,139.5,142.5,125.5:0,0,0,0:0,0,0,0:93,91,105,131:8,38,23,-13:0,18,5,6:-,chr1 g.121484158C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484184 . G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:A,G,T:56:49:0:0:5,50,1:141,1458,10:9.23,0.00,-0.23:8.41,0.00,-0.11:0.83,0.00,-0.11:0.70,0.00,0.00:0.95,0.00,0.00:0.78,0.00,0.00:43,60,6:148.0,155.4,213.0:0,0,0:0,0,0:108,122,131:42,24,20:33,19,0:chr1 g.121484183G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484193 rs4897988 T A 98 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=455 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,C,G,T:37:31:0:0:31,1,2,3:883,15,19,100:98.19,0.50,0.63,0.00:77.97,-0.01,0.69,0.00:20.22,0.51,-0.06,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:44,24,40,33:192.7,258.0,173.5,67.3:0,0,0,0:0,0,0,0:104,137,99,139:43,13,48,4:23,0,17,3:chr1 g.121484192T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484194 . G A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,G:37:31:0:0:3,34:99,904:6.82,0.00:7.17,0.00:-0.35,0.00:0.38,0.00:0.83,0.00:0.58,0.00:25,44:261.0,175.3:0,0:0,0:102,109:48,39:26,26:chr1 g.121484193G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484197 rs9701907 A C 104 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=468 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:A,C:36:32:0:0:4,32:56,933:0.00,103.62:0.00,79.78:0.00,23.84:0.00,1.00:0.00,1.00:0.00,1.00:43,44:162.5,190.6:0,0:0,0:65,113:45,36:21,23:chr1 g.121484196A>C (intergenic),chr1 g.121484196A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484200 rs9724761 T A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,C,T:37:33:0:0:5,1,31:122,34,753:8.41,1.95,0.00:8.85,2.03,0.00:-0.44,-0.08,0.00:0.77,0.00,0.00:0.97,0.00,0.00:0.70,0.00,0.00:40,2,43:209.4,189.0,189.8:0,0,0:0,0,0:108,111,108:42,37,36:26,0,27:chr1 g.121484199T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484201 rs9701124 G A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=2;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:A,G:39:34:0:0:8,31:180,968:13.28,0.00:14.03,0.00:-0.75,0.00:0.97,0.00:1.00,0.00:0.85,0.00:40,43:188.4,193.1:0,0:0,0:101,109:47,35:13,28:chr1 g.121484200G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484222 rs9793570 G C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=1;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,G:33:29:0:0:7,26:180,701:14.00,0.00:12.86,0.00:1.13,0.00:0.95,0.00:1.00,0.00:0.81,0.00:33,43:204.4,209.2:0,0:0,0:26,112:120,27:16,23:chr1 g.121484221G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484225 rs149690522 T G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,G,T:34:30:0:0:1,6,27:13,174,795:0.07,13.49,0.00:0.16,14.04,0.00:-0.08,-0.55,0.00:0.00,0.89,0.00:0.00,0.99,0.00:0.00,0.77,0.00:40,27,43:183.0,247.8,199.3:0,0,0:0,0,0:141,76,97:8,69,31:0,49,41:chr1 g.121484224T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484229 rs75104315 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,G,T:33:29:0:0:26,6,1:823,196,8:0.00,15.76,-0.18:0.00,14.66,-0.10:0.00,1.09,-0.08:0.00,0.89,0.00:0.00,0.99,0.00:0.00,0.79,0.00:42,43,40:203.4,246.7,118.0:0,0,0:0,0,0:119,32,101:26,118,21:22,4,0:-,chr1 g.121484228A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484236 rs9658904 T C 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.4179,C/0.5821;NP=204 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C,T:27:25:0:0:26,1:814,8:92.27,0.00:78.51,0.00:13.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,2:223.7,140.0:0,0:0,0:88,65:35,46:50,0:chr1 g.121484235T>C (intergenic),chr1 g.121484235T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484261 rs4127590 A G 43 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,C,G,T:17:17:0:0:3,1,12,1:74,35,402,16:0.00,2.67,42.59,0.82:0.00,1.32,41.21,0.84:0.00,1.35,1.38,-0.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:50,43,40,40:205.0,205.0,224.4,275.0:0,0,0,0:0,0,0,0:49,125,62,66:97,-26,88,85:11,0,6,0:-,chr1 g.121484260A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484271 . C T 8 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,T:16:16:0:0:13,3:409,95:0.00,7.58:0.00,7.76:0.00,-0.18:0.00,0.54:0.00,0.54:0.00,0.57:43,9:209.2,279.3:0,0:0,0:73,67:78,82:9,3:-,chr1 g.121484270C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484272 rs7418784 T G 29 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,C,G,T:14:14:0:0:1,1,10,2:30,12,266,67:2.27,0.55,28.70,0.00:1.13,0.58,29.24,0.00:1.13,-0.03,-0.54,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.98,0.00:42,40,40,33:194.0,275.0,227.3,191.5:0,0,0,0:0,0,0,0:49,77,73,35:86,74,77,89:0,0,5,24:chr1 g.121484271T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484283 rs4788327 T A 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,T:18:18:0:0:17,1:557,36:62.13,0.00:58.96,0.00:3.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:244.7,194.0:0,0:0,0:76,60:75,75:11,0:chr1 g.121484282T>A (intergenic),chr1 g.121484282T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484293 rs4127592 A C,T 69 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:119:C,G,T:28:28:0:0:22,1,5:607,34,162:68.78,2.44,14.84:66.84,1.22,13.23:1.94,1.22,1.61:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:40,50,40:253.6,176.0,243.2:0,0,0:0,0,0:13,70,94:131,65,56:10,0,4:chr1 g.121484292A>C (intergenic),chr1 g.121484292A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484316 rs4092786 G T 133 nt VT=SNV;PN=G;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=344 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:69:67:0:0:1,25,43:11,787,1321:0.02,0.00,133.19:0.03,0.00,121.53:-0.01,0.00,11.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,51,60:275.0,204.5,243.3:0,0,0:0,0,0:121,25,15:30,106,134:0,17,8:-,chr1 g.121484315G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484330 rs4092787 G A 222 nt VT=SNV;PN=T;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:112:92:0:0:73,1,38:2187,34,1196:222.43,1.69,0.00:170.32,1.72,0.00:52.11,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,60:231.1,200.0,218.2:0,1,0:0,0,0:19,22,23:129,129,128:11,0,18:chr1 g.121484329G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484358 rs4898056 C T 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=185;DB;DBA=NA;PAF=C/0.3211,A/.,T/0.6789;NP=277 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:185:137:0:0:2,147,2,34:45,4514,41,1032:1.36,0.00,1.44,81.53:1.49,0.00,-0.41,63.14:-0.13,0.00,1.85,18.39:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:42,60,6,60:204.5,210.4,210.5,231.0:0,0,0,0:0,0,0,0:44,26,40,31:105,124,108,118:12,14,11,14:-,chr1 g.121484357C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484360 rs9662466 C T 615 nt VT=SNV;PN=C;NN=T;SST=Single;DP=188;DB;DBA=NA;PAF=NA;NP=672 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A,C,G,T:188:140:0:0:2,12,2,172:45,324,36,5522:2.00,0.00,1.51,614.64:1.07,0.00,1.54,412.20:0.94,0.00,-0.03,202.44:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:191.0,211.5,161.5,216.2:0,0,0,0:0,0,0,0:30,31,8,30:120,118,142,119:22,13,0,14:chr1 g.121484359C>T (intergenic),chr1 g.121484359C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484381 rs4898062 C G 918 nt VT=SNV;PN=C;NN=G;SST=Single;DP=271;DB;DBA=NA;PAF=NA;NP=112 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:271:204:0:0:4,1,266:114,35,7962:6.33,0.00,917.77:6.33,0.00,567.65:0.00,0.00,350.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,9,60:229.0,231.0,208.9:0,0,0:0,0,0:36,89,37:112,42,110:25,0,19:chr1 g.121484380C>G (intergenic),chr1 g.121484380C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484383 rs71257330 T G 965 nt VT=SNV;PN=G;NN=A;SST=Single;DP=283;DB;DBA=NA;PAF=NA;NP=75 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:283:210:0:0:2,5,268,8:64,139,8537,190:3.05,7.96,965.36,0.00:3.07,6.19,616.67,0.00:-0.01,1.77,348.69,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:234.5,191.4,206.3,153.2:0,0,1,0:0,0,0,0:89,38,36,53:47,109,112,98:31,19,19,32:chr1 g.121484382T>G (intergenic),chr1 g.121484382T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484388 rs10437190 T C 1034 nt VT=SNV;PN=T;NN=T;SST=Single;DP=301;DB;DBA=NA;PAF=NA;NP=61 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:301:225:0:0:3,282,2,14:70,9237,46,346:3.03,1033.65,1.96,0.00:2.10,644.43,1.97,0.00:0.93,389.22,-0.01,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,40:224.7,202.5,159.0,215.0:0,0,0,0:0,0,0,0:17,39,62,73:133,108,88,74:13,20,26,24:chr1 g.121484387T>C (intergenic),chr1 g.121484387T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484397 rs58399548 A C 132 nt VT=SNV;PN=T;NN=T;SST=Single;DP=365;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:365:276:0:1:311,53,1:9620,1722,34:0.00,132.06,0.97:0.00,97.96,0.44:0.00,34.10,0.53:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,52:179.0,191.3,271.0:1,0,0:0,0,0:40,25,80:105,119,71:24,11,0:-,chr1 g.121484396A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484423 rs7368003 T C 1913 nt VT=SNV;PN=A;NN=T;SST=Single;DP=513;DB;DBA=NA;PAF=NA;NP=3052 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:513:389:0:0:1,506,6:12,16849,139:0.03,1912.56,0.00:0.03,1142.36,0.00:-0.00,770.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:241.0,164.7,137.7:0,0,0:0,0,0:98,43,28:48,99,122:0,24,21:chr1 g.121484422T>C (intergenic),chr1 g.121484422T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484441 . A G 140 nt VT=SNV;PN=T;NN=T;SST=Single;DP=630;NP=3;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:630:478:0:0:563,62,5:17893,1982,98:0.00,140.28,1.86:0.00,98.16,0.70:0.00,42.13,1.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:146.3,259.0,145.8:0,0,0:0,0,0:55,17,39:83,123,110:29,10,20:-,chr1 g.121484440A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484449 rs4898075 G C 220 nt VT=SNV;PN=T;NN=A;SST=Single;DP=668;DB;DBA=NA;PAF=NA;NP=172 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:668:496:0:0:1,94,572,1:8,2926,18987,8:-0.24,220.07,0.00,-0.24:-0.15,145.17,0.00,-0.15:-0.10,74.90,0.00,-0.10:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:12,60,60,23:254.0,243.3,142.3,192.0:0,0,0,0:0,0,0,0:44,24,61,35:101,115,77,115:0,14,30,0:chr1 g.121484448G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484471 rs4898081 G C 295 nt VT=SNV;PN=A;NN=A;SST=Single;DP=758;DB;DBA=NA;PAF=NA;NP=1;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:758:539:0:0:1,121,634,2:10,3812,21094,42:-0.26,294.98,0.00,0.31:-0.14,183.05,0.00,-0.41:-0.13,111.93,0.00,0.71:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:138.0,252.8,137.2,130.0:0,0,1,0:0,0,0,0:59,36,70,89:92,106,72,60:0,16,31,47:chr1 g.121484470G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484473 rs4897889 G C 335 nt VT=SNV;PN=A;NN=A;SST=Single;DP=767;DB;DBA=NA;PAF=NA;NP=2;NP=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:767:539:0:3:5,133,624,5:75,4241,20529,79:0.08,334.99,0.00,0.34:0.62,206.13,0.00,0.38:-0.54,128.86,0.00,-0.04:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:57,60,60,60:203.8,248.2,134.6,174.2:0,0,0,0:0,0,0,0:22,36,71,95:129,104,71,29:22,16,31,36:chr1 g.121484472G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484493 rs74200761 G C 661 nt VT=SNV;PN=T;NN=T;SST=Single;DP=863;DB;DBA=NA;PAF=NA;NP=124 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:863:600:0:3:4,239,618,2:113,7674,20471,20:3.49,661.19,0.00,-0.49:1.67,392.00,0.00,-0.29:1.82,269.19,0.00,-0.21:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:57,60,60,51:226.8,234.4,129.5,208.5:0,0,0,0:0,0,0,0:87,34,75,82:63,110,69,63:10,21,34,31:chr1 g.121484492G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484503 rs4898086 T A 3234 nt VT=SNV;PN=G;NN=A;SST=Single;DP=907;DB;DBA=NA;PAF=NA;NP=3176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:907:625:0:0:893,4,5,5:28242,103,139,136:3233.97,3.65,5.87,0.00:1699.17,2.81,4.86,0.00:1534.80,0.84,1.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,59:161.1,191.0,108.6,221.4:1,0,0,0:0,0,0,0:64,34,73,50:79,115,31,83:35,21,38,41:chr1 g.121484502T>A (intergenic),chr1 g.121484502T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484533 rs4897894 G A 1399 nt VT=SNV;PN=G;NN=G;SST=Single;DP=1092;DB;DBA=NA;PAF=NA;NP=937 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1092:752:0:0:462,7,615,8:14976,144,18703,219:1398.55,3.64,0.00,8.22:803.78,0.83,0.00,-0.81:594.76,2.81,0.00,9.02:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:205.4,136.4,128.8,158.6:2,0,1,0:0,0,0,0:38,114,77,89:107,36,63,61:21,17,37,12:chr1 g.121484532G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484564 rs56210065 A T 754 nt VT=SNV;PN=T;NN=T;SST=Single;DP=1295;DB;DBA=NA;PAF=NA;NP=48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:1295:903:0:0:1001,7,287:31845,240,9136:0.00,9.14,754.10:0.00,6.02,402.84:0.00,3.11,351.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:159.6,206.1,199.0:2,0,0:0,0,0:59,89,48:83,62,100:36,32,26:-,chr1 g.121484563A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484566 rs4115066 A C 783 nt VT=SNV;PN=T;NN=A;SST=Single;DP=1309;DB;DBA=NA;PAF=NA;NP=1;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1309:906:0:2:1012,287,9,1:31734,9435,285,31:0.00,782.84,10.99,0.24:0.00,434.42,3.32,0.11:0.00,348.41,7.66,0.13:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:159.8,197.1,158.7,97.0:0,0,0,0:0,0,0,0:61,50,37,0:81,100,96,108:37,26,19,0:-,chr1 g.121484565A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484591 rs4898109 T A 5015 nt VT=SNV;PN=G;NN=A;SST=Single;DP=1388;DB;DBA=NA;PAF=NA;NP=3369 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:1388:926:0:0:1373,8,4,3:43724,160,126,28:5014.76,5.97,4.60,0.00:2535.57,3.82,0.93,0.00:2479.19,2.15,3.67,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,54:179.3,167.9,207.2,190.7:0,0,0,0:0,0,0,0:63,43,114,14:76,106,36,137:32,13,12,13:chr1 g.121484590T>A (intergenic),chr1 g.121484590T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484599 rs4898111 C G 1754 nt VT=SNV;PN=T;NN=T;SST=Single;DP=1368;DB;DBA=NA;PAF=NA;NP=895 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1368:922:0:0:2,764,559,43:41,25288,18794,1159:0.52,0.00,1754.46,63.81:0.25,0.00,833.43,26.25:0.27,0.00,921.03,37.56:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:56,60,60,60:84.0,178.6,182.3,193.3:0,0,0,0:0,0,0,0:92,60,69,53:28,83,74,80:3,28,31,29:-,chr1 g.121484598C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484600 rs1825267 T C 1634 nt VT=SNV;PN=C;NN=G;SST=Single;DP=1374;DB;DBA=NA;PAF=NA;NP=799 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1374:928:0:0:2,558,3,811:64,17708,53,27173:1.18,1634.04,0.45,0.00:0.59,829.95,0.21,0.00:0.59,804.09,0.24,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:58,60,60,60:212.0,181.2,206.7,180.3:0,0,0,0:0,0,0,0:68,71,50,63:68,71,101,77:29,31,11,29:chr1 g.121484599T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484602 rs71239173 T C 1876 nt VT=SNV;PN=G;NN=G;SST=Single;DP=1389;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1389:941:0:0:2,624,21,742:23,19889,636,23439:-0.29,1876.44,31.30,0.00:-0.12,1004.89,14.25,0.00:-0.17,871.55,17.05,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:55,60,60,60:141.5,179.0,230.1,182.4:0,0,0,0:0,0,0,0:92,64,50,63:57,78,81,78:27,29,12,29:chr1 g.121484601T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484621 rs34340237 T A 249 nt VT=SNV;PN=C;NN=C;SST=Single;DP=1457;DB;DBA=NA;PAF=NA;NP=1663 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,C,G,T:1457:985:0:0:114,1,3,1339:3673,20,72,44067:248.56,-0.47,1.16,0.00:117.58,-0.18,0.44,0.00:130.98,-0.29,0.72,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,59,60:199.3,148.0,150.7,177.6:0,0,0,0:0,0,0,0:98,59,75,77:41,91,76,66:24,0,4,30:chr1 g.121484620T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484650 rs4092774 A G 1628 nt VT=SNV;PN=C;NN=G;SST=Single;DP=1387;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1387:944:0:1:789,13,579,6:26080,205,17580,163:0.00,4.23,1628.47,5.20:0.00,1.44,817.16,2.70:0.00,2.79,811.30,2.50:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:177.1,184.5,193.4,189.7:0,0,0,0:0,0,0,0:85,101,77,90:57,43,67,54:28,15,33,19:-,chr1 g.121484649A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484685 rs9701937 A G 4505 nt VT=SNV;PN=T;NN=G;SST=Single;DP=1242;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3152 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:1242:805:0:0:8,4,1224,6:224,111,39438,89:0.00,4.32,4504.51,2.00:0.00,2.89,2277.53,0.16:0.00,1.43,2226.98,1.84:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:147.5,204.5,196.2,176.5:0,0,2,0:0,0,0,0:87,39,89,126:64,87,52,22:31,17,35,15:chr1 g.121484684A>G (intergenic),chr1 g.121484684A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484688 rs2128558 T A 203 nt VT=SNV;PN=A;NN=A;SST=Single;DP=1242;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,C,G,T:1242:800:0:0:101,9,3,1129:3058,290,35,35412:203.29,10.97,-0.87,0.00:102.47,9.03,-0.37,0.00:100.82,1.95,-0.50,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:203.5,228.6,207.7,195.3:0,0,0,1:0,0,0,0:84,73,74,90:59,77,41,52:40,36,59,37:chr1 g.121484687T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484690 rs71230276 T A 305 nt VT=SNV;PN=A;NN=T;SST=Single;DP=1239;DB;DBA=NA;PAF=NA;NP=1108 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1239:796:0:1:142,3,2,1092:4277,83,28,34627:305.00,1.62,-0.79,0.00:161.71,2.04,-0.30,0.00:143.29,-0.43,-0.49,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,54,58,60:218.3,182.3,253.0,193.2:0,0,0,0:0,0,0,0:99,63,105,87:46,88,44,56:27,60,12,39:chr1 g.121484689T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484691 rs55927075 T C 211 nt VT=SNV;PN=T;NN=T;SST=Single;DP=1235;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,C,G,T:1235:789:0:0:3,98,3,1131:100,3122,82,35718:2.45,211.22,1.74,0.00:0.63,106.47,0.25,0.00:1.82,104.75,1.50,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:49,60,60,60:259.3,232.6,217.0,192.6:0,0,0,0:0,0,0,0:103,98,63,87:46,49,87,58:9,29,57,39:chr1 g.121484690T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484712 rs4788230 T G 3888 nt VT=SNV;PN=C;NN=T;SST=Single;DP=1143;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:1143:735:0:2:12,1105,26:310,34184,758:14.77,3887.70,0.00:6.80,1886.52,0.00:7.98,2001.18,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:199.8,196.2,174.2:0,2,0:0,0,0:107,73,64:40,73,78:39,40,39:chr1 g.121484711T>G (intergenic),chr1 g.121484711T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484723 rs4092775 T G 3466 nt VT=SNV;PN=G;NN=T;SST=Single;DP=1058;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:1058:693:0:5:7,1,976,74:184,11,31180,2234:8.23,-0.02,3465.85,0.00:6.60,-0.02,1744.23,0.00:1.63,0.00,1721.62,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,27,60,60:159.9,209.0,199.1,152.3:0,0,0,48:0,0,0,0:38,133,69,54:108,18,77,92:23,0,37,50:chr1 g.121484722T>G (intergenic),chr1 g.121484722T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484729 rs4092776 C T 3599 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=1011;DB;DBA=NA;PAF=NA;NP=139 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T,I:1011:644:2:51:7,5,6,991,2:191,155,184,31446,62:8.54,0.00,9.03,3598.78,1.88:4.42,0.00,4.50,1780.71,1.88:4.12,0.00,4.53,1818.06,-0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:193.7,168.6,168.2,195.8,90.5:3,3,3,0,0:0,0,0,0,0:46,84,24,75,47:72,67,86,71,103:31,31,16,36,44:chr1 g.121484728C>T (intergenic),chr1 g.121484728C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484730 rs4115078 T G 183 nt VT=SNV;PN=C;NN=C;SST=Single;DP=1060;DB;DBA=NA;PAF=NA;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,G,T,D:1058:684:0:6:1,80,974,3:27,2678,31126,139:-0.02,183.48,0.00,2.66:-0.21,86.88,0.00,1.41:0.19,96.60,0.00,1.25:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:59,60,60,60:260.0,202.2,191.3,244.0:0,0,3,2:0,0,0,0:83,55,71,85:68,89,74,66:0,35,37,28:chr1 g.121484729T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484732 rs4103110 A C 1129 nt VT=SNV;PN=C;NN=T;SST=Single;DP=1066;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:1066:690:0:4:656,390,20:20828,12435,620:0.00,1129.47,32.75:0.00,566.96,22.44:0.00,562.51,10.31:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:173.3,216.4,230.7:30,9,1:0,0,0:74,61,66:71,82,82:38,33,31:-,chr1 g.121484731A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484779 rs4788235 G A 1299 nt VT=SNV;PN=T;NN=C;SST=Single;DP=1101;DB;DBA=NA;PAF=NA;NP=2825 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:1101:723:0:1:461,1,632,6,1:14030,9,20703,125,20:1299.30,-0.27,0.00,3.21,-0.16:647.80,-0.13,0.00,0.20,-0.13:651.51,-0.13,0.00,3.01,-0.03:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,60,28:202.2,149.0,123.9,198.7,177.0:0,0,1,0,1:0,0,0,0,0:67,66,70,115,92:72,57,71,33,23:31,0,34,17,0:chr1 g.121484778G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484835 rs3916394 A T 1481 nt VT=SNV;PN=T;NN=T;SST=Single;DP=1106;DB;DBA=NA;PAF=NA;NP=1097;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1106:709:0:3:606,4,3,493:18831,49,55,15739:0.00,-0.75,0.57,1480.93:0.00,-0.38,-0.28,748.14:0.00,-0.37,0.85,732.78:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:78.1,144.0,152.7,185.9:0,0,0,0:0,0,0,0:77,79,115,83:69,63,12,61:37,48,17,36:-,chr1 g.121484834A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121484847 rs2022553 T G 1276 nt VT=SNV;PN=T;NN=G;SST=Single;DP=1068;DB;DBA=NA;PAF=NA;NP=775 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:1068:693:0:0:3,437,628:84,13807,20077:2.21,1275.76,0.00:-0.39,654.31,0.00:2.59,621.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:181.3,180.9,80.6:0,0,0:0,0,0:12,78,75:138,64,70:6,38,37:chr1 g.121484846T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484852 rs28838403 G A 786 nt VT=SNV;PN=A;NN=T;SST=Single;DP=1069;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1069:692:0:0:291,4,761,13:9170,131,25186,360:786.46,4.20,0.00,14.86:386.97,1.55,0.00,7.64:399.48,2.65,0.00,7.22:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:181.4,188.8,96.4,128.4:0,0,0,0:0,0,0,0:76,68,80,40:68,82,65,80:39,8,38,30:chr1 g.121484851G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484855 rs6656294 T G 1379 nt VT=SNV;PN=G;NN=A;SST=Single;DP=1068;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1325 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1068:695:0:0:1,4,455,608:8,130,14774,18746:-0.26,4.36,1379.25,0.00:-0.13,0.90,693.01,0.00:-0.13,3.46,686.24,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:129.0,174.8,176.2,74.1:0,0,0,0:0,0,0,0:126,61,71,74:20,89,72,67:0,9,38,38:chr1 g.121484854T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484880 rs2128557 T C 387 nt VT=SNV;PN=A;NN=G;SST=Single;DP=1064;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:1064:689:0:1:21,164,7,871,1:643,5044,170,27974,33:32.03,386.88,4.65,0.00,0.47:12.34,201.44,1.36,0.00,-0.19:19.69,185.44,3.28,0.00,0.66:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:60,60,60,60,60:173.7,90.7,109.3,119.7,100.0:0,0,0,0,1:0,0,0,0,0:75,77,68,69,136:69,67,42,75,15:30,35,40,38,0:chr1 g.121484879T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121484951 rs7368048 T C 3854 nt VT=SNV;PN=T;NN=G;SST=Single;DP=1075;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:1075:710:0:0:5,1055,6,9:152,33768,161,243:6.73,3854.41,6.80,0.00:1.68,1991.91,2.75,0.00:5.05,1862.51,4.05,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:126.4,139.8,152.2,165.7:0,3,0,0:0,0,0,0:15,78,56,38:136,67,77,111:10,33,36,14:chr1 g.121484950T>C (intergenic),chr1 g.121484950T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121484979 rs9793658 G T 1306 nt VT=SNV;PN=T;NN=T;SST=Single;DP=1027;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1027:671:0:1:1,8,578,440:8,273,19025,13986:-0.24,12.39,0.00,1305.98:-0.12,5.32,0.00,604.43:-0.12,7.07,0.00,701.56:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:87.0,137.9,111.2,193.9:0,0,0,0:0,0,0,0:117,118,80,83:22,32,63,64:0,24,34,25:-,chr1 g.121484978G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485001 rs7415276 G A 3581 nt VT=SNV;PN=C;NN=C;SST=Single;DP=998;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2354 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:998:668:0:3:976,6,3,13:31304,72,62,415:3580.70,1.77,0.00,23.58:1861.32,-0.00,0.00,14.65:1719.39,1.77,0.00,8.93:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:158.6,184.3,184.3,133.1:11,0,0,0:0,0,0,0:88,57,88,100:59,93,61,43:33,44,32,18:chr1 g.121485000G>A (intergenic),chr1 g.121485000G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121485002 rs55640303 C G 1057 nt VT=SNV;PN=G;NN=T;SST=Single;DP=1017;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1017:690:0:0:3,658,353,3:63,21842,11724,53:0.78,0.00,1056.70,0.48:0.94,0.00,481.12,-0.43:-0.16,0.00,575.58,0.92:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:142.7,130.5,214.1,141.7:0,15,0,0:0,0,0,0:108,76,95,124:30,67,54,27:10,40,24,7:-,chr1 g.121485001C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485012 rs28826338 A C 711 nt VT=SNV;PN=T;NN=A;SST=Single;DP=1090;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1090:751:0:1:828,257,4,1:25974,8464,98,34:0.00,711.29,2.03,0.57:0.00,360.49,1.09,0.27:0.00,350.79,0.93,0.30:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:150.8,222.0,177.0,135.0:14,0,0,0:0,0,0,0:71,95,51,40:69,55,87,111:42,34,17,0:-,chr1 g.121485011A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485015 rs28819139 G T 1102 nt VT=SNV;PN=A;NN=T;SST=Single;DP=1092;DB;DBA=NA;PAF=NA;NP=559 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1092:751:0:1:2,3,701,386:64,100,23171,12251:1.43,3.02,0.00,1102.02:1.19,0.86,0.00,509.80:0.24,2.16,0.00,592.22:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:237.0,230.0,141.6,214.2:0,0,13,0:0,0,0,0:14,135,66,98:135,16,76,50:5,4,45,30:-,chr1 g.121485014G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485020 rs74196864 T C 488 nt VT=SNV;PN=G;NN=A;SST=Single;DP=1127;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;NP=460 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1127:773:0:0:10,187,4,926:335,6170,78,28833:14.26,487.64,0.40,0.00:4.78,395.92,0.57,0.00:9.47,91.72,-0.16,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:182.4,228.9,208.0,158.1:0,1,0,1:0,0,0,0:69,16,70,80:81,134,81,61:37,12,38,40:chr1 g.121485019T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485033 rs7366679 T A 613 nt VT=SNV;PN=C;NN=G;SST=Single;DP=1162;DB;DBA=NA;PAF=NA;NP=120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1162:807:0:0:230,2,2,928:7533,64,49,30757:612.58,1.24,0.47,0.00:518.44,1.18,0.27,0.00:94.14,0.06,0.20,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,43,60,60:231.1,175.5,205.0,157.4:1,0,0,0:0,0,0,0:21,60,12,79:128,66,124,62:9,33,4,42:chr1 g.121485032T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485037 rs4115048 A C 329 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=1157;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1157:796:0:0:993,138,5,21:31934,4448,112,651:0.00,328.67,2.23,31.13:0.00,281.32,1.50,28.37:0.00,47.34,0.74,2.77:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:163.4,225.0,209.8,250.7:71,131,2,21:0,0,0,0:70,23,62,26:70,127,88,125:41,9,41,6:-,chr1 g.121485036A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485038 rs71248012 T TC 240 nt VT=INS;SST=Single;DP=1177;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,TC:1177:811:134:0:7,18,5,1013,134:201,461,133,31921,3512:6.18,16.59,3.38,0.00,239.92:5.05,9.50,1.69,0.00,212.83:1.13,7.08,1.69,0.00,27.08:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:193.0,201.9,173.4,162.6,238.6:0,1,0,91,0:0,0,0,0,0:56,0,130,67,26:93,150,20,73,125:6,0,17,42,10:-,chr1 g.121485038_121485039insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485043 rs28848874 T A 955 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=1297;DB;DBA=NA;PAF=NA;NP=43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,I:1297:873:1:0:359,7,4,926,1:11146,164,89,29314,23:955.49,3.52,1.28,0.00,-0.20:694.78,1.02,0.75,0.00,0.01:260.70,2.50,0.53,0.00,-0.21:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,59,60,60:210.9,201.6,237.2,156.4,151.0:218,2,2,4,0:0,0,0,0,0:19,114,29,67,119:130,37,122,76,27:17,26,17,38,0:chr1 g.121485042T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485071 rs77401738 C A 8273 nt VT=SNV;PN=C;NN=T;SST=Single;DP=2350;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3184 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:2350:1648:0:1:2260,69,9,12:73317,2089,260,279:8272.60,0.00,10.14,10.62:4851.25,0.00,3.06,6.82:3421.36,0.00,7.08,3.80:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:163.8,109.9,124.8,201.2:2,1,0,0:0,0,0,0:33,30,38,54:108,104,101,82:19,20,33,17:chr1 g.121485070C>A (intergenic),chr1 g.121485070C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121485076 rs7413510 C A 1347 nt VT=SNV;PN=T;NN=T;SST=Single;DP=2466;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,I:2466:1728:1:2:533,1878,38,16,1:16449,62010,1165,412,3:1346.63,0.00,54.44,12.30,0.00:917.05,0.00,31.34,10.27,0.00:429.58,0.00,23.10,2.03,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,60,3:178.5,152.5,198.8,199.4,135.0:2,1,0,0,0:0,0,0,0,0:26,38,33,31,2:120,104,106,119,147:12,22,11,17,0:chr1 g.121485075C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485088 rs7366682 T A 10391 nt VT=SNV;PN=A;NN=G;SST=Single;DP=2913;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2881 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:2913:2037:0:2:2795,1,13,104:92535,7,430,3275:10391.47,0.00,18.19,0.00:5654.82,0.00,9.67,0.00:4736.65,0.00,8.52,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:149.7,65.0,192.5,147.0:4,0,0,0:0,0,0,0:36,40,45,29:112,110,101,113:19,0,9,17:chr1 g.121485087T>A (intergenic),chr1 g.121485087T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121485099 rs7410920 T A 1383 nt VT=SNV;PN=G;NN=A;SST=Single;DP=3213;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=631 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:3213:2225:0:2:554,10,17,2632:17571,306,461,82302:1383.30,8.54,13.13,0.00:747.18,5.31,9.70,0.00:636.12,3.23,3.43,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:192.7,154.5,186.9,134.6:0,0,0,1:0,0,0,0:49,23,65,40:96,116,86,106:24,15,17,21:chr1 g.121485098T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485101 rs4787515 A T 844 nt VT=SNV;PN=A;NN=C;SST=Single;DP=3283;DB;DBA=NA;PAF=NA;NP=2;NP=532 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I:3283:2282:1:0:2906,4,8,364,1:90925,40,189,11653,32:0.00,-1.22,2.98,844.34,0.00:0.00,-0.69,2.02,382.95,0.00:0.00,-0.53,0.96,461.39,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:142.0,138.0,194.2,178.3,61.0:2,0,0,0,0:0,0,0,0,0:45,39,62,58,12:101,112,83,89,139:22,17,18,28,0:-,chr1 g.121485100A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485152 rs4092802 C G 1018 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4382;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,D:4382:3147:0:10:22,3918,423,18,1:560,130134,14168,379,3:13.44,0.00,1017.65,5.28,0.00:5.06,0.00,572.69,4.02,0.00:8.38,0.00,444.96,1.26,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:60,60,60,60,3:175.9,137.5,172.5,165.8,160.0:1,2,0,0,0:0,0,0,0,0:69,68,68,72,41:71,76,77,68,109:23,28,29,30,0:-,chr1 g.121485151C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485213 rs4897989 G A 824 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4607;DB;DBA=NA;PAF=NA;NP=1167 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:4607:3174:0:0:369,34,4168,36:12017,819,134470,852:823.78,22.90,0.00,21.64:467.29,13.01,0.00,10.27:356.49,9.89,0.00,11.37:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:182.8,173.4,144.1,158.3:0,1,15,0:0,0,0,0:80,82,89,99:67,68,55,51:40,45,38,36:chr1 g.121485212G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485219 rs4103100 T A 932 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4552;DB;DBA=NA;PAF=NA;NP=13;NP=463 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:4552:3173:0:2:417,76,9,4048,2:13328,2227,146,129005,55:932.15,100.15,-0.80,0.00,0.00:506.41,58.72,0.16,0.00,0.00:425.73,41.43,-0.96,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,60,60:182.0,176.7,195.4,146.5,143.0:0,0,0,1,0:0,0,0,0,0:85,73,102,85,46:63,67,49,61,103:38,38,37,42,44:chr1 g.121485218T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485227 rs74210638 A T 5548 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4528;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3337 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:4528:3191:0:0:2624,11,3,1890:82847,305,80,59801:0.00,7.07,0.59,5548.14:0.00,3.37,-0.13,3099.02:0.00,3.70,0.72,2449.12:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:152.0,173.7,137.7,155.1:11,0,0,0:0,0,0,0:84,50,27,79:60,95,112,61:42,14,25,41:-,chr1 g.121485226A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485241 rs4088681 G C 6579 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4327;DB;DBA=NA;PAF=NA;NP=2768 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:4326:3079:0:4:161,2110,1900,153,2:5103,67820,58623,4867,98:327.69,6579.27,0.00,310.48,0.00:163.64,3641.32,0.00,174.02,0.00:164.04,2937.96,0.00,136.46,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:60,60,60,60,60:197.7,158.9,156.7,184.9,197.5:0,1,5,0,1:0,0,0,0,0:70,60,61,66,41:76,83,83,77,110:36,41,41,45,23:chr1 g.121485240G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485246 rs7414882 G A 7030 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4208;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,I,D:4208:3056:1:4:2276,17,1897,16,1,1:71957,481,63663,339,34,33:7030.36,15.90,0.00,7.99,0.00,0.00:4143.24,12.33,0.00,2.86,0.00,0.00:2887.12,3.57,0.00,5.14,0.00,0.00:1.00,0.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00,0.00:60,60,60,60,56,33:170.2,164.9,156.1,172.6,67.0,49.0:2,0,2,0,0,0:0,0,0,0,0,0:65,64,61,74,3,126:80,83,81,73,81,24:40,33,38,35,0,0:chr1 g.121485245G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485248 rs4115049 A G 1682 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4220;DB;DBA=NA;PAF=NA;NP=663 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:4220:3071:0:0:3549,9,653,9:111998,256,21575,102:0.00,5.09,1682.09,-1.75:0.00,3.35,985.49,-0.51:0.00,1.74,696.60,-1.24:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:160.8,182.7,178.8,151.9:10,0,1,0:0,0,0,0:65,57,66,60:80,94,76,86:40,44,34,28:-,chr1 g.121485247A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485251 rs6600658 A T 15675 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4259;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T,I:4259:3120:2:1:33,16,14,4194,2:1006,448,333,137669,47:0.00,17.07,10.68,15674.58,0.00:0.00,8.93,7.04,9161.20,0.00:0.00,8.14,3.65,6513.37,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:115.0,162.3,166.2,164.3,176.0:2,0,0,2,0:0,0,0,0,0:66,62,70,64,28:73,85,70,80,122:44,52,40,36,20:chr1 g.121485250A>T (intergenic),chr1 g.121485250A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 121485275 rs28971877 C T 715 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4507;DB;DBA=NA;PAF=NA;NP=1556 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,C,G,T:4507:3399:0:2:31,4024,106,346:833,130585,3296,10715:23.89,0.00,170.04,714.66:16.80,0.00,112.28,368.64:7.09,0.00,57.76,346.02:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:190.4,150.3,184.5,158.8:0,14,0,1:0,0,0,0:81,62,28,56:68,79,102,86:51,31,16,33:-,chr1 g.121485274C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485290 rs1949900 C T 1057 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4479;DB;DBA=NA;PAF=NA;NP=2259 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:4479:3432:0:0:15,3995,11,458:326,129160,312,14772:4.51,0.00,6.32,1056.99:2.00,0.00,5.47,632.01:2.51,0.00,0.85,424.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:145.0,143.0,143.9,187.1:0,2,0,0:0,0,0,0:50,67,51,57:95,75,79,82:12,29,27,26:-,chr1 g.121485289C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485308 rs28972488 T C 927 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4481;DB;DBA=NA;PAF=NA;NP=1;NP=2999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:4481:3383:0:2:15,403,19,4042,2:389,13198,472,127306,46:8.17,927.02,9.80,0.00,0.00:7.12,509.20,4.61,0.00,0.00:1.05,417.81,5.19,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:60,60,60,60,43:182.1,180.5,167.8,139.3,79.5:0,0,0,13,0:0,0,0,0,0:92,77,66,75,103:58,63,59,65,47:33,28,38,28,3:chr1 g.121485307T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485312 rs6671305 C T 1430 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4429;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2627 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,D:4429:3298:0:4:37,3796,21,574,1:978,123872,536,18930,29:31.78,0.00,13.84,1430.09,0.00:19.87,0.00,7.01,850.93,0.00:11.92,0.00,6.84,579.16,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:165.1,137.3,200.3,166.6,110.0:0,12,0,0,0:0,0,0,0,0:84,73,71,81,82:66,65,68,60,69:30,27,18,28,0:-,chr1 g.121485311C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485333 rs4115044 A G 1003 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4110;DB;DBA=NA;PAF=NA;NP=15;NP=2128;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:4110:2874:0:1:3611,12,434,53:118015,267,13925,1602:0.00,3.70,1002.69,68.96:0.00,2.91,540.16,38.11:0.00,0.79,462.53,30.85:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:132.1,178.2,174.1,191.8:0,0,0,0:0,0,0,0:88,91,93,90:52,43,47,50:25,24,28,39:-,chr1 g.121485332A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485376 rs28970427 C A 685 nt VT=SNV;PN=C;NN=T;SST=Single;DP=2570;DB;DBA=NA;PAF=NA;NP=1;NP=2857 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:2570:1708:0:6:287,2042,16,220,5:9254,64695,300,7076,147:685.10,0.00,5.54,499.71,2.25:391.51,0.00,2.91,272.55,0.21:293.59,0.00,2.62,227.16,2.04:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,60,60:135.1,120.5,165.9,187.5,171.2:12,5,0,0,0:0,0,0,0,0:106,116,115,110,146:36,29,31,33,5:25,19,19,21,0:chr1 g.121485375C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485379 rs6600660 C T 5258 nt VT=SNV;PN=C;NN=T;SST=Single;DP=2443;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3240 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:2443:1600:0:0:12,818,17,1596:251,26228,337,51692:6.58,0.00,10.80,5258.30:2.41,0.00,5.13,2839.61:4.17,0.00,5.67,2418.69:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:107.1,89.9,132.2,147.3:0,6,0,1:0,0,0,0:110,110,111,118:40,32,37,27:22,24,21,17:-,chr1 g.121485378C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485387 rs7413559 C T 487 nt VT=SNV;PN=C;NN=T;SST=Single;DP=2154;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:2154:1433:0:0:21,1910,10,213:619,60536,224,6847:23.64,0.00,4.62,487.12:17.76,0.00,2.10,293.02:5.88,0.00,2.52,194.10:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:141.2,123.4,143.4,129.7:0,1,0,0:0,0,0,0:124,120,113,114:26,25,28,32:18,18,13,23:-,chr1 g.121485386C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485398 rs28970447 A G 323 nt VT=SNV;PN=A;NN=C;SST=Single;DP=1680;DB;DBA=NA;PAF=NA;NP=528 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1680:1093:0:0:1523,4,144,9:46503,45,4665,176:0.00,-1.20,322.97,2.20:0.00,-0.71,174.91,1.72:0.00,-0.49,148.05,0.48:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:114.4,119.8,178.5,199.3:3,0,0,0:0,0,0,0:124,122,115,107:21,26,29,37:17,13,20,13:-,chr1 g.121485397A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 121485416 rs6605018 C A 874 nt VT=SNV;PN=T;NN=T;SST=Single;DP=952;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2143 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:952:623:0:0:322,601,18,11:9796,19693,555,176:873.69,0.00,28.84,2.76:444.13,0.00,10.73,3.14:429.56,0.00,18.11,-0.38:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,58,60:149.0,105.4,150.1,131.0:0,0,0,0:0,0,0,0:129,124,130,125:16,19,19,18:11,14,6,12:chr1 g.121485415C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 121485435 . N C,T 88 end,nt VT=SNV;PN=C;NN=N;SST=Single;DP=40;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:C,T:40:19:0:0:15,25:479,812:48.67,88.01:17.18,34.79:31.49,53.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:220.4,129.0:0,0:0,0:134,150:1,1:2,0:chr1 g.121485434N>C (intergenic),chr1 g.121485434N>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 142535776 rs374272256 T G 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:G,T:5:4:0:0:2,3:69,98:6.39,0.00:3.04,0.00:3.36,0.00:0.46,0.00:0.87,0.00:0.80,0.00:51,60:204.5,11.3:0,0:0,0:67,105:55,46:16,23:chr1 g.142535775T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142538337 . C G 7 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,G:4:1:0:0:2,2:47,70:0.00,6.76:0.00,-0.30:0.00,7.06:0.00,0.51:0.00,0.67:0.00,0.89:60,40:211.0,241.0:0,0:0,0:57,116:94,-5:20,1:-,chr1 g.142538336C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142538352 . G A 10 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:1:0:0:3,1:99,35:10.35,0.00:3.75,0.00:6.60,0.00:0.85,0.00:0.83,0.00:0.99,0.00:60,60:247.0,163.0:0,0:0,0:130,52:-19,99:2,0:chr1 g.142538351G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142538795 rs373917220 T A 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,T:4:4:0:0:2,2:66,51:6.35,0.00:4.66,0.00:1.69,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:75.5,32.0:0,0:0,0:25,82:83,63:10,25:chr1 g.142538794T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142538898 rs374604019 G C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=128 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:C,G:6:4:0:0:3,3:80,98:7.61,0.00:2.87,0.00:4.73,0.00:0.73,0.00:0.51,0.00:0.51,0.00:60,60:204.7,157.0:0,1:0,0:62,88:69,28:42,35:chr1 g.142538897G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142538933 rs373701428 A G 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:2:0:0:1,3:34,105:0.00,10.95:0.00,5.93:0.00,5.03:0.00,0.85:0.00,0.95:0.00,0.99:13,60:124.0,246.7:0,0:0,0:97,123:34,16:0,16:-,chr1 g.142538932A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142582354 rs201996684 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:4:3:0:0:2,2:68,70:0.00,6.75:0.00,3.38:0.00,3.38:0.00,0.51:0.00,0.89:0.00,0.89:60,42:4.5,190.5:0,0:0,0:62,64:88,70:2,0:-,chr1 g.142582353C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142582370 rs76044877 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=27;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:5:3:0:0:2,3:63,87:0.00,8.67:0.00,3.73:0.00,4.94:0.00,0.78:0.00,0.94:0.00,0.94:60,42:4.5,198.3:0,0:0,0:78,80:72,48:2,0:-,chr1 g.142582369A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142586954 rs6600630 T C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:3:0:0:2,2:69,66:6.65,0.00:3.22,0.00:3.43,0.00:0.51,0.00:0.89,0.00:0.79,0.00:40,59:88.0,4.5:0,0:0,0:13,100:137,29:8,4:chr1 g.142586953T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142599482 rs61807521 A C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=289;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,C:5:4:0:0:2,3:43,105:0.00,10.49:0.00,8.94:0.00,1.55:0.00,0.78:0.00,0.97:0.00,0.87:60,45:31.0,159.3:1,0:0,0:33,44:117,88:26,3:-,chr1 g.142599481A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142599486 rs148384281 G A,C 7 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=9;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:2:A,C,G,D:5:4:0:1:2,1,1,1:67,35,35,32:6.64,3.18,0.00,2.88:5.12,3.28,0.00,2.98:1.52,-0.10,0.00,-0.10:0.46,0.00,0.00,0.00:0.87,0.00,0.00,0.00:0.70,0.00,0.00,0.00:45,17,60,39:154.0,170.0,11.0,51.0:2,1,0,0:0,0,0,0:46,105,11,64:93,46,140,87:1,0,0,0:chr1 g.142599485G>A (intergenic),chr1 g.142599485G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 142599488 . C CAG 7 nt VT=INS;SST=Single;DP=4;NP=18;PC=0.027;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CAG:4:3:2:1:2,2:66,68:0.00,6.55:0.00,5.06:0.00,1.49:0.00,0.51:0.00,0.89:0.00,0.79:60,45:90.5,154.0:1,0:0,0:60,48:91,91:47,1:-,chr1 g.142599488_142599489insAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142620901 rs2992188 A G 9 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G:5:5:0:0:2,3:46,90:0.00,8.98:0.00,8.98:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,51:0.0,135.7:0,0:0,0:112,4:38,145:19,3:-,chr1 g.142620900A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142620975 rs61806579 T G 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.130 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:G,T:8:7:0:0:6,2:161,67:16.94,0.00:15.85,0.00:1.09,0.00:1.00,0.00:1.00,0.00:0.83,0.00:56,58:93.8,62.0:0,0:0,0:28,78:122,72:16,51:chr1 g.142620974T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142621095 rs4241034 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.084 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,T:11:6:0:0:8,3:250,97:25.99,0.00:11.18,0.00:14.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,56:52.1,0.0:0,0:0,0:96,28:53,122:20,20:chr1 g.142621094T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142647180 rs10437307 G A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:4:3:0:0:2,2:69,72:6.65,0.00:3.02,0.00:3.63,0.00:0.51,0.00:0.89,0.00:0.79,0.00:52,60:83.5,0.0:0,0:0,0:49,91:100,37:3,40:chr1 g.142647179G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142647234 rs147415018 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:3:0:1:2,2:70,66:0.00,6.35:0.00,4.91:0.00,1.44:0.00,0.51:0.00,0.89:0.00,0.79:60,52:0.0,135.5:0,1:0,0:116,56:12,91:11,47:-,chr1 g.142647233C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142647272 rs10437305 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=422 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:7:6:0:0:2,5:67,166:0.00,17.17:0.00,9.90:0.00,7.26:0.00,0.98:0.00,1.00:0.00,0.98:40,52:23.0,105.4:0,0:0,0:78,47:50,98:65,36:-,chr1 g.142647271C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142647289 rs61805367 C G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=302 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:5:5:0:0:2,3:68,106:0.00,10.57:0.00,6.76:0.00,3.80:0.00,0.78:0.00,0.78:0.00,0.87:53,45:57.0,138.7:2,0:0,0:22,44:128,106:7,16:-,chr1 g.142647288C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142647291 rs4504906 G T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=51 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:1:4:140:15.91:11.88:4.03:1.00:1.00:1.00:45:115.5:1:0:39:104:8:chr1 g.142647290G>T (intergenic),chr1 g.142647290G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 142647305 rs145988756 G GT 7 sb,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=93;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:G,GT:7:7:3:0:4,3:140,74:0.00,6.72:0.00,4.84:0.00,1.88:0.00,0.69:0.00,0.69:0.00,0.93:53,45:37.2,120.0:0,0:0,0:21,60:101,90:9,16:-,chr1 g.142647305_142647306insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142689910 rs201076097 T TC 13 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.003;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:T,TC:8:8:5:0:3,5:100,129:0.00,12.89:0.00,13.31:0.00,-0.43:0.00,0.97:0.00,0.97:0.00,0.88:53,40:0.0,36.8:0,0:0,0:77,94:63,57:27,33:-,chr1 g.142689910_142689911insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142712772 rs9629172 T G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=10;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:G,T:38:35:0:0:4,34:117,1033:8.09,0.00:8.23,0.00:-0.14,0.00:0.60,0.00:0.93,0.00:0.34,0.00:40,40:69.8,22.6:0,0:0,0:23,66:128,84:9,38:NR_046228.1(ANKRD20A12P) n.645+189A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 142712775 rs201554815 G A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:A,G:37:35:0:0:3,34:97,1088:6.61,0.00:6.69,0.00:-0.07,0.00:0.38,0.00:0.86,0.00:0.30,0.00:24,40:93.0,21.4:0,0:0,0:15,66:130,84:4,37:NR_046228.1(ANKRD20A12P) n.645+186C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142712796 . G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:48:46:0:0:5,43:170,1211:12.44,0.00:12.56,0.00:-0.12,0.00:0.73,0.00:0.97,0.00:0.34,0.00:24,40:94.4,19.7:0,0:0,0:25,54:126,95:15,46:NR_046228.1(ANKRD20A12P) n.645+165C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142712851 . CT C 34 nt VT=DEL;SST=Single;DP=96;PC=0.008;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:96:88:0:19:77,19:2486,453:0.00,33.66:0.00,34.52:0.00,-0.86:0.00,1.00:0.00,1.00:0.00,0.84:40,25:18.4,70.7:0,0:0,0:40,46:111,102:22,15:-,NR_046228.1(ANKRD20A12P) n.645+109delA:-,NOT_FOUND:-,NOT_FOUND 1 142712852 rs202048282 T C 29 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=15;PC=0.008;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:77:69:0:19:13,64:378,2073:28.85,0.00:29.58,0.00:-0.72,0.00:1.00,0.00:1.00,0.00:0.79,0.00:40,40:53.9,11.2:0,0:0,0:48,39:103,111:29,22:NR_046228.1(ANKRD20A12P) n.645+109A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 142712877 . A C 46 nt VT=SNV;PN=C;NN=A;SST=Single;DP=116;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:116:102:0:0:96,19,1:2977,594,21:0.00,46.12,0.26:0.00,47.20,0.32:0.00,-1.08,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.86,0.00:40,25,22:15.7,73.2,82.0:0,0,0:0,0,0:55,71,32:95,80,113:26,18,0:-,NR_046228.1(ANKRD20A12P) n.645+84T>G:-,NOT_FOUND:-,NOT_FOUND 1 142712926 rs199615215 A G 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=162;DB;DBA=NA;PAF=NA;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:162:142:0:0:129,33:4046,1008:0.00,81.03:0.00,71.16:0.00,9.88:0.00,1.00:0.00,1.00:0.00,0.99:40,25:13.4,57.4:0,0:0,0:67,64:83,86:35,40:-,NR_046228.1(ANKRD20A12P) n.645+35T>C:-,NOT_FOUND:-,NOT_FOUND 1 142713030 . C T 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=180;NP=7;PC=0.571;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:180:76:0:0:154,26:5132,852:0.00,65.35:0.00,11.86:0.00,53.49:0.00,1.00:0.00,1.00:0.00,1.00:43,40:26.2,37.3:0,0:0,0:82,79:67,70:21,33:-,NR_046228.1(ANKRD20A12P) n.576G>A:-,NOT_FOUND:-,NOT_FOUND 1 142713055 rs55906269 A T 84 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:177:44:0:0:145,32:4685,1050:0.00,83.99:0.00,-2.99:0.00,86.98:0.00,1.00:0.00,1.00:0.00,1.00:43,24:29.0,38.2:0,0:0,0:87,123:63,27:25,4:-,NR_046228.1(ANKRD20A12P) n.551T>A:-,NOT_FOUND:-,NOT_FOUND 1 142713061 rs200504032 T G 91 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=179;DB;DBA=NA;PAF=NA;PC=0.849;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:179:42:0:0:1,33,145:11,1120,4685:-0.30,90.69,0.00:-0.09,-1.28,0.00:-0.21,91.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,25,43:61.0,56.3,23.5:0,0,0:0,0,0:7,106,108:144,44,43:0,25,21:NR_046228.1(ANKRD20A12P) n.545A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 142713119 . C T 40 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=93;PC=0.209;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:93:28:0:0:77,16:2575,505:0.00,39.60:0.00,1.17:0.00,38.43:0.00,1.00:0.00,0.98:0.00,1.00:52,25:32.1,81.9:0,0:0,0:89,131:62,19:34,10:-,NR_046228.1(ANKRD20A12P) n.487G>A:-,NOT_FOUND:-,NOT_FOUND 1 142713152 rs2494809 T G 182 nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,G,T:64:15:0:0:1,55,8:5,1663,255:-0.02,181.97,0.00:-0.01,41.29,0.00:-0.01,140.67,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,52,24:80.0,39.1,83.1:0,0,0:0,0,0:78,90,140:73,60,10:0,27,5:NR_046228.1(ANKRD20A12P) n.454A>C,-:0.54,-:NOT_FOUND,- 1 142713370 rs201282489 G A 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=0.477;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:A,G:36:20:0:0:3,33:94,1078:6.35,0.00:2.04,0.00:4.31,0.00:0.39,0.00:0.71,0.00:0.69,0.00:24,55:112.3,35.8:0,0:0,0:18,71:133,80:5,36:NR_046228.1(ANKRD20A12P) n.236C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142713381 rs61805270 A G 129 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:21:0:0:36:1115:128.52:67.25:61.27:1.00:1.00:1.00:55:51.2:0:0:61:88:34:NR_046228.1(ANKRD20A12P) n.225T>C,NR_046228.1(ANKRD20A12P) n.225T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 142713407 rs200984414 C T 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=345;PC=0.001;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:29:0:0:33,9:1107,298:0.00,24.62:0.00,17.91:0.00,6.71:0.00,0.99:0.00,1.00:0.00,0.96:55,43:41.9,73.1:0,0:0,0:71,20:79,129:39,15:-,NR_046228.1(ANKRD20A12P) n.199G>A:-,NOT_FOUND:-,NOT_FOUND 1 142713427 rs552915502 C T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=2;PC=0.104;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,T:51:38:0:0:46,5:1497,156:0.00,10.89:0.00,8.52:0.00,2.36:0.00,0.72:0.00,0.93:0.00,0.71:55,24:33.9,246.8:0,0:0,0:60,18:90,130:37,10:-,NR_046228.1(ANKRD20A12P) n.179G>A:-,NOT_FOUND:-,NOT_FOUND 1 142713464 rs201791047 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.985;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G:62:50:0:0:5,57:164,1713:11.26,0.00:9.06,0.00:2.20,0.00:0.69,0.00:0.94,0.00:0.73,0.00:24,55:246.8,25.7:0,0:0,0:55,52:93,97:10,26:NR_046228.1(ANKRD20A12P) n.142C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142713468 . T C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=63;PC=0.996;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T:63:53:0:0:5,58:170,1887:11.80,0.00:9.83,0.00:1.98,0.00:0.68,0.00:0.94,0.00:0.69,0.00:24,51:246.8,22.5:0,0:0,0:59,53:89,93:10,27:NR_046228.1(ANKRD20A12P) n.138A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 142713482 . T A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=66;PC=0.001;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,T:66:57:0:0:5,61:164,2001:11.10,0.00:8.87,0.00:2.23,0.00:0.68,0.00:0.95,0.00:0.64,0.00:24,51:246.8,20.0:0,0:0,0:73,56:75,92:10,28:NR_046228.1(ANKRD20A12P) n.124A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142713521 . G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;PC=0.002;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,G,T:72:59:0:0:6,65,1:188,2108,12:12.75,0.00,-0.19:10.83,0.00,-0.30:1.91,0.00,0.11:0.79,0.00,0.00:0.97,0.00,0.00:0.73,0.00,0.00:24,43,24:222.8,14.5,52.0:0,0,0:0,0,0:111,76,21:36,71,129:10,30,0:NR_046228.1(ANKRD20A12P) n.85C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142713546 rs201799719 C G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=404;PC=0.788;Gene=ANKRD20A12P/NR_046228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:79:64:0:0:68,11:2284,376:0.00,29.01:0.00,23.03:0.00,5.98:0.00,0.99:0.00,1.00:0.00,0.92:43,42:19.1,51.2:0,0:0,0:74,104:76,47:44,40:-,NR_046228.1(ANKRD20A12P) n.60G>C:-,NOT_FOUND:-,NOT_FOUND 1 142713705 rs12161232 C G 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=622;PC=0.952 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:112:67:0:0:1,92,19:11,3052,604:-0.25,0.00,47.44:-0.21,0.00,12.84:-0.04,0.00,34.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:54,60,40:72.0,7.5,67.9:0,0,0:0,0,0:12,61,98:138,89,52:0,36,29:-,NR_046228.1(ANKRD20A12P) n.-100G>C:-,NOT_FOUND:-,NOT_FOUND 1 142713867 rs200957757 C G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=1434 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,G:103:39:0:0:91,12:2767,358:0.00,25.64:0.00,6.41:0.00,19.23:0.00,0.99:0.00,0.97:0.00,1.00:60,43:12.1,88.8:0,0:0,0:87,80:63,69:27,17:-,NR_046228.1(ANKRD20A12P) n.-262G>C:-,NOT_FOUND:-,NOT_FOUND 1 142713931 rs75994571 T A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=751 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,T:69:8:0:0:10,59:258,1849:18.27,0.00:1.23,0.00:17.04,0.00:0.99,0.00:0.67,0.00:0.99,0.00:43,60:123.1,12.6:0,0:0,0:97,108:52,41:30,31:NR_046228.1(ANKRD20A12P) n.-326A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142713944 rs199960649 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,T:59:4:0:0:51,8:1371,259:0.00,19.57:0.00,1.51:0.00,18.06:0.00,0.95:0.00,0.45:0.00,0.95:60,27:12.6,128.6:0,0:0,0:95,99:56,50:34,20:-,NR_046228.1(ANKRD20A12P) n.-339G>A:-,NOT_FOUND:-,NOT_FOUND 1 142713956 rs12161184 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:54:3:0:0:7,47:206,1529:14.91,0.00:1.19,0.00:13.72,0.00:0.92,0.00:0.40,0.00:0.92,0.00:27,60:128.7,10.3:0,0:0,0:100,100:49,49:16,33:NR_046228.1(ANKRD20A12P) n.-351C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142713976 rs140223576 CT C 8 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,CT,C:42:0:0:6:1,35,6:8,1156,128:-0.24,0.00,8.32:0.00,0.00,0.00:-0.24,0.00,8.32:0.00,0.00,0.87:0.00,0.00,0.00:0.00,0.00,0.87:60,60,27:30.0,13.1,120.2:0,0,0:0,0,0:83,104,114:68,46,35:0,23,17:-,NR_046228.1(ANKRD20A12P) n.-372delA:-,NOT_FOUND:-,NOT_FOUND 1 142714752 rs61805274 C G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:4:0:0:1,3:35,76:0.00,8.05:0.00,8.05:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:50,40:0.0,157.0:0,0:0,0:23,48:128,102:0,33:-,NR_046228.1(ANKRD20A12P) n.-1147G>C:-,NOT_FOUND:-,NOT_FOUND 1 142714783 rs4568849 A C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,C:6:6:0:0:3,3:97,98:0.00,9.42:0.00,9.42:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:50,40:12.3,182.3:0,0:0,0:22,46:129,104:12,22:-,NR_046228.1(ANKRD20A12P) n.-1178T>G:-,NOT_FOUND:-,NOT_FOUND 1 142714829 rs374244356 T A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,C,T:10:10:0:0:3,1,6:97,10,200:8.63,0.28,0.00:8.63,0.28,0.00:0.00,0.00,0.00:0.62,0.00,0.00:0.62,0.00,0.00:0.00,0.00,0.00:40,23,50:182.3,118.0,6.2:0,0,0:0,0,0:92,45,45:58,106,104:22,0,18:NR_046228.1(ANKRD20A12P) n.-1224A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142714865 . T A 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,T:14:14:0:0:4,10:99,308:8.17,0.00:8.17,0.00:0.00,0.00:0.77,0.00:0.77,0.00:0.00,0.00:25,50:180.5,10.5:0,0:0,0:93,56:57,93:24,33:NR_046228.1(ANKRD20A12P) n.-1260A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142714870 . T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,C,T:15:15:0:0:1,3,11:11,101,337:0.18,8.37,0.00:0.18,8.37,0.00:0.00,0.00,0.00:0.00,0.55,0.00:0.00,0.55,0.00:0.00,0.00,0.00:9,25,50:199.0,174.3,9.5:0,0,0:0,0,0:13,111,50:138,40,100:0,22,31:NR_046228.1(ANKRD20A12P) n.-1265A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 142714871 . G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:15:15:0:0:4,11:91,347:7.23,0.00:7.23,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:25,50:180.5,9.5:0,0:0,0:99,51:51,99:24,31:NR_046228.1(ANKRD20A12P) n.-1266C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142714916 . G C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:C,G:19:19:0:0:3,16:88,508:6.64,0.00:6.64,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:23,50:152.7,5.1:0,0:0,0:59,51:92,99:35,30:NR_046228.1(ANKRD20A12P) n.-1311C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 142715045 rs2944907 A C 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C:39:35:0:0:34,5:1117,166:0.00,12.50:0.00,9.84:0.00,2.66:0.00,0.77:0.00,0.97:0.00,0.65:51,40:4.8,71.2:0,0:0,0:45,47:105,103:30,37:-,NR_046228.1(ANKRD20A12P) n.-1440T>G:-,NOT_FOUND:-,NOT_FOUND 1 142715081 rs200905610 T C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,T:48:35:0:0:5,43:176,1383:13.02,0.00:4.51,0.00:8.51,0.00:0.73,0.00:0.93,0.00:0.75,0.00:25,50:126.2,5.3:0,0:0,0:34,56:117,95:12,26:NR_046228.1(ANKRD20A12P) n.-1476A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 142715089 rs199960496 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,G:51:35:0:0:46,5:1549,147:0.00,10.00:0.00,2.40:0.00,7.59:0.00,0.72:0.00,0.92:0.00,0.80:50,25:4.9,126.2:0,0:0,0:60,42:90,109:32,12:-,NR_046228.1(ANKRD20A12P) n.-1484T>C:-,NOT_FOUND:-,NOT_FOUND 1 142715114 rs373972013 T C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:32:0:0:9,45:308,1445:24.53,0.00:11.09,0.00:13.44,0.00:0.98,0.00:0.99,0.00:0.99,0.00:40,42:137.4,3.2:0,0:0,0:43,48:108,102:30,33:NR_046228.1(ANKRD20A12P) n.-1509A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 142715181 rs367635889 AT A 13 rn VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=0.676;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:AT,A:71:36:0:9:62,9:1934,205:0.00,13.17:0.00,3.88:0.00,9.28:0.00,0.97:0.00,0.97:0.00,0.98:42,40:11.4,153.4:0,0:0,0:76,80:74,68:26,30:-,NR_046228.1(ANKRD20A12P) n.-1577delA:-,NOT_FOUND:-,NOT_FOUND 1 142715210 . T C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;NP=1;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,T:64:27:0:0:8,56:255,1841:18.88,0.00:3.72,0.00:15.16,0.00:0.95,0.00:0.92,0.00:0.99,0.00:40,40:180.0,10.7:0,0:0,0:107,87:44,64:18,23:NR_046228.1(ANKRD20A12P) n.-1605A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 142715220 rs139632932 C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:62:26:0:0:54,8:1781,262:0.00,19.67:0.00,4.84:0.00,14.83:0.00,0.95:0.00,0.92:0.00,0.99:50,40:13.5,190.5:0,0:0,0:94,77:56,73:27,41:-,NR_046228.1(ANKRD20A12P) n.-1615G>A:-,NOT_FOUND:-,NOT_FOUND 1 142715240 . T G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=53;NP=1;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:G,T:53:22:0:0:6,47:209,1525:15.64,0.00:3.46,0.00:12.17,0.00:0.84,0.00:0.85,0.00:0.97,0.00:40,50:196.0,12.3:0,0:0,0:97,108:53,40:39,27:NR_046228.1(ANKRD20A12P) n.-1635A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 142715243 . G A 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=53;PC=0.924 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,G:53:23:0:0:7,46:225,1451:16.87,0.00:4.75,0.00:12.12,0.00:0.92,0.00:0.91,0.00:0.99,0.00:40,51:193.4,13.0:0,0:0,0:94,112:57,36:35,23:NR_046228.1(ANKRD20A12P) n.-1638C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142715263 . T G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;PC=0.957 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:G,T:42:20:0:0:5,37:151,1198:10.87,0.00:0.78,0.00:10.09,0.00:0.76,0.00:0.84,0.00:0.94,0.00:24,51:205.0,20.7:0,0:0,0:83,111:63,38:24,26:NR_046228.1(ANKRD20A12P) n.-1658A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 142715279 rs79707359 A G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=270 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:11:0:0:26,8:826,246:0.00,20.37:0.00,5.23:0.00,15.14:0.00,0.98:0.00,0.91:0.00,1.00:50,51:41.1,60.0:0,0:0,0:97,89:52,62:40,4:-,NR_046228.1(ANKRD20A12P) n.-1674T>C:-,NOT_FOUND:-,NOT_FOUND 1 142715280 rs79565180 A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=267 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:34:10:0:0:26,8:831,231:0.00,18.87:0.00,5.19:0.00,13.67:0.00,0.98:0.00,0.89:0.00,1.00:50,51:47.1,62.1:0,0:0,0:100,87:47,63:37,4:-,NR_046228.1(ANKRD20A12P) n.-1675T>C:-,NOT_FOUND:-,NOT_FOUND 1 142715285 rs199881507 C T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:32:9:0:0:26,6:906,195:0.00,15.66:0.00,1.03:0.00,14.62:0.00,0.89:0.00,0.80:0.00,0.99:51,24:20.9,187.5:0,0:0,0:92,103:58,45:31,27:-,NR_046228.1(ANKRD20A12P) n.-1680G>A:-,NOT_FOUND:-,NOT_FOUND 1 142715348 rs199969975 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:27:0:0:0:4,23:134,780:10.39,0.00:0.00,0.00:10.39,0.00:0.66,0.00:0.00,0.00:0.66,0.00:25,51:142.5,5.7:0,0:0,0:86,60:64,91:29,45:NR_046228.1(ANKRD20A12P) n.-1743C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 142716436 rs2460282 C G 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:307:34.99:34.99:0.00:1.00:1.00:0.00:56:60.8:0:0:33:117:16:NR_046228.1(ANKRD20A12P) n.-2831G>C,NR_046228.1(ANKRD20A12P) n.-2831G>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 142716517 rs2494810 C G 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:597:68.72:68.72:0.00:1.00:1.00:0.00:57:52.8:0:0:74:76:33:NR_046228.1(ANKRD20A12P) n.-2912G>C,NR_046228.1(ANKRD20A12P) n.-2912G>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 142726905 rs10453893 A G 23 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;NP=88;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,G:114:94:0:0:103,11:3299,334:0.00,23.08:0.00,24.75:0.00,-1.67:0.00,0.99:0.00,1.00:0.00,0.98:60,40:7.5,89.3:0,0:0,0:54,26:94,113:27,20:-,chr1 g.142726904A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142726970 rs10453894 A G 22 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=1;NP=203;PC=0.507 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G:121:85:0:0:109,12:3682,335:0.00,22.34:0.00,24.88:0.00,-2.54:0.00,0.99:0.00,1.00:0.00,1.00:60,40:5.4,95.4:0,0:0,0:79,78:63,72:37,15:-,chr1 g.142726969A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142727018 rs72995781 G A 43 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=0.107 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:122:80:0:0:19,103:571,3431:43.31,0.00:44.32,0.00:-1.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:88.0,6.9:0,0:0,0:45,72:89,75:42,37:chr1 g.142727017G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142727090 rs112164832 G A 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:128:74:0:0:20,108:633,3659:48.79,0.00:33.07,0.00:15.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,60:97.9,14.6:0,0:0,0:71,92:79,59:32,34:chr1 g.142727089G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142727161 rs10453897 C T 78 nt VT=SNV;PN=T;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=1176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:90:32:0:0:1,62,27:11,1906,890:-0.16,0.00,78.22:-0.07,0.00,30.37:-0.09,0.00,47.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:99.0,3.9,134.4:0,0,0:0,0,0:86,117,88:42,33,62:0,15,30:-,chr1 g.142727160C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142727163 rs79437463 A G 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=1228;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:90:32:0:0:68,22:2215,686:0.00,57.37:0.00,10.90:0.00,46.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.5,124.5:0,0:0,0:116,88:34,62:17,29:-,chr1 g.142727162A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142727204 rs10453899 A G 79 nt VT=SNV;PN=G;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=1453;NP=2;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:4:0:0:42,27:1187,862:0.00,79.03:0.00,-0.65:0.00,79.68:0.00,1.00:0.00,0.86:0.00,1.00:60,60:17.9,108.0:0,0:0,0:79,75:71,76:43,45:-,chr1 g.142727203A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142727234 rs4300239 A C 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=1459 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:57:0:0:0:32,22,3:954,671,78:0.00,61.74,4.80:0.00,0.00,0.00:0.00,61.74,4.80:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,24:16.8,94.8,76.0:0,0,0:0,0,0:88,71,9:62,77,139:26,22,5:-,chr1 g.142727233A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142727299 rs6679470 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=164 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,T:36:0:0:0:31,5:978,159:0.00,12.00:0.00,0.00:0.00,12.00:0.00,0.78:0.00,0.00:0.00,0.78:60,40:45.8,76.2:0,0:0,0:117,69:28,80:13,7:-,chr1 g.142727298C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142727426 rs6684327 A G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=19;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,C,G:9:0:0:0:3,1,5:96,12,156:0.00,0.61,15.64:0.00,0.00,0.00:0.00,0.61,15.64:0.00,0.00,0.96:0.00,0.00,0.00:0.00,0.00,0.96:50,40,40:12.3,12.0,73.0:0,0,0:0,0,0:93,96,104:58,55,47:19,0,22:-,chr1 g.142727425A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142729515 rs149395761 T C 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=68 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:5:0:0:2,3:69,78:6.40,0.00:6.51,0.00:-0.11,0.00:0.46,0.00:0.46,0.00:0.60,0.00:40,40:131.5,44.7:0,0:0,0:25,59:125,52:5,4:chr1 g.142729514T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729551 rs7416507 C A 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=123;PC=0.511 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,C:6:6:0:0:4,2:132,69:13.45,0.00:8.10,0.00:5.35,0.00:0.93,0.00:0.93,0.00:0.97,0.00:40,40:83.8,30.0:0,1:0,0:52,52:98,78:9,43:chr1 g.142729550C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729619 rs146368879 G A 23 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=6;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:13:10:0:0:7,6:233,165:22.74,0.00:22.05,0.00:0.70,0.00:0.99,0.00:1.00,0.00:0.96,0.00:51,49:170.9,25.5:0,0:0,0:40,57:109,93:11,31:chr1 g.142729618G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729644 rs139842755 G T 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=7;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:17:13:0:0:7,10:195,301:0.00,29.89:0.00,27.50:0.00,2.39:0.00,1.00:0.00,1.00:0.00,0.97:49,51:30.0,183.7:0,0:0,0:65,55:86,94:35,18:-,chr1 g.142729643G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142729658 rs143270545 C G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,G,T:15:12:0:0:5,9,1:151,274,27:0.00,27.67,1.86:0.00,24.71,1.92:0.00,2.96,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.94,0.00:49,51,25:21.6,189.9,70.0:0,0,0:0,0,0:69,68,79:82,83,72:38,11,0:-,chr1 g.142729657C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142729677 . T G 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:G,T:14:12:0:0:9,5:289,146:29.23,0.00:26.50,0.00:2.74,0.00:1.00,0.00:1.00,0.00:0.89,0.00:51,49:189.9,27.6:0,0:0,0:87,88:64,63:11,13:chr1 g.142729676T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729678 . T A 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,T:13:12:0:0:8,5:260,122:26.08,0.00:26.50,0.00:-0.42,0.00:1.00,0.00:1.00,0.00:0.74,0.00:51,49:193.9,27.6:0,0:0,0:84,89:66,62:15,13:chr1 g.142729677T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729728 rs11510111 T A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,T:10:9:0:0:6,4:184,89:18.38,0.00:18.77,0.00:-0.40,0.00:0.99,0.00:1.00,0.00:0.73,0.00:51,49:206.3,34.5:0,0:0,0:121,132:20,18:13,12:chr1 g.142729727T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729753 . T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:C,T:4:4:0:0:3,1:99,21:10.36,0.00:10.36,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:40,43:241.0,57.0:0,0:0,0:131,126:16,3:4,0:chr1 g.142729752T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729763 rs61815244 A T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:105:12.40:12.40:0.00:1.00:1.00:0.00:40:227.0:0:0:81:66:62:chr1 g.142729762A>T (intergenic),chr1 g.142729762A>T (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 142729769 rs11510112 T C 13 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:111:13.00:13.00:0.00:1.00:1.00:0.00:23:244.0:0:0:5:145:2:chr1 g.142729768T>C (intergenic),chr1 g.142729768T>C (intergenic):0.06,0.06:NOT_FOUND,NOT_FOUND 1 142729789 . C T 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:11:11:0:0:2,9:44,286:0.00,30.64:0.00,28.69:0.00,1.94:0.00,1.00:0.00,1.00:0.00,0.88:29,40:32.0,237.4:0,0:0,0:14,19:137,132:0,3:-,chr1 g.142729788C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142729790 . C G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,G:11:11:0:0:2,9:64,272:0.00,29.18:0.00,27.79:0.00,1.39:0.00,1.00:0.00,1.00:0.00,0.88:29,40:32.0,232.6:0,0:0,0:15,18:136,133:0,2:-,chr1 g.142729789C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142729800 rs2946251 A G 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=405;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:12:0:0:12:322:37.75:34.58:3.18:1.00:1.00:1.00:40:182.3:0:0:27:123:2:chr1 g.142729799A>G (intergenic),chr1 g.142729799A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 142729802 . G C 31 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:C,G:12:12:0:0:9,3:297,98:31.06,0.00:29.43,0.00:1.63,0.00:1.00,0.00:1.00,0.00:0.95,0.00:40,29:237.4,31.7:0,0:0,0:32,27:119,124:3,0:chr1 g.142729801G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729818 . A G 65 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;NP=440;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:24:24:0:0:4,20:129,603:0.00,65.09:0.00,61.58:0.00,3.51:0.00,1.00:0.00,1.00:0.00,1.00:29,52:23.8,162.5:0,0:0,0:35,18:115,124:8,15:-,chr1 g.142729817A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142729820 . T G 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;NP=803;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:G,T:24:24:0:0:19,5:619,167:65.48,0.00:61.95,0.00:3.53,0.00:1.00,0.00:1.00,0.00:0.99,0.00:52,29:162.5,51.4:0,0:0,0:21,29:120,121:16,16:chr1 g.142729819T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729889 rs10430210 T C 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2072;PC=0.695 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:45:0:0:40,16:1258,539:130.21,0.00:76.41,0.00:53.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,40:78.4,43.4:0,0:0,0:59,51:88,99:15,15:chr1 g.142729888T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729959 rs9329000 G A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=36;NP=634;PC=0.082 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:27:0:0:14,38:476,1165:41.14,0.00:11.89,0.00:29.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:42.9,41.6:0,0:0,0:106,95:45,55:18,28:chr1 g.142729958G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142729986 rs368657417 G T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=238;PC=0.119 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:39:6:0:0:30,9:1021,294:0.00,24.55:0.00,2.91:0.00,21.64:0.00,0.99:0.00,0.77:0.00,1.00:40,40:33.6,68.2:0,0:0,0:110,116:40,35:22,25:-,chr1 g.142729985G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142730057 rs368228948 G A 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=194;PC=0.291 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:372:42.45:0.00:42.45:1.00:0.00:1.00:24:62.0:0:0:108:43:31:chr1 g.142730056G>A (intergenic),chr1 g.142730056G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 142730110 . T C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;NP=64 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T:7:0:0:0:6,1:176,11:19.28,0.00:0.00,0.00:19.28,0.00:1.00,0.00:0.00,0.00:1.00,0.00:25,25:72.5,147.0:0,0:0,0:113,19:37,132:23,0:chr1 g.142730109T>C (intergenic),chr1 g.142730109T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 142803173 rs145171593 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=142 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:C,T:12:12:0:0:7,5:216,143:0.00,13.11:0.00,13.11:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:61.0,71.4:0,0:0,0:37,55:113,96:19,4:-,chr1 g.142803172C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142803199 . G C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;NP=314;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:C,G:18:18:0:0:3,15:103,466:8.21,0.00:6.66,0.00:1.55,0.00:0.52,0.00:0.52,0.00:0.45,0.00:60,60:112.0,62.7:0,0:0,0:53,63:98,87:1,34:chr1 g.142803198G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803200 rs3883772 A G 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,G:18:18:0:0:11,7:358,178:0.00,15.86:0.00,14.08:0.00,1.78:0.00,0.98:0.00,0.98:0.00,0.59:60,60:49.8,109.1:0,0:0,0:78,29:71,120:28,23:-,chr1 g.142803199A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142803228 . T C 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:22:22:0:0:3,19:103,534:7.94,0.00:7.97,0.00:-0.03,0.00:0.48,0.00:0.48,0.00:0.42,0.00:40,60:208.7,64.2:0,0:0,0:16,78:134,72:0,32:chr1 g.142803227T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803240 rs76010818 G A 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,G:24:24:0:0:3,21:88,569:6.32,0.00:6.35,0.00:-0.03,0.00:0.47,0.00:0.47,0.00:0.42,0.00:40,60:208.7,68.0:0,0:0,0:28,61:122,81:0,43:chr1 g.142803239G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803272 rs3088151 C G 15 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,G:24:24:0:0:19,5:621,175:0.00,14.56:0.00,14.61:0.00,-0.05:0.00,0.83:0.00,0.83:0.00,0.47:60,60:98.9,66.2:3,4:0,0:60,74:90,75:30,48:-,chr1 g.142803271C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142803275 rs145869340 AAAC A 11 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=41;PC=0.018;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:AAAC,I,A:24:24:3:4:17,3,4:513,95,133:0.00,7.24,10.76:0.00,7.27,10.80:0.00,-0.03,-0.04:0.00,0.00,0.68:0.00,0.00,0.68:0.00,0.00,0.45:60,60,60:105.4,52.7,65.5:0,0,0:0,0,0:81,33,52:70,118,97:29,1,31:-,chr1 g.142803276_142803278delAAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142803281 rs76943323 C A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,C,G:27:27:0:0:3,23,1:99,777,13:7.29,0.00,0.11:7.32,0.00,0.12:-0.03,0.00,-0.01:0.44,0.00,0.00:0.44,0.00,0.00:0.41,0.00,0.00:40,60,52:208.7,79.0,43.0:0,4,0:0,0,0:69,58,145:81,93,5:0,29,0:chr1 g.142803280C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803302 rs79529551 C A 27 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,I:26:25:2:2:9,15,2:295,495,68:26.88,0.00,5.01:23.56,0.00,5.01:3.32,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:0.56,0.00,0.00:60,60,54:145.6,70.1,69.0:0,0,0:0,0,0:90,39,63:60,103,87:23,21,3:chr1 g.142803301C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803312 rs2039402 G C 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:29:28:0:0:1,17,11:9,576,366:0.06,57.56,0.00:0.06,53.92,0.00:0.00,3.65,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.72,0.00:35,60,60:33.0,113.3,60.7:0,0,0:0,0,0:116,85,30:35,66,120:0,15,19:chr1 g.142803311G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803363 rs61814263 T C 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:12,14:418,434:39.74,0.00:39.74,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:54,60:95.9,60.9:0,0:0,0:115,45:34,103:19,30:chr1 g.142803362T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803370 rs61814264 T G 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.049 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:26:0:0:10,16:297,502:26.93,0.00:26.93,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:84.0,72.7:0,0:0,0:36,103:105,44:14,30:chr1 g.142803369T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803394 rs61814265 A G 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=887;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G,D:21:21:0:1:5,15,1:143,449,25:0.00,47.12,1.56:0.00,47.12,1.56:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,51,25:2.4,89.9,287.0:0,0,0:0,0,0:86,97,15:65,54,135:25,34,0:-,chr1 g.142803393A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142803426 rs76497785 T C 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:39:0:0:26,18:781,559:77.58,0.00:69.96,0.00:7.61,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,60:71.8,31.5:0,0:0,0:10,77:139,73:7,38:chr1 g.142803425T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803436 rs74488233 T A 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:53:43:0:0:20,1,1,31:632,13,34,947:57.92,0.06,1.90,0.00:50.60,0.13,1.97,0.00:7.32,-0.07,-0.07,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.99,0.00,0.00,0.00:40,24,25,60:60.5,122.0,287.0,38.8:0,0,0,0:0,0,0,0:12,6,54,21:139,145,96,128:7,0,0,13:chr1 g.142803435T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142803580 rs144046594 TA T 64 rn VT=DEL;SST=Single;DP=190;DB;DBA=NA;PAF=NA;NP=952;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:190:138:0:30:160,30:5073,857:0.00,64.08:0.00,35.25:0.00,28.83:0.00,1.00:0.00,1.00:0.00,1.00:42,41:12.8,4.3:1,0:0,0:103,88:42,54:19,17:-,chr1 g.142803581delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142803746 rs371041896 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=61;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:37:0:0:0:31,6:1061,195:0.00,15.24:0.00,0.00:0.00,15.24:0.00,0.88:0.00,0.00:0.00,0.88:42,42:5.9,40.2:0,0:0,0:112,91:39,59:30,34:-,chr1 g.142803745A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142809965 rs112580790 G C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=206;NP=4;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,G,T:14:14:0:0:5,8,1:155,266,34:14.11,0.00,2.47:14.11,0.00,2.47:0.00,0.00,0.00:0.90,0.00,0.00:0.90,0.00,0.00:0.00,0.00,0.00:40,40,41:59.0,28.0,101.0:0,0,0:0,0,0:60,62,38:91,87,112:17,25,0:chr1 g.142809964G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142809996 rs61814282 T A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=105;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,T:12:12:0:0:3,9:102,241:8.71,0.00:8.71,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:41,40:71.7,38.9:0,0:0,0:84,79:67,63:1,25:chr1 g.142809995T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142810051 rs61814283 G A 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=219;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:16:16:0:0:4,12:109,370:8.91,0.00:8.91,0.00:0.00,0.00:0.75,0.00:0.75,0.00:0.00,0.00:41,50:76.5,45.1:0,0:0,0:131,53:19,76:8,19:chr1 g.142810050G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142810109 rs147642480 T A 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=279;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,T:17:17:0:0:13,4:422,139:44.33,0.00:44.33,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,50:39.5,0.0:0,0:0,0:57,51:93,99:43,21:chr1 g.142810108T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142810409 rs71213748 C T 47 nt VT=SNV;PN=G;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=3147;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:113:9:0:0:93,20:2938,603:0.00,47.00:0.00,2.75:0.00,44.25:0.00,1.00:0.00,0.78:0.00,1.00:56,51:19.5,40.2:0,0:0,0:76,90:75,61:31,20:-,chr1 g.142810408C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142810509 rs61814285 A T 118 nt VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:68:2:0:0:29,39:826,1200:0.00,118.45:0.00,7.27:0.00,111.18:0.00,1.00:0.00,0.85:0.00,1.00:55,57:45.7,48.3:0,0:0,0:107,107:42,44:29,20:-,chr1 g.142810508A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142810594 rs61814286 A G 27 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=81;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,G:10:0:0:0:2,8:67,255:0.00,27.14:0.00,0.00:0.00,27.14:0.00,1.00:0.00,0.00:0.00,1.00:54,42:23.5,58.1:0,0:0,0:116,140:34,9:30,2:-,chr1 g.142810593A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142812755 rs140672446 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:8:8:0:0:3,5:61,159:0.00,16.04:0.00,16.04:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:54,22:92.7,112.2:0,0:0,0:51,24:100,124:36,5:-,chr1 g.142812754A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142812790 rs78972126 T C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,T:15:15:0:0:11,4:357,93:37.23,0.00:37.23,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:25,54:87.5,69.5:0,0:0,0:26,66:124,85:22,37:chr1 g.142812789T>C (intergenic),-:0.14,-:NOT_FOUND,- 1 142812809 rs77465115 G A 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:36:0:0:16,20:513,540:48.25,0.00:48.25,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,54:68.4,26.2:0,0:0,0:21,12:128,138:12,10:chr1 g.142812808G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142812866 rs61814307 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:120:120:0:0:1,105,14:34,3198,476:1.42,0.00,35.57:1.42,0.00,35.57:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:25,52,24:34.0,20.9,92.8:0,0,0:0,0,0:33,43,28:117,108,122:0,21,7:-,chr1 g.142812865C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142812888 . G A 47 nt VT=SNV;PN=T;NN=G;SST=Single;DP=143;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:143:143:0:0:20,123:622,3896:46.69,0.00:46.69,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:31,52:113.2,15.1:0,0:0,0:42,55:109,95:13,22:chr1 g.142812887G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142812953 . G C 126 nt VT=SNV;PN=A;NN=A;SST=Single;DP=240;NP=3;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:240:239:0:0:50,188,2:1551,6129,20:125.91,0.00,-0.49:126.16,0.00,-0.48:-0.25,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:0.61,0.00,0.00:43,43,27:148.7,10.2,70.5:0,0,0:0,0,0:51,69,125:100,81,20:26,40,17:chr1 g.142812952G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142813004 . G T 167 nt VT=SNV;PN=A;NN=G;SST=Single;DP=354;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:354:321:0:0:291,63:9398,2084:0.00,166.55:0.00,126.91:0.00,39.64:0.00,1.00:0.00,1.00:0.00,1.00:42,43:16.9,159.7:0,0:0,0:37,50:114,101:26,29:-,chr1 g.142813003G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142813018 . G A 154 nt VT=SNV;PN=A;NN=C;SST=Single;DP=395;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:395:351:0:0:62,332,1:1987,11016,9:153.92,0.00,-0.41:114.15,0.00,-0.32:39.76,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,42,25:160.1,18.0,127.0:0,0,0:0,0,0:71,39,66:80,111,85:28,23,0:chr1 g.142813017G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142813022 rs202163182 G A 340 nt VT=SNV;PN=C;NN=A;SST=Single;DP=403;DB;DBA=NA;PAF=NA;NP=183 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:403:354:0:0:117,285,1:3897,8597,14:340.39,0.00,-0.19:257.39,0.00,-0.13:83.00,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,42,20:113.7,9.8,195.0:0,0,0:0,0,0:55,38,79:96,113,72:31,18,0:chr1 g.142813021G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142813024 . C T 153 nt VT=SNV;PN=A;NN=A;SST=Single;DP=412;PC=0.193 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:412:360:0:0:351,61:11518,1987:0.00,152.83:0.00,105.39:0.00,47.45:0.00,1.00:0.00,1.00:0.00,1.00:42,43:19.6,161.3:0,0:0,0:41,73:110,78:20,28:-,chr1 g.142813023C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142813116 . A G 249 nt VT=SNV;PN=C;NN=T;SST=Single;DP=758;NP=147 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:758:500:0:0:649,1,107,1:21498,25,3316,14:0.00,0.01,249.19,-0.25:0.00,0.13,138.96,-0.16:0.00,-0.13,110.23,-0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:42,25,42,40:23.0,87.0,44.5,36.0:0,0,0,0:0,0,0,0:74,146,64,3:77,5,87,148:36,0,27,0:-,chr1 g.142813115A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142813129 . G A 146 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=782;NP=3;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:782:503:0:1:64,715,3:2110,23404,32:145.75,0.00,-1.08:-7.59,0.00,-0.57:153.34,0.00,-0.51:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,40:108.4,15.7,50.0:0,0,0:0,0,0:99,74,129:51,76,22:31,36,6:chr1 g.142813128G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142813314 rs201459875 T G 109 nt VT=SNV;PN=G;NN=A;SST=Single;DP=213;DB;DBA=NA;PAF=NA;NP=26;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:213:0:0:0:2,42,169:23,1349,5307:-0.39,109.25,0.00:0.00,0.00,0.00:-0.39,109.25,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:40,40,40:16.5,38.0,9.3:0,0,0:0,0,0:97,121,101:54,29,50:53,17,32:chr1 g.142813313T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142813497 rs61814311 T A 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:31:0:0:0:19,12:558,352:55.80,0.00:0.00,0.00:55.80,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,40:52.6,24.3:0,0:0,0:92,60:59,76:43,44:chr1 g.142813496T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142823278 rs151301526 T C 19 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=245;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:14:13:0:0:6,1,7:204,10,230:19.35,0.23,0.00:19.60,0.26,0.00:-0.24,-0.03,0.00:0.96,0.00,0.00:1.00,0.00,0.00:0.62,0.00,0.00:15,13,58:49.7,75.0,3.6:0,0,0:0,0,0:67,55,26:82,95,124:3,0,12:chr1 g.142823277T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142823367 rs114305684 G A 73 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=340 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:37:0:0:25,15:727,509:73.03,0.00:72.86,0.00:0.17,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,58:40.7,1.3:0,0:0,0:57,57:94,94:19,36:chr1 g.142823366G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142823508 rs4106273 G A 26 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:34:4:0:0:9,1,24:296,10,702:25.51,-0.06,0.00:3.07,-0.03,0.00:22.44,-0.03,0.00:0.99,0.00,0.00:0.71,0.00,0.00:1.00,0.00,0.00:18,13,40:49.9,49.0,25.4:0,0,0:0,0,0:101,92,71:49,59,76:28,0,21:chr1 g.142823507G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142823571 rs141432767 G GGT 7 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,GGT,D:22:1:8:1:14,7,1:454,127,15:0.00,6.74,0.42:0.00,-0.16,-0.02:0.00,6.90,0.44:0.00,0.97,0.00:0.00,0.54,0.00:0.00,1.00,0.00:40,40,15:42.6,25.6,0.0:2,1,0:0,0,0:122,83,119:22,68,32:13,6,0:-,chr1 g.142823571_142823572insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142823572 rs77431049 T G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=95;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:G,T:21:1:0:1:5,16:165,507:13.89,0.00:3.25,0.00:10.63,0.00:0.85,0.00:0.49,0.00:0.99,0.00:27,40:50.6,32.6:0,10:0,0:139,89:12,61:9,27:chr1 g.142823571T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142824866 rs61814354 C T 101 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:39:0:2:10,31:339,960:0.00,100.82:0.00,89.71:0.00,11.12:0.00,1.00:0.00,1.00:0.00,1.00:48,42:20.9,87.1:0,0:0,0:49,24:101,126:40,15:-,chr1 g.142824865C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142824884 rs138320637 A G 71 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:54:0:0:34,23:1124,764:0.00,70.68:0.00,49.46:0.00,21.21:0.00,1.00:0.00,1.00:0.00,1.00:48,42:42.2,93.4:0,0:0,0:30,32:121,119:17,20:-,chr1 g.142824883A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142824908 rs144017068 T C 247 nt VT=SNV;PN=T;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=87;PC=0.177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:91:86:0:0:70,21:2353,685:247.34,0.00:201.62,0.00:45.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,48:60.0,13.2:0,0:0,0:34,37:109,105:25,30:chr1 g.142824907T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142825055 rs372123587 C A 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:85:40:0:0:16,69:535,2336:43.28,0.00:7.33,0.00:35.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,52:38.4,12.8:0,0:0,0:96,117:54,31:22,22:chr1 g.142825054C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142825124 rs140369799 T C 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=75 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:0:0:0:23,19:788,593:77.25,0.00:0.00,0.00:77.25,0.00:1.00,0.00:0.00,0.00:1.00,0.00:27,40:44.2,27.8:0,0:0,0:91,108:60,43:36,27:chr1 g.142825123T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142826519 rs61815368 T A 69 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=115;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:10:0:0:18:607:69.28:38.57:30.72:1.00:1.00:1.00:40:36.5:0:0:45:105:11:chr1 g.142826518T>A (intergenic),chr1 g.142826518T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 142826652 rs3002988 C G 16 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.190 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:C,G:27:12:0:0:20,7:681,190:0.00,15.63:0.00,15.23:0.00,0.40:0.00,0.96:0.00,0.95:0.00,0.98:50,40:11.4,63.1:0,0:0,0:83,8:67,142:31,8:-,chr1 g.142826651C>G (intergenic):-,0.07:-,NOT_FOUND 1 142826688 rs4118750 T G 23 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:33:19:0:0:10,23:274,745:23.36,0.00:25.71,0.00:-2.35,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,50:69.6,6.8:0,0:0,0:36,82:114,69:22,46:chr1 g.142826687T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142826805 rs4118749 T A 61 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:34:31:0:0:20,1,13:611,10,406:60.99,0.08,0.00:62.53,0.13,0.00:-1.54,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:40,27,50:55.0,46.0,0.0:0,0,0:0,0,0:95,40,69:55,109,82:29,0,49:chr1 g.142826804T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142827024 rs200872968 AAG A 194 nt VT=DEL;SST=Single;DP=219;DB;DBA=NA;PAF=NA;NP=175;PC=0.977;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAG,A:219:180:0:84:135,84:4199,2179:0.00,194.19:0.00,126.69:0.00,67.51:0.00,1.00:0.00,1.00:0.00,1.00:51,41:30.0,39.3:4,0:0,0:29,46:118,105:21,25:-,chr1 g.142827025_142827026delAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142827044 rs61815370 G A 720 nt VT=SNV;PN=A;NN=T;SST=Single;DP=267;DB;DBA=NA;PAF=NA;NP=2321;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:267:214:0:0:209,1,57:6806,13,1919:720.17,-0.01,0.00:448.13,-0.07,0.00:272.05,0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:41,25,53:40.0,31.0,14.7:0,0,0:0,0,0:39,6,42:108,145,107:23,0,26:chr1 g.142827043G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142827207 rs200556647 G A 223 nt VT=SNV;PN=T;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:113:37:0:0:71,1,41:2209,21,1393:222.76,0.48,0.00:60.47,-0.05,0.00:162.29,0.52,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,24,51:44.5,149.0,5.6:0,0,0:0,0,0:130,73,82:21,77,63:14,0,29:chr1 g.142827206G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 142827387 rs61815373 C T 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=240 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:2:0:0:9,30:263,953:0.00,100.51:0.00,7.03:0.00,93.48:0.00,1.00:0.00,0.96:0.00,1.00:40,40:6.4,38.3:0,0:0,0:114,91:37,60:13,39:-,chr1 g.142827386C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 142827590 . C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;NP=29;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,T:17:0:0:0:13,4:353,129:0.00,10.80:0.00,0.00:0.00,10.80:0.00,0.74:0.00,0.00:0.00,0.74:41,40:39.4,62.2:0,0:0,0:113,117:28,33:32,7:-,chr1 g.142827589C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143187008 rs61788678 T A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=87;PC=0.002;Gene=LOC102723769/NR_110761.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,T:13:9:0:0:3,10:82,322:6.58,0.00:1.63,0.00:4.96,0.00:0.58,0.00:0.87,0.00:0.91,0.00:60,70:39.0,28.9:0,0:0,0:29,31:79,105:18,19:chr1 g.143187007T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143187023 rs367900025 C CTGTG 9 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=14;NP=17;PC=0.001;Gene=LOC102723769/NR_110761.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,CTGTG:9:7:5:0:6,3:158,160:0.00,8.72:0.00,2.74:0.00,5.98:0.00,0.60:0.00,0.86:0.00,0.93:60,60:43.8,30.7:0,2:0,0:65,34:51,97:37,18:-,chr1 g.143187023_143187024insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143188470 rs200631320 C T 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=86;PC=0.019;Gene=LOC102723769/NR_110761.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:3:0:0:1,3:34,101:0.00,10.55:0.00,9.23:0.00,1.32:0.00,0.85:0.00,0.99:0.00,0.95:40,41:0.0,74.3:0,0:0,0:39,29:112,122:0,6:-,chr1 g.143188469C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143188556 rs145795485 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=64;PC=0.001;Gene=LOC102723769/NR_110761.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:3:0:0:1,3:35,96:0.00,10.05:0.00,6.90:0.00,3.15:0.00,0.85:0.00,0.99:0.00,0.99:40,41:0.0,76.7:0,0:0,0:125,109:26,42:0,6:-,chr1 g.143188555C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209499 rs200846227 C T 24 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=NA;PC=0.981 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,G,T:147:90:0:0:134,1,12:4204,9,359:0.00,-0.35,23.71:0.00,-0.16,26.07:0.00,-0.19,-2.36:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.98:46,6,40:26.7,30.0,50.4:0,0,0:0,0,0:76,88,77:74,63,73:29,0,17:-,chr1 g.143209498C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209530 rs80248692 T G 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=1;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:147:90:0:0:46,101:1475,3136:129.77,0.00:119.08,0.00:10.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,46:94.6,17.1:0,0:0,0:77,106:74,45:21,24:chr1 g.143209529T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209588 . C T 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=102;PC=0.233 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:57:0:0:66,36:2145,1165:0.00,104.92:0.00,76.10:0.00,28.82:0.00,1.00:0.00,1.00:0.00,1.00:41,40:17.7,149.7:2,0:0,0:80,90:69,59:40,30:-,chr1 g.143209587C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209625 . C T 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=81;PC=0.064 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:27:0:0:54,27:1554,897:0.00,80.25:0.00,23.78:0.00,56.47:0.00,1.00:0.00,1.00:0.00,1.00:41,40:19.8,226.3:0,0:0,0:76,105:74,46:29,15:-,chr1 g.143209624C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209633 . C T 77 nt VT=SNV;PN=T;NN=A;SST=Single;DP=83;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:27:0:0:56,27:1813,871:0.00,77.26:0.00,24.51:0.00,52.75:0.00,1.00:0.00,1.00:0.00,1.00:41,40:19.2,223.1:0,0:0,0:76,114:73,34:33,14:-,chr1 g.143209632C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209636 . G A 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=84;PC=0.800 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:84:27:0:0:26,1,57:749,12,1793:64.88,-0.12,0.00:20.46,-0.09,0.00:44.42,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,24,41:225.2,256.0,20.7:0,0,0:0,0,0:116,28,78:33,120,72:15,0,34:chr1 g.143209635G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209654 rs201673466 T G 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=34;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:85:27:0:0:13,72:421,2278:32.53,0.00:9.17,0.00:23.35,0.00:1.00,0.00:0.96,0.00:1.00,0.00:40,41:45.2,97.8:0,0:0,0:81,95:70,55:50,41:chr1 g.143209653T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209655 . C G 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=85;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:85:28:0:0:1,56,28:9,1819,890:-0.20,0.00,79.14:-0.00,0.00,17.19:-0.20,0.00,61.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:23,41,40:118.0,19.1,229.1:0,0,0:0,0,0:128,82,121:23,67,28:0,35,22:-,chr1 g.143209654C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209665 rs559371109 C G 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=0.781 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:83:23:0:0:59,23,1:1866,759,11:0.00,65.76,-0.16:0.00,7.48,0.05:0.00,58.28,-0.21:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,25,23:18.2,238.8,118.0:0,0,0:0,0,0:83,68,138:68,82,13:39,48,0:-,chr1 g.143209664C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209669 . T C 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=80;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:22:0:0:21,59:648,1900:54.83,0.00:6.08,0.00:48.75,0.00:1.00,0.00:0.99,0.00:1.00,0.00:25,40:240.1,19.7:0,0:0,0:61,79:86,69:36,41:chr1 g.143209668T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209689 . T C 60 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=80;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:23:0:0:22,58:704,1877:60.46,0.00:0.38,0.00:60.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:25,40:199.0,17.8:0,0:0,0:51,74:99,76:28,42:chr1 g.143209688T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209711 . C G 71 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=76;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:76:22:0:0:51,25:1648,797:0.00,70.73:0.00,0.13:0.00,70.60:0.00,1.00:0.00,1.00:0.00,1.00:42,40:17.5,176.1:0,0:0,0:75,61:76,90:34,29:-,chr1 g.143209710C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209751 . G T 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=73;NP=64;PC=0.327 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:73:22:0:0:62,11:2052,344:0.00,26.26:0.00,2.38:0.00,23.88:0.00,0.99:0.00,0.93:0.00,1.00:50,42:69.8,68.0:0,0:0,0:84,69:62,81:31,34:-,chr1 g.143209750G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209760 rs370992034 G GT 24 sb,nt VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=1;PC=0.996;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:70:22:21:0:49,21:1510,326:0.00,23.78:0.00,-2.23:0.00,26.01:0.00,1.00:0.00,1.00:0.00,1.00:50,40:31.8,142.0:0,0:0,0:85,85:65,59:40,25:-,chr1 g.143209760_143209761insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209767 rs201941431 G C 62 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:67:22:0:0:21,46:698,1486:61.73,0.00:0.63,0.00:61.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:142.0,21.6:0,0:0,0:93,92:51,59:25,30:chr1 g.143209766G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209808 rs79604104 T G 34 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=2;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:17:0:0:12,40:406,1290:34.13,0.00:-1.59,0.00:35.73,0.00:1.00,0.00:0.97,0.00:1.00,0.00:40,60:122.7,17.2:0,0:0,0:119,84:30,66:15,44:chr1 g.143209807T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209814 rs113670169 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=550;PC=0.955 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:52:18:0:0:46,6:1394,203:0.00,15.09:0.00,-0.80:0.00,15.89:0.00,0.84:0.00,0.80:0.00,0.97:60,42:41.7,81.7:0,0:0,0:96,98:54,52:39,16:-,chr1 g.143209813C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209849 rs76618926 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:42:13:0:0:36,6:1043,179:0.00,13.35:0.00,-0.10:0.00,13.45:0.00,0.87:0.00,0.79:0.00,0.97:60,43:18.3,123.8:0,0:0,0:93,122:56,27:35,13:-,chr1 g.143209848C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143209937 . T C 15 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,T:41:28:0:0:6,35:199,1110:15.36,0.00:13.68,0.00:1.68,0.00:0.87,0.00:0.96,0.00:0.90,0.00:40,60:159.2,13.7:0,0:0,0:15,63:135,88:5,37:chr1 g.143209936T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209951 rs76004061 T A 17 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,T:47:33:0:0:7,40:218,1263:16.56,0.00:14.63,0.00:1.93,0.00:0.93,0.00:0.98,0.00:0.91,0.00:40,60:155.7,12.4:0,0:0,0:28,57:122,88:7,38:chr1 g.143209950T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143209990 rs375856021 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:A,G:43:34:0:0:6,37:199,1245:15.22,0.00:16.03,0.00:-0.81,0.00:0.87,0.00:0.98,0.00:0.84,0.00:40,55:141.7,9.4:0,0:0,0:65,89:85,61:5,36:chr1 g.143209989G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210010 rs202029699 T C 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.785 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,G,T:46:36:0:0:6,1,39:211,9,1233:16.29,-0.22,0.00:17.11,-0.09,0.00:-0.82,-0.13,0.00:0.86,0.00,0.00:0.97,0.00,0.00:0.83,0.00,0.00:40,13,50:141.7,216.0,6.6:0,0,0:0,0,0:85,93,72:65,49,79:5,0,42:chr1 g.143210009T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210112 rs61785383 C T 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=1;NP=104;PC=0.194 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:42:0:0:48,12:1638,370:0.00,29.70:0.00,23.00:0.00,6.70:0.00,1.00:0.00,1.00:0.00,1.00:55,29:2.0,63.9:0,0:0,0:52,31:98,117:30,17:-,chr1 g.143210111C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210174 rs78780536 C G 99 nt VT=SNV;PN=A;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=1;NP=968;PC=0.150 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:91:64:0:0:57,34:1931,1088:0.00,98.88:0.00,77.98:0.00,20.89:0.00,1.00:0.00,1.00:0.00,1.00:55,52:5.6,65.9:0,0:0,0:62,43:87,107:32,17:-,chr1 g.143210173C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210184 rs150660353 G A 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=32;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:91:64:0:0:10,81:310,2611:22.11,0.00:16.57,0.00:5.54,0.00:0.98,0.00:1.00,0.00:0.99,0.00:40,58:94.9,19.7:0,0:0,0:39,61:109,89:11,25:chr1 g.143210183G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210193 . G GT 43 rn VT=INS;SST=Single;DP=94;NP=1;PC=1.000;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:94:63:27:0:67,27:2265,546:0.00,42.86:0.00,28.13:0.00,14.74:0.00,1.00:0.00,1.00:0.00,1.00:58,52:11.5,72.6:0,0:0,0:71,59:79,90:27,20:-,chr1 g.143210193_143210194insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210293 . T C 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;NP=54;PC=0.615 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:24:0:0:16,43:477,1390:40.36,0.00:13.54,0.00:26.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,60:107.7,14.9:0,0:0,0:111,71:39,78:28,34:chr1 g.143210292T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210303 rs200470171 T G 61 nt VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=578;PC=0.093 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:54:19:0:0:20,34:670,1044:61.09,0.00:4.40,0.00:56.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:93.2,13.9:0,0:0,0:115,80:36,70:8,33:chr1 g.143210302T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210327 . C T 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=48;PC=0.844 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:9:0:0:36,12:1168,361:0.00,30.12:0.00,-0.88:0.00,30.99:0.00,1.00:0.00,0.89:0.00,1.00:60,33:15.4,118.7:0,0:0,0:93,137:54,13:26,7:-,chr1 g.143210326C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210343 rs142396925 C T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:6:0:0:30,10:892,303:0.00,25.33:0.00,-0.56:0.00,25.89:0.00,1.00:0.00,0.80:0.00,1.00:60,24:9.8,141.7:0,0:0,0:99,114:51,35:22,20:-,chr1 g.143210342C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210370 rs150481127 G C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=1;NP=136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:A,C,G:38:6:0:0:1,7,30:9,239,977:-0.16,19.45,0.00:-0.05,-0.40,0.00:-0.11,19.85,0.00:0.00,0.94,0.00:0.00,0.68,0.00:0.00,1.00,0.00:40,40,60:178.0,213.0,12.4:0,0,0:0,0,0:135,32,100:-25,119,49:0,17,35:chr1 g.143210369G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210434 . A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,G:21:0:0:0:16,5:502,171:0.00,14.48:0.00,0.00:0.00,14.48:0.00,0.85:0.00,0.00:0.00,0.85:60,40:27.1,229.4:0,0:0,0:94,89:55,62:37,10:-,chr1 g.143210433A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210436 rs201592860 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:0:0:0:8,13:266,439:24.36,0.00:0.00,0.00:24.36,0.00:0.99,0.00:0.00,0.00:0.99,0.00:40,60:191.6,3.6:0,0:0,0:86,108:65,43:10,27:chr1 g.143210435G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210443 rs200054452 T C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,T:21:0:0:0:6,15:199,485:17.31,0.00:0.00,0.00:17.31,0.00:0.93,0.00:0.00,0.00:0.93,0.00:40,60:238.0,28.9:0,3:0,0:93,98:58,53:10,37:chr1 g.143210442T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210469 . A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,G:16:0:0:0:10,6:308,177:0.00,15.97:0.00,0.00:0.00,15.97:0.00,0.95:0.00,0.00:0.00,0.95:60,40:38.6,238.0:0,0:0,0:91,119:58,32:28,10:-,chr1 g.143210468A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210476 rs200660456 T C 6 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,T:16:0:0:0:3,13:83,426:6.38,0.00:0.00,0.00:6.38,0.00:0.54,0.00:0.00,0.00:0.54,0.00:15,60:128.7,109.8:0,0:0,0:100,121:50,30:11,21:chr1 g.143210475T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210477 . G A 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:6,11:203,338:18.37,0.00:0.00,0.00:18.37,0.00:0.95,0.00:0.00,0.00:0.95,0.00:40,60:238.0,44.9:0,0:0,0:127,98:24,52:10,33:chr1 g.143210476G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143210524 rs200285304 A C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,C:9:0:0:0:6,3:172,78:0.00,6.74:0.00,0.00:0.00,6.74:0.00,0.64:0.00,0.00:0.00,0.64:60,29:32.2,170.3:0,0:0,0:110,137:39,14:33,11:-,chr1 g.143210523A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210574 . C CGT 8 nt VT=INS;SST=Single;DP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CGT:5:0:3:0:2,3:30,78:0.00,7.79:0.00,0.00:0.00,7.79:0.00,0.78:0.00,0.00:0.00,0.78:60,40:96.5,173.7:0,0:0,0:84,60:62,72:12,50:-,chr1 g.143210574_143210575insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210576 rs568270672 C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,C,T:5:0:0:0:1,1,3:9,33,73:0.60,0.00,7.66:0.00,0.00,0.00:0.60,0.00,7.66:0.00,0.00,0.78:0.00,0.00,0.00:0.00,0.00,0.78:40,60,40:85.0,108.0,173.7:0,0,3:0,0,0:74,99,64:69,52,68:0,0,50:-,chr1 g.143210575C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210584 rs574987964 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:C,T:5:0:0:0:2,3:10,96:0.00,9.75:0.00,0.00:0.00,9.75:0.00,0.78:0.00,0.00:0.00,0.78:60,40:96.5,173.7:1,0:0,0:95,72:51,60:11,50:-,chr1 g.143210583C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143210598 . T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:0:0:0:2,2:72,64:6.95,0.00:0.00,0.00:6.95,0.00:0.51,0.00:0.00,0.00:0.51,0.00:40,60:120.0,96.5:0,0:0,0:61,109:80,37:25,11:chr1 g.143210597T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143212868 . T C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:6:5:0:0:4,2:128,69:13.05,0.00:13.53,0.00:-0.48,0.00:0.93,0.00:0.99,0.00:0.78,0.00:30,60:221.5,11.5:0,0:0,0:12,44:137,107:6,28:chr1 g.143212867T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143212891 rs549839226 T C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:6:5:0:0:4,2:130,68:13.25,0.00:13.73,0.00:-0.48,0.00:0.93,0.00:0.99,0.00:0.78,0.00:30,60:221.5,11.5:0,0:0,0:35,67:114,84:6,28:chr1 g.143212890T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143212903 rs74409239 T C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,T:9:8:0:0:4,5:137,151:12.92,0.00:13.18,0.00:-0.26,0.00:0.85,0.00:0.98,0.00:0.63,0.00:30,60:221.5,6.6:0,0:0,0:47,10:102,140:6,8:chr1 g.143212902T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143212909 rs76444600 T G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:G,T:8:7:0:0:3,5:89,161:8.03,0.00:8.24,0.00:-0.20,0.00:0.67,0.00:0.95,0.00:0.58,0.00:30,60:195.3,6.6:0,0:0,0:53,16:96,134:1,8:chr1 g.143212908T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143212947 rs201621489 A C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,C:9:9:0:0:5,4:162,111:0.00,10.30:0.00,10.30:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:2.0,157.0:0,0:0,0:51,85:99,64:5,6:-,chr1 g.143212946A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143213214 . G C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,G:24:9:0:0:3,21:98,717:7.31,0.00:-0.44,0.00:7.74,0.00:0.47,0.00:0.64,0.00:0.83,0.00:30,40:176.7,2.0:0,0:0,0:55,66:95,85:42,26:chr1 g.143213213G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143223495 rs4094626 C A 19 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:A,C:46:19:0:0:7,39:237,1245:18.52,0.00:-1.36,0.00:19.88,0.00:0.93,0.00:0.90,0.00:0.96,0.00:25,40:98.4,6.0:0,0:0,0:22,42:129,109:1,36:chr1 g.143223494C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143223532 rs200250401 C A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,C:51:16:0:0:5,46:138,1548:9.15,0.00:-0.72,0.00:9.87,0.00:0.72,0.00:0.71,0.00:0.92,0.00:35,40:27.6,21.0:0,0:0,0:26,58:125,92:20,20:chr1 g.143223531C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143223590 . C A 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=52;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:52:12:0:0:10,42:323,1432:26.02,0.00:-1.07,0.00:27.09,0.00:0.99,0.00:0.87,0.00:1.00,0.00:25,40:95.7,12.7:0,0:0,0:115,94:35,57:3,30:chr1 g.143223589C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143223603 . G T 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:52:11:0:0:42,10:1289,326:0.00,26.35:0.00,-0.90:0.00,27.25:0.00,0.99:0.00,0.85:0.00,1.00:50,25:12.7,95.7:0,0:0,0:97,128:53,22:29,3:-,chr1 g.143223602G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143230471 rs61785453 T C 10 end;mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:5:1:0:0:3,2:96,67:9.57,0.00:-0.40,0.00:9.97,0.00:0.78,0.00:0.73,0.00:0.97,0.00:12,51:32.0,19.5:0,0:0,0:148,51:2,98:0,24:chr1 g.143230470T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143233306 rs201653538 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=79;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:124:14.72:0.00:14.72:1.00:0.00:1.00:40:56.8:0:0:42:106:10:chr1 g.143233305G>A (intergenic),chr1 g.143233305G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 143283257 . G A 15 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;NP=9;PC=0.488 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:14:14:0:0:5,9:163,314:14.72,0.00:15.49,0.00:-0.77,0.00:0.90,0.00:0.90,0.00:0.95,0.00:60,40:66.4,16.3:0,0:0,0:31,66:120,85:26,6:chr1 g.143283256G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143283343 rs76472559 G C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=675;PC=0.769 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:8:0:0:6,10:210,289:19.27,0.00:11.57,0.00:7.70,0.00:0.95,0.00:0.67,0.00:0.99,0.00:60,51:156.5,20.0:0,0:0,0:65,134:82,17:31,13:chr1 g.143283342G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143283408 . C G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;NP=1;NP=5;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:4:2:0:0:2,2:69,71:0.00,6.85:0.00,1.59:0.00,5.26:0.00,0.51:0.00,0.79:0.00,0.89:60,56:129.5,171.5:0,0:0,0:58,121:87,27:44,14:-,chr1 g.143283407C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143283411 rs79327926 A G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:3:0:0:3,2:78,71:0.00,6.60:0.00,1.40:0.00,5.20:0.00,0.46:0.00,0.80:0.00,0.80:60,41:94.7,224.0:0,1:0,0:17,104:133,44:17,5:-,chr1 g.143283410A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143283429 rs61786770 A C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=5;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:5:2:0:0:2,3:66,105:0.00,10.47:0.00,-0.79:0.00,11.26:0.00,0.78:0.00,0.87:0.00,0.94:60,41:12.5,235.7:0,1:0,0:26,120:124,28:8,3:-,chr1 g.143283428A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143283442 rs201229031 A G 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:2:0:0:3,2:101,70:0.00,6.49:0.00,-0.44:0.00,6.94:0.00,0.46:0.00,0.70:0.00,0.80:60,40:78.0,249.0:0,0:0,0:48,134:102,11:17,1:-,chr1 g.143283441A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143283450 . G A 9 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:5:2:0:0:3,2:95,62:9.47,0.00:-0.79,0.00:10.26,0.00:0.78,0.00:0.87,0.00:0.94,0.00:41,60:235.7,12.5:0,0:0,0:141,47:7,103:3,8:chr1 g.143283449G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143355201 . A C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,C:4:4:0:0:2,2:54,70:0.00,6.75:0.00,6.75:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:25,25:34.5,104.0:0,0:0,0:76,16:69,134:27,9:-,chr1 g.143355200A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143355225 rs376706772 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:5:0:0:3,2:79,71:0.00,6.59:0.00,6.59:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:25,25:23.0,104.0:0,0:0,0:73,40:66,110:54,9:-,chr1 g.143355224A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143355616 . A G 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G:7:0:0:0:4,3:135,80:0.00,7.35:0.00,0.00:0.00,7.35:0.00,0.69:0.00,0.00:0.00,0.69:25,25:8.2,190.0:0,0:0,0:141,121:9,30:6,5:-,chr1 g.143355615A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143364658 . C A 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:28:28:0:0:8,20:252,676:21.74,0.00:21.74,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:40,40:33.8,11.7:0,0:0,0:38,33:112,117:29,13:chr1 g.143364657C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143364769 . C A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,C,T:41:32:0:0:6,34,1:169,1058,12:12.49,0.00,-0.05:9.86,0.00,-0.26:2.63,0.00,0.22:0.87,0.00,0.00:0.98,0.00,0.00:0.80,0.00,0.00:27,40,21:64.5,12.4,89.0:0,0,0:0,0,0:92,60,22:58,90,128:40,46,0:chr1 g.143364768C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143364782 . G T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:G,T:38:27:0:0:32,6:1019,151:0.00,10.85:0.00,3.30:0.00,7.55:0.00,0.88:0.00,0.97:0.00,0.88:40,27:17.2,66.5:0,0:0,0:49,66:101,85:23,43:-,chr1 g.143364781G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143364840 rs61798297 G T 21 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:G,T:43:23:0:0:35,8:1173,258:0.00,20.65:0.00,1.08:0.00,19.57:0.00,0.97:0.00,0.97:0.00,0.96:40,40:21.9,33.4:0,0:0,0:84,102:67,48:29,14:-,chr1 g.143364839G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143364877 . G T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:G,T:41:22:0:0:36,5:1145,173:0.00,13.09:0.00,-1.24:0.00,14.33:0.00,0.76:0.00,0.87:0.00,0.84:40,27:14.4,57.8:0,0:0,0:97,95:53,55:36,16:-,chr1 g.143364876G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143375263 rs4106265 A G 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1189;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:19:7:0:0:2,17:64,458:0.00,51.02:0.00,21.76:0.00,29.26:0.00,1.00:0.00,1.00:0.00,1.00:60,56:97.0,66.6:0,0:0,0:98,61:47,78:23,23:-,chr1 g.143375262A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143378564 rs138693387 G A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=109;PC=0.103 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,G:13:6:0:0:4,9:131,265:11.53,0.00:5.99,0.00:5.54,0.00:0.79,0.00:0.87,0.00:0.90,0.00:39,40:37.0,12.1:0,0:0,0:90,71:61,80:43,26:chr1 g.143378563G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143663927 . G C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,G:10:9:0:0:3,7:100,229:8.78,0.00:5.90,0.00:2.88,0.00:0.62,0.00:0.94,0.00:0.59,0.00:40,43:242.3,0.0:2,0:0,0:37,31:113,120:21,26:chr1 g.143663926G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143663949 . C T 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:21:0:1:11,13:371,399:0.00,38.89:0.00,26.71:0.00,12.18:0.00,1.00:0.00,1.00:0.00,0.99:43,40:12.5,226.1:0,2:0,0:27,14:123,131:23,6:-,chr1 g.143663948C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143663953 . T G 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:26:23:0:0:1,13,12:34,393,381:2.26,37.94,0.00:2.29,24.64,0.00:-0.03,13.29,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,40,43:210.0,228.0,28.2:0,2,0:0,0,0:16,18,29:131,127,121:0,8,22:chr1 g.143663952T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143663958 . C G 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:24:0:0:12,15:349,482:0.00,47.32:0.00,35.45:0.00,11.87:0.00,1.00:0.00,1.00:0.00,0.96:43,40:28.2,224.1:0,0:0,0:34,23:116,122:22,8:-,chr1 g.143663957C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143663970 . G C 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:31:27:0:0:1,17,13:10,568,414:0.08,55.99,0.00:0.12,42.40,0.00:-0.04,13.58,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,40,43:49.0,220.5,22.8:0,0,0:0,0,0:36,33,25:115,114,126:0,13,14:chr1 g.143663969G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143663984 rs142464127 T C 93 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:38:0:0:29,15:918,516:93.34,0.00:66.24,0.00:27.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:199.2,9.9:0,0:0,0:34,50:116,101:21,29:chr1 g.143663983T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143664011 rs140313028 A C 147 nt VT=SNV;PN=G;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:69:53:0:0:23,45,1:738,1440,12:0.00,146.54,0.07:0.00,85.85,-0.12:0.00,60.70,0.18:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,42,27:8.7,180.4,230.0:0,0,0:0,0,0:47,37,65:104,114,83:26,21,0:-,chr1 g.143664010A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143664074 rs148282614 C G 220 nt VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:85:51:0:0:22,63:723,2108:0.00,219.74:0.00,74.38:0.00,145.36:0.00,1.00:0.00,1.00:0.00,1.00:51,44:8.7,173.4:0,0:0,0:96,82:54,67:27,26:-,chr1 g.143664073C>G (intergenic):-,0.29:-,NOT_FOUND 1 143664091 rs587710151 C G 203 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:79:45:0:0:20,59:652,1939:0.00,202.52:0.00,61.23:0.00,141.29:0.00,1.00:0.00,1.00:0.00,1.00:51,44:3.1,171.6:0,0:0,0:85,81:65,70:29,18:-,chr1 g.143664090C>G (intergenic):-,0.3:-,NOT_FOUND 1 143664107 rs145804921 G A 209 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:37:0:0:58,20:2003,646:208.68,0.00:55.50,0.00:153.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,51:170.6,3.1:0,0:0,0:94,101:54,49:18,28:chr1 g.143664106G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143664135 rs78827372 C CACG 31 nt VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.008;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CACG:70:22:20:0:50,20:1696,398:0.00,30.96:0.00,8.26:0.00,22.70:0.00,1.00:0.00,1.00:0.00,1.00:51,43:102.2,185.8:0,0:0,0:119,100:27,50:21,26:-,chr1 g.143664135_143664136insACG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143664165 rs140216616 C G 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:43:3:0:0:14,29:475,911:0.00,93.12:0.00,7.71:0.00,85.41:0.00,1.00:0.00,0.97:0.00,1.00:50,43:0.0,216.3:0,0:0,0:71,105:78,46:16,29:-,chr1 g.143664164C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143664168 rs138587150 G A 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:2:0:0:28,14:848,495:86.50,0.00:7.50,0.00:79.00,0.00:1.00,0.00:0.91,0.00:1.00,0.00:43,50:219.2,0.0:0,0:0,0:108,74:43,75:27,16:chr1 g.143664167G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143664173 rs143804077 T C 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:2:0:0:24,14:793,420:79.92,0.00:7.45,0.00:72.47,0.00:1.00,0.00:0.89,0.00:1.00,0.00:43,50:228.0,0.0:0,0:0,0:110,79:40,70:17,16:chr1 g.143664172T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143664183 rs150890212 G T 66 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:33:1:0:0:13,20:434,660:0.00,65.95:0.00,3.46:0.00,62.50:0.00,1.00:0.00,0.74:0.00,1.00:50,43:0.0,233.9:0,0:0,0:86,116:64,35:16,12:-,chr1 g.143664182G>T (intergenic):-,0.28:-,NOT_FOUND 1 143664198 . T C 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:1:0:0:18,14:520,458:51.03,0.00:3.53,0.00:47.50,0.00:1.00,0.00:0.71,0.00:1.00,0.00:43,50:225.7,0.0:0,0:0,0:120,100:31,50:18,16:chr1 g.143664197T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143664235 . C G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:1:0:0:12,8:403,267:0.00,24.67:0.00,3.38:0.00,21.29:0.00,0.99:0.00,0.60:0.00,1.00:50,43:0.0,171.1:0,0:0,0:127,117:23,11:15,17:-,chr1 g.143664234C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 143664298 rs587663109 T A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,T:6:1:0:0:4,2:137,70:13.95,0.00:3.20,0.00:10.75,0.00:0.93,0.00:0.78,0.00:0.99,0.00:27,40:112.5,0.0:3,0:0,0:72,95:70,54:14,16:chr1 g.143664297T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143664363 . G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:0:0:0:3,1:96,34:10.05,0.00:0.00,0.00:10.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:27,40:86.3,0.0:0,0:0,0:131,144:7,6:12,0:chr1 g.143664362G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 143720165 rs28688942 T C 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=898;PC=0.997;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:7:7:0:0:4,3:122,99:12.03,0.00:12.03,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:27,27:35.8,7.7:0,0:0,0:76,76:73,75:15,35:NR_027469.1(LOC100286793) n.509-210A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 143743096 rs372143777 T A 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=9;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,T:10:10:0:0:6,4:155,126:15.37,0.00:15.37,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:40,40:65.8,0.0:0,0:0,0:43,36:95,113:23,6:NR_027469.1(LOC100286793) n.387+1105A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 143743287 . T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=52;PC=1.000;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:C,T:52:45:0:0:5,47:128,1506:8.13,0.00:8.81,0.00:-0.68,0.00:0.72,0.00:0.96,0.00:0.82,0.00:40,46:73.2,10.0:3,2:0,0:20,61:101,87:16,26:NR_027469.1(LOC100286793) n.387+914A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 143743605 . G A 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;NP=6;PC=0.005;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,C,G:24:0:0:0:3,1,20:104,8,599:7.97,-0.16,0.00:0.00,0.00,0.00:7.97,-0.16,0.00:0.47,0.00,0.00:0.00,0.00,0.00:0.47,0.00,0.00:43,40,56:52.3,35.0,29.1:0,0,0:0,0,0:141,88,118:10,62,32:5,0,14:XM_003846414.1(LOC100996473) c.153G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 143743625 . C A 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;NP=324;PC=0.017;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,C,T:17:0:0:0:11,5,1:347,128,10:35.60,0.00,0.27:0.00,0.00,0.00:35.60,0.00,0.27:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:41,56,51:54.9,9.4,20.0:0,0,0:0,0,0:129,146,115:22,5,36:12,3,0:XM_003846414.1(LOC100996473) c.173C>A (p.Thr58Lys),-:NOT_FOUND,-:NOT_FOUND,- 1 143744078 rs7512075 C T 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=140;PC=1.000;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:C,T:14:14:0:0:9,5:288,161:0.00,14.52:0.00,14.52:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:58,43:33.2,63.6:0,0:0,0:71,36:66,114:31,13:-,XM_003846414.1(LOC100996473) c.626C>T (p.Ser209Leu):-,NOT_FOUND:-,NOT_FOUND 1 143744160 rs61823125 G A 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=2425;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:65:0:0:16,53:537,1761:45.11,0.00:39.15,0.00:5.97,0.00:1.00,0.00:1.00,0.00:0.96,0.00:53,55:51.9,16.0:0,0:0,0:45,37:105,114:24,19:XM_003846414.1(LOC100996473) c.708G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 143744356 . C G 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=142;NP=93;PC=1.000;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,C,G:142:91:0:0:1,126,15:13,3917,493:-0.24,0.00,35.77:-0.20,0.00,25.94:-0.04,0.00,9.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:12,55,56:123.0,24.9,42.2:0,0,0:0,0,0:20,65,70:131,85,80:0,32,31:-,NR_027469.1(LOC100286793) n.232G>C:-,NOT_FOUND:-,NOT_FOUND 1 143744411 rs9440956 G C 205 nt VT=SNV;PN=A;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:131:67:0:0:67,64:2130,2106:205.46,0.00:93.43,0.00:112.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,58:42.4,41.4:0,0:0,0:84,79:66,72:26,28:NR_027469.1(LOC100286793) n.177C>G,-:0.36,-:NOT_FOUND,- 1 143744418 rs7512396 C T 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=66;PC=1.000;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:C,T:134:65:0:0:119,15:3617,417:0.00,28.69:0.00,13.95:0.00,14.73:0.00,1.00:0.00,1.00:0.00,1.00:60,40:38.3,57.8:0,0:0,0:95,88:55,63:24,29:-,NR_027469.1(LOC100286793) n.170G>A:-,NOT_FOUND:-,NOT_FOUND 1 143744508 rs61823126 G T 68 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=131;PC=1.000;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:70:9:0:0:46,24:1488,760:0.00,67.92:0.00,0.56:0.00,67.36:0.00,1.00:0.00,0.96:0.00,1.00:58,60:44.6,89.8:0,0:0,0:106,115:42,36:29,23:-,NR_027469.1(LOC100286793) n.80C>A:-,NOT_FOUND:-,NOT_FOUND 1 143744513 rs61823127 C T 80 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=143;PC=1.000;Gene=LINC01138/NR_027468.3/0;VC=NonCoding;Gene=LINC01138/NR_104014.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:65:9:0:0:37,1,27:1124,10,865:0.00,-0.10,80.45:0.00,0.12,1.79:0.00,-0.22,78.66:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:58,57,60:38.2,194.0,82.1:0,0,0:0,0,0:104,115,115:47,36,35:26,0,28:-,NR_027469.1(LOC100286793) n.75G>A:-,NOT_FOUND:-,NOT_FOUND 1 143744564 rs7526370 T C 101 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=103;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:0:0:0:32,8:944,255:100.84,0.00:0.00,0.00:100.84,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,57:49.1,45.2:0,0:0,0:120,101:31,49:29,40:NR_027469.1(LOC100286793) n.24A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 143767254 rs201606684 A G 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=220;DB;DBA=NA;PAF=NA;NP=1003;PC=0.368;Gene=PPIAL4G/NM_001123068.1/1;CC=c.*100T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:220:208:0:0:189,1,29,1:5828,11,982,8:0.00,-0.34,74.95,-0.38:0.00,-0.31,70.57,-0.35:0.00,-0.03,4.38,-0.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.90,0.00:60,40,40,16:18.7,52.0,40.6,91.0:0,0,0,0:0,0,0,0:46,11,35,81:105,140,114,70:32,0,17,0:-,NM_001123068.1(PPIAL4G) c.*100T>C:-,NOT_FOUND:-,NOT_FOUND 1 143767312 rs6694367 G T 141 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=440;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PPIAL4G/NM_001123068.1/1;CC=c.*42C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:440:388:0:0:2,379,59:21,12213,1874:-0.70,0.00,140.51:-0.58,0.00,142.03:-0.12,0.00,-1.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,40:122.5,14.2,42.9:0,0,0:0,0,0:97,46,38:49,104,112:37,28,21:-,NM_001123068.1(PPIAL4G) c.*42C>A:-,NOT_FOUND:-,NOT_FOUND 1 143767513 rs6604511 A T 1277 lc VT=SNV;PN=A;NN=A;SST=Single;DP=1620;DB;DBA=NA;PAF=NA;NP=2993;PC=1.000;Gene=PPIAL4G/NM_001123068.1/1;CC=c.336T>A;ProtCh=p.F112L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:1620:1032:0:0:1158,462:36757,14768:0.00,1276.81:0.00,581.30:0.00,695.51:0.00,1.00:0.00,1.00:0.00,1.00:60,57:20.6,95.5:0,0:0,0:78,83:69,62:31,29:-,NM_001123068.1(PPIAL4G) c.336T>A (p.Phe112Leu):-,NOT_FOUND:-,NOT_FOUND 1 143767522 rs6604512 A G 2088 lc VT=SNV;PN=A;NN=C;SST=Single;DP=1565;DB;DBA=NA;PAF=NA;NP=2981;PC=0.040;Gene=PPIAL4G/NM_001123068.1/1;CC=c.327T>C;ProtCh=p.G109=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1565:971:0:0:894,3,665,3:27484,27,22331,54:0.00,-0.72,2088.35,0.30:0.00,-0.35,894.23,0.66:0.00,-0.38,1194.12,-0.36:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,49,60,51:8.3,87.7,91.8,74.7:0,0,0,0:0,0,0,0:81,83,84,39:64,68,64,112:30,4,27,28:-,NM_001123068.1(PPIAL4G) c.327T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 143767547 rs2490183 G A 1741 lc VT=SNV;PN=T;NN=C;SST=Single;DP=1480;DB;DBA=NA;PAF=NA;NP=2229;PC=1.000;Gene=PPIAL4G/NM_001123068.1/1;CC=c.302C>T;ProtCh=p.A101V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1480:865:0:0:618,5,850,7:18805,56,28301,70:1740.89,-0.85,0.00,-1.47:750.47,-0.39,0.00,-0.77:990.42,-0.46,0.00,-0.71:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,40,60,52:98.6,90.0,8.6,140.9:0,0,0,0:0,0,0,0:99,39,88,107:50,112,62,44:26,21,32,24:NM_001123068.1(PPIAL4G) c.302C>T (p.Ala101Val),-:NOT_FOUND,-:NOT_FOUND,- 1 143767628 rs6604514 C T 991 lc VT=SNV;PN=A;NN=C;SST=Single;DP=1070;DB;DBA=NA;PAF=NA;PC=0.993;Gene=PPIAL4G/NM_001123068.1/1;CC=c.221G>A;ProtCh=p.G74D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1070:506:0:0:3,711,2,354:30,22245,38,11163:-0.83,0.00,-0.05,991.20:-0.33,0.00,0.30,359.37:-0.50,0.00,-0.36,631.83:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,60,40,41:71.0,16.2,128.0,100.1:0,0,0,0:0,0,0,0:32,81,91,88:119,64,55,62:16,38,42,39:-,NM_001123068.1(PPIAL4G) c.221G>A (p.Gly74Asp):-,NOT_FOUND:-,NOT_FOUND 1 143767643 rs61824238 T C 1326 lc VT=SNV;PN=G;NN=G;SST=Single;DP=1015;DB;DBA=NA;PAF=NA;NP=3420;PC=1.000;Gene=PPIAL4G/NM_001123068.1/1;CC=c.206A>G;ProtCh=p.H69R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:1015:489:0:0:8,459,548:99,14092,17095:-0.48,1326.10,0.00:-0.71,551.85,0.00:0.23,774.26,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,60:121.0,77.1,11.4:0,0,0:0,0,0:52,85,74:94,65,74:5,39,39:NM_001123068.1(PPIAL4G) c.206A>G (p.His69Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 143767778 rs6604516 T A 1220 lc VT=SNV;PN=C;NN=G;SST=Single;DP=896;DB;DBA=NA;PAF=NA;NP=3178;PC=0.956;Gene=PPIAL4G/NM_001123068.1/1;CC=c.71A>T;ProtCh=p.Q24L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:896:486:0:0:390,2,504:12997,14,16716:1219.62,-0.42,0.00:357.03,-0.19,0.00:862.59,-0.23,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:59,40,60:64.8,23.0,5.9:0,0,0:0,0,0:79,89,78:69,61,68:27,26,37:NM_001123068.1(PPIAL4G) c.71A>T (p.Gln24Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 143767833 rs7521153 T C 920 lc VT=SNV;PN=A;NN=G;SST=Single;DP=778;DB;DBA=NA;PAF=NA;NP=599;PC=0.141;Gene=PPIAL4G/NM_001123068.1/1;CC=c.16A>G;ProtCh=p.I6V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:778:313:0:0:2,331,1,444:22,9925,12,14391:-0.50,920.34,-0.17,0.00:-0.23,144.99,-0.06,0.00:-0.27,775.35,-0.12,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,59,58,60:180.0,81.6,69.0,6.4:0,0,0,0:0,0,0,0:68,107,123,79:83,44,28,70:14,25,0,35:NM_001123068.1(PPIAL4G) c.16A>G (p.Ile6Val),-:NOT_FOUND,-:NOT_FOUND,- 1 143767849 . G . . NT END=143897546;NT GT ./. 1 143767878 rs7513869 C T 510 nt VT=SNV;PN=G;NN=G;SST=Single;DP=578;DB;DBA=NA;PAF=NA;NP=1104;Gene=PPIAL4G/NM_001123068.1/1;CC=c.-30G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:578:195:0:0:1,394,183:36,12198,5786:1.05,0.00,509.53:0.61,0.00,105.48:0.45,0.00,404.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,56:36.0,7.5,94.9:0,0,0:0,0,0:72,95,99:78,49,52:0,32,36:-,NM_001123068.1(PPIAL4G) c.-30G>A:-,NOT_FOUND:-,NOT_FOUND 1 143767935 rs7521254 T C 235 nt VT=SNV;PN=C;NN=A;SST=Single;DP=333;DB;DBA=NA;PAF=NA;NP=1205 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:333:100:0:0:89,244:2761,7655:234.69,0.00:65.65,0.00:169.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:83.2,9.8:0,0:0,0:109,106:41,41:26,22:NM_001123068.1(PPIAL4G) c.-33-u54A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 143768108 rs7514079 C T 212 nt VT=SNV;PN=T;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:1:0:0:26,65:769,2044:0.00,211.82:0.00,-0.54:0.00,212.37:0.00,1.00:0.00,0.81:0.00,1.00:60,49:17.0,85.3:0,0:0,0:109,107:42,44:24,16:-,NM_001123068.1(PPIAL4G) c.-33-u227G>A:-,NOT_FOUND:-,NOT_FOUND 1 143768137 rs7521440 T C 162 nt VT=SNV;PN=G;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=18;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:1:0:0:46,18:1561,532:161.60,0.00:-0.28,0.00:161.87,0.00:1.00,0.00:0.81,0.00:1.00,0.00:49,60:104.4,19.2:0,0:0,0:122,109:27,39:16,27:NM_001123068.1(PPIAL4G) c.-33-u256A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 143768139 rs7550186 G T 149 nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=17;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:63:1:0:0:18,45:560,1437:0.00,148.79:0.00,-0.27:0.00,149.06:0.00,1.00:0.00,0.81:0.00,1.00:60,49:19.2,105.4:0,0:0,0:111,123:37,25:27,17:-,NM_001123068.1(PPIAL4G) c.-33-u258C>A:-,NOT_FOUND:-,NOT_FOUND 1 143897642 . C . . NT END=143906011;NT GT ./. 1 143906122 rs373752917 C A 44 lc VT=SNV;PN=A;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=NA;NP=1;PC=1.000;Gene=FAM72D/NM_207418.2/1;CC=c.245G>T;ProtCh=p.G82V;VC=Missense;Gene=FAM72C/NM_001287385.1/1;CC=c.245G>T;ProtCh=p.G82V;VC=Missense;DM=FAM72D/FAM72 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:151:84:0:0:18,133:595,4250:44.15,0.00:33.41,0.00:10.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:41.8,6.9:0,0:0,0:71,100:80,48:49,24:NM_207418.2(FAM72D) c.245G>T (p.Gly82Val),-:NOT_FOUND,-:NOT_FOUND,- 1 143906137 . C . . NT END=143910077;NT GT ./. 1 143906352 rs199492496 CTATTAT C 7 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FAM72D/NM_207418.2/1;CC=c.231-222_231-217delATAATA;VC=Intron;Gene=FAM72C/NM_001287385.1/1;CC=c.231-222_231-217delATAATA;VC=Intron;DM=FAM72D/FAM72;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CTATTAT,I,C:16:0:2:6:11,1,4:382,17,140:0.00,0.42,6.51:0.00,0.00,0.00:0.00,0.42,6.51:0.00,0.00,0.72:0.00,0.00,0.00:0.00,0.00,0.72:57,14,40:12.6,63.0,62.2:0,1,2:0,0,0:108,68,24:43,82,126:10,7,13:-,NM_207418.2(FAM72D) c.231-222_231-217delATAATA:-,NOT_FOUND:-,NOT_FOUND 1 143910156 . C . . NT END=143912143;NT GT ./. 1 143912296 . G . . NT END=143916241;NT GT ./. 1 143916309 . G . . NT END=144013900;NT GT ./. 1 144013635 rs587729688 G C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=15;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,G:15:15:0:0:5,10:174,304:15.64,0.00:15.64,0.00:0.00,0.00:0.89,0.00:0.89,0.00:0.00,0.00:60,60:49.0,16.4:0,0:0,0:34,11:117,140:23,9:NR_034178.1(SRGAP2B) n.562-266G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144013853 rs6600697 T C 195 nt VT=SNV;PN=G;NN=T;SST=Single;DP=180;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:180:161:0:0:67,1,112:2147,11,3233:195.21,-0.21,0.00:136.18,-0.15,0.00:59.03,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:66.3,117.0,7.8:0,0,0:0,0,0:48,117,36:98,34,109:28,0,29:NR_034178.1(SRGAP2B) n.562-48T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144013865 rs6600696 T G 225 nt VT=SNV;PN=C;NN=G;SST=Single;DP=205;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:205:180:0:0:84,121:2453,3955:224.84,0.00:150.93,0.00:73.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.1,8.0:0,0:0,0:43,40:108,108:31,26:NR_034178.1(SRGAP2B) n.562-36T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144014051 rs1884147 G A 257 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=325;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:325:190:0:0:95,230:2965,7566:256.58,0.00:100.24,0.00:156.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.8,22.2:0,0:0,0:94,71:53,70:34,32:NR_034178.1(SRGAP2B) n.712G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144014068 rs1884146 T C 616 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=305;DB;DBA=NA;PAF=NA;PC=0.977 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:305:161:0:0:193,112:6109,3575:615.79,0.00:230.81,0.00:384.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.0,9.3:0,0:0,0:96,87:53,60:33,31:NR_034178.1(SRGAP2B) n.729T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144014094 . G . . NT END=144053505;NT GT ./. 1 144014234 rs6600695 A G 77 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:59:0:0:0:31,1,27:959,11,815:0.00,-0.03,76.90:0.00,0.00,0.00:0.00,-0.03,76.90:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:23.5,73.0,67.3:0,0,0:0,0,0:113,133,113:37,18,37:23,0,23:-,NR_034178.1(SRGAP2B) n.754+141A>G:-,NOT_FOUND:-,NOT_FOUND 1 144014253 rs6600694 A T 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:43:0:0:0:11,32:389,996:0.00,104.12:0.00,0.00:0.00,104.12:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.2,72.1:0,0:0,0:88,120:63,31:44,22:-,NR_034178.1(SRGAP2B) n.754+160A>T:-,NOT_FOUND:-,NOT_FOUND 1 144014271 rs9439330 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=440 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:32:1:0:0:4,28:130,871:9.68,0.00:-0.06,0.00:9.74,0.00:0.63,0.00:0.42,0.00:0.95,0.00:60,60:87.0,52.1:0,0:0,0:138,91:9,59:5,33:NR_034178.1(SRGAP2B) n.754+178G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144014345 rs12563829 C T 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:1:0:0:15,8:505,259:0.00,23.27:0.00,3.32:0.00,19.95:0.00,0.99:0.00,0.57:0.00,1.00:60,60:25.8,56.5:0,0:0,0:86,81:65,69:45,30:-,NR_034178.1(SRGAP2B) n.754+252C>T:-,NOT_FOUND:-,NOT_FOUND 1 144014526 rs77447105 T A 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,T:5:3:0:0:3,2:91,70:9.07,0.00:1.08,0.00:7.99,0.00:0.78,0.00:0.94,0.00:0.94,0.00:60,60:127.3,52.5:2,0:0,0:99,23:51,123:4,0:NR_034178.1(SRGAP2B) n.754+433T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144014528 rs78044397 T A 10 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,T:5:3:0:0:3,2:96,70:9.57,0.00:0.93,0.00:8.64,0.00:0.78,0.00:0.94,0.00:0.94,0.00:60,60:117.7,52.5:2,0:0,0:81,25:66,121:18,0:NR_034178.1(SRGAP2B) n.754+435T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144014530 rs76791488 T A 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,T:5:3:0:0:3,2:87,69:8.67,0.00:0.93,0.00:7.74,0.00:0.78,0.00:0.94,0.00:0.94,0.00:60,60:117.7,52.5:2,1:0,0:83,27:64,119:18,0:NR_034178.1(SRGAP2B) n.754+437T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144014532 rs77705691 T A 8 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=85 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,T:5:3:0:0:3,2:79,70:7.85,0.00:1.08,0.00:6.77,0.00:0.78,0.00:0.94,0.00:0.94,0.00:60,60:127.3,52.5:1,1:0,0:105,29:45,117:4,0:NR_034178.1(SRGAP2B) n.754+439T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144014534 rs28569199 T A,TCACACACACACA 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.009185,T/0.9908;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:A,TCACACACACACA:5:3:1:0:4,1:111,34:12.59,3.18:5.72,3.18:6.87,0.00:0.96,0.00:0.99,0.00:0.99,0.00:60,54:104.0,71.0:1,0:0,0:97,31:53,113:12,0:NR_034178.1(SRGAP2B) n.754+441T>A,NR_034178.1(SRGAP2B) n.754+441_754+442insCACACACACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 144044056 rs6600677 C T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=1890;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:57:45:0:0:49,8:1665,232:0.00,17.03:0.00,7.93:0.00,9.10:0.00,0.95:0.00,0.99:0.00,0.99:60,50:27.3,40.5:0,0:0,0:65,108:83,42:19,31:-,NR_034178.1(SRGAP2B) n.755-9450C>T:-,NOT_FOUND:-,NOT_FOUND 1 144044106 rs61822940 C T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=1331 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:39:0:0:44,11:1358,379:0.00,31.20:0.00,13.85:0.00,17.35:0.00,1.00:0.00,1.00:0.00,1.00:60,51:17.8,88.5:0,0:0,0:106,115:36,36:27,12:-,NR_034178.1(SRGAP2B) n.755-9400C>T:-,NOT_FOUND:-,NOT_FOUND 1 144044114 rs6600676 C T 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=3235 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:34:0:0:36,15:1157,478:0.00,41.54:0.00,14.11:0.00,27.43:0.00,1.00:0.00,1.00:0.00,1.00:60,58:13.8,94.5:0,0:0,0:102,89:40,62:31,31:-,NR_034178.1(SRGAP2B) n.755-9392C>T:-,NOT_FOUND:-,NOT_FOUND 1 144044135 rs2987939 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=71 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:45:21:0:0:40,5:1310,163:0.00,11.87:0.00,-0.72:0.00,12.59:0.00,0.74:0.00,0.83:0.00,0.96:60,27:38.6,41.4:0,0:0,0:98,91:46,59:34,7:-,NR_034178.1(SRGAP2B) n.755-9371A>G:-,NOT_FOUND:-,NOT_FOUND 1 144044142 rs61822942 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=1022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:14:0:0:10,32:284,1072:23.17,0.00:4.35,0.00:18.82,0.00:1.00,0.00:0.95,0.00:1.00,0.00:58,60:115.4,20.4:0,0:0,0:114,91:36,59:33,27:NR_034178.1(SRGAP2B) n.755-9364G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144053279 rs199970671 C G 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=490;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,G:14:14:0:0:10,4:318,138:0.00,12.07:0.00,12.07:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:43,27:24.8,51.2:0,0:0,0:57,56:93,94:23,19:-,NR_034178.1(SRGAP2B) n.755-227C>G:-,NOT_FOUND:-,NOT_FOUND 1 144053465 rs201236831 C T 15 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=99;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,T:20:14:0:0:15,5:501,174:0.00,14.91:0.00,-1.74:0.00,16.65:0.00,0.85:0.00,0.96:0.00,0.80:40,27:6.6,50.4:0,0:0,0:80,69:70,82:34,12:-,NR_034178.1(SRGAP2B) n.755-41C>T:-,NOT_FOUND:-,NOT_FOUND 1 144053567 rs202144114 C T 7 lc VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=27;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:C,T:37:24:0:0:34,3:1044,98:0.00,6.72:0.00,-0.79:0.00,7.50:0.00,0.38:0.00,0.75:0.00,0.67:45,27:2.3,62.7:0,0:0,0:48,65:103,86:27,39:-,NR_034178.1(SRGAP2B) n.816C>T:-,NOT_FOUND:-,NOT_FOUND 1 144053669 . G . . NT END=144094361;NT GT ./. 1 144094304 rs199837323 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=2;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:26:17:0:0:4,22:131,625:10.17,0.00:7.72,0.00:2.45,0.00:0.67,0.00:0.88,0.00:0.75,0.00:27,27:50.5,10.5:0,0:0,0:37,36:114,114:8,21:NR_034178.1(SRGAP2B) n.918-58G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144094427 . A . . NT END=144363676;NT GT ./. 1 144158578 . C A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;PC=0.028;Gene=NBPF20/NM_001278267.1/1;CC=c.8+187C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,C:17:17:0:0:3,14:97,441:7.69,0.00:7.69,0.00:0.00,0.00:0.53,0.00:0.53,0.00:0.00,0.00:28,55:236.3,46.8:0,0:0,0:26,31:124,111:5,17:chr1 g.144158577C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144158584 . C G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;PC=0.018;Gene=NBPF20/NM_001278267.1/1;CC=c.8+193C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,G:18:18:0:0:15,3:425,90:0.00,6.92:0.00,6.92:0.00,0.00:0.00,0.52:0.00,0.52:0.00,0.00:55,28:48.1,236.3:0,0:0,0:29,32:105,118:17,5:-,chr1 g.144158583C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144158601 . A G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.8+210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,C,G:28:26:0:0:21,1,6:607,12,172:0.00,0.08,13.88:0.00,-0.32,13.98:0.00,0.39,-0.10:0.00,0.00,0.91:0.00,0.00,0.99:0.00,0.00,0.49:55,55,40:44.4,64.0,223.2:0,0,0:0,0,0:35,0,30:105,151,121:28,0,20:-,chr1 g.144158600A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144158616 . T C 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.8+225T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:33:31:0:0:6,27:153,876:11.41,0.00:11.62,0.00:-0.22,0.00:0.89,0.00:0.99,0.00:0.50,0.00:40,55:223.2,45.9:0,0:0,0:45,39:106,99:20,23:chr1 g.144158615T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144158618 . G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.8+227G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:A,G:34:32:0:0:6,28:203,806:16.29,0.00:16.49,0.00:-0.20,0.00:0.89,0.00:0.99,0.00:0.49,0.00:40,55:223.2,47.0:0,10:0,0:47,38:104,99:20,23:chr1 g.144158617G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144158659 rs61801118 T G 13 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=4;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.9-212T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:G,T:29:27:0:6:6,23:161,587:12.60,0.00:12.85,0.00:-0.25,0.00:0.90,0.00:0.99,0.00:0.54,0.00:52,55:147.3,39.9:0,0:0,0:96,63:39,86:15,16:chr1 g.144158658T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144158674 . A T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;NP=1;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.9-197A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:31:29:0:2:19,12:433,256:0.00,22.28:0.00,22.71:0.00,-0.43:0.00,1.00:0.00,1.00:0.00,0.69:55,52:34.9,137.8:0,0:0,0:78,107:73,32:22,19:-,chr1 g.144158673A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144158685 . C T 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;NP=1;Gene=NBPF20/NM_001278267.1/1;CC=c.9-186C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,G,T:31:29:0:0:21,1,9:586,10,168:0.00,-0.03,13.10:0.00,-0.00,11.78:0.00,-0.03,1.32:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.67:55,9,41:36.9,46.0,178.0:0,0,0:0,0,0:91,106,98:60,13,28:24,0,27:-,chr1 g.144158684C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144158743 . C G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;NP=1;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.9-128C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,G,T:15:13:0:0:5,8,2:89,209,22:0.00,20.87,1.17:0.00,13.76,1.17:0.00,7.11,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.82,0.00:9,55,40:35.4,58.1,226.5:0,0,0:0,0,0:125,134,148:26,17,2:6,10,1:-,chr1 g.144158742C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144158900 . G A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.38G>A;ProtCh=p.G13E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:36:5:0:0:5,31:173,961:13.39,0.00:-0.32,0.00:13.71,0.00:0.78,0.00:0.52,0.00:0.97,0.00:40,40:43.0,14.8:0,0:0,0:61,88:88,63:7,28:chr1 g.144158899G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144162325 rs587657242 T C 47 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=2;PC=0.007;Gene=NBPF20/NM_001278267.1/1;CC=c.182-2194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:3:0:0:14,19:498,570:46.73,0.00:5.14,0.00:41.60,0.00:1.00,0.00:0.82,0.00:1.00,0.00:15,14:105.8,57.6:0,0:0,0:40,39:109,112:9,15:chr1 g.144162324T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144162328 rs587710469 C T 43 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=2;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.182-2191C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:3:0:0:22,14:699,472:0.00,43.44:0.00,5.29:0.00,38.14:0.00,1.00:0.00,0.79:0.00,1.00:14,15:55.0,103.5:0,0:0,0:32,46:118,103:17,9:-,chr1 g.144162327C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144162341 rs200486797 C T 20 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=4;PC=0.017;Gene=NBPF20/NM_001278267.1/1;CC=c.182-2178C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:C,T:37:3:0:0:30,7:989,245:0.00,20.05:0.00,-0.18:0.00,20.24:0.00,0.94:0.00,0.51:0.00,1.00:15,14:65.2,110.0:0,0:0,0:55,46:96,105:17,9:-,chr1 g.144162340C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144162342 rs201537225 A G 20 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=5;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.182-2177A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C,G:37:3:0:0:29,1,7:902,12,246:0.00,-0.01,20.24:0.00,-0.02,-0.18:0.00,0.02,20.43:0.00,0.00,0.94:0.00,0.00,0.51:0.00,0.00,1.00:15,14,14:63.7,76.0,110.0:0,0,0:0,0,0:57,30,47:94,121,104:18,0,9:-,chr1 g.144162341A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144162358 rs199530189 A G 19 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=7;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.182-2161A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,G:37:2:0:0:30,7:914,233:0.00,18.85:0.00,-0.14:0.00,18.99:0.00,0.94:0.00,0.45:0.00,1.00:15,14:65.2,110.0:0,0:0,0:72,63:79,88:17,9:-,chr1 g.144162357A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144162364 . A G 49 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;NP=6;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.182-2155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:37:1:0:0:20,1,16:532,11,517:0.00,0.05,48.58:0.00,0.00,3.51:0.00,0.05,45.07:0.00,0.00,1.00:0.00,0.00,0.62:0.00,0.00,1.00:14,14,15:56.1,11.0,99.6:0,0,0:0,0,0:71,38,79:80,111,72:16,0,11:-,chr1 g.144162363A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144168645 . T A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;NP=100;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.233+4075T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,T:4:0:0:0:3,1:92,30:9.65,0.00:0.00,0.00:9.65,0.00:0.85,0.00:0.00,0.00:0.85,0.00:27,16:75.7,44.0:0,0:0,0:80,98:55,50:18,0:chr1 g.144168644T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144180707 . C A 7 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;PC=0.017;Gene=NBPF20/NM_001278267.1/1;CC=c.458+300C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,C,G:5:5:0:0:2,2,1:68,46,6:6.52,0.00,0.22:6.63,0.00,0.27:-0.11,0.00,-0.05:0.46,0.00,0.00:0.46,0.00,0.00:0.60,0.00,0.00:10,3,9:116.0,21.5,58.0:0,0,0:0,0,0:21,39,14:128,111,123:13,29,0:chr1 g.144180706C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144180817 rs199883776 G C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=188;PC=0.092;Gene=NBPF20/NM_001278267.1/1;CC=c.459-247G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:C,G:13:12:0:0:6,7:173,229:16.25,0.00:11.02,0.00:5.23,0.00:0.97,0.00:1.00,0.00:0.86,0.00:24,10:45.3,67.4:0,1:0,0:99,97:45,34:32,36:chr1 g.144180816G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144185631 rs61801140 C G 6 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.131;Gene=NBPF20/NM_001278267.1/1;CC=c.1191-197C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:11:8:0:0:8,3:282,77:0.00,6.33:0.00,3.54:0.00,2.79:0.00,0.60:0.00,0.89:0.00,0.89:40,6:37.0,112.3:0,0:0,0:45,102:87,49:8,11:-,chr1 g.144185630C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190202 . G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;Gene=NBPF20/NM_001278267.1/1;CC=c.1922+257G>A;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,G:17:17:0:0:5,12:168,367:14.71,0.00:14.71,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:26,40:61.4,26.6:0,0:0,0:81,61:70,88:8,33:chr1 g.144190201G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190234 . T C 9 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;Gene=NBPF20/NM_001278267.1/1;CC=c.1922+289T>C;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:C,T:39:37:0:0:4,35:124,1193:8.71,0.00:8.80,0.00:-0.09,0.00:0.59,0.00:0.94,0.00:0.33,0.00:17,40:142.8,26.6:0,0:0,0:17,21:133,130:11,13:chr1 g.144190233T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190239 . A C 8 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;Gene=NBPF20/NM_001278267.1/1;CC=c.1922+294A>C;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C:41:39:0:0:36,5:1108,125:0.00,8.34:0.00,8.49:0.00,-0.14:0.00,0.76:0.00,0.97:0.00,0.38:40,17:26.9,132.4:0,0:0,0:23,17:125,134:11,11:-,chr1 g.144190238A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190245 . C A 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;Gene=NBPF20/NM_001278267.1/1;CC=c.1922+300C>A;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:53:49:0:0:11,42:353,1249:28.81,0.00:29.31,0.00:-0.50,0.00:1.00,0.00:1.00,0.00:0.73,0.00:26,42:97.4,18.4:0,0:0,0:34,23:117,127:26,14:chr1 g.144190244C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190332 . G A 187 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=215;NP=52;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-250G>A;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:215:198:0:1:69,145,1:2127,4168,10:187.28,0.00,-0.26:177.76,0.00,-0.26:9.51,0.00,-0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,43,9:76.8,24.7,45.0:23,4,0:0,0,0:56,55,80:90,94,71:15,19,0:chr1 g.144190331G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190345 . CTGTGTGTGTG C 35 idl,nt VT=DEL;SST=Single;DP=131;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-207_1923-198delGTGTGTGTGT;VC=Intron;DM=NBPF20/DUF1220;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:CTGTGTGTGTG,G,I,C:110:117:3:138:64,12,3,31:2163,366,58,828:0.00,27.27,2.52,35.07:0.00,25.71,1.48,26.36:0.00,1.56,1.04,8.71:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:42,19,40,43:49.7,71.2,13.3,34.0:15,10,0,21:0,0,0,0:89,62,75,65:52,88,66,84:33,12,8,17:-,chr1 g.144190346_144190355delTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190436 . C A 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=99;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-146C>A;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,C:99:74:0:0:11,88:310,2523:21.38,0.00:17.06,0.00:4.32,0.00:0.99,0.00:1.00,0.00:0.92,0.00:40,43:104.6,38.1:0,0:0,0:127,132:24,17:7,8:chr1 g.144190435C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190473 . A C 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;PC=0.989;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-109A>C;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,C,G:20:0:0:0:16,3,1:452,105,33:0.00,8.34,2.12:0.00,0.00,0.00:0.00,8.34,2.12:0.00,0.50,0.00:0.00,0.00,0.00:0.00,0.50,0.00:25,20,19:28.2,137.3,33.0:0,0,0:0,0,0:82,126,122:68,22,8:49,6,0:-,chr1 g.144190472A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190482 . G C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;NP=2;PC=0.975;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-100G>C;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,G:16:0:0:0:5,11:173,378:15.37,0.00:0.00,0.00:15.37,0.00:0.88,0.00:0.00,0.00:0.88,0.00:20,25:116.2,23.4:0,0:0,0:119,70:31,81:16,29:chr1 g.144190481G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190486 . T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;NP=1;PC=0.985;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-96T>C;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:21:0:0:0:4,17:133,530:10.77,0.00:0.00,0.00:10.77,0.00:0.70,0.00:0.00,0.00:0.70,0.00:20,21:92.5,52.2:0,0:0,0:24,45:126,106:22,45:chr1 g.144190485T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190488 . T C 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;PC=0.980;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-94T>C;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:C,T:26:0:0:0:3,23:102,653:7.60,0.00:0.00,0.00:7.60,0.00:0.45,0.00:0.00,0.00:0.45,0.00:20,21:137.3,37.1:0,0:0,0:141,15:7,133:6,15:chr1 g.144190487T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190499 . C T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;NP=1;PC=0.965;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-83C>T;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:0:0:0:27,10:826,277:0.00,23.10:0.00,0.00:0.00,23.10:0.00,1.00:0.00,0.00:0.00,1.00:27,20:26.7,81.2:0,0:0,0:13,11:137,139:7,8:-,chr1 g.144190498C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190538 rs200117201 C G 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=2;PC=0.980;Gene=NBPF20/NM_001278267.1/1;CC=c.1923-44C>G;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,C,G:76:0:0:0:1,66,9:34,2125,293:1.62,0.00,21.65:0.00,0.00,0.00:1.62,0.00,21.65:0.00,0.00,0.97:0.00,0.00,0.00:0.00,0.00,0.97:20,27,20:99.0,27.9,56.7:0,0,0:0,0,0:97,37,41:54,112,109:0,13,13:-,chr1 g.144190537C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190605 rs368581635 T C 96 nt VT=SNV;PN=G;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=17;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.1946T>C;ProtCh=p.V649A;VC=Missense;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:115:0:0:0:35,80:1101,2419:96.14,0.00:0.00,0.00:96.14,0.00:1.00,0.00:0.00,0.00:1.00,0.00:22,27:66.2,20.4:0,0:0,0:69,86:81,65:28,27:chr1 g.144190604T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144190689 rs372349069 A T 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=26;PC=0.996;Gene=NBPF20/NM_001278267.1/1;CC=c.2030A>T;ProtCh=p.Q677L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:74:0:0:0:48,26:1430,796:0.00,71.17:0.00,0.00:0.00,71.17:0.00,1.00:0.00,0.00:0.00,1.00:27,22:21.0,65.1:0,0:0,0:94,101:56,49:30,23:-,chr1 g.144190688A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190747 . C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;NP=7;PC=0.991;Gene=NBPF20/NM_001278267.1/1;CC=c.2088C>T;ProtCh=p.D696=;VC=Silent;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:41:0:0:0:35,6:971,195:0.00,14.98:0.00,0.00:0.00,14.98:0.00,0.87:0.00,0.00:0.00,0.87:27,21:29.1,40.0:0,0:0,0:89,131:60,19:37,11:-,chr1 g.144190746C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144190783 . G C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;NP=1;PC=0.997;Gene=NBPF20/NM_001278267.1/1;CC=c.2095+29G>C;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,G:25:0:0:0:5,20:158,658:12.75,0.00:0.00,0.00:12.75,0.00:0.83,0.00:0.00,0.00:0.83,0.00:21,27:58.4,22.7:0,0:0,0:114,105:35,45:33,24:chr1 g.144190782G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144193482 rs201798544 G A 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=95;Gene=NBPF20/NM_001278267.1/1;CC=c.2430-278G>A;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:54:0:0:13,44:397,1425:32.63,0.00:32.43,0.00:0.20,0.00:1.00,0.00:1.00,0.00:0.80,0.00:49,49:84.2,37.2:0,0:0,0:42,26:107,118:15,16:chr1 g.144193481G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144193484 . C T 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=59;Gene=NBPF20/NM_001278267.1/1;CC=c.2430-276C>T;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,T:59:56:0:0:51,8:1559,258:0.00,19.46:0.00,17.21:0.00,2.26:0.00,0.95:0.00,1.00:0.00,0.60:49,49:40.6,88.0:0,0:0,0:28,49:116,102:18,14:-,chr1 g.144193483C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144193557 rs369736451 C T 14 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=26;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.2430-203C>T;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,T:100:94:0:1:88,12:1997,240:0.00,14.08:0.00,13.00:0.00,1.08:0.00,1.00:0.00,1.00:0.00,0.73:49,7:44.5,92.4:1,0:0,0:79,85:71,63:28,20:-,chr1 g.144193556C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144193583 . A T 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=84;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.2430-177A>T;VC=Intron;DM=NBPF20/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,C,T:84:80:0:0:68,1,15:1330,26,267:0.00,0.83,17.04:0.00,0.86,17.55:0.00,-0.03,-0.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.75:48,18,36:45.2,156.0,87.4:0,0,0:0,0,0:87,80,112:59,57,37:23,0,20:-,chr1 g.144193582A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144206737 . C T 47 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=243;PC=0.369;Gene=NBPF20/NM_001278267.1/1;CC=c.3893+869C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,G,T:243:34:0:0:221,1,21:6334,12,676:0.00,-0.31,46.78:0.00,-0.04,-0.80:0.00,-0.28,47.58:0.00,0.00,1.00:0.00,0.00,0.87:0.00,0.00,1.00:40,15,15:8.9,139.0,55.0:0,0,0:0,0,0:97,121,97:53,25,54:24,0,22:-,chr1 g.144206736C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144221029 . A C 29 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=110;NP=1;PC=0.728;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+70A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,C:110:28:0:0:97,13:2982,400:0.00,28.93:0.00,32.72:0.00,-3.80:0.00,1.00:0.00,0.92:0.00,1.00:33,27:11.0,106.7:0,0:0,0:92,25:58,126:34,16:-,chr1 g.144221028A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144221113 rs61802098 A C 37 sb;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+154A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:67:37:0:0:53,14:1688,451:0.00,36.88:0.00,40.08:0.00,-3.20:0.00,1.00:0.00,1.00:0.00,1.00:33,15:19.6,101.1:0,0:0,0:93,104:56,46:25,12:-,chr1 g.144221112A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144221115 rs61802099 T C 45 sb;mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:37:0:0:15,50:530,1498:44.93,0.00:48.28,0.00:-3.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:15,33:98.4,20.3:0,0:0,0:103,92:47,57:12,26:chr1 g.144221114T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144221159 . C A 10 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=66;NP=1;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+200C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:A,C:66:25:0:0:6,60:160,1918:10.23,0.00:0.56,0.00:9.67,0.00:0.81,0.00:0.81,0.00:0.96,0.00:15,40:30.2,45.1:0,0:0,0:34,70:116,81:18,50:chr1 g.144221158C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144221178 . T C 11 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+219T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:59:12:0:0:5,54:164,1745:11.36,0.00:3.77,0.00:7.58,0.00:0.70,0.00:0.57,0.00:0.96,0.00:15,40:82.6,39.0:0,0:0,0:46,55:105,93:26,24:chr1 g.144221177T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144221186 rs61802100 G C 89 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+227G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:59:6:0:0:29,29,1:927,980,10:89.08,0.00,-0.06:11.75,0.00,-0.01:77.33,0.00,-0.05:1.00,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:15,40,14:73.1,19.4,35.0:0,0,0:0,0,0:48,58,30:103,86,119:20,21,0:chr1 g.144221185G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144221224 rs201248535 T C 34 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+265T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:2:0:0:14,70:436,2214:33.89,0.00:-0.16,0.00:34.05,0.00:1.00,0.00:0.42,0.00:1.00,0.00:15,40:68.0,38.4:0,0:0,0:43,63:107,87:22,31:chr1 g.144221223T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144221276 rs61802101 T C 40 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+317T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:2:0:0:15,52:481,1606:39.81,0.00:-0.22,0.00:40.03,0.00:1.00,0.00:0.50,0.00:1.00,0.00:16,40:65.5,42.7:0,0:0,0:107,95:44,55:25,22:chr1 g.144221275T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144221306 . G A 9 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.4798+347G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:45:1:0:0:4,41:128,1359:8.85,0.00:-0.04,0.00:8.89,0.00:0.57,0.00:0.39,0.00:0.94,0.00:15,40:32.0,44.2:0,0:0,0:110,117:41,34:4,11:chr1 g.144221305G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144364172 . G . . NT END=144598537;NT GT ./. 1 144480758 . A G 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;NP=1;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+256583A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:7:7:0:0:3,4:97,141:0.00,13.93:0.00,13.93:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:27,27:120.7,38.0:0,0:0,0:24,30:126,120:8,10:-,NR_024584.1(LOC728875) n.758T>C:-,NOT_FOUND:-,NOT_FOUND 1 144481110 rs376417394 C CT 21 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+256938dupT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:23:3:10:0:13,10:458,229:0.00,20.79:0.00,-0.62:0.00,21.41:0.00,1.00:0.00,0.83:0.00,1.00:27,27:36.2,15.2:1,0:0,0:32,34:118,116:16,15:-,NR_024584.1(LOC728875) n.532-127_532-126insA:-,NOT_FOUND:-,NOT_FOUND 1 144481200 rs116180770 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+257025G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:12:0:0:10,33:320,966:26.69,0.00:6.70,0.00:19.99,0.00:0.99,0.00:0.92,0.00:1.00,0.00:27,43:48.9,19.2:0,0:0,0:104,89:46,53:17,28:NR_024584.1(LOC728875) n.532-216C>T,-:0.1,-:NOT_FOUND,- 1 144481235 rs139706301 A G 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+257060A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:31:11:0:0:17,13,1:505,395,7:0.00,36.71,-0.11:0.00,8.08,-0.10:0.00,28.64,-0.01:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:27,27,27:33.6,32.8,17.0:0,0,0:0,0,0:100,123,116:51,27,35:37,16,0:-,NR_024584.1(LOC728875) n.531+184T>C:-,NOT_FOUND:-,NOT_FOUND 1 144481334 . G A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+257159G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:9:2:0:0:3,6:96,184:8.54,0.00:-0.26,0.00:8.81,0.00:0.64,0.00:0.63,0.00:0.94,0.00:25,25:32.0,16.0:0,0:0,0:27,31:123,119:10,24:NR_024584.1(LOC728875) n.531+85C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144491731 . G T 7 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+267556G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:G,T:8:8:0:0:5,3:160,74:0.00,6.51:0.00,6.51:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:27,19:2.4,112.3:0,0:0,0:49,31:101,119:25,12:-,NR_024584.1(LOC728875) n.185-9966C>A:-,NOT_FOUND:-,NOT_FOUND 1 144491754 . A G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+267579A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:9:9:0:0:5,4:163,103:0.00,9.50:0.00,9.50:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:27,25:2.4,100.2:0,0:0,0:72,48:78,96:25,16:-,NR_024584.1(LOC728875) n.185-9989T>C:-,NOT_FOUND:-,NOT_FOUND 1 144491871 . T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+267696T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:C,T:12:5:0:0:5,7:162,200:15.05,0.00:3.05,0.00:12.01,0.00:0.92,0.00:0.92,0.00:0.92,0.00:27,39:86.8,6.1:0,0:0,0:78,73:73,78:17,20:NR_024584.1(LOC728875) n.185-10106A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144491917 . G C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+267742G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:C,G:13:2:0:0:5,8:163,252:14.93,0.00:-0.21,0.00:15.14,0.00:0.91,0.00:0.68,0.00:0.91,0.00:27,39:92.8,10.4:0,0:0,0:124,106:27,44:9,16:NR_024584.1(LOC728875) n.185-10152C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144491942 . A G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;PC=0.016;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+267767A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:10:0:0:0:7,3:241,96:0.00,8.38:0.00,0.00:0.00,8.38:0.00,0.62:0.00,0.00:0.00,0.62:39,25:11.9,112.3:0,0:0,0:122,140:29,11:19,9:-,NR_024584.1(LOC728875) n.185-10177T>C:-,NOT_FOUND:-,NOT_FOUND 1 144519860 rs200486718 T C 118 nt VT=SNV;PN=A;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=83;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+295685T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:98:91:0:0:39,59:1283,1768:118.34,0.00:99.37,0.00:18.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,43:46.2,11.7:0,0:0,0:58,34:92,117:27,25:NR_024584.1(LOC728875) n.184+914A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144519899 rs377362148 C A 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=213;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+295724C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:97:85:0:0:17,79,1:569,2513,5:45.57,0.00,-0.32:31.77,0.00,-0.21:13.80,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,42,13:55.9,22.0,29.0:0,0,0:0,0,0:102,63,45:49,87,106:22,29,0:NR_024584.1(LOC728875) n.184+875G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144520021 rs145633456 C G 158 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=118;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+295846C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:68:5:0:0:21,47:588,1540:0.00,158.10:0.00,-0.72:0.00,158.82:0.00,1.00:0.00,1.00:0.00,1.00:53,40:8.4,36.9:0,0:0,0:120,102:30,49:22,31:-,NR_024584.1(LOC728875) n.184+753G>C:-,NOT_FOUND:-,NOT_FOUND 1 144520156 rs28362065 C A 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+295981C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:A,C:10:0:0:0:4,6:140,138:13.03,0.00:0.00,0.00:13.03,0.00:0.84,0.00:0.00,0.00:0.84,0.00:45,57:73.8,29.7:0,0:0,0:101,110:48,40:15,18:NR_024584.1(LOC728875) n.184+618G>T,-:0.29,-:NOT_FOUND,- 1 144520178 rs28422773 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=7;PC=0.014;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+296003G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,G:8:0:0:0:4,4:113,133:10.78,0.00:0.00,0.00:10.78,0.00:0.87,0.00:0.00,0.00:0.87,0.00:45,57:73.8,1.8:0,0:0,0:123,121:26,29:15,11:NR_024584.1(LOC728875) n.184+596C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144520905 rs3124577 A C 202 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1292;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+296730A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:C:56:30:0:0:56:1753:201.85:93.92:107.93:1.00:1.00:1.00:56:42.6:0:0:57:93:31:NR_024584.1(LOC728875) n.87-34T>G,NR_024584.1(LOC728875) n.87-34T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 144521099 rs12405473 A G 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8331,G/0.1669;PC=0.982;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+296924A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:18:2:0:0:4,14:129,468:0.00,49.34:0.00,3.87:0.00,45.47:0.00,1.00:0.00,0.96:0.00,1.00:60,60:2.5,41.0:0,0:0,0:118,113:32,37:10,21:-,NR_024584.1(LOC728875) n.87-228T>C:-,0.15:-,NOT_FOUND 1 144521237 rs12405484 A T 6 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8546,T/0.1454;PC=0.840;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+297062A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T:4:0:0:0:2,2:65,67:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.51:0.00,0.00:0.00,0.51:58,58:84.0,33.5:0,0:0,0:104,100:46,50:10,31:-,NR_024584.1(LOC728875) n.87-366T>A:-,0.17:-,NOT_FOUND 1 144521239 rs79414006 G T 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.994;Gene=NBPF20/NM_001278267.1/1;CC=c.5305+297064G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:4:0:0:0:2,2:69,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:58,58:33.5,84.0:0,0:0,0:102,106:48,44:31,10:-,NR_024584.1(LOC728875) n.87-368C>A:-,0.56:-,NOT_FOUND 1 144536015 rs58940910 C A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.007;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-288690C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:A,C,T:7:6:0:0:4,2,1:120,63,35:12.20,0.00,3.00:7.47,0.00,1.50:4.73,0.00,1.50:0.90,0.00,0.00:0.99,0.00,0.00:0.98,0.00,0.00:60,52,37:58.2,16.5,137.0:3,0,0:0,0,0:48,123,16:98,26,79:17,23,0:chr1 g.144536014C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144536045 rs10907364 C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-288660C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,G,T:11:9:0:0:7,1,3:224,36,83:0.00,2.75,7.07:0.00,1.35,4.52:0.00,1.39,2.55:0.00,0.00,0.60:0.00,0.00,0.91:0.00,0.00,0.89:60,37,60:30.4,139.0,94.3:0,0,0:0,0,0:25,46,72:100,49,78:23,0,12:-,chr1 g.144536044C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144536059 rs10907365 C A 8 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=38;PC=0.027;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-288646C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,C:6:5:0:4:3,3:83,82:7.93,0.00:3.96,0.00:3.97,0.00:0.73,0.00:0.96,0.00:0.96,0.00:60,60:45.3,106.3:0,1:0,0:64,60:55,62:6,28:chr1 g.144536058C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144593713 rs61806645 G T 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-230992G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,T:4:3:0:0:2,2:72,68:0.00,6.55:0.00,2.97:0.00,3.58:0.00,0.51:0.00,0.89:0.00,0.67:42,27:33.0,183.0:0,0:0,0:99,38:52,104:29,17:-,chr1 g.144593712G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144593760 rs4649490 G A 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.007;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-230945G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:11:7:0:0:8,3:268,104:27.82,0.00:13.76,0.00:14.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,50:116.9,26.3:0,0:0,0:28,36:116,115:13,17:chr1 g.144593759G>A (intergenic),-:0.39,-:NOT_FOUND,- 1 144593801 rs4649700 A T 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.014;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-230904A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,T:12:7:0:0:3,9:102,304:0.00,31.76:0.00,11.20:0.00,20.56:0.00,1.00:0.00,1.00:0.00,1.00:50,52:11.0,99.0:0,0:0,0:70,57:80,75:7,12:-,chr1 g.144593800A>T (intergenic):-,0.39:-,NOT_FOUND 1 144593874 rs587612873 C CG 14 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=649;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-230830dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,CG:11:5:5:0:6,5:198,154:0.00,14.49:0.00,3.14:0.00,11.35:0.00,0.93:0.00,0.95:0.00,0.93:52,51:38.3,122.6:0,0:0,0:140,118:2,33:8,9:-,chr1 g.144593874_144593875insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144593877 rs61806646 A G 22 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9613,T/0.03874;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-230828A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G:8:3:0:0:2,6:63,206:0.00,21.51:0.00,3.60:0.00,17.91:0.00,1.00:0.00,0.99:0.00,1.00:50,45:16.5,114.5:0,6:0,0:128,109:22,40:17,10:-,chr1 g.144593876A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144593881 rs61806647 A C 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=659;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-230824A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C:9:3:0:0:3,6:96,204:0.00,20.77:0.00,3.42:0.00,17.35:0.00,0.99:0.00,0.97:0.00,1.00:50,51:26.3,119.7:0,0:0,0:115,121:36,28:25,10:-,chr1 g.144593880A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144598641 rs1698687 C T 204 lc VT=SNV;PN=A;NN=G;SST=Single;DP=289;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-226064C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:289:225:0:0:214,75:6774,2398:0.00,203.79:0.00,121.79:0.00,82.01:0.00,1.00:0.00,1.00:0.00,1.00:52,51:8.6,77.3:0,0:0,0:69,75:77,75:34,39:-,chr1 g.144598640C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144598659 rs1699854 C T 203 lc VT=SNV;PN=A;NN=T;SST=Single;DP=309;DB;DBA=NA;PAF=NA;NP=2400;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-226046C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:309:228:0:0:232,77:7750,2412:0.00,202.63:0.00,121.71:0.00,80.92:0.00,1.00:0.00,1.00:0.00,1.00:52,51:9.4,81.2:0,0:0,0:66,73:84,67:35,40:-,chr1 g.144598658C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144598755 rs2660554 G A 201 lc VT=SNV;PN=C;NN=A;SST=Single;DP=289;DB;DBA=NA;PAF=NA;NP=2601;PC=0.015;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-225950G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:289:161:0:0:75,211,3:2363,6788,25:200.64,0.00,-0.71:78.73,0.00,-0.35:121.91,0.00,-0.36:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,52,42:63.2,10.4,102.3:0,0,0:0,0,0:79,81,38:58,66,113:38,38,1:chr1 g.144598754G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144598781 . G . . NT END=144604477;NT GT ./. 1 144598889 rs2655813 G A 131 nt VT=SNV;PN=T;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=NA;PC=0.022;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-225816G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:19:0:0:47,47:1367,1543:130.76,0.00:15.85,0.00:114.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:72.0,21.9:0,0:0,0:114,95:36,53:22,27:chr1 g.144598888G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144598927 rs2660553 A G 144 nt VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=575;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-225778A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:10:0:0:24,44:784,1420:0.00,143.78:0.00,13.49:0.00,130.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,89.0:0,0:0,0:106,91:43,55:26,42:-,chr1 g.144598926A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144598950 rs2660552 A G 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-225755A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:49:2:0:0:19,2,27,1:608,21,868,10:0.00,0.35,86.04,0.02:0.00,-0.01,3.24,-0.00:0.00,0.36,82.79,0.02:0.00,0.00,1.00,0.00:0.00,0.00,0.83,0.00:0.00,0.00,1.00,0.00:60,60,56,9:11.3,115.0,99.9,110.0:0,0,0,0:0,0,0,0:103,79,57,99:45,55,92,33:30,7,35,0:-,chr1 g.144598949A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144598975 rs2655812 T C 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-225730T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:0:0:0:19,24:521,809:48.25,0.00:0.00,0.00:48.25,0.00:1.00,0.00:0.00,0.00:1.00,0.00:53,60:107.9,43.7:0,0:0,0:79,88:72,61:35,37:chr1 g.144598974T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144599051 rs78268502 G A 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=27;PC=0.007;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-225654G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:0:0:0:9,13:264,428:24.21,0.00:0.00,0.00:24.21,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:78.6,55.3:0,0:0,0:107,115:44,36:34,21:chr1 g.144599050G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144599105 rs6666535 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=271;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-225600G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:7:0:0:0:3,4:95,124:8.86,0.00:0.00,0.00:8.86,0.00:0.69,0.00:0.00,0.00:0.69,0.00:53,48:60.3,58.8:0,0:0,0:132,102:19,47:15,6:chr1 g.144599104G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144604252 rs201523810 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=4;PC=0.030;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-220453C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:11:11:0:0:8,3:213,102:0.00,8.84:0.00,8.84:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:55,27:20.1,97.7:0,0:0,0:19,11:131,139:15,4:-,chr1 g.144604251C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144604352 rs151180203 C T 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=572;PC=0.050;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-220353C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:20:0:0:12,9:353,291:0.00,27.18:0.00,27.55:0.00,-0.36:0.00,1.00:0.00,1.00:0.00,0.73:50,27:34.6,67.4:0,0:0,0:87,94:60,56:21,17:-,chr1 g.144604351C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144604425 rs374666901 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.030;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-220280C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,T:18:7:0:0:13,5:409,142:0.00,11.97:0.00,7.83:0.00,4.14:0.00,0.87:0.00,0.87:0.00,0.97:40,27:14.6,59.4:0,0:0,0:66,136:85,15:41,6:-,chr1 g.144604424C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144604509 . G . . NT END=144606368;NT GT ./. 1 144606511 . G . . NT END=144614839;NT GT ./. 1 144606628 . T C 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-218077T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:4:0:0:12,25:365,791:32.11,0.00:-0.43,0.00:32.54,0.00:1.00,0.00:0.79,0.00:1.00,0.00:40,59:61.8,10.3:0,0:0,0:108,101:42,50:8,36:chr1 g.144606627T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144606659 . C G 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-218046C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:30:0:0:0:21,9:646,280:0.00,24.34:0.00,0.00:0.00,24.34:0.00,0.99:0.00,0.00:0.00,0.99:59,40:10.9,70.1:0,0:0,0:95,135:56,16:30,4:-,chr1 g.144606658C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144614481 rs9441105 A T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.231;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-210224A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,T:6:6:0:0:2,4:67,129:0.00,13.15:0.00,13.15:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:51,58:5.5,63.8:1,0:0,0:55,57:95,94:21,33:-,NR_003242.2(PFN1P2) n.-1754T>A:-,0.43:-,NOT_FOUND 1 144614626 rs4067684 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=234;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-210079G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:28:28:0:0:5,23:134,752:10.11,0.00:10.11,0.00:0.00,0.00:0.81,0.00:0.81,0.00:0.00,0.00:39,40:60.0,16.5:0,0:0,0:70,45:80,106:40,27:NR_003242.2(PFN1P2) n.-1899C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144614842 rs147441394 C G 152 lc VT=SNV;PN=C;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=NA;NP=193;NP=2;PC=0.041;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-209863C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:156:114:0:0:1,99,55,1:11,3077,1688,11:-0.18,0.00,151.50,-0.18:-0.12,0.00,131.93,-0.04:-0.05,0.00,19.57,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,60,51,27:88.0,8.1,50.7,47.0:0,0,0,0:0,0,0,0:69,79,32,42:82,55,118,108:0,27,22,0:-,NR_003242.2(PFN1P2) n.-2115G>C:-,NOT_FOUND:-,NOT_FOUND 1 144614931 rs149803590 G A 207 lc VT=SNV;PN=C;NN=A;SST=Single;DP=193;DB;DBA=NA;PAF=NA;NP=1684;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-209774G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:193:125:0:0:69,124:2286,3935:206.90,0.00:124.70,0.00:82.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,57:55.4,11.0:0,0:0,0:67,72:84,79:29,33:NR_003242.2(PFN1P2) n.-2204C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144614999 . G . . NT END=144619346;NT GT ./. 1 144615080 rs3896864 A G 117 nt VT=SNV;PN=G;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=507;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-209625A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.-51A>G;VC=5UTR;Gene=NBPF9/NM_001037675.3/0;CC=c.-35-16A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-35-16A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:94:50:0:0:52,1,41:1656,7,1252:0.00,-0.20,117.03:0.00,-0.15,29.54:0.00,-0.05,87.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,23,40:13.8,111.0,59.5:0,0,0:0,0,0:49,17,113:100,133,38:36,0,25:-,NR_003242.2(PFN1P2) n.-2353T>C:-,NOT_FOUND:-,NOT_FOUND 1 144615102 rs587710355 A G 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=268;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-209603A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.-29A>G;VC=5UTR;Gene=NBPF9/NM_001037675.3/0;CC=c.-29A>G;VC=5UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-29A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:96:53:0:0:75,20,1:2267,640,10:0.00,52.34,-0.23:0.00,2.95,-0.19:0.00,49.40,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,40,23:18.4,91.7,111.0:0,0,0:0,0,0:43,77,39:106,72,111:31,33,0:-,NR_003242.2(PFN1P2) n.-2375T>C:-,NOT_FOUND:-,NOT_FOUND 1 144615104 rs587609742 T C 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=486;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-209601T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.-27T>C;VC=5UTR;Gene=NBPF9/NM_001037675.3/0;CC=c.-27T>C;VC=5UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-27T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:56:0:0:19,78:598,2495:48.05,0.00:5.00,0.00:43.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:91.4,19.8:0,0:0,0:77,40:74,109:35,28:NR_003242.2(PFN1P2) n.-2377A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144615246 rs200815869 A AAG 83 nt VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=80;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-209455_5306-209454dupGA;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.120_121dupGA;ProtCh=p.M41Rfs*903;VC=FrameShiftIns;Gene=NBPF9/NM_001037675.3/0;CC=c.120_121dupGA;ProtCh=p.M41Rfs*903;VC=FrameShiftIns;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.120_121dupGA;ProtCh=p.M41Rfs*1072;VC=FrameShiftIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAG:86:44:35:0:51,35:1538,918:0.00,82.80:0.00,47.86:0.00,34.94:0.00,1.00:0.00,1.00:0.00,1.00:60,51:9.2,14.1:1,0:0,0:84,66:61,83:44,18:-,NR_003242.2(PFN1P2) n.-2520_-2519insCT:-,0.26:-,NOT_FOUND 1 144617119 rs12057892 A C 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.106;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-207586A>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.174-31A>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.174-31A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.174-31A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,C:11:11:0:0:3,8:105,242:0.00,25.21:0.00,25.21:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,40:0.0,54.6:0,0:0,0:46,62:104,89:2,35:-,NR_003242.2(PFN1P2) n.-4392T>G:-,0.42:-,NOT_FOUND 1 144617976 rs201760038 C T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.051;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206729C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.277-106C>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.277-106C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.277-106C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,T:18:18:0:0:13,5:430,149:0.00,12.67:0.00,12.67:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:51,40:10.1,196.4:0,0:0,0:66,26:85,122:43,10:-,NR_003242.2(PFN1P2) n.-5249G>A:-,NOT_FOUND:-,NOT_FOUND 1 144617979 rs199539741 G C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206726G>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.277-103G>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.277-103G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.277-103G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,G:20:20:0:0:5,15:160,521:13.50,0.00:13.50,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:40,51:196.4,11.1:0,0:0,0:29,67:119,84:10,45:NR_003242.2(PFN1P2) n.-5252C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144617992 rs146083536 T A 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=5;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206713T>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.277-90T>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.277-90T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.277-90T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:24:24:0:0:9,1,14:266,27,447:24.19,1.55,0.00:24.19,1.55,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:40,17,51:169.3,27.0,9.9:0,0,0:0,0,0:28,147,75:123,3,75:21,0,40:NR_003242.2(PFN1P2) n.-5265A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144617994 . A G 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206711A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.277-88A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.277-88A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.277-88A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:24:0:0:15,9:466,281:0.00,25.51:0.00,25.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:51,40:11.1,169.3:0,0:0,0:82,30:69,121:45,21:-,NR_003242.2(PFN1P2) n.-5267T>C:-,NOT_FOUND:-,NOT_FOUND 1 144618000 . G A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206705G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.277-82G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.277-82G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.277-82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:A,G:28:28:0:0:7,21:215,651:18.01,0.00:16.42,0.00:1.59,0.00:0.96,0.00:0.96,0.00:0.50,0.00:51,52:153.1,55.0:0,0:0,0:15,42:135,108:5,38:NR_003242.2(PFN1P2) n.-5273C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144618009 rs201191720 A G 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=1393;PC=0.042;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206696A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.277-73A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.277-73A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.277-73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:40:0:0:21,20:640,607:0.00,57.86:0.00,54.43:0.00,3.43:0.00,1.00:0.00,1.00:0.00,0.88:52,52:40.0,121.4:0,0:0,0:43,18:106,129:39,14:-,NR_003242.2(PFN1P2) n.-5282T>C:-,NOT_FOUND:-,NOT_FOUND 1 144618070 rs55646423 G A 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206635G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.277-12G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.277-12G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.277-12G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:82:0:0:23,66:728,1914:61.74,0.00:48.87,0.00:12.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,52:77.7,60.1:0,0:0,0:44,41:107,107:21,21:NR_003242.2(PFN1P2) n.-5343C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144618123 rs61809735 C T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=2505;PC=0.167;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206582C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.318C>T;ProtCh=p.D106=;VC=Silent;Gene=NBPF9/NM_001037675.3/0;CC=c.318C>T;ProtCh=p.D106=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.318C>T;ProtCh=p.D106=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:94:0:0:94,14:2848,429:0.00,31.60:0.00,20.08:0.00,11.52:0.00,1.00:0.00,1.00:0.00,1.00:60,43:55.3,93.8:0,0:0,0:83,72:63,74:30,32:-,NR_003242.2(PFN1P2) n.-5396G>A:-,NOT_FOUND:-,NOT_FOUND 1 144618144 rs28691033 A G 344 nt VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=0.278;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206561A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.339A>G;ProtCh=p.T113=;VC=Silent;Gene=NBPF9/NM_001037675.3/0;CC=c.339A>G;ProtCh=p.T113=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.339A>G;ProtCh=p.T113=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:105:85:0:0:1,102,2:9,2975,26:0.08,343.99,0.63:0.00,208.13,0.63:0.08,135.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,60,52:81.0,56.0,158.5:0,0,0:0,0,0:119,91,128:31,52,22:0,26,15:NR_003242.2(PFN1P2) n.-5417T>C,NR_003242.2(PFN1P2) n.-5417T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 144618201 rs61809737 T C 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206504T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.396T>C;ProtCh=p.S132=;VC=Silent;Gene=NBPF9/NM_001037675.3/0;CC=c.396T>C;ProtCh=p.S132=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.396T>C;ProtCh=p.S132=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:79:39:0:0:33,46:915,1396:83.85,0.00:5.89,0.00:77.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:61.8,40.0:0,0:0,0:87,116:64,34:38,24:NR_003242.2(PFN1P2) n.-5474A>G,-:0.14,-:NOT_FOUND,- 1 144618354 rs61809738 T C 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206351T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.491+58T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.491+58T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.491+58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:2:0:0:12,16:379,525:35.32,0.00:3.27,0.00:32.05,0.00:1.00,0.00:0.73,0.00:1.00,0.00:52,60:56.5,4.8:0,0:0,0:71,94:80,56:30,27:NR_003242.2(PFN1P2) n.-5627A>G,-:0.54,-:NOT_FOUND,- 1 144618403 rs113916638 A T 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1492;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-206302A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.491+107A>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.491+107A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.491+107A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,G,T:23:3:0:0:19,1,3:571,12,88:0.00,0.10,6.43:0.00,-0.05,-0.15:0.00,0.14,6.58:0.00,0.00,0.47:0.00,0.00,0.40:0.00,0.00,0.88:60,57,41:20.9,24.0,97.3:0,0,0:0,0,0:103,14,118:48,137,33:39,0,4:-,NR_003242.2(PFN1P2) n.-5676T>A:-,NOT_FOUND:-,NOT_FOUND 1 144619318 rs4067676 G A 163 nt VT=SNV;PN=A;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=3067;PC=0.179;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-205387G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.492-29G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.492-29G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.492-29G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:104:68:0:0:54,50:1689,1674:163.30,0.00:95.73,0.00:67.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.0,4.7:0,0:0,0:62,81:85,59:38,40:NR_003242.2(PFN1P2) n.-6591C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144619346 rs4649563 G A 146 lc VT=SNV;PN=A;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=0.959;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-205359G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.492-1G>A;VC=SpliceSiteCDS;Gene=NBPF9/NM_001037675.3/0;CC=c.492-1G>A;VC=SpliceSiteCDS;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.492-1G>A;VC=SpliceSiteCDS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:105:70:0:0:49,56:1537,1910:145.53,0.00:77.07,0.00:68.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.2,11.9:0,0:0,0:67,65:84,77:31,42:NR_003242.2(PFN1P2) n.-6619C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144619420 . G . . NT END=144619882;NT GT ./. 1 144619483 rs4067648 A C 136 nt VT=SNV;PN=A;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-205222A>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.564+64A>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.564+64A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.564+64A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:80:44:0:0:35,45:1117,1384:0.00,135.90:0.00,51.96:0.00,83.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,52.1:0,0:0,0:105,95:46,43:23,29:-,NR_003242.2(PFN1P2) n.-6756T>G:-,0.61:-,NOT_FOUND 1 144619505 rs4067649 A G 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=1125;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-205200A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.564+86A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.564+86A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.564+86A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,G:75:31:0:0:68,7:2055,188:0.00,12.21:0.00,6.09:0.00,6.12:0.00,0.88:0.00,0.87:0.00,0.99:60,27:22.7,96.6:0,0:0,0:103,68:48,83:30,44:-,NR_003242.2(PFN1P2) n.-6778T>C:-,NOT_FOUND:-,NOT_FOUND 1 144619903 rs71527379 T A 62 lc VT=SNV;PN=G;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-204802T>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.585T>A;ProtCh=p.S195R;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.585T>A;ProtCh=p.S195R;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.585T>A;ProtCh=p.S195R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:150:108:0:0:24,126:792,3989:62.05,0.00:7.86,0.00:54.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,55:51.2,6.5:0,0:0,0:79,49:72,99:32,24:NR_003242.2(PFN1P2) n.-7176A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144620009 rs200933214 T C 59 lc VT=SNV;PN=T;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-204696T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.691T>C;ProtCh=p.*231Rext*0;VC=Readthrough;Gene=NBPF9/NM_001037675.3/0;CC=c.691T>C;ProtCh=p.*231Rext*0;VC=Readthrough;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.691T>C;ProtCh=p.*231Rext*0;VC=Readthrough GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:105:44:0:0:24,81:719,2565:58.87,0.00:16.95,0.00:41.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:60.9,12.0:0,0:0,0:88,113:61,37:35,26:NR_003242.2(PFN1P2) n.-7282A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144620091 rs61810898 C T 48 lc VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.054;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-204614C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.773C>T;ProtCh=p.P258L;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.773C>T;ProtCh=p.P258L;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.773C>T;ProtCh=p.P258L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:59:14:0:0:41,1,17:1179,5,549:0.00,-0.27,47.80:0.00,-0.00,11.47:0.00,-0.26,36.33:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:42,25,40:7.6,32.0,53.6:0,0,0:0,0,0:83,110,100:66,41,51:28,0,20:-,NR_003242.2(PFN1P2) n.-7364G>A:-,NOT_FOUND:-,NOT_FOUND 1 144620095 . G . . NT END=144852353;NT GT ./. 1 144621353 rs4067657 A G 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-203352A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.777-94A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.777-94A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.777-94A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,G:86:85:0:0:79,7:2456,237:0.00,16.51:0.00,16.55:0.00,-0.03:0.00,0.86:0.00,0.99:0.00,0.39:50,40:15.8,50.3:0,0:0,0:49,27:102,124:31,19:-,chr1 g.144621352A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144621374 rs138385062 C A 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=655;PC=0.115;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-203331C>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.777-73C>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.777-73C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.777-73C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:103:100:0:0:20,83:675,2567:55.04,0.00:55.32,0.00:-0.28,0.00:1.00,0.00:1.00,0.00:0.52,0.00:42,43:41.3,13.4:0,0:0,0:83,53:67,98:30,32:chr1 g.144621373C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144621555 rs61810914 A G 135 nt VT=SNV;PN=C;NN=C;SST=Single;DP=244;DB;DBA=NA;PAF=NA;NP=457;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-203150A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.885A>G;ProtCh=p.A295=;VC=Silent;Gene=NBPF9/NM_001037675.3/0;CC=c.885A>G;ProtCh=p.A295=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.885A>G;ProtCh=p.A295=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:244:122:0:0:194,1,48,1:5775,12,1643,13:0.00,-0.27,134.95,-0.25:0.00,-0.06,37.65,-0.04:0.00,-0.21,97.31,-0.21:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,40,42,40:7.7,156.0,80.5,35.0:0,0,0,0:0,0,0,0:95,114,49,138:55,36,102,13:29,0,7,0:-,chr1 g.144621554A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144621667 . C T 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=116;NP=587;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-203038C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.986+11C>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.986+11C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.986+11C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,C,G,T:116:35:0:0:1,104,1,10:9,3392,10,311:-0.34,0.00,-0.32,21.17:-0.08,0.00,-0.08,1.77:-0.25,0.00,-0.23,19.40:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.88:0.00,0.00,0.00,1.00:53,60,17,53:71.0,7.2,208.0,98.6:0,0,0,0:0,0,0,0:72,99,69,142:72,48,80,3:0,27,0,7:-,chr1 g.144621666C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144621804 rs11485970 G T 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=880;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-202901G>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.986+148G>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.986+148G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.986+148G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,T:25:0:0:0:22,3:637,98:0.00,7.26:0.00,0.00:0.00,7.26:0.00,0.46:0.00,0.00:0.00,0.46:55,42:22.4,66.3:0,0:0,0:120,122:31,29:16,2:-,chr1 g.144621803G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144621817 rs11488524 G C 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=494;PC=0.012;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-202888G>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.986+161G>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.986+161G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.986+161G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:C,G:27:0:0:0:3,24:91,708:6.45,0.00:0.00,0.00:6.45,0.00:0.44,0.00:0.00,0.00:0.44,0.00:42,55:66.3,24.2:0,0:0,0:135,126:16,24:2,18:chr1 g.144621816G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 144621942 rs4990356 G T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=143;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-202763G>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.986+286G>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.986+286G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.986+286G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:G,T:8:0:0:0:5,3:144,88:0.00,7.94:0.00,0.00:0.00,7.94:0.00,0.67:0.00,0.00:0.00,0.67:40,40:42.2,60.3:0,0:0,0:128,43:23,107:7,7:-,chr1 g.144621941G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144676632 rs75239917 T C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=75;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-148073T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.986+54976T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.986+54976T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.986+54976T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G,T:38:36:0:0:5,1,32:141,13,1054:10.16,0.02,0.00:10.50,0.09,0.00:-0.34,-0.06,0.00:0.77,0.00,0.00:0.97,0.00,0.00:0.66,0.00,0.00:27,43,52:80.2,59.0,11.4:0,0,0:0,0,0:120,138,45:31,13,103:6,0,30:NR_037182.1(LOC653513) n.675A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144676646 rs75500033 T C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=58;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-148059T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.986+54990T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.986+54990T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.986+54990T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,T:39:35:0:0:8,31:240,1027:19.23,0.00:19.98,0.00:-0.75,0.00:0.97,0.00:1.00,0.00:0.87,0.00:27,53:68.0,12.8:0,0:0,0:122,50:29,98:13,25:NR_037182.1(LOC653513) n.661A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144680070 rs150219082 T C 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-144635T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.986+58414T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.986+58414T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.986+58414T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:307:35.45:0.00:35.45:1.00:0.00:1.00:41:33.7:0:0:128:21:18:NR_037182.1(LOC653513) n.-45A>G,NR_037182.1(LOC653513) n.-45A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 144811517 rs28481542 G T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.219;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-13188G>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-2225G>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-2225G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-2225G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:G,T:13:13:0:0:10,3:312,104:0.00,8.78:0.00,8.78:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:43,23:18.4,59.7:0,0:0,0:52,41:98,110:36,1:-,NM_001037675.2(NBPF9) c.-76-u226G>T:-,NOT_FOUND:-,NOT_FOUND 1 144811654 rs3979895 A G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=19;PC=0.129;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-13051A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-2088A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-2088A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-2088A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,G:37:37:0:0:34,3:1088,98:0.00,6.71:0.00,6.73:0.00,-0.02:0.00,0.38:0.00,0.38:0.00,0.39:50,22:7.1,68.3:0,0:0,0:54,97:96,54:31,44:-,NM_001037675.2(NBPF9) c.-76-u89A>G:-,NOT_FOUND:-,NOT_FOUND 1 144811663 . G A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;NP=78;PC=0.073;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-13042G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-2079G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-2079G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-2079G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,G:40:40:0:0:6,34:192,1136:14.72,0.00:14.93,0.00:-0.21,0.00:0.88,0.00:0.88,0.00:0.60,0.00:40,50:38.5,7.0:0,0:0,0:30,63:118,87:21,37:NM_001037675.2(NBPF9) c.-76-u80G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144811810 . A G 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;NP=5;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12895A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1932A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1932A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1932A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:92:72:0:0:72,20:2228,565:0.00,45.18:0.00,39.83:0.00,5.35:0.00,1.00:0.00,1.00:0.00,0.98:40,40:39.0,135.2:0,0:0,0:87,56:61,93:38,41:-,NM_001037675.2(NBPF9) c.841A>G (p.Ser281Gly):-,NOT_FOUND:-,NOT_FOUND 1 144811823 rs9725770 A C 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12882A>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1919A>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1919A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1919A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:95:79:0:0:73,21,1:2282,735,11:0.00,61.85,-0.21:0.00,57.21,-0.29:0.00,4.64,0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.96,0.00:40,40,23:46.1,144.2,173.0:0,0,0:0,0,0:77,46,87:74,105,63:44,31,0:-,NM_001037675.2(NBPF9) c.854A>C (p.Glu285Ala):-,0.07:-,NOT_FOUND 1 144811827 rs9730002 G A 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12878G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1915G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1915G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1915G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:93:78:0:0:21,1,71:665,12,2284:55.08,-0.17,0.00:50.05,-0.28,0.00:5.03,0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.95,0.00,0.00:40,40,40:144.2,90.0,46.5:0,0,0:0,0,0:50,15,78:101,136,72:31,0,39:NM_001037675.2(NBPF9) c.858G>A (p.Met286Ile),-:0.07,-:NOT_FOUND,- 1 144811836 rs320820 G A 339 nt VT=SNV;PN=T;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.08946,G/0.9105;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12869G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1906G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1906G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1906G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:93:81:0:0:93:2943:338.54:288.40:50.14:1.00:1.00:1.00:48:76.7:0:0:62:89:40:NM_001037675.2(NBPF9) c.=,NM_001037675.2(NBPF9) c.=:0.7,0.7:NOT_FOUND,NOT_FOUND 1 144811924 rs320821 T G 476 nt VT=SNV;PN=G;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.01038,A/.,T/0.9896;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12781T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1818T>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1818T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1818T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:129:65:0:0:2,127:44,4165:2.20,475.92:1.03,178.04:1.17,297.88:0.00,1.00:0.00,1.00:0.00,1.00:57,60:105.0,73.6:0,0:0,0:83,63:66,87:46,20:NM_001037675.2(NBPF9) c.=,NM_001037675.2(NBPF9) c.=:0.89,0.89:NOT_FOUND,NOT_FOUND 1 144811969 rs9725786 A T 92 nt VT=SNV;PN=T;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=NA;NP=2708;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12736A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1773A>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1773A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1773A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:131:44:0:0:98,1,32:3288,5,1084:0.00,-0.32,92.17:0.00,-0.08,25.82:0.00,-0.25,66.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,56,53:41.0,128.0,141.5:0,0,0:0,0,0:91,83,96:59,57,49:29,0,27:-,NM_001037675.2(NBPF9) c.988+12A>T:-,NOT_FOUND:-,NOT_FOUND 1 144811998 . C G 77 nt VT=SNV;PN=A;NN=G;SST=Single;DP=117;NP=227;NP=56;NP=8;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12707C>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1744C>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1744C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1744C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:117:21:0:0:4,85,28:118,2561,912:6.59,0.00,77.12:-0.12,0.00,18.64:6.71,0.00,58.48:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:26,60,53:144.5,29.6,154.9:0,0,0:0,0,0:138,113,119:13,37,31:10,22,24:-,NM_001037675.2(NBPF9) c.988+41C>G:-,NOT_FOUND:-,NOT_FOUND 1 144812018 rs9730030 G A 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.9954,G/0.004593;NP=3;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12687G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1724G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1724G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1724G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:89:10:0:0:19,1,69:587,9,2280:47.84,-0.25,0.00:4.04,-0.02,0.00:43.80,-0.22,0.00:1.00,0.00,0.00:0.87,0.00,0.00:1.00,0.00,0.00:52,52,60:192.5,216.0,21.6:0,0,0:0,0,0:98,100,103:52,50,48:21,0,32:NM_001037675.2(NBPF9) c.988+61G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144812019 rs587672745 A C 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12686A>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1723A>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1723A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1723A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:87:10:0:0:68,19:2182,639:0.00,53.15:0.00,4.19:0.00,48.96:0.00,1.00:0.00,0.87:0.00,1.00:60,56:24.6,192.5:0,0:0,0:102,100:46,51:33,20:-,NM_001037675.2(NBPF9) c.988+62A>C:-,NOT_FOUND:-,NOT_FOUND 1 144812025 . G A 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=81;NP=2;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12680G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1717G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1717G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1717G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:6:0:0:19,62:602,2035:50.13,0.00:1.28,0.00:48.85,0.00:1.00,0.00:0.77,0.00:1.00,0.00:52,60:184.1,22.8:0,0:0,0:99,101:52,48:24,31:NM_001037675.2(NBPF9) c.988+68G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144812060 rs9725799 A G 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=579;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-12645A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-1682A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-1682A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-1682A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:1:0:0:42,15:1316,483:0.00,41.21:0.00,-0.07:0.00,41.27:0.00,1.00:0.00,0.51:0.00,1.00:60,52:13.3,174.0:0,0:0,0:113,105:38,45:24,36:-,NM_001037675.2(NBPF9) c.988+103A>G:-,NOT_FOUND:-,NOT_FOUND 1 144813718 rs320823 A G 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.576;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-10987A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.987-24A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.987-24A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.987-24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:12:12:0:0:4,8:133,253:0.00,25.80:0.00,26.04:0.00,-0.24:0.00,1.00:0.00,1.00:0.00,0.78:54,40:2.2,32.8:0,0:0,0:18,74:131,76:15,54:-,NM_001037675.2(NBPF9) c.989-24A>G:-,0.4:-,NOT_FOUND 1 144813815 rs371436644 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=42;PC=0.031;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-10890A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1060A>G;ProtCh=p.R354G;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.1060A>G;ProtCh=p.R354G;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1060A>G;ProtCh=p.R354G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,G:31:25:0:0:25,6:850,193:0.00,15.55:0.00,9.12:0.00,6.43:0.00,0.90:0.00,0.98:0.00,0.97:55,40:10.8,67.2:0,0:0,0:71,42:73,100:20,14:-,NM_001037675.2(NBPF9) c.1062A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 144813909 . G A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;NP=1;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-10796G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1089+65G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1089+65G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1089+65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G:18:4:0:0:3,15:106,489:8.51,0.00:1.53,0.00:6.98,0.00:0.52,0.00:0.53,0.00:0.52,0.00:40,42:81.0,9.4:0,0:0,0:120,88:31,63:15,30:NM_001037675.2(NBPF9) c.1091+65G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144815025 rs149154755 A C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-9680A>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1304+131A>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1304+131A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1304+131A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:14:0:0:0:8,6:262,203:0.00,19.01:0.00,0.00:0.00,19.01:0.00,0.96:0.00,0.00:0.00,0.96:60,40:11.0,35.2:0,0:0,0:69,82:80,69:49,43:-,NM_001037675.2(NBPF9) c.1306+131A>C:-,0.06:-,NOT_FOUND 1 144815968 rs200833830 G A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.6989,A/0.3011;NP=1726;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-8737G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1337G>A;ProtCh=p.S446N;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.1337G>A;ProtCh=p.S446N;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1337G>A;ProtCh=p.S446N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:31:21:0:0:3,28:97,901:6.86,0.00:4.92,0.00:1.93,0.00:0.42,0.00:0.78,0.00:0.70,0.00:40,40:56.7,11.7:0,0:0,0:74,55:77,85:12,38:NM_001037675.2(NBPF9) c.1339G>A (p.Val447Ile),-:NOT_FOUND,-:NOT_FOUND,- 1 144816211 rs61807096 G A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6813,A/0.3187;NP=609;PC=0.021;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-8494G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1377+203G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1377+203G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1377+203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:8:0:0:7,11:225,339:20.63,0.00:12.62,0.00:8.00,0.00:0.98,0.00:0.97,0.00:0.98,0.00:56,56:51.1,13.3:0,0:0,0:97,95:53,55:35,29:NM_001037675.2(NBPF9) c.1379+203G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144816305 rs320826 C G 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.3908,G/0.6092;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-8400C>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1378-168C>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1378-168C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1378-168C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:25:0:0:12,13:379,410:0.00,39.69:0.00,39.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,57:8.8,51.5:0,0:0,0:53,42:96,109:21,27:-,NM_001037675.2(NBPF9) c.1380-168C>G:-,0.58:-,NOT_FOUND 1 144816441 . T G 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=180;NP=1;NP=34;PC=0.034;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-8264T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1378-32T>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1378-32T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1378-32T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:180:168:0:0:24,156:742,5248:55.11,0.00:42.33,0.00:12.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,56:37.1,6.8:0,0:0,0:48,43:103,108:30,29:NM_001037675.2(NBPF9) c.1380-32T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144816621 . A G 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=181;NP=907;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-8084A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1526A>G;ProtCh=p.N509S;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.1526A>G;ProtCh=p.N509S;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1526A>G;ProtCh=p.N509S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:181:80:0:0:157,24:4571,767:0.00,57.51:0.00,10.70:0.00,46.81:0.00,1.00:0.00,1.00:0.00,1.00:60,51:10.0,43.1:0,0:0,0:99,131:49,20:32,8:-,NM_001037675.2(NBPF9) c.1528A>G (p.Thr510Ala):-,NOT_FOUND:-,NOT_FOUND 1 144816724 rs370306464 G A 85 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1049;PC=0.032;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-7981G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1583+46G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1583+46G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1583+46G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:12:0:0:28,38:910,1288:84.81,0.00:13.11,0.00:71.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:37.1,3.5:0,0:0,0:95,98:53,51:31,27:NM_001037675.2(NBPF9) c.1585+46G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144822920 . A T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1785A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1800-208A>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1800-208A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1800-208A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,T:19:19:0:0:15,4:487,135:0.00,11.16:0.00,11.16:0.00,0.00:0.00,0.72:0.00,0.72:0.00,0.00:58,20:7.5,66.5:0,0:0,0:24,35:127,115:12,6:-,NM_001037675.2(NBPF9) c.1802-208A>T:-,NOT_FOUND:-,NOT_FOUND 1 144822993 . G C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1712G>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1800-135G>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1800-135G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1800-135G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:C,G:37:37:0:0:3,34:101,1105:7.01,0.00:7.03,0.00:-0.02,0.00:0.38,0.00:0.38,0.00:0.39,0.00:20,40:33.7,19.2:0,0:0,0:95,60:56,91:5,37:NM_001037675.2(NBPF9) c.1802-135G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144823086 rs144745201 G A 161 nt VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1619G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1800-42G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1800-42G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1800-42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:107:96:0:0:50,1,56:1686,6,1874:160.63,-0.19,0.00:112.15,-0.15,0.00:48.48,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,21,43:40.4,18.0,6.7:0,0,1:0,0,0:43,16,54:103,134,88:26,0,27:NM_001037675.2(NBPF9) c.1802-42G>A,-:0.02,-:0.042313,- 1 144823289 rs61807118 C A 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=756;PC=0.016;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1416C>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1851+110C>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1851+110C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1851+110C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:34:2:0:0:14,20:467,688:43.38,0.00:6.38,0.00:36.99,0.00:1.00,0.00:0.71,0.00:1.00,0.00:40,40:34.2,15.5:0,0:0,0:73,70:76,81:22,44:NM_001037675.2(NBPF9) c.1853+110C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144823297 rs199960925 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1408T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1851+118T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1851+118T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1851+118T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:C,T:34:3:0:0:6,28:189,910:14.89,0.00:-0.25,0.00:15.14,0.00:0.89,0.00:0.49,0.00:0.99,0.00:23,40:31.5,25.9:0,0:0,0:65,79:85,71:13,40:NM_001037675.2(NBPF9) c.1853+118T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144823556 rs61807119 T A 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.6763,A/0.3237;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1149T>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1852-257T>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1852-257T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1852-257T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:40:36:0:0:23,17:711,534:70.20,0.00:59.96,0.00:10.24,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:56.4,54.5:0,0:0,0:48,44:97,107:30,37:NM_001037675.2(NBPF9) c.1854-257T>A,-:0.32,-:NOT_FOUND,- 1 144823571 rs72022450 CTGTTTG C 28 idl,nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=16;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1130_5306-1125delTTGTGT;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1852-238_1852-233delTTGTGT;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1852-238_1852-233delTTGTGT;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1852-238_1852-233delTTGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTGTTTG,C:32:36:0:19:20,12:649,481:0.00,28.32:0.00,25.11:0.00,3.21:0.00,1.00:0.00,1.00:0.00,0.61:60,60:59.1,85.0:2,6:0,0:58,47:93,103:39,20:-,NM_001037675.2(NBPF9) c.1854-241_1854-236delTGTTTG:-,0.41:-,NOT_FOUND 1 144823575 rs600886 T G 70 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1130T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1852-238T>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1852-238T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1852-238T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:17:0:21:18:615:70.08:66.31:3.78:1.00:1.00:1.00:60:61.1:0:0:58:92:40:NM_001037675.2(NBPF9) c.1854-238T>G,NM_001037675.2(NBPF9) c.1854-238T>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 144823605 . CTG C,CTGTG 47 idl,nt VT=DEL;SST=Single;DP=45;NP=12;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:163:A,CTG,T,CTGTG,C:44:44:15:19:1,10,1,15,17:7,286,8,430,508:-0.00,0.00,0.03,41.19,47.32:-0.00,0.00,0.03,41.19,43.86:0.00,0.00,0.00,0.00,3.45:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.59:6,58,19,60,60:117.0,53.2,72.0,34.9,46.8:0,1,0,0,1:0,0,0,0,0:43,102,118,50,65:94,20,19,97,86:0,33,0,29,17:NM_001037675.2(NBPF9) c.1854-207_1854-206delTG,NM_001037675.2(NBPF9) c.1854-207_1854-206dupTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 144823632 . T G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=86;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-1073T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1852-181T>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1852-181T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1852-181T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:86:84:0:0:16,70:428,2308:32.56,0.00:32.74,0.00:-0.18,0.00:1.00,0.00:1.00,0.00:0.45,0.00:40,60:71.9,35.3:0,0:0,0:12,43:139,108:7,34:NM_001037675.2(NBPF9) c.1854-181T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144823744 . A T 69 nt VT=SNV;PN=G;NN=A;SST=Single;DP=288;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-961A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1852-69A>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.1852-69A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1852-69A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:288:265:0:0:256,32:8084,969:0.00,68.81:0.00,53.65:0.00,15.16:0.00,1.00:0.00,1.00:0.00,1.00:52,40:24.8,53.4:0,0:0,0:54,66:96,85:33,28:-,NM_001037675.2(NBPF9) c.1854-69A>T:-,NOT_FOUND:-,NOT_FOUND 1 144823868 rs61807127 T G 227 nt VT=SNV;PN=G;NN=A;SST=Single;DP=271;DB;DBA=NA;PAF=NA;NP=243;PC=0.131;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-837T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.1907T>G;ProtCh=p.V636G;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.1907T>G;ProtCh=p.V636G;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.1907T>G;ProtCh=p.V636G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:271:131:0:0:2,1,82,186:21,10,2597,5762:-0.39,-0.28,227.18,0.00:-0.16,-0.15,8.91,0.00:-0.24,-0.13,218.27,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:17,15,40,52:87.5,128.0,47.7,6.9:0,0,0,0:0,0,0,0:84,100,106,79:63,50,44,70:54,0,35,39:NM_001037675.2(NBPF9) c.1909T>G (p.Tyr637Asp),-:NOT_FOUND,-:NOT_FOUND,- 1 144824146 rs320835 A C 140 nt VT=SNV;PN=G;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-559A>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2024+161A>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2024+161A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2024+161A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:3:0:0:38:1222:140.31:12.13:128.18:1.00:1.00:1.00:40:37.1:0:0:107:43:23:NM_001037675.2(NBPF9) c.2026+161A>C,NM_001037675.2(NBPF9) c.2026+161A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 144824551 rs694264 A T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7316,A/0.2684;NP=122;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-154A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2025-154A>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2025-154A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2025-154A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,T:19:17:0:0:15,4:468,128:0.00,10.47:0.00,10.72:0.00,-0.26:0.00,0.72:0.00,0.96:0.00,0.55:55,40:11.3,41.2:0,0:0,0:42,97:108,54:32,22:-,NM_001037675.2(NBPF9) c.2027-154A>T:-,NOT_FOUND:-,NOT_FOUND 1 144824666 rs603230 A C 61 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.503,A/0.497;Gene=NBPF20/NM_001278267.1/1;CC=c.5306-39A>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2025-39A>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2025-39A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2025-39A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:61:53:0:0:40,21:1213,681:0.00,61.09:0.00,57.73:0.00,3.36:0.00,1.00:0.00,1.00:0.00,1.00:55,40:16.9,38.5:0,0:0,0:59,24:91,107:33,23:-,NM_001037675.2(NBPF9) c.2027-39A>C:-,0.38:-,NOT_FOUND 1 144825010 rs369467765 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=63;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+254A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2076+254A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2076+254A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2076+254A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:A,G:15:11:0:0:9,6:291,182:0.00,16.66:0.00,10.14:0.00,6.51:0.00,0.96:0.00,0.99:0.00,0.87:40,40:9.9,35.3:0,0:0,0:61,41:90,109:50,23:-,NM_001037675.2(NBPF9) c.2078+254A>G:-,NOT_FOUND:-,NOT_FOUND 1 144825038 rs61807132 A G 21 end;mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+282A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2076+282A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2076+282A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2076+282A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:18:0:0:14,8:475,232:0.00,20.75:0.00,21.54:0.00,-0.78:0.00,0.99:0.00,1.00:0.00,0.84:40,17:25.8,54.8:0,0:0,0:69,9:81,134:29,3:-,NM_001037675.2(NBPF9) c.2078+282A>G:-,NOT_FOUND:-,NOT_FOUND 1 144825238 rs587673986 T C 90 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+482T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2077-115T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2077-115T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2077-115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:137:124:0:0:34,103:1074,3283:90.29,0.00:92.03,0.00:-1.73,0.00:1.00,0.00:1.00,0.00:0.97,0.00:40,60:54.4,16.7:0,0:0,0:14,30:135,118:10,24:NM_001037675.2(NBPF9) c.2079-115T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144825577 rs633899 G A 423 nt VT=SNV;PN=G;NN=G;SST=Single;DP=290;DB;DBA=NA;PAF=NA;NP=1804;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+821G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2249+52G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2249+52G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2249+52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:290:103:0:0:131,1,158:4468,5,5009:422.90,-0.20,0.00:79.40,-0.05,0.00:343.51,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,51,56:45.5,24.0,8.8:0,0,0:0,0,0:93,56,92:57,94,58:38,0,35:NM_001037675.2(NBPF9) c.2251+52G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144825681 rs662222 T C 173 nt VT=SNV;PN=G;NN=T;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=366;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+925T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2249+156T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2249+156T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2249+156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:136:12:0:0:1,56,79:11,1857,2492:-0.15,172.61,0.00:-0.01,17.85,0.00:-0.14,154.77,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:55,51,50:46.0,74.2,10.8:0,0,0:0,0,0:71,105,99:80,43,48:0,33,37:NM_001037675.2(NBPF9) c.2251+156T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144825721 rs375120655 T C 59 nt VT=SNV;PN=C;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=84;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+965T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2249+196T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2249+196T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2249+196T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:96:7:0:0:22,74:710,2165:59.11,0.00:-0.73,0.00:59.84,0.00:1.00,0.00:0.81,0.00:1.00,0.00:43,55:69.2,29.4:0,0:0,0:120,83:30,68:16,31:NM_001037675.2(NBPF9) c.2251+196T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144825790 rs200950584 T C 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1034T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2249+265T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2249+265T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2249+265T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,G,T:47:6:0:0:6,1,40:189,12,1232:14.04,-0.09,0.00:2.95,0.25,0.00:11.09,-0.33,0.00:0.86,0.00,0.00:0.54,0.00,0.00:0.98,0.00,0.00:40,13,40:67.5,122.0,34.6:0,0,0:0,0,0:129,141,99:21,10,48:10,0,24:NM_001037675.2(NBPF9) c.2251+265T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144825806 rs369634487 G C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1050G>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2249+281G>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2249+281G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2249+281G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:1:0:0:10,27:325,856:27.90,0.00:-0.14,0.00:28.04,0.00:1.00,0.00:0.51,0.00:1.00,0.00:40,40:88.1,13.9:0,0:0,0:110,115:41,36:11,18:NM_001037675.2(NBPF9) c.2251+281G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144825842 . T C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1086T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2249+317T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2249+317T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2249+317T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:C,T:22:4:0:0:6,16:207,514:17.96,0.00:-0.55,0.00:18.52,0.00:0.93,0.00:0.72,0.00:0.99,0.00:25,40:86.8,11.2:0,0:0,0:125,108:25,41:21,35:NM_001037675.2(NBPF9) c.2251+317T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144825951 rs113708967 T G 9 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1195T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2250-284T>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2250-284T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2250-284T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:G,T:23:12:0:0:4,19:116,568:8.91,0.00:-1.00,0.00:9.91,0.00:0.69,0.00:0.84,0.00:0.82,0.00:14,40:61.5,28.9:0,0:0,0:87,60:64,91:19,33:NM_001037675.2(NBPF9) c.2252-284T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144826006 rs61807134 A G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=25;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1250A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2250-229A>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2250-229A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2250-229A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:34:22:0:0:19,14,1:587,462,10:0.00,43.12,0.00:0.00,38.71,-0.12:0.00,4.41,0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,22,40:30.3,66.8,206.0:0,0,0:0,0,0:63,41,129:87,109,22:43,8,0:-,NM_001037675.2(NBPF9) c.2252-229A>G:-,NOT_FOUND:-,NOT_FOUND 1 144826027 . A T 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;NP=1;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1271A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2250-208A>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2250-208A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2250-208A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,T:37:27:0:0:34,3:1011,98:0.00,6.72:0.00,7.10:0.00,-0.38:0.00,0.38:0.00,0.79:0.00,0.53:40,22:44.7,76.3:0,0:0,0:66,59:83,91:35,13:-,NM_001037675.2(NBPF9) c.2252-208A>T:-,NOT_FOUND:-,NOT_FOUND 1 144826097 rs674298 C T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=1042;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1341C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2250-138C>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2250-138C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2250-138C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:57:50:0:0:44,1,12:1383,8,374:0.00,-0.24,30.51:0.00,-0.20,23.12:0.00,-0.05,7.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.86:50,14,40:20.9,87.0,78.8:0,0,0:0,0,0:60,142,62:91,7,88:36,0,31:-,NM_001037675.2(NBPF9) c.2252-138C>T:-,NOT_FOUND:-,NOT_FOUND 1 144826113 rs201480379 G C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=9;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1357G>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2250-122G>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2250-122G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2250-122G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:51:0:0:13,44:379,1442:30.83,0.00:28.63,0.00:2.20,0.00:1.00,0.00:1.00,0.00:0.86,0.00:22,50:58.4,21.1:0,0:0,0:130,56:21,94:18,23:NM_001037675.2(NBPF9) c.2252-122G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144826128 rs636180 T G 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=1124;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1372T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2250-107T>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2250-107T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2250-107T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:60:55:0:0:11,49:364,1600:29.24,0.00:20.05,0.00:9.19,0.00:1.00,0.00:1.00,0.00:0.86,0.00:40,50:78.2,10.5:0,0:0,0:79,62:72,89:18,40:NM_001037675.2(NBPF9) c.2252-107T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144826271 rs202098711 G A 23 sb;mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=NA;NP=23;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1515G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2286G>A;ProtCh=p.R762=;VC=Silent;Gene=NBPF9/NM_001037675.3/0;CC=c.2286G>A;ProtCh=p.R762=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2286G>A;ProtCh=p.R762=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G,T:107:77:0:0:10,96,1:321,3216,32:22.50,0.00,1.26:24.39,0.00,1.44:-1.89,0.00,-0.17:0.98,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:13,50,40:53.5,13.0,84.0:0,0,0:0,0,0:120,77,136:30,67,14:21,36,0:NM_001037675.2(NBPF9) c.2288G>A (p.Gly763Asp),-:NOT_FOUND,-:NOT_FOUND,- 1 144826308 rs61807137 T G 50 sb;mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1552T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2301+22T>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2301+22T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2301+22T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:80:51:0:0:18,62:604,2013:50.48,0.00:50.54,0.00:-0.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:14,50:45.8,8.5:0,0:0,0:56,100:94,48:6,25:NM_001037675.2(NBPF9) c.2303+22T>G,-:0.15,-:NOT_FOUND,- 1 144826673 . G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;NP=1;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+1917G>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2302-260G>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2302-260G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2302-260G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:11:9:0:0:3,8:102,242:8.83,0.00:5.75,0.00:3.09,0.00:0.60,0.00:0.91,0.00:0.72,0.00:40,27:59.3,30.0:2,1:0,0:39,65:80,85:19,20:NM_001037675.2(NBPF9) c.2304-260G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144826837 rs199688683 T C 7 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+2081T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2302-96T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2302-96T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2302-96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,T:10:4:0:0:3,7:81,197:6.88,0.00:-0.61,0.00:7.50,0.00:0.62,0.00:0.76,0.00:0.86,0.00:12,25:81.3,35.9:0,0:0,0:30,147:120,3:27,3:NM_001037675.2(NBPF9) c.2304-96T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144826889 . C G 17 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+2133C>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2302-44C>G;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2302-44C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2302-44C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:C,G:14:0:0:0:8,6:275,179:0.00,16.59:0.00,0.00:0.00,16.59:0.00,0.96:0.00,0.00:0.00,0.96:27,19:0.0,82.5:0,0:0,0:45,24:105,126:16,13:-,NM_001037675.2(NBPF9) c.2304-44C>G:-,NOT_FOUND:-,NOT_FOUND 1 144826949 . C G 18 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;PC=0.088;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+2193C>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2318C>G;ProtCh=p.A773G;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.2318C>G;ProtCh=p.A773G;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2318C>G;ProtCh=p.A773G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,G:23:0:0:0:16,7:547,211:0.00,18.29:0.00,0.00:0.00,18.29:0.00,0.97:0.00,0.00:0.00,0.97:27,19:15.6,67.1:0,0:0,0:76,73:74,78:34,20:-,NM_001037675.2(NBPF9) c.2320C>G (p.Leu774Val):-,NOT_FOUND:-,NOT_FOUND 1 144828267 rs604122 G T 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=578;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3511G>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2584-274G>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2584-274G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+339G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:G,T:12:8:0:0:2,10:70,317:0.00,34.12:0.00,29.58:0.00,4.53:0.00,1.00:0.00,1.00:0.00,1.00:15,53:14.5,41.1:0,0:0,0:89,57:60,86:8,21:-,NM_001037675.2(NBPF9) c.2586-274G>T:-,NOT_FOUND:-,NOT_FOUND 1 144828377 rs75713275 T C 15 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=1176;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3621T>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2584-164T>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2584-164T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+449T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:33:32:0:0:6,27:191,902:15.17,0.00:15.30,0.00:-0.13,0.00:0.89,0.00:0.99,0.00:0.44,0.00:52,56:170.5,60.7:0,0:0,0:9,31:138,120:1,26:NM_001037675.2(NBPF9) c.2586-164T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144828404 rs597581 T A 114 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=3291;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3648T>A;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2584-137T>A;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2584-137T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+476T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:46:45:0:3:35,11:1080,296:113.68,0.00:105.83,0.00:7.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,52:64.6,161.8:0,0:0,0:37,35:113,116:21,18:NM_001037675.2(NBPF9) c.2586-137T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 144828418 rs79756393 C T 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2528;PC=0.032;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3662C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2584-123C>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2584-123C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+490C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:53:0:0:46,10:1335,309:0.00,24.28:0.00,24.71:0.00,-0.43:0.00,0.99:0.00,1.00:0.00,0.71:57,52:61.0,167.9:0,0:0,0:42,48:108,102:25,14:-,NM_001037675.2(NBPF9) c.2586-123C>T:-,NOT_FOUND:-,NOT_FOUND 1 144828454 rs9424774 G C 137 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=3379;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3698G>C;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2584-87G>C;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2584-87G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+526G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:70:64:0:0:46,24:1350,782:137.21,0.00:117.73,0.00:19.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:86.6,24.2:0,0:0,0:54,41:94,94:26,27:NM_001037675.2(NBPF9) c.2586-87G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144828497 rs77522596 C T 19 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=442;PC=0.232;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3741C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2584-44C>T;VC=Intron;Gene=NBPF9/NM_001037675.3/0;CC=c.2584-44C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+569C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:110:95:0:0:100,10:3192,282:0.00,18.52:0.00,19.84:0.00,-1.33:0.00,0.98:0.00,1.00:0.00,0.96:60,52:25.1,160.5:0,0:0,0:40,122:107,29:27,10:-,NM_001037675.2(NBPF9) c.2586-44C>T:-,NOT_FOUND:-,NOT_FOUND 1 144828610 rs12026633 T G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=2822;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3854T>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2653T>G;ProtCh=p.Y885D;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.2653T>G;ProtCh=p.Y885D;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+682T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:G,T:96:52:0:0:9,87:267,2874:18.14,0.00:5.77,0.00:12.37,0.00:0.96,0.00:0.97,0.00:0.99,0.00:39,60:114.3,6.7:0,0:0,0:53,115:98,33:28,20:NM_001037675.2(NBPF9) c.2655T>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 144828748 rs144947204 C T 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=1;NP=222;PC=0.025;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+3992C>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2791C>T;ProtCh=p.P931S;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.2791C>T;ProtCh=p.P931S;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+820C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:51:0:0:69,13:2283,431:0.00,33.74:0.00,21.41:0.00,12.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.6,157.8:0,0:0,0:69,39:77,111:28,16:-,NM_001037675.2(NBPF9) c.2793C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 144828764 rs114576842 G T 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=847;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+4008G>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2807G>T;ProtCh=p.G936V;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.2807G>T;ProtCh=p.G936V;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+836G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:84:50:0:0:68,16:2279,495:0.00,39.40:0.00,17.02:0.00,22.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.5,134.4:0,0:0,0:66,41:84,96:27,17:-,NM_001037675.2(NBPF9) c.2809G>T (p.Glu937*):-,NOT_FOUND:-,NOT_FOUND 1 144828765 rs1043478 A T 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+4009A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2808A>T;ProtCh=p.G936=;VC=Silent;Gene=NBPF9/NM_001037675.3/0;CC=c.2808A>T;ProtCh=p.G936=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+837A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:85:51:0:0:63,6,16:2051,202,481:0.00,14.16,38.46:0.00,-0.86,19.00:0.00,15.03,19.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:18.7,72.8,142.9:0,0,0:0,0,0:73,70,48:70,80,94:31,20,17:-,NM_001037675.2(NBPF9) c.2810A>T (p.Glu937Val):-,NOT_FOUND:-,NOT_FOUND 1 144828784 rs78667364 A G 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=3314;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+4028A>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.2827A>G;ProtCh=p.S943G;VC=Missense;Gene=NBPF9/NM_001037675.3/0;CC=c.2827A>G;ProtCh=p.S943G;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+856A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:87:48:0:0:68,19:2358,623:0.00,51.54:0.00,20.97:0.00,30.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.8,133.6:0,0:0,0:79,59:69,77:27,20:-,NM_001037675.2(NBPF9) c.2829A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 144828845 rs61807990 A T 78 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=2273;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+4089A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.*61A>T;VC=3UTR;Gene=NBPF9/NM_001037675.3/0;CC=c.*61A>T;VC=3UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+917A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:66:26:0:0:40,26:1261,846:0.00,77.80:0.00,21.87:0.00,55.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:62.8,59.3:0,0:0,0:108,107:31,37:28,31:-,chr1 g.144828844A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144828854 rs200694822 A T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=361;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+4098A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.*70A>T;VC=3UTR;Gene=NBPF9/NM_001037675.3/0;CC=c.*70A>T;VC=3UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+926A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G,T:59:21:0:0:52,1,6:1685,12,188:0.00,-0.15,13.29:0.00,0.17,2.37:0.00,-0.31,10.92:0.00,0.00,0.83:0.00,0.00,0.80:0.00,0.00,0.99:60,51,51:65.1,34.0,88.2:0,0,0:0,0,0:119,139,85:24,12,60:21,0,16:-,chr1 g.144828853A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144828857 rs201893749 C G 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2313;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+4101C>G;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.*73C>G;VC=3UTR;Gene=NBPF9/NM_001037675.3/0;CC=c.*73C>G;VC=3UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+929C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:56:18:0:0:34,22:1117,758:0.00,70.01:0.00,13.08:0.00,56.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.1,66.1:0,0:0,0:106,124:42,25:28,15:-,chr1 g.144828856C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144828910 rs12124435 A T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=3090;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+4154A>T;VC=Intron;Gene=NBPF8/NM_001037501.2/1;CC=c.*126A>T;VC=3UTR;Gene=NBPF9/NM_001037675.3/0;CC=c.*126A>T;VC=3UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+982A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:1:0:0:16,8:518,257:0.00,22.88:0.00,1.70:0.00,21.18:0.00,0.99:0.00,0.56:0.00,0.99:57,51:55.9,62.9:0,0:0,0:122,127:27,22:18,13:-,chr1 g.144828909A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 144852080 rs1619391 T C 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27324T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24152T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*274A>G;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*378A>G;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*378A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:C,T:7:7:0:0:4,3:116,71:11.43,0.00:11.43,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:55,60:116.0,56.0:0,0:0,0:66,87:84,62:11,45:NM_001198834.2(PDE4DIP) c.*274A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144852167 rs113514538 G T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=66;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27411G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24239G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*187C>A;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*291C>A;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*291C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:G,T:14:14:0:0:8,6:214,163:0.00,15.00:0.00,15.00:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,51:28.1,135.2:0,0:0,0:29,70:122,79:16,28:-,NM_001198834.2(PDE4DIP) c.*187C>A:-,NOT_FOUND:-,NOT_FOUND 1 144852203 rs74872612 T G 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27447T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24275T>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*151A>C;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*255A>C;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*255A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:25:0:0:11,14:354,407:33.22,0.00:33.22,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,60:176.0,24.7:0,0:0,0:31,63:118,87:19,33:NM_001198834.2(PDE4DIP) c.*151A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144852235 rs75842891 T C 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27479T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24307T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*119A>G;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*223A>G;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*223A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:31:0:0:15,16:500,451:47.88,0.00:48.03,0.00:-0.14,0.00:1.00,0.00:1.00,0.00:0.66,0.00:40,60:169.5,20.7:0,0:0,0:46,61:104,90:17,34:NM_001198834.2(PDE4DIP) c.*119A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144852236 rs78034674 C G 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27480C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24308C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*118G>C;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*222G>C;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*222G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:31:31:0:0:16,15:483,420:0.00,39.77:0.00,39.91:0.00,-0.14:0.00,1.00:0.00,1.00:0.00,0.66:60,40:20.7,169.5:0,0:0,0:64,47:86,103:33,17:-,NM_001198834.2(PDE4DIP) c.*118G>C:-,NOT_FOUND:-,NOT_FOUND 1 144852249 rs1055317 C T 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27493C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24321C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*105G>A;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*209G>A;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*209G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:45:0:0:23,22:714,729:0.00,69.85:0.00,68.25:0.00,1.59:0.00,1.00:0.00,1.00:0.00,0.88:60,50:14.5,153.0:0,0:0,0:49,43:102,107:40,30:-,NM_001198834.2(PDE4DIP) c.*105G>A:-,NOT_FOUND:-,NOT_FOUND 1 144852254 rs77608804 G C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27498G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24326G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*100C>G;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*204C>G;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*204C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:52:52:0:0:15,37:505,1224:44.09,0.00:42.59,0.00:1.50,0.00:1.00,0.00:1.00,0.00:0.75,0.00:50,60:154.5,44.5:0,0:0,0:24,36:127,113:19,32:NM_001198834.2(PDE4DIP) c.*100C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144852321 rs1055315 C A 141 nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27565C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24393C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.*33G>T;VC=3UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.*137G>T;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*137G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:93:87:0:0:45,48:1473,1490:140.79,0.00:111.59,0.00:29.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:94.2,5.0:0,0:0,0:56,50:87,96:26,26:NM_001198834.2(PDE4DIP) c.*33G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144852390 rs61804988 C T 186 lc VT=SNV;PN=C;NN=C;SST=Single;DP=138;DB;DBA=NA;PAF=NA;PC=0.968;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27634C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24462C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7053G>A;ProtCh=p.W2351*;VC=Nonsense;Gene=PDE4DIP/NM_014644.5/1;CC=c.*68G>A;VC=3UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.*68G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:138:109:0:0:78,60:2367,1985:0.00,186.09:0.00,103.21:0.00,82.87:0.00,1.00:0.00,1.00:0.00,1.00:60,54:10.9,70.1:0,0:0,0:50,71:100,71:31,36:-,NM_001198834.2(PDE4DIP) c.7053G>A (p.Trp2351*):-,NOT_FOUND:-,NOT_FOUND 1 144852476 rs1616066 T C 175 lc VT=SNV;PN=A;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;NP=3472;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27720T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24548T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-33A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7023A>G;ProtCh=p.P2341=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6705A>G;ProtCh=p.P2235=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:139:79:0:0:63,76:1870,2416:175.16,0.00:59.99,0.00:115.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.5,9.5:0,0:0,0:88,93:60,54:33,23:NM_001198834.2(PDE4DIP) c.7000-33A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144852500 . C . . NT END=144853218;NT GT ./. 1 144852545 rs1699760 C T 94 nt VT=SNV;PN=G;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27789C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24617C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-102G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-46G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-46G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:86:37:0:0:52,1,33:1625,9,1030:0.00,-0.18,94.09:0.00,0.01,28.20:0.00,-0.19,65.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.4,51.0,56.5:0,0,0:0,0,0:86,64,90:58,87,61:41,0,33:-,NM_001198834.2(PDE4DIP) c.7000-102G>A:-,NOT_FOUND:-,NOT_FOUND 1 144852566 rs111998687 G A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=50;PC=0.036;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27810G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24638G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-123C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-67C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:71:28:0:0:7,64:188,2146:12.33,0.00:0.48,0.00:11.84,0.00:0.88,0.00:0.86,0.00:0.99,0.00:60,60:157.4,27.5:0,0:0,0:76,92:74,55:26,31:NM_001198834.2(PDE4DIP) c.7000-123C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144852606 rs75809560 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=387;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27850G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24678G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-163C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-107C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-107C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,C,G:59:11:0:0:5,1,53:162,6,1545:11.20,-0.34,0.00:-0.33,-0.06,0.00:11.53,-0.28,0.00:0.70,0.00,0.00:0.55,0.00,0.00:0.96,0.00,0.00:60,58,60:138.4,60.0,26.8:0,0,0:0,0,0:105,14,101:46,137,50:15,0,31:NM_001198834.2(PDE4DIP) c.7000-163C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144852632 . TAA T 8 nt VT=DEL;SST=Single;DP=45;NP=238;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27877_5357+27878delAA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24705_2583+24706delAA;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-191_7000-190delTT;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-135_7000-134delTT;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-135_6682-134delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,G,TAA,T:45:6:0:4:1,1,39,4:10,12,1175,116:-0.18,-0.08,0.00,7.74:-0.04,-0.04,0.00,-0.16:-0.14,-0.04,0.00,7.90:0.00,0.00,0.00,0.57:0.00,0.00,0.00,0.41:0.00,0.00,0.00,0.93:17,60,60,60:114.0,54.0,21.7,131.2:0,0,0,0:0,0,0,0:44,112,109,123:106,39,40,27:0,0,28,13:-,NM_001198834.2(PDE4DIP) c.7000-191_7000-190delTT:-,NOT_FOUND:-,NOT_FOUND 1 144852642 rs78482352 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=434;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27886C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24714C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-199G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-143G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C,T:42:3:0:0:1,38,3:29,1038,101:1.37,0.00,6.89:-0.02,0.00,-0.06:1.39,0.00,6.95:0.00,0.00,0.36:0.00,0.00,0.26:0.00,0.00,0.86:60,60,60:29.0,25.1,129.0:0,0,0:0,0,0:150,99,124:1,52,27:0,35,15:-,NM_001198834.2(PDE4DIP) c.7000-199G>A:-,NOT_FOUND:-,NOT_FOUND 1 144852646 rs4649487 G A 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=552;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+27890G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24718G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-203C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-147C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-147C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:A,G,T:41:1:0:0:4,36,1:120,1109,10:8.27,0.00,-0.17:-0.04,0.00,-0.01:8.31,0.00,-0.16:0.58,0.00,0.00:0.40,0.00,0.00:0.94,0.00,0.00:60,60,60:55.2,27.2,142.0:0,0,0:0,0,0:120,103,112:31,47,25:20,37,0:NM_001198834.2(PDE4DIP) c.7000-203C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144852910 rs1626433 C T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28154C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+24982C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-467G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-411G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-411G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:7:4:0:0:2,5:71,145:0.00,15.04:0.00,6.07:0.00,8.97:0.00,0.98:0.00,0.99:0.00,0.98:60,60:0.0,56.4:0,0:0,0:61,60:88,90:35,34:-,NM_001198834.2(PDE4DIP) c.7000-467G>A:-,NOT_FOUND:-,NOT_FOUND 1 144852992 rs1625616 C T 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28236C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25064C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-549G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-493G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-493G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:15:13:0:0:8,7:266,184:0.00,17.20:0.00,12.32:0.00,4.88:0.00,0.99:0.00,1.00:0.00,0.76:60,60:82.2,40.6:0,0:0,0:41,62:110,87:27,34:-,NM_001198834.2(PDE4DIP) c.7000-549G>A:-,NOT_FOUND:-,NOT_FOUND 1 144853029 rs5013780 C G 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28273C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25101C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-586G>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-530G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-530G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:18:0:0:12,7:378,230:0.00,20.91:0.00,21.11:0.00,-0.20:0.00,0.98:0.00,1.00:0.00,0.58:60,60:19.0,142.4:0,0:0,0:81,43:70,107:34,13:-,NM_001198834.2(PDE4DIP) c.7000-586G>C:-,NOT_FOUND:-,NOT_FOUND 1 144853069 rs5013781 G A 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=183;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28313G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25141G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-626C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-570C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-570C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:9,15:296,506:27.00,0.00:27.10,0.00:-0.10,0.00:1.00,0.00:1.00,0.00:0.58,0.00:60,60:181.7,14.5:0,0:0,0:71,53:80,97:25,44:NM_001198834.2(PDE4DIP) c.7000-626C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144853079 rs5013782 A T 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=47;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28323A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25151A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-636T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-580T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-580T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:24:0:0:15,9:474,314:0.00,28.80:0.00,28.91:0.00,-0.10:0.00,1.00:0.00,1.00:0.00,0.58:60,60:13.7,181.7:0,0:0,0:57,81:92,70:39,25:-,NM_001198834.2(PDE4DIP) c.7000-636T>A:-,NOT_FOUND:-,NOT_FOUND 1 144853100 rs5013783 G A 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28344G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25172G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-657C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-601C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-601C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:32:32:0:0:11,20,1:366,607,9:33.09,0.00,-0.07:33.27,0.00,-0.05:-0.18,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:0.64,0.00,0.00:60,60,52:198.7,11.2,77.0:0,0,0:0,0,0:66,37,57:84,114,94:43,33,0:NM_001198834.2(PDE4DIP) c.7000-657C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144853108 rs77137400 T C 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28352T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25180T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-665A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-609A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-609A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:34:0:0:11,23:351,739:31.05,0.00:31.31,0.00:-0.25,0.00:1.00,0.00:1.00,0.00:0.72,0.00:60,60:198.7,14.0:0,0:0,0:74,29:76,121:43,20:NM_001198834.2(PDE4DIP) c.7000-665A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144853167 rs79304238 C A 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=7;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28411C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25239C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-724G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-668G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-668G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:55:0:0:11,50:356,1641:28.36,0.00:23.48,0.00:4.88,0.00:1.00,0.00:1.00,0.00:0.96,0.00:51,60:217.7,16.6:0,0:0,0:73,46:78,103:47,22:NM_001198834.2(PDE4DIP) c.7000-724G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144853174 rs80042517 T C 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=4;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28418T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25246T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-731A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-675A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-675A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:68:59:0:0:12,1,55:390,17,1655:31.07,0.14,0.00:23.12,0.24,0.00:7.95,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:51,21,60:212.1,232.0,16.1:0,0,0:0,0,0:63,11,40:88,139,109:44,0,24:NM_001198834.2(PDE4DIP) c.7000-731A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144853193 rs77319384 T A 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;PC=0.452;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28437T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25265T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-750A>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-694A>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-694A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:87:76:0:0:14,1,72:459,10,2254:36.01,-0.24,0.00:24.31,-0.15,0.00:11.70,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:51,60,60:205.8,41.0,19.3:0,0,0:0,0,0:41,7,40:108,143,105:28,0,25:NM_001198834.2(PDE4DIP) c.7000-750A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144853212 rs587670463 G C 39 nt VT=SNV;PN=T;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=NA;PC=0.839;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28456G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25284G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-769C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-713C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-713C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:100:87:0:0:16,84:504,2743:38.95,0.00:27.05,0.00:11.91,0.00:1.00,0.00:1.00,0.00:0.99,0.00:62,60:182.0,20.9:0,0:0,0:46,53:104,90:25,29:NM_001198834.2(PDE4DIP) c.7000-769C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144853214 rs1698587 A G 145 nt VT=SNV;PN=G;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;PC=0.903;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28458A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25286A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-771T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-715T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-715T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:102:89:0:0:53,49:1611,1518:0.00,144.50:0.00,107.93:0.00,36.57:0.00,1.00:0.00,1.00:0.00,1.00:60,62:10.7,84.4:0,0:0,0:45,54:93,97:31,28:-,NM_001198834.2(PDE4DIP) c.7000-771T>C:-,NOT_FOUND:-,NOT_FOUND 1 144853248 rs77368953 G C 49 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=11;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28492G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25320G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.7000-805C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-749C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-749C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:121:97:0:0:1,21,98,1:10,627,3263,11:-0.26,48.71,0.00,-0.24:-0.23,31.82,0.00,-0.13:-0.03,16.89,0.00,-0.11:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,62,60,51:119.0,137.0,17.5,65.0:0,0,0,0:0,0,0,0:18,53,68,103:130,95,81,45:0,24,31,0:NM_001198834.2(PDE4DIP) c.7000-805C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144853311 rs77556469 C T 90 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=63;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28555C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25383C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+854G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.7000-812G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6682-812G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:154:120:0:0:117,37:3849,1094:0.00,90.20:0.00,52.56:0.00,37.64:0.00,1.00:0.00,1.00:0.00,1.00:60,62:13.2,105.2:0,0:0,0:64,56:80,94:34,35:-,NM_001198834.2(PDE4DIP) c.6999+854G>A:-,NOT_FOUND:-,NOT_FOUND 1 144853333 rs202031643 T TAA 76 idl VT=INS;SST=Single;DP=169;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28584_5357+28585dupAA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25412_2583+25413dupAA;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+830_6999+831dupTT;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+830_6999+831dupTT;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+830_6681+831dupTT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAA,D:164:135:35:2:132,30,2:4085,1111,66:0.00,76.22,3.03:0.00,40.06,0.47:0.00,36.17,2.57:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,62,60:14.2,109.6,0.0:0,5,0:0,0,0:63,68,75:86,76,76:40,29,55:-,NM_001198834.2(PDE4DIP) c.6999+831_6999+832insTT:-,NOT_FOUND:-,NOT_FOUND 1 144853371 rs78015038 C T 80 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=186;DB;DBA=NA;PAF=NA;NP=22;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28615C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25443C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+794G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+794G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+794G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:186:136:0:0:1,154,31:9,5113,1013:-0.29,0.00,79.80:-0.21,0.00,40.02:-0.09,0.00,39.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:40.0,8.4,96.5:0,0,0:0,0,0:28,59,95:123,88,47:0,33,19:-,NM_001198834.2(PDE4DIP) c.6999+794G>A:-,NOT_FOUND:-,NOT_FOUND 1 144853406 rs74587777 A T 62 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=194;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28650A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25478A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+759T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+759T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+759T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:194:140:0:0:168,26:5451,825:0.00,61.73:0.00,32.95:0.00,28.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,107.3:0,0:0,0:72,112:74,34:35,21:-,NM_001198834.2(PDE4DIP) c.6999+759T>A:-,NOT_FOUND:-,NOT_FOUND 1 144853456 . T A 40 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=207;NP=31;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28700T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25528T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+709A>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+709A>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+709A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,T:207:139:0:0:19,188:588,6050:40.43,0.00:17.88,0.00:22.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:95.6,8.8:0,0:0,0:47,69:103,77:20,41:NM_001198834.2(PDE4DIP) c.6999+709A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144853462 . T C 38 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=212;NP=30;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28706T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25534T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+703A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+703A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+703A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:C,T:212:141:0:0:18,194:559,6369:37.77,0.00:16.77,0.00:21.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:97.0,8.3:0,0:0,0:47,64:97,82:22,39:NM_001198834.2(PDE4DIP) c.6999+703A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144853488 rs375110336 T TA 40 PASS VT=INS;SST=Single;DP=204;DB;DBA=NA;PAF=NA;NP=19;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28734dupA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25562dupA;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+676dupT;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+676dupT;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+676dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:T,TA:204:125:21:0:183,21:5848,595:0.00,40.26:0.00,10.50:0.00,29.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,70.2:1,0:0,0:70,38:75,102:35,23:-,NM_001198834.2(PDE4DIP) c.6999+676_6999+677insT:-,NOT_FOUND:-,NOT_FOUND 1 144853556 . TAAGTAA T 47 PASS VT=DEL;SST=Single;DP=194;NP=1;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28802_5357+28807delAGTAAA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25630_2583+25635delAGTAAA;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+603_6999+608delTTACTT;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+603_6999+608delTTACTT;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+603_6681+608delTTACTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAGTAA,T:194:113:0:21:173,21:5545,660:0.00,47.20:0.00,12.43:0.00,34.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.1,65.7:0,0:0,0:92,84:55,33:35,18:-,NM_001198834.2(PDE4DIP) c.6999+603_6999+608delTTACTT:-,NOT_FOUND:-,NOT_FOUND 1 144853567 . A C 49 idl VT=SNV;PN=T;NN=G;SST=Single;DP=188;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28811A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25639A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+598T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+598T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+598T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:188:105:0:0:167,21:5537,672:0.00,48.66:0.00,14.44:0.00,34.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.6,65.7:0,21:0,0:80,89:71,28:40,18:-,NM_001198834.2(PDE4DIP) c.6999+598T>G:-,NOT_FOUND:-,NOT_FOUND 1 144853587 . A G 44 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=183;NP=2;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28831A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25659A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+578T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+578T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+578T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:183:99:0:0:165,18:5247,612:0.00,44.26:0.00,9.83:0.00,34.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.8,76.9:0,0:0,0:75,109:73,8:44,20:-,NM_001198834.2(PDE4DIP) c.6999+578T>C:-,NOT_FOUND:-,NOT_FOUND 1 144853633 rs1619836 C T 257 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28877C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25705C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+532G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+532G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+532G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:159:90:0:0:1,76,82:11,2358,2653:-0.12,0.00,256.87:-0.09,0.00,107.79:-0.02,0.00,149.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:55.0,23.9,65.5:0,0,0:0,0,0:95,74,73:56,72,74:0,33,38:-,NM_001198834.2(PDE4DIP) c.6999+532G>A:-,NOT_FOUND:-,NOT_FOUND 1 144853688 rs4263947 T C 113 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=154;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28932T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25760T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+477A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+477A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+477A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:154:98:0:0:39,115:1318,3726:112.57,0.00:44.07,0.00:68.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:110.1,25.1:0,0:0,0:66,77:84,74:33,37:NM_001198834.2(PDE4DIP) c.6999+477A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144853702 rs1698586 T C 250 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+28946T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+25774T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+463A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+463A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+463A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:158:97:0:0:82,76:2589,2496:250.50,0.00:119.88,0.00:130.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.6,20.9:0,0:0,0:77,64:72,83:42,29:NM_001198834.2(PDE4DIP) c.6999+463A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144853976 rs1698585 C T 95 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=NA;NP=715;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29220C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26048C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+189G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+189G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+189G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:181:120:0:0:1,141,39:13,4306,1167:-0.24,0.00,94.60:-0.21,0.00,52.45:-0.03,0.00,42.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:50.0,25.3,125.5:0,0,0:0,0,0:53,57,88:98,88,58:0,25,34:-,NM_001198834.2(PDE4DIP) c.6999+189G>A:-,NOT_FOUND:-,NOT_FOUND 1 144853993 rs1699759 G A 203 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=186;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29237G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26065G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+172C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+172C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+172C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:186:131:0:0:73,113:2222,3706:202.81,0.00:114.81,0.00:87.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.5,31.2:0,0:0,0:50,67:98,79:34,25:NM_001198834.2(PDE4DIP) c.6999+172C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854047 rs587608050 C T 44 sb VT=SNV;PN=C;NN=C;SST=Single;DP=236;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29291C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26119C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+118G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+118G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+118G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C,T:236:163:0:0:2,215,19:30,6769,630:-0.19,0.00,43.52:0.08,0.00,42.79:-0.27,0.00,0.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:117.5,43.3,225.3:0,0,0:0,0,0:30,68,28:83,80,122:30,38,10:-,NM_001198834.2(PDE4DIP) c.6999+118G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854048 rs587663335 C G 41 sb VT=SNV;PN=C;NN=C;SST=Single;DP=238;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29292C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26120C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+117G>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+117G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+117G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,C,G:238:163:0:0:2,218,18:20,6862,598:-0.60,0.00,40.80:-0.30,0.00,39.08:-0.30,0.00,1.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:175.0,42.3,234.4:0,0,0:0,0,0:93,61,29:30,88,121:32,34,10:-,NM_001198834.2(PDE4DIP) c.6999+117G>C:-,NOT_FOUND:-,NOT_FOUND 1 144854052 rs1698584 G A 345 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=242;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29296G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26124G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+113C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+113C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+113C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:242:164:0:0:114,1,127:3628,14,4216:344.76,-0.11,0.00:189.61,-0.11,0.00:155.14,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:113.1,52.0,8.2:0,0,0:0,0,0:60,2,66:89,149,77:27,0,41:NM_001198834.2(PDE4DIP) c.6999+113C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854083 rs1699758 G A 286 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=248;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29327G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26155G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+82C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+82C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+82C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:248:160:0:0:95,153:3125,4838:286.12,0.00:126.77,0.00:159.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:81.9,38.5:0,0:0,0:77,66:72,81:30,31:NM_001198834.2(PDE4DIP) c.6999+82C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854087 rs4997150 A G 80 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=245;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29331A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26159A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+78T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+78T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+78T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:245:161:0:0:211,34:6608,1068:0.00,80.29:0.00,52.83:0.00,27.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.5,164.9:0,0:0,0:81,50:67,94:29,22:-,NM_001198834.2(PDE4DIP) c.6999+78T>C:-,NOT_FOUND:-,NOT_FOUND 1 144854095 rs4997149 G T 87 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=241;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29339G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26167G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6999+70C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6999+70C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6681+70C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:241:149:0:0:1,205,35:8,6826,1132:-0.33,0.00,86.67:-0.16,0.00,58.54:-0.18,0.00,28.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:213.0,36.0,159.1:0,0,0:0,0,0:116,81,56:35,67,88:0,27,20:-,NM_001198834.2(PDE4DIP) c.6999+70C>A:-,NOT_FOUND:-,NOT_FOUND 1 144854180 rs4997148 T C 141 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=207;DB;DBA=NA;PAF=NA;PC=0.995;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29424T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26252T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6984A>G;ProtCh=p.A2328=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.6984A>G;ProtCh=p.A2328=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6666A>G;ProtCh=p.A2222=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:207:98:0:0:1,53,153:8,1670,5073:-0.30,141.28,0.00:-0.08,44.49,0.00:-0.22,96.78,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,60,60:98.0,90.2,18.8:0,0,0:0,0,0:14,80,72:127,70,72:0,40,44:NM_001198834.2(PDE4DIP) c.6984A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 144854212 . C . . NT END=144854517;NT GT ./. 1 144854245 rs4997147 C T 113 nt VT=SNV;PN=A;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29489C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26317C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6953-34G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6953-34G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6635-34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:151:66:0:0:109,42:3504,1319:0.00,113.19:0.00,20.31:0.00,92.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,92.3:0,0:0,0:95,94:52,57:23,30:-,NM_001198834.2(PDE4DIP) c.6953-34G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854277 rs1699757 A G 268 nt VT=SNV;PN=C;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29521A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26349A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6953-66T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6953-66T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6635-66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:44:0:0:37,81:1224,2615:0.00,268.11:0.00,85.48:0.00,182.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.5,72.0:0,0:0,0:108,111:39,38:23,20:-,NM_001198834.2(PDE4DIP) c.6953-66T>C:-,NOT_FOUND:-,NOT_FOUND 1 144854351 rs599643 A C 257 nt VT=SNV;PN=C;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29595A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26423A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6953-140T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6953-140T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6635-140T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:40:0:0:74:2222:257.27:137.59:119.69:1.00:1.00:1.00:60:117.6:0:0:58:92:31:NM_001198834.2(PDE4DIP) c.6953-140T>G,NM_001198834.2(PDE4DIP) c.6953-140T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 144854376 rs2274128 C A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29620C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26448C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+142G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+142G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+142G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:80:52:0:0:13,67:419,2113:32.70,0.00:20.52,0.00:12.17,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:164.7,118.4:0,0:0,0:69,56:82,95:19,32:NM_001198834.2(PDE4DIP) c.6952+142G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854380 rs2798857 T C 134 nt VT=SNV;PN=G;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29624T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26452T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+138A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+138A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:54:0:0:42,38:1380,1102:133.96,0.00:80.34,0.00:53.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:152.3,94.4:0,0:0,0:62,68:89,80:30,34:NM_001198834.2(PDE4DIP) c.6952+138A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144854397 rs833193 T C 317 nt VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29641T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26469T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+121A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+121A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+121A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:88:62:0:0:88:2754:317.04:218.30:98.74:1.00:1.00:1.00:60:126.0:0:0:67:83:29:NM_001198834.2(PDE4DIP) c.6952+121A>G,NM_001198834.2(PDE4DIP) c.6952+121A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 144854412 rs77812232 A C 94 nt VT=SNV;PN=C;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29656A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26484A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+106T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+106T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+106T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:93:69:0:0:59,34:1784,1040:0.00,93.71:0.00,50.77:0.00,42.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:112.3,139.9:0,0:0,0:68,68:82,78:37,33:-,NM_001198834.2(PDE4DIP) c.6952+106T>G:-,NOT_FOUND:-,NOT_FOUND 1 144854452 rs3863690 T A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29696T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26524T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+66A>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+66A>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+66A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:105:83:0:0:17,88:566,2912:44.53,0.00:40.30,0.00:4.23,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:100.9,117.0:0,0:0,0:74,64:76,87:42,40:NM_001198834.2(PDE4DIP) c.6952+66A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854454 rs2274129 A C 217 nt VT=SNV;PN=G;NN=A;SST=Single;DP=111;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29698A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26526A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+64T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+64T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+64T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:111:84:0:0:45,66:1360,2184:0.00,217.36:0.00,160.17:0.00,57.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:112.9,112.8:0,0:0,0:43,69:101,82:41,41:-,NM_001198834.2(PDE4DIP) c.6952+64T>G:-,NOT_FOUND:-,NOT_FOUND 1 144854491 rs2798856 T G 197 nt VT=SNV;PN=T;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29735T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26563T>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+27A>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+27A>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+27A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:142:105:0:0:63,79:2098,2516:197.48,0.00:108.45,0.00:89.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:118.8,85.2:0,0:0,0:50,49:95,99:29,36:NM_001198834.2(PDE4DIP) c.6952+27A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144854497 rs2653676 A G 182 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29741A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26569A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+21T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+21T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:149:113:0:0:85,64:2760,1957:0.00,181.98:0.00,94.44:0.00,87.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:87.1,114.5:0,23:0,0:52,44:97,100:35,24:-,NM_001198834.2(PDE4DIP) c.6952+21T>C:-,NOT_FOUND:-,NOT_FOUND 1 144854501 . CCT C 59 nt VT=DEL;SST=Single;DP=149;NP=1318;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29749_5357+29750delTC;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26577_2583+26578delTC;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6952+15_6952+16delAG;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6952+15_6952+16delAG;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6634+15_6634+16delAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCT,C:149:112:0:24:125,24:3917,756:0.00,58.50:0.00,38.57:0.00,19.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:92.2,109.7:1,0:0,0:48,44:97,100:31,16:-,NM_001198834.2(PDE4DIP) c.6952+15_6952+16delAG:-,NOT_FOUND:-,NOT_FOUND 1 144854528 rs78461771 A G 186 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=181;DB;DBA=NA;PAF=NA;PC=0.988;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29772A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26600A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6942T>C;ProtCh=p.I2314=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.6942T>C;ProtCh=p.I2314=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6624T>C;ProtCh=p.I2208=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:181:133:0:0:114,67:3737,2056:0.00,185.67:0.00,119.55:0.00,66.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:67.8,118.5:0,0:0,0:53,56:91,95:27,35:-,NM_001198834.2(PDE4DIP) c.6942T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 144854537 rs3851872 T C 233 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=195;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29781T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26609T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6933A>G;ProtCh=p.E2311=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.6933A>G;ProtCh=p.E2311=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6615A>G;ProtCh=p.E2205=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:195:140:0:0:1,73,121:14,2542,3768:-0.13,233.29,0.00:-0.14,153.83,0.00:0.01,79.46,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:45,60,60:120.0,118.1,67.4:0,0,0:0,0,0:92,61,59:58,88,88:0,34,27:NM_001198834.2(PDE4DIP) c.6933A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 144854581 rs78371650 T C 145 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=227;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29825T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26653T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6889A>G;ProtCh=p.T2297A;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.6889A>G;ProtCh=p.T2297A;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6571A>G;ProtCh=p.T2191A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:227:162:0:0:50,177:1728,5562:144.71,0.00:83.58,0.00:61.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:140.0,61.7:0,0:0,0:45,68:106,79:28,37:NM_001198834.2(PDE4DIP) c.6889A>G (p.Thr2297Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 144854594 rs79028512 G T 143 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=2638;PC=0.979;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29838G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26666G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6876C>A;ProtCh=p.L2292=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.6876C>A;ProtCh=p.L2292=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6558C>A;ProtCh=p.L2186=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:226:159:0:0:172,54:5572,1715:0.00,143.33:0.00,88.61:0.00,54.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:59.1,135.3:0,0:0,0:69,53:78,97:38,24:-,NM_001198834.2(PDE4DIP) c.6876C>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 144854597 rs3851873 T C 433 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=221;DB;DBA=NA;PAF=NA;PC=0.083;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29841T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26669T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6873A>G;ProtCh=p.R2291=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.6873A>G;ProtCh=p.R2291=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6555A>G;ProtCh=p.R2185=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:221:156:0:0:1,131,89:13,4347,2716:-0.09,432.68,0.00:0.01,239.50,0.00:-0.09,193.18,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.0,117.4,23.1:0,0,0:0,0,0:51,72,65:100,78,80:0,36,38:NM_001198834.2(PDE4DIP) c.6873A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 144854598 rs3863691 C T 218 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=225;DB;DBA=NA;PAF=NA;NP=3480;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29842C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26670C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6872G>A;ProtCh=p.R2291Q;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.6872G>A;ProtCh=p.R2291Q;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6554G>A;ProtCh=p.R2185Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:225:159:0:0:151,74:4766,2441:0.00,217.52:0.00,110.58:0.00,106.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.1,105.2:0,0:0,0:69,90:79,60:34,33:-,NM_001198834.2(PDE4DIP) c.6872G>A (p.Arg2291Gln):-,NOT_FOUND:-,NOT_FOUND 1 144854657 . C . . NT END=144855739;NT GT ./. 1 144854675 rs79179886 C T 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=195;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29919C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26747C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-19G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-19G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-19G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:195:110:0:0:167,28:5620,880:0.00,66.58:0.00,24.46:0.00,42.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.8,90.0:0,0:0,0:85,114:58,35:32,16:-,NM_001198834.2(PDE4DIP) c.6814-19G>A:-,0.07:-,0.028448 1 144854730 rs75855616 A G 101 nt VT=SNV;PN=A;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29974A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26802A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-74T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-74T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:122:42:0:0:87,1,34:2741,10,1163:0.00,-0.22,101.34:0.00,-0.06,27.92:0.00,-0.16,73.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,60:23.4,121.0,118.0:0,0,0:0,0,0:105,84,99:43,29,47:26,0,23:-,NM_001198834.2(PDE4DIP) c.6814-74T>C:-,NOT_FOUND:-,NOT_FOUND 1 144854750 rs75538208 G A 85 nt VT=SNV;PN=A;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+29994G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26822G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-94C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-94C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:93:24:0:0:30,63:957,2125:84.60,0.00:12.07,0.00:72.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:137.1,34.5:0,0:0,0:112,107:37,43:15,23:NM_001198834.2(PDE4DIP) c.6814-94C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854761 rs79445592 T C 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30005T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26833T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-105A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-105A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-105A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:21:0:0:25,59:783,1794:68.04,0.00:11.17,0.00:56.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:152.6,40.9:0,0:0,0:123,115:28,34:17,21:NM_001198834.2(PDE4DIP) c.6814-105A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144854765 . T C 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=80;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30009T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26837T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-109A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-109A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-109A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:19:0:0:25,55:807,1711:71.04,0.00:10.73,0.00:60.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:155.4,37.5:0,0:0,0:114,119:34,31:20,20:NM_001198834.2(PDE4DIP) c.6814-109A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144854793 rs5004098 C T 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30037C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26865C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-137G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-137G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-137G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:3:0:0:32,21:902,722:0.00,66.78:0.00,-0.43:0.00,67.21:0.00,1.00:0.00,0.80:0.00,1.00:60,60:73.7,121.6:0,0:0,0:120,100:30,51:21,22:-,NM_001198834.2(PDE4DIP) c.6814-137G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854795 rs2861512 G A 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30039G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26867G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-139C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-139C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-139C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:2:0:0:14,36:400,1189:33.79,0.00:-0.21,0.00:34.00,0.00:1.00,0.00:0.57,0.00:1.00,0.00:60,60:157.6,77.8:0,0:0,0:107,109:44,42:33,26:NM_001198834.2(PDE4DIP) c.6814-139C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854799 rs5004097 C T 65 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30043C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26871C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-143G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-143G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:0:0:0:28,21:796,690:0.00,64.54:0.00,0.00:0.00,64.54:0.00,1.00:0.00,0.00:0.00,1.00:60,60:81.5,121.6:0,0:0,0:115,106:36,45:29,22:-,NM_001198834.2(PDE4DIP) c.6814-143G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854818 rs76343371 C T 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30062C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26890C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-162G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-162G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-162G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:0:0:0:29,13:960,385:0.00,33.40:0.00,0.00:0.00,33.40:0.00,1.00:0.00,0.00:0.00,1.00:60,40:104.7,136.5:0,0:0,0:117,92:34,55:21,38:-,NM_001198834.2(PDE4DIP) c.6814-162G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854836 rs61805002 C T 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30080C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26908C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-180G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-180G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-180G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:0:0:0:19,16:534,504:0.00,47.59:0.00,0.00:0.00,47.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:68.2,167.4:0,0:0,0:97,115:53,34:44,28:-,NM_001198834.2(PDE4DIP) c.6814-180G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854844 rs61805003 A T 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30088A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26916A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-188T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-188T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-188T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:0:0:0:16,13:440,401:0.00,37.66:0.00,0.00:0.00,37.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:55.2,182.5:0,0:0,0:88,109:52,42:41,25:-,NM_001198834.2(PDE4DIP) c.6814-188T>A:-,NOT_FOUND:-,NOT_FOUND 1 144854883 rs113368089 T C 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30127T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26955T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-227A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-227A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-227A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:0:0:0:8,15:260,357:23.41,0.00:0.00,0.00:23.41,0.00:0.99,0.00:0.00,0.00:0.99,0.00:56,60:210.5,52.7:0,0:0,0:96,64:55,87:27,27:NM_001198834.2(PDE4DIP) c.6814-227A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144854906 rs201284520 C A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30150C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26978C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-250G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-250G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-250G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,C,T:21:0:0:0:6,14,1:144,373,10:11.95,0.00,0.05:0.00,0.00,0.00:11.95,0.00,0.05:0.93,0.00,0.00:0.00,0.00,0.00:0.93,0.00,0.00:50,57,40:223.5,40.4,159.0:0,0,0:0,0,0:101,77,60:50,73,91:20,26,0:NM_001198834.2(PDE4DIP) c.6814-250G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144854909 rs2312481 C T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30153C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26981C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-253G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-253G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-253G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:19:0:0:0:14,5:318,132:0.00,10.88:0.00,0.00:0.00,10.88:0.00,0.86:0.00,0.00:0.00,0.86:57,40:45.9,228.8:0,0:0,0:68,101:82,50:26,6:-,NM_001198834.2(PDE4DIP) c.6814-253G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854912 rs146310402 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30156C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26984C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-256G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-256G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-256G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,T:19:0:0:0:14,5:410,162:0.00,13.83:0.00,0.00:0.00,13.83:0.00,0.86:0.00,0.00:0.00,0.86:57,40:45.9,228.8:0,0:0,0:71,104:79,47:26,6:-,NM_001198834.2(PDE4DIP) c.6814-256G>A:-,NOT_FOUND:-,NOT_FOUND 1 144854923 rs61805004 A T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30167A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26995A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-267T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-267T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-267T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,T:18:0:0:0:14,4:404,109:0.00,8.68:0.00,0.00:0.00,8.68:0.00,0.73:0.00,0.00:0.00,0.73:57,40:45.9,218.2:0,0:0,0:82,113:68,38:26,5:-,NM_001198834.2(PDE4DIP) c.6814-267T>A:-,NOT_FOUND:-,NOT_FOUND 1 144854925 rs61805005 C A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=7;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30169C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+26997C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6814-269G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6814-269G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6496-269G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,C:18:0:0:0:4,14:127,413:10.47,0.00:0.00,0.00:10.47,0.00:0.73,0.00:0.00,0.00:0.73,0.00:40,57:218.2,45.9:0,0:0,0:115,84:36,66:5,26:NM_001198834.2(PDE4DIP) c.6814-269G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144855428 rs1699756 A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30672A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+27500A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6813+312T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6813+312T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6495+312T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:7:7:0:0:3,4:95,134:0.00,13.23:0.00,13.23:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:17.0,71.8:0,0:0,0:32,49:119,102:14,20:-,NM_001198834.2(PDE4DIP) c.6813+312T>C:-,NOT_FOUND:-,NOT_FOUND 1 144855532 rs1699755 T C 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30776T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+27604T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6813+208A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6813+208A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6495+208A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:9,12:287,361:26.77,0.00:26.77,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:69.8,4.6:0,0:0,0:17,64:134,87:14,33:NM_001198834.2(PDE4DIP) c.6813+208A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144855558 rs1698583 T C 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+30802T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+27630T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6813+182A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6813+182A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6495+182A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:8,13:280,400:25.76,0.00:25.76,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:80.6,4.2:0,0:0,0:40,59:110,92:7,34:NM_001198834.2(PDE4DIP) c.6813+182A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144855812 rs1699754 T C 227 lc VT=SNV;PN=C;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+31056T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+27884T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6741A>G;ProtCh=p.S2247=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.6741A>G;ProtCh=p.S2247=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6423A>G;ProtCh=p.S2141=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:173:125:0:0:1,79,93:15,2404,2982:-0.05,226.53,0.00:-0.12,142.57,0.00:0.07,83.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,60,60:82.0,54.7,5.7:0,0,0:0,0,0:4,100,76:147,51,75:0,25,39:NM_001198834.2(PDE4DIP) c.6741A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 144855866 rs1698582 A G 238 lc VT=SNV;PN=T;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=3311;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+31110A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+27938A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6687T>C;ProtCh=p.G2229=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.6687T>C;ProtCh=p.G2229=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6369T>C;ProtCh=p.G2123=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:167:102:0:0:93,1,73:2797,9,2521:0.00,-0.19,237.56:0.00,-0.11,108.23:0.00,-0.08,129.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,50,60:6.8,90.0,72.2:0,0,0:0,0,0:81,78,70:67,71,81:34,0,38:-,NM_001198834.2(PDE4DIP) c.6687T>C (p.(=)):-,0.39:-,NOT_FOUND 1 144855884 . C . . NT END=144856815;NT GT ./. 1 144855935 rs1698581 A G 185 nt VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+31179A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+28007A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6670-52T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6670-52T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6352-52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:126:56:0:0:64,61,1:2049,1932,14:0.00,184.51,-0.03:0.00,61.04,-0.06:0.00,123.47,0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,50:7.4,61.8,90.0:0,0,0:0,0,0:101,77,147:44,68,2:26,26,0:-,NM_001198834.2(PDE4DIP) c.6670-52T>C:-,NOT_FOUND:-,NOT_FOUND 1 144856160 rs1698580 T C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+31404T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+28232T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6670-277A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6670-277A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6352-277A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:C,T:11:0:0:0:4,7:137,225:12.48,0.00:0.00,0.00:12.48,0.00:0.82,0.00:0.00,0.00:0.82,0.00:43,60:34.2,16.1:0,0:0,0:129,63:20,88:10,7:NM_001198834.2(PDE4DIP) c.6670-277A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144856166 rs4124917 C A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=40;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+31410C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+28238C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6670-283G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6670-283G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6352-283G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,C:12:0:0:0:3,9:102,253:8.71,0.00:0.00,0.00:8.71,0.00:0.59,0.00:0.00,0.00:0.59,0.00:60,60:37.0,18.8:0,0:0,0:69,130:82,19:2,20:NM_001198834.2(PDE4DIP) c.6670-283G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144857043 . C . . NT END=144857611;NT GT ./. 1 144857068 rs905324 A T 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=3189;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+32312A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+29140A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6443-26T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6443-26T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6125-26T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:77:25:0:0:36,41:1121,1286:0.00,124.99:0.00,29.15:0.00,95.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.7,48.9:0,0:0,0:116,112:35,36:22,24:-,NM_001198834.2(PDE4DIP) c.6443-26T>A:-,NOT_FOUND:-,NOT_FOUND 1 144857142 rs71246354 G A 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=424;PC=0.025;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+32386G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+29214G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6443-100C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6443-100C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6125-100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:34:0:0:0:7,27:179,829:13.76,0.00:0.00,0.00:13.76,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:86.9,30.0:0,0:0,0:124,93:27,58:26,28:NM_001198834.2(PDE4DIP) c.6443-100C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144857436 rs1778132 G A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=3248;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+32680G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+29508G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6442+176C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6442+176C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6124+176C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:16:0:0:9,8:256,256:24.75,0.00:22.56,0.00:2.20,0.00:1.00,0.00:1.00,0.00:0.69,0.00:60,50:48.0,21.9:0,0:0,0:67,45:83,105:40,42:NM_001198834.2(PDE4DIP) c.6442+176C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144857499 . G T 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;NP=299;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+32743G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+29571G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6442+113C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6442+113C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6124+113C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:24:23:0:0:16,8:477,233:0.00,20.49:0.00,20.67:0.00,-0.18:0.00,0.99:0.00,1.00:0.00,0.56:60,60:26.8,34.8:0,0:0,0:56,31:94,119:36,19:-,NM_001198834.2(PDE4DIP) c.6442+113C>A:-,NOT_FOUND:-,NOT_FOUND 1 144857729 . C . . NT END=144859758;NT GT ./. 1 144857876 rs1698578 T G 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+33120T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+29948T>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6326-148A>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6326-148A>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6008-148A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:0:0:0:10,15:322,491:29.64,0.00:0.00,0.00:29.64,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.8,2.1:0,0:0,0:87,100:63,49:32,30:NM_001198834.2(PDE4DIP) c.6326-148A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144859624 rs1699820 T C 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+34868T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+31696T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6325+135A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6325+135A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6007+135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:51:0:0:30,22:1022,660:101.12,0.00:98.07,0.00:3.05,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:64.0,30.9:0,0:0,0:48,28:102,122:32,26:NM_001198834.2(PDE4DIP) c.6325+135A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144859720 rs678786 G C 526 nt VT=SNV;PN=C;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+34964G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+31792G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6325+39C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6325+39C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.6007+39C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:143:130:0:0:143:4578:525.91:401.29:124.62:1.00:1.00:1.00:60:46.9:0:0:48:102:27:NM_001198834.2(PDE4DIP) c.6325+39C>G,NM_001198834.2(PDE4DIP) c.6325+39C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 144859999 . C . . NT END=144863317;NT GT ./. 1 144860026 rs1699819 G C 237 nt VT=SNV;PN=T;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+35270G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+32098G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6086-28C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6086-28C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5768-28C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:141:46:0:0:76,65:2427,2143:236.56,0.00:53.32,0.00:183.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.5,6.2:0,0:0,0:97,97:48,52:31,23:NM_001198834.2(PDE4DIP) c.6086-28C>G,-:0.5,-:NOT_FOUND,- 1 144860131 rs1699818 A G 75 nt VT=SNV;PN=G;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+35375A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+32203A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6086-133T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6086-133T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5768-133T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:2:0:0:23,24:720,772:0.00,74.50:0.00,1.64:0.00,72.86:0.00,1.00:0.00,0.80:0.00,1.00:60,60:7.9,55.1:0,0:0,0:88,99:63,52:35,36:-,NM_001198834.2(PDE4DIP) c.6086-133T>C:-,NOT_FOUND:-,NOT_FOUND 1 144860285 rs1698573 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+35529A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+32357A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6086-287T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6086-287T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5768-287T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:4:0:0:0:1,3:32,100:0.00,10.45:0.00,0.00:0.00,10.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,61.0:0,0:0,0:128,85:23,64:0,0:-,NM_001198834.2(PDE4DIP) c.6086-287T>C:-,NOT_FOUND:-,NOT_FOUND 1 144863130 rs61806601 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+38374G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+35202G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6085+188C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6085+188C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5767+188C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:14:14:0:0:5,9:146,238:13.04,0.00:13.04,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:56.8,29.7:0,0:0,0:16,36:134,111:5,13:NM_001198834.2(PDE4DIP) c.6085+188C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144863207 . C T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;NP=15;NP=1845;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+38451C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+35279C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6085+111G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6085+111G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5767+111G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:37:37:0:0:31,6:1074,169:0.00,12.69:0.00,11.21:0.00,1.48:0.00,0.88:0.00,0.88:0.00,0.51:60,60:22.4,92.3:0,0:0,0:66,51:84,99:41,19:-,NM_001198834.2(PDE4DIP) c.6085+111G>A:-,NOT_FOUND:-,NOT_FOUND 1 144863208 rs1699813 A G 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.4754,C/0.5246;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+38452A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+35280A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6085+110T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.6085+110T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5767+110T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:37:0:0:19,18:604,547:0.00,52.09:0.00,48.66:0.00,3.42:0.00,1.00:0.00,1.00:0.00,0.93:60,60:17.6,50.5:0,0:0,0:69,51:82,98:29,30:-,NM_001198834.2(PDE4DIP) c.6085+110T>C:-,NOT_FOUND:-,NOT_FOUND 1 144863401 rs71225704 T C 111 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+38645T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+35473T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.6002A>G;ProtCh=p.E2001G;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.6002A>G;ProtCh=p.E2001G;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5684A>G;ProtCh=p.E1895G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:133:95:0:0:41,92:1272,3073:111.08,0.00:59.92,0.00:51.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,13.4:0,0:0,0:76,82:74,60:26,43:NM_001198834.2(PDE4DIP) c.6002A>G (p.Glu2001Gly),-:0.1,-:0.097647,- 1 144863443 . C . . NT END=144864134;NT GT ./. 1 144863505 rs642016 A G 119 nt VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=3081;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+38749A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+35577A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5961-63T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5961-63T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5643-63T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:40:0:0:57,40:1878,1280:0.00,118.52:0.00,45.60:0.00,72.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.8,43.9:0,0:0,0:83,90:64,47:24,35:-,NM_001198834.2(PDE4DIP) c.5961-63T>C:-,NOT_FOUND:-,NOT_FOUND 1 144863613 rs1699812 C T 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+38857C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+35685C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5961-171G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5961-171G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5643-171G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:1:0:0:18,16:498,487:0.00,46.13:0.00,3.45:0.00,42.68:0.00,1.00:0.00,0.65:0.00,1.00:60,60:21.8,37.3:0,0:0,0:82,115:69,34:45,27:-,NM_001198834.2(PDE4DIP) c.5961-171G>A:-,NOT_FOUND:-,NOT_FOUND 1 144863737 rs1698594 C G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+38981C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+35809C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5961-295G>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5961-295G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5643-295G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,G:7:1:0:0:4,3:133,106:0.00,9.96:0.00,3.71:0.00,6.25:0.00,0.69:0.00,0.62:0.00,0.95:60,50:17.8,35.3:0,0:0,0:125,64:25,87:11,14:-,NM_001198834.2(PDE4DIP) c.5961-295G>C:-,NOT_FOUND:-,NOT_FOUND 1 144864325 . C . . NT END=144865809;NT GT ./. 1 144864454 rs1747948 G A 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+39698G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+36526G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5771-130C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5771-130C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5453-130C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:0:0:0:17,12:515,363:51.03,0.00:0.00,0.00:51.03,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.0,11.1:0,0:0,0:85,88:66,62:36,20:NM_001198834.2(PDE4DIP) c.5771-130C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144864491 rs1698595 T C 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+39735T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+36563T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5771-167A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5771-167A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5453-167A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:0:0:0:13,10:343,328:33.58,0.00:0.00,0.00:33.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:56.7,8.1:0,0:0,0:95,113:56,37:24,12:NM_001198834.2(PDE4DIP) c.5771-167A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144865627 rs745937 T C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+40871T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+37699T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5770+183A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5770+183A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5452+183A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:C,T:22:22:0:0:3,19:88,580:6.43,0.00:6.43,0.00:0.00,0.00:0.48,0.00:0.48,0.00:0.00,0.00:60,60:48.7,6.7:0,0:0,0:63,45:88,106:17,27:NM_001198834.2(PDE4DIP) c.5770+183A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144865850 rs1613780 G T 175 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=160;DB;DBA=NA;PAF=NA;PC=0.998;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+41094G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+37922G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5730C>A;ProtCh=p.D1910E;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.5730C>A;ProtCh=p.D1910E;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5412C>A;ProtCh=p.D1804E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:160:119:0:0:99,61:3261,1922:0.00,175.06:0.00,94.80:0.00,80.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,37.9:0,0:0,0:67,80:81,66:32,32:-,NM_001198834.2(PDE4DIP) c.5730C>A (p.Asp1910Glu):-,0.5:-,NOT_FOUND 1 144865930 . C . . NT END=144866591;NT GT ./. 1 144866218 rs1617148 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+41462A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+38290A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5651-289T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5651-289T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5333-289T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,G:10:2:0:0:4,6:115,194:0.00,19.34:0.00,6.91:0.00,12.43:0.00,0.99:0.00,0.87:0.00,1.00:60,60:2.8,38.7:0,0:0,0:105,133:45,16:28,11:-,NM_001198834.2(PDE4DIP) c.5651-289T>C:-,NOT_FOUND:-,NOT_FOUND 1 144866400 rs924666 T C 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+41644T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+38472T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5650+192A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5650+192A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5332+192A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:11,9:351,291:34.30,0.00:34.30,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:52.9,3.1:0,0:0,0:82,45:68,106:41,33:NM_001198834.2(PDE4DIP) c.5650+192A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144866509 rs924667 G A 106 nt VT=SNV;PN=C;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+41753G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+38581G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5650+83C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5650+83C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5332+83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:75:0:0:35,43:1125,1245:105.97,0.00:92.29,0.00:13.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.4,5.4:0,0:0,0:26,30:122,108:17,24:NM_001198834.2(PDE4DIP) c.5650+83C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144866643 rs1620560 G A 300 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=197;DB;DBA=NA;PAF=NA;PC=0.996;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+41887G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+38715G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5599C>T;ProtCh=p.R1867C;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.5599C>T;ProtCh=p.R1867C;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5281C>T;ProtCh=p.R1761C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:197:142:0:0:93,104:3143,3254:299.50,0.00:136.13,0.00:163.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.8,8.1:0,0:0,0:80,73:68,65:33,29:NM_001198834.2(PDE4DIP) c.5599C>T (p.Arg1867Cys),-:0.5,-:NOT_FOUND,- 1 144866662 rs1064044 T C 282 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=194;DB;DBA=NA;PAF=NA;PC=0.996;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+41906T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+38734T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5580A>G;ProtCh=p.E1860=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.5580A>G;ProtCh=p.E1860=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.5262A>G;ProtCh=p.E1754=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:194:133:0:0:90,104:2970,3303:281.72,0.00:127.95,0.00:153.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.1,10.6:0,0:0,0:85,94:58,48:35,32:NM_001198834.2(PDE4DIP) c.5580A>G (p.(=)),-:0.53,-:NOT_FOUND,- 1 144866724 . C . . NT END=144867920;NT GT ./. 1 144868170 rs1628310 C T 153 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=145;DB;DBA=NA;PAF=NA;PC=0.906;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+43414C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+40242C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5269G>A;ProtCh=p.A1757T;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.5269G>A;ProtCh=p.A1757T;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4951G>A;ProtCh=p.A1651T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:145:59:0:0:89,56:2910,1684:0.00,153.02:0.00,37.56:0.00,115.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,61.7:0,0:0,0:88,101:62,43:32,30:-,NM_001198834.2(PDE4DIP) c.5269G>A (p.Ala1757Thr):-,0.5:-,NOT_FOUND 1 144868173 . C . . NT END=144871695;NT GT ./. 1 144868204 rs1747951 A C 103 nt VT=SNV;PN=A;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+43448A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+40276A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5267-32T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5267-32T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4949-32T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:107:34:0:0:72,35:2303,1159:0.00,103.24:0.00,21.64:0.00,81.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,78.1:0,0:0,0:102,106:45,43:25,23:-,NM_001198834.2(PDE4DIP) c.5267-32T>G:-,0.5:-,NOT_FOUND 1 144868239 rs1618966 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=1452;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+43483G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+40311G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5267-67C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5267-67C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4949-67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:72:26:0:0:10,62:302,2046:22.43,0.00:3.34,0.00:19.09,0.00:0.99,0.00:0.94,0.00:1.00,0.00:60,60:99.5,21.0:0,0:0,0:120,113:30,36:24,22:NM_001198834.2(PDE4DIP) c.5267-67C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144868350 rs677338 T C 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.00619,A/0.9938;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+43594T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+40422T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5267-178A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5267-178A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4949-178A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:0:0:0:20:657:75.19:0.00:75.19:1.00:0.00:1.00:60:41.9:0:0:104:46:34:NM_001198834.2(PDE4DIP) c.5267-178A>G,NM_001198834.2(PDE4DIP) c.5267-178A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 144871738 rs1698605 C A 201 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=174;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+46982C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+43810C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5224G>T;ProtCh=p.A1742S;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.5224G>T;ProtCh=p.A1742S;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4948+2139G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:174:144:0:0:70,104:2186,3470:201.07,0.00:121.30,0.00:79.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:88.8,6.0:0,0:0,0:75,64:75,82:27,32:NM_001198834.2(PDE4DIP) c.5224G>T (p.Ala1742Ser),-:0.5,-:NOT_FOUND,- 1 144871755 rs1778159 A T 215 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=173;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+46999A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+43827A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5207T>A;ProtCh=p.V1736E;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.5207T>A;ProtCh=p.V1736E;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4948+2122T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:173:132:0:0:102,71:3347,2321:0.00,215.06:0.00,119.31:0.00,95.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,94.0:0,0:0,0:71,87:74,63:29,30:-,NM_001198834.2(PDE4DIP) c.5207T>A (p.Val1736Glu):-,NOT_FOUND:-,NOT_FOUND 1 144871782 rs1778158 A G 222 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=182;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+47026A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+43854A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5180T>C;ProtCh=p.L1727P;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.5180T>C;ProtCh=p.L1727P;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4948+2095T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:182:118:0:0:106,75,1:3521,2399,25:0.00,222.31,0.53:0.00,93.68,0.26:0.00,128.63,0.26:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.6,94.2,25.0:0,0,0:0,0,0:74,89,80:73,61,71:29,31,0:-,NM_001198834.2(PDE4DIP) c.5180T>C (p.Leu1727Pro):-,NOT_FOUND:-,NOT_FOUND 1 144871882 . C . . NT END=144873876;NT GT ./. 1 144871889 rs1698606 A C 120 nt VT=SNV;PN=A;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=NA;PC=0.933;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+47133A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+43961A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5081-8T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5081-8T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4948+1988T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:107:38:0:0:65,41,1:2049,1311,14:0.00,119.93,-0.04:0.00,32.40,-0.06:0.00,87.53,0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.5,53.8,70.0:0,0,0:0,0,0:90,98,12:56,50,139:31,24,0:-,NM_001198834.2(PDE4DIP) c.5081-8T>G:-,0.5:-,NOT_FOUND 1 144873794 rs1610833 C T 68 nt VT=SNV;PN=T;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49038C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+45866C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5080+83G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5080+83G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4948+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:50:48:0:0:1,25,24:10,828,718:-0.04,0.00,68.46:0.00,0.00,61.32:-0.04,0.00,7.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:78.0,1.7,112.0:0,0,0:0,0,0:143,63,40:8,87,111:0,37,27:-,NM_001198834.2(PDE4DIP) c.5080+83G>A:-,NOT_FOUND:-,NOT_FOUND 1 144873818 rs1610566 A G 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49062A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+45890A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5080+59T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5080+59T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4948+59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:59:0:0:33,31:1071,1019:0.00,97.44:0.00,80.50:0.00,16.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,108.9:0,0:0,0:35,44:116,106:27,29:-,NM_001198834.2(PDE4DIP) c.5080+59T>C:-,NOT_FOUND:-,NOT_FOUND 1 144873840 rs1627335 A G 109 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49084A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+45912A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5080+37T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.5080+37T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4948+37T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:71:0:0:40,38:1337,1146:0.00,109.13:0.00,74.91:0.00,34.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,102.7:0,0:0,0:39,49:110,100:28,30:-,NM_001198834.2(PDE4DIP) c.5080+37T>C:-,0.5:-,NOT_FOUND 1 144873887 rs1699787 C T 173 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49131C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+45959C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.5070G>A;ProtCh=p.Q1690=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.5070G>A;ProtCh=p.Q1690=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4938G>A;ProtCh=p.Q1646=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:121:103:0:0:65,56:2135,1821:0.00,172.50:0.00,101.98:0.00,70.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,72.8:0,0:0,0:46,49:96,87:27,27:-,NM_001198834.2(PDE4DIP) c.5070G>A (p.(=)):-,0.5:-,NOT_FOUND 1 144873962 . CT C 74 PASS VT=DEL;SST=Single;DP=145;NP=2374;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49207delT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46035delT;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4994delA;ProtCh=p.Q1665Rfs*105;VC=FrameShiftDel;Gene=PDE4DIP/NM_014644.5/1;CC=c.4994delA;ProtCh=p.Q1665Rfs*105;VC=FrameShiftDel;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4862delA;ProtCh=p.Q1621Rfs*43;VC=FrameShiftDel;DM=PDE4DIP/DUF1220;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,C:145:100:0:31:113,1,31:3747,11,914:0.00,-0.25,73.64:0.00,-0.06,30.63:0.00,-0.19,43.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.3,94.0,50.1:0,0,0:0,0,0:75,58,66:72,68,74:29,0,38:-,NM_001198834.2(PDE4DIP) c.4994delA (p.Gln1665Argfs*105):-,0.27:-,0.391002 1 144874030 . C . . NT END=144874680;NT GT ./. 1 144874038 rs1419160 T C 130 nt VT=SNV;PN=A;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.986;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49282T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46110T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4928-9A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4928-9A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4796-9A>G;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:101:44:0:0:44,57:1393,1740:130.23,0.00:36.74,0.00:93.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.3,5.3:0,0:0,0:107,116:36,34:27,24:NM_001198834.2(PDE4DIP) c.4928-9A>G,-:0.5,-:NOT_FOUND,- 1 144874070 rs1610565 C T 100 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49314C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46142C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4928-41G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4928-41G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4796-41G>A;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:26:0:0:36,34:1223,1050:0.00,100.11:0.00,18.02:0.00,82.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,92.9:0,0:0,0:116,110:33,32:32,24:-,NM_001198834.2(PDE4DIP) c.4928-41G>A:-,0.5:-,NOT_FOUND 1 144874088 rs1419158 G C 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.093;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49332G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46160G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4928-59C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4928-59C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4796-59C>G;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:52:19:0:0:25,27:811,856:77.40,0.00:19.81,0.00:57.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:100.0,9.0:0,0:0,0:108,99:24,36:29,33:NM_001198834.2(PDE4DIP) c.4928-59C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144874226 rs74432883 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=267;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49470C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46298C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4928-197G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4928-197G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4796-197G>A;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:19:0:0:0:16,3:448,97:0.00,7.54:0.00,0.00:0.00,7.54:0.00,0.51:0.00,0.00:0.00,0.51:60,60:21.5,60.3:0,0:0,0:94,94:55,57:20,44:-,NM_001198834.2(PDE4DIP) c.4928-197G>A:-,NOT_FOUND:-,NOT_FOUND 1 144874471 rs1610768 T A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49715T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46543T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4927+210A>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4927+210A>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4795+210A>T;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,T:13:12:0:0:3,10:103,301:8.69,0.00:8.80,0.00:-0.11,0.00:0.58,0.00:0.92,0.00:0.49,0.00:60,60:68.3,36.8:0,0:0,0:22,70:129,68:12,32:NM_001198834.2(PDE4DIP) c.4927+210A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144874489 rs1699788 G A 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49733G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46561G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4927+192C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4927+192C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4795+192C>T;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:16:15:0:0:5,11:168,332:14.88,0.00:15.04,0.00:-0.16,0.00:0.88,0.00:0.99,0.00:0.54,0.00:60,60:61.4,34.4:0,0:0,0:28,78:122,73:16,34:NM_001198834.2(PDE4DIP) c.4927+192C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144874578 rs2296229 C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1587;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49822C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46650C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4927+103G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4927+103G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4795+103G>A;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T:28:28:0:0:24,4:754,133:0.00,10.22:0.00,10.22:0.00,0.00:0.00,0.66:0.00,0.66:0.00,0.00:60,60:27.1,70.5:0,0:0,0:62,21:87,129:36,9:-,NM_001198834.2(PDE4DIP) c.4927+103G>A:-,NOT_FOUND:-,NOT_FOUND 1 144874641 rs1610771 G C 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+49885G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46713G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4927+40C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4927+40C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4795+40C>G;VC=Intron;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:65:0:0:22,44:694,1380:61.65,0.00:57.47,0.00:4.18,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:63.3,14.2:0,0:0,0:30,23:116,125:17,17:NM_001198834.2(PDE4DIP) c.4927+40C>G,-:0.5,-:NOT_FOUND,- 1 144874760 rs1610774 T C 245 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=193;DB;DBA=NA;PAF=NA;PC=0.996;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+50004T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46832T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4848A>G;ProtCh=p.E1616=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.4848A>G;ProtCh=p.E1616=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4716A>G;ProtCh=p.E1572=;VC=Silent;DM=PDE4DIP/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:193:161:0:0:78,2,113:2639,21,3525:245.02,-0.26,0.00:178.20,-0.06,0.00:66.82,-0.20,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.1,64.0,6.1:0,0,0:0,0,0:63,78,62:84,66,80:29,29,35:NM_001198834.2(PDE4DIP) c.4848A>G (p.(=)),-:0.5,-:NOT_FOUND,- 1 144874815 rs1778155 T C 113 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=224;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+50059T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+46887T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4793A>G;ProtCh=p.H1598R;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.4793A>G;ProtCh=p.H1598R;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4661A>G;ProtCh=p.H1554R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:224:157:0:0:44,180:1401,5905:112.93,0.00:57.61,0.00:55.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.4,12.0:0,0:0,0:72,56:70,84:38,32:NM_001198834.2(PDE4DIP) c.4793A>G (p.His1598Arg),-:NOT_FOUND,-:0.26958,- 1 144874905 . C . . NT END=144875976;NT GT ./. 1 144874950 rs1747957 G A 188 nt VT=SNV;PN=A;NN=C;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+50194G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+47022G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4704-46C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4704-46C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4572-46C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:121:52:0:0:62,59:1947,1979:187.85,0.00:56.05,0.00:131.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,5.3:0,0:0,0:112,101:38,45:12,26:NM_001198834.2(PDE4DIP) c.4704-46C>T,-:0.5,-:NOT_FOUND,- 1 144875799 rs764983 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+51043G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+47871G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4703+178C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4703+178C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4571+178C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,G:15:15:0:0:6,9:153,312:13.73,0.00:13.73,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:36.0,4.0:0,0:0,0:35,22:114,129:9,17:NM_001198834.2(PDE4DIP) c.4703+178C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144875916 rs71664004 G A 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=659;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+51160G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+47988G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4703+61C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4703+61C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4571+61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:45:0:0:11,37:344,1123:28.45,0.00:22.42,0.00:6.03,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:39.2,5.4:0,0:0,0:25,46:125,105:14,37:NM_001198834.2(PDE4DIP) c.4703+61C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144876029 . C . . NT END=144877035;NT GT ./. 1 144877176 rs2762875 C T 155 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+52420C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+49248C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4511G>A;ProtCh=p.R1504Q;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.4511G>A;ProtCh=p.R1504Q;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4379G>A;ProtCh=p.R1460Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:73:0:0:68,50:2061,1664:0.00,155.35:0.00,48.54:0.00,106.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,47.7:0,0:0,0:71,77:67,71:41,31:-,NM_001198834.2(PDE4DIP) c.4511G>A (p.Arg1504Gln):-,0.5:-,NOT_FOUND 1 144877272 . C . . NT END=144879034;NT GT ./. 1 144877366 rs1807092 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+52610A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+49438A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4416-95T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4416-95T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4284-95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:34:2:0:0:24,1,9:708,11,232:0.00,-0.01,19.10:0.00,-0.01,2.97:0.00,0.00,16.13:0.00,0.00,0.99:0.00,0.00,0.55:0.00,0.00,1.00:60,60,60:23.7,183.0,59.3:0,0,0:0,0,0:109,124,49:42,19,102:29,0,17:-,NM_001198834.2(PDE4DIP) c.4416-95T>C:-,NOT_FOUND:-,NOT_FOUND 1 144877390 rs1807093 G A 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+52634G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+49462G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4416-119C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4416-119C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4284-119C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:26:1:0:0:9,1,16:276,18,522:24.80,0.64,0.00:1.61,0.00,0.00:23.18,0.64,0.00:0.99,0.00,0.00:0.56,0.00,0.00:1.00,0.00,0.00:60,60,60:59.3,104.0,15.9:0,0,0:0,0,0:73,58,115:78,65,35:17,0,28:NM_001198834.2(PDE4DIP) c.4416-119C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144878928 rs2762876 G T 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+54172G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+51000G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4415+107C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.4415+107C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4283+107C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:55:55:0:0:27,28:833,856:0.00,82.38:0.00,72.68:0.00,9.70:0.00,1.00:0.00,1.00:0.00,0.99:60,60:12.7,41.4:0,0:0,0:27,23:123,128:23,17:-,NM_001198834.2(PDE4DIP) c.4415+107C>A:-,NOT_FOUND:-,NOT_FOUND 1 144879090 rs1778120 T C 138 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=221;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+54334T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+51162T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4360A>G;ProtCh=p.K1454E;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.4360A>G;ProtCh=p.K1454E;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4228A>G;ProtCh=p.K1410E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:221:178:0:0:49,172:1651,5497:137.73,0.00:90.03,0.00:47.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,9.6:0,0:0,0:61,77:87,66:43,33:NM_001198834.2(PDE4DIP) c.4360A>G (p.Lys1454Glu),-:0.27,-:0.124712,- 1 144879264 rs2798901 A G 513 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=226;DB;DBA=NA;PAF=C/0.2899,A/.,T/0.7101;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+54508A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+51336A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4186T>C;ProtCh=p.W1396R;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.4186T>C;ProtCh=p.W1396R;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.4054T>C;ProtCh=p.W1352R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:226:139:0:0:62,1,163:2086,10,4928:0.00,-0.06,512.54:0.00,-0.05,254.56:0.00,-0.02,257.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,45,60:9.0,180.0,41.5:0,0,0:0,0,0:88,48,65:61,103,85:32,0,38:-,NM_001198834.2(PDE4DIP) c.4186T>C (p.Trp1396Arg):-,0.76:-,NOT_FOUND 1 144879375 rs1747958 T C 359 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=240;DB;DBA=NA;PAF=NA;PC=0.898;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+54619T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+51447T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.4075A>G;ProtCh=p.K1359E;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.4075A>G;ProtCh=p.K1359E;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3943A>G;ProtCh=p.K1315E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,I:240:148:1:0:117,122,1:3753,3936,15:359.06,0.00,-0.08:190.39,0.00,0.03:168.67,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,48:39.8,17.7,182.0:0,0,2:0,0,0:79,76,66:68,68,84:28,37,0:NM_001198834.2(PDE4DIP) c.4075A>G (p.Lys1359Glu),-:0.5,-:NOT_FOUND,- 1 144879564 . C . . NT END=144880741;NT GT ./. 1 144880832 rs12568796 T C 145 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=248;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+56076T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+52904T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3796A>G;ProtCh=p.K1266E;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.3796A>G;ProtCh=p.K1266E;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3664A>G;ProtCh=p.K1222E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:248:141:0:0:55,193:1759,6371:145.20,0.00:63.49,0.00:81.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,7.5:0,0:0,0:90,75:58,72:30,30:NM_001198834.2(PDE4DIP) c.3796A>G (p.Lys1266Glu),-:0.2,-:0.202692,- 1 144880862 . C . . NT END=144881429;NT GT ./. 1 144881389 rs1614163 T C 118 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+56633T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+53461T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3766+41A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3766+41A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3634+41A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:65:0:0:37,33:1218,1025:118.45,0.00:100.64,0.00:17.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,9.8:0,0:0,0:32,64:118,87:17,33:NM_001198834.2(PDE4DIP) c.3766+41A>G,-:0.5,-:NOT_FOUND,- 1 144881623 . C . . NT END=144882445;NT GT ./. 1 144881711 rs937714 T G 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+56955T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+53783T>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3574-89A>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3574-89A>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3442-89A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:65:15:0:0:15,50:480,1563:39.92,0.00:7.62,0.00:32.30,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:41.2,10.9:0,0:0,0:79,106:72,43:39,34:NM_001198834.2(PDE4DIP) c.3574-89A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144881840 rs924672 A G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+57084A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+53912A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3574-218T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3574-218T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3442-218T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:17:0:0:0:8,1,8:273,10,236:0.00,0.19,22.57:0.00,0.00,0.00:0.00,0.19,22.57:0.00,0.00,0.99:0.00,0.00,0.00:0.00,0.00,0.99:60,60,60:3.2,103.0,63.5:0,0,0:0,0,0:119,52,137:31,71,13:15,0,5:-,NM_001198834.2(PDE4DIP) c.3574-218T>C:-,NOT_FOUND:-,NOT_FOUND 1 144882581 rs1699836 A G 386 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=258;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+57825A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+54653A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3438T>C;ProtCh=p.I1146=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.3438T>C;ProtCh=p.I1146=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3441+195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:258:179:0:0:132,126:4166,4033:0.00,385.70:0.00,187.84:0.00,197.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,41.7:0,0:0,0:76,69:70,79:42,35:-,NM_001198834.2(PDE4DIP) c.3438T>C (p.(=)):-,0.5:-,NOT_FOUND 1 144882823 rs1698647 C T 386 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=261;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+58067C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+54895C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3196G>A;ProtCh=p.A1066T;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.3196G>A;ProtCh=p.A1066T;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3394G>A;ProtCh=p.A1132T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:261:154:0:0:135,126:4537,4047:0.00,386.33:0.00,176.55:0.00,209.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,46.1:0,0:0,0:85,75:64,70:36,37:-,NM_001198834.2(PDE4DIP) c.3196G>A (p.Ala1066Thr):-,0.5:-,NOT_FOUND 1 144882882 . C . . NT END=144885309;NT GT ./. 1 144882912 rs1698646 G T 123 nt VT=SNV;PN=G;NN=T;SST=Single;DP=165;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+58156G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+54984G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3138-31C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3138-31C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3336-31C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:165:54:0:0:120,45:3791,1431:0.00,122.62:0.00,26.07:0.00,96.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.6,56.3:0,0:0,0:97,107:50,40:26,35:-,NM_001198834.2(PDE4DIP) c.3138-31C>A:-,0.29:-,0.246653 1 144885117 rs2762878 T A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+60361T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+57189T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3137+980A>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3137+980A>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3335+980A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,T:7:7:0:0:3,4:95,128:8.86,0.00:8.86,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:79.0,3.0:0,0:0,0:29,69:121,81:0,58:NM_001198834.2(PDE4DIP) c.3137+980A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144885134 rs924670 C A 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+60378C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+57206C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3137+963G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3137+963G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3335+963G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C:8:8:0:0:5,3:163,102:16.39,0.00:16.39,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:60.4,0.0:0,0:0,0:42,31:109,120:4,5:NM_001198834.2(PDE4DIP) c.3137+963G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144885313 . C . . NT END=144886096;NT GT ./. 1 144885479 rs1616903 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=512;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+60723C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+57551C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3137+618G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3137+618G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3335+618G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:18:0:0:0:13,5:362,147:0.00,12.47:0.00,0.00:0.00,12.47:0.00,0.87:0.00,0.00:0.00,0.87:60,60:8.8,73.0:0,0:0,0:65,87:84,62:27,29:-,NM_001198834.2(PDE4DIP) c.3137+618G>A:-,NOT_FOUND:-,NOT_FOUND 1 144886063 rs1625285 T C 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+61307T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+58135T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3137+34A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3137+34A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3335+34A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:60:0:0:28,35:871,1088:81.67,0.00:69.70,0.00:11.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.8,13.1:0,0:0,0:49,47:101,102:24,27:NM_001198834.2(PDE4DIP) c.3137+34A>G,-:0.5,-:NOT_FOUND,- 1 144886092 rs1343472 C T 115 nt VT=SNV;PN=T;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.916;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+61336C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+58164C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3137+5G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.3137+5G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3335+5G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:79:0:0:49,39:1555,1229:0.00,115.27:0.00,90.74:0.00,24.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,72.1:0,0:0,0:43,60:105,85:31,30:-,NM_001198834.2(PDE4DIP) c.3137+5G>A:-,0.5:-,NOT_FOUND 1 144886197 rs1698624 A T 171 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=141;DB;DBA=NA;PAF=NA;PC=0.012;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+61441A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+58269A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.3037T>A;ProtCh=p.F1013I;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.3037T>A;ProtCh=p.F1013I;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3235T>A;ProtCh=p.F1079I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:141:107:0:0:83,1,57:2523,9,1850:0.00,-0.20,171.14:0.00,-0.14,117.14:0.00,-0.06,54.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.4,63.0,46.3:0,0,0:0,0,0:84,105,73:58,45,76:33,0,34:-,NM_001198834.2(PDE4DIP) c.3037T>A (p.Phe1013Ile):-,0.5:-,NOT_FOUND 1 144886330 . C . . NT END=144890590;NT GT ./. 1 144886409 rs1620507 A C 92 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+61653A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+58481A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2905-80T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2905-80T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3103-80T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:52:3:0:0:22,30:628,935:0.00,92.43:0.00,3.65:0.00,88.77:0.00,1.00:0.00,0.93:0.00,1.00:60,60:26.3,47.1:0,0:0,0:89,102:61,47:28,16:-,NM_001198834.2(PDE4DIP) c.2905-80T>G:-,NOT_FOUND:-,NOT_FOUND 1 144890793 rs371479159 T A 75 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=150;DB;DBA=NA;PAF=A/0.9986,T/0.001398;NP=14;PC=0.976;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+66037T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+62865T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2904+1708A>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2904+1708A>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3102+1708A>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.*1421A>T;VC=3UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.*1421A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:150:102:0:0:30,120:937,3721:75.46,0.00:56.71,0.00:18.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.0,17.4:0,0:0,0:62,71:88,79:44,32:NM_001198834.2(PDE4DIP) c.2904+1708A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144890833 rs11447 T C 240 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=163;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+66077T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+62905T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2904+1668A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2904+1668A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3102+1668A>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.*1381A>G;VC=3UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.*1381A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:163:104:0:0:76,1,86:2522,15,2618:239.83,-0.04,0.00:129.27,-0.11,0.00:110.57,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.0,30.0,11.6:0,0,0:0,0,0:58,4,79:88,147,71:32,0,33:NM_001198834.2(PDE4DIP) c.2904+1668A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144891582 rs1778152 G T 264 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=180;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+66826G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+63654G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2904+919C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2904+919C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3102+919C>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.*632C>A;VC=3UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.*632C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:180:112:0:0:93,87:3019,2765:0.00,263.86:0.00,109.79:0.00,154.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,40.8:0,0:0,0:66,86:76,63:35,37:-,NM_001198834.2(PDE4DIP) c.2904+919C>A:-,NOT_FOUND:-,NOT_FOUND 1 144891803 rs1698711 G A 198 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=168;DB;DBA=NA;PAF=NA;PC=0.180;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+67047G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+63875G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2904+698C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2904+698C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3102+698C>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.*411C>T;VC=3UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.*411C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:168:105:0:0:71,97:2138,3232:197.93,0.00:115.73,0.00:82.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,10.3:0,0:0,0:71,79:79,65:42,36:NM_001198834.2(PDE4DIP) c.2904+698C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144892089 rs1614098 G T 231 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=204;DB;DBA=NA;PAF=NA;PC=0.069;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+67333G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+64161G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2904+412C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2904+412C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3102+412C>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.*125C>A;VC=3UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.*125C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:204:127:0:0:1,122,81:10,3890,2521:-0.21,0.00,231.44:-0.13,0.00,84.12:-0.08,0.00,147.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,60,60:125.0,5.5,55.8:0,0,0:0,0,0:107,64,74:44,76,74:0,34,34:-,NM_001198834.2(PDE4DIP) c.2904+412C>A:-,NOT_FOUND:-,NOT_FOUND 1 144892149 rs1698709 G A 199 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=168;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+67393G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+64221G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2904+352C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2904+352C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3102+352C>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.*65C>T;VC=3UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.*65C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:168:90:0:0:68,99,1:2153,3167,11:198.69,0.00,-0.18:65.97,0.00,-0.11:132.73,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.0,3.5,23.0:0,0,0:0,0,0:93,78,26:56,73,125:34,33,0:NM_001198834.2(PDE4DIP) c.2904+352C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144892220 . C . . NT END=144892500;NT GT ./. 1 144892368 rs1698708 A T 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+67612A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+64440A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2904+133T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2904+133T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3102+133T>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3393+133T>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2904+133T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:69:35:0:0:53,16:1707,456:0.00,37.02:0.00,19.21:0.00,17.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,47.6:0,0:0,0:100,120:51,31:28,26:-,NM_001198834.2(PDE4DIP) c.2904+133T>A:-,NOT_FOUND:-,NOT_FOUND 1 144892590 . C . . NT END=144892906;NT GT ./. 1 144892710 . C A 88 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;PC=0.039;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+67954C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+64782C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-121G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-121G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-121G>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-121G>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-121G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:66:15:0:0:30,36:934,1134:87.95,0.00:21.55,0.00:66.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.3,26.5:0,0:0,0:103,88:47,62:33,36:NM_001198834.2(PDE4DIP) c.2816-121G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144892788 rs607984 C A 275 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+68032C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+64860C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-199G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-199G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-199G>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-199G>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-199G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:77:47:0:0:77:2384:274.98:167.66:107.32:1.00:1.00:1.00:60:56.8:0:0:49:100:33:NM_001198834.2(PDE4DIP) c.2816-199G>T,NM_001198834.2(PDE4DIP) c.2816-199G>T:0.87,0.87:NOT_FOUND,NOT_FOUND 1 144892854 rs1699825 G A 124 nt VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=270;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+68098G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+64926G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-265C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-265C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-265C>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-265C>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-265C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:96:72:0:0:41,55:1326,1612:123.75,0.00:73.66,0.00:50.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.9,24.0:0,0:0,0:68,42:82,107:33,24:NM_001198834.2(PDE4DIP) c.2816-265C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144892914 . C . . NT END=144894082;NT GT ./. 1 144892951 rs61809690 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=19;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+68195C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+65023C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-362G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-362G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-362G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-362G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-362G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:103:58:0:0:78,25:2634,804:0.00,67.55:0.00,28.38:0.00,39.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.7,50.0:0,0:0,0:85,95:57,56:20,28:-,NM_001198834.2(PDE4DIP) c.2816-362G>A:-,NOT_FOUND:-,NOT_FOUND 1 144893960 . T A 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+69204T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+66032T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-1371A>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-1371A>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-1371A>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-1371A>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-1371A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:27:27:0:0:12,1,14:364,11,434:34.34,0.12,0.00:32.48,0.12,0.00:1.86,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.63,0.00,0.00:60,60,60:43.0,235.0,17.0:0,0,0:0,0,0:72,72,64:65,79,87:38,0,22:NM_001198834.2(PDE4DIP) c.2816-1371A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144894076 rs1778101 G T 123 nt VT=SNV;PN=G;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+69320G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+66148G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-1487C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-1487C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-1487C>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-1487C>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-1487C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:86:77:0:0:45,41:1378,1292:0.00,122.94:0.00,86.37:0.00,36.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,38.8:0,0:0,0:35,38:113,99:26,17:-,NM_001198834.2(PDE4DIP) c.2816-1487C>A:-,NOT_FOUND:-,NOT_FOUND 1 144894137 rs10630012 A ACT 114 PASS VT=INS;SST=Single;DP=120;DB;DBA=NA;PAF=NA;NP=86;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+69382_5357+69383dupCT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+66210_2583+66211dupCT;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-1550_2816-1549dupAG;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-1550_2816-1549dupAG;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-1550_3014-1549dupAG;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-1550_3305-1549dupAG;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-1550_2816-1549dupAG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACT:120:89:42:0:78,42:2459,1273:0.00,113.54:0.00,52.80:0.00,60.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,28.5:0,0:0,0:65,92:84,49:31,24:-,NM_001198834.2(PDE4DIP) c.2816-1549_2816-1548insAG:-,NOT_FOUND:-,NOT_FOUND 1 144894298 . T . . NT END=144903057;NT GT ./. 1 144894970 rs61809693 T C 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=5;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+70214T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+67042T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-2381A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-2381A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-2381A>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-2381A>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-2381A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:8,16:276,494:24.78,0.00:24.78,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:56,60:64.0,11.4:0,0:0,0:50,33:100,117:19,29:NM_001198834.2(PDE4DIP) c.2816-2381A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144895021 rs61809694 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+70265C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+67093C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-2432G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-2432G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-2432G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-2432G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-2432G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:33:31:0:0:27,6:869,189:0.00,14.97:0.00,15.32:0.00,-0.35:0.00,0.89:0.00,0.99:0.00,0.67:60,56:14.3,71.3:0,0:0,0:47,87:104,63:23,12:-,NM_001198834.2(PDE4DIP) c.2816-2432G>A:-,NOT_FOUND:-,NOT_FOUND 1 144895098 rs61809695 C A 15 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+70342C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+67170C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-2509G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-2509G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-2509G>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-2509G>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-2509G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C:62:47:0:0:6,56:206,1790:14.91,0.00:-1.70,0.00:16.61,0.00:0.82,0.00:0.96,0.00:0.89,0.00:40,60:73.0,11.2:0,0:0,0:64,65:85,82:4,37:NM_001198834.2(PDE4DIP) c.2816-2509G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144895101 rs61809696 C T 14 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=12;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+70345C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+67173C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-2512G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-2512G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-2512G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-2512G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-2512G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,T:64:49:0:0:58,6:1853,201:0.00,14.32:0.00,-1.71:0.00,16.04:0.00,0.81:0.00,0.96:0.00,0.89:60,40:10.9,73.0:0,0:0,0:62,67:80,82:37,4:-,NM_001198834.2(PDE4DIP) c.2816-2512G>A:-,NOT_FOUND:-,NOT_FOUND 1 144895460 rs1698703 C T 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+70704C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+67532C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2816-2871G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2816-2871G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.3014-2871G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3305-2871G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2816-2871G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,T:10:0:0:0:6,4:190,132:0.00,12.19:0.00,0.00:0.00,12.19:0.00,0.84:0.00,0.00:0.00,0.84:60,60:9.2,33.0:0,0:0,0:69,95:81,55:33,20:-,NM_001198834.2(PDE4DIP) c.2816-2871G>A:-,NOT_FOUND:-,NOT_FOUND 1 144903205 . C . . NT END=144904624;NT GT ./. 1 144904738 . C . . NT END=144906058;NT GT ./. 1 144905992 rs373352718 TA T 12 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=20;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+81250delA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+78078delA;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2574+66delT;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2574+66delT;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.2772+66delT;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.3063+66delT;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2574+66delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TA,I,T:27:27:3:6:19,3,5:622,93,182:0.00,6.89,12.02:0.00,7.01,7.53:0.00,-0.12,4.50:0.00,0.00,0.81:0.00,0.00,0.98:0.00,0.00,0.75:60,60,60:23.7,28.0,8.4:0,0,1:0,0,0:69,49,23:82,85,128:36,32,16:-,NM_001198834.2(PDE4DIP) c.2574+66delT:-,NOT_FOUND:-,NOT_FOUND 1 144906197 . C . . NT END=144906420;NT GT ./. 1 144906508 rs34169189 C T 87 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.9067,A/0.09325;PC=0.689;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+81752C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+78580C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2349G>A;ProtCh=p.M783I;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.2349G>A;ProtCh=p.M783I;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.2547G>A;ProtCh=p.M849I;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2838G>A;ProtCh=p.M946I;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2349G>A;ProtCh=p.M783I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:36:0:0:30,27:1012,912:0.00,86.96:0.00,40.22:0.00,46.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,34.5:0,0:0,0:78,94:70,54:31,20:-,NM_001198834.2(PDE4DIP) c.2349G>A (p.Met783Ile):-,0.09:-,0.111222 1 144906538 . C . . NT END=144909868;NT GT ./. 1 144909961 . C . . NT END=144911881;NT GT ./. 1 144910082 rs638780 A G 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.1168,T/0.8832;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+85326A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+82154A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2228-122T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.2228-122T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.2426-122T>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2717-122T>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2228-122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:29:0:0:0:7,22:222,652:0.00,68.70:0.00,0.00:0.00,68.70:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.7,46.0:0,0:0,0:108,112:43,38:11,17:-,NM_001198834.2(PDE4DIP) c.2228-122T>C:-,0.88:-,NOT_FOUND 1 144911964 . C . . NT END=144912129;NT GT ./. 1 144912153 rs1628172 A G 227 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.1162,T/0.8838;PC=0.025;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+87397A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+84225A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2122T>C;ProtCh=p.C708R;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.2122T>C;ProtCh=p.C708R;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.2320T>C;ProtCh=p.C774R;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2611T>C;ProtCh=p.C871R;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2122T>C;ProtCh=p.C708R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:69:0:0:22,71:746,2155:0.00,226.97:0.00,137.83:0.00,89.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,46.9:0,0:0,0:68,67:83,78:37,32:-,NM_001198834.2(PDE4DIP) c.2122T>C (p.Cys708Arg):-,0.87:-,0.826618 1 144912233 rs1629011 C T 158 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+87477C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+84305C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.2042G>A;ProtCh=p.R681H;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.2042G>A;ProtCh=p.R681H;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.2240G>A;ProtCh=p.R747H;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2531G>A;ProtCh=p.R844H;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.2042G>A;ProtCh=p.R681H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:62:0:0:54,52:1717,1649:0.00,157.80:0.00,63.99:0.00,93.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,52.0:0,0:0,0:78,55:65,94:47,31:-,NM_001198834.2(PDE4DIP) c.2042G>A (p.Arg681His):-,0.42:-,NOT_FOUND 1 144912295 . C . . NT END=144915444;NT GT ./. 1 144915412 rs1698684 T C 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+90656T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+87484T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1980+33A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1980+33A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.2178+33A>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2469+33A>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1980+33A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:95:86:0:0:22,73:727,2319:60.88,0.00:39.65,0.00:21.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,8.9:0,0:0,0:57,38:94,108:22,27:NM_001198834.2(PDE4DIP) c.1980+33A>G,-:0.38,-:0.269349,- 1 144915561 rs1778111 G A 224 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=165;DB;DBA=NA;PAF=NA;PC=0.480;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+90805G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+87633G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1864C>T;ProtCh=p.R622*;VC=Nonsense;Gene=PDE4DIP/NM_014644.5/1;CC=c.1864C>T;ProtCh=p.R622*;VC=Nonsense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.2062C>T;ProtCh=p.R688*;VC=Nonsense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2353C>T;ProtCh=p.R785*;VC=Nonsense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1864C>T;ProtCh=p.R622*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:165:107:0:0:73,91,1:2376,2896,13:223.60,0.00,-0.11:111.11,0.00,0.01:112.49,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:53.6,1.9,112.0:0,0,0:0,0,0:84,66,0:67,74,149:30,35,0:NM_001198834.2(PDE4DIP) c.1864C>T (p.Arg622*),-:0.5,-:NOT_FOUND,- 1 144915624 rs1778112 G A 201 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=136;DB;DBA=NA;PAF=C/0.5427,T/0.4573;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+90868G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+87696G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1801C>T;ProtCh=p.L601=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.1801C>T;ProtCh=p.L601=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1999C>T;ProtCh=p.L667=;VC=Silent;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2290C>T;ProtCh=p.L764=;VC=Silent;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1801C>T;ProtCh=p.L601=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:136:67:0:0:64,72:2109,2394:200.60,0.00:53.65,0.00:146.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.7,6.5:0,0:0,0:98,96:51,48:33,31:NM_001198834.2(PDE4DIP) c.1801C>T (p.(=)),-:0.37,-:NOT_FOUND,- 1 144915640 . C . . NT END=144916569;NT GT ./. 1 144916486 rs1699798 T G 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+91730T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+88558T>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1785+84A>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1785+84A>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1983+84A>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2274+84A>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1785+84A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:35:0:0:16,20:484,595:45.24,0.00:36.86,0.00:8.38,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:69.6,7.5:0,0:0,0:68,76:82,74:42,36:NM_001198834.2(PDE4DIP) c.1785+84A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144916493 rs1699799 A G 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.018;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+91737A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+88565A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1785+77T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1785+77T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1983+77T>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2274+77T>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1785+77T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:38:0:0:23,17:728,482:0.00,44.37:0.00,34.32:0.00,10.05:0.00,1.00:0.00,1.00:0.00,0.98:60,60:6.5,65.2:0,0:0,0:59,83:92,68:45,41:-,NM_001198834.2(PDE4DIP) c.1785+77T>C:-,NOT_FOUND:-,NOT_FOUND 1 144916676 rs1698683 C T 66 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+91920C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+88748C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1679G>A;ProtCh=p.W560*;VC=Nonsense;Gene=PDE4DIP/NM_014644.5/1;CC=c.1679G>A;ProtCh=p.W560*;VC=Nonsense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1877G>A;ProtCh=p.W626*;VC=Nonsense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2168G>A;ProtCh=p.W723*;VC=Nonsense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1679G>A;ProtCh=p.W560*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:65:0:0:75,25:2470,784:0.00,65.91:0.00,30.39:0.00,35.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,48.9:0,0:0,0:82,80:69,71:37,40:-,NM_001198834.2(PDE4DIP) c.1679G>A (p.Trp560*):-,0.27:-,0.321203 1 144916748 rs1747930 C G 108 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+91992C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+88820C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1607G>C;ProtCh=p.S536T;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.1607G>C;ProtCh=p.S536T;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1805G>C;ProtCh=p.S602T;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2096G>C;ProtCh=p.S699T;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1607G>C;ProtCh=p.S536T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:84:35:0:0:48,36:1543,1155:0.00,107.76:0.00,29.36:0.00,78.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,46.8:0,0:0,0:76,87:73,53:21,26:-,NM_001198834.2(PDE4DIP) c.1607G>C (p.Ser536Thr):-,0.5:-,NOT_FOUND 1 144916750 . C . . NT END=144917498;NT GT ./. 1 144916995 rs601274 A T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1176,T/0.8824;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+92239A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+89067A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1606-246T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1606-246T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1804-246T>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2095-246T>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1606-246T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,T:5:2:0:0:1,4:35,105:0.00,11.29:0.00,6.56:0.00,4.74:0.00,0.96:0.00,0.97:0.00,0.99:60,60:0.0,53.5:0,0:0,0:117,63:33,87:0,51:-,NM_001198834.2(PDE4DIP) c.1606-246T>A:-,0.87:-,NOT_FOUND 1 144917546 rs1698682 A G 199 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=NA;PC=0.986;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+92790A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+89618A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1558T>C;ProtCh=p.L520=;VC=Silent;Gene=PDE4DIP/NM_014644.5/1;CC=c.1558T>C;ProtCh=p.L520=;VC=Silent;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1756T>C;ProtCh=p.L586=;VC=Silent;Gene=PDE4DIP/NM_001002811.2/0;CC=c.2047T>C;ProtCh=p.L683=;VC=Silent;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1558T>C;ProtCh=p.L520=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:146:109:0:0:82,64:2638,2115:0.00,198.57:0.00,116.56:0.00,82.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,38.0:0,0:0,0:84,74:55,75:29,29:-,NM_001198834.2(PDE4DIP) c.1558T>C (p.(=)):-,0.5:-,NOT_FOUND 1 144917637 . C . . NT END=144917818;NT GT ./. 1 144917827 rs375854543 CA C 40 PASS VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2227;PC=0.997;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+93073delA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+89901delA;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1458delT;ProtCh=p.A487Lfs*6;VC=FrameShiftDel;Gene=PDE4DIP/NM_014644.5/1;CC=c.1458delT;ProtCh=p.A487Lfs*6;VC=FrameShiftDel;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1656delT;ProtCh=p.A553Lfs*6;VC=FrameShiftDel;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1947delT;ProtCh=p.A650Lfs*6;VC=FrameShiftDel;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1458delT;ProtCh=p.A487Lfs*6;VC=FrameShiftDel;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:77:53:0:15:62,15:2116,494:0.00,40.07:0.00,22.86:0.00,17.21:0.00,1.00:0.00,1.00:0.00,1.00:60,58:17.7,33.0:0,0:0,0:52,38:96,110:33,15:-,NM_001198834.2(PDE4DIP) c.1457T[1] (p.Ala487Leufs*6):-,0.25:-,0.36421 1 144917841 rs1698681 T C 116 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.997;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+93085T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+89913T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1445A>G;ProtCh=p.H482R;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.1445A>G;ProtCh=p.H482R;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1643A>G;ProtCh=p.H548R;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1934A>G;ProtCh=p.H645R;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1445A>G;ProtCh=p.H482R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:79:55:0:0:39,40:1212,1327:115.92,0.00:70.81,0.00:45.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,3.9:0,0:0,0:46,49:97,99:22,26:NM_001198834.2(PDE4DIP) c.1445A>G (p.His482Arg),-:0.5,-:NOT_FOUND,- 1 144917933 . C . . NT END=144918832;NT GT ./. 1 144918034 rs2655804 A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1761;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+93278A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+90106A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1354-102T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1354-102T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1552-102T>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1843-102T>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1354-102T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:22:0:0:0:19,3:538,100:0.00,7.63:0.00,0.00:0.00,7.63:0.00,0.48:0.00,0.00:0.00,0.48:60,60:10.5,60.0:0,0:0,0:83,120:67,29:35,30:-,NM_001198834.2(PDE4DIP) c.1354-102T>C:-,NOT_FOUND:-,NOT_FOUND 1 144918189 rs616826 A C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.931;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+93433A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+90261A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1354-257T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1354-257T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1552-257T>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1843-257T>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1354-257T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,C:5:0:0:0:3,2:98,71:0.00,6.59:0.00,0.00:0.00,6.59:0.00,0.46:0.00,0.00:0.00,0.46:60,60:0.0,35.5:0,0:0,0:106,107:43,44:12,24:-,NM_001198834.2(PDE4DIP) c.1354-257T>G:-,NOT_FOUND:-,NOT_FOUND 1 144918957 rs1061308 T A 187 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+94201T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+91029T>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1229A>T;ProtCh=p.E410V;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.1229A>T;ProtCh=p.E410V;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1427A>T;ProtCh=p.E476V;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1718A>T;ProtCh=p.E573V;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1229A>T;ProtCh=p.E410V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:128:65:0:0:63,65:1954,2062:186.83,0.00:83.95,0.00:102.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,2.5:0,0:0,0:79,92:68,57:37,40:NM_001198834.2(PDE4DIP) c.1229A>T (p.Glu410Val),-:0.5,-:NOT_FOUND,- 1 144918992 . C . . NT END=144921834;NT GT ./. 1 144919008 rs11296953 AC A 27 nt VT=DEL;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=2268;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+94254delC;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+91082delC;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1195-18delG;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1195-18delG;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1393-18delG;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1684-18delG;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1195-18delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:AC,C,A:96:45:0:11:84,1,11:2499,10,362:0.00,-0.27,26.67:0.00,-0.11,7.29:0.00,-0.16,19.38:0.00,0.00,0.99:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:18.9,33.0,37.5:0,0,0:0,0,0:92,32,86:50,119,46:28,0,18:-,NM_001198834.2(PDE4DIP) c.1195-18delG:-,0.24:-,0.360454 1 144919094 rs1698680 C T 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+94338C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+91166C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1195-103G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1195-103G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1393-103G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1684-103G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1195-103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:6:0:0:22,19:726,582:0.00,54.95:0.00,2.60:0.00,52.35:0.00,1.00:0.00,0.97:0.00,1.00:60,60:2.9,46.4:0,0:0,0:126,75:25,76:16,41:-,NM_001198834.2(PDE4DIP) c.1195-103G>A:-,NOT_FOUND:-,NOT_FOUND 1 144921538 rs1699802 C T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+96782C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+93610C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1194+297G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.1194+297G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1392+297G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1683+297G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1194+297G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:3:0:0:1,3:30,89:0.00,9.35:0.00,3.82:0.00,5.53:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,44.3:0,0:0,0:3,26:148,125:0,16:-,NM_001198834.2(PDE4DIP) c.1194+297G>A:-,NOT_FOUND:-,NOT_FOUND 1 144921929 . C T 99 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=176;PC=0.999;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+97173C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+94001C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.1100G>A;ProtCh=p.R367H;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.1100G>A;ProtCh=p.R367H;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1298G>A;ProtCh=p.R433H;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1589G>A;ProtCh=p.R530H;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.1100G>A;ProtCh=p.R367H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:176:123:0:0:1,137,38:14,4456,1202:-0.20,0.00,98.61:-0.19,0.00,45.25:-0.01,0.00,53.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:40.0,7.6,40.2:0,0,0:0,0,0:76,80,58:75,69,91:0,27,30:-,NM_001198834.2(PDE4DIP) c.1100G>A (p.Arg367His):-,NOT_FOUND:-,NOT_FOUND 1 144922048 . C . . NT END=144922186;NT GT ./. 1 144922109 rs1343469 A G 156 nt VT=SNV;PN=T;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+97353A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+94181A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.982-62T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.982-62T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1180-62T>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1471-62T>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.982-62T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:45:0:0:40,48:1174,1589:0.00,155.54:0.00,67.68:0.00,87.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,55.4:0,0:0,0:83,87:66,61:43,34:-,NM_001198834.2(PDE4DIP) c.982-62T>C:-,NOT_FOUND:-,NOT_FOUND 1 144922171 rs1343470 C T 143 nt VT=SNV;PN=A;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+97415C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+94243C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.981+16G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.981+16G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1179+16G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1470+16G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.981+16G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:47:0:0:44,45:1350,1486:0.00,143.34:0.00,50.26:0.00,93.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,59.7:0,0:0,0:67,65:78,86:35,32:-,NM_001198834.2(PDE4DIP) c.981+16G>A:-,0.5:-,NOT_FOUND 1 144922280 . C . . NT END=144922518;NT GT ./. 1 144922523 rs2455994 C T 65 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=NA;PC=0.480;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+97767C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+94595C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.884G>A;ProtCh=p.R295H;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.884G>A;ProtCh=p.R295H;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1082G>A;ProtCh=p.R361H;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1373G>A;ProtCh=p.R458H;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.884G>A;ProtCh=p.R295H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:98:0:0:103,25:3304,809:0.00,65.43:0.00,41.37:0.00,24.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,59.2:0,0:0,0:69,66:71,77:29,30:-,NM_001198834.2(PDE4DIP) c.884G>A (p.Arg295His):-,0.26:-,0.342947 1 144922583 rs1359300 G A 161 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=NA;PC=0.997;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+97827G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+94655G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.824C>T;ProtCh=p.S275L;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.824C>T;ProtCh=p.S275L;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.1022C>T;ProtCh=p.S341L;VC=Missense;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1313C>T;ProtCh=p.S438L;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.824C>T;ProtCh=p.S275L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:113:72:0:0:53,60:1697,1896:161.14,0.00:65.43,0.00:95.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,2.8:0,0:0,0:96,82:44,68:29,37:NM_001198834.2(PDE4DIP) c.824C>T (p.Ser275Leu),-:0.5,-:NOT_FOUND,- 1 144922639 . C . . NT END=144923689;NT GT ./. 1 144922861 rs1698650 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+98105C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+94933C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.769-223G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.769-223G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.967-223G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1258-223G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.769-223G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:13:0:0:0:8,5:246,166:0.00,15.22:0.00,0.00:0.00,15.22:0.00,0.91:0.00,0.00:0.00,0.91:60,60:11.0,52.2:0,0:0,0:104,126:46,19:34,16:-,NM_001198834.2(PDE4DIP) c.769-223G>A:-,NOT_FOUND:-,NOT_FOUND 1 144923503 rs1778126 C T 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+98747C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+95575C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.768+187G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.768+187G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.966+187G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1257+187G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.768+187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:12,9:379,295:0.00,27.57:0.00,27.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.3,64.1:0,0:0,0:67,27:83,122:28,14:-,NM_001198834.2(PDE4DIP) c.768+187G>A:-,NOT_FOUND:-,NOT_FOUND 1 144923535 rs1778127 A G 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+98779A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+95607A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.768+155T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.768+155T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.966+155T>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1257+155T>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.768+155T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:27:0:0:15,12:480,348:0.00,32.43:0.00,32.43:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.1,56.3:0,0:0,0:73,51:76,99:46,19:-,NM_001198834.2(PDE4DIP) c.768+155T>C:-,NOT_FOUND:-,NOT_FOUND 1 144923822 . C . . NT END=144930583;NT GT ./. 1 144923823 rs142552837 TAGGAAGAAACGGCA T 88 nt VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=2908;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+99083_5357+99096delGGAAGAAACGGCAA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+95911_2583+95924delGGAAGAAACGGCAA;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-16_637-3delTGCCGTTTCTTCCT;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-16_637-3delTGCCGTTTCTTCCT;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-16_835-3delTGCCGTTTCTTCCT;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1126-16_1126-3delTGCCGTTTCTTCCT;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-16_637-3delTGCCGTTTCTTCCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAGGAAGAAACGGCA,T:77:26:0:32:45,32:1412,957:0.00,88.14:0.00,15.93:0.00,72.21:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.3,7.5:0,0:0,0:127,81:16,68:17,19:-,NM_001198834.2(PDE4DIP) c.637-16_637-3delTGCCGTTTCTTCCT:-,NOT_FOUND:-,NOT_FOUND 1 144930223 rs1747936 T C 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105467T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102295T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6402A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6402A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6402A>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1125+361A>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6402A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:5:0:0:2,3:69,77:6.40,0.00:6.40,0.00:0.00,0.00:0.46,0.00:0.46,0.00:0.00,0.00:60,60:64.5,43.7:0,0:0,0:18,65:132,85:11,15:NM_001198834.2(PDE4DIP) c.637-6402A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144930322 rs1747937 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.502,A/0.498;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105566C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102394C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6501G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6501G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6501G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1125+262G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6501G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:11:11:0:0:5,6:161,160:0.00,15.56:0.00,15.56:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:26.8,103.5:0,0:0,0:49,39:102,111:43,29:-,NM_001198834.2(PDE4DIP) c.637-6501G>A:-,NOT_FOUND:-,NOT_FOUND 1 144930351 rs2312022 A G 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105595A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102423A>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6530T>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6530T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6530T>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1125+233T>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6530T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:15:15:0:0:11,4:359,136:0.00,11.73:0.00,11.73:0.00,0.00:0.00,0.76:0.00,0.76:0.00,0.00:60,60:30.5,131.8:0,0:0,0:35,40:114,111:26,17:-,NM_001198834.2(PDE4DIP) c.637-6530T>C:-,NOT_FOUND:-,NOT_FOUND 1 144930369 rs1778086 T C 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105613T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102441T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6548A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6548A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6548A>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1125+215A>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6548A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:16:0:0:7,9:220,200:20.63,0.00:20.63,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:104.1,25.9:0,0:0,0:56,45:95,106:30,18:NM_001198834.2(PDE4DIP) c.637-6548A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144930405 . TTATC T 29 nt VT=DEL;SST=Single;DP=20;NP=712;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105651_5357+105654delATCT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102479_2583+102482delATCT;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6588_637-6585delGATA;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6588_637-6585delGATA;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6588_835-6585delGATA;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1125+175_1125+178delGATA;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6588_637-6585delGATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTATC,T:20:20:0:10:10,10:275,299:0.00,28.69:0.00,28.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.1,74.9:0,0:0,0:72,52:77,99:19,29:-,NM_001198834.2(PDE4DIP) c.637-6588_637-6585delGATA:-,NOT_FOUND:-,NOT_FOUND 1 144930441 rs2261219 G T 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105685G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102513G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6620C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6620C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6620C>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1125+143C>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6620C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:31:31:0:0:16,15:507,436:0.00,41.40:0.00,41.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.9,69.2:0,0:0,0:37,58:112,92:36,36:-,NM_001198834.2(PDE4DIP) c.637-6620C>A:-,NOT_FOUND:-,NOT_FOUND 1 144930571 rs2762866 C A 175 nt VT=SNV;PN=G;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105815C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102643C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6750G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6750G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6750G>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1125+13G>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6750G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:119:103:0:0:58,60,1:1833,2028,9:175.35,0.00,-0.15:123.93,0.00,-0.09:51.42,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.6,5.3,168.0:0,0,0:0,0,0:56,57,70:94,91,80:31,35,0:NM_001198834.2(PDE4DIP) c.637-6750G>T,-:0.5,-:NOT_FOUND,- 1 144930596 rs2762867 C A 222 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=NA;PC=0.069;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+105840C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+102668C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-6775G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-6775G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-6775G>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.1113G>T;ProtCh=p.P371=;VC=Silent;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-6775G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:146:124:0:0:74,72:2308,2355:222.00,0.00:145.45,0.00:76.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.5,8.1:0,0:0,0:59,56:89,81:27,31:NM_001198834.2(PDE4DIP) c.637-6775G>T,-:0.5,-:NOT_FOUND,- 1 144930940 rs2147326 T C 360 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=242;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+106184T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103012T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-7119A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-7119A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-7119A>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.769A>G;ProtCh=p.K257E;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-7119A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:242:177:0:0:117,2,123:3761,32,3913:359.63,0.33,0.00:224.00,0.51,0.00:135.63,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.0,76.0,6.3:0,0,0:0,0,0:83,82,67:63,60,81:36,45,37:NM_001198834.2(PDE4DIP) c.637-7119A>G,-:0.5,-:NOT_FOUND,- 1 144931087 rs41315684 T C 222 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=304;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+106331T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103159T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-7266A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-7266A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-7266A>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.622A>G;ProtCh=p.T208A;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-7266A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:304:189:0:0:1,81,222:11,2597,7070:-0.25,221.98,0.00:-0.14,112.38,0.00:-0.11,109.60,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:71.0,39.9,10.1:0,0,0:0,0,0:118,78,71:32,64,76:0,33,35:NM_001198834.2(PDE4DIP) c.637-7266A>G,-:0.16,-:0.198754,- 1 144931330 rs2762745 C T 370 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=261;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+106574C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103402C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-7509G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-7509G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-7509G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.379G>A;ProtCh=p.A127T;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-7509G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:261:162:0:0:135,126:4464,3887:0.00,370.15:0.00,185.89:0.00,184.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,60.6:0,0:0,0:80,77:67,68:40,38:-,NM_001198834.2(PDE4DIP) c.637-7509G>A:-,0.5:-,NOT_FOUND 1 144931392 rs2798893 G A 351 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=251;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+106636G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103464G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-7571C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-7571C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-7571C>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.317C>T;ProtCh=p.A106V;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-7571C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:251:157:0:0:120,1,128,2:3690,10,4033,22:351.47,-0.18,0.00,-0.24:172.06,-0.11,0.00,-0.00:179.41,-0.07,0.00,-0.23:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:65.2,57.0,9.8,172.0:0,0,0,0:0,0,0,0:79,142,80,52:70,9,69,95:34,0,39,14:NM_001198834.2(PDE4DIP) c.637-7571C>T,-:0.5,-:NOT_FOUND,- 1 144931461 rs41315685 A T 144 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=245;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+106705A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103533A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-7640T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-7640T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-7640T>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.248T>A;ProtCh=p.L83Q;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-7640T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:245:173:0:0:187,1,57:5963,10,1740:0.00,-0.28,143.67:0.00,-0.14,75.49:0.00,-0.14,68.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.5,46.0,56.7:0,0,0:0,0,0:64,37,71:83,114,78:33,0,36:-,NM_001198834.2(PDE4DIP) c.637-7640T>A:-,0.2:-,0.20406 1 144931727 rs2985363 G A 194 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=283;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+106971G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103799G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-7906C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-7906C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-7906C>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-19C>T;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-7906C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:283:164:0:0:76,207:2290,6771:193.80,0.00:70.45,0.00:123.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,8.4:0,0:0,0:88,76:55,66:33,36:NM_001198834.2(PDE4DIP) c.637-7906C>T,-:0.28,-:0.358652,- 1 144931870 rs3795672 C T 186 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=205;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107114C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103942C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8049G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8049G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8049G>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-162G>A;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8049G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:205:130:0:0:1,134,1,69:9,4290,9,2095:-0.25,0.00,-0.25,185.89:-0.13,0.00,-0.08,92.84:-0.13,0.00,-0.17,93.05:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:151.0,22.5,40.0,39.4:0,0,0,0:0,0,0,0:49,85,88,75:102,58,63,70:0,42,0,32:-,NM_001198834.2(PDE4DIP) c.637-8049G>A:-,0.19:-,NOT_FOUND 1 144931873 rs1324350 C G 81 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=203;DB;DBA=NA;PAF=NA;PC=0.028;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107117C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+103945C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8052G>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8052G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8052G>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-165G>C;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8052G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:203:130:0:0:1,166,36:11,4961,1046:-0.29,0.00,80.80:-0.10,0.00,33.27:-0.19,0.00,47.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:167.0,22.7,49.6:0,0,0:0,0,0:100,83,69:41,60,73:0,39,33:-,NM_001198834.2(PDE4DIP) c.637-8052G>C:-,0.1:-,NOT_FOUND 1 144932086 rs1324349 G C 474 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=327;DB;DBA=NA;PAF=C/0.4876,G/0.5124;PC=0.988;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107330G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104158G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8265C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8265C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8265C>G;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-378C>G;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8265C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:327:230:0:0:2,160,165:20,4953,5198:-0.30,473.66,0.00:-0.18,260.91,0.00:-0.13,212.74,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:155.0,51.8,8.9:0,0,0:0,0,0:100,77,74:49,64,72:43,32,37:NM_001198834.2(PDE4DIP) c.637-8265C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144932151 rs1324348 G T 240 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=319;DB;DBA=NA;PAF=NA;PC=0.669;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107395G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104223G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8330C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8330C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8330C>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-443C>A;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8330C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:319:211:0:0:236,83:7106,2799:0.00,240.19:0.00,129.80:0.00,110.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.4,58.9:0,0:0,0:64,82:81,64:37,40:-,NM_001198834.2(PDE4DIP) c.637-8330C>A:-,0.23:-,NOT_FOUND 1 144932196 rs33943525 TTCCGGCTCTGC T 126 PASS VT=DEL;SST=Single;DP=332;DB;DBA=NA;PAF=NA;NP=288;PC=0.989;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107441_5357+107451delTCCGGCTCTGC;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104269_2583+104279delTCCGGCTCTGC;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8386_637-8376delGCAGAGCCGGA;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8386_637-8376delGCAGAGCCGGA;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8386_835-8376delGCAGAGCCGGA;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-499_-489delGCAGAGCCGGA;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8386_637-8376delGCAGAGCCGGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTCCGGCTCTGC,T:332:214:0:53:279,53:9124,1642:0.00,126.23:0.00,65.47:0.00,60.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,38.7:0,0:0,0:70,59:73,89:38,22:-,NM_001198834.2(PDE4DIP) c.637-8386_637-8376delGCAGAGCCGGA:-,NOT_FOUND:-,NOT_FOUND 1 144932208 rs114639292 G A 137 idl VT=SNV;PN=C;NN=C;SST=Single;DP=324;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107452G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104280G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8387C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8387C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8387C>T;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-500C>T;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8387C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:324:209:0:0:55,269:1749,8639:137.11,0.00:63.34,0.00:73.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,15.6:55,0:0,0:60,65:87,83:19,37:NM_001198834.2(PDE4DIP) c.637-8387C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144932220 rs2798892 G T 147 idl VT=SNV;PN=A;NN=C;SST=Single;DP=329;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107464G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104292G>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8399C>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8399C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8399C>A;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-512C>A;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8399C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:329:209:0:0:270,59:8946,1859:0.00,146.95:0.00,58.17:0.00,88.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.3,39.8:0,51:0,0:72,66:74,83:33,25:-,NM_001198834.2(PDE4DIP) c.637-8399C>A:-,0.16:-,NOT_FOUND 1 144932342 rs1951919 T G 491 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=321;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107586T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104414T>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8521A>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8521A>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8521A>C;VC=Intron;Gene=PDE4DIP/NM_001002811.2/0;CC=c.-634A>C;VC=5UTR;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8521A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:321:193:0:0:3,162,156:32,5099,4796:-0.29,491.26,0.00:-0.19,231.81,0.00:-0.10,259.44,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:84.3,76.8,11.3:0,0,0:0,0,0:16,79,76:135,69,71:11,40,35:NM_001198834.2(PDE4DIP) c.637-8521A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 144932401 rs1002928 G C 153 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=291;DB;DBA=NA;PAF=NA;PC=0.840;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107645G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104473G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8580C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8580C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8580C>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8580C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:291:182:0:0:1,64,225,1:12,1890,6868,10:-0.24,153.29,0.00,-0.26:-0.14,68.26,0.00,-0.14:-0.10,85.03,0.00,-0.12:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:73.0,109.2,33.6,200.0:0,0,0,0:0,0,0,0:42,78,69,126:109,64,76,25:0,39,37,0:NM_001198834.2(PDE4DIP) c.637-8580C>G,-:0.32,-:NOT_FOUND,- 1 144932414 rs1570667 A C 373 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=277;DB;DBA=NA;PAF=T/0.5032,G/0.4968;PC=0.540;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107658A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104486A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8593T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8593T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8593T>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8593T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:277:164:0:0:149,126,1,1:4617,3960,11,11:0.00,373.48,-0.20,-0.20:0.00,166.42,-0.06,-0.06:0.00,207.06,-0.15,-0.15:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:12.1,102.1,90.0,96.0:0,0,0,0:0,0,0,0:82,77,131,6:62,69,20,145:36,32,0,0:-,NM_001198834.2(PDE4DIP) c.637-8593T>G:-,NOT_FOUND:-,NOT_FOUND 1 144932415 rs1570666 C G 380 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=278;DB;DBA=NA;PAF=G/0.5032,C/0.4968;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+107659C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+104487C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.637-8594G>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.637-8594G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.835-8594G>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.637-8594G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:278:166:0:0:149,129:4608,4018:0.00,380.10:0.00,153.40:0.00,226.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,99.0:0,0:0,0:83,74:62,74:36,36:-,NM_001198834.2(PDE4DIP) c.637-8594G>C:-,NOT_FOUND:-,NOT_FOUND 1 144932553 . A . . NT END=144946624;NT GT ./. 1 144946403 rs2798888 T C 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+121647T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+118475T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.636+222A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.636+222A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.834+222A>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.636+222A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:12:12:0:0:8,4:267,107:27.20,0.00:27.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.8,24.2:0,0:0,0:58,33:92,117:25,24:NM_001198834.2(PDE4DIP) c.636+222A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144946510 rs2488977 C T 107 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.1749,G/0.8251;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+121754C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+118582C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.636+115G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.636+115G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.834+115G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.636+115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:29:0:0:29:933:107.10:105.21:1.89:1.00:1.00:1.00:60:50.0:0:0:36:112:23:NM_001198834.2(PDE4DIP) c.636+115G>A,NM_001198834.2(PDE4DIP) c.636+115G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 144946743 . C . . NT END=144951950;NT GT ./. 1 144946768 rs2762733 G A 119 nt VT=SNV;PN=A;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+122012G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+118840G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.519-26C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.519-26C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.717-26C>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.519-26C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:22:0:0:37,30:1210,990:118.62,0.00:23.54,0.00:95.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.7,13.0:0,0:0,0:103,110:47,40:24,20:NM_001198834.2(PDE4DIP) c.519-26C>T,-:0.5,-:NOT_FOUND,- 1 144946876 rs2798887 C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+122120C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+118948C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.519-134G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.519-134G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.717-134G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.519-134G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,T:11:0:0:0:4,7:123,229:0.00,23.11:0.00,0.00:0.00,23.11:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.2,131.3:0,0:0,0:66,110:84,41:48,24:-,NM_001198834.2(PDE4DIP) c.519-134G>A:-,NOT_FOUND:-,NOT_FOUND 1 144946883 rs2762732 G C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+122127G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+118955G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.519-141C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.519-141C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.717-141C>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.519-141C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,G:9:0:0:0:6,3:205,103:20.87,0.00:0.00,0.00:20.87,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:142.2,12.3:0,0:0,0:116,41:35,110:17,31:NM_001198834.2(PDE4DIP) c.519-141C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144946893 rs2798886 C G 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+122137C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+118965C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.519-151G>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.519-151G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.717-151G>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.519-151G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:8:0:0:0:3,5:70,175:0.00,17.61:0.00,0.00:0.00,17.61:0.00,0.97:0.00,0.00:0.00,0.97:60,60:12.3,158.6:0,0:0,0:51,117:100,34:31,10:-,NM_001198834.2(PDE4DIP) c.519-151G>C:-,NOT_FOUND:-,NOT_FOUND 1 144946908 rs4491020 C T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+122152C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+118980C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.519-166G>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.519-166G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.717-166G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.519-166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,T:8:0:0:0:3,5:91,149:0.00,14.98:0.00,0.00:0.00,14.98:0.00,0.97:0.00,0.00:0.00,0.97:60,60:12.3,158.6:0,0:0,0:66,132:85,19:31,10:-,NM_001198834.2(PDE4DIP) c.519-166G>A:-,NOT_FOUND:-,NOT_FOUND 1 144946958 rs4439318 G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+122202G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+119030G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.519-216C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.519-216C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.717-216C>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.519-216C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:6:0:0:0:4,2:71,69:7.26,0.00:0.00,0.00:7.26,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:135.2,6.0:0,0:0,0:61,100:89,50:12,15:NM_001198834.2(PDE4DIP) c.519-216C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144946979 rs2798885 A C 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+122223A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+119051A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.519-237T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.519-237T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.717-237T>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.519-237T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,C:6:0:0:0:2,4:65,118:0.00,12.04:0.00,0.00:0.00,12.04:0.00,0.93:0.00,0.00:0.00,0.93:60,60:6.0,135.2:0,0:0,0:121,82:29,68:15,12:-,NM_001198834.2(PDE4DIP) c.519-237T>G:-,NOT_FOUND:-,NOT_FOUND 1 144951880 rs141695068 A T 68 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=739;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127124A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+123952A>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.518+321T>A;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.518+321T>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.716+321T>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.518+321T>A;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.*317T>A;VC=3UTR;Gene=PDE4DIP/NM_001195261.1/0;CC=c.*317T>A;VC=3UTR;Gene=PDE4DIP/NM_001195260.1/0;CC=c.*317T>A;VC=3UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.*317T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:61:59:0:0:36,1,24:1094,11,736:0.00,-0.06,67.51:0.00,-0.04,68.27:0.00,-0.02,-0.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.91:43,40,33:23.7,75.0,63.0:0,0,0:0,0,0:36,34,38:115,117,113:22,0,33:-,NM_001198834.2(PDE4DIP) c.518+321T>A:-,NOT_FOUND:-,NOT_FOUND 1 144951959 rs142985095 T C 68 lc VT=SNV;PN=C;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=1364;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127203T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124031T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.518+242A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.518+242A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.716+242A>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.518+242A>G;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.*238A>G;VC=3UTR;Gene=PDE4DIP/NM_001195261.1/0;CC=c.*238A>G;VC=3UTR;Gene=PDE4DIP/NM_001195260.1/0;CC=c.*238A>G;VC=3UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.*238A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:154:136:0:0:29,125:861,4060:67.63,0.00:46.76,0.00:20.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,55:76.0,34.0:0,0:0,0:47,48:103,99:25,32:NM_001198834.2(PDE4DIP) c.518+242A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144951973 rs77471170 T C 385 lc VT=SNV;PN=C;NN=A;SST=Single;DP=180;DB;DBA=NA;PAF=NA;NP=3261;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127217T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124045T>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.518+228A>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.518+228A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.716+228A>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.518+228A>G;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.*224A>G;VC=3UTR;Gene=PDE4DIP/NM_001195261.1/0;CC=c.*224A>G;VC=3UTR;Gene=PDE4DIP/NM_001195260.1/0;CC=c.*224A>G;VC=3UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.*224A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:180:158:0:0:1,118,1,60:10,3786,5,2021:-0.09,385.40,-0.14,0.00:-0.13,278.99,-0.11,0.00:0.03,106.41,-0.03,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,54,15,52:173.0,56.8,183.0,5.3:0,0,0,0:0,0,0,0:16,42,90,54:135,107,61,97:0,22,0,38:NM_001198834.2(PDE4DIP) c.518+228A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144952078 rs71220421 C A 213 lc VT=SNV;PN=G;NN=C;SST=Single;DP=276;DB;DBA=NA;PAF=NA;NP=3380;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127322C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124150C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.518+123G>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.518+123G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.716+123G>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.518+123G>T;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.*119G>T;VC=3UTR;Gene=PDE4DIP/NM_001195261.1/0;CC=c.*119G>T;VC=3UTR;Gene=PDE4DIP/NM_001195260.1/0;CC=c.*119G>T;VC=3UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.*119G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:276:213:0:0:81,193,1,1:2464,6072,10,10:212.85,0.00,-0.29,-0.29:137.13,0.00,-0.17,-0.21:75.72,0.00,-0.13,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:53,55,21,51:51.7,14.2,247.0,173.0:0,0,0,0:0,0,0,0:85,78,14,121:63,71,137,30:37,36,0,0:NM_001198834.2(PDE4DIP) c.518+123G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144952207 rs3121544 C T 127 lc VT=SNV;PN=C;NN=T;SST=Single;DP=338;DB;DBA=NA;PAF=NA;PC=0.959;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127451C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124279C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.512G>A;ProtCh=p.R171K;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.512G>A;ProtCh=p.R171K;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.710G>A;ProtCh=p.R237K;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.512G>A;ProtCh=p.R171K;VC=Missense;Gene=PDE4DIP/NM_001002810.3/0;CC=c.512G>A;ProtCh=p.R171K;VC=Missense;Gene=PDE4DIP/NM_001195261.1/0;CC=c.521G>A;ProtCh=p.R174K;VC=Missense;Gene=PDE4DIP/NM_001195260.1/0;CC=c.416G>A;ProtCh=p.R139K;VC=Missense;Gene=PDE4DIP/NM_022359.5/0;CC=c.923G>A;ProtCh=p.R308K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:338:237:0:0:290,48:9594,1641:0.00,127.06:0.00,83.87:0.00,43.19:0.00,1.00:0.00,1.00:0.00,1.00:45,45:13.5,68.1:0,0:0,0:74,83:75,65:31,31:-,NM_001198834.2(PDE4DIP) c.512G>A (p.Arg171Lys):-,NOT_FOUND:-,NOT_FOUND 1 144952220 rs2590120 C T 292 lc VT=SNV;PN=G;NN=C;SST=Single;DP=321;DB;DBA=NA;PAF=NA;NP=3480;PC=0.404;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127464C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124292C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.499G>A;ProtCh=p.A167T;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.499G>A;ProtCh=p.A167T;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.697G>A;ProtCh=p.A233T;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.499G>A;ProtCh=p.A167T;VC=Missense;Gene=PDE4DIP/NM_001002810.3/0;CC=c.499G>A;ProtCh=p.A167T;VC=Missense;Gene=PDE4DIP/NM_001195261.1/0;CC=c.508G>A;ProtCh=p.A170T;VC=Missense;Gene=PDE4DIP/NM_001195260.1/0;CC=c.403G>A;ProtCh=p.A135T;VC=Missense;Gene=PDE4DIP/NM_022359.5/0;CC=c.910G>A;ProtCh=p.A304T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:321:212:0:0:1,215,105:10,7084,3294:-0.25,0.00,291.55:-0.09,0.00,133.31:-0.16,0.00,158.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,45,44:20.0,4.8,50.3:0,0,0:0,0,0:52,91,74:99,57,76:0,26,35:-,NM_001198834.2(PDE4DIP) c.499G>A (p.Ala167Thr):-,NOT_FOUND:-,NOT_FOUND 1 144952377 . C . . NT END=144952565;NT GT ./. 1 144952513 rs149953064 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=110;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127757G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124585G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.342+53C>T;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.342+53C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.540+53C>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.342+53C>T;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.342+53C>T;VC=Intron;Gene=PDE4DIP/NM_001195261.1/0;CC=c.351+53C>T;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.246+53C>T;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.753+53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:21:2:0:0:6,15:147,467:12.09,0.00:2.99,0.00:9.11,0.00:0.93,0.00:0.57,0.00:0.99,0.00:40,40:69.7,30.5:0,0:0,0:102,91:47,50:31,46:NM_001198834.2(PDE4DIP) c.342+53C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144952538 rs145008827 C G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=54;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127782C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124610C>G;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.342+28G>C;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.342+28G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.540+28G>C;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.342+28G>C;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.342+28G>C;VC=Intron;Gene=PDE4DIP/NM_001195261.1/0;CC=c.351+28G>C;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.246+28G>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.753+28G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G:15:1:0:0:11,4:306,109:0.00,9.04:0.00,3.10:0.00,5.94:0.00,0.76:0.00,0.51:0.00,0.97:40,40:29.5,85.8:0,0:0,0:66,80:85,70:41,37:-,NM_001198834.2(PDE4DIP) c.342+28G>C:-,NOT_FOUND:-,NOT_FOUND 1 144952581 rs149078147 G C 6 lc VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=47;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+127825G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+124653G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.327C>G;ProtCh=p.I109M;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.327C>G;ProtCh=p.I109M;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.525C>G;ProtCh=p.I175M;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.327C>G;ProtCh=p.I109M;VC=Missense;Gene=PDE4DIP/NM_001002810.3/0;CC=c.327C>G;ProtCh=p.I109M;VC=Missense;Gene=PDE4DIP/NM_001195261.1/0;CC=c.336C>G;ProtCh=p.I112M;VC=Missense;Gene=PDE4DIP/NM_001195260.1/0;CC=c.231C>G;ProtCh=p.I77M;VC=Missense;Gene=PDE4DIP/NM_022359.5/0;CC=c.738C>G;ProtCh=p.I246M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,G:14:2:0:0:3,11:82,347:6.48,0.00:3.30,0.00:3.18,0.00:0.56,0.00:0.49,0.00:0.90,0.00:27,40:81.7,27.5:0,0:0,0:82,68:67,83:7,33:NM_001198834.2(PDE4DIP) c.327C>G (p.Ile109Met),-:NOT_FOUND,-:NOT_FOUND,- 1 144952690 . C . . NT END=144955215;NT GT ./. 1 144955293 . C . . NT END=144994590;NT GT ./. 1 144991423 rs4649498 G C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=19;PC=0.019;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+166667G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+163495G>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.141+3168C>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.141+3168C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.339+3168C>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.141+3168C>G;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.141+3168C>G;VC=Intron;Gene=PDE4DIP/NM_001195261.1/0;CC=c.150+3168C>G;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.45+3168C>G;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.552+3168C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,G:13:9:0:1:3,10:95,285:7.89,0.00:5.26,0.00:2.63,0.00:0.58,0.00:0.87,0.00:0.81,0.00:60,60:72.3,21.9:0,0:0,0:137,57:7,62:7,16:NM_001198834.2(PDE4DIP) c.141+3168C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 144994346 rs1664021 A C 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+169590A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+166418A>C;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.141+245T>G;VC=Intron;Gene=PDE4DIP/NM_014644.5/1;CC=c.141+245T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.339+245T>G;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.141+245T>G;VC=Intron;Gene=PDE4DIP/NM_001002810.3/0;CC=c.141+245T>G;VC=Intron;Gene=PDE4DIP/NM_001195261.1/0;CC=c.150+245T>G;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.45+245T>G;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.552+245T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:30:0:0:20,11:579,371:0.00,33.61:0.00,33.80:0.00,-0.19:0.00,1.00:0.00,1.00:0.00,0.57:60,60:15.0,39.9:0,0:0,0:47,40:97,108:28,32:-,NM_001198834.2(PDE4DIP) c.141+245T>G:-,NOT_FOUND:-,NOT_FOUND 1 144994658 rs1664022 C A 525 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=449;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+169902C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+166730C>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.74G>T;ProtCh=p.R25L;VC=Missense;Gene=PDE4DIP/NM_014644.5/1;CC=c.74G>T;ProtCh=p.R25L;VC=Missense;Gene=PDE4DIP/NM_001198832.2/0;CC=c.272G>T;ProtCh=p.R91L;VC=Missense;Gene=PDE4DIP/NM_001002812.2/0;CC=c.74G>T;ProtCh=p.R25L;VC=Missense;Gene=PDE4DIP/NM_001002810.3/0;CC=c.74G>T;ProtCh=p.R25L;VC=Missense;Gene=PDE4DIP/NM_001195261.1/0;CC=c.83G>T;ProtCh=p.R28L;VC=Missense;Gene=PDE4DIP/NM_001195260.1/0;CC=c.-23G>T;VC=5UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.485G>T;ProtCh=p.R162L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:449:322:0:0:177,268,3,1:5705,8441,30,11:525.16,0.00,-0.59,-0.20:322.89,0.00,-0.21,-0.13:202.28,0.00,-0.38,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:40.0,9.8,64.7,92.0:0,0,0,0:0,0,0,0:68,72,116,132:82,74,35,19:37,38,14,0:NM_001198834.2(PDE4DIP) c.74G>T (p.Arg25Leu),-:0.5,-:NOT_FOUND,- 1 144994861 rs2442640 C T 1400 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=472;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+170105C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+166933C>T;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.-130G>A;VC=5UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.-130G>A;VC=5UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.229-160G>A;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.-130G>A;VC=5UTR;Gene=PDE4DIP/NM_001002810.3/0;CC=c.-130G>A;VC=5UTR;Gene=PDE4DIP/NM_001195261.1/0;CC=c.39+95G>A;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.-66-160G>A;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.442-160G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:472:308:0:0:73,1,398:2313,14,12988:0.00,-0.01,1400.19:0.00,0.03,682.91:0.00,-0.03,717.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.4,52.0,45.2:0,0,0:0,0,0:83,148,71:64,3,72:36,0,38:-,NM_001198834.2(PDE4DIP) c.-130G>A:-,NOT_FOUND:-,NOT_FOUND 1 144994902 rs4649499 G A 139 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=441;DB;DBA=NA;PAF=NA;PC=0.371;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+170146G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+166974G>A;VC=Intron;Gene=PDE4DIP/NM_001198834.3/0;CC=c.-171C>T;VC=5UTR;Gene=PDE4DIP/NM_014644.5/1;CC=c.-171C>T;VC=5UTR;Gene=PDE4DIP/NM_001198832.2/0;CC=c.229-201C>T;VC=Intron;Gene=PDE4DIP/NM_001002812.2/0;CC=c.-171C>T;VC=5UTR;Gene=PDE4DIP/NM_001002810.3/0;CC=c.-171C>T;VC=5UTR;Gene=PDE4DIP/NM_001195261.1/0;CC=c.39+54C>T;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.-66-201C>T;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.442-201C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:441:287:0:0:58,2,380,1:1856,20,11569,12:139.14,-0.71,0.00,-0.29:69.18,-0.29,0.00,-0.12:69.96,-0.42,0.00,-0.17:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:64.1,173.5,29.0,139.0:0,0,0,0:0,0,0,0:65,77,72,120:85,73,77,29:32,60,34,0:NM_001198834.2(PDE4DIP) c.-171C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 144995083 . A . . NT END=145015859;NT GT ./. 1 144995277 rs372653150 AG A 16 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=476;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+170523delG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+167351delG;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.229-577delC;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.-66-577delC;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.442-577delC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:AG,A:46:0:0:7:39,7:1292,216:0.00,16.43:0.00,0.00:0.00,16.43:0.00,0.93:0.00,0.00:0.00,0.93:60,60:25.3,51.6:0,0:0,0:108,108:43,32:31,16:-,NM_001198834.2(PDE4DIP) c.-302-u245delC:-,0.21:-,NOT_FOUND 1 144995309 rs1778602 C T 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.039;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+170553C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+167381C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.229-608G>A;VC=Intron;Gene=PDE4DIP/NM_001195260.1/0;CC=c.-66-608G>A;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.442-608G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:0:0:0:11,18:321,561:0.00,56.28:0.00,0.00:0.00,56.28:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.2,46.3:0,0:0,0:106,107:45,43:16,28:-,NM_001198834.2(PDE4DIP) c.-302-u276G>A:-,NOT_FOUND:-,NOT_FOUND 1 145015582 rs2799194 G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6274,T/0.3726;NP=231;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+190826G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+187654G>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.228+278C>T;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.441+278C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G:11:11:0:0:3,8:85,259:7.13,0.00:7.13,0.00:0.00,0.00:0.60,0.00:0.60,0.00:0.00,0.00:60,60:66.7,3.9:0,0:0,0:128,34:23,115:19,12:NM_001198832.1(PDE4DIP) c.228+278C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 145015601 rs2762801 T G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=678;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+190845T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+187673T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.228+259A>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.441+259A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:G,T:16:16:0:0:5,11:162,350:14.27,0.00:14.27,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:60,60:46.6,2.8:0,0:0,0:17,46:133,103:16,22:NM_001198832.1(PDE4DIP) c.228+259A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145015877 rs77741369 G T 70 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=218;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+191121G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+187949G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.211C>A;ProtCh=p.L71I;VC=Missense;Gene=PDE4DIP/NM_022359.5/0;CC=c.424C>A;ProtCh=p.L142I;VC=Missense;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:218:172:0:0:190,28:6222,925:0.00,69.58:0.00,48.62:0.00,20.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,34.3:0,0:0,0:66,62:78,81:37,27:-,NM_001198832.1(PDE4DIP) c.211C>A (p.Leu71Ile):-,0.19:-,0.191143 1 145016012 . C . . NT END=145021111;NT GT ./. 1 145016020 rs657162 T G 729 nt VT=SNV;PN=T;NN=A;SST=Single;DP=195;DB;DBA=NA;PAF=C/0.0649,A/0.9351,T/.;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+191264T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+188092T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.77-9A>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.290-9A>C;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:195:91:0:0:195:6366:729.25:228.26:500.99:1.00:1.00:1.00:60:44.0:0:0:103:40:26:NM_001198832.1(PDE4DIP) c.77-9A>C,NM_001198832.1(PDE4DIP) c.77-9A>C:0.94,0.94:0.965016,0.965016 1 145016032 rs377420979 C CA 38 rn VT=INS;SST=Single;DP=163;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1170;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+191285dupA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+188113dupA;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.77-22dupT;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.290-22dupT;VC=Intron;DM=PDE4DIP/Cnn_1N;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,C,CA,D:162:71:18:2:1,142,17,2:9,4581,559,68:-0.32,0.00,37.78,3.18:-0.11,0.00,6.10,1.74:-0.21,0.00,31.68,1.44:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:40.0,44.4,48.0,36.0:0,13,1,0:0,0,0,0:31,101,97,121:120,45,52,19:0,29,30,10:-,NM_001198832.1(PDE4DIP) c.77-22_77-21insT:-,NOT_FOUND:-,NOT_FOUND 1 145016035 rs80291027 A C 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=158;DB;DBA=NA;PAF=T/0.7035,G/0.2965;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+191279A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+188107A>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.77-24T>G;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.290-24T>G;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:158:64:0:0:133,24,1:4314,794,7:0.00,61.74,-0.32:0.00,9.60,-0.10:0.00,52.14,-0.22:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:70,60,60:39.4,71.4,120.0:33,0,1:0,0,0:104,95,105:43,55,39:27,32,0:-,NM_001198832.1(PDE4DIP) c.77-24T>G:-,NOT_FOUND:-,NOT_FOUND 1 145016227 rs1663924 T G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=191;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+191471T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+188299T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.77-216A>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.290-216A>C;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:G,T:20:0:0:0:5,15:160,473:13.51,0.00:0.00,0.00:13.51,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:43.6,34.5:0,0:0,0:128,93:23,57:7,43:NM_001198832.1(PDE4DIP) c.77-216A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145020936 rs1778693 A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.044;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+196180A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+193008A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.76+176T>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.289+176T>C;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:13,8:444,218:0.00,19.54:0.00,19.54:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:28.3,29.9:0,0:0,0:50,59:101,91:27,35:-,NM_001198832.1(PDE4DIP) c.76+176T>C:-,NOT_FOUND:-,NOT_FOUND 1 145021024 rs1778692 G C 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+196268G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+193096G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.76+88C>G;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.289+88C>G;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:36:0:0:17,22:544,743:50.90,0.00:39.95,0.00:10.95,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:59.8,6.7:0,0:0,0:30,42:121,108:21,28:NM_001198832.1(PDE4DIP) c.76+88C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145021034 rs674066 C A 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1645;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+196278C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+193106C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.76+78G>T;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.289+78G>T;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:43:40:0:0:11,32:335,1027:28.13,0.00:23.87,0.00:4.27,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,60:72.1,11.5:0,0:0,0:40,39:111,111:11,27:NM_001198832.1(PDE4DIP) c.76+78G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 145021168 . C . . NT END=145039589;NT GT ./. 1 145021265 rs673110 A G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.7185,T/0.2815;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+196509A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+193337A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.21-98T>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-98T>C;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,G:35:6:0:0:31,4:974,115:0.00,8.06:0.00,0.62:0.00,7.44:0.00,0.61:0.00,0.49:0.00,0.94:60,60:18.0,39.8:0,0:0,0:95,83:55,64:24,59:-,NM_001198832.1(PDE4DIP) c.21-98T>C:-,NOT_FOUND:-,NOT_FOUND 1 145024461 rs1663910 C G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.075;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+199705C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+196533C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.21-3294G>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-3294G>C;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:4:0:0:1,4:35,134:0.00,14.22:0.00,11.14:0.00,3.08:0.00,0.96:0.00,1.00:0.00,0.87:60,60:0.0,74.0:0,0:0,0:82,44:68,107:0,31:-,NM_001198832.1(PDE4DIP) c.21-3294G>C:-,NOT_FOUND:-,NOT_FOUND 1 145024590 rs55638890 T C 10 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=27;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+199834T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+196662T>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.21-3423A>G;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-3423A>G;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:C,T,D:5:3:0:4:3,1,1:96,34,32:9.97,0.00,2.88:1.48,0.00,2.88:8.49,0.00,0.00:0.78,0.00,0.00:0.94,0.00,0.00:0.94,0.00,0.00:60,60,60:57.0,0.0,20.0:0,0,0:0,0,0:74,85,60:59,31,90:65,0,0:NM_001198832.1(PDE4DIP) c.21-3423A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145024726 rs616390 T G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+199970T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+196798T>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.21-3559A>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-3559A>C;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:G,T:5:1:0:0:3,2:100,57:9.97,0.00:3.85,0.00:6.12,0.00:0.78,0.00:0.73,0.00:0.97,0.00:60,60:54.7,47.5:0,0:0,0:124,113:27,37:17,27:NM_001198832.1(PDE4DIP) c.21-3559A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145038132 rs2762749 G T 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.348;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+213376G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+210204G>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.20+1458C>A;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-16965C>A;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,T:4:3:0:0:2,2:71,68:0.00,6.55:0.00,3.43:0.00,3.12:0.00,0.51:0.00,0.89:0.00,0.51:60,60:28.0,68.0:0,0:0,0:64,82:64,67:2,46:-,NM_001198832.1(PDE4DIP) c.20+1458C>A:-,NOT_FOUND:-,NOT_FOUND 1 145039395 rs6699476 C G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.8902,C/0.1098;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+214639C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+211467C>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.20+195G>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18228G>C;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:39:39:0:0:34,5:1016,138:0.00,9.71:0.00,9.71:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:60,60:18.5,31.4:0,0:0,0:36,103:115,47:20,17:-,NM_001198832.1(PDE4DIP) c.20+195G>C:-,NOT_FOUND:-,NOT_FOUND 1 145039562 rs1663878 C T 267 nt VT=SNV;PN=G;NN=G;SST=Single;DP=241;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+214806C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+211634C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.20+28G>A;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18395G>A;VC=Intron;DM=PDE4DIP/Cnn_1N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:241:210:0:0:1,139,2,99:10,4610,27,2900:-0.20,0.00,-0.07,266.90:-0.14,0.00,0.04,157.35:-0.05,0.00,-0.11,109.55:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:116.0,6.4,62.5,49.1:0,0,0,0:0,0,0,0:33,48,28,47:117,95,123,103:0,31,10,25:-,NM_001198832.1(PDE4DIP) c.20+28G>A:-,NOT_FOUND:-,NOT_FOUND 1 145039633 rs2762750 C T 136 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=367;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+214877C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+211705C>T;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.-24G>A;VC=5UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18466G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:367:288:0:0:1,308,58:7,10310,1777:-0.39,0.00,136.07:-0.23,0.00,76.70:-0.16,0.00,59.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:100.0,11.6,51.3:0,0,0:0,0,0:39,65,65:112,81,86:0,33,32:-,NM_001198832.1(PDE4DIP) c.-24G>A:-,NOT_FOUND:-,NOT_FOUND 1 145039821 rs7554603 C A 175 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=537;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215065C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+211893C>A;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.-212G>T;VC=5UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18654G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:537:404:0:0:73,464:2328,14867:175.19,0.00:110.45,0.00:64.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:92.0,20.0:0,0:0,0:45,70:100,76:27,39:NM_001198832.1(PDE4DIP) c.-212G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 145039831 rs1343582 A G 347 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=547;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215075A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+211903A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.-222T>C;VC=5UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18664T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:547:408:0:0:412,1,133,1:13235,8,4145,9:0.00,-0.35,346.53,-0.34:0.00,-0.20,197.75,-0.21:0.00,-0.15,148.78,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:15.7,18.0,82.0,21.0:0,0,0,0:0,0,0,0:68,149,52,5:80,1,96,146:36,0,34,0:-,NM_001198832.1(PDE4DIP) c.-222T>C:-,NOT_FOUND:-,NOT_FOUND 1 145039866 rs1445033 A G 676 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=583;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215110A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+211938A>G;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.-257T>C;VC=5UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18699T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:583:406:0:0:343,1,236,3:11307,9,7330,34:0.00,-0.28,675.54,-0.53:0.00,-0.16,338.89,-0.26:0.00,-0.12,336.66,-0.27:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,18,60,60:13.4,266.0,59.2,100.7:0,0,0,0:0,0,0,0:68,113,65,76:79,37,80,75:33,0,32,9:-,NM_001198832.1(PDE4DIP) c.-257T>C:-,NOT_FOUND:-,NOT_FOUND 1 145039922 rs55747750 G C 151 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=586;DB;DBA=NA;PAF=NA;PC=0.801;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215166G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+211994G>C;VC=Intron;Gene=PDE4DIP/NM_001198832.2/0;CC=c.-313C>G;VC=5UTR;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18755C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:586:363:0:0:75,509,2:2122,15758,24:151.35,0.00,-0.55:56.64,0.00,-0.30:94.71,0.00,-0.25:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:70,70,60:40.7,27.1,84.5:0,0,0:0,0,0:86,70,88:58,76,59:36,37,14:NM_001198832.1(PDE4DIP) c.-313C>G,-:0.1,-:NOT_FOUND,- 1 145039996 . C . . NT END=145075629;NT GT ./. 1 145040039 rs2762752 G C 532 nt VT=SNV;PN=A;NN=A;SST=Single;DP=386;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215283G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+212111G>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18872C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:386:161:0:0:1,168,217:9,5665,7210:-0.26,532.13,0.00:-0.07,149.56,0.00:-0.19,382.57,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,70:234.0,73.8,9.4:0,0,0:0,0,0:125,95,101:25,47,42:0,24,24:NM_022359.5(PDE4DIP) c.234-18872C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145040054 rs1445031 A G 482 nt VT=SNV;PN=T;NN=C;SST=Single;DP=327;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215298A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+212126A>G;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18887T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:327:139:0:0:179,148:5507,5096:0.00,482.47:0.00,139.01:0.00,343.46:0.00,1.00:0.00,1.00:0.00,1.00:70,60:9.5,80.1:0,0:0,0:108,109:39,33:24,22:-,NM_022359.5(PDE4DIP) c.234-18887T>C:-,NOT_FOUND:-,NOT_FOUND 1 145040063 . CT C 196 nt VT=DEL;SST=Single;DP=302;NP=8;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215308delT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+212136delT;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18897delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,C:302:117:0:77:224,1,77:7336,11,2331:0.00,-0.25,195.55:0.00,-0.07,52.99:0.00,-0.18,142.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:52.6,133.0,9.2:0,0,0:0,0,0:107,25,113:38,126,38:26,0,20:-,NM_022359.5(PDE4DIP) c.234-18897delA:-,NOT_FOUND:-,NOT_FOUND 1 145040148 rs1631027 G C 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215392G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+212220G>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-18981C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:87:0:0:0:39,48:1080,1490:100.43,0.00:0.00,0.00:100.43,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,70:73.0,11.6:0,0:0,0:105,91:44,59:23,25:NM_022359.5(PDE4DIP) c.234-18981C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145040326 rs1629409 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+215570T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+212398T>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.234-19159A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T:15:0:0:0:4,11:105,341:8.63,0.00:0.00,0.00:8.63,0.00:0.76,0.00:0.00,0.00:0.76,0.00:60,60:53.5,14.3:0,0:0,0:88,138:62,11:21,9:NM_022359.5(PDE4DIP) c.234-19159A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145057012 rs649103 A G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.5357+232256A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2583+229084A>G;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.233+18618T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:3:0:0:2,3:69,104:0.00,10.37:0.00,3.06:0.00,7.31:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,37.0:0,0:0,0:111,60:27,91:13,0:-,NM_022359.5(PDE4DIP) c.233+18618T>C:-,NOT_FOUND:-,NOT_FOUND 1 145075315 rs920932 G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-238019G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-238019G>A;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.233+315C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:11:11:0:0:4,7:82,203:6.96,0.00:6.96,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:81.5,34.0:0,0:0,0:45,21:103,130:27,6:NM_022359.5(PDE4DIP) c.233+315C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 145075355 rs3978516 A AGAGACG 13 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-237976_5358-237975insACGGAG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-237976_2584-237975insACGGAG;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.233+274_233+275insCGTCTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:A,AGAGACG:15:15:5:0:10,5:302,148:0.00,13.04:0.00,13.04:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:44.8,26.8:1,0:0,0:64,25:86,126:9,11:-,NM_022359.5(PDE4DIP) c.233+274_233+275insCGTCTC:-,NOT_FOUND:-,NOT_FOUND 1 145075439 rs2590073 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-237895G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-237895G>A;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.233+191C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:42:42:0:0:7,35:203,942:15.46,0.00:15.46,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:60.6,17.3:0,0:0,0:58,38:93,106:6,31:NM_022359.5(PDE4DIP) c.233+191C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 145075519 rs2596337 G C 114 nt VT=SNV;PN=C;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-237815G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-237815G>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.233+111C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:94:94:0:0:39,55:1234,1563:114.45,0.00:114.45,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.2,9.6:0,0:0,0:54,61:97,90:33,30:NM_022359.5(PDE4DIP) c.233+111C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145075683 rs2762779 C T 679 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=500;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-237651C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-237651C>T;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.180G>A;ProtCh=p.W60*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:500:420:0:0:285,215:9041,7248:0.00,678.98:0.00,450.27:0.00,228.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,41.4:0,0:0,0:56,56:85,89:27,26:-,NM_022359.5(PDE4DIP) c.180G>A (p.Trp60*):-,0.5:-,NOT_FOUND 1 145075854 rs1663853 G C 397 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=404;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-237480G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-237480G>C;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.9C>G;ProtCh=p.G3=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:404:180:0:0:1,138,265:10,4439,9032:-0.21,397.27,0.00:-0.05,85.53,0.00:-0.16,311.73,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:227.0,42.2,14.5:0,0,0:0,0,0:53,102,89:98,47,54:0,27,29:NM_022359.5(PDE4DIP) c.9C>G (p.(=)),-:0.5,-:NOT_FOUND,- 1 145075863 . G . . NT END=145096524;NT GT ./. 1 145075903 rs2596336 C T 52 nt VT=SNV;PN=T;NN=C;SST=Single;DP=259;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-237431C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-237431C>T;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.-41G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,T:259:88:0:0:235,24:7425,753:0.00,52.16:0.00,9.04:0.00,43.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.2,64.8:0,0:0,0:113,115:35,29:21,19:-,NM_022359.5(PDE4DIP) c.-41G>A:-,0.31:-,NOT_FOUND 1 145075923 rs6656135 C T 245 nt VT=SNV;PN=T;NN=T;SST=Single;DP=210;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-237411C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-237411C>T;VC=Intron;Gene=PDE4DIP/NM_022359.5/0;CC=c.-61G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:210:50:0:0:125,85:4048,2655:0.00,244.51:0.00,38.10:0.00,206.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.2,39.5:0,0:0,0:111,113:40,36:30,20:-,NM_022359.5(PDE4DIP) c.-61G>A:-,NOT_FOUND:-,NOT_FOUND 1 145084408 rs2762701 T G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.056;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-228926T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-228926T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:G,T:12:11:0:0:4,8:135,264:12.09,0.00:5.71,0.00:6.39,0.00:0.80,0.00:0.98,0.00:0.89,0.00:60,60:50.2,1.4:0,0:0,0:48,63:102,88:30,22:chr1 g.145084407T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145084450 rs57336391 CTTATT C 8 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=226;PC=0.257;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-228878_5358-228874delTTATT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-228878_2584-228874delTTATT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:CTTATT,C:14:9:0:3:11,3:345,94:0.00,7.67:0.00,5.09:0.00,2.58:0.00,0.56:0.00,0.84:0.00,0.81:60,60:17.5,62.3:0,0:0,0:83,45:65,106:35,28:-,chr1 g.145084451_145084455delTTATT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145084475 rs56676178 GGTGTGT G 7 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.517;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-228816_5358-228811delGTGTGT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-228816_2584-228811delGTGTGT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:GGTGTGT,I,G:12:9:1:7:8,1,3:229,28,216:0.00,1.85,7.43:0.00,-0.11,3.61:0.00,1.96,3.82:0.00,0.00,0.54:0.00,0.00,0.80:0.00,0.00,0.87:60,60,60:10.4,0.0,130.7:0,0,4:0,0,0:113,9,53:35,142,97:17,0,12:-,chr1 g.145084476_145084481delGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145084603 rs2590066 C T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.019;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-228731C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-228731C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,T:7:1:0:0:3,4:106,130:0.00,12.83:0.00,3.33:0.00,9.50:0.00,0.90:0.00,0.71:0.00,0.99:60,60:0.0,55.5:0,0:0,0:81,112:69,38:53,25:-,chr1 g.145084602C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145096645 . C . . NT END=145103902;NT GT ./. 1 145103660 rs7556430 A G 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-209674A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-209674A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.76-248A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,G:7:7:0:0:4,3:122,106:0.00,9.96:0.00,9.96:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:23.8,52.0:0,0:0,0:65,59:85,92:55,7:-,XR_159107.1(LOC100996517) n.212-248A>G:-,NOT_FOUND:-,NOT_FOUND 1 145103844 rs2590144 G A 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.022;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-209490G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-209490G>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.76-64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:54:0:0:15,44:494,1389:42.04,0.00:35.18,0.00:6.86,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:60.5,7.0:0,0:0,0:70,35:80,113:33,24:XR_159107.1(LOC100996517) n.212-64G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145103928 rs2596251 G A 32 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.6599,T/0.3401;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-209406G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-209406G>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.96G>A;ProtCh=p.Q32=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:70:0:0:13,87:430,2891:32.44,0.00:13.38,0.00:19.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.5,14.5:0,0:0,0:44,68:88,69:19,28:XR_159107.1(LOC100996517) n.232G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145103947 rs2794062 T C 86 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-209387T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-209387T>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.115T>C;ProtCh=p.*39Qext*177;VC=Readthrough;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:106:68:0:0:29,77:988,2433:85.63,0.00:33.37,0.00:52.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.5,5.6:0,0:0,0:63,79:72,63:19,32:XR_159107.1(LOC100996517) n.251T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145104023 . T . . NT END=145109483;NT GT ./. 1 145104052 rs56235948 AGT A 22 nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=1495;PC=0.577;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-209278_5358-209277delTG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-209278_2584-209277delTG;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.185+39_185+40delTG;VC=Intron;DM=SEC22B/Longin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:AGT,A:52:8:0:9:43,9:1464,283:0.00,22.19:0.00,-0.45:0.00,22.65:0.00,0.98:0.00,0.74:0.00,1.00:60,60:5.0,20.7:0,0:0,0:108,96:41,55:19,29:-,XR_159107.1(LOC100996517) n.321+36_321+37delGT:-,NOT_FOUND:-,0.430389 1 145106351 rs2596362 G T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=5;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-206983G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-206983G>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.185+2334G>T;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:G,T:5:5:0:0:1,4:32,134:0.00,14.22:0.00,12.23:0.00,1.99:0.00,0.96:0.00,0.96:0.00,0.87:60,60:0.0,85.5:0,0:0,0:64,44:87,107:0,12:-,XR_159107.1(LOC100996517) n.321+2334G>T:-,NOT_FOUND:-,NOT_FOUND 1 145106431 rs61439663 GTGTGTGTA G 8 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-206895_5358-206888delATGTGTGT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-206895_2584-206888delATGTGTGT;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.185+2422_185+2429delATGTGTGT;VC=Intron;DM=SEC22B/Longin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:GTGTGTGTA,G:9:8:0:4:6,3:178,89:0.00,7.85:0.00,6.42:0.00,1.44:0.00,0.64:0.00,0.94:0.00,0.73:60,60:63.8,23.3:1,0:0,0:95,66:56,85:39,23:-,XR_159107.1(LOC100996517) n.321+2415_321+2422delTGTGTGTA:-,NOT_FOUND:-,NOT_FOUND 1 145106439 rs2596361 A G 14 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-206895A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-206895A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.185+2422A>G;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:6:4:0:5:2,4:68,137:0.00,13.95:0.00,8.98:0.00,4.97:0.00,0.93:0.00,0.99:0.00,0.97:60,60:17.0,70.8:0,0:0,0:79,105:71,20:1,25:-,XR_159107.1(LOC100996517) n.321+2422A>G:-,NOT_FOUND:-,NOT_FOUND 1 145109283 rs373765269 CAAAAAAAAA C 13 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=14;PC=0.104;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-204050_5358-204042delAAAAAAAAA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-204050_2584-204042delAAAAAAAAA;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.186-240_186-232delAAAAAAAAA;VC=Intron;DM=SEC22B/Longin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:CAAAAAAAAA,G,I,C:23:23:2:5:15,1,2,5:494,9,65,156:0.00,-0.02,4.74,13.08:0.00,-0.02,4.74,13.08:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.00:60,60,60,60:8.2,56.0,68.0,4.6:0,0,0,0:0,0,0,0:46,39,27,40:105,69,114,111:43,0,3,20:-,XR_159107.1(LOC100996517) n.322-240_322-232delAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 145109295 rs143391068 A C 20 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=4;PC=0.088;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-204039A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-204039A>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.186-229A>C;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:26:0:1:19,7:590,228:0.00,19.57:0.00,19.57:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:13.3,12.4:0,5:0,0:35,27:114,123:21,26:-,XR_159107.1(LOC100996517) n.322-229A>C:-,NOT_FOUND:-,NOT_FOUND 1 145109312 rs9424678 C CA 20 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=173;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-204012dupA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-204012dupA;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.186-202dupA;VC=Intron;DM=SEC22B/Longin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,C,G,CA,D:32:32:7:1:2,17,5,7,1:25,569,149,231,28:0.75,0.00,12.03,20.00,1.54:0.75,0.00,12.03,20.00,1.54:0.00,0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.95,0.00:0.00,0.00,0.00,0.95,0.00:0.00,0.00,0.00,0.00,0.00:60,60,60,60,60:75.0,12.5,66.0,12.4,0.0:0,0,1,0,0:0,0,0,0,0:93,38,14,44,52:47,110,128,106,97:39,21,8,26,0:-,XR_159107.1(LOC100996517) n.322-212_322-211insA:-,NOT_FOUND:-,NOT_FOUND 1 145109430 rs2442653 A T 67 nt VT=SNV;PN=T;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203904A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203904A>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.186-94A>T;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:115:107:0:0:88,1,26:2805,11,812:0.00,-0.23,67.03:0.00,-0.17,62.55:0.00,-0.06,4.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:51.7,109.0,102.5:0,0,0:0,0,0:37,128,69:113,21,82:27,0,38:-,XR_159107.1(LOC100996517) n.322-94A>T:-,NOT_FOUND:-,NOT_FOUND 1 145109456 rs7553975 C T 116 nt VT=SNV;PN=T;NN=T;SST=Single;DP=144;DB;DBA=NA;PAF=NA;NP=1;NP=3211;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203878C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203878C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.186-68C>T;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:144:130:0:0:99,45:3289,1338:0.00,116.40:0.00,94.77:0.00,21.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:62.8,79.9:0,0:0,0:41,54:109,97:28,29:-,XR_159107.1(LOC100996517) n.322-68C>T:-,NOT_FOUND:-,NOT_FOUND 1 145109468 rs2442652 A G 661 nt VT=SNV;PN=T;NN=T;SST=Single;DP=174;DB;DBA=NA;PAF=C/0.05312,T/0.9469;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203866A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203866A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.186-56A>G;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:174:155:0:0:174:5779:660.70:505.61:155.09:1.00:1.00:1.00:60:67.9:0:0:46:103:29:XR_159107.1(LOC100996517) n.322-56A>G,XR_159107.1(LOC100996517) n.322-56A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145109493 rs2442651 C T 90 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=208;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203841C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203841C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.186-31C>T;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:208:179:0:0:171,1,36:5695,10,1141:0.00,-0.32,89.83:0.00,-0.22,62.92:0.00,-0.10,26.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:48.7,186.0,112.4:0,0,0:0,0,0:44,99,55:104,52,86:23,0,34:-,XR_159107.1(LOC100996517) n.322-31C>T:-,NOT_FOUND:-,NOT_FOUND 1 145109549 rs2596331 G T 118 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=273;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203785G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203785G>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.211G>T;ProtCh=p.D71Y;VC=Missense;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:273:212:0:0:221,52:7425,1511:0.00,118.37:0.00,68.69:0.00,49.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.0,93.2:0,0:0,0:74,62:68,81:31,33:-,XR_159107.1(LOC100996517) n.347G>T:-,NOT_FOUND:-,0.3091 1 145109583 rs2794053 C A 424 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=269;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203751C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203751C>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.245C>A;ProtCh=p.T82K;VC=Missense;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:269:197:0:0:134,135:4407,4320:423.72,0.00:228.98,0.00:194.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.6,16.4:0,0:0,0:68,85:78,60:28,38:XR_159107.1(LOC100996517) n.381C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145109661 rs2655551 G A 225 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=257;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203673G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203673G>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.323G>A;ProtCh=p.R108Q;VC=Missense;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:257:127:0:0:80,177:2564,5753:225.37,0.00:71.97,0.00:153.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.1,11.8:0,0:0,0:81,78:65,70:38,29:XR_159107.1(LOC100996517) n.459G>A,-:NOT_FOUND,-:0.38122,- 1 145109724 . A . . NT END=145112325;NT GT ./. 1 145109809 rs2596327 T A 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203525T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203525T>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.346+125T>A;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:74:0:0:0:20,54:639,1696:54.70,0.00:0.00,0.00:54.70,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.5,11.9:0,0:0,0:106,99:43,49:27,37:XR_159107.1(LOC100996517) n.482+125T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145109897 rs2289797 C T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6532,G/0.3468;NP=751;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-203437C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-203437C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.346+213C>T;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,G,T:22:0:0:0:15,1,6:442,10,177:0.00,0.04,15.11:0.00,0.00,0.00:0.00,0.04,15.11:0.00,0.00,0.93:0.00,0.00,0.00:0.00,0.00,0.93:60,60,60:14.5,194.0,35.7:0,0,0:0,0,0:129,120,122:22,30,27:14,0,16:-,XR_159107.1(LOC100996517) n.482+213C>T:-,NOT_FOUND:-,NOT_FOUND 1 145111981 rs3871983 T A 13 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201353T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201353T>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-392T>A;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:109:12.76:10.77:1.99:1.00:1.00:1.00:60:60.5:0:0:46:87:41:XR_159107.1(LOC100996517) n.483-392T>A,XR_159107.1(LOC100996517) n.483-392T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145112049 rs367602437 T TGTG 9 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=341;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201276_5358-201275insGTG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201276_2584-201275insGTG;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-315_347-314insGTG;VC=Intron;DM=SEC22B/Longin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:T,TGTG:11:10:3:0:8,3:214,99:0.00,8.54:0.00,8.68:0.00,-0.14:0.00,0.60:0.00,0.93:0.00,0.52:60,60:48.5,58.3:1,0:0,0:39,29:112,122:19,9:-,XR_159107.1(LOC100996517) n.483-324_483-323insGTG:-,NOT_FOUND:-,NOT_FOUND 1 145112066 rs12087997 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=642;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201268A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201268A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-307A>G;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:13:12:0:0:9,4:257,101:0.00,8.50:0.00,8.66:0.00,-0.16:0.00,0.79:0.00,0.97:0.00,0.54:60,60:32.6,67.5:0,0:0,0:47,49:104,102:38,4:-,XR_159107.1(LOC100996517) n.483-307A>G:-,NOT_FOUND:-,NOT_FOUND 1 145112072 rs2490185 G C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201262G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201262G>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-301G>C;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,G:13:12:0:0:7,6:200,182:19.43,0.00:19.77,0.00:-0.34,0.00:0.99,0.00:1.00,0.00:0.69,0.00:60,60:55.6,29.0:0,0:0,0:53,83:98,67:5,28:XR_159107.1(LOC100996517) n.483-301G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145112285 rs139568698 C T 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.4944,A/0.5056;NP=30;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201049C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201049C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-88C>T;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:118:113:0:0:87,1,30:2650,5,982:0.00,-0.28,83.62:0.00,-0.23,79.25:0.00,-0.05,4.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:35.1,18.0,116.1:0,0,0:0,0,0:51,104,55:99,47,92:38,0,41:-,XR_159107.1(LOC100996517) n.483-88C>T:-,NOT_FOUND:-,NOT_FOUND 1 145112287 rs2794042 T C 196 nt VT=SNV;PN=G;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.4944,G/0.5056;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201047T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201047T>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-86T>C;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:119:114:0:0:61,58:2024,1706:195.63,0.00:175.46,0.00:20.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.4,12.6:0,0:0,0:65,39:84,107:37,21:XR_159107.1(LOC100996517) n.483-86T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145112288 rs151321719 G A 84 nt VT=SNV;PN=T;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.4944,T/0.5056;NP=40;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201046G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201046G>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-85G>A;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:115:0:0:30,90:994,2811:84.46,0.00:80.98,0.00:3.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:115.5,34.2:0,0:0,0:50,48:96,102:36,35:XR_159107.1(LOC100996517) n.483-85G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145112313 rs2596302 T C 122 nt VT=SNV;PN=T;NN=T;SST=Single;DP=172;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-201021T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-201021T>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.347-60T>C;VC=Intron;DM=SEC22B/Longin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:172:157:0:0:1,43,128:9,1431,3946:-0.29,121.79,0.00:-0.21,98.17,0.00:-0.07,23.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:157.0,84.0,33.7:0,0,0:0,0,0:130,57,39:21,92,107:0,44,24:XR_159107.1(LOC100996517) n.483-60T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145112414 rs2590131 T C 170 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=291;DB;DBA=NA;PAF=NA;NP=3324;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200920T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200920T>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.388T>C;ProtCh=p.C130R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:291:221:0:0:63,228:2057,7282:169.78,0.00:87.83,0.00:81.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:92.4,18.5:0,0:0,0:79,65:69,81:33,35:XR_159107.1(LOC100996517) n.524T>C,-:NOT_FOUND,-:0.372946,- 1 145112420 rs2794041 C T 235 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=294;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200914C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200914C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.394C>T;ProtCh=p.R132*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:294:221:0:0:209,85:6799,2716:0.00,235.38:0.00,128.15:0.00,107.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.7,44.3:0,0:0,0:78,66:67,83:35,32:-,XR_159107.1(LOC100996517) n.530C>T:-,NOT_FOUND:-,0.399395 1 145112428 rs2794040 C T 185 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=294;DB;DBA=NA;PAF=NA;NP=3358;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200906C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200906C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.402C>T;ProtCh=p.N134=;VC=Silent;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:294:216:0:0:226,68:7420,2218:0.00,185.23:0.00,98.35:0.00,86.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.7,95.1:0,0:0,0:78,73:71,68:35,39:-,XR_159107.1(LOC100996517) n.538C>T:-,NOT_FOUND:-,NOT_FOUND 1 145112485 rs2794039 C T 163 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=281;DB;DBA=NA;PAF=NA;NP=3432;PC=0.873;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200849C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200849C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.459C>T;ProtCh=p.I153=;VC=Silent;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:281:166:0:0:2,217,62:23,6765,1974:-0.45,0.00,162.95:-0.29,0.00,65.54:-0.16,0.00,97.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:94.5,14.0,75.0:0,0,0:0,0,0:36,82,72:114,61,69:4,37,24:-,XR_159107.1(LOC100996517) n.595C>T:-,NOT_FOUND:-,0.422732 1 145112566 . A . . NT END=145115692;NT GT ./. 1 145112701 rs2655553 G A 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.042;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200633G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200633G>A;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.493+182G>A;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:0:0:0:15,37:491,1151:42.71,0.00:0.00,0.00:42.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:64.9,20.5:0,0:0,0:94,95:57,55:31,22:XR_159107.1(LOC100996517) n.629+182G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145112758 rs2794038 C G 107 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.02576,G/0.9742;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200576C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200576C>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.493+239C>G;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:A,G:32:1:0:0:2,30:33,940:1.95,107.38:0.00,4.05:1.95,103.33:0.00,1.00:0.00,0.96:0.00,1.00:60,60:131.5,64.8:0,0:0,0:4,114:147,37:4,26:XR_159107.1(LOC100996517) n.629+239C>G,XR_159107.1(LOC100996517) n.629+239C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145112784 rs2794037 A G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.105;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200550A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200550A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.493+265A>G;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:1:0:0:12,10:365,271:0.00,25.23:0.00,-0.26:0.00,25.50:0.00,1.00:0.00,0.64:0.00,1.00:60,60:67.7,100.3:0,0:0,0:107,78:43,72:31,54:-,XR_159107.1(LOC100996517) n.629+265A>G:-,NOT_FOUND:-,NOT_FOUND 1 145112811 rs2802154 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.015;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200523A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200523A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.493+292A>G;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:1:0:0:9,6:279,203:0.00,18.78:0.00,-0.22:0.00,19.00:0.00,0.96:0.00,0.60:0.00,1.00:60,60:77.0,94.3:0,0:0,0:100,89:51,61:35,16:-,XR_159107.1(LOC100996517) n.629+292A>G:-,NOT_FOUND:-,NOT_FOUND 1 145112827 rs2794036 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5693,A/0.4307,C/.;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200507C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200507C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.493+308C>T;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:12:1:0:0:9,3:270,104:0.00,8.91:0.00,-0.06:0.00,8.97:0.00,0.59:0.00,0.50:0.00,0.59:60,60:94.7,104.3:0,0:0,0:110,108:40,42:19,8:-,XR_159107.1(LOC100996517) n.629+308C>T:-,NOT_FOUND:-,NOT_FOUND 1 145112828 rs2794035 A G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5693,C/0.4307;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-200506A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-200506A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.493+309A>G;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:11:1:0:0:8,3:228,101:0.00,8.74:0.00,-0.07:0.00,8.81:0.00,0.60:0.00,0.52:0.00,0.60:60,60:100.9,104.3:0,0:0,0:106,109:44,41:17,8:-,XR_159107.1(LOC100996517) n.629+309A>G:-,NOT_FOUND:-,NOT_FOUND 1 145115342 rs2655556 T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197992T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197992T>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.494-393T>C;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:8:8:0:0:3,5:106,154:9.73,0.00:9.73,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:35.3,20.2:0,0:0,0:27,48:123,102:8,8:XR_159107.1(LOC100996517) n.630-393T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145115556 rs7545073 A C 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197778A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197778A>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.494-179A>C;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:39:38:0:0:28,11:897,374:0.00,32.57:0.00,32.72:0.00,-0.14:0.00,1.00:0.00,1.00:0.00,0.52:60,60:1.4,57.2:0,0:0,0:44,91:106,59:25,30:-,XR_159107.1(LOC100996517) n.630-179A>C:-,NOT_FOUND:-,NOT_FOUND 1 145115602 rs7540746 C T 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.972;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197732C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197732C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.494-133C>T;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:63:0:0:46,18:1526,529:0.00,44.97:0.00,43.62:0.00,1.35:0.00,1.00:0.00,1.00:0.00,0.66:60,60:2.1,55.5:0,0:0,0:50,37:101,114:32,20:-,XR_159107.1(LOC100996517) n.630-133C>T:-,NOT_FOUND:-,NOT_FOUND 1 145115658 rs587597663 TATTTTTAA T 71 nt VT=DEL;SST=Single;DP=117;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2749;PC=0.121;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197675_5358-197668delATTTTTAA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197675_2584-197668delATTTTTAA;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.494-76_494-69delATTTTTAA;VC=Intron;DM=SEC22B/Synaptobrevin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TATTTTTAA,T:117:103:0:29:89,28:2801,854:0.00,70.80:0.00,55.42:0.00,15.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:10.0,42.9:0,0:0,0:49,43:100,104:26,21:-,XR_159107.1(LOC100996517) n.630-76_630-69delATTTTTAA:-,NOT_FOUND:-,NOT_FOUND 1 145115675 . T G 40 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=152;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197659T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197659T>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.494-60T>G;VC=Intron;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:152:132:0:0:18,134:558,4223:40.43,0.00:27.72,0.00:12.71,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,70:55.7,16.0:13,15:0,0:45,47:104,99:25,30:XR_159107.1(LOC100996517) n.630-60T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145115810 rs2655557 A G 462 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=242;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197524A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197524A>G;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.569A>G;ProtCh=p.H190R;VC=Missense;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:242:153:0:0:94,147,1:3040,4627,10:0.00,462.44,-0.12:0.00,195.70,-0.08:0.00,266.74,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.0,54.1,175.0:0,0,0:0,0,0:75,65,82:74,86,68:36,38,0:-,XR_159107.1(LOC100996517) n.705A>G:-,NOT_FOUND:-,NOT_FOUND 1 145115815 rs202212505 A C 80 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=240;DB;DBA=NA;PAF=NA;NP=616;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197519A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197519A>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.574A>C;ProtCh=p.T192P;VC=Missense;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:240:151:0:0:204,36:6516,1067:0.00,79.98:0.00,35.66:0.00,44.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.3,63.4:0,0:0,0:78,65:72,83:37,29:-,XR_159107.1(LOC100996517) n.710A>C:-,NOT_FOUND:-,0.00241 1 145115820 rs2655558 T C 127 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=246;DB;DBA=NA;PAF=NA;NP=3435;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197514T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197514T>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.579T>C;ProtCh=p.Y193=;VC=Silent;DM=SEC22B/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:246:152:0:0:51,195:1572,6391:127.08,0.00:40.82,0.00:86.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.5,27.4:0,0:0,0:80,71:70,77:34,36:XR_159107.1(LOC100996517) n.715T>C,-:NOT_FOUND,-:0.456714,- 1 145115933 . T . . NT END=145176464;NT GT ./. 1 145116027 rs7550440 T C 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.801;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197307T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197307T>C;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.*138T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:4:0:0:17,45:527,1393:45.00,0.00:4.59,0.00:40.41,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:35.0,7.5:0,0:0,0:121,103:30,47:23,33:chr1 g.145116026T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145116152 rs74909635 C T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9213,A/0.07867;NP=18;PC=0.049;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197182C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197182C>T;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.*263C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,T:16:1:0:0:13,3:376,96:0.00,7.69:0.00,-0.09:0.00,7.78:0.00,0.54:0.00,0.46:0.00,0.91:60,60:12.2,32.0:2,0:0,0:122,17:29,134:18,16:-,chr1 g.145116151C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145116192 rs66989703 TG T 15 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=138;PC=0.102;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-197138delG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-197138delG;VC=Intron;Gene=SEC22B/NM_004892.5/1;CC=c.*307delG;VC=3UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:TG,T:8:0:0:5:3,5:102,150:0.00,15.08:0.00,0.00:0.00,15.08:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,19.2:0,0:0,0:88,57:62,94:8,16:-,chr1 g.145116193delG (intergenic):-,0.34:-,NOT_FOUND 1 145139088 rs200431657 C CG 179 sb,nt VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1449;PC=0.986;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-174245dupG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-174245dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G,CG:52:51:50:0:2,50:42,1562:2.36,179.19:1.18,179.19:1.18,0.00:0.00,1.00:0.00,1.00:0.00,0.97:44,40:25.5,6.5:0,0:0,0:1,52:149,98:0,25:NR_002212.3(NUDT4P1) n.814dupC,NR_002212.3(NUDT4P1) n.814dupC:0.96,0.96:NOT_FOUND,NOT_FOUND 1 145139661 rs1341427 T C 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-173673T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-173673T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:322:37.43:0.00:37.43:1.00:0.00:1.00:40:35.0:0:0:47:104:14:NR_002212.3(NUDT4P1) n.242A>G,NR_002212.3(NUDT4P1) n.242A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 145139852 rs61811104 G A,C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.769 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,C:4:0:0:0:3,1:100,6:11.06,0.48:0.00,0.00:11.06,0.48:0.85,0.00:0.00,0.00:0.85,0.00:60,40:44.3,65.0:0,0:0,0:127,128:24,21:1,0:NR_002212.3(NUDT4P1) n.51C>T,NR_002212.3(NUDT4P1) n.51C>G:0.34,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145176303 rs201307189 C G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=666;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-137031C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-137031C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:26:0:0:15,11:484,311:0.00,28.64:0.00,28.64:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:55,42:3.0,45.1:0,0:0,0:55,86:96,64:29,22:-,chr1 g.145176302C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145176363 rs147278941 ATCCAGTATAGGAGTGCCCTGGGAGCCCATC A 32 nt VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=31;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-136968_5358-136939delCAGTATAGGAGTGCCCTGGGAGCCCATCTC;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-136968_2584-136939delCAGTATAGGAGTGCCCTGGGAGCCCATCTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATCCAGTATAGGAGTGCCCTGGGAGCCCATC,A:56:53:0:12:44,12:1347,392:0.00,32.30:0.00,28.36:0.00,3.94:0.00,1.00:0.00,1.00:0.00,0.90:50,51:12.3,9.3:0,0:0,0:22,61:129,88:17,27:-,chr1 g.145176364_145176393delTCCAGTATAGGAGTGCCCTGGGAGCCCATC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145176645 . G . . NT END=145209112;NT GT ./. 1 145176971 rs4649527 A C 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-136363A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-136363A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,C:5:0:0:0:3,2:99,70:0.00,6.49:0.00,0.00:0.00,6.49:0.00,0.46:0.00,0.00:0.00,0.46:60,60:6.7,48.0:0,0:0,0:118,79:33,72:5,55:-,chr1 g.145176970A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145208852 rs200037523 C T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=56;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-104482C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-104482C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:9:9:0:0:4,5:124,160:0.00,15.70:0.00,15.70:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:40,42:9.0,62.0:0,0:0,0:77,30:71,121:43,14:-,NM_203458.3(NOTCH2NL) c.-370-u259C>T:-,NOT_FOUND:-,NOT_FOUND 1 145208930 rs369255362 C T 11 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=2;PC=0.071;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-104404C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-104404C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G,T:42:42:0:0:35,2,5:1032,11,148:0.00,-0.50,10.66:0.00,-0.50,10.66:0.00,0.00,0.00:0.00,0.00,0.76:0.00,0.00,0.76:0.00,0.00,0.00:43,44,42:28.9,51.5,18.6:0,0,4:0,0,0:27,35,47:124,111,104:17,26,44:-,NM_203458.3(NOTCH2NL) c.-370-u181C>T:-,NOT_FOUND:-,NOT_FOUND 1 145209012 rs61814511 G A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=62;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-104322G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-104322G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:104:104:0:0:9,95:290,2953:20.01,0.00:20.07,0.00:-0.06,0.00:0.95,0.00:0.95,0.00:0.30,0.00:43,44:75.4,22.2:0,0:0,0:18,59:133,92:13,32:NM_203458.3(NOTCH2NL) c.-370-u99G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145209330 . G C 448 idl,lc VT=SNV;PN=C;NN=G;SST=Single;DP=765;PC=0.992;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-104004G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-104004G>C;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-151G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:765:540:0:40:1,183,580,1:11,5434,17615,32:-0.24,448.43,0.00,0.51:-0.14,261.10,0.00,0.62:-0.10,187.33,0.00,-0.11:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,60,60,21:37.0,44.7,20.6,110.0:0,0,14,0:0,0,0,0:122,62,60,113:29,75,78,9:0,42,36,0:NM_203458.3(NOTCH2NL) c.-151G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145209366 rs856450 A G 337 lc VT=SNV;PN=T;NN=C;SST=Single;DP=800;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-103968A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-103968A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-115A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:800:555:0:0:664,3,132,1:19468,32,4290,10:0.00,-0.99,337.17,-0.28:0.00,-0.50,246.99,-0.14:0.00,-0.49,90.18,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,51,60,40:19.2,121.7,62.1,173.0:0,0,0,0:0,0,0,0:72,64,38,73:73,87,104,65:30,43,24,0:-,NM_203458.3(NOTCH2NL) c.-115A>G:-,0.13:-,NOT_FOUND 1 145209437 . G . . NT END=145209662;NT GT ./. 1 145209612 rs587749761 GCCCCGCCAACCGCCGGGGTT G 583 nt VT=DEL;SST=Single;DP=542;DB;DBA=NA;PAF=NA;NP=427;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-103674_5358-103655delAACCGCCGGGGTTCCCCGCC;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-103674_2584-103655delAACCGCCGGGGTTCCCCGCC;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+224_-45+243delAACCGCCGGGGTTCCCCGCC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GCCCCGCCAACCGCCGGGGTT,T,I,G:542:309:13:218:2,306,3,13,218:22,9915,92,291,6340:-0.41,0.00,3.23,12.62,582.52:-0.13,0.00,2.52,7.88,269.34:-0.29,0.00,0.70,4.74,313.18:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:139.5,12.3,52.7,5.5,5.4:0,0,0,0,0:0,0,0,0,0:90,104,7,29,47:42,45,144,119,98:24,21,0,6,17:-,NM_203458.3(NOTCH2NL) c.-45+177_-45+196delCCCCGCCAACCGCCGGGGTT:-,NOT_FOUND:-,NOT_FOUND 1 145209786 . G . . NT END=145212355;NT GT ./. 1 145209819 rs860659 C T 230 nt VT=SNV;PN=C;NN=T;SST=Single;DP=213;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-103515C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-103515C>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+383C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:213:75:0:0:128,1,84:4122,10,2518:0.00,-0.23,230.00:0.00,-0.08,40.52:0.00,-0.15,189.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,41,40:14.4,111.0,65.6:0,0,0:0,0,0:88,39,110:62,112,40:27,0,22:-,NM_203458.3(NOTCH2NL) c.-45+383C>T:-,0.14:-,NOT_FOUND 1 145209846 . G A 94 nt VT=SNV;PN=G;NN=C;SST=Single;DP=173;NP=78;PC=0.032;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-103488G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-103488G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+410G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:173:56:0:0:38,135:1157,4412:94.33,0.00:23.12,0.00:71.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:38.8,41.4:0,0:0,0:115,85:35,60:14,39:NM_203458.3(NOTCH2NL) c.-45+410G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145209869 rs80228373 A C 114 nt VT=SNV;PN=G;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=NA;NP=569;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-103465A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-103465A>C;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+433A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:141:34:0:0:94,47:2887,1304:0.00,113.82:0.00,13.10:0.00,100.72:0.00,1.00:0.00,1.00:0.00,1.00:52,60:18.4,96.2:0,0:0,0:108,78:39,73:29,31:-,NM_203458.3(NOTCH2NL) c.-45+433A>C:-,NOT_FOUND:-,NOT_FOUND 1 145209870 rs76440671 A G 127 nt VT=SNV;PN=A;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=T/0.6909,C/0.3091;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-103464A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-103464A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+434A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:139:34:0:0:91,48:2830,1432:0.00,127.17:0.00,10.43:0.00,116.74:0.00,1.00:0.00,1.00:0.00,1.00:52,60:18.1,94.4:0,0:0,0:109,77:41,72:28,32:-,NM_203458.3(NOTCH2NL) c.-45+434A>G:-,0.24:-,NOT_FOUND 1 145212100 rs200811170 C A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=653;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-101234C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-101234C>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+2664C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,C:11:11:0:0:3,8:101,246:8.73,0.00:8.73,0.00:0.00,0.00:0.60,0.00:0.60,0.00:0.00,0.00:42,42:33.7,14.6:0,0:0,0:31,41:120,110:6,17:NM_203458.3(NOTCH2NL) c.-45+2664C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145212245 . T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;NP=21;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-101089T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-101089T>C;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+2809T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T:28:28:0:0:4,24:140,752:10.92,0.00:10.96,0.00:-0.03,0.00:0.66,0.00:0.66,0.00:0.43,0.00:21,53:43.0,7.2:0,0:0,0:58,33:91,116:29,24:NM_203458.3(NOTCH2NL) c.-45+2809T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145212440 . g . . NT END=145227045;NT GT ./. 1 145212521 . AT A 13 rn VT=DEL;SST=Single;DP=28;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-100803delT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-100803delT;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+3095delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:AT,C,A:27:4:0:10:17,1,9:529,11,180:0.00,0.08,12.62:0.00,-0.02,0.79:0.00,0.10,11.83:0.00,0.00,0.99:0.00,0.00,0.79:0.00,0.00,0.99:51,43,50:13.5,170.0,6.4:0,0,1:0,0,0:110,124,81:38,8,69:20,0,32:-,NM_203458.3(NOTCH2NL) c.-45+3086delT:-,NOT_FOUND:-,NOT_FOUND 1 145212524 rs141144107 T G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=181;PC=0.419;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-100810T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-100810T>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+3088T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:G,T:27:4:0:0:5,22:165,713:13.27,0.00:1.54,0.00:11.73,0.00:0.82,0.00:0.57,0.00:0.82,0.00:51,50:69.2,5.0:0,10:0,0:112,113:38,36:24,19:NM_203458.3(NOTCH2NL) c.-45+3088T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145226481 rs146523825 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=679;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-86853A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-86853A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+17045A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:14:14:0:0:9,5:276,135:0.00,11.92:0.00,11.92:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:39,39:19.8,41.4:0,0:0,0:43,69:108,82:25,5:-,NM_203458.3(NOTCH2NL) c.-45+17045A>G:-,NOT_FOUND:-,NOT_FOUND 1 145226797 rs148954829 T C 143 nt VT=SNV;PN=G;NN=C;SST=Single;DP=188;DB;DBA=NA;PAF=NA;NP=766;PC=0.991;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-86537T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-86537T>C;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+17361T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:188:150:0:0:52,3,133:1662,55,4009:143.33,1.28,0.00:121.00,1.62,0.00:22.33,-0.34,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:47,44,46:63.6,18.3,4.7:0,0,0:0,0,0:45,34,58:103,116,89:29,21,27:NM_203458.3(NOTCH2NL) c.-45+17361T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145226875 rs202014711 G A 141 nt VT=SNV;PN=C;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=NA;NP=663;PC=0.115;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-86459G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-86459G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+17439G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:173:111:0:0:49,1,123:1626,22,3750:141.38,0.26,0.00:86.85,0.44,0.00:54.53,-0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:47,6,46:57.5,154.0,5.1:0,0,0:0,0,0:80,98,90:70,37,59:22,0,31:NM_203458.3(NOTCH2NL) c.-45+17439G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145227234 rs199837544 C T 45 lc VT=SNV;PN=A;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=426;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-86100C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-86100C>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+17798C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:125:82:0:0:106,19:3373,590:0.00,45.00:0.00,37.26:0.00,7.73:0.00,1.00:0.00,1.00:0.00,1.00:60,43:20.2,66.5:0,0:0,0:70,87:81,64:41,51:-,NM_203458.3(NOTCH2NL) c.-45+17798C>T:-,NOT_FOUND:-,NOT_FOUND 1 145227257 rs76173926 A G 222 lc VT=SNV;PN=G;NN=C;SST=Single;DP=138;DB;DBA=NA;PAF=NA;NP=703;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-86077A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-86077A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+17821A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:138:81:0:0:63,2,72,1:1999,22,2286,14:0.00,-0.03,222.31,-0.02:0.00,-0.05,97.11,-0.09:0.00,0.02,125.20,0.07:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,51,44,11:6.1,32.0,47.5,74.0:0,0,0,0:0,0,0,0:94,23,35,1:57,127,112,150:39,23,21,0:-,NM_203458.3(NOTCH2NL) c.-45+17821A>G:-,NOT_FOUND:-,NOT_FOUND 1 145227337 . G . . NT END=145233514;NT GT ./. 1 145227407 rs2794118 C A 149 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=395;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-85927C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-85927C>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+17971C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:67:14:0:0:46,21:1448,526:149.00,0.00:31.72,0.00:117.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,58:45.5,15.5:0,0:0,0:108,109:40,42:23,18:NM_203458.3(NOTCH2NL) c.-45+17971C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145227545 . CGT C 23 rn VT=DEL;SST=Single;DP=33;NP=2;PC=0.007;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-85768_5358-85767delGT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-85768_2584-85767delGT;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-45+18130_-45+18131delGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGT,T,C:33:3:0:9:22,3,8:562,81,267:0.00,5.59,23.00:0.00,-0.04,1.51:0.00,5.63,21.49:0.00,0.00,0.98:0.00,0.00,0.60:0.00,0.00,0.98:60,50,57:18.9,69.0,1.5:0,2,0:0,0,0:87,100,107:55,51,43:28,16,5:-,NM_203458.3(NOTCH2NL) c.-45+18110_-45+18111delGT:-,NOT_FOUND:-,NOT_FOUND 1 145233585 rs368046226 G A 21 lc VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=21;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-79749G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-79749G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-44-15228G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:21:0:0:8,25:247,776:20.59,0.00:11.48,0.00:9.10,0.00:0.98,0.00:0.99,0.00:0.93,0.00:40,40:56.9,12.4:0,0:0,0:62,79:89,72:44,24:NM_203458.3(NOTCH2NL) c.-44-15228G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145233753 . G . . NT END=145248812;NT GT ./. 1 145233790 rs139841356 G A 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=10;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-79544G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-79544G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-44-15023G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:10:0:0:19,30:603,1005:55.17,0.00:2.20,0.00:52.97,0.00:1.00,0.00:0.98,0.00:1.00,0.00:42,43:45.5,2.0:0,0:0,0:115,106:36,42:24,29:NM_203458.3(NOTCH2NL) c.-44-15023G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145248601 rs74819956 G C 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=202;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-64733G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-64733G>C;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-44-212G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:C,G:27:26:0:0:7,20:207,656:17.33,0.00:17.46,0.00:-0.13,0.00:0.96,0.00:1.00,0.00:0.51,0.00:33,57:59.0,4.2:0,0:0,0:57,53:94,96:33,40:NM_203458.3(NOTCH2NL) c.-44-212G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145248605 rs74374668 C G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=306;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-64729C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-64729C>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-44-208C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,G:28:27:0:0:21,7:692,206:0.00,17.11:0.00,17.23:0.00,-0.12:0.00,0.96:0.00,1.00:0.00,0.50:57,33:4.0,59.0:0,0:0,0:54,61:94,90:38,33:-,NM_203458.3(NOTCH2NL) c.-44-208C>G:-,NOT_FOUND:-,NOT_FOUND 1 145248811 rs199902817 A G 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;PC=0.998;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-64523A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-64523A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-44-2A>G;VC=SpliceSiteUTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,G:65:6:0:0:56,9:1868,287:0.00,21.65:0.00,-0.35:0.00,22.01:0.00,0.97:0.00,0.57:0.00,1.00:40,40:10.4,40.4:0,0:0,0:58,59:91,90:19,18:-,NM_203458.3(NOTCH2NL) c.-44-2A>G:-,NOT_FOUND:-,NOT_FOUND 1 145248838 rs201204854 A G 14 lc VT=SNV;PN=A;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=43;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-64496A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-64496A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.-19A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:72:5:0:0:66,6:1873,196:0.00,13.51:0.00,-0.19:0.00,13.70:0.00,0.79:0.00,0.35:0.00,0.98:40,40:14.3,37.7:0,0:0,0:72,63:78,87:24,28:-,NM_203458.3(NOTCH2NL) c.-19A>G:-,NOT_FOUND:-,NOT_FOUND 1 145248895 . G . . NT END=145273184;NT GT ./. 1 145272908 . C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-40426C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-40426C>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.39-277C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,G,T:22:22:0:0:15,1,6:457,13,169:0.00,0.25,14.31:0.00,0.25,14.31:0.00,0.00,0.00:0.00,0.00,0.93:0.00,0.00,0.93:0.00,0.00,0.00:43,3,33:27.9,43.0,74.3:0,0,0:0,0,0:19,150,31:114,1,119:18,0,23:-,NM_203458.3(NOTCH2NL) c.39-277C>T:-,NOT_FOUND:-,NOT_FOUND 1 145272956 rs139976190 C A 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=193;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-40378C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-40378C>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.39-229C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:44:44:0:0:10,34:328,1047:27.34,0.00:27.39,0.00:-0.06,0.00:0.99,0.00:0.99,0.00:0.49,0.00:42,43:62.2,16.5:0,0:0,0:55,35:94,116:26,26:NM_203458.3(NOTCH2NL) c.39-229C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145273064 rs200835365 C A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=106;DB;DBA=NA;PAF=NA;NP=296;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-40270C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-40270C>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.39-121C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,C,G,T:106:105:0:0:12,91,2,1:330,2841,21,18:22.74,0.00,-0.37,0.07:22.87,0.00,-0.35,0.08:-0.13,0.00,-0.02,-0.01:0.99,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.39,0.00,0.00,0.00:60,43,27,40:51.7,19.6,58.0,208.0:0,1,0,0:0,0,0,0:45,52,43,46:106,99,108,105:34,40,19,0:NM_203458.3(NOTCH2NL) c.39-121C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145273302 rs201646101 A G 252 lc VT=SNV;PN=G;NN=T;SST=Single;DP=830;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-40032A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-40032A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.156A>G;ProtCh=p.R52=;VC=Silent;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:830:637:0:0:722,2,104,2:23215,22,3375,20:0.00,-0.56,251.55,-0.58:0.00,-0.35,148.72,-0.34:0.00,-0.21,102.83,-0.24:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,52,52,55:8.3,44.0,66.0,160.0:0,0,0,0:0,0,0,0:72,71,47,86:75,80,99,59:30,67,28,32:-,NM_203458.3(NOTCH2NL) c.156A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 145273345 rs75987820 T C 276 lc VT=SNV;PN=A;NN=C;SST=Single;DP=931;DB;DBA=NA;PAF=NA;PC=0.849;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-39989T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-39989T>C;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.199T>C;ProtCh=p.S67P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:931:573:0:0:116,1,814:3724,13,26045:276.10,-0.33,0.00:130.61,-0.16,0.00:145.49,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,51,60:67.4,212.0,8.6:0,0,0:0,0,0:77,8,86:72,143,61:34,0,37:NM_203458.3(NOTCH2NL) c.199T>C (p.Ser67Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 145273431 rs17421312 A G 309 lc VT=SNV;PN=A;NN=G;SST=Single;DP=740;DB;DBA=NA;PAF=NA;PC=0.020;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-39903A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-39903A>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.285A>G;ProtCh=p.Q95=;VC=Silent;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:740:347:0:0:620,120:20451,3939:0.00,308.86:0.00,105.85:0.00,203.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.4,37.5:1,0:0,0:83,89:64,59:29,25:-,NM_203458.3(NOTCH2NL) c.285A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 145273445 . G . . NT END=145281368;NT GT ./. 1 145273473 rs61813225 T C 191 nt VT=SNV;PN=T;NN=C;SST=Single;DP=573;DB;DBA=NA;PAF=NA;NP=3080;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-39861T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-39861T>C;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.298+29T>C;VC=Intron;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:573:228:0:0:82,2,489:2538,23,15593:191.25,-0.54,0.00:61.14,-0.13,0.00:130.12,-0.40,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,51,57:48.6,44.0,17.6:0,0,0:0,0,0:96,106,107:49,45,40:26,12,25:NM_203458.3(NOTCH2NL) c.298+29T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145273520 rs2793994 G A 248 nt VT=SNV;PN=T;NN=T;SST=Single;DP=320;DB;DBA=NA;PAF=NA;NP=3441;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-39814G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-39814G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.298+76G>A;VC=Intron;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:320:73:0:0:91,1,228:2876,18,7489:248.23,-0.11,0.00:34.27,-0.05,0.00:213.96,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,42,44:39.5,97.0,15.9:0,0,0:0,0,0:103,103,105:46,48,45:36,0,30:NM_203458.3(NOTCH2NL) c.298+76G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145273701 rs200930767 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=156;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-39633C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-39633C>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.298+257C>T;VC=Intron;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:37:2:0:0:32,5:893,167:0.00,12.75:0.00,-0.09:0.00,12.85:0.00,0.77:0.00,0.38:0.00,0.98:60,44:23.1,37.8:0,0:0,0:107,73:44,78:35,21:-,NM_203458.3(NOTCH2NL) c.298+257C>T:-,NOT_FOUND:-,NOT_FOUND 1 145273703 rs10910780 C T 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=307;PC=0.014;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-39631C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-39631C>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.298+259C>T;VC=Intron;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:2:0:0:27,8:858,245:0.00,20.15:0.00,1.51:0.00,18.65:0.00,0.98:0.00,0.50:0.00,1.00:60,57:20.2,35.1:0,0:0,0:101,92:50,58:43,44:-,NM_203458.3(NOTCH2NL) c.298+259C>T:-,NOT_FOUND:-,NOT_FOUND 1 145281047 . CAGTG C 13 nt VT=DEL;SST=Single;DP=11;NP=14;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-32284_5358-32281delTGAG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-32284_2584-32281delTGAG;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.299-319_299-316delTGAG;VC=Intron;DM=NOTCH2NL/EGF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:CAGTG,C:11:11:0:5:6,5:201,144:0.00,13.49:0.00,13.49:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:42,40:2.8,11.8:0,0:0,0:28,12:123,135:5,3:-,NM_203458.3(NOTCH2NL) c.299-321_299-318delAGTG:-,NOT_FOUND:-,NOT_FOUND 1 145281203 rs147993620 G A 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=1370;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-32131G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-32131G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.299-166G>A;VC=Intron;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:59:0:0:22,37:617,1145:55.22,0.00:55.22,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:42,42:40.8,12.5:0,0:0,0:85,40:65,110:38,33:NM_203458.3(NOTCH2NL) c.299-166G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145281247 rs74721027 T A 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=2874;PC=0.082;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-32087T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-32087T>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.299-122T>A;VC=Intron;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:105:105:0:0:24,1,80:768,11,2367:63.89,-0.22,0.00:63.89,-0.22,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:42,27,43:35.5,240.0,13.3:0,0,0:0,0,0:26,10,34:124,141,116:18,0,26:NM_203458.3(NOTCH2NL) c.299-122T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145281361 rs147539840 TC T 81 nt VT=DEL;SST=Single;DP=367;DB;DBA=NA;PAF=NA;NP=2138;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31971delC;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31971delC;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.299-6delC;VC=Intron;DM=NOTCH2NL/EGF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TC,T:367:332:0:37:1,329,37:17,10131,1150:-0.27,0.00,81.04:-0.17,0.00,67.98:-0.10,0.00,13.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:47,60,60:246.0,12.0,32.3:0,0,0:0,0,0:72,53,45:79,93,94:0,31,28:-,NM_203458.3(NOTCH2NL) c.299-7delC:-,NOT_FOUND:-,NOT_FOUND 1 145281408 rs201164506 C T 131 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=522;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31926C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31926C>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.338C>T;ProtCh=p.P113L;VC=Missense;DM=NOTCH2NL/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:522:439:0:0:3,463,1,55:33,14512,5,1804:-0.97,0.00,-0.40,130.73:-0.68,0.00,-0.27,99.82:-0.29,0.00,-0.13,30.91:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:51,60,46,60:121.0,9.6,180.0,36.9:0,0,0,0:0,0,0,0:80,55,55,53:70,90,88,84:3,30,0,26:-,NM_203458.3(NOTCH2NL) c.338C>T (p.Pro113Leu):-,NOT_FOUND:-,NOT_FOUND 1 145281543 rs8002 C T 510 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=700;DB;DBA=NA;PAF=NA;PC=0.169;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31791C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31791C>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.473C>T;ProtCh=p.T158I;VC=Missense;DM=NOTCH2NL/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:700:438:0:0:1,512,187:10,16480,5972:-0.21,0.00,510.18:-0.10,0.00,222.59:-0.11,0.00,287.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,60:20.0,11.2,37.5:0,0,0:0,0,0:132,87,81:18,61,65:0,32,31:-,NM_203458.3(NOTCH2NL) c.473C>T (p.Thr158Ile):-,NOT_FOUND:-,NOT_FOUND 1 145281613 rs12120756 C A 131 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=598;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31721C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31721C>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.543C>A;ProtCh=p.S181R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:598:300:0:0:61,535,2:1869,17261,17:130.95,0.00,-0.65:37.70,0.00,-0.21:93.25,0.00,-0.44:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:54,60,52:90.0,11.7,54.5:0,0,0:0,0,0:78,91,54:71,59,97:33,35,14:NM_203458.3(NOTCH2NL) c.543C>A (p.Ser181Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 145281633 rs28576333 C A 121 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=545;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31701C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31701C>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.563C>A;ProtCh=p.P188H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:545:253:0:0:55,489,1:1719,15129,11:121.00,0.00,-0.40:40.51,0.00,-0.10:80.50,0.00,-0.29:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:54,60,42:97.0,11.6,90.0:0,0,0:0,0,0:91,82,39:59,65,112:27,36,0:NM_203458.3(NOTCH2NL) c.563C>A (p.Pro188His),-:NOT_FOUND,-:NOT_FOUND,- 1 145281656 rs4649852 A T 131 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=503;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31678A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31678A>T;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.586A>T;ProtCh=p.T196S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:503:203:0:0:448,1,54:14008,7,1798:0.00,-0.38,131.26:0.00,-0.10,35.86:0.00,-0.28,95.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,50,54:11.1,7.0,99.3:0,0,0:0,0,0:89,150,98:56,1,47:32,0,32:-,NM_203458.3(NOTCH2NL) c.586A>T (p.Thr196Ser):-,NOT_FOUND:-,NOT_FOUND 1 145281705 . G . . NT END=145281954;NT GT ./. 1 145281780 rs190671398 T A 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=1828;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31554T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31554T>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.634+76T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:A,T:154:37:0:0:17,137:518,4268:36.91,0.00:2.79,0.00:34.12,0.00:1.00,0.00:0.95,0.00:1.00,0.00:54,53:63.0,12.6:0,0:0,0:113,105:38,46:26,34:NM_203458.3(NOTCH2NL) c.634+76T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145281824 . T G 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=113;PC=0.234;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31510T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31510T>G;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.634+120T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:113:38:0:0:17,96:533,2953:40.65,0.00:23.04,0.00:17.61,0.00:1.00,0.00:0.99,0.00:1.00,0.00:53,51:49.2,13.5:0,0:0,0:57,72:93,78:21,38:NM_203458.3(NOTCH2NL) c.634+120T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145282032 . A . . NT END=145414781;NT GT ./. 1 145282093 rs199946317 G A 80 nt VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=2699;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-31241G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-31241G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.*62G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:14:0:0:25,38:868,1170:80.37,0.00:5.18,0.00:75.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:43.9,6.8:0,0:0,0:106,114:44,35:25,21:NM_203458.3(NOTCH2NL) c.*62G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145284122 rs373102991 ATATGTGTG A 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=20;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-29210_5358-29203delATGTGTGT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-29210_2584-29203delATGTGTGT;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.*2093_*2100delATGTGTGT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:ATATGTGTG,A:4:4:0:3:1,3:32,94:0.00,9.85:0.00,10.15:0.00,-0.30:0.00,0.85:0.00,0.85:0.00,0.83:21,51:0.0,48.0:0,0:0,0:63,29:43,103:0,17:-,NM_203458.3(NOTCH2NL) c.*2093_*2100delATGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 145284170 rs61814565 G A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=16;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-29164G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-29164G>A;VC=Intron;Gene=NOTCH2NL/NM_203458.4/1;CC=c.*2139G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:3:0:0:3,1:72,34:7.57,0.00:8.17,0.00:-0.60,0.00:0.85,0.00:0.99,0.00:0.83,0.00:51,21:48.0,41.0:0,0:0,0:69,101:63,26:17,0:NM_203458.3(NOTCH2NL) c.*2139G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145290756 rs12064726 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=50;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-22578G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-22578G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:7:7:0:0:4,3:137,98:13.53,0.00:10.22,0.00:3.32,0.00:0.90,0.00:0.90,0.00:0.97,0.00:58,60:111.8,0.0:0,0:0,0:55,36:95,115:28,6:NM_001039703.4(NBPF10) c.-35-u2615G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145290818 rs2746746 C G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-22516C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-22516C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,G:7:6:0:0:3,4:95,125:0.00,12.33:0.00,7.20:0.00,5.13:0.00,0.90:0.00,0.99:0.00,0.97:60,60:0.0,131.2:0,0:0,0:104,80:47,70:12,9:-,NM_001039703.4(NBPF10) c.-35-u2553C>G:-,NOT_FOUND:-,NOT_FOUND 1 145290819 rs4659318 G A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=595;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-22515G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-22515G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:7:6:0:0:4,3:125,80:12.37,0.00:8.38,0.00:3.98,0.00:0.90,0.00:0.99,0.00:0.97,0.00:60,60:129.2,0.0:0,0:0,0:90,99:61,52:11,34:NM_001039703.4(NBPF10) c.-35-u2552G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145290874 rs2746745 C T 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-22460C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-22460C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:5:3:0:0:1,4:33,123:0.00,13.12:0.00,6.11:0.00,7.01:0.00,0.96:0.00,0.99:0.00,0.99:60,60:0.0,131.2:0,0:0,0:120,136:31,14:0,9:-,NM_001039703.4(NBPF10) c.-35-u2497C>T:-,NOT_FOUND:-,NOT_FOUND 1 145291576 rs2596049 C T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21758C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21758C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T:15:14:0:0:12,3:353,102:0.00,8.38:0.00,8.62:0.00,-0.24:0.00,0.55:0.00,0.92:0.00,0.60:60,60:6.2,120.7:0,0:0,0:38,43:113,108:24,4:-,NM_001039703.4(NBPF10) c.-35-u1795C>T:-,NOT_FOUND:-,NOT_FOUND 1 145291586 rs60747373 A G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=544;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21748A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21748A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:19:17:0:0:16,3:516,93:0.00,7.14:0.00,7.36:0.00,-0.22:0.00,0.51:0.00,0.89:0.00,0.51:60,58:4.5,141.7:0,0:0,0:27,49:122,101:21,45:-,NM_001039703.4(NBPF10) c.-35-u1785A>G:-,NOT_FOUND:-,NOT_FOUND 1 145291615 rs11377537 T TA 68 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=282;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21719_5358-21718insA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21719_2584-21718insA;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:TA:18:15:18:0:18:599:68.48:49.40:19.08:1.00:1.00:1.00:60:30.3:0:0:55:95:23:NM_001039703.4(NBPF10) c.-35-u1756_-35-u1755insA,NM_001039703.4(NBPF10) c.-35-u1756_-35-u1755insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145291623 rs74728070 G C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=703;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21711G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21711G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:C,G:20:16:0:0:5,15:172,495:14.71,0.00:15.46,0.00:-0.75,0.00:0.85,0.00:0.75,0.00:0.87,0.00:60,60:112.0,3.5:0,0:0,0:42,63:109,87:38,23:NM_001039703.4(NBPF10) c.-35-u1748G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145291718 rs79269675 A T 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21616A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21616A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,C,T:28:19:0:0:21,1,6:651,9,196:0.00,-0.10,16.25:0.00,0.04,9.38:0.00,-0.14,6.88:0.00,0.00,0.91:0.00,0.00,0.97:0.00,0.00,0.56:60,60,60:13.7,144.0,87.0:0,0,0:0,0,0:83,66,42:67,83,108:27,0,38:-,NM_001039703.4(NBPF10) c.-35-u1653A>T:-,NOT_FOUND:-,NOT_FOUND 1 145291791 rs200501517 C T 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21543C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21543C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,G,T:42:31:0:0:34,1,7:1136,12,237:0.00,-0.05,18.90:0.00,0.02,3.88:0.00,-0.06,15.03:0.00,0.00,0.94:0.00,0.00,0.99:0.00,0.00,0.81:60,60,60:16.1,111.0,80.0:0,0,0:0,0,0:45,134,77:105,17,52:24,0,11:-,NM_001039703.4(NBPF10) c.-35-u1580C>T:-,NOT_FOUND:-,NOT_FOUND 1 145291823 rs139481471 C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=681;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21511C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21511C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,T:42:34:0:0:36,6:1104,193:0.00,14.69:0.00,4.22:0.00,10.47:0.00,0.87:0.00,0.98:0.00,0.66:60,60:18.9,82.2:0,0:0,0:61,106:87,20:23,5:-,NM_001039703.4(NBPF10) c.-35-u1548C>T:-,NOT_FOUND:-,NOT_FOUND 1 145291994 rs111314927 C G 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=185;DB;DBA=NA;PAF=NA;NP=5;PC=0.038;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21340C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21340C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,G:185:148:0:0:170,15:5757,488:0.00,33.37:0.00,27.21:0.00,6.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,121.6:0,0:0,0:69,31:75,120:33,21:-,NM_001039703.4(NBPF10) c.-35-u1377C>G:-,NOT_FOUND:-,NOT_FOUND 1 145292078 rs76621293 G A 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21256G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21256G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:133:69:0:0:20,1,111,1:672,30,3678,8:52.44,1.01,0.00,-0.34:14.45,-0.13,0.00,-0.13:37.99,1.14,0.00,-0.21:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:117.3,159.0,14.7,173.0:0,0,0,0:0,0,0,0:92,50,100,35:56,99,50,103:26,0,29,0:NM_001039703.4(NBPF10) c.-35-u1293G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145292088 rs76919700 T C 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21246T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21246T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:117:55:0:0:19,98:653,3065:51.84,0.00:14.75,0.00:37.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:117.5,18.9:0,0:0,0:102,103:49,45:23,27:NM_001039703.4(NBPF10) c.-35-u1283T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145292093 . G A 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=113;NP=4;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21241G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21241G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:113:50:0:0:17,96:541,3071:41.49,0.00:11.31,0.00:30.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.1,28.7:0,0:0,0:115,112:34,38:15,21:NM_001039703.4(NBPF10) c.-35-u1278G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145292102 rs2725884 C G 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21232C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21232C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:114:41:0:0:1,97,16:11,3258,539:-0.27,0.00,41.53:-0.08,0.00,11.45:-0.18,0.00,30.08:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:57,60,60:146.0,31.1,66.8:0,0,0:0,0,0:9,107,122:134,41,29:0,27,19:-,NM_001039703.4(NBPF10) c.-35-u1269C>G:-,NOT_FOUND:-,NOT_FOUND 1 145292163 rs77229113 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21171G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21171G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:1:0:0:10,50:307,1577:23.75,0.00:-0.08,0.00:23.83,0.00:0.99,0.00:0.45,0.00:1.00,0.00:60,60:101.8,27.4:0,0:0,0:123,104:27,46:17,31:NM_001039703.4(NBPF10) c.-35-u1208G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145292324 rs6667832 G A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-21010G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-21010G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G:10:0:0:0:3,7:82,229:6.97,0.00:0.00,0.00:6.97,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:101.0,15.0:0,0:0,0:27,85:123,66:16,11:NM_001039703.4(NBPF10) c.-35-u1047G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145292866 . ATGT A 12 nt VT=DEL;SST=Single;DP=46;NP=44;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-20464_5358-20462delTGT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-20464_2584-20462delTGT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:ATGT,A:46:46:0:5:41,5:1280,165:0.00,12.02:0.00,12.02:0.00,0.00:0.00,0.74:0.00,0.74:0.00,0.00:60,51:16.5,26.6:0,0:0,0:34,39:117,111:25,38:-,NM_001039703.4(NBPF10) c.-35-u504_-35-u502delTGT:-,NOT_FOUND:-,NOT_FOUND 1 145292913 rs3926770 T G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=14;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-20421T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-20421T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:G,T:62:62:0:0:8,54:254,1721:18.92,0.00:18.92,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:40,60:61.2,15.3:0,0:0,0:75,54:72,96:23,30:NM_001039703.4(NBPF10) c.-35-u458T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145292925 rs6424351 C T 48 nt VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=141;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-20409C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-20409C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:69:69:0:0:1,51,17:10,1645,563:-0.18,0.00,47.82:-0.18,0.00,47.82:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:24,52,51:71.0,16.9,50.9:0,0,0:0,0,0:81,46,57:62,105,94:0,33,31:-,NM_001039703.4(NBPF10) c.-35-u446C>T:-,NOT_FOUND:-,NOT_FOUND 1 145293012 rs6424352 G A 132 nt VT=SNV;PN=A;NN=A;SST=Single;DP=151;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-20322G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-20322G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:137:0:0:49,102:1496,3237:131.64,0.00:113.92,0.00:17.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,23.2:0,0:0,0:40,59:111,92:19,34:NM_001039703.4(NBPF10) c.-35-u359G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145293014 rs55982087 G C 29 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=154;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-20320G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-20320G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,G:154:140:0:0:14,140:424,4564:28.89,0.00:29.95,0.00:-1.06,0.00:1.00,0.00:1.00,0.00:0.91,0.00:40,60:94.1,21.7:0,0:0,0:23,54:127,97:19,31:NM_001039703.4(NBPF10) c.-35-u357G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145293269 rs61350760 G A 88 nt VT=SNV;PN=A;NN=T;SST=Single;DP=342;DB;DBA=NA;PAF=NA;NP=706;PC=0.016;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-20065G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-20065G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:342:184:0:0:37,305:1208,9980:87.67,0.00:21.47,0.00:66.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,60:41.2,12.4:0,0:0,0:91,84:60,66:19,37:NM_001039703.4(NBPF10) c.-35-u102G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145293274 rs4525095 T G 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=339;DB;DBA=NA;PAF=NA;NP=1988;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-20060T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-20060T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:339:183:0:0:35,304:1006,9458:68.84,0.00:33.14,0.00:35.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:42.4,12.8:0,0:0,0:84,79:65,68:36,37:NM_001039703.4(NBPF10) c.-35-u97T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145293425 rs7366490 C A 100 nt VT=SNV;PN=C;NN=T;SST=Single;DP=409;DB;DBA=NA;PAF=NA;NP=3105;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19909C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19909C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.20C>A;ProtCh=p.P7H;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.20C>A;ProtCh=p.P7H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:409:279:0:0:43,363,1,2:1393,11644,9,26:100.38,0.00,-0.30,-0.56:46.96,0.00,-0.16,-0.20:53.42,0.00,-0.14,-0.36:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,57,60:100.7,16.5,78.0,120.0:0,0,0,0:0,0,0,0:79,72,42,74:67,74,109,72:24,38,0,43:NM_001039703.4(NBPF10) c.20C>A (p.Pro7His),-:NOT_FOUND,-:NOT_FOUND,- 1 145293469 rs6671324 G C 90 nt VT=SNV;PN=C;NN=A;SST=Single;DP=420;DB;DBA=NA;PAF=NA;NP=2341;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19865G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19865G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.64G>C;ProtCh=p.E22Q;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.64G>C;ProtCh=p.E22Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:420:290:0:0:38,382:1273,12189:90.14,0.00:28.30,0.00:61.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:129.3,25.4:0,0:0,0:106,61:38,86:23,34:NM_001039703.4(NBPF10) c.64G>C (p.Glu22Gln),-:NOT_FOUND,-:NOT_FOUND,- 1 145293490 rs6671335 G C 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=420;DB;DBA=NA;PAF=NA;NP=961;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19844G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19844G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.85G>C;ProtCh=p.A29P;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.85G>C;ProtCh=p.A29P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,C,G,T:420:280:0:0:1,35,383,1:34,1084,12427,9:0.87,73.17,0.00,-0.32:0.43,16.70,0.00,-0.16:0.45,56.47,0.00,-0.16:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:34.0,136.0,25.3,26.0:0,0,0,0:0,0,0,0:70,104,62,111:69,40,82,40:0,32,34,0:NM_001039703.4(NBPF10) c.85G>C (p.Ala29Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 145293498 rs4409714 G C 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=411;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19836G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19836G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.93G>C;ProtCh=p.K31N;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.93G>C;ProtCh=p.K31N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,G,T:411:262:0:0:34,376,1:1099,12473,7:75.50,0.00,-0.32:20.61,0.00,-0.16:54.88,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:135.3,26.2,121.0:0,0,0:0,0,0:88,70,99:62,74,45:45,36,0:NM_001039703.4(NBPF10) c.93G>C (p.Lys31Asn),-:NOT_FOUND,-:NOT_FOUND,- 1 145293510 rs4356110 C G 68 nt VT=SNV;PN=T;NN=A;SST=Single;DP=403;DB;DBA=NA;PAF=NA;NP=2186;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19824C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19824C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.105C>G;ProtCh=p.F35L;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.105C>G;ProtCh=p.F35L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,C,G:403:246:0:0:1,372,30:28,12245,1000:0.36,0.00,68.05:-0.15,0.00,14.24:0.50,0.00,53.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:77.0,27.8,125.1:0,0,0:0,0,0:104,74,77:42,74,73:0,32,47:-,NM_001039703.4(NBPF10) c.105C>G (p.Phe35Leu):-,NOT_FOUND:-,NOT_FOUND 1 145293515 rs12565078 A G 352 nt VT=SNV;PN=A;NN=C;SST=Single;DP=399;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19819A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19819A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.110A>G;ProtCh=p.N37S;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.110A>G;ProtCh=p.N37S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:399:244:0:0:278,121:8666,4002:0.00,351.64:0.00,165.92:0.00,185.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.7,43.7:0,0:0,0:76,87:69,60:32,34:-,NM_001039703.4(NBPF10) c.110A>G (p.Asn37Ser):-,NOT_FOUND:-,NOT_FOUND 1 145293566 rs7526045 G A 246 nt VT=SNV;PN=C;NN=A;SST=Single;DP=324;DB;DBA=NA;PAF=NA;NP=1;NP=3086;PC=0.086;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19768G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19768G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.161G>A;ProtCh=p.R54Q;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.161G>A;ProtCh=p.R54Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:324:160:0:0:90,232,2:2858,7500,20:245.96,0.00,-0.45:83.26,0.00,-0.07:162.70,0.00,-0.38:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.8,24.4,152.5:0,0,0:0,0,0:94,80,119:55,68,31:28,27,13:NM_001039703.4(NBPF10) c.161G>A (p.Arg54Gln),-:NOT_FOUND,-:NOT_FOUND,- 1 145293692 rs7526143 G A 85 nt VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19642G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19642G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.175+112G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.175+112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:107:2:0:0:30,76,1:984,2284,10:85.31,0.00,-0.21:-0.14,0.00,-0.00:85.45,0.00,-0.20:1.00,0.00,0.00:0.57,0.00,0.00:1.00,0.00,0.00:60,60,40:50.5,14.4,143.0:0,0,0:0,0,0:100,105,114:49,43,36:23,26,0:NM_001039703.4(NBPF10) c.175+112G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145293826 rs7539630 A G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-19508A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-19508A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.175+246A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.175+246A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G:20:2:0:0:16,4:467,142:0.00,11.77:0.00,1.64:0.00,10.13:0.00,0.71:0.00,0.47:0.00,0.71:60,60:15.2,85.8:0,0:0,0:101,113:49,37:18,27:-,NM_001039703.4(NBPF10) c.175+246A>G:-,NOT_FOUND:-,NOT_FOUND 1 145295539 rs3872115 A G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8976,C/0.1024,G/.;NP=247;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-17795A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-17795A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.278+14A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.278+14A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:16:0:0:16,12:510,413:0.00,38.72:0.00,10.78:0.00,27.94:0.00,1.00:0.00,1.00:0.00,1.00:60,45:17.3,61.9:0,0:0,0:99,72:51,79:24,33:-,NM_001039703.4(NBPF10) c.278+14A>G:-,NOT_FOUND:-,NOT_FOUND 1 145295541 rs145797639 A G 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=141;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-17793A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-17793A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.278+16A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.278+16A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,G,T:28:16:0:0:19,7,2:629,215,69:0.00,18.25,4.95:0.00,2.06,2.51:0.00,16.19,2.44:0.00,0.96,0.00:0.00,0.75,0.00:0.00,0.99,0.00:60,51,25:18.3,74.0,75.5:0,0,0:0,0,0:84,84,28:66,67,122:25,12,6:-,NM_001039703.4(NBPF10) c.278+16A>G:-,NOT_FOUND:-,NOT_FOUND 1 145295547 rs376242437 A AG 7 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-17785dupG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-17785dupG;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.278+24dupG;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.278+24dupG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,AG:28:16:3:0:25,3:843,100:0.00,7.29:0.00,0.94:0.00,6.36:0.00,0.44:0.00,0.74:0.00,0.85:60,51:36.4,66.3:0,0:0,0:87,87:61,64:35,1:-,NM_001039703.4(NBPF10) c.278+22_278+23insG:-,NOT_FOUND:-,NOT_FOUND 1 145295601 rs4068109 G A 11 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=67;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-17733G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-17733G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.278+76G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.278+76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:19:6:0:0:4,15:131,467:10.77,0.00:-0.31,0.00:11.07,0.00:0.72,0.00:0.73,0.00:0.72,0.00:43,60:91.0,25.1:0,0:0,0:141,120:9,30:2,21:NM_001039703.4(NBPF10) c.278+76G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145296207 rs71246524 T C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=2254;PC=0.065;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-17127T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-17127T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.279-150T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.279-150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:C,T:19:18:0:0:6,13:187,415:16.41,0.00:13.04,0.00:3.38,0.00:0.94,0.00:1.00,0.00:0.54,0.00:59,60:70.0,18.4:0,0:0,0:38,43:113,108:21,35:NM_001039703.4(NBPF10) c.279-150T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145296268 rs4996271 C G 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=2059;NP=712;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-17066C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-17066C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.279-89C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.279-89C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,G,T:38:37:0:0:16,11,11:507,340,335:0.00,30.95,30.44:0.00,26.09,30.44:0.00,4.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.58,0.00:60,59,60:21.3,84.1,59.2:0,0,0:0,0,0:19,75,43:130,76,101:16,31,21:-,NM_001039703.4(NBPF10) c.279-89C>G:-,NOT_FOUND:-,NOT_FOUND 1 145296372 rs4068113 A G 195 nt VT=SNV;PN=T;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=3422;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16962A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16962A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.294A>G;ProtCh=p.L98=;VC=Silent;Gene=NBPF10/NM_001302371.1/0;CC=c.294A>G;ProtCh=p.L98=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:83:73:0:0:23,58,2:670,1888,29:0.00,195.50,0.79:0.00,136.26,0.03:0.00,59.24,0.76:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,56,56:8.0,53.8,69.5:0,0,0:0,0,0:51,65,75:100,81,71:25,30,53:-,NM_001039703.4(NBPF10) c.294A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 145296448 rs4996268 T A 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=1970;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16886T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16886T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.370T>A;ProtCh=p.Y124N;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.370T>A;ProtCh=p.Y124N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,T:98:62:0:0:10,88:326,2708:23.36,0.00:17.15,0.00:6.21,0.00:0.98,0.00:0.99,0.00:0.99,0.00:28,60:63.8,42.3:0,0:0,0:38,78:111,70:13,38:NM_001039703.4(NBPF10) c.370T>A (p.Tyr124Asn),-:NOT_FOUND,-:NOT_FOUND,- 1 145296478 rs6663523 G T 146 nt VT=SNV;PN=G;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16856G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16856G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.400G>T;ProtCh=p.D134Y;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.400G>T;ProtCh=p.D134Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:93:52:0:0:44,49:1370,1510:0.00,146.37:0.00,68.06:0.00,78.31:0.00,1.00:0.00,1.00:0.00,1.00:60,53:33.9,53.0:0,0:0,0:68,78:81,69:27,33:-,NM_001039703.4(NBPF10) c.400G>T (p.Asp134Tyr):-,NOT_FOUND:-,NOT_FOUND 1 145296654 rs4068117 G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16680G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16680G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.493+83G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.493+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G,T:47:9:0:0:6,40,1:178,1325,11:12.97,0.00,-0.14:2.49,0.00,0.19:10.49,0.00,-0.32:0.86,0.00,0.00:0.65,0.00,0.00:0.98,0.00,0.00:55,60,40:35.8,25.1,11.0:0,0,0:0,0,0:82,90,150:68,60,1:28,38,0:NM_001039703.4(NBPF10) c.493+83G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145296675 rs199792864 A G 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=40;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16659A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16659A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.493+104A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.493+104A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:41:4:0:0:33,8:1012,261:0.00,21.14:0.00,2.28:0.00,18.86:0.00,0.97:0.00,0.59:0.00,1.00:60,24:12.5,97.8:0,0:0,0:83,55:67,95:39,20:-,NM_001039703.4(NBPF10) c.493+104A>G:-,NOT_FOUND:-,NOT_FOUND 1 145296682 rs4068118 C A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=201;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16652C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16652C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.493+111C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.493+111C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,C,G:40:3:0:0:6,33,1:202,1111,11:15.79,0.00,-0.10:-0.14,0.00,-0.02:15.93,0.00,-0.08:0.88,0.00,0.00:0.44,0.00,0.00:0.99,0.00,0.00:24,60,22:100.0,16.8,112.0:0,0,0:0,0,0:50,90,84:99,61,67:23,39,0:NM_001039703.4(NBPF10) c.493+111C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145296698 rs112138856 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=235;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16636T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16636T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.493+127T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.493+127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:36:3:0:0:7,29:193,916:14.97,0.00:-0.19,0.00:15.16,0.00:0.94,0.00:0.52,0.00:1.00,0.00:47,60:101.9,18.6:0,0:0,0:74,91:75,60:37,27:NM_001039703.4(NBPF10) c.493+127T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145296701 rs199739656 T C 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=295;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-16633T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-16633T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.493+130T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.493+130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,T:34:2:0:0:3,31:102,952:7.23,0.00:-0.04,0.00:7.27,0.00:0.40,0.00:0.31,0.00:0.40,0.00:22,60:92.3,31.5:0,0:0,0:62,92:88,59:1,23:NM_001039703.4(NBPF10) c.493+130T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145297400 rs4068105 G A 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15934G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15934G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.494-219G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.494-219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:16,8:534,233:54.41,0.00:54.41,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,43:46.3,16.9:0,0:0,0:47,70:102,80:30,30:NM_001039703.4(NBPF10) c.494-219G>A,-:0.21,-:NOT_FOUND,- 1 145297458 rs4068107 G C 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=1927;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15876G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15876G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.494-161G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.494-161G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:65:65:0:0:20,45:668,1468:58.93,0.00:59.01,0.00:-0.08,0.00:1.00,0.00:1.00,0.00:0.54,0.00:40,43:47.8,12.5:0,0:0,0:19,38:131,113:16,28:NM_001039703.4(NBPF10) c.494-161G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145297593 rs2863932 T C 71 nt VT=SNV;PN=A;NN=C;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=1;NP=848;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15741T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15741T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.494-26T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.494-26T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:145:101:0:0:28,117:888,3695:71.30,0.00:41.84,0.00:29.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,19.1:0,0:0,0:79,78:64,61:28,36:NM_001039703.4(NBPF10) c.494-26T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145297615 rs4068081 C A 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=NA;PC=0.048;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15719C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15719C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.494-4C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.494-4C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:141:72:0:0:30,110,1:900,3669,12:72.76,0.00,-0.22:4.55,0.00,-0.03:68.21,0.00,-0.19:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,60,40:73.6,12.5,48.0:0,0,0:0,0,0:63,81,127:84,65,24:26,35,0:NM_001039703.4(NBPF10) c.494-4C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145297661 rs4068083 C A 58 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15673C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15673C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.536C>A;ProtCh=p.A179D;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.536C>A;ProtCh=p.A179D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:117:50:0:0:24,93:725,3123:58.23,0.00:-0.65,0.00:58.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:88.0,13.0:0,0:0,0:88,75:58,75:17,33:NM_001039703.4(NBPF10) c.536C>A (p.Ala179Asp),-:NOT_FOUND,-:NOT_FOUND,- 1 145297817 rs4068088 G C 87 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=3321;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15517G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15517G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.566+126G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.566+126G>C;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:38:11:0:0:25,13:854,424:86.72,0.00:19.92,0.00:66.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:45.3,4.8:0,0:0,0:102,95:49,54:32,38:NM_001039703.4(NBPF10) c.566+126G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145297890 rs4068089 G A 59 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=1530;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15444G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15444G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.566+199G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.566+199G>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:16:0:0:19,11:582,358:58.67,0.00:33.83,0.00:24.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:53.5,12.3:0,0:0,0:56,63:94,86:47,39:NM_001039703.4(NBPF10) c.566+199G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145297932 rs9424704 T C 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=150;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15402T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15402T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.567-223T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.567-223T>C;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,C,T:43:36:0:0:1,5,37:7,167,1154:-0.28,12.43,0.00:-0.21,12.80,0.00:-0.07,-0.37,0.00:0.00,0.75,0.00:0.00,0.96,0.00:0.00,0.54,0.00:11,55,60:64.0,33.4,21.1:0,0,0:0,0,0:51,21,43:99,130,108:0,15,27:NM_001039703.4(NBPF10) c.567-223T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145297987 rs4068090 G C 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=11;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15347G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15347G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.567-168G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.567-168G>C;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:C,G:98:94:0:0:8,90:266,2736:18.40,0.00:18.55,0.00:-0.15,0.00:0.92,0.00:1.00,0.00:0.30,0.00:42,60:121.9,28.1:0,0:0,0:39,41:111,110:12,27:NM_001039703.4(NBPF10) c.567-168G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145298070 rs12068486 G A 231 nt VT=SNV;PN=C;NN=C;SST=Single;DP=206;DB;DBA=NA;PAF=NA;NP=2352;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15264G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15264G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.567-85G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.567-85G>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:206:196:0:0:78,126,2:2527,3531,25:231.17,0.00,-0.20:213.04,0.00,-0.31:18.14,0.00,0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:55,58,58:38.2,43.8,61.5:0,0,0:0,0,0:59,59,80:90,92,69:29,34,60:NM_001039703.4(NBPF10) c.567-85G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145298089 rs28605822 G T 207 nt VT=SNV;PN=G;NN=A;SST=Single;DP=228;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15245G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15245G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.567-66G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.567-66G>T;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:228:208:0:0:1,152,75:12,4683,2340:-0.19,0.00,207.32:-0.21,0.00,192.93:0.02,0.00,14.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,58,56:108.0,31.3,51.6:0,0,0:0,0,0:9,53,70:142,98,81:0,35,30:-,NM_001039703.4(NBPF10) c.567-66G>T:-,NOT_FOUND:-,NOT_FOUND 1 145298186 rs28507779 C G 352 nt VT=SNV;PN=C;NN=C;SST=Single;DP=404;DB;DBA=NA;PAF=NA;NP=2;NP=3269;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15148C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15148C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.598C>G;ProtCh=p.P200A;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.598C>G;ProtCh=p.P200A;VC=Missense;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:404:268:0:0:281,123:8755,4014:0.00,352.33:0.00,179.14:0.00,173.19:0.00,1.00:0.00,1.00:0.00,1.00:42,42:15.5,43.4:0,0:0,0:63,52:86,97:29,22:-,NM_001039703.4(NBPF10) c.598C>G (p.Pro200Ala):-,NOT_FOUND:-,NOT_FOUND 1 145298281 rs201797121 T C 99 nt VT=SNV;PN=T;NN=G;SST=Single;DP=323;DB;DBA=NA;PAF=NA;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-15053T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-15053T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.693T>C;ProtCh=p.F231=;VC=Silent;Gene=NBPF10/NM_001302371.1/0;CC=c.693T>C;ProtCh=p.F231=;VC=Silent;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:323:125:0:0:2,42,1,278:35,1326,11,8991:0.09,98.74,-0.32,0.00:0.57,29.20,-0.05,0.00:-0.47,69.54,-0.28,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:24,42,40,42:17.5,44.0,32.0,16.6:0,0,0,0:0,0,0,0:103,117,7,96:48,33,144,54:15,25,0,34:NM_001039703.4(NBPF10) c.693T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 145298363 rs200081155 C T 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=NA;PC=0.137;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-14971C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-14971C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.775C>T;ProtCh=p.P259S;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.775C>T;ProtCh=p.P259S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:19:0:0:137,19:4208,554:0.00,39.46:0.00,-1.07:0.00,40.52:0.00,1.00:0.00,0.84:0.00,1.00:40,25:8.2,63.4:0,0:0,0:99,126:52,25:29,13:-,NM_001039703.4(NBPF10) c.775C>T (p.Pro259Ser):-,NOT_FOUND:-,NOT_FOUND 1 145298473 rs28702950 A G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=305;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-14861A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-14861A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.778+107A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.778+107A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:39:1:0:0:33,6:1105,171:0.00,12.70:0.00,-0.04:0.00,12.73:0.00,0.88:0.00,0.44:0.00,0.88:52,50:15.9,65.2:0,0:0,0:54,30:97,117:34,6:-,NM_001039703.4(NBPF10) c.778+107A>G:-,NOT_FOUND:-,NOT_FOUND 1 145298604 rs608262 T C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.032;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-14730T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-14730T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.778+238T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.778+238T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:1:0:0:7,14:236,424:21.15,0.00:-0.09,0.00:21.23,0.00:0.97,0.00:0.56,0.00:0.97,0.00:55,57:59.0,35.3:0,0:0,0:100,60:50,71:29,44:NM_001039703.4(NBPF10) c.778+238T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145298634 rs61814625 C T 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-14700C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-14700C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.778+268C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.778+268C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:1:0:0:8,9:216,290:0.00,28.26:0.00,-0.16:0.00,28.42:0.00,1.00:0.00,0.69:0.00,1.00:56,57:37.8,58.7:0,0:0,0:57,101:79,49:17,29:-,NM_001039703.4(NBPF10) c.778+268C>T:-,NOT_FOUND:-,NOT_FOUND 1 145299533 rs3872122 C T 13 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13801C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13801C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.779-197C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.779-197C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,T:27:27:0:0:22,5:691,161:0.00,12.87:0.00,12.87:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:49,22:9.1,81.8:0,0:0,0:59,3:90,148:28,2:-,NM_001039703.4(NBPF10) c.779-197C>T:-,0.04:-,NOT_FOUND 1 145299636 rs200598598 A G 139 nt VT=SNV;PN=A;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=65;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13698A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13698A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.779-94A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.779-94A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:121:120:0:0:76,45:2413,1523:0.00,139.07:0.00,137.45:0.00,1.62:0.00,1.00:0.00,1.00:0.00,0.67:49,40:11.2,48.1:0,0:0,0:49,74:101,77:34,28:-,NM_001039703.4(NBPF10) c.779-94A>G:-,NOT_FOUND:-,NOT_FOUND 1 145299758 rs587650292 C T 87 nt VT=SNV;PN=A;NN=G;SST=Single;DP=317;DB;DBA=NA;PAF=NA;NP=1;NP=129;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13576C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13576C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.807C>T;ProtCh=p.N269=;VC=Silent;Gene=NBPF10/NM_001302371.1/0;CC=c.807C>T;ProtCh=p.N269=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:317:251:0:0:1,278,3,35:10,8981,33,1175:-0.33,0.00,-0.74,86.62:-0.19,0.00,-0.43,27.59:-0.14,0.00,-0.31,59.03:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,42,25,40:50.0,18.0,36.7,48.1:0,0,0,0:0,0,0,0:41,70,58,44:105,81,93,107:0,32,1,26:-,NM_001039703.4(NBPF10) c.807C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 145299824 rs9424711 C G 101 nt VT=SNV;PN=T;NN=A;SST=Single;DP=349;DB;DBA=NA;PAF=NA;NP=2234;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13510C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13510C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.873C>G;ProtCh=p.I291M;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.873C>G;ProtCh=p.I291M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:349:185:0:0:1,307,41:17,10282,1360:-0.24,0.00,100.91:-0.16,0.00,20.10:-0.09,0.00,80.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,56,42:118.0,20.9,62.5:0,0,0:0,0,0:47,83,98:104,66,53:0,32,20:-,NM_001039703.4(NBPF10) c.873C>G (p.Ile291Met):-,NOT_FOUND:-,NOT_FOUND 1 145299894 rs201650661 C G 64 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=252;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13440C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13440C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.943C>G;ProtCh=p.L315V;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.943C>G;ProtCh=p.L315V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:252:85:0:0:224,28:7373,890:0.00,64.27:0.00,-1.83:0.00,66.10:0.00,1.00:0.00,1.00:0.00,1.00:60,40:18.6,81.7:0,0:0,0:87,136:60,12:33,4:-,NM_001039703.4(NBPF10) c.943C>G (p.Leu315Val):-,NOT_FOUND:-,NOT_FOUND 1 145299906 rs199863138 T G 149 nt VT=SNV;PN=G;NN=C;SST=Single;DP=206;DB;DBA=NA;PAF=NA;NP=849;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13428T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13428T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.955T>G;ProtCh=p.S319A;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.955T>G;ProtCh=p.S319A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:206:70:0:0:1,53,152:9,1745,4667:-0.29,148.95,0.00:-0.10,7.70,0.00:-0.19,141.26,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,40,60:52.0,77.2,6.1:0,0,0:0,0,0:67,131,81:84,19,61:0,18,28:NM_001039703.4(NBPF10) c.955T>G (p.Ser319Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 145299925 rs376889523 A G 56 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13409A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13409A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.974A>G;ProtCh=p.Q325R;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.974A>G;ProtCh=p.Q325R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:174:61:0:0:151,23:4785,744:0.00,56.03:0.00,-2.10:0.00,58.13:0.00,1.00:0.00,1.00:0.00,1.00:60,40:9.4,76.3:0,0:0,0:98,75:47,76:27,30:-,NM_001039703.4(NBPF10) c.974A>G (p.Gln325Arg):-,NOT_FOUND:-,NOT_FOUND 1 145300087 rs7544347 A G 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13247A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13247A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.988+148A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.988+148A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:0:0:0:14:448:51.43:0.00:51.43:1.00:0.00:1.00:40:76.5:0:0:103:46:13:NM_001039703.4(NBPF10) c.988+148A>G,NM_001039703.4(NBPF10) c.988+148A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 145300096 rs9424712 T C 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.01997,A/0.98;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-13238T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-13238T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.988+157T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.988+157T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:443:50.50:0.00:50.50:1.00:0.00:1.00:40:80.0:0:0:106:42:18:NM_001039703.4(NBPF10) c.988+157T>C,NM_001039703.4(NBPF10) c.988+157T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 145301651 rs202030598 T C 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1668;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11683T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11683T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.989-69T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.989-69T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C,T:13:13:0:0:1,3,9:10,107,265:0.16,9.20,0.00:0.20,9.31,0.00:-0.03,-0.11,0.00:0.00,0.58,0.00:0.00,0.58,0.00:0.00,0.51,0.00:40,40,52:102.0,46.7,17.4:0,0,0:0,0,0:31,39,26:120,111,115:0,17,16:NM_001039703.4(NBPF10) c.989-69T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145301697 rs61814640 C T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=3272;PC=0.077;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11637C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11637C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.989-23C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.989-23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:21:19:0:0:16,5:507,155:0.00,12.89:0.00,8.96:0.00,3.93:0.00,0.85:0.00,0.98:0.00,0.82:55,52:23.2,46.6:0,0:0,0:35,63:115,82:31,7:-,NM_001039703.4(NBPF10) c.989-23C>T:-,NOT_FOUND:-,NOT_FOUND 1 145301793 rs5020524 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.018;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11541A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11541A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1062A>G;ProtCh=p.A354=;VC=Silent;Gene=NBPF10/NM_001302371.1/0;CC=c.1062A>G;ProtCh=p.A354=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,G:40:28:0:0:34,6:1173,192:0.00,14.72:0.00,6.92:0.00,7.80:0.00,0.88:0.00,0.96:0.00,0.94:59,51:23.7,100.8:0,0:0,0:72,64:70,86:21,17:-,NM_001039703.4(NBPF10) c.1062A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 145301802 rs6690575 C G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11532C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11532C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1071C>G;ProtCh=p.L357=;VC=Silent;Gene=NBPF10/NM_001302371.1/0;CC=c.1071C>G;ProtCh=p.L357=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,G:40:28:0:0:34,6:1176,198:0.00,15.32:0.00,6.86:0.00,8.47:0.00,0.88:0.00,0.96:0.00,0.95:59,51:25.4,100.8:0,0:0,0:85,73:59,77:22,17:-,NM_001039703.4(NBPF10) c.1071C>G (p.(=)):-,0.22:-,NOT_FOUND 1 145301831 rs201470840 A G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11503A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11503A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1091+9A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1091+9A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,G:37:24:0:0:34,3:1050,107:0.00,7.61:0.00,2.36:0.00,5.25:0.00,0.38:0.00,0.75:0.00,0.76:59,51:27.7,156.7:0,0:0,0:103,106:44,44:17,21:-,NM_001039703.4(NBPF10) c.1091+9A>G:-,NOT_FOUND:-,NOT_FOUND 1 145301836 rs199836609 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11498A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11498A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1091+14A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1091+14A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,G:35:21:0:0:32,3:1053,102:0.00,7.19:0.00,0.83:0.00,6.36:0.00,0.88:0.00,0.74:0.00,0.76:59,51:29.2,156.7:0,0:0,0:107,111:41,39:17,21:-,NM_001039703.4(NBPF10) c.1091+14A>G:-,NOT_FOUND:-,NOT_FOUND 1 145301853 rs4068074 C G 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.1296,A/.,C/0.8704,T/.;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11481C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11481C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1091+31C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1091+31C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:32:17:0:0:14,18:452,516:0.00,50.59:0.00,13.71:0.00,36.88:0.00,1.00:0.00,1.00:0.00,1.00:59,51:10.0,77.1:0,0:0,0:111,119:37,30:14,24:-,NM_001039703.4(NBPF10) c.1091+31C>G:-,NOT_FOUND:-,NOT_FOUND 1 145301887 rs6683593 G A 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1;NP=2551;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11447G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11447G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1091+65G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1091+65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:21:7:0:0:3,18:105,529:8.20,0.00:1.26,0.00:6.93,0.00:0.49,0.00:0.62,0.00:0.88,0.00:53,59:131.0,31.4:0,0:0,0:42,85:100,55:0,47:NM_001039703.4(NBPF10) c.1091+65G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145301907 rs6697832 A C 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.5202,G/0.4798;NP=2858;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-11427A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-11427A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1091+85A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1091+85A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,C,G:17:3:0:0:13,3,1:420,102,35:0.00,8.28,2.41:0.00,1.48,-0.03:0.00,6.80,2.43:0.00,0.53,0.00:0.00,0.49,0.00:0.00,0.53,0.00:59,53,25:13.8,141.7,270.0:0,0,0:0,0,0:78,62,135:62,89,16:35,0,0:-,NM_001039703.4(NBPF10) c.1091+85A>C:-,NOT_FOUND:-,NOT_FOUND 1 145302505 rs61814644 G C 81 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.02157,C/0.9784;PC=0.053;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-10829G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-10829G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1092-149G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1092-149G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:20:0:0:21:710:81.01:76.94:4.08:1.00:1.00:1.00:51:54.6:0:0:61:90:34:NM_001039703.4(NBPF10) c.1092-149G>C,NM_001039703.4(NBPF10) c.1092-149G>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 145302548 rs185101955 C T 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.7815,A/0.2185;NP=209;PC=0.018;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-10786C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-10786C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1092-106C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1092-106C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G,T:31:29:0:0:27,1,3:888,9,97:0.00,-0.17,6.90:0.00,-0.13,5.68:0.00,-0.04,1.22:0.00,0.00,0.42:0.00,0.00,0.87:0.00,0.00,0.35:55,42,51:30.0,118.0,120.3:0,0,0:0,0,0:47,92,104:97,59,47:23,0,17:-,NM_001039703.4(NBPF10) c.1092-106C>T:-,NOT_FOUND:-,NOT_FOUND 1 145302581 rs200475393 A G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=82;PC=0.158;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-10753A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-10753A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1092-73A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1092-73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G,T:35:32:0:0:31,3,1:848,103,13:0.00,7.33,0.02:0.00,6.12,0.09:0.00,1.21,-0.06:0.00,0.88,0.00:0.00,0.85,0.00:0.00,0.47,0.00:55,40,51:27.9,121.3,59.0:0,0,0:0,0,0:67,57,148:81,39,3:33,29,0:-,NM_001039703.4(NBPF10) c.1092-73A>G:-,NOT_FOUND:-,NOT_FOUND 1 145302704 rs3926769 A G 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.4866,C/0.5134;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-10630A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-10630A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1142A>G;ProtCh=p.K381R;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.1142A>G;ProtCh=p.K381R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:41:0:0:35,19:1146,618:0.00,55.65:0.00,40.25:0.00,15.40:0.00,1.00:0.00,1.00:0.00,1.00:60,40:4.9,35.5:0,0:0,0:72,68:75,83:33,43:-,NM_001039703.4(NBPF10) c.1142A>G (p.Lys381Arg):-,NOT_FOUND:-,NOT_FOUND 1 145303704 rs200809958 G C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=996;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-9630G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-9630G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1307-206G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1307-206G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:C,G:12:12:0:0:4,8:139,230:12.50,0.00:12.50,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:23,50:67.0,38.2:0,0:0,0:26,29:124,117:10,18:NM_001039703.4(NBPF10) c.1307-206G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145303760 rs9424870 G C 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=845;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-9574G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-9574G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1307-150G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1307-150G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:C,G:21:20:0:0:5,16:169,459:14.29,0.00:14.41,0.00:-0.12,0.00:0.85,0.00:0.99,0.00:0.49,0.00:40,51:61.0,27.9:0,0:0,0:74,52:77,99:33,35:NM_001039703.4(NBPF10) c.1307-150G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145303906 rs61814649 G A 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=2733;PC=0.459;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-9428G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-9428G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1307-4G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1307-4G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:26:0:0:14,30:436,1046:38.33,0.00:8.84,0.00:29.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:53.7,6.5:0,0:0,0:61,49:89,96:26,29:NM_001039703.4(NBPF10) c.1307-4G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145303971 rs146037073 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-9363A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-9363A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1368A>G;ProtCh=p.S456=;VC=Silent;Gene=NBPF10/NM_001302371.1/0;CC=c.1368A>G;ProtCh=p.S456=;VC=Silent;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:28:0:0:37,10:1235,290:0.00,23.21:0.00,8.42:0.00,14.80:0.00,0.99:0.00,0.99:0.00,1.00:60,30:6.1,71.9:0,0:0,0:83,102:62,48:33,7:-,NM_001039703.4(NBPF10) c.1368A>G (p.(=)):-,0.36:-,NOT_FOUND 1 145304153 rs79958378 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=2907;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-9181A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-9181A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1379+171A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1379+171A>G;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:26:0:0:26,11:765,316:0.00,27.07:0.00,7.54:0.00,19.53:0.00,1.00:0.00,1.00:0.00,0.96:60,52:9.6,48.4:0,0:0,0:36,81:115,70:23,36:-,NM_001039703.4(NBPF10) c.1379+171A>G:-,NOT_FOUND:-,NOT_FOUND 1 145304180 rs71241904 G T 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.5292,A/0.4708;NP=2128;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-9154G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-9154G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1379+198G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1379+198G>T;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,T:40:32:0:0:36,4:962,133:0.00,9.59:0.00,7.23:0.00,2.36:0.00,0.59:0.00,0.90:0.00,0.52:60,60:20.8,35.8:0,0:0,0:59,72:91,79:26,50:-,NM_001039703.4(NBPF10) c.1379+198G>T:-,NOT_FOUND:-,NOT_FOUND 1 145304529 rs57379664 T C 159 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=359;DB;DBA=NA;PAF=NA;NP=349;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-8805T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-8805T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1462T>C;ProtCh=p.S488P;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.1462T>C;ProtCh=p.S488P;VC=Missense;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:359:256:0:0:64,1,294:2015,6,9549:159.13,-0.37,0.00:160.42,-0.18,0.00:-1.29,-0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,55:43.0,39.0,8.0:0,0,0:0,0,0:47,135,94:103,16,54:27,0,33:NM_001039703.4(NBPF10) c.1462T>C (p.Ser488Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 145304595 rs9424873 A G 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=365;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-8739A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-8739A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1528A>G;ProtCh=p.T510A;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.1528A>G;ProtCh=p.T510A;VC=Missense;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,C,G,T:365:205:0:0:331,4,27,3:9867,49,910,31:0.00,-0.78,62.47,-0.88:0.00,-0.68,25.75,-0.42:0.00,-0.09,36.72,-0.47:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:55,42,50,49:13.6,31.8,62.0,36.3:0,0,0,0:0,0,0,0:78,67,59,45:70,83,92,106:33,19,23,19:-,NM_001039703.4(NBPF10) c.1528A>G (p.Thr510Ala):-,NOT_FOUND:-,NOT_FOUND 1 145304787 rs71256269 G T 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=2;NP=393;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-8547G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-8547G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1585+135G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1585+135G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:83:1:0:0:1,57,25:10,1761,827:-0.18,0.00,72.76:0.00,0.00,3.36:-0.18,0.00,69.41:0.00,0.00,1.00:0.00,0.00,0.53:0.00,0.00,1.00:40,58,40:50.0,20.5,48.4:0,0,0:0,0,0:40,97,101:111,52,47:0,29,20:-,NM_001039703.4(NBPF10) c.1585+135G>T:-,NOT_FOUND:-,NOT_FOUND 1 145304798 rs7515424 T A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-8536T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-8536T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1585+146T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1585+146T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,C,T:77:0:0:0:7,1,69:218,30,2102:15.01,1.21,0.00:0.00,0.00,0.00:15.01,1.21,0.00:0.88,0.00,0.00:0.00,0.00,0.00:0.88,0.00,0.00:40,22,58:75.0,62.0,26.1:0,0,0:0,0,0:96,147,108:55,4,42:12,0,28:NM_001039703.4(NBPF10) c.1585+146T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145304910 rs367543979 G C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=101;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-8424G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-8424G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1585+258G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1585+258G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:0:0:0:7,14:246,454:22.14,0.00:0.00,0.00:22.14,0.00:0.97,0.00:0.00,0.00:0.97,0.00:48,48:35.1,12.0:0,0:0,0:106,105:45,45:36,31:NM_001039703.4(NBPF10) c.1585+258G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145305873 rs61814655 C T 8 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-7461C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-7461C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1586-72C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1586-72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:19:14:0:0:16,3:528,98:0.00,7.64:0.00,8.08:0.00,-0.45:0.00,0.51:0.00,0.85:0.00,0.66:22,19:7.4,54.0:0,0:0,0:51,17:99,134:26,13:-,NM_001039703.4(NBPF10) c.1586-72C>T:-,NOT_FOUND:-,NOT_FOUND 1 145310197 rs7554921 C T 65 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-3137C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-3137C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1801+134C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1801+134C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:C,T:22:1:0:0:3,19:78,600:0.00,65.29:0.00,1.91:0.00,63.39:0.00,1.00:0.00,0.91:0.00,1.00:60,52:12.7,53.1:0,0:0,0:52,81:98,70:16,29:-,NM_001039703.4(NBPF10) c.1801+134C>T:-,NOT_FOUND:-,NOT_FOUND 1 145310282 rs10910795 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2120;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-3052C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-3052C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1801+219C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1801+219C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:C,T:12:0:0:0:7,5:182,147:0.00,13.60:0.00,0.00:0.00,13.60:0.00,0.92:0.00,0.00:0.00,0.92:60,52:49.0,65.4:0,0:0,0:96,126:54,25:29,11:-,NM_001039703.4(NBPF10) c.1801+219C>T:-,NOT_FOUND:-,NOT_FOUND 1 145310283 rs7546107 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=535;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-3051G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-3051G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1801+220G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1801+220G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:A,G:12:0:0:0:4,8:127,255:11.29,0.00:0.00,0.00:11.29,0.00:0.80,0.00:0.00,0.00:0.80,0.00:51,60:64.8,51.4:0,0:0,0:110,122:40,29:27,19:NM_001039703.4(NBPF10) c.1801+220G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145310833 rs200046139 GA G 11 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=364;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2495delA;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2495delA;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1802-264delA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1802-264delA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:GA,G:14:14:0:4:10,4:295,130:0.00,11.28:0.00,11.28:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:40,40:15.9,0.0:0,0:0,0:31,57:119,93:16,17:-,NM_001039703.4(NBPF10) c.1802-269delA:-,NOT_FOUND:-,NOT_FOUND 1 145310932 rs61816364 C A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=1752;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2402C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2402C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1802-171C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1802-171C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:33:0:0:8,25:251,753:20.99,0.00:20.99,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:40,40:59.1,23.8:0,0:0,0:11,71:138,77:9,32:NM_001039703.4(NBPF10) c.1802-171C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145310971 rs139987921 G C 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=1576;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2363G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2363G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1802-132G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1802-132G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:60:60:0:0:13,47:445,1483:37.09,0.00:37.09,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:33,59:88.0,27.6:0,0:0,0:15,36:135,114:10,24:NM_001039703.4(NBPF10) c.1802-132G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145310983 rs60660425 G C 107 nt VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=3161;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2351G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2351G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1802-120G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1802-120G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:66:0:0:33,33:1111,1041:106.99,0.00:106.99,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:52,60:63.1,17.4:0,0:0,0:36,44:115,107:18,28:NM_001039703.4(NBPF10) c.1802-120G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145311083 rs61816366 A C 198 nt VT=SNV;PN=C;NN=C;SST=Single;DP=166;DB;DBA=NA;PAF=NA;NP=3441;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2251A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2251A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1802-20A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1802-20A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:166:131:0:0:94,72:3092,2131:0.00,197.97:0.00,118.45:0.00,79.53:0.00,1.00:0.00,1.00:0.00,1.00:60,52:6.7,48.1:0,0:0,0:50,56:101,92:28,23:-,NM_001039703.4(NBPF10) c.1802-20A>C:-,NOT_FOUND:-,NOT_FOUND 1 145311110 rs141899955 G C 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=178;DB;DBA=NA;PAF=NA;NP=3373;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2224G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2224G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1809G>C;ProtCh=p.R603=;VC=Silent;Gene=NBPF10/NM_001302371.1/0;CC=c.1809G>C;ProtCh=p.R603=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,G:178:123:0:0:17,161:562,5279:40.06,0.00:15.30,0.00:24.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:65.5,13.9:0,0:0,0:74,63:67,86:21,26:NM_001039703.4(NBPF10) c.1809G>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 145311278 rs7364460 C A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=2224;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2056C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2056C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1853+124C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1853+124C>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,C:47:3:0:0:5,42:145,1431:10.04,0.00:5.66,0.00:4.39,0.00:0.73,0.00:0.34,0.00:0.97,0.00:40,40:98.2,4.3:0,0:0,0:39,93:112,57:17,25:NM_001039703.4(NBPF10) c.1853+124C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145311292 rs28465046 G T 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=1660;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-2042G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-2042G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1853+138G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1853+138G>T;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,T:44:3:0:0:39,5:1235,164:0.00,12.02:0.00,5.62:0.00,6.41:0.00,0.75:0.00,0.36:0.00,0.97:50,40:4.7,98.2:0,0:0,0:100,53:51,98:28,17:-,NM_001039703.4(NBPF10) c.1853+138G>T:-,NOT_FOUND:-,NOT_FOUND 1 145311380 rs4649547 C A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=895;PC=0.079;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1954C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1954C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1853+226C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1853+226C>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,C:22:9:0:0:6,16:182,506:15.47,0.00:5.56,0.00:9.91,0.00:0.93,0.00:0.91,0.00:0.96,0.00:50,50:30.3,30.4:0,0:0,0:55,94:95,46:29,47:NM_001039703.4(NBPF10) c.1853+226C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145311401 rs7364467 C A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=390;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1933C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1933C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1853+247C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1853+247C>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,C:20:12:0:0:5,15:146,468:12.10,0.00:1.90,0.00:10.20,0.00:0.85,0.00:0.59,0.00:0.87,0.00:40,55:63.8,17.5:0,0:0,0:109,52:40,99:12,17:NM_001039703.4(NBPF10) c.1853+247C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145311494 . G C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;NP=33;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1840G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1840G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-292G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-292G>C;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,G:52:48:0:0:9,43:280,1332:21.91,0.00:18.17,0.00:3.74,0.00:0.98,0.00:1.00,0.00:0.70,0.00:60,60:49.4,40.3:0,0:0,0:28,49:104,96:18,30:NM_001039703.4(NBPF10) c.1853+340G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145311539 rs28640909 G C 56 nt VT=SNV;PN=A;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.5889,G/0.4111;NP=563;PC=0.016;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1795G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1795G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-247G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-247G>C;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:61:0:0:20,46:637,1417:55.68,0.00:53.21,0.00:2.47,0.00:1.00,0.00:1.00,0.00:0.96,0.00:59,60:94.7,29.9:0,0:0,0:66,61:82,82:15,30:NM_001039703.4(NBPF10) c.1853+385G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145311546 . CTGTGTG C 36 idl,rn VT=DEL;SST=Single;DP=66;NP=1;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1742_5358-1737delGTGTGT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1742_2584-1737delGTGTGT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-194_1854-189delGTGTGT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-194_1854-189delGTGTGT;VC=Intron;DM=NBPF10/DUF1220;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTGTGTG,G,C:45:61:0:37:28,1,16:867,10,979:0.00,-0.04,36.33:0.00,-0.01,32.78:0.00,-0.03,3.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.92:60,35,60:35.1,38.0,147.6:0,0,21:0,0,0:104,69,48:39,58,102:24,0,17:-,NM_001039703.4(NBPF10) c.1853+393_1853+398delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 145311563 . T A 14 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=60;NP=2;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1771T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1771T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-223T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-223T>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,T:60:54:0:8:6,54:199,1585:14.30,0.00:13.22,0.00:1.08,0.00:0.82,0.00:0.98,0.00:0.66,0.00:59,60:100.8,58.1:0,22:0,0:81,69:69,78:13,32:NM_001039703.4(NBPF10) c.1853+409T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145311565 . T A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=65;NP=4;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1769T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1769T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-221T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-221T>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:A,T:65:58:0:3:7,58:198,1738:13.59,0.00:11.75,0.00:1.84,0.00:0.90,0.00:0.99,0.00:0.73,0.00:59,60:117.0,51.0:0,14:0,0:75,66:75,81:9,32:NM_001039703.4(NBPF10) c.1853+411T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145311578 . G GTGTGTGTT 11 nt VT=INS;SST=Single;DP=64;NP=2;PC=0.091;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1749_5358-1748insTTGTGTGT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1749_2584-1748insTTGTGTGT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-201_1854-200insTTGTGTGT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-201_1854-200insTTGTGTGT;VC=Intron;DM=NBPF10/DUF1220;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:G,T,GTGTGTGTT:63:58:6:0:57,1,5:1878,8,184:0.00,-0.31,11.14:0.00,-0.25,6.18:0.00,-0.06,4.96:0.00,0.00,0.68:0.00,0.00,0.96:0.00,0.00,0.58:60,30,60:63.1,62.0,55.0:11,0,1:0,0,0:69,43,97:82,71,52:28,0,10:-,NM_001039703.4(NBPF10) c.1853+424_1853+425insTGTGTGTT:-,NOT_FOUND:-,NOT_FOUND 1 145311627 rs199621927 C A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=46;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1707C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1707C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-159C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-159C>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:51:0:0:12,49:345,1517:27.12,0.00:15.53,0.00:11.59,0.00:1.00,0.00:1.00,0.00:0.97,0.00:59,60:125.8,37.2:0,0:0,0:111,80:39,60:25,31:NM_001039703.4(NBPF10) c.1853+473C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145311633 rs3099811 A T 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=95;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1701A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1701A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1854-153A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.1854-153A>T;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:67:57:0:0:42,25:1233,786:0.00,71.31:0.00,39.01:0.00,32.30:0.00,1.00:0.00,1.00:0.00,1.00:60,59:18.7,97.2:0,0:0,0:42,112:108,32:37,20:-,NM_001039703.4(NBPF10) c.1853+479A>T:-,NOT_FOUND:-,NOT_FOUND 1 145311828 rs12135693 C G 830 nt VT=SNV;PN=T;NN=C;SST=Single;DP=218;DB;DBA=NA;PAF=C/0.01977,G/0.9802;PC=0.015;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1506C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1506C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.1896C>G;ProtCh=p.F632L;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.1896C>G;ProtCh=p.F632L;VC=Missense;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:218:152:0:0:218:7264:830.00:446.40:383.60:1.00:1.00:1.00:60:42.4:0:0:80:67:31:NM_001039703.4(NBPF10) c.1853+674C>G,NM_001039703.4(NBPF10) c.1853+674C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 145312206 rs116110276 G C 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-1128G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-1128G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2026+248G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2026+248G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:2:0:0:12,11:334,356:32.10,0.00:-0.64,0.00:32.74,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:31.7,6.4:0,0:0,0:75,110:75,41:54,21:NM_001039703.4(NBPF10) c.1853+1052G>C,-:0.02,-:NOT_FOUND,- 1 145312853 rs201772195 T G 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-481T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-481T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2078+124T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2078+124T>G;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:27:7:0:0:9,18:308,599:27.63,0.00:24.20,0.00:3.43,0.00:1.00,0.00:0.92,0.00:1.00,0.00:40,40:71.1,28.4:0,0:0,0:70,106:80,44:57,19:NM_001039703.4(NBPF10) c.1854-481T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145312855 . C T 30 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;NP=15;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-479C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-479C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2078+126C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2078+126C>T;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:7:0:0:16,10:505,327:0.00,29.95:0.00,-1.47:0.00,31.42:0.00,1.00:0.00,0.95:0.00,1.00:40,40:48.9,37.0:0,0:0,0:83,110:68,41:30,21:-,NM_001039703.4(NBPF10) c.1854-479C>T:-,NOT_FOUND:-,NOT_FOUND 1 145312917 rs199993825 C A 14 sb;mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-417C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-417C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2078+188C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2078+188C>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,C:13:7:0:0:5,8:150,245:13.62,0.00:14.89,0.00:-1.26,0.00:0.91,0.00:0.95,0.00:0.93,0.00:18,40:89.4,21.2:0,0:0,0:98,94:53,56:23,42:NM_001039703.4(NBPF10) c.1854-417C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145313036 rs376135796 G A 17 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=54;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-298G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-298G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2079-298G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2079-298G>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,G:89:76:0:0:9,80:248,2256:16.61,0.00:16.84,0.00:-0.22,0.00:0.96,0.00:1.00,0.00:0.72,0.00:19,40:73.9,37.0:0,0:0,0:32,19:119,130:16,13:NM_001039703.4(NBPF10) c.1854-298G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145313163 rs138530408 T C 236 nt VT=SNV;PN=T;NN=T;SST=Single;DP=199;DB;DBA=NA;PAF=NA;NP=1018;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-171T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-171T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2079-171T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2079-171T>C;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:199:184:0:0:87,112:2538,3266:236.06,0.00:197.65,0.00:38.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,60:61.3,31.2:0,0:0,0:120,66:30,84:17,40:NM_001039703.4(NBPF10) c.1854-171T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145313214 rs201101681 G A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.5358-120G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2584-120G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2079-120G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2079-120G>A;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,C,G,T:159:150:0:0:18,1,134,6:422,8,3408,69:27.19,-0.31,0.00,0.17:14.11,-0.28,0.00,0.32:13.09,-0.02,0.00,-0.15:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.81,0.00,0.00,0.00:44,15,60,19:68.6,95.0,20.3,90.3:0,0,0,0:0,0,0,0:130,106,49,118:21,34,99,31:8,0,27,10:NM_001039703.4(NBPF10) c.1854-120G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145313405 rs202020927 C T 137 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=155;DB;DBA=NA;PAF=NA;NP=122;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.5429C>T;ProtCh=p.T1810I;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.2655C>T;ProtCh=p.D885=;VC=Silent;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2150C>T;ProtCh=p.T717I;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.2150C>T;ProtCh=p.T717I;VC=Missense;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:155:1:0:0:1,103,51:11,3322,1550:-0.19,0.00,136.84:-0.00,0.00,-0.17:-0.19,0.00,137.01:0.00,0.00,1.00:0.00,0.00,0.55:0.00,0.00,1.00:12,40,19:108.0,16.7,46.2:0,0,0:0,0,0:73,103,99:78,48,50:0,31,35:-,NM_001039703.4(NBPF10) c.1925C>T (p.Thr642Ile):-,NOT_FOUND:-,NOT_FOUND 1 145313521 . G A 19 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;NP=48;Gene=NBPF20/NM_001278267.1/1;CC=c.5530+15G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2756+15G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2251+15G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2251+15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G,T:33:2:0:0:8,24,1:229,721,9:18.92,0.00,-0.11:2.86,0.00,0.20:16.06,0.00,-0.32:0.98,0.00,0.00:0.52,0.00,0.00:1.00,0.00,0.00:19,40,8:77.0,22.3,60.0:0,0,0:0,0,0:142,108,117:8,42,28:4,38,0:NM_001039703.4(NBPF10) c.2026+15G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145313545 rs375097042 T G 33 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=40;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.5530+39T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2756+39T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2251+39T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2251+39T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:G,T:15:2:0:0:11,4:318,43:33.35,0.00:-1.09,0.00:34.44,0.00:1.00,0.00:0.94,0.00:1.00,0.00:38,40:37.5,77.2:0,0:0,0:76,109:75,41:11,28:NM_001039703.4(NBPF10) c.2026+39T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145314669 rs201099691 G C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=19;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.5583-235G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2809-235G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2304-235G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2304-235G>C;VC=Intron;DM=NBPF10/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,G:5:5:0:2:3,2:104,71:10.37,0.00:10.37,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:25,25:56.3,5.5:0,0:0,0:67,56:84,94:3,7:NM_001039703.4(NBPF10) c.2079-235G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145316155 rs201594802 T G 9 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.5864+256T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+256T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2585+256T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2585+256T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:G,T:9:9:0:0:3,6:105,168:9.45,0.00:9.45,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:16,20:66.0,25.2:0,0:0,0:25,42:126,108:9,21:NM_001039703.4(NBPF10) c.2360+256T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145316225 rs199746854 C T 7 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.017;Gene=NBPF20/NM_001278267.1/1;CC=c.5865-287C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+326C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2586-287C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2586-287C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:8:8:0:0:5,3:174,77:0.00,6.81:0.00,6.81:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:20,16:19.0,66.0:0,0:0,0:106,95:45,56:17,9:-,NM_001039703.4(NBPF10) c.2361-287C>T:-,NOT_FOUND:-,NOT_FOUND 1 145318023 rs369125492 G A 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.025;Gene=NBPF20/NM_001278267.1/1;CC=c.6090-31G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+2124G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2811-31G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2811-31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,C,G:11:10:0:0:5,1,5:140,10,161:13.34,0.32,0.00:13.60,0.36,0.00:-0.26,-0.04,0.00:0.93,0.00,0.00:0.99,0.00,0.00:0.64,0.00,0.00:20,40,16:29.8,10.0,6.6:0,0,0:0,0,0:106,148,59:45,3,92:8,0,32:NM_001039703.4(NBPF10) c.2586-31G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145318399 rs370760626 A G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=10;Gene=NBPF20/NM_001278267.1/1;CC=c.6262+173A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+2500A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.2983+173A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.2983+173A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,G:24:2:0:0:18,6:554,210:0.00,18.00:0.00,1.63:0.00,16.38:0.00,0.92:0.00,0.53:0.00,0.92:40,20:20.7,41.3:0,0:0,0:43,36:103,115:23,14:-,NM_001039703.4(NBPF10) c.2758+173A>G:-,NOT_FOUND:-,NOT_FOUND 1 145319348 . C T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;NP=56;Gene=NBPF20/NM_001278267.1/1;CC=c.6315-276C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3449C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3036-276C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3036-276C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:126:14.51:11.03:3.48:1.00:1.00:1.00:29:94.2:0:0:36:111:5:NM_001039703.4(NBPF10) c.2811-276C>T,NM_001039703.4(NBPF10) c.2811-276C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145319397 . G T 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;NP=3;PC=0.030;Gene=NBPF20/NM_001278267.1/1;CC=c.6315-227G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3498G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3036-227G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3036-227G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,T:19:19:0:3:16,3:542,95:0.00,7.33:0.00,7.41:0.00,-0.07:0.00,0.51:0.00,0.51:0.00,0.41:40,42:79.9,59.0:1,0:0,0:25,7:104,144:11,4:-,NM_001039703.4(NBPF10) c.2811-227G>T:-,NOT_FOUND:-,NOT_FOUND 1 145319431 rs144080996 C G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=196;PC=0.014;Gene=NBPF20/NM_001278267.1/1;CC=c.6315-193C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3532C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3036-193C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3036-193C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,G,I:34:33:1:0:26,7,1:758,206,8:0.00,16.56,-0.17:0.00,16.72,-0.16:0.00,-0.15,-0.02:0.00,0.95,0.00:0.00,1.00,0.00:0.00,0.48,0.00:46,25,8:58.2,153.1,77.0:3,0,0:0,0,0:37,57,72:106,92,68:18,13,0:-,NM_001039703.4(NBPF10) c.2811-193C>G:-,NOT_FOUND:-,NOT_FOUND 1 145319489 rs371916000 T C 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=33;Gene=NBPF20/NM_001278267.1/1;CC=c.6315-135T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3590T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3036-135T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3036-135T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:32:30:0:0:1,17,14:12,536,331:0.18,52.47,0.00:0.20,49.36,0.00:-0.02,3.11,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.91,0.00:17,46,40:200.0,72.4,67.7:0,0,0:0,0,0:128,79,109:14,66,38:0,16,10:NM_001039703.4(NBPF10) c.2811-135T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145319515 . A C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.6315-109A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3616A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3036-109A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3036-109A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,C:27:26:0:0:24,3:638,99:0.00,7.26:0.00,7.33:0.00,-0.08:0.00,0.44:0.00,0.88:0.00,0.34:50,25:56.9,134.0:0,0:0,0:115,138:35,13:14,7:-,NM_001039703.4(NBPF10) c.2811-109A>C:-,NOT_FOUND:-,NOT_FOUND 1 145319566 . G A 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;NP=13;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.6315-58G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3667G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3036-58G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3036-58G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:12:4:0:0:6,6:207,194:19.95,0.00:8.69,0.00:11.26,0.00:0.98,0.00:0.51,0.00:1.00,0.00:40,20:74.8,49.7:0,0:0,0:37,30:112,120:23,13:NM_001039703.4(NBPF10) c.2811-58G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145319606 . T C 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;NP=15;Gene=NBPF20/NM_001278267.1/1;CC=c.6315-18T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3707T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3036-18T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3036-18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:8,7:276,215:26.92,0.00:0.00,0.00:26.92,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,20:54.5,54.3:0,0:0,0:43,56:106,95:11,23:NM_001039703.4(NBPF10) c.2811-18T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145319647 . T C 12 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;NP=43;Gene=NBPF20/NM_001278267.1/1;CC=c.6338T>C;ProtCh=p.V2113A;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3748T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3059T>C;ProtCh=p.V1020A;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.3059T>C;ProtCh=p.V1020A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:C,T:21:0:0:0:4,17:143,534:11.78,0.00:0.00,0.00:11.78,0.00:0.70,0.00:0.00,0.00:0.70,0.00:17,40:62.2,44.5:0,0:0,0:36,74:113,74:12,25:NM_001039703.4(NBPF10) c.2834T>C (p.Val945Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 145319731 . A T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;NP=101;Gene=NBPF20/NM_001278267.1/1;CC=c.6422A>T;ProtCh=p.Q2141L;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+3832A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3143A>T;ProtCh=p.Q1048L;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.3143A>T;ProtCh=p.Q1048L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,T:16:0:0:0:11,5:375,156:0.00,13.67:0.00,0.00:0.00,13.67:0.00,0.88:0.00,0.00:0.00,0.88:40,25:10.5,69.8:0,0:0,0:89,104:60,37:33,24:-,NM_001039703.4(NBPF10) c.2918A>T (p.Gln973Leu):-,NOT_FOUND:-,NOT_FOUND 1 145321981 rs368812857 T G 11 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+1362T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+6082T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3491-143T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3491-143T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:G,T:8:8:0:0:4,4:116,109:11.09,0.00:11.09,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:15,25:31.5,44.8:0,0:0,0:129,130:21,21:6,6:NM_001039703.4(NBPF10) c.3266-143T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145322698 . C T 21 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+2079C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+6799C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3543-74C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3543-74C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:32:0:0:23,9:716,249:0.00,20.95:0.00,20.95:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:40,14:29.3,33.8:0,0:0,0:90,18:61,132:24,11:-,NM_001039703.4(NBPF10) c.3318-74C>T:-,NOT_FOUND:-,NOT_FOUND 1 145322741 . G A 11 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+2122G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+6842G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3543-31G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3543-31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:42:42:0:0:5,37:151,1119:10.84,0.00:10.84,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:15,21:33.2,20.2:0,0:0,0:129,50:21,101:11,31:NM_001039703.4(NBPF10) c.3318-31G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145322743 . T C 9 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+2124T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+6844T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3543-29T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3543-29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:C,T:42:42:0:0:5,37:137,1198:9.48,0.00:9.48,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:14,21:35.6,19.2:0,0:0,0:114,51:36,99:6,30:NM_001039703.4(NBPF10) c.3318-29T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145323427 . G T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=40;NP=41;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+2808G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+7528G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3716-227G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3716-227G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:G,T:40:34:0:0:34,6:1092,190:0.00,14.53:0.00,12.73:0.00,1.80:0.00,0.88:0.00,0.98:0.00,0.60:40,40:29.2,40.3:0,0:0,0:56,50:94,101:24,24:-,NM_001039703.4(NBPF10) c.3491-227G>T:-,NOT_FOUND:-,NOT_FOUND 1 145323444 rs200554278 G C 63 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=1435;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+2825G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+7545G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3716-210G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3716-210G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:44:38:0:0:21,22,1:656,739,9:62.65,0.00,-0.06:56.54,0.00,-0.01:6.11,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:31,40,40:49.0,7.5,69.0:0,0,0:0,0,0:67,45,116:84,106,34:23,28,0:NM_001039703.4(NBPF10) c.3491-210G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145323539 rs61816419 T G 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=2535;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+2920T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+7640T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3716-115T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3716-115T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:121:112:0:0:26,95:800,2979:65.11,0.00:60.68,0.00:4.43,0.00:1.00,0.00:1.00,0.00:0.91,0.00:40,40:47.2,22.5:0,0:0,0:19,62:130,86:14,33:NM_001039703.4(NBPF10) c.3491-115T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145323656 rs75252120 A T 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=308;DB;DBA=NA;PAF=NA;NP=2692;PC=0.353;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+3037A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+7757A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3718A>T;ProtCh=p.I1240F;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.3718A>T;ProtCh=p.I1240F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,T:308:244:0:0:279,29:9005,883:0.00,60.76:0.00,33.64:0.00,27.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,50.0:0,0:0,0:62,70:84,77:24,33:-,NM_001039703.4(NBPF10) c.3493A>T (p.Ile1165Phe):-,NOT_FOUND:-,NOT_FOUND 1 145323757 rs61816420 A T 660 nt VT=SNV;PN=C;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=3382;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+3138A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+7858A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3767+52A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3767+52A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:174:52:0:0:1,173:9,5796:0.00,660.25:0.00,121.45:0.00,538.79:0.00,1.00:0.00,1.00:0.00,1.00:30,58:116.0,41.8:0,0:0,0:35,109:109,38:0,23:NM_001039703.4(NBPF10) c.3542+52A>T,NM_001039703.4(NBPF10) c.3542+52A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145323943 rs202047164 C T 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=862;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+3324C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+8044C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3767+238C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3767+238C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:1:0:0:20,14:544,453:0.00,42.00:0.00,-0.23:0.00,42.23:0.00,1.00:0.00,0.61:0.00,1.00:40,40:26.5,50.8:0,0:0,0:102,121:48,29:16,19:-,NM_001039703.4(NBPF10) c.3542+238C>T:-,NOT_FOUND:-,NOT_FOUND 1 145324066 rs199877908 C T 14 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=179;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+3447C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+8167C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3768-282C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3768-282C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,T:12:11:0:0:7,5:243,156:0.00,14.45:0.00,13.58:0.00,0.86:0.00,0.92:0.00,0.99:0.00,0.92:51,30:32.7,76.6:0,0:0,0:68,12:83,118:47,10:-,NM_001039703.4(NBPF10) c.3543-282C>T:-,NOT_FOUND:-,NOT_FOUND 1 145324092 . G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;NP=2;NP=2;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+3473G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+8193G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3768-256G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3768-256G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:15:14:0:0:3,12:101,364:8.27,0.00:5.29,0.00:2.99,0.00:0.55,0.00:0.92,0.00:0.71,0.00:30,51:130.3,53.7:3,3:0,0:28,51:122,75:6,32:NM_001039703.4(NBPF10) c.3543-256G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145324107 rs143829195 G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=25;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+3488G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+8208G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3768-241G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3768-241G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,G:14:12:0:1:3,11:105,339:8.78,0.00:9.20,0.00:-0.42,0.00:0.56,0.00:0.90,0.00:0.74,0.00:51,40:94.0,72.3:0,4:0,0:62,45:89,77:23,25:NM_001039703.4(NBPF10) c.3543-241G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145324252 . T C 8 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;NP=3;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.6596+3633T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+8353T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.3768-96T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.3768-96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:19:15:0:0:3,16:100,526:7.83,0.00:5.28,0.00:2.55,0.00:0.51,0.00:0.86,0.00:0.51,0.00:19,23:92.0,32.2:0,0:0,0:64,57:87,94:1,27:NM_001039703.4(NBPF10) c.3543-96T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145325667 rs200976074 G C 7 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=11;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-5016G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+9768G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4050-285G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4050-285G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,G:8:3:0:0:3,5:79,173:7.03,0.00:2.64,0.00:4.39,0.00:0.67,0.00:0.78,0.00:0.93,0.00:22,44:68.3,17.0:0,0:0,0:2,24:149,126:2,14:NM_001039703.4(NBPF10) c.3825-285G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145325800 rs61816426 G A 136 nt VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=1073;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-4883G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+9901G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4050-152G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4050-152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:79:70:0:0:49,1,28,1:1348,12,875,8:135.84,0.04,0.00,-0.08:112.15,0.07,0.00,-0.04:23.69,-0.04,0.00,-0.04:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:41,23,44,3:51.5,12.0,16.2,128.0:0,0,0,0:0,0,0,0:96,77,107,81:53,74,43,70:14,0,12,0:NM_001039703.4(NBPF10) c.3825-152G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145325891 rs182583395 C G 73 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.028;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-4792C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+9992C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4050-61C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4050-61C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:42:28:0:0:18,24:608,743:0.00,73.27:0.00,78.79:0.00,-5.52:0.00,1.00:0.00,1.00:0.00,1.00:40,40:33.8,76.2:0,0:0,0:49,21:100,129:6,16:-,NM_001039703.4(NBPF10) c.3825-61C>G:-,0.01:-,NOT_FOUND 1 145325899 rs61816427 A G 159 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=776;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-4784A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+10000A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4050-53A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4050-53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A,G:46:33:0:0:3,43:100,1429:0.00,158.59:0.00,107.93:0.00,50.66:0.00,1.00:0.00,1.00:0.00,1.00:15,40:30.7,62.5:0,0:0,0:50,47:100,103:1,24:NM_001039703.4(NBPF10) c.3825-53A>G,NM_001039703.4(NBPF10) c.3825-53A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145326106 rs201097299 A T 59 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=37;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-4577A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+10207A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4204A>T;ProtCh=p.M1402L;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.4204A>T;ProtCh=p.M1402L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:112:34:0:0:88,24:2892,731:0.00,59.31:0.00,-2.36:0.00,61.66:0.00,1.00:0.00,1.00:0.00,1.00:56,27:4.4,41.5:0,0:0,0:94,79:51,71:27,24:-,NM_001039703.4(NBPF10) c.3979A>T (p.Met1327Leu):-,NOT_FOUND:-,NOT_FOUND 1 145326444 rs587759251 C A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=17;PC=0.078;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-4239C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+10545C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+320C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+320C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,C:8:6:0:0:4,4:102,130:9.68,0.00:7.35,0.00:2.32,0.00:0.87,0.00:0.73,0.00:0.89,0.00:40,40:51.5,8.2:0,0:0,0:29,25:121,121:10,8:NM_001039703.4(NBPF10) c.3997+320C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145326454 rs111472124 A G 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=91;PC=0.039;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-4229A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+10555A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+330A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+330A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:10:9:0:0:7,3:221,104:0.00,9.18:0.00,9.41:0.00,-0.23:0.00,0.62:0.00,0.94:0.00,0.59:40,40:32.4,60.0:0,0:0,0:24,35:127,116:17,9:-,NM_001039703.4(NBPF10) c.3997+330A>G:-,NOT_FOUND:-,NOT_FOUND 1 145326761 rs200591062 C A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=34;PC=0.016;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-3922C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+10862C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+637C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+637C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,C:10:0:0:0:3,7:93,224:8.08,0.00:0.00,0.00:8.08,0.00:0.62,0.00:0.00,0.00:0.62,0.00:25,25:64.7,5.4:0,0:0,0:15,21:134,130:0,18:NM_001039703.4(NBPF10) c.3998-85C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145326762 rs201396029 C A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=36;PC=0.017;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-3921C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+10863C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+638C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+638C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C:10:0:0:0:3,7:101,240:8.88,0.00:0.00,0.00:8.88,0.00:0.62,0.00:0.00,0.00:0.62,0.00:25,25:64.7,5.4:0,0:0,0:16,22:133,129:0,18:NM_001039703.4(NBPF10) c.3998-84C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145327179 rs369782910 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.044;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-3504A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+11280A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+1055A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+1055A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:99:11.64:11.64:0.00:1.00:1.00:0.00:20:84.5:0:0:47:103:22:NM_001039703.4(NBPF10) c.4049+282A>G,NM_001039703.4(NBPF10) c.4049+282A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145327415 rs375916911 T A 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=94;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-3268T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+11516T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+1291T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+1291T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,G,T:116:108:0:0:11,2,103:303,19,3123:20.05,-0.48,0.00:13.97,-0.42,0.00:6.09,-0.06,0.00:0.99,0.00,0.00:1.00,0.00,0.00:0.73,0.00,0.00:37,46,42:54.2,208.5,26.0:0,0,0:0,0,0:30,37,30:118,114,118:2,17,23:NM_001039703.4(NBPF10) c.4050-78T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145327548 rs202019968 A G 51 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=793;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-3135A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+11649A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+1424A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+1424A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G,T:27:14:0:0:10,15,2:105,507,17:0.00,50.69,0.39:0.00,18.68,0.17:0.00,32.01,0.23:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,15,26:106.4,37.6,60.0:0,0,0:0,0,0:105,120,62:43,30,88:22,19,32:-,NM_001039703.4(NBPF10) c.4105A>G (p.Asn1369Asp):-,NOT_FOUND:-,NOT_FOUND 1 145328809 rs61816432 T C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.037;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-1874T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+12910T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4222+2685T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4222+2685T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:118:13.68:9.99:3.69:1.00:1.00:1.00:49:70.0:0:0:59:91:16:NM_001039703.4(NBPF10) c.4281-270T>C,NM_001039703.4(NBPF10) c.4281-270T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 145329808 rs201650735 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=9;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-875A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+13909A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4223-1767A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4223-1767A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:14:0:0:9,7:295,243:0.00,22.88:0.00,23.38:0.00,-0.50:0.00,0.98:0.00,1.00:0.00,0.74:40,25:1.4,40.9:0,0:0,0:93,98:58,53:13,14:-,NM_001039703.4(NBPF10) c.4454-158A>G:-,NOT_FOUND:-,NOT_FOUND 1 145330531 rs61816438 G A 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=31;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-152G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+14632G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4223-1044G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4223-1044G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:99:95:0:0:31,65,3:765,1988,26:65.04,0.00,-0.29:60.49,0.00,-0.25:4.56,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:0.88,0.00,0.00:42,52,44:60.2,22.7,79.0:0,0,0:0,0,0:142,74,107:8,76,39:6,45,9:NM_001039703.4(NBPF10) c.4563-152G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145330537 rs61816439 T A 104 nt VT=SNV;PN=A;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=10;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-146T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+14638T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4223-1038T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4223-1038T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:89:84:0:0:39,1,1,48:1113,11,10,1467:103.85,-0.09,-0.12,0.00:98.16,-0.22,-0.11,0.00:5.69,0.12,-0.01,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.97,0.00,0.00,0.00:40,5,5,52:60.9,223.0,115.0,15.6:0,0,0,0:0,0,0,0:133,20,80,53:18,131,70,97:16,0,0,32:NM_001039703.4(NBPF10) c.4563-146T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145330622 rs61816440 G C 118 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=188;DB;DBA=NA;PAF=NA;NP=18;Gene=NBPF20/NM_001278267.1/1;CC=c.6597-61G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+14723G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4223-953G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4223-953G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:188:129:0:0:41,146,1:1414,4767,11:118.27,0.00,-0.25:-10.57,0.00,-0.15:128.84,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,52,21:45.7,11.1,88.0:0,0,0:0,0,0:36,36,124:114,111,27:16,21,0:NM_001039703.4(NBPF10) c.4563-61G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145330728 . G A 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=229;NP=78;PC=0.540;Gene=NBPF20/NM_001278267.1/1;CC=c.6642G>A;ProtCh=p.Q2214=;VC=Silent;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+14829G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4223-847G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4223-847G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:229:47:0:0:26,203:822,6306:59.53,0.00:5.97,0.00:53.56,0.00:1.00,0.00:0.98,0.00:1.00,0.00:40,40:40.2,17.1:0,0:0,0:117,104:32,46:12,26:NM_001039703.4(NBPF10) c.4608G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 145330829 rs376830820 A G 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=8;Gene=NBPF20/NM_001278267.1/1;CC=c.6743A>G;ProtCh=p.H2248R;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+14930A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4223-746A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4223-746A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:2:0:0:56,24:1755,707:0.00,60.91:0.00,-0.31:0.00,61.21:0.00,1.00:0.00,0.59:0.00,1.00:40,40:7.1,50.7:0,0:0,0:107,107:43,43:26,33:-,NM_001039703.4(NBPF10) c.4709A>G (p.His1570Arg):-,NOT_FOUND:-,NOT_FOUND 1 145332551 . T C 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.6994+156T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+16652T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.4447+156T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.4447+156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:23:23:0:0:3,20:105,617:8.07,0.00:8.10,0.00:-0.03,0.00:0.47,0.00:0.47,0.00:0.42,0.00:20,20:53.0,26.0:0,0:0,0:59,99:91,51:25,16:NM_001039703.4(NBPF10) c.4960+156T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145338268 . C G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;NP=48;PC=0.088;Gene=NBPF20/NM_001278267.1/1;CC=c.7779-249C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+22369C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.5232-249C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.5232-249C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:14:13:0:0:7,7:233,246:0.00,23.73:0.00,20.15:0.00,3.58:0.00,0.99:0.00,1.00:0.00,0.67:51,24:54.3,114.6:0,0:0,0:49,33:86,114:7,8:-,NM_001039703.4(NBPF10) c.5745-249C>G:-,NOT_FOUND:-,NOT_FOUND 1 145338473 . C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;NP=4;PC=0.035;Gene=NBPF20/NM_001278267.1/1;CC=c.7779-44C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+22574C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.5232-44C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.5232-44C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,G:8:0:0:0:5,3:169,83:0.00,7.42:0.00,0.00:0.00,7.42:0.00,0.67:0.00,0.00:0.00,0.67:40,24:0.0,93.3:0,0:0,0:35,32:116,117:2,14:-,NM_001039703.4(NBPF10) c.5745-44C>G:-,NOT_FOUND:-,NOT_FOUND 1 145338533 . C G 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;NP=1;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.7795C>G;ProtCh=p.L2599V;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+22634C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.5248C>G;ProtCh=p.L1750V;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.5248C>G;ProtCh=p.L1750V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:12:0:0:0:9,3:301,78:0.00,6.30:0.00,0.00:0.00,6.30:0.00,0.59:0.00,0.00:0.00,0.59:40,24:29.8,93.3:0,0:0,0:89,92:62,57:8,14:-,NM_001039703.4(NBPF10) c.5761C>G (p.Leu1921Val):-,NOT_FOUND:-,NOT_FOUND 1 145341546 . T A 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.8286-103T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+25647T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.5739-103T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.5739-103T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:57:56:0:0:27,30:614,809:56.96,0.00:57.24,0.00:-0.28,0.00:1.00,0.00:1.00,0.00:0.65,0.00:22,22:43.7,37.8:0,0:0,0:133,126:18,24:8,8:NM_001039703.4(NBPF10) c.6252-103T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145341977 . T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.8458+156T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3090+26078T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.5911+156T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.5911+156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,T:6:0:0:0:3,3:100,89:9.63,0.00:0.00,0.00:9.63,0.00:0.73,0.00:0.00,0.00:0.73,0.00:22,22:69.0,50.3:0,0:0,0:139,138:12,13:2,1:NM_001039703.4(NBPF10) c.6424+156T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145347712 rs149421799 C G 13 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=37;PC=0.206;Gene=NBPF20/NM_001278267.1/1;CC=c.9243-253C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-20729C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6696-253C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6696-253C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,G,I:14:15:3:1:8,4,2:261,141,57:0.00,12.63,1.77:0.00,12.70,1.81:0.00,-0.07,-0.03:0.00,0.76,0.00:0.00,0.76,0.00:0.00,0.51,0.00:40,27,28:68.4,92.8,110.5:0,0,1:0,0,0:8,25,64:113,97,87:5,5,30:-,NM_001039703.4(NBPF10) c.7209-253C>G:-,NOT_FOUND:-,NOT_FOUND 1 145347768 . C G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;NP=2;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.9243-197C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-20673C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6696-197C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6696-197C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:15:14:0:0:11,4:293,83:0.00,6.43:0.00,6.77:0.00,-0.34:0.00,0.76:0.00,0.97:0.00,0.71:43,25:61.9,128.5:0,0:0,0:77,75:57,46:5,13:-,NM_001039703.4(NBPF10) c.7209-197C>G:-,NOT_FOUND:-,NOT_FOUND 1 145347770 . A G 8 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;NP=2;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.9243-195A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-20671A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6696-195A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6696-195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,C,G:14:12:0:0:9,1,4:172,15,98:0.00,0.59,8.26:0.00,0.67,8.61:0.00,-0.08,-0.35:0.00,0.00,0.77:0.00,0.00,0.96:0.00,0.00,0.66:43,12,17:63.2,31.0,148.8:0,0,0:0,0,0:82,142,70:55,9,63:8,0,6:-,NM_001039703.4(NBPF10) c.7209-195A>G:-,NOT_FOUND:-,NOT_FOUND 1 145347796 . C T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.9243-169C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-20645C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6696-169C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6696-169C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:12:9:0:0:6,6:170,83:0.00,7.47:0.00,8.52:0.00,-1.05:0.00,0.98:0.00,1.00:0.00,0.51:43,27:68.8,101.7:0,0:0,0:96,112:43,25:8,8:-,NM_001039703.4(NBPF10) c.7209-169C>T:-,NOT_FOUND:-,NOT_FOUND 1 145349377 . T C 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=126;Gene=NBPF20/NM_001278267.1/1;CC=c.9525-186T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-19064T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6978-186T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6978-186T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:126:126:0:0:19,1,106:560,11,3104:42.04,-0.26,0.00:42.04,-0.26,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:40,4,41:114.7,111.0,47.0:0,0,0:0,0,0:89,116,75:61,29,76:15,0,19:NM_001039703.4(NBPF10) c.7491-186T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145349397 . C T 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=122;Gene=NBPF20/NM_001278267.1/1;CC=c.9525-166C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-19044C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6978-166C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6978-166C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:122:122:0:0:106,16:3117,450:0.00,32.20:0.00,32.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:41,38:48.0,116.4:0,0:0,0:95,104:56,46:19,17:-,NM_001039703.4(NBPF10) c.7491-166C>T:-,NOT_FOUND:-,NOT_FOUND 1 145349411 rs200511591 G A 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.9525-152G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-19030G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6978-152G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6978-152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:110:110:0:0:27,1,82:705,14,2410:56.95,-0.10,0.00:56.95,-0.10,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:38,10,40:96.6,140.0,43.0:0,0,0:0,0,0:109,138,107:42,12,44:15,0,17:NM_001039703.4(NBPF10) c.7491-152G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145349417 rs200064866 C A 346 nt VT=SNV;PN=A;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.9525-146C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-19024C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6978-146C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.6978-146C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:107:107:0:0:103,3,1:3033,100,10:346.05,0.00,0.08:346.05,0.00,0.08:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:40,15,35:56.8,60.3,188.0:0,0,0:0,0,0:113,5,119:38,145,32:16,0,0:NM_001039703.4(NBPF10) c.7491-146C>A,NM_001039703.4(NBPF10) c.7491-146C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145349584 rs370191373 T A 76 nt VT=SNV;PN=A;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.577;Gene=NBPF20/NM_001278267.1/1;CC=c.9546T>A;ProtCh=p.D3182E;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-18857T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.6999T>A;ProtCh=p.D2333E;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.6999T>A;ProtCh=p.D2333E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:111:2:0:0:27,84:898,2783:75.95,0.00:-0.24,0.00:76.19,0.00:1.00,0.00:0.52,0.00:1.00,0.00:40,40:53.6,20.4:0,0:0,0:80,91:70,60:26,16:NM_001039703.4(NBPF10) c.7512T>A (p.Asp2504Glu),-:NOT_FOUND,-:NOT_FOUND,- 1 145349633 . A G 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=95;PC=0.262;Gene=NBPF20/NM_001278267.1/1;CC=c.9595A>G;ProtCh=p.T3199A;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-18808A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7048A>G;ProtCh=p.T2350A;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.7048A>G;ProtCh=p.T2350A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:A,C,G:95:1:0:0:82,2,11:2200,18,347:0.00,-0.45,25.35:0.00,-0.01,-0.05:0.00,-0.44,25.40:0.00,0.00,0.99:0.00,0.00,0.41:0.00,0.00,1.00:40,40,40:27.7,31.0,59.6:0,0,0:0,0,0:113,96,95:37,55,55:27,32,37:-,NM_001039703.4(NBPF10) c.7561A>G (p.Thr2521Ala):-,NOT_FOUND:-,NOT_FOUND 1 145349709 . A G 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.9671A>G;ProtCh=p.H3224R;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-18732A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7124A>G;ProtCh=p.H2375R;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.7124A>G;ProtCh=p.H2375R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:0:0:0:16,16:508,532:0.00,51.22:0.00,0.00:0.00,51.22:0.00,1.00:0.00,0.00:0.00,1.00:40,40:13.9,60.8:0,0:0,0:108,122:43,29:30,15:-,NM_001039703.4(NBPF10) c.7637A>G (p.His2546Arg):-,NOT_FOUND:-,NOT_FOUND 1 145349719 . G C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.9681G>C;ProtCh=p.L3227F;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-18722G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7134G>C;ProtCh=p.L2378F;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.7134G>C;ProtCh=p.L2378F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:C,G:29:0:0:0:5,24:131,776:9.70,0.00:0.00,0.00:9.70,0.00:0.80,0.00:0.00,0.00:0.80,0.00:40,40:92.4,21.7:0,0:0,0:141,120:7,30:8,14:NM_001039703.4(NBPF10) c.7647G>C (p.Leu2549Phe),-:NOT_FOUND,-:NOT_FOUND,- 1 145350045 rs201102922 G T 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.9697+310G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-18396G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7150+310G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7150+310G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:317:36.47:0.00:36.47:1.00:0.00:1.00:23:87.0:0:0:51:96:15:NM_001039703.4(NBPF10) c.7663+310G>T,NM_001039703.4(NBPF10) c.7663+310G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145350076 rs200910430 C G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.9697+341C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-18365C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7150+341C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7150+341C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,G:11:0:0:0:1,10:36,307:0.00,33.97:0.00,0.00:0.00,33.97:0.00,1.00:0.00,0.00:0.00,1.00:17,23:52.0,87.8:0,0:0,0:96,77:55,71:0,20:-,NM_001039703.4(NBPF10) c.7663+341C>G:-,NOT_FOUND:-,NOT_FOUND 1 145350145 rs201880455 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.9698-310C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-18296C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7151-310C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7151-310C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:8:1:0:0:3,5:92,161:0.00,16.19:0.00,-0.42:0.00,16.61:0.00,0.97:0.00,0.75:0.00,1.00:21,23:34.7,114.6:0,0:0,0:62,112:84,38:3,15:-,NM_001039703.4(NBPF10) c.7664-310C>T:-,NOT_FOUND:-,NOT_FOUND 1 145350469 rs202184112 C A 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.9712C>A;ProtCh=p.Q3238K;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-17972C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7165C>A;ProtCh=p.Q2389K;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.7165C>A;ProtCh=p.Q2389K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:A,C:13:13:0:0:8,5:220,123:22.06,0.00:22.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:27,20:36.6,21.0:0,0:0,0:78,88:59,63:13,14:NM_001039703.4(NBPF10) c.7678C>A (p.Gln2560Lys),-:NOT_FOUND,-:NOT_FOUND,- 1 145351951 . T A 6 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;PC=0.427;Gene=NBPF20/NM_001278267.1/1;CC=c.9923-34T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-16490T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7376-34T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7376-34T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,T:17:17:0:0:3,14:84,438:6.41,0.00:6.41,0.00:0.00,0.00:0.53,0.00:0.53,0.00:0.00,0.00:18,22:28.0,7.6:0,0:0,0:133,124:18,27:1,5:NM_001039703.4(NBPF10) c.7889-34T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145352138 rs199854379 C G 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=100;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.9974+102C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-16303C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7427+102C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7427+102C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:3:0:0:12,8:389,233:0.00,21.25:0.00,7.04:0.00,14.21:0.00,0.99:0.00,0.80:0.00,1.00:20,37:18.1,53.2:0,0:0,0:112,100:39,51:17,11:-,NM_001039703.4(NBPF10) c.7940+102C>G:-,NOT_FOUND:-,NOT_FOUND 1 145352336 rs4094368 C A 125 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=116;Gene=NBPF20/NM_001278267.1/1;CC=c.9974+300C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-16105C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7427+300C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7427+300C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:59:57:0:0:39,20:1227,604:124.90,0.00:120.34,0.00:4.56,0.00:1.00,0.00:1.00,0.00:0.99,0.00:50,40:54.7,28.9:0,0:0,0:14,23:135,128:9,11:NM_001039703.4(NBPF10) c.7940+300C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145352397 rs376916491 T C 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=NA;NP=49;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-288T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-16044T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-288T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-288T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:133:123:0:0:14,119:464,3568:33.66,0.00:29.31,0.00:4.36,0.00:1.00,0.00:1.00,0.00:0.89,0.00:32,50:43.0,47.8:0,0:0,0:69,47:82,91:15,21:NM_001039703.4(NBPF10) c.7941-288T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145352440 rs61813386 C G 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=160;DB;DBA=NA;PAF=NA;NP=128;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-245C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-16001C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-245C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-245C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,D:159:150:0:3:2,132,20,3,2:19,4306,622,40,42:-0.48,0.00,46.20,0.30,-0.44:-0.38,0.00,41.18,0.46,0.05:-0.10,0.00,5.02,-0.16,-0.49:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,0.96,0.00,0.00:19,50,40,22,24:29.5,45.8,76.5,107.3,79.5:0,1,0,0,1:0,0,0,0,0:134,84,86,93,71:16,55,55,42,80:8,29,16,6,10:-,NM_001039703.4(NBPF10) c.7941-245C>G:-,NOT_FOUND:-,NOT_FOUND 1 145352457 . T TGC 25 nt VT=INS;SST=Single;DP=159;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-227_9975-226insCG;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15983_3091-15982insCG;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-227_7428-226insCG;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-227_7428-226insCG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T,TGC:159:146:17:0:6,136,17:148,3959,392:7.26,0.00,24.63:5.47,0.00,19.62:1.79,0.00,5.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.95:24,41,50:87.2,51.8,27.4:0,3,0:0,0,0:95,94,101:31,46,48:24,30,20:-,NM_001039703.4(NBPF10) c.7941-228_7941-227insGC:-,NOT_FOUND:-,NOT_FOUND 1 145352489 rs61813388 T C 64 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=430;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-196T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15952T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-196T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-196T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:86:68:0:5:32,54:737,1545:64.11,0.00:29.03,0.00:35.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,40:60.3,46.8:0,9:0,0:101,106:44,36:24,18:NM_001039703.4(NBPF10) c.7941-196T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145352490 . A G 13 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=83;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-195A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15951A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-195A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,C,G,T,D:83:64:0:6:67,4,8,3,1:1503,59,198,52,18:0.00,1.69,12.81,1.78,0.16:0.00,2.12,13.69,-0.13,0.27:0.00,-0.43,-0.88,1.92,-0.10:0.00,0.00,0.93,0.00,0.00:0.00,0.00,0.99,0.00,0.00:0.00,0.00,0.80,0.00,0.00:41,22,20,24,22:49.3,83.2,38.9,89.7,143.0:5,0,5,0,0:0,0,0,0,0:100,135,127,118,104:44,15,23,16,21:20,2,9,26,0:-,NM_001039703.4(NBPF10) c.7941-195A>G:-,NOT_FOUND:-,NOT_FOUND 1 145352507 . A T 11 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=75;PC=0.026;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-178A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15934A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-178A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-178A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,T:75:53:0:0:60,15:1393,204:0.00,11.45:0.00,13.62:0.00,-2.17:0.00,1.00:0.00,1.00:0.00,0.98:41,25:53.4,77.5:4,0:0,0:107,117:39,13:19,25:-,NM_001039703.4(NBPF10) c.7941-178A>T:-,NOT_FOUND:-,NOT_FOUND 1 145352589 rs201273336 T C 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=152;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-96T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15852T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-96T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:14,8:470,218:47.43,0.00:0.00,0.00:47.43,0.00:1.00,0.00:0.00,0.00:1.00,0.00:24,21:78.9,5.0:0,0:0,0:55,5:96,146:41,2:NM_001039703.4(NBPF10) c.7941-96T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145352641 rs61813391 C G 125 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=153;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.9975-44C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15800C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7428-44C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7428-44C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:59:0:0:0:21,38:644,1232:0.00,124.65:0.00,0.00:0.00,124.65:0.00,1.00:0.00,0.00:0.00,1.00:25,24:9.2,67.1:2,0:0,0:35,37:116,113:20,22:-,NM_001039703.4(NBPF10) c.7941-44C>G:-,NOT_FOUND:-,NOT_FOUND 1 145352701 rs200265751 C G 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=119;Gene=NBPF20/NM_001278267.1/1;CC=c.9991C>G;ProtCh=p.L3331V;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15740C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7444C>G;ProtCh=p.L2482V;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.7444C>G;ProtCh=p.L2482V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:89:0:0:0:60,29:1858,875:0.00,76.92:0.00,0.00:0.00,76.92:0.00,1.00:0.00,0.00:0.00,1.00:25,25:25.3,65.9:0,0:0,0:74,65:76,85:26,29:-,NM_001039703.4(NBPF10) c.7957C>G (p.Leu2653Val):-,NOT_FOUND:-,NOT_FOUND 1 145352886 . G C 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;NP=73;Gene=NBPF20/NM_001278267.1/1;CC=c.10147+29G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-15555G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7600+29G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7600+29G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:C,G:17:0:0:0:13,4:434,137:45.57,0.00:0.00,0.00:45.57,0.00:1.00,0.00:0.00,0.00:1.00,0.00:25,22:59.6,22.5:3,0:0,0:118,131:27,19:15,12:NM_001039703.4(NBPF10) c.8113+29G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145354065 . CTCTCTG C 48 sb,rn VT=DEL;SST=Single;DP=233;Gene=NBPF20/NM_001278267.1/1;CC=c.10257-196_10257-191delCTGTCT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-14342_3091-14337delCTGTCT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7710-196_7710-191delCTGTCT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7710-196_7710-191delCTGTCT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTCTCTG,T,C:233:229:0:63:170,1,62:5394,8,768:0.00,-0.27,47.69:0.00,-0.26,48.70:0.00,-0.01,-1.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.94:60,14,65:36.4,112.0,13.1:1,0,0:0,0,0:44,66,32:103,84,119:29,0,16:-,NM_001039703.4(NBPF10) c.8223-229_8223-224delTCTCTG:-,NOT_FOUND:-,NOT_FOUND 1 145354109 rs76468839 T C 245 nt VT=SNV;PN=T;NN=T;SST=Single;DP=511;DB;DBA=NA;PAF=NA;NP=1597;PC=0.087;Gene=NBPF20/NM_001278267.1/1;CC=c.10257-186T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-14332T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7710-186T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7710-186T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:511:497:0:0:1,99,1,410:9,3064,10,12340:-0.34,244.93,-0.33,0.00:-0.32,232.23,-0.32,0.00:-0.01,12.70,-0.01,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.99,0.00,0.00:12,60,57,65:64.0,76.1,75.0,16.9:0,0,0,2:0,0,0,0:98,52,104,35:53,96,44,114:0,23,0,16:NM_001039703.4(NBPF10) c.8223-186T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145354129 rs74669067 C T 239 nt VT=SNV;PN=A;NN=C;SST=Single;DP=502;DB;DBA=NA;PAF=NA;NP=1197;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10257-166C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-14312C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7710-166C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7710-166C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:502:483:0:0:1,401,2,98:10,12687,20,2998:-0.33,0.00,-0.61,239.44:-0.30,0.00,-0.56,226.25:-0.02,0.00,-0.05,13.19:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,65,49,60:185.0,14.2,154.5,80.6:0,0,0,0:0,0,0,0:67,53,59,68:65,97,87,80:0,15,0,19:-,NM_001039703.4(NBPF10) c.8223-166C>T:-,NOT_FOUND:-,NOT_FOUND 1 145354324 rs372557852 G A 170 nt VT=SNV;PN=G;NN=G;SST=Single;DP=366;DB;DBA=NA;PAF=NA;NP=207;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10286G>A;ProtCh=p.G3429E;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-14117G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7739G>A;ProtCh=p.G2580E;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.7739G>A;ProtCh=p.G2580E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:366:0:0:1:67,1,296,2:2136,5,9144,22:170.31,-0.38,0.00,-0.51:0.00,0.00,0.00,0.00:170.31,-0.38,0.00,-0.51:1.00,0.00,0.00,0.00:0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,40,40,28:59.2,148.0,9.9,46.0:0,0,0,0:0,0,0,0:106,54,98,108:41,96,53,37:18,0,26,16:NM_001039703.4(NBPF10) c.8252G>A (p.Gly2751Glu),-:NOT_FOUND,-:NOT_FOUND,- 1 145354441 rs199712346 A G 373 nt VT=SNV;PN=C;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=583;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10403A>G;ProtCh=p.H3468R;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-14000A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7856A>G;ProtCh=p.H2619R;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.7856A>G;ProtCh=p.H2619R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:101:0:0:0:1,100:10,3254:0.10,372.57:0.00,0.00:0.10,372.57:0.00,1.00:0.00,0.00:0.00,1.00:15,40:73.0,45.0:0,0:0,0:66,107:85,43:0,24:NM_001039703.4(NBPF10) c.8369A>G (p.His2790Arg),NM_001039703.4(NBPF10) c.8369A>G (p.His2790Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145354597 rs368780379 C G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=107;PC=0.036;Gene=NBPF20/NM_001278267.1/1;CC=c.10429+130C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-13844C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7882+130C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7882+130C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:193:22.60:0.00:22.60:1.00:0.00:1.00:40:50.0:0:0:119:30:21:NM_001039703.4(NBPF10) c.8395+130C>G,NM_001039703.4(NBPF10) c.8395+130C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145355571 rs201004896 G A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=266;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10482-266G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-12870G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7935-266G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7935-266G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:16:14:0:0:6,10:174,258:15.66,0.00:11.48,0.00:4.18,0.00:0.95,0.00:1.00,0.00:0.85,0.00:40,20:71.8,28.6:0,0:0,0:60,134:91,17:18,9:NM_001039703.4(NBPF10) c.8448-266G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145355624 rs142055197 C T 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2103;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10482-213C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-12817C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.7935-213C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.7935-213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C,T:17:14:0:0:1,16:14,544:0.00,60.47:0.00,45.46:0.00,15.00:0.00,1.00:0.00,1.00:0.00,1.00:12,40:113.0,57.4:0,0:0,0:55,35:96,116:0,23:NM_001039703.4(NBPF10) c.8448-213C>T,NM_001039703.4(NBPF10) c.8448-213C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145356453 rs368535083 A G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+444A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11988A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+444A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+444A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:32:20:0:0:27,5:844,150:0.00,11.38:0.00,7.46:0.00,3.93:0.00,0.79:0.00,0.92:0.00,0.86:40,22:21.0,54.6:0,0:0,0:76,69:75,82:15,14:-,NM_001039703.4(NBPF10) c.8621-266A>G:-,NOT_FOUND:-,NOT_FOUND 1 145356548 rs71225425 T C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+539T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11893T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+539T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+539T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:17:17:0:0:6,11:171,344:15.16,0.00:15.26,0.00:-0.09,0.00:0.95,0.00:0.95,0.00:0.57,0.00:21,50:68.7,13.9:0,0:0,0:143,28:6,106:5,16:NM_001039703.4(NBPF10) c.8621-171T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145357131 . T C 24 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;NP=2;PC=0.019;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1122T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11310T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1122T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:28:0:0:8,24:277,726:23.71,0.00:24.20,0.00:-0.50,0.00:0.98,0.00:0.96,0.00:0.69,0.00:16,25:76.1,52.5:0,0:0,0:21,24:123,123:13,13:NM_001039703.4(NBPF10) c.8673-286T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145357158 rs369325772 TTC T 14 idl;mq,rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=48;PC=0.021;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1167_10654+1168delCT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11265_3091-11264delCT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1167_8107+1168delCT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1167_8107+1168delCT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTC,T:49:47:0:33:19,30:540,192:0.00,13.69:0.00,10.38:0.00,3.32:0.00,1.00:0.00,1.00:0.00,1.00:25,18:78.2,53.1:0,3:0,0:35,38:116,109:23,16:-,NM_001039703.4(NBPF10) c.8673-258_8673-257delTC:-,NOT_FOUND:-,NOT_FOUND 1 145357176 rs200594113 C G 27 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=156;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1167C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11265C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1167C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1167C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:71:65:0:0:61,10:2025,348:0.00,27.04:0.00,27.50:0.00,-0.46:0.00,0.99:0.00,1.00:0.00,0.66:25,16:52.1,91.5:0,0:0,0:40,39:108,109:23,11:-,NM_001039703.4(NBPF10) c.8673-241C>G:-,NOT_FOUND:-,NOT_FOUND 1 145357195 . T C 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=71;NP=26;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1186T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11246T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1186T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1186T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:65:0:0:22,49:732,1480:64.63,0.00:57.37,0.00:7.27,0.00:1.00,0.00:1.00,0.00:0.94,0.00:22,25:72.8,50.4:0,0:0,0:72,54:78,93:26,18:NM_001039703.4(NBPF10) c.8673-222T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145357221 . T C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=70;NP=41;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1212T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11220T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1212T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1212T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:65:0:1:19,51:384,1587:29.67,0.00:21.68,0.00:7.99,0.00:1.00,0.00:1.00,0.00:0.93,0.00:22,25:75.9,52.2:0,0:0,0:87,83:58,66:25,18:NM_001039703.4(NBPF10) c.8673-196T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145357239 . A T 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=68;PC=0.036;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1230A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11202A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1230A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1230A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G,T:68:62:0:0:52,1,15:1100,5,189:0.00,-0.30,10.74:0.00,-0.25,11.65:0.00,-0.06,-0.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.89:22,6,25:49.8,87.0,77.7:0,0,0:0,0,0:94,110,109:51,16,41:22,0,21:-,NM_001039703.4(NBPF10) c.8673-178A>T:-,NOT_FOUND:-,NOT_FOUND 1 145357248 . C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=64;PC=0.032;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1239C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11193C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1239C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1239C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:64:57:0:0:50,14:1092,181:0.00,10.30:0.00,11.27:0.00,-0.97:0.00,1.00:0.00,1.00:0.00,0.89:25,25:50.7,80.8:0,0:0,0:102,114:43,34:18,21:-,NM_001039703.4(NBPF10) c.8673-169C>T:-,NOT_FOUND:-,NOT_FOUND 1 145357321 . T C 12 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;NP=24;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1312T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11120T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1312T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1312T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,T:16:2:0:0:4,12:136,341:11.61,0.00:-0.25,0.00:11.85,0.00:0.75,0.00:0.53,0.00:0.96,0.00:11,17:100.0,12.9:0,0:0,0:105,35:44,115:25,34:NM_001039703.4(NBPF10) c.8673-96T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145357373 . C G 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;NP=29;PC=0.036;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1364C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11068C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1364C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1364C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:39:0:0:0:19,20:625,645:0.00,62.30:0.00,0.00:0.00,62.30:0.00,1.00:0.00,0.00:0.00,1.00:25,25:11.1,63.0:0,0:0,0:50,27:101,123:15,13:-,NM_001039703.4(NBPF10) c.8673-44C>G:-,NOT_FOUND:-,NOT_FOUND 1 145357433 . C G 58 nt VT=SNV;PN=G;NN=T;SST=Single;DP=55;NP=1;NP=36;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1424C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-11008C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1424C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1424C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:55:0:0:0:35,19,1:1132,640,10:0.00,57.86,-0.11:0.00,0.00,0.00:0.00,57.86,-0.11:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:25,22,23:14.1,62.5,61.0:0,0,0:0,0,0:74,86,75:77,65,76:36,15,0:-,NM_001039703.4(NBPF10) c.8689C>G (p.Leu2897Val):-,NOT_FOUND:-,NOT_FOUND 1 145357543 . T G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;NP=3;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+1534T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-10898T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+1534T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+1534T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:G,T:19:0:0:0:5,14:165,453:14.13,0.00:0.00,0.00:14.13,0.00:0.86,0.00:0.00,0.00:0.86,0.00:25,22:46.6,9.7:0,0:0,0:108,128:41,22:19,14:NM_001039703.4(NBPF10) c.8799T>G (p.Phe2933Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 145358965 . T C 25 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=66;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+2956T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9476T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+2956T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+2956T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:66:0:0:11,55:325,1503:24.93,0.00:24.93,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:15,40:52.2,17.8:0,0:0,0:83,76:68,73:11,10:NM_001039703.4(NBPF10) c.8955-50T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145359049 rs371947186 A G 11 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=582;PC=0.011;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+3040A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9392A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+3040A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+3040A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G,T:10:10:0:0:3,6,1:36,108,9:0.00,11.10,0.34:0.00,11.10,0.34:0.00,0.00,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.00,0.00:15,40,15:108.3,50.3,20.0:0,0,0:0,0,0:120,148,119:15,2,32:25,1,0:-,NM_001039703.4(NBPF10) c.8989A>G (p.Lys2997Glu):-,NOT_FOUND:-,NOT_FOUND 1 145359109 rs3967942 T A 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=9;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+3100T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9332T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+3100T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+3100T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:10:0:0:11:340:39.21:35.43:3.78:1.00:1.00:1.00:40:78.2:0:0:14:137:7:NM_001039703.4(NBPF10) c.9049T>A (p.Cys3017Ser),NM_001039703.4(NBPF10) c.9049T>A (p.Cys3017Ser):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145359110 rs4058802 G C 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+3101G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9331G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+3101G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+3101G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:15:0:0:16:526:60.23:52.28:7.95:1.00:1.00:1.00:40:65.0:0:0:9:138:8:NM_001039703.4(NBPF10) c.9050G>C (p.Cys3017Ser),NM_001039703.4(NBPF10) c.9050G>C (p.Cys3017Ser):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145359301 . C A 25 end;mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;PC=0.501;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+3292C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9140C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+3292C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+3292C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:2:0:0:10,27:296,809:25.00,0.00:-0.20,0.00:25.20,0.00:1.00,0.00:0.56,0.00:1.00,0.00:15,21:34.1,28.6:0,0:0,0:148,142:3,9:2,4:NM_001039703.4(NBPF10) c.9127+114C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145359363 . G A 8 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;PC=0.028;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+3354G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9078G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+3354G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+3354G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:5:0:0:0:3,2:82,66:8.17,0.00:0.00,0.00:8.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:40,40:79.7,83.0:0,0:0,0:1,68:149,83:0,32:NM_001039703.4(NBPF10) c.9127+176G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145359386 rs202102829 C G 18 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=20;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+3377C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9055C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+3377C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+3377C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,G:16:2:0:0:10,6:309,193:0.00,17.57:0.00,2.95:0.00,14.63:0.00,0.95:0.00,0.67:0.00,1.00:40,25:91.0,79.7:0,0:0,0:24,5:126,142:12,3:-,NM_001039703.4(NBPF10) c.9127+199C>G:-,NOT_FOUND:-,NOT_FOUND 1 145359424 rs61813397 T G 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=27;NP=96;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10654+3415T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-9017T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8107+3415T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8107+3415T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C,G,T:18:2:0:0:1,16,1:22,489,10:1.41,54.78,0.00:0.00,8.05,0.00:1.41,46.73,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:17,40,40:157.0,92.2,130.0:0,0,0:0,0,0:31,47,97:118,102,54:0,10,0:NM_001039703.4(NBPF10) c.9127+237T>G,NM_001039703.4(NBPF10) c.9127+237T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145359495 rs61813399 T C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-3484T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-8946T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-3484T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-3484T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:19:2:0:0:6,13:116,422:9.26,0.00:-0.16,0.00:9.43,0.00:0.94,0.00:0.61,0.00:0.94,0.00:22,25:96.2,108.2:0,0:0,0:117,111:32,35:18,16:NM_001039703.4(NBPF10) c.9127+308T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145359498 rs373686353 A G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=47;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-3481A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-8943A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-3481A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-3481A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G,T:19:2:0:0:15,3,1:491,100,11:0.00,7.91,0.09:0.00,1.60,-0.01:0.00,6.31,0.10:0.00,0.51,0.00:0.00,0.41,0.00:0.00,0.51,0.00:25,25,20:101.0,103.7,96.0:0,0,0:0,0,0:114,130,140:36,21,2:18,2,0:-,NM_001039703.4(NBPF10) c.9127+311A>G:-,NOT_FOUND:-,NOT_FOUND 1 145359528 rs61813400 C G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-3451C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-8913C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-3451C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-3451C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,G:12:1:0:0:5,7:122,234:0.00,23.28:0.00,1.82:0.00,21.46:0.00,0.99:0.00,0.72:0.00,0.99:22,21:92.4,129.7:0,0:0,0:102,126:47,25:6,22:-,NM_001039703.4(NBPF10) c.9127+341C>G:-,NOT_FOUND:-,NOT_FOUND 1 145359531 rs61813401 C A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-3448C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-8910C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-3448C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-3448C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,C:12:2:0:0:9,3:289,33:30.37,0.00:6.60,0.00:23.77,0.00:1.00,0.00:0.95,0.00:1.00,0.00:22,17:95.6,122.7:0,0:0,0:67,105:84,30:53,0:NM_001039703.4(NBPF10) c.9127+344C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145359539 rs201293798 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-3440G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-8902G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-3440G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-3440G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:11:2:0:0:5,6:155,179:14.60,0.00:-0.52,0.00:15.12,0.00:0.93,0.00:0.75,0.00:0.99,0.00:21,22:150.8,62.7:0,0:0,0:115,64:35,84:31,49:NM_001039703.4(NBPF10) c.9127+352G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145360154 . A G 9 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;NP=1;PC=0.020;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2825A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-8287A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2825A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2825A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,G:4:1:0:0:1,3:24,90:0.00,9.45:0.00,1.93:0.00,7.53:0.00,0.85:0.00,0.83:0.00,0.85:19,40:143.0,30.0:0,0:0,0:144,138:7,7:0,1:-,NM_001039703.4(NBPF10) c.9179+196A>G:-,NOT_FOUND:-,NOT_FOUND 1 145360584 rs368319396 G A 236 nt VT=SNV;PN=G;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=71;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2395G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7857G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2395G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2395G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,C,G,T:79:50:0:0:67,1,10,1:2174,11,256,10:236.40,0.10,0.00,0.07:106.16,0.12,0.00,0.09:130.24,-0.02,0.00,-0.02:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,6,40,20:75.7,26.0,76.0,185.0:0,0,0,0:0,0,0,0:56,120,112,116:94,13,22,35:32,0,10,0:NM_001039703.4(NBPF10) c.9209G>A (p.Gly3070Glu),-:NOT_FOUND,-:NOT_FOUND,- 1 145360649 rs79357135 T A 242 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.04692,A/0.9531,C/.;NP=56;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2330T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7792T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2330T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2330T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:A,C:70:1:0:0:69,1:2096,19:241.88,0.63:3.97,0.00:237.91,0.63:1.00,0.00:0.99,0.00:1.00,0.00:40,30:91.1,148.0:0,0:0,0:79,119:70,31:25,0:NM_001039703.4(NBPF10) c.9274T>A (p.Cys3092Ser),NM_001039703.4(NBPF10) c.9274T>A (p.Cys3092Ser):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145360650 rs77691247 G C 278 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.04692,C/0.9531;NP=64;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2329G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7791G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2329G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2329G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:1:0:0:70:2448:278.19:3.88:274.31:1.00:1.00:1.00:40:91.9:0:0:83:67:25:NM_001039703.4(NBPF10) c.9275G>C (p.Cys3092Ser),NM_001039703.4(NBPF10) c.9275G>C (p.Cys3092Ser):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145360700 rs61813402 C T 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2279C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7741C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2279C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2279C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:90:28:0:0:74,1,15:2184,14,431:0.00,-0.10,32.82:0.00,-0.08,26.89:0.00,-0.02,5.93:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:40,22,40:63.6,14.0,38.5:0,0,0:0,0,0:91,0,32:59,151,116:39,0,7:-,NM_001039703.4(NBPF10) c.9325C>T (p.Arg3109Cys):-,NOT_FOUND:-,NOT_FOUND 1 145360841 . C A 7 sb;end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2138C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7600C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2138C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2138C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,C:33:7:0:0:5,28:108,773:7.15,0.00:8.17,0.00:-1.02,0.00:0.79,0.00:0.64,0.00:0.96,0.00:20,40:36.6,43.4:0,0:0,0:146,56:5,94:2,37:NM_001039703.4(NBPF10) c.9352+114C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145360885 . A C 33 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2094A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7556A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2094A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2094A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:1:0:0:19,11:582,360:0.00,32.68:0.00,-0.20:0.00,32.87:0.00,1.00:0.00,0.58:0.00,1.00:40,16:48.9,60.9:0,0:0,0:35,75:116,74:27,3:-,NM_001039703.4(NBPF10) c.9352+158A>C:-,NOT_FOUND:-,NOT_FOUND 1 145360915 . A G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2064A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7526A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2064A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2064A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:31:1:0:0:27,4:886,127:0.00,9.43:0.00,-0.06:0.00,9.49:0.00,0.64:0.00,0.42:0.00,0.95:40,20:55.4,74.5:0,0:0,0:96,85:53,63:31,24:-,NM_001039703.4(NBPF10) c.9352+188A>G:-,NOT_FOUND:-,NOT_FOUND 1 145360918 . C G 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;NP=4;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2061C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7523C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2061C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2061C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,G:30:1:0:0:24,6:792,201:0.00,16.44:0.00,3.18:0.00,13.27:0.00,0.90:0.00,0.47:0.00,0.99:40,40:62.5,43.5:0,0:0,0:100,53:49,97:16,15:-,NM_001039703.4(NBPF10) c.9352+191C>G:-,NOT_FOUND:-,NOT_FOUND 1 145360924 . T C 9 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2055T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7517T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2055T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2055T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:30:1:0:0:4,26:121,862:8.90,0.00:-0.06,0.00:8.96,0.00:0.64,0.00:0.42,0.00:0.95,0.00:16,40:85.0,54.7:0,0:0,0:112,72:38,78:0,33:NM_001039703.4(NBPF10) c.9352+197T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145360926 rs369157022 C G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2053C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7515C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2053C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2053C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,G:31:1:0:0:26,5:834,173:0.00,13.74:0.00,-0.08:0.00,13.82:0.00,0.80:0.00,0.44:0.00,0.98:42,20:50.3,91.0:0,0:0,0:102,39:45,112:23,2:-,NM_001039703.4(NBPF10) c.9352+199C>G:-,NOT_FOUND:-,NOT_FOUND 1 145360964 rs186842205 C G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2015C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7477C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2015C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2015C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:21:2:0:0:18,3:563,104:0.00,8.09:0.00,-0.10:0.00,8.20:0.00,0.49:0.00,0.39:0.00,0.90:42,40:58.3,59.0:0,0:0,0:87,90:63,61:27,2:-,NM_001039703.4(NBPF10) c.9352+237C>G:-,NOT_FOUND:-,NOT_FOUND 1 145360974 . T G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;NP=2;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2005T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7467T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2005T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2005T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:G,T:19:2:0:0:5,14:156,445:13.24,0.00:3.33,0.00:9.90,0.00:0.86,0.00:0.55,0.00:0.99,0.00:40,50:96.4,46.4:0,0:0,0:87,97:64,53:24,18:NM_001039703.4(NBPF10) c.9352+247T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145360976 . G A 7 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-2003G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7465G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-2003G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-2003G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:A,G:19:2:0:0:3,16:89,517:6.73,0.00:-0.11,0.00:6.85,0.00:0.51,0.00:0.41,0.00:0.90,0.00:15,50:77.3,56.2:0,0:0,0:144,91:7,59:4,17:NM_001039703.4(NBPF10) c.9352+249G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145361035 . T C 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;NP=2;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1944T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7406T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1944T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1944T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:C,T:11:1:0:0:4,7:121,236:10.88,0.00:3.54,0.00:7.34,0.00:0.82,0.00:0.58,0.00:0.98,0.00:40,50:95.2,15.7:0,0:0,0:133,90:17,61:16,37:NM_001039703.4(NBPF10) c.9352+308T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145361115 . GC G 13 nt VT=DEL;SST=Single;DP=7;NP=2;PC=0.217;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1863delC;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7325delC;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1863delC;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1863delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GC,G:7:4:0:5:2,5:71,123:0.00,12.86:0.00,8.02:0.00,4.84:0.00,0.98:0.00,0.99:0.00,0.99:29,27:0.0,2.2:0,0:0,0:76,77:74,73:40,27:-,NM_001039703.4(NBPF10) c.9353-333delC:-,0.16:-,NOT_FOUND 1 145361316 rs61813406 G A 128 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1663G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7125G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1663G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1663G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:35:0:0:35:1109:127.58:127.58:0.00:1.00:1.00:0.00:24:41.3:0:0:38:113:16:NM_001039703.4(NBPF10) c.9353-133G>A,NM_001039703.4(NBPF10) c.9353-133G>A:0.07,0.07:NOT_FOUND,NOT_FOUND 1 145361319 rs200892670 A C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=19;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1660A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-7122A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1660A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1660A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:40:0:0:30,10:973,327:0.00,27.70:0.00,27.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:24,24:30.7,64.1:0,0:0,0:30,35:120,115:21,11:-,NM_001039703.4(NBPF10) c.9353-130A>C:-,NOT_FOUND:-,NOT_FOUND 1 145361463 rs201261741 C A 62 nt VT=SNV;PN=C;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=1;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1516C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-6978C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1516C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1516C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:101:66:0:0:22,78,1:741,2544,6:61.73,0.00,-0.31:40.85,0.00,-0.15:20.88,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:27,40,16:39.1,5.8,45.0:0,0,0:0,0,0:97,76,59:52,75,92:31,15,0:NM_001039703.4(NBPF10) c.9367C>A (p.Gln3123Lys),-:NOT_FOUND,-:NOT_FOUND,- 1 145361688 rs75556298 C T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1291C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-6753C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1291C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1291C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:32:8:0:0:28,4:949,123:0.00,8.98:0.00,7.34:0.00,1.64:0.00,0.63:0.00,0.61:0.00,0.47:24,40:19.1,58.2:0,0:0,0:57,70:88,80:38,37:-,NM_001039703.4(NBPF10) c.9404+188C>T:-,NOT_FOUND:-,NOT_FOUND 1 145361740 rs377364002 T A 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=2;PC=0.056;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1239T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-6701T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1239T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1239T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,T:24:7:0:0:3,21:96,677:7.11,0.00:5.26,0.00:1.85,0.00:0.47,0.00:0.57,0.00:0.82,0.00:40,24:68.7,29.6:0,0:0,0:118,104:33,46:9,20:NM_001039703.4(NBPF10) c.9404+240T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145361782 rs201917838 A G 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10655-1197A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-6659A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8108-1197A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8108-1197A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:15:7:0:0:4,11:135,342:0.00,35.67:0.00,14.96:0.00,20.71:0.00,1.00:0.00,1.00:0.00,1.00:16,24:48.5,37.7:0,0:0,0:94,115:54,35:2,18:-,NM_001039703.4(NBPF10) c.9404+282A>G:-,NOT_FOUND:-,NOT_FOUND 1 145363635 . C G 13 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;PC=0.014;Gene=NBPF20/NM_001278267.1/1;CC=c.10707-44C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-4806C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8160-44C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8160-44C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,G:9:0:0:0:5,4:175,140:0.00,13.22:0.00,0.00:0.00,13.22:0.00,0.85:0.00,0.00:0.00,0.85:20,19:12.6,35.0:0,0:0,0:19,22:132,128:12,5:-,NM_001039703.4(NBPF10) c.9630-44C>G:-,NOT_FOUND:-,NOT_FOUND 1 145363702 . T C 24 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;NP=1;Gene=NBPF20/NM_001278267.1/1;CC=c.10730T>C;ProtCh=p.V3577A;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-4739T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8183T>C;ProtCh=p.V2728A;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.8183T>C;ProtCh=p.V2728A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:8,14:267,438:24.26,0.00:0.00,0.00:24.26,0.00:0.99,0.00:0.00,0.00:0.99,0.00:8,23:61.9,23.3:0,0:0,0:55,68:94,82:18,30:NM_001039703.4(NBPF10) c.9653T>C (p.Val3218Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 145363786 . A T 17 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10814A>T;ProtCh=p.Q3605L;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-4655A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8267A>T;ProtCh=p.Q2756L;VC=Missense;Gene=NBPF10/NM_001302371.1/0;CC=c.8267A>T;ProtCh=p.Q2756L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,T:15:0:0:0:9,6:285,184:0.00,16.88:0.00,0.00:0.00,16.88:0.00,0.96:0.00,0.00:0.00,0.96:23,8:34.1,72.0:0,0:0,0:101,125:50,24:16,20:-,NM_001039703.4(NBPF10) c.9737A>T (p.Gln3246Leu):-,NOT_FOUND:-,NOT_FOUND 1 145365506 rs3872140 G T 182 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2190;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+832G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2935G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+47G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+47G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:G,T:56:13:0:0:5,51:119,1651:0.00,182.31:0.00,34.34:0.00,147.96:0.00,1.00:0.00,1.00:0.00,1.00:23,52:73.8,39.1:0,0:0,0:78,93:73,57:10,34:NM_001039703.4(NBPF10) c.10084+47G>T,NM_001039703.4(NBPF10) c.10084+47G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145365696 rs61813411 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1022C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2745C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+237C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+237C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,G:20:6:0:0:16,4:475,133:0.00,10.87:0.00,2.89:0.00,7.97:0.00,0.71:0.00,0.71:0.00,0.92:50,21:47.4,65.8:0,0:0,0:47,61:103,90:28,15:-,NM_001039703.4(NBPF10) c.10084+237C>G:-,NOT_FOUND:-,NOT_FOUND 1 145365817 rs200211808 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1143G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2624G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+358G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+358G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:7:4:0:0:5,2:146,66:15.14,0.00:8.32,0.00:6.82,0.00:0.98,0.00:0.99,0.00:0.98,0.00:24,50:63.4,0.0:0,0:0,0:133,128:18,22:7,11:NM_001039703.4(NBPF10) c.10084+358G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145365822 . C G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1148C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2619C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+363C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+363C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,G:7:4:0:0:4,3:117,101:0.00,9.46:0.00,6.74:0.00,2.72:0.00,0.69:0.00,0.89:0.00,0.83:50,20:19.0,80.3:0,0:0,0:130,138:20,13:12,7:-,NM_001039703.4(NBPF10) c.10085-357C>G:-,NOT_FOUND:-,NOT_FOUND 1 145365887 rs61813414 C T 15 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1213C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2554C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+428C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+428C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:C,T:6:5:0:0:1,5:23,134:0.00,14.56:0.00,15.34:0.00,-0.78:0.00,0.99:0.00,1.00:0.00,0.89:20,14:0.0,48.6:0,0:0,0:0,37:151,114:0,8:-,NM_001039703.4(NBPF10) c.10085-292C>T:-,NOT_FOUND:-,NOT_FOUND 1 145366096 rs202110480 C T 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1422C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2345C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+637C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+637C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:24:0:0:16,12:455,385:0.00,35.94:0.00,36.90:0.00,-0.96:0.00,1.00:0.00,1.00:0.00,0.89:40,21:21.1,75.4:0,0:0,0:71,125:79,25:40,18:-,NM_001039703.4(NBPF10) c.10085-83C>T:-,NOT_FOUND:-,NOT_FOUND 1 145366147 rs201370166 A C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=141;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1473A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2294A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+688A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+688A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,C:22:18:0:0:16,6:458,211:0.00,18.37:0.00,18.92:0.00,-0.55:0.00,0.93:0.00,0.99:0.00,0.72:40,21:18.8,59.2:0,0:0,0:72,127:78,23:40,7:-,NM_001039703.4(NBPF10) c.10085-32A>C:-,NOT_FOUND:-,NOT_FOUND 1 145366248 . T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1574T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2193T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+789T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+789T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:C,T:26:13:0:0:3,23:93,729:6.70,0.00:-0.69,0.00:7.39,0.00:0.45,0.00:0.71,0.00:0.71,0.00:21,40:31.0,19.7:0,0:0,0:15,74:135,77:0,54:NM_001039703.4(NBPF10) c.10136+18T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145366354 rs78854211 T G 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1680T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2087T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+895T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+895T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:33:0:0:0:19,14:602,454:59.48,0.00:0.00,0.00:59.48,0.00:1.00,0.00:0.00,0.00:1.00,0.00:21,48:45.3,10.2:0,0:0,0:98,87:50,63:7,31:NM_001039703.4(NBPF10) c.10136+124T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145366418 rs61813416 G C 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=6;NP=96;PC=0.055;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1744G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-2023G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+959G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+959G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,G:16:2:0:0:4,12:138,351:11.81,0.00:3.25,0.00:8.56,0.00:0.75,0.00:0.53,0.00:0.96,0.00:40,57:77.5,31.8:0,0:0,0:39,80:112,70:16,44:NM_001039703.4(NBPF10) c.10136+188G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145366463 rs61813417 C T 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=276;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+1789C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1978C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1004C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1004C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:22:8:0:0:14,1,7:415,12,226:0.00,0.19,20.14:0.00,-0.10,6.97:0.00,0.29,13.18:0.00,0.00,0.97:0.00,0.00,0.93:0.00,0.00,0.99:57,18,40:16.6,204.0,65.7:0,0,0:0,0,0:57,80,64:90,54,86:27,0,41:-,NM_001039703.4(NBPF10) c.10136+233C>T:-,NOT_FOUND:-,NOT_FOUND 1 145366695 rs833394 G A 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2021G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1746G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1236G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1236G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G,T:75:73:0:0:10,64,1:319,2002,11:23.96,0.00,-0.20:21.05,0.00,-0.20:2.91,0.00,-0.01:0.98,0.00,0.00:1.00,0.00,0.00:0.40,0.00,0.00:40,58,30:89.8,13.9,11.0:0,0,0:0,0,0:22,48,143:127,100,7:8,27,0:NM_001039703.4(NBPF10) c.10137-132G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145366738 rs80305492 A T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=103;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2064A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1703A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1279A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1279A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:88:79:0:0:74,2,12:2444,11,406:0.00,-0.62,31.25:0.00,-0.48,27.42:0.00,-0.14,3.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.48:56,40,40:13.6,157.0,85.4:0,0,0:0,0,0:57,61,61:93,76,88:35,29,9:-,NM_001039703.4(NBPF10) c.10137-89A>T:-,NOT_FOUND:-,NOT_FOUND 1 145366796 . G A 73 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=162;NP=1;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2122G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1645G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1337G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1337G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:162:130:0:0:30,132:921,4117:72.75,0.00:76.13,0.00:-3.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:48.4,21.8:0,0:0,0:25,51:126,99:21,29:NM_001039703.4(NBPF10) c.10137-31G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145366857 rs111300665 G T 189 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=263;DB;DBA=NA;PAF=NA;NP=108;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2183G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1584G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1398G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1398G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:263:202:0:0:194,69:6193,2220:0.00,189.25:0.00,193.76:0.00,-4.51:0.00,1.00:0.00,1.00:0.00,1.00:40,40:14.8,43.4:0,0:0,0:64,50:85,101:30,27:-,NM_001039703.4(NBPF10) c.10167G>T (p.Glu3389Asp):-,NOT_FOUND:-,NOT_FOUND 1 145367014 rs3010127 G A 209 nt VT=SNV;PN=T;NN=T;SST=Single;DP=354;DB;DBA=NA;PAF=NA;NP=823;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2340G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1427G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1555G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1555G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:354:191:0:0:80,1,273:2533,10,9134:209.49,-0.32,0.00:95.86,-0.14,0.00:113.63,-0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,13,45:61.5,139.0,14.6:0,0,0:0,0,0:85,92,86:66,54,64:12,0,26:NM_001039703.4(NBPF10) c.10309+15G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145367080 rs138242037 A G 298 nt VT=SNV;PN=T;NN=C;SST=Single;DP=296;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2406A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1361A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1621A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1621A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:296:54:0:0:192,1,101,2:5618,8,3313,22:0.00,-0.23,297.54,-0.40:0.00,-0.02,26.06,0.10:0.00,-0.21,271.48,-0.50:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,40,60,40:41.3,8.0,43.6,98.5:0,0,0,0:0,0,0,0:102,150,102,135:46,1,49,8:37,0,27,12:-,NM_001039703.4(NBPF10) c.10309+81A>G:-,0.09:-,NOT_FOUND 1 145367083 rs10910796 G C 174 nt VT=SNV;PN=T;NN=A;SST=Single;DP=284;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2409G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1358G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1624G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1624G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:284:51:0:0:2,67,213,2:26,2093,6878,17:-0.24,174.41,0.00,-0.55:0.29,37.01,0.00,-0.03:-0.53,137.40,0.00,-0.52:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,60,60,43:98.0,87.2,28.2,220.0:0,0,0,0:0,0,0,0:107,63,105,52:43,88,44,98:38,44,27,3:NM_001039703.4(NBPF10) c.10309+84G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145367094 rs3010128 C T 155 nt VT=SNV;PN=A;NN=G;SST=Single;DP=253;DB;DBA=NA;PAF=NA;PC=0.036;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2420C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1347C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1635C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1635C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:253:33:0:0:196,57:5597,1863:0.00,155.05:0.00,22.29:0.00,132.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.6,93.5:0,0:0,0:104,45:47,105:28,24:-,NM_001039703.4(NBPF10) c.10309+95C>T:-,NOT_FOUND:-,NOT_FOUND 1 145367178 rs3010129 T G 203 nt VT=SNV;PN=G;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2504T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1263T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1719T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1719T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:141:8:0:0:66,75:2141,2352:203.25,0.00:7.40,0.00:195.86,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:75.6,32.3:0,0:0,0:93,91:57,60:32,36:NM_001039703.4(NBPF10) c.10309+179T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 145367229 rs113849871 G C 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=358;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2555G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-1212G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+1770G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+1770G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:94:4:0:0:27,67:810,2158:69.40,0.00:6.59,0.00:62.81,0.00:1.00,0.00:0.75,0.00:1.00,0.00:60,60:56.2,35.8:0,0:0,0:99,110:52,40:27,28:NM_001039703.4(NBPF10) c.10309+230G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145367466 rs3929731 C G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=819;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2792C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-975C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2007C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2007C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:15:9:0:0:9,6:281,208:0.00,19.28:0.00,9.51:0.00,9.77:0.00,0.96:0.00,0.98:0.00,0.94:60,60:17.7,40.3:0,0:0,0:11,56:139,94:5,31:-,NM_001039703.4(NBPF10) c.10310-248C>G:-,NOT_FOUND:-,NOT_FOUND 1 145367657 rs61813432 T G 51 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+2983T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-784T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2198T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2198T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:43:37:0:0:18,25:555,772:51.37,0.00:53.25,0.00:-1.88,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,51:52.1,6.9:0,0:0,0:36,57:106,94:27,38:NM_001039703.4(NBPF10) c.10310-57T>G,-:0.31,-:NOT_FOUND,- 1 145367863 rs78014802 A T 151 nt VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=2684;PC=0.122;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3189A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-578A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2404A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2404A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:84:25:0:0:37,47:1097,1531:0.00,150.52:0.00,21.45:0.00,129.07:0.00,1.00:0.00,1.00:0.00,1.00:57,58:31.9,88.3:0,0:0,0:98,113:47,38:29,25:-,NM_001039703.4(NBPF10) c.10418+41A>T:-,NOT_FOUND:-,NOT_FOUND 1 145367906 rs61813433 A T 92 nt VT=SNV;PN=G;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2335;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3232A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-535A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2447A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2447A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:56:6:0:0:26,1,29:791,9,950:0.00,-0.07,92.31:0.00,-0.02,4.75:0.00,-0.06,87.55:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:54,51,49:10.4,103.0,132.4:0,0,0:0,0,0:95,116,108:55,35,43:28,0,27:-,NM_001039703.4(NBPF10) c.10418+84A>T:-,NOT_FOUND:-,NOT_FOUND 1 145367910 rs74347725 G A 77 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1589;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3236G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-531G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2451G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2451G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:4:0:0:25,31:822,988:77.42,0.00:1.12,0.00:76.30,0.00:1.00,0.00:0.91,0.00:1.00,0.00:40,52:137.0,23.0:0,0:0,0:101,101:47,50:32,29:NM_001039703.4(NBPF10) c.10418+88G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145367919 rs77463801 G A 62 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=1632;PC=0.030;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3245G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-522G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2460G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2460G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:51:3:0:0:22,28,1:662,928,9:61.74,0.00,-0.10:1.44,0.00,-0.01:60.31,0.00,-0.09:1.00,0.00,0.00:0.83,0.00,0.00:1.00,0.00,0.00:40,52,16:142.3,22.3,54.0:0,0,0:0,0,0:104,109,38:45,42,113:25,28,0:NM_001039703.4(NBPF10) c.10418+97G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145367982 . C T 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;NP=65;PC=0.995;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3308C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-459C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2523C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2523C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T:20:2:0:0:16,4:525,109:0.00,8.48:0.00,0.79:0.00,7.68:0.00,0.71:0.00,0.47:0.00,0.95:50,40:33.5,134.5:0,0:0,0:110,107:40,43:19,14:-,NM_001039703.4(NBPF10) c.10418+160C>T:-,NOT_FOUND:-,NOT_FOUND 1 145368115 rs11803896 C A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=214;PC=0.021;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3441C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-326C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2656C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2656C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,C,T:13:12:0:0:6,6,1:166,179,10:15.79,0.00,0.27:12.34,0.00,0.27:3.44,0.00,0.00:0.97,0.00,0.00:1.00,0.00,0.00:0.64,0.00,0.00:40,60,40:99.2,33.5,83.0:0,0,0:0,0,0:34,40,133:107,107,18:9,18,0:NM_001039703.4(NBPF10) c.10418+293C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 145368146 rs11802634 G C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=245;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3472G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3091-295G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+2687G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+2687G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,G:13:12:0:0:7,6:235,184:22.96,0.00:19.35,0.00:3.61,0.00:0.99,0.00:1.00,0.00:0.69,0.00:40,60:105.0,11.8:0,0:0,0:60,56:80,94:8,32:NM_001039703.4(NBPF10) c.10419-295G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 145368461 rs12128680 A C 114 nt VT=SNV;PN=G;NN=A;SST=Single;DP=200;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3787A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3111A>C;ProtCh=p.G1037=;VC=Silent;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+3002A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+3002A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:200:145:0:0:160,40:5175,1384:0.00,114.04:0.00,68.95:0.00,45.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,42.3:0,0:0,0:83,81:66,68:24,31:-,NM_001039703.4(NBPF10) c.10439A>C (p.Glu3480Ala):-,NOT_FOUND:-,NOT_FOUND 1 145368518 rs61813437 C T 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=177;DB;DBA=NA;PAF=NA;NP=1599;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+3844C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3168C>T;ProtCh=p.V1056=;VC=Silent;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+3059C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+3059C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,T:177:93:0:0:163,14:5316,450:0.00,30.45:0.00,22.35:0.00,8.10:0.00,1.00:0.00,0.99:0.00,1.00:60,50:11.1,67.9:0,0:0,0:82,72:66,78:37,31:-,NM_001039703.4(NBPF10) c.10496C>T (p.Ser3499Leu):-,NOT_FOUND:-,NOT_FOUND 1 145368837 rs7414890 C A 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3025;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+4163C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.*153C>A;VC=3UTR;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+3378C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+3378C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:14:0:0:0:8,6:261,209:25.76,0.00:0.00,0.00:25.76,0.00:1.00,0.00:0.00,0.00:1.00,0.00:55,50:45.2,31.0:0,0:0,0:125,69:25,81:13,41:chr1 g.145368836C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145368871 rs7416122 A G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=3094;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+4197A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.*187A>G;VC=3UTR;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+3412A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+3412A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:292:33.49:0.00:33.49:1.00:0.00:1.00:42:49.3:0:0:101:49:38:chr1 g.145368870A>G (intergenic),chr1 g.145368870A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145382222 rs72701838 A G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17548A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+16763A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+16763A>G;VC=Intron;Gene=LOC101928979/NR_125967.1/0;VC=NonCoding;Gene=LOC101928979/NR_125968.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,G:6:6:0:0:1,5:12,120:0.00,13.20:0.00,13.20:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:66.0,158.2:0,0:0,0:5,46:146,97:0,9:-,chr1 g.145382221A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382228 rs72701839 A G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.058;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17554A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+16769A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+16769A>G;VC=Intron;Gene=LOC101928979/NR_125967.1/0;VC=NonCoding;Gene=LOC101928979/NR_125968.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G:8:8:0:0:3,5:75,127:0.00,12.80:0.00,12.80:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:22.0,158.2:0,0:0,0:3,52:146,91:3,9:-,chr1 g.145382227A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382264 rs74119634 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.017;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17590C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+16805C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+16805C>T;VC=Intron;Gene=LOC101928979/NR_125967.1/0;VC=NonCoding;Gene=LOC101928979/NR_125968.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,T:11:11:0:0:5,6:167,176:0.00,17.17:0.00,17.17:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:19.2,144.3:0,0:0,0:36,84:115,61:11,22:-,chr1 g.145382263C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382371 rs74119635 A G 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17697A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+16912A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+16912A>G;VC=Intron;Gene=LOC101928979/NR_125967.1/0;VC=NonCoding;Gene=LOC101928979/NR_125968.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:33:0:0:21,12:693,363:0.00,32.61:0.00,29.61:0.00,3.00:0.00,1.00:0.00,1.00:0.00,0.96:60,60:33.4,113.1:0,0:0,0:41,46:110,104:30,18:-,chr1 g.145382370A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382407 rs542065471 A G 180 nt VT=SNV;PN=G;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17733A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+16948A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+16948A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:46:0:0:48:1576:180.49:141.22:39.27:1.00:1.00:1.00:60:68.4:0:0:45:100:29:chr1 g.145382406A>G (intergenic),chr1 g.145382406A>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 145382440 rs72701841 G A 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=13;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17766G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+16981G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+16981G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:61:0:0:27,40:915,1232:84.79,0.00:59.36,0.00:25.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.3,45.1:0,0:0,0:30,56:120,83:15,23:chr1 g.145382439G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145382494 rs376900288 A G 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=90;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17820A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17035A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17035A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:116:94:0:0:82,34:2712,1136:0.00,99.36:0.00,54.50:0.00,44.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.9,50.1:0,0:0,0:51,68:92,77:28,35:-,chr1 g.145382493A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382511 rs72475584 G A 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=108;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17837G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17052G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17052G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:124:101:0:0:30,93,1:1025,2902,11:87.16,0.00,-0.22:42.72,0.00,-0.11:44.44,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,24:74.6,49.5,95.0:0,0,0:0,0,0:82,45,97:54,101,54:19,23,0:chr1 g.145382510G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145382538 . C G 109 nt VT=SNV;PN=G;NN=C;SST=Single;DP=139;NP=578;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17864C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17079C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17079C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:139:108:0:0:101,37,1:3392,1265,32:0.00,109.32,1.23:0.00,70.57,-0.18:0.00,38.76,1.41:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,57,55:48.7,87.2,67.0:0,0,0:0,0,0:76,60,28:74,89,123:40,20,0:-,chr1 g.145382537C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382547 . G A 118 nt VT=SNV;PN=G;NN=G;SST=Single;DP=137;NP=661;PC=0.981;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17873G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17088G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17088G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:137:106:0:0:39,98:1348,3080:117.89,0.00:73.94,0.00:43.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:87.6,47.1:0,14:0,0:66,80:82,69:23,34:chr1 g.145382546G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145382553 rs142182499 CT C 107 idl,nt VT=DEL;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=439;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17880delT;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17095delT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17095delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:121:95:0:57:81,40:2780,1216:0.00,107.30:0.00,64.45:0.00,42.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.8,79.4:0,0:0,0:75,77:73,71:36,19:-,chr1 g.145382554delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382575 rs376982915 G A 36 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=5;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17901G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17116G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:134:103:0:0:17,115,2:500,3721,24:36.28,0.00,-0.31:15.02,0.00,-0.01:21.26,0.00,-0.30:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:56,60,60:55.8,60.7,83.5:17,0,0:0,0,0:106,70,99:45,75,36:22,28,29:chr1 g.145382574G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145382633 rs3121126 T A 372 nt VT=SNV;PN=G;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17959T>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17174T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17174T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:99:65:0:0:99:3246:371.69:201.32:170.37:1.00:1.00:1.00:60:71.0:0:0:105:32:21:chr1 g.145382632T>A (intergenic),chr1 g.145382632T>A (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 145382664 rs66912466 T TG 38 sb,rn VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=416;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17996dupG;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17211dupG;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17211dupG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TG:63:40:17:0:2,44,17:20,1398,453:0.04,0.00,37.72:-0.20,0.00,41.14:0.24,0.00,-3.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:113.5,90.3,40.8:0,0,0:0,0,0:136,123,85:-4,17,56:14,19,18:-,chr1 g.145382664_145382665insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382665 . G C 41 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=61;PC=0.015;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17991G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17206G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17206G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:61:35:0:0:15,46:483,1463:40.69,0.00:7.79,0.00:32.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:120.2,58.3:13,16:0,0:105,87:37,57:11,47:chr1 g.145382664G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145382667 . G C 29 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;PC=0.017;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17993G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17208G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17208G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:59:35:0:0:12,47:363,1430:29.10,0.00:3.77,0.00:25.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:118.2,59.5:12,18:0,0:107,89:36,58:10,46:chr1 g.145382666G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145382669 . GGAGGGGGGGT G 31 sb;idl,nt VT=DEL;SST=Single;DP=59;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17997_10988+18006delAGGGGGGGTG;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17212_8614+17221delAGGGGGGGTG;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17212_8614+17221delAGGGGGGGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGAGGGGGGGT,G:59:34:0:13:46,13:1353,384:0.00,31.12:0.00,0.94:0.00,30.17:0.00,1.00:0.00,1.00:0.00,1.00:60,59:59.9,116.2:18,13:0,0:86,109:56,36:45,11:-,chr1 g.145382670_145382679delGAGGGGGGGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382671 rs7520253 A G 67 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.8442,T/0.1558;NP=141;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17997A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17212A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17212A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,D:41:28:0:14:14,24,2,1:370,666,24,26:0.00,67.07,0.69,1.32:0.00,29.94,0.19,1.32:0.00,37.13,0.50,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:38.9,78.8,32.0,28.0:0,0,0,0:0,0,0,0:93,53,65,4:51,66,76,147:21,36,40,0:-,chr1 g.145382670A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382672 rs7551893 G A 12 sb;idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.8662,C/0.1338;NP=105;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+17998G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17213G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17213G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:37:25:0:14:7,30:160,832:11.60,0.00:10.73,0.00:0.87,0.00:0.94,0.00:0.98,0.00:0.90,0.00:60,60:95.0,49.7:0,0:0,0:57,83:72,55:32,43:chr1 g.145382671G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 145382689 . GC G 32 sb;idl,nt VT=DEL;SST=Single;DP=54;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+18016delC;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17231delC;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17231delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,T,G:54:28:0:13:40,1,13:1249,12,388:0.00,-0.07,32.20:0.00,-0.18,1.43:0.00,0.11,30.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,59:49.9,74.0,116.2:0,0,13:0,0,0:66,45,119:64,66,26:41,0,11:-,chr1 g.145382690delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 145382743 rs72506238 GA G 103 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+18070delA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+17285delA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+17285delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:GA,G:34:14:0:31:3,31:84,928:0.00,103.17:0.00,23.17:0.00,80.00:0.00,1.00:0.00,1.00:0.00,1.00:54,60:99.3,38.5:0,0:0,0:146,92:1,51:2,22:-,chr1 g.145382744delA (intergenic):-,0.98:-,NOT_FOUND 1 145414879 . G . . NT END=145415278;NT GT ./. 1 145415839 . G . . NT END=145416312;NT GT ./. 1 145416937 . G . . NT END=145438802;NT GT ./. 1 145438578 rs833392 C A 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=476;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+73904C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+73119C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+73119C>A;VC=Intron;Gene=TXNIP/NM_006472.4/1;CC=c.-225C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:303:35.06:35.06:0.00:1.00:1.00:0.00:60:76.3:0:0:57:93:22:NM_006472.3(TXNIP) c.=,NM_006472.3(TXNIP) c.=:1,1:NOT_FOUND,NOT_FOUND 1 145438581 rs9245 C A 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8888,G/0.1112;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+73907C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+73122C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+73122C>A;VC=Intron;Gene=TXNIP/NM_006472.4/1;CC=c.-222C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,C:10:10:0:0:6,4:172,127:17.08,0.00:17.08,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:65.2,93.0:0,0:0,0:69,40:82,110:9,22:NM_006472.3(TXNIP) c.-222C>A,-:0.12,-:NOT_FOUND,- 1 145439053 . G . . NT END=145439592;NT GT ./. 1 145439666 . G . . NT END=145439777;NT GT ./. 1 145439926 . G . . NT END=145440037;NT GT ./. 1 145440141 . G . . NT END=145440268;NT GT ./. 1 145440526 . G . . NT END=145440631;NT GT ./. 1 145440789 . G . . NT END=145440901;NT GT ./. 1 145441054 . G . . NT END=145441182;NT GT ./. 1 145441219 . G . . NT END=145456636;NT GT ./. 1 145456724 . C . . NT END=145456990;NT GT ./. 1 145456732 rs375314716 GA G 6 idl,rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=9;PC=0.158;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+92072delA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+91287delA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+91287delA;VC=Intron;Gene=POLR3GL/NM_032305.1/1;CC=c.571-10delT;VC=Intron;DM=POLR3GL/RNA_pol_3_Rpc31;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:GA,T,I,G:39:31:4:5:33,1,2,3:1009,11,132,160:0.00,-0.08,4.11,6.43:0.00,0.08,1.99,4.51:0.00,-0.16,2.11,1.92:0.00,0.00,0.00,0.36:0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.72:60,60,60,60:26.3,34.0,26.5,25.0:0,0,2,2:0,0,0,0:90,102,84,88:56,22,61,63:29,0,23,41:-,NM_032305.1(POLR3GL) c.571-10delT:-,NOT_FOUND:-,NOT_FOUND 1 145457105 . C . . NT END=145457235;NT GT ./. 1 145457310 . C . . NT END=145457547;NT GT ./. 1 145457605 . C . . NT END=145457934;NT GT ./. 1 145458004 . C . . NT END=145459651;NT GT ./. 1 145458154 . CT C 6 rn VT=DEL;SST=Single;DP=13;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+93500delT;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+92715delT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+92715delT;VC=Intron;Gene=POLR3GL/NM_032305.1/1;CC=c.257-152delA;VC=Intron;DM=POLR3GL/RNA_pol_3_Rpc31;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:CT,T,I,C:12:0:2:3:7,1,1,3:229,10,45,76:0.00,0.23,1.72,6.33:0.00,0.00,0.00,0.00:0.00,0.23,1.72,6.33:0.00,0.00,0.00,0.58:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.58:60,40,60,70:29.1,231.0,163.0,23.7:0,0,2,0:0,0,0,0:129,121,113,97:22,-6,37,52:17,0,2,33:-,NM_032305.1(POLR3GL) c.257-152delA:-,NOT_FOUND:-,NOT_FOUND 1 145459782 . C . . NT END=145460096;NT GT ./. 1 145460223 . G . . NT END=145473328;NT GT ./. 1 145474820 . G . . NT END=145477158;NT GT ./. 1 145477257 rs2282013 T C 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+112583T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+111798T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+111798T>C;VC=Intron;Gene=LIX1L/NM_153713.2/1;CC=c.99T>C;ProtCh=p.A33=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:105:74:0:0:49,56:1518,1828:143.60,0.00:78.62,0.00:64.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,11.1:0,0:0,0:101,99:49,47:28,35:NM_153713.1(LIX1L) c.99T>C (p.(=)),-:0.12,-:NOT_FOUND,- 1 145477451 . G . . NT END=145487303;NT GT ./. 1 145487468 . G . . NT END=145492234;NT GT ./. 1 145492376 . G . . NT END=145497392;NT GT ./. 1 145497489 . G . . NT END=145498102;NT GT ./. 1 145498181 . G . . NT END=145498535;NT GT ./. 1 145498779 . G . . NT END=145507666;NT GT ./. 1 145507734 . G . . NT END=145508015;NT GT ./. 1 145507826 rs872786 A T 64 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=in-clinvar;PAF=T/0.7113,A/0.2887;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+143152A>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+142367A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+142367A>T;VC=Intron;Gene=RBM8A/NM_005105.4/1;CC=c.67+93A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:12:0:0:23,21:694,675:0.00,64.34:0.00,25.78:0.00,38.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,45.8:0,0:0,0:123,88:28,63:22,41:-,NM_005105.3(RBM8A) c.67+93A>T:-,0.29:-,NOT_FOUND 1 145508076 . G . . NT END=145508206;NT GT ./. 1 145508285 . G . . NT END=145508474;NT GT ./. 1 145508612 . G . . NT END=145508915;NT GT ./. 1 145509053 . G . . NT END=145509165;NT GT ./. 1 145509212 . C . . NT END=145516400;NT GT ./. 1 145516457 . G . . NT END=145516559;NT GT ./. 1 145517063 rs10910821 G A 179 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.3221,C/0.6779;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+152389G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+151604G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+151604G>A;VC=Intron;Gene=PEX11B/NM_003846.2/1;CC=c.57-210G>A;VC=Intron;Gene=PEX11B/NR_073491.1/0;VC=NonCoding;Gene=PEX11B/NR_073492.1/0;VC=NonCoding;Gene=PEX11B/NM_001184795.1/0;CC=c.15-210G>A;VC=Intron;Gene=PEX11B/NR_073493.2/0;VC=NonCoding;DM=PEX11B/PEX11;DM=PEX11B/PEX11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:A,G:51:33:0:0:50,1:1568,10:178.88,0.00:92.51,0.00:86.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,12.0:0,0:0,0:105,89:45,62:36,0:NM_003846.2(PEX11B) c.57-210G>A,NM_003846.2(PEX11B) c.57-210G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 145517135 . G . . NT END=145517272;NT GT ./. 1 145517389 . G . . NT END=145518070;NT GT ./. 1 145518273 . G . . NT END=145522513;NT GT ./. 1 145522920 . C . . NT END=145525065;NT GT ./. 1 145525118 . G . . NT END=145527440;NT GT ./. 1 145528038 . G . . NT END=145528253;NT GT ./. 1 145528346 . G . . NT END=145528569;NT GT ./. 1 145528685 . G . . NT END=145530266;NT GT ./. 1 145530254 rs74119688 C T 83 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.8666,G/0.1334;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+165580C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+164795C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+164795C>T;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.89-13C>T;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.53-13C>T;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.482-13C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:38:0:0:22,25:706,847:0.00,82.52:0.00,48.70:0.00,33.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,36.7:0,0:0,0:50,62:98,80:24,32:-,NM_003637.3(ITGA10) c.482-13C>T:-,0.14:-,0.125327 1 145530395 . G . . NT END=145530877;NT GT ./. 1 145531027 . G . . NT END=145532114;NT GT ./. 1 145531980 rs4384171 T C 99 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.01198,A/0.988;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+167306T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+166521T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+166521T>C;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.366-135T>C;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.330-135T>C;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.759-135T>C;VC=Intron;DM=ITGA10/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:28:0:0:28:861:99.41:97.47:1.94:1.00:1.00:1.00:60:52.2:0:0:45:95:30:NM_003637.3(ITGA10) c.759-135T>C,NM_003637.3(ITGA10) c.759-135T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 145532010 . C CTGTG 10 idl,rn VT=INS;SST=Single;DP=36;NP=20;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+167377_10988+167378insGTGT;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+166592_8614+166593insGTGT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+166592_8614+166593insGTGT;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.366-64_366-63insGTGT;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.330-64_330-63insGTGT;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.759-64_759-63insGTGT;VC=Intron;DM=ITGA10/VWA;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T,CTGTG,D:33:36:6:3:26,1,4,2:782,12,197,100:0.00,0.03,9.77,4.60:0.00,0.06,9.92,4.68:0.00,-0.04,-0.15,-0.08:0.00,0.00,0.61,0.00:0.00,0.00,0.61,0.00:0.00,0.00,0.48,0.00:60,60,60,60:53.1,73.0,72.0,91.5:0,0,2,1:0,0,0,0:46,119,31,54:84,32,109,97:28,0,18,40:-,NM_003637.3(ITGA10) c.759-105_759-104insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 145532052 rs28369274 A G 10 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1641;NP=3;PC=0.981;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+167378A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+166593A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+166593A>G;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.366-63A>G;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.330-63A>G;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.759-63A>G;VC=Intron;DM=ITGA10/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,C,G:37:33:0:0:29,1,7:700,12,142:0.00,-0.00,9.95:0.00,0.10,9.04:0.00,-0.10,0.90:0.00,0.00,0.94:0.00,0.00,0.99:0.00,0.00,0.90:60,60,60:32.3,74.0,59.0:0,0,0:0,0,0:58,73,83:90,41,43:28,0,14:-,NM_003637.3(ITGA10) c.759-63A>G:-,NOT_FOUND:-,NOT_FOUND 1 145532266 . G . . NT END=145532456;NT GT ./. 1 145532549 rs1328584 T C 300 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.01198,A/0.988;PC=0.997;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+167875T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+167090T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+167090T>C;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.609T>C;ProtCh=p.F203=;VC=Silent;Gene=ITGA10/NM_001303041.1/0;CC=c.573T>C;ProtCh=p.F191=;VC=Silent;Gene=ITGA10/NM_003637.4/1;CC=c.1002T>C;ProtCh=p.F334=;VC=Silent;DM=ITGA10/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:78:50:0:0:78:2632:300.34:155.94:144.40:1.00:1.00:1.00:60:36.9:0:0:64:87:35:NM_003637.3(ITGA10) c.=,NM_003637.3(ITGA10) c.=:0.99,0.99:0.988159,0.988159 1 145532623 . G . . NT END=145532756;NT GT ./. 1 145532831 . G . . NT END=145533054;NT GT ./. 1 145533200 . G . . NT END=145533411;NT GT ./. 1 145533561 . G . . NT END=145533797;NT GT ./. 1 145533942 . G . . NT END=145534082;NT GT ./. 1 145534287 . G . . NT END=145534888;NT GT ./. 1 145535020 . G . . NT END=145535734;NT GT ./. 1 145535549 . CA C 8 idl,rn VT=DEL;SST=Single;DP=17;NP=6;PC=0.012;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+170888delA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+170103delA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+170103delA;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.1530-173delA;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.1494-173delA;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.1923-173delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:CA,I,C:15:17:3:4:10,2,3:335,92,129:0.00,4.95,7.93:0.00,4.95,7.93:0.00,0.00,0.00:0.00,0.00,0.53:0.00,0.00,0.53:0.00,0.00,0.00:60,60,60:24.6,49.5,68.7:0,1,1:0,0,0:37,9,56:113,140,94:32,3,41:-,NM_003637.3(ITGA10) c.1923-185delA:-,NOT_FOUND:-,NOT_FOUND 1 145535611 rs4970851 T G 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.4135,A/0.5865;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+170937T>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+170152T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+170152T>G;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.1530-124T>G;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.1494-124T>G;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.1923-124T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:G,T:24:24:0:0:17,7:475,186:49.32,0.00:49.32,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.5,21.9:0,0:0,0:53,71:97,80:23,22:NM_003637.3(ITGA10) c.1923-124T>G,-:0.6,-:NOT_FOUND,- 1 145535902 . G . . NT END=145535997;NT GT ./. 1 145535921 rs2274617 T C 189 nt VT=SNV;PN=T;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.4123,A/0.5877;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+171247T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+170462T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+170462T>C;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.1696+20T>C;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.1660+20T>C;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.2089+20T>C;VC=Intron;DM=ITGA10/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:119:69:0:0:2,61,56:16,1951,1761:-0.22,188.96,0.00:0.03,96.88,0.00:-0.25,92.08,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:29.5,36.5,6.1:0,0,0:0,0,0:117,59,70:31,92,80:14,35,39:NM_003637.3(ITGA10) c.2089+20T>C,-:0.6,-:0.668076,- 1 145536141 . G . . NT END=145536852;NT GT ./. 1 145536967 . G . . NT END=145537175;NT GT ./. 1 145537262 . G . . NT END=145537422;NT GT ./. 1 145537565 . G . . NT END=145537736;NT GT ./. 1 145537830 . G . . NT END=145537988;NT GT ./. 1 145538066 . G . . NT END=145538217;NT GT ./. 1 145538308 . G . . NT END=145538723;NT GT ./. 1 145538664 rs1109216 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+173990A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+173205A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+173205A>G;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.2442-60A>G;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.2406-60A>G;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.2835-60A>G;VC=Intron;DM=ITGA10/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:15:13:0:0:10,5:338,169:0.00,15.14:0.00,12.48:0.00,2.66:0.00,0.89:0.00,0.99:0.00,0.64:60,60:1.2,58.2:0,0:0,0:24,24:126,120:13,2:-,NM_003637.3(ITGA10) c.2835-60A>G:-,0.6:-,NOT_FOUND 1 145538809 . G . . NT END=145538979;NT GT ./. 1 145538871 rs61814243 A G 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.9854,C/0.01458;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+174197A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+173412A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+173412A>G;VC=Intron;Gene=ITGA10/NM_001303040.1/0;CC=c.2526+63A>G;VC=Intron;Gene=ITGA10/NM_001303041.1/0;CC=c.2490+63A>G;VC=Intron;Gene=ITGA10/NM_003637.4/1;CC=c.2919+63A>G;VC=Intron;DM=ITGA10/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:18:0:0:16,19:464,630:0.00,61.63:0.00,32.20:0.00,29.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,34.3:0,0:0,0:109,78:42,73:34,37:-,NM_003637.3(ITGA10) c.2919+63A>G:-,0.02:-,NOT_FOUND 1 145539094 . G . . NT END=145539364;NT GT ./. 1 145539446 . G . . NT END=145539682;NT GT ./. 1 145539797 . G . . NT END=145541440;NT GT ./. 1 145541537 . G . . NT END=145541801;NT GT ./. 1 145541916 . G . . NT END=145542212;NT GT ./. 1 145542279 . A . . NT END=145549316;NT GT ./. 1 145549356 . G . . NT END=145555691;NT GT ./. 1 145555653 rs6424379 C T 97 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.5935,G/0.4065;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+190979C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+190194C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+190194C>T;VC=Intron;Gene=ANKRD35/NM_001280799.1/0;CC=c.34-1439C>T;VC=Intron;Gene=ANKRD35/NM_144698.4/1;CC=c.40-39C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:63:0:0:40,31:1214,1029:0.00,96.57:0.00,67.10:0.00,29.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,42.5:0,0:0,0:42,56:109,90:21,32:-,NM_144698.3(ANKRD35) c.40-39C>T:-,0.44:-,0.537598 1 145555823 . G . . NT END=145556600;NT GT ./. 1 145556690 . G . . NT END=145557047;NT GT ./. 1 145557113 . G . . NT END=145558207;NT GT ./. 1 145558266 . G . . NT END=145558441;NT GT ./. 1 145558513 . G . . NT END=145558834;NT GT ./. 1 145558565 rs11801520 C G 134 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.05312,G/0.9469;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+193891C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+193106C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+193106C>G;VC=Intron;Gene=ANKRD35/NM_001280799.1/0;CC=c.183+53C>G;VC=Intron;Gene=ANKRD35/NM_144698.4/1;CC=c.453+53C>G;VC=Intron;DM=ANKRD35/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:14:0:0:35:1178:134.49:37.96:96.52:1.00:1.00:1.00:60:41.5:0:0:72:78:37:NM_144698.3(ANKRD35) c.453+53C>G,NM_144698.3(ANKRD35) c.453+53C>G:0.96,0.96:0.952694,0.952694 1 145558942 . G . . NT END=145560074;NT GT ./. 1 145559918 . CA C 8 rn VT=DEL;SST=Single;DP=15;NP=5;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+195257delA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+194472delA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+194472delA;VC=Intron;Gene=ANKRD35/NM_001280799.1/0;CC=c.291-144delA;VC=Intron;Gene=ANKRD35/NM_144698.4/1;CC=c.561-144delA;VC=Intron;DM=ANKRD35/Ank_2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CA,I,C:14:15:2:3:10,1,3:304,63,92:0.00,2.20,7.57:0.00,2.20,7.57:0.00,0.00,0.00:0.00,0.00,0.55:0.00,0.00,0.55:0.00,0.00,0.00:60,60,60:9.9,10.0,26.0:0,1,0:0,0,0:35,10,6:116,140,145:11,6,4:-,NM_144698.3(ANKRD35) c.561-156delA:-,NOT_FOUND:-,NOT_FOUND 1 145560260 . G . . NT END=145560888;NT GT ./. 1 145560918 rs41296196 G A 60 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.99,T/0.009984;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+196244G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+195459G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+195459G>A;VC=Intron;Gene=ANKRD35/NM_001280799.1/0;CC=c.505G>A;ProtCh=p.A169T;VC=Missense;Gene=ANKRD35/NM_144698.4/1;CC=c.775G>A;ProtCh=p.A259T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:34:0:0:21,21:622,657:59.60,0.00:36.55,0.00:23.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,0.9:0,0:0,0:70,46:81,100:37,27:NM_144698.3(ANKRD35) c.775G>A (p.Ala259Thr),-:0.02,-:0.029602,- 1 145560927 . G . . NT END=145561095;NT GT ./. 1 145562087 rs41315701 G A 620 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=171;DB;DBA=NA;PAF=T/0.8764,C/0.1236,G/.;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+197413G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+196628G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+196628G>A;VC=Intron;Gene=ANKRD35/NM_001280799.1/0;CC=c.1505G>A;ProtCh=p.R502Q;VC=Missense;Gene=ANKRD35/NM_144698.4/1;CC=c.1775G>A;ProtCh=p.R592Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:171:109:0:0:170,1:5421,35:620.12,0.00:344.65,0.00:275.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,24.0:0,0:0,0:73,145:72,6:36,0:NM_144698.3(ANKRD35) c.1775G>A (p.Arg592Gln),NM_144698.3(ANKRD35) c.1775G>A (p.Arg592Gln):0.14,0.14:0.16841,0.16841 1 145562293 rs11579366 G C 933 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=248;DB;DBA=NA;PAF=G/0.6609,C/0.3391;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+197619G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+196834G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+196834G>C;VC=Intron;Gene=ANKRD35/NM_001280799.1/0;CC=c.1711G>C;ProtCh=p.E571Q;VC=Missense;Gene=ANKRD35/NM_144698.4/1;CC=c.1981G>C;ProtCh=p.E661Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:248:169:0:0:247,1:8181,35:932.69,0.00:504.30,0.00:428.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,25.0:0,0:0,0:71,96:78,55:36,0:NM_144698.3(ANKRD35) c.1981G>C (p.Glu661Gln),NM_144698.3(ANKRD35) c.1981G>C (p.Glu661Gln):0.39,0.39:0.482393,0.482393 1 145563100 . G . . NT END=145566685;NT GT ./. 1 145566776 . G . . NT END=145567029;NT GT ./. 1 145567008 rs45624331 T G 60 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.9888,C/0.01118,G/.,T/.;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+202334T>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+201549T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+201549T>G;VC=Intron;Gene=ANKRD35/NM_001280799.1/0;CC=c.2608-22T>G;VC=Intron;Gene=ANKRD35/NM_144698.4/1;CC=c.2878-22T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:22:0:0:18,13:605,431:59.93,0.00:36.39,0.00:23.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,1.8:0,0:0,0:64,45:79,88:37,33:NM_144698.3(ANKRD35) c.2878-22T>G,-:0.02,-:0.029679,- 1 145567096 . G . . NT END=145567693;NT GT ./. 1 145567757 . G . . NT END=145576078;NT GT ./. 1 145576103 . G . . NT END=145578061;NT GT ./. 1 145578480 . G . . NT END=145578636;NT GT ./. 1 145578722 . G . . NT END=145578949;NT GT ./. 1 145579001 . G . . NT END=145579241;NT GT ./. 1 145579333 . G . . NT END=145580187;NT GT ./. 1 145580323 . G . . NT END=145580504;NT GT ./. 1 145580611 . G . . NT END=145581181;NT GT ./. 1 145581256 . G . . NT END=145581403;NT GT ./. 1 145581565 . G . . NT END=145583914;NT GT ./. 1 145584049 . G . . NT END=145584128;NT GT ./. 1 145584298 . G . . NT END=145584481;NT GT ./. 1 145584616 . G . . NT END=145584798;NT GT ./. 1 145585317 rs4128488 A G 380 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.08007,T/0.9199;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+220643A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+219858A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+219858A>G;VC=Intron;Gene=PIAS3/NM_006099.3/1;CC=c.1621-39A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:111:66:0:0:110,1:3281,13:379.57,0.18:178.69,0.18:200.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,147.0:0,0:0,0:67,127:81,24:44,0:NM_006099.3(PIAS3) c.1621-39A>G,NM_006099.3(PIAS3) c.1621-39A>G:0.94,0.94:0.919576,0.919576 1 145585623 . G . . NT END=145586588;NT GT ./. 1 145586403 rs1050057 G T 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.09085,C/0.9091;PC=0.481;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+221729G>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+220944G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+220944G>T;VC=Intron;Gene=PIAS3/NM_006099.3/1;CC=c.*781G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:265:30.32:30.32:0.00:1.00:1.00:0.00:60:38.5:0:0:52:98:13:NM_006099.3(PIAS3) c.=,NM_006099.3(PIAS3) c.=:0.93,0.93:NOT_FOUND,NOT_FOUND 1 145586692 . C . . NT END=145586803;NT GT ./. 1 145586957 . C . . NT END=145587348;NT GT ./. 1 145587486 . C . . NT END=145587719;NT GT ./. 1 145587819 . C . . NT END=145588377;NT GT ./. 1 145588471 . C . . NT END=145588609;NT GT ./. 1 145588536 rs9286836 C T 242 nt VT=SNV;PN=C;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.3013,G/0.6987;PC=0.014;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+223862C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+223077C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+223077C>T;VC=Intron;Gene=NUDT17/NM_001012758.2/1;CC=c.403-66G>A;VC=Intron;DM=NUDT17/NUDIX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:T:64:33:0:0:64:2111:241.58:105.38:136.20:1.00:1.00:1.00:60:36.7:0:0:88:62:48:NM_001012758.2(NUDT17) c.403-66G>A,NM_001012758.2(NUDT17) c.403-66G>A:0.69,0.69:0.62834,0.62834 1 145588636 . C . . NT END=145588871;NT GT ./. 1 145589056 . C . . NT END=145589235;NT GT ./. 1 145589428 . A . . NT END=145592688;NT GT ./. 1 145589491 rs1887804 A T 235 nt VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.05072,T/0.9493;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+224817A>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+224032A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+224032A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:C,T:67:23:0:0:1,66:9,2045:0.11,235.35:0.00,48.39:0.11,186.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:104.0,37.9:0,0:0,0:78,113:63,33:0,20:NM_001012758.2(NUDT17) c.-8-u56T>A,NM_001012758.2(NUDT17) c.-8-u56T>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 145589666 rs1887802 C A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.05651,G/0.9435;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+224992C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+224207C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+224207C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:168:19.60:0.00:19.60:1.00:0.00:1.00:60:39.7:0:0:121:29:23:NM_001012758.2(NUDT17) c.-8-u231G>T,NM_001012758.2(NUDT17) c.-8-u231G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 145592772 . C . . NT END=145594037;NT GT ./. 1 145594189 . C . . NT END=145594943;NT GT ./. 1 145594799 rs1887806 C T 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2955,G/0.7045;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+230125C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+229340C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+229340C>T;VC=Intron;Gene=POLR3C/NM_001303456.1/1;CC=c.1412+146G>A;VC=Intron;Gene=POLR3C/NM_006468.7/0;CC=c.1373+146G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:424:48.59:48.59:0.00:1.00:1.00:0.00:60:50.0:0:0:44:107:20:NM_006468.6(POLR3C) c.1373+146G>A,NM_006468.6(POLR3C) c.1373+146G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 145594995 . C . . NT END=145595117;NT GT ./. 1 145595221 . C . . NT END=145596902;NT GT ./. 1 145595423 rs913513 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2939,C/0.7061;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+230749G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+229964G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+229964G>A;VC=Intron;Gene=POLR3C/NM_001303456.1/1;CC=c.1261-203C>T;VC=Intron;Gene=POLR3C/NM_006468.7/0;CC=c.1222-203C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:169:19.28:0.00:19.28:1.00:0.00:1.00:60:40.6:0:0:113:38:7:NM_006468.6(POLR3C) c.1222-203C>T,NM_006468.6(POLR3C) c.1222-203C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 145597055 . C . . NT END=145597512;NT GT ./. 1 145597116 rs9728311 C T 115 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.04034,G/0.9597;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+232442C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+231657C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+231657C>T;VC=Intron;Gene=POLR3C/NM_001303456.1/1;CC=c.1110-62G>A;VC=Intron;Gene=POLR3C/NM_006468.7/0;CC=c.1071-62G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:13:0:0:31:1000:114.77:28.83:85.95:1.00:1.00:1.00:60:41.8:0:0:95:51:25:NM_006468.6(POLR3C) c.1071-62G>A,NM_006468.6(POLR3C) c.1071-62G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 145597575 . C . . NT END=145598242;NT GT ./. 1 145598296 . C . . NT END=145598534;NT GT ./. 1 145598459 rs9729715 T C 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.03994,A/0.9601;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+233785T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+233000T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+233000T>C;VC=Intron;Gene=POLR3C/NM_001303456.1/1;CC=c.996+77A>G;VC=Intron;Gene=POLR3C/NM_006468.7/0;CC=c.957+77A>G;VC=Intron;DM=POLR3C/RNA_pol_Rpc82;DM=POLR3C/RNA_pol_Rpc82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:10:0:0:22:708:81.28:29.66:51.62:1.00:1.00:1.00:60:37.3:0:0:78:72:27:NM_006468.6(POLR3C) c.957+77A>G,NM_006468.6(POLR3C) c.957+77A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 145598617 . C . . NT END=145601528;NT GT ./. 1 145601623 . C . . NT END=145601746;NT GT ./. 1 145601853 . C . . NT END=145606273;NT GT ./. 1 145601861 rs9286837 G A 166 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.03115,C/0.9688;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+237187G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+236402G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+236402G>A;VC=Intron;Gene=POLR3C/NM_001303456.1/1;CC=c.718-9C>T;VC=Intron;Gene=POLR3C/NM_006468.7/0;CC=c.679-9C>T;VC=Intron;DM=POLR3C/RNA_pol_Rpc82;DM=POLR3C/RNA_pol_Rpc82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:A:46:22:0:0:46:1440:165.80:51.00:114.79:1.00:1.00:1.00:60:35.3:0:0:108:35:27:NM_006468.6(POLR3C) c.679-9C>T,NM_006468.6(POLR3C) c.679-9C>T:0.98,0.98:0.970475,0.970475 1 145606364 . C . . NT END=145608106;NT GT ./. 1 145608294 . C . . NT END=145608402;NT GT ./. 1 145608660 . C . . NT END=145609188;NT GT ./. 1 145609357 . C . . NT END=145610565;NT GT ./. 1 145610585 . A . . NT END=145611239;NT GT ./. 1 145611342 . G . . NT END=145646114;NT GT ./. 1 145630545 rs12123374 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8578,G/0.1422;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+265871C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+265086C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+265086C>T;VC=Intron;Gene=RNF115/NM_014455.3/1;CC=c.103-15570C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:167:19.08:13.17:5.92:1.00:1.00:1.00:70:54.4:3:0:85:43:23:NM_014455.2(RNF115) c.103-15570C>T,NM_014455.2(RNF115) c.103-15570C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 145630548 . T TTGTG 10 rn VT=INS;SST=Single;DP=5;NP=13;NP=9;PC=0.133;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+265904_10988+265905insTGTG;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+265119_8614+265120insTGTG;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+265119_8614+265120insTGTG;VC=Intron;Gene=RNF115/NM_014455.3/1;CC=c.103-15537_103-15536insTGTG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TTGTG:5:5:3:0:2,3:67,96:0.00,9.57:0.00,6.21:0.00,3.36:0.00,0.78:0.00,0.78:0.00,0.94:60,70:43.5,48.0:0,0:0,0:103,65:30,85:15,46:-,NM_014455.2(RNF115) c.103-15567_103-15566insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 145646174 . G . . NT END=145648015;NT GT ./. 1 145648068 . G . . NT END=145650482;NT GT ./. 1 145650541 . G . . NT END=145663158;NT GT ./. 1 145663368 . G . . NT END=145682022;NT GT ./. 1 145682095 . G . . NT END=145683574;NT GT ./. 1 145683648 . G . . NT END=145684584;NT GT ./. 1 145684679 . G . . NT END=145686975;NT GT ./. 1 145687092 . G . . NT END=145688088;NT GT ./. 1 145687100 rs80314439 A G 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+322426A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+321641A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+321641A>G;VC=Intron;Gene=RNF115/NM_014455.3/1;CC=c.783+9A>G;VC=Intron;DM=RNF115/zf-RING_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:16:0:0:10,24:348,715:0.00,73.95:0.00,21.88:0.00,52.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,39.9:0,0:0,0:106,89:38,54:35,23:-,NM_014455.2(RNF115) c.783+9A>G:-,0.02:-,0.030371 1 145688221 . A . . NT END=145696592;NT GT ./. 1 145696601 . C . . NT END=145698785;NT GT ./. 1 145699091 . C . . NT END=145704016;NT GT ./. 1 145704344 . C . . NT END=145706685;NT GT ./. 1 145706564 rs372969949 C CAA 9 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.021;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+341910_10988+341911insAA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+341125_8614+341126insAA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+341125_8614+341126insAA;VC=Intron;Gene=CD160/NM_007053.3/1;CC=c.73+121_73+122insTT;VC=Intron;Gene=CD160/NR_103845.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,CAA,D:7:12:8:1:3,3,1:99,252,21:0.00,8.95,1.39:0.00,8.95,1.39:0.00,0.00,0.00:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.00,0.00:60,60,55:56.0,138.7,156.0:0,5,0:0,0,0:74,45,36:77,103,115:60,35,0:-,NM_007053.2(CD160) c.73+121_73+122insTT:-,NOT_FOUND:-,NOT_FOUND 1 145706759 . C . . NT END=145747043;NT GT ./. 1 145747254 . G . . NT END=145748337;NT GT ./. 1 145748588 . G . . NT END=145752427;NT GT ./. 1 145752565 . G . . NT END=145753954;NT GT ./. 1 145754151 . G . . NT END=145756416;NT GT ./. 1 145756614 . G . . NT END=145758845;NT GT ./. 1 145758902 . G . . NT END=145760732;NT GT ./. 1 145761172 . C . . NT END=145761177;NT GT ./. 1 145761403 . G . . NT END=145762038;NT GT ./. 1 145762330 . G . . NT END=145763569;NT GT ./. 1 145763816 . T . . NT END=145765018;NT GT ./. 1 145765226 . C . . NT END=145765368;NT GT ./. 1 145765435 . C . . NT END=145769407;NT GT ./. 1 145769498 . C . . NT END=145771634;NT GT ./. 1 145771731 . C . . NT END=145787771;NT GT ./. 1 145787865 . C . . NT END=145788766;NT GT ./. 1 145788856 . C . . NT END=145791060;NT GT ./. 1 145791171 . C . . NT END=145803307;NT GT ./. 1 145803389 . C . . NT END=145804244;NT GT ./. 1 145804366 . C . . NT END=145811341;NT GT ./. 1 145811464 . C . . NT END=145811895;NT GT ./. 1 145812003 . C . . NT END=145816636;NT GT ./. 1 145816741 . C . . NT END=145818766;NT GT ./. 1 145818827 . C . . NT END=145826887;NT GT ./. 1 145826770 rs34955113 G A 160 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.5952,C/0.4048;PC=0.066;Gene=NBPF20/NM_001278267.1/1;CC=c.10988+462096G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8614+461311G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8614+461311G>A;VC=Intron;Gene=GPR89A/NM_001097612.1/0;CC=c.42+118C>T;VC=Intron;Gene=GPR89A/NM_001097613.2/1;CC=c.-80+118C>T;VC=Intron;Gene=GPR89A/NR_036541.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A:44:36:0:0:44:1395:160.40:123.27:37.13:1.00:1.00:1.00:60:40.4:0:0:62:89:34:NM_001097612.1(GPR89A) c.42+118C>T,NM_001097612.1(GPR89A) c.42+118C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 145826930 . G . . NT END=145883867;NT GT ./. 1 145883999 . G . . NT END=145884854;NT GT ./. 1 145884936 . G . . NT END=145897084;NT GT ./. 1 145897195 . G . . NT END=145899405;NT GT ./. 1 145899495 . G . . NT END=145900397;NT GT ./. 1 145900491 . G . . NT END=145916724;NT GT ./. 1 145916821 . G . . NT END=145918957;NT GT ./. 1 145919048 . G . . NT END=145923027;NT GT ./. 1 145923094 . G . . NT END=145923236;NT GT ./. 1 145923607 . C . . NT END=146631143;NT GT ./. 1 146013577 rs145151412 A C 149 nt VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.999;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-406442A>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-407334A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-407334A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:76:47:0:0:32,44:1018,1500:0.00,148.51:0.00,59.66:0.00,88.86:0.00,1.00:0.00,1.00:0.00,1.00:57,54:4.4,36.7:0,0:0,0:94,100:47,46:22,19:-,chr1 g.146013576A>C (intergenic):-,0.64:-,NOT_FOUND 1 146016890 rs199499386 T C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=377;PC=0.186;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-403129T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-404021T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-404021T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,T:13:13:0:0:6,7:166,228:15.54,0.00:15.54,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:27,27:63.3,1.6:0,0:0,0:42,85:108,65:30,15:chr1 g.146016889T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146016916 rs201889570 G C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=623;PC=0.453;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-403103G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-403995G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-403995G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:19:0:0:8,11:263,383:24.50,0.00:24.50,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:27,27:57.1,1.0:0,0:0,0:37,33:112,118:20,27:chr1 g.146016915G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146017295 rs199958173 T C 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=32;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-402724T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-403616T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-403616T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:5:0:0:0:2,3:72,99:6.69,0.00:0.00,0.00:6.69,0.00:0.46,0.00:0.00,0.00:0.46,0.00:27,27:76.0,10.3:0,0:0,0:67,97:82,54:6,32:chr1 g.146017294T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146019571 rs374829055 A C 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=104;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-400448A>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-401340A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-401340A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,C:7:7:0:0:4,3:134,94:0.00,8.75:0.00,8.75:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:40,27:3.0,114.3:0,0:0,0:32,34:119,117:11,18:-,chr1 g.146019570A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146019650 . A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;NP=353;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-400369A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-401261A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-401261A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:20:20:0:0:10,1,9:341,11,270:0.00,0.21,25.57:0.00,0.23,25.83:0.00,-0.02,-0.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.75:42,27,27:1.2,143.0,61.0:0,0,0:0,0,0:52,70,10:99,40,140:41,0,9:-,chr1 g.146019649A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146019838 rs201518173 T C 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.130;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-400181T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-401073T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-401073T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:34:0:0:10,44:316,1447:25.14,0.00:4.48,0.00:20.66,0.00:0.99,0.00:0.99,0.00:1.00,0.00:40,56:32.4,3.8:0,0:0,0:82,82:68,68:21,38:chr1 g.146019837T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146019957 rs147085596 T C 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=461;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-400062T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-400954T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-400954T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:4:0:0:7,16:234,528:20.60,0.00:3.22,0.00:17.38,0.00:0.97,0.00:0.77,0.00:1.00,0.00:27,42:33.4,1.2:0,0:0,0:98,108:53,42:13,25:chr1 g.146019956T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146020006 rs200840204 G GT 7 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.100;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-400007dupT;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-400899dupT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-400899dupT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:G,GT:14:1:4:0:10,4:288,90:0.00,7.28:0.00,1.22:0.00,6.06:0.00,0.77:0.00,0.52:0.00,0.77:40,27:5.0,33.5:0,0:0,0:97,69:53,81:25,6:-,chr1 g.146020006_146020007insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146020773 rs200379303 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=9;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-399246A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-400138A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-400138A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:5:0:0:1,4:33,118:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:3,27:0.0,90.2:0,0:0,0:5,19:143,132:0,4:-,chr1 g.146020772A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146020813 rs201306418 A G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=20;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-399206A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-400098A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-400098A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G:6:6:0:0:1,5:33,166:0.00,17.81:0.00,17.81:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:3,27:0.0,86.2:0,0:0,0:45,58:103,93:0,7:-,chr1 g.146020812A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146020884 rs200892934 T C 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=84;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-399135T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-400027T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-400027T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,T:15:15:0:0:9,6:301,187:30.01,0.00:30.01,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:27,27:71.7,7.2:0,0:0,0:60,63:90,88:44,12:chr1 g.146020883T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146021004 rs202169258 C T 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=421;PC=0.018;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-399015C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-399907C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-399907C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:17:0:0:11,12:367,372:0.00,35.99:0.00,21.22:0.00,14.77:0.00,1.00:0.00,1.00:0.00,1.00:27,27:0.0,69.5:0,0:0,0:95,69:56,82:16,50:-,chr1 g.146021003C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146021102 rs55712445 C T 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=886;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-398917C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-399809C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-399809C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:1:0:0:10,14:358,439:0.00,43.49:0.00,1.77:0.00,41.72:0.00,1.00:0.00,0.72:0.00,1.00:27,27:0.0,58.8:0,0:0,0:99,97:51,54:15,16:-,chr1 g.146021101C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146039231 . T A 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380788T>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381680T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381680T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-69A>T;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-69A>T;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,T:11:11:0:0:5,6:167,163:15.80,0.00:15.80,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:21,21:58.2,18.8:0,0:0,0:131,125:18,25:12,23:NM_183372.4(NBPF11) c.2016-69A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 146039244 rs146316741 G A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=12;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380775G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381667G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381667G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-82C>T;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-82C>T;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:9:9:0:0:5,4:149,130:14.60,0.00:14.60,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:21,21:58.0,0.0:0,0:0,0:118,125:33,25:29,13:NM_183372.4(NBPF11) c.2016-82C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 146039364 . C T 15 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380655C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381547C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381547C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-202G>A;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-202G>A;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,T:19:6:0:0:13,6:405,169:0.00,14.62:0.00,6.32:0.00,8.30:0.00,0.94:0.00,0.88:0.00,0.99:21,19:74.2,156.8:1,0:0,0:69,67:66,82:21,12:-,NM_183372.4(NBPF11) c.2016-202G>A:-,NOT_FOUND:-,NOT_FOUND 1 146039405 rs200241398 T A 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=32;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380614T>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381506T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381506T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-243A>T;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-243A>T;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:18:4:0:0:9,9:291,300:27.96,0.00:4.83,0.00:23.12,0.00:1.00,0.00:0.51,0.00:1.00,0.00:21,21:168.3,57.3:0,0:0,0:113,105:38,41:13,24:NM_183372.4(NBPF11) c.2016-243A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 146039409 . A G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380610A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381502A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381502A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-247T>C;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-247T>C;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:4:0:0:9,9:292,262:0.00,25.04:0.00,4.26:0.00,20.77:0.00,1.00:0.00,0.51:0.00,1.00:21,21:57.3,168.3:0,0:0,0:109,117:37,34:24,13:-,NM_183372.4(NBPF11) c.2016-247T>C:-,NOT_FOUND:-,NOT_FOUND 1 146039417 rs61807323 C G 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=8;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380602C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381494C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381494C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-255G>C;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-255G>C;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:4:0:0:9,9:278,295:0.00,28.38:0.00,3.23:0.00,25.15:0.00,1.00:0.00,0.51:0.00,1.00:21,21:47.4,172.2:0,0:0,0:121,97:9,54:22,28:-,NM_183372.4(NBPF11) c.2016-255G>C:-,NOT_FOUND:-,NOT_FOUND 1 146039441 . G C 17 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;PC=0.013;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380578G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381470G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381470G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-279C>G;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-279C>G;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:C,G:12:2:0:0:6,6:175,203:16.73,0.00:3.73,0.00:13.01,0.00:0.98,0.00:0.79,0.00:0.98,0.00:19,21:186.3,50.8:0,0:0,0:130,129:20,20:19,16:NM_183372.4(NBPF11) c.2016-279C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146039447 . G T 13 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-380572G>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-381464G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-381464G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.1854-285C>A;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.2016-285C>A;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:G,T:8:2:0:0:4,4:132,132:0.00,12.70:0.00,3.48:0.00,9.22:0.00,0.87:0.00,0.79:0.00,0.87:19,19:43.2,179.0:0,0:0,0:116,92:28,57:12,21:-,NM_183372.4(NBPF11) c.2016-285C>A:-,NOT_FOUND:-,NOT_FOUND 1 146055329 rs3871929 T C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-364690T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-365582T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-365582T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF11/NM_001101663.4/0;CC=c.278+16A>G;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.440+16A>G;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:C,T:8:7:0:0:4,4:136,126:13.10,0.00:6.25,0.00:6.85,0.00:0.87,0.00:0.99,0.00:0.96,0.00:31,42:67.5,0.0:0,0:0,0:25,3:109,146:20,0:NM_183372.4(NBPF11) c.440+16A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146215022 . T C 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;NP=2255;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204997T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205889T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205889T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:21:0:0:8,16:263,523:23.48,0.00:20.65,0.00:2.83,0.00:0.99,0.00:0.97,0.00:0.89,0.00:41,48:104.6,17.5:0,0:0,0:31,43:118,107:26,22:chr1 g.146215021T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146215111 rs373124782 G A 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=3186;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204908G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205800G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205800G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:46:0:0:24,28:778,874:73.70,0.00:58.61,0.00:15.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,50:125.2,24.0:0,0:0,0:63,71:87,78:25,32:chr1 g.146215110G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146215113 rs377681920 G A 75 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=3;NP=3234;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204906G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205798G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205798G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:46:0:0:24,28:789,880:74.79,0.00:59.37,0.00:15.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,50:127.9,23.6:0,0:0,0:65,72:85,77:26,35:chr1 g.146215112G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146215138 rs370516541 A G 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=3401;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204881A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205773A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205773A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:50:0:0:30,28:988,963:0.00,92.21:0.00,73.14:0.00,19.08:0.00,1.00:0.00,1.00:0.00,1.00:50,51:17.5,128.9:0,0:0,0:70,69:79,81:34,37:-,chr1 g.146215137A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146215189 rs371388492 G C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=1884;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204830G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205722G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205722G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:71:61:0:0:13,58:404,1889:31.95,0.00:28.15,0.00:3.81,0.00:1.00,0.00:1.00,0.00:0.92,0.00:48,51:142.3,43.3:0,0:0,0:63,73:88,77:24,40:chr1 g.146215188G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146215223 rs72475588 G C 141 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=3167;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204796G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205688G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205688G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:84:73:0:0:45,39:1451,1297:141.37,0.00:126.00,0.00:15.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,50:116.2,10.6:0,0:0,0:52,65:99,81:34,34:chr1 g.146215222G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146215232 . A C 168 nt VT=SNV;PN=A;NN=A;SST=Single;DP=89;NP=3174;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204787A>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205679A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205679A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:89:79:0:0:37,52:1198,1698:0.00,168.34:0.00,144.86:0.00,23.48:0.00,1.00:0.00,1.00:0.00,1.00:50,51:8.9,109.5:0,0:0,0:71,38:79,110:34,30:-,chr1 g.146215231A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146215276 rs368113016 C T 184 nt VT=SNV;PN=G;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=2847;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204743C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205635C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205635C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:109:88:0:0:48,61:1649,1872:0.00,183.73:0.00,120.31:0.00,63.42:0.00,1.00:0.00,1.00:0.00,1.00:50,43:7.4,89.9:0,0:0,0:63,52:85,96:42,29:-,chr1 g.146215275C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146215376 rs375288114 T C 220 nt VT=SNV;PN=C;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;NP=2255;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204643T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205535T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205535T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:123:44:0:0:73,50:2210,1536:219.66,0.00:50.78,0.00:168.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,44:57.7,11.0:0,0:0,0:99,103:50,44:22,27:chr1 g.146215375T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146215604 . C A 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;NP=64;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-204415C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-205307C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-205307C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,C:13:3:0:0:4,9:135,298:11.92,0.00:-0.40,0.00:12.32,0.00:0.79,0.00:0.69,0.00:0.96,0.00:27,57:57.8,21.6:0,0:0,0:32,135:118,16:4,6:chr1 g.146215603C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146216713 rs367616822 T C 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=174;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-203306T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-204198T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-204198T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:45:0:0:12,37:389,1106:32.80,0.00:33.53,0.00:-0.73,0.00:1.00,0.00:1.00,0.00:0.86,0.00:31,40:42.4,11.6:0,0:0,0:59,49:91,101:32,41:chr1 g.146216712T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146218842 rs373467423 T A 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=57;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-201177T>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-202069T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-202069T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:3:0:0:7:210:24.29:9.59:14.70:1.00:1.00:1.00:50:37.7:0:0:75:76:9:chr1 g.146218841T>A (intergenic),chr1 g.146218841T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146228054 . C T 27 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=87;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191965C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192857C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192857C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C,T:87:12:0:0:1,74,12:19,2157,364:0.20,0.00,27.08:-0.01,0.00,25.71:0.21,0.00,1.37:0.00,0.00,1.00:0.00,0.00,0.76:0.00,0.00,1.00:40,42,43:244.0,12.0,58.2:0,0,0:0,0,0:27,115,40:124,35,110:0,27,7:-,chr1 g.146228053C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146228106 . CAGAGAG C 11 sb,nt VT=DEL;SST=Single;DP=46;PC=0.204;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191905_10989-191900delGAGAGA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192797_8615-192792delGAGAGA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192797_8615-192792delGAGAGA;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CAGAGAG,C:46:10:0:6:40,6:1189,156:0.00,10.78:0.00,10.09:0.00,0.69:0.00,0.86:0.00,0.69:0.00,0.98:53,43:31.9,42.5:6,0:0,0:90,92:60,58:22,2:-,chr1 g.146228107_146228112delAGAGAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146228108 . GAGAGAGAGAGAC G 12 sb;idl,nt VT=DEL;SST=Single;DP=39;PC=0.092;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191905_10989-191894delGAGAGACAGAGA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192797_8615-192786delGAGAGACAGAGA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192797_8615-192786delGAGAGACAGAGA;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,GAGAGAGAGAGAC,T,G:39:4:0:12:1,31,1,6:20,952,7,162:0.59,0.00,-0.24,12.07:0.00,0.00,0.00,10.96:0.59,0.00,-0.24,1.11:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.50:0.00,0.00,0.00,0.99:53,52,42,40:63.0,24.8,157.0,47.7:0,0,0,0:0,0,0,0:32,94,87,87:119,57,64,63:0,24,0,10:-,chr1 g.146228109_146228120delAGAGAGAGAGAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146228190 . C A 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;NP=4;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191829C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192721C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192721C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:20:1:0:0:10,10:294,342:28.13,0.00:2.27,0.00:25.86,0.00:1.00,0.00:0.67,0.00:1.00,0.00:40,53:64.0,11.6:0,0:0,0:86,102:64,48:36,28:chr1 g.146228189C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146228235 . T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;NP=1;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191784T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192676T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192676T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,T:13:0:0:0:6,7:175,199:16.47,0.00:0.00,0.00:16.47,0.00:0.97,0.00:0.00,0.00:0.97,0.00:32,52:80.0,7.7:0,0:0,0:89,100:59,51:14,45:chr1 g.146228234T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146228301 . T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191718T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192610T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192610T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:7:0:0:0:3,4:94,136:8.75,0.00:0.00,0.00:8.75,0.00:0.69,0.00:0.00,0.00:0.69,0.00:39,20:86.3,18.5:0,0:0,0:97,97:54,53:25,27:chr1 g.146228300T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146228329 . A T 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;NP=2;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191690A>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192582A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192582A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,T:5:0:0:0:3,2:93,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:20,39:22.0,85.0:0,0:0,0:103,79:48,71:19,46:-,chr1 g.146228328A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146228345 . T G 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;NP=4;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-191674T>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-192566T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-192566T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:4:0:0:0:2,2:66,66:6.35,0.00:0.00,0.00:6.35,0.00:0.51,0.00:0.00,0.00:0.51,0.00:20,39:33.0,85.0:0,0:0,0:109,95:41,55:9,46:chr1 g.146228344T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146231603 . G T 11 end;mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;PC=0.005;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-188416G>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-189308G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-189308G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:G,T:27:26:0:0:22,5:704,143:0.00,11.07:0.00,11.20:0.00,-0.13:0.00,0.82:0.00,0.98:0.00,0.45:22,13:5.9,30.6:0,0:0,0:30,1:121,150:24,1:-,chr1 g.146231602G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146231857 . G A 157 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=65;PC=0.031;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-188162G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-189054G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-189054G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:0:0:0:46,19:1519,559:156.79,0.00:0.00,0.00:156.79,0.00:1.00,0.00:0.00,0.00:1.00,0.00:19,22:45.9,7.6:0,0:0,0:118,104:31,47:17,21:chr1 g.146231856G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146232733 rs149176428 T C 570 nt VT=SNV;PN=C;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-187286T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-188178T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-188178T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:170:59:0:0:169,1:4924,10:570.22,0.00:149.18,0.00:421.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,43:43.0,133.0:0,0:0,0:106,49:41,63:22,0:chr1 g.146232732T>C (intergenic),chr1 g.146232732T>C (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 1 146244914 . G A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-175105G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-175997G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-175997G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,G:11:0:0:0:4,7:118,216:10.56,0.00:0.00,0.00:10.56,0.00:0.82,0.00:0.00,0.00:0.82,0.00:22,42:50.2,3.7:0,0:0,0:46,62:103,89:13,43:chr1 g.146244913G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146245957 . C T 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;NP=142;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-174062C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-174954C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-174954C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:16:16:0:0:6,10:165,307:0.00,30.93:0.00,30.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:50,24:10.2,37.7:0,0:0,0:101,47:49,102:17,28:-,chr1 g.146245956C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146250779 . G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;NP=1;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-169240G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-170132G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-170132G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,G:29:25:0:0:6,23:182,773:14.64,0.00:15.30,0.00:-0.66,0.00:0.90,0.00:0.99,0.00:0.83,0.00:40,42:142.7,6.1:0,0:0,0:12,46:139,104:1,42:chr1 g.146250778G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146250806 . C G 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;NP=14;PC=0.014;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-169213C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-170105C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-170105C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:53:49:0:0:36,17:1182,547:0.00,48.38:0.00,45.10:0.00,3.28:0.00,1.00:0.00,1.00:0.00,1.00:42,40:9.8,119.5:0,0:0,0:33,20:115,125:16,11:-,chr1 g.146250805C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146250820 . C A 27 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;NP=10;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-169199C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-170091C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-170091C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:68:58:0:0:10,58:341,1768:26.57,0.00:27.86,0.00:-1.28,0.00:0.99,0.00:1.00,0.00:0.96,0.00:40,42:127.8,27.6:0,0:0,0:39,34:112,113:6,22:chr1 g.146250819C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146250855 . C T 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=82;NP=393;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-169164C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-170056C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-170056C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:68:0:0:58,24:1938,773:0.00,67.25:0.00,46.85:0.00,20.40:0.00,1.00:0.00,1.00:0.00,1.00:42,40:10.6,101.0:0,0:0,0:53,51:93,93:24,16:-,chr1 g.146250854C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146250905 rs587717447 G C 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=428;PC=0.079;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-169114G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-170006G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-170006G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:90:73:0:0:14,76:496,2524:39.39,0.00:19.33,0.00:20.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:87.4,19.4:0,0:0,0:98,88:53,63:16,33:chr1 g.146250904G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146250971 . G A 22 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;NP=2;PC=0.028;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-169048G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-169940G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-169940G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,G,T:61:25:0:0:9,51,1:290,1664,12:22.28,0.00,-0.13:0.23,0.00,0.11:22.05,0.00,-0.24:0.98,0.00,0.00:0.95,0.00,0.00:1.00,0.00,0.00:40,40,27:47.3,13.2,204.0:0,0,0:0,0,0:110,92,119:41,59,32:7,22,0:chr1 g.146250970G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146252612 rs200171793 AAC A 73 nt VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=48;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-167403_10989-167402delCA;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-168295_8615-168294delCA;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-168295_8615-168294delCA;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,C,A:66:20:0:33:32,1,33:1030,14,772:0.00,0.11,72.87:0.00,-0.05,12.52:0.00,0.16,60.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,23,40:6.2,43.0,4.4:0,0,0:0,0,0:128,121,101:22,30,50:18,0,27:-,chr1 g.146252613_146252614delAC (intergenic):-,0.01:-,NOT_FOUND 1 146320949 rs587594221 C T 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=100;PC=1.000;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-99070C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-99962C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-99962C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:23:0:0:32:1060:121.22:66.06:55.17:1.00:1.00:1.00:42:45.8:0:0:92:59:24:NR_049745.1(HYDIN2) n.10398C>T,NR_049745.1(HYDIN2) n.10398C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146378984 rs369373044 G C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=23;PC=0.022;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-41035G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-41927G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-41927G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.-478+111G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:C,G:16:4:0:0:4,12:123,406:10.30,0.00:4.79,0.00:5.51,0.00:0.75,0.00:0.69,0.00:0.97,0.00:30,43:30.8,18.0:0,0:0,0:89,71:62,73:8,32:XR_159109.1(LOC100996529) n.899+111G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 146395253 . T G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;PC=0.016;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24766T>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25658T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25658T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.-36+49T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:17:17:0:0:3,14:91,457:7.09,0.00:7.09,0.00:0.00,0.00:0.53,0.00:0.53,0.00:0.00,0.00:23,40:65.3,27.1:0,0:0,0:12,19:139,129:8,12:chr1 g.146395252T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395313 . A G 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24706A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25598A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25598A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.-29A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:53:0:0:35,18:1140,537:0.00,47.53:0.00,47.53:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:25.1,65.9:0,0:0,0:41,40:108,110:26,22:-,chr1 g.146395312A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146395315 . T C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24704T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25596T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25596T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.-27T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:54:0:0:18,36:567,1243:50.35,0.00:50.35,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:65.9,24.4:0,0:0,0:42,42:108,107:22,26:chr1 g.146395314T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395336 . G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;NP=1;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24683G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25575G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25575G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.-6G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:61:0:0:14,47:479,1369:40.33,0.00:40.33,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:73.0,35.6:0,0:0,0:46,61:103,90:27,25:chr1 g.146395335G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395423 rs369976705 T C 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24596T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25488T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25488T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.82T>C;ProtCh=p.L28=;VC=Silent;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:74:68:0:0:10,64:316,1918:23.70,0.00:24.45,0.00:-0.75,0.00:0.99,0.00:1.00,0.00:0.86,0.00:40,53:83.2,36.8:0,0:0,0:122,44:28,106:11,34:chr1 g.146395422T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395447 rs587734201 A G 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24572A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25464A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25464A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.106A>G;ProtCh=p.R36G;VC=Missense;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:81:60:0:0:49,1,31:1616,6,975:0.00,-0.22,89.03:0.00,-0.19,34.05:0.00,-0.02,54.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:54,7,40:20.6,79.0,81.5:0,0,0:0,0,0:40,31,29:111,120,117:24,0,15:-,chr1 g.146395446A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146395463 . G A 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=85;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24556G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25448G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25448G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.122G>A;ProtCh=p.R41K;VC=Missense;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:85:51:0:0:10,75:280,2536:19.52,0.00:7.43,0.00:12.09,0.00:0.98,0.00:0.99,0.00:0.99,0.00:37,52:85.7,37.7:0,0:0,0:37,53:112,98:22,23:chr1 g.146395462G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395465 . T A 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=87;NP=3;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24554T>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25446T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25446T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.124T>A;ProtCh=p.C42S;VC=Missense;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:87:52:0:0:14,73:491,2378:39.12,0.00:9.68,0.00:29.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,54:99.4,31.2:0,0:0,0:46,43:104,107:9,21:chr1 g.146395464T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395471 rs587749188 C G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24548C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25440C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25440C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.130C>G;ProtCh=p.L44V;VC=Missense;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,G,T:92:52:0:0:80,11,1:2746,329,11:0.00,23.62,-0.25:0.00,5.87,-0.05:0.00,17.75,-0.20:0.00,0.99,0.00:0.00,0.99,0.00:0.00,1.00,0.00:54,40,24:38.5,80.3,72.0:0,0,0:0,0,0:52,28,148:98,123,2:19,18,0:-,chr1 g.146395470C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146395537 . A G 94 nt VT=SNV;PN=C;NN=T;SST=Single;DP=101;NP=8;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24482A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25374A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25374A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.175+21A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:101:31:0:0:68,1,32:2264,10,1062:0.00,-0.20,94.24:0.00,-0.07,8.71:0.00,-0.12,85.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:54,15,40:22.1,74.0,75.8:0,0,0:0,0,0:88,115,110:61,34,41:28,0,12:-,chr1 g.146395536A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146395558 rs71271431 G A 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=257;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24461G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25353G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25353G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.175+42G>A;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:100:20:0:0:17,1,82:539,10,2695:42.30,-0.26,0.00:5.27,-0.05,0.00:37.04,-0.21,0.00:1.00,0.00,0.00:0.94,0.00,0.00:1.00,0.00,0.00:40,7,54:33.4,79.0,45.2:0,0,0:0,0,0:90,142,110:60,9,37:26,0,23:chr1 g.146395557G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395603 rs370244944 T G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24416T>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25308T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25308T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.175+87T>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G,T:56:2:0:0:1,10,45:8,285,1404:-0.25,21.98,0.00:-0.01,-0.09,0.00:-0.24,22.06,0.00:0.00,0.99,0.00:0.00,0.44,0.00:0.00,0.99,0.00:40,40,50:131.0,47.3,27.9:0,0,0:0,0,0:103,111,109:48,39,42:0,16,31:chr1 g.146395602T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395657 . T G 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24362T>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25254T>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25254T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.175+141T>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:G,T:23:0:0:0:4,19:132,567:10.50,0.00:0.00,0.00:10.50,0.00:0.69,0.00:0.00,0.00:0.69,0.00:40,56:41.8,32.7:0,0:0,0:111,121:39,30:8,19:chr1 g.146395656T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146395722 rs142655742 A G 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1785,A/0.8215;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24297A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25189A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25189A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.175+206A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:241:27.91:0.00:27.91:1.00:0.00:1.00:60:46.4:0:0:59:92:24:chr1 g.146395721A>G (intergenic),chr1 g.146395721A>G (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 146395784 rs71271430 T C 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8365,C/0.1635;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-24235T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-25127T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-25127T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.175+268T>C;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:8:0:0:0:4,4:130,131:12.50,0.00:0.00,0.00:12.50,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:61.2,59.2:0,0:0,0:121,61:30,89:6,35:chr1 g.146395783T>C (intergenic),-:0.17,-:NOT_FOUND,- 1 146397300 rs370305527 G A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8359,A/0.1641;NP=960;PC=0.770;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-22719G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-23611G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-23611G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.176-59G>A;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:9:8:0:0:5,4:163,129:16.00,0.00:16.35,0.00:-0.35,0.00:0.96,0.00:1.00,0.00:0.70,0.00:48,50:35.4,13.0:0,0:0,0:52,57:97,92:23,45:chr1 g.146397299G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146397489 rs71271428 G T 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.8371,A/.,T/0.1629;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-22530G>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-23422G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-23422G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.278+28G>T;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:G,T:14:7:0:0:9,5:273,145:0.00,12.91:0.00,2.80:0.00,10.11:0.00,0.90:0.00,0.94:0.00,0.99:60,56:18.1,32.4:0,0:0,0:91,100:55,34:14,16:-,chr1 g.146397488G>T (intergenic):-,0.16:-,NOT_FOUND 1 146398111 rs587655914 G C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=641;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-21908G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-22800G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-22800G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.279-182G>C;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,G:16:16:0:0:4,12:121,413:10.10,0.00:10.10,0.00:0.00,0.00:0.75,0.00:0.75,0.00:0.00,0.00:25,55:105.5,18.5:0,0:0,0:33,79:118,72:5,25:chr1 g.146398110G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146398203 rs376385375 A G 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=3297;NP=4;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-21816A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-22708A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-22708A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.279-90A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:37:0:0:22,15:654,412:0.00,37.44:0.00,35.86:0.00,1.58:0.00,1.00:0.00,1.00:0.00,0.71:42,40:13.9,82.7:0,0:0,0:26,40:121,110:19,35:-,chr1 g.146398202A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146398208 rs371150699 A G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=3398;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-21811A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-22703A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-22703A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.279-85A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:37:0:0:23,15:702,432:0.00,39.29:0.00,37.83:0.00,1.47:0.00,1.00:0.00,1.00:0.00,0.80:42,40:20.0,82.7:0,0:0,0:31,43:118,108:21,33:-,chr1 g.146398207A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146398387 . G C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=95;NP=9;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-21632G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-22524G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-22524G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.373G>C;ProtCh=p.E125Q;VC=Missense;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:95:55:0:0:15,80:479,2651:37.10,0.00:4.23,0.00:32.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,40:59.0,4.7:0,0:0,0:115,75:35,75:20,41:chr1 g.146398386G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146398422 rs371127857 G A 21 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.9962,A/0.003794;NP=12;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-21597G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-22489G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-22489G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.408G>A;ProtCh=p.P136=;VC=Silent;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:88:49:0:0:9,79:288,2485:20.55,0.00:-1.06,0.00:21.61,0.00:0.96,0.00:0.97,0.00:0.99,0.00:40,41:111.6,5.9:0,0:0,0:114,56:35,93:21,28:chr1 g.146398421G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146398579 rs71281049 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.8996,T/0.1004;NP=298;PC=0.009;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-21440T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-22332T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-22332T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.493+72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:5:0:0:18,17:548,540:52.87,0.00:7.55,0.00:45.32,0.00:1.00,0.00:0.97,0.00:1.00,0.00:52,60:48.1,11.1:0,0:0,0:119,121:31,28:26,13:chr1 g.146398578T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146398651 rs71281048 G A 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8367,A/0.1633;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-21368G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-22260G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-22260G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.493+144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G:11:0:0:0:8,3:263,100:27.32,0.00:0.00,0.00:27.32,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.6,13.7:0,0:0,0:85,128:66,23:39,19:chr1 g.146398650G>A (intergenic),-:0.16,-:NOT_FOUND,- 1 146399273 rs150405982 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8303,T/0.1697;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20746C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21638C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21638C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.494-282C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,T:13:13:0:0:6,7:169,217:0.00,21.16:0.00,21.16:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:40,40:71.0,57.6:0,0:0,0:27,46:123,104:9,42:-,chr1 g.146399272C>T (intergenic):-,0.17:-,NOT_FOUND 1 146399274 rs192570214 G T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7474,G/0.2526;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20745G>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21637G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21637G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.494-281G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:13:13:0:0:7,6:233,196:0.00,18.57:0.00,18.57:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:40,40:57.6,71.0:0,0:0,0:47,28:103,122:42,9:-,chr1 g.146399273G>T (intergenic):-,0.19:-,NOT_FOUND 1 146399306 rs184947024 C T 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8205,T/0.1795;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20713C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21605C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21605C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.494-249C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:7,9:216,264:0.00,25.95:0.00,25.95:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:57.6,88.8:0,0:0,0:79,57:71,93:42,25:-,chr1 g.146399305C>T (intergenic):-,0.14:-,NOT_FOUND 1 146399411 rs374251876 G A 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.394,A/0.606;NP=836;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20608G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21500G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21500G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.494-144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:27:24:0:0:24,3:798,85:87.17,0.00:68.84,0.00:18.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,25:50.7,84.0:0,0:0,0:73,10:77,140:43,5:chr1 g.146399410G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146399424 rs370364053 G A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=66;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20595G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21487G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21487G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.494-131G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,G:25:22:0:0:3,22:99,727:7.35,0.00:7.65,0.00:-0.30,0.00:0.46,0.00:0.87,0.00:0.59,0.00:25,60:84.0,45.2:0,0:0,0:23,86:127,64:5,23:chr1 g.146399423G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146399525 . C A 33 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;NP=290;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20494C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21386C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21386C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.494-30C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:49:33:0:0:13,35,1:385,1179,12:32.52,0.00,-0.04:35.06,0.00,-0.14:-2.54,0.00,0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,42,43:68.9,16.7,115.0:0,0,0:0,0,0:42,63,11:108,87,139:28,30,0:chr1 g.146399524C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146399562 . T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;NP=380;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20457T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21349T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21349T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.501T>C;ProtCh=p.D167=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:44:0:0:19,42:608,1317:53.44,0.00:46.91,0.00:6.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,55:68.6,24.0:0,0:0,0:51,46:100,104:22,35:chr1 g.146399561T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146399674 . A G 73 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;NP=185;PC=0.075;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20345A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21237A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21237A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.566+47A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:65:29:0:0:40,24,1:1256,796,9:0.00,72.66,-0.15:0.00,24.05,0.01:0.00,48.61,-0.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,51,37:25.2,90.0,200.0:0,0,0:0,0,0:111,95,112:40,53,39:20,23,0:-,chr1 g.146399673A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146399683 rs372007274 A G 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.7157,A/0.2843;NP=255;PC=0.002;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20336A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21228A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21228A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.566+56A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:57:21:0:0:32,1,24:1010,12,715:0.00,-0.00,66.31:0.00,0.16,16.98:0.00,-0.16,49.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,51:18.3,12.0,94.8:0,0,0:0,0,0:119,143,98:31,7,49:18,0,21:-,chr1 g.146399682A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146399728 rs587771221 T C 49 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=77;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20291T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21183T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21183T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.566+101T>C;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:6:0:0:16,20:522,637:49.10,0.00:1.10,0.00:48.01,0.00:1.00,0.00:0.96,0.00:1.00,0.00:51,60:121.6,22.4:0,0:0,0:108,106:38,44:33,23:chr1 g.146399727T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146399753 . C G 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;NP=32;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20266C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21158C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21158C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.566+126C>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:28:4:0:0:19,9:597,283:0.00,24.97:0.00,-0.50:0.00,25.47:0.00,0.99:0.00,0.79:0.00,1.00:51,40:31.1,141.0:0,0:0,0:78,125:73,26:48,21:-,chr1 g.146399752C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146399778 . A G 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20241A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21133A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21133A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.566+151A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:23:4:0:0:15,1,7:462,9,223:0.00,-0.02,19.66:0.00,-0.07,-0.55:0.00,0.05,20.21:0.00,0.00,0.97:0.00,0.00,0.77:0.00,0.00,1.00:51,24,37:24.1,112.0,135.7:0,0,0:0,0,0:67,55,96:84,96,53:39,0,24:-,chr1 g.146399777A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146399787 . A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20232A>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-21124A>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-21124A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.566+160A>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:3:0:0:15,7:445,238:0.00,21.17:0.00,-0.50:0.00,21.67:0.00,0.97:0.00,0.71:0.00,1.00:50,37:23.4,127.9:0,0:0,0:73,101:78,50:36,20:-,chr1 g.146399786A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146399923 . C G 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;NP=3;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-20096C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-20988C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-20988C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.567-168C>G;VC=Intron;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G:7:4:0:0:4,3:111,94:0.00,8.76:0.00,9.48:0.00,-0.72:0.00,0.69:0.00,0.89:0.00,0.83:40,22:19.2,33.0:0,0:0,0:119,125:31,26:18,2:-,chr1 g.146399922C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146400122 . C G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-19897C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-20789C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-20789C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.598C>G;ProtCh=p.P200A;VC=Missense;DM=NBPF12/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,G:8:2:0:0:4,4:118,118:0.00,11.27:0.00,-0.60:0.00,11.87:0.00,0.87:0.00,0.79:0.00,0.73:27,22:14.8,31.8:0,0:0,0:107,68:44,81:20,12:-,chr1 g.146400121C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146406716 rs371573329 G A 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.889,A/0.111;NP=70;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-13303G>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-14195G>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-14195G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.1591+115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:5:0:0:0:4,1:121,35:12.92,0.00:0.00,0.00:12.92,0.00:0.96,0.00:0.00,0.00:0.96,0.00:40,27:42.0,0.0:0,0:0,0:33,105:117,43:12,0:chr1 g.146406715G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146409969 rs587721117 A C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=328;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-10050A>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-10942A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-10942A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.1825A>C;ProtCh=p.I609L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:193:22.16:16.19:5.97:1.00:1.00:1.00:27:35.2:0:0:26:124:18:chr1 g.146409968A>C (intergenic),chr1 g.146409968A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146418342 . G T 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;NP=43;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-1677G>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-2569G>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-2569G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.2614+41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:3:0:0:6:178:20.62:5.36:15.26:1.00:1.00:1.00:24:67.3:0:0:50:100:38:chr1 g.146418341G>T (intergenic),chr1 g.146418341G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146419787 . C CTG 44 idl,rn VT=INS;SST=Single;DP=28;NP=9;Gene=NBPF20/NM_001278267.1/1;CC=c.10989-189_10989-188insGT;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-1081_8615-1080insGT;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-1081_8615-1080insGT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.2667-189_2667-188insGT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTG:24:27:18:0:10,14:335,558:0.00,44.15:0.00,42.42:0.00,1.74:0.00,1.00:0.00,1.00:0.00,0.79:60,55:51.7,38.6:0,4:0,0:56,38:77,112:41,9:-,chr1 g.146419787_146419788insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146420293 . C T 15 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.11161+102C>T;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.8615-618C>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.8615-618C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.2839+102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,C,T:29:0:0:0:1,22,6:9,688,184:-0.11,0.00,14.94:0.00,0.00,0.00:-0.11,0.00,14.94:0.00,0.00,0.90:0.00,0.00,0.00:0.00,0.00,0.90:40,40,15:9.0,9.7,34.2:0,0,0:0,0,0:102,73,143:48,75,6:0,38,5:-,chr1 g.146420292C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146454489 . C G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;NP=18;PC=0.004;Gene=NBPF20/NM_001278267.1/1;CC=c.13635-249C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1870C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9624-249C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3117-249C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:7:6:0:1:5,2:175,72:0.00,6.34:0.00,6.48:0.00,-0.15:0.00,0.39:0.00,0.85:0.00,0.52:52,57:60.8,74.0:0,0:0,0:29,71:122,68:19,2:-,chr1 g.146454488C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146454523 . G C 8 end;mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;NP=1;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.13635-215G>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1836G>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9624-215G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3117-215G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:C,G:29:28:0:0:3,26:104,870:7.64,0.00:7.69,0.00:-0.05,0.00:0.43,0.00:0.88,0.00:0.40,0.00:13,57:62.7,69.3:0,0:0,0:6,16:145,134:2,7:chr1 g.146454522G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146454592 . C A 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;PC=0.001;Gene=NBPF20/NM_001278267.1/1;CC=c.13635-146C>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1767C>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9624-146C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3117-146C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:70:68:0:0:17,53:557,1702:46.97,0.00:47.22,0.00:-0.24,0.00:1.00,0.00:1.00,0.00:0.52,0.00:25,25:107.3,57.1:0,0:0,0:60,60:91,91:9,8:chr1 g.146454591C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146454629 . A C 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;PC=0.008;Gene=NBPF20/NM_001278267.1/1;CC=c.13635-109A>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1730A>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9624-109A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3117-109A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:69:66:0:0:38,31:1052,905:0.00,84.69:0.00,85.47:0.00,-0.78:0.00,1.00:0.00,1.00:0.00,0.85:25,25:46.6,94.8:0,0:0,0:100,95:51,56:10,7:-,chr1 g.146454628A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146454642 . T C 30 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;PC=0.003;Gene=NBPF20/NM_001278267.1/1;CC=c.13635-96T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1717T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9624-96T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3117-96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:66:0:0:12,57:379,1830:29.81,0.00:23.36,0.00:6.45,0.00:1.00,0.00:1.00,0.00:0.48,0.00:19,25:63.3,68.7:0,0:0,0:118,107:31,44:12,6:chr1 g.146454641T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146454644 . T C 156 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=71;PC=0.006;Gene=NBPF20/NM_001278267.1/1;CC=c.13635-94T>C;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1715T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9624-94T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3117-94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:66:0:0:48,23:1522,721:155.64,0.00:158.05,0.00:-2.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:25,40:79.7,43.3:0,0:0,0:109,118:42,31:5,15:chr1 g.146454643T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146454694 . C G 27 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;PC=0.062;Gene=NBPF20/NM_001278267.1/1;CC=c.13635-44C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1665C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9624-44C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3117-44C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:62:0:0:0:52,10:1756,339:0.00,26.78:0.00,0.00:0.00,26.78:0.00,0.99:0.00,0.00:0.00,0.99:40,19:44.6,45.7:0,0:0,0:24,34:127,116:11,19:-,chr1 g.146454693C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146454761 . T C 204 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=72;PC=0.131;Gene=NBPF20/NM_001278267.1/1;CC=c.13658T>C;ProtCh=p.V4553A;VC=Missense;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1598T>C;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9647T>C;ProtCh=p.V3216A;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3140T>C;ProtCh=p.V1047A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:72:0:0:0:55,17:1949,525:204.07,0.00:0.00,0.00:204.07,0.00:1.00,0.00:0.00,0.00:1.00,0.00:17,40:47.0,32.9:0,0:0,0:86,82:64,68:13,22:chr1 g.146454760T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146454845 . A T 22 end;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;PC=0.010;Gene=NBPF20/NM_001278267.1/1;CC=c.13742A>T;ProtCh=p.Q4581L;VC=Missense;Gene=NBPF10/NM_001039703.5/1;CC=c.9399-1514A>T;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.9731A>T;ProtCh=p.Q3244L;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.3224A>T;ProtCh=p.Q1075L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,T:11:0:0:0:4,7:133,222:0.00,22.41:0.00,0.00:0.00,22.41:0.00,1.00:0.00,0.00:0.00,1.00:40,14:0.0,67.1:0,0:0,0:136,146:13,4:7,3:-,chr1 g.146454844A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146465636 rs375792701 C G 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=923;PC=0.147;Gene=NBPF20/NM_001278267.1/1;CC=c.14649-242C>G;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.10638-242C>G;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.11145-242C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.4131-242C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:15:0:0:17:521:60.17:42.93:17.25:1.00:1.00:1.00:57:46.1:0:0:43:106:22:chr1 g.146465635C>G (intergenic),chr1 g.146465635C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146465785 rs587762314 T A 7 end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.997;Gene=NBPF20/NM_001278267.1/1;CC=c.14649-93T>A;VC=Intron;Gene=NBPF10/NM_001039703.5/1;CC=c.10638-93T>A;VC=Intron;Gene=NBPF10/NM_001302371.1/0;CC=c.11145-93T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.4131-93T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,T:30:25:0:0:4,26:101,885:6.91,0.00:2.12,0.00:4.79,0.00:0.64,0.00:0.92,0.00:0.67,0.00:42,42:33.2,15.6:0,0:0,0:147,44:3,104:0,30:chr1 g.146465784T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 146466146 rs587731974 G T 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1343;PC=0.045;Gene=NBPF20/NM_001278267.1/1;CC=c.*25G>T;VC=3UTR;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF12/NM_001278141.1/1;CC=c.*25G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:G,T:14:6:0:0:1,13:36,418:0.00,46.43:0.00,12.83:0.00,33.60:0.00,1.00:0.00,1.00:0.00,1.00:24,51:128.0,34.5:0,0:0,0:90,113:61,36:0,18:-,chr1 g.146466145G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146491003 rs78615071 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8988,T/0.1012;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,T:9:9:0:0:4,5:133,168:12.52,0.00:10.89,0.00:1.63,0.00:0.85,0.00:0.85,0.00:0.74,0.00:50,56:42.0,26.4:0,0:0,0:125,91:24,60:16,20:NR_024442.1(LOC728989) n.968A>G,-:0.13,-:NOT_FOUND,- 1 146491057 rs11240072 C A 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7139,A/0.2861;PC=0.001;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,C:11:7:0:0:6,5:194,143:18.98,0.00:9.29,0.00:9.69,0.00:0.98,0.00:0.99,0.00:0.99,0.00:40,25:72.8,51.4:0,0:0,0:40,37:110,112:28,28:NR_024442.1(LOC728989) n.914G>T,-:0.3,-:NOT_FOUND,- 1 146491095 rs11240073 A G 65 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.2075,A/0.7925;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:11:0:0:18:564:64.92:36.45:28.47:1.00:1.00:1.00:49:53.3:0:0:48:103:27:NR_024442.1(LOC728989) n.=,NR_024442.1(LOC728989) n.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146491156 rs74481866 A C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8792,A/0.1208;NP=101;PC=0.904;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,C:23:16:0:0:18,5:606,168:0.00,13.96:0.00,5.41:0.00,8.55:0.00,0.84:0.00,0.95:0.00,0.91:52,40:26.6,92.4:0,0:0,0:62,52:88,99:23,47:-,NR_024442.1(LOC728989) n.815T>G:-,NOT_FOUND:-,NOT_FOUND 1 146491316 rs149172683 C T 30 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8379,T/0.1621;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:17:4:0:0:1,7,9:13,211,306:0.45,0.00,30.12:-0.05,0.00,1.10:0.50,0.00,29.02:0.00,0.00,1.00:0.00,0.00,0.95:0.00,0.00,1.00:40,25,41:35.0,0.0,47.0:0,0,0:0,0,0:5,116,43:146,34,106:0,29,33:-,NR_024442.1(LOC728989) n.718-63G>A:-,0.17:-,NOT_FOUND 1 146492425 . G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;NP=5;PC=0.533;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:32:21:0:0:5,27:161,846:12.47,0.00:13.39,0.00:-0.92,0.00:0.79,0.00:0.93,0.00:0.84,0.00:40,41:231.2,7.0:0,0:0,0:10,70:140,80:10,42:NR_024442.1(LOC728989) n.717+845C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 146492439 . A T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,T:27:20:0:0:22,5:720,167:0.00,13.47:0.00,14.31:0.00,-0.84:0.00,0.82:0.00,0.96:0.00,0.86:41,40:4.6,231.2:0,0:0,0:81,24:69,126:28,10:-,NR_024442.1(LOC728989) n.717+831T>A:-,NOT_FOUND:-,NOT_FOUND 1 146492441 . T C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,T:27:20:0:0:5,22:165,708:13.27,0.00:14.11,0.00:-0.84,0.00:0.82,0.00:0.96,0.00:0.86,0.00:40,41:231.2,4.2:0,0:0,0:26,78:124,73:10,28:NR_024442.1(LOC728989) n.717+829A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146492473 . A G 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;PC=0.001;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:21:0:0:21,7:682,229:0.00,19.41:0.00,20.41:0.00,-1.00:0.00,0.96:0.00,0.99:0.00,0.89:41,40:6.1,227.7:0,0:0,0:93,50:56,100:25,24:-,NR_024442.1(LOC728989) n.717+797T>C:-,NOT_FOUND:-,NOT_FOUND 1 146492476 . G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,G:29:22:0:0:7,22:224,744:18.78,0.00:19.74,0.00:-0.96,0.00:0.96,0.00:0.99,0.00:0.88,0.00:40,41:227.7,7.4:0,0:0,0:53,92:97,57:24,26:NR_024442.1(LOC728989) n.717+794C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 146492528 . G C 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:21:0:0:10,22:325,711:28.64,0.00:19.09,0.00:9.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:229.7,20.3:0,0:0,0:54,50:96,101:34,35:NR_024442.1(LOC728989) n.717+742C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146492581 rs12752880 G A 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.8277,G/0.1723;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:21:0:0:13,25:431,821:38.72,0.00:20.01,0.00:18.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,109.8:0,0:0,0:79,68:72,81:27,15:NR_024442.1(LOC728989) n.717+689C>T,-:0.19,-:NOT_FOUND,- 1 146492590 . C T 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:19:0:0:27,10:877,327:0.00,28.10:0.00,6.89:0.00,21.20:0.00,1.00:0.00,0.99:0.00,1.00:60,54:20.6,253.2:0,0:0,0:69,77:71,72:29,15:-,NR_024442.1(LOC728989) n.717+680G>A:-,NOT_FOUND:-,NOT_FOUND 1 146492591 . A G 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:19:0:0:27,10:904,352:0.00,30.60:0.00,6.99:0.00,23.60:0.00,1.00:0.00,0.99:0.00,1.00:60,54:20.7,253.2:0,0:0,0:79,78:69,71:32,15:-,NR_024442.1(LOC728989) n.717+679T>C:-,NOT_FOUND:-,NOT_FOUND 1 146492601 . T C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;PC=0.001;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:19:0:0:10,28:342,926:29.47,0.00:6.66,0.00:22.81,0.00:1.00,0.00:0.86,0.00:1.00,0.00:54,60:253.4,21.1:0,0:0,0:85,80:64,60:12,30:NR_024442.1(LOC728989) n.717+669A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146492602 . G A 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;PC=0.005;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:19:0:0:10,28:325,928:27.77,0.00:6.61,0.00:21.16,0.00:1.00,0.00:0.86,0.00:1.00,0.00:54,60:253.2,21.3:0,0:0,0:89,84:60,59:15,29:NR_024442.1(LOC728989) n.717+668C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 146492611 rs113257538 A G 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:18:0:0:28,10:923,322:0.00,27.47:0.00,6.44:0.00,21.03:0.00,1.00:0.00,0.99:0.00,1.00:60,54:21.2,253.4:0,0:0,0:90,95:51,54:29,12:-,NR_024442.1(LOC728989) n.717+659T>C:-,NOT_FOUND:-,NOT_FOUND 1 146492641 . T G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:G,T:37:15:0:0:6,31:202,983:15.95,0.00:1.69,0.00:14.25,0.00:0.88,0.00:0.87,0.00:0.96,0.00:54,60:276.5,29.1:0,0:0,0:118,91:31,54:7,38:NR_024442.1(LOC728989) n.717+629A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 146492642 . G A 14 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:36:15:0:0:7,29:184,930:14.06,0.00:1.63,0.00:12.44,0.00:0.94,0.00:0.92,0.00:0.98,0.00:54,60:278.4,20.0:0,0:0,0:124,92:27,57:6,38:NR_024442.1(LOC728989) n.717+628C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 146492649 . T C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:C,T:36:15:0:0:6,30:210,904:16.82,0.00:5.69,0.00:11.14,0.00:0.89,0.00:0.88,0.00:0.68,0.00:43,60:281.0,28.1:0,0:0,0:131,99:19,51:5,38:NR_024442.1(LOC728989) n.717+621A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146492730 rs12753089 G A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.8285,G/0.1715;PC=0.002;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:13:0:0:12,10:417,305:40.84,0.00:30.14,0.00:10.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,50.1:0,0:0,0:76,82:74,62:39,24:NR_024442.1(LOC728989) n.717+540C>T,-:0.19,-:NOT_FOUND,- 1 146493097 rs149759471 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:9:5:0:0:4,5:127,144:11.93,0.00:5.59,0.00:6.34,0.00:0.85,0.00:0.94,0.00:0.91,0.00:40,50:31.8,12.0:0,0:0,0:69,39:82,109:56,26:NR_024442.1(LOC728989) n.717+173C>T,-:0.19,-:NOT_FOUND,- 1 146493279 rs3929735 C T 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2688,C/0.7312;NP=2757;PC=0.996;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:5:0:0:13:413:47.50:17.58:29.91:1.00:1.00:1.00:40:81.8:0:0:40:110:28:NR_024442.1(LOC728989) n.707C>T,NR_024442.1(LOC728989) n.707C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146493280 rs3929736 A G 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1907,A/0.8093;NP=2950;PC=0.997;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:5:0:0:13:440:50.20:19.78:30.42:1.00:1.00:1.00:40:81.8:0:0:41:109:28:NR_024442.1(LOC728989) n.708A>G,NR_024442.1(LOC728989) n.708A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146494510 rs11585592 T C 102 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.6649,T/0.3351;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:49:0:0:30,25:1038,817:101.65,0.00:79.42,0.00:22.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:48,60:76.7,6.5:0,0:0,0:55,49:91,100:36,35:NR_024442.1(LOC728989) n.563A>G,-:0.31,-:NOT_FOUND,- 1 146494511 rs11587748 G A 104 nt VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.8267,G/0.1733;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:51:0:0:32,25:1056,872:103.87,0.00:82.36,0.00:21.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.6,2.8:0,0:0,0:45,55:105,96:28,28:NR_024442.1(LOC728989) n.562C>T,-:0.15,-:NOT_FOUND,- 1 146494686 . T C 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;NP=15;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:77:39:0:0:9,68:291,2175:21.34,0.00:7.15,0.00:14.19,0.00:0.97,0.00:0.97,0.00:1.00,0.00:45,60:59.1,7.6:0,0:0,0:135,108:6,37:8,25:NR_024442.1(LOC728989) n.435-48A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146494690 . A G 13 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=70;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G:70:35:0:0:64,6:1996,195:0.00,13.48:0.00,3.21:0.00,10.27:0.00,0.80:0.00,0.88:0.00,0.98:60,40:7.6,66.2:0,0:0,0:108,133:40,3:24,3:-,NR_024442.1(LOC728989) n.435-52T>C:-,NOT_FOUND:-,NOT_FOUND 1 146495331 rs1983857 G C 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3524,G/0.6476;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:206:23.90:23.90:0.00:1.00:1.00:0.00:60:35.0:0:0:20:131:14:NR_024442.1(LOC728989) n.434+241C>G,NR_024442.1(LOC728989) n.434+241C>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 146495506 rs4245681 T G 109 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.004792,T/0.9952;NP=2573;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:26:0:0:28:961:109.45:100.01:9.44:1.00:1.00:1.00:60:40.0:0:0:51:99:20:NR_024442.1(LOC728989) n.434+66A>C,NR_024442.1(LOC728989) n.434+66A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 146495752 rs6663770 C T 95 nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.8047,C/0.1953;PC=1.000;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:31:0:0:32,31:1004,988:0.00,94.70:0.00,26.17:0.00,68.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,44.0:0,0:0,0:75,72:71,77:32,43:-,NR_024442.1(LOC728989) n.254G>A:-,0.16:-,NOT_FOUND 1 146496260 rs7534094 A T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8379,T/0.1621;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,T:5:5:0:0:2,3:66,105:0.00,10.47:0.00,10.47:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,38.3:0,0:0,0:30,18:119,133:28,4:-,NR_024442.1(LOC728989) n.207+107T>A:-,0.16:-,NOT_FOUND 1 146498532 rs12049533 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7965,T/0.2035;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,T:5:5:0:0:2,3:57,96:0.00,9.57:0.00,9.57:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:7.5,32.0:0,0:0,0:52,85:97,66:25,1:-,NR_024442.1(LOC728989) n.91-2049G>A:-,0.17:-,NOT_FOUND 1 146498699 rs6704429 C G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.616,C/0.384;PC=0.011;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,G:9:4:0:0:4,5:109,173:0.00,17.01:0.00,3.24:0.00,13.77:0.00,0.96:0.00,0.96:0.00,1.00:60,60:40.5,76.2:0,0:0,0:134,102:16,38:15,11:-,NR_024442.1(LOC728989) n.91-2216G>C:-,0.37:-,NOT_FOUND 1 146498729 rs12743597 A G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5114,A/0.4886;PC=0.001;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:2:0:0:7:220:25.34:3.68:21.66:1.00:1.00:1.00:60:86.6:0:0:132:9:11:NR_024442.1(LOC728989) n.91-2246T>C,NR_024442.1(LOC728989) n.91-2246T>C:0.51,0.51:NOT_FOUND,NOT_FOUND 1 146500601 rs139160530 C CAAGG 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=17;Gene=LOC728989/NR_024442.2/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CAAGG:5:5:4:0:1,4:9,132:0.00,14.10:0.00,14.10:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:77.0,0.0:0,0:0,0:147,37:2,113:0,18:-,NR_024442.1(LOC728989) n.91-4119_91-4118insCCTT:-,0.14:-,NOT_FOUND 1 146501300 rs6665804 C T 150 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.6873,C/0.3127;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:T:41:23:0:0:41:1302:149.74:67.40:82.34:1.00:1.00:1.00:60:56.0:0:0:89:62:40:NR_024442.1(LOC728989) n.91-4817G>A,NR_024442.1(LOC728989) n.91-4817G>A:0.32,0.32:NOT_FOUND,NOT_FOUND 1 146501348 rs10900384 C T 103 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.6861,C/0.3139;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:13:0:0:29:890:102.76:35.93:66.83:1.00:1.00:1.00:60:64.5:0:0:97:54:23:NR_024442.1(LOC728989) n.91-4865G>A,NR_024442.1(LOC728989) n.91-4865G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 1 146501740 rs11809904 G A 159 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.6883,G/0.3117;PC=0.103;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:A:43:26:0:0:43:1383:158.73:81.49:77.24:1.00:1.00:1.00:56:77.7:0:0:78:73:30:NR_024442.1(LOC728989) n.91-5257C>T,NR_024442.1(LOC728989) n.91-5257C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146501792 rs11808402 T C 169 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.6743,T/0.3257;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:29:0:0:46:1473:169.10:90.86:78.25:1.00:1.00:1.00:51:102.2:0:0:74:76:41:NR_024442.1(LOC728989) n.91-5309A>G,NR_024442.1(LOC728989) n.91-5309A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 146501796 rs11809158 A T 161 nt VT=SNV;PN=G;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6741,A/0.3259;PC=0.001;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:T:46:29:0:0:46:1391:160.89:80.57:80.31:1.00:1.00:1.00:43:102.1:0:0:48:101:31:NR_024442.1(LOC728989) n.91-5313T>A,NR_024442.1(LOC728989) n.91-5313T>A:0.33,0.33:NOT_FOUND,NOT_FOUND 1 146501859 rs10900386 C T 145 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1859,C/0.8141;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:23:0:0:40:1264:145.38:75.74:69.64:1.00:1.00:1.00:43:82.6:0:0:84:66:25:NR_024442.1(LOC728989) n.91-5376G>A,NR_024442.1(LOC728989) n.91-5376G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 146502044 rs12742988 C T 250 nt VT=SNV;PN=G;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.7063,C/0.2937;PC=0.953;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:71:47:0:0:71:2167:250.38:126.52:123.86:1.00:1.00:1.00:60:55.4:0:0:73:76:44:NR_024442.1(LOC728989) n.91-5561G>A,NR_024442.1(LOC728989) n.91-5561G>A:0.31,0.31:NOT_FOUND,NOT_FOUND 1 146502145 rs587687550 G T 243 nt VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=250;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:66:47:0:0:66:2121:243.47:153.68:89.79:1.00:1.00:1.00:60:76.2:0:0:64:87:38:NR_024442.1(LOC728989) n.91-5662C>A,NR_024442.1(LOC728989) n.91-5662C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146502146 rs12137558 T C 244 nt VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.6767,T/0.3233;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:66:47:0:0:66:2128:244.20:154.51:89.69:1.00:1.00:1.00:60:75.8:0:0:65:86:38:NR_024442.1(LOC728989) n.91-5663A>G,NR_024442.1(LOC728989) n.91-5663A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146502533 rs4950331 C T 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1859,C/0.8141,G/.;PC=0.001;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:6:0:0:7:235:26.84:22.86:3.98:1.00:1.00:1.00:60:51.4:0:0:82:69:15:NR_024442.1(LOC728989) n.91-6050G>A,NR_024442.1(LOC728989) n.91-6050G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 146502615 rs4950332 T G 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6823,T/0.3177;PC=1.000;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:4:0:0:10:325:37.27:9.39:27.88:1.00:1.00:1.00:60:42.7:0:0:35:116:14:NR_024442.1(LOC728989) n.91-6132A>C,NR_024442.1(LOC728989) n.91-6132A>C:0.33,0.33:NOT_FOUND,NOT_FOUND 1 146504857 rs3851279 G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7095,G/0.2905;PC=0.003;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:108:12.70:12.70:0.00:1.00:1.00:0.00:27:142.5:0:0:60:90:29:NR_024442.1(LOC728989) n.91-8374C>T,NR_024442.1(LOC728989) n.91-8374C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 1 146504878 rs998672 T C 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6995,T/0.3005;PC=0.004;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:179:20.73:20.73:0.00:1.00:1.00:0.00:40:139.7:0:0:46:104:39:NR_024442.1(LOC728989) n.91-8395A>G,NR_024442.1(LOC728989) n.91-8395A>G:0.26,0.26:NOT_FOUND,NOT_FOUND 1 146504890 rs3862921 C T 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7157,C/0.2843;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:209:24.24:24.24:0.00:1.00:1.00:0.00:40:133.6:0:0:35:116:33:NR_024442.1(LOC728989) n.91-8407G>A,NR_024442.1(LOC728989) n.91-8407G>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 146504929 rs12123494 C T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7362,C/0.2638;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:274:31.68:31.68:0.00:1.00:1.00:0.00:43:114.0:0:0:53:98:23:NR_024442.1(LOC728989) n.91-8446G>A,NR_024442.1(LOC728989) n.91-8446G>A:0.26,0.26:NOT_FOUND,NOT_FOUND 1 146504960 rs3862922 C T 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6835,C/0.3165;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:15:0:0:16:511:58.73:55.85:2.88:1.00:1.00:1.00:49:66.7:0:0:18:131:17:NR_024442.1(LOC728989) n.91-8477G>A,NR_024442.1(LOC728989) n.91-8477G>A:0.31,0.31:NOT_FOUND,NOT_FOUND 1 146514576 rs34026136 T C 241 nt VT=SNV;PN=A;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.8874,T/0.1126;PC=1.000;Gene=LOC728989/NR_024442.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C:63:46:0:0:63:2108:240.78:124.42:116.36:1.00:1.00:1.00:60:41.2:0:0:77:72:26:NR_024442.1(LOC728989) n.24A>G,NR_024442.1(LOC728989) n.24A>G:0.15,0.15:NOT_FOUND,NOT_FOUND 1 146515859 . TAAA T 16 idl,nt VT=DEL;SST=Single;DP=10;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:TAAA,T:8:10:0:8:3,5:84,231:0.00,16.39:0.00,12.96:0.00,3.43:0.00,1.00:0.00,1.00:0.00,0.89:60,60:38.7,5.0:0,2:0,0:121,90:14,61:21,8:-,NR_024442.1(LOC728989) n.-1263_-1261delTTT:-,NOT_FOUND:-,NOT_FOUND 1 146523303 rs12723253 C T 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.8754,T/0.1246;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:12:0:0:16,15:530,443:0.00,42.08:0.00,15.33:0.00,26.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,47.9:0,0:0,0:95,97:55,44:40,15:-,chr1 g.146523302C>T (intergenic):-,0.15:-,NOT_FOUND 1 146523897 rs12124149 G T 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8854,T/0.1146;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:15:0:0:13,14:429,428:0.00,41.34:0.00,17.42:0.00,23.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,30.6:0,0:0,0:90,102:45,41:40,38:-,chr1 g.146523896G>T (intergenic):-,0.14:-,NOT_FOUND 1 146556326 rs4528168 G C 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2642,G/0.7358;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:177:20.08:16.21:3.88:1.00:1.00:1.00:60:44.2:0:0:72:78:19:chr1 g.146556325G>C (intergenic),chr1 g.146556325G>C (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 1 146568063 . AATGTGTGTGTGTGTCT A 8 idl,nt VT=DEL;SST=Single;DP=6;NP=105;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AATGTGTGTGTGTGTCT,A:4:5:0:5:1,3:33,145:0.00,8.43:0.00,9.13:0.00,-0.70:0.00,0.73:0.00,0.96:0.00,0.51:51,70:0.0,14.0:0,2:0,0:26,73:65,69:0,37:-,chr1 g.146568064_146568079delATGTGTGTGTGTGTCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 146583429 rs56864370 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8019,G/0.1981;PC=0.001;Gene=NBPF13P/NR_103466.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,G:11:11:0:0:6,5:200,113:0.00,10.29:0.00,10.29:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,32.4:0,0:0,0:54,34:96,117:17,20:-,chr1 g.146583428A>G (intergenic):-,0.19:-,NOT_FOUND 1 146583568 rs6686480 G A 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.8051,A/0.1949;Gene=NBPF13P/NR_103466.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:25:0:0:13,17:428,576:40.09,0.00:28.04,0.00:12.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.9,11.5:0,0:0,0:44,52:106,90:33,33:chr1 g.146583567G>A (intergenic),-:0.16,-:NOT_FOUND,- 1 146583569 rs6700783 A T 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.8053,T/0.1947;Gene=NBPF13P/NR_103466.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:30:25:0:0:17,13:582,422:0.00,39.49:0.00,29.14:0.00,10.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,74.2:0,0:0,0:53,44:89,107:33,32:-,chr1 g.146583568A>T (intergenic):-,0.16:-,NOT_FOUND 1 146584161 rs1813002 C G 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8027,G/0.1973,T/.;PC=0.002;Gene=NBPF13P/NR_103466.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:14:13:0:0:7,7:242,238:0.00,22.92:0.00,19.65:0.00,3.28:0.00,0.99:0.00,1.00:0.00,0.67:60,60:0.0,34.0:0,0:0,0:69,32:82,119:41,27:-,chr1 g.146584160C>G (intergenic):-,0.19:-,NOT_FOUND 1 146584316 rs61838947 T A 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.8325,A/0.1675;PC=0.131;Gene=NBPF13P/NR_103466.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:52:35:0:0:15,37:443,1181:37.88,0.00:13.29,0.00:24.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.8,10.1:0,0:0,0:76,76:74,74:27,31:chr1 g.146584315T>A (intergenic),-:0.15,-:NOT_FOUND,- 1 146584337 rs76757751 G A 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.8049,A/0.1951;Gene=NBPF13P/NR_103466.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:30:0:0:12,35:392,1061:33.35,0.00:9.71,0.00:23.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.7,7.2:0,0:0,0:97,97:53,53:28,27:chr1 g.146584336G>A (intergenic),-:0.18,-:NOT_FOUND,- 1 146585146 rs151315300 A G 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9882,G/0.01178;PC=0.104;Gene=NBPF13P/NR_103466.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,G:9:5:0:0:4,5:131,166:0.00,16.30:0.00,12.15:0.00,4.15:0.00,0.96:0.00,0.98:0.00,0.99:60,60:9.2,35.8:0,0:0,0:67,86:83,65:30,33:-,chr1 g.146585145A>G (intergenic):-,0.01:-,NOT_FOUND 1 146589003 rs56151278 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8437,C/0.1563 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:96,34:10.05,0.00:10.05,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:70.3,36.0:0,0:0,0:65,68:86,82:1,0:chr1 g.146589002T>C (intergenic),-:0.15,-:NOT_FOUND,- 1 146589293 rs4950305 C A 110 nt VT=SNV;PN=C;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.8033,A/0.1967 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:86:74:0:0:35,51:1181,1687:109.56,0.00:64.37,0.00:45.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,5.2:0,0:0,0:55,36:94,107:25,20:chr1 g.146589292C>A (intergenic),-:0.19,-:NOT_FOUND,- 1 146589420 rs4950306 C G 85 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.8437,G/0.1563;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:58:17:0:0:31,27:1055,900:0.00,85.47:0.00,15.40:0.00,70.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,49.4:0,0:0,0:117,96:30,36:26,26:-,chr1 g.146589419C>G (intergenic):-,0.15:-,NOT_FOUND 1 146592787 rs55697094 T C 10 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8325,C/0.1675;PC=0.113 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:2:0:0:3,1:94,35:9.85,0.00:1.63,0.00:8.23,0.00:0.85,0.00:0.95,0.00:0.85,0.00:60,60:72.3,0.0:0,0:0,0:128,60:23,91:10,0:chr1 g.146592786T>C (intergenic),-:0.16,-:NOT_FOUND,- 1 146631222 . C . . NT END=146633290;NT GT ./. 1 146633360 . C . . NT END=146634018;NT GT ./. 1 146633933 rs1036852 G A 26 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2855,A/0.7145;PC=0.427;Gene=PRKAB2/NM_005399.4/1;CC=c.672+86C>T;VC=Intron;Gene=PRKAB2/NR_103870.1/0;VC=NonCoding;Gene=PRKAB2/NR_103871.1/0;VC=NonCoding;DM=PRKAB2/AMPKBI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:14:0:0:8,7:267,239:26.02,0.00:26.68,0.00:-0.66,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:46.2,1.9:0,0:0,0:55,48:95,103:28,21:NM_005399.3(PRKAB2) c.672+86C>T,-:0.68,-:NOT_FOUND,- 1 146634153 . C . . NT END=146638076;NT GT ./. 1 146637944 . CTCTG C 19 nt VT=DEL;SST=Single;DP=10;NP=320;Gene=PRKAB2/NM_005399.4/1;CC=c.538+129_538+132delCAGA;VC=Intron;Gene=PRKAB2/NR_103870.1/0;VC=NonCoding;Gene=PRKAB2/NR_103871.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:CTCTG,C:10:10:0:6:4,6:139,190:0.00,18.94:0.00,18.94:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:42.8,18.3:0,0:0,0:32,111:118,39:9,21:-,NM_005399.3(PRKAB2) c.538+129_538+132delCAGA:-,0.15:-,NOT_FOUND 1 146638198 . C . . NT END=146638424;NT GT ./. 1 146638519 . C . . NT END=146639345;NT GT ./. 1 146639513 . C . . NT END=146643567;NT GT ./. 1 146643555 rs1348316 A G 151 nt VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.3305,G/0.6695;Gene=PRKAB2/NM_005399.4/1;CC=c.156+13T>C;VC=Intron;Gene=PRKAB2/NR_103870.1/0;VC=NonCoding;Gene=PRKAB2/NR_103871.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:90:73:0:0:42,48:1344,1546:0.00,150.50:0.00,97.82:0.00,52.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,40.2:0,0:0,0:58,51:88,89:29,18:-,NM_005399.3(PRKAB2) c.156+13T>C:-,0.64:-,0.490306 1 146643724 . G . . NT END=146657839;NT GT ./. 1 146658041 rs369880523 G GA 70 rn VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.8452,GA/0.1548;DB;DBA=NA;PAF=G/0.8452,GA/0.1548;DB;DBA=NA;PAF=NA;NP=3;PC=0.708;Gene=FMO5/NM_001144829.2/0;CC=c.1257-1833dupT;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.*828dupT;VC=3UTR;Gene=FMO5/NM_001461.3/1;CC=c.*437dupT;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GA:48:33:24:0:23,1,24:757,12,727:0.00,0.07,70.00:0.00,0.15,41.98:0.00,-0.08,28.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.9,18.0,11.3:0,0,0:0,0,0:67,149,68:83,1,82:35,0,41:-,NM_001461.2(FMO5) c.*437dupT:-,0.15:-,NOT_FOUND 1 146658825 . C . . NT END=146661755;NT GT ./. 1 146661829 . C . . NT END=146672733;NT GT ./. 1 146672906 rs894469 C T 318 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;PC=0.824;Gene=FMO5/NM_001144829.2/0;CC=c.1011G>A;ProtCh=p.P337=;VC=Silent;Gene=FMO5/NM_001144830.2/0;CC=c.830+7508G>A;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.1011G>A;ProtCh=p.P337=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:87:59:0:0:87:2765:317.87:168.16:149.71:1.00:1.00:1.00:60:37.4:0:0:58:87:35:NM_001461.2(FMO5) c.1011G>A (p.(=)),NM_001461.2(FMO5) c.1011G>A (p.(=)):0.92,0.92:0.894972,0.894972 1 146673087 . C . . NT END=146680413;NT GT ./. 1 146673178 rs6683215 A G 98 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.02935,A/0.9706;Gene=FMO5/NM_001144829.2/0;CC=c.831-92T>C;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+7236T>C;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.831-92T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:0:0:0:26:853:97.67:0.00:97.67:1.00:0.00:1.00:60:46.7:0:0:100:49:20:NM_001461.2(FMO5) c.831-92T>C,NM_001461.2(FMO5) c.831-92T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 146674693 rs7543331 T C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5735,T/0.4265;PC=0.356;Gene=FMO5/NM_001144829.2/0;CC=c.831-1607A>G;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+5721A>G;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.831-1607A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:6:6:0:0:5,1:172,34:18.41,0.00:18.41,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:61.2,98.0:2,1:0,0:36,89:96,59:20,0:NM_001461.2(FMO5) c.831-1607A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 146675284 rs10900324 C T 159 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.1042,C/0.8958;PC=1.000;Gene=FMO5/NM_001144829.2/0;CC=c.831-2198G>A;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+5130G>A;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.831-2198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:C,T:44:32:0:0:2,42:13,1419:0.00,159.34:0.00,107.57:0.00,51.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.0,49.2:0,0:0,0:26,66:125,83:16,26:NM_001461.2(FMO5) c.831-2198G>A,NM_001461.2(FMO5) c.831-2198G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 146675382 rs10751403 T C 177 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=1.000;Gene=FMO5/NM_001144829.2/0;CC=c.831-2296A>G;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+5032A>G;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.831-2296A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A,C:51:28:0:0:1,50:11,1535:0.22,176.73:0.00,68.16:0.22,108.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:98.0,46.1:0,0:0,0:63,81:88,59:0,30:NM_001461.2(FMO5) c.831-2296A>G,NM_001461.2(FMO5) c.831-2296A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 146675551 rs4950386 A G 108 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.04034,A/0.9597;PC=0.998;Gene=FMO5/NM_001144829.2/0;CC=c.831-2465T>C;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+4863T>C;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.831-2465T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:17:0:0:31:937:108.29:45.52:62.77:1.00:1.00:1.00:60:39.0:0:0:70:80:44:NM_001461.2(FMO5) c.831-2465T>C,NM_001461.2(FMO5) c.831-2465T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 146676190 rs6593745 A G 92 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.4349,A/0.5651;PC=1.000;Gene=FMO5/NM_001144829.2/0;CC=c.831-3104T>C;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+4224T>C;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.831-3104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:50:0:0:43,34:1420,989:0.00,92.07:0.00,37.92:0.00,54.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,34.8:0,0:0,0:62,78:84,68:33,32:-,NM_001461.2(FMO5) c.831-3104T>C:-,0.6:-,NOT_FOUND 1 146676339 rs7546434 A G 180 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.976;Gene=FMO5/NM_001144829.2/0;CC=c.831-3253T>C;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+4075T>C;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.831-3253T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:30:0:0:48:1571:179.97:95.42:84.55:1.00:1.00:1.00:60:37.9:0:0:85:65:37:NM_001461.2(FMO5) c.831-3253T>C,NM_001461.2(FMO5) c.831-3253T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 146676837 rs7527894 C T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.399,C/0.601;Gene=FMO5/NM_001144829.2/0;CC=c.830+3577G>A;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+3577G>A;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.830+3577G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:0:0:0:1,3:36,81:0.00,8.55:0.00,0.00:0.00,8.55:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,70.3:0,0:0,0:16,74:134,77:0,55:-,NM_001461.2(FMO5) c.830+3577G>A:-,0.63:-,NOT_FOUND 1 146680262 rs2354433 A G 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1042,A/0.8958;Gene=FMO5/NM_001144829.2/0;CC=c.830+152T>C;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.830+152T>C;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.830+152T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:455:51.70:51.70:0.00:1.00:1.00:0.00:60:39.4:0:0:64:87:20:NM_001461.2(FMO5) c.830+152T>C,NM_001461.2(FMO5) c.830+152T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 146680614 . C . . NT END=146683960;NT GT ./. 1 146680808 rs192557539 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.999,T/0.0009984;NP=5;PC=0.061;Gene=FMO5/NM_001144829.2/0;CC=c.631-195G>A;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.631-195G>A;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.631-195G>A;VC=Intron;DM=FMO5/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:8,8:189,272:0.00,26.31:0.00,0.00:0.00,26.31:0.00,1.00:0.00,0.00:0.00,1.00:60,60:20.2,40.1:0,0:0,0:106,74:39,77:26,36:-,NM_001461.2(FMO5) c.631-195G>A:-,0.0023:-,NOT_FOUND 1 146684104 . C . . NT END=146684874;NT GT ./. 1 146685038 . C . . NT END=146687323;NT GT ./. 1 146685121 rs1530336 G A 110 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.1046,G/0.8954;PC=0.216;Gene=FMO5/NM_001144829.2/0;CC=c.325-84C>T;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.325-84C>T;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.325-84C>T;VC=Intron;DM=FMO5/FMO-like;DM=FMO5/FMO-like;DM=FMO5/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A,C:33:4:0:0:32,1:949,11:109.63,0.30:7.58,0.00:102.05,0.30:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,45.0:0,0:0,0:115,51:35,99:23,0:NM_001461.2(FMO5) c.325-84C>T,NM_001461.2(FMO5) c.325-84C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 1 146685288 rs1530335 T C 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.104,T/0.896;Gene=FMO5/NM_001144829.2/0;CC=c.325-251A>G;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.325-251A>G;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.325-251A>G;VC=Intron;DM=FMO5/FMO-like;DM=FMO5/FMO-like;DM=FMO5/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:216:25.33:0.00:25.33:1.00:0.00:1.00:60:50.6:0:0:120:31:22:NM_001461.2(FMO5) c.325-251A>G,NM_001461.2(FMO5) c.325-251A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 146687250 rs1822312 A T 79 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.04034,A/0.9597;Gene=FMO5/NM_001144829.2/0;CC=c.324+74T>A;VC=Intron;Gene=FMO5/NM_001144830.2/0;CC=c.324+74T>A;VC=Intron;Gene=FMO5/NM_001461.3/1;CC=c.324+74T>A;VC=Intron;DM=FMO5/FMO-like;DM=FMO5/FMO-like;DM=FMO5/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:19:0:0:21:688:78.81:69.02:9.79:1.00:1.00:1.00:60:43.0:0:0:37:113:31:NM_001461.2(FMO5) c.324+74T>A,NM_001461.2(FMO5) c.324+74T>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 146687513 . C . . NT END=146696486;NT GT ./. 1 146696782 . T . . NT END=146714353;NT GT ./. 1 146696955 rs2289575 G C 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6577,G/0.3423;Gene=FMO5/NM_001144829.2/0;CC=c.-124C>G;VC=5UTR;Gene=FMO5/NM_001144830.2/0;CC=c.-334C>G;VC=5UTR;Gene=FMO5/NM_001461.3/1;CC=c.-114C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:0:0:0:10,8:316,264:30.97,0.00:0.00,0.00:30.97,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.5,3.1:0,0:0,0:106,87:44,63:31,37:NM_001461.2(FMO5) c.-114C>G,-:0.35,-:NOT_FOUND,- 1 146714255 rs1890040 A G 99 nt VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.3099,A/0.6901;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:72:69:0:0:35,36,1:1058,1038,13:0.00,99.44,0.04:0.00,83.75,0.07:0.00,15.69,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:16.2,72.0,141.0:0,0,0:0,0,0:67,43,112:84,104,39:25,22,0:-,NM_004284.4(CHD1L) c.-63-u36A>G:-,0.69:-,NOT_FOUND 1 146714281 rs1890041 C G 150 nt VT=SNV;PN=C;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.7165,C/0.2835 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:95:89:0:0:46,49:1412,1553:0.00,150.02:0.00,110.54:0.00,39.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.1,69.0:0,0:0,0:67,46:82,100:33,31:-,NM_004284.4(CHD1L) c.-63-u10C>G:-,0.3:-,NOT_FOUND 1 146714392 rs1890042 G C,T 290 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;PC=0.508 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:C,T:167:127:0:0:86,81:2742,2580:290.35,271.07:161.94,150.88:128.41,120.19:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,38.8:0,0:0,0:74,53:74,84:31,31:NM_004284.4(CHD1L) c.39G>C (p.(=)),NM_004284.4(CHD1L) c.39G>T (p.(=)):0.69,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 146714481 . G . . NT END=146724277;NT GT ./. 1 146714588 rs1890043 C T 132 nt VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.4617,C/0.5383;Gene=CHD1L/NM_001256336.1/0;CC=c.-67+108C>T;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.-187+108C>T;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.127+108C>T;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.127+108C>T;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.-185+108C>T;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:14:0:0:25,43:741,1311:0.00,132.11:0.00,28.07:0.00,104.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,42.5:0,0:0,0:101,121:50,30:27,17:-,NM_004284.4(CHD1L) c.127+108C>T:-,0.56:-,NOT_FOUND 1 146724093 rs1890037 A G 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.03195,A/0.9681;Gene=CHD1L/NM_001256336.1/0;CC=c.-66-185A>G;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.-186-7398A>G;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.127+9613A>G;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.128-185A>G;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.-184-185A>G;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:295:33.79:33.79:0.00:1.00:1.00:0.00:60:35.3:0:0:32:119:17:NM_004284.4(CHD1L) c.128-185A>G,NM_004284.4(CHD1L) c.128-185A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 146724391 . G . . NT END=146726524;NT GT ./. 1 146726632 . G . . NT END=146727467;NT GT ./. 1 146726846 rs7548820 G A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4269,A/0.5731;Gene=CHD1L/NM_001256336.1/0;CC=c.48-622G>A;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.-186-4645G>A;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.128-10745G>A;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.347+215G>A;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.8+215G>A;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;DM=CHD1L/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:7:0:0:0:3,4:90,114:8.36,0.00:0.00,0.00:8.36,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:37.3,1.8:0,0:0,0:123,134:28,16:23,11:NM_004284.4(CHD1L) c.347+215G>A,-:0.55,-:NOT_FOUND,- 1 146727388 rs17160051 G T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8207,T/0.1793;PC=0.082;Gene=CHD1L/NM_001256336.1/0;CC=c.48-80G>T;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.-186-4103G>T;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.128-10203G>T;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.348-80G>T;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.9-80G>T;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;DM=CHD1L/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:21:0:0:13,9:428,275:0.00,25.34:0.00,25.80:0.00,-0.46:0.00,1.00:0.00,1.00:0.00,0.81:60,60:10.1,34.2:0,0:0,0:33,40:118,111:15,18:-,NM_004284.4(CHD1L) c.348-80G>T:-,0.16:-,NOT_FOUND 1 146727583 . G . . NT END=146728184;NT GT ./. 1 146727763 rs1932978 G A 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4275,A/0.5725;Gene=CHD1L/NM_001256336.1/0;CC=c.162+181G>A;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.-186-3728G>A;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.128-9828G>A;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.462+181G>A;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.123+181G>A;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;DM=CHD1L/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:A,G:12:2:0:0:6,6:183,159:17.57,0.00:3.10,0.00:14.48,0.00:0.98,0.00:0.79,0.00:1.00,0.00:60,60:44.0,88.3:0,0:0,0:89,84:60,66:26,53:NM_004284.4(CHD1L) c.462+181G>A,-:0.54,-:NOT_FOUND,- 1 146728162 rs61409326 T TA 139 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2840;PC=0.219;Gene=CHD1L/NM_001256336.1/0;CC=c.163-22dupA;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.-186-3328dupA;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.128-9428dupA;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.463-22dupA;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.124-22dupA;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;DM=CHD1L/SNF2_N;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T,TA:41:31:40:0:1,40:9,1219:0.00,139.37:0.00,80.20:0.00,59.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.0,8.2:1,0:0,0:16,44:135,96:0,22:NM_004284.4(CHD1L) c.463-23_463-22insA,NM_004284.4(CHD1L) c.463-23_463-22insA:0.96,0.96:0.954618,0.954618 1 146728217 . G . . NT END=146731490;NT GT ./. 1 146731573 . G . . NT END=146736080;NT GT ./. 1 146736092 rs4950315 C T 70 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.8528,T/0.1472;PC=0.060;Gene=CHD1L/NM_001256336.1/0;CC=c.288C>T;ProtCh=p.V96=;VC=Silent;Gene=CHD1L/NM_001256337.1/0;CC=c.-104-1499C>T;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.128-1499C>T;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.588C>T;ProtCh=p.V196=;VC=Silent;Gene=CHD1L/NM_024568.2/0;CC=c.249C>T;ProtCh=p.V83=;VC=Silent;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;DM=CHD1L/SNF2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:50:43:0:0:1,25,24:7,769,738:-0.13,0.00,70.48:-0.08,0.00,46.28:-0.06,0.00,24.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:155.0,9.4,45.2:0,0,0:0,0,0:111,55,65:40,78,86:0,33,40:-,NM_004284.4(CHD1L) c.588C>T (p.(=)):-,0.14:-,0.170025 1 146736244 . G . . NT END=146737590;NT GT ./. 1 146737747 . G . . NT END=146739084;NT GT ./. 1 146739178 . G . . NT END=146740440;NT GT ./. 1 146739277 rs4143738 T C 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4297,T/0.5703;Gene=CHD1L/NM_001256336.1/0;CC=c.688+100T>C;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.145+100T>C;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.376+100T>C;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.988+100T>C;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.649+100T>C;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:C,T:17:0:0:0:12,5:405,164:41.75,0.00:0.00,0.00:41.75,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.8,0.0:0,0:0,0:95,95:55,56:38,31:NM_004284.4(CHD1L) c.988+100T>C,-:0.58,-:NOT_FOUND,- 1 146740502 rs17356233 C G 137 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.8528,A/.,G/0.1472;PC=0.250;Gene=CHD1L/NM_001256336.1/0;CC=c.750C>G;ProtCh=p.H250Q;VC=Missense;Gene=CHD1L/NM_001256337.1/0;CC=c.207C>G;ProtCh=p.H69Q;VC=Missense;Gene=CHD1L/NM_001256338.1/0;CC=c.438C>G;ProtCh=p.H146Q;VC=Missense;Gene=CHD1L/NM_004284.4/1;CC=c.1050C>G;ProtCh=p.H350Q;VC=Missense;Gene=CHD1L/NM_024568.2/0;CC=c.711C>G;ProtCh=p.H237Q;VC=Missense;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:67:47:0:0:27,40:862,1375:0.00,137.00:0.00,71.41:0.00,65.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,45.7:0,0:0,0:85,93:66,53:30,24:-,NM_004284.4(CHD1L) c.1050C>G (p.His350Gln):-,0.14:-,0.170537 1 146740538 . G . . NT END=146742592;NT GT ./. 1 146740576 rs11576360 G A 121 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.2628,G/0.7372;Gene=CHD1L/NM_001256336.1/0;CC=c.785+39G>A;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.242+39G>A;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.473+39G>A;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.1085+39G>A;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.746+39G>A;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;DM=CHD1L/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:11:0:0:34:1046:120.69:25.15:95.54:1.00:1.00:1.00:60:48.1:0:0:94:56:36:NM_004284.4(CHD1L) c.1085+39G>A,NM_004284.4(CHD1L) c.1085+39G>A:0.74,0.74:0.798524,0.798524 1 146742667 . G . . NT END=146743831;NT GT ./. 1 146743943 . G . . NT END=146747016;NT GT ./. 1 146747132 . G . . NT END=146747767;NT GT ./. 1 146747153 rs6680778 T C 157 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.2829,T/0.7171;Gene=CHD1L/NM_001256336.1/0;CC=c.1085+22T>C;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.542+22T>C;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.773+22T>C;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.1385+22T>C;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1046+22T>C;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:19:0:0:45:1357:157.01:42.35:114.66:1.00:1.00:1.00:60:41.8:0:0:106:45:27:NM_004284.4(CHD1L) c.1385+22T>C,NM_004284.4(CHD1L) c.1385+22T>C:0.72,0.72:0.77618,0.77618 1 146747232 rs6672850 C T 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.6637,C/0.3363;Gene=CHD1L/NM_001256336.1/0;CC=c.1085+101C>T;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.542+101C>T;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.773+101C>T;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.1385+101C>T;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1046+101C>T;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:10,9:249,294:0.00,28.05:0.00,0.00:0.00,28.05:0.00,1.00:0.00,0.00:0.00,1.00:60,60:43.1,61.8:0,0:0,0:112,117:38,33:24,24:-,NM_004284.4(CHD1L) c.1385+101C>T:-,0.37:-,NOT_FOUND 1 146747922 . G . . NT END=146751698;NT GT ./. 1 146748008 rs3831929 CAGCCA C 32 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=968;Gene=CHD1L/NM_001256336.1/0;CC=c.1239+88_1239+92delAGCCA;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.696+88_696+92delAGCCA;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.927+88_927+92delAGCCA;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.1539+88_1539+92delAGCCA;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1200+88_1200+92delAGCCA;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CAGCCA,C:35:4:0:12:1,22,12:11,715,362:0.02,0.00,32.33:-0.02,0.00,4.15:0.03,0.00,28.19:0.00,0.00,1.00:0.00,0.00,0.82:0.00,0.00,1.00:60,60,60:68.0,27.5,16.3:0,0,0:0,0,0:79,110,108:72,40,42:0,23,26:-,NM_004284.4(CHD1L) c.1539+88_1539+92delAGCCA:-,NOT_FOUND:-,NOT_FOUND 1 146748072 rs7534963 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.01238,A/0.9876;Gene=CHD1L/NM_001256336.1/0;CC=c.1239+151A>G;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.696+151A>G;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.927+151A>G;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.1539+151A>G;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1200+151A>G;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:0:0:0:13:418:48.00:0.00:48.00:1.00:0.00:1.00:60:61.5:0:0:107:44:23:NM_004284.4(CHD1L) c.1539+151A>G,NM_004284.4(CHD1L) c.1539+151A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 146751782 rs7547279 A C 401 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.03215,A/0.9679;PC=0.984;Gene=CHD1L/NM_001256336.1/0;CC=c.1323A>C;ProtCh=p.I441=;VC=Silent;Gene=CHD1L/NM_001256337.1/0;CC=c.780A>C;ProtCh=p.I260=;VC=Silent;Gene=CHD1L/NM_001256338.1/0;CC=c.1011A>C;ProtCh=p.I337=;VC=Silent;Gene=CHD1L/NM_004284.4/1;CC=c.1623A>C;ProtCh=p.I541=;VC=Silent;Gene=CHD1L/NM_024568.2/0;CC=c.1284A>C;ProtCh=p.I428=;VC=Silent;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:107:80:0:0:106,1:3514,10:401.48,0.09:217.09,0.09:184.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,113.0:0,0:0,0:85,132:62,19:37,0:NM_004284.4(CHD1L) c.=,NM_004284.4(CHD1L) c.=:0.97,0.97:0.953714,0.953714 1 146751865 . G . . NT END=146756023;NT GT ./. 1 146756173 . G . . NT END=146757000;NT GT ./. 1 146756222 rs67503815 AAAAC A 31 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1580;PC=0.011;Gene=CHD1L/NM_001256336.1/0;CC=c.1554+62_1554+65delCAAA;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1011+62_1011+65delCAAA;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1242+62_1242+65delCAAA;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.1854+62_1854+65delCAAA;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1515+62_1515+65delCAAA;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAAC,A:28:8:0:11:17,11:517,337:0.00,30.80:0.00,7.87:0.00,22.93:0.00,1.00:0.00,0.97:0.00,1.00:60,70:5.4,27.0:0,0:0,0:95,103:56,48:34,16:-,NM_004284.4(CHD1L) c.1854+51_1854+54delAAAC:-,0.36:-,0.317197 1 146756400 rs6704019 C T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6681,C/0.3319;PC=0.001;Gene=CHD1L/NM_001256336.1/0;CC=c.1554+228C>T;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1011+228C>T;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1242+228C>T;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.1854+228C>T;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1515+228C>T;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:0:0:0:1,3:36,93:0.00,9.75:0.00,0.00:0.00,9.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,49.7:0,0:0,0:87,131:63,20:0,19:-,NM_004284.4(CHD1L) c.1854+228C>T:-,0.37:-,NOT_FOUND 1 146757165 . G . . NT END=146757974;NT GT ./. 1 146758178 . G . . NT END=146759313;NT GT ./. 1 146758285 rs375904785 TAC T 23 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1081;Gene=CHD1L/NM_001256336.1/0;CC=c.1921+110_1921+111delCA;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1378+110_1378+111delCA;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1609+110_1609+111delCA;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2221+110_2221+111delCA;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1882+110_1882+111delCA;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAC,T:21:1:0:8:13,8:376,252:0.00,22.98:0.00,-0.10:0.00,23.08:0.00,0.99:0.00,0.59:0.00,0.99:60,60:20.5,11.1:0,0:0,0:124,96:27,54:17,30:-,NM_004284.4(CHD1L) c.2221+109_2221+110delAC:-,0.13:-,NOT_FOUND 1 146759306 rs6703892 T C 85 nt VT=SNV;PN=T;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.8524,C/0.1476;PC=0.263;Gene=CHD1L/NM_001256336.1/0;CC=c.1922-8T>C;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1379-8T>C;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1610-8T>C;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2222-8T>C;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1883-8T>C;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:46:0:0:26,30:891,947:84.75,0.00:52.16,0.00:32.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,7.5:0,0:0,0:51,65:91,82:25,27:NM_004284.4(CHD1L) c.2222-8T>C,-:0.14,-:0.170306,- 1 146759413 . G . . NT END=146763163;NT GT ./. 1 146759528 rs12755465 A G 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6809,A/0.3191;PC=0.001;Gene=CHD1L/NM_001256336.1/0;CC=c.2020+116A>G;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1477+116A>G;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1708+116A>G;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2320+116A>G;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1981+116A>G;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:18:0:0:0:10,1,7:329,17,235:0.00,0.71,21.83:0.00,0.00,0.00:0.00,0.71,21.83:0.00,0.00,0.98:0.00,0.00,0.00:0.00,0.00,0.98:60,60,60:3.6,17.0,36.4:0,0,0:0,0,0:87,136,81:64,15,70:25,0,20:-,NM_004284.4(CHD1L) c.2320+116A>G:-,0.35:-,NOT_FOUND 1 146763089 rs10900333 G A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.1761,G/0.8239;Gene=CHD1L/NM_001256336.1/0;CC=c.2021-75G>A;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1478-75G>A;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1709-75G>A;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2321-75G>A;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.1982-75G>A;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:16:0:0:8,9:266,310:25.31,0.00:21.70,0.00:3.61,0.00:0.99,0.00:1.00,0.00:0.77,0.00:60,60:40.2,0.0:0,0:0,0:32,82:117,68:22,41:NM_004284.4(CHD1L) c.2321-75G>A,-:0.83,-:NOT_FOUND,- 1 146763235 . G . . NT END=146765291;NT GT ./. 1 146763415 rs3737854 T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1763,T/0.8237;PC=0.003;Gene=CHD1L/NM_001256336.1/0;CC=c.2091+181T>C;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1548+181T>C;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1779+181T>C;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2391+181T>C;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.2052+181T>C;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:9:0:0:0:5,4:119,127:11.48,0.00:0.00,0.00:11.48,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:57.4,46.2:0,0:0,0:54,81:97,69:5,51:NM_004284.4(CHD1L) c.2391+181T>C,-:0.83,-:NOT_FOUND,- 1 146763438 rs10793659 A G 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.04692,A/0.9531;Gene=CHD1L/NM_001256336.1/0;CC=c.2091+204A>G;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1548+204A>G;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1779+204A>G;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2391+204A>G;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.2052+204A>G;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:0:0:0:8:216:25.36:0.00:25.36:1.00:0.00:1.00:60:54.8:0:0:74:76:15:NM_004284.4(CHD1L) c.2391+204A>G,NM_004284.4(CHD1L) c.2391+204A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 146765125 rs12726206 G A 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9149,G/0.08506;Gene=CHD1L/NM_001256336.1/0;CC=c.2092-167G>A;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1549-167G>A;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1780-167G>A;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2392-167G>A;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.2053-167G>A;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:14:14:0:0:8,6:248,168:24.48,0.00:24.48,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.9,21.2:0,0:0,0:28,33:123,116:19,19:NM_004284.4(CHD1L) c.2392-167G>A,-:0.12,-:NOT_FOUND,- 1 146765407 . G . . NT END=146766090;NT GT ./. 1 146765945 rs3831281 TTAC T 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=517;Gene=CHD1L/NM_001256336.1/0;CC=c.2207-142_2207-140delTAC;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1664-142_1664-140delTAC;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1895-142_1895-140delTAC;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2507-142_2507-140delTAC;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.2168-142_2168-140delTAC;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:TTAC,T:6:6:0:3:3,3:103,91:0.00,8.72:0.00,8.72:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,14.7:0,0:0,0:84,89:67,61:32,26:-,NM_004284.4(CHD1L) c.2507-145_2507-143delTAC:-,0.13:-,NOT_FOUND 1 146766069 rs75717265 C CAT 90 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3108;Gene=CHD1L/NM_001256336.1/0;CC=c.2207-22_2207-21insAT;VC=Intron;Gene=CHD1L/NM_001256337.1/0;CC=c.1664-22_1664-21insAT;VC=Intron;Gene=CHD1L/NM_001256338.1/0;CC=c.1895-22_1895-21insAT;VC=Intron;Gene=CHD1L/NM_004284.4/1;CC=c.2507-22_2507-21insAT;VC=Intron;Gene=CHD1L/NM_024568.2/0;CC=c.2168-22_2168-21insAT;VC=Intron;Gene=CHD1L/NR_046070.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:CAT:25:22:25:0:25:781:90.01:63.09:26.92:1.00:1.00:1.00:60:8.8:0:0:46:103:26:NM_004284.4(CHD1L) c.2507-22_2507-21insAT,NM_004284.4(CHD1L) c.2507-22_2507-21insAT:0.96,0.96:0.954473,0.954473 1 146766200 . G . . NT END=146767111;NT GT ./. 1 146767149 rs4950394 G T 97 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.03195,G/0.9681;PC=0.151;Gene=CHD1L/NM_001256336.1/0;CC=c.2353G>T;ProtCh=p.A785S;VC=Missense;Gene=CHD1L/NM_001256337.1/0;CC=c.1810G>T;ProtCh=p.A604S;VC=Missense;Gene=CHD1L/NM_001256338.1/0;CC=c.2041G>T;ProtCh=p.A681S;VC=Missense;Gene=CHD1L/NM_004284.4/1;CC=c.2653G>T;ProtCh=p.A885S;VC=Missense;Gene=CHD1L/NM_024568.2/0;CC=c.2314G>T;ProtCh=p.A772S;VC=Missense;Gene=CHD1L/NR_046070.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:15:0:0:26:849:97.27:43.33:53.94:1.00:1.00:1.00:60:46.8:0:0:66:84:48:NM_004284.4(CHD1L) c.=,NM_004284.4(CHD1L) c.=:0.97,0.97:0.954559,0.954559 1 146767191 . G . . NT END=147083635;NT GT ./. 1 146791020 rs4950399 A G 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8568,G/0.1432;PC=0.920 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:13:7:0:0:7,6:220,190:0.00,17.97:0.00,9.05:0.00,8.92:0.00,0.97:0.00,0.98:0.00,0.97:60,60:18.0,82.5:0,0:0,0:73,53:78,96:58,29:-,chr1 g.146791019A>G (intergenic):-,0.13:-,NOT_FOUND 1 146791101 rs4950400 C G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8552,G/0.1448;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:C,G:13:11:0:0:7,6:243,167:0.00,15.64:0.00,12.27:0.00,3.37:0.00,0.97:0.00,1.00:0.00,0.76:60,60:2.7,81.7:0,0:0,0:59,105:92,45:29,29:-,chr1 g.146791100C>G (intergenic):-,0.13:-,NOT_FOUND 1 146791289 rs4950401 G A 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8546,A/0.1454;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:11:0:0:10,11:334,374:31.86,0.00:9.25,0.00:22.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,5.9:0,0:0,0:84,102:59,49:17,23:chr1 g.146791288G>A (intergenic),-:0.13,-:NOT_FOUND,- 1 146826018 rs56413966 A AACACAC 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=33;NP=78;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AACACAC:5:5:4:0:2,3:67,127:0.00,9.33:0.00,6.55:0.00,2.77:0.00,0.73:0.00,0.96:0.00,0.89:60,60:0.0,2.3:0,1:0,0:78,31:31,119:37,18:-,chr1 g.146826018_146826019insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147083689 . G . . NT END=147084681;NT GT ./. 1 147084999 . G . . NT END=147086225;NT GT ./. 1 147086416 . G . . NT END=147087602;NT GT ./. 1 147087703 . G . . NT END=147090621;NT GT ./. 1 147087721 rs3737843 T A 116 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.6833,A/0.3167;Gene=BCL9/NM_004326.3/1;CC=c.660+19T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A:30:16:0:0:30:1018:116.08:41.61:74.47:1.00:1.00:1.00:60:37.0:0:0:83:58:27:NM_004326.2(BCL9) c.660+19T>A,NM_004326.2(BCL9) c.660+19T>A:0.37,0.37:0.370368,0.370368 1 147092864 . G . . NT END=147094071;NT GT ./. 1 147094333 . G . . NT END=147095642;NT GT ./. 1 147096761 . G . . NT END=147119224;NT GT ./. 1 147096828 rs946902 C G 170 nt VT=SNV;PN=G;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.03654,C/0.9635;PC=0.801;Gene=BCL9/NM_004326.3/1;CC=c.*68C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:8:0:0:46:1484:170.23:16.04:154.19:1.00:1.00:1.00:60:45.4:0:0:93:57:32:NM_004326.2(BCL9) c.*68C>G,NM_004326.2(BCL9) c.*68C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 147119369 . C . . NT END=147120047;NT GT ./. 1 147120214 . C . . NT END=147121945;NT GT ./. 1 147121977 rs6593795 C T 311 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.01558,C/0.9844;Gene=ACP6/NM_016361.4/1;CC=c.946G>A;ProtCh=p.V316M;VC=Missense;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:82:61:0:0:82:2721:311.16:167.17:143.99:1.00:1.00:1.00:60:38.6:0:0:67:81:26:NM_016361.3(ACP6) c.946G>A (p.Val316Met),NM_016361.3(ACP6) c.946G>A (p.Val316Met):0.99,0.99:0.985468,0.985468 1 147122042 . C . . NT END=147124251;NT GT ./. 1 147124310 rs2153463 T G 476 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=NA;Gene=ACP6/NM_016361.4/1;CC=c.823A>C;ProtCh=p.R275=;VC=Silent;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:130:101:0:0:130:4142:475.97:278.01:197.96:1.00:1.00:1.00:60:35.5:0:0:70:78:28:NM_016361.3(ACP6) c.823A>C (p.(=)),NM_016361.3(ACP6) c.823A>C (p.(=)):0.74,0.74:0.725665,0.725665 1 147124451 . C . . NT END=147126308;NT GT ./. 1 147124556 rs372824445 GA G 32 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=9;PC=0.009;Gene=ACP6/NM_016361.4/1;CC=c.781-205delT;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:27:1:1:18:14,1,12:378,31,521:0.00,1.87,31.72:0.00,-0.01,-0.20:0.00,1.89,31.91:0.00,0.00,1.00:0.00,0.00,0.58:0.00,0.00,1.00:60,60,60:35.3,135.0,70.3:0,0,6:0,0,0:120,103,95:30,46,56:27,0,24:-,NM_016361.3(ACP6) c.781-205delT:-,NOT_FOUND:-,NOT_FOUND 1 147124726 rs9660040 T C 18 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2847,C/0.7153;Gene=ACP6/NM_016361.4/1;CC=c.781-374A>G;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:158:18.18:1.89:16.30:1.00:1.00:1.00:60:40.6:0:0:120:30:22:NM_016361.3(ACP6) c.781-374A>G,NM_016361.3(ACP6) c.781-374A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 147126442 . C . . NT END=147127275;NT GT ./. 1 147127364 . C . . NT END=147131074;NT GT ./. 1 147131155 . C . . NT END=147131510;NT GT ./. 1 147131322 rs11240096 G T 77 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.867,T/0.133;Gene=ACP6/NM_016361.4/1;CC=c.480-168C>A;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:9:0:0:21:670:76.98:32.36:44.62:1.00:1.00:1.00:60:77.3:0:0:98:53:25:NM_016361.3(ACP6) c.480-168C>A,NM_016361.3(ACP6) c.480-168C>A:0.14,0.14:NOT_FOUND,NOT_FOUND 1 147131323 rs11240097 A T 76 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.867,T/0.133;Gene=ACP6/NM_016361.4/1;CC=c.480-169T>A;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:10:0:0:22:652:75.55:35.11:40.44:1.00:1.00:1.00:60:76.9:0:0:98:53:26:NM_016361.3(ACP6) c.480-169T>A,NM_016361.3(ACP6) c.480-169T>A:0.14,0.14:NOT_FOUND,NOT_FOUND 1 147131465 rs6674938 T C 253 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.2987,A/.,C/0.7013;Gene=ACP6/NM_016361.4/1;CC=c.479+46A>G;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:66:62:0:0:66:2212:252.54:206.41:46.14:1.00:1.00:1.00:60:44.7:0:0:51:96:34:NM_016361.3(ACP6) c.479+46A>G,NM_016361.3(ACP6) c.479+46A>G:0.74,0.74:0.718438,0.718438 1 147131642 . C . . NT END=147131761;NT GT ./. 1 147131710 rs3818888 A C 400 nt VT=SNV;PN=A;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.867,C/0.133;PC=0.005;Gene=ACP6/NM_016361.4/1;CC=c.348+52T>G;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:104:66:0:0:104:3507:400.27:204.21:196.06:1.00:1.00:1.00:60:39.4:0:0:69:81:35:NM_016361.3(ACP6) c.348+52T>G,NM_016361.3(ACP6) c.348+52T>G:0.15,0.15:0.090862,0.090862 1 147131891 . C . . NT END=147141951;NT GT ./. 1 147131945 rs2275552 T C 259 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.2997,C/0.7003;Gene=ACP6/NM_016361.4/1;CC=c.220-55A>G;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:A,C:69:23:0:0:1,68:8,2272:0.08,259.15:0.00,64.67:0.08,194.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.0,41.2:0,0:0,0:61,104:90,42:0,32:NM_016361.3(ACP6) c.220-55A>G,NM_016361.3(ACP6) c.220-55A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 147141810 rs2185438 C T 95 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5068,T/0.4932;Gene=ACP6/NM_016361.4/1;CC=c.219+142G>A;VC=Intron;DM=ACP6/His_Phos_2;DM=ACP6/His_Phos_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:27:0:0:27:818:94.66:94.66:0.00:1.00:1.00:0.00:60:44.5:0:0:33:116:20:NM_016361.3(ACP6) c.219+142G>A,NM_016361.3(ACP6) c.219+142G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 147142171 . G . . NT END=147230269;NT GT ./. 1 147142296 rs2883202 T C 58 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.5168,C/0.4832;Gene=ACP6/NM_016361.4/1;CC=c.-126A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:0:0:0:16:502:57.82:0.00:57.82:1.00:0.00:1.00:60:34.8:0:0:118:32:29:NM_016361.3(ACP6) c.-126A>G,NM_016361.3(ACP6) c.-126A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 147230217 rs1692141 T C 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.1196,T/0.8804;Gene=GJA5/NM_181703.3/0;CC=c.*53A>G;VC=3UTR;Gene=GJA5/NM_005266.6/1;CC=c.*53A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:49:47:0:0:14,1,34:414,9,1122:35.50,-0.15,0.00:30.84,-0.12,0.00:4.66,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.92,0.00,0.00:60,60,60:46.6,131.0,4.4:0,0,0:0,0,0:39,45,44:112,106,107:23,0,34:NM_005266.5(GJA5) c.*53A>G,-:0.85,-:NOT_FOUND,- 1 147231347 . C . . NT END=147380082;NT GT ./. 1 147231531 rs1692140 T C 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.03355,T/0.9665;Gene=GJA5/NM_181703.3/0;CC=c.-33-152A>G;VC=Intron;Gene=GJA5/NM_005266.6/1;CC=c.-33-152A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:358:41.47:0.00:41.47:1.00:0.00:1.00:60:39.4:0:0:115:35:27:NM_005266.5(GJA5) c.-33-152A>G,NM_005266.5(GJA5) c.-33-152A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 147284475 rs143615702 T TTG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10;NP=214;NP=4;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:T,TTG:3:3:3:0:1,2:34,96:0.00,6.35:0.00,3.18:0.00,3.17:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,10.5:0,1:0,0:49,50:102,96:0,29:-,chr1 g.147284475_147284476insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147381385 . A . . NT END=147400649;NT GT ./. 1 147381397 rs587649338 G GA 23 idl,rn VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;NP=224;NP=5;NP=94;PC=0.199;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,G,GA,D:56:21:11:5:2,40,10,4:36,1196,319,153:1.25,0.00,22.56,9.13:-0.13,0.00,2.03,6.16:1.39,0.00,20.54,2.97:0.00,0.00,0.99,0.00:0.00,0.00,0.95,0.00:0.00,0.00,1.00,0.00:60,60,60,60:130.0,32.9,40.4,66.8:0,0,1,1:0,0,0,0:45,117,101,96:105,33,42,30:45,20,18,13:-,chr1 g.147381397_147381398insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147381444 rs1532399 A C 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.3624,A/0.6376;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:37:5:0:0:17,20:436,619:0.00,60.38:0.00,8.51:0.00,51.87:0.00,1.00:0.00,0.98:0.00,1.00:60,60:32.6,62.9:0,0:0,0:114,133:36,14:24,12:-,chr1 g.147381443A>C (intergenic):-,0.63:-,NOT_FOUND 1 147381558 rs2132397 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:210:24.34:0.00:24.34:1.00:0.00:1.00:60:63.1:0:0:108:43:18:chr1 g.147381557G>A (intergenic),chr1 g.147381557G>A (intergenic):0.8,0.8:NOT_FOUND,NOT_FOUND 1 147400692 . G . . NT END=147400995;NT GT ./. 1 147401192 . G . . NT END=147408740;NT GT ./. 1 147408801 . G . . NT END=147410827;NT GT ./. 1 147410932 . G . . NT END=147415551;NT GT ./. 1 147415659 . G . . NT END=147416090;NT GT ./. 1 147416213 . G . . NT END=147425576;NT GT ./. 1 147421526 rs587743971 G A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=19;Gene=GPR89B/NM_016334.3/1;CC=c.416-4051G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:5:5:0:0:4,1:112,32:12.00,0.00:12.00,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,23:113.2,116.0:0,0:0,0:105,30:46,120:20,0:NM_016334.3(GPR89B) c.416-4051G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 147425698 . G . . NT END=147426553;NT GT ./. 1 147426635 . G . . NT END=147438785;NT GT ./. 1 147438896 . G . . NT END=147441106;NT GT ./. 1 147441196 . G . . NT END=147442098;NT GT ./. 1 147442192 . G . . NT END=147458430;NT GT ./. 1 147458527 . G . . NT END=147460663;NT GT ./. 1 147460754 . G . . NT END=147464733;NT GT ./. 1 147464800 . G . . NT END=147464942;NT GT ./. 1 147465313 . C . . NT END=147954849;NT GT ./. 1 147532647 rs148186617 C T 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=68 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,T:15:15:0:0:5,10:159,333:0.00,33.92:0.00,33.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:27,27:14.4,93.2:0,0:0,0:65,38:86,112:21,27:-,chr1 g.147532646C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147532652 rs143670728 A C 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=144;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,C,T:16:16:0:0:6,9,1:182,294,12:0.00,29.30,0.40:0.00,29.30,0.40:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:27,27,27:12.0,98.8,43.0:0,0,0:0,0,0:59,39,116:91,112,33:27,22,0:-,chr1 g.147532651A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147532696 rs141092984 C T 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=258;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:12,11:369,380:0.00,36.34:0.00,36.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:27,27:17.2,94.5:0,0:0,0:43,63:107,88:18,29:-,chr1 g.147532695C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147532853 rs372170617 G T 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=164;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:0:0:0:9,11:288,375:0.00,36.77:0.00,0.00:0.00,36.77:0.00,1.00:0.00,0.00:0.00,1.00:27,27:4.9,35.9:0,0:0,0:87,109:64,42:33,7:-,chr1 g.147532852G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147561566 rs76602904 T C 25 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:215:24.84:22.95:1.89:1.00:1.00:1.00:25:32.6:0:0:76:74:18:chr1 g.147561565T>C (intergenic),chr1 g.147561565T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 147561737 . T C 77 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:7:0:0:20:672:76.74:13.82:62.92:1.00:1.00:1.00:41:35.1:0:0:134:17:9:chr1 g.147561736T>C (intergenic),chr1 g.147561736T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 147561786 . G GT 15 rn VT=INS;SST=Single;DP=8;PC=0.002;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:G,GT:8:0:7:0:1,7:31,133:0.00,15.14:0.00,0.00:0.00,15.14:0.00,1.00:0.00,0.00:0.00,1.00:25,25:42.0,38.1:0,0:0,0:147,92:4,59:0,6:-,chr1 g.147561786_147561787insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 147595005 rs200449036 A G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.365;Gene=NBPF11/NM_001101663.4/0;CC=c.566+7T>C;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.728+7T>C;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-18077T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G,T:15:15:0:0:11,3,1:355,104,8:0.00,8.67,-0.03:0.00,8.67,-0.03:0.00,0.00,0.00:0.00,0.55,0.00:0.00,0.55,0.00:0.00,0.00,0.00:40,28,40:5.2,67.3,93.0:0,0,0:0,0,0:61,19,106:89,132,45:32,4,0:-,NM_001101663.2(NBPF24) c.566+7T>C:-,NOT_FOUND:-,NOT_FOUND 1 147597166 . T A 11 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;PC=0.001;Gene=NBPF11/NM_001101663.4/0;CC=c.278+16A>T;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.440+16A>T;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-20238A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,T:35:29:0:0:5,30:146,1049:10.79,0.00:9.43,0.00:1.37,0.00:0.78,0.00:0.96,0.00:0.93,0.00:24,44:55.6,15.2:0,0:0,0:11,65:140,80:6,17:NM_001101663.2(NBPF24) c.278+16A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 147597237 rs200802363 G A 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=NBPF11/NM_001101663.4/0;CC=c.223C>T;ProtCh=p.R75*;VC=Nonsense;Gene=NBPF11/NM_183372.5/1;CC=c.385C>T;ProtCh=p.R129*;VC=Nonsense;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-20309C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:38:27:0:0:15,22,1:456,756,13:41.88,0.00,0.14:19.43,0.00,-0.13:22.45,0.00,0.26:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,42,27:34.3,21.2,13.0:0,0,0:0,0,0:111,80,88:34,69,63:29,34,0:NM_001101663.2(NBPF24) c.223C>T (p.Arg75*),-:NOT_FOUND,-:NOT_FOUND,- 1 147597303 rs201826633 G A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1;PC=0.095;Gene=NBPF11/NM_001101663.4/0;CC=c.176-19C>T;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.338-19C>T;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-20375C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,G:21:13:0:0:6,15:202,513:17.61,0.00:12.50,0.00:5.11,0.00:0.93,0.00:0.97,0.00:0.99,0.00:24,40:33.7,19.5:0,0:0,0:127,81:24,67:10,27:NM_001101663.2(NBPF24) c.176-19C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 147597385 . C G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;Gene=NBPF11/NM_001101663.4/0;CC=c.176-101G>C;VC=Intron;Gene=NBPF11/NM_183372.5/1;CC=c.338-101G>C;VC=Intron;Gene=NBPF11/NR_046188.3/0;VC=NonCoding;Gene=NBPF11/NR_110864.1/0;VC=NonCoding;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-20457G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,G:8:0:0:0:5,3:164,99:0.00,9.03:0.00,0.00:0.00,9.03:0.00,0.67:0.00,0.00:0.00,0.67:27,24:4.8,47.0:0,0:0,0:123,136:27,15:20,2:-,NM_001101663.2(NBPF24) c.176-101G>C:-,NOT_FOUND:-,NOT_FOUND 1 147735597 rs4278404 T C 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.03335,T/0.9667;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-158669A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:9:0:0:16:507:58.33:20.37:37.96:1.00:1.00:1.00:60:34.2:0:0:91:42:21:chr1 g.147735596T>C (intergenic),chr1 g.147735596T>C (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 147789875 rs558833 C T 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1404,C/0.8596;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-212947G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:8:0:0:10:312:35.96:26.72:9.24:1.00:1.00:1.00:60:69.9:0:0:53:97:31:chr1 g.147789874C>T (intergenic),chr1 g.147789874C>T (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 1 147789920 rs558062 G A 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.1452,G/0.8548;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-212992C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:14:0:0:17:536:61.68:39.52:22.16:1.00:1.00:1.00:60:81.0:0:0:33:99:30:chr1 g.147789919G>A (intergenic),chr1 g.147789919G>A (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 147790021 rs557110 G A 58 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.1873,G/0.8127;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-213093C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:9:0:0:17:504:58.44:19.15:39.28:1.00:1.00:1.00:60:79.3:0:0:106:45:15:chr1 g.147790020G>A (intergenic),chr1 g.147790020G>A (intergenic):0.84,0.84:NOT_FOUND,NOT_FOUND 1 147790031 rs557088 G A 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.142,G/0.858;Gene=NBPF8/NM_001037501.2/1;CC=c.2477-213103C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:6:0:0:15:530:60.15:14.07:46.09:1.00:1.00:1.00:60:73.3:0:0:93:56:15:chr1 g.147790030G>A (intergenic),chr1 g.147790030G>A (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 147807277 rs481176 A G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3375,A/0.6625;PC=0.006;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+198949T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:103:12.18:0.00:12.18:1.00:0.00:1.00:60:39.8:0:0:27:122:15:NR_049810.1(MIR5087) n.-599T>C,NR_049810.1(MIR5087) n.-599T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 147851865 rs139448148 G A 15 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=134;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+154361C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:134:15.31:1.94:13.37:1.00:1.00:1.00:54:84.0:0:0:90:53:17:chr1 g.147851864G>A (intergenic),chr1 g.147851864G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 147931913 . G A 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;NP=2;PC=1.000;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+74313C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:8:0:0:10:311:35.87:25.84:10.03:1.00:1.00:1.00:60:58.0:0:0:52:97:27:NR_027468.1(FLJ39739) n.68C>T,NR_027468.1(FLJ39739) n.68C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 147955124 . C T 16 lc VT=SNV;PN=A;NN=C;SST=Single;DP=37;NP=1;PC=0.997;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+51102G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=PPIAL4C/NM_001135789.3/1;CC=c.221G>A;ProtCh=p.G74D;VC=Missense;Gene=PPIAL4A/NM_001143883.2/1;CC=c.221G>A;ProtCh=p.G74D;VC=Missense;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,T:37:36:0:0:31,6:1032,203:0.00,16.04:0.00,16.12:0.00,-0.08:0.00,0.88:0.00,0.99:0.00,0.44:40,25:5.6,106.3:0,0:0,0:81,46:70,104:39,6:-,NM_178230.1(PPIAL4A) c.221G>A (p.Gly74Asp):-,NOT_FOUND:-,NOT_FOUND 1 147955126 rs367921294 A G 18 lc VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7929,A/0.2071;NP=2;PC=0.996;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+51100T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=PPIAL4C/NM_001135789.3/1;CC=c.219T>C;ProtCh=p.T73=;VC=Silent;Gene=PPIAL4A/NM_001143883.2/1;CC=c.219T>C;ProtCh=p.T73=;VC=Silent;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,G:36:35:0:0:29,7:941,224:0.00,18.04:0.00,18.14:0.00,-0.09:0.00,0.94:0.00,1.00:0.00,0.46:40,25:3.7,100.7:0,0:0,0:83,47:68,103:39,7:-,NM_178230.1(PPIAL4A) c.219T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 147955136 rs372484895 T G 20 lc VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.8902,T/0.1098;NP=3;PC=1.000;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+51090A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=PPIAL4C/NM_001135789.3/1;CC=c.209A>C;ProtCh=p.H70P;VC=Missense;Gene=PPIAL4A/NM_001143883.2/1;CC=c.209A>C;ProtCh=p.H70P;VC=Missense;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:G,T:43:42:0:0:7,36:247,1140:19.75,0.00:19.82,0.00:-0.08,0.00:0.94,0.00:1.00,0.00:0.44,0.00:25,40:100.7,3.3:0,0:0,0:57,67:93,84:7,42:NM_178230.1(PPIAL4A) c.209A>C (p.His70Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 147955246 rs202020039 C T 52 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=T/0.653,A/.,C/0.347;PC=0.999;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+50980G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=PPIAL4C/NM_001135789.3/1;CC=c.99G>A;ProtCh=p.A33=;VC=Silent;Gene=PPIAL4A/NM_001143883.2/1;CC=c.99G>A;ProtCh=p.A33=;VC=Silent;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:112:105:0:0:93,19:2811,653:0.00,52.25:0.00,53.20:0.00,-0.95:0.00,1.00:0.00,1.00:0.00,0.91:40,24:4.9,87.0:0,0:0,0:59,40:92,111:30,12:-,NM_178230.1(PPIAL4A) c.99G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 147955256 rs199950315 A G 47 sb,lc VT=SNV;PN=T;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=G/0.5335,A/0.4665;PC=0.096;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+50970T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=PPIAL4C/NM_001135789.3/1;CC=c.89T>C;ProtCh=p.L30P;VC=Missense;Gene=PPIAL4A/NM_001143883.2/1;CC=c.89T>C;ProtCh=p.L30P;VC=Missense;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:124:112:0:0:105,1,18:3292,13,608:0.00,-0.21,47.21:0.00,-0.14,48.57:0.00,-0.07,-1.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:41,24,24:6.6,72.0,87.8:0,0,0:0,0,0:47,116,48:104,35,102:30,0,11:-,NM_178230.1(PPIAL4A) c.89T>C (p.Leu30Pro):-,NOT_FOUND:-,NOT_FOUND 1 147955345 . G . . NT END=148004547;NT GT ./. 1 147955368 rs76383089 T C 71 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=191;DB;DBA=NA;PAF=C/0.6705,A/.,T/0.3295;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+50858A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=PPIAL4C/NM_001135789.3/1;CC=c.-24A>G;VC=5UTR;Gene=PPIAL4A/NM_001143883.2/1;CC=c.-24A>G;VC=5UTR;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:191:101:0:0:27,164:914,5427:70.50,0.00:76.50,0.00:-6.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:25,60:80.3,6.7:0,0:0,0:78,78:73,71:20,29:NM_178230.1(PPIAL4A) c.-24A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 147955378 rs201998677 A G 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=191;DB;DBA=NA;PAF=G/0.7284,A/0.2716;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+50848T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=PPIAL4C/NM_001135789.3/1;CC=c.-34T>C;VC=5UTR;Gene=PPIAL4A/NM_001143883.2/1;CC=c.-34T>C;VC=5UTR;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:191:89:0:0:162,29:5258,781:0.00,56.86:0.00,53.24:0.00,3.62:0.00,1.00:0.00,1.00:0.00,1.00:60,24:6.6,69.3:0,0:0,0:88,70:57,81:27,19:-,NM_178230.1(PPIAL4A) c.-34T>C:-,NOT_FOUND:-,NOT_FOUND 1 148000308 rs505554 A G 47 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+5918T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:26:0:0:12,17:388,477:0.00,47.19:0.00,49.29:0.00,-2.11:0.00,1.00:0.00,1.00:0.00,1.00:60,25:13.1,33.4:0,0:0,0:57,57:93,94:28,15:-,chr1 g.148000307A>G (intergenic):-,0.1:-,NOT_FOUND 1 148000459 rs9329546 T G 80 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=151;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+5767A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:33:15:0:0:24,9:766,292:79.60,0.00:15.98,0.00:63.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,55:45.0,10.2:0,0:0,0:127,89:22,62:9,35:chr1 g.148000458T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148000579 rs61810179 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=51;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+5647G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:9:1:0:0:5,4:161,124:0.00,11.62:0.00,-0.26:0.00,11.88:0.00,0.85:0.00,0.63:0.00,0.98:59,24:6.8,66.2:0,0:0,0:93,125:58,25:30,11:-,chr1 g.148000578C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148004472 . G A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;NP=199;PC=0.010;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1754C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:24:0:0:8,17:257,539:22.72,0.00:20.09,0.00:2.63,0.00:0.99,0.00:1.00,0.00:0.91,0.00:40,60:86.2,9.2:0,0:0,0:18,43:132,102:12,28:NM_015383.1(NBPF14) c.*76C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148004475 rs367648584 C G 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8676,C/0.1324;NP=1431;PC=0.026;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1751G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:24:0:0:16,10:548,337:0.00,30.95:0.00,23.57:0.00,7.38:0.00,1.00:0.00,1.00:0.00,0.97:60,50:5.1,75.1:0,0:0,0:44,14:101,129:29,11:-,NM_015383.1(NBPF14) c.*73G>C:-,NOT_FOUND:-,NOT_FOUND 1 148004567 rs79517418 C A 11 lc VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.9199,A/.,T/0.08007;PC=0.961;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1659G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:A,C:53:45:0:0:5,48:159,1605:11.10,0.00:9.34,0.00:1.76,0.00:0.71,0.00:0.95,0.00:0.88,0.00:40,60:160.8,20.0:0,0:0,0:45,79:106,64:40,24:NM_015383.1(NBPF14) c.2747G>T (p.Gly916Val),-:NOT_FOUND,-:NOT_FOUND,- 1 148004568 rs78765201 C A 10 lc VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.9199,T/0.08007;PC=0.961;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1658G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C:53:45:0:0:5,48:146,1559:9.85,0.00:7.92,0.00:1.94,0.00:0.71,0.00:0.95,0.00:0.88,0.00:40,60:160.8,16.1:0,0:0,0:46,78:105,64:40,26:NM_015383.1(NBPF14) c.2746G>T (p.Gly916*),-:NOT_FOUND,-:NOT_FOUND,- 1 148004584 rs78822109 G A 15 lc VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.977;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1642C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:56:42:0:0:7,49:209,1571:15.09,0.00:8.35,0.00:6.74,0.00:0.91,0.00:0.98,0.00:0.97,0.00:40,60:99.1,21.3:0,0:0,0:21,90:130,56:11,31:NM_015383.1(NBPF14) c.2730C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 148004625 rs144324257 C A 14 lc VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.382;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1601G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,C:51:36:0:0:6,45:188,1430:13.73,0.00:3.89,0.00:9.84,0.00:0.99,0.00:0.96,0.00:0.94,0.00:43,60:96.0,20.5:0,0:0,0:40,103:96,48:18,32:NM_015383.1(NBPF14) c.2689G>T (p.Val897Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 148004644 rs199511253 A G 17 lc VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.245;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1582T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,G:53:36:0:0:46,7:1419,224:0.00,16.78:0.00,3.46:0.00,13.32:0.00,0.92:0.00,0.97:0.00,0.94:59,40:24.0,69.9:0,0:0,0:55,98:85,51:36,28:-,NM_015383.1(NBPF14) c.2670T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 148004649 rs201407717 C G 15 lc VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=710;PC=0.820;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1577G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,G:54:36:0:0:48,6:1592,201:0.00,14.79:0.00,1.59:0.00,13.20:0.00,0.84:0.00,0.61:0.00,0.90:59,40:26.8,77.5:0,0:0,0:57,103:86,46:34,23:-,NM_015383.1(NBPF14) c.2665G>C (p.Glu889Gln):-,NOT_FOUND:-,NOT_FOUND 1 148004732 rs77570381 A C 9 lc VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.8227,A/.,C/.,G/0.1773;NP=2160;PC=0.673;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1494T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,C:50:35:0:0:46,4:1431,130:0.00,8.87:0.00,4.31:0.00,4.56:0.00,0.55:0.00,0.85:0.00,0.79:60,37:9.0,122.5:0,0:0,0:61,123:88,15:42,12:-,NM_015383.1(NBPF14) c.2582T>G (p.Ile861Arg):-,NOT_FOUND:-,NOT_FOUND 1 148004792 . C . . NT END=148005402;NT GT ./. 1 148004954 . A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;NP=109;PC=0.033;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1272T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G:33:10:0:0:29,4:951,125:0.00,9.12:0.00,6.27:0.00,2.85:0.00,0.62:0.00,0.66:0.00,0.91:60,52:26.6,108.0:0,0:0,0:34,15:116,115:29,7:-,NM_015383.1(NBPF14) c.2523-163T>C:-,NOT_FOUND:-,NOT_FOUND 1 148004986 rs61810199 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=202;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1240G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:34:11:0:0:30,4:914,141:0.00,10.66:0.00,5.77:0.00,4.90:0.00,0.62:0.00,0.68:0.00,0.91:57,52:32.5,108.5:0,0:0,0:47,47:103,83:20,7:-,NM_015383.1(NBPF14) c.2523-195G>C:-,NOT_FOUND:-,NOT_FOUND 1 148005034 rs61810200 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=285;PC=0.017;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1192T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G:30:9:0:0:26,4:816,137:0.00,10.50:0.00,2.86:0.00,7.64:0.00,0.64:0.00,0.67:0.00,0.93:57,52:34.1,92.5:0,0:0,0:90,88:59,63:16,6:-,NM_015383.1(NBPF14) c.2523-243T>C:-,NOT_FOUND:-,NOT_FOUND 1 148005046 . A G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;NP=8;PC=0.006;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1180T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,G:27:7:0:0:24,3:731,107:0.00,8.04:0.00,1.31:0.00,6.74:0.00,0.44:0.00,0.53:0.00,0.88:55,37:35.5,90.7:0,0:0,0:101,93:50,58:11,27:-,NM_015383.1(NBPF14) c.2523-255T>C:-,NOT_FOUND:-,NOT_FOUND 1 148005064 rs145175428 C A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=494;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1162G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,C:26:7:0:0:5,21:163,697:13.16,0.00:1.21,0.00:11.95,0.00:0.82,0.00:0.74,0.00:0.98,0.00:40,55:72.0,32.1:0,0:0,0:115,115:36,36:24,10:NM_015383.1(NBPF14) c.2523-273G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148005065 . A C 16 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;NP=125;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+1161T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:A,C:26:7:0:0:20,6:650,188:0.00,15.56:0.00,-0.51:0.00,16.08:0.00,0.91:0.00,0.81:0.00,0.99:55,16:39.6,41.3:0,0:0,0:116,121:35,28:12,7:-,NM_015383.1(NBPF14) c.2523-274T>G:-,NOT_FOUND:-,NOT_FOUND 1 148005251 . A G 12 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;PC=0.925;Gene=NBPF8/NM_001037501.2/1;CC=c.2476+975T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,G:39:38:0:0:34,5:1077,163:0.00,12.20:0.00,12.35:0.00,-0.15:0.00,0.77:0.00,0.98:0.00,0.43:40,13:11.4,49.0:0,0:0,0:80,12:70,139:27,4:-,NM_015383.1(NBPF14) c.2522+152T>C:-,NOT_FOUND:-,NOT_FOUND 1 148005512 . C . . NT END=148006225;NT GT ./. 1 148006259 rs200975235 C T 36 mq,lc VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=3;PC=0.948;Gene=NBPF8/NM_001037501.2/1;CC=c.2443G>A;ProtCh=p.E815K;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:1:0:0:14,12:423,376:0.00,35.52:0.00,-0.27:0.00,35.78:0.00,1.00:0.00,0.64:0.00,1.00:18,18:5.0,37.4:0,0:0,0:68,66:82,84:35,24:-,NM_015383.1(NBPF14) c.2380G>A (p.Glu794Lys):-,NOT_FOUND:-,NOT_FOUND 1 148006399 . C . . NT END=148007038;NT GT ./. 1 148006621 rs141222110 G C 10 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3904,C/0.6096;NP=243;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.2304-223C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,G:7:2:0:0:3,4:105,129:9.86,0.00:-0.24,0.00:10.10,0.00:0.69,0.00:0.73,0.00:0.69,0.00:14,52:58.3,29.8:0,0:0,0:138,133:13,10:2,6:NM_015383.1(NBPF14) c.2241-223C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148007091 . C . . NT END=148007799;NT GT ./. 1 148007973 . C . . NT END=148008572;NT GT ./. 1 148008380 rs61810205 A T 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=140;Gene=NBPF8/NM_001037501.2/1;CC=c.2079-408T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,T:19:17:0:0:13,6:399,193:0.00,17.03:0.00,17.43:0.00,-0.40:0.00,0.94:0.00,0.99:0.00,0.70:52,27:11.3,42.0:0,0:0,0:33,37:117,113:25,18:-,NM_015383.1(NBPF14) c.2015+193T>A:-,NOT_FOUND:-,NOT_FOUND 1 148008547 rs61810206 C A 30 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=156;DB;DBA=NA;PAF=NA;NP=1090;PC=0.258;Gene=NBPF8/NM_001037501.2/1;CC=c.2079-575G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,C,G:156:133:0:0:14,141,1:442,4767,10:30.48,0.00,-0.31:31.07,0.00,-0.18:-0.59,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:40,60,40:50.4,7.4,70.0:0,0,0:0,0,0:35,52,88:116,96,63:29,25,0:NM_015383.1(NBPF14) c.2015+26G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148008625 . C . . NT END=148009343;NT GT ./. 1 148009055 rs61810207 C A 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=305;PC=0.057;Gene=NBPF8/NM_001037501.2/1;CC=c.2078+1058G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:35:32:0:0:26,9:760,291:79.58,0.00:69.69,0.00:9.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:56.8,19.9:0,0:0,0:43,58:106,92:28,16:NM_015383.1(NBPF14) c.1963+289G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148009141 . A G 42 nt VT=SNV;PN=G;NN=C;SST=Single;DP=73;NP=649;PC=0.017;Gene=NBPF8/NM_001037501.2/1;CC=c.2078+972T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:69:0:0:56,17:1737,506:0.00,41.52:0.00,37.49:0.00,4.03:0.00,1.00:0.00,1.00:0.00,0.84:60,60:23.7,56.9:0,0:0,0:54,41:97,109:36,24:-,NM_015383.1(NBPF14) c.1963+203T>C:-,NOT_FOUND:-,NOT_FOUND 1 148009152 . C A 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=77;NP=3;NP=9;PC=0.005;Gene=NBPF8/NM_001037501.2/1;CC=c.2078+961G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:77:73:0:0:16,61:483,1998:38.87,0.00:39.48,0.00:-0.61,0.00:1.00,0.00:1.00,0.00:0.80,0.00:59,60:35.1,29.7:0,0:0,0:28,63:123,88:19,35:NM_015383.1(NBPF14) c.1963+192G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148009349 rs141981140 A G 179 lc VT=SNV;PN=C;NN=T;SST=Single;DP=369;DB;DBA=NA;PAF=NA;PC=0.597;Gene=NBPF8/NM_001037501.2/1;CC=c.2078+764T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:369:302:0:0:296,73:9533,2233:0.00,178.56:0.00,126.30:0.00,52.25:0.00,1.00:0.00,1.00:0.00,1.00:58,57:7.5,38.6:0,0:0,0:52,46:98,103:31,37:-,NM_015383.1(NBPF14) c.1958T>C (p.Met653Thr):-,NOT_FOUND:-,0.147265 1 148009510 rs587690666 G A 125 lc VT=SNV;PN=C;NN=C;SST=Single;DP=416;DB;DBA=NA;PAF=NA;NP=2593;PC=0.993;Gene=NBPF8/NM_001037501.2/1;CC=c.2078+603C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:416:207:0:0:56,1,357,2:1694,10,11493,21:125.20,-0.29,0.00,-0.66:33.47,-0.10,0.00,-0.19:91.72,-0.18,0.00,-0.46:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:34.0,10.0,10.2,66.0:0,0,0,0:0,0,0,0:83,20,78,40:48,129,67,109:28,0,28,11:NM_015383.1(NBPF14) c.1797C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 148009517 . C . . NT END=148010112;NT GT ./. 1 148009715 rs369674743 G GGA 59 rn VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=80;PC=0.003;Gene=NBPF8/NM_001037501.2/1;CC=c.2078+397_2078+398insTC;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGA:63:14:21:0:42,21:1225,663:0.00,58.93:0.00,15.28:0.00,43.66:0.00,1.00:0.00,0.99:0.00,1.00:60,60:30.5,15.4:0,0:0,0:111,82:36,68:23,23:-,NM_015383.1(NBPF14) c.1791-200_1791-199insTC:-,NOT_FOUND:-,NOT_FOUND 1 148009846 rs11289391 CA C 42 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=320;PC=0.111;Gene=NBPF8/NM_001037501.2/1;CC=c.2078+266delT;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:35:21:0:17:18,17:585,442:0.00,41.75:0.00,21.56:0.00,20.19:0.00,1.00:0.00,1.00:0.00,1.00:40,40:28.6,5.4:0,0:0,0:97,52:54,81:31,42:-,NM_015383.1(NBPF14) c.1790+266delT:-,NOT_FOUND:-,NOT_FOUND 1 148010165 . C . . NT END=148010883;NT GT ./. 1 148010217 rs368282400 A G 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=1548;PC=0.999;Gene=NBPF8/NM_001037501.2/1;CC=c.2027-53T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:85:3:0:0:67,18:2067,601:0.00,49.65:0.00,-0.31:0.00,49.96:0.00,1.00:0.00,0.55:0.00,1.00:40,40:7.7,34.4:0,0:0,0:90,113:61,37:34,26:-,NM_015383.1(NBPF14) c.1739-53T>C:-,NOT_FOUND:-,NOT_FOUND 1 148010456 rs61810209 G A 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=3;PC=0.216;Gene=NBPF8/NM_001037501.2/1;CC=c.2027-292C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:19:0:0:18,9:559,297:56.99,0.00:54.98,0.00:2.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:51.2,24.1:0,0:0,0:28,69:121,82:16,34:NM_015383.1(NBPF14) c.1739-292C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148010625 . C G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=106;PC=0.050;Gene=NBPF8/NM_001037501.2/1;CC=c.2026+259G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,C,G,T:106:103:0:0:1,93,11,1:9,3067,331,8:-0.29,0.00,23.19,-0.31:-0.28,0.00,23.38,-0.29:-0.02,0.00,-0.19,-0.02:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.41,0.00:17,40,40,16:103.0,53.4,75.5,83.0:0,0,0,0:0,0,0,0:131,39,60,61:20,111,91,90:0,28,55,0:-,NM_015383.1(NBPF14) c.1738+259G>C:-,NOT_FOUND:-,NOT_FOUND 1 148010638 rs200415638 A G 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=21;PC=0.007;Gene=NBPF8/NM_001037501.2/1;CC=c.2026+246T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,C,G:127:123:0:0:112,2,13:3359,67,419:0.00,3.29,30.01:0.00,3.32,30.22:0.00,-0.03,-0.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.41:40,16,25:47.8,137.5,139.1:0,0,0:0,0,0:42,53,33:109,98,118:28,37,21:-,NM_015383.1(NBPF14) c.1738+246T>C:-,NOT_FOUND:-,NOT_FOUND 1 148010661 rs201687121 T C 341 nt VT=SNV;PN=G;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=NA;NP=89;PC=0.050;Gene=NBPF8/NM_001037501.2/1;CC=c.2026+223A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:155:153:0:0:2,104,1,48:21,3332,20,1392:0.01,341.42,0.32,0.00:0.02,338.64,0.32,0.00:-0.01,2.78,-0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.97,0.00,0.00:40,40,16,40:140.0,85.3,63.0,11.3:0,0,0,0:0,0,0,0:27,37,75,65:120,113,75,85:18,20,0,36:NM_015383.1(NBPF14) c.1738+223A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148010687 rs71244858 A G 118 nt VT=SNV;PN=G;NN=A;SST=Single;DP=203;DB;DBA=NA;PAF=NA;NP=31;PC=0.152;Gene=NBPF8/NM_001037501.2/1;CC=c.2026+197T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:203:197:0:0:157,44,2:4799,1424,19:0.00,117.58,-0.50:0.00,114.70,-0.48:0.00,2.88,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.74,0.00:40,40,40:48.4,109.0,179.5:0,0,0:0,0,0:55,33,43:95,116,104:30,16,29:-,NM_015383.1(NBPF14) c.1738+197T>C:-,NOT_FOUND:-,NOT_FOUND 1 148010726 rs200194862 T G 715 nt VT=SNV;PN=T;NN=C;SST=Single;DP=312;DB;DBA=NA;PAF=NA;NP=137;PC=0.531;Gene=NBPF8/NM_001037501.2/1;CC=c.2026+158A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:312:304:0:0:1,216,95:13,6958,2846:-0.06,715.47,0.00:-0.05,697.62,0.00:-0.00,17.85,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,40:44.0,65.9,19.7:0,0,0:0,0,0:8,53,53:142,98,98:0,33,37:NM_015383.1(NBPF14) c.1738+158A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148010911 rs61810210 G A 6358 lc VT=SNV;PN=C;NN=C;SST=Single;DP=2656;DB;DBA=NA;PAF=NA;NP=1361;PC=0.981;Gene=NBPF8/NM_001037501.2/1;CC=c.1999C>T;ProtCh=p.R667C;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:2656:2213:0:0:1899,5,750,2:61374,59,22855,46:6358.00,-0.47,0.00,0.71:4696.95,-0.42,0.00,0.78:1661.05,-0.04,0.00,-0.07:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,16,56,16:40.9,52.2,26.7,69.0:0,0,0,0:0,0,0,0:56,82,51,68:92,68,99,79:28,25,28,23:NM_015383.1(NBPF14) c.1711C>T (p.Arg571Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 148011057 . C . . NT END=148011679;NT GT ./. 1 148011106 rs201955281 A G 1622 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=1177;DB;DBA=NA;PAF=NA;NP=789;PC=0.371;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-50T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1177:139:0:0:650,4,521,2:19680,46,17226,21:0.00,-0.65,1621.74,-0.51:0.00,-0.05,-18.40,-0.08:0.00,-0.59,1640.14,-0.43:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,40,40,16:18.2,60.8,45.4,47.5:0,0,0,0:0,0,0,0:112,117,125,122:38,29,25,28:22,19,12,20:-,NM_015383.1(NBPF14) c.1566-50T>C:-,NOT_FOUND:-,NOT_FOUND 1 148011136 rs148901736 G GT 204 sb,nt VT=INS;SST=Single;DP=636;DB;DBA=NA;PAF=NA;NP=25;PC=0.009;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-81dupA;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GT:636:100:187:0:24,422,3,187:693,13185,76,2793:40.25,0.00,2.12,204.50:0.19,0.00,-0.14,-7.38:40.06,0.00,2.26,211.88:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,53,40,49:77.0,20.0,147.7,40.5:0,1,3,0:0,0,0,0:142,110,115,137:9,39,32,14:5,29,1,4:-,NM_015383.1(NBPF14) c.1566-81_1566-80insA:-,NOT_FOUND:-,NOT_FOUND 1 148011155 rs2142808 T G 69 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=359;DB;DBA=NA;PAF=NA;NP=727;PC=0.049;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-99A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:359:57:0:0:4,36,319:41,1020,9223:-1.05,68.94,0.00:-0.18,-1.74,0.00:-0.87,70.68,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:56,40,60:68.8,74.6,16.9:0,0,0:0,0,0:13,138,114:133,10,36:13,12,22:NM_015383.1(NBPF14) c.1566-99A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148011200 rs61810211 T G 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=193;DB;DBA=NA;PAF=NA;NP=306;PC=0.194;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-144A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:193:14:0:0:1,32,160:11,1015,5118:-0.28,79.22,0.00:-0.02,0.90,0.00:-0.26,78.32,0.00:0.00,1.00,0.00:0.00,0.86,0.00:0.00,1.00,0.00:56,51,60:190.0,40.4,25.8:0,0,0:0,0,0:54,126,104:97,25,45:0,14,32:NM_015383.1(NBPF14) c.1566-144A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148011789 . C . . NT END=148012502;NT GT ./. 1 148012280 rs80112025 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=297;PC=0.015;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-1224C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:20:0:0:7,14:211,363:18.64,0.00:15.34,0.00:3.30,0.00:0.97,0.00:1.00,0.00:0.56,0.00:40,43:38.3,14.9:0,0:0,0:81,52:67,98:20,26:NM_015383.1(NBPF14) c.1456+223C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148012676 . C . . NT END=148013319;NT GT ./. 1 148012821 . G T 16 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;NP=4;PC=0.482;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-1765C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:G,T:70:9:0:0:62,8:1763,225:0.00,15.61:0.00,-0.34:0.00,15.95:0.00,0.94:0.00,0.61:0.00,1.00:60,7:43.7,107.2:0,0:0,0:59,48:89,89:20,4:-,NM_015383.1(NBPF14) c.1284-146C>A:-,NOT_FOUND:-,NOT_FOUND 1 148012902 rs61810214 C G 34 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=460;PC=0.100;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-1846G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,D:61:11:0:12:43,12,6:1392,411,245:0.00,34.18,11.39:0.00,-0.34,4.17:0.00,34.53,7.22:0.00,1.00,0.00:0.00,0.83,0.00:0.00,1.00,0.00:60,40,60:62.6,69.0,101.0:0,1,6:0,0,0:127,132,69:16,13,72:7,6,9:-,NM_015383.1(NBPF14) c.1284-227G>C:-,NOT_FOUND:-,NOT_FOUND 1 148012904 rs139159915 G C 23 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=294;PC=0.076;Gene=NBPF8/NM_001037501.2/1;CC=c.1854-1848C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:55:6:0:12:10,45:299,1469:23.38,0.00:-0.35,0.00:23.73,0.00:0.99,0.00:0.67,0.00:1.00,0.00:55,60:72.6,64.7:0,1:0,0:128,131:19,10:6,8:NM_015383.1(NBPF14) c.1284-229C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148013372 . C . . NT END=148014080;NT GT ./. 1 148014254 . C . . NT END=148014853;NT GT ./. 1 148014675 rs200621937 A T 12 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.255;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1734T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C,T:59:43:0:0:50,1,8:1615,12,179:0.00,-0.13,11.77:0.00,-0.25,12.84:0.00,0.11,-1.07:0.00,0.00,0.95:0.00,0.00,0.99:0.00,0.00,0.88:42,40,17:22.7,139.0,109.4:0,0,0:0,0,0:37,141,41:112,7,109:20,0,9:-,NM_015383.1(NBPF14) c.1058+179T>A:-,NOT_FOUND:-,NOT_FOUND 1 148014711 rs199832458 C T 56 sb;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.068;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1698G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:59:47:0:0:1,40,18:11,1213,628:-0.10,0.00,55.81:-0.00,0.00,57.85:-0.10,0.00,-2.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:17,42,18:33.0,7.4,86.6:0,0,0:0,0,0:56,63,74:95,88,76:0,18,12:-,NM_015383.1(NBPF14) c.1058+143G>A:-,NOT_FOUND:-,NOT_FOUND 1 148014730 rs201705350 A C 40 sb;mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=3;PC=0.212;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1679T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:53:44:0:0:35,17,1:1147,459,5:0.00,39.71,-0.25:0.00,41.30,-0.17:0.00,-1.59,-0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.96,0.00:42,17,4:6.4,83.1,142.0:0,0,0:0,0,0:78,90,94:73,61,57:14,12,0:-,NM_015383.1(NBPF14) c.1058+124T>G:-,NOT_FOUND:-,NOT_FOUND 1 148014906 . C . . NT END=148015624;NT GT ./. 1 148014932 rs199818708 C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.055;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1477G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,T:24:3:0:0:19,5:577,105:0.00,7.59:0.00,-0.30:0.00,7.90:0.00,0.83:0.00,0.54:0.00,0.98:40,31:19.4,79.8:0,0:0,0:98,124:52,27:39,23:-,NM_015383.1(NBPF14) c.1007-27G>A:-,NOT_FOUND:-,NOT_FOUND 1 148014937 rs201409965 T G 13 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.122;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1472A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:G,T:24:3:0:0:5,19:160,563:13.05,0.00:-0.30,0.00:13.36,0.00:0.83,0.00:0.54,0.00:0.98,0.00:17,40:60.2,28.2:0,0:0,0:26,103:125,47:24,33:NM_015383.1(NBPF14) c.1007-32A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148014988 rs200934023 G A 38 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=2;PC=0.154;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1421C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:3:0:0:12,13:401,354:38.32,0.00:-0.85,0.00:39.17,0.00:1.00,0.00:0.87,0.00:1.00,0.00:16,40:50.8,34.9:0,0:0,0:35,67:115,84:17,17:NM_015383.1(NBPF14) c.1007-83C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148015209 rs28740788 T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;PC=0.039;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1200A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:6:3:0:0:3,3:105,99:10.13,0.00:11.03,0.00:-0.90,0.00:0.73,0.00:0.89,0.00:0.89,0.00:20,20:124.3,20.3:0,0:0,0:10,87:141,63:6,8:NM_015383.1(NBPF14) c.1007-304A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148015215 rs28675902 G A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.072;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1194C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:6:3:0:0:3,3:98,98:9.42,0.00:10.33,0.00:-0.90,0.00:0.73,0.00:0.89,0.00:0.89,0.00:20,20:124.3,81.3:0,0:0,0:16,85:135,66:6,8:NM_015383.1(NBPF14) c.1007-310C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148015284 rs139907841 G C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=557;PC=0.008;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+1125C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,G:10:8:0:0:3,7:104,208:9.18,0.00:9.49,0.00:-0.31,0.00:0.62,0.00:0.92,0.00:0.59,0.00:20,42:124.3,34.7:0,0:0,0:85,35:66,114:6,4:NM_015383.1(NBPF14) c.1006+341C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148015634 rs200156420 T G 273 lc VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=23;NP=40;PC=0.403;Gene=NBPF8/NM_001037501.2/1;CC=c.1853+775A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:C,G,T:75:58:0:0:1,73,1:36,2405,28:2.19,272.76,0.00:-0.01,205.52,0.00:2.19,67.24,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:15,40,40:70.0,39.2,55.0:0,0,0:0,0,0:35,46,46:114,105,105:0,32,0:NM_015383.1(NBPF14) c.997A>C (p.Asn333His),NM_015383.1(NBPF14) c.997A>C (p.Asn333His):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148015798 . C . . NT END=148016408;NT GT ./. 1 148016461 . C . . NT END=148017501;NT GT ./. 1 148017256 rs4067359 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=258;PC=0.022;Gene=NBPF8/NM_001037501.2/1;CC=c.1801+246C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:10:10:0:0:4,6:106,178:9.57,0.00:9.57,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:24,24:95.5,13.0:0,0:0,0:61,67:90,84:17,15:NM_015383.1(NBPF14) c.781+246C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148017283 rs200966110 G A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=192;PC=0.022;Gene=NBPF8/NM_001037501.2/1;CC=c.1801+219C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:12:12:0:0:5,7:129,215:11.73,0.00:11.73,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:22,27:89.8,31.9:0,0:0,0:90,75:61,73:25,21:NM_015383.1(NBPF14) c.781+219C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148017292 rs200788020 C G 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=6;NP=70;PC=0.094;Gene=NBPF8/NM_001037501.2/1;CC=c.1801+210G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,C,G:12:12:0:0:1,7,4:11,225,127:0.32,0.00,11.47:0.32,0.00,11.47:0.00,0.00,0.00:0.00,0.00,0.80:0.00,0.00,0.80:0.00,0.00,0.00:22,24,27:190.0,37.0,55.8:0,0,0:0,0,0:124,84,64:26,64,86:0,23,33:-,NM_015383.1(NBPF14) c.781+210G>C:-,NOT_FOUND:-,NOT_FOUND 1 148017629 rs79250984 C T 57 lc VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=883;PC=0.994;Gene=NBPF8/NM_001037501.2/1;CC=c.1674G>A;ProtCh=p.Q558=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:40:0:0:57,20:1863,662:0.00,56.60:0.00,8.98:0.00,47.61:0.00,1.00:0.00,1.00:0.00,1.00:51,42:9.3,40.0:0,0:0,0:85,100:64,49:34,17:-,NM_015383.1(NBPF14) c.654G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 148017666 . C . . NT END=148021576;NT GT ./. 1 148017693 rs202238988 C T 13 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.991;Gene=NBPF8/NM_001037501.2/1;CC=c.1638-28G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:43:16:0:0:36,7:1201,182:0.00,13.31:0.00,-0.81:0.00,14.12:0.00,0.94:0.00,0.89:0.00,0.99:60,31:4.5,84.1:0,0:0,0:93,146:42,5:22,2:-,NM_015383.1(NBPF14) c.618-28G>A:-,NOT_FOUND:-,NOT_FOUND 1 148021629 . C . . NT END=148022926;NT GT ./. 1 148021700 rs200152760 G A 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1362;PC=0.941;Gene=NBPF8/NM_001037501.2/1;CC=c.1586-72C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:6:0:0:9,7:275,207:27.00,0.00:2.55,0.00:24.45,0.00:1.00,0.00:0.99,0.00:1.00,0.00:24,40:50.0,15.1:0,0:0,0:53,124:98,17:12,5:NM_015383.1(NBPF14) c.566-72C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148022931 rs9441419 A G 31 lc VT=SNV;PN=G;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=NA;PC=0.983;Gene=NBPF8/NM_001037501.2/1;CC=c.1581T>C;ProtCh=p.I527=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:91:0:0:84,14:2670,420:0.00,31.24:0.00,32.08:0.00,-0.84:0.00,1.00:0.00,1.00:0.00,0.88:55,40:15.3,74.5:0,0:0,0:31,8:118,143:17,8:-,NM_015383.1(NBPF14) c.561T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 148022966 rs79004754 A G 65 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=NA;PC=0.852;Gene=NBPF8/NM_001037501.2/1;CC=c.1546T>C;ProtCh=p.S516P;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:150:142:0:0:124,26:4021,827:0.00,65.09:0.00,66.74:0.00,-1.65:0.00,1.00:0.00,1.00:0.00,0.99:55,40:16.8,46.0:0,0:0,0:49,21:100,130:22,9:-,NM_015383.1(NBPF14) c.526T>C (p.Ser176Pro):-,NOT_FOUND:-,NOT_FOUND 1 148022984 rs9441420 T C 37 lc VT=SNV;PN=G;NN=T;SST=Single;DP=175;DB;DBA=NA;PAF=T/0.9806,A/.,C/0.01937;PC=0.028;Gene=NBPF8/NM_001037501.2/1;CC=c.1528A>G;ProtCh=p.T510A;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,G,T:175:165:0:0:16,3,156:526,35,4307:37.25,-0.48,0.00:29.21,-0.30,0.00:8.04,-0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.94,0.00,0.00:40,37,55:51.8,72.7,16.3:0,0,0:0,0,0:69,62,42:80,89,108:7,9,24:NM_015383.1(NBPF14) c.508A>G (p.Thr170Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 148023067 rs200903994 C T 61 lc VT=SNV;PN=A;NN=A;SST=Single;DP=284;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;PC=0.986;Gene=NBPF8/NM_001037501.2/1;CC=c.1445G>A;ProtCh=p.C482Y;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:284:234:0:0:255,1,28:8332,10,869:0.00,-0.40,60.66:0.00,-0.28,4.07:0.00,-0.12,56.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,14,22:15.0,173.0,42.3:0,0,0:0,0,0:63,79,92:85,71,58:28,0,26:-,NM_015383.1(NBPF14) c.425G>A (p.Cys142Tyr):-,NOT_FOUND:-,NOT_FOUND 1 148023124 rs587604764 T G 58 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=240;DB;DBA=NA;PAF=NA;PC=0.993;Gene=NBPF8/NM_001037501.2/1;CC=c.1388A>C;ProtCh=p.Q463P;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:240:150:0:0:28,212:815,7243:57.64,0.00:56.15,0.00:1.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:49.2,10.7:0,0:0,0:93,109:57,40:20,20:NM_015383.1(NBPF14) c.368A>C (p.Gln123Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 148023133 . C . . NT END=148023596;NT GT ./. 1 148023192 rs61810789 G T 132 nt VT=SNV;PN=A;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=NA;NP=1;PC=0.008;Gene=NBPF8/NM_001037501.2/1;CC=c.1380-60C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:158:28:0:0:112,46:3503,1510:0.00,131.57:0.00,20.13:0.00,111.44:0.00,1.00:0.00,1.00:0.00,1.00:40,40:25.5,61.6:0,0:0,0:81,60:68,91:34,40:-,NM_015383.1(NBPF14) c.360-60C>A:-,NOT_FOUND:-,NOT_FOUND 1 148023204 rs61810790 T A 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.1380-72A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:152:13:0:0:25,127:848,4184:67.25,0.00:5.95,0.00:61.30,0.00:1.00,0.00:0.84,0.00:1.00,0.00:40,40:75.8,32.5:0,0:0,0:45,88:102,63:21,31:NM_015383.1(NBPF14) c.360-72A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148023207 rs61810791 T C 157 nt VT=SNV;PN=G;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=4;PC=0.009;Gene=NBPF8/NM_001037501.2/1;CC=c.1380-75A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:150:13:0:0:53,97:1744,3112:157.36,0.00:5.18,0.00:152.18,0.00:1.00,0.00:0.99,0.00:1.00,0.00:40,40:41.2,38.8:0,0:0,0:76,76:75,73:25,33:NM_015383.1(NBPF14) c.360-75A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148023248 rs28441678 A C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.1380-116T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,C:134:7:0:0:123,11:3917,384:0.00,27.14:0.00,-0.26:0.00,27.40:0.00,0.98:0.00,0.42:0.00,1.00:40,40:41.8,77.9:0,0:0,0:101,85:49,66:28,17:-,NM_015383.1(NBPF14) c.360-116T>G:-,NOT_FOUND:-,NOT_FOUND 1 148023270 rs368087729 A T 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.049;Gene=NBPF8/NM_001037501.2/1;CC=c.1380-138T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,T:113:7:0:0:102,11:3157,348:0.00,24.40:0.00,-0.31:0.00,24.71:0.00,0.99:0.00,0.48:0.00,1.00:40,40:42.0,77.2:0,0:0,0:107,90:44,61:27,22:-,NM_015383.1(NBPF14) c.360-138T>A:-,NOT_FOUND:-,NOT_FOUND 1 148023340 rs200525870 C G 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF8/NM_001037501.2/1;CC=c.1380-208G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:49:10:0:0:32,17:1021,541:0.00,48.48:0.00,2.35:0.00,46.12:0.00,1.00:0.00,0.97:0.00,1.00:40,40:22.9,55.7:0,0:0,0:89,122:61,29:42,9:-,NM_015383.1(NBPF14) c.360-208G>C:-,NOT_FOUND:-,NOT_FOUND 1 148023403 rs201620940 G A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=2356;PC=0.015;Gene=NBPF8/NM_001037501.2/1;CC=c.1379+194C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:15:0:0:8,19:237,574:20.41,0.00:15.64,0.00:4.77,0.00:0.98,0.00:0.99,0.00:0.97,0.00:51,52:67.1,33.4:0,0:0,0:45,95:105,52:15,28:NM_015383.1(NBPF14) c.359+194C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148023418 . G A 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;PC=0.041;Gene=NBPF8/NM_001037501.2/1;CC=c.1379+179C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:28:19:0:0:4,24:113,663:8.28,0.00:8.88,0.00:-0.60,0.00:0.66,0.00:0.89,0.00:0.69,0.00:35,52:106.8,33.6:0,0:0,0:62,77:83,73:42,38:NM_015383.1(NBPF14) c.359+179C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148023467 rs61810794 G A 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.008;Gene=NBPF8/NM_001037501.2/1;CC=c.1379+130C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,G:26:24:0:0:5,21:155,605:12.37,0.00:12.60,0.00:-0.23,0.00:0.82,0.00:0.98,0.00:0.52,0.00:24,52:62.0,46.4:0,0:0,0:38,84:113,58:11,37:NM_015383.1(NBPF14) c.359+130C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148023489 rs9441424 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6811,A/.,G/.,T/0.3189;NP=620;PC=0.015;Gene=NBPF8/NM_001037501.2/1;CC=c.1379+108G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:23:22:0:0:19,4:582,117:0.00,9.01:0.00,7.57:0.00,1.43:0.00,0.69:0.00,0.96:0.00,0.48:52,43:39.6,110.2:0,0:0,0:74,118:77,31:25,9:-,NM_015383.1(NBPF14) c.359+108G>A:-,NOT_FOUND:-,NOT_FOUND 1 148023494 rs75500016 G A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF8/NM_001037501.2/1;CC=c.1379+103C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:23:22:0:0:4,19:117,529:9.01,0.00:7.53,0.00:1.48,0.00:0.69,0.00:0.96,0.00:0.48,0.00:43,52:110.2,39.6:0,0:0,0:123,79:26,72:9,25:NM_015383.1(NBPF14) c.359+103C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148023509 rs140737308 G A 28 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=906;PC=0.009;Gene=NBPF8/NM_001037501.2/1;CC=c.1379+88C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:19:0:0:10,11:300,315:28.47,0.00:27.39,0.00:1.08,0.00:1.00,0.00:1.00,0.00:0.93,0.00:51,52:69.7,39.8:3,0:0,0:98,73:52,78:27,24:NM_015383.1(NBPF14) c.359+88C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148023670 . C . . NT END=148024710;NT GT ./. 1 148024842 rs199813623 C A 32 lc VT=SNV;PN=G;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;Gene=NBPF8/NM_001037501.2/1;CC=c.1175G>T;ProtCh=p.R392L;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:86:42:0:0:13,72,1:413,2318,34:31.74,0.00,1.58:7.27,0.00,-0.15:24.47,0.00,1.74:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:59,58,40:70.1,8.6,34.0:0,0,0:0,0,0:55,68,56:96,83,93:15,32,0:NM_015383.1(NBPF14) c.155G>T (p.Arg52Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 148024903 rs75510304 C T 55 lc VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;PC=0.221;Gene=NBPF8/NM_001037501.2/1;CC=c.1114G>A;ProtCh=p.A372T;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:30:0:0:52,20:1627,637:0.00,54.81:0.00,7.06:0.00,47.76:0.00,1.00:0.00,1.00:0.00,1.00:60,40:7.5,53.8:0,0:0,0:101,113:49,36:17,10:-,NM_015383.1(NBPF14) c.94G>A (p.Ala32Thr):-,NOT_FOUND:-,NOT_FOUND 1 148024926 . C . . NT END=148025760;NT GT ./. 1 148024998 rs78657144 T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF8/NM_001037501.2/1;CC=c.1092-73A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:C,T:26:3:0:0:4,22:103,687:7.40,0.00:-0.11,0.00:7.51,0.00:0.67,0.00:0.44,0.00:0.67,0.00:40,60:176.5,11.8:0,0:0,0:63,104:77,46:46,38:NM_015383.1(NBPF14) c.72-73A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148025031 . G A 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;PC=0.008;Gene=NBPF8/NM_001037501.2/1;CC=c.1092-106C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,G:21:1:0:0:3,18:91,575:6.80,0.00:-0.03,0.00:6.83,0.00:0.49,0.00:0.43,0.00:0.49,0.00:40,60:201.7,13.7:0,0:0,0:55,88:96,57:9,36:NM_015383.1(NBPF14) c.72-106C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148025051 rs79173369 T G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=NBPF8/NM_001037501.2/1;CC=c.1092-126A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:G,T:17:1:0:0:4,13:140,383:11.89,0.00:-0.06,0.00:11.95,0.00:0.74,0.00:0.49,0.00:0.74,0.00:20,53:184.2,14.2:0,0:0,0:38,98:113,48:29,11:NM_015383.1(NBPF14) c.72-126A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148025108 rs184735478 A T 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBPF8/NM_001037501.2/1;CC=c.1092-183T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,T:8:0:0:0:4,4:98,129:0.00,12.42:0.00,0.00:0.00,12.42:0.00,0.87:0.00,0.00:0.00,0.87:53,20:32.0,184.2:0,0:0,0:104,95:47,56:16,29:-,NM_015383.1(NBPF14) c.72-183T>A:-,0.02:-,NOT_FOUND 1 148025113 . G C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;PC=0.005;Gene=NBPF8/NM_001037501.2/1;CC=c.1092-188C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,G:9:0:0:0:4,5:135,165:12.72,0.00:0.00,0.00:12.72,0.00:0.85,0.00:0.00,0.00:0.85,0.00:20,53:184.2,28.2:0,0:0,0:100,93:51,58:29,32:NM_015383.1(NBPF14) c.72-188C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148025118 rs368762798 G A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NBPF8/NM_001037501.2/1;CC=c.1092-193C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,G:9:0:0:0:4,5:116,163:10.81,0.00:0.00,0.00:10.81,0.00:0.85,0.00:0.00,0.00:0.85,0.00:20,53:184.2,28.2:0,0:0,0:105,98:46,53:29,32:NM_015383.1(NBPF14) c.72-193C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148025606 rs61810802 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3116;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.1091+155G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:15:0:0:9,6:288,197:0.00,18.18:0.00,18.18:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,40:26.6,45.5:0,0:0,0:93,111:58,39:31,16:-,NM_015383.1(NBPF14) c.71+155G>A:-,NOT_FOUND:-,NOT_FOUND 1 148025702 rs199792937 G A 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.1091+59C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:43:36:0:0:5,38:159,1275:11.58,0.00:6.37,0.00:5.20,0.00:0.75,0.00:0.96,0.00:0.76,0.00:34,55:119.2,10.6:0,0:0,0:28,24:123,126:11,18:NM_015383.1(NBPF14) c.71+59C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 148025763 rs200725260 G A 11 lc VT=SNV;PN=T;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;Gene=NBPF8/NM_001037501.2/1;CC=c.1089C>T;ProtCh=p.L363=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,G:61:44:0:0:5,56:166,1877:11.48,0.00:4.49,0.00:6.99,0.00:0.69,0.00:0.92,0.00:0.94,0.00:34,54:112.2,10.1:0,0:0,0:69,59:82,89:20,20:NM_015383.1(NBPF14) c.69C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 148025797 rs201925335 T A 11 lc VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.1055A>T;ProtCh=p.K352M;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:A,T:64:39:0:0:5,59:167,1992:11.47,0.00:3.41,0.00:8.05,0.00:0.68,0.00:0.87,0.00:0.96,0.00:34,54:107.0,9.7:0,0:0,0:112,91:39,55:13,19:NM_015383.1(NBPF14) c.35A>T (p.Lys12Met),-:NOT_FOUND,-:NOT_FOUND,- 1 148025832 . A . . NT END=148201966;NT GT ./. 1 148025844 rs200818786 A G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=12;PC=0.008;Gene=NBPF8/NM_001037501.2/1;CC=c.1008T>C;ProtCh=p.D336=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:57:21:0:0:51,6:1675,193:0.00,13.84:0.00,-0.53:0.00,14.37:0.00,0.83:0.00,0.81:0.00,0.99:54,40:9.8,87.3:0,0:0,0:102,127:40,24:28,8:-,NM_015383.1(NBPF14) c.-13T>C:-,NOT_FOUND:-,NOT_FOUND 1 148025882 rs61810804 A G 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=407;PC=0.100;Gene=NBPF8/NM_001037501.2/1;CC=c.989-19T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:3:0:0:19,13:546,455:0.00,42.33:0.00,-0.34:0.00,42.67:0.00,1.00:0.00,0.81:0.00,1.00:54,40:4.6,36.6:0,0:0,0:106,119:38,32:25,19:-,NM_015383.1(NBPF14) c.-17-u34T>C:-,NOT_FOUND:-,NOT_FOUND 1 148176199 . C T 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=59;NP=2;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.989-150336G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,T:59:54:0:0:52,7:1699,238:0.00,17.81:0.00,8.52:0.00,9.29:0.00,0.91:0.00,0.99:0.00,0.97:60,31:7.2,57.3:0,0:0,0:81,78:62,73:36,25:-,chr1 g.148176198C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148176217 . AGAG A 11 rn VT=DEL;SST=Single;DP=61;PC=0.814;Gene=NBPF8/NM_001037501.2/1;CC=c.989-150357_989-150355delCTC;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:AGAG,G,A:61:46:0:5:55,1,5:1796,7,158:0.00,-0.31,10.72:0.00,-0.19,5.21:0.00,-0.12,5.51:0.00,0.00,0.69:0.00,0.00,0.93:0.00,0.00,0.93:60,54,49:17.0,7.0,4.2:0,0,0:0,0,0:64,0,58:87,151,91:29,0,6:-,chr1 g.148176218_148176220delGAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148176235 . GGAGGAA G 9 nt VT=DEL;SST=Single;DP=61;PC=0.825;Gene=NBPF8/NM_001037501.2/1;CC=c.989-150378_989-150373delTTCCTC;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:GGAGGAA,G:61:39:0:7:54,7:1778,143:0.00,8.52:0.00,2.76:0.00,5.76:0.00,0.90:0.00,0.97:0.00,0.99:60,35:10.6,58.1:0,0:0,0:76,98:74,53:25,21:-,chr1 g.148176236_148176241delGAGGAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148176291 . C T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;NP=29;PC=1.000;Gene=NBPF8/NM_001037501.2/1;CC=c.989-150428G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:C,T:50:19:0:0:46,4:1402,126:0.00,8.47:0.00,0.92:0.00,7.54:0.00,0.55:0.00,0.68:0.00,0.92:60,31:12.8,73.5:0,0:0,0:106,128:43,22:23,17:-,chr1 g.148176290C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148202462 . G . . NT END=148644085;NT GT ./. 1 148241144 . A G 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;Gene=NBPF8/NM_001037501.2/1;CC=c.988+99094T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G:15:15:0:0:12,3:382,95:0.00,7.67:0.00,7.72:0.00,-0.05:0.00,0.55:0.00,0.55:0.00,0.47:43,25:36.0,194.7:0,0:0,0:56,34:92,86:15,1:-,chr1 g.148241143A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241146 rs61811723 C G 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;NP=246;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.988+99092G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,C,G:15:15:0:0:1,9,5:7,314,139:-0.03,0.00,12.30:-0.02,0.00,12.39:-0.02,0.00,-0.09:0.00,0.00,0.89:0.00,0.00,0.89:0.00,0.00,0.56:25,43,37:219.0,41.6,84.6:0,0,0:0,0,0:79,57,30:30,90,121:0,19,28:-,chr1 g.148241145C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241166 rs376022763 G A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=257;Gene=NBPF8/NM_001037501.2/1;CC=c.988+99072C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,G:22:22:0:0:7,15:151,487:12.42,0.00:12.84,0.00:-0.42,0.00:0.97,0.00:0.97,0.00:0.84,0.00:40,50:79.9,52.9:0,0:0,0:24,56:127,70:24,35:chr1 g.148241165G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241199 . G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;Gene=NBPF8/NM_001037501.2/1;CC=c.988+99039C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,G:27:27:0:0:6,21:199,585:16.58,0.00:16.96,0.00:-0.38,0.00:0.91,0.00:0.91,0.00:0.79,0.00:25,50:193.8,27.3:0,0:0,0:71,51:65,97:31,32:chr1 g.148241198G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241227 . T C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;PC=0.009;Gene=NBPF8/NM_001037501.2/1;CC=c.988+99011A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:C,T:30:26:0:0:4,26:114,764:8.24,0.00:8.71,0.00:-0.46,0.00:0.64,0.00:0.93,0.00:0.72,0.00:21,54:185.8,36.2:0,0:0,0:85,64:49,86:31,37:chr1 g.148241226T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241270 . T G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;NP=1;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98968A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:G,T:40:36:0:0:4,36:133,1139:9.57,0.00:5.33,0.00:4.24,0.00:0.59,0.00:0.93,0.00:0.61,0.00:25,60:144.8,33.5:0,0:0,0:68,45:71,104:27,28:chr1 g.148241269T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241294 rs61811724 C T 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98944G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:39:0:0:29,15:956,411:0.00,35.97:0.00,26.83:0.00,9.14:0.00,1.00:0.00,1.00:0.00,0.99:60,53:35.4,69.5:0,0:0,0:69,60:78,78:29,21:-,chr1 g.148241293C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241360 rs75096758 C T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.014;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98878G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:35:31:0:1:22,2,11:671,24,302:0.00,0.56,26.33:0.00,-0.20,18.60:0.00,0.77,7.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.84:60,60,51:19.5,106.5,87.0:0,0,0:0,0,0:109,54,118:30,88,25:19,51,22:-,chr1 g.148241359C>T (intergenic):-,0.24:-,NOT_FOUND 1 148241371 . T G 19 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98867A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:26:0:5:10,18:217,352:18.55,0.00:15.91,0.00:2.64,0.00:1.00,0.00:1.00,0.00:0.66,0.00:60,60:70.1,18.7:0,0:0,0:123,116:18,27:17,21:chr1 g.148241370T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241376 . T G 9 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;PC=0.003;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98862A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G,T,D:28:27:0:5:2,4,19,3:25,121,365,141:0.71,9.35,0.00,5.59:0.06,6.51,0.00,5.63:0.65,2.84,0.00,-0.04:0.00,0.64,0.00,0.00:0.00,0.94,0.00,0.00:0.00,0.40,0.00,0.00:60,60,60,60:76.5,99.8,33.9,83.3:0,1,1,4:0,0,0,0:94,96,122,81:33,52,14,55:40,38,19,14:chr1 g.148241375T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241392 . T G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98846A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:G,T:19:15:0:1:5,14:114,390:9.03,0.00:4.06,0.00:4.97,0.00:0.86,0.00:0.97,0.00:0.88,0.00:51,60:128.6,15.6:0,0:0,0:74,81:42,63:14,31:chr1 g.148241391T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241452 . G GA 15 sb,nt VT=INS;SST=Single;DP=22;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98785_988+98786insT;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:G,GA:22:10:6:0:16,6:474,176:0.00,14.87:0.00,0.18:0.00,14.69:0.00,0.93:0.00,0.93:0.00,0.99:60,41:22.3,195.7:0,0:0,0:61,82:90,44:27,30:-,chr1 g.148241452_148241453insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241459 . A G 15 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;PC=0.005;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98779T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,G:22:10:0:0:16,6:495,182:0.00,15.47:0.00,0.95:0.00,14.51:0.00,0.93:0.00,0.93:0.00,0.99:60,41:25.3,195.7:0,0:0,0:68,90:83,36:22,30:-,chr1 g.148241458A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241462 rs587689334 C T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.224;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98776G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T:22:8:0:0:17,5:557,157:0.00,12.97:0.00,-0.55:0.00,13.53:0.00,0.84:0.00,0.83:0.00,0.98:60,41:17.2,180.8:0,0:0,0:64,111:87,-2:22,30:-,chr1 g.148241461C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241477 rs113571183 A C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.996;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98761T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,C,G:24:9:0:0:18,5,1:568,146,15:0.00,11.76,0.35:0.00,1.19,-0.09:0.00,10.57,0.44:0.00,0.83,0.00:0.00,0.83,0.00:0.00,0.98,0.00:60,41,60:18.0,206.6,15.0:0,0,0:0,0,0:76,90,112:73,53,3:26,14,0:-,chr1 g.148241476A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241497 rs112676235 C T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9405,T/0.0595;PC=0.987;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98741G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,T:24:7:0:0:21,3:642,100:0.00,7.51:0.00,-0.26:0.00,7.77:0.00,0.47:0.00,0.57:0.00,0.88:60,41:15.0,200.7:0,0:0,0:95,110:54,33:34,14:-,chr1 g.148241496C>T (intergenic):-,0.02:-,NOT_FOUND 1 148241504 rs587740974 G C 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.999;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98734C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,C,G:24:8:0:0:1,3,20:12,100,652:0.08,7.56,0.00:-0.08,1.33,0.00:0.16,6.24,0.00:0.00,0.47,0.00:0.00,0.61,0.00:0.00,0.88,0.00:60,41,60:12.0,245.7,14.7:0,0,0:0,0,0:59,105,99:80,46,48:0,3,31:chr1 g.148241503G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148241520 . A C 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;PC=0.996;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98718T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,C:18:6:0:0:15,3:490,99:0.00,7.81:0.00,1.41:0.00,6.40:0.00,0.52:0.00,0.64:0.00,0.91:60,41:15.0,245.7:0,0:0,0:96,122:54,29:25,3:-,chr1 g.148241519A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148241633 rs61811725 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.007588,A/.,T/0.9924;NP=82;PC=0.016;Gene=NBPF8/NM_001037501.2/1;CC=c.988+98605A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:33.5:0:0:108:42:29:chr1 g.148241632T>C (intergenic),chr1 g.148241632T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 148247623 rs200095736 T C 51 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=65;Gene=NBPF8/NM_001037501.2/1;CC=c.988+92615A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:65:0:0:18,55:601,1692:51.00,0.00:53.39,0.00:-2.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:37,43:48.0,11.7:0,0:0,0:68,38:72,105:40,20:chr1 g.148247622T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148247653 . G A 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=102;NP=10;PC=0.002;Gene=NBPF8/NM_001037501.2/1;CC=c.988+92585C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:102:84:0:0:15,1,86:497,9,2657:38.44,-0.30,0.00:34.62,-0.24,0.00:3.82,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,41,51:69.1,132.0,15.5:0,0,0:0,0,0:16,59,52:135,92,95:10,0,30:chr1 g.148247652G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148247786 rs471060 T C 129 nt VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=177;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.988+92452A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:72:32:0:0:1,43,28:13,1298,896:0.08,129.45,0.00:-0.03,59.58,0.00:0.11,69.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,40,55:164.0,57.4,10.4:0,0,0:0,0,0:42,116,116:109,34,35:0,33,20:chr1 g.148247785T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148247844 . C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;NP=52;PC=0.019;Gene=NBPF8/NM_001037501.2/1;CC=c.988+92394G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:54:8:0:0:47,7:1442,205:0.00,14.86:0.00,-0.39:0.00,15.25:0.00,0.92:0.00,0.62:0.00,0.99:55,36:39.7,91.7:0,0:0,0:79,97:72,54:32,5:-,chr1 g.148247843C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148247846 rs375207561 C T 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=31;PC=0.014;Gene=NBPF8/NM_001037501.2/1;CC=c.988+92392G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:9:0:0:40,16:1090,496:0.00,42.78:0.00,10.40:0.00,32.38:0.00,1.00:0.00,0.92:0.00,1.00:55,40:36.3,66.7:0,0:0,0:83,88:67,62:31,20:-,chr1 g.148247845C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148247853 rs369372116 G C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=47;Gene=NBPF8/NM_001037501.2/1;CC=c.988+92385C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:C,G,T:55:9:0:0:5,49,1:138,1502,14:9.16,0.00,-0.03:1.31,0.00,-0.04:7.84,0.00,0.01:0.71,0.00,0.00:0.52,0.00,0.00:0.97,0.00,0.00:40,55,42:91.6,37.6,164.0:0,0,0:0,0,0:79,87,109:72,64,42:34,31,0:chr1 g.148247852G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148247893 rs111910934 C T 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=438;Gene=NBPF8/NM_001037501.2/1;CC=c.988+92345G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:7:0:0:31,11:899,354:0.00,30.19:0.00,2.90:0.00,27.29:0.00,1.00:0.00,0.85:0.00,1.00:55,44:37.9,64.8:0,0:0,0:99,95:45,56:28,33:-,chr1 g.148247892C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148251971 . G A 16 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;NP=2;PC=0.006;Gene=NBPF8/NM_001037501.2/1;CC=c.988+88267C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8364C>T;ProtCh=p.H2788=;VC=Silent;Gene=NBPF9/NM_001277444.1/1;CC=c.3240C>T;ProtCh=p.H1080=;VC=Silent;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:62:49:0:0:8,54:222,1819:15.75,0.00:16.92,0.00:-1.17,0.00:0.95,0.00:0.99,0.00:0.92,0.00:37,55:117.4,6.4:0,0:0,0:25,74:126,75:12,40:chr1 g.148251970G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148251976 . G C 24 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;NP=5;PC=0.195;Gene=NBPF8/NM_001037501.2/1;CC=c.988+88262C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8359C>G;ProtCh=p.Q2787E;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3235C>G;ProtCh=p.Q1079E;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:C,G:63:50:0:0:9,54:307,1833:23.78,0.00:25.08,0.00:-1.31,0.00:0.98,0.00:1.00,0.00:0.95,0.00:37,55:112.3,6.2:0,0:0,0:26,74:125,75:18,41:chr1 g.148251975G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148252049 rs201353547 A C 95 nt VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=1;NP=2724;PC=0.018;Gene=NBPF8/NM_001037501.2/1;CC=c.988+88189T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8286T>G;ProtCh=p.S2762=;VC=Silent;Gene=NBPF9/NM_001277444.1/1;CC=c.3162T>G;ProtCh=p.S1054=;VC=Silent;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:85:74:0:0:53,31,1:1665,1038,20:0.00,94.59,0.38:0.00,76.59,0.47:0.00,18.01,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,40,51:8.1,98.2,50.0:0,0,0:0,0,0:68,47,24:80,101,127:32,13,0:-,chr1 g.148252048A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252105 rs374140805 G C 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.998,C/0.001997,T/.;NP=1;NP=210;PC=0.003;Gene=NBPF8/NM_001037501.2/1;CC=c.988+88133C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8230C>G;ProtCh=p.L2744V;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3106C>G;ProtCh=p.L1036V;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:91:70:0:0:19,72:620,2407:50.83,0.00:31.71,0.00:19.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,60:117.7,29.3:0,0:0,0:65,84:62,65:35,33:chr1 g.148252104G>C (intergenic),-:NOT_FOUND,-:0.000923,- 1 148252111 rs1142502 C T 128 nt VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=3414;Gene=NBPF8/NM_001037501.2/1;CC=c.988+88127G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8224G>A;ProtCh=p.G2742S;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3100G>A;ProtCh=p.G1034S;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:87:68:0:0:48,39:1368,1351:0.00,127.87:0.00,71.52:0.00,56.35:0.00,1.00:0.00,1.00:0.00,1.00:60,48:14.3,101.4:0,0:0,0:90,71:58,61:34,37:-,chr1 g.148252110C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252164 rs61812475 A C 124 nt VT=SNV;PN=A;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=3381;PC=0.043;Gene=NBPF8/NM_001037501.2/1;CC=c.988+88074T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8217-46T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-46T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:85:37:0:0:45,40:1400,1309:0.00,124.43:0.00,36.13:0.00,88.29:0.00,1.00:0.00,1.00:0.00,1.00:60,48:13.0,100.7:0,0:0,0:96,107:51,44:36,26:-,chr1 g.148252163A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252207 . G A 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;NP=333;PC=0.146;Gene=NBPF8/NM_001037501.2/1;CC=c.988+88031C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8217-89C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-89C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:15:0:0:13,40:403,1255:33.68,0.00:11.09,0.00:22.59,0.00:1.00,0.00:0.96,0.00:1.00,0.00:51,60:132.9,28.7:0,0:0,0:113,105:37,37:26,23:chr1 g.148252206G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148252243 . T TA 11 idl,rn VT=INS;SST=Single;DP=33;NP=42;PC=0.410;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87994dupT;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8217-126dupT;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-126dupT;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:T,TA:30:6:9:0:24,6:732,207:0.00,11.08:0.00,-0.31:0.00,11.38:0.00,0.89:0.00,0.67:0.00,0.99:60,40:37.4,134.0:0,3:0,0:115,112:31,39:16,19:-,chr1 g.148252243_148252244insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252264 rs61812478 A T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=2;PC=0.008;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87974T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8217-146T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-146T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,T:24:2:0:0:18,6:564,195:0.00,16.50:0.00,-0.19:0.00,16.69:0.00,0.92:0.00,0.53:0.00,0.99:60,40:21.9,96.8:0,0:0,0:123,111:28,39:18,23:-,chr1 g.148252263A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252643 . A G 10 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;NP=1;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87595T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8216+87T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-525T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:62:59:0:0:57,5:1878,156:0.00,10.44:0.00,10.63:0.00,-0.18:0.00,0.69:0.00,0.97:0.00,0.42:51,14:14.6,117.8:0,0:0,0:49,53:102,98:25,27:-,chr1 g.148252642A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252647 . C A 11 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;PC=0.002;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87591G>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8216+83G>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-529G>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:A,C:62:59:0:0:5,57:165,1879:11.34,0.00:11.53,0.00:-0.18,0.00:0.69,0.00:0.97,0.00:0.42,0.00:15,51:41.2,21.8:0,0:0,0:35,53:116,98:0,27:chr1 g.148252646C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148252702 . T C 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=93;NP=7;PC=0.025;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87536A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8216+28A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-584A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:80:0:0:22,71:731,2236:61.52,0.00:47.23,0.00:14.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:81.9,12.1:0,0:0,0:51,52:98,88:31,38:chr1 g.148252701T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148252713 . C G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=102;NP=1;PC=0.052;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87525G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8216+17G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-595G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,G:102:89:0:0:94,8:3143,263:0.00,17.95:0.00,15.51:0.00,2.44:0.00,0.91:0.00,0.99:0.00,0.96:40,40:20.0,117.9:0,0:0,0:46,13:100,120:27,11:-,chr1 g.148252712C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252752 . C T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=114;NP=30;PC=0.021;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87486G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8194G>A;ProtCh=p.D2732N;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-634G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:C,T:114:85:0:0:105,9:3396,279:0.00,18.55:0.00,8.75:0.00,9.79:0.00,0.95:0.00,0.99:0.00,0.99:40,40:23.7,104.2:0,0:0,0:56,51:88,90:25,31:-,chr1 g.148252751C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148252811 . T A 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=108;NP=4;PC=0.200;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87427A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8135A>T;ProtCh=p.K2712I;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-693A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:108:50:0:0:16,92:527,2906:40.67,0.00:6.91,0.00:33.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:51.2,22.8:0,0:0,0:104,99:43,50:19,22:chr1 g.148252810T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148252841 . G A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=81;PC=0.891;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87397C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8108-3C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-723C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,G,T:81:28:0:0:7,73,1:210,2359,10:14.05,0.00,-0.26:0.67,0.00,0.03:13.38,0.00,-0.29:0.87,0.00,0.00:0.82,0.00,0.00:0.99,0.00,0.00:40,52,14:44.0,24.4,10.0:0,0,0:0,0,0:138,108,122:13,43,29:6,25,0:chr1 g.148252840G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148252935 rs144033154 C T 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9806,T/0.01937;PC=0.007;Gene=NBPF8/NM_001037501.2/1;CC=c.988+87303G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.8108-97G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.3093-817G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:5:0:0:16,7:492,236:0.00,20.81:0.00,6.68:0.00,14.12:0.00,0.97:0.00,0.83:0.00,1.00:60,60:14.3,33.7:0,0:0,0:107,59:36,92:16,22:-,chr1 g.148252934C>T (intergenic):-,0.05:-,NOT_FOUND 1 148261358 . A G 13 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;PC=0.563;Gene=NBPF8/NM_001037501.2/1;CC=c.988+78880T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.7427+2546T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2586-1281T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:22:22:0:0:17,5:522,158:0.00,13.07:0.00,13.07:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:17,16:20.6,36.4:0,0:0,0:20,72:131,79:12,37:-,chr1 g.148261357A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148261568 . A T 38 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=176;PC=0.035;Gene=NBPF8/NM_001037501.2/1;CC=c.988+78670T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.7427+2336T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2586-1491T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,T:176:164:0:0:160,16:5278,533:0.00,37.66:0.00,37.48:0.00,0.18:0.00,1.00:0.00,1.00:0.00,0.94:40,40:7.0,36.8:0,0:0,0:55,14:94,136:38,4:-,chr1 g.148261567A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148262156 . G A 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=91;NP=84;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.988+78082C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.7427+1748C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.2586-2079C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:89:0:0:16,75:516,2472:40.87,0.00:39.56,0.00:1.31,0.00:1.00,0.00:1.00,0.00:0.61,0.00:40,40:37.1,7.2:0,0:0,0:61,26:88,125:47,21:chr1 g.148262155G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148306247 rs61809865 A G 358 nt VT=SNV;PN=C;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.974;Gene=NBPF8/NM_001037501.2/1;CC=c.988+33991T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.5231+612T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+22783T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:A,G:102:52:0:0:5,97:110,3199:0.00,357.81:0.00,92.38:0.00,265.43:0.00,1.00:0.00,1.00:0.00,1.00:14,40:90.2,74.6:0,0:0,0:113,92:36,57:9,25:chr1 g.148306246A>G (intergenic),chr1 g.148306246A>G (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 1 148306276 . G T 124 nt VT=SNV;PN=A;NN=C;SST=Single;DP=83;PC=0.975;Gene=NBPF8/NM_001037501.2/1;CC=c.988+33962C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.5231+583C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+22754C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:83:24:0:0:43,40:1419,1300:0.00,124.11:0.00,13.19:0.00,110.92:0.00,1.00:0.00,1.00:0.00,1.00:40,40:74.4,99.5:0,0:0,0:111,116:40,34:24,20:-,chr1 g.148306275G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148306281 rs200627416 G A 280 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=49;PC=0.966;Gene=NBPF8/NM_001037501.2/1;CC=c.988+33957C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.5231+578C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+22749C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:A,G:78:16:0:0:74,4:2512,83:279.89,0.00:25.08,0.00:254.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,14:87.4,103.2:0,0:0,0:112,111:37,39:18,37:chr1 g.148306280G>A (intergenic),chr1 g.148306280G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148320483 . A G 11 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;NP=3;PC=0.995;Gene=NBPF8/NM_001037501.2/1;CC=c.988+19755T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.3059T>C;ProtCh=p.V1020A;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+8547T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:10:10:0:0:6,4:135,120:0.00,11.02:0.00,11.02:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:40,8:76.2,66.5:0,0:0,0:106,81:45,60:30,16:-,chr1 g.148320482A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148320715 rs587704043 C G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=12;PC=0.038;Gene=NBPF8/NM_001037501.2/1;CC=c.988+19523G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.3036-209G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+8315G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,G:14:0:0:0:9,5:270,147:0.00,13.13:0.00,0.00:0.00,13.13:0.00,0.90:0.00,0.00:0.00,0.90:20,51:78.7,44.8:2,0:0,0:66,52:85,99:9,10:-,chr1 g.148320714C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148320729 rs201904244 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=248;PC=0.015;Gene=NBPF8/NM_001037501.2/1;CC=c.988+19509C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.3036-223C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+8301C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,G:12:0:0:2:6,6:167,156:15.93,0.00:0.00,0.00:15.93,0.00:0.98,0.00:0.00,0.00:0.98,0.00:20,51:84.8,47.5:0,0:0,0:78,61:73,90:9,21:chr1 g.148320728G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148320758 . C T 11 idl;mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;Gene=NBPF8/NM_001037501.2/1;CC=c.988+19480G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.3036-252G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+8272G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:14:0:0:0:10,4:262,130:0.00,11.28:0.00,0.00:0.00,11.28:0.00,0.77:0.00,0.00:0.00,0.77:51,8:61.2,80.0:0,4:0,0:104,97:46,49:10,11:-,chr1 g.148320757C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148322566 rs374459008 A G 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.013;Gene=NBPF8/NM_001037501.2/1;CC=c.988+17672T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.2810+121T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+6464T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,G:10:10:0:0:2,8:51,266:0.00,28.25:0.00,28.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:17,39:44.0,34.6:0,0:0,0:61,25:89,125:16,22:-,chr1 g.148322565A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148322894 rs201651945 C G 24 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=27;Gene=NBPF8/NM_001037501.2/1;CC=c.988+17344G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.2759-156G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+6136G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,G:9:0:0:0:2,7:62,232:0.00,24.47:0.00,0.00:0.00,24.47:0.00,1.00:0.00,0.00:0.00,1.00:40,15:0.0,42.1:0,0:0,0:37,61:113,88:8,28:-,chr1 g.148322893C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148328520 rs202185072 G C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.336;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11718C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1854-128C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+510C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,G:6:3:0:0:3,3:105,98:10.13,0.00:6.95,0.00:3.17,0.00:0.73,0.00:0.89,0.00:0.89,0.00:40,27:79.7,96.0:0,0:0,0:37,29:103,122:8,2:chr1 g.148328519G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148328578 rs182690918 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.022;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11660C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1854-186C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+452C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:16:4:0:0:5,11:136,305:11.68,0.00:2.77,0.00:8.91,0.00:0.88,0.00:0.78,0.00:0.98,0.00:27,52:186.4,73.8:1,1:0,0:45,61:104,86:22,26:chr1 g.148328577G>A (intergenic),-:0.06,-:NOT_FOUND,- 1 148328589 rs4116924 T A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2;PC=0.009;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11649A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1854-197A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+441A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G,T:13:3:0:3:4,1,8:105,12,245:9.08,0.36,0.00:-0.40,-0.09,0.00:9.48,0.45,0.00:0.79,0.00,0.00:0.69,0.00,0.00:0.96,0.00,0.00:27,43,52:196.2,164.0,50.9:0,0,0:0,0,0:88,17,84:58,134,65:10,0,27:chr1 g.148328588T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148328604 rs61809868 A C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11634T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1854-212T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+426T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:16:3:0:0:9,7:211,220:0.00,20.63:0.00,3.27:0.00,17.36:0.00,0.98:0.00,0.84:0.00,1.00:52,27:56.9,171.0:0,2:0,0:78,71:72,78:26,22:-,chr1 g.148328603A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148328639 . A T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11599T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1854-247T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+391T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,T:17:1:0:0:13,4:337,123:0.00,10.20:0.00,-0.11:0.00,10.31:0.00,0.74:0.00,0.49:0.00,0.97:52,27:87.2,178.2:0,0:0,0:93,99:54,49:29,8:-,chr1 g.148328638A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148328640 . G T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11598C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1854-248C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+390C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:G,T:17:1:0:0:12,5:321,138:0.00,11.72:0.00,1.37:0.00,10.35:0.00,0.88:0.00,0.53:0.00,0.88:52,27:81.3,169.8:0,0:0,0:98,93:50,54:38,14:-,chr1 g.148328639G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148328652 . A C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;PC=0.017;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11586T>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1854-260T>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+378T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,C:14:1:0:0:11,3:324,106:0.00,8.87:0.00,1.70:0.00,7.17:0.00,0.56:0.00,0.48:0.00,0.56:52,27:68.0,206.3:0,0:0,0:102,119:49,30:20,22:-,chr1 g.148328651A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148328719 rs112734863 T A 7 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.988+11519A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.1853+311A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.1853+311A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,T:5:0:0:0:2,3:71,83:6.60,0.00:0.00,0.00:6.60,0.00:0.46,0.00:0.00,0.00:0.46,0.00:19,45:154.0,54.7:0,0:0,0:92,122:58,29:13,7:chr1 g.148328718T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148341688 rs147252626 T C 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=512;PC=0.918;Gene=NBPF8/NM_001037501.2/1;CC=c.778+107A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.778+107A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.778+107A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:11,15:346,477:32.16,0.00:32.16,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:63.0,18.2:0,0:0,0:41,59:110,90:31,33:chr1 g.148341687T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148341745 . T C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;NP=98;PC=0.996;Gene=NBPF8/NM_001037501.2/1;CC=c.778+50A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.778+50A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.778+50A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:59:0:0:13,48:403,1353:32.82,0.00:33.03,0.00:-0.21,0.00:1.00,0.00:1.00,0.00:0.48,0.00:27,40:53.2,18.9:0,0:0,0:54,35:97,115:42,23:chr1 g.148341744T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148341812 rs202096824 G A 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=1526;PC=0.010;Gene=NBPF8/NM_001037501.2/1;CC=c.761C>T;ProtCh=p.A254V;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.761C>T;ProtCh=p.A254V;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.761C>T;ProtCh=p.A254V;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:116:113:0:0:21,95:625,3113:48.74,0.00:45.98,0.00:2.76,0.00:1.00,0.00:1.00,0.00:0.50,0.00:40,40:45.0,10.6:0,0:0,0:53,52:98,99:30,31:chr1 g.148341811G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148341981 rs4659311 T C 143 nt VT=SNV;PN=T;NN=G;SST=Single;DP=317;DB;DBA=NA;PAF=NA;PC=0.928;Gene=NBPF8/NM_001037501.2/1;CC=c.592A>G;ProtCh=p.K198E;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.592A>G;ProtCh=p.K198E;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.592A>G;ProtCh=p.K198E;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:317:178:0:0:58,259:1811,8557:143.33,0.00:53.17,0.00:90.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,53:53.2,8.6:0,0:0,0:77,78:68,66:26,25:chr1 g.148341980T>C (intergenic),-:NOT_FOUND,-:0.15068,- 1 148342066 rs61809875 G T 137 nt VT=SNV;PN=A;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=NA;NP=2315;PC=0.005;Gene=NBPF8/NM_001037501.2/1;CC=c.567-60C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.567-60C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.567-60C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:156:34:0:0:1,1,106,48:11,5,3345,1554:-0.20,-0.26,0.00,136.82:-0.03,-0.03,0.00,19.43:-0.16,-0.23,0.00,117.39:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:45,22,58,40:150.0,66.0,8.9,67.5:1,0,0,0:0,0,0,0:67,128,118,127:82,16,32,24:0,0,24,16:-,chr1 g.148342065G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342090 rs61809876 A G 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=259;PC=0.092;Gene=NBPF8/NM_001037501.2/1;CC=c.567-84T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.567-84T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.567-84T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:99:7:0:0:70,1,28:2053,13,940:0.00,-0.11,81.93:0.00,-0.02,1.06:0.00,-0.10,80.87:0.00,0.00,1.00:0.00,0.00,0.88:0.00,0.00,1.00:58,27,40:9.6,33.0,86.2:0,0,0:0,0,0:108,147,109:42,4,40:24,0,20:-,chr1 g.148342089A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342186 rs61809877 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=199;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.567-180G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.567-180G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.567-180G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,T:31:6:0:0:24,7:722,193:0.00,15.46:0.00,6.27:0.00,9.19:0.00,0.95:0.00,0.76:0.00,0.99:58,40:8.5,76.0:0,0:0,0:89,68:58,83:39,29:-,chr1 g.148342185C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342227 rs182201521 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=218;PC=0.068;Gene=NBPF8/NM_001037501.2/1;CC=c.567-221A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.567-221A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.567-221A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:27:9:0:0:7,20:217,577:18.35,0.00:5.38,0.00:12.97,0.00:0.96,0.00:0.90,0.00:0.99,0.00:40,55:70.4,13.1:0,0:0,0:80,95:71,54:36,25:chr1 g.148342226T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148342344 rs77116356 G C 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=1297;PC=0.011;Gene=NBPF8/NM_001037501.2/1;CC=c.566+126C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.566+126C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.566+126C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,C,G:56:50:0:0:4,7,45:134,230,1554:9.28,17.41,0.00:8.14,15.44,0.00:1.14,1.97,0.00:0.00,0.91,0.00:0.00,0.99,0.00:0.00,0.70,0.00:40,27,60:151.8,99.9,24.4:0,0,0:0,0,0:39,50,57:111,101,93:22,16,31:chr1 g.148342343G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148342369 rs61809880 A G 77 nt VT=SNV;PN=G;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=2875;PC=0.009;Gene=NBPF8/NM_001037501.2/1;CC=c.566+101T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.566+101T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.566+101T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:62:0:0:41,27:1356,843:0.00,77.31:0.00,66.53:0.00,10.78:0.00,1.00:0.00,1.00:0.00,1.00:60,51:6.6,113.9:0,0:0,0:69,61:82,89:31,30:-,chr1 g.148342368A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342373 rs7516918 C T 53 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6865,T/0.3135;NP=1;NP=2488;PC=0.005;Gene=NBPF8/NM_001037501.2/1;CC=c.566+97G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.566+97G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.566+97G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:62:0:0:49,19:1679,613:0.00,52.87:0.00,44.14:0.00,8.73:0.00,1.00:0.00,1.00:0.00,0.98:60,51:21.9,119.6:0,0:0,0:70,49:81,102:28,33:-,chr1 g.148342372C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342446 rs498452 A T 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=2;NP=2675;PC=0.963;Gene=NBPF8/NM_001037501.2/1;CC=c.566+24T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.566+24T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.566+24T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF9/DUF1220;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:98:87:0:0:67,31:2197,1048:0.00,93.05:0.00,74.91:0.00,18.14:0.00,1.00:0.00,1.00:0.00,1.00:60,49:5.5,106.0:0,0:0,0:58,87:92,62:35,36:-,chr1 g.148342445A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342488 rs3863697 T C 86 nt VT=SNV;PN=C;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=2564;PC=0.274;Gene=NBPF8/NM_001037501.2/1;CC=c.548A>G;ProtCh=p.Q183R;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.548A>G;ProtCh=p.Q183R;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.548A>G;ProtCh=p.Q183R;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:110:91:0:0:2,31,77:66,991,2573:3.47,85.78,0.00:3.70,71.01,0.00:-0.23,14.77,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,50,60:125.5,87.4,6.8:0,0,0:0,0,0:9,80,68:141,71,83:1,40,35:chr1 g.148342487T>C (intergenic),-:NOT_FOUND,-:0.260962,- 1 148342500 rs7530267 G T 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=83;PC=0.477;Gene=NBPF8/NM_001037501.2/1;CC=c.536C>A;ProtCh=p.A179D;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.536C>A;ProtCh=p.A179D;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.536C>A;ProtCh=p.A179D;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF8/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:G,T:120:97:0:0:107,13:3602,412:0.00,29.54:0.00,18.22:0.00,11.32:0.00,1.00:0.00,1.00:0.00,0.90:60,51:24.5,61.5:0,0:0,0:66,13:84,134:32,4:-,chr1 g.148342499G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342562 rs7533008 A G 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=179;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2123;PC=0.072;Gene=NBPF8/NM_001037501.2/1;CC=c.494-20T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.494-20T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.494-20T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF8/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:179:121:0:0:141,38:4555,1146:0.00,92.60:0.00,47.35:0.00,45.25:0.00,1.00:0.00,1.00:0.00,1.00:60,42:9.6,54.3:0,0:0,0:53,61:86,86:31,33:-,chr1 g.148342561A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148342791 rs7530603 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=240;PC=0.348;Gene=NBPF8/NM_001037501.2/1;CC=c.494-249C>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.494-249C>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.494-249C>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF8/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G:25:0:0:0:5,20:151,661:12.06,0.00:0.00,0.00:12.06,0.00:0.83,0.00:0.00,0.00:0.83,0.00:42,42:33.2,14.9:0,0:0,0:117,117:30,33:20,20:chr1 g.148342790G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148343439 . T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;PC=0.016;Gene=NBPF8/NM_001037501.2/1;CC=c.493+155A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.493+155A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.493+155A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF8/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:17:17:0:0:4,13:124,360:10.29,0.00:10.29,0.00:0.00,0.00:0.74,0.00:0.74,0.00:0.00,0.00:24,55:73.5,45.2:0,0:0,0:7,58:143,93:6,22:chr1 g.148343438T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148343477 rs61809885 C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1241;PC=0.016;Gene=NBPF8/NM_001037501.2/1;CC=c.493+117G>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.493+117G>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.493+117G>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF8/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:23:23:0:0:19,4:598,132:0.00,10.49:0.00,10.49:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:55,54:31.1,94.2:0,0:0,0:29,93:122,58:19,2:-,chr1 g.148343476C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148343483 . T G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;NP=4;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.493+111A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.493+111A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.493+111A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;DM=NBPF8/DUF1220;DM=NBPF14/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:G,T:25:24:0:0:4,21:116,662:8.77,0.00:8.84,0.00:-0.08,0.00:0.67,0.00:0.96,0.00:0.44,0.00:24,55:99.2,27.2:0,0:0,0:45,35:105,116:13,29:chr1 g.148343482T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148343792 rs200528112 C A 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=453;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.295G>T;ProtCh=p.V99F;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.295G>T;ProtCh=p.V99F;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.295G>T;ProtCh=p.V99F;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,C:84:44:0:0:10,74:321,2379:23.56,0.00:7.33,0.00:16.24,0.00:1.00,0.00:0.98,0.00:1.00,0.00:54,50:60.2,8.0:0,0:0,0:66,102:57,48:26,27:chr1 g.148343791C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148343881 rs202024582 T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=27;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.279-73A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.279-73A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.279-73A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:C,T:30:5:0:0:3,27:99,816:7.10,0.00:-0.14,0.00:7.24,0.00:0.43,0.00:0.40,0.00:0.88,0.00:24,51:143.7,9.0:0,0:0,0:121,92:29,58:28,32:chr1 g.148343880T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344331 rs370054222 A G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.278+309T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+309T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+309T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,G:6:6:0:0:1,5:24,159:0.00,17.11:0.00,17.11:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:51,41:87.0,207.4:0,0:0,0:129,43:22,107:0,5:-,chr1 g.148344330A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148344342 . T C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.278+298A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+298A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+298A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:8:8:0:0:5,3:172,81:17.29,0.00:17.29,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:41,51:223.0,130.0:0,0:0,0:54,14:96,136:5,6:chr1 g.148344341T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344345 . A T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;PC=0.004;Gene=NBPF8/NM_001037501.2/1;CC=c.278+295T>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+295T>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+295T>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,T:9:9:0:0:4,5:123,151:0.00,14.80:0.00,14.80:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:51,41:97.5,223.0:0,0:0,0:14,57:136,93:8,5:-,chr1 g.148344344A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148344346 rs200499532 T G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;Gene=NBPF8/NM_001037501.2/1;CC=c.278+294A>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+294A>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+294A>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:G,T:9:9:0:0:7,2:248,60:26.07,0.00:26.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:41,51:202.6,43.5:0,0:0,0:53,72:97,78:19,71:chr1 g.148344345T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344396 rs201404461 T C 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=11;PC=0.016;Gene=NBPF8/NM_001037501.2/1;CC=c.278+244A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+244A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+244A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:12:12:0:0:7,5:219,165:21.68,0.00:21.68,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:41,40:208.7,62.8:0,0:0,0:103,51:47,99:19,17:chr1 g.148344395T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344400 rs199525391 T C 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=112;PC=0.002;Gene=NBPF8/NM_001037501.2/1;CC=c.278+240A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+240A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+240A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:13:13:0:0:10,3:350,96:36.72,0.00:36.72,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:41,40:189.7,3.7:0,0:0,0:74,30:64,121:33,3:chr1 g.148344399T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344445 rs61809887 G T 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=272;PC=0.010;Gene=NBPF8/NM_001037501.2/1;CC=c.278+195C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+195C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+195C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:17:0:0:11,7:351,222:0.00,20.32:0.00,16.85:0.00,3.47:0.00,0.98:0.00,1.00:0.00,0.59:40,41:32.3,136.7:0,0:0,0:29,47:122,104:29,32:-,chr1 g.148344444G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148344469 rs61809888 G T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1003;PC=0.002;Gene=NBPF8/NM_001037501.2/1;CC=c.278+171C>A;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+171C>A;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+171C>A;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:20:0:0:12,9:414,282:0.00,26.25:0.00,22.74:0.00,3.51:0.00,1.00:0.00,1.00:0.00,0.62:51,41:5.5,140.0:0,0:0,0:39,109:112,42:16,37:-,chr1 g.148344468G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148344557 . G C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=68;Gene=NBPF8/NM_001037501.2/1;CC=c.278+83C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+83C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+83C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:C,G:68:64:0:0:6,62:194,1866:13.46,0.00:13.82,0.00:-0.36,0.00:0.80,0.00:0.98,0.00:0.63,0.00:42,58:97.5,43.3:0,0:0,0:13,39:138,111:8,27:chr1 g.148344556G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344564 rs3895198 T C 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=1396;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.278+76A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+76A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+76A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:63:0:0:28,41:932,1346:86.31,0.00:67.50,0.00:18.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,58:77.2,26.2:0,0:0,0:31,58:119,93:20,35:chr1 g.148344563T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344624 rs75650621 T A 212 nt VT=SNV;PN=C;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=NA;NP=1669;NP=1775;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.278+16A>T;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.278+16A>T;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.278+16A>T;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:119:90:0:0:64,14,41:2122,466,1336:211.72,38.12,0.00:90.12,18.11,0.00:121.60,20.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:56,42,58:56.5,79.7,9.2:0,0,0:0,0,0:54,62,71:84,85,79:23,16,38:chr1 g.148344623T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344660 rs61809890 G C 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=2305;Gene=NBPF8/NM_001037501.2/1;CC=c.258C>G;ProtCh=p.L86=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.258C>G;ProtCh=p.L86=;VC=Silent;Gene=NBPF9/NM_001277444.1/1;CC=c.258C>G;ProtCh=p.L86=;VC=Silent;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:126:78:0:0:15,110,1:513,3753,7:38.55,0.00,-0.35:10.94,0.00,-0.16:27.61,0.00,-0.19:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,56,43:76.7,31.4,49.0:0,0,0:0,0,0:92,75,82:52,68,69:12,22,0:chr1 g.148344659G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344741 rs61809891 G C 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.766;Gene=NBPF8/NM_001037501.2/1;CC=c.177C>G;ProtCh=p.N59K;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.177C>G;ProtCh=p.N59K;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.177C>G;ProtCh=p.N59K;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:20:0:0:25,26:761,888:72.64,0.00:13.12,0.00:59.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,55:71.4,3.3:0,0:0,0:139,109:11,35:7,24:chr1 g.148344740G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344843 . C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;NP=1676;Gene=NBPF8/NM_001037501.2/1;CC=c.176-101G>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.176-101G>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.176-101G>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:14:1:0:0:11,3:377,88:0.00,7.07:0.00,-0.05:0.00,7.13:0.00,0.56:0.00,0.48:0.00,0.56:40,29:18.5,144.3:0,0:0,0:88,70:63,80:32,17:-,chr1 g.148344842C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148344858 . G C 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;NP=36;PC=0.006;Gene=NBPF8/NM_001037501.2/1;CC=c.176-116C>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.176-116C>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.176-116C>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,G:14:1:0:0:3,11:93,347:7.57,0.00:-0.05,0.00:7.63,0.00:0.56,0.00:0.48,0.00:0.56,0.00:29,50:144.3,18.5:0,0:0,0:85,77:65,73:17,26:chr1 g.148344857G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148344864 . A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;NP=7;Gene=NBPF8/NM_001037501.2/1;CC=c.176-122T>C;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.176-122T>C;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.176-122T>C;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G:14:1:0:0:11,3:342,106:0.00,8.87:0.00,-0.05:0.00,8.93:0.00,0.56:0.00,0.48:0.00,0.56:50,29:18.5,144.3:0,0:0,0:83,91:67,59:26,17:-,chr1 g.148344863A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148344883 . T C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;NP=1;PC=0.007;Gene=NBPF8/NM_001037501.2/1;CC=c.176-141A>G;VC=Intron;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.176-141A>G;VC=Intron;Gene=NBPF9/NM_001277444.1/1;CC=c.176-141A>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:10:0:0:0:3,7:105,228:9.28,0.00:0.00,0.00:9.28,0.00:0.62,0.00:0.00,0.00:0.62,0.00:40,50:35.0,60.3:0,0:0,0:93,98:57,53:0,5:chr1 g.148344882T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148346595 rs9442116 C T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.9982,C/0.001797;PC=0.210;Gene=NBPF8/NM_001037501.2/1;CC=c.162G>A;ProtCh=p.Q54=;VC=Silent;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.162G>A;ProtCh=p.Q54=;VC=Silent;Gene=NBPF9/NM_001277444.1/1;CC=c.162G>A;ProtCh=p.Q54=;VC=Silent;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,C,T:57:50:0:0:1,50,6:10,1646,167:-0.23,0.00,11.38:-0.30,0.00,10.51:0.07,0.00,0.87:0.00,0.00,0.83:0.00,0.00,0.98:0.00,0.00,0.80:58,60,42:58.0,9.8,122.5:0,0,0:0,0,0:33,57,8:112,91,134:0,28,4:-,chr1 g.148346594C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148346596 rs587753227 T C 12 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.395;Gene=NBPF8/NM_001037501.2/1;CC=c.161A>G;ProtCh=p.Q54R;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.161A>G;ProtCh=p.Q54R;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.161A>G;ProtCh=p.Q54R;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:C,T:57:49:0:0:5,52:170,1717:12.03,0.00:11.26,0.00:0.77,0.00:0.71,0.00:0.95,0.00:0.73,0.00:42,60:127.6,12.4:0,0:0,0:5,56:136,90:0,26:chr1 g.148346595T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148346627 rs9442115 C G 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=206;Gene=NBPF8/NM_001037501.2/1;CC=c.130G>C;ProtCh=p.V44L;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.130G>C;ProtCh=p.V44L;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.130G>C;ProtCh=p.V44L;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:72:62:0:0:58,14:1920,473:0.00,38.59:0.00,33.55:0.00,5.03:0.00,1.00:0.00,1.00:0.00,0.99:60,56:22.2,83.6:0,0:0,0:63,28:81,115:27,8:-,chr1 g.148346626C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148346633 . A T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;NP=23;PC=0.017;Gene=NBPF8/NM_001037501.2/1;CC=c.124T>A;ProtCh=p.C42S;VC=Missense;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF14/NM_015383.2/1;CC=c.124T>A;ProtCh=p.C42S;VC=Missense;Gene=NBPF9/NM_001277444.1/1;CC=c.124T>A;ProtCh=p.C42S;VC=Missense;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,T:77:67:0:0:68,9:2185,311:0.00,23.34:0.00,19.72:0.00,3.63:0.00,0.97:0.00,1.00:0.00,0.91:60,56:24.7,97.1:0,0:0,0:64,41:82,105:35,10:-,chr1 g.148346632A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148346783 rs9442114 A G 110 nt VT=SNV;PN=G;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.9886,A/0.01138,C/.,T/.;NP=469;Gene=NBPF8/NM_001037501.2/1;CC=c.-27T>C;VC=5UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-27T>C;VC=5UTR;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:133:82:0:0:92,1,40:2910,10,1262:0.00,-0.24,110.15:0.00,-0.09,59.56:0.00,-0.15,50.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,22,42:23.3,179.0,69.5:0,0,0:0,0,0:82,67,93:66,66,57:30,0,41:-,chr1 g.148346782A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148346785 rs3896058 T C 117 nt VT=SNV;PN=G;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=444;PC=0.001;Gene=NBPF8/NM_001037501.2/1;CC=c.-29A>G;VC=5UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-29A>G;VC=5UTR;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:134:83:0:0:43,91:1326,2654:116.59,0.00:67.49,0.00:49.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,42:72.4,22.2:0,0:0,0:89,82:60,64:41,31:chr1 g.148346784T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148346845 rs376229703 A C 21 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=17;PC=0.002;Gene=NBPF8/NM_001037501.2/1;CC=c.-89T>G;VC=5UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-36+44T>G;VC=Intron;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,C:110:70:0:0:100,10:3132,312:0.00,21.48:0.00,23.38:0.00,-1.91:0.00,0.98:0.00,0.99:0.00,0.97:53,40:26.6,93.2:0,0:0,0:87,100:63,50:36,33:-,chr1 g.148346844A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148346888 . C A 18 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=105;NP=8;PC=0.047;Gene=NBPF8/NM_001037501.2/1;CC=c.-132G>T;VC=5UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-36+1G>T;VC=SpliceSiteUTR;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,C:105:67:0:0:9,96:274,3044:18.43,0.00:17.70,0.00:0.74,0.00:0.96,0.00:0.98,0.00:0.95,0.00:40,60:100.0,16.0:0,0:0,0:33,79:118,69:17,40:chr1 g.148346887C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148346893 rs61809896 C T 21 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=6;PC=0.044;Gene=NBPF8/NM_001037501.2/1;CC=c.-137G>A;VC=5UTR;Gene=NBPF8/NR_102404.1/0;VC=NonCoding;Gene=NBPF8/NR_102405.1/0;VC=NonCoding;Gene=NBPF9/NM_001277444.1/1;CC=c.-40G>A;VC=5UTR;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,C,G,T:108:70:0:0:1,96,1,10:11,3138,29,307:-0.26,0.00,0.97,21.17:-0.21,0.00,1.14,20.10:-0.05,0.00,-0.16,1.07:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.96:51,60,4,51:156.0,13.9,120.0,88.5:0,0,0,0:0,0,0,0:0,77,55,35:137,69,65,115:0,40,0,19:-,chr1 g.148346892C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148346958 rs9441131 A G 179 nt VT=SNV;PN=C;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=72;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:141:100:0:0:79,62:2475,1918:0.00,179.23:0.00,121.35:0.00,57.88:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.7,48.2:0,0:0,0:73,34:72,116:37,18:-,chr1 g.148346957A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148347249 rs370201311 A C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=38;PC=0.002;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,C,T:35:0:0:0:28,6,1:871,183,12:0.00,14.30,-0.00:0.00,0.00,0.00:0.00,14.30,-0.00:0.00,0.89,0.00:0.00,0.00,0.00:0.00,0.89,0.00:40,40,40:5.5,37.7,62.0:0,0,0:0,0,0:88,120,23:62,30,128:39,14,0:-,chr1 g.148347248A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148356550 rs61809951 C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5234,T/0.4766;NP=759;PC=0.182;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:6:0:0:0:3,3:95,85:0.00,8.12:0.00,0.00:0.00,8.12:0.00,0.73:0.00,0.00:0.00,0.73:56,43:11.7,107.3:0,0:0,0:117,79:34,72:7,6:-,chr1 g.148356549C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148555992 . C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;PC=0.034;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:5:5:0:0:1,4:33,139:0.00,14.72:0.00,14.72:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:55,40:0.0,190.0:0,0:0,0:53,65:98,71:0,18:-,NM_001170755.1(NBPF15) c.-1162-u2196C>T:-,NOT_FOUND:-,NOT_FOUND 1 148556002 . G C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,G:5:5:0:0:4,1:133,32:14.12,0.00:14.12,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:40,55:190.0,0.0:0,0:0,0:75,63:61,88:18,0:NM_001170755.1(NBPF15) c.-1162-u2186G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148556007 . G A 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;PC=0.004;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:5:5:0:0:4,1:137,34:14.52,0.00:14.52,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:40,55:190.0,0.0:0,0:0,0:80,68:56,83:18,0:NM_001170755.1(NBPF15) c.-1162-u2181G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148556019 rs75697418 G T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T:5:5:0:0:1,4:34,132:0.00,14.02:0.00,12.23:0.00,1.79:0.00,0.96:0.00,0.96:0.00,0.87:55,40:0.0,190.0:0,0:0,0:80,92:71,44:0,18:-,NM_001170755.1(NBPF15) c.-1162-u2169G>T:-,0.16:-,NOT_FOUND 1 148556027 rs200499343 G GC 7 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;PC=0.003;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GC:5:5:4:0:1,4:34,67:0.00,7.06:0.00,5.52:0.00,1.54:0.00,0.96:0.00,0.96:0.00,0.87:55,40:0.0,174.8:0,0:0,0:88,81:63,46:0,25:-,NM_001170755.1(NBPF15) c.-1162-u2161_-1162-u2160insC:-,NOT_FOUND:-,NOT_FOUND 1 148556066 rs75385324 G A 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.057;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:6:4:0:0:4,2:122,67:12.45,0.00:5.05,0.00:7.40,0.00:0.93,0.00:0.99,0.00:0.91,0.00:40,55:158.2,0.0:0,0:0,0:82,80:60,70:39,46:NM_001170755.1(NBPF15) c.-1162-u2122G>A,-:0.07,-:NOT_FOUND,- 1 148556070 rs200556285 C T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5;PC=0.029;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:6:4:0:0:2,4:70,112:0.00,11.40:0.00,3.90:0.00,7.50:0.00,0.93:0.00,0.99:0.00,0.91:55,40:0.0,158.2:0,0:0,0:84,86:66,56:46,39:-,NM_001170755.1(NBPF15) c.-1162-u2118C>T:-,NOT_FOUND:-,NOT_FOUND 1 148560580 rs61812360 T C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-1063-267T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:32:C,T:4:4:0:0:2,2:68,32:6.56,0.00:6.56,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:27,59:63.0,45.0:0,0:0,0:94,58:56,74:16,16:NM_001170755.1(NBPF15) c.-1063-267T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148560915 rs587629671 G A 129 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=2;PC=0.004;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-995G>A;VC=5UTR;Gene=NBPF15/NM_173638.4/0;CC=c.-564G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:82:72:0:0:42,1,39:1337,11,1167:129.34,-0.06,0.00:93.24,-0.16,0.00:36.10,0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,40,42:44.6,187.0,13.3:0,0,0:0,0,0:58,121,59:93,15,89:27,0,21:NM_001170755.1(NBPF15) c.-995G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148561224 rs80145367 G A 64 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=30;PC=0.063;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-795+109G>A;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.-364+109G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:22:0:0:25,46:723,1507:64.15,0.00:14.72,0.00:49.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:27,60:83.6,13.7:0,0:0,0:73,107:77,43:17,30:NM_001170755.1(NBPF15) c.-795+109G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148561261 rs74124144 G A 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=176;PC=0.004;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-795+146G>A;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.-364+146G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:9:0:0:25,33:850,1036:79.73,0.00:14.56,0.00:65.17,0.00:1.00,0.00:0.99,0.00:1.00,0.00:27,60:89.8,12.9:0,0:0,0:99,117:50,34:14,17:NM_001170755.1(NBPF15) c.-795+146G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148561313 rs73002826 C T 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-795+198C>T;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.-364+198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:11,10:290,316:0.00,30.09:0.00,0.00:0.00,30.09:0.00,1.00:0.00,0.00:0.00,1.00:60,27:25.0,113.4:0,0:0,0:97,139:54,11:31,4:-,NM_001170755.1(NBPF15) c.-795+198C>T:-,NOT_FOUND:-,NOT_FOUND 1 148568904 rs199972485 G C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-622+27G>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.-191+27G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:8:7:0:0:3,5:104,167:9.53,0.00:9.74,0.00:-0.20,0.00:0.67,0.00:0.95,0.00:0.58,0.00:36,27:34.7,4.8:0,0:0,0:66,118:85,32:9,26:NM_001170755.1(NBPF15) c.-622+27G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148569026 rs530834 C G 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=78;PC=0.335;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-622+149C>G;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.-191+149C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,G:8:0:0:0:5,3:133,86:0.00,7.74:0.00,0.00:0.00,7.74:0.00,0.67:0.00,0.00:0.00,0.67:27,23:18.0,55.3:0,0:0,0:58,80:89,70:7,2:-,NM_001170755.1(NBPF15) c.-622+149C>G:-,NOT_FOUND:-,NOT_FOUND 1 148569172 rs61812370 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=23;PC=0.013;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-622+295G>A;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.-191+295G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:6:0:0:0:3,3:96,91:9.23,0.00:0.00,0.00:9.23,0.00:0.73,0.00:0.00,0.00:0.73,0.00:46,36:36.7,22.7:0,0:0,0:134,102:17,48:6,1:NM_001170755.1(NBPF15) c.-622+295G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148577379 . C T 91 nt VT=SNV;PN=C;NN=A;SST=Single;DP=66;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.-169C>T;VC=5UTR;Gene=NBPF15/NM_173638.4/0;CC=c.-169C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:49:0:0:37,29:1223,967:0.00,90.89:0.00,58.09:0.00,32.80:0.00,1.00:0.00,1.00:0.00,1.00:49,52:2.0,39.2:0,0:0,0:72,80:77,70:27,20:-,NM_001170755.1(NBPF15) c.-169C>T:-,NOT_FOUND:-,NOT_FOUND 1 148579625 rs9438309 T C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.195T>C;ProtCh=p.D65=;VC=Silent;Gene=NBPF15/NM_173638.4/0;CC=c.195T>C;ProtCh=p.D65=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:34:29:0:0:4,30:134,943:9.96,0.00:7.48,0.00:2.49,0.00:0.62,0.00:0.92,0.00:0.74,0.00:40,50:74.8,17.4:0,0:0,0:12,40:139,109:2,26:NM_001170755.1(NBPF15) c.195T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 148579636 rs200012164 T C 28 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.206T>C;ProtCh=p.F69S;VC=Missense;Gene=NBPF15/NM_173638.4/0;CC=c.206T>C;ProtCh=p.F69S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:32:0:0:10,28:327,788:27.99,0.00:26.15,0.00:1.84,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,50:43.4,21.1:0,0:0,0:71,28:79,118:36,11:NM_001170755.1(NBPF15) c.206T>C (p.Phe69Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 148582481 rs202133347 A G 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=NA;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.715A>G;ProtCh=p.T239A;VC=Missense;Gene=NBPF15/NM_173638.4/0;CC=c.715A>G;ProtCh=p.T239A;VC=Missense;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:51:0:0:62,11:1888,353:0.00,27.16:0.00,8.52:0.00,18.64:0.00,0.99:0.00,1.00:0.00,1.00:42,40:5.2,63.2:0,0:0,0:54,22:96,123:21,6:-,NM_001170755.1(NBPF15) c.715A>G (p.Thr239Ala):-,NOT_FOUND:-,NOT_FOUND 1 148588859 . G C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.989-135G>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.989-135G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,G:35:35:0:0:7,28:241,840:19.85,0.00:19.85,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:20,25:40.9,27.9:0,0:0,0:12,62:139,88:11,31:NM_001170755.1(NBPF15) c.989-135G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148588891 . C T 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=52;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.989-103C>T;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.989-103C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:52:0:0:37,15:1199,485:0.00,42.10:0.00,42.10:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:24,21:19.1,74.1:0,0:0,0:48,23:101,127:37,13:-,NM_001170755.1(NBPF15) c.989-103C>T:-,NOT_FOUND:-,NOT_FOUND 1 148588954 . ACTG A 14 nt VT=DEL;SST=Single;DP=104;PC=0.029;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.989-37_989-35delGCT;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.989-37_989-35delGCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:ACTG,A:104:95:0:15:89,15:2849,242:0.00,13.68:0.00,11.19:0.00,2.49:0.00,1.00:0.00,1.00:0.00,0.97:40,40:27.7,19.6:0,0:0,0:39,54:112,97:26,42:-,NM_001170755.1(NBPF15) c.989-39_989-37delCTG:-,NOT_FOUND:-,NOT_FOUND 1 148588978 . C A 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=103;PC=0.030;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.989-16C>A;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.989-16C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:103:91:0:0:29,74:930,2523:80.24,0.00:56.35,0.00:23.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:51.2,12.9:0,0:0,0:52,48:99,102:18,17:NM_001170755.1(NBPF15) c.989-16C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148589122 . C T 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=64;PC=0.732;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1040+77C>T;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1040+77C>T;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:64:3:0:0:56,8:1841,226:0.00,16.00:0.00,-0.15:0.00,16.15:0.00,0.95:0.00,0.38:0.00,1.00:27,21:16.5,47.8:0,0:0,0:105,110:45,40:27,12:-,NM_001170755.1(NBPF15) c.1040+77C>T:-,NOT_FOUND:-,NOT_FOUND 1 148589163 rs368731311 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1040+118T>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1040+118T>C;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,T:37:2:0:0:8,29:234,952:18.83,0.00:-0.21,0.00:19.04,0.00:0.98,0.00:0.49,0.00:1.00,0.00:23,40:29.2,23.2:0,0:0,0:131,120:20,31:14,22:NM_001170755.1(NBPF15) c.1040+118T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148589437 . CTG C 8 rn VT=DEL;SST=Single;DP=40;NP=9;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1041-190_1041-189delGT;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1041-190_1041-189delGT;VC=Intron;DM=NBPF15/DUF1220;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:CTG,C:39:39:0:7:33,6:1098,147:0.00,8.21:0.00,8.28:0.00,-0.07:0.00,0.88:0.00,0.99:0.00,0.43:53,21:36.8,37.5:0,1:0,0:54,44:94,101:33,15:-,NM_001170755.1(NBPF15) c.1041-223_1041-222delTG:-,NOT_FOUND:-,NOT_FOUND 1 148592379 rs61812430 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.271;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1490+245A>G;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1490+245A>G;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:61:61:0:0:53,8:1618,223:0.00,15.84:0.00,15.87:0.00,-0.03:0.00,0.95:0.00,0.95:0.00,0.42:19,40:38.8,27.9:0,0:0,0:40,28:111,123:21,18:-,NM_001170755.1(NBPF15) c.1490+245A>G:-,NOT_FOUND:-,NOT_FOUND 1 148592423 rs113345075 T C 50 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.035;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1490+289T>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1490+289T>C;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:76:71:0:0:19,1,56:590,6,1753:49.65,-0.28,0.00:50.40,-0.24,0.00:-0.75,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.84,0.00,0.00:13,1,49:88.3,62.0,20.6:0,0,0:0,0,0:73,129,61:75,19,89:18,0,25:NM_001170755.1(NBPF15) c.1490+289T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148592428 rs200276981 A C 49 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.031;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1490+294A>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1490+294A>C;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:76:71:0:0:55,20,1:1756,588,12:0.00,49.47,-0.12:0.00,50.33,-0.08:0.00,-0.86,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.88,0.00:49,13,6:19.9,87.0,80.0:0,0,0:0,0,0:68,85,120:83,64,31:25,24,0:-,NM_001170755.1(NBPF15) c.1490+294A>C:-,NOT_FOUND:-,NOT_FOUND 1 148592534 rs61812431 G C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1491-257G>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1491-257G>C;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:C,G:24:17:0:1:6,18:186,550:15.61,0.00:6.35,0.00:9.26,0.00:0.92,0.00:0.98,0.00:0.87,0.00:42,49:35.8,50.6:0,1:0,0:116,129:29,21:12,11:NM_001170755.1(NBPF15) c.1491-257G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148592546 rs200875354 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=39;PC=0.005;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1491-245C>G;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1491-245C>G;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,G:22:17:0:0:16,6:501,181:0.00,15.36:0.00,10.95:0.00,4.42:0.00,0.93:0.00,0.99:0.00,0.83:42,40:30.6,95.0:0,0:0,0:125,125:18,18:18,15:-,NM_001170755.1(NBPF15) c.1491-245C>G:-,NOT_FOUND:-,NOT_FOUND 1 148592595 . T C 9 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1491-196T>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1491-196T>C;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:10:9:0:0:4,6:104,159:9.39,0.00:9.72,0.00:-0.33,0.00:0.84,0.00:0.98,0.00:0.70,0.00:14,34:69.0,83.0:0,1:0,0:10,65:140,86:4,11:NM_001170755.1(NBPF15) c.1491-196T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148592695 rs201817374 T C 201 nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1491-96T>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1491-96T>C;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:71:62:0:0:56,1,14:1896,29,412:201.12,1.45,0.00:177.70,1.46,0.00:23.43,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,13,40:76.4,208.0,13.4:0,0,0:0,0,0:48,9,24:101,142,126:20,0,23:NM_001170755.1(NBPF15) c.1491-96T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148592747 rs199620593 C G 231 nt VT=SNV;PN=T;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=NA;NP=4;PC=0.005;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1491-44C>G;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1491-44C>G;VC=Intron;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:129:92:0:0:53,75,1:1708,2329,12:0.00,230.69,-0.05:0.00,182.58,-0.12:0.00,48.11,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,6:23.7,72.7,61.0:0,0,0:0,0,0:25,85,19:126,64,131:12,30,0:-,NM_001170755.1(NBPF15) c.1491-44C>G:-,NOT_FOUND:-,NOT_FOUND 1 148592807 rs200657095 C G 136 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=220;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1507C>G;ProtCh=p.L503V;VC=Missense;Gene=NBPF15/NM_173638.4/0;CC=c.1507C>G;ProtCh=p.L503V;VC=Missense;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:220:164:0:0:164,54,2:5232,1627,22:0.00,135.54,-0.41:0.00,128.41,-0.21:0.00,7.14,-0.20:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,19,13:27.2,60.5,140.0:0,0,0:0,0,0:55,36,133:95,114,17:30,24,12:-,NM_001170755.1(NBPF15) c.1507C>G (p.Leu503Val):-,NOT_FOUND:-,NOT_FOUND 1 148592814 rs201924497 T C 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=227;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1514T>C;ProtCh=p.V505A;VC=Missense;Gene=NBPF15/NM_173638.4/0;CC=c.1514T>C;ProtCh=p.V505A;VC=Missense;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,G,T:227:168:0:0:19,1,207:655,29,5708:46.30,0.66,0.00:2.68,0.74,0.00:43.62,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:20,12,40:48.9,29.0,31.4:0,0,0:0,0,0:83,51,50:67,100,101:12,0,31:NM_001170755.1(NBPF15) c.1514T>C (p.Val505Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 148592917 . T G 81 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=183;NP=1;PC=0.012;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1617T>G;ProtCh=p.F539L;VC=Missense;Gene=NBPF15/NM_173638.4/0;CC=c.1617T>G;ProtCh=p.F539L;VC=Missense;DM=NBPF15/DUF1220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:183:147:0:0:1,32,150:12,1025,4668:-0.24,81.10,0.00:-0.26,67.52,0.00:0.02,13.58,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:13,15,27:38.0,50.6,17.3:0,0,0:0,0,0:1,111,106:148,39,44:0,26,21:NM_001170755.1(NBPF15) c.1617T>G (p.Phe539Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 148592992 rs61812433 G C 464 nt VT=SNV;PN=G;NN=A;SST=Single;DP=184;DB;DBA=NA;PAF=C/0.8097,G/0.1903;NP=2;PC=0.030;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1663+29G>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1663+29G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:184:14:0:0:138,46:4432,1353:463.83,0.00:27.56,0.00:436.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:100.7,15.1:6,0:0,0:45,66:105,84:15,21:NM_001170755.1(NBPF15) c.1663+29G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148593035 rs61812434 T G 618 idl;mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=239;DB;DBA=NA;PAF=NA;NP=4;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1663+72T>G;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1663+72T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:239:0:0:0:2,182,55:18,5875,1621:-0.06,618.42,0.00:0.00,0.00,0.00:-0.06,618.42,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:4,18,40:78.5,94.5,18.0:0,13,2:0,0,0:84,69,99:52,81,52:30,27,30:NM_001170755.1(NBPF15) c.1663+72T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148593062 rs61812435 A G 570 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=237;DB;DBA=NA;PAF=NA;PC=0.945;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1663+99A>G;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1663+99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:237:0:0:0:66,170,1:2089,5503,11:0.00,570.50,-0.06:0.00,0.00,0.00:0.00,570.50,-0.06:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:40,19,40:32.4,97.6,28.0:0,0,0:0,0,0:107,94,140:43,56,11:23,31,0:-,NM_001170755.1(NBPF15) c.1663+99A>G:-,NOT_FOUND:-,NOT_FOUND 1 148593178 . G A 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;PC=0.002;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1663+215G>A;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1663+215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G:30:0:0:0:7,23:208,775:17.06,0.00:0.00,0.00:17.06,0.00:0.95,0.00:0.00,0.00:0.95,0.00:25,40:92.7,7.0:0,0:0,0:141,58:9,91:6,42:NM_001170755.1(NBPF15) c.1663+215G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148593368 . T C 6 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;PC=0.007;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=NBPF15/NM_001170755.2/1;CC=c.1664-310T>C;VC=Intron;Gene=NBPF15/NM_173638.4/0;CC=c.1664-310T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:7:0:0:0:2,5:72,133:6.35,0.00:0.00,0.00:6.35,0.00:0.39,0.00:0.00,0.00:0.39,0.00:13,14:36.0,48.8:0,0:0,0:90,87:60,64:14,12:NM_001170755.1(NBPF15) c.1664-310T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148598723 . C T 72 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;NP=12;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:41:41:0:0:17,1,23:550,10,733:0.00,0.03,72.43:0.00,0.05,72.97:0.00,-0.02,-0.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.92:42,24,25:9.1,121.0,44.0:0,0,0:0,0,0:58,48,33:93,84,116:36,0,17:-,chr1 g.148598722C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148598976 . ATG A 16 nt VT=DEL;SST=Single;DP=36;PC=0.014;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:ATG,G,A:36:0:0:8:27,1,8:818,34,200:0.00,1.99,15.66:0.00,0.00,0.00:0.00,1.99,15.66:0.00,0.00,0.98:0.00,0.00,0.00:0.00,0.00,0.98:42,25,27:20.4,34.0,5.8:0,0,0:0,0,0:103,126,119:47,24,31:29,0,13:-,chr1 g.148598977_148598978delTG (intergenic):-,0.03:-,NOT_FOUND 1 148605146 . A C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;PC=0.004;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,C:19:6:0:1:14,5:322,97:0.00,7.35:0.00,2.00:0.00,5.35:0.00,0.86:0.00,0.82:0.00,0.97:50,39:44.6,89.4:4,2:0,0:78,62:41,58:44,10:-,chr1 g.148605145A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148644408 rs594576 A G 871 lc VT=SNV;PN=A;NN=T;SST=Single;DP=576;DB;DBA=NA;PAF=NA;NP=1347;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:576:388:0:0:292,4,277,3:9330,59,9103,38:0.00,0.44,871.06,-0.20:0.00,0.57,478.81,-0.31:0.00,-0.13,392.25,0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:41,42,42,25:5.8,73.8,41.6,90.0:0,0,0,0:0,0,0,0:68,39,68,78:82,104,81,73:32,27,33,18:-,NM_001144032.1(PPIAL4E) c.323A>G (p.Asn108Ser):-,NOT_FOUND:-,NOT_FOUND 1 148644581 . T . . NT END=148806089;NT GT ./. 1 148751438 . T A,C 11 end;mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;NP=4;PC=0.049 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:4:4:0:0:1,3:10,100:0.88,11.06:0.88,11.06:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:11,18:133.0,146.0:0,0:0,0:28,5:83,146:0,2:NM_001102663.1(NBPF16) c.1041-271T>A,NM_001102663.1(NBPF16) c.1041-271T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148751481 . C G 11 end;mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;NP=7;PC=0.105;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,G,D:12:9:0:2:5,5,2:172,122,16:0.00,11.49,0.69:0.00,7.33,0.28:0.00,4.16,0.41:0.00,0.92,0.00:0.00,0.98,0.00:0.00,0.89,0.00:53,18,9:108.6,105.6,0.0:0,0,0:0,0,0:46,1,12:105,148,137:29,1,8:-,NM_001102663.1(NBPF16) c.1041-228C>G:-,NOT_FOUND:-,NOT_FOUND 1 148751528 . T G 8 sb;mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;NP=30;PC=0.589;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:G,T:19:15:0:0:8,11:103,351:8.17,0.00:9.24,0.00:-1.07,0.00:0.99,0.00:1.00,0.00:0.93,0.00:7,57:120.6,64.5:0,0:0,0:50,58:96,86:2,14:NM_001102663.1(NBPF16) c.1041-181T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148751550 rs369165032 C A 11 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.770;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,C,T:20:16:0:0:5,14,1:135,440,9:11.13,0.00,-0.01:11.69,0.00,0.09:-0.56,0.00,-0.10:0.85,0.00,0.00:0.75,0.00,0.00:0.75,0.00,0.00:7,53,4:140.0,64.2,137.0:0,0,0:0,0,0:74,75,20:71,71,131:4,12,0:NM_001102663.1(NBPF16) c.1041-159C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148751640 . A T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;PC=0.943;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,T:7:3:0:0:4,3:101,98:0.00,9.17:0.00,6.39:0.00,2.78:0.00,0.69:0.00,0.83:0.00,0.89:18,22:67.0,58.7:0,0:0,0:85,39:65,108:39,12:-,NM_001102663.1(NBPF16) c.1041-69A>T:-,NOT_FOUND:-,NOT_FOUND 1 148751653 . A G 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;NP=33;PC=0.136;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,G:7:3:0:0:1,6:33,179:0.00,19.46:0.00,8.37:0.00,11.09:0.00,1.00:0.00,1.00:0.00,1.00:9,22:0.0,75.0:0,0:0,0:74,48:76,100:0,25:-,NM_001102663.1(NBPF16) c.1041-56A>G:-,NOT_FOUND:-,NOT_FOUND 1 148751738 rs200104878 A G 8 sb;mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=75;PC=0.898;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:24:15:0:0:19,5:595,114:0.00,8.47:0.00,-1.52:0.00,9.99:0.00,0.83:0.00,0.94:0.00,0.83:22,14:24.7,52.2:0,0:0,0:39,51:111,97:32,26:-,NM_001102663.1(NBPF16) c.1070A>G (p.Glu357Gly):-,NOT_FOUND:-,NOT_FOUND 1 148751838 rs587622770 C T 8 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.257;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:22:14:0:0:19,3:567,104:0.00,8.03:0.00,-0.89:0.00,8.92:0.00,0.48:0.00,0.80:0.00,0.64:19,7:18.1,65.0:0,0:0,0:107,100:44,50:19,6:-,NM_001102663.1(NBPF16) c.1170C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 148751869 . A G 23 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;PC=0.099;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G:15:9:0:0:7,8:182,241:0.00,23.44:0.00,13.72:0.00,9.72:0.00,1.00:0.00,1.00:0.00,0.98:19,17:8.7,43.2:0,0:0,0:106,136:45,14:13,3:-,NM_001102663.1(NBPF16) c.1201A>G (p.Ile401Val):-,NOT_FOUND:-,NOT_FOUND 1 148751983 . C T 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;PC=0.985;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,T:23:0:0:0:6,17:177,564:0.00,58.82:0.00,0.00:0.00,58.82:0.00,1.00:0.00,0.00:0.00,1.00:18,22:29.2,72.3:0,0:0,0:33,35:117,115:7,14:-,NM_001102663.1(NBPF16) c.1213+102C>T:-,NOT_FOUND:-,NOT_FOUND 1 148752039 . A C 7 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;PC=0.676;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,C:24:0:0:0:21,3:595,93:0.00,6.82:0.00,0.00:0.00,6.82:0.00,0.47:0.00,0.00:0.00,0.47:22,18:61.7,47.0:0,0:0,0:89,89:62,61:14,4:-,NM_001102663.1(NBPF16) c.1213+158A>C:-,NOT_FOUND:-,NOT_FOUND 1 148752069 rs199976719 A G 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.488;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,G:22:0:0:0:6,16:180,477:0.00,49.71:0.00,0.00:0.00,49.71:0.00,1.00:0.00,0.00:0.00,1.00:18,22:34.5,74.7:0,0:0,0:117,119:33,31:5,12:-,NM_001102663.1(NBPF16) c.1213+188A>G:-,NOT_FOUND:-,NOT_FOUND 1 148753137 rs370416485 A T 164 nt VT=SNV;PN=G;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=1;PC=0.997;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C,T:47:47:0:0:1,46:11,1422:0.23,163.66:0.23,163.66:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:15,27:91.0,36.2:0,0:0,0:109,41:8,109:0,34:NM_001102663.1(NBPF16) c.1266-112A>T,NM_001102663.1(NBPF16) c.1266-112A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148754319 rs587694432 GT G 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:4:4:92:11.07:11.07:0.00:1.00:1.00:0.00:40:7.0:0:0:16:134:5:NM_001102663.1(NBPF16) c.1490+138delT,NM_001102663.1(NBPF16) c.1490+138delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148754471 rs4058797 T C 153 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=45;PC=0.524;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:39:0:0:42:1332:153.20:135.70:17.50:1.00:1.00:1.00:40:72.0:0:0:43:103:25:NM_001102663.1(NBPF16) c.1490+289T>C,NM_001102663.1(NBPF16) c.1490+289T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148754476 rs61810653 A C 149 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=43;PC=0.518;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:38:0:0:41:1298:149.33:132.53:16.80:1.00:1.00:1.00:40:71.6:0:0:50:97:27:NM_001102663.1(NBPF16) c.1490+294A>C,NM_001102663.1(NBPF16) c.1490+294A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148754570 rs368342545 TTCTCTCTCTCTCTC T 24 idl,nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.375;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTCTCTCTCTCTCTC,T:44:42:0:23:30,14:932,439:0.00,23.85:0.00,20.60:0.00,3.25:0.00,1.00:0.00,1.00:0.00,0.97:45,40:46.8,75.4:14,8:0,0:82,107:65,43:49,12:-,NM_001102663.1(NBPF16) c.1491-264_1491-251delTCTCTCTCTCTCTC:-,NOT_FOUND:-,NOT_FOUND 1 148754574 . CTCTCTCTCTCTCTCTGTG C 13 idl,nt VT=DEL;SST=Single;DP=30;PC=0.358;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:CTCTCTCTCTCTCTCTGTG,C:21:23:0:39:15,6:482,380:0.00,13.32:0.00,6.37:0.00,6.95:0.00,0.90:0.00,0.98:0.00,0.82:40,45:71.7,53.5:2,9:0,0:136,57:6,88:9,14:-,NM_001102663.1(NBPF16) c.1491-260_1491-243delTCTCTCTCTCTCTCTGTG:-,NOT_FOUND:-,NOT_FOUND 1 148754588 rs144242942 C G 11 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=54;PC=0.366;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,G:31:25:0:17:27,4:869,138:0.00,10.53:0.00,10.90:0.00,-0.36:0.00,0.64:0.00,0.92:0.00,0.54:40,40:56.1,50.5:19,3:0,0:99,68:46,82:25,19:-,NM_001102663.1(NBPF16) c.1491-247C>G:-,NOT_FOUND:-,NOT_FOUND 1 148754689 . C A 165 nt VT=SNV;PN=A;NN=A;SST=Single;DP=309;NP=1;PC=0.915;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:309:288:0:0:66,243:2026,7722:164.56,0.00:160.42,0.00:4.14,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,40:110.6,61.2:0,0:0,0:30,28:120,121:18,17:NM_001102663.1(NBPF16) c.1491-146C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148754726 rs139736757 A C 824 nt VT=SNV;PN=T;NN=T;SST=Single;DP=573;DB;DBA=NA;PAF=NA;NP=96;PC=0.999;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:573:542:0:0:298,268,5,2:8532,8654,53,24:0.00,823.66,-0.62,-0.28:0.00,771.62,-0.56,-0.26:0.00,52.04,-0.06,-0.02:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,40,40,24:56.3,92.4,100.8,64.5:0,0,0,0:0,0,0,0:37,38,72,90:113,112,79,60:23,24,11,60:-,NM_001102663.1(NBPF16) c.1491-109A>C:-,NOT_FOUND:-,NOT_FOUND 1 148754739 rs201851052 T C 271 nt VT=SNV;PN=T;NN=T;SST=Single;DP=655;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:655:613:0:0:106,2,547:3455,48,17272:270.51,0.43,0.00:267.89,0.48,0.00:2.61,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,15,40:77.1,192.5,71.6:0,0,0:0,0,0:48,49,44:103,99,107:23,8,25:NM_001102663.1(NBPF16) c.1491-96T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148754741 rs144937415 T C 1600 nt VT=SNV;PN=T;NN=A;SST=Single;DP=658;DB;DBA=NA;PAF=NA;NP=106;PC=0.999;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:658:615:0:0:466,2,190:15491,29,5886:1600.05,0.02,0.00:1480.95,0.03,0.00:119.10,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,40:78.0,189.5,58.8:0,0,0:0,0,0:44,53,46:105,90,102:24,5,25:NM_001102663.1(NBPF16) c.1491-94T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148754791 rs201212354 C G 235 nt VT=SNV;PN=T;NN=T;SST=Single;DP=628;DB;DBA=NA;PAF=NA;NP=90;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:628:585:0:0:528,99,1:17061,3063,8:0.00,235.18,-0.45:0.00,231.87,-0.41:0.00,3.31,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,1:69.8,79.2,31.0:0,0,0:0,0,0:87,94,43:63,55,108:22,19,0:-,NM_001102663.1(NBPF16) c.1491-44C>G:-,NOT_FOUND:-,NOT_FOUND 1 148754858 rs4098116 T C 1010 nt VT=SNV;PN=G;NN=A;SST=Single;DP=409;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=43;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:409:244:0:0:1,303,1,104:30,9665,11,2992:0.75,1010.24,-0.06,0.00:-0.04,575.08,-0.01,0.00:0.79,435.16,-0.05,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:12,40,13,40:189.0,85.4,92.0,55.5:0,0,0,0:0,0,0,0:43,127,134,33:107,24,17,117:0,15,0,25:NM_001102663.1(NBPF16) c.1514T>C (p.Val505Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 148754897 rs61811502 A G 1599 nt VT=SNV;PN=T;NN=T;SST=Single;DP=437;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.997;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:437:11:0:0:6,1,428,2:68,10,14066,35:0.00,0.02,1598.80,0.80:0.00,-0.00,11.39,-0.01:0.00,0.02,1587.41,0.81:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:23,24,38,13:71.2,108.0,76.3,178.5:0,0,0,0:0,0,0,0:109,59,39,72:41,92,111,76:19,0,27,5:NM_001102663.1(NBPF16) c.=,NM_001102663.1(NBPF16) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148754942 rs3969765 A T 1646 nt VT=SNV;PN=C;NN=G;SST=Single;DP=608;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=80;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:608:1:0:0:133,1,474:4371,6,15589:0.00,-0.11,1646.16:0.00,-0.00,-0.33:0.00,-0.11,1646.48:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:40,15,40:49.2,79.0,74.1:0,0,0:0,0,0:85,30,65:66,120,86:27,0,26:-,NM_001102663.1(NBPF16) c.1598A>T (p.Gln533Leu):-,NOT_FOUND:-,NOT_FOUND 1 148755015 . C A 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=384;PC=0.997;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:384:0:0:0:40,334,10:1156,10220,338:79.84,0.00,18.93:0.00,0.00,0.00:79.84,0.00,18.93:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:40,40,40:80.9,55.8,76.0:0,0,0:0,0,0:105,115,105:44,35,44:12,18,14:NM_001102663.1(NBPF16) c.1663+8C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148755036 rs201848887 G C 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=271;DB;DBA=NA;PAF=NA;NP=19;PC=0.997;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,C,G:271:0:0:0:1,25,245:9,781,7993:-0.39,54.17,0.00:0.00,0.00,0.00:-0.39,54.17,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:13,40,40:113.0,70.4,53.2:0,0,0:0,0,0:119,119,128:31,31,23:0,9,13:NM_001102663.1(NBPF16) c.1663+29G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148755079 rs200459480 T G 126 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=8;PC=0.620;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C,G,T:37:0:0:0:1,34,2:10,1129,20:0.21,125.99,0.00:0.00,0.00,0.00:0.21,125.99,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:18,37,19:130.0,56.2,134.0:0,0,0:0,0,0:96,138,83:55,10,59:0,4,19:NM_001102663.1(NBPF16) c.1663+72T>G,NM_001102663.1(NBPF16) c.1663+72T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148755309 . T G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;PC=0.258;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:G,T:6:0:0:0:3,3:79,83:7.51,0.00:0.00,0.00:7.51,0.00:0.73,0.00:0.00,0.00:0.73,0.00:37,36:47.3,91.7:0,0:0,0:83,87:68,64:17,13:NM_001102663.1(NBPF16) c.1663+302T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148756184 . T C 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;PC=0.118;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:C,T:7:7:0:0:3,4:107,108:10.06,0.00:10.06,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:23,40:137.3,91.2:0,0:0,0:48,33:103,113:6,9:NM_001102663.1(NBPF16) c.1770-257T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148756192 rs201501719 G C 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=4;PC=0.117;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:208:24.09:24.09:0.00:1.00:1.00:0.00:40:111.0:0:0:50:100:12:NM_001102663.1(NBPF16) c.1770-249G>C,NM_001102663.1(NBPF16) c.1770-249G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148756204 rs201974043 C G 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=4;PC=0.240;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:192:22.47:22.47:0.00:1.00:1.00:0.00:40:111.0:0:0:62:88:12:NM_001102663.1(NBPF16) c.1770-237C>G,NM_001102663.1(NBPF16) c.1770-237C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148756255 . T A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;PC=0.580;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,T:9:9:0:0:5,4:155,104:15.22,0.00:15.22,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:24,40:132.0,91.2:0,0:0,0:91,104:60,42:34,9:NM_001102663.1(NBPF16) c.1770-186T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148756328 rs587722859 A G 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=21;PC=0.996;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:193:22.59:22.59:0.00:1.00:1.00:0.00:40:146.9:0:0:60:90:22:NM_001102663.1(NBPF16) c.1770-113A>G,NM_001102663.1(NBPF16) c.1770-113A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148756352 rs587599163 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:10:9:0:0:6,4:190,134:0.00,12.39:0.00,7.42:0.00,4.97:0.00,0.84:0.00,0.98:0.00,0.70:40,24:150.0,134.8:0,0:0,0:47,80:102,70:25,42:-,NM_001102663.1(NBPF16) c.1770-89C>T:-,NOT_FOUND:-,NOT_FOUND 1 148756363 rs200632836 A G 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=166;PC=0.989;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G,T:19:14:0:0:17,2:526,32:59.85,2.28:35.41,2.28:24.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,24:125.1,108.0:0,0:0,0:25,128:124,23:19,22:NM_001102663.1(NBPF16) c.1770-78A>G,NM_001102663.1(NBPF16) c.1770-78A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148756365 rs587739981 T G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=15;PC=0.993;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:G,T:18:13:0:0:7,11:179,352:15.99,0.00:10.15,0.00:5.84,0.00:0.98,0.00:0.99,0.00:0.99,0.00:24,41:133.3,119.1:0,0:0,0:34,10:117,139:23,8:NM_001102663.1(NBPF16) c.1770-76T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 148756384 rs587615174 G A 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=479;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,G:23:18:0:0:6,17:197,433:16.85,0.00:12.58,0.00:4.27,0.00:0.92,0.00:0.99,0.00:0.95,0.00:42,42:139.3,95.9:0,0:0,0:24,27:123,121:3,9:NM_001102663.1(NBPF16) c.1770-57G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148756397 rs201181455 C T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=818;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:19:0:0:18,7:553,232:0.00,20.11:0.00,14.60:0.00,5.51:0.00,0.96:0.00,0.99:0.00,0.98:42,41:96.3,138.4:0,0:0,0:34,38:109,107:13,30:-,NM_001102663.1(NBPF16) c.1770-44C>T:-,NOT_FOUND:-,NOT_FOUND 1 148756432 rs141389420 C A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=2565;PC=0.996;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:17:0:0:7,20:242,612:20.84,0.00:10.59,0.00:10.25,0.00:0.96,0.00:0.98,0.00:0.99,0.00:41,42:124.6,99.5:0,0:0,0:71,69:78,79:29,13:NM_001102663.1(NBPF16) c.1770-9C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148756448 rs201036679 G A 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=127;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:15:0:0:20,7:631,233:65.87,0.00:22.84,0.00:43.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,42:100.2,103.9:0,0:0,0:85,58:65,67:13,29:NM_001102663.1(NBPF16) c.1777G>A (p.Gly593Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 148756454 . C G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;NP=8;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:28:16:0:0:19,9:616,260:0.00,22.66:0.00,6.46:0.00,16.20:0.00,0.99:0.00,0.99:0.00,1.00:41,40:97.9,122.2:0,0:0,0:91,28:58,122:9,27:-,NM_001102663.1(NBPF16) c.1783C>G (p.Leu595Val):-,NOT_FOUND:-,NOT_FOUND 1 148756499 rs201435207 A G 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=162;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:16:0:0:13,16:454,498:0.00,48.75:0.00,20.95:0.00,27.80:0.00,1.00:0.00,1.00:0.00,1.00:42,40:88.2,87.7:0,0:0,0:134,43:15,98:8,25:-,NM_001102663.1(NBPF16) c.1828A>G (p.Arg610Gly):-,NOT_FOUND:-,NOT_FOUND 1 148756515 rs74698828 A C 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.995;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A,C:20:9:0:0:1,19:14,548:0.00,62.12:0.00,18.13:0.00,43.99:0.00,1.00:0.00,1.00:0.00,1.00:19,41:90.0,90.6:0,0:0,0:5,71:146,80:0,23:NM_001102663.1(NBPF16) c.1844A>C (p.Gln615Pro),NM_001102663.1(NBPF16) c.1844A>C (p.Gln615Pro):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148756518 rs587717879 C T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=188;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:19:8:0:0:16,3:533,99:0.00,7.73:0.00,-0.37:0.00,8.11:0.00,0.51:0.00,0.70:0.00,0.89:41,40:83.6,98.7:0,0:0,0:57,98:92,52:21,16:-,NM_001102663.1(NBPF16) c.1847C>T (p.Ser616Leu):-,NOT_FOUND:-,NOT_FOUND 1 148756607 rs373485062 G T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=354;PC=0.994;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:G,T:11:4:0:0:7,4:228,133:0.00,12.08:0.00,-0.49:0.00,12.57:0.00,0.82:0.00,0.84:0.00,0.98:40,40:63.9,125.8:0,0:0,0:134,90:17,60:9,16:-,NM_001102663.1(NBPF16) c.1936G>T (p.Val646Leu):-,NOT_FOUND:-,NOT_FOUND 1 148756648 rs587660734 C T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=75;PC=0.999;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:25:124.5:0:0:121:29:9:NM_001102663.1(NBPF16) c.1977C>T (p.(=)),NM_001102663.1(NBPF16) c.1977C>T (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148767219 . G C 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:C,G:11:5:0:0:9,2:269,58:28.88,0.00:9.19,0.00:19.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,15:117.3,47.0:0,0:0,0:28,51:105,81:17,24:chr1 g.148767218G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148767282 . C A 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:A,C:9:3:0:0:7,2:209,47:22.17,0.00:5.09,0.00:17.07,0.00:1.00,0.00:0.99,0.00:1.00,0.00:43,15:122.9,47.0:0,0:0,0:91,114:52,18:17,24:chr1 g.148767281C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148767288 . A C 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,C:9:3:0:0:2,7:59,203:0.00,21.55:0.00,7.59:0.00,13.96:0.00,1.00:0.00,0.99:0.00,1.00:15,40:47.0,131.7:0,0:0,0:120,97:12,46:24,22:-,chr1 g.148767287A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148767331 . A G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;PC=0.005;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,G,D:6:2:0:3:1,2,3:33,69,17:0.00,6.72,1.44:0.00,1.75,0.14:0.00,4.97,1.30:0.00,0.89,0.00:0.00,0.63,0.00:0.00,0.86,0.00:9,43,13:32.0,159.0,107.0:0,0,0:0,0,0:139,130,140:12,20,3:0,7,1:-,chr1 g.148767330A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148806585 . T . . NT END=149224194;NT GT ./. 1 148853499 rs199985877 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;PC=0.032;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:170:19.38:15.31:4.08:1.00:1.00:1.00:40:165.2:0:0:70:80:35:chr1 g.148853498T>C (intergenic),chr1 g.148853498T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148853546 rs528372078 T G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=148;PC=0.115;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:40:177.8:0:0:88:57:30:chr1 g.148853545T>G (intergenic),chr1 g.148853545T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148853629 . T G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;NP=6;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:G,T:12:12:0:0:3,9:107,287:9.21,0.00:9.21,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:23,42:239.7,8.8:0,0:0,0:71,23:80,126:38,19:chr1 g.148853628T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148853631 . A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;NP=161;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,G:12:12:0:0:9,3:292,96:0.00,8.10:0.00,8.10:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:42,23:8.8,239.7:0,0:0,0:25,73:124,78:19,38:-,chr1 g.148853630A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148853688 . G A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,G:20:20:0:0:4,16:138,479:11.36,0.00:11.36,0.00:0.00,0.00:0.71,0.00:0.71,0.00:0.00,0.00:24,42:225.5,17.3:0,0:0,0:67,61:78,89:30,28:chr1 g.148853687G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148853691 rs372282089 C T 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=39;PC=0.002;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,T:20:20:0:0:16,4:507,134:0.00,10.97:0.00,10.97:0.00,0.00:0.00,0.71:0.00,0.71:0.00,0.00:42,24:17.3,225.5:0,0:0,0:64,70:86,75:28,30:-,chr1 g.148853690C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148853697 . C G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;NP=1;PC=0.006;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G:21:21:0:0:17,4:550,128:0.00,10.27:0.00,10.32:0.00,-0.05:0.00,0.70:0.00,0.70:0.00,0.46:42,24:21.2,225.5:0,0:0,0:69,76:82,69:28,30:-,chr1 g.148853696C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148853729 rs367843257 T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=42;PC=0.024;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:28:28:0:0:5,23:143,733:11.00,0.00:11.04,0.00:-0.04,0.00:0.81,0.00:0.81,0.00:0.45,0.00:24,46:192.4,22.0:0,0:0,0:73,47:78,101:46,35:chr1 g.148853728T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148853745 . C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;NP=3;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,T:41:40:0:0:34,7:1068,211:0.00,16.33:0.00,16.49:0.00,-0.16:0.00,0.94:0.00,1.00:0.00,0.48:46,37:31.4,170.6:0,0:0,0:34,14:116,136:26,13:-,chr1 g.148853744C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148853769 . G T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;PC=0.022;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:G,T:50:48:0:0:40,10:1203,255:0.00,19.45:0.00,20.09:0.00,-0.63:0.00,0.99:0.00,1.00:0.00,0.87:46,37:28.1,154.3:0,0:0,0:41,31:110,119:26,6:-,chr1 g.148853768G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148853791 . G A 35 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;PC=0.017;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:70:0:0:14,63:442,1906:35.05,0.00:33.25,0.00:1.80,0.00:1.00,0.00:1.00,0.00:0.96,0.00:53,53:151.2,48.7:0,0:0,0:47,26:103,124:34,18:chr1 g.148853790G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148853801 rs148046717 A G 77 nt VT=SNV;PN=A;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=22;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:85:76:0:0:58,27:1832,874:0.00,77.22:0.00,67.71:0.00,9.51:0.00,1.00:0.00,1.00:0.00,1.00:53,53:36.5,127.7:0,0:0,0:32,27:117,124:16,20:-,chr1 g.148853800A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148853853 . G A 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=115;NP=112;PC=0.079;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:94:0:0:30,85:965,2667:82.23,0.00:57.77,0.00:24.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,55:62.0,56.3:0,0:0,0:47,56:101,92:18,24:chr1 g.148853852G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148853894 rs140868414 A G 188 nt VT=SNV;PN=C;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=NA;NP=2251;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:132:97:0:0:66,66:2201,1960:0.00,187.53:0.00,103.23:0.00,84.30:0.00,1.00:0.00,1.00:0.00,1.00:55,55:67.6,42.2:0,0:0,0:77,85:74,62:29,28:-,chr1 g.148853893A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148853906 rs2907982 T A 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=NA;NP=575;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,T:133:96:0:0:13,120:417,4044:29.43,0.00:16.03,0.00:13.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,55:42.3,55.0:0,0:0,0:104,95:47,51:35,28:chr1 g.148853905T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148853997 rs61813066 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=12;NP=170;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:89:47:0:0:78,11:2331,356:0.00,26.44:0.00,3.52:0.00,22.91:0.00,0.99:0.00,0.99:0.00,1.00:43,52:35.4,42.6:0,0:0,0:101,87:46,63:25,17:-,chr1 g.148853996C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854027 . C G 27 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=73;PC=0.008;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:73:32:0:0:60,11,2:1940,349,55:0.00,26.90,2.64:0.00,1.58,0.27:0.00,25.32,2.38:0.00,0.99,0.00:0.00,0.98,0.00:0.00,1.00,0.00:60,41,40:29.2,57.9,144.0:0,0,0:0,0,0:105,140,131:46,7,20:19,7,4:-,chr1 g.148854026C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854033 . T C 17 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:67:29:0:0:8,59:235,1883:16.69,0.00:0.37,0.00:16.32,0.00:0.94,0.00:0.93,0.00:0.99,0.00:40,60:108.1,25.5:0,0:0,0:140,99:11,52:6,24:chr1 g.148854032T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148854053 rs2429835 G A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=283;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:19:0:0:13,41:378,1353:31.07,0.00:16.96,0.00:14.11,0.00:1.00,0.00:0.98,0.00:1.00,0.00:51,60:42.3,27.8:0,0:0,0:98,113:51,36:28,21:chr1 g.148854052G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148854158 rs3929057 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=14;PC=0.057;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:36:0:0:9,45:299,1400:23.63,0.00:10.13,0.00:13.51,0.00:0.98,0.00:0.89,0.00:0.99,0.00:57,60:59.1,34.4:0,0:0,0:63,43:86,107:29,22:chr1 g.148854157G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148854211 rs2429834 A C 172 nt VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=191;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:72:56:0:0:20,52:652,1660:0.00,172.16:0.00,89.40:0.00,82.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,50.0:0,0:0,0:52,74:98,76:19,31:-,chr1 g.148854210A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854340 rs11240158 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=531;PC=0.181;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:13:0:0:31,10:941,249:0.00,19.80:0.00,5.63:0.00,14.17:0.00,1.00:0.00,0.95:0.00,1.00:60,60:22.9,57.7:0,0:0,0:123,109:26,41:22,29:-,chr1 g.148854339C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854437 . T C 53 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:2:0:0:16:452:52.80:6.85:45.95:1.00:1.00:1.00:59:75.6:0:0:117:34:25:chr1 g.148854436T>C (intergenic),chr1 g.148854436T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148854502 rs28510590 T C 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.010;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,G:11:2:0:0:10,1:270,23:31.24,1.74:3.74,0.00:27.51,1.74:1.00,0.00:0.99,0.00:1.00,0.00:60,38:69.0,103.0:0,0:0,0:76,31:59,81:26,0:chr1 g.148854501T>C (intergenic),chr1 g.148854501T>C (intergenic):0.38,0.38:NOT_FOUND,NOT_FOUND 1 148854545 rs61813067 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=450;PC=0.059;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,T:11:4:0:0:5,6:121,173:0.00,16.91:0.00,4.76:0.00,12.15:0.00,0.98:0.00,0.96:0.00,1.00:60,44:66.2,54.3:0,0:0,0:74,83:38,52:42,20:-,chr1 g.148854544C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854651 rs402835 A C,G 16 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=666;PC=0.054 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:22:C,G:6:3:0:0:5,1:145,31:16.46,2.80:5.80,0.00:10.67,2.80:0.99,0.00:1.00,0.00:0.99,0.00:60,6:89.0,105.0:0,0:0,0:59,64:72,55:42,0:chr1 g.148854650A>C (intergenic),chr1 g.148854650A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148854659 rs3010986 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=411;PC=0.363;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,G,T:7:4:0:0:2,1,4:60,24,115:0.00,1.90,11.68:0.00,-0.07,5.08:0.00,1.97,6.60:0.00,0.00,0.90:0.00,0.00,0.97:0.00,0.00,0.99:27,60,60:118.0,129.0,79.0:0,0,0:0,0,0:51,25,80:69,126,60:20,0,24:-,chr1 g.148854658C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854691 rs113694166 A T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=62;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,T:10:5:0:0:7,3:229,98:0.00,8.58:0.00,9.51:0.00,-0.93:0.00,0.62:0.00,0.82:0.00,0.89:60,60:78.6,151.0:0,0:0,0:99,11:32,139:42,5:-,chr1 g.148854690A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854727 rs113632133 A G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=549;PC=0.015;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:9:6:0:0:4,5:119,152:0.00,14.91:0.00,12.53:0.00,2.37:0.00,0.96:0.00,0.99:0.00,0.98:60,60:75.8,137.8:0,0:0,0:85,47:36,103:17,17:-,chr1 g.148854726A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148854750 rs79045127 T G 12 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9143,C/0.08566;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:G,T:7:6:0:0:4,3:117,102:11.53,0.00:12.27,0.00:-0.74,0.00:0.90,0.00:0.99,0.00:0.93,0.00:60,60:146.0,64.3:0,0:0,0:67,101:80,23:8,15:chr1 g.148854749T>G (intergenic),-:0.45,-:NOT_FOUND,- 1 148854808 rs115028925 G C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=46;PC=0.920;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,G:5:5:0:0:3,2:79,67:7.84,0.00:8.04,0.00:-0.20,0.00:0.78,0.00:0.78,0.00:0.73,0.00:60,60:164.0,81.5:0,1:0,0:123,77:23,30:5,33:chr1 g.148854807G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148855013 rs74641076 A C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=208;PC=0.178;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:2:A,C,G:5:4:0:0:1,3,1:12,106,12:0.00,10.98,0.89:0.00,10.98,-0.09:0.00,0.00,0.99:0.00,0.78,0.00:0.00,0.97,0.00:0.00,0.73,0.00:60,60,37:36.0,148.7,139.0:0,0,0:0,0,0:92,55,72:59,68,42:0,19,0:-,chr1 g.148855012A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148855032 rs2907976 T C 9 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9898,G/0.01018;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:C,T,I:6:4:1:0:4,1,1:85,30,21:9.08,0.00,1.72:8.41,0.00,-0.08:0.67,0.00,1.80:0.93,0.00,0.00:0.99,0.00,0.00:0.91,0.00,0.00:60,60,34:146.2,36.0,60.0:0,0,0:0,0,0:82,111,11:36,40,58:10,0,0:chr1 g.148855031T>C (intergenic),-:0.77,-:NOT_FOUND,- 1 148855070 rs72704347 T G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=19;PC=0.002;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:7:4:0:0:6,1:174,12:19.05,0.00:7.32,0.00:11.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:140.3,36.0:0,0:0,0:99,149:14,2:30,0:chr1 g.148855069T>G (intergenic),chr1 g.148855069T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148855088 rs2939350 G C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:150:17.38:11.03:6.35:1.00:1.00:1.00:60:140.2:0:0:105:46:42:chr1 g.148855087G>C (intergenic),chr1 g.148855087G>C (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 1 148855122 rs79687134 C A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=57;PC=0.044;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,C:6:6:0:0:3,3:94,89:9.03,0.00:7.29,0.00:1.74,0.00:0.73,0.00:0.73,0.00:0.67,0.00:60,60:129.3,52.3:0,0:0,0:59,58:54,93:59,34:chr1 g.148855121C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148855349 rs61813070 T C 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;PC=0.017;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:2:5:154:17.78:12.97:4.81:1.00:1.00:1.00:60:106.8:0:0:97:21:36:chr1 g.148855348T>C (intergenic),chr1 g.148855348T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148855666 rs189398888 G A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.911;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:4:4:0:0:2,2:68,51:6.55,0.00:6.70,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:205.5,65.5:0,0:0,0:33,89:82,62:12,21:chr1 g.148855665G>A (intergenic),-:0.09,-:NOT_FOUND,- 1 148873166 rs3883385 T G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=449;PC=0.790;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:G,T:33:33:0:0:4,29:113,891:7.96,0.00:7.96,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:42,50:30.8,17.5:0,0:0,0:79,55:72,96:22,29:chr1 g.148873165T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148873206 rs199530008 CATTTAAGTT C 45 nt VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.769;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CATTTAAGTT,C:48:48:0:19:29,19:894,495:0.00,44.58:0.00,44.58:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:43,50:17.5,38.2:0,0:0,0:58,66:93,78:41,32:-,chr1 g.148873207_148873215delATTTAAGTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148873300 rs3881801 T C 81 nt VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=144;PC=0.948;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:102:92:0:0:31,71:935,2163:81.10,0.00:66.42,0.00:14.68,0.00:1.00,0.00:1.00,0.00:0.99,0.00:41,43:64.1,12.2:0,0:0,0:41,50:108,100:31,27:chr1 g.148873299T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148873322 rs55819336 T C 93 nt VT=SNV;PN=T;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=382;PC=0.909;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:117:104:0:0:33,84:1076,2632:93.14,0.00:69.68,0.00:23.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,43:60.3,12.6:0,0:0,0:49,64:102,85:27,35:chr1 g.148873321T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148873483 rs111303341 C T 132 nt VT=SNV;PN=C;NN=A;SST=Single;DP=252;DB;DBA=NA;PAF=NA;NP=1587;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:252:142:0:0:201,1,50:6600,12,1630:0.00,-0.28,132.47:0.00,-0.15,39.52:0.00,-0.13,92.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:55,27,49:14.7,190.0,40.5:0,0,0:0,0,0:72,57,87:76,94,63:28,0,25:-,chr1 g.148873482C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148873574 rs74545317 G T 161 nt VT=SNV;PN=T;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=NA;PC=0.007;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:154:45:0:0:100,54:3399,1784:0.00,160.84:0.00,37.40:0.00,123.44:0.00,1.00:0.00,1.00:0.00,1.00:56,55:26.5,38.6:0,0:0,0:99,97:49,51:27,23:-,chr1 g.148873573G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148873584 rs56255206 G A 54 nt VT=SNV;PN=G;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=NA;NP=656;PC=0.003;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:141:34:0:0:22,119:703,3978:54.31,0.00:2.07,0.00:52.24,0.00:1.00,0.00:0.99,0.00:1.00,0.00:40,56:76.6,22.6:0,0:0,0:107,99:43,46:21,29:chr1 g.148873583G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148873588 rs56006253 A T 55 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=NA;NP=687;PC=0.986;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:133:31:0:0:110,1,22:3506,12,699:0.00,-0.25,54.59:0.00,-0.06,-1.45:0.00,-0.19,56.03:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:56,40,40:21.3,12.0,83.0:0,0,0:0,0,0:103,61,110:41,90,40:24,0,21:-,chr1 g.148873587A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148873688 . A AG 7 nt VT=INS;SST=Single;DP=31;NP=10;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,AG:31:0:9:0:22,9:677,105:0.00,6.61:0.00,0.00:0.00,6.61:0.00,0.99:0.00,0.00:0.00,0.99:45,25:11.2,37.4:0,0:0,0:126,97:22,54:21,44:-,chr1 g.148873688_148873689insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148873704 . C G 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;NP=58;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:0:0:0:15,7:476,239:0.00,21.26:0.00,0.00:0.00,21.26:0.00,0.97:0.00,0.00:0.00,0.97:45,40:9.7,40.7:0,0:0,0:113,70:38,80:31,44:-,chr1 g.148873703C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876127 . G C 15 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=57;NP=1;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,G,T:57:56:0:0:7,49,1:210,1498,10:15.24,0.00,-0.22:15.30,0.00,-0.21:-0.06,0.00,-0.01:0.91,0.00,0.00:1.00,0.00,0.00:0.42,0.00,0.00:27,56,9:150.1,15.0,53.0:0,0,0:0,0,0:5,41,113:146,109,30:2,32,0:chr1 g.148876126G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876129 rs200910095 A G 18 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:57:56:0:0:50,7:1488,239:0.00,18.03:0.00,18.09:0.00,-0.06:0.00,0.91:0.00,1.00:0.00,0.42:56,27:15.8,150.1:0,0:0,0:43,7:107,144:32,2:-,chr1 g.148876128A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876163 rs75079278 C T 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=18;NP=3;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:96:96:0:0:67,29:2156,853:0.00,73.58:0.00,73.58:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:56,27:11.0,98.0:0,0:0,0:44,27:107,123:31,10:-,chr1 g.148876162C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876254 rs199583343 T A 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=NA;PC=0.052;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:125:107:0:0:32,1,1,91:977,30,12,2820:82.36,1.08,-0.19,0.00:69.20,-0.24,-0.24,0.00:13.16,1.32,0.05,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:27,40,27,52:96.0,30.0,110.0,5.8:0,0,0,0:0,0,0,0:113,4,16,52:37,147,135,99:7,0,0,36:chr1 g.148876253T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876294 rs200827760 A G 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=NA;NP=4;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:137:86:0:0:115,22:3543,636:0.00,47.98:0.00,25.11:0.00,22.87:0.00,1.00:0.00,1.00:0.00,1.00:52,27:12.3,105.1:0,0:0,0:65,75:85,75:27,35:-,chr1 g.148876293A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876343 rs201760311 G A 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=16;PC=0.071;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:147:67:0:0:26,1,120:819,32,3549:64.68,1.17,0.00:19.30,-0.17,0.00:45.39,1.34,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,27,40:111.7,42.0,12.9:0,0,0:0,0,0:76,57,90:74,94,61:34,0,32:chr1 g.148876342G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876363 rs200016749 G A 71 nt VT=SNV;PN=A;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;NP=24;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:139:58:0:0:26,113:873,3569:70.63,0.00:19.67,0.00:50.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:113.3,15.2:0,0:0,0:87,97:62,54:34,30:chr1 g.148876362G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876400 rs421825 G A 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=NA;PC=0.913;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:115:43:0:0:17,1,97:500,18,3187:37.36,0.05,0.00:18.47,-0.11,0.00:18.89,0.16,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:54,40,51:66.9,169.0,30.9:0,0,0:0,0,0:99,92,98:52,59,52:23,0,38:chr1 g.148876399G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876411 rs446702 G T 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=0.996;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:105:35:0:0:3,87,15:29,2677,504:-0.41,0.00,39.07:-0.28,0.00,19.16:-0.13,0.00,19.92:0.00,0.00,1.00:0.00,0.00,0.78:0.00,0.00,1.00:54,51,50:142.7,32.3,64.9:0,0,0:0,0,0:58,89,57:82,62,94:13,36,38:-,chr1 g.148876410G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876432 rs79353130 C A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=27;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:93:22:0:0:15,78:427,2502:32.13,0.00:5.62,0.00:26.50,0.00:1.00,0.00:0.94,0.00:1.00,0.00:27,59:118.9,22.9:0,0:0,0:106,80:45,68:28,30:chr1 g.148876431C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876490 rs75373855 A G 20 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.466;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,C,G:73:3:0:0:64,1,8:1985,11,266:0.00,-0.22,19.51:0.00,-0.01,-0.08:0.00,-0.21,19.59:0.00,0.00,0.94:0.00,0.00,0.35:0.00,0.00,0.94:59,40,27:28.4,123.0,137.1:0,0,7:0,0,0:106,137,110:44,13,41:27,0,22:-,chr1 g.148876489A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876492 rs76087296 A G 49 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;PC=0.095;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:72:3:0:0:51,2,19:1575,21,573:0.00,-0.10,48.60:0.00,-0.01,1.62:0.00,-0.09,46.99:0.00,0.00,1.00:0.00,0.00,0.63:0.00,0.00,1.00:59,40,50:20.6,95.5,90.6:0,0,7:0,0,0:111,107,85:40,42,62:22,31,28:-,chr1 g.148876491A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876534 . T C 13 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;PC=0.011;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T,D:45:1:0:1:6,38,1:178,1207,19:13.06,0.00,0.42:-0.03,0.00,-0.00:13.09,0.00,0.43:0.86,0.00,0.00:0.42,0.00,0.00:0.86,0.00,0.00:27,59,21:130.2,36.8,12.0:3,23,0:0,0,0:99,104,23:47,42,128:42,26,0:chr1 g.148876533T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876536 rs56875218 CT C 21 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.006;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:CT,T,I,C:30:1:9:18:15,1,4,10:487,26,218,394:0.00,1.31,9.87,20.67:0.00,-0.01,-0.02,-0.06:0.00,1.32,9.90,20.73:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.49:0.00,0.00,0.00,1.00:59,43,58,56:45.5,102.0,131.2,73.6:0,0,5,7:0,0,0,0:134,38,82,78:15,95,69,72:6,0,20,29:-,chr1 g.148876537delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876559 . T A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:0:0:0:9,36:273,1113:21.83,0.00:0.00,0.00:21.83,0.00:0.99,0.00:0.00,0.00:0.99,0.00:24,59:133.7,37.7:0,0:0,0:22,100:120,50:10,39:chr1 g.148876558T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876568 rs78654875 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=8;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:41:0:0:0:10,1,30:280,33,970:23.01,1.84,0.00:0.00,0.00,0.00:23.01,1.84,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:40,17,58:127.3,99.0,38.3:0,0,0:0,0,0:29,55,98:116,96,51:11,0,32:chr1 g.148876567G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876595 rs4089281 C G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:35:0:0:0:25,10:786,288:0.00,24.48:0.00,0.00:0.00,24.48:0.00,1.00:0.00,0.00:0.00,1.00:58,50:62.3,59.6:9,0:0,0:82,90:68,37:32,24:-,chr1 g.148876594C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876598 rs369127249 T TCTCTTTTCTTACCTTC 12 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T,TCTCTTTTCTTACCTTC:35:0:9:0:1,25,9:9,770,167:-0.12,0.00,12.46:0.00,0.00,0.00:-0.12,0.00,12.46:0.00,0.00,0.99:0.00,0.00,0.00:0.00,0.00,0.99:17,58,40:99.0,39.0,119.9:0,0,0:0,0,0:101,107,57:50,31,90:0,24,9:-,chr1 g.148876598_148876599insCTCTTTTCTTACCTTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876648 rs202086845 C T 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=97;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:0:0:0:12,12:300,375:0.00,36.04:0.00,0.00:0.00,36.04:0.00,1.00:0.00,0.00:0.00,1.00:53,40:25.4,131.6:0,0:0,0:132,104:18,46:14,23:-,chr1 g.148876647C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148876664 rs377143277 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=43;PC=0.344;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:243,285:23.08,0.00:0.00,0.00:23.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:27,51:136.7,57.8:0,0:0,0:133,112:17,36:10,13:chr1 g.148876663T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876680 rs76080555 T C 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=111;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,T:13:0:0:0:8,5:267,139:26.78,0.00:0.00,0.00:26.78,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,51:134.0,34.2:0,0:0,0:116,135:22,15:27,6:chr1 g.148876679T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148876727 rs434965 C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,T:4:0:0:0:1,3:25,103:0.00,10.76:0.00,0.00:0.00,10.76:0.00,0.85:0.00,0.00:0.00,0.85:51,27:39.0,171.3:0,0:0,0:88,118:62,8:0,17:-,chr1 g.148876726C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148882326 rs372814763 C A 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=2740;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:54:34:0:0:10,43,1:329,1358,9:26.54,0.00,-0.22:11.97,0.00,-0.16:14.57,0.00,-0.06:0.99,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:42,44,27:34.1,14.9,32.0:0,0,0:0,0,0:110,105,57:40,42,93:25,21,0:chr1 g.148882325C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148882362 rs7528789 C T 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.014;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,T:37:14:0:0:34,3:1106,102:0.00,7.11:0.00,2.44:0.00,4.67:0.00,0.38:0.00,0.60:0.00,0.82:42,24:13.1,120.3:0,0:0,0:92,87:58,64:35,21:-,chr1 g.148882361C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148882389 rs200751874 T G 8 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=722;PC=0.075;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:G,T:30:10:0:0:3,27:105,834:7.70,0.00:1.15,0.00:6.55,0.00:0.43,0.00:0.58,0.00:0.83,0.00:15,42:42.7,23.2:0,0:0,0:29,113:122,38:0,22:chr1 g.148882388T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148887541 rs149126785 T C 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=888;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:37:0:0:16,26:542,815:49.71,0.00:43.23,0.00:6.49,0.00:1.00,0.00:1.00,0.00:0.93,0.00:50,51:47.0,3.7:0,0:0,0:60,33:90,118:41,23:chr1 g.148887540T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148888053 . G T 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;NP=63;PC=0.965;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:G,T:41:33:0:0:33,8:969,217:0.00,16.78:0.00,7.35:0.00,9.42:0.00,0.97:0.00,1.00:0.00,0.78:40,40:17.9,33.8:0,0:0,0:50,58:99,92:32,24:-,chr1 g.148888052G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148888276 . C CAA 18 idl,rn VT=INS;SST=Single;DP=42;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,C,CAA,D:39:13:10:14:6,13,10,10:149,348,208,165:11.91,0.00,17.82,12.09:-0.20,0.00,5.86,7.63:12.11,0.00,11.97,4.45:0.00,0.00,1.00,0.00:0.00,0.00,0.94,0.00:0.00,0.00,1.00,0.00:42,52,45,43:70.3,38.0,27.8,7.9:4,0,0,3:0,0,0,0:65,114,84,86:85,34,66,65:30,25,35,28:-,chr1 g.148888276_148888277insAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148888289 rs71257934 A T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1811;PC=0.037;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,T:51:13:0:0:46,5:1537,173:0.00,12.59:0.00,1.10:0.00,11.48:0.00,0.72:0.00,0.65:0.00,0.96:52,21:23.3,41.2:0,0:0,0:70,101:76,46:41,34:-,chr1 g.148888288A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148888410 . AGTTTTGTTTTGTTTT A 17 nt VT=DEL;SST=Single;DP=23;NP=79;PC=0.996;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:AGTTTTGTTTTGTTTT,A:23:1:0:6:17,6:557,197:0.00,16.83:0.00,-0.07:0.00,16.90:0.00,0.92:0.00,0.51:0.00,0.92:60,53:3.1,0.0:0,0:0,0:117,72:34,77:15,14:-,chr1 g.148888411_148888425delGTTTTGTTTTGTTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148888541 rs147835786 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=115;PC=0.027;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:4:0:0:0:1,3:32,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:50,27:0.0,196.0:0,0:0,0:115,60:35,88:0,19:-,chr1 g.148888540C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148888566 rs150200412 C T 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=575;PC=0.150;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:0:0:0:1,3:34,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:50,27:0.0,196.0:0,0:0,0:140,85:10,63:0,19:-,chr1 g.148888565C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148888573 rs111380947 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=694;PC=0.048;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:0:0:0:1,3:32,77:0.00,8.12:0.00,0.00:0.00,8.12:0.00,0.85:0.00,0.00:0.00,0.85:50,27:0.0,196.0:0,0:0,0:147,92:3,56:0,19:-,chr1 g.148888572A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148889543 . AT A 34 rn VT=DEL;SST=Single;DP=68;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:68:61:0:17:51,17:1630,423:0.00,33.82:0.00,24.05:0.00,9.77:0.00,1.00:0.00,1.00:0.00,0.96:58,43:22.5,2.2:0,0:0,0:47,53:103,98:31,46:-,chr1 g.148889544delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148889551 rs71268402 TAA T 102 nt VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=2253;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,TAA,T:72:65:0:34:18,20,34:564,617,1024:51.66,0.00,101.92:39.52,0.00,80.79:12.14,0.00,21.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:48,54,58:43.1,9.9,11.4:0,0,0:0,0,0:42,51,47:107,99,95:28,41,25:-,chr1 g.148889552_148889553delAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148889699 rs10157381 A G 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=3406;PC=0.022;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:35:0:0:47,26:1519,845:0.00,76.24:0.00,22.22:0.00,54.02:0.00,1.00:0.00,1.00:0.00,1.00:51,56:5.0,52.3:0,0:0,0:101,91:49,59:28,39:-,chr1 g.148889698A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148889778 rs56767391 T C 59 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=1704;PC=0.002;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:3:0:0:21,25:626,791:58.77,0.00:5.17,0.00:53.60,0.00:1.00,0.00:0.85,0.00:1.00,0.00:42,42:64.9,4.4:0,0:0,0:100,111:51,40:17,20:chr1 g.148889777T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148889889 rs71264326 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=861;PC=0.009;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:6:1:0:0:2,4:65,127:0.00,12.95:0.00,-0.48:0.00,13.43:0.00,0.93:0.00,0.78:0.00,0.99:40,40:0.0,49.0:0,0:0,0:33,91:117,59:32,13:-,chr1 g.148889888A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148890173 rs170528 A C 105 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=9;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:24:0:0:30:908:105.03:74.26:30.77:1.00:1.00:1.00:45:46.1:10:0:48:102:28:chr1 g.148890172A>C (intergenic),chr1 g.148890172A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148890177 rs371290373 A ATT 14 sb;idl,nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,ATT,D:30:23:9:2:20,8,2:619,183,64:0.00,13.92,4.40:0.00,15.21,2.30:0.00,-1.29,2.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.96,0.00:45,40,33:38.0,69.6,34.0:0,1,0:0,0,0:53,56,17:97,95,132:32,33,15:-,chr1 g.148890177_148890178insTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148890273 rs200628157 A G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3228;PC=0.837;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,G:39:24:0:0:35,4:1154,138:0.00,10.11:0.00,3.65:0.00,6.46:0.00,0.59:0.00,0.84:0.00,0.90:53,39:18.3,34.5:0,0:0,0:97,81:54,69:22,4:-,chr1 g.148890272A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148891244 rs151024 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.04673,T/0.9533;NP=14;PC=0.017;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:6:6:0:0:6:86:11.02:11.02:0.00:1.00:1.00:0.00:40:52.3:0:0:124:27:8:chr1 g.148891243A>G (intergenic),chr1 g.148891243A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148891580 rs374678179 A T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=NA;NP=410;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,T:123:84:0:0:110,13:3643,441:0.00,32.29:0.00,29.11:0.00,3.18:0.00,1.00:0.00,1.00:0.00,1.00:60,40:9.5,71.2:0,0:0,0:73,66:75,84:24,29:-,chr1 g.148891579A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148891643 rs200975583 A G 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=1233;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:125:70:0:0:94,1,30:3002,10,992:0.00,-0.25,83.73:0.00,-0.13,49.09:0.00,-0.12,34.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,45:10.7,46.0,74.3:0,0,0:0,0,0:110,100,32:39,49,118:29,0,29:-,chr1 g.148891642A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148891675 rs148986249 A G 194 nt VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;NP=3452;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:114:58:0:0:52,62:1708,1989:0.00,194.32:0.00,72.49:0.00,121.83:0.00,1.00:0.00,1.00:0.00,1.00:60,51:6.9,57.7:0,0:0,0:79,39:67,110:37,23:-,chr1 g.148891674A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148891684 . A G 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=109;NP=1;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:109:50:0:0:93,16:2919,524:0.00,40.32:0.00,13.00:0.00,27.32:0.00,1.00:0.00,1.00:0.00,1.00:60,50:33.1,62.7:0,0:0,0:71,66:77,85:31,30:-,chr1 g.148891683A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148891790 rs151025 T A 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=2665;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:59:15:0:0:16,43:470,1326:39.65,0.00:3.75,0.00:35.90,0.00:1.00,0.00:0.98,0.00:1.00,0.00:58,52:38.1,42.4:0,0:0,0:129,124:20,26:15,22:chr1 g.148891789T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148891819 . G A 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;NP=49;PC=0.003;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:A,G:32:1:0:0:7,25:231,801:19.14,0.00:-0.05,0.00:19.20,0.00:0.95,0.00:0.48,0.00:0.95,0.00:21,52:70.1,21.9:0,0:0,0:101,89:50,62:19,34:chr1 g.148891818G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148891828 rs4004710 A G 16 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=128;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:26:0:0:0:20,6:671,195:0.00,16.26:0.00,0.00:0.00,16.26:0.00,0.91:0.00,0.00:0.00,0.91:49,9:16.9,66.3:0,0:0,0:84,109:65,41:26,14:-,chr1 g.148891827A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148896555 rs368455013 TA G,T 9 sb,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:69:G,T:5:3:0:3:2,3:71,83:7.26,9.05:3.63,1.64:3.63,7.41:0.00,0.78:0.00,0.94:0.00,0.97:60,60:67.5,51.3:0,1:0,0:78,85:65,66:32,9:chr1 g.148896555_148896556delTAinsG (intergenic),chr1 g.148896556delA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 148902117 rs140705320 T G 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:G,T:12:12:0:0:5,7:162,198:15.05,0.00:15.05,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:43,50:86.0,12.9:0,0:0,0:33,39:118,112:10,32:chr1 g.148902116T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902165 rs61786297 A G 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=35;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:29:0:0:11,18:316,501:0.00,50.28:0.00,50.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:43,43:19.5,72.3:0,0:0,0:25,34:126,116:18,16:-,chr1 g.148902164A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148902223 rs151007 G A 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=78;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,G:65:64:0:0:9,56:287,1770:21.65,0.00:21.81,0.00:-0.16,0.00:0.97,0.00:1.00,0.00:0.46,0.00:43,49:46.2,34.0:0,0:0,0:41,49:110,98:21,29:chr1 g.148902222G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902392 rs2531506 G A 208 nt VT=SNV;PN=T;NN=T;SST=Single;DP=280;DB;DBA=NA;PAF=NA;NP=265;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:280:239:0:0:80,1,199:2428,12,6684:208.35,-0.28,0.00:171.85,-0.24,0.00:36.50,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,27,60:88.3,110.0,21.6:0,0,0:0,0,0:64,14,57:87,137,93:28,0,29:chr1 g.148902391G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902416 rs2537169 T C 346 nt VT=SNV;PN=A;NN=G;SST=Single;DP=348;DB;DBA=NA;PAF=NA;NP=196;PC=0.018;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:348:287:0:0:1,120,227:10,3856,7237:-0.26,345.71,0.00:-0.16,257.07,0.00:-0.10,88.64,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,43,60:65.0,94.2,24.0:0,0,0:0,0,0:59,56,58:92,94,90:0,39,31:chr1 g.148902415T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902483 rs55993601 G A 1357 nt VT=SNV;PN=G;NN=C;SST=Single;DP=437;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,C,G:437:305:0:0:396,2,39:12252,20,1140:1357.08,0.02,0.00:717.92,-0.05,0.00:639.16,0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:54,52,60:65.6,66.0,19.7:0,0,0:0,0,0:73,63,69:75,88,77:33,49,35:chr1 g.148902482G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902522 rs77238322 G A 653 nt VT=SNV;PN=G;NN=T;SST=Single;DP=460;DB;DBA=NA;PAF=NA;NP=3282;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:460:284:0:0:216,243,1:6876,7723,27:652.78,0.00,0.39:301.34,0.00,0.50:351.44,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:55,60,27:112.9,31.6,130.0:0,0,0:0,0,0:76,80,134:67,68,7:37,33,0:chr1 g.148902521G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902590 rs4004748 A G 453 nt VT=SNV;PN=T;NN=C;SST=Single;DP=323;DB;DBA=NA;PAF=NA;NP=2305;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:323:164:0:0:174,149:5100,4789:0.00,453.21:0.00,193.58:0.00,259.62:0.00,1.00:0.00,1.00:0.00,1.00:60,59:22.7,145.9:0,0:0,0:99,91:52,57:33,25:-,chr1 g.148902589A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148902591 rs3970035 C G 467 nt VT=SNV;PN=A;NN=C;SST=Single;DP=322;DB;DBA=NA;PAF=NA;NP=2062;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:322:164:0:0:1,171,149,1:19,5469,4920,10:0.01,0.00,466.99,-0.19:-0.08,0.00,182.03,-0.08:0.09,0.00,284.97,-0.11:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,60,59,43:88.0,21.5,146.0,179.0:0,0,0,0:0,0,0,0:38,100,82,80:113,51,65,71:0,33,24,0:-,chr1 g.148902590C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148902626 . G A 84 nt VT=SNV;PN=T;NN=T;SST=Single;DP=269;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:269:108:0:0:38,231:1135,7547:84.20,0.00:26.36,0.00:57.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,55:165.0,62.2:0,0:0,0:105,97:45,53:21,27:chr1 g.148902625G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902627 rs71258377 T C 369 nt VT=SNV;PN=G;NN=C;SST=Single;DP=263;DB;DBA=NA;PAF=NA;NP=1584;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:263:102:0:0:1,123,139:10,3885,4261:-0.20,368.55,0.00:-0.03,110.44,0.00:-0.17,258.11,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,53,52:178.0,143.2,19.2:0,0,0:0,0,0:94,109,90:20,40,60:0,19,28:chr1 g.148902626T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148902647 rs201309773 G T 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=236;DB;DBA=NA;PAF=NA;NP=18;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,G,T:236:73:0:0:1,216,19:36,6773,576:1.31,0.00,38.16:-0.09,0.00,10.46:1.40,0.00,27.70:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:27,44,42:104.0,74.0,40.2:0,0,0:0,0,0:39,109,93:111,41,58:0,26,24:-,chr1 g.148902646G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148902659 rs143619209 C T 276 nt VT=SNV;PN=A;NN=T;SST=Single;DP=220;DB;DBA=NA;PAF=NA;NP=2534;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:220:69:0:0:125,95:4066,2963:0.00,276.30:0.00,59.49:0.00,216.81:0.00,1.00:0.00,1.00:0.00,1.00:43,41:15.0,134.0:0,0:0,0:105,123:46,28:30,24:-,chr1 g.148902658C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148902759 rs200898882 C G 141 nt VT=SNV;PN=G;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=1002;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:118:48:0:0:69,49:2143,1523:0.00,140.86:0.00,41.25:0.00,99.61:0.00,1.00:0.00,1.00:0.00,1.00:40,40:9.8,69.1:0,0:0,0:80,75:70,76:40,46:-,chr1 g.148902758C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148902833 rs201726721 C G 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=1468;PC=0.033;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:122:82:0:0:76,46:2265,1300:0.00,116.74:0.00,60.46:0.00,56.28:0.00,1.00:0.00,1.00:0.00,1.00:40,40:9.6,63.8:0,0:0,0:54,78:95,73:43,45:-,chr1 g.148902832C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148902979 rs151092652 C T 325 nt VT=SNV;PN=C;NN=G;SST=Single;DP=353;DB;DBA=NA;PAF=NA;NP=3443;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:353:272:0:0:2,240,1,110:22,7158,6,3667:-0.46,0.00,-0.30,324.82:-0.22,0.00,-0.18,182.05:-0.25,0.00,-0.12,142.76:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:42,44,27,45:118.5,8.3,72.0,71.9:0,0,0,0:0,0,0,0:64,55,7,50:87,91,142,98:41,27,0,28:-,chr1 g.148902978C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903047 rs145813307 G A 356 nt VT=SNV;PN=A;NN=C;SST=Single;DP=455;DB;DBA=NA;PAF=NA;NP=3462;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:455:309:0:0:133,321,1:4115,10803,10:355.72,0.00,-0.26:165.68,0.00,-0.14:190.04,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,46,27:89.2,8.2,102.0:0,0,0:0,0,0:91,75,67:57,72,83:28,38,0:chr1 g.148903046G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903089 rs199822054 G A 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=404;DB;DBA=NA;PAF=NA;NP=2631;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,C,G:404:266:0:0:37,1,366:1137,8,11927:77.86,-0.31,0.00:33.93,-0.15,0.00:43.93,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,2,44:120.9,234.0,19.6:0,0,0:0,0,0:103,137,78:48,14,71:20,0,34:chr1 g.148903088G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903118 rs200471450 C T 178 nt VT=SNV;PN=C;NN=G;SST=Single;DP=374;DB;DBA=NA;PAF=NA;NP=2592;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:374:244:0:0:307,67:9420,2220:0.00,177.74:0.00,85.97:0.00,91.77:0.00,1.00:0.00,1.00:0.00,1.00:43,43:7.6,114.3:0,0:0,0:93,124:57,27:34,13:-,chr1 g.148903117C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903133 rs201570727 C T 126 nt VT=SNV;PN=C;NN=T;SST=Single;DP=342;DB;DBA=NA;PAF=NA;NP=1875;PC=0.134;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:342:218:0:0:292,50:9593,1634:0.00,125.50:0.00,49.85:0.00,75.66:0.00,1.00:0.00,1.00:0.00,1.00:60,43:7.3,119.3:0,0:0,0:79,132:67,15:37,10:-,chr1 g.148903132C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903226 . G A 124 nt VT=SNV;PN=C;NN=A;SST=Single;DP=349;NP=351;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:349:247:0:0:52,297:1626,9440:123.78,0.00:67.84,0.00:55.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:143.8,7.1:0,0:0,0:34,57:117,90:10,34:chr1 g.148903225G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903238 rs76985502 A C 135 nt VT=SNV;PN=G;NN=C;SST=Single;DP=351;DB;DBA=NA;PAF=NA;NP=522;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:351:240:0:0:299,52:9374,1745:0.00,135.46:0.00,69.92:0.00,65.54:0.00,1.00:0.00,1.00:0.00,1.00:60,43:9.0,142.2:0,0:0,0:71,46:74,104:36,12:-,chr1 g.148903237A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903246 rs79611996 G A 146 nt VT=SNV;PN=C;NN=G;SST=Single;DP=357;DB;DBA=NA;PAF=NA;NP=1580;PC=0.004;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:357:238:0:0:55,302:1866,9420:146.32,0.00:63.86,0.00:82.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:138.7,7.4:0,0:0,0:49,61:98,85:13,32:chr1 g.148903245G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903313 rs76621361 T C 136 nt VT=SNV;PN=C;NN=G;SST=Single;DP=329;DB;DBA=NA;PAF=NA;NP=3274;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:329:195:0:0:58,271:1748,8937:136.10,0.00:53.49,0.00:82.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:131.4,10.7:0,0:0,0:117,94:31,56:14,28:chr1 g.148903312T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903375 rs143965084 C T 105 nt VT=SNV;PN=A;NN=G;SST=Single;DP=242;DB;DBA=NA;PAF=NA;PC=0.641;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:242:128:0:0:199,1,42:6349,24,1335:0.00,0.26,105.15:0.00,-0.15,19.08:0.00,0.41,86.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,18,41:14.1,296.0,73.6:0,0,0:0,0,0:82,20,121:64,117,26:40,0,25:-,chr1 g.148903374C>T (intergenic):-,0.26:-,NOT_FOUND 1 148903405 . C T 88 nt VT=SNV;PN=C;NN=T;SST=Single;DP=187;PC=0.183;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:187:105:0:0:152,35:5013,1106:0.00,88.21:0.00,28.10:0.00,60.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.3,42.4:0,0:0,0:83,82:62,65:34,32:-,chr1 g.148903404C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903507 rs142037290 A G 340 nt VT=SNV;PN=G;NN=T;SST=Single;DP=166;DB;DBA=NA;PAF=NA;NP=1877;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:166:102:0:0:59,107:1895,3358:0.00,339.82:0.00,180.25:0.00,159.57:0.00,1.00:0.00,1.00:0.00,1.00:55,50:9.4,57.8:0,0:0,0:79,46:62,104:33,28:-,chr1 g.148903506A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903547 rs76622879 C T 73 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=199;DB;DBA=NA;PAF=NA;NP=2026;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:199:145:0:0:1,168,30:12,5193,947:-0.28,0.00,72.56:-0.12,0.00,70.99:-0.16,0.00,1.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,60,27:87.0,24.0,159.9:0,0,0:0,0,0:130,60,41:19,87,102:0,35,23:-,chr1 g.148903546C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903577 rs79177226 A G 145 nt VT=SNV;PN=T;NN=C;SST=Single;DP=245;DB;DBA=NA;PAF=NA;NP=2559;PC=1.000;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:245:174:0:0:193,52:5966,1754:0.00,145.26:0.00,125.14:0.00,20.12:0.00,1.00:0.00,1.00:0.00,1.00:60,43:24.5,151.7:0,0:0,0:66,44:81,107:34,25:-,chr1 g.148903576A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903616 rs77931718 G A 175 nt VT=SNV;PN=C;NN=G;SST=Single;DP=257;DB;DBA=NA;PAF=NA;NP=335;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:257:173:0:0:62,195:2071,5976:175.10,0.00:125.13,0.00:49.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:147.5,23.5:0,0:0,0:63,74:88,70:27,31:chr1 g.148903615G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903617 rs80113955 G A 175 nt VT=SNV;PN=G;NN=G;SST=Single;DP=258;DB;DBA=NA;PAF=NA;NP=364;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:258:175:0:0:61,1,196:2070,6,6193:174.98,-0.33,0.00:121.74,-0.16,0.00:53.24,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,55,60:137.6,79.0,24.6:0,0,0:0,0,0:48,123,79:103,26,67:18,0,30:chr1 g.148903616G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903639 rs74758496 A G 306 nt VT=SNV;PN=G;NN=A;SST=Single;DP=248;DB;DBA=NA;PAF=NA;NP=3217;PC=0.276;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:248:162:0:0:147,101:4619,3301:0.00,305.50:0.00,167.60:0.00,137.90:0.00,1.00:0.00,1.00:0.00,1.00:60,43:19.4,89.5:0,0:0,0:92,60:59,91:32,21:-,chr1 g.148903638A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903655 . A G 136 nt VT=SNV;PN=G;NN=T;SST=Single;DP=250;NP=1;PC=0.998;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:250:159:0:0:200,50:6210,1664:0.00,136.00:0.00,56.44:0.00,79.56:0.00,1.00:0.00,1.00:0.00,1.00:60,57:48.3,39.1:0,0:0,0:81,85:69,65:36,36:-,chr1 g.148903654A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903758 rs61786300 A G 188 nt VT=SNV;PN=C;NN=C;SST=Single;DP=165;DB;DBA=NA;PAF=NA;NP=3238;PC=0.422;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:165:64:0:0:103,1,61:3063,9,2058:0.00,-0.22,187.94:0.00,-0.06,46.17:0.00,-0.16,141.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,43,45:16.0,32.0,51.7:0,0,0:0,0,0:104,100,91:43,51,55:23,0,24:-,chr1 g.148903757A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148903864 rs201811525 G C 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=749;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:0:0:0:12,27:389,875:34.19,0.00:0.00,0.00:34.19,0.00:1.00,0.00:0.00,0.00:1.00,0.00:27,40:70.7,28.2:0,0:0,0:128,113:22,38:14,29:chr1 g.148903863G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 148903904 rs141340300 A G 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC101060524/NR_111000.1/0;VC=NonCoding;Gene=DRD5P2/NR_111001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:514:58.99:0.00:58.99:1.00:0.00:1.00:40:48.9:0:0:90:59:22:chr1 g.148903903A>G (intergenic),chr1 g.148903903A>G (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 148904072 rs201188498 A T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=47;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,T:4:0:0:0:1,3:36,94:0.00,9.85:0.00,0.00:0.00,9.85:0.00,0.85:0.00,0.00:0.00,0.85:45,39:0.0,118.0:0,0:0,0:56,132:63,8:0,15:-,chr1 g.148904071A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 148932713 rs71418367 C T 120 nt VT=SNV;PN=G;NN=C;SST=Single;DP=195;DB;DBA=NA;PAF=NA;NP=3153;PC=0.002;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:195:179:0:0:149,46:4995,1447:0.00,120.41:0.00,73.76:0.00,46.64:0.00,1.00:0.00,1.00:0.00,1.00:52,44:7.7,56.2:0,0:0,0:51,36:97,106:24,20:-,NR_027354.1(LOC645166) n.174-73C>T:-,NOT_FOUND:-,NOT_FOUND 1 148932843 . G A 167 nt VT=SNV;PN=G;NN=C;SST=Single;DP=316;NP=2338;PC=0.255;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:316:221:0:0:64,252:2054,8372:166.82,0.00:84.77,0.00:82.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,60:76.1,19.1:0,0:0,0:65,61:84,89:33,36:NR_027354.1(LOC645166) n.231G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 148932848 rs13653 A G 352 nt VT=SNV;PN=C;NN=T;SST=Single;DP=311;DB;DBA=NA;PAF=NA;NP=3421;PC=0.446;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:311:218:0:0:190,121:6208,3844:0.00,351.87:0.00,152.29:0.00,199.58:0.00,1.00:0.00,1.00:0.00,1.00:60,52:10.1,65.7:0,0:0,0:80,58:69,90:35,33:-,NR_027354.1(LOC645166) n.236A>G:-,NOT_FOUND:-,NOT_FOUND 1 148932885 rs1048214 C T 150 nt VT=SNV;PN=A;NN=A;SST=Single;DP=355;DB;DBA=NA;PAF=NA;NP=3093;PC=0.014;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:355:237:0:0:1,295,59:8,9920,1909:-0.37,0.00,149.87:-0.17,0.00,82.27:-0.20,0.00,67.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:49.0,28.0,36.3:0,0,0:0,0,0:50,59,76:101,84,69:0,35,44:-,NR_027354.1(LOC645166) n.273C>T:-,NOT_FOUND:-,NOT_FOUND 1 148932965 rs200950551 T C 254 nt VT=SNV;PN=C;NN=G;SST=Single;DP=255;DB;DBA=NA;PAF=NA;NP=2483;PC=0.018;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:255:122:0:0:92,3,160:2817,24,5316:253.65,-0.58,0.00:77.42,-0.19,0.00:176.23,-0.39,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,56,60:51.6,81.0,13.2:0,0,0:0,0,0:110,125,97:34,26,48:19,0,23:NR_027354.1(LOC645166) n.308+45T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148933287 rs2659307 G C 207 nt VT=SNV;PN=C;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.3542,C/0.6458;NP=1842;PC=0.907;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:105:85:0:1:2,67,34,1,1:23,2029,1071,13,21:0.20,206.67,0.00,0.04,0.53:-0.17,168.60,0.00,0.11,-0.09:0.36,38.07,0.00,-0.06,0.62:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:51,43,60,27,27:41.0,35.0,10.1,79.0,38.0:0,0,0,0,0:0,0,0,0,0:6,46,40,133,2:142,105,103,16,149:3,33,33,0,0:NR_027354.1(LOC645166) n.309-4G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 148933509 rs7417084 C T 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=271;PC=0.045;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:33:1:0:0:19,2,12:438,26,335:0.00,0.78,30.32:0.00,0.00,1.67:0.00,0.78,28.65:0.00,0.00,1.00:0.00,0.00,0.58:0.00,0.00,1.00:57,60,56:30.2,66.5,68.4:0,0,0:0,0,0:105,42,113:40,108,25:22,10,26:-,NR_027354.1(LOC645166) n.386+141C>T:-,NOT_FOUND:-,NOT_FOUND 1 148933579 . CAA C 9 idl,rn VT=DEL;SST=Single;DP=10;PC=0.160;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;Gene=LOC645166/NR_027355.2/0;VC=NonCoding;Gene=LOC645166/NR_027356.2/0;VC=NonCoding;Gene=LOC645166/NR_027354.2/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CAA,C:8:0:0:8:4,4:69,136:0.00,9.34:0.00,0.00:0.00,9.34:0.00,0.84:0.00,0.00:0.00,0.84:60,60:64.0,133.0:0,2:0,0:94,113:40,33:54,5:-,NR_027354.1(LOC645166) n.386+212_386+213delAA:-,NOT_FOUND:-,NOT_FOUND 1 149066242 rs79776114 A G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=3;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:9:0:0:12:388:44.48:25.09:19.38:1.00:1.00:1.00:60:49.2:0:0:83:61:18:chr1 g.149066241A>G (intergenic),chr1 g.149066241A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149067300 rs9326595 T C 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.02017,T/0.9798;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:288:33.06:33.06:0.00:1.00:1.00:0.00:60:41.3:0:0:20:130:12:chr1 g.149067299T>C (intergenic),chr1 g.149067299T>C (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 149094851 rs9438369 T C 74 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7666,C/0.2334;PC=0.004;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:1:0:0:22:632:73.59:1.99:71.60:1.00:1.00:1.00:60:48.5:0:0:107:42:28:chr1 g.149094850T>C (intergenic),chr1 g.149094850T>C (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 1 149096597 rs375451380 TC T 55 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=TC/0.9944,T/0.005591;DB;DBA=NA;PAF=TC/0.9944,T/0.005591;NP=91;PC=0.024;Gene=NBPF25P/NR_104217.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:TC,T:17:10:0:15:2,15:58,503:0.00,54.78:0.00,21.86:0.00,32.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:76.0,0.0:1,0:0,0:130,76:11,75:20,27:-,chr1 g.149096598delC (intergenic):-,0.0041:-,NOT_FOUND 1 149212246 . CG C 7 nt VT=DEL;SST=Single;DP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CG,C:5:5:0:4:2,3:67,71:0.00,7.07:0.00,7.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:29,25:266.5,275.7:2,0:0,0:19,23:119,120:7,0:-,chr1 g.149212247delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149212274 rs72477356 A G 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:178:20.66:18.62:2.04:1.00:1.00:1.00:53:274.2:0:0:50:93:7:chr1 g.149212273A>G (intergenic),chr1 g.149212273A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212285 rs77761678 T C 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:230:26.34:24.30:2.04:1.00:1.00:1.00:53:275.9:0:0:61:82:11:chr1 g.149212284T>C (intergenic),chr1 g.149212284T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212299 rs587603299 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:29:274.3:0:0:75:68:7:chr1 g.149212298T>C (intergenic),chr1 g.149212298T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212304 rs587714409 A G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:185:21.36:21.36:0.00:1.00:1.00:0.00:29:274.3:0:0:80:63:7:chr1 g.149212303A>G (intergenic),chr1 g.149212303A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212316 . G C 22 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:190:21.83:21.83:0.00:1.00:1.00:0.00:29:274.3:5:0:92:51:7:chr1 g.149212315G>C (intergenic),chr1 g.149212315G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212320 . GGCTCTTCCC G 16 nt VT=DEL;SST=Single;DP=7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:GGCTCTTCCC,G:7:6:0:6:1,6:35,144:0.00,15.92:0.00,12.21:0.00,3.71:0.00,1.00:0.00,1.00:0.00,0.90:21,53:298.0,272.2:0,0:0,0:130,90:2,50:0,6:-,chr1 g.149212321_149212329delGCTCTTCCC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149212338 . C T 23 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:197:22.56:18.58:3.98:1.00:1.00:1.00:53:272.2:6:0:99:41:6:chr1 g.149212337C>T (intergenic),chr1 g.149212337C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212341 . A C 23 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:197:22.56:18.88:3.68:1.00:1.00:1.00:53:272.2:6:0:102:38:6:chr1 g.149212340A>C (intergenic),chr1 g.149212340A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212347 rs78289475 C G 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.072 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:198:22.66:19.08:3.58:1.00:1.00:1.00:53:272.2:0:0:108:32:6:chr1 g.149212346C>G (intergenic),chr1 g.149212346C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149212359 rs76973523 G C 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:191:21.96:19.18:2.77:1.00:1.00:1.00:53:272.2:0:0:120:20:6:chr1 g.149212358G>C (intergenic),chr1 g.149212358G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149224024 rs112716611 T C 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:14:14:0:0:5,9:172,266:15.62,0.00:15.62,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:189.8,19.2:0,0:0,0:15,40:136,111:9,33:chr1 g.149224023T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149224027 rs111728776 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:C,T:14:14:0:0:5,9:160,287:14.43,0.00:14.43,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:189.8,19.2:0,0:0,0:18,43:133,108:9,33:chr1 g.149224026T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149224031 rs112016635 T C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:6,9:209,254:19.39,0.00:19.39,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:175.5,19.2:0,0:0,0:19,47:131,104:12,33:chr1 g.149224030T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149224050 . C CA 36 rn VT=INS;SST=Single;DP=24;NP=14;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:24:24:12:1:11,12,1:321,375,31:0.00,36.32,2.00:0.00,36.32,2.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,51:18.9,130.4,32.0:0,0,0:0,0,0:59,25,13:89,121,138:32,8,0:-,chr1 g.149224050_149224051insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149224135 rs200651796 G C 58 nt VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=41;NP=7;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:64:62:0:0:20,43,1:657,1304,11:58.15,0.00,-0.11:52.19,0.00,-0.08:5.96,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:60,60,60:101.9,35.4,73.0:0,0,0:0,0,0:91,52,118:58,99,16:27,22,0:NR_004400.1(RNU1-5) n.87C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 149224148 rs12091852 G A 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=88 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:68:0:0:23,47:793,1389:71.09,0.00:58.35,0.00:12.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:93.1,41.8:0,0:0,0:54,46:97,105:45,28:NR_004400.1(RNU1-5) n.74C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224185 rs583243 C A 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=519;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:99:91:0:0:16,83:539,2682:42.53,0.00:31.93,0.00:10.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.2,70.2:0,0:0,0:55,42:94,98:34,22:NR_004400.1(RNU1-5) n.37G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224214 . g . . NT END=149224320;NT GT ./. 1 149224224 . G A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=137;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,C,G,T:137:111:0:0:12,1,122,2:378,14,4077,20:26.01,-0.20,0.00,-0.51:14.59,-0.06,0.00,-0.38:11.42,-0.13,0.00,-0.14:0.99,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.99,0.00,0.00,0.00:58,22,60,54:139.7,228.0,54.6,167.0:0,0,0,0:0,0,0,0:59,150,57,85:75,-4,80,52:8,0,31,45:NR_004400.1(RNU1-5) n.-3C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224225 rs828492 C A 51 nt VT=SNV;PN=G;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=A/0.6927,C/0.3073;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:137:110:0:0:21,116:663,3872:50.90,0.00:34.93,0.00:15.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.6,63.0:0,0:0,0:74,55:75,81:32,28:NR_004400.1(RNU1-5) n.-4G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224274 rs828493 A G 419 nt VT=SNV;PN=C;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:120:83:0:0:2,118:19,3643:0.29,419.43:0.00,209.03:0.29,210.41:0.00,1.00:0.00,1.00:0.00,1.00:54,60:123.5,76.7:0,0:0,0:74,86:63,44:16,25:NR_004400.1(RNU1-5) n.-53T>C,NR_004400.1(RNU1-5) n.-53T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149224296 rs59925478 GCCCCCCCCC G 123 idl,nt VT=DEL;SST=Single;DP=96;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=410;PC=0.015;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,GCCCCCCCCC,G:94:61:0:44:3,12,39,40:33,354,964,1343:0.41,28.08,0.00,123.09:0.34,4.57,0.00,41.50:0.08,23.51,0.00,81.59:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:54,60,60,60:88.7,124.5,74.8,69.3:1,2,8,2:0,0,0,0:113,126,110,74:15,12,18,71:1,16,22,25:-,NR_004400.1(RNU1-5) n.-84_-76delGGGGGGGGG:-,NOT_FOUND:-,NOT_FOUND 1 149224301 rs4058291 C A 9 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,C,G:55:28:0:43:8,46,1:148,1205,11:8.90,0.00,-0.15:2.33,0.00,-0.18:6.57,0.00,0.02:0.96,0.00,0.00:0.96,0.00,0.00:0.97,0.00,0.00:60,60,60:93.1,89.6,37.0:0,5,0:0,0,0:134,111,136:12,18,9:9,19,0:NR_004400.1(RNU1-5) n.-80G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224310 . C A 45 sb;idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=70;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,D:70:33:0:1:22,47,1:529,1158,27:44.69,0.00,1.06:0.36,0.00,1.18:44.33,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,46:72.8,78.4,236.0:15,2,0:0,0,0:85,106,40:66,9,111:33,21,0:NR_004400.1(RNU1-5) n.-89G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224313 . C A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=92;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:A,C,G,I:92:56:1:1:9,76,6,1:237,2236,209,33:15.64,0.00,14.43,1.46:3.57,0.00,-1.09,-0.18:12.08,0.00,15.53,1.64:1.00,0.00,0.00,0.00:0.98,0.00,0.00,0.00:0.99,0.00,0.00,0.00:60,60,54,40:69.4,67.7,129.5,133.0:0,37,0,0:0,0,0,0:56,100,84,60:67,47,49,85:24,31,38,0:NR_004400.1(RNU1-5) n.-92G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224334 rs10900410 G C 34 lc VT=SNV;PN=T;NN=A;SST=Single;DP=111;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:111:25:0:0:16,95:457,3191:33.57,0.00:7.16,0.00:26.41,0.00:1.00,0.00:0.94,0.00:1.00,0.00:53,60:98.9,66.1:0,0:0,0:38,40:100,102:33,29:NR_004400.1(RNU1-5) n.-113C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 149224376 rs366015 C T 309 lc VT=SNV;PN=A;NN=C;SST=Single;DP=166;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:166:80:0:0:67,99:2071,3103:0.00,308.85:0.00,111.44:0.00,197.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.4,74.9:0,0:0,0:34,49:112,94:21,29:-,NR_004400.1(RNU1-5) n.-155G>A:-,NOT_FOUND:-,NOT_FOUND 1 149224408 rs56036741 CGCAGCAGCAGGTGGG C 71 lc VT=DEL;SST=Single;DP=194;DB;DBA=NA;PAF=CGCAGCAGCAGGTGGG/0.7522,C/0.2478;NP=354;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CGCAGCAGCAGGTGGG,C:194:110:0:38:1,155,38:10,4940,942:-0.28,0.00,71.19:-0.08,0.00,50.88:-0.20,0.00,20.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,57:156.0,53.7,46.6:0,0,0:0,0,0:48,63,52:103,79,93:0,28,20:-,NR_004400.1(RNU1-5) n.-202_-188delCCCACCTGCTGCTGC:-,NOT_FOUND:-,NOT_FOUND 1 149224410 rs7551713 C A 375 idl,lc VT=SNV;PN=G;NN=A;SST=Single;DP=155;DB;DBA=NA;PAF=C/0.5353,A/0.4647 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:155:87:0:38:113,42:3606,1432:375.10,0.00:148.70,0.00:226.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.7,10.2:0,0:0,0:65,61:83,83:29,24:NR_004400.1(RNU1-5) n.-189G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 149224451 rs10900412 C T 129 lc VT=SNV;PN=T;NN=T;SST=Single;DP=224;DB;DBA=NA;PAF=NA;NP=354;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:224:153:0:0:173,1,50:5736,11,1565:0.00,-0.25,128.86:0.00,-0.09,71.77:0.00,-0.15,57.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,49,60:46.0,107.0,53.7:0,0,0:0,0,0:78,30,63:68,121,80:35,0,25:-,NR_004400.1(RNU1-5) n.-230G>A:-,NOT_FOUND:-,NOT_FOUND 1 149224561 . G . . NT END=149230778;NT GT ./. 1 149224565 rs1707007 T C 611 nt VT=SNV;PN=A;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=C/0.2113,T/0.7887 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:171:101:0:0:170,1:5319,8:611.11,0.00:243.64,0.00:367.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.9,155.0:0,0:0,0:101,71:43,77:29,0:NR_004400.1(RNU1-5) n.-344A>G,NR_004400.1(RNU1-5) n.-344A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149224578 rs371191162 CT C 132 rn VT=DEL;SST=Single;DP=166;DB;DBA=NA;PAF=CT/0.5345,C/0.4655;DB;DBA=NA;PAF=CT/0.5345,C/0.4655;NP=3;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:166:86:0:49:117,49:3842,1528:0.00,132.46:0.00,51.85:0.00,80.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.5,64.2:0,0:0,0:103,78:44,64:33,34:-,NR_004400.1(RNU1-5) n.-358delA:-,NOT_FOUND:-,NOT_FOUND 1 149224655 rs3844557 A G 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:17:0:0:48,30:1610,894:0.00,81.08:0.00,12.52:0.00,68.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:54.0,87.9:0,0:0,0:91,110:60,41:32,26:-,NR_004400.1(RNU1-5) n.-434T>C:-,NOT_FOUND:-,NOT_FOUND 1 149224663 rs3120750 C G 273 nt VT=SNV;PN=A;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.1999,C/0.8001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:71:13:0:0:71:2397:273.47:30.03:243.44:1.00:1.00:1.00:60:69.3:0:0:103:48:28:NR_004400.1(RNU1-5) n.-442G>C,NR_004400.1(RNU1-5) n.-442G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149231110 . G . . NT END=149231539;NT GT ./. 1 149231610 . C . . NT END=149307422;NT GT ./. 1 149261086 rs140156139 G A 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=118 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:11:11:0:0:6,5:198,124:19.39,0.00:19.56,0.00:-0.17,0.00:0.98,0.00:0.98,0.00:0.70,0.00:39,43:35.2,62.0:0,0:0,0:57,4:93,146:31,2:chr1 g.149261085G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149261111 rs71256769 G T 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=5;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,T:24:23:0:0:16,8:480,206:0.00,17.77:0.00,13.53:0.00,4.24:0.00,0.99:0.00,1.00:0.00,0.92:44,43:47.8,70.8:0,0:0,0:22,13:122,135:17,7:-,chr1 g.149261110G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149261132 rs112360906 G A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=12;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:26:25:0:0:8,17,1:243,559,9:21.30,0.00,-0.04:13.53,0.00,0.03:7.77,0.00,-0.07:0.98,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:44,43,42:94.4,49.0,113.0:0,0,0:0,0,0:23,30,34:121,114,117:14,13,0:chr1 g.149261131G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149261138 rs113384742 G A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=15;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:25:0:0:9,18:292,597:26.04,0.00:18.16,0.00:7.88,0.00:1.00,0.00:1.00,0.00:0.99,0.00:44,43:89.6,45.9:0,0:0,0:29,38:108,108:14,24:chr1 g.149261137G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149261236 rs2787778 G T 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=692;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G,T:32:24:0:0:1,24,7:8,828,233:-0.16,0.00,19.45:-0.15,0.00,9.93:-0.01,0.00,9.52:0.00,0.00,0.95:0.00,0.00,0.99:0.00,0.00,0.99:27,45,43:178.0,36.4,70.7:0,0,0:0,0,0:90,85,130:61,54,20:0,22,11:-,chr1 g.149261235G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149261248 rs2787777 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=700;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:21:0:0:14,16:434,525:0.00,51.14:0.00,22.76:0.00,28.38:0.00,1.00:0.00,1.00:0.00,1.00:45,43:4.5,73.7:0,0:0,0:85,94:44,56:19,20:-,chr1 g.149261247C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149261349 rs145127358 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=55;PC=0.052 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,T:13:1:0:0:5,8:164,262:15.02,0.00:-0.21,0.00:15.23,0.00:0.91,0.00:0.59,0.00:0.99,0.00:27,40:56.4,1.2:0,0:0,0:110,94:40,51:39,45:chr1 g.149261348T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149261576 rs2787773 A G 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1149;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C,G:17:12:0:0:1,16:7,466:0.22,53.76:0.00,35.30:0.22,18.46:0.00,1.00:0.00,1.00:0.00,1.00:27,42:88.0,43.1:0,0:0,0:19,100:130,50:0,30:chr1 g.149261575A>G (intergenic),chr1 g.149261575A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149261581 rs77998576 G C 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=29;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:17:11:0:0:3,14:95,437:7.50,0.00:8.09,0.00:-0.59,0.00:0.53,0.00:0.83,0.00:0.74,0.00:27,42:66.0,41.4:0,0:0,0:64,117:85,33:9,23:chr1 g.149261580G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149261988 rs140851034 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=268;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:40:32:0:0:5,35:166,1194:12.44,0.00:12.91,0.00:-0.46,0.00:0.76,0.00:0.63,0.00:0.61,0.00:40,40:57.2,9.6:0,0:0,0:72,54:77,93:39,31:chr1 g.149261987G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149262467 rs2787772 A T 103 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=1966;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:58:21:0:0:25,33:843,1046:0.00,103.09:0.00,19.14:0.00,83.94:0.00,1.00:0.00,1.00:0.00,1.00:50,40:9.6,57.2:0,0:0,0:109,84:42,67:21,37:-,chr1 g.149262466A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149262528 rs61787948 T G 98 nt VT=SNV;PN=A;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=3449;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:62:31:0:0:32,30:1016,926:98.14,0.00:43.77,0.00:54.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:75.9,17.9:0,0:0,0:47,89:102,60:25,44:chr1 g.149262527T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149262554 rs656978 T C 136 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=3457;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:39:0:0:42,28:1365,819:136.13,0.00:72.34,0.00:63.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:68.7,13.5:0,0:0,0:53,66:96,85:32,45:chr1 g.149262553T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149262757 rs55966184 T G 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=1858;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:73:38:0:0:23,50:715,1634:62.73,0.00:26.44,0.00:36.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,43:45.0,13.1:0,0:0,0:83,94:67,56:40,32:chr1 g.149262756T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149262915 rs2787771 T C 20 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:26:0:0:9,31:250,1019:20.04,0.00:-0.04,0.00:20.08,0.00:0.99,0.00:0.99,0.00:0.99,0.00:40,60:51.8,10.3:0,0:0,0:109,47:41,100:23,24:chr1 g.149262914T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149262940 rs71620887 T G 14 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=55;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:G,T:40:30:0:0:6,34:187,1062:14.23,0.00:-1.69,0.00:15.92,0.00:0.88,0.00:0.97,0.00:0.93,0.00:40,60:62.7,10.7:0,0:0,0:122,60:27,86:14,19:chr1 g.149262939T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149263375 rs587638054 G T 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=1;NP=398;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:102:64:0:0:71,31:2263,1013:0.00,88.88:0.00,41.78:0.00,47.10:0.00,1.00:0.00,1.00:0.00,1.00:60,58:17.8,75.0:0,0:0,0:72,74:73,76:39,30:-,chr1 g.149263374G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149263435 rs145340638 T A 150 nt VT=SNV;PN=T;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=3434;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:82:39:0:0:47,35:1524,1149:150.47,0.00:56.73,0.00:93.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:82.4,1.3:0,0:0,0:83,90:68,57:21,26:chr1 g.149263434T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149263441 rs145816098 G A 145 nt VT=SNV;PN=G;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=3347;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:34:0:0:47,33:1462,1105:144.92,0.00:54.77,0.00:90.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:83.5,1.6:0,0:0,0:93,84:57,61:19,25:chr1 g.149263440G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149263481 rs199582966 C CA 69 nt VT=INS;SST=Single;DP=62;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1166;PC=0.673;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:62:20:29:0:33,29:1092,738:0.00,68.51:0.00,23.99:0.00,44.52:0.00,1.00:0.00,1.00:0.00,1.00:43,60:24.4,73.4:1,0:0,0:118,119:33,32:23,15:-,chr1 g.149263481_149263482insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149263614 rs200625415 A T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1;NP=1063;PC=0.368 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:16:3:0:0:9,7:289,232:0.00,21.78:0.00,-0.75:0.00,22.53:0.00,0.98:0.00,0.84:0.00,1.00:40,27:7.6,52.9:0,0:0,0:72,123:78,25:51,8:-,chr1 g.149263613A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149263653 rs144011210 T C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=351;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:11:5:0:0:3,8:106,267:9.23,0.00:-0.69,0.00:9.92,0.00:0.60,0.00:0.78,0.00:0.83,0.00:27,27:92.7,0.0:0,0:0,0:121,49:30,101:10,21:chr1 g.149263652T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149263664 rs146449606 G A 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=222;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G:12:5:0:0:4,8:117,276:10.28,0.00:-0.88,0.00:11.16,0.00:0.80,0.00:0.86,0.00:0.92,0.00:27,27:72.8,0.0:0,0:0,0:83,60:67,90:54,21:chr1 g.149263663G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149274517 rs5777693 C CTGTG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,CTGTG,D:6:4:3:1:2,3,1:70,97,34:0.00,9.63,2.94:0.00,5.11,1.51:0.00,4.51,1.43:0.00,0.73,0.00:0.00,0.51,0.00:0.00,0.96,0.00:60,60,48:0.0,0.0,0.0:0,0,0:0,0,0:66,85,18:67,56,71:13,0,0:-,NR_027002.1(LOC388692) n.-4959_-4958insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 149307384 rs145714753 C T 119 nt VT=SNV;PN=C;NN=T;SST=Single;DP=187;DB;DBA=NA;PAF=NA;NP=122;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:187:169:0:0:143,44:4574,1427:0.00,119.42:0.00,90.51:0.00,28.91:0.00,1.00:0.00,1.00:0.00,1.00:60,50:8.2,43.9:0,0:0,0:33,41:115,109:17,27:-,chr1 g.149307383C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149307558 . C . . NT END=149308885;NT GT ./. 1 149307564 rs138120562 A AC 195 nt VT=INS;SST=Single;DP=221;DB;DBA=NA;PAF=NA;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AC:221:93:91:0:129,1,91:4012,12,2178:0.00,-0.20,195.33:0.00,-0.00,43.03:0.00,-0.19,152.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,61:6.3,63.0,10.1:0,0,0:0,0,0:98,140,119:52,10,32:31,0,20:-,chr1 g.149307564_149307565insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149308867 rs142671370 G A 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=NA;NP=452 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:130:116:0:0:30,100:890,3275:72.85,0.00:63.67,0.00:9.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:51.8,12.0:0,0:0,0:68,74:82,76:25,17:chr1 g.149308866G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149309049 rs150074838 A G 190 lc VT=SNV;PN=G;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=NA;NP=720;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:170:82:0:0:106,64:3226,2080:0.00,189.64:0.00,69.75:0.00,119.90:0.00,1.00:0.00,1.00:0.00,1.00:51,52:13.8,55.5:0,0:0,0:77,74:73,76:37,39:-,chr1 g.149309048A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149309109 . C . . NT END=149379159;NT GT ./. 1 149309161 rs28463854 A G 186 nt VT=SNV;PN=T;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=NA;NP=615;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:111:32:0:0:48,1,62:1489,24,1890:0.00,0.70,185.76:0.00,-0.02,59.94:0.00,0.72,125.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,27,51:13.9,57.0,75.6:0,0,0:0,0,0:103,126,111:46,25,39:33,0,36:-,chr1 g.149309160A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149309171 rs11240220 T C 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=694;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:87:23:0:0:25,62:820,1839:71.29,0.00:21.14,0.00:50.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:82.6,35.9:0,0:0,0:92,85:58,65:34,43:chr1 g.149309170T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149309177 rs4622130 T C 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=319 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:79:21:0:0:19,1,59:634,12,1808:53.67,-0.14,0.00:15.22,0.14,0.00:38.45,-0.28,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:51,40,60:81.7,113.0,42.1:0,0,0:0,0,0:52,128,92:95,23,58:19,0,36:chr1 g.149309176T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149312712 rs4950733 A G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G:18:18:0:0:14,4:342,133:0.00,11.08:0.00,11.08:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:83.0,76.5:0,0:0,0:43,86:108,64:28,19:-,chr1 g.149312711A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149312742 rs4950734 A G 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,G:21:21:0:0:6,15:145,496:0.00,51.32:0.00,51.32:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.0,86.9:0,0:0,0:44,78:105,73:18,41:-,chr1 g.149312741A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149312791 rs28507003 C G 79 nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:35:34:0:0:10,25:321,758:0.00,78.64:0.00,72.94:0.00,5.70:0.00,1.00:0.00,1.00:0.00,0.93:60,50:49.2,74.1:0,0:0,0:28,46:122,104:21,34:-,chr1 g.149312790C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149312800 rs28584849 A G 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:37:0:0:19,19:619,562:0.00,53.82:0.00,52.73:0.00,1.09:0.00,1.00:0.00,1.00:0.00,0.51:60,53:56.6,73.1:0,0:0,0:44,39:106,112:23,38:-,chr1 g.149312799A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149312895 rs28619224 A G 102 nt VT=SNV;PN=T;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=758 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:68:0:0:52,32:1683,1105:0.00,101.52:0.00,65.57:0.00,35.95:0.00,1.00:0.00,1.00:0.00,1.00:49,52:32.2,74.9:0,0:0,0:70,66:71,84:19,24:-,chr1 g.149312894A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149312964 rs114523787 C G 295 nt VT=SNV;PN=G;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:C,G:85:57:0:0:2,83:48,2591:0.00,294.60:0.00,183.20:0.00,111.40:0.00,1.00:0.00,1.00:0.00,1.00:51,44:101.5,53.8:0,0:0,0:81,88:67,63:65,38:chr1 g.149312963C>G (intergenic),chr1 g.149312963C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149313012 rs148638161 C T 92 nt VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=530 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:51:0:0:47,33:1358,997:0.00,91.97:0.00,48.00:0.00,43.97:0.00,1.00:0.00,1.00:0.00,1.00:51,50:21.8,59.6:0,0:0,0:46,62:100,88:38,38:-,chr1 g.149313011C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149313241 rs59703289 G A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=464 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:16:0:0:0:7,1,8:223,6,244:21.11,-0.05,0.00:0.00,0.00,0.00:21.11,-0.05,0.00:0.98,0.00,0.00:0.00,0.00,0.00:0.98,0.00,0.00:57,27,50:44.9,137.0,14.8:0,0,0:0,0,0:117,37,126:34,114,25:22,0,23:chr1 g.149313240G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149313306 rs61786381 A G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,G:6:0:0:0:1,5:10,149:0.73,16.85:0.00,0.00:0.73,16.85:0.00,0.99:0.00,0.00:0.00,0.99:27,50:137.0,42.6:0,0:0,0:102,43:49,108:0,12:chr1 g.149313305A>G (intergenic),chr1 g.149313305A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149314152 rs201876273 C T 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=406;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:35:0:0:23,12:777,359:0.00,31.84:0.00,32.12:0.00,-0.27:0.00,1.00:0.00,1.00:0.00,0.74:42,42:1.5,44.0:0,0:0,0:63,82:88,68:35,27:-,chr1 g.149314151C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149314375 rs149640779 G C 23 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,G:114:77:0:0:10,104:326,3504:22.67,0.00:24.57,0.00:-1.90,0.00:0.97,0.00:0.99,0.00:0.97,0.00:39,51:37.1,8.5:0,0:0,0:39,82:111,68:13,39:chr1 g.149314374G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149315254 rs61786384 C G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,G:14:14:0:0:10,4:327,141:0.00,12.37:0.00,12.37:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:60,27:9.7,72.0:0,0:0,0:39,49:111,101:23,22:-,chr1 g.149315253C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149315261 rs151197727 A T 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=202 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:17:0:0:10,7:333,230:0.00,21.34:0.00,21.34:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,27:10.5,55.9:0,0:0,0:32,52:119,99:19,20:-,chr1 g.149315260A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149315442 rs140355776 T C 51 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=173;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:36:0:0:20,48:589,1581:50.53,0.00:-0.18,0.00:50.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:27,60:43.6,4.2:0,0:0,0:106,89:44,57:19,29:chr1 g.149315441T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149315537 rs145295868 A G 20 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=131;PC=0.717 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:34:14:0:0:27,7:832,243:0.00,20.14:0.00,-0.80:0.00,20.94:0.00,0.95:0.00,0.92:0.00,1.00:60,27:9.9,77.7:0,0:0,0:81,89:69,62:37,3:-,chr1 g.149315536A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149371084 rs369598639 G GT 12 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=34;Gene=FCGR1C/NR_027484.2/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:GT:4:0:4:0:4:102:11.81:0.00:11.81:1.00:0.00:1.00:51:0.0:0:0:89:61:35:NR_027484.1(FCGR1C) n.357+227_357+228insT,NR_027484.1(FCGR1C) n.357+227_357+228insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149376972 rs61805133 C T 118 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.5873,C/0.4127;NP=646;Gene=FCGR1C/NR_027484.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:11:0:0:32:1028:118.03:36.23:81.80:1.00:1.00:1.00:42:37.0:0:0:69:82:42:NR_027484.1(FCGR1C) n.896+15C>T,NR_027484.1(FCGR1C) n.896+15C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149379221 . A G 142 lc VT=SNV;PN=C;NN=C;SST=Single;DP=42;NP=48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:G:42:25:0:0:42:1225:142.28:79.27:63.00:1.00:1.00:1.00:42:65.5:0:0:18:133:15:chr1 g.149379220A>G (intergenic),chr1 g.149379220A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149379237 rs79080990 A G 184 lc VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.05371,A/0.9463;PC=0.444 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:51:32:0:0:51:1594:183.58:99.68:83.90:1.00:1.00:1.00:43:58.8:0:0:28:123:16:chr1 g.149379236A>G (intergenic),chr1 g.149379236A>G (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 1 149379951 . C . . NT END=149380490;NT GT ./. 1 149380352 rs139399326 T G 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:G,T:4:4:0:0:3,1:101,11:10.59,0.00:10.59,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:25,27:83.7,171.0:0,0:0,0:65,90:86,61:9,0:chr1 g.149380351T>G (intergenic),-:0.07,-:NOT_FOUND,- 1 149380367 . C G 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;NP=75;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:C,G:6:6:0:0:1,5:25,165:0.00,17.71:0.00,17.71:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:27,25:171.0,63.6:0,0:0,0:105,36:46,113:0,32:-,chr1 g.149380366C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149380525 . T . . NT END=149553077;NT GT ./. 1 149399931 rs644847 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:197:23.00:23.00:0.00:1.00:1.00:0.00:40:71.0:0:0:44:105:22:chr1 g.149399930G>A (intergenic),chr1 g.149399930G>A (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 149509964 rs71775379 G GTGTGTGTGTGTGTA 9 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=180;NP=2;NP=27;NP=31;NP=6;PC=0.470;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G,GTGTGTGTGTGTGTA:8:7:4:0:1,4,3:33,142,127:2.62,0.00,9.20:-0.08,0.00,3.29:2.70,0.00,5.91:0.00,0.00,0.64:0.00,0.00,0.92:0.00,0.00,0.64:1,57,59:33.0,41.8,11.0:0,0,1:0,0,0:67,126,97:43,2,53:0,4,30:-,chr1 g.149509964_149509965insTGTGTGTGTGTGTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149514536 . C T 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:124:14.31:0.00:14.31:1.00:0.00:1.00:31:78.8:0:0:131:20:10:chr1 g.149514535C>T (intergenic),chr1 g.149514535C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149553573 . T . . NT END=149694508;NT GT ./. 1 149576354 . T C 19 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;PC=0.995;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:166:18.98:17.05:1.94:1.00:1.00:1.00:58:144.4:0:0:8:143:8:NR_046135.1(FAM91A2) n.93T>C,NR_046135.1(FAM91A2) n.93T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 149576385 . G A 25 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;NP=2;PC=1.000;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,G:8:8:0:0:7,1:226,33:24.63,0.00:22.77,0.00:1.86,0.00:1.00,0.00:1.00,0.00:0.92,0.00:59,15:133.4,77.0:0,0:0,0:37,16:114,133:18,0:NR_046135.1(FAM91A2) n.124G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149576390 . C A 25 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;NP=3;PC=1.000;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,C:8:8:0:0:7,1:227,34:24.73,0.00:22.82,0.00:1.91,0.00:1.00,0.00:1.00,0.00:0.92,0.00:59,15:129.7,77.0:0,0:0,0:42,21:109,128:18,0:NR_046135.1(FAM91A2) n.129C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149576483 rs28475661 G A 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=27;PC=1.000;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:A,G,T:21:20:0:0:14,6,1:413,192,12:42.58,0.00,0.36:30.90,0.00,0.38:11.68,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:59,25,9:81.6,50.0,200.0:0,0,0:0,0,0:72,43,76:79,108,68:25,5,0:NR_046135.1(FAM91A2) n.222G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149576745 rs370400069 C T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.463;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:C,T:52:22:0:0:48,4:1452,139:0.00,9.69:0.00,5.53:0.00,4.16:0.00,0.54:0.00,0.70:0.00,0.92:51,31:18.7,91.8:0,0:0,0:117,100:34,50:20,11:-,XM_930678.6(LOC642441) c.704G>A (p.Gly235Glu):-,NOT_FOUND:-,NOT_FOUND 1 149576754 rs28757800 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,G,T:47:19:0:0:4,1,42:125,11,1269:8.52,-0.15,0.00:4.95,-0.09,0.00:3.57,-0.07,0.00:0.56,0.00,0.00:0.70,0.00,0.00:0.92,0.00,0.00:31,24,51:91.8,34.0,20.6:0,0,0:0,0,0:109,87,119:41,64,29:11,0,19:XM_930678.6(LOC642441) c.695A>G (p.Gln232Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 149576823 . A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;NP=10;PC=0.616;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,G:17:0:0:0:12,5:350,170:0.00,14.92:0.00,0.00:0.00,14.92:0.00,0.88:0.00,0.00:0.00,0.88:25,40:33.8,63.4:0,0:0,0:79,106:71,44:43,3:-,XM_930678.6(LOC642441) c.626T>C (p.Leu209Ser):-,NOT_FOUND:-,NOT_FOUND 1 149605678 rs2994182 A G 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:8:0:0:9:294:33.69:30.01:3.68:1.00:1.00:1.00:31:56.8:0:0:19:132:16:NR_046135.1(FAM91A2) n.439+28978A>G,NR_046135.1(FAM91A2) n.439+28978A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 149605791 rs143491282 C A 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,C:11:6:0:0:6,5:191,123:18.71,0.00:4.75,0.00:13.96,0.00:0.98,0.00:0.99,0.00:1.00,0.00:40,41:76.0,54.4:0,0:0,0:111,112:39,39:20,4:NR_046135.1(FAM91A2) n.439+29091C>A,-:0.78,-:NOT_FOUND,- 1 149605831 rs199988225 T G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=411;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:G,T:8:1:0:0:5,3:159,104:15.99,0.00:1.79,0.00:14.20,0.00:0.97,0.00:0.75,0.00:0.97,0.00:40,31:112.4,12.0:0,0:0,0:97,90:53,61:19,0:NR_046135.1(FAM91A2) n.439+29131T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 149605844 rs376535046 C G 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=330;PC=0.001;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G:8:0:0:0:3,5:95,163:0.00,16.39:0.00,0.00:0.00,16.39:0.00,0.97:0.00,0.00:0.00,0.97:31,40:12.0,112.4:0,0:0,0:103,110:48,40:0,19:-,NR_046135.1(FAM91A2) n.439+29144C>G:-,NOT_FOUND:-,NOT_FOUND 1 149605874 . C A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;NP=126;Gene=LINC00623/NR_024584.2/0;VC=NonCoding;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;Gene=LINC00623/NR_024510.2/0;VC=NonCoding;Gene=LINC00623/NR_024511.2/0;VC=NonCoding;Gene=LINC00623/NR_109754.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,C:7:0:0:0:3,4:97,137:9.06,0.00:0.00,0.00:9.06,0.00:0.69,0.00:0.00,0.00:0.69,0.00:25,31:129.0,9.0:0,0:0,0:136,124:15,26:4,9:NR_046135.1(FAM91A2) n.439+29174C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149646951 rs142747694 T C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=2325;PC=0.093;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:C,T:18:10:0:0:4,14:131,458:10.87,0.00:11.74,0.00:-0.87,0.00:0.73,0.00:0.88,0.00:0.83,0.00:27,27:71.2,11.1:0,0:0,0:78,88:72,61:12,40:NR_046135.1(FAM91A2) n.440-23258T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 149646993 rs2787775 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2608;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,G:23:17:0:0:18,5:603,168:0.00,13.96:0.00,11.28:0.00,2.68:0.00,0.84:0.00,0.96:0.00,0.82:43,42:14.7,53.6:0,0:0,0:69,25:81,125:46,16:-,NR_046135.1(FAM91A2) n.440-23216C>G:-,NOT_FOUND:-,NOT_FOUND 1 149647154 rs1756043 A C 104 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.08626,A/0.9137;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:C:31:20:0:0:31:893:103.88:58.58:45.30:1.00:1.00:1.00:43:44.6:0:0:95:56:19:NR_046135.1(FAM91A2) n.440-23055A>C,NR_046135.1(FAM91A2) n.440-23055A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 149647183 rs74996416 G C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=2620;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:17:0:0:13,20:401,688:36.66,0.00:8.04,0.00:28.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,43:60.4,25.6:0,0:0,0:102,107:49,42:27,20:NR_046135.1(FAM91A2) n.440-23026G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 149647518 rs3795676 A T 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5453,T/0.4547;NP=2616;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,T:17:2:0:0:10,7:329,176:0.00,15.89:0.00,2.36:0.00,13.53:0.00,0.98:0.00,0.71:0.00,1.00:42,42:5.8,32.9:0,0:0,0:100,100:50,51:11,18:-,NR_046135.1(FAM91A2) n.440-22691A>T:-,NOT_FOUND:-,NOT_FOUND 1 149648130 rs479085 T G 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=2879;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:40:21:0:0:13,27:428,867:38.06,0.00:11.58,0.00:26.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:80.0,13.6:0,0:0,0:119,64:31,84:9,38:NR_046135.1(FAM91A2) n.440-22079T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 149648156 . T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;NP=105;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:24:0:0:9,31:253,909:20.35,0.00:3.11,0.00:17.24,0.00:0.99,0.00:0.99,0.00:0.99,0.00:43,60:97.1,18.5:0,0:0,0:139,64:12,85:10,39:NR_046135.1(FAM91A2) n.440-22053T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 149648168 . A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;NP=2;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,G:35:22:0:0:31,4:962,114:0.00,7.96:0.00,-0.17:0.00,8.12:0.00,0.61:0.00,0.85:0.00,0.81:60,41:12.8,127.2:0,0:0,0:72,122:79,28:35,11:-,NR_046135.1(FAM91A2) n.440-22041A>G:-,NOT_FOUND:-,NOT_FOUND 1 149648285 rs57527472 GAGTTCTAAACA G 50 nt VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=GAGTTCTAAACA/0.6336,G/0.3664;NP=847;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GAGTTCTAAACA,G:60:49:0:18:1,41,18:20,1340,568:0.48,0.00,49.63:-0.25,0.00,28.74:0.72,0.00,20.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,51,60:188.0,7.5,3.2:0,0,0:0,0,0:42,59,62:109,92,84:0,35,21:-,NR_046135.1(FAM91A2) n.440-21923_440-21913delAGTTCTAAACA:-,0.24:-,NOT_FOUND 1 149648427 rs481866 T C 46 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=1113;PC=0.719;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:48:0:0:17,57:550,1803:45.80,0.00:49.04,0.00:-3.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:49.9,10.2:0,0:0,0:36,66:115,83:26,42:NR_046135.1(FAM91A2) n.440-21782T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 149648547 rs482887 C T 204 nt VT=SNV;PN=A;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=NA;NP=3451;PC=0.990;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:135:98:0:0:70,65:2157,2133:0.00,203.85:0.00,131.16:0.00,72.69:0.00,1.00:0.00,1.00:0.00,1.00:60,42:20.2,37.0:0,0:0,0:75,63:70,88:38,33:-,NR_046135.1(FAM91A2) n.440-21662C>T:-,NOT_FOUND:-,NOT_FOUND 1 149648627 rs2481101 A G 224 nt VT=SNV;PN=G;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;NP=3446;PC=0.990;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:139:99:0:0:67,72:2127,2318:0.00,224.38:0.00,116.81:0.00,107.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.5,39.2:0,0:0,0:68,64:82,87:34,44:-,NR_046135.1(FAM91A2) n.440-21582A>G:-,NOT_FOUND:-,NOT_FOUND 1 149648696 rs654715 G A 223 nt VT=SNV;PN=G;NN=A;SST=Single;DP=166;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:166:101:0:0:76,90:2367,2945:223.07,0.00:128.52,0.00:94.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,22.6:0,0:0,0:77,72:71,74:36,34:NR_046135.1(FAM91A2) n.440-21513G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149649002 rs116783842 G A 29 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=67;PC=0.127;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:74:30:0:0:12,1,61:371,9,1971:28.68,-0.27,0.00:-1.71,-0.14,0.00:30.39,-0.13,0.00:1.00,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:40,40,44:83.1,144.0,6.8:0,0,0:0,0,0:91,61,92:58,90,54:35,0,35:NR_046135.1(FAM91A2) n.440-21207G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149649032 rs200416211 T A 30 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=66;PC=0.973;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:57:18:0:0:12,1,44:370,16,1433:30.10,0.14,0.00:1.87,0.39,0.00:28.23,-0.25,0.00:1.00,0.00,0.00:0.96,0.00,0.00:1.00,0.00,0.00:40,27,44:98.5,100.0,5.8:0,0,0:0,0,0:73,37,88:78,113,58:36,0,45:NR_046135.1(FAM91A2) n.440-21177T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149649038 rs201479873 G A 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=52;PC=0.999;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:18:0:0:12,42:376,1386:30.91,0.00:1.76,0.00:29.15,0.00:1.00,0.00:0.73,0.00:1.00,0.00:40,44:97.3,7.5:0,0:0,0:67,76:84,75:37,32:NR_046135.1(FAM91A2) n.440-21171G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149649078 rs199539301 C CA 30 nt VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.7506,CA/0.2494;DB;DBA=NA;PAF=C/0.7506,CA/0.2494;NP=74;PC=0.934;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:48:11:13:0:1,34,13:11,1096,360:-0.08,0.00,30.18:-0.06,0.00,4.33:-0.02,0.00,25.85:0.00,0.00,1.00:0.00,0.00,0.94:0.00,0.00,1.00:27,43,40:11.0,15.5,64.2:0,1,0:0,0,0:84,89,54:66,62,97:0,27,24:-,NR_046135.1(FAM91A2) n.440-21131_440-21130insA:-,NOT_FOUND:-,NOT_FOUND 1 149649211 rs147089374 A T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=148;PC=0.398;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,T:20:9:0:0:16,4:475,119:0.00,9.47:0.00,7.35:0.00,2.12:0.00,0.71:0.00,0.82:0.00,0.87:40,40:7.6,74.8:0,0:0,0:91,74:58,76:26,50:-,NR_046135.1(FAM91A2) n.440-20998A>T:-,NOT_FOUND:-,NOT_FOUND 1 149649261 rs149638147 G A 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=436;PC=1.000;Gene=LINC00869/NR_111950.1/0;VC=NonCoding;Gene=LOC103091866/NR_111954.1/0;VC=NonCoding;Gene=LOC103091866/NR_111955.1/0;VC=NonCoding;Gene=LOC103091866/NR_111956.1/0;VC=NonCoding;Gene=LOC103091866/NR_111957.1/0;VC=NonCoding;Gene=LOC103091866/NR_111958.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:A,G:17:9:0:0:3,14:101,452:8.09,0.00:5.36,0.00:2.73,0.00:0.53,0.00:0.77,0.00:0.74,0.00:40,27:89.3,0.0:0,0:0,0:61,95:90,56:26,41:NR_046135.1(FAM91A2) n.440-20948G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 149692908 rs138064077 C T 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=14;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:41:0:0:20,24:568,758:0.00,74.09:0.00,56.67:0.00,17.42:0.00,1.00:0.00,1.00:0.00,0.99:40,42:36.2,48.9:0,0:0,0:79,59:71,92:44,34:-,chr1 g.149692907C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149692980 rs116244817 C G 88 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=26;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:65:54:0:0:34,30,1:1021,929,11:0.00,87.97,-0.04:0.00,90.55,0.04:0.00,-2.58,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:48,40,15:56.7,61.3,119.0:0,0,0:0,0,0:54,66,137:83,85,14:37,26,0:-,chr1 g.149692979C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149693044 rs61804942 C T 335 nt VT=SNV;PN=G;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:94:63:0:0:94:2905:335.28:163.15:172.12:1.00:1.00:1.00:57:58.7:0:0:45:97:28:chr1 g.149693043C>T (intergenic),chr1 g.149693043C>T (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 1 149693074 rs61804943 G A 113 nt VT=SNV;PN=C;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=163;PC=0.426 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:104:59:0:0:38,66:1249,2030:113.38,0.00:43.79,0.00:69.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,60:75.6,40.7:0,0:0,0:65,47:72,95:30,22:chr1 g.149693073G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149693162 rs147600061 A T 56 nt VT=SNV;PN=A;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:72:21:0:0:52,20:1589,652:0.00,56.28:0.00,9.59:0.00,46.68:0.00,1.00:0.00,1.00:0.00,1.00:60,49:26.7,72.7:0,0:0,0:116,114:33,30:19,23:-,chr1 g.149693161A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149694548 rs148054753 G A 190 lc VT=SNV;PN=C;NN=C;SST=Single;DP=171;DB;DBA=NA;PAF=NA;NP=221 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:171:123:0:0:66,104,1:2079,3057,13:190.13,0.00,-0.15:91.15,0.00,-0.08:98.98,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,52,40:39.2,13.2,13.0:0,0,0:0,0,0:71,78,137:75,72,13:39,42,0:chr1 g.149694547G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149694634 . C . . NT END=149698418;NT GT ./. 1 149694806 rs3867006 T C 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:35:0:0:0:10,1,24:311,12,754:26.93,0.05,0.00:0.00,0.00,0.00:26.93,0.05,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:55,59,55:56.1,150.0,28.7:0,0,0:0,0,0:125,143,126:25,8,25:15,0,19:chr1 g.149694805T>C (intergenic),-:0.41,-:NOT_FOUND,- 1 149694816 rs2492683 G C 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.08646,G/0.9135 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C,G:26:0:0:0:24,2:803,23:88.92,0.00:0.00,0.00:88.92,0.00:1.00,0.00:0.00,0.00:1.00,0.00:55,51:45.5,53.5:0,0:0,0:124,64:26,85:23,63:chr1 g.149694815G>C (intergenic),chr1 g.149694815G>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 149698196 rs2814229 G C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.08606,G/0.9139;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:204:23.26:23.26:0.00:1.00:1.00:0.00:60:66.5:0:0:29:121:8:chr1 g.149698195G>C (intergenic),chr1 g.149698195G>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 149698233 rs2492684 G A 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:14:14:0:0:3,11:97,361:7.97,0.00:7.97,0.00:0.00,0.00:0.56,0.00:0.56,0.00:0.00,0.00:44,60:140.7,59.6:0,0:0,0:11,36:134,115:6,22:chr1 g.149698232G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149698250 rs2492685 C T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:20:20:0:0:1,7,12:10,239,371:0.21,0.00,37.37:0.21,0.00,37.37:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:44,60,57:143.0,53.1,84.3:0,0,0:0,0,0:28,59,20:90,92,131:0,26,10:-,chr1 g.149698249C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149698251 rs12132746 G A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6018,A/0.3982;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:7,14:236,457:21.14,0.00:21.14,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,57:53.1,85.0:0,0:0,0:60,21:91,130:26,10:chr1 g.149698250G>A (intergenic),-:0.48,-:NOT_FOUND,- 1 149698270 rs28678762 A G 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=712 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:30:0:0:18,12:568,387:0.00,35.65:0.00,35.65:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,46:52.1,88.2:0,0:0,0:45,20:105,129:27,13:-,chr1 g.149698269A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149698345 rs71515771 C T 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:57:0:0:41,19:1274,581:0.00,50.88:0.00,41.72:0.00,9.16:0.00,1.00:0.00,1.00:0.00,0.98:60,60:35.1,44.6:0,0:0,0:57,54:94,97:25,30:-,chr1 g.149698344C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149698346 rs6669444 G A 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=586 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:58:0:0:10,51:319,1545:24.89,0.00:22.14,0.00:2.75,0.00:0.99,0.00:1.00,0.00:0.84,0.00:40,60:77.7,29.8:0,0:0,0:48,55:102,96:15,28:chr1 g.149698345G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149698386 rs10716058 GC G 69 sb,nt VT=DEL;SST=Single;DP=92;DB;DBA=NA;PAF=NA;NP=1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GC,T,G:92:84:0:43:1,47,1,43:10,1503,8,770:-0.12,0.00,-0.16,69.26:-0.17,0.00,-0.10,68.50:0.05,0.00,-0.06,0.76:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:44,60,53,40:52.0,20.8,32.0,25.9:0,1,0,0:0,0,0,0:2,67,37,23:135,82,114,128:0,35,0,16:-,chr1 g.149698387delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149698424 rs6683965 A G 94 lc VT=SNV;PN=T;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=125 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:147:123:0:0:113,34:3508,1127:0.00,94.42:0.00,65.55:0.00,28.87:0.00,1.00:0.00,1.00:0.00,1.00:60,45:11.5,54.7:0,0:0,0:50,38:99,102:30,19:-,chr1 g.149698423A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149698541 rs6679314 C T 136 lc VT=SNV;PN=C;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=NA;NP=708 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:185:102:0:0:138,47:4103,1587:0.00,135.67:0.00,40.36:0.00,95.31:0.00,1.00:0.00,1.00:0.00,1.00:52,44:8.8,48.8:0,0:0,0:92,85:54,65:28,25:-,chr1 g.149698540C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149698607 . C . . NT END=149699767;NT GT ./. 1 149698733 rs11587133 A T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G,T:20:0:0:0:15,1,4:453,11,126:0.00,0.10,10.27:0.00,0.00,0.00:0.00,0.10,10.27:0.00,0.00,0.71:0.00,0.00,0.00:0.00,0.00,0.71:50,43,51:19.9,48.0,68.2:0,0,0:0,0,0:49,56,129:102,95,21:48,0,9:-,chr1 g.149698732A>T (intergenic):-,0.12:-,NOT_FOUND 1 149698795 . C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:14:0:0:0:11,3:260,105:0.00,8.81:0.00,0.00:0.00,8.81:0.00,0.56:0.00,0.00:0.00,0.56:60,27:18.5,49.0:0,0:0,0:69,78:82,73:22,15:-,chr1 g.149698794C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149698819 rs3867012 G A 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.202 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:15:1:0:0:3,12:92,381:7.37,0.00:2.98,0.00:4.40,0.00:0.55,0.00:0.47,0.00:0.92,0.00:55,60:44.0,20.9:0,0:0,0:132,91:19,59:3,18:chr1 g.149698818G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149699517 rs1376166 A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,G:8:8:0:0:2,6:47,186:0.00,19.52:0.00,19.52:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:42,40:11.5,53.7:0,0:0,0:8,24:142,125:5,10:-,chr1 g.149699516A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149699685 rs201307673 C T 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=82;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:30:0:0:21,10:684,283:0.00,24.58:0.00,21.53:0.00,3.05:0.00,1.00:0.00,1.00:0.00,0.85:42,39:16.3,34.4:0,0:0,0:85,48:66,101:39,38:-,chr1 g.149699684C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149699712 rs144339075 C T 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=598;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:36:0:0:33,10:1081,307:0.00,25.35:0.00,18.50:0.00,6.85:0.00,0.99:0.00,1.00:0.00,0.91:42,42:14.4,53.9:0,0:0,0:49,54:102,97:40,34:-,chr1 g.149699711C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149699820 . C . . NT END=149699921;NT GT ./. 1 149699848 rs139652037 A C 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=141;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:96:66:0:0:73,23:2407,690:0.00,57.03:0.00,47.90:0.00,9.13:0.00,1.00:0.00,1.00:0.00,1.00:50,50:5.1,40.7:0,0:0,0:68,62:82,89:35,42:-,chr1 g.149699847A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149700039 . G . . NT END=149700915;NT GT ./. 1 149700785 rs59805824 C G 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=5;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:46:0:0:37,10:1205,311:0.00,25.32:0.00,23.72:0.00,1.60:0.00,0.99:0.00,1.00:0.00,0.48:60,33:15.5,67.7:0,0:0,0:46,64:105,85:28,19:-,chr1 g.149700784C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149700852 rs151158135 C G 63 nt VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=307;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:75:73:0:0:48,27:1630,717:0.00,63.22:0.00,60.46:0.00,2.75:0.00,1.00:0.00,1.00:0.00,1.00:60,39:6.1,48.4:0,0:0,0:47,80:101,71:30,42:-,chr1 g.149700851C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149701003 rs74946565 A T 278 lc VT=SNV;PN=A;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=NA;NP=9;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:177:126:0:0:88,89:2921,2885:0.00,277.61:0.00,168.23:0.00,109.38:0.00,1.00:0.00,1.00:0.00,1.00:60,43:9.2,41.2:0,0:0,0:88,68:56,83:37,31:-,chr1 g.149701002A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149701094 . C . . NT END=149754299;NT GT ./. 1 149701123 rs141297806 C A 106 nt VT=SNV;PN=G;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=730;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:154:66:0:0:42,112:1255,3551:106.36,0.00:43.24,0.00:63.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:52.0,13.9:0,0:0,0:101,94:47,53:16,22:chr1 g.149701122C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 149701167 . A G 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=115;NP=7;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:115:32:0:0:97,18:3286,570:0.00,43.95:0.00,10.30:0.00,33.64:0.00,1.00:0.00,0.98:0.00,1.00:43,43:15.3,50.7:0,0:0,0:109,126:42,23:28,12:-,chr1 g.149701166A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149701367 rs199755815 A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=120;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:9:0:0:0:6,3:191,103:0.00,9.24:0.00,0.00:0.00,9.24:0.00,0.64:0.00,0.00:0.00,0.64:42,27:15.7,39.0:0,0:0,0:126,134:25,17:7,12:-,chr1 g.149701366A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149744369 . TACAC T 13 idl,rn VT=DEL;SST=Single;DP=10;NP=12;PC=0.544;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:TACAC,I,T:7:8:3:5:2,1,4:68,98,166:0.00,2.39,13.07:0.00,-0.07,6.38:0.00,2.46,6.70:0.00,0.00,0.84:0.00,0.00,0.97:0.00,0.00,0.91:59,60,60:34.5,88.0,20.8:0,2,1:0,0,0:100,51,52:39,100,99:6,13,35:-,chr1 g.149744370_149744373delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 149754331 . G . . NT END=149754725;NT GT ./. 1 149754863 . A . . NT END=149755555;NT GT ./. 1 149755814 . G . . NT END=149759921;NT GT ./. 1 149760174 . G . . NT END=149761609;NT GT ./. 1 149761895 . G . . NT END=149762792;NT GT ./. 1 149762220 . TTC T 7 rn VT=DEL;SST=Single;DP=22;Gene=HIST2H2BF/NM_001161334.1/1;CC=c.378-7406_378-7405delGA;VC=Intron;Gene=FCGR1A/NM_000566.3/1;CC=c.844+341_844+342delTC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:TTC,T:22:8:0:4:19,3:631,90:0.00,6.63:0.00,-0.51:0.00,7.14:0.00,0.48:0.00,0.64:0.00,0.80:50,54:6.2,44.0:0,0:0,0:42,84:108,67:31,15:-,NM_000566.3(FCGR1A) c.844+327_844+328delTC:-,NOT_FOUND:-,NOT_FOUND 1 149763074 . C . . NT END=149783448;NT GT ./. 1 149783929 . G . . NT END=149784825;NT GT ./. 1 149785237 . G . . NT END=149804224;NT GT ./. 1 149804585 . T . . NT END=149812318;NT GT ./. 1 149812730 . A . . NT END=149813872;NT GT ./. 1 149814266 . G . . NT END=149822680;NT GT ./. 1 149815323 rs3738319 G A 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8115,G/0.1885;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:5:0:0:0:4,1:123,32:13.12,0.00:0.00,0.00:13.12,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:36.8,0.0:0,0:0,0:133,112:17,39:9,0:NM_001040874.1(HIST2H2AA4) c.-53-u7305G>A,-:0.15,-:NOT_FOUND,- 1 149823074 . G . . NT END=149824216;NT GT ./. 1 149824628 . G . . NT END=149832361;NT GT ./. 1 149832722 . T . . NT END=149857809;NT GT ./. 1 149858191 . G . . NT END=149858524;NT GT ./. 1 149858915 . A . . NT END=149859073;NT GT ./. 1 149859467 . T . . NT END=149871612;NT GT ./. 1 149872027 . A . . NT END=149876565;NT GT ./. 1 149876750 . C . . NT END=149877431;NT GT ./. 1 149877008 . CT C 9 idl,rn VT=DEL;SST=Single;DP=7;PC=0.038;Gene=SV2A/NM_001278719.1/0;CC=c.402-260delA;VC=Intron;Gene=SV2A/NM_014849.4/1;CC=c.2046-260delA;VC=Intron;DM=SV2A/MFS_1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CT,C:5:0:0:5:2,3:70,158:0.00,9.44:0.00,0.00:0.00,9.44:0.00,0.69:0.00,0.00:0.00,0.69:60,60:22.0,33.0:0,2:0,0:101,87:50,63:26,44:-,NM_014849.3(SV2A) c.2046-260delA:-,NOT_FOUND:-,NOT_FOUND 1 149877592 . C . . NT END=149878201;NT GT ./. 1 149878544 . A . . NT END=149879251;NT GT ./. 1 149879386 . C . . NT END=149879593;NT GT ./. 1 149879759 . C . . NT END=149880743;NT GT ./. 1 149880833 . C . . NT END=149881012;NT GT ./. 1 149881124 . C . . NT END=149881352;NT GT ./. 1 149881443 . C . . NT END=149882121;NT GT ./. 1 149881900 rs626785 G A 50 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2366,G/0.7634;PC=0.001;Gene=SV2A/NM_014849.4/1;CC=c.1089+222C>T;VC=Intron;DM=SV2A/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:433:49.97:48.08:1.89:1.00:1.00:1.00:60:37.3:0:0:46:103:28:NM_014849.3(SV2A) c.1089+222C>T,NM_014849.3(SV2A) c.1089+222C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 1 149882256 . C . . NT END=149882377;NT GT ./. 1 149882530 . C . . NT END=149883351;NT GT ./. 1 149883533 . C . . NT END=149884770;NT GT ./. 1 149885393 . G . . NT END=149895433;NT GT ./. 1 149885583 rs577935 A G 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.08267,A/0.9173;PC=0.002;Gene=SV2A/NM_014849.4/1;CC=c.-191T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:0:0:0:24:678:79.17:0.00:79.17:1.00:0.00:1.00:60:44.5:0:0:125:26:17:NM_014849.3(SV2A) c.-191T>C,NM_014849.3(SV2A) c.-191T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 149895622 . C . . NT END=149895732;NT GT ./. 1 149895907 . C . . NT END=149897727;NT GT ./. 1 149897935 . C . . NT END=149898267;NT GT ./. 1 149898811 . C . . NT END=149899057;NT GT ./. 1 149899187 . C . . NT END=149899617;NT GT ./. 1 149899652 . G . . NT END=149900758;NT GT ./. 1 149900985 rs587745310 CA C 26 idl,rn VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=55;Gene=MTMR11/NM_181873.3/1;CC=c.1888+61delT;VC=Intron;Gene=MTMR11/NM_001145862.1/0;CC=c.*35delT;VC=3UTR;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,CA,I,C:74:49:11:14:9,45,10,10:182,1328,337,442:11.90,0.00,23.96,25.96:-1.29,0.00,17.27,18.76:13.19,0.00,6.69,7.19:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:60,60,60,60:72.3,16.4,17.2,25.0:1,0,1,4:0,0,0,0:62,94,63,69:77,55,88,81:51,39,42,40:-,NM_001145862.1(MTMR11) c.*20T[15]:-,NOT_FOUND:-,NOT_FOUND 1 149901210 . C . . NT END=149901514;NT GT ./. 1 149901440 rs184208420 C G 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=14;PC=0.002;Gene=MTMR11/NM_181873.3/1;CC=c.1725+75G>C;VC=Intron;Gene=MTMR11/NM_001145862.1/0;CC=c.1941+75G>C;VC=Intron;DM=MTMR11/3-PAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:44:35:0:0:27,16,1:844,495,16:0.00,44.81,0.29:0.00,27.37,-0.21:0.00,17.45,0.50:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.7,34.7,165.0:0,0,0:0,0,0:30,51,90:120,99,58:13,34,0:-,NM_001145862.1(MTMR11) c.1941+75G>C:-,0.0005:-,NOT_FOUND 1 149901809 . C . . NT END=149902256;NT GT ./. 1 149902440 . C . . NT END=149902683;NT GT ./. 1 149902858 . C . . NT END=149903151;NT GT ./. 1 149903319 . C . . NT END=149903835;NT GT ./. 1 149903907 . C . . NT END=149904155;NT GT ./. 1 149904223 . C . . NT END=149905298;NT GT ./. 1 149905279 rs72692821 G A 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.8201,A/0.1799;Gene=MTMR11/NM_181873.3/1;CC=c.769+20C>T;VC=Intron;Gene=MTMR11/NM_001145862.1/0;CC=c.985+20C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:62:0:0:32,38:999,1228:94.15,0.00:61.89,0.00:32.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,2.3:0,0:0,0:44,56:103,94:29,33:NM_001145862.1(MTMR11) c.985+20C>T,-:0.18,-:0.112333,- 1 149905424 . C . . NT END=149905502;NT GT ./. 1 149905592 . C . . NT END=149905747;NT GT ./. 1 149905836 . C . . NT END=149906083;NT GT ./. 1 149906220 . C . . NT END=149906340;NT GT ./. 1 149906413 rs11205303 T C 71 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.7714,C/0.2286;PC=1.000;Gene=MTMR11/NM_181873.3/1;CC=c.259A>G;ProtCh=p.M87V;VC=Missense;Gene=MTMR11/NM_001145862.1/0;CC=c.475A>G;ProtCh=p.M159V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:60:26:0:0:26,1,33:767,11,988:71.47,-0.05,0.00:17.67,-0.08,0.00:53.79,0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.9,99.0,11.3:0,0,0:0,0,0:102,116,81:42,22,64:24,0,31:NM_001145862.1(MTMR11) c.475A>G (p.Met159Val),-:0.26,-:0.296479,- 1 149906420 . C . . NT END=149906878;NT GT ./. 1 149907022 . C . . NT END=149907191;NT GT ./. 1 149907253 . C . . NT END=149907476;NT GT ./. 1 149907599 . C . . NT END=149908046;NT GT ./. 1 149908108 rs386547202 A G 117 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.5833,G/0.4167;DB;DBA=NA;PAF=NA;Gene=MTMR11/NM_181873.3/1;CC=c.-51T>C;VC=5UTR;Gene=MTMR11/NM_001145862.1/0;CC=c.81T>C;ProtCh=p.N27=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:58:0:0:40,38:1192,1226:0.00,117.25:0.00,60.75:0.00,56.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,48.7:0,0:0,0:68,52:81,93:21,32:-,NM_001145862.1(MTMR11) c.81T>C (p.(=)):-,0.4:-,0.380132 1 149908267 . C . . NT END=149908474;NT GT ./. 1 149908541 . T . . NT END=149915755;NT GT ./. 1 149916965 . C . . NT END=149919151;NT GT ./. 1 149919237 . C . . NT END=149920870;NT GT ./. 1 149920986 . C . . NT END=149921531;NT GT ./. 1 149921682 . C . . NT END=149921996;NT GT ./. 1 149922125 . C . . NT END=149931602;NT GT ./. 1 149922308 rs79180349 GT G 25 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=134;PC=0.002;Gene=OTUD7B/NM_020205.3/1;CC=c.846-185delA;VC=Intron;DM=OTUD7B/OTU;DM=OTUD7B/OTU;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:21:0:0:9:12,9:375,272:0.00,25.27:0.00,0.00:0.00,25.27:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.7,31.0:0,0:0,0:87,78:63,73:49,35:-,NM_020205.2(OTUD7B) c.846-185delA:-,0.35:-,NOT_FOUND 1 149931541 rs4926400 G A 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8089,A/0.1911;Gene=OTUD7B/NM_020205.3/1;CC=c.845+62C>T;VC=Intron;DM=OTUD7B/OTU;DM=OTUD7B/OTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,G:22:22:0:0:7,15:195,467:16.86,0.00:13.56,0.00:3.30,0.00:0.97,0.00:0.97,0.00:0.71,0.00:60,60:32.7,4.1:0,0:0,0:62,63:89,88:21,36:NM_020205.2(OTUD7B) c.845+62C>T,-:0.18,-:NOT_FOUND,- 1 149931716 . C . . NT END=149936146;NT GT ./. 1 149936275 . C . . NT END=149937701;NT GT ./. 1 149937804 . C . . NT END=149939218;NT GT ./. 1 149939447 . C . . NT END=149942990;NT GT ./. 1 149943180 . C . . NT END=149949360;NT GT ./. 1 149949446 . G . . NT END=150039914;NT GT ./. 1 149997390 . AACACACACACAC A,AACACACACACACAC 7 idl,nt VT=DEL;SST=Single;DP=5;NP=80;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:AACACACACACAC,AACACACACACACAC,A:4:5:1:3:1,1,2:33,34,74:0.00,3.08,6.74:0.00,1.54,6.54:0.00,1.54,0.20:0.00,0.00,0.91:0.00,0.00,0.91:0.00,0.00,0.80:60,70,60:0.0,0.0,0.0:0,0,1:0,0,0:19,110,66:124,41,61:0,0,23:chr1 g.149997391_149997402delACACACACACAC (intergenic),chr1 g.149997401_149997402dupAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 150025833 rs1964542 C T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2354,C/0.7646;PC=0.976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:201:22.96:15.16:7.80:1.00:1.00:1.00:60:33.5:0:0:72:68:30:chr1 g.150025832C>T (intergenic),chr1 g.150025832C>T (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 1 150039678 rs2027349 G A 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2354,G/0.7646;Gene=VPS45/NM_001279353.1/0;CC=c.-16+15G>A;VC=Intron;Gene=VPS45/NM_007259.4/1;CC=c.-237G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:232:26.54:26.54:0.00:1.00:1.00:0.00:60:36.3:0:0:35:116:24:NM_007259.3(VPS45) c.-237G>A,NM_007259.3(VPS45) c.-237G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 150040008 . G . . NT END=150040666;NT GT ./. 1 150040822 . G . . NT END=150044232;NT GT ./. 1 150044294 . G . . NT END=150048310;NT GT ./. 1 150048139 rs71825614 AAT A 8 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;Gene=VPS45/NM_001279353.1/0;CC=c.182-150_182-149delTA;VC=Intron;Gene=VPS45/NM_007259.4/1;CC=c.290-150_290-149delTA;VC=Intron;Gene=VPS45/NM_001279354.1/0;CC=c.182-150_182-149delTA;VC=Intron;Gene=VPS45/NM_001279355.1/0;CC=c.31-863_31-862delTA;VC=Intron;Gene=VPS45/NR_103998.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:6:0:6:3:145:8.42:8.42:0.00:0.73:0.73:0.00:60:40.7:3:0:18:133:5:NM_007259.3(VPS45) c.290-171_290-170delAT,NM_007259.3(VPS45) c.290-171_290-170delAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 150048391 . G . . NT END=150048993;NT GT ./. 1 150049063 . G . . NT END=150049171;NT GT ./. 1 150049310 . G . . NT END=150049746;NT GT ./. 1 150049858 . G . . NT END=150053423;NT GT ./. 1 150053559 . G . . NT END=150053965;NT GT ./. 1 150054080 . G . . NT END=150054799;NT GT ./. 1 150054596 . C CA 14 rn VT=INS;SST=Single;DP=13;NP=1;PC=0.008;Gene=VPS45/NM_001279353.1/0;CC=c.622-187_622-186insA;VC=Intron;Gene=VPS45/NM_007259.4/1;CC=c.937-187_937-186insA;VC=Intron;Gene=VPS45/NM_001279354.1/0;CC=c.829-187_829-186insA;VC=Intron;Gene=VPS45/NM_001279355.1/0;CC=c.568-187_568-186insA;VC=Intron;Gene=VPS45/NR_103998.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,CA,D:13:13:5:1:7,5,1:210,148,33:0.00,13.64,2.42:0.00,13.64,2.42:0.00,0.00,0.00:0.00,0.91,0.00:0.00,0.91,0.00:0.00,0.00,0.00:60,60,60:49.1,60.6,0.0:0,0,0:0,0,0:20,49,30:131,102,121:14,37,0:-,NM_007259.3(VPS45) c.937-204_937-203insA:-,NOT_FOUND:-,NOT_FOUND 1 150054968 . G . . NT END=150064030;NT GT ./. 1 150055211 rs200640965 AC A 9 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AC/0.9918,A/0.008187;NP=34;Gene=VPS45/NM_001279353.1/0;CC=c.789+246delC;VC=Intron;Gene=VPS45/NM_007259.4/1;CC=c.1104+246delC;VC=Intron;Gene=VPS45/NM_001279354.1/0;CC=c.996+246delC;VC=Intron;Gene=VPS45/NM_001279355.1/0;CC=c.735+246delC;VC=Intron;Gene=VPS45/NR_103998.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:AC,A:8:0:0:3:5,3:151,94:0.00,8.53:0.00,0.00:0.00,8.53:0.00,0.67:0.00,0.00:0.00,0.67:60,60:41.0,3.7:0,0:0,0:86,32:64,119:44,2:-,NM_007259.3(VPS45) c.1104+245delC:-,0.01:-,NOT_FOUND 1 150064190 . G . . NT END=150064395;NT GT ./. 1 150064504 . G . . NT END=150065622;NT GT ./. 1 150065378 rs3850838 A T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2346,A/0.7654;PC=0.990;Gene=VPS45/NM_001279353.1/0;CC=c.1057-245A>T;VC=Intron;Gene=VPS45/NM_007259.4/1;CC=c.1372-245A>T;VC=Intron;Gene=VPS45/NM_001279354.1/0;CC=c.1264-245A>T;VC=Intron;Gene=VPS45/NM_001279355.1/0;CC=c.1003-245A>T;VC=Intron;Gene=VPS45/NR_103998.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:194:22.26:22.26:0.00:1.00:1.00:0.00:60:37.5:0:0:43:107:20:NM_007259.3(VPS45) c.1372-245A>T,NM_007259.3(VPS45) c.1372-245A>T:0.76,0.76:NOT_FOUND,NOT_FOUND 1 150065745 . G . . NT END=150070951;NT GT ./. 1 150071183 . G . . NT END=150082610;NT GT ./. 1 150082513 . C CA 7 rn VT=INS;SST=Single;DP=29;NP=5;PC=0.086;Gene=VPS45/NM_001279353.1/0;CC=c.1179-88dupA;VC=Intron;Gene=VPS45/NM_007259.4/1;CC=c.1494-88dupA;VC=Intron;Gene=VPS45/NM_001279354.1/0;CC=c.1386-88dupA;VC=Intron;Gene=VPS45/NM_001279355.1/0;CC=c.1125-88dupA;VC=Intron;Gene=VPS45/NR_103998.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CA,D:29:27:3:2:24,3,2:735,92,64:0.00,6.54,4.29:0.00,5.54,3.07:0.00,1.00,1.22:0.00,0.43,0.00:0.00,0.87,0.00:0.00,0.46,0.00:60,60,60:13.2,48.0,22.0:0,0,0:0,0,0:36,84,37:114,67,113:26,43,29:-,NM_007259.3(VPS45) c.1494-98_1494-97insA:-,NOT_FOUND:-,NOT_FOUND 1 150082743 . G . . NT END=150116886;NT GT ./. 1 150117100 . C . . NT END=150122447;NT GT ./. 1 150122478 . G . . NT END=150123101;NT GT ./. 1 150122493 rs4553237 T C 426 nt VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.007188,T/0.9928;Gene=PLEKHO1/NM_001304722.1/1;CC=c.-487+517T>C;VC=Intron;Gene=PLEKHO1/NM_001304724.1/0;CC=c.-418+517T>C;VC=Intron;Gene=PLEKHO1/NM_016274.5/0;CC=c.30+16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:119:76:0:0:119:3698:426.31:165.97:260.34:1.00:1.00:1.00:60:38.0:0:0:94:46:28:NM_016274.4(PLEKHO1) c.30+16T>C,NM_016274.4(PLEKHO1) c.30+16T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 150123249 . G . . NT END=150128259;NT GT ./. 1 150128006 rs11205334 G A 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.02216,G/0.9778;Gene=PLEKHO1/NM_001304722.1/1;CC=c.-339-254G>A;VC=Intron;Gene=PLEKHO1/NM_001304724.1/0;CC=c.-270-254G>A;VC=Intron;Gene=PLEKHO1/NM_016274.5/0;CC=c.178-254G>A;VC=Intron;Gene=PLEKHO1/NM_001304723.1/0;CC=c.-339-254G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:293:33.59:33.59:0.00:1.00:1.00:0.00:60:47.2:0:0:44:107:31:NM_016274.4(PLEKHO1) c.178-254G>A,NM_016274.4(PLEKHO1) c.178-254G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 150128401 . G . . NT END=150129104;NT GT ./. 1 150128425 rs1545762 C T 237 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.233,C/0.767;Gene=PLEKHO1/NM_001304722.1/1;CC=c.-199+25C>T;VC=Intron;Gene=PLEKHO1/NM_001304724.1/0;CC=c.-130+25C>T;VC=Intron;Gene=PLEKHO1/NM_016274.5/0;CC=c.318+25C>T;VC=Intron;Gene=PLEKHO1/NM_001304723.1/0;CC=c.-199+25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:T:61:32:0:0:61:2079:236.99:83.02:153.97:1.00:1.00:1.00:60:46.6:0:0:100:46:27:NM_016274.4(PLEKHO1) c.318+25C>T,NM_016274.4(PLEKHO1) c.318+25C>T:0.77,0.77:0.706597,0.706597 1 150129210 . G . . NT END=150129578;NT GT ./. 1 150129267 rs10749675 G A 113 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.02017,G/0.9798,T/.;Gene=PLEKHO1/NM_001304722.1/1;CC=c.-94+58G>A;VC=Intron;Gene=PLEKHO1/NM_001304724.1/0;CC=c.-25+58G>A;VC=Intron;Gene=PLEKHO1/NM_016274.5/0;CC=c.423+58G>A;VC=Intron;Gene=PLEKHO1/NM_001304723.1/0;CC=c.-94+58G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A,C:35:4:0:0:34,1:977,11:113.40,0.30:7.63,0.00:105.77,0.30:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,77.0:0,0:0,0:107,28:43,123:31,0:NM_016274.4(PLEKHO1) c.423+58G>A,NM_016274.4(PLEKHO1) c.423+58G>A:0.98,0.98:0.978975,0.978975 1 150129335 rs3208509 G A 66 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.224,G/0.776;Gene=PLEKHO1/NM_001304722.1/1;CC=c.-94+126G>A;VC=Intron;Gene=PLEKHO1/NM_001304724.1/0;CC=c.-25+126G>A;VC=Intron;Gene=PLEKHO1/NM_016274.5/0;CC=c.423+126G>A;VC=Intron;Gene=PLEKHO1/NM_001304723.1/0;CC=c.-94+126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:2:0:0:21:559:65.72:7.35:58.37:1.00:1.00:1.00:60:56.4:0:0:96:55:37:NM_016274.4(PLEKHO1) c.423+126G>A,NM_016274.4(PLEKHO1) c.423+126G>A:0.78,0.78:0.729523,0.729523 1 150129681 . G . . NT END=150131013;NT GT ./. 1 150130835 rs10888573 G A 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3944,G/0.6056;Gene=PLEKHO1/NM_001304722.1/1;CC=c.10-179G>A;VC=Intron;Gene=PLEKHO1/NM_001304724.1/0;CC=c.-24-179G>A;VC=Intron;Gene=PLEKHO1/NM_016274.5/0;CC=c.526-179G>A;VC=Intron;Gene=PLEKHO1/NM_001304723.1/0;CC=c.10-179G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:343:39.54:39.54:0.00:1.00:1.00:0.00:60:46.3:0:0:33:118:26:NM_016274.4(PLEKHO1) c.526-179G>A,NM_016274.4(PLEKHO1) c.526-179G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 150131719 . G . . NT END=150192982;NT GT ./. 1 150193064 . C . . NT END=150195511;NT GT ./. 1 150195621 . C . . NT END=150198939;NT GT ./. 1 150199128 . C . . NT END=150201404;NT GT ./. 1 150201571 . C . . NT END=150202905;NT GT ./. 1 150201631 rs374089746 C CT 13 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.5242,T/0.4758;NP=50;PC=0.566;Gene=ANP32E/NM_001136479.2/0;CC=c.184-62_184-61insA;VC=Intron;Gene=ANP32E/NM_001136478.3/0;CC=c.205-62_205-61insA;VC=Intron;Gene=ANP32E/NM_001280559.1/1;CC=c.328-62_328-61insA;VC=Intron;Gene=ANP32E/NM_001280560.1/0;CC=c.327+1274_327+1275insA;VC=Intron;Gene=ANP32E/NM_030920.4/0;CC=c.328-62_328-61insA;VC=Intron;DM=ANP32E/LRR_9;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T,CT,D:36:12:6:3:26,2,5,3:729,44,192,89:0.00,2.37,12.51,6.12:0.00,-0.19,2.30,-0.29:0.00,2.56,10.21,6.41:0.00,0.00,0.77,0.00:0.00,0.00,0.75,0.00:0.00,0.00,0.96,0.00:60,60,60,60:18.6,147.5,38.6,3.7:0,0,1,0:0,0,0,0:119,92,111,102:22,47,39,49:8,34,7,24:-,NM_030920.3(ANP32E) c.328-62_328-61insA:-,NOT_FOUND:-,NOT_FOUND 1 150203029 . C . . NT END=150204114;NT GT ./. 1 150203082 . CT C 10 idl,rn VT=DEL;SST=Single;DP=48;NP=12;Gene=ANP32E/NM_001136479.2/0;CC=c.61-55delA;VC=Intron;Gene=ANP32E/NM_001136478.3/0;CC=c.204+1032delA;VC=Intron;Gene=ANP32E/NM_001280559.1/1;CC=c.205-55delA;VC=Intron;Gene=ANP32E/NM_001280560.1/0;CC=c.205-55delA;VC=Intron;Gene=ANP32E/NM_030920.4/0;CC=c.205-55delA;VC=Intron;DM=ANP32E/LRR_9;DM=ANP32E/LRR_4;DM=ANP32E/LRR_4;DM=ANP32E/LRR_4;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:CT,I,C:45:23:2:7:39,1,5:1273,62,210:0.00,1.45,10.13:0.00,-0.14,4.68:0.00,1.58,5.45:0.00,0.00,0.73:0.00,0.00,0.83:0.00,0.00,0.94:60,60,60:28.3,0.0,49.0:0,1,2:0,0,0:117,31,94:24,119,57:22,20,13:-,NM_030920.3(ANP32E) c.205-55delA:-,NOT_FOUND:-,NOT_FOUND 1 150204265 . C . . NT END=150206926;NT GT ./. 1 150206772 rs587728841 TA T 21 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;Gene=ANP32E/NM_001136479.2/0;CC=c.-91+154delT;VC=Intron;Gene=ANP32E/NM_001136478.3/0;CC=c.54+1308delT;VC=Intron;Gene=ANP32E/NM_001280559.1/1;CC=c.54+1308delT;VC=Intron;Gene=ANP32E/NM_001280560.1/0;CC=c.54+1308delT;VC=Intron;Gene=ANP32E/NM_030920.4/0;CC=c.54+1308delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:17:18:1:8:9,1,7:268,29,251:0.00,1.90,20.55:0.00,1.90,20.55:0.00,0.00,0.00:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.00:60,60,70:23.2,7.0,18.4:0,0,1:0,0,0:32,117,41:118,34,110:28,0,35:-,NM_030920.3(ANP32E) c.54+1308delT:-,NOT_FOUND:-,NOT_FOUND 1 150207027 . G . . NT END=150208080;NT GT ./. 1 150208135 . g . . NT END=150230523;NT GT ./. 1 150230579 . G . . NT END=150232545;NT GT ./. 1 150232567 . G . . NT END=150233857;NT GT ./. 1 150234038 . G . . NT END=150234556;NT GT ./. 1 150234700 . G . . NT END=150234923;NT GT ./. 1 150235020 . G . . NT END=150235202;NT GT ./. 1 150235270 . G . . NT END=150235440;NT GT ./. 1 150235599 . G . . NT END=150235697;NT GT ./. 1 150236079 . G . . NT END=150236192;NT GT ./. 1 150236278 . G . . NT END=150236992;NT GT ./. 1 150236314 . CT C 15 idl,rn VT=DEL;SST=Single;DP=36;NP=1;PC=0.028;Gene=CA14/NM_012113.2/1;CC=c.947+55delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:CT,G,T,C:33:10:0:9:24,1,2,6:712,13,43,290:0.00,0.11,2.29,15.31:0.00,0.35,-0.13,1.00:0.00,-0.23,2.42,14.30:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.78:0.00,0.00,0.00,0.99:60,60,60,60:12.9,55.0,34.0,25.8:1,0,1,3:0,0,0,0:128,148,77,62:18,3,74,88:19,0,46,27:-,NM_012113.1(CA14) c.947+38delT:-,NOT_FOUND:-,NOT_FOUND 1 150237091 . C . . NT END=150238529;NT GT ./. 1 150239057 . C . . NT END=150239474;NT GT ./. 1 150239603 . C . . NT END=150239755;NT GT ./. 1 150239879 . C . . NT END=150240115;NT GT ./. 1 150240190 . C . . NT END=150240356;NT GT ./. 1 150240528 . C . . NT END=150241097;NT GT ./. 1 150241211 . G . . NT END=150245220;NT GT ./. 1 150245268 . T . . NT END=150246489;NT GT ./. 1 150246575 . T . . NT END=150248149;NT GT ./. 1 150248210 . T . . NT END=150248929;NT GT ./. 1 150249042 . T . . NT END=150252050;NT GT ./. 1 150252153 . G . . NT END=150253245;NT GT ./. 1 150253313 . T . . NT END=150255677;NT GT ./. 1 150256044 . G . . NT END=150256214;NT GT ./. 1 150256291 . G . . NT END=150256835;NT GT ./. 1 150256915 . G . . NT END=150257006;NT GT ./. 1 150257119 . G . . NT END=150258841;NT GT ./. 1 150257329 rs942452 A G 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.004593,A/0.9954;NP=548;PC=0.008;Gene=CIART/NM_001300838.1/0;CC=c.633+211A>G;VC=Intron;Gene=CIART/NM_001300839.1/1;CC=c.369+211A>G;VC=Intron;Gene=CIART/NM_001300840.1/0;CC=c.369+211A>G;VC=Intron;Gene=CIART/NM_144697.3/0;CC=c.633+211A>G;VC=Intron;Gene=CIART/NM_001300841.1/0;CC=c.369+211A>G;VC=Intron;DM=CIART/DUF4664 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:149:17.26:0.00:17.26:1.00:0.00:1.00:60:47.2:0:0:106:45:15:NM_144697.2(C1orf51) c.633+211A>G,NM_144697.2(C1orf51) c.633+211A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 150259367 . C . . NT END=150266786;NT GT ./. 1 150266870 . G . . NT END=150280481;NT GT ./. 1 150280550 rs4845 G A 194 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.9121,A/0.08786;PC=0.085;Gene=MRPS21/NM_018997.3/0;CC=c.152G>A;ProtCh=p.R51Q;VC=Missense;Gene=MRPS21/NM_031901.5/1;CC=c.152G>A;ProtCh=p.R51Q;VC=Missense;DM=MRPS21/Ribosomal_S21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:105:86:0:0:59,46:1973,1410:194.24,0.00:101.68,0.00:92.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,8.7:0,0:0,0:65,66:80,77:25,32:NM_018997.2(MRPS21) c.152G>A (p.Arg51Gln),-:0.09,-:0.123943,- 1 150280663 . G . . NT END=150297400;NT GT ./. 1 150297233 rs35437473 C A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.9567,A/0.04333;Gene=PRPF3/NM_004698.2/1;CC=c.-48-120C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:28:28:0:0:12,15,1:375,436,10:35.17,0.00,0.05:35.17,0.00,0.05:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:34.2,21.3,128.0:0,0,0:0,0,0:48,36,97:102,115,54:38,22,0:NM_004698.2(PRPF3) c.-48-120C>A,-:0.05,-:NOT_FOUND,- 1 150297334 rs587677749 CT C 21 idl,rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=162;PC=0.001;Gene=PRPF3/NM_004698.2/1;CC=c.-48-3delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:CT,I,C:46:48:5:17:33,5,8:1142,144,541:0.00,10.22,21.27:0.00,2.97,18.53:0.00,7.25,2.73:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.89:60,60,60:53.5,19.8,56.1:0,0,9:0,0,0:70,41,28:80,95,122:41,35,19:-,NM_004698.2(PRPF3) c.-48-18delT:-,NOT_FOUND:-,NOT_FOUND 1 150297546 . G . . NT END=150298208;NT GT ./. 1 150298340 . G . . NT END=150300015;NT GT ./. 1 150300112 . G . . NT END=150300778;NT GT ./. 1 150300727 rs834225 T C 147 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.4972,T/0.5028;Gene=PRPF3/NM_004698.2/1;CC=c.277-52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C:42:42:0:0:42:1274:147.28:125.50:21.77:1.00:1.00:1.00:60:36.2:0:0:39:102:28:NM_004698.2(PRPF3) c.277-52T>C,NM_004698.2(PRPF3) c.277-52T>C:0.54,0.54:0.63202,0.63202 1 150300926 . G . . NT END=150305154;NT GT ./. 1 150301006 rs574759925 AT A 17 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.185;Gene=PRPF3/NM_004698.2/1;CC=c.423+107delT;VC=Intron;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:AT,A:21:7:0:10:14,7:376,254:0.00,16.83:0.00,3.95:0.00,12.88:0.00,0.97:0.00,0.90:0.00,1.00:60,60:46.9,32.6:0,2:0,0:139,83:11,68:9,13:-,NM_004698.2(PRPF3) c.423+82delT:-,NOT_FOUND:-,NOT_FOUND 1 150305239 . G . . NT END=150305449;NT GT ./. 1 150305671 . G . . NT END=150307405;NT GT ./. 1 150305863 rs1260406 C A 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7344,C/0.2656;PC=0.014;Gene=PRPF3/NM_004698.2/1;CC=c.728+193C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,C:12:0:0:0:5,7:147,224:13.54,0.00:0.00,0.00:13.54,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:36.0,13.1:0,0:0,0:125,110:25,39:10,28:NM_004698.2(PRPF3) c.728+193C>A,-:0.27,-:NOT_FOUND,- 1 150307270 rs1260408 T G 64 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.492,T/0.508;PC=0.023;Gene=PRPF3/NM_004698.2/1;CC=c.729-136T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:G,T:20:20:0:0:19,1:567,10:64.23,0.00:64.23,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.2,37.0:0,0:0,0:36,145:111,5:30,0:NM_004698.2(PRPF3) c.729-136T>G,NM_004698.2(PRPF3) c.729-136T>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 150307713 . G . . NT END=150310635;NT GT ./. 1 150310549 rs587643419 CA C 26 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=194;PC=0.005;Gene=PRPF3/NM_004698.2/1;CC=c.1036-71delA;VC=Intron;DM=PRPF3/PRP3;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:22:21:3:10:1,10,2,9:9,301,99,311:0.08,0.00,5.02,26.23:-0.15,0.00,5.09,20.78:0.23,0.00,-0.07,5.45:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.95:60,60,60,60:21.0,8.2,68.5,4.6:0,0,1,1:0,0,0,0:35,59,41,50:116,91,110,100:0,48,5,30:-,NM_004698.2(PRPF3) c.1036-86delA:-,NOT_FOUND:-,NOT_FOUND 1 150310803 . G . . NT END=150312873;NT GT ./. 1 150310827 rs11806171 A C 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.9567,C/0.04333,T/.;PC=0.994;Gene=PRPF3/NM_004698.2/1;CC=c.1202+25A>C;VC=Intron;DM=PRPF3/PRP3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:33:13:0:0:22,11:704,346:0.00,30.73:0.00,10.13:0.00,20.59:0.00,1.00:0.00,0.99:0.00,1.00:60,60:13.7,42.3:0,0:0,0:97,117:42,33:41,26:-,NM_004698.2(PRPF3) c.1202+25A>C:-,0.05:-,0.081885 1 150312954 . G . . NT END=150315784;NT GT ./. 1 150315719 rs58514816 AAAAAAAT A 55 idl,nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=AAAAAAAT/0.1749,A/0.8251;NP=188;PC=0.058;Gene=PRPF3/NM_004698.2/1;CC=c.1283-64_1283-58delAAAAATA;VC=Intron;DM=PRPF3/PRP3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAAAAAT,A:30:30:0:20:12,18:388,616:0.00,54.76:0.00,46.58:0.00,8.18:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.8,7.5:1,2:0,0:26,24:113,106:21,20:-,NM_004698.2(PRPF3) c.1283-65_1283-59delAAAAAAT:-,0.3:-,NOT_FOUND 1 150315724 rs66790680 AATAT A 22 idl,nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=17;PC=0.024;Gene=PRPF3/NM_004698.2/1;CC=c.1283-46_1283-43delATAT;VC=Intron;DM=PRPF3/PRP3;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:AATAT,A:10:11:0:29:3,7:95,247:0.00,22.15:0.00,18.94:0.00,3.21:0.00,1.00:0.00,1.00:0.00,0.96:60,60:23.7,6.4:1,1:0,0:133,25:17,124:16,11:-,NM_004698.2(PRPF3) c.1283-60_1283-57delATAT:-,NOT_FOUND:-,NOT_FOUND 1 150315929 . G . . NT END=150316637;NT GT ./. 1 150316738 . G . . NT END=150316851;NT GT ./. 1 150317024 . G . . NT END=150318493;NT GT ./. 1 150318613 . G . . NT END=150318883;NT GT ./. 1 150318968 . G . . NT END=150321632;NT GT ./. 1 150319081 rs16836143 T A 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.847,A/0.153;PC=0.784;Gene=PRPF3/NM_004698.2/1;CC=c.1843+114T>A;VC=Intron;DM=PRPF3/DUF1115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:0:0:0:8,8:254,268:24.40,0.00:0.00,0.00:24.40,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.6,10.4:0,0:0,0:105,92:45,58:32,21:NM_004698.2(PRPF3) c.1843+114T>A,-:0.17,-:NOT_FOUND,- 1 150321486 rs1625468 G A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7722,A/0.2278;Gene=PRPF3/NM_004698.2/1;CC=c.1844-147G>A;VC=Intron;DM=PRPF3/DUF1115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:9:9:0:0:6,3:191,93:19.47,0.00:19.47,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:31.8,7.7:0,0:0,0:44,64:107,86:37,15:NM_004698.2(PRPF3) c.1844-147G>A,-:0.25,-:NOT_FOUND,- 1 150321695 . G . . NT END=150325308;NT GT ./. 1 150325456 . G . . NT END=150337190;NT GT ./. 1 150337396 . G . . NT END=150390071;NT GT ./. 1 150344982 rs1776281 G C,GACACACACACAC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=6;NP=95;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:19:C,GACACACACACAC:3:2:3:0:1,2:23,93:2.18,6.55:2.18,1.74:0.00,4.81:0.00,0.51:0.00,0.79:0.00,0.89:60,60:58.0,29.5:0,1:0,0:127,58:16,80:0,24:NM_015203.3(RPRD2) c.205+7587G>C,NM_015203.3(RPRD2) c.205+7587_205+7588insACACACACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 150367841 . T TTGTGTGTGTGTG 9 idl,nt VT=INS;SST=Single;DP=9;NP=30;NP=5;PC=0.432;Gene=RPRD2/NM_001297673.1/0;CC=c.206-22196_206-22195insGTGTGTGTGTGT;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.206-22196_206-22195insGTGTGTGTGTGT;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.206-22196_206-22195insGTGTGTGTGTGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:T,TTGTGTGTGTGTG:7:7:5:0:4,3:89,158:0.00,9.01:0.00,7.57:0.00,1.44:0.00,0.64:0.00,0.92:0.00,0.89:60,60:15.8,42.7:0,2:0,0:92,58:36,93:2,16:-,NM_015203.3(RPRD2) c.206-22231_206-22230insTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 150389964 rs570597321 GA G 42 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=GA/0.4916,G/0.5084;DB;DBA=NA;PAF=GA/0.4916,G/0.5084;NP=2369;Gene=RPRD2/NM_001297673.1/0;CC=c.206-98delA;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.206-98delA;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.206-98delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:GA,G:13:12:0:12:1,12:35,381:0.00,42.29:0.00,36.63:0.00,5.66:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,2.8:0,0:0,0:13,29:138,121:0,17:-,NM_015203.3(RPRD2) c.206-107delA:-,NOT_FOUND:-,NOT_FOUND 1 150390202 . G . . NT END=150413398;NT GT ./. 1 150390413 rs1260418 C T 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.05831,T/0.9417;PC=0.001;Gene=RPRD2/NM_001297673.1/0;CC=c.335+212C>T;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.335+212C>T;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.335+212C>T;VC=Intron;DM=RPRD2/CTD_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:1:10:301:34.82:0.00:34.82:1.00:0.00:1.00:60:36.2:0:0:106:45:18:NM_015203.3(RPRD2) c.335+212C>T,NM_015203.3(RPRD2) c.335+212C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 150413500 . G . . NT END=150414356;NT GT ./. 1 150414435 . G . . NT END=150415706;NT GT ./. 1 150415631 rs3862206 T G 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.8365,G/0.1635;PC=0.114;Gene=RPRD2/NM_001297673.1/0;CC=c.437-76T>G;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.437-76T>G;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.515-76T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:19:0:0:12,9:334,310:32.79,0.00:26.60,0.00:6.20,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.8,10.7:0,0:0,0:37,27:104,121:21,11:NM_015203.3(RPRD2) c.515-76T>G,-:0.18,-:NOT_FOUND,- 1 150415760 . G . . NT END=150416726;NT GT ./. 1 150416621 rs74124686 G C 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.9455,C/0.05451;PC=0.657;Gene=RPRD2/NM_001297673.1/0;CC=c.490-106G>C;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.490-106G>C;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.568-106G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:35:32:0:0:13,22:374,661:33.56,0.00:28.88,0.00:4.69,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:37.2,5.0:0,0:0,0:57,33:94,114:44,28:NM_015203.3(RPRD2) c.568-106G>C,-:0.06,-:NOT_FOUND,- 1 150416854 . G . . NT END=150418701;NT GT ./. 1 150416913 rs16836940 A G 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.7262,G/0.2738;Gene=RPRD2/NM_001297673.1/0;CC=c.616+60A>G;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.616+60A>G;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.694+60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:9:0:0:19,17:648,482:0.00,45.47:0.00,4.44:0.00,41.03:0.00,1.00:0.00,0.99:0.00,1.00:60,60:9.9,36.5:0,0:0,0:109,120:37,31:29,17:-,NM_015203.3(RPRD2) c.694+60A>G:-,0.29:-,NOT_FOUND 1 150418468 rs6703798 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8369,T/0.1631;Gene=RPRD2/NM_001297673.1/0;CC=c.617-234C>T;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.617-234C>T;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.695-234C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:C,T:4:4:0:0:1,3:13,93:0.00,9.78:0.00,9.78:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:18.0,110.0:0,0:0,0:138,51:13,99:0,37:-,NM_015203.3(RPRD2) c.695-234C>T:-,0.18:-,NOT_FOUND 1 150418501 rs6694168 G A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8367,A/0.1633;Gene=RPRD2/NM_001297673.1/0;CC=c.617-201G>A;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.617-201G>A;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.695-201G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:4:4:0:0:3,1:105,31:10.95,0.00:10.95,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:110.0,0.0:0,0:0,0:84,25:66,126:37,0:NM_015203.3(RPRD2) c.695-201G>A,-:0.18,-:NOT_FOUND,- 1 150418559 rs59681095 G A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7698,A/0.2302;NP=27;PC=0.006;Gene=RPRD2/NM_001297673.1/0;CC=c.617-143G>A;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.617-143G>A;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.695-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G:13:13:0:0:8,5:260,171:26.05,0.00:26.05,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:102.1,10.4:0,0:0,0:23,15:123,136:11,7:NM_015203.3(RPRD2) c.695-143G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 150418878 . G . . NT END=150429763;NT GT ./. 1 150419097 rs12121133 G A 9 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8365,A/0.1635;Gene=RPRD2/NM_001297673.1/0;CC=c.792+220G>A;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.792+220G>A;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.870+220G>A;VC=Intron;DM=RPRD2/CREPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:9:0:0:0:3,6:97,182:8.64,0.00:0.00,0.00:8.64,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:45.7,5.0:0,0:0,0:145,118:5,32:0,16:NM_015203.3(RPRD2) c.870+220G>A,-:0.18,-:NOT_FOUND,- 1 150429507 rs12126327 G C 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8365,C/0.1635;Gene=RPRD2/NM_001297673.1/0;CC=c.793-257G>C;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.793-257G>C;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.871-257G>C;VC=Intron;DM=RPRD2/CREPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,G:12:12:0:0:8,4:236,127:24.08,0.00:22.13,0.00:1.95,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:41.1,0.0:0,0:0,0:58,59:92,91:30,21:NM_015203.3(RPRD2) c.871-257G>C,-:0.18,-:NOT_FOUND,- 1 150429633 rs12126357 G A 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8365,A/0.1635;PC=0.001;Gene=RPRD2/NM_001297673.1/0;CC=c.793-131G>A;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.793-131G>A;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.871-131G>A;VC=Intron;DM=RPRD2/CREPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:20:0:0:12,9:370,306:36.47,0.00:32.00,0.00:4.47,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:66.7,31.0:0,0:0,0:41,27:108,124:33,19:NM_015203.3(RPRD2) c.871-131G>A,-:0.18,-:NOT_FOUND,- 1 150429637 rs12131672 T G 37 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8365,G/0.1635;PC=0.011;Gene=RPRD2/NM_001297673.1/0;CC=c.793-127T>G;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.793-127T>G;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.871-127T>G;VC=Intron;DM=RPRD2/CREPT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:21:0:0:12,13:387,384:36.91,0.00:28.23,0.00:8.68,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:62.6,21.5:0,0:0,0:37,12:114,139:26,11:NM_015203.3(RPRD2) c.871-127T>G,-:0.18,-:NOT_FOUND,- 1 150430047 . G . . NT END=150432535;NT GT ./. 1 150432794 . G . . NT END=150437002;NT GT ./. 1 150432802 rs12029359 G A 100 nt VT=SNV;PN=A;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.858,A/0.142;PC=0.004;Gene=RPRD2/NM_001297673.1/0;CC=c.1333+9G>A;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.1333+9G>A;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.1411+9G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:24:0:0:35,36:1048,1233:100.04,0.00:17.77,0.00:82.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:43.3,3.6:0,0:0,0:108,97:42,53:27,29:NM_015203.3(RPRD2) c.1411+9G>A,-:0.15,-:0.159419,- 1 150432870 rs587659854 GGTT G 17 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=242;PC=0.001;Gene=RPRD2/NM_001297673.1/0;CC=c.1333+102_1333+104delGTT;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.1333+102_1333+104delGTT;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.1411+102_1411+104delGTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:GGTT,G:30:8:0:9:23,7:693,243:0.00,17.27:0.00,0.96:0.00,16.31:0.00,0.95:0.00,0.83:0.00,1.00:60,70:14.8,50.3:0,1:0,0:128,88:23,62:12,9:-,NM_015203.3(RPRD2) c.1411+78_1411+80delGTT:-,NOT_FOUND:-,NOT_FOUND 1 150436844 rs111843239 T TTC 10 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=33;PC=0.147;Gene=RPRD2/NM_001297673.1/0;CC=c.1334-158_1334-157insCT;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.1334-158_1334-157insCT;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.1412-158_1412-157insCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:T,TTC:8:7:4:0:4,4:133,110:0.00,10.49:0.00,10.79:0.00,-0.30:0.00,0.87:0.00,0.99:0.00,0.67:60,60:27.2,65.0:3,0:0,0:84,22:66,128:13,6:-,NM_015203.3(RPRD2) c.1412-159_1412-158insTC:-,0.06:-,NOT_FOUND 1 150437204 . G . . NT END=150443036;NT GT ./. 1 150437215 rs66513313 A G 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.8365,G/0.1635;Gene=RPRD2/NM_001297673.1/0;CC=c.1534+12A>G;VC=Intron;Gene=RPRD2/NM_001297674.1/0;CC=c.1534+12A>G;VC=Intron;Gene=RPRD2/NM_015203.4/1;CC=c.1612+12A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:49:12:0:0:20,1,28:584,14,922:0.00,0.21,91.45:0.00,0.36,14.27:0.00,-0.15,77.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.5,25.0,43.3:0,0,0:0,0,0:76,138,106:75,13,43:40,0,26:-,NM_015203.3(RPRD2) c.1612+12A>G:-,0.18:-,0.239745 1 150445811 . T . . NT END=150459926;NT GT ./. 1 150445819 rs7002 A G 87 nt VT=SNV;PN=C;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.7704,G/0.2296;PC=0.166;Gene=RPRD2/NM_001297673.1/0;CC=c.*1372A>G;VC=3UTR;Gene=RPRD2/NM_001297674.1/0;CC=c.*9A>G;VC=3UTR;Gene=RPRD2/NM_015203.4/1;CC=c.*9A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:21:0:0:33,27:1005,919:0.00,86.91:0.00,16.13:0.00,70.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,40.4:0,0:0,0:95,88:55,62:27,23:-,NM_015203.3(RPRD2) c.*9A>G:-,0.25:-,0.301855 1 150459324 rs74127616 G A 7 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8371,A/0.1629;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,G:7:5:0:0:3,4:76,132:6.95,0.00:5.35,0.00:1.60,0.00:0.69,0.00:0.93,0.00:0.93,0.00:60,60:42.7,18.0:0,0:0,0:61,59:74,59:1,24:NM_025150.3(TARS2) c.-7-u596G>A,-:0.18,-:NOT_FOUND,- 1 150459376 rs375041511 GC G 8 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GC/0.5523,G/0.4477;NP=142;PC=0.003;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:GC,G:6:0:0:3:3,3:52,87:0.00,8.36:0.00,0.00:0.00,8.36:0.00,0.73:0.00,0.00:0.00,0.73:60,60:45.3,24.0:0,0:0,0:112,106:38,10:1,10:-,NM_025150.3(TARS2) c.-7-u543delC:-,NOT_FOUND:-,NOT_FOUND 1 150459426 rs9436009 T A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4982,A/0.5018;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:128:14.71:7.55:7.15:1.00:1.00:1.00:60:37.5:0:0:50:91:30:NM_025150.3(TARS2) c.-7-u494T>A,NM_025150.3(TARS2) c.-7-u494T>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 150459692 rs397844287 GA G 34 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=GA/0.5925,G/0.4075,GT/.;DB;DBA=NA;PAF=GA/0.5925,G/0.4075;NP=429;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:10:10:292:33.96:33.96:0.00:1.00:1.00:0.00:60:40.0:0:0:36:113:9:NM_025150.3(TARS2) c.-7-u227delA,NM_025150.3(TARS2) c.-7-u227delA:0.44,0.44:NOT_FOUND,NOT_FOUND 1 150459715 rs34001546 T C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.9022,C/0.09784;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:8,7:249,213:24.20,0.00:24.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.8,43.1:0,0:0,0:17,49:133,99:8,13:NM_025150.3(TARS2) c.-7-u205T>C,-:0.1,-:NOT_FOUND,- 1 150459993 . G . . NT END=150460333;NT GT ./. 1 150460168 rs2275246 A G 140 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.4916,G/0.5084;Gene=TARS2/NM_001271895.1/0;CC=c.67-166A>G;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.67-166A>G;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.67-166A>G;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:G:41:15:0:0:41:1209:140.25:47.47:92.78:1.00:1.00:1.00:60:47.2:0:0:74:77:45:NM_025150.3(TARS2) c.67-166A>G,NM_025150.3(TARS2) c.67-166A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 150460531 . G . . NT END=150461439;NT GT ./. 1 150461564 . G . . NT END=150463076;NT GT ./. 1 150462811 rs9436118 C T 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5194,T/0.4806;PC=0.003;Gene=TARS2/NM_001271895.1/0;CC=c.388-266C>T;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.388-266C>T;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.388-266C>T;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:35.4:0:0:57:93:37:NM_025150.3(TARS2) c.388-266C>T,NM_025150.3(TARS2) c.388-266C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 150463202 . G . . NT END=150463869;NT GT ./. 1 150463526 rs12145082 T C 7 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8367,C/0.1633;Gene=TARS2/NM_001271895.1/0;CC=c.512+325T>C;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.512+325T>C;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.512+325T>C;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:4:3:0:0:2,2:68,44:6.56,0.00:6.85,0.00:-0.29,0.00:0.51,0.00:0.89,0.00:0.67,0.00:60,60:34.0,21.5:2,1:0,0:7,72:143,78:1,46:NM_025150.3(TARS2) c.512+325T>C,-:0.18,-:NOT_FOUND,- 1 150463772 rs7542068 C G 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.8369,G/0.1631;PC=0.021;Gene=TARS2/NM_001271895.1/0;CC=c.513-98C>G;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.513-98C>G;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.513-98C>G;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:46:0:0:25,21:774,682:0.00,64.46:0.00,60.90:0.00,3.55:0.00,1.00:0.00,1.00:0.00,0.85:60,60:13.8,39.8:0,0:0,0:41,47:110,104:19,18:-,NM_025150.3(TARS2) c.513-98C>G:-,0.18:-,NOT_FOUND 1 150463988 . G . . NT END=150464073;NT GT ./. 1 150464139 . G . . NT END=150464886;NT GT ./. 1 150464603 rs7549396 A G 15 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2873,G/0.7127;PC=0.005;Gene=TARS2/NM_001271895.1/0;CC=c.696-284A>G;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.630+616A>G;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.696-284A>G;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA_SAD;DM=TARS2/tRNA_SAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:127:14.61:12.62:1.99:1.00:1.00:1.00:60:39.5:0:0:22:127:13:NM_025150.3(TARS2) c.696-284A>G,NM_025150.3(TARS2) c.696-284A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 150464966 . G . . NT END=150468957;NT GT ./. 1 150468842 rs1343965 A G 48 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.8371,G/0.1629;Gene=TARS2/NM_001271895.1/0;CC=c.775-1164A>G;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.631-1164A>G;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.775-116A>G;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA_SAD;DM=TARS2/tRNA_SAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:33:0:0:16,17:497,499:0.00,48.05:0.00,46.57:0.00,1.48:0.00,1.00:0.00,1.00:0.00,0.90:60,60:8.8,43.9:0,0:0,0:48,60:102,91:25,36:-,NM_025150.3(TARS2) c.775-116A>G:-,0.18:-,NOT_FOUND 1 150469105 . G . . NT END=150469285;NT GT ./. 1 150469385 . G . . NT END=150470005;NT GT ./. 1 150470224 . G . . NT END=150470977;NT GT ./. 1 150470296 rs11588874 G A 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.8371,A/0.1629;Gene=TARS2/NM_001271895.1/0;CC=c.992+73G>A;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.848+73G>A;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1238+73G>A;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA-synt_2b;DM=TARS2/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:6:0:0:27,19:894,536:88.82,0.00:6.89,0.00:81.93,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:50.1,45.5:0,0:0,0:83,90:68,59:27,32:NM_025150.3(TARS2) c.1238+73G>A,-:0.18,-:NOT_FOUND,- 1 150470322 rs11590324 C A 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7554,A/0.2446;PC=0.002;Gene=TARS2/NM_001271895.1/0;CC=c.992+99C>A;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.848+99C>A;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1238+99C>A;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA-synt_2b;DM=TARS2/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:41:0:0:0:15,26:474,825:42.88,0.00:0.00,0.00:42.88,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:54.7,48.0:0,0:0,0:109,96:40,53:20,30:NM_025150.3(TARS2) c.1238+99C>A,-:0.26,-:NOT_FOUND,- 1 150471141 . G . . NT END=150471372;NT GT ./. 1 150471156 rs34542152 C T 194 nt VT=SNV;PN=G;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.9595,T/0.04054;Gene=TARS2/NM_001271895.1/0;CC=c.1155+16C>T;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1011+16C>T;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1401+16C>T;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA-synt_2b;DM=TARS2/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:129:67:0:0:65,64:2166,2027:0.00,194.38:0.00,67.69:0.00,126.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,39.1:0,0:0,0:100,86:45,62:31,24:-,NM_025150.3(TARS2) c.1401+16C>T:-,0.04:-,0.067354 1 150471511 . G . . NT END=150471691;NT GT ./. 1 150471770 . G . . NT END=150476810;NT GT ./. 1 150471848 rs397793354 A AT 79 rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.531,AT/0.469;DB;DBA=NA;PAF=A/0.531,AT/0.469;NP=1059;PC=0.001;Gene=TARS2/NM_001271895.1/0;CC=c.1371+90_1371+91insT;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1227+90_1227+91insT;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1617+90_1617+91insT;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA-synt_2b;DM=TARS2/HGTP_anticodon;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:37:2:25:0:12,1,24:375,24,810:0.00,1.17,79.15:0.00,-0.01,1.16:0.00,1.19,78.00:0.00,0.00,1.00:0.00,0.00,0.89:0.00,0.00,1.00:60,60,60:7.5,24.0,9.2:0,0,1:0,0,0:144,0,89:7,150,59:5,0,30:-,NM_025150.3(TARS2) c.1617+79_1617+80insT:-,NOT_FOUND:-,NOT_FOUND 1 150471935 rs397734400 G GT 30 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9022,GT/0.09784;DB;DBA=NA;PAF=G/0.9022,GT/0.09784;NP=76;PC=0.004;Gene=TARS2/NM_001271895.1/0;CC=c.1371+168_1371+169insT;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1227+168_1227+169insT;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1617+168_1617+169insT;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA-synt_2b;DM=TARS2/HGTP_anticodon;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:G,GT:14:0:9:0:5,9:173,299:0.00,30.23:0.00,0.00:0.00,30.23:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.4,2.7:0,0:0,0:77,104:73,46:40,30:-,NM_025150.3(TARS2) c.1617+166_1617+167insT:-,0.09:-,NOT_FOUND 1 150476912 . G . . NT END=150477107;NT GT ./. 1 150477061 rs3738487 C T 117 nt VT=SNV;PN=T;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.7762,T/0.2238;Gene=TARS2/NM_001271895.1/0;CC=c.1473-47C>T;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1329-47C>T;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1719-47C>T;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA-synt_2b;DM=TARS2/HGTP_anticodon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:51:0:0:31,38:955,1198:0.00,117.33:0.00,68.06:0.00,49.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.1,39.5:0,0:0,0:49,46:98,103:37,33:-,NM_025150.3(TARS2) c.1719-47C>T:-,0.25:-,0.303014 1 150477085 rs587654425 A AC 65 idl,rn VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=412;Gene=TARS2/NM_001271895.1/0;CC=c.1473-15dupC;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1329-15dupC;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1719-15dupC;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/tRNA-synt_2b;DM=TARS2/HGTP_anticodon;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AC:73:55:27:0:45,3,25:1256,72,793:0.00,3.84,65.02:0.00,-0.43,54.09:0.00,4.28,10.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:36.9,40.3,34.1:1,2,2:0,0,0:71,39,37:79,111,109:37,21,33:-,NM_025150.3(TARS2) c.1719-23_1719-22insC:-,NOT_FOUND:-,NOT_FOUND 1 150477210 . G . . NT END=150477381;NT GT ./. 1 150477455 . G . . NT END=150478066;NT GT ./. 1 150477840 rs34609268 G C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9772,C/0.02276;Gene=TARS2/NM_001271895.1/0;CC=c.1648-227G>C;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1504-227G>C;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.1894-227G>C;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/HGTP_anticodon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,G:7:7:0:0:3,4:105,134:9.86,0.00:9.86,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:35.0,8.2:0,0:0,0:48,58:102,92:34,29:NM_025150.3(TARS2) c.1894-227G>C,-:0.03,-:NOT_FOUND,- 1 150478182 . G . . NT END=150479391;NT GT ./. 1 150478962 rs56830975 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=TARS2/NM_001271895.1/0;CC=c.1763-430G>A;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1619-430G>A;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.2009-430G>A;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/HGTP_anticodon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:3:0:0:3,1:96,32:10.05,0.00:6.60,0.00:3.45,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:37.3,55.0:1,1:0,0:138,37:12,113:8,0:NM_025150.3(TARS2) c.2009-430G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 150479050 rs142997002 GACAC G 17 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=18;Gene=TARS2/NM_001271895.1/0;CC=c.1763-312_1763-309delCACA;VC=Intron;Gene=TARS2/NM_001271896.1/0;CC=c.1619-312_1619-309delCACA;VC=Intron;Gene=TARS2/NM_025150.4/1;CC=c.2009-312_2009-309delCACA;VC=Intron;Gene=TARS2/NR_073513.1/0;VC=NonCoding;Gene=TARS2/NR_073514.1/0;VC=NonCoding;DM=TARS2/HGTP_anticodon;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:GACAC,G:7:9:0:7:2,5:41,230:0.00,17.32:0.00,12.24:0.00,5.08:0.00,0.96:0.00,0.96:0.00,0.92:60,60:27.5,16.0:0,2:0,0:111,54:22,54:13,19:-,NM_025150.3(TARS2) c.2009-341_2009-338delACAC:-,NOT_FOUND:-,NOT_FOUND 1 150479541 . G . . NT END=150480685;NT GT ./. 1 150480571 rs12724450 G A 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.9467,A/0.05331;PC=0.844;Gene=ECM1/NM_001202858.1/0;CC=c.-115G>A;VC=5UTR;Gene=ECM1/NM_004425.3/1;CC=c.-115G>A;VC=5UTR;Gene=ECM1/NM_022664.2/0;CC=c.-115G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:30:0:0:14,16:455,490:43.19,0.00:43.33,0.00:-0.14,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:35.0,12.8:0,0:0,0:25,32:124,119:15,20:NM_004425.3(ECM1) c.-115G>A,-:0.06,-:NOT_FOUND,- 1 150480756 . G . . NT END=150482006;NT GT ./. 1 150482058 . G . . NT END=150482136;NT GT ./. 1 150482239 . G . . NT END=150482310;NT GT ./. 1 150482479 . G . . NT END=150482577;NT GT ./. 1 150482659 . G . . NT END=150483351;NT GT ./. 1 150482738 rs11205387 G A 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.75,A/0.25;Gene=ECM1/NM_001202858.1/0;CC=c.466+80G>A;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.385+80G>A;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.385+80G>A;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:3:0:0:15,15:493,475:47.43,0.00:2.47,0.00:44.95,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:41.5,7.7:0,0:0,0:112,103:39,48:22,17:NM_004425.3(ECM1) c.385+80G>A,-:0.27,-:NOT_FOUND,- 1 150483236 rs9661040 A C 106 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.4942,C/0.5058;Gene=ECM1/NM_001202858.1/0;CC=c.467-116A>C;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.386-116A>C;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.386-116A>C;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:32:0:0:32:910:106.12:106.12:0.00:1.00:1.00:0.00:60:57.1:0:0:39:111:29:NM_004425.3(ECM1) c.386-116A>C,NM_004425.3(ECM1) c.386-116A>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 150483355 rs3737240 C T 176 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.7762,T/0.2238;PC=0.189;Gene=ECM1/NM_001202858.1/0;CC=c.470C>T;ProtCh=p.T157M;VC=Missense;Gene=ECM1/NM_004425.3/1;CC=c.389C>T;ProtCh=p.T130M;VC=Missense;Gene=ECM1/NM_022664.2/0;CC=c.389C>T;ProtCh=p.T130M;VC=Missense;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:97:88:0:0:41,56:1379,1785:0.00,176.44:0.00,123.78:0.00,52.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,43.7:0,0:0,0:60,49:85,90:38,27:-,NM_004425.3(ECM1) c.389C>T (p.Thr130Met):-,0.24:-,0.295898 1 150483675 . G . . NT END=150483932;NT GT ./. 1 150483840 rs4970979 C T 257 nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.5337,T/0.4663;Gene=ECM1/NM_001202858.1/0;CC=c.790-93C>T;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.709-93C>T;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.708+166C>T;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G,T:71:59:0:0:1,70:12,2239:0.21,256.75:0.21,173.44:0.00,83.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,38.9:0,0:0,0:132,35:19,112:0,21:NM_004425.3(ECM1) c.709-93C>T,NM_004425.3(ECM1) c.709-93C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 150484004 rs11801190 G A 157 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.9006,A/0.09944;Gene=ECM1/NM_001202858.1/0;CC=c.861G>A;ProtCh=p.T287=;VC=Silent;Gene=ECM1/NM_004425.3/1;CC=c.780G>A;ProtCh=p.T260=;VC=Silent;Gene=ECM1/NM_022664.2/0;CC=c.708+330G>A;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:129:88:0:0:55,1,73:1686,12,2328:156.88,-0.12,0.00:80.89,0.00,0.00:75.99,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.8,231.0,8.7:0,0,0:0,0,0:66,113,69:82,38,76:28,0,24:NM_004425.3(ECM1) c.780G>A (p.(=)),-:0.1,-:0.134246,- 1 150484308 . G . . NT END=150484827;NT GT ./. 1 150484395 rs149815479 ACC A 180 nt VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=ACC/0.5218,A/0.4782;NP=1575;PC=0.001;Gene=ECM1/NM_001202858.1/0;CC=c.1164+94_1164+95delCC;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.1083+94_1083+95delCC;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.709-427_709-426delCC;VC=Intron;DM=ECM1/ECM1;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:ACC,A:59:17:0:55:6,53:185,1635:0.00,180.34:0.00,29.72:0.00,150.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,9.1:0,0:0,0:141,110:4,40:7,15:-,NM_004425.3(ECM1) c.1083+89_1083+90delCC:-,NOT_FOUND:-,NOT_FOUND 1 150484555 rs875514 C G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5339,G/0.4661;PC=0.007;Gene=ECM1/NM_001202858.1/0;CC=c.1164+248C>G;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.1083+248C>G;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.709-273C>G;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:4:0:0:7:223:25.64:14.61:11.03:1.00:1.00:1.00:60:46.1:0:0:80:71:65:NM_004425.3(ECM1) c.1083+248C>G,NM_004425.3(ECM1) c.1083+248C>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 150484987 rs13294 G A 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.7334,A/0.2666;PC=1.000;Gene=ECM1/NM_001202858.1/0;CC=c.1324G>A;ProtCh=p.G442S;VC=Missense;Gene=ECM1/NM_004425.3/1;CC=c.1243G>A;ProtCh=p.G415S;VC=Missense;Gene=ECM1/NM_022664.2/0;CC=c.868G>A;ProtCh=p.G290S;VC=Missense;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:66:0:0:45,55:1528,1652:144.43,0.00:63.57,0.00:80.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,9.7:0,0:0,0:72,97:73,47:30,35:NM_004425.3(ECM1) c.1243G>A (p.Gly415Ser),-:0.28,-:0.342227,- 1 150485049 . G . . NT END=150485200;NT GT ./. 1 150485289 . G . . NT END=150485712;NT GT ./. 1 150485531 rs945715 T C 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.01937,C/0.9806;PC=0.333;Gene=ECM1/NM_001202858.1/0;CC=c.1474-182T>C;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.1393-182T>C;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.1018-182T>C;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:10:0:0:14:462:52.86:37.15:15.71:1.00:1.00:1.00:60:82.7:0:0:83:66:44:NM_004425.3(ECM1) c.1393-182T>C,NM_004425.3(ECM1) c.1393-182T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 150485566 rs12031973 T G 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=ECM1/NM_001202858.1/0;CC=c.1474-147T>G;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.1393-147T>G;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.1018-147T>G;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:14:0:0:16:469:54.48:47.93:6.55:1.00:1.00:1.00:60:86.5:0:0:68:82:43:NM_004425.3(ECM1) c.1393-147T>G,NM_004425.3(ECM1) c.1393-147T>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 150485571 rs12031974 T C 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2057;Gene=ECM1/NM_001202858.1/0;CC=c.1474-142T>C;VC=Intron;Gene=ECM1/NM_004425.3/1;CC=c.1393-142T>C;VC=Intron;Gene=ECM1/NM_022664.2/0;CC=c.1018-142T>C;VC=Intron;DM=ECM1/ECM1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:14:0:0:16:519:59.48:53.98:5.51:1.00:1.00:1.00:60:85.2:0:0:66:83:47:NM_004425.3(ECM1) c.1393-142T>C,NM_004425.3(ECM1) c.1393-142T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 150485944 . G . . NT END=150524764;NT GT ./. 1 150524785 . G . . NT END=150525018;NT GT ./. 1 150525077 . G . . NT END=150525373;NT GT ./. 1 150525730 . G . . NT END=150525901;NT GT ./. 1 150526044 rs41317515 G C 195 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.4716,A/.,C/0.5284;Gene=ADAMTSL4/NM_025008.4/0;CC=c.577G>C;ProtCh=p.A193P;VC=Missense;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.577G>C;ProtCh=p.A193P;VC=Missense;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.577G>C;ProtCh=p.A193P;VC=Missense;Gene=ADAMTSL4/NM_019032.5/1;CC=c.577G>C;ProtCh=p.A193P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:108:72:0:0:61,47:1983,1536:195.18,0.00:87.51,0.00:107.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,16.9:0,0:0,0:97,48:49,94:34,33:NM_019032.4(ADAMTSL4) c.577G>C (p.Ala193Pro),-:0.56,-:0.547055,- 1 150526599 . G . . NT END=150526840;NT GT ./. 1 150526944 . G . . NT END=150527041;NT GT ./. 1 150527111 . G . . NT END=150527904;NT GT ./. 1 150527292 rs9659061 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4872,A/0.5128;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1234+349G>A;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1303+182G>A;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1303+182G>A;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1234+349G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:7,9:229,291:21.48,0.00:0.00,0.00:21.48,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:89.0,23.7:0,0:0,0:80,106:62,45:43,17:NM_019032.4(ADAMTSL4) c.1234+349G>A,-:0.55,-:NOT_FOUND,- 1 150527294 rs12124948 C T 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7109,T/0.2891;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1234+351C>T;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1303+184C>T;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1303+184C>T;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1234+351C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:8,6:204,202:0.00,18.96:0.00,0.00:0.00,18.96:0.00,0.96:0.00,0.00:0.00,0.96:60,60:26.6,98.5:0,0:0,0:103,76:48,64:18,37:-,NM_019032.4(ADAMTSL4) c.1234+351C>T:-,0.34:-,NOT_FOUND 1 150527354 rs9659073 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5533,A/0.4467;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1234+411G>A;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1303+244G>A;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1303+244G>A;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1234+411G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:7:0:0:0:5,2:172,65:17.77,0.00:0.00,0.00:17.77,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:96.0,80.0:0,0:0,0:91,94:60,55:51,11:NM_019032.4(ADAMTSL4) c.1234+411G>A,-:0.49,-:NOT_FOUND,- 1 150528042 . G . . NT END=150528637;NT GT ./. 1 150528090 rs78086750 G GACAC 67 nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9395,C/0.0605;NP=1489;PC=0.001;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1371+54_1371+55insCACA;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1440+54_1440+55insCACA;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1440+54_1440+55insCACA;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1371+54_1371+55insCACA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,GACAC:59:22:24:0:1,2,32,24:13,67,1060,720:0.05,4.24,0.00,66.82:0.23,-0.12,0.00,18.45:-0.18,4.36,0.00,48.37:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:55.0,47.5,4.9,12.0:0,0,1,0:0,0,0,0:149,52,124,97:1,98,24,53:0,25,13,21:-,NM_019032.4(ADAMTSL4) c.1371+49_1371+50insACAC:-,NOT_FOUND:-,0.607497 1 150528118 rs149100901 T TACAC 60 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.2913,TACAC/0.6891,TACACAC/0.01957;DB;DBA=NA;PAF=T/0.2913,TAC/.,TACAC/0.6891,TACACAC/0.01957;NP=217;PC=0.074;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1371+84_1371+85insCACA;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1440+84_1440+85insCACA;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1440+84_1440+85insCACA;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1371+84_1371+85insCACA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TACAC:43:10:21:0:1,21,21:35,646,627:2.13,0.00,60.08:2.31,0.00,6.29:-0.18,0.00,53.79:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:94.0,6.2,21.0:1,0,0:0,0,0:84,129,89:67,19,62:0,20,34:-,NM_019032.4(ADAMTSL4) c.1371+77_1371+78insACAC:-,NOT_FOUND:-,NOT_FOUND 1 150528175 rs397750963 GCA G 37 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=647;PC=0.010;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1371+137_1371+138delCA;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1440+137_1440+138delCA;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1440+137_1440+138delCA;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1371+137_1371+138delCA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCA,G:24:2:0:13:11,13:304,375:0.00,36.53:0.00,4.36:0.00,32.17:0.00,1.00:0.00,0.82:0.00,1.00:60,60:9.7,49.8:1,0:0,0:131,82:19,69:19,33:-,NM_019032.4(ADAMTSL4) c.1371+135_1371+136delCA:-,0.68:-,NOT_FOUND 1 150528208 rs9728540 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4744,T/0.5256;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1371+167C>T;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1440+167C>T;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1440+167C>T;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1371+167C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:2:0:0:10,13:212,333:0.00,32.68:0.00,1.40:0.00,31.28:0.00,1.00:0.00,0.84:0.00,1.00:60,60:48.6,51.9:0,0:0,0:42,103:108,48:29,34:-,NM_019032.4(ADAMTSL4) c.1371+167C>T:-,NOT_FOUND:-,NOT_FOUND 1 150528843 . G . . NT END=150529096;NT GT ./. 1 150529270 . G . . NT END=150529414;NT GT ./. 1 150529322 rs34379037 T TAA 260 nt VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.05411,TAA/0.9459;NP=2103;PC=0.002;Gene=ADAMTSL4/NM_025008.4/0;CC=c.1749+53_1749+54insAA;VC=Intron;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.1818+53_1818+54insAA;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.1818+53_1818+54insAA;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.1749+53_1749+54insAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:T,TAA:86:50:76:0:10,76:287,2373:0.00,260.14:0.00,137.33:0.00,122.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,7.5:0,0:0,0:147,73:1,78:1,37:-,NM_019032.4(ADAMTSL4) c.1749+53_1749+54insAA:-,NOT_FOUND:-,NOT_FOUND 1 150529527 . G . . NT END=150529625;NT GT ./. 1 150529812 . G . . NT END=150529969;NT GT ./. 1 150530100 . G . . NT END=150530420;NT GT ./. 1 150530626 . G . . NT END=150530732;NT GT ./. 1 150531008 rs10888382 T C 675 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=T/0.1855,C/0.8145;Gene=ADAMTSL4/NM_025008.4/0;CC=c.2442T>C;ProtCh=p.N814=;VC=Silent;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.2325T>C;ProtCh=p.N775=;VC=Silent;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.2511T>C;ProtCh=p.N837=;VC=Silent;Gene=ADAMTSL4/NM_019032.5/1;CC=c.2442T>C;ProtCh=p.N814=;VC=Silent;DM=ADAMTSL4/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:187:116:0:0:187:5867:675.45:352.35:323.11:1.00:1.00:1.00:60:62.1:0:0:76:68:35:NM_019032.4(ADAMTSL4) c.2442T>C (p.(=)),NM_019032.4(ADAMTSL4) c.2442T>C (p.(=)):0.84,0.84:0.867523,0.867523 1 150531050 rs10749657 G A 647 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=G/0.1216,A/0.8784;Gene=ADAMTSL4/NM_025008.4/0;CC=c.2484G>A;ProtCh=p.P828=;VC=Silent;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.2367G>A;ProtCh=p.P789=;VC=Silent;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.2553G>A;ProtCh=p.P851=;VC=Silent;Gene=ADAMTSL4/NM_019032.5/1;CC=c.2484G>A;ProtCh=p.P828=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:179:117:0:0:179:5619:647.01:316.50:330.51:1.00:1.00:1.00:60:67.5:0:0:77:73:35:NM_019032.4(ADAMTSL4) c.2484G>A (p.(=)),NM_019032.4(ADAMTSL4) c.2484G>A (p.(=)):0.88,0.88:0.843534,0.843534 1 150531170 rs10749658 C T 605 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=168;DB;DBA=NA;PAF=C/0.07847,T/0.9215;Gene=ADAMTSL4/NM_025008.4/0;CC=c.2604C>T;ProtCh=p.H868=;VC=Silent;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.2442+45C>T;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.2628+45C>T;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.2559+45C>T;VC=Intron;DM=ADAMTSL4/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:168:94:0:0:1,2,165:12,19,5293:0.00,0.23,604.97:0.00,0.18,233.95:0.00,0.05,371.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:56.0,57.0,46.1:0,0,0:0,0,0:132,60,82:19,90,68:0,60,40:NM_019032.4(ADAMTSL4) c.2559+45C>T,NM_019032.4(ADAMTSL4) c.2559+45C>T:0.93,0.93:0.915962,0.915962 1 150531224 . g . . NT END=150531437;NT GT ./. 1 150531380 rs11204664 T C 146 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.4758,C/0.5242;PC=0.002;Gene=ADAMTSL4/NM_001288607.1/0;CC=c.2443-58T>C;VC=Intron;Gene=ADAMTSL4/NM_001288608.1/0;CC=c.2629-58T>C;VC=Intron;Gene=ADAMTSL4/NM_019032.5/1;CC=c.2560-58T>C;VC=Intron;DM=ADAMTSL4/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:102:69:0:0:50,1,51:1527,5,1667:146.15,-0.20,0.00:75.21,-0.13,0.00:70.93,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.8,184.0,9.5:0,0,0:0,0,0:45,101,58:100,50,93:34,0,32:NM_019032.4(ADAMTSL4) c.2560-58T>C,-:0.55,-:NOT_FOUND,- 1 150531642 . G . . NT END=150531762;NT GT ./. 1 150531943 . G . . NT END=150532236;NT GT ./. 1 150532382 . G . . NT END=150532535;NT GT ./. 1 150532673 . A . . NT END=150549839;NT GT ./. 1 150549968 . C . . NT END=150550719;NT GT ./. 1 150550019 rs397981521 T TA 157 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3400;PC=0.047;Gene=MCL1/NM_001197320.1/1;CC=c.478-53dupT;VC=Intron;Gene=MCL1/NM_021960.4/0;CC=c.937-53dupT;VC=Intron;Gene=MCL1/NM_182763.2/0;CC=c.689-53dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,T,TA:51:17:45:0:1,5,45:29,150,1425:1.64,0.00,156.86:1.68,0.00,33.63:-0.04,0.00,123.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:68.0,12.6,6.0:1,0,0:0,0,0:68,146,104:60,2,31:0,3,26:-,NM_021960.4(MCL1) c.937-53_937-52insT:-,NOT_FOUND:-,NOT_FOUND 1 150550968 . C . . NT END=150551318;NT GT ./. 1 150552007 . T . . NT END=150595319;NT GT ./. 1 150552042 rs16837903 G A 174 nt VT=SNV;PN=G;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.9397,A/0.0603;PC=0.013;Gene=MCL1/NM_001197320.1/1;CC=c.-36C>T;VC=5UTR;Gene=MCL1/NM_021960.4/0;CC=c.-36C>T;VC=5UTR;Gene=MCL1/NM_182763.2/0;CC=c.-36C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:112:51:0:0:56,55,1:1806,1729,18:173.84,0.00,0.21:47.60,0.00,-0.05:126.25,0.00,0.26:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.4,7.6,18.0:0,0,0:0,0,0:91,94,135:56,53,16:30,22,0:NM_021960.4(MCL1) c.-36C>T,-:0.08,-:0.091163,- 1 150595336 . C . . NT END=150595753;NT GT ./. 1 150595354 rs587660137 G GA 15 idl,rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1;PC=1.000;Gene=ENSA/NM_207045.1/0;CC=c.387-20dupT;VC=Intron;Gene=ENSA/NM_207046.1/0;CC=c.339-20dupT;VC=Intron;Gene=ENSA/NM_004436.2/0;CC=c.351-20dupT;VC=Intron;Gene=ENSA/NM_207042.1/1;CC=c.399-20dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G,GA,D:64:41:8:6:6,47,7,4:155,1440,243,161:10.28,0.00,15.16,8.58:-0.85,0.00,11.44,6.10:11.13,0.00,3.72,2.48:0.00,0.00,0.89,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.98,0.00:60,60,60,60:108.2,22.9,30.4,35.8:2,0,1,1:0,0,0,0:48,102,75,89:103,45,63,62:21,28,15,3:-,NM_207042.1(ENSA) c.399-20_399-19insT:-,NOT_FOUND:-,NOT_FOUND 1 150597261 rs1971378 G A 116 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.6693,A/0.3307;PC=0.161;Gene=ENSA/NM_207045.1/0;CC=c.386+857C>T;VC=Intron;Gene=ENSA/NM_207046.1/0;CC=c.338+857C>T;VC=Intron;Gene=ENSA/NM_004436.2/0;CC=c.350+857C>T;VC=Intron;Gene=ENSA/NM_207042.1/1;CC=c.398+857C>T;VC=Intron;Gene=ENSA/NM_207047.1/0;CC=c.*853C>T;VC=3UTR;Gene=ENSA/NM_207043.1/0;CC=c.*853C>T;VC=3UTR;Gene=ENSA/NM_207044.1/0;CC=c.*853C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:76:29:0:0:40,34,2:1189,1019,30:115.72,0.00,0.78:24.73,0.00,0.08:90.99,0.00,0.69:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,55:39.2,5.6,44.5:0,0,0:0,0,0:76,91,45:70,54,105:35,29,35:NM_207042.1(ENSA) c.398+857C>T,-:0.38,-:NOT_FOUND,- 1 150597890 rs1053732 G A 175 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.6689,A/0.3311;Gene=ENSA/NM_207045.1/0;CC=c.386+228C>T;VC=Intron;Gene=ENSA/NM_207046.1/0;CC=c.338+228C>T;VC=Intron;Gene=ENSA/NM_004436.2/0;CC=c.350+228C>T;VC=Intron;Gene=ENSA/NM_207042.1/1;CC=c.398+228C>T;VC=Intron;Gene=ENSA/NM_207047.1/0;CC=c.*224C>T;VC=3UTR;Gene=ENSA/NM_207043.1/0;CC=c.*224C>T;VC=3UTR;Gene=ENSA/NM_207044.1/0;CC=c.*224C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:79:0:0:57,62:1832,1914:174.60,0.00:99.45,0.00:75.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,14.8:0,0:0,0:68,81:73,68:34,34:NM_207042.1(ENSA) c.398+228C>T,-:0.38,-:NOT_FOUND,- 1 150598285 . C . . NT END=150598954;NT GT ./. 1 150599003 . C . . NT END=150599521;NT GT ./. 1 150600069 . C . . NT END=150601536;NT GT ./. 1 150600181 rs2280078 C T 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.388,T/0.612;Gene=ENSA/NM_207045.1/0;CC=c.46-113G>A;VC=Intron;Gene=ENSA/NM_207046.1/0;CC=c.46-113G>A;VC=Intron;Gene=ENSA/NM_004436.2/0;CC=c.58-113G>A;VC=Intron;Gene=ENSA/NM_207042.1/1;CC=c.58-113G>A;VC=Intron;Gene=ENSA/NM_207047.1/0;CC=c.46-113G>A;VC=Intron;Gene=ENSA/NM_207043.1/0;CC=c.58-113G>A;VC=Intron;Gene=ENSA/NM_207044.1/0;CC=c.58-113G>A;VC=Intron;Gene=ENSA/NM_207168.1/0;CC=c.58-113G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:0:0:0:18,11:530,374:0.00,34.33:0.00,0.00:0.00,34.33:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.7,46.5:0,0:0,0:110,110:41,40:26,19:-,NM_207042.1(ENSA) c.58-113G>A:-,0.64:-,NOT_FOUND 1 150601610 . A . . NT END=150601889;NT GT ./. 1 150601947 . G . . NT END=150620796;NT GT ./. 1 150620569 rs3087960 C G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5915,G/0.4085;PC=0.002;Gene=GOLPH3L/NM_018178.5/1;CC=c.*228G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:42.8:0:0:120:30:13:NM_018178.5(GOLPH3L) c.*228G>C,NM_018178.5(GOLPH3L) c.*228G>C:0.38,0.38:NOT_FOUND,NOT_FOUND 1 150621225 . C . . NT END=150634289;NT GT ./. 1 150634405 . C . . NT END=150636107;NT GT ./. 1 150635774 rs6587517 T C 15 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1959,C/0.8041;Gene=GOLPH3L/NM_018178.5/1;CC=c.315+334A>G;VC=Intron;DM=GOLPH3L/GPP34;DM=GOLPH3L/GPP34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:131:15.01:13.12:1.89:1.00:1.00:1.00:60:106.8:0:0:67:75:26:NM_018178.5(GOLPH3L) c.315+334A>G,NM_018178.5(GOLPH3L) c.315+334A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 150635811 rs6686525 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5909,T/0.4091;PC=0.002;Gene=GOLPH3L/NM_018178.5/1;CC=c.315+297G>A;VC=Intron;DM=GOLPH3L/GPP34;DM=GOLPH3L/GPP34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:7:6:0:0:4,3:128,100:0.00,9.36:0.00,6.05:0.00,3.31:0.00,0.69:0.00,0.95:0.00,0.62:60,60:95.0,89.3:0,0:0,0:33,95:116,56:10,52:-,NM_018178.5(GOLPH3L) c.315+297G>A:-,0.39:-,NOT_FOUND 1 150636240 . C . . NT END=150667131;NT GT ./. 1 150666990 rs2867300 G C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5911,C/0.4089,T/.;Gene=GOLPH3L/NM_018178.5/1;CC=c.183+142C>G;VC=Intron;DM=GOLPH3L/GPP34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,G:10:10:0:0:7,3:234,86:24.10,0.00:24.10,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.0,7.3:0,0:0,0:52,39:98,112:21,37:NM_018178.5(GOLPH3L) c.183+142C>G,-:0.39,-:NOT_FOUND,- 1 150667315 . T . . NT END=150671129;NT GT ./. 1 150671211 . C . . NT END=150672587;NT GT ./. 1 150671243 rs139837908 AC A 27 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=AC/0.5911,A/0.4089;NP=2131;PC=0.360;Gene=HORMAD1/NM_001199829.1/0;CC=c.1084-34delG;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.1105-34delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:19:12:0:9:10,9:305,282:0.00,26.79:0.00,8.12:0.00,18.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,5.3:0,0:0,0:115,94:35,46:14,24:-,NM_032132.4(HORMAD1) c.1105-34delG:-,0.39:-,0.372164 1 150671444 rs6688430 C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03115,G/0.9688;Gene=HORMAD1/NM_001199829.1/0;CC=c.1084-234G>C;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.1105-234G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:112:13.06:0.00:13.06:1.00:0.00:1.00:60:36.8:0:0:91:59:37:NM_032132.4(HORMAD1) c.1105-234G>C,NM_032132.4(HORMAD1) c.1105-234G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 150672660 . C . . NT END=150675785;NT GT ./. 1 150675870 . C . . NT END=150676593;NT GT ./. 1 150676485 rs12403609 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6669,C/0.3331;PC=0.812;Gene=HORMAD1/NM_001199829.1/0;CC=c.927+109A>G;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.948+109A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:7,14:240,390:21.55,0.00:21.55,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:34.3,4.7:0,0:0,0:71,44:79,107:3,36:NM_032132.4(HORMAD1) c.948+109A>G,-:0.39,-:NOT_FOUND,- 1 150676671 . C . . NT END=150676752;NT GT ./. 1 150676674 rs367543855 TA T 24 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=40;PC=0.441;Gene=HORMAD1/NM_001199829.1/0;CC=c.851-5delT;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.872-5delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:TA,I,T:43:28:6:10:30,4,9:852,180,319:0.00,8.59,23.70:0.00,5.53,9.46:0.00,3.06,14.24:0.00,0.00,0.98:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:22.9,36.0,7.8:1,2,1:0,0,0:97,65,49:27,85,87:35,30,8:-,NM_032132.4(HORMAD1) c.872-5delT:-,NOT_FOUND:-,NOT_FOUND 1 150676820 . C . . NT END=150679028;NT GT ./. 1 150678910 rs1336899 T C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5982,C/0.4018;PC=0.984;Gene=HORMAD1/NM_001199829.1/0;CC=c.783+119A>G;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.804+119A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,C,T:12:12:0:0:1,3,8:19,86,276:1.01,7.23,0.00:1.01,7.23,0.00:0.00,0.00,0.00:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.00,0.00:60,60,60:61.0,37.0,14.6:0,0,0:0,0,0:66,69,20:84,82,130:0,2,16:NM_032132.4(HORMAD1) c.804+119A>G,-:0.38,-:NOT_FOUND,- 1 150679033 rs1336900 G A 55 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6144,A/0.3856;PC=0.039;Gene=HORMAD1/NM_001199829.1/0;CC=c.779C>T;ProtCh=p.T260I;VC=Missense;Gene=HORMAD1/NM_032132.4/1;CC=c.800C>T;ProtCh=p.T267I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:35:0:0:18,20:580,668:55.17,0.00:47.45,0.00:7.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,8.5:0,0:0,0:60,66:89,84:42,43:NM_032132.4(HORMAD1) c.800C>T (p.Thr267Ile),-:0.36,-:0.347047,- 1 150679286 . C . . NT END=150680731;NT GT ./. 1 150679358 rs11586422 C T 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5909,T/0.4091;Gene=HORMAD1/NM_001199829.1/0;CC=c.527-73G>A;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.548-73G>A;VC=Intron;DM=HORMAD1/HORMA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,T:23:6:0:0:7,16:187,527:0.00,54.16:0.00,13.17:0.00,40.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,34.2:0,0:0,0:66,89:85,61:34,20:-,NM_032132.4(HORMAD1) c.548-73G>A:-,0.39:-,NOT_FOUND 1 150680884 . C . . NT END=150681369;NT GT ./. 1 150680988 rs3768005 A T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.6134,T/0.3866;Gene=HORMAD1/NM_001199829.1/0;CC=c.375-105T>A;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.396-105T>A;VC=Intron;DM=HORMAD1/HORMA;DM=HORMAD1/HORMA;DM=HORMAD1/HORMA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:3:0:0:17,9:583,251:0.00,22.09:0.00,2.52:0.00,19.56:0.00,0.99:0.00,0.74:0.00,1.00:60,60:7.9,43.1:0,0:0,0:114,105:35,45:15,19:-,NM_032132.4(HORMAD1) c.396-105T>A:-,0.36:-,NOT_FOUND 1 150681438 . C . . NT END=150684020;NT GT ./. 1 150684048 . C . . NT END=150684308;NT GT ./. 1 150684330 . C . . NT END=150686560;NT GT ./. 1 150686598 . C . . NT END=150687090;NT GT ./. 1 150686633 rs34593358 A T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.8381,C/.,T/0.1619;PC=0.001;Gene=HORMAD1/NM_001199829.1/0;CC=c.243-36T>A;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.243-36T>A;VC=Intron;DM=HORMAD1/HORMA;DM=HORMAD1/HORMA;DM=HORMAD1/HORMA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,T:20:9:0:0:16,4:531,111:0.00,8.67:0.00,0.21:0.00,8.46:0.00,0.71:0.00,0.82:0.00,0.95:60,60:16.6,36.5:0,0:0,0:111,127:40,23:26,13:-,NM_032132.4(HORMAD1) c.243-36T>A:-,0.21:-,0.219829 1 150687155 . C . . NT END=150689613;NT GT ./. 1 150689430 rs75097587 C CA 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.003;Gene=HORMAD1/NM_001199829.1/0;CC=c.178+183_178+184insT;VC=Intron;Gene=HORMAD1/NM_032132.4/1;CC=c.178+183_178+184insT;VC=Intron;DM=HORMAD1/HORMA;DM=HORMAD1/HORMA;DM=HORMAD1/HORMA;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,CA:3:4:3:0:1,2:36,92:0.00,6.65:0.00,6.65:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,41.5:0,1:0,0:134,118:16,33:0,7:-,NM_032132.4(HORMAD1) c.178+183_178+184insT:-,NOT_FOUND:-,NOT_FOUND 1 150689759 . C . . NT END=150691948;NT GT ./. 1 150691990 . G . . NT END=150705521;NT GT ./. 1 150698923 . TACAC T 9 idl,rn VT=DEL;SST=Single;DP=7;NP=1;PC=0.164;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:TACAC,T:4:6:0:6:1,3:13,177:0.00,8.69:0.00,6.38:0.00,2.31:0.00,0.69:0.00,0.95:0.00,0.62:60,70:153.0,86.0:0,3:0,0:128,52:23,96:0,22:-,NM_032132.4(HORMAD1) c.-118-u5563_-118-u5560delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 150705622 . C . . NT END=150720252;NT GT ./. 1 150705755 rs1415148 G A 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5911,A/0.4089;PC=0.131;Gene=CTSS/NM_001199739.1/0;CC=c.747-134C>T;VC=Intron;Gene=CTSS/NM_004079.4/1;CC=c.897-134C>T;VC=Intron;DM=CTSS/Peptidase_C1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,G,T:12:0:0:0:9,2,1:239,67,14:25.77,0.00,0.77:0.00,0.00,0.00:25.77,0.00,0.77:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.4,0.0,79.0:0,0,0:0,0,0:83,101,3:68,49,147:30,45,0:NM_004079.4(CTSS) c.897-134C>T,-:0.38,-:NOT_FOUND,- 1 150720356 . C . . NT END=150722481;NT GT ./. 1 150722648 . C . . NT END=150724256;NT GT ./. 1 150723999 rs7531695 T C 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.001198,C/0.9988;NP=320;PC=0.006;Gene=CTSS/NM_001199739.1/0;CC=c.477+258A>G;VC=Intron;Gene=CTSS/NM_004079.4/1;CC=c.627+258A>G;VC=Intron;DM=CTSS/Peptidase_C1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:8:0:0:9:303:34.59:30.62:3.98:1.00:1.00:1.00:60:41.9:0:0:26:123:15:NM_004079.4(CTSS) c.627+258A>G,NM_004079.4(CTSS) c.627+258A>G:1,1:NOT_FOUND,NOT_FOUND 1 150724485 . C . . NT END=150727476;NT GT ./. 1 150727329 rs12068264 C T 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.618,T/0.382;Gene=CTSS/NM_001199739.1/0;CC=c.250-2845G>A;VC=Intron;Gene=CTSS/NM_004079.4/1;CC=c.399+148G>A;VC=Intron;DM=CTSS/Peptidase_C1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:7,11:236,349:0.00,34.92:0.00,34.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.3,31.7:0,0:0,0:41,42:110,109:22,34:-,NM_004079.4(CTSS) c.399+148G>A:-,0.35:-,NOT_FOUND 1 150727539 rs2230061 G A 123 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.6176,A/0.3824,C/.;PC=0.004;Gene=CTSS/NM_001199739.1/0;CC=c.249+2795C>T;VC=Intron;Gene=CTSS/NM_004079.4/1;CC=c.337C>T;ProtCh=p.R113W;VC=Missense;DM=CTSS/GVQW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:53:0:0:40,40:1279,1279:122.88,0.00:57.95,0.00:64.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,14.3:0,0:0,0:73,62:77,88:38,30:NM_004079.4(CTSS) c.337C>T (p.Arg113Trp),-:0.35,-:0.329156,- 1 150727627 . C . . NT END=150730333;NT GT ./. 1 150730184 rs11204722 C A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6112,A/0.3888;PC=0.002;Gene=CTSS/NM_001199739.1/0;CC=c.249+150G>T;VC=Intron;Gene=CTSS/NM_004079.4/1;CC=c.249+150G>T;VC=Intron;DM=CTSS/GVQW;DM=CTSS/Peptidase_C1;DM=CTSS/Inhibitor_I29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:15:15:0:0:8,7:233,235:22.59,0.00:22.59,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.6,0.0:0,0:0,0:43,57:106,93:29,38:NM_004079.4(CTSS) c.249+150G>T,-:0.36,-:NOT_FOUND,- 1 150730279 rs2275235 A G 73 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.6066,G/0.3934;PC=0.047;Gene=CTSS/NM_001199739.1/0;CC=c.249+55T>C;VC=Intron;Gene=CTSS/NM_004079.4/1;CC=c.249+55T>C;VC=Intron;DM=CTSS/GVQW;DM=CTSS/Peptidase_C1;DM=CTSS/Inhibitor_I29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:38:0:0:21,24:687,749:0.00,72.82:0.00,46.82:0.00,26.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,38.2:0,0:0,0:52,23:97,127:27,16:-,NM_004079.4(CTSS) c.249+55T>C:-,0.36:-,NOT_FOUND 1 150730457 . C . . NT END=150737113;NT GT ./. 1 150730529 rs371205604 A AT 8 idl,rn VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=2;PC=0.023;Gene=CTSS/NM_001199739.1/0;CC=c.127-74_127-73insA;VC=Intron;Gene=CTSS/NM_004079.4/1;CC=c.127-74_127-73insA;VC=Intron;DM=CTSS/Peptidase_C1;DM=CTSS/Inhibitor_I29;DM=CTSS/Peptidase_C1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,AT,D:45:24:5:5:38,4,3:1143,152,165:0.00,8.36,6.86:0.00,1.87,3.58:0.00,6.50,3.28:0.00,0.55,0.00:0.00,0.76,0.00:0.00,0.87,0.00:60,60,60:10.9,13.2,26.3:0,1,2:0,0,0:115,59,81:27,92,69:16,24,5:-,NM_004079.4(CTSS) c.127-74_127-73insA:-,NOT_FOUND:-,NOT_FOUND 1 150737240 . T . . NT END=150769274;NT GT ./. 1 150753487 rs12404949 G A 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6066,A/0.3934 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:3:0:0:2,3:69,105:6.39,0.00:5.21,0.00:1.18,0.00:0.91,0.00:0.80,0.00:0.87,0.00:40,53:40.0,11.7:0,0:0,0:80,99:70,51:6,11:chr1 g.150753486G>A (intergenic),-:0.37,-:NOT_FOUND,- 1 150769375 . C . . NT END=150771643;NT GT ./. 1 150771703 rs10788796 T C 179 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.03674,C/0.9633;Gene=CTSK/NM_000396.3/1;CC=c.831A>G;ProtCh=p.A277=;VC=Silent;DM=CTSK/Peptidase_C1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:C:51:32:0:0:51:1550:179.09:88.24:90.85:1.00:1.00:1.00:60:34.3:0:0:69:77:27:NM_000396.3(CTSK) c.=,NM_000396.3(CTSK) c.=:0.98,0.98:0.977856,0.977856 1 150771750 . C . . NT END=150772019;NT GT ./. 1 150772186 . C . . NT END=150776496;NT GT ./. 1 150776716 . C . . NT END=150778336;NT GT ./. 1 150778493 . C . . NT END=150778577;NT GT ./. 1 150778701 . C . . NT END=150779161;NT GT ./. 1 150779282 . C . . NT END=150784496;NT GT ./. 1 150779401 rs12746973 G A 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.9445,A/0.05551;PC=0.011;Gene=CTSK/NM_000396.3/1;CC=c.-1-119C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:7:0:0:16,17:508,544:48.51,0.00:13.82,0.00:34.70,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:38.2,17.8:0,0:0,0:101,95:49,55:30,20:NM_000396.3(CTSK) c.-1-119C>T,-:0.07,-:NOT_FOUND,- 1 150783934 rs71580328 G GCACA 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.596,GCA/.,GCACA/0.404,GCACACA/.,GCACACACA/.;NP=6;PC=0.001;Gene=ARNT/NM_001197325.1/0;CC=c.*562_*563insTGTG;VC=3UTR;Gene=ARNT/NM_001286035.1/0;CC=c.*562_*563insTGTG;VC=3UTR;Gene=ARNT/NM_001286036.1/0;CC=c.*562_*563insTGTG;VC=3UTR;Gene=ARNT/NM_001668.3/1;CC=c.*562_*563insTGTG;VC=3UTR;Gene=ARNT/NM_178427.2/0;CC=c.*562_*563insTGTG;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GCACA:4:3:4:0:4:124:14.31:8.64:5.67:1.00:1.00:1.00:70:26.5:0:0:41:77:3:NM_001668.3(ARNT) c.*543TG[12],NM_001668.3(ARNT) c.*543TG[12]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 150784587 . C . . NT END=150785647;NT GT ./. 1 150785815 . C . . NT END=150786552;NT GT ./. 1 150786716 . C . . NT END=150788734;NT GT ./. 1 150788883 . C . . NT END=150789263;NT GT ./. 1 150789367 . C . . NT END=150789557;NT GT ./. 1 150789679 . C . . NT END=150789827;NT GT ./. 1 150789925 . C . . NT END=150790395;NT GT ./. 1 150789961 rs3894771 A T 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.486,T/0.514;Gene=ARNT/NM_001197325.1/0;CC=c.1461-52T>A;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.1464-52T>A;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.1506-52T>A;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.1506-52T>A;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.1461-52T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:18:0:0:22,24:674,774:0.00,75.06:0.00,28.60:0.00,46.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.1,42.9:0,0:0,0:118,106:27,44:20,19:-,NM_001668.3(ARNT) c.1506-52T>A:-,0.5:-,0.530399 1 150790289 rs397862521 C CA 25 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5837,CA/0.4163,CAA/.;DB;DBA=NA;PAF=C/0.5837,CA/0.4163;NP=3;PC=0.081;Gene=ARNT/NM_001197325.1/0;CC=c.1460+106_1460+107insT;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.1463+106_1463+107insT;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.1505+106_1505+107insT;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.1505+106_1505+107insT;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.1460+106_1460+107insT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,C,CA:12:14:11:0:1,3,8:22,104,342:1.42,0.00,25.24:1.45,0.00,25.57:-0.03,0.00,-0.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.69:60,60,60:158.0,82.3,34.8:0,0,3:0,0,0:61,12,32:90,137,117:0,0,10:-,NM_001668.3(ARNT) c.1505+106_1505+107insT:-,NOT_FOUND:-,NOT_FOUND 1 150790507 . C . . NT END=150795669;NT GT ./. 1 150795822 . C . . NT END=150799018;NT GT ./. 1 150796028 rs397860863 CT C 8 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CT/0.512,C/0.488;DB;DBA=NA;PAF=CT/0.512,C/0.488;NP=13;PC=0.223;Gene=ARNT/NM_001197325.1/0;CC=c.1198-208delA;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.1201-208delA;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.1243-208delA;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.1243-208delA;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.1198-208delA;VC=Intron;DM=ARNT/PAS_11;DM=ARNT/PAS_3;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:CT,I,C:12:0:1:3:8,1,3:199,31,94:0.00,2.20,8.04:0.00,0.00,0.00:0.00,2.20,8.04:0.00,0.00,0.59:0.00,0.00,0.00:0.00,0.00,0.59:60,60,60:30.4,117.0,35.0:0,0,0:0,0,0:141,128,126:9,23,25:2,0,2:-,NM_001668.3(ARNT) c.1243-208delA:-,NOT_FOUND:-,NOT_FOUND 1 150799094 . C . . NT END=150801568;NT GT ./. 1 150801466 rs3738483 T C 111 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.1841,C/0.8159;PC=0.870;Gene=ARNT/NM_001197325.1/0;CC=c.1122+103A>G;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.1125+103A>G;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.1167+103A>G;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.1167+103A>G;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.1122+103A>G;VC=Intron;DM=ARNT/PAS_11;DM=ARNT/PAS_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:29:0:0:30:963:110.57:100.67:9.89:1.00:1.00:1.00:60:35.9:0:0:57:93:42:NM_001668.3(ARNT) c.1167+103A>G,NM_001668.3(ARNT) c.1167+103A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 150801704 . C . . NT END=150802379;NT GT ./. 1 150802457 . C . . NT END=150804293;NT GT ./. 1 150804380 . C . . NT END=150804809;NT GT ./. 1 150804401 rs397767768 GA G 34 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;Gene=ARNT/NM_001197325.1/0;CC=c.825-23delT;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.843-23delT;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.870-23delT;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.870-23delT;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.825-23delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:35:19:7:16:2,15,6,12:59,395,220,478:3.93,0.00,15.57,33.64:-0.07,0.00,8.70,11.45:3.99,0.00,6.87,22.19:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:135.0,27.7,40.5,25.9:1,0,1,4:0,0,0,0:72,127,96,105:78,16,47,40:7,18,8,17:-,NM_001668.3(ARNT) c.870-23delT:-,NOT_FOUND:-,NOT_FOUND 1 150804429 rs10305704 A C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.607,C/0.393;PC=0.009;Gene=ARNT/NM_001197325.1/0;CC=c.825-50T>G;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.843-50T>G;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.870-50T>G;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.870-50T>G;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.825-50T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:10:0:0:18,8:530,264:0.00,23.26:0.00,7.27:0.00,15.99:0.00,0.98:0.00,0.95:0.00,1.00:60,60:24.1,63.9:0,0:0,0:115,122:34,24:21,15:-,NM_001668.3(ARNT) c.870-50T>G:-,0.35:-,0.327207 1 150804876 . C . . NT END=150807013;NT GT ./. 1 150807117 . C . . NT END=150808755;NT GT ./. 1 150808889 rs2228099 C G 124 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.529,G/0.471;PC=0.998;Gene=ARNT/NM_001197325.1/0;CC=c.522G>C;ProtCh=p.V174=;VC=Silent;Gene=ARNT/NM_001286035.1/0;CC=c.540G>C;ProtCh=p.V180=;VC=Silent;Gene=ARNT/NM_001286036.1/0;CC=c.567G>C;ProtCh=p.V189=;VC=Silent;Gene=ARNT/NM_001668.3/1;CC=c.567G>C;ProtCh=p.V189=;VC=Silent;Gene=ARNT/NM_178427.2/0;CC=c.522G>C;ProtCh=p.V174=;VC=Silent;DM=ARNT/PAS;DM=ARNT/PAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:94:55:0:0:53,40,1:1762,1325,7:0.00,123.99,-0.20:0.00,55.00,-0.09:0.00,68.99,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.1,35.7,46.0:0,0,0:0,0,0:65,82,39:82,67,112:30,26,0:-,NM_001668.3(ARNT) c.567G>C (p.(=)):-,0.43:-,0.415424 1 150808970 . C . . NT END=150811916;NT GT ./. 1 150811712 rs1027699 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6052,C/0.3948;PC=0.651;Gene=ARNT/NM_001197325.1/0;CC=c.441+205A>G;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.459+205A>G;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.486+205A>G;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.486+205A>G;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.441+205A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,T:13:13:0:0:4,9:130,262:11.43,0.00:11.43,0.00:0.00,0.00:0.79,0.00:0.79,0.00:0.00,0.00:60,60:56.2,5.1:0,0:0,0:61,59:88,92:22,30:NM_001668.3(ARNT) c.486+205A>G,-:0.36,-:NOT_FOUND,- 1 150811794 rs2256355 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.528,C/0.472;Gene=ARNT/NM_001197325.1/0;CC=c.441+123A>G;VC=Intron;Gene=ARNT/NM_001286035.1/0;CC=c.459+123A>G;VC=Intron;Gene=ARNT/NM_001286036.1/0;CC=c.486+123A>G;VC=Intron;Gene=ARNT/NM_001668.3/1;CC=c.486+123A>G;VC=Intron;Gene=ARNT/NM_178427.2/0;CC=c.441+123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:8,13:247,427:22.44,0.00:22.44,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:43.8,1.9:0,0:0,0:32,21:117,129:11,12:NM_001668.3(ARNT) c.486+123A>G,-:0.43,-:NOT_FOUND,- 1 150812131 . C . . NT END=150814718;NT GT ./. 1 150814789 . C . . NT END=150814899;NT GT ./. 1 150814945 . C . . NT END=150818738;NT GT ./. 1 150818784 . C . . NT END=150825237;NT GT ./. 1 150825317 . C . . NT END=150830824;NT GT ./. 1 150830937 . C . . NT END=150849018;NT GT ./. 1 150849044 . G . . NT END=150900190;NT GT ./. 1 150849071 rs34415707 AC A 94 idl,rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=87;PC=0.926;Gene=ARNT/NM_001197325.1/0;CC=c.-29delG;VC=5UTR;Gene=ARNT/NM_001286035.1/0;CC=c.-112delG;VC=5UTR;Gene=ARNT/NM_001286036.1/0;CC=c.-29delG;VC=5UTR;Gene=ARNT/NM_001668.3/1;CC=c.-29delG;VC=5UTR;Gene=ARNT/NM_178427.2/0;CC=c.-29delG;VC=5UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,C,A:47:20:0:40:14,1,32:359,33,1063:0.00,1.94,93.50:0.00,-0.03,23.48:0.00,1.97,70.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:12.6,44.0,22.4:0,1,5:0,0,0:139,111,97:8,40,47:8,0,22:-,NM_001668.3(ARNT) c.-39G[10]:-,NOT_FOUND:-,NOT_FOUND 1 150858949 rs35683328 T TACAC 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=21;NP=8;PC=0.002;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:T,TACAC:6:4:4:0:3,3:87,126:0.00,9.10:0.00,4.63:0.00,4.47:0.00,0.69:0.00,0.89:0.00,0.89:60,60:43.7,2.3:0,1:0,0:142,45:9,105:8,12:-,XR_158744.1(LOC100996521) n.-780_-779insACAC:-,NOT_FOUND:-,NOT_FOUND 1 150900451 . G . . NT END=150902442;NT GT ./. 1 150902595 . G . . NT END=150912415;NT GT ./. 1 150912451 . G . . NT END=150913804;NT GT ./. 1 150913905 . G . . NT END=150915038;NT GT ./. 1 150914922 rs397861618 C CA 11 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5681,CA/0.4319;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5681,CA/0.4319;NP=44;PC=0.006;Gene=SETDB1/NM_001243491.1/0;CC=c.548-101_548-100insA;VC=Intron;Gene=SETDB1/NM_001145415.1/1;CC=c.548-101_548-100insA;VC=Intron;Gene=SETDB1/NM_012432.3/0;CC=c.548-101_548-100insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,CA,D:14:15:5:1:9,4,1:280,157,33:0.00,11.30,2.33:0.00,11.44,2.36:0.00,-0.13,-0.03:0.00,0.76,0.00:0.00,0.76,0.00:0.00,0.55,0.00:60,60,60:19.4,20.8,0.0:0,1,0:0,0,0:105,60,20:45,81,128:33,17,0:-,NM_001145415.1(SETDB1) c.548-117_548-116insA:-,NOT_FOUND:-,NOT_FOUND 1 150915165 . G . . NT END=150915327;NT GT ./. 1 150915530 . G . . NT END=150916395;NT GT ./. 1 150916470 . G . . NT END=150917393;NT GT ./. 1 150917797 . t . . NT END=150919361;NT GT ./. 1 150919489 . G . . NT END=150921597;NT GT ./. 1 150921755 . G . . NT END=150921842;NT GT ./. 1 150922002 . G . . NT END=150922933;NT GT ./. 1 150922702 rs397863567 CT C 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CT/0.04153,C/0.9585;DB;DBA=NA;PAF=CT/0.04153,C/0.9585;NP=336;PC=0.001;Gene=SETDB1/NM_001145415.1/1;CC=c.1581-230delT;VC=Intron;Gene=SETDB1/NM_012432.3/0;CC=c.1581-230delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:4:4:119:13.81:10.43:3.38:1.00:1.00:1.00:60:12.0:0:0:75:75:23:NM_001145415.1(SETDB1) c.1581-231delT,NM_001145415.1(SETDB1) c.1581-231delT:0.97,0.97:NOT_FOUND,NOT_FOUND 1 150923567 . G . . NT END=150923840;NT GT ./. 1 150923774 rs2124952 T A 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.5944,A/0.4056;Gene=SETDB1/NM_001145415.1/1;CC=c.2214-67T>A;VC=Intron;Gene=SETDB1/NM_012432.3/0;CC=c.2214-67T>A;VC=Intron;DM=SETDB1/Pre-SET;DM=SETDB1/Pre-SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:35:13:0:0:18,17:561,534:54.11,0.00:20.25,0.00:33.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,13.1:0,0:0,0:71,107:80,35:42,30:NM_001145415.1(SETDB1) c.2214-67T>A,-:0.39,-:NOT_FOUND,- 1 150923958 . G . . NT END=150931653;NT GT ./. 1 150931462 rs2272214 G A 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5946,A/0.4054;PC=0.006;Gene=SETDB1/NM_001145415.1/1;CC=c.2331-192G>A;VC=Intron;Gene=SETDB1/NM_012432.3/0;CC=c.2331-192G>A;VC=Intron;DM=SETDB1/Pre-SET;DM=SETDB1/Pre-SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:8:8:0:0:4,4:124,87:11.93,0.00:11.93,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:69.2,5.8:0,0:0,0:48,36:102,114:13,19:NM_001145415.1(SETDB1) c.2331-192G>A,-:0.39,-:NOT_FOUND,- 1 150931824 . G . . NT END=150933038;NT GT ./. 1 150932953 . GAA G 10 idl,rn VT=DEL;SST=Single;DP=26;PC=0.006;Gene=SETDB1/NM_001145415.1/1;CC=c.2501-69_2501-68delAA;VC=Intron;Gene=SETDB1/NM_012432.3/0;CC=c.2501-69_2501-68delAA;VC=Intron;DM=SETDB1/SET;DM=SETDB1/SET;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:GAA,I,G:21:26:1:9:16,1,4:466,33,286:0.00,2.09,10.30:0.00,2.10,10.34:0.00,-0.01,-0.04:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.44:60,60,60:41.3,0.0,79.0:1,0,5:0,0,0:38,29,22:108,120,128:31,0,17:-,NM_001145415.1(SETDB1) c.2501-85_2501-84delAA:-,NOT_FOUND:-,NOT_FOUND 1 150933668 . G . . NT END=150934605;NT GT ./. 1 150933883 rs397860414 CT C 27 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CT/0.5942,C/0.4058;DB;DBA=NA;PAF=CT/0.5942,C/0.4058;NP=43;Gene=SETDB1/NM_001145415.1/1;CC=c.3129+219delT;VC=Intron;Gene=SETDB1/NM_012432.3/0;CC=c.3129+219delT;VC=Intron;DM=SETDB1/SET;DM=SETDB1/SET;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:CT,C:10:0:0:8:2,8:64,250:0.00,26.64:0.00,0.00:0.00,26.64:0.00,1.00:0.00,0.00:0.00,1.00:60,70:16.0,0.0:0,0:0,0:116,106:34,45:28,24:-,NM_001145415.1(SETDB1) c.3129+217delT:-,0.39:-,NOT_FOUND 1 150934635 . G . . NT END=150935062;NT GT ./. 1 150935196 . G . . NT END=150935449;NT GT ./. 1 150935616 . G . . NT END=150936005;NT GT ./. 1 150935872 rs2280627 A G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4998,G/0.5002;Gene=SETDB1/NM_001145415.1/1;CC=c.3458-134A>G;VC=Intron;Gene=SETDB1/NM_012432.3/0;CC=c.3458-134A>G;VC=Intron;DM=SETDB1/SET;DM=SETDB1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:9:0:0:9,8:275,240:0.00,22.70:0.00,9.81:0.00,12.89:0.00,0.99:0.00,0.99:0.00,0.99:60,60:10.3,56.5:0,0:0,0:99,94:51,57:33,39:-,NM_001145415.1(SETDB1) c.3458-134A>G:-,0.48:-,NOT_FOUND 1 150936218 . G . . NT END=150936470;NT GT ./. 1 150936560 . G . . NT END=150936722;NT GT ./. 1 150936841 . A . . NT END=150938623;NT GT ./. 1 150936903 rs1045628 T C 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.991,C/0.008986;PC=0.001;Gene=SETDB1/NM_001145415.1/1;CC=c.*63T>C;VC=3UTR;Gene=SETDB1/NM_012432.3/0;CC=c.*63T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:5:0:0:15,16:457,517:43.47,0.00:3.09,0.00:40.39,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:49.9,19.4:0,0:0,0:113,105:38,45:31,25:NM_001145415.1(SETDB1) c.*63T>C,-:0.01,-:NOT_FOUND,- 1 150938571 rs8444 G A 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.5958,A/0.4042;PC=0.439;Gene=CERS2/NM_022075.4/1;CC=c.*53C>T;VC=3UTR;Gene=CERS2/NM_181746.3/0;CC=c.*53C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:40:0:0:20,22:660,634:62.95,0.00:54.88,0.00:8.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.6,46.2:0,0:0,0:36,24:114,121:20,17:NM_181746.3(CERS2) c.*53C>T,-:0.39,-:NOT_FOUND,- 1 150938616 rs267739 G A 214 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.02077,A/0.9792;PC=0.018;Gene=CERS2/NM_022075.4/1;CC=c.*8C>T;VC=3UTR;Gene=CERS2/NM_181746.3/0;CC=c.*8C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:A,C:62:55:0:0:61,1:1853,7:213.68,0.07:145.02,0.07:68.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.2,41.0:0,0:0,0:52,138:87,13:28,0:NM_181746.3(CERS2) c.=,NM_181746.3(CERS2) c.=:0.98,0.98:0.979702,0.979702 1 150938765 . C . . NT END=150938951;NT GT ./. 1 150939106 . C . . NT END=150939231;NT GT ./. 1 150939339 . C . . NT END=150939549;NT GT ./. 1 150939679 . C . . NT END=150939867;NT GT ./. 1 150939744 rs11204750 C A 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.6088,A/0.3912;Gene=CERS2/NM_022075.4/1;CC=c.613-66G>T;VC=Intron;Gene=CERS2/NM_181746.3/0;CC=c.613-66G>T;VC=Intron;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:28:12:0:0:12,16:342,460:31.60,0.00:3.55,0.00:28.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,17.9:0,0:0,0:115,90:26,61:21,33:NM_181746.3(CERS2) c.613-66G>T,-:0.38,-:NOT_FOUND,- 1 150939961 . C . . NT END=150940139;NT GT ./. 1 150940191 . C . . NT END=150940295;NT GT ./. 1 150940354 . C . . NT END=150940558;NT GT ./. 1 150940357 rs6656535 G T 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.6088,T/0.3912;PC=0.976;Gene=CERS2/NM_022075.4/1;CC=c.411-4C>A;VC=Intron;Gene=CERS2/NM_181746.3/0;CC=c.411-4C>A;VC=Intron;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:43:30:0:0:27,16:835,479:0.00,43.20:0.00,21.81:0.00,21.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.9,66.8:0,0:0,0:76,48:73,90:34,30:-,NM_181746.3(CERS2) c.411-4C>A:-,0.32:-,0.316392 1 150940358 rs6681742 C T 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.6088,T/0.3912;PC=1.000;Gene=CERS2/NM_022075.4/1;CC=c.411-5G>A;VC=Intron;Gene=CERS2/NM_181746.3/0;CC=c.411-5G>A;VC=Intron;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8;DM=CERS2/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:31:0:0:28,16:904,508:0.00,45.91:0.00,23.94:0.00,21.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,66.8:0,0:0,0:92,49:59,89:37,30:-,NM_181746.3(CERS2) c.411-5G>A:-,0.31:-,0.316392 1 150940678 . C . . NT END=150940870;NT GT ./. 1 150940989 . C . . NT END=150941393;NT GT ./. 1 150941381 rs752376 C T 82 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.5026,T/0.4974;Gene=CERS2/NM_022075.4/1;CC=c.173+13G>A;VC=Intron;Gene=CERS2/NM_181746.3/0;CC=c.173+13G>A;VC=Intron;DM=CERS2/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:47:0:0:29,27:947,861:0.00,82.14:0.00,53.74:0.00,28.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,37.7:0,0:0,0:52,43:99,105:27,20:-,NM_181746.3(CERS2) c.173+13G>A:-,0.48:-,0.432031 1 150941567 . C . . NT END=150955581;NT GT ./. 1 150955657 . G . . NT END=150955813;NT GT ./. 1 150955911 . G . . NT END=150956450;NT GT ./. 1 150956546 . G . . NT END=150956756;NT GT ./. 1 150956623 rs41310861 G A 69 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=ANXA9/NM_003568.2/1;CC=c.267+78G>A;VC=Intron;DM=ANXA9/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:21:0:0:23,25:723,814:68.84,0.00:31.99,0.00:36.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.9,11.5:0,0:0,0:92,88:40,63:44,53:NM_003568.2(ANXA9) c.267+78G>A,-:0.01,-:NOT_FOUND,- 1 150956871 . G . . NT END=150957061;NT GT ./. 1 150957153 . G . . NT END=150958811;NT GT ./. 1 150958892 . G . . NT END=150959077;NT GT ./. 1 150958977 rs2305814 T C 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.4491,C/0.5509;Gene=ANXA9/NM_003568.2/1;CC=c.552+86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:16:0:0:19,20:581,654:55.44,0.00:15.69,0.00:39.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,7.8:0,0:0,0:64,84:84,65:42,34:NM_003568.2(ANXA9) c.552+86T>C,-:0.52,-:NOT_FOUND,- 1 150959138 . G . . NT END=150960347;NT GT ./. 1 150959856 rs71090114 TCA T 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=276;PC=0.001;Gene=ANXA9/NM_003568.2/1;CC=c.613-470_613-469delAC;VC=Intron;DM=ANXA9/Annexin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,TCA,T:5:5:0:2:1,2,2:12,72,68:0.79,0.00,6.51:0.89,0.00,3.26:-0.10,0.00,3.26:0.00,0.00,0.91:0.00,0.00,0.91:0.00,0.00,0.87:16,60,60:103.0,0.0,0.0:1,0,0:0,0,0:78,132,71:42,16,79:0,8,19:-,NM_003568.2(ANXA9) c.613-491_613-490delCA:-,NOT_FOUND:-,NOT_FOUND 1 150960203 rs373848570 CA C 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=8;PC=0.621;Gene=ANXA9/NM_003568.2/1;CC=c.613-128delA;VC=Intron;DM=ANXA9/Annexin;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:CA,C:6:7:0:4:3,3:104,129:0.00,9.20:0.00,9.20:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:4.3,33.7:0,1:0,0:72,7:79,141:13,5:-,NM_003568.2(ANXA9) c.613-144delA:-,NOT_FOUND:-,NOT_FOUND 1 150960350 rs7532008 A C 128 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5082,C/0.4918;Gene=ANXA9/NM_003568.2/1;CC=c.615A>C;ProtCh=p.A205=;VC=Silent;DM=ANXA9/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:70:65:0:0:29,41:930,1292:0.00,128.13:0.00,91.68:0.00,36.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,37.4:0,0:0,0:58,53:92,78:35,38:-,NM_003568.2(ANXA9) c.615A>C (p.(=)):-,0.45:-,0.353145 1 150960433 . G . . NT END=150960566;NT GT ./. 1 150960689 . G . . NT END=150960758;NT GT ./. 1 150960822 . G . . NT END=150967052;NT GT ./. 1 150967340 . t . . NT END=150967735;NT GT ./. 1 150967799 . G . . NT END=150969762;NT GT ./. 1 150969567 rs771202 A G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.05691,G/0.9431;Gene=FAM63A/NM_001163259.1/0;CC=c.*196T>C;VC=3UTR;Gene=FAM63A/NM_001163260.1/0;CC=c.*196T>C;VC=3UTR;Gene=FAM63A/NM_001040217.2/0;CC=c.*196T>C;VC=3UTR;Gene=FAM63A/NM_001163258.1/1;CC=c.*196T>C;VC=3UTR;Gene=FAM63A/NM_018379.4/0;CC=c.*196T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:200:23.28:23.28:0.00:1.00:1.00:0.00:60:45.3:0:0:27:124:19:NM_001163258.1(FAM63A) c.=,NM_001163258.1(FAM63A) c.=:0.95,0.95:NOT_FOUND,NOT_FOUND 1 150969844 . C . . NT END=150970099;NT GT ./. 1 150969992 rs2925740 T C 243 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.1096,C/0.8904;PC=0.002;Gene=FAM63A/NM_001163259.1/0;CC=c.1044+108A>G;VC=Intron;Gene=FAM63A/NM_001163260.1/0;CC=c.903+108A>G;VC=Intron;Gene=FAM63A/NM_001040217.2/0;CC=c.903+108A>G;VC=Intron;Gene=FAM63A/NM_001163258.1/1;CC=c.1473+108A>G;VC=Intron;Gene=FAM63A/NM_018379.4/0;CC=c.1329+108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:A,C:72:54:0:0:2,70:20,2109:0.48,243.24:0.48,173.55:0.00,69.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,49.5:0,0:0,0:91,38:60,112:11,28:NM_001163258.1(FAM63A) c.1473+108A>G,NM_001163258.1(FAM63A) c.1473+108A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 150970082 rs41299641 G A 209 nt VT=SNV;PN=C;NN=C;SST=Single;DP=164;DB;DBA=NA;PAF=G/0.9976,A/0.002396;NP=22;Gene=FAM63A/NM_001163259.1/0;CC=c.1044+18C>T;VC=Intron;Gene=FAM63A/NM_001163260.1/0;CC=c.903+18C>T;VC=Intron;Gene=FAM63A/NM_001040217.2/0;CC=c.903+18C>T;VC=Intron;Gene=FAM63A/NM_001163258.1/1;CC=c.1473+18C>T;VC=Intron;Gene=FAM63A/NM_018379.4/0;CC=c.1329+18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:164:133:0:0:71,1,91,1:2233,9,2835,10:209.05,-0.19,0.00,-0.17:147.87,-0.14,0.00,-0.14:61.18,-0.05,0.00,-0.03:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:45.5,132.0,12.6,58.0:0,0,0,0:0,0,0,0:60,104,41,90:80,47,101,59:33,0,26,0:NM_001163258.1(FAM63A) c.1473+18C>T,-:0.01,-:0.003922,- 1 150970256 . C . . NT END=150970557;NT GT ./. 1 150970577 rs2925741 G T 459 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.05671,T/0.9433;PC=0.018;Gene=FAM63A/NM_001163259.1/0;CC=c.869C>A;ProtCh=p.T290K;VC=Missense;Gene=FAM63A/NM_001163260.1/0;CC=c.728C>A;ProtCh=p.T243K;VC=Missense;Gene=FAM63A/NM_001040217.2/0;CC=c.728C>A;ProtCh=p.T243K;VC=Missense;Gene=FAM63A/NM_001163258.1/1;CC=c.1298C>A;ProtCh=p.T433K;VC=Missense;Gene=FAM63A/NM_018379.4/0;CC=c.1154C>A;ProtCh=p.T385K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:118:102:0:0:118:4029:459.14:312.68:146.45:1.00:1.00:1.00:60:39.1:0:0:67:77:27:NM_001163258.1(FAM63A) c.=,NM_001163258.1(FAM63A) c.=:0.95,0.95:0.942411,0.942411 1 150970750 . C . . NT END=150971844;NT GT ./. 1 150970836 rs1673160 T A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.6238,A/0.3762;Gene=FAM63A/NM_001163259.1/0;CC=c.697-87A>T;VC=Intron;Gene=FAM63A/NM_001163260.1/0;CC=c.556-87A>T;VC=Intron;Gene=FAM63A/NM_001040217.2/0;CC=c.556-87A>T;VC=Intron;Gene=FAM63A/NM_001163258.1/1;CC=c.1126-87A>T;VC=Intron;Gene=FAM63A/NM_018379.4/0;CC=c.982-87A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:3:0:0:9,16:296,480:26.80,0.00:-0.38,0.00:27.19,0.00:1.00,0.00:0.76,0.00:1.00,0.00:60,60:39.9,2.7:0,0:0,0:94,129:57,21:35,17:NM_001163258.1(FAM63A) c.1126-87A>T,-:0.41,-:NOT_FOUND,- 1 150971988 . C . . NT END=150972337;NT GT ./. 1 150972444 . C . . NT END=150972932;NT GT ./. 1 150972538 rs708909 G A 78 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.04333,A/0.9567;Gene=FAM63A/NM_001163259.1/0;CC=c.451-98C>T;VC=Intron;Gene=FAM63A/NM_001163260.1/0;CC=c.310-98C>T;VC=Intron;Gene=FAM63A/NM_001040217.2/0;CC=c.310-98C>T;VC=Intron;Gene=FAM63A/NM_001163258.1/1;CC=c.880-98C>T;VC=Intron;Gene=FAM63A/NM_018379.4/0;CC=c.736-98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:3:0:0:21:679:77.91:11.03:66.88:1.00:1.00:1.00:60:51.0:0:0:87:64:34:NM_001163258.1(FAM63A) c.880-98C>T,NM_001163258.1(FAM63A) c.880-98C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 150973092 . C . . NT END=150973725;NT GT ./. 1 150973514 rs771203 G A 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3233,A/0.6767;Gene=FAM63A/NM_001163259.1/0;CC=c.291+212C>T;VC=Intron;Gene=FAM63A/NM_001163260.1/0;CC=c.150+212C>T;VC=Intron;Gene=FAM63A/NM_001040217.2/0;CC=c.150+212C>T;VC=Intron;Gene=FAM63A/NM_001163258.1/1;CC=c.720+212C>T;VC=Intron;Gene=FAM63A/NM_018379.4/0;CC=c.576+212C>T;VC=Intron;DM=FAM63A/DUF544 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:16:0:0:16:493:56.89:56.89:0.00:1.00:1.00:0.00:60:39.2:0:0:32:117:23:NM_001163258.1(FAM63A) c.720+212C>T,NM_001163258.1(FAM63A) c.720+212C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 150973791 . C . . NT END=150974200;NT GT ./. 1 150974162 rs771204 G A 200 nt VT=SNV;PN=A;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.1775,A/0.8225;Gene=FAM63A/NM_001163259.1/0;CC=c.226+39C>T;VC=Intron;Gene=FAM63A/NM_001163260.1/0;CC=c.85+39C>T;VC=Intron;Gene=FAM63A/NM_001040217.2/0;CC=c.85+39C>T;VC=Intron;Gene=FAM63A/NM_001163258.1/1;CC=c.655+39C>T;VC=Intron;Gene=FAM63A/NM_018379.4/0;CC=c.511+39C>T;VC=Intron;DM=FAM63A/DUF544 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:A:57:47:0:0:57:1725:199.52:137.89:61.63:1.00:1.00:1.00:60:38.1:0:0:48:100:32:NM_001163258.1(FAM63A) c.655+39C>T,NM_001163258.1(FAM63A) c.655+39C>T:0.82,0.82:0.818161,0.818161 1 150974259 . C . . NT END=150974640;NT GT ./. 1 150975108 rs771205 T C 503 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.241,C/0.759;Gene=FAM63A/NM_001163259.1/0;CC=c.-68-232A>G;VC=Intron;Gene=FAM63A/NM_001163260.1/0;CC=c.-120-321A>G;VC=Intron;Gene=FAM63A/NM_001040217.2/0;CC=c.-132-309A>G;VC=Intron;Gene=FAM63A/NM_001163258.1/1;CC=c.130A>G;ProtCh=p.K44E;VC=Missense;Gene=FAM63A/NM_018379.4/0;CC=c.-15A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:144:77:0:0:144:4352:503.31:225.85:277.46:1.00:1.00:1.00:60:42.6:0:0:89:55:38:NM_001163258.1(FAM63A) c.130A>G (p.Lys44Glu),NM_001163258.1(FAM63A) c.130A>G (p.Lys44Glu):0.79,0.79:0.802014,0.802014 1 150975445 . C . . NT END=150978576;NT GT ./. 1 150978724 . C . . NT END=150978787;NT GT ./. 1 150979386 . A . . NT END=150980723;NT GT ./. 1 150980552 rs3002293 C T 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.04353,T/0.9565;Gene=FAM63A/NM_001163258.1/1;CC=c.-93+172G>A;VC=Intron;Gene=FAM63A/NM_018379.4/0;CC=c.-838+172G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:19:0:0:19:520:60.88:60.88:0.00:1.00:1.00:0.00:60:35.8:0:0:57:93:22:NM_001163258.1(FAM63A) c.-93+172G>A,NM_001163258.1(FAM63A) c.-93+172G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 150980751 . T . . NT END=150981108;NT GT ./. 1 150981148 . G . . NT END=150990287;NT GT ./. 1 150990381 . G . . NT END=150990942;NT GT ./. 1 150990466 rs71090118 C CAT 21 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5952,CAT/0.4048;DB;DBA=NA;PAF=C/0.5952,CAT/0.4048;NP=2006;Gene=PRUNE/NM_001303229.1/0;CC=c.-212+88_-212+89insAT;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.132+88_132+89insAT;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.-128+88_-128+89insAT;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.132+88_132+89insAT;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHH;DM=PRUNE/DHHA2;DM=PRUNE/DHHA2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAT:14:1:7:0:7,7:241,223:0.00,21.42:0.00,-0.15:0.00,21.58:0.00,0.99:0.00,0.67:0.00,0.99:60,60:4.0,18.0:0,0:0,0:109,79:41,72:38,48:-,NM_021222.1(PRUNE) c.132+86_132+87insAT:-,0.42:-,NOT_FOUND 1 150990825 rs3738480 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.221,G/0.779;Gene=PRUNE/NM_001303229.1/0;CC=c.-212+445A>G;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.133-118A>G;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.-127-118A>G;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.133-118A>G;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHH;DM=PRUNE/DHHA2;DM=PRUNE/DHHA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:183:21.16:21.16:0.00:1.00:1.00:0.00:60:31.5:0:0:24:127:15:NM_021222.1(PRUNE) c.133-118A>G,NM_021222.1(PRUNE) c.133-118A>G:0.77,0.77:0.730555,0.730555 1 150991146 . G . . NT END=150997086;NT GT ./. 1 150991221 rs11204758 A G 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8031,G/0.1969;PC=0.299;Gene=PRUNE/NM_001303229.1/0;CC=c.-212+841A>G;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.335+76A>G;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.76+76A>G;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.335+76A>G;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHH;DM=PRUNE/DHHA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:1:0:0:7,6:214,197:0.00,18.67:0.00,-0.13:0.00,18.81:0.00,0.97:0.00,0.64:0.00,0.97:60,60:33.9,67.7:0,0:0,0:72,80:79,69:27,10:-,NM_021222.1(PRUNE) c.335+76A>G:-,0.21:-,NOT_FOUND 1 150991285 rs6664220 A G 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1575,G/0.8425;Gene=PRUNE/NM_001303229.1/0;CC=c.-212+905A>G;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.335+140A>G;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.76+140A>G;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.335+140A>G;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHH;DM=PRUNE/DHHA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:335:38.72:0.00:38.72:1.00:0.00:1.00:60:69.7:0:0:78:73:56:NM_021222.1(PRUNE) c.335+140A>G,NM_021222.1(PRUNE) c.335+140A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 150991330 rs6664295 A C 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.221,C/0.779;Gene=PRUNE/NM_001303229.1/0;CC=c.-212+950A>C;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.335+185A>C;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.76+185A>C;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.335+185A>C;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHH;DM=PRUNE/DHHA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:193:22.16:0.00:22.16:1.00:0.00:1.00:60:79.3:0:0:105:44:17:NM_021222.1(PRUNE) c.335+185A>C,NM_021222.1(PRUNE) c.335+185A>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 150997272 . G . . NT END=150997990;NT GT ./. 1 150997842 rs3738479 T A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.633,A/0.367;Gene=PRUNE/NM_001303229.1/0;CC=c.-26-149T>A;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.521-149T>A;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.77-1867T>A;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.521-149T>A;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,T:12:12:0:0:7,5:196,155:19.39,0.00:19.39,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:44.6,13.8:0,0:0,0:41,58:110,93:33,29:NM_021222.1(PRUNE) c.521-149T>A,-:0.34,-:NOT_FOUND,- 1 150997940 rs3738478 T C 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4894,C/0.5106;Gene=PRUNE/NM_001303229.1/0;CC=c.-26-51T>C;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.521-51T>C;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.77-1769T>C;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.521-51T>C;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:37:0:0:19,23:623,687:58.74,0.00:45.89,0.00:12.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,18.0:0,0:0,0:70,24:80,126:13,12:NM_021222.1(PRUNE) c.521-51T>C,-:0.53,-:0.570967,- 1 150998150 . G . . NT END=150999708;NT GT ./. 1 150998221 rs587685427 AT A 17 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1035;PC=0.562;Gene=PRUNE/NM_001303229.1/0;CC=c.133+85delT;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.679+85delT;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.77-1475delT;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.679+85delT;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHHA2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:AT,A:15:4:0:6:9,6:276,189:0.00,17.38:0.00,1.25:0.00,16.14:0.00,0.96:0.00,0.87:0.00,1.00:60,60:11.1,11.5:0,0:0,0:137,119:14,32:7,6:-,NM_021222.1(PRUNE) c.679+73delT:-,NOT_FOUND:-,NOT_FOUND 1 150999737 rs11204762 A G 36 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7242,G/0.2758;PC=1.000;Gene=PRUNE/NM_001303229.1/0;CC=c.162A>G;ProtCh=p.K54=;VC=Silent;Gene=PRUNE/NM_001303242.1/0;CC=c.708A>G;ProtCh=p.K236=;VC=Silent;Gene=PRUNE/NM_001303243.1/0;CC=c.105A>G;ProtCh=p.K35=;VC=Silent;Gene=PRUNE/NM_021222.2/1;CC=c.708A>G;ProtCh=p.K236=;VC=Silent;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHHA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:18:0:0:13,12:440,374:0.00,35.58:0.00,15.66:0.00,19.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,39.2:0,0:0,0:63,65:83,79:22,42:-,NM_021222.1(PRUNE) c.708A>G (p.(=)):-,0.28:-,0.236737 1 150999804 . G . . NT END=151001261;NT GT ./. 1 150999863 rs55717234 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.519,G/0.481;Gene=PRUNE/NM_001303229.1/0;CC=c.228+60A>G;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.774+60A>G;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.171+60A>G;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.774+60A>G;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHHA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:6:0:0:8,6:266,193:0.00,18.01:0.00,3.86:0.00,14.15:0.00,0.96:0.00,0.95:0.00,1.00:60,60:28.0,41.8:0,0:0,0:107,98:23,52:13,22:-,NM_021222.1(PRUNE) c.774+60A>G:-,0.42:-,NOT_FOUND 1 151000261 rs587746960 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=25;PC=0.003;Gene=PRUNE/NM_001303229.1/0;CC=c.228+458C>T;VC=Intron;Gene=PRUNE/NM_001303242.1/0;CC=c.774+458C>T;VC=Intron;Gene=PRUNE/NM_001303243.1/0;CC=c.171+458C>T;VC=Intron;Gene=PRUNE/NM_021222.2/1;CC=c.774+458C>T;VC=Intron;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding;DM=PRUNE/DHHA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:4:3:0:0:2,2:65,70:0.00,6.75:0.00,3.53:0.00,3.22:0.00,0.51:0.00,0.89:0.00,0.51:60,60:27.5,40.5:0,1:0,0:122,63:24,49:0,10:-,NM_021222.1(PRUNE) c.774+458C>T:-,NOT_FOUND:-,NOT_FOUND 1 151001421 . G . . NT END=151006281;NT GT ./. 1 151006539 rs3738476 C A 119 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.4906,A/0.5094,G/.;PC=0.012;Gene=PRUNE/NM_001303229.1/0;CC=c.645C>A;ProtCh=p.G215=;VC=Silent;Gene=PRUNE/NM_001303242.1/0;CC=c.1032C>A;ProtCh=p.G344=;VC=Silent;Gene=PRUNE/NM_001303243.1/0;CC=c.588C>A;ProtCh=p.G196=;VC=Silent;Gene=PRUNE/NM_021222.2/1;CC=c.1191C>A;ProtCh=p.G397=;VC=Silent;Gene=PRUNE/NR_130130.1/0;VC=NonCoding;Gene=PRUNE/NR_130131.1/0;VC=NonCoding;Gene=PRUNE/NR_130132.1/0;VC=NonCoding;Gene=PRUNE/NR_130135.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:107:81:0:0:43,64:1298,2169:118.94,0.00:55.42,0.00:63.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,3.6:0,0:0,0:63,50:82,96:26,20:NM_021222.1(PRUNE) c.=,-:0.86,-:0.854529,- 1 151006711 . C . . NT END=151009201;NT GT ./. 1 151009243 . G . . NT END=151009790;NT GT ./. 1 151010139 . G . . NT END=151010979;NT GT ./. 1 151010242 rs143226373 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9884,T/0.01158;PC=0.002;Gene=BNIPL/NM_001159642.1/0;CC=c.-110+104C>T;VC=Intron;Gene=BNIPL/NM_138278.3/1;CC=c.137+104C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:10:0:0:0:4,6:121,202:0.00,20.14:0.00,0.00:0.00,20.14:0.00,0.99:0.00,0.00:0.00,0.99:60,60:35.5,42.0:0,0:0,0:134,80:17,70:10,26:-,NM_138278.3(BNIPL) c.137+104C>T:-,0.01:-,NOT_FOUND 1 151011045 . G . . NT END=151011271;NT GT ./. 1 151011503 . G . . NT END=151015431;NT GT ./. 1 151015615 . G . . NT END=151015807;NT GT ./. 1 151015911 . G . . NT END=151016071;NT GT ./. 1 151016204 . G . . NT END=151017355;NT GT ./. 1 151017505 . c . . NT END=151018272;NT GT ./. 1 151018360 . G . . NT END=151018542;NT GT ./. 1 151018642 . G . . NT END=151019126;NT GT ./. 1 151019164 . C . . NT END=151020323;NT GT ./. 1 151021329 . G . . NT END=151022913;NT GT ./. 1 151022935 . T . . NT END=151026722;NT GT ./. 1 151026798 . C . . NT END=151027491;NT GT ./. 1 151027603 . C . . NT END=151028152;NT GT ./. 1 151028207 . G . . NT END=151039700;NT GT ./. 1 151028234 rs11204767 G T 159 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=3416;PC=0.014;Gene=CDC42SE1/NM_001038707.1/1;CC=c.-28C>A;VC=5UTR;Gene=CDC42SE1/NM_020239.3/0;CC=c.-28C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:T:42:21:0:0:42:1388:158.82:51.94:106.88:1.00:1.00:1.00:60:38.4:0:0:98:41:27:NM_001038707.1(CDC42SE1) c.-28C>A,NM_001038707.1(CDC42SE1) c.-28C>A:1,1:NOT_FOUND,NOT_FOUND 1 151039576 rs57235606 GA G 8 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=GA/0.7085,G/0.2915;NP=18;PC=0.012;Gene=MLLT11/NM_006818.3/1;CC=c.-6-103delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:GA,I,G:20:23:3:6:15,2,3:468,87,179:0.00,3.73,7.56:0.00,3.73,7.56:0.00,0.00,0.00:0.00,0.00,0.47:0.00,0.00,0.89:0.00,0.00,0.42:60,60,60:25.8,69.5,26.3:0,1,3:0,0,0:45,18,20:106,133,130:29,4,13:-,NM_006818.3(MLLT11) c.-6-118delA:-,NOT_FOUND:-,NOT_FOUND 1 151039974 . G . . NT END=151060665;NT GT ./. 1 151060774 . G . . NT END=151060945;NT GT ./. 1 151060994 . G . . NT END=151062881;NT GT ./. 1 151063050 . G . . NT END=151065667;NT GT ./. 1 151065863 . G . . NT END=151070327;NT GT ./. 1 151070252 rs587691008 CA C 22 idl,rn VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=924;PC=0.014;Gene=GABPB2/NM_144618.2/1;CC=c.472-62delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:A,CA,I,C:42:43:7:10:1,29,4,8:29,869,216,325:1.44,0.00,9.31,21.82:-0.21,0.00,9.54,17.79:1.65,0.00,-0.23,4.03:0.00,0.00,0.00,0.96:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.85:60,60,60,60:51.0,17.2,62.2,6.8:0,0,3,2:0,0,0,0:20,79,39,48:131,72,109,102:0,43,14,26:-,NM_144618.2(GABPB2) c.472-75delA:-,NOT_FOUND:-,NOT_FOUND 1 151070479 . G . . NT END=151076037;NT GT ./. 1 151076152 . G . . NT END=151079512;NT GT ./. 1 151079699 . G . . NT END=151089867;NT GT ./. 1 151089993 . G . . NT END=151090432;NT GT ./. 1 151090733 . T . . NT END=151104672;NT GT ./. 1 151105994 . C . . NT END=151106435;NT GT ./. 1 151106532 . C . . NT END=151106876;NT GT ./. 1 151106922 . C . . NT END=151107095;NT GT ./. 1 151107152 . C . . NT END=151107273;NT GT ./. 1 151107352 . C . . NT END=151107638;NT GT ./. 1 151107786 . C . . NT END=151108066;NT GT ./. 1 151108241 . C . . NT END=151108486;NT GT ./. 1 151108640 . C . . NT END=151108912;NT GT ./. 1 151109056 . C . . NT END=151109332;NT GT ./. 1 151109132 rs115782736 C T 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.9982,T/0.001797;NP=22;Gene=SEMA6C/NM_001178061.1/1;CC=c.975-77G>A;VC=Intron;Gene=SEMA6C/NM_001178062.1/0;CC=c.855-77G>A;VC=Intron;Gene=SEMA6C/NM_030913.4/0;CC=c.975-77G>A;VC=Intron;DM=SEMA6C/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:24:0:0:24,18:766,608:0.00,56.93:0.00,23.13:0.00,33.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,41.2:0,0:0,0:107,105:41,45:21,20:-,NM_001178061.1(SEMA6C) c.975-77G>A:-,0.0041:-,NOT_FOUND 1 151109551 . C . . NT END=151110186;NT GT ./. 1 151110276 . C . . NT END=151110461;NT GT ./. 1 151110582 . C . . NT END=151110791;NT GT ./. 1 151110883 . C . . NT END=151111105;NT GT ./. 1 151111208 . C . . NT END=151111900;NT GT ./. 1 151111958 . C . . NT END=151112113;NT GT ./. 1 151112178 . C . . NT END=151112451;NT GT ./. 1 151112567 . C . . NT END=151114979;NT GT ./. 1 151115104 . C . . NT END=151131173;NT GT ./. 1 151131091 rs41305062 A G 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.6997,G/0.3003;PC=0.006;Gene=TNFAIP8L2/NM_024575.4/1;CC=c.-32-51A>G;VC=Intron;Gene=TNFAIP8L2-SCNM1/NM_001204848.1/1;CC=c.-55+1893A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:G,T:31:31:0:0:30,1:940,10:107.79,0.26:96.05,0.26:11.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.3,148.0:0,0:0,0:42,5:108,143:22,0:NM_001204848.1(TNFAIP8L2-SCNM1) c.-55+1893A>G,NM_001204848.1(TNFAIP8L2-SCNM1) c.-55+1893A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 1 151131729 . G . . NT END=151133357;NT GT ./. 1 151133497 . C . . NT END=151134211;NT GT ./. 1 151133972 rs74666457 C CA 8 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.006;Gene=TNFAIP8L2-SCNM1/NM_001204848.1/1;CC=c.-55+4789_-55+4790insA;VC=Intron;Gene=LYSMD1/NM_212551.4/1;CC=c.545+239_545+240insT;VC=Intron;Gene=LYSMD1/NM_001136543.1/0;CC=c.401+239_401+240insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CA,D:13:12:3:2:8,3,2:231,92,65:0.00,7.81,5.25:0.00,7.92,5.32:0.00,-0.11,-0.07:0.00,0.58,0.00:0.00,0.92,0.00:0.00,0.49,0.00:60,60,60:5.4,7.3,0.0:0,0,0:0,0,0:61,51,42:89,100,108:42,36,0:-,NM_212551.4(LYSMD1) c.545+239_545+240insT:-,NOT_FOUND:-,NOT_FOUND 1 151134577 . C . . NT END=151137554;NT GT ./. 1 151134579 rs79383717 T TA 128 idl,rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=856;PC=0.998;Gene=TNFAIP8L2-SCNM1/NM_001204848.1/1;CC=c.-54-4358dupA;VC=Intron;Gene=LYSMD1/NM_212551.4/1;CC=c.181-4dupT;VC=Intron;Gene=LYSMD1/NM_001136543.1/0;CC=c.37-4dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA,D:61:30:46:1:1,18,41,1:10,495,1393,34:0.03,0.00,128.08,1.94:-0.04,0.00,42.03,0.99:0.07,0.00,86.05,0.95:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:53.0,19.9,14.7,0.0:0,1,5,0:0,0,0,0:144,136,78,114:6,11,69,37:0,12,30,0:-,NM_212551.4(LYSMD1) c.181-4_181-3insT:-,NOT_FOUND:-,NOT_FOUND 1 151138259 . A . . NT END=151138628;NT GT ./. 1 151138729 . G . . NT END=151138826;NT GT ./. 1 151138848 . G . . NT END=151138946;NT GT ./. 1 151139018 . G . . NT END=151139409;NT GT ./. 1 151139073 . CT C 31 idl,rn VT=DEL;SST=Single;DP=82;NP=2;PC=0.111;Gene=TNFAIP8L2-SCNM1/NM_001204848.1/1;CC=c.17+70delT;VC=Intron;Gene=SCNM1/NM_001204856.1/1;CC=c.17+70delT;VC=Intron;Gene=SCNM1/NM_024041.3/0;CC=c.122+70delT;VC=Intron;Gene=SCNM1/NR_037937.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CT,T,I,C:82:37:10:14:57,1,10,14:1753,33,317,399:0.00,1.56,24.13,31.34:0.00,-0.12,5.47,9.75:0.00,1.68,18.66,21.59:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,70:15.8,45.0,17.7,12.1:1,1,0,0:0,0,0,0:117,122,95,99:24,29,51,49:20,0,30,24:-,NM_001204848.1(TNFAIP8L2-SCNM1) c.17+57delT:-,NOT_FOUND:-,NOT_FOUND 1 151139499 . G . . NT END=151139596;NT GT ./. 1 151139695 . G . . NT END=151139801;NT GT ./. 1 151139891 . G . . NT END=151140619;NT GT ./. 1 151140815 . G . . NT END=151141461;NT GT ./. 1 151140888 rs373666513 CT C 15 idl,rn VT=DEL;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=18;Gene=TNFAIP8L2-SCNM1/NM_001204848.1/1;CC=c.488+87delT;VC=Intron;Gene=SCNM1/NM_001204856.1/1;CC=c.488+87delT;VC=Intron;Gene=SCNM1/NM_024041.3/0;CC=c.593+87delT;VC=Intron;Gene=SCNM1/NR_037937.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,CT,I,C:66:11:6:10:1,52,6,7:8,1509,196,310:-0.23,0.00,14.06,15.39:-0.05,0.00,-0.35,-0.41:-0.18,0.00,14.42,15.80:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.61:0.00,0.00,0.00,0.99:60,60,60,60:72.0,22.1,0.0,10.1:0,0,0,3:0,0,0,0:90,125,93,83:60,26,57,68:0,22,25,30:-,NM_001204848.1(TNFAIP8L2-SCNM1) c.488+75delT:-,NOT_FOUND:-,NOT_FOUND 1 151141213 rs11577302 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9006,A/0.09944;Gene=TNFAIP8L2-SCNM1/NM_001204848.1/1;CC=c.489-249G>A;VC=Intron;Gene=SCNM1/NM_001204856.1/1;CC=c.489-249G>A;VC=Intron;Gene=SCNM1/NM_024041.3/0;CC=c.594-249G>A;VC=Intron;Gene=SCNM1/NR_037937.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G:12:11:0:0:8,4:225,96:23.05,0.00:19.45,0.00:3.60,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:31.2,7.5:0,0:0,0:75,46:73,81:39,12:NM_001204848.1(TNFAIP8L2-SCNM1) c.489-249G>A,-:0.11,-:NOT_FOUND,- 1 151141562 . T . . NT END=151142556;NT GT ./. 1 151141716 rs5777765 CT C 9 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.547;Gene=TNFAIP8L2-SCNM1/NM_001204848.1/1;CC=c.*177delT;VC=3UTR;Gene=SCNM1/NM_001204856.1/1;CC=c.*177delT;VC=3UTR;Gene=SCNM1/NM_024041.3/0;CC=c.*177delT;VC=3UTR;Gene=SCNM1/NR_037937.1/0;VC=NonCoding;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:CT,I,C:13:0:2:8:7,2,4:224,52,214:0.00,3.92,8.78:0.00,0.00,0.00:0.00,3.92,8.78:0.00,0.00,0.74:0.00,0.00,0.00:0.00,0.00,0.74:60,60,60:30.0,100.0,53.8:0,0,4:0,0,0:135,117,79:16,33,71:10,3,25:-,NM_001204848.1(TNFAIP8L2-SCNM1) c.*156T[21]:-,NOT_FOUND:-,NOT_FOUND 1 151142580 . C . . NT END=151142994;NT GT ./. 1 151143140 . C . . NT END=151143395;NT GT ./. 1 151143540 . C . . NT END=151143908;NT GT ./. 1 151144017 . C . . NT END=151144108;NT GT ./. 1 151144240 . C . . NT END=151144743;NT GT ./. 1 151144834 . C . . NT END=151145974;NT GT ./. 1 151144891 rs28730724 C T 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.975,T/0.02496;PC=0.001;Gene=TMOD4/NM_013353.2/1;CC=c.398-58G>A;VC=Intron;DM=TMOD4/Tropomodulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:7:0:0:12,9:369,295:0.00,27.57:0.00,2.81:0.00,24.76:0.00,1.00:0.00,0.69:0.00,1.00:60,60:2.3,32.8:0,0:0,0:111,111:40,40:17,17:-,NM_013353.2(TMOD4) c.398-58G>A:-,0.03:-,NOT_FOUND 1 151146092 . C . . NT END=151146866;NT GT ./. 1 151146186 rs7552226 C G 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.07528,G/0.9247;PC=0.381;Gene=TMOD4/NM_013353.2/1;CC=c.281-95G>C;VC=Intron;DM=TMOD4/Tropomodulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:1:0:0:20:594:68.86:3.58:65.29:1.00:1.00:1.00:60:48.5:0:0:97:53:36:NM_013353.2(TMOD4) c.281-95G>C,NM_013353.2(TMOD4) c.281-95G>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 151146276 rs7521416 T C 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.07628,C/0.9237;Gene=TMOD4/NM_013353.2/1;CC=c.281-185A>G;VC=Intron;DM=TMOD4/Tropomodulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:229:26.71:0.00:26.71:1.00:0.00:1.00:60:69.9:0:0:134:17:8:NM_013353.2(TMOD4) c.281-185A>G,NM_013353.2(TMOD4) c.281-185A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 151147024 . C . . NT END=151147228;NT GT ./. 1 151147352 . G . . NT END=151149119;NT GT ./. 1 151149541 . c . . NT END=151150476;NT GT ./. 1 151149601 rs6656261 A G 201 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.02256,G/0.9774;Gene=VPS72/NM_001271087.1/1;CC=c.708-61T>C;VC=Intron;Gene=VPS72/NM_001271088.1/0;CC=c.573-228T>C;VC=Intron;Gene=VPS72/NM_005997.2/0;CC=c.708-94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:11:0:0:53:1758:201.02:26.32:174.70:1.00:1.00:1.00:60:43.7:0:0:108:42:25:NM_001271087.1(VPS72) c.708-61T>C,NM_001271087.1(VPS72) c.708-61T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 151150318 rs371399234 C CA 8 rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=VPS72/NM_001271087.1/1;CC=c.707+158_707+159insT;VC=Intron;Gene=VPS72/NM_001271088.1/0;CC=c.572+293_572+294insT;VC=Intron;Gene=VPS72/NM_005997.2/0;CC=c.707+158_707+159insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:C,T,CA,D:23:23:3:2:17,1,3,2:558,9,100,62:0.00,-0.06,7.75,4.36:0.00,-0.06,7.75,4.36:0.00,0.00,0.00,0.00:0.00,0.00,0.47,0.00:0.00,0.00,0.47,0.00:0.00,0.00,0.00,0.00:60,60,60,60:6.7,144.0,0.0,0.0:0,0,0,0:0,0,0,0:80,39,31,27:70,110,119,122:39,0,18,14:-,NM_001271087.1(VPS72) c.707+158_707+159insT:-,NOT_FOUND:-,NOT_FOUND 1 151150622 . C . . NT END=151156792;NT GT ./. 1 151156970 . C . . NT END=151157981;NT GT ./. 1 151157066 . CT C 10 idl,rn VT=DEL;SST=Single;DP=45;Gene=VPS72/NM_001271087.1/1;CC=c.386-98delA;VC=Intron;Gene=VPS72/NM_001271088.1/0;CC=c.386-98delA;VC=Intron;Gene=VPS72/NM_005997.2/0;CC=c.386-98delA;VC=Intron;DM=VPS72/YL1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CT,I,C:44:9:3:5:37,3,4:1189,93,165:0.00,6.10,9.51:0.00,-0.15,2.58:0.00,6.25,6.94:0.00,0.00,0.57:0.00,0.00,0.51:0.00,0.00,0.93:60,60,60:15.8,14.3,19.8:0,0,1:0,0,0:126,38,117:18,112,34:12,25,9:-,NM_001271087.1(VPS72) c.386-98delA:-,NOT_FOUND:-,NOT_FOUND 1 151157765 rs4971011 T C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.219,C/0.781;Gene=VPS72/NM_001271087.1/1;CC=c.385+217A>G;VC=Intron;Gene=VPS72/NM_001271088.1/0;CC=c.385+217A>G;VC=Intron;Gene=VPS72/NM_005997.2/0;CC=c.385+217A>G;VC=Intron;DM=VPS72/YL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:206:23.46:23.46:0.00:1.00:1.00:0.00:60:52.8:0:0:44:105:36:NM_001271087.1(VPS72) c.385+217A>G,NM_001271087.1(VPS72) c.385+217A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 151158097 . C . . NT END=151158273;NT GT ./. 1 151158427 . C . . NT END=151162480;NT GT ./. 1 151162598 . A . . NT END=151171472;NT GT ./. 1 151171664 . G . . NT END=151188437;NT GT ./. 1 151171811 rs6683396 C G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3598,G/0.6402;PC=0.009;Gene=PIP5K1A/NM_001135636.1/0;CC=c.85+254C>G;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.85+254C>G;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.85+254C>G;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.85+254C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:17:0:0:0:10,7:287,215:0.00,19.84:0.00,0.00:0.00,19.84:0.00,0.98:0.00,0.00:0.00,0.98:60,60:9.1,49.0:0,0:0,0:88,116:63,35:15,7:-,NM_001135638.1(PIP5K1A) c.85+254C>G:-,0.65:-,NOT_FOUND 1 151188469 . T . . NT END=151196720;NT GT ./. 1 151196757 . T . . NT END=151196846;NT GT ./. 1 151196883 . G . . NT END=151199795;NT GT ./. 1 151199878 . T . . NT END=151204146;NT GT ./. 1 151204279 . T . . NT END=151204723;NT GT ./. 1 151204632 rs2298263 C G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9267,G/0.07328;Gene=PIP5K1A/NM_001135636.1/0;CC=c.333-92C>G;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.330-92C>G;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.369-92C>G;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.330-92C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,G:11:10:0:0:5,6:157,190:0.00,18.57:0.00,18.91:0.00,-0.34:0.00,0.98:0.00,1.00:0.00,0.70:60,60:14.8,31.7:0,0:0,0:25,94:126,56:21,12:-,NM_001135638.1(PIP5K1A) c.369-92C>G:-,0.09:-,NOT_FOUND 1 151204843 . T . . NT END=151205026;NT GT ./. 1 151205181 . T . . NT END=151206672;NT GT ./. 1 151205303 rs7544947 A G 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.3586,G/0.6414;Gene=PIP5K1A/NM_001135636.1/0;CC=c.603+124A>G;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.600+124A>G;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.639+124A>G;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.600+124A>G;VC=Intron;DM=PIP5K1A/PIP5K;DM=PIP5K1A/PIP5K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:0:0:0:12,12:360,405:0.00,39.00:0.00,0.00:0.00,39.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.0,53.3:0,0:0,0:120,105:30,45:23,13:-,NM_001135638.1(PIP5K1A) c.639+124A>G:-,0.65:-,NOT_FOUND 1 151205349 rs7545024 A G 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.223,G/0.777;PC=0.004;Gene=PIP5K1A/NM_001135636.1/0;CC=c.603+170A>G;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.600+170A>G;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.639+170A>G;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.600+170A>G;VC=Intron;DM=PIP5K1A/PIP5K;DM=PIP5K1A/PIP5K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:332:38.42:0.00:38.42:1.00:0.00:1.00:60:57.7:0:0:96:55:30:NM_001135638.1(PIP5K1A) c.639+170A>G,NM_001135638.1(PIP5K1A) c.639+170A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 151206974 . T . . NT END=151209033;NT GT ./. 1 151209063 rs12407426 C T 139 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.3586,T/0.6414;PC=0.605;Gene=PIP5K1A/NM_001135636.1/0;CC=c.933C>T;ProtCh=p.Y311=;VC=Silent;Gene=PIP5K1A/NM_001135637.1/0;CC=c.930C>T;ProtCh=p.Y310=;VC=Silent;Gene=PIP5K1A/NM_001135638.1/1;CC=c.969C>T;ProtCh=p.Y323=;VC=Silent;Gene=PIP5K1A/NM_003557.2/0;CC=c.930C>T;ProtCh=p.Y310=;VC=Silent;DM=PIP5K1A/PIP5K;DM=PIP5K1A/PIP5K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:65:0:0:32,43:1056,1411:0.00,139.41:0.00,107.13:0.00,32.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,43.6:0,0:0,0:68,67:81,81:39,35:-,NM_001135638.1(PIP5K1A) c.969C>T (p.(=)):-,0.65:-,0.68676 1 151209241 . T . . NT END=151210657;NT GT ./. 1 151209297 rs369523470 C CTT 13 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;Gene=PIP5K1A/NM_001135636.1/0;CC=c.1109+80_1109+81insTT;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.1106+80_1106+81insTT;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.1145+80_1145+81insTT;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.1106+80_1106+81insTT;VC=Intron;DM=PIP5K1A/PIP5K;DM=PIP5K1A/PIP5K;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,T,CTT,D:28:4:10:5:17,4,5,2:533,112,307,155:0.00,8.43,12.70,4.13:0.00,-0.15,-0.20,-0.08:0.00,8.59,12.90,4.21:0.00,0.00,0.78,0.00:0.00,0.00,0.46,0.00:0.00,0.00,0.98,0.00:60,60,60,60:8.6,68.0,19.8,64.5:0,0,5,3:0,0,0,0:133,54,88,72:18,96,62,78:7,49,27,28:-,NM_001135638.1(PIP5K1A) c.1145+58_1145+59insTT:-,NOT_FOUND:-,NOT_FOUND 1 151210743 . T . . NT END=151211605;NT GT ./. 1 151210789 rs7532935 C T 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4054,T/0.5946;Gene=PIP5K1A/NM_001135636.1/0;CC=c.1110-817C>T;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.1190+48C>T;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.1229+48C>T;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.1190+48C>T;VC=Intron;DM=PIP5K1A/PIP5K;DM=PIP5K1A/PIP5K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:3:0:0:10,10:272,269:0.00,25.63:0.00,0.29:0.00,25.34:0.00,1.00:0.00,0.89:0.00,1.00:60,60:5.7,57.2:0,0:0,0:84,119:63,31:26,29:-,NM_001135638.1(PIP5K1A) c.1229+48C>T:-,0.61:-,0.640166 1 151211656 . T . . NT END=151212430;NT GT ./. 1 151211752 rs587671827 CT C 8 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=10;PC=0.002;Gene=PIP5K1A/NM_001135636.1/0;CC=c.1158+112delT;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.1239+112delT;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.1278+112delT;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.1239+112delT;VC=Intron;DM=PIP5K1A/PIP5K;DM=PIP5K1A/PIP5K;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:CT,I,C:12:3:1:3:8,1,3:265,30,95:0.00,2.10,8.13:0.00,-0.08,-0.25:0.00,2.17,8.38:0.00,0.00,0.59:0.00,0.00,0.61:0.00,0.00,0.93:60,60,60:1.2,18.0,11.7:0,0,0:0,0,0:143,120,69:6,19,82:4,0,17:-,NM_001135638.1(PIP5K1A) c.1278+99delT:-,NOT_FOUND:-,NOT_FOUND 1 151212399 rs76472239 C CCTT 132 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.2202,CCTT/0.7798,CTCT/.;DB;DBA=NA;PAF=NA;NP=3336;Gene=PIP5K1A/NM_001135636.1/0;CC=c.1159-30_1159-29insTCT;VC=Intron;Gene=PIP5K1A/NM_001135637.1/0;CC=c.1240-30_1240-29insTCT;VC=Intron;Gene=PIP5K1A/NM_001135638.1/1;CC=c.1279-30_1279-29insTCT;VC=Intron;Gene=PIP5K1A/NM_003557.2/0;CC=c.1240-30_1240-29insTCT;VC=Intron;DM=PIP5K1A/PIP5K;DM=PIP5K1A/PIP5K;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CCTT:42:33:38:0:4,38:125,1195:0.00,131.88:0.00,75.30:0.00,56.58:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.5,4.7:1,0:0,0:142,57:3,93:5,20:-,NM_001135638.1(PIP5K1A) c.1279-32_1279-31insCTT:-,0.8:-,NOT_FOUND 1 151212517 . T . . NT END=151214598;NT GT ./. 1 151214747 . T . . NT END=151214913;NT GT ./. 1 151215045 . T . . NT END=151219395;NT GT ./. 1 151219443 . T . . NT END=151220338;NT GT ./. 1 151220343 . C . . NT END=151227258;NT GT ./. 1 151220596 rs6661347 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.02196,C/0.978,G/.;Gene=PIP5K1A/NM_001135636.1/0;CC=c.*255T>C;VC=3UTR;Gene=PIP5K1A/NM_001135637.1/0;CC=c.*255T>C;VC=3UTR;Gene=PIP5K1A/NM_001135638.1/1;CC=c.*255T>C;VC=3UTR;Gene=PIP5K1A/NM_003557.2/0;CC=c.*255T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:152:17.58:0.00:17.58:1.00:0.00:1.00:60:30.4:0:0:119:32:26:NM_001135638.1(PIP5K1A) c.=,NM_001135638.1(PIP5K1A) c.=:0.98,0.98:NOT_FOUND,NOT_FOUND 1 151227285 . G . . NT END=151234636;NT GT ./. 1 151227371 rs3811405 A G 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.2388,G/0.7612;Gene=PSMD4/NM_002810.2/1;CC=c.26+87A>G;VC=Intron;DM=PSMD4/VWA_2;DM=PSMD4/VWA_2;DM=PSMD4/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,D:46:21:0:1:23,21,1,1:791,668,13,32:0.00,63.58,0.13,1.80:0.00,26.53,0.30,-0.05:0.00,37.04,-0.17,1.85:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:39.2,66.2,147.0,40.0:0,0,0,0:0,0,0,0:96,114,112,64:52,31,34,87:25,19,0,0:-,NM_002810.2(PSMD4) c.26+87A>G:-,0.77:-,NOT_FOUND 1 151234778 . G . . NT END=151236389;NT GT ./. 1 151236505 . G . . NT END=151237307;NT GT ./. 1 151237395 . G . . NT END=151237641;NT GT ./. 1 151237589 rs398074304 TC T 111 rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=TC/0.3572,T/0.6428;DB;DBA=NA;PAF=TC/0.3572,T/0.6428;DB;DBA=NA;PAF=TC/0.3572,T/0.6428;NP=1987;Gene=PSMD4/NM_002810.2/1;CC=c.370-46delC;VC=Intron;DM=PSMD4/VWA_2;DM=PSMD4/VWA_2;DM=PSMD4/VWA_2;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:TC,T:33:26:0:32:1,32:32,976:0.00,110.90:0.00,64.33:0.00,46.57:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.0,19.6:0,0:0,0:128,51:4,97:0,35:NM_002810.2(PSMD4) c.370-52delC,NM_002810.2(PSMD4) c.370-52delC:NOT_FOUND,NOT_FOUND:0.689787,0.689787 1 151237711 . G . . NT END=151237869;NT GT ./. 1 151238086 . G . . NT END=151238479;NT GT ./. 1 151238222 rs2275900 G A 79 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3908,A/0.6092;Gene=PSMD4/NM_002810.2/1;CC=c.654+137G>A;VC=Intron;DM=PSMD4/UIM;DM=PSMD4/UIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A,T:26:5:0:0:25,1:674,20:78.70,1.09:13.42,0.00:65.28,1.09:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,61.0:0,0:0,0:93,130:57,12:43,0:NM_002810.2(PSMD4) c.654+137G>A,NM_002810.2(PSMD4) c.654+137G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 151238598 . G . . NT END=151238783;NT GT ./. 1 151238916 . G . . NT END=151238995;NT GT ./. 1 151239051 rs7489 T C 287 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.3646,C/0.6354;PC=0.014;Gene=PSMD4/NM_002810.2/1;CC=c.951T>C;ProtCh=p.S317=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:42:0:0:83:2484:287.43:102.56:184.87:1.00:1.00:1.00:60:39.3:0:0:93:51:29:NM_002810.2(PSMD4) c.951T>C (p.(=)),NM_002810.2(PSMD4) c.951T>C (p.(=)):0.65,0.65:0.681301,0.681301 1 151239064 . G . . NT END=151239648;NT GT ./. 1 151239570 rs10888408 C T 123 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3828,T/0.6172;Gene=PSMD4/NM_002810.2/1;CC=c.964-79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:G,T:36:29:0:0:1,35:19,1071:0.88,123.24:0.88,82.36:0.00,40.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:163.0,33.9:0,0:0,0:101,39:50,112:0,25:NM_002810.2(PSMD4) c.964-79C>T,NM_002810.2(PSMD4) c.964-79C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 151239820 . G . . NT END=151254545;NT GT ./. 1 151240008 rs41302131 A G 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3594,G/0.6406 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:158:18.18:0.00:18.18:1.00:0.00:1.00:60:33.6:0:0:91:60:42:chr1 g.151240007A>G (intergenic),chr1 g.151240007A>G (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 1 151254556 . G . . NT END=151254790;NT GT ./. 1 151254872 . G . . NT END=151255562;NT GT ./. 1 151255795 . G . . NT END=151256282;NT GT ./. 1 151256088 rs4522000 C G 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.391,G/0.609;Gene=ZNF687/NM_001304764.1/0;CC=c.-18+1904C>G;VC=Intron;Gene=ZNF687/NM_001304763.1/1;CC=c.-887+1217C>G;VC=Intron;Gene=ZNF687/NM_020832.2/0;CC=c.-18+1217C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:13:0:0:14:434:50.02:47.35:2.67:1.00:1.00:1.00:60:54.9:0:0:36:114:25:NM_020832.1(ZNF687) c.-18+1217C>G,NM_020832.1(ZNF687) c.-18+1217C>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 151256742 . G . . NT END=151258750;NT GT ./. 1 151260883 . G . . NT END=151261003;NT GT ./. 1 151261183 . G . . NT END=151261570;NT GT ./. 1 151261748 . G . . NT END=151261853;NT GT ./. 1 151262017 . G . . NT END=151262153;NT GT ./. 1 151262484 . G . . NT END=151262597;NT GT ./. 1 151262711 . G . . NT END=151262907;NT GT ./. 1 151263050 . G . . NT END=151263190;NT GT ./. 1 151263677 rs145032688 G GACA 232 PASS VT=INS;SST=Single;DP=179;DB;DBA=NA;PAF=G/0.9836,GACA/0.01637;NP=256;PC=1.000;Gene=ZNF687/NM_001304764.1/0;CC=c.3709_3711dupAAC;ProtCh=p.N1237_*1238insN;VC=InFrameIns;Gene=ZNF687/NM_001304763.1/1;CC=c.3709_3711dupAAC;ProtCh=p.N1237_*1238insN;VC=InFrameIns;Gene=ZNF687/NM_020832.2/0;CC=c.3709_3711dupAAC;ProtCh=p.N1237_*1238insN;VC=InFrameIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,GACA:179:98:79:0:2,1,97,79:38,13,3069,2473:1.13,-0.13,0.00,232.45:-0.18,0.03,0.00,101.15:1.31,-0.16,0.00,131.30:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:120.5,140.0,17.8,11.2:1,0,1,0:0,0,0,0:30,0,73,72:119,151,62,72:30,0,32,29:-,NM_020832.1(ZNF687) c.3709_3711dupAAC (p.Asn1237dup):-,0.02:-,0.04873 1 151263686 . T . . NT END=151265327;NT GT ./. 1 151263782 rs10788803 A G 275 nt VT=SNV;PN=A;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.4295,G/0.5705;Gene=ZNF687/NM_001304764.1/0;CC=c.*97A>G;VC=3UTR;Gene=ZNF687/NM_001304763.1/1;CC=c.*97A>G;VC=3UTR;Gene=ZNF687/NM_020832.2/0;CC=c.*97A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:77:16:0:0:77:2389:275.34:35.61:239.73:1.00:1.00:1.00:60:41.6:0:0:105:45:28:NM_020832.1(ZNF687) c.*97A>G,NM_020832.1(ZNF687) c.*97A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 1 151265510 . C . . NT END=151265515;NT GT ./. 1 151265939 . C . . NT END=151266493;NT GT ./. 1 151265959 . T G 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;PC=0.002;Gene=PI4KB/NM_001198773.1/1;CC=c.2225-450A>C;VC=Intron;Gene=PI4KB/NM_001198775.1/0;CC=c.1274-450A>C;VC=Intron;Gene=PI4KB/NM_002651.2/0;CC=c.2306-450A>C;VC=Intron;Gene=PI4KB/NM_001198774.1/0;CC=c.2225-450A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G,T:31:8:0:0:1,6,24:9,102,670:-0.12,6.59,0.00:-0.08,-0.51,0.00:-0.05,7.10,0.00:0.00,0.90,0.00:0.00,0.78,0.00:0.00,0.99,0.00:60,60,60:74.0,106.3,41.1:0,0,0:0,0,0:35,103,114:110,39,25:0,23,21:NM_002651.2(PI4KB) c.2306-450A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 151266615 . C . . NT END=151266884;NT GT ./. 1 151267018 . C . . NT END=151271283;NT GT ./. 1 151271550 . C . . NT END=151274319;NT GT ./. 1 151274444 . C . . NT END=151274669;NT GT ./. 1 151274775 . C . . NT END=151276016;NT GT ./. 1 151276127 . C . . NT END=151278611;NT GT ./. 1 151278505 rs2031797 A G 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.2586,G/0.7414;Gene=PI4KB/NM_001198773.1/1;CC=c.1365+107T>C;VC=Intron;Gene=PI4KB/NM_001198775.1/0;CC=c.414+107T>C;VC=Intron;Gene=PI4KB/NM_002651.2/0;CC=c.1446+107T>C;VC=Intron;Gene=PI4KB/NM_001198774.1/0;CC=c.1365+107T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:21:0:0:21:593:69.15:69.15:0.00:1.00:1.00:0.00:60:40.7:0:0:35:116:20:NM_002651.2(PI4KB) c.1446+107T>C,NM_002651.2(PI4KB) c.1446+107T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 151278840 . C . . NT END=151280049;NT GT ./. 1 151280278 . C . . NT END=151282686;NT GT ./. 1 151280400 rs1536617 C G 60 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2472,A/.,G/0.7528;PC=0.001;Gene=PI4KB/NM_001198773.1/1;CC=c.910-123G>C;VC=Intron;Gene=PI4KB/NM_001198775.1/0;CC=c.-42-123G>C;VC=Intron;Gene=PI4KB/NM_002651.2/0;CC=c.991-123G>C;VC=Intron;Gene=PI4KB/NM_001198774.1/0;CC=c.910-123G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:0:0:0:16:524:60.02:0.00:60.02:1.00:0.00:1.00:60:40.9:0:0:95:56:23:NM_002651.2(PI4KB) c.991-123G>C,NM_002651.2(PI4KB) c.991-123G>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 151282732 . C . . NT END=151288048;NT GT ./. 1 151288172 rs1056847 G A 348 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.4904,A/0.5096;PC=1.000;Gene=PI4KB/NM_001198773.1/1;CC=c.786C>T;ProtCh=p.D262=;VC=Silent;Gene=PI4KB/NM_001198775.1/0;CC=c.-42-7895C>T;VC=Intron;Gene=PI4KB/NM_002651.2/0;CC=c.822C>T;ProtCh=p.D274=;VC=Silent;Gene=PI4KB/NM_001198774.1/0;CC=c.786C>T;ProtCh=p.D262=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:96:63:0:0:96:3026:348.25:184.36:163.89:1.00:1.00:1.00:60:41.1:0:0:62:85:39:NM_002651.2(PI4KB) c.822C>T (p.(=)),NM_002651.2(PI4KB) c.822C>T (p.(=)):0.53,0.53:0.545364,0.545364 1 151288391 rs1752379 A G 420 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=G/0.02177,A/0.9782;PC=0.081;Gene=PI4KB/NM_001198773.1/1;CC=c.567T>C;ProtCh=p.D189=;VC=Silent;Gene=PI4KB/NM_001198775.1/0;CC=c.-42-8114T>C;VC=Intron;Gene=PI4KB/NM_002651.2/0;CC=c.603T>C;ProtCh=p.D201=;VC=Silent;Gene=PI4KB/NM_001198774.1/0;CC=c.567T>C;ProtCh=p.D189=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:121:81:0:0:2,119:21,3669:0.00,419.88:0.00,215.36:0.00,204.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:117.0,40.2:0,0:0,0:91,65:58,82:48,34:NM_002651.2(PI4KB) c.=,NM_002651.2(PI4KB) c.=:0.98,0.98:0.975473,0.975473 1 151288986 . C . . NT END=151297220;NT GT ./. 1 151297394 . C . . NT END=151298647;NT GT ./. 1 151297436 rs78278355 T C 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.9694,C/0.03055,G/.;Gene=PI4KB/NM_001198773.1/1;CC=c.-201-43A>G;VC=Intron;Gene=PI4KB/NM_001198775.1/0;CC=c.-43+2311A>G;VC=Intron;Gene=PI4KB/NM_002651.2/0;CC=c.8+1212A>G;VC=Intron;Gene=PI4KB/NM_001198774.1/0;CC=c.-29+2311A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:43:9:0:0:19,1,23:475,7,706:43.86,-0.13,0.00:8.98,-0.04,0.00:34.88,-0.10,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:70,60,60:45.9,60.0,19.8:0,0,0:0,0,0:102,27,108:49,124,43:29,0,34:NM_002651.2(PI4KB) c.8+1212A>G,-:0.02,-:NOT_FOUND,- 1 151297464 rs572033691 CT C 10 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=CT/0.8123,C/0.1877;PC=0.004;Gene=PI4KB/NM_001198773.1/1;CC=c.-201-72delA;VC=Intron;Gene=PI4KB/NM_001198775.1/0;CC=c.-43+2282delA;VC=Intron;Gene=PI4KB/NM_002651.2/0;CC=c.8+1183delA;VC=Intron;Gene=PI4KB/NM_001198774.1/0;CC=c.-29+2282delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,CT,T,I,C:26:3:6:7:1,15,2,4,4:10,420,23,133,229:0.05,0.00,0.65,5.98,10.06:-0.03,0.00,-0.06,-0.12,-0.12:0.08,0.00,0.71,6.10,10.18:0.00,0.00,0.00,0.00,0.64:0.00,0.00,0.00,0.00,0.39:0.00,0.00,0.00,0.00,0.95:60,60,60,70,60:19.0,37.3,37.5,118.0,29.8:0,0,0,2,3:0,0,0,0,0:17,131,45,79,74:133,17,105,72,77:0,10,15,10,29:-,NM_002651.2(PI4KB) c.8+1183delA:-,NOT_FOUND:-,NOT_FOUND 1 151298656 . T . . NT END=151314661;NT GT ./. 1 151301631 rs71580371 T TACAC 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=14;NP=2;NP=4;NP=43;PC=0.089;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:T,TACAC:6:3:3:0:3,3:88,98:0.00,9.43:0.00,3.13:0.00,6.30:0.00,0.73:0.00,0.89:0.00,0.51:60,60:0.0,40.0:0,0:0,0:128,54:23,97:4,11:-,NM_002651.2(PI4KB) c.-581-u1499_-581-u1498insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 151314379 rs1752387 T C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2356,C/0.7644;PC=0.010;Gene=RFX5/NM_000449.3/1;CC=c.*283A>G;VC=3UTR;Gene=RFX5/NM_001025603.1/0;CC=c.*283A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:202:23.06:23.06:0.00:1.00:1.00:0.00:60:61.3:0:0:55:93:35:NM_000449.3(RFX5) c.*283A>G,NM_000449.3(RFX5) c.*283A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 151315655 . C . . NT END=151315817;NT GT ./. 1 151315919 . C . . NT END=151316156;NT GT ./. 1 151316161 rs1752386 G A 252 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.02196,A/0.978;PC=0.957;Gene=RFX5/NM_000449.3/1;CC=c.753C>T;ProtCh=p.L251=;VC=Silent;Gene=RFX5/NM_001025603.1/0;CC=c.753C>T;ProtCh=p.L251=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:56:0:0:67:2197:251.59:169.74:81.85:1.00:1.00:1.00:60:40.8:0:0:73:68:38:NM_000449.3(RFX5) c.=,NM_000449.3(RFX5) c.=:0.98,0.98:0.975242,0.975242 1 151316359 . C . . NT END=151316672;NT GT ./. 1 151316755 . C . . NT END=151316892;NT GT ./. 1 151317013 . C . . NT END=151317203;NT GT ./. 1 151317324 . C . . NT END=151317581;NT GT ./. 1 151317665 . C . . NT END=151318403;NT GT ./. 1 151318087 . CAA C 12 rn VT=DEL;SST=Single;DP=6;PC=0.003;Gene=RFX5/NM_000449.3/1;CC=c.150+315_150+316delTT;VC=Intron;Gene=RFX5/NM_001025603.1/0;CC=c.150+315_150+316delTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:CAA,C:5:5:0:5:1,4:32,145:0.00,11.92:0.00,8.92:0.00,3.00:0.00,0.93:0.00,0.99:0.00,0.78:60,70:69.0,27.2:0,1:0,0:3,36:146,104:0,17:-,NM_000449.3(RFX5) c.150+315_150+316delTT:-,NOT_FOUND:-,NOT_FOUND 1 151318438 . C . . NT END=151318680;NT GT ./. 1 151318797 . C . . NT END=151337018;NT GT ./. 1 151337182 . C . . NT END=151337401;NT GT ./. 1 151337521 . C . . NT END=151337664;NT GT ./. 1 151337758 . C . . NT END=151338038;NT GT ./. 1 151337788 rs10788804 A G 173 nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.4916,G/0.5084;PC=0.001;Gene=SELENBP1/NM_001258288.1/0;CC=c.859-31T>C;VC=Intron;Gene=SELENBP1/NM_001258289.1/1;CC=c.1171-31T>C;VC=Intron;Gene=SELENBP1/NM_003944.3/0;CC=c.1045-31T>C;VC=Intron;DM=SELENBP1/SBP56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:G:48:28:0:0:48:1507:173.39:69.51:103.88:1.00:1.00:1.00:60:42.0:0:0:98:41:30:NM_001258289.1(SELENBP1) c.1171-31T>C,NM_001258289.1(SELENBP1) c.1171-31T>C:0.51,0.51:0.526069,0.526069 1 151338161 . C . . NT END=151338243;NT GT ./. 1 151338323 . C . . NT END=151338750;NT GT ./. 1 151338383 rs115463556 G C 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.9984,C/0.001597;NP=23;PC=0.004;Gene=SELENBP1/NM_001258288.1/0;CC=c.658-61C>G;VC=Intron;Gene=SELENBP1/NM_001258289.1/1;CC=c.970-61C>G;VC=Intron;Gene=SELENBP1/NM_003944.3/0;CC=c.844-61C>G;VC=Intron;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:54:20:0:0:1,25,28:10,857,940:-0.06,81.71,0.00:0.13,26.54,0.00:-0.19,55.16,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:178.0,39.7,11.3:0,0,0:0,0,0:105,117,102:46,34,45:0,21,36:NM_001258289.1(SELENBP1) c.970-61C>G,-:0.0027,-:NOT_FOUND,- 1 151338570 rs2800953 G A 78 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.2296,A/0.7704;Gene=SELENBP1/NM_001258288.1/0;CC=c.657+181C>T;VC=Intron;Gene=SELENBP1/NM_001258289.1/1;CC=c.969+181C>T;VC=Intron;Gene=SELENBP1/NM_003944.3/0;CC=c.843+181C>T;VC=Intron;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:12:0:0:23:674:78.20:42.59:35.61:1.00:1.00:1.00:60:43.6:0:0:50:101:40:NM_001258289.1(SELENBP1) c.969+181C>T,NM_001258289.1(SELENBP1) c.969+181C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 1 151338930 . C . . NT END=151339197;NT GT ./. 1 151339381 . C . . NT END=151339491;NT GT ./. 1 151339511 . A . . NT END=151340674;NT GT ./. 1 151340796 . C . . NT END=151341479;NT GT ./. 1 151341417 rs744459 G A 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.8724,A/0.1276;Gene=SELENBP1/NM_001258288.1/0;CC=c.174+501C>T;VC=Intron;Gene=SELENBP1/NM_001258289.1/1;CC=c.486+63C>T;VC=Intron;Gene=SELENBP1/NM_003944.3/0;CC=c.360+63C>T;VC=Intron;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:52:0:0:19,35:607,1026:54.58,0.00:45.95,0.00:8.63,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.3,10.7:0,0:0,0:33,30:118,117:28,22:NM_001258289.1(SELENBP1) c.486+63C>T,-:0.14,-:NOT_FOUND,- 1 151341666 . C . . NT END=151341917;NT GT ./. 1 151341728 rs397981545 G GC 48 nt VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.5056,GC/0.4944;DB;DBA=NA;PAF=G/0.5056,GC/0.4944;NP=2306;Gene=SELENBP1/NM_001258288.1/0;CC=c.174+189_174+190insG;VC=Intron;Gene=SELENBP1/NM_001258289.1/1;CC=c.301-64_301-63insG;VC=Intron;Gene=SELENBP1/NM_003944.3/0;CC=c.175-64_175-63insG;VC=Intron;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;DM=SELENBP1/SBP56;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:58:24:17:0:41,17:1284,553:0.00,48.20:0.00,10.97:0.00,37.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,11.4:1,0:0,0:99,99:48,51:32,23:-,NM_001258289.1(SELENBP1) c.301-64_301-63insG:-,0.52:-,NOT_FOUND 1 151342031 . C . . NT END=151342188;NT GT ./. 1 151342455 . C . . NT END=151345113;NT GT ./. 1 151345118 . G . . NT END=151372063;NT GT ./. 1 151372138 rs7172 G A 196 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=G/0.507,A/0.493;Gene=PSMB4/NM_002796.2/1;CC=c.75G>A;ProtCh=p.P25=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:128:75:0:0:64,64:2043,2011:196.31,0.00:85.13,0.00:111.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,14.0:0,0:0,0:87,77:57,69:31,26:NM_002796.2(PSMB4) c.75G>A (p.(=)),-:0.49,-:0.674074,- 1 151372204 . G . . NT END=151372456;NT GT ./. 1 151372664 . G . . NT END=151372917;NT GT ./. 1 151372770 rs2495390 A G 122 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.02196,G/0.978;PC=0.002;Gene=PSMB4/NM_002796.2/1;CC=c.347+107A>G;VC=Intron;DM=PSMB4/Proteasome GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:22:0:0:35:1052:121.77:73.50:48.27:1.00:1.00:1.00:60:48.1:0:0:73:78:34:NM_002796.2(PSMB4) c.347+107A>G,NM_002796.2(PSMB4) c.347+107A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 151373065 . G . . NT END=151373239;NT GT ./. 1 151373200 rs2495391 T C 265 nt VT=SNV;PN=A;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.02416,A/.,C/0.9758;Gene=PSMB4/NM_002796.2/1;CC=c.495-40T>C;VC=Intron;DM=PSMB4/Proteasome GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:41:0:0:72:2303:264.57:125.08:139.48:1.00:1.00:1.00:60:37.6:0:0:63:85:33:NM_002796.2(PSMB4) c.495-40T>C,NM_002796.2(PSMB4) c.495-40T>C:0.98,0.98:0.970321,0.970321 1 151373322 . G . . NT END=151373714;NT GT ./. 1 151373832 . G . . NT END=151374017;NT GT ./. 1 151374025 rs4603 T C 27 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8079,C/0.1921;PC=1.000;Gene=PSMB4/NM_002796.2/1;CC=c.701T>C;ProtCh=p.I234T;VC=Missense;DM=PSMB4/Proteasome GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:19:0:0:9,14:297,406:27.33,0.00:21.25,0.00:6.08,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:38.9,12.8:0,0:0,0:46,47:105,102:34,26:NM_002796.2(PSMB4) c.701T>C (p.Ile234Thr),-:0.2,-:0.146163,- 1 151374107 . G . . NT END=151374292;NT GT ./. 1 151374306 . A . . NT END=151375658;NT GT ./. 1 151374545 rs1887544 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2161,T/0.7839 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,T:7:0:0:0:3,4:104,125:0.00,12.33:0.00,0.00:0.00,12.33:0.00,0.99:0.00,0.00:0.00,0.99:60,60:4.3,31.2:0,0:0,0:110,92:41,59:26,16:-,chr1 g.151374544C>T (intergenic):-,0.78:-,NOT_FOUND 1 151375584 rs3811409 T C 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.8736,C/0.1264;PC=0.079;Gene=POGZ/NM_207171.2/0;CC=c.*1694A>G;VC=3UTR;Gene=POGZ/NM_001194937.1/1;CC=c.*1694A>G;VC=3UTR;Gene=POGZ/NM_001194938.1/0;CC=c.*1694A>G;VC=3UTR;Gene=POGZ/NM_015100.3/0;CC=c.*1694A>G;VC=3UTR;Gene=POGZ/NM_145796.3/0;CC=c.*1694A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:33:0:0:17,16:521,502:50.24,0.00:50.24,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.2,5.4:0,0:0,0:50,70:100,80:38,20:NM_015100.3(POGZ) c.*1694A>G,-:0.14,-:NOT_FOUND,- 1 151377008 . TA T 14 idl,rn VT=DEL;SST=Single;DP=93;NP=6;Gene=POGZ/NM_207171.2/0;CC=c.*269delT;VC=3UTR;Gene=POGZ/NM_001194937.1/1;CC=c.*269delT;VC=3UTR;Gene=POGZ/NM_001194938.1/0;CC=c.*269delT;VC=3UTR;Gene=POGZ/NM_015100.3/0;CC=c.*269delT;VC=3UTR;Gene=POGZ/NM_145796.3/0;CC=c.*269delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,G,TA,I,T:91:59:7:8:2,1,75,6,7:19,13,2138,203,243:-0.34,-0.15,0.00,10.78,13.95:-0.38,-0.20,0.00,7.72,10.88:0.04,0.05,0.00,3.06,3.07:0.00,0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.00,0.92:60,60,60,60,60:67.5,152.0,13.1,25.8,11.9:0,0,0,1,1:0,0,0,0,0:45,130,86,27,67:103,-12,61,119,83:34,0,43,22,33:-,NM_015100.3(POGZ) c.*257T[12]:-,NOT_FOUND:-,NOT_FOUND 1 151377248 rs6667714 T C 298 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.02416,C/0.9758,G/.;Gene=POGZ/NM_207171.2/0;CC=c.*30A>G;VC=3UTR;Gene=POGZ/NM_001194937.1/1;CC=c.*30A>G;VC=3UTR;Gene=POGZ/NM_001194938.1/0;CC=c.*30A>G;VC=3UTR;Gene=POGZ/NM_015100.3/0;CC=c.*30A>G;VC=3UTR;Gene=POGZ/NM_145796.3/0;CC=c.*30A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:88:46:0:0:1,86,1:18,2577,23:0.48,297.58,0.88:0.00,143.13,0.00:0.48,154.45,0.88:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:104.0,47.0,97.0:0,0,0:0,0,0:88,54,25:62,93,116:0,31,0:NM_015100.3(POGZ) c.*30A>G,NM_015100.3(POGZ) c.*30A>G:0.98,0.98:0.970385,0.970385 1 151378941 . C . . NT END=151379082;NT GT ./. 1 151379108 . C . . NT END=151379386;NT GT ./. 1 151379250 rs2274535 G A 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.508,A/0.492;PC=0.003;Gene=POGZ/NM_207171.2/0;CC=c.2386+137C>T;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.2518+137C>T;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.2359+137C>T;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.2545+137C>T;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.2260+137C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:14:0:0:13,14:448,383:42.95,0.00:18.64,0.00:24.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,10.1:0,0:0,0:67,126:84,25:43,19:NM_015100.3(POGZ) c.2545+137C>T,-:0.49,-:NOT_FOUND,- 1 151379500 . C . . NT END=151379710;NT GT ./. 1 151379768 . C . . NT END=151380575;NT GT ./. 1 151380502 . AAAAAAG A 7 nt VT=DEL;SST=Single;DP=24;NP=12;PC=0.029;Gene=POGZ/NM_207171.2/0;CC=c.2216+68_2216+73delCTTTTT;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.2348+68_2348+73delCTTTTT;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.2189+68_2189+73delCTTTTT;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.2375+68_2375+73delCTTTTT;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.2090+68_2090+73delCTTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:AAAAAAG,A:24:21:0:3:21,3:683,97:0.00,7.21:0.00,7.41:0.00,-0.20:0.00,0.47:0.00,0.87:0.00,0.42:60,60:33.7,15.0:11,0:0,0:34,64:111,87:27,4:-,NM_015100.3(POGZ) c.2375+68_2375+73delCTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 151380503 rs369570327 AAAAAG A 10 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=195;PC=0.029;Gene=POGZ/NM_207171.2/0;CC=c.2216+68_2216+72delCTTTT;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.2348+68_2348+72delCTTTT;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.2189+68_2189+72delCTTTT;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.2375+68_2375+72delCTTTT;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.2090+68_2090+72delCTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:AAAAAG,A:23:20:0:7:19,4:577,125:0.00,9.80:0.00,10.13:0.00,-0.33:0.00,0.69:0.00,0.94:0.00,0.60:60,60:36.4,35.0:7,0:0,0:13,67:129,80:13,32:-,NM_015100.3(POGZ) c.2375+68_2375+72delCTTTT:-,NOT_FOUND:-,NOT_FOUND 1 151380504 rs547839701 AAAAG A 14 idl,nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=AAAAG/0.007388,A/0.9926;DB;DBA=NA;PAF=AAAAG/0.007388,A/0.9926;NP=262;PC=0.029;Gene=POGZ/NM_207171.2/0;CC=c.2216+68_2216+71delCTTT;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.2348+68_2348+71delCTTT;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.2189+68_2189+71delCTTT;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.2375+68_2375+71delCTTT;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.2090+68_2090+71delCTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:AAAAG,A:17:14:0:13:12,5:380,164:0.00,14.31:0.00,14.84:0.00,-0.53:0.00,0.88:0.00,0.98:0.00,0.76:60,60:35.8,25.0:3,0:0,0:9,45:139,106:4,9:-,NM_015100.3(POGZ) c.2375+68_2375+71delCTTT:-,NOT_FOUND:-,NOT_FOUND 1 151380508 . GAA A,G 32 idl;end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:10:A,GAA,G:11:9:0:16:9,1,1:294,13,31:32.20,0.00,2.50:22.93,0.00,2.50:9.27,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:32.7,14.0,0.0:0,0,0:0,0,0:12,148,8:139,1,142:4,0,0:NM_015100.3(POGZ) c.2375+67_2375+68delTC,NM_015100.3(POGZ) c.2375+66_2375+67delTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 151380717 . C . . NT END=151380884;NT GT ./. 1 151381058 . C . . NT END=151381169;NT GT ./. 1 151381305 . C . . NT END=151384100;NT GT ./. 1 151381320 rs397840595 GA G 71 rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=GA/0.508,G/0.492;DB;DBA=NA;PAF=GA/0.508,G/0.492;NP=2983;PC=0.012;Gene=POGZ/NM_207171.2/0;CC=c.1768-17delT;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.1900-17delT;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.1741-17delT;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.1927-17delT;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.1642-17delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:55:21:0:24:31,24:996,761:0.00,71.20:0.00,16.73:0.00,54.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,14.5:0,0:0,0:96,86:55,61:30,31:-,NM_015100.3(POGZ) c.1927-17delT:-,NOT_FOUND:-,0.672871 1 151384052 . T TA 7 rn VT=INS;SST=Single;DP=24;NP=9;PC=0.001;Gene=POGZ/NM_207171.2/0;CC=c.1767+48dupT;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.1899+48dupT;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.1740+48dupT;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.1926+48dupT;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.1641+48dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,T,TA,D:24:23:3:2:1,18,3,2:33,524,95,67:2.07,0.00,7.19,4.82:0.90,0.00,5.96,3.50:1.16,0.00,1.22,1.32:0.00,0.00,0.47,0.00:0.00,0.00,0.89,0.00:0.00,0.00,0.53,0.00:60,60,60,60:33.0,28.9,0.0,0.0:0,0,0,0:0,0,0,0:18,62,54,70:132,82,94,79:0,46,32,21:-,NM_015100.3(POGZ) c.1926+48_1926+49insT:-,NOT_FOUND:-,NOT_FOUND 1 151384275 . C . . NT END=151384771;NT GT ./. 1 151384711 rs1887545 A G 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2159,G/0.7841;Gene=POGZ/NM_207171.2/0;CC=c.1620+61T>C;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.1752+61T>C;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.1593+61T>C;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.1779+61T>C;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.1494+61T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,G:15:15:0:0:5,10:168,334:0.00,34.02:0.00,34.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.4,78.6:0,0:0,0:96,56:55,93:17,37:-,NM_015100.3(POGZ) c.1779+61T>C:-,0.78:-,NOT_FOUND 1 151384733 rs3748550 G A 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2159,A/0.7841;Gene=POGZ/NM_207171.2/0;CC=c.1620+39C>T;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.1752+39C>T;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.1593+39C>T;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.1779+39C>T;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.1494+39C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:A,G:20:20:0:0:13,7:413,185:41.88,0.00:38.14,0.00:3.74,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:67.1,8.1:0,0:0,0:37,62:113,89:28,56:NM_015100.3(POGZ) c.1779+39C>T,-:0.78,-:0.825235,- 1 151384873 . C . . NT END=151395872;NT GT ./. 1 151395782 rs2274533 T C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.4475,C/0.5525;Gene=POGZ/NM_207171.2/0;CC=c.1519+91A>G;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.1651+91A>G;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.1492+91A>G;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.1678+91A>G;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.1393+91A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:10,14:312,446:28.87,0.00:28.99,0.00:-0.12,0.00:1.00,0.00:1.00,0.00:0.61,0.00:60,60:40.8,2.2:0,0:0,0:37,51:113,97:11,21:NM_015100.3(POGZ) c.1678+91A>G,-:0.54,-:NOT_FOUND,- 1 151396028 . C . . NT END=151396424;NT GT ./. 1 151396037 rs2274534 A C 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.5092,C/0.4908,T/.;PC=0.444;Gene=POGZ/NM_207171.2/0;CC=c.1365-10T>G;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.1497-10T>G;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.1338-10T>G;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.1524-10T>G;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.1239-10T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:52:22:0:0:31,21:1013,641:0.00,58.83:0.00,16.61:0.00,42.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,33.9:0,0:0,0:92,114:49,37:30,20:-,NM_015100.3(POGZ) c.1524-10T>G:-,0.49:-,0.673151 1 151396763 . C . . NT END=151397430;NT GT ./. 1 151397538 . C . . NT END=151400298;NT GT ./. 1 151400518 . C . . NT END=151400598;NT GT ./. 1 151400890 . C . . NT END=151402078;NT GT ./. 1 151400942 rs11204811 A C 66 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.4968,C/0.5032;PC=0.002;Gene=POGZ/NM_207171.2/0;CC=c.410-53T>G;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.569-53T>G;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.410-53T>G;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.569-53T>G;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.284-53T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:58:12:0:0:33,25:971,715:0.00,66.14:0.00,12.49:0.00,53.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,34.3:0,0:0,0:102,102:48,49:24,30:-,NM_015100.3(POGZ) c.569-53T>G:-,0.51:-,NOT_FOUND 1 151402045 rs6587577 A G 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.241,G/0.759;Gene=POGZ/NM_207171.2/0;CC=c.409+34T>C;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.568+34T>C;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.409+34T>C;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.568+34T>C;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.284-1156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:21:0:0:7,16:222,460:0.00,47.47:0.00,27.92:0.00,19.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,44.3:0,0:0,0:49,35:102,108:11,30:-,NM_015100.3(POGZ) c.568+34T>C:-,0.76:-,0.801861 1 151402188 . C . . NT END=151403141;NT GT ./. 1 151403318 . C . . NT END=151413403;NT GT ./. 1 151403334 rs540774974 G GA 15 idl,rn VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9681,GA/0.02935,GAA/0.002596,GAAA/.;NP=7;PC=0.001;Gene=POGZ/NM_207171.2/0;CC=c.125-18dupT;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.284-18dupT;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.125-18dupT;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.284-18dupT;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.284-2446dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,G,GA,D:69:25:7:5:2,56,7,4:51,1690,213,167:2.31,0.00,15.09,8.81:-0.15,0.00,5.01,7.40:2.46,0.00,10.08,1.42:0.00,0.00,0.89,0.00:0.00,0.00,0.84,0.00:0.00,0.00,0.99,0.00:60,60,60,60:65.5,17.5,10.4,0.0:1,0,0,1:0,0,0,0:19,113,101,82:131,35,49,65:18,16,29,21:-,NM_015100.3(POGZ) c.284-18_284-17insT:-,NOT_FOUND:-,NOT_FOUND 1 151403380 rs200747364 CTTTATTTTAT C 23 idl,nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=POGZ/NM_207171.2/0;CC=c.125-73_125-64delATAAAATAAA;VC=Intron;Gene=POGZ/NM_001194937.1/1;CC=c.284-73_284-64delATAAAATAAA;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.125-73_125-64delATAAAATAAA;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.284-73_284-64delATAAAATAAA;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.284-2501_284-2492delATAAAATAAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTATTTTAT,C:33:9:0:12:24,9:802,354:0.00,23.08:0.00,0.72:0.00,22.35:0.00,0.99:0.00,0.89:0.00,1.00:60,60:11.3,28.6:0,3:0,0:126,83:22,58:16,11:-,NM_015100.3(POGZ) c.284-73_284-64delATAAAATAAA:-,NOT_FOUND:-,NOT_FOUND 1 151413563 . C . . NT END=151414556;NT GT ./. 1 151414681 . G . . NT END=151490995;NT GT ./. 1 151414924 rs9659456 A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1522,G/0.8478;PC=0.001;Gene=POGZ/NM_001194937.1/1;CC=c.-1-243T>C;VC=Intron;Gene=POGZ/NM_001194938.1/0;CC=c.-1-243T>C;VC=Intron;Gene=POGZ/NM_015100.3/0;CC=c.-1-243T>C;VC=Intron;Gene=POGZ/NM_145796.3/0;CC=c.-1-243T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:5:0:0:0:2,3:62,82:0.00,8.14:0.00,0.00:0.00,8.14:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,40.3:0,0:0,0:116,61:35,90:33,14:-,NM_015100.3(POGZ) c.-1-243T>C:-,0.83:-,NOT_FOUND 1 151491869 . G . . NT END=151492641;NT GT ./. 1 151492743 . G . . NT END=151492889;NT GT ./. 1 151492960 . G . . NT END=151493071;NT GT ./. 1 151493168 . G . . NT END=151495909;NT GT ./. 1 151495796 rs2337359 T C 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5349,C/0.4651;Gene=CGN/NM_020770.2/1;CC=c.1141-114T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:10,8:336,252:33.00,0.00:33.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.6,16.0:0,0:0,0:20,60:130,91:16,29:NM_020770.2(CGN) c.1141-114T>C,-:0.46,-:NOT_FOUND,- 1 151496038 . G . . NT END=151496701;NT GT ./. 1 151496835 . G . . NT END=151497149;NT GT ./. 1 151497140 rs1573130 T C 100 nt VT=SNV;PN=A;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.5347,C/0.4653;Gene=CGN/NM_020770.2/1;CC=c.1402-10T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:65:0:0:33,43:1065,1352:99.63,0.00:72.22,0.00:27.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.3,15.0:0,0:0,0:64,33:85,114:29,23:NM_020770.2(CGN) c.1402-10T>C,-:0.46,-:0.257664,- 1 151497202 rs12038198 G A 139 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.9008,A/0.09924;PC=0.949;Gene=CGN/NM_020770.2/1;CC=c.1454G>A;ProtCh=p.R485Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:115:95:0:0:48,66,1:1502,2088,7:139.32,0.00,-0.22:92.40,0.00,-0.16:46.92,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:49.4,10.7,133.0:0,0,0:0,0,0:55,55,65:92,88,85:36,36,0:NM_020770.2(CGN) c.1454G>A (p.Arg485Gln),-:0.09,-:0.023604,- 1 151497363 . G . . NT END=151498117;NT GT ./. 1 151497376 rs1573129 G A 99 nt VT=SNV;PN=A;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.6402,A/0.3598;PC=0.303;Gene=CGN/NM_020770.2/1;CC=c.1614+14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:30:0:0:33,33:1031,1111:98.96,0.00:24.41,0.00:74.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,5.4:0,0:0,0:99,86:50,55:27,27:NM_020770.2(CGN) c.1614+14G>A,-:0.37,-:0.159766,- 1 151498267 . G . . NT END=151499450;NT GT ./. 1 151499584 . G . . NT END=151501825;NT GT ./. 1 151499635 rs2298168 C T 101 nt VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.4994,T/0.5006;Gene=CGN/NM_020770.2/1;CC=c.1896+52C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:28:0:0:34,32:1095,1052:0.00,100.63:0.00,31.44:0.00,69.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.3,36.7:0,0:0,0:113,119:38,23:20,21:-,NM_020770.2(CGN) c.1896+52C>T:-,0.51:-,0.689356 1 151499731 rs2298167 G A 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5339,A/0.4661;Gene=CGN/NM_020770.2/1;CC=c.1896+148G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:0:0:0:10,13:299,451:27.82,0.00:0.00,0.00:27.82,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.3,25.2:0,0:0,0:117,119:33,32:28,20:NM_020770.2(CGN) c.1896+148G>A,-:0.46,-:NOT_FOUND,- 1 151501698 rs2096232 A G 60 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.06729,G/0.9327;Gene=CGN/NM_020770.2/1;CC=c.1897-128A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C,G:20:20:0:0:1,19:11,518:0.43,60.33:0.43,60.33:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:68.0,63.1:0,0:0,0:117,44:34,107:0,25:NM_020770.2(CGN) c.1897-128A>G,NM_020770.2(CGN) c.1897-128A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 151501737 rs6678068 T C 141 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.0637,C/0.9363;Gene=CGN/NM_020770.2/1;CC=c.1897-89T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:C,G:41:41:0:0:40,1:1222,5:140.80,0.05:136.73,0.05:4.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.5,63.0:0,0:0,0:25,34:124,116:18,0:NM_020770.2(CGN) c.1897-89T>C,NM_020770.2(CGN) c.1897-89T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 151501841 rs12044926 C G 143 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.8994,G/0.1006;PC=0.968;Gene=CGN/NM_020770.2/1;CC=c.1912C>G;ProtCh=p.Q638E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:109:94:0:0:62,47:1918,1532:0.00,143.32:0.00,83.71:0.00,59.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.0,50.6:0,0:0,0:48,54:90,88:31,38:-,NM_020770.2(CGN) c.1912C>G (p.Gln638Glu):-,0.09:-,0.034676 1 151502036 . G . . NT END=151502384;NT GT ./. 1 151502592 . G . . NT END=151502964;NT GT ./. 1 151503223 . G . . NT END=151504877;NT GT ./. 1 151504690 rs7549296 G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7366,A/0.2634;PC=0.005;Gene=CGN/NM_020770.2/1;CC=c.2572-188G>A;VC=Intron;DM=CGN/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:12:12:0:0:5,7:152,244:14.04,0.00:14.04,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:42.4,1.1:0,0:0,0:21,74:130,76:13,24:NM_020770.2(CGN) c.2572-188G>A,-:0.25,-:NOT_FOUND,- 1 151505049 . G . . NT END=151506450;NT GT ./. 1 151505088 rs79973178 C CT 9 idl,rn VT=INS;SST=Single;DP=56;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.103;Gene=CGN/NM_020770.2/1;CC=c.2742+61_2742+62insT;VC=Intron;DM=CGN/Myosin_tail_1;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T,CT,D:52:22:7:4:43,2,5,2:1346,38,200,112:0.00,1.32,8.72,2.63:0.00,-0.22,-0.55,-0.22:0.00,1.53,9.26,2.84:0.00,0.00,0.70,0.00:0.00,0.00,0.76,0.00:0.00,0.00,0.96,0.00:60,60,60,60:10.3,66.5,24.2,63.5:0,1,2,2:0,0,0,0:125,63,69,96:22,87,80,54:18,62,14,21:-,NM_020770.2(CGN) c.2742+40_2742+41insT:-,NOT_FOUND:-,NOT_FOUND 1 151506613 . G . . NT END=151507517;NT GT ./. 1 151507608 . G . . NT END=151508075;NT GT ./. 1 151508061 rs11204842 A C 77 nt VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.7364,C/0.2636;Gene=CGN/NM_020770.2/1;CC=c.2995-15A>C;VC=Intron;DM=CGN/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:54:0:0:36,27:1158,826:0.00,76.79:0.00,57.05:0.00,19.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,40.5:0,0:0,0:53,55:97,93:35,27:-,NM_020770.2(CGN) c.2995-15A>C:-,0.25:-,0.368907 1 151508160 . G . . NT END=151508255;NT GT ./. 1 151508375 . G . . NT END=151508712;NT GT ./. 1 151508822 . G . . NT END=151509205;NT GT ./. 1 151509370 . G . . NT END=151509680;NT GT ./. 1 151509823 . C . . NT END=151512842;NT GT ./. 1 151509966 rs5777776 T TA 28 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;NP=454;PC=0.073;Gene=CGN/NM_020770.2/1;CC=c.*156dupA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:T,TA:11:0:10:0:2,9:58,287:0.00,28.14:0.00,0.00:0.00,28.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,68.9:0,1:0,0:92,74:58,74:32,16:-,NM_020770.2(CGN) c.*156dupA:-,NOT_FOUND:-,NOT_FOUND 1 151510026 rs1418823 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2069,G/0.7931;Gene=CGN/NM_020770.2/1;CC=c.*204A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G:9:0:0:0:2,7:63,230:0.00,24.27:0.00,0.00:0.00,24.27:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,70.3:0,0:0,0:68,120:82,30:51,10:-,NM_020770.2(CGN) c.*204A>G:-,0.83:-,NOT_FOUND 1 151512895 rs3828054 A G 178 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.8882,G/0.1118;PC=0.289;Gene=TUFT1/NM_001126337.1/0;CC=c.53A>G;ProtCh=p.Q18R;VC=Missense;Gene=TUFT1/NM_020127.2/0;CC=c.53A>G;ProtCh=p.Q18R;VC=Missense;Gene=TUFT1/NM_001301317.1/1;CC=c.-30A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:119:72:0:0:59,60:1928,1857:0.00,178.42:0.00,82.92:0.00,95.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,37.5:0,0:0,0:84,85:64,61:28,33:-,NM_020127.2(TUFT1) c.53A>G (p.Gln18Arg):-,0.1:-,0.134323 1 151512903 . G . . NT END=151534027;NT GT ./. 1 151529849 rs71090190 TAATCATCA T 19 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TAATCATCA/0.7368,T/0.2632;DB;DBA=NA;PAF=TAATCATCA/0.7368,T/0.2632;NP=48;PC=0.015;Gene=TUFT1/NM_001126337.1/0;CC=c.61-5208_61-5201delCATCAAAT;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.61-4714_61-4707delCATCAAAT;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.-22-4341_-22-4334delCATCAAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:TAATCATCA,T:11:11:0:6:5,6:133,195:0.00,19.10:0.00,17.40:0.00,1.71:0.00,0.98:0.00,0.98:0.00,0.70:60,60:26.2,0.0:0,0:0,0:54,72:88,78:13,48:-,NM_020127.2(TUFT1) c.61-4717_61-4710delAATCATCA:-,0.23:-,NOT_FOUND 1 151533941 . G GCA 18 idl,nt VT=INS;SST=Single;DP=13;Gene=TUFT1/NM_001126337.1/0;CC=c.61-1119_61-1118insAC;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.61-625_61-624insAC;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.-22-252_-22-251insAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:G,GCA:12:13:7:2:6,6:187,217:0.00,17.53:0.00,17.80:0.00,-0.27:0.00,0.97:0.00,0.97:0.00,0.76:60,60:106.7,173.0:1,1:0,0:44,50:84,99:18,23:-,NM_020127.2(TUFT1) c.61-626_61-625insCA:-,NOT_FOUND:-,NOT_FOUND 1 151533943 rs61819524 G A 39 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.05651,A/0.9435;Gene=TUFT1/NM_001126337.1/0;CC=c.61-1118G>A;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.61-624G>A;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.-22-251G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G:12:11:0:2:11,1:355,32:39.25,0.00:34.79,0.00:4.46,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:152.9,116.0:7,1:0,0:43,50:106,100:12,0:NM_020127.2(TUFT1) c.61-624G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 151533945 rs61819525 G A 42 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.05651,A/0.9435;NP=40;Gene=TUFT1/NM_001126337.1/0;CC=c.61-1116G>A;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.61-622G>A;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.-22-249G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:14:13:0:0:12,2:388,70:42.02,0.00:37.06,0.00:4.96,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:149.8,0.0:7,2:0,0:46,121:101,29:11,9:NM_020127.2(TUFT1) c.61-622G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 151533947 rs61819526 G A 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.352,A/0.648;NP=270;PC=0.001;Gene=TUFT1/NM_001126337.1/0;CC=c.61-1114G>A;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.61-620G>A;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.-22-247G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:14:13:0:0:12,2:406,56:43.83,0.00:38.57,0.00:5.26,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:149.8,0.0:0,2:0,0:48,123:99,27:11,9:NM_020127.2(TUFT1) c.61-620G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 151533949 rs61819527 G A 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.05651,A/0.9435;NP=291;PC=0.020;Gene=TUFT1/NM_001126337.1/0;CC=c.61-1112G>A;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.61-618G>A;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.-22-245G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,G:14:13:0:0:12,2:379,40:41.26,0.00:37.94,0.00:3.32,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:149.8,0.0:0,2:0,0:50,125:97,25:11,9:NM_020127.2(TUFT1) c.61-618G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 151534333 . G . . NT END=151534566;NT GT ./. 1 151534642 . G . . NT END=151535060;NT GT ./. 1 151535020 rs34211422 A ATC 41 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.751,ATC/0.249,ATCTC/.,ATCTCTC/.;DB;DBA=NA;PAF=NA;NP=1;NP=762;PC=0.001;Gene=TUFT1/NM_001126337.1/0;CC=c.61-17_61-16insTC;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.136-17_136-16insTC;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.193-17_193-16insTC;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATC,D:58:48:15:8:37,15,6:1094,475,220:0.00,41.04,14.30:0.00,22.18,10.27:0.00,18.86,4.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.5,3.7,11.3:1,0,1:0,0,0:49,48,39:95,103,112:31,23,15:-,NM_020127.2(TUFT1) c.136-41_136-40insTC:-,NOT_FOUND:-,NOT_FOUND 1 151535163 . G . . NT END=151536379;NT GT ./. 1 151536467 . G . . NT END=151537000;NT GT ./. 1 151537091 . G . . NT END=151538638;NT GT ./. 1 151537266 rs12037928 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9002,T/0.09984;Gene=TUFT1/NM_001126337.1/0;CC=c.339+176C>T;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.414+176C>T;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.471+176C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:6:0:0:0:2,4:60,126:0.00,12.85:0.00,0.00:0.00,12.85:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,63.0:0,0:0,0:64,83:85,67:29,56:-,NM_020127.2(TUFT1) c.414+176C>T:-,0.09:-,NOT_FOUND 1 151538366 rs3790506 G A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7492,A/0.2508;Gene=TUFT1/NM_001126337.1/0;CC=c.340-273G>A;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.415-273G>A;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.472-273G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:171:19.92:19.92:0.00:1.00:1.00:0.00:60:117.3:0:0:51:97:25:NM_020127.2(TUFT1) c.415-273G>A,NM_020127.2(TUFT1) c.415-273G>A:0.25,0.25:NOT_FOUND,NOT_FOUND 1 151538412 rs11204849 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6322,A/0.3678;PC=0.002;Gene=TUFT1/NM_001126337.1/0;CC=c.340-227G>A;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.415-227G>A;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.472-227G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:A,G:6:6:0:0:4,2:85,39:8.75,0.00:8.75,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:134.8,82.5:0,0:0,0:83,123:53,27:14,3:NM_020127.2(TUFT1) c.415-227G>A,-:0.37,-:NOT_FOUND,- 1 151538705 . G . . NT END=151542132;NT GT ./. 1 151538784 rs57179871 T TTC 40 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7977,TTC/0.2023;DB;DBA=NA;PAF=T/0.7977,TTC/0.2023,TTCTC/.;NP=134;Gene=TUFT1/NM_001126337.1/0;CC=c.405+100_405+101insTC;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.480+100_480+101insTC;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.537+100_537+101insTC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTC,D:29:4:14:2:14,13,2:433,446,65:0.00,39.83,4.69:0.00,6.85,-0.02:0.00,32.97,4.70:0.00,1.00,0.00:0.00,0.90,0.00:0.00,1.00,0.00:60,60,60:7.9,13.1,12.0:0,1,0:0,0,0:112,85,97:38,66,53:19,33,15:-,NM_020127.2(TUFT1) c.480+80_480+81insTC:-,NOT_FOUND:-,NOT_FOUND 1 151542099 rs3748610 G T 171 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.49,A/.,T/0.51;Gene=TUFT1/NM_001126337.1/0;CC=c.406-34G>T;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.481-34G>T;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.538-34G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:40:0:0:47:1489:171.17:117.42:53.75:1.00:1.00:1.00:60:43.1:0:0:32:117:18:NM_020127.2(TUFT1) c.481-34G>T,NM_020127.2(TUFT1) c.481-34G>T:0.54,0.54:0.624789,0.624789 1 151542247 . G . . NT END=151546745;NT GT ./. 1 151546875 . G . . NT END=151547386;NT GT ./. 1 151546931 rs6660238 A G 366 nt VT=SNV;PN=C;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.09944,G/0.9006;Gene=TUFT1/NM_001126337.1/0;CC=c.648+57A>G;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.723+57A>G;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.780+57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:104:40:0:0:104:3171:366.35:87.24:279.11:1.00:1.00:1.00:60:39.8:0:0:90:59:31:NM_020127.2(TUFT1) c.723+57A>G,NM_020127.2(TUFT1) c.723+57A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 1 151547482 . G . . NT END=151551196;NT GT ./. 1 151551078 rs1544218 A G 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.222,G/0.778;Gene=TUFT1/NM_001126337.1/0;CC=c.744-119A>G;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.819-119A>G;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.876-119A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:20:0:0:20:576:66.96:66.96:0.00:1.00:1.00:0.00:60:33.6:0:0:46:105:29:NM_020127.2(TUFT1) c.819-119A>G,NM_020127.2(TUFT1) c.819-119A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 151551303 . G . . NT END=151552124;NT GT ./. 1 151551320 rs3748608 G A 252 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.5403,A/0.4597;Gene=TUFT1/NM_001126337.1/0;CC=c.849+18G>A;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.924+18G>A;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.981+18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:A,C:70:32:0:0:69,1:2197,11:252.03,0.17:68.02,0.00:184.01,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,146.0:0,0:0,0:95,24:50,107:26,0:NM_020127.2(TUFT1) c.924+18G>A,NM_020127.2(TUFT1) c.924+18G>A:0.5,0.5:0.575193,0.575193 1 151552209 . G . . NT END=151553417;NT GT ./. 1 151552301 rs3833527 TG T 73 sb,nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=TG/0.5399,T/0.4601;NP=1515;Gene=TUFT1/NM_001126337.1/0;CC=c.933+94delG;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.1008+94delG;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.1065+94delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:1:0:21:20:639:73.43:1.84:71.59:1.00:1.00:1.00:60:15.4:0:0:100:50:29:NM_020127.2(TUFT1) c.1008+94delG,NM_020127.2(TUFT1) c.1008+94delG:0.5,0.5:NOT_FOUND,NOT_FOUND 1 151553519 . G . . NT END=151554119;NT GT ./. 1 151553918 rs10494267 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5393,T/0.4607;Gene=TUFT1/NM_001126337.1/0;CC=c.1035-202C>T;VC=Intron;Gene=TUFT1/NM_020127.2/0;CC=c.1110-202C>T;VC=Intron;Gene=TUFT1/NM_001301317.1/1;CC=c.1167-202C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:219:25.24:25.24:0.00:1.00:1.00:0.00:60:33.1:0:0:61:90:16:NM_020127.2(TUFT1) c.1110-202C>T,NM_020127.2(TUFT1) c.1110-202C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 151554184 . G . . NT END=151584677;NT GT ./. 1 151584989 . G . . NT END=151588132;NT GT ./. 1 151588279 rs1196356 T A 154 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.1671,A/0.8329;Gene=SNX27/NM_030918.5/1;CC=c.311+3291T>A;VC=Intron;DM=SNX27/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:16:0:0:41:1345:154.03:40.89:113.13:1.00:1.00:1.00:60:39.7:0:0:79:67:45:NM_030918.5(SNX27) c.311+3291T>A,NM_030918.5(SNX27) c.311+3291T>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 151588335 . G . . NT END=151611363;NT GT ./. 1 151611596 . G . . NT END=151630710;NT GT ./. 1 151630904 . G . . NT END=151633273;NT GT ./. 1 151633339 . G . . NT END=151634641;NT GT ./. 1 151634512 rs397762476 A AT 48 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5515,AT/0.4485;DB;DBA=NA;PAF=A/0.5515,AT/0.4485;DB;DBA=NA;PAF=A/0.5515,AT/0.4485;NP=942;PC=0.002;Gene=SNX27/NM_030918.5/1;CC=c.802-123dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,AT:16:16:14:0:2,14:65,435:0.00,47.56:0.00,47.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.0,4.3:0,0:0,0:130,43:8,107:13,11:-,NM_030918.5(SNX27) c.802-130_802-129insT:-,NOT_FOUND:-,NOT_FOUND 1 151634747 . G . . NT END=151638408;NT GT ./. 1 151634803 rs11808761 G A 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.73,A/0.27;PC=0.085;Gene=SNX27/NM_030918.5/1;CC=c.906+57G>A;VC=Intron;DM=SNX27/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:2:0:0:22:721:82.59:3.78:78.81:1.00:1.00:1.00:60:43.7:0:0:83:67:29:NM_030918.5(SNX27) c.906+57G>A,NM_030918.5(SNX27) c.906+57G>A:0.32,0.32:NOT_FOUND,NOT_FOUND 1 151638488 . G . . NT END=151640947;NT GT ./. 1 151641112 . G . . NT END=151655831;NT GT ./. 1 151655922 . G . . NT END=151664910;NT GT ./. 1 151664882 rs71093207 C CT 30 idl,rn VT=INS;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=5;Gene=SNX27/NM_030918.5/1;CC=c.1240-3_1240-2insT;VC=Intron;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:68:55:18:12:48,14,6:1311,499,285:0.00,30.07,11.96:0.00,4.88,8.13:0.00,25.19,3.84:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,70,60:34.4,64.0,158.5:0,4,5:0,0,0:87,74,45:27,70,72:24,25,16:-,NM_030918.5(SNX27) c.1240-29_1240-28insT:-,NOT_FOUND:-,NOT_FOUND 1 151665061 . G . . NT END=151665386;NT GT ./. 1 151665516 . G . . NT END=151665899;NT GT ./. 1 151665960 . G . . NT END=151666068;NT GT ./. 1 151666894 . C . . NT END=151677508;NT GT ./. 1 151677645 . C . . NT END=151678297;NT GT ./. 1 151678442 . C . . NT END=151678699;NT GT ./. 1 151678838 . c . . NT END=151679144;NT GT ./. 1 151679211 . C . . NT END=151679620;NT GT ./. 1 151679441 rs1308152 T C 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.4806,C/0.5194;Gene=CELF3/NM_001172648.3/0;CC=c.781+180A>G;VC=Intron;Gene=CELF3/NM_001172649.3/0;CC=c.773-231A>G;VC=Intron;Gene=CELF3/NM_001291106.1/1;CC=c.922+180A>G;VC=Intron;Gene=CELF3/NM_001291107.1/0;CC=c.919+180A>G;VC=Intron;Gene=CELF3/NM_007185.6/0;CC=c.922+180A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:18:0:0:14,13:386,444:37.10,0.00:29.17,0.00:7.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.6,12.5:0,0:0,0:58,68:92,83:47,30:NM_007185.4(CELF3) c.922+180A>G,-:0.48,-:NOT_FOUND,- 1 151679596 rs1308153 G A 95 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.8063,A/0.1937;Gene=CELF3/NM_001172648.3/0;CC=c.781+25C>T;VC=Intron;Gene=CELF3/NM_001172649.3/0;CC=c.773-386C>T;VC=Intron;Gene=CELF3/NM_001291106.1/1;CC=c.922+25C>T;VC=Intron;Gene=CELF3/NM_001291107.1/0;CC=c.919+25C>T;VC=Intron;Gene=CELF3/NM_007185.6/0;CC=c.922+25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:45:0:0:30,28:984,889:95.25,0.00:58.62,0.00:36.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.1,5.1:0,0:0,0:36,52:114,98:23,25:NM_007185.4(CELF3) c.922+25C>T,-:0.14,-:0.058564,- 1 151679771 . C . . NT END=151679982;NT GT ./. 1 151679900 rs10888428 C T 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.4882,T/0.5118;Gene=CELF3/NM_001172648.3/0;CC=c.631+83G>A;VC=Intron;Gene=CELF3/NM_001172649.3/0;CC=c.772+83G>A;VC=Intron;Gene=CELF3/NM_001291106.1/1;CC=c.772+83G>A;VC=Intron;Gene=CELF3/NM_001291107.1/0;CC=c.769+83G>A;VC=Intron;Gene=CELF3/NM_007185.6/0;CC=c.772+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:29:0:0:21,26:658,827:0.00,81.06:0.00,39.76:0.00,41.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,40.2:0,0:0,0:72,80:79,70:45,40:-,NM_007185.4(CELF3) c.772+83G>A:-,0.47:-,NOT_FOUND 1 151680125 . C . . NT END=151680267;NT GT ./. 1 151680412 . C . . NT END=151681473;NT GT ./. 1 151681554 . C . . NT END=151681695;NT GT ./. 1 151681825 . C . . NT END=151682218;NT GT ./. 1 151682268 . C . . NT END=151687069;NT GT ./. 1 151686983 rs939592 T A 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.2913,A/0.7087;Gene=CELF3/NM_001172648.3/0;CC=c.87+87A>T;VC=Intron;Gene=CELF3/NM_001172649.3/0;CC=c.228+87A>T;VC=Intron;Gene=CELF3/NM_001291106.1/1;CC=c.228+87A>T;VC=Intron;Gene=CELF3/NM_001291107.1/0;CC=c.228+87A>T;VC=Intron;Gene=CELF3/NM_007185.6/0;CC=c.228+87A>T;VC=Intron;DM=CELF3/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:24:22:0:0:15,1,8:468,13,228:47.48,0.38,0.00:44.34,-0.13,0.00:3.15,0.51,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:60,60,60:33.1,88.0,10.4:0,0,0:0,0,0:70,5,33:81,145,116:32,0,12:NM_007185.4(CELF3) c.228+87A>T,-:0.67,-:NOT_FOUND,- 1 151687153 . C . . NT END=151688094;NT GT ./. 1 151688497 . T . . NT END=151694012;NT GT ./. 1 151694097 . G . . NT END=151694561;NT GT ./. 1 151694639 . G . . NT END=151700050;NT GT ./. 1 151700098 . G . . NT END=151701241;NT GT ./. 1 151700189 rs72506285 C CCTG 42 sb,nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1234,CCTG/0.8766,CTGC/.;NP=803;PC=0.001;Gene=RIIAD1/NM_001144956.1/1;CC=c.208+93_208+94insTGC;VC=Intron;DM=RIIAD1/RIIa;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,G,CCTG:16:3:12:0:3,1,12:97,13,400:0.00,0.57,42.42:0.00,-0.04,0.97:0.00,0.61,41.44:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:0.0,13.0,9.9:0,0,0:0,0,0:142,0,94:2,150,56:1,0,34:-,NM_001144956.1(RIIAD1) c.208+92_208+93insCTG:-,NOT_FOUND:-,NOT_FOUND 1 151701313 . T . . NT END=151732525;NT GT ./. 1 151732658 . C . . NT END=151733291;NT GT ./. 1 151733376 . C . . NT END=151733926;NT GT ./. 1 151733379 rs57922119 C CA 12 idl,rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=46;Gene=MRPL9/NM_001300733.1/0;CC=c.487-5_487-4insT;VC=Intron;Gene=MRPL9/NM_031420.3/1;CC=c.589-5_589-4insT;VC=Intron;Gene=MRPL9/NR_125331.1/0;VC=NonCoding;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,C,CA,D:40:36:5:11:3,29,5,3:38,957,155,268:1.15,0.00,11.64,7.24:-0.60,0.00,10.37,6.11:1.75,0.00,1.27,1.13:0.00,0.00,0.74,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.79,0.00:60,60,60,60:106.0,9.4,18.6,21.7:0,0,0,5:0,0,0,0:100,113,86,110:51,23,65,41:10,25,14,10:-,NM_031420.2(MRPL9) c.589-5_589-4insT:-,NOT_FOUND:-,NOT_FOUND 1 151734029 . C . . NT END=151734580;NT GT ./. 1 151734632 . C . . NT END=151734851;NT GT ./. 1 151734977 . C . . NT END=151735465;NT GT ./. 1 151735644 . G . . NT END=151735802;NT GT ./. 1 151736024 . G . . NT END=151739130;NT GT ./. 1 151736063 rs565753834 G A 216 nt VT=SNV;PN=G;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.9968,A/0.003195;NP=3;Gene=MRPL9/NM_001300733.1/0;CC=c.-108C>T;VC=5UTR;Gene=MRPL9/NM_031420.3/1;CC=c.-108C>T;VC=5UTR;Gene=MRPL9/NR_125331.1/0;VC=NonCoding;Gene=OAZ3/NM_001134939.1/1;CC=c.32+420G>A;VC=Intron;Gene=OAZ3/NM_001301371.1/0;CC=c.71+22G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:106:22:0:0:64,41,1:2164,1283,15:216.43,0.00,0.10:25.87,0.00,-0.02:190.55,0.00,0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.4,7.3,65.0:0,0,0:0,0,0:104,121,149:41,28,2:30,22,0:NM_016178.2(OAZ3) c.-67-u3068G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 151739365 . G . . NT END=151739638;NT GT ./. 1 151739700 . T . . NT END=151746927;NT GT ./. 1 151746981 . C . . NT END=151747185;NT GT ./. 1 151747043 rs1123855 C T 205 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.6809,T/0.3191;Gene=TDRKH/NM_006862.3/1;CC=c.1634-63G>A;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.1634-63G>A;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.1499-63G>A;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.1634-63G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:T:55:30:0:0:55:1791:205.29:88.50:116.79:1.00:1.00:1.00:60:35.2:0:0:88:62:36:NM_001083965.1(TDRKH) c.1634-63G>A,NM_001083965.1(TDRKH) c.1634-63G>A:0.34,0.34:0.431888,0.431888 1 151747283 . C . . NT END=151747540;NT GT ./. 1 151747643 . C . . NT END=151747867;NT GT ./. 1 151747733 rs1781421 C T 108 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6851,T/0.3149;Gene=TDRKH/NM_006862.3/1;CC=c.1435-91G>A;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.1435-91G>A;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.1300-91G>A;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.1435-91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G,T:31:17:0:0:1,30:11,941:0.32,107.91:0.32,55.87:0.00,52.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:147.0,68.1:0,0:0,0:20,73:131,77:0,26:NM_001083965.1(TDRKH) c.1435-91G>A,NM_001083965.1(TDRKH) c.1435-91G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 151747799 rs1781419 G A 172 nt VT=SNV;PN=G;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.2927,A/0.7073;PC=0.013;Gene=TDRKH/NM_006862.3/1;CC=c.1434+69C>T;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.1434+69C>T;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.1299+69C>T;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.1434+69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A:49:34:0:0:49:1491:172.32:104.65:67.67:1.00:1.00:1.00:60:59.2:0:0:47:98:32:NM_001083965.1(TDRKH) c.1434+69C>T,NM_001083965.1(TDRKH) c.1434+69C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 151748020 . C . . NT END=151748295;NT GT ./. 1 151748361 . C . . NT END=151748571;NT GT ./. 1 151748425 rs3923394 C A 204 nt VT=SNV;PN=T;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.483,A/0.517;Gene=TDRKH/NM_006862.3/1;CC=c.1218-65G>T;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.1218-65G>T;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.1083-65G>T;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.1218-65G>T;VC=Intron;DM=TDRKH/TUDOR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:A:58:40:0:0:58:1761:203.64:127.37:76.27:1.00:1.00:1.00:60:46.5:0:0:83:67:30:NM_001083965.1(TDRKH) c.1218-65G>T,NM_001083965.1(TDRKH) c.1218-65G>T:0.54,0.54:0.647175,0.647175 1 151748745 . C . . NT END=151748914;NT GT ./. 1 151749076 . C . . NT END=151751160;NT GT ./. 1 151749311 rs6684101 G T 39 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6793,T/0.3207;PC=0.002;Gene=TDRKH/NM_006862.3/1;CC=c.884-236C>A;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.884-236C>A;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.749-236C>A;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.884-236C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:1:0:0:11:341:39.34:1.89:37.45:1.00:1.00:1.00:60:50.5:0:0:106:43:26:NM_001083965.1(TDRKH) c.884-236C>A,NM_001083965.1(TDRKH) c.884-236C>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 151750963 rs1996730 C T 151 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.0003994,T/0.9996;NP=3464;PC=1.000;Gene=TDRKH/NM_006862.3/1;CC=c.883+198G>A;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.883+198G>A;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.748+198G>A;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.883+198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G,T:43:39:0:0:1,42:14,1319:0.42,151.38:0.42,122.53:0.00,28.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.0,48.3:0,0:0,0:38,50:113,100:0,31:NM_001083965.1(TDRKH) c.883+198G>A,NM_001083965.1(TDRKH) c.883+198G>A:1,1:NOT_FOUND,NOT_FOUND 1 151751081 rs1996729 G A 255 nt VT=SNV;PN=A;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.6793,A/0.3207;PC=0.941;Gene=TDRKH/NM_006862.3/1;CC=c.883+80C>T;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.883+80C>T;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.748+80C>T;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.883+80C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:A,G:71:60:0:0:70,1:2241,27:255.09,0.00:186.65,0.00:68.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,52:45.5,158.0:0,1:0,0:60,2:85,105:38,0:NM_001083965.1(TDRKH) c.883+80C>T,NM_001083965.1(TDRKH) c.883+80C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 1 151751274 rs17853082 C G 391 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=210;DB;DBA=NA;PAF=C/0.9872,G/0.01278,T/.;PC=0.992;Gene=TDRKH/NM_006862.3/1;CC=c.770G>C;ProtCh=p.G257A;VC=Missense;Gene=TDRKH/NM_001083963.1/0;CC=c.770G>C;ProtCh=p.G257A;VC=Missense;Gene=TDRKH/NM_001083964.1/0;CC=c.635G>C;ProtCh=p.G212A;VC=Missense;Gene=TDRKH/NM_001083965.1/0;CC=c.770G>C;ProtCh=p.G257A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:210:145:0:0:94,116:3141,3983:0.00,390.87:0.00,198.63:0.00,192.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,39.5:0,0:0,0:74,86:71,62:38,34:-,NM_001083965.1(TDRKH) c.770G>C (p.Gly257Ala):-,0.02:-,0.028192 1 151751483 . C . . NT END=151751578;NT GT ./. 1 151751719 . C . . NT END=151752426;NT GT ./. 1 151752617 . C . . NT END=151753956;NT GT ./. 1 151752733 rs140770319 ATACTATCTATACAACCAGTCCTCAATTACTTTATATACAACCTCAGT A 19 nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=26;PC=0.085;Gene=TDRKH/NM_006862.3/1;CC=c.232-164_232-118delACTGAGGTTGTATATAAAGTAATTGAGGACTGGTTGTATAGATAGTA;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.232-164_232-118delACTGAGGTTGTATATAAAGTAATTGAGGACTGGTTGTATAGATAGTA;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.232-164_232-118delACTGAGGTTGTATATAAAGTAATTGAGGACTGGTTGTATAGATAGTA;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.232-164_232-118delACTGAGGTTGTATATAAAGTAATTGAGGACTGGTTGTATAGATAGTA;VC=Intron;DM=TDRKH/KH_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:ATACTATCTATACAACCAGTCCTCAATTACTTTATATACAACCTCAGT,A:33:1:0:8:25,8:772,236:0.00,19.49:0.00,-0.12:0.00,19.61:0.00,0.98:0.00,0.50:0.00,1.00:60,70:9.3,0.0:0,0:0,0:117,66:25,85:22,5:-,NM_001083965.1(TDRKH) c.232-164_232-118delACTGAGGTTGTATATAAAGTAATTGAGGACTGGTTGTATAGATAGTA:-,NOT_FOUND:-,NOT_FOUND 1 151754064 . C . . NT END=151755374;NT GT ./. 1 151754112 rs35077383 T C 224 nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.6793,C/0.3207;Gene=TDRKH/NM_006862.3/1;CC=c.125-49A>G;VC=Intron;Gene=TDRKH/NM_001083963.1/0;CC=c.125-49A>G;VC=Intron;Gene=TDRKH/NM_001083964.1/0;CC=c.125-49A>G;VC=Intron;Gene=TDRKH/NM_001083965.1/0;CC=c.125-49A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:59:23:0:0:59:1959:224.03:52.42:171.60:1.00:1.00:1.00:60:44.1:0:0:98:43:29:NM_001083965.1(TDRKH) c.125-49A>G,NM_001083965.1(TDRKH) c.125-49A>G:0.34,0.34:0.432267,0.432267 1 151755499 . T . . NT END=151773398;NT GT ./. 1 151763815 rs3811416 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:43.5:0:0:50:99:38:NM_001083965.1(TDRKH) c.-182-u805G>A,NM_001083965.1(TDRKH) c.-182-u805G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 151773152 rs1521180 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.01178,G/0.9882;Gene=LINGO4/NM_001004432.3/1;CC=c.*247T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G,T:6:6:0:0:5,1:141,11:16.08,0.82:16.08,0.82:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:66.8,136.0:0,0:0,0:37,96:114,47:19,0:NM_001004432.2(LINGO4) c.=,NM_001004432.2(LINGO4) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 1 151775181 . T . . NT END=151779947;NT GT ./. 1 151780110 . C . . NT END=151783800;NT GT ./. 1 151780177 rs3828057 C T 151 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.7149,T/0.2851;Gene=RORC/NM_001001523.1/0;CC=c.1333-68G>A;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.1396-68G>A;VC=Intron;DM=RORC/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:13:0:0:43:1304:150.77:25.18:125.59:1.00:1.00:1.00:60:41.3:0:0:109:31:25:NM_005060.3(RORC) c.1396-68G>A,NM_005060.3(RORC) c.1396-68G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 151783688 rs939595 A C 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3029,C/0.6971;Gene=RORC/NM_001001523.1/0;CC=c.1332+113T>G;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.1395+113T>G;VC=Intron;DM=RORC/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:515:58.65:58.65:0.00:1.00:1.00:0.00:60:39.3:0:0:22:129:18:NM_005060.3(RORC) c.1395+113T>G,NM_005060.3(RORC) c.1395+113T>G:0.66,0.66:NOT_FOUND,NOT_FOUND 1 151783911 . C . . NT END=151785422;NT GT ./. 1 151785534 . C . . NT END=151785714;NT GT ./. 1 151785823 . C . . NT END=151785963;NT GT ./. 1 151786097 . C . . NT END=151787049;NT GT ./. 1 151786281 rs3828058 G A 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7504,A/0.2496;PC=0.027;Gene=RORC/NM_001001523.1/0;CC=c.871-185C>T;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.934-185C>T;VC=Intron;DM=RORC/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:A,G:16:0:0:0:10,6:278,170:27.99,0.00:0.00,0.00:27.99,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:65.0,8.7:0,0:0,0:77,121:73,30:39,11:NM_005060.3(RORC) c.934-185C>T,-:0.24,-:NOT_FOUND,- 1 151787172 . C . . NT END=151787388;NT GT ./. 1 151787902 . C . . NT END=151789139;NT GT ./. 1 151789282 . C . . NT END=151789670;NT GT ./. 1 151789588 rs151171878 C CTGTGTGTG 23 idl,nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.496,CTG/.,CTGTG/0.03075,CTGTGTG/.,CTGTGTGTG/0.3904,CTGTGTGTGTG/0.02596,CTGTGTGTGTGTG/0.05691;NP=9;Gene=RORC/NM_001001523.1/0;CC=c.93+82_93+83insCACACACA;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.156+82_156+83insCACACACA;VC=Intron;DM=RORC/zf-C4;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CTGTGTGTG:18:21:14:0:1,9,8:10,257,419:0.15,0.00,22.72:0.19,0.00,17.23:-0.04,0.00,5.49:0.00,0.00,0.99:0.00,0.00,0.97:0.00,0.00,0.94:60,60,60:187.0,38.4,147.1:1,1,6:0,0,0:38,106,63:112,21,86:0,8,17:-,NM_005060.3(RORC) c.156+82_156+83insCACACACA:-,NOT_FOUND:-,NOT_FOUND 1 151789607 . TGCGC T 7 nt VT=DEL;SST=Single;DP=27;Gene=RORC/NM_001001523.1/0;CC=c.93+60_93+63delGCGC;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.156+60_156+63delGCGC;VC=Intron;DM=RORC/zf-C4;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:TGCGC,T:27:24:0:3:24,3:705,101:0.00,7.45:0.00,3.47:0.00,3.98:0.00,0.44:0.00,0.87:0.00,0.72:60,60:83.8,33.7:0,0:0,0:75,11:71,140:43,2:-,NM_005060.3(RORC) c.156+60_156+63delGCGC:-,NOT_FOUND:-,NOT_FOUND 1 151789609 rs56273334 C T 67 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.04014,T/0.9599;NP=1867;PC=0.002;Gene=RORC/NM_001001523.1/0;CC=c.93+62G>A;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.156+62G>A;VC=Intron;DM=RORC/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:16:0:3:20:576:67.06:41.93:25.13:1.00:1.00:1.00:60:93.7:0:0:62:81:31:NM_005060.3(RORC) c.156+62G>A,NM_005060.3(RORC) c.156+62G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 151789611 rs55841824 C T 64 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.2147,T/0.7853;NP=1612;Gene=RORC/NM_001001523.1/0;CC=c.93+60G>A;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.156+60G>A;VC=Intron;DM=RORC/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:T:20:16:0:3:20:547:64.02:38.64:25.38:1.00:1.00:1.00:60:93.7:0:0:64:79:31:NM_005060.3(RORC) c.156+60G>A,NM_005060.3(RORC) c.156+60G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 151789647 rs12144914 T G 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6018,G/0.3982;Gene=RORC/NM_001001523.1/0;CC=c.93+24A>C;VC=Intron;Gene=RORC/NM_005060.3/1;CC=c.156+24A>C;VC=Intron;DM=RORC/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:37:28:0:0:1,22,14:12,679,425:0.17,67.92,0.00:0.24,32.63,0.00:-0.07,35.29,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:48.0,77.0,50.2:0,0,0:0,0,0:132,41,58:18,104,90:0,22,36:NM_005060.3(RORC) c.156+24A>C,-:0.43,-:0.443949,- 1 151789757 . C . . NT END=151798405;NT GT ./. 1 151798554 . C . . NT END=151801904;NT GT ./. 1 151801935 . C . . NT END=151803403;NT GT ./. 1 151803097 . T C 7 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;NP=4;Gene=RORC/NM_005060.3/1;CC=c.40+1104A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T,D:8:7:0:3:3,3,2:75,90,92:6.96,0.00,5.32:5.95,0.00,2.71:1.01,0.00,2.62:0.64,0.00,0.00:0.92,0.00,0.00:0.81,0.00,0.00:60,60,60:59.7,24.7,23.0:0,0,1:0,0,0:3,29,33:145,120,107:1,0,11:NM_005060.3(RORC) c.40+1104A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 151803135 rs4995918 C T 17 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.2145,CACACACACACACAT/0.7855,CACACACACACAT/.,CACACACACAT/.;DB;DBA=NA;PAF=NA;Gene=RORC/NM_005060.3/1;CC=c.40+1066G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:C,T,I:13:9:4:0:4,6,3:137,169,130:0.00,16.57,8.61:0.00,8.75,7.31:0.00,7.81,1.29:0.00,0.96,0.00:0.00,0.99,0.00:0.00,0.98,0.00:60,60,60:11.5,51.0,39.0:0,0,1:0,0,0:66,36,72:78,108,77:6,8,5:-,NM_005060.3(RORC) c.40+1066G>A:-,0.54:-,NOT_FOUND 1 151803609 . C . . NT END=151804114;NT GT ./. 1 151803705 rs114103746 C T 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.9752,T/0.02476;Gene=RORC/NM_005060.3/1;CC=c.40+496G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:5:0:0:14,22:436,637:0.00,63.73:0.00,7.50:0.00,56.23:0.00,1.00:0.00,0.99:0.00,1.00:60,60:25.4,47.0:0,0:0,0:82,117:69,32:28,23:-,NM_005060.3(RORC) c.40+496G>A:-,0.02:-,NOT_FOUND 1 151803764 rs12126984 G C 68 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.225,C/0.775;Gene=RORC/NM_005060.3/1;CC=c.40+437C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:C,G:22:1:0:0:21,1:599,12:68.13,0.00:-1.18,0.00:69.31,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:45.4,37.0:0,0:0,0:114,128:37,23:18,0:NM_005060.3(RORC) c.40+437C>G,NM_005060.3(RORC) c.40+437C>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 151804154 . C . . NT END=151804200;NT GT ./. 1 151804241 . G . . NT END=151810403;NT GT ./. 1 151810073 rs4845367 A G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.002596,G/0.9974;NP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:176:19.98:19.98:0.00:1.00:1.00:0.00:60:35.2:0:0:53:98:34:NM_005060.3(RORC) c.-108-u5725T>C,NM_005060.3(RORC) c.-108-u5725T>C:1,1:NOT_FOUND,NOT_FOUND 1 151810304 rs12122596 G C 70 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.4878,C/0.5122 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:48:42:0:0:1,23,24:21,736,711:0.73,70.36,0.00:0.75,57.16,0.00:-0.02,13.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:21.0,41.0,7.0:0,0,0:0,0,0:1,48,22:150,102,127:0,30,17:NM_005060.3(RORC) c.-108-u5956C>G,-:0.46,-:NOT_FOUND,- 1 151811226 rs6673556 G A 705 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=200;DB;DBA=NA;PAF=G/0.06829,A/0.9317;PC=0.994;Gene=C2CD4D/NM_001136003.1/1;CC=c.240C>T;ProtCh=p.C80=;VC=Silent;Gene=LOC100132111/NR_024237.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:200:123:0:0:198,1,1:6138,9,23:705.07,0.04,0.00:350.74,-0.00,0.00:354.33,0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.4,76.0,64.0:0,0,0:0,0,0:74,48,111:74,103,40:36,0,0:NM_001136003.1(C2CD4D) c.240C>T (p.(=)),NM_001136003.1(C2CD4D) c.240C>T (p.(=)):0.94,0.94:NOT_FOUND,NOT_FOUND 1 151811466 . G . . NT END=151819846;NT GT ./. 1 151819891 . C . . NT END=151820213;NT GT ./. 1 151820298 rs6587624 G C 452 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.003395,C/0.9966;NP=3469;PC=0.017;Gene=THEM5/NM_182578.3/1;CC=c.616C>G;ProtCh=p.L206V;VC=Missense;DM=THEM5/4HBT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:119:75:0:0:119:3950:451.67:211.78:239.89:1.00:1.00:1.00:60:68.4:0:0:61:85:32:NM_182578.3(THEM5) c.=,NM_182578.3(THEM5) c.=:1,1:0.99531,0.99531 1 151820324 rs6587625 T C 428 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.222,C/0.778;PC=0.999;Gene=THEM5/NM_182578.3/1;CC=c.590A>G;ProtCh=p.D197G;VC=Missense;DM=THEM5/4HBT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:113:75:0:0:113:3747:428.41:209.12:219.29:1.00:1.00:1.00:60:67.5:0:0:74:71:32:NM_182578.3(THEM5) c.590A>G (p.Asp197Gly),NM_182578.3(THEM5) c.590A>G (p.Asp197Gly):0.8,0.8:0.825465,0.825465 1 151820339 . C . . NT END=151820657;NT GT ./. 1 151820769 . C . . NT END=151823528;NT GT ./. 1 151823668 . C . . NT END=151824733;NT GT ./. 1 151824936 . C . . NT END=151825918;NT GT ./. 1 151825713 rs998500 G C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.494,C/0.506;PC=0.440;Gene=THEM5/NM_182578.3/1;CC=c.123+206C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,G:12:12:0:0:11,1:363,30:40.05,0.00:40.05,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.5,0.0:0,0:0,0:46,2:105,149:33,0:NM_182578.3(THEM5) c.123+206C>G,-:0.59,-:NOT_FOUND,- 1 151825991 rs7556386 G T 449 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=G/0.3734,T/0.6266;PC=0.030;Gene=THEM5/NM_182578.3/1;CC=c.51C>A;ProtCh=p.G17=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:127:88:0:0:1,126:10,3896:0.08,448.95:0.00,207.47:0.08,241.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.0,37.3:0,0:0,0:34,70:116,77:0,34:NM_182578.3(THEM5) c.51C>A (p.(=)),NM_182578.3(THEM5) c.51C>A (p.(=)):0.67,0.67:0.691988,0.691988 1 151826042 . G . . NT END=151847363;NT GT ./. 1 151847180 rs10749666 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.07867,G/0.9213;Gene=THEM4/NM_053055.4/1;CC=c.*184T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:237:27.04:27.04:0.00:1.00:1.00:0.00:60:53.4:0:0:28:122:11:NM_053055.4(THEM4) c.*184T>C,NM_053055.4(THEM4) c.*184T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 151847193 rs11204907 A C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8163,C/0.1837;PC=0.012;Gene=THEM4/NM_053055.4/1;CC=c.*171T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,C:8:8:0:0:4,4:132,111:0.00,10.57:0.00,10.57:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:25.5,68.0:0,0:0,0:27,42:124,106:17,6:-,NM_053055.4(THEM4) c.*171T>G:-,0.26:-,NOT_FOUND 1 151847405 . C . . NT END=151849476;NT GT ./. 1 151849602 . C . . NT END=151860748;NT GT ./. 1 151851456 rs4845660 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1096,C/0.8904;PC=0.161;Gene=THEM4/NM_053055.4/1;CC=c.558-1855A>G;VC=Intron;DM=THEM4/4HBT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:137:15.61:7.65:7.95:1.00:1.00:1.00:60:39.8:0:0:78:71:10:NM_053055.4(THEM4) c.558-1855A>G,NM_053055.4(THEM4) c.558-1855A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 151860860 . C . . NT END=151861689;NT GT ./. 1 151861477 rs1352654 A G 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.12,G/0.88;Gene=THEM4/NM_053055.4/1;CC=c.446+213T>C;VC=Intron;DM=THEM4/4HBT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:196:22.46:22.46:0.00:1.00:1.00:0.00:60:45.2:0:0:18:132:5:NM_053055.4(THEM4) c.446+213T>C,NM_053055.4(THEM4) c.446+213T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 151861850 . C . . NT END=151867483;NT GT ./. 1 151867560 rs3762427 G A 248 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.07688,A/0.9231;PC=0.267;Gene=THEM4/NM_053055.4/1;CC=c.210C>T;ProtCh=p.D70=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:45:0:0:67:2161:247.96:132.20:115.75:1.00:1.00:1.00:60:38.4:0:0:76:66:26:NM_053055.4(THEM4) c.210C>T (p.(=)),NM_053055.4(THEM4) c.210C>T (p.(=)):0.93,0.93:0.911475,0.911475 1 151867671 . C . . NT END=151881835;NT GT ./. 1 151881885 rs3748805 A C 385 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.07708,C/0.9229;Gene=THEM4/NM_053055.4/1;CC=c.50T>G;ProtCh=p.L17R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:107:89:0:0:106,1:3350,11:385.00,0.12:226.66,0.12:158.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,85.0:0,0:0,0:61,34:74,117:24,0:NM_053055.4(THEM4) c.50T>G (p.Leu17Arg),NM_053055.4(THEM4) c.50T>G (p.Leu17Arg):0.93,0.93:NOT_FOUND,NOT_FOUND 1 151881935 . G . . NT END=151955638;NT GT ./. 1 151882084 rs113710528 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.978,A/0.02196;Gene=THEM4/NM_053055.4/1;CC=c.-150C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:A,G:18:0:0:0:5,13:161,419:13.87,0.00:0.00,0.00:13.87,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:58.4,2.3:0,0:0,0:88,112:63,39:18,26:NM_053055.4(THEM4) c.-150C>T,-:0.02,-:NOT_FOUND,- 1 151882124 rs113593498 T A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.978,A/0.02196;PC=0.001;Gene=THEM4/NM_053055.4/1;CC=c.-190A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,T:11:0:0:0:4,7:139,237:12.68,0.00:0.00,0.00:12.68,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:73.2,4.3:0,0:0,0:119,115:31,36:9,31:NM_053055.4(THEM4) c.-190A>T,-:0.02,-:NOT_FOUND,- 1 151882160 rs112039097 A G 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.978,G/0.02196;Gene=THEM4/NM_053055.4/1;CC=c.-226T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:6:0:0:0:3,3:98,87:0.00,8.32:0.00,0.00:0.00,8.32:0.00,0.73:0.00,0.00:0.00,0.73:60,60:10.0,65.3:0,0:0,0:91,71:60,80:23,53:-,NM_053055.4(THEM4) c.-226T>C:-,0.02:-,NOT_FOUND 1 151955801 . C . . NT END=151958574;NT GT ./. 1 151955954 . AT A 13 idl,rn VT=DEL;SST=Single;DP=13;NP=4;PC=0.001;Gene=S100A10/NM_002966.2/1;CC=c.133-155delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:AT,T,A:10:0:0:8:4,1,5:109,12,230:0.00,0.50,13.47:0.00,0.00,0.00:0.00,0.50,13.47:0.00,0.00,0.91:0.00,0.00,0.00:0.00,0.00,0.91:60,60,60:13.5,12.0,11.4:0,0,3:0,0,0:133,52,83:15,98,67:7,0,10:-,NM_002966.2(S100A10) c.133-155delA:-,NOT_FOUND:-,NOT_FOUND 1 151958707 . T . . NT END=152005137;NT GT ./. 1 151990600 rs2932567 G A 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.08546,A/0.9145;PC=0.038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:14:0:0:15:427:49.68:45.80:3.88:1.00:1.00:1.00:60:50.2:0:0:42:100:26:chr1 g.151990599G>A (intergenic),chr1 g.151990599G>A (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 151990981 rs1979638 G A 247 nt VT=SNV;PN=G;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.08686,A/0.9131;PC=0.001;Gene=NBPF18P/NR_103561.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:65:0:0:0:65:2161:246.98:0.00:246.98:1.00:0.00:1.00:60:47.7:0:0:98:49:28:chr1 g.151990980G>A (intergenic),chr1 g.151990980G>A (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 151992774 rs76173644 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9984,T/0.001597;NP=30;PC=0.006;Gene=NBPF18P/NR_103561.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T:7:4:0:0:1,6:32,168:0.00,18.34:0.00,9.41:0.00,8.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,33.8:0,0:0,0:64,75:87,71:0,10:-,chr1 g.151992773C>T (intergenic):-,0.0018:-,NOT_FOUND 1 152005300 . C . . NT END=152006123;NT GT ./. 1 152005327 rs35135981 TA T 58 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=TA/0.8053,T/0.1947;NP=1280;Gene=S100A11/NM_005620.1/1;CC=c.157-29delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:46:18:0:20:26,20:833,622:0.00,58.09:0.00,15.49:0.00,42.59:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.0,11.1:0,0:0,0:88,95:56,55:24,29:-,NM_005620.1(S100A11) c.157-29delT:-,0.19:-,0.27049 1 152005482 rs2999550 C G 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6534,G/0.3466;PC=0.001;Gene=S100A11/NM_005620.1/1;CC=c.157-183G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,G:10:0:0:0:6,4:172,123:0.00,11.30:0.00,0.00:0.00,11.30:0.00,0.84:0.00,0.00:0.00,0.84:60,60:10.8,81.8:0,0:0,0:95,83:55,68:34,20:-,NM_005620.1(S100A11) c.157-183G>C:-,0.33:-,NOT_FOUND 1 152006277 . C . . NT END=152009388;NT GT ./. 1 152009392 . G . . NT END=152057442;NT GT ./. 1 152009530 rs3811422 T C 168 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.1242,C/0.8758 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A,C:45:14:0:0:1,44:9,1470:0.16,167.54:0.00,32.77:0.16,134.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,35.8:0,0:0,0:140,121:11,29:0,19:NM_005620.1(S100A11) c.-120-u19A>G,NM_005620.1(S100A11) c.-120-u19A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 152060020 . C . . NT END=152060481;NT GT ./. 1 152060620 . C . . NT END=152079860;NT GT ./. 1 152060796 rs2935207 A T 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.01058,T/0.9894;NP=902;PC=0.191;Gene=TCHHL1/NM_001008536.1/1;CC=c.-20-157T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:0:0:0:18:557:64.23:0.00:64.23:1.00:0.00:1.00:60:49.5:0:0:78:72:27:NM_001008536.1(TCHHL1) c.-20-157T>A,NM_001008536.1(TCHHL1) c.-20-157T>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 152082364 rs372810614 C T 79 lc VT=SNV;PN=A;NN=A;SST=Single;DP=573;DB;DBA=NA;PAF=NA;NP=5;Gene=TCHH/NM_007113.3/1;CC=c.3329G>A;ProtCh=p.C1110Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:573:355:0:0:7,485,2,79:99,13141,42,1381:-0.17,0.00,0.42,79.38:0.90,0.00,-0.30,35.35:-1.07,0.00,0.72,44.03:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,57,60:95.6,36.9,140.0,75.3:0,2,0,0:0,0,0,0:81,68,51,84:70,71,93,46:23,36,8,35:-,NM_007113.2(TCHH) c.3329G>A (p.Cys1110Tyr):-,NOT_FOUND:-,NOT_FOUND 1 152082484 rs377407296 G T 85 lc VT=SNV;PN=C;NN=T;SST=Single;DP=533;DB;DBA=NA;PAF=NA;NP=2;Gene=TCHH/NM_007113.3/1;CC=c.3209C>A;ProtCh=p.T1070K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:533:315:0:0:3,7,448,75:30,74,12113,1410:-0.96,-1.48,0.00,85.09:-0.37,-0.92,0.00,43.27:-0.59,-0.57,0.00,41.83:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:48.3,75.6,31.5,69.8:0,0,2,1:0,0,0,0:108,97,77,58:30,46,61,71:26,21,38,28:-,NM_007113.2(TCHH) c.3209C>A (p.Thr1070Lys):-,NOT_FOUND:-,NOT_FOUND 1 152082565 . A C 55 lc VT=SNV;PN=G;NN=G;SST=Single;DP=492;NP=1;Gene=TCHH/NM_007113.3/1;CC=c.3128T>G;ProtCh=p.L1043R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,C,G,T,D:492:284:0:1:415,64,6,6,1:11733,1029,63,79,24:0.00,55.05,-1.36,-0.35,0.04:0.00,43.64,-0.10,-0.56,0.25:0.00,11.41,-1.25,0.21,-0.21:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:60,60,60,60,60:31.4,81.7,33.3,122.2,159.0:3,0,0,0,0:0,0,0,0,0:76,67,91,84,35:60,69,43,56,96:32,17,22,6,0:-,NM_007113.2(TCHH) c.3128T>G (p.Leu1043Arg):-,NOT_FOUND:-,NOT_FOUND 1 152082707 rs562507924 A G 58 lc VT=SNV;PN=A;NN=C;SST=Single;DP=431;DB;DBA=NA;PAF=NA;Gene=TCHH/NM_007113.3/1;CC=c.2986T>C;ProtCh=p.L996=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:431:271:0:0:343,14,57,17:8863,166,1000,223:0.00,1.01,57.55,3.40:0.00,1.13,29.67,3.06:0.00,-0.11,27.88,0.34:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:27.3,64.6,78.4,78.8:2,0,0,0:0,0,0,0:78,68,67,93:63,66,71,58:37,22,28,25:-,NM_007113.2(TCHH) c.2986T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 152082822 . T C 46 lc VT=SNV;PN=T;NN=T;SST=Single;DP=335;Gene=TCHH/NM_007113.3/1;CC=c.2871A>G;ProtCh=p.E957=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:C,G,T:335:168:0:0:37,2,296:774,20,8554:45.58,-0.64,0.00:7.28,-0.23,0.00:38.29,-0.41,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:96.7,71.0,24.1:0,0,0:0,0,0:37,90,88:101,57,55:17,29,35:NM_007113.2(TCHH) c.2871A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152085505 rs2515663 A C 361 lc VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.01078,C/0.9892,G/.;NP=3457;PC=0.405;Gene=TCHH/NM_007113.3/1;CC=c.188T>G;ProtCh=p.L63R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:107:50:0:0:106,1:3121,10:361.07,0.09:138.73,0.00:222.34,0.09:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,86.0:0,0:0,0:88,80:62,68:34,0:NM_007113.2(TCHH) c.188T>G (p.Leu63Arg),NM_007113.2(TCHH) c.188T>G (p.Leu63Arg):0.99,0.99:0.990155,0.990155 1 152085555 . C . . NT END=152086418;NT GT ./. 1 152086557 . T . . NT END=152127219;NT GT ./. 1 152127961 . C T 68 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=508;NP=1;Gene=RPTN/NM_001122965.1/1;CC=c.1614G>A;ProtCh=p.M538I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:508:308:0:0:428,2,78:11892,18,1236:0.00,-0.64,68.33:0.00,-0.23,63.59:0.00,-0.42,4.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.5,123.0,59.8:0,0,0:0,0,0:79,85,87:68,43,56:39,7,31:-,NM_001122965.1(RPTN) c.1614G>A (p.Met538Ile):-,NOT_FOUND:-,NOT_FOUND 1 152128232 rs200878903 T C 65 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=457;DB;DBA=NA;PAF=NA;NP=36;Gene=RPTN/NM_001122965.1/1;CC=c.1343A>G;ProtCh=p.N448S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:457:260:0:0:2,66,6,383:18,1128,82,10302:-0.59,64.67,-0.41,0.00:-0.24,28.72,0.82,0.00:-0.35,35.95,-1.23,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:56,60,60,60:88.5,66.4,55.2,28.4:0,0,0,0:0,0,0,0:60,86,116,78:70,51,33,67:16,20,19,37:NM_001122965.1(RPTN) c.1343A>G (p.Asn448Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 152129437 . C . . NT END=152130227;NT GT ./. 1 152130034 rs58634415 G GGT 12 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;PC=0.001;Gene=RPTN/NM_001122965.1/1;CC=c.138+193_138+194insAC;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:G,GGT,D:14:12:5:1:8,5,1:242,133,32:0.00,11.82,2.27:0.00,8.68,2.32:0.00,3.14,-0.05:0.00,0.90,0.00:0.00,0.99,0.00:0.00,0.76,0.00:60,60,60:35.5,17.0,29.0:0,0,0:0,0,0:61,34,22:71,116,129:24,28,0:-,NM_001122965.1(RPTN) c.138+193_138+194insAC:-,NOT_FOUND:-,NOT_FOUND 1 152130366 . T . . NT END=152185551;NT GT ./. 1 152169072 rs78239324 T C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.05751,C/0.9425;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:97:11.59:8.61:2.98:1.00:1.00:1.00:60:98.2:0:0:57:81:11:chr1 g.152169071T>C (intergenic),chr1 g.152169071T>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 1 152169149 rs4295881 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.07328,G/0.9267;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:2:0:0:4:97:11.56:3.23:8.33:1.00:1.00:1.00:60:83.8:0:0:64:87:61:chr1 g.152169148A>G (intergenic),chr1 g.152169148A>G (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 1 152185500 rs12726613 C G 83 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.6226,G/0.3774;Gene=HRNR/NM_001009931.2/1;CC=c.*52G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:62:58:0:0:34,28:1131,885:0.00,83.31:0.00,76.81:0.00,6.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,47.8:0,0:0,0:58,46:80,104:34,27:-,NM_001009931.1(HRNR) c.*52G>C:-,0.34:-,0.192455 1 152185750 rs12729662 G A 392 lc VT=SNV;PN=C;NN=T;SST=Single;DP=198;DB;DBA=NA;PAF=G/0.6573,A/0.3427;Gene=HRNR/NM_001009931.2/1;CC=c.8355C>T;ProtCh=p.Y2785=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:198:154:0:0:123,1,74:3897,8,2276:391.68,-0.13,0.00:259.50,-0.08,0.00:132.18,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.3,119.0,145.1:0,0,0:0,0,0:51,120,99:93,30,41:29,0,18:NM_001009931.1(HRNR) c.8355C>T (p.(=)),-:0.32,-:NOT_FOUND,- 1 152185762 rs41266112 C G 205 lc VT=SNV;PN=A;NN=T;SST=Single;DP=202;DB;DBA=NA;PAF=C/0.4389,G/0.5611,T/.;Gene=HRNR/NM_001009931.2/1;CC=c.8343G>C;ProtCh=p.Q2781H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:202:157:0:0:130,72:4183,2281:0.00,205.26:0.00,132.84:0.00,72.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.6,155.2:0,0:0,0:49,110:94,30:30,14:-,NM_001009931.1(HRNR) c.8343G>C (p.Gln2781His):-,0.57:-,0.742657 1 152185768 rs41266114 T G 150 lc VT=SNV;PN=C;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.8337A>C;ProtCh=p.S2779=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:204:162:0:0:2,63,139:20,1745,4439:-0.40,149.95,0.00:-0.30,89.60,0.00:-0.10,60.35,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:54,60,60:220.0,166.5,38.8:0,0,0:0,0,0:63,116,55:77,24,94:19,14,35:NM_001009931.1(HRNR) c.8337A>C (p.(=)),-:0.52,-:0.703094,- 1 152185774 rs61814932 A G 144 lc VT=SNV;PN=C;NN=G;SST=Single;DP=208;DB;DBA=NA;PAF=A/0.4431,G/0.5569;Gene=HRNR/NM_001009931.2/1;CC=c.8331T>C;ProtCh=p.S2777=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:208:160:0:0:150,58:4769,1695:0.00,143.69:0.00,83.56:0.00,60.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.8,178.1:0,0:0,0:54,121:92,29:35,13:-,NM_001009931.1(HRNR) c.8331T>C (p.(=)):-,0.5:-,NOT_FOUND 1 152185780 rs41266116 G A 145 lc VT=SNV;PN=C;NN=T;SST=Single;DP=213;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.8325C>T;ProtCh=p.H2775=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:213:163:0:0:54,159:1716,4615:145.20,0.00:84.15,0.00:61.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:181.1,33.7:0,0:0,0:126,51:23,95:11,35:NM_001009931.1(HRNR) c.8325C>T (p.(=)),-:0.5,-:NOT_FOUND,- 1 152185790 rs76102381 T C 101 lc VT=SNV;PN=G;NN=G;SST=Single;DP=210;DB;DBA=NA;PAF=T/0.6771,A/.,C/0.3229;Gene=HRNR/NM_001009931.2/1;CC=c.8315A>G;ProtCh=p.H2772R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:210:162:0:0:43,1,166:1267,9,5168:101.20,-0.32,0.00:48.21,-0.20,0.00:52.99,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:205.7,94.0,28.5:0,0,0:0,0,0:123,76,43:25,75,102:10,0,31:NM_001009931.1(HRNR) c.8315A>G (p.His2772Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 152185792 rs74493243 G A 72 lc VT=SNV;PN=G;NN=C;SST=Single;DP=209;DB;DBA=NA;PAF=G/0.6771,A/0.3229;Gene=HRNR/NM_001009931.2/1;CC=c.8313C>T;ProtCh=p.S2771=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:209:158:0:0:32,2,175:949,17,5660:71.59,-0.62,0.00:22.96,-0.46,0.00:48.63,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,54,60:220.3,211.0,29.4:0,0,0:0,0,0:124,99,45:23,52,102:6,31,32:NM_001009931.1(HRNR) c.8313C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152185796 rs41266118 A G 87 lc VT=SNV;PN=A;NN=G;SST=Single;DP=216;DB;DBA=NA;PAF=A/0.6771,G/0.3229;Gene=HRNR/NM_001009931.2/1;CC=c.8309T>C;ProtCh=p.L2770P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:216:162:0:0:176,1,38,1:5637,29,1121,8:0.00,0.73,86.87,-0.35:0.00,0.86,40.20,-0.22:0.00,-0.13,46.67,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:28.0,103.0,206.4,73.0:0,0,0,0:0,0,0,0:45,130,127,79:102,21,19,71:29,0,9,0:-,NM_001009931.1(HRNR) c.8309T>C (p.Leu2770Pro):-,0.48:-,NOT_FOUND 1 152186042 rs12751022 A G 249 lc VT=SNV;PN=C;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.5449,G/0.4551;Gene=HRNR/NM_001009931.2/1;CC=c.8063T>C;ProtCh=p.L2688S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:A,G:74:23:0:0:3,71:41,2201:0.00,248.84:0.00,66.02:0.00,182.82:0.00,1.00:0.00,1.00:0.00,1.00:24,40:38.3,45.3:0,0:0,0:119,91:29,56:3,42:NM_001009931.1(HRNR) c.8063T>C (p.Leu2688Ser),NM_001009931.1(HRNR) c.8063T>C (p.Leu2688Ser):0.52,0.52:NOT_FOUND,NOT_FOUND 1 152186222 rs4845424 T C 36 lc VT=SNV;PN=G;NN=G;SST=Single;DP=243;DB;DBA=NA;PAF=T/0.6404,C/0.3596;NP=36;Gene=HRNR/NM_001009931.2/1;CC=c.7883A>G;ProtCh=p.H2628R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,C,G,T:243:152:0:0:3,21,4,215:31,562,40,6498:-0.74,36.08,-0.89,0.00:-0.23,31.76,-0.02,0.00:-0.51,4.32,-0.88,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:25,40,19,44:136.7,65.1,150.5,15.0:0,0,0,0:0,0,0,0:108,107,103,97:42,35,47,51:3,12,13,24:NM_001009931.1(HRNR) c.7883A>G (p.His2628Arg),-:0.56,-:NOT_FOUND,- 1 152186417 rs150508178 C G 28 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.7688G>C;ProtCh=p.S2563T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,G:115:87:0:0:102,13:3292,390:0.00,27.68:0.00,29.14:0.00,-1.45:0.00,1.00:0.00,1.00:0.00,0.91:27,25:39.6,49.2:0,0:0,0:64,33:78,118:36,28:-,NM_001009931.1(HRNR) c.7688G>C (p.Ser2563Thr):-,NOT_FOUND:-,NOT_FOUND 1 152186432 . G A 71 lc VT=SNV;PN=G;NN=A;SST=Single;DP=126;Gene=HRNR/NM_001009931.2/1;CC=c.7673C>T;ProtCh=p.S2558F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:126:104:0:0:32,1,92,1:868,10,2772,9:71.34,-0.24,0.00,-0.26:40.18,-0.30,0.00,-0.23:31.16,0.06,0.00,-0.02:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.99,0.00,0.00,0.00:27,25,27,25:74.0,112.0,24.4,9.0:0,0,0,0:0,0,0,0:59,40,57,96:92,109,90,22:44,0,38,0:NM_001009931.1(HRNR) c.7673C>T (p.Ser2558Phe),-:NOT_FOUND,-:NOT_FOUND,- 1 152186490 rs201463788 C T 107 lc VT=SNV;PN=C;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=C/0.8227,T/0.1773;NP=2;Gene=HRNR/NM_001009931.2/1;CC=c.7615G>A;ProtCh=p.G2539S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:167:159:0:0:1,122,2,42:11,3606,11,1274:-0.24,0.00,-0.57,106.95:-0.23,0.00,-0.56,92.23:-0.01,0.00,-0.01,14.72:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.87:27,27,24,27:119.0,19.8,77.5,65.6:0,0,0,0:0,0,0,0:112,56,105,60:39,94,44,90:0,27,20,34:-,NM_001009931.1(HRNR) c.7615G>A (p.Gly2539Ser):-,NOT_FOUND:-,NOT_FOUND 1 152186699 . T A 284 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1316;NP=243;PC=0.002;Gene=HRNR/NM_001009931.2/1;CC=c.7406A>T;ProtCh=p.Q2469L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:1316:994:0:0:123,4,1189:4023,44,39086:284.10,-1.37,0.00:239.16,-0.92,0.00:44.93,-0.45,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:41,25,42:76.3,44.8,15.6:0,0,2:0,0,0:23,23,69:127,128,82:16,10,29:NM_001009931.1(HRNR) c.7406A>T (p.Gln2469Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 152186766 rs4845747 G A 522 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1471;DB;DBA=NA;PAF=NA;NP=3023;Gene=HRNR/NM_001009931.2/1;CC=c.7339C>T;ProtCh=p.R2447C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1471:974:0:0:205,1,1260,5:6806,11,36896,84:521.73,-0.53,0.00,-0.17:352.22,-0.26,0.00,0.60:169.51,-0.27,0.00,-0.77:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:44,40,42,40:59.9,40.0,16.4,78.4:0,0,0,0:0,0,0,0:67,81,84,36:79,70,61,115:22,0,35,35:NM_001009931.1(HRNR) c.7339C>T (p.Arg2447Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 152187183 rs12126691 C A 354 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1184;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.6922G>T;ProtCh=p.G2308C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:1184:410:0:0:149,1033,2:4771,30263,24:354.47,0.00,-0.81:34.78,0.00,-0.17:319.69,0.00,-0.65:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,50,27:53.3,16.1,156.5:0,0,0:0,0,0:114,114,74:34,34,77:27,23,11:NM_001009931.1(HRNR) c.6922G>T (p.Gly2308Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 152187451 rs144369469 C T 367 lc VT=SNV;PN=C;NN=G;SST=Single;DP=571;DB;DBA=NA;PAF=NA;NP=44;Gene=HRNR/NM_001009931.2/1;CC=c.6654G>A;ProtCh=p.S2218=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:571:480:0:0:2,437,1,131:22,13203,34,4377:-0.49,0.00,0.83,367.19:-0.35,0.00,0.34,256.57:-0.13,0.00,0.49,110.62:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:24,42,41,42:98.0,21.3,272.0,50.7:0,0,0,0:0,0,0,0:71,62,39,55:70,86,98,96:0,21,0,18:-,NM_001009931.1(HRNR) c.6654G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 152187554 rs61814935 C T 778 lc VT=SNV;PN=G;NN=T;SST=Single;DP=731;DB;DBA=NA;PAF=NA;NP=2245;Gene=HRNR/NM_001009931.2/1;CC=c.6551G>A;ProtCh=p.S2184N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:731:533:0:0:2,446,1,282:23,14522,12,8550:-0.48,0.00,-0.18,778.40:-0.28,0.00,-0.11,371.11:-0.20,0.00,-0.07,407.29:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,51,36,43:123.5,49.7,38.0,78.5:0,0,0,0:0,0,0,0:81,50,140,55:69,98,11,95:24,32,0,30:-,NM_001009931.1(HRNR) c.6551G>A (p.Ser2184Asn):-,NOT_FOUND:-,NOT_FOUND 1 152187562 rs61814936 A C 2660 lc VT=SNV;PN=A;NN=T;SST=Single;DP=721;DB;DBA=NA;PAF=A/0.03934,C/0.9607,G/.,T/.;NP=1762;Gene=HRNR/NM_001009931.2/1;CC=c.6543T>G;ProtCh=p.H2181Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:721:520:0:0:2,714,3,2:20,23265,48,40:0.00,2660.20,1.18,1.29:0.00,1612.33,1.11,0.65:0.00,1047.87,0.07,0.64:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:43,43,42,51:163.0,63.0,144.3,40.5:0,0,0,0:0,0,0,0:12,51,36,40:138,99,89,100:8,28,7,17:NM_001009931.1(HRNR) c.6543T>G (p.His2181Gln),NM_001009931.1(HRNR) c.6543T>G (p.His2181Gln):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 152187606 rs139799138 G A 365 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1175;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.6499C>T;ProtCh=p.R2167C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:1175:830:0:0:153,3,1012,7:4878,22,30198,170:364.81,-1.26,0.00,4.00:153.69,-0.65,0.00,1.27:211.12,-0.61,0.00,2.73:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,27,51,43:77.5,74.7,31.7,97.0:0,0,0,0:0,0,0,0:53,84,36,21:85,67,108,48:35,9,21,8:NM_001009931.1(HRNR) c.6499C>T (p.Arg2167Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 152187810 rs145371085 G A 569 lc VT=SNV;PN=G;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HRNR/NM_001009931.2/1;CC=c.6295C>T;ProtCh=p.P2099S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:170:111:0:0:163,4,3:4980,38,35:568.80,0.73,0.00:402.99,0.00,0.00:165.80,0.73,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,51:41.7,35.5,177.3:0,0,0:0,0,0:51,109,62:99,36,89:28,21,28:NM_001009931.1(HRNR) c.6295C>T (p.Pro2099Ser),NM_001009931.1(HRNR) c.6295C>T (p.Pro2099Ser):0.62,0.62:NOT_FOUND,NOT_FOUND 1 152187935 rs61814938 C T 175 lc VT=SNV;PN=T;NN=G;SST=Single;DP=445;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.6170G>A;ProtCh=p.R2057Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:445:299:0:0:2,371,72:18,11654,2257:-0.58,0.00,174.89:-0.22,0.00,159.88:-0.36,0.00,15.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:25,41,41:99.5,18.6,75.8:0,0,0:0,0,0:76,88,20:74,62,126:41,27,10:-,NM_001009931.1(HRNR) c.6170G>A (p.Arg2057Gln):-,NOT_FOUND:-,NOT_FOUND 1 152187945 rs61814939 C T 228 lc VT=SNV;PN=C;NN=A;SST=Single;DP=473;DB;DBA=NA;PAF=NA;NP=584;Gene=HRNR/NM_001009931.2/1;CC=c.6160G>A;ProtCh=p.G2054S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:473:311:0:0:387,1,85:12566,8,2835:0.00,-0.32,227.51:0.00,-0.13,204.97:0.00,-0.19,22.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:41,25,41:15.6,69.0,69.8:0,0,0:0,0,0:82,141,25:65,10,118:29,0,12:-,NM_001009931.1(HRNR) c.6160G>A (p.Gly2054Ser):-,NOT_FOUND:-,NOT_FOUND 1 152188109 rs61814940 T A 525 lc VT=SNV;PN=C;NN=G;SST=Single;DP=861;DB;DBA=NA;PAF=NA;NP=2706;PC=0.020;Gene=HRNR/NM_001009931.2/1;CC=c.5996A>T;ProtCh=p.Q1999L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:861:642:0:0:198,2,3,658:6313,13,32,21512:524.88,-0.56,-0.72,0.00:253.89,-0.38,-0.57,0.00:270.99,-0.18,-0.15,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,42,40,44:55.7,124.5,64.7,17.3:0,0,0,0:0,0,0,0:91,82,109,38:55,69,33,112:20,68,19,25:NM_001009931.1(HRNR) c.5996A>T (p.Gln1999Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 152188118 . C T 220 lc VT=SNV;PN=G;NN=G;SST=Single;DP=949;NP=1;NP=201;Gene=HRNR/NM_001009931.2/1;CC=c.5987G>A;ProtCh=p.R1996H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:949:704:0:0:2,843,1,103:26,26655,10,3117:-0.64,0.00,-0.35,220.06:-0.45,0.00,-0.21,155.40:-0.19,0.00,-0.14,64.66:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:43,60,11,43:48.5,23.8,269.0,37.5:0,0,0,0:0,0,0,0:23,58,13,26:128,93,129,120:3,37,0,15:-,NM_001009931.1(HRNR) c.5987G>A (p.Arg1996His):-,NOT_FOUND:-,NOT_FOUND 1 152188176 rs147618491 G A 186 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1135;DB;DBA=NA;PAF=NA;NP=3033;Gene=HRNR/NM_001009931.2/1;CC=c.5929C>T;ProtCh=p.R1977C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:A,C,G,T:1135:880:0:0:88,3,1041,3:2779,19,30610,67:186.38,-1.31,0.00,0.36:91.53,-0.84,0.00,-0.09:94.86,-0.47,0.00,0.45:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:44,27,60,60:78.3,102.3,16.6,168.7:0,0,0,0:0,0,0,0:130,100,61,99:20,51,85,19:13,8,27,42:NM_001009931.1(HRNR) c.5929C>T (p.Arg1977Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 152188463 rs61814941 G A 693 lc VT=SNV;PN=G;NN=A;SST=Single;DP=1208;DB;DBA=NA;PAF=NA;PC=0.022;Gene=HRNR/NM_001009931.2/1;CC=c.5642C>T;ProtCh=p.S1881F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:1208:798:0:0:277,2,929:8423,24,29396:692.56,-0.73,0.00:335.08,-0.40,0.00:357.48,-0.33,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,52,60:44.3,111.5,16.1:0,0,0:0,0,0:81,56,69:65,86,78:39,43,39:NM_001009931.1(HRNR) c.5642C>T (p.Ser1881Phe),-:NOT_FOUND,-:0.129389,- 1 152188847 rs145667921 A G 312 lc VT=SNV;PN=G;NN=C;SST=Single;DP=932;DB;DBA=NA;PAF=NA;NP=89;Gene=HRNR/NM_001009931.2/1;CC=c.5258T>C;ProtCh=p.V1753A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:932:748:0:0:784,14,132,2:24356,197,4128,22:0.00,0.70,312.17,-0.62:0.00,-1.95,224.61,-0.49:0.00,2.65,87.56,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:41,41,41,40:17.1,107.2,69.5,113.0:0,0,0,0:0,0,0,0:45,45,35,26:105,106,115,122:30,19,24,2:-,NM_001009931.1(HRNR) c.5258T>C (p.Val1753Ala):-,NOT_FOUND:-,NOT_FOUND 1 152188920 rs61814942 C T 1036 lc VT=SNV;PN=C;NN=G;SST=Single;DP=1276;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.5185G>A;ProtCh=p.G1729S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:1276:826:0:0:3,905,5,363:46,27270,66,11915:-0.45,0.00,-0.56,1035.60:-0.37,0.00,-0.72,476.20:-0.08,0.00,0.16,559.41:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:27,43,27,50:90.3,22.7,119.4,56.6:0,0,0,0:0,0,0,0:95,76,81,79:56,74,70,70:11,26,39,27:-,NM_001009931.1(HRNR) c.5185G>A (p.Gly1729Ser):-,NOT_FOUND:-,NOT_FOUND 1 152188998 rs80018286 C T 362 lc VT=SNV;PN=C;NN=G;SST=Single;DP=952;DB;DBA=NA;PAF=NA;NP=2353;Gene=HRNR/NM_001009931.2/1;CC=c.5107G>A;ProtCh=p.G1703S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:952:311:0:0:1,805,146:14,23466,4686:-0.32,0.00,361.74:-0.08,0.00,53.82:-0.24,0.00,307.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:24,53,42:143.0,37.8,52.5:0,0,0:0,0,0:70,105,109:81,45,41:0,25,23:-,NM_001009931.1(HRNR) c.5107G>A (p.Gly1703Ser):-,NOT_FOUND:-,NOT_FOUND 1 152189038 rs145118416 A G 230 lc VT=SNV;PN=C;NN=T;SST=Single;DP=588;DB;DBA=NA;PAF=NA;Gene=HRNR/NM_001009931.2/1;CC=c.5067T>C;ProtCh=p.Y1689=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:588:174:0:0:488,4,96:15052,43,2975:0.00,-1.11,230.36:0.00,-0.25,35.23:0.00,-0.87,195.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,24,53:44.6,95.8,68.1:0,0,0:0,0,0:122,73,125:23,76,23:18,42,19:-,NM_001009931.1(HRNR) c.5067T>C (p.(=)):-,NOT_FOUND:-,0.070327 1 152189055 rs4845749 G C 1405 lc VT=SNV;PN=C;NN=T;SST=Single;DP=398;DB;DBA=NA;PAF=NA;NP=14;Gene=HRNR/NM_001009931.2/1;CC=c.5050C>G;ProtCh=p.R1684G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:398:44:0:0:1,384,11,2:10,12383,79,28:0.02,1404.60,0.00,0.25:-0.01,70.09,0.00,0.26:0.03,1334.51,0.00,-0.01:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:24,42,53,25:19.0,56.3,113.3,32.5:0,0,0,0:0,0,0,0:34,119,74,82:117,30,76,64:0,24,26,46:NM_001009931.1(HRNR) c.5050C>G (p.Arg1684Gly),NM_001009931.1(HRNR) c.5050C>G (p.Arg1684Gly):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 152189235 . T G 18 lc VT=SNV;PN=C;NN=G;SST=Single;DP=60;Gene=HRNR/NM_001009931.2/1;CC=c.4870A>C;ProtCh=p.S1624R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:C,G,T:60:0:0:0:1,12,47:5,249,1336:-0.31,17.78,0.00:0.00,0.00,0.00:-0.31,17.78,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:19,25,40:72.0,68.6,39.0:0,0,0:0,0,0:69,31,117:82,110,29:0,16,18:NM_001009931.1(HRNR) c.4870A>C (p.Ser1624Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 152189310 . C T 18 lc VT=SNV;PN=C;NN=G;SST=Single;DP=42;NP=1;Gene=HRNR/NM_001009931.2/1;CC=c.4795G>A;ProtCh=p.G1599S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:42:0:0:0:34,8:832,229:0.00,17.91:0.00,0.00:0.00,17.91:0.00,0.97:0.00,0.00:0.00,0.97:40,25:31.1,79.6:0,0:0,0:77,89:73,56:35,15:-,NM_001009931.1(HRNR) c.4795G>A (p.Gly1599Ser):-,NOT_FOUND:-,NOT_FOUND 1 152190382 . A C 11 end;mq,lc VT=SNV;PN=A;NN=T;SST=Single;DP=6;NP=3;Gene=HRNR/NM_001009931.2/1;CC=c.3723T>G;ProtCh=p.H1241Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,C,T:6:2:0:0:1,4,1:18,103,10:0.00,10.97,0.65:0.00,4.54,0.00:0.00,6.43,0.65:0.00,0.93,0.00:0.00,0.91,0.00:0.00,0.99,0.00:24,18,24:95.0,41.2,87.0:0,0,0:0,0,0:106,148,45:40,2,105:0,1,0:-,NM_001009931.1(HRNR) c.3723T>G (p.His1241Gln):-,NOT_FOUND:-,NOT_FOUND 1 152190452 rs140247939 T C 32 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=44;Gene=HRNR/NM_001009931.2/1;CC=c.3653A>G;ProtCh=p.H1218R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:33:10:0:0:13,1,19:348,13,487:31.55,0.18,0.00:31.91,0.00,0.00:-0.37,0.18,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:37,24,24:90.6,63.0,21.5:0,0,0:0,0,0:23,23,35:119,128,116:19,0,17:NM_001009931.1(HRNR) c.3653A>G (p.His1218Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 152190682 rs71625163 G A 247 lc VT=SNV;PN=C;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=G/0.6322,A/0.3678;NP=709;Gene=HRNR/NM_001009931.2/1;CC=c.3423C>T;ProtCh=p.Y1141=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:148:147:0:0:79,1,68:2533,7,1866:247.03,-0.17,0.00:247.36,-0.17,0.00:-0.33,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.69,0.00,0.00:40,40,40:40.8,7.0,41.0:0,0,0:0,0,0:55,150,49:96,1,102:32,0,26:NM_001009931.1(HRNR) c.3423C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152190720 rs7514457 C T 278 lc VT=SNV;PN=C;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=C/0.4587,T/0.5413;NP=2515;Gene=HRNR/NM_001009931.2/1;CC=c.3385G>A;ProtCh=p.G1129S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:187:186:0:0:99,88:2963,2923:0.00,278.14:0.00,274.63:0.00,3.51:0.00,1.00:0.00,1.00:0.00,0.77:40,40:33.9,42.3:0,0:0,0:64,53:87,92:32,29:-,NM_001009931.1(HRNR) c.3385G>A (p.Gly1129Ser):-,NOT_FOUND:-,NOT_FOUND 1 152191687 rs34625286 A G 209 lc VT=SNV;PN=A;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.9744,G/0.02556;Gene=HRNR/NM_001009931.2/1;CC=c.2418T>C;ProtCh=p.H806=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:156:107:0:0:86,2,68:2684,22,2223:0.00,-0.17,208.82:0.00,-0.09,114.09:0.00,-0.08,94.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:39.3,49.0,75.7:0,0,0:0,0,0:65,104,66:76,46,74:42,40,40:-,NM_001009931.1(HRNR) c.2418T>C (p.(=)):-,0.02:-,0.017761 1 152191696 rs34188717 G C 203 lc VT=SNV;PN=A;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.9748,A/.,C/0.02516;Gene=HRNR/NM_001009931.2/1;CC=c.2409C>G;ProtCh=p.S803R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:149:108:0:0:67,82:2152,2708:202.58,0.00:117.95,0.00:84.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.6,42.3:0,0:0,0:71,70:77,77:40,36:NM_001009931.1(HRNR) c.2409C>G (p.Ser803Arg),-:0.02,-:0.017684,- 1 152191709 rs6662450 C G 263 lc VT=SNV;PN=A;NN=T;SST=Single;DP=152;DB;DBA=NA;PAF=C/0.4683,A/.,G/0.5317;Gene=HRNR/NM_001009931.2/1;CC=c.2396G>C;ProtCh=p.S799T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:152:112:0:0:71,81:2371,2697:0.00,262.69:0.00,155.50:0.00,107.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:69.2,41.2:0,0:0,0:70,74:71,69:40,36:-,NM_001009931.1(HRNR) c.2396G>C (p.Ser799Thr):-,0.59:-,0.726357 1 152191879 rs10788828 G A 342 lc VT=SNV;PN=C;NN=T;SST=Single;DP=238;DB;DBA=NA;PAF=G/0.4399,A/0.5601;Gene=HRNR/NM_001009931.2/1;CC=c.2226C>T;ProtCh=p.H742=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:238:168:0:0:113,125:3592,3940:341.60,0.00:189.23,0.00:152.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,10.6:0,0:0,0:74,52:72,95:35,29:NM_001009931.1(HRNR) c.2226C>T (p.(=)),-:0.61,-:0.748885,- 1 152192114 rs7520249 C T 614 lc VT=SNV;PN=T;NN=G;SST=Single;DP=494;DB;DBA=NA;PAF=C/0.4405,T/0.5595;Gene=HRNR/NM_001009931.2/1;CC=c.1991G>A;ProtCh=p.R664Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:494:368:0:0:4,282,1,207:41,8880,8,6602:-0.61,0.00,-0.23,614.24:-0.35,0.00,-0.13,350.77:-0.26,0.00,-0.10,263.47:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:90.0,27.6,18.0,45.6:0,0,0,0:0,0,0,0:91,65,57,59:55,82,92,85:19,38,0,33:-,NM_001009931.1(HRNR) c.1991G>A (p.Arg664Gln):-,0.61:-,NOT_FOUND 1 152192163 rs61814943 G T 111 lc VT=SNV;PN=C;NN=A;SST=Single;DP=506;DB;DBA=NA;PAF=NA;NP=186;Gene=HRNR/NM_001009931.2/1;CC=c.1942C>A;ProtCh=p.R648S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:506:352:0:0:1,3,451,51:11,64,14176,1581:-0.36,0.91,0.00,111.38:-0.20,1.41,0.00,59.90:-0.16,-0.50,0.00,51.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,60,60,60:152.0,172.0,22.3,99.9:0,0,0,0:0,0,0,0:9,66,67,61:142,84,81,88:0,8,33,7:-,NM_001009931.1(HRNR) c.1942C>A (p.Arg648Ser):-,NOT_FOUND:-,NOT_FOUND 1 152192219 rs79513582 G C 128 lc VT=SNV;PN=G;NN=T;SST=Single;DP=497;DB;DBA=NA;PAF=NA;NP=64;Gene=HRNR/NM_001009931.2/1;CC=c.1886C>G;ProtCh=p.T629S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:497:312:0:0:52,445:1749,14059:127.52,0.00:63.40,0.00:64.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:94.7,23.6:0,0:0,0:115,76:35,74:6,38:NM_001009931.1(HRNR) c.1886C>G (p.Thr629Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 152192293 rs7520375 C T 666 lc VT=SNV;PN=C;NN=G;SST=Single;DP=430;DB;DBA=NA;PAF=C/0.4509,T/0.5491;Gene=HRNR/NM_001009931.2/1;CC=c.1812G>A;ProtCh=p.S604=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:430:282:0:0:2,217,211:25,6624,6935:-0.27,0.00,665.51:-0.18,0.00,357.24:-0.09,0.00,308.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:99.0,27.8,43.3:0,0,0:0,0,0:53,78,78:93,69,69:44,37,39:-,NM_001009931.1(HRNR) c.1812G>A (p.(=)):-,0.53:-,0.74092 1 152192347 . G A 674 lc VT=SNV;PN=G;NN=T;SST=Single;DP=456;Gene=HRNR/NM_001009931.2/1;CC=c.1758C>T;ProtCh=p.H586=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:456:306:0:0:220,1,234,1:7057,14,7392,10:673.97,-0.15,0.00,-0.18:371.88,-0.11,0.00,-0.11:302.09,-0.04,0.00,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:41.2,52.0,30.2,121.0:0,0,0,0:0,0,0,0:70,2,62,123:75,147,85,-1:30,0,34,0:NM_001009931.1(HRNR) c.1758C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152192631 rs6587647 C T 533 lc VT=SNV;PN=C;NN=G;SST=Single;DP=394;DB;DBA=NA;PAF=C/0.4401,T/0.5599;Gene=HRNR/NM_001009931.2/1;CC=c.1474G>A;ProtCh=p.G492R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:394:217:0:0:1,218,1,174:11,6695,7,5672:-0.24,0.00,-0.27,533.23:-0.08,0.00,-0.13,207.32:-0.16,0.00,-0.14,325.91:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:136.0,29.6,115.0,61.5:0,0,0,0:0,0,0,0:51,81,28,81:99,63,123,65:0,35,0,35:-,NM_001009931.1(HRNR) c.1474G>A (p.Gly492Arg):-,0.61:-,0.748962 1 152192687 rs6587648 T C 1256 lc VT=SNV;PN=C;NN=C;SST=Single;DP=351;DB;DBA=NA;PAF=T/0.05751,C/0.9425;Gene=HRNR/NM_001009931.2/1;CC=c.1418A>G;ProtCh=p.E473G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:351:192:0:0:348,2,1:10936,15,10:1256.40,0.07,0.00:526.94,0.01,0.00:729.45,0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:51.5,64.5,87.0:0,0,0:0,0,0:82,92,44:62,57,64:37,17,0:NM_001009931.1(HRNR) c.1418A>G (p.Glu473Gly),NM_001009931.1(HRNR) c.1418A>G (p.Glu473Gly):0.96,0.96:0.950331,0.950331 1 152192825 rs6666097 C T 337 lc VT=SNV;PN=G;NN=C;SST=Single;DP=286;DB;DBA=NA;PAF=C/0.6546,T/0.3454;Gene=HRNR/NM_001009931.2/1;CC=c.1280G>A;ProtCh=p.G427D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:286:174:0:0:1,166,119:13,5424,3641:-0.15,0.00,336.69:-0.03,0.00,140.98:-0.12,0.00,195.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:76.0,11.7,43.9:0,0,0:0,0,0:56,81,66:95,62,79:0,28,35:-,NM_001009931.1(HRNR) c.1280G>A (p.Gly427Asp):-,0.4:-,0.478856 1 152192978 rs6587649 T C 686 lc VT=SNV;PN=T;NN=G;SST=Single;DP=196;DB;DBA=NA;PAF=T/0.05771,C/0.9423;Gene=HRNR/NM_001009931.2/1;CC=c.1127A>G;ProtCh=p.Q376R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:196:110:0:0:193,1,2:5986,10,38:685.63,0.05,0.00:338.91,0.05,0.00:346.72,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:55.1,120.0,147.0:0,0,0:0,0,0:85,80,60:63,68,66:40,0,29:NM_001009931.1(HRNR) c.1127A>G (p.Gln376Arg),NM_001009931.1(HRNR) c.1127A>G (p.Gln376Arg):0.96,0.96:0.950331,0.950331 1 152193052 rs6587650 A G 619 lc VT=SNV;PN=C;NN=T;SST=Single;DP=179;DB;DBA=NA;PAF=A/0.08526,C/.,G/0.9147;Gene=HRNR/NM_001009931.2/1;CC=c.1053T>C;ProtCh=p.H351=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:179:126:0:0:1,177,1:8,5373,34:0.00,619.20,1.66:0.00,351.62,0.00:0.00,267.58,1.66:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:79.0,71.9,95.0:0,0,0:0,0,0:58,64,76:93,85,74:0,31,0:NM_001009931.1(HRNR) c.1053T>C (p.(=)),NM_001009931.1(HRNR) c.1053T>C (p.(=)):0.93,0.93:0.917038,0.917038 1 152193121 rs6587651 G T 322 lc VT=SNV;PN=A;NN=C;SST=Single;DP=231;DB;DBA=NA;PAF=G/0.4507,T/0.5493;Gene=HRNR/NM_001009931.2/1;CC=c.984C>A;ProtCh=p.G328=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:231:163:0:0:1,121,109:11,3778,3397:-0.16,0.00,322.48:-0.13,0.00,171.84:-0.03,0.00,150.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.0,54.1,58.5:0,0,0:0,0,0:3,67,70:147,81,75:0,37,41:-,NM_001009931.1(HRNR) c.984C>A (p.(=)):-,0.61:-,0.748578 1 152193162 rs41266136 C T 426 lc VT=SNV;PN=C;NN=G;SST=Single;DP=247;DB;DBA=NA;PAF=C/0.9742,T/0.02576;Gene=HRNR/NM_001009931.2/1;CC=c.943G>A;ProtCh=p.G315S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:247:178:0:0:112,135:3377,4352:0.00,425.57:0.00,280.44:0.00,145.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.8,51.3:0,0:0,0:70,71:77,79:34,38:-,NM_001009931.1(HRNR) c.943G>A (p.Gly315Ser):-,0.02:-,0.017992 1 152193286 rs7545406 G T 389 lc VT=SNV;PN=T;NN=T;SST=Single;DP=348;DB;DBA=NA;PAF=G/0.6542,T/0.3458;Gene=HRNR/NM_001009931.2/1;CC=c.819C>A;ProtCh=p.H273Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:348:239:0:0:211,137:6855,4250:0.00,389.00:0.00,202.19:0.00,186.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,71.5:0,0:0,0:70,82:69,66:31,32:-,NM_001009931.1(HRNR) c.819C>A (p.His273Gln):-,0.4:-,0.480086 1 152193291 rs6587652 G T 415 lc VT=SNV;PN=C;NN=T;SST=Single;DP=349;DB;DBA=NA;PAF=G/0.4399,T/0.5601;Gene=HRNR/NM_001009931.2/1;CC=c.814C>A;ProtCh=p.R272=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:349:239:0:0:2,209,138:20,6663,4500:-0.42,0.00,414.51:-0.27,0.00,230.48:-0.15,0.00,184.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:131.0,8.1,74.1:0,0,0:0,0,0:70,64,89:81,81,61:7,31,31:-,NM_001009931.1(HRNR) c.814C>A (p.(=)):-,0.61:-,0.748808 1 152193544 rs7535536 A G 243 lc VT=SNV;PN=G;NN=T;SST=Single;DP=157;DB;DBA=NA;PAF=A/0.4681,G/0.5319;Gene=HRNR/NM_001009931.2/1;CC=c.561T>C;ProtCh=p.H187=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:157:62:0:0:80,77:2388,2533:0.00,242.89:0.00,74.56:0.00,168.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:56.5,73.2:0,0:0,0:87,90:59,58:39,38:-,NM_001009931.1(HRNR) c.561T>C (p.(=)):-,0.59:-,0.726511 1 152193547 rs6587653 G A 573 lc VT=SNV;PN=G;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=G/0.05771,A/0.9423;Gene=HRNR/NM_001009931.2/1;CC=c.558C>T;ProtCh=p.S186=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:155:61:0:0:153,1,1:5009,5,11:572.74,0.01,0.08:169.79,0.00,0.00:402.94,0.01,0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:66.1,147.0,120.0:0,0,0:0,0,0:86,43,79:62,107,72:39,0,0:NM_001009931.1(HRNR) c.558C>T (p.(=)),NM_001009931.1(HRNR) c.558C>T (p.(=)):0.96,0.96:0.950331,0.950331 1 152193605 rs12741518 C T 184 lc VT=SNV;PN=G;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=C/0.9748,T/0.02516;Gene=HRNR/NM_001009931.2/1;CC=c.500G>A;ProtCh=p.G167D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:134:63:0:0:71,63:2313,1945:0.00,184.29:0.00,70.19:0.00,114.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.8,64.9:0,0:0,0:77,88:71,59:32,36:-,NM_001009931.1(HRNR) c.500G>A (p.Gly167Asp):-,0.02:-,0.017607 1 152193851 rs11204937 C T 108 lc VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.4675,T/0.5325;PC=1.000;Gene=HRNR/NM_001009931.2/1;CC=c.254G>A;ProtCh=p.R85H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:87:41:0:0:51,36:1486,1167:0.00,108.31:0.00,35.92:0.00,72.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,38.2:0,0:0,0:81,79:58,71:36,33:-,NM_001009931.1(HRNR) c.254G>A (p.Arg85His):-,0.59:-,0.726511 1 152193967 . C . . NT END=152195591;NT GT ./. 1 152193990 rs11204938 A G 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.4681,C/.,G/0.5319;Gene=HRNR/NM_001009931.2/1;CC=c.139-24T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:39:17:0:0:24,14,1:842,438,11:0.00,39.61,-0.00:0.00,7.99,-0.08:0.00,31.62,0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:2.8,41.9,11.0:0,0,0:0,0,0:88,101,123:49,49,26:26,28,0:-,NM_001009931.1(HRNR) c.139-24T>C:-,0.59:-,0.726181 1 152195579 rs74127901 G A 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.6693,A/0.3307;Gene=HRNR/NM_001009931.2/1;CC=c.138+13C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:36:0:0:21,25:686,773:64.90,0.00:34.26,0.00:30.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,8.2:0,0:0,0:41,41:110,105:27,25:NM_001009931.1(HRNR) c.138+13C>T,-:0.3,-:0.143165,- 1 152195728 rs530205886 AT A 156 rn VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=318;PC=0.989;Gene=HRNR/NM_001009931.2/1;CC=c.1delA;ProtCh=p.M1Cfs*28;VC=FrameShiftDel;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:AT,I,A:52:29:1:47:5,1,46:154,31,1445:0.00,1.82,155.87:0.00,-0.02,55.64:0.00,1.84,100.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:0.0,0.0,18.4:0,0,1:0,0,0:139,47,89:10,104,60:1,0,21:-,NM_001009931.1(HRNR) c.-10_1delAAAAAAAAAAAinsAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 152195730 . T . . NT END=152275175;NT GT ./. 1 152195851 rs71582220 TAGTC T 10 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TAGTC/0.4716,T/0.5284;DB;DBA=NA;PAF=TAGTC/0.4716,T/0.5284;NP=981;Gene=HRNR/NM_001009931.2/1;CC=c.-25-101_-25-98delGACT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:TAGTC,T:12:2:0:4:8,4:248,118:0.00,10.39:0.00,-0.26:0.00,10.65:0.00,0.80:0.00,0.63:0.00,0.98:60,60:3.0,26.0:0,0:0,0:97,59:53,91:47,32:-,NM_001009931.1(HRNR) c.-25-101_-25-98delGACT:-,0.59:-,NOT_FOUND 1 152276377 rs139284720 C G 240 lc VT=SNV;PN=A;NN=T;SST=Single;DP=653;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.10985G>C;ProtCh=p.S3662T;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:653:400:0:0:1,556,94,2:9,18134,3116,18:-0.47,0.00,240.00,-0.67:-0.23,0.00,190.86,-0.30:-0.23,0.00,49.14,-0.38:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,58,43,27:49.0,9.9,68.7,57.0:0,0,0,0:0,0,0,0:104,67,55,100:47,81,96,50:0,41,33,17:-,NM_002016.1(FLG) c.10985G>C (p.Ser3662Thr):-,NOT_FOUND:-,NOT_FOUND 1 152276459 rs75448155 C T 359 lc VT=SNV;PN=T;NN=T;SST=Single;DP=741;DB;DBA=NA;PAF=NA;NP=1135;PC=0.006;Gene=FLG/NM_002016.1/1;CC=c.10903G>A;ProtCh=p.D3635N;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:741:430:0:0:3,598,1,139:24,19928,11,4472:-0.96,0.00,-0.25,358.72:-0.42,0.00,-0.09,111.90:-0.55,0.00,-0.15,246.82:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:42,60,27,44:52.0,12.0,46.0,55.4:0,0,0,0:0,0,0,0:72,74,119,67:79,74,32,78:12,34,0,29:-,NM_002016.1(FLG) c.10903G>A (p.Asp3635Asn):-,NOT_FOUND:-,0.077095 1 152276583 rs12083389 C G 302 lc VT=SNV;PN=T;NN=T;SST=Single;DP=429;DB;DBA=NA;PAF=C/0.6386,G/0.3614;PC=0.002;Gene=FLG/NM_002016.1/1;CC=c.10779G>C;ProtCh=p.E3593D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,I:429:242:1:0:315,113,1:10482,3558,11:0.00,302.46,-0.25:0.00,128.87,-0.13:0.00,173.60,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,57:12.3,86.5,149.0:0,0,1:0,0,0:80,106,87:70,45,59:39,36,0:-,NM_002016.1(FLG) c.10779G>C (p.Glu3593Asp):-,0.28:-,0.149669 1 152276598 rs12742178 G A 285 lc VT=SNV;PN=C;NN=T;SST=Single;DP=400;DB;DBA=NA;PAF=G/0.9113,A/0.08866;Gene=FLG/NM_002016.1/1;CC=c.10764C>T;ProtCh=p.H3588=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:400:228:0:0:112,2,286:3340,22,9022:284.76,-0.48,0.00:90.89,-0.23,0.00:193.86,-0.25,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,40,60:93.5,107.0,9.4:0,0,0:0,0,0:111,77,69:39,59,75:36,37,35:NM_002016.1(FLG) c.10764C>T (p.(=)),-:0.12,-:NOT_FOUND,- 1 152276626 rs3126075 G C 223 lc VT=SNV;PN=C;NN=T;SST=Single;DP=366;DB;DBA=NA;PAF=G/0.5222,A/.,C/0.4778;Gene=FLG/NM_002016.1/1;CC=c.10736C>G;ProtCh=p.T3579R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:366:226:0:0:1,89,276:24,2687,8678:0.15,223.25,0.00:-0.18,73.11,0.00:0.33,150.14,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:3,40,60:140.0,106.4,8.5:0,0,0:0,0,0:67,48,71:84,100,72:0,32,36:NM_002016.1(FLG) c.10736C>G (p.Thr3579Arg),-:0.28,-:0.097625,- 1 152276699 rs12728605 A G 247 lc VT=SNV;PN=C;NN=C;SST=Single;DP=327;DB;DBA=NA;PAF=NA;NP=1313;Gene=FLG/NM_002016.1/1;CC=c.10663T>C;ProtCh=p.W3555R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:327:155:0:0:232,2,92,1:7281,25,2873,12:0.00,-0.37,247.24,-0.25:0.00,-0.11,18.09,-0.13:0.00,-0.26,229.14,-0.12:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,57,60,49:8.5,65.0,118.3,112.0:0,0,0,0:0,0,0,0:88,103,84,62:61,47,61,87:31,35,21,0:-,NM_002016.1(FLG) c.10663T>C (p.Trp3555Arg):-,NOT_FOUND:-,NOT_FOUND 1 152276761 rs567405841 T C 84 lc VT=SNV;PN=G;NN=T;SST=Single;DP=234;DB;DBA=NA;PAF=T/0.9954,C/0.004593;NP=6;Gene=FLG/NM_002016.1/1;CC=c.10601A>G;ProtCh=p.N3534S;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:234:106:0:0:34,1,199:1096,10,6182:83.90,-0.30,0.00:4.45,-0.09,0.00:79.45,-0.21,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,59,60:153.8,78.0,10.6:0,0,0:0,0,0:124,112,80:22,39,67:12,0,39:NM_002016.1(FLG) c.10601A>G (p.Asn3534Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 152276762 rs12732870 T A 71 lc VT=SNV;PN=T;NN=C;SST=Single;DP=236;DB;DBA=NA;PAF=NA;NP=1;NP=2;Gene=FLG/NM_002016.1/1;CC=c.10600A>T;ProtCh=p.N3534Y;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:236:106:0:0:33,1,202:961,10,6288:70.61,-0.31,0.00:5.02,-0.14,0.00:65.59,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,40,60:152.7,189.0,11.1:0,0,0:0,0,0:125,141,84:23,9,65:12,0,38:NM_002016.1(FLG) c.10600A>T (p.Asn3534Tyr),-:NOT_FOUND,-:NOT_FOUND,- 1 152276777 rs12746216 G A 46 sb,lc VT=SNV;PN=G;NN=C;SST=Single;DP=222;DB;DBA=NA;PAF=G/0.973,A/0.02696;Gene=FLG/NM_002016.1/1;CC=c.10585C>T;ProtCh=p.P3529S;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,C,G,T:222:104:0:0:23,1,197,1:671,9,6327,10:46.20,-0.39,0.00,-0.38:0.83,-0.18,0.00,-0.18:45.37,-0.21,0.00,-0.20:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,6,60,56:167.4,163.0,10.8,95.0:0,0,0,0:0,0,0,0:130,41,75,128:17,73,74,21:10,0,38,0:NM_002016.1(FLG) c.10585C>T (p.Pro3529Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 152276782 rs12746218 G T 38 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=215;DB;DBA=NA;PAF=G/0.9896,A/.,T/0.01038;NP=3;Gene=FLG/NM_002016.1/1;CC=c.10580C>A;ProtCh=p.A3527E;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:G,T:215:103:0:0:198,17:6197,557:0.00,38.04:0.00,-2.90:0.00,40.93:0.00,1.00:0.00,1.00:0.00,1.00:60,40:11.8,180.9:0,0:0,0:72,132:76,15:41,7:-,NM_002016.1(FLG) c.10580C>A (p.Ala3527Glu):-,NOT_FOUND:-,NOT_FOUND 1 152277014 rs201292665 A G 57 sb,lc VT=SNV;PN=T;NN=G;SST=Single;DP=321;DB;DBA=NA;PAF=NA;NP=4;Gene=FLG/NM_002016.1/1;CC=c.10348T>C;ProtCh=p.Y3450H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:A,G:321:240:0:0:296,25:9636,833:0.00,57.24:0.00,62.36:0.00,-5.11:0.00,1.00:0.00,1.00:0.00,1.00:60,40:8.5,186.4:0,0:0,0:66,60:82,88:37,33:-,NM_002016.1(FLG) c.10348T>C (p.Tyr3450His):-,NOT_FOUND:-,NOT_FOUND 1 152277168 rs3091276 A G 148 lc VT=SNV;PN=C;NN=G;SST=Single;DP=362;DB;DBA=NA;PAF=A/0.5264,G/0.4736;Gene=FLG/NM_002016.1/1;CC=c.10194T>C;ProtCh=p.S3398=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:362:252:0:0:296,66:9651,1908:0.00,147.78:0.00,106.59:0.00,41.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,60.2:0,0:0,0:71,15:79,121:37,11:-,NM_002016.1(FLG) c.10194T>C (p.(=)):-,0.4:-,0.262729 1 152277396 rs6681433 T C 639 lc VT=SNV;PN=C;NN=T;SST=Single;DP=481;DB;DBA=NA;PAF=T/0.6589,C/0.3411;Gene=FLG/NM_002016.1/1;CC=c.9966A>G;ProtCh=p.Q3322=;VC=Silent;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:481:274:0:0:1,209,1,270:26,6818,7,8852:0.29,638.93,-0.23,0.00:-0.10,297.40,-0.10,0.00:0.40,341.54,-0.12,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,27,60:98.0,45.0,47.0,5.9:0,0,0,0:0,0,0,0:136,63,26,74:15,82,112,74:0,32,0,40:NM_002016.1(FLG) c.9966A>G (p.(=)),-:0.31,-:0.156005,- 1 152277554 rs35621145 G A 790 lc VT=SNV;PN=C;NN=G;SST=Single;DP=542;DB;DBA=NA;PAF=G/0.975,A/0.02496,T/.;Gene=FLG/NM_002016.1/1;CC=c.9808C>T;ProtCh=p.R3270C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:542:363:0:0:253,1,287,1:8313,5,8444,12:790.34,-0.24,0.00,-0.21:395.67,-0.12,0.00,-0.12:394.67,-0.12,0.00,-0.09:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,46,60,52:40.9,75.0,14.1,96.0:0,0,0,0:0,0,0,0:73,88,72,20:74,46,77,126:35,0,34,0:NM_002016.1(FLG) c.9808C>T (p.Arg3270Cys),-:0.02,-:0.01753,- 1 152277717 rs9436066 C A 366 lc VT=SNV;PN=T;NN=A;SST=Single;DP=327;DB;DBA=NA;PAF=C/0.5304,A/0.4696,T/.;Gene=FLG/NM_002016.1/1;CC=c.9645G>T;ProtCh=p.V3215=;VC=Silent;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:327:156:0:0:134,193:3984,6386:365.97,0.00:99.84,0.00:266.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:46.3,9.0:0,0:0,0:93,83:56,66:30,35:NM_002016.1(FLG) c.9645G>T (p.(=)),-:0.41,-:0.251771,- 1 152277822 rs3126069 T C 110 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=237;DB;DBA=NA;PAF=T/0.7762,C/0.2238,G/.;Gene=FLG/NM_002016.1/1;CC=c.9540A>G;ProtCh=p.S3180=;VC=Silent;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:237:117:0:0:52,185:1395,5886:110.29,0.00:-9.41,0.00:119.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:77.7,9.8:0,2:0,0:103,71:48,74:29,35:NM_002016.1(FLG) c.9540A>G (p.(=)),-:0.22,-:NOT_FOUND,- 1 152277826 rs2065957 A C 126 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=242;DB;DBA=NA;PAF=A/0.6064,C/0.3936,T/.;Gene=FLG/NM_002016.1/1;CC=c.9536T>G;ProtCh=p.V3179G;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:242:120:0:0:190,51,1:5914,1553,8:0.00,125.70,-0.31:0.00,-1.28,-0.17:0.00,126.98,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,40,40:10.1,77.8,37.0:0,2,0:0,0,0:75,99,93:70,51,58:38,35,0:-,NM_002016.1(FLG) c.9536T>G (p.Val3179Gly):-,0.32:-,0.148844 1 152278484 rs61690342 C T 259 lc VT=SNV;PN=C;NN=A;SST=Single;DP=293;DB;DBA=NA;PAF=NA;NP=1;NP=147;Gene=FLG/NM_002016.1/1;CC=c.8878G>A;ProtCh=p.G2960S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:293:287:0:0:202,1,90:6043,5,2940:0.00,-0.26,258.65:0.00,-0.25,259.59:0.00,-0.01,-0.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.87:40,15,40:22.9,167.0,44.0:0,0,0:0,0,0:57,104,53:92,47,96:32,0,35:-,NM_002016.1(FLG) c.8878G>A (p.Gly2960Ser):-,NOT_FOUND:-,0.027396 1 152278555 rs80221306 T C 408 lc VT=SNV;PN=G;NN=C;SST=Single;DP=441;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.8807A>G;ProtCh=p.D2936G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:441:372:0:0:139,2,300:4604,19,9099:407.75,-0.56,0.00:300.56,-0.39,0.00:107.19,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:55,40,60:46.9,43.0,16.7:0,0,0:0,0,0:59,89,41:92,61,110:40,30,27:NM_002016.1(FLG) c.8807A>G (p.Asp2936Gly),-:NOT_FOUND,-:0.089428,- 1 152278689 rs57672167 C A 1691 lc VT=SNV;PN=T;NN=A;SST=Single;DP=780;DB;DBA=NA;PAF=C/0.6036,A/0.3964,T/.;Gene=FLG/NM_002016.1/1;CC=c.8673G>T;ProtCh=p.V2891=;VC=Silent;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:780:456:0:0:536,243,1:16461,8027,34:1691.05,0.00,0.83:798.08,0.00,-0.05:892.96,0.00,0.87:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,51:42.4,10.2,34.0:0,0,0:0,0,0:79,88,25:70,59,126:39,35,0:NM_002016.1(FLG) c.8673G>T (p.(=)),-:0.37,-:0.180231,- 1 152278814 rs2184952 C T 403 lc VT=SNV;PN=C;NN=G;SST=Single;DP=849;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.8548G>A;ProtCh=p.G2850S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:849:565:0:0:695,154:20700,5036:0.00,402.93:0.00,284.74:0.00,118.19:0.00,1.00:0.00,1.00:0.00,1.00:60,44:14.7,51.3:0,0:0,0:79,79:68,66:39,34:-,NM_002016.1(FLG) c.8548G>A (p.Gly2850Ser):-,NOT_FOUND:-,0.060298 1 152279406 rs192116923 T G 155 lc VT=SNV;PN=T;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=T/0.8073,A/.,C/.,G/0.1927;Gene=FLG/NM_002016.1/1;CC=c.7956A>C;ProtCh=p.E2652D;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:129:103:0:0:52,77:1677,2217:154.78,0.00:134.72,0.00:20.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:46.9,20.2:0,0:0,0:64,64:86,87:32,34:NM_002016.1(FLG) c.7956A>C (p.Glu2652Asp),-:0.23,-:0.191992,- 1 152279729 rs3126072 C T 551 lc VT=SNV;PN=C;NN=A;SST=Single;DP=373;DB;DBA=NA;PAF=C/0.5252,T/0.4748;Gene=FLG/NM_002016.1/1;CC=c.7633G>A;ProtCh=p.G2545R;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:373:198:0:0:193,180:6142,5773:0.00,550.87:0.00,254.73:0.00,296.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,47.4:0,0:0,0:79,91:69,59:41,30:-,NM_002016.1(FLG) c.7633G>A (p.Gly2545Arg):-,0.4:-,0.281154 1 152279841 rs3126074 G C 701 lc VT=SNV;PN=A;NN=T;SST=Single;DP=403;DB;DBA=NA;PAF=G/0.5377,C/0.4623;Gene=FLG/NM_002016.1/1;CC=c.7521C>G;ProtCh=p.H2507Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:403:281:0:0:1,219,183:11,7172,6092:-0.13,701.15,0.00:-0.06,386.10,0.00:-0.07,315.05,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:55,60,60:158.0,69.5,9.6:0,0,0:0,0,0:119,57,67:32,89,76:0,31,33:NM_002016.1(FLG) c.7521C>G (p.His2507Gln),-:0.4,-:0.269799,- 1 152279920 rs55650366 A G 738 lc VT=SNV;PN=C;NN=A;SST=Single;DP=440;DB;DBA=NA;PAF=A/0.6575,C/.,G/0.3425;Gene=FLG/NM_002016.1/1;CC=c.7442T>C;ProtCh=p.L2481S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:440:297:0:0:193,243,4:5904,7526,40:0.00,738.36,-0.35:0.00,376.08,-0.12:0.00,362.28,-0.24:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.3,85.8,91.5:0,0,0:0,0,0:84,71,90:61,78,45:36,37,38:-,NM_002016.1(FLG) c.7442T>C (p.Leu2481Ser):-,0.31:-,0.15762 1 152279964 rs71625199 C T 793 lc VT=SNV;PN=C;NN=G;SST=Single;DP=438;DB;DBA=NA;PAF=C/0.9752,A/.,T/0.02476;Gene=FLG/NM_002016.1/1;CC=c.7398G>A;ProtCh=p.P2466=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:438:303:0:0:193,2,243:5806,22,8066:0.00,-0.28,792.69:0.00,-0.25,417.42:0.00,-0.03,375.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.4,76.0,85.9:1,0,0:0,0,0:73,46,78:75,100,70:39,0,41:-,NM_002016.1(FLG) c.7398G>A (p.(=)):-,0.02:-,0.017607 1 152280032 rs71625200 T C 749 lc VT=SNV;PN=T;NN=G;SST=Single;DP=480;DB;DBA=NA;PAF=T/0.6569,A/.,C/0.3431;Gene=FLG/NM_002016.1/1;CC=c.7330A>G;ProtCh=p.K2444E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:480:311:0:0:247,3,230:7748,49,7128:749.02,0.32,0.00:346.57,0.47,0.00:402.45,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:67.1,88.7,12.8:0,0,0:0,0,0:80,137,63:67,14,86:35,10,33:NM_002016.1(FLG) c.7330A>G (p.Lys2444Glu),-:0.27,-:0.15426,- 1 152280170 rs71625201 C G 570 lc VT=SNV;PN=T;NN=T;SST=Single;DP=470;DB;DBA=NA;PAF=C/0.6695,G/0.3305;Gene=FLG/NM_002016.1/1;CC=c.7192G>C;ProtCh=p.E2398Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:470:294:0:0:1,278,187,4:22,9017,6168,50:0.05,0.00,569.88,-0.44:-0.14,0.00,209.96,-0.20:0.19,0.00,359.92,-0.24:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,60,60,60:34.0,10.8,48.0,58.5:0,0,0,0:0,0,0,0:5,78,101,19:146,72,47,132:0,40,28,8:-,NM_002016.1(FLG) c.7192G>C (p.Glu2398Gln):-,0.28:-,0.154475 1 152280265 rs71625202 C G 337 lc VT=SNV;PN=A;NN=T;SST=Single;DP=439;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.7097G>C;ProtCh=p.S2366T;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:439:242:0:0:313,126:10130,3909:0.00,336.76:0.00,110.79:0.00,225.97:0.00,1.00:0.00,1.00:0.00,1.00:45,40:13.5,72.2:0,0:0,0:62,92:86,59:35,35:-,NM_002016.1(FLG) c.7097G>C (p.Ser2366Thr):-,0.25:-,0.099721 1 152280347 rs139476473 C T 252 lc VT=SNV;PN=T;NN=T;SST=Single;DP=486;DB;DBA=NA;PAF=NA;PC=0.223;Gene=FLG/NM_002016.1/1;CC=c.7015G>A;ProtCh=p.D2339N;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:486:328:0:0:383,103:12937,3116:0.00,251.84:0.00,198.47:0.00,53.37:0.00,1.00:0.00,1.00:0.00,1.00:50,40:12.4,85.4:0,0:0,0:71,63:76,87:32,36:-,NM_002016.1(FLG) c.7015G>A (p.Asp2339Asn):-,0.2:-,0.027953 1 152280372 rs142776569 G A 465 lc VT=SNV;PN=C;NN=T;SST=Single;DP=520;DB;DBA=NA;PAF=NA;NP=467;Gene=FLG/NM_002016.1/1;CC=c.6990C>T;ProtCh=p.H2330=;VC=Silent;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:520:339:0:0:167,351,2:5267,11045,21:465.07,0.00,-0.51:397.17,0.00,-0.26:67.89,0.00,-0.26:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,60,40:68.5,9.5,100.0:0,0,0:0,0,0:60,75,32:91,70,117:38,34,0:NM_002016.1(FLG) c.6990C>T (p.(=)),-:0.34,-:NOT_FOUND,- 1 152280471 rs78179835 C G 485 lc VT=SNV;PN=T;NN=T;SST=Single;DP=627;DB;DBA=NA;PAF=NA;NP=1174;Gene=FLG/NM_002016.1/1;CC=c.6891G>C;ProtCh=p.E2297D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:627:385:0:0:2,455,168,2:15,15169,5625,19:-0.56,0.00,485.00,-0.54:-0.27,0.00,190.30,-0.26:-0.29,0.00,294.70,-0.27:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:74.0,14.3,59.6,150.5:0,0,0,0:0,0,0,0:71,69,72,99:80,78,74,50:22,35,18,18:-,NM_002016.1(FLG) c.6891G>C (p.Glu2297Asp):-,NOT_FOUND:-,0.101799 1 152280559 rs150122015 T C 146 lc VT=SNV;PN=A;NN=G;SST=Single;DP=513;DB;DBA=NA;PAF=NA;NP=910;Gene=FLG/NM_002016.1/1;CC=c.6803A>G;ProtCh=p.H2268R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:513:283:0:0:2,68,2,441:21,2001,23,14128:-0.66,145.89,-0.64,0.00:-0.22,57.82,-0.20,0.00:-0.44,88.07,-0.44,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:171.0,94.5,23.0,8.6:0,0,0,0:0,0,0,0:102,118,77,82:48,23,74,66:36,16,13,33:NM_002016.1(FLG) c.6803A>G (p.His2268Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 152280573 rs76471961 C A 74 lc VT=SNV;PN=A;NN=G;SST=Single;DP=460;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.6789G>T;ProtCh=p.A2263=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:A,C,G:460:256:0:0:38,421,1:1118,13084,12:73.54,0.00,-0.33:23.21,0.00,-0.16:50.33,0.00,-0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:118.7,8.2,154.0:0,0,0:0,0,0:129,89,57:21,59,92:5,31,0:NM_002016.1(FLG) c.6789G>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152280736 rs66977240 T C 213 lc VT=SNV;PN=A;NN=G;SST=Single;DP=459;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.6626A>G;ProtCh=p.H2209R;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:459:282:0:0:1,86,1,371:12,2681,11,11652:-0.29,213.38,-0.29,0.00:-0.17,146.31,-0.17,0.00:-0.12,67.08,-0.13,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:122.0,145.8,42.0,35.2:0,0,0,0:0,0,0,0:132,31,95,82:18,116,56,68:0,16,0,40:NM_002016.1(FLG) c.6626A>G (p.His2209Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 152280759 rs2338554 A G 295 lc VT=SNV;PN=C;NN=T;SST=Single;DP=491;DB;DBA=NA;PAF=A/0.6328,G/0.3672,T/.;Gene=FLG/NM_002016.1/1;CC=c.6603T>C;ProtCh=p.D2201=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:491:331:0:0:375,1,114,1:11882,8,3561,14:0.00,-0.31,295.28,-0.27:0.00,-0.16,178.36,-0.12:0.00,-0.15,116.92,-0.15:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,54:40.4,27.0,146.1,173.0:0,0,0,0:0,0,0,0:71,133,41,76:78,18,107,53:42,0,23,0:-,NM_002016.1(FLG) c.6603T>C (p.(=)):-,0.28:-,0.203829 1 152280782 rs2184953 A G 1082 lc VT=SNV;PN=T;NN=T;SST=Single;DP=499;DB;DBA=NA;PAF=A/0.4603,G/0.5397;Gene=FLG/NM_002016.1/1;CC=c.6580T>C;ProtCh=p.Y2194H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:499:358:0:0:177,1,321:5379,15,10695:0.00,-0.08,1081.95:0.00,-0.01,644.76:0.00,-0.07,437.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.7,56.0,110.7:0,0,0:0,0,0:63,141,63:85,10,87:35,0,30:-,NM_002016.1(FLG) c.6580T>C (p.Tyr2194His):-,0.46:-,NOT_FOUND 1 152280788 rs66954353 T G 1111 lc VT=SNV;PN=T;NN=T;SST=Single;DP=506;DB;DBA=NA;PAF=NA;NP=1263;Gene=FLG/NM_002016.1/1;CC=c.6574A>C;ProtCh=p.K2192Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:506:368:0:0:332,174:10947,5530:1111.30,0.00:664.36,0.00:446.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:110.5,8.9:0,0:0,0:67,66:82,84:31,36:NM_002016.1(FLG) c.6574A>C (p.Lys2192Gln),-:NOT_FOUND,-:0.143626,- 1 152280864 rs2184954 A G 1210 lc VT=SNV;PN=G;NN=G;SST=Single;DP=610;DB;DBA=NA;PAF=A/0.5363,G/0.4637;Gene=FLG/NM_002016.1/1;CC=c.6498T>C;ProtCh=p.S2166=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:610:430:0:0:219,2,388,1:6911,35,11981,11:0.00,0.64,1210.42,-0.16:0.00,-0.14,634.69,-0.10:0.00,0.78,575.74,-0.07:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:9.5,48.5,88.4,82.0:0,0,0,0:0,0,0,0:66,47,76,47:79,102,73,66:32,5,33,0:-,NM_002016.1(FLG) c.6498T>C (p.(=)):-,0.35:-,0.26984 1 152280900 rs74129452 T G 396 lc VT=SNV;PN=C;NN=T;SST=Single;DP=577;DB;DBA=NA;PAF=T/0.6562,A/.,C/.,G/0.3438;Gene=FLG/NM_002016.1/1;CC=c.6462A>C;ProtCh=p.Q2154H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:577:383:0:0:1,146,430:11,4681,14317:-0.35,396.20,0.00:-0.15,186.45,0.00:-0.20,209.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:76.0,96.7,30.7:0,0,0:0,0,0:16,81,82:125,66,65:0,27,34:NM_002016.1(FLG) c.6462A>C (p.Gln2154His),-:NOT_FOUND,-:NOT_FOUND,- 1 152280972 . T C 153 lc VT=SNV;PN=A;NN=G;SST=Single;DP=434;NP=127;Gene=FLG/NM_002016.1/1;CC=c.6390A>G;ProtCh=p.A2130=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:434:234:0:0:68,1,365:2022,11,11571:153.08,-0.29,0.00:28.38,-0.12,0.00:124.71,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:110.6,55.0,16.4:0,0,0:0,0,0:123,33,83:23,116,66:12,0,35:NM_002016.1(FLG) c.6390A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152280994 . T C 67 sb,lc VT=SNV;PN=T;NN=G;SST=Single;DP=395;NP=14;Gene=FLG/NM_002016.1/1;CC=c.6368A>G;ProtCh=p.Q2123R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,G,T:395:215:0:0:34,1,360:1005,11,11366:66.56,-0.43,0.00:0.05,-0.18,0.00:66.51,-0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,60,60:122.2,24.0,13.5:0,0,0:0,0,0:134,121,75:8,30,69:10,0,38:NM_002016.1(FLG) c.6368A>G (p.Gln2123Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 152281317 rs71626704 G T 745 lc VT=SNV;PN=T;NN=T;SST=Single;DP=556;DB;DBA=NA;PAF=G/0.9752,T/0.02476;PC=0.024;Gene=FLG/NM_002016.1/1;CC=c.6045C>A;ProtCh=p.D2015E;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:556:336:0:0:2,298,256:21,9881,7897:-0.42,0.00,745.42:-0.26,0.00,318.36:-0.16,0.00,427.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:86.5,11.2,38.9:0,0,0:0,0,0:69,75,78:81,74,68:38,35,34:-,NM_002016.1(FLG) c.6045C>A (p.Asp2015Glu):-,0.02:-,0.017607 1 152281479 rs3126079 G T 680 lc VT=SNV;PN=C;NN=T;SST=Single;DP=536;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.5883C>A;ProtCh=p.H1961Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:536:356:0:0:311,225:9823,7314:0.00,680.39:0.00,369.50:0.00,310.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,43.9:0,0:0,0:74,76:76,72:34,32:-,NM_002016.1(FLG) c.5883C>A (p.His1961Gln):-,0.46:-,0.346917 1 152281691 rs36006086 G A 503 lc VT=SNV;PN=C;NN=A;SST=Single;DP=335;DB;DBA=NA;PAF=G/0.975,A/0.02496,T/.;Gene=FLG/NM_002016.1/1;CC=c.5671C>T;ProtCh=p.R1891W;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:335:189:0:0:167,1,167:5235,10,5282:502.54,-0.18,0.00:235.53,-0.09,0.00:267.01,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.9,191.0,13.6:0,0,0:0,0,0:83,46,77:67,105,68:37,0,35:NM_002016.1(FLG) c.5671C>T (p.Arg1891Trp),-:0.02,-:0.017684,- 1 152281745 rs62623409 G T 504 lc VT=SNV;PN=T;NN=T;SST=Single;DP=353;DB;DBA=NA;PAF=G/0.975,T/0.02496;Gene=FLG/NM_002016.1/1;CC=c.5617C>A;ProtCh=p.Q1873K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:353:217:0:0:2,181,170:39,5910,5289:0.63,0.00,504.22:-0.15,0.00,242.06:0.78,0.00,262.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:104.5,12.7,60.4:0,0,0:0,0,0:117,62,65:34,84,85:27,38,42:-,NM_002016.1(FLG) c.5617C>A (p.Gln1873Lys):-,0.02:-,0.017684 1 152281884 . T C 130 lc VT=SNV;PN=A;NN=C;SST=Single;DP=571;Gene=FLG/NM_002016.1/1;CC=c.5478A>G;ProtCh=p.G1826=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:571:414:0:0:62,1,508:1847,12,15788:129.70,-0.40,0.00:85.94,-0.25,0.00:43.76,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:170.1,85.0,11.9:0,0,0:0,0,0:11,38,62:136,111,86:7,0,32:NM_002016.1(FLG) c.5478A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152281890 . C T 136 lc VT=SNV;PN=G;NN=C;SST=Single;DP=584;Gene=FLG/NM_002016.1/1;CC=c.5472G>A;ProtCh=p.R1824=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:584:416:0:0:2,517,65:18,16461,1929:-0.62,0.00,135.89:-0.38,0.00,78.26:-0.25,0.00,57.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:98.5,12.4,162.8:0,0,0:0,0,0:105,68,16:39,82,132:5,34,7:-,NM_002016.1(FLG) c.5472G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 152281907 . A G 213 lc VT=SNV;PN=G;NN=C;SST=Single;DP=625;NP=20;PC=0.004;Gene=FLG/NM_002016.1/1;CC=c.5455T>C;ProtCh=p.S1819P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:625:444:0:0:525,5,87,8:15599,49,2799,87:0.00,-1.43,213.03,-1.72:0.00,-0.85,118.95,-1.65:0.00,-0.58,94.08,-0.06:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:8.7,84.0,138.6,96.5:0,0,0,0:0,0,0,0:73,61,27,61:74,88,121,88:35,28,11,29:-,NM_002016.1(FLG) c.5455T>C (p.Ser1819Pro):-,NOT_FOUND:-,NOT_FOUND 1 152281911 rs546421577 T C 218 lc VT=SNV;PN=C;NN=G;SST=Single;DP=638;DB;DBA=NA;PAF=NA;NP=24;Gene=FLG/NM_002016.1/1;CC=c.5451A>G;ProtCh=p.P1817=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:638:457:0:0:1,95,3,539:11,2890,25,17829:-0.44,218.38,-1.06,0.00:-0.26,127.82,-0.64,0.00:-0.18,90.55,-0.42,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:68.0,135.9,122.7,9.4:0,0,0,0:0,0,0,0:106,31,90,70:19,117,61,75:0,14,17,34:NM_002016.1(FLG) c.5451A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152282092 . T C 294 lc VT=SNV;PN=T;NN=C;SST=Single;DP=596;NP=11;PC=0.001;Gene=FLG/NM_002016.1/1;CC=c.5270A>G;ProtCh=p.E1757G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:596:349:0:0:120,7,469:3661,69,14613:294.30,-1.62,0.00:117.52,-1.16,0.00:176.78,-0.46,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:96.2,47.4,10.2:0,0,0:0,0,0:125,89,81:22,62,67:18,9,35:NM_002016.1(FLG) c.5270A>G (p.Glu1757Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 152282101 . T C 181 lc VT=SNV;PN=C;NN=G;SST=Single;DP=567;Gene=FLG/NM_002016.1/1;CC=c.5261A>G;ProtCh=p.Q1754R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:567:334:0:0:81,486:2427,15886:180.80,0.00:73.28,0.00:107.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:123.0,11.9:0,0:0,0:121,83:29,64:12,38:NM_002016.1(FLG) c.5261A>G (p.Gln1754Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 152282104 . C T 167 lc VT=SNV;PN=G;NN=C;SST=Single;DP=560;Gene=FLG/NM_002016.1/1;CC=c.5258G>A;ProtCh=p.G1753D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:560:329:0:0:2,483,75:24,15692,2265:-0.70,0.00,166.99:-0.38,0.00,51.38:-0.31,0.00,115.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.5,11.9,130.2:0,0,0:0,0,0:12,81,122:138,67,29:10,38,10:-,NM_002016.1(FLG) c.5258G>A (p.Gly1753Asp):-,NOT_FOUND:-,NOT_FOUND 1 152282111 rs577966299 T C 158 lc VT=SNV;PN=G;NN=G;SST=Single;DP=558;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.5251A>G;ProtCh=p.T1751A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:558:330:0:0:69,489:2159,15587:158.24,0.00:60.93,0.00:97.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:134.4,12.4:0,0:0,0:129,71:22,77:10,40:NM_002016.1(FLG) c.5251A>G (p.Thr1751Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 152282794 rs12750081 G A 362 lc VT=SNV;PN=T;NN=T;SST=Single;DP=307;DB;DBA=NA;PAF=G/0.975,A/0.02496;Gene=FLG/NM_002016.1/1;CC=c.4568C>T;ProtCh=p.T1523I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:307:212:0:0:127,179,1:3917,5766,8:362.07,0.00,-0.21:188.14,0.00,-0.11:173.93,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:49.1,9.7,29.0:0,0,0:0,0,0:61,66,94:89,82,52:31,35,0:NM_002016.1(FLG) c.4568C>T (p.Thr1523Ile),-:0.02,-:0.017684,- 1 152282910 rs71626706 G C 549 lc VT=SNV;PN=C;NN=T;SST=Single;DP=395;DB;DBA=NA;PAF=G/0.9752,A/.,C/0.02476;Gene=FLG/NM_002016.1/1;CC=c.4452C>G;ProtCh=p.D1484E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:395:278:0:0:1,181,213:8,5805,6809:-0.26,548.78,0.00:-0.14,309.90,0.00:-0.11,238.87,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:92.0,70.5,6.6:0,0,0:0,0,0:41,66,63:108,78,81:0,34,34:NM_002016.1(FLG) c.4452C>G (p.Asp1484Glu),-:0.02,-:0.017607,- 1 152282952 rs12732920 A G 520 lc VT=SNV;PN=C;NN=T;SST=Single;DP=375;DB;DBA=NA;PAF=A/0.975,G/0.02496;Gene=FLG/NM_002016.1/1;CC=c.4410T>C;ProtCh=p.H1470=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:375:259:0:0:200,175:6538,5494:0.00,520.14:0.00,264.61:0.00,255.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,67.9:0,0:0,0:78,72:68,70:35,38:-,NM_002016.1(FLG) c.4410T>C (p.(=)):-,0.02:-,0.017607 1 152283236 rs11581433 T C 940 lc VT=SNV;PN=C;NN=G;SST=Single;DP=639;DB;DBA=NA;PAF=T/0.6569,A/.,C/0.3431;Gene=FLG/NM_002016.1/1;CC=c.4126A>G;ProtCh=p.R1376G;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:639:441:0:0:1,318,1,319:20,9805,5,10719:-0.08,940.07,-0.27,0.00:-0.15,515.28,-0.14,0.00:0.07,424.79,-0.13,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,40,60:20.0,38.9,285.0,10.7:0,0,0,0:0,0,0,0:22,70,52,73:126,79,98,74:0,34,0,37:NM_002016.1(FLG) c.4126A>G (p.Arg1376Gly),-:0.27,-:0.15713,- 1 152283862 rs58001094 G C 603 lc VT=SNV;PN=T;NN=C;SST=Single;DP=454;DB;DBA=NA;PAF=G/0.4659,C/0.5341;Gene=FLG/NM_002016.1/1;CC=c.3500C>G;ProtCh=p.A1167G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:454:298:0:0:3,205,245,1:66,6401,7999,8:1.81,602.96,0.00,-0.20:0.51,266.29,0.00,-0.11:1.31,336.67,0.00,-0.09:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:83.7,46.0,13.6,57.0:0,0,0,0:0,0,0,0:38,83,64,55:113,64,79,96:38,39,35,0:NM_002016.1(FLG) c.3500C>G (p.Ala1167Gly),-:0.37,-:0.310165,- 1 152283975 rs66831674 A G 477 lc VT=SNV;PN=C;NN=G;SST=Single;DP=393;DB;DBA=NA;PAF=A/0.5369,G/0.4631;Gene=FLG/NM_002016.1/1;CC=c.3387T>C;ProtCh=p.S1129=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:393:233:0:0:220,172,1:7188,5124,13:0.00,477.46,-0.22:0.00,232.21,-0.06:0.00,245.25,-0.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,43:10.0,47.4,62.0:0,0,0:0,0,0:66,76,125:81,73,25:37,36,0:-,NM_002016.1(FLG) c.3387T>C (p.(=)):-,0.36:-,0.263611 1 152284424 rs12756586 G C 987 lc VT=SNV;PN=T;NN=T;SST=Single;DP=595;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.2938C>G;ProtCh=p.H980D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:595:389:0:0:2,304,289:17,10210,9686:-0.33,987.46,0.00:-0.16,533.76,0.00:-0.17,453.71,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:67.5,53.6,6.8:0,0,0:0,0,0:27,62,77:123,87,70:10,38,34:NM_002016.1(FLG) c.2938C>G (p.His980Asp),-:NOT_FOUND,-:NOT_FOUND,- 1 152284478 rs199888588 A G 130 lc VT=SNV;PN=C;NN=C;SST=Single;DP=593;DB;DBA=NA;PAF=NA;NP=111;Gene=FLG/NM_002016.1/1;CC=c.2884T>C;ProtCh=p.W962R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:593:373:0:0:527,3,61,2:16430,26,1856,23:0.00,-1.03,130.18,-0.59:0.00,-0.50,88.49,-0.32:0.00,-0.53,41.68,-0.27:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:18.3,58.3,169.8,55.0:0,0,0,0:0,0,0,0:82,80,42,71:67,71,105,77:34,12,15,19:-,NM_002016.1(FLG) c.2884T>C (p.Trp962Arg):-,NOT_FOUND:-,NOT_FOUND 1 152284497 rs144437056 A G 157 lc VT=SNV;PN=A;NN=T;SST=Single;DP=587;DB;DBA=NA;PAF=A/0.9487,G/0.05132,T/.;Gene=FLG/NM_002016.1/1;CC=c.2865T>C;ProtCh=p.H955=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:587:366:0:0:523,1,62,1:16609,12,2130,9:0.00,-0.42,156.78,-0.44:0.00,-0.21,103.08,-0.19:0.00,-0.21,53.69,-0.25:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,56,52,60:17.2,12.0,178.9,67.0:0,0,0,0:0,0,0,0:85,39,66,22:63,111,81,129:35,0,22,0:-,NM_002016.1(FLG) c.2865T>C (p.(=)):-,NOT_FOUND:-,0.001768 1 152284505 rs201137357 C G 157 lc VT=SNV;PN=T;NN=A;SST=Single;DP=587;DB;DBA=NA;PAF=C/0.8632,G/0.1368;NP=233;Gene=FLG/NM_002016.1/1;CC=c.2857G>C;ProtCh=p.E953Q;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:587:359:0:0:1,523,63:8,17374,2133:-0.44,0.00,156.69:-0.20,0.00,94.56:-0.24,0.00,62.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,52:46.0,15.2,178.7:0,0,0:0,0,0:107,80,71:44,67,77:0,36,18:-,NM_002016.1(FLG) c.2857G>C (p.Glu953Gln):-,NOT_FOUND:-,0.034369 1 152284541 rs138002269 G A 130 lc VT=SNV;PN=C;NN=C;SST=Single;DP=529;DB;DBA=NA;PAF=NA;NP=104;Gene=FLG/NM_002016.1/1;CC=c.2821C>T;ProtCh=p.R941C;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:529:315:0:0:60,1,467,1:1824,12,14904,13:130.34,-0.37,0.00,-0.36:68.34,-0.18,0.00,-0.14:61.99,-0.19,0.00,-0.22:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:52,59,60,60:185.4,78.0,10.4,77.0:0,0,0,0:0,0,0,0:102,146,77,121:47,5,74,30:15,0,36,0:NM_002016.1(FLG) c.2821C>T (p.Arg941Cys),-:0.01,-:NOT_FOUND,- 1 152284576 rs143382793 C A 87 lc VT=SNV;PN=G;NN=C;SST=Single;DP=480;DB;DBA=NA;PAF=NA;Gene=FLG/NM_002016.1/1;CC=c.2786G>T;ProtCh=p.G929V;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,C:480:278:0:0:43,437:1289,14102:86.95,0.00:39.30,0.00:47.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:199.3,7.8:0,0:0,0:126,82:25,66:12,37:NM_002016.1(FLG) c.2786G>T (p.Gly929Val),-:NOT_FOUND,-:NOT_FOUND,- 1 152284854 rs3120653 A G 676 lc VT=SNV;PN=C;NN=T;SST=Single;DP=436;DB;DBA=NA;PAF=A/0.5268,C/.,G/0.4732;Gene=FLG/NM_002016.1/1;CC=c.2508T>C;ProtCh=p.D836=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:436:230:0:0:210,3,221,2:6652,75,7008,24:0.00,2.53,676.44,-0.28:0.00,-0.13,268.44,-0.05:0.00,2.66,408.00,-0.23:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:9.8,124.0,41.6,122.5:0,0,0,0:0,0,0,0:89,124,78,84:59,27,69,63:32,19,36,48:-,NM_002016.1(FLG) c.2508T>C (p.(=)):-,0.4:-,0.282177 1 152285076 rs558269137 CACTG C 600 lc VT=DEL;SST=Single;DP=440;DB;DBA=in-clinvar;PAF=CACTG/0.9946,C/0.005391;NP=126;Gene=FLG/NM_002016.1/1;CC=c.2282_2285delCAGT;ProtCh=p.S761Cfs*36;VC=FrameShiftDel;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CACTG,C:440:328:0:198:242,198:7972,6372:0.00,600.20:0.00,372.89:0.00,227.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,9.2:1,0:0,0:67,58:75,87:42,31:-,NM_002016.1(FLG) c.2278CAGT[1] (p.Ser761Cysfs*36):-,NOT_FOUND:-,0.016907 1 152285099 rs74129461 C T 708 lc VT=SNV;PN=T;NN=T;SST=Single;DP=472;DB;DBA=NA;PAF=C/0.6723,T/0.3277;Gene=FLG/NM_002016.1/1;CC=c.2263G>A;ProtCh=p.E755K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:472:348:0:0:237,235:7942,7379:0.00,707.77:0.00,419.10:0.00,288.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,59.1:0,0:0,0:60,66:85,81:34,36:-,NM_002016.1(FLG) c.2263G>A (p.Glu755Lys):-,0.28:-,0.139243 1 152285181 rs7512779 G T 833 lc VT=SNV;PN=C;NN=T;SST=Single;DP=558;DB;DBA=NA;PAF=G/0.975,A/.,C/.,T/0.02496;Gene=FLG/NM_002016.1/1;CC=c.2181C>A;ProtCh=p.H727Q;VC=Missense;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:558:405:0:0:3,294,261:34,9103,8745:-0.39,0.00,832.64:-0.17,0.00,468.34:-0.21,0.00,364.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:47.3,9.6,55.3:0,0,0:0,0,0:123,60,73:28,85,71:26,30,36:-,NM_002016.1(FLG) c.2181C>A (p.His727Gln):-,0.02:-,0.017684 1 152285930 rs11584340 G A 631 lc VT=SNV;PN=G;NN=C;SST=Single;DP=415;DB;DBA=NA;PAF=G/0.6554,A/0.3446;Gene=FLG/NM_002016.1/1;CC=c.1432C>T;ProtCh=p.P478S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:415:240:0:0:211,2,201,1:6540,28,6452,10:630.57,-0.06,0.00,-0.15:323.12,-0.17,0.00,-0.07:307.45,0.12,0.00,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:54.7,113.5,12.5,188.0:0,0,0,0:0,0,0,0:78,62,84,37:71,88,67,103:36,26,38,0:NM_002016.1(FLG) c.1432C>T (p.Pro478Ser),-:0.31,-:0.158312,- 1 152286002 rs2011331 T C 553 lc VT=SNV;PN=G;NN=G;SST=Single;DP=345;DB;DBA=NA;PAF=T/0.5359,C/0.4641;Gene=FLG/NM_002016.1/1;CC=c.1360A>G;ProtCh=p.T454A;VC=Missense;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:345:205:0:0:1,181,2,161:12,5695,21,4989:-0.16,553.03,-0.27,0.00:-0.04,266.44,-0.19,0.00:-0.11,286.59,-0.08,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:44.0,59.9,163.5,13.9:0,0,0,0:0,0,0,0:134,91,67,76:17,59,83,68:0,34,64,42:NM_002016.1(FLG) c.1360A>G (p.Thr454Ala),-:0.4,-:0.270567,- 1 152286204 rs139754714 G T 420 lc VT=SNV;PN=C;NN=G;SST=Single;DP=321;DB;DBA=NA;PAF=G/0.9944,A/.,T/0.005591;Gene=FLG/NM_002016.1/1;CC=c.1158C>A;ProtCh=p.S386=;VC=Silent;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding;DM=FLG/Filaggrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:321:225:0:0:186,135:5508,4500:0.00,419.72:0.00,204.86:0.00,214.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,42.3:0,0:0,0:70,73:80,72:27,35:-,NM_002016.1(FLG) c.1158C>A (p.(=)):-,0.01:-,0.012686 1 152286367 rs41267154 C A 327 lc VT=SNV;PN=G;NN=C;SST=Single;DP=274;DB;DBA=NA;PAF=C/0.6593,A/0.3407;Gene=FLG/NM_002016.1/1;CC=c.995G>T;ProtCh=p.G332V;VC=Missense;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:274:150:0:0:115,159:3536,5157:327.44,0.00:164.58,0.00:162.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,4.0:1,0:0,0:89,93:61,53:33,35:NM_002016.1(FLG) c.995G>T (p.Gly332Val),-:0.31,-:0.155774,- 1 152287224 . C . . NT END=152287794;NT GT ./. 1 152287341 rs397864332 CT C 25 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=CT/0.6492,C/0.3508;DB;DBA=NA;PAF=CT/0.6492,C/0.3508;NP=319;Gene=FLG/NM_002016.1/1;CC=c.139-119delA;VC=Intron;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,I,C:22:2:2:9:1,10,2,9:8,309,66,269:0.02,0.00,5.06,25.42:-0.02,0.00,-0.04,2.56:0.04,0.00,5.10,22.85:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.71:0.00,0.00,0.00,1.00:60,60,60,60:72.0,6.4,6.5,11.8:0,0,0,0:0,0,0,0:113,141,79,87:3,9,72,64:0,7,24,22:-,NM_002016.1(FLG) c.139-119delA:-,NOT_FOUND:-,NOT_FOUND 1 152287933 . C . . NT END=152323085;NT GT ./. 1 152328095 rs16842865 C T 468 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=334;DB;DBA=NA;PAF=C/0.9718,T/0.02815;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding;Gene=FLG-AS1/NR_103779.1/0;VC=NonCoding;Gene=FLG2/NM_001014342.2/1;CC=c.2167G>A;ProtCh=p.E723K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:334:192:0:0:2,171,1,160:18,5160,6,4912:-0.34,0.00,-0.21,467.93:-0.20,0.00,-0.10,169.15:-0.14,0.00,-0.11,298.78:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:72.0,19.8,89.0,43.5:0,0,0,0:0,0,0,0:85,77,109,72:50,72,42,73:7,40,0,40:-,NM_001014342.2(FLG2) c.2167G>A (p.Glu723Lys):-,0.02:-,0.028448 1 152328411 rs6679449 A G 500 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=369;DB;DBA=NA;PAF=A/0.5168,G/0.4832;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding;Gene=FLG-AS1/NR_103779.1/0;VC=NonCoding;Gene=FLG2/NM_001014342.2/1;CC=c.1851T>C;ProtCh=p.S617=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:369:241:0:0:199,2,164,4:5550,25,5306,42:0.00,-0.24,500.43,-0.46:0.00,-0.03,305.81,-0.12:0.00,-0.20,194.62,-0.34:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,24,60,40:24.9,109.5,55.6,60.8:0,0,0,0:0,0,0,0:67,118,69,97:74,32,79,53:38,29,41,26:-,NM_001014342.2(FLG2) c.1851T>C (p.(=)):-,0.36:-,0.332231 1 152329852 rs6587667 C T 179 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.9716,T/0.02835;PC=0.708;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding;Gene=FLG-AS1/NR_103779.1/0;VC=NonCoding;Gene=FLG2/NM_001014342.2/1;CC=c.410G>A;ProtCh=p.G137E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:56:0:0:45,57:1471,1821:0.00,178.88:0.00,80.68:0.00,98.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,42.2:0,0:0,0:75,74:76,74:35,30:-,NM_001014342.2(FLG2) c.410G>A (p.Gly137Glu):-,0.02:-,0.028448 1 152330124 . C . . NT END=152331222;NT GT ./. 1 152331361 . C . . NT END=152382069;NT GT ./. 1 152331533 rs2275264 T G 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5188,G/0.4812;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding;Gene=FLG-AS1/NR_103779.1/0;VC=NonCoding;Gene=FLG2/NM_001014342.2/1;CC=c.-22-151A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:27:0:0:0:16,11:538,328:53.54,0.00:0.00,0.00:53.54,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.4,7.8:0,0:0,0:97,119:53,31:19,19:XR_108352.2(FLG-AS1) n.152-4930T>G,-:0.42,-:NOT_FOUND,- 1 152337497 rs397838384 TCA T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;Gene=FLG-AS1/NR_103778.1/0;VC=NonCoding;Gene=FLG-AS1/NR_103779.1/0;VC=NonCoding;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TCA,T:4:4:0:4:1,3:34,111:0.00,9.77:0.00,6.11:0.00,3.65:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,54.7:0,1:0,0:118,73:32,78:0,12:-,XR_108352.2(FLG-AS1) n.1188AC[22]:-,NOT_FOUND:-,NOT_FOUND 1 152383420 . C . . NT END=152384571;NT GT ./. 1 152384710 . C . . NT END=152484010;NT GT ./. 1 152484129 rs2105117 G A 262 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=185;DB;DBA=NA;PAF=G/0.478,A/0.522;PC=0.001;Gene=LCE5A/NM_178438.4/1;CC=c.119G>A;ProtCh=p.C40Y;VC=Missense;DM=LCE5A/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:185:144:0:0:92,92,1:2737,3105,11:261.96,0.00,-0.13:160.51,0.00,-0.13:101.45,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.7,4.9,79.0:0,0,0:0,0,0:55,60,36:91,88,114:31,32,0:NM_178438.4(LCE5A) c.119G>A (p.Cys40Tyr),-:0.56,-:0.536214,- 1 152484368 . C . . NT END=152487859;NT GT ./. 1 152487979 rs2282296 C T 165 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.5204,T/0.4796;PC=0.012;Gene=CRCT1/NM_019060.2/1;CC=c.120C>T;ProtCh=p.C40=;VC=Silent;DM=CRCT1/NICE-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:71:0:0:52,54:1728,1714:0.00,165.21:0.00,90.46:0.00,74.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,57.8:0,0:0,0:72,65:78,80:37,41:-,NM_019060.2(CRCT1) c.120C>T (p.(=)):-,0.52:-,0.567326 1 152488063 rs1053588 C T 198 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=C/0.4149,A/.,T/0.5851;PC=0.725;Gene=CRCT1/NM_019060.2/1;CC=c.204C>T;ProtCh=p.R68=;VC=Silent;DM=CRCT1/NICE-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:149:100:0:0:82,67:2617,2104:0.00,197.83:0.00,100.35:0.00,97.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,49.0:0,0:0,0:67,63:83,82:34,31:-,NM_019060.2(CRCT1) c.204C>T (p.(=)):-,0.6:-,0.640156 1 152488160 . G . . NT END=152538405;NT GT ./. 1 152488428 rs1053590 T C 31 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3824,C/0.6176;Gene=CRCT1/NM_019060.2/1;CC=c.*269T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,T:15:0:0:0:10,5:302,169:30.79,0.00:0.00,0.00:30.79,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.9,16.6:0,0:0,0:109,87:41,63:32,16:NM_019060.2(CRCT1) c.*269T>C,-:0.62,-:NOT_FOUND,- 1 152538358 rs17659359 G C 285 nt VT=SNV;PN=G;NN=A;SST=Single;DP=150;DB;DBA=NA;PAF=G/0.7414,C/0.2586;PC=0.001;Gene=LCE3E/NM_178435.3/1;CC=c.*48C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:150:140:0:0:87,63:2876,1833:284.91,0.00:235.01,0.00:49.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,10.9:0,0:0,0:41,38:107,110:27,27:NM_178435.2(LCE3E) c.*48C>G,-:0.25,-:0.223958,- 1 152538685 . C . . NT END=152552133;NT GT ./. 1 152552413 . C . . NT END=152573207;NT GT ./. 1 152552461 rs4845313 C A 175 nt VT=SNV;PN=T;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.7678,A/0.2322;Gene=LCE3D/NM_032563.1/1;CC=c.-21-28G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:117:44:0:0:60,56,1:1814,1766,10:174.94,0.00,-0.13:55.14,0.00,-0.05:119.81,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.1,4.9,86.0:0,0,0:0,0,0:110,109,38:41,39,113:26,23,0:NM_032563.1(LCE3D) c.-21-28G>T,-:0.23,-:0.214747,- 1 152573493 . C . . NT END=152586286;NT GT ./. 1 152586575 . C . . NT END=152595309;NT GT ./. 1 152595580 . C . . NT END=152636581;NT GT ./. 1 152636915 . C . . NT END=152648491;NT GT ./. 1 152648825 . C . . NT END=152659319;NT GT ./. 1 152654064 . T TAC 10 rn VT=INS;SST=Single;DP=8;NP=7;PC=0.006;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:T,TAC,D:8:6:3:2:3,3,2:77,101,66:0.00,9.65,5.98:0.00,4.97,4.64:0.00,4.68,1.34:0.00,0.67,0.00:0.00,0.93,0.00:0.00,0.93,0.00:60,60,60:0.0,0.0,16.0:0,0,0:0,0,0:33,75,18:100,55,132:18,23,3:-,NM_014357.4(LCE2B) c.-54-u4535_-54-u4534insAC:-,NOT_FOUND:-,NOT_FOUND 1 152659653 . C . . NT END=152671377;NT GT ./. 1 152671385 rs80271068 G A 272 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=182;DB;DBA=NA;PAF=G/0.992,A/0.007987;PC=0.999;Gene=LCE2A/NM_178428.3/1;CC=c.8G>A;ProtCh=p.C3Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:182:159:0:0:94,87,1:2820,2895,13:272.19,0.00,-0.08:221.86,0.00,-0.13:50.33,0.00,0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.0,12.5,165.0:0,0,0:0,0,0:54,50,16:92,88,134:22,31,0:NM_178428.3(LCE2A) c.8G>A (p.Cys3Tyr),-:0.01,-:0.013917,- 1 152671699 . C . . NT END=152681551;NT GT ./. 1 152681543 rs1332496 T C 369 nt VT=SNV;PN=T;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=3468;Gene=LCE4A/NM_178356.3/1;CC=c.-9T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:99:84:0:0:97,2:3236,24:368.96,0.55:245.70,0.55:123.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.8,131.0:0,0:0,0:54,75:92,67:22,63:NM_178356.2(LCE4A) c.-9T>C,NM_178356.2(LCE4A) c.-9T>C:1,1:0.999616,0.999616 1 152681603 rs41268472 A G 146 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.9726,G/0.02736;Gene=LCE4A/NM_178356.3/1;CC=c.52A>G;ProtCh=p.I18V;VC=Missense;DM=LCE4A/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:107:80:0:0:61,46:1880,1553:0.00,145.51:0.00,77.42:0.00,68.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.9,62.5:0,0:0,0:69,92:75,55:30,21:-,NM_178356.2(LCE4A) c.52A>G (p.Ile18Val):-,0.03:-,0.021452 1 152681680 rs6143428 C CAGCTCTGGGGGCTGCTGT 209 PASS VT=INS;SST=Single;DP=100;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1959,CAGCTCTGGAGGCTGCTGT/0.002796,CAGCTCTGGGGGATGCTGT/0.0007987,CAGCTCTGGGGGCTGCTG/.,CAGCTCTGGGGGCTGCTGT/0.8005;NP=2;PC=0.002;Gene=LCE4A/NM_178356.3/1;CC=c.143_144insCTGTAGCTCTGGGGGCTG;ProtCh=p.C48_G49insCSSGGC;VC=InFrameIns;DM=LCE4A/LCE;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAGCTCTGGGGGCTGCTGT:100:68:63:0:37,63:1175,2071:0.00,208.56:0.00,130.32:0.00,78.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.3,3.6:0,0:0,0:125,53:15,95:12,14:-,NM_178356.2(LCE4A) c.143_144insCTGTAGCTCTGGGGGCTG (p.Cys48_Gly49insCysSerSerGlyGlyCys):-,NOT_FOUND:-,NOT_FOUND 1 152681852 . C . . NT END=152691997;NT GT ./. 1 152682058 rs76635542 TTTTCTGA T 27 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=TTTTCTGA/0.8357,T/0.1643;DB;DBA=NA;PAF=TTTTCTGA/0.8357,T/0.1643;NP=7;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTTCTGA,T:20:0:0:9:11,9:352,288:0.00,27.12:0.00,0.00:0.00,27.12:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.5,0.0:0,0:0,0:107,107:44,44:29,22:-,chr1 g.152682059_152682065delTTTCTGA (intergenic):-,0.18:-,NOT_FOUND 1 152682350 rs4353097 A C 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8606,C/0.1394 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C,T:4:2:0:0:1,2,1:34,69,8:0.00,6.95,0.55:0.00,7.25,0.00:0.00,-0.30,0.55:0.00,0.51,0.00:0.00,0.79,0.00:0.00,0.79,0.00:60,60,60:0.0,34.5,114.0:0,0,0:0,0,0:85,29,140:64,119,11:0,16,0:-,chr1 g.152682349A>C (intergenic):-,0.17:-,NOT_FOUND 1 152682478 . GTCTCTCTC G 6 nt VT=DEL;SST=Single;DP=4;NP=9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:GTCTCTCTC,G:4:4:0:2:2,2:58,67:0.00,6.45:0.00,2.92:0.00,3.53:0.00,0.51:0.00,0.51:0.00,0.79:60,60:21.0,0.0:1,0:0,0:29,94:120,31:10,8:-,chr1 g.152682479_152682486delTCTCTCTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 152691943 rs1332499 G A 127 nt VT=SNV;PN=T;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.6508,A/0.3492 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:68:0:0:41,34:1295,1118:126.56,0.00:105.54,0.00:21.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.5,7.7:0,0:0,0:34,44:107,105:21,22:NM_001024679.2(C1orf68) c.1-u55G>A,-:0.35,-:NOT_FOUND,- 1 152692074 rs1332500 G C 249 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=158;DB;DBA=NA;PAF=G/0.6508,C/0.3492;PC=0.001;Gene=C1orf68/NM_001024679.2/1;CC=c.77G>C;ProtCh=p.S26T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:158:123:0:0:81,77:2577,2617:248.62,0.00:149.74,0.00:98.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,4.8:0,0:0,0:68,64:81,83:41,36:NM_001024679.2(C1orf68) c.77G>C (p.Ser26Thr),-:0.35,-:NOT_FOUND,- 1 152692472 rs873775 A C 211 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.6508,C/0.3492;PC=0.607;Gene=C1orf68/NM_001024679.2/1;CC=c.475A>C;ProtCh=p.T159P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:147:90:0:0:77,70:2441,2216:0.00,210.83:0.00,103.62:0.00,107.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,43.6:0,0:0,0:82,74:65,75:42,31:-,NM_001024679.2(C1orf68) c.475A>C (p.Thr159Pro):-,0.35:-,0.395751 1 152692512 rs41268474 G A 219 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=G/0.9002,A/0.09984;PC=0.804;Gene=C1orf68/NM_001024679.2/1;CC=c.515G>A;ProtCh=p.C172Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:145:96:0:0:72,73:2286,2410:219.19,0.00:114.50,0.00:104.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,42.4:0,0:0,0:68,82:83,65:34,35:NM_001024679.2(C1orf68) c.515G>A (p.Cys172Tyr),-:0.1,-:0.098774,- 1 152692588 rs944682 A G 199 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=155;DB;DBA=NA;PAF=A/0.6508,G/0.3492;Gene=C1orf68/NM_001024679.2/1;CC=c.591A>G;ProtCh=p.S197=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:155:103:0:0:88,66,1:2894,2131,13:0.00,198.91,-0.10:0.00,100.37,0.01:0.00,98.54,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:22.0,40.8,23.0:0,0,0:0,0,0:72,65,99:69,84,52:38,28,0:-,NM_001024679.2(C1orf68) c.591A>G (p.(=)):-,0.35:-,0.395532 1 152692751 . A . . NT END=152732064;NT GT ./. 1 152692781 rs3814350 G T 90 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.6508,T/0.3492;Gene=C1orf68/NM_001024679.2/1;CC=c.*31G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:71:17:0:0:40,31:1329,965:0.00,90.13:0.00,8.44:0.00,81.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,42.4:0,0:0,0:111,118:39,26:20,22:-,NM_001024679.2(C1orf68) c.*31G>T:-,0.35:-,0.394656 1 152692862 rs3814351 G C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6506,C/0.3494;Gene=C1orf68/NM_001024679.2/1;CC=c.*112G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:17:0:0:0:7,10:194,311:17.73,0.00:0.00,0.00:17.73,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:86.9,6.2:0,0:0,0:130,94:21,57:14,30:NM_001024679.2(C1orf68) c.*112G>C,-:0.35,-:NOT_FOUND,- 1 152692948 rs3814352 T A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6506,A/0.3494;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,T:11:0:0:0:6,5:166,134:16.12,0.00:0.00,0.00:16.12,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:97.0,12.4:0,0:0,0:63,107:87,43:16,15:chr1 g.152692947T>A (intergenic),-:0.35,-:NOT_FOUND,- 1 152692952 rs3814353 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6506,A/0.3494 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:10:0:0:0:6,4:185,130:18.44,0.00:0.00,0.00:18.44,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:97.0,15.5:0,0:0,0:67,103:83,46:16,11:chr1 g.152692951G>A (intergenic),-:0.35,-:NOT_FOUND,- 1 152710165 rs11588950 G T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7314,T/0.2686;PC=0.872 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:G,T:12:2:0:0:8,4:224,126:0.00,11.20:0.00,2.32:0.00,8.87:0.00,0.80:0.00,0.63:0.00,0.97:60,60:13.5,40.2:0,0:0,0:102,89:49,61:32,51:-,chr1 g.152710164G>T (intergenic):-,0.28:-,NOT_FOUND 1 152732174 rs944683 T C 252 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=T/0.8101,C/0.1899,G/.;PC=0.612;Gene=KPRP/NM_001025231.1/1;CC=c.110T>C;ProtCh=p.V37A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:138:91:0:0:75,1,62:2568,9,1822:251.69,-0.13,0.00:110.36,-0.05,0.00:141.33,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.1,32.0,6.3:0,0,0:0,0,0:93,118,85:58,33,55:31,0,41:NM_001025231.1(KPRP) c.110T>C (p.Val37Ala),-:0.2,-:0.119868,- 1 152732436 rs4845480 G C 560 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=152;DB;DBA=NA;PAF=NA;Gene=KPRP/NM_001025231.1/1;CC=c.372G>C;ProtCh=p.A124=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:152:81:0:0:151,1:4883,10:559.69,0.07:242.73,0.00:316.96,0.07:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,176.0:0,0:0,0:90,101:55,50:37,0:NM_001025231.1(KPRP) c.372G>C (p.(=)),NM_001025231.1(KPRP) c.372G>C (p.(=)):0.51,0.51:0.519837,0.519837 1 152732567 rs16834461 G A 198 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=G/0.7474,A/0.2526;Gene=KPRP/NM_001025231.1/1;CC=c.503G>A;ProtCh=p.R168H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:142:89:0:0:64,77,1:2097,2390,11:198.07,0.00,-0.14:108.29,0.00,-0.01:89.78,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.2,11.3,32.0:0,0,0:0,0,0:63,67,53:84,78,98:34,31,0:NM_001025231.1(KPRP) c.503G>A (p.Arg168His),-:0.25,-:0.175611,- 1 152733301 rs4329520 T A 471 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=T/0.5098,A/0.4902;Gene=KPRP/NM_001025231.1/1;CC=c.1237T>A;ProtCh=p.C413S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:131:75:0:0:129,1,1:4124,12,35:471.00,0.13,0.00:195.42,-0.00,0.00:275.58,0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.7,22.0,0.0:0,0,0:0,0,0:73,49,59:74,99,92:36,0,0:NM_001025231.1(KPRP) c.1237T>A (p.Cys413Ser),NM_001025231.1(KPRP) c.1237T>A (p.Cys413Ser):0.51,0.51:0.519914,0.519914 1 152733805 . A . . NT END=152748847;NT GT ./. 1 152749008 rs200931119 C CCAGCTCTGGGGGCTGCTG 207 PASS VT=INS;SST=Single;DP=423;DB;DBA=NA;PAF=NA;NP=7;PC=0.004;Gene=LCE1F/NM_178354.2/1;CC=c.174_191dupCTGCTGCAGCTCTGGGGG;ProtCh=p.G64_G65insCCSSGG;VC=InFrameIns;DM=LCE1F/LCE;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,CCAGCTCTGGGGGCTGCTG,D:423:289:79:6:333,5,1,79,5:10841,121,8,2564,167:0.00,3.82,-0.28,206.70,7.77:0.00,2.21,-0.13,140.71,5.67:0.00,1.61,-0.15,65.99,2.10:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:9.4,44.4,119.0,2.1,4.4:0,0,0,0,0:0,0,0,0,0:82,3,83,41,75:56,146,68,107,76:27,2,0,11,20:-,NM_178354.2(LCE1F) c.174_191dupCTGCTGCAGCTCTGGGGG (p.Cys59_Gly64dup):-,NOT_FOUND:-,NOT_FOUND 1 152749036 rs149277953 GGGTGGT G 128 PASS VT=DEL;SST=Single;DP=462;DB;DBA=NA;PAF=GGGTGGT/0.9289,G/0.07109;NP=287;PC=0.010;Gene=LCE1F/NM_178354.2/1;CC=c.192_197delTGGTGG;ProtCh=p.G65_G66del;VC=InFrameDel;DM=LCE1F/LCE;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGTGGT,T,G:462:301:0:59:403,1,58:12654,9,1757:0.00,-0.33,127.75:0.00,-0.16,45.78:0.00,-0.17,81.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.8,111.0,15.1:7,0,0:0,0,0:82,38,109:65,100,21:29,0,10:-,NM_178354.2(LCE1F) c.192_197delTGGTGG (p.Gly63[2]):-,NOT_FOUND:-,0.068745 1 152749205 . A . . NT END=152759775;NT GT ./. 1 152749328 rs872180 C T 106 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.8019,T/0.1981;Gene=LCE1F/NM_178354.2/1;CC=c.*124C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:0:0:0:22,34:709,1058:0.00,105.67:0.00,0.00:0.00,105.67:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.2,44.3:0,0:0,0:106,110:44,40:38,26:-,NM_178354.2(LCE1F) c.*124C>T:-,0.21:-,NOT_FOUND 1 152759678 rs1034109 C T 392 nt VT=SNV;PN=A;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.4635,T/0.5365;Gene=LCE1E/NM_178353.1/1;CC=c.-22-76C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:110:107:0:0:1,109:13,3411:0.18,392.36:0.18,376.58:0.00,15.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,40.8:0,0:0,0:50,45:101,106:0,28:NM_178353.1(LCE1E) c.-22-76C>T,NM_178353.1(LCE1E) c.-22-76C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 152759950 rs11205106 A G 2410 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=693;DB;DBA=NA;PAF=NA;PC=0.399;Gene=LCE1E/NM_178353.1/1;CC=c.175A>G;ProtCh=p.S59G;VC=Missense;DM=LCE1E/LCE;DM=LCE1E/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:693:504:0:0:3,2,686,2:104,13,20943,50:0.00,0.02,2409.96,1.23:0.00,0.02,1296.22,-0.00:0.00,0.01,1113.75,1.24:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:7.0,86.5,45.4,101.5:0,0,0,0:0,0,0,0:46,105,62,111:105,25,83,40:23,29,28,39:NM_178353.1(LCE1E) c.175A>G (p.Ser59Gly),NM_178353.1(LCE1E) c.175A>G (p.Ser59Gly):0.51,0.51:0.561385,0.561385 1 152760075 rs201660535 A G 1320 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=383;DB;DBA=NA;PAF=A/0.7338,G/0.2662,T/.;NP=484;Gene=LCE1E/NM_178353.1/1;CC=c.300A>G;ProtCh=p.S100=;VC=Silent;DM=LCE1E/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:383:135:0:0:4,2,375,2:112,12,11521,31:0.00,0.03,1319.78,0.38:0.00,-0.01,298.05,0.10:0.00,0.03,1021.73,0.28:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,43,60,58:33.8,139.0,94.0,84.5:0,0,0,0:0,0,0,0:131,71,96,134:14,60,52,13:13,36,28,5:NM_178353.1(LCE1E) c.300A>G (p.(=)),NM_178353.1(LCE1E) c.300A>G (p.(=)):NOT_FOUND,NOT_FOUND:0.041837,0.041837 1 152760093 rs112600788 T C 1116 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=325;DB;DBA=NA;PAF=T/0.8239,A/.,C/0.1761,G/.;PC=0.001;Gene=LCE1E/NM_178353.1/1;CC=c.318T>C;ProtCh=p.C106=;VC=Silent;DM=LCE1E/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:325:84:0:0:324,1:9661,34:1115.70,0.00:219.61,0.00:896.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:99.9,0.0:0,0:0,0:106,124:45,27:25,0:NM_178353.1(LCE1E) c.318T>C (p.(=)),NM_178353.1(LCE1E) c.318T>C (p.(=)):0.23,0.23:0.03967,0.03967 1 152760096 rs115864544 A T 1157 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=315;DB;DBA=NA;PAF=A/0.8239,C/.,G/.,T/0.1761;PC=1.000;Gene=LCE1E/NM_178353.1/1;CC=c.321A>T;ProtCh=p.G107=;VC=Silent;DM=LCE1E/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:315:75:0:0:1,1,313:28,7,10107:0.00,0.01,1156.59:0.00,-0.00,190.69:0.00,0.01,965.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,60:24.0,15.0,99.4:0,0,0:0,0,0:147,0,103:4,151,48:0,0,25:NM_178353.1(LCE1E) c.321A>T (p.(=)),NM_178353.1(LCE1E) c.321A>T (p.(=)):0.23,0.23:0.048387,0.048387 1 152760133 . A . . NT END=152770270;NT GT ./. 1 152760352 rs61814474 T A 62 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=LCE1E/NM_178353.1/1;CC=c.*220T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:25:1:0:0:20,5:584,142:62.50,0.00:1.84,0.00:60.66,0.00:1.00,0.00:0.87,0.00:1.00,0.00:56,57:43.6,10.0:0,0:0,0:122,55:28,96:19,13:NM_178353.1(LCE1E) c.*220T>A,-:0.24,-:NOT_FOUND,- 1 152770521 rs41268492 G A 951 lc VT=SNV;PN=C;NN=C;SST=Single;DP=529;DB;DBA=NA;PAF=G/0.6627,A/0.3373;Gene=LCE1D/NM_178352.2/1;CC=c.251G>A;ProtCh=p.R84H;VC=Missense;DM=LCE1D/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:529:308:0:0:309,217,3:9586,7010,34:951.20,0.00,-0.30:446.21,0.00,-0.08:504.99,0.00,-0.21:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:80.9,17.9,70.3:0,0,0:0,0,0:70,82,60:75,68,89:42,36,30:NM_178352.2(LCE1D) c.251G>A (p.Arg84His),-:0.32,-:0.2129,- 1 152770533 rs41268494 G A 644 lc VT=SNV;PN=A;NN=C;SST=Single;DP=515;DB;DBA=NA;PAF=NA;PC=0.947;Gene=LCE1D/NM_178352.2/1;CC=c.263G>A;ProtCh=p.S88N;VC=Missense;DM=LCE1D/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:515:287:0:0:227,1,287:6894,8,9667:644.25,-0.24,0.00:221.60,-0.09,0.00:422.65,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,57,60:83.4,67.0,35.6:0,0,0:0,0,0:88,144,66:60,6,74:36,0,37:NM_178352.2(LCE1D) c.263G>A (p.Ser88Asn),-:0.2,-:0.119076,- 1 152770589 rs11485496 A G 802 lc VT=SNV;PN=C;NN=G;SST=Single;DP=410;DB;DBA=NA;PAF=NA;Gene=LCE1D/NM_178352.2/1;CC=c.319A>G;ProtCh=p.S107G;VC=Missense;DM=LCE1D/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:410:174:0:0:148,1,260,1:4983,6,7945,10:0.00,-0.12,801.54,-0.11:0.00,-0.03,234.09,-0.03:0.00,-0.10,567.45,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,54,60,12:29.7,146.0,72.1,143.0:0,0,0,0:0,0,0,0:98,121,80,98:49,26,68,40:30,0,29,0:-,NM_178352.2(LCE1D) c.319A>G (p.Ser107Gly):-,0.35:-,0.264803 1 152770613 rs41268500 T G 304 lc VT=SNV;PN=C;NN=G;SST=Single;DP=344;DB;DBA=NA;PAF=T/0.9419,G/0.05811;PC=0.938;Gene=LCE1D/NM_178352.2/1;CC=c.343T>G;ProtCh=p.*115Gext*4;VC=Readthrough GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:344:136:0:0:110,234:3450,7966:303.83,0.00:52.94,0.00:250.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,71.8:0,0:0,0:101,101:50,44:27,23:NM_178352.2(LCE1D) c.343T>G (p.*115Glyfs*?),-:0.05,-:0.046744,- 1 152770616 . A . . NT END=152777597;NT GT ./. 1 152770828 rs115138530 A G 70 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:0:0:0:19:609:69.91:0.00:69.91:1.00:0.00:1.00:49:36.4:0:0:113:37:30:chr1 g.152770827A>G (intergenic),chr1 g.152770827A>G (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 1 152777341 rs4845487 C T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7887,T/0.2113;Gene=LCE1C/NM_001276331.1/1;CC=c.*257G>A;VC=3UTR;Gene=LCE1C/NM_178351.3/0;CC=c.*257G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:10:10:0:0:6,4:192,130:0.00,11.99:0.00,11.99:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:20.2,51.0:0,0:0,0:35,22:114,128:22,20:-,NM_178351.3(LCE1C) c.*257G>A:-,0.2:-,NOT_FOUND 1 152777574 rs1048534 G A 289 nt VT=SNV;PN=T;NN=C;SST=Single;DP=192;DB;DBA=NA;PAF=G/0.8003,A/0.1997;Gene=LCE1C/NM_001276331.1/1;CC=c.*24C>T;VC=3UTR;Gene=LCE1C/NM_178351.3/0;CC=c.*24C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:192:179:0:0:98,1,93:2998,11,3027:289.02,-0.13,0.00:231.06,-0.17,0.00:57.96,0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,48.0,10.9:0,0,0:0,0,0:50,19,42:98,132,107:26,0,30:NM_178351.3(LCE1C) c.*24C>T,-:0.19,-:0.120769,- 1 152777908 rs2006940 C T 393 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=343;DB;DBA=NA;PAF=C/0.7794,T/0.2206;PC=0.984;Gene=LCE1C/NM_001276331.1/1;CC=c.44+3G>A;VC=Intergenic;Gene=LCE1C/NM_178351.3/0;CC=c.47G>A;ProtCh=p.C16Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:343:207:0:0:1,193,2,147:12,6078,21,4238:-0.20,0.00,-0.35,392.79:-0.12,0.00,-0.19,187.53:-0.08,0.00,-0.16,205.25:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:53,60,60,60:86.0,22.4,64.0,52.5:0,0,0,0:0,0,0,0:113,69,55,65:-6,69,74,70:0,37,7,32:-,NM_178351.3(LCE1C) c.47G>A (p.Cys16Tyr):-,0.21:-,0.142648 1 152777955 . C . . NT END=152784922;NT GT ./. 1 152778118 rs35436039 G A 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7414,A/0.2586;Gene=LCE1C/NM_001276331.1/1;CC=c.-20-144C>T;VC=Intron;Gene=LCE1C/NM_178351.3/0;CC=c.-20-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:0:0:0:32,27:979,834:95.40,0.00:0.00,0.00:95.40,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.7,11.3:0,0:0,0:104,123:46,28:29,25:NM_178351.3(LCE1C) c.-20-144C>T,-:0.28,-:NOT_FOUND,- 1 152785280 . A . . NT END=152799948;NT GT ./. 1 152800124 rs137886860 G T 596 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=431;DB;DBA=NA;PAF=G/0.9972,T/0.002796;NP=48;PC=1.000;Gene=LCE1A/NM_178348.2/1;CC=c.176G>T;ProtCh=p.G59V;VC=Missense;DM=LCE1A/LCE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:431:307:0:0:1,1,217,212:10,10,6994,6241:-0.17,-0.17,0.00,595.62:-0.07,-0.07,0.00,315.31:-0.09,-0.09,0.00,280.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:117.0,54.0,11.4,40.3:0,0,0,0:0,0,0,0:61,107,75,74:89,16,65,72:0,0,30,32:-,NM_178348.2(LCE1A) c.176G>T (p.Gly59Val):-,0.0023:-,0.004844 1 152800282 . A . . NT END=152815996;NT GT ./. 1 152816240 . G . . NT END=152856898;NT GT ./. 1 152857250 . G . . NT END=152882273;NT GT ./. 1 152882952 rs11807064 G C 136 lc VT=SNV;PN=A;NN=A;SST=Single;DP=721;DB;DBA=NA;PAF=NA;Gene=IVL/NM_005547.2/1;CC=c.679G>C;ProtCh=p.E227Q;VC=Missense;DM=IVL/Involucrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:721:426:0:0:6,72,642,1:71,2022,19261,15:-1.42,136.29,0.00,-0.24:-0.62,119.64,0.00,-0.12:-0.80,16.65,0.00,-0.12:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,1:129.5,132.5,50.3,110.0:0,0,0,0:0,0,0,0:75,31,69,1:59,117,72,93:47,16,32,0:NM_005547.2(IVL) c.679G>C (p.Glu227Gln),-:0.0041,-:NOT_FOUND,- 1 152882979 rs17855670 C T 210 lc VT=SNV;PN=C;NN=C;SST=Single;DP=726;DB;DBA=NA;PAF=NA;Gene=IVL/NM_005547.2/1;CC=c.706C>T;ProtCh=p.P236S;VC=Missense;DM=IVL/Involucrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:726:403:0:0:5,613,7,101:69,17788,79,2878:-0.84,0.00,-1.61,210.33:-0.42,0.00,-0.64,174.32:-0.41,0.00,-0.98,36.01:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:128.6,47.5,112.7,129.0:0,0,0,0:0,0,0,0:103,79,78,46:47,61,71,97:1,31,33,23:-,NM_005547.2(IVL) c.706C>T (p.Pro236Ser):-,0.06:-,NOT_FOUND 1 152882981 rs62637699 A T 211 lc VT=SNV;PN=C;NN=C;SST=Single;DP=730;DB;DBA=NA;PAF=NA;Gene=IVL/NM_005547.2/1;CC=c.708A>T;ProtCh=p.P236=;VC=Silent;DM=IVL/Involucrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:730:406:0:0:602,4,21,103:17243,33,292,2880:0.00,-1.13,5.01,210.67:0.00,-0.40,1.60,173.25:0.00,-0.73,3.41,37.42:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:46.0,94.0,120.4,128.8:0,0,0,0:0,0,0,0:81,63,78,48:59,66,69,90:30,18,29,25:-,NM_005547.2(IVL) c.708A>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 152882982 rs7520711 C G 511 lc VT=SNV;PN=A;NN=A;SST=Single;DP=723;DB;DBA=NA;PAF=C/0.5757,G/0.4243;Gene=IVL/NM_005547.2/1;CC=c.709C>G;ProtCh=p.Q237E;VC=Missense;DM=IVL/Involucrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:723:396:0:0:11,490,218,4:124,13455,5963,47:-0.72,0.00,510.62,-0.68:-1.18,0.00,228.44,-0.56:0.46,0.00,282.18,-0.12:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:103.4,39.0,104.5,94.5:0,0,0,0:0,0,0,0:51,82,63,68:88,57,82,65:30,33,24,15:-,NM_005547.2(IVL) c.709C>G (p.Gln237Glu):-,0.45:-,NOT_FOUND 1 152883056 rs45609438 A G 116 lc VT=SNV;PN=G;NN=C;SST=Single;DP=672;DB;DBA=NA;PAF=NA;Gene=IVL/NM_005547.2/1;CC=c.783A>G;ProtCh=p.G261=;VC=Silent;DM=IVL/Involucrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:672:383:0:0:583,5,82,2:16417,67,1822,23:0.00,-0.26,115.52,-0.66:0.00,-0.75,62.99,-0.23:0.00,0.49,52.53,-0.44:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:47.5,88.8,99.7,74.5:2,0,0,0:0,0,0,0:73,62,108,96:67,89,23,48:39,18,31,29:-,NM_005547.2(IVL) c.783A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 152884032 . C . . NT END=152944366;NT GT ./. 1 152884226 rs41272534 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.991,G/0.008986;Gene=IVL/NM_005547.2/1;CC=c.*195A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,G:8:0:0:0:4,4:128,139:0.00,13.40:0.00,0.00:0.00,13.40:0.00,0.87:0.00,0.00:0.00,0.87:60,60:22.8,34.8:0,0:0,0:97,63:54,87:12,13:-,NM_005547.2(IVL) c.*195A>G:-,0.01:-,NOT_FOUND 1 152917087 rs371454443 ATG A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=16;PC=0.085;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:ATG,A:4:3:0:2:2,2:66,66:0.00,6.35:0.00,4.86:0.00,1.49:0.00,0.51:0.00,0.89:0.00,0.79:60,70:65.5,30.0:0,0:0,0:91,73:49,43:9,42:-,chr1 g.152917088_152917089delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 152917112 rs202115198 T C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=14;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:3:0:0:3,2:100,69:9.97,0.00:7.21,0.00:2.76,0.00:0.78,0.00:0.94,0.00:0.94,0.00:70,60:63.7,42.0:0,0:0,0:125,35:24,72:13,18:chr1 g.152917111T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 152917120 rs112260225 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=368;PC=0.778 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:5:3:0:0:1,4:31,126:0.00,13.42:0.00,6.11:0.00,7.31:0.00,0.96:0.00,0.99:0.00,0.99:60,70:0.0,68.8:0,0:0,0:62,124:20,16:0,15:-,chr1 g.152917119C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 152944054 rs372277688 TCA T 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=9;Gene=SPRR4/NM_173080.2/1;CC=c.-20-259_-20-258delAC;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:TCA,T:5:6:0:4:2,3:71,135:0.00,10.03:0.00,8.54:0.00,1.49:0.00,0.73:0.00,0.73:0.00,0.89:60,60:6.0,16.7:0,1:0,0:116,53:14,97:9,12:-,NM_173080.1(SPRR4) c.-20-292_-20-291delCA:-,NOT_FOUND:-,NOT_FOUND 1 152944156 rs6671520 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7997,T/0.2003;Gene=SPRR4/NM_173080.2/1;CC=c.-20-191C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:18:17:0:0:13,5:433,136:0.00,11.36:0.00,9.89:0.00,1.47:0.00,0.87:0.00,0.99:0.00,0.57:60,60:1.3,68.8:0,0:0,0:40,51:111,100:23,31:-,NM_173080.1(SPRR4) c.-20-191C>T:-,0.24:-,NOT_FOUND 1 152944231 . G A 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;Gene=SPRR4/NM_173080.2/1;CC=c.-20-116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:39:0:0:16,25:522,775:47.94,0.00:41.89,0.00:6.05,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:49.4,5.0:0,0:0,0:52,37:98,114:30,32:NM_173080.1(SPRR4) c.-20-116G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 152944594 rs3170863 C T 118 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.3748,T/0.6252;PC=0.996;Gene=SPRR4/NM_173080.2/1;CC=c.228C>T;ProtCh=p.S76=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:108:51:0:0:65,1,42:2121,12,1293:0.00,-0.11,118.19:0.00,-0.08,43.01:0.00,-0.03,75.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.8,149.0,46.4:0,0,0:0,0,0:93,63,87:58,85,59:33,0,29:-,NM_173080.1(SPRR4) c.=:-,0.64:-,0.641012 1 152944607 . G . . NT END=152957706;NT GT ./. 1 152957573 rs1611760 T C 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4117,C/0.5883;Gene=SPRR1A/NM_001199828.1/1;CC=c.-33-101T>C;VC=Intron;Gene=SPRR1A/NM_005987.3/0;CC=c.-19-115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:40:39:0:0:12,1,27:360,9,721:31.28,-0.12,0.00:28.72,-0.12,0.00:2.55,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.53,0.00,0.00:60,60,60:52.0,167.0,11.7:0,0,0:0,0,0:37,103,50:113,48,98:20,0,25:NM_001199828.1(SPRR1A) c.-33-101T>C,-:0.61,-:NOT_FOUND,- 1 152957832 rs1611762 C A 428 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=307;DB;DBA=NA;PAF=C/0.4946,A/0.5054;PC=0.619;Gene=SPRR1A/NM_001199828.1/1;CC=c.126C>A;ProtCh=p.H42Q;VC=Missense;Gene=SPRR1A/NM_005987.3/0;CC=c.126C>A;ProtCh=p.H42Q;VC=Missense;DM=SPRR1A/Cornifin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:307:224:0:0:146,161:4506,5231:427.89,0.00:265.24,0.00:162.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.5,12.8:0,0:0,0:72,67:75,81:36,36:NM_001199828.1(SPRR1A) c.126C>A (p.His42Gln),-:0.54,-:NOT_FOUND,- 1 152957887 rs1611764 G A 410 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=284;DB;DBA=NA;PAF=NA;PC=0.045;Gene=SPRR1A/NM_001199828.1/1;CC=c.181G>A;ProtCh=p.V61I;VC=Missense;Gene=SPRR1A/NM_005987.3/0;CC=c.181G>A;ProtCh=p.V61I;VC=Missense;DM=SPRR1A/Cornifin;DM=SPRR1A/Cornifin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:284:195:0:0:137,146,1:4294,4687,25:409.52,0.00,0.43:222.26,0.00,0.56:187.25,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,54:63.2,12.6,115.0:0,0,0:0,0,0:82,77,105:63,73,45:28,35,0:NM_001199828.1(SPRR1A) c.181G>A (p.Val61Ile),-:0.58,-:0.575042,- 1 152957977 . T . . NT END=152975496;NT GT ./. 1 152958238 rs1129654 A G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4119,G/0.5881;Gene=SPRR1A/NM_001199828.1/1;CC=c.*262A>G;VC=3UTR;Gene=SPRR1A/NM_005987.3/0;CC=c.*262A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,G:11:0:0:0:4,7:141,220:0.00,22.20:0.00,0.00:0.00,22.20:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.8,75.7:0,0:0,0:117,92:34,59:7,17:-,NM_001199828.1(SPRR1A) c.*262A>G:-,0.61:-,NOT_FOUND 1 152958267 rs1129655 T C 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3916,C/0.6084;Gene=SPRR1A/NM_001199828.1/1;CC=c.*291T>C;VC=3UTR;Gene=SPRR1A/NM_005987.3/0;CC=c.*291T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T:9:0:0:0:6,3:209,94:21.27,0.00:0.00,0.00:21.27,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:83.0,3.7:0,0:0,0:121,144:30,7:11,4:NM_001199828.1(SPRR1A) c.*291T>C,-:0.63,-:NOT_FOUND,- 1 152975241 rs2879488 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.475,A/0.525;PC=0.009;Gene=SPRR3/NM_001097589.1/0;CC=c.-19-237G>A;VC=Intron;Gene=SPRR3/NM_005416.2/1;CC=c.-20+79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:13:13:0:0:4,9:134,272:11.83,0.00:11.83,0.00:0.00,0.00:0.79,0.00:0.79,0.00:0.00,0.00:60,60:71.2,23.7:0,0:0,0:24,42:126,108:14,15:NM_005416.2(SPRR3) c.-20+79G>A,-:0.56,-:NOT_FOUND,- 1 152975277 rs2339493 G A 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.475,A/0.525;Gene=SPRR3/NM_001097589.1/0;CC=c.-19-201G>A;VC=Intron;Gene=SPRR3/NM_005416.2/1;CC=c.-20+115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:17:17:0:0:6,1,10:207,11,310:18.96,0.21,0.00:18.96,0.21,0.00:0.00,0.00,0.00:0.95,0.00,0.00:0.95,0.00,0.00:0.00,0.00,0.00:60,60,60:74.2,195.0,0.0:0,0,0:0,0,0:46,63,66:104,86,83:28,0,29:NM_005416.2(SPRR3) c.-20+115G>A,-:0.56,-:NOT_FOUND,- 1 152975495 rs2075739 G A 243 nt VT=SNV;PN=A;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=G/0.475,A/0.525;PC=0.955;Gene=SPRR3/NM_001097589.1/0;CC=c.-2G>A;VC=5UTR;Gene=SPRR3/NM_005416.2/1;CC=c.-2G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:155:139:0:0:80,75:2519,2475:243.41,0.00:196.56,0.00:46.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,7.8:0,0:0,0:55,52:94,82:34,37:NM_005416.2(SPRR3) c.-2G>A,-:0.55,-:0.537214,- 1 152975715 rs28989168 C T 212 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=404;DB;DBA=NA;PAF=C/0.9996,A/.,T/0.0003994;Gene=SPRR3/NM_001097589.1/0;CC=c.219C>T;ProtCh=p.G73=;VC=Silent;Gene=SPRR3/NM_005416.2/1;CC=c.219C>T;ProtCh=p.G73=;VC=Silent;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:404:266:0:0:4,309,91:61,10061,2620:0.70,0.00,212.41:-0.73,0.00,92.26:1.42,0.00,120.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:96.5,27.2,68.2:0,0,0:0,0,0:68,57,109:80,85,41:33,34,17:-,NM_005416.2(SPRR3) c.219C>T (p.(=)):-,0.3:-,NOT_FOUND 1 152975739 rs17851565 T A 151 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=406;DB;DBA=NA;PAF=NA;Gene=SPRR3/NM_001097589.1/0;CC=c.243T>A;ProtCh=p.G81=;VC=Silent;Gene=SPRR3/NM_005416.2/1;CC=c.243T>A;ProtCh=p.G81=;VC=Silent;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:406:245:0:0:67,20,319:1958,281,8863:150.78,7.43,0.00:41.26,2.10,0.00:109.53,5.33,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:86.8,59.2,31.6:0,0,0:0,0,0:120,52,60:28,98,83:14,33,31:NM_005416.2(SPRR3) c.243T>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 152975763 rs1977734 C A 310 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=410;DB;DBA=NA;PAF=C/0.4754,A/0.5246,T/.;Gene=SPRR3/NM_001097589.1/0;CC=c.267C>A;ProtCh=p.G89=;VC=Silent;Gene=SPRR3/NM_005416.2/1;CC=c.267C>A;ProtCh=p.G89=;VC=Silent;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:410:221:0:0:126,250,1,33:3541,8126,9,1014:309.64,0.00,-0.20,72.09:125.31,0.00,-0.08,12.34:184.33,0.00,-0.12,59.75:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,33,60:70.0,17.6,35.0,104.6:0,0,0,0:0,0,0,0:56,80,143,135:89,64,7,16:21,34,0,8:NM_005416.2(SPRR3) c.267C>A (p.(=)),-:0.51,-:0.536835,- 1 152975829 rs1970328 A G 485 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=344;DB;DBA=NA;PAF=A/0.475,G/0.525;Gene=SPRR3/NM_001097589.1/0;CC=c.333A>G;ProtCh=p.E111=;VC=Silent;Gene=SPRR3/NM_005416.2/1;CC=c.333A>G;ProtCh=p.E111=;VC=Silent;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:344:167:0:0:190,153,1:5877,5145,11:0.00,484.93,-0.21:0.00,166.60,-0.09:0.00,318.33,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.6,70.0,114.0:0,0,0:0,0,0:86,102,16:63,48,135:30,29,0:-,NM_005416.2(SPRR3) c.333A>G (p.(=)):-,0.55:-,0.537137 1 152975941 rs1055935 C G 255 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=196;DB;DBA=NA;PAF=C/0.4165,G/0.5835;PC=0.001;Gene=SPRR3/NM_001097589.1/0;CC=c.445C>G;ProtCh=p.L149V;VC=Missense;Gene=SPRR3/NM_005416.2/1;CC=c.445C>G;ProtCh=p.L149V;VC=Missense;DM=SPRR3/Cornifin;DM=SPRR3/Cornifin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:196:80:0:0:1,109,85,1:9,3626,2727,12:-0.20,0.00,255.48,-0.15:-0.07,0.00,66.22,-0.07:-0.12,0.00,189.26,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:99.0,9.1,48.7,12.0:0,0,0,0:0,0,0,0:133,97,63,15:18,50,84,136:0,31,37,0:-,NM_005416.2(SPRR3) c.445C>G (p.Leu149Val):-,0.6:-,0.591881 1 152976007 . T . . NT END=153004821;NT GT ./. 1 152976108 rs1015996 C T 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.475,T/0.525;Gene=SPRR3/NM_001097589.1/0;CC=c.*102C>T;VC=3UTR;Gene=SPRR3/NM_005416.2/1;CC=c.*102C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:7:0:0:23,20:756,552:0.00,51.78:0.00,9.78:0.00,42.01:0.00,1.00:0.00,0.98:0.00,1.00:60,60:14.0,64.6:0,0:0,0:94,126:57,19:29,16:-,NM_005416.2(SPRR3) c.*102C>T:-,0.55:-,NOT_FOUND 1 152976114 rs1015995 G C 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.475,C/0.525;Gene=SPRR3/NM_001097589.1/0;CC=c.*108G>C;VC=3UTR;Gene=SPRR3/NM_005416.2/1;CC=c.*108G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:7:0:0:19,20:497,671:46.86,0.00:9.76,0.00:37.10,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:65.3,8.5:0,0:0,0:127,98:23,53:19,23:NM_005416.2(SPRR3) c.*108G>C,-:0.55,-:NOT_FOUND,- 1 152996419 rs10788851 A G 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.003594,G/0.9964;NP=3460;PC=0.696 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:8:0:0:10:293:34.01:21.49:12.52:1.00:1.00:1.00:60:37.0:0:0:33:117:23:NM_003125.2(SPRR1B) c.-64-u7260A>G,NM_003125.2(SPRR1B) c.-64-u7260A>G:1,1:NOT_FOUND,NOT_FOUND 1 153005092 . T . . NT END=153012603;NT GT ./. 1 153012823 . C . . NT END=153028992;NT GT ./. 1 153029212 . C . . NT END=153043096;NT GT ./. 1 153043316 . C . . NT END=153066008;NT GT ./. 1 153066228 . C . . NT END=153084990;NT GT ./. 1 153085210 . C . . NT END=153122364;NT GT ./. 1 153122587 . C . . NT END=153177183;NT GT ./. 1 153169522 rs1831238 G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5577,A/0.4423 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:4:4:0:0:2,2:69,60:6.65,0.00:6.80,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:51.0,0.0:0,0:0,0:48,30:100,121:30,17:NM_001010857.1(LELP1) c.-110-u6397G>A,-:0.45,-:NOT_FOUND,- 1 153177481 . G . . NT END=153190620;NT GT ./. 1 153190972 . C . . NT END=153233425;NT GT ./. 1 153228203 rs71093267 T TCACACA 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=19;NP=2;NP=4;PC=0.002;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,T,TCACACA:5:2:3:0:1,1,3:33,34,68:2.98,0.00,6.95:-0.10,0.00,3.16:3.08,0.00,3.80:0.00,0.00,0.78:0.00,0.00,0.87:0.00,0.00,0.94:60,60,60:42.0,0.0,0.0:1,0,0:0,0,0:46,104,54:105,42,97:0,0,22:-,NM_000427.2(LOR) c.-54-u3976_-54-u3975insCACACA:-,NOT_FOUND:-,NOT_FOUND 1 153233510 rs6661601 A G 970 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=282;DB;DBA=NA;PAF=A/0.8179,G/0.1821;PC=0.518;Gene=LOR/NM_000427.2/1;CC=c.85A>G;ProtCh=p.S29G;VC=Missense;DM=LOR/Loricrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:282:240:0:3:2,279,1:46,8429,14:0.00,969.95,0.11:0.00,649.80,0.11:0.00,320.15,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:36.0,51.1,145.0:0,0,0:0,0,0:101,54,61:6,95,72:37,26,0:NM_000427.2(LOR) c.85A>G (p.Ser29Gly),NM_000427.2(LOR) c.85A>G (p.Ser29Gly):0.22,0.22:NOT_FOUND,NOT_FOUND 1 153233991 rs561634896 A ACTCTGGCGGCGG 447 PASS VT=INS;SST=Single;DP=335;DB;DBA=NA;PAF=A/0.3516,ACTCTGGCGGCGG/0.6484;DB;DBA=NA;PAF=A/0.3516,ACTCTGGCGGCCG/.,ACTCTGGCGGCGG/0.6484;NP=1;NP=2;PC=0.011;Gene=LOR/NM_000427.2/1;CC=c.585_586insGGCGGCTCTGGC;ProtCh=p.G195_C196insGGSG;VC=InFrameIns;DM=LOR/Loricrin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,ACTCTGGCGGCGG:335:185:152:0:166,4,13,152:4552,54,309,4699:0.00,0.69,17.01,446.82:0.00,1.11,0.31,167.44:0.00,-0.42,16.70,279.38:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:37.9,53.2,58.1,12.9:6,1,1,0:0,0,0,0:120,102,93,63:21,21,56,84:18,25,12,19:-,NM_000427.2(LOR) c.574_585dupGGCGGCTCTGGC (p.Gly192_Gly195dup):-,NOT_FOUND:-,0.597294 1 153234011 rs142603426 T G 178 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=350;DB;DBA=NA;PAF=NA;PC=0.977;Gene=LOR/NM_000427.2/1;CC=c.586T>G;ProtCh=p.C196G;VC=Missense;DM=LOR/Loricrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:350:160:0:0:4,78,268:85,2211,8310:2.52,178.31,0.00:0.66,42.89,0.00:1.86,135.42,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:49.5,49.3,22.1:0,0,0:0,0,0:82,135,81:69,6,68:34,8,31:NM_000427.2(LOR) c.586T>G (p.Cys196Gly),-:0.18,-:NOT_FOUND,- 1 153234365 . A . . NT END=153270431;NT GT ./. 1 153234602 rs11205255 T C 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.2927,C/0.7073;PC=0.096 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:0:0:0:16:515:59.11:0.00:59.11:1.00:0.00:1.00:60:43.6:0:0:124:24:16:chr1 g.153234601T>C (intergenic),chr1 g.153234601T>C (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 1 153270611 . C . . NT END=153271588;NT GT ./. 1 153271621 rs34391119 G A 83 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9922,A/0.007788;PC=0.464;Gene=PGLYRP3/NM_052891.2/1;CC=c.815C>T;ProtCh=p.A272V;VC=Missense;DM=PGLYRP3/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:70:56:0:0:29,1,39,1:889,9,1231,9:82.58,-0.13,0.00,-0.13:56.41,-0.13,0.00,-0.02:26.17,-0.00,0.00,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:35.6,97.0,10.9,65.0:0,0,0,0:0,0,0,0:48,70,42,43:90,81,101,107:35,0,20,0:NM_052891.1(PGLYRP3) c.815C>T (p.Ala272Val),-:0.01,-:0.01976,- 1 153271708 . C . . NT END=153274884;NT GT ./. 1 153275084 . C . . NT END=153276332;NT GT ./. 1 153276486 . C . . NT END=153277422;NT GT ./. 1 153277083 rs5777856 G GAAGA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.008586,GAAAGA/.,GAAGA/0.9914;NP=136;Gene=PGLYRP3/NM_052891.2/1;CC=c.376+339_376+340insTCTT;VC=Intron;DM=PGLYRP3/Amidase_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GAAGA:4:4:4:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:0.0:0:0:50:99:7:NM_052891.1(PGLYRP3) c.376+339_376+340insTCTT,NM_052891.1(PGLYRP3) c.376+339_376+340insTCTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 153277423 rs843971 C T 103 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.5302,T/0.4698;PC=0.977;Gene=PGLYRP3/NM_052891.2/1;CC=c.376G>A;ProtCh=p.G126S;VC=Missense;DM=PGLYRP3/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:60:52:0:0:28,1,31:854,5,1060:0.00,-0.17,103.09:0.00,-0.09,81.10:0.00,-0.08,21.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.3,44.0,39.8:0,0,0:0,0,0:31,86,26:110,65,124:21,0,19:-,NM_052891.1(PGLYRP3) c.376G>A (p.Gly126Ser):-,0.45:-,0.384899 1 153277542 . C . . NT END=153279541;NT GT ./. 1 153277660 rs2771112 A T 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4281,T/0.5719;Gene=PGLYRP3/NM_052891.2/1;CC=c.258-119T>A;VC=Intron;DM=PGLYRP3/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,T:15:0:0:0:4,11:129,332:0.00,34.63:0.00,0.00:0.00,34.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.0,44.5:0,0:0,0:86,107:65,44:51,29:-,NM_052891.1(PGLYRP3) c.258-119T>A:-,0.54:-,NOT_FOUND 1 153279462 rs66966700 TAAG T 139 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=TAAG/0.2095,T/0.7905;DB;DBA=NA;PAF=TAAG/0.2095,T/0.7905;NP=2744;Gene=PGLYRP3/NM_052891.2/1;CC=c.257+77_257+79delCTT;VC=Intron;DM=PGLYRP3/Amidase_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:TAAG,T:39:39:0:38:1,38:34,1229:0.00,138.99:0.00,132.35:0.00,6.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,3.3:0,0:0,0:139,42:2,108:0,23:NM_052891.1(PGLYRP3) c.257+77_257+79delCTT,NM_052891.1(PGLYRP3) c.257+77_257+79delCTT:0.8,0.8:NOT_FOUND,NOT_FOUND 1 153279744 . C . . NT END=153283086;NT GT ./. 1 153283004 rs821423 C T 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.156,T/0.844;Gene=PGLYRP3/NM_052891.2/1;CC=c.55+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:506:58.63:55.05:3.58:1.00:1.00:1.00:60:49.2:0:0:69:81:12:NM_052891.1(PGLYRP3) c.55+83G>A,NM_052891.1(PGLYRP3) c.55+83G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 153283142 . G . . NT END=153303242;NT GT ./. 1 153283179 rs3006473 A G 86 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.6745,G/0.3255;Gene=PGLYRP3/NM_052891.2/1;CC=c.-38T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:33:0:0:25,29:881,883:0.00,85.88:0.00,22.94:0.00,62.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,47.9:0,0:0,0:88,116:59,28:17,20:-,NM_052891.1(PGLYRP3) c.-38T>C:-,0.35:-,0.424727 1 153283313 rs41264636 T A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.9918,A/0.008187 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,T:10:0:0:0:5,5:159,141:15.29,0.00:0.00,0.00:15.29,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:40.8,49.2:0,0:0,0:122,124:29,27:24,25:NM_052891.1(PGLYRP3) c.-53-u119A>T,-:0.01,-:NOT_FOUND,- 1 153303422 . C . . NT END=153309656;NT GT ./. 1 153303638 rs2987767 A G 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6524,G/0.3476;Gene=PGLYRP4/NM_020393.3/1;CC=c.944-217T>C;VC=Intron;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:259:29.71:0.00:29.71:1.00:0.00:1.00:60:61.9:0:0:104:47:15:NM_020393.2(PGLYRP4) c.944-217T>C,NM_020393.2(PGLYRP4) c.944-217T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 153309776 . C . . NT END=153312856;NT GT ./. 1 153309981 rs12139503 G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6931,A/0.3069;Gene=PGLYRP4/NM_020393.3/1;CC=c.825-206C>T;VC=Intron;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,G:8:0:0:0:4,4:106,139:10.06,0.00:0.00,0.00:10.06,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:34.5,0.0:0,0:0,0:121,100:29,48:7,17:NM_020393.2(PGLYRP4) c.825-206C>T,-:0.34,-:NOT_FOUND,- 1 153312644 rs2771122 A G 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.07248,G/0.9275;Gene=PGLYRP4/NM_020393.3/1;CC=c.824+213T>C;VC=Intron;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:303:35.07:35.07:0.00:1.00:1.00:0.00:60:43.1:0:0:18:132:10:NM_020393.2(PGLYRP4) c.824+213T>C,NM_020393.2(PGLYRP4) c.824+213T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 153313056 . C . . NT END=153314102;NT GT ./. 1 153313912 rs3014859 A G 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2055,G/0.7945;PC=0.001;Gene=PGLYRP4/NM_020393.3/1;CC=c.625+191T>C;VC=Intron;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:15:0:0:15:449:52.00:52.00:0.00:1.00:1.00:0.00:60:42.6:0:0:52:99:35:NM_020393.2(PGLYRP4) c.625+191T>C,NM_020393.2(PGLYRP4) c.625+191T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 153314153 rs3006448 C A 375 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.1556,A/0.8444,G/.;PC=0.976;Gene=PGLYRP4/NM_020393.3/1;CC=c.575G>T;ProtCh=p.G192V;VC=Missense;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:101:71:0:0:101:3268:374.90:190.50:184.40:1.00:1.00:1.00:60:44.3:0:0:71:76:32:NM_020393.2(PGLYRP4) c.575G>T (p.Gly192Val),NM_020393.2(PGLYRP4) c.575G>T (p.Gly192Val):0.85,0.85:0.823851,0.823851 1 153314256 . C . . NT END=153315565;NT GT ./. 1 153314347 rs3006449 C T 114 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.2055,T/0.7945;Gene=PGLYRP4/NM_020393.3/1;CC=c.473-92G>A;VC=Intron;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:T:33:7:0:0:33:988:114.32:16.55:97.78:1.00:1.00:1.00:60:34.4:0:0:106:45:27:NM_020393.2(PGLYRP4) c.473-92G>A,NM_020393.2(PGLYRP4) c.473-92G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 153314534 rs3006450 C A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2059,A/0.7941;Gene=PGLYRP4/NM_020393.3/1;CC=c.473-279G>T;VC=Intron;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:49.8:0:0:55:94:36:NM_020393.2(PGLYRP4) c.473-279G>T,NM_020393.2(PGLYRP4) c.473-279G>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 153315467 rs5777858 T TAAG 71 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.07228,TAAG/0.9277;DB;DBA=NA;PAF=T/0.07228,TAAG/0.9277;NP=3297;PC=0.001;Gene=PGLYRP4/NM_020393.3/1;CC=c.472+96_472+98dupCTT;VC=Intron;DM=PGLYRP4/Amidase_2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:TAAG:19:19:19:0:19:623:71.36:71.36:0.00:1.00:1.00:0.00:60:9.0:0:0:59:91:23:NM_020393.2(PGLYRP4) c.472+98_472+99insCTT,NM_020393.2(PGLYRP4) c.472+98_472+99insCTT:0.92,0.92:NOT_FOUND,NOT_FOUND 1 153315579 rs3014863 A G 255 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.07288,G/0.9271;PC=0.025;Gene=PGLYRP4/NM_020393.3/1;CC=c.459T>C;ProtCh=p.F153=;VC=Silent;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:56:0:0:70:2215:254.83:158.93:95.90:1.00:1.00:1.00:70:35.7:0:0:39:110:19:NM_020393.2(PGLYRP4) c.=,NM_020393.2(PGLYRP4) c.=:0.92,0.92:0.933415,0.933415 1 153315685 . C . . NT END=153317644;NT GT ./. 1 153315784 rs1865234 T C 93 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.07188,C/0.9281;Gene=PGLYRP4/NM_020393.3/1;CC=c.354-100A>G;VC=Intron;DM=PGLYRP4/Amidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:1:0:0:26:808:93.14:2.98:90.17:1.00:1.00:1.00:60:36.1:0:0:93:57:35:NM_020393.2(PGLYRP4) c.354-100A>G,NM_020393.2(PGLYRP4) c.354-100A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 153317859 . C . . NT END=153318577;NT GT ./. 1 153318008 rs2288990 C G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7562,G/0.2438;Gene=PGLYRP4/NM_020393.3/1;CC=c.140-150G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,G:13:0:0:0:9,4:255,137:0.00,12.13:0.00,0.00:0.00,12.13:0.00,0.79:0.00,0.00:0.00,0.79:60,60:32.1,34.2:0,0:0,0:95,95:56,56:26,11:-,NM_020393.2(PGLYRP4) c.140-150G>C:-,0.23:-,NOT_FOUND 1 153318668 . C . . NT END=153320359;NT GT ./. 1 153320125 rs2916208 A T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2059,T/0.7941;PC=0.031;Gene=PGLYRP4/NM_020393.3/1;CC=c.49+235T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:64.8:0:0:34:117:20:NM_020393.2(PGLYRP4) c.49+235T>A,NM_020393.2(PGLYRP4) c.49+235T>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 153320159 rs2916207 G C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1563,C/0.8437;Gene=PGLYRP4/NM_020393.3/1;CC=c.49+201C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:124:14.30:14.30:0.00:1.00:1.00:0.00:60:57.0:0:0:47:102:20:NM_020393.2(PGLYRP4) c.49+201C>G,NM_020393.2(PGLYRP4) c.49+201C>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 153320334 rs3006457 T C 145 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.1563,C/0.8437,G/.;Gene=PGLYRP4/NM_020393.3/1;CC=c.49+26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:35:0:0:38:1269:145.00:97.78:47.22:1.00:1.00:1.00:60:69.5:0:0:42:97:18:NM_020393.2(PGLYRP4) c.49+26A>G,NM_020393.2(PGLYRP4) c.49+26A>G:0.85,0.85:0.82267,0.82267 1 153320372 rs3006458 T G 212 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.2059,A/.,G/0.7941;PC=0.003;Gene=PGLYRP4/NM_020393.3/1;CC=c.37A>C;ProtCh=p.I13L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G:56:49:0:0:56:1856:212.23:115.79:96.44:1.00:1.00:1.00:60:55.1:0:0:49:97:27:NM_020393.2(PGLYRP4) c.37A>C (p.Ile13Leu),NM_020393.2(PGLYRP4) c.37A>C (p.Ile13Leu):0.79,0.79:0.808242,0.808242 1 153320409 . C . . NT END=153330759;NT GT ./. 1 153320581 rs3006459 T C 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1563,C/0.8437;Gene=PGLYRP4/NM_020393.3/1;CC=c.-46-127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:243:28.10:0.00:28.10:1.00:0.00:1.00:60:37.2:0:0:118:32:22:NM_020393.2(PGLYRP4) c.-46-127A>G,NM_020393.2(PGLYRP4) c.-46-127A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 153330910 . G . . NT END=153333119;NT GT ./. 1 153333315 . G . . NT END=153346302;NT GT ./. 1 153346444 . C . . NT END=153346930;NT GT ./. 1 153347069 . C . . NT END=153362578;NT GT ./. 1 153352918 . GA G 6 rn VT=DEL;SST=Single;DP=4;NP=12;PC=0.010;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:GA,I,G:4:3:1:2:1,1,2:33,31,63:0.00,2.85,6.35:0.00,2.85,2.97:0.00,0.00,3.38:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.67:60,60,60:22.0,13.0,18.0:0,0,0:0,0,0:138,26,105:13,124,45:0,0,25:-,NM_005621.1(S100A12) c.-68-u4844delT:-,NOT_FOUND:-,NOT_FOUND 1 153362720 . C . . NT END=153362870;NT GT ./. 1 153363034 . C . . NT END=153363516;NT GT ./. 1 153363665 . A . . NT END=153390558;NT GT ./. 1 153390411 rs76205373 T A,TA 74 idl;end,nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4107,A/0.5893;NP=1;NP=2676;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,T,TA:26:26:22:0:2,2,22:61,47,669:4.76,0.00,74.17:4.76,0.00,74.17:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:30.5,24.5,13.7:0,0,0:0,0,0:0,147,33:148,2,113:0,0,23:NM_176823.3(S100A7A) c.-17-131T>A,NM_176823.3(S100A7A) c.-17-131_-17-130insA:NOT_FOUND,0.86:NOT_FOUND,NOT_FOUND 1 153390626 rs55985140 G A 240 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=G/0.9894,A/0.01058,C/.;Gene=S100A7A/NM_176823.3/1;CC=c.68G>A;ProtCh=p.R23H;VC=Missense;DM=S100A7A/S_100 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:148:116:0:0:75,73:2485,2286:239.88,0.00:145.47,0.00:94.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,7.6:0,0:0,0:80,60:65,86:37,35:NM_176823.3(S100A7A) c.68G>A (p.Arg23His),-:0.01,-:0.026142,- 1 153390700 . G . . NT END=153391620;NT GT ./. 1 153391786 . T . . NT END=153394993;NT GT ./. 1 153394996 . T . . NT END=153409533;NT GT ./. 1 153409699 . C . . NT END=153410664;NT GT ./. 1 153410822 rs10888561 C A 106 nt VT=SNV;PN=G;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.3858,A/0.6142,T/.;PC=0.005;Gene=S100A7L2/NM_001045479.1/1;CC=c.17G>T;ProtCh=p.G6V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:25:0:0:35,26:1076,847:106.16,0.00:20.02,0.00:86.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,6.2:0,0:0,0:81,100:49,50:30,25:NM_001045479.1(S100A7L2) c.17G>T (p.Gly6Val),-:0.63,-:0.667384,- 1 153410823 . C . . NT END=153412409;NT GT ./. 1 153412392 rs3006428 T G 86 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.1739,G/0.8261;Gene=S100A7L2/NM_001045479.1/1;CC=c.16+18A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:20:0:1:23:754:86.35:58.39:27.96:1.00:1.00:1.00:60:40.6:0:0:56:90:36:NM_001045479.1(S100A7L2) c.16+18A>C,NM_001045479.1(S100A7L2) c.16+18A>C:0.84,0.84:0.871879,0.871879 1 153412426 . C . . NT END=153430281;NT GT ./. 1 153430249 rs397860677 TG T 135 nt VT=DEL;SST=Single;DP=101;DB;DBA=NA;PAF=TG/0.7462,T/0.2538;DB;DBA=NA;PAF=TG/0.7462,T/0.2538;NP=1502;PC=0.005;Gene=S100A7/NM_002963.3/1;CC=c.*32delC;VC=3UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TG,T:101:91:0:46:1,54,46:12,1844,1435:-0.08,0.00,135.47:-0.17,0.00,93.77:0.09,0.00,41.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.0,4.3,11.6:0,0,0:0,0,0:36,37,41:115,110,107:0,22,28:-,NM_002963.3(S100A7) c.*29C[3]:-,0.25:-,0.189297 1 153430447 . C . . NT END=153431348;NT GT ./. 1 153431140 rs145347535 G T 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.996,T/0.003994;NP=8;Gene=S100A7/NM_002963.3/1;CC=c.141+209C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:G,T:17:17:0:0:5,12:177,355:0.00,36.69:0.00,36.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.4,64.2:0,0:0,0:85,50:65,100:10,18:-,NM_002963.3(S100A7) c.141+209C>A:-,0.0041:-,NOT_FOUND 1 153431200 rs3014836 T C 94 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.1751,C/0.8249;Gene=S100A7/NM_002963.3/1;CC=c.141+149A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:25:0:0:25:819:93.79:93.79:0.00:1.00:1.00:0.00:60:52.6:0:0:62:81:43:NM_002963.3(S100A7) c.141+149A>G,NM_002963.3(S100A7) c.141+149A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 153431406 rs3014837 C G 488 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.01657,G/0.9834;PC=0.055;Gene=S100A7/NM_002963.3/1;CC=c.84G>C;ProtCh=p.E28D;VC=Missense;DM=S100A7/S_100 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:129:92:0:0:129:4268:488.12:272.99:215.13:1.00:1.00:1.00:60:43.3:0:0:75:74:34:NM_002963.3(S100A7) c.84G>C (p.Glu28Asp),NM_002963.3(S100A7) c.84G>C (p.Glu28Asp):0.98,0.98:0.957942,0.957942 1 153431490 . C . . NT END=153507171;NT GT ./. 1 153432991 rs55668683 T A 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8526,A/0.1474;PC=0.001;Gene=S100A7/NM_002963.3/1;CC=c.-18+93A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G,T:10:10:0:0:6,1,3:192,11,94:19.54,0.50,0.00:19.54,0.50,0.00:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:60,27,60:57.0,38.0,0.0:0,0,0:0,0,0:40,99,107:111,23,44:28,0,36:NM_002963.3(S100A7) c.-18+93A>T,-:0.15,-:NOT_FOUND,- 1 153433068 rs12217109 G A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8732,A/0.1268;Gene=S100A7/NM_002963.3/1;CC=c.-18+16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:14:0:0:7,10:227,337:21.04,0.00:13.05,0.00:7.98,0.00:0.98,0.00:1.00,0.00:0.92,0.00:60,60:55.1,1.8:0,0:0,0:81,32:70,118:19,17:NM_002963.3(S100A7) c.-18+16C>T,-:0.14,-:NOT_FOUND,- 1 153507307 . C . . NT END=153507677;NT GT ./. 1 153507816 . G . . NT END=153509771;NT GT ./. 1 153509913 . C . . NT END=153512529;NT GT ./. 1 153512682 . C . . NT END=153513860;NT GT ./. 1 153513948 . C . . NT END=153514060;NT GT ./. 1 153514379 . A . . NT END=153515715;NT GT ./. 1 153515738 . T . . NT END=153516234;NT GT ./. 1 153516400 . C . . NT END=153517129;NT GT ./. 1 153517271 . G . . NT END=153520157;NT GT ./. 1 153520323 . C . . NT END=153520820;NT GT ./. 1 153520967 . C . . NT END=153533914;NT GT ./. 1 153534068 . C . . NT END=153536209;NT GT ./. 1 153536351 . C . . NT END=153580009;NT GT ./. 1 153555800 rs375341711 T C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8682,C/0.1318;NP=44;PC=0.050 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:5:4:0:0:2,3:72,81:6.70,0.00:5.19,0.00:1.51,0.00:0.91,0.00:0.87,0.00:0.80,0.00:40,60:105.5,71.3:0,0:0,0:97,128:40,21:7,5:chr1 g.153555799T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 153580169 . C . . NT END=153580474;NT GT ./. 1 153580654 . C . . NT END=153581374;NT GT ./. 1 153581592 . C . . NT END=153581653;NT GT ./. 1 153581827 . C . . NT END=153587360;NT GT ./. 1 153587499 . C . . NT END=153587710;NT GT ./. 1 153587858 . C . . NT END=153588304;NT GT ./. 1 153588335 . G . . NT END=153591370;NT GT ./. 1 153588340 rs11548103 C T 191 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.6623,T/0.3377;PC=0.002;Gene=S100A14/NM_020672.2/1;CC=c.-6G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:G,T:52:31:0:0:1,51:8,1674:0.11,191.23:0.00,73.08:0.11,118.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:82.0,43.8:0,0:0,0:29,94:122,50:0,24:NM_020672.2(S100A14) c.-6G>A,NM_020672.2(S100A14) c.-6G>A:0.34,0.34:0.405659,0.405659 1 153591515 . C . . NT END=153598795;NT GT ./. 1 153598949 . T . . NT END=153602997;NT GT ./. 1 153603139 . G . . NT END=153604173;NT GT ./. 1 153604029 rs1046379 C T 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1366,A/.,T/0.8634;Gene=S100A13/NM_001024210.1/1;CC=c.-162-442G>A;VC=Intron;Gene=S100A1/NM_006271.1/1;CC=c.142-145C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:13,8:421,246:0.00,22.35:0.00,22.35:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.4,63.2:0,0:0,0:37,62:114,88:26,28:-,NM_006271.1(S100A1) c.142-145C>T:-,0.84:-,NOT_FOUND 1 153604318 . G . . NT END=153609064;NT GT ./. 1 153609130 . G . . NT END=153610770;NT GT ./. 1 153610925 . G . . NT END=153611843;NT GT ./. 1 153611928 . G . . NT END=153614718;NT GT ./. 1 153614906 . G . . NT END=153615702;NT GT ./. 1 153615841 . G . . NT END=153617539;NT GT ./. 1 153617510 rs564826209 C CT 14 idl,rn VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=7;PC=0.002;Gene=CHTOP/NM_001206612.1/0;CC=c.545-15dupT;VC=Intron;Gene=CHTOP/NM_001244664.1/0;CC=c.220-15dupT;VC=Intron;Gene=CHTOP/NM_001317077/0;CC=c.404-15dupT;VC=Intron;Gene=CHTOP/NM_015607.3/1;CC=c.542-15dupT;VC=Intron;DM=CHTOP/FoP_duplication;DM=CHTOP/FoP_duplication;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,G,CT,D:52:52:6:8:40,1,6,5:1344,20,187,260:0.00,0.49,13.79,11.43:0.00,0.55,12.86,3.78:0.00,-0.06,0.93,7.65:0.00,0.00,0.83,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.80,0.00:60,60,60,60:40.4,119.0,33.7,13.6:0,0,0,3:0,0,0,0:35,112,43,49:107,17,88,88:27,0,14,29:-,NM_015607.3(CHTOP) c.542-30_542-29insT:-,NOT_FOUND:-,NOT_FOUND 1 153617746 . A . . NT END=153631219;NT GT ./. 1 153631363 . G . . NT END=153631613;NT GT ./. 1 153631661 . G . . NT END=153631923;NT GT ./. 1 153632043 . G . . NT END=153633675;NT GT ./. 1 153633778 . C . . NT END=153634871;NT GT ./. 1 153635033 . C . . NT END=153635180;NT GT ./. 1 153635272 . C . . NT END=153635494;NT GT ./. 1 153635610 . C . . NT END=153635690;NT GT ./. 1 153635753 . C . . NT END=153636518;NT GT ./. 1 153636241 rs34448860 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9988,T/0.001198;NP=1;Gene=ILF2/NM_001267809.1/1;CC=c.630+278G>A;VC=Intron;Gene=ILF2/NM_004515.3/0;CC=c.744+278G>A;VC=Intron;DM=ILF2/DZF;DM=ILF2/DZF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,C,T:5:3:0:0:1,2,2:10,58,66:0.60,0.00,6.32:0.79,0.00,6.76:-0.19,0.00,-0.44:0.00,0.00,0.91:0.00,0.00,0.80:0.00,0.00,0.70:60,60,60:64.0,11.0,38.0:0,0,0:0,0,0:24,62,45:92,88,104:0,46,45:-,NM_004515.3(ILF2) c.744+278G>A:-,0.0023:-,NOT_FOUND 1 153636607 . C . . NT END=153636871;NT GT ./. 1 153636951 . C . . NT END=153637695;NT GT ./. 1 153637813 . C . . NT END=153638138;NT GT ./. 1 153638205 . C . . NT END=153640030;NT GT ./. 1 153640134 . C . . NT END=153640475;NT GT ./. 1 153640554 . C . . NT END=153640928;NT GT ./. 1 153641053 . C . . NT END=153642311;NT GT ./. 1 153642355 . C . . NT END=153642646;NT GT ./. 1 153642372 rs79913857 G T 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.9277,T/0.07228;PC=0.001;Gene=ILF2/NM_001267809.1/1;CC=c.-68-18C>A;VC=Intron;Gene=ILF2/NM_004515.3/0;CC=c.66-18C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:35:23:0:0:24,11:798,314:0.00,27.17:0.00,16.64:0.00,10.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,35.0:0,0:0,0:70,55:73,95:21,23:-,NM_004515.3(ILF2) c.66-18C>A:-,0.08:-,0.117484 1 153642707 . C . . NT END=153643393;NT GT ./. 1 153642835 rs6663046 G C 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.001797,C/0.9982;NP=2697;Gene=ILF2/NM_001267809.1/1;CC=c.-128-129C>G;VC=Intron;Gene=ILF2/NM_004515.3/0;CC=c.6-129C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:0:0:0:15:512:58.35:0.00:58.35:1.00:0.00:1.00:60:39.1:0:0:111:39:30:NM_004515.3(ILF2) c.6-129C>G,NM_004515.3(ILF2) c.6-129C>G:1,1:NOT_FOUND,NOT_FOUND 1 153643399 . G . . NT END=153651584;NT GT ./. 1 153652306 . G . . NT END=153652976;NT GT ./. 1 153653177 . G . . NT END=153653655;NT GT ./. 1 153653770 . G . . NT END=153654179;NT GT ./. 1 153654316 . G . . NT END=153654973;NT GT ./. 1 153655066 . G . . NT END=153655851;NT GT ./. 1 153655988 . G . . NT END=153656215;NT GT ./. 1 153656301 . G . . NT END=153657439;NT GT ./. 1 153656495 rs76081338 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9944,A/0.005591;NP=8;PC=0.001;Gene=NPR1/NM_000906.3/1;CC=c.1484+195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:0:0:0:3,2:92,68:9.17,0.00:0.00,0.00:9.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:55.0,27.0:0,0:0,0:113,119:38,32:30,26:NM_000906.3(NPR1) c.1484+195G>A,-:0.01,-:NOT_FOUND,- 1 153657561 . G . . NT END=153658281;NT GT ./. 1 153658357 . G . . NT END=153658598;NT GT ./. 1 153658480 rs11264236 G A 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.858,A/0.142;PC=0.004;Gene=NPR1/NM_000906.3/1;CC=c.1681-119G>A;VC=Intron;DM=NPR1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:34:23:0:0:18,15,1:558,452,31:54.49,0.00,1.85:25.37,0.00,1.89:29.13,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.3,19.4,31.0:0,0,0:0,0,0:84,52,64:65,99,87:42,36,0:NM_000906.3(NPR1) c.1681-119G>A,-:0.17,-:NOT_FOUND,- 1 153658677 . G . . NT END=153659121;NT GT ./. 1 153659227 . G . . NT END=153659491;NT GT ./. 1 153659564 . G . . NT END=153659675;NT GT ./. 1 153659833 . G . . NT END=153660109;NT GT ./. 1 153660266 . G . . NT END=153660528;NT GT ./. 1 153660698 . G . . NT END=153661428;NT GT ./. 1 153661576 . G . . NT END=153661663;NT GT ./. 1 153661596 rs111230362 AC A 303 rn VT=DEL;SST=Single;DP=196;DB;DBA=NA;PAF=NA;NP=1;Gene=NPR1/NM_000906.3/1;CC=c.2564+29delC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,G,A:195:137:0:111:91,1,103:2667,9,3152:0.00,-0.16,302.83:0.00,-0.06,156.36:0.00,-0.10,146.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:15.6,48.0,13.9:0,0,1:0,0,0:85,132,81:57,8,66:35,0,30:-,NM_000906.3(NPR1) c.2564+22delC:-,NOT_FOUND:-,0.001039 1 153661788 . G . . NT END=153661928;NT GT ./. 1 153661998 . G . . NT END=153662281;NT GT ./. 1 153662457 . G . . NT END=153662759;NT GT ./. 1 153662584 rs61806720 G C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=82;PC=0.023;Gene=NPR1/NM_000906.3/1;CC=c.2932+128G>C;VC=Intron;DM=NPR1/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,G,D:26:4:0:1:8,17,1:197,465,33:16.70,0.00,2.07:4.43,0.00,-0.03:12.27,0.00,2.11:0.98,0.00,0.00:0.77,0.00,0.00:1.00,0.00,0.00:60,60,60:39.9,57.3,38.0:0,0,0:0,0,0:54,129,57:76,22,94:35,16,0:NM_000906.3(NPR1) c.2932+128G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 153662617 rs55865334 T A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5781,A/0.4219;NP=330;Gene=NPR1/NM_000906.3/1;CC=c.2933-143T>A;VC=Intron;DM=NPR1/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T,I:18:5:1:0:7,1,9,1:221,25,286,30:20.64,1.51,0.00,2.00:12.56,-0.03,0.00,-0.03:8.09,1.53,0.00,2.03:0.98,0.00,0.00,0.00:0.91,0.00,0.00,0.00:0.99,0.00,0.00,0.00:60,60,60,60:35.1,25.0,42.1,10.0:0,0,0,0:0,0,0,0:27,25,59,72:122,124,90,78:13,0,24,0:NM_000906.3(NPR1) c.2933-143T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 153662859 . G . . NT END=153665581;NT GT ./. 1 153665674 . G . . NT END=153665827;NT GT ./. 1 153665891 . C . . NT END=153701110;NT GT ./. 1 153700841 rs4411157 A G 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.01577,C/.,G/0.9842;PC=0.075;Gene=INTS3/NM_023015.3/1;CC=c.-270A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:111:13.00:13.00:0.00:1.00:1.00:0.00:60:60.5:0:0:37:113:28:NM_023015.3(INTS3) c.=,NM_023015.3(INTS3) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 1 153701261 . G . . NT END=153713126;NT GT ./. 1 153701376 rs12074957 G C 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=346;PC=0.038;Gene=INTS3/NM_023015.3/1;CC=c.150+116G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:173:20.13:3.98:16.16:1.00:1.00:1.00:60:51.3:0:0:57:75:15:NM_023015.3(INTS3) c.150+116G>C,NM_023015.3(INTS3) c.150+116G>C:1,1:NOT_FOUND,NOT_FOUND 1 153713211 . G . . NT END=153713760;NT GT ./. 1 153713845 . G . . NT END=153719432;NT GT ./. 1 153719547 . G . . NT END=153719754;NT GT ./. 1 153719645 rs41302547 T C 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.975,C/0.02496;Gene=INTS3/NM_023015.3/1;CC=c.432+99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:11:0:0:12,12:373,373:35.82,0.00:20.66,0.00:15.15,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:33.1,7.1:0,0:0,0:50,75:100,74:37,27:NM_023015.3(INTS3) c.432+99T>C,-:0.03,-:NOT_FOUND,- 1 153719840 . G . . NT END=153721164;NT GT ./. 1 153721232 . G . . NT END=153723570;NT GT ./. 1 153723716 . G . . NT END=153724754;NT GT ./. 1 153724885 . G . . NT END=153727117;NT GT ./. 1 153727216 . G . . NT END=153730047;NT GT ./. 1 153730240 . G . . NT END=153732001;NT GT ./. 1 153732090 . G . . NT END=153732786;NT GT ./. 1 153732708 rs58951043 CA C 18 idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.327;Gene=INTS3/NM_023015.3/1;CC=c.1238-53delA;VC=Intron;DM=INTS3/DUF2356;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:CA,I,C:18:21:5:8:8,4,6:256,156,262:0.00,10.89,17.93:0.00,10.89,17.93:0.00,0.00,0.00:0.00,0.00,0.93:0.00,0.00,0.93:0.00,0.00,0.00:60,60,60:13.6,69.5,26.0:0,1,2:0,0,0:88,10,56:62,141,94:57,7,27:-,NM_023015.3(INTS3) c.1238-78delA:-,NOT_FOUND:-,NOT_FOUND 1 153732867 . G . . NT END=153733302;NT GT ./. 1 153733395 . G . . NT END=153733495;NT GT ./. 1 153733586 . G . . NT END=153734045;NT GT ./. 1 153734153 . G . . NT END=153735203;NT GT ./. 1 153735324 . G . . NT END=153735708;NT GT ./. 1 153735839 . G . . NT END=153736307;NT GT ./. 1 153736363 . G . . NT END=153736593;NT GT ./. 1 153736698 . G . . NT END=153737165;NT GT ./. 1 153737211 . G . . NT END=153737419;NT GT ./. 1 153737540 . G . . NT END=153740149;NT GT ./. 1 153740304 . G . . NT END=153741368;NT GT ./. 1 153741438 . G . . NT END=153742244;NT GT ./. 1 153742321 . G . . NT END=153742673;NT GT ./. 1 153742610 . G T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;NP=2;NP=216;Gene=INTS3/NM_023015.3/1;CC=c.2390-64G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,G,T,D:18:15:0:1:1,9,7,1:9,233,157,23:0.10,0.00,14.23,1.31:0.16,0.00,10.37,1.37:-0.06,0.00,3.86,-0.06:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.95,0.00:60,60,60,60:48.0,25.8,58.4,0.0:0,0,0,0:0,0,0,0:91,17,16,64:20,117,135,76:0,17,15,0:-,NM_023015.3(INTS3) c.2390-64G>T:-,NOT_FOUND:-,NOT_FOUND 1 153742788 . G . . NT END=153743160;NT GT ./. 1 153743210 . G . . NT END=153744271;NT GT ./. 1 153743234 rs6675978 T C 49 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5577,C/0.4423,G/.;Gene=INTS3/NM_023015.3/1;CC=c.2552+25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:11:0:0:15,12:497,365:48.77,0.00:9.73,0.00:39.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.9,20.0:0,0:0,0:87,96:61,51:27,17:NM_023015.3(INTS3) c.2552+25T>C,-:0.45,-:0.393049,- 1 153743289 rs12068256 C G 56 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6647,G/0.3353;PC=0.001;Gene=INTS3/NM_023015.3/1;CC=c.2552+80C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:1:0:0:15:487:55.83:1.65:54.18:1.00:1.00:1.00:60:67.5:0:0:116:35:16:NM_023015.3(INTS3) c.2552+80C>G,NM_023015.3(INTS3) c.2552+80C>G:0.35,0.35:NOT_FOUND,NOT_FOUND 1 153744440 . G . . NT END=153744815;NT GT ./. 1 153745188 . G . . NT END=153745400;NT GT ./. 1 153745558 . G . . NT END=153745668;NT GT ./. 1 153745747 . G . . NT END=153747589;NT GT ./. 1 153748641 . G . . NT END=153748993;NT GT ./. 1 153749204 . G . . NT END=153749537;NT GT ./. 1 153749697 . G . . NT END=153750236;NT GT ./. 1 153750207 rs199676289 C CCTT 177 nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.631,CCTT/0.367,CTT/.;DB;DBA=NA;PAF=C/0.631,T/0.001997;NP=10;NP=856;PC=0.001;Gene=SLC27A3/NM_024330.1/1;CC=c.1178-29_1178-28insTTC;VC=Intron;DM=SLC27A3/AMP-binding;DM=SLC27A3/AMP-binding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,T,CCTT:57:49:50:0:3,4,50:73,126,1587:0.00,9.80,177.02:0.00,7.68,129.16:0.00,2.13,47.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:31.7,51.2,5.1:0,0,0:0,0,0:144,0,50:2,150,96:6,0,23:NM_024330.1(SLC27A3) c.1178-30_1178-29insCTT,NM_024330.1(SLC27A3) c.1178-30_1178-29insCTT:0.37,0.37:0.373482,0.373482 1 153750214 rs3841381 TC T 213 rn VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=TC/0.609,T/0.391;DB;DBA=NA;PAF=TC/0.609,T/0.391;NP=920;Gene=SLC27A3/NM_024330.1/1;CC=c.1178-17delC;VC=Intron;DM=SLC27A3/AMP-binding;DM=SLC27A3/AMP-binding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:T:59:49:0:59:59:1850:213.10:149.12:63.98:1.00:1.00:1.00:60:9.6:0:0:56:93:24:NM_024330.1(SLC27A3) c.1178-22delC,NM_024330.1(SLC27A3) c.1178-22delC:0.38,0.38:NOT_FOUND,NOT_FOUND 1 153750362 . G . . NT END=153750636;NT GT ./. 1 153750832 . G . . NT END=153750938;NT GT ./. 1 153751030 . G . . NT END=153751162;NT GT ./. 1 153751362 . G . . NT END=153751589;NT GT ./. 1 153751688 . G . . NT END=153751818;NT GT ./. 1 153751799 . CTG C 139 nt VT=DEL;SST=Single;DP=104;NP=227;Gene=SLC27A3/NM_024330.1/1;CC=c.1886-18_1886-17delGT;VC=Intron;DM=SLC27A3/AMP-binding;DM=SLC27A3/AMP-binding_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTG,C:104:77:0:46:58,46:1914,1480:0.00,138.97:0.00,76.02:0.00,62.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,7.4:1,0:0,0:56,76:92,75:29,28:-,NM_024330.1(SLC27A3) c.1886-19_1886-18delTG:-,0.02:-,0.036507 1 153751950 . G . . NT END=153752301;NT GT ./. 1 153752139 rs10158450 T C 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5813,C/0.4187;Gene=SLC27A3/NM_024330.1/1;CC=c.2017-163T>C;VC=Intron;DM=SLC27A3/AMP-binding;DM=SLC27A3/AMP-binding_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:11:0:0:9,14:237,385:21.26,0.00:10.21,0.00:11.05,0.00:1.00,0.00:0.99,0.00:0.99,0.00:60,60:55.8,14.9:0,0:0,0:87,68:64,82:29,59:NM_024330.1(SLC27A3) c.2017-163T>C,-:0.4,-:NOT_FOUND,- 1 153752479 . G . . NT END=153782652;NT GT ./. 1 153782787 . C . . NT END=153784206;NT GT ./. 1 153784029 rs12136094 G C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8848,C/0.1152;Gene=GATAD2B/NM_020699.2/1;CC=c.1648+178C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:C,G:6:6:0:0:5,1:173,29:18.51,0.00:18.51,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:37.2,0.0:0,0:0,0:90,149:61,2:11,0:NM_020699.2(GATAD2B) c.1648+178C>G,-:0.11,-:NOT_FOUND,- 1 153784325 . C . . NT END=153784497;NT GT ./. 1 153784609 . C . . NT END=153785725;NT GT ./. 1 153784666 . C CT 31 sb;idl,rn VT=INS;SST=Single;DP=35;NP=13;Gene=GATAD2B/NM_020699.2/1;CC=c.1420-59dupA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,CT,D:33:12:12:9:14,11,8:417,366,262:0.00,31.13,21.22:0.00,0.53,3.87:0.00,30.61,17.34:0.00,1.00,0.00:0.00,0.98,0.00:0.00,1.00,0.00:60,60,60:8.1,39.8,9.1:0,1,1:0,0,0:106,96,86:24,54,64:22,20,18:-,NM_020699.2(GATAD2B) c.1420-59_1420-58insA:-,NOT_FOUND:-,NOT_FOUND 1 153785929 . C . . NT END=153788748;NT GT ./. 1 153786182 rs6668066 G A 9 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7057,A/0.2943;PC=0.005;Gene=GATAD2B/NM_020699.2/1;CC=c.1217-254C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:0:0:0:3,1:83,32:8.75,0.00:0.00,0.00:8.75,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:55.7,0.0:0,0:0,0:140,113:10,38:2,0:NM_020699.2(GATAD2B) c.1217-254C>T,-:0.31,-:NOT_FOUND,- 1 153788442 rs9427231 T C 12 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4429,C/0.5571;Gene=GATAD2B/NM_020699.2/1;CC=c.1216+307A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:4:0:0:5:97:11.98:10.34:1.65:1.00:1.00:1.00:60:88.8:0:0:57:93:50:NM_020699.2(GATAD2B) c.1216+307A>G,NM_020699.2(GATAD2B) c.1216+307A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 1 153788535 . AACACAC A 13 idl,rn VT=DEL;SST=Single;DP=11;NP=64;Gene=GATAD2B/NM_020699.2/1;CC=c.1216+208_1216+213delGTGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:AACACAC,I,A:9:10:2:6:3,2,4:100,63,193:0.00,5.51,12.76:0.00,5.60,12.96:0.00,-0.09,-0.20:0.00,0.00,0.82:0.00,0.00,0.98:0.00,0.00,0.58:60,60,60:91.3,32.0,10.2:0,0,2:0,0,0:100,8,45:37,142,104:11,3,23:-,NM_020699.2(GATAD2B) c.1216+208_1216+213delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 153789065 . C . . NT END=153789847;NT GT ./. 1 153789150 rs78740769 C A 58 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.9804,A/0.01957;Gene=GATAD2B/NM_020699.2/1;CC=c.901-86G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:32:4:0:0:19,13:587,414:58.36,0.00:3.01,0.00:55.34,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:38.6,6.5:0,0:0,0:98,97:53,54:27,37:NM_020699.2(GATAD2B) c.901-86G>T,-:0.03,-:NOT_FOUND,- 1 153790019 . C . . NT END=153790515;NT GT ./. 1 153790501 rs4363451 C T 84 nt VT=SNV;PN=A;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.7412,T/0.2588;Gene=GATAD2B/NM_020699.2/1;CC=c.729+15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:46:0:0:24,28:808,860:0.00,83.75:0.00,65.66:0.00,18.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,35.5:0,0:0,0:51,60:97,82:24,38:-,NM_020699.2(GATAD2B) c.729+15G>A:-,0.27:-,0.240504 1 153790648 . C . . NT END=153791266;NT GT ./. 1 153791399 . C . . NT END=153792081;NT GT ./. 1 153792212 . C . . NT END=153800488;NT GT ./. 1 153800825 . C . . NT END=153862153;NT GT ./. 1 153800931 rs60239751 T TAC 22 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;PC=0.002;Gene=GATAD2B/NM_020699.2/1;CC=c.-1-108_-1-107insGT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:T,TAC,D:18:3:8:7:6,8,4:156,228,212:0.00,21.92,10.28:0.00,3.15,-0.09:0.00,18.77,10.37:0.00,0.99,0.00:0.00,0.78,0.00:0.00,1.00,0.00:60,60,60:5.5,8.0,0.0:0,0,3:0,0,0:81,58,48:70,79,102:58,32,10:-,NM_020699.2(GATAD2B) c.-1-108_-1-107insGT:-,NOT_FOUND:-,NOT_FOUND 1 153825208 rs4540690 A G 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6793,G/0.3207;PC=1.000;Gene=GATAD2B/NM_020699.2/1;CC=c.-1-24384T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:9:0:0:8,7:247,232:0.00,22.07:0.00,7.93:0.00,14.14:0.00,0.99:0.00,0.99:0.00,0.99:60,60:1.4,36.7:0,0:0,0:45,50:105,99:20,12:-,NM_020699.2(GATAD2B) c.-1-24384T>C:-,0.33:-,NOT_FOUND 1 153825404 rs4845576 C T 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7612,T/0.2388;PC=1.000;Gene=GATAD2B/NM_020699.2/1;CC=c.-1-24580G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:18:0:0:10,14:340,436:0.00,43.17:0.00,32.00:0.00,11.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,33.5:0,0:0,0:75,42:76,108:30,27:-,NM_020699.2(GATAD2B) c.-1-24580G>A:-,0.26:-,NOT_FOUND 1 153862171 . A . . NT END=153902772;NT GT ./. 1 153902919 . C . . NT END=153903014;NT GT ./. 1 153903080 . C . . NT END=153903167;NT GT ./. 1 153903334 . C . . NT END=153903422;NT GT ./. 1 153903541 . C . . NT END=153904679;NT GT ./. 1 153904574 rs11264620 T C 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7053,C/0.2947;Gene=DENND4B/NM_014856.2/1;CC=c.3996+106A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:21:0:0:9,13:270,411:24.81,0.00:21.52,0.00:3.29,0.00:1.00,0.00:1.00,0.00:0.61,0.00:60,60:44.2,1.2:0,0:0,0:15,36:136,115:11,30:NM_014856.2(DENND4B) c.3996+106A>G,-:0.31,-:NOT_FOUND,- 1 153904917 . C . . NT END=153905117;NT GT ./. 1 153905254 . C . . NT END=153905336;NT GT ./. 1 153905507 . C . . NT END=153905672;NT GT ./. 1 153905796 . C . . NT END=153905958;NT GT ./. 1 153906348 . C . . NT END=153906610;NT GT ./. 1 153906397 rs11264621 A G 123 nt VT=SNV;PN=A;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.3273,G/0.6727;PC=0.004;Gene=DENND4B/NM_014856.2/1;CC=c.2942-50T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:84:38:0:0:44,1,39:1330,10,1291:0.00,-0.11,122.80:0.00,-0.07,41.22:0.00,-0.04,81.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.0,102.0,41.5:0,0,0:0,0,0:114,6,107:32,145,43:23,0,29:-,NM_014856.2(DENND4B) c.2942-50T>C:-,0.66:-,0.534483 1 153906779 . C . . NT END=153907235;NT GT ./. 1 153907278 rs3835302 CCTGCTGCTG C 368 idl VT=DEL;SST=Single;DP=236;DB;DBA=NA;PAF=NA;NP=977;PC=0.943;Gene=DENND4B/NM_014856.2/1;CC=c.2722_2730delCAGCAGCAG;ProtCh=p.Q908_Q910del;VC=InFrameDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCTGCTGCTG,C:223:173:0:133:104,119:3449,4160:0.00,367.97:0.00,209.36:0.00,158.61:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.1,8.9:0,13:0,0:84,61:60,87:44,24:-,NM_014856.2(DENND4B) c.2704CAG[6] (p.Gln895[13]):-,NOT_FOUND:-,NOT_FOUND 1 153907441 . C . . NT END=153908535;NT GT ./. 1 153907839 rs58095661 T C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7412,C/0.2588;PC=0.001;Gene=DENND4B/NM_014856.2/1;CC=c.2569-399A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:0:0:0:3,1:98,32:10.25,0.00:0.00,0.00:10.25,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:52.0,0.0:0,0:0,0:84,127:67,24:3,0:NM_014856.2(DENND4B) c.2569-399A>G,-:0.27,-:NOT_FOUND,- 1 153908309 rs11586075 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7067,A/0.2933;Gene=DENND4B/NM_014856.2/1;CC=c.2568+227C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,G:12:12:0:0:6,6:146,173:13.77,0.00:13.77,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:32.2,7.2:0,0:0,0:54,39:96,111:26,14:NM_014856.2(DENND4B) c.2568+227C>T,-:0.31,-:NOT_FOUND,- 1 153908665 . C . . NT END=153909017;NT GT ./. 1 153909069 rs1043608 G C 233 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.7372,C/0.2628,T/.;PC=0.999;Gene=DENND4B/NM_014856.2/1;CC=c.2388C>G;ProtCh=p.A796=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:134:102:0:0:73,60,1:2377,1948,33:232.77,0.00,1.45:143.41,0.00,0.71:89.37,0.00,0.74:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.5,8.3,33.0:0,0,0:0,0,0:62,77,10:77,71,141:37,28,0:NM_014856.2(DENND4B) c.2388C>G (p.(=)),-:0.28,-:0.239347,- 1 153909225 . C . . NT END=153909963;NT GT ./. 1 153910091 . C . . NT END=153910199;NT GT ./. 1 153910340 . C . . NT END=153911375;NT GT ./. 1 153911522 . C . . NT END=153912064;NT GT ./. 1 153912281 . C . . NT END=153912631;NT GT ./. 1 153912623 rs113191295 G A 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.9778,A/0.02216;Gene=DENND4B/NM_014856.2/1;CC=c.1603+9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:46:0:0:26,32:776,1051:72.60,0.00:45.22,0.00:27.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.7,4.0:0,0:0,0:45,33:104,97:23,23:NM_014856.2(DENND4B) c.1603+9C>T,-:0.03,-:0.043417,- 1 153912733 . C . . NT END=153912906;NT GT ./. 1 153913083 . C . . NT END=153913379;NT GT ./. 1 153913525 . C . . NT END=153913706;NT GT ./. 1 153913699 rs1110165 T G 101 nt VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.7326,G/0.2674;Gene=DENND4B/NM_014856.2/1;CC=c.1181+8A>C;VC=Intron;DM=DENND4B/DENN;DM=DENND4B/DENN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:74:54:0:0:32,42:1077,1269:101.02,0.00:55.61,0.00:45.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.2,15.2:0,0:0,0:79,70:72,78:44,44:NM_014856.2(DENND4B) c.1181+8A>C,-:0.28,-:0.240625,- 1 153913766 . C . . NT END=153913849;NT GT ./. 1 153913770 rs2252508 A G 93 nt VT=SNV;PN=G;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.2949,G/0.7051;Gene=DENND4B/NM_014856.2/1;CC=c.1123-5T>C;VC=Intron;DM=DENND4B/DENN;DM=DENND4B/DENN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:61:0:0:50,30:1588,1016:0.00,92.95:0.00,50.48:0.00,42.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,57.3:0,0:0,0:67,80:83,71:32,24:-,NM_014856.2(DENND4B) c.1123-5T>C:-,0.69:-,0.551211 1 153913917 . C . . NT END=153914344;NT GT ./. 1 153914590 . C . . NT END=153914662;NT GT ./. 1 153914833 . C . . NT END=153915031;NT GT ./. 1 153915102 . C . . NT END=153915353;NT GT ./. 1 153915607 . C . . NT END=153916533;NT GT ./. 1 153916874 . C . . NT END=153917610;NT GT ./. 1 153917369 rs6680140 C T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7372,T/0.2628;PC=0.009;Gene=DENND4B/NM_014856.2/1;CC=c.-23-496G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:10:9:0:0:4,6:88,205:0.00,20.49:0.00,17.13:0.00,3.35:0.00,0.99:0.00,1.00:0.00,0.73:60,60:17.8,41.3:0,0:0,0:119,38:32,112:26,20:-,NM_014856.2(DENND4B) c.-23-496G>A:-,0.28:-,NOT_FOUND 1 153917621 . G . . NT END=153920583;NT GT ./. 1 153920564 rs10559 A G 129 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.7374,G/0.2626;PC=0.001;Gene=CRTC2/NM_181715.2/1;CC=c.*21T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:80:76:0:0:38,1,41:1252,12,1334:0.00,-0.02,129.19:0.00,0.04,98.93:0.00,-0.05,30.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.6,12.0,38.9:0,0,0:0,0,0:23,134,34:120,17,105:18,0,22:-,NM_181715.2(CRTC2) c.*21T>C:-,0.28:-,0.235312 1 153920806 . C . . NT END=153920932;NT GT ./. 1 153921121 . C . . NT END=153921589;NT GT ./. 1 153921483 rs111395902 AC A 20 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=AC/0.7412,A/0.2588;NP=1159;PC=0.108;Gene=CRTC2/NM_181715.2/1;CC=c.1674+107delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:AC,C,A:13:12:0:7:4,2,7:119,26,200:0.00,1.68,20.11:0.00,1.68,13.94:0.00,0.00,6.17:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.91:60,60,60:17.5,144.5,19.3:0,0,0:0,0,0:50,36,83:100,81,68:21,18,34:-,NM_181715.2(CRTC2) c.1674+107delG:-,0.26:-,NOT_FOUND 1 153921861 . C . . NT END=153923734;NT GT ./. 1 153924143 . C . . NT END=153924492;NT GT ./. 1 153924739 . C . . NT END=153924871;NT GT ./. 1 153924923 . C . . NT END=153925045;NT GT ./. 1 153925127 . C . . NT END=153925279;NT GT ./. 1 153925311 . C . . NT END=153925740;NT GT ./. 1 153925846 . C . . NT END=153926012;NT GT ./. 1 153926078 rs11264680 T C 54 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.737,C/0.263;PC=0.934;Gene=CRTC2/NM_181715.2/1;CC=c.439A>G;ProtCh=p.M147V;VC=Missense;DM=CRTC2/TORC_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:21:0:0:18,18:561,562:53.81,0.00:22.91,0.00:30.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,5.4:0,0:0,0:98,116:40,33:19,26:NM_181715.2(CRTC2) c.439A>G (p.Met147Val),-:0.28,-:0.242042,- 1 153926083 . C . . NT END=153926729;NT GT ./. 1 153926793 . G . . NT END=153927347;NT GT ./. 1 153927270 rs10908558 T C 62 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.7404,C/0.2596;Gene=CRTC2/NM_181715.2/1;CC=c.374+77A>G;VC=Intron;DM=CRTC2/TORC_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:C,T:23:23:0:0:18,5:583,175:61.65,0.00:60.33,0.00:1.32,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:37.6,1.2:0,0:0,0:57,28:94,123:32,19:NM_181715.2(CRTC2) c.372+79A>G,-:0.27,-:NOT_FOUND,- 1 153927466 . C . . NT END=153927539;NT GT ./. 1 153927643 . C . . NT END=153930536;NT GT ./. 1 153930718 . C . . NT END=153930819;NT GT ./. 1 153930974 . C . . NT END=153932573;NT GT ./. 1 153931124 rs34083775 G A 76 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.9988,A/0.001198;NP=1;PC=0.003;Gene=CRTC2/NM_181715.2/1;CC=c.-151C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:0:0:0:26,20:770,690:75.68,0.00:0.00,0.00:75.68,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.6,8.2:0,0:0,0:115,112:36,39:14,21:NM_181715.2(CRTC2) c.-151C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 153933231 . C . . NT END=153934695;NT GT ./. 1 153934827 . C . . NT END=153935004;NT GT ./. 1 153935192 . G . . NT END=153941001;NT GT ./. 1 153941176 . G . . NT END=153941405;NT GT ./. 1 153941514 rs11264743 C T 134 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.743,A/.,T/0.257;PC=0.995;Gene=CREB3L4/NM_001255978.1/0;CC=c.283C>T;ProtCh=p.P95S;VC=Missense;Gene=CREB3L4/NM_001255980.1/1;CC=c.223C>T;ProtCh=p.P75S;VC=Missense;Gene=CREB3L4/NM_130898.3/0;CC=c.283C>T;ProtCh=p.P95S;VC=Missense;Gene=CREB3L4/NR_045658.1/0;VC=NonCoding;Gene=CREB3L4/NM_001255979.1/0;CC=c.283C>T;ProtCh=p.P95S;VC=Missense;Gene=CREB3L4/NM_001255981.1/0;CC=c.223C>T;ProtCh=p.P75S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:107:71:0:0:1,63,43:21,1908,1447:0.39,0.00,134.13:0.51,0.00,72.56:-0.12,0.00,61.57:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:261.0,6.1,42.7:0,0,0:0,0,0:19,70,88:132,72,63:0,35,29:-,NM_130898.3(CREB3L4) c.283C>T (p.Pro95Ser):-,0.27:-,0.229125 1 153941653 . G . . NT END=153941809;NT GT ./. 1 153941932 . G . . NT END=153945219;NT GT ./. 1 153942156 rs12023699 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7368,A/0.2632;PC=0.118;Gene=CREB3L4/NM_001255978.1/0;CC=c.543+225G>A;VC=Intron;Gene=CREB3L4/NM_001255980.1/1;CC=c.483+225G>A;VC=Intron;Gene=CREB3L4/NM_130898.3/0;CC=c.543+225G>A;VC=Intron;Gene=CREB3L4/NR_045658.1/0;VC=NonCoding;Gene=CREB3L4/NM_001255979.1/0;CC=c.543+225G>A;VC=Intron;Gene=CREB3L4/NM_001255981.1/0;CC=c.483+225G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,C,G:7:0:0:0:3,1,3:105,5,100:10.10,0.05,0.00:0.00,0.00,0.00:10.10,0.05,0.00:0.69,0.00,0.00:0.00,0.00,0.00:0.69,0.00,0.00:60,60,60:41.3,55.0,4.7:0,0,0:0,0,0:80,101,106:71,50,45:21,0,15:NM_130898.3(CREB3L4) c.543+225G>A,-:0.28,-:NOT_FOUND,- 1 153945313 . G . . NT END=153945447;NT GT ./. 1 153945555 . G . . NT END=153945670;NT GT ./. 1 153945740 . G . . NT END=153945855;NT GT ./. 1 153945941 . G . . NT END=153946095;NT GT ./. 1 153946193 . G . . NT END=153946347;NT GT ./. 1 153946542 . G . . NT END=153947154;NT GT ./. 1 153947312 . C . . NT END=153948301;NT GT ./. 1 153948382 . C . . NT END=153949168;NT GT ./. 1 153949135 . TA T 7 rn VT=DEL;SST=Single;DP=28;NP=68;Gene=JTB/NM_006694.3/1;CC=c.204+33delT;VC=Intron;DM=JTB/JTB;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:TA,I,T:28:24:2:3:23,2,3:666,65,98:0.00,4.43,7.20:0.00,0.76,6.06:0.00,3.67,1.13:0.00,0.00,0.44:0.00,0.00,0.85:0.00,0.00,0.64:60,60,60:15.0,23.0,0.0:0,0,0:0,0,0:39,46,27:112,104,124:23,7,2:-,NM_006694.3(JTB) c.204+33delT:-,NOT_FOUND:-,NOT_FOUND 1 153949252 . C . . NT END=153949451;NT GT ./. 1 153949490 . C . . NT END=153949645;NT GT ./. 1 153950374 . G . . NT END=153954574;NT GT ./. 1 153954653 . C . . NT END=153954866;NT GT ./. 1 153954674 rs10908578 T C 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.3153,C/0.6847;Gene=RAB13/NM_001272038.1/0;CC=c.292-22A>G;VC=Intron;Gene=RAB13/NM_002870.3/1;CC=c.535-22A>G;VC=Intron;Gene=RAB13/NR_073553.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:21:0:0:15,19:473,625:44.28,0.00:23.15,0.00:21.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,4.2:0,0:0,0:94,100:57,37:32,23:NM_002870.2(RAB13) c.535-22A>G,-:0.68,-:0.518453,- 1 153954778 rs371625659 AAC A 21 sb;idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=222;Gene=RAB13/NM_001272038.1/0;CC=c.291+87_291+88delGT;VC=Intron;Gene=RAB13/NM_002870.3/1;CC=c.534+87_534+88delGT;VC=Intron;Gene=RAB13/NR_073553.1/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,I,A:22:18:1:9:14,1,7:423,22,296:0.00,1.06,20.50:0.00,-0.14,21.47:0.00,1.20,-0.97:0.00,0.00,0.97:0.00,0.00,0.99:0.00,0.00,0.93:60,60,60:20.4,13.0,6.1:0,1,2:0,0,0:52,20,72:83,129,79:44,0,27:-,NM_002870.2(RAB13) c.534+87_534+88delGT:-,NOT_FOUND:-,NOT_FOUND 1 153954921 . C . . NT END=153955010;NT GT ./. 1 153955077 . C . . NT END=153955194;NT GT ./. 1 153955285 . C . . NT END=153955694;NT GT ./. 1 153955773 . C . . NT END=153955996;NT GT ./. 1 153956058 . C . . NT END=153957196;NT GT ./. 1 153957258 . C . . NT END=153957459;NT GT ./. 1 153957843 . A . . NT END=153958492;NT GT ./. 1 153958713 . G . . NT END=153963272;NT GT ./. 1 153963279 . G . . NT END=153963590;NT GT ./. 1 153963700 . G . . NT END=153964041;NT GT ./. 1 153963995 rs397713349 A AAG 40 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.7179,AAG/0.2821;DB;DBA=NA;PAF=A/0.7179,AAG/0.2821;NP=1584;Gene=RPS27/NM_001030.4/1;CC=c.116-45_116-44dupGA;VC=Intron;DM=RPS27/Ribosomal_S27e;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAG:30:24:14:0:16,14:470,422:0.00,39.89:0.00,28.11:0.00,11.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,5.2:0,0:0,0:50,40:100,108:21,30:-,NM_001030.4(RPS27) c.116-47_116-46insAG:-,NOT_FOUND:-,0.257109 1 153964153 . G . . NT END=153964540;NT GT ./. 1 153964396 rs397693735 C CAA 29 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3175,CAA/0.6825;DB;DBA=NA;PAF=C/0.3175,CAA/0.6825;NP=2374;Gene=RPS27/NM_001030.4/1;CC=c.227-144_227-143insAA;VC=Intron;DM=RPS27/Ribosomal_S27e;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAA:18:12:10:0:8,10:258,298:0.00,29.20:0.00,10.37:0.00,18.83:0.00,1.00:0.00,1.00:0.00,0.99:60,60:19.1,15.1:0,0:0,0:41,92:109,58:13,32:-,NM_001030.4(RPS27) c.227-145_227-144insAA:-,0.68:-,NOT_FOUND 1 153964570 . A . . NT END=153965310;NT GT ./. 1 153965412 . C . . NT END=153965490;NT GT ./. 1 153965566 . C . . NT END=153967551;NT GT ./. 1 153967657 . C . . NT END=153973331;NT GT ./. 1 153973537 . C . . NT END=153974210;NT GT ./. 1 153974462 . C . . NT END=153982447;NT GT ./. 1 153974621 rs6701341 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.724,T/0.276;Gene=NUP210L/NM_001159484.1/0;CC=c.4931-6965G>A;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.4931-160G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:12,9:337,306:0.00,28.71:0.00,0.00:0.00,28.71:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.2,40.9:0,0:0,0:105,96:45,55:18,35:-,NM_207308.2(NUP210L) c.4931-160G>A:-,0.29:-,NOT_FOUND 1 153981639 rs61542760 G A 11 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7358,A/0.2642;PC=0.096;Gene=NUP210L/NM_001159484.1/0;CC=c.4930+809C>T;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.4930+809C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:5:3:0:0:3,2:107,65:10.67,0.00:1.53,0.00:9.14,0.00:0.78,0.00:0.94,0.00:0.78,0.00:60,60:35.7,22.0:0,0:0,0:19,37:130,84:8,34:NM_207308.2(NUP210L) c.4930+809C>T,-:0.27,-:NOT_FOUND,- 1 153982598 . C . . NT END=153984719;NT GT ./. 1 153984847 . C . . NT END=153991408;NT GT ./. 1 153991546 . C . . NT END=153994601;NT GT ./. 1 153994527 . C CT 7 rn VT=INS;SST=Single;DP=24;NP=3;PC=0.014;Gene=NUP210L/NM_001159484.1/0;CC=c.4516+74dupA;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.4516+74dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,CT:24:24:3:0:21,3:703,97:0.00,7.21:0.00,5.87:0.00,1.34:0.00,0.47:0.00,0.47:0.00,0.42:60,60:16.3,0.0:0,0:0,0:30,49:121,102:20,43:-,NM_207308.2(NUP210L) c.4516+74_4516+75insA:-,NOT_FOUND:-,NOT_FOUND 1 153994647 rs11264875 C T 116 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.7298,T/0.2702;PC=1.000;Gene=NUP210L/NM_001159484.1/0;CC=c.4471G>A;ProtCh=p.V1491I;VC=Missense;Gene=NUP210L/NM_207308.2/1;CC=c.4471G>A;ProtCh=p.V1491I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:97:88:0:0:58,39:1919,1262:0.00,116.40:0.00,83.70:0.00,32.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,37.7:0,0:0,0:51,66:99,80:31,35:-,NM_207308.2(NUP210L) c.4471G>A (p.Val1491Ile):-,0.28:-,0.237045 1 153994820 . C . . NT END=153995597;NT GT ./. 1 153995774 . C . . NT END=153998017;NT GT ./. 1 153998193 . C . . NT END=153999981;NT GT ./. 1 154000074 . C . . NT END=154002371;NT GT ./. 1 154002531 . C . . NT END=154018544;NT GT ./. 1 154018677 . C . . NT END=154018764;NT GT ./. 1 154018846 . C . . NT END=154026703;NT GT ./. 1 154026884 . C . . NT END=154027245;NT GT ./. 1 154027309 . C . . NT END=154029290;NT GT ./. 1 154027381 rs397861952 AT A 20 idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=392;PC=0.001;Gene=NUP210L/NM_001159484.1/0;CC=c.3241-74delA;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.3241-74delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:19:8:0:9:12,7:391,283:0.00,19.79:0.00,2.27:0.00,17.52:0.00,0.97:0.00,0.94:0.00,1.00:60,60:5.7,5.0:0,2:0,0:135,110:13,39:10,8:-,NM_207308.2(NUP210L) c.3241-74delA:-,NOT_FOUND:-,NOT_FOUND 1 154029424 . C . . NT END=154030564;NT GT ./. 1 154029450 rs11264964 G C 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.7344,A/.,C/0.2656;PC=0.981;Gene=NUP210L/NM_001159484.1/0;CC=c.3108-27C>G;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.3108-27C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:63:32:0:0:22,41:759,1366:68.70,0.00:19.34,0.00:49.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,6.3:0,0:0,0:88,72:62,70:33,31:NM_207308.2(NUP210L) c.3108-27C>G,-:0.27,-:0.234597,- 1 154030693 . C . . NT END=154031040;NT GT ./. 1 154031170 . C . . NT END=154033015;NT GT ./. 1 154033118 . C . . NT END=154033417;NT GT ./. 1 154033523 . C . . NT END=154034061;NT GT ./. 1 154034151 . C . . NT END=154042748;NT GT ./. 1 154042942 . C . . NT END=154061896;NT GT ./. 1 154061855 rs2066135 T G 153 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=NUP210L/NM_001159484.1/0;CC=c.2361+42A>C;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.2361+42A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:G:41:35:0:0:41:1339:153.39:113.02:40.37:1.00:1.00:1.00:60:45.9:0:0:53:98:30:NM_207308.2(NUP210L) c.2361+42A>C,NM_207308.2(NUP210L) c.2361+42A>C:1,1:NOT_FOUND,NOT_FOUND 1 154062071 . C . . NT END=154067410;NT GT ./. 1 154062342 rs10908691 C T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7428,T/0.2572;Gene=NUP210L/NM_001159484.1/0;CC=c.2188-272G>A;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.2188-272G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:0:0:0:1,3:35,97:0.00,10.15:0.00,0.00:0.00,10.15:0.00,0.85:0.00,0.00:0.00,0.85:60,60:61.0,56.7:0,0:0,0:75,48:76,103:0,13:-,NM_207308.2(NUP210L) c.2188-272G>A:-,0.27:-,NOT_FOUND 1 154067633 . C . . NT END=154072473;NT GT ./. 1 154072287 rs7537213 G T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6761,T/0.3239;PC=0.002;Gene=NUP210L/NM_001159484.1/0;CC=c.1965+187C>A;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.1965+187C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:G,T:11:11:0:0:6,5:173,154:0.00,14.51:0.00,14.51:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:4.0,30.8:0,0:0,0:52,51:98,100:28,28:-,NM_207308.2(NUP210L) c.1965+187C>A:-,0.33:-,NOT_FOUND 1 154072620 . C . . NT END=154076487;NT GT ./. 1 154076366 rs7521047 T C 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6757,C/0.3243;PC=0.001;Gene=NUP210L/NM_001159484.1/0;CC=c.1819+122A>G;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.1819+122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:13,10:435,328:42.86,0.00:42.86,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.7,10.2:0,0:0,0:48,34:101,116:28,16:NM_207308.2(NUP210L) c.1819+122A>G,-:0.33,-:NOT_FOUND,- 1 154076687 . C . . NT END=154090200;NT GT ./. 1 154090357 . C . . NT END=154091146;NT GT ./. 1 154091017 rs6661101 G C 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6787,C/0.3213;PC=0.001;Gene=NUP210L/NM_001159484.1/0;CC=c.1464+130C>G;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.1464+130C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:C,G:15:15:0:0:6,9:176,292:16.07,0.00:16.18,0.00:-0.11,0.00:0.96,0.00:0.96,0.00:0.60,0.00:60,60:43.3,12.7:0,0:0,0:45,42:103,109:41,35:NM_207308.2(NUP210L) c.1464+130C>G,-:0.34,-:NOT_FOUND,- 1 154091285 . C . . NT END=154098798;NT GT ./. 1 154098940 . C . . NT END=154099786;NT GT ./. 1 154099584 rs5777889 TA T 10 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TA/0.5966,T/0.4034;NP=30;PC=0.384;Gene=NUP210L/NM_001159484.1/0;CC=c.1185+202delT;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.1185+202delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TA,T:4:6:0:5:1,3:33,159:0.00,9.63:0.00,9.63:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,2.3:0,2:0,0:14,29:137,121:0,19:-,NM_207308.2(NUP210L) c.1185+202delT:-,NOT_FOUND:-,NOT_FOUND 1 154099894 . C . . NT END=154101752;NT GT ./. 1 154100029 rs10531787 CTT C 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CTT/0.1288,C/0.8712;PC=0.001;Gene=NUP210L/NM_001159484.1/0;CC=c.1079-138_1079-137delAA;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.1079-138_1079-137delAA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:CTT,C:5:0:0:5:2,3:63,125:0.00,9.13:0.00,0.00:0.00,9.13:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,3.3:0,1:0,0:144,68:6,83:5,13:-,NM_207308.2(NUP210L) c.1079-138_1079-137delAA:-,NOT_FOUND:-,NOT_FOUND 1 154101822 . C . . NT END=154108289;NT GT ./. 1 154108387 rs3001361 G A 174 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.03095,A/0.969,T/.;Gene=NUP210L/NM_001159484.1/0;CC=c.912C>T;ProtCh=p.N304=;VC=Silent;Gene=NUP210L/NM_207308.2/1;CC=c.912C>T;ProtCh=p.N304=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:A:47:28:0:0:47:1521:174.45:84.98:89.47:1.00:1.00:1.00:60:38.0:0:0:80:71:28:NM_207308.2(NUP210L) c.912C>T (p.(=)),NM_207308.2(NUP210L) c.912C>T (p.(=)):0.97,0.97:0.972815,0.972815 1 154108449 . C . . NT END=154110581;NT GT ./. 1 154110715 . C . . NT END=154112277;NT GT ./. 1 154110733 rs11318139 GA G 81 rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=976;PC=0.011;Gene=NUP210L/NM_001159484.1/0;CC=c.718-20delT;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.718-20delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:45:26:2:27:16,2,27:464,63,808:0.00,4.23,81.33:0.00,2.26,27.02:0.00,1.98,54.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.0,12.0,13.9:0,0,0:0,0,0:89,99,77:50,51,67:41,23,24:-,NM_207308.2(NUP210L) c.718-20delT:-,NOT_FOUND:-,NOT_FOUND 1 154110921 rs6659053 A G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6727,G/0.3273;PC=0.048;Gene=NUP210L/NM_001159484.1/0;CC=c.718-207T>C;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.718-207T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:9:0:0:0:4,5:119,152:0.00,14.89:0.00,0.00:0.00,14.89:0.00,0.96:0.00,0.00:0.00,0.96:60,60:10.8,32.4:0,0:0,0:58,80:92,71:17,28:-,NM_207308.2(NUP210L) c.718-207T>C:-,0.34:-,NOT_FOUND 1 154112163 . CA C 7 idl,rn VT=DEL;SST=Single;DP=28;NP=170;Gene=NUP210L/NM_001159484.1/0;CC=c.717+114delT;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.717+114delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:CA,T,C:26:28:0:5:22,1,3:726,9,164:0.00,-0.12,7.34:0.00,-0.12,7.34:0.00,0.00,0.00:0.00,0.00,0.44:0.00,0.00,0.44:0.00,0.00,0.00:60,60,60:42.8,179.0,23.0:2,0,2:0,0,0:33,87,24:117,64,127:22,0,11:-,NM_207308.2(NUP210L) c.717+114delT:-,NOT_FOUND:-,NOT_FOUND 1 154112167 rs2500223 A C 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=NUP210L/NM_001159484.1/0;CC=c.717+111T>G;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.717+111T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:28:28:0:0:7,21:235,646:0.00,67.70:0.00,67.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.9,53.4:7,0:0,0:33,43:117,108:18,30:-,NM_207308.2(NUP210L) c.717+111T>G:-,NOT_FOUND:-,NOT_FOUND 1 154112429 . C . . NT END=154113906;NT GT ./. 1 154114001 . C . . NT END=154115921;NT GT ./. 1 154115677 rs397745442 C CA 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6985,CA/0.3015;DB;DBA=NA;PAF=C/0.6985,CA/0.3015;NP=14;PC=0.008;Gene=NUP210L/NM_001159484.1/0;CC=c.472+244_472+245insT;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.472+244_472+245insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,CA,D:6:6:4:1:2,3,1:66,121,29:0.00,9.04,2.40:0.00,6.23,2.40:0.00,2.81,0.00:0.00,0.69,0.00:0.00,0.95,0.00:0.00,0.62,0.00:60,60,60:25.5,54.3,97.0:0,1,0:0,0,0:43,27,57:107,123,91:24,7,0:-,NM_207308.2(NUP210L) c.472+244_472+245insT:-,NOT_FOUND:-,NOT_FOUND 1 154116054 . C . . NT END=154125211;NT GT ./. 1 154125067 rs3001363 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7161,T/0.2839;PC=0.279;Gene=NUP210L/NM_001159484.1/0;CC=c.340+145G>A;VC=Intron;Gene=NUP210L/NM_207308.2/1;CC=c.340+145G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,T:6:6:0:0:3,3:70,73:0.00,6.93:0.00,6.93:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:42.3,24.3:0,0:0,0:30,46:121,105:6,0:-,NM_207308.2(NUP210L) c.340+145G>A:-,0.28:-,NOT_FOUND 1 154125349 . C . . NT END=154127317;NT GT ./. 1 154127521 . G . . NT END=154139000;NT GT ./. 1 154139165 rs72189266 C CT 75 idl,rn VT=INS;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.5337,CT/0.3409,CTT/0.1254;DB;DBA=NA;PAF=C/0.5337,CT/0.3409,CTT/0.1254;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5337,CTT/0.1254;NP=175;NP=20;PC=0.026;Gene=TPM3/NM_001278191.1/0;CC=c.394+3710_394+3711insA;VC=Intron;Gene=TPM3/NM_001043351.1/0;CC=c.664+3710_664+3711insA;VC=Intron;Gene=TPM3/NM_001043352.1/0;CC=c.664+3710_664+3711insA;VC=Intron;Gene=TPM3/NM_001043353.1/0;CC=c.664+3710_664+3711insA;VC=Intron;Gene=TPM3/NM_001278188.1/0;CC=c.466+3710_466+3711insA;VC=Intron;Gene=TPM3/NM_001278189.1/0;CC=c.743+2615_743+2616insA;VC=Intron;Gene=TPM3/NM_001278190.1/0;CC=c.601+3710_601+3711insA;VC=Intron;Gene=TPM3/NM_153649.3/1;CC=c.664+3710_664+3711insA;VC=Intron;Gene=TPM3/NR_103461.1/0;VC=NonCoding;Gene=TPM3/NM_152263.3/0;CC=c.*1247_*1248insA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CT,D:95:46:30:5:1,62,27,5:10,1992,957,144:-0.17,0.00,75.40,8.95:-0.09,0.00,24.60,1.82:-0.08,0.00,50.80,7.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:77.0,13.6,22.3,7.8:0,0,3,0:0,0,0,0:20,115,87,111:130,25,53,40:0,23,23,22:-,NM_152263.2(TPM3) c.*1247dupA:-,NOT_FOUND:-,NOT_FOUND 1 154139187 . t . . NT END=154139760;NT GT ./. 1 154139381 rs6673171 A C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6771,C/0.3229;PC=0.006;Gene=TPM3/NM_001278191.1/0;CC=c.394+3495T>G;VC=Intron;Gene=TPM3/NM_001043351.1/0;CC=c.664+3495T>G;VC=Intron;Gene=TPM3/NM_001043352.1/0;CC=c.664+3495T>G;VC=Intron;Gene=TPM3/NM_001043353.1/0;CC=c.664+3495T>G;VC=Intron;Gene=TPM3/NM_001278188.1/0;CC=c.466+3495T>G;VC=Intron;Gene=TPM3/NM_001278189.1/0;CC=c.743+2400T>G;VC=Intron;Gene=TPM3/NM_001278190.1/0;CC=c.601+3495T>G;VC=Intron;Gene=TPM3/NM_153649.3/1;CC=c.664+3495T>G;VC=Intron;Gene=TPM3/NR_103461.1/0;VC=NonCoding;Gene=TPM3/NM_152263.3/0;CC=c.*1032T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C:9:0:0:0:4,5:84,104:0.00,10.07:0.00,0.00:0.00,10.07:0.00,0.96:0.00,0.00:0.00,0.96:60,60:31.2,61.4:0,0:0,0:132,107:17,43:6,2:-,NM_152263.2(TPM3) c.*1032T>G:-,0.34:-,NOT_FOUND 1 154140417 . C . . NT END=154141780;NT GT ./. 1 154141860 . C . . NT END=154142875;NT GT ./. 1 154141908 rs4845364 A G 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.2678,G/0.7322;PC=0.985;Gene=TPM3/NM_001278191.1/0;CC=c.394+968T>C;VC=Intron;Gene=TPM3/NM_001043351.1/0;CC=c.664+968T>C;VC=Intron;Gene=TPM3/NM_001043352.1/0;CC=c.664+968T>C;VC=Intron;Gene=TPM3/NM_001043353.1/0;CC=c.664+968T>C;VC=Intron;Gene=TPM3/NM_001278188.1/0;CC=c.466+968T>C;VC=Intron;Gene=TPM3/NM_001278189.1/0;CC=c.665-49T>C;VC=Intron;Gene=TPM3/NM_001278190.1/0;CC=c.601+968T>C;VC=Intron;Gene=TPM3/NM_153649.3/1;CC=c.664+968T>C;VC=Intron;Gene=TPM3/NR_103461.1/0;VC=NonCoding;Gene=TPM3/NM_152263.3/0;CC=c.776-49T>C;VC=Intron;DM=TPM3/Tropomyosin;DM=TPM3/Tropomyosin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:23:0:0:29,31:961,972:0.00,93.94:0.00,24.48:0.00,69.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,36.8:0,0:0,0:87,120:63,30:36,14:-,NM_001043353.1(TPM3) c.664+968T>C:-,0.73:-,0.602184 1 154142946 . C . . NT END=154143124;NT GT ./. 1 154143188 . C . . NT END=154143888;NT GT ./. 1 154143965 . C . . NT END=154144504;NT GT ./. 1 154144581 . C . . NT END=154145383;NT GT ./. 1 154145455 . C . . NT END=154145559;NT GT ./. 1 154145678 . C . . NT END=154148590;NT GT ./. 1 154148725 . C . . NT END=154150589;NT GT ./. 1 154150698 . G . . NT END=154155463;NT GT ./. 1 154150911 rs12063830 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.264,G/0.736;Gene=TPM3/NM_001043351.1/0;CC=c.133-2187T>C;VC=Intron;Gene=TPM3/NM_001043352.1/0;CC=c.133-2187T>C;VC=Intron;Gene=TPM3/NM_001043353.1/0;CC=c.133-2187T>C;VC=Intron;Gene=TPM3/NM_001278188.1/0;CC=c.68+4553T>C;VC=Intron;Gene=TPM3/NM_001278189.1/0;CC=c.133-2187T>C;VC=Intron;Gene=TPM3/NM_001278190.1/0;CC=c.133-2187T>C;VC=Intron;Gene=TPM3/NM_153649.3/1;CC=c.133-2187T>C;VC=Intron;Gene=TPM3/NR_103461.1/0;VC=NonCoding;Gene=TPM3/NM_152263.3/0;CC=c.244-2187T>C;VC=Intron;DM=TPM3/Tropomyosin;DM=TPM3/Tropomyosin;DM=TPM3/Tropomyosin;DM=TPM3/Tropomyosin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,G:9:0:0:0:4,5:130,165:0.00,16.20:0.00,0.00:0.00,16.20:0.00,0.96:0.00,0.00:0.00,0.96:60,60:40.0,33.0:0,0:0,0:99,101:50,50:35,19:-,NM_001043353.1(TPM3) c.133-2187T>C:-,0.75:-,NOT_FOUND 1 154155726 . G . . NT END=154159733;NT GT ./. 1 154159919 . C . . NT END=154163661;NT GT ./. 1 154163788 . C . . NT END=154164104;NT GT ./. 1 154164210 . C . . NT END=154164377;NT GT ./. 1 154164495 . G . . NT END=154171902;NT GT ./. 1 154172005 . C . . NT END=154172934;NT GT ./. 1 154173065 . C . . NT END=154178073;NT GT ./. 1 154178079 rs74957241 G A 110 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.9617,A/0.03834,C/.;Gene=C1orf189/NM_001010979.2/1;CC=c.69C>T;ProtCh=p.V23=;VC=Silent;DM=C1orf189/DUF4558 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:41:0:0:34,30:1133,996:110.29,0.00:54.79,0.00:55.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,4.4:0,0:0,0:76,49:74,95:24,24:NM_001010979.1(C1orf189) c.69C>T (p.(=)),-:0.05,-:0.077503,- 1 154178115 . C . . NT END=154178750;NT GT ./. 1 154178185 rs370938534 CT C 13 idl,rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=49;Gene=C1orf189/NM_001010979.2/1;CC=c.34-72delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:CT,G,I,C:40:18:2:8:32,1,2,5:1017,12,67,259:0.00,-0.02,4.33,12.60:0.00,-0.08,2.34,8.03:0.00,0.05,1.99,4.57:0.00,0.00,0.00,0.75:0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.96:60,60,60,60:20.5,71.0,0.0,13.0:0,0,0,3:0,0,0,0:108,16,75,102:32,134,63,45:20,0,7,19:-,NM_001010979.1(C1orf189) c.34-72delA:-,NOT_FOUND:-,NOT_FOUND 1 154178784 . G . . NT END=154179928;NT GT ./. 1 154180125 . C . . NT END=154184795;NT GT ./. 1 154184855 . C . . NT END=154184933;NT GT ./. 1 154185101 . C . . NT END=154186368;NT GT ./. 1 154186423 . C . . NT END=154186932;NT GT ./. 1 154186918 rs12408458 G C 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.6671,C/0.3329;PC=0.001;Gene=C1orf43/NM_001098616.2/0;CC=c.286+15C>G;VC=Intron;Gene=C1orf43/NM_001297717.1/0;CC=c.286+15C>G;VC=Intron;Gene=C1orf43/NM_001297718.1/1;CC=c.181+15C>G;VC=Intron;Gene=C1orf43/NM_001297720.1/0;CC=c.286+15C>G;VC=Intron;Gene=C1orf43/NM_015449.3/0;CC=c.184+15C>G;VC=Intron;Gene=C1orf43/NM_138740.3/0;CC=c.184+15C>G;VC=Intron;Gene=C1orf43/NM_001297721.1/0;CC=c.184+15C>G;VC=Intron;Gene=C1orf43/NM_001297723.1/0;CC=c.286+15C>G;VC=Intron;DM=C1orf43/NICE-3;DM=C1orf43/NICE-3;DM=C1orf43/NICE-3;DM=C1orf43/NICE-3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:35:32:0:0:17,18:574,618:54.98,0.00:47.36,0.00:7.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.8,1.8:0,0:0,0:71,71:79,78:37,31:NM_001098616.1(C1orf43) c.286+15C>G,-:0.33,-:0.274489,- 1 154187051 . C . . NT END=154192311;NT GT ./. 1 154192414 . C . . NT END=154192817;NT GT ./. 1 154192463 rs551231942 G GT 17 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.347,GT/0.653,GTT/.,GTTT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9159,T/0.08407;NP=1295;NP=5;PC=0.006;Gene=C1orf43/NM_001098616.2/0;CC=c.67-51dupA;VC=Intron;Gene=C1orf43/NM_001297717.1/0;CC=c.67-51dupA;VC=Intron;Gene=C1orf43/NM_001297718.1/1;CC=c.-39-51dupA;VC=Intron;Gene=C1orf43/NM_001297720.1/0;CC=c.67-51dupA;VC=Intron;Gene=C1orf43/NM_015449.3/0;CC=c.66+354dupA;VC=Intron;Gene=C1orf43/NM_138740.3/0;CC=c.66+354dupA;VC=Intron;Gene=C1orf43/NM_001297721.1/0;CC=c.66+354dupA;VC=Intron;Gene=C1orf43/NM_001297723.1/0;CC=c.67-51dupA;VC=Intron;DM=C1orf43/NICE-3;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:G,GT:22:11:8:0:16,6:522,263:0.00,17.05:0.00,4.10:0.00,12.95:0.00,0.92:0.00,0.93:0.00,0.99:60,60:9.2,5.5:0,2:0,0:106,84:42,65:29,22:-,NM_001098616.1(C1orf43) c.67-51_67-50insA:-,NOT_FOUND:-,NOT_FOUND 1 154192884 . G . . NT END=154197599;NT GT ./. 1 154197690 . G . . NT END=154199757;NT GT ./. 1 154199543 rs4845365 T C 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1120;PC=0.001;Gene=UBAP2L/NM_001127320.2/0;CC=c.91-215T>C;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.91-215T>C;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.91-215T>C;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.91-215T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:207:23.56:23.56:0.00:1.00:1.00:0.00:60:38.8:0:0:64:86:60:NM_014847.3(UBAP2L) c.91-215T>C,NM_014847.3(UBAP2L) c.91-215T>C:1,1:NOT_FOUND,NOT_FOUND 1 154199837 . T . . NT END=154201090;NT GT ./. 1 154201203 . T . . NT END=154207066;NT GT ./. 1 154207269 . G . . NT END=154209041;NT GT ./. 1 154208877 rs3762339 A G 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.509,G/0.491;PC=0.030;Gene=UBAP2L/NM_001127320.2/0;CC=c.545-165A>G;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.524-165A>G;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.545-165A>G;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.578-165A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:15:0:0:8,7:215,234:0.00,22.26:0.00,22.26:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:10.1,38.6:0,0:0,0:47,58:103,93:35,24:-,NM_014847.3(UBAP2L) c.545-165A>G:-,0.45:-,NOT_FOUND 1 154209089 . T . . NT END=154209499;NT GT ./. 1 154209614 . T . . NT END=154213988;NT GT ./. 1 154214043 . T . . NT END=154214175;NT GT ./. 1 154214274 . G . . NT END=154215692;NT GT ./. 1 154215780 . C . . NT END=154218679;NT GT ./. 1 154215973 rs1194582 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2278,G/0.7722,T/.;PC=0.001;Gene=UBAP2L/NM_001127320.2/0;CC=c.842+195A>G;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.821+195A>G;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.842+195A>G;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.875+195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:8:0:0:0:5,3:161,101:0.00,9.23:0.00,0.00:0.00,9.23:0.00,0.67:0.00,0.00:0.00,0.67:60,60:2.0,38.7:0,0:0,0:71,107:80,44:49,3:-,NM_014847.3(UBAP2L) c.842+195A>G:-,0.77:-,NOT_FOUND 1 154218550 rs397860466 CT C 41 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=CT/0.228,C/0.772;DB;DBA=NA;PAF=CT/0.228,C/0.772;NP=1707;PC=0.020;Gene=UBAP2L/NM_001127320.2/0;CC=c.843-126delT;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.822-126delT;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.843-126delT;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.876-126delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:25:25:0:13:12,13:330,418:0.00,40.51:0.00,40.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:18.8,1.1:0,0:0,0:63,40:87,111:24,27:-,NM_014847.3(UBAP2L) c.843-129delT:-,0.77:-,NOT_FOUND 1 154218639 rs4040743 TTCAG T 114 nt VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=TTCAG/0.509,T/0.491;DB;DBA=NA;PAF=TTCAG/0.509,T/0.491;NP=2328;PC=0.919;Gene=UBAP2L/NM_001127320.2/0;CC=c.843-37_843-34delGTCA;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.822-37_822-34delGTCA;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.843-37_843-34delGTCA;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.876-37_876-34delGTCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTCAG,T:74:64:0:37:37,37:1061,1188:0.00,114.25:0.00,87.21:0.00,27.04:0.00,1.00:0.00,1.00:0.00,1.00:60,70:19.1,5.4:0,0:0,0:38,49:99,101:20,23:-,NM_014847.3(UBAP2L) c.843-40_843-37delTCAG:-,0.44:-,0.386527 1 154218853 . T . . NT END=154221714;NT GT ./. 1 154221915 . T . . NT END=154223516;NT GT ./. 1 154223323 . C CA 9 idl,rn VT=INS;SST=Single;DP=9;PC=0.423;Gene=UBAP2L/NM_001127320.2/0;CC=c.1214-174_1214-173insA;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.1193-174_1193-173insA;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.1214-174_1214-173insA;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.1247-174_1247-173insA;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,CA,D:7:9:4:2:3,3,1:90,133,54:0.00,9.47,1.57:0.00,9.47,1.57:0.00,0.00,0.00:0.00,0.64,0.00:0.00,0.64,0.00:0.00,0.00,0.00:60,60,60:17.0,35.0,85.0:0,1,1:0,0,0:95,33,8:54,113,142:23,7,3:-,NM_014847.3(UBAP2L) c.1214-194_1214-193insA:-,NOT_FOUND:-,NOT_FOUND 1 154223796 . T . . NT END=154223956;NT GT ./. 1 154224131 . T . . NT END=154226375;NT GT ./. 1 154226567 . T . . NT END=154227311;NT GT ./. 1 154227239 rs1194604 C A 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=UBAP2L/NM_001127320.2/0;CC=c.1855-73C>A;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.1834-73C>A;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.1855-73C>A;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.1888-73C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:34:33:0:0:14,20:410,688:37.63,0.00:29.73,0.00:7.90,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:47.4,16.4:0,0:0,0:44,44:104,105:40,30:NM_014847.3(UBAP2L) c.1855-73C>A,-:0.74,-:NOT_FOUND,- 1 154227292 rs397713791 G GT 56 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=363;PC=0.004;Gene=UBAP2L/NM_001127320.2/0;CC=c.1855-6dupT;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.1834-6dupT;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.1855-6dupT;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.1888-6dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:50:49:24:7:28,19,3:898,772,215:0.00,56.41,6.92:0.00,33.91,3.41:0.00,22.50,3.52:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:19.8,44.2,45.3:0,5,4:0,0,0:62,42,30:86,102,100:30,20,19:-,NM_014847.3(UBAP2L) c.1855-20_1855-19insT:-,NOT_FOUND:-,NOT_FOUND 1 154227368 . T . . NT END=154227627;NT GT ./. 1 154227804 . T . . NT END=154228158;NT GT ./. 1 154228233 . T . . NT END=154229538;NT GT ./. 1 154228287 rs1194603 T C 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2262,C/0.7738;Gene=UBAP2L/NM_001127320.2/0;CC=c.2157+56T>C;VC=Intron;Gene=UBAP2L/NM_001287815.1/0;CC=c.2136+56T>C;VC=Intron;Gene=UBAP2L/NM_014847.3/1;CC=c.2157+56T>C;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.2190+56T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:11:0:0:18,13:501,425:49.37,0.00:11.21,0.00:38.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.2,6.5:0,0:0,0:115,114:35,37:15,17:NM_014847.3(UBAP2L) c.2157+56T>C,-:0.77,-:0.60622,- 1 154229736 . T . . NT END=154229821;NT GT ./. 1 154229912 . T . . NT END=154231452;NT GT ./. 1 154231508 . T . . NT END=154232423;NT GT ./. 1 154232507 . T . . NT END=154233367;NT GT ./. 1 154233587 . T . . NT END=154234067;NT GT ./. 1 154234175 . T . . NT END=154235578;NT GT ./. 1 154235981 . C . . NT END=154238976;NT GT ./. 1 154236009 rs1194600 G C 72 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.2286,C/0.7714;PC=1.000;Gene=UBAP2L/NM_014847.3/1;CC=c.2902+1836G>C;VC=Intron;Gene=UBAP2L/NM_001287816.1/0;CC=c.2935+1836G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:53:18:0:0:24,29:762,934:71.77,0.00:15.29,0.00:56.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,11.2:0,0:0,0:94,114:57,37:37,22:NM_014847.3(UBAP2L) c.2902+1836G>C,-:0.77,-:NOT_FOUND,- 1 154239046 . T . . NT END=154241232;NT GT ./. 1 154241432 . T . . NT END=154241837;NT GT ./. 1 154241890 . T . . NT END=154242675;NT GT ./. 1 154243097 rs2282227 G A 157 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.7921,A/0.2079,C/.;PC=1.000;Gene=UBAP2L/NM_014847.3/1;CC=c.*326G>A;VC=3UTR;Gene=UBAP2L/NM_001287816.1/0;CC=c.3199-260G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:113:81:0:0:54,58,1:1649,1760,8:156.92,0.00,-0.17:94.22,0.00,-0.07:62.70,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:72.7,8.8,94.0:0,0,0:0,0,0:67,91,94:83,52,57:25,38,0:NM_014847.3(UBAP2L) c.*326G>A,-:0.27,-:NOT_FOUND,- 1 154243115 rs1044013 C T 162 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.5108,T/0.4892;PC=1.000;Gene=UBAP2L/NM_014847.3/1;CC=c.*344C>T;VC=3UTR;Gene=UBAP2L/NM_001287816.1/0;CC=c.3199-242C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:82:0:0:61,57:1958,1707:0.00,162.22:0.00,85.67:0.00,76.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,72.5:0,0:0,0:65,78:86,72:41,31:-,NM_014847.3(UBAP2L) c.*344C>T:-,0.53:-,NOT_FOUND 1 154243246 rs7554027 G GTT 46 idl,rn VT=INS;SST=Single;DP=92;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.846;Gene=UBAP2L/NM_014847.3/1;CC=c.*491_*492insTT;VC=3UTR;Gene=UBAP2L/NM_001287816.1/0;CC=c.3199-95_3199-94insTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GTT,D:79:44:24:11:50,8,17,4:1418,255,774,283:0.00,18.88,46.14,8.60:0.00,2.79,6.70,3.88:0.00,16.09,39.44,4.72:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:33.5,123.4,62.1,45.0:1,0,7,6:0,0,0,0:120,64,72,63:17,65,79,87:22,44,33,18:-,NM_014847.3(UBAP2L) c.*476T[18]:-,NOT_FOUND:-,NOT_FOUND 1 154243331 . C . . NT END=154243356;NT GT ./. 1 154243396 . G . . NT END=154245199;NT GT ./. 1 154245142 rs11556341 T G 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=HAX1/NM_001018837.1/0;CC=c.-58T>G;VC=5UTR;Gene=HAX1/NM_006118.3/1;CC=c.-58T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:63:55:0:0:1,37,25:15,1285,817:0.21,127.95,0.00:0.26,70.87,0.00:-0.05,57.07,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.0,44.3,7.1:0,0,0:0,0,0:58,55,48:93,91,102:0,24,17:NM_006118.3(HAX1) c.-58T>G,-:0.27,-:0.212659,- 1 154245253 . G . . NT END=154245811;NT GT ./. 1 154245512 rs1194593 A G 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5104,G/0.4896;Gene=HAX1/NM_001018837.1/0;CC=c.53+260A>G;VC=Intron;Gene=HAX1/NM_006118.3/1;CC=c.53+260A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:12:8:0:0:4,8:127,250:0.00,25.50:0.00,12.29:0.00,13.20:0.00,1.00:0.00,1.00:0.00,0.99:60,60:9.0,39.5:0,0:0,0:87,82:63,68:9,36:-,NM_006118.3(HAX1) c.53+260A>G:-,0.53:-,NOT_FOUND 1 154246075 . G . . NT END=154246225;NT GT ./. 1 154246438 . G . . NT END=154247425;NT GT ./. 1 154247478 . G . . NT END=154247629;NT GT ./. 1 154247737 . G . . NT END=154247868;NT GT ./. 1 154247960 . G . . NT END=154248091;NT GT ./. 1 154248178 . C . . NT END=154293631;NT GT ./. 1 154285052 rs11265530 G A 64 nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6787,A/0.3213 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:36:22:0:0:22,13,1:637,415,10:64.04,0.00,0.08:34.19,0.00,-0.06:29.85,0.00,0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:57.0,9.3,81.0:0,0,0:0,0,0:111,62,73:39,88,41:24,19,0:chr1 g.154285051G>A (intergenic),-:0.25,-:NOT_FOUND,- 1 154285078 rs11581043 T G 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5343,G/0.4657 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:27:15:0:0:16,11:420,362:41.59,0.00:15.90,0.00:25.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.8,8.9:0,0:0,0:108,74:34,77:24,15:chr1 g.154285077T>G (intergenic),-:0.44,-:NOT_FOUND,- 1 154293675 rs6668968 G A 104 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.7268,A/0.2732;PC=0.038;Gene=AQP10/NM_080429.2/1;CC=c.44G>A;ProtCh=p.R15Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:46:0:0:31,34:1083,1060:103.61,0.00:46.17,0.00:57.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,4.2:0,0:0,0:64,74:77,71:28,28:NM_080429.2(AQP10) c.44G>A (p.Arg15Gln),-:0.26,-:0.284715,- 1 154293737 . G . . NT END=154294408;NT GT ./. 1 154294536 . G . . NT END=154295457;NT GT ./. 1 154294656 rs1194607 T C 66 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.4225,C/0.5775;Gene=AQP10/NM_080429.2/1;CC=c.232+121T>C;VC=Intron;DM=AQP10/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:7:0:0:22,23:690,734:65.92,0.00:4.72,0.00:61.20,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:40.6,16.2:0,0:0,0:96,94:55,57:32,33:NM_080429.2(AQP10) c.232+121T>C,-:0.56,-:NOT_FOUND,- 1 154294805 rs1194608 T C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4225,C/0.5775;Gene=AQP10/NM_080429.2/1;CC=c.232+270T>C;VC=Intron;DM=AQP10/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:8:0:0:0:6,2:188,68:19.71,0.00:0.00,0.00:19.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.8,0.0:0,0:0,0:127,87:23,62:2,7:NM_080429.2(AQP10) c.232+270T>C,-:0.56,-:NOT_FOUND,- 1 154295592 rs6685323 C T 161 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.7067,T/0.2933;PC=0.998;Gene=AQP10/NM_080429.2/1;CC=c.367C>T;ProtCh=p.H123Y;VC=Missense;DM=AQP10/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:70:0:0:66,52:2190,1713:0.00,160.93:0.00,77.66:0.00,83.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,37.7:0,0:0,0:85,75:59,64:33,38:-,NM_080429.2(AQP10) c.367C>T (p.His123Tyr):-,0.27:-,0.299862 1 154295596 . G . . NT END=154295716;NT GT ./. 1 154295836 . G . . NT END=154296064;NT GT ./. 1 154296283 . G . . NT END=154296757;NT GT ./. 1 154296957 . T . . NT END=154300275;NT GT ./. 1 154300338 . G . . NT END=154300580;NT GT ./. 1 154300649 . G . . NT END=154301274;NT GT ./. 1 154301246 rs1194611 C A 191 nt VT=SNV;PN=G;NN=A;SST=Single;DP=179;DB;DBA=NA;PAF=C/0.4167,A/0.5833;Gene=ATP8B2/NM_001005855.1/0;CC=c.31+598C>A;VC=Intron;Gene=ATP8B2/NM_020452.3/1;CC=c.130+598C>A;VC=Intron;DM=ATP8B2/PhoLip_ATPase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:179:148:0:0:69,105,4,1:2088,3376,42,9:190.95,0.00,-0.09,-0.23:111.20,0.00,0.32,-0.11:79.75,0.00,-0.41,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:41.4,12.5,48.2,136.0:0,1,0,0:0,0,0,0:58,59,73,100:83,83,78,51:29,25,28,0:NM_020452.3(ATP8B2) c.130+598C>A,-:0.58,-:NOT_FOUND,- 1 154301552 . G . . NT END=154302871;NT GT ./. 1 154302931 . G . . NT END=154303290;NT GT ./. 1 154303405 . G . . NT END=154303523;NT GT ./. 1 154303623 . G . . NT END=154303919;NT GT ./. 1 154303705 rs12727865 C T 25 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7087,T/0.2913;Gene=ATP8B2/NM_001005855.1/0;CC=c.303+83C>T;VC=Intron;Gene=ATP8B2/NM_020452.3/1;CC=c.402+83C>T;VC=Intron;DM=ATP8B2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:5:0:0:10,8:289,268:0.00,25.26:0.00,0.80:0.00,24.46:0.00,0.99:0.00,0.94:0.00,1.00:60,60:11.2,43.1:0,0:0,0:82,82:69,69:51,24:-,NM_020452.3(ATP8B2) c.402+83C>T:-,0.27:-,NOT_FOUND 1 154303976 rs6702754 T C 66 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.7087,C/0.2913;PC=0.993;Gene=ATP8B2/NM_001005855.1/0;CC=c.360T>C;ProtCh=p.N120=;VC=Silent;Gene=ATP8B2/NM_020452.3/1;CC=c.459T>C;ProtCh=p.N153=;VC=Silent;DM=ATP8B2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:41:0:0:22,30:704,940:65.53,0.00:43.62,0.00:21.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,13.8:0,0:0,0:86,69:63,66:32,39:NM_020452.3(ATP8B2) c.459T>C (p.(=)),-:0.27,-:0.299862,- 1 154303982 . G . . NT END=154304081;NT GT ./. 1 154304155 . G . . NT END=154304429;NT GT ./. 1 154304501 . G . . NT END=154305093;NT GT ./. 1 154305010 rs1209264 A G 75 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.1056,G/0.8944;Gene=ATP8B2/NM_001005855.1/0;CC=c.510-84A>G;VC=Intron;Gene=ATP8B2/NM_020452.3/1;CC=c.609-84A>G;VC=Intron;DM=ATP8B2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:19:0:0:21:655:75.46:62.14:13.32:1.00:1.00:1.00:60:35.7:0:0:43:107:27:NM_020452.3(ATP8B2) c.609-84A>G,NM_020452.3(ATP8B2) c.609-84A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 154305174 . G . . NT END=154306582;NT GT ./. 1 154305190 rs12077870 G C 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7087,C/0.2913;PC=0.001;Gene=ATP8B2/NM_001005855.1/0;CC=c.589+17G>C;VC=Intron;Gene=ATP8B2/NM_020452.3/1;CC=c.688+17G>C;VC=Intron;DM=ATP8B2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:36:14:0:0:19,17:586,580:56.80,0.00:19.57,0.00:37.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,0.9:0,0:0,0:99,82:50,69:23,27:NM_020452.3(ATP8B2) c.688+17G>C,-:0.27,-:0.295703,- 1 154306742 . G . . NT END=154306978;NT GT ./. 1 154307068 . G . . NT END=154309823;NT GT ./. 1 154310048 rs1760795 C G 103 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.5701,G/0.4299;Gene=ATP8B2/NM_001005855.1/0;CC=c.1062C>G;ProtCh=p.L354=;VC=Silent;Gene=ATP8B2/NM_020452.3/1;CC=c.1133+28C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:83:49:0:0:49,34:1606,1116:0.00,103.41:0.00,56.84:0.00,46.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,39.4:0,0:0,0:85,79:58,61:43,31:-,NM_020452.3(ATP8B2) c.1133+28C>G:-,0.44:-,0.384054 1 154310223 rs397702073 G GA 39 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.6897,GA/0.3103;DB;DBA=NA;PAF=G/0.6897,GA/0.3103;NP=950;Gene=ATP8B2/NM_001005855.1/0;CC=c.*82dupA;VC=3UTR;Gene=ATP8B2/NM_020452.3/1;CC=c.1133+212dupA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:39:15:16:0:25,14:785,494:0.00,38.73:0.00,8.14:0.00,30.59:0.00,1.00:0.00,0.99:0.00,1.00:60,60:8.6,12.0:0,2:0,0:110,105:35,45:28,21:-,NM_020452.3(ATP8B2) c.1133+203_1133+204insA:-,0.28:-,NOT_FOUND 1 154310323 . t . . NT END=154313329;NT GT ./. 1 154313232 rs1194588 T C 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.3624,C/0.6376;Gene=ATP8B2/NM_020452.3/1;CC=c.1134-98T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:35:0:0:19,16:652,441:63.84,0.00:62.15,0.00:1.69,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:39.5,12.6:0,0:0,0:86,35:65,115:35,27:NM_020452.3(ATP8B2) c.1134-98T>C,-:0.66,-:NOT_FOUND,- 1 154313539 . G . . NT END=154314955;NT GT ./. 1 154315000 . G . . NT END=154315271;NT GT ./. 1 154315438 . G . . NT END=154315588;NT GT ./. 1 154315778 . G . . NT END=154315928;NT GT ./. 1 154315987 rs71628607 G A 99 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.9982,A/0.001797,T/.;NP=32;PC=0.001;Gene=ATP8B2/NM_020452.3/1;CC=c.1800G>A;ProtCh=p.L600=;VC=Silent;DM=ATP8B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:78:55:0:0:33,1,44:1063,5,1464:99.16,-0.22,0.00:43.96,-0.13,0.00:55.20,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,101.0,2.6:0,0,0:0,0,0:71,79,100:70,33,48:30,0,31:NM_020452.3(ATP8B2) c.1800G>A (p.(=)),-:0.0023,-:0.002845,- 1 154316045 . G . . NT END=154316368;NT GT ./. 1 154316534 . G . . NT END=154316618;NT GT ./. 1 154316731 . G . . NT END=154316848;NT GT ./. 1 154316977 . G . . NT END=154317116;NT GT ./. 1 154317153 rs1194587 C T 151 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.5801,T/0.4199;Gene=ATP8B2/NM_020452.3/1;CC=c.2277C>T;ProtCh=p.S759=;VC=Silent;DM=ATP8B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:44:0:0:23,44:681,1488:0.00,151.19:0.00,78.40:0.00,72.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,44.9:0,0:0,0:91,83:60,67:27,43:-,NM_020452.3(ATP8B2) c.2277C>T (p.(=)):-,0.44:-,0.373135 1 154317262 . G . . NT END=154317446;NT GT ./. 1 154317281 rs9660850 G A 119 nt VT=SNV;PN=A;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=ATP8B2/NM_020452.3/1;CC=c.2385+20G>A;VC=Intron;DM=ATP8B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:44:0:0:43,35:1219,1218:118.92,0.00:55.19,0.00:63.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,10.7:0,0:0,0:87,71:59,76:24,31:NM_020452.3(ATP8B2) c.2385+20G>A,-:0.12,-:0.137783,- 1 154317418 rs1194586 T C 143 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.5795,C/0.4205;PC=0.002;Gene=ATP8B2/NM_020452.3/1;CC=c.2386-29T>C;VC=Intron;DM=ATP8B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:92:69:0:0:47,45:1481,1499:142.85,0.00:82.20,0.00:60.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.7,10.8:0,0:0,0:53,52:92,90:37,31:NM_020452.3(ATP8B2) c.2386-29T>C,-:0.44,-:0.37252,- 1 154317631 . G . . NT END=154317797;NT GT ./. 1 154318022 . G . . NT END=154318275;NT GT ./. 1 154318172 rs1979575 A G 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.861,G/0.139;Gene=ATP8B2/NM_020452.3/1;CC=c.2794-104A>G;VC=Intron;DM=ATP8B2/PhoLip_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:12:0:0:9,11:276,326:0.00,31.86:0.00,13.57:0.00,18.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,45.6:0,0:0,0:36,49:114,102:31,17:-,NM_020452.3(ATP8B2) c.2794-104A>G:-,0.12:-,NOT_FOUND 1 154318360 . G . . NT END=154318706;NT GT ./. 1 154318564 rs1194585 G A 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.5793,A/0.4207;PC=0.001;Gene=ATP8B2/NM_020452.3/1;CC=c.2878-143G>A;VC=Intron;DM=ATP8B2/PhoLip_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:32:25:0:0:12,1,19:378,10,542:34.55,-0.00,0.00:26.94,0.07,0.00:7.61,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:60,60,60:34.9,64.0,24.3:0,0,0:0,0,0:76,102,76:74,48,75:39,0,64:NM_020452.3(ATP8B2) c.2878-143G>A,-:0.44,-:NOT_FOUND,- 1 154318953 . G . . NT END=154319095;NT GT ./. 1 154319235 . G . . NT END=154320883;NT GT ./. 1 154319349 rs141484625 T TTTTA 15 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=96;PC=0.001;Gene=ATP8B2/NM_020452.3/1;CC=c.3262+138_3262+139insATTT;VC=Intron;DM=ATP8B2/PhoLip_ATPase_C;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:T,TTTTA,D:28:6:7:1:20,7,1:604,184,33:0.00,15.04,2.02:0.00,5.68,-0.05:0.00,9.36,2.07:0.00,0.96,0.00:0.00,0.80,0.00:0.00,0.92,0.00:60,60,60:13.6,17.9,0.0:0,0,0:0,0,0:127,78,89:22,73,62:11,29,0:-,NM_020452.3(ATP8B2) c.3262+115_3262+116insTTTA:-,NOT_FOUND:-,NOT_FOUND 1 154321015 . G . . NT END=154321315;NT GT ./. 1 154321072 rs1194591 A G 155 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.0599,G/0.9401;Gene=ATP8B2/NM_020452.3/1;CC=c.3393+58A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:18:0:0:43:1346:154.96:44.60:110.36:1.00:1.00:1.00:60:39.8:0:0:100:41:34:NM_020452.3(ATP8B2) c.3393+58A>G,NM_020452.3(ATP8B2) c.3393+58A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 154321595 . A . . NT END=154378105;NT GT ./. 1 154327797 rs1308049 T C 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.07169,C/0.9283 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:135:15.85:3.83:12.03:1.00:1.00:1.00:60:62.8:0:0:95:42:3:chr1 g.154327796T>C (intergenic),chr1 g.154327796T>C (intergenic):0.93,0.93:NOT_FOUND,NOT_FOUND 1 154377898 rs4845617 G A 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6196,A/0.3804;PC=0.005;Gene=IL6R/NM_001206866.1/0;CC=c.-208G>A;VC=5UTR;Gene=IL6R/NM_000565.3/1;CC=c.-208G>A;VC=5UTR;Gene=IL6R/NM_181359.2/0;CC=c.-208G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:16:16:0:0:6,10:132,316:11.42,0.00:11.42,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:31.8,7.6:0,0:0,0:48,19:102,109:3,10:NM_000565.3(IL6R) c.-208G>A,-:0.38,-:NOT_FOUND,- 1 154378191 . G . . NT END=154390878;NT GT ./. 1 154390909 . G . . NT END=154401671;NT GT ./. 1 154398552 . G GACACAC 9 nt VT=INS;SST=Single;DP=10;NP=3;NP=3;NP=3;PC=0.114;Gene=IL6R/NM_001206866.1/0;CC=c.86-3087_86-3086insCACACA;VC=Intron;Gene=IL6R/NM_000565.3/1;CC=c.86-3087_86-3086insCACACA;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.86-3087_86-3086insCACACA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,G,GACACAC,D:9:10:3:2:1,4,3,1:32,139,102,67:2.49,0.00,9.44,2.69:2.52,0.00,7.84,2.72:-0.02,0.00,1.60,-0.02:0.00,0.00,0.62,0.00:0.00,0.00,0.62,0.00:0.00,0.00,0.59,0.00:60,60,60,60:95.0,8.0,16.7,53.0:0,0,0,1:0,0,0,0:0,114,46,30:119,29,96,113:0,12,9,5:-,NM_000565.3(IL6R) c.86-3120_86-3119insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 154398671 rs184275388 T C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=71;PC=0.003;Gene=IL6R/NM_001206866.1/0;CC=c.86-3001T>C;VC=Intron;Gene=IL6R/NM_000565.3/1;CC=c.86-3001T>C;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.86-3001T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:C,T:11:5:0:1:7,4:244,134:24.61,0.00:5.11,0.00:19.50,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:56.6,24.2:0,0:0,0:52,99:99,51:28,18:NM_000565.3(IL6R) c.86-3001T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 154401679 rs2228144 G A 143 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.8822,A/0.1178;Gene=IL6R/NM_001206866.1/0;CC=c.93G>A;ProtCh=p.A31=;VC=Silent;Gene=IL6R/NM_000565.3/1;CC=c.93G>A;ProtCh=p.A31=;VC=Silent;Gene=IL6R/NM_181359.2/0;CC=c.93G>A;ProtCh=p.A31=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:101:81:0:0:46,55:1515,1744:143.21,0.00:89.89,0.00:53.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,9.6:0,0:0,0:71,61:79,78:36,30:NM_000565.3(IL6R) c.93G>A (p.(=)),-:0.12,-:0.129709,- 1 154401921 . G . . NT END=154402958;NT GT ./. 1 154401972 rs6694817 T C 326 nt VT=SNV;PN=T;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.4301,C/0.5699,G/.;Gene=IL6R/NM_001206866.1/0;CC=c.334+52T>C;VC=Intron;Gene=IL6R/NM_000565.3/1;CC=c.334+52T>C;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.334+52T>C;VC=Intron;DM=IL6R/IL6Ra-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:85:40:0:0:85:2853:325.75:97.41:228.34:1.00:1.00:1.00:60:44.6:0:0:93:50:30:NM_000565.3(IL6R) c.334+52T>C,NM_000565.3(IL6R) c.334+52T>C:0.58,0.58:0.619818,0.619818 1 154403083 . G . . NT END=154406994;NT GT ./. 1 154407177 . G . . NT END=154407465;NT GT ./. 1 154407419 rs7518199 A C 136 nt VT=SNV;PN=T;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.6725,C/0.3275,T/.;Gene=IL6R/NM_001206866.1/0;CC=c.641-47A>C;VC=Intron;Gene=IL6R/NM_000565.3/1;CC=c.641-47A>C;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.641-47A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:84:71:0:0:41,43:1300,1407:0.00,135.95:0.00,86.46:0.00,49.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,41.3:0,0:0,0:55,53:95,97:40,23:-,NM_000565.3(IL6R) c.641-47A>C:-,0.35:-,0.348161 1 154407633 . G . . NT END=154408444;NT GT ./. 1 154407713 rs7521458 T C 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6999,C/0.3001;Gene=IL6R/NM_001206866.1/0;CC=c.807+81T>C;VC=Intron;Gene=IL6R/NM_000565.3/1;CC=c.807+81T>C;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.807+81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:27:5:0:0:14,1,12:421,8,339:40.95,-0.00,0.00:9.07,-0.01,0.00:31.88,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:1.00,0.00,0.00:60,40,60:40.0,246.0,19.6:0,0,0:0,0,0:104,33,106:42,104,43:21,0,22:NM_000565.3(IL6R) c.807+81T>C,-:0.32,-:NOT_FOUND,- 1 154408340 rs4845371 T C 113 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.4325,C/0.5675;Gene=IL6R/NM_001206866.1/0;CC=c.808-105T>C;VC=Intron;Gene=IL6R/NM_000565.3/1;CC=c.808-105T>C;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.808-105T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:28:0:0:31:979:112.62:94.86:17.76:1.00:1.00:1.00:60:37.4:0:0:60:91:24:NM_000565.3(IL6R) c.808-105T>C,NM_000565.3(IL6R) c.808-105T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 154408587 . G . . NT END=154420600;NT GT ./. 1 154420648 . G . . NT END=154422386;NT GT ./. 1 154420778 rs7529229 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5461,C/0.4539;PC=0.001;Gene=IL6R/NM_000565.3/1;CC=c.996+131T>C;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.996+131T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:A,C,T:9:0:0:0:1,6,2:11,154,66:0.57,16.24,0.00:0.00,0.00,0.00:0.57,16.24,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:159.0,43.5,0.0:0,0,0:0,0,0:83,73,39:67,77,111:0,25,14:NM_000565.3(IL6R) c.996+131T>C,-:0.47,-:NOT_FOUND,- 1 154422457 . G . . NT END=154426963;NT GT ./. 1 154422580 rs71586016 C CTGTGTGTG 10 idl,nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=4;Gene=IL6R/NM_000565.3/1;CC=c.1066+163_1066+164insGTGTGTGT;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.1066+163_1066+164insGTGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,CTGTGTGTG:19:5:6:0:15,4:493,183:0.00,9.85:0.00,2.84:0.00,7.02:0.00,0.70:0.00,0.64:0.00,0.94:60,60:13.7,33.8:0,2:0,0:115,59:36,91:13,11:-,NM_000565.3(IL6R) c.1066+124_1066+125insTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 154426947 rs8192283 T A 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.8223,A/0.1777;DB;DBA=NA;PAF=NA;Gene=IL6R/NM_000565.3/1;CC=c.1067-17T>A;VC=Intron;Gene=IL6R/NM_181359.2/0;CC=c.1066+4491T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:31:26:0:3:16,1,14:493,10,461:47.89,0.07,0.00:28.19,-0.16,0.00:19.70,0.23,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.7,134.0,45.9:0,0,0:0,0,0:35,49,37:111,99,113:15,0,24:NM_000565.3(IL6R) c.1067-17T>A,-:0.17,-:0.17515,- 1 154426970 rs2228145 A C 58 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=in-clinvar;PAF=A/0.7069,C/0.2931,T/.;PC=0.167;Gene=IL6R/NM_000565.3/1;CC=c.1073A>C;ProtCh=p.D358A;VC=Missense;Gene=IL6R/NM_181359.2/0;CC=c.1066+4514A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:41:33:0:0:22,19:722,612:0.00,57.94:0.00,42.01:0.00,15.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,56.7:0,0:0,0:52,59:96,91:24,22:-,NM_000565.3(IL6R) c.1073A>C (p.Asp358Ala):-,0.32:-,0.316854 1 154427058 . G . . NT END=154437609;NT GT ./. 1 154437857 . C . . NT END=154442816;NT GT ./. 1 154437896 rs2229238 T C 255 nt VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.2031,C/0.7969;Gene=IL6R/NM_000565.3/1;CC=c.*40T>C;VC=3UTR;Gene=IL6R/NM_181359.2/0;CC=c.*255T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:24:0:0:67:2236:255.49:57.72:197.77:1.00:1.00:1.00:60:42.6:0:0:104:45:25:NM_000565.3(IL6R) c.*40T>C,NM_000565.3(IL6R) c.*40T>C:0.81,0.81:0.803462,0.803462 1 154438084 rs7514452 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2053,T/0.7947;Gene=IL6R/NM_000565.3/1;CC=c.*228C>T;VC=3UTR;Gene=IL6R/NM_181359.2/0;CC=c.*443C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:36.5:0:0:77:73:20:NM_000565.3(IL6R) c.*228C>T,NM_000565.3(IL6R) c.*228C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 154442839 . C . . NT END=154451953;NT GT ./. 1 154442960 rs11265621 G A 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4471,A/0.5529 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:25:1:0:0:14,10,1:467,328,12:46.29,0.00,0.26:3.02,0.00,0.00:43.26,0.00,0.26:1.00,0.00,0.00:0.71,0.00,0.00:1.00,0.00,0.00:60,60,60:36.2,3.9,44.0:0,0,0:0,0,0:53,79,43:97,72,108:23,34,0:chr1 g.154442959G>A (intergenic),-:0.59,-:NOT_FOUND,- 1 154452100 rs4523509 A G 204 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.03894,G/0.9611;PC=0.005;Gene=SHE/NM_001010846.2/1;CC=c.*4525T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:G:58:43:0:0:58:1770:204.46:132.51:71.95:1.00:1.00:1.00:60:45.1:0:0:83:63:35:NM_001010846.2(SHE) c.*4525T>C,NM_001010846.2(SHE) c.*4525T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 154452204 rs14021 T C 100 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.8928,C/0.1072;Gene=SHE/NM_001010846.2/1;CC=c.*4421A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:72:53:0:0:1,33,38:11,1060,1260:-0.06,100.44,0.00:0.04,61.91,0.00:-0.10,38.53,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:61.0,65.1,38.3:0,0,0:0,0,0:108,62,62:42,89,83:0,20,29:NM_001010846.2(SHE) c.*4421A>G,-:0.1,-:NOT_FOUND,- 1 154452218 rs4393148 C T 297 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.1,T/0.9;Gene=SHE/NM_001010846.2/1;CC=c.*4407G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:83:60:0:0:83:2573:296.61:169.18:127.44:1.00:1.00:1.00:60:47.7:0:0:53:91:33:NM_001010846.2(SHE) c.*4407G>A,NM_001010846.2(SHE) c.*4407G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 154454338 . c . . NT END=154454768;NT GT ./. 1 154454486 . CT C 10 rn VT=DEL;SST=Single;DP=12;PC=0.061;Gene=SHE/NM_001010846.2/1;CC=c.*2138delA;VC=3UTR;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:CT,T,C:11:2:0:5:6,1,4:176,33,136:0.00,2.47,10.04:0.00,-0.08,-0.35:0.00,2.55,10.39:0.00,0.00,0.80:0.00,0.00,0.63:0.00,0.00,0.97:60,60,60:4.7,44.0,59.5:0,1,1:0,0,0:88,120,54:47,31,97:20,0,31:-,NM_001010846.2(SHE) c.*2119A[19]:-,NOT_FOUND:-,NOT_FOUND 1 154454674 rs11265623 C G 87 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.09804,G/0.902;PC=0.007;Gene=SHE/NM_001010846.2/1;CC=c.*1951G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:22:0:0:23:762:87.16:83.49:3.68:1.00:1.00:1.00:60:39.7:0:0:45:106:27:NM_001010846.2(SHE) c.*1951G>C,NM_001010846.2(SHE) c.*1951G>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 154455949 rs12568083 T C 211 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.4884,C/0.5116;PC=0.001;Gene=SHE/NM_001010846.2/1;CC=c.*676A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:120:69:0:0:67,53:2147,1691:210.74,0.00:93.03,0.00:117.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,3.5:0,0:0,0:78,67:73,78:35,36:NM_001010846.2(SHE) c.*676A>G,-:0.55,-:NOT_FOUND,- 1 154456207 . c . . NT END=154456469;NT GT ./. 1 154456313 rs67871817 CA C 150 idl,rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=CA/0.1056,C/0.8944;DB;DBA=NA;PAF=CA/0.1056,C/0.8944;DB;DBA=NA;PAF=CA/0.1056,C/0.8944;NP=23;PC=0.053;Gene=SHE/NM_001010846.2/1;CC=c.*311delT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:CA,C:50:13:0:46:6,44:197,1430:0.00,149.70:0.00,35.27:0.00,114.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,12.5:0,2:0,0:124,75:24,76:15,41:-,NM_001010846.2(SHE) c.*301T[10]:-,NOT_FOUND:-,NOT_FOUND 1 154456812 . C . . NT END=154458418;NT GT ./. 1 154458539 . C . . NT END=154459002;NT GT ./. 1 154458932 rs4845632 A G 204 nt VT=SNV;PN=A;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.09884,G/0.9012;Gene=SHE/NM_001010846.2/1;CC=c.1181+71T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:C,G:55:51:0:0:1,54:13,1785:0.30,203.77:0.00,172.08:0.30,31.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.0,37.5:0,0:0,0:6,44:144,106:0,28:NM_001010846.2(SHE) c.1181+71T>C,NM_001010846.2(SHE) c.1181+71T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 154459160 . C . . NT END=154461526;NT GT ./. 1 154459197 rs4845633 C G 220 nt VT=SNV;PN=G;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.03894,G/0.9611;Gene=SHE/NM_001010846.2/1;CC=c.1025-38G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G:60:20:0:0:60:1911:219.68:45.02:174.65:1.00:1.00:1.00:60:35.4:0:0:112:38:21:NM_001010846.2(SHE) c.1025-38G>C,NM_001010846.2(SHE) c.1025-38G>C:0.97,0.97:0.958942,0.958942 1 154461833 . C . . NT END=154471587;NT GT ./. 1 154471371 rs56233546 A G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.8862,G/0.1138;PC=0.069;Gene=SHE/NM_001010846.2/1;CC=c.718+217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:10:10:0:0:5,5:166,165:0.00,15.87:0.00,15.87:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:6.2,33.0:0,0:0,0:54,40:96,111:20,21:-,NM_001010846.2(SHE) c.718+217T>C:-,0.11:-,NOT_FOUND 1 154471715 . C . . NT END=154473911;NT GT ./. 1 154473726 rs6683078 G A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1012,A/0.8988;PC=0.002;Gene=SHE/NM_001010846.2/1;CC=c.591+186C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,G:10:10:0:0:9,1:297,12:32.66,0.00:32.66,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.9,69.0:0,0:0,0:44,138:107,13:31,0:NM_001010846.2(SHE) c.591+186C>T,NM_001010846.2(SHE) c.591+186C>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 154474131 rs4845635 C G 350 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=249;DB;DBA=NA;PAF=C/0.223,G/0.777;PC=0.008;Gene=SHE/NM_001010846.2/1;CC=c.372G>C;ProtCh=p.R124=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:249:188:0:0:1,127,121:10,3984,3678:-0.18,0.00,350.12:-0.09,0.00,182.88:-0.09,0.00,167.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:92.0,9.7,44.9:0,0,0:0,0,0:59,57,73:90,88,70:0,32,38:-,NM_001010846.2(SHE) c.372G>C (p.(=)):-,0.81:-,0.760458 1 154474503 . T . . NT END=154479379;NT GT ./. 1 154474557 rs6703672 T C 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.221,C/0.779 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:20:0:0:30,40:842,1143:77.59,0.00:14.76,0.00:62.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.2,7.5:0,0:0,0:108,102:43,48:30,32:NM_001010846.2(SHE) c.-24-u31A>G,-:0.79,-:NOT_FOUND,- 1 154479657 rs78947330 C CAT 424 PASS VT=INS;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.09784,CAT/0.9022;DB;DBA=NA;PAF=NA;NP=3014;Gene=TDRD10/NM_001098475.1/0;CC=c.3-60_3-59insAT;VC=Intron;Gene=TDRD10/NM_182499.3/1;CC=c.3-60_3-59insAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,CAT:120:79:121:0:2,118:65,3819:0.00,424.21:0.00,199.84:0.00,224.37:0.00,1.00:0.00,1.00:0.00,1.00:60,70:30.0,21.4:1,3:0,0:91,75:47,69:47,37:NM_001098475.1(TDRD10) c.3-60_3-59insAT,NM_001098475.1(TDRD10) c.3-60_3-59insAT:0.93,0.93:0.904446,0.904446 1 154479670 rs6664608 C T 190 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.4896,T/0.5104;Gene=TDRD10/NM_001098475.1/0;CC=c.3-47C>T;VC=Intron;Gene=TDRD10/NM_182499.3/1;CC=c.3-47C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:70:0:0:57,61:1685,1961:0.00,189.77:0.00,82.78:0.00,106.99:0.00,1.00:0.00,1.00:0.00,1.00:70,70:10.9,35.3:0,0:0,0:86,62:61,89:22,42:-,NM_001098475.1(TDRD10) c.3-47C>T:-,0.55:-,0.47537 1 154479797 . G . . NT END=154480898;NT GT ./. 1 154480958 . G . . NT END=154482271;NT GT ./. 1 154482347 . G . . NT END=154492779;NT GT ./. 1 154492702 rs10908842 G A 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4904,A/0.5096;PC=0.004;Gene=TDRD10/NM_001098475.1/0;CC=c.142-78G>A;VC=Intron;Gene=TDRD10/NM_182499.3/1;CC=c.142-78G>A;VC=Intron;DM=TDRD10/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:A,G:14:10:0:0:8,6:266,182:26.27,0.00:11.60,0.00:14.67,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.2,9.2:0,0:0,0:30,41:121,110:4,23:NM_001098475.1(TDRD10) c.142-78G>A,-:0.55,-:NOT_FOUND,- 1 154492851 . G . . NT END=154493798;NT GT ./. 1 154493721 rs6684225 T C 155 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.09924,C/0.9008;Gene=TDRD10/NM_001098475.1/0;CC=c.213-78T>C;VC=Intron;Gene=TDRD10/NM_182499.3/1;CC=c.213-78T>C;VC=Intron;DM=TDRD10/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:C:41:34:0:0:41:1360:155.43:109.55:45.87:1.00:1.00:1.00:60:42.9:0:0:42:107:27:NM_001098475.1(TDRD10) c.213-78T>C,NM_001098475.1(TDRD10) c.213-78T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 154493956 . G . . NT END=154514499;NT GT ./. 1 154494082 rs4269769 G C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=TDRD10/NM_001098475.1/0;CC=c.369+127G>C;VC=Intron;Gene=TDRD10/NM_182499.3/1;CC=c.369+127G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:1:0:0:14,11:413,315:40.55,0.00:-0.17,0.00:40.72,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:35.8,15.0:0,0:0,0:97,118:53,32:30,16:NM_001098475.1(TDRD10) c.369+127G>C,-:0.82,-:NOT_FOUND,- 1 154514331 rs4845647 C A 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4034,A/0.5966;Gene=TDRD10/NM_001098475.1/0;CC=c.370-169C>A;VC=Intron;Gene=TDRD10/NM_182499.3/1;CC=c.370-169C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:16:0:0:9,7:309,222:30.43,0.00:30.43,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.6,33.0:0,0:0,0:45,47:105,104:29,36:NM_001098475.1(TDRD10) c.370-169C>A,-:0.63,-:NOT_FOUND,- 1 154514338 rs4845648 A T 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.884,T/0.116;Gene=TDRD10/NM_001098475.1/0;CC=c.370-162A>T;VC=Intron;Gene=TDRD10/NM_182499.3/1;CC=c.370-162A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:17:0:0:9,8:301,247:0.00,23.41:0.00,23.41:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:35.6,32.1:0,0:0,0:52,42:98,108:29,32:-,NM_001098475.1(TDRD10) c.370-162A>T:-,0.11:-,NOT_FOUND 1 154514543 . G . . NT END=154515206;NT GT ./. 1 154515298 . G . . NT END=154516438;NT GT ./. 1 154516477 rs12750774 G A 233 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.8686,A/0.1314;PC=0.015;Gene=TDRD10/NM_001098475.1/0;CC=c.542G>A;ProtCh=p.R181Q;VC=Missense;Gene=TDRD10/NM_182499.3/1;CC=c.542G>A;ProtCh=p.R181Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:133:109:0:0:73,1,59:2376,12,1830:233.07,-0.08,0.00:137.68,-0.12,0.00:95.39,0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.2,65.0,17.5:0,0,0:0,0,0:56,26,57:93,123,88:33,0,36:NM_001098475.1(TDRD10) c.542G>A (p.Arg181Gln),-:0.16,-:0.223512,- 1 154516571 rs6678164 T C 495 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.09964,C/0.9004;PC=0.490;Gene=TDRD10/NM_001098475.1/0;CC=c.636T>C;ProtCh=p.A212=;VC=Silent;Gene=TDRD10/NM_182499.3/1;CC=c.636T>C;ProtCh=p.A212=;VC=Silent;DM=TDRD10/TUDOR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:133:95:0:0:1,132:13,4330:0.16,495.24:0.16,225.09:0.00,270.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:184.0,45.1:0,0:0,0:53,82:69,60:0,32:NM_001098475.1(TDRD10) c.=,NM_001098475.1(TDRD10) c.=:0.93,0.93:0.904813,0.904813 1 154516587 . G . . NT END=154516847;NT GT ./. 1 154516994 . G . . NT END=154517270;NT GT ./. 1 154517426 . G . . NT END=154519884;NT GT ./. 1 154520187 . C . . NT END=154522931;NT GT ./. 1 154522946 . C . . NT END=154523049;NT GT ./. 1 154523215 rs4520411 C T 670 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=C/0.08746,T/0.9125;Gene=UBE2Q1/NM_017582.6/1;CC=c.1237+199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:181:126:0:0:1,180:11,5850:0.08,670.06:0.08,362.04:0.00,308.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:151.0,40.8:0,0:0,0:18,59:129,83:0,35:NM_017582.6(UBE2Q1) c.1237+199G>A,NM_017582.6(UBE2Q1) c.1237+199G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 154523481 . C . . NT END=154523872;NT GT ./. 1 154523562 rs9427082 G T 73 nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.8806,T/0.1194;Gene=UBE2Q1/NM_017582.6/1;CC=c.1171-82C>A;VC=Intron;DM=UBE2Q1/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:49:12:0:0:25,24:762,762:0.00,72.91:0.00,17.35:0.00,55.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.1,53.2:0,0:0,0:116,117:34,31:21,18:-,NM_017582.6(UBE2Q1) c.1171-82C>A:-,0.12:-,NOT_FOUND 1 154523588 rs10908849 T G 122 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=UBE2Q1/NM_017582.6/1;CC=c.1171-108A>C;VC=Intron;DM=UBE2Q1/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:8:0:0:35:1055:122.04:18.36:103.69:1.00:1.00:1.00:60:51.4:0:0:121:27:22:NM_017582.6(UBE2Q1) c.1171-108A>C,NM_017582.6(UBE2Q1) c.1171-108A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 154523969 . C . . NT END=154524246;NT GT ./. 1 154524296 . C . . NT END=154524396;NT GT ./. 1 154524456 . C . . NT END=154524568;NT GT ./. 1 154524660 . C . . NT END=154524879;NT GT ./. 1 154524941 . C . . NT END=154525211;NT GT ./. 1 154524973 rs12144146 A G 81 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.8708,G/0.1292;PC=0.009;Gene=UBE2Q1/NM_017582.6/1;CC=c.815-33T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:26:0:0:24,26:650,833:0.00,80.69:0.00,21.64:0.00,59.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.3,42.1:0,0:0,0:105,105:42,45:29,25:-,NM_017582.6(UBE2Q1) c.815-33T>C:-,0.16:-,0.222897 1 154525297 . C . . NT END=154525507;NT GT ./. 1 154525649 . C . . NT END=154527210;NT GT ./. 1 154527262 . C . . NT END=154527903;NT GT ./. 1 154528009 . C . . NT END=154528335;NT GT ./. 1 154528053 rs56047170 G A 75 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.8207,A/0.1793;Gene=UBE2Q1/NM_017582.6/1;CC=c.433-45C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:42:19:0:0:26,1,15:744,12,512:74.95,0.15,0.00:25.86,0.27,0.00:49.09,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:71.7,64.0,23.0:0,0,0:0,0,0:101,39,109:49,112,42:35,0,21:NM_017582.6(UBE2Q1) c.433-45C>T,-:0.17,-:0.192296,- 1 154528086 rs4078519 T C 121 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.1496,C/0.8504;Gene=UBE2Q1/NM_017582.6/1;CC=c.433-78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:13:0:0:35:1049:121.46:36.34:85.12:1.00:1.00:1.00:60:58.5:0:0:79:72:50:NM_017582.6(UBE2Q1) c.433-78A>G,NM_017582.6(UBE2Q1) c.433-78A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 154528441 . C . . NT END=154530702;NT GT ./. 1 154531048 . c . . NT END=154540520;NT GT ./. 1 154531090 rs368389808 TCCG T 124 idl,rn VT=DEL;SST=Single;DP=127;DB;DBA=NA;PAF=TCCG/0.1843,T/0.8157;NP=117;PC=0.899;Gene=UBE2Q1/NM_017582.6/1;CC=c.-64_-62delCGG;VC=5UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCCG,T:123:84:0:49:78,45:2551,1492:0.00,123.57:0.00,54.57:0.00,69.00:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.2,12.0:0,4:0,0:103,79:35,68:23,24:-,NM_017582.6(UBE2Q1) c.-91CGG[9]:-,NOT_FOUND:-,NOT_FOUND 1 154540468 rs2280781 C T 201 nt VT=SNV;PN=C;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.8852,T/0.1148;Gene=CHRNB2/NM_000748.2/1;CC=c.-53C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:124:117:0:0:62,62:1933,2089:0.00,201.15:0.00,158.98:0.00,42.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,40.0:0,0:0,0:53,49:97,97:33,33:-,NM_000748.2(CHRNB2) c.-53C>T:-,0.12:-,NOT_FOUND 1 154540585 . G . . NT END=154541937;NT GT ./. 1 154542084 . G . . NT END=154542267;NT GT ./. 1 154542313 . G . . NT END=154542733;NT GT ./. 1 154542844 . G . . NT END=154543664;NT GT ./. 1 154544638 . G . . NT END=154548237;NT GT ./. 1 154548409 . G . . NT END=154557281;NT GT ./. 1 154557520 . C . . NT END=154557692;NT GT ./. 1 154557685 rs9427094 C T 181 nt VT=SNV;PN=T;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.6112,T/0.3888;PC=0.460;Gene=ADAR/NM_001193495.1/0;CC=c.2558+8G>A;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.3443+8G>A;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.3365+8G>A;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.3308+8G>A;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.2558+8G>A;VC=Intron;DM=ADAR/A_deamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:132:99:0:0:70,1,61:2399,10,1913:0.00,-0.16,181.03:0.00,-0.14,100.62:0.00,-0.02,80.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.2,179.0,39.6:0,0,0:0,0,0:63,100,63:81,51,84:34,0,32:-,NM_001025107.2(ADAR) c.2558+8G>A:-,0.41:-,0.403199 1 154557821 . C . . NT END=154558228;NT GT ./. 1 154558342 . C . . NT END=154558656;NT GT ./. 1 154558840 . C . . NT END=154560600;NT GT ./. 1 154559036 rs6683149 G C 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.08806,C/0.9119;Gene=ADAR/NM_001193495.1/0;CC=c.2135-197C>G;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.3020-197C>G;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.2942-197C>G;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.2885-197C>G;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.2135-197C>G;VC=Intron;DM=ADAR/A_deamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:301:34.83:0.00:34.83:1.00:0.00:1.00:60:43.8:0:0:81:69:28:NM_001025107.2(ADAR) c.2135-197C>G,NM_001025107.2(ADAR) c.2135-197C>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 154560735 . C . . NT END=154561026;NT GT ./. 1 154561150 . C . . NT END=154561844;NT GT ./. 1 154561261 rs9427095 G C 104 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.08866,C/0.9113;Gene=ADAR/NM_001193495.1/0;CC=c.1878-112C>G;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.2763-112C>G;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.2685-112C>G;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.2628-112C>G;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.1878-112C>G;VC=Intron;DM=ADAR/A_deamin;DM=ADAR/dsrm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:4:0:0:27:911:103.97:7.85:96.12:1.00:1.00:1.00:60:41.9:0:0:78:72:34:NM_001025107.2(ADAR) c.1878-112C>G,NM_001025107.2(ADAR) c.1878-112C>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 154561661 rs1542796 C G 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.08866,G/0.9113;Gene=ADAR/NM_001193495.1/0;CC=c.1877+184G>C;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.2762+184G>C;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.2684+184G>C;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.2627+184G>C;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.1877+184G>C;VC=Intron;DM=ADAR/A_deamin;DM=ADAR/dsrm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:265:30.73:30.73:0.00:1.00:1.00:0.00:60:41.6:0:0:46:105:10:NM_001025107.2(ADAR) c.1877+184G>C,NM_001025107.2(ADAR) c.1877+184G>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 154561939 . C . . NT END=154562232;NT GT ./. 1 154562405 . C . . NT END=154562659;NT GT ./. 1 154562623 . CCG C 8 nt VT=DEL;SST=Single;DP=55;NP=9;PC=0.086;Gene=ADAR/NM_001193495.1/0;CC=c.1611+35_1611+36delCG;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.2496+35_2496+36delCG;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.2418+113_2418+114delCG;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.2361+113_2361+114delCG;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.1611+35_1611+36delCG;VC=Intron;DM=ADAR/dsrm;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,CCG,T,C:55:42:0:4:3,47,1,4:38,1326,13,126:0.61,0.00,-0.07,8.43:0.44,0.00,0.05,4.95:0.17,0.00,-0.12,3.47:0.00,0.00,0.00,0.53:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.68:60,60,60,60:83.3,83.6,218.0,107.5:1,10,0,0:0,0,0,0:55,47,137,62:96,101,13,89:47,31,0,26:-,NM_001025107.2(ADAR) c.1611+35_1611+36delCG:-,NOT_FOUND:-,NOT_FOUND 1 154562624 rs201932953 CG C 17 sb;idl,nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=CG/0.4651,C/0.5349;NP=1651;PC=0.086;Gene=ADAR/NM_001193495.1/0;CC=c.1611+35delC;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.2496+35delC;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.2418+113delC;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.2361+113delC;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.1611+35delC;VC=Intron;DM=ADAR/dsrm;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:CG,T,C:53:39:0:12:44,1,8:1225,10,226:0.00,-0.19,16.74:0.00,-0.05,15.39:0.00,-0.14,1.35:0.00,0.00,0.96:0.00,0.00,0.99:0.00,0.00,0.93:60,60,60:85.3,218.0,66.5:0,0,0:0,0,0:40,138,56:108,12,95:28,0,33:-,NM_001025107.2(ADAR) c.1611+35delC:-,0.99:-,NOT_FOUND 1 154562625 rs7532276 G C 132 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.5389,A/.,C/0.4611;NP=356;PC=0.086;Gene=ADAR/NM_001193495.1/0;CC=c.1611+35C>G;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.2496+35C>G;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.2418+113C>G;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.2361+113C>G;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.1611+35C>G;VC=Intron;DM=ADAR/dsrm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:C,G:43:29:0:15:42,1:1144,12:132.45,0.00:81.44,0.00:51.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.6,0.0:0,0:0,0:41,11:107,136:31,0:NM_001025107.2(ADAR) c.1611+35C>G,NM_001025107.2(ADAR) c.1611+35C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 154562886 . C . . NT END=154569280;NT GT ./. 1 154569472 . C . . NT END=154569598;NT GT ./. 1 154569744 . C . . NT END=154570303;NT GT ./. 1 154570453 . C . . NT END=154570877;NT GT ./. 1 154571062 . C . . NT END=154573516;NT GT ./. 1 154571174 rs397742044 T TGGA 27 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.003994,TGGA/0.996;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.003994,TGGA/0.996;NP=3100;Gene=ADAR/NM_001193495.1/0;CC=c.717-116_717-114dupTCC;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.1602-116_1602-114dupTCC;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.1602-116_1602-114dupTCC;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.1602-116_1602-114dupTCC;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.717-116_717-114dupTCC;VC=Intron;DM=ADAR/dsrm;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TGGA:17:2:9:0:8,9:257,280:0.00,27.19:0.00,3.55:0.00,23.63:0.00,1.00:0.00,0.82:0.00,1.00:60,60:36.8,3.4:2,0:0,0:141,94:5,57:7,36:-,NM_001025107.2(ADAR) c.717-114_717-113insTCC:-,1:-,NOT_FOUND 1 154573967 rs2229857 T C 413 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.3774,C/0.6226;Gene=ADAR/NM_001193495.1/0;CC=c.266A>G;ProtCh=p.K89R;VC=Missense;Gene=ADAR/NM_001111.4/1;CC=c.1151A>G;ProtCh=p.K384R;VC=Missense;Gene=ADAR/NM_015840.3/0;CC=c.1151A>G;ProtCh=p.K384R;VC=Missense;Gene=ADAR/NM_015841.3/0;CC=c.1151A>G;ProtCh=p.K384R;VC=Missense;Gene=ADAR/NM_001025107.2/0;CC=c.266A>G;ProtCh=p.K89R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:108:74:0:0:108:3613:412.74:229.26:183.48:1.00:1.00:1.00:60:38.1:0:0:64:82:41:NM_001025107.2(ADAR) c.266A>G (p.Lys89Arg),NM_001025107.2(ADAR) c.266A>G (p.Lys89Arg):0.62,0.62:0.607873,0.607873 1 154574820 rs1466731 T C 438 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.003794,C/0.9962;NP=3482;Gene=ADAR/NM_001193495.1/0;CC=c.-588A>G;VC=5UTR;Gene=ADAR/NM_001111.4/1;CC=c.298A>G;ProtCh=p.R100G;VC=Missense;Gene=ADAR/NM_015840.3/0;CC=c.298A>G;ProtCh=p.R100G;VC=Missense;Gene=ADAR/NM_015841.3/0;CC=c.298A>G;ProtCh=p.R100G;VC=Missense;Gene=ADAR/NM_001025107.2/0;CC=c.-588A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:125:77:0:0:125:3787:437.80:217.47:220.33:1.00:1.00:1.00:60:38.2:0:0:70:79:36:NM_001025107.2(ADAR) c.=,NM_001025107.2(ADAR) c.=:1,1:0.995694,0.995694 1 154575040 rs1802645 C T 268 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.002995,T/0.997;NP=3483;Gene=ADAR/NM_001193495.1/0;CC=c.-808G>A;VC=5UTR;Gene=ADAR/NM_001111.4/1;CC=c.78G>A;ProtCh=p.R26=;VC=Silent;Gene=ADAR/NM_015840.3/0;CC=c.78G>A;ProtCh=p.R26=;VC=Silent;Gene=ADAR/NM_015841.3/0;CC=c.78G>A;ProtCh=p.R26=;VC=Silent;Gene=ADAR/NM_001025107.2/0;CC=c.-808G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:42:0:0:74:2326:267.57:107.01:160.56:1.00:1.00:1.00:60:43.2:0:0:82:65:36:NM_001025107.2(ADAR) c.-808G>A,NM_001025107.2(ADAR) c.-808G>A:1,1:0.997155,0.997155 1 154575103 . C . . NT END=154578481;NT GT ./. 1 154575336 rs4845381 A G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.006989,G/0.993;NP=276;Gene=ADAR/NM_001193495.1/0;CC=c.-870-234T>C;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.16-234T>C;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.16-234T>C;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.16-234T>C;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.-870-234T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:33.2:0:0:101:49:36:NM_001025107.2(ADAR) c.-870-234T>C,NM_001025107.2(ADAR) c.-870-234T>C:1,1:NOT_FOUND,NOT_FOUND 1 154578357 rs4845654 G A 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.003594,A/0.9964;NP=10;PC=0.007;Gene=ADAR/NM_001193495.1/0;CC=c.-871+125C>T;VC=Intron;Gene=ADAR/NM_001111.4/1;CC=c.15+2111C>T;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.15+2111C>T;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.15+2111C>T;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.-870-3255C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:584:66.98:59.43:7.55:1.00:1.00:1.00:60:32.9:0:0:32:118:16:NM_001025107.2(ADAR) c.-870-3255C>T,NM_001025107.2(ADAR) c.-870-3255C>T:1,1:NOT_FOUND,NOT_FOUND 1 154578508 . g . . NT END=154580467;NT GT ./. 1 154580458 rs58655370 C A 169 nt VT=SNV;PN=G;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.6953,A/0.3047;PC=0.001;Gene=ADAR/NM_001111.4/1;CC=c.15+10G>T;VC=Intron;Gene=ADAR/NM_015840.3/0;CC=c.15+10G>T;VC=Intron;Gene=ADAR/NM_015841.3/0;CC=c.15+10G>T;VC=Intron;Gene=ADAR/NM_001025107.2/0;CC=c.-870-5356G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:110:88:0:0:57,53:1748,1730:168.85,0.00:100.52,0.00:68.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,9.0:0,0:0,0:56,83:87,65:35,27:NM_001025107.2(ADAR) c.-870-5356G>T,-:0.25,-:0.279163,- 1 154580483 . T . . NT END=154680451;NT GT ./. 1 154613041 rs201920274 A AACACACAC 9 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;PC=0.073;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,AACACACAC:9:7:4:0:6,3:151,134:0.00,8.95:0.00,4.49:0.00,4.45:0.00,0.62:0.00,0.89:0.00,0.89:60,70:59.7,59.0:0,1:0,0:38,43:98,97:19,10:-,chr1 g.154613041_154613042insACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 154613064 rs59154051 T A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3293,A/0.6707;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:8:0:1:9:308:35.09:19.78:15.31:1.00:1.00:1.00:70:62.2:0:0:65:66:16:chr1 g.154613063T>A (intergenic),chr1 g.154613063T>A (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 1 154680749 . C . . NT END=154685939;NT GT ./. 1 154686010 . C . . NT END=154687351;NT GT ./. 1 154686680 rs62649450 C G 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=29;PC=0.001;Gene=KCNN3/NM_170782.2/0;CC=c.915-671G>C;VC=Intron;Gene=KCNN3/NM_001204087.1/0;CC=c.1875-671G>C;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.1830-671G>C;VC=Intron;DM=KCNN3/CaMBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G:5:5:0:0:1,4:32,109:0.00,11.68:0.00,6.51:0.00,5.17:0.00,0.96:0.00,0.96:0.00,1.00:60,60:0.0,107.8:0,0:0,0:72,39:72,110:0,5:-,NM_002249.5(KCNN3) c.1830-671G>C:-,NOT_FOUND:-,NOT_FOUND 1 154686715 . C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;Gene=KCNN3/NM_170782.2/0;CC=c.914+637G>A;VC=Intron;Gene=KCNN3/NM_001204087.1/0;CC=c.1874+637G>A;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.1829+637G>A;VC=Intron;DM=KCNN3/CaMBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,G,T:5:5:0:2:2,1,2:64,28,69:0.00,2.38,6.61:0.00,2.43,3.20:0.00,-0.05,3.42:0.00,0.00,0.91:0.00,0.00,0.91:0.00,0.00,0.80:60,60,60:0.0,205.0,119.0:0,0,0:0,0,0:54,80,62:93,71,34:52,0,20:-,NM_002249.5(KCNN3) c.1829+637G>A:-,NOT_FOUND:-,NOT_FOUND 1 154687087 rs150707249 TG T 15 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=19;PC=0.197;Gene=KCNN3/NM_170782.2/0;CC=c.914+264delC;VC=Intron;Gene=KCNN3/NM_001204087.1/0;CC=c.1874+264delC;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.1829+264delC;VC=Intron;DM=KCNN3/CaMBD;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:TG,T:6:6:0:7:1,5:18,142:0.00,15.42:0.00,11.92:0.00,3.50:0.00,0.99:0.00,0.99:0.00,0.98:60,60:114.0,3.6:1,0:0,0:70,79:70,50:0,11:-,NM_002249.5(KCNN3) c.1829+264delC:-,NOT_FOUND:-,NOT_FOUND 1 154687480 . C . . NT END=154698391;NT GT ./. 1 154687641 rs9919337 C T 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8011,T/0.1989;Gene=KCNN3/NM_170782.2/0;CC=c.787-162G>A;VC=Intron;Gene=KCNN3/NM_001204087.1/0;CC=c.1747-162G>A;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.1702-162G>A;VC=Intron;DM=KCNN3/CaMBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:7,8:205,242:0.00,23.50:0.00,0.00:0.00,23.50:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.3,32.1:0,0:0,0:83,100:68,50:13,36:-,NM_002249.5(KCNN3) c.1702-162G>A:-,0.22:-,NOT_FOUND 1 154698503 . C . . NT END=154705478;NT GT ./. 1 154705621 . C . . NT END=154744450;NT GT ./. 1 154744807 rs1051614 C G 221 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=NA;PC=0.693;Gene=KCNN3/NM_170782.2/0;CC=c.177G>C;ProtCh=p.L59=;VC=Silent;Gene=KCNN3/NM_001204087.1/0;CC=c.1092G>C;ProtCh=p.L364=;VC=Silent;Gene=KCNN3/NM_002249.5/1;CC=c.1092G>C;ProtCh=p.L364=;VC=Silent;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:129:74:0:0:63,66:2090,2281:0.00,220.80:0.00,89.28:0.00,131.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.9,61.4:0,0:0,0:90,86:59,58:30,29:-,NM_002249.5(KCNN3) c.1092G>C (p.(=)):-,0.53:-,0.581578 1 154744852 rs1131820 A G 384 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.2208,G/0.7792;Gene=KCNN3/NM_170782.2/0;CC=c.132T>C;ProtCh=p.N44=;VC=Silent;Gene=KCNN3/NM_001204087.1/0;CC=c.1047T>C;ProtCh=p.N349=;VC=Silent;Gene=KCNN3/NM_002249.5/1;CC=c.1047T>C;ProtCh=p.N349=;VC=Silent;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:104:46:0:0:104:3347:384.16:105.35:278.81:1.00:1.00:1.00:60:59.2:0:0:92:51:35:NM_002249.5(KCNN3) c.1047T>C (p.(=)),NM_002249.5(KCNN3) c.1047T>C (p.(=)):0.79,0.79:0.705136,0.705136 1 154744870 . C . . NT END=154794564;NT GT ./. 1 154744937 rs11589471 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.6633,T/0.3367;Gene=KCNN3/NM_170782.2/0;CC=c.115-68G>A;VC=Intron;Gene=KCNN3/NM_001204087.1/0;CC=c.1030-68G>A;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.1030-68G>A;VC=Intron;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:9:0:0:19,23:652,698:0.00,68.10:0.00,13.39:0.00,54.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,73.1:0,0:0,0:98,103:53,48:28,21:-,NM_002249.5(KCNN3) c.1030-68G>A:-,0.34:-,NOT_FOUND 1 154745031 rs11584403 T G 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5535,G/0.4465;Gene=KCNN3/NM_170782.2/0;CC=c.115-162A>C;VC=Intron;Gene=KCNN3/NM_001204087.1/0;CC=c.1030-162A>C;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.1030-162A>C;VC=Intron;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:14:0:0:0:7,7:228,221:21.92,0.00:0.00,0.00:21.92,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:54.6,17.4:0,0:0,0:117,121:34,30:32,12:NM_002249.5(KCNN3) c.1030-162A>C,-:0.44,-:NOT_FOUND,- 1 154794661 . C . . NT END=154832170;NT GT ./. 1 154832304 rs4845397 T C 293 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.2827,C/0.7173;Gene=KCNN3/NM_170782.2/0;CC=c.-116A>G;VC=5UTR;Gene=KCNN3/NM_001204087.1/0;CC=c.933+9204A>G;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.933+9204A>G;VC=Intron;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:40:0:0:76:2567:292.87:92.56:200.32:1.00:1.00:1.00:60:67.5:0:0:82:68:36:NM_002249.5(KCNN3) c.933+9204A>G,NM_002249.5(KCNN3) c.933+9204A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 154832322 rs1218586 A C 283 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.04213,C/0.9579;Gene=KCNN3/NM_170782.2/0;CC=c.-134T>G;VC=5UTR;Gene=KCNN3/NM_001204087.1/0;CC=c.933+9186T>G;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.933+9186T>G;VC=Intron;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:73:29:0:0:73:2477:282.51:64.62:217.89:1.00:1.00:1.00:60:69.8:0:0:85:63:33:NM_002249.5(KCNN3) c.933+9186T>G,NM_002249.5(KCNN3) c.933+9186T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 154832339 . C . . NT END=154840424;NT GT ./. 1 154840287 rs10908444 G A 72 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.348,A/0.652;Gene=KCNN3/NM_001204087.1/0;CC=c.933+1221C>T;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.933+1221C>T;VC=Intron;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:17:0:0:19:625:71.54:62.30:9.24:1.00:1.00:1.00:60:40.9:0:0:40:100:22:NM_002249.5(KCNN3) c.933+1221C>T,NM_002249.5(KCNN3) c.933+1221C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 154840516 rs7531728 C A 384 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.5002,A/0.4998;PC=0.003;Gene=KCNN3/NM_001204087.1/0;CC=c.933+992G>T;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.933+992G>T;VC=Intron;DM=KCNN3/SK_channel GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:106:76:0:0:104,2:3358,22:384.43,0.45:225.58,0.14:158.85,0.31:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,28.5:0,0:0,0:80,105:63,44:29,20:NM_002249.5(KCNN3) c.933+992G>T,NM_002249.5(KCNN3) c.933+992G>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 154840846 . T . . NT END=154841507;NT GT ./. 1 154841376 . ATCTCTC A 26 idl,rn VT=DEL;SST=Single;DP=16;NP=36;PC=0.121;Gene=KCNN3/NM_001204087.1/0;CC=c.933+126_933+131delGAGAGA;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.933+126_933+131delGAGAGA;VC=Intron;DM=KCNN3/SK_channel;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:ATCTCTC,C,A:14:14:0:11:5,1,8:136,31,324:0.00,2.23,26.01:0.00,2.26,23.04:0.00,-0.03,2.97:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,0.79:60,43,60:9.6,125.0,38.4:0,0,2:0,0,0:130,1,44:21,150,103:19,0,7:-,NM_002249.5(KCNN3) c.933+126_933+131delGAGAGA:-,NOT_FOUND:-,NOT_FOUND 1 154841415 rs57846577 TCTCTCTCTCTCACA T 68 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1540;PC=0.001;Gene=KCNN3/NM_001204087.1/0;CC=c.933+79_933+92delTGTGAGAGAGAGAG;VC=Intron;Gene=KCNN3/NM_002249.5/1;CC=c.933+79_933+92delTGTGAGAGAGAGAG;VC=Intron;DM=KCNN3/SK_channel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:17:0:20:20:582:67.71:54.64:13.07:1.00:1.00:1.00:70:30.1:0:0:42:108:21:NM_002249.5(KCNN3) c.933+79_933+92delTGTGAGAGAGAGAG,NM_002249.5(KCNN3) c.933+79_933+92delTGTGAGAGAGAGAG:0.52,0.52:NOT_FOUND,NOT_FOUND 1 154842199 rs56352724 G GGCTGCTGCTGCTGCT 107 idl VT=INS;SST=Single;DP=181;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=1.000;Gene=KCNN3/NM_001204087.1/0;CC=c.241_242insAGCAGCAGCAGCAGC;ProtCh=p.Q80_P81insQQQQQ;VC=InFrameIns;Gene=KCNN3/NM_002249.5/1;CC=c.241_242insAGCAGCAGCAGCAGC;ProtCh=p.Q80_P81insQQQQQ;VC=InFrameIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GGCTGCTGCTGCTGCT,D:165:126:59:1:120,1,43,1:3888,32,1713,34:0.00,1.16,106.89,1.35:0.00,1.31,80.07,1.51:0.00,-0.16,26.82,-0.16:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:11.3,74.0,13.0,0.0:1,0,16,0:0,0,0,0:106,0,42,59:41,151,107,92:20,0,15,0:-,NM_002249.5(KCNN3) c.200AGC[19] (p.Gln67[19]):-,NOT_FOUND:-,NOT_FOUND 1 154842441 . C . . NT END=154897603;NT GT ./. 1 154844853 rs543444475 AACACACAC A 13 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AACACACAC/0.4387,A/0.5613;NP=19;PC=0.029;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:AACACACAC,A:8:8:0:7:3,5:90,190:0.00,12.50:0.00,8.09:0.00,4.41:0.00,0.95:0.00,0.87:0.00,0.96:60,60:20.7,66.0:0,2:0,0:70,24:46,103:14,8:-,NM_002249.5(KCNN3) c.-314-u2107_-314-u2100delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 154897742 . C . . NT END=154898828;NT GT ./. 1 154898960 . C . . NT END=154901498;NT GT ./. 1 154901653 . C . . NT END=154904826;NT GT ./. 1 154904892 . C . . NT END=154908869;NT GT ./. 1 154909016 . G . . NT END=154909066;NT GT ./. 1 154909162 . G . . NT END=154917499;NT GT ./. 1 154909268 rs1109815 A G 163 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.3462,G/0.6538;Gene=PMVK/NM_006556.3/1;CC=c.-107T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:5:0:0:44:1423:163.16:13.02:150.14:1.00:1.00:1.00:60:49.3:0:0:97:53:26:NM_006556.3(PMVK) c.-107T>C,NM_006556.3(PMVK) c.-107T>C:0.64,0.64:NOT_FOUND,NOT_FOUND 1 154917314 rs705094 G A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4864,A/0.5136;Gene=PBXIP1/NM_020524.2/1;CC=c.*186C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:258:30.05:30.05:0.00:1.00:1.00:0.00:60:59.0:0:0:40:111:19:NM_020524.2(PBXIP1) c.*186C>T,NM_020524.2(PBXIP1) c.*186C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 154917594 . C . . NT END=154918047;NT GT ./. 1 154917701 rs906594 A G 63 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.02017,G/0.9798;Gene=PBXIP1/NM_020524.2/1;CC=c.2103-108T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:1:0:0:17:548:62.86:3.28:59.59:1.00:1.00:1.00:60:45.2:0:0:110:40:30:NM_020524.2(PBXIP1) c.2103-108T>C,NM_020524.2(PBXIP1) c.2103-108T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 154919080 rs2061690 C T 564 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=160;DB;DBA=NA;PAF=C/0.484,T/0.516;Gene=PBXIP1/NM_020524.2/1;CC=c.1070G>A;ProtCh=p.G357D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:160:104:0:0:2,158:22,4923:0.00,563.71:0.00,299.31:0.00,264.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,35.3:0,0:0,0:62,76:87,74:55,36:NM_020524.2(PBXIP1) c.1070G>A (p.Gly357Asp),NM_020524.2(PBXIP1) c.1070G>A (p.Gly357Asp):0.52,0.52:0.35622,0.35622 1 154919280 . C . . NT END=154919892;NT GT ./. 1 154919565 rs3738026 A G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4347,G/0.5653;Gene=PBXIP1/NM_020524.2/1;CC=c.871-286T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:4:0:0:7:218:25.13:13.40:11.73:1.00:1.00:1.00:54:43.9:0:0:23:128:22:NM_020524.2(PBXIP1) c.871-286T>C,NM_020524.2(PBXIP1) c.871-286T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 154920025 . C . . NT END=154920117;NT GT ./. 1 154920189 . C . . NT END=154920457;NT GT ./. 1 154920482 . C . . NT END=154920608;NT GT ./. 1 154920843 . C . . NT END=154923707;NT GT ./. 1 154923874 . C . . NT END=154923946;NT GT ./. 1 154924012 . C . . NT END=154924270;NT GT ./. 1 154924398 . C . . NT END=154926146;NT GT ./. 1 154926234 . C . . NT END=154927430;NT GT ./. 1 154927449 . T . . NT END=154931254;NT GT ./. 1 154932323 . C . . NT END=154933452;NT GT ./. 1 154933503 . C . . NT END=154933949;NT GT ./. 1 154934053 . G . . NT END=154936278;NT GT ./. 1 154936408 . C . . NT END=154937767;NT GT ./. 1 154938258 . C . . NT END=154938421;NT GT ./. 1 154938557 . C . . NT END=154938637;NT GT ./. 1 154938708 . C . . NT END=154938794;NT GT ./. 1 154938994 . C . . NT END=154940146;NT GT ./. 1 154940274 . C . . NT END=154940455;NT GT ./. 1 154940508 . C . . NT END=154940679;NT GT ./. 1 154940734 . C . . NT END=154940970;NT GT ./. 1 154941091 . C . . NT END=154941246;NT GT ./. 1 154941311 . C . . NT END=154941853;NT GT ./. 1 154941593 rs4845401 C G 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5096,G/0.4904;Gene=SHC1/NM_001130040.1/0;CC=c.566+261G>C;VC=Intron;Gene=SHC1/NM_183001.4/0;CC=c.566+261G>C;VC=Intron;Gene=SHC1/NM_001130041.1/0;CC=c.236+261G>C;VC=Intron;Gene=SHC1/NM_001202859.1/0;CC=c.101+261G>C;VC=Intron;Gene=SHC1/NM_003029.4/1;CC=c.236+261G>C;VC=Intron;DM=SHC1/PID;DM=SHC1/PID;DM=SHC1/PID;DM=SHC1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:4:0:0:7:186:21.84:12.03:9.81:1.00:1.00:1.00:60:37.1:0:0:105:45:37:NM_003029.4(SHC1) c.236+261G>C,NM_003029.4(SHC1) c.236+261G>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 154941925 . C . . NT END=154942507;NT GT ./. 1 154943003 . A . . NT END=154947221;NT GT ./. 1 154947389 . G . . NT END=154950462;NT GT ./. 1 154950591 . G . . NT END=154951200;NT GT ./. 1 154951254 . A . . NT END=154956170;NT GT ./. 1 154956543 . G . . NT END=154960396;NT GT ./. 1 154958495 rs369354584 C CTG 9 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;NP=5;PC=0.409;Gene=FLAD1/NM_001184892.1/0;CC=c.-564-1409_-564-1408insTG;VC=Intron;Gene=FLAD1/NM_001184891.1/0;CC=c.81+1991_81+1992insTG;VC=Intron;Gene=FLAD1/NM_025207.4/1;CC=c.372+1991_372+1992insTG;VC=Intron;Gene=FLAD1/NM_201398.2/0;CC=c.81+1991_81+1992insTG;VC=Intron;DM=FLAD1/PAPS_reduct;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,CTG,D:9:9:3:2:4,3,2:139,99,63:0.00,9.20,5.51:0.00,5.97,5.62:0.00,3.22,-0.11:0.00,0.64,0.00:0.00,0.64,0.00:0.00,0.81,0.00:60,60,60:19.5,3.0,33.5:0,0,0:0,0,0:68,46,47:58,105,103:26,19,12:-,NM_025207.4(FLAD1) c.372+1953_372+1954insTG:-,NOT_FOUND:-,NOT_FOUND 1 154961489 . t . . NT END=154962035;NT GT ./. 1 154962184 . G . . NT END=154962634;NT GT ./. 1 154962734 . G . . NT END=154962814;NT GT ./. 1 154963005 . G . . NT END=154965040;NT GT ./. 1 154965146 . A . . NT END=154965188;NT GT ./. 1 154965514 . C . . NT END=154966083;NT GT ./. 1 154966270 . T . . NT END=154983395;NT GT ./. 1 154983492 . G . . NT END=154986490;NT GT ./. 1 154983539 rs6686021 C T 73 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.5417,T/0.4583;PC=0.997;Gene=ZBTB7B/NM_001252406.2/1;CC=c.96+48C>T;VC=Intron;Gene=ZBTB7B/NM_001256455.1/0;CC=c.-6-3592C>T;VC=Intron;Gene=ZBTB7B/NR_045515.1/0;VC=NonCoding;Gene=ZBTB7B/NR_046206.1/0;VC=NonCoding;Gene=ZBTB7B/NR_049765.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:17:0:0:16,23:478,734:0.00,72.90:0.00,25.00:0.00,47.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.1,49.1:0,0:0,0:111,107:37,44:27,21:-,NM_001252406.2(ZBTB7B) c.96+48C>T:-,0.45:-,NOT_FOUND 1 154986570 . G . . NT END=154987130;NT GT ./. 1 154986793 rs3820225 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3478,T/0.6522;Gene=ZBTB7B/NM_001252406.2/1;CC=c.97-338C>T;VC=Intron;Gene=ZBTB7B/NM_001256455.1/0;CC=c.-6-338C>T;VC=Intron;Gene=ZBTB7B/NR_045515.1/0;VC=NonCoding;Gene=ZBTB7B/NR_046206.1/0;VC=NonCoding;Gene=ZBTB7B/NR_049765.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:10:1:0:0:5,5:169,127:0.00,12.07:0.00,-0.30:0.00,12.37:0.00,0.95:0.00,0.67:0.00,1.00:60,60:6.0,36.2:0,0:0,0:83,107:68,44:40,27:-,NM_001252406.2(ZBTB7B) c.97-338C>T:-,0.62:-,NOT_FOUND 1 154987526 rs11264295 C T 344 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=256;DB;DBA=NA;PAF=C/0.3822,T/0.6178;PC=0.999;Gene=ZBTB7B/NM_001252406.2/1;CC=c.492C>T;ProtCh=p.I164=;VC=Silent;Gene=ZBTB7B/NM_001256455.1/0;CC=c.390C>T;ProtCh=p.I130=;VC=Silent;Gene=ZBTB7B/NR_045515.1/0;VC=NonCoding;Gene=ZBTB7B/NR_046206.1/0;VC=NonCoding;Gene=ZBTB7B/NR_049765.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:256:172:0:0:1,139,116:8,4517,3646:-0.22,0.00,343.56:-0.10,0.00,159.25:-0.11,0.00,184.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:163.0,8.2,35.9:0,0,0:0,0,0:119,74,70:25,73,78:0,32,32:-,NM_001252406.2(ZBTB7B) c.492C>T (p.(=)):-,0.6:-,0.440258 1 154988291 . G . . NT END=154988695;NT GT ./. 1 154988957 rs2242195 A G 244 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=A/0.3265,G/0.6735;Gene=ZBTB7B/NM_001252406.2/1;CC=c.1518A>G;ProtCh=p.P506=;VC=Silent;Gene=ZBTB7B/NM_001256455.1/0;CC=c.1416A>G;ProtCh=p.P472=;VC=Silent;Gene=ZBTB7B/NR_045515.1/0;VC=NonCoding;Gene=ZBTB7B/NR_046206.1/0;VC=NonCoding;Gene=ZBTB7B/NR_049765.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:167:104:0:0:86,1,80:2536,9,2558:0.00,-0.18,244.07:0.00,-0.08,116.37:0.00,-0.09,127.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.3,18.0,40.5:0,0,0:0,0,0:81,27,83:57,124,65:31,0,29:-,NM_001252406.2(ZBTB7B) c.1518A>G (p.(=)):-,0.65:-,0.54175 1 154989162 . A . . NT END=154991019;NT GT ./. 1 154991237 . C . . NT END=154995592;NT GT ./. 1 154991389 rs905938 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.8247,C/0.1753;Gene=DCST2/NM_144622.2/1;CC=c.2106-153A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:10,12:270,313:25.16,0.00:0.00,0.00:25.16,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.7,16.1:0,0:0,0:107,100:42,48:34,38:NM_144622.2(DCST2) c.2106-153A>G,-:0.19,-:NOT_FOUND,- 1 154995503 rs2242193 G A 110 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.381,A/0.619;PC=0.002;Gene=DCST2/NM_144622.2/1;CC=c.2105+90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:59:0:0:35,27:1114,873:109.66,0.00:92.73,0.00:16.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,5.4:0,0:0,0:65,45:86,106:34,35:NM_144622.2(DCST2) c.2105+90C>T,-:0.59,-:NOT_FOUND,- 1 154995734 . C . . NT END=154995839;NT GT ./. 1 154995934 . C . . NT END=154996028;NT GT ./. 1 154996097 . C . . NT END=154996307;NT GT ./. 1 154996436 . C . . NT END=154996947;NT GT ./. 1 154996815 rs112745976 G A 98 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.988,A/0.01198;Gene=DCST2/NM_144622.2/1;CC=c.1742+133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:62:0:0:32,31:1016,842:97.91,0.00:96.42,0.00:1.48,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:44.6,11.4:0,0:0,0:52,50:99,101:23,18:NM_144622.2(DCST2) c.1742+133C>T,-:0.01,-:NOT_FOUND,- 1 154997079 . C . . NT END=154998777;NT GT ./. 1 154998879 . C . . NT END=154999023;NT GT ./. 1 154999192 . C . . NT END=155001708;NT GT ./. 1 155001874 . C . . NT END=155002559;NT GT ./. 1 155001929 rs10908452 T C 82 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.4329,C/0.5671;PC=0.001;Gene=DCST2/NM_144622.2/1;CC=c.1178-56A>G;VC=Intron;DM=DCST2/DC_STAMP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:17:0:0:26,17:819,531:81.74,0.00:26.88,0.00:54.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.2,15.9:0,0:0,0:89,86:55,52:25,40:NM_144622.2(DCST2) c.1178-56A>G,-:0.54,-:NOT_FOUND,- 1 155002718 . C . . NT END=155002907;NT GT ./. 1 155003122 . C . . NT END=155003644;NT GT ./. 1 155003711 . C . . NT END=155004049;NT GT ./. 1 155004248 . C . . NT END=155005142;NT GT ./. 1 155005245 . C . . NT END=155005569;NT GT ./. 1 155005741 . C . . NT END=155005909;NT GT ./. 1 155006091 rs10908453 A G 248 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=A/0.4012,G/0.5988;PC=0.263;Gene=DCST2/NM_144622.2/1;CC=c.87T>C;ProtCh=p.G29=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:155:106:0:0:76,1,78:2257,12,2569:0.00,-0.10,247.75:0.00,-0.10,135.76:0.00,0.01,111.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.4,24.0,39.8:0,0,0:0,0,0:83,82,82:65,69,68:35,0,36:-,NM_144622.2(DCST2) c.87T>C (p.(=)):-,0.57:-,0.410503 1 155006178 . G . . NT END=155006512;NT GT ./. 1 155006450 rs74520550 C A 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.8834,A/0.1166;Gene=DCST1/NM_001143687.2/0;CC=c.-63C>A;VC=5UTR;Gene=DCST1/NM_152494.3/1;CC=c.-63C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:43:27:0:0:21,22:714,690:68.50,0.00:32.66,0.00:35.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.7,20.1:0,0:0,0:52,60:99,90:44,28:NM_152494.3(DCST1) c.-63C>A,-:0.12,-:0.17915,- 1 155006451 rs76306191 C G 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.8832,G/0.1168;Gene=DCST1/NM_001143687.2/0;CC=c.-62C>G;VC=5UTR;Gene=DCST1/NM_152494.3/1;CC=c.-62C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:44:28:0:0:23,21:759,731:0.00,69.89:0.00,34.10:0.00,35.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.7,77.7:0,0:0,0:57,78:94,72:31,43:-,NM_152494.3(DCST1) c.-62C>G:-,0.12:-,0.180245 1 155006574 . G . . NT END=155006813;NT GT ./. 1 155006999 rs6680600 C T 171 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.4343,T/0.5657;PC=0.995;Gene=DCST1/NM_001143687.2/0;CC=c.150C>T;ProtCh=p.L50=;VC=Silent;Gene=DCST1/NM_152494.3/1;CC=c.150C>T;ProtCh=p.L50=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:123:79:0:0:1,64,58:9,2146,1801:-0.16,0.00,171.02:-0.10,0.00,78.25:-0.06,0.00,92.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:93.0,5.7,40.1:0,0,0:0,0,0:60,79,82:87,68,64:0,31,29:-,NM_152494.3(DCST1) c.150C>T (p.(=)):-,0.54:-,0.373597 1 155007037 . G . . NT END=155007128;NT GT ./. 1 155007204 . G . . NT END=155011878;NT GT ./. 1 155007293 rs4845404 C T 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4341,T/0.5659;PC=0.010;Gene=DCST1/NM_001143687.2/0;CC=c.187+257C>T;VC=Intron;Gene=DCST1/NM_152494.3/1;CC=c.262+90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:4:0:0:11,9:325,300:0.00,28.34:0.00,3.14:0.00,25.20:0.00,1.00:0.00,0.91:0.00,1.00:60,60:36.1,64.6:0,0:0,0:109,99:42,52:28,28:-,NM_152494.3(DCST1) c.262+90C>T:-,0.54:-,NOT_FOUND 1 155007302 rs4845405 C A 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4331,A/0.5669;Gene=DCST1/NM_001143687.2/0;CC=c.187+266C>A;VC=Intron;Gene=DCST1/NM_152494.3/1;CC=c.262+99C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:3:0:0:9,13:293,364:27.14,0.00:1.45,0.00:25.69,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:63.7,30.5:0,0:0,0:80,113:71,35:28,33:NM_152494.3(DCST1) c.262+99C>A,-:0.54,-:NOT_FOUND,- 1 155012008 . G . . NT END=155012960;NT GT ./. 1 155012778 . CA C 14 idl,rn VT=DEL;SST=Single;DP=25;PC=0.057;Gene=DCST1/NM_001143687.2/0;CC=c.317-164delA;VC=Intron;Gene=DCST1/NM_152494.3/1;CC=c.392-164delA;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CA,I,C:23:25:6:5:14,4,5:448,190,160:0.00,10.37,13.54:0.00,10.37,13.54:0.00,0.00,0.00:0.00,0.00,0.83:0.00,0.00,0.83:0.00,0.00,0.00:60,60,60:33.9,25.5,46.4:0,2,0:0,0,0:24,13,39:126,136,109:19,7,5:-,NM_152494.3(DCST1) c.392-182delA:-,NOT_FOUND:-,NOT_FOUND 1 155013101 . G . . NT END=155013872;NT GT ./. 1 155014090 . G . . NT END=155014189;NT GT ./. 1 155014334 . G . . NT END=155015210;NT GT ./. 1 155014426 rs55668940 G A 106 nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.896,A/0.104;Gene=DCST1/NM_001143687.2/0;CC=c.817+93G>A;VC=Intron;Gene=DCST1/NM_152494.3/1;CC=c.892+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:9:0:0:34,26:1074,846:105.81,0.00:7.40,0.00:98.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,5.0:0,0:0,0:72,105:79,45:48,28:NM_152494.3(DCST1) c.892+93G>A,-:0.13,-:NOT_FOUND,- 1 155015333 . g . . NT END=155015827;NT GT ./. 1 155015986 . G . . NT END=155018368;NT GT ./. 1 155018469 . G . . NT END=155018600;NT GT ./. 1 155018697 . G . . NT END=155018835;NT GT ./. 1 155018963 . G . . NT END=155019671;NT GT ./. 1 155019076 rs71077975 C CTTTTT 7 idl,nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=6;Gene=DCST1/NM_001143687.2/0;CC=c.1420+132_1420+133insTTTTT;VC=Intron;Gene=DCST1/NM_152494.3/1;CC=c.1495+132_1495+133insTTTTT;VC=Intron;Gene=LOC100505666/NR_040772.1/0;VC=NonCoding;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;DM=DCST1/DC_STAMP;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,CTTTTT,D:22:5:8:2:18,3,1:510,236,67:0.00,6.74,2.15:0.00,-0.17,-0.06:0.00,6.91,2.21:0.00,0.44,0.00:0.00,0.42,0.00:0.00,0.87,0.00:60,60,60:20.4,137.0,0.0:0,5,1:0,0,0:140,104,83:11,46,68:8,10,44:-,NM_152494.3(DCST1) c.1495+114_1495+115insTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 155019789 . G . . NT END=155020262;NT GT ./. 1 155020406 . G . . NT END=155020532;NT GT ./. 1 155020647 . G . . NT END=155023092;NT GT ./. 1 155023345 . A . . NT END=155023862;NT GT ./. 1 155023942 . G . . NT END=155025006;NT GT ./. 1 155025036 . G . . NT END=155025116;NT GT ./. 1 155025254 . G . . NT END=155025892;NT GT ./. 1 155025970 . G . . NT END=155026385;NT GT ./. 1 155026114 rs6660884 C T 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5172,T/0.4828;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;Gene=ADAM15/NM_001261466.1/0;CC=c.216-272C>T;VC=Intron;Gene=ADAM15/NM_001261464.1/0;CC=c.293+145C>T;VC=Intron;Gene=ADAM15/NM_001261465.1/0;CC=c.263+145C>T;VC=Intron;Gene=ADAM15/NM_003815.4/0;CC=c.263+145C>T;VC=Intron;Gene=ADAM15/NM_207191.2/0;CC=c.263+145C>T;VC=Intron;Gene=ADAM15/NM_207194.2/0;CC=c.263+145C>T;VC=Intron;Gene=ADAM15/NM_207195.2/0;CC=c.263+145C>T;VC=Intron;Gene=ADAM15/NM_207196.2/0;CC=c.263+145C>T;VC=Intron;Gene=ADAM15/NM_207197.2/1;CC=c.263+145C>T;VC=Intron;Gene=ADAM15/NR_048577.1/0;VC=NonCoding;Gene=ADAM15/NR_048578.1/0;VC=NonCoding;Gene=ADAM15/NR_048579.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:4:0:0:15:460:53.15:13.40:39.74:1.00:1.00:1.00:60:53.6:0:0:105:46:43:NM_207197.2(ADAM15) c.263+145C>T,NM_207197.2(ADAM15) c.263+145C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 155026465 . G . . NT END=155026625;NT GT ./. 1 155026703 . G . . NT END=155026789;NT GT ./. 1 155026942 rs6427128 A C 367 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.09804,C/0.902,T/.;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;Gene=ADAM15/NM_001261466.1/0;CC=c.524A>C;ProtCh=p.K175T;VC=Missense;Gene=ADAM15/NM_001261464.1/0;CC=c.602A>C;ProtCh=p.K201T;VC=Missense;Gene=ADAM15/NM_001261465.1/0;CC=c.572A>C;ProtCh=p.K191T;VC=Missense;Gene=ADAM15/NM_003815.4/0;CC=c.572A>C;ProtCh=p.K191T;VC=Missense;Gene=ADAM15/NM_207191.2/0;CC=c.572A>C;ProtCh=p.K191T;VC=Missense;Gene=ADAM15/NM_207194.2/0;CC=c.572A>C;ProtCh=p.K191T;VC=Missense;Gene=ADAM15/NM_207195.2/0;CC=c.572A>C;ProtCh=p.K191T;VC=Missense;Gene=ADAM15/NM_207196.2/0;CC=c.572A>C;ProtCh=p.K191T;VC=Missense;Gene=ADAM15/NM_207197.2/1;CC=c.572A>C;ProtCh=p.K191T;VC=Missense;Gene=ADAM15/NR_048577.1/0;VC=NonCoding;Gene=ADAM15/NR_048578.1/0;VC=NonCoding;Gene=ADAM15/NR_048579.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:104:61:0:0:103,1:3190,9:367.18,0.08:160.75,0.00:206.43,0.08:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,18.0:0,0:0,0:82,4:63,145:35,0:NM_207197.2(ADAM15) c.572A>C (p.Lys191Thr),NM_207197.2(ADAM15) c.572A>C (p.Lys191Thr):0.9,0.9:0.87229,0.87229 1 155026983 . G . . NT END=155028265;NT GT ./. 1 155028329 . G . . NT END=155028407;NT GT ./. 1 155028477 . G . . NT END=155028555;NT GT ./. 1 155028522 rs11264302 G A 359 nt VT=SNV;PN=G;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.6683,A/0.3317;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;Gene=ADAM15/NM_001261466.1/0;CC=c.697-34G>A;VC=Intron;Gene=ADAM15/NM_001261464.1/0;CC=c.775-34G>A;VC=Intron;Gene=ADAM15/NM_001261465.1/0;CC=c.745-34G>A;VC=Intron;Gene=ADAM15/NM_003815.4/0;CC=c.745-34G>A;VC=Intron;Gene=ADAM15/NM_207191.2/0;CC=c.745-34G>A;VC=Intron;Gene=ADAM15/NM_207194.2/0;CC=c.745-34G>A;VC=Intron;Gene=ADAM15/NM_207195.2/0;CC=c.745-34G>A;VC=Intron;Gene=ADAM15/NM_207196.2/0;CC=c.745-34G>A;VC=Intron;Gene=ADAM15/NM_207197.2/1;CC=c.745-34G>A;VC=Intron;Gene=ADAM15/NR_048577.1/0;VC=NonCoding;Gene=ADAM15/NR_048578.1/0;VC=NonCoding;Gene=ADAM15/NR_048579.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:110:69:0:0:107,3:3140,38:359.46,0.00:162.19,0.00:197.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,124.7:0,0:0,0:67,79:83,72:35,8:NM_207197.2(ADAM15) c.745-34G>A,NM_207197.2(ADAM15) c.745-34G>A:0.35,0.35:0.516608,0.516608 1 155028726 . G . . NT END=155028861;NT GT ./. 1 155028947 . G . . NT END=155029428;NT GT ./. 1 155029578 . G . . NT END=155029663;NT GT ./. 1 155029839 . G . . NT END=155030112;NT GT ./. 1 155030206 . G . . NT END=155030326;NT GT ./. 1 155030557 rs11264303 A C 610 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=A/0.6755,C/0.3245,T/.;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;Gene=ADAM15/NM_001261466.1/0;CC=c.1599A>C;ProtCh=p.T533=;VC=Silent;Gene=ADAM15/NM_001261464.1/0;CC=c.1677A>C;ProtCh=p.T559=;VC=Silent;Gene=ADAM15/NM_001261465.1/0;CC=c.1647A>C;ProtCh=p.T549=;VC=Silent;Gene=ADAM15/NM_003815.4/0;CC=c.1647A>C;ProtCh=p.T549=;VC=Silent;Gene=ADAM15/NM_207191.2/0;CC=c.1647A>C;ProtCh=p.T549=;VC=Silent;Gene=ADAM15/NM_207194.2/0;CC=c.1647A>C;ProtCh=p.T549=;VC=Silent;Gene=ADAM15/NM_207195.2/0;CC=c.1647A>C;ProtCh=p.T549=;VC=Silent;Gene=ADAM15/NM_207196.2/0;CC=c.1647A>C;ProtCh=p.T549=;VC=Silent;Gene=ADAM15/NM_207197.2/1;CC=c.1647A>C;ProtCh=p.T549=;VC=Silent;Gene=ADAM15/NR_048577.1/0;VC=NonCoding;Gene=ADAM15/NR_048578.1/0;VC=NonCoding;Gene=ADAM15/NR_048579.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:174:111:0:0:174:5280:610.41:298.89:311.52:1.00:1.00:1.00:60:36.3:0:0:70:73:35:NM_207197.2(ADAM15) c.1647A>C (p.(=)),NM_207197.2(ADAM15) c.1647A>C (p.(=)):0.34,0.34:0.510687,0.510687 1 155030632 . G . . NT END=155030721;NT GT ./. 1 155031160 . T . . NT END=155031185;NT GT ./. 1 155031264 . G . . NT END=155032377;NT GT ./. 1 155032451 . G . . NT END=155032680;NT GT ./. 1 155032820 . G . . NT END=155033238;NT GT ./. 1 155033309 . G . . NT END=155033890;NT GT ./. 1 155033317 rs11264304 T C 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.3033,C/0.6967;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;Gene=ADAM15/NM_001261464.1/0;CC=c.2307+9T>C;VC=Intron;Gene=ADAM15/NM_001261465.1/0;CC=c.2207+498T>C;VC=Intron;Gene=ADAM15/NM_003815.4/0;CC=c.2277+9T>C;VC=Intron;Gene=ADAM15/NM_207191.2/0;CC=c.2207+498T>C;VC=Intron;Gene=ADAM15/NM_207194.2/0;CC=c.2277+9T>C;VC=Intron;Gene=ADAM15/NM_207195.2/0;CC=c.2277+9T>C;VC=Intron;Gene=ADAM15/NM_207196.2/0;CC=c.2277+9T>C;VC=Intron;Gene=ADAM15/NM_207197.2/1;CC=c.2277+9T>C;VC=Intron;Gene=ADAM15/NR_048577.1/0;VC=NonCoding;Gene=ADAM15/NR_048578.1/0;VC=NonCoding;Gene=ADAM15/NR_048579.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:19:0:0:34:1012:117.23:46.96:70.26:1.00:1.00:1.00:60:37.8:0:0:93:50:34:NM_207197.2(ADAM15) c.2277+9T>C,NM_207197.2(ADAM15) c.2277+9T>C:0.7,0.7:0.638628,0.638628 1 155033918 rs41264285 C T 118 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.8668,T/0.1332;PC=0.636;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;Gene=ADAM15/NM_001261464.1/0;CC=c.2307+610C>T;VC=Intron;Gene=ADAM15/NM_001261465.1/0;CC=c.2232C>T;ProtCh=p.P744=;VC=Silent;Gene=ADAM15/NM_003815.4/0;CC=c.2277+610C>T;VC=Intron;Gene=ADAM15/NM_207191.2/0;CC=c.2208-803C>T;VC=Intron;Gene=ADAM15/NM_207194.2/0;CC=c.2305C>T;ProtCh=p.P769S;VC=Missense;Gene=ADAM15/NM_207195.2/0;CC=c.2278-462C>T;VC=Intron;Gene=ADAM15/NM_207196.2/0;CC=c.2302C>T;ProtCh=p.P768S;VC=Missense;Gene=ADAM15/NM_207197.2/1;CC=c.2305C>T;ProtCh=p.P769S;VC=Missense;Gene=ADAM15/NR_048577.1/0;VC=NonCoding;Gene=ADAM15/NR_048578.1/0;VC=NonCoding;Gene=ADAM15/NR_048579.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:43:0:0:22,37:731,1171:0.00,117.78:0.00,61.69:0.00,56.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,40.5:0,0:0,0:59,78:66,68:30,35:-,NM_207197.2(ADAM15) c.2305C>T (p.Pro769Ser):-,0.13:-,0.209365 1 155033966 . G . . NT END=155034379;NT GT ./. 1 155034594 . G . . NT END=155034720;NT GT ./. 1 155034632 rs45444697 C G 155 nt VT=SNV;PN=C;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.9071,G/0.09285;Gene=LOC100505666/NR_040773.1/0;VC=NonCoding;Gene=ADAM15/NM_001261464.1/0;CC=c.2308-89C>G;VC=Intron;Gene=ADAM15/NM_001261465.1/0;CC=c.2280-89C>G;VC=Intron;Gene=ADAM15/NM_003815.4/0;CC=c.2278-89C>G;VC=Intron;Gene=ADAM15/NM_207191.2/0;CC=c.2208-89C>G;VC=Intron;Gene=ADAM15/NM_207194.2/0;CC=c.2353-89C>G;VC=Intron;Gene=ADAM15/NM_207195.2/0;CC=c.2350-89C>G;VC=Intron;Gene=ADAM15/NM_207196.2/0;CC=c.2422-89C>G;VC=Intron;Gene=ADAM15/NM_207197.2/1;CC=c.2425-89C>G;VC=Intron;Gene=ADAM15/NR_048577.1/0;VC=NonCoding;Gene=ADAM15/NR_048578.1/0;VC=NonCoding;Gene=ADAM15/NR_048579.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:100:66:0:0:48,51,1:1502,1604,9:0.00,154.92,-0.13:0.00,77.87,-0.11:0.00,77.05,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:18.5,49.8,57.0:0,0,0:0,0,0:52,66,58:98,80,93:36,37,0:-,NM_207197.2(ADAM15) c.2425-89C>G:-,0.1:-,NOT_FOUND 1 155034846 . G . . NT END=155034935;NT GT ./. 1 155034979 . C . . NT END=155036299;NT GT ./. 1 155036413 . G . . NT END=155039205;NT GT ./. 1 155039493 . G . . NT END=155039847;NT GT ./. 1 155039917 . G . . NT END=155041328;NT GT ./. 1 155041650 . A . . NT END=155051417;NT GT ./. 1 155051546 . G . . NT END=155057566;NT GT ./. 1 155057499 rs3766918 A G 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.012;Gene=EFNA3/NM_004952.4/1;CC=c.129-68A>G;VC=Intron;DM=EFNA3/Ephrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:52:0:0:34,22:1046,649:0.00,59.08:0.00,50.72:0.00,8.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,46.5:0,0:0,0:58,51:93,98:28,26:-,NM_004952.4(EFNA3) c.129-68A>G:-,0.71:-,NOT_FOUND 1 155057881 . G . . NT END=155058352;NT GT ./. 1 155058419 . G . . NT END=155058603;NT GT ./. 1 155058682 . G . . NT END=155058888;NT GT ./. 1 155059020 . C . . NT END=155100453;NT GT ./. 1 155100265 rs11264331 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3333,G/0.6667;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:9:9:0:0:5,4:132,100:0.00,9.15:0.00,9.15:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:35.4,33.2:0,0:0,0:27,45:123,106:16,18:-,NM_004428.2(EFNA1) c.-105-u84A>G:-,0.62:-,NOT_FOUND 1 155100546 . G . . NT END=155102991;NT GT ./. 1 155103147 rs6665822 C A 198 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.3608,A/0.6392;PC=0.009;Gene=EFNA1/NM_004428.2/1;CC=c.93-668C>A;VC=Intron;Gene=EFNA1/NM_182685.1/0;CC=c.93-668C>A;VC=Intron;DM=EFNA1/Ephrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:131:82:0:0:63,68:2070,2078:197.68,0.00:92.41,0.00:105.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,6.3:0,0:0,0:70,74:75,74:35,30:NM_004428.2(EFNA1) c.93-668C>A,-:0.65,-:NOT_FOUND,- 1 155103531 . G . . NT END=155103814;NT GT ./. 1 155104111 . G . . NT END=155105978;NT GT ./. 1 155106045 . G . . NT END=155106205;NT GT ./. 1 155106054 rs4390169 A G 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.6803,G/0.3197;Gene=EFNA1/NM_004428.2/1;CC=c.454+10A>G;VC=Intron;Gene=EFNA1/NM_182685.1/0;CC=c.389-152A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:79:51:0:0:43,36:1464,1085:0.00,102.00:0.00,42.11:0.00,59.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,37.1:0,0:0,0:85,71:65,80:38,29:-,NM_004428.2(EFNA1) c.454+10A>G:-,0.31:-,0.408581 1 155106227 rs4745 A T 93 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.6801,T/0.3199;PC=0.002;Gene=EFNA1/NM_004428.2/1;CC=c.476A>T;ProtCh=p.D159V;VC=Missense;Gene=EFNA1/NM_182685.1/0;CC=c.410A>T;ProtCh=p.D137V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:81:57:0:0:48,1,32:1483,9,1013:0.00,-0.16,93.18:0.00,-0.05,54.10:0.00,-0.11,39.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,12,60:7.1,189.0,43.5:0,0,0:0,0,0:55,92,71:92,26,77:27,0,30:-,NM_004428.2(EFNA1) c.476A>T (p.Asp159Val):-,0.31:-,0.408504 1 155106257 . G . . NT END=155106430;NT GT ./. 1 155106544 . A . . NT END=155108062;NT GT ./. 1 155106550 rs9297 A G 97 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.5158,G/0.4842;Gene=EFNA1/NM_004428.2/1;CC=c.*7A>G;VC=3UTR;Gene=EFNA1/NM_182685.1/0;CC=c.*7A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:34:0:0:34,30:1112,1015:0.00,96.60:0.00,36.73:0.00,59.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,37.8:0,0:0,0:112,109:34,33:24,28:-,NM_004428.2(EFNA1) c.*7A>G:-,0.51:-,0.365216 1 155106697 rs12904 G A 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5112,A/0.4888;PC=1.000;Gene=EFNA1/NM_004428.2/1;CC=c.*154G>A;VC=3UTR;Gene=EFNA1/NM_182685.1/0;CC=c.*154G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:7,7:223,214:21.43,0.00:0.00,0.00:21.43,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:36.6,5.9:0,0:0,0:104,91:47,60:26,27:NM_004428.2(EFNA1) c.*154G>A,-:0.52,-:NOT_FOUND,- 1 155108157 . G . . NT END=155108262;NT GT ./. 1 155108287 rs11264333 G A 305 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=220;DB;DBA=NA;PAF=G/0.4964,A/0.5036;Gene=SLC50A1/NM_001287590.1/0;CC=c.9+131G>A;VC=Intron;Gene=SLC50A1/NM_001287591.1/0;CC=c.-17+213G>A;VC=Intron;Gene=SLC50A1/NM_001287592.1/0;CC=c.12+213G>A;VC=Intron;Gene=SLC50A1/NM_001122837.1/0;CC=c.-141-1G>A;VC=5UTR;Gene=SLC50A1/NM_001122839.1/0;CC=c.-100-1G>A;VC=5UTR;Gene=SLC50A1/NM_001287586.1/0;CC=c.-141-1G>A;VC=5UTR;Gene=SLC50A1/NM_001287587.1/0;CC=c.-141-1G>A;VC=5UTR;Gene=SLC50A1/NM_001287588.1/0;CC=c.-141-1G>A;VC=5UTR;Gene=SLC50A1/NM_001287589.1/0;CC=c.-141-1G>A;VC=5UTR;Gene=SLC50A1/NM_018845.3/1;CC=c.-100-1G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:220:163:0:0:103,117:3217,3999:304.66,0.00:159.08,0.00:145.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,9.6:0,0:0,0:74,76:65,72:30,36:NM_018845.3(SLC50A1) c.-100-u1G>A,-:0.53,-:NOT_FOUND,- 1 155108468 . G . . NT END=155108774;NT GT ./. 1 155108663 rs56367425 A AG 71 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.01917,AG/0.9776;DB;DBA=NA;PAF=A/0.01917,AC/0.003195,AG/0.9776,AGG/.;NP=1;NP=544;Gene=SLC50A1/NM_001287590.1/0;CC=c.10-107dupG;VC=Intron;Gene=SLC50A1/NM_001287591.1/0;CC=c.-16-107dupG;VC=Intron;Gene=SLC50A1/NM_001287592.1/0;CC=c.13-107dupG;VC=Intron;Gene=SLC50A1/NM_001122837.1/0;CC=c.40-107dupG;VC=Intron;Gene=SLC50A1/NM_001122839.1/0;CC=c.81-107dupG;VC=Intron;Gene=SLC50A1/NM_001287586.1/0;CC=c.20+220dupG;VC=Intron;Gene=SLC50A1/NM_001287587.1/0;CC=c.40-107dupG;VC=Intron;Gene=SLC50A1/NM_001287588.1/0;CC=c.40-107dupG;VC=Intron;Gene=SLC50A1/NM_001287589.1/0;CC=c.40-107dupG;VC=Intron;Gene=SLC50A1/NM_018845.3/1;CC=c.81-107dupG;VC=Intron;DM=SLC50A1/MtN3_slv;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A,AG:22:22:21:1:1,21:8,626:0.00,71.20:0.00,71.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:91.0,8.1:1,0:0,0:57,79:94,72:0,36:NM_018845.3(SLC50A1) c.81-112_81-111insG,NM_018845.3(SLC50A1) c.81-112_81-111insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 155108873 . G . . NT END=155109303;NT GT ./. 1 155109218 . CA C 19 idl,rn VT=DEL;SST=Single;DP=60;NP=14;PC=0.003;Gene=SLC50A1/NM_001287590.1/0;CC=c.87+379delA;VC=Intron;Gene=SLC50A1/NM_001287591.1/0;CC=c.63-73delA;VC=Intron;Gene=SLC50A1/NM_001287592.1/0;CC=c.90+379delA;VC=Intron;Gene=SLC50A1/NM_001122837.1/0;CC=c.117+379delA;VC=Intron;Gene=SLC50A1/NM_001122839.1/0;CC=c.159-73delA;VC=Intron;Gene=SLC50A1/NM_001287586.1/0;CC=c.21-73delA;VC=Intron;Gene=SLC50A1/NM_001287587.1/0;CC=c.138-73delA;VC=Intron;Gene=SLC50A1/NM_001287588.1/0;CC=c.117+379delA;VC=Intron;Gene=SLC50A1/NM_001287589.1/0;CC=c.117+379delA;VC=Intron;Gene=SLC50A1/NM_018845.3/1;CC=c.159-73delA;VC=Intron;DM=SLC50A1/MtN3_slv;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,CA,I,C:60:55:7:9:1,43,7,9:10,1358,209,253:-0.16,0.00,15.41,19.17:-0.26,0.00,13.99,17.98:0.10,0.00,1.42,1.19:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.88:60,60,60,60:10.0,15.6,19.1,16.1:0,1,0,0:0,0,0,0:29,42,28,33:122,106,123,117:0,22,18,18:-,NM_018845.3(SLC50A1) c.159-85delA:-,NOT_FOUND:-,NOT_FOUND 1 155109428 . G . . NT END=155110036;NT GT ./. 1 155110199 . G . . NT END=155110454;NT GT ./. 1 155110575 . G . . NT END=155110655;NT GT ./. 1 155110758 . G . . NT END=155112437;NT GT ./. 1 155112807 . t . . NT END=155141898;NT GT ./. 1 155133066 rs59041390 G GGTGTGTGT 10 sb;idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6264,GGT/0.3736,GGTGT/.,GGTGTGT/.;DB;DBA=NA;PAF=G/0.6264,GGT/0.3736,GGTGT/.,GGTGTGTGT/.;NP=1;NP=126;NP=9;PC=0.012;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GGTGTGTGT:4:5:7:0:4:189:10.26:8.31:1.94:0.99:0.98:0.97:60:19.2:3:0:33:115:13:chr1 g.155133066_155133067insGTGTGTGT (intergenic),chr1 g.155133066_155133067insGTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 155142037 . C . . NT END=155142262;NT GT ./. 1 155142210 rs4421576 A G 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.3744,G/0.6256;Gene=KRTCAP2/NM_173852.3/1;CC=c.368+57T>C;VC=Intron;DM=KRTCAP2/Keratin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:49:22:0:0:26,23:847,710:0.00,67.24:0.00,37.63:0.00,29.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,71.5:0,0:0,0:63,60:87,89:35,39:-,NM_173852.3(KRTCAP2) c.368+57T>C:-,0.65:-,0.532852 1 155142229 rs4276914 G A 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.3746,A/0.6254;PC=0.001;Gene=KRTCAP2/NM_173852.3/1;CC=c.368+38C>T;VC=Intron;DM=KRTCAP2/Keratin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:24:0:0:22,30:713,907:66.40,0.00:32.23,0.00:34.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.5,7.5:0,0:0,0:64,63:86,86:39,40:NM_173852.3(KRTCAP2) c.368+38C>T,-:0.65,-:0.541256,- 1 155142334 . C . . NT END=155143890;NT GT ./. 1 155143768 rs4971091 G T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5439,T/0.4561;Gene=KRTCAP2/NM_173852.3/1;CC=c.301+1273C>A;VC=Intron;DM=KRTCAP2/Keratin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:14:14:0:0:7,7:193,239:0.00,23.03:0.00,23.03:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:15.3,44.7:0,0:0,0:42,79:109,72:17,15:-,NM_173852.3(KRTCAP2) c.301+1273C>A:-,0.47:-,NOT_FOUND 1 155143894 rs535061279 CA C 32 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=CA/0.9537,C/0.04633;PC=0.001;Gene=KRTCAP2/NM_173852.3/1;CC=c.301+1146delT;VC=Intron;DM=KRTCAP2/Keratin_assoc;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:CA,I,C:47:51:11:16:27,8,12:911,359,486:0.00,21.51,32.04:0.00,21.58,21.06:0.00,-0.07,10.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.85:60,60,70:39.1,69.0,51.9:0,3,4:0,0,0:59,33,31:91,117,110:28,12,25:-,NM_173852.3(KRTCAP2) c.301+1146delT:-,NOT_FOUND:-,NOT_FOUND 1 155143946 rs4971092 C T 272 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.06589,T/0.9341;Gene=KRTCAP2/NM_173852.3/1;CC=c.301+1095G>A;VC=Intron;DM=KRTCAP2/Keratin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:85:71:0:0:2,1,82:23,12,2357:0.57,0.00,271.81:0.57,0.00,176.65:0.00,0.00,95.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:98.5,115.0,40.2:0,0,0:0,0,0:64,136,59:80,13,87:1,0,30:NM_173852.3(KRTCAP2) c.301+1095G>A,NM_173852.3(KRTCAP2) c.301+1095G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 155144074 . c . . NT END=155144332;NT GT ./. 1 155144300 rs4971093 G A 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.5593,A/0.4407;PC=0.001;Gene=KRTCAP2/NM_173852.3/1;CC=c.301+741C>T;VC=Intron;DM=KRTCAP2/Keratin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:26:0:0:16,15:521,496:50.41,0.00:46.39,0.00:4.02,0.00:1.00,0.00:1.00,0.00:0.99,0.00:70,60:52.8,12.8:0,0:0,0:40,28:104,117:14,26:NM_173852.3(KRTCAP2) c.301+741C>T,-:0.47,-:NOT_FOUND,- 1 155144323 . C CA 43 idl,rn VT=INS;SST=Single;DP=42;PC=0.002;Gene=KRTCAP2/NM_173852.3/1;CC=c.301+717_301+718insT;VC=Intron;DM=KRTCAP2/Keratin_assoc;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:36:39:16:13:14,14,8:452,518,364:0.00,42.74,21.87:0.00,41.26,21.96:0.00,1.47,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.81,0.00:60,70,60:29.8,44.5,41.4:0,2,4:0,0,0:20,47,36:130,103,107:11,23,18:-,NM_173852.3(KRTCAP2) c.301+717_301+718insT:-,NOT_FOUND:-,NOT_FOUND 1 155144966 . C . . NT END=155145040;NT GT ./. 1 155145105 . C . . NT END=155145213;NT GT ./. 1 155145369 . C . . NT END=155145696;NT GT ./. 1 155145779 . G . . NT END=155146442;NT GT ./. 1 155146516 . G . . NT END=155146965;NT GT ./. 1 155147118 . G . . NT END=155147229;NT GT ./. 1 155147445 . G . . NT END=155147661;NT GT ./. 1 155147749 . G . . NT END=155147861;NT GT ./. 1 155148124 . G . . NT END=155148363;NT GT ./. 1 155148708 . G . . NT END=155149407;NT GT ./. 1 155148781 rs4971059 G A 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.5701,A/0.4299;PC=0.001;Gene=TRIM46/NM_001282379.1/0;CC=c.669+74G>A;VC=Intron;Gene=TRIM46/NR_104150.1/0;VC=NonCoding;Gene=TRIM46/NM_001256599.1/0;CC=c.600+74G>A;VC=Intron;Gene=TRIM46/NM_001256600.1/1;CC=c.630+74G>A;VC=Intron;Gene=TRIM46/NM_001282378.1/0;CC=c.291+74G>A;VC=Intron;Gene=TRIM46/NM_025058.4/0;CC=c.669+74G>A;VC=Intron;Gene=TRIM46/NR_046327.1/0;VC=NonCoding;Gene=TRIM46/NM_001256601.1/0;CC=c.630+74G>A;VC=Intron;Gene=TRIM46/NR_046329.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:1:0:0:16,13:516,422:50.55,0.00:1.86,0.00:48.69,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:45.4,1.9:0,0:0,0:72,93:78,58:28,28:NM_025058.4(TRIM46) c.669+74G>A,-:0.46,-:NOT_FOUND,- 1 155149552 . G . . NT END=155149670;NT GT ./. 1 155149718 rs3814316 G A 133 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.5541,A/0.4459;PC=0.001;Gene=TRIM46/NM_001282379.1/0;CC=c.861G>A;ProtCh=p.T287=;VC=Silent;Gene=TRIM46/NR_104150.1/0;VC=NonCoding;Gene=TRIM46/NM_001256599.1/0;CC=c.792G>A;ProtCh=p.T264=;VC=Silent;Gene=TRIM46/NM_001256600.1/1;CC=c.822G>A;ProtCh=p.T274=;VC=Silent;Gene=TRIM46/NM_001282378.1/0;CC=c.483G>A;ProtCh=p.T161=;VC=Silent;Gene=TRIM46/NM_025058.4/0;CC=c.861G>A;ProtCh=p.T287=;VC=Silent;Gene=TRIM46/NR_046327.1/0;VC=NonCoding;Gene=TRIM46/NM_001256601.1/0;CC=c.822G>A;ProtCh=p.T274=;VC=Silent;Gene=TRIM46/NR_046329.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:79:39:0:0:42,1,36:1359,7,1132:132.57,-0.15,0.00:40.51,-0.08,0.00:92.06,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.9,97.0,6.5:0,0,0:0,0,0:85,27,74:64,122,75:37,0,36:NM_025058.4(TRIM46) c.861G>A (p.(=)),-:0.48,-:0.327926,- 1 155149767 . G . . NT END=155150477;NT GT ./. 1 155150732 . G . . NT END=155150967;NT GT ./. 1 155151090 . G . . NT END=155151284;NT GT ./. 1 155151323 . G . . NT END=155152107;NT GT ./. 1 155151493 rs11264341 C T 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5449,T/0.4551;Gene=TRIM46/NM_001282379.1/0;CC=c.1285+404C>T;VC=Intron;Gene=TRIM46/NR_104150.1/0;VC=NonCoding;Gene=TRIM46/NM_001256599.1/0;CC=c.1216+404C>T;VC=Intron;Gene=TRIM46/NM_001256600.1/1;CC=c.1159+404C>T;VC=Intron;Gene=TRIM46/NM_001282378.1/0;CC=c.907+404C>T;VC=Intron;Gene=TRIM46/NM_025058.4/0;CC=c.1285+404C>T;VC=Intron;Gene=TRIM46/NR_046327.1/0;VC=NonCoding;Gene=TRIM46/NM_001256601.1/0;CC=c.1246+404C>T;VC=Intron;Gene=TRIM46/NR_046329.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:8:0:0:0:2,6:68,195:0.00,20.41:0.00,0.00:0.00,20.41:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.5,34.5:0,0:0,0:123,83:27,66:14,36:-,NM_025058.4(TRIM46) c.1285+404C>T:-,0.49:-,NOT_FOUND 1 155152411 . G . . NT END=155154327;NT GT ./. 1 155154626 . G . . NT END=155156272;NT GT ./. 1 155156667 . G . . NT END=155158609;NT GT ./. 1 155158686 . C . . NT END=155158691;NT GT ./. 1 155158944 rs58446580 G GGT 148 idl,rn VT=INS;SST=Single;DP=228;DB;DBA=NA;PAF=G/0.4708,GGT/0.4802,GGTGT/0.04892;DB;DBA=NA;PAF=G/0.4708,GGT/0.4802,GGTGT/0.04892;NP=4;Gene=MUC1/NM_001018016.2/0;CC=c.721-260_721-259insAC;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.694-260_694-259insAC;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.538-260_538-259insAC;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.379-260_379-259insAC;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.406-260_406-259insAC;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.*29-260_*29-259insAC;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.1354-260_1354-259insAC;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.1381-260_1381-259insAC;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.775-260_775-259insAC;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.*29-260_*29-259insAC;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.643-260_643-259insAC;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.580-260_580-259insAC;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.652-260_652-259insAC;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.646-260_646-259insAC;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.*29-260_*29-259insAC;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.619-260_619-259insAC;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.496-260_496-259insAC;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.565-260_565-259insAC;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.460-260_460-259insAC;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.748-260_748-259insAC;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GGT,D:226:148:57:24:2,145,56,23:24,4641,1754,726:-0.28,0.00,147.95,50.78:-0.26,0.00,72.76,23.88:-0.02,0.00,75.19,26.91:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:74.0,14.8,12.6,4.7:0,4,1,1:0,0,0,0:88,97,75,78:52,51,73,65:54,33,28,26:-,NM_002456.5(MUC1) c.748-260_748-259insAC:-,NOT_FOUND:-,NOT_FOUND 1 155159851 . C . . NT END=155159929;NT GT ./. 1 155160053 . C . . NT END=155160196;NT GT ./. 1 155160335 . C . . NT END=155160482;NT GT ./. 1 155160540 . C . . NT END=155160638;NT GT ./. 1 155161059 rs201871405 A G 22 lc VT=SNV;PN=C;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=NA;Gene=MUC1/NM_001018016.2/0;CC=c.187-352T>C;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-352T>C;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-371T>C;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-352T>C;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-352T>C;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-371T>C;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.468T>C;ProtCh=p.H156=;VC=Silent;Gene=MUC1/NM_001204286.1/0;CC=c.495T>C;ProtCh=p.H165=;VC=Silent;Gene=MUC1/NM_001204287.1/0;CC=c.187-298T>C;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-352T>C;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-529T>C;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-529T>C;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-520T>C;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-371T>C;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-298T>C;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-371T>C;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-352T>C;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-371T>C;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-298T>C;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-298T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,C,G,T:139:96:0:0:121,1,16,1:3250,8,349,13:0.00,-0.32,21.88,-0.22:0.00,-0.16,17.35,-0.06:0.00,-0.16,4.53,-0.16:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:23.1,111.0,72.6,21.0:0,0,0,0:0,0,0,0:96,118,90,86:45,33,22,20:28,0,25,0:-,NM_002456.5(MUC1) c.160-298T>C:-,NOT_FOUND:-,NOT_FOUND 1 155161096 . g . . NT END=155161641;NT GT ./. 1 155161168 rs12743084 C G 107 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MUC1/NM_001018016.2/0;CC=c.187-461G>C;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-461G>C;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-480G>C;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-461G>C;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-461G>C;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-480G>C;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-105G>C;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-105G>C;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-407G>C;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-461G>C;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-638G>C;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-638G>C;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-629G>C;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-480G>C;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-407G>C;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-480G>C;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-461G>C;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-480G>C;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-407G>C;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-407G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:C,G:47:35:0:1:12,35:233,1015:0.00,106.77:0.00,64.57:0.00,42.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.8,89.5:0,0:0,0:72,74:48,72:22,24:-,NM_002456.5(MUC1) c.160-407G>C:-,0.58:-,NOT_FOUND 1 155161174 rs542470348 G C 11 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=0.005;Gene=MUC1/NM_001018016.2/0;CC=c.187-467C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-467C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-486C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-467C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-467C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-486C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-111C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-111C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-413C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-467C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-644C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-644C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-635C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-486C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-413C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-486C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-467C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-486C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-413C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-413C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:C,G:50:38:0:0:6,44:157,1316:10.65,0.00:11.82,0.00:-1.17,0.00:0.85,0.00:0.97,0.00:0.93,0.00:23,60:199.8,81.0:1,0:0,0:22,82:117,54:1,19:NM_002456.5(MUC1) c.160-413C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161176 . G C 16 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;PC=0.001;Gene=MUC1/NM_001018016.2/0;CC=c.187-469C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-469C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-488C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-469C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-469C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-488C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-113C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-113C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-415C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-469C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-646C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-646C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-637C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-488C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-415C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-488C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-469C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-488C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-415C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-415C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:C,G:52:40:0:0:7,45:214,1380:15.85,0.00:17.16,0.00:-1.31,0.00:0.92,0.00:0.98,0.00:0.96,0.00:23,60:194.7,83.9:1,0:0,0:24,83:127,53:3,19:NM_002456.5(MUC1) c.160-415C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161205 . G C 35 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=60;Gene=MUC1/NM_001018016.2/0;CC=c.187-498C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-498C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-517C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-498C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-498C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-517C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-142C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-142C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-444C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-498C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-675C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-675C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-666C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-517C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-444C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-517C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-498C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-517C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-444C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-444C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:60:45:0:0:14,45,1:420,1375,12:34.66,0.00,-0.09:36.14,0.00,0.08:-1.49,0.00,-0.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:30,60,11:200.8,71.8,104.0:0,0,0:0,0,0:29,102,44:110,41,102:6,25,0:NM_002456.5(MUC1) c.160-444C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161209 rs12728535 T C 41 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=2;Gene=MUC1/NM_001018016.2/0;CC=c.187-502A>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-502A>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-521A>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-502A>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-502A>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-521A>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-146A>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-146A>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-448A>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-502A>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-679A>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-679A>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-670A>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-521A>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-448A>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-521A>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-502A>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-521A>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-448A>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-448A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:53:39:0:0:1,14,7,31:8,462,176,764:-0.15,40.71,12.95,0.00:0.01,43.29,13.03,0.00:-0.16,-2.58,-0.08,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:12,37,55,60:228.0,195.3,96.1,60.2:0,0,0,0:0,0,0,0:57,34,45,109:94,99,98,31:0,6,24,25:NM_002456.5(MUC1) c.160-448A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161234 rs61811943 G C 31 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=MUC1/NM_001018016.2/0;CC=c.187-527C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-527C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-546C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-527C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-527C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-546C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-171C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-171C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-473C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-527C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-704C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-704C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-695C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-546C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-473C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-546C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-527C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-546C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-473C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-473C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:39:0:0:12,39:376,1123:31.27,0.00:31.63,0.00:-0.36,0.00:1.00,0.00:1.00,0.00:0.99,0.00:30,60:203.3,73.4:0,0:0,0:56,100:73,18:8,40:NM_002456.5(MUC1) c.160-473C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161236 rs61811944 G C 27 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.005;Gene=MUC1/NM_001018016.2/0;CC=c.187-529C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-529C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-548C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-529C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-529C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-548C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-173C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-173C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-475C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-529C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.187-706C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.124-706C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.187-697C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-548C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-475C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-548C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-529C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-548C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-475C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-475C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:47:37:0:0:12,34,1:327,984,10:26.98,0.00,-0.12:27.27,0.00,0.02:-0.29,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:30,60,10:215.3,75.4,22.0:0,0,0:0,0,0:60,100,92:72,19,16:8,37,0:NM_002456.5(MUC1) c.160-475C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161265 rs201443032 G C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=MUC1/NM_001018016.2/0;CC=c.187-558C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-558C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-577C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-558C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-558C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-577C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-202C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-202C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-504C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-558C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.186+709C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.123+709C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.186+709C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-577C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-504C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-577C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-558C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-577C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-504C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-504C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,G,T:30:26:0:0:8,21,1:190,549,10:15.41,0.00,-0.04:13.68,0.00,0.04:1.73,0.00,-0.07:0.98,0.00,0.00:1.00,0.00,0.00:0.88,0.00,0.00:30,34,11:210.4,116.4,104.0:0,0,0:0,0,0:92,80,104:48,42,42:5,15,0:NM_002456.5(MUC1) c.160-504C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161269 rs199710334 G C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.003;Gene=MUC1/NM_001018016.2/0;CC=c.187-562C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-562C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-581C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-562C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-562C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-581C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.464-206C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.491-206C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-508C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-562C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.186+705C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.123+705C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.186+705C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-581C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-508C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-581C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-562C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-581C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-508C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-508C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,C,G:27:25:0:0:1,7,19:12,152,468:0.11,11.98,0.00:0.17,12.43,0.00:-0.06,-0.45,0.00:0.00,0.96,0.00:0.00,1.00,0.00:0.00,0.77,0.00:22,30,34:170.0,227.3,125.2:0,0,0:0,0,0:79,99,91:53,51,38:0,6,19:NM_002456.5(MUC1) c.160-508C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161296 . G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;PC=0.002;Gene=MUC1/NM_001018016.2/0;CC=c.187-589C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.160-589C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.160-608C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.160-589C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.187-589C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.160-608C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.463+206C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.490+206C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.187-535C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.187-589C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.186+678C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.123+678C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.186+678C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.187-608C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.160-535C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.160-608C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.187-589C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.187-608C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.187-535C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.160-535C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,C,G:21:19:0:0:1,5,15:21,118,349:0.96,9.31,0.00:1.00,9.55,0.00:-0.04,-0.24,0.00:0.00,0.85,0.00:0.00,0.98,0.00:0.00,0.52,0.00:12,28,30:228.0,201.6,160.3:0,0,0:0,0,0:144,117,121:7,26,18:0,10,11:NM_002456.5(MUC1) c.160-535C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161642 . G C 7 mq,lc VT=SNV;PN=G;NN=T;SST=Single;DP=38;Gene=MUC1/NM_001018016.2/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.159+332C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.159+332C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.159+332C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.159+332C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.434+57C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.461+57C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.123+332C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.159+332C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.159+332C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.186+332C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.159+332C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,C,G:38:36:0:0:1,4,33:10,103,1005:-0.15,6.78,0.00:-0.07,3.67,0.00:-0.09,3.11,0.00:0.00,0.60,0.00:0.00,0.94,0.00:0.00,0.75,0.00:58,9,60:22.0,105.5,57.5:0,0,0:0,0,0:22,12,13:129,64,110:0,7,9:NM_002456.5(MUC1) c.159+332C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161644 rs536576326 G C 9 mq,lc VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=MUC1/NM_001018016.2/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.159+330C>G;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.159+330C>G;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.159+330C>G;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.159+330C>G;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.434+55C>G;VC=Intron;Gene=MUC1/NM_001204286.1/0;CC=c.461+55C>G;VC=Intron;Gene=MUC1/NM_001204287.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.123+330C>G;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.159+330C>G;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.159+330C>G;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.186+330C>G;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.159+330C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,G:41:39:0:0:4,37:128,1237:9.02,0.00:4.59,0.00:4.43,0.00:0.58,0.00:0.93,0.00:0.74,0.00:9,60:105.8,57.1:0,0:0,0:14,15:62,110:7,9:NM_002456.5(MUC1) c.159+330C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155161833 rs147687610 C G 132 lc VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=1;NP=54;Gene=MUC1/NM_001018016.2/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001018017.2/0;CC=c.159+141G>C;VC=Intron;Gene=MUC1/NM_001044390.2/0;CC=c.159+141G>C;VC=Intron;Gene=MUC1/NM_001044391.2/0;CC=c.159+141G>C;VC=Intron;Gene=MUC1/NM_001044392.2/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001044393.2/0;CC=c.159+141G>C;VC=Intron;Gene=MUC1/NM_001204285.1/0;CC=c.300G>C;ProtCh=p.S100=;VC=Silent;Gene=MUC1/NM_001204286.1/0;CC=c.327G>C;ProtCh=p.S109=;VC=Silent;Gene=MUC1/NM_001204287.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001204288.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001204289.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001204290.1/0;CC=c.123+141G>C;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001204292.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001204293.1/0;CC=c.159+141G>C;VC=Intron;Gene=MUC1/NM_001204294.1/0;CC=c.159+141G>C;VC=Intron;Gene=MUC1/NM_001204295.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001204296.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_001204297.1/0;CC=c.186+141G>C;VC=Intron;Gene=MUC1/NM_002456.5/1;CC=c.159+141G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:136:100:0:0:1,86,49:26,2557,1472:0.71,0.00,132.21:-0.14,0.00,76.00:0.85,0.00,56.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:21,60,60:39.0,15.3,45.7:0,0,0:0,0,0:5,65,83:145,80,65:0,32,31:-,NM_002456.5(MUC1) c.159+141G>C:-,0.01:-,NOT_FOUND 1 155162067 rs4072037 C T 98 lc VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.3712,T/0.6288;PC=0.010;Gene=MUC1/NM_001018016.2/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001018017.2/0;CC=c.66G>A;ProtCh=p.T22=;VC=Silent;Gene=MUC1/NM_001044390.2/0;CC=c.66G>A;ProtCh=p.T22=;VC=Silent;Gene=MUC1/NM_001044391.2/0;CC=c.66G>A;ProtCh=p.T22=;VC=Silent;Gene=MUC1/NM_001044392.2/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001044393.2/0;CC=c.66G>A;ProtCh=p.T22=;VC=Silent;Gene=MUC1/NM_001204285.1/0;CC=c.66G>A;ProtCh=p.T22=;VC=Silent;Gene=MUC1/NM_001204286.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204287.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204288.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204289.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204290.1/0;CC=c.59-29G>A;VC=Intron;Gene=MUC1/NM_001204291.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204292.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204293.1/0;CC=c.66G>A;ProtCh=p.T22=;VC=Silent;Gene=MUC1/NM_001204294.1/0;CC=c.66G>A;ProtCh=p.T22=;VC=Silent;Gene=MUC1/NM_001204295.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204296.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_001204297.1/0;CC=c.93G>A;ProtCh=p.T31=;VC=Silent;Gene=MUC1/NM_002456.5/1;CC=c.66G>A;ProtCh=p.T22=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:20:0:0:33,32:948,1022:0.00,97.92:0.00,13.55:0.00,84.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,47.2:0,0:0,0:111,110:40,40:16,22:-,NM_002456.5(MUC1) c.66G>A (p.(=)):-,0.68:-,0.572351 1 155162102 . C . . NT END=155162575;NT GT ./. 1 155162635 . G . . NT END=155165631;NT GT ./. 1 155165691 . C . . NT END=155165777;NT GT ./. 1 155165918 . C . . NT END=155166831;NT GT ./. 1 155167005 . C . . NT END=155167253;NT GT ./. 1 155167451 . C . . NT END=155167670;NT GT ./. 1 155167720 . C . . NT END=155167832;NT GT ./. 1 155168012 . C . . NT END=155168199;NT GT ./. 1 155168394 . C . . NT END=155169594;NT GT ./. 1 155169355 rs423144 G T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5433,T/0.4567;PC=0.065;Gene=THBS3/NM_001252607.1/0;CC=c.1853+240C>A;VC=Intron;Gene=THBS3/NM_001252608.1/0;CC=c.1520+240C>A;VC=Intron;Gene=THBS3/NM_007112.4/1;CC=c.1880+240C>A;VC=Intron;Gene=THBS3/NR_045553.1/0;VC=NonCoding;DM=THBS3/TSP_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:G,T:8:8:0:0:4,4:133,119:0.00,11.40:0.00,11.40:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:0.0,32.5:0,0:0,0:62,21:88,127:34,14:-,NM_007112.4(THBS3) c.1880+240C>A:-,0.49:-,NOT_FOUND 1 155169648 . C . . NT END=155169785;NT GT ./. 1 155169905 . C . . NT END=155170241;NT GT ./. 1 155170402 . C . . NT END=155170687;NT GT ./. 1 155170796 . C . . NT END=155170884;NT GT ./. 1 155170996 . C . . NT END=155171207;NT GT ./. 1 155171361 . C . . NT END=155171747;NT GT ./. 1 155171906 . C . . NT END=155172051;NT GT ./. 1 155172193 . C . . NT END=155172602;NT GT ./. 1 155172379 rs2066981 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.3656,G/0.6344;Gene=THBS3/NM_001252607.1/0;CC=c.931-187C>T;VC=Intron;Gene=THBS3/NM_001252608.1/0;CC=c.598-187C>T;VC=Intron;Gene=THBS3/NM_007112.4/1;CC=c.958-187C>T;VC=Intron;Gene=THBS3/NR_045553.1/0;VC=NonCoding;DM=THBS3/TSP_C;DM=THBS3/EGF_CA;DM=THBS3/TSP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:A,G:24:8:0:0:8,16:192,496:16.35,0.00:7.20,0.00:9.14,0.00:0.99,0.00:0.94,0.00:1.00,0.00:60,60:50.1,28.2:0,0:0,0:76,59:74,74:32,17:NM_007112.4(THBS3) c.958-187C>T,-:0.66,-:NOT_FOUND,- 1 155172752 . C . . NT END=155172876;NT GT ./. 1 155172929 . C . . NT END=155173013;NT GT ./. 1 155173097 . C . . NT END=155173303;NT GT ./. 1 155173331 . C . . NT END=155174645;NT GT ./. 1 155174749 . C . . NT END=155174850;NT GT ./. 1 155175108 . C . . NT END=155175983;NT GT ./. 1 155175390 rs370545 A G 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3652,A/0.6348;Gene=THBS3/NM_001252607.1/0;CC=c.287-283T>C;VC=Intron;Gene=THBS3/NM_001252608.1/0;CC=c.286+601T>C;VC=Intron;Gene=THBS3/NM_007112.4/1;CC=c.287-283T>C;VC=Intron;Gene=THBS3/NR_045553.1/0;VC=NonCoding;DM=THBS3/TSP_3;DM=THBS3/TSP_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G:8:0:0:0:2,6:64,196:0.00,20.51:0.00,0.00:0.00,20.51:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,46.8:0,0:0,0:113,121:37,29:29,25:-,NM_007112.4(THBS3) c.287-283T>C:-,0.66:-,NOT_FOUND 1 155175892 rs914615 A G 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.3652,A/0.6348;Gene=THBS3/NM_001252607.1/0;CC=c.286+99T>C;VC=Intron;Gene=THBS3/NM_001252608.1/0;CC=c.286+99T>C;VC=Intron;Gene=THBS3/NM_007112.4/1;CC=c.286+99T>C;VC=Intron;Gene=THBS3/NR_045553.1/0;VC=NonCoding;DM=THBS3/TSP_3;DM=THBS3/TSP_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:38:0:0:15,23:502,727:0.00,72.58:0.00,69.47:0.00,3.11:0.00,1.00:0.00,1.00:0.00,0.94:60,60:1.7,41.0:0,0:0,0:52,37:99,114:43,24:-,NM_007112.4(THBS3) c.286+99T>C:-,0.66:-,NOT_FOUND 1 155176198 . C . . NT END=155177588;NT GT ./. 1 155177668 . G . . NT END=155178595;NT GT ./. 1 155178782 rs760077 A T 277 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=196;DB;DBA=NA;PAF=T/0.3333,A/0.6667;PC=0.001;Gene=MTX1/NM_002455.4/1;CC=c.187A>T;ProtCh=p.T63S;VC=Missense;Gene=MTX1/NM_198883.3/0;CC=c.187A>T;ProtCh=p.T63S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:196:128:0:0:105,1,90:3034,9,2928:0.00,-0.19,277.39:0.00,-0.11,163.03:0.00,-0.08,114.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.7,131.0,42.5:0,0,0:0,0,0:75,76,82:73,75,68:37,0,32:-,NM_002455.3(MTX1) c.187A>T (p.Thr63Ser):-,0.69:-,0.629415 1 155179124 . G . . NT END=155180136;NT GT ./. 1 155180207 . G . . NT END=155180338;NT GT ./. 1 155180419 . G . . NT END=155181917;NT GT ./. 1 155181843 rs2974935 G T 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.3786,A/.,T/0.6214;Gene=MTX1/NM_002455.4/1;CC=c.679-75G>T;VC=Intron;Gene=MTX1/NM_198883.3/0;CC=c.679-333G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:25:0:0:15,12:479,386:0.00,36.27:0.00,26.31:0.00,9.96:0.00,1.00:0.00,1.00:0.00,0.98:60,60:4.9,46.4:0,0:0,0:14,27:137,123:13,11:-,NM_002455.3(MTX1) c.679-75G>T:-,0.65:-,NOT_FOUND 1 155182011 . G . . NT END=155182175;NT GT ./. 1 155182164 rs2075570 C T 118 nt VT=SNV;PN=C;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.3774,T/0.6226;Gene=MTX1/NM_002455.4/1;CC=c.772-12C>T;VC=Intron;Gene=MTX1/NM_198883.3/0;CC=c.679-12C>T;VC=Intron;DM=MTX1/Tom37_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:52:0:0:41,38:1258,1240:0.00,118.41:0.00,73.86:0.00,44.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,43.1:0,0:0,0:69,51:82,95:33,29:-,NM_002455.3(MTX1) c.772-12C>T:-,0.65:-,0.552284 1 155182359 . G . . NT END=155182484;NT GT ./. 1 155182562 . G . . NT END=155183027;NT GT ./. 1 155183183 . G . . NT END=155183274;NT GT ./. 1 155183490 . T . . NT END=155204785;NT GT ./. 1 155184975 rs140081212 A G 82 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=GBAP1/NR_002188.3/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:28:0:0:27,26:818,853:0.00,81.79:0.00,22.50:0.00,59.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,39.7:0,0:0,0:92,88:53,57:35,22:-,NR_002188.2(GBAP1) n.1162-22T>C:-,0.69:-,NOT_FOUND 1 155186729 rs28445596 T C 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.3762,T/0.6238;PC=0.982;Gene=GBAP1/NR_002188.3/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:41:0:0:28,38:899,1263:83.70,0.00:33.00,0.00:50.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.8,12.2:0,0:0,0:87,69:63,82:38,34:NR_002188.2(GBAP1) n.727A>G,-:0.65,-:NOT_FOUND,- 1 155186742 rs1057941 G A 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.5557,A/0.4443;PC=1.000;Gene=GBAP1/NR_002188.3/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:67:41:0:0:27,39,1:848,1220,11:78.33,0.00,-0.08:29.90,0.00,0.05:48.43,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:73.0,18.3,44.0:0,0,0:0,0,0:99,63,62:51,86,88:40,26,0:NR_002188.2(GBAP1) n.714C>T,-:0.48,-:NOT_FOUND,- 1 155202689 rs10796940 A C 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.5304,C/0.4696 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:21:0:0:13,18:395,625:0.00,61.95:0.00,36.02:0.00,25.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,37.4:0,0:0,0:65,103:86,47:35,32:-,NR_002188.2(GBAP1) n.-5364T>G:-,0.49:-,NOT_FOUND 1 155203060 rs56310840 G A 134 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:39:0:0:42,44:1400,1355:134.19,0.00:52.76,0.00:81.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:45.6,6.7:0,0:0,0:60,68:91,82:42,42:NR_002188.2(GBAP1) n.-5735C>T,-:0.49,-:NOT_FOUND,- 1 155204892 . C . . NT END=155204985;NT GT ./. 1 155205103 . C . . NT END=155205471;NT GT ./. 1 155205331 rs28373017 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.995;Gene=GBA/NM_001171812.1/0;CC=c.1241+141A>G;VC=Intron;Gene=GBA/NM_000157.3/0;CC=c.1388+141A>G;VC=Intron;Gene=GBA/NM_001005741.2/1;CC=c.1388+141A>G;VC=Intron;Gene=GBA/NM_001005742.2/0;CC=c.1388+141A>G;VC=Intron;Gene=GBA/NM_001171811.1/0;CC=c.1127+141A>G;VC=Intron;DM=GBA/Glyco_hydro_30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:16:0:0:9,11:253,357:23.50,0.00:20.55,0.00:2.95,0.00:1.00,0.00:1.00,0.00:0.91,0.00:40,43:46.8,11.1:0,0:0,0:66,26:85,113:15,12:NM_001005741.2(GBA) c.1388+141A>G,-:0.45,-:NOT_FOUND,- 1 155205636 . C . . NT END=155206035;NT GT ./. 1 155205669 rs28559737 G T 184 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=GBA/NM_001171812.1/0;CC=c.1078-34C>A;VC=Intron;Gene=GBA/NM_000157.3/0;CC=c.1225-34C>A;VC=Intron;Gene=GBA/NM_001005741.2/1;CC=c.1225-34C>A;VC=Intron;Gene=GBA/NM_001005742.2/0;CC=c.1225-34C>A;VC=Intron;Gene=GBA/NM_001171811.1/0;CC=c.964-34C>A;VC=Intron;DM=GBA/Glyco_hydro_30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A,T:51:19:0:0:1,50:23,1603:1.11,183.62:1.11,50.00:0.00,133.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:116.0,36.8:0,0:0,0:134,104:17,45:0,32:NM_001005741.2(GBA) c.1225-34C>A,NM_001005741.2(GBA) c.1225-34C>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 155206261 . C . . NT END=155207131;NT GT ./. 1 155206341 rs9628662 T G 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5329,G/0.4671;Gene=GBA/NM_001171812.1/0;CC=c.853-81A>C;VC=Intron;Gene=GBA/NM_000157.3/0;CC=c.1000-81A>C;VC=Intron;Gene=GBA/NM_001005741.2/1;CC=c.1000-81A>C;VC=Intron;Gene=GBA/NM_001005742.2/0;CC=c.1000-81A>C;VC=Intron;Gene=GBA/NM_001171811.1/0;CC=c.739-81A>C;VC=Intron;DM=GBA/Glyco_hydro_30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:3:0:0:12,9:365,253:35.98,0.00:2.97,0.00:33.01,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:39.3,25.9:0,0:0,0:81,117:68,34:26,13:NM_001005741.2(GBA) c.1000-81A>C,-:0.49,-:NOT_FOUND,- 1 155207370 . C . . NT END=155207924;NT GT ./. 1 155207549 rs762488 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5329,C/0.4671;Gene=GBA/NM_001171812.1/0;CC=c.615-180A>G;VC=Intron;Gene=GBA/NM_000157.3/0;CC=c.762-180A>G;VC=Intron;Gene=GBA/NM_001005741.2/1;CC=c.762-180A>G;VC=Intron;Gene=GBA/NM_001005742.2/0;CC=c.762-180A>G;VC=Intron;Gene=GBA/NM_001171811.1/0;CC=c.501-180A>G;VC=Intron;DM=GBA/Glyco_hydro_30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:13:1:0:0:6,7:140,202:12.87,0.00:-0.27,0.00:13.14,0.00:0.97,0.00:0.64,0.00:1.00,0.00:60,60:36.3,25.3:0,0:0,0:121,97:29,54:17,31:NM_001005741.2(GBA) c.762-180A>G,-:0.49,-:NOT_FOUND,- 1 155208098 . C . . NT END=155208307;NT GT ./. 1 155208183 rs114099990 T C 29 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=53;Gene=GBA/NM_001171812.1/0;CC=c.442-86A>G;VC=Intron;Gene=GBA/NM_000157.3/0;CC=c.589-86A>G;VC=Intron;Gene=GBA/NM_001005741.2/1;CC=c.589-86A>G;VC=Intron;Gene=GBA/NM_001005742.2/0;CC=c.589-86A>G;VC=Intron;Gene=GBA/NM_001171811.1/0;CC=c.328-86A>G;VC=Intron;DM=GBA/Glyco_hydro_30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:7:0:0:11,21:331,671:29.39,0.00:-1.00,0.00:30.39,0.00:1.00,0.00:0.93,0.00:1.00,0.00:40,43:43.9,20.1:0,0:0,0:113,89:38,62:33,37:NM_001005741.2(GBA) c.589-86A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 155208442 . C . . NT END=155209406;NT GT ./. 1 155208647 rs7416991 T C,G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;DM=GBA/Glyco_hydro_30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:61:C,G:6:1:0:0:2,4:64,124:6.40,13.60:0.00,3.50:6.40,10.10:0.00,0.93:0.00,0.78:0.00,0.99:60,60:32.0,36.0:0,0:0,0:105,93:45,56:11,33:NM_001005741.2(GBA) c.455-206A>G,NM_001005741.2(GBA) c.455-206A>C:0.91,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 155209360 rs2075569 C T 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.51,T/0.49;Gene=GBA/NM_001171812.1/0;CC=c.307+317G>A;VC=Intron;Gene=GBA/NM_000157.3/0;CC=c.454+47G>A;VC=Intron;Gene=GBA/NM_001005741.2/1;CC=c.454+47G>A;VC=Intron;Gene=GBA/NM_001005742.2/0;CC=c.454+47G>A;VC=Intron;Gene=GBA/NM_001171811.1/0;CC=c.193+47G>A;VC=Intron;DM=GBA/Glyco_hydro_30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:40:37:0:0:16,1,23:527,19,744:0.00,0.66,73.86:0.00,0.69,47.55:0.00,-0.03,26.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.7,182.0,45.9:0,0,0:0,0,0:44,42,34:96,97,112:31,0,15:-,NM_001005741.2(GBA) c.454+47G>A:-,0.51:-,0.402122 1 155209554 . C . . NT END=155209676;NT GT ./. 1 155209869 . C . . NT END=155210420;NT GT ./. 1 155210509 . C . . NT END=155210876;NT GT ./. 1 155210904 . C . . NT END=155217572;NT GT ./. 1 155217436 rs76718527 G A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5331,A/0.4669;NP=21;PC=1.000;Gene=FAM189B/NM_001267608.1/0;CC=c.*137C>T;VC=3UTR;Gene=FAM189B/NM_006589.2/1;CC=c.*137C>T;VC=3UTR;Gene=FAM189B/NM_198264.1/0;CC=c.*137C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:26:0:0:9,17:289,552:25.91,0.00:25.91,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:98.3,19.4:0,0:0,0:74,38:77,113:12,18:NM_006589.2(FAM189B) c.*137C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 155217437 rs116352080 G T 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5333,T/0.4667;PC=1.000;Gene=FAM189B/NM_001267608.1/0;CC=c.*136C>A;VC=3UTR;Gene=FAM189B/NM_006589.2/1;CC=c.*136C>A;VC=3UTR;Gene=FAM189B/NM_198264.1/0;CC=c.*136C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:26:26:0:0:17,9:520,250:0.00,21.99:0.00,21.99:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:19.4,98.3:0,0:0,0:39,75:112,76:18,12:-,NM_006589.2(FAM189B) c.*136C>A:-,0.45:-,NOT_FOUND 1 155217438 rs199735676 A T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5331,T/0.4669;DB;DBA=NA;PAF=NA;NP=23;PC=1.000;Gene=FAM189B/NM_001267608.1/0;CC=c.*135T>A;VC=3UTR;Gene=FAM189B/NM_006589.2/1;CC=c.*135T>A;VC=3UTR;Gene=FAM189B/NM_198264.1/0;CC=c.*135T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:28:28:0:0:18,10:559,290:0.00,25.82:0.00,25.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:18.3,91.7:0,0:0,0:39,72:111,77:21,19:-,NM_006589.2(FAM189B) c.*135T>A:-,NOT_FOUND:-,NOT_FOUND 1 155217747 . C . . NT END=155217840;NT GT ./. 1 155218095 . C . . NT END=155218195;NT GT ./. 1 155218168 rs2075568 T C 128 nt VT=SNV;PN=A;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.5329,C/0.4671;Gene=FAM189B/NM_001267608.1/0;CC=c.1525+28A>G;VC=Intron;Gene=FAM189B/NM_006589.2/1;CC=c.1579+28A>G;VC=Intron;Gene=FAM189B/NM_198264.1/0;CC=c.1291+28A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:90:56:0:0:43,47:1342,1523:127.58,0.00:68.31,0.00:59.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,4.9:0,0:0,0:97,88:54,61:28,43:NM_006589.2(FAM189B) c.1579+28A>G,-:0.48,-:0.366369,- 1 155218265 . C . . NT END=155220066;NT GT ./. 1 155218365 rs734073 T C 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6292,C/0.3708;Gene=FAM189B/NM_001267608.1/0;CC=c.1457-101A>G;VC=Intron;Gene=FAM189B/NM_006589.2/1;CC=c.1511-101A>G;VC=Intron;Gene=FAM189B/NM_198264.1/0;CC=c.1223-101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:1:0:0:9,9:285,278:27.38,0.00:-0.15,0.00:27.53,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:42.7,0.7:0,0:0,0:124,79:26,72:21,26:NM_006589.2(FAM189B) c.1511-101A>G,-:0.41,-:NOT_FOUND,- 1 155218446 rs734074 A G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5268,G/0.4732;PC=0.001;Gene=FAM189B/NM_001267608.1/0;CC=c.1457-182T>C;VC=Intron;Gene=FAM189B/NM_006589.2/1;CC=c.1511-182T>C;VC=Intron;Gene=FAM189B/NM_198264.1/0;CC=c.1223-182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:9:0:0:0:5,4:140,128:0.00,12.04:0.00,0.00:0.00,12.04:0.00,0.85:0.00,0.00:0.00,0.85:60,60:6.4,38.8:0,0:0,0:75,73:76,77:32,8:-,NM_006589.2(FAM189B) c.1511-182T>C:-,0.49:-,NOT_FOUND 1 155220613 . C . . NT END=155220885;NT GT ./. 1 155220956 . C . . NT END=155221292;NT GT ./. 1 155221393 . C . . NT END=155221523;NT GT ./. 1 155221700 . C . . NT END=155223415;NT GT ./. 1 155221837 rs2072647 C A 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5349,A/0.4651;Gene=FAM189B/NM_001267608.1/0;CC=c.565-138G>T;VC=Intron;Gene=FAM189B/NM_006589.2/1;CC=c.622-141G>T;VC=Intron;Gene=FAM189B/NM_198264.1/0;CC=c.334-141G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:0:0:0:8,8:256,240:24.62,0.00:0.00,0.00:24.62,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.1,23.2:0,0:0,0:91,86:58,63:19,41:NM_006589.2(FAM189B) c.622-141G>T,-:0.48,-:NOT_FOUND,- 1 155223524 . C . . NT END=155223649;NT GT ./. 1 155223770 . C . . NT END=155223874;NT GT ./. 1 155223986 . C . . NT END=155224190;NT GT ./. 1 155224091 rs2075566 C A 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.5319,A/0.4681;PC=0.001;Gene=FAM189B/NM_001267608.1/0;CC=c.226-106G>T;VC=Intron;Gene=FAM189B/NM_006589.2/1;CC=c.282+100G>T;VC=Intron;Gene=FAM189B/NM_198264.1/0;CC=c.225+353G>T;VC=Intron;DM=FAM189B/CD20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:33:20:0:0:18,14,1:509,458,7:49.92,0.00,-0.06:19.01,0.00,-0.15:30.91,0.00,0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.2,5.4,87.0:0,0,0:0,0,0:95,77,47:56,73,92:38,28,0:NM_006589.2(FAM189B) c.282+100G>T,-:0.48,-:NOT_FOUND,- 1 155224248 . C . . NT END=155224443;NT GT ./. 1 155224301 rs2242577 C A 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.5315,A/0.4685;PC=0.347;Gene=FAM189B/NM_001267608.1/0;CC=c.225+143G>T;VC=Intron;Gene=FAM189B/NM_006589.2/1;CC=c.226-54G>T;VC=Intron;Gene=FAM189B/NM_198264.1/0;CC=c.225+143G>T;VC=Intron;DM=FAM189B/CD20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:52:31:0:0:25,27:764,802:72.73,0.00:26.29,0.00:46.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.0,20.4:0,0:0,0:101,106:46,41:22,27:NM_006589.2(FAM189B) c.226-54G>T,-:0.48,-:0.358958,- 1 155224669 . G . . NT END=155226063;NT GT ./. 1 155226211 . C . . NT END=155226464;NT GT ./. 1 155226583 . C . . NT END=155227075;NT GT ./. 1 155227178 . C . . NT END=155227288;NT GT ./. 1 155227449 . C . . NT END=155228616;NT GT ./. 1 155227642 rs34278239 AT A 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AT/0.5469,A/0.4531;NP=19;PC=0.733;Gene=SCAMP3/NM_005698.3/1;CC=c.518-195delA;VC=Intron;Gene=SCAMP3/NM_052837.2/0;CC=c.440-195delA;VC=Intron;DM=SCAMP3/SCAMP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:AT,A:6:0:0:3:3,3:99,93:0.00,8.92:0.00,0.00:0.00,8.92:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,11.7:0,0:0,0:144,75:7,75:1,19:-,NM_005698.3(SCAMP3) c.518-195delA:-,NOT_FOUND:-,NOT_FOUND 1 155227802 rs61012301 AT A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AT/0.526,A/0.474;DB;DBA=NA;PAF=AT/0.526,A/0.474;NP=167;PC=0.060;Gene=SCAMP3/NM_005698.3/1;CC=c.518-355delA;VC=Intron;Gene=SCAMP3/NM_052837.2/0;CC=c.440-355delA;VC=Intron;DM=SCAMP3/SCAMP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AT,A:4:0:0:2:2,2:66,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,10.5:0,0:0,0:136,121:13,29:4,8:-,NM_005698.3(SCAMP3) c.518-355delA:-,NOT_FOUND:-,NOT_FOUND 1 155228746 . C . . NT END=155230120;NT GT ./. 1 155228837 rs34682738 CT C 12 idl,rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=SCAMP3/NM_005698.3/1;CC=c.389-93delA;VC=Intron;Gene=SCAMP3/NM_052837.2/0;CC=c.311-93delA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,CT,T,I,C:35:11:1:9:1,25,3,1,5:9,715,74,33,239:-0.10,0.00,4.70,1.91,11.66:-0.09,0.00,-0.27,-0.09,1.04:-0.02,0.00,4.96,2.00,10.62:0.00,0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.00,0.72:0.00,0.00,0.00,0.00,0.96:60,60,60,60,60:27.0,19.9,120.3,0.0,31.8:0,0,1,0,3:0,0,0,0,0:35,130,94,107,87:103,18,47,44,63:0,17,3,0,15:-,NM_005698.3(SCAMP3) c.389-93delA:-,NOT_FOUND:-,NOT_FOUND 1 155229915 rs11264348 G T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5262,T/0.4738;Gene=SCAMP3/NM_005698.3/1;CC=c.388+206C>A;VC=Intron;Gene=SCAMP3/NM_052837.2/0;CC=c.310+206C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:G,T:11:11:0:0:4,7:134,200:0.00,20.15:0.00,20.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.0,47.6:0,0:0,0:66,45:84,105:24,7:-,NM_005698.3(SCAMP3) c.388+206C>A:-,0.49:-,NOT_FOUND 1 155230131 rs1142287 C T 188 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.5481,T/0.4519;PC=0.013;Gene=SCAMP3/NM_005698.3/1;CC=c.378G>A;ProtCh=p.G126=;VC=Silent;Gene=SCAMP3/NM_052837.2/0;CC=c.300G>A;ProtCh=p.G100=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:118:103:0:0:58,1,59:1846,6,1950:0.00,-0.18,187.84:0.00,-0.11,136.29:0.00,-0.06,51.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.1,23.0,41.4:0,0,0:0,0,0:58,117,66:90,34,85:32,0,38:-,NM_005698.3(SCAMP3) c.378G>A (p.(=)):-,0.47:-,0.354606 1 155230242 . C . . NT END=155230327;NT GT ./. 1 155230451 . C . . NT END=155231447;NT GT ./. 1 155230705 rs571920364 GT G 8 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GT/0.5701,G/0.4299;NP=36;Gene=SCAMP3/NM_005698.3/1;CC=c.145-256delA;VC=Intron;Gene=SCAMP3/NM_052837.2/0;CC=c.67-256delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:GT,G:6:0:0:3:3,3:100,82:0.00,7.82:0.00,0.00:0.00,7.82:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,5.7:0,0:0,0:145,43:6,108:5,18:-,NM_005698.3(SCAMP3) c.145-256delA:-,NOT_FOUND:-,NOT_FOUND 1 155231526 . C . . NT END=155231876;NT GT ./. 1 155231545 rs2242576 T G 109 nt VT=SNV;PN=G;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.5134,G/0.4866;PC=0.658;Gene=SCAMP3/NM_005698.3/1;CC=c.67-20A>C;VC=Intron;Gene=SCAMP3/NM_052837.2/0;CC=c.66+332A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:41:0:0:35,36:1138,1053:109.12,0.00:39.43,0.00:69.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,22.6:0,0:0,0:82,78:62,61:24,29:NM_005698.3(SCAMP3) c.67-20A>C,-:0.51,-:0.390051,- 1 155231943 . G . . NT END=155233008;NT GT ./. 1 155232074 rs1046188 C T 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5485,T/0.4515;Gene=SCAMP3/NM_005698.3/1;CC=c.-132G>A;VC=5UTR;Gene=SCAMP3/NM_052837.2/0;CC=c.-132G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:30:2:0:0:17,1,12:520,8,350:0.00,-0.07,32.16:0.00,0.00,3.48:0.00,-0.07,28.68:0.00,0.00,1.00:0.00,0.00,0.70:0.00,0.00,1.00:60,60,60:5.3,8.0,44.4:0,0,0:0,0,0:107,21,121:44,115,29:30,0,20:-,NM_005698.3(SCAMP3) c.-132G>A:-,0.47:-,NOT_FOUND 1 155233192 . C . . NT END=155233363;NT GT ./. 1 155233500 . C . . NT END=155233740;NT GT ./. 1 155233832 . C . . NT END=155234011;NT GT ./. 1 155234092 . C . . NT END=155234258;NT GT ./. 1 155234342 . C . . NT END=155234435;NT GT ./. 1 155234566 . C . . NT END=155235650;NT GT ./. 1 155235746 . C . . NT END=155236519;NT GT ./. 1 155235956 rs376720729 T TA 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6312,TA/0.3688;DB;DBA=NA;PAF=T/0.6312,TA/0.3688;DB;DBA=NA;PAF=T/0.6312,TA/0.3688;NP=195;Gene=CLK2/NM_001294338.1/0;CC=c.839-212dupT;VC=Intron;Gene=CLK2/NM_001294339.1/0;CC=c.155-212dupT;VC=Intron;Gene=CLK2/NM_003993.3/1;CC=c.836-212dupT;VC=Intron;DM=CLK2/Pkinase;DM=CLK2/Pkinase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:T,TA:6:0:3:0:3,3:87,89:0.00,8.52:0.00,0.00:0.00,8.52:0.00,0.73:0.00,0.00:0.00,0.73:60,60:6.7,7.0:0,0:0,0:120,86:31,63:15,7:-,NM_003993.2(CLK2) c.836-212_836-211insT:-,NOT_FOUND:-,NOT_FOUND 1 155236687 . C . . NT END=155237800;NT GT ./. 1 155237639 rs34395206 C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CLK2/NM_001294338.1/0;CC=c.671+162G>A;VC=Intron;Gene=CLK2/NM_001294339.1/0;CC=c.-14+162G>A;VC=Intron;Gene=CLK2/NM_003993.3/1;CC=c.668+162G>A;VC=Intron;DM=CLK2/Pkinase;DM=CLK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:5:5:0:0:2,3:64,72:0.00,7.15:0.00,7.15:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,30.7:0,0:0,0:56,90:94,59:53,5:-,NM_003993.2(CLK2) c.668+162G>A:-,0.06:-,NOT_FOUND 1 155237918 . C . . NT END=155238083;NT GT ./. 1 155238151 . C . . NT END=155238498;NT GT ./. 1 155238587 . C . . NT END=155239278;NT GT ./. 1 155239508 . C . . NT END=155240598;NT GT ./. 1 155239624 rs2361543 G A 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.5473,A/0.4527;Gene=CLK2/NM_001294338.1/0;CC=c.171-117C>T;VC=Intron;Gene=CLK2/NM_001294339.1/0;CC=c.-426-117C>T;VC=Intron;Gene=CLK2/NM_003993.3/1;CC=c.171-117C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:0:0:0:17,11:549,354:54.87,0.00:0.00,0.00:54.87,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.3,21.5:0,0:0,0:87,105:63,46:42,22:NM_003993.2(CLK2) c.171-117C>T,-:0.47,-:NOT_FOUND,- 1 155240371 rs34467038 A AC 12 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.513,AC/0.487;NP=260;Gene=CLK2/NM_001294338.1/0;CC=c.170+227_170+228insG;VC=Intron;Gene=CLK2/NM_001294339.1/0;CC=c.-427+227_-427+228insG;VC=Intron;Gene=CLK2/NM_003993.3/1;CC=c.170+227_170+228insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,AC:9:9:4:0:5,4:125,124:0.00,11.64:0.00,11.64:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,70:13.6,2.2:0,0:0,0:56,16:90,134:36,8:-,NM_003993.2(CLK2) c.170+227_170+228insG:-,0.51:-,NOT_FOUND 1 155240769 . C . . NT END=155247381;NT GT ./. 1 155247660 . G . . NT END=155252201;NT GT ./. 1 155247707 rs12749306 G T 131 nt VT=SNV;PN=C;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.6164,T/0.3836;Gene=HCN3/NR_073074.1/0;VC=NonCoding;Gene=HCN3/NM_020897.2/1;CC=c.278+48G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:87:29:0:0:42,45:1337,1359:0.00,131.18:0.00,25.72:0.00,105.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,41.9:0,0:0,0:89,106:62,40:33,26:-,NM_020897.2(HCN3) c.278+48G>T:-,0.43:-,0.272569 1 155252632 . g . . NT END=155253764;NT GT ./. 1 155253583 rs7520184 G A 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5663,A/0.4337;Gene=HCN3/NR_073074.1/0;VC=NonCoding;Gene=HCN3/NM_020897.2/1;CC=c.709-182G>A;VC=Intron;DM=HCN3/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:14:14:0:0:10,4:303,138:31.37,0.00:31.37,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.9,10.2:0,0:0,0:20,41:130,107:8,18:NM_020897.2(HCN3) c.709-182G>A,-:0.46,-:NOT_FOUND,- 1 155253927 . G . . NT END=155254329;NT GT ./. 1 155254549 . G . . NT END=155254955;NT GT ./. 1 155255103 . G . . NT END=155255514;NT GT ./. 1 155255756 . G . . NT END=155256963;NT GT ./. 1 155255837 rs11264352 T C 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.5575,C/0.4425;Gene=HCN3/NR_073074.1/0;VC=NonCoding;Gene=HCN3/NM_020897.2/1;CC=c.1477+82T>C;VC=Intron;DM=HCN3/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:28:0:0:38,32:1148,962:111.84,0.00:35.60,0.00:76.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.3,13.9:0,0:0,0:97,105:53,46:23,31:NM_020897.2(HCN3) c.1477+82T>C,-:0.46,-:NOT_FOUND,- 1 155255906 rs11264353 G C 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.5607,C/0.4393;PC=0.070;Gene=HCN3/NR_073074.1/0;VC=NonCoding;Gene=HCN3/NM_020897.2/1;CC=c.1477+151G>C;VC=Intron;DM=HCN3/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:1:0:0:17,11:510,312:50.99,0.00:1.73,0.00:49.26,0.00:1.00,0.00:0.74,0.00:1.00,0.00:60,60:64.1,24.5:0,0:0,0:104,124:47,27:30,11:NM_020897.2(HCN3) c.1477+151G>C,-:0.46,-:NOT_FOUND,- 1 155257129 . G . . NT END=155257571;NT GT ./. 1 155257492 rs11264355 C G 56 nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.5609,G/0.4391;Gene=HCN3/NR_073074.1/0;VC=NonCoding;Gene=HCN3/NM_020897.2/1;CC=c.1643-80C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:61:55:0:0:2,36,21,2:22,1015,626,20:0.13,0.00,56.30,0.02:0.20,0.00,40.46,0.08:-0.07,0.00,15.85,-0.07:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:60,60,60,60:68.0,25.1,49.4,149.5:0,0,0,0:0,0,0,0:102,36,59,120:40,110,82,23:9,19,28,7:-,NM_020897.2(HCN3) c.1643-80C>G:-,0.46:-,NOT_FOUND 1 155258255 . A . . NT END=155260361;NT GT ./. 1 155260350 rs1052177 A G 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5613,C/.,G/0.4387;Gene=PKLR/NM_181871.3/0;CC=c.*13T>C;VC=3UTR;Gene=PKLR/NM_000298.5/1;CC=c.*13T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:25:0:0:15,13:485,423:0.00,40.12:0.00,29.40:0.00,10.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,70.2:0,0:0,0:39,44:106,105:20,18:-,NM_000298.5(PKLR) c.*13T>C:-,0.46:-,0.319314 1 155260383 rs1052176 G T 62 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5615,A/.,T/0.4385;PC=1.000;Gene=PKLR/NM_181871.3/0;CC=c.1612C>A;ProtCh=p.R538=;VC=Silent;Gene=PKLR/NM_000298.5/1;CC=c.1705C>A;ProtCh=p.R569=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:37:0:0:22,19:721,648:0.00,61.58:0.00,46.12:0.00,15.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,64.7:0,0:0,0:29,60:99,91:21,33:-,NM_000298.5(PKLR) c.1705C>A (p.(=)):-,0.47:-,0.341227 1 155260470 . C . . NT END=155261545;NT GT ./. 1 155261729 . C . . NT END=155262966;NT GT ./. 1 155263135 . C . . NT END=155263227;NT GT ./. 1 155263382 . C . . NT END=155264024;NT GT ./. 1 155264177 . C . . NT END=155264271;NT GT ./. 1 155264544 . C . . NT END=155264905;NT GT ./. 1 155265094 . C . . NT END=155265226;NT GT ./. 1 155265177 rs2071053 A G 216 nt VT=SNV;PN=C;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=A/0.521,C/.,G/0.479,T/.;Gene=PKLR/NM_181871.3/0;CC=c.414+51T>C;VC=Intron;Gene=PKLR/NM_000298.5/1;CC=c.507+51T>C;VC=Intron;DM=PKLR/PK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:126:83:0:0:53,73:1742,2181:0.00,215.50:0.00,108.31:0.00,107.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,42.3:0,0:0,0:75,59:76,86:38,32:-,NM_000298.5(PKLR) c.507+51T>C:-,0.5:-,0.36505 1 155265360 . C . . NT END=155265454;NT GT ./. 1 155265548 . C . . NT END=155269887;NT GT ./. 1 155269776 rs3020781 A G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5252,G/0.4748;PC=0.067;Gene=PKLR/NM_181871.3/0;CC=c.190+113T>C;VC=Intron;Gene=PKLR/NM_000298.5/1;CC=c.283+113T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:18:0:0:10,9:317,271:0.00,25.65:0.00,26.07:0.00,-0.42:0.00,1.00:0.00,1.00:0.00,0.77:60,60:5.7,30.1:0,0:0,0:52,44:91,107:26,25:-,NM_000298.5(PKLR) c.283+113T>C:-,0.49:-,NOT_FOUND 1 155270072 . C . . NT END=155270671;NT GT ./. 1 155270793 . G . . NT END=155271085;NT GT ./. 1 155271226 . A . . NT END=155278343;NT GT ./. 1 155278493 . T . . NT END=155279580;NT GT ./. 1 155279482 rs2297480 T G 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.6306,G/0.3694;Gene=FDPS/NM_001135822.1/0;CC=c.-1-373T>G;VC=Intron;Gene=FDPS/NM_001242824.1/0;CC=c.-22-352T>G;VC=Intron;Gene=FDPS/NM_001242825.1/0;CC=c.-175+726T>G;VC=Intron;Gene=FDPS/NM_002004.3/1;CC=c.-1-98T>G;VC=Intron;Gene=FDPS/NM_001135821.1/0;CC=c.-1-98T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:45:44:0:0:22,23:627,807:59.51,0.00:54.16,0.00:5.35,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:49.5,6.4:0,0:0,0:49,61:102,90:28,26:NM_002004.3(FDPS) c.-1-98T>G,-:0.42,-:NOT_FOUND,- 1 155279757 . G . . NT END=155279833;NT GT ./. 1 155279997 . G . . NT END=155282045;NT GT ./. 1 155280104 rs535494646 C CT 20 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7141,CT/0.2859;DB;DBA=NA;PAF=C/0.7141,CT/0.2859;DB;DBA=NA;PAF=C/0.7141,CT/0.2859;NP=3;PC=0.097;Gene=FDPS/NM_001135822.1/0;CC=c.141+123_141+124insT;VC=Intron;Gene=FDPS/NM_001242824.1/0;CC=c.141+123_141+124insT;VC=Intron;Gene=FDPS/NM_001242825.1/0;CC=c.-175+1363_-175+1364insT;VC=Intron;Gene=FDPS/NM_002004.3/1;CC=c.339+123_339+124insT;VC=Intron;Gene=FDPS/NM_001135821.1/0;CC=c.339+123_339+124insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,CT,D:27:1:7:8:14,7,6:407,227,226:0.00,20.04,14.16:0.00,-0.12,-0.10:0.00,20.16,14.26:0.00,0.96,0.00:0.00,0.49,0.00:0.00,1.00,0.00:60,60,60:29.1,20.6,26.8:0,0,2:0,0,0:129,69,67:20,82,81:18,39,49:-,NM_002004.3(FDPS) c.339+108_339+109insT:-,NOT_FOUND:-,NOT_FOUND 1 155280164 rs11264358 T C 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6306,C/0.3694;PC=0.002;Gene=FDPS/NM_001135822.1/0;CC=c.141+168T>C;VC=Intron;Gene=FDPS/NM_001242824.1/0;CC=c.141+168T>C;VC=Intron;Gene=FDPS/NM_001242825.1/0;CC=c.-175+1408T>C;VC=Intron;Gene=FDPS/NM_002004.3/1;CC=c.339+168T>C;VC=Intron;Gene=FDPS/NM_001135821.1/0;CC=c.339+168T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:18:0:0:0:1,9,8:13,272,240:0.42,26.39,0.00:0.00,0.00,0.00:0.42,26.39,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:115.0,55.1,11.4:0,0,0:0,0,0:26,128,66:111,23,84:0,7,29:NM_002004.3(FDPS) c.339+168T>C,-:0.42,-:NOT_FOUND,- 1 155282187 . G . . NT END=155287731;NT GT ./. 1 155287588 rs1409140 C T 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.05092,T/0.9491;PC=0.011;Gene=FDPS/NM_001135822.1/0;CC=c.283-144C>T;VC=Intron;Gene=FDPS/NM_001242824.1/0;CC=c.283-144C>T;VC=Intron;Gene=FDPS/NM_001242825.1/0;CC=c.-33-144C>T;VC=Intron;Gene=FDPS/NM_002004.3/1;CC=c.481-144C>T;VC=Intron;Gene=FDPS/NM_001135821.1/0;CC=c.481-144C>T;VC=Intron;DM=FDPS/polyprenyl_synt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:430:49.63:49.63:0.00:1.00:1.00:0.00:60:40.0:0:0:76:73:46:NM_002004.3(FDPS) c.481-144C>T,NM_002004.3(FDPS) c.481-144C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 155287813 . G . . NT END=155287959;NT GT ./. 1 155288083 . G . . NT END=155288455;NT GT ./. 1 155288545 . G . . NT END=155288646;NT GT ./. 1 155288720 . G . . NT END=155289401;NT GT ./. 1 155289480 . G . . NT END=155289584;NT GT ./. 1 155289545 rs11264361 T G 158 nt VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.6478,A/.,G/0.3522;PC=0.001;Gene=FDPS/NM_001135822.1/0;CC=c.727-40T>G;VC=Intron;Gene=FDPS/NM_001242824.1/0;CC=c.727-40T>G;VC=Intron;Gene=FDPS/NM_001242825.1/0;CC=c.412-40T>G;VC=Intron;Gene=FDPS/NM_002004.3/1;CC=c.925-40T>G;VC=Intron;Gene=FDPS/NM_001135821.1/0;CC=c.925-40T>G;VC=Intron;DM=FDPS/polyprenyl_synt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:113:70:0:0:53,60:1668,1881:158.12,0.00:79.34,0.00:78.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,8.6:0,0:0,0:46,60:102,90:27,41:NM_002004.3(FDPS) c.925-40T>G,-:0.4,-:0.250038,- 1 155289720 . G . . NT END=155290199;NT GT ./. 1 155290401 . C . . NT END=155290568;NT GT ./. 1 155291253 rs72704152 C T 143 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.9888,T/0.01118;NP=42;PC=0.988;Gene=RUSC1-AS1/NM_001039517.1/1;CC=c.27G>A;ProtCh=p.A9=;VC=Silent;Gene=RUSC1/NM_001105203.1/0;CC=c.-86-226C>T;VC=Intron;Gene=RUSC1/NM_001105204.1/1;CC=c.-86-226C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:59:0:0:72,46:2068,1556:0.00,143.45:0.00,50.44:0.00,93.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.1,37.7:0,0:0,0:65,92:75,57:31,26:-,NM_001039517.1(RUSC1-AS1) c.27G>A (p.(=)):-,0.01:-,0.006756 1 155291280 . T . . NT END=155291564;NT GT ./. 1 155292770 . A C 19 sb VT=SNV;PN=C;NN=C;SST=Single;DP=82;NP=4;PC=0.003;Gene=RUSC1-AS1/NM_001039517.1/1;CC=c.-208+1099T>G;VC=Intron;Gene=RUSC1/NM_001105203.1/0;CC=c.1206A>C;ProtCh=p.P402=;VC=Silent;Gene=RUSC1/NM_001105204.1/1;CC=c.1206A>C;ProtCh=p.P402=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C:82:39:0:0:66,16:1567,286:0.00,18.82:0.00,17.74:0.00,1.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.3,91.3:0,0:0,0:78,67:63,45:35,45:-,NM_001105203.1(RUSC1) c.1206A>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 155292922 . G . . NT END=155293727;NT GT ./. 1 155294274 rs914616 A G 567 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.05172,G/0.9483;Gene=RUSC1/NM_001105203.1/0;CC=c.1358-362A>G;VC=Intron;Gene=RUSC1/NM_001105204.1/1;CC=c.1358-362A>G;VC=Intron;Gene=RUSC1/NM_001105205.1/0;CC=c.66A>G;ProtCh=p.L22=;VC=Silent;Gene=RUSC1/NM_001278227.1/0;CC=c.-155A>G;VC=5UTR;Gene=RUSC1/NM_001278228.1/0;CC=c.-310A>G;VC=5UTR;Gene=RUSC1/NM_001278229.1/0;CC=c.-155A>G;VC=5UTR;Gene=RUSC1/NM_014328.4/0;CC=c.-155A>G;VC=5UTR;Gene=RUSC1/NM_001278230.1/0;CC=c.-412A>G;VC=5UTR;Gene=RUSC1/NR_103478.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:153:110:0:0:152,1:4957,12:567.41,0.12:320.67,0.12:246.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,191.0:0,0:0,0:62,2:84,149:39,0:NM_001105203.1(RUSC1) c.1358-362A>G,NM_001105203.1(RUSC1) c.1358-362A>G:0.96,0.96:0.956815,0.956815 1 155294735 . G . . NT END=155294892;NT GT ./. 1 155294772 rs4971075 A G 460 nt VT=SNV;PN=T;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=A/0.08466,G/0.9153;Gene=RUSC1/NM_001105203.1/0;CC=c.1456+38A>G;VC=Intron;Gene=RUSC1/NM_001105204.1/1;CC=c.1456+38A>G;VC=Intron;Gene=RUSC1/NM_001105205.1/0;CC=c.226+38A>G;VC=Intron;Gene=RUSC1/NM_001278227.1/0;CC=c.49+38A>G;VC=Intron;Gene=RUSC1/NM_001278228.1/0;CC=c.-107+38A>G;VC=Intron;Gene=RUSC1/NM_001278229.1/0;CC=c.49+38A>G;VC=Intron;Gene=RUSC1/NM_014328.4/0;CC=c.49+38A>G;VC=Intron;Gene=RUSC1/NM_001278230.1/0;CC=c.49+38A>G;VC=Intron;Gene=RUSC1/NR_103478.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:122:66:0:0:121,1:4024,14:459.53,0.20:189.47,0.20:270.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,102.0:0,0:0,0:92,23:58,128:27,0:NM_001105203.1(RUSC1) c.1456+38A>G,NM_001105203.1(RUSC1) c.1456+38A>G:0.93,0.93:0.931032,0.931032 1 155295282 . G . . NT END=155295357;NT GT ./. 1 155295464 . G . . NT END=155295654;NT GT ./. 1 155295702 . G . . NT END=155296370;NT GT ./. 1 155296924 . G . . NT END=155297940;NT GT ./. 1 155298067 . G . . NT END=155300193;NT GT ./. 1 155298229 . AT A 8 rn VT=DEL;SST=Single;DP=14;NP=1;PC=0.011;Gene=RUSC1/NM_001105203.1/0;CC=c.2540+178delT;VC=Intron;Gene=RUSC1/NM_001105204.1/1;CC=c.2222+178delT;VC=Intron;Gene=RUSC1/NM_001105205.1/0;CC=c.1310+178delT;VC=Intron;Gene=RUSC1/NM_001278227.1/0;CC=c.1034+178delT;VC=Intron;Gene=RUSC1/NM_001278228.1/0;CC=c.1115+178delT;VC=Intron;Gene=RUSC1/NM_001278229.1/0;CC=c.815+178delT;VC=Intron;Gene=RUSC1/NM_014328.4/0;CC=c.1133+178delT;VC=Intron;Gene=RUSC1/NM_001278230.1/0;CC=c.1133+178delT;VC=Intron;Gene=RUSC1/NR_103478.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:AT,I,A:13:0:2:3:9,1,3:255,63,99:0.00,2.34,8.39:0.00,0.00,0.00:0.00,2.34,8.39:0.00,0.00,0.56:0.00,0.00,0.00:0.00,0.00,0.56:60,60,60:25.1,10.0,0.0:0,1,0:0,0,0:111,72,110:40,78,41:35,15,4:-,NM_001105203.1(RUSC1) c.2540+164delT:-,NOT_FOUND:-,NOT_FOUND 1 155300363 . C . . NT END=155307450;NT GT ./. 1 155307543 . C . . NT END=155307879;NT GT ./. 1 155308182 . C . . NT END=155309118;NT GT ./. 1 155309160 . C . . NT END=155311726;NT GT ./. 1 155311894 . C . . NT END=155313104;NT GT ./. 1 155313047 rs4971051 T C 163 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.08427,C/0.9157;Gene=ASH1L/NM_018489.2/1;CC=c.8293+58A>G;VC=Intron;DM=ASH1L/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:41:0:0:45:1417:163.08:140.95:22.12:1.00:1.00:1.00:60:36.9:0:0:42:102:30:NM_018489.2(ASH1L) c.8293+58A>G,NM_018489.2(ASH1L) c.8293+58A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 155313278 . C . . NT END=155313394;NT GT ./. 1 155313534 . C . . NT END=155313973;NT GT ./. 1 155314065 . C . . NT END=155315871;NT GT ./. 1 155315999 . c . . NT END=155316173;NT GT ./. 1 155316261 . C . . NT END=155317446;NT GT ./. 1 155317696 . C . . NT END=155319117;NT GT ./. 1 155319251 . C . . NT END=155319332;NT GT ./. 1 155319388 . C . . NT END=155322496;NT GT ./. 1 155319500 . CTT C 7 idl,rn VT=DEL;SST=Single;DP=34;PC=0.165;Gene=ASH1L/NM_018489.2/1;CC=c.7367-115_7367-114delAA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:CTT,G,T,C:31:3:0:7:22,1,4,4:568,14,44,183:0.00,0.21,1.60,7.32:0.00,-0.03,-0.14,-0.14:0.00,0.24,1.74,7.45:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.37:0.00,0.00,0.00,0.94:60,60,60,60:23.2,91.0,33.2,81.2:0,0,0,3:0,0,0,0:131,148,38,96:19,2,113,55:11,0,9,11:-,NM_018489.2(ASH1L) c.7367-115_7367-114delAA:-,NOT_FOUND:-,NOT_FOUND 1 155322142 rs12239114 G A 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6637,A/0.3363;PC=0.001;Gene=ASH1L/NM_018489.2/1;CC=c.7366+355C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:5:5:0:0:2,3:70,101:6.49,0.00:4.65,0.00:1.84,0.00:0.91,0.00:0.91,0.00:0.60,0.00:60,60:35.0,0.0:0,0:0,0:43,16:86,134:34,12:NM_018489.2(ASH1L) c.7366+355C>T,-:0.39,-:NOT_FOUND,- 1 155322650 . C . . NT END=155324263;NT GT ./. 1 155324422 . C . . NT END=155327106;NT GT ./. 1 155326923 rs370928440 TTA T 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ASH1L/NM_018489.2/1;CC=c.7055+182_7055+183delTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:TTA,T:3:4:0:5:1,2:13,96:0.00,6.56:0.00,6.56:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:20.0,144.5:0,1:0,0:122,20:28,124:0,0:-,NM_018489.2(ASH1L) c.7055+182_7055+183delTA:-,NOT_FOUND:-,NOT_FOUND 1 155327091 rs41264233 G A 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.9884,A/0.01158;NP=60;PC=0.010;Gene=ASH1L/NM_018489.2/1;CC=c.7055+16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:33:0:0:19,20:620,611:59.34,0.00:47.32,0.00:12.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,13.2:0,0:0,0:54,50:96,98:24,24:NM_018489.2(ASH1L) c.7055+16C>T,-:0.01,-:0.006766,- 1 155327202 . C . . NT END=155327375;NT GT ./. 1 155327541 . C . . NT END=155330091;NT GT ./. 1 155330201 . C . . NT END=155340294;NT GT ./. 1 155330237 . A AT 11 rn VT=INS;SST=Single;DP=28;NP=6;Gene=ASH1L/NM_018489.2/1;CC=c.6687-38_6687-37insA;VC=Intron;DM=ASH1L/SET;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,AT,D:28:13:4:3:21,4,3:669,134,100:0.00,10.53,7.49:0.00,2.53,1.08:0.00,8.00,6.41:0.00,0.66,0.00:0.00,0.79,0.00:0.00,0.93,0.00:60,60,60:15.3,0.0,0.0:0,0,0:0,0,0:109,113,91:32,38,60:18,2,20:-,NM_018489.2(ASH1L) c.6687-38_6687-37insA:-,NOT_FOUND:-,NOT_FOUND 1 155340442 . C . . NT END=155340567;NT GT ./. 1 155340775 . C . . NT END=155348071;NT GT ./. 1 155348181 . C . . NT END=155348293;NT GT ./. 1 155348340 . C . . NT END=155349833;NT GT ./. 1 155349923 . C . . NT END=155365249;NT GT ./. 1 155365345 . C . . NT END=155385534;NT GT ./. 1 155385715 . C . . NT END=155408117;NT GT ./. 1 155408635 rs4971053 T C 527 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=T/0.05132,C/0.9487;PC=0.991;Gene=ASH1L/NM_018489.2/1;CC=c.5311A>G;ProtCh=p.T1771A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:143:87:0:0:143:4597:527.37:260.83:266.53:1.00:1.00:1.00:60:38.3:0:0:81:66:34:NM_018489.2(ASH1L) c.5311A>G (p.Thr1771Ala),NM_018489.2(ASH1L) c.5311A>G (p.Thr1771Ala):0.95,0.95:0.952099,0.952099 1 155408860 . C . . NT END=155410293;NT GT ./. 1 155410385 . C . . NT END=155429587;NT GT ./. 1 155429490 rs10796946 A T 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6609,T/0.3391;Gene=ASH1L/NM_018489.2/1;CC=c.5086+98T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:14:14:0:0:6,1,7:190,18,223:0.00,0.96,21.73:0.00,0.96,21.73:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:8.8,161.0,35.0:0,0,0:0,0,0:39,47,62:110,101,89:10,0,34:-,NM_018489.2(ASH1L) c.5086+98T>A:-,0.39:-,NOT_FOUND 1 155429690 . C . . NT END=155447676;NT GT ./. 1 155429725 rs10908466 A C 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.6609,C/0.3391;PC=0.438;Gene=ASH1L/NM_018489.2/1;CC=c.4985-36T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:35:14:0:0:21,14:670,482:0.00,44.65:0.00,15.22:0.00,29.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,46.4:0,0:0,0:106,92:42,46:27,18:-,NM_018489.2(ASH1L) c.4985-36T>G:-,0.39:-,0.239117 1 155452241 . C . . NT END=155490890;NT GT ./. 1 155491311 . C . . NT END=155580039;NT GT ./. 1 155532316 rs12403379 T C 483 nt VT=SNV;PN=T;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ASH1L/NM_018489.2/1;CC=c.-472A>G;VC=5UTR;Gene=ASH1L-AS1/NR_027023.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:129:91:0:0:129:4217:483.04:284.30:198.74:1.00:1.00:1.00:60:124.0:0:0:84:65:38:NR_027023.1(ASH1L-AS1) n.545T>C,NR_027023.1(ASH1L-AS1) n.545T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 155532325 rs12403380 T C 464 nt VT=SNV;PN=T;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=254;PC=1.000;Gene=ASH1L-AS1/NR_027023.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:125:88:0:0:125:4051:464.46:255.32:209.14:1.00:1.00:1.00:60:129.5:0:0:84:67:38:NR_027023.1(ASH1L-AS1) n.554T>C,NR_027023.1(ASH1L-AS1) n.554T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 155532332 rs34869594 T C 470 nt VT=SNV;PN=T;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=T/0.01118,C/0.9888;PC=0.157;Gene=ASH1L-AS1/NR_027023.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:128:88:0:0:128:4094:470.33:255.82:214.51:1.00:1.00:1.00:60:128.9:0:0:82:68:40:NR_027023.1(ASH1L-AS1) n.561T>C,NR_027023.1(ASH1L-AS1) n.561T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 155532341 rs61812107 T C 497 nt VT=SNV;PN=T;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=NA;PC=0.068;Gene=ASH1L-AS1/NR_027023.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:134:86:0:0:134:4331:496.82:248.59:248.22:1.00:1.00:1.00:60:122.2:0:0:75:75:40:NR_027023.1(ASH1L-AS1) n.570T>C,NR_027023.1(ASH1L-AS1) n.570T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 155580352 . G . . NT END=155580829;NT GT ./. 1 155580900 . G . . NT END=155581006;NT GT ./. 1 155581147 . G . . NT END=155581217;NT GT ./. 1 155581311 rs141265144 T C 155 lc VT=SNV;PN=C;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.6687,C/0.3313;PC=0.002;Gene=MSTO1/NM_001256532.1/0;CC=c.367-29T>C;VC=Intron;Gene=MSTO1/NM_001256533.1/0;CC=c.367-29T>C;VC=Intron;Gene=MSTO1/NM_018116.3/1;CC=c.367-29T>C;VC=Intron;Gene=MSTO1/NR_046292.1/0;VC=NonCoding;Gene=MSTO1/NR_046293.1/0;VC=NonCoding;Gene=MSTO1/NR_046294.1/0;VC=NonCoding;Gene=MSTO1/NR_046295.1/0;VC=NonCoding;Gene=MSTO2P/NR_024117.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:96:61:0:0:49,47:1608,1531:155.28,0.00:75.47,0.00:79.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:42.5,8.0:0,0:0,0:86,86:63,63:28,27:NM_018116.3(MSTO1) c.367-29T>C,-:0.37,-:NOT_FOUND,- 1 155581395 . G . . NT END=155581479;NT GT ./. 1 155581619 . G . . NT END=155581773;NT GT ./. 1 155581757 rs145150302 A G 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1092;Gene=MSTO1/NM_001256532.1/0;CC=c.561-17A>G;VC=Intron;Gene=MSTO1/NM_001256533.1/0;CC=c.561-17A>G;VC=Intron;Gene=MSTO1/NM_018116.3/1;CC=c.561-17A>G;VC=Intron;Gene=MSTO1/NR_046292.1/0;VC=NonCoding;Gene=MSTO1/NR_046293.1/0;VC=NonCoding;Gene=MSTO1/NR_046294.1/0;VC=NonCoding;Gene=MSTO1/NR_046295.1/0;VC=NonCoding;Gene=MSTO2P/NR_024117.2/0;VC=NonCoding;DM=MSTO1/Tubulin_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:390:45.19:45.19:0.00:1.00:1.00:0.00:40:31.7:0:0:18:133:13:NM_018116.3(MSTO1) c.561-17A>G,NM_018116.3(MSTO1) c.561-17A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 155581892 . G . . NT END=155581972;NT GT ./. 1 155582108 . G . . NT END=155582208;NT GT ./. 1 155582362 . G . . NT END=155582634;NT GT ./. 1 155582767 . G . . NT END=155582839;NT GT ./. 1 155583025 . G . . NT END=155583215;NT GT ./. 1 155583358 . G . . NT END=155583447;NT GT ./. 1 155583558 . G . . NT END=155583849;NT GT ./. 1 155583937 rs147713038 A G 16 lc VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=MSTO1/NM_001256532.1/0;CC=c.1583A>G;ProtCh=p.K528R;VC=Missense;Gene=MSTO1/NM_001256533.1/0;CC=c.1550A>G;ProtCh=p.K517R;VC=Missense;Gene=MSTO1/NM_018116.3/1;CC=c.1586A>G;ProtCh=p.K529R;VC=Missense;Gene=MSTO1/NR_046292.1/0;VC=NonCoding;Gene=MSTO1/NR_046293.1/0;VC=NonCoding;Gene=MSTO1/NR_046294.1/0;VC=NonCoding;Gene=MSTO1/NR_046295.1/0;VC=NonCoding;Gene=MSTO2P/NR_024117.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:19:3:0:0:13,6:382,181:0.00,15.82:0.00,2.43:0.00,13.39:0.00,0.94:0.00,0.70:0.00,0.99:40,40:3.8,48.7:0,0:0,0:82,109:69,41:36,36:-,NM_018116.3(MSTO1) c.1586A>G (p.Lys529Arg):-,NOT_FOUND:-,NOT_FOUND 1 155584065 . A . . NT END=155629447;NT GT ./. 1 155584627 rs143908201 A G 140 nt VT=SNV;PN=G;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.997,G/0.002995;NP=45;PC=1.000;Gene=MSTO1/NM_001256532.1/0;CC=c.*563A>G;VC=3UTR;Gene=MSTO1/NM_001256533.1/0;CC=c.*563A>G;VC=3UTR;Gene=MSTO1/NM_018116.3/1;CC=c.*563A>G;VC=3UTR;Gene=MSTO1/NR_046292.1/0;VC=NonCoding;Gene=MSTO1/NR_046293.1/0;VC=NonCoding;Gene=MSTO1/NR_046294.1/0;VC=NonCoding;Gene=MSTO1/NR_046295.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:29:0:0:38,43:1201,1442:0.00,140.41:0.00,33.67:0.00,106.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,44.9:0,0:0,0:88,77:59,71:32,34:-,NM_018116.3(MSTO1) c.*563A>G:-,0.0046:-,NOT_FOUND 1 155586444 rs3851912 T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6096,G/0.3904 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:107:12.53:0.00:12.53:1.00:0.00:1.00:60:40.8:0:0:41:109:23:chr1 g.155586443T>G (intergenic),chr1 g.155586443T>G (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 1 155616555 rs12137802 A T 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.9441,T/0.05591 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:21:6:0:0:13,8:372,259:0.00,23.67:0.00,6.56:0.00,17.11:0.00,0.99:0.00,0.93:0.00,0.99:60,60:1.9,32.4:0,0:0,0:97,118:54,31:39,19:-,chr1 g.155616554A>T (intergenic):-,0.06:-,NOT_FOUND 1 155617961 . CA C 8 idl,rn VT=DEL;SST=Single;DP=7;PC=0.007;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:CA,C:5:7:0:5:2,3:49,125:0.00,8.14:0.00,8.14:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:89.0,99.3:0,2:0,0:88,58:57,53:50,53:-,chr1 g.155617962delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 155618415 rs5777949 CT C 234 nt VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=CT/0.09145,C/0.9085;DB;DBA=NA;PAF=CT/0.09145,C/0.9085;DB;DBA=NA;PAF=CT/0.09145,C/0.9085;NP=919;PC=1.000;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:CT,C:66:31:0:65:1,65:27,2056:0.00,234.35:0.00,73.03:0.00,161.32:0.00,1.00:0.00,1.00:0.00,1.00:60,65:0.0,5.4:0,0:0,0:149,87:2,63:0,37:chr1 g.155618416delT (intergenic),chr1 g.155618416delT (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 1 155618630 rs2048431 G A 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6603,A/0.3397 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:11:1:0:0:7,4:170,132:17.09,0.00:3.48,0.00:13.61,0.00:1.00,0.00:0.76,0.00:1.00,0.00:60,60:69.4,2.8:0,0:0,0:76,113:45,37:41,33:chr1 g.155618629G>A (intergenic),-:0.38,-:NOT_FOUND,- 1 155630725 . C . . NT END=155631097;NT GT ./. 1 155630752 rs3738590 A G 166 nt VT=SNV;PN=G;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=A/0.6615,G/0.3385;Gene=YY1AP1/NM_001198899.1/0;CC=c.964-48T>C;VC=Intron;Gene=YY1AP1/NM_001198903.1/0;CC=c.1411-48T>C;VC=Intron;Gene=YY1AP1/NM_001198904.1/0;CC=c.1351-48T>C;VC=Intron;Gene=YY1AP1/NM_001198902.1/0;CC=c.997-48T>C;VC=Intron;Gene=YY1AP1/NM_139119.2/0;CC=c.997-48T>C;VC=Intron;Gene=YY1AP1/NM_001198900.1/0;CC=c.964-48T>C;VC=Intron;Gene=YY1AP1/NM_001198905.1/0;CC=c.937-48T>C;VC=Intron;Gene=YY1AP1/NM_018253.3/1;CC=c.964-48T>C;VC=Intron;Gene=YY1AP1/NM_139121.2/0;CC=c.799-48T>C;VC=Intron;Gene=YY1AP1/NM_001198901.1/0;CC=c.997-48T>C;VC=Intron;Gene=YY1AP1/NM_001198906.1/0;CC=c.1195-28T>C;VC=Intron;Gene=YY1AP1/NM_139118.2/0;CC=c.1135-48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:109:38:0:0:55,54:1726,1728:0.00,165.67:0.00,46.98:0.00,118.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,40.1:0,0:0,0:121,98:29,49:20,24:-,NM_001198903.1(YY1AP1) c.1411-48T>C:-,0.38:-,0.210672 1 155631215 . C . . NT END=155638417;NT GT ./. 1 155631307 rs59522498 A AACACACAC 22 idl,nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=16;NP=9;Gene=YY1AP1/NM_001198899.1/0;CC=c.847-94_847-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_001198903.1/0;CC=c.1294-94_1294-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_001198904.1/0;CC=c.1234-94_1234-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_001198902.1/0;CC=c.880-94_880-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_139119.2/0;CC=c.880-94_880-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_001198900.1/0;CC=c.847-94_847-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_001198905.1/0;CC=c.820-94_820-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_018253.3/1;CC=c.847-94_847-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_139121.2/0;CC=c.682-94_682-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_001198901.1/0;CC=c.880-94_880-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_001198906.1/0;CC=c.1078-94_1078-93insGTGTGTGT;VC=Intron;Gene=YY1AP1/NM_139118.2/0;CC=c.1018-94_1018-93insGTGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:A,C,AACACACAC,D:32:6:10:5:20,1,8,3:570,10,310,153:0.00,-0.01,21.52,6.64:0.00,-0.04,1.23,1.29:0.00,0.03,20.28,5.36:0.00,0.00,0.98,0.00:0.00,0.00,0.75,0.00:0.00,0.00,1.00,0.00:60,54,60,60:5.2,73.0,32.4,11.7:0,0,2,2:0,0,0,0:83,117,58,78:58,34,89,68:47,0,23,6:-,NM_001198903.1(YY1AP1) c.1294-94_1294-93insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 155638569 . C . . NT END=155640110;NT GT ./. 1 155640242 . G A 123 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=88;NP=1;PC=0.994;Gene=YY1AP1/NM_001198899.1/0;CC=c.564C>T;ProtCh=p.P188=;VC=Silent;Gene=YY1AP1/NM_001198903.1/0;CC=c.1011C>T;ProtCh=p.P337=;VC=Silent;Gene=YY1AP1/NM_001198904.1/0;CC=c.1011C>T;ProtCh=p.P337=;VC=Silent;Gene=YY1AP1/NM_001198902.1/0;CC=c.597C>T;ProtCh=p.P199=;VC=Silent;Gene=YY1AP1/NM_139119.2/0;CC=c.597C>T;ProtCh=p.P199=;VC=Silent;Gene=YY1AP1/NM_001198900.1/0;CC=c.564C>T;ProtCh=p.P188=;VC=Silent;Gene=YY1AP1/NM_001198905.1/0;CC=c.597C>T;ProtCh=p.P199=;VC=Silent;Gene=YY1AP1/NM_018253.3/1;CC=c.564C>T;ProtCh=p.P188=;VC=Silent;Gene=YY1AP1/NM_139121.2/0;CC=c.399C>T;ProtCh=p.P133=;VC=Silent;Gene=YY1AP1/NM_001198901.1/0;CC=c.597C>T;ProtCh=p.P199=;VC=Silent;Gene=YY1AP1/NM_001198906.1/0;CC=c.795C>T;ProtCh=p.P265=;VC=Silent;Gene=YY1AP1/NM_139118.2/0;CC=c.795C>T;ProtCh=p.P265=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:88:46:0:0:40,1,47:1303,16,1525:123.28,0.13,0.00:50.54,-0.08,0.00:72.74,0.21,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.9,16.0,8.2:0,0,0:0,0,0:99,86,93:50,65,57:35,0,37:NM_001198903.1(YY1AP1) c.1011C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 155640256 . C . . NT END=155642350;NT GT ./. 1 155642523 . C . . NT END=155644800;NT GT ./. 1 155644888 . C . . NT END=155646338;NT GT ./. 1 155646538 . C . . NT END=155648948;NT GT ./. 1 155649105 . C . . NT END=155649199;NT GT ./. 1 155649621 . A . . NT END=155650172;NT GT ./. 1 155649972 rs543735863 CAA C 8 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CAA/0.5371,C/0.4629;DB;DBA=NA;PAF=CAA/0.5371,C/0.4629;NP=3;PC=0.002;Gene=YY1AP1/NM_001198903.1/0;CC=c.435+233_435+234delTT;VC=Intron;Gene=YY1AP1/NM_001198904.1/0;CC=c.435+233_435+234delTT;VC=Intron;Gene=YY1AP1/NM_001198902.1/0;CC=c.21+233_21+234delTT;VC=Intron;Gene=YY1AP1/NM_139119.2/0;CC=c.21+233_21+234delTT;VC=Intron;Gene=YY1AP1/NM_001198900.1/0;CC=c.-12-671_-12-670delTT;VC=Intron;Gene=YY1AP1/NM_001198905.1/0;CC=c.21+233_21+234delTT;VC=Intron;Gene=YY1AP1/NM_018253.3/1;CC=c.-93-175_-93-174delTT;VC=Intron;Gene=YY1AP1/NM_139121.2/0;CC=c.-334+233_-334+234delTT;VC=Intron;Gene=YY1AP1/NM_001198901.1/0;CC=c.21+233_21+234delTT;VC=Intron;Gene=YY1AP1/NM_001198906.1/0;CC=c.219+233_219+234delTT;VC=Intron;Gene=YY1AP1/NM_139118.2/0;CC=c.219+233_219+234delTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:CAA,I,C:7:7:1:4:3,1,3:103,33,121:0.00,2.70,8.24:0.00,2.70,6.19:0.00,0.00,2.05:0.00,0.00,0.67:0.00,0.00,0.95:0.00,0.00,0.58:60,60,60:71.3,0.0,3.0:0,0,1:0,0,0:49,10,73:102,141,77:7,0,14:-,NM_001198903.1(YY1AP1) c.435+233_435+234delTT:-,NOT_FOUND:-,NOT_FOUND 1 155650248 . C . . NT END=155657861;NT GT ./. 1 155658085 rs2666826 T C 348 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=259;DB;DBA=NA;PAF=T/0.4685,C/0.5315;PC=1.000;Gene=YY1AP1/NM_001198903.1/0;CC=c.171A>G;ProtCh=p.E57=;VC=Silent;Gene=YY1AP1/NM_001198904.1/0;CC=c.171A>G;ProtCh=p.E57=;VC=Silent;Gene=YY1AP1/NM_001198902.1/0;CC=c.-21+365A>G;VC=Intron;Gene=YY1AP1/NM_139119.2/0;CC=c.-151-93A>G;VC=Intron;Gene=YY1AP1/NM_001198900.1/0;CC=c.-143-93A>G;VC=Intron;Gene=YY1AP1/NM_001198905.1/0;CC=c.-151-93A>G;VC=Intron;Gene=YY1AP1/NM_018253.3/1;CC=c.-265-93A>G;VC=Intron;Gene=YY1AP1/NM_139121.2/0;CC=c.-375+636A>G;VC=Intron;Gene=YY1AP1/NM_001198901.1/0;CC=c.-21+636A>G;VC=Intron;Gene=YY1AP1/NM_001198906.1/0;CC=c.48-93A>G;VC=Intron;Gene=YY1AP1/NM_139118.2/0;CC=c.48-93A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:259:201:0:0:112,147:3709,4388:347.54,0.00:211.58,0.00:135.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,10.9:0,0:0,0:63,64:81,83:36,33:NM_001198903.1(YY1AP1) c.171A>G (p.(=)),-:0.54,-:NOT_FOUND,- 1 155658341 rs678157 T C 427 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=339;DB;DBA=NA;PAF=T/0.5315,C/0.4685;PC=0.001;Gene=YY1AP1/NM_001198903.1/0;CC=c.-86A>G;VC=5UTR;Gene=YY1AP1/NM_001198904.1/0;CC=c.-86A>G;VC=5UTR;Gene=YY1AP1/NM_001198902.1/0;CC=c.-21+109A>G;VC=Intron;Gene=YY1AP1/NM_139119.2/0;CC=c.-152+109A>G;VC=Intron;Gene=YY1AP1/NM_001198900.1/0;CC=c.-144+109A>G;VC=Intron;Gene=YY1AP1/NM_001198905.1/0;CC=c.-152+109A>G;VC=Intron;Gene=YY1AP1/NM_018253.3/1;CC=c.-266+109A>G;VC=Intron;Gene=YY1AP1/NM_139121.2/0;CC=c.-375+380A>G;VC=Intron;Gene=YY1AP1/NM_001198901.1/0;CC=c.-21+380A>G;VC=Intron;Gene=YY1AP1/NM_001198906.1/0;CC=c.48-349A>G;VC=Intron;Gene=YY1AP1/NM_139118.2/0;CC=c.48-349A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:339:239:0:0:150,189:4570,6179:427.34,0.00:243.55,0.00:183.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,10.8:0,0:0,0:70,75:77,74:40,37:NM_001198903.1(YY1AP1) c.-86A>G,-:0.49,-:NOT_FOUND,- 1 155658448 . A . . NT END=155658449;NT GT ./. 1 155658569 . C . . NT END=155658720;NT GT ./. 1 155658768 . G . . NT END=155679570;NT GT ./. 1 155658940 rs4824 T G 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6703,G/0.3297;Gene=DAP3/NM_001199849.1/1;CC=c.-126T>G;VC=5UTR;Gene=DAP3/NM_001199850.1/0;CC=c.-33T>G;VC=5UTR;Gene=DAP3/NM_001199851.1/0;CC=c.-33T>G;VC=5UTR;Gene=DAP3/NM_004632.3/0;CC=c.-33T>G;VC=5UTR;Gene=DAP3/NM_033657.2/0;CC=c.-102T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:18:0:0:0:9,9:306,289:29.48,0.00:0.00,0.00:29.48,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:58.3,4.0:0,0:0,0:93,107:58,44:20,30:NM_001199849.1(DAP3) c.-126T>G,-:0.37,-:NOT_FOUND,- 1 155671678 rs670876 T G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.531,G/0.469;PC=0.962;Gene=DAP3/NM_001199849.1/1;CC=c.-100-7146T>G;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.-7-7886T>G;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.-7-7886T>G;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.-7-7886T>G;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.-7-7886T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:G,T:6:6:0:0:3,3:103,95:9.93,0.00:9.93,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:40,42:100.3,0.0:0,0:0,0:29,31:119,119:14,4:NM_001199849.1(DAP3) c.-100-7146T>G,-:0.49,-:NOT_FOUND,- 1 155679543 rs372695062 CT C 11 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=89;PC=0.054;Gene=DAP3/NM_001199849.1/1;CC=c.-7-8delT;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.-7-8delT;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.-7-8delT;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.-7-8delT;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.-7-8delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CT,I,C:44:32:6:6:35,4,5:1127,188,155:0.00,8.49,11.32:0.00,2.98,8.50:0.00,5.51,2.82:0.00,0.00,0.74:0.00,0.00,0.92:0.00,0.00,0.88:60,60,60:13.7,18.2,36.6:0,2,0:0,0,0:64,24,74:87,126,75:23,20,26:-,NM_001199849.1(DAP3) c.-7-20delT:-,NOT_FOUND:-,NOT_FOUND 1 155679616 . G . . NT END=155686796;NT GT ./. 1 155686739 rs377724521 CA C 32 idl,rn VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=46;Gene=DAP3/NM_001199849.1/1;CC=c.46-41delA;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.46-41delA;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.46-4552delA;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.46-41delA;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.46-41delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,CA,I,C:77:70:11:18:8,46,10,13:93,1477,355,499:3.69,0.00,25.26,32.29:-1.70,0.00,22.78,26.07:5.39,0.00,2.49,6.21:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:48.6,17.9,46.8,20.2:0,0,1,3:0,0,0,0:32,64,30,25:117,72,121,105:14,47,21,20:-,NM_001199849.1(DAP3) c.46-57delA:-,NOT_FOUND:-,NOT_FOUND 1 155686920 . G . . NT END=155691307;NT GT ./. 1 155691410 . G . . NT END=155695172;NT GT ./. 1 155695282 . G . . NT END=155695717;NT GT ./. 1 155695811 . G . . NT END=155697398;NT GT ./. 1 155695904 rs377658512 CT C 11 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;PC=0.923;Gene=DAP3/NM_001199849.1/1;CC=c.472+111delT;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.370+111delT;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.349+111delT;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.472+111delT;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.472+111delT;VC=Intron;DM=DAP3/DAP3;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CT,I,C:14:3:2:5:8,2,4:230,67,153:0.00,5.41,10.54:0.00,-0.06,2.97:0.00,5.47,7.57:0.00,0.00,0.76:0.00,0.00,0.64:0.00,0.00,0.97:60,60,60:36.9,0.0,6.8:0,0,1:0,0,0:130,91,116:20,58,35:15,20,11:-,NM_001199849.1(DAP3) c.472+95delT:-,NOT_FOUND:-,NOT_FOUND 1 155697259 rs397948723 C CAA 12 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=DAP3/NM_001199849.1/1;CC=c.473-122_473-121insAA;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.371-122_371-121insAA;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.350-122_350-121insAA;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.473-122_473-121insAA;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.473-122_473-121insAA;VC=Intron;DM=DAP3/DAP3;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,CAA,D:13:19:7:5:7,4,2:216,220,151:0.00,11.68,4.96:0.00,11.68,4.96:0.00,0.00,0.00:0.00,0.72,0.00:0.00,0.72,0.00:0.00,0.00,0.00:60,60,60:33.9,59.0,126.5:0,3,3:0,0,0:91,48,30:60,103,121:42,27,11:-,NM_001199849.1(DAP3) c.473-140_473-139insAA:-,NOT_FOUND:-,NOT_FOUND 1 155697530 . G . . NT END=155698832;NT GT ./. 1 155698645 rs7546258 T A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6466,A/0.3534;NP=144;PC=0.070;Gene=DAP3/NM_001199849.1/1;CC=c.604-188T>A;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.502-188T>A;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.481-188T>A;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.604-188T>A;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.604-188T>A;VC=Intron;DM=DAP3/DAP3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,T:10:10:0:0:6,4:205,129:20.44,0.00:20.44,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:39.7,63.5:0,0:0,0:45,86:105,64:26,26:NM_001199849.1(DAP3) c.604-188T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 155698650 rs397785720 CA C 16 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=53;PC=0.159;Gene=DAP3/NM_001199849.1/1;CC=c.604-168delA;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.502-168delA;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.481-168delA;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.604-168delA;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.604-168delA;VC=Intron;DM=DAP3/DAP3;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CA,I,C:9:11:1:7:3,1,5:82,24,231:0.00,1.72,16.39:0.00,1.72,16.39:0.00,0.00,0.00:0.00,0.00,0.93:0.00,0.00,0.93:0.00,0.00,0.00:60,60,60:30.7,162.0,47.6:0,0,2:0,0,0:112,71,29:39,79,122:11,0,25:-,NM_001199849.1(DAP3) c.604-182delA:-,NOT_FOUND:-,NOT_FOUND 1 155698914 . G . . NT END=155698998;NT GT ./. 1 155699158 . G . . NT END=155701146;NT GT ./. 1 155701055 . CA C 13 idl,rn VT=DEL;SST=Single;DP=25;NP=74;PC=0.001;Gene=DAP3/NM_001199849.1/1;CC=c.844-77delA;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.742-77delA;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.721-77delA;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.844-77delA;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.844-77delA;VC=Intron;DM=DAP3/DAP3;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:CA,I,C:24:24:2:6:17,2,5:536,56,190:0.00,3.75,12.85:0.00,3.84,13.09:0.00,-0.09,-0.24:0.00,0.00,0.83:0.00,0.00,0.98:0.00,0.00,0.60:60,60,60:17.2,58.0,17.2:0,0,1:0,0,0:91,81,38:55,69,112:19,8,28:-,NM_001199849.1(DAP3) c.844-91delA:-,NOT_FOUND:-,NOT_FOUND 1 155701207 . G . . NT END=155701734;NT GT ./. 1 155701825 . G . . NT END=155706736;NT GT ./. 1 155702111 rs9426933 T C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4447,C/0.5553;Gene=DAP3/NM_001199849.1/1;CC=c.993+287T>C;VC=Intron;Gene=DAP3/NM_001199850.1/0;CC=c.891+287T>C;VC=Intron;Gene=DAP3/NM_001199851.1/0;CC=c.870+287T>C;VC=Intron;Gene=DAP3/NM_004632.3/0;CC=c.993+287T>C;VC=Intron;Gene=DAP3/NM_033657.2/0;CC=c.993+287T>C;VC=Intron;DM=DAP3/DAP3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,T:6:1:0:0:3,3:99,76:9.53,0.00:-0.30,0.00:9.83,0.00:0.73,0.00:0.67,0.00:0.96,0.00:60,60:40.0,39.0:0,0:0,0:127,111:23,25:1,15:NM_001199849.1(DAP3) c.993+287T>C,-:0.58,-:NOT_FOUND,- 1 155706855 . G . . NT END=155707947;NT GT ./. 1 155708034 . G . . NT END=155720374;NT GT ./. 1 155715641 rs11264409 G A 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.6506,A/0.3494;PC=1.000;Gene=MSTO2P/NR_024117.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:32:22:0:0:14,1,17:435,6,543:40.89,-0.14,0.00:21.88,-0.03,0.00:19.01,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:59,60,60:45.0,15.0,12.8:0,0,0:0,0,0:113,150,59:36,1,92:15,0,29:NR_024117.2(MSTO2P) n.83G>A,-:0.4,-:NOT_FOUND,- 1 155719111 rs2002356 A C 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.778,C/0.222;Gene=MSTO2P/NR_024117.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:38:0:0:31,12:997,397:0.00,34.37:0.00,20.16:0.00,14.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,34.8:0,0:0,0:52,68:99,82:16,45:-,NR_024117.2(MSTO2P) n.1254-7A>C:-,0.21:-,NOT_FOUND 1 155719467 rs394851 G T 7 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5505,T/0.4495;Gene=MSTO2P/NR_024117.2/0;VC=NonCoding;Gene=GON4L/NM_001282858.1/0;CC=c.*908C>A;VC=3UTR;Gene=GON4L/NM_001282860.1/1;CC=c.*908C>A;VC=3UTR;Gene=GON4L/NM_001282856.1/0;CC=c.*908C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:15:4:0:0:12,3:396,86:0.00,6.77:0.00,7.84:0.00,-1.07:0.00,0.55:0.00,0.60:0.00,0.87:42,15:11.6,40.3:0,0:0,0:98,7:52,142:33,4:-,NR_024117.2(MSTO2P) n.1468+45G>T:-,NOT_FOUND:-,NOT_FOUND 1 155720525 . C . . NT END=155721557;NT GT ./. 1 155721661 . C . . NT END=155721750;NT GT ./. 1 155721911 rs201235180 C T 149 lc VT=SNV;PN=T;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.9942,T/0.005791;NP=31;PC=0.995;Gene=GON4L/NM_001282858.1/0;CC=c.6310G>A;ProtCh=p.E2104K;VC=Missense;Gene=GON4L/NM_001282860.1/1;CC=c.6313G>A;ProtCh=p.E2105K;VC=Missense;Gene=GON4L/NM_001282856.1/0;CC=c.6313G>A;ProtCh=p.E2105K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:126:88:0:0:1,72,53:8,2387,1606:-0.20,0.00,148.80:-0.09,0.00,80.89:-0.12,0.00,67.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:58,60,60:35.0,9.3,43.9:0,0,0:0,0,0:113,66,71:38,79,79:0,33,38:-,NM_001037533.1(GON4L) c.6310G>A (p.Glu2104Lys):-,0.0005:-,0.002538 1 155722382 . C . . NT END=155722994;NT GT ./. 1 155722506 rs12134456 C G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.857,G/0.143;Gene=GON4L/NM_001282858.1/0;CC=c.5843-128G>C;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.5843-125G>C;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.5843-125G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:25:0:0:0:13,11,1:384,356,17:0.00,33.65,0.61:0.00,0.00,0.00:0.00,33.65,0.61:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,56:44.8,40.9,154.0:0,0,0:0,0,0:79,115,102:68,36,10:26,22,0:-,NM_001037533.1(GON4L) c.5843-128G>C:-,0.17:-,NOT_FOUND 1 155722557 rs4278368 G A 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6466,A/0.3534;Gene=GON4L/NM_001282858.1/0;CC=c.5843-179C>T;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.5843-176C>T;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.5843-176C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:12:0:0:0:9,3:270,97:28.34,0.00:0.00,0.00:28.34,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:61.0,43.0:0,0:0,0:106,134:29,17:16,5:NM_001037533.1(GON4L) c.5843-179C>T,-:0.4,-:NOT_FOUND,- 1 155723206 . C . . NT END=155724165;NT GT ./. 1 155723297 rs6427286 T C 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.4477,C/0.5523;Gene=GON4L/NM_001282858.1/0;CC=c.5632-92A>G;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.5632-92A>G;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.5632-92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:4:0:0:18,17:531,499:51.15,0.00:6.81,0.00:44.35,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:49.4,27.4:0,0:0,0:95,107:50,44:26,35:NM_001037533.1(GON4L) c.5632-92A>G,-:0.57,-:NOT_FOUND,- 1 155723420 rs6427287 T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4475,C/0.5525;PC=0.004;Gene=GON4L/NM_001282858.1/0;CC=c.5632-215A>G;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.5632-215A>G;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.5632-215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:6:0:0:0:5,1:144,33:15.57,0.00:0.00,0.00:15.57,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:43.2,18.0:0,0:0,0:99,99:51,50:4,0:NM_001037533.1(GON4L) c.5632-215A>G,-:0.57,-:NOT_FOUND,- 1 155724280 . C . . NT END=155726748;NT GT ./. 1 155726869 . C . . NT END=155726970;NT GT ./. 1 155727115 . C . . NT END=155727681;NT GT ./. 1 155727826 . C . . NT END=155730234;NT GT ./. 1 155730433 . C . . NT END=155731980;NT GT ./. 1 155732166 . C . . NT END=155733102;NT GT ./. 1 155733356 . C . . NT END=155734574;NT GT ./. 1 155735012 rs2297775 T C 241 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=T/0.6458,C/0.3542;Gene=GON4L/NM_001282858.1/0;CC=c.4252A>G;ProtCh=p.M1418V;VC=Missense;Gene=GON4L/NM_001282860.1/1;CC=c.4252A>G;ProtCh=p.M1418V;VC=Missense;Gene=GON4L/NM_001282856.1/0;CC=c.4252A>G;ProtCh=p.M1418V;VC=Missense;Gene=GON4L/NM_001282861.1/0;CC=c.4252A>G;ProtCh=p.M1418V;VC=Missense;Gene=GON4L/NM_032292.5/0;CC=c.4252A>G;ProtCh=p.M1418V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:138:69:0:0:77,61:2452,1947:240.68,0.00:108.31,0.00:132.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,7.1:0,0:0,0:90,87:61,60:41,28:NM_001037533.1(GON4L) c.4252A>G (p.Met1418Val),-:0.4,-:0.270952,- 1 155736501 . C . . NT END=155737215;NT GT ./. 1 155737333 . C . . NT END=155740857;NT GT ./. 1 155737385 rs849712 C T 127 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.07208,T/0.9279;Gene=GON4L/NM_001282858.1/0;CC=c.2647-53G>A;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.2647-53G>A;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.2647-53G>A;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.2647-53G>A;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.2647-53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:T:34:14:0:0:34:1109:127.08:44.23:82.85:1.00:1.00:1.00:60:41.9:0:0:110:40:34:NM_001037533.1(GON4L) c.2647-53G>A,NM_001037533.1(GON4L) c.2647-53G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 1 155737425 rs71591911 AACAC A 28 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=AACAC/0.5687,A/0.4313;DB;DBA=NA;PAF=AACAC/0.5687,A/0.4313;NP=606;Gene=GON4L/NM_001282858.1/0;CC=c.2647-97_2647-94delGTGT;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.2647-97_2647-94delGTGT;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.2647-97_2647-94delGTGT;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.2647-97_2647-94delGTGT;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.2647-97_2647-94delGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AACAC,A:23:3:0:15:13,10:351,452:0.00,27.93:0.00,1.43:0.00,26.50:0.00,1.00:0.00,0.76:0.00,1.00:60,70:24.2,54.0:0,5:0,0:63,60:88,90:42,29:-,NM_001037533.1(GON4L) c.2647-97_2647-94delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 155741009 . C . . NT END=155742856;NT GT ./. 1 155743002 . C . . NT END=155744753;NT GT ./. 1 155744965 . C . . NT END=155746185;NT GT ./. 1 155745262 rs822028 T C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=GON4L/NM_001282858.1/0;CC=c.2179-298A>G;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.2179-298A>G;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.2179-298A>G;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.2179-298A>G;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.2179-298A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:5:0:0:0:4,1:119,31:12.72,0.00:0.00,0.00:12.72,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:69.2,85.0:0,0:0,0:115,147:35,3:12,0:NM_001037533.1(GON4L) c.2179-298A>G,-:0.79,-:NOT_FOUND,- 1 155746273 . C . . NT END=155747412;NT GT ./. 1 155746340 rs74563667 CT C 55 rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1492;PC=0.002;Gene=GON4L/NM_001282858.1/0;CC=c.2092-69delA;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.2092-69delA;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.2092-69delA;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.2092-69delA;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.2092-69delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:29:10:0:18:12,17:376,585:0.00,54.86:0.00,11.99:0.00,42.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,1.4:0,1:0,0:143,87:7,63:4,27:-,NM_001037533.1(GON4L) c.2092-69delA:-,NOT_FOUND:-,NOT_FOUND 1 155747369 . CA C 11 rn VT=DEL;SST=Single;DP=42;NP=25;PC=0.196;Gene=GON4L/NM_001282858.1/0;CC=c.2091+43delT;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.2091+43delT;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.2091+43delT;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.2091+43delT;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.2091+43delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CA,C:42:38:0:5:37,5:1187,156:0.00,11.33:0.00,11.77:0.00,-0.44:0.00,0.76:0.00,0.97:0.00,0.70:60,60:5.7,59.2:0,0:0,0:40,32:105,119:23,25:-,NM_001037533.1(GON4L) c.2091+43delT:-,NOT_FOUND:-,NOT_FOUND 1 155747612 . C . . NT END=155753776;NT GT ./. 1 155753289 rs28582361 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5196,C/0.4804;Gene=GON4L/NM_001282858.1/0;CC=c.1892+488A>G;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1892+488A>G;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1892+488A>G;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1892+488A>G;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1892+488A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:151:17.48:17.48:0.00:1.00:1.00:0.00:50:48.2:0:0:60:91:10:NM_001037533.1(GON4L) c.1892+488A>G,NM_001037533.1(GON4L) c.1892+488A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 155753676 rs822019 A G 249 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.1801,G/0.8199;Gene=GON4L/NM_001282858.1/0;CC=c.1892+101T>C;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1892+101T>C;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1892+101T>C;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1892+101T>C;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1892+101T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:39:0:0:68:2168:249.13:122.35:126.78:1.00:1.00:1.00:60:36.4:0:0:85:64:44:NM_001037533.1(GON4L) c.1892+101T>C,NM_001037533.1(GON4L) c.1892+101T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 155753881 . C . . NT END=155755124;NT GT ./. 1 155754117 rs822020 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1308,A/0.8692;Gene=GON4L/NM_001282858.1/0;CC=c.1789-237C>T;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1789-237C>T;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1789-237C>T;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1789-237C>T;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1789-237C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:210:25.16:0.00:25.16:1.00:0.00:1.00:60:65.0:0:0:130:21:17:NM_001037533.1(GON4L) c.1789-237C>T,NM_001037533.1(GON4L) c.1789-237C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 155755097 rs822021 G A 101 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.07149,A/0.9285;Gene=GON4L/NM_001282858.1/0;CC=c.1788+28C>T;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1788+28C>T;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1788+28C>T;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1788+28C>T;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1788+28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:21:0:0:27:880:100.85:62.97:37.88:1.00:1.00:1.00:60:38.9:0:0:42:107:20:NM_001037533.1(GON4L) c.1788+28C>T,NM_001037533.1(GON4L) c.1788+28C>T:0.94,0.94:0.923881,0.923881 1 155755166 . C . . NT END=155764840;NT GT ./. 1 155755239 rs822022 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.1376,C/0.8624;Gene=GON4L/NM_001282858.1/0;CC=c.1748-74A>G;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1748-74A>G;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1748-74A>G;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1748-74A>G;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1748-74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:C:16:7:0:0:16:460:53.34:16.60:36.74:1.00:1.00:1.00:60:52.2:0:0:115:36:18:NM_001037533.1(GON4L) c.1748-74A>G,NM_001037533.1(GON4L) c.1748-74A>G:0.88,0.88:0.858519,0.858519 1 155764943 . C . . NT END=155774739;NT GT ./. 1 155774599 rs822016 T C 63 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1318,C/0.8682;PC=0.064;Gene=GON4L/NM_001282858.1/0;CC=c.1645+141A>G;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1645+141A>G;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1645+141A>G;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1645+141A>G;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1645+141A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:544:62.51:62.51:0.00:1.00:1.00:0.00:60:34.3:0:0:22:128:19:NM_001037533.1(GON4L) c.1645+141A>G,NM_001037533.1(GON4L) c.1645+141A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 155774933 . C . . NT END=155783424;NT GT ./. 1 155783596 . C . . NT END=155784120;NT GT ./. 1 155783763 rs822012 C T 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1791,T/0.8209;PC=0.010;Gene=GON4L/NM_001282858.1/0;CC=c.1282-168G>A;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1282-168G>A;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1282-168G>A;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1282-168G>A;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1282-168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:2:0:0:8:225:26.27:7.45:18.81:1.00:1.00:1.00:60:57.4:0:0:123:27:19:NM_001037533.1(GON4L) c.1282-168G>A,NM_001037533.1(GON4L) c.1282-168G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 155784241 . C . . NT END=155785595;NT GT ./. 1 155784372 rs822013 G A 113 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.07188,A/0.9281;Gene=GON4L/NM_001282858.1/0;CC=c.1162-132C>T;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1162-132C>T;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1162-132C>T;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1162-132C>T;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1162-132C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:5:0:0:32:978:112.99:11.46:101.53:1.00:1.00:1.00:60:40.0:0:0:105:45:33:NM_001037533.1(GON4L) c.1162-132C>T,NM_001037533.1(GON4L) c.1162-132C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 1 155785578 rs375366111 CAACT C 87 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=CAACT/0.1374,C/0.8626;DB;DBA=NA;PAF=CAACT/0.1374,C/0.8626;NP=3298;Gene=GON4L/NM_001282858.1/0;CC=c.1161+14_1161+17delAGTT;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.1161+14_1161+17delAGTT;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.1161+14_1161+17delAGTT;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.1161+14_1161+17delAGTT;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.1161+14_1161+17delAGTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:CAACT,C:25:18:0:24:1,24:14,772:0.00,86.94:0.00,50.85:0.00,36.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.0,5.6:0,0:0,0:146,32:4,118:0,20:NM_001037533.1(GON4L) c.1161+14_1161+17delAGTT,NM_001037533.1(GON4L) c.1161+14_1161+17delAGTT:0.88,0.88:0.845447,0.845447 1 155785692 . C . . NT END=155786002;NT GT ./. 1 155786054 . C . . NT END=155790396;NT GT ./. 1 155790448 . C . . NT END=155791264;NT GT ./. 1 155791340 . C . . NT END=155792076;NT GT ./. 1 155792268 . C . . NT END=155796627;NT GT ./. 1 155796820 . C . . NT END=155823066;NT GT ./. 1 155797945 rs397717063 T TCACACA 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=668;PC=0.001;Gene=GON4L/NM_001282858.1/0;CC=c.506-1127_506-1126insTGTGTG;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.506-1127_506-1126insTGTGTG;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.506-1127_506-1126insTGTGTG;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.506-1127_506-1126insTGTGTG;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.506-1127_506-1126insTGTGTG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TCACACA:3:1:4:0:3:117:9.45:3.55:5.90:0.85:0.83:0.99:60:30.3:1:0:60:89:32:NM_001037533.1(GON4L) c.506-1127_506-1126insTGTGTG,NM_001037533.1(GON4L) c.506-1127_506-1126insTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 155822971 rs822490 C T 61 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5521,T/0.4479;Gene=GON4L/NM_001282858.1/0;CC=c.505+96G>A;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.505+96G>A;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.505+96G>A;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.505+96G>A;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.505+96G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:28:0:0:10,19:339,601:0.00,61.04:0.00,54.35:0.00,6.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,70.2:0,0:0,0:66,38:83,113:55,32:-,NM_001037533.1(GON4L) c.505+96G>A:-,0.43:-,NOT_FOUND 1 155823002 rs822491 T C 114 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=3465;Gene=GON4L/NM_001282858.1/0;CC=c.505+65A>G;VC=Intron;Gene=GON4L/NM_001282860.1/1;CC=c.505+65A>G;VC=Intron;Gene=GON4L/NM_001282856.1/0;CC=c.505+65A>G;VC=Intron;Gene=GON4L/NM_001282861.1/0;CC=c.505+65A>G;VC=Intron;Gene=GON4L/NM_032292.5/0;CC=c.505+65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A,C,G:32:29:0:0:1,30,1:11,1003,14:0.31,113.77,0.51:0.31,95.48,0.51:0.00,18.29,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:103.0,58.4,41.0:0,0,0:0,0,0:14,52,37:132,98,114:0,27,0:NM_001037533.1(GON4L) c.505+65A>G,NM_001037533.1(GON4L) c.505+65A>G:1,1:NOT_FOUND,NOT_FOUND 1 155823572 . T . . NT END=155829552;NT GT ./. 1 155829360 rs1749412 C A 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.07268,A/0.9273,G/.;PC=0.998;Gene=SYT11/NM_152280.4/1;CC=c.-193C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:315:36.66:36.66:0.00:1.00:1.00:0.00:60:39.1:0:0:35:116:8:NM_152280.4(SYT11) c.-193C>A,NM_152280.4(SYT11) c.-193C>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 155829511 rs3820594 C T 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.6512,T/0.3488;PC=0.033;Gene=SYT11/NM_152280.4/1;CC=c.-42C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:37:0:0:22,24:727,675:0.00,65.00:0.00,43.17:0.00,21.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,35.7:0,0:0,0:58,31:88,111:28,26:-,NM_152280.4(SYT11) c.-42C>T:-,0.4:-,0.260188 1 155829587 . G . . NT END=155837755;NT GT ./. 1 155837865 rs822522 G C 441 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.04533,C/0.9547;PC=0.994;Gene=SYT11/NM_152280.4/1;CC=c.144G>C;ProtCh=p.Q48H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:120:84:0:0:119,1:3871,25:441.18,0.00:239.18,0.00:202.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,249.0:0,0:0,0:78,84:68,67:36,0:NM_152280.4(SYT11) c.144G>C (p.Gln48His),NM_152280.4(SYT11) c.144G>C (p.Gln48His):0.96,0.96:0.95479,0.95479 1 155838267 rs822521 T C 693 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=188;DB;DBA=NA;PAF=T/0.06889,C/0.9311;PC=0.001;Gene=SYT11/NM_152280.4/1;CC=c.546T>C;ProtCh=p.H182=;VC=Silent;DM=SYT11/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:188:133:0:0:1,187:10,6049:0.05,693.31:0.05,370.62:0.00,322.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.0,36.4:0,0:0,0:97,73:54,71:0,30:NM_152280.4(SYT11) c.546T>C (p.(=)),NM_152280.4(SYT11) c.546T>C (p.(=)):0.94,0.94:0.925342,0.925342 1 155838583 . G . . NT END=155850290;NT GT ./. 1 155838796 rs822520 T C 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04513,C/0.9549;Gene=SYT11/NM_152280.4/1;CC=c.861+214T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:40.2:0:0:119:31:22:NM_152280.4(SYT11) c.861+214T>C,NM_152280.4(SYT11) c.861+214T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 155850415 . G . . NT END=155850988;NT GT ./. 1 155850558 rs822508 T C 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.5661,C/0.4339;Gene=SYT11/NM_152280.4/1;CC=c.985+144T>C;VC=Intron;DM=SYT11/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:0:0:0:18,10:543,340:54.96,0.00:0.00,0.00:54.96,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.4,4.2:0,0:0,0:118,116:31,33:22,27:NM_152280.4(SYT11) c.985+144T>C,-:0.42,-:NOT_FOUND,- 1 155850811 rs822509 G A 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5661,A/0.4339;PC=0.013;Gene=SYT11/NM_152280.4/1;CC=c.986-178G>A;VC=Intron;DM=SYT11/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:15:14:0:0:10,5:306,136:31.23,0.00:27.52,0.00:3.70,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:52.8,16.4:0,0:0,0:28,69:120,82:15,30:NM_152280.4(SYT11) c.986-178G>A,-:0.42,-:NOT_FOUND,- 1 155851300 . T . . NT END=155870178;NT GT ./. 1 155851325 rs188035474 C G 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.999,G/.,T/0.0009984;NP=1;NP=2;PC=0.002;Gene=SYT11/NM_152280.4/1;CC=c.*26C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:69:23:0:0:39,30:1093,908:0.00,84.62:0.00,26.12:0.00,58.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,36.6:0,0:0,0:91,97:54,52:32,24:-,NM_152280.4(SYT11) c.*26C>G:-,NOT_FOUND:-,NOT_FOUND 1 155870410 . C . . NT END=155874101;NT GT ./. 1 155870416 rs1749409 G A 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.2202,A/0.7798;PC=0.009;Gene=RIT1/NM_001256821.1/0;CC=c.481-7C>T;VC=Intron;Gene=RIT1/NM_001256820.1/0;CC=c.322-7C>T;VC=Intron;Gene=RIT1/NM_006912.5/1;CC=c.430-7C>T;VC=Intron;DM=RIT1/Ras;DM=RIT1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:18:0:0:24,32:803,1028:75.14,0.00:13.82,0.00:61.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,2.7:0,0:0,0:106,97:44,48:22,30:NM_001256821.1(RIT1) c.481-7C>T,-:0.8,-:0.793403,- 1 155873960 rs1765275 A G 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1498,G/0.8502;Gene=RIT1/NM_001256821.1/0;CC=c.480+142T>C;VC=Intron;Gene=RIT1/NM_001256820.1/0;CC=c.321+142T>C;VC=Intron;Gene=RIT1/NM_006912.5/1;CC=c.429+142T>C;VC=Intron;DM=RIT1/Ras;DM=RIT1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:12:12:0:0:5,7:169,214:0.00,21.17:0.00,21.17:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,41.7:0,0:0,0:89,72:62,78:7,32:-,NM_001256821.1(RIT1) c.480+142T>C:-,0.87:-,NOT_FOUND 1 155874294 . C . . NT END=155874521;NT GT ./. 1 155874596 . C . . NT END=155880240;NT GT ./. 1 155880298 . C . . NT END=155880446;NT GT ./. 1 155880573 rs493446 C G 215 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.22,G/0.78;PC=0.139;Gene=RIT1/NM_001256821.1/0;CC=c.31G>C;ProtCh=p.E11Q;VC=Missense;Gene=RIT1/NM_001256820.1/0;CC=c.-2-276G>C;VC=Intron;Gene=RIT1/NM_006912.5/1;CC=c.-21G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:121:83:0:0:53,68:1645,2190:0.00,215.36:0.00,117.73:0.00,97.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,39.3:0,0:0,0:81,64:55,77:33,35:-,NM_001256821.1(RIT1) c.31G>C (p.Glu11Gln):-,0.81:-,0.795248 1 155880596 . C . . NT END=155880668;NT GT ./. 1 155880677 . A . . NT END=155883911;NT GT ./. 1 155880760 rs79437610 C CA 89 nt VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.245,CA/0.755,CC/.,CCCA/.;NP=711;Gene=RIT1/NM_001256820.1/0;CC=c.-3+273_-3+274insT;VC=Intron;Gene=RIT1/NM_006912.5/1;CC=c.-43-166_-43-165insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:64:24:31:0:33,31:945,939:0.00,89.49:0.00,27.43:0.00,62.07:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.6,14.1:1,0:0,0:100,83:47,67:30,19:-,NM_001256821.1(RIT1) c.-30-u55_-30-u54insT:-,NOT_FOUND:-,NOT_FOUND 1 155884112 . C . . NT END=155885663;NT GT ./. 1 155885756 . C . . NT END=155886415;NT GT ./. 1 155886302 rs78579033 T C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9519,C/0.04812;Gene=KIAA0907/NM_014949.3/1;CC=c.1553+114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:C,T:9:9:0:0:5,4:169,132:16.60,0.00:16.60,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:35.8,10.8:0,0:0,0:84,38:67,112:27,12:NM_014949.2(KIAA0907) c.1553+114A>G,-:0.05,-:NOT_FOUND,- 1 155886529 . C . . NT END=155887289;NT GT ./. 1 155887464 . C . . NT END=155891165;NT GT ./. 1 155891045 rs625658 A C 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6004,C/0.3996;PC=0.002;Gene=KIAA0907/NM_014949.3/1;CC=c.1266+121T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:28:27:0:0:18,10:586,354:0.00,32.25:0.00,28.82:0.00,3.43:0.00,1.00:0.00,1.00:0.00,0.57:60,60:2.5,42.0:0,0:0,0:43,60:108,90:31,28:-,NM_014949.2(KIAA0907) c.1266+121T>G:-,0.39:-,NOT_FOUND 1 155891420 . C . . NT END=155891651;NT GT ./. 1 155891710 . C . . NT END=155893417;NT GT ./. 1 155891877 rs4020747 C CAG 21 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=498;PC=0.004;Gene=KIAA0907/NM_014949.3/1;CC=c.955-169_955-168insCT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:CAG:6:0:6:0:6:185:21.36:0.00:21.36:1.00:0.00:1.00:60:30.7:0:0:97:52:12:NM_014949.2(KIAA0907) c.955-169_955-168insCT,NM_014949.2(KIAA0907) c.955-169_955-168insCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 155893479 . C . . NT END=155895422;NT GT ./. 1 155895635 . C . . NT END=155896466;NT GT ./. 1 155896631 . C . . NT END=155896894;NT GT ./. 1 155896948 . C . . NT END=155899086;NT GT ./. 1 155899020 rs539602 A T 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.601,T/0.399;Gene=KIAA0907/NM_014949.3/1;CC=c.464+67T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:24:0:0:16,13:512,393:0.00,36.83:0.00,31.25:0.00,5.58:0.00,1.00:0.00,1.00:0.00,0.98:60,60:3.3,39.3:0,0:0,0:49,24:102,126:27,22:-,NM_014949.2(KIAA0907) c.464+67T>A:-,0.39:-,NOT_FOUND 1 155899167 . C . . NT END=155899502;NT GT ./. 1 155899632 . C . . NT END=155903423;NT GT ./. 1 155903310 rs4661150 T C 63 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.03734,C/0.9627;Gene=KIAA0907/NM_014949.3/1;CC=c.255+114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:17:0:0:18:540:62.51:58.83:3.68:1.00:1.00:1.00:60:45.3:0:0:64:87:39:NM_014949.2(KIAA0907) c.255+114A>G,NM_014949.2(KIAA0907) c.255+114A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 155903408 rs4661151 C T 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.601,T/0.399;Gene=KIAA0907/NM_014949.3/1;CC=c.255+16G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:45:0:0:25,23:812,778:0.00,74.33:0.00,57.60:0.00,16.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,44.6:0,0:0,0:37,48:108,97:28,20:-,NM_014949.2(KIAA0907) c.255+16G>A:-,0.39:-,0.511841 1 155903641 . C . . NT END=155904126;NT GT ./. 1 155904165 . G . . NT END=155911500;NT GT ./. 1 155904177 rs2275079 T C 138 nt VT=SNV;PN=C;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.2204,A/.,C/0.7796;PC=0.028;Gene=KIAA0907/NM_014949.3/1;CC=c.-13A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:100:68:0:0:44,56:1464,1890:137.58,0.00:51.95,0.00:85.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,1.9:0,0:0,0:86,79:53,63:20,21:NM_014949.2(KIAA0907) c.=,-:0.8,-:0.793507,- 1 155904392 rs2275081 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2202,A/0.7798 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,C,G:14:0:0:0:4,1,9:114,10,283:9.82,0.17,0.00:0.00,0.00,0.00:9.82,0.17,0.00:0.77,0.00,0.00:0.00,0.00,0.00:0.77,0.00,0.00:60,60,60:66.8,21.0,14.3:0,0,0:0,0,0:85,117,65:64,1,86:18,0,27:NM_014949.2(KIAA0907) c.-24-u204C>T,-:0.8,-:NOT_FOUND,- 1 155912486 rs2152051 T C 612 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=T/0.07588,C/0.9241;Gene=RXFP4/NM_181885.2/1;CC=c.986T>C;ProtCh=p.L329S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:172:110:0:0:1,171:12,5318:0.10,612.34:0.00,291.50:0.10,320.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:201.0,38.1:0,0:0,0:133,84:18,64:0,36:NM_181885.2(RXFP4) c.986T>C (p.Leu329Ser),NM_181885.2(RXFP4) c.986T>C (p.Leu329Ser):0.95,0.95:0.937096,0.937096 1 155912626 . A . . NT END=155917732;NT GT ./. 1 155917807 . C . . NT END=155920059;NT GT ./. 1 155917880 rs1010033 T A 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2268,A/0.7732;Gene=ARHGEF2/NM_004723.3/1;CC=c.2804-74A>T;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.2888-74A>T;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.2885-74A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:31:15:0:0:18,13:558,404:55.25,0.00:17.30,0.00:37.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,17.9:0,0:0,0:128,107:18,44:12,31:NM_001162383.1(ARHGEF2) c.2888-74A>T,-:0.8,-:NOT_FOUND,- 1 155920274 . C . . NT END=155920619;NT GT ./. 1 155921064 . C . . NT END=155921273;NT GT ./. 1 155921325 . C . . NT END=155921531;NT GT ./. 1 155921568 . C . . NT END=155921709;NT GT ./. 1 155921778 . C . . NT END=155921906;NT GT ./. 1 155922027 . C . . NT END=155922418;NT GT ./. 1 155922620 . C . . NT END=155924692;NT GT ./. 1 155924505 rs4661162 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2266,G/0.7734;Gene=ARHGEF2/NM_004723.3/1;CC=c.1699+188T>C;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.1783+188T>C;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.1780+188T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:9:9:0:0:6,3:193,101:0.00,9.04:0.00,9.04:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:6.2,53.0:0,0:0,0:65,54:85,96:35,27:-,NM_001162383.1(ARHGEF2) c.1783+188T>C:-,0.8:-,NOT_FOUND 1 155924761 . C . . NT END=155927503;NT GT ./. 1 155927193 rs12138833 C G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2198,G/0.7802;PC=0.003;Gene=ARHGEF2/NM_004723.3/1;CC=c.1631+311G>C;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.1715+311G>C;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.1712+311G>C;VC=Intron;DM=ARHGEF2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,G:4:4:0:0:2,2:47,68:0.00,6.56:0.00,6.56:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:59.5,39.5:0,0:0,0:67,19:82,131:21,6:-,NM_001162383.1(ARHGEF2) c.1715+311G>C:-,0.81:-,NOT_FOUND 1 155927212 rs12747344 T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9423,C/0.05771;Gene=ARHGEF2/NM_004723.3/1;CC=c.1631+292A>G;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.1715+292A>G;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.1712+292A>G;VC=Intron;DM=ARHGEF2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:C,T:4:4:0:0:2,2:68,42:6.57,0.00:6.57,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:59.5,39.5:0,0:0,0:86,38:63,112:21,6:NM_001162383.1(ARHGEF2) c.1715+292A>G,-:0.06,-:NOT_FOUND,- 1 155927674 . C . . NT END=155928110;NT GT ./. 1 155928188 . C . . NT END=155931451;NT GT ./. 1 155928232 rs2364404 T C 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.226,C/0.774;Gene=ARHGEF2/NM_004723.3/1;CC=c.1385-45A>G;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.1469-45A>G;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.1466-45A>G;VC=Intron;DM=ARHGEF2/PH_13;DM=ARHGEF2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:16:0:0:13,18:372,627:34.24,0.00:9.61,0.00:24.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.9,9.2:0,0:0,0:112,100:39,37:23,15:NM_001162383.1(ARHGEF2) c.1469-45A>G,-:0.8,-:0.787406,- 1 155928242 rs2886069 C T 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2196,T/0.7804;Gene=ARHGEF2/NM_004723.3/1;CC=c.1385-55G>A;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.1469-55G>A;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.1466-55G>A;VC=Intron;DM=ARHGEF2/PH_13;DM=ARHGEF2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:11:0:0:18,11:637,346:0.00,31.49:0.00,5.33:0.00,26.15:0.00,1.00:0.00,0.99:0.00,1.00:60,60:8.6,69.3:0,0:0,0:110,108:30,40:16,23:-,NM_001162383.1(ARHGEF2) c.1469-55G>A:-,0.81:-,0.80749 1 155931266 rs1964951 T C 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1344,C/0.8656;Gene=ARHGEF2/NM_004723.3/1;CC=c.1384+186A>G;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.1468+186A>G;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.1465+186A>G;VC=Intron;DM=ARHGEF2/PH_13;DM=ARHGEF2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:10,16:309,537:28.14,0.00:28.14,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.9,2.1:0,0:0,0:44,38:106,112:17,24:NM_001162383.1(ARHGEF2) c.1468+186A>G,-:0.88,-:NOT_FOUND,- 1 155931368 rs4661175 G A 91 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.6014,A/0.3986;PC=0.001;Gene=ARHGEF2/NM_004723.3/1;CC=c.1384+84C>T;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.1468+84C>T;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.1465+84C>T;VC=Intron;DM=ARHGEF2/PH_13;DM=ARHGEF2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:67:0:0:31,38:966,1278:90.77,0.00:81.74,0.00:9.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,5.0:0,0:0,0:35,49:116,102:26,35:NM_001162383.1(ARHGEF2) c.1468+84C>T,-:0.39,-:NOT_FOUND,- 1 155931701 . C . . NT END=155931895;NT GT ./. 1 155932014 . C . . NT END=155932383;NT GT ./. 1 155932510 . C . . NT END=155932723;NT GT ./. 1 155932975 . C . . NT END=155934778;NT GT ./. 1 155933002 rs35730001 T C 131 nt VT=SNV;PN=C;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.9523,C/0.04772;Gene=ARHGEF2/NM_004723.3/1;CC=c.641-28A>G;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.725-28A>G;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.722-28A>G;VC=Intron;DM=ARHGEF2/RhoGEF;DM=ARHGEF2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:95:44:0:0:2,45,48:22,1380,1605:0.05,131.44,0.00:-0.16,33.06,0.00:0.20,98.38,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:29.5,38.8,7.9:0,0,0:0,0,0:105,74,78:44,77,56:3,29,25:NM_001162383.1(ARHGEF2) c.725-28A>G,-:0.05,-:0.057512,- 1 155933135 rs397861740 CT C 21 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CT/0.3165,C/0.6835;DB;DBA=NA;PAF=NA;NP=12;PC=0.020;Gene=ARHGEF2/NM_004723.3/1;CC=c.641-162delA;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.725-162delA;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.722-162delA;VC=Intron;DM=ARHGEF2/RhoGEF;DM=ARHGEF2/RhoGEF;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:CT,I,C:12:0:1:11:4,1,7:108,30,332:0.00,2.16,20.74:0.00,0.00,0.00:0.00,2.16,20.74:0.00,0.00,0.98:0.00,0.00,0.00:0.00,0.00,0.98:60,60,60:21.2,77.0,33.3:0,0,4:0,0,0:117,44,79:18,106,71:14,0,19:-,NM_001162383.1(ARHGEF2) c.725-162delA:-,NOT_FOUND:-,NOT_FOUND 1 155934683 rs11295795 CA C 17 idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=CA/0.4567,C/0.5433;NP=119;Gene=ARHGEF2/NM_004723.3/1;CC=c.640+95delT;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.724+95delT;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.721+95delT;VC=Intron;DM=ARHGEF2/RhoGEF;DM=ARHGEF2/RhoGEF;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CA,I,C:38:40:6:12:25,6,7:716,193,313:0.00,15.44,17.25:0.00,15.51,17.33:0.00,-0.07,-0.08:0.00,0.00,0.94:0.00,0.00,1.00:0.00,0.00,0.45:60,60,70:21.0,4.0,58.9:0,0,3:0,0,0:91,69,29:60,81,121:50,34,20:-,NM_001162383.1(ARHGEF2) c.724+95delT:-,NOT_FOUND:-,NOT_FOUND 1 155934923 . C . . NT END=155935093;NT GT ./. 1 155935204 . C . . NT END=155935421;NT GT ./. 1 155935552 . C . . NT END=155936206;NT GT ./. 1 155936271 . C . . NT END=155936610;NT GT ./. 1 155936700 . G . . NT END=155938946;NT GT ./. 1 155939092 . C . . NT END=155939324;NT GT ./. 1 155939732 . T . . NT END=155939759;NT GT ./. 1 155940253 rs56298746 G A 138 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.9942,A/0.005791;NP=9;Gene=ARHGEF2/NM_004723.3/1;CC=c.-18-1162C>T;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.64-1162C>T;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.64-1162C>T;VC=Intron;DM=ARHGEF2/C1_1;DM=ARHGEF2/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:112:68:0:0:49,2,61:1477,25,1885:138.21,0.14,0.00:77.06,-0.24,0.00:61.15,0.38,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.8,12.5,8.0:0,0,0:0,0,0:76,122,62:61,28,81:33,9,33:NM_001162383.1(ARHGEF2) c.64-1162C>T,-:0.0037,-:NOT_FOUND,- 1 155940855 . c . . NT END=155947857;NT GT ./. 1 155940948 rs11264426 T G 384 nt VT=SNV;PN=C;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.5349,G/0.4651;Gene=ARHGEF2/NM_004723.3/1;CC=c.-18-1857A>C;VC=Intron;Gene=ARHGEF2/NM_001162383.1/0;CC=c.64-1857A>C;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.64-1857A>C;VC=Intron;DM=ARHGEF2/C1_1;DM=ARHGEF2/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:103:30:0:0:103:3346:383.61:71.28:312.34:1.00:1.00:1.00:60:39.1:0:0:105:44:30:NM_001162383.1(ARHGEF2) c.64-1857A>C,NM_001162383.1(ARHGEF2) c.64-1857A>C:0.46,0.46:NOT_FOUND,NOT_FOUND 1 155947875 rs928596 A G 369 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.5511,G/0.4489;Gene=ARHGEF2/NM_004723.3/1;CC=c.-36T>C;VC=5UTR;Gene=ARHGEF2/NM_001162383.1/0;CC=c.63+281T>C;VC=Intron;Gene=ARHGEF2/NM_001162384.1/0;CC=c.63+281T>C;VC=Intron;DM=ARHGEF2/C1_1;DM=ARHGEF2/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:103:91:0:0:1,102:14,3208:0.23,368.53:0.23,226.91:0.00,141.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:121.0,41.6:0,0:0,0:139,41:11,105:0,18:NM_001162383.1(ARHGEF2) c.63+281T>C,NM_001162383.1(ARHGEF2) c.63+281T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 1 155947977 . c . . NT END=155948155;NT GT ./. 1 155948390 . C . . NT END=155948703;NT GT ./. 1 155948438 rs74404550 C G 136 nt VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.9337,G/0.06629 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:83:35:0:0:38,44,1:1126,1395,10:0.00,136.02,-0.08:0.00,38.76,-0.06:0.00,97.26,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.6,37.4,10.0:0,0,0:0,0,0:106,95,98:43,55,53:23,33,0:-,NM_001162383.1(ARHGEF2) c.-118-u102G>C:-,0.07:-,NOT_FOUND 1 155948645 rs61813286 G C 250 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.5541,C/0.4459 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:57:0:0:71:2163:249.92:180.44:69.48:1.00:1.00:1.00:60:58.1:0:0:41:107:20:NM_001162383.1(ARHGEF2) c.-118-u309C>G,NM_001162383.1(ARHGEF2) c.-118-u309C>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 155949082 . A . . NT END=155952897;NT GT ./. 1 155952916 . G . . NT END=155979330;NT GT ./. 1 155979442 . C . . NT END=155981600;NT GT ./. 1 155981489 rs1475766 C G 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5831,G/0.4169;Gene=SSR2/NM_003145.3/1;CC=c.441+112G>C;VC=Intron;DM=SSR2/TRAP_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,G:13:12:0:0:5,8:143,283:0.00,28.36:0.00,28.78:0.00,-0.41:0.00,1.00:0.00,1.00:0.00,0.74:60,60:47.2,35.4:0,0:0,0:37,32:113,118:25,6:-,NM_003145.3(SSR2) c.441+112G>C:-,0.4:-,NOT_FOUND 1 155981679 . C . . NT END=155984751;NT GT ./. 1 155984861 . C . . NT END=155988060;NT GT ./. 1 155988160 . C . . NT END=155989803;NT GT ./. 1 155989959 . C . . NT END=156003021;NT GT ./. 1 156003068 . C . . NT END=156005091;NT GT ./. 1 156005431 rs56061854 C G 193 lc VT=SNV;PN=G;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=NA;NP=477;PC=0.006;Gene=UBQLN4/NM_001304342.1/1;CC=c.*1338G>C;VC=3UTR;Gene=UBQLN4/NM_020131.4/0;CC=c.*1338G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:120:77:0:0:55,65:1800,1985:0.00,193.44:0.00,93.47:0.00,99.97:0.00,1.00:0.00,1.00:0.00,1.00:49,49:13.1,41.5:0,0:0,0:92,87:59,60:38,42:-,NM_020131.3(UBQLN4) c.*1338G>C:-,NOT_FOUND:-,NOT_FOUND 1 156006330 rs71630611 G T 136 lc VT=SNV;PN=G;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.9135,T/0.08646;Gene=UBQLN4/NM_001304342.1/1;CC=c.*439C>A;VC=3UTR;Gene=UBQLN4/NM_020131.4/0;CC=c.*439C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:101:54:0:0:53,48:1637,1437:0.00,136.17:0.00,57.16:0.00,79.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.4,43.2:0,0:0,0:94,74:54,74:38,32:-,NM_020131.3(UBQLN4) c.*439C>A:-,0.08:-,NOT_FOUND 1 156006922 . C . . NT END=156011274;NT GT ./. 1 156007177 rs2095402 A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5671,G/0.4329;Gene=UBQLN4/NM_001304342.1/1;CC=c.1594-256T>C;VC=Intron;Gene=UBQLN4/NM_020131.4/0;CC=c.1654-256T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:10:0:0:0:7,3:169,102:0.00,9.00:0.00,0.00:0.00,9.00:0.00,0.62:0.00,0.00:0.00,0.62:60,60:23.3,37.7:0,0:0,0:100,137:51,14:13,12:-,NM_020131.3(UBQLN4) c.1654-256T>C:-,0.42:-,NOT_FOUND 1 156011336 rs62001917 G A 191 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.9976,A/0.002396;NP=61;PC=0.412;Gene=UBQLN4/NM_001304342.1/1;CC=c.1533C>T;ProtCh=p.S511=;VC=Silent;Gene=UBQLN4/NM_020131.4/0;CC=c.1593C>T;ProtCh=p.S531=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:91:0:0:61,59:1979,1857:190.94,0.00:130.04,0.00:60.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,21.3:0,0:0,0:74,72:75,67:40,31:NM_020131.3(UBQLN4) c.1593C>T (p.(=)),-:0.0041,-:0.006382,- 1 156011444 rs2297792 T C 131 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=T/0.5669,C/0.4331;PC=0.925;Gene=UBQLN4/NM_001304342.1/1;CC=c.1425A>G;ProtCh=p.I475M;VC=Missense;Gene=UBQLN4/NM_020131.4/0;CC=c.1485A>G;ProtCh=p.I495M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:110:52:0:0:45,65:1415,2085:130.60,0.00:34.65,0.00:95.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.7,15.0:0,0:0,0:89,92:62,56:32,36:NM_020131.3(UBQLN4) c.1485A>G (p.Ile495Met),-:0.42,-:0.553401,- 1 156011463 . C . . NT END=156011661;NT GT ./. 1 156011779 . C . . NT END=156011942;NT GT ./. 1 156012028 . C . . NT END=156012033;NT GT ./. 1 156012169 . C . . NT END=156012563;NT GT ./. 1 156012511 rs34224286 C T 108 nt VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.9483,T/0.05172;PC=0.002;Gene=UBQLN4/NM_001304342.1/1;CC=c.1206+54G>A;VC=Intron;Gene=UBQLN4/NM_020131.4/0;CC=c.1266+54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:77:66:0:0:41,1,35:1270,5,1144:0.00,-0.20,108.31:0.00,-0.15,80.36:0.00,-0.05,27.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.9,48.0,36.5:0,0,0:0,0,0:51,54,49:96,97,98:35,0,30:-,NM_020131.3(UBQLN4) c.1266+54G>A:-,0.06:-,NOT_FOUND 1 156012705 . C . . NT END=156013787;NT GT ./. 1 156013676 rs34673835 C T 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8826,T/0.1174;Gene=UBQLN4/NM_001304342.1/1;CC=c.1066+113G>A;VC=Intron;Gene=UBQLN4/NM_020131.4/0;CC=c.1126+113G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:17:0:0:8,9:274,271:0.00,26.26:0.00,26.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.5,40.4:0,0:0,0:18,58:132,93:9,9:-,NM_020131.3(UBQLN4) c.1126+113G>A:-,0.12:-,NOT_FOUND 1 156014015 . C . . NT END=156018290;NT GT ./. 1 156018451 . C . . NT END=156020080;NT GT ./. 1 156020345 . C . . NT END=156020899;NT GT ./. 1 156021119 . C . . NT END=156021495;NT GT ./. 1 156021649 . C . . NT END=156023383;NT GT ./. 1 156021891 rs10796957 C T 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.08107,T/0.9189;Gene=UBQLN4/NM_001304342.1/1;CC=c.109-243G>A;VC=Intron;Gene=UBQLN4/NM_020131.4/0;CC=c.109-243G>A;VC=Intron;DM=UBQLN4/ubiquitin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:249:28.71:0.00:28.71:1.00:0.00:1.00:60:52.9:0:0:132:18:14:NM_020131.3(UBQLN4) c.109-243G>A,NM_020131.3(UBQLN4) c.109-243G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 156023371 . G C 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;PC=0.004;Gene=UBQLN4/NM_001304342.1/1;CC=c.108+14C>G;VC=Intron;Gene=UBQLN4/NM_020131.4/0;CC=c.108+14C>G;VC=Intron;DM=UBQLN4/ubiquitin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,G:45:31:0:0:7,38:136,1102:8.63,0.00:9.98,0.00:-1.35,0.00:0.93,0.00:0.98,0.00:0.94,0.00:60,60:140.0,17.2:0,1:0,0:66,12:51,129:40,10:NM_020131.3(UBQLN4) c.108+14C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 156023493 . g . . NT END=156024680;NT GT ./. 1 156024373 rs3754293 A G 23 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6232,G/0.3768;PC=0.969 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:204:23.26:21.27:1.99:1.00:1.00:1.00:60:34.0:0:0:68:82:31:NM_014017.3(LAMTOR2) c.-164-u144A>G,NM_014017.3(LAMTOR2) c.-164-u144A>G:0.35,0.35:NOT_FOUND,NOT_FOUND 1 156024749 . G . . NT END=156025053;NT GT ./. 1 156025217 . G . . NT END=156027768;NT GT ./. 1 156027859 . G . . NT END=156028105;NT GT ./. 1 156028163 . C . . NT END=156031191;NT GT ./. 1 156031235 . G . . NT END=156035701;NT GT ./. 1 156035898 . G . . NT END=156038060;NT GT ./. 1 156038255 . G . . NT END=156039461;NT GT ./. 1 156038475 rs397862673 AT A,ATTT 11 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AT/0.5278,A/0.4722;DB;DBA=NA;PAF=NA;NP=1;PC=0.012;DM=RAB25/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:19:AT,ATTT,A:6:0:1:7:1,1,4:9,30,156:0.00,2.52,11.21:0.00,0.00,0.00:0.00,2.52,11.21:0.00,0.00,0.87:0.00,0.00,0.00:0.00,0.00,0.87:60,60,60:11.0,10.0,102.2:0,0,2:0,0,0:126,119,80:25,32,70:0,0,22:NM_020387.2(RAB25) c.433+222delT,NM_020387.2(RAB25) c.433+222T[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 156039543 . G . . NT END=156039950;NT GT ./. 1 156040079 . C . . NT END=156046364;NT GT ./. 1 156040310 rs2275075 A G 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4688,G/0.5312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:374:42.65:0.00:42.65:1.00:0.00:1.00:60:61.2:0:0:122:28:27:chr1 g.156040309A>G (intergenic),chr1 g.156040309A>G (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 156047474 . C . . NT END=156051335;NT GT ./. 1 156051790 . G . . NT END=156084709;NT GT ./. 1 156085066 . G . . NT END=156095950;NT GT ./. 1 156096015 . G . . NT END=156096526;NT GT ./. 1 156096707 . G . . NT END=156100407;NT GT ./. 1 156100565 . G . . NT END=156104193;NT GT ./. 1 156104292 rs12117552 G A 126 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=77;DB;DBA=in-clinvar;PAF=G/0.992,A/0.007987;NP=58;PC=1.000;Gene=LMNA/NM_001282625.1/0;CC=c.612G>A;ProtCh=p.L204=;VC=Silent;Gene=LMNA/NM_005572.3/1;CC=c.612G>A;ProtCh=p.L204=;VC=Silent;Gene=LMNA/NM_001282626.1/0;CC=c.612G>A;ProtCh=p.L204=;VC=Silent;Gene=LMNA/NM_170707.3/0;CC=c.612G>A;ProtCh=p.L204=;VC=Silent;Gene=LMNA/NM_170708.3/0;CC=c.612G>A;ProtCh=p.L204=;VC=Silent;Gene=LMNA/NM_001282624.1/0;CC=c.369G>A;ProtCh=p.L123=;VC=Silent;Gene=LMNA/NM_001257374.2/0;CC=c.276G>A;ProtCh=p.L92=;VC=Silent;DM=LMNA/Filament;DM=LMNA/Filament GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:54:0:0:39,38:1302,1227:125.64,0.00:60.82,0.00:64.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,17.2:0,0:0,0:76,82:70,66:33,31:NM_005572.3(LMNA) c.612G>A (p.(=)),-:0.0037,-:0.00569,- 1 156104320 . G . . NT END=156104595;NT GT ./. 1 156104767 . G . . NT END=156104977;NT GT ./. 1 156105104 . G . . NT END=156105691;NT GT ./. 1 156105913 . G . . NT END=156106004;NT GT ./. 1 156106228 . G . . NT END=156106711;NT GT ./. 1 156106820 . G . . NT END=156106903;NT GT ./. 1 156107024 . G . . NT END=156107444;NT GT ./. 1 156107658 . C . . NT END=156108278;NT GT ./. 1 156108549 . G . . NT END=156108870;NT GT ./. 1 156109094 rs200317083 CA C 26 idl,rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=30;PC=0.918;Gene=LMNA/NM_001282626.1/0;CC=c.*211delA;VC=3UTR;Gene=LMNA/NM_170707.3/0;CC=c.*211delA;VC=3UTR;Gene=LMNA/NM_170708.3/0;CC=c.*211delA;VC=3UTR;Gene=LMNA/NM_001257374.2/0;CC=c.1655+215delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,T,I,C:62:46:1:16:50,1,1,10:1482,7,31,451:0.00,-0.26,1.43,25.63:0.00,-0.15,1.61,17.14:0.00,-0.11,-0.18,8.49:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:25.4,113.0,70.0,27.8:1,0,0,4:0,0,0,0:66,126,26,67:79,12,121,83:34,0,0,27:-,NM_170707.3(LMNA) c.*198A[13]:-,NOT_FOUND:-,NOT_FOUND 1 156109631 . C . . NT END=156124369;NT GT ./. 1 156124509 . G . . NT END=156126204;NT GT ./. 1 156126367 . T . . NT END=156127860;NT GT ./. 1 156126536 rs71591930 CTT C 17 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=SEMA4A/NM_001193301.1/1;CC=c.300+186_300+187delTT;VC=Intron;Gene=SEMA4A/NM_001193300.1/0;CC=c.300+186_300+187delTT;VC=Intron;Gene=SEMA4A/NM_022367.3/0;CC=c.300+186_300+187delTT;VC=Intron;Gene=SEMA4A/NM_001193302.1/0;CC=c.3+186_3+187delTT;VC=Intron;DM=SEMA4A/Sema;DM=SEMA4A/Sema;DM=SEMA4A/Sema;DM=SEMA4A/Sema;DM=SEMA4A/Sema;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:CTT,C:14:0:0:8:8,6:217,228:0.00,16.89:0.00,0.00:0.00,16.89:0.00,0.95:0.00,0.00:0.00,0.95:60,70:19.1,24.2:0,2:0,0:117,80:33,69:26,15:-,NM_001193301.1(SEMA4A) c.300+172_300+173delTT:-,NOT_FOUND:-,NOT_FOUND 1 156127925 . T . . NT END=156128178;NT GT ./. 1 156128279 . T . . NT END=156128509;NT GT ./. 1 156128617 . T . . NT END=156130233;NT GT ./. 1 156130352 . T . . NT END=156130695;NT GT ./. 1 156130822 . T . . NT END=156131136;NT GT ./. 1 156131050 rs191795474 A T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.9006,T/0.09944;PC=0.058;Gene=SEMA4A/NM_001193301.1/1;CC=c.811-87A>T;VC=Intron;Gene=SEMA4A/NM_001193300.1/0;CC=c.811-87A>T;VC=Intron;Gene=SEMA4A/NM_022367.3/0;CC=c.811-87A>T;VC=Intron;Gene=SEMA4A/NM_001193302.1/0;CC=c.415-87A>T;VC=Intron;DM=SEMA4A/Sema;DM=SEMA4A/Sema;DM=SEMA4A/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:17:17:0:0:7,1,1,8:193,13,6,234:0.00,0.45,-0.02,22.67:0.00,0.45,-0.02,22.67:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00:60,60,60,60:49.3,37.0,119.0,54.9:0,0,0,0:0,0,0,0:19,136,132,34:132,15,19,117:14,0,0,24:-,NM_001193301.1(SEMA4A) c.811-87A>T:-,0.14:-,NOT_FOUND 1 156131095 rs201004039 C CGGGGCGG 76 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SEMA4A/NM_001193301.1/1;CC=c.811-36_811-35insGGGGGCG;VC=Intron;Gene=SEMA4A/NM_001193300.1/0;CC=c.811-36_811-35insGGGGGCG;VC=Intron;Gene=SEMA4A/NM_022367.3/0;CC=c.811-36_811-35insGGGGGCG;VC=Intron;Gene=SEMA4A/NM_001193302.1/0;CC=c.415-36_415-35insGGGGGCG;VC=Intron;DM=SEMA4A/Sema;DM=SEMA4A/Sema;DM=SEMA4A/Sema;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,CGGGGCGG:27:27:23:1:4,23:112,699:0.00,76.00:0.00,76.00:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:84.0,47.7:1,0:0,0:71,41:53,105:45,17:-,NM_001193301.1(SEMA4A) c.811-42_811-41insGGGGCGG:-,0.91:-,0.695499 1 156131311 . T . . NT END=156132734;NT GT ./. 1 156131617 rs1984508 A G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4307,G/0.5693;Gene=SEMA4A/NM_001193301.1/1;CC=c.983+308A>G;VC=Intron;Gene=SEMA4A/NM_001193300.1/0;CC=c.983+308A>G;VC=Intron;Gene=SEMA4A/NM_022367.3/0;CC=c.983+308A>G;VC=Intron;Gene=SEMA4A/NM_001193302.1/0;CC=c.587+308A>G;VC=Intron;DM=SEMA4A/Sema;DM=SEMA4A/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:131:15.01:3.38:11.63:1.00:1.00:1.00:60:32.8:0:0:103:47:12:NM_001193301.1(SEMA4A) c.983+308A>G,NM_001193301.1(SEMA4A) c.983+308A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 156132887 . T . . NT END=156142616;NT GT ./. 1 156132909 rs143862668 GCA G 90 nt VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=GCA/0.8762,G/0.1238;NP=1218;Gene=SEMA4A/NM_001193301.1/1;CC=c.1134+27_1134+28delCA;VC=Intron;Gene=SEMA4A/NM_001193300.1/0;CC=c.1134+27_1134+28delCA;VC=Intron;Gene=SEMA4A/NM_022367.3/0;CC=c.1134+27_1134+28delCA;VC=Intron;Gene=SEMA4A/NM_001193302.1/0;CC=c.738+27_738+28delCA;VC=Intron;DM=SEMA4A/Sema;DM=SEMA4A/Sema;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCA,G:77:30:0:30:47,30:1526,976:0.00,89.58:0.00,29.26:0.00,60.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,7.4:0,0:0,0:105,91:43,60:24,23:-,NM_001193301.1(SEMA4A) c.1134+25_1134+26delCA:-,NOT_FOUND:-,0.196406 1 156133038 rs7555253 T C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.5631,C/0.4369;Gene=SEMA4A/NM_001193301.1/1;CC=c.1134+153T>C;VC=Intron;Gene=SEMA4A/NM_001193300.1/0;CC=c.1134+153T>C;VC=Intron;Gene=SEMA4A/NM_022367.3/0;CC=c.1134+153T>C;VC=Intron;Gene=SEMA4A/NM_001193302.1/0;CC=c.738+153T>C;VC=Intron;DM=SEMA4A/Sema;DM=SEMA4A/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:0:0:0:12,13:390,414:37.18,0.00:0.00,0.00:37.18,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.2,6.6:0,0:0,0:107,120:43,31:18,26:NM_001193301.1(SEMA4A) c.1134+153T>C,-:0.42,-:NOT_FOUND,- 1 156142799 . T . . NT END=156144612;NT GT ./. 1 156144733 . T . . NT END=156144876;NT GT ./. 1 156145036 . T . . NT END=156145346;NT GT ./. 1 156145449 . T . . NT END=156146195;NT GT ./. 1 156146218 rs12401573 C T 284 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.5691,T/0.4309;PC=0.723;Gene=SEMA4A/NM_001193301.1/1;CC=c.1716C>T;ProtCh=p.P572=;VC=Silent;Gene=SEMA4A/NM_001193300.1/0;CC=c.1716C>T;ProtCh=p.P572=;VC=Silent;Gene=SEMA4A/NM_022367.3/0;CC=c.1716C>T;ProtCh=p.P572=;VC=Silent;Gene=SEMA4A/NM_001193302.1/0;CC=c.1320C>T;ProtCh=p.P440=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:68:0:0:74:2486:283.83:228.36:55.47:1.00:1.00:1.00:60:43.9:0:0:53:96:28:NM_001193301.1(SEMA4A) c.1716C>T (p.(=)),NM_001193301.1(SEMA4A) c.1716C>T (p.(=)):0.45,0.45:0.531755,0.531755 1 156146790 . C . . NT END=156169638;NT GT ./. 1 156148904 rs66508044 CTGTGTGTGTGTG C,CTGTGTGTGTGTGTG 9 sb;idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=31;PC=0.080 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:28:CTGTGTGTGTGTGTG,C:4:3:1:4:1,3:34,119:3.18,9.26:3.18,1.48:0.00,7.79:0.00,0.78:0.00,0.94:0.00,0.94:60,60:0.0,6.0:0,1:0,0:75,44:74,106:0,15:chr1 g.156148905_156148916delTGTGTGTGTGTG (intergenic),chr1 g.156148915_156148916dupTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 156169610 rs2072499 A G 204 nt VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.618,G/0.382;Gene=SLC25A44/NM_001286184.1/1;CC=c.-13-16A>G;VC=Intron;Gene=SLC25A44/NM_014655.3/0;CC=c.-13-16A>G;VC=Intron;Gene=SLC25A44/NR_104408.1/0;VC=NonCoding;Gene=SLC25A44/NR_104411.1/0;VC=NonCoding;Gene=SLC25A44/NR_104412.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:A,G:54:49:0:0:1,53:10,1808:0.00,204.34:0.00,167.97:0.00,36.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,39.8:0,0:0,0:144,49:7,100:0,28:NM_014655.2(SLC25A44) c.-13-16A>G,NM_014655.2(SLC25A44) c.-13-16A>G:0.37,0.37:0.441642,0.441642 1 156170264 . G . . NT END=156177652;NT GT ./. 1 156177805 . G . . NT END=156180030;NT GT ./. 1 156180223 . C . . NT END=156182806;NT GT ./. 1 156182710 rs2241107 T C 365 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.6182,C/0.3818 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:102:97:0:0:102:3169:365.41:305.10:60.32:1.00:1.00:1.00:60:46.2:0:0:41:109:22:NM_001199654.1(PMF1) c.-28-u69T>C,NM_001199654.1(PMF1) c.-28-u69T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 156182968 . G . . NT END=156195347;NT GT ./. 1 156195205 rs2758600 C T 39 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7546,T/0.2454;PC=0.196;Gene=PMF1/NM_001199653.1/0;CC=c.162-6906C>T;VC=Intron;Gene=PMF1/NM_001199654.1/1;CC=c.162-143C>T;VC=Intron;Gene=PMF1/NM_007221.3/0;CC=c.162-6906C>T;VC=Intron;Gene=PMF1-BGLAP/NM_001199661.1/0;CC=c.162-6906C>T;VC=Intron;Gene=PMF1-BGLAP/NM_001199662.1/1;CC=c.162-6906C>T;VC=Intron;Gene=PMF1-BGLAP/NM_001199663.1/0;CC=c.162-6906C>T;VC=Intron;Gene=PMF1-BGLAP/NM_001199664.1/0;CC=c.162-10874C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:335:38.72:36.78:1.94:1.00:1.00:1.00:60:76.5:0:0:52:99:19:NM_001199654.1(PMF1) c.162-143C>T,NM_001199654.1(PMF1) c.162-143C>T:0.25,0.25:NOT_FOUND,NOT_FOUND 1 156195460 . G . . NT END=156202110;NT GT ./. 1 156202173 rs1052053 A G 405 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=NA;PC=0.577;Gene=PMF1/NM_001199653.1/0;CC=c.224A>G;ProtCh=p.Q75R;VC=Missense;Gene=PMF1/NM_001199654.1/1;CC=c.274-1246A>G;VC=Intron;Gene=PMF1/NM_007221.3/0;CC=c.224A>G;ProtCh=p.Q75R;VC=Missense;Gene=PMF1-BGLAP/NM_001199661.1/0;CC=c.224A>G;ProtCh=p.Q75R;VC=Missense;Gene=PMF1-BGLAP/NM_001199662.1/1;CC=c.224A>G;ProtCh=p.Q75R;VC=Missense;Gene=PMF1-BGLAP/NM_001199663.1/0;CC=c.224A>G;ProtCh=p.Q75R;VC=Missense;Gene=PMF1-BGLAP/NM_001199664.1/0;CC=c.162-3906A>G;VC=Intron;DM=PMF1/GVQW;DM=PMF1-BGLAP/Nnf1;DM=PMF1/Nnf1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:110:72:0:0:1,109:12,3550:0.00,404.96:0.00,175.64:0.00,229.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.0,38.0:0,0:0,0:122,88:29,54:0,24:NM_001199661.1(PMF1-BGLAP) c.224A>G (p.Gln75Arg),NM_001199661.1(PMF1-BGLAP) c.224A>G (p.Gln75Arg):0.44,0.44:0.469399,0.469399 1 156202217 . G . . NT END=156203418;NT GT ./. 1 156203520 . G . . NT END=156206078;NT GT ./. 1 156206121 rs1052067 G A 372 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=250;DB;DBA=NA;PAF=G/0.8063,A/0.1937;PC=0.997;Gene=PMF1/NM_001199653.1/0;CC=c.369-19G>A;VC=Intron;Gene=PMF1/NM_001199654.1/1;CC=c.417G>A;ProtCh=p.M139I;VC=Missense;Gene=PMF1/NM_007221.3/0;CC=c.411G>A;ProtCh=p.M137I;VC=Missense;Gene=PMF1-BGLAP/NM_001199661.1/0;CC=c.369-19G>A;VC=Intron;Gene=PMF1-BGLAP/NM_001199662.1/1;CC=c.411G>A;ProtCh=p.M137I;VC=Missense;Gene=PMF1-BGLAP/NM_001199663.1/0;CC=c.368+2602G>A;VC=Intron;Gene=PMF1-BGLAP/NM_001199664.1/0;CC=c.204G>A;ProtCh=p.M68I;VC=Missense;DM=PMF1-BGLAP/Nnf1;DM=PMF1/Nnf1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:250:196:0:0:122,128:3888,4194:371.66,0.00:249.05,0.00:122.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,6.4:0,0:0,0:64,76:84,69:32,32:NM_001199654.1(PMF1) c.417G>A (p.Met139Ile),-:0.21,-:0.236506,- 1 156206275 . G . . NT END=156209338;NT GT ./. 1 156209393 . G . . NT END=156212022;NT GT ./. 1 156212087 . G . . NT END=156212343;NT GT ./. 1 156212383 . G . . NT END=156212552;NT GT ./. 1 156212623 . G . . NT END=156212823;NT GT ./. 1 156212875 . G . . NT END=156213651;NT GT ./. 1 156213257 rs759330 G A 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=in-clinvar;PAF=G/0.227,A/0.773;PC=0.004;Gene=PAQR6/NM_001272104.1/0;CC=c.*663C>T;VC=3UTR;Gene=PAQR6/NM_001272105.1/1;CC=c.*663C>T;VC=3UTR;Gene=PAQR6/NM_001272106.1/0;CC=c.*395C>T;VC=3UTR;Gene=PAQR6/NM_001272107.1/0;CC=c.*663C>T;VC=3UTR;Gene=PAQR6/NM_001272108.1/0;CC=c.*663C>T;VC=3UTR;Gene=PAQR6/NM_001272109.1/0;CC=c.*395C>T;VC=3UTR;Gene=PAQR6/NM_001272110.1/0;CC=c.*395C>T;VC=3UTR;Gene=PAQR6/NM_001272111.1/0;CC=c.*395C>T;VC=3UTR;Gene=PAQR6/NM_001272112.1/0;CC=c.*395C>T;VC=3UTR;Gene=PAQR6/NM_001272113.1/0;CC=c.*395C>T;VC=3UTR;Gene=PAQR6/NM_024897.3/0;CC=c.*395C>T;VC=3UTR;Gene=PAQR6/NM_198406.2/0;CC=c.*663C>T;VC=3UTR;Gene=PAQR6/NR_073610.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:2:0:0:12:332:38.88:4.01:34.86:1.00:1.00:1.00:60:54.7:0:0:115:34:14:NM_024897.2(PAQR6) c.=,NM_024897.2(PAQR6) c.=:0.75,0.75:NOT_FOUND,NOT_FOUND 1 156213921 rs7513351 C T 238 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.7808,T/0.2192;PC=0.958;Gene=PAQR6/NM_001272104.1/0;CC=c.1034G>A;ProtCh=p.*345=;VC=Silent;Gene=PAQR6/NM_001272105.1/1;CC=c.1025G>A;ProtCh=p.*342=;VC=Silent;Gene=PAQR6/NM_001272106.1/0;CC=c.583G>A;ProtCh=p.E195K;VC=Missense;Gene=PAQR6/NM_001272107.1/0;CC=c.716G>A;ProtCh=p.*239=;VC=Silent;Gene=PAQR6/NM_001272108.1/0;CC=c.701G>A;ProtCh=p.*234=;VC=Silent;Gene=PAQR6/NM_001272109.1/0;CC=c.367G>A;ProtCh=p.E123K;VC=Missense;Gene=PAQR6/NM_001272110.1/0;CC=c.367G>A;ProtCh=p.E123K;VC=Missense;Gene=PAQR6/NM_001272111.1/0;CC=c.367G>A;ProtCh=p.E123K;VC=Missense;Gene=PAQR6/NM_001272112.1/0;CC=c.367G>A;ProtCh=p.E123K;VC=Missense;Gene=PAQR6/NM_001272113.1/0;CC=c.367G>A;ProtCh=p.E123K;VC=Missense;Gene=PAQR6/NM_024897.3/0;CC=c.787G>A;ProtCh=p.E263K;VC=Missense;Gene=PAQR6/NM_198406.2/0;CC=c.1034G>A;ProtCh=p.*345=;VC=Silent;Gene=PAQR6/NR_073610.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:142:88:0:0:65,77:2174,2438:0.00,237.98:0.00,105.82:0.00,132.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,36.9:0,0:0,0:70,75:79,70:43,28:-,NM_024897.2(PAQR6) c.787G>A (p.Glu263Lys):-,0.2:-,0.16231 1 156214195 . C . . NT END=156214480;NT GT ./. 1 156214703 . C . . NT END=156214932;NT GT ./. 1 156215030 . C . . NT END=156215325;NT GT ./. 1 156215453 . C . . NT END=156215572;NT GT ./. 1 156215899 rs2075165 G A 518 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=G/0.5202,A/0.4798;Gene=PAQR6/NM_001272104.1/0;CC=c.179+15C>T;VC=Intron;Gene=PAQR6/NM_001272105.1/1;CC=c.170+15C>T;VC=Intron;Gene=PAQR6/NM_001272106.1/0;CC=c.-342C>T;VC=5UTR;Gene=PAQR6/NM_001272107.1/0;CC=c.-260C>T;VC=5UTR;Gene=PAQR6/NM_001272108.1/0;CC=c.179+15C>T;VC=Intron;Gene=PAQR6/NM_001272109.1/0;CC=c.-482C>T;VC=5UTR;Gene=PAQR6/NM_001272110.1/0;CC=c.-362+15C>T;VC=Intron;Gene=PAQR6/NM_001272111.1/0;CC=c.-362+15C>T;VC=Intron;Gene=PAQR6/NM_001272112.1/0;CC=c.-265+15C>T;VC=Intron;Gene=PAQR6/NM_001272113.1/0;CC=c.-59+15C>T;VC=Intron;Gene=PAQR6/NM_024897.3/0;CC=c.-260C>T;VC=5UTR;Gene=PAQR6/NM_198406.2/0;CC=c.179+15C>T;VC=Intron;Gene=PAQR6/NR_073610.1/0;VC=NonCoding;DM=PAQR6/HlyIII GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:142:64:0:0:141,1:4517,6:518.24,0.02:159.85,0.00:358.39,0.02:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,37.0:0,0:0,0:101,42:49,89:31,0:NM_024897.2(PAQR6) c.=,NM_024897.2(PAQR6) c.=:0.47,0.47:0.473781,0.473781 1 156216042 . C . . NT END=156216471;NT GT ./. 1 156216523 . G . . NT END=156220377;NT GT ./. 1 156220462 . C . . NT END=156220648;NT GT ./. 1 156220788 . C . . NT END=156221193;NT GT ./. 1 156221269 . C . . NT END=156222204;NT GT ./. 1 156222296 . C . . NT END=156222709;NT GT ./. 1 156222870 . C . . NT END=156223239;NT GT ./. 1 156223056 rs75854315 G A 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.978,A/0.02196;Gene=SMG5/NM_015327.2/1;CC=c.2502+184C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:4:0:0:7,7:228,234:21.92,0.00:2.57,0.00:19.35,0.00:0.99,0.00:0.51,0.00:0.95,0.00:60,60:36.1,3.1:0,0:0,0:41,130:110,21:15,10:NM_015327.2(SMG5) c.2502+184C>T,-:0.03,-:NOT_FOUND,- 1 156223300 . C . . NT END=156228795;NT GT ./. 1 156228955 . C . . NT END=156230241;NT GT ./. 1 156230141 rs2287025 T A 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7336,A/0.2664;Gene=SMG5/NM_015327.2/1;CC=c.2283+101A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:21:0:0:21:679:77.88:77.88:0.00:1.00:1.00:0.00:60:67.6:0:0:58:93:30:NM_015327.2(SMG5) c.2283+101A>T,NM_015327.2(SMG5) c.2283+101A>T:0.24,0.24:NOT_FOUND,NOT_FOUND 1 156230206 rs2287024 C A 191 nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.7336,A/0.2664;Gene=SMG5/NM_015327.2/1;CC=c.2283+36G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A:53:49:0:0:53:1655:190.68:157.55:33.13:1.00:1.00:1.00:60:47.6:0:0:38:109:23:NM_015327.2(SMG5) c.2283+36G>T,NM_015327.2(SMG5) c.2283+36G>T:0.24,0.24:0.225973,0.225973 1 156230418 . C . . NT END=156231123;NT GT ./. 1 156230605 rs7533548 C G 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.747,G/0.253;Gene=SMG5/NM_015327.2/1;CC=c.2108-188G>C;VC=Intron;DM=SMG5/EST1_DNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,G:10:0:0:0:1,9:8,282:0.40,32.05:0.00,0.00:0.40,32.05:0.00,1.00:0.00,0.00:0.00,1.00:60,60:79.0,45.1:0,0:0,0:54,124:97,27:0,24:NM_015327.2(SMG5) c.2108-188G>C,NM_015327.2(SMG5) c.2108-188G>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 156230936 rs759329 A G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5178,G/0.4822;PC=0.003;Gene=SMG5/NM_015327.2/1;CC=c.2107+188T>C;VC=Intron;DM=SMG5/EST1_DNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:185:21.34:21.34:0.00:1.00:1.00:0.00:60:34.7:0:0:32:119:25:NM_015327.2(SMG5) c.2107+188T>C,NM_015327.2(SMG5) c.2107+188T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 1 156231200 . C . . NT END=156233185;NT GT ./. 1 156231266 rs759328 G C 96 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7338,C/0.2662;Gene=SMG5/NM_015327.2/1;CC=c.2032-67C>G;VC=Intron;DM=SMG5/EST1_DNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:5:0:0:26:836:95.96:12.03:83.92:1.00:1.00:1.00:60:41.7:0:0:107:43:17:NM_015327.2(SMG5) c.2032-67C>G,NM_015327.2(SMG5) c.2032-67C>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 156233362 . C . . NT END=156235571;NT GT ./. 1 156233479 rs4661036 T C 117 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.7452,C/0.2548;Gene=SMG5/NM_015327.2/1;CC=c.1856-118A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:3:0:0:31:1023:117.08:9.34:107.73:1.00:1.00:1.00:60:36.1:0:0:115:36:31:NM_015327.2(SMG5) c.1856-118A>G,NM_015327.2(SMG5) c.1856-118A>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 156236172 . C . . NT END=156236331;NT GT ./. 1 156236470 . C . . NT END=156237260;NT GT ./. 1 156236592 rs370875877 CT C 50 idl,rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=CT/0.6258,C/0.3742;NP=5;PC=0.029;Gene=SMG5/NM_015327.2/1;CC=c.1118-124delA;VC=Intron;DM=SMG5/EST1_DNA_bind;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:34:2:2:21:15,2,17:471,64,637:0.00,4.45,50.00:0.00,-0.01,1.59:0.00,4.46,48.42:0.00,0.00,1.00:0.00,0.00,0.75:0.00,0.00,1.00:60,60,70:14.6,41.5,40.3:0,0,4:0,0,0:136,61,99:13,80,51:11,20,28:-,NM_015327.2(SMG5) c.1118-124delA:-,NOT_FOUND:-,NOT_FOUND 1 156236674 rs2758614 T C 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2246,C/0.7754;Gene=SMG5/NM_015327.2/1;CC=c.1118-205A>G;VC=Intron;DM=SMG5/EST1_DNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:377:43.87:0.00:43.87:1.00:0.00:1.00:70:40.6:0:0:105:46:23:NM_015327.2(SMG5) c.1118-205A>G,NM_015327.2(SMG5) c.1118-205A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 156237470 . C . . NT END=156237905;NT GT ./. 1 156237975 . C . . NT END=156238080;NT GT ./. 1 156238207 . C . . NT END=156242110;NT GT ./. 1 156238479 rs4661037 C T 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7442,T/0.2558;Gene=SMG5/NM_015327.2/1;CC=c.714-273G>A;VC=Intron;DM=SMG5/EST1_DNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:246:28.41:0.00:28.41:1.00:0.00:1.00:60:32.1:0:0:124:25:24:NM_015327.2(SMG5) c.714-273G>A,NM_015327.2(SMG5) c.714-273G>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 156242190 . C . . NT END=156243151;NT GT ./. 1 156243242 . C . . NT END=156244387;NT GT ./. 1 156244478 . C . . NT END=156246875;NT GT ./. 1 156246728 rs2277872 T G 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7508,G/0.2492;PC=0.001;Gene=SMG5/NM_015327.2/1;CC=c.454+148A>C;VC=Intron;DM=SMG5/EST1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:22:0:0:22:734:83.86:83.86:0.00:1.00:1.00:0.00:60:37.0:0:0:44:105:27:NM_015327.2(SMG5) c.454+148A>C,NM_015327.2(SMG5) c.454+148A>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 156247033 . C . . NT END=156247715;NT GT ./. 1 156247665 rs114416960 C T 78 nt VT=SNV;PN=G;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.9942,T/0.005791;Gene=SMG5/NM_015327.2/1;CC=c.297+51G>A;VC=Intron;DM=SMG5/EST1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:61:54:0:0:1,33,27:11,1093,831:-0.04,0.00,78.04:0.02,0.00,51.00:-0.06,0.00,27.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:99.0,5.7,39.6:0,0,0:0,0,0:119,52,39:31,97,109:0,33,19:-,NM_015327.2(SMG5) c.297+51G>A:-,0.01:-,0.014301 1 156247840 . C . . NT END=156248726;NT GT ./. 1 156248826 . C . . NT END=156252397;NT GT ./. 1 156252472 . G . . NT END=156255017;NT GT ./. 1 156255775 . G . . NT END=156256050;NT GT ./. 1 156255833 rs2842883 G C 302 nt VT=SNV;PN=G;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.02196,C/0.978;Gene=TMEM79/NR_026678.1/0;VC=NonCoding;Gene=TMEM79/NM_032323.2/1;CC=c.757+59G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:28:0:0:83:2622:301.66:79.22:222.43:1.00:1.00:1.00:60:39.4:0:0:92:54:29:NM_032323.2(TMEM79) c.757+59G>C,NM_032323.2(TMEM79) c.757+59G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 156256265 . G . . NT END=156261175;NT GT ./. 1 156261390 . G . . NT END=156262802;NT GT ./. 1 156261491 rs3795728 G C 80 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7514,C/0.2486;Gene=TMEM79/NR_026678.1/0;VC=NonCoding;Gene=TMEM79/NM_032323.2/1;CC=c.*102G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C,G:26:1:0:0:24,2:717,18:80.47,0.00:1.82,0.00:78.65,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:40.3,12.0:0,0:0,0:115,33:36,116:26,5:NM_032323.2(TMEM79) c.*102G>C,NM_032323.2(TMEM79) c.*102G>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 156263001 . C . . NT END=156263110;NT GT ./. 1 156263368 . C . . NT END=156263393;NT GT ./. 1 156263502 . c . . NT END=156263808;NT GT ./. 1 156264028 . C . . NT END=156264155;NT GT ./. 1 156264357 . C . . NT END=156264466;NT GT ./. 1 156264808 . C . . NT END=156265087;NT GT ./. 1 156265437 . A . . NT END=156268560;NT GT ./. 1 156268330 rs7523827 C G,T 17 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7512,G/0.2488,T/.;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:16:G,T:7:7:0:0:6,1:150,27:17.30,2.33:15.44,2.33:1.85,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:45.5,97.0:0,0:0,0:74,50:76,72:41,0:NM_144580.2(C1orf85) c.-44-u2850G>C,NM_144580.2(C1orf85) c.-44-u2850G>A:0.23,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 156268981 . T . . NT END=156278989;NT GT ./. 1 156269113 rs78320178 G A 128 nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.9892,A/0.01078;PC=0.001;Gene=VHLL/NM_001004319.2/1;CC=c.-133C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:1:0:0:41,21:1261,619:128.40,0.00:-0.43,0.00:128.84,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:42.3,22.9:0,0:0,0:103,109:47,42:25,24:NM_001004319.2(VHLL) c.-133C>T,-:0.02,-:NOT_FOUND,- 1 156279095 . C . . NT END=156280348;NT GT ./. 1 156279210 rs3001784 T C 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2942;PC=0.021;Gene=CCT3/NM_001008800.2/0;CC=c.1420-116A>G;VC=Intron;Gene=CCT3/NM_005998.4/1;CC=c.1534-116A>G;VC=Intron;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:255:29.31:0.00:29.31:1.00:0.00:1.00:60:45.4:0:0:76:75:35:NM_005998.4(CCT3) c.1534-116A>G,NM_005998.4(CCT3) c.1534-116A>G:1,1:NOT_FOUND,NOT_FOUND 1 156280481 . C . . NT END=156280740;NT GT ./. 1 156280987 . C . . NT END=156281831;NT GT ./. 1 156282013 . C . . NT END=156286956;NT GT ./. 1 156282224 rs2985711 A G 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2163,G/0.7837;PC=0.002;Gene=CCT3/NM_001008800.2/0;CC=c.861-212T>C;VC=Intron;Gene=CCT3/NM_005998.4/1;CC=c.975-212T>C;VC=Intron;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:1:0:0:9:308:35.09:2.04:33.05:1.00:1.00:1.00:60:38.8:0:0:61:89:6:NM_005998.4(CCT3) c.975-212T>C,NM_005998.4(CCT3) c.975-212T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 156287039 . C . . NT END=156287205;NT GT ./. 1 156287339 . C . . NT END=156288658;NT GT ./. 1 156287403 rs2296374 T C 216 nt VT=SNV;PN=A;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.5445,C/0.4555;Gene=CCT3/NM_001008800.2/0;CC=c.646-65A>G;VC=Intron;Gene=CCT3/NM_005998.4/1;CC=c.760-65A>G;VC=Intron;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C:57:14:0:0:57:1885:215.61:27.89:187.72:1.00:1.00:1.00:60:39.6:0:0:97:40:30:NM_005998.4(CCT3) c.760-65A>G,NM_005998.4(CCT3) c.760-65A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 156287503 . C CT 9 rn VT=INS;SST=Single;DP=11;PC=0.001;Gene=CCT3/NM_001008800.2/0;CC=c.646-166_646-165insA;VC=Intron;Gene=CCT3/NM_005998.4/1;CC=c.760-166_760-165insA;VC=Intron;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,CT,D:10:0:3:3:5,3,2:170,95,90:0.00,8.55,4.64:0.00,0.00,0.00:0.00,8.55,4.64:0.00,0.60,0.00:0.00,0.00,0.00:0.00,0.60,0.00:60,60,60:22.6,20.0,56.5:0,0,1:0,0,0:116,126,20:35,25,131:29,3,3:-,NM_005998.4(CCT3) c.760-166_760-165insA:-,NOT_FOUND:-,NOT_FOUND 1 156288809 . C . . NT END=156290629;NT GT ./. 1 156288906 rs371602601 G GT 21 rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=8;Gene=CCT3/NM_001008800.2/0;CC=c.496-99_496-98insA;VC=Intron;Gene=CCT3/NM_005998.4/1;CC=c.610-99_610-98insA;VC=Intron;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:G,T,GT,D:33:8:8:3:21,1,8,3:607,10,245,97:0.00,-0.03,20.87,7.14:0.00,-0.07,0.72,-0.23:0.00,0.05,20.15,7.37:0.00,0.00,0.98,0.00:0.00,0.00,0.86,0.00:0.00,0.00,1.00,0.00:60,58,60,60:21.4,91.0,11.1,21.0:0,0,0,0:0,0,0,0:124,39,68,85:25,96,81,66:16,0,25,24:-,NM_005998.4(CCT3) c.610-99_610-98insA:-,NOT_FOUND:-,NOT_FOUND 1 156290656 rs11548200 T C 69 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.9792,C/0.02077;PC=1.000;Gene=CCT3/NM_001008800.2/0;CC=c.469A>G;ProtCh=p.I157V;VC=Missense;Gene=CCT3/NM_005998.4/1;CC=c.583A>G;ProtCh=p.I195V;VC=Missense;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:37:0:0:22,21:714,717:68.95,0.00:45.18,0.00:23.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,1.6:0,0:0,0:38,64:105,85:23,27:NM_005998.4(CCT3) c.583A>G (p.Ile195Val),-:0.03,-:0.042365,- 1 156290817 . C . . NT END=156294762;NT GT ./. 1 156294881 . C . . NT END=156303337;NT GT ./. 1 156303435 . C . . NT END=156304503;NT GT ./. 1 156303631 rs61814806 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9718,A/0.02815;Gene=CCT3/NM_001008800.2/0;CC=c.94-197C>T;VC=Intron;Gene=CCT3/NM_005998.4/1;CC=c.208-197C>T;VC=Intron;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:A,G:13:0:0:0:6,7:176,208:16.53,0.00:0.00,0.00:16.53,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:48.0,4.1:0,0:0,0:89,103:60,48:32,19:NM_005998.4(CCT3) c.208-197C>T,-:0.03,-:NOT_FOUND,- 1 156304567 . C . . NT END=156304658;NT GT ./. 1 156304710 . C . . NT END=156305617;NT GT ./. 1 156304782 rs3762281 A G 131 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.5429,G/0.4571;Gene=CCT3/NM_001008800.2/0;CC=c.93+836T>C;VC=Intron;Gene=CCT3/NM_005998.4/1;CC=c.94-73T>C;VC=Intron;Gene=CCT3/NR_036564.1/0;VC=NonCoding;Gene=CCT3/NR_036565.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:11:0:0:36:1145:131.50:25.75:105.75:1.00:1.00:1.00:60:42.3:0:0:94:56:25:NM_005998.4(CCT3) c.94-73T>C,NM_005998.4(CCT3) c.94-73T>C:0.44,0.44:0.372317,0.372317 1 156305680 . C . . NT END=156306869;NT GT ./. 1 156306935 . c . . NT END=156307944;NT GT ./. 1 156307976 . G . . NT END=156309548;NT GT ./. 1 156309583 . G . . NT END=156314370;NT GT ./. 1 156314104 rs2025577 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5345,C/0.4655;Gene=TSACC/NM_144627.4/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304817.1/1;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304818.1/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304822.1/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304823.1/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NR_130913.1/0;VC=NonCoding;Gene=TSACC/NM_001304819.1/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304821.1/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304824.1/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304825.1/0;CC=c.35-267T>C;VC=Intron;Gene=TSACC/NM_001304826.1/0;CC=c.89-267T>C;VC=Intron;Gene=TSACC/NM_001304820.1/0;CC=c.35-267T>C;VC=Intron;DM=TSACC/SSTK-IP;DM=TSACC/SSTK-IP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:200:22.86:22.86:0.00:1.00:1.00:0.00:60:38.0:0:0:38:112:9:NM_144627.3(TSACC) c.35-267T>C,NM_144627.3(TSACC) c.35-267T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 1 156314500 . G . . NT END=156316558;NT GT ./. 1 156314627 rs2274226 A G 114 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.5335,G/0.4665;Gene=TSACC/NM_144627.4/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304817.1/1;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304818.1/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304822.1/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304823.1/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NR_130913.1/0;VC=NonCoding;Gene=TSACC/NM_001304819.1/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304821.1/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304824.1/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304825.1/0;CC=c.163+128A>G;VC=Intron;Gene=TSACC/NM_001304826.1/0;CC=c.217+128A>G;VC=Intron;Gene=TSACC/NM_001304820.1/0;CC=c.163+128A>G;VC=Intron;DM=TSACC/SSTK-IP;DM=TSACC/SSTK-IP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:A,G:32:2:0:0:1,31:19,1015:0.00,114.35:0.00,3.86:0.00,110.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,34.6:0,0:0,0:144,112:7,39:0,31:NM_144627.3(TSACC) c.163+128A>G,NM_144627.3(TSACC) c.163+128A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 156316774 . A . . NT END=156339040;NT GT ./. 1 156339228 . G . . NT END=156347091;NT GT ./. 1 156339378 rs56027890 C CT 35 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9591,CT/0.04093;DB;DBA=NA;PAF=C/0.9591,CT/0.04093;NP=12;Gene=RHBG/NM_001256395.1/1;CC=c.-144+154_-144+155insT;VC=Intron;Gene=RHBG/NM_001256396.1/0;CC=c.24+154_24+155insT;VC=Intron;Gene=RHBG/NM_020407.4/0;CC=c.187+154_187+155insT;VC=Intron;Gene=RHBG/NR_046115.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:23:0:12:0:11,12:327,358:0.00,34.61:0.00,0.00:0.00,34.61:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.1,22.6:1,0:0,0:130,94:21,55:11,27:-,NM_020407.4(RHBG) c.187+151_187+152insT:-,0.05:-,NOT_FOUND 1 156347279 . G . . NT END=156347780;NT GT ./. 1 156347309 rs56353055 A G 84 nt VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.9371,G/0.0629;Gene=RHBG/NM_001256395.1/1;CC=c.167+31A>G;VC=Intron;Gene=RHBG/NM_001256396.1/0;CC=c.284+31A>G;VC=Intron;Gene=RHBG/NM_020407.4/0;CC=c.374+31A>G;VC=Intron;Gene=RHBG/NR_046115.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:38:0:0:51,30:1698,932:0.00,84.30:0.00,23.68:0.00,60.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,41.8:0,0:0,0:97,110:51,40:25,26:-,NM_020407.4(RHBG) c.374+31A>G:-,0.07:-,0.085415 1 156347932 . G . . NT END=156348042;NT GT ./. 1 156348205 . G . . NT END=156351137;NT GT ./. 1 156351305 . G . . NT END=156351596;NT GT ./. 1 156351699 rs3748569 G A 151 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.4553,A/0.5447;PC=1.000;Gene=RHBG/NM_001256395.1/1;CC=c.736G>A;ProtCh=p.G246R;VC=Missense;Gene=RHBG/NM_001256396.1/0;CC=c.853G>A;ProtCh=p.G285R;VC=Missense;Gene=RHBG/NM_020407.4/0;CC=c.943G>A;ProtCh=p.G315R;VC=Missense;Gene=RHBG/NR_046115.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:111:77:0:0:50,1,60:1597,5,1966:150.55,-0.21,0.00:64.78,-0.16,0.00:85.78,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:54.8,119.0,5.8:0,0,0:0,0,0:50,80,79:99,43,70:35,0,41:NM_020407.4(RHBG) c.943G>A (p.Gly315Arg),-:0.55,-:0.458533,- 1 156351735 . G . . NT END=156351858;NT GT ./. 1 156351792 rs3748568 G A 190 nt VT=SNV;PN=C;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.4631,A/0.5369;Gene=RHBG/NM_001256395.1/1;CC=c.771+58G>A;VC=Intron;Gene=RHBG/NM_001256396.1/0;CC=c.888+58G>A;VC=Intron;Gene=RHBG/NM_020407.4/0;CC=c.978+58G>A;VC=Intron;Gene=RHBG/NR_046115.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:133:96:0:0:67,66:1981,2088:189.89,0.00:121.88,0.00:68.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.6,3.6:0,0:0,0:67,62:79,87:43,30:NM_020407.4(RHBG) c.978+58G>A,-:0.55,-:NOT_FOUND,- 1 156351993 . G . . NT END=156352538;NT GT ./. 1 156352661 . G . . NT END=156354317;NT GT ./. 1 156352870 rs4618959 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5621,A/0.4379;Gene=RHBG/NM_001256395.1/1;CC=c.1027+210G>A;VC=Intron;Gene=RHBG/NM_001256396.1/0;CC=c.1144+210G>A;VC=Intron;Gene=RHBG/NM_020407.4/0;CC=c.1234+210G>A;VC=Intron;Gene=RHBG/NR_046115.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:12:0:0:0:5,7:157,235:14.55,0.00:0.00,0.00:14.55,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:31.4,1.7:0,0:0,0:144,133:7,17:5,11:NM_020407.4(RHBG) c.1234+210G>A,-:0.41,-:NOT_FOUND,- 1 156354293 rs6668731 A G 91 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.5769,G/0.4231;Gene=RHBG/NM_001256395.1/1;CC=c.1028-25A>G;VC=Intron;Gene=RHBG/NM_001256396.1/0;CC=c.1145-25A>G;VC=Intron;Gene=RHBG/NM_020407.4/0;CC=c.1235-25A>G;VC=Intron;Gene=RHBG/NR_046115.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:45:0:0:24,30:770,926:0.00,90.57:0.00,61.53:0.00,29.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,60.8:0,0:0,0:67,50:83,95:28,28:-,NM_020407.4(RHBG) c.1235-25A>G:-,0.41:-,0.341345 1 156354347 rs11303415 TC T 89 rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=1547;Gene=RHBG/NM_001256395.1/1;CC=c.1064delC;VC=SpliceSiteCDS;Gene=RHBG/NM_001256396.1/0;CC=c.1181delC;VC=SpliceSiteCDS;Gene=RHBG/NM_020407.4/0;CC=c.1271delC;VC=SpliceSiteCDS;Gene=RHBG/NR_046115.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:65:45:0:32:34,31:1035,934:0.00,88.68:0.00,54.75:0.00,33.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,63.7:0,0:0,0:90,76:59,67:41,36:-,NM_020407.4(RHBG) c.1265C[6] (p.Pro424Glnfs*26):-,NOT_FOUND:-,NOT_FOUND 1 156354367 rs6668857 A G 107 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.267,G/0.733;PC=1.000;Gene=RHBG/NM_001256395.1/1;CC=c.1076A>G;ProtCh=p.H359R;VC=Missense;Gene=RHBG/NM_001256396.1/0;CC=c.1193A>G;ProtCh=p.H398R;VC=Missense;Gene=RHBG/NM_020407.4/0;CC=c.1283A>G;ProtCh=p.H428R;VC=Missense;Gene=RHBG/NR_046115.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:49:0:0:33,36:1104,1106:0.00,106.83:0.00,57.57:0.00,49.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,60.6:0,0:0,0:70,74:64,73:38,30:-,NM_020407.4(RHBG) c.1283A>G (p.His428Arg):-,0.72:-,0.633355 1 156354392 . G . . NT END=156354568;NT GT ./. 1 156354638 . C . . NT END=156374317;NT GT ./. 1 156374394 . C . . NT END=156376871;NT GT ./. 1 156376990 . c . . NT END=156377633;NT GT ./. 1 156377768 . C . . NT END=156379408;NT GT ./. 1 156379184 rs6662317 G C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=155;Gene=C1orf61/NM_006365.1/1;CC=c.172-1417C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:55.2:0:0:59:92:39:NM_006365.1(C1orf61) c.172-1417C>G,NM_006365.1(C1orf61) c.172-1417C>G:1,1:NOT_FOUND,NOT_FOUND 1 156379465 . C . . NT END=156382313;NT GT ./. 1 156382839 . C . . NT END=156384445;NT GT ./. 1 156384546 . C . . NT END=156386560;NT GT ./. 1 156386657 . C . . NT END=156391346;NT GT ./. 1 156391367 . C . . NT END=156437436;NT GT ./. 1 156437449 . C . . NT END=156437784;NT GT ./. 1 156438092 . C . . NT END=156438571;NT GT ./. 1 156438813 . C . . NT END=156444899;NT GT ./. 1 156439000 rs1109751 T C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6815,C/0.3185;Gene=MEF2D/NM_001271629.1/0;CC=c.986-188A>G;VC=Intron;Gene=MEF2D/NM_005920.3/1;CC=c.1007-188A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:0:0:0:10,13:320,373:29.92,0.00:0.00,0.00:29.92,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.0,20.8:0,0:0,0:106,96:44,55:19,42:NM_005920.2(MEF2D) c.1007-188A>G,-:0.33,-:NOT_FOUND,- 1 156445030 . C . . NT END=156446285;NT GT ./. 1 156446242 rs2274316 C A 99 nt VT=SNV;PN=A;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.4289,A/0.5711;Gene=MEF2D/NM_001271629.1/0;CC=c.855+562G>T;VC=Intron;Gene=MEF2D/NM_005920.3/1;CC=c.876+44G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:57:47:0:0:32,25:1004,828:98.69,0.00:60.91,0.00:37.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,4.7:0,0:0,0:44,44:103,107:21,26:NM_005920.2(MEF2D) c.876+44G>T,-:0.57,-:0.540289,- 1 156446307 . C . . NT END=156446803;NT GT ./. 1 156446450 rs12131289 C T 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4285,T/0.5715;Gene=MEF2D/NM_001271629.1/0;CC=c.855+354G>A;VC=Intron;Gene=MEF2D/NM_005920.3/1;CC=c.856-144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:5:0:0:16,11:490,352:0.00,32.51:0.00,3.02:0.00,29.49:0.00,1.00:0.00,0.92:0.00,1.00:60,60:14.1,45.0:0,0:0,0:103,97:48,53:38,30:-,NM_005920.2(MEF2D) c.856-144G>A:-,0.57:-,NOT_FOUND 1 156446903 rs2274317 T C 189 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.4283,A/.,C/0.5717;Gene=MEF2D/NM_001271629.1/0;CC=c.756A>G;ProtCh=p.P252=;VC=Silent;Gene=MEF2D/NM_005920.3/1;CC=c.756A>G;ProtCh=p.P252=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:124:96:0:0:62,1,61:1968,9,1881:189.35,-0.15,0.00:87.42,-0.05,0.00:101.93,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.6,57.0,7.8:0,0,0:0,0,0:86,99,67:55,52,81:34,0,31:NM_005920.2(MEF2D) c.=,-:0.57,-:0.541289,- 1 156446995 . C . . NT END=156449081;NT GT ./. 1 156449139 . C . . NT END=156449377;NT GT ./. 1 156449589 . C . . NT END=156450434;NT GT ./. 1 156450570 . C . . NT END=156450625;NT GT ./. 1 156450719 rs1185700 G A 262 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=G/0.7674,A/0.2326;PC=0.003;Gene=MEF2D/NM_001271629.1/0;CC=c.303C>T;ProtCh=p.P101=;VC=Silent;Gene=MEF2D/NM_005920.3/1;CC=c.303C>T;ProtCh=p.P101=;VC=Silent;DM=MEF2D/HJURP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:173:109:0:0:83,89,1:2739,2719,13:261.84,0.00,-0.11:122.33,0.00,0.03:139.51,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.9,37.0,110.0:0,0,0:0,0,0:61,64,93:86,85,58:36,31,0:NM_005920.2(MEF2D) c.303C>T (p.(=)),-:0.25,-:0.224504,- 1 156450740 rs1925950 G A 262 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=167;DB;DBA=NA;PAF=G/0.4277,A/0.5723;PC=0.999;Gene=MEF2D/NM_001271629.1/0;CC=c.282C>T;ProtCh=p.N94=;VC=Silent;Gene=MEF2D/NM_005920.3/1;CC=c.282C>T;ProtCh=p.N94=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:167:99:0:0:83,84:2725,2704:261.85,0.00:107.85,0.00:154.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,37.7:0,0:0,0:78,62:68,81:28,32:NM_005920.2(MEF2D) c.=,-:0.57,-:0.541455,- 1 156450764 . C . . NT END=156452228;NT GT ./. 1 156450873 rs2274319 T C 89 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.3482,C/0.6518;Gene=MEF2D/NM_001271629.1/0;CC=c.259-110A>G;VC=Intron;Gene=MEF2D/NM_005920.3/1;CC=c.259-110A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:23:0:0:28,37:946,1130:88.69,0.00:21.27,0.00:67.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.4,18.0:0,0:0,0:113,119:35,31:20,17:NM_005920.2(MEF2D) c.259-110A>G,-:0.64,-:NOT_FOUND,- 1 156452093 rs1171558 G A 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8033,A/0.1967;PC=0.001;Gene=MEF2D/NM_001271629.1/0;CC=c.258+136C>T;VC=Intron;Gene=MEF2D/NM_005920.3/1;CC=c.258+136C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:32:0:0:19,13:588,354:58.54,0.00:58.54,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.5,12.2:0,0:0,0:49,36:102,115:38,28:NM_005920.2(MEF2D) c.258+136C>T,-:0.22,-:NOT_FOUND,- 1 156452433 . C . . NT END=156453030;NT GT ./. 1 156452783 rs1171559 A T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.03395,T/0.9661;Gene=MEF2D/NM_001271629.1/0;CC=c.54+248T>A;VC=Intron;Gene=MEF2D/NM_005920.3/1;CC=c.54+248T>A;VC=Intron;DM=MEF2D/SRF-TF;DM=MEF2D/SRF-TF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:165:18.88:11.43:7.45:1.00:1.00:1.00:60:40.0:0:0:93:57:32:NM_005920.2(MEF2D) c.54+248T>A,NM_005920.2(MEF2D) c.54+248T>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 156452870 rs2282286 G A 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4281,A/0.5719;Gene=MEF2D/NM_001271629.1/0;CC=c.54+161C>T;VC=Intron;Gene=MEF2D/NM_005920.3/1;CC=c.54+161C>T;VC=Intron;DM=MEF2D/SRF-TF;DM=MEF2D/SRF-TF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:11,7:376,214:37.62,0.00:37.62,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:60.9,9.6:0,0:0,0:46,38:102,113:16,24:NM_005920.2(MEF2D) c.54+161C>T,-:0.57,-:NOT_FOUND,- 1 156453085 . C . . NT END=156496277;NT GT ./. 1 156496188 rs6427315 A G 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.0617,G/0.9383;PC=0.001;Gene=IQGAP3/NM_178229.4/1;CC=c.*90T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:276:31.85:31.85:0.00:1.00:1.00:0.00:60:38.4:0:0:60:91:18:NM_178229.4(IQGAP3) c.=,NM_178229.4(IQGAP3) c.=:0.95,0.95:NOT_FOUND,NOT_FOUND 1 156496392 . C . . NT END=156497743;NT GT ./. 1 156497853 . C . . NT END=156498300;NT GT ./. 1 156498403 . C . . NT END=156498707;NT GT ./. 1 156498875 . C . . NT END=156499896;NT GT ./. 1 156500110 . C . . NT END=156500951;NT GT ./. 1 156501040 . C . . NT END=156502771;NT GT ./. 1 156502899 . C . . NT END=156503564;NT GT ./. 1 156503541 rs6699212 T C 161 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.01238,C/0.9876;NP=3443;Gene=IQGAP3/NM_178229.4/1;CC=c.3976+24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C:45:40:0:0:45:1395:160.91:121.45:39.46:1.00:1.00:1.00:60:39.4:0:0:52:99:32:NM_178229.4(IQGAP3) c.3976+24A>G,NM_178229.4(IQGAP3) c.3976+24A>G:0.99,0.99:0.986314,0.986314 1 156503668 . C . . NT END=156503800;NT GT ./. 1 156503934 . C . . NT END=156504292;NT GT ./. 1 156504526 . C . . NT END=156504954;NT GT ./. 1 156505040 . C . . NT END=156506972;NT GT ./. 1 156507114 . C . . NT END=156508600;NT GT ./. 1 156508826 . C . . NT END=156509165;NT GT ./. 1 156509330 . C . . NT END=156509629;NT GT ./. 1 156509552 rs1171570 C G 182 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.01238,G/0.9876;Gene=IQGAP3/NM_178229.4/1;CC=c.2892+78G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:G:49:36:0:0:49:1587:182.03:122.48:59.55:1.00:1.00:1.00:60:43.2:0:0:44:106:32:NM_178229.4(IQGAP3) c.2892+78G>C,NM_178229.4(IQGAP3) c.2892+78G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156509783 . C . . NT END=156510499;NT GT ./. 1 156510709 . C . . NT END=156513772;NT GT ./. 1 156510806 rs74327053 C T 51 nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9832,T/0.01677;PC=0.103;Gene=IQGAP3/NM_178229.4/1;CC=c.2531-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:1:0:0:14,17:448,523:0.00,51.11:0.00,1.81:0.00,49.31:0.00,1.00:0.00,0.70:0.00,1.00:60,60:6.7,38.8:0,0:0,0:109,99:41,52:22,22:-,NM_178229.4(IQGAP3) c.2531-98G>A:-,0.02:-,NOT_FOUND 1 156513843 . C . . NT END=156513943;NT GT ./. 1 156514016 . C . . NT END=156514180;NT GT ./. 1 156514265 . C . . NT END=156517864;NT GT ./. 1 156518036 . C . . NT END=156518139;NT GT ./. 1 156518280 . C . . NT END=156518372;NT GT ./. 1 156518541 . C . . NT END=156520052;NT GT ./. 1 156520144 . C . . NT END=156521496;NT GT ./. 1 156520173 rs1778819 T A 181 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.01198,A/0.988;Gene=IQGAP3/NM_178229.4/1;CC=c.1735-30A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A:49:19:0:0:49:1577:180.99:52.68:128.31:1.00:1.00:1.00:60:40.2:0:0:109:41:26:NM_178229.4(IQGAP3) c.1735-30A>T,NM_178229.4(IQGAP3) c.1735-30A>T:0.99,0.99:0.987314,0.987314 1 156521661 . C . . NT END=156521765;NT GT ./. 1 156521888 . C . . NT END=156524026;NT GT ./. 1 156522313 rs4661180 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.147,G/0.853;Gene=IQGAP3/NM_178229.4/1;CC=c.1449-426T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:37.2:0:0:92:59:22:NM_178229.4(IQGAP3) c.1449-426T>C,NM_178229.4(IQGAP3) c.1449-426T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 156524185 . C . . NT END=156526324;NT GT ./. 1 156524344 rs6686323 T G 112 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.03994,G/0.9601;PC=0.001;Gene=IQGAP3/NM_178229.4/1;CC=c.1291-160A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:0:0:0:32:973:112.47:0.00:112.47:1.00:0.00:1.00:60:43.2:0:0:107:43:21:NM_178229.4(IQGAP3) c.1291-160A>C,NM_178229.4(IQGAP3) c.1291-160A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156526234 rs2489139 C T 88 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.03994,T/0.9601;Gene=IQGAP3/NM_178229.4/1;CC=c.1290+91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:24:0:0:24:769:88.34:86.35:1.99:1.00:1.00:1.00:60:34.5:0:0:25:126:13:NM_178229.4(IQGAP3) c.1290+91G>A,NM_178229.4(IQGAP3) c.1290+91G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156526387 rs11264498 C G 296 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.6218,G/0.3782;PC=1.000;Gene=IQGAP3/NM_178229.4/1;CC=c.1228G>C;ProtCh=p.V410L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:59:0:0:78:2594:296.45:171.13:125.33:1.00:1.00:1.00:60:57.5:0:0:80:69:28:NM_178229.4(IQGAP3) c.1228G>C (p.Val410Leu),NM_178229.4(IQGAP3) c.1228G>C (p.Val410Leu):0.47,0.47:0.50246,0.50246 1 156526444 rs2488269 T C 303 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.03994,C/0.9601;PC=1.000;Gene=IQGAP3/NM_178229.4/1;CC=c.1171A>G;ProtCh=p.R391G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:84:55:0:0:83,1:2640,10:302.99,0.12:142.32,0.00:160.67,0.12:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.9,138.0:0,0:0,0:70,90:76,59:34,0:NM_178229.4(IQGAP3) c.=,NM_178229.4(IQGAP3) c.=:0.97,0.97:0.957558,0.957558 1 156526486 . C . . NT END=156530725;NT GT ./. 1 156530814 . C . . NT END=156531629;NT GT ./. 1 156530965 rs371964545 G GT 10 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=4;Gene=IQGAP3/NM_178229.4/1;CC=c.1042-153_1042-152insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:G,GT:12:1:4:0:8,4:257,110:0.00,9.59:0.00,-0.18:0.00,9.77:0.00,0.80:0.00,0.56:0.00,0.98:60,70:8.9,25.8:0,0:0,0:101,100:50,51:25,22:-,NM_178229.4(IQGAP3) c.1042-153_1042-152insA:-,NOT_FOUND:-,NOT_FOUND 1 156531474 rs1171544 A G 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.04014,G/0.9599;Gene=IQGAP3/NM_178229.4/1;CC=c.1041+156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:458:52.45:52.45:0.00:1.00:1.00:0.00:60:40.1:0:0:63:86:40:NM_178229.4(IQGAP3) c.1041+156T>C,NM_178229.4(IQGAP3) c.1041+156T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156531794 . C . . NT END=156532378;NT GT ./. 1 156531871 rs1171545 A G 154 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.04014,G/0.9599;Gene=IQGAP3/NM_178229.4/1;CC=c.878-78T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:G:40:9:0:0:40:1347:153.73:20.32:133.41:1.00:1.00:1.00:60:41.4:0:0:106:45:21:NM_178229.4(IQGAP3) c.878-78T>C,NM_178229.4(IQGAP3) c.878-78T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156532207 rs1171546 T C 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.04034,C/0.9597;Gene=IQGAP3/NM_178229.4/1;CC=c.877+172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:237:27.49:27.49:0.00:1.00:1.00:0.00:60:83.9:0:0:48:102:46:NM_178229.4(IQGAP3) c.877+172A>G,NM_178229.4(IQGAP3) c.877+172A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156532250 rs1778828 T C 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.04014,C/0.9599;Gene=IQGAP3/NM_178229.4/1;CC=c.877+129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:294:34.14:34.14:0.00:1.00:1.00:0.00:60:100.5:0:0:45:105:30:NM_178229.4(IQGAP3) c.877+129A>G,NM_178229.4(IQGAP3) c.877+129A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156532252 rs1778827 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.03994,T/0.9601;Gene=IQGAP3/NM_178229.4/1;CC=c.877+127G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:318:36.09:36.09:0.00:1.00:1.00:0.00:60:105.2:0:0:45:105:26:NM_178229.4(IQGAP3) c.877+127G>A,NM_178229.4(IQGAP3) c.877+127G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 156532344 rs7548309 T G 96 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4287,G/0.5713;Gene=IQGAP3/NM_178229.4/1;CC=c.877+35A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:21:0:0:25:839:95.82:68.28:27.54:1.00:1.00:1.00:60:53.6:0:0:53:98:38:NM_178229.4(IQGAP3) c.877+35A>C,NM_178229.4(IQGAP3) c.877+35A>C:0.64,0.64:0.68453,0.68453 1 156532458 . C . . NT END=156532925;NT GT ./. 1 156532733 rs4661183 T C 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6132,C/0.3868;Gene=IQGAP3/NM_178229.4/1;CC=c.798+193A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:8:0:0:9:272:31.49:27.81:3.68:1.00:1.00:1.00:60:38.3:0:0:55:96:30:NM_178229.4(IQGAP3) c.798+193A>G,NM_178229.4(IQGAP3) c.798+193A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 156532908 rs16837492 C A 252 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.4419,A/0.5581;Gene=IQGAP3/NM_178229.4/1;CC=c.798+18G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:73:67:0:0:73:2180:252.45:194.31:58.14:1.00:1.00:1.00:60:56.9:0:0:53:92:34:NM_178229.4(IQGAP3) c.798+18G>T,NM_178229.4(IQGAP3) c.798+18G>T:0.63,0.63:0.674381,0.674381 1 156532977 rs1171547 T C 360 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.04014,C/0.9599;PC=1.000;Gene=IQGAP3/NM_178229.4/1;CC=c.747A>G;ProtCh=p.Q249=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:66:0:0:95:3144:359.65:190.02:169.63:1.00:1.00:1.00:60:55.1:0:0:72:72:34:NM_178229.4(IQGAP3) c.747A>G (p.(=)),NM_178229.4(IQGAP3) c.747A>G (p.(=)):0.97,0.97:0.957481,0.957481 1 156533105 . C . . NT END=156533344;NT GT ./. 1 156533459 . C . . NT END=156533548;NT GT ./. 1 156533617 . C . . NT END=156534406;NT GT ./. 1 156534484 . C . . NT END=156535818;NT GT ./. 1 156534525 rs4661184 A C 130 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.498,C/0.502;Gene=IQGAP3/NM_178229.4/1;CC=c.361-42T>G;VC=Intron;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:14:0:0:33:1140:129.74:35.24:94.50:1.00:1.00:1.00:60:63.7:0:0:102:48:33:NM_178229.4(IQGAP3) c.361-42T>G,NM_178229.4(IQGAP3) c.361-42T>G:0.57,0.57:0.620098,0.620098 1 156534539 rs4661185 G A 91 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4427,A/0.5573;Gene=IQGAP3/NM_178229.4/1;CC=c.361-56C>T;VC=Intron;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:8:0:0:26:791:91.49:19.27:72.22:1.00:1.00:1.00:60:72.8:0:0:110:38:28:NM_178229.4(IQGAP3) c.361-56C>T,NM_178229.4(IQGAP3) c.361-56C>T:0.62,0.62:0.680245,0.680245 1 156535897 . C . . NT END=156536181;NT GT ./. 1 156536123 rs2066378 T C 171 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.04014,C/0.9599;PC=0.007;Gene=IQGAP3/NM_178229.4/1;CC=c.282+59A>G;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C:45:40:0:0:45:1493:170.71:132.87:37.83:1.00:1.00:1.00:60:94.3:0:0:41:104:27:NM_178229.4(IQGAP3) c.282+59A>G,NM_178229.4(IQGAP3) c.282+59A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156536133 rs4382715 A G 175 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.04014,G/0.9599;Gene=IQGAP3/NM_178229.4/1;CC=c.282+49T>C;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:45:41:0:0:45:1532:174.62:135.70:38.92:1.00:1.00:1.00:60:95.1:0:0:51:89:28:NM_178229.4(IQGAP3) c.282+49T>C,NM_178229.4(IQGAP3) c.282+49T>C:0.97,0.97:0.957404,0.957404 1 156536221 rs2066377 G C 239 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.04014,C/0.9599,T/.;PC=0.992;Gene=IQGAP3/NM_178229.4/1;CC=c.243C>G;ProtCh=p.P81=;VC=Silent;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A,C:66:51:0:0:1,65:11,2085:0.18,239.00:0.00,161.33:0.18,77.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:108.0,93.8:0,0:0,0:64,78:86,72:0,36:NM_178229.4(IQGAP3) c.243C>G (p.(=)),NM_178229.4(IQGAP3) c.243C>G (p.(=)):0.97,0.97:0.957481,0.957481 1 156536251 rs947662 T C 247 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.04014,C/0.9599;PC=0.992;Gene=IQGAP3/NM_178229.4/1;CC=c.213A>G;ProtCh=p.L71=;VC=Silent;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:C,T:70:48:0:0:68,2:2174,17:246.76,0.00:138.12,0.00:108.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.6,68.0:0,0:0,0:70,57:75,90:36,51:NM_178229.4(IQGAP3) c.213A>G (p.(=)),NM_178229.4(IQGAP3) c.213A>G (p.(=)):0.97,0.97:0.957481,0.957481 1 156536339 . C . . NT END=156539167;NT GT ./. 1 156536353 rs947663 A G 261 nt VT=SNV;PN=A;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.04014,G/0.9599;Gene=IQGAP3/NM_178229.4/1;CC=c.126-15T>C;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:A,G:71:37:0:0:1,70:10,2297:0.00,261.24:0.00,91.91:0.00,169.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:61.0,58.5:0,0:0,0:135,83:15,62:0,22:NM_178229.4(IQGAP3) c.126-15T>C,NM_178229.4(IQGAP3) c.126-15T>C:0.97,0.97:0.957558,0.957558 1 156536480 rs947664 T C 76 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.04014,C/0.9599;Gene=IQGAP3/NM_178229.4/1;CC=c.126-142A>G;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:0:0:0:20:664:75.93:0.00:75.93:1.00:0.00:1.00:60:57.8:0:0:106:43:31:NM_178229.4(IQGAP3) c.126-142A>G,NM_178229.4(IQGAP3) c.126-142A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156536567 rs947665 G A 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.04014,A/0.9599;Gene=IQGAP3/NM_178229.4/1;CC=c.126-229C>T;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:244:28.65:0.00:28.65:1.00:0.00:1.00:60:98.4:0:0:74:77:24:NM_178229.4(IQGAP3) c.126-229C>T,NM_178229.4(IQGAP3) c.126-229C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156536662 rs6663421 T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=IQGAP3/NM_178229.4/1;CC=c.126-324A>G;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:0:0:0:3,1:105,34:10.95,0.00:0.00,0.00:10.95,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:154.7,135.0:0,0:0,0:115,107:36,44:6,0:NM_178229.4(IQGAP3) c.126-324A>G,-:0.59,-:NOT_FOUND,- 1 156538973 rs1778825 A G 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.008387,G/0.9916;NP=383;Gene=IQGAP3/NM_178229.4/1;CC=c.125+195T>C;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:7:0:0:7:166:19.75:19.75:0.00:1.00:1.00:0.00:60:66.3:0:0:39:112:25:NM_178229.4(IQGAP3) c.125+195T>C,NM_178229.4(IQGAP3) c.125+195T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156539019 rs11332475 CA C 32 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CA/0.02895,C/0.971;NP=485;PC=0.070;Gene=IQGAP3/NM_178229.4/1;CC=c.125+148delT;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:CA,C:11:12:0:11:1,10:13,323:0.00,32.22:0.00,32.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:94.0,51.9:0,1:0,0:115,47:35,97:0,21:NM_178229.4(IQGAP3) c.125+148delT,NM_178229.4(IQGAP3) c.125+148delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 156539154 rs6427319 T C 147 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.009185,C/0.9908;NP=3449;Gene=IQGAP3/NM_178229.4/1;CC=c.125+14A>G;VC=Intron;DM=IQGAP3/CH;DM=IQGAP3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:37:0:0:41:1276:147.12:100.38:46.74:1.00:1.00:1.00:60:39.5:0:0:64:84:31:NM_178229.4(IQGAP3) c.125+14A>G,NM_178229.4(IQGAP3) c.125+14A>G:0.99,0.99:0.989159,0.989159 1 156539256 . C . . NT END=156542284;NT GT ./. 1 156542322 . G . . NT END=156551156;NT GT ./. 1 156548049 rs71080777 A AGAGAGTGTGT 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;NP=4;NP=5;NP=7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,T,AGAGAGTGTGT:5:5:4:0:1,1,3:35,30,130:0.00,2.62,9.83:0.00,2.66,8.39:0.00,-0.04,1.44:0.00,0.00,0.73:0.00,0.00,0.96:0.00,0.00,0.89:60,60,60:64.0,85.0,61.7:0,0,1:0,0,0:105,23,68:23,127,71:0,0,20:-,NM_001105669.2(TTC24) c.-36-u1470_-36-u1469insGAGAGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 156548073 . T C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:3:0:0:3,1:99,32:10.35,0.00:7.20,0.00:3.15,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,60:54.0,85.0:0,0:0,0:89,47:43,103:14,0:NM_001105669.2(TTC24) c.-36-u1446T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 156551848 rs6682716 A G 486 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.65,G/0.35;PC=0.024;Gene=TTC24/NM_001105669.2/1;CC=c.692A>G;ProtCh=p.E231G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:136:66:0:0:136:4213:485.85:162.36:323.49:1.00:1.00:1.00:60:39.6:0:0:92:56:32:NM_001105669.2(TTC24) c.692A>G (p.Glu231Gly),NM_001105669.2(TTC24) c.692A>G (p.Glu231Gly):0.42,0.42:0.559185,0.559185 1 156551863 . G . . NT END=156552022;NT GT ./. 1 156552227 . G . . NT END=156552833;NT GT ./. 1 156552720 rs6688600 T G 245 nt VT=SNV;PN=T;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.09046,G/0.9095;Gene=TTC24/NM_001105669.2/1;CC=c.911-114T>G;VC=Intron;DM=TTC24/TPR_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G:64:61:0:0:64:2142:244.66:220.90:23.76:1.00:1.00:1.00:60:46.0:0:0:42:108:26:NM_001105669.2(TTC24) c.911-114T>G,NM_001105669.2(TTC24) c.911-114T>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 156552963 . G . . NT END=156553129;NT GT ./. 1 156553243 . G . . NT END=156553588;NT GT ./. 1 156553688 . G . . NT END=156554668;NT GT ./. 1 156553762 rs11264502 A C 104 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.09046,C/0.9095;Gene=TTC24/NM_001105669.2/1;CC=c.1251+75A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:4:0:0:29:901:103.89:9.99:93.90:1.00:1.00:1.00:60:34.0:0:0:117:27:24:NM_001105669.2(TTC24) c.1251+75A>C,NM_001105669.2(TTC24) c.1251+75A>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 156554767 . G . . NT END=156554916;NT GT ./. 1 156555024 . G . . NT END=156555504;NT GT ./. 1 156555200 rs10796960 G A 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.008786,A/0.9912;NP=830;Gene=TTC24/NM_001105669.2/1;CC=c.1456+177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:337:38.94:0.00:38.94:1.00:0.00:1.00:60:34.6:0:0:67:82:37:NM_001105669.2(TTC24) c.1456+177G>A,NM_001105669.2(TTC24) c.1456+177G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156555619 . G . . NT END=156555740;NT GT ./. 1 156555838 . G . . NT END=156556260;NT GT ./. 1 156556321 rs10796961 G A 299 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.232,A/0.768;PC=0.979;Gene=TTC24/NM_001105669.2/1;CC=c.1728G>A;ProtCh=p.S576=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:55:0:0:78:2620:299.17:138.67:160.50:1.00:1.00:1.00:60:43.9:0:0:80:65:32:NM_001105669.2(TTC24) c.1728G>A (p.(=)),NM_001105669.2(TTC24) c.1728G>A (p.(=)):0.81,0.81:0.796491,0.796491 1 156556343 . C . . NT END=156561596;NT GT ./. 1 156556606 rs6699526 A G 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.008786,G/0.9912;NP=306 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:189:21.75:0.00:21.75:1.00:0.00:1.00:60:35.8:0:0:89:60:29:NM_144772.2(APOA1BP) c.-39-u4952A>G,NM_144772.2(APOA1BP) c.-39-u4952A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156561414 rs6698493 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.07169,C/0.9283 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:54.2:0:0:45:105:7:NM_144772.2(APOA1BP) c.-39-u144T>C,NM_144772.2(APOA1BP) c.-39-u144T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 156561557 rs58410616 G GGGGCCGGGCC 61 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=3;NP=4;NP=4;NP=8;Gene=APOA1BP/NM_144772.2/1;CC=c.-22_-21insCCGGGCCGGG;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GGGGCCGGGCC:32:32:20:0:1,11,20:32,259,601:2.03,0.00,61.11:2.03,0.00,61.32:-0.01,0.00,-0.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.75:60,60,60:65.0,36.7,39.7:0,1,0:0,0,0:0,115,33:150,19,116:0,21,12:-,NM_144772.2(APOA1BP) c.-39-u1_-39insGGGCCGGGCC:-,NOT_FOUND:-,0.377261 1 156561651 rs7516274 G C 354 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.07129,C/0.9287,T/.;PC=0.258;Gene=APOA1BP/NM_144772.2/1;CC=c.55G>C;ProtCh=p.V19L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:98:90:0:0:1,96,1:21,3089,15:0.68,353.68,0.28:0.68,244.59,0.28:0.00,109.10,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:21,60,60:114.0,44.2,36.0:0,0,0:0,0,0:115,44,27:17,102,124:0,27,0:NM_144772.2(APOA1BP) c.55G>C (p.Val19Leu),NM_144772.2(APOA1BP) c.55G>C (p.Val19Leu):0.95,0.95:0.947721,0.947721 1 156561779 . G . . NT END=156561892;NT GT ./. 1 156562002 . G . . NT END=156562156;NT GT ./. 1 156562008 rs1925949 G A 298 nt VT=SNV;PN=T;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.07149,A/0.9285;PC=0.061;Gene=APOA1BP/NM_144772.2/1;CC=c.291+7G>A;VC=Intron;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:30:0:0:79:2606:298.21:83.30:214.92:1.00:1.00:1.00:60:42.0:0:0:102:48:30:NM_144772.2(APOA1BP) c.291+7G>A,NM_144772.2(APOA1BP) c.291+7G>A:0.94,0.94:0.931647,0.931647 1 156562143 rs942959 G A 265 nt VT=SNV;PN=T;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.07149,A/0.9285,T/.;PC=0.015;Gene=APOA1BP/NM_144772.2/1;CC=c.292-14G>A;VC=Intron;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:78:52:0:0:77,1:2295,10:265.46,0.13:141.70,0.00:123.76,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,197.0:0,0:0,0:49,83:96,68:23,0:NM_144772.2(APOA1BP) c.292-14G>A,NM_144772.2(APOA1BP) c.292-14G>A:0.94,0.94:0.931801,0.931801 1 156562268 . G . . NT END=156562348;NT GT ./. 1 156562463 . G . . NT END=156563199;NT GT ./. 1 156562930 rs942960 T C 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.07149,C/0.9285;Gene=APOA1BP/NM_144772.2/1;CC=c.517-270T>C;VC=Intron;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:276:31.89:31.89:0.00:1.00:1.00:0.00:60:88.2:0:0:49:93:31:NM_144772.2(APOA1BP) c.517-270T>C,NM_144772.2(APOA1BP) c.517-270T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 156562981 rs942961 T C 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.07129,C/0.9287;Gene=APOA1BP/NM_144772.2/1;CC=c.517-219T>C;VC=Intron;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:16:0:0:16:467:54.19:54.19:0.00:1.00:1.00:0.00:60:103.5:0:0:56:93:38:NM_144772.2(APOA1BP) c.517-219T>C,NM_144772.2(APOA1BP) c.517-219T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 156563025 rs942962 A G 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.008786,G/0.9912;Gene=APOA1BP/NM_144772.2/1;CC=c.517-175A>G;VC=Intron;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:536:62.49:62.49:0.00:1.00:1.00:0.00:60:85.6:0:0:53:98:30:NM_144772.2(APOA1BP) c.517-175A>G,NM_144772.2(APOA1BP) c.517-175A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156563348 . G . . NT END=156563673;NT GT ./. 1 156563375 rs6427321 G A 271 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.07149,A/0.9285;PC=0.001;Gene=APOA1BP/NM_144772.2/1;CC=c.664+28G>A;VC=Intron;DM=APOA1BP/YjeF_N;DM=APOA1BP/YjeF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,I:75:29:1:0:74,1:2367,23:271.41,0.94:71.23,0.00:200.18,0.94:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,0.0:0,0:0,0:96,3:53,148:30,0:NM_144772.2(APOA1BP) c.664+28G>A,NM_144772.2(APOA1BP) c.664+28G>A:0.94,0.94:0.931801,0.931801 1 156563726 rs6427322 A C 386 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.07149,C/0.9285,T/.;PC=1.000;Gene=APOA1BP/NM_144772.2/1;CC=c.717A>C;ProtCh=p.I239=;VC=Silent;DM=APOA1BP/YjeF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:100:81:0:0:100:3388:386.42:225.38:161.04:1.00:1.00:1.00:60:56.7:0:0:71:78:27:NM_144772.2(APOA1BP) c.717A>C (p.(=)),NM_144772.2(APOA1BP) c.717A>C (p.(=)):0.94,0.94:0.931801,0.931801 1 156563813 rs6668178 G A 364 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.07149,A/0.9285;PC=1.000;Gene=APOA1BP/NM_144772.2/1;CC=c.804G>A;ProtCh=p.E268=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:101:62:0:0:99,2:3203,25:363.75,0.00:147.36,0.00:216.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:88.9,71.5:0,2:0,0:81,103:63,48:29,32:NM_144772.2(APOA1BP) c.804G>A (p.(=)),NM_144772.2(APOA1BP) c.804G>A (p.(=)):0.94,0.94:0.931801,0.931801 1 156563852 rs942963 C T 334 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.07149,T/0.9285;Gene=APOA1BP/NM_144772.2/1;CC=c.843C>T;ProtCh=p.T281=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:89:46:0:0:89:2919:334.21:114.83:219.38:1.00:1.00:1.00:60:94.8:0:0:102:49:24:NM_144772.2(APOA1BP) c.843C>T (p.(=)),NM_144772.2(APOA1BP) c.843C>T (p.(=)):0.94,0.94:0.931801,0.931801 1 156563877 . G . . NT END=156565004;NT GT ./. 1 156563898 rs1270 T C 198 nt VT=SNV;PN=T;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.07149,A/.,C/0.9285,G/.;Gene=APOA1BP/NM_144772.2/1;CC=c.*22T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C,G:55:24:0:0:54,1:1727,12:198.01,0.25:54.47,0.25:143.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:93.0,87.0:0,0:0,0:96,131:50,20:29,0:NM_144772.2(APOA1BP) c.*22T>C,NM_144772.2(APOA1BP) c.*22T>C:0.94,0.94:0.929648,0.929648 1 156563992 rs1271 C G 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.07149,G/0.9285;Gene=APOA1BP/NM_144772.2/1;CC=c.*116C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:0:0:0:20:630:72.48:0.00:72.48:1.00:0.00:1.00:60:57.0:0:0:92:58:33:NM_144772.2(APOA1BP) c.*116C>G,NM_144772.2(APOA1BP) c.*116C>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 156564922 rs3795733 C T 246 nt VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.5645,T/0.4355;Gene=GPATCH4/NM_015590.3/0;CC=c.*83G>A;VC=3UTR;Gene=GPATCH4/NM_182679.2/1;CC=c.*83G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:57:0:0:67:2146:246.42:175.35:71.07:1.00:1.00:1.00:60:45.9:0:0:51:96:34:NM_015590.3(GPATCH4) c.*83G>A,NM_015590.3(GPATCH4) c.*83G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 156565049 rs77528517 A AAC 449 PASS VT=INS;SST=Single;DP=142;DB;DBA=NA;PAF=A/0.005791,AAC/0.9942,ACA/.;DB;DBA=NA;PAF=NA;NP=3028;Gene=GPATCH4/NM_015590.3/0;CC=c.1083_1084insGT;ProtCh=p.F362Vfs*91;VC=FrameShiftIns;Gene=GPATCH4/NM_182679.2/1;CC=c.1068_1069insGT;ProtCh=p.F357Vfs*91;VC=FrameShiftIns;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A,C,AAC:140:106:130:0:9,3,128:251,88,4085:0.00,5.15,448.91:0.00,5.20,280.70:0.00,-0.06,168.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:25.7,83.0,8.9:2,2,2:0,0,0:111,129,59:2,22,87:24,8,35:NM_015590.3(GPATCH4) c.1083_1084insGT (p.Phe362Valfs*91),NM_015590.3(GPATCH4) c.1083_1084insGT (p.Phe362Valfs*91):NOT_FOUND,NOT_FOUND:0.991294,0.991294 1 156565642 . C . . NT END=156565872;NT GT ./. 1 156565924 . C . . NT END=156566178;NT GT ./. 1 156566111 rs6666910 T C 64 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.9601,C/0.03994;Gene=GPATCH4/NM_015590.3/0;CC=c.440+68A>G;VC=Intron;Gene=GPATCH4/NM_182679.2/1;CC=c.425+68A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:23:0:0:22,17:648,529:63.66,0.00:41.30,0.00:22.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,8.6:0,0:0,0:62,103:88,48:27,37:NM_015590.3(GPATCH4) c.440+68A>G,-:0.06,-:NOT_FOUND,- 1 156566271 . C . . NT END=156567826;NT GT ./. 1 156567914 . C . . NT END=156568018;NT GT ./. 1 156568112 . C . . NT END=156568212;NT GT ./. 1 156568287 . C . . NT END=156568759;NT GT ./. 1 156568897 . C . . NT END=156571200;NT GT ./. 1 156571241 . C . . NT END=156593282;NT GT ./. 1 156593911 . G A 195 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=148;PC=1.000;Gene=HAPLN2/NM_021817.2/1;CC=c.398G>A;ProtCh=p.G133D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:148:77:0:0:66,82:2074,2603:194.70,0.00:65.95,0.00:128.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:36.1,10.3:0,0:0,0:89,80:54,64:28,34:NM_021817.2(HAPLN2) c.398G>A (p.Gly133Asp),-:NOT_FOUND,-:NOT_FOUND,- 1 156593953 . G . . NT END=156594142;NT GT ./. 1 156594260 . G . . NT END=156594392;NT GT ./. 1 156594576 . G . . NT END=156594892;NT GT ./. 1 156594656 rs12567958 C A 252 nt VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.5347,A/0.4653;Gene=HAPLN2/NM_021817.2/1;CC=c.739+81C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:75:16:0:0:74,1:2187,13:251.80,0.00:37.97,0.00:213.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,24.0:0,0:0,0:111,65:39,86:28,0:NM_021817.2(HAPLN2) c.739+81C>A,NM_021817.2(HAPLN2) c.739+81C>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 156595177 . G . . NT END=156615846;NT GT ./. 1 156615938 . G . . NT END=156616592;NT GT ./. 1 156616442 rs368082583 ACCCTGGC A 48 nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=59;PC=0.080;Gene=BCAN/NM_198427.1/0;CC=c.92-130_92-124delCCCCTGG;VC=Intron;Gene=BCAN/NM_021948.4/1;CC=c.92-130_92-124delCCCCTGG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACCCTGGC,A:33:33:0:15:18,15:577,506:0.00,47.88:0.00,46.38:0.00,1.50:0.00,1.00:0.00,1.00:0.00,0.85:60,60:12.7,8.3:0,0:0,0:44,41:106,109:27,27:-,NM_021948.4(BCAN) c.92-150_92-144delCCCTGGC:-,NOT_FOUND:-,NOT_FOUND 1 156616968 . G . . NT END=156617299;NT GT ./. 1 156617475 . G . . NT END=156617774;NT GT ./. 1 156617903 . G . . NT END=156618359;NT GT ./. 1 156617968 rs2277873 G A 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.6406,A/0.3594;Gene=BCAN/NM_198427.1/0;CC=c.769+66G>A;VC=Intron;Gene=BCAN/NM_021948.4/1;CC=c.769+66G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:13:0:0:19,16:629,439:61.53,0.00:16.36,0.00:45.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,10.8:0,0:0,0:110,96:33,50:25,29:NM_021948.4(BCAN) c.769+66G>A,-:0.32,-:NOT_FOUND,- 1 156618654 . G . . NT END=156621247;NT GT ./. 1 156618768 rs4661209 T G 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.3896,G/0.6104;PC=0.274;Gene=BCAN/NM_198427.1/0;CC=c.1063+115T>G;VC=Intron;Gene=BCAN/NM_021948.4/1;CC=c.1063+115T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:18:0:0:0:8,10:255,342:23.95,0.00:0.00,0.00:23.95,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:31.9,0.7:0,0:0,0:105,115:44,35:32,21:NM_021948.4(BCAN) c.1063+115T>G,-:0.54,-:NOT_FOUND,- 1 156621482 . G . . NT END=156622039;NT GT ./. 1 156622252 rs1056695 G A 195 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.6258,A/0.3742;PC=0.997;Gene=BCAN/NM_198427.1/0;CC=c.1510G>A;ProtCh=p.E504K;VC=Missense;Gene=BCAN/NM_021948.4/1;CC=c.1510G>A;ProtCh=p.E504K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:119:88:0:0:63,55,1:2007,1740,8:195.42,0.00,-0.14:100.26,0.00,-0.11:95.16,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.2,12.1,87.0:0,0,0:0,0,0:82,45,137:61,106,14:31,31,0:NM_021948.4(BCAN) c.1510G>A (p.Glu504Lys),-:0.33,-:0.338953,- 1 156623265 . G . . NT END=156626073;NT GT ./. 1 156626182 . G . . NT END=156626729;NT GT ./. 1 156626340 rs11582013 C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9591,G/0.04093;PC=0.010;Gene=BCAN/NM_021948.4/1;CC=c.2050+159C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,G:9:1:0:0:5,4:170,138:0.00,13.02:0.00,-0.26:0.00,13.28:0.00,0.85:0.00,0.63:0.00,0.98:60,60:31.6,46.8:0,0:0,0:60,100:91,47:50,29:-,NM_021948.4(BCAN) c.2050+159C>G:-,0.06:-,NOT_FOUND 1 156626358 rs6700323 C A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4199,A/0.5801;Gene=BCAN/NM_021948.4/1;CC=c.2050+177C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C:6:1:0:0:3,3:99,106:9.52,0.00:3.48,0.00:6.05,0.00:0.73,0.00:0.67,0.00:0.96,0.00:60,60:33.0,51.0:0,0:0,0:45,97:106,54:17,38:NM_021948.4(BCAN) c.2050+177C>A,-:0.51,-:NOT_FOUND,- 1 156626508 rs34478535 C G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8283,G/0.1717;Gene=BCAN/NM_021948.4/1;CC=c.2051-222C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,G:9:9:0:0:4,5:132,140:0.00,13.68:0.00,13.68:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:23.2,47.0:0,0:0,0:37,73:113,78:23,16:-,NM_021948.4(BCAN) c.2051-222C>G:-,0.18:-,NOT_FOUND 1 156626889 . G . . NT END=156627466;NT GT ./. 1 156626920 rs7524611 T C 282 nt VT=SNV;PN=C;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;Gene=BCAN/NM_021948.4/1;CC=c.2209+32T>C;VC=Intron;DM=BCAN/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:82:35:0:0:81,1:2458,11:282.30,0.00:82.58,0.00:199.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,175.0:0,0:0,0:115,41:32,109:22,0:NM_021948.4(BCAN) c.2209+32T>C,NM_021948.4(BCAN) c.2209+32T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 156627550 . G . . NT END=156627918;NT GT ./. 1 156628064 . G . . NT END=156628334;NT GT ./. 1 156628526 . G . . NT END=156628818;NT GT ./. 1 156628717 rs951964 C A 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.5266,A/0.4734;Gene=BCAN/NM_021948.4/1;CC=c.2629-102C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:38:27:0:0:19,19:609,599:58.53,0.00:37.61,0.00:20.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.1,0.9:0,0:0,0:94,73:55,75:46,40:NM_021948.4(BCAN) c.2629-102C>A,-:0.42,-:NOT_FOUND,- 1 156628927 . G . . NT END=156639113;NT GT ./. 1 156629037 rs11360 A G 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4567,G/0.5433;PC=0.361;Gene=BCAN/NM_021948.4/1;CC=c.*111A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:0:0:0:12,7:358,211:0.00,19.00:0.00,0.00:0.00,19.00:0.00,0.98:0.00,0.00:0.00,0.98:60,60:11.6,38.6:0,0:0,0:98,120:53,29:29,13:-,NM_021948.4(BCAN) c.*111A>G:-,0.48:-,NOT_FOUND 1 156638495 rs6427326 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.231,G/0.769 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:7:0:0:0:3,4:95,128:0.00,12.63:0.00,0.00:0.00,12.63:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,38.5:0,0:0,0:80,51:63,91:7,19:-,chr1 g.156638494A>G (intergenic):-,0.76:-,NOT_FOUND 1 156639753 rs11582300 G A 235 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.3816,A/0.6184;PC=0.014;Gene=NES/NM_006617.1/1;CC=c.4227C>T;ProtCh=p.S1409=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:149:81:0:0:81,1,67:2405,6,1976:234.66,-0.18,0.00:105.16,-0.09,0.00:129.50,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.4,39.0,9.8:0,0,0:0,0,0:60,5,58:90,146,93:31,0,39:NM_006617.1(NES) c.4227C>T (p.(=)),-:0.65,-:0.544776,- 1 156640156 rs3748570 G A 315 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=199;DB;DBA=NA;PAF=G/0.2756,A/0.7244;PC=0.964;Gene=NES/NM_006617.1/1;CC=c.3824C>T;ProtCh=p.P1275L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:199:140:0:0:104,1,94:3253,5,2783:315.31,-0.19,0.00:153.97,-0.12,0.00:161.34,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,145.0,14.8:0,0,0:0,0,0:66,63,68:80,86,80:35,0,38:NM_006617.1(NES) c.3824C>T (p.Pro1275Leu),-:0.73,-:0.659849,- 1 156640678 rs2886443 G A 194 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=G/0.3778,A/0.6222;Gene=NES/NM_006617.1/1;CC=c.3302C>T;ProtCh=p.P1101L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:145:59:0:0:68,10,66,1:2020,127,1979,34:193.82,4.87,0.00,1.53:48.25,5.91,0.00,1.66:145.57,-1.04,0.00,-0.13:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:53.4,53.1,8.3,94.0:0,0,0,0:0,0,0,0:50,105,71,95:94,38,69,18:36,24,36,0:NM_006617.1(NES) c.3302C>T (p.Pro1101Leu),-:0.65,-:0.558878,- 1 156641537 rs951781 C T 171 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.7957,T/0.2043;Gene=NES/NM_006617.1/1;CC=c.2443G>A;ProtCh=p.V815I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:60:0:0:45,55:1430,1747:0.00,170.95:0.00,67.25:0.00,103.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,36.3:0,0:0,0:85,63:64,84:26,33:-,NM_006617.1(NES) c.2443G>A (p.Val815Ile):-,0.21:-,0.265339 1 156642998 . C . . NT END=156643245;NT GT ./. 1 156643320 . C . . NT END=156645007;NT GT ./. 1 156645133 . C . . NT END=156646273;NT GT ./. 1 156646668 rs4278369 A G 618 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=169;DB;DBA=NA;PAF=A/0.001597,G/0.9984;PC=0.167;Gene=NES/NM_006617.1/1;CC=c.389T>C;ProtCh=p.V130A;VC=Missense;DM=NES/Filament GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:169:116:0:0:168,1:5390,11:618.10,0.08:315.29,0.00:302.81,0.08:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,140.0:0,0:0,0:63,14:81,137:37,0:NM_006617.1(NES) c.389T>C (p.Val130Ala),NM_006617.1(NES) c.389T>C (p.Val130Ala):0.99,0.99:0.998122,0.998122 1 156647057 . C . . NT END=156669817;NT GT ./. 1 156647175 . C G 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;PC=0.141;Gene=NES/NM_006617.1/1;CC=c.-119G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,C,G:10:1:0:0:1,3,6:15,96,152:0.87,0.00,15.51:-0.05,0.00,-0.40:0.91,0.00,15.91:0.00,0.00,0.99:0.00,0.00,0.73:0.00,0.00,1.00:60,60,60:68.0,8.0,122.3:0,0,0:0,0,0:2,124,77:149,26,55:0,20,22:-,NM_006617.1(NES) c.-119G>C:-,NOT_FOUND:-,NOT_FOUND 1 156669869 . C . . NT END=156670333;NT GT ./. 1 156670451 . C . . NT END=156670665;NT GT ./. 1 156670545 rs4661213 C T 185 nt VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.08686,T/0.9131;Gene=CRABP2/NM_001878.3/0;CC=c.250-95G>A;VC=Intron;Gene=CRABP2/NM_001199723.1/1;CC=c.250-95G>A;VC=Intron;DM=CRABP2/Lipocalin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:T:53:28:0:0:53:1601:185.20:95.12:90.08:1.00:1.00:1.00:60:43.0:0:0:85:66:41:NM_001878.3(CRABP2) c.250-95G>A,NM_001878.3(CRABP2) c.250-95G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 156670845 . C . . NT END=156675168;NT GT ./. 1 156670983 rs7519545 T C 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.008586,C/0.9914;NP=2069;Gene=CRABP2/NM_001878.3/0;CC=c.71-139A>G;VC=Intron;Gene=CRABP2/NM_001199723.1/1;CC=c.71-139A>G;VC=Intron;DM=CRABP2/Lipocalin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:0:0:0:22:641:74.56:0.00:74.56:1.00:0.00:1.00:60:36.5:0:0:119:31:27:NM_001878.3(CRABP2) c.71-139A>G,NM_001878.3(CRABP2) c.71-139A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156675239 . G . . NT END=156693140;NT GT ./. 1 156693135 rs1133856 C T 90 nt VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.9892,G/.,T/0.01078;Gene=ISG20L2/NM_001303095.1/1;CC=c.*6G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:49:0:0:28,31:939,935:0.00,90.48:0.00,60.71:0.00,29.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,46.1:0,0:0,0:49,42:95,103:34,31:-,NM_030980.1(ISG20L2) c.=:-,0.01:-,0.035753 1 156693631 . A . . NT END=156693939;NT GT ./. 1 156694141 . C . . NT END=156694315;NT GT ./. 1 156694517 . A . . NT END=156695752;NT GT ./. 1 156696235 . g . . NT END=156696454;NT GT ./. 1 156697938 . A . . NT END=156698005;NT GT ./. 1 156698265 rs3806415 C T 715 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=201;DB;DBA=NA;PAF=C/0.8031,T/0.1969;PC=0.010;Gene=RRNAD1/NM_001142560.1/0;CC=c.-632C>T;VC=5UTR;Gene=RRNAD1/NM_015997.3/1;CC=c.-632C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:201:111:0:0:1,200:14,6206:0.13,715.03:0.00,288.06:0.13,426.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,44.1:0,0:0,0:75,80:74,65:0,36:NM_015997.3(RRNAD1) c.-632C>T,NM_015997.3(RRNAD1) c.-632C>T:0.21,0.21:NOT_FOUND,NOT_FOUND 1 156698423 . g . . NT END=156698896;NT GT ./. 1 156699008 . G . . NT END=156701782;NT GT ./. 1 156701908 . G . . NT END=156702072;NT GT ./. 1 156702266 . G . . NT END=156702776;NT GT ./. 1 156702840 . G . . NT END=156703168;NT GT ./. 1 156702950 . AT A 7 rn VT=DEL;SST=Single;DP=28;NP=6;PC=0.003;Gene=RRNAD1/NM_001142560.1/0;CC=c.492+121delT;VC=Intron;Gene=RRNAD1/NM_015997.3/1;CC=c.492+121delT;VC=Intron;DM=RRNAD1/Methyltransf_32;DM=RRNAD1/Methyltransf_32;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:AT,A:28:7:0:3:25,3:788,94:0.00,6.70:0.00,2.04:0.00,4.66:0.00,0.44:0.00,0.51:0.00,0.83:60,60:10.4,10.0:0,0:0,0:101,75:48,75:29,33:-,NM_015997.3(RRNAD1) c.492+112delT:-,NOT_FOUND:-,NOT_FOUND 1 156703313 . G . . NT END=156703800;NT GT ./. 1 156703456 rs10908518 G C 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.03814,C/0.9619;Gene=RRNAD1/NM_001142560.1/0;CC=c.636+144G>C;VC=Intron;Gene=RRNAD1/NM_015997.3/1;CC=c.636+144G>C;VC=Intron;DM=RRNAD1/Methyltransf_32;DM=RRNAD1/Methyltransf_32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:2:0:0:18:574:65.98:7.95:58.03:1.00:1.00:1.00:60:35.1:0:0:106:45:31:NM_015997.3(RRNAD1) c.636+144G>C,NM_015997.3(RRNAD1) c.636+144G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 156704286 . G . . NT END=156705516;NT GT ./. 1 156704328 rs374459605 C CT 31 idl,rn VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=NA;Gene=RRNAD1/NM_001142560.1/0;CC=c.636+1029_636+1030insT;VC=Intron;Gene=RRNAD1/NM_015997.3/1;CC=c.1121+56_1121+57insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,CT,D:82:50:14:9:63,12,7:2067,459,288:0.00,30.66,15.70:0.00,12.98,3.16:0.00,17.68,12.54:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:16.2,10.2,32.0:0,2,2:0,0,0:110,79,110:35,60,41:26,23,19:-,NM_015997.3(RRNAD1) c.1121+43_1121+44insT:-,NOT_FOUND:-,NOT_FOUND 1 156705593 rs4311877 G C 370 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.02895,C/0.971;PC=1.000;Gene=RRNAD1/NM_001142560.1/0;CC=c.713G>C;ProtCh=p.R238P;VC=Missense;Gene=RRNAD1/NM_015997.3/1;CC=c.1198G>C;ProtCh=p.V400L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:98:81:0:0:1,97:10,3240:0.10,369.76:0.00,207.58:0.10,162.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:78.0,37.9:0,0:0,0:21,64:128,86:0,35:NM_015997.3(RRNAD1) c.1198G>C (p.Val400Leu),NM_015997.3(RRNAD1) c.1198G>C (p.Val400Leu):0.97,0.97:0.972628,0.972628 1 156705702 . G . . NT END=156706410;NT GT ./. 1 156705822 rs12161427 C T 76 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8085,T/0.1915;PC=0.003;Gene=RRNAD1/NM_001142560.1/0;CC=c.821+121C>T;VC=Intron;Gene=RRNAD1/NM_015997.3/1;CC=c.1306+121C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:1:0:0:21:663:76.28:3.68:72.61:1.00:1.00:1.00:60:34.9:0:0:95:56:28:NM_015997.3(RRNAD1) c.1306+121C>T,NM_015997.3(RRNAD1) c.1306+121C>T:0.21,0.21:NOT_FOUND,NOT_FOUND 1 156706556 . G . . NT END=156707189;NT GT ./. 1 156706559 rs8658 A G 200 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=RRNAD1/NM_001142560.1/0;CC=c.*123A>G;VC=3UTR;Gene=RRNAD1/NM_015997.3/1;CC=c.*14A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G:52:28:0:0:52:1754:200.20:69.77:130.43:1.00:1.00:1.00:60:38.3:0:0:96:48:23:NM_015997.3(RRNAD1) c.*14A>G,NM_015997.3(RRNAD1) c.*14A>G:NOT_FOUND,NOT_FOUND:0.716054,0.716054 1 156707327 . C . . NT END=156707437;NT GT ./. 1 156707569 . C . . NT END=156707822;NT GT ./. 1 156707775 rs6670122 T G 154 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.03834,G/0.9617;Gene=MRPL24/NM_024540.3/0;CC=c.383+48A>C;VC=Intron;Gene=MRPL24/NM_145729.2/1;CC=c.383+48A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:C,G,T:44:32:0:0:1,42,1:12,1358,12:0.29,153.71,0.00:0.29,97.18,0.00:0.00,56.54,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:55.0,46.3,0.0:0,0,0:0,0,0:104,63,150:47,87,1:0,44,0:NM_145729.2(MRPL24) c.383+48A>C,NM_145729.2(MRPL24) c.383+48A>C:0.97,0.97:0.965477,0.965477 1 156707927 . C . . NT END=156708134;NT GT ./. 1 156708231 . C . . NT END=156708313;NT GT ./. 1 156708497 . G . . NT END=156713240;NT GT ./. 1 156713248 . C . . NT END=156713443;NT GT ./. 1 156713512 rs4437869 C T 246 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.03794,T/0.9621;PC=0.653;Gene=HDGF/NM_004494.2/0;CC=c.648G>A;ProtCh=p.E216=;VC=Silent;Gene=HDGF/NM_001126051.1/1;CC=c.627G>A;ProtCh=p.E209=;VC=Silent;Gene=HDGF/NM_001126050.1/0;CC=c.696G>A;ProtCh=p.E232=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:A,T:66:50:0:0:1,65:10,2156:0.14,246.10:0.14,134.79:0.00,111.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.0,58.5:0,0:0,0:47,75:104,60:0,35:NM_001126050.1(HDGF) c.=,NM_001126050.1(HDGF) c.=:0.97,0.97:0.965247,0.965247 1 156713558 rs4399146 G A 272 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.8079,A/0.1921,C/.,T/.;PC=0.751;Gene=HDGF/NM_004494.2/0;CC=c.602C>T;ProtCh=p.P201L;VC=Missense;Gene=HDGF/NM_001126051.1/1;CC=c.581C>T;ProtCh=p.P194L;VC=Missense;Gene=HDGF/NM_001126050.1/0;CC=c.650C>T;ProtCh=p.P217L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:72:51:0:0:72:2380:272.24:127.64:144.60:1.00:1.00:1.00:60:61.5:0:0:57:88:32:NM_001126050.1(HDGF) c.650C>T (p.Pro217Leu),NM_001126050.1(HDGF) c.650C>T (p.Pro217Leu):0.21,0.21:0.266416,0.266416 1 156713671 . C . . NT END=156713954;NT GT ./. 1 156714162 . C . . NT END=156714292;NT GT ./. 1 156714363 . C . . NT END=156714799;NT GT ./. 1 156714939 . C . . NT END=156715088;NT GT ./. 1 156715166 . C . . NT END=156721134;NT GT ./. 1 156721032 rs12030654 T A 185 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.8117,A/0.1883;PC=0.519;Gene=HDGF/NM_004494.2/0;CC=c.87+103A>T;VC=Intron;Gene=HDGF/NM_001126051.1/1;CC=c.66+798A>T;VC=Intron;Gene=HDGF/NM_001126050.1/0;CC=c.135+989A>T;VC=Intron;DM=HDGF/PWWP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:A,C,T:55:50:0:0:52,2,1:1626,15,34:184.75,0.32,0.00:143.42,0.17,0.00:41.33,0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.5,111.0,41.0:0,0,0:0,0,0:44,77,18:106,74,133:26,55,0:NM_001126050.1(HDGF) c.135+989A>T,NM_001126050.1(HDGF) c.135+989A>T:0.21,0.21:NOT_FOUND,NOT_FOUND 1 156721544 . c . . NT END=156721829;NT GT ./. 1 156722156 . T . . NT END=156737563;NT GT ./. 1 156722424 rs11264535 G C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8067,C/0.1933;PC=0.058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:172:20.06:0.00:20.06:1.00:0.00:1.00:60:37.3:0:0:121:29:26:NM_001126050.1(HDGF) c.-85-u184C>G,NM_001126050.1(HDGF) c.-85-u184C>G:0.21,0.21:NOT_FOUND,NOT_FOUND 1 156738032 . G . . NT END=156752073;NT GT ./. 1 156752122 . G . . NT END=156756399;NT GT ./. 1 156752252 rs2274501 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8433,A/0.1567;Gene=PRCC/NM_005973.4/1;CC=c.516+131G>A;VC=Intron;DM=PRCC/PRCC;DM=PRCC/PRCC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:235:26.84:0.00:26.84:1.00:0.00:1.00:60:36.1:0:0:65:86:31:NM_005973.4(PRCC) c.516+131G>A,NM_005973.4(PRCC) c.516+131G>A:0.15,0.15:NOT_FOUND,NOT_FOUND 1 156756967 . G . . NT END=156760858;NT GT ./. 1 156760955 . G . . NT END=156761488;NT GT ./. 1 156761585 . G . . NT END=156764456;NT GT ./. 1 156761618 rs2644615 C T 126 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8444,T/0.1556;PC=0.001;Gene=PRCC/NM_005973.4/1;CC=c.1179+34C>T;VC=Intron;DM=PRCC/PRCC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:12:0:0:37:1085:125.93:24.67:101.27:1.00:1.00:1.00:60:37.7:0:0:102:45:41:NM_005973.4(PRCC) c.1179+34C>T,NM_005973.4(PRCC) c.1179+34C>T:0.15,0.15:0.204829,0.204829 1 156764601 . G . . NT END=156767067;NT GT ./. 1 156767134 . G . . NT END=156770165;NT GT ./. 1 156770253 . G . . NT END=156776969;NT GT ./. 1 156776717 rs928391 T C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8347,C/0.1653;PC=1.000;Gene=SH2D2A/NM_001161443.1/0;CC=c.*3+250A>G;VC=Intron;Gene=SH2D2A/NM_001161441.1/0;CC=c.*3+250A>G;VC=Intron;Gene=SH2D2A/NM_001161442.1/0;CC=c.*3+250A>G;VC=Intron;Gene=SH2D2A/NM_003975.3/1;CC=c.*3+250A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:133:16.10:16.10:0.00:1.00:1.00:0.00:60:81.8:0:0:44:105:17:NM_003975.3(SH2D2A) c.*3+250A>G,NM_003975.3(SH2D2A) c.*3+250A>G:0.16,0.16:NOT_FOUND,NOT_FOUND 1 156777138 . C . . NT END=156778994;NT GT ./. 1 156779283 . C . . NT END=156779452;NT GT ./. 1 156779600 . C . . NT END=156783639;NT GT ./. 1 156783809 . C . . NT END=156783996;NT GT ./. 1 156784117 . C . . NT END=156784828;NT GT ./. 1 156785014 . C . . NT END=156785621;NT GT ./. 1 156785356 rs2150906 T C 33 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1767,C/0.8233;Gene=SH2D2A/NM_001161443.1/0;CC=c.40-343A>G;VC=Intron;Gene=SH2D2A/NM_001161441.1/0;CC=c.124-343A>G;VC=Intron;Gene=SH2D2A/NM_001161442.1/0;CC=c.70-343A>G;VC=Intron;Gene=SH2D2A/NM_003975.3/1;CC=c.124-343A>G;VC=Intron;Gene=SH2D2A/NM_001161444.1/0;CC=c.124-343A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:8:0:0:9:290:33.27:31.52:1.75:1.00:1.00:1.00:60:37.3:0:0:89:61:13:NM_003975.3(SH2D2A) c.124-343A>G,NM_003975.3(SH2D2A) c.124-343A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 156785631 . G . . NT END=156785797;NT GT ./. 1 156785940 . T . . NT END=156786466;NT GT ./. 1 156786501 . G . . NT END=156810664;NT GT ./. 1 156810897 . C . . NT END=156811185;NT GT ./. 1 156811321 . C . . NT END=156811456;NT GT ./. 1 156811587 . C . . NT END=156811872;NT GT ./. 1 156812064 . C . . NT END=156812189;NT GT ./. 1 156812301 . C . . NT END=156812795;NT GT ./. 1 156813026 . C . . NT END=156813218;NT GT ./. 1 156813272 . C . . NT END=156813966;NT GT ./. 1 156814073 . C . . NT END=156814253;NT GT ./. 1 156814417 . C . . NT END=156814498;NT GT ./. 1 156814636 . C . . NT END=156814867;NT GT ./. 1 156815089 . C . . NT END=156815163;NT GT ./. 1 156815206 . C . . NT END=156815410;NT GT ./. 1 156815607 . C . . NT END=156815743;NT GT ./. 1 156815912 . C . . NT END=156816310;NT GT ./. 1 156815921 rs12064115 C T 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.8952,A/.,T/0.1048;Gene=NTRK1/NM_001007792.1/0;CC=c.122+3936C>T;VC=Intron;Gene=INSRR/NM_014215.2/1;CC=c.1811-10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:37:0:0:42,28:1336,911:0.00,84.00:0.00,20.89:0.00,63.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,44.4:0,0:0,0:109,86:39,64:22,21:-,NM_001007792.1(NTRK1) c.122+3936C>T:-,0.1:-,0.103183 1 156816550 . C . . NT END=156818712;NT GT ./. 1 156816612 rs61813769 G C 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.8936,A/.,C/0.1064;Gene=NTRK1/NM_001007792.1/0;CC=c.122+4627G>C;VC=Intron;Gene=INSRR/NM_014215.2/1;CC=c.1572-63C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:42:11:0:0:16,26:468,868:42.28,0.00:4.04,0.00:38.24,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:49.3,13.2:0,0:0,0:112,110:36,40:21,16:NM_001007792.1(NTRK1) c.122+4627G>C,-:0.1,-:NOT_FOUND,- 1 156818840 . C . . NT END=156819037;NT GT ./. 1 156819253 . C . . NT END=156821081;NT GT ./. 1 156820814 rs12140486 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9708,C/0.02915;PC=0.001;Gene=NTRK1/NM_001007792.1/0;CC=c.122+8829T>C;VC=Intron;Gene=INSRR/NM_014215.2/1;CC=c.1229+268A>G;VC=Intron;DM=INSRR/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,T:4:4:0:0:3,1:94,9:9.91,0.00:9.91,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:39.0,36.0:0,0:0,0:19,10:130,140:19,0:NM_001007792.1(NTRK1) c.122+8829T>C,-:0.03,-:NOT_FOUND,- 1 156821227 . C . . NT END=156821437;NT GT ./. 1 156821581 . C . . NT END=156821679;NT GT ./. 1 156821984 . C . . NT END=156823543;NT GT ./. 1 156824096 . C . . NT END=156828328;NT GT ./. 1 156828414 . T . . NT END=156830631;NT GT ./. 1 156828454 rs12129392 C A 78 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9573,A/0.04273,T/.;PC=0.021;Gene=NTRK1/NM_001007792.1/0;CC=c.123-5692C>A;VC=Intron;Gene=INSRR/NM_014215.2/1;CC=c.-41G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:44:21:0:0:24,20:796,575:78.00,0.00:28.45,0.00:49.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,8.2:0,0:0,0:107,113:42,37:18,22:NM_014215.2(INSRR) c.-41G>T,-:0.04,-:0.041987,- 1 156830939 . G . . NT END=156834145;NT GT ./. 1 156831060 rs140662359 ACGCAGCCTTCGGCGCTGCCCGGGCGTTCCTC A 29 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=ACGCAGCCTTCGGCGCTGCCCGGGCGTTCCTC/0.8932,A/0.1068;NP=52;Gene=NTRK1/NM_001007792.1/0;CC=c.123-3078_123-3048delTTCGGCGCTGCCCGGGCGTTCCTCCGCAGCC;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.212+130_212+160delTTCGGCGCTGCCCGGGCGTTCCTCCGCAGCC;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.212+130_212+160delTTCGGCGCTGCCCGGGCGTTCCTCCGCAGCC;VC=Intron;DM=NTRK1/LRR_8;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACGCAGCCTTCGGCGCTGCCCGGGCGTTCCTC,A:38:1:0:11:27,11:833,337:0.00,29.02:0.00,-0.07:0.00,29.09:0.00,1.00:0.00,0.53:0.00,1.00:60,60:3.7,18.8:0,0:0,0:121,89:9,62:20,15:-,NM_001007792.1(NTRK1) c.123-3085_123-3055delCGCAGCCTTCGGCGCTGCCCGGGCGTTCCTC:-,NOT_FOUND:-,NOT_FOUND 1 156834221 . G . . NT END=156834519;NT GT ./. 1 156834269 rs1800878 G T 75 nt VT=SNV;PN=G;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.9631,T/0.03694;PC=0.015;Gene=NTRK1/NM_001007792.1/0;CC=c.197+49G>T;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.287+49G>T;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.287+49G>T;VC=Intron;DM=NTRK1/LRR_8;DM=NTRK1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:52:32:0:0:1,26,25:11,834,781:-0.00,0.00,74.67:0.16,0.00,35.43:-0.16,0.00,39.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:47.0,18.7,34.0:0,0,0:0,0,0:123,110,98:26,41,50:0,16,23:-,NM_001007792.1(NTRK1) c.197+49G>T:-,0.04:-,0.030371 1 156834592 . G . . NT END=156836701;NT GT ./. 1 156836771 . G . . NT END=156837895;NT GT ./. 1 156836838 rs2274497 T C 60 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8456,C/0.1544;Gene=NTRK1/NM_001007792.1/0;CC=c.338+68T>C;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.428+68T>C;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.428+68T>C;VC=Intron;DM=NTRK1/LRR_8;DM=NTRK1/TPKR_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:6:0:0:20,8:575,274:59.64,0.00:10.62,0.00:49.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,4.2:0,0:0,0:102,108:49,39:25,15:NM_001007792.1(NTRK1) c.338+68T>C,-:0.15,-:0.138414,- 1 156836967 rs11264577 A G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8572,G/0.1428;PC=0.003;Gene=NTRK1/NM_001007792.1/0;CC=c.338+197A>G;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.428+197A>G;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.428+197A>G;VC=Intron;DM=NTRK1/LRR_8;DM=NTRK1/TPKR_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:6:0:0:0:3,3:86,99:0.00,9.53:0.00,0.00:0.00,9.53:0.00,0.73:0.00,0.00:0.00,0.73:60,60:35.0,44.0:0,0:0,0:25,71:87,80:10,14:-,NM_001007792.1(NTRK1) c.338+197A>G:-,0.13:-,NOT_FOUND 1 156838042 . G . . NT END=156838296;NT GT ./. 1 156838141 rs1800879 T C 288 nt VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.2883,C/0.7117;Gene=NTRK1/NM_001007792.1/0;CC=c.484+100T>C;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.574+100T>C;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.574+100T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:87:45:0:0:84,1,2:2522,8,43:288.07,0.06,0.00:141.68,-0.01,0.00:146.40,0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.9,61.0,44.5:0,0,0:0,0,0:80,42,55:70,83,95:44,0,26:NM_001007792.1(NTRK1) c.484+100T>C,NM_001007792.1(NTRK1) c.484+100T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 156838440 . G . . NT END=156841414;NT GT ./. 1 156841259 rs2644614 A C 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.02216,C/0.9778;PC=0.001;Gene=NTRK1/NM_001007792.1/0;CC=c.628-156A>C;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.718-156A>C;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.718-156A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:20:0:0:20:637:73.19:73.19:0.00:1.00:1.00:0.00:60:65.8:0:0:35:116:13:NM_001007792.1(NTRK1) c.628-156A>C,NM_001007792.1(NTRK1) c.628-156A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156841548 . G . . NT END=156843424;NT GT ./. 1 156843752 . G . . NT END=156844174;NT GT ./. 1 156844193 . G . . NT END=156844362;NT GT ./. 1 156844419 . G . . NT END=156844697;NT GT ./. 1 156844801 . G . . NT END=156845311;NT GT ./. 1 156845459 . G . . NT END=156845862;NT GT ./. 1 156845492 . AGTGTGTGTGTGT A 51 idl,nt VT=DEL;SST=Single;DP=71;NP=1;Gene=NTRK1/NM_001007792.1/0;CC=c.1393+59_1393+70delGTGTGTGTGTGT;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.1483+59_1483+70delGTGTGTGTGTGT;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.1501+59_1501+70delGTGTGTGTGTGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTGTGTGTGTGT,I,A:62:41:15:24:32,11,19:1039,426,701:0.00,27.41,50.67:0.00,11.01,27.01:0.00,16.40,23.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.4,21.0,19.7:0,4,5:0,0,0:119,45,74:24,104,70:15,24,20:-,NM_001007792.1(NTRK1) c.1393+35_1393+46delGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 156846003 . G . . NT END=156846191;NT GT ./. 1 156846233 rs6334 G A 208 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.7871,A/0.2129,C/.;PC=0.937;Gene=NTRK1/NM_001007792.1/0;CC=c.1566G>A;ProtCh=p.Q522=;VC=Silent;Gene=NTRK1/NM_001012331.1/0;CC=c.1656G>A;ProtCh=p.Q552=;VC=Silent;Gene=NTRK1/NM_002529.3/1;CC=c.1674G>A;ProtCh=p.Q558=;VC=Silent;DM=NTRK1/Pkinase_Tyr;DM=NTRK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:149:102:0:0:69,1,79:2198,9,2738:208.30,-0.18,0.00:85.67,-0.12,0.00:122.62,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.1,67.0,5.9:0,0,0:0,0,0:71,90,63:75,61,82:36,0,34:NM_001007792.1(NTRK1) c.1566G>A (p.(=)),-:0.21,-:0.193603,- 1 156846365 . G . . NT END=156848913;NT GT ./. 1 156848794 rs2768756 C T 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6807,T/0.3193;Gene=NTRK1/NM_001007792.1/0;CC=c.1698-120C>T;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.1788-120C>T;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.1806-120C>T;VC=Intron;DM=NTRK1/Pkinase_Tyr;DM=NTRK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:27:0:0:15,12:517,327:0.00,30.29:0.00,28.66:0.00,1.63:0.00,1.00:0.00,1.00:0.00,0.74:60,60:38.9,83.9:0,0:0,0:57,43:94,101:25,26:-,NM_001007792.1(NTRK1) c.1698-120C>T:-,0.38:-,NOT_FOUND 1 156848808 rs2768757 T C 127 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.3714,C/0.6286;Gene=NTRK1/NM_001007792.1/0;CC=c.1698-106T>C;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.1788-106T>C;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.1806-106T>C;VC=Intron;DM=NTRK1/Pkinase_Tyr;DM=NTRK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:34:0:0:34:1105:126.64:122.56:4.08:1.00:1.00:1.00:60:58.2:0:0:47:102:34:NM_001007792.1(NTRK1) c.1698-106T>C,NM_001007792.1(NTRK1) c.1698-106T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 156848995 rs6337 C T 281 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=C/0.6659,T/0.3341;Gene=NTRK1/NM_001007792.1/0;CC=c.1779C>T;ProtCh=p.A593=;VC=Silent;Gene=NTRK1/NM_001012331.1/0;CC=c.1869C>T;ProtCh=p.A623=;VC=Silent;Gene=NTRK1/NM_002529.3/1;CC=c.1887C>T;ProtCh=p.A629=;VC=Silent;DM=NTRK1/Pkinase_Tyr;DM=NTRK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:167:122:0:0:1,78,88:32,2430,2893:1.27,0.00,281.37:-0.10,0.00,158.37:1.37,0.00,123.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.0,6.9,44.3:0,0,0:0,0,0:150,85,74:1,61,75:0,33,32:-,NM_001007792.1(NTRK1) c.1779C>T (p.(=)):-,0.4:-,0.556829 1 156849155 . G . . NT END=156849790;NT GT ./. 1 156849950 . G . . NT END=156851248;NT GT ./. 1 156850104 rs2274499 G C 112 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.3337,C/0.6663;Gene=NTRK1/NM_001007792.1/0;CC=c.2097+155G>C;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.2187+155G>C;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.2205+155G>C;VC=Intron;DM=NTRK1/Pkinase_Tyr;DM=NTRK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:0:0:0:30:979:112.16:0.00:112.16:1.00:0.00:1.00:60:67.2:0:0:112:38:29:NM_001007792.1(NTRK1) c.2097+155G>C,NM_001007792.1(NTRK1) c.2097+155G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 156850112 rs2274500 T G 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3333,G/0.6667;Gene=NTRK1/NM_001007792.1/0;CC=c.2097+163T>G;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.2187+163T>G;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.2205+163T>G;VC=Intron;DM=NTRK1/Pkinase_Tyr;DM=NTRK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:0:0:0:26:827:95.05:0.00:95.05:1.00:0.00:1.00:60:71.9:0:0:112:37:25:NM_001007792.1(NTRK1) c.2097+163T>G,NM_001007792.1(NTRK1) c.2097+163T>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 156851041 rs2768758 T G 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.02256,G/0.9774;Gene=NTRK1/NM_001007792.1/0;CC=c.2098-208T>G;VC=Intron;Gene=NTRK1/NM_001012331.1/0;CC=c.2188-208T>G;VC=Intron;Gene=NTRK1/NM_002529.3/1;CC=c.2206-208T>G;VC=Intron;DM=NTRK1/Pkinase_Tyr;DM=NTRK1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:218:25.09:25.09:0.00:1.00:1.00:0.00:60:35.7:0:0:61:89:37:NM_001007792.1(NTRK1) c.2098-208T>G,NM_001007792.1(NTRK1) c.2098-208T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 156851435 . G . . NT END=156873718;NT GT ./. 1 156858049 rs75000987 C G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9491,G/0.05092;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,G:6:6:0:0:2,4:54,114:0.00,11.64:0.00,7.89:0.00,3.75:0.00,0.93:0.00,0.93:0.00,0.91:60,70:4.5,72.0:0,3:0,0:123,23:24,125:17,0:-,NM_001080471.1(PEAR1) c.-116-u5474C>G:-,0.06:-,NOT_FOUND 1 156873820 . G . . NT END=156874539;NT GT ./. 1 156874645 . G . . NT END=156874654;NT GT ./. 1 156874791 . G . . NT END=156875115;NT GT ./. 1 156875092 rs4661074 G A 204 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.605,A/0.395;PC=0.001;Gene=PEAR1/NM_001080471.1/1;CC=c.207-24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:147:A,G:56:47:0:0:55,1:1796,10:204.02,0.00:130.10,0.00:73.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:99.4,92.0:0,0:0,0:39,59:102,92:26,0:NM_001080471.1(PEAR1) c.207-24G>A,NM_001080471.1(PEAR1) c.207-24G>A:0.47,0.47:0.605951,0.605951 1 156875097 rs4661075 G A 199 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.5575,A/0.4425,T/.;Gene=PEAR1/NM_001080471.1/1;CC=c.207-19G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:A:56:47:0:1:56:1726:199.13:127.65:71.48:1.00:1.00:1.00:60:98.9:0:0:48:95:27:NM_001080471.1(PEAR1) c.207-19G>A,NM_001080471.1(PEAR1) c.207-19G>A:0.51,0.51:0.636168,0.636168 1 156875107 rs2644590 C A 219 nt VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.608,A/0.392;Gene=PEAR1/NM_001080471.1/1;CC=c.207-9C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:A,C,T:64:53:0:0:62,1,1:1918,9,10:219.24,0.00,0.14:146.06,0.00,0.00:73.17,0.00,0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:92.4,94.0,105.0:0,0,0:0,0,0:51,96,84:90,55,66:27,0,0:NM_001080471.1(PEAR1) c.207-9C>A,NM_001080471.1(PEAR1) c.207-9C>A:0.47,0.47:0.602568,0.602568 1 156875217 . G . . NT END=156876067;NT GT ./. 1 156875377 rs2644591 G C 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.08986,C/0.9101;Gene=PEAR1/NM_001080471.1/1;CC=c.307+161G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:320:37.23:0.00:37.23:1.00:0.00:1.00:60:51.1:0:0:134:17:13:NM_001080471.1(PEAR1) c.307+161G>C,NM_001080471.1(PEAR1) c.307+161G>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 156875985 rs2644593 G A 119 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.02736,A/0.9726;PC=0.772;Gene=PEAR1/NM_001080471.1/1;CC=c.308-83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:33:0:0:34:1029:119.00:105.23:13.77:1.00:1.00:1.00:60:38.7:0:0:26:124:20:NM_001080471.1(PEAR1) c.308-83G>A,NM_001080471.1(PEAR1) c.308-83G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 156876161 . G . . NT END=156876428;NT GT ./. 1 156876673 . G . . NT END=156877401;NT GT ./. 1 156877457 rs1952294 T C 392 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.02416,C/0.9758;PC=0.949;Gene=PEAR1/NM_001080471.1/1;CC=c.700T>C;ProtCh=p.S234P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:107:56:0:0:1,106:12,3417:0.14,391.63:0.00,153.26:0.14,238.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,40.6:0,0:0,0:6,86:145,61:0,34:NM_001080471.1(PEAR1) c.700T>C (p.Ser234Pro),NM_001080471.1(PEAR1) c.700T>C (p.Ser234Pro):0.98,0.98:0.97678,0.97678 1 156877523 . G . . NT END=156877706;NT GT ./. 1 156877844 . G . . NT END=156877919;NT GT ./. 1 156878133 . G . . NT END=156878446;NT GT ./. 1 156878622 . G . . NT END=156878707;NT GT ./. 1 156878829 . G . . NT END=156879542;NT GT ./. 1 156879707 . G . . NT END=156879797;NT GT ./. 1 156879901 . G . . NT END=156880025;NT GT ./. 1 156880173 . G . . NT END=156880409;NT GT ./. 1 156880190 rs41273213 C A 147 nt VT=SNV;PN=C;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.9944,A/0.005591;PC=0.001;Gene=PEAR1/NM_001080471.1/1;CC=c.1825+18C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:111:62:0:0:51,59,1:1561,1783,10:147.41,0.00,-0.14:56.30,0.00,-0.10:91.11,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.0,13.7,68.0:0,0,0:0,0,0:101,90,69:47,60,82:31,38,0:NM_001080471.1(PEAR1) c.1825+18C>A,-:0.01,-:0.014993,- 1 156880536 . G . . NT END=156882038;NT GT ./. 1 156882168 . G . . NT END=156882285;NT GT ./. 1 156882415 . G . . NT END=156882561;NT GT ./. 1 156882775 . G . . NT END=156882985;NT GT ./. 1 156883075 . G . . NT END=156883182;NT GT ./. 1 156883316 . G . . NT END=156883483;NT GT ./. 1 156883493 rs11264581 G A 203 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.7682,A/0.2318;Gene=PEAR1/NM_001080471.1/1;CC=c.2654G>A;ProtCh=p.R885H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:129:82:0:0:67,62:2097,1935:202.92,0.00:108.25,0.00:94.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.7,4.8:0,0:0,0:54,74:93,72:29,38:NM_001080471.1(PEAR1) c.2654G>A (p.Arg885His),-:0.22,-:0.14378,- 1 156883546 rs12137505 A G 273 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.5489,G/0.4511;PC=0.012;Gene=PEAR1/NM_001080471.1/1;CC=c.2707A>G;ProtCh=p.N903D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:153:101:0:0:67,86:2103,2773:0.00,272.70:0.00,128.49:0.00,144.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,59.2:0,0:0,0:66,61:77,85:36,36:-,NM_001080471.1(PEAR1) c.2707A>G (p.Asn903Asp):-,0.43:-,0.354913 1 156883553 . G . . NT END=156883643;NT GT ./. 1 156883893 . G . . NT END=156884438;NT GT ./. 1 156884365 rs749256 T C 182 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.08966,C/0.9103;Gene=PEAR1/NM_001080471.1/1;CC=c.2963-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:C:48:46:0:0:48:1595:182.34:140.24:42.10:1.00:1.00:1.00:60:48.0:0:0:48:102:26:NM_001080471.1(PEAR1) c.2963-74T>C,NM_001080471.1(PEAR1) c.2963-74T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 156884591 . G . . NT END=156890595;NT GT ./. 1 156890756 . G . . NT END=156891393;NT GT ./. 1 156891482 . G . . NT END=156893740;NT GT ./. 1 156893891 . G . . NT END=156894215;NT GT ./. 1 156894006 rs822438 C G 68 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.2366,G/0.7634;Gene=LRRC71/NM_144702.2/1;CC=c.310+116C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:43:12:0:0:20,22,1:540,705,31:0.00,68.48,1.74:0.00,28.96,1.92:0.00,39.52,-0.18:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.8,37.0,81.0:0,0,0:0,0,0:110,73,0:40,78,151:27,54,0:-,NM_144702.2(LRRC71) c.310+116C>G:-,0.73:-,NOT_FOUND 1 156894345 . G . . NT END=156894434;NT GT ./. 1 156894511 . G . . NT END=156894729;NT GT ./. 1 156894808 . G . . NT END=156896976;NT GT ./. 1 156897063 . G . . NT END=156897287;NT GT ./. 1 156897448 . G . . NT END=156897524;NT GT ./. 1 156897609 . G . . NT END=156897706;NT GT ./. 1 156897797 . G . . NT END=156899071;NT GT ./. 1 156899222 . G . . NT END=156899427;NT GT ./. 1 156899522 . G . . NT END=156900320;NT GT ./. 1 156900410 . G . . NT END=156901704;NT GT ./. 1 156901820 . G . . NT END=156902215;NT GT ./. 1 156902259 rs822430 G A 220 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=G/0.2452,A/0.7548,C/.;Gene=LRRC71/NM_144702.2/1;CC=c.1485G>A;ProtCh=p.T495=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:128:109:0:0:67,61:2259,1841:219.50,0.00:153.48,0.00:66.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,8.1:0,0:0,0:60,57:87,85:29,22:NM_144702.2(LRRC71) c.1485G>A (p.(=)),-:0.72,-:0.640352,- 1 156902442 . G . . NT END=156902644;NT GT ./. 1 156902574 rs397862703 A AT 9 rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.6931,AT/0.3069;DB;DBA=NA;PAF=A/0.6931,AT/0.3069;NP=284;Gene=LRRC71/NM_144702.2/1;CC=c.1564-60dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,C,AT,D:35:17:4:1:29,1,4,1:836,14,119,31:0.00,0.12,8.52,1.67:0.00,0.08,2.67,1.88:0.00,0.04,5.85,-0.20:0.00,0.00,0.61,0.00:0.00,0.00,0.78,0.00:0.00,0.00,0.83,0.00:60,60,60,60:16.4,98.0,63.2,12.0:0,0,0,0:0,0,0,0:73,71,108,116:78,80,42,35:46,0,11,0:-,NM_144702.2(LRRC71) c.1564-71_1564-70insT:-,NOT_FOUND:-,NOT_FOUND 1 156902762 . C . . NT END=156905791;NT GT ./. 1 156905851 . C . . NT END=156906607;NT GT ./. 1 156906450 rs883232 A G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7628,G/0.2372;Gene=ARHGEF11/NM_014784.3/0;CC=c.4510+158T>C;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.4630+158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,G:13:13:0:0:9,4:272,134:0.00,11.82:0.00,11.82:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,60:19.0,36.2:0,0:0,0:42,24:109,126:19,14:-,NM_198236.2(ARHGEF11) c.4630+158T>C:-,0.23:-,NOT_FOUND 1 156906798 . C . . NT END=156907040;NT GT ./. 1 156907081 rs945508 T C 206 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=T/0.2376,C/0.7624;Gene=ARHGEF11/NM_014784.3/0;CC=c.4280A>G;ProtCh=p.H1427R;VC=Missense;Gene=ARHGEF11/NM_198236.2/1;CC=c.4400A>G;ProtCh=p.H1467R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:158:118:0:0:70,1,87:2196,11,2741:205.90,-0.15,0.00:123.78,-0.05,0.00:82.13,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.4,50.0,12.2:0,0,0:0,0,0:71,76,78:75,75,69:35,0,27:NM_198236.2(ARHGEF11) c.4400A>G (p.His1467Arg),-:0.73,-:0.650315,- 1 156907115 rs868188 T C 213 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=169;DB;DBA=NA;PAF=T/0.5935,C/0.4065;PC=0.657;Gene=ARHGEF11/NM_014784.3/0;CC=c.4246A>G;ProtCh=p.S1416G;VC=Missense;Gene=ARHGEF11/NM_198236.2/1;CC=c.4366A>G;ProtCh=p.S1456G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:169:121:0:0:71,98:2288,3041:212.74,0.00:110.38,0.00:102.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.3,14.6:0,0:0,0:68,81:80,69:37,43:NM_198236.2(ARHGEF11) c.4366A>G (p.Ser1456Gly),-:0.37,-:0.311702,- 1 156907289 . C . . NT END=156908209;NT GT ./. 1 156908306 . C . . NT END=156909339;NT GT ./. 1 156909703 . C . . NT END=156909998;NT GT ./. 1 156910218 . C . . NT END=156911163;NT GT ./. 1 156911226 . C . . NT END=156911655;NT GT ./. 1 156911782 . C . . NT END=156912481;NT GT ./. 1 156912573 . C . . NT END=156913726;NT GT ./. 1 156913895 . C . . NT END=156914149;NT GT ./. 1 156914226 . C . . NT END=156914810;NT GT ./. 1 156914240 rs5778015 CCATT C 49 rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1249;PC=0.003;Gene=ARHGEF11/NM_014784.3/0;CC=c.2872-19_2872-16delAATG;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.2992-19_2992-16delAATG;VC=Intron;DM=ARHGEF11/PH_13;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCATT,C:48:24:0:18:31,17:1032,577:0.00,49.46:0.00,14.49:0.00,34.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,2.0:0,1:0,0:117,83:28,68:21,21:-,NM_198236.2(ARHGEF11) c.2992-19_2992-16delAATG:-,NOT_FOUND:-,NOT_FOUND 1 156914990 . C . . NT END=156915836;NT GT ./. 1 156915955 . C . . NT END=156916453;NT GT ./. 1 156916580 . C . . NT END=156916727;NT GT ./. 1 156916808 . C . . NT END=156917095;NT GT ./. 1 156917243 . C . . NT END=156917560;NT GT ./. 1 156917749 . C . . NT END=156917972;NT GT ./. 1 156918021 . C . . NT END=156918110;NT GT ./. 1 156918291 . C . . NT END=156918364;NT GT ./. 1 156918900 . T . . NT END=156921364;NT GT ./. 1 156921118 rs115417878 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9928,C/0.007188;NP=4;Gene=ARHGEF11/NM_014784.3/0;CC=c.1805+247A>G;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.1925+247A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:11:11:0:0:5,6:163,172:15.41,0.00:15.41,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:35.0,7.5:0,0:0,0:65,36:86,115:27,29:NM_198236.2(ARHGEF11) c.1925+247A>G,-:0.01,-:NOT_FOUND,- 1 156921492 . C . . NT END=156924683;NT GT ./. 1 156924714 . C . . NT END=156925494;NT GT ./. 1 156925595 . C . . NT END=156926211;NT GT ./. 1 156926357 . C . . NT END=156927583;NT GT ./. 1 156927608 . C . . NT END=156928533;NT GT ./. 1 156928657 . C . . NT END=156928837;NT GT ./. 1 156928935 . C . . NT END=156930209;NT GT ./. 1 156930253 . C . . NT END=156931468;NT GT ./. 1 156931568 . C . . NT END=156932994;NT GT ./. 1 156933097 . C . . NT END=156933311;NT GT ./. 1 156933387 . C . . NT END=156933483;NT GT ./. 1 156933575 . C . . NT END=156937778;NT GT ./. 1 156933613 rs1336150 G T 63 nt VT=SNV;PN=T;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.5966,T/0.4034;PC=0.002;Gene=ARHGEF11/NM_014784.3/0;CC=c.844-227C>A;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.964-227C>A;VC=Intron;DM=ARHGEF11/RGS-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:61:25:0:0:39,22:1299,698:0.00,62.96:0.00,16.15:0.00,46.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,40.0:0,0:0,0:118,117:33,27:21,23:-,NM_198236.2(ARHGEF11) c.964-227C>A:-,0.37:-,NOT_FOUND 1 156937917 . C . . NT END=156939073;NT GT ./. 1 156939151 . C . . NT END=156939789;NT GT ./. 1 156939175 rs1336149 C T 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.2847,T/0.7153;PC=0.007;Gene=ARHGEF11/NM_014784.3/0;CC=c.629-25G>A;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.749-25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:23:0:0:27,24:891,739:0.00,70.04:0.00,21.55:0.00,48.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,44.0:0,0:0,0:106,117:38,31:36,22:-,NM_198236.2(ARHGEF11) c.749-25G>A:-,0.67:-,0.582052 1 156939836 . C . . NT END=156941488;NT GT ./. 1 156941609 . C . . NT END=156946774;NT GT ./. 1 156946847 . C . . NT END=156947995;NT GT ./. 1 156948175 . C . . NT END=156949020;NT GT ./. 1 156948956 rs397840602 CCCT C 41 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=CCCT/0.766,C/0.234;DB;DBA=NA;PAF=CCCT/0.766,C/0.234;NP=1146;PC=0.006;Gene=ARHGEF11/NM_014784.3/0;CC=c.331+62_331+64delAGG;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.331+62_331+64delAGG;VC=Intron;DM=ARHGEF11/PDZ;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCCT,C:32:28:0:14:18,14:574,441:0.00,41.26:0.00,35.55:0.00,5.71:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.9,3.2:0,0:0,0:49,51:101,99:25,21:-,NM_198236.2(ARHGEF11) c.331+62_331+64delAGG:-,0.22:-,0.157109 1 156949079 . C . . NT END=156950228;NT GT ./. 1 156949153 rs369143323 C CT 8 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.001;Gene=ARHGEF11/NM_014784.3/0;CC=c.274-76_274-75insA;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.274-76_274-75insA;VC=Intron;DM=ARHGEF11/PDZ;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,CT,D:20:6:4:5:13,4,3:376,101,132:0.00,7.92,5.72:0.00,-0.30,-0.22:0.00,8.23,5.94:0.00,0.70,0.00:0.00,0.67,0.00:0.00,0.96,0.00:60,60,60:12.5,15.2,32.0:0,0,2:0,0,0:129,68,117:22,82,34:15,10,1:-,NM_198236.2(ARHGEF11) c.274-76_274-75insA:-,NOT_FOUND:-,NOT_FOUND 1 156950279 . C . . NT END=156954130;NT GT ./. 1 156954230 . C . . NT END=156955873;NT GT ./. 1 156954267 rs6427339 C T 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.4081,T/0.5919;Gene=ARHGEF11/NM_014784.3/0;CC=c.125-38G>A;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.125-38G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:20:0:0:28,28:928,895:0.00,85.98:0.00,16.06:0.00,69.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,42.1:0,0:0,0:85,118:59,32:21,20:-,NM_198236.2(ARHGEF11) c.125-38G>A:-,0.59:-,0.487442 1 156954384 rs6427340 T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4507,C/0.5493;Gene=ARHGEF11/NM_014784.3/0;CC=c.125-155A>G;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.125-155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:C,T:16:0:0:0:6,10:165,318:14.74,0.00:0.00,0.00:14.74,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:42.5,0.2:0,0:0,0:85,114:65,36:15,24:NM_198236.2(ARHGEF11) c.125-155A>G,-:0.55,-:NOT_FOUND,- 1 156955966 . C . . NT END=157014090;NT GT ./. 1 156956057 rs3737599 T C 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7626,C/0.2374;Gene=ARHGEF11/NM_014784.3/0;CC=c.33-92A>G;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.33-92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:2:0:0:10,11:288,365:27.22,0.00:1.64,0.00:25.58,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:32.3,10.2:0,0:0,0:101,107:49,44:27,25:NM_198236.2(ARHGEF11) c.33-92A>G,-:0.23,-:NOT_FOUND,- 1 156983055 rs71084208 T A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2264,A/0.7736;DB;DBA=NA;PAF=NA;PC=0.016;Gene=ARHGEF11/NM_014784.3/0;CC=c.33-27090A>T;VC=Intron;Gene=ARHGEF11/NM_198236.2/1;CC=c.33-27090A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:257:29.51:25.54:3.98:1.00:1.00:1.00:60:38.9:0:0:96:38:16:NM_198236.2(ARHGEF11) c.33-27090A>T,NM_198236.2(ARHGEF11) c.33-27090A>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 157014123 . G . . NT END=157062440;NT GT ./. 1 157028942 rs57710251 CA C,CAA 31 idl,nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=519;PC=0.702 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:78:CA,CAA,C:20:21:6:11:4,6,10:113,183,341:0.00,17.31,31.23:0.00,17.31,31.23:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:28.2,63.8,45.0:0,0,1:0,0,0:94,61,49:57,88,101:27,34,37:chr1 g.157028943delA (intergenic),chr1 g.157028943dupA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 157028990 rs866605 T C 139 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.06809,C/0.9319 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:33:0:0:37:1212:138.84:120.41:18.43:1.00:1.00:1.00:60:47.5:0:0:44:106:22:chr1 g.157028989T>C (intergenic),chr1 g.157028989T>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 1 157029557 rs11264608 C G 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7564,G/0.2436;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:31:0:0:20,26:675,818:0.00,80.43:0.00,35.50:0.00,44.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,34.8:0,0:0,0:57,66:92,81:21,38:-,chr1 g.157029556C>G (intergenic):-,0.24:-,NOT_FOUND 1 157030204 rs3795741 G T 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.7574,T/0.2426;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:50:31:0:0:33,17:1037,498:0.00,44.00:0.00,27.02:0.00,16.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,45.8:0,0:0,0:53,94:87,57:25,43:-,chr1 g.157030203G>T (intergenic):-,0.24:-,NOT_FOUND 1 157043044 rs2316334 T C 81 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2519 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A,C:23:19:0:0:1,22:8,710:0.22,81.06:0.22,57.84:0.00,23.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:131.0,44.6:0,0:0,0:28,66:123,84:0,25:chr1 g.157043043T>C (intergenic),chr1 g.157043043T>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 157043172 rs34834514 G GGCA 56 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1368;PC=0.031;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGCA:37:27:18:0:19,18:624,582:0.00,55.65:0.00,42.59:0.00,13.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,4.6:0,0:0,0:53,47:98,103:20,25:-,chr1 g.157043172_157043173insGCA (intergenic):-,0.42:-,NOT_FOUND 1 157043491 rs11264609 A G 162 nt VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.5313,G/0.4687;PC=0.120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:103:78:0:0:48,55:1657,1663:0.00,161.58:0.00,82.50:0.00,79.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,33.6:0,0:0,0:47,48:99,99:20,25:-,chr1 g.157043490A>G (intergenic):-,0.46:-,NOT_FOUND 1 157043732 rs56389633 A G 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.6282,G/0.3718;PC=0.372 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:32:0:0:26,29:882,948:0.00,92.10:0.00,39.56:0.00,52.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,39.9:0,0:0,0:85,92:65,59:43,41:-,chr1 g.157043731A>G (intergenic):-,0.37:-,NOT_FOUND 1 157043969 rs16865471 T C 103 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.7566,C/0.2434;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:34:0:0:33,18:1017,583:103.01,0.00:65.03,0.00:37.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,6.3:0,0:0,0:45,99:106,51:36,39:chr1 g.157043968T>C (intergenic),-:0.23,-:NOT_FOUND,- 1 157043989 rs140355077 CCG C 55 nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=CCG/0.5799,C/0.4201;NP=2072;PC=0.753;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCG,C:53:35:0:19:34,19:1092,611:0.00,55.17:0.00,31.79:0.00,23.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.4,5.4:0,0:0,0:58,49:93,101:32,38:-,chr1 g.157043990_157043991delCG (intergenic):-,0.42:-,NOT_FOUND 1 157044627 rs9628663 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01577,C/0.9842;NP=1551 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:125:14.72:0.00:14.72:1.00:0.00:1.00:60:41.6:0:0:96:52:14:chr1 g.157044626T>C (intergenic),chr1 g.157044626T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 157062364 rs1176536 G A 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ETV3L/NM_001004341.2/1;CC=c.*77C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:10,10:302,295:28.94,0.00:27.20,0.00:1.74,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:40.6,7.9:0,0:0,0:32,81:118,70:23,19:NM_001004341.2(ETV3L) c.*77C>T,-:0.25,-:NOT_FOUND,- 1 157062696 rs1176537 G T 188 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=157;DB;DBA=NA;PAF=G/0.7762,T/0.2238;PC=0.721;Gene=ETV3L/NM_001004341.2/1;CC=c.831C>A;ProtCh=p.L277=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:157:99:0:0:89,68:2886,2026:0.00,188.26:0.00,85.21:0.00,103.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,40.0:0,0:0,0:61,73:82,74:29,37:-,NM_001004341.2(ETV3L) c.831C>A (p.(=)):-,0.26:-,0.295556 1 157062920 . C . . NT END=157067659;NT GT ./. 1 157067781 . C . . NT END=157068497;NT GT ./. 1 157067893 . AT A 8 rn VT=DEL;SST=Single;DP=27;NP=2;PC=0.123;Gene=ETV3L/NM_001004341.2/1;CC=c.487-114delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:AT,I,A:27:2:1:4:22,1,4:588,33,114:0.00,1.99,8.48:0.00,-0.02,-0.07:0.00,2.01,8.55:0.00,0.00,0.66:0.00,0.00,0.40:0.00,0.00,0.66:60,60,60:18.2,0.0,62.5:0,0,0:0,0,0:105,70,106:46,79,42:35,0,13:-,NM_001004341.2(ETV3L) c.487-114delA:-,NOT_FOUND:-,NOT_FOUND 1 157068688 . C . . NT END=157068932;NT GT ./. 1 157069154 rs16838075 A G 228 lc VT=SNV;PN=A;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=A/0.7045,G/0.2955;PC=0.998;Gene=ETV3L/NM_001004341.2/1;CC=c.75T>C;ProtCh=p.D25=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:150:83:0:0:78,72:2427,2390:0.00,228.21:0.00,107.64:0.00,120.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,39.0:0,0:0,0:88,80:60,60:37,25:-,NM_001004341.2(ETV3L) c.75T>C (p.(=)):-,0.29:-,0.261725 1 157069171 . C . . NT END=157069257;NT GT ./. 1 157069316 . G . . NT END=157094632;NT GT ./. 1 157095470 rs2231856 A G 302 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=182;DB;DBA=NA;PAF=A/0.758,G/0.242;PC=1.000;Gene=ETV3/NM_001145312.1/1;CC=c.702T>C;ProtCh=p.F234=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:182:133:0:0:82,99,1:2733,3087,11:0.00,301.57,-0.11:0.00,154.62,-0.04:0.00,146.96,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.9,42.3,205.0:0,0,0:0,0,0:68,67,61:78,78,72:33,33,0:-,NM_001145312.1(ETV3) c.702T>C (p.(=)):-,0.21:-,0.074463 1 157095772 . C . . NT END=157103153;NT GT ./. 1 157102939 rs7521824 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7584,C/0.2416;Gene=ETV3/NM_001145312.1/1;CC=c.400+965A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:7:7:0:0:3,4:105,103:9.88,0.00:9.88,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:35.0,8.2:0,0:0,0:69,29:82,121:27,22:NM_001145312.1(ETV3) c.400+965A>G,-:0.21,-:NOT_FOUND,- 1 157104020 . C . . NT END=157105262;NT GT ./. 1 157105501 . C . . NT END=157106098;NT GT ./. 1 157106145 . T . . NT END=157485391;NT GT ./. 1 157191638 rs57877799 GCA G 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=82;PC=0.011;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:GCA,G:4:3:0:3:1,3:31,93:0.00,9.75:0.00,8.88:0.00,0.87:0.00,0.85:0.00,0.99:0.00,0.95:60,60:23.0,16.0:0,0:0,0:48,42:102,81:0,5:-,chr1 g.157191639_157191640delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 157221235 rs55801146 ATG A 10 sb;idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=67;PC=0.003;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:5:0:5:3:134:10.16:9.78:0.38:0.78:0.78:0.94:60:58.0:2:0:43:95:21:chr1 g.157221236_157221237delTG (intergenic),chr1 g.157221236_157221237delTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 157387539 rs72704576 T TGTGTGTGTGTGTGC 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=5;NP=52;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TGTGTGTGTGTGTGC:4:4:4:0:1,3:33,132:0.00,10.47:0.00,4.93:0.00,5.53:0.00,0.78:0.00,0.97:0.00,0.97:60,70:0.0,4.3:0,1:0,0:134,39:4,77:0,17:-,chr1 g.157387539_157387540insGTGTGTGTGTGTGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 157485555 . C . . NT END=157485631;NT GT ./. 1 157485561 rs3811035 G A 131 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.4952,A/0.5048;PC=0.114;Gene=FCRL5/NM_001195388.1/0;CC=c.2835-7C>T;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.2845-7C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:48:0:0:44,38:1347,1158:131.06,0.00:79.77,0.00:51.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.0,35.4:0,0:0,0:83,89:63,55:34,46:NM_031281.2(FCRL5) c.2845-7C>T,-:0.51,-:0.481547,- 1 157485664 . C . . NT END=157488218;NT GT ./. 1 157485720 rs1002967 T C 133 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.03255,C/0.9675;Gene=FCRL5/NM_001195388.1/0;CC=c.2803-57A>G;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.2813-57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:16:0:0:37:1157:133.26:37.72:95.55:1.00:1.00:1.00:60:35.9:0:0:86:59:23:NM_031281.2(FCRL5) c.2813-57A>G,NM_031281.2(FCRL5) c.2813-57A>G:0.97,0.97:0.965834,0.965834 1 157488288 . C . . NT END=157488489;NT GT ./. 1 157488573 . C . . NT END=157489532;NT GT ./. 1 157489561 . C . . NT END=157490220;NT GT ./. 1 157490338 . C . . NT END=157490806;NT GT ./. 1 157491083 . C . . NT END=157494068;NT GT ./. 1 157491173 rs6427383 T A 226 nt VT=SNV;PN=A;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.3345,A/0.6655;PC=0.003;Gene=FCRL5/NM_001195388.1/0;CC=c.2240-91A>T;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.2240-91A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A,T:70:12:0:0:69,1:1959,21:226.24,0.00:27.00,0.00:199.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.7,159.0:0,0:0,0:106,142:45,-2:24,0:NM_031281.2(FCRL5) c.2240-91A>T,NM_031281.2(FCRL5) c.2240-91A>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 157491322 rs6696922 G A 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1623,A/0.8377;Gene=FCRL5/NM_001195388.1/0;CC=c.2240-240C>T;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.2240-240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:0:0:0:12:338:39.39:0.00:39.39:1.00:0.00:1.00:60:46.7:0:0:98:53:23:NM_031281.2(FCRL5) c.2240-240C>T,NM_031281.2(FCRL5) c.2240-240C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 157494348 . C . . NT END=157497406;NT GT ./. 1 157497263 rs3761961 T C 76 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1577,C/0.8423;PC=0.001;Gene=FCRL5/NM_001195388.1/0;CC=c.1960+144A>G;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.1960+144A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:21:0:0:21:665:76.47:76.47:0.00:1.00:1.00:0.00:60:38.7:0:0:80:71:41:NM_031281.2(FCRL5) c.1960+144A>G,NM_031281.2(FCRL5) c.1960+144A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 157497686 . C . . NT END=157504403;NT GT ./. 1 157504683 . C . . NT END=157508875;NT GT ./. 1 157508660 rs2012425 A G 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.08806,G/0.9119;Gene=FCRL5/NM_001195388.1/0;CC=c.1402+216T>C;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.1402+216T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:395:45.22:45.22:0.00:1.00:1.00:0.00:60:67.2:0:0:39:111:17:NM_031281.2(FCRL5) c.1402+216T>C,NM_031281.2(FCRL5) c.1402+216T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 157508801 rs1972239 C T 187 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.1907,T/0.8093;Gene=FCRL5/NM_001195388.1/0;CC=c.1402+75G>A;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.1402+75G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:T:51:49:0:0:51:1626:186.86:166.42:20.44:1.00:1.00:1.00:60:61.5:0:0:37:111:26:NM_031281.2(FCRL5) c.1402+75G>A,NM_031281.2(FCRL5) c.1402+75G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 157508882 rs6427384 C T 383 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.3067,T/0.6933;Gene=FCRL5/NM_001195388.1/0;CC=c.1396G>A;ProtCh=p.V466I;VC=Missense;Gene=FCRL5/NM_031281.2/1;CC=c.1396G>A;ProtCh=p.V466I;VC=Missense;DM=FCRL5/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:101:81:0:0:101:3347:382.73:216.81:165.92:1.00:1.00:1.00:60:51.5:0:0:58:92:20:NM_031281.2(FCRL5) c.1396G>A (p.Val466Ile),NM_031281.2(FCRL5) c.1396G>A (p.Val466Ile):0.71,0.71:0.699216,0.699216 1 157509025 rs2012199 C T 304 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.1589,T/0.8411;Gene=FCRL5/NM_001195388.1/0;CC=c.1253G>A;ProtCh=p.G418D;VC=Missense;Gene=FCRL5/NM_031281.2/1;CC=c.1253G>A;ProtCh=p.G418D;VC=Missense;DM=FCRL5/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:83:50:0:0:83:2644:303.91:137.64:166.26:1.00:1.00:1.00:60:36.7:0:0:82:65:41:NM_031281.2(FCRL5) c.1253G>A (p.Gly418Asp),NM_031281.2(FCRL5) c.1253G>A (p.Gly418Asp):0.83,0.83:0.824389,0.824389 1 157509155 . C . . NT END=157512648;NT GT ./. 1 157512453 rs3897288 A G 53 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.01158,G/0.9884;Gene=FCRL5/NM_001195388.1/0;CC=c.1123+196T>C;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.1123+196T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:468:53.48:53.48:0.00:1.00:1.00:0.00:60:42.6:0:0:25:125:24:NM_031281.2(FCRL5) c.1123+196T>C,NM_031281.2(FCRL5) c.1123+196T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 157512928 . C . . NT END=157514051;NT GT ./. 1 157514091 rs12036228 C T 92 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.8023,T/0.1977;Gene=FCRL5/NM_001195388.1/0;CC=c.805G>A;ProtCh=p.V269I;VC=Missense;Gene=FCRL5/NM_031281.2/1;CC=c.805G>A;ProtCh=p.V269I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:68:52:0:0:1,37,30:19,1192,981:0.41,0.00,92.42:0.50,0.00,45.56:-0.09,0.00,46.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:93.0,42.0,69.8:0,0,0:0,0,0:107,70,62:43,73,84:0,31,36:-,NM_031281.2(FCRL5) c.805G>A (p.Val269Ile):-,0.21:-,0.241196 1 157514097 rs6679793 A G 258 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.2927,G/0.7073;Gene=FCRL5/NM_001195388.1/0;CC=c.799T>C;ProtCh=p.Y267H;VC=Missense;Gene=FCRL5/NM_031281.2/1;CC=c.799T>C;ProtCh=p.Y267H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:54:0:0:70:2248:258.02:154.96:103.06:1.00:1.00:1.00:60:55.4:0:0:68:78:36:NM_031281.2(FCRL5) c.799T>C (p.Tyr267His),NM_031281.2(FCRL5) c.799T>C (p.Tyr267His):0.74,0.74:0.698062,0.698062 1 157514337 . C . . NT END=157514620;NT GT ./. 1 157514873 . C . . NT END=157516732;NT GT ./. 1 157516988 . C . . NT END=157519349;NT GT ./. 1 157517127 rs7531685 C T 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8177,T/0.1823;Gene=FCRL5/NM_001195388.1/0;CC=c.53-140G>A;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.53-140G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:2:0:0:14,9:448,249:0.00,22.50:0.00,1.58:0.00,20.92:0.00,1.00:0.00,0.69:0.00,1.00:60,60:0.6,31.0:0,0:0,0:107,104:44,47:26,40:-,NM_031281.2(FCRL5) c.53-140G>A:-,0.2:-,0.214859 1 157519371 . C . . NT END=157522121;NT GT ./. 1 157522016 rs7552348 G A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.7903,A/0.2097;Gene=FCRL5/NM_001195388.1/0;CC=c.31+106C>T;VC=Intron;Gene=FCRL5/NM_031281.2/1;CC=c.31+106C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:9,15:297,524:27.10,0.00:25.78,0.00:1.32,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:33.0,5.1:0,0:0,0:84,34:67,117:35,12:NM_031281.2(FCRL5) c.31+106C>T,-:0.22,-:NOT_FOUND,- 1 157522153 . G . . NT END=157545313;NT GT ./. 1 157545231 rs849827 G T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5591,T/0.4409;Gene=FCRL4/NM_031282.2/1;CC=c.*83C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:G,T:13:13:0:0:7,6:189,157:0.00,14.68:0.00,14.95:0.00,-0.27:0.00,0.97:0.00,0.97:0.00,0.76:60,60:44.7,62.0:0,0:0,0:22,84:119,65:10,26:-,NM_031282.2(FCRL4) c.*83C>A:-,0.44:-,NOT_FOUND 1 157545401 . C . . NT END=157545488;NT GT ./. 1 157545521 . C . . NT END=157548263;NT GT ./. 1 157548333 . C . . NT END=157548559;NT GT ./. 1 157548643 . C . . NT END=157550110;NT GT ./. 1 157548669 rs1885561 T A 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.5591,A/0.4409;Gene=FCRL4/NM_031282.2/1;CC=c.1278-27A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:13:0:0:16,17:431,496:40.79,0.00:12.71,0.00:28.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.1,6.5:0,0:0,0:108,108:42,39:19,23:NM_031282.2(FCRL4) c.1278-27A>T,-:0.44,-:0.48024,- 1 157550139 . C . . NT END=157551320;NT GT ./. 1 157550357 rs2779159 C T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5601,T/0.4399;PC=0.001;Gene=FCRL4/NM_031282.2/1;CC=c.1250-219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:0:0:0:4,3:134,96:0.00,8.96:0.00,0.00:0.00,8.96:0.00,0.69:0.00,0.00:0.00,0.69:60,60:2.2,44.7:0,0:0,0:103,100:47,51:23,24:-,NM_031282.2(FCRL4) c.1250-219G>A:-,0.44:-,NOT_FOUND 1 157551435 . C . . NT END=157555957;NT GT ./. 1 157556246 . C . . NT END=157557065;NT GT ./. 1 157557351 . C . . NT END=157557654;NT GT ./. 1 157557910 . C . . NT END=157558993;NT GT ./. 1 157557957 rs11799853 T C 81 nt VT=SNV;PN=A;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.7027,C/0.2973;Gene=FCRL4/NM_031282.2/1;CC=c.308-48A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:26:0:0:28,32:859,1065:81.18,0.00:23.86,0.00:57.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,3.8:0,0:0,0:120,97:25,53:24,26:NM_031282.2(FCRL4) c.308-48A>G,-:0.3,-:0.325311,- 1 157559249 . C . . NT END=157566117;NT GT ./. 1 157565970 rs1885560 A G 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2043,G/0.7957;Gene=FCRL4/NM_031282.2/1;CC=c.52+148T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:8:8:0:0:3,5:102,157:0.00,15.79:0.00,15.79:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,69.0:0,0:0,0:74,36:77,113:10,4:-,NM_031282.2(FCRL4) c.52+148T>C:-,0.8:-,NOT_FOUND 1 157566019 rs10489674 G A 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7085,A/0.2915;Gene=FCRL4/NM_031282.2/1;CC=c.52+99C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:10,6:316,211:31.77,0.00:31.77,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:57.5,0.0:0,0:0,0:30,70:120,80:17,52:NM_031282.2(FCRL4) c.52+99C>T,-:0.3,-:NOT_FOUND,- 1 157566139 . C . . NT END=157567703;NT GT ./. 1 157566211 rs12744410 A G 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.7085,G/0.2915;Gene=FCRL4/NM_031282.2/1;CC=c.32-73T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:26:0:0:19,23:621,754:0.00,73.79:0.00,27.65:0.00,46.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,36.3:0,0:0,0:112,93:36,52:17,29:-,NM_031282.2(FCRL4) c.32-73T>C:-,0.3:-,0.324792 1 157567735 . G . . NT END=157646501;NT GT ./. 1 157567751 rs1361889 A G 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.2039,G/0.7961,T/.;Gene=FCRL4/NM_031282.2/1;CC=c.-17T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:17:0:0:14,20:422,680:0.00,67.54:0.00,33.53:0.00,34.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,42.4:0,0:0,0:102,68:39,69:26,21:-,NM_031282.2(FCRL4) c.-17T>C:-,0.8:-,0.736968 1 157600516 rs35428917 C T 68 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7995,T/0.2005;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:10:0:0:18:597:68.28:28.43:39.86:1.00:1.00:1.00:60:42.3:0:0:99:46:24:chr1 g.157600515C>T (intergenic),chr1 g.157600515C>T (intergenic):0.19,0.19:NOT_FOUND,NOT_FOUND 1 157606064 rs2758695 C T 148 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.2258,T/0.7742 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:T:41:37:0:0:41:1284:147.80:104.46:43.33:1.00:1.00:1.00:60:36.2:0:0:54:89:26:chr1 g.157606063C>T (intergenic),chr1 g.157606063C>T (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 1 157606294 rs2248138 T A 136 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.2256,A/0.7744 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:20:0:0:38:1175:135.51:61.46:74.05:1.00:1.00:1.00:60:47.7:0:0:58:85:32:chr1 g.157606293T>A (intergenic),chr1 g.157606293T>A (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 1 157609652 rs12748369 A G 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8289,G/0.1711 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:6:0:0:7:236:26.94:23.16:3.78:1.00:1.00:1.00:60:33.7:0:0:63:87:31:chr1 g.157609651A>G (intergenic),chr1 g.157609651A>G (intergenic):0.17,0.17:NOT_FOUND,NOT_FOUND 1 157609922 rs35872364 ACTC A 26 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=ACTC/0.9858,A/0.01418;DB;DBA=NA;PAF=ACTC/0.9858,A/0.01418;NP=140;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTC,A:28:16:0:9:19,9:583,291:0.00,25.76:0.00,9.70:0.00,16.07:0.00,0.99:0.00,0.99:0.00,1.00:60,60:6.1,3.9:0,0:0,0:90,41:55,110:24,29:-,chr1 g.157609923_157609925delCTC (intergenic):-,0.01:-,NOT_FOUND 1 157647434 . c . . NT END=157647705;NT GT ./. 1 157647526 rs11264793 A T 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7169,T/0.2831 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:8:0:0:21:643:74.27:28.51:45.75:1.00:1.00:1.00:60:42.6:0:0:73:78:32:chr1 g.157647525A>T (intergenic),chr1 g.157647525A>T (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 1 157647789 rs11264794 C A 237 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.3864,A/0.6136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:A,C:65:52:0:0:64,1:2092,36:237.47,0.00:158.49,0.00:78.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,0.0:0,0:0,0:64,64:85,87:31,0:chr1 g.157647788C>A (intergenic),chr1 g.157647788C>A (intergenic):0.62,0.62:NOT_FOUND,NOT_FOUND 1 157648371 rs2282283 T G 552 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=T/0.7045,G/0.2955;Gene=FCRL3/NM_052939.3/1;CC=c.*129A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:153:111:0:0:1,152:34,4812:1.73,552.50:0.87,285.23:0.87,267.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,39.5:0,0:0,0:33,72:86,70:0,36:NM_052939.3(FCRL3) c.*129A>C,NM_052939.3(FCRL3) c.*129A>C:0.3,0.3:NOT_FOUND,NOT_FOUND 1 157648647 . C . . NT END=157648731;NT GT ./. 1 157648764 . C . . NT END=157650491;NT GT ./. 1 157650561 . C . . NT END=157650770;NT GT ./. 1 157650890 . C . . NT END=157653006;NT GT ./. 1 157651032 rs7546300 T A 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.725,A/0.275;PC=0.002;Gene=FCRL3/NM_052939.3/1;CC=c.1839-143A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A,C:16:0:0:1:15,1:441,12:50.77,0.57:0.00,0.00:50.77,0.57:1.00,0.00:0.00,0.00:1.00,0.00:60,56:41.9,141.0:0,0:0,0:114,17:37,133:21,0:NM_052939.3(FCRL3) c.1839-143A>T,NM_052939.3(FCRL3) c.1839-143A>T:0.27,0.27:NOT_FOUND,NOT_FOUND 1 157651104 rs7546376 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7057,C/0.2943;PC=0.033;Gene=FCRL3/NM_052939.3/1;CC=c.1839-215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:167:19.51:0.00:19.51:1.00:0.00:1.00:60:82.0:0:0:106:44:29:NM_052939.3(FCRL3) c.1839-215A>G,NM_052939.3(FCRL3) c.1839-215A>G:0.29,0.29:NOT_FOUND,NOT_FOUND 1 157653035 . C . . NT END=157659587;NT GT ./. 1 157659708 . C . . NT END=157660044;NT GT ./. 1 157660324 . C . . NT END=157665118;NT GT ./. 1 157665416 . C . . NT END=157665829;NT GT ./. 1 157666118 . C . . NT END=157666929;NT GT ./. 1 157666644 rs6681271 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4389,C/0.5611;Gene=FCRL3/NM_052939.3/1;CC=c.844+286A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:78.0:0:0:21:124:10:NM_052939.3(FCRL3) c.844+286A>G,NM_052939.3(FCRL3) c.844+286A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 157667215 . C . . NT END=157667448;NT GT ./. 1 157667710 . C . . NT END=157668173;NT GT ./. 1 157668390 rs7522061 T C 180 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.5294,C/0.4706;Gene=FCRL3/NM_052939.3/1;CC=c.82A>G;ProtCh=p.N28D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:129:A,C:51:32:0:0:1,50:13,1570:0.33,180.24:0.00,82.99:0.33,97.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:101.0,64.5:0,0:0,0:25,74:124,75:0,35:NM_052939.3(FCRL3) c.82A>G (p.Asn28Asp),NM_052939.3(FCRL3) c.82A>G (p.Asn28Asp):0.51,0.51:0.519914,0.519914 1 157668420 . C . . NT END=157669481;NT GT ./. 1 157668427 rs12140725 G A 201 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.8586,A/0.1414;PC=0.028;Gene=FCRL3/NM_052939.3/1;CC=c.53-8C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:29:0:0:52:1759:200.67:73.94:126.74:1.00:1.00:1.00:60:67.6:0:0:65:79:22:NM_052939.3(FCRL3) c.53-8C>T,NM_052939.3(FCRL3) c.53-8C>T:0.17,0.17:0.163002,0.163002 1 157669278 rs3761959 C T 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5377,T/0.4623;Gene=FCRL3/NM_052939.3/1;CC=c.52+204G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:306:34.89:34.89:0.00:1.00:1.00:0.00:60:46.1:0:0:54:97:41:NM_052939.3(FCRL3) c.52+204G>A,NM_052939.3(FCRL3) c.52+204G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 1 157669503 . C . . NT END=157670248;NT GT ./. 1 157669668 rs10489678 G A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8147,A/0.1853;Gene=FCRL3/NM_052939.3/1;CC=c.32-166C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:287:33.39:0.00:33.39:1.00:0.00:1.00:60:49.6:0:0:99:51:33:NM_052939.3(FCRL3) c.32-166C>T,NM_052939.3(FCRL3) c.32-166C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 1 157670290 rs945635 C G 510 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.4567,A/.,G/0.5433;Gene=FCRL3/NM_052939.3/1;CC=c.-11G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:146:113:0:0:146:4414:510.48:288.90:221.58:1.00:1.00:1.00:60:38.3:0:0:62:83:30:NM_052939.3(FCRL3) c.-11G>C,NM_052939.3(FCRL3) c.-11G>C:0.56,0.56:0.577964,0.577964 1 157670376 . C . . NT END=157670451;NT GT ./. 1 157670502 . A . . NT END=157716525;NT GT ./. 1 157716565 . C . . NT END=157716660;NT GT ./. 1 157716690 . C . . NT END=157718342;NT GT ./. 1 157718283 rs6696643 A T 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.05511,T/0.9449;Gene=FCRL2/NM_001159488.1/0;CC=c.1307+1157T>A;VC=Intron;Gene=FCRL2/NM_030764.3/1;CC=c.1459+60T>A;VC=Intron;Gene=FCRL2/NR_125358.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:19:0:0:19:629:71.96:64.31:7.65:1.00:1.00:1.00:70:37.7:0:0:30:113:22:NM_030764.3(FCRL2) c.1459+60T>A,NM_030764.3(FCRL2) c.1459+60T>A:0.92,0.92:0.869251,0.869251 1 157718409 . C . . NT END=157718664;NT GT ./. 1 157718751 . C . . NT END=157719439;NT GT ./. 1 157719468 . C . . NT END=157736644;NT GT ./. 1 157736762 . C . . NT END=157737020;NT GT ./. 1 157737300 . C . . NT END=157738203;NT GT ./. 1 157737504 rs2873413 G A 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.405,A/0.595;Gene=FCRL2/NM_001159488.1/0;CC=c.884-205C>T;VC=Intron;Gene=FCRL2/NM_030764.3/1;CC=c.884-205C>T;VC=Intron;Gene=FCRL2/NR_125358.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:0:0:0:14:417:48.32:0.00:48.32:1.00:0.00:1.00:60:44.2:0:0:104:41:16:NM_030764.3(FCRL2) c.884-205C>T,NM_030764.3(FCRL2) c.884-205C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 157738492 . C . . NT END=157739655;NT GT ./. 1 157739860 rs56044169 G A 183 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.9994,A/0.000599;NP=13;Gene=FCRL2/NM_001159488.1/0;CC=c.391C>T;ProtCh=p.R131W;VC=Missense;Gene=FCRL2/NM_030764.3/1;CC=c.391C>T;ProtCh=p.R131W;VC=Missense;Gene=FCRL2/NR_125358.1/0;VC=NonCoding;DM=FCRL2/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:113:77:0:0:56,57:1901,1760:182.81,0.00:95.84,0.00:86.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,4.9:0,0:0,0:65,61:77,88:34,29:NM_030764.3(FCRL2) c.391C>T (p.Arg131Trp),-:0.0014,-:0.001076,- 1 157739941 . C . . NT END=157740198;NT GT ./. 1 157740186 rs10540465 GTC G 177 nt VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=GTC/0.4411,G/0.5589;NP=2178;Gene=FCRL2/NM_001159488.1/0;CC=c.310+11_310+12delGA;VC=Intron;Gene=FCRL2/NM_030764.3/1;CC=c.310+11_310+12delGA;VC=Intron;Gene=FCRL2/NR_125358.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:GTC,G:54:41:0:51:4,50:119,1612:0.00,176.81:0.00,105.35:0.00,71.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:50.0,9.2:0,2:0,0:145,62:1,88:4,29:NM_030764.3(FCRL2) c.310+11_310+12delGA,NM_030764.3(FCRL2) c.310+11_310+12delGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 157740189 rs57139984 A G 185 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.4411,G/0.5589;Gene=FCRL2/NM_001159488.1/0;CC=c.310+10T>C;VC=Intron;Gene=FCRL2/NM_030764.3/1;CC=c.310+10T>C;VC=Intron;Gene=FCRL2/NR_125358.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:G:51:38:0:1:51:1605:184.76:109.22:75.55:1.00:1.00:1.00:60:5.4:51:0:63:87:31:NM_030764.3(FCRL2) c.310+10T>C,NM_030764.3(FCRL2) c.310+10T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 157740457 . C . . NT END=157745564;NT GT ./. 1 157745586 . C . . NT END=157746832;NT GT ./. 1 157747061 . G . . NT END=157765888;NT GT ./. 1 157765961 . C . . NT END=157766890;NT GT ./. 1 157766923 . C . . NT END=157767548;NT GT ./. 1 157767362 rs12132140 C T 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9702,T/0.02975;PC=0.031;Gene=FCRL1/NM_001159397.1/0;CC=c.1059+187G>A;VC=Intron;Gene=FCRL1/NM_001159398.1/1;CC=c.1186+296G>A;VC=Intron;Gene=FCRL1/NM_052938.4/0;CC=c.1186+296G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,T:10:10:0:0:4,6:132,185:0.00,18.43:0.00,18.43:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,65.7:0,0:0,0:92,37:59,114:2,27:-,NM_052938.4(FCRL1) c.1186+296G>A:-,0.03:-,NOT_FOUND 1 157767519 rs41273453 C T 85 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.9774,T/0.02256;Gene=FCRL1/NM_001159397.1/0;CC=c.1059+30G>A;VC=Intron;Gene=FCRL1/NM_001159398.1/1;CC=c.1186+139G>A;VC=Intron;Gene=FCRL1/NM_052938.4/0;CC=c.1186+139G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:50:0:0:31,28:1014,895:0.00,85.14:0.00,58.95:0.00,26.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,40.4:0,0:0,0:25,46:124,92:14,25:-,NM_052938.4(FCRL1) c.1186+139G>A:-,0.03:-,0.052343 1 157767611 . C . . NT END=157767657;NT GT ./. 1 157767730 . C . . NT END=157767950;NT GT ./. 1 157768000 rs3811024 G C 158 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.7688,C/0.2312;Gene=FCRL1/NM_001159397.1/0;CC=c.948C>G;ProtCh=p.T316=;VC=Silent;Gene=FCRL1/NM_001159398.1/1;CC=c.1065C>G;ProtCh=p.T355=;VC=Silent;Gene=FCRL1/NM_052938.4/0;CC=c.1065C>G;ProtCh=p.T355=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:26:0:0:43:1374:157.90:71.66:86.24:1.00:1.00:1.00:60:44.4:0:0:79:66:21:NM_052938.4(FCRL1) c.1065C>G (p.(=)),NM_052938.4(FCRL1) c.1065C>G (p.(=)):0.24,0.24:0.267492,0.267492 1 157768034 . C . . NT END=157769847;NT GT ./. 1 157769876 . C . . NT END=157771250;NT GT ./. 1 157771368 . C . . NT END=157771704;NT GT ./. 1 157771984 . C . . NT END=157772166;NT GT ./. 1 157772455 . C . . NT END=157773634;NT GT ./. 1 157773902 . C . . NT END=157776891;NT GT ./. 1 157774046 rs58457829 C A,CA 58 idl,nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8281,CA/0.1719;DB;DBA=NA;PAF=C/0.8281,CA/0.1719,CC/.,CCA/.,CCCC/.;NP=3;NP=70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:71:A,CA:21:0:18:0:4,17:104,549:9.38,58.39:0.00,0.00:9.38,58.39:0.00,1.00:0.00,0.00:0.00,1.00:60,60:57.8,22.9:0,1:0,0:63,106:87,43:30,31:NM_052938.4(FCRL1) c.53-145G>T,NM_052938.4(FCRL1) c.53-146_53-145insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 157776913 . C . . NT END=157789796;NT GT ./. 1 157789828 . G . . NT END=157800703;NT GT ./. 1 157801230 . GA G 33 idl,rn VT=DEL;SST=Single;DP=96;NP=8;Gene=CD5L/NM_005894.2/1;CC=c.*523delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,GA,I,G:92:66:10:17:1,68,10,13:10,2145,309,553:-0.20,0.00,22.62,32.93:-0.17,0.00,11.72,14.89:-0.02,0.00,10.89,18.04:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,70,60:20.0,9.8,8.8,10.4:0,0,0,4:0,0,0,0:20,69,54,80:130,69,96,65:0,28,28,27:-,NM_005894.2(CD5L) c.*511T[12]:-,NOT_FOUND:-,NOT_FOUND 1 157801759 . C . . NT END=157802981;NT GT ./. 1 157803303 . C . . NT END=157804196;NT GT ./. 1 157804539 . C . . NT END=157805624;NT GT ./. 1 157805946 . C . . NT END=157809173;NT GT ./. 1 157809201 . C . . NT END=157811463;NT GT ./. 1 157811492 . G . . NT END=157963466;NT GT ./. 1 157894797 rs3923515 T C 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1781,C/0.8219 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:15:0:0:17:513:59.33:51.58:7.75:1.00:1.00:1.00:60:49.2:0:0:71:80:25:chr1 g.157894796T>C (intergenic),chr1 g.157894796T>C (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 157963519 . G . . NT END=158045902;NT GT ./. 1 158039092 rs59269766 TTGTGTG T 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TTGTGTG/0.2736,T/0.7264;NP=56;PC=0.020;Gene=KIRREL/NM_001286349.1/0;CC=c.53-15083_53-15078delTGTGTG;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.53-6774_53-6769delTGTGTG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:TTGTGTG,I,T:8:4:1:3:4,1,3:111,29,96:0.00,2.24,8.94:0.00,-0.12,2.95:0.00,2.36,5.99:0.00,0.00,0.67:0.00,0.00,0.85:0.00,0.00,0.93:60,60,60:12.5,79.0,7.0:0,0,0:0,0,0:119,92,93:28,59,57:22,0,12:-,NM_018240.5(KIRREL) c.53-6810_53-6805delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 158039135 rs75416677 A T 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8229,T/0.1771;NP=252;Gene=KIRREL/NM_001286349.1/0;CC=c.53-15077A>T;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.53-6768A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,T:9:2:0:0:4,5:105,160:0.00,15.73:0.00,1.53:0.00,14.19:0.00,0.96:0.00,0.84:0.00,0.96:60,60:17.0,51.8:0,0:0,0:130,100:17,15:6,44:-,NM_018240.5(KIRREL) c.53-6768A>T:-,NOT_FOUND:-,NOT_FOUND 1 158045655 rs11264899 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3474,G/0.6526;Gene=KIRREL/NM_001286349.1/0;CC=c.53-8557A>G;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.53-248A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:211:23.96:23.96:0.00:1.00:1.00:0.00:60:67.2:0:0:27:124:15:NM_018240.5(KIRREL) c.53-248A>G,NM_018240.5(KIRREL) c.53-248A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 158045749 rs11264900 A G 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3496,G/0.6504;Gene=KIRREL/NM_001286349.1/0;CC=c.53-8463A>G;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.53-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:17:0:0:17:506:58.65:58.65:0.00:1.00:1.00:0.00:60:67.4:0:0:73:76:39:NM_018240.5(KIRREL) c.53-154A>G,NM_018240.5(KIRREL) c.53-154A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 158046053 . G . . NT END=158047780;NT GT ./. 1 158047601 rs11264901 A G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3486,G/0.6514;PC=0.009;Gene=KIRREL/NM_001286349.1/0;CC=c.53-6611A>G;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.203-180A>G;VC=Intron;DM=KIRREL/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:321:37.22:37.22:0.00:1.00:1.00:0.00:60:37.6:0:0:31:120:16:NM_018240.5(KIRREL) c.203-180A>G,NM_018240.5(KIRREL) c.203-180A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 158047931 . G . . NT END=158054211;NT GT ./. 1 158048121 rs12407124 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5058,A/0.4942;Gene=KIRREL/NM_001286349.1/0;CC=c.53-6091G>A;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.352+191G>A;VC=Intron;DM=KIRREL/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,G:9:0:0:0:4,5:116,143:10.81,0.00:0.00,0.00:10.81,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:34.8,38.6:0,0:0,0:79,68:72,83:15,26:NM_018240.5(KIRREL) c.352+191G>A,-:0.51,-:NOT_FOUND,- 1 158048152 rs34648101 C T 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9673,T/0.03275;Gene=KIRREL/NM_001286349.1/0;CC=c.53-6060C>T;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.352+222C>T;VC=Intron;DM=KIRREL/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,T:9:0:0:0:4,5:112,132:0.00,12.87:0.00,0.00:0.00,12.87:0.00,0.96:0.00,0.00:0.00,0.96:60,60:34.8,44.2:0,0:0,0:110,83:41,68:15,23:-,NM_018240.5(KIRREL) c.352+222C>T:-,0.05:-,NOT_FOUND 1 158054370 . G . . NT END=158056385;NT GT ./. 1 158054379 rs927662 A G 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.6474,G/0.3526;Gene=KIRREL/NM_001286349.1/0;CC=c.210+10A>G;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.510+10A>G;VC=Intron;DM=KIRREL/Ig_2;DM=KIRREL/C2-set_2;DM=KIRREL/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:75:32:0:0:36,39:1188,1209:0.00,116.93:0.00,27.88:0.00,89.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,34.4:0,0:0,0:80,89:65,62:40,35:-,NM_018240.5(KIRREL) c.510+10A>G:-,0.33:-,NOT_FOUND 1 158056213 rs61585802 A AACAC 18 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8734,AAC/0.1266,AACAC/.;DB;DBA=NA;PAF=A/0.6008,AACAC/0.3992;DB;DBA=NA;PAF=A/0.8734,AAC/0.1266,AACAC/.;NP=1;NP=16;NP=61;PC=0.137;Gene=KIRREL/NM_001286349.1/0;CC=c.211-146_211-145insCACA;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.511-146_511-145insCACA;VC=Intron;DM=KIRREL/Ig_2;DM=KIRREL/C2-set_2;DM=KIRREL/Ig_2;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,AACAC,D:17:17:7:1:9,7,1:248,195,33:0.00,17.94,2.31:0.00,17.94,2.31:0.00,0.00,0.00:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.00,0.00:60,60,60:18.7,30.3,0.0:0,0,0:0,0,0:47,49,21:104,102,130:38,10,0:-,NM_018240.5(KIRREL) c.511-173_511-172insACAC:-,NOT_FOUND:-,NOT_FOUND 1 158056299 rs7367384 C G 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.5751,A/.,G/0.4249;Gene=KIRREL/NM_001286349.1/0;CC=c.211-87C>G;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.511-87C>G;VC=Intron;DM=KIRREL/Ig_2;DM=KIRREL/C2-set_2;DM=KIRREL/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:42:0:0:23,23:641,627:0.00,59.71:0.00,49.65:0.00,10.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,39.0:0,0:0,0:72,50:78,100:33,34:-,NM_018240.5(KIRREL) c.511-87C>G:-,0.45:-,NOT_FOUND 1 158056537 . G . . NT END=158057544;NT GT ./. 1 158056651 rs7364493 A G 85 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4876,G/0.5124;PC=0.011;Gene=KIRREL/NM_001286349.1/0;CC=c.361+115A>G;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.661+115A>G;VC=Intron;DM=KIRREL/Ig_2;DM=KIRREL/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:1:0:0:22:750:85.49:1.59:83.90:1.00:1.00:1.00:60:58.8:0:0:113:33:25:NM_018240.5(KIRREL) c.661+115A>G,NM_018240.5(KIRREL) c.661+115A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 158057420 rs7514301 A T 75 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5194,T/0.4806;Gene=KIRREL/NM_001286349.1/0;CC=c.362-125A>T;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.662-125A>T;VC=Intron;DM=KIRREL/Ig_2;DM=KIRREL/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:646:75.00:73.06:1.94:1.00:1.00:1.00:60:40.4:0:0:40:111:38:NM_018240.5(KIRREL) c.662-125A>T,NM_018240.5(KIRREL) c.662-125A>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 158057651 . G . . NT END=158057795;NT GT ./. 1 158057945 . G . . NT END=158058116;NT GT ./. 1 158058109 rs6427419 C A 342 nt VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.5475,A/0.4525;Gene=KIRREL/NM_001286349.1/0;CC=c.617-8C>A;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.917-8C>A;VC=Intron;DM=KIRREL/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:98:58:0:0:96,1,1:2986,11,11:341.95,0.00,0.12:159.23,0.00,0.00:182.72,0.00,0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.8,38.0,131.0:0,0,0:0,0,0:82,64,35:65,87,116:41,0,0:NM_018240.5(KIRREL) c.917-8C>A,NM_018240.5(KIRREL) c.917-8C>A:0.46,0.46:0.3839,0.3839 1 158058245 . G . . NT END=158059243;NT GT ./. 1 158058266 rs139451609 CTT C 12 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.007;Gene=KIRREL/NM_001286349.1/0;CC=c.744+47_744+48delTT;VC=Intron;Gene=KIRREL/NM_018240.6/1;CC=c.1044+47_1044+48delTT;VC=Intron;DM=KIRREL/Ig_2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:CTT,T,C:35:19:0:18:28,1,6:896,10,424:0.00,-0.08,12.40:0.00,-0.13,0.56:0.00,0.05,11.83:0.00,0.00,0.86:0.00,0.00,0.87:0.00,0.00,0.98:60,60,60:15.4,19.0,84.2:0,0,9:0,0,0:124,66,103:23,85,47:19,0,14:-,NM_018240.5(KIRREL) c.1044+23_1044+24delTT:-,NOT_FOUND:-,NOT_FOUND 1 158059419 . G . . NT END=158059507;NT GT ./. 1 158059609 . G . . NT END=158061147;NT GT ./. 1 158061347 . G . . NT END=158063128;NT GT ./. 1 158063237 . G . . NT END=158063412;NT GT ./. 1 158063553 . G . . NT END=158064102;NT GT ./. 1 158064181 . G . . NT END=158064433;NT GT ./. 1 158064911 . G . . NT END=158150891;NT GT ./. 1 158150953 . G . . NT END=158151244;NT GT ./. 1 158151512 . G . . NT END=158151821;NT GT ./. 1 158152101 . G . . NT END=158152667;NT GT ./. 1 158152947 . G . . NT END=158153725;NT GT ./. 1 158153826 . G . . NT END=158153918;NT GT ./. 1 158153941 . C . . NT END=158218176;NT GT ./. 1 158153996 rs426336 T C 204 nt VT=SNV;PN=C;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.00639,C/0.9936;Gene=CD1D/NM_001766.3/1;CC=c.*56T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C,T:58:20:0:0:57,1:1785,7:204.12,0.00:43.30,0.00:160.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,58.0:0,0:0,0:95,81:52,70:27,0:NM_001766.3(CD1D) c.*56T>C,NM_001766.3(CD1D) c.*56T>C:0.99,0.99:0.994744,0.994744 1 158165578 rs1633127 G A 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5278,A/0.4722;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:13:0:0:14:433:49.92:40.53:9.39:1.00:1.00:1.00:60:96.1:0:0:29:122:13:chr1 g.158165577G>A (intergenic),chr1 g.158165577G>A (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 1 158165601 rs1633128 T C 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.5278,C/0.4722;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:15:0:0:16:533:60.93:50.94:9.99:1.00:1.00:1.00:60:101.9:0:0:49:99:13:chr1 g.158165600T>C (intergenic),chr1 g.158165600T>C (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 1 158165661 rs382436 T C 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1755,C/0.8245;PC=0.040 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A,C:26:24:0:0:1,25:11,758:0.36,87.27:0.36,76.19:0.00,11.08:0.00,1.00:0.00,1.00:0.00,1.00:54,60:224.0,105.7:0,0:0,0:22,54:128,97:0,40:chr1 g.158165660T>C (intergenic),chr1 g.158165660T>C (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 1 158165722 rs1633129 G A 127 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.5278,A/0.4722;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:31:0:0:35:1102:126.84:109.41:17.43:1.00:1.00:1.00:60:91.3:0:0:61:90:30:chr1 g.158165721G>A (intergenic),chr1 g.158165721G>A (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 1 158165742 rs1633130 A T 158 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.5278,T/0.4722;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:T:45:41:0:0:45:1368:158.16:132.22:25.94:1.00:1.00:1.00:60:74.3:0:0:50:100:36:chr1 g.158165741A>T (intergenic),chr1 g.158165741A>T (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 1 158165938 rs1633131 A C 122 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.5278,C/0.4722,T/.;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:0:0:0:37:1048:122.26:0.00:122.26:1.00:0.00:1.00:60:48.9:0:0:115:36:25:chr1 g.158165937A>C (intergenic),chr1 g.158165937A>C (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 1 158165984 rs1633132 C T 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5278,T/0.4722;PC=0.038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:528:60.86:0.00:60.86:1.00:0.00:1.00:60:65.2:0:0:89:62:28:chr1 g.158165983C>T (intergenic),chr1 g.158165983C>T (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 1 158166114 rs1690776 C G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5278,G/0.4722;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:119:13.78:0.00:13.78:1.00:0.00:1.00:60:30.2:0:0:42:108:17:chr1 g.158166113C>G (intergenic),chr1 g.158166113C>G (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 1 158218202 . G . . NT END=158223926;NT GT ./. 1 158224282 rs366316 A G 220 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=A/0.6536,G/0.3464;Gene=CD1A/NM_001763.2/1;CC=c.-178A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:132:86:0:0:61,71:2022,2255:0.00,219.76:0.00,113.94:0.00,105.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,38.4:0,0:0,0:68,94:79,55:37,33:-,NM_001763.2(CD1A) c.-178A>G:-,0.31:-,NOT_FOUND 1 158224518 . G . . NT END=158224873;NT GT ./. 1 158224575 rs565242912 CTGTGTG C 9 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=35;Gene=CD1A/NM_001763.2/1;CC=c.58+101_58+106delTGTGTG;VC=Intron;DM=CD1A/MHC_I_3;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:CTGTGTG,G,C:22:7:0:11:17,1,4:576,21,268:0.00,0.89,8.60:0.00,1.10,1.28:0.00,-0.22,7.31:0.00,0.00,0.66:0.00,0.00,0.62:0.00,0.00,0.94:60,60,60:14.4,55.0,58.0:0,0,6:0,0,0:138,115,72:13,32,79:6,0,25:-,NM_001763.2(CD1A) c.58+59_58+64delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 158224577 rs9726125 G C 21 sb;idl;end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.09864,C/0.9014;PC=0.003;Gene=CD1A/NM_001763.2/1;CC=c.58+60G>C;VC=Intron;DM=CD1A/MHC_I_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:4:0:13:7,9:223,297:20.88,0.00:-0.87,0.00:21.75,0.00:0.98,0.00:0.90,0.00:1.00,0.00:60,60:31.9,8.4:0,0:0,0:146,126:2,22:0,15:NM_001763.2(CD1A) c.58+60G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 158224825 rs411089 C T 49 nt VT=SNV;PN=T;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.4573,T/0.5427;PC=0.001;Gene=CD1A/NM_001763.2/1;CC=c.59-49C>T;VC=Intron;DM=CD1A/MHC_I_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:41:0:0:31,19:1024,545:0.00,49.09:0.00,43.05:0.00,6.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,36.5:0,0:0,0:79,53:72,97:40,25:-,NM_001763.2(CD1A) c.59-49C>T:-,0.48:-,0.409657 1 158225141 . G . . NT END=158225793;NT GT ./. 1 158225583 rs138894490 T C 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9972,C/0.002796;NP=2;Gene=CD1A/NM_001763.2/1;CC=c.326-211T>C;VC=Intron;DM=CD1A/MHC_I_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:5:0:0:2,3:70,97:6.49,0.00:6.49,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:35.0,11.0:0,0:0,0:80,91:70,60:26,16:NM_001763.2(CD1A) c.326-211T>C,-:0.0014,-:NOT_FOUND,- 1 158226073 . G . . NT END=158226575;NT GT ./. 1 158226348 rs188830285 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.9972,C/0.002796;NP=1;PC=0.001;Gene=CD1A/NM_001763.2/1;CC=c.605-228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:13:0:0:7,8:239,248:22.74,0.00:23.29,0.00:-0.55,0.00:0.99,0.00:1.00,0.00:0.76,0.00:60,60:43.6,23.6:0,0:0,0:57,37:94,112:38,25:NM_001763.2(CD1A) c.605-228T>C,-:0.0014,-:NOT_FOUND,- 1 158226465 . C CA 22 idl,rn VT=INS;SST=Single;DP=55;NP=1;PC=0.002;Gene=CD1A/NM_001763.2/1;CC=c.605-97_605-96insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,T,CA,D:53:54:10:5:39,1,9,4:1155,11,308,143:0.00,-0.10,22.01,7.39:0.00,-0.09,22.12,7.44:0.00,-0.01,-0.12,-0.05:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.42,0.00:60,60,60,60:30.6,75.0,33.3,32.0:0,0,1,1:0,0,0,0:39,149,37,34:108,1,114,117:29,0,19,30:-,NM_001763.2(CD1A) c.605-111_605-110insA:-,NOT_FOUND:-,NOT_FOUND 1 158226667 rs1042388 C T 379 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=282;DB;DBA=NA;PAF=C/0.9663,T/0.03375;Gene=CD1A/NM_001763.2/1;CC=c.696C>T;ProtCh=p.P232=;VC=Silent;DM=CD1A/C1-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:282:194:0:0:157,1,124:4887,5,4034:0.00,-0.26,378.76:0.00,-0.12,199.04:0.00,-0.14,179.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.1,97.0,35.8:0,0,0:0,0,0:70,26,65:77,123,79:33,0,33:-,NM_001763.2(CD1A) c.696C>T (p.(=)):-,0.05:-,0.067605 1 158226855 . G . . NT END=158227210;NT GT ./. 1 158227302 . G . . NT END=158227470;NT GT ./. 1 158227481 . G . . NT END=158259854;NT GT ./. 1 158259916 . G . . NT END=158260923;NT GT ./. 1 158260878 rs375739413 CT C 11 idl,rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=24;Gene=CD1C/NM_001765.2/1;CC=c.62-33delT;VC=Intron;DM=CD1C/MHC_I_3;DM=CD1C/MHC_I_3;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:CT,I,C:55:53:4:6:46,4,5:1486,114,188:0.00,7.25,10.78:0.00,1.85,9.64:0.00,5.40,1.14:0.00,0.00,0.70:0.00,0.00,0.97:0.00,0.00,0.63:60,60,60:34.8,60.0,53.4:0,0,1:0,0,0:48,66,67:100,84,80:27,18,25:-,NM_001765.2(CD1C) c.62-45delT:-,NOT_FOUND:-,NOT_FOUND 1 158261191 . G . . NT END=158261873;NT GT ./. 1 158262156 . G . . NT END=158262385;NT GT ./. 1 158262665 . G . . NT END=158263001;NT GT ./. 1 158263093 . G . . NT END=158263244;NT GT ./. 1 158263397 . T . . NT END=158298025;NT GT ./. 1 158297960 rs16840096 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8061,T/0.1939;Gene=CD1B/NM_001764.2/1;CC=c.*66G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:C,T:15:14:0:0:10,5:322,118:0.00,10.02:0.00,7.41:0.00,2.61:0.00,0.89:0.00,0.99:0.00,0.89:60,60:6.2,23.6:0,0:0,0:56,20:94,130:29,14:-,NM_001764.2(CD1B) c.*66G>A:-,0.17:-,0.098555 1 158298048 . C . . NT END=158298710;NT GT ./. 1 158298329 rs3176843 A T 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7009,T/0.2991;Gene=CD1B/NM_001764.2/1;CC=c.981-282T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:5:1:0:0:1,4:34,137:0.00,14.52:0.00,-0.70:0.00,15.22:0.00,0.96:0.00,0.87:0.00,1.00:60,60:0.0,55.2:0,0:0,0:120,96:31,54:0,27:-,NM_001764.2(CD1B) c.981-282T>A:-,0.29:-,NOT_FOUND 1 158298357 rs3176842 G A 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5921,A/0.4079;PC=0.001;Gene=CD1B/NM_001764.2/1;CC=c.981-310C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,G:4:1:0:0:3,1:73,27:7.70,0.00:-0.60,0.00:8.30,0.00:0.85,0.00:0.83,0.00:0.99,0.00:60,60:62.3,0.0:0,0:0,0:107,148:44,3:34,0:NM_001764.2(CD1B) c.981-310C>T,-:0.37,-:NOT_FOUND,- 1 158298679 rs199678441 T TA 7 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=9;Gene=CD1B/NM_001764.2/1;CC=c.980+31dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,T,TA,D:28:26:3:2:1,22,3,2:8,690,95,63:-0.16,0.00,6.94,4.26:-0.29,0.00,5.76,4.37:0.13,0.00,1.18,-0.11:0.00,0.00,0.44,0.00:0.00,0.00,0.87,0.00:0.00,0.00,0.55,0.00:60,60,60,60:142.0,5.0,21.0,0.0:0,0,0,0:0,0,0,0:67,57,34,48:84,85,115,102:0,48,22,12:-,NM_001764.2(CD1B) c.980+31_980+32insT:-,NOT_FOUND:-,NOT_FOUND 1 158298805 . C . . NT END=158299159;NT GT ./. 1 158299439 . C . . NT END=158299641;NT GT ./. 1 158299840 rs35841099 C T 93 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.9952,G/.,T/0.004792;NP=98;Gene=CD1B/NM_001764.2/1;CC=c.409G>A;ProtCh=p.G137R;VC=Missense;DM=CD1B/MHC_I_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:40:0:0:44,30:1425,1003:0.00,92.92:0.00,44.49:0.00,48.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,35.2:0,0:0,0:68,101:82,39:30,34:-,NM_001764.2(CD1B) c.409G>A (p.Gly137Arg):-,0.01:-,0.01061 1 158299921 . C . . NT END=158300585;NT GT ./. 1 158300853 . C . . NT END=158301152;NT GT ./. 1 158301214 . T . . NT END=158323778;NT GT ./. 1 158323837 . G . . NT END=158324166;NT GT ./. 1 158323863 rs71632610 C T 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.9908,T/0.009185;Gene=CD1E/NM_001042583.2/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001042584.2/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001042585.2/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001042586.2/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001042587.2/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001185107.1/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001185108.1/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001185110.1/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001185112.1/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001185113.1/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001185114.1/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_001185115.1/0;CC=c.58+27C>T;VC=Intron;Gene=CD1E/NM_030893.3/1;CC=c.58+27C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:22:0:0:24,12:740,356:0.00,31.38:0.00,10.29:0.00,21.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.2,33.3:0,0:0,0:96,131:46,12:30,8:-,NM_030893.3(CD1E) c.58+27C>T:-,0.02:-,0.021222 1 158324425 rs1065457 A G 226 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.3836,G/0.6164;Gene=CD1E/NM_001042583.2/0;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=CD1E/NM_001042584.2/0;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=CD1E/NM_001042585.2/0;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=CD1E/NM_001042586.2/0;CC=c.58+589A>G;VC=Intron;Gene=CD1E/NM_001042587.2/0;CC=c.58+589A>G;VC=Intron;Gene=CD1E/NM_001185107.1/0;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=CD1E/NM_001185108.1/0;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=CD1E/NM_001185110.1/0;CC=c.58+589A>G;VC=Intron;Gene=CD1E/NM_001185112.1/0;CC=c.58+589A>G;VC=Intron;Gene=CD1E/NM_001185113.1/0;CC=c.58+589A>G;VC=Intron;Gene=CD1E/NM_001185114.1/0;CC=c.58+589A>G;VC=Intron;Gene=CD1E/NM_001185115.1/0;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=CD1E/NM_030893.3/1;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;DM=CD1E/MHC_I_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:A,G:66:25:0:0:1,65:35,1970:0.00,225.57:0.00,57.98:0.00,167.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,39.1:0,0:0,0:138,90:13,55:0,37:NM_030893.3(CD1E) c.317A>G (p.Gln106Arg),NM_030893.3(CD1E) c.317A>G (p.Gln106Arg):0.55,0.55:0.482269,0.482269 1 158324464 . G . . NT END=158325089;NT GT ./. 1 158324923 rs71753037 TCAAATTTTCTTCCCA T 20 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TCAAATTTTCTTCCCA/0.6268,T/0.3732;DB;DBA=NA;PAF=TCAAATTTTCTTCCCA/0.6268,T/0.3732;NP=496;Gene=CD1E/NM_001042583.2/0;CC=c.356-152_356-138delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001042584.2/0;CC=c.356-152_356-138delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001042585.2/0;CC=c.356-152_356-138delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001042586.2/0;CC=c.59-679_59-665delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001042587.2/0;CC=c.59-679_59-665delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001185107.1/0;CC=c.355+475_355+489delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001185108.1/0;CC=c.355+475_355+489delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001185110.1/0;CC=c.59-679_59-665delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001185112.1/0;CC=c.59-679_59-665delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001185113.1/0;CC=c.59-679_59-665delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001185114.1/0;CC=c.59-152_59-138delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_001185115.1/0;CC=c.355+475_355+489delACAAATTTTCTTCCC;VC=Intron;Gene=CD1E/NM_030893.3/1;CC=c.356-152_356-138delACAAATTTTCTTCCC;VC=Intron;DM=CD1E/MHC_I_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:TCAAATTTTCTTCCCA,T:9:9:0:6:3,6:101,194:0.00,19.77:0.00,19.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,3.3:0,0:0,0:67,60:84,90:40,19:-,NM_030893.3(CD1E) c.356-166_356-152delCAAATTTTCTTCCCA:-,NOT_FOUND:-,NOT_FOUND 1 158325360 . G . . NT END=158325616;NT GT ./. 1 158325896 . G . . NT END=158326287;NT GT ./. 1 158326382 . G . . NT END=158326517;NT GT ./. 1 158326447 rs571908183 C CT 33 idl,rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7434,CT/0.2566,CTT/.;DB;DBA=NA;PAF=C/0.7434,CT/0.2566;DB;DBA=NA;PAF=C/0.7434,CT/0.2566;NP=249;Gene=CD1E/NM_001042583.2/0;CC=c.998+77_998+78insT;VC=Intron;Gene=CD1E/NM_001042584.2/0;CC=c.*22-60_*22-59insT;VC=Intron;Gene=CD1E/NM_001042585.2/0;CC=c.833+77_833+78insT;VC=Intron;Gene=CD1E/NM_001042586.2/0;CC=c.431+77_431+78insT;VC=Intron;Gene=CD1E/NM_001042587.2/0;CC=c.*22-60_*22-59insT;VC=Intron;Gene=CD1E/NM_001185107.1/0;CC=c.729-60_729-59insT;VC=Intron;Gene=CD1E/NM_001185108.1/0;CC=c.563+77_563+78insT;VC=Intron;Gene=CD1E/NM_001185110.1/0;CC=c.266+77_266+78insT;VC=Intron;Gene=CD1E/NM_001185112.1/0;CC=c.432-60_432-59insT;VC=Intron;Gene=CD1E/NM_001185113.1/0;CC=c.267-60_267-59insT;VC=Intron;Gene=CD1E/NM_001185114.1/0;CC=c.702-60_702-59insT;VC=Intron;Gene=CD1E/NM_001185115.1/0;CC=c.728+77_728+78insT;VC=Intron;Gene=CD1E/NM_030893.3/1;CC=c.999-60_999-59insT;VC=Intron;DM=CD1E/C1-set;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:30:24:14:2:17,11,2:577,450,66:0.00,32.51,4.66:0.00,17.35,4.79:0.00,15.16,-0.12:0.00,1.00,0.00:0.00,0.99,0.00:0.00,0.80,0.00:60,60,60:26.6,22.0,48.0:0,3,0:0,0,0:98,65,26:53,85,124:23,21,5:-,NM_030893.3(CD1E) c.998+66_998+67insT:-,NOT_FOUND:-,NOT_FOUND 1 158326687 . C . . NT END=158368311;NT GT ./. 1 158368309 rs10489826 T G 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.8922,G/0.1078;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:28:0:0:15,16:449,497:42.68,0.00:36.22,0.00:6.46,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:37.1,6.2:0,0:0,0:48,52:95,97:37,26:chr1 g.158368308T>G (intergenic),-:0.1,-:0.079914,- 1 158368541 rs34465440 A G 309 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.6348,G/0.3652;PC=0.470;Gene=OR10T2/NM_001004475.1/1;CC=c.716T>C;ProtCh=p.V239A;VC=Missense;DM=OR10T2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:57:0:0:85:2690:309.27:173.99:135.28:1.00:1.00:1.00:60:37.4:0:0:73:72:33:NM_001004475.1(OR10T2) c.716T>C (p.Val239Ala),NM_001004475.1(OR10T2) c.716T>C (p.Val239Ala):0.32,0.32:0.33869,0.33869 1 158368846 rs6662382 T C 483 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.6348,C/0.3652;PC=1.000;Gene=OR10T2/NM_001004475.1/1;CC=c.411A>G;ProtCh=p.I137M;VC=Missense;DM=OR10T2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:130:76:0:0:130:4209:482.63:221.80:260.82:1.00:1.00:1.00:60:45.8:0:0:72:75:36:NM_001004475.1(OR10T2) c.411A>G (p.Ile137Met),NM_001004475.1(OR10T2) c.411A>G (p.Ile137Met):0.32,0.32:0.338767,0.338767 1 158368964 rs61818749 C T 153 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.898,T/0.102;PC=1.000;Gene=OR10T2/NM_001004475.1/1;CC=c.293G>A;ProtCh=p.C98Y;VC=Missense;DM=OR10T2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:117:74:0:0:62,55:1975,1622:0.00,153.21:0.00,69.78:0.00,83.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.6,80.4:0,0:0,0:88,74:62,71:36,42:-,NM_001004475.1(OR10T2) c.293G>A (p.Cys98Tyr):-,0.09:-,0.073889 1 158368974 rs61818750 A G 156 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=A/0.8914,G/0.1086;Gene=OR10T2/NM_001004475.1/1;CC=c.283T>C;ProtCh=p.F95L;VC=Missense;DM=OR10T2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:110:70:0:0:60,50:1929,1654:0.00,156.36:0.00,74.10:0.00,82.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.1,84.6:0,0:0,0:82,59:66,87:36,37:-,NM_001004475.1(OR10T2) c.283T>C (p.Phe95Leu):-,0.1:-,0.084499 1 158369064 rs41488350 A G 167 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.8914,C/.,G/0.1086;Gene=OR10T2/NM_001004475.1/1;CC=c.193T>C;ProtCh=p.F65L;VC=Missense;DM=OR10T2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:108:65:0:0:55,52,1:1764,1748,8:0.00,167.41,-0.16:0.00,88.58,-0.04:0.00,78.83,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.3,73.4,80.0:0,0,0:0,0,0:74,98,83:66,50,67:34,33,0:-,NM_001004475.1(OR10T2) c.193T>C (p.Phe65Leu):-,0.1:-,0.084499 1 158369257 . C . . NT END=158389717;NT GT ./. 1 158369319 rs6696357 C A 169 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.635,A/0.365 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:8:0:0:46:1470:168.87:17.50:151.38:1.00:1.00:1.00:60:43.9:0:0:106:45:26:NM_001004475.1(OR10T2) c.1-u63G>T,NM_001004475.1(OR10T2) c.1-u63G>T:0.32,0.32:NOT_FOUND,NOT_FOUND 1 158389630 rs57525598 G C 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7642,C/0.2358 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:17:0:0:19:608:69.80:60.31:9.49:1.00:1.00:1.00:60:66.2:0:0:53:98:18:chr1 g.158389629G>C (intergenic),chr1 g.158389629G>C (intergenic):0.25,0.25:NOT_FOUND,NOT_FOUND 1 158389659 rs58605957 T C 88 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.7194,C/0.2806 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:19:0:0:23:773:88.27:65.86:22.41:1.00:1.00:1.00:60:62.3:0:0:67:84:22:chr1 g.158389658T>C (intergenic),chr1 g.158389658T>C (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 1 158390252 rs12239443 T G 619 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=164;DB;DBA=NA;PAF=T/0.7099,G/0.2901;PC=0.054;Gene=OR10K2/NM_001004476.1/1;CC=c.405A>C;ProtCh=p.L135=;VC=Silent;DM=OR10K2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:164:104:0:0:163,1:5427,8:618.60,0.00:315.36,0.00:303.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,98.0:0,0:0,0:72,55:75,95:31,0:NM_001004476.1(OR10K2) c.405A>C (p.(=)),NM_001004476.1(OR10K2) c.405A>C (p.(=)):0.31,0.31:0.380824,0.380824 1 158390501 rs34616883 G A 442 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=G/0.7194,A/0.2806;PC=0.002;Gene=OR10K2/NM_001004476.1/1;CC=c.156C>T;ProtCh=p.D52=;VC=Silent;DM=OR10K2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:126:69:0:0:125,1:3835,10:442.32,0.08:193.23,0.00:249.09,0.08:1.00,0.00:1.00,0.00:1.00,0.00:60,58:38.6,167.0:0,0:0,0:72,44:74,107:39,0:NM_001004476.1(OR10K2) c.156C>T (p.(=)),NM_001004476.1(OR10K2) c.156C>T (p.(=)):0.3,0.3:0.371905,0.371905 1 158390657 . G . . NT END=158435351;NT GT ./. 1 158390834 rs10489830 C A 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7192,A/0.2808 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:379:44.05:0.00:44.05:1.00:0.00:1.00:60:32.2:0:0:112:39:30:NM_001004476.1(OR10K2) c.1-u178G>T,NM_001004476.1(OR10K2) c.1-u178G>T:0.3,0.3:NOT_FOUND,NOT_FOUND 1 158423922 rs12118413 G A 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7202,A/0.2798 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:241:27.44:27.44:0.00:1.00:1.00:0.00:60:34.4:0:0:68:83:40:chr1 g.158423921G>A (intergenic),chr1 g.158423921G>A (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 1 158424637 rs1844787 A C 147 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.1038,C/0.8962;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:23:0:0:41:1276:147.11:65.31:81.81:1.00:1.00:1.00:60:34.5:0:0:79:70:39:chr1 g.158424636A>C (intergenic),chr1 g.158424636A>C (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 1 158425271 rs12127971 C A 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7204,A/0.2796;PC=0.256 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:237:27.51:0.00:27.51:1.00:0.00:1.00:60:36.5:0:0:112:38:33:chr1 g.158425270C>A (intergenic),chr1 g.158425270C>A (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 1 158435250 rs1002599 C T 101 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6028,T/0.3972 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:27:0:0:27:885:101.35:101.35:0.00:1.00:1.00:0.00:60:73.7:0:0:36:114:24:NM_001004473.1(OR10K1) c.1-u102C>T,NM_001004473.1(OR10K1) c.1-u102C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 158435278 rs1573519 G A 138 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.5405,A/0.4595,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:37:0:0:38:1204:138.45:126.67:11.78:1.00:1.00:1.00:60:61.3:0:0:42:108:21:NM_001004473.1(OR10K1) c.1-u74G>A,NM_001004473.1(OR10K1) c.1-u74G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 158436294 . a . . NT END=158449667;NT GT ./. 1 158436299 rs4657080 T C 114 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.4277,C/0.5723 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:11:0:0:30:999:114.18:29.13:85.06:1.00:1.00:1.00:60:42.6:0:0:97:53:32:chr1 g.158436298T>C (intergenic),chr1 g.158436298T>C (intergenic):0.6,0.6:0.618213,0.618213 1 158436354 rs67123344 AT A 59 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=AT/0.4828,A/0.5172;DB;DBA=NA;PAF=AT/0.4828,A/0.5172;NP=2252;PC=0.001;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:AT,A:17:2:0:16:1,16:31,526:0.00,58.58:0.00,3.70:0.00,54.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.0,34.2:0,0:0,0:146,86:5,64:0,28:chr1 g.158436355delT (intergenic),chr1 g.158436355delT (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 1 158450238 rs3820678 G A 313 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.8171,A/0.1829;Gene=OR10R2/NM_001004472.1/1;CC=c.571G>A;ProtCh=p.A191T;VC=Missense;DM=OR10R2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:89:39:0:0:89:2703:312.63:119.46:193.17:1.00:1.00:1.00:60:53.6:0:0:78:72:36:NM_001004472.1(OR10R2) c.571G>A (p.Ala191Thr),NM_001004472.1(OR10R2) c.571G>A (p.Ala191Thr):0.19,0.19:0.1823,0.1823 1 158450314 rs6679056 A G 315 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.5036,G/0.4964;PC=0.008;Gene=OR10R2/NM_001004472.1/1;CC=c.647A>G;ProtCh=p.E216G;VC=Missense;DM=OR10R2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:84:43:0:0:1,83:13,2760:0.22,315.14:0.00,141.07:0.22,174.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.0,69.3:0,0:0,0:6,70:144,80:0,48:NM_001004472.1(OR10R2) c.647A>G (p.Glu216Gly),NM_001004472.1(OR10R2) c.647A>G (p.Glu216Gly):0.55,0.55:0.515608,0.515608 1 158450382 rs1418843 C T 313 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.5653,T/0.4347;Gene=OR10R2/NM_001004472.1/1;CC=c.715C>T;ProtCh=p.L239F;VC=Missense;DM=OR10R2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:87:61:0:0:1,86:35,2748:0.00,313.39:0.00,176.92:0.00,136.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,56.6:0,0:0,0:25,74:126,76:0,36:NM_001004472.1(OR10R2) c.715C>T (p.Leu239Phe),NM_001004472.1(OR10R2) c.715C>T (p.Leu239Phe):0.47,0.47:0.41873,0.41873 1 158450676 . A . . NT END=158516917;NT GT ./. 1 158493852 rs7514968 A T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4333,T/0.5667;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:131:15.44:5.06:10.37:1.00:1.00:1.00:60:90.2:0:0:37:113:26:chr1 g.158493851A>T (intergenic),chr1 g.158493851A>T (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 158493890 rs7525362 G C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4333,C/0.5667;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:125:14.41:3.88:10.53:1.00:1.00:1.00:60:94.8:0:0:110:34:16:chr1 g.158493889G>C (intergenic),chr1 g.158493889G>C (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 158494693 rs12145401 A G 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4333,G/0.5667;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:8:0:0:9:304:34.69:22.61:12.08:1.00:1.00:1.00:60:36.6:0:0:33:118:8:chr1 g.158494692A>G (intergenic),chr1 g.158494692A>G (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 158495001 rs6663277 A T 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4333,T/0.5667;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:19:0:0:21:695:79.51:60.23:19.28:1.00:1.00:1.00:60:33.1:0:0:51:100:33:chr1 g.158495000A>T (intergenic),chr1 g.158495000A>T (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 158495209 rs6699473 C T 153 nt VT=SNV;PN=G;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.4331,T/0.5669;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:27:0:0:43:1322:152.64:88.51:64.13:1.00:1.00:1.00:60:38.9:0:0:73:78:39:chr1 g.158495208C>T (intergenic),chr1 g.158495208C>T (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 158495431 rs6674656 G A 95 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4333,A/0.5667;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:11:0:0:25:834:95.32:31.27:64.06:1.00:1.00:1.00:60:38.6:0:0:98:53:30:chr1 g.158495430G>A (intergenic),chr1 g.158495430G>A (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 158517896 . G . . NT END=158532440;NT GT ./. 1 158532295 rs7534319 G C 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4814,C/0.5186 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:306:34.89:34.89:0.00:1.00:1.00:0.00:60:54.7:0:0:41:106:18:chr1 g.158532294G>C (intergenic),chr1 g.158532294G>C (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 1 158532405 rs7526514 T G 123 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4972,G/0.5028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:31:0:0:32:1075:122.76:109.09:13.67:1.00:1.00:1.00:60:41.4:0:0:45:104:33:chr1 g.158532404T>G (intergenic),chr1 g.158532404T>G (intergenic):0.54,0.54:0.490145,0.490145 1 158533140 rs12080815 A G 360 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.496,G/0.504;PC=0.002;Gene=OR6P1/NM_001160325.1/1;CC=c.255T>C;ProtCh=p.F85=;VC=Silent;DM=OR6P1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:51:0:0:98:3137:360.35:149.18:211.17:1.00:1.00:1.00:60:55.4:0:0:65:84:30:NM_001160325.1(OR6P1) c.255T>C (p.(=)),NM_001160325.1(OR6P1) c.255T>C (p.(=)):0.54,0.54:0.490364,0.490364 1 158533224 rs12081915 A G 345 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.4734,G/0.5266;Gene=OR6P1/NM_001160325.1/1;CC=c.171T>C;ProtCh=p.R57=;VC=Silent;DM=OR6P1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:94:47:0:0:94:3003:344.96:140.30:204.67:1.00:1.00:1.00:60:57.9:0:0:68:74:35:NM_001160325.1(OR6P1) c.171T>C (p.(=)),NM_001160325.1(OR6P1) c.171T>C (p.(=)):0.55,0.55:0.514017,0.514017 1 158533395 . G . . NT END=158548708;NT GT ./. 1 158549264 rs863360 G A 402 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.4976,A/0.5024;PC=0.999;Gene=OR10X1/NM_001004477.1/1;CC=c.426C>T;ProtCh=p.I142=;VC=Silent;DM=OR10X1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:112:76:0:0:111,1:3497,11:402.03,0.12:220.99,0.00:181.04,0.12:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,273.0:0,0:0,0:71,23:76,127:34,0:NM_001004477.1(OR10X1) c.426C>T (p.(=)),NM_001004477.1(OR10X1) c.426C>T (p.(=)):0.53,0.53:0.486314,0.486314 1 158549420 rs863361 C T 341 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.4816,T/0.5184;Gene=OR10X1/NM_001004477.1/1;CC=c.270G>A;ProtCh=p.T90=;VC=Silent;DM=OR10X1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:93:49:0:0:93:2969:341.02:135.38:205.64:1.00:1.00:1.00:60:60.3:0:0:94:56:32:NM_001004477.1(OR10X1) c.270G>A (p.(=)),NM_001004477.1(OR10X1) c.270G>A (p.(=)):0.55,0.55:0.503998,0.503998 1 158549492 rs863362 C T 294 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.4976,T/0.5024;Gene=OR10X1/NM_001004477.1/1;CC=c.198G>A;ProtCh=p.W66*;VC=Nonsense;DM=OR10X1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:79:47:0:0:1,78:5,2570:0.03,293.64:0.03,137.74:0.00,155.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:55.0,80.1:0,0:0,0:32,66:119,81:0,38:NM_001004477.1(OR10X1) c.198G>A (p.Trp66*),NM_001004477.1(OR10X1) c.198G>A (p.Trp66*):0.53,0.53:0.486314,0.486314 1 158549511 rs863363 A G 300 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.4818,G/0.5182;Gene=OR10X1/NM_001004477.1/1;CC=c.179T>C;ProtCh=p.I60T;VC=Missense;DM=OR10X1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:44:0:0:84:2601:299.92:132.98:166.94:1.00:1.00:1.00:60:73.1:0:0:61:80:29:NM_001004477.1(OR10X1) c.179T>C (p.Ile60Thr),NM_001004477.1(OR10X1) c.179T>C (p.Ile60Thr):0.55,0.55:0.503998,0.503998 1 158549690 . T . . NT END=158576228;NT GT ./. 1 158576100 rs860772 G C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7498,C/0.2502 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,G:11:11:0:0:3,8:96,261:8.23,0.00:8.23,0.00:0.00,0.00:0.60,0.00:0.60,0.00:0.00,0.00:60,60:36.0,1.5:0,0:0,0:73,69:78,80:3,13:NM_001004478.1(OR10Z1) c.1-u129G>C,-:0.28,-:NOT_FOUND,- 1 158577109 rs857685 A C 90 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.7578,C/0.2422,G/.;PC=1.000;Gene=OR10Z1/NM_001004478.1/1;CC=c.881A>C;ProtCh=p.N294T;VC=Missense;DM=OR10Z1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:59:27:0:0:30,29:941,937:0.00,89.73:0.00,33.04:0.00,56.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,45.4:0,0:0,0:97,71:53,78:18,28:-,NM_001004478.1(OR10Z1) c.881A>C (p.Asn294Thr):-,0.27:-,0.200062 1 158577171 . A . . NT END=158581053;NT GT ./. 1 158580759 rs12601 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.496,A/0.504;Gene=SPTA1/NM_003126.2/1;CC=c.*295C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:150:17.36:17.36:0.00:1.00:1.00:0.00:60:43.2:0:0:44:107:10:NM_003126.2(SPTA1) c.*295C>T,NM_003126.2(SPTA1) c.*295C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 1 158580921 rs68118007 GCA G 21 idl,rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=140;PC=0.335;Gene=SPTA1/NM_003126.2/1;CC=c.*131_*132delTG;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,GCA,I,G:22:25:7:8:1,9,5,7:32,284,218,264:2.12,0.00,13.62,21.29:2.15,0.00,12.23,21.50:-0.03,0.00,1.39,-0.21:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.74:60,60,60,60:42.0,2.0,44.4,4.7:0,0,2,1:0,0,0,0:0,92,21,49:150,59,125,100:0,41,10,19:-,NM_003126.2(SPTA1) c.*99TG[16]:-,NOT_FOUND:-,NOT_FOUND 1 158581180 . C . . NT END=158582606;NT GT ./. 1 158581510 rs57511663 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7726,C/0.2274;PC=0.964;Gene=SPTA1/NM_003126.2/1;CC=c.7135-331A>G;VC=Intron;DM=SPTA1/EFhand_Ca_insen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:0:0:0:2,2:69,66:6.65,0.00:0.00,0.00:6.65,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:44.0,0.0:0,0:0,0:106,114:41,36:35,32:NM_003126.2(SPTA1) c.7135-331A>G,-:0.24,-:NOT_FOUND,- 1 158582347 rs386368438 G GAA 18 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4966,GAA/0.2306,GAAA/0.2728;DB;DBA=NA;PAF=G/0.4966,GAA/0.2306,GAAA/0.2728;DB;DBA=NA;PAF=G/0.4966,GAA/0.2306;NP=14;NP=28;Gene=SPTA1/NM_003126.2/1;CC=c.7134+258_7134+259dupTT;VC=Intron;DM=SPTA1/EFhand_Ca_insen;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GAA:5:6:6:0:5:187:17.79:17.79:0.00:0.99:0.99:0.00:70:27.2:1:0:50:100:19:NM_003126.2(SPTA1) c.7134+259_7134+260insTT,NM_003126.2(SPTA1) c.7134+259_7134+260insTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 158582426 rs2518489 G A 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.723,A/0.277;Gene=SPTA1/NM_003126.2/1;CC=c.7134+181C>T;VC=Intron;DM=SPTA1/EFhand_Ca_insen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,G:16:16:0:0:11,5:309,130:31.84,0.00:31.84,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.6,8.8:0,0:0,0:60,37:86,113:39,13:NM_003126.2(SPTA1) c.7134+181C>T,-:0.31,-:NOT_FOUND,- 1 158582543 rs2251963 G A 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.723,A/0.277;Gene=SPTA1/NM_003126.2/1;CC=c.7134+64C>T;VC=Intron;DM=SPTA1/EFhand_Ca_insen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:32:0:0:18,15:596,498:58.31,0.00:52.60,0.00:5.71,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:86.2,25.9:0,0:0,0:53,48:96,101:29,14:NM_003126.2(SPTA1) c.7134+64C>T,-:0.31,-:NOT_FOUND,- 1 158582552 rs2251964 G A 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.723,A/0.277;PC=0.001;Gene=SPTA1/NM_003126.2/1;CC=c.7134+55C>T;VC=Intron;DM=SPTA1/EFhand_Ca_insen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:33:0:0:20,14:653,459:64.84,0.00:55.59,0.00:9.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.0,22.7:0,0:0,0:56,54:89,97:29,14:NM_003126.2(SPTA1) c.7134+55C>T,-:0.31,-:NOT_FOUND,- 1 158582646 rs2251969 T C 218 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.4952,C/0.5048;PC=0.023;Gene=SPTA1/NM_003126.2/1;CC=c.7095A>G;ProtCh=p.A2365=;VC=Silent;DM=SPTA1/EFhand_Ca_insen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:C:62:41:0:0:62:1891:218.45:103.05:115.39:1.00:1.00:1.00:60:45.4:0:0:67:78:41:NM_003126.2(SPTA1) c.7095A>G (p.(=)),NM_003126.2(SPTA1) c.7095A>G (p.(=)):0.55,0.55:0.509482,0.509482 1 158582752 . C . . NT END=158583510;NT GT ./. 1 158582838 rs2157691 G C 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.7478,C/0.2522;PC=0.002;Gene=SPTA1/NM_003126.2/1;CC=c.6990-87C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:4:0:0:10,8:316,268:30.97,0.00:3.19,0.00:27.78,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:79.9,4.0:0,0:0,0:96,113:55,38:23,17:NM_003126.2(SPTA1) c.6990-87C>G,-:0.28,-:NOT_FOUND,- 1 158583658 . C . . NT END=158584042;NT GT ./. 1 158584091 rs952094 A G 119 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.4938,G/0.5062;PC=1.000;Gene=SPTA1/NM_003126.2/1;CC=c.6794T>C;ProtCh=p.I2265T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C,G:34:22:0:0:1,33:20,1040:0.98,119.26:0.00,57.24:0.98,62.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:144.0,49.7:0,0:0,0:107,78:23,63:0,26:NM_003126.2(SPTA1) c.6794T>C (p.Ile2265Thr),NM_003126.2(SPTA1) c.6794T>C (p.Ile2265Thr):0.55,0.55:0.506814,0.506814 1 158584097 . C . . NT END=158585005;NT GT ./. 1 158584103 rs5778083 G GA 45 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.511,GAA/0.2392;DB;DBA=NA;PAF=G/0.511,GA/0.249,GAA/0.2392;DB;DBA=NA;PAF=G/0.511,GA/0.249,GAA/0.2392,GAAA/0.0007987,GAAAAAA/.;NP=1;NP=10;NP=136;NP=16;NP=17;PC=0.909;Gene=SPTA1/NM_003126.2/1;CC=c.6789-8dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,G,GA,D:25:21:21:1:2,8,14,1:57,221,684,33:4.03,0.00,45.47,2.16:1.59,0.00,26.96,-0.04:2.43,0.00,18.51,2.20:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:124.5,65.0,57.6,34.0:2,1,7,0:0,0,0,0:95,136,76,121:45,11,68,29:25,11,21,0:-,NM_003126.2(SPTA1) c.6789-8_6789-7insT:-,NOT_FOUND:-,NOT_FOUND 1 158585194 . C . . NT END=158587326;NT GT ./. 1 158585230 rs2518491 C T 70 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.7684,T/0.2316;Gene=SPTA1/NM_003126.2/1;CC=c.6601-37G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:17:0:0:21,23:611,725:0.00,70.24:0.00,21.70:0.00,48.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,51.4:0,0:0,0:97,104:49,44:22,17:-,NM_003126.2(SPTA1) c.6601-37G>A:-,0.26:-,0.210376 1 158585355 rs2852634 T C 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7686,C/0.2314;Gene=SPTA1/NM_003126.2/1;CC=c.6601-162A>G;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:C,T:15:0:0:0:4,11:129,297:11.04,0.00:0.00,0.00:11.04,0.00:0.76,0.00:0.00,0.00:0.76,0.00:60,60:55.8,21.9:0,0:0,0:81,96:69,55:42,47:NM_003126.2(SPTA1) c.6601-162A>G,-:0.26,-:NOT_FOUND,- 1 158587379 . C . . NT END=158587828;NT GT ./. 1 158587390 rs857716 C T 136 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=SPTA1/NM_003126.2/1;CC=c.6549-12G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:25:0:0:36:1191:136.26:63.82:72.44:1.00:1.00:1.00:60:35.5:0:0:80:59:25:NM_003126.2(SPTA1) c.6549-12G>A,NM_003126.2(SPTA1) c.6549-12G>A:0.54,0.54:0.48524,0.48524 1 158587784 rs857717 T G 95 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=3460;PC=0.001;Gene=SPTA1/NM_003126.2/1;CC=c.6548+45A>C;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:20:0:0:25:833:95.20:56.93:38.27:1.00:1.00:1.00:60:42.8:0:0:58:93:41:NM_003126.2(SPTA1) c.6548+45A>C,NM_003126.2(SPTA1) c.6548+45A>C:1,1:0.99932,0.99932 1 158587847 . C . . NT END=158589011;NT GT ./. 1 158587858 rs28525570 G A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7722,A/0.2278;PC=0.061;Gene=SPTA1/NM_003126.2/1;CC=c.6531-12C>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:22:0:0:9,24:302,778:26.10,0.00:13.56,0.00:12.54,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:53.8,29.9:0,0:0,0:64,89:66,46:21,27:NM_003126.2(SPTA1) c.6531-12C>T,-:0.25,-:0.249114,- 1 158588916 rs7553252 C G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.6787,G/0.3213,T/.;Gene=SPTA1/NM_003126.2/1;CC=c.6530+96G>C;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:26:0:0:15,11:510,343:0.00,31.83:0.00,31.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.0,48.6:0,0:0,0:44,31:105,120:37,22:-,NM_003126.2(SPTA1) c.6530+96G>C:-,0.32:-,NOT_FOUND 1 158589125 . C . . NT END=158589959;NT GT ./. 1 158589366 rs114187816 G A 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.984,A/0.01597;PC=0.008;Gene=SPTA1/NM_003126.2/1;CC=c.6418-242C>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:6:0:0:0:4,2:111,69:11.31,0.00:0.00,0.00:11.31,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:56.0,0.0:0,0:0,0:60,83:89,67:13,15:NM_003126.2(SPTA1) c.6418-242C>T,-:0.02,-:NOT_FOUND,- 1 158589436 rs10908686 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6893,G/.,T/0.3107;PC=0.001;Gene=SPTA1/NM_003126.2/1;CC=c.6418-312G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:0:0:0:1,3:34,95:0.00,9.95:0.00,0.00:0.00,9.95:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,63.7:0,0:0,0:138,123:13,26:0,12:-,NM_003126.2(SPTA1) c.6418-312G>A:-,0.32:-,NOT_FOUND 1 158590257 . C . . NT END=158592772;NT GT ./. 1 158592935 rs3753068 G A 160 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.6895,A/0.3105;PC=0.524;Gene=SPTA1/NM_003126.2/1;CC=c.5958C>T;ProtCh=p.P1986=;VC=Silent;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:62:0:0:50,59:1683,1848:159.53,0.00:55.94,0.00:103.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,4.3:0,0:0,0:77,65:72,73:33,32:NM_003126.2(SPTA1) c.5958C>T (p.(=)),-:0.32,-:0.325929,- 1 158592983 . C . . NT END=158595935;NT GT ./. 1 158595824 rs56954229 T C 44 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.754,C/0.246;PC=0.001;Gene=SPTA1/NM_003126.2/1;CC=c.5910+112A>G;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:22:0:0:14,8:438,204:44.25,0.00:44.25,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:67.2,1.2:0,0:0,0:41,80:109,70:32,60:NM_003126.2(SPTA1) c.5910+112A>G,-:0.26,-:NOT_FOUND,- 1 158595842 rs11265038 C A 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.754,A/0.246;Gene=SPTA1/NM_003126.2/1;CC=c.5910+94G>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,C:20:20:0:0:15,5:463,170:48.56,0.00:48.86,0.00:-0.30,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:64.9,2.0:0,0:0,0:54,59:97,92:28,27:NM_003126.2(SPTA1) c.5910+94G>T,-:0.26,-:NOT_FOUND,- 1 158596013 . C . . NT END=158596628;NT GT ./. 1 158596438 rs2482963 G T 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SPTA1/NM_003126.2/1;CC=c.5833+191C>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:G,T:14:14:0:0:4,10:142,272:0.00,28.26:0.00,28.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.8,51.6:0,0:0,0:60,45:90,106:26,38:-,NM_003126.2(SPTA1) c.5833+191C>A:-,0.27:-,NOT_FOUND 1 158596524 rs12088990 A G 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.7744,G/0.2256;Gene=SPTA1/NM_003126.2/1;CC=c.5833+105T>C;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:30:0:0:16,14:531,459:0.00,43.57:0.00,43.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.1,37.5:0,0:0,0:61,46:90,105:34,20:-,NM_003126.2(SPTA1) c.5833+105T>C:-,0.24:-,NOT_FOUND 1 158596798 . C . . NT END=158597414;NT GT ./. 1 158597507 rs3737515 G C 62 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.7722,A/.,C/0.2278;PC=1.000;Gene=SPTA1/NM_003126.2/1;CC=c.5572C>G;ProtCh=p.L1858V;VC=Missense;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:32:0:0:20,31:674,1045:62.11,0.00:28.61,0.00:33.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,4.0:0,0:0,0:114,76:32,63:25,33:NM_003126.2(SPTA1) c.5572C>G (p.Leu1858Val),-:0.25,-:0.249537,- 1 158597514 . C . . NT END=158604332;NT GT ./. 1 158597742 rs3737516 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6845,C/0.3155;Gene=SPTA1/NM_003126.2/1;CC=c.5566-229A>G;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:5:0:0:0:3,2:97,67:9.67,0.00:0.00,0.00:9.67,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:32.3,0.0:0,0:0,0:123,105:28,46:13,2:NM_003126.2(SPTA1) c.5566-229A>G,-:0.32,-:NOT_FOUND,- 1 158604000 rs857723 C T 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4056,T/0.5944;Gene=SPTA1/NM_003126.2/1;CC=c.5565+333G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:136:15.94:15.94:0.00:1.00:1.00:0.00:60:36.0:0:0:40:108:31:NM_003126.2(SPTA1) c.5565+333G>A,NM_003126.2(SPTA1) c.5565+333G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 158604143 rs11811522 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6791,A/0.3209;Gene=SPTA1/NM_003126.2/1;CC=c.5565+190C>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:13:13:0:0:7,6:239,154:23.42,0.00:23.42,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:50.9,20.5:0,0:0,0:40,52:111,86:20,27:NM_003126.2(SPTA1) c.5565+190C>T,-:0.32,-:NOT_FOUND,- 1 158604466 . C . . NT END=158605702;NT GT ./. 1 158605825 . C . . NT END=158606430;NT GT ./. 1 158606449 rs3738791 G T 126 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.6795,T/0.3205;PC=0.890;Gene=SPTA1/NM_003126.2/1;CC=c.5292C>A;ProtCh=p.A1764=;VC=Silent;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:86:70:0:0:44,42:1343,1319:0.00,126.08:0.00,86.88:0.00,39.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,41.0:0,0:0,0:64,42:83,105:30,25:-,NM_003126.2(SPTA1) c.5292C>A (p.(=)):-,0.32:-,0.337849 1 158606552 . C . . NT END=158607822;NT GT ./. 1 158607609 rs11799335 T C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7442,C/0.2558;Gene=SPTA1/NM_003126.2/1;CC=c.5189+214A>G;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,T:5:5:0:0:3,2:73,71:7.25,0.00:7.25,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:52.3,0.0:0,0:0,0:86,96:64,53:20,34:NM_003126.2(SPTA1) c.5189+214A>G,-:0.26,-:NOT_FOUND,- 1 158607788 rs2518492 T G 210 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=3458;Gene=SPTA1/NM_003126.2/1;CC=c.5189+35A>C;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:G:59:56:0:0:59:1824:210.41:182.00:28.41:1.00:1.00:1.00:60:32.0:0:0:45:105:29:NM_003126.2(SPTA1) c.5189+35A>C,NM_003126.2(SPTA1) c.5189+35A>C:1,1:0.999165,0.999165 1 158607935 rs857725 T G 164 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.7544,G/0.2456;Gene=SPTA1/NM_003126.2/1;CC=c.5077A>C;ProtCh=p.K1693Q;VC=Missense;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:94:57:0:0:52,42:1669,1393:163.63,0.00:81.51,0.00:82.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,3.5:0,0:0,0:90,58:59,91:34,38:NM_003126.2(SPTA1) c.5077A>C (p.Lys1693Gln),-:0.28,-:0.21836,- 1 158608032 . C . . NT END=158609371;NT GT ./. 1 158608178 rs10908687 G A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7548,A/0.2452;PC=0.001;Gene=SPTA1/NM_003126.2/1;CC=c.4981-147C>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:0:0:0:8,11:228,369:20.99,0.00:0.00,0.00:20.99,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:40.4,7.1:0,0:0,0:128,107:22,44:18,35:NM_003126.2(SPTA1) c.4981-147C>T,-:0.26,-:NOT_FOUND,- 1 158609300 rs17635857 C G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7546,G/0.2454;Gene=SPTA1/NM_003126.2/1;CC=c.4980+72G>C;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:26:0:0:18,9:556,270:0.00,23.83:0.00,24.01:0.00,-0.18:0.00,0.99:0.00,1.00:0.00,0.56:60,60:8.8,41.8:0,0:0,0:38,21:112,130:19,12:-,NM_003126.2(SPTA1) c.4980+72G>C:-,0.26:-,NOT_FOUND 1 158609477 . C . . NT END=158609659;NT GT ./. 1 158609798 . C . . NT END=158612200;NT GT ./. 1 158612236 rs863931 A G 443 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=A/0.406,G/0.594,T/.;PC=0.752;Gene=SPTA1/NM_003126.2/1;CC=c.4702T>C;ProtCh=p.C1568R;VC=Missense;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:126:99:0:0:126:3832:442.59:249.13:193.46:1.00:1.00:1.00:60:39.8:0:0:58:92:31:NM_003126.2(SPTA1) c.4702T>C (p.Cys1568Arg),NM_003126.2(SPTA1) c.4702T>C (p.Cys1568Arg):0.62,0.62:0.599561,0.599561 1 158612333 . C . . NT END=158612603;NT GT ./. 1 158612548 rs857721 T A 121 nt VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.7628,A/0.2372;Gene=SPTA1/NM_003126.2/1;CC=c.4605+56A>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:85:68:0:0:40,1,44:1271,10,1374:120.98,-0.11,0.00:85.59,-0.05,0.00:35.38,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:33.6,146.0,10.4:0,0,0:0,0,0:58,84,51:92,60,90:30,0,38:NM_003126.2(SPTA1) c.4605+56A>T,-:0.27,-:NOT_FOUND,- 1 158612767 . C . . NT END=158613111;NT GT ./. 1 158613216 . C . . NT END=158614042;NT GT ./. 1 158613926 . CA C 16 idl,rn VT=DEL;SST=Single;DP=32;NP=18;Gene=SPTA1/NM_003126.2/1;CC=c.4338+116delT;VC=Intron;DM=SPTA1/Spectrin;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,CA,I,C:30:31:6:6:2,18,4,6:19,570,196,189:0.30,0.00,10.66,15.78:-0.26,0.00,10.68,15.83:0.55,0.00,-0.03,-0.04:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.45:60,60,60,60:71.5,38.8,12.0,25.7:0,0,2,0:0,0,0,0:53,31,51,65:97,118,99,85:53,20,20,54:-,NM_003126.2(SPTA1) c.4338+116delT:-,NOT_FOUND:-,NOT_FOUND 1 158614187 . C . . NT END=158614977;NT GT ./. 1 158614198 rs6702040 C T 141 nt VT=SNV;PN=T;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.6803,T/0.3197;Gene=SPTA1/NM_003126.2/1;CC=c.4195-12G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:97:40:0:0:50,47:1592,1473:0.00,140.54:0.00,37.93:0.00,102.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,35.8:0,0:0,0:95,108:51,43:28,25:-,NM_003126.2(SPTA1) c.4195-12G>A:-,0.32:-,0.336485 1 158614667 rs10443907 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7724,T/0.2276;Gene=SPTA1/NM_003126.2/1;CC=c.4194+311G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,T:6:4:0:0:3,3:81,101:0.00,9.73:0.00,6.45:0.00,3.28:0.00,0.73:0.00,0.51:0.00,0.79:60,60:7.3,37.3:0,0:0,0:61,56:88,95:23,55:-,NM_003126.2(SPTA1) c.4194+311G>A:-,0.25:-,NOT_FOUND 1 158615176 . C . . NT END=158615284;NT GT ./. 1 158615385 . C . . NT END=158617328;NT GT ./. 1 158617511 . C . . NT END=158618298;NT GT ./. 1 158618223 rs857677 C T 203 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.4559,T/0.5441;Gene=SPTA1/NM_003126.2/1;CC=c.3714+76G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:G,T:58:54:0:0:1,57:12,1760:0.24,202.64:0.24,175.36:0.00,27.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,36.7:0,0:0,0:99,46:51,105:0,29:NM_003126.2(SPTA1) c.3714+76G>A,NM_003126.2(SPTA1) c.3714+76G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 158618444 . C . . NT END=158619645;NT GT ./. 1 158618455 rs2246434 G A 124 nt VT=SNV;PN=A;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.7718,A/0.2282;Gene=SPTA1/NM_003126.2/1;CC=c.3570-12C>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:74:20:0:0:42,1,31:1261,21,1023:124.41,0.61,0.00:24.87,-0.03,0.00:99.53,0.64,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.0,105.0,39.7:0,0,0:0,0,0:109,141,104:39,5,46:31,0,33:NM_003126.2(SPTA1) c.3570-12C>T,-:0.26,-:0.203333,- 1 158618480 rs11265044 A T 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.7534,G/.,T/0.2466;Gene=SPTA1/NM_003126.2/1;CC=c.3570-37T>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:56:13:0:0:33,23:1011,730:0.00,67.52:0.00,7.26:0.00,60.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.6,54.6:0,0:0,0:102,99:43,51:33,36:-,NM_003126.2(SPTA1) c.3570-37T>A:-,0.26:-,0.259357 1 158619728 rs2482965 A C 199 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.005391,C/0.9946;NP=3451;PC=0.691;Gene=SPTA1/NM_003126.2/1;CC=c.3487T>G;ProtCh=p.S1163A;VC=Missense;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C:51:40:0:0:51:1743:198.56:105.85:92.71:1.00:1.00:1.00:60:42.7:0:0:81:68:25:NM_003126.2(SPTA1) c.3487T>G (p.Ser1163Ala),NM_003126.2(SPTA1) c.3487T>G (p.Ser1163Ala):1,1:0.993966,0.993966 1 158619738 . C . . NT END=158621156;NT GT ./. 1 158619822 rs857689 A C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.5821,C/0.4179;Gene=SPTA1/NM_003126.2/1;CC=c.3478-85T>G;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:27:6:0:0:16,11:447,353:0.00,32.65:0.00,6.38:0.00,26.27:0.00,1.00:0.00,0.94:0.00,1.00:60,60:30.5,57.5:0,0:0,0:98,130:52,19:39,17:-,NM_003126.2(SPTA1) c.3478-85T>G:-,0.42:-,NOT_FOUND 1 158621259 . C . . NT END=158622256;NT GT ./. 1 158622444 . C . . NT END=158623063;NT GT ./. 1 158623216 . C . . NT END=158624400;NT GT ./. 1 158624539 . C . . NT END=158626353;NT GT ./. 1 158626378 rs857691 C T 64 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.5765,T/0.4235;Gene=SPTA1/NM_003126.2/1;CC=c.2874G>A;ProtCh=p.L958=;VC=Silent;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:36:0:0:26,22:908,675:0.00,63.57:0.00,39.93:0.00,23.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,35.3:0,0:0,0:55,37:93,103:17,31:-,NM_003126.2(SPTA1) c.2874G>A (p.(=)):-,0.42:-,0.386956 1 158626447 . C . . NT END=158627266;NT GT ./. 1 158627485 . C . . NT END=158631076;NT GT ./. 1 158631171 rs2518493 A C 90 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.7564,C/0.2436,G/.;PC=0.964;Gene=SPTA1/NM_003126.2/1;CC=c.2493T>G;ProtCh=p.L831=;VC=Silent;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:60:35:0:0:32,28:949,946:0.00,90.00:0.00,44.82:0.00,45.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,44.9:0,0:0,0:86,88:61,62:38,35:-,NM_003126.2(SPTA1) c.2493T>G (p.(=)):-,0.27:-,0.225358 1 158631200 . C . . NT END=158632491;NT GT ./. 1 158632736 . C . . NT END=158636105;NT GT ./. 1 158635852 rs857680 A G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3566,G/0.6434;Gene=SPTA1/NM_003126.2/1;CC=c.2220+254T>C;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:60:34.2:0:0:28:122:23:NM_003126.2(SPTA1) c.2220+254T>C,NM_003126.2(SPTA1) c.2220+254T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 1 158636288 . C . . NT END=158637647;NT GT ./. 1 158637853 . C . . NT END=158639197;NT GT ./. 1 158637865 rs564860316 GAAA G 124 idl,nt VT=DEL;SST=Single;DP=67;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.040;Gene=SPTA1/NM_003126.2/1;CC=c.1834-16_1834-14delTTT;VC=Intron;DM=SPTA1/Spectrin;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAAA,G:53:23:0:57:14,39:469,1628:0.00,123.63:0.00,25.27:0.00,98.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,26.4:0,14:0,0:138,93:7,55:8,22:-,NM_003126.2(SPTA1) c.1834-16_1834-14delTTT:-,NOT_FOUND:-,NOT_FOUND 1 158639354 . C . . NT END=158639498;NT GT ./. 1 158639577 . C . . NT END=158641132;NT GT ./. 1 158639742 rs71632628 C T 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9924,T/0.007588;NP=22;Gene=SPTA1/NM_003126.2/1;CC=c.1600-166G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:12:0:0:0:5,7:172,207:0.00,20.49:0.00,0.00:0.00,20.49:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,57.0:0,0:0,0:130,104:20,46:15,17:-,NM_003126.2(SPTA1) c.1600-166G>A:-,0.01:-,NOT_FOUND 1 158641244 . C . . NT END=158641848;NT GT ./. 1 158641987 . C . . NT END=158644118;NT GT ./. 1 158644221 . C . . NT END=158644329;NT GT ./. 1 158644466 . C . . NT END=158645930;NT GT ./. 1 158646086 . C . . NT END=158647479;NT GT ./. 1 158646300 rs90078 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.07428,T/0.9257;Gene=SPTA1/NM_003126.2/1;CC=c.958-215G>A;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:137:15.61:0.00:15.61:1.00:0.00:1.00:60:39.0:0:0:117:34:12:NM_003126.2(SPTA1) c.958-215G>A,NM_003126.2(SPTA1) c.958-215G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 158647312 rs325997 A G 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.04253,G/0.9575;Gene=SPTA1/NM_003126.2/1;CC=c.957+168T>C;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:G:19:19:0:0:19:505:59.26:59.26:0.00:1.00:1.00:0.00:60:40.7:0:0:23:128:15:NM_003126.2(SPTA1) c.957+168T>C,NM_003126.2(SPTA1) c.957+168T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 158647495 rs325996 A T 311 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.04313,T/0.9569;PC=0.399;Gene=SPTA1/NM_003126.2/1;CC=c.942T>A;ProtCh=p.A314=;VC=Silent;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:80:62:0:0:80:2733:311.43:187.61:123.82:1.00:1.00:1.00:60:71.6:0:0:66:77:30:NM_003126.2(SPTA1) c.942T>A (p.(=)),NM_003126.2(SPTA1) c.942T>A (p.(=)):0.96,0.96:0.958048,0.958048 1 158647522 rs703121 A G 323 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.5461,G/0.4539;PC=1.000;Gene=SPTA1/NM_003126.2/1;CC=c.915T>C;ProtCh=p.S305=;VC=Silent;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:61:0:0:85:2827:323.13:171.54:151.59:1.00:1.00:1.00:60:76.0:0:0:70:80:33:NM_003126.2(SPTA1) c.915T>C (p.(=)),NM_003126.2(SPTA1) c.915T>C (p.(=)):0.51,0.51:0.477734,0.477734 1 158647625 . C . . NT END=158648190;NT GT ./. 1 158647631 rs325995 T A 257 nt VT=SNV;PN=G;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.04313,A/0.9569;PC=0.961;Gene=SPTA1/NM_003126.2/1;CC=c.813-7A>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:74:36:0:0:73,1:2243,10:257.23,0.00:92.22,0.00:165.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.9,84.0:0,0:0,0:81,109:68,39:36,0:NM_003126.2(SPTA1) c.813-7A>T,NM_003126.2(SPTA1) c.813-7A>T:0.96,0.96:0.95811,0.95811 1 158647669 rs703122 T C 224 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.5461,C/0.4539;PC=0.004;Gene=SPTA1/NM_003126.2/1;CC=c.813-45A>G;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:A,C,T:62:26:0:0:1,60,1:8,1974,23:0.09,223.59,0.00:0.00,64.49,0.00:0.09,159.10,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:94.0,69.9,32.0:0,0,0:0,0,0:83,91,55:67,49,96:0,34,0:NM_003126.2(SPTA1) c.813-45A>G,NM_003126.2(SPTA1) c.813-45A>G:0.51,0.51:0.476469,0.476469 1 158648008 rs325994 C A 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.08087,A/0.9191;Gene=SPTA1/NM_003126.2/1;CC=c.812+183G>T;VC=Intron;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:13:0:0:14:426:49.23:45.55:3.68:1.00:1.00:1.00:60:43.6:0:0:58:93:22:NM_003126.2(SPTA1) c.812+183G>T,NM_003126.2(SPTA1) c.812+183G>T:0.92,0.92:NOT_FOUND,NOT_FOUND 1 158648325 . C . . NT END=158650372;NT GT ./. 1 158650520 . C . . NT END=158651316;NT GT ./. 1 158651458 . C . . NT END=158653160;NT GT ./. 1 158653287 . C . . NT END=158654897;NT GT ./. 1 158653578 rs35379131 AT A 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AT/0.7374,A/0.2626;NP=75;PC=0.006;Gene=SPTA1/NM_003126.2/1;CC=c.265-293delA;VC=Intron;DM=SPTA1/Spectrin;DM=SPTA1/Spectrin;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:AT,A:5:0:0:3:2,3:61,98:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,0.0:0,0:0,0:145,114:5,35:1,21:-,NM_003126.2(SPTA1) c.265-293delA:-,NOT_FOUND:-,NOT_FOUND 1 158654786 rs385096 C T 119 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.03015,G/.,T/0.9698;Gene=SPTA1/NM_003126.2/1;CC=c.264+112G>A;VC=Intron;DM=SPTA1/Spectrin;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:30:0:0:32:1042:119.46:110.27:9.19:1.00:1.00:1.00:60:67.2:0:0:39:111:26:NM_003126.2(SPTA1) c.264+112G>A,NM_003126.2(SPTA1) c.264+112G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 158654852 rs857937 A G 238 nt VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.5409,G/0.4591;PC=0.001;Gene=SPTA1/NM_003126.2/1;CC=c.264+46T>C;VC=Intron;DM=SPTA1/Spectrin;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:G:62:54:0:0:62:2083:237.82:170.88:66.95:1.00:1.00:1.00:60:55.6:0:0:49:98:25:NM_003126.2(SPTA1) c.264+46T>C,NM_003126.2(SPTA1) c.264+46T>C:0.51,0.51:0.487376,0.487376 1 158655036 rs435080 G A 372 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.03015,A/0.9698;PC=0.545;Gene=SPTA1/NM_003126.2/1;CC=c.126C>T;ProtCh=p.V42=;VC=Silent;DM=SPTA1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:101:66:0:0:101:3237:371.71:196.87:174.84:1.00:1.00:1.00:60:40.5:0:0:87:53:32:NM_003126.2(SPTA1) c.126C>T (p.(=)),NM_003126.2(SPTA1) c.126C>T (p.(=)):0.98,0.98:0.973189,0.973189 1 158655138 . C . . NT END=158656283;NT GT ./. 1 158655162 rs2564859 C A 297 nt VT=SNV;PN=A;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.03015,A/0.9698,G/.;Gene=SPTA1/NM_003126.2/1;CC=c.25-25G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:81:31:0:0:81:2589:297.39:80.70:216.69:1.00:1.00:1.00:60:44.2:0:0:88:60:30:NM_003126.2(SPTA1) c.25-25G>T,NM_003126.2(SPTA1) c.25-25G>T:0.98,0.98:0.973605,0.973605 1 158655315 rs366221 T A 70 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.03015,A/0.9698;Gene=SPTA1/NM_003126.2/1;CC=c.25-178A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:0:0:0:20:608:70.33:0.00:70.33:1.00:0.00:1.00:60:37.6:0:0:102:47:37:NM_003126.2(SPTA1) c.25-178A>T,NM_003126.2(SPTA1) c.25-178A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 158656008 rs368029 A C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.03015,C/0.9698;Gene=SPTA1/NM_003126.2/1;CC=c.24+276T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:59.6:0:0:96:55:15:NM_003126.2(SPTA1) c.24+276T>G,NM_003126.2(SPTA1) c.24+276T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 158656146 rs71579626 TTAAAAG T 24 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TTAAAAG/0.7458,T/0.2542;DB;DBA=NA;PAF=TTAAAAG/0.7458,T/0.2542;DB;DBA=NA;PAF=TTAAAAG/0.7458,T/0.2542;NP=685;Gene=SPTA1/NM_003126.2/1;CC=c.24+132_24+137delCTTTTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:7:7:208:24.13:24.13:0.00:1.00:1.00:0.00:60:15.7:0:0:57:93:36:NM_003126.2(SPTA1) c.24+132_24+137delCTTTTA,NM_003126.2(SPTA1) c.24+132_24+137delCTTTTA:0.3,0.3:NOT_FOUND,NOT_FOUND 1 158656281 rs2564858 T C 163 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.03015,C/0.9698;PC=1.000;Gene=SPTA1/NM_003126.2/1;CC=c.24+3A>G;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A,C,T:45:36:0:0:1,43,1:9,1448,8:0.15,163.43,0.00:0.15,85.81,0.00:0.00,77.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:83.0,42.1,140.0:0,0,0:0,0,0:136,46,82:15,87,62:0,21,0:NM_003126.2(SPTA1) c.24+3A>G,NM_003126.2(SPTA1) c.24+3A>G:0.98,0.98:0.973127,0.973127 1 158656308 . T . . NT END=158669467;NT GT ./. 1 158656347 rs60465109 C CAGAG 67 idl,nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1001;Gene=SPTA1/NM_003126.2/1;CC=c.-44_-41dupCTCT;VC=5UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CAGAG:35:23:24:0:13,1,21:424,13,773:0.00,0.24,67.37:0.00,0.33,25.16:0.00,-0.09,42.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:34.0,140.0,41.3:0,0,3:0,0,0:128,148,93:20,-4,57:11,0,16:-,NM_003126.2(SPTA1) c.-58CT[11]:-,NOT_FOUND:-,NOT_FOUND 1 158656432 rs59027997 G GA 26 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5208,GA/0.4058;DB;DBA=NA;PAF=G/0.5208,GA/0.4058;DB;DBA=NA;PAF=G/0.5208,GA/0.4058;DB;DBA=NA;PAF=G/0.5208,GA/0.4058,GAA/.,GGA/0.07348;NP=1;NP=11;NP=565;Gene=SPTA1/NM_003126.2/1;CC=c.-126dupT;VC=5UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:G,GA:9:0:8:0:1,8:31,238:0.00,26.25:0.00,0.00:0.00,26.25:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.0,23.1:0,0:0,0:148,72:2,79:0,22:-,NM_003126.2(SPTA1) c.-126dupT:-,NOT_FOUND:-,NOT_FOUND 1 158669342 rs80156016 T TGTTTG 13 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=273;PC=0.034;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:G,T,TGTTTG:15:15:5:0:1,9,5:26,270,146:1.64,0.00,13.01:1.65,0.00,13.10:-0.02,0.00,-0.09:0.00,0.00,0.89:0.00,0.00,0.89:0.00,0.00,0.56:60,60,60:56.0,4.7,5.4:0,0,0:0,0,0:2,95,44:149,55,106:0,55,17:-,chr1 g.158669342_158669343insGTTTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 158669350 rs540772754 T TTGGTC 20 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.994,TTGGTC/0.00599;NP=1;NP=5;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TTGGTC:16:16:7:0:1,8,7:34,218,210:2.45,0.00,19.85:2.46,0.00,18.31:-0.01,0.00,1.53:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.74:60,60,60:34.0,11.9,1.0:0,0,0:0,0,0:13,40,46:132,107,105:0,32,34:-,chr1 g.158669350_158669351insTGGTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 158670443 . C . . NT END=158686957;NT GT ./. 1 158687163 rs28568406 G A 98 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.611,A/0.389;Gene=OR6K3/NM_001005327.2/1;CC=c.743C>T;ProtCh=p.P248L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:47:0:0:32,41:1040,1192:97.62,0.00:62.31,0.00:35.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.2,7.9:0,0:0,0:59,72:89,65:29,35:NM_001005327.2(OR6K3) c.743C>T (p.Pro248Leu),-:0.42,-:0.411502,- 1 158687224 rs857703 G A 99 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.7196,A/0.2804;Gene=OR6K3/NM_001005327.2/1;CC=c.682C>T;ProtCh=p.P228S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:72:43:0:0:34,37,1:1045,1164,10:99.34,0.00,-0.09:52.44,0.00,0.03:46.90,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:64.1,7.5,29.0:0,0,0:0,0,0:81,64,114:69,84,36:37,34,0:NM_001005327.2(OR6K3) c.682C>T (p.Pro228Ser),-:0.34,-:0.294941,- 1 158687896 rs857705 C T 80 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.775,T/0.225;Gene=OR6K3/NM_001005327.2/1;CC=c.10G>A;ProtCh=p.G4R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:29:0:0:26,24:747,831:0.00,79.59:0.00,26.05:0.00,53.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,41.2:0,0:0,0:88,114:52,33:26,21:-,NM_001005327.2(OR6K3) c.10G>A (p.Gly4Arg):-,0.21:-,0.23097 1 158687906 . A . . NT END=158724605;NT GT ./. 1 158724469 rs397794887 G GA 18 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=120;PC=0.002;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:G,GA:11:11:6:0:5,6:170,188:0.00,18.37:0.00,18.37:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:18.2,25.8:0,0:0,0:21,20:129,130:16,16:-,NM_001005184.1(OR6K6) c.1-u137_1-u136insA:-,NOT_FOUND:-,NOT_FOUND 1 158724537 rs34126693 T C 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.7903,C/0.2097 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:26:0:0:14,13:435,447:42.04,0.00:35.33,0.00:6.71,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:34.9,11.2:0,0:0,0:32,25:119,126:17,11:NM_001005184.1(OR6K6) c.1-u69T>C,-:0.22,-:NOT_FOUND,- 1 158725638 . A . . NT END=158735533;NT GT ./. 1 158725913 rs7529510 C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4908,T/0.5092 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:51.2:0:0:93:57:22:chr1 g.158725912C>T (intergenic),chr1 g.158725912C>T (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 158735595 rs857824 C T 317 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.3321,A/.,T/0.6679;PC=0.144;Gene=OR6N1/NM_001005185.1/1;CC=c.878G>A;ProtCh=p.R293H;VC=Missense;DM=OR6N1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:87:65:0:0:87:2760:317.39:182.41:134.98:1.00:1.00:1.00:60:46.9:0:0:60:82:34:NM_001005185.1(OR6N1) c.878G>A (p.Arg293His),NM_001005185.1(OR6N1) c.878G>A (p.Arg293His):0.71,0.71:0.737967,0.737967 1 158735691 rs857825 T C 280 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.3321,C/0.6679;PC=0.001;Gene=OR6N1/NM_001005185.1/1;CC=c.782A>G;ProtCh=p.Q261R;VC=Missense;DM=OR6N1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:80:50:0:0:80:2416:279.53:144.49:135.04:1.00:1.00:1.00:60:69.3:0:0:78:70:37:NM_001005185.1(OR6N1) c.782A>G (p.Gln261Arg),NM_001005185.1(OR6N1) c.782A>G (p.Gln261Arg):0.71,0.71:0.737967,0.737967 1 158735740 rs857826 A G 300 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.3321,G/0.6679;PC=1.000;Gene=OR6N1/NM_001005185.1/1;CC=c.733T>C;ProtCh=p.F245L;VC=Missense;DM=OR6N1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:46:0:0:80:2623:300.38:142.11:158.27:1.00:1.00:1.00:60:62.0:0:0:72:77:36:NM_001005185.1(OR6N1) c.733T>C (p.Phe245Leu),NM_001005185.1(OR6N1) c.733T>C (p.Phe245Leu):0.71,0.71:0.737967,0.737967 1 158735892 rs857827 A G 402 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.3321,G/0.6679;Gene=OR6N1/NM_001005185.1/1;CC=c.581T>C;ProtCh=p.I194T;VC=Missense;DM=OR6N1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:108:81:0:0:108:3505:401.79:255.61:146.18:1.00:1.00:1.00:60:41.7:0:0:65:84:34:NM_001005185.1(OR6N1) c.581T>C (p.Ile194Thr),NM_001005185.1(OR6N1) c.581T>C (p.Ile194Thr):0.71,0.71:0.737967,0.737967 1 158736215 rs6666753 G A 420 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.1875,A/0.8125;Gene=OR6N1/NM_001005185.1/1;CC=c.258C>T;ProtCh=p.L86=;VC=Silent;DM=OR6N1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:117:82:0:0:117:3643:419.89:246.03:173.85:1.00:1.00:1.00:60:40.2:0:0:83:66:40:NM_001005185.1(OR6N1) c.258C>T (p.(=)),NM_001005185.1(OR6N1) c.258C>T (p.(=)):0.87,0.87:0.86437,0.86437 1 158736445 rs1864346 C T 94 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.7538,T/0.2462;Gene=OR6N1/NM_001005185.1/1;CC=c.28G>A;ProtCh=p.A10T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:86:37:0:0:52,34:1763,1026:0.00,93.69:0.00,21.21:0.00,72.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,56.6:0,0:0,0:87,80:62,65:30,29:-,NM_001005185.1(OR6N1) c.28G>A (p.Ala10Thr):-,0.28:-,0.233431 1 158736473 . T . . NT END=158746471;NT GT ./. 1 158736517 rs1864347 A T 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.7538,T/0.2462 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:51:14:0:0:26,1,1,23:838,12,9,744:0.00,0.04,-0.08,70.66:0.00,0.22,0.10,3.76:0.00,-0.18,-0.18,66.90:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:4.5,72.0,152.0,66.5:0,0,0,0:0,0,0,0:107,138,94,111:40,12,57,40:25,0,0,26:-,NM_001005185.1(OR6N1) c.1-u45T>A:-,0.28:-,0.227933 1 158747426 . G . . NT END=158811943;NT GT ./. 1 158812209 . G . . NT END=158813068;NT GT ./. 1 158813206 . G . . NT END=158813744;NT GT ./. 1 158813819 rs857870 A G 133 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.4718,G/0.5282;Gene=MNDA/NM_002432.1/1;CC=c.477A>G;ProtCh=p.P159=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:74:0:0:57,47:1933,1421:0.00,133.30:0.00,74.64:0.00,58.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,34.7:0,0:0,0:61,73:90,76:27,38:-,NM_002432.1(MNDA) c.477A>G (p.(=)):-,0.54:-,0.50469 1 158813913 . G . . NT END=158815376;NT GT ./. 1 158815794 . G . . NT END=158817517;NT GT ./. 1 158817474 rs2261107 A G 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.8059,G/0.1941;Gene=MNDA/NM_002432.1/1;CC=c.988-44A>G;VC=Intron;DM=MNDA/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:25:0:0:16,13:494,434:0.00,40.95:0.00,32.82:0.00,8.13:0.00,1.00:0.00,1.00:0.00,0.98:60,60:8.1,46.0:0,0:0,0:39,35:108,116:25,7:-,NM_002432.1(MNDA) c.988-44A>G:-,0.24:-,0.252268 1 158817707 . G . . NT END=158818979;NT GT ./. 1 158817975 rs2820121 T C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4553,C/0.5447;Gene=MNDA/NM_002432.1/1;CC=c.1176+269T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,T:5:0:0:0:4,1:118,30:12.62,0.00:0.00,0.00:12.62,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:64.0,0.0:0,0:0,0:115,148:33,3:13,0:NM_002432.1(MNDA) c.1176+269T>C,-:0.56,-:NOT_FOUND,- 1 158819028 . A . . NT END=158906700;NT GT ./. 1 158894077 rs856104 G C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8027,C/0.1973;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:4:2:0:0:2,2:72,71:6.95,0.00:-0.45,0.00:7.40,0.00:0.51,0.00:0.79,0.00:0.89,0.00:60,60:70.5,76.0:0,0:0,0:51,56:97,78:21,39:NM_152501.4(PYHIN1) c.-250-u7260G>C,-:0.17,-:NOT_FOUND,- 1 158906966 . G . . NT END=158908186;NT GT ./. 1 158908333 . G . . NT END=158908869;NT GT ./. 1 158908886 rs147827524 C T 92 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.9948,T/0.005192;NP=97;Gene=PYHIN1/NM_152501.4/1;CC=c.428C>T;ProtCh=p.S143F;VC=Missense;Gene=PYHIN1/NM_198928.4/0;CC=c.401C>T;ProtCh=p.S134F;VC=Missense;Gene=PYHIN1/NM_198929.4/0;CC=c.428C>T;ProtCh=p.S143F;VC=Missense;Gene=PYHIN1/NM_198930.3/0;CC=c.401C>T;ProtCh=p.S134F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:69:0:0:43,34:1371,986:0.00,91.76:0.00,75.72:0.00,16.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,34.6:0,0:0,0:54,64:93,82:28,32:-,NM_152501.4(PYHIN1) c.428C>T (p.Ser143Phe):-,0.0018:-,0.011994 1 158909038 . G . . NT END=158909192;NT GT ./. 1 158909164 rs2325704 C A 289 nt VT=SNV;PN=T;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.2023,A/0.7977,G/.;Gene=PYHIN1/NM_152501.4/1;CC=c.579+127C>A;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.552+127C>A;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.579+127C>A;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.552+127C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:49:0:0:79:2513:288.95:129.82:159.13:1.00:1.00:1.00:60:38.2:0:0:70:81:31:NM_152501.4(PYHIN1) c.579+127C>A,NM_152501.4(PYHIN1) c.579+127C>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 158909333 . c . . NT END=158911766;NT GT ./. 1 158912190 . G . . NT END=158913579;NT GT ./. 1 158913525 rs856082 A G 121 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.08307,G/0.9169;Gene=PYHIN1/NM_152501.4/1;CC=c.1003-55A>G;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.976-55A>G;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.1003-55A>G;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.976-55A>G;VC=Intron;DM=PYHIN1/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:29:0:0:31:1059:120.65:108.82:11.83:1.00:1.00:1.00:60:56.4:0:0:46:105:28:NM_152501.4(PYHIN1) c.1003-55A>G,NM_152501.4(PYHIN1) c.1003-55A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 158913532 rs4656498 C T 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.634,T/0.366;Gene=PYHIN1/NM_152501.4/1;CC=c.1003-48C>T;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.976-48C>T;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.1003-48C>T;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.976-48C>T;VC=Intron;DM=PYHIN1/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:32:0:0:13,21:440,642:0.00,64.34:0.00,55.39:0.00,8.95:0.00,1.00:0.00,1.00:0.00,0.99:60,60:41.1,61.0:0,0:0,0:53,47:98,104:12,32:-,NM_152501.4(PYHIN1) c.1003-48C>T:-,0.39:-,0.360243 1 158913769 . G . . NT END=158914664;NT GT ./. 1 158914833 . G . . NT END=158943436;NT GT ./. 1 158915069 rs856083 C G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.04493,G/0.9551;Gene=PYHIN1/NM_152501.4/1;CC=c.1359+237C>G;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.1332+237C>G;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.1359+237C>G;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.1332+237C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:170:19.81:0.00:19.81:1.00:0.00:1.00:60:46.3:0:0:82:68:18:NM_152501.4(PYHIN1) c.1359+237C>G,NM_152501.4(PYHIN1) c.1359+237C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 158943295 rs71084295 T TCACA 17 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4712,TCA/0.5288;DB;DBA=NA;PAF=T/0.4712,TCA/0.5288,TCACA/.;NP=1;NP=14;NP=660;PC=0.001;Gene=PYHIN1/NM_152501.4/1;CC=c.1360-110_1360-109insCACA;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.1333-110_1333-109insCACA;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.1360-3164_1360-3163insCACA;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.1333-3164_1333-3163insCACA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:T,TCACA,D:21:20:8:1:13,7,1:359,230,9:0.00,17.31,0.02:0.00,13.72,0.04:0.00,3.59,-0.02:0.00,0.97,0.00:0.00,1.00,0.00:0.00,0.79,0.00:60,60,9:25.7,84.4,0.0:0,1,0:0,0,0:99,53,5:48,93,146:41,11,0:-,NM_152501.4(PYHIN1) c.1360-142_1360-141insCACA:-,NOT_FOUND:-,NOT_FOUND 1 158943328 rs12145823 T C 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.6452,C/0.3548;Gene=PYHIN1/NM_152501.4/1;CC=c.1360-109T>C;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.1333-109T>C;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.1360-3163T>C;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.1333-3163T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:27:0:0:17,15:557,456:54.23,0.00:36.33,0.00:17.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.9,19.1:0,0:0,0:32,37:118,114:25,8:NM_152501.4(PYHIN1) c.1360-109T>C,-:0.15,-:NOT_FOUND,- 1 158943382 rs12071136 C A 106 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.7177,A/0.2823;Gene=PYHIN1/NM_152501.4/1;CC=c.1360-55C>A;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.1333-55C>A;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.1360-3109C>A;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.1333-3109C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:56:0:0:34,27:1078,878:105.84,0.00:84.10,0.00:21.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.2,5.1:0,0:0,0:43,41:107,110:28,29:NM_152501.4(PYHIN1) c.1360-55C>A,-:0.26,-:NOT_FOUND,- 1 158943562 . G . . NT END=158946490;NT GT ./. 1 158943799 rs1633296 T C 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.09245,C/0.9075;PC=0.001;Gene=PYHIN1/NM_152501.4/1;CC=c.*5+238T>C;VC=Intron;Gene=PYHIN1/NM_198928.4/0;CC=c.*5+238T>C;VC=Intron;Gene=PYHIN1/NM_198929.4/0;CC=c.1360-2692T>C;VC=Intron;Gene=PYHIN1/NM_198930.3/0;CC=c.1333-2692T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:206:23.93:0.00:23.93:1.00:0.00:1.00:60:34.3:0:0:97:54:20:NM_152501.4(PYHIN1) c.*5+238T>C,NM_152501.4(PYHIN1) c.*5+238T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 158946518 . C . . NT END=158984458;NT GT ./. 1 158946629 rs71084296 A AATATATGTAT 20 sb,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;Gene=PYHIN1/NM_152501.4/1;CC=c.*151_*160dupGTATATATAT;VC=3UTR;Gene=PYHIN1/NM_198928.4/0;CC=c.*151_*160dupGTATATATAT;VC=3UTR;Gene=PYHIN1/NM_198929.4/0;CC=c.*119_*128dupGTATATATAT;VC=3UTR;Gene=PYHIN1/NM_198930.3/0;CC=c.*119_*128dupGTATATATAT;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,AATATATGTAT:7:1:6:0:1,6:32,182:0.00,19.81:0.00,1.85:0.00,17.96:0.00,1.00:0.00,0.90:0.00,1.00:60,70:0.0,28.5:0,0:0,0:136,65:14,60:0,25:-,NM_152501.4(PYHIN1) c.*151_*160dupGTATATATAT:-,0.81:-,NOT_FOUND 1 158984259 rs200554406 AATT A 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AATT/0.3654,A/0.6346;NP=418;PC=0.001;Gene=IFI16/NM_001206567.1/0;CC=c.-20-191_-20-189delATT;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.-20-191_-20-189delATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:6:6:191:21.96:21.96:0.00:1.00:1.00:0.00:70:0.0:0:0:24:126:14:NM_005531.2(IFI16) c.-20-191_-20-189delATT,NM_005531.2(IFI16) c.-20-191_-20-189delATT:0.66,0.66:NOT_FOUND,NOT_FOUND 1 158984736 . G . . NT END=158985661;NT GT ./. 1 158985778 . G . . NT END=158986322;NT GT ./. 1 158986225 rs856042 T C 78 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.3594,C/0.6406;Gene=IFI16/NM_001206567.1/0;CC=c.381+448T>C;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.382-98T>C;VC=Intron;DM=IFI16/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:19:0:0:21:682:78.18:64.61:13.57:1.00:1.00:1.00:60:41.2:0:0:38:112:14:NM_005531.2(IFI16) c.382-98T>C,NM_005531.2(IFI16) c.382-98T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 1 158986477 rs866484 G C 312 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.3638,C/0.6362;Gene=IFI16/NM_001206567.1/0;CC=c.381+700G>C;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.536G>C;ProtCh=p.S179T;VC=Missense;DM=IFI16/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:82:44:0:0:82:2735:312.48:121.87:190.61:1.00:1.00:1.00:60:40.3:0:0:85:63:24:NM_005531.2(IFI16) c.536G>C (p.Ser179Thr),NM_005531.2(IFI16) c.536G>C (p.Ser179Thr):0.66,0.66:0.671152,0.671152 1 158986491 . G . . NT END=158988018;NT GT ./. 1 158987780 rs856045 T A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1034,A/0.8966;Gene=IFI16/NM_001206567.1/0;CC=c.382-239T>A;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.550-239T>A;VC=Intron;DM=IFI16/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:46.6:0:0:15:136:11:NM_005531.2(IFI16) c.550-239T>A,NM_005531.2(IFI16) c.550-239T>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 158987941 rs856046 A G 78 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4886,G/0.5114;Gene=IFI16/NM_001206567.1/0;CC=c.382-78A>G;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.550-78A>G;VC=Intron;DM=IFI16/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A,G:22:20:0:0:1,21:9,694:0.00,77.94:0.00,65.97:0.00,11.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,57.1:0,0:0,0:131,38:18,107:0,30:NM_005531.2(IFI16) c.550-78A>G,NM_005531.2(IFI16) c.550-78A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 158988442 . G . . NT END=158990130;NT GT ./. 1 158990320 . G . . NT END=159002313;NT GT ./. 1 158990412 rs856049 A G 56 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4445,G/0.5555;PC=0.001;Gene=IFI16/NM_001206567.1/0;CC=c.993+93A>G;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1161+93A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:1:0:0:16:484:55.99:1.74:54.25:1.00:1.00:1.00:60:43.4:0:0:120:31:28:NM_005531.2(IFI16) c.1161+93A>G,NM_005531.2(IFI16) c.1161+93A>G:0.62,0.62:NOT_FOUND,NOT_FOUND 1 159002146 rs568251711 C CA 8 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9972,CA/0.002796;NP=4;PC=0.004;Gene=IFI16/NM_001206567.1/0;CC=c.994-160_994-159insA;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1162-160_1162-159insA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,CA:11:11:3:0:8,3:273,98:0.00,8.43:0.00,8.43:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:31.2,70.7:0,0:0,0:96,11:54,139:31,3:-,NM_005531.2(IFI16) c.1162-168_1162-167insA:-,NOT_FOUND:-,NOT_FOUND 1 159002155 rs856058 T A 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3674,A/0.6326;PC=0.001;Gene=IFI16/NM_001206567.1/0;CC=c.994-159T>A;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1162-159T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:1:9:263:30.56:30.56:0.00:1.00:1.00:0.00:60:58.9:0:0:39:112:23:NM_005531.2(IFI16) c.1162-159T>A,NM_005531.2(IFI16) c.1162-159T>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 159002222 rs861318 A G 90 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3672,G/0.6328;Gene=IFI16/NM_001206567.1/0;CC=c.994-92A>G;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1162-92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A,G:25:24:0:0:1,24:33,803:0.00,89.92:0.00,82.95:0.00,6.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,77.1:0,0:0,0:17,42:127,108:0,33:NM_005531.2(IFI16) c.1162-92A>G,NM_005531.2(IFI16) c.1162-92A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 159002301 rs2518553 T C 209 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.3698,C/0.6302;Gene=IFI16/NM_001206567.1/0;CC=c.994-13T>C;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1162-13T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C,T:58:50:0:0:57,1:1837,35:208.56,0.00:163.38,0.00:45.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:85.1,11.0:0,0:0,0:52,96:87,48:31,0:NM_005531.2(IFI16) c.1162-13T>C,NM_005531.2(IFI16) c.1162-13T>C:0.68,0.68:0.686068,0.686068 1 159002377 rs1057027 C A 289 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.369,A/0.631;PC=0.001;Gene=IFI16/NM_001206567.1/0;CC=c.1057C>A;ProtCh=p.R353S;VC=Missense;Gene=IFI16/NM_005531.2/1;CC=c.1225C>A;ProtCh=p.R409S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:75:53:0:0:75:2528:288.55:158.60:129.95:1.00:1.00:1.00:60:85.6:0:0:62:88:34:NM_005531.2(IFI16) c.1225C>A (p.Arg409Ser),NM_005531.2(IFI16) c.1225C>A (p.Arg409Ser):0.68,0.68:0.686068,0.686068 1 159002389 rs1057028 T A 284 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.3692,A/0.6308;Gene=IFI16/NM_001206567.1/0;CC=c.1069T>A;ProtCh=p.Y357N;VC=Missense;Gene=IFI16/NM_005531.2/1;CC=c.1237T>A;ProtCh=p.Y413N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:54:0:0:79:2464:283.84:152.61:131.22:1.00:1.00:1.00:60:80.8:0:0:74:76:36:NM_005531.2(IFI16) c.1237T>A (p.Tyr413Asn),NM_005531.2(IFI16) c.1237T>A (p.Tyr413Asn):0.68,0.68:0.686145,0.686145 1 159002482 . G . . NT END=159015086;NT GT ./. 1 159002557 rs1633256 A G 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.3702,G/0.6298;Gene=IFI16/NM_001206567.1/0;CC=c.1161+76A>G;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1329+76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:5:0:0:33:1126:128.26:12.08:116.18:1.00:1.00:1.00:60:38.4:0:0:108:43:34:NM_005531.2(IFI16) c.1329+76A>G,NM_005531.2(IFI16) c.1329+76A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 159002577 rs58508050 TGGATTG T 94 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=TGGATTG/0.3706,T/0.6294;DB;DBA=NA;PAF=TGGATTG/0.3706,T/0.6294;NP=2911;PC=0.005;Gene=IFI16/NM_001206567.1/0;CC=c.1161+98_1161+103delGATTGG;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1329+98_1329+103delGATTGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TGGATTG,T:28:2:0:26:2,26:62,850:0.00,94.27:0.00,5.62:0.00,88.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.5,34.7:0,0:0,0:145,91:3,60:1,28:NM_005531.2(IFI16) c.1329+97_1329+102delGGATTG,NM_005531.2(IFI16) c.1329+97_1329+102delGGATTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 159014967 rs142018488 A G 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=496;PC=0.002;Gene=IFI16/NM_001206567.1/0;CC=c.1162-120A>G;VC=Intron;Gene=IFI16/NM_005531.2/1;CC=c.1330-4255A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:466:53.28:53.28:0.00:1.00:1.00:0.00:40:33.3:0:0:44:106:30:NM_005531.2(IFI16) c.1330-120A>G,NM_005531.2(IFI16) c.1330-120A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 159015255 . G . . NT END=159019221;NT GT ./. 1 159019390 . G . . NT END=159021468;NT GT ./. 1 159021889 . G . . NT END=159023322;NT GT ./. 1 159023515 . G . . NT END=159024610;NT GT ./. 1 159024692 . A . . NT END=159032481;NT GT ./. 1 159032255 rs2793845 G T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2167,T/0.7833;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:226:25.94:25.94:0.00:1.00:1.00:0.00:60:39.7:0:0:49:102:9:chr1 g.159032254G>T (intergenic),chr1 g.159032254G>T (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 159032509 . C . . NT END=159033275;NT GT ./. 1 159033465 . C . . NT END=159035699;NT GT ./. 1 159035656 rs61828164 C T 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.9928,T/0.007188;Gene=AIM2/NM_004833.1/1;CC=c.816+44G>A;VC=Intron;DM=AIM2/HIN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:48:0:0:25,27:819,824:0.00,79.50:0.00,76.02:0.00,3.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,45.0:0,0:0,0:60,39:89,112:29,20:-,NM_004833.1(AIM2) c.816+44G>A:-,0.01:-,0.012542 1 159036120 . C . . NT END=159038357;NT GT ./. 1 159038492 . C . . NT END=159043027;NT GT ./. 1 159043290 . C . . NT END=159141555;NT GT ./. 1 159113371 rs6143439 TACACACAC T 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=51;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:4:3:128:10.66:7.00:3.65:0.85:0.99:0.83:60:8.0:1:0:53:98:26:chr1 g.159113372_159113379delACACACAC (intergenic),chr1 g.159113372_159113379delACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 159141644 . G . . NT END=159159560;NT GT ./. 1 159159663 . G . . NT END=159161725;NT GT ./. 1 159161867 . G . . NT END=159162367;NT GT ./. 1 159162174 rs2814767 G T 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8552,T/0.1448;Gene=CADM3/NM_021189.3/1;CC=c.332-194G>T;VC=Intron;Gene=CADM3/NM_001127173.1/0;CC=c.230-194G>T;VC=Intron;DM=CADM3/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:17:11:0:0:7,10:241,333:0.00,33.07:0.00,15.62:0.00,17.45:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,41.4:0,0:0,0:64,91:87,60:57,40:-,NM_021189.3(CADM3) c.332-194G>T:-,0.13:-,NOT_FOUND 1 159162521 . G . . NT END=159163212;NT GT ./. 1 159163119 rs862990 C T 117 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.1645,T/0.8355;Gene=CADM3/NM_021189.3/1;CC=c.485-94C>T;VC=Intron;Gene=CADM3/NM_001127173.1/0;CC=c.383-94C>T;VC=Intron;DM=CADM3/C2-set_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:30:0:0:31:1023:117.03:99.43:17.60:1.00:1.00:1.00:60:38.7:0:0:53:98:30:NM_021189.3(CADM3) c.485-94C>T,NM_021189.3(CADM3) c.485-94C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 159163351 . G . . NT END=159163659;NT GT ./. 1 159163831 . G . . NT END=159166153;NT GT ./. 1 159163976 rs2814766 G T 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9046,T/0.09545;Gene=CADM3/NM_021189.3/1;CC=c.793+146G>T;VC=Intron;Gene=CADM3/NM_001127173.1/0;CC=c.691+146G>T;VC=Intron;DM=CADM3/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,G,T:16:0:0:0:1,7,8:6,182,251:-0.02,0.00,24.40:0.00,0.00,0.00:-0.02,0.00,24.40:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:57.0,23.0,36.5:0,0,0:0,0,0:142,102,58:-4,48,92:0,22,24:-,NM_021189.3(CADM3) c.793+146G>T:-,0.09:-,NOT_FOUND 1 159166245 . G . . NT END=159166680;NT GT ./. 1 159166851 . G . . NT END=159169540;NT GT ./. 1 159169641 rs862999 T C 332 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.1689,C/0.8311;Gene=CADM3/NM_021189.3/1;CC=c.1155T>C;ProtCh=p.L385=;VC=Silent;Gene=CADM3/NM_001127173.1/0;CC=c.1053T>C;ProtCh=p.L351=;VC=Silent;Gene=CADM3-AS1/NR_037870.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:89:60:0:0:89:2901:332.29:156.03:176.26:1.00:1.00:1.00:60:40.1:0:0:92:52:37:NM_021189.3(CADM3) c.1155T>C (p.(=)),NM_021189.3(CADM3) c.1155T>C (p.(=)):0.83,0.83:0.789636,0.789636 1 159169667 . G . . NT END=159170593;NT GT ./. 1 159170308 rs67356211 GCACA G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;Gene=CADM3/NM_021189.3/1;CC=c.1181-252_1181-249delACAC;VC=Intron;Gene=CADM3/NM_001127173.1/0;CC=c.1079-252_1079-249delACAC;VC=Intron;Gene=CADM3-AS1/NR_037870.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:4:0:4:3:128:10.35:8.58:1.78:0.85:0.85:0.83:60:89.3:1:0:45:106:21:NM_021189.3(CADM3) c.1181-285_1181-282delCACA,NM_021189.3(CADM3) c.1181-285_1181-282delCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 159170343 rs115936758 C T 9 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9778,T/0.02216;Gene=CADM3/NM_021189.3/1;CC=c.1181-251C>T;VC=Intron;Gene=CADM3/NM_001127173.1/0;CC=c.1079-251C>T;VC=Intron;Gene=CADM3-AS1/NR_037870.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:4:0:0:1,3:36,88:0.00,9.25:0.00,7.73:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,89.3:0,0:0,0:13,63:138,88:0,22:-,NM_021189.3(CADM3) c.1181-251C>T:-,0.03:-,NOT_FOUND 1 159170713 . A . . NT END=159174699;NT GT ./. 1 159174820 . T . . NT END=159175191;NT GT ./. 1 159174824 rs863001 G C 218 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=3467;Gene=ACKR1/NM_002036.3/1;CC=c.21+54G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C:57:28:0:0:57:1907:217.86:56.35:161.51:1.00:1.00:1.00:60:40.8:0:0:107:41:22:NM_002036.3(DARC) c.21+54G>C,NM_002036.3(DARC) c.21+54G>C:1,1:NOT_FOUND,NOT_FOUND 1 159175004 rs17838198 CT C 22 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CT/0.2224,C/0.7776;NP=984;Gene=ACKR1/NM_002036.3/1;CC=c.21+238delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:CT,C:10:6:0:7:3,7:98,215:0.00,22.18:0.00,13.24:0.00,8.94:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,3.6:0,0:0,0:15,59:136,92:14,16:-,NM_002036.3(DARC) c.21+235delT:-,0.78:-,NOT_FOUND 1 159176272 . T . . NT END=159272154;NT GT ./. 1 159176490 rs12042349 C T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7798,A/.,T/0.2202;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:0:0:0:1,3:35,68:0.00,7.19:0.00,0.00:0.00,7.19:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,62.0:0,0:0,0:119,119:31,31:0,0:-,NR_037870.1(LOC100131825) n.-4278G>A:-,0.23:-,NOT_FOUND 1 159272210 . G . . NT END=159272643;NT GT ./. 1 159272665 . G . . NT END=159273717;NT GT ./. 1 159272764 rs12119226 C T 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8093,T/0.1907;Gene=FCER1A/NM_002001.3/1;CC=c.76+100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:6:0:0:13,12:419,369:0.00,35.10:0.00,4.62:0.00,30.48:0.00,1.00:0.00,0.97:0.00,1.00:60,60:2.6,37.2:0,0:0,0:82,116:69,33:48,12:-,NM_002001.3(FCER1A) c.76+100C>T:-,0.22:-,NOT_FOUND 1 159273973 . G . . NT END=159275777;NT GT ./. 1 159275706 rs2269718 G A 63 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.8682,A/0.1318;PC=0.008;Gene=FCER1A/NM_002001.3/1;CC=c.332-72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:33:0:0:21,13:624,423:62.51,0.00:54.59,0.00:7.92,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:53.1,3.2:0,0:0,0:44,91:104,60:23,36:NM_002001.3(FCER1A) c.332-72G>A,-:0.15,-:NOT_FOUND,- 1 159276036 . G . . NT END=159277537;NT GT ./. 1 159276153 rs2252226 C T 53 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3249,T/0.6751;Gene=FCER1A/NM_002001.3/1;CC=c.589+118C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:3:0:0:18,18:572,554:0.00,53.16:0.00,6.40:0.00,46.76:0.00,1.00:0.00,0.89:0.00,1.00:60,60:12.7,44.9:0,0:0,0:101,101:49,50:36,24:-,NM_002001.3(FCER1A) c.589+118C>T:-,0.7:-,NOT_FOUND 1 159276231 rs2269719 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8682,C/0.1318;Gene=FCER1A/NM_002001.3/1;CC=c.589+196T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:12:0:0:0:7,5:202,144:20.00,0.00:0.00,0.00:20.00,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:50.9,23.4:0,0:0,0:93,130:58,21:30,7:NM_002001.3(FCER1A) c.589+196T>C,-:0.15,-:NOT_FOUND,- 1 159277723 . T . . NT END=159283459;NT GT ./. 1 159283494 rs58037016 T C 135 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.8752,C/0.1248;Gene=OR10J3/NM_001004467.1/1;CC=c.956A>G;ProtCh=p.E319G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:95:74:0:0:42,53:1431,1657:134.86,0.00:94.22,0.00:40.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,8.7:0,0:0,0:82,56:64,94:29,35:NM_001004467.1(OR10J3) c.956A>G (p.Glu319Gly),-:0.13,-:0.04275,- 1 159283746 rs11265165 T C 154 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.8041,C/0.1959;Gene=OR10J3/NM_001004467.1/1;CC=c.704A>G;ProtCh=p.Q235R;VC=Missense;DM=OR10J3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:109:69:0:0:1,52,56:10,1616,1849:-0.13,153.95,0.00:-0.12,80.50,0.00:-0.01,73.44,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:93.0,33.8,9.1:0,0,0:0,0,0:59,80,71:92,69,73:0,42,38:NM_001004467.1(OR10J3) c.704A>G (p.Gln235Arg),-:0.21,-:0.103414,- 1 159284450 . C . . NT END=159409548;NT GT ./. 1 159400430 rs145412362 G GGTGTGTGT 10 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=4;PC=0.001;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GGTGTGTGT:3:5:5:0:3:160:10.26:6.71:3.55:0.78:0.78:0.87:60:70.0:2:0:54:97:9:chr1 g.159400430_159400431insGTGTGTGT (intergenic),chr1 g.159400430_159400431insGTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 159409479 rs12145616 T G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.8728,G/0.1272;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:32:31:0:0:17,15:535,518:52.00,0.00:46.31,0.00:5.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.2,23.9:0,0:0,0:47,62:98,85:37,48:NM_012351.2(OR10J1) c.-37-u33T>G,-:0.13,-:NOT_FOUND,- 1 159409533 rs10908721 G A 189 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.08926,A/0.9107;PC=0.002;Gene=OR10J1/NM_012351.2/1;CC=c.-16G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A:51:45:0:0:51:1645:188.73:132.47:56.27:1.00:1.00:1.00:60:44.0:0:0:45:98:26:NM_012351.2(OR10J1) c.-16G>A,NM_012351.2(OR10J1) c.-16G>A:0.91,0.91:0.910272,0.910272 1 159409734 rs10908722 G T 316 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.01178,T/0.9882;Gene=OR10J1/NM_012351.2/1;CC=c.186G>T;ProtCh=p.M62I;VC=Missense;DM=OR10J1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:89:61:0:0:89:2742:316.41:179.14:137.27:1.00:1.00:1.00:60:42.5:0:0:74:76:35:NM_012351.2(OR10J1) c.186G>T (p.Met62Ile),NM_012351.2(OR10J1) c.186G>T (p.Met62Ile):0.99,0.99:0.989236,0.989236 1 159409884 rs12118628 G A 138 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.8728,A/0.1272;PC=0.262;Gene=OR10J1/NM_012351.2/1;CC=c.336G>A;ProtCh=p.M112I;VC=Missense;DM=OR10J1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:52:0:0:45,36:1412,1189:138.50,0.00:70.99,0.00:67.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,3.8:0,0:0,0:66,54:81,93:29,36:NM_012351.2(OR10J1) c.336G>A (p.Met112Ile),-:0.13,-:0.09757,- 1 159410512 . C . . NT END=159504867;NT GT ./. 1 159461877 rs10752629 T G 13 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.08387,G/0.9161 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:1:0:0:4:113:13.16:1.94:11.22:1.00:1.00:1.00:60:126.8:0:0:88:61:39:chr1 g.159461876T>G (intergenic),chr1 g.159461876T>G (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 159461890 rs10797040 G A,C 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2011,A/0.7989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,C:4:1:0:0:3,1:104,6:11.46,0.48:1.88,0.00:9.58,0.48:0.85,0.00:0.83,0.00:0.85,0.00:60,60:90.0,250.0:0,0:0,0:136,14:14,135:8,0:chr1 g.159461889G>A (intergenic),chr1 g.159461889G>C (intergenic):0.79,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 159505297 rs4656837 C T 181 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.4471,T/0.5529;Gene=OR10J5/NM_001004469.1/1;CC=c.501G>A;ProtCh=p.P167=;VC=Silent;DM=OR10J5/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:70:0:0:45,57:1432,1839:0.00,180.67:0.00,101.28:0.00,79.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,42.0:0,0:0,0:71,51:74,98:37,33:-,NM_001004469.1(OR10J5) c.501G>A (p.(=)):-,0.57:-,0.598339 1 159505798 . T . . NT END=159557711;NT GT ./. 1 159557521 rs6689429 A G 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5915,G/0.4085 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G:7:7:0:0:1,6:34,173:0.00,18.86:0.00,18.86:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,41.0:0,0:0,0:5,56:146,94:0,19:-,NM_001639.3(APCS) c.-96-u95A>G:-,0.42:-,NOT_FOUND 1 159557776 . G . . NT END=159557890;NT GT ./. 1 159558258 rs2808661 A G 313 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.09964,G/0.9004;Gene=APCS/NM_001639.3/1;CC=c.432A>G;ProtCh=p.V144=;VC=Silent;DM=APCS/Pentaxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:84:54:0:0:1,83:22,2756:0.00,312.81:0.00,152.62:0.00,160.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:68.0,38.6:0,0:0,0:34,82:116,64:0,38:NM_001639.3(APCS) c.432A>G (p.(=)),NM_001639.3(APCS) c.432A>G (p.(=)):0.92,0.92:0.866677,0.866677 1 159558499 . G . . NT END=159683314;NT GT ./. 1 159558821 rs2808662 A G 13 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1084,G/0.8916 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:110:12.86:0.00:12.86:1.00:0.00:1.00:60:53.5:0:0:144:7:1:chr1 g.159558820A>G (intergenic),chr1 g.159558820A>G (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 1 159566336 rs2794523 A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5168,G/0.4832 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:4:0:0:1,3:33,89:0.00,9.35:0.00,7.98:0.00,1.38:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,53.0:0,0:0,0:22,40:129,110:0,22:-,chr1 g.159566335A>G (intergenic):-,0.49:-,NOT_FOUND 1 159668874 rs67539715 TAC T 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=73;PC=0.059;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TAC,T:4:5:0:3:2,2:67,99:0.00,6.41:0.00,6.36:0.00,0.05:0.00,0.91:0.00,0.91:0.00,0.70:60,60:23.0,8.5:0,1:0,0:40,37:100,73:32,22:-,chr1 g.159668875_159668876delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 159683929 . C . . NT END=159684214;NT GT ./. 1 159684047 rs59936680 CCACACACA C 27 idl,nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=55;PC=0.916;Gene=CRP/NM_000567.2/1;CC=c.62-127_62-120delTGTGTGTG;VC=Intron;DM=CRP/Pentaxin;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,CCACACACA,I,C:37:24:8:19:1,18,7,11:33,563,259,519:1.95,0.00,19.03,27.09:2.06,0.00,12.57,13.12:-0.11,0.00,6.46,13.97:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:163.0,16.7,21.6,28.9:0,0,1,8:0,0,0,0:5,127,54,80:146,23,91,71:0,11,19,18:-,NM_000567.2(CRP) c.62-127_62-120delTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 159684121 rs58518386 CT C 11 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=35;PC=0.233;Gene=CRP/NM_000567.2/1;CC=c.61+93delA;VC=Intron;DM=CRP/Pentaxin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:CT,I,C:38:25:4:8:30,3,5:938,130,247:0.00,7.03,10.73:0.00,2.09,7.23:0.00,4.94,3.50:0.00,0.00,0.76:0.00,0.00,0.90:0.00,0.00,0.83:60,60,60:32.2,74.7,33.8:0,1,3:0,0,0:111,69,29:25,74,120:26,37,23:-,NM_000567.2(CRP) c.61+93delA:-,NOT_FOUND:-,NOT_FOUND 1 159684293 . A . . NT END=159750890;NT GT ./. 1 159751158 . G . . NT END=159751942;NT GT ./. 1 159752129 . G . . NT END=159770383;NT GT ./. 1 159770405 . T . . NT END=159772172;NT GT ./. 1 159772247 . T . . NT END=159776385;NT GT ./. 1 159776408 . T . . NT END=159777967;NT GT ./. 1 159778236 . T . . NT END=159778750;NT GT ./. 1 159778699 rs12042065 G A 133 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.6911,A/0.3089;PC=0.028;Gene=FCRL6/NM_001284217.1/1;CC=c.341-52G>A;VC=Intron;Gene=FCRL6/NM_001004310.2/0;CC=c.320-52G>A;VC=Intron;DM=FCRL6/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A,T:40:37:0:0:38,2:1155,20:132.67,0.73:114.56,0.30:18.10,0.43:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,124.0:0,0:0,0:52,64:99,86:34,4:NM_001004310.2(FCRL6) c.320-52G>A,NM_001004310.2(FCRL6) c.320-52G>A:0.33,0.33:0.377355,0.377355 1 159779037 . T . . NT END=159779191;NT GT ./. 1 159779475 . T . . NT END=159779883;NT GT ./. 1 159780008 . T . . NT END=159783278;NT GT ./. 1 159783346 . T . . NT END=159784010;NT GT ./. 1 159784084 . T . . NT END=159785217;NT GT ./. 1 159785250 . G . . NT END=159785325;NT GT ./. 1 159785284 rs4411129 C G 293 nt VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.2043,G/0.7957;Gene=FCRL6/NM_001284217.1/1;CC=c.1200+35C>G;VC=Intron;Gene=FCRL6/NM_001004310.2/0;CC=c.1179+35C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:78:58:0:0:77,1:2567,8:292.92,0.08:173.72,0.08:119.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,83.0:0,0:0,0:72,65:78,84:46,0:NM_001004310.2(FCRL6) c.1179+35C>G,NM_001004310.2(FCRL6) c.1179+35C>G:0.8,0.8:0.778794,0.778794 1 159785452 . T . . NT END=159796688;NT GT ./. 1 159796729 . G . . NT END=159799655;NT GT ./. 1 159799599 rs397789865 C CA 187 nt VT=INS;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.1234,CA/0.8766,CG/.;DB;DBA=NA;PAF=C/0.1234,CA/0.8766;NP=1;NP=3335;Gene=SLAMF8/NM_020125.2/1;CC=c.41-54dupA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A,C,G,CA:56:55:52:0:1,2,1,52:29,59,9,1664:1.63,0.00,0.12,187.23:1.63,0.00,0.12,166.28:0.00,0.00,0.00,20.95:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:29.0,18.0,121.0,5.1:0,0,1,0:0,0,0,0:0,146,129,34:151,3,22,116:0,2,0,20:NM_020125.2(SLAMF8) c.41-57_41-56insA,NM_020125.2(SLAMF8) c.41-57_41-56insA:0.87,0.87:NOT_FOUND,NOT_FOUND 1 159799910 rs34687326 G A 283 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=G/0.9692,A/0.03075;PC=1.000;Gene=SLAMF8/NM_020125.2/1;CC=c.295G>A;ProtCh=p.G99S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:171:108:0:0:86,85:2932,2654:282.78,0.00:120.33,0.00:162.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,10.6:0,0:0,0:57,63:90,75:37,39:NM_020125.2(SLAMF8) c.295G>A (p.Gly99Ser),-:0.05,-:0.087959,- 1 159799983 . G . . NT END=159802665;NT GT ./. 1 159802972 . G . . NT END=159803051;NT GT ./. 1 159803160 . G . . NT END=159804973;NT GT ./. 1 159807102 . G . . NT END=159809061;NT GT ./. 1 159810657 . C . . NT END=159810915;NT GT ./. 1 159811026 . c . . NT END=159824542;NT GT ./. 1 159824817 . C . . NT END=159824965;NT GT ./. 1 159824967 rs2501340 G C 531 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.06889,C/0.9311;Gene=C1orf204/NM_001134233.1/1;CC=c.61C>G;ProtCh=p.Q21E;VC=Missense;Gene=VSIG8/NM_001013661.1/1;CC=c.972-151C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:141:85:0:0:141:4642:531.22:259.92:271.30:1.00:1.00:1.00:60:53.1:0:0:70:74:34:NM_001134233.1(C1orf204) c.61C>G (p.Gln21Glu),NM_001134233.1(C1orf204) c.61C>G (p.Gln21Glu):0.92,0.92:0.899255,0.899255 1 159825061 rs2501339 G C 550 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=G/0.3676,C/0.6324;Gene=C1orf204/NM_001134233.1/1;CC=c.-34C>G;VC=5UTR;Gene=VSIG8/NM_001013661.1/1;CC=c.972-245C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:143:88:0:0:143:4824:550.44:238.09:312.35:1.00:1.00:1.00:60:52.3:0:0:73:77:35:NM_001134233.1(C1orf204) c.-34C>G,NM_001134233.1(C1orf204) c.-34C>G:0.61,0.61:0.602278,0.602278 1 159825435 . a . . NT END=159825672;NT GT ./. 1 159825872 . C . . NT END=159826313;NT GT ./. 1 159826048 rs2494500 C T 99 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.00619,T/0.9938;Gene=VSIG8/NM_001013661.1/1;CC=c.773-177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:13:0:0:28:859:99.17:48.80:50.37:1.00:1.00:1.00:60:48.9:0:0:78:73:50:NM_001013661.1(VSIG8) c.773-177G>A,NM_001013661.1(VSIG8) c.773-177G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 159826434 . C . . NT END=159827534;NT GT ./. 1 159827365 rs78310784 C CA 17 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=3;PC=0.005;Gene=VSIG8/NM_001013661.1/1;CC=c.652+169_652+170insT;VC=Intron;DM=VSIG8/V-set;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,CA,D:12:16:9:3:4,6,2:130,278,97:0.00,17.29,5.22:0.00,17.29,5.22:0.00,0.00,0.00:0.00,0.95,0.00:0.00,0.95,0.00:0.00,0.00,0.00:60,60,60:65.5,7.2,14.0:0,3,1:0,0,0:64,67,54:82,84,95:33,36,16:-,NM_001013661.1(VSIG8) c.652+169_652+170insT:-,NOT_FOUND:-,NOT_FOUND 1 159827757 . C . . NT END=159827879;NT GT ./. 1 159828082 . C . . NT END=159828523;NT GT ./. 1 159828128 rs2494504 A G 249 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.06929,G/0.9307;PC=0.003;Gene=VSIG8/NM_001013661.1/1;CC=c.229-47T>C;VC=Intron;DM=VSIG8/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:A,G:66:16:0:0:1,65:8,2192:0.00,248.66:0.00,38.45:0.00,210.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.0,40.8:0,0:0,0:44,112:107,32:0,25:NM_001013661.1(VSIG8) c.229-47T>C,NM_001013661.1(VSIG8) c.229-47T>C:0.92,0.92:0.899969,0.899969 1 159828703 . C . . NT END=159832262;NT GT ./. 1 159832312 . G . . NT END=159842274;NT GT ./. 1 159842354 . C . . NT END=159842733;NT GT ./. 1 159842959 . C . . NT END=159846345;NT GT ./. 1 159846580 . C . . NT END=159847138;NT GT ./. 1 159847253 . C . . NT END=159850343;NT GT ./. 1 159850401 rs7550537 C G 326 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.877,G/0.123;PC=0.287;Gene=CFAP45/NM_012337.2/1;CC=c.987G>C;ProtCh=p.L329=;VC=Silent;DM=CFAP45/TPH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T,I:90:65:1:0:88,1,1:2853,7,29:326.29,0.05,1.43:179.57,0.00,1.43:146.72,0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.6,88.0,165.0:0,0,1:0,0,0:68,43,57:80,104,94:29,0,0:NM_012337.2(CCDC19) c.987G>C (p.(=)),NM_012337.2(CCDC19) c.987G>C (p.(=)):0.11,0.11:0.113947,0.113947 1 159850491 . C . . NT END=159854225;NT GT ./. 1 159854356 . C . . NT END=159856300;NT GT ./. 1 159856130 . T TA 12 rn VT=INS;SST=Single;DP=10;NP=1;PC=0.001;Gene=CFAP45/NM_012337.2/1;CC=c.767+170_767+171insT;VC=Intron;DM=CFAP45/TPH;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:T,TA:10:10:4:0:6,4:200,133:0.00,12.29:0.00,12.29:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:14.8,3.0:0,0:0,0:74,38:76,112:22,17:-,NM_012337.2(CCDC19) c.767+170_767+171insT:-,NOT_FOUND:-,NOT_FOUND 1 159856480 . C . . NT END=159857630;NT GT ./. 1 159857331 rs2501323 A G 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.07169,G/0.9283;Gene=CFAP45/NM_012337.2/1;CC=c.588+300T>C;VC=Intron;DM=CFAP45/TPH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:232:27.01:27.01:0.00:1.00:1.00:0.00:60:30.6:0:0:79:71:17:NM_012337.2(CCDC19) c.588+300T>C,NM_012337.2(CCDC19) c.588+300T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 159857802 . C . . NT END=159858141;NT GT ./. 1 159858287 . C . . NT END=159860269;NT GT ./. 1 159860413 . C . . NT END=159862969;NT GT ./. 1 159863096 . C . . NT END=159867855;NT GT ./. 1 159868059 . C . . NT END=159869885;NT GT ./. 1 159869889 . C . . NT END=159888588;NT GT ./. 1 159888732 . C . . NT END=159889062;NT GT ./. 1 159889167 . C . . NT END=159889449;NT GT ./. 1 159889626 . C . . NT END=159890118;NT GT ./. 1 159889686 rs2252815 G A 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.4894,A/0.5106;Gene=TAGLN2/NM_001277224.1/0;CC=c.244-61C>T;VC=Intron;Gene=TAGLN2/NM_001277223.1/0;CC=c.181-61C>T;VC=Intron;Gene=TAGLN2/NM_003564.2/1;CC=c.181-61C>T;VC=Intron;DM=TAGLN2/CH;DM=TAGLN2/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:14:0:0:18,30:516,1022:46.35,0.00:5.12,0.00:41.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,5.3:0,0:0,0:100,94:43,57:24,30:NM_003564.1(TAGLN2) c.181-61C>T,-:0.54,-:NOT_FOUND,- 1 159890372 . C . . NT END=159893225;NT GT ./. 1 159890459 rs11265297 T C 83 nt VT=SNV;PN=G;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.7033,C/0.2967;Gene=TAGLN2/NM_001277224.1/0;CC=c.36-132A>G;VC=Intron;Gene=TAGLN2/NM_001277223.1/0;CC=c.-28-132A>G;VC=Intron;Gene=TAGLN2/NM_003564.2/1;CC=c.-28-132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:16:0:0:26,37:888,1175:82.67,0.00:15.26,0.00:67.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,11.9:0,0:0,0:115,104:25,47:21,25:NM_003564.1(TAGLN2) c.-28-132A>G,-:0.3,-:NOT_FOUND,- 1 159893261 . G . . NT END=159897134;NT GT ./. 1 159897317 . C . . NT END=159897549;NT GT ./. 1 159897678 . C . . NT END=159897947;NT GT ./. 1 159897681 rs60386431 TA T 113 idl,rn VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=62;PC=0.228;Gene=IGSF9/NM_001135050.1/1;CC=c.3231-5delT;VC=Intron;Gene=IGSF9/NM_020789.3/0;CC=c.3183-5delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TA,I,T:58:34:1:53:1,18,1,38:13,506,27,1515:0.14,0.00,1.23,113.28:-0.02,0.00,-0.02,48.50:0.17,0.00,1.26,64.77:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:12,60,60,70:240.0,21.5,15.0,29.2:0,0,0,13:0,0,0,0:132,132,114,86:1,13,36,64:0,15,0,30:-,NM_001135050.1(IGSF9) c.3231-5delT:-,NOT_FOUND:-,NOT_FOUND 1 159898809 . C . . NT END=159899140;NT GT ./. 1 159899184 . C . . NT END=159899427;NT GT ./. 1 159899605 . C . . NT END=159899680;NT GT ./. 1 159899766 . C . . NT END=159899978;NT GT ./. 1 159900230 . C . . NT END=159900481;NT GT ./. 1 159900658 . C . . NT END=159900927;NT GT ./. 1 159901052 . C . . NT END=159901242;NT GT ./. 1 159901394 . C . . NT END=159901601;NT GT ./. 1 159901719 . C . . NT END=159902301;NT GT ./. 1 159902443 . C . . NT END=159903979;NT GT ./. 1 159904123 . C . . NT END=159904214;NT GT ./. 1 159904361 . C . . NT END=159904470;NT GT ./. 1 159904613 . C . . NT END=159906188;NT GT ./. 1 159906307 . C . . NT END=159906543;NT GT ./. 1 159906699 . C . . NT END=159907475;NT GT ./. 1 159907629 . C . . NT END=159912752;NT GT ./. 1 159912533 rs147577229 AGTGT A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;Gene=IGSF9/NM_001135050.1/1;CC=c.247+216_247+219delACAC;VC=Intron;Gene=IGSF9/NM_020789.3/0;CC=c.247+216_247+219delACAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:AGTGT,G,A:5:5:0:2:2,1,2:67,9,66:0.00,0.50,6.31:0.00,0.55,4.64:0.00,-0.05,1.68:0.00,0.00,0.91:0.00,0.00,0.91:0.00,0.00,0.70:60,60,60:0.0,110.0,0.0:0,0,0:0,0,0:129,48,29:20,101,120:5,0,14:-,NM_001135050.1(IGSF9) c.247+216_247+219delACAC:-,NOT_FOUND:-,NOT_FOUND 1 159912942 . C . . NT END=159913186;NT GT ./. 1 159913053 rs41264841 C T 100 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.9159,T/0.08407;Gene=IGSF9/NM_001135050.1/1;CC=c.59-112G>A;VC=Intron;Gene=IGSF9/NM_020789.3/0;CC=c.59-112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:24:0:0:16,31:482,988:0.00,100.49:0.00,55.05:0.00,45.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,45.7:0,0:0,0:69,72:81,79:50,37:-,NM_001135050.1(IGSF9) c.59-112G>A:-,0.09:-,NOT_FOUND 1 159913245 . A . . NT END=159921450;NT GT ./. 1 159913388 rs1316275 G A 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4487,A/0.5513;Gene=IGSF9/NM_001135050.1/1;CC=c.-144C>T;VC=5UTR;Gene=IGSF9/NM_020789.3/0;CC=c.-144C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:26:0:0:0:11,14,1:345,441,17:32.30,0.00,0.58:0.00,0.00,0.00:32.30,0.00,0.58:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.5,31.6,225.0:0,0,0:0,0,0:77,111,49:56,40,100:40,20,0:NM_001135050.1(IGSF9) c.-144C>T,-:0.57,-:NOT_FOUND,- 1 159921657 . C . . NT END=159922051;NT GT ./. 1 159922325 . C . . NT END=159923098;NT GT ./. 1 159922369 rs2840583 C T 213 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.1072,T/0.8928;Gene=SLAMF9/NM_001146172.1/0;CC=c.392-713G>A;VC=Intron;Gene=SLAMF9/NM_001146173.1/0;CC=c.256-713G>A;VC=Intron;Gene=SLAMF9/NM_033438.3/1;CC=c.392-45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:14:0:0:56:1860:212.69:31.17:181.53:1.00:1.00:1.00:60:42.9:0:0:102:47:29:NM_033438.3(SLAMF9) c.392-45G>A,NM_033438.3(SLAMF9) c.392-45G>A:0.91,0.91:0.859603,0.859603 1 159922458 rs1317520 A G 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7286,G/0.2714;PC=0.071;Gene=SLAMF9/NM_001146172.1/0;CC=c.391+641T>C;VC=Intron;Gene=SLAMF9/NM_001146173.1/0;CC=c.255+777T>C;VC=Intron;Gene=SLAMF9/NM_033438.3/1;CC=c.392-134T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:1:0:0:10,8:322,274:0.00,25.85:0.00,-0.26:0.00,26.10:0.00,0.99:0.00,0.63:0.00,1.00:60,60:29.2,53.8:0,0:0,0:63,84:88,66:37,43:-,NM_033438.3(SLAMF9) c.392-134T>C:-,0.28:-,NOT_FOUND 1 159922959 rs2249707 C T 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4145,T/0.5855;PC=0.005;Gene=SLAMF9/NM_001146172.1/0;CC=c.391+140G>A;VC=Intron;Gene=SLAMF9/NM_001146173.1/0;CC=c.255+276G>A;VC=Intron;Gene=SLAMF9/NM_033438.3/1;CC=c.391+140G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:13,12:428,369:0.00,35.09:0.00,35.09:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.4,47.8:0,0:0,0:43,20:107,130:33,8:-,NM_033438.3(SLAMF9) c.391+140G>A:-,0.6:-,NOT_FOUND 1 159923111 rs2789417 T G 266 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.1098,G/0.8902;PC=0.739;Gene=SLAMF9/NM_001146172.1/0;CC=c.379A>C;ProtCh=p.I127L;VC=Missense;Gene=SLAMF9/NM_001146173.1/0;CC=c.255+124A>C;VC=Intron;Gene=SLAMF9/NM_033438.3/1;CC=c.379A>C;ProtCh=p.I127L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:57:0:0:70:2327:266.02:197.72:68.30:1.00:1.00:1.00:60:41.8:0:0:50:98:27:NM_033438.3(SLAMF9) c.379A>C (p.Ile127Leu),NM_033438.3(SLAMF9) c.379A>C (p.Ile127Leu):0.9,0.9:0.858604,0.858604 1 159923444 . C . . NT END=159923881;NT GT ./. 1 159923628 rs2789416 A C 96 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.11,C/0.89;Gene=SLAMF9/NM_001146172.1/0;CC=c.47-185T>G;VC=Intron;Gene=SLAMF9/NM_001146173.1/0;CC=c.47-185T>G;VC=Intron;Gene=SLAMF9/NM_033438.3/1;CC=c.47-185T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:4:0:0:25:840:95.92:15.31:80.61:1.00:1.00:1.00:60:45.2:0:0:113:36:21:NM_033438.3(SLAMF9) c.47-185T>G,NM_033438.3(SLAMF9) c.47-185T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 159923928 . G . . NT END=160000257;NT GT ./. 1 160001530 . G . . NT END=160011182;NT GT ./. 1 160012323 . C . . NT END=160053820;NT GT ./. 1 160012493 rs3120973 G A 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7881,A/0.2119;Gene=KCNJ10/NM_002241.4/1;CC=c.1-171C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:A,C:10:0:0:0:9,1:279,10:31.78,0.56:0.00,0.00:31.78,0.56:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.0,162.0:0,0:0,0:128,82:22,68:20,0:NM_002241.4(KCNJ10) c.1-171C>T,NM_002241.4(KCNJ10) c.1-171C>T:0.25,0.25:NOT_FOUND,NOT_FOUND 1 160013106 rs60610623 A C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2528,C/0.7472;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KCNJ10/NM_002241.4/1;CC=c.1-784T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,C:5:4:0:0:1,4:31,111:0.00,11.87:0.00,9.05:0.00,2.82:0.00,0.96:0.00,1.00:0.00,0.99:1,60:0.0,72.8:0,0:0,0:39,62:6,58:0,11:-,NM_002241.4(KCNJ10) c.1-784T>G:-,0.8:-,NOT_FOUND 1 160054671 . G . . NT END=160057275;NT GT ./. 1 160054894 rs11587172 G T 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6903,T/0.3097;Gene=KCNJ9/NM_004983.2/1;CC=c.850+224G>T;VC=Intron;DM=KCNJ9/IRK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:372:42.92:0.00:42.92:1.00:0.00:1.00:60:37.7:0:0:126:25:24:NM_004983.2(KCNJ9) c.850+224G>T,NM_004983.2(KCNJ9) c.850+224G>T:0.34,0.34:NOT_FOUND,NOT_FOUND 1 160057522 rs3001040 C T 225 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.7518,G/.,T/0.2482;PC=0.530;Gene=KCNJ9/NM_004983.2/1;CC=c.1097C>T;ProtCh=p.A366V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:A,G,T:89:81:0:0:1,6,82:10,107,1899:0.11,7.06,225.11:0.11,1.17,205.13:0.00,5.89,19.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:58.0,66.7,34.3:0,0,0:0,0,0:77,50,67:72,62,79:0,17,37:NM_004983.2(KCNJ9) c.1097C>T (p.Ala366Val),NM_004983.2(KCNJ9) c.1097C>T (p.Ala366Val):0.29,0.29:0.188697,0.188697 1 160057608 . C . . NT END=160061612;NT GT ./. 1 160061729 . C . . NT END=160062071;NT GT ./. 1 160062486 . C . . NT END=160062713;NT GT ./. 1 160063122 . C . . NT END=160063499;NT GT ./. 1 160063962 . C . . NT END=160064658;NT GT ./. 1 160064418 rs2369406 T C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5004,C/0.4996;Gene=IGSF8/NM_052868.4/0;CC=c.442+241A>G;VC=Intron;Gene=IGSF8/NM_001206665.2/1;CC=c.442+241A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:143:16.64:16.64:0.00:1.00:1.00:0.00:60:40.2:0:0:53:98:18:NM_001206665.2(IGSF8) c.442+241A>G,NM_001206665.2(IGSF8) c.442+241A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 160064592 rs12044027 T C 145 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7396,C/0.2604;Gene=IGSF8/NM_052868.4/0;CC=c.442+67A>G;VC=Intron;Gene=IGSF8/NM_001206665.2/1;CC=c.442+67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:40:38:0:0:40:1262:145.15:121.99:23.16:1.00:1.00:1.00:60:53.9:0:0:53:97:37:NM_001206665.2(IGSF8) c.442+67A>G,NM_001206665.2(IGSF8) c.442+67A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 1 160065037 . C . . NT END=160067501;NT GT ./. 1 160067745 . A . . NT END=160068198;NT GT ./. 1 160068068 rs12046504 A C 168 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.5186,C/0.4814;Gene=IGSF8/NM_052868.4/0;CC=c.64+131T>G;VC=Intron;Gene=IGSF8/NM_001206665.2/1;CC=c.64+131T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:C:44:41:0:0:44:1471:168.07:137.06:31.02:1.00:1.00:1.00:60:47.8:0:0:61:90:30:NM_001206665.2(IGSF8) c.64+131T>G,NM_001206665.2(IGSF8) c.64+131T>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 160068295 . G . . NT END=160085651;NT GT ./. 1 160068309 . T G 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;PC=1.000;Gene=IGSF8/NM_052868.4/0;CC=c.-47A>C;VC=5UTR;Gene=IGSF8/NM_001206665.2/1;CC=c.-45-2A>C;VC=SpliceSiteUTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G,T:56:19:0:0:1,8,47:14,124,1351:-0.01,6.50,0.00:-0.12,-1.04,0.00:0.11,7.54,0.00:0.00,0.96,0.00:0.00,0.89,0.00:0.00,0.99,0.00:60,60,60:271.0,108.8,17.7:0,0,0:0,0,0:82,81,108:69,70,41:0,12,28:NM_001206665.2(IGSF8) c.-45-2A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 160068629 rs61247522 A C 29 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5264,C/0.4736;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:1:0:0:9:253:29.43:1.74:27.69:1.00:1.00:1.00:60:50.1:0:0:91:60:27:NM_001206665.2(IGSF8) c.-75-u11T>G,NM_001206665.2(IGSF8) c.-75-u11T>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 160085664 . G . . NT END=160090695;NT GT ./. 1 160085955 rs2070700 A C 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6967,C/0.3033;Gene=ATP1A2/NM_000702.3/1;CC=c.12+292A>C;VC=Intron;DM=ATP1A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:112:13.10:0.00:13.10:1.00:0.00:1.00:60:43.8:0:0:106:44:30:NM_000702.3(ATP1A2) c.12+292A>C,NM_000702.3(ATP1A2) c.12+292A>C:0.33,0.33:NOT_FOUND,NOT_FOUND 1 160090674 rs2854246 T C 219 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=2333;Gene=ATP1A2/NM_000702.3/1;CC=c.13-22T>C;VC=Intron;DM=ATP1A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C:61:51:0:0:61:1900:218.94:145.48:73.46:1.00:1.00:1.00:60:38.8:0:0:62:79:22:NM_000702.3(ATP1A2) c.13-22T>C,NM_000702.3(ATP1A2) c.13-22T>C:1,1:0.999766,0.999766 1 160090681 rs67915591 CCCTT C 203 nt VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=CCCTT/0.3107,C/0.6893;DB;DBA=NA;PAF=CCCTT/0.3107,C/0.6893;NP=1794;PC=0.008;Gene=ATP1A2/NM_000702.3/1;CC=c.13-11_13-8delTCCT;VC=Intron;DM=ATP1A2/E1-E2_ATPase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:CCCTT,C:61:51:0:57:4,57:130,1825:0.00,203.26:0.00,128.47:0.00,74.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.0,37.9:0,0:0,0:144,65:6,78:3,22:NM_000702.3(ATP1A2) c.13-14_13-11delCCTT,NM_000702.3(ATP1A2) c.13-14_13-11delCCTT:0.74,0.74:0.686105,0.686105 1 160090685 rs72633673 T C 13 idl;end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.008;Gene=ATP1A2/NM_000702.3/1;CC=c.13-11T>C;VC=Intron;DM=ATP1A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:58:4:108:12.69:7.58:5.11:1.00:1.00:1.00:60:43.2:0:0:0:128:0:NM_000702.3(ATP1A2) c.13-11T>C,NM_000702.3(ATP1A2) c.13-11T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 160090801 . G . . NT END=160090981;NT GT ./. 1 160091042 . G . . NT END=160093002;NT GT ./. 1 160093207 . G . . NT END=160093732;NT GT ./. 1 160093222 rs2820581 C T 208 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.05751,T/0.9425;Gene=ATP1A2/NM_000702.3/1;CC=c.381+16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:19:0:0:56:1813:207.93:47.67:160.26:1.00:1.00:1.00:60:41.2:0:0:112:38:22:NM_000702.3(ATP1A2) c.381+16C>T,NM_000702.3(ATP1A2) c.381+16C>T:0.95,0.95:0.949408,0.949408 1 160093847 . G . . NT END=160094085;NT GT ./. 1 160093911 rs2820582 T C 218 nt VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.04533,C/0.9547;Gene=ATP1A2/NM_000702.3/1;CC=c.495+65T>C;VC=Intron;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/Cation_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:C:60:36:0:0:60:1893:217.77:129.89:87.88:1.00:1.00:1.00:60:45.4:0:0:75:75:38:NM_000702.3(ATP1A2) c.495+65T>C,NM_000702.3(ATP1A2) c.495+65T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 160094221 . G . . NT END=160094925;NT GT ./. 1 160094458 rs1321655 A G 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=ATP1A2/NM_000702.3/1;CC=c.630+238A>G;VC=Intron;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/Cation_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:0:0:0:14:426:49.21:0.00:49.21:1.00:0.00:1.00:60:45.1:0:0:96:54:28:NM_000702.3(ATP1A2) c.630+238A>G,NM_000702.3(ATP1A2) c.630+238A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 160094556 rs1321656 A C 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.03415,C/0.9659;Gene=ATP1A2/NM_000702.3/1;CC=c.630+336A>C;VC=Intron;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/Cation_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:123:14.20:0.00:14.20:1.00:0.00:1.00:60:64.5:0:0:101:35:8:NM_000702.3(ATP1A2) c.630+336A>C,NM_000702.3(ATP1A2) c.630+336A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 160095044 . G . . NT END=160097341;NT GT ./. 1 160095127 rs7548116 T A 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4223,A/0.5777;Gene=ATP1A2/NM_000702.3/1;CC=c.748+84T>A;VC=Intron;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:0:0:0:13:427:48.89:0.00:48.89:1.00:0.00:1.00:60:47.5:0:0:104:46:11:NM_000702.3(ATP1A2) c.748+84T>A,NM_000702.3(ATP1A2) c.748+84T>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 160097611 . G . . NT END=160098277;NT GT ./. 1 160097666 rs6695366 G A 276 nt VT=SNV;PN=A;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.1847,A/0.8153;Gene=ATP1A2/NM_000702.3/1;CC=c.1017+56G>A;VC=Intron;DM=ATP1A2/E1-E2_ATPase;DM=ATP1A2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:18:0:0:76:2394:275.53:37.41:238.13:1.00:1.00:1.00:60:34.4:0:0:100:46:25:NM_000702.3(ATP1A2) c.1017+56G>A,NM_000702.3(ATP1A2) c.1017+56G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 160098312 . G . . NT END=160098441;NT GT ./. 1 160098641 . G . . NT END=160098769;NT GT ./. 1 160098880 . G . . NT END=160099055;NT GT ./. 1 160098927 rs5778151 A AG 110 nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2328,AG/0.7672;NP=3359;Gene=ATP1A2/NM_000702.3/1;CC=c.1326+49dupG;VC=Intron;DM=ATP1A2/Cation_ATPase;DM=ATP1A2/Cation_ATPase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A,G,AG:36:14:32:0:2,2,32:58,60,981:0.00,4.41,109.79:0.00,4.46,38.12:0.00,-0.05,71.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.5,39.5,16.5:0,0,0:0,0,0:147,2,91:3,149,58:0,0,40:NM_000702.3(ATP1A2) c.1326+48_1326+49insG,NM_000702.3(ATP1A2) c.1326+48_1326+49insG:0.76,0.76:0.821725,0.821725 1 160099191 . G . . NT END=160099891;NT GT ./. 1 160100082 . G . . NT END=160100211;NT GT ./. 1 160100388 . G . . NT END=160104273;NT GT ./. 1 160104004 rs146357011 TCACA T 11 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=14;Gene=ATP1A2/NM_000702.3/1;CC=c.1828-261_1828-258delCACA;VC=Intron;DM=ATP1A2/Cation_ATPase_C;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:6:4:88:10.65:9.16:1.49:1.00:1.00:1.00:60:24.2:0:0:56:92:20:NM_000702.3(ATP1A2) c.1828-269_1828-266delCACA,NM_000702.3(ATP1A2) c.1828-269_1828-266delCACA:0.35,0.35:NOT_FOUND,NOT_FOUND 1 160104025 rs371986832 C CCA 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4756,CCA/0.5244,CCACACA/.;DB;DBA=NA;PAF=NA;NP=1;NP=33;PC=0.005;Gene=ATP1A2/NM_000702.3/1;CC=c.1828-231_1828-230insCA;VC=Intron;DM=ATP1A2/Cation_ATPase_C;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,CCA:8:8:5:0:3,5:71,123:0.00,12.38:0.00,10.85:0.00,1.54:0.00,0.97:0.00,0.97:0.00,0.75:60,60:51.0,30.2:0,0:0,0:91,31:56,85:30,20:-,NM_000702.3(ATP1A2) c.1828-249_1828-248insCA:-,NOT_FOUND:-,NOT_FOUND 1 160104411 . G . . NT END=160104934;NT GT ./. 1 160105086 . G . . NT END=160105223;NT GT ./. 1 160105393 . G . . NT END=160105628;NT GT ./. 1 160105784 . G . . NT END=160106036;NT GT ./. 1 160106161 . G . . NT END=160106359;NT GT ./. 1 160106506 . G . . NT END=160106690;NT GT ./. 1 160106822 . G . . NT END=160109429;NT GT ./. 1 160109532 . G . . NT END=160109682;NT GT ./. 1 160109775 . G . . NT END=160111083;NT GT ./. 1 160111113 . C . . NT END=160121830;NT GT ./. 1 160121488 rs2369476 G T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7336,T/0.2664;Gene=ATP1A4/NM_144699.3/1;CC=c.-343G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:116:13.48:13.48:0.00:1.00:1.00:0.00:60:46.0:0:0:26:121:15:NM_144699.3(ATP1A4) c.-343G>T,NM_144699.3(ATP1A4) c.-343G>T:0.26,0.26:NOT_FOUND,NOT_FOUND 1 160121746 rs746362 C T 300 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.7296,T/0.2704;Gene=ATP1A4/NM_144699.3/1;CC=c.-85C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:81:75:0:0:1,80:5,2619:0.03,299.54:0.03,226.53:0.00,73.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:126.0,41.8:0,0:0,0:103,44:9,105:0,21:NM_144699.3(ATP1A4) c.-85C>T,NM_144699.3(ATP1A4) c.-85C>T:0.27,0.27:NOT_FOUND,NOT_FOUND 1 160121978 . G . . NT END=160122954;NT GT ./. 1 160122119 rs35726220 TA T 19 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=11;PC=0.967;Gene=ATP1A4/NM_144699.3/1;CC=c.147+157delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,TA,I,T:27:2:2:8:1,17,2,7:11,423,62,252:0.08,0.00,4.32,18.82:-0.02,0.00,-0.03,1.41:0.09,0.00,4.35,17.41:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.53:0.00,0.00,0.00,1.00:60,60,60,60:21.0,22.8,22.5,20.0:0,0,0,1:0,0,0,0:60,110,102,92:90,33,48,57:0,35,22,23:-,NM_144699.3(ATP1A4) c.147+143delA:-,NOT_FOUND:-,NOT_FOUND 1 160122826 rs11265335 G A 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.728,A/0.272;PC=0.001;Gene=ATP1A4/NM_144699.3/1;CC=c.148-129G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:336:38.82:38.82:0.00:1.00:1.00:0.00:60:36.4:0:0:50:101:16:NM_144699.3(ATP1A4) c.148-129G>A,NM_144699.3(ATP1A4) c.148-129G>A:0.27,0.27:NOT_FOUND,NOT_FOUND 1 160123019 . g . . NT END=160124834;NT GT ./. 1 160125039 . G . . NT END=160125834;NT GT ./. 1 160125949 . G . . NT END=160128791;NT GT ./. 1 160126138 rs927203 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4255,T/0.5745;Gene=ATP1A4/NM_144699.3/1;CC=c.525+190C>T;VC=Intron;DM=ATP1A4/E1-E2_ATPase;DM=ATP1A4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:146:16.95:0.00:16.95:1.00:0.00:1.00:60:83.4:0:0:66:77:9:NM_144699.3(ATP1A4) c.525+190C>T,NM_144699.3(ATP1A4) c.525+190C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 1 160128671 rs4656888 G A 51 nt VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.6593,A/0.3407;PC=0.001;Gene=ATP1A4/NM_144699.3/1;CC=c.526-121G>A;VC=Intron;DM=ATP1A4/E1-E2_ATPase;DM=ATP1A4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:29:0:0:17,12:513,364:50.86,0.00:47.36,0.00:3.50,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:52.0,4.7:0,0:0,0:43,40:108,111:19,19:NM_144699.3(ATP1A4) c.526-121G>A,-:0.39,-:NOT_FOUND,- 1 160128927 . G . . NT END=160129198;NT GT ./. 1 160128994 rs10908764 C T 294 nt VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.1312,T/0.8688;PC=0.009;Gene=ATP1A4/NM_144699.3/1;CC=c.660+68C>T;VC=Intron;DM=ATP1A4/E1-E2_ATPase;DM=ATP1A4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:78:25:0:0:78:2572:294.32:65.99:228.33:1.00:1.00:1.00:60:39.6:0:0:92:58:35:NM_144699.3(ATP1A4) c.660+68C>T,NM_144699.3(ATP1A4) c.660+68C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 1 160129317 . G . . NT END=160133945;NT GT ./. 1 160129495 rs7551983 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4433,A/0.5567;Gene=ATP1A4/NM_144699.3/1;CC=c.778+179G>A;VC=Intron;DM=ATP1A4/E1-E2_ATPase;DM=ATP1A4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,G:11:0:0:0:4,7:111,236:9.87,0.00:0.00,0.00:9.87,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:59.5,3.3:0,0:0,0:82,124:68,27:27,18:NM_144699.3(ATP1A4) c.778+179G>A,-:0.58,-:NOT_FOUND,- 1 160134205 rs11265338 C T 117 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.4712,T/0.5288;PC=0.990;Gene=ATP1A4/NM_144699.3/1;CC=c.1038C>T;ProtCh=p.A346=;VC=Silent;DM=ATP1A4/E1-E2_ATPase;DM=ATP1A4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:36:0:0:51,40:1666,1248:0.00,116.80:0.00,27.75:0.00,89.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,39.7:0,0:0,0:85,94:64,50:39,25:-,NM_144699.3(ATP1A4) c.1038C>T (p.(=)):-,0.57:-,0.550515 1 160134215 . G . . NT END=160136317;NT GT ./. 1 160136208 rs10797062 G A 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.3393,A/0.6607;PC=0.138;Gene=ATP1A4/NM_144699.3/1;CC=c.1048-110G>A;VC=Intron;DM=ATP1A4/E1-E2_ATPase;DM=ATP1A4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:49:0:0:25,24:777,809:74.79,0.00:74.79,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.5,6.5:0,0:0,0:56,42:95,108:33,23:NM_144699.3(ATP1A4) c.1048-110G>A,-:0.65,-:NOT_FOUND,- 1 160136350 rs7529215 G A 262 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=191;DB;DBA=NA;PAF=G/0.5317,A/0.4683;Gene=ATP1A4/NM_144699.3/1;CC=c.1080G>A;ProtCh=p.A360=;VC=Silent;DM=ATP1A4/E1-E2_ATPase;DM=ATP1A4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:191:151:0:0:87,1,103:2776,11,3293:262.27,-0.16,0.00:162.73,-0.07,0.00:99.54,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.5,74.0,4.2:0,0,0:0,0,0:62,68,53:80,82,91:31,0,27:NM_144699.3(ATP1A4) c.1080G>A (p.(=)),-:0.47,-:0.487621,- 1 160136517 . G . . NT END=160136757;NT GT ./. 1 160136868 . G . . NT END=160137067;NT GT ./. 1 160137220 . G . . NT END=160141015;NT GT ./. 1 160137300 rs4656889 A C 45 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4225,C/0.5775;PC=0.047;Gene=ATP1A4/NM_144699.3/1;CC=c.1491+98A>C;VC=Intron;DM=ATP1A4/Cation_ATPase;DM=ATP1A4/Cation_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:29:9:0:0:14,15:467,466:0.00,44.99:0.00,6.06:0.00,38.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,47.5:0,0:0,0:110,104:39,47:13,26:-,NM_144699.3(ATP1A4) c.1491+98A>C:-,0.58:-,NOT_FOUND 1 160140825 rs1186695 G A 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.00639,A/0.9936;NP=933;Gene=ATP1A4/NM_144699.3/1;CC=c.1492-216G>A;VC=Intron;DM=ATP1A4/Cation_ATPase;DM=ATP1A4/Cation_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:148:17.17:17.17:0.00:1.00:1.00:0.00:60:61.0:0:0:64:87:49:NM_144699.3(ATP1A4) c.1492-216G>A,NM_144699.3(ATP1A4) c.1492-216G>A:1,1:NOT_FOUND,NOT_FOUND 1 160140886 rs1202164 T C 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.001997,C/0.998;Gene=ATP1A4/NM_144699.3/1;CC=c.1492-155T>C;VC=Intron;DM=ATP1A4/Cation_ATPase;DM=ATP1A4/Cation_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:332:37.97:37.97:0.00:1.00:1.00:0.00:60:74.4:0:0:25:125:16:NM_144699.3(ATP1A4) c.1492-155T>C,NM_144699.3(ATP1A4) c.1492-155T>C:1,1:NOT_FOUND,NOT_FOUND 1 160140998 rs1209804 G A 133 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4369,A/0.5631;Gene=ATP1A4/NM_144699.3/1;CC=c.1492-43G>A;VC=Intron;DM=ATP1A4/Cation_ATPase;DM=ATP1A4/Cation_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:35:0:0:38:1149:132.84:104.22:28.62:1.00:1.00:1.00:60:45.1:0:0:45:104:21:NM_144699.3(ATP1A4) c.1492-43G>A,NM_144699.3(ATP1A4) c.1492-43G>A:0.58,0.58:0.457481,0.457481 1 160141196 rs625549 C T 256 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.006989,T/0.993;NP=3468;PC=0.835;Gene=ATP1A4/NM_144699.3/1;CC=c.1647C>T;ProtCh=p.Y549=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:50:0:0:70:2228:256.06:130.67:125.39:1.00:1.00:1.00:60:47.4:0:0:89:57:32:NM_144699.3(ATP1A4) c.1647C>T (p.(=)),NM_144699.3(ATP1A4) c.1647C>T (p.(=)):0.99,0.99:0.991927,0.991927 1 160141231 . G . . NT END=160141374;NT GT ./. 1 160141285 rs669162 C T 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.7194,T/0.2806;Gene=ATP1A4/NM_144699.3/1;CC=c.1681+55C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:35:0:0:26,30:785,1012:0.00,98.72:0.00,54.82:0.00,43.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.6,91.5:0,0:0,0:80,54:70,96:53,42:-,NM_144699.3(ATP1A4) c.1681+55C>T:-,0.25:-,NOT_FOUND 1 160141286 rs625129 C G 97 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4808,G/0.5192;Gene=ATP1A4/NM_144699.3/1;CC=c.1681+56C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:55:35:0:0:24,31:723,989:0.00,97.22:0.00,52.52:0.00,44.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,89.8:0,0:0,0:85,48:66,103:48,37:-,NM_144699.3(ATP1A4) c.1681+56C>G:-,0.49:-,NOT_FOUND 1 160141548 . G . . NT END=160143370;NT GT ./. 1 160141636 rs1891265 C T 54 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.5357,T/0.4643;Gene=ATP1A4/NM_144699.3/1;CC=c.1854+89C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:4:0:0:17,18:553,564:0.00,54.44:0.00,10.77:0.00,43.67:0.00,1.00:0.00,0.95:0.00,1.00:60,60:7.8,36.3:0,0:0,0:104,118:47,32:27,22:-,NM_144699.3(ATP1A4) c.1854+89C>T:-,0.44:-,NOT_FOUND 1 160143508 . G . . NT END=160143900;NT GT ./. 1 160144052 . G . . NT END=160144368;NT GT ./. 1 160144538 . G . . NT END=160145881;NT GT ./. 1 160145688 rs1884996 C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1979,G/0.8021;PC=0.175;Gene=ATP1A4/NM_144699.3/1;CC=c.2312-194C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,G:13:13:0:0:9,4:293,115:0.00,9.91:0.00,9.91:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,60:10.8,50.5:0,0:0,0:54,82:97,67:51,22:-,NM_144699.3(ATP1A4) c.2312-194C>G:-,0.79:-,NOT_FOUND 1 160146037 . G . . NT END=160146268;NT GT ./. 1 160146393 . G . . NT END=160147200;NT GT ./. 1 160146494 rs16831514 C G 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.9413,G/0.05871;Gene=ATP1A4/NM_144699.3/1;CC=c.2590+102C>G;VC=Intron;DM=ATP1A4/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:35:11:0:0:17,17,1:561,551,10:0.00,52.98,0.03:0.00,9.54,-0.05:0.00,43.45,0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.6,36.2,98.0:0,0,0:0,0,0:111,118,7:40,33,143:31,26,0:-,NM_144699.3(ATP1A4) c.2590+102C>G:-,0.04:-,NOT_FOUND 1 160147455 . G . . NT END=160151473;NT GT ./. 1 160147502 rs731852 T G 109 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.2135,G/0.7865;Gene=ATP1A4/NM_144699.3/1;CC=c.2736+48T>G;VC=Intron;Gene=ATP1A4/NM_001001734.1/0;CC=c.144+48T>G;VC=Intron;DM=ATP1A4/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:67:32:0:0:1,35,31:33,1118,1022:1.75,108.69,0.00:-0.08,23.47,0.00:1.83,85.22,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:64.0,35.5,13.9:0,0,0:0,0,0:106,110,89:45,40,61:0,15,28:NM_144699.3(ATP1A4) c.2736+48T>G,-:0.78,-:0.708673,- 1 160151450 rs7519748 T C 89 nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.1945,C/0.8055;Gene=ATP1A4/NM_144699.3/1;CC=c.2737-24T>C;VC=Intron;Gene=ATP1A4/NM_001001734.1/0;CC=c.145-24T>C;VC=Intron;DM=ATP1A4/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:53:0:0:27,34:938,1022:88.56,0.00:61.36,0.00:27.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,10.5:0,0:0,0:41,67:108,81:23,25:NM_144699.3(ATP1A4) c.2737-24T>C,-:0.8,-:0.737583,- 1 160151605 . G . . NT END=160151719;NT GT ./. 1 160151624 rs36097870 G GC 127 nt VT=INS;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.3165,GC/0.6835;NP=2912;Gene=ATP1A4/NM_144699.3/1;CC=c.2867+23dupC;VC=Intron;Gene=ATP1A4/NM_001001734.1/0;CC=c.275+23dupC;VC=Intron;DM=ATP1A4/Cation_ATPase_C;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:98:61:43:0:55,43:1812,1355:0.00,126.85:0.00,51.98:0.00,74.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,6.6:1,0:0,0:81,89:68,61:32,30:-,NM_144699.3(ATP1A4) c.2867+20_2867+21insC:-,0.68:-,0.58746 1 160151822 . G . . NT END=160156065;NT GT ./. 1 160156158 . G . . NT END=160156460;NT GT ./. 1 160156490 . A . . NT END=160160541;NT GT ./. 1 160160821 . G . . NT END=160162591;NT GT ./. 1 160162677 . G . . NT END=160163536;NT GT ./. 1 160162911 rs61803844 G A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8155,A/0.1845;Gene=CASQ1/NM_001231.4/1;CC=c.364+235G>A;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:6:0:0:0:4,2:133,63:13.55,0.00:0.00,0.00:13.55,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:46.5,67.0:0,0:0,0:54,85:96,65:30,39:NM_001231.4(CASQ1) c.364+235G>A,-:0.16,-:NOT_FOUND,- 1 160163446 rs3747621 C T 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5174,T/0.4826;Gene=CASQ1/NM_001231.4/1;CC=c.365-91C>T;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,T:17:17:0:0:5,12:159,367:0.00,37.90:0.00,37.90:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:29.2,68.2:0,0:0,0:16,31:134,119:9,23:-,NM_001231.4(CASQ1) c.365-91C>T:-,0.49:-,NOT_FOUND 1 160163509 rs3747623 C T 54 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.6961,T/0.3039;PC=0.023;Gene=CASQ1/NM_001231.4/1;CC=c.365-28C>T;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:27:0:0:13,16:389,548:0.00,53.78:0.00,38.13:0.00,15.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,57.8:0,0:0,0:61,67:90,83:33,22:-,NM_001231.4(CASQ1) c.365-28C>T:-,0.34:-,0.29002 1 160163638 . G . . NT END=160164801;NT GT ./. 1 160163815 rs116123807 C G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6951,G/0.3049;NP=605;PC=0.020;Gene=CASQ1/NM_001231.4/1;CC=c.465+178C>G;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,G:11:3:0:0:5,6:131,172:0.00,16.77:0.00,4.53:0.00,12.24:0.00,0.98:0.00,0.91:0.00,1.00:60,60:30.2,86.7:0,0:0,0:131,122:16,28:17,11:-,NM_001231.4(CASQ1) c.465+178C>G:-,NOT_FOUND:-,NOT_FOUND 1 160163816 rs34277881 T G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6945,G/0.3055;PC=0.003;Gene=CASQ1/NM_001231.4/1;CC=c.465+179T>G;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:G,T:10:3:0:0:6,4:191,87:19.07,0.00:4.78,0.00:14.28,0.00:0.99,0.00:0.94,0.00:1.00,0.00:60,60:86.7,37.2:0,0:0,0:123,83:27,59:11,53:NM_001231.4(CASQ1) c.465+179T>G,-:0.33,-:NOT_FOUND,- 1 160164668 rs1186693 T C 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.02196,C/0.978;PC=0.058;Gene=CASQ1/NM_001231.4/1;CC=c.466-134T>C;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:15:0:0:15:419:48.96:48.96:0.00:1.00:1.00:0.00:60:53.8:0:0:57:94:35:NM_001231.4(CASQ1) c.466-134T>C,NM_001231.4(CASQ1) c.466-134T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 160164914 . G . . NT END=160165250;NT GT ./. 1 160165095 rs2275703 A C 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.6849,C/0.3151;Gene=CASQ1/NM_001231.4/1;CC=c.578-156A>C;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:13:0:0:9,10:277,292:0.00,28.23:0.00,17.13:0.00,11.10:0.00,1.00:0.00,1.00:0.00,0.98:60,60:1.3,73.1:0,0:0,0:124,53:26,97:8,37:-,NM_001231.4(CASQ1) c.578-156A>C:-,0.34:-,NOT_FOUND 1 160165325 . G . . NT END=160165686;NT GT ./. 1 160165451 rs10908769 C T 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6494,T/0.3506;Gene=CASQ1/NM_001231.4/1;CC=c.651+127C>T;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I:20:3:1:0:9,10,1:285,319,21:0.00,30.95,1.09:0.00,9.53,0.00:0.00,21.42,1.09:0.00,1.00,0.00:0.00,0.89,0.00:0.00,1.00,0.00:60,60,60:49.7,49.0,9.0:0,0,0:0,0,0:105,110,85:45,40,64:27,31,0:-,NM_001231.4(CASQ1) c.651+127C>T:-,0.37:-,NOT_FOUND 1 160165818 . G . . NT END=160167358;NT GT ./. 1 160166183 rs665824 T G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.008387,G/0.9916;NP=79;Gene=CASQ1/NM_001231.4/1;CC=c.782+366T>G;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:60:40.5:0:0:94:56:13:NM_001231.4(CASQ1) c.782+366T>G,NM_001231.4(CASQ1) c.782+366T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 160167405 . G . . NT END=160168466;NT GT ./. 1 160168368 rs822450 G A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6743,A/0.3257;PC=0.055;Gene=CASQ1/NM_001231.4/1;CC=c.829-99G>A;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:12:12:0:0:8,4:247,138:25.20,0.00:25.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.1,22.2:0,0:0,0:29,68:121,83:19,14:NM_001231.4(CASQ1) c.829-99G>A,-:0.37,-:NOT_FOUND,- 1 160168522 . G . . NT END=160168742;NT GT ./. 1 160168844 . G . . NT END=160169640;NT GT ./. 1 160169473 rs959166 T C 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.009984,C/0.99;PC=0.001;Gene=CASQ1/NM_001231.4/1;CC=c.985-168T>C;VC=Intron;DM=CASQ1/Calsequestrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:8:0:0:8:224:26.15:26.15:0.00:1.00:1.00:0.00:60:32.9:0:0:50:100:40:NM_001231.4(CASQ1) c.985-168T>C,NM_001231.4(CASQ1) c.985-168T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 160169716 . G . . NT END=160171034;NT GT ./. 1 160170868 rs371850710 CTAACCCA C 58 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CTAACCCA/0.01577,C/0.9842;DB;DBA=NA;PAF=CTAACCCA/0.01577,C/0.9842;NP=976;Gene=CASQ1/NM_001231.4/1;CC=c.1060-157_1060-151delACCCATA;VC=Intron;DM=CASQ1/Calsequestrin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:G,C:17:17:0:16:1,16:13,512:0.63,58.40:0.63,58.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:29.0,8.4:0,0:0,0:137,71:10,79:0,27:NM_001231.4(CASQ1) c.1060-166_1060-160delTAACCCA,NM_001231.4(CASQ1) c.1060-166_1060-160delTAACCCA:0.98,0.98:NOT_FOUND,NOT_FOUND 1 160171167 . T . . NT END=160178394;NT GT ./. 1 160178356 rs667306 A G 214 nt VT=SNV;PN=G;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.009585,G/0.9904;PC=0.033;Gene=LOC729867/NR_123725.1/0;VC=NonCoding;Gene=PEA15/NM_001297576.1/1;CC=c.-39A>G;VC=5UTR;Gene=PEA15/NM_001297577.1/0;CC=c.-3+1329A>G;VC=Intron;Gene=PEA15/NM_001297578.1/0;CC=c.-2-2977A>G;VC=Intron;Gene=PEA15/NM_003768.4/0;CC=c.-2-2977A>G;VC=Intron;Gene=PEA15/NR_123724.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G:60:50:0:0:60:1859:214.39:137.74:76.65:1.00:1.00:1.00:60:41.9:0:0:49:99:28:NM_003768.3(PEA15) c.-2-2977A>G,NM_003768.3(PEA15) c.-2-2977A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 160178456 . G . . NT END=160181065;NT GT ./. 1 160180906 rs680083 G A 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6703,A/0.3297;PC=0.059;Gene=PEA15/NM_001297576.1/1;CC=c.62-427G>A;VC=Intron;Gene=PEA15/NM_001297577.1/0;CC=c.-2-427G>A;VC=Intron;Gene=PEA15/NM_001297578.1/0;CC=c.-2-427G>A;VC=Intron;Gene=PEA15/NM_003768.4/0;CC=c.-2-427G>A;VC=Intron;Gene=PEA15/NR_123724.1/0;VC=NonCoding;DM=PEA15/DED GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:11,6:307,207:31.07,0.00:31.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.7,0.0:0,0:0,0:42,26:99,124:36,22:NM_003768.3(PEA15) c.-2-427G>A,-:0.37,-:NOT_FOUND,- 1 160181105 . G . . NT END=160181332;NT GT ./. 1 160181507 . G . . NT END=160182899;NT GT ./. 1 160183056 . G . . NT END=160183211;NT GT ./. 1 160183277 . G . . NT END=160187381;NT GT ./. 1 160187173 rs11265357 A G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.03694,G/0.9631;PC=0.017;Gene=DCAF8/NR_028103.1/0;VC=NonCoding;Gene=DCAF8/NR_028104.1/0;VC=NonCoding;Gene=DCAF8/NM_015726.3/1;CC=c.*209T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:54.6:0:0:19:132:4:NM_015726.3(DCAF8) c.=,NM_015726.3(DCAF8) c.=:0.95,0.95:NOT_FOUND,NOT_FOUND 1 160187499 . C . . NT END=160188113;NT GT ./. 1 160188231 . C . . NT END=160188638;NT GT ./. 1 160188759 . C . . NT END=160192440;NT GT ./. 1 160192572 . C . . NT END=160194231;NT GT ./. 1 160194340 . C . . NT END=160194851;NT GT ./. 1 160194910 . C . . NT END=160195380;NT GT ./. 1 160195454 . C . . NT END=160201086;NT GT ./. 1 160201198 . C . . NT END=160206924;NT GT ./. 1 160207020 . C . . NT END=160208396;NT GT ./. 1 160208538 . C . . NT END=160209011;NT GT ./. 1 160209027 . g . . NT END=160209211;NT GT ./. 1 160210161 . C . . NT END=160213749;NT GT ./. 1 160213799 . C . . NT END=160249340;NT GT ./. 1 160214027 rs2275700 T C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3293,C/0.6707;PC=0.004;Gene=DCAF8/NR_028103.1/0;VC=NonCoding;Gene=DCAF8/NR_028104.1/0;VC=NonCoding;Gene=DCAF8/NM_015726.3/1;CC=c.-26-203A>G;VC=Intron;Gene=DCAF8/NR_028106.1/0;VC=NonCoding;Gene=DCAF8/NR_028105.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,T:7:0:0:0:4,3:119,86:11.71,0.00:0.00,0.00:11.71,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:32.0,3.3:0,0:0,0:74,71:76,80:17,24:NM_015726.3(DCAF8) c.-26-203A>G,-:0.63,-:NOT_FOUND,- 1 160236470 rs11265366 T A 67 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.3297,A/0.6703;PC=0.944 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:36:21:0:0:22,14:665,398:66.60,0.00:33.54,0.00:33.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:31.0,7.2:0,0:0,0:48,67:95,83:25,38:NM_015726.3(DCAF8) c.-212-u4120A>T,-:0.6,-:NOT_FOUND,- 1 160237157 rs59190910 CTT C 8 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CTT/0.495,C/0.505;NP=20;PC=0.001;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:CTT,I,C:6:0:1:6:2,1,3:71,31,156:0.00,2.52,8.15:0.00,0.00,0.00:0.00,2.52,8.15:0.00,0.00,0.64:0.00,0.00,0.00:0.00,0.00,0.64:60,60,60:0.0,12.0,51.7:0,0,3:0,0,0:61,125,77:90,25,72:53,0,15:-,NM_015726.3(DCAF8) c.-212-u4809_-212-u4808delAA:-,NOT_FOUND:-,NOT_FOUND 1 160249425 . C . . NT END=160249590;NT GT ./. 1 160249636 . C . . NT END=160249859;NT GT ./. 1 160250037 . C . . NT END=160251828;NT GT ./. 1 160251792 rs2795067 A G 71 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.3297,G/0.6703;Gene=PEX19/NM_001193644.1/0;CC=c.594+37T>C;VC=Intron;Gene=PEX19/NM_002857.3/1;CC=c.594+37T>C;VC=Intron;Gene=PEX19/NR_036492.1/0;VC=NonCoding;Gene=PEX19/NR_036493.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:42:0:0:24,22:748,740:0.00,70.69:0.00,50.74:0.00,19.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,35.1:0,0:0,0:50,51:95,93:27,18:-,NM_002857.3(PEX19) c.594+37T>C:-,0.63:-,0.655467 1 160251991 . C . . NT END=160252206;NT GT ./. 1 160252293 . C . . NT END=160252733;NT GT ./. 1 160252900 . C . . NT END=160253319;NT GT ./. 1 160253430 . C . . NT END=160254844;NT GT ./. 1 160254915 . C . . NT END=160259946;NT GT ./. 1 160260007 . C . . NT END=160260281;NT GT ./. 1 160260233 rs2298104 T C 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.5775,C/0.4225;Gene=COPA/NM_001098398.1/1;CC=c.3642+49A>G;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.3615+49A>G;VC=Intron;DM=COPA/COPI_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:29:0:0:26,17:853,523:85.17,0.00:40.20,0.00:44.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,8.2:0,0:0,0:57,37:93,114:42,28:NM_001098398.1(COPA) c.3642+49A>G,-:0.42,-:0.418576,- 1 160260477 . C . . NT END=160261124;NT GT ./. 1 160261287 . C . . NT END=160261608;NT GT ./. 1 160261720 . C . . NT END=160261801;NT GT ./. 1 160261989 . C . . NT END=160262273;NT GT ./. 1 160262411 . C . . NT END=160262955;NT GT ./. 1 160262678 rs2369474 T C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3309,C/0.6691;Gene=COPA/NM_001098398.1/1;CC=c.2851-268A>G;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.2824-268A>G;VC=Intron;DM=COPA/COPI_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:C,T:4:2:0:0:3,1:94,36:9.85,0.00:2.75,0.00:7.10,0.00:0.85,0.00:0.95,0.00:0.95,0.00:60,60:96.0,0.0:0,0:0,0:78,113:69,38:7,0:NM_001098398.1(COPA) c.2851-268A>G,-:0.62,-:NOT_FOUND,- 1 160263025 . C . . NT END=160263175;NT GT ./. 1 160263124 rs1317944 C T 134 nt VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.3309,T/0.6691;Gene=COPA/NM_001098398.1/1;CC=c.2781+52G>A;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.2754+52G>A;VC=Intron;DM=COPA/COPI_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:66:40:0:0:1,24,1,40:10,825,7,1329:-0.01,0.00,-0.09,133.57:-0.06,0.00,0.01,80.85:0.04,0.00,-0.10,52.72:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:58.0,3.2,129.0,42.1:0,0,0,0:0,0,0,0:25,71,130,68:126,75,20,82:0,39,0,39:-,NM_001098398.1(COPA) c.2781+52G>A:-,0.62:-,0.64466 1 160263254 . C . . NT END=160264273;NT GT ./. 1 160263286 . A AT 9 idl,rn VT=INS;SST=Single;DP=40;NP=2;PC=0.007;Gene=COPA/NM_001098398.1/1;CC=c.2704-34_2704-33insA;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.2677-34_2677-33insA;VC=Intron;DM=COPA/COPI_C;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,T,AT,D:39:17:4:4:31,1,4,3:905,11,124,133:0.00,-0.07,8.90,6.91:0.00,-0.10,3.49,-0.37:0.00,0.03,5.41,7.28:0.00,0.00,0.59,0.00:0.00,0.00,0.73,0.00:0.00,0.00,0.91,0.00:60,60,60,60:17.8,150.0,18.2,2.0:0,0,0,1:0,0,0,0:112,133,107,45:36,18,40,105:16,0,9,30:-,NM_001098398.1(COPA) c.2704-34_2704-33insA:-,NOT_FOUND:-,NOT_FOUND 1 160264384 . C . . NT END=160264557;NT GT ./. 1 160264648 . C . . NT END=160265525;NT GT ./. 1 160265515 rs3789042 T C 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.5469,C/0.4531;Gene=COPA/NM_001098398.1/1;CC=c.2503+11A>G;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.2476+11A>G;VC=Intron;DM=COPA/COPI_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:57:48:0:0:27,1,29:871,9,939:83.10,-0.10,0.00:64.86,-0.16,0.00:18.24,0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.1,40.0,2.4:0,0,0:0,0,0:46,31,42:103,120,103:27,0,20:NM_001098398.1(COPA) c.2503+11A>G,-:0.45,-:0.453099,- 1 160265650 . C . . NT END=160265850;NT GT ./. 1 160265940 . C . . NT END=160267132;NT GT ./. 1 160267229 . C . . NT END=160267345;NT GT ./. 1 160267536 . C . . NT END=160268634;NT GT ./. 1 160268782 . C . . NT END=160268891;NT GT ./. 1 160268834 . GA G 15 idl,rn VT=DEL;SST=Single;DP=85;NP=74;PC=0.025;Gene=COPA/NM_001098398.1/1;CC=c.1858-54delT;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.1831-54delT;VC=Intron;DM=COPA/Coatomer_WDAD;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,GA,I,G:85:54:6:8:1,71,6,7:12,2273,191,218:-0.19,0.00,12.81,14.91:-0.21,0.00,4.70,4.50:0.02,0.00,8.11,10.41:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.94:60,60,60,60:12.0,9.3,7.2,3.6:0,0,0,0:0,0,0,0:0,76,92,82:151,72,59,41:0,46,25,40:-,NM_001098398.1(COPA) c.1858-54delT:-,NOT_FOUND:-,NOT_FOUND 1 160269055 . C . . NT END=160275222;NT GT ./. 1 160275389 . C . . NT END=160275477;NT GT ./. 1 160275434 rs2066320 A G 339 nt VT=SNV;PN=G;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.02196,G/0.978;PC=0.006;Gene=COPA/NM_001098398.1/1;CC=c.1528+44T>C;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.1528+44T>C;VC=Intron;DM=COPA/Coatomer_WDAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:54:0:0:92:2954:339.14:143.49:195.65:1.00:1.00:1.00:60:45.3:0:0:79:71:31:NM_001098398.1(COPA) c.1528+44T>C,NM_001098398.1(COPA) c.1528+44T>C:0.98,0.98:0.963248,0.963248 1 160275564 . C . . NT END=160276143;NT GT ./. 1 160276284 . C . . NT END=160276952;NT GT ./. 1 160277036 . C . . NT END=160278890;NT GT ./. 1 160278967 . C . . NT END=160279981;NT GT ./. 1 160280049 . C . . NT END=160281657;NT GT ./. 1 160281809 . C . . NT END=160282874;NT GT ./. 1 160282958 . C . . NT END=160283779;NT GT ./. 1 160283026 rs151337698 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.9974,G/0.002596;NP=28;PC=0.001;Gene=COPA/NM_001098398.1/1;CC=c.843-69T>C;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.843-69T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:11:0:0:15,10:468,324:0.00,29.87:0.00,8.60:0.00,21.27:0.00,1.00:0.00,0.99:0.00,1.00:60,60:9.1,38.2:0,0:0,0:113,101:38,49:29,9:-,NM_001098398.1(COPA) c.843-69T>C:-,0.0037:-,NOT_FOUND 1 160283209 rs397688063 AT A 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AT/0.05931,A/0.9407;DB;DBA=NA;PAF=AT/0.05931,A/0.9407;NP=69;PC=0.002;Gene=COPA/NM_001098398.1/1;CC=c.843-253delA;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.843-253delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AT,A:5:0:0:4:2,3:64,129:0.00,9.43:0.00,0.00:0.00,9.43:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,11.0:0,1:0,0:144,121:6,29:0,9:-,NM_001098398.1(COPA) c.843-253delA:-,NOT_FOUND:-,NOT_FOUND 1 160283916 . C . . NT END=160293220;NT GT ./. 1 160293321 . C . . NT END=160295332;NT GT ./. 1 160295443 . C . . NT END=160302237;NT GT ./. 1 160302348 . C . . NT END=160303392;NT GT ./. 1 160302444 rs4656897 G A 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.3317,A/0.6683;Gene=COPA/NM_001098398.1/1;CC=c.387-97C>T;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.387-97C>T;VC=Intron;DM=COPA/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:0:0:0:10,14:334,473:31.09,0.00:0.00,0.00:31.09,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.9,19.0:0,0:0,0:105,112:46,38:25,29:NM_001098398.1(COPA) c.387-97C>T,-:0.62,-:NOT_FOUND,- 1 160303416 rs1802778 G A 80 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.3373,A/0.6627;PC=1.000;Gene=COPA/NM_001098398.1/1;CC=c.363C>T;ProtCh=p.N121=;VC=Silent;Gene=COPA/NM_004371.3/0;CC=c.363C>T;ProtCh=p.N121=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:35:0:0:27,18:802,593:79.83,0.00:40.48,0.00:39.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,14.3:0,0:0,0:55,35:93,110:20,20:NM_001098398.1(COPA) c.363C>T (p.(=)),-:0.62,-:0.644702,- 1 160303470 . C . . NT END=160305031;NT GT ./. 1 160305113 . C . . NT END=160309698;NT GT ./. 1 160309509 rs1886420 T A 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3327,A/0.6673;Gene=COPA/NM_001098398.1/1;CC=c.228+190A>T;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.228+190A>T;VC=Intron;DM=COPA/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,T:4:4:0:0:3,1:102,22:10.66,0.00:10.66,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:45.3,43.0:0,0:0,0:42,18:109,133:13,0:NM_001098398.1(COPA) c.228+190A>T,-:0.62,-:NOT_FOUND,- 1 160309664 rs1886419 T G 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3327,G/0.6673;Gene=COPA/NM_001098398.1/1;CC=c.228+35A>C;VC=Intron;Gene=COPA/NM_004371.3/0;CC=c.228+35A>C;VC=Intron;DM=COPA/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:26:0:0:14,12:483,369:47.19,0.00:39.74,0.00:7.45,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:44.6,13.5:0,0:0,0:59,25:91,116:28,18:NM_001098398.1(COPA) c.228+35A>C,-:0.62,-:0.655313,- 1 160309773 . C . . NT END=160309970;NT GT ./. 1 160310085 . C . . NT END=160312920;NT GT ./. 1 160312961 . C . . NT END=160313186;NT GT ./. 1 160313272 . G . . NT END=160314265;NT GT ./. 1 160314405 . G . . NT END=160314511;NT GT ./. 1 160314617 . G . . NT END=160318788;NT GT ./. 1 160318913 . G . . NT END=160319338;NT GT ./. 1 160318940 rs6669689 A G 89 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.4411,G/0.5589;Gene=NCSTN/NM_001290184.1/0;CC=c.254+28A>G;VC=Intron;Gene=NCSTN/NM_001290186.1/0;CC=c.314+28A>G;VC=Intron;Gene=NCSTN/NM_015331.2/1;CC=c.314+28A>G;VC=Intron;DM=NCSTN/Nicastrin;DM=NCSTN/Nicastrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:16:0:0:18,27:572,893:0.00,89.03:0.00,15.10:0.00,73.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.1,39.4:0,0:0,0:107,100:44,47:20,22:-,NM_015331.2(NCSTN) c.314+28A>G:-,0.52:-,0.524988 1 160319055 rs12239946 T C 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.8504,C/0.1496;Gene=NCSTN/NM_001290184.1/0;CC=c.254+143T>C;VC=Intron;Gene=NCSTN/NM_001290186.1/0;CC=c.314+143T>C;VC=Intron;Gene=NCSTN/NM_015331.2/1;CC=c.314+143T>C;VC=Intron;DM=NCSTN/Nicastrin;DM=NCSTN/Nicastrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:9:0:0:13,8:434,264:43.54,0.00:25.44,0.00:18.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.2,29.6:0,0:0,0:69,131:82,19:31,12:NM_015331.2(NCSTN) c.314+143T>C,-:0.17,-:NOT_FOUND,- 1 160319074 rs41266883 A T 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9275,T/0.07248;PC=0.001;Gene=NCSTN/NM_001290184.1/0;CC=c.254+162A>T;VC=Intron;Gene=NCSTN/NM_001290186.1/0;CC=c.314+162A>T;VC=Intron;Gene=NCSTN/NM_015331.2/1;CC=c.314+162A>T;VC=Intron;DM=NCSTN/Nicastrin;DM=NCSTN/Nicastrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:A,T:19:10:0:0:5,14:167,434:0.00,45.30:0.00,25.47:0.00,19.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,66.3:0,0:0,0:92,73:57,77:46,41:-,NM_015331.2(NCSTN) c.314+162A>T:-,0.08:-,NOT_FOUND 1 160319461 . G . . NT END=160319894;NT GT ./. 1 160320041 . G . . NT END=160321011;NT GT ./. 1 160320243 . C A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;Gene=NCSTN/NM_001290184.1/0;CC=c.522+203C>A;VC=Intron;Gene=NCSTN/NM_001290186.1/0;CC=c.582+203C>A;VC=Intron;Gene=NCSTN/NM_015331.2/1;CC=c.582+203C>A;VC=Intron;DM=NCSTN/Nicastrin;DM=NCSTN/Nicastrin;DM=NCSTN/Nicastrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,C:5:0:0:1:3,2:71,45:7.06,0.00:0.00,0.00:7.06,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:167.3,57.5:1,0:0,0:78,111:73,33:22,34:NM_015331.2(NCSTN) c.582+203C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 160320850 rs7540865 G T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7133,T/0.2867;Gene=NCSTN/NM_001290184.1/0;CC=c.523-162G>T;VC=Intron;Gene=NCSTN/NM_001290186.1/0;CC=c.582+810G>T;VC=Intron;Gene=NCSTN/NM_015331.2/1;CC=c.583-162G>T;VC=Intron;DM=NCSTN/Nicastrin;DM=NCSTN/Nicastrin;DM=NCSTN/Nicastrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:G,T:8:8:0:0:5,3:167,101:0.00,9.23:0.00,9.23:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:10.8,33.7:0,0:0,0:52,69:99,81:49,16:-,NM_015331.2(NCSTN) c.583-162G>T:-,0.3:-,NOT_FOUND 1 160321163 . G . . NT END=160321485;NT GT ./. 1 160321596 . G . . NT END=160321843;NT GT ./. 1 160321997 . G . . NT END=160322676;NT GT ./. 1 160322782 . G . . NT END=160322949;NT GT ./. 1 160323028 . G . . NT END=160323112;NT GT ./. 1 160323342 rs2369607 A C 116 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.6851,C/0.3149;PC=0.001;Gene=NCSTN/NM_001290184.1/0;CC=c.1119+315A>C;VC=Intron;Gene=NCSTN/NM_001290186.1/0;CC=c.765+315A>C;VC=Intron;Gene=NCSTN/NM_015331.2/1;CC=c.1179+315A>C;VC=Intron;DM=NCSTN/Nicastrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:70:36:0:0:33,37:1105,1197:0.00,116.30:0.00,43.40:0.00,72.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,69.1:0,0:0,0:71,83:72,68:32,32:-,NM_015331.2(NCSTN) c.1179+315A>C:-,0.31:-,NOT_FOUND 1 160323353 rs1124379 A G 111 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.3504,G/0.6496;Gene=NCSTN/NM_001290184.1/0;CC=c.1119+326A>G;VC=Intron;Gene=NCSTN/NM_001290186.1/0;CC=c.765+326A>G;VC=Intron;Gene=NCSTN/NM_015331.2/1;CC=c.1179+326A>G;VC=Intron;DM=NCSTN/Nicastrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:37:0:0:36,34:1162,1154:0.00,110.54:0.00,43.00:0.00,67.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,71.1:0,0:0,0:74,94:73,56:36,32:-,NM_015331.2(NCSTN) c.1179+326A>G:-,0.61:-,NOT_FOUND 1 160323511 . C . . NT END=160323907;NT GT ./. 1 160324081 . G . . NT END=160325444;NT GT ./. 1 160325548 . G . . NT END=160325652;NT GT ./. 1 160325749 . G . . NT END=160326049;NT GT ./. 1 160326138 . G . . NT END=160326389;NT GT ./. 1 160326545 . G . . NT END=160326830;NT GT ./. 1 160327044 . G . . NT END=160327938;NT GT ./. 1 160328062 . G . . NT END=160340521;NT GT ./. 1 160340924 . A . . NT END=160385627;NT GT ./. 1 160385699 . G . . NT END=160385851;NT GT ./. 1 160385973 . G . . NT END=160388791;NT GT ./. 1 160386082 rs17371401 A G 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.7915,G/0.2085;Gene=VANGL2/NM_020335.2/1;CC=c.192+110A>G;VC=Intron;DM=VANGL2/Strabismus GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:8:0:0:22,16:691,494:0.00,45.77:0.00,8.08:0.00,37.69:0.00,1.00:0.00,0.98:0.00,1.00:60,60:5.8,37.8:0,0:0,0:93,120:57,30:31,19:-,NM_020335.2(VANGL2) c.192+110A>G:-,0.19:-,NOT_FOUND 1 160389400 . G . . NT END=160390200;NT GT ./. 1 160389984 rs3737798 A G 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4071,G/0.5929;PC=0.910;Gene=VANGL2/NM_020335.2/1;CC=c.801-217A>G;VC=Intron;DM=VANGL2/Strabismus GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:324:37.60:37.60:0.00:1.00:1.00:0.00:60:46.6:0:0:74:77:30:NM_020335.2(VANGL2) c.801-217A>G,NM_020335.2(VANGL2) c.801-217A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 160390338 . G . . NT END=160390841;NT GT ./. 1 160390978 . G . . NT END=160393841;NT GT ./. 1 160393905 rs12086448 A G 562 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=149;DB;DBA=NA;PAF=A/0.4233,G/0.5767;PC=1.000;Gene=VANGL2/NM_020335.2/1;CC=c.1137A>G;ProtCh=p.K379=;VC=Silent;DM=VANGL2/Strabismus GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:149:107:0:0:148,1:4923,7:562.27,0.03:307.61,0.00:254.65,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,160.0:0,0:0,0:80,111:67,28:33,0:NM_020335.2(VANGL2) c.1137A>G (p.(=)),NM_020335.2(VANGL2) c.1137A>G (p.(=)):0.54,0.54:0.608719,0.608719 1 160394074 . G . . NT END=160394907;NT GT ./. 1 160394173 rs12087593 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.7282,G/0.2718;Gene=VANGL2/NM_020335.2/1;CC=c.1305+100A>G;VC=Intron;DM=VANGL2/Strabismus GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:19:0:0:0:11,7,1:281,244,12:0.00,22.52,0.26:0.00,0.00,0.00:0.00,22.52,0.26:0.00,0.98,0.00:0.00,0.00,0.00:0.00,0.98,0.00:60,60,60:27.4,34.9,114.0:0,0,0:0,0,0:105,83,38:46,68,113:18,28,0:-,NM_020335.2(VANGL2) c.1305+100A>G:-,0.25:-,NOT_FOUND 1 160394937 rs17380127 A C 245 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=A/0.7925,C/0.2075;PC=0.001;Gene=VANGL2/NM_020335.2/1;CC=c.1335A>C;ProtCh=p.G445=;VC=Silent;DM=VANGL2/Strabismus GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:167:141:0:0:88,79:2798,2575:0.00,244.88:0.00,166.47:0.00,78.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,59.2:0,0:0,0:58,68:90,77:31,29:-,NM_020335.2(VANGL2) c.1335A>C (p.(=)):-,0.2:-,0.251115 1 160395003 rs17380141 G A 291 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.773,A/0.227;PC=0.697;Gene=VANGL2/NM_020335.2/1;CC=c.1401G>A;ProtCh=p.P467=;VC=Silent;DM=VANGL2/Strabismus GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:196:148:0:0:91,1,104:3057,12,3252:290.62,-0.14,0.00:163.03,-0.03,0.00:127.58,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:60.7,216.0,4.2:0,0,0:0,0,0:75,19,71:73,132,78:35,0,31:NM_020335.2(VANGL2) c.1401G>A (p.(=)),-:0.21,-:0.273797,- 1 160395169 . C . . NT END=160456496;NT GT ./. 1 160395276 rs5778163 C CT 52 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4483,CT/0.5517;DB;DBA=NA;PAF=C/0.4483,CT/0.5517,CTT/.;NP=285;PC=0.974;Gene=VANGL2/NM_020335.2/1;CC=c.*118dupT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:26:6:17:0:10,16:284,553:0.00,52.11:0.00,4.11:0.00,48.01:0.00,1.00:0.00,0.99:0.00,1.00:60,60:22.3,44.6:0,1:0,0:73,78:56,39:25,20:-,NM_020335.2(VANGL2) c.*118dupT:-,NOT_FOUND:-,NOT_FOUND 1 160456572 . G . . NT END=160456893;NT GT ./. 1 160456712 rs3795329 G C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8285,C/0.1715;Gene=SLAMF6/NM_001184714.1/1;CC=c.952-168C>G;VC=Intron;Gene=SLAMF6/NM_001184715.1/0;CC=c.802-168C>G;VC=Intron;Gene=SLAMF6/NM_001184716.1/0;CC=c.619-168C>G;VC=Intron;Gene=SLAMF6/NM_052931.4/0;CC=c.949-168C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:3:0:0:8,8:204,275:19.34,0.00:1.87,0.00:17.46,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:31.0,2.5:0,0:0,0:108,85:42,66:27,46:NM_001184714.1(SLAMF6) c.952-168C>G,-:0.2,-:NOT_FOUND,- 1 160456993 . T . . NT END=160458877;NT GT ./. 1 160458782 rs3795327 A G 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.3842,G/0.6158;Gene=SLAMF6/NM_001184714.1/1;CC=c.879+96T>C;VC=Intron;Gene=SLAMF6/NM_001184715.1/0;CC=c.729+96T>C;VC=Intron;Gene=SLAMF6/NM_001184716.1/0;CC=c.546+96T>C;VC=Intron;Gene=SLAMF6/NM_052931.4/0;CC=c.876+96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:24:0:0:9,15:268,431:0.00,43.37:0.00,43.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:32.0,35.3:0,0:0,0:54,35:97,116:14,25:-,NM_001184714.1(SLAMF6) c.879+96T>C:-,0.62:-,NOT_FOUND 1 160458988 . G . . NT END=160459987;NT GT ./. 1 160459909 rs12119876 C A 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8331,A/0.1669;PC=0.010;Gene=SLAMF6/NM_001184714.1/1;CC=c.796+79G>T;VC=Intron;Gene=SLAMF6/NM_001184715.1/0;CC=c.649+79G>T;VC=Intron;Gene=SLAMF6/NM_001184716.1/0;CC=c.463+79G>T;VC=Intron;Gene=SLAMF6/NM_052931.4/0;CC=c.796+79G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:22:0:0:13,9:417,273:41.45,0.00:39.87,0.00:1.58,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:45.2,29.9:0,0:0,0:49,31:101,120:26,6:NM_001184714.1(SLAMF6) c.796+79G>T,-:0.2,-:0.180245,- 1 160460054 . T . . NT END=160460364;NT GT ./. 1 160460099 rs11265413 T A 70 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.8317,A/0.1683;Gene=SLAMF6/NM_001184714.1/1;CC=c.758-73A>T;VC=Intron;Gene=SLAMF6/NM_001184715.1/0;CC=c.611-73A>T;VC=Intron;Gene=SLAMF6/NM_001184716.1/0;CC=c.425-73A>T;VC=Intron;Gene=SLAMF6/NM_052931.4/0;CC=c.758-73A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:51:28:0:0:22,1,28:739,11,903:69.50,-0.02,0.00:27.08,0.13,0.00:42.43,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.6,36.0,7.5:0,0,0:0,0,0:82,132,94:65,17,45:41,0,23:NM_001184714.1(SLAMF6) c.758-73A>T,-:0.2,-:0.180683,- 1 160460503 . T . . NT END=160460914;NT GT ./. 1 160461206 . A . . NT END=160465850;NT GT ./. 1 160466184 . C . . NT END=160492933;NT GT ./. 1 160466356 rs3795326 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7977,G/0.2023;Gene=SLAMF6/NM_001184714.1/1;CC=c.50-173T>C;VC=Intron;Gene=SLAMF6/NM_001184715.1/0;CC=c.50-320T>C;VC=Intron;Gene=SLAMF6/NM_001184716.1/0;CC=c.50-5178T>C;VC=Intron;Gene=SLAMF6/NM_052931.4/0;CC=c.50-173T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,G:9:0:0:0:5,4:153,131:0.00,12.33:0.00,0.00:0.00,12.33:0.00,0.85:0.00,0.00:0.00,0.85:60,60:12.4,43.8:0,0:0,0:85,114:64,36:16,8:-,NM_001184714.1(SLAMF6) c.50-173T>C:-,0.24:-,NOT_FOUND 1 160493010 . A . . NT END=160518045;NT GT ./. 1 160493178 rs71579673 AT A 18 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=AT/0.5653,A/0.4347;DB;DBA=NA;PAF=AT/0.5653,A/0.4347;NP=84;PC=0.007;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:AT,I,A:16:0:1:7:9,1,6:250,33,215:0.00,2.31,18.06:0.00,0.00,0.00:0.00,2.31,18.06:0.00,0.00,0.95:0.00,0.00,0.00:0.00,0.00,0.95:60,60,70:9.8,0.0,7.5:0,0,1:0,0,0:105,93,86:46,58,65:24,0,15:-,NM_001184714.1(SLAMF6) c.-70-u127delA:-,NOT_FOUND:-,NOT_FOUND 1 160501993 rs6696595 T C 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1941,C/0.8059;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:6:0:0:8:259:29.71:16.35:13.37:1.00:1.00:1.00:60:74.2:0:0:65:86:13:chr1 g.160501992T>C (intergenic),chr1 g.160501992T>C (intergenic):0.84,0.84:NOT_FOUND,NOT_FOUND 1 160518112 . C . . NT END=160519706;NT GT ./. 1 160519593 rs150736246 G A 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9962,A/0.003794;NP=37;PC=0.005;Gene=CD84/NM_001184879.1/1;CC=c.972+114C>T;VC=Intron;Gene=CD84/NM_001184881.1/0;CC=c.*4+114C>T;VC=Intron;Gene=CD84/NM_001184882.1/0;CC=c.579+114C>T;VC=Intron;Gene=CD84/NM_003874.3/0;CC=c.921+114C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:17:17:0:0:6,11:197,335:17.78,0.00:17.88,0.00:-0.09,0.00:0.95,0.00:0.95,0.00:0.57,0.00:60,60:32.8,16.2:0,0:0,0:73,34:76,117:37,18:NM_001184879.1(CD84) c.972+114C>T,-:0.0037,-:NOT_FOUND,- 1 160519770 . C . . NT END=160520400;NT GT ./. 1 160519812 rs548796472 C CA 45 idl,nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.6773,CA/0.3223;DB;DBA=NA;PAF=C/0.6773,A/0.0003994;Gene=CD84/NM_001184879.1/1;CC=c.910-44dupT;VC=Intron;Gene=CD84/NM_001184881.1/0;CC=c.761-44dupT;VC=Intron;Gene=CD84/NM_001184882.1/0;CC=c.517-44dupT;VC=Intron;Gene=CD84/NM_003874.3/0;CC=c.859-44dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:34:19:15:0:19,15:646,476:0.00,44.62:0.00,12.01:0.00,32.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,8.0:0,15:0,0:117,72:34,79:24,29:-,NM_001184879.1(CD84) c.910-44_910-43insT:-,NOT_FOUND:-,0.369107 1 160519815 rs77924038 C CT 45 idl,nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.6779,CT/0.3221;DB;DBA=NA;PAF=C/0.6779,CCT/.,CT/0.3221;DB;DBA=NA;PAF=NA;Gene=CD84/NM_001184879.1/1;CC=c.910-47dupA;VC=Intron;Gene=CD84/NM_001184881.1/0;CC=c.761-47dupA;VC=Intron;Gene=CD84/NM_001184882.1/0;CC=c.517-47dupA;VC=Intron;Gene=CD84/NM_003874.3/0;CC=c.859-47dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:29:14:15:0:14,15:486,468:0.00,45.22:0.00,10.68:0.00,34.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,8.0:0,15:0,0:118,78:32,73:20,27:-,NM_001184879.1(CD84) c.910-47_910-46insA:-,NOT_FOUND:-,0.296462 1 160520319 rs77900769 G A 62 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9952,A/0.004792;NP=34;PC=0.014;Gene=CD84/NM_001184879.1/1;CC=c.909+409C>T;VC=Intron;Gene=CD84/NM_001184881.1/0;CC=c.761-550C>T;VC=Intron;Gene=CD84/NM_001184882.1/0;CC=c.516+409C>T;VC=Intron;Gene=CD84/NM_003874.3/0;CC=c.858+409C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:35:0:0:20,16:637,513:62.47,0.00:61.09,0.00:1.38,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:38.0,7.2:0,0:0,0:16,65:131,86:11,44:NM_001184879.1(CD84) c.909+409C>T,-:0.01,-:NOT_FOUND,- 1 160520637 . C . . NT END=160520727;NT GT ./. 1 160520826 . C . . NT END=160522494;NT GT ./. 1 160522528 . C . . NT END=160523149;NT GT ./. 1 160523288 . C . . NT END=160523684;NT GT ./. 1 160523937 . C . . NT END=160535193;NT GT ./. 1 160534994 rs60204070 GA G 32 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=GA/0.63,G/0.37;NP=382;PC=0.023;Gene=CD84/NM_001184879.1/1;CC=c.388+199delT;VC=Intron;Gene=CD84/NM_001184881.1/0;CC=c.388+199delT;VC=Intron;Gene=CD84/NM_001184882.1/0;CC=c.47-11059delT;VC=Intron;Gene=CD84/NM_003874.3/0;CC=c.388+199delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:GA,G:15:15:0:10:5,10:176,316:0.00,32.22:0.00,32.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,0.0:0,0:0,0:50,31:100,119:24,22:-,NM_001184879.1(CD84) c.388+199delT:-,0.37:-,NOT_FOUND 1 160535536 . C . . NT END=160549181;NT GT ./. 1 160535662 . CT C 8 rn VT=DEL;SST=Single;DP=24;NP=8;Gene=CD84/NM_001184879.1/1;CC=c.47-128delA;VC=Intron;Gene=CD84/NM_001184881.1/0;CC=c.47-128delA;VC=Intron;Gene=CD84/NM_001184882.1/0;CC=c.47-11727delA;VC=Intron;Gene=CD84/NM_003874.3/0;CC=c.47-128delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:CT,I,C:23:0:1:4:19,1,3:581,25,122:0.00,1.26,7.72:0.00,0.00,0.00:0.00,1.26,7.72:0.00,0.00,0.47:0.00,0.00,0.00:0.00,0.00,0.47:60,60,60:7.4,0.0,54.0:0,0,1:0,0,0:102,94,81:48,53,69:39,0,27:-,NM_001184879.1(CD84) c.47-128delA:-,NOT_FOUND:-,NOT_FOUND 1 160549228 . C . . NT END=160580537;NT GT ./. 1 160558772 rs61534637 T TACACAC 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T,TACACAC:5:4:2:0:1,2,2:13,71,67:0.89,0.00,6.41:-0.15,0.00,6.53:1.04,0.00,-0.11:0.00,0.00,0.91:0.00,0.00,0.87:0.00,0.00,0.70:60,60,70:34.0,0.0,0.0:0,0,0:0,0,0:66,126,53:49,24,84:0,9,30:-,chr1 g.160558772_160558773insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 160580589 . C . . NT END=160582277;NT GT ./. 1 160580807 rs349251 T C 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1595,C/0.8405;Gene=SLAMF1/NM_003037.3/1;CC=c.958-219A>G;VC=Intron;Gene=SLAMF1/NR_104399.1/0;VC=NonCoding;Gene=SLAMF1/NR_104400.1/0;VC=NonCoding;Gene=SLAMF1/NR_104401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:157:18.06:0.00:18.06:1.00:0.00:1.00:60:42.4:0:0:88:63:19:NM_003037.2(SLAMF1) c.958-219A>G,NM_003037.2(SLAMF1) c.958-219A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 160582213 rs2025515 C A 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5996,A/0.4004;Gene=SLAMF1/NM_003037.3/1;CC=c.957+65G>T;VC=Intron;Gene=SLAMF1/NR_104399.1/0;VC=NonCoding;Gene=SLAMF1/NR_104400.1/0;VC=NonCoding;Gene=SLAMF1/NR_104401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:25:0:2:14,12:445,373:43.37,0.00:36.32,0.00:7.05,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:62.8,12.6:0,0:0,0:69,22:71,111:32,15:NM_003037.2(SLAMF1) c.957+65G>T,-:0.4,-:NOT_FOUND,- 1 160582248 rs11265449 C G 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.5996,G/0.4004;Gene=SLAMF1/NM_003037.3/1;CC=c.957+30G>C;VC=Intron;Gene=SLAMF1/NR_104399.1/0;VC=NonCoding;Gene=SLAMF1/NR_104400.1/0;VC=NonCoding;Gene=SLAMF1/NR_104401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:27:0:0:15,18:492,598:0.00,58.52:0.00,38.44:0.00,20.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,59.2:0,0:0,0:42,71:101,79:15,33:-,NM_003037.2(SLAMF1) c.957+30G>C:-,0.41:-,0.346225 1 160582371 . C . . NT END=160589565;NT GT ./. 1 160582549 rs1809963 C G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8444,G/0.1556;Gene=SLAMF1/NM_003037.3/1;CC=c.865-179G>C;VC=Intron;Gene=SLAMF1/NR_104399.1/0;VC=NonCoding;Gene=SLAMF1/NR_104400.1/0;VC=NonCoding;Gene=SLAMF1/NR_104401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,G:7:0:0:0:4,3:133,103:0.00,9.66:0.00,0.00:0.00,9.66:0.00,0.69:0.00,0.00:0.00,0.69:60,60:13.5,49.3:0,0:0,0:75,127:76,24:19,6:-,NM_003037.2(SLAMF1) c.865-179G>C:-,0.19:-,NOT_FOUND 1 160589640 . C . . NT END=160593885;NT GT ./. 1 160593976 . C . . NT END=160604146;NT GT ./. 1 160595637 rs71574361 G GTGTGTA 9 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6745,GTGTA/.,GTGTGTA/0.3255;NP=1;NP=11;NP=128;NP=35;NP=7;PC=0.782;Gene=SLAMF1/NM_003037.3/1;CC=c.701-1663_701-1662insTACACA;VC=Intron;Gene=SLAMF1/NR_104399.1/0;VC=NonCoding;Gene=SLAMF1/NR_104400.1/0;VC=NonCoding;Gene=SLAMF1/NR_104401.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:G,GTGTGTA:8:7:3:0:5,3:163,96:0.00,8.73:0.00,2.44:0.00,6.30:0.00,0.67:0.00,0.95:0.00,0.93:60,60:7.4,4.0:0,0:0,0:110,80:41,71:16,8:-,NM_003037.2(SLAMF1) c.701-1663_701-1662insTACACA:-,NOT_FOUND:-,NOT_FOUND 1 160604172 rs164287 T G 137 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.01058,G/0.9894;NP=653;Gene=SLAMF1/NM_003037.3/1;CC=c.700+231A>C;VC=Intron;Gene=SLAMF1/NR_104399.1/0;VC=NonCoding;Gene=SLAMF1/NR_104400.1/0;VC=NonCoding;Gene=SLAMF1/NR_104401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:28:0:0:37:1197:137.29:75.37:61.92:1.00:1.00:1.00:60:45.2:0:0:68:71:28:NM_003037.2(SLAMF1) c.700+231A>C,NM_003037.2(SLAMF1) c.700+231A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 160604208 . c . . NT END=160604402;NT GT ./. 1 160604688 . C . . NT END=160606980;NT GT ./. 1 160604863 rs3766362 A T 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.354,T/0.646;Gene=SLAMF1/NM_003037.3/1;CC=c.416-176T>A;VC=Intron;Gene=SLAMF1/NR_104399.1/0;VC=NonCoding;Gene=SLAMF1/NR_104400.1/0;VC=NonCoding;Gene=SLAMF1/NR_104401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,T:16:0:0:0:6,10:177,302:0.00,30.40:0.00,0.00:0.00,30.40:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.2,61.6:0,0:0,0:114,119:35,29:13,17:-,NM_003037.2(SLAMF1) c.416-176T>A:-,0.62:-,NOT_FOUND 1 160607320 . C . . NT END=160616659;NT GT ./. 1 160616736 . C . . NT END=160648841;NT GT ./. 1 160640259 rs2174219 A T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7572,T/0.2428;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:4:0:0:6:196:22.46:9.39:13.07:1.00:1.00:1.00:60:32.7:0:0:88:54:21:chr1 g.160640258A>T (intergenic),chr1 g.160640258A>T (intergenic):0.25,0.25:NOT_FOUND,NOT_FOUND 1 160648922 . C . . NT END=160650333;NT GT ./. 1 160650613 rs36100172 A G 291 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=190;DB;DBA=NA;PAF=A/0.8137,G/0.1863;Gene=CD48/NM_001778.3/1;CC=c.652+379T>C;VC=Intron;Gene=CD48/NM_001256030.1/0;CC=c.*272T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:190:119:0:0:95,3,92:3085,22,3030:0.00,-0.36,290.57:0.00,-0.31,135.97:0.00,-0.05,154.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.5,36.0,36.4:0,0,0:0,0,0:88,95,70:61,55,78:35,30,32:-,NM_001256030.1(CD48) c.*272T>C:-,0.16:-,NOT_FOUND 1 160650792 rs397841059 GC G 279 PASS VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=GC/0.2079,G/0.7921;DB;DBA=NA;PAF=GC/0.2079,G/0.7921;NP=753;Gene=CD48/NM_001778.3/1;CC=c.652+199delG;VC=Intron;Gene=CD48/NM_001256030.1/0;CC=c.*92delG;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:GC,G:84:43:0:80:4,80:114,2478:0.00,279.07:0.00,141.12:0.00,137.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.8,17.1:0,0:0,0:144,79:5,68:2,43:NM_001256030.1(CD48) c.*88G[4],NM_001256030.1(CD48) c.*88G[4]:0.77,0.77:NOT_FOUND,NOT_FOUND 1 160650913 rs4656926 A G 520 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=A/0.1713,G/0.8287;Gene=CD48/NM_001778.3/1;CC=c.652+79T>C;VC=Intron;Gene=CD48/NM_001256030.1/0;CC=c.731T>C;ProtCh=p.I244T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:138:105:0:0:1,1,136:10,7,4570:0.00,0.03,519.59:0.00,0.03,303.74:0.00,0.00,215.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:111.0,45.0,40.2:0,0,0:0,0,0:110,121,68:22,27,76:0,0,36:NM_001256030.1(CD48) c.731T>C (p.Ile244Thr),NM_001256030.1(CD48) c.731T>C (p.Ile244Thr):0.85,0.85:NOT_FOUND,NOT_FOUND 1 160651259 . C . . NT END=160654676;NT GT ./. 1 160654758 rs2295615 C G 54 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.9225,G/0.07748;Gene=CD48/NM_001778.3/1;CC=c.304G>C;ProtCh=p.E102Q;VC=Missense;Gene=CD48/NM_001256030.1/0;CC=c.304G>C;ProtCh=p.E102Q;VC=Missense;DM=CD48/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:51:34:0:0:34,17:1142,597:0.00,53.72:0.00,30.78:0.00,22.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,61.6:0,0:0,0:78,48:70,103:30,33:-,NM_001256030.1(CD48) c.304G>C (p.Glu102Gln):-,0.09:-,0.1334 1 160654786 rs1980606 G A 52 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.7656,A/0.2344;Gene=CD48/NM_001778.3/1;CC=c.276C>T;ProtCh=p.G92=;VC=Silent;Gene=CD48/NM_001256030.1/0;CC=c.276C>T;ProtCh=p.G92=;VC=Silent;DM=CD48/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:34:0:0:19,28:565,912:51.74,0.00:31.13,0.00:20.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.7,4.9:0,0:0,0:47,81:90,65:25,26:NM_001256030.1(CD48) c.276C>T (p.(=)),-:0.21,-:0.247886,- 1 160654980 . C . . NT END=160681471;NT GT ./. 1 160681554 . G . . NT END=160709091;NT GT ./. 1 160681653 rs397805978 G GA 18 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=20;PC=0.001;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,G,GA,D:27:5:7:2:2,16,7,2:22,461,211,67:0.56,0.00,18.26,4.86:-0.05,0.00,4.74,1.32:0.61,0.00,13.52,3.54:0.00,0.00,0.96,0.00:0.00,0.00,0.77,0.00:0.00,0.00,1.00,0.00:60,60,60,60:17.0,29.1,21.0,13.5:0,0,0,0:0,0,0,0:17,127,110,85:134,24,31,65:16,12,17,48:-,NM_001256030.1(CD48) c.-88-u13_-88-u12insT:-,NOT_FOUND:-,NOT_FOUND 1 160681775 rs352684 A G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3125,G/0.6875 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:8:0:0:0:3,5:101,174:0.00,17.49:0.00,0.00:0.00,17.49:0.00,0.97:0.00,0.00:0.00,0.97:60,60:4.0,37.0:0,0:0,0:42,46:106,105:1,21:-,NM_001256030.1(CD48) c.-88-u134T>C:-,0.67:-,NOT_FOUND 1 160709147 . G . . NT END=160717983;NT GT ./. 1 160717872 rs527733 T G 140 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=2672;Gene=SLAMF7/NM_001282588.1/0;CC=c.56-112T>G;VC=Intron;Gene=SLAMF7/NM_001282589.1/0;CC=c.56-112T>G;VC=Intron;Gene=SLAMF7/NM_001282590.1/0;CC=c.56-1739T>G;VC=Intron;Gene=SLAMF7/NM_001282591.1/0;CC=c.56-1739T>G;VC=Intron;Gene=SLAMF7/NM_001282592.1/0;CC=c.56-112T>G;VC=Intron;Gene=SLAMF7/NM_001282593.1/0;CC=c.56-1739T>G;VC=Intron;Gene=SLAMF7/NM_001282594.1/0;CC=c.56-1739T>G;VC=Intron;Gene=SLAMF7/NM_001282595.1/0;CC=c.-26-1739T>G;VC=Intron;Gene=SLAMF7/NM_001282596.1/0;CC=c.56-1739T>G;VC=Intron;Gene=SLAMF7/NM_021181.4/1;CC=c.56-112T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:39:0:0:39:1218:140.27:140.27:0.00:1.00:1.00:0.00:60:52.4:0:0:37:114:20:NM_021181.3(SLAMF7) c.56-112T>G,NM_021181.3(SLAMF7) c.56-112T>G:1,1:NOT_FOUND,NOT_FOUND 1 160718305 . G . . NT END=160719610;NT GT ./. 1 160719923 . G . . NT END=160720093;NT GT ./. 1 160720214 . G . . NT END=160721134;NT GT ./. 1 160721239 . G . . NT END=160721975;NT GT ./. 1 160722039 . G . . NT END=160722895;NT GT ./. 1 160722064 rs527342 A G 111 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.09125,G/0.9087;Gene=SLAMF7/NM_001282588.1/0;CC=c.439+26A>G;VC=Intron;Gene=SLAMF7/NM_001282589.1/0;CC=c.543+26A>G;VC=Intron;Gene=SLAMF7/NM_001282590.1/0;CC=c.615+26A>G;VC=Intron;Gene=SLAMF7/NM_001282591.1/0;CC=c.495+26A>G;VC=Intron;Gene=SLAMF7/NM_001282592.1/0;CC=c.832+26A>G;VC=Intron;Gene=SLAMF7/NM_001282593.1/0;CC=c.391+26A>G;VC=Intron;Gene=SLAMF7/NM_001282594.1/0;CC=c.654+26A>G;VC=Intron;Gene=SLAMF7/NM_001282595.1/0;CC=c.534+26A>G;VC=Intron;Gene=SLAMF7/NM_001282596.1/0;CC=c.511+26A>G;VC=Intron;Gene=SLAMF7/NM_021181.4/1;CC=c.936+26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:15:0:0:29:972:111.03:31.12:79.91:1.00:1.00:1.00:60:41.8:0:0:103:40:21:NM_021181.3(SLAMF7) c.936+26A>G,NM_021181.3(SLAMF7) c.936+26A>G:0.92,0.92:0.9175,0.9175 1 160722968 . A . . NT END=160765977;NT GT ./. 1 160766102 . G . . NT END=160766899;NT GT ./. 1 160766658 rs509219 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6306,G/0.3694;Gene=LY9/NM_001033667.2/0;CC=c.124+557A>G;VC=Intron;Gene=LY9/NM_001261456.1/0;CC=c.124+557A>G;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.124+557A>G;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.124+557A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:176:20.42:20.42:0.00:1.00:1.00:0.00:60:67.0:0:0:55:94:25:NM_002348.3(LY9) c.124+557A>G,NM_002348.3(LY9) c.124+557A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 160766660 rs512197 G A 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.63,A/0.37;Gene=LY9/NM_001033667.2/0;CC=c.124+559G>A;VC=Intron;Gene=LY9/NM_001261456.1/0;CC=c.124+559G>A;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.124+559G>A;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.124+559G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:170:19.76:19.76:0.00:1.00:1.00:0.00:60:67.0:0:0:57:92:25:NM_002348.3(LY9) c.124+559G>A,NM_002348.3(LY9) c.124+559G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 1 160767060 rs508578 G A 317 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.6781,A/0.3219;PC=0.003;Gene=LY9/NM_001033667.2/0;CC=c.124+959G>A;VC=Intron;Gene=LY9/NM_001261456.1/0;CC=c.124+959G>A;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.124+959G>A;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.124+959G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:86:51:0:0:86:2766:317.49:127.44:190.05:1.00:1.00:1.00:60:39.6:0:0:97:49:27:NM_002348.3(LY9) c.124+959G>A,NM_002348.3(LY9) c.124+959G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 160767066 . G . . NT END=160769542;NT GT ./. 1 160769873 . G . . NT END=160771579;NT GT ./. 1 160772491 rs58485948 A AAAAT 45 rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.7438,AAAAT/0.2562;DB;DBA=NA;PAF=A/0.7438,AAAAT/0.2562;NP=1;NP=87;PC=0.020;Gene=LY9/NM_001033667.2/0;CC=c.*811_*812insTAAA;VC=3UTR;Gene=LY9/NM_001261456.1/0;CC=c.454+2646_454+2647insTAAA;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.454+2646_454+2647insTAAA;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.454+2646_454+2647insTAAA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAAAT:57:17:17:0:40,17:1279,515:0.00,44.54:0.00,8.48:0.00,36.06:0.00,1.00:0.00,0.99:0.00,1.00:60,60:12.9,16.7:0,0:0,0:110,47:37,81:23,34:-,NM_002348.3(LY9) c.454+2619_454+2620insAAAT:-,0.22:-,NOT_FOUND 1 160772537 . g . . NT END=160783425;NT GT ./. 1 160783702 . G . . NT END=160784209;NT GT ./. 1 160784552 . G . . NT END=160786383;NT GT ./. 1 160786654 . G . . NT END=160788007;NT GT ./. 1 160786670 rs560681 A G 264 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.6627,G/0.3373;Gene=LY9/NM_001261456.1/0;CC=c.1342+17A>G;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1073-1338A>G;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1342+17A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A,G,T:72:26:0:0:1,70,1:34,2335,10:0.00,264.41,0.13:0.00,65.57,0.13:0.00,198.84,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,41.4,78.0:0,0,0:0,0,0:88,106,121:50,42,30:0,24,0:NM_002348.3(LY9) c.1342+17A>G,NM_002348.3(LY9) c.1342+17A>G:0.32,0.32:0.310472,0.310472 1 160788110 . G . . NT END=160789110;NT GT ./. 1 160788217 rs575217 T A 82 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6659,A/0.3341;Gene=LY9/NM_001261456.1/0;CC=c.1444+108T>A;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1174+108T>A;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1444+108T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:0:0:0:23:713:82.26:0.00:82.26:1.00:0.00:1.00:60:59.2:0:0:65:85:32:NM_002348.3(LY9) c.1444+108T>A,NM_002348.3(LY9) c.1444+108T>A:0.32,0.32:NOT_FOUND,NOT_FOUND 1 160788270 rs508166 C T 61 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.007188,T/0.9928;NP=1884;Gene=LY9/NM_001261456.1/0;CC=c.1444+161C>T;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1174+161C>T;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1444+161C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:0:0:0:17:528:60.90:0.00:60.90:1.00:0.00:1.00:60:66.6:0:0:93:55:25:NM_002348.3(LY9) c.1444+161C>T,NM_002348.3(LY9) c.1444+161C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 160789165 . G . . NT END=160793254;NT GT ./. 1 160789196 rs537540 A C 131 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.007588,C/0.9924,T/.;NP=3467;Gene=LY9/NM_001261456.1/0;CC=c.1498+32A>C;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1228+32A>C;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1498+32A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:24:0:0:35:1142:130.84:60.23:70.61:1.00:1.00:1.00:60:36.1:0:0:101:47:25:NM_002348.3(LY9) c.1498+32A>C,NM_002348.3(LY9) c.1498+32A>C:0.99,0.99:0.990773,0.990773 1 160789308 rs522897 C T 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3117,T/0.6883;Gene=LY9/NM_001261456.1/0;CC=c.1498+144C>T;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1228+144C>T;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1498+144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:396:45.32:0.00:45.32:1.00:0.00:1.00:60:49.3:0:0:89:62:20:NM_002348.3(LY9) c.1498+144C>T,NM_002348.3(LY9) c.1498+144C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 160793442 rs474131 A G 148 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=A/0.3678,G/0.6322;Gene=LY9/NM_001261456.1/0;CC=c.1644A>G;ProtCh=p.V548=;VC=Silent;Gene=LY9/NM_001261457.1/0;CC=c.1416A>G;ProtCh=p.V472=;VC=Silent;Gene=LY9/NM_002348.3/1;CC=c.1686A>G;ProtCh=p.V562=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:114:70:0:0:63,51:2000,1576:0.00,147.82:0.00,68.30:0.00,79.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,50.9:0,0:0,0:83,62:57,89:27,35:-,NM_002348.3(LY9) c.1686A>G (p.(=)):-,0.61:-,0.494387 1 160793560 rs509749 A G 90 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.3399,G/0.6601;Gene=LY9/NM_001261456.1/0;CC=c.1762A>G;ProtCh=p.M588V;VC=Missense;Gene=LY9/NM_001261457.1/0;CC=c.1534A>G;ProtCh=p.M512V;VC=Missense;Gene=LY9/NM_002348.3/1;CC=c.1804A>G;ProtCh=p.M602V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:22:0:0:28,32:923,933:0.00,90.30:0.00,14.72:0.00,75.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,56.1:0,0:0,0:94,103:41,42:19,28:-,NM_002348.3(LY9) c.1804A>G (p.Met602Val):-,0.63:-,0.52791 1 160793587 . G . . NT END=160793970;NT GT ./. 1 160793962 rs506081 G C 113 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.364,C/0.636;PC=0.091;Gene=LY9/NM_001261456.1/0;CC=c.1789-9G>C;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1561-9G>C;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1831-9G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:73:61:0:0:35,38:1179,1216:112.69,0.00:81.74,0.00:30.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,9.8:0,0:0,0:69,74:80,73:37,29:NM_002348.3(LY9) c.1831-9G>C,-:0.61,-:0.500846,- 1 160794456 rs556810 A G 74 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.3702,G/0.6298;Gene=LY9/NM_001261456.1/0;CC=c.1857+417A>G;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1629+417A>G;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1899+417A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:30:0:0:36,24:1225,797:0.00,73.61:0.00,15.70:0.00,57.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,60.0:0,0:0,0:94,104:49,40:23,36:-,NM_002348.3(LY9) c.1899+417A>G:-,0.61:-,NOT_FOUND 1 160794497 rs504848 C T 32 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3706,T/0.6294;PC=0.001;Gene=LY9/NM_001261456.1/0;CC=c.1857+458C>T;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1629+458C>T;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1899+458C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:18:0:0:24,12:797,365:0.00,32.25:0.00,6.58:0.00,25.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,86.1:0,0:0,0:109,87:39,62:26,14:-,NM_002348.3(LY9) c.1899+458C>T:-,0.61:-,NOT_FOUND 1 160794508 . a . . NT END=160797537;NT GT ./. 1 160794554 rs555932 G A 89 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1032,A/0.8968;PC=0.013;Gene=LY9/NM_001261456.1/0;CC=c.1857+515G>A;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1629+515G>A;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1899+515G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:3:0:0:23:780:88.97:7.70:81.26:1.00:1.00:1.00:60:56.6:0:0:119:32:21:NM_002348.3(LY9) c.1899+515G>A,NM_002348.3(LY9) c.1899+515G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 160794585 rs505728 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3552,C/0.6448;PC=0.002;Gene=LY9/NM_001261456.1/0;CC=c.1857+546T>C;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1629+546T>C;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1899+546T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:C,T:13:0:0:0:5,8:155,267:14.12,0.00:0.00,0.00:14.12,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:86.6,35.5:0,0:0,0:77,95:74,55:20,26:NM_002348.3(LY9) c.1899+546T>C,-:0.61,-:NOT_FOUND,- 1 160794613 rs35960859 CA C 15 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CA/0.3446,C/0.6554;NP=488;PC=0.012;Gene=LY9/NM_001261456.1/0;CC=c.1857+582delA;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1629+582delA;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1899+582delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:CA,C:10:0:0:5:5,5:179,161:0.00,15.47:0.00,0.00:0.00,15.47:0.00,0.95:0.00,0.00:0.00,0.95:60,60:29.8,71.6:0,0:0,0:104,101:47,50:4,24:-,NM_002348.3(LY9) c.1899+575delA:-,0.6:-,NOT_FOUND 1 160797323 rs577453 T G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4032,G/0.5968;Gene=LY9/NM_001261456.1/0;CC=c.1858-215T>G;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1630-215T>G;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1900-215T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:G,T:5:5:0:0:3,2:99,66:9.87,0.00:9.87,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:77.3,11.5:0,0:0,0:19,89:130,61:2,38:NM_002348.3(LY9) c.1900-215T>G,-:0.58,-:NOT_FOUND,- 1 160797514 rs576334 C G 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.3706,G/0.6294;Gene=LY9/NM_001261456.1/0;CC=c.1858-24C>G;VC=Intron;Gene=LY9/NM_001261457.1/0;CC=c.1630-24C>G;VC=Intron;Gene=LY9/NM_002348.3/1;CC=c.1900-24C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:48:42:0:0:25,23:800,764:0.00,72.94:0.00,51.66:0.00,21.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,50.5:0,0:0,0:53,32:97,106:36,21:-,NM_002348.3(LY9) c.1900-24C>G:-,0.61:-,0.50469 1 160797607 . A . . NT END=160801136;NT GT ./. 1 160797684 rs574610 A G 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.3986,G/0.6014;Gene=LY9/NM_001261456.1/0;CC=c.*78A>G;VC=3UTR;Gene=LY9/NM_001261457.1/0;CC=c.*78A>G;VC=3UTR;Gene=LY9/NM_002348.3/1;CC=c.*78A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:4:0:0:9,11:279,373:0.00,36.57:0.00,6.86:0.00,29.71:0.00,1.00:0.00,0.96:0.00,1.00:60,60:8.1,50.0:0,0:0,0:107,107:42,42:34,34:-,NM_002348.3(LY9) c.*78A>G:-,0.58:-,NOT_FOUND 1 160801046 rs480104 C G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7432,G/0.2568;Gene=CD244/NM_001166663.1/0;CC=c.*91G>C;VC=3UTR;Gene=CD244/NM_001166664.1/0;CC=c.*91G>C;VC=3UTR;Gene=CD244/NM_016382.3/1;CC=c.*91G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:20:0:0:12,8:409,254:0.00,23.35:0.00,23.46:0.00,-0.11:0.00,0.99:0.00,0.99:0.00,0.60:60,60:7.2,34.2:0,0:0,0:62,17:87,133:35,5:-,NM_016382.3(CD244) c.*91G>C:-,0.24:-,NOT_FOUND 1 160801218 . C . . NT END=160802308;NT GT ./. 1 160802510 . C . . NT END=160803840;NT GT ./. 1 160803907 . C . . NT END=160805984;NT GT ./. 1 160806045 . C . . NT END=160808240;NT GT ./. 1 160808309 . C . . NT END=160808728;NT GT ./. 1 160808840 . C . . NT END=160810999;NT GT ./. 1 160811291 . C . . NT END=160811373;NT GT ./. 1 160811692 . C . . NT END=160832406;NT GT ./. 1 160811830 rs2990703 A G 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.4281,G/0.5719;Gene=CD244/NM_001166663.1/0;CC=c.62-139T>C;VC=Intron;Gene=CD244/NM_001166664.1/0;CC=c.62-139T>C;VC=Intron;Gene=CD244/NM_016382.3/1;CC=c.62-139T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:0:0:0:24:755:86.86:0.00:86.86:1.00:0.00:1.00:60:48.3:0:0:103:48:26:NM_016382.3(CD244) c.62-139T>C,NM_016382.3(CD244) c.62-139T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 160832212 rs11265500 A G 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5575,G/0.4425;Gene=CD244/NM_001166663.1/0;CC=c.61+195T>C;VC=Intron;Gene=CD244/NM_001166664.1/0;CC=c.61+195T>C;VC=Intron;Gene=CD244/NM_016382.3/1;CC=c.61+195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:4:4:0:0:1,3:31,105:0.00,10.95:0.00,10.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,36.7:0,0:0,0:4,52:147,99:0,0:-,NM_016382.3(CD244) c.61+195T>C:-,0.39:-,NOT_FOUND 1 160832468 . T . . NT END=160846453;NT GT ./. 1 160832646 rs12036607 A G 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6901,G/0.3099;Gene=CD244/NM_001166663.1/0;CC=c.-179T>C;VC=5UTR;Gene=CD244/NM_001166664.1/0;CC=c.-179T>C;VC=5UTR;Gene=CD244/NM_016382.3/1;CC=c.-179T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:A,G:14:0:0:0:5,9:152,302:0.00,30.53:0.00,0.00:0.00,30.53:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.6,44.1:0,0:0,0:104,119:47,32:32,19:-,NM_016382.3(CD244) c.-179T>C:-,0.28:-,NOT_FOUND 1 160846284 rs1333062 T G 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4207,G/0.5793 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:G,T:11:11:0:0:8,3:250,69:26.06,0.00:26.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:32.5,45.0:0,0:0,0:19,58:131,92:18,31:chr1 g.160846283T>G (intergenic),-:0.61,-:NOT_FOUND,- 1 160846607 . C . . NT END=160849100;NT GT ./. 1 160848937 rs3766356 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4333,C/0.5667;Gene=ITLN1/NM_017625.2/1;CC=c.789+164A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,T:11:11:0:0:6,5:191,158:18.67,0.00:18.67,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:79.2,16.6:0,0:0,0:66,54:84,97:26,25:NM_017625.2(ITLN1) c.789+164A>G,-:0.6,-:NOT_FOUND,- 1 160848993 rs3766357 G A 36 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4363,A/0.5637;Gene=ITLN1/NM_017625.2/1;CC=c.789+108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:16:15:0:0:11,5:353,148:36.21,0.00:34.97,0.00:1.24,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:108.8,2.8:0,0:0,0:22,40:129,111:17,30:NM_017625.2(ITLN1) c.789+108C>T,-:0.6,-:NOT_FOUND,- 1 160849030 rs3766358 T A 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4213,A/0.5787;PC=0.001;Gene=ITLN1/NM_017625.2/1;CC=c.789+71A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,T:23:20:0:1:16,7:503,198:51.80,0.00:43.82,0.00:7.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:112.1,8.1:0,0:0,0:38,77:112,74:19,45:NM_017625.2(ITLN1) c.789+71A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 160849060 rs3766359 G A 66 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.4367,A/0.5633;Gene=ITLN1/NM_017625.2/1;CC=c.789+41C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:26:0:0:20,12:659,381:66.24,0.00:44.34,0.00:21.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:100.2,15.8:0,0:0,0:57,26:94,124:17,21:NM_017625.2(ITLN1) c.789+41C>T,-:0.6,-:0.558665,- 1 160849082 rs3820094 A G 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.3612,G/0.6388;Gene=ITLN1/NM_017625.2/1;CC=c.789+19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:35:0:0:15,27:507,831:0.00,84.07:0.00,50.69:0.00,33.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,79.4:0,0:0,0:43,60:108,91:28,34:-,NM_017625.2(ITLN1) c.789+19T>C:-,0.64:-,0.623866 1 160849205 . C . . NT END=160850377;NT GT ./. 1 160849367 rs2274905 G T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4365,T/0.5635;Gene=ITLN1/NM_017625.2/1;CC=c.686-163C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:G,T:9:0:0:0:6,3:216,98:0.00,8.74:0.00,0.00:0.00,8.74:0.00,0.64:0.00,0.00:0.00,0.64:60,60:0.0,85.0:0,0:0,0:80,127:70,20:12,19:-,NM_017625.2(ITLN1) c.686-163C>A:-,0.6:-,NOT_FOUND 1 160850280 rs4656957 G A 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3327,A/0.6673;Gene=ITLN1/NM_017625.2/1;CC=c.685+98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:23:23:0:0:18,5:582,166:61.52,0.00:58.08,0.00:3.44,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:48.1,6.6:0,0:0,0:45,18:105,133:28,9:NM_017625.2(ITLN1) c.685+98C>T,-:0.67,-:NOT_FOUND,- 1 160850499 . C . . NT END=160850943;NT GT ./. 1 160850936 rs2236515 T C 124 nt VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.3277,C/0.6723;Gene=ITLN1/NM_017625.2/1;CC=c.564+8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:65:0:0:39,37:1280,1247:123.73,0.00:93.91,0.00:29.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,3.5:0,0:0,0:60,39:90,110:33,25:NM_017625.2(ITLN1) c.564+8A>G,-:0.68,-:0.661233,- 1 160851103 . C . . NT END=160851746;NT GT ./. 1 160851534 rs7532133 A G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4381,G/0.5619;PC=0.002;Gene=ITLN1/NM_017625.2/1;CC=c.405+213T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:8,10:233,328:0.00,32.22:0.00,32.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.5,76.5:0,0:0,0:53,68:97,74:33,23:-,NM_017625.2(ITLN1) c.405+213T>C:-,0.6:-,NOT_FOUND 1 160851564 rs6427551 C G 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4179,G/0.5821;PC=0.001;Gene=ITLN1/NM_017625.2/1;CC=c.405+183G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:20:0:0:9,11:286,334:0.00,32.64:0.00,32.64:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:25.7,76.7:0,0:0,0:58,93:93,44:27,24:-,NM_017625.2(ITLN1) c.405+183G>C:-,0.61:-,NOT_FOUND 1 160851594 . GA G 20 idl,rn VT=DEL;SST=Single;DP=29;PC=0.032;Gene=ITLN1/NM_017625.2/1;CC=c.405+152delT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:18:29:1:20:10,1,7:293,28,576:0.00,1.66,20.32:0.00,1.66,20.32:0.00,0.00,0.00:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.00:60,60,60:45.6,29.0,123.1:0,0,11:0,0,0:133,3,42:14,148,108:13,0,30:-,NM_017625.2(ITLN1) c.405+152delT:-,NOT_FOUND:-,NOT_FOUND 1 160851619 rs10908808 A G 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.4183,G/0.5817;Gene=ITLN1/NM_017625.2/1;CC=c.405+128T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:45:44:0:0:26,18,1:649,540,8:0.00,49.69,-0.13:0.00,46.23,-0.12:0.00,3.47,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.70,0.00:60,60,60:12.3,62.3,86.0:2,0,0:0,0,0:22,26,90:128,121,61:20,18,0:-,NM_017625.2(ITLN1) c.405+128T>C:-,0.61:-,NOT_FOUND 1 160851826 rs2274907 A T 313 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=223;DB;DBA=NA;PAF=A/0.4187,T/0.5813;PC=0.805;Gene=ITLN1/NM_017625.2/1;CC=c.326T>A;ProtCh=p.V109D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:223:161:0:0:114,109:3549,3284:0.00,313.16:0.00,174.91:0.00,138.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,63.5:0,0:0,0:65,63:84,88:34,34:-,NM_017625.2(ITLN1) c.326T>A (p.Val109Asp):-,0.61:-,0.578502 1 160851894 rs2274908 G A 341 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=243;DB;DBA=NA;PAF=G/0.4221,A/0.5779,T/.;PC=0.108;Gene=ITLN1/NM_017625.2/1;CC=c.258C>T;ProtCh=p.H86=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:243:157:0:0:115,127,1:3592,4007,11:341.25,0.00,-0.17:176.15,0.00,-0.04:165.10,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:62.9,8.7,21.0:0,0,0:0,0,0:82,72,60:69,71,90:31,33,0:NM_017625.2(ITLN1) c.258C>T (p.(=)),-:0.61,-:0.575273,- 1 160851995 . C . . NT END=160853217;NT GT ./. 1 160852022 rs2274909 C T 178 nt VT=SNV;PN=C;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.4325,T/0.5675;Gene=ITLN1/NM_017625.2/1;CC=c.158-28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:111:34:0:0:54,57:1686,1841:0.00,177.85:0.00,36.27:0.00,141.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,74.2:0,0:0,0:104,83:47,57:36,32:-,NM_017625.2(ITLN1) c.158-28G>A:-,0.6:-,0.564739 1 160852046 rs2274910 T C 168 nt VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.4325,C/0.5675;Gene=ITLN1/NM_017625.2/1;CC=c.158-52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:91:26:0:0:51,1,39:1700,8,1226:167.57,-0.12,0.00:26.39,-0.05,0.00:141.18,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:75.9,71.0,6.7:0,0,0:0,0,0:93,0,86:52,150,65:28,0,28:NM_017625.2(ITLN1) c.158-52A>G,-:0.6,-:0.562156,- 1 160852167 rs6427552 C T 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.37,T/0.63;Gene=ITLN1/NM_017625.2/1;CC=c.158-173G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:0:0:0:15,11:498,345:0.00,32.06:0.00,0.00:0.00,32.06:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.7,68.0:0,0:0,0:103,121:48,29:25,17:-,NM_017625.2(ITLN1) c.158-173G>A:-,0.64:-,NOT_FOUND 1 160853317 . C . . NT END=160854609;NT GT ./. 1 160854526 rs2297559 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3303,A/0.6697;Gene=ITLN1/NM_017625.2/1;CC=c.58+84C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,G:14:13:0:0:5,9:167,287:15.13,0.00:13.70,0.00:1.43,0.00:0.90,0.00:0.99,0.00:0.76,0.00:60,60:46.6,5.6:0,0:0,0:47,59:104,92:21,17:NM_017625.2(ITLN1) c.58+84C>T,-:0.68,-:NOT_FOUND,- 1 160854668 . T . . NT END=160914929;NT GT ./. 1 160864582 rs6704490 A G 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4567,G/0.5433;PC=0.437 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:16:0:0:9,8:297,255:0.00,24.19:0.00,24.47:0.00,-0.28:0.00,0.99:0.00,1.00:0.00,0.65:60,60:3.6,38.6:0,0:0,0:36,43:114,106:26,24:-,chr1 g.160864581A>G (intergenic):-,0.58:-,NOT_FOUND 1 160864754 rs6658416 A G 138 nt VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.4499,G/0.5501;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:113:97:0:0:65,48:2161,1482:0.00,137.64:0.00,81.69:0.00,55.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,43.2:0,0:0,0:54,45:87,91:27,30:-,chr1 g.160864753A>G (intergenic):-,0.59:-,NOT_FOUND 1 160915083 . C . . NT END=160917718;NT GT ./. 1 160915239 rs955615 A C 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5104,C/0.4896;PC=0.001;Gene=LOC101928372/NR_110695.1/0;VC=NonCoding;Gene=ITLN2/NM_080878.2/1;CC=c.826-157T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:0:0:0:9,12:288,380:0.00,37.49:0.00,0.00:0.00,37.49:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.1,64.1:0,0:0,0:125,119:26,31:20,18:-,NM_080878.2(ITLN2) c.826-157T>G:-,0.51:-,NOT_FOUND 1 160917823 . C . . NT END=160919835;NT GT ./. 1 160919957 . C . . NT END=160920342;NT GT ./. 1 160920502 . C . . NT END=160920832;NT GT ./. 1 160920809 rs3829790 A G 217 nt VT=SNV;PN=C;NN=A;SST=Single;DP=148;DB;DBA=NA;PAF=A/0.5196,G/0.4804;PC=0.001;Gene=ITLN2/NM_080878.2/1;CC=c.441+24T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:148:121:0:0:71,1,76:2240,10,2255:0.00,-0.14,217.35:0.00,-0.15,139.80:0.00,0.01,77.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:45.6,159.0,70.2:0,0,0:0,0,0:58,45,45:87,106,100:33,0,25:-,NM_080878.2(ITLN2) c.441+24T>C:-,0.51:-,0.470936 1 160920813 rs790059 A G 569 nt VT=SNV;PN=T;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.0009984,G/0.999;NP=3478;Gene=ITLN2/NM_080878.2/1;CC=c.441+20T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:156:125:0:0:155,1:4963,11:569.44,0.08:377.10,0.08:192.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.8,39.0:0,0:0,0:58,126:91,16:28,0:NM_080878.2(ITLN2) c.441+20T>C,NM_080878.2(ITLN2) c.441+20T>C:1,1:0.995387,0.995387 1 160920966 rs6680969 C T 402 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=270;DB;DBA=NA;PAF=C/0.5118,G/.,T/0.4882;Gene=ITLN2/NM_080878.2/1;CC=c.308G>A;ProtCh=p.R103H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:270:193:0:0:138,132:4426,4205:0.00,402.14:0.00,228.92:0.00,173.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,39.0:0,0:0,0:85,73:62,76:41,38:-,NM_080878.2(ITLN2) c.308G>A (p.Arg103His):-,0.53:-,0.49085 1 160921081 . C . . NT END=160922409;NT GT ./. 1 160921230 rs4656971 T G 91 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.5206,G/0.4794;Gene=ITLN2/NM_080878.2/1;CC=c.194-150A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:45:1:0:0:27,18:915,544:91.23,0.00:-0.20,0.00:91.43,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:49.7,14.3:0,0:0,0:123,96:26,54:21,23:NM_080878.2(ITLN2) c.194-150A>C,-:0.51,-:NOT_FOUND,- 1 160922524 . C . . NT END=160924176;NT GT ./. 1 160924241 . C . . NT END=160924516;NT GT ./. 1 160924537 . C . . NT END=160968660;NT GT ./. 1 160968609 rs41269993 G A 157 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.8251,A/0.1749;PC=0.045;Gene=F11R/NM_016946.4/1;CC=c.*52C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:A:43:43:0:0:43:1367:157.09:139.10:18.00:1.00:1.00:1.00:60:56.6:0:0:70:80:34:NM_016946.4(F11R) c.*52C>T,NM_016946.4(F11R) c.*52C>T:0.22,0.22:0.216019,0.216019 1 160968697 . C . . NT END=160968832;NT GT ./. 1 160968882 . C . . NT END=160969185;NT GT ./. 1 160969008 rs397784617 T TG 124 nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1705,TG/0.8295;DB;DBA=NA;PAF=T/0.1705,TG/0.8295;NP=1;NP=3262;Gene=F11R/NM_016946.4/1;CC=c.816-128dupC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:G,T,TG:45:17:37:0:1,7,37:11,174,1151:0.17,0.00,124.44:-0.03,0.00,46.49:0.20,0.00,77.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:48,60,60:239.0,39.9,16.7:1,2,0:0,0,0:97,144,76:50,6,75:0,1,38:-,NM_016946.4(F11R) c.816-128_816-127insC:-,0.83:-,NOT_FOUND 1 160969110 rs2297222 T C 211 nt VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.8215,C/0.1785;Gene=F11R/NM_016946.4/1;CC=c.815+76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C:57:43:0:0:57:1836:210.75:123.08:87.66:1.00:1.00:1.00:60:42.3:0:0:56:86:30:NM_016946.4(F11R) c.815+76A>G,NM_016946.4(F11R) c.815+76A>G:0.22,0.22:0.224923,0.224923 1 160969199 . C . . NT END=160969429;NT GT ./. 1 160969538 . C . . NT END=160969665;NT GT ./. 1 160969585 rs790056 C T 217 nt VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.1589,T/0.8411;Gene=F11R/NM_016946.4/1;CC=c.695-48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C,T:63:42:0:0:1,62:11,1896:0.00,217.26:0.00,113.42:0.00,103.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:64.0,37.7:0,0:0,0:121,89:29,62:0,30:NM_016946.4(F11R) c.695-48G>A,NM_016946.4(F11R) c.695-48G>A:0.84,0.84:0.830847,0.830847 1 160969769 . C . . NT END=160969935;NT GT ./. 1 160969930 rs869985 A C 307 nt VT=SNV;PN=T;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.8215,C/0.1785,G/.;Gene=F11R/NM_016946.4/1;CC=c.591+6T>G;VC=Intron;DM=F11R/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:82:61:0:0:82:2679:306.96:188.00:118.96:1.00:1.00:1.00:60:43.3:0:0:61:89:34:NM_016946.4(F11R) c.591+6T>G,NM_016946.4(F11R) c.591+6T>G:0.22,0.22:0.214516,0.214516 1 160970139 . C . . NT END=160970420;NT GT ./. 1 160970568 . C . . NT END=160970809;NT GT ./. 1 160970918 . C . . NT END=160971074;NT GT ./. 1 160970968 rs2297221 G A 290 nt VT=SNV;PN=C;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.8215,A/0.1785;Gene=F11R/NM_016946.4/1;CC=c.134-51C>T;VC=Intron;DM=F11R/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:79:46:0:0:78,1:2549,35:289.71,0.00:128.85,0.00:160.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.0,0.0:0,0:0,0:102,103:47,48:35,0:NM_016946.4(F11R) c.134-51C>T,NM_016946.4(F11R) c.134-51C>T:0.22,0.22:0.214516,0.214516 1 160971015 rs2297220 G C 237 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.8215,C/0.1785;Gene=F11R/NM_016946.4/1;CC=c.133+60C>G;VC=Intron;DM=F11R/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:C,G:65:30:0:0:64,1:2088,32:237.04,0.00:90.52,0.00:146.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.8,0.0:0,0:0,0:82,150:68,1:38,0:NM_016946.4(F11R) c.133+60C>G,NM_016946.4(F11R) c.133+60C>G:0.22,0.22:0.224485,0.224485 1 160971144 . C . . NT END=160990799;NT GT ./. 1 160971146 rs790055 A G 150 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.1701,G/0.8299;PC=0.996;Gene=F11R/NM_016946.4/1;CC=c.65-3T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:20:0:0:39:1319:150.50:51.70:98.80:1.00:1.00:1.00:60:81.6:0:0:96:48:23:NM_016946.4(F11R) c.65-3T>C,NM_016946.4(F11R) c.65-3T>C:0.84,0.84:0.82239,0.82239 1 160971155 rs2297219 G C 144 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8217,C/0.1783;PC=0.002;Gene=F11R/NM_016946.4/1;CC=c.65-12C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:20:0:0:37:1264:144.04:50.85:93.19:1.00:1.00:1.00:60:80.7:0:0:90:59:31:NM_016946.4(F11R) c.65-12C>G,NM_016946.4(F11R) c.65-12C>G:0.22,0.22:0.214132,0.214132 1 160990864 . C . . NT END=161007564;NT GT ./. 1 160990906 rs2481085 G A 370 nt VT=SNV;PN=G;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.7955,A/0.2045;Gene=F11R/NM_016946.4/1;CC=c.-43C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:99:50:0:0:98,1:3247,9:369.65,0.00:117.16,0.00:252.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,128.0:0,0:0,0:100,108:44,34:23,0:NM_016946.4(F11R) c.-43C>T,NM_016946.4(F11R) c.-43C>T:0.25,0.25:0.23666,0.23666 1 161007326 rs4339888 G C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8275,C/0.1725;PC=0.360 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:207:23.56:23.56:0.00:1.00:1.00:0.00:60:34.5:0:0:49:102:16:chr1 g.161007325G>C (intergenic),chr1 g.161007325G>C (intergenic):0.22,0.22:NOT_FOUND,NOT_FOUND 1 161007866 . C . . NT END=161008340;NT GT ./. 1 161008485 . C . . NT END=161008669;NT GT ./. 1 161008746 . C . . NT END=161009709;NT GT ./. 1 161009523 rs3737787 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=in-clinvar;PAF=G/0.8297,A/0.1703;Gene=USF1/NM_001276373.1/0;CC=c.*187C>T;VC=3UTR;Gene=USF1/NM_007122.4/1;CC=c.*187C>T;VC=3UTR;Gene=USF1/NM_207005.2/0;CC=c.*187C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,G:11:11:0:0:7,4:233,119:23.51,0.00:23.51,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.7,57.2:0,0:0,0:31,44:120,105:24,21:NM_007122.3(USF1) c.*187C>T,-:0.22,-:NOT_FOUND,- 1 161009800 . C . . NT END=161009991;NT GT ./. 1 161010121 . C . . NT END=161010365;NT GT ./. 1 161010461 . C . . NT END=161010603;NT GT ./. 1 161010663 . C . . NT END=161011113;NT GT ./. 1 161010762 rs2073658 C T 56 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=C/0.8289,T/0.1711;PC=0.195;Gene=USF1/NM_001276373.1/0;CC=c.561-100G>A;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.561-100G>A;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.384-100G>A;VC=Intron;DM=USF1/HLH;DM=USF1/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:10:0:0:21,19:708,585:0.00,55.52:0.00,7.14:0.00,48.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.4,79.2:0,0:0,0:115,124:36,26:27,15:-,NM_007122.3(USF1) c.561-100G>A:-,0.22:-,NOT_FOUND 1 161010774 rs2516841 A G 122 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.2187,G/0.7813;Gene=USF1/NM_001276373.1/0;CC=c.561-112T>C;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.561-112T>C;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.384-112T>C;VC=Intron;DM=USF1/HLH;DM=USF1/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:6:0:0:33:1060:121.73:18.13:103.60:1.00:1.00:1.00:60:72.0:0:0:127:24:19:NM_007122.3(USF1) c.561-112T>C,NM_007122.3(USF1) c.561-112T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 161010791 rs2073657 C T 76 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6362,T/0.3638;PC=0.017;Gene=USF1/NM_001276373.1/0;CC=c.561-129G>A;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.561-129G>A;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.384-129G>A;VC=Intron;DM=USF1/HLH;DM=USF1/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:2:0:0:21:656:75.51:5.08:70.43:1.00:1.00:1.00:60:75.7:0:0:89:62:29:NM_007122.3(USF1) c.561-129G>A,NM_007122.3(USF1) c.561-129G>A:0.4,0.4:NOT_FOUND,NOT_FOUND 1 161011051 . CA C 20 idl,rn VT=DEL;SST=Single;DP=28;PC=0.105;Gene=USF1/NM_001276373.1/0;CC=c.560+62delT;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.560+62delT;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.383+62delT;VC=Intron;DM=USF1/HLH;DM=USF1/HLH;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:22:27:0:13:15,7:465,416:0.00,20.26:0.00,20.39:0.00,-0.13:0.00,0.96:0.00,1.00:0.00,0.50:60,60:38.0,55.1:0,6:0,0:83,31:65,110:44,20:-,NM_007122.3(USF1) c.560+62delT:-,NOT_FOUND:-,NOT_FOUND 1 161011202 . C . . NT END=161011440;NT GT ./. 1 161011317 rs2516840 A G 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.224,G/0.776;Gene=USF1/NM_001276373.1/0;CC=c.473-116T>C;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.473-116T>C;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.296-116T>C;VC=Intron;DM=USF1/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:25:0:0:26,20:864,608:0.00,56.65:0.00,32.10:0.00,24.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.5,53.0:0,0:0,0:66,68:84,82:21,44:-,NM_007122.3(USF1) c.473-116T>C:-,0.79:-,NOT_FOUND 1 161011355 rs2073656 G C 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.8289,C/0.1711;PC=0.001;Gene=USF1/NM_001276373.1/0;CC=c.472+86C>G;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.472+86C>G;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.295+86C>G;VC=Intron;DM=USF1/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:56:37:0:0:1,19,36:11,635,1121:-0.08,57.20,0.00:-0.18,41.47,0.00:0.10,15.73,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:68.0,55.5,13.1:0,0,0:0,0,0:7,62,76:144,87,74:0,26,42:NM_007122.3(USF1) c.472+86C>G,-:0.22,-:NOT_FOUND,- 1 161011637 . C . . NT END=161011905;NT GT ./. 1 161011716 rs2774276 G C 158 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.2185,C/0.7815;Gene=USF1/NM_001276373.1/0;CC=c.277-80C>G;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.277-80C>G;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.100-80C>G;VC=Intron;DM=USF1/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:21:0:0:43:1374:157.84:63.38:94.46:1.00:1.00:1.00:60:49.0:0:0:88:60:39:NM_007122.3(USF1) c.277-80C>G,NM_007122.3(USF1) c.277-80C>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 161012008 . C . . NT END=161012344;NT GT ./. 1 161012461 . C . . NT END=161012622;NT GT ./. 1 161012590 rs2073655 G A 98 nt VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.8229,A/0.1771;PC=0.666;Gene=USF1/NM_001276373.1/0;CC=c.58+33C>T;VC=Intron;Gene=USF1/NM_007122.4/1;CC=c.58+33C>T;VC=Intron;Gene=USF1/NM_207005.2/0;CC=c.-89+33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:79:40:0:0:34,2,43:1047,20,1328:97.95,-0.04,0.00:40.78,-0.19,0.00:57.16,0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.0,67.5,9.7:0,0,0:0,0,0:63,89,76:87,56,75:30,0,39:NM_007122.3(USF1) c.58+33C>T,-:0.22,-:0.205213,- 1 161012673 . C . . NT END=161013057;NT GT ./. 1 161013066 . C . . NT END=161017504;NT GT ./. 1 161013121 rs2516839 C T 248 nt VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.6032,T/0.3968;PC=0.511;Gene=USF1/NM_001276373.1/0;CC=c.-56G>A;VC=5UTR;Gene=USF1/NM_007122.4/1;CC=c.-56G>A;VC=5UTR;Gene=USF1/NM_207005.2/0;CC=c.-202G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:26:0:0:68:2161:248.44:66.41:182.04:1.00:1.00:1.00:60:39.7:0:0:90:58:37:NM_007122.3(USF1) c.-56G>A,NM_007122.3(USF1) c.-56G>A:0.43,0.43:0.507884,0.507884 1 161017556 rs2774279 C T 104 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.7817,T/0.2183;PC=0.002;Gene=ARHGAP30/NM_001025598.1/0;CC=c.3255G>A;ProtCh=p.R1085=;VC=Silent;Gene=ARHGAP30/NM_001287600.1/0;CC=c.2811G>A;ProtCh=p.R937=;VC=Silent;Gene=ARHGAP30/NM_001287602.1/0;CC=c.2724G>A;ProtCh=p.R908=;VC=Silent;Gene=ARHGAP30/NM_181720.2/1;CC=c.2622G>A;ProtCh=p.R874=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:52:0:0:40,35:1315,1100:0.00,104.14:0.00,61.21:0.00,42.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,36.8:0,0:0,0:71,70:75,76:38,37:-,NM_001025598.1(ARHGAP30) c.3255G>A (p.(=)):-,0.21:-,0.284638 1 161019040 rs3813609 G C 488 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.604,C/0.396,T/.;PC=0.983;Gene=ARHGAP30/NM_001025598.1/0;CC=c.1771C>G;ProtCh=p.L591V;VC=Missense;Gene=ARHGAP30/NM_001287600.1/0;CC=c.1327C>G;ProtCh=p.L443V;VC=Missense;Gene=ARHGAP30/NM_001287602.1/0;CC=c.1240C>G;ProtCh=p.L414V;VC=Missense;Gene=ARHGAP30/NM_181720.2/1;CC=c.1771C>G;ProtCh=p.L591V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:137:83:0:0:135,1,1:4255,6,8:487.93,0.00,0.04:233.32,0.00,0.04:254.61,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,59,60:40.2,158.0,198.0:0,0,0:0,0,0:89,109,62:62,3,87:28,0,0:NM_001025598.1(ARHGAP30) c.1771C>G (p.Leu591Val),NM_001025598.1(ARHGAP30) c.1771C>G (p.Leu591Val):0.43,0.43:0.490543,0.490543 1 161019125 . C . . NT END=161019213;NT GT ./. 1 161019480 . C . . NT END=161021103;NT GT ./. 1 161019621 rs11588189 C T 62 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7819,T/0.2181;Gene=ARHGAP30/NM_001025598.1/0;CC=c.1421-142G>A;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.977-142G>A;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.890-142G>A;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.1421-142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:0:0:0:10,19:275,610:0.00,62.04:0.00,0.00:0.00,62.04:0.00,1.00:0.00,0.00:0.00,1.00:60,60:22.5,40.5:0,0:0,0:105,115:46,31:28,24:-,NM_001025598.1(ARHGAP30) c.1421-142G>A:-,0.21:-,NOT_FOUND 1 161020997 rs55728374 C T 77 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.8279,T/0.1721;PC=0.001;Gene=ARHGAP30/NM_001025598.1/0;CC=c.1420+107G>A;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.976+107G>A;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.889+107G>A;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.1420+107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:45:0:0:25,24:755,802:0.00,76.91:0.00,59.06:0.00,17.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,43.3:0,0:0,0:39,49:111,102:18,18:-,NM_001025598.1(ARHGAP30) c.1420+107G>A:-,0.22:-,NOT_FOUND 1 161021506 . C . . NT END=161022075;NT GT ./. 1 161021845 rs4993172 C A 53 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.1108,A/0.8892;PC=0.002;Gene=ARHGAP30/NM_001025598.1/0;CC=c.1018+231G>T;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.574+231G>T;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.487+231G>T;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.1018+231G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:A,I:18:7:1:0:17,1:458,33:53.36,2.53:22.01,0.00:31.34,2.53:1.00,0.00:1.00,0.00:1.00,0.00:60,33:75.0,0.0:0,0:0,0:40,66:110,53:15,0:NM_001025598.1(ARHGAP30) c.1018+231G>T,NM_001025598.1(ARHGAP30) c.1018+231G>T:0.8,0.8:NOT_FOUND,NOT_FOUND 1 161021893 rs12749496 G C 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.2602,C/0.7398;Gene=ARHGAP30/NM_001025598.1/0;CC=c.1018+183C>G;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.574+183C>G;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.487+183C>G;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.1018+183C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A,C:25:15:0:0:1,24:20,777:1.11,88.69:1.11,51.62:0.00,37.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:187.0,65.8:0,0:0,0:84,64:49,86:0,28:NM_001025598.1(ARHGAP30) c.1018+183C>G,NM_001025598.1(ARHGAP30) c.1018+183C>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 161022154 . C . . NT END=161022229;NT GT ./. 1 161022334 . C . . NT END=161022415;NT GT ./. 1 161022380 rs4396136 G A 358 nt VT=SNV;PN=C;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.2171,A/0.7829;Gene=ARHGAP30/NM_001025598.1/0;CC=c.836+36C>T;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.392+36C>T;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.305+36C>T;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.836+36C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:94:63:0:0:94:3137:358.48:194.01:164.47:1.00:1.00:1.00:60:42.1:0:0:47:101:37:NM_001025598.1(ARHGAP30) c.836+36C>T,NM_001025598.1(ARHGAP30) c.836+36C>T:0.79,0.79:0.812164,0.812164 1 161022588 . C . . NT END=161023047;NT GT ./. 1 161022639 rs3813610 C G 262 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=ARHGAP30/NM_001025598.1/0;CC=c.665-52G>C;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.221-52G>C;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.134-52G>C;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.665-52G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G,T:71:28:0:0:70,1:2293,22:262.22,0.88:65.97,0.00:196.24,0.88:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,92.0:0,0:0,0:97,22:48,129:31,0:NM_001025598.1(ARHGAP30) c.665-52G>C,NM_001025598.1(ARHGAP30) c.665-52G>C:0.43,0.43:0.489274,0.489274 1 161023176 . C . . NT END=161024155;NT GT ./. 1 161023252 rs57196073 T TTC 11 idl,rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=2;Gene=ARHGAP30/NM_001025598.1/0;CC=c.537-78_537-77insGA;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.93-78_93-77insGA;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.6-78_6-77insGA;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.537-78_537-77insGA;VC=Intron;DM=ARHGAP30/RhoGAP;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T,TTC:38:18:8:2:1,31,6:21,908,201:0.67,0.00,11.16:-0.14,0.00,-0.91:0.82,0.00,12.07:0.00,0.00,0.88:0.00,0.00,0.89:0.00,0.00,0.98:60,60,60:109.0,16.9,70.3:1,0,2:0,0,0:36,126,62:115,24,84:0,13,15:-,NM_001025598.1(ARHGAP30) c.537-78_537-77insGA:-,NOT_FOUND:-,NOT_FOUND 1 161023353 rs3829791 T C 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.604,C/0.396;PC=0.019;Gene=ARHGAP30/NM_001025598.1/0;CC=c.537-178A>G;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.93-178A>G;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.6-178A>G;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.537-178A>G;VC=Intron;DM=ARHGAP30/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:459:52.99:0.00:52.99:1.00:0.00:1.00:60:46.1:0:0:112:37:15:NM_001025598.1(ARHGAP30) c.537-178A>G,NM_001025598.1(ARHGAP30) c.537-178A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 161024264 . C . . NT END=161024412;NT GT ./. 1 161024496 . C . . NT END=161026177;NT GT ./. 1 161024782 rs12728349 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.597,T/0.403;Gene=ARHGAP30/NM_001025598.1/0;CC=c.346-287G>A;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.-99-287G>A;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.6-1607G>A;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.346-287G>A;VC=Intron;DM=ARHGAP30/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:178:21.08:0.00:21.08:1.00:0.00:1.00:60:82.7:0:0:97:54:25:NM_001025598.1(ARHGAP30) c.346-287G>A,NM_001025598.1(ARHGAP30) c.346-287G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 161024822 rs12748157 A C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ARHGAP30/NM_001025598.1/0;CC=c.346-327T>G;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.-99-327T>G;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.6-1647T>G;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.346-327T>G;VC=Intron;DM=ARHGAP30/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:130:15.35:0.00:15.35:1.00:0.00:1.00:60:105.4:0:0:112:37:25:NM_001025598.1(ARHGAP30) c.346-327T>G,NM_001025598.1(ARHGAP30) c.346-327T>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 161026323 . C . . NT END=161029403;NT GT ./. 1 161026490 rs12130871 A G 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7692,G/0.2308;Gene=ARHGAP30/NM_001025598.1/0;CC=c.201-168T>C;VC=Intron;Gene=ARHGAP30/NM_001287600.1/0;CC=c.-99-1995T>C;VC=Intron;Gene=ARHGAP30/NM_001287602.1/0;CC=c.6-3315T>C;VC=Intron;Gene=ARHGAP30/NM_181720.2/1;CC=c.201-168T>C;VC=Intron;DM=ARHGAP30/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:0:0:0:12,16:340,517:0.00,51.05:0.00,0.00:0.00,51.05:0.00,1.00:0.00,0.00:0.00,1.00:60,60:32.0,37.2:0,0:0,0:120,85:29,65:22,35:-,NM_001025598.1(ARHGAP30) c.201-168T>C:-,0.22:-,NOT_FOUND 1 161029507 . C . . NT END=161039317;NT GT ./. 1 161039415 . G . . NT END=161042450;NT GT ./. 1 161042676 . C . . NT END=161043014;NT GT ./. 1 161043090 . C . . NT END=161043509;NT GT ./. 1 161043586 . C . . NT END=161044006;NT GT ./. 1 161043735 rs4656285 A C 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.2658,C/0.7342;Gene=PVRL4/NM_030916.2/1;CC=c.1158-150T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:5:0:0:20:610:70.53:19.18:51.35:1.00:1.00:1.00:60:70.4:0:0:82:69:24:NM_030916.2(PVRL4) c.1158-150T>G,NM_030916.2(PVRL4) c.1158-150T>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 161043764 rs4656978 G A 72 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2748,A/0.7252;Gene=PVRL4/NM_030916.2/1;CC=c.1158-179C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:9:0:0:20:622:71.69:33.09:38.60:1.00:1.00:1.00:60:72.7:0:0:89:61:27:NM_030916.2(PVRL4) c.1158-179C>T,NM_030916.2(PVRL4) c.1158-179C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 161044167 . C . . NT END=161044400;NT GT ./. 1 161044550 . C . . NT END=161046144;NT GT ./. 1 161046266 . C . . NT END=161047242;NT GT ./. 1 161047125 rs60601836 CTATA C 67 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CTATA/0.2224,C/0.7776;DB;DBA=NA;PAF=CTATA/0.2224,C/0.7776;NP=2864;Gene=PVRL4/NM_030916.2/1;CC=c.730+114_730+117delTATA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:CTATA,C:20:20:0:19:1,19:29,598:0.00,67.13:0.00,67.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:25.0,8.5:0,0:0,0:127,35:2,114:0,22:NM_030916.2(PVRL4) c.730+114_730+117delTATA,NM_030916.2(PVRL4) c.730+114_730+117delTATA:0.76,0.76:NOT_FOUND,NOT_FOUND 1 161047534 . C . . NT END=161049379;NT GT ./. 1 161049358 rs3820097 G A 441 nt VT=SNV;PN=C;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.1394,A/0.8606;Gene=PVRL4/NM_030916.2/1;CC=c.439+22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:117:103:0:0:117:3848:440.53:303.13:137.40:1.00:1.00:1.00:60:39.6:0:0:50:92:29:NM_030916.2(PVRL4) c.439+22C>T,NM_030916.2(PVRL4) c.439+22C>T:0.86,0.86:0.927472,0.927472 1 161049509 rs35434391 G T 271 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=184;DB;DBA=NA;PAF=G/0.9615,T/0.03854;PC=0.983;Gene=PVRL4/NM_030916.2/1;CC=c.310C>A;ProtCh=p.P104T;VC=Missense;DM=PVRL4/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:184:128:0:0:94,90:2918,2834:0.00,270.94:0.00,131.43:0.00,139.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,37.8:0,0:0,0:77,69:65,78:25,28:-,NM_030916.2(PVRL4) c.310C>A (p.Pro104Thr):-,0.06:-,0.074619 1 161049740 . C . . NT END=161059007;NT GT ./. 1 161059087 . G . . NT END=161068325;NT GT ./. 1 161068240 rs3813611 G A 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.656,A/0.344;Gene=KLHDC9/NR_033385.1/0;VC=NonCoding;Gene=KLHDC9/NR_033386.1/0;VC=NonCoding;Gene=KLHDC9/NM_001007255.2/1;CC=c.-86G>A;VC=5UTR;Gene=KLHDC9/NM_152366.4/0;CC=c.-86G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:41:0:0:16,28:467,917:41.78,0.00:34.96,0.00:6.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,5.4:0,0:0,0:53,43:97,108:17,24:NM_152366.4(KLHDC9) c.-86G>A,-:0.38,-:NOT_FOUND,- 1 161068836 rs11576830 A C 168 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.7608,C/0.2392;Gene=KLHDC9/NR_033385.1/0;VC=NonCoding;Gene=KLHDC9/NR_033386.1/0;VC=NonCoding;Gene=KLHDC9/NM_001007255.2/1;CC=c.511A>C;ProtCh=p.S171R;VC=Missense;Gene=KLHDC9/NM_152366.4/0;CC=c.511A>C;ProtCh=p.S171R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:113:45:0:0:55,57,1:1784,1745,33:0.00,167.93,1.52:0.00,41.49,-0.05:0.00,126.44,1.58:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:17.5,37.3,33.0:0,0,0:0,0,0:76,105,121:67,43,30:30,31,0:-,NM_152366.4(KLHDC9) c.511A>C (p.Ser171Arg):-,0.29:-,0.218026 1 161068853 . G . . NT END=161069135;NT GT ./. 1 161069296 . G . . NT END=161069368;NT GT ./. 1 161069587 . G . . NT END=161069850;NT GT ./. 1 161070015 . A . . NT END=161070472;NT GT ./. 1 161070650 . C . . NT END=161071837;NT GT ./. 1 161071962 . C . . NT END=161072076;NT GT ./. 1 161072166 . C . . NT END=161087741;NT GT ./. 1 161087611 rs75993552 G A 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.9972,A/0.002796;NP=10;PC=0.002;Gene=PFDN2/NM_012394.3/1;CC=c.75+131C>T;VC=Intron;DM=PFDN2/Prefoldin_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:19:0:0:8,11:241,319:22.31,0.00:22.31,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:56.1,1.4:0,0:0,0:87,29:63,122:44,16:NM_012394.3(PFDN2) c.75+131C>T,-:0.01,-:NOT_FOUND,- 1 161087817 . C . . NT END=161087946;NT GT ./. 1 161088342 . G . . NT END=161088575;NT GT ./. 1 161088672 . G . . NT END=161088923;NT GT ./. 1 161089179 . G . . NT END=161089298;NT GT ./. 1 161089403 . G . . NT END=161089608;NT GT ./. 1 161089450 rs114579868 C CTAAACT 55 nt VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.6428,CTAAACT/0.3572;DB;DBA=NA;PAF=NA;NP=12;Gene=NIT1/NM_005600.2/0;CC=c.457+50_457+51insAACTTA;VC=Intron;Gene=NIT1/NM_001185092.1/0;CC=c.457+50_457+51insAACTTA;VC=Intron;Gene=NIT1/NM_001185093.1/0;CC=c.412+50_412+51insAACTTA;VC=Intron;Gene=NIT1/NM_001185094.1/1;CC=c.349+50_349+51insAACTTA;VC=Intron;DM=NIT1/CN_hydrolase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTAAACT:50:23:19:0:27,4,19:791,79,599:0.00,4.58,55.40:0.00,1.75,20.62:0.00,2.83,34.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.4,78.8,6.3:0,0,0:0,0,0:97,19,108:52,124,43:46,17,23:-,NM_005600.2(NIT1) c.457+48_457+49insTAAACT:-,NOT_FOUND:-,0.334052 1 161089743 . G . . NT END=161089896;NT GT ./. 1 161090023 . G . . NT END=161090288;NT GT ./. 1 161090985 . G . . NT END=161091936;NT GT ./. 1 161091814 rs397804763 T TA 18 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=26;PC=0.881;Gene=NIT1/NM_001185092.1/0;CC=c.717+1809dupA;VC=Intron;Gene=DEDD/NM_001039712.1/0;CC=c.*122dupT;VC=3UTR;Gene=DEDD/NM_001039711.1/0;CC=c.*122dupT;VC=3UTR;Gene=DEDD/NM_032998.2/1;CC=c.*122dupT;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TA,D:29:29:7:6:17,7,5:467,213,189:0.00,18.27,12.76:0.00,16.48,12.80:0.00,1.79,-0.04:0.00,0.95,0.00:0.00,1.00,0.00:0.00,0.51,0.00:60,70,60:26.6,36.3,37.8:0,0,1:0,0,0:61,36,69:90,112,81:41,17,18:-,NM_032998.2(DEDD) c.*122dupT:-,NOT_FOUND:-,NOT_FOUND 1 161092314 . C . . NT END=161092774;NT GT ./. 1 161093012 . C . . NT END=161093628;NT GT ./. 1 161093737 . C . . NT END=161093927;NT GT ./. 1 161093946 . G . . NT END=161123787;NT GT ./. 1 161123911 . G . . NT END=161126739;NT GT ./. 1 161126808 . G . . NT END=161127043;NT GT ./. 1 161126975 rs12031437 C G 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.6454,G/0.3546;PC=0.769;Gene=UFC1/NM_016406.3/1;CC=c.192-69C>G;VC=Intron;DM=UFC1/UFC1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:62:42:0:0:36,26:1206,804:0.00,74.41:0.00,46.37:0.00,28.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,36.0:0,0:0,0:50,91:101,60:28,38:-,NM_016406.3(UFC1) c.192-69C>G:-,0.38:-,0.348883 1 161127108 . G . . NT END=161127406;NT GT ./. 1 161127484 . G . . NT END=161127910;NT GT ./. 1 161128002 . G . . NT END=161128201;NT GT ./. 1 161128283 . A . . NT END=161130430;NT GT ./. 1 161131024 rs149224884 C T 89 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=1;PC=1.000;Gene=USP21/NM_001014443.2/1;CC=c.594C>T;ProtCh=p.D198=;VC=Silent;Gene=USP21/NM_012475.4/0;CC=c.594C>T;ProtCh=p.D198=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:36:0:0:33,31:1140,935:0.00,89.00:0.00,20.83:0.00,68.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,46.8:0,0:0,0:91,96:57,54:36,40:-,NM_001014443.2(USP21) c.594C>T (p.(=)):-,NOT_FOUND:-,0.000384 1 161131031 . G . . NT END=161131827;NT GT ./. 1 161131888 . G . . NT END=161132059;NT GT ./. 1 161132181 . G . . NT END=161132404;NT GT ./. 1 161132517 . G . . NT END=161132708;NT GT ./. 1 161132865 . G . . NT END=161133344;NT GT ./. 1 161133410 . G . . NT END=161133667;NT GT ./. 1 161133772 . G . . NT END=161133953;NT GT ./. 1 161134041 . G . . NT END=161134323;NT GT ./. 1 161134733 . G . . NT END=161134818;NT GT ./. 1 161134934 . G . . NT END=161135146;NT GT ./. 1 161135238 . C . . NT END=161135857;NT GT ./. 1 161135964 . G . . NT END=161136180;NT GT ./. 1 161136224 rs2301286 C A 150 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.6408,A/0.3592;Gene=PPOX/NM_000309.3/0;CC=c.-186C>A;VC=5UTR;Gene=PPOX/NM_001122764.1/1;CC=c.-247C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:105:87:0:0:49,54,2:1575,1725,20:149.95,0.00,-0.09:91.64,0.00,0.07:58.31,0.00,-0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.0,7.2,106.5:0,0,0:0,0,0:71,69,79:74,73,71:35,35,57:NM_001122764.1(PPOX) c.-247C>A,-:0.38,-:NOT_FOUND,- 1 161136343 rs72714915 C G 187 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=C/0.9782,G/0.02177;PC=0.222;Gene=PPOX/NM_000309.3/0;CC=c.-67C>G;VC=5UTR;Gene=PPOX/NM_001122764.1/1;CC=c.-128C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:149:88:0:0:85,63,1:2863,2010,11:0.00,187.16,-0.17:0.00,70.26,-0.12:0.00,116.90,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.6,46.5,220.0:0,0,0:0,0,0:73,74,23:65,77,114:39,35,0:-,NM_001122764.1(PPOX) c.-128C>G:-,0.04:-,NOT_FOUND 1 161136463 . G . . NT END=161136629;NT GT ./. 1 161136726 . T . . NT END=161136889;NT GT ./. 1 161136843 rs2301287 C G 169 nt VT=SNV;PN=G;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.6466,G/0.3534,T/.;Gene=PPOX/NM_000309.3/0;CC=c.88-47C>G;VC=Intron;Gene=PPOX/NM_001122764.1/1;CC=c.88-47C>G;VC=Intron;DM=PPOX/Amino_oxidase;DM=PPOX/NAD_binding_8;DM=PPOX/NAD_binding_8;DM=PPOX/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:97:71:0:0:43,54:1463,1720:0.00,168.72:0.00,100.16:0.00,68.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,49.9:0,0:0,0:74,35:77,105:26,26:-,NM_001122764.1(PPOX) c.88-47C>G:-,0.38:-,0.341842 1 161137278 . T . . NT END=161137784;NT GT ./. 1 161137347 rs397731347 CT C 9 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=PPOX/NM_000309.3/0;CC=c.338+98delT;VC=Intron;Gene=PPOX/NM_001122764.1/1;CC=c.338+98delT;VC=Intron;DM=PPOX/Amino_oxidase;DM=PPOX/Amino_oxidase;DM=PPOX/Amino_oxidase;DM=PPOX/Amino_oxidase;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:CT,T,I,C:35:18:3:11:27,2,2,4:811,50,88,299:0.00,2.80,3.65,8.76:0.00,-0.27,-0.27,2.12:0.00,3.07,3.91,6.64:0.00,0.00,0.00,0.58:0.00,0.00,0.00,0.73:0.00,0.00,0.00,0.89:60,60,60,60:14.0,176.5,120.0,105.2:0,0,1,6:0,0,0,0:128,98,108,80:18,51,43,69:13,29,0,30:-,NM_001122764.1(PPOX) c.338+72delT:-,NOT_FOUND:-,NOT_FOUND 1 161137918 . G . . NT END=161138202;NT GT ./. 1 161138368 . T . . NT END=161138782;NT GT ./. 1 161138975 . T . . NT END=161139449;NT GT ./. 1 161139512 . T . . NT END=161139695;NT GT ./. 1 161139816 . T . . NT END=161140198;NT GT ./. 1 161139951 rs12741203 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7414,T/0.2586;PC=0.933;Gene=PPOX/NM_000309.3/0;CC=c.987+137C>T;VC=Intron;Gene=PPOX/NM_001122764.1/1;CC=c.987+137C>T;VC=Intron;DM=PPOX/Amino_oxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,T:24:3:0:0:18,6:524,178:0.00,14.81:0.00,2.93:0.00,11.88:0.00,0.92:0.00,0.61:0.00,0.99:60,60:9.7,34.3:0,0:0,0:85,106:65,44:27,23:-,NM_001122764.1(PPOX) c.987+137C>T:-,0.3:-,NOT_FOUND 1 161140311 . T . . NT END=161140409;NT GT ./. 1 161140561 . T . . NT END=161140696;NT GT ./. 1 161140740 . G . . NT END=161140823;NT GT ./. 1 161141011 . T . . NT END=161141605;NT GT ./. 1 161141432 rs6779 C G 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.772,G/0.228;PC=0.009;Gene=B4GALT3/NM_001199873.1/0;CC=c.*174G>C;VC=3UTR;Gene=B4GALT3/NM_001199874.1/0;CC=c.*174G>C;VC=3UTR;Gene=B4GALT3/NM_003779.3/1;CC=c.*174G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G:12:12:0:0:9,3:294,108:0.00,9.30:0.00,9.30:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:7.2,36.0:0,0:0,0:51,50:99,99:19,3:-,NM_003779.3(B4GALT3) c.*174G>C:-,0.28:-,NOT_FOUND 1 161141880 . C . . NT END=161142016;NT GT ./. 1 161142122 . C . . NT END=161143394;NT GT ./. 1 161142230 rs397863843 GA G 36 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=592;Gene=B4GALT3/NM_001199873.1/0;CC=c.804-110delT;VC=Intron;Gene=B4GALT3/NM_001199874.1/0;CC=c.804-110delT;VC=Intron;Gene=B4GALT3/NM_003779.3/1;CC=c.804-110delT;VC=Intron;DM=B4GALT3/Glyco_transf_7C;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:25:1:0:12:13,12:398,378:0.00,36.02:0.00,-0.28:0.00,36.31:0.00,1.00:0.00,0.65:0.00,1.00:60,60:44.9,9.1:0,0:0,0:114,110:37,40:19,24:-,NM_003779.3(B4GALT3) c.804-110delT:-,NOT_FOUND:-,NOT_FOUND 1 161143312 rs11579514 T C 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.7462,C/0.2538;Gene=B4GALT3/NM_001199873.1/0;CC=c.803+83A>G;VC=Intron;Gene=B4GALT3/NM_001199874.1/0;CC=c.803+83A>G;VC=Intron;Gene=B4GALT3/NM_003779.3/1;CC=c.803+83A>G;VC=Intron;DM=B4GALT3/Glyco_transf_7C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:47:0:0:21,33:730,1002:67.35,0.00:47.96,0.00:19.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,4.8:0,0:0,0:42,35:103,114:26,26:NM_003779.3(B4GALT3) c.803+83A>G,-:0.3,-:NOT_FOUND,- 1 161143518 . C . . NT END=161143648;NT GT ./. 1 161143840 . C . . NT END=161144782;NT GT ./. 1 161143919 rs112810680 C T 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.9688,T/0.03115;Gene=B4GALT3/NM_001199873.1/0;CC=c.490-80G>A;VC=Intron;Gene=B4GALT3/NM_001199874.1/0;CC=c.490-80G>A;VC=Intron;Gene=B4GALT3/NM_003779.3/1;CC=c.490-80G>A;VC=Intron;DM=B4GALT3/Glyco_transf_7N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:7:0:0:18,23:512,667:0.00,65.53:0.00,5.53:0.00,60.00:0.00,1.00:0.00,0.99:0.00,1.00:60,60:8.3,47.9:0,0:0,0:109,128:41,23:31,15:-,NM_003779.3(B4GALT3) c.490-80G>A:-,0.05:-,NOT_FOUND 1 161143969 rs11265561 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.6462,G/0.3538;Gene=B4GALT3/NM_001199873.1/0;CC=c.490-130T>C;VC=Intron;Gene=B4GALT3/NM_001199874.1/0;CC=c.490-130T>C;VC=Intron;Gene=B4GALT3/NM_003779.3/1;CC=c.490-130T>C;VC=Intron;DM=B4GALT3/Glyco_transf_7N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:0:0:0:10,9:312,270:0.00,25.58:0.00,0.00:0.00,25.58:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.9,72.3:0,0:0,0:82,106:68,45:22,28:-,NM_003779.3(B4GALT3) c.490-130T>C:-,0.38:-,NOT_FOUND 1 161145019 . C . . NT END=161145597;NT GT ./. 1 161145851 . C . . NT END=161146638;NT GT ./. 1 161146874 . G . . NT END=161160927;NT GT ./. 1 161161355 . C . . NT END=161161854;NT GT ./. 1 161162031 . C . . NT END=161163002;NT GT ./. 1 161162173 rs7512012 G A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.2913,A/0.7087;Gene=ADAMTS4/NM_005099.4/1;CC=c.1912-143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:0:0:0:9,14:268,397:24.41,0.00:0.00,0.00:24.41,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.1,3.5:0,0:0,0:123,90:28,60:22,20:NM_005099.4(ADAMTS4) c.1912-143C>T,-:0.69,-:NOT_FOUND,- 1 161163037 rs4233367 T C 160 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.2931,C/0.7069;Gene=ADAMTS4/NM_005099.4/1;CC=c.1877A>G;ProtCh=p.Q626R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:101:80:0:0:55,46:1645,1548:160.29,0.00:95.76,0.00:64.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,7.1:0,0:0,0:64,61:79,85:36,34:NM_005099.4(ADAMTS4) c.1877A>G (p.Gln626Arg),-:0.69,-:0.602799,- 1 161163179 . C . . NT END=161163429;NT GT ./. 1 161163617 . C . . NT END=161163724;NT GT ./. 1 161163633 rs3813622 C T 155 nt VT=SNV;PN=A;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.2975,A/.,G/.,T/0.7025;Gene=ADAMTS4/NM_005099.4/1;CC=c.1549-17G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:126:68:0:0:74,52:2330,1677:0.00,155.42:0.00,40.85:0.00,114.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,40.2:0,0:0,0:88,88:56,60:34,27:-,NM_005099.4(ADAMTS4) c.1549-17G>A:-,0.68:-,0.587267 1 161164012 . C . . NT END=161165254;NT GT ./. 1 161164166 rs11265564 A G 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2853,G/0.7147;Gene=ADAMTS4/NM_005099.4/1;CC=c.1262-155T>C;VC=Intron;DM=ADAMTS4/Reprolysin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,G:16:0:0:0:6,10:186,313:0.00,31.44:0.00,0.00:0.00,31.44:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.2,34.2:0,0:0,0:123,93:28,58:15,27:-,NM_005099.4(ADAMTS4) c.1262-155T>C:-,0.7:-,NOT_FOUND 1 161165426 . C . . NT END=161165960;NT GT ./. 1 161165724 rs59948581 G GAC 18 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;Gene=ADAMTS4/NM_005099.4/1;CC=c.1090+236_1090+237insGT;VC=Intron;DM=ADAMTS4/Reprolysin;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:G,GAC,D:16:12:6:3:8,6,2:229,193,100:0.00,17.94,5.26:0.00,13.67,5.43:0.00,4.27,-0.16:0.00,0.95,0.00:0.00,0.99,0.00:0.00,0.91,0.00:60,60,60:16.8,4.7,63.5:0,0,1:0,0,0:91,55,23:59,92,126:39,27,18:-,NM_005099.4(ADAMTS4) c.1090+236_1090+237insGT:-,NOT_FOUND:-,NOT_FOUND 1 161166094 . C . . NT END=161166346;NT GT ./. 1 161166671 . C . . NT END=161167784;NT GT ./. 1 161167698 rs4589131 T G 117 nt VT=SNV;PN=G;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.2837,G/0.7163;PC=0.071;Gene=ADAMTS4/NM_005099.4/1;CC=c.633+87A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:74:68:0:0:38,36:1210,938:116.94,0.00:83.08,0.00:33.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.2,14.2:0,0:0,0:38,32:111,113:23,25:NM_005099.4(ADAMTS4) c.633+87A>C,-:0.7,-:NOT_FOUND,- 1 161168189 rs34448954 C T 182 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.9487,T/0.05132;Gene=ADAMTS4/NM_005099.4/1;CC=c.229G>A;ProtCh=p.A77T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:145:80:0:0:79,3,63:2405,31,1942:0.00,-0.11,181.93:0.00,-0.14,79.04:0.00,0.04,102.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.3,124.3,41.8:0,0,0:0,0,0:92,65,84:51,62,63:41,33,32:-,NM_005099.4(ADAMTS4) c.229G>A (p.Ala77Thr):-,0.05:-,0.070775 1 161168418 . G . . NT END=161172175;NT GT ./. 1 161172272 . T . . NT END=161173226;NT GT ./. 1 161173334 . G . . NT END=161176196;NT GT ./. 1 161176137 rs4656993 A G 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.2955,G/0.7045;PC=0.005;Gene=NDUFS2/NM_004550.4/1;CC=c.203-60A>G;VC=Intron;Gene=NDUFS2/NM_001166159.1/0;CC=c.203-60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:28:0:0:20,11:647,348:0.00,31.29:0.00,24.35:0.00,6.95:0.00,1.00:0.00,1.00:0.00,0.95:60,60:14.8,45.5:0,0:0,0:29,61:116,89:15,30:-,NM_004550.4(NDUFS2) c.203-60A>G:-,0.69:-,NOT_FOUND 1 161176389 . T . . NT END=161178982;NT GT ./. 1 161179105 . T . . NT END=161179272;NT GT ./. 1 161179387 . t . . NT END=161179646;NT GT ./. 1 161179723 . T . . NT END=161179900;NT GT ./. 1 161179980 . T . . NT END=161180093;NT GT ./. 1 161180181 . T . . NT END=161180380;NT GT ./. 1 161180502 . T . . NT END=161182140;NT GT ./. 1 161181960 . G GA 19 rn VT=INS;SST=Single;DP=23;PC=0.010;Gene=NDUFS2/NM_004550.4/1;CC=c.987-168dupA;VC=Intron;Gene=NDUFS2/NM_001166159.1/0;CC=c.987-168dupA;VC=Intron;DM=NDUFS2/Complex1_49kDa;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:23:23:7:2:14,7,2:475,218,29:0.00,19.32,1.26:0.00,19.40,1.28:0.00,-0.08,-0.02:0.00,0.97,0.00:0.00,0.97,0.00:0.00,0.54,0.00:60,60,60:4.1,3.7,89.5:0,0,0:0,0,0:19,16,59:131,134,90:17,14,41:-,NM_004550.4(NDUFS2) c.987-181_987-180insA:-,NOT_FOUND:-,NOT_FOUND 1 161182208 rs11576415 C G 162 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=124;DB;DBA=in-clinvar;PAF=C/0.9507,G/0.04932;PC=1.000;Gene=NDUFS2/NM_004550.4/1;CC=c.1054C>G;ProtCh=p.P352A;VC=Missense;Gene=NDUFS2/NM_001166159.1/0;CC=c.1054C>G;ProtCh=p.P352A;VC=Missense;DM=NDUFS2/Complex1_49kDa GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:124:93:0:0:69,55:2289,1733:0.00,162.47:0.00,83.41:0.00,79.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,46.3:0,0:0,0:79,54:70,91:29,30:-,NM_004550.4(NDUFS2) c.1054C>G (p.Pro352Ala):-,0.05:-,0.068661 1 161182272 . T . . NT END=161183169;NT GT ./. 1 161182484 rs2501876 A G 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1933,G/0.8067;PC=0.001;Gene=NDUFS2/NM_004550.4/1;CC=c.1116+214A>G;VC=Intron;Gene=NDUFS2/NM_001166159.1/0;CC=c.1116+214A>G;VC=Intron;DM=NDUFS2/Complex1_49kDa GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,G:14:1:0:0:5,9:170,272:0.00,27.51:0.00,1.84:0.00,25.67:0.00,1.00:0.00,0.76:0.00,1.00:60,60:4.2,40.4:0,0:0,0:129,102:19,49:16,43:-,NM_004550.4(NDUFS2) c.1116+214A>G:-,0.78:-,NOT_FOUND 1 161183267 . T . . NT END=161183438;NT GT ./. 1 161183524 . T . . NT END=161183653;NT GT ./. 1 161183985 . C . . NT END=161185111;NT GT ./. 1 161184875 rs11587213 A G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8544,G/0.1456;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:7:6:0:0:3,4:59,129:0.00,12.76:0.00,13.13:0.00,-0.37:0.00,0.99:0.00,0.99:0.00,0.71:60,60:51.7,35.5:0,0:0,0:40,21:111,129:17,14:-,NM_004106.1(FCER1G) c.-25-u212A>G:-,0.13:-,NOT_FOUND 1 161185161 . G . . NT END=161187775;NT GT ./. 1 161187868 . G . . NT END=161188030;NT GT ./. 1 161188067 . G . . NT END=161188492;NT GT ./. 1 161188514 . G . . NT END=161188670;NT GT ./. 1 161188587 rs11590967 G A 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.9848,A/0.01518;PC=0.153;Gene=FCER1G/NM_004106.1/1;CC=c.198+74G>A;VC=Intron;DM=FCER1G/ITAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:41:0:0:30,29:945,879:91.00,0.00:47.65,0.00:43.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,9.6:0,0:0,0:92,77:58,74:36,32:NM_004106.1(FCER1G) c.198+74G>A,-:0.02,-:0.036356,- 1 161188734 . C . . NT END=161192194;NT GT ./. 1 161188893 rs3557 T G 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9481,G/0.05192;PC=0.001;Gene=FCER1G/NM_004106.1/1;CC=c.*160T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:G,T:9:0:0:0:5,4:124,131:12.06,0.00:0.00,0.00:12.06,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:50.6,0.0:0,0:0,0:89,122:62,28:20,17:NM_004106.1(FCER1G) c.*160T>G,-:0.05,-:NOT_FOUND,- 1 161192313 . C . . NT END=161192707;NT GT ./. 1 161192316 rs6413453 G A 73 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.897,A/0.103;PC=0.984;Gene=APOA2/NM_001643.1/1;CC=c.186-4C>T;VC=Intron;DM=APOA2/ApoA-II;DM=APOA2/ApoA-II;DM=APOA2/ApoA-II;DM=APOA2/ApoA-II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:18:0:0:23,16:735,543:72.98,0.00:22.89,0.00:50.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,0.9:0,0:0,0:105,99:46,43:21,15:NM_001643.1(APOA2) c.186-4C>T,-:0.11,-:0.082193,- 1 161192841 . C . . NT END=161193139;NT GT ./. 1 161192845 . CCACACACACA C 215 idl,nt VT=DEL;SST=Single;DP=284;NP=13;Gene=APOA2/NM_001643.1/1;CC=c.53-15_53-6delTGTGTGTGTG;VC=Intron;DM=APOA2/ApoA-II;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CCACACACACA,I,C:257:190:2:114:2,171,2,82:23,5227,66,3243:-0.31,0.00,2.74,215.46:-0.24,0.00,3.02,123.86:-0.07,0.00,-0.28,91.59:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:45.5,13.4,42.5,14.7:0,1,0,27:0,0,0,0:21,87,14,64:130,52,135,84:16,31,3,21:-,NM_001643.1(APOA2) c.53-15_53-6delTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 161193192 . G . . NT END=161196279;NT GT ./. 1 161196166 rs3813628 A C 44 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6863,C/0.3137;PC=1.000;Gene=TOMM40L/NM_001286373.1/0;CC=c.-114A>C;VC=5UTR;Gene=TOMM40L/NM_001286374.1/0;CC=c.-114A>C;VC=5UTR;Gene=TOMM40L/NM_032174.5/1;CC=c.-114A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:27:27:0:0:12,14,1:397,454,9:0.00,44.27,0.04:0.00,44.43,0.05:0.00,-0.16,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.68,0.00:60,60,60:6.1,53.1,179.0:0,0,0:0,0,0:58,30,55:93,120,96:37,26,0:-,NM_032174.4(TOMM40L) c.-114A>C:-,0.34:-,NOT_FOUND 1 161196395 . G . . NT END=161196677;NT GT ./. 1 161196746 . G . . NT END=161197047;NT GT ./. 1 161197141 . G . . NT END=161197425;NT GT ./. 1 161197528 . G . . NT END=161197673;NT GT ./. 1 161197780 . G . . NT END=161197975;NT GT ./. 1 161198099 . G . . NT END=161198217;NT GT ./. 1 161198295 . G . . NT END=161198504;NT GT ./. 1 161198608 . G . . NT END=161198745;NT GT ./. 1 161198886 . G . . NT END=161199471;NT GT ./. 1 161199717 . C . . NT END=161200602;NT GT ./. 1 161200487 rs4073054 C A 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.2346,A/0.7654;Gene=TOMM40L/NM_001286373.1/0;CC=c.*1602C>A;VC=3UTR;Gene=TOMM40L/NM_001286374.1/0;CC=c.*1602C>A;VC=3UTR;Gene=TOMM40L/NM_032174.5/1;CC=c.*1602C>A;VC=3UTR;Gene=NR1I3/NM_001077469.2/0;CC=c.932+116G>T;VC=Intron;Gene=NR1I3/NM_001077470.2/0;CC=c.713+116G>T;VC=Intron;Gene=NR1I3/NM_001077471.2/0;CC=c.800+116G>T;VC=Intron;Gene=NR1I3/NM_001077472.2/0;CC=c.845+116G>T;VC=Intron;Gene=NR1I3/NM_001077473.2/0;CC=c.857+116G>T;VC=Intron;Gene=NR1I3/NM_001077474.2/0;CC=c.800+116G>T;VC=Intron;Gene=NR1I3/NM_001077475.2/0;CC=c.713+116G>T;VC=Intron;Gene=NR1I3/NM_001077476.2/0;CC=c.845+116G>T;VC=Intron;Gene=NR1I3/NM_001077477.2/0;CC=c.830+116G>T;VC=Intron;Gene=NR1I3/NM_001077478.2/0;CC=c.929+116G>T;VC=Intron;Gene=NR1I3/NM_001077479.2/0;CC=c.830+116G>T;VC=Intron;Gene=NR1I3/NM_001077480.2/0;CC=c.929+116G>T;VC=Intron;Gene=NR1I3/NM_001077481.2/0;CC=c.815+116G>T;VC=Intron;Gene=NR1I3/NM_001077482.2/1;CC=c.944+116G>T;VC=Intron;Gene=NR1I3/NM_005122.4/0;CC=c.917+116G>T;VC=Intron;DM=NR1I3/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:46:44:0:0:27,19:871,618:86.48,0.00:81.62,0.00:4.86,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:46.1,14.7:0,0:0,0:47,53:104,98:25,34:NM_001077482.2(NR1I3) c.944+116G>T,-:0.75,-:NOT_FOUND,- 1 161200724 . C . . NT END=161200906;NT GT ./. 1 161201036 . C . . NT END=161201118;NT GT ./. 1 161201265 . C . . NT END=161202596;NT GT ./. 1 161201297 . A AT 13 rn VT=INS;SST=Single;DP=56;NP=15;PC=0.044;Gene=NR1I3/NM_001077469.2/0;CC=c.549-34_549-33insA;VC=Intron;Gene=NR1I3/NM_001077470.2/0;CC=c.462-34_462-33insA;VC=Intron;Gene=NR1I3/NM_001077471.2/0;CC=c.549-34_549-33insA;VC=Intron;Gene=NR1I3/NM_001077472.2/0;CC=c.462-34_462-33insA;VC=Intron;Gene=NR1I3/NM_001077473.2/0;CC=c.462-34_462-33insA;VC=Intron;Gene=NR1I3/NM_001077474.2/0;CC=c.549-34_549-33insA;VC=Intron;Gene=NR1I3/NM_001077475.2/0;CC=c.462-34_462-33insA;VC=Intron;Gene=NR1I3/NM_001077476.2/0;CC=c.462-34_462-33insA;VC=Intron;Gene=NR1I3/NM_001077477.2/0;CC=c.462-34_462-33insA;VC=Intron;Gene=NR1I3/NM_001077478.2/0;CC=c.549-34_549-33insA;VC=Intron;Gene=NR1I3/NM_001077479.2/0;CC=c.462-34_462-33insA;VC=Intron;Gene=NR1I3/NM_001077480.2/0;CC=c.549-34_549-33insA;VC=Intron;Gene=NR1I3/NM_001077481.2/0;CC=c.549-34_549-33insA;VC=Intron;Gene=NR1I3/NM_001077482.2/1;CC=c.549-34_549-33insA;VC=Intron;Gene=NR1I3/NM_005122.4/0;CC=c.549-34_549-33insA;VC=Intron;DM=NR1I3/Hormone_recep;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,G,AT,D:56:21:6:2:47,1,6,2:1454,12,185,64:0.00,-0.12,13.24,3.72:0.00,-0.09,4.50,0.94:0.00,-0.03,8.74,2.79:0.00,0.00,0.83,0.00:0.00,0.00,0.82,0.00:0.00,0.00,0.98,0.00:60,60,60,60:19.3,95.0,2.2,14.0:0,0,0,0:0,0,0,0:112,23,72,78:38,128,78,71:22,0,8,48:-,NM_001077482.2(NR1I3) c.549-34_549-33insA:-,NOT_FOUND:-,NOT_FOUND 1 161201350 rs11265567 G T 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6625,T/0.3375;PC=0.001;Gene=NR1I3/NM_001077469.2/0;CC=c.549-86C>A;VC=Intron;Gene=NR1I3/NM_001077470.2/0;CC=c.462-86C>A;VC=Intron;Gene=NR1I3/NM_001077471.2/0;CC=c.549-86C>A;VC=Intron;Gene=NR1I3/NM_001077472.2/0;CC=c.462-86C>A;VC=Intron;Gene=NR1I3/NM_001077473.2/0;CC=c.462-86C>A;VC=Intron;Gene=NR1I3/NM_001077474.2/0;CC=c.549-86C>A;VC=Intron;Gene=NR1I3/NM_001077475.2/0;CC=c.462-86C>A;VC=Intron;Gene=NR1I3/NM_001077476.2/0;CC=c.462-86C>A;VC=Intron;Gene=NR1I3/NM_001077477.2/0;CC=c.462-86C>A;VC=Intron;Gene=NR1I3/NM_001077478.2/0;CC=c.549-86C>A;VC=Intron;Gene=NR1I3/NM_001077479.2/0;CC=c.462-86C>A;VC=Intron;Gene=NR1I3/NM_001077480.2/0;CC=c.549-86C>A;VC=Intron;Gene=NR1I3/NM_001077481.2/0;CC=c.549-86C>A;VC=Intron;Gene=NR1I3/NM_001077482.2/1;CC=c.549-86C>A;VC=Intron;Gene=NR1I3/NM_005122.4/0;CC=c.549-86C>A;VC=Intron;DM=NR1I3/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:27:9:0:0:1,15,11:9,495,348:-0.01,0.00,32.35:-0.03,0.00,9.56:0.03,0.00,22.79:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:147.0,6.2,72.3:0,0,0:0,0,0:65,112,76:68,35,75:0,15,58:-,NM_001077482.2(NR1I3) c.549-86C>A:-,0.34:-,NOT_FOUND 1 161201352 rs11265568 G A 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6625,A/0.3375;Gene=NR1I3/NM_001077469.2/0;CC=c.549-88C>T;VC=Intron;Gene=NR1I3/NM_001077470.2/0;CC=c.462-88C>T;VC=Intron;Gene=NR1I3/NM_001077471.2/0;CC=c.549-88C>T;VC=Intron;Gene=NR1I3/NM_001077472.2/0;CC=c.462-88C>T;VC=Intron;Gene=NR1I3/NM_001077473.2/0;CC=c.462-88C>T;VC=Intron;Gene=NR1I3/NM_001077474.2/0;CC=c.549-88C>T;VC=Intron;Gene=NR1I3/NM_001077475.2/0;CC=c.462-88C>T;VC=Intron;Gene=NR1I3/NM_001077476.2/0;CC=c.462-88C>T;VC=Intron;Gene=NR1I3/NM_001077477.2/0;CC=c.462-88C>T;VC=Intron;Gene=NR1I3/NM_001077478.2/0;CC=c.549-88C>T;VC=Intron;Gene=NR1I3/NM_001077479.2/0;CC=c.462-88C>T;VC=Intron;Gene=NR1I3/NM_001077480.2/0;CC=c.549-88C>T;VC=Intron;Gene=NR1I3/NM_001077481.2/0;CC=c.549-88C>T;VC=Intron;Gene=NR1I3/NM_001077482.2/1;CC=c.549-88C>T;VC=Intron;Gene=NR1I3/NM_005122.4/0;CC=c.549-88C>T;VC=Intron;DM=NR1I3/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:8:0:0:11,14:334,426:31.20,0.00:8.12,0.00:23.08,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:72.4,13.5:0,0:0,0:92,110:59,41:52,16:NM_001077482.2(NR1I3) c.549-88C>T,-:0.34,-:NOT_FOUND,- 1 161202605 rs2307424 G A 131 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.6637,A/0.3363;PC=0.003;Gene=NR1I3/NM_001077469.2/0;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;Gene=NR1I3/NM_001077470.2/0;CC=c.453C>T;ProtCh=p.P151=;VC=Silent;Gene=NR1I3/NM_001077471.2/0;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;Gene=NR1I3/NM_001077472.2/0;CC=c.453C>T;ProtCh=p.P151=;VC=Silent;Gene=NR1I3/NM_001077473.2/0;CC=c.453C>T;ProtCh=p.P151=;VC=Silent;Gene=NR1I3/NM_001077474.2/0;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;Gene=NR1I3/NM_001077475.2/0;CC=c.453C>T;ProtCh=p.P151=;VC=Silent;Gene=NR1I3/NM_001077476.2/0;CC=c.453C>T;ProtCh=p.P151=;VC=Silent;Gene=NR1I3/NM_001077477.2/0;CC=c.453C>T;ProtCh=p.P151=;VC=Silent;Gene=NR1I3/NM_001077478.2/0;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;Gene=NR1I3/NM_001077479.2/0;CC=c.453C>T;ProtCh=p.P151=;VC=Silent;Gene=NR1I3/NM_001077480.2/0;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;Gene=NR1I3/NM_001077481.2/0;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;Gene=NR1I3/NM_001077482.2/1;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;Gene=NR1I3/NM_005122.4/0;CC=c.540C>T;ProtCh=p.P180=;VC=Silent;DM=NR1I3/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:77:0:0:40,50:1385,1345:130.90,0.00:96.97,0.00:33.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,15.9:0,0:0,0:55,60:87,86:29,33:NM_001077482.2(NR1I3) c.540C>T (p.(=)),-:0.34,-:0.269875,- 1 161202738 . T . . NT END=161202958;NT GT ./. 1 161203129 . C . . NT END=161205636;NT GT ./. 1 161205768 . C . . NT END=161206248;NT GT ./. 1 161205898 rs6686001 G T 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8666,T/0.1334;Gene=NR1I3/NM_001077469.2/0;CC=c.108-131C>A;VC=Intron;Gene=NR1I3/NM_001077470.2/0;CC=c.21-131C>A;VC=Intron;Gene=NR1I3/NM_001077471.2/0;CC=c.108-131C>A;VC=Intron;Gene=NR1I3/NM_001077472.2/0;CC=c.21-131C>A;VC=Intron;Gene=NR1I3/NM_001077473.2/0;CC=c.21-131C>A;VC=Intron;Gene=NR1I3/NM_001077474.2/0;CC=c.108-131C>A;VC=Intron;Gene=NR1I3/NM_001077475.2/0;CC=c.21-131C>A;VC=Intron;Gene=NR1I3/NM_001077476.2/0;CC=c.21-131C>A;VC=Intron;Gene=NR1I3/NM_001077477.2/0;CC=c.21-131C>A;VC=Intron;Gene=NR1I3/NM_001077478.2/0;CC=c.108-131C>A;VC=Intron;Gene=NR1I3/NM_001077479.2/0;CC=c.21-131C>A;VC=Intron;Gene=NR1I3/NM_001077480.2/0;CC=c.108-131C>A;VC=Intron;Gene=NR1I3/NM_001077481.2/0;CC=c.108-131C>A;VC=Intron;Gene=NR1I3/NM_001077482.2/1;CC=c.108-131C>A;VC=Intron;Gene=NR1I3/NM_005122.4/0;CC=c.108-131C>A;VC=Intron;DM=NR1I3/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:33:3:0:0:1,17,15:13,534,496:0.20,0.00,47.15:0.43,0.00,6.47:-0.23,0.00,40.68:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,60,60:24.0,8.5,37.3:0,0,0:0,0,0:62,111,107:89,39,44:0,32,27:-,NM_001077482.2(NR1I3) c.108-131C>A:-,0.15:-,NOT_FOUND 1 161206389 . C . . NT END=161207830;NT GT ./. 1 161206516 rs530924831 G GTTTTCT 48 sb,nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=375;PC=0.003;Gene=NR1I3/NM_001077469.2/0;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077470.2/0;CC=c.21-750_21-749insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077471.2/0;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077472.2/0;CC=c.21-750_21-749insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077473.2/0;CC=c.21-750_21-749insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077474.2/0;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077475.2/0;CC=c.21-750_21-749insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077476.2/0;CC=c.21-750_21-749insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077477.2/0;CC=c.21-750_21-749insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077478.2/0;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077479.2/0;CC=c.21-750_21-749insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077480.2/0;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077481.2/0;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;Gene=NR1I3/NM_001077482.2/1;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;Gene=NR1I3/NM_005122.4/0;CC=c.-33-129_-33-128insAGAAAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTTTTCT:31:3:17:0:14,17:448,495:0.00,48.14:0.00,1.30:0.00,46.83:0.00,1.00:0.00,0.92:0.00,1.00:60,60:5.9,2.1:0,0:0,0:134,91:17,60:12,16:-,NM_001077482.2(NR1I3) c.-33-129_-33-128insAGAAAA:-,NOT_FOUND:-,NOT_FOUND 1 161208047 rs35796551 C A 149 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=C/0.9962,A/0.003794;NP=20;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:104:71:0:0:48,56:1578,1852:149.49,0.00:82.29,0.00:67.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,7.2:0,0:0,0:73,66:73,74:24,40:NM_001077482.2(NR1I3) c.-203-u47G>T,-:0.01,-:NOT_FOUND,- 1 161208254 . AAG A 30 rn VT=DEL;SST=Single;DP=73;NP=3;PC=0.002;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAG,C,I,A:73:39:2:12:57,2,2,12:1754,37,66,385:0.00,1.05,3.75,30.38:0.00,-0.28,1.93,12.74:0.00,1.33,1.81,17.64:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:6.8,68.5,17.5,7.0:0,0,0,0:0,0,0,0:85,50,90,87:57,99,59,60:35,39,16,11:-,NM_001077482.2(NR1I3) c.-203-u256_-203-u255delCT:-,NOT_FOUND:-,NOT_FOUND 1 161208283 . A . . NT END=161228764;NT GT ./. 1 161228774 . G . . NT END=161253457;NT GT ./. 1 161228800 rs4078110 C T 132 nt VT=SNV;PN=T;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.723,T/0.277;PC=0.111;Gene=PCP4L1/NM_001102566.1/1;CC=c.9+27C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:86:64:0:0:43,1,42:1433,7,1375:0.00,-0.17,131.91:0.00,-0.11,57.82:0.00,-0.06,74.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.0,7.0,37.6:0,0,0:0,0,0:104,0,76:41,151,60:22,0,28:-,NM_001102566.1(PCP4L1) c.9+27C>T:-,0.27:-,NOT_FOUND 1 161253513 . G . . NT END=161254128;NT GT ./. 1 161254272 . A . . NT END=161275665;NT GT ./. 1 161261568 . CTGTG C 12 idl,rn VT=DEL;SST=Single;DP=16;PC=0.004;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:CTGTG,C:11:16:0:10:7,4:235,284:0.00,11.53:0.00,11.53:0.00,0.00:0.00,0.75:0.00,0.75:0.00,0.00:60,60:26.6,79.8:0,5:0,0:71,53:45,94:26,22:-,chr1 g.161261569_161261572delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 161261630 . T G 6 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:G,T:16:14:0:0:7,9:80,190:6.45,0.00:7.32,0.00:-0.87,0.00:0.98,0.00:1.00,0.00:0.94,0.00:60,60:41.6,60.8:0,0:0,0:109,77:30,66:24,17:chr1 g.161261629T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 161275768 . C . . NT END=161275897;NT GT ./. 1 161275959 . C . . NT END=161276118;NT GT ./. 1 161276255 . C . . NT END=161276497;NT GT ./. 1 161276434 rs6674383 A G 165 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=3477;Gene=MPZ/NM_000530.6/1;CC=c.448+64T>C;VC=Intron;Gene=MPZ/NM_001315491/0;CC=c.448+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:30:0:0:46:1434:165.19:103.65:61.54:1.00:1.00:1.00:60:48.7:0:0:58:89:31:NM_000530.6(MPZ) c.448+64T>C,NM_000530.6(MPZ) c.448+64T>C:1,1:NOT_FOUND,NOT_FOUND 1 161276712 . C . . NT END=161277047;NT GT ./. 1 161277215 . C . . NT END=161279628;NT GT ./. 1 161279518 rs11579939 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9305,C/0.06949;PC=0.006;Gene=MPZ/NM_000530.6/1;CC=c.67+111A>G;VC=Intron;Gene=MPZ/NM_001315491/0;CC=c.67+111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,C,T:17:16:0:0:1,5,11:12,163,386:0.26,14.36,0.00:0.29,14.52,0.00:-0.03,-0.15,0.00:0.00,0.88,0.00:0.00,0.99,0.00:0.00,0.53,0.00:60,60,60:23.0,32.6,2.0:0,0,0:0,0,0:133,20,42:18,131,109:0,19,19:NM_000530.6(MPZ) c.67+111A>G,-:0.06,-:NOT_FOUND,- 1 161279696 . A . . NT END=161284195;NT GT ./. 1 161284216 . G . . NT END=161293403;NT GT ./. 1 161293461 . G . . NT END=161298185;NT GT ./. 1 161298288 . G . . NT END=161309351;NT GT ./. 1 161309139 rs59683334 A AT 8 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=43;PC=0.001;Gene=SDHC/NM_001035511.1/0;CC=c.180-1229_180-1228insT;VC=Intron;Gene=SDHC/NM_001035512.1/0;CC=c.78-1229_78-1228insT;VC=Intron;Gene=SDHC/NM_001035513.1/0;CC=c.21-1229_21-1228insT;VC=Intron;Gene=SDHC/NM_001278172.1/0;CC=c.78-1229_78-1228insT;VC=Intron;Gene=SDHC/NM_003001.3/1;CC=c.180-1229_180-1228insT;VC=Intron;Gene=SDHC/NR_103459.1/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,AT,D:13:15:5:1:9,3,1:294,164,31:0.00,8.26,2.13:0.00,8.26,2.13:0.00,0.00,0.00:0.00,0.55,0.00:0.00,0.55,0.00:0.00,0.00,0.00:60,60,60:15.0,53.3,39.0:1,2,0:0,0,0:44,30,6:99,121,144:17,28,0:-,NM_003001.3(SDHC) c.180-1245_180-1244insT:-,NOT_FOUND:-,NOT_FOUND 1 161309335 rs536741874 A AT 21 idl,rn VT=INS;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=3;Gene=SDHC/NM_001035511.1/0;CC=c.180-1038dupT;VC=Intron;Gene=SDHC/NM_001035512.1/0;CC=c.78-1038dupT;VC=Intron;Gene=SDHC/NM_001035513.1/0;CC=c.21-1038dupT;VC=Intron;Gene=SDHC/NM_001278172.1/0;CC=c.78-1038dupT;VC=Intron;Gene=SDHC/NM_003001.3/1;CC=c.180-1038dupT;VC=Intron;Gene=SDHC/NR_103459.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,AT,D:101:75:10:9:83,9,9:2630,321,273:0.00,20.89,18.80:0.00,8.78,10.01:0.00,12.11,8.79:0.00,0.96,0.00:0.00,0.99,0.00:0.00,0.98,0.00:60,70,60:15.2,15.1,3.8:0,1,0:0,0,0:53,65,46:86,72,57:30,36,38:-,NM_003001.3(SDHC) c.180-1049_180-1048insT:-,NOT_FOUND:-,NOT_FOUND 1 161309379 . G . . NT END=161310383;NT GT ./. 1 161309452 rs538583566 GTT G 10 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=SDHC/NM_001035511.1/0;CC=c.180-905_180-904delTT;VC=Intron;Gene=SDHC/NM_001035512.1/0;CC=c.78-905_78-904delTT;VC=Intron;Gene=SDHC/NM_001035513.1/0;CC=c.21-905_21-904delTT;VC=Intron;Gene=SDHC/NM_001278172.1/0;CC=c.78-905_78-904delTT;VC=Intron;Gene=SDHC/NM_003001.3/1;CC=c.180-905_180-904delTT;VC=Intron;Gene=SDHC/NR_103459.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,GTT,T,I,G:41:22:1:9:1,32,2,1,5:10,850,43,29,214:-0.12,0.00,2.13,1.42,9.61:0.05,0.00,-0.30,-0.15,1.40:-0.17,0.00,2.43,1.58,8.21:0.00,0.00,0.00,0.00,0.75:0.00,0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.00,0.93:60,70,60,60,60:17.0,19.3,121.0,193.0,74.6:0,0,0,0,3:0,0,0,0,0:146,138,105,113,75:5,10,36,37,60:0,8,3,0,21:-,NM_003001.3(SDHC) c.180-931_180-930delTT:-,NOT_FOUND:-,NOT_FOUND 1 161310446 . G . . NT END=161326466;NT GT ./. 1 161326293 rs12757174 T C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6078,C/0.3922;Gene=SDHC/NM_001035511.1/0;CC=c.242-5826T>C;VC=Intron;Gene=SDHC/NM_001035512.1/0;CC=c.140-174T>C;VC=Intron;Gene=SDHC/NM_001035513.1/0;CC=c.83-174T>C;VC=Intron;Gene=SDHC/NM_001278172.1/0;CC=c.140-5826T>C;VC=Intron;Gene=SDHC/NM_003001.3/1;CC=c.242-174T>C;VC=Intron;Gene=SDHC/NR_103459.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:9,11:264,352:24.67,0.00:24.67,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.3,11.4:0,0:0,0:93,34:58,117:28,17:NM_003001.3(SDHC) c.242-174T>C,-:0.35,-:NOT_FOUND,- 1 161326331 rs113368293 G T 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8952,T/0.1048;PC=0.005;Gene=SDHC/NM_001035511.1/0;CC=c.242-5788G>T;VC=Intron;Gene=SDHC/NM_001035512.1/0;CC=c.140-136G>T;VC=Intron;Gene=SDHC/NM_001035513.1/0;CC=c.83-136G>T;VC=Intron;Gene=SDHC/NM_001278172.1/0;CC=c.140-5788G>T;VC=Intron;Gene=SDHC/NM_003001.3/1;CC=c.242-136G>T;VC=Intron;Gene=SDHC/NR_103459.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:27:0:0:14,13:454,413:0.00,39.39:0.00,39.39:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.5,50.3:0,0:0,0:68,51:83,100:29,38:-,NM_003001.3(SDHC) c.242-136G>T:-,0.1:-,NOT_FOUND 1 161326631 . G . . NT END=161332118;NT GT ./. 1 161326722 rs199612101 C GTT 6 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=13;Gene=SDHC/NM_001035511.1/0;CC=c.242-5398_242-5397insGT;VC=Intron;Gene=SDHC/NM_001035512.1/0;CC=c.303+91_303+92insGT;VC=Intron;Gene=SDHC/NM_001035513.1/0;CC=c.246+91_246+92insGT;VC=Intron;Gene=SDHC/NM_001278172.1/0;CC=c.140-5398_140-5397insGT;VC=Intron;Gene=SDHC/NM_003001.3/1;CC=c.405+91_405+92insGT;VC=Intron;Gene=SDHC/NR_103459.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,G,GTT,D:21:1:4:1:16,1,3,1:507,9,114,25:0.00,-0.04,6.42,1.32:0.00,-0.01,-0.03,-0.01:0.00,-0.03,6.45,1.33:0.00,0.00,0.48,0.00:0.00,0.00,0.42,0.00:0.00,0.00,0.48,0.00:60,60,70,60:9.6,47.0,32.3,43.0:0,0,1,0:0,0,0,0:112,91,110,110:38,60,40,41:29,0,23,0:-,NM_003001.3(SDHC) c.405+92delCinsGTT:-,NOT_FOUND:-,NOT_FOUND 1 161332091 rs535325534 CT C 19 idl,rn VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=CT/0.5879,C/0.4121;DB;DBA=NA;PAF=CT/0.5879,C/0.4121;NP=91;Gene=SDHC/NM_001035511.1/0;CC=c.242-14delT;VC=Intron;Gene=SDHC/NM_001035512.1/0;CC=c.304-14delT;VC=Intron;Gene=SDHC/NM_001035513.1/0;CC=c.247-14delT;VC=Intron;Gene=SDHC/NM_001278172.1/0;CC=c.140-14delT;VC=Intron;Gene=SDHC/NM_003001.3/1;CC=c.406-14delT;VC=Intron;Gene=SDHC/NR_103459.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:CT,I,C:44:41:5:11:31,5,8:870,161,342:0.00,12.11,19.47:0.00,5.72,11.94:0.00,6.39,7.53:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.94:60,60,60:51.3,8.2,20.8:0,0,3:0,0,0:60,45,45:79,106,106:29,17,17:-,NM_003001.3(SDHC) c.406-27delT:-,NOT_FOUND:-,NOT_FOUND 1 161332331 . A . . NT END=161334754;NT GT ./. 1 161334941 . C . . NT END=161335315;NT GT ./. 1 161335493 . C . . NT END=161335987;NT GT ./. 1 161336069 . C . . NT END=161336228;NT GT ./. 1 161336292 . C . . NT END=161337631;NT GT ./. 1 161337659 . G . . NT END=161475257;NT GT ./. 1 161475343 . G . . NT END=161475776;NT GT ./. 1 161475798 . G . . NT END=161476123;NT GT ./. 1 161476382 . G . . NT END=161479609;NT GT ./. 1 161479865 . G . . NT END=161480623;NT GT ./. 1 161480747 . G . . NT END=161483684;NT GT ./. 1 161481561 rs10800357 C T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6358,T/0.3642;PC=0.611;Gene=FCGR2A/NM_001136219.1/0;CC=c.742+815C>T;VC=Intron;Gene=FCGR2A/NM_021642.3/1;CC=c.739+815C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:11:9:0:0:6,5:154,172:0.00,16.32:0.00,11.40:0.00,4.92:0.00,0.93:0.00,0.99:0.00,0.96:60,60:31.7,68.4:0,0:0,0:28,105:122,43:20,38:-,NM_021642.3(FCGR2A) c.739+815C>T:-,0.37:-,NOT_FOUND 1 161481567 rs11590749 G T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8614,T/0.1386;PC=0.499;Gene=FCGR2A/NM_001136219.1/0;CC=c.742+821G>T;VC=Intron;Gene=FCGR2A/NM_021642.3/1;CC=c.739+821G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:G,T:11:9:0:0:6,5:176,159:0.00,15.00:0.00,10.40:0.00,4.60:0.00,0.93:0.00,0.99:0.00,0.96:60,60:31.7,68.4:0,0:0,0:34,111:116,37:20,38:-,NM_021642.3(FCGR2A) c.739+821G>T:-,0.14:-,NOT_FOUND 1 161483579 rs383958 C T 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=264;PC=0.007;Gene=FCGR2A/NM_001136219.1/0;CC=c.743-106C>T;VC=Intron;Gene=FCGR2A/NM_021642.3/1;CC=c.740-106C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,G,T:50:46:0:0:44,1,5:1523,9,163:0.00,-0.24,11.68:0.00,-0.33,3.62:0.00,0.09,8.06:0.00,0.00,0.73:0.00,0.00,0.97:0.00,0.00,0.72:59,42,27:6.1,76.0,32.6:0,0,0:0,0,0:57,14,13:94,136,130:33,0,10:-,NM_021642.3(FCGR2A) c.740-106C>T:-,NOT_FOUND:-,NOT_FOUND 1 161483723 . G . . NT END=161487764;NT GT ./. 1 161487939 . A . . NT END=161494448;NT GT ./. 1 161494311 rs35740080 G C 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.1286,C/0.8714 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:43:41:0:0:1,26,16:14,789,453:0.26,79.13,0.00:0.29,74.46,0.00:-0.03,4.67,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,60,60:14.0,38.5,4.8:0,0,0:0,0,0:36,32,76:114,119,75:0,16,30:NM_002155.3(HSPA6) c.=,-:0.87,-:NOT_FOUND,- 1 161495161 rs371251812 G A 237 lc VT=SNV;PN=C;NN=G;SST=Single;DP=164;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HSPA6/NM_002155.4/1;CC=c.713G>A;ProtCh=p.R238Q;VC=Missense;DM=HSPA6/HSP70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:164:88:0:0:76,87,1:2501,2674,11:237.48,0.00,-0.15:104.45,0.00,-0.02:133.03,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,43:44.6,10.4,126.0:0,0,0:0,0,0:97,80,86:53,67,64:30,37,0:NM_002155.3(HSPA6) c.713G>A (p.Arg238Gln),-:NOT_FOUND,-:NOT_FOUND,- 1 161495463 rs142859332 G A 209 lc VT=SNV;PN=G;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=G/0.9974,A/0.002596;NP=15;PC=1.000;Gene=HSPA6/NM_002155.4/1;CC=c.1015G>A;ProtCh=p.V339M;VC=Missense;DM=HSPA6/HSP70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:150:103:0:0:69,81:2213,2603:209.26,0.00:119.31,0.00:89.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.5,10.6:0,0:0,0:77,81:73,68:34,33:NM_002155.3(HSPA6) c.1015G>A (p.Val339Met),-:0.0027,-:0.003844,- 1 161495477 rs72633678 A T 210 lc VT=SNV;PN=C;NN=C;SST=Single;DP=145;DB;DBA=NA;PAF=NA;Gene=HSPA6/NM_002155.4/1;CC=c.1029A>T;ProtCh=p.T343=;VC=Silent;DM=HSPA6/HSP70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:145:99:0:0:79,66:2530,2221:0.00,210.18:0.00,125.37:0.00,84.81:0.00,1.00:0.00,1.00:0.00,1.00:60,58:10.5,70.4:0,0:0,0:91,75:59,75:34,29:-,NM_002155.3(HSPA6) c.=:-,0.66:-,0.653083 1 161495885 rs404508 T C 205 lc VT=SNV;PN=C;NN=T;SST=Single;DP=140;DB;DBA=NA;PAF=T/0.1989,C/0.8011,G/.;PC=0.990;Gene=HSPA6/NM_002155.4/1;CC=c.1437T>C;ProtCh=p.T479=;VC=Silent;DM=HSPA6/HSP70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:140:91:0:0:67,1,72:2146,20,2297:204.77,0.27,0.00:123.77,-0.12,0.00:81.00,0.38,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,59,60:43.1,31.0,6.2:0,0,0:0,0,0:78,39,66:71,112,81:43,0,33:NM_002155.3(HSPA6) c.=,-:0.81,-:0.76557,- 1 161496381 . A . . NT END=161512801;NT GT ./. 1 161496530 rs1042881 C G 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6072,G/0.3928;Gene=HSPA6/NM_002155.4/1;CC=c.*150C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,G:18:0:0:0:3,15:91,444:0.00,47.97:0.00,0.00:0.00,47.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,43.0:0,0:0,0:82,94:69,56:21,43:-,NM_002155.3(HSPA6) c.=:-,0.38:-,NOT_FOUND 1 161512990 . C . . NT END=161514490;NT GT ./. 1 161514749 . C . . NT END=161518210;NT GT ./. 1 161518159 rs200225944 C T 98 nt VT=SNV;PN=C;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=1989;Gene=FCGR3A/NM_000569.6/0;CC=c.427+52G>A;VC=Intron;Gene=FCGR3A/NM_001127592.1/0;CC=c.424+52G>A;VC=Intron;Gene=FCGR3A/NM_001127593.1/1;CC=c.319+52G>A;VC=Intron;Gene=FCGR3A/NM_001127595.1/0;CC=c.319+52G>A;VC=Intron;Gene=FCGR3A/NM_001127596.1/0;CC=c.316+52G>A;VC=Intron;DM=FCGR3A/Ig_2;DM=FCGR3A/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:142:125:0:0:107,1,34:3250,5,1152:0.00,-0.31,97.63:0.00,-0.24,88.31:0.00,-0.07,9.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,27,42:21.5,237.0,69.2:0,0,0:0,0,0:39,38,40:112,112,111:22,0,25:-,NM_001127593.1(FCGR3A) c.319+52G>A:-,NOT_FOUND:-,NOT_FOUND 1 161518172 rs147342954 C T 151 nt VT=SNV;PN=C;NN=T;SST=Single;DP=171;DB;DBA=NA;PAF=NA;NP=1801;Gene=FCGR3A/NM_000569.6/0;CC=c.427+39G>A;VC=Intron;Gene=FCGR3A/NM_001127592.1/0;CC=c.424+39G>A;VC=Intron;Gene=FCGR3A/NM_001127593.1/1;CC=c.319+39G>A;VC=Intron;Gene=FCGR3A/NM_001127595.1/0;CC=c.319+39G>A;VC=Intron;Gene=FCGR3A/NM_001127596.1/0;CC=c.316+39G>A;VC=Intron;DM=FCGR3A/Ig_2;DM=FCGR3A/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:171:148:0:0:118,1,52:3743,10,1721:0.00,-0.25,151.47:0.00,-0.16,131.92:0.00,-0.08,19.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,27,43:27.9,189.0,38.0:0,0,0:0,0,0:32,17,41:115,134,107:24,0,22:-,NM_001127593.1(FCGR3A) c.319+39G>A:-,0.21:-,NOT_FOUND 1 161518214 rs148181339 T C 182 lc VT=SNV;PN=A;NN=A;SST=Single;DP=236;DB;DBA=in-clinvar;PAF=NA;Gene=FCGR3A/NM_000569.6/0;CC=c.424A>G;ProtCh=p.I142V;VC=Missense;Gene=FCGR3A/NM_001127592.1/0;CC=c.421A>G;ProtCh=p.I141V;VC=Missense;Gene=FCGR3A/NM_001127593.1/1;CC=c.316A>G;ProtCh=p.I106V;VC=Missense;Gene=FCGR3A/NM_001127595.1/0;CC=c.316A>G;ProtCh=p.I106V;VC=Missense;Gene=FCGR3A/NM_001127596.1/0;CC=c.313A>G;ProtCh=p.I105V;VC=Missense;DM=FCGR3A/Ig_2;DM=FCGR3A/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:236:191:0:0:64,172:2110,5373:181.69,0.00:126.06,0.00:55.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,50:59.8,17.5:0,0:0,0:39,54:107,92:21,27:NM_001127593.1(FCGR3A) c.316A>G (p.Ile106Val),-:0.24,-:NOT_FOUND,- 1 161518336 rs77144485 C T 205 lc VT=SNV;PN=G;NN=T;SST=Single;DP=249;DB;DBA=in-clinvar;PAF=NA;Gene=FCGR3A/NM_000569.6/0;CC=c.302G>A;ProtCh=p.S101N;VC=Missense;Gene=FCGR3A/NM_001127592.1/0;CC=c.299G>A;ProtCh=p.S100N;VC=Missense;Gene=FCGR3A/NM_001127593.1/1;CC=c.194G>A;ProtCh=p.S65N;VC=Missense;Gene=FCGR3A/NM_001127595.1/0;CC=c.194G>A;ProtCh=p.S65N;VC=Missense;Gene=FCGR3A/NM_001127596.1/0;CC=c.191G>A;ProtCh=p.S64N;VC=Missense;DM=FCGR3A/Ig_2;DM=FCGR3A/Ig_2;DM=FCGR3A/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:249:149:0:0:173,2,74:5783,20,2347:0.00,-0.44,204.54:0.00,-0.09,107.38:0.00,-0.35,97.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,51:6.4,81.5,43.5:0,0,0:0,0,0:82,95,60:66,55,91:37,23,30:-,NM_001127593.1(FCGR3A) c.194G>A (p.Ser65Asn):-,NOT_FOUND:-,NOT_FOUND 1 161518469 . C . . NT END=161518800;NT GT ./. 1 161518618 rs199526142 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=187;Gene=FCGR3A/NM_000569.6/0;CC=c.170-150C>T;VC=Intron;Gene=FCGR3A/NM_001127592.1/0;CC=c.170-153C>T;VC=Intron;Gene=FCGR3A/NM_001127593.1/1;CC=c.62-150C>T;VC=Intron;Gene=FCGR3A/NM_001127595.1/0;CC=c.62-150C>T;VC=Intron;Gene=FCGR3A/NM_001127596.1/0;CC=c.62-153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:7:0:0:12,37:379,1211:31.79,0.00:-0.85,0.00:32.64,0.00:1.00,0.00:0.83,0.00:1.00,0.00:40,42:46.5,10.1:0,0:0,0:102,104:38,47:25,31:NM_001127593.1(FCGR3A) c.62-150C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 161518822 . C . . NT END=161519486;NT GT ./. 1 161518879 rs12127809 A G 60 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.9784,G/0.02157;Gene=FCGR3A/NM_000569.6/0;CC=c.149-58T>C;VC=Intron;Gene=FCGR3A/NM_001127592.1/0;CC=c.149-58T>C;VC=Intron;Gene=FCGR3A/NM_001127593.1/1;CC=c.41-58T>C;VC=Intron;Gene=FCGR3A/NM_001127595.1/0;CC=c.41-58T>C;VC=Intron;Gene=FCGR3A/NM_001127596.1/0;CC=c.41-58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:19:0:0:21,19:690,627:0.00,59.73:0.00,14.77:0.00,44.96:0.00,1.00:0.00,1.00:0.00,1.00:53,53:6.7,50.5:0,0:0,0:98,107:44,44:17,42:-,NM_001127593.1(FCGR3A) c.41-58T>C:-,0.03:-,0.049956 1 161518971 rs371389552 C T 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9788,T/0.02117;NP=70;Gene=FCGR3A/NM_000569.6/0;CC=c.149-150G>A;VC=Intron;Gene=FCGR3A/NM_001127592.1/0;CC=c.149-150G>A;VC=Intron;Gene=FCGR3A/NM_001127593.1/1;CC=c.41-150G>A;VC=Intron;Gene=FCGR3A/NM_001127595.1/0;CC=c.41-150G>A;VC=Intron;Gene=FCGR3A/NM_001127596.1/0;CC=c.41-150G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:8,8:220,262:0.00,25.22:0.00,0.00:0.00,25.22:0.00,1.00:0.00,0.00:0.00,1.00:40,44:20.2,61.9:0,0:0,0:92,112:58,39:19,15:-,NM_001127593.1(FCGR3A) c.41-150G>A:-,NOT_FOUND:-,NOT_FOUND 1 161519411 rs10917571 C A 130 nt VT=SNV;PN=T;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.6595,A/0.3405;Gene=FCGR3A/NM_000569.6/0;CC=c.148+76G>T;VC=Intron;Gene=FCGR3A/NM_001127592.1/0;CC=c.148+76G>T;VC=Intron;Gene=FCGR3A/NM_001127593.1/1;CC=c.40+76G>T;VC=Intron;Gene=FCGR3A/NM_001127595.1/0;CC=c.40+76G>T;VC=Intron;Gene=FCGR3A/NM_001127596.1/0;CC=c.40+76G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:103:85:0:0:45,58:1388,1882:129.56,0.00:99.39,0.00:30.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.0,6.8:0,0:0,0:54,61:95,89:27,41:NM_001127593.1(FCGR3A) c.40+76G>T,-:0.35,-:NOT_FOUND,- 1 161519635 . C . . NT END=161551223;NT GT ./. 1 161551344 . G . . NT END=161558161;NT GT ./. 1 161558282 . T . . NT END=161559300;NT GT ./. 1 161559082 rs61801810 C T 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2981,T/0.7019;Gene=FCGR2C/NM_201563/0;CC=c.134-270C>T;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:219:25.60:25.60:0.00:1.00:1.00:0.00:60:36.6:1:0:68:83:15:NR_047648.1(FCGR2C) n.233-270C>T,NR_047648.1(FCGR2C) n.233-270C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 161559256 rs114945036 C T 103 nt VT=SNV;PN=C;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.755,T/0.245;Gene=FCGR2C/NM_201563/0;CC=c.134-96C>T;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:65:61:0:0:31,1,33:976,5,1068:0.00,-0.17,103.25:0.00,-0.15,91.68:0.00,-0.02,11.57:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.6,44.0,59.4:0,0,0:0,0,0:45,39,32:105,112,119:30,0,22:-,NR_047648.1(FCGR2C) n.233-96C>T:-,0.21:-,NOT_FOUND 1 161559327 rs3933769 A G 442 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=A/0.2975,G/0.7025;Gene=FCGR2C/NM_201563/0;CC=c.134-25A>G;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:134:118:0:0:1,132,1:11,3809,13:0.09,441.68,0.14:0.09,318.23,0.14:0.00,123.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:69.0,49.2,35.0:0,0,0:0,0,0:87,46,130:64,99,21:0,24,0:NR_047648.1(FCGR2C) n.233-25A>G,NR_047648.1(FCGR2C) n.233-25A>G:0.72,0.72:0.682799,0.682799 1 161559571 rs138747765 C T 340 lc VT=SNV;PN=A;NN=C;SST=Single;DP=271;DB;DBA=NA;PAF=C/0.8061,T/0.1939;PC=0.001;Gene=FCGR2C/NM_201563/0;CC=c.353C>T;ProtCh=p.T118I;VC=Missense;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding;DM=FCGR2C/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:271:196:0:0:150,2,119:4825,32,3632:0.00,0.38,339.57:0.00,0.56,166.96:0.00,-0.17,172.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:51,53,60:8.1,71.5,42.3:0,0,0:0,0,0:80,12,77:71,128,72:42,10,34:-,NR_047648.1(FCGR2C) n.452C>T:-,0.19:-,0.210807 1 161559661 . A . . NT END=161560881;NT GT ./. 1 161559720 rs78603008 G A 125 nt VT=SNV;PN=C;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.8055,A/0.1945;Gene=FCGR2C/NM_201563/0;CC=c.391+111G>A;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:96:8:0:0:44,52:1333,1747:125.49,0.00:5.71,0.00:119.78,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:52.2,24.0:0,0:0,0:106,106:44,45:26,33:NR_047648.1(FCGR2C) n.490+111G>A,-:0.19,-:NOT_FOUND,- 1 161559784 rs1674779 A G 198 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.2859,G/0.7141;Gene=FCGR2C/NM_201563/0;CC=c.391+175A>G;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:G:54:0:0:0:54:1723:197.95:0.00:197.95:1.00:0.00:1.00:60:49.1:0:0:111:40:27:NR_047648.1(FCGR2C) n.490+175A>G,NR_047648.1(FCGR2C) n.490+175A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 161561194 rs148639303 A C 38 lc VT=SNV;PN=G;NN=G;SST=Single;DP=220;DB;DBA=NA;PAF=NA;Gene=FCGR2C/NM_201563/0;CC=c.646+6A>C;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C,G:220:122:0:0:200,19,1:6745,565,31:0.00,37.61,0.86:0.00,19.62,0.48:0.00,17.99,0.38:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:58,40,27:24.4,61.0,65.0:0,0,0:0,0,0:85,107,59:60,44,90:31,26,0:-,NR_047648.1(FCGR2C) n.745+6A>C:-,0.09:-,NOT_FOUND 1 161561236 rs143998157 C T 250 lc VT=SNV;PN=A;NN=A;SST=Single;DP=162;DB;DBA=NA;PAF=NA;Gene=FCGR2C/NM_201563/0;CC=c.646+48C>T;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:162:72:0:0:79,83:2656,2592:0.00,249.95:0.00,71.82:0.00,178.14:0.00,1.00:0.00,1.00:0.00,1.00:51,54:26.4,48.2:0,0:0,0:105,107:44,41:28,19:-,NR_047648.1(FCGR2C) n.745+48C>T:-,0.22:-,0.310011 1 161561242 . C . . NT END=161561915;NT GT ./. 1 161561287 rs2125686 A G 319 nt VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.005591,G/0.9944;Gene=FCGR2C/NM_201563/0;CC=c.646+99A>G;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:85:12:0:0:1,84:33,2809:0.00,318.53:0.00,27.68:0.00,290.85:0.00,1.00:0.00,1.00:0.00,1.00:42,48:33.0,55.5:0,0:0,0:58,106:93,43:0,27:NR_047648.1(FCGR2C) n.745+99A>G,NR_047648.1(FCGR2C) n.745+99A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 161561676 rs72700080 T C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=297;Gene=FCGR2C/NM_201563/0;CC=c.647-243T>C;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,T:19:16:0:0:3,16:89,478:6.74,0.00:3.72,0.00:3.03,0.00:0.51,0.00:0.88,0.00:0.45,0.00:51,60:83.3,18.9:0,0:0,0:98,51:53,97:18,35:NR_047648.1(FCGR2C) n.746-243T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 161561681 rs72700082 C T 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=332;PC=0.001;Gene=FCGR2C/NM_201563/0;CC=c.647-238C>T;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:20:17:0:0:17,3:502,99:0.00,7.67:0.00,4.86:0.00,2.81:0.00,0.50:0.00,0.88:0.00,0.44:60,51:20.1,83.3:0,0:0,0:54,103:95,48:34,18:-,NR_047648.1(FCGR2C) n.746-238C>T:-,NOT_FOUND:-,NOT_FOUND 1 161562036 . T . . NT END=161565301;NT GT ./. 1 161562058 rs143311449 G T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.02596,T/0.974;NP=1054;Gene=FCGR2C/NM_201563/0;CC=c.760+26G>T;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:237:27.04:0.00:27.04:1.00:0.00:1.00:40:35.6:0:0:119:32:12:NR_047648.1(FCGR2C) n.859+26G>T,NR_047648.1(FCGR2C) n.859+26G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 161563039 rs61801817 T C 40 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.02895,C/0.971;Gene=FCGR2C/NM_201563/0;CC=c.760+1007T>C;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:352:40.44:40.44:0.00:1.00:1.00:0.00:60:54.8:0:0:31:120:14:NR_047648.1(FCGR2C) n.859+1007T>C,NR_047648.1(FCGR2C) n.859+1007T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 161563386 rs72700089 C T 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9575,T/0.04253;Gene=FCGR2C/NM_201563/0;CC=c.760+1354C>T;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,T:14:1:0:0:6,8:182,273:0.00,26.97:0.00,1.87:0.00,25.10:0.00,1.00:0.00,0.71:0.00,1.00:60,60:1.5,54.1:0,0:0,0:69,96:82,54:23,24:-,NR_047648.1(FCGR2C) n.859+1354C>T:-,0.05:-,NOT_FOUND 1 161565324 rs61801822 C T 339 lc VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.3009,T/0.6991;Gene=FCGR2C/NM_201563/0;CC=c.761-19C>T;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:89:74:0:0:89:2971:339.48:227.63:111.85:1.00:1.00:1.00:56:38.8:0:0:66:85:35:NR_047648.1(FCGR2C) n.860-19C>T,NR_047648.1(FCGR2C) n.860-19C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 161565422 . C . . NT END=161569463;NT GT ./. 1 161565479 rs111504845 G A 63 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.5581,A/0.4419;PC=0.916;Gene=FCGR2C/NM_201563/0;CC=c.798+99G>A;VC=Intron;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:5:0:0:21,24:662,686:62.73,0.00:5.00,0.00:57.73,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:41.5,8.7:0,0:0,0:109,95:41,56:15,34:NR_047648.1(FCGR2C) n.897+99G>A,-:0.45,-:NOT_FOUND,- 1 161569419 rs430178 C G 87 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.2586,G/0.7414;PC=0.003;Gene=FCGR2C/NM_201563/0;CC=c.799-1C>G;VC=SpliceSiteCDS;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:85:82:0:0:55,30:1775,971:0.00,87.45:0.00,88.45:0.00,-0.99:0.00,1.00:0.00,1.00:0.00,1.00:60,40:7.3,37.6:0,0:0,0:35,48:109,102:32,22:-,NR_047648.1(FCGR2C) c.=:-,0.54:-,NOT_FOUND 1 161569680 . g . . NT END=161594304;NT GT ./. 1 161569815 rs114532422 G C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=4;PC=0.302;Gene=FCGR2C/NM_201563/0;CC=c.*222G>C;VC=3UTR;Gene=FCGR2C/NR_047648.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,G:22:0:0:0:5,17:166,562:13.87,0.00:0.00,0.00:13.87,0.00:0.84,0.00:0.00,0.00:0.84,0.00:43,53:33.2,3.7:0,0:0,0:124,99:27,50:24,28:NR_047648.1(FCGR2C) n.1293G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 161575844 rs3754053 C G 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3313,G/0.6687;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,G:11:11:0:0:4,7:136,220:0.00,22.20:0.00,22.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.0,73.1:0,0:0,0:43,22:106,129:14,16:-,NR_024151.1(HSPA7) n.-5C>G:-,0.64:-,NOT_FOUND 1 161576227 rs145679054 C G 123 nt VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=NA;Gene=HSPA7/NR_024151.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:97:68:0:0:52,45:1593,1303:0.00,122.56:0.00,89.74:0.00,32.82:0.00,1.00:0.00,1.00:0.00,1.00:42,42:9.8,40.6:0,0:0,0:74,89:76,62:33,43:-,NR_024151.1(HSPA7) n.379C>G:-,0.68:-,NOT_FOUND 1 161577204 rs200837054 G T 191 nt VT=SNV;PN=G;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=G/0.7923,T/0.2077;PC=1.000;Gene=HSPA7/NR_024151.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:124:74:0:0:60,64:1970,1981:0.00,191.34:0.00,88.88:0.00,102.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,38.4:0,0:0,0:95,98:55,52:25,38:-,NR_024151.1(HSPA7) n.=:-,NOT_FOUND:-,NOT_FOUND 1 161577669 rs61802307 G A 158 nt VT=SNV;PN=T;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.3379,A/0.6621;PC=1.000;Gene=HSPA7/NR_024151.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:117:77:0:0:54,1,62:1669,10,2148:157.75,-0.15,0.00:77.08,-0.13,0.00:80.67,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,44,60:40.6,152.0,6.1:0,0,0:0,0,0:65,39,84:80,112,62:35,0,35:NR_024151.1(HSPA7) n.1821G>A,-:0.67,-:NOT_FOUND,- 1 161587892 rs187814751 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6536,C/0.3464;PC=0.838 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:2:0:0:2,2:69,66:6.65,0.00:1.54,0.00:5.11,0.00:0.51,0.00:0.79,0.00:0.89,0.00:53,60:34.5,73.0:0,0:0,0:41,66:81,83:2,28:chr1 g.161587891T>C (intergenic),-:0.3,-:NOT_FOUND,- 1 161594100 rs61803007 C T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=FCGR3B/NM_001271036.1/0;CC=c.*205G>A;VC=3UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.*205G>A;VC=3UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.*205G>A;VC=3UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.*205G>A;VC=3UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.*205G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:9:9:0:0:3,6:104,164:0.00,16.73:0.00,16.73:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:55,55:21.3,51.0:0,0:0,0:21,33:130,117:9,18:-,NM_000570.4(FCGR3B) c.*205G>A:-,0.53:-,NOT_FOUND 1 161594226 rs61803008 C T 139 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.104,T/0.896;Gene=FCGR3B/NM_001271036.1/0;CC=c.*79G>A;VC=3UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.*79G>A;VC=3UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.*79G>A;VC=3UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.*79G>A;VC=3UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.*79G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:33:0:0:36:1218:138.94:112.29:26.65:1.00:1.00:1.00:55:71.8:0:0:43:104:22:NM_000570.4(FCGR3B) c.*79G>A,NM_000570.4(FCGR3B) c.*79G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 161594246 rs61803009 G T 151 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.104,T/0.896;PC=0.005;Gene=FCGR3B/NM_001271036.1/0;CC=c.*59C>A;VC=3UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.*59C>A;VC=3UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.*59C>A;VC=3UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.*59C>A;VC=3UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.*59C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:37:0:0:43:1307:151.07:113.75:37.32:1.00:1.00:1.00:52:68.5:0:0:48:94:26:NM_000570.4(FCGR3B) c.=,NM_000570.4(FCGR3B) c.=:0.86,0.86:NOT_FOUND,NOT_FOUND 1 161594430 . C . . NT END=161595934;NT GT ./. 1 161594525 rs61803010 G C 120 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.1042,C/0.8958;Gene=FCGR3B/NM_001271036.1/0;CC=c.527-96C>G;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.269-96C>G;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.686-96C>G;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.683-96C>G;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.578-96C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:3:0:0:35:1031:119.67:7.40:112.27:1.00:1.00:1.00:51:88.5:0:0:109:41:24:NM_000570.4(FCGR3B) c.578-96C>G,NM_000570.4(FCGR3B) c.578-96C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 161594526 rs61803011 T G 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FCGR3B/NM_001271036.1/0;CC=c.527-97A>C;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.269-97A>C;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.686-97A>C;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.683-97A>C;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.578-97A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:3:0:0:34:1043:120.41:6.34:114.07:1.00:1.00:1.00:51:90.2:0:0:108:42:23:NM_000570.4(FCGR3B) c.578-97A>C,NM_000570.4(FCGR3B) c.578-97A>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 161594561 rs61803012 C G 94 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.1316,G/0.8684;PC=0.001;Gene=FCGR3B/NM_001271036.1/0;CC=c.527-132G>C;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.269-132G>C;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.686-132G>C;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.683-132G>C;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.578-132G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:1:0:0:25:823:94.22:3.18:91.05:1.00:1.00:1.00:51:94.5:0:0:112:39:29:NM_000570.4(FCGR3B) c.578-132G>C,NM_000570.4(FCGR3B) c.578-132G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 161595730 rs143596860 C A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6264,A/0.3736;NP=487;Gene=FCGR3B/NM_001271036.1/0;CC=c.526+205G>T;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.269-1301G>T;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.685+205G>T;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.682+205G>T;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.577+205G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C:10:10:0:0:3,7:101,219:8.88,0.00:8.88,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:42,43:49.0,8.0:0,0:0,0:69,50:81,100:29,15:NM_000570.4(FCGR3B) c.577+205G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 161596193 . C . . NT END=161599567;NT GT ./. 1 161596283 rs418215 G A 351 nt VT=SNV;PN=G;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.1282,A/0.8718;Gene=FCGR3B/NM_001271036.1/0;CC=c.269-91C>T;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.269-1854C>T;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.428-91C>T;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.425-91C>T;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.320-91C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:97:27:0:0:97:3048:350.97:63.41:287.56:1.00:1.00:1.00:53:38.8:0:0:118:31:15:NM_000570.4(FCGR3B) c.320-91C>T,NM_000570.4(FCGR3B) c.320-91C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 161599693 rs448740 T C 234 lc VT=SNV;PN=G;NN=T;SST=Single;DP=71;DB;DBA=in-clinvar;PAF=T/0.4671,C/0.5329;Gene=FCGR3B/NM_001271036.1/0;CC=c.143A>G;ProtCh=p.N48S;VC=Missense;Gene=FCGR3B/NM_001271037.1/0;CC=c.143A>G;ProtCh=p.N48S;VC=Missense;Gene=FCGR3B/NM_001244753.1/0;CC=c.302A>G;ProtCh=p.N101S;VC=Missense;Gene=FCGR3B/NM_001271035.1/0;CC=c.299A>G;ProtCh=p.N100S;VC=Missense;Gene=FCGR3B/NM_000570.4/1;CC=c.194A>G;ProtCh=p.N65S;VC=Missense;DM=FCGR3B/Ig_2;DM=FCGR3B/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,C,T:71:46:0:0:1,65,5:11,2114,165:0.14,234.40,0.00:-0.02,117.26,0.00:0.16,117.14,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,51,50:77.0,37.8,23.0:0,0,0:0,0,0:9,62,79:141,89,72:0,46,42:NM_000570.4(FCGR3B) c.194A>G (p.Asn65Ser),NM_000570.4(FCGR3B) c.194A>G (p.Asn65Ser):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 161599826 . C . . NT END=161600157;NT GT ./. 1 161599975 rs200789925 G A 16 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.485,A/0.515;NP=704;Gene=FCGR3B/NM_001271036.1/0;CC=c.11-150C>T;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.11-150C>T;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.170-150C>T;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.170-153C>T;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.62-150C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,G:18:11:0:0:6,12:182,350:16.10,0.00:17.32,0.00:-1.23,0.00:1.00,0.00:0.98,0.00:0.92,0.00:42,43:38.7,12.4:0,0:0,0:27,76:123,75:14,38:NM_000570.4(FCGR3B) c.62-150C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 161600179 . C . . NT END=161600669;NT GT ./. 1 161600287 rs143868437 AT A 27 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=AT/0.6016,A/0.3984;NP=598;Gene=FCGR3B/NM_001271036.1/0;CC=c.-11-110delA;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.-11-110delA;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.149-110delA;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.149-110delA;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.41-110delA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,A:20:3:0:9:10,1,9:301,25,288:0.00,1.46,27.38:0.00,-0.01,5.02:0.00,1.47,22.37:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:48,50,49:13.9,48.0,14.8:0,0,0:0,0,0:119,136,105:31,0,46:23,0,24:-,NM_000570.4(FCGR3B) c.41-110delA:-,NOT_FOUND:-,NOT_FOUND 1 161600345 rs145831350 C T 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5353,T/0.4647;NP=763;Gene=FCGR3B/NM_001271036.1/0;CC=c.-11-167G>A;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.-11-167G>A;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.149-167G>A;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.149-167G>A;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.41-167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,T:10:1:0:0:5,5:174,140:0.00,13.33:0.00,3.68:0.00,9.65:0.00,0.95:0.00,0.67:0.00,1.00:40,40:7.0,73.6:0,0:0,0:137,97:14,54:3,35:-,NM_000570.4(FCGR3B) c.41-167G>A:-,NOT_FOUND:-,NOT_FOUND 1 161600460 rs61803022 G A 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.08367,A/0.9163;PC=0.060;Gene=FCGR3B/NM_001271036.1/0;CC=c.-12+104C>T;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.-12+104C>T;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.149-282C>T;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.149-282C>T;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.41-282C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:6:0:0:10:313:36.07:22.26:13.81:1.00:1.00:1.00:56:108.7:0:0:87:64:49:NM_000570.4(FCGR3B) c.41-282C>T,NM_000570.4(FCGR3B) c.41-282C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 1 161600469 rs61803023 T C 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.03914,C/0.9609;Gene=FCGR3B/NM_001271036.1/0;CC=c.-12+95A>G;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.-12+95A>G;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.149-291A>G;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.149-291A>G;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.41-291A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:8:0:0:11:332:38.43:27.60:10.83:1.00:1.00:1.00:56:121.4:0:0:42:109:42:NM_000570.4(FCGR3B) c.41-291A>G,NM_000570.4(FCGR3B) c.41-291A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 161600477 rs61803024 G C 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.0633,C/0.9367;Gene=FCGR3B/NM_001271036.1/0;CC=c.-12+87C>G;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.-12+87C>G;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.149-299C>G;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.149-299C>G;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.41-299C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:8:0:0:11:353:40.54:30.62:9.93:1.00:1.00:1.00:56:121.4:0:0:50:101:42:NM_000570.4(FCGR3B) c.41-299C>G,NM_000570.4(FCGR3B) c.41-299C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 161600521 rs513242 C T 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5735,T/0.4265;NP=12;Gene=FCGR3B/NM_001271036.1/0;CC=c.-12+43G>A;VC=Intron;Gene=FCGR3B/NM_001271037.1/0;CC=c.-12+43G>A;VC=Intron;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+324G>A;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+324G>A;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+324G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:13:11:0:0:8,5:270,163:0.00,14.92:0.00,15.34:0.00,-0.42:0.00,0.91:0.00,0.99:0.00,0.68:60,43:99.9,134.0:0,0:0,0:73,21:77,130:27,10:-,NM_000570.4(FCGR3B) c.40+324G>A:-,NOT_FOUND:-,NOT_FOUND 1 161600591 rs61803025 T C 77 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.07468,C/0.9253;PC=0.001;Gene=FCGR3B/NM_001271036.1/0;CC=c.-39A>G;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-39A>G;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+254A>G;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+254A>G;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+254A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:20:0:0:20:670:76.54:74.55:1.99:1.00:1.00:1.00:60:97.7:0:0:57:94:32:NM_000570.4(FCGR3B) c.40+254A>G,NM_000570.4(FCGR3B) c.40+254A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 161600592 rs72704050 G A 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.5421,A/0.4579;Gene=FCGR3B/NM_001271036.1/0;CC=c.-40C>T;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-40C>T;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+253C>T;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+253C>T;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+253C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:11,10:361,285:35.10,0.00:35.26,0.00:-0.16,0.00:1.00,0.00:1.00,0.00:0.68,0.00:60,56:77.8,116.4:0,0:0,0:47,64:104,86:34,35:NM_000570.4(FCGR3B) c.40+253C>T,-:0.45,-:NOT_FOUND,- 1 161600632 rs77109226 A G 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.5365,G/0.4635;Gene=FCGR3B/NM_001271036.1/0;CC=c.-80T>C;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-80T>C;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+213T>C;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+213T>C;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+213T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:35:0:0:21,17:686,561:0.00,52.86:0.00,39.73:0.00,13.14:0.00,1.00:0.00,1.00:0.00,1.00:60,56:33.7,100.4:0,0:0,0:41,38:108,113:18,24:-,NM_000570.4(FCGR3B) c.40+213T>C:-,0.45:-,NOT_FOUND 1 161600649 rs78154415 C G 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.5064,G/0.4936;Gene=FCGR3B/NM_001271036.1/0;CC=c.-97G>C;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-97G>C;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+196G>C;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+196G>C;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+196G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:42:0:0:27,20:909,657:0.00,61.32:0.00,47.03:0.00,14.29:0.00,1.00:0.00,1.00:0.00,1.00:60,56:27.9,98.8:0,0:0,0:47,49:104,101:25,22:-,NM_000570.4(FCGR3B) c.40+196G>C:-,0.46:-,NOT_FOUND 1 161600744 rs74127076 C T 94 lc VT=SNV;PN=T;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.5365,T/0.4635;PC=0.007;Gene=FCGR3B/NM_001271036.1/0;CC=c.-192G>A;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-192G>A;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+101G>A;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+101G>A;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+101G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:65:0:0:50,32:1633,1026:0.00,94.06:0.00,63.64:0.00,30.43:0.00,1.00:0.00,1.00:0.00,1.00:60,56:39.2,99.8:0,0:0,0:79,88:68,60:27,37:-,NM_000570.4(FCGR3B) c.40+101G>A:-,0.45:-,NOT_FOUND 1 161600787 rs3883928 G C 342 lc VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.03195,C/0.9681;Gene=FCGR3B/NM_001271036.1/0;CC=c.-235C>G;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-235C>G;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+58C>G;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+58C>G;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+58C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:93:73:0:0:93:2982:342.42:233.72:108.70:1.00:1.00:1.00:60:72.5:0:0:63:84:42:NM_000570.4(FCGR3B) c.40+58C>G,NM_000570.4(FCGR3B) c.40+58C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 161600792 rs76732376 A C 115 lc VT=SNV;PN=G;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.5086,C/0.4914;NP=974;PC=0.001;Gene=FCGR3B/NM_001271036.1/0;CC=c.-240T>G;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-240T>G;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+53T>G;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+53T>G;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+53T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:101:78:0:0:63,38:1955,1259:0.00,115.00:0.00,79.97:0.00,35.03:0.00,1.00:0.00,1.00:0.00,1.00:60,52:59.6,85.8:0,0:0,0:73,60:78,91:45,42:-,NM_000570.4(FCGR3B) c.40+53T>G:-,NOT_FOUND:-,NOT_FOUND 1 161600832 rs3883934 G T 238 lc VT=SNV;PN=A;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.4998,T/0.5002;Gene=FCGR3B/NM_001271036.1/0;CC=c.-280C>A;VC=5UTR;Gene=FCGR3B/NM_001271037.1/0;CC=c.-280C>A;VC=5UTR;Gene=FCGR3B/NM_001244753.1/0;CC=c.148+13C>A;VC=Intron;Gene=FCGR3B/NM_001271035.1/0;CC=c.148+13C>A;VC=Intron;Gene=FCGR3B/NM_000570.4/1;CC=c.40+13C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:134:107:0:0:57,77:1885,2410:0.00,237.96:0.00,155.87:0.00,82.09:0.00,1.00:0.00,1.00:0.00,1.00:56,60:47.8,55.3:0,0:0,0:41,50:104,90:22,28:-,NM_000570.4(FCGR3B) c.40+13C>A:-,0.52:-,0.608294 1 161600838 . G . . NT END=161600844;NT GT ./. 1 161600993 . C . . NT END=161633031;NT GT ./. 1 161600995 rs34085961 C T 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.5549,T/0.4451;Gene=FCGR3B/NM_001244753.1/0;CC=c.-3G>A;VC=5UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.-3G>A;VC=5UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.-44-67G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:126:54:0:0:81,45:2721,1444:0.00,130.21:0.00,32.26:0.00,97.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,39.4:0,0:0,0:84,94:60,57:27,27:-,NM_000570.4(FCGR3B) c.-44-67G>A:-,0.45:-,NOT_FOUND 1 161601118 rs61803026 G C 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.5126,C/0.4874;Gene=FCGR3B/NM_001244753.1/0;CC=c.-126C>G;VC=5UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.-126C>G;VC=5UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.-44-190C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:40:1:0:0:18,22:532,719:49.81,0.00:-0.13,0.00:49.94,0.00:1.00,0.00:0.63,0.00:1.00,0.00:60,60:99.0,33.6:0,0:0,0:67,112:84,38:33,21:NM_000570.4(FCGR3B) c.-44-190C>G,-:0.47,-:NOT_FOUND,- 1 161601133 rs61803027 T C 131 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.03095,C/0.969;Gene=FCGR3B/NM_001244753.1/0;CC=c.-141A>G;VC=5UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.-141A>G;VC=5UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.-44-205A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:0:0:0:37:1138:131.43:0.00:131.43:1.00:0.00:1.00:60:68.7:0:0:100:51:40:NM_000570.4(FCGR3B) c.-44-205A>G,NM_000570.4(FCGR3B) c.-44-205A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 161601173 rs34322334 A T 43 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.5565,T/0.4435;Gene=FCGR3B/NM_001244753.1/0;CC=c.-181T>A;VC=5UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.-181T>A;VC=5UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.-44-245T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:23:0:0:0:9,14:292,429:0.00,42.86:0.00,0.00:0.00,42.86:0.00,1.00:0.00,0.00:0.00,1.00:60,60:40.2,108.0:0,0:0,0:90,95:61,56:22,14:-,NM_000570.4(FCGR3B) c.-44-245T>A:-,0.44:-,NOT_FOUND 1 161601231 rs35293629 A G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5563,G/0.4437;PC=0.001;Gene=FCGR3B/NM_001244753.1/0;CC=c.-239T>C;VC=5UTR;Gene=FCGR3B/NM_001271035.1/0;CC=c.-239T>C;VC=5UTR;Gene=FCGR3B/NM_000570.4/1;CC=c.-44-303T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,D:15:0:0:1:7,7,1:226,209,15:0.00,20.01,0.64:0.00,0.00,0.00:0.00,20.01,0.64:0.00,0.99,0.00:0.00,0.00,0.00:0.00,0.99,0.00:60,60,60:24.1,120.4,139.0:0,0,0:0,0,0:126,142,38:10,9,112:22,4,0:-,NM_000570.4(FCGR3B) c.-44-303T>C:-,0.43:-,NOT_FOUND 1 161633144 . G . . NT END=161640041;NT GT ./. 1 161640063 . G . . NT END=161641181;NT GT ./. 1 161641384 rs6665610 G A 322 lc VT=SNV;PN=C;NN=T;SST=Single;DP=265;DB;DBA=NA;PAF=G/0.8618,A/0.1382;PC=0.986;Gene=FCGR2B/NM_001002273.2/0;CC=c.333G>A;ProtCh=p.T111=;VC=Silent;Gene=FCGR2B/NM_001002274.2/0;CC=c.336G>A;ProtCh=p.T112=;VC=Silent;Gene=FCGR2B/NM_001002275.2/0;CC=c.333G>A;ProtCh=p.T111=;VC=Silent;Gene=FCGR2B/NM_001190828.1/0;CC=c.315G>A;ProtCh=p.T105=;VC=Silent;Gene=FCGR2B/NM_004001.4/1;CC=c.336G>A;ProtCh=p.T112=;VC=Silent;DM=FCGR2B/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:265:178:0:0:109,1,155:3481,10,4867:322.46,-0.23,0.00:158.01,-0.14,0.00:164.44,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,55:42.0,65.0,10.0:0,0,0:0,0,0:83,89,62:67,43,89:40,0,32:NM_004001.4(FCGR2B) c.336G>A (p.(=)),-:0.14,-:0.182948,- 1 161641440 . G . . NT END=161642764;NT GT ./. 1 161643020 . G . . NT END=161643749;NT GT ./. 1 161643025 rs145835719 C A 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=NA;Gene=FCGR2B/NM_001002273.2/0;CC=c.643+6C>A;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.646+6C>A;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.643+6C>A;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.625+6C>A;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.646+6C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C:159:85:0:0:13,146:407,4636:27.43,0.00:0.46,0.00:26.96,0.00:0.99,0.00:0.87,0.00:1.00,0.00:40,60:64.5,16.6:0,0:0,0:110,89:40,60:29,36:NM_004001.4(FCGR2B) c.646+6C>A,-:0.07,-:NOT_FOUND,- 1 161643044 rs74870676 A G 147 nt VT=SNV;PN=A;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;Gene=FCGR2B/NM_001002273.2/0;CC=c.643+25A>G;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.646+25A>G;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.643+25A>G;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.625+25A>G;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.646+25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:139:67:0:0:88,51:2945,1624:0.00,147.04:0.00,58.81:0.00,88.23:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.2,49.1:0,0:0,0:86,78:64,71:27,35:-,NM_004001.4(FCGR2B) c.646+25A>G:-,NOT_FOUND:-,0.096649 1 161643327 rs112516248 C G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=FCGR2B/NM_001002273.2/0;CC=c.643+308C>G;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.646+308C>G;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.643+308C>G;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.625+308C>G;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.646+308C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,G:8:0:0:0:1,7:36,208:0.00,22.79:0.00,0.00:0.00,22.79:0.00,1.00:0.00,0.00:0.00,1.00:21,42:0.0,47.9:0,0:0,0:8,74:141,77:0,38:-,NM_004001.4(FCGR2B) c.646+308C>G:-,0.08:-,NOT_FOUND 1 161643663 rs7552498 C T 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.777,T/0.223;NP=270;Gene=FCGR2B/NM_001002273.2/0;CC=c.644-87C>T;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.647-87C>T;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.644-87C>T;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.626-87C>T;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.647-87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:15:15:0:0:4,11:128,321:0.00,33.53:0.00,33.82:0.00,-0.29:0.00,1.00:0.00,1.00:0.00,0.82:27,60:7.2,33.7:0,0:0,0:110,126:41,25:2,11:-,NM_004001.4(FCGR2B) c.647-87C>T:-,NOT_FOUND:-,NOT_FOUND 1 161643864 . G . . NT END=161645046;NT GT ./. 1 161644811 rs17413015 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8714,T/0.1286;Gene=FCGR2B/NM_001002273.2/0;CC=c.757+948C>T;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.760+948C>T;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.758-236C>T;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.740-236C>T;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.761-236C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:7:6:0:0:4,3:143,95:0.00,8.85:0.00,5.25:0.00,3.61:0.00,0.69:0.00,0.95:0.00,0.62:60,60:0.0,64.0:0,0:0,0:93,30:58,120:40,30:-,NM_004001.4(FCGR2B) c.761-236C>T:-,0.13:-,NOT_FOUND 1 161644871 rs72480273 A C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8714,C/0.1286;PC=0.007;Gene=FCGR2B/NM_001002273.2/0;CC=c.757+1008A>C;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.760+1008A>C;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.758-176A>C;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.740-176A>C;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.761-176A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C:7:6:0:0:2,5:70,141:0.00,14.64:0.00,11.20:0.00,3.43:0.00,0.98:0.00,1.00:0.00,0.81:60,60:0.0,47.2:0,0:0,0:96,60:53,91:17,30:-,NM_004001.4(FCGR2B) c.761-176A>C:-,0.13:-,NOT_FOUND 1 161644976 rs1674758 C A 46 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8796,A/0.1204;Gene=FCGR2B/NM_001002273.2/0;CC=c.757+1113C>A;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.760+1113C>A;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.758-71C>A;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.740-71C>A;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.761-71C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:24:19:0:0:14,10:465,347:46.10,0.00:34.93,0.00:11.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:35.1,25.7:0,0:0,0:39,33:112,117:17,9:NM_004001.4(FCGR2B) c.761-71C>A,-:0.13,-:NOT_FOUND,- 1 161645052 rs28651835 C T 41 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.9685,T/0.03155;PC=0.006;Gene=FCGR2B/NM_001002273.2/0;CC=c.757+1189C>T;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.760+1189C>T;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.763C>T;ProtCh=p.P255S;VC=Missense;Gene=FCGR2B/NM_001190828.1/0;CC=c.745C>T;ProtCh=p.P249S;VC=Missense;Gene=FCGR2B/NM_004001.4/1;CC=c.766C>T;ProtCh=p.P256S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:31:0:0:28,15:903,462:0.00,41.28:0.00,21.29:0.00,19.99:0.00,1.00:0.00,1.00:0.00,1.00:60,53:25.0,37.1:0,0:0,0:52,54:71,97:27,45:-,NM_004001.4(FCGR2B) c.766C>T (p.Pro256Ser):-,0.02:-,NOT_FOUND 1 161645104 . G . . NT END=161647117;NT GT ./. 1 161645259 rs1674759 T G 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2075,G/0.7925;PC=1.000;Gene=FCGR2B/NM_001002273.2/0;CC=c.757+1396T>G;VC=Intron;Gene=FCGR2B/NM_001002274.2/0;CC=c.760+1396T>G;VC=Intron;Gene=FCGR2B/NM_001002275.2/0;CC=c.814+156T>G;VC=Intron;Gene=FCGR2B/NM_001190828.1/0;CC=c.796+156T>G;VC=Intron;Gene=FCGR2B/NM_004001.4/1;CC=c.817+156T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:256:29.40:0.00:29.40:1.00:0.00:1.00:60:34.5:0:0:57:94:37:NM_004001.4(FCGR2B) c.817+156T>G,NM_004001.4(FCGR2B) c.817+156T>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 161647156 . G . . NT END=161647265;NT GT ./. 1 161647344 . T . . NT END=161677003;NT GT ./. 1 161654693 rs1256287 A G 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4209,G/0.5791;PC=1.000;Gene=RPL31P11/NR_002595.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:21:0:0:10,16:332,546:0.00,54.70:0.00,35.39:0.00,19.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.8,34.9:0,0:0,0:66,69:60,82:26,29:-,NR_002595.1(RPL31P11) n.=:-,0.6:-,NOT_FOUND 1 161654843 rs1256288 C G 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2702,G/0.7298;PC=1.000;Gene=RPL31P11/NR_002595.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:4:0:0:8,8:242,251:0.00,24.10:0.00,8.29:0.00,15.81:0.00,1.00:0.00,0.51:0.00,0.99:60,60:14.5,43.1:0,0:0,0:123,105:27,45:16,39:-,NR_002595.1(RPL31P11) n.=:-,0.72:-,NOT_FOUND 1 161654948 rs6686673 T C 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8912,C/0.1088;PC=1.000;Gene=RPL31P11/NR_002595.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:C,T:12:7:0:0:5,7:175,229:16.35,0.00:8.57,0.00:7.77,0.00:0.92,0.00:0.97,0.00:0.99,0.00:60,60:38.8,18.7:0,0:0,0:61,62:74,89:19,25:NR_002595.1(RPL31P11) n.95A>G,-:0.13,-:NOT_FOUND,- 1 161676904 rs1340977 T C 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.384,C/0.616;Gene=FCRLA/NM_001184866.1/1;CC=c.-100T>C;VC=5UTR;Gene=FCRLA/NM_001184867.1/0;CC=c.-100T>C;VC=5UTR;Gene=FCRLA/NM_001184870.1/0;CC=c.-100T>C;VC=5UTR;Gene=FCRLA/NM_001184871.1/0;CC=c.-100T>C;VC=5UTR;Gene=FCRLA/NM_001184872.1/0;CC=c.-100T>C;VC=5UTR;Gene=FCRLA/NM_001184873.1/0;CC=c.-100T>C;VC=5UTR;Gene=FCRLA/NM_032738.3/0;CC=c.-100T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:29:0:0:15,16:450,499:42.80,0.00:35.39,0.00:7.41,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:67.7,2.6:0,0:0,0:54,46:97,103:38,28:NM_001184866.1(FCRLA) c.-100T>C,-:0.65,-:NOT_FOUND,- 1 161676970 rs1340978 A G 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.3608,C/.,G/0.6392;PC=0.992;Gene=FCRLA/NM_001184866.1/1;CC=c.-34A>G;VC=5UTR;Gene=FCRLA/NM_001184867.1/0;CC=c.-34A>G;VC=5UTR;Gene=FCRLA/NM_001184870.1/0;CC=c.-34A>G;VC=5UTR;Gene=FCRLA/NM_001184871.1/0;CC=c.-34A>G;VC=5UTR;Gene=FCRLA/NM_001184872.1/0;CC=c.-34A>G;VC=5UTR;Gene=FCRLA/NM_001184873.1/0;CC=c.-34A>G;VC=5UTR;Gene=FCRLA/NM_032738.3/0;CC=c.-34A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:54:0:0:34,22:1087,746:0.00,68.81:0.00,54.18:0.00,14.63:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.0,59.4:0,0:0,0:55,62:96,89:28,23:-,NM_001184866.1(FCRLA) c.-34A>G:-,0.67:-,0.636245 1 161677134 . G . . NT END=161680264;NT GT ./. 1 161677350 rs1340979 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3876,G/0.6124;Gene=FCRLA/NM_001184866.1/1;CC=c.130+217A>G;VC=Intron;Gene=FCRLA/NM_001184867.1/0;CC=c.130+217A>G;VC=Intron;Gene=FCRLA/NM_001184870.1/0;CC=c.130+217A>G;VC=Intron;Gene=FCRLA/NM_001184871.1/0;CC=c.130+217A>G;VC=Intron;Gene=FCRLA/NM_001184872.1/0;CC=c.130+217A>G;VC=Intron;Gene=FCRLA/NM_001184873.1/0;CC=c.130+217A>G;VC=Intron;Gene=FCRLA/NM_032738.3/0;CC=c.130+217A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,G:8:0:0:0:5,3:148,97:0.00,8.83:0.00,0.00:0.00,8.83:0.00,0.67:0.00,0.00:0.00,0.67:60,60:12.6,54.3:0,0:0,0:81,73:70,78:17,73:-,NM_001184866.1(FCRLA) c.130+217A>G:-,0.65:-,NOT_FOUND 1 161680258 rs6427618 G A 141 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.5569,A/0.4431;PC=0.284;Gene=FCRLA/NM_001184866.1/1;CC=c.131-7G>A;VC=Intron;Gene=FCRLA/NM_001184867.1/0;CC=c.131-292G>A;VC=Intron;Gene=FCRLA/NM_001184870.1/0;CC=c.131-7G>A;VC=Intron;Gene=FCRLA/NM_001184871.1/0;CC=c.131-2617G>A;VC=Intron;Gene=FCRLA/NM_001184872.1/0;CC=c.131-1466G>A;VC=Intron;Gene=FCRLA/NM_001184873.1/0;CC=c.131-292G>A;VC=Intron;Gene=FCRLA/NM_032738.3/0;CC=c.131-292G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:33:0:0:37:1232:140.84:90.94:49.90:1.00:1.00:1.00:60:39.3:0:0:54:96:25:NM_001184866.1(FCRLA) c.131-7G>A,NM_001184866.1(FCRLA) c.131-7G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 161680283 . G . . NT END=161680549;NT GT ./. 1 161680413 rs112039702 GA G 7 rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=GA/0.8954,G/0.1046;NP=76;Gene=FCRLA/NM_001184866.1/1;CC=c.149-126delA;VC=Intron;Gene=FCRLA/NM_001184867.1/0;CC=c.131-126delA;VC=Intron;Gene=FCRLA/NM_001184870.1/0;CC=c.148+142delA;VC=Intron;Gene=FCRLA/NM_001184871.1/0;CC=c.131-2451delA;VC=Intron;Gene=FCRLA/NM_001184872.1/0;CC=c.131-1300delA;VC=Intron;Gene=FCRLA/NM_001184873.1/0;CC=c.131-126delA;VC=Intron;Gene=FCRLA/NM_032738.3/0;CC=c.131-126delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,GA,I,G:38:25:3:3:1,32,2,3:9,935,86,96:-0.18,0.00,3.65,6.58:-0.22,0.00,3.93,4.45:0.04,0.00,-0.28,2.13:0.00,0.00,0.00,0.38:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.63:60,60,60,60:59.0,28.5,65.0,0.0:0,0,1,0:0,0,0,0:74,79,37,11:55,72,114,140:0,51,26,1:-,NM_001184866.1(FCRLA) c.148+132delA:-,NOT_FOUND:-,NOT_FOUND 1 161680703 . G . . NT END=161680997;NT GT ./. 1 161680868 rs1934908 T C 60 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.6993,C/0.3007;Gene=FCRLA/NM_001184866.1/1;CC=c.302-130T>C;VC=Intron;Gene=FCRLA/NM_001184867.1/0;CC=c.283+166T>C;VC=Intron;Gene=FCRLA/NM_001184870.1/0;CC=c.148+586T>C;VC=Intron;Gene=FCRLA/NM_001184871.1/0;CC=c.131-2007T>C;VC=Intron;Gene=FCRLA/NM_001184872.1/0;CC=c.131-856T>C;VC=Intron;Gene=FCRLA/NM_001184873.1/0;CC=c.283+166T>C;VC=Intron;Gene=FCRLA/NM_032738.3/0;CC=c.284-130T>C;VC=Intron;DM=FCRLA/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:42:20:0:0:22,1,19:623,13,597:60.30,0.17,0.00:31.32,0.29,0.00:28.99,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:58.0,24.0,13.0:0,0,0:0,0,0:72,77,69:71,74,82:42,0,48:NM_001184866.1(FCRLA) c.302-130T>C,-:0.32,-:NOT_FOUND,- 1 161681265 . G . . NT END=161681723;NT GT ./. 1 161682009 . G . . NT END=161682874;NT GT ./. 1 161683136 rs11746 G A 132 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.7029,A/0.2971;Gene=FCRLA/NM_001184866.1/1;CC=c.1115G>A;ProtCh=p.R372Q;VC=Missense;Gene=FCRLA/NM_001184867.1/0;CC=c.830G>A;ProtCh=p.R277Q;VC=Missense;Gene=FCRLA/NM_001184870.1/0;CC=c.695G>A;ProtCh=p.R232Q;VC=Missense;Gene=FCRLA/NM_001184871.1/0;CC=c.392G>A;ProtCh=p.R131Q;VC=Missense;Gene=FCRLA/NM_001184872.1/0;CC=c.677G>A;ProtCh=p.R226Q;VC=Missense;Gene=FCRLA/NM_001184873.1/0;CC=c.545G>A;ProtCh=p.R182Q;VC=Missense;Gene=FCRLA/NM_032738.3/0;CC=c.1097G>A;ProtCh=p.R366Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:87:40:0:0:43,1,43:1370,6,1268:131.58,-0.17,0.00:31.55,-0.08,0.00:100.03,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.6,71.0,18.8:0,0,0:0,0,0:82,141,74:69,6,65:24,0,26:NM_001184866.1(FCRLA) c.1115G>A (p.Arg372Gln),-:0.32,-:0.359603,- 1 161683171 . A . . NT END=161692462;NT GT ./. 1 161692494 . G . . NT END=161692778;NT GT ./. 1 161692800 . G . . NT END=161693156;NT GT ./. 1 161693412 . G . . NT END=161695610;NT GT ./. 1 161695381 rs1847382 G C 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6498,C/0.3502;PC=0.023;Gene=FCRLB/NM_001002901.3/1;CC=c.308-230G>C;VC=Intron;Gene=FCRLB/NM_001288829.1/0;CC=c.308-230G>C;VC=Intron;Gene=FCRLB/NM_001288830.1/0;CC=c.287-230G>C;VC=Intron;Gene=FCRLB/NM_001288831.1/0;CC=c.308-230G>C;VC=Intron;Gene=FCRLB/NM_001288832.1/0;CC=c.287-230G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:C,G:20:19:0:0:13,7:423,174:42.90,0.00:43.36,0.00:-0.46,0.00:1.00,0.00:1.00,0.00:0.77,0.00:60,60:43.1,11.1:0,0:0,0:27,52:123,99:13,22:NM_001002901.2(FCRLB) c.308-230G>C,-:0.37,-:NOT_FOUND,- 1 161695639 rs7520519 G T 312 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=168;DB;DBA=NA;PAF=G/0.07228,T/0.9277;Gene=FCRLB/NM_001002901.3/1;CC=c.336G>T;ProtCh=p.A112=;VC=Silent;Gene=FCRLB/NM_001288829.1/0;CC=c.336G>T;ProtCh=p.A112=;VC=Silent;Gene=FCRLB/NM_001288830.1/0;CC=c.315G>T;ProtCh=p.A105=;VC=Silent;Gene=FCRLB/NM_001288831.1/0;CC=c.336G>T;ProtCh=p.A112=;VC=Silent;Gene=FCRLB/NM_001288832.1/0;CC=c.315G>T;ProtCh=p.A105=;VC=Silent;DM=FCRLB/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:168:120:0:0:72,96:2291,3156:0.00,311.54:0.00,164.35:0.00,147.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,41.1:0,0:0,0:57,81:93,65:29,30:-,NM_001002901.2(FCRLB) c.336G>T (p.(=)):-,0.94:-,0.901584 1 161695878 . G . . NT END=161696492;NT GT ./. 1 161696088 rs1417582 T C 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.4181,C/0.5819;Gene=FCRLB/NM_001002901.3/1;CC=c.574+211T>C;VC=Intron;Gene=FCRLB/NM_001288829.1/0;CC=c.574+211T>C;VC=Intron;Gene=FCRLB/NM_001288830.1/0;CC=c.553+211T>C;VC=Intron;Gene=FCRLB/NM_001288831.1/0;CC=c.574+211T>C;VC=Intron;Gene=FCRLB/NM_001288832.1/0;CC=c.553+211T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:C,T:14:0:0:0:12,2:326,68:35.71,0.00:0.00,0.00:35.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.5,0.0:0,0:0,0:107,127:42,23:31,8:NM_001002901.2(FCRLB) c.574+211T>C,-:0.63,-:NOT_FOUND,- 1 161696782 rs11585450 G C 227 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.6855,A/.,C/0.3145,T/.;Gene=FCRLB/NM_001002901.3/1;CC=c.864G>C;ProtCh=p.P288=;VC=Silent;Gene=FCRLB/NM_001288829.1/0;CC=c.719G>C;ProtCh=p.R240P;VC=Missense;Gene=FCRLB/NM_001288830.1/0;CC=c.698G>C;ProtCh=p.R233P;VC=Missense;Gene=FCRLB/NM_001288831.1/0;CC=c.760G>C;ProtCh=p.G254R;VC=Missense;Gene=FCRLB/NM_001288832.1/0;CC=c.739G>C;ProtCh=p.G247R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:139:56:0:0:79,60:2309,1896:227.11,0.00:54.61,0.00:172.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,9.3:0,0:0,0:104,89:41,61:30,32:NM_001002901.2(FCRLB) c.864G>C (p.(=)),-:0.34,-:0.367189,- 1 161696784 . G . . NT END=161697036;NT GT ./. 1 161696972 . T C 13 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;Gene=FCRLB/NM_001002901.3/1;CC=c.866-65T>C;VC=Intron;Gene=FCRLB/NM_001288829.1/0;CC=c.721-65T>C;VC=Intron;Gene=FCRLB/NM_001288830.1/0;CC=c.700-65T>C;VC=Intron;Gene=FCRLB/NM_001288831.1/0;CC=c.762-65T>C;VC=Intron;Gene=FCRLB/NM_001288832.1/0;CC=c.741-65T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T,I:57:36:1:0:11,45,1:202,1286,28:13.48,0.00,1.19:12.05,0.00,1.39:1.43,0.00,-0.20:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:118.3,27.0,164.0:0,0,0:0,0,0:64,25,55:85,111,96:9,21,0:NM_001002901.2(FCRLB) c.866-65T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 161696998 rs1875763 C G 132 nt VT=SNV;PN=C;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.6779,G/0.3221;Gene=FCRLB/NM_001002901.3/1;CC=c.866-39C>G;VC=Intron;Gene=FCRLB/NM_001288829.1/0;CC=c.721-39C>G;VC=Intron;Gene=FCRLB/NM_001288830.1/0;CC=c.700-39C>G;VC=Intron;Gene=FCRLB/NM_001288831.1/0;CC=c.762-39C>G;VC=Intron;Gene=FCRLB/NM_001288832.1/0;CC=c.741-39C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:90:70:0:0:1,43,46:35,1422,1372:1.82,0.00,132.08:0.88,0.00,73.01:0.94,0.00,59.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:47.0,24.9,51.1:0,0,0:0,0,0:37,32,30:111,106,112:0,22,23:-,NM_001002901.2(FCRLB) c.866-39C>G:-,0.35:-,0.388112 1 161697453 . G . . NT END=161719591;NT GT ./. 1 161719936 . G . . NT END=161721444;NT GT ./. 1 161721351 rs7540096 A G 226 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.4185,G/0.5815;Gene=DUSP12/NM_007240.2/1;CC=c.345-107A>G;VC=Intron;DM=DUSP12/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:57:0:0:59:1976:225.72:185.12:40.60:1.00:1.00:1.00:60:47.1:0:0:48:101:19:NM_007240.1(DUSP12) c.345-107A>G,NM_007240.1(DUSP12) c.345-107A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 161721572 . G . . NT END=161721655;NT GT ./. 1 161721707 rs1063178 C T 112 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.64,T/0.36;PC=1.000;Gene=DUSP12/NM_007240.2/1;CC=c.510C>T;ProtCh=p.Y170=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:80:50:0:0:2,42,36:26,1256,1185:0.30,0.00,112.35:-0.21,0.00,49.01:0.52,0.00,63.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:50.5,10.0,39.4:0,0,0:0,0,0:18,85,73:132,65,72:2,27,34:-,NM_007240.1(DUSP12) c.=:-,0.36:-,0.35399 1 161721775 . G . . NT END=161722157;NT GT ./. 1 161722204 rs1063179 C T 76 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8293,T/0.1707;Gene=DUSP12/NM_007240.2/1;CC=c.624C>T;ProtCh=p.T208=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:28:0:0:15,22:477,767:0.00,76.35:0.00,41.72:0.00,34.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,43.3:0,0:0,0:103,117:48,33:36,22:-,NM_007240.1(DUSP12) c.624C>T (p.(=)):-,0.17:-,0.142495 1 161722255 . G . . NT END=161722864;NT GT ./. 1 161722779 rs397824675 C CAAA 86 idl,nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1975,CA/0.001597,CAA/0.1903,CAAA/0.594,CAAAA/0.01657;DB;DBA=NA;PAF=C/0.1975,CAAA/0.594;DB;DBA=NA;PAF=C/0.1975,CAAA/0.594;DB;DBA=NA;PAF=C/0.1975,CAAA/0.594;NP=1;NP=292;NP=9;PC=0.045;Gene=DUSP12/NM_007240.2/1;CC=c.675-76_675-75insAAA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,C,CAAA:32:37:31:0:2,5,25:64,150,997:4.69,0.00,85.55:4.69,0.00,76.91:0.00,0.00,8.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:39.0,70.4,7.2:0,2,6:0,0,0:0,44,74:151,107,77:0,20,35:-,NM_007240.1(DUSP12) c.675-86_675-85insAAA:-,NOT_FOUND:-,NOT_FOUND 1 161723052 . G . . NT END=161726575;NT GT ./. 1 161726738 . A . . NT END=161736150;NT GT ./. 1 161736035 rs2298019 A G 113 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.08766,G/0.9123;Gene=ATF6/NM_007348.3/1;CC=c.-116A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:33:0:0:33:978:113.37:111.44:1.94:1.00:1.00:1.00:60:37.9:0:0:29:122:21:NM_007348.3(ATF6) c.-116A>G,NM_007348.3(ATF6) c.-116A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 161736233 . G . . NT END=161748033;NT GT ./. 1 161748111 . G . . NT END=161751701;NT GT ./. 1 161751741 rs1058405 A G 48 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.8331,G/0.1669,T/.;PC=1.000;Gene=ATF6/NM_007348.3/1;CC=c.199A>G;ProtCh=p.M67V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:22:0:0:18,17:588,504:0.00,47.89:0.00,20.00:0.00,27.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,40.7:0,0:0,0:77,77:56,73:37,19:-,NM_007348.3(ATF6) c.199A>G (p.Met67Val):-,0.21:-,0.211825 1 161751790 . G . . NT END=161753779;NT GT ./. 1 161753887 . G . . NT END=161761197;NT GT ./. 1 161761328 . G . . NT END=161761913;NT GT ./. 1 161762118 . G . . NT END=161771841;NT GT ./. 1 161772063 . G . . NT END=161789422;NT GT ./. 1 161789609 . G . . NT END=161790859;NT GT ./. 1 161790714 . AT A 7 rn VT=DEL;SST=Single;DP=9;NP=42;PC=0.001;Gene=ATF6/NM_007348.3/1;CC=c.1096-130delT;VC=Intron;DM=ATF6/bZIP_1;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:AT,A:9:9:0:3:6,3:137,78:0.00,6.76:0.00,6.76:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:17.8,77.7:0,0:0,0:93,28:38,123:36,25:-,NM_007348.3(ATF6) c.1096-145delT:-,NOT_FOUND:-,NOT_FOUND 1 161790952 . G . . NT END=161816238;NT GT ./. 1 161816051 rs34257317 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9926,G/0.007388;PC=0.006;Gene=ATF6/NM_007348.3/1;CC=c.1188-188A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:14:14:0:0:10,4:329,108:0.00,9.07:0.00,9.07:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:60,60:3.7,41.2:0,0:0,0:63,25:87,124:44,15:-,NM_007348.3(ATF6) c.1188-188A>G:-,0.01:-,NOT_FOUND 1 161816371 . G . . NT END=161821511;NT GT ./. 1 161820931 rs397765776 T TACACAC 9 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4808,TAC/0.5192,TACAC/.;DB;DBA=NA;PAF=T/0.4808,TAC/0.5192;NP=1;NP=2;NP=3;NP=31;NP=86;Gene=ATF6/NM_007348.3/1;CC=c.1320-551_1320-550insACACAC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:T,TACACAC:9:8:3:0:6,3:188,99:0.00,8.84:0.00,9.11:0.00,-0.26:0.00,0.64:0.00,0.94:0.00,0.63:60,60:39.2,18.7:0,0:0,0:35,44:115,107:19,22:-,NM_007348.3(ATF6) c.1320-581_1320-580insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 161821023 rs71093129 AACACAC A 9 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=ATF6/NM_007348.3/1;CC=c.1320-452_1320-447delACACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:AACACAC,A:9:6:0:6:5,4:85,95:0.00,8.78:0.00,3.01:0.00,5.77:0.00,0.85:0.00,0.96:0.00,0.96:60,60:83.6,59.5:1,0:0,0:112,97:25,46:8,5:-,NM_007348.3(ATF6) c.1320-488_1320-483delACACAC:-,NOT_FOUND:-,NOT_FOUND 1 161821626 . G . . NT END=161823013;NT GT ./. 1 161822959 rs2340717 C T 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.03395,T/0.9661;PC=0.001;Gene=ATF6/NM_007348.3/1;CC=c.1434-55C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:18:0:0:21:630:72.90:48.40:24.50:1.00:1.00:1.00:60:42.3:0:0:34:115:15:NM_007348.3(ATF6) c.1434-55C>T,NM_007348.3(ATF6) c.1434-55C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 161823011 rs2257107 T A 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.599,A/0.401;PC=0.985;Gene=ATF6/NM_007348.3/1;CC=c.1434-3T>A;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:33:0:0:17,28:548,909:49.95,0.00:29.71,0.00:20.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.6,19.4:0,0:0,0:43,57:107,89:23,28:NM_007348.3(ATF6) c.1434-3T>A,-:0.44,-:0.493847,- 1 161823114 . G . . NT END=161829996;NT GT ./. 1 161823197 rs397717177 G GT 15 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3926,GT/0.6074,GTT/.;DB;DBA=NA;PAF=G/0.3926,GT/0.6074;NP=1836;Gene=ATF6/NM_007348.3/1;CC=c.1533+86dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:G,GT:14:1:5:0:9,5:301,168:0.00,15.22:0.00,-0.19:0.00,15.41:0.00,0.90:0.00,0.57:0.00,0.99:60,60:0.0,0.0:0,0:0,0:123,58:28,93:20,15:-,NM_007348.3(ATF6) c.1533+84_1533+85insT:-,0.65:-,NOT_FOUND 1 161829973 rs575629390 C CT 11 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=16;Gene=ATF6/NM_007348.3/1;CC=c.1534-11dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CT,D:35:30:6:3:27,5,3:900,182,94:0.00,11.35,6.58:0.00,5.48,4.27:0.00,5.87,2.30:0.00,0.78,0.00:0.00,0.96,0.00:0.00,0.91,0.00:60,60,60:11.7,29.0,17.3:0,1,0:0,0,0:47,46,42:102,102,109:30,35,11:-,NM_007348.3(ATF6) c.1534-24_1534-23insT:-,NOT_FOUND:-,NOT_FOUND 1 161830068 . G . . NT END=161832987;NT GT ./. 1 161832834 rs2340719 G A 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.03914,A/0.9609;Gene=ATF6/NM_007348.3/1;CC=c.1605-154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:229:26.62:26.62:0.00:1.00:1.00:0.00:60:37.5:0:0:39:110:28:NM_007348.3(ATF6) c.1605-154G>A,NM_007348.3(ATF6) c.1605-154G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 161833103 . G . . NT END=161882085;NT GT ./. 1 161882171 . G . . NT END=161928235;NT GT ./. 1 161928002 rs6695574 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4409,T/0.5591;Gene=ATF6/NM_007348.3/1;CC=c.1805-234C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:47.8:0:0:35:115:5:NM_007348.3(ATF6) c.1805-234C>T,NM_007348.3(ATF6) c.1805-234C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 161928327 rs9482 A G 246 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.4413,G/0.5587;Gene=ATF6/NM_007348.3/1;CC=c.1896A>G;ProtCh=p.S632=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:71:54:0:0:71:2122:245.52:132.00:113.52:1.00:1.00:1.00:60:36.7:0:0:79:72:36:NM_007348.3(ATF6) c.1896A>G (p.(=)),NM_007348.3(ATF6) c.1896A>G (p.(=)):0.6,0.6:0.649469,0.649469 1 161928445 . C . . NT END=161953464;NT GT ./. 1 161928568 rs13401 G A 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4413,A/0.5587;Gene=ATF6/NM_007348.3/1;CC=c.*124G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:321:37.27:0.00:37.27:1.00:0.00:1.00:60:57.6:0:0:87:64:42:NM_007348.3(ATF6) c.*124G>A,NM_007348.3(ATF6) c.*124G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 161954067 . C . . NT END=161954593;NT GT ./. 1 161954365 rs9427066 C G 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2103,G/0.7897;Gene=OLFML2B/NM_001297713.1/1;CC=c.1654+229G>C;VC=Intron;Gene=OLFML2B/NM_015441.2/0;CC=c.1651+229G>C;VC=Intron;DM=OLFML2B/OLF;DM=OLFML2B/OLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:6:0:0:12:398:45.52:23.06:22.46:1.00:1.00:1.00:60:60.2:0:0:58:90:42:NM_015441.1(OLFML2B) c.1651+229G>C,NM_015441.1(OLFML2B) c.1651+229G>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 161954385 rs56084426 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7965,G/0.2035;Gene=OLFML2B/NM_001297713.1/1;CC=c.1654+209T>C;VC=Intron;Gene=OLFML2B/NM_015441.2/0;CC=c.1651+209T>C;VC=Intron;DM=OLFML2B/OLF;DM=OLFML2B/OLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:10:6:0:0:5,5:170,123:0.00,11.59:0.00,5.64:0.00,5.95:0.00,0.95:0.00,0.73:0.00,0.51:60,60:64.8,67.2:0,0:0,0:59,85:92,64:13,60:-,NM_015441.1(OLFML2B) c.1651+209T>C:-,0.2:-,NOT_FOUND 1 161954448 rs12726227 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6703,T/0.3297;Gene=OLFML2B/NM_001297713.1/1;CC=c.1654+146G>A;VC=Intron;Gene=OLFML2B/NM_015441.2/0;CC=c.1651+146G>A;VC=Intron;DM=OLFML2B/OLF;DM=OLFML2B/OLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:12:0:0:7,8:221,232:0.00,22.47:0.00,19.43:0.00,3.04:0.00,1.00:0.00,1.00:0.00,0.91:60,60:33.6,52.1:0,0:0,0:53,68:98,81:39,43:-,NM_015441.1(OLFML2B) c.1651+146G>A:-,0.39:-,NOT_FOUND 1 161954771 . C . . NT END=161967614;NT GT ./. 1 161967681 rs2499836 A G 192 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=A/0.3668,G/0.6332;PC=0.010;Gene=OLFML2B/NM_001297713.1/1;CC=c.1411T>C;ProtCh=p.W471R;VC=Missense;Gene=OLFML2B/NM_015441.2/0;CC=c.1408T>C;ProtCh=p.W470R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:144:112:0:0:80,64:2502,2042:0.00,191.73:0.00,117.12:0.00,74.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,38.4:0,0:0,0:67,51:80,92:31,26:-,NM_015441.1(OLFML2B) c.1408T>C (p.Trp470Arg):-,0.67:-,0.65416 1 161968140 . C . . NT END=161969902;NT GT ./. 1 161968297 rs12756866 T G 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.481,G/0.519;Gene=OLFML2B/NM_001297713.1/1;CC=c.953-158A>C;VC=Intron;Gene=OLFML2B/NM_015441.2/0;CC=c.950-158A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:1:0:0:13,13:397,397:38.07,0.00:1.59,0.00:36.48,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:40.8,9.3:0,0:0,0:107,116:44,35:21,20:NM_015441.1(OLFML2B) c.950-158A>C,-:0.56,-:NOT_FOUND,- 1 161970135 . C . . NT END=161976086;NT GT ./. 1 161976234 rs12022536 A G 243 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.4093,C/.,G/0.5907;Gene=OLFML2B/NM_001297713.1/1;CC=c.576T>C;ProtCh=p.N192=;VC=Silent;Gene=OLFML2B/NM_015441.2/0;CC=c.576T>C;ProtCh=p.N192=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C,G:67:32:0:0:1,66:12,2124:0.22,243.32:0.22,71.86:0.00,171.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,41.8:0,0:0,0:110,90:40,47:0,31:NM_015441.1(OLFML2B) c.=,NM_015441.1(OLFML2B) c.=:0.65,0.65:0.717438,0.717438 1 161976264 . C . . NT END=161987189;NT GT ./. 1 161976272 rs34863451 G GA 80 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2538,GA/0.7294,GAA/0.01677,GAAA/.;NP=1105;Gene=OLFML2B/NM_001297713.1/1;CC=c.547-10dupT;VC=Intron;Gene=OLFML2B/NM_015441.2/0;CC=c.547-10dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:40:17:28:2:13,25,2:382,879,60:0.00,79.83,4.02:0.00,24.43,1.99:0.00,55.41,2.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:44.8,45.0,33.0:0,3,0:0,0,0:137,99,112:4,44,39:13,21,22:-,NM_015441.1(OLFML2B) c.547-10_547-9insT:-,NOT_FOUND:-,NOT_FOUND 1 161987298 . C . . NT END=161989708;NT GT ./. 1 161989973 . C . . NT END=161993046;NT GT ./. 1 161993221 . G . . NT END=162039967;NT GT ./. 1 162040073 . G . . NT END=162124194;NT GT ./. 1 162124267 . G . . NT END=162257133;NT GT ./. 1 162191322 rs369325483 GCGCACA G 12 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=22;Gene=NOS1AP/NM_001164757.1/0;CC=c.178-65810_178-65805delGCACAC;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.178-65810_178-65805delGCACAC;VC=Intron;DM=NOS1AP/PID;DM=NOS1AP/PID;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:6:4:170:11.70:5.50:6.20:0.93:0.97:0.97:60:100.5:2:0:50:92:29:NM_014697.2(NOS1AP) c.178-65811_178-65806delCGCACA,NM_014697.2(NOS1AP) c.178-65811_178-65806delCGCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 162191412 rs6683968 T G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5383,G/0.4617;PC=0.022;Gene=NOS1AP/NM_001164757.1/0;CC=c.178-65722T>G;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.178-65722T>G;VC=Intron;DM=NOS1AP/PID;DM=NOS1AP/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:3:0:0:5:129:15.12:5.58:9.54:1.00:1.00:1.00:60:53.4:0:0:110:41:11:NM_014697.2(NOS1AP) c.178-65722T>G,NM_014697.2(NOS1AP) c.178-65722T>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 162210034 . AGT A 8 idl,rn VT=DEL;SST=Single;DP=11;Gene=NOS1AP/NM_001164757.1/0;CC=c.178-47061_178-47060delGT;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.178-47061_178-47060delGT;VC=Intron;DM=NOS1AP/PID;DM=NOS1AP/PID;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:AGT,I,A:9:9:1:5:5,1,3:151,34,141:0.00,2.63,8.25:0.00,1.31,4.98:0.00,1.32,3.27:0.00,0.00,0.60:0.00,0.00,0.91:0.00,0.00,0.89:60,60,60:17.2,0.0,4.3:0,0,2:0,0,0:115,55,37:35,87,114:15,0,29:-,NM_014697.2(NOS1AP) c.178-47099_178-47098delGT:-,NOT_FOUND:-,NOT_FOUND 1 162248454 rs66465338 CGTGT C 11 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=4;PC=0.003;Gene=NOS1AP/NM_001164757.1/0;CC=c.178-8635_178-8632delGTGT;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.178-8635_178-8632delGTGT;VC=Intron;DM=NOS1AP/PID;DM=NOS1AP/PID;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:CGTGT,C:12:10:0:5:8,4:240,157:0.00,11.29:0.00,5.61:0.00,5.68:0.00,0.79:0.00,0.95:0.00,0.92:60,60:32.9,36.0:0,1:0,0:90,58:36,89:20,23:-,NM_014697.2(NOS1AP) c.178-8679_178-8676delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 162257227 . G . . NT END=162270422;NT GT ./. 1 162270497 . G . . NT END=162302806;NT GT ./. 1 162302916 . G . . NT END=162313624;NT GT ./. 1 162313385 rs3751286 T A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.9213,A/0.07867;PC=0.001;Gene=NOS1AP/NM_001164757.1/0;CC=c.439-240T>A;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.454-240T>A;VC=Intron;DM=NOS1AP/PID;DM=NOS1AP/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,T:15:15:0:0:4,11:87,341:6.82,0.00:6.82,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:60,60:69.5,13.7:0,0:0,0:64,29:85,122:6,16:NM_014697.2(NOS1AP) c.454-240T>A,-:0.07,-:NOT_FOUND,- 1 162313518 rs3751285 A G 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6456,G/0.3544;Gene=NOS1AP/NM_001164757.1/0;CC=c.439-107A>G;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.454-107A>G;VC=Intron;DM=NOS1AP/PID;DM=NOS1AP/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:26:0:0:15,13:474,393:0.00,37.07:0.00,28.86:0.00,8.21:0.00,1.00:0.00,1.00:0.00,0.98:60,60:25.6,47.3:0,0:0,0:50,66:101,85:42,43:-,NM_014697.2(NOS1AP) c.454-107A>G:-,0.36:-,NOT_FOUND 1 162313597 rs347278 T C 276 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.07408,C/0.9259;Gene=NOS1AP/NM_001164757.1/0;CC=c.439-28T>C;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.454-28T>C;VC=Intron;DM=NOS1AP/PID;DM=NOS1AP/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:73:60:0:0:73:2415:276.28:188.66:87.62:1.00:1.00:1.00:60:46.3:0:0:47:104:30:NM_014697.2(NOS1AP) c.454-28T>C,NM_014697.2(NOS1AP) c.454-28T>C:0.93,0.93:0.919345,0.919345 1 162313735 rs3751284 C T 353 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.5691,T/0.4309;Gene=NOS1AP/NM_001164757.1/0;CC=c.549C>T;ProtCh=p.S183=;VC=Silent;Gene=NOS1AP/NM_014697.2/1;CC=c.564C>T;ProtCh=p.S188=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:100:69:0:0:1,2,97:10,44,3109:0.09,0.00,352.97:0.10,0.00,166.05:-0.00,0.00,186.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:83.0,20.0,37.2:0,0,0:0,0,0:69,102,57:82,48,89:0,36,31:NM_014697.2(NOS1AP) c.564C>T (p.(=)),NM_014697.2(NOS1AP) c.564C>T (p.(=)):0.42,0.42:0.334307,0.334307 1 162313767 . G . . NT END=162324976;NT GT ./. 1 162325144 . G . . NT END=162326749;NT GT ./. 1 162326927 . G . . NT END=162332772;NT GT ./. 1 162332783 . a . . NT END=162333541;NT GT ./. 1 162333990 rs1963645 A G 447 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.6963,G/0.3037;Gene=NOS1AP/NM_001164757.1/0;CC=c.925-1204A>G;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.940-1204A>G;VC=Intron;Gene=NOS1AP/NM_001126060.1/0;CC=c.-1150A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:123:70:0:0:123:3882:446.62:185.97:260.65:1.00:1.00:1.00:60:49.2:0:0:75:75:37:NM_014697.2(NOS1AP) c.940-1204A>G,NM_014697.2(NOS1AP) c.940-1204A>G:0.28,0.28:NOT_FOUND,NOT_FOUND 1 162334100 rs905720 T C 397 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=T/0.3844,C/0.6156;PC=0.042;Gene=NOS1AP/NM_001164757.1/0;CC=c.925-1094T>C;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.940-1094T>C;VC=Intron;Gene=NOS1AP/NM_001126060.1/0;CC=c.-1040T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:106:58:0:0:104,1,1:3501,10,34:397.00,0.09,0.00:177.15,-0.00,0.00:219.85,0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:52.5,124.0,12.0:0,0,0:0,0,0:73,121,54:77,28,97:38,0,0:NM_014697.2(NOS1AP) c.940-1094T>C,NM_014697.2(NOS1AP) c.940-1094T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 1 162335360 . G . . NT END=162336841;NT GT ./. 1 162335424 rs1964052 T C 310 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.2808,C/0.7192;Gene=NOS1AP/NM_001164757.1/0;CC=c.1090+65T>C;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.1105+65T>C;VC=Intron;Gene=NOS1AP/NM_001126060.1/0;CC=c.220+65T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:82:22:0:0:82:2712:310.29:48.60:261.69:1.00:1.00:1.00:60:44.4:0:0:106:41:25:NM_014697.2(NOS1AP) c.1105+65T>C,NM_014697.2(NOS1AP) c.1105+65T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 162335500 rs348623 T C 80 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.008586,C/0.9914;NP=1328;Gene=NOS1AP/NM_001164757.1/0;CC=c.1090+141T>C;VC=Intron;Gene=NOS1AP/NM_014697.2/1;CC=c.1105+141T>C;VC=Intron;Gene=NOS1AP/NM_001126060.1/0;CC=c.220+141T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:0:0:0:22:692:79.68:0.00:79.68:1.00:0.00:1.00:60:70.9:0:0:111:39:21:NM_014697.2(NOS1AP) c.1105+141T>C,NM_014697.2(NOS1AP) c.1105+141T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 162337258 . G . . NT END=162343837;NT GT ./. 1 162344390 rs164159 A G 359 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.003794,C/.,G/0.9962;NP=3464;PC=0.834;Gene=C1orf111/NM_182581.3/1;CC=c.234T>C;ProtCh=p.D78=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:96:40:0:0:96:3137:359.39:96.01:263.39:1.00:1.00:1.00:60:40.7:0:0:95:50:32:NM_182581.3(C1orf111) c.234T>C (p.(=)),NM_182581.3(C1orf111) c.234T>C (p.(=)):0.99,0.99:0.995464,0.995464 1 162344407 . C . . NT END=162345079;NT GT ./. 1 162344558 rs164180 G A 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8027,A/0.1973;PC=0.007;Gene=C1orf111/NM_182581.3/1;CC=c.218-152C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:428:48.96:0.00:48.96:1.00:0.00:1.00:60:39.7:0:0:110:41:21:NM_182581.3(C1orf111) c.218-152C>T,NM_182581.3(C1orf111) c.218-152C>T:0.19,0.19:NOT_FOUND,NOT_FOUND 1 162345091 rs164181 G A 194 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.0615,A/0.9385;Gene=C1orf111/NM_182581.3/1;CC=c.206C>T;ProtCh=p.A69V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A:53:45:0:0:53:1687:193.89:135.71:58.18:1.00:1.00:1.00:60:45.1:0:0:38:102:18:NM_182581.3(C1orf111) c.206C>T (p.Ala69Val),NM_182581.3(C1orf111) c.206C>T (p.Ala69Val):0.95,0.95:0.935338,0.935338 1 162345194 . C . . NT END=162346477;NT GT ./. 1 162345199 rs164182 T G 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.9629,G/0.03714;PC=0.032;Gene=C1orf111/NM_182581.3/1;CC=c.104-6A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:47:29:0:0:20,27:643,839:59.91,0.00:27.12,0.00:32.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,14.1:0,0:0,0:95,98:53,50:30,25:NM_182581.3(C1orf111) c.104-6A>C,-:0.05,-:0.091189,- 1 162346954 . C . . NT END=162348703;NT GT ./. 1 162348637 rs164187 C T 63 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8936,A/.,T/0.1064;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:27:0:0:8,21:236,603:0.00,62.84:0.00,52.57:0.00,10.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.4,65.5:0,0:0,0:71,24:78,126:26,17:-,NM_001135240.1(C1orf226) c.-8-u59C>T:-,0.12:-,NOT_FOUND 1 162348662 rs164188 C T 146 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.004193,T/0.9958;NP=949 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G,T:40:36:0:0:1,39:12,1282:0.32,146.31:0.32,106.95:0.00,39.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:117.0,52.1:0,0:0,0:127,36:24,112:0,26:NM_001135240.1(C1orf226) c.-8-u34C>T,NM_001135240.1(C1orf226) c.-8-u34C>T:0.99,0.99:0.995182,0.995182 1 162348822 . G . . NT END=162351519;NT GT ./. 1 162351454 rs12407972 A G 73 nt VT=SNV;PN=T;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.7843,G/0.2157;Gene=C1orf226/NM_001135240.1/1;CC=c.119-227A>G;VC=Intron;DM=C1orf226/DUF4628 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:58:0:0:34,24:1041,790:0.00,73.43:0.00,65.18:0.00,8.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,39.6:0,0:0,0:37,52:105,98:22,37:-,NM_001135240.1(C1orf226) c.119-227A>G:-,0.18:-,NOT_FOUND 1 162352009 . G . . NT END=162352971;NT GT ./. 1 162352111 rs164189 G A 59 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.6124,A/0.3876;PC=0.014;Gene=C1orf226/NM_001135240.1/1;CC=c.446+103G>A;VC=Intron;Gene=C1orf226/NM_001085375.1/0;CC=c.317+103G>A;VC=Intron;DM=C1orf226/DUF4628 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:6:0:0:20,29:634,946:58.53,0.00:-0.80,0.00:59.32,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:40.2,12.3:0,0:0,0:112,107:38,43:30,33:NM_001135240.1(C1orf226) c.446+103G>A,-:0.41,-:NOT_FOUND,- 1 162352267 rs7521280 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8273,G/0.1727;Gene=C1orf226/NM_001135240.1/1;CC=c.446+259A>G;VC=Intron;Gene=C1orf226/NM_001085375.1/0;CC=c.317+259A>G;VC=Intron;DM=C1orf226/DUF4628 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:7:0:0:0:4,3:140,87:0.00,8.05:0.00,0.00:0.00,8.05:0.00,0.69:0.00,0.00:0.00,0.69:60,60:5.8,39.3:0,0:0,0:116,87:35,62:20,10:-,NM_001135240.1(C1orf226) c.446+259A>G:-,0.16:-,NOT_FOUND 1 162353474 . A . . NT END=162367069;NT GT ./. 1 162353726 rs164417 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4018,C/0.5982;PC=0.005;Gene=C1orf226/NM_001085375.1/0;CC=c.*253T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:140:16.36:0.00:16.36:1.00:0.00:1.00:60:49.0:0:0:109:42:15:NM_182581.3(C1orf111) c.-64-u7082A>G,NM_182581.3(C1orf111) c.-64-u7082A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 162367103 rs34001279 G T 168 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.8864,C/.,T/0.1136;PC=0.914;Gene=SH2D1B/NM_053282.4/1;CC=c.366C>A;ProtCh=p.N122K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:T:46:33:0:0:46:1463:168.17:78.19:89.97:1.00:1.00:1.00:60:43.7:0:0:73:55:33:NM_053282.4(SH2D1B) c.366C>A (p.Asn122Lys),NM_053282.4(SH2D1B) c.366C>A (p.Asn122Lys):0.1,0.1:0.088421,0.088421 1 162367106 . C . . NT END=162368712;NT GT ./. 1 162367235 rs164124 G A 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4127,A/0.5873;Gene=SH2D1B/NM_053282.4/1;CC=c.364-130C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:0:0:0:15:485:55.65:0.00:55.65:1.00:0.00:1.00:60:54.1:0:0:121:30:20:NM_053282.4(SH2D1B) c.364-130C>T,NM_053282.4(SH2D1B) c.364-130C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 162368878 . C . . NT END=162372528;NT GT ./. 1 162369140 rs348625 G C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.002796,C/0.9972;Gene=SH2D1B/NM_053282.4/1;CC=c.199-263C>G;VC=Intron;DM=SH2D1B/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:32.8:0:0:99:51:1:NM_053282.4(SH2D1B) c.199-263C>G,NM_053282.4(SH2D1B) c.199-263C>G:1,1:NOT_FOUND,NOT_FOUND 1 162369546 rs61809470 G C 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8906,C/0.1094;PC=0.013;Gene=SH2D1B/NM_053282.4/1;CC=c.199-669C>G;VC=Intron;DM=SH2D1B/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:334:38.17:38.17:0.00:1.00:1.00:0.00:60:42.5:0:0:58:92:27:NM_053282.4(SH2D1B) c.199-669C>G,NM_053282.4(SH2D1B) c.199-669C>G:0.1,0.1:NOT_FOUND,NOT_FOUND 1 162369901 rs189436 T A 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4273,A/0.5727;PC=0.380;Gene=SH2D1B/NM_053282.4/1;CC=c.199-1024A>T;VC=Intron;DM=SH2D1B/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:407:46.86:0.00:46.86:1.00:0.00:1.00:60:37.9:0:0:111:39:17:NM_053282.4(SH2D1B) c.199-1024A>T,NM_053282.4(SH2D1B) c.199-1024A>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 162372593 . C . . NT END=162381672;NT GT ./. 1 162372703 rs28703122 C CT 8 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9902,T/0.009784;Gene=SH2D1B/NM_053282.4/1;CC=c.135-112_135-111insA;VC=Intron;DM=SH2D1B/SH2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,C,CT:12:3:3:0:1,8,3:10,197,97:0.20,0.00,8.34:-0.02,0.00,3.21:0.22,0.00,5.13:0.00,0.00,0.59:0.00,0.00,0.61:0.00,0.00,0.59:60,60,60:134.0,30.9,0.0:0,0,0:0,0,0:27,96,90:110,54,61:0,33,5:-,NM_053282.4(SH2D1B) c.135-112_135-111insA:-,NOT_FOUND:-,NOT_FOUND 1 162372800 rs11589974 G A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3285,A/0.6715;PC=0.006;Gene=SH2D1B/NM_053282.4/1;CC=c.135-208C>T;VC=Intron;DM=SH2D1B/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:218:25.56:0.00:25.56:1.00:0.00:1.00:60:54.9:0:0:94:57:29:NM_053282.4(SH2D1B) c.135-208C>T,NM_053282.4(SH2D1B) c.135-208C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 1 162373482 rs373126940 GAAGA G 17 sb,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GAAGA/0.8812,G/0.1188;DB;DBA=NA;PAF=GAAGA/0.8812,G/0.1188;NP=8;PC=0.008;Gene=SH2D1B/NM_053282.4/1;CC=c.135-894_135-891delTCTT;VC=Intron;DM=SH2D1B/SH2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:5:5:149:17.28:15.69:1.59:1.00:1.00:1.00:60:0.0:3:0:74:57:27:NM_053282.4(SH2D1B) c.135-894_135-891delTCTT,NM_053282.4(SH2D1B) c.135-894_135-891delTCTT:0.1,0.1:NOT_FOUND,NOT_FOUND 1 162373491 . TACAC T 8 rn VT=DEL;SST=Single;DP=5;NP=6;PC=0.012;Gene=SH2D1B/NM_053282.4/1;CC=c.135-903_135-900delGTGT;VC=Intron;DM=SH2D1B/SH2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:TACAC,T:5:5:0:3:2,3:68,84:0.00,8.37:0.00,6.99:0.00,1.38:0.00,0.78:0.00,0.78:0.00,0.73:60,60:0.0,3.0:2,3:0,0:117,52:26,64:11,0:-,NM_053282.4(SH2D1B) c.135-903_135-900delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 162381807 . G . . NT END=162467594;NT GT ./. 1 162421170 rs464869 C G 125 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8546,G/0.1454;PC=0.136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:31:0:0:33:1092:124.92:115.33:9.59:1.00:1.00:1.00:60:70.9:0:0:35:110:25:chr1 g.162421169C>G (intergenic),chr1 g.162421169C>G (intergenic):0.15,0.15:NOT_FOUND,NOT_FOUND 1 162421228 rs442604 C T 137 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.8546,T/0.1454;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C,G,T:49:44:0:0:5,1,43:68,34,1232:0.00,2.14,137.04:0.00,1.06,106.31:0.00,1.08,30.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,44,60:76.4,91.0,74.0:0,0,0:0,0,0:122,22,60:29,64,84:2,0,29:chr1 g.162421227C>T (intergenic),chr1 g.162421227C>T (intergenic):0.15,0.15:NOT_FOUND,NOT_FOUND 1 162421294 rs113526019 A C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:A,C,T:72:56:0:0:63,7,2:1876,190,27:0.00,12.54,0.11:0.00,6.05,0.44:0.00,6.49,-0.33:0.00,0.88,0.00:0.00,0.98,0.00:0.00,0.96,0.00:60,60,60:75.2,111.4,104.0:0,0,0:0,0,0:61,15,142:74,136,9:23,8,2:-,chr1 g.162421293A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 162421303 . GAT G 17 nt VT=DEL;SST=Single;DP=77;PC=0.006;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:GAT,G:77:60:0:12:68,9:2024,252:0.00,17.48:0.00,10.98:0.00,6.50:0.00,0.97:0.00,1.00:0.00,0.99:60,60:78.9,137.1:0,0:0,0:69,23:72,128:23,7:-,chr1 g.162421304_162421305delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 162421333 rs183836703 C T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:75:52:0:0:64,11:1934,309:0.00,22.66:0.00,13.25:0.00,9.41:0.00,0.99:0.00,1.00:0.00,1.00:60,60:84.0,112.7:0,0:0,0:96,44:46,107:20,16:-,chr1 g.162421332C>T (intergenic):-,0.05:-,NOT_FOUND 1 162421347 rs372336732 T G 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=137;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:73:49:0:0:2,19,52:20,551,1585:-0.13,46.26,0.00:0.03,25.87,0.00:-0.16,20.39,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:87.5,98.7,80.5:0,0,0:0,0,0:97,48,106:25,102,35:16,28,20:chr1 g.162421346T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 162421379 rs375922723 A G 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=26;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:55:26:0:0:20,34,1:606,987,13:0.00,99.33,0.14:0.00,31.40,-0.07:0.00,67.93,0.22:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:90.2,114.6,178.0:0,0,0:0,0,0:85,127,68:65,17,83:33,15,0:-,chr1 g.162421378A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 162421384 rs370527436 A G 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=11;PC=0.035 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:48:25:0:0:21,1,26:641,13,720:0.00,0.14,70.20:0.00,0.26,22.20:0.00,-0.12,48.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,60:89.7,137.0,130.3:0,0,0:0,0,0:79,116,122:71,35,16:30,0,17:-,chr1 g.162421383A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 162421397 . T C 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:36:22:0:0:1,15,20:18,487,589:0.55,45.49,0.00:-0.10,29.05,0.00:0.65,16.44,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,60,60:118.0,165.8,76.1:0,0,0:0,0,0:131,119,83:-25,22,61:0,13,26:chr1 g.162421396T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 162421416 . G A 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:21:0:0:10,21:312,584:27.56,0.00:19.66,0.00:7.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:172.8,68.7:0,0:0,0:128,92:12,55:7,35:chr1 g.162421415G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 162421421 rs545507369 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,G:26:19:0:0:7,19:198,556:16.59,0.00:11.36,0.00:5.23,0.00:0.96,0.00:0.99,0.00:0.99,0.00:60,60:195.6,67.3:0,0:0,0:130,82:19,53:4,34:chr1 g.162421420G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 162421425 . A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:24:16:0:0:18,6:606,121:0.00,9.10:0.00,5.86:0.00,3.24:0.00,0.92:0.00,0.75:0.00,0.98:60,60:68.1,183.2:0,0:0,0:99,133:47,16:29,4:-,chr1 g.162421424A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 162421434 . C T 6 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,G,T:22:15:0:0:17,1,4:542,12,89:0.00,0.13,6.40:0.00,0.32,4.09:0.00,-0.19,2.31:0.00,0.00,0.70:0.00,0.00,0.90:0.00,0.00,0.89:60,52,60:63.1,207.0,214.2:0,0,0:0,0,0:107,139,141:40,12,7:20,0,1:-,chr1 g.162421433C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 162467518 rs72705765 T C 76 nt VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.9782,C/0.02177;Gene=UHMK1/NM_001184763.1/1;CC=c.46+432T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:53:0:0:25,28:801,911:76.11,0.00:72.97,0.00:3.14,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:66.2,40.9:0,0:0,0:52,35:99,110:29,25:NM_175866.4(UHMK1) c.-196-u77T>C,-:0.03,-:NOT_FOUND,- 1 162467556 rs60701613 G GC 77 rn VT=INS;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.7857,GC/0.2143;DB;DBA=NA;PAF=G/0.7857,GC/0.2143;NP=11;PC=0.006;Gene=UHMK1/NM_001184763.1/1;CC=c.46+477dupC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GC:72:68:29:0:2,41,29:37,1225,842:1.37,0.00,77.43:1.42,0.00,63.33:-0.06,0.00,14.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:137.5,34.4,43.8:2,0,0:0,0,0:78,42,41:60,108,109:13,24,32:-,NM_175866.4(UHMK1) c.-196-u39_-196-u38insC:-,0.23:-,NOT_FOUND 1 162468059 . G . . NT END=162469744;NT GT ./. 1 162469475 rs10919550 A G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5837,G/0.4163,T/.;Gene=UHMK1/NM_001184763.1/1;CC=c.47-270A>G;VC=Intron;Gene=UHMK1/NM_144624.2/0;CC=c.269-270A>G;VC=Intron;Gene=UHMK1/NM_175866.4/0;CC=c.269-270A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:5:5:0:0:1,4:34,138:0.00,14.62:0.00,14.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,55.5:0,0:0,0:84,68:67,82:0,6:-,NM_175866.4(UHMK1) c.269-270A>G:-,0.42:-,NOT_FOUND 1 162470038 . G . . NT END=162470702;NT GT ./. 1 162470164 rs59937530 AGGG A 11 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=AGGG/0.5539,A/0.4461;NP=539;PC=0.001;Gene=UHMK1/NM_001184763.1/1;CC=c.339+129_339+131delGGG;VC=Intron;Gene=UHMK1/NM_144624.2/0;CC=c.561+129_561+131delGGG;VC=Intron;Gene=UHMK1/NM_175866.4/0;CC=c.561+129_561+131delGGG;VC=Intron;DM=UHMK1/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:AGGG,A:26:0:0:5:21,5:712,141:0.00,10.96:0.00,0.00:0.00,10.96:0.00,0.82:0.00,0.00:0.00,0.82:60,60:14.1,56.0:0,0:0,0:117,94:33,56:25,11:-,NM_175866.4(UHMK1) c.561+128_561+130delGGG:-,0.45:-,NOT_FOUND 1 162470191 rs2342714 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5541,T/0.4459;PC=0.003;Gene=UHMK1/NM_001184763.1/1;CC=c.339+154C>T;VC=Intron;Gene=UHMK1/NM_144624.2/0;CC=c.561+154C>T;VC=Intron;Gene=UHMK1/NM_175866.4/0;CC=c.561+154C>T;VC=Intron;DM=UHMK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,T:18:0:0:0:13,5:416,158:0.00,13.57:0.00,0.00:0.00,13.57:0.00,0.87:0.00,0.00:0.00,0.87:60,60:9.0,56.0:0,0:0,0:121,118:29,32:19,11:-,NM_175866.4(UHMK1) c.561+154C>T:-,0.45:-,NOT_FOUND 1 162470895 . G . . NT END=162473543;NT GT ./. 1 162470961 rs5778280 A AT 33 idl,rn VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.5687,AT/0.4313;DB;DBA=NA;PAF=A/0.5687,AT/0.4313;NP=2;NP=607;PC=0.192;Gene=UHMK1/NM_001184763.1/1;CC=c.531+78_531+79insT;VC=Intron;Gene=UHMK1/NM_144624.2/0;CC=c.753+78_753+79insT;VC=Intron;Gene=UHMK1/NM_175866.4/0;CC=c.753+78_753+79insT;VC=Intron;DM=UHMK1/Pkinase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:42:9:14:1:29,12,1:841,432,15:0.00,32.57,0.20:0.00,4.30,-0.06:0.00,28.27,0.26:0.00,1.00,0.00:0.00,0.91,0.00:0.00,1.00,0.00:60,60,60:18.6,16.4,59.0:2,2,0:0,0,0:110,81,27:41,69,124:26,25,0:-,NM_175866.4(UHMK1) c.753+67_753+68insT:-,NOT_FOUND:-,NOT_FOUND 1 162473401 . CAAA C 12 idl,rn VT=DEL;SST=Single;DP=16;NP=1;PC=0.006;Gene=UHMK1/NM_001184763.1/1;CC=c.532-125_532-123delAAA;VC=Intron;Gene=UHMK1/NM_144624.2/0;CC=c.754-125_754-123delAAA;VC=Intron;Gene=UHMK1/NM_175866.4/0;CC=c.754-125_754-123delAAA;VC=Intron;DM=UHMK1/Pkinase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:CAAA,C:13:16:0:7:9,4:272,233:0.00,11.58:0.00,11.58:0.00,0.00:0.00,0.75:0.00,0.75:0.00,0.00:60,60:37.1,43.0:0,3:0,0:50,60:100,72:32,33:-,NM_175866.4(UHMK1) c.754-142_754-140delAAA:-,NOT_FOUND:-,NOT_FOUND 1 162473639 . G . . NT END=162482289;NT GT ./. 1 162482367 . G . . NT END=162482514;NT GT ./. 1 162482614 . G . . NT END=162487891;NT GT ./. 1 162487981 . G . . NT END=162492193;NT GT ./. 1 162492341 . T . . NT END=162535858;NT GT ./. 1 162536139 . G . . NT END=162546566;NT GT ./. 1 162546772 . G . . NT END=162549217;NT GT ./. 1 162549394 . G . . NT END=162551076;NT GT ./. 1 162551250 . G . . NT END=162557264;NT GT ./. 1 162551486 rs12736865 T C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7414,C/0.2586;PC=0.005;Gene=UAP1/NM_003115.4/1;CC=c.834+237T>C;VC=Intron;DM=UAP1/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:175:19.88:0.00:19.88:1.00:0.00:1.00:60:35.0:0:0:85:65:18:NM_003115.4(UAP1) c.834+237T>C,NM_003115.4(UAP1) c.834+237T>C:0.29,0.29:NOT_FOUND,NOT_FOUND 1 162557459 . G . . NT END=162558482;NT GT ./. 1 162558624 . G . . NT END=162560112;NT GT ./. 1 162560302 . G . . NT END=162562521;NT GT ./. 1 162560360 rs113405147 TTC T 19 rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=2;Gene=UAP1/NM_003115.4/1;CC=c.1358+79_1358+80delCT;VC=Intron;DM=UAP1/UDPGP;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,TTC,T:38:2:0:8:1,29,8:8,937,239:-0.19,0.00,19.33:-0.01,0.00,-0.10:-0.18,0.00,19.43:0.00,0.00,0.97:0.00,0.00,0.48:0.00,0.00,0.97:60,60,60:71.0,7.3,3.9:0,0,0:0,0,0:69,111,102:71,40,48:0,18,10:-,NM_003115.4(UAP1) c.1358+60_1358+61delTC:-,NOT_FOUND:-,NOT_FOUND 1 162562573 . G . . NT END=162567581;NT GT ./. 1 162562775 rs1510267 A G 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2724,G/0.7276;PC=1.000;Gene=UAP1/NM_003115.4/1;CC=c.1358+2474A>G;VC=Intron;DM=UAP1/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:382:44.36:0.00:44.36:1.00:0.00:1.00:60:38.1:0:0:63:81:58:NM_003115.4(UAP1) c.1358+2474A>G,NM_003115.4(UAP1) c.1358+2474A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 162567649 . G . . NT END=162569060;NT GT ./. 1 162569154 . A . . NT END=162688826;NT GT ./. 1 162654602 rs200340669 AACACACAC A,AACACACACAC 8 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:5:AACACACAC,AACACACACAC,A:5:3:1:4:1,1,3:30,34,79:0.00,3.08,8.25:0.00,3.18,2.54:0.00,-0.10,5.70:0.00,0.00,0.78:0.00,0.00,0.94:0.00,0.00,0.97:60,60,60:0.0,0.0,6.7:0,0,0:0,0,0:54,99,88:95,52,57:0,0,5:NM_001014796.1(DDR2) c.-107-20239_-107-20232delACACACAC,NM_001014796.1(DDR2) c.-107-20233_-107-20232dupAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 162688936 . G . . NT END=162688980;NT GT ./. 1 162689005 . G . . NT END=162711375;NT GT ./. 1 162711503 . G . . NT END=162722884;NT GT ./. 1 162722846 rs1632311 C G 128 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.02955,G/0.9704;Gene=DDR2/NM_001014796.1/1;CC=c.83-39C>G;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.83-39C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:31:0:0:34:1117:127.85:94.35:33.50:1.00:1.00:1.00:60:39.7:0:0:42:96:26:NM_001014796.1(DDR2) c.83-39C>G,NM_001014796.1(DDR2) c.83-39C>G:0.98,0.98:0.973012,0.973012 1 162722988 . G . . NT END=162724413;NT GT ./. 1 162724646 . G . . NT END=162724945;NT GT ./. 1 162724848 rs142828577 G A 61 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.997,A/0.002995;NP=73;Gene=DDR2/NM_001014796.1/1;CC=c.418-98G>A;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.418-98G>A;VC=Intron;DM=DDR2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:30:0:0:19,17:623,524:60.55,0.00:44.43,0.00:16.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.3,4.9:0,0:0,0:52,26:99,125:42,13:NM_001014796.1(DDR2) c.418-98G>A,-:0.0037,-:NOT_FOUND,- 1 162725094 . G . . NT END=162725453;NT GT ./. 1 162725560 . G . . NT END=162729585;NT GT ./. 1 162725655 rs1115570 A C 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.07208,C/0.9279;Gene=DDR2/NM_001014796.1/1;CC=c.671+96A>C;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.671+96A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:0:0:0:18:526:61.16:0.00:61.16:1.00:0.00:1.00:60:30.7:0:0:119:30:20:NM_001014796.1(DDR2) c.671+96A>C,NM_001014796.1(DDR2) c.671+96A>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 162729770 . G . . NT END=162731000;NT GT ./. 1 162731245 . G . . NT END=162735790;NT GT ./. 1 162731404 rs2684867 C T 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.02875,T/0.9712;Gene=DDR2/NM_001014796.1/1;CC=c.1099+160C>T;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1099+160C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:0:0:0:25:774:89.25:0.00:89.25:1.00:0.00:1.00:60:36.5:0:0:101:50:30:NM_001014796.1(DDR2) c.1099+160C>T,NM_001014796.1(DDR2) c.1099+160C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 162735854 . G . . NT END=162737018;NT GT ./. 1 162736690 rs1780001 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4673,T/0.5327;PC=0.004;Gene=DDR2/NM_001014796.1/1;CC=c.1163-329C>T;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1163-329C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:148:17.18:17.18:0.00:1.00:1.00:0.00:60:62.0:0:0:30:121:11:NM_001014796.1(DDR2) c.1163-329C>T,NM_001014796.1(DDR2) c.1163-329C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 162736734 rs1780002 G C 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.05451,C/0.9455;Gene=DDR2/NM_001014796.1/1;CC=c.1163-285G>C;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1163-285G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:342:38.97:38.97:0.00:1.00:1.00:0.00:60:62.3:0:0:34:103:23:NM_001014796.1(DDR2) c.1163-285G>C,NM_001014796.1(DDR2) c.1163-285G>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 162736821 rs5778290 G GA 28 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2698,GA/0.7302;DB;DBA=NA;PAF=G/0.2698,GA/0.7302;NP=767;Gene=DDR2/NM_001014796.1/1;CC=c.1163-187_1163-186insA;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1163-187_1163-186insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,GA,D:12:15:11:1:3,8,1:92,371,30:0.00,27.74,2.21:0.00,27.74,2.21:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:52.3,63.4,32.0:0,3,0:0,0,0:110,75,84:12,76,66:3,33,0:-,NM_001014796.1(DDR2) c.1163-198_1163-197insA:-,NOT_FOUND:-,NOT_FOUND 1 162736851 rs5778292 G GAAAA 37 idl,nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.03115,GAA/0.344,GAAAA/0.4637;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.03115,GA/0.01857,GAA/0.344,GAAA/0.06729,GAAAA/0.4637,GAAAAA/0.07528;NP=2;NP=269;NP=4;NP=55;PC=0.005;Gene=DDR2/NM_001014796.1/1;CC=c.1163-167_1163-164dupAAAA;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1163-167_1163-164dupAAAA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,GAAAA:13:18:16:0:2,11:70,518:0.00,37.37:0.00,37.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:59.0,61.9:0,5:0,0:140,61:5,89:3,45:-,NM_001014796.1(DDR2) c.1163-168_1163-167insAAAA:-,NOT_FOUND:-,NOT_FOUND 1 162736856 rs4038297 C A 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.03115,A/0.9688;DB;DBA=NA;PAF=NA;NP=12;NP=2874;PC=0.009;Gene=DDR2/NM_001014796.1/1;CC=c.1163-163C>A;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1163-163C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:588:67.38:67.38:0.00:1.00:1.00:0.00:60:43.0:0:0:71:80:47:NM_001014796.1(DDR2) c.1163-163C>A,NM_001014796.1(DDR2) c.1163-163C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 162737150 . G . . NT END=162740091;NT GT ./. 1 162737338 rs1039875 G C 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.05451,C/0.9455;PC=0.048;Gene=DDR2/NM_001014796.1/1;CC=c.1293+189G>C;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1293+189G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:349:40.56:0.00:40.56:1.00:0.00:1.00:60:50.2:0:0:102:48:26:NM_001014796.1(DDR2) c.1293+189G>C,NM_001014796.1(DDR2) c.1293+189G>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 162737608 rs2665499 G T 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3518,T/0.6482;Gene=DDR2/NM_001014796.1/1;CC=c.1293+459G>T;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1293+459G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:G,T:8:5:0:0:4,4:141,80:0.00,7.44:0.00,2.11:0.00,5.32:0.00,0.87:0.00,0.96:0.00,0.73:60,60:47.8,84.5:0,0:0,0:35,119:101,10:20,22:-,NM_001014796.1(DDR2) c.1293+459G>T:-,0.46:-,NOT_FOUND 1 162740303 . G . . NT END=162741813;NT GT ./. 1 162740327 rs1780003 T C 178 nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.05451,A/.,C/0.9455;Gene=DDR2/NM_001014796.1/1;CC=c.1504+25T>C;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1504+25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:53:19:0:0:53:1534:178.12:42.75:135.37:1.00:1.00:1.00:60:49.2:0:0:112:37:23:NM_001014796.1(DDR2) c.1504+25T>C,NM_001014796.1(DDR2) c.1504+25T>C:0.95,0.95:0.947563,0.947563 1 162742038 . G . . NT END=162743258;NT GT ./. 1 162742180 rs1704762 T C 60 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.05451,C/0.9455;Gene=DDR2/NM_001014796.1/1;CC=c.1728+143T>C;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1728+143T>C;VC=Intron;DM=DDR2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:0:0:0:18:514:59.89:0.00:59.89:1.00:0.00:1.00:60:32.4:0:0:106:43:30:NM_001014796.1(DDR2) c.1728+143T>C,NM_001014796.1(DDR2) c.1728+143T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 162743387 . G . . NT END=162745441;NT GT ./. 1 162743418 rs1355287 G T 310 nt VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.007588,C/.,T/0.9924;NP=3484;PC=0.707;Gene=DDR2/NM_001014796.1/1;CC=c.1856+32G>T;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.1856+32G>T;VC=Intron;DM=DDR2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:81:31:0:0:81:2715:310.10:70.27:239.84:1.00:1.00:1.00:60:39.1:0:0:99:45:32:NM_001014796.1(DDR2) c.1856+32G>T,NM_001014796.1(DDR2) c.1856+32G>T:1,1:0.994772,0.994772 1 162745634 . G . . NT END=162745925;NT GT ./. 1 162746161 . G . . NT END=162748369;NT GT ./. 1 162748147 rs1848861 G A 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.05451,A/0.9455;Gene=DDR2/NM_001014796.1/1;CC=c.2284-223G>A;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.2284-223G>A;VC=Intron;DM=DDR2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:408:46.52:46.52:0.00:1.00:1.00:0.00:60:40.4:0:0:44:106:38:NM_001014796.1(DDR2) c.2284-223G>A,NM_001014796.1(DDR2) c.2284-223G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 162748520 . G . . NT END=162749901;NT GT ./. 1 162748588 rs907074 C A 163 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.03115,A/0.9688;Gene=DDR2/NM_001014796.1/1;CC=c.2433+69C>A;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.2433+69C>A;VC=Intron;DM=DDR2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:14:0:0:47:1409:163.23:28.85:134.37:1.00:1.00:1.00:60:41.4:0:0:105:43:28:NM_001014796.1(DDR2) c.2433+69C>A,NM_001014796.1(DDR2) c.2433+69C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 162749761 rs1510315 T C 82 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.05451,C/0.9455;Gene=DDR2/NM_001014796.1/1;CC=c.2434-141T>C;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.2434-141T>C;VC=Intron;DM=DDR2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:23:0:0:23:712:82.15:80.36:1.79:1.00:1.00:1.00:60:34.3:0:0:50:101:37:NM_001014796.1(DDR2) c.2434-141T>C,NM_001014796.1(DDR2) c.2434-141T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 162749855 . TTC T 13 rn VT=DEL;SST=Single;DP=79;NP=61;Gene=DDR2/NM_001014796.1/1;CC=c.2434-31_2434-30delCT;VC=Intron;Gene=DDR2/NM_006182.2/0;CC=c.2434-31_2434-30delCT;VC=Intron;DM=DDR2/Pkinase_Tyr;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:TTC,T:78:65:0:7:72,6:2250,227:0.00,13.09:0.00,13.79:0.00,-0.70:0.00,0.78:0.00,0.97:0.00,0.81:60,60:17.4,20.2:0,1:0,0:47,54:102,97:28,45:-,NM_001014796.1(DDR2) c.2434-46_2434-45delTC:-,NOT_FOUND:-,NOT_FOUND 1 162750037 . T . . NT END=162760590;NT GT ./. 1 162750208 rs1972086 C T 37 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.05451,T/0.9455;NP=129;PC=0.653;Gene=DDR2/NM_001014796.1/1;CC=c.*172C>T;VC=3UTR;Gene=DDR2/NM_006182.2/0;CC=c.*172C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:323:37.47:0.00:37.47:1.00:0.00:1.00:60:58.5:7:0:123:28:11:NM_001014796.1(DDR2) c.=,NM_001014796.1(DDR2) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 162750210 rs5778295 CTT C 18 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CTT/0.05431,C/0.9457;NP=95;Gene=DDR2/NM_001014796.1/1;CC=c.*187_*188delTT;VC=3UTR;Gene=DDR2/NM_006182.2/0;CC=c.*187_*188delTT;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:CTT,C:8:0:0:7:2,6:69,208:0.00,18.34:0.00,0.00:0.00,18.34:0.00,1.00:0.00,0.00:0.00,1.00:60,60:101.5,55.3:0,1:0,0:140,120:9,30:4,5:-,NM_001014796.1(DDR2) c.*175T[12]:-,NOT_FOUND:-,NOT_FOUND 1 162760551 rs1704754 C T 143 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.4687,T/0.5313;Gene=HSD17B7/NM_001304512.1/0;CC=c.-40C>T;VC=5UTR;Gene=HSD17B7/NM_001304513.1/0;CC=c.-40C>T;VC=5UTR;Gene=HSD17B7/NM_016371.3/1;CC=c.-40C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:33:0:0:40:1241:143.09:95.81:47.28:1.00:1.00:1.00:58:67.8:0:0:43:105:16:NM_016371.2(HSD17B7) c.-40C>T,NM_016371.2(HSD17B7) c.-40C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 162760554 rs71519246 T C 162 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=HSD17B7/NM_001304512.1/0;CC=c.-37T>C;VC=5UTR;Gene=HSD17B7/NM_001304513.1/0;CC=c.-37T>C;VC=5UTR;Gene=HSD17B7/NM_016371.3/1;CC=c.-37T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:36:0:0:43:1417:162.15:114.36:47.79:1.00:1.00:1.00:60:65.7:0:0:46:100:27:NM_016371.2(HSD17B7) c.=,NM_016371.2(HSD17B7) c.=:0.85,0.85:NOT_FOUND,NOT_FOUND 1 162760626 . G . . NT END=162762448;NT GT ./. 1 162762653 . G . . NT END=162766374;NT GT ./. 1 162762821 rs59454424 C T 12 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=20;NP=8;PC=0.016;Gene=HSD17B7/NM_001304512.1/0;CC=c.239+169C>T;VC=Intron;Gene=HSD17B7/NM_001304513.1/0;CC=c.239+169C>T;VC=Intron;Gene=HSD17B7/NM_016371.3/1;CC=c.239+169C>T;VC=Intron;DM=HSD17B7/adh_short;DM=HSD17B7/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T,I:7:1:4:1:2,4,1:61,126,122:0.00,12.47,1.89:0.00,0.00,0.99:0.00,12.47,0.90:0.00,0.84,0.00:0.00,0.60,0.00:0.00,0.84,0.00:60,60,60:0.0,117.8,32.0:0,1,3:0,0,0:138,67,67:10,84,83:11,48,31:-,NM_016371.2(HSD17B7) c.239+169C>T:-,NOT_FOUND:-,NOT_FOUND 1 162762921 rs35444310 TC T 21 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TC/0.05531,T/0.9447;NP=541;PC=0.043;Gene=HSD17B7/NM_001304512.1/0;CC=c.239+271delC;VC=Intron;Gene=HSD17B7/NM_001304513.1/0;CC=c.239+271delC;VC=Intron;Gene=HSD17B7/NM_016371.3/1;CC=c.239+271delC;VC=Intron;DM=HSD17B7/adh_short;DM=HSD17B7/adh_short;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:1:0:6:6:184:21.26:3.08:18.18:1.00:1.00:1.00:56:17.3:0:0:112:38:15:NM_016371.2(HSD17B7) c.239+270delC,NM_016371.2(HSD17B7) c.239+270delC:0.88,0.88:NOT_FOUND,NOT_FOUND 1 162766468 . G . . NT END=162767591;NT GT ./. 1 162766476 rs1780019 C T 123 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.4659,T/0.5341;Gene=HSD17B7/NM_001304512.1/0;CC=c.332+9C>T;VC=Intron;Gene=HSD17B7/NM_001304513.1/0;CC=c.332+9C>T;VC=Intron;Gene=HSD17B7/NM_016371.3/1;CC=c.332+9C>T;VC=Intron;DM=HSD17B7/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:14:0:0:33:1071:122.73:32.03:90.70:1.00:1.00:1.00:60:42.9:0:0:94:57:28:NM_016371.2(HSD17B7) c.332+9C>T,NM_016371.2(HSD17B7) c.332+9C>T:0.57,0.57:0.625019,0.625019 1 162767707 . G . . NT END=162769532;NT GT ./. 1 162769728 . G . . NT END=162773220;NT GT ./. 1 162773326 . G . . NT END=162774056;NT GT ./. 1 162773514 rs10917598 G C 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8021,C/0.1979;Gene=HSD17B7/NM_016371.3/1;CC=c.747+189G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:C,G:6:0:0:0:5,1:173,22:18.52,0.00:0.00,0.00:18.52,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,27:36.6,127.0:0,0:0,0:136,85:15,66:7,0:NM_016371.2(HSD17B7) c.747+189G>C,-:0.25,-:NOT_FOUND,- 1 162774114 . G . . NT END=162775183;NT GT ./. 1 162774236 rs77482353 A G 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=HSD17B7/NM_016371.3/1;CC=c.804+123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:297:34.45:0.00:34.45:1.00:0.00:1.00:50:34.4:0:0:107:44:34:NM_016371.2(HSD17B7) c.804+123A>G,NM_016371.2(HSD17B7) c.804+123A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 1 162775267 rs12563263 C T 102 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.8171,T/0.1829;PC=0.043;Gene=HSD17B7/NM_016371.3/1;CC=c.888C>T;ProtCh=p.Y296=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:16:0:0:27:887:101.57:48.30:53.28:1.00:1.00:1.00:60:39.6:0:0:100:44:24:NM_016371.2(HSD17B7) c.888C>T (p.(=)),NM_016371.2(HSD17B7) c.888C>T (p.(=)):0.23,0.23:0.274615,0.274615 1 162775283 . G . . NT END=162782087;NT GT ./. 1 162782211 . t . . NT END=162822911;NT GT ./. 1 162822771 rs2684878 A C 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.227,C/0.773 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:519:59.96:59.96:0.00:1.00:1.00:0.00:60:46.7:0:0:67:84:32:chr1 g.162822770A>C (intergenic),chr1 g.162822770A>C (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 1 162822807 rs56072121 G A 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9856,A/0.01438 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:19:0:0:10,10:335,340:32.25,0.00:28.77,0.00:3.48,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:57.5,26.5:0,0:0,0:65,88:85,62:44,35:chr1 g.162822806G>A (intergenic),-:0.02,-:NOT_FOUND,- 1 162822955 . A . . NT END=162824004;NT GT ./. 1 162825150 . C . . NT END=162825421;NT GT ./. 1 162825549 . C . . NT END=162829249;NT GT ./. 1 162829449 . C . . NT END=162830797;NT GT ./. 1 162830822 . G . . NT END=163038724;NT GT ./. 1 163038613 rs7515900 C A 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5451,A/0.4549;Gene=RGS4/NM_001102445.2/1;CC=c.-112C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:23:0:0:10,13:327,412:30.64,0.00:30.64,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.1,9.2:0,0:0,0:43,45:108,106:20,35:NM_001102445.2(RGS4) c.-112C>A,-:0.44,-:NOT_FOUND,- 1 163038853 rs10917671 G A 94 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.5443,A/0.4557;Gene=RGS4/NM_001102445.2/1;CC=c.58+71G>A;VC=Intron;Gene=RGS4/NM_005613.5/0;CC=c.-422G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:42:0:0:32,30:971,931:93.73,0.00:58.48,0.00:35.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,9.0:0,0:0,0:42,84:106,67:35,35:NM_001102445.2(RGS4) c.58+71G>A,-:0.44,-:0.437336,- 1 163039319 . G . . NT END=163041694;NT GT ./. 1 163041934 . G . . NT END=163042184;NT GT ./. 1 163042020 rs5778312 C CAA 70 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.03435,CAA/0.9657;DB;DBA=NA;PAF=C/0.03435,CAA/0.9657;DB;DBA=NA;PAF=C/0.03435,CAA/0.9657;NP=938;PC=0.003;Gene=RGS4/NM_001102445.2/1;CC=c.336-164_336-163dupAA;VC=Intron;Gene=RGS4/NM_005613.5/0;CC=c.45-164_45-163dupAA;VC=Intron;Gene=RGS4/NM_001113381.1/0;CC=c.45-164_45-163dupAA;VC=Intron;Gene=RGS4/NM_001113380.1/0;CC=c.-11+88_-11+89dupAA;VC=Intron;DM=RGS4/RGS;DM=RGS4/RGS;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:CAA:19:6:19:0:19:605:69.56:22.56:46.99:1.00:1.00:1.00:70:15.1:0:0:93:57:36:NM_001102445.2(RGS4) c.336-165_336-164insAA,NM_001102445.2(RGS4) c.336-165_336-164insAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 163042290 . G . . NT END=163042594;NT GT ./. 1 163042657 . G . . NT END=163043245;NT GT ./. 1 163043413 . G . . NT END=163044110;NT GT ./. 1 163044351 . T . . NT END=163117131;NT GT ./. 1 163117294 . C . . NT END=163122327;NT GT ./. 1 163122507 . C . . NT END=163131704;NT GT ./. 1 163122528 rs1354939 G C 119 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.4425,C/0.5575;Gene=RGS5/NM_001195303.2/0;CC=c.-107-22C>G;VC=Intron;Gene=RGS5/NM_001254749.1/0;CC=c.218-22C>G;VC=Intron;Gene=RGS5/NM_003617.3/1;CC=c.218-22C>G;VC=Intron;Gene=RGS5/NM_001254748.1/0;CC=c.-107-22C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C,G:35:13:0:0:34,1:1043,8:118.86,0.00:28.47,0.00:90.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,95.0:0,0:0,0:106,11:41,140:23,0:NM_003617.3(RGS5) c.218-22C>G,NM_003617.3(RGS5) c.218-22C>G:0.55,0.55:0.513385,0.513385 1 163131767 . C . . NT END=163138047;NT GT ./. 1 163138159 . C . . NT END=163172581;NT GT ./. 1 163172626 . T . . NT END=163295841;NT GT ./. 1 163174099 rs10616125 CCACA C 16 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=42;Gene=RGS5/NM_001254748.1/0;CC=c.-280-35945_-280-35942delTGTG;VC=Intron;Gene=LOC101928404/NR_110699.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:CCACA,C:6:4:0:5:1,5:33,152:0.00,16.41:0.00,11.09:0.00,5.31:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,14.2:0,0:0,0:92,62:58,73:0,19:-,NM_003617.3(RGS5) c.-338-u1140_-338-u1137delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 163208383 rs4657254 G A 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6496,A/0.3504;PC=1.000;Gene=RGS5/NM_001254748.1/0;CC=c.-281+67640C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G:5:5:0:0:4,1:126,12:13.46,0.00:13.46,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:31.5,0.0:0,0:0,0:27,110:123,40:20,0:NM_001254748.1(RGS5) c.-281+67640C>T,-:0.35,-:NOT_FOUND,- 1 163295678 rs6660538 A C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4435,C/0.5565;Gene=NUF2/NM_031423.3/1;CC=c.-20-144A>C;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.-20-144A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,C:11:11:0:0:4,7:130,224:0.00,22.60:0.00,22.60:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.2,32.0:0,0:0,0:31,64:119,87:19,52:-,NM_145697.2(NUF2) c.-20-144A>C:-,0.52:-,NOT_FOUND 1 163295965 . G . . NT END=163297277;NT GT ./. 1 163296194 rs71743324 T TA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5873,TA/0.1536,TAA/0.2592,TAAA/.;DB;DBA=NA;PAF=T/0.5873,TAA/0.2592,TAAA/.;NP=14;NP=27;PC=0.064;Gene=NUF2/NM_031423.3/1;CC=c.123+242dupA;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.123+242dupA;VC=Intron;DM=NUF2/Nuf2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:T,TA:5:0:4:0:2,3:38,129:0.00,9.55:0.00,0.00:0.00,9.55:0.00,0.73:0.00,0.00:0.00,0.73:60,60:111.5,22.7:0,1:0,0:140,85:8,63:6,44:-,NM_145697.2(NUF2) c.123+230_123+231insA:-,NOT_FOUND:-,NOT_FOUND 1 163296889 rs56803466 C CTTT 11 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=6;PC=0.001;Gene=NUF2/NM_031423.3/1;CC=c.124-389_124-388insTTT;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.124-389_124-388insTTT;VC=Intron;DM=NUF2/Nuf2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTTT:3:5:5:0:3:158:10.56:12.39:-1.83:0.78:0.78:0.73:60:73.0:5:0:76:75:13:NM_145697.2(NUF2) c.124-389_124-388insTTT,NM_145697.2(NUF2) c.124-389_124-388insTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 163296929 rs114082880 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9854,T/0.01458;Gene=NUF2/NM_031423.3/1;CC=c.124-349C>T;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.124-349C>T;VC=Intron;DM=NUF2/Nuf2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:7:5:0:0:1,6:35,187:0.00,20.31:0.00,11.79:0.00,8.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,44.0:1,0:0,0:96,12:53,139:0,3:-,NM_145697.2(NUF2) c.124-349C>T:-,0.02:-,NOT_FOUND 1 163297353 . G . . NT END=163298017;NT GT ./. 1 163298095 . G . . NT END=163298635;NT GT ./. 1 163298698 . G . . NT END=163306540;NT GT ./. 1 163306370 rs2055747 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5713,G/0.4287;PC=0.002;Gene=NUF2/NM_031423.3/1;CC=c.338-171C>G;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.338-171C>G;VC=Intron;DM=NUF2/Nuf2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G:4:4:0:0:1,3:33,105:0.00,10.95:0.00,10.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,35.0:0,0:0,0:6,54:145,97:0,28:-,NM_145697.2(NUF2) c.338-171C>G:-,0.38:-,NOT_FOUND 1 163306639 . G . . NT END=163307809;NT GT ./. 1 163307754 rs4657262 A G 14 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9852,G/0.01478;Gene=NUF2/NM_031423.3/1;CC=c.436-56A>G;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.436-56A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,G:10:8:0:0:5,5:162,142:0.00,13.56:0.00,12.77:0.00,0.78:0.00,0.95:0.00,0.87:0.00,0.96:60,60:0.0,28.4:0,0:0,0:17,32:113,104:13,26:-,NM_145697.2(NUF2) c.436-56A>G:-,0.02:-,0.038782 1 163307884 . G . . NT END=163309170;NT GT ./. 1 163308027 rs11330875 TA T,TAA 8 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.5501,T/0.4499;NP=44;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:13:TA,TAA,T:5:0:1:5:1,1,3:7,22,143:0.00,1.77,8.01:0.00,0.00,0.00:0.00,1.77,8.01:0.00,0.00,0.69:0.00,0.00,0.00:0.00,0.00,0.69:60,60,60:72.0,115.0,43.3:0,0,2:0,0,0:31,99,106:94,51,44:0,0,21:NM_145697.2(NUF2) c.509+145delA,NM_145697.2(NUF2) c.509+145dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 163309219 rs1509022 A T 72 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.5715,T/0.4285;PC=0.525;Gene=NUF2/NM_031423.3/1;CC=c.558A>T;ProtCh=p.G186=;VC=Silent;Gene=NUF2/NM_145697.2/0;CC=c.558A>T;ProtCh=p.G186=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:31:0:0:20,24:660,738:0.00,72.00:0.00,25.34:0.00,46.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,47.8:0,0:0,0:87,73:63,60:28,29:-,NM_145697.2(NUF2) c.558A>T (p.(=)):-,0.38:-,0.416885 1 163309268 . G . . NT END=163310153;NT GT ./. 1 163309302 rs2999852 C T 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.1098,T/0.8902;Gene=NUF2/NM_031423.3/1;CC=c.606+35C>T;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.606+35C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:8:0:0:22:715:81.99:19.18:62.81:1.00:1.00:1.00:60:48.1:0:0:104:46:24:NM_145697.2(NUF2) c.606+35C>T,NM_145697.2(NUF2) c.606+35C>T:0.9,0.9:0.882882,0.882882 1 163310217 . G . . NT END=163313522;NT GT ./. 1 163313661 . G . . NT END=163315467;NT GT ./. 1 163313810 rs12144254 T C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6845,C/0.3155;PC=0.008;Gene=NUF2/NM_031423.3/1;CC=c.807+150T>C;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.807+150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:0:0:0:10,11:294,352:27.84,0.00:0.00,0.00:27.84,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:45.8,7.8:0,0:0,0:125,100:25,51:13,16:NM_145697.2(NUF2) c.807+150T>C,-:0.3,-:NOT_FOUND,- 1 163315350 rs10753611 G C 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.5715,C/0.4285;PC=0.008;Gene=NUF2/NM_031423.3/1;CC=c.808-118G>C;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.808-118G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:28:27:0:0:15,12,1:475,382,13:46.59,0.00,0.29:47.09,0.00,0.31:-0.50,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:0.82,0.00,0.00:60,60,60:40.6,11.8,44.0:0,0,0:0,0,0:53,35,123:98,115,28:34,25,0:NM_145697.2(NUF2) c.808-118G>C,-:0.38,-:NOT_FOUND,- 1 163315609 . G . . NT END=163317552;NT GT ./. 1 163317427 rs2292271 T C 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4473,C/0.5527;Gene=NUF2/NM_031423.3/1;CC=c.949-126T>C;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.949-126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:13:13:0:0:9,4:313,106:32.14,0.00:32.14,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.4,45.0:0,0:0,0:52,65:99,85:42,29:NM_145697.2(NUF2) c.949-126T>C,-:0.52,-:NOT_FOUND,- 1 163317729 . G . . NT END=163318734;NT GT ./. 1 163318871 . G . . NT END=163325124;NT GT ./. 1 163324929 rs397981737 C CT 25 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1116,CT/0.8884;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1116,CT/0.8884;NP=1733;Gene=NUF2/NM_031423.3/1;CC=c.1261-191dupT;VC=Intron;Gene=NUF2/NM_145697.2/0;CC=c.1261-191dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:C,CT:8:8:7:0:1,7:25,231:0.00,25.13:0.00,25.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,0.7:1,0:0,0:84,50:67,101:0,22:-,NM_145697.2(NUF2) c.1261-196_1261-195insT:-,0.9:-,NOT_FOUND 1 163325260 . T . . NT END=164529059;NT GT ./. 1 163468652 rs2494202 A G 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.001398,G/0.9986;NP=12;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:5:0:0:8:229:26.66:16.03:10.63:1.00:1.00:1.00:60:67.2:0:0:42:106:23:chr1 g.163468651A>G (intergenic),chr1 g.163468651A>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 163468847 rs112225859 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.869,T/0.131;PC=0.097 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,T:9:6:0:0:5,4:123,120:0.00,11.23:0.00,8.55:0.00,2.68:0.00,0.85:0.00,0.96:0.00,0.96:60,60:87.6,112.5:0,0:0,0:91,63:60,61:42,14:-,chr1 g.163468846C>T (intergenic):-,0.12:-,NOT_FOUND 1 163468861 rs2494230 T C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.01358,C/0.9864;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:6:0:0:8:226:26.35:16.24:10.11:1.00:1.00:1.00:60:92.2:0:0:89:47:16:chr1 g.163468860T>C (intergenic),chr1 g.163468860T>C (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 1 163468913 rs149303050 C T 11 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8363,T/0.1637;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:2:0:0:1,3:35,104:0.00,10.85:0.00,1.27:0.00,9.58:0.00,0.85:0.00,0.95:0.00,0.99:60,60:98.0,57.0:0,0:0,0:105,46:46,102:0,21:-,chr1 g.163468912C>T (intergenic):-,0.19:-,NOT_FOUND 1 163469064 rs112064838 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.869,T/0.131;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,T:5:3:0:0:2,3:38,97:0.00,9.74:0.00,4.50:0.00,5.23:0.00,0.78:0.00,0.94:0.00,0.94:60,60:47.0,42.7:0,0:0,0:96,103:53,48:53,34:-,chr1 g.163469063C>T (intergenic):-,0.13:-,NOT_FOUND 1 163494686 rs372075103 A AGTGTGT 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6975,AGT/0.3025,AGTGTGT/.,AGTGTGTGT/.,AGTGTGTGTGT/.;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=12;NP=154;NP=2;NP=2;NP=3;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:AGTGTGT:2:4:4:0:2:104:6.85:8.44:-1.59:0.51:0.51:0.67:60:89.0:2:0:61:55:34:chr1 g.163494686_163494687insGTGTGT (intergenic),chr1 g.163494686_163494687insGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 164325807 rs12119061 A G 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.6963,G/0.3037;PC=0.169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:37:0:0:21,16:708,476:0.00,44.24:0.00,44.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.4,35.6:0,0:0,0:42,54:109,97:29,21:-,chr1 g.164325806A>G (intergenic):-,0.29:-,NOT_FOUND 1 164326453 rs10917988 G C 94 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7372,C/0.2628;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:59:30:0:0:1,29,29:11,974,930:-0.02,93.75,0.00:-0.08,40.93,0.00:0.06,52.82,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.0,37.3,11.9:0,0,0:0,0,0:9,76,84:142,75,67:0,39,31:chr1 g.164326452G>C (intergenic),-:0.28,-:NOT_FOUND,- 1 164326589 rs34663453 T G 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.8423,G/0.1577;PC=0.978 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:44:26:0:1:1,18,25:10,539,792:-0.05,49.78,0.00:0.09,19.94,0.00:-0.14,29.84,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.0,37.5,8.3:0,0,0:0,0,0:100,76,109:51,75,36:0,51,26:chr1 g.164326588T>G (intergenic),-:0.16,-:NOT_FOUND,- 1 164413454 rs57542461 TAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.0599,T/0.9401;DB;DBA=NA;PAF=TAC/0.0599,T/0.9401;NP=199;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TAC,T:4:4:0:2:2,2:68,66:0.00,6.35:0.00,4.71:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,60:25.5,0.0:0,0:0,0:116,45:33,105:4,27:-,chr1 g.164413455_164413456delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 164495611 rs6688059 T A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1246,A/0.8754 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:159:18.28:11.73:6.55:1.00:1.00:1.00:60:33.6:0:0:112:39:29:chr1 g.164495610T>A (intergenic),chr1 g.164495610T>A (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 164528870 rs12033962 T C 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.01897,C/0.981;PC=1.000;Gene=PBX1/NM_001204961.1/0;CC=c.-190T>C;VC=5UTR;Gene=PBX1/NM_001204963.1/0;CC=c.-190T>C;VC=5UTR;Gene=PBX1/NM_002585.3/1;CC=c.-190T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:359:41.15:41.15:0.00:1.00:1.00:0.00:60:59.5:0:0:73:78:14:NM_002585.3(PBX1) c.-190T>C,NM_002585.3(PBX1) c.-190T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 164529251 . G . . NT END=164532474;NT GT ./. 1 164529388 rs114718992 A G 44 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.988,G/0.01198;PC=0.066;Gene=PBX1/NM_001204961.1/0;CC=c.191+138A>G;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.191+138A>G;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.191+138A>G;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:0:0:0:10,14:307,444:0.00,43.97:0.00,0.00:0.00,43.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.3,40.8:0,0:0,0:117,109:32,41:21,23:-,NM_002585.3(PBX1) c.191+138A>G:-,0.01:-,NOT_FOUND 1 164531689 rs72180787 TACAC T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=67;PC=0.271;Gene=PBX1/NM_001204961.1/0;CC=c.192-747_192-744delACAC;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.192-747_192-744delACAC;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.192-747_192-744delACAC;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:TACAC,T:5:5:0:4:2,3:54,128:0.00,9.43:0.00,2.92:0.00,6.50:0.00,0.73:0.00,0.96:0.00,0.89:60,60:6.0,26.3:0,1:0,0:145,69:5,70:3,7:-,NM_002585.3(PBX1) c.192-785_192-782delACAC:-,NOT_FOUND:-,NOT_FOUND 1 164532549 . G . . NT END=164595165;NT GT ./. 1 164595046 . T TA 12 idl,rn VT=INS;SST=Single;DP=25;NP=3;PC=0.082;Gene=PBX1/NM_001204961.1/0;CC=c.265+62513_265+62514insA;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.265+62513_265+62514insA;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.265+62513_265+62514insA;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,T,TA,D:22:25:5:6:1,13,5,3:33,317,144,190:2.15,0.00,12.05,7.36:2.15,0.00,11.11,5.98:0.00,0.00,0.94,1.38:0.00,0.00,0.83,0.00:0.00,0.00,0.83,0.00:0.00,0.00,0.47,0.00:60,60,60,60:33.0,56.6,33.4,21.7:0,0,0,3:0,0,0,0:30,42,36,12:118,109,115,138:0,36,24,7:-,NM_002585.3(PBX1) c.265+62498_265+62499insA:-,NOT_FOUND:-,NOT_FOUND 1 164595334 . G . . NT END=164669703;NT GT ./. 1 164595489 rs2996669 C T 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3293,T/0.6707;PC=0.003;Gene=PBX1/NM_001204961.1/0;CC=c.265+62941C>T;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.265+62941C>T;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.265+62941C>T;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:10:0:0:0:2,8:68,264:0.00,28.04:0.00,0.00:0.00,28.04:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,37.5:0,0:0,0:110,106:40,44:15,14:-,NM_002585.3(PBX1) c.265+62941C>T:-,0.68:-,NOT_FOUND 1 164669949 . G . . NT END=164761730;NT GT ./. 1 164670007 rs1686182 G A 288 nt VT=SNV;PN=T;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.7063,A/0.2937;Gene=PBX1/NM_001204961.1/0;CC=c.266-91724G>A;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-91724G>A;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-91724G>A;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:80:26:0:0:79,1:2507,12:287.89,0.18:64.58,0.00:223.31,0.18:1.00,0.00:1.00,0.00:1.00,0.00:70,60:60.3,80.0:0,0:0,0:103,26:44,125:24,0:NM_002585.3(PBX1) c.266-91724G>A,NM_002585.3(PBX1) c.266-91724G>A:0.26,0.26:NOT_FOUND,NOT_FOUND 1 164670028 rs34028716 TC T 246 nt VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=TC/0.7063,T/0.2937;NP=312;Gene=PBX1/NM_001204961.1/0;CC=c.266-91702delC;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-91702delC;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-91702delC;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:TC,T:72:16:0:70:2,70:57,2163:0.00,245.71:0.00,34.59:0.00,211.12:0.00,1.00:0.00,1.00:0.00,1.00:60,70:55.5,64.5:1,0:0,0:140,109:9,42:7,28:NM_002585.3(PBX1) c.266-91702delC,NM_002585.3(PBX1) c.266-91702delC:0.26,0.26:NOT_FOUND,NOT_FOUND 1 164670055 rs2635013 C T 188 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.7061,T/0.2939;PC=0.001;Gene=PBX1/NM_001204961.1/0;CC=c.266-91676C>T;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-91676C>T;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-91676C>T;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:T:51:5:0:0:51:1641:188.37:8.58:179.79:1.00:1.00:1.00:70:83.4:0:0:103:47:36:NM_002585.3(PBX1) c.266-91676C>T,NM_002585.3(PBX1) c.266-91676C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 1 164670079 rs1780347 C T 139 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.7067,T/0.2933;Gene=PBX1/NM_001204961.1/0;CC=c.266-91652C>T;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-91652C>T;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-91652C>T;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:2:0:0:38:1210:139.08:3.63:135.46:1.00:1.00:1.00:70:85.0:0:0:86:64:32:NM_002585.3(PBX1) c.266-91652C>T,NM_002585.3(PBX1) c.266-91652C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 1 164676663 rs1686178 A T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;Gene=PBX1/NM_001204961.1/0;CC=c.266-85068A>T;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-85068A>T;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-85068A>T;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:5:3:0:0:1,4:34,113:0.00,12.08:0.00,2.88:0.00,9.20:0.00,0.96:0.00,0.99:0.00,1.00:60,70:134.0,71.2:0,2:0,0:38,59:79,92:0,24:-,NM_002585.3(PBX1) c.266-85068A>T:-,NOT_FOUND:-,NOT_FOUND 1 164685985 rs11287616 GA G 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GA/0.6593,G/0.3407;NP=285;PC=0.003;Gene=PBX1/NM_001204961.1/0;CC=c.266-75737delA;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-75737delA;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-75737delA;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:GA,G:5:1:0:3:2,3:48,88:0.00,8.78:0.00,2.45:0.00,6.32:0.00,0.78:0.00,0.73:0.00,0.97:60,60:20.0,11.0:0,0:0,0:62,106:73,15:26,29:-,NM_002585.3(PBX1) c.266-75745delA:-,NOT_FOUND:-,NOT_FOUND 1 164710976 rs57771496 A AGT 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=108;NP=12;NP=3;NP=6;Gene=PBX1/NM_001204961.1/0;CC=c.266-50719_266-50718insGT;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-50719_266-50718insGT;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-50719_266-50718insGT;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,AGT:5:4:4:0:2,3:48,128:0.00,9.73:0.00,4.72:0.00,5.01:0.00,0.73:0.00,0.51:0.00,0.51:60,60:0.0,8.7:0,1:0,0:91,52:37,98:13,8:-,NM_002585.3(PBX1) c.266-50755_266-50754insGT:-,NOT_FOUND:-,NOT_FOUND 1 164721443 rs10629820 T TTG 8 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.635,TTG/0.365;NP=102;PC=0.005;Gene=PBX1/NM_001204961.1/0;CC=c.266-40248_266-40247insTG;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-40248_266-40247insTG;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-40248_266-40247insTG;VC=Intron;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:T,TTG:5:5:3:0:2,3:65,76:0.00,7.56:0.00,7.96:0.00,-0.40:0.00,0.78:0.00,0.78:0.00,0.87:60,60:0.0,25.3:0,0:0,0:63,76:33,75:54,25:-,NM_002585.3(PBX1) c.266-40288_266-40287insTG:-,NOT_FOUND:-,NOT_FOUND 1 164742480 rs57786068 G A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3968,A/0.6032;Gene=PBX1/NM_001204961.1/0;CC=c.266-19251G>A;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.266-19251G>A;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.266-19251G>A;VC=Intron;Gene=LOC100505795/NR_038072.1/0;VC=NonCoding;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC;DM=PBX1/PBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:158:18.18:8.44:9.74:1.00:1.00:1.00:60:40.8:0:0:113:31:16:NM_002585.3(PBX1) c.266-19251G>A,NM_002585.3(PBX1) c.266-19251G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 164761976 . G . . NT END=164768935;NT GT ./. 1 164769127 . G . . NT END=164776778;NT GT ./. 1 164776915 . G . . NT END=164781226;NT GT ./. 1 164781015 rs10494422 A C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9549,C/0.04513;Gene=PBX1/NM_001204961.1/0;CC=c.838-212A>C;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.838-212A>C;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.838-212A>C;VC=Intron;DM=PBX1/Homeobox;DM=PBX1/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,C:9:9:0:0:5,4:165,137:0.00,12.92:0.00,12.92:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:4.8,38.5:0,0:0,0:31,91:119,59:20,34:-,NM_002585.3(PBX1) c.838-212A>C:-,0.06:-,NOT_FOUND 1 164781110 rs11280817 A AATATAAG 46 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.237,AATATAAG/0.763;NP=3;Gene=PBX1/NM_001204961.1/0;CC=c.838-117_838-116insATATAAG;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.838-117_838-116insATATAAG;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.838-117_838-116insATATAAG;VC=Intron;DM=PBX1/Homeobox;DM=PBX1/Homeobox;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A,AATATAAG:14:14:13:0:1,13:27,410:0.00,45.64:0.00,45.64:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:34.0,5.7:0,0:0,0:148,31:1,120:0,17:NM_002585.3(PBX1) c.838-117_838-116insATATAAG,NM_002585.3(PBX1) c.838-117_838-116insATATAAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 164781387 . G . . NT END=164789308;NT GT ./. 1 164789422 . G . . NT END=164790773;NT GT ./. 1 164789444 rs1538488 A G 132 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=3478;PC=0.681;Gene=PBX1/NM_001204961.1/0;CC=c.998-1330A>G;VC=Intron;Gene=PBX1/NM_001204963.1/0;CC=c.1110+23A>G;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.1110+23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:16:0:0:34:1156:131.81:37.87:93.95:1.00:1.00:1.00:60:40.0:0:0:111:37:28:NM_002585.3(PBX1) c.1110+23A>G,NM_002585.3(PBX1) c.1110+23A>G:1,1:0.999846,0.999846 1 164790864 . G . . NT END=164815820;NT GT ./. 1 164816726 rs6426881 C T 193 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.8952,T/0.1048;Gene=PBX1/NM_001204961.1/0;CC=c.*949C>T;VC=3UTR;Gene=PBX1/NM_001204963.1/0;CC=c.1201-1851C>T;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.*813C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:76:0:0:65,63:2109,2010:0.00,192.52:0.00,90.86:0.00,101.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,35.1:0,0:0,0:53,78:95,72:31,40:-,NM_002585.3(PBX1) c.*813C>T:-,0.1:-,NOT_FOUND 1 164816956 rs3185695 G A 116 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.6967,A/0.3033;Gene=PBX1/NM_001204961.1/0;CC=c.*1179G>A;VC=3UTR;Gene=PBX1/NM_001204963.1/0;CC=c.1201-1621G>A;VC=Intron;Gene=PBX1/NM_002585.3/1;CC=c.*1043G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:101:67:0:0:41,58,2:1260,1975,44:116.37,0.00,1.80:65.70,0.00,1.82:50.67,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.8,9.3,75.0:0,0,0:0,0,0:76,70,31:75,80,120:41,39,0:NM_002585.3(PBX1) c.*1043G>A,-:0.26,-:NOT_FOUND,- 1 164818640 . G . . NT END=165173116;NT GT ./. 1 164818907 rs1213289 C T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.05691,T/0.9431;Gene=PBX1/NM_001204961.1/0;CC=c.*3130C>T;VC=3UTR;Gene=PBX1/NM_001204963.1/0;CC=c.*268C>T;VC=3UTR;Gene=PBX1/NM_002585.3/1;CC=c.*2994C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:197:22.99:0.00:22.99:1.00:0.00:1.00:60:49.4:0:0:129:21:10:NM_002585.3(PBX1) c.*2994C>T,NM_002585.3(PBX1) c.*2994C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 165156772 rs1158950 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=230 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:141:16.01:8.05:7.95:1.00:1.00:1.00:60:48.5:0:0:111:39:23:chr1 g.165156771A>G (intergenic),chr1 g.165156771A>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 165173216 rs1354509 A G 281 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.001198,G/0.9988;NP=3482;PC=1.000;Gene=LMX1A/NM_001174069.1/1;CC=c.1050T>C;ProtCh=p.D350=;VC=Silent;Gene=LMX1A/NM_177398.3/0;CC=c.1050T>C;ProtCh=p.D350=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:42:0:0:76:2452:281.23:116.40:164.82:1.00:1.00:1.00:60:48.1:0:0:83:61:51:NM_177398.3(LMX1A) c.1050T>C (p.(=)),NM_177398.3(LMX1A) c.1050T>C (p.(=)):1,1:0.999154,0.999154 1 165173278 . C . . NT END=165175100;NT GT ./. 1 165175272 . C . . NT END=165177299;NT GT ./. 1 165175374 rs4656435 G A 81 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5485,A/0.4515;PC=0.105;Gene=LMX1A/NM_001174069.1/1;CC=c.818-103C>T;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.818-103C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:A,C:23:2:0:0:22,1:710,20:81.07,1.14:5.59,0.00:75.48,1.14:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,133.0:0,0:0,0:95,5:55,146:36,0:NM_177398.3(LMX1A) c.818-103C>T,NM_177398.3(LMX1A) c.818-103C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 165177170 rs17403138 T C 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8922,C/0.1078;Gene=LMX1A/NM_001174069.1/1;CC=c.817+130A>G;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.817+130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:6,11:204,325:18.48,0.00:18.48,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:38.8,20.8:0,0:0,0:26,51:124,100:4,39:NM_177398.3(LMX1A) c.817+130A>G,-:0.14,-:NOT_FOUND,- 1 165177370 . C . . NT END=165179935;NT GT ./. 1 165179697 rs1532814 A T 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.001198,T/0.9988;NP=483;Gene=LMX1A/NM_001174069.1/1;CC=c.747+239T>A;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.747+239T>A;VC=Intron;DM=LMX1A/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:277:31.98:31.98:0.00:1.00:1.00:0.00:60:43.1:0:0:47:104:19:NM_177398.3(LMX1A) c.747+239T>A,NM_177398.3(LMX1A) c.747+239T>A:1,1:NOT_FOUND,NOT_FOUND 1 165180014 . C . . NT END=165182877;NT GT ./. 1 165180089 rs1532815 T A 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.3315,A/0.6685;Gene=LMX1A/NM_001174069.1/1;CC=c.670-76A>T;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.670-76A>T;VC=Intron;DM=LMX1A/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:5:0:0:25:793:91.18:11.83:79.35:1.00:1.00:1.00:60:38.4:0:0:108:41:24:NM_177398.3(LMX1A) c.670-76A>T,NM_177398.3(LMX1A) c.670-76A>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 165183051 . C . . NT END=165218644;NT GT ./. 1 165218679 rs9970062 C T 79 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.7831,T/0.2169;PC=1.000;Gene=LMX1A/NM_001174069.1/1;CC=c.462G>A;ProtCh=p.L154=;VC=Silent;Gene=LMX1A/NM_177398.3/0;CC=c.462G>A;ProtCh=p.L154=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:59:0:0:45,29:1601,865:0.00,78.77:0.00,54.53:0.00,24.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,40.6:0,0:0,0:58,45:86,102:28,21:-,NM_177398.3(LMX1A) c.462G>A (p.(=)):-,0.24:-,0.297247 1 165218878 . C . . NT END=165322312;NT GT ./. 1 165245073 rs71661277 GGTGT G 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GGTGT/0.7909,G/0.2091;DB;DBA=NA;PAF=GGTGT/0.7909,G/0.2091;NP=123;PC=0.017;Gene=LMX1A/NM_001174069.1/1;CC=c.264-26200_264-26197delACAC;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.264-26200_264-26197delACAC;VC=Intron;DM=LMX1A/LIM;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:GGTGT,G:6:4:0:3:3,3:98,97:0.00,9.32:0.00,3.07:0.00,6.25:0.00,0.73:0.00,0.51:0.00,0.96:60,60:21.3,12.3:1,0:0,0:87,67:50,70:19,37:-,NM_177398.3(LMX1A) c.264-26200_264-26197delACAC:-,0.23:-,NOT_FOUND 1 165288238 rs6656679 A T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=318;Gene=LMX1A/NM_001174069.1/1;CC=c.263+34075T>A;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.263+34075T>A;VC=Intron;DM=LMX1A/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:130:14.91:5.82:9.09:1.00:1.00:1.00:60:103.2:0:0:99:51:0:NM_177398.3(LMX1A) c.263+34075T>A,NM_177398.3(LMX1A) c.263+34075T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 165288240 rs34449722 A T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7466,T/0.2534;NP=1;NP=227;Gene=LMX1A/NM_001174069.1/1;CC=c.263+34073T>A;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.263+34073T>A;VC=Intron;DM=LMX1A/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,T:5:3:0:0:1,4:32,120:0.00,12.82:0.00,5.37:0.00,7.44:0.00,0.96:0.00,0.99:0.00,1.00:60,60:68.0,89.8:0,0:0,0:1,101:142,49:0,18:-,NM_177398.3(LMX1A) c.263+34073T>A:-,NOT_FOUND:-,NOT_FOUND 1 165322500 . C . . NT END=165324720;NT GT ./. 1 165322654 rs145554599 G GA 30 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8311,GA/0.1689;NP=46;PC=0.003;Gene=LMX1A/NM_001174069.1/1;CC=c.77-156dupT;VC=Intron;Gene=LMX1A/NM_177398.3/0;CC=c.77-156dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GA:20:0:10:0:9,1,10:285,7,308:0.00,-0.01,29.85:0.00,0.00,0.00:0.00,-0.01,29.85:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:0.8,85.0,3.6:0,0,0:0,0,0:127,64,100:24,79,50:22,0,25:-,NM_177398.3(LMX1A) c.77-156_77-155insT:-,0.18:-,NOT_FOUND 1 165324797 . G . . NT END=165370499;NT GT ./. 1 165370648 . C . . NT END=165376048;NT GT ./. 1 165370757 rs283690 G A 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.3005,A/0.6995;PC=0.002;Gene=RXRG/NM_001256571.1/0;CC=c.876-110C>T;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.876-110C>T;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1245-110C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:15:0:0:29,12:886,383:91.56,0.00:19.82,0.00:71.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,9.4:0,0:0,0:105,115:46,34:30,21:NM_006917.4(RXRG) c.1245-110C>T,-:0.63,-:NOT_FOUND,- 1 165375835 rs283698 A G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.128,G/0.872;Gene=RXRG/NM_001256571.1/0;CC=c.875+214T>C;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.875+214T>C;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1244+214T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:227:26.04:26.04:0.00:1.00:1.00:0.00:60:102.6:0:0:14:137:13:NM_006917.4(RXRG) c.1244+214T>C,NM_006917.4(RXRG) c.1244+214T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 1 165375870 rs140794306 G A 40 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9978,A/0.002196;NP=11;Gene=RXRG/NM_001256571.1/0;CC=c.875+179C>T;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.875+179C>T;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1244+179C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:347:39.94:39.94:0.00:1.00:1.00:0.00:60:100.3:0:0:45:106:24:NM_006917.4(RXRG) c.1244+179C>T,NM_006917.4(RXRG) c.1244+179C>T:0.0032,0.0032:NOT_FOUND,NOT_FOUND 1 165375895 rs283697 A C 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.128,C/0.872;Gene=RXRG/NM_001256571.1/0;CC=c.875+154T>G;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.875+154T>G;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1244+154T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:382:44.35:44.35:0.00:1.00:1.00:0.00:60:85.8:0:0:46:103:24:NM_006917.4(RXRG) c.1244+154T>G,NM_006917.4(RXRG) c.1244+154T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 165376043 rs283696 T C 225 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.128,C/0.872;Gene=RXRG/NM_001256571.1/0;CC=c.875+6A>G;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.875+6A>G;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1244+6A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C:58:53:0:0:58:1977:225.33:152.51:72.82:1.00:1.00:1.00:60:38.6:0:0:61:83:33:NM_006917.4(RXRG) c.1244+6A>G,NM_006917.4(RXRG) c.1244+6A>G:0.86,0.86:0.813394,0.813394 1 165376155 . C . . NT END=165377463;NT GT ./. 1 165376229 rs10800095 C G 110 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2206,G/0.7794;NP=1002;Gene=RXRG/NM_001256571.1/0;CC=c.770-75G>C;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.770-75G>C;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1139-75G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:6:0:0:29:961:109.89:13.97:95.92:1.00:1.00:1.00:60:73.9:0:0:119:30:18:NM_006917.4(RXRG) c.1139-75G>C,NM_006917.4(RXRG) c.1139-75G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 165376233 rs10800096 G C 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=RXRG/NM_001256571.1/0;CC=c.770-79C>G;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.770-79C>G;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1139-79C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:4:0:0:28:930:106.32:9.99:96.33:1.00:1.00:1.00:60:75.5:0:0:115:35:23:NM_006917.4(RXRG) c.1139-79C>G,NM_006917.4(RXRG) c.1139-79C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 165377389 rs283692 T C 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.003794,C/0.9962;NP=3486;Gene=RXRG/NM_001256571.1/0;CC=c.769+75A>G;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.769+75A>G;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1138+75A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:14:0:0:15:503:57.45:50.85:6.60:1.00:1.00:1.00:60:48.2:0:0:54:97:37:NM_006917.4(RXRG) c.1138+75A>G,NM_006917.4(RXRG) c.1138+75A>G:1,1:NOT_FOUND,NOT_FOUND 1 165377552 rs2134095 G A 118 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.5212,A/0.4788,C/.;PC=0.089;Gene=RXRG/NM_001256571.1/0;CC=c.681C>T;ProtCh=p.V227=;VC=Silent;Gene=RXRG/NM_001256570.1/0;CC=c.681C>T;ProtCh=p.V227=;VC=Silent;Gene=RXRG/NM_006917.4/1;CC=c.1050C>T;ProtCh=p.V350=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A:33:24:0:0:33:1024:118.03:60.17:57.85:1.00:1.00:1.00:60:37.0:0:0:100:46:19:NM_006917.4(RXRG) c.1050C>T (p.(=)),NM_006917.4(RXRG) c.1050C>T (p.(=)):0.53,0.53:0.554436,0.554436 1 165377556 . C . . NT END=165378794;NT GT ./. 1 165378729 rs66800417 TACAC T 164 idl,rn VT=DEL;SST=Single;DP=69;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=262;Gene=RXRG/NM_001256571.1/0;CC=c.677+62_677+65delGTGT;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.677+62_677+65delGTGT;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.1046+62_1046+65delGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:TACAC,T:59:64:0:60:10,49:249,1842:0.00,163.51:0.00,140.18:0.00,23.33:0.00,1.00:0.00,1.00:0.00,1.00:60,70:4.6,12.9:0,10:0,0:140,45:10,103:4,20:-,NM_006917.4(RXRG) c.1046+62_1046+65delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 165378928 . C . . NT END=165379938;NT GT ./. 1 165379186 rs397799401 C CT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5421,CT/0.4579;DB;DBA=NA;PAF=C/0.5421,CT/0.4579;NP=18;Gene=RXRG/NM_001256571.1/0;CC=c.545-260dupA;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.545-260dupA;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.914-260dupA;VC=Intron;DM=RXRG/zf-C4;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,CT:7:0:4:0:3,4:102,123:0.00,12.13:0.00,0.00:0.00,12.13:0.00,0.99:0.00,0.00:0.00,0.99:60,60:15.7,9.2:0,0:0,0:141,50:10,100:4,20:-,NM_006917.4(RXRG) c.914-260_914-259insA:-,NOT_FOUND:-,NOT_FOUND 1 165380069 . C . . NT END=165380185;NT GT ./. 1 165380347 . C . . NT END=165386277;NT GT ./. 1 165380623 rs10489744 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.52,A/0.48;Gene=RXRG/NM_001256571.1/0;CC=c.254-277C>T;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.254-277C>T;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.623-277C>T;VC=Intron;DM=RXRG/Nuc_recep-AF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:39.0:0:0:98:53:45:NM_006917.4(RXRG) c.623-277C>T,NM_006917.4(RXRG) c.623-277C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 165386158 rs2281985 T C 120 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.608,C/0.392;PC=0.022;Gene=RXRG/NM_001256571.1/0;CC=c.253+120A>G;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.253+120A>G;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.622+120A>G;VC=Intron;DM=RXRG/Nuc_recep-AF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:33:0:0:33:1048:120.47:120.47:0.00:1.00:1.00:0.00:60:38.6:0:0:48:103:23:NM_006917.4(RXRG) c.622+120A>G,NM_006917.4(RXRG) c.622+120A>G:0.4,0.4:NOT_FOUND,NOT_FOUND 1 165386458 . C . . NT END=165389106;NT GT ./. 1 165386567 rs2281986 C T 61 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6084,T/0.3916;Gene=RXRG/NM_001256571.1/0;CC=c.74-110G>A;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.74-110G>A;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.443-110G>A;VC=Intron;DM=RXRG/Nuc_recep-AF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:529:60.91:0.00:60.91:1.00:0.00:1.00:60:50.8:0:0:72:78:28:NM_006917.4(RXRG) c.443-110G>A,NM_006917.4(RXRG) c.443-110G>A:0.4,0.4:NOT_FOUND,NOT_FOUND 1 165386650 rs190800 G T 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.0009984,T/0.999;NP=1530;Gene=RXRG/NM_001256571.1/0;CC=c.74-193C>A;VC=Intron;Gene=RXRG/NM_001256570.1/0;CC=c.74-193C>A;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.443-193C>A;VC=Intron;DM=RXRG/Nuc_recep-AF1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:293:33.59:0.00:33.59:1.00:0.00:1.00:60:62.6:0:0:131:20:9:NM_006917.4(RXRG) c.443-193C>A,NM_006917.4(RXRG) c.443-193C>A:1,1:NOT_FOUND,NOT_FOUND 1 165389129 rs1128977 G A 175 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.7726,A/0.2274;PC=1.000;Gene=RXRG/NM_001256571.1/0;CC=c.51C>T;ProtCh=p.A17=;VC=Silent;Gene=RXRG/NM_001256570.1/0;CC=c.51C>T;ProtCh=p.A17=;VC=Silent;Gene=RXRG/NM_006917.4/1;CC=c.420C>T;ProtCh=p.A140=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:33:0:0:46:1531:175.03:90.93:84.10:1.00:1.00:1.00:60:42.8:0:0:44:99:25:NM_006917.4(RXRG) c.420C>T (p.(=)),NM_006917.4(RXRG) c.420C>T (p.(=)):0.24,0.24:0.296863,0.296863 1 165389252 . C . . NT END=165393987;NT GT ./. 1 165394222 . G . . NT END=165397955;NT GT ./. 1 165398204 . C . . NT END=165406164;NT GT ./. 1 165403508 rs56368263 CAT C 11 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=84;Gene=RXRG/NM_001256570.1/0;CC=c.-378-5307_-378-5306delAT;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.50-5307_50-5306delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:CAT,C:8:9:0:5:4,4:141,143:0.00,10.98:0.00,5.23:0.00,5.74:0.00,0.85:0.00,0.85:0.00,0.96:60,60:92.0,56.2:0,1:0,0:82,23:65,117:33,5:-,NM_006917.4(RXRG) c.50-5307_50-5306delAT:-,NOT_FOUND:-,NOT_FOUND 1 165403509 rs157884 A G 12 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4844,G/0.5156;NP=58;Gene=RXRG/NM_001256570.1/0;CC=c.-378-5306T>C;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.50-5306T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:5:4:107:12.48:8.56:3.93:1.00:1.00:1.00:60:93.2:0:0:50:99:12:NM_006917.4(RXRG) c.50-5306T>C,NM_006917.4(RXRG) c.50-5306T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 165403517 rs78370386 A G 38 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9675,AAT/.,ATGTG/0.03255;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=2;NP=58;Gene=RXRG/NM_001256570.1/0;CC=c.-378-5314T>C;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.50-5314T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:9:0:0:10:328:37.52:21.52:16.01:1.00:1.00:1.00:60:63.8:5:0:29:94:11:NM_006917.4(RXRG) c.50-5314T>C,NM_006917.4(RXRG) c.50-5314T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 165406087 rs455696 G A 132 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.2632,A/0.7368;Gene=RXRG/NM_001256570.1/0;CC=c.-378-7884C>T;VC=Intron;Gene=RXRG/NM_006917.4/1;CC=c.50-7884C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:36:0:0:36:1151:132.23:116.10:16.13:1.00:1.00:1.00:60:42.0:0:0:50:96:33:NM_006917.4(RXRG) c.50-7884C>T,NM_006917.4(RXRG) c.50-7884C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 1 165406439 . C . . NT END=165414081;NT GT ./. 1 165414131 . G . . NT END=165513533;NT GT ./. 1 165513439 rs285446 A C 145 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.07468,C/0.9253;PC=0.484;Gene=LOC400794/NR_026744.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:33:0:0:40:1258:144.83:107.44:37.39:1.00:1.00:1.00:60:101.9:0:0:69:72:30:NR_026744.1(LOC400794) n.909-21115T>G,NR_026744.1(LOC400794) n.909-21115T>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 165513456 rs285445 A C,T 120 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.08047,C/.,T/0.9195;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:45:C,G,T:51:42:0:0:9,1,41:129,5,1051:10.53,0.05,120.45:10.53,0.05,77.19:0.00,0.00,43.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:127.0,64.0,92.0:0,0,0:0,0,0:66,92,49:73,15,101:29,0,40:NR_026744.1(LOC400794) n.909-21132T>G,NR_026744.1(LOC400794) n.909-21132T>A:NOT_FOUND,0.94:NOT_FOUND,NOT_FOUND 1 165513463 rs285444 C G 126 nt VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1158,A/.,G/0.8842;PC=0.006;Gene=LOC400794/NR_026744.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,G,I:57:45:1:0:12,44,1:210,1184,25:0.00,126.04,1.16:0.00,64.33,-0.09:0.00,61.71,1.26:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:120.8,78.2,0.0:0,0,0:0,0,0:98,18,6:41,122,145:17,15,0:-,NR_026744.1(LOC400794) n.909-21139G>C:-,0.92:-,NOT_FOUND 1 165514156 . G . . NT END=165532741;NT GT ./. 1 165532586 rs12059369 C T 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9587,T/0.04133;Gene=LOC400794/NR_026744.1/0;VC=NonCoding;Gene=LRRC52/NM_001005214.3/1;CC=c.623-156C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:11,10:355,298:0.00,28.23:0.00,28.23:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:18.3,32.6:0,0:0,0:46,47:105,103:30,22:-,NM_001005214.3(LRRC52) c.623-156C>T:-,0.04:-,NOT_FOUND 1 165533005 rs453717 C A 179 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=C/0.6805,A/0.3195,T/.;Gene=LOC400794/NR_026744.1/0;VC=NonCoding;Gene=LRRC52/NM_001005214.3/1;CC=c.886C>A;ProtCh=p.R296=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:138:82:0:0:57,81:1921,2459:178.72,0.00:56.88,0.00:121.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,7.2:0,0:0,0:91,91:57,53:27,34:NM_001005214.3(LRRC52) c.886C>A (p.(=)),-:0.29,-:0.305321,- 1 165533062 . T . . NT END=165601476;NT GT ./. 1 165533188 rs367199 A C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6805,C/0.3195;PC=0.003;Gene=LOC400794/NR_026744.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:27:0:0:0:17,10:534,278:0.00,24.81:0.00,0.00:0.00,24.81:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.4,38.5:0,0:0,0:88,115:63,34:40,27:-,NR_026744.1(LOC400794) n.908+10067T>G:-,0.29:-,NOT_FOUND 1 165601215 rs4147595 G C 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.263,C/0.737;PC=0.001;Gene=MGST3/NM_004528.3/1;CC=c.-8+685G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,G:5:5:0:0:4,1:131,35:13.92,0.00:13.92,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:52.5,0.0:0,0:0,0:30,31:120,120:24,0:NM_004528.3(MGST3) c.-8+685G>C,-:0.76,-:NOT_FOUND,- 1 165601365 rs4147596 T C 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.5523,C/0.4477;PC=0.007;Gene=MGST3/NM_004528.3/1;CC=c.-8+835T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:30:0:0:20,11:677,361:68.48,0.00:61.66,0.00:6.82,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:52.9,7.6:0,0:0,0:51,34:99,117:41,30:NM_004528.3(MGST3) c.-8+835T>C,-:0.49,-:NOT_FOUND,- 1 165601466 rs9333378 G A 128 nt VT=SNV;PN=T;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.3484,A/0.6516,T/.;Gene=MGST3/NM_004528.3/1;CC=c.-8+936G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:63:0:0:40,37:1325,1263:128.42,0.00:71.60,0.00:56.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,2.9:0,0:0,0:64,57:82,84:27,33:NM_004528.3(MGST3) c.-8+936G>A,-:0.65,-:0.536275,- 1 165601512 . G . . NT END=165619077;NT GT ./. 1 165618717 rs9333464 A G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8998,G/0.1002;Gene=MGST3/NM_004528.3/1;CC=c.-7-361A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:5:4:0:0:2,3:65,105:0.00,10.47:0.00,6.71:0.00,3.75:0.00,0.78:0.00,0.97:0.00,0.73:60,60:0.0,63.7:0,0:0,0:19,37:131,114:2,10:-,NM_004528.3(MGST3) c.-7-361A>G:-,0.11:-,NOT_FOUND 1 165619202 . G . . NT END=165620250;NT GT ./. 1 165619424 rs9333468 G T 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.07788,T/0.9221;Gene=MGST3/NM_004528.3/1;CC=c.117+223G>T;VC=Intron;DM=MGST3/MAPEG;DM=MGST3/MAPEG;DM=MGST3/MAPEG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:258:30.05:0.00:30.05:1.00:0.00:1.00:60:40.8:0:0:95:56:30:NM_004528.3(MGST3) c.117+223G>T,NM_004528.3(MGST3) c.117+223G>T:0.91,0.91:NOT_FOUND,NOT_FOUND 1 165620325 . G . . NT END=165621214;NT GT ./. 1 165621129 rs58194137 C CAAAAAAA 34 idl,nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=7;PC=0.003;Gene=MGST3/NM_004528.3/1;CC=c.192-67_192-66insAAAAAAA;VC=Intron;DM=MGST3/MAPEG;DM=MGST3/MAPEG;DM=MGST3/MAPEG;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,CAAAAAAA:13:17:14:0:3,10:105,459:0.00,34.41:0.00,34.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,43.5:0,4:0,0:120,45:20,103:3,31:-,NM_004528.3(MGST3) c.192-86_192-85insAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 165621273 . G . . NT END=165623515;NT GT ./. 1 165623589 . G . . NT END=165624604;NT GT ./. 1 165624752 . G . . NT END=165632286;NT GT ./. 1 165632382 . C . . NT END=165634254;NT GT ./. 1 165634368 . C . . NT END=165636545;NT GT ./. 1 165636688 . C . . NT END=165638162;NT GT ./. 1 165638251 . C . . NT END=165638498;NT GT ./. 1 165638688 . C . . NT END=165648678;NT GT ./. 1 165648709 rs1143661 C T 90 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.9207,T/0.07927;Gene=ALDH9A1/NM_000696.3/1;CC=c.900G>A;ProtCh=p.A300=;VC=Silent;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:34:0:0:23,29:713,917:0.00,90.01:0.00,43.28:0.00,46.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,33.8:0,0:0,0:104,58:46,93:19,14:-,NM_000696.3(ALDH9A1) c.900G>A (p.(=)):-,0.08:-,0.096263 1 165648820 . C . . NT END=165649723;NT GT ./. 1 165649921 . C . . NT END=165651343;NT GT ./. 1 165651153 rs2882006 T A 62 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.254,A/0.746;Gene=ALDH9A1/NM_000696.3/1;CC=c.592+191A>T;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:18:0:0:18:531:61.57:61.57:0.00:1.00:1.00:0.00:60:38.1:0:0:61:86:35:NM_000696.3(ALDH9A1) c.592+191A>T,NM_000696.3(ALDH9A1) c.592+191A>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 165651479 . C . . NT END=165652217;NT GT ./. 1 165651502 rs1913844 G C 179 nt VT=SNV;PN=G;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.254,C/0.746;Gene=ALDH9A1/NM_000696.3/1;CC=c.458-24C>G;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:C:47:18:0:0:47:1564:178.69:45.38:133.31:1.00:1.00:1.00:60:42.6:0:0:86:62:24:NM_000696.3(ALDH9A1) c.458-24C>G,NM_000696.3(ALDH9A1) c.458-24C>G:0.74,0.74:0.650085,0.650085 1 165651720 rs1337443 T A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.254,A/0.746;Gene=ALDH9A1/NM_000696.3/1;CC=c.458-242A>T;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:140:16.38:0.00:16.38:1.00:0.00:1.00:60:80.2:0:0:128:23:21:NM_000696.3(ALDH9A1) c.458-242A>T,NM_000696.3(ALDH9A1) c.458-242A>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 165651725 rs1337442 C T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2536,T/0.7464;Gene=ALDH9A1/NM_000696.3/1;CC=c.458-247G>A;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:74.2:0:0:114:36:20:NM_000696.3(ALDH9A1) c.458-247G>A,NM_000696.3(ALDH9A1) c.458-247G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 165651937 rs7555787 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.254,G/0.746;Gene=ALDH9A1/NM_000696.3/1;CC=c.457+281T>C;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:179:20.74:20.74:0.00:1.00:1.00:0.00:60:45.7:0:0:51:100:41:NM_000696.3(ALDH9A1) c.457+281T>C,NM_000696.3(ALDH9A1) c.457+281T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 165652273 rs1143659 A G 314 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.2538,G/0.7462;Gene=ALDH9A1/NM_000696.3/1;CC=c.402T>C;ProtCh=p.I134=;VC=Silent;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:52:0:0:86:2728:313.69:142.99:170.70:1.00:1.00:1.00:60:40.0:0:0:75:67:33:NM_000696.3(ALDH9A1) c.402T>C (p.(=)),NM_000696.3(ALDH9A1) c.402T>C (p.(=)):0.74,0.74:0.650161,0.650161 1 165652348 . C . . NT END=165664488;NT GT ./. 1 165652445 rs4233407 A G 123 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.254,G/0.746;PC=0.829;Gene=ALDH9A1/NM_000696.3/1;CC=c.328-98T>C;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:75:G,T:34:4:0:0:33,1:1081,16:123.36,0.64:9.36,0.00:114.00,0.64:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,148.0:0,0:0,0:118,109:32,32:24,0:NM_000696.3(ALDH9A1) c.328-98T>C,NM_000696.3(ALDH9A1) c.328-98T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 165652540 rs398089625 GTTAA G 26 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GTTAA/0.3005,G/0.6995;DB;DBA=NA;PAF=GTTAA/0.3005,G/0.6995;DB;DBA=NA;PAF=NA;NP=512;Gene=ALDH9A1/NM_000696.3/1;CC=c.328-197_328-194delTTAA;VC=Intron;DM=ALDH9A1/Aldedh;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:GTTAA,G:12:0:0:8:4,8:123,255:0.00,26.00:0.00,0.00:0.00,26.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:39.0,65.2:0,0:0,0:144,73:4,77:0,37:-,NM_000696.3(ALDH9A1) c.328-197_328-194delTTAA:-,0.71:-,NOT_FOUND 1 165652568 rs4656457 A G 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2538,G/0.7462;PC=0.011;Gene=ALDH9A1/NM_000696.3/1;CC=c.328-221T>C;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:242:27.54:0.00:27.54:1.00:0.00:1.00:60:69.7:0:0:92:59:30:NM_000696.3(ALDH9A1) c.328-221T>C,NM_000696.3(ALDH9A1) c.328-221T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 165652612 rs3738192 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3005,A/0.6995;PC=0.075;Gene=ALDH9A1/NM_000696.3/1;CC=c.328-265C>T;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:171:19.48:0.00:19.48:1.00:0.00:1.00:60:70.6:0:0:106:44:11:NM_000696.3(ALDH9A1) c.328-265C>T,NM_000696.3(ALDH9A1) c.328-265C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 165664315 rs138453198 G A 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9944,A/0.005591;Gene=ALDH9A1/NM_000696.3/1;CC=c.327+174C>T;VC=Intron;DM=ALDH9A1/Aldedh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:16:16:0:0:11,5:332,173:34.09,0.00:34.09,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.6,2.0:0,0:0,0:68,54:83,96:25,34:NM_000696.3(ALDH9A1) c.327+174C>T,-:0.01,-:NOT_FOUND,- 1 165664635 . C . . NT END=165667486;NT GT ./. 1 165664724 rs397862619 CT C 22 idl,rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ALDH9A1/NM_000696.3/1;CC=c.182-91delA;VC=Intron;DM=ALDH9A1/Aldedh;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:28:8:1:16:18,1,9:588,26,438:0.00,1.32,22.19:0.00,-0.05,1.12:0.00,1.37,21.08:0.00,0.00,0.99:0.00,0.00,0.88:0.00,0.00,1.00:60,60,60:23.6,22.0,46.9:0,0,6:0,0,0:128,21,85:18,129,50:18,0,21:-,NM_000696.3(ALDH9A1) c.182-91delA:-,NOT_FOUND:-,NOT_FOUND 1 165667781 rs12408101 T G 155 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.8814,G/0.1186;Gene=ALDH9A1/NM_000696.3/1;CC=c.15A>C;ProtCh=p.A5=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:105:42:0:0:52,53:1622,1711:155.31,0.00:34.45,0.00:120.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.0,9.3:0,0:0,0:69,92:80,59:24,37:NM_000696.3(ALDH9A1) c.15A>C (p.(=)),-:0.15,-:0.191905,- 1 165667796 . G . . NT END=165697259;NT GT ./. 1 165667980 rs4646881 C T 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8165,T/0.1835 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:8:1:0:0:2,6:68,154:0.00,16.25:0.00,-0.60:0.00,16.85:0.00,1.00:0.00,0.83:0.00,1.00:60,60:33.0,38.3:0,0:0,0:30,132:120,14:13,11:-,NM_000696.3(ALDH9A1) c.-105-u80G>A:-,0.17:-,NOT_FOUND 1 165697359 . C . . NT END=165712403;NT GT ./. 1 165712549 . C . . NT END=165721338;NT GT ./. 1 165712555 . GA G 28 idl,rn VT=DEL;SST=Single;DP=51;NP=18;PC=0.066;Gene=TMCO1/NM_001256164.1/0;CC=c.375-8delT;VC=Intron;Gene=TMCO1/NM_001256165.1/0;CC=c.288-8delT;VC=Intron;Gene=TMCO1/NM_019026.4/1;CC=c.477-8delT;VC=Intron;Gene=TMCO1/NR_045818.1/0;VC=NonCoding;DM=TMCO1/DUF106;DM=TMCO1/DUF106;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,GA,I,G:50:22:6:11:4,31,5,10:62,971,197,331:2.96,0.00,12.36,27.87:-0.46,0.00,5.11,6.59:3.42,0.00,7.25,21.28:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.97:0.00,0.00,0.00,1.00:60,60,60,60:48.8,20.2,12.8,13.9:1,0,1,0:0,0,0,0:70,101,94,89:65,46,56,61:46,28,30,29:-,NM_019026.4(TMCO1) c.477-8delT:-,NOT_FOUND:-,NOT_FOUND 1 165721223 rs7512095 T C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4838,C/0.5162;PC=0.001;Gene=TMCO1/NM_001256164.1/0;CC=c.374+116A>G;VC=Intron;Gene=TMCO1/NM_001256165.1/0;CC=c.287+116A>G;VC=Intron;Gene=TMCO1/NM_019026.4/1;CC=c.476+116A>G;VC=Intron;Gene=TMCO1/NR_045818.1/0;VC=NonCoding;DM=TMCO1/DUF106;DM=TMCO1/DUF106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:15:15:0:0:9,6:277,198:27.60,0.00:27.60,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.2,6.2:0,0:0,0:25,39:125,112:22,7:NM_019026.4(TMCO1) c.476+116A>G,-:0.47,-:NOT_FOUND,- 1 165721407 . C . . NT END=165723464;NT GT ./. 1 165721489 . AT A 15 idl,rn VT=DEL;SST=Single;DP=37;PC=0.706;Gene=TMCO1/NM_001256164.1/0;CC=c.307-84delA;VC=Intron;Gene=TMCO1/NM_001256165.1/0;CC=c.220-84delA;VC=Intron;Gene=TMCO1/NM_019026.4/1;CC=c.409-84delA;VC=Intron;Gene=TMCO1/NR_045818.1/0;VC=NonCoding;DM=TMCO1/DUF106;DM=TMCO1/DUF106;DM=TMCO1/DUF106;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:AT,C,I,A:34:7:2:8:26,1,1,6:754,13,57,244:0.00,0.09,1.51,14.63:0.00,-0.05,-0.05,-0.31:0.00,0.14,1.55,14.94:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.67:0.00,0.00,0.00,0.99:60,60,60,60:8.0,13.0,104.0,43.7:0,0,1,2:0,0,0,0:130,3,105,81:14,145,46,69:16,0,15,26:-,NM_019026.4(TMCO1) c.409-84delA:-,NOT_FOUND:-,NOT_FOUND 1 165723512 . C . . NT END=165728761;NT GT ./. 1 165728822 . C . . NT END=165737428;NT GT ./. 1 165737507 . C . . NT END=165737718;NT GT ./. 1 165737704 rs2790053 C G 120 nt VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.07847,G/0.9215,T/.;Gene=TMCO1/NM_001256164.1/0;CC=c.147-223G>C;VC=Intron;Gene=TMCO1/NM_001256165.1/0;CC=c.34+15G>C;VC=Intron;Gene=TMCO1/NM_019026.4/1;CC=c.224-198G>C;VC=Intron;Gene=TMCO1/NR_045818.1/0;VC=NonCoding;DM=TMCO1/DUF106;DM=TMCO1/DUF106;DM=TMCO1/DUF106;DM=TMCO1/DUF106;DM=TMCO1/DUF106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:80:68:0:0:38,41,1:1203,1247,22:0.00,120.32,0.62:0.00,80.24,0.68:0.00,40.08,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.3,44.5,34.0:0,0,0:0,0,0:67,54,144:80,97,7:34,29,0:-,NM_019026.4(TMCO1) c.224-198G>C:-,0.9:-,NOT_FOUND 1 165738142 . A . . NT END=165797070;NT GT ./. 1 165738311 rs2251768 A T 50 nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.09425,T/0.9058;Gene=LOC100147773/NR_125374.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:31:0:0:0:14,17:399,508:0.00,49.59:0.00,0.00:0.00,49.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:25.1,52.2:0,0:0,0:55,96:95,55:39,32:-,NM_019026.4(TMCO1) c.-18-u152T>A:-,0.89:-,NOT_FOUND 1 165797170 . G . . NT END=165859440;NT GT ./. 1 165859601 . G . . NT END=165860462;NT GT ./. 1 165859630 rs477033 C G 207 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=UCK2/NM_012474.4/1;CC=c.259+30C>G;VC=Intron;DM=UCK2/PRK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:G:59:28:0:0:59:1792:207.10:73.53:133.57:1.00:1.00:1.00:60:53.6:0:0:117:33:22:NM_012474.4(UCK2) c.259+30C>G,NM_012474.4(UCK2) c.259+30C>G:1,1:NOT_FOUND,NOT_FOUND 1 165860560 . G . . NT END=165864723;NT GT ./. 1 165864687 rs10918304 T A 86 nt VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.6212,A/0.3788;Gene=UCK2/NM_012474.4/1;CC=c.357-740T>A;VC=Intron;DM=UCK2/PRK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:66:59:0:0:28,38:917,1239:85.52,0.00:61.28,0.00:24.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,2.6:0,0:0,0:67,50:82,89:36,23:NM_012474.4(UCK2) c.357-740T>A,-:0.4,-:NOT_FOUND,- 1 165864879 . G . . NT END=165865426;NT GT ./. 1 165865570 . G . . NT END=165872418;NT GT ./. 1 165865694 rs2241965 G A 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6591,A/0.3409;PC=0.002;Gene=UCK2/NM_012474.4/1;CC=c.499+125G>A;VC=Intron;DM=UCK2/PRK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:4:0:0:12,13:397,412:37.94,0.00:5.15,0.00:32.79,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:33.9,10.5:0,0:0,0:99,100:51,51:35,34:NM_012474.4(UCK2) c.499+125G>A,-:0.36,-:NOT_FOUND,- 1 165872517 . G . . NT END=165875157;NT GT ./. 1 165874875 rs546390 G A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=480;PC=0.001;Gene=UCK2/NM_012474.4/1;CC=c.598-283G>A;VC=Intron;DM=UCK2/PRK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:119:13.80:13.80:0.00:1.00:1.00:0.00:60:50.0:0:0:40:109:10:NM_012474.4(UCK2) c.598-283G>A,NM_012474.4(UCK2) c.598-283G>A:1,1:NOT_FOUND,NOT_FOUND 1 165875207 . G . . NT END=165876920;NT GT ./. 1 165876705 rs495529 A G 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.61,G/0.39;Gene=UCK2/NM_012474.4/1;CC=c.647-216A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:12:12:0:0:4,8:105,274:0.00,27.97:0.00,27.97:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:18.0,41.0:0,0:0,0:54,77:96,73:19,33:-,NM_012474.4(UCK2) c.647-216A>G:-,0.4:-,NOT_FOUND 1 165877061 . C . . NT END=166029845;NT GT ./. 1 166027736 rs59628871 T TTGTG 10 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;NP=21;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:T,TTGTG:6:6:4:0:3,3:75,130:0.00,9.81:0.00,4.90:0.00,4.91:0.00,0.69:0.00,0.95:0.00,0.93:60,60:25.0,7.0:0,1:0,0:76,44:73,71:1,17:-,chr1 g.166027736_166027737insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 166029901 . C . . NT END=166039255;NT GT ./. 1 166029970 rs4353067 T C 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.273,C/0.727;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:4:0:0:16,9:530,275:53.52,0.00:3.29,0.00:50.23,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:40.6,12.9:0,0:0,0:86,129:64,22:37,15:chr1 g.166029969T>C (intergenic),-:0.74,-:NOT_FOUND,- 1 166030079 rs397791002 A AAG 21 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.01338,AAG/0.9866;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.01338,AAG/0.9866;NP=760;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:AAG:6:0:6:0:6:179:20.74:0.00:20.74:1.00:0.00:1.00:60:29.2:0:0:100:50:18:chr1 g.166030079_166030080insAG (intergenic),chr1 g.166030079_166030080insAG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 166040001 . C . . NT END=166135222;NT GT ./. 1 166040282 rs10918336 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8227,T/0.1773;Gene=FAM78B/NM_001017961.3/1;CC=c.264-282G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:6:0:0:0:2,4:65,107:0.00,10.89:0.00,0.00:0.00,10.89:0.00,0.93:0.00,0.00:0.00,0.93:60,60:22.0,41.0:0,0:0,0:90,127:59,23:8,9:-,NM_001017961.3(FAM78B) c.264-282G>A:-,0.19:-,NOT_FOUND 1 166063272 rs564389621 G C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;Gene=FAM78B/NM_001017961.3/1;CC=c.264-23272C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:C,G:7:3:0:0:6,1:208,34:22.42,0.00:5.71,0.00:16.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.0,45.0:0,0:0,0:99,145:51,6:15,0:NM_001017961.3(FAM78B) c.264-23272C>G,-:0.46,-:NOT_FOUND,- 1 166135486 . C . . NT END=166810193;NT GT ./. 1 166244681 rs374826446 G T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7564,T/0.2436;DB;DBA=NA;PAF=NA;NP=8;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,T:5:5:0:1:2,3:67,86:0.00,8.57:0.00,8.57:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,139.0:0,0:0,0:15,126:136,25:15,16:-,chr1 g.166244680G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 166244685 rs75488459 G T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6707,T/0.3293;NP=38;PC=0.560 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:G,T:6:6:0:0:3,3:83,99:0.00,9.53:0.00,9.53:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:64.7,85.0:0,1:0,0:34,63:117,88:30,52:-,chr1 g.166244684G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 166244927 rs1901357 T C 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.6721,C/0.3279;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:36:0:0:18,23:571,689:53.46,0.00:34.63,0.00:18.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.1,17.9:0,0:0,0:40,81:110,70:33,34:chr1 g.166244926T>C (intergenic),-:0.3,-:NOT_FOUND,- 1 166244970 rs540473720 C CA 65 nt VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.6719,CA/0.3281;DB;DBA=NA;PAF=NA;NP=919;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:58:43:23:0:2,33,23:71,1037,704:4.63,0.00,64.92:2.27,0.00,39.65:2.35,0.00,25.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:79.5,25.2,55.0:0,0,0:0,0,0:0,51,47:118,100,103:0,46,22:-,chr1 g.166244970_166244971insA (intergenic):-,0.3:-,NOT_FOUND 1 166245037 rs1823620 A G 241 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.1368,G/0.8632;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:185:C,G:69:41:0:0:1,68:11,2091:0.17,241.01:0.17,101.68:0.00,139.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:191.0,45.4:0,0:0,0:84,74:62,61:0,27:chr1 g.166245036A>G (intergenic),chr1 g.166245036A>G (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 1 166245170 rs3813991 G C 37 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.7436,C/0.2564,T/.;PC=0.963 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:3:0:0:13,12:384,366:37.01,0.00:1.48,0.00:35.54,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:39.2,7.8:0,0:0,0:69,103:79,47:33,33:chr1 g.166245169G>C (intergenic),-:0.23,-:NOT_FOUND,- 1 166245453 rs2599511 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4649,C/0.5351;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:4:0:0:3,2:75,69:7.46,0.00:5.31,0.00:2.15,0.00:0.78,0.00:0.97,0.00:0.87,0.00:60,60:67.7,0.0:0,0:0,0:72,78:78,71:32,19:chr1 g.166245452T>C (intergenic),-:0.58,-:NOT_FOUND,- 1 166246419 rs2488896 A G 286 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.1344,G/0.8656;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:59:0:0:84:2465:285.90:141.45:144.45:1.00:1.00:1.00:60:37.1:0:0:62:88:43:chr1 g.166246418A>G (intergenic),chr1 g.166246418A>G (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 1 166246864 rs55968043 G A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6717,A/0.3283;PC=0.736 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:A,G:10:1:0:0:6,4:201,133:20.04,0.00:1.83,0.00:18.21,0.00:0.99,0.00:0.73,0.00:0.99,0.00:60,60:39.2,0.0:0,0:0,0:97,85:51,65:28,4:chr1 g.166246863G>A (intergenic),-:0.3,-:NOT_FOUND,- 1 166246961 rs55930559 T C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6717,C/0.3283;PC=0.084 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:C,T:5:1:0:0:4,1:138,18:14.63,0.00:3.88,0.00:10.75,0.00:0.96,0.00:0.87,0.00:1.00,0.00:60,60:51.5,75.0:0,0:0,0:90,59:60,92:28,0:chr1 g.166246960T>C (intergenic),-:0.3,-:NOT_FOUND,- 1 166581142 rs579545 T C 22 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4738,C/0.5262;Gene=FMO9P/NR_002925.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:193:22.16:20.27:1.89:1.00:1.00:1.00:60:40.5:0:0:50:100:38:NR_002925.2(FMO9P) n.168-555T>C,NR_002925.2(FMO9P) n.168-555T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 166581241 . TACACACAC T 8 idl,rn VT=DEL;SST=Single;DP=11;NP=3;Gene=FMO9P/NR_002925.2/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:TACACACAC,T:8:8:0:7:5,3:166,185:0.00,8.25:0.00,4.19:0.00,4.06:0.00,0.60:0.00,0.89:0.00,0.78:60,60:27.8,13.0:0,3:0,0:105,63:35,87:4,29:-,NR_002925.2(FMO9P) n.168-455_168-448delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 166716641 rs524612 A C 30 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4818,C/0.5182;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:261:29.91:27.92:1.99:1.00:1.00:1.00:60:37.9:0:0:79:71:36:chr1 g.166716640A>C (intergenic),chr1 g.166716640A>C (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 1 166717206 rs1815531 T C 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.07308,C/0.9269;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:6:0:0:8:264:30.21:20.72:9.49:1.00:1.00:1.00:60:48.4:0:0:67:80:26:chr1 g.166717205T>C (intergenic),chr1 g.166717205T>C (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 1 166717477 rs60029139 CT C 99 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=CT/0.07328,C/0.9267;NP=3294;PC=0.959;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:21:0:26:26:863:98.70:63.56:35.14:1.00:1.00:1.00:60:3.5:0:0:57:85:24:chr1 g.166717478delT (intergenic),chr1 g.166717478delT (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 1 166717685 rs533295 A G 278 nt VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.07129,G/0.9287 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:70:0:0:80:2409:278.46:183.63:94.83:1.00:1.00:1.00:60:38.0:0:0:49:100:33:chr1 g.166717684A>G (intergenic),chr1 g.166717684A>G (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 1 166720402 rs3077029 A AAC 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,AAC:8:6:3:0:5,3:142,88:0.00,7.95:0.00,4.16:0.00,3.79:0.00,0.67:0.00,0.93:0.00,0.85:60,60:15.4,16.3:0,0:0,0:94,53:50,87:4,10:-,chr1 g.166720402_166720403insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 166810326 . G . . NT END=166815848;NT GT ./. 1 166815976 . G . . NT END=166816730;NT GT ./. 1 166816830 . G . . NT END=166818174;NT GT ./. 1 166819647 . A . . NT END=166826803;NT GT ./. 1 166826752 rs34671474 A G 131 nt VT=SNV;PN=A;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.9948,G/0.005192;NP=109;Gene=TADA1/NM_053053.3/1;CC=c.*52T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:85:75:0:0:43,1,41:1379,13,1371:0.00,-0.00,131.36:0.00,-0.18,101.12:0.00,0.17,30.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.2,180.0,38.1:0,0,0:0,0,0:50,1,55:100,150,92:27,0,24:-,NM_053053.3(TADA1) c.*52T>C:-,0.01:-,0.014998 1 166826957 . C . . NT END=166827355;NT GT ./. 1 166827003 rs372034751 T TA 87 nt VT=INS;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.9954,TA/0.004593;NP=110;Gene=TADA1/NM_053053.3/1;CC=c.856-48dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,TA:62:20:29:0:2,1,30,29:59,12,900,906:3.45,0.02,0.00,86.68:1.50,-0.05,0.00,21.35:1.95,0.07,0.00,65.33:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:45.0,42.0,4.5,9.2:2,0,0,0:0,0,0,0:84,16,83,83:65,134,67,67:7,0,28,26:-,NM_053053.3(TADA1) c.856-48_856-47insT:-,NOT_FOUND:-,0.013101 1 166827519 . C . . NT END=166829422;NT GT ./. 1 166829575 . C . . NT END=166831439;NT GT ./. 1 166831650 . C . . NT END=166833060;NT GT ./. 1 166833159 . C . . NT END=166838681;NT GT ./. 1 166838748 . C . . NT END=166838999;NT GT ./. 1 166839092 . C . . NT END=166845396;NT GT ./. 1 166845471 . T . . NT END=166888591;NT GT ./. 1 166888628 . C . . NT END=166889897;NT GT ./. 1 166890617 . C . . NT END=166891829;NT GT ./. 1 166892047 . C . . NT END=166896303;NT GT ./. 1 166896418 . C . . NT END=166902732;NT GT ./. 1 166902776 . A . . NT END=166904537;NT GT ./. 1 166904715 . C . . NT END=166905827;NT GT ./. 1 166905975 . C . . NT END=166908750;NT GT ./. 1 166908808 . C . . NT END=166913009;NT GT ./. 1 166913123 . C . . NT END=166925969;NT GT ./. 1 166926090 . C . . NT END=166927005;NT GT ./. 1 166926999 rs34175991 T C 106 nt VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.994,C/0.00599;Gene=ILDR2/NM_199351.2/1;CC=c.379+7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:59:57:0:0:1,32,26:10,1080,779:-0.03,106.00,0.00:0.00,96.41,0.00:-0.04,9.59,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:51.0,44.3,8.9:0,0,0:0,0,0:83,30,34:68,120,104:0,23,25:NM_199351.2(ILDR2) c.379+7A>G,-:0.01,-:0.020529,- 1 166927339 . C . . NT END=166944459;NT GT ./. 1 166944273 . TCA T 7 rn VT=DEL;SST=Single;DP=4;Gene=ILDR2/NM_199351.2/1;CC=c.46+185_46+186delTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:TCA,T:3:4:0:4:1,2:9,86:0.00,6.77:0.00,6.77:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,70:54.0,7.0:0,1:0,0:72,48:79,102:0,43:-,NM_199351.2(ILDR2) c.46+185_46+186delTG:-,NOT_FOUND:-,NOT_FOUND 1 166944521 . A . . NT END=166958589;NT GT ./. 1 166958722 . G . . NT END=166958973;NT GT ./. 1 166959067 . G . . NT END=166960614;NT GT ./. 1 166960715 . G . . NT END=166961922;NT GT ./. 1 166962079 . G . . NT END=166963264;NT GT ./. 1 166963307 . G . . NT END=166973416;NT GT ./. 1 166973542 . G . . NT END=166974312;NT GT ./. 1 166974368 . G . . NT END=166974492;NT GT ./. 1 166974635 . G . . NT END=166985458;NT GT ./. 1 166985522 . G . . NT END=166987063;NT GT ./. 1 166987197 . G . . NT END=166990321;NT GT ./. 1 166990398 . G . . NT END=166990904;NT GT ./. 1 166991093 . T . . NT END=167023570;NT GT ./. 1 167023704 . C . . NT END=167024212;NT GT ./. 1 167024349 . C . . NT END=167024966;NT GT ./. 1 167025087 . C . . NT END=167032818;NT GT ./. 1 167025917 . C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;PC=0.007;Gene=GPA33/NM_005814.2/1;CC=c.572-831G>C;VC=Intron;DM=GPA33/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,G:4:3:0:0:2,2:49,69:0.00,6.66:0.00,5.26:0.00,1.39:0.00,0.51:0.00,0.89:0.00,0.89:60,58:7.0,185.5:0,0:0,0:47,90:81,29:31,8:-,NM_005814.1(GPA33) c.572-831G>C:-,NOT_FOUND:-,NOT_FOUND 1 167032796 rs12742013 C T 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.9065,T/0.09345;Gene=GPA33/NM_005814.2/1;CC=c.571+23G>A;VC=Intron;DM=GPA33/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:67:0:0:37,31:1128,1022:0.00,96.63:0.00,73.68:0.00,22.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,51.7:1,0:0,0:53,74:98,76:36,33:-,NM_005814.1(GPA33) c.571+23G>A:-,0.11:-,0.153852 1 167032975 . C . . NT END=167038158;NT GT ./. 1 167033041 . T C 7 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;Gene=GPA33/NM_005814.2/1;CC=c.416-67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,C,T:40:10:0:0:1,4,35:14,107,951:0.06,7.06,0.00:0.42,8.54,0.00:-0.36,-1.48,0.00:0.00,0.59,0.00:0.00,0.58,0.00:0.00,0.92,0.00:60,60,60:14.0,94.8,17.2:0,0,0:0,0,0:149,124,102:2,16,46:0,10,34:NM_005814.1(GPA33) c.416-67A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 167033046 . A C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;Gene=GPA33/NM_005814.2/1;CC=c.416-72T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,C,G:33:5:0:0:29,3,1:796,98,10:0.00,6.91,-0.13:0.00,8.07,-0.01:0.00,-1.16,-0.12:0.00,0.41,0.00:0.00,0.37,0.00:0.00,0.86,0.00:60,60,60:17.0,94.0,44.0:0,0,0:0,0,0:93,138,96:58,11,55:36,5,0:-,NM_005814.1(GPA33) c.416-72T>G:-,NOT_FOUND:-,NOT_FOUND 1 167038376 . C . . NT END=167042621;NT GT ./. 1 167042590 rs12139875 C T 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.8604,T/0.1396;PC=0.002;Gene=GPA33/NM_005814.2/1;CC=c.198+32G>A;VC=Intron;DM=GPA33/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:32:29:0:0:1,17,14:11,555,447:0.08,0.00,42.09:0.13,0.00,31.15:-0.05,0.00,10.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:34.0,5.6,49.8:0,0,0:0,0,0:12,48,41:138,103,110:0,33,19:-,NM_005814.1(GPA33) c.198+32G>A:-,0.15:-,0.21344 1 167042777 . C . . NT END=167059481;NT GT ./. 1 167057147 rs67780847 T A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.6799,A/0.3201;Gene=GPA33/NM_005814.2/1;CC=c.43+2335A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:123:14.21:8.69:5.52:1.00:1.00:1.00:60:48.0:0:0:110:23:18:NM_005814.1(GPA33) c.43+2335A>T,NM_005814.1(GPA33) c.43+2335A>T:0.32,0.32:NOT_FOUND,NOT_FOUND 1 167059336 rs2281964 C T 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6843,T/0.3157;Gene=GPA33/NM_005814.2/1;CC=c.43+146G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:8,13:240,417:0.00,41.81:0.00,41.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:22.6,52.9:0,0:0,0:44,57:107,94:32,34:-,NM_005814.1(GPA33) c.43+146G>A:-,0.34:-,NOT_FOUND 1 167059462 rs2281963 G C 205 nt VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.6164,C/0.3836;Gene=GPA33/NM_005814.2/1;CC=c.43+20C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C:55:41:0:0:55:1793:205.43:116.42:89.01:1.00:1.00:1.00:60:45.9:0:0:54:87:27:NM_005814.1(GPA33) c.43+20C>G,NM_005814.1(GPA33) c.43+20C>G:0.41,0.41:0.510457,0.510457 1 167059525 . G . . NT END=167064086;NT GT ./. 1 167059575 rs28384507 G T 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.6647,T/0.3353;Gene=GPA33/NM_005814.2/1;CC=c.-51C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:48:30:0:0:24,24:768,770:0.00,74.04:0.00,29.54:0.00,44.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.5,52.3:0,0:0,0:104,103:46,30:22,23:-,NM_005814.1(GPA33) c.-51C>A:-,0.36:-,0.435261 1 167059760 rs2281962 A G 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.6859,G/0.3141;PC=0.001;Gene=GPA33/NM_005814.2/1;CC=c.-236T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,G:10:0:0:0:6,4:181,125:0.00,11.49:0.00,0.00:0.00,11.49:0.00,0.84:0.00,0.00:0.00,0.84:60,60:5.0,51.2:0,0:0,0:122,102:27,48:17,32:-,NM_005814.1(GPA33) c.-236T>C:-,0.34:-,NOT_FOUND 1 167064017 rs16858433 A G 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.9617,G/0.03834 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:29:27:0:0:14,14,1:423,437,10:0.00,41.93,0.07:0.00,35.28,0.10:0.00,6.65,-0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.97,0.00:60,60,60:6.9,38.1,10.0:0,0,0:0,0,0:29,72,115:120,70,36:10,23,0:-,NM_001080426.1(DUSP27) c.1-u70A>G:-,0.04:-,NOT_FOUND 1 167064197 . G . . NT END=167082946;NT GT ./. 1 167082869 rs12122365 G A 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.3337,A/0.6663;Gene=DUSP27/NM_001080426.1/1;CC=c.111-78G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:10,8:328,280:32.20,0.00:23.35,0.00:8.85,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:39.5,0.0:0,0:0,0:35,36:114,114:18,22:NM_001080426.1(DUSP27) c.111-78G>A,-:0.7,-:NOT_FOUND,- 1 167083042 . G . . NT END=167086564;NT GT ./. 1 167086797 . G . . NT END=167088485;NT GT ./. 1 167088704 . G . . NT END=167095023;NT GT ./. 1 167095163 rs267745 G C 236 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=G/0.358,C/0.642,T/.;Gene=DUSP27/NM_001080426.1/1;CC=c.795G>C;ProtCh=p.E265D;VC=Missense;DM=DUSP27/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:146:95:0:0:76,69,1:2437,2223,11:236.41,0.00,-0.12:131.33,0.00,-0.01:105.08,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.1,12.1,11.0:0,0,0:0,0,0:66,75,138:84,75,11:35,42,0:NM_001080426.1(DUSP27) c.795G>C (p.Glu265Asp),-:0.66,-:0.60203,- 1 167095765 rs6668826 G A 320 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=197;DB;DBA=NA;PAF=NA;Gene=DUSP27/NM_001080426.1/1;CC=c.1397G>A;ProtCh=p.R466H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:197:140:0:0:104,93:3297,2937:320.13,0.00:180.09,0.00:140.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,11.9:0,0:0,0:71,67:70,79:40,34:NM_001080426.1(DUSP27) c.1397G>A (p.Arg466His),-:0.35,-:0.200246,- 1 167095881 rs3795605 G A 332 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=225;DB;DBA=NA;PAF=G/0.6707,A/0.3293;PC=0.141;Gene=DUSP27/NM_001080426.1/1;CC=c.1513G>A;ProtCh=p.A505T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:225:155:0:0:110,114,1:3467,3587,10:331.82,0.00,-0.15:167.80,0.00,-0.05:164.01,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.1,10.1,103.0:0,0,0:0,0,0:85,53,78:66,94,73:38,31,0:NM_001080426.1(DUSP27) c.1513G>A (p.Ala505Thr),-:0.35,-:0.199831,- 1 167097739 rs2281959 C A 234 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=164;DB;DBA=NA;PAF=C/0.6178,A/0.3822;PC=0.002;Gene=DUSP27/NM_001080426.1/1;CC=c.3371C>A;ProtCh=p.T1124N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:164:106:0:0:78,86:2457,2727:233.53,0.00:105.83,0.00:127.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,13.2:0,0:0,0:83,58:63,86:32,28:NM_001080426.1(DUSP27) c.3371C>A (p.Thr1124Asn),-:0.42,-:0.301092,- 1 167097846 . G . . NT END=167190134;NT GT ./. 1 167098095 rs66619221 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6134,A/0.3866;Gene=DUSP27/NM_001080426.1/1;CC=c.*250G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:14:0:0:0:6,8:161,285:14.78,0.00:0.00,0.00:14.78,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:55.8,1.5:0,0:0,0:124,97:27,54:14,27:NM_001080426.1(DUSP27) c.*250G>A,-:0.42,-:NOT_FOUND,- 1 167190196 . G . . NT END=167298280;NT GT ./. 1 167298544 . G . . NT END=167301706;NT GT ./. 1 167301773 . G . . NT END=167334703;NT GT ./. 1 167334805 . G . . NT END=167339397;NT GT ./. 1 167339452 . G . . NT END=167341153;NT GT ./. 1 167339632 rs3736846 A C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2099,C/0.7901;Gene=POU2F1/NM_001198786.1/0;CC=c.282+181A>C;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.282+181A>C;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.249+181A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:137:15.61:0.00:15.61:1.00:0.00:1.00:60:36.5:0:0:88:61:16:NM_002697.3(POU2F1) c.282+181A>C,NM_002697.3(POU2F1) c.282+181A>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 167341274 . G . . NT END=167343344;NT GT ./. 1 167343534 . G . . NT END=167345265;NT GT ./. 1 167345218 rs2273963 A C 65 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.8736,C/0.1264,G/.;Gene=POU2F1/NM_001198786.1/0;CC=c.403-48A>C;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.592-48A>C;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.559-48A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:40:0:0:22,21:692,679:0.00,64.98:0.00,57.97:0.00,7.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,42.6:0,0:0,0:60,47:80,103:32,24:-,NM_002697.3(POU2F1) c.592-48A>C:-,0.15:-,0.157182 1 167345393 . G . . NT END=167353093;NT GT ./. 1 167345511 rs12730995 T G 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9868,G/0.01318;Gene=POU2F1/NM_001198786.1/0;CC=c.529+119T>G;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.718+119T>G;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.685+119T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:18:0:0:0:11,7:348,230:34.80,0.00:0.00,0.00:34.80,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.4,11.3:0,0:0,0:108,90:41,61:32,15:NM_002697.3(POU2F1) c.718+119T>G,-:0.02,-:NOT_FOUND,- 1 167353189 . G . . NT END=167358824;NT GT ./. 1 167353258 rs397981842 AT A 50 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=AT/0.233,A/0.767;DB;DBA=NA;PAF=AT/0.233,A/0.767;NP=1677;Gene=POU2F1/NM_001198786.1/0;CC=c.624+80delT;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.813+80delT;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.780+80delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:AT,A:15:5:0:14:1,14:34,445:0.00,49.58:0.00,6.76:0.00,42.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,7.7:0,0:0,0:118,119:7,32:0,12:NM_002697.3(POU2F1) c.813+71delT,NM_002697.3(POU2F1) c.813+71delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 167358639 rs34001419 G T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9868,T/0.01318;Gene=POU2F1/NM_001198786.1/0;CC=c.625-186G>T;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.814-186G>T;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.781-186G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:G,T:10:10:0:0:4,6:136,199:0.00,19.84:0.00,19.84:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:5.5,35.2:0,0:0,0:52,54:98,96:16,7:-,NM_002697.3(POU2F1) c.814-186G>T:-,0.02:-,NOT_FOUND 1 167358999 . G . . NT END=167365522;NT GT ./. 1 167365665 . G . . NT END=167367230;NT GT ./. 1 167367193 rs7524019 C T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.5401,T/0.4599;Gene=POU2F1/NM_001198786.1/0;CC=c.941-38C>T;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.1130-38C>T;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.1097-38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:35:0:0:20,17:580,535:0.00,50.55:0.00,45.27:0.00,5.28:0.00,1.00:0.00,1.00:0.00,0.99:60,60:22.8,37.6:0,0:0,0:44,44:106,106:23,24:-,NM_002697.3(POU2F1) c.1130-38C>T:-,0.47:-,0.352837 1 167367371 . G . . NT END=167368422;NT GT ./. 1 167368603 . G . . NT END=167370687;NT GT ./. 1 167370794 . G . . NT END=167381195;NT GT ./. 1 167381542 . G . . NT END=167382262;NT GT ./. 1 167381640 rs35736613 A AG 65 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.3596,G/0.000599;DB;DBA=NA;PAF=A/0.3596,AG/0.6398;NP=637;Gene=POU2F1/NM_001198786.1/0;CC=c.1712+99_1712+100insG;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.1901+99_1901+100insG;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.1868+99_1868+100insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:AG:18:0:18:0:18:569:65.48:0.00:65.48:1.00:0.00:1.00:60:6.3:0:0:94:57:28:NM_002697.3(POU2F1) c.1901+99_1901+100insG,NM_002697.3(POU2F1) c.1901+99_1901+100insG:0.66,0.66:NOT_FOUND,NOT_FOUND 1 167381696 rs61121372 CTTTGA C 32 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CTTTGA/0.397,C/0.603;DB;DBA=NA;PAF=CTTTGA/0.397,C/0.603;NP=116;Gene=POU2F1/NM_001198786.1/0;CC=c.1712+158_1712+162delTGATT;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.1901+158_1901+162delTGATT;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.1868+158_1868+162delTGATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CTTTGA,C:10:0:0:9:1,9:15,289:0.00,31.82:0.00,0.00:0.00,31.82:0.00,1.00:0.00,0.00:0.00,1.00:60,60:80.0,2.3:0,0:0,0:149,120:2,31:0,16:NM_002697.3(POU2F1) c.1901+156_1901+160delTTTGA,NM_002697.3(POU2F1) c.1901+156_1901+160delTTTGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 167382352 . G . . NT END=167383569;NT GT ./. 1 167382374 rs10753757 A C 122 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.23,C/0.77;Gene=POU2F1/NM_001198786.1/0;CC=c.1801+23A>C;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.1990+23A>C;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.1957+23A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:14:0:0:31:1072:121.99:35.39:86.59:1.00:1.00:1.00:60:39.9:0:0:95:49:36:NM_002697.3(POU2F1) c.1990+23A>C,NM_002697.3(POU2F1) c.1990+23A>C:0.78,0.78:0.704213,0.704213 1 167382399 rs67647055 AGTGT A 51 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=506;PC=0.001;Gene=POU2F1/NM_001198786.1/0;CC=c.1801+72_1801+75delTGTG;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.1990+72_1990+75delTGTG;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.1957+72_1957+75delTGTG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:AGTGT,A:19:10:0:20:4,15:137,644:0.00,50.68:0.00,19.52:0.00,31.16:0.00,1.00:0.00,1.00:0.00,1.00:60,70:35.0,47.2:0,5:0,0:135,83:15,61:3,18:-,NM_002697.3(POU2F1) c.1990+49_1990+52delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 167383472 rs3767432 T C 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.8852,C/0.1148;PC=0.001;Gene=POU2F1/NM_001198786.1/0;CC=c.1801+1121T>C;VC=Intron;Gene=POU2F1/NM_002697.3/0;CC=c.1990+1121T>C;VC=Intron;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.1957+1121T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:31:0:0:17,15:530,483:51.48,0.00:42.54,0.00:8.94,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:49.3,8.7:0,0:0,0:24,45:126,106:11,14:NM_002697.3(POU2F1) c.1990+1121T>C,-:0.14,-:NOT_FOUND,- 1 167383950 . T . . NT END=167384736;NT GT ./. 1 167385048 . G . . NT END=167400917;NT GT ./. 1 167385063 rs74119502 G A 64 nt VT=SNV;PN=G;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.9868,A/0.01318;PC=0.984;Gene=POU2F1/NM_001198786.1/0;CC=c.*16G>A;VC=3UTR;Gene=POU2F1/NM_002697.3/0;CC=c.*16G>A;VC=3UTR;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.*16G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:57:25:0:0:21,1,35:696,9,1185:63.53,-0.14,0.00:23.68,-0.08,0.00:39.85,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.0,88.0,18.2:0,0,0:0,0,0:101,125,79:46,26,72:32,0,36:NM_002697.3(POU2F1) c.*16G>A,-:0.02,-:0.026534,- 1 167385064 rs74121903 C T 61 nt VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.9868,T/0.01318;PC=0.915;Gene=POU2F1/NM_001198786.1/0;CC=c.*17C>T;VC=3UTR;Gene=POU2F1/NM_002697.3/0;CC=c.*17C>T;VC=3UTR;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.*17C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:25:0:0:36,21:1204,674:0.00,61.13:0.00,23.38:0.00,37.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.8,68.0:0,0:0,0:90,102:51,45:26,32:-,NM_002697.3(POU2F1) c.*17C>T:-,0.02:-,0.026684 1 167385178 rs35216157 G GA 12 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.028;Gene=POU2F1/NM_001198786.1/0;CC=c.*146dupA;VC=3UTR;Gene=POU2F1/NM_002697.3/0;CC=c.*146dupA;VC=3UTR;Gene=POU2F1/NR_037163.1/0;VC=NonCoding;Gene=POU2F1/NM_001198783.1/1;CC=c.*146dupA;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:G,GA:14:1:7:1:9,5:213,200:0.00,12.10:0.00,-0.08:0.00,12.18:0.00,0.88:0.00,0.54:0.00,0.88:60,60:19.7,69.8:0,2:0,0:144,102:5,48:6,14:-,NM_002697.3(POU2F1) c.*146dupA:-,NOT_FOUND:-,NOT_FOUND 1 167400984 . C . . NT END=167402260;NT GT ./. 1 167402297 . C . . NT END=167403256;NT GT ./. 1 167403212 rs952963 G A 146 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8429,A/0.1571;PC=0.001;Gene=CD247/NM_000734.3/0;CC=c.390+45C>T;VC=Intron;Gene=CD247/NM_198053.2/1;CC=c.393+45C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A:40:34:0:0:40:1274:146.44:99.30:47.15:1.00:1.00:1.00:60:34.1:0:0:47:98:25:NM_198053.2(CD247) c.393+45C>T,NM_198053.2(CD247) c.393+45C>T:0.16,0.16:0.143626,0.143626 1 167403314 . C . . NT END=167404635;NT GT ./. 1 167404672 . C . . NT END=167407806;NT GT ./. 1 167407888 . C . . NT END=167408580;NT GT ./. 1 167408460 rs33930807 G A 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9876,A/0.01238;Gene=CD247/NM_000734.3/0;CC=c.219+121C>T;VC=Intron;Gene=CD247/NM_198053.2/1;CC=c.219+121C>T;VC=Intron;DM=CD247/ITAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:24:0:0:24:797:91.14:91.14:0.00:1.00:1.00:0.00:60:62.0:0:0:42:108:28:NM_198053.2(CD247) c.219+121C>T,NM_198053.2(CD247) c.219+121C>T:0.02,0.02:NOT_FOUND,NOT_FOUND 1 167408565 rs12141641 G T 296 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.8564,T/0.1436;Gene=CD247/NM_000734.3/0;CC=c.219+16C>A;VC=Intron;Gene=CD247/NM_198053.2/1;CC=c.219+16C>A;VC=Intron;DM=CD247/ITAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:77:65:0:0:1,76:6,2611:0.00,295.99:0.00,184.21:0.00,111.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:148.0,46.0:0,0:0,0:116,48:35,101:0,21:NM_198053.2(CD247) c.219+16C>A,NM_198053.2(CD247) c.219+16C>A:0.17,0.17:0.103337,0.103337 1 167408638 . C . . NT END=167409900;NT GT ./. 1 167408874 rs1404567 A G 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8562,G/0.1438;Gene=CD247/NM_000734.3/0;CC=c.163-237T>C;VC=Intron;Gene=CD247/NM_198053.2/1;CC=c.163-237T>C;VC=Intron;DM=CD247/TCR_zetazeta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:377:43.87:0.00:43.87:1.00:0.00:1.00:60:44.8:0:0:88:63:34:NM_198053.2(CD247) c.163-237T>C,NM_198053.2(CD247) c.163-237T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 1 167410005 . C . . NT END=167417579;NT GT ./. 1 167417725 . C . . NT END=167487644;NT GT ./. 1 167417884 rs2949669 C T 117 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8249,T/0.1751;Gene=CD247/NM_000734.3/0;CC=c.59-7880G>A;VC=Intron;Gene=CD247/NM_198053.2/1;CC=c.59-7880G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:3:0:0:33:1012:116.86:6.45:110.41:1.00:1.00:1.00:60:44.9:0:0:115:36:26:NM_198053.2(CD247) c.59-7880G>A,NM_198053.2(CD247) c.59-7880G>A:0.21,0.21:NOT_FOUND,NOT_FOUND 1 167487703 . C . . NT END=167511534;NT GT ./. 1 167487880 rs3820390 C T 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9561,T/0.04393;PC=0.544 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:6:0:0:0:1,5:33,159:0.00,17.11:0.00,0.00:0.00,17.11:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,31.8:0,0:0,0:107,87:44,63:0,30:-,NM_198053.2(CD247) c.-145-u33G>A:-,0.06:-,NOT_FOUND 1 167511539 . C . . NT END=167515337;NT GT ./. 1 167515272 rs7513428 T C 63 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1438,C/0.8562;Gene=CREG1/NM_003851.2/1;CC=c.659+66A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:15:0:0:17:550:63.09:56.87:6.22:1.00:1.00:1.00:60:36.9:0:0:49:102:22:NM_003851.2(CREG1) c.659+66A>G,NM_003851.2(CREG1) c.659+66A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 167515523 . C . . NT END=167517238;NT GT ./. 1 167517359 . C . . NT END=167522624;NT GT ./. 1 167522453 rs2995069 C T 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1032,T/0.8968;Gene=CREG1/NM_003851.2/1;CC=c.354+172G>A;VC=Intron;DM=CREG1/Pyrid_oxidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:265:30.75:30.75:0.00:1.00:1.00:0.00:60:37.2:0:0:55:96:12:NM_003851.2(CREG1) c.354+172G>A,NM_003851.2(CREG1) c.354+172G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 167522979 . G . . NT END=167599660;NT GT ./. 1 167523188 rs6667180 T A 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4569,A/0.5431 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:256:29.41:0.00:29.41:1.00:0.00:1.00:60:34.1:0:0:125:26:20:NM_003851.2(CREG1) c.-78-u132A>T,NM_003851.2(CREG1) c.-78-u132A>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 167599583 rs3738221 G A 111 nt VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.874,A/0.126;PC=0.023;Gene=RCSD1/NM_052862.3/1;CC=c.-78G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:79:0:0:36,49:1188,1666:110.84,0.00:77.14,0.00:33.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,10.5:0,0:0,0:56,59:89,85:40,37:NM_052862.3(RCSD1) c.-78G>A,-:0.16,-:NOT_FOUND,- 1 167599667 . G . . NT END=167653136;NT GT ./. 1 167653239 . G . . NT END=167654657;NT GT ./. 1 167654748 . G . . NT END=167659285;NT GT ./. 1 167659358 . G . . NT END=167663335;NT GT ./. 1 167663540 . G . . NT END=167666335;NT GT ./. 1 167667080 . G . . NT END=167673900;NT GT ./. 1 167673934 . A . . NT END=167691388;NT GT ./. 1 167691480 . G . . NT END=167734819;NT GT ./. 1 167730020 rs4656557 G C,GTC 10 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6651,C/0.3349;NP=1;NP=212;NP=30;NP=66;PC=0.608;DM=MPZL1/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:C,G,GTC:7:5:3:0:2,2,3:72,70,98:6.77,0.00,9.64:1.55,0.00,6.25:5.23,0.00,3.39:0.00,0.00,0.69:0.00,0.00,0.93:0.00,0.00,0.89:60,60,60:69.5,37.5,31.7:0,0,0:0,0,0:56,86,54:95,37,97:32,44,16:NM_003953.5(MPZL1) c.92-4800G>C,NM_003953.5(MPZL1) c.92-4800_92-4799insTC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 167730059 rs4657707 G A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.277,A/0.723;PC=0.022;Gene=MPZL1/NM_001146191.1/0;CC=c.92-4761G>A;VC=Intron;Gene=MPZL1/NM_003953.5/1;CC=c.92-4761G>A;VC=Intron;Gene=MPZL1/NM_024569.4/0;CC=c.92-4761G>A;VC=Intron;DM=MPZL1/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:5:4:0:0:4,1:135,34:14.32,0.00:9.05,0.00:5.27,0.00:0.96,0.00:1.00,0.00:0.99,0.00:60,60:58.5,10.0:0,0:0,0:87,117:63,-3:16,0:NM_003953.5(MPZL1) c.92-4761G>A,-:0.74,-:NOT_FOUND,- 1 167734987 . G . . NT END=167741511;NT GT ./. 1 167741726 . G . . NT END=167742472;NT GT ./. 1 167742606 . G . . NT END=167745300;NT GT ./. 1 167745404 . G . . NT END=167757056;NT GT ./. 1 167757159 . G . . NT END=167778914;NT GT ./. 1 167775536 rs151154437 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5214,C/0.4786;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:13:0:0:8,7:251,197:24.39,0.00:15.46,0.00:8.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.4,37.6:0,0:0,0:71,51:61,95:17,16:chr1 g.167775535T>C (intergenic),-:0.43,-:NOT_FOUND,- 1 167775587 rs150960419 C T 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5363,T/0.4637;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:13:0:0:9,8:295,251:0.00,23.81:0.00,11.77:0.00,12.04:0.00,0.99:0.00,1.00:0.00,1.00:60,60:17.6,86.9:0,0:0,0:92,71:53,63:18,33:-,chr1 g.167775586C>T (intergenic):-,0.38:-,NOT_FOUND 1 167778843 rs3213588 G A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.529,A/0.471;Gene=ADCY10/NM_001167749.2/0;CC=c.*72C>T;VC=3UTR;Gene=ADCY10/NM_001297772.1/0;CC=c.*72C>T;VC=3UTR;Gene=ADCY10/NM_018417.5/1;CC=c.*72C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:14:10:0:0:6,8:189,244:17.61,0.00:13.30,0.00:4.31,0.00:0.96,0.00:0.99,0.00:0.95,0.00:60,60:43.5,3.1:0,0:0,0:39,48:110,102:18,21:NM_018417.4(ADCY10) c.*72C>T,-:0.45,-:NOT_FOUND,- 1 167779077 . C . . NT END=167779961;NT GT ./. 1 167780151 . C . . NT END=167787309;NT GT ./. 1 167787265 rs12060498 C T 84 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.881,T/0.119;Gene=ADCY10/NM_001167749.2/0;CC=c.4023+45G>A;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.4206+45G>A;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.4482+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:39:35:0:0:1,13,25:11,422,827:0.13,0.00,84.01:0.15,0.00,66.24:-0.02,0.00,17.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:75.0,4.2,40.5:0,0,0:0,0,0:76,28,42:75,122,109:0,22,26:-,NM_018417.4(ADCY10) c.4482+45G>A:-,0.14:-,0.178533 1 167787506 . C . . NT END=167791261;NT GT ./. 1 167789475 rs4657721 G C 254 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1415;PC=0.017;Gene=ADCY10/NM_001167749.2/0;CC=c.3827+1787C>G;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.4010+1787C>G;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.4286+1787C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:66:40:0:0:66:2222:253.60:98.07:155.53:1.00:1.00:1.00:60:40.1:0:0:89:45:25:NM_018417.4(ADCY10) c.4286+1787C>G,NM_018417.4(ADCY10) c.4286+1787C>G:1,1:NOT_FOUND,NOT_FOUND 1 167791380 . C . . NT END=167792245;NT GT ./. 1 167792079 rs2269673 G T 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4317,T/0.5683;PC=0.001;Gene=ADCY10/NM_001167749.2/0;CC=c.3709+167C>A;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.3892+167C>A;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.4168+167C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,T:15:15:0:0:6,9:191,268:0.00,26.66:0.00,26.66:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.8,29.8:0,0:0,0:55,32:94,118:21,12:-,NM_018417.4(ADCY10) c.4168+167C>A:-,0.58:-,NOT_FOUND 1 167792362 . C . . NT END=167793713;NT GT ./. 1 167793477 rs1476073 T C 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4495,C/0.5505;Gene=ADCY10/NM_001167749.2/0;CC=c.3593+237A>G;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.3776+237A>G;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.4052+237A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,T:7:6:0:0:3,4:78,130:7.13,0.00:3.82,0.00:3.31,0.00:0.69,0.00:0.95,0.00:0.62,0.00:60,60:60.0,2.0:0,0:0,0:79,93:71,57:16,11:NM_018417.4(ADCY10) c.4052+237A>G,-:0.57,-:NOT_FOUND,- 1 167793670 rs1476074 C T 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.6282,T/0.3718;Gene=ADCY10/NM_001167749.2/0;CC=c.3593+44G>A;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.3776+44G>A;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.4052+44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:35:0:0:24,15:727,486:0.00,44.50:0.00,36.68:0.00,7.81:0.00,1.00:0.00,1.00:0.00,0.97:60,60:14.8,36.2:0,0:0,0:70,65:80,86:31,36:-,NM_018417.4(ADCY10) c.4052+44G>A:-,0.41:-,0.393187 1 167793811 . C . . NT END=167793888;NT GT ./. 1 167794094 . C . . NT END=167798504;NT GT ./. 1 167798342 rs12738000 G A 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.9467,A/0.05331;PC=0.001;Gene=ADCY10/NM_001167749.2/0;CC=c.3291+163C>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.3474+163C>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.3750+163C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:10,8:308,250:30.21,0.00:30.21,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.0,13.5:0,0:0,0:37,27:113,123:20,11:NM_018417.4(ADCY10) c.3750+163C>T,-:0.07,-:NOT_FOUND,- 1 167798662 . C . . NT END=167802224;NT GT ./. 1 167802068 rs3738234 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7847,G/0.2153;Gene=ADCY10/NM_001167749.2/0;CC=c.3134+157T>C;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.3317+157T>C;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.3593+157T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,G:12:12:0:0:8,4:263,89:0.00,7.48:0.00,7.48:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:8.5,24.8:0,0:0,0:44,46:107,104:36,21:-,NM_018417.4(ADCY10) c.3593+157T>C:-,0.24:-,NOT_FOUND 1 167802401 . C . . NT END=167803207;NT GT ./. 1 167803316 . C . . NT END=167805546;NT GT ./. 1 167805439 rs7550383 G A 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5288,A/0.4712;Gene=ADCY10/NM_001167749.2/0;CC=c.2850+108C>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.3033+108C>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.3309+108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,G:12:12:0:0:9,3:293,94:30.66,0.00:30.66,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.6,0.0:0,0:0,0:37,72:108,79:25,29:NM_018417.4(ADCY10) c.3309+108C>T,-:0.44,-:NOT_FOUND,- 1 167805779 . C . . NT END=167806486;NT GT ./. 1 167805865 rs36060877 C T 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9343,T/0.06569;Gene=ADCY10/NM_001167749.2/0;CC=c.2619-87G>A;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.2802-87G>A;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.3078-87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:2:0:0:12,12:326,407:0.00,39.27:0.00,3.03:0.00,36.25:0.00,1.00:0.00,0.79:0.00,1.00:60,60:25.7,36.9:0,0:0,0:94,76:56,75:36,46:-,NM_018417.4(ADCY10) c.3078-87G>A:-,0.08:-,NOT_FOUND 1 167806557 . C . . NT END=167814800;NT GT ./. 1 167806647 rs1034463 T A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2903,A/0.7097;Gene=ADCY10/NM_001167749.2/0;CC=c.2549-91A>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.2732-91A>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.3008-91A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:19:5:0:0:11,8:325,219:32.15,0.00:5.21,0.00:26.93,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:56.2,36.5:0,0:0,0:110,111:41,40:24,23:NM_018417.4(ADCY10) c.3008-91A>T,-:0.7,-:NOT_FOUND,- 1 167806696 rs1034464 T C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1556,C/0.8444;Gene=ADCY10/NM_001167749.2/0;CC=c.2549-140A>G;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.2732-140A>G;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.3008-140A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,T:8:0:0:0:5,3:161,71:16.24,0.00:0.00,0.00:16.24,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:92.6,66.7:0,0:0,0:78,84:70,55:14,15:NM_018417.4(ADCY10) c.3008-140A>G,-:0.84,-:NOT_FOUND,- 1 167806714 rs1034465 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5296,A/0.4704;Gene=ADCY10/NM_001167749.2/0;CC=c.2549-158C>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.2732-158C>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.3008-158C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,G:9:0:0:0:5,4:167,113:16.42,0.00:0.00,0.00:16.42,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:92.4,50.0:0,0:0,0:89,94:60,47:21,18:NM_018417.4(ADCY10) c.3008-158C>T,-:0.44,-:NOT_FOUND,- 1 167815092 . C . . NT END=167815222;NT GT ./. 1 167815502 . C . . NT END=167817598;NT GT ./. 1 167815514 rs35398078 G A 93 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.9491,A/0.05092;PC=0.994;Gene=ADCY10/NM_001167749.2/0;CC=c.1979-13C>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.2162-13C>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.2438-13C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:24:0:0:29,33:981,1063:93.34,0.00:23.65,0.00:69.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,9.5:0,0:0,0:70,97:69,51:30,24:NM_018417.4(ADCY10) c.2438-13C>T,-:0.06,-:0.094341,- 1 167817639 rs203795 A G 228 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.1779,G/0.8221;PC=0.002;Gene=ADCY10/NM_001167749.2/0;CC=c.1938T>C;ProtCh=p.G646=;VC=Silent;Gene=ADCY10/NM_001297772.1/0;CC=c.2121T>C;ProtCh=p.G707=;VC=Silent;Gene=ADCY10/NM_018417.5/1;CC=c.2397T>C;ProtCh=p.G799=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:G:63:46:0:0:63:1981:227.92:127.14:100.78:1.00:1.00:1.00:60:38.9:0:0:52:99:32:NM_018417.4(ADCY10) c.2397T>C (p.(=)),NM_018417.4(ADCY10) c.2397T>C (p.(=)):0.81,0.81:0.773258,0.773258 1 167817728 . C . . NT END=167823590;NT GT ./. 1 167817921 rs203796 C A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6611,A/0.3389;PC=0.005;Gene=ADCY10/NM_001167749.2/0;CC=c.1850-194G>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.2033-194G>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.2309-194G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:0:0:0:8,9:251,278:23.83,0.00:0.00,0.00:23.83,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:31.4,9.0:0,0:0,0:111,105:39,45:32,12:NM_018417.4(ADCY10) c.2309-194G>T,-:0.31,-:NOT_FOUND,- 1 167819935 rs458484 G GTA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=4;Gene=ADCY10/NM_001167749.2/0;CC=c.1850-2209_1850-2208insTA;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.2033-2209_2033-2208insTA;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.2309-2209_2309-2208insTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GTA:4:3:2:0:2,2:69,68:0.00,6.55:0.00,3.43:0.00,3.12:0.00,0.51:0.00,0.89:0.00,0.51:60,60:57.0,0.0:0,0:0,0:73,46:71,89:38,8:-,NM_018417.4(ADCY10) c.2309-2209_2309-2208insTA:-,NOT_FOUND:-,NOT_FOUND 1 167823728 . C . . NT END=167825402;NT GT ./. 1 167825116 rs12131250 C G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8686,G/0.1314;PC=0.004;Gene=ADCY10/NM_001167749.2/0;CC=c.1712+287G>C;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.1895+287G>C;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.2171+287G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:60:35.0:0:0:38:110:12:NM_018417.4(ADCY10) c.2171+287G>C,NM_018417.4(ADCY10) c.2171+287G>C:0.12,0.12:NOT_FOUND,NOT_FOUND 1 167825678 . C . . NT END=167829044;NT GT ./. 1 167829132 . C . . NT END=167830108;NT GT ./. 1 167830302 . C . . NT END=167839494;NT GT ./. 1 167839649 . C . . NT END=167844368;NT GT ./. 1 167844104 rs203825 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6837,T/0.3163;Gene=ADCY10/NM_001167749.2/0;CC=c.1003+265G>A;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.1186+265G>A;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1462+265G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:4:4:0:0:1,3:29,108:0.00,11.25:0.00,11.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,36.0:0,0:0,0:95,66:55,85:0,15:-,NM_018417.4(ADCY10) c.1462+265G>A:-,0.32:-,NOT_FOUND 1 167844425 . C . . NT END=167847683;NT GT ./. 1 167844553 rs203826 C A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6843,A/0.3157;PC=0.001;Gene=ADCY10/NM_001167749.2/0;CC=c.948-129G>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.1131-129G>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1407-129G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:15:1:0:0:7,8:242,222:23.04,0.00:1.87,0.00:21.17,0.00:0.99,0.00:0.64,0.00:0.99,0.00:60,60:59.0,9.1:0,0:0,0:117,96:34,55:9,22:NM_018417.4(ADCY10) c.1407-129G>T,-:0.32,-:NOT_FOUND,- 1 167844582 rs203827 C G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6835,G/0.3165;Gene=ADCY10/NM_001167749.2/0;CC=c.948-158G>C;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.1131-158G>C;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1407-158G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,G:13:0:0:0:8,5:214,160:0.00,14.65:0.00,0.00:0.00,14.65:0.00,0.91:0.00,0.00:0.00,0.91:60,60:23.1,69.0:0,0:0,0:90,133:61,18:41,15:-,NM_018417.4(ADCY10) c.1407-158G>C:-,0.32:-,NOT_FOUND 1 167844668 rs11397671 C CT 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1779,CT/.,CTC/0.002796,CTT/0.8193;NP=473;Gene=ADCY10/NM_001167749.2/0;CC=c.948-245_948-244insA;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.1131-245_1131-244insA;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1407-245_1407-244insA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CT:4:0:4:0:4:124:14.31:0.00:14.31:1.00:0.00:1.00:60:39.0:0:0:102:49:14:NM_018417.4(ADCY10) c.1407-245_1407-244insA,NM_018417.4(ADCY10) c.1407-245_1407-244insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 167847520 rs203837 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8442,C/0.1558;Gene=ADCY10/NM_001167749.2/0;CC=c.947+164A>G;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.1130+164A>G;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1406+164A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:C,T:13:13:0:0:6,7:179,169:16.86,0.00:16.86,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:59.8,37.7:0,0:0,0:40,57:111,94:12,40:NM_018417.4(ADCY10) c.1406+164A>G,-:0.14,-:NOT_FOUND,- 1 167847584 rs203838 T C 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.6763,C/0.3237;Gene=ADCY10/NM_001167749.2/0;CC=c.947+100A>G;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.1130+100A>G;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1406+100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:19:0:0:12,7:379,229:38.17,0.00:36.28,0.00:1.89,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:60.8,33.0:0,0:0,0:53,64:98,87:45,37:NM_018417.4(ADCY10) c.1406+100A>G,-:0.33,-:NOT_FOUND,- 1 167847874 . C . . NT END=167849352;NT GT ./. 1 167849318 rs203847 A G 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.7145,G/0.2855;Gene=ADCY10/NM_001167749.2/0;CC=c.757+35T>C;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.940+35T>C;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1216+35T>C;VC=Intron;DM=ADCY10/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:50:0:0:31,29:1045,911:0.00,86.87:0.00,61.37:0.00,25.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,86.2:0,0:0,0:43,41:108,104:28,21:-,NM_018417.4(ADCY10) c.1216+35T>C:-,0.3:-,0.361679 1 167849327 rs203848 G A 90 nt VT=SNV;PN=A;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.8241,A/0.1759;Gene=ADCY10/NM_001167749.2/0;CC=c.757+26C>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.940+26C>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1216+26C>T;VC=Intron;DM=ADCY10/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:50:0:0:29,33:947,1092:89.94,0.00:56.37,0.00:33.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.6,3.8:0,0:0,0:59,47:88,103:21,32:NM_018417.4(ADCY10) c.1216+26C>T,-:0.16,-:0.20306,- 1 167849414 rs203849 A G 79 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.5068,G/0.4932;PC=0.195;Gene=ADCY10/NM_001167749.2/0;CC=c.696T>C;ProtCh=p.G232=;VC=Silent;Gene=ADCY10/NM_001297772.1/0;CC=c.879T>C;ProtCh=p.G293=;VC=Silent;Gene=ADCY10/NM_018417.5/1;CC=c.1155T>C;ProtCh=p.G385=;VC=Silent;DM=ADCY10/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:47:0:0:42,27:1285,865:0.00,79.34:0.00,40.26:0.00,39.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,65.7:0,0:0,0:96,88:50,46:23,25:-,NM_018417.4(ADCY10) c.1155T>C (p.(=)):-,0.48:-,0.534297 1 167849430 . C . . NT END=167849728;NT GT ./. 1 167849658 rs76779157 C G 22 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9483,G/0.05172;PC=0.001;Gene=ADCY10/NM_001167749.2/0;CC=c.680+71G>C;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.863+71G>C;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.1139+71G>C;VC=Intron;DM=ADCY10/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:15:0:0:11,8:348,240:0.00,22.20:0.00,23.27:0.00,-1.07:0.00,0.99:0.00,1.00:0.00,0.93:60,60:2.2,30.9:0,0:0,0:34,84:115,66:21,31:-,NM_018417.4(ADCY10) c.1139+71G>C:-,0.06:-,NOT_FOUND 1 167849848 . C . . NT END=167852674;NT GT ./. 1 167852867 . C . . NT END=167863090;NT GT ./. 1 167863180 . C . . NT END=167865832;NT GT ./. 1 167865740 rs57419373 G A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9545,A/0.04553;Gene=ADCY10/NM_001167749.2/0;CC=c.280+93C>T;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.463+93C>T;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.739+93C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,G:9:9:0:0:7,2:198,69:21.02,0.00:21.02,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:71.6,10.5:0,0:0,0:101,12:49,138:16,7:NM_018417.4(ADCY10) c.739+93C>T,-:0.06,-:NOT_FOUND,- 1 167865871 rs16859886 G A 84 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.9241,A/0.07588;PC=0.994;Gene=ADCY10/NM_001167749.2/0;CC=c.242C>T;ProtCh=p.T81M;VC=Missense;Gene=ADCY10/NM_001297772.1/0;CC=c.425C>T;ProtCh=p.T142M;VC=Missense;Gene=ADCY10/NM_018417.5/1;CC=c.701C>T;ProtCh=p.T234M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:44:36:0:0:25,1,18:849,10,562:84.17,0.02,0.00:50.82,-0.12,0.00:33.34,0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.6,10.0,3.9:0,0,0:0,0,0:61,86,52:73,63,84:29,0,26:NM_018417.4(ADCY10) c.701C>T (p.Thr234Met),-:0.08,-:0.104952,- 1 167865930 . C . . NT END=167868660;NT GT ./. 1 167868867 . C . . NT END=167870899;NT GT ./. 1 167871081 . C . . NT END=167871253;NT GT ./. 1 167871293 . C . . NT END=167873124;NT GT ./. 1 167871297 . GA G 32 idl,rn VT=DEL;SST=Single;DP=53;NP=42;Gene=ADCY10/NM_001167749.2/0;CC=c.-62-6delT;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.-60-6delT;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.254-6delT;VC=Intron;DM=ADCY10/Guanylate_cyc;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:51:37:4:19:35,4,12:1117,124,447:0.00,8.63,32.09:0.00,6.99,15.50:0.00,1.65,16.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.3,5.0,21.5:0,0,2:0,0,0:113,78,84:34,65,64:31,5,12:-,NM_018417.4(ADCY10) c.254-6delT:-,NOT_FOUND:-,NOT_FOUND 1 167871565 rs203774 A C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=631;Gene=ADCY10/NM_001167749.2/0;CC=c.-62-273T>G;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.-60-273T>G;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.254-273T>G;VC=Intron;DM=ADCY10/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:206:23.46:0.00:23.46:1.00:0.00:1.00:60:36.0:0:0:132:17:11:NM_018417.4(ADCY10) c.254-273T>G,NM_018417.4(ADCY10) c.254-273T>G:1,1:NOT_FOUND,NOT_FOUND 1 167873230 . C . . NT END=167874230;NT GT ./. 1 167873320 . CT C 16 idl,rn VT=DEL;SST=Single;DP=33;PC=0.019;Gene=ADCY10/NM_001167749.2/0;CC=c.-62-2029delA;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.-165-92delA;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.149-92delA;VC=Intron;DM=ADCY10/Guanylate_cyc;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:CT,T,I,C:26:2:2:14:16,2,2,6:491,34,59,386:0.00,1.65,3.99,15.83:0.00,-0.03,-0.03,1.13:0.00,1.67,4.02,14.70:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.44:0.00,0.00,0.00,0.99:60,60,60,60:11.1,116.0,37.0,55.2:0,1,0,7:0,0,0,0:143,81,40,67:8,60,110,72:7,33,26,33:-,NM_018417.4(ADCY10) c.149-92delA:-,NOT_FOUND:-,NOT_FOUND 1 167873474 rs150597113 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9974,T/0.002596;NP=1;Gene=ADCY10/NM_001167749.2/0;CC=c.-62-2182G>A;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.-165-245G>A;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.149-245G>A;VC=Intron;DM=ADCY10/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:4:0:0:0:2,2:58,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,51.0:0,0:0,0:127,41:23,109:10,29:-,NM_018417.4(ADCY10) c.149-245G>A:-,0.0041:-,NOT_FOUND 1 167874002 rs7545974 G C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9123,C/0.08766;PC=0.008;Gene=ADCY10/NM_001167749.2/0;CC=c.-62-2710C>G;VC=Intron;Gene=ADCY10/NM_001297772.1/0;CC=c.-166+229C>G;VC=Intron;Gene=ADCY10/NM_018417.5/1;CC=c.148+229C>G;VC=Intron;DM=ADCY10/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:C,G:8:8:0:0:4,4:135,130:13.00,0.00:13.00,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:33.8,0.0:0,0:0,0:31,31:119,120:28,24:NM_018417.4(ADCY10) c.148+229C>G,-:0.09,-:NOT_FOUND,- 1 167874379 . G . . NT END=167887560;NT GT ./. 1 167887416 rs1050037 C T 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8512,T/0.1488;PC=1.000;Gene=MPC2/NR_026550.2/0;VC=NonCoding;Gene=MPC2/NM_001143674.3/1;CC=c.*145G>A;VC=3UTR;Gene=MPC2/NM_015415.3/0;CC=c.*145G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:7:7:0:0:2,5:71,111:0.00,11.57:0.00,11.57:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,90.0:0,0:0,0:31,53:120,90:18,25:-,NM_001143674.2(MPC2) c.*145G>A:-,0.14:-,NOT_FOUND 1 167887436 rs1050036 A C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.8842,C/0.1158;PC=0.034;Gene=MPC2/NR_026550.2/0;VC=NonCoding;Gene=MPC2/NM_001143674.3/1;CC=c.*125T>G;VC=3UTR;Gene=MPC2/NM_015415.3/0;CC=c.*125T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,C,G:10:10:0:0:4,5,1:129,159,9:0.00,15.57,0.29:0.00,15.57,0.29:0.00,0.00,0.00:0.00,0.95,0.00:0.00,0.95,0.00:0.00,0.00,0.00:60,60,60:3.5,72.4,122.0:0,0,0:0,0,0:23,72,73:127,79,70:12,30,0:-,NM_001143674.2(MPC2) c.*125T>G:-,0.1:-,NOT_FOUND 1 167887598 . C . . NT END=167889216;NT GT ./. 1 167887642 rs10918798 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8842,T/0.1158;Gene=MPC2/NR_026550.2/0;VC=NonCoding;Gene=MPC2/NM_001143674.3/1;CC=c.348-45G>A;VC=Intron;Gene=MPC2/NM_015415.3/0;CC=c.348-45G>A;VC=Intron;DM=MPC2/MPC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:17:11:0:0:11,6:390,196:0.00,17.67:0.00,7.61:0.00,10.06:0.00,0.95:0.00,0.98:0.00,0.99:60,60:0.8,32.7:0,0:0,0:103,104:47,38:16,36:-,NM_001143674.2(MPC2) c.348-45G>A:-,0.1:-,0.136476 1 167889094 rs17556487 T A 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8287,A/0.1713;PC=0.563;Gene=MPC2/NR_026550.2/0;VC=NonCoding;Gene=MPC2/NM_001143674.3/1;CC=c.347+123A>T;VC=Intron;Gene=MPC2/NM_015415.3/0;CC=c.347+123A>T;VC=Intron;DM=MPC2/MPC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,T:17:17:0:0:6,11:190,358:17.07,0.00:17.07,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:37.2,25.8:0,0:0,0:85,55:65,94:18,36:NM_001143674.2(MPC2) c.347+123A>T,-:0.18,-:NOT_FOUND,- 1 167889329 . C . . NT END=167889784;NT GT ./. 1 167889870 . C . . NT END=167893734;NT GT ./. 1 167893759 rs9618 G A 114 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.5935,A/0.4065;PC=1.000;Gene=MPC2/NR_026550.2/0;VC=NonCoding;Gene=MPC2/NM_001143674.3/1;CC=c.126C>T;ProtCh=p.F42=;VC=Silent;Gene=MPC2/NM_015415.3/0;CC=c.126C>T;ProtCh=p.F42=;VC=Silent;DM=MPC2/MPC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:A,G:32:25:0:0:31,1:1011,35:113.95,0.00:67.21,0.00:46.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,11.0:0,0:0,0:61,28:85,123:28,0:NM_001143674.2(MPC2) c.126C>T (p.(=)),NM_001143674.2(MPC2) c.126C>T (p.(=)):0.39,0.39:0.422063,0.422063 1 167893776 . C . . NT END=167904970;NT GT ./. 1 167905080 . C . . NT END=167906149;NT GT ./. 1 167905987 rs11558510 A G 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.8778,G/0.1222;PC=0.020;Gene=MPC2/NM_001143674.3/1;CC=c.-58+190T>C;VC=Intron;Gene=MPC2/NM_015415.3/0;CC=c.-58+256T>C;VC=Intron;Gene=DCAF6/NM_001017977.2/0;CC=c.-163A>G;VC=5UTR;Gene=DCAF6/NM_001198956.1/1;CC=c.-163A>G;VC=5UTR;Gene=DCAF6/NM_001198957.1/0;CC=c.-163A>G;VC=5UTR;Gene=DCAF6/NM_018442.3/0;CC=c.-163A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,G:16:16:0:0:6,10:183,281:0.00,28.15:0.00,28.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.8,61.7:0,0:0,0:32,46:119,105:20,16:-,NM_001198956.1(DCAF6) c.-163A>G:-,0.11:-,NOT_FOUND 1 167906239 rs203788 A C 223 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=3101;PC=1.000;Gene=MPC2/NM_001143674.3/1;CC=c.-120T>G;VC=5UTR;Gene=MPC2/NM_015415.3/0;CC=c.-58+4T>G;VC=Intron;Gene=DCAF6/NM_001017977.2/0;CC=c.90A>C;ProtCh=p.R30=;VC=Silent;Gene=DCAF6/NM_001198956.1/1;CC=c.90A>C;ProtCh=p.R30=;VC=Silent;Gene=DCAF6/NM_001198957.1/0;CC=c.90A>C;ProtCh=p.R30=;VC=Silent;Gene=DCAF6/NM_018442.3/0;CC=c.90A>C;ProtCh=p.R30=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:C:59:35:0:0:59:1947:222.73:89.12:133.60:1.00:1.00:1.00:60:43.5:0:0:100:38:25:NM_001198956.1(DCAF6) c.=,NM_001198956.1(DCAF6) c.=:1,1:NOT_FOUND,NOT_FOUND 1 167906247 . G . . NT END=167921037;NT GT ./. 1 167921100 . G . . NT END=167935866;NT GT ./. 1 167921190 rs73024140 G T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9223,T/0.07768;Gene=DCAF6/NM_001017977.2/0;CC=c.159+91G>T;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.159+91G>T;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.159+91G>T;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.159+91G>T;VC=Intron;DM=DCAF6/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:G,T:11:2:0:0:7,4:234,131:0.00,11.88:0.00,-0.29:0.00,12.17:0.00,0.82:0.00,0.66:0.00,0.98:60,60:1.6,35.5:0,0:0,0:133,95:18,55:7,22:-,NM_001198956.1(DCAF6) c.159+91G>T:-,0.09:-,NOT_FOUND 1 167935960 . G . . NT END=167944067;NT GT ./. 1 167944254 . G . . NT END=167956732;NT GT ./. 1 167954363 rs12407660 C T 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8279,T/0.1721;PC=0.011;Gene=DCAF6/NM_001017977.2/0;CC=c.439-2370C>T;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.439-2370C>T;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.346-2370C>T;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.439-2370C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:5:4:0:0:2,3:65,106:0.00,10.57:0.00,7.31:0.00,3.26:0.00,0.78:0.00,0.97:0.00,0.94:60,60:21.5,47.0:0,0:0,0:69,55:77,87:65,46:-,NM_001198956.1(DCAF6) c.439-2370C>T:-,0.18:-,NOT_FOUND 1 167954449 rs530935220 G GGT 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=40;NP=5;PC=0.006;Gene=DCAF6/NM_001017977.2/0;CC=c.439-2269_439-2268insTG;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.439-2269_439-2268insTG;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.346-2269_346-2268insTG;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.439-2269_439-2268insTG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:G,GGT:7:4:3:0:4,3:115,99:0.00,9.26:0.00,2.97:0.00,6.28:0.00,0.69:0.00,0.89:0.00,0.93:60,60:40.0,33.3:0,0:0,0:59,90:90,52:40,18:-,NM_001198956.1(DCAF6) c.439-2284_439-2283insGT:-,NOT_FOUND:-,NOT_FOUND 1 167956847 . G . . NT END=167960441;NT GT ./. 1 167960578 . G . . NT END=167962463;NT GT ./. 1 167962679 . G . . NT END=167971719;NT GT ./. 1 167971814 . G . . NT END=167973107;NT GT ./. 1 167971979 rs436256 G T 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3193,T/0.6807;Gene=DCAF6/NM_001017977.2/0;CC=c.997+166G>T;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.997+166G>T;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.904+166G>T;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.997+166G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:191:21.96:0.00:21.96:1.00:0.00:1.00:60:67.0:0:0:134:16:10:NM_001198956.1(DCAF6) c.997+166G>T,NM_001198956.1(DCAF6) c.997+166G>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 167971980 rs428694 C G 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3185,G/0.6815;PC=0.001;Gene=DCAF6/NM_001017977.2/0;CC=c.997+167C>G;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.997+167C>G;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.904+167C>G;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.997+167C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:167:19.08:0.00:19.08:1.00:0.00:1.00:60:74.6:0:0:131:20:9:NM_001198956.1(DCAF6) c.997+167C>G,NM_001198956.1(DCAF6) c.997+167C>G:0.62,0.62:NOT_FOUND,NOT_FOUND 1 167973228 . G . . NT END=167973770;NT GT ./. 1 167973648 rs60142550 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9393,C/0.0607;Gene=DCAF6/NM_001017977.2/0;CC=c.1118-123T>C;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.1118-123T>C;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.1025-123T>C;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.1118-123T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:7,11:237,359:21.82,0.00:19.98,0.00:1.83,0.00:0.98,0.00:0.98,0.00:0.59,0.00:60,60:33.9,4.3:0,0:0,0:26,56:125,95:17,23:NM_001198956.1(DCAF6) c.1118-123T>C,-:0.07,-:NOT_FOUND,- 1 167973976 rs1060041 C T 130 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.8321,T/0.1679;PC=0.990;Gene=DCAF6/NM_001017977.2/0;CC=c.1323C>T;ProtCh=p.D441=;VC=Silent;Gene=DCAF6/NM_001198956.1/1;CC=c.1323C>T;ProtCh=p.D441=;VC=Silent;Gene=DCAF6/NM_001198957.1/0;CC=c.1230C>T;ProtCh=p.D410=;VC=Silent;Gene=DCAF6/NM_018442.3/0;CC=c.1323C>T;ProtCh=p.D441=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:49:0:0:40,41:1388,1348:0.00,129.98:0.00,47.48:0.00,82.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,37.1:0,0:0,0:79,64:71,84:34,39:-,NM_001198956.1(DCAF6) c.1323C>T (p.(=)):-,0.18:-,0.187404 1 167974032 . G . . NT END=167985018;NT GT ./. 1 167978090 rs113187924 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9063,T/0.09365;PC=0.001;Gene=DCAF6/NM_001017977.2/0;CC=c.1378+4059C>T;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.1378+4059C>T;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.1285+4059C>T;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.1378+4059C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,T:5:1:0:0:2,3:60,104:0.00,10.37:0.00,1.93:0.00,8.44:0.00,0.78:0.00,0.73:0.00,0.78:60,60:0.0,34.7:0,0:0,0:118,111:32,39:4,0:-,NM_001198956.1(DCAF6) c.1378+4059C>T:-,0.12:-,NOT_FOUND 1 167984917 rs73026177 G A 51 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.9393,A/0.0607;Gene=DCAF6/NM_001017977.2/0;CC=c.1378+10886G>A;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.1379-102G>A;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.1286-102G>A;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.1379-7309G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:37:0:0:20,18:530,533:51.01,0.00:51.66,0.00:-0.65,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:62.7,23.3:0,0:0,0:37,65:113,86:27,31:NM_001198956.1(DCAF6) c.1379-102G>A,-:0.07,-:NOT_FOUND,- 1 167985190 . G . . NT END=167992225;NT GT ./. 1 167985326 rs397840690 TG T 60 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TG/0.5713,T/0.4287;DB;DBA=NA;PAF=TG/0.5713,T/0.4287;NP=78;PC=0.501;Gene=DCAF6/NM_001017977.2/0;CC=c.1378+11298delG;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.1549+140delG;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.1456+140delG;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.1379-6897delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:TG,T:18:0:0:17:1,17:32,534:0.00,59.83:0.00,0.00:0.00,59.83:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,7.5:0,0:0,0:150,97:1,54:0,34:NM_001198956.1(DCAF6) c.1549+138delG,NM_001198956.1(DCAF6) c.1549+138delG:0.42,0.42:NOT_FOUND,NOT_FOUND 1 167992286 . G . . NT END=168007608;NT GT ./. 1 167992344 rs201541 T A 111 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5665,A/0.4335;PC=0.069;Gene=DCAF6/NM_001017977.2/0;CC=c.1379-15265T>A;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.1609+59T>A;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.1516+59T>A;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.1438+59T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A:30:9:0:0:30:968:111.10:21.12:89.98:1.00:1.00:1.00:60:37.3:0:0:105:44:22:NM_001198956.1(DCAF6) c.1609+59T>A,NM_001198956.1(DCAF6) c.1609+59T>A:0.42,0.42:0.459921,0.459921 1 168007727 . G . . NT END=168012262;NT GT ./. 1 168012379 . G . . NT END=168013822;NT GT ./. 1 168013910 . G . . NT END=168014137;NT GT ./. 1 168014466 . G . . NT END=168020129;NT GT ./. 1 168020172 . G . . NT END=168032858;NT GT ./. 1 168024947 rs3961453 C T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=89;PC=0.247;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7912C>T;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+4776C>T;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+4776C>T;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7912C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:6:6:0:0:3,3:89,86:0.00,8.22:0.00,8.22:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:40,39:2.3,122.3:0,0:0,0:136,21:14,129:8,13:-,NM_001198956.1(DCAF6) c.2300+4776C>T:-,NOT_FOUND:-,NOT_FOUND 1 168024984 rs35042830 AG A 18 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=250;PC=0.166;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7872delG;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+4816delG;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+4816delG;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7872delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:AG,A:6:6:0:5:1,5:25,163:0.00,17.51:0.00,17.51:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:39,40:184.0,66.2:1,0:0,0:44,58:107,92:0,44:-,NM_001198956.1(DCAF6) c.2300+4814delG:-,NOT_FOUND:-,NOT_FOUND 1 168024989 rs61807037 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.012;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7870A>G;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+4818A>G;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+4818A>G;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7870A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:8:8:0:0:2,6:69,178:0.00,18.71:0.00,18.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:11.5,123.7:2,3:0,0:71,44:78,106:53,30:-,NM_001198956.1(DCAF6) c.2300+4818A>G:-,NOT_FOUND:-,NOT_FOUND 1 168025018 rs35286371 GT G 27 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=716;PC=0.061;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7832delT;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+4856delT;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+4856delT;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7832delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:8:8:233:27.11:27.11:0.00:1.00:1.00:0.00:40:103.2:0:0:38:112:24:NM_001198956.1(DCAF6) c.2300+4848delT,NM_001198956.1(DCAF6) c.2300+4848delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168025027 rs370288838 T C 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=377;PC=0.003;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7832T>C;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+4856T>C;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+4856T>C;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7832T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T:10:10:0:0:7,3:232,93:23.89,0.00:23.89,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:118.1,36.7:0,0:0,0:38,26:113,124:38,20:NM_001198956.1(DCAF6) c.2300+4856T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 168025042 rs3977718 C T 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2107;PC=0.012;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7817C>T;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+4871C>T;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+4871C>T;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7817C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:12:0:0:12:328:38.42:38.42:0.00:1.00:1.00:0.00:40:83.6:0:0:46:104:28:NM_001198956.1(DCAF6) c.2300+4871C>T,NM_001198956.1(DCAF6) c.2300+4871C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168025245 rs3977719 T C 169 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=1.000;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7614T>C;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5074T>C;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5074T>C;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7614T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:C:44:31:0:0:44:1484:169.38:92.85:76.54:1.00:1.00:1.00:60:69.7:0:0:88:61:37:NM_001198956.1(DCAF6) c.2300+5074T>C,NM_001198956.1(DCAF6) c.2300+5074T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168025262 rs3977720 A G 138 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.336;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7597A>G;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5091A>G;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5091A>G;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7597A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G,T:41:31:0:0:40,1:1191,12:137.61,0.31:76.39,0.31:61.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,53:70.8,192.0:0,0:0,0:74,117:76,34:39,0:NM_001198956.1(DCAF6) c.2300+5091A>G,NM_001198956.1(DCAF6) c.2300+5091A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168025400 rs3977721 G C 210 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.995;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7459G>C;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5229G>C;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5229G>C;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7459G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C:54:39:0:0:54:1846:210.31:120.13:90.19:1.00:1.00:1.00:60:77.4:0:0:63:84:32:NM_001198956.1(DCAF6) c.2300+5229G>C,NM_001198956.1(DCAF6) c.2300+5229G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168025409 rs3977722 A G 228 nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.996;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7450A>G;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5238A>G;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5238A>G;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7450A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:G:61:45:0:0:61:1994:228.42:132.92:95.50:1.00:1.00:1.00:60:76.0:0:0:52:90:38:NM_001198956.1(DCAF6) c.2300+5238A>G,NM_001198956.1(DCAF6) c.2300+5238A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168025538 rs3977723 T C 421 nt VT=SNV;PN=G;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=T/0.3812,C/0.6188;PC=0.166;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7321T>C;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5367T>C;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5367T>C;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7321T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:112:90:0:0:1,109,1,1:10,3717,8,33:0.09,420.78,0.05,0.00:0.09,259.70,0.05,0.00:-0.00,161.08,-0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:9,60,59,60:70.0,67.5,121.0,0.0:0,0,0,0:0,0,0,0:27,81,91,116:113,64,38,35:0,25,0,0:NM_001198956.1(DCAF6) c.2300+5367T>C,NM_001198956.1(DCAF6) c.2300+5367T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 168025577 rs7535741 C T 117 nt VT=SNV;PN=T;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=NA;PC=0.073;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7282C>T;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5406C>T;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5406C>T;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7282C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:97:66:0:0:57,40:1656,1266:0.00,117.11:0.00,48.48:0.00,68.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.3,88.1:0,0:0,0:98,96:42,50:28,24:-,NM_001198956.1(DCAF6) c.2300+5406C>T:-,0.16:-,NOT_FOUND 1 168025628 rs7535915 G A 240 nt VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=1085;PC=0.004;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7231G>A;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5457G>A;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5457G>A;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7231G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:A,C:64:26:0:0:63,1:2101,5:239.63,0.04:52.89,0.00:186.74,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,40:87.4,159.0:0,0:0,0:71,98:80,53:37,0:NM_001198956.1(DCAF6) c.2300+5457G>A,NM_001198956.1(DCAF6) c.2300+5457G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168025664 rs7535844 C A 189 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=484;PC=0.984;Gene=DCAF6/NM_001017977.2/0;CC=c.2028-7195C>A;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2300+5493C>A;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2207+5493C>A;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2088-7195C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:8:0:0:50:1653:189.03:15.76:173.28:1.00:1.00:1.00:40:83.9:0:0:93:56:22:NM_001198956.1(DCAF6) c.2300+5493C>A,NM_001198956.1(DCAF6) c.2300+5493C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168032998 . G . . NT END=168034827;NT GT ./. 1 168034985 . G . . NT END=168035614;NT GT ./. 1 168035104 rs380095 G C 63 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.09884,C/0.9012;Gene=DCAF6/NM_001017977.2/0;CC=c.2323+120G>C;VC=Intron;Gene=DCAF6/NM_001198956.1/1;CC=c.2596+120G>C;VC=Intron;Gene=DCAF6/NM_001198957.1/0;CC=c.2503+120G>C;VC=Intron;Gene=DCAF6/NM_018442.3/0;CC=c.2383+120G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:0:0:0:18:549:63.47:0.00:63.47:1.00:0.00:1.00:60:40.9:0:0:84:67:30:NM_001198956.1(DCAF6) c.2596+120G>C,NM_001198956.1(DCAF6) c.2596+120G>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 168035704 . G . . NT END=168037595;NT GT ./. 1 168037702 . G . . NT END=168044608;NT GT ./. 1 168044674 . T . . NT END=168054768;NT GT ./. 1 168055035 . C . . NT END=168056822;NT GT ./. 1 168056724 rs275143 A G 168 nt VT=SNV;PN=G;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.5615,G/0.4385;PC=0.005;Gene=GPR161/NM_001267612.1/0;CC=c.928+99T>C;VC=Intron;Gene=GPR161/NM_001267613.1/0;CC=c.1090+99T>C;VC=Intron;Gene=GPR161/NM_153832.2/1;CC=c.1324+99T>C;VC=Intron;Gene=GPR161/NM_001267611.1/0;CC=c.1375+99T>C;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.982+99T>C;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.1384+99T>C;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.1324+99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:G:46:42:0:0:46:1461:168.02:139.94:28.08:1.00:1.00:1.00:60:41.2:0:0:40:108:17:NM_001267609.1(GPR161) c.1384+99T>C,NM_001267609.1(GPR161) c.1384+99T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 1 168056943 . C . . NT END=168059801;NT GT ./. 1 168057030 rs11351983 CT C 81 nt VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=CT/0.8297,C/0.1703;NP=524;Gene=GPR161/NM_001267612.1/0;CC=c.809-89delA;VC=Intron;Gene=GPR161/NM_001267613.1/0;CC=c.971-89delA;VC=Intron;Gene=GPR161/NM_153832.2/1;CC=c.1205-89delA;VC=Intron;Gene=GPR161/NM_001267611.1/0;CC=c.1256-89delA;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.863-89delA;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.1265-89delA;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.1205-89delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,C:56:24:0:27:1,28,27:21,931,847:0.67,0.00,81.04:-0.09,0.00,14.94:0.76,0.00,66.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:77.0,11.1,8.1:0,0,0:0,0,0:31,103,107:118,43,41:0,18,21:-,NM_001267609.1(GPR161) c.1265-89delA:-,0.16:-,NOT_FOUND 1 168059866 rs275149 A G 277 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=NA;Gene=GPR161/NM_001267612.1/0;CC=c.744T>C;ProtCh=p.G248=;VC=Silent;Gene=GPR161/NM_001267613.1/0;CC=c.906T>C;ProtCh=p.G302=;VC=Silent;Gene=GPR161/NM_153832.2/1;CC=c.1140T>C;ProtCh=p.G380=;VC=Silent;Gene=GPR161/NM_001267611.1/0;CC=c.1191T>C;ProtCh=p.G397=;VC=Silent;Gene=GPR161/NM_001267614.1/0;CC=c.798T>C;ProtCh=p.G266=;VC=Silent;Gene=GPR161/NM_001267609.1/0;CC=c.1200T>C;ProtCh=p.G400=;VC=Silent;Gene=GPR161/NM_001267610.1/0;CC=c.1140T>C;ProtCh=p.G380=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:73:52:0:0:73:2420:276.77:132.13:144.64:1.00:1.00:1.00:60:39.5:0:0:76:70:20:NM_001267609.1(GPR161) c.1200T>C (p.(=)),NM_001267609.1(GPR161) c.1200T>C (p.(=)):0.41,0.41:0.431647,0.431647 1 168059907 . C . . NT END=168065745;NT GT ./. 1 168066471 . C . . NT END=168073714;NT GT ./. 1 168066659 rs7515429 A G 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7065,G/0.2935;Gene=GPR161/NM_001267612.1/0;CC=c.-22-189T>C;VC=Intron;Gene=GPR161/NM_001267613.1/0;CC=c.141-189T>C;VC=Intron;Gene=GPR161/NM_153832.2/1;CC=c.375-189T>C;VC=Intron;Gene=GPR161/NM_001267611.1/0;CC=c.426-189T>C;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.33-189T>C;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.435-189T>C;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.375-189T>C;VC=Intron;DM=GPR161/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:501:57.70:0.00:57.70:1.00:0.00:1.00:60:41.9:0:0:111:39:15:NM_001267609.1(GPR161) c.435-189T>C,NM_001267609.1(GPR161) c.435-189T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 1 168073601 rs2294817 C A 95 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7123,A/0.2877;PC=0.003;Gene=GPR161/NM_001267612.1/0;CC=c.-22-7131G>T;VC=Intron;Gene=GPR161/NM_001267613.1/0;CC=c.141-7131G>T;VC=Intron;Gene=GPR161/NM_153832.2/1;CC=c.374+114G>T;VC=Intron;Gene=GPR161/NM_001267611.1/0;CC=c.425+114G>T;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.33-7131G>T;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.434+114G>T;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.374+114G>T;VC=Intron;DM=GPR161/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:27:0:0:27:819:94.73:94.73:0.00:1.00:1.00:0.00:60:33.1:0:0:45:106:33:NM_001267609.1(GPR161) c.434+114G>T,NM_001267609.1(GPR161) c.434+114G>T:0.31,0.31:NOT_FOUND,NOT_FOUND 1 168074133 . C . . NT END=168103113;NT GT ./. 1 168074145 rs6427119 G A 226 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.7131,A/0.2869,C/.;PC=0.008;Gene=GPR161/NM_001267612.1/0;CC=c.-22-7675C>T;VC=Intron;Gene=GPR161/NM_001267613.1/0;CC=c.141-7675C>T;VC=Intron;Gene=GPR161/NM_153832.2/1;CC=c.-44-13C>T;VC=Intron;Gene=GPR161/NM_001267611.1/0;CC=c.8-13C>T;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.33-7675C>T;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.17-13C>T;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.-44-13C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:A,G:62:22:0:0:61,1:1991,32:225.89,0.00:53.88,0.00:172.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.0,12.0:0,0:0,0:101,106:50,45:27,0:NM_001267609.1(GPR161) c.17-13C>T,NM_001267609.1(GPR161) c.17-13C>T:0.31,0.31:NOT_FOUND,NOT_FOUND 1 168102990 rs79211340 T A 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9667,A/0.03335;PC=0.008;Gene=GPR161/NM_001267612.1/0;CC=c.-23+1154A>T;VC=Intron;Gene=GPR161/NM_001267613.1/0;CC=c.140+2505A>T;VC=Intron;Gene=GPR161/NM_153832.2/1;CC=c.-139+124A>T;VC=Intron;Gene=GPR161/NM_001267611.1/0;CC=c.7+3638A>T;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.32+3638A>T;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.16+1154A>T;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.-139+3413A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,T:11:11:0:0:6,5:200,158:19.57,0.00:19.57,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:33.3,3.4:0,0:0,0:73,76:77,75:37,52:NM_001267609.1(GPR161) c.16+1154A>T,-:0.05,-:NOT_FOUND,- 1 168103160 . C . . NT END=168104143;NT GT ./. 1 168104275 . C . . NT END=168105247;NT GT ./. 1 168105496 rs73030230 T A 313 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=211;DB;DBA=NA;PAF=T/0.9563,A/0.04373;PC=0.992;Gene=GPR161/NM_001267612.1/0;CC=c.-402A>T;VC=5UTR;Gene=GPR161/NM_001267613.1/0;CC=c.139A>T;ProtCh=p.S47C;VC=Missense;Gene=GPR161/NM_153832.2/1;CC=c.-186A>T;VC=5UTR;Gene=GPR161/NM_001267611.1/0;CC=c.7+1132A>T;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.32+1132A>T;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.-116+907A>T;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.-139+907A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:211:135:0:0:100,111:3288,3629:313.03,0.00:149.93,0.00:163.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,11.4:0,0:0,0:70,75:80,72:36,35:NM_001267609.1(GPR161) c.-116+907A>T,-:0.06,-:NOT_FOUND,- 1 168105946 . c . . NT END=168105976;NT GT ./. 1 168106000 rs111778137 T G 346 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=270;DB;DBA=NA;PAF=T/0.9681,G/0.03195;NP=15;PC=0.014;Gene=GPR161/NM_001267611.1/0;CC=c.7+628A>C;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.32+628A>C;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.-116+403A>C;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.-139+403A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:270:156:0:0:2,2,118,148:20,19,3689,4606:-0.30,-0.32,345.76,0.00:-0.19,-0.05,142.27,0.00:-0.12,-0.27,203.50,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:64.5,50.0,45.0,17.0:0,0,0,0:0,0,0,0:47,90,84,95:97,61,59,54:47,37,37,32:NM_001267609.1(GPR161) c.-116+403A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 168106142 . G . . NT END=168106402;NT GT ./. 1 168106196 . G C 10 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=70;NP=1;Gene=GPR161/NM_001267611.1/0;CC=c.7+432C>G;VC=Intron;Gene=GPR161/NM_001267614.1/0;CC=c.32+432C>G;VC=Intron;Gene=GPR161/NM_001267609.1/0;CC=c.-116+207C>G;VC=Intron;Gene=GPR161/NM_001267610.1/0;CC=c.-139+207C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:C,G,I:70:14:1:0:7,62,1:163,1835,23:10.00,0.00,0.59:12.17,0.00,0.46:-2.17,0.00,0.13:0.89,0.00,0.00:0.68,0.00,0.00:0.99,0.00,0.00:60,60,60:67.9,25.0,147.0:0,0,0:0,0,0:124,102,66:9,42,85:8,27,0:NM_001267609.1(GPR161) c.-116+207C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 168106660 . c . . NT END=168148315;NT GT ./. 1 168106716 rs6664903 T C 95 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.1484,C/0.8516;PC=0.001;Gene=GPR161/NM_001267611.1/0;CC=c.-82A>G;VC=5UTR;Gene=GPR161/NM_001267614.1/0;CC=c.-57A>G;VC=5UTR;Gene=GPR161/NM_001267609.1/0;CC=c.-429A>G;VC=5UTR;Gene=GPR161/NM_001267610.1/0;CC=c.-452A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:19:0:0:32,27:976,821:95.12,0.00:17.88,0.00:77.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,6.6:0,0:0,0:124,98:27,52:14,28:NM_001267609.1(GPR161) c.-429A>G,-:0.86,-:NOT_FOUND,- 1 168148420 . G . . NT END=168153139;NT GT ./. 1 168153320 . G . . NT END=168154016;NT GT ./. 1 168154117 . G . . NT END=168160606;NT GT ./. 1 168160739 . G . . NT END=168161445;NT GT ./. 1 168160781 rs2023424 C T 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9381,T/0.0619;Gene=TIPRL/NM_001031800.2/0;CC=c.516+43C>T;VC=Intron;Gene=TIPRL/NM_152902.4/1;CC=c.516+43C>T;VC=Intron;DM=TIPRL/TIP41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:17:0:0:25,19:808,629:0.00,58.92:0.00,14.06:0.00,44.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,36.2:0,0:0,0:105,90:46,55:21,35:-,NM_152902.3(TIPRL) c.516+43C>T:-,0.07:-,0.0755 1 168161591 rs11455456 C CA 43 idl,rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=12;PC=0.001;Gene=TIPRL/NM_001031800.2/0;CC=c.*137_*138insA;VC=3UTR;Gene=TIPRL/NM_152902.4/1;CC=c.516+865_516+866insA;VC=Intron;DM=TIPRL/TIP41;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:41:33:22:1:3,21,16,1:74,694,649,32:4.86,0.00,42.85,1.81:2.10,0.00,25.59,1.88:2.76,0.00,17.26,-0.07:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:47.0,9.3,27.2,0.0:1,0,6,0:0,0,0,0:31,89,51,20:119,46,99,131:11,50,41,0:-,NM_152902.3(TIPRL) c.516+853_516+854insA:-,NOT_FOUND:-,NOT_FOUND 1 168161634 . C . . NT END=168165784;NT GT ./. 1 168165767 rs59876096 CT C 66 idl,rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=224;PC=0.020;Gene=TIPRL/NM_152902.4/1;CC=c.517-5delT;VC=Intron;DM=TIPRL/TIP41;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:38:36:4:24:15,2,21:443,124,767:0.00,4.38,66.13:0.00,3.32,40.08:0.00,1.06,26.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:27.5,54.5,26.3:0,2,3:0,0,0:48,76,35:100,64,98:26,8,19:-,NM_152902.3(TIPRL) c.517-17delT:-,NOT_FOUND:-,NOT_FOUND 1 168165881 . G . . NT END=168168156;NT GT ./. 1 168165888 rs16860183 T G 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.9373,G/0.0627;PC=0.002;Gene=TIPRL/NM_152902.4/1;CC=c.612+8T>G;VC=Intron;DM=TIPRL/TIP41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:42:18:0:0:23,19:777,581:76.14,0.00:23.75,0.00:52.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,18.4:0,0:0,0:105,88:45,63:19,20:NM_152902.3(TIPRL) c.612+8T>G,-:0.08,-:0.088267,- 1 168168220 . G . . NT END=168169140;NT GT ./. 1 168169285 . A . . NT END=168195317;NT GT ./. 1 168169452 rs2072776 G A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.4617,A/0.5383;PC=0.002;Gene=TIPRL/NM_152902.4/1;CC=c.*168G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:17:0:0:0:6,11:198,372:17.87,0.00:0.00,0.00:17.87,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:39.7,5.0:0,0:0,0:124,99:27,51:12,23:NM_152902.3(TIPRL) c.*168G>A,-:0.53,-:NOT_FOUND,- 1 168194927 rs4656572 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4069,T/0.5931;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,94:0.00,9.85:0.00,9.85:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,31.3:0,0:0,0:27,17:124,134:0,15:-,NM_199344.2(SFT2D2) c.-63-u328C>T:-,0.62:-,NOT_FOUND 1 168195381 . G . . NT END=168200751;NT GT ./. 1 168200733 rs11588504 T C 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.5647,C/0.4353;Gene=SFT2D2/NM_199344.2/1;CC=c.64-19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:45:33:0:0:1,19,25:9,604,789:-0.08,56.40,0.00:-0.11,43.00,0.00:0.03,13.40,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:147.0,46.3,12.6:0,0,6:0,0,0:48,47,47:76,103,102:0,30,25:NM_199344.2(SFT2D2) c.64-19T>C,-:0.51,-:0.523912,- 1 168200839 . G . . NT END=168201071;NT GT ./. 1 168201158 . G . . NT END=168204338;NT GT ./. 1 168204421 . G . . NT END=168205826;NT GT ./. 1 168205863 . G . . NT END=168205949;NT GT ./. 1 168206009 . G . . NT END=168208368;NT GT ./. 1 168206118 rs55947108 GTTTAA G 14 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=GTTTAA/0.5461,G/0.4539;NP=2576;Gene=SFT2D2/NM_199344.2/1;CC=c.413+116_413+120delTTTAA;VC=Intron;DM=SFT2D2/Got1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:GTTTAA,G:17:0:0:5:12,5:331,159:0.00,13.83:0.00,0.00:0.00,13.83:0.00,0.88:0.00,0.00:0.00,0.88:60,60:11.2,4.6:0,0:0,0:99,82:50,69:24,39:-,NM_199344.2(SFT2D2) c.413+111_413+115delTTTAA:-,0.5:-,NOT_FOUND 1 168208308 rs12142742 T C 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4659,C/0.5341;Gene=SFT2D2/NM_199344.2/1;CC=c.414-61T>C;VC=Intron;DM=SFT2D2/Got1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:16:0:0:12,7:339,228:34.14,0.00:18.38,0.00:15.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,14.6:0,0:0,0:50,67:99,84:33,12:NM_199344.2(SFT2D2) c.414-61T>C,-:0.57,-:0.624836,- 1 168208399 . G . . NT END=168211738;NT GT ./. 1 168211779 . T . . NT END=168250328;NT GT ./. 1 168215575 rs2205697 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5421,A/0.4579;PC=1.000;Gene=ANKRD36BP1/NR_026844.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,G,T:13:12:0:0:4,8,1:125,260,10:11.08,0.00,0.20:9.56,0.00,0.23:1.52,0.00,-0.03:0.79,0.00,0.00:0.97,0.00,0.00:0.60,0.00,0.00:60,60,60:48.2,23.2,69.0:0,0,0:0,0,0:55,41,127:95,110,23:19,30,0:NR_026844.1(ANKRD36BP1) n.1094C>T,-:0.51,-:NOT_FOUND,- 1 168250532 . G . . NT END=168260397;NT GT ./. 1 168260663 . G . . NT END=168262381;NT GT ./. 1 168262289 rs7543224 A G 159 nt VT=SNV;PN=T;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.4193,G/0.5807;PC=0.001;Gene=TBX19/NM_005149.2/1;CC=c.469-93A>G;VC=Intron;DM=TBX19/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:92:78:0:0:43,49:1331,1632:0.00,158.99:0.00,115.71:0.00,43.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,68.7:0,0:0,0:43,41:108,107:23,23:-,NM_005149.2(TBX19) c.469-93A>G:-,0.59:-,NOT_FOUND 1 168262299 rs7520743 C T 155 nt VT=SNV;PN=A;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.6302,T/0.3698;Gene=TBX19/NM_005149.2/1;CC=c.469-83C>T;VC=Intron;DM=TBX19/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:86:0:0:47,54:1570,1598:0.00,155.08:0.00,107.19:0.00,47.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,68.3:0,0:0,0:52,42:98,103:26,20:-,NM_005149.2(TBX19) c.469-83C>T:-,0.42:-,NOT_FOUND 1 168262517 . G . . NT END=168266961;NT GT ./. 1 168262522 . AGT A 47 idl,rn VT=DEL;SST=Single;DP=123;Gene=TBX19/NM_005149.2/1;CC=c.603+47_603+48delGT;VC=Intron;DM=TBX19/T-box;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGT,I,A:117:69:1:25:97,1,19:3023,25,772:0.00,0.59,47.41:0.00,-0.13,18.19:0.00,0.73,29.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.6,12.0,24.3:1,0,6:0,0,0:100,101,74:41,50,66:26,0,18:-,NM_005149.2(TBX19) c.603+7_603+8delGT:-,NOT_FOUND:-,NOT_FOUND 1 168262527 rs12096093 G T 92 nt VT=SNV;PN=T;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.497;Gene=TBX19/NM_005149.2/1;CC=c.603+11G>T;VC=Intron;DM=TBX19/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:111:64:0:3:73,38:2346,1049:0.00,92.00:0.00,34.28:0.00,57.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.2,38.3:21,0:0,0:95,98:52,52:25,21:-,NM_005149.2(TBX19) c.603+11G>T:-,0.18:-,NOT_FOUND 1 168262624 rs10800350 A G 86 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.09245,G/0.9075;Gene=TBX19/NM_005149.2/1;CC=c.603+108A>G;VC=Intron;DM=TBX19/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:50:2:0:0:21,1,28:704,7,877:0.00,-0.10,86.49:0.00,0.00,3.52:0.00,-0.10,82.97:0.00,0.00,1.00:0.00,0.00,0.84:0.00,0.00,1.00:60,60,60:43.7,53.0,65.0:0,0,0:0,0,0:113,145,92:38,-20,54:25,0,25:-,NM_005149.2(TBX19) c.603+108A>G:-,0.92:-,NOT_FOUND 1 168262746 rs10918865 A G 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1124,G/0.8876;PC=0.010;Gene=TBX19/NM_005149.2/1;CC=c.603+230A>G;VC=Intron;DM=TBX19/T-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:0:0:0:13:426:48.79:0.00:48.79:1.00:0.00:1.00:60:50.8:0:0:116:34:29:NM_005149.2(TBX19) c.603+230A>G,NM_005149.2(TBX19) c.603+230A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 168267024 . G . . NT END=168269659;NT GT ./. 1 168269722 . G . . NT END=168274245;NT GT ./. 1 168269930 rs4656578 G A 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=913;Gene=TBX19/NM_005149.2/1;CC=c.727+209G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:264:30.22:0.00:30.22:1.00:0.00:1.00:60:37.0:0:0:131:17:13:NM_005149.2(TBX19) c.727+209G>A,NM_005149.2(TBX19) c.727+209G>A:1,1:NOT_FOUND,NOT_FOUND 1 168274201 rs4656579 G A 182 nt VT=SNV;PN=G;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.5124,A/0.4876;Gene=TBX19/NM_005149.2/1;CC=c.728-45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A:48:43:0:0:48:1591:181.99:145.02:36.97:1.00:1.00:1.00:60:36.7:0:0:47:97:28:NM_005149.2(TBX19) c.728-45G>A,NM_005149.2(TBX19) c.728-45G>A:0.54,0.54:0.633169,0.633169 1 168274435 . G . . NT END=168277979;NT GT ./. 1 168274636 rs397792280 GT G 37 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=172;Gene=TBX19/NM_005149.2/1;CC=c.916+210delT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:11:10:320:36.77:0.00:36.77:1.00:0.00:1.00:70:21.0:0:0:112:39:23:NM_005149.2(TBX19) c.916+203delT,NM_005149.2(TBX19) c.916+203delT:0.75,0.75:NOT_FOUND,NOT_FOUND 1 168274691 rs6427122 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3754,T/0.6246;Gene=TBX19/NM_005149.2/1;CC=c.916+257C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:90:10.83:0.00:10.83:1.00:0.00:1.00:60:86.5:0:0:115:35:12:NM_005149.2(TBX19) c.916+257C>T,NM_005149.2(TBX19) c.916+257C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 168278116 . G . . NT END=168281945;NT GT ./. 1 168278149 rs146825210 G A 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.9954,A/0.004593;Gene=TBX19/NM_005149.2/1;CC=c.1052+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:20:0:0:24,30:750,960:70.30,0.00:16.29,0.00:54.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.9,19.0:0,0:0,0:103,97:47,53:30,28:NM_005149.2(TBX19) c.1052+34G>A,-:0.01,-:0.009534,- 1 168278264 rs1883148 G A 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2746,A/0.7254;Gene=TBX19/NM_005149.2/1;CC=c.1052+149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:0:0:0:14:414:48.06:0.00:48.06:1.00:0.00:1.00:60:52.3:0:0:133:18:14:NM_005149.2(TBX19) c.1052+149G>A,NM_005149.2(TBX19) c.1052+149G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 168282241 . G . . NT END=168510189;NT GT ./. 1 168282261 rs3885717 T A 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.5106,A/0.4894,G/.;Gene=TBX19/NM_005149.2/1;CC=c.*21T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:69:30:0:0:37,32:1112,1015:108.00,0.00:17.89,0.00:90.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,4.6:0,0:0,0:102,94:45,38:22,28:NM_005149.2(TBX19) c.*21T>A,-:0.44,-:0.456391,- 1 168282491 rs1000533 T C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8099,C/0.1901;Gene=TBX19/NM_005149.2/1;CC=c.*251T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:4:0:0:0:3,1:88,30:9.25,0.00:0.00,0.00:9.25,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:40.0,0.0:0,0:0,0:74,133:76,17:25,0:NM_005149.2(TBX19) c.*251T>C,-:0.24,-:NOT_FOUND,- 1 168287025 . ATG A,ATGTG 11 idl,nt VT=INS;SST=Single;DP=4;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:ATGTG,A:4:4:3:1:3,1:96,33:10.66,3.18:5.33,1.59:5.33,1.59:0.85,0.00:0.85,0.00:0.85,0.00:60,60:2.3,88.0:0,0:0,0:76,41:50,77:6,0:chr1 g.168287026_168287027delTG (intergenic),chr1 g.168287026_168287027dupTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 168368113 rs12072531 T G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9089,G/0.09105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:G,T:4:4:0:0:2,2:71,69:6.85,0.00:5.26,0.00:1.59,0.00:0.51,0.00:0.51,0.00:0.89,0.00:60,60:35.5,0.0:0,0:0,0:51,25:99,124:24,6:chr1 g.168368112T>G (intergenic),-:0.12,-:NOT_FOUND,- 1 168510122 rs470733 T A 163 nt VT=SNV;PN=A;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.3724,A/0.6276;Gene=XCL2/NM_003175.3/1;CC=c.*68A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:98:95:0:0:53,45:1672,1426:163.11,0.00:148.13,0.00:14.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,7.6:0,0:0,0:47,45:104,106:25,26:NM_003175.3(XCL2) c.*68A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 168510359 . C . . NT END=168511230;NT GT ./. 1 168511155 rs76400946 T C 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.3383,C/0.6617;Gene=XCL2/NM_003175.3/1;CC=c.176+76A>G;VC=Intron;DM=XCL2/IL8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:37:0:0:22,15:696,448:69.25,0.00:67.38,0.00:1.88,0.00:1.00,0.00:1.00,0.00:0.73,0.00:60,60:52.2,2.1:0,0:0,0:56,66:93,85:24,42:NM_003175.3(XCL2) c.176+76A>G,-:0.61,-:NOT_FOUND,- 1 168511284 rs4282797 T C 56 lc VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.648,C/0.352;Gene=XCL2/NM_003175.3/1;CC=c.123A>G;ProtCh=p.P41=;VC=Silent;DM=XCL2/IL8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:85:63:0:0:23,62:662,2103:55.61,0.00:19.84,0.00:35.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:81.9,11.1:0,0:0,0:101,62:41,67:16,32:NM_003175.3(XCL2) c.123A>G (p.(=)),-:0.29,-:0.138671,- 1 168511321 rs4501820 C T 37 lc VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.8804,T/0.1196;Gene=XCL2/NM_003175.3/1;CC=c.86G>A;ProtCh=p.R29K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:76:50:0:0:60,1,15:1927,12,457:0.00,-0.15,36.59:0.00,0.03,11.42:0.00,-0.17,25.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,26,44:12.1,207.0,110.3:0,0,0:0,0,0:85,43,125:51,95,26:31,0,21:-,NM_003175.3(XCL2) c.86G>A (p.Arg29Lys):-,0.26:-,0.019874 1 168511325 rs4301615 G C 26 lc VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.8796,C/0.1204;Gene=XCL2/NM_003175.3/1;CC=c.82C>G;ProtCh=p.H28D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:70:46:0:0:2,10,57,1:16,333,1898,10:-0.42,25.81,0.00,-0.21:-0.36,9.52,0.00,-0.17:-0.05,16.29,0.00,-0.04:0.00,0.99,0.00,0.00:0.00,0.99,0.00,0.00:0.00,1.00,0.00,0.00:58,41,60,40:135.0,115.9,14.1,78.0:0,0,0,0:0,0,0,0:110,93,84,40:41,57,47,106:19,48,29,0:NM_003175.3(XCL2) c.82C>G (p.His28Asp),-:0.26,-:0.025184,- 1 168511346 . C . . NT END=168513141;NT GT ./. 1 168511349 rs4478789 A G 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.6853,G/0.3147;PC=0.004;Gene=XCL2/NM_003175.3/1;CC=c.62-4T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:61:31:0:0:48,1,12:1421,12,290:0.00,-0.11,21.77:0.00,0.10,5.51:0.00,-0.21,16.26:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,26,54:14.6,207.0,87.8:0,0,0:0,0,0:94,71,60:40,67,81:25,0,23:-,NM_003175.3(XCL2) c.62-4T>C:-,0.28:-,0.072121 1 168513129 rs3820405 C T 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.6468,T/0.3532;Gene=XCL2/NM_003175.3/1;CC=c.61+13G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:60:53:0:0:1,43,16:10,1451,523:-0.16,0.00,44.96:-0.23,0.00,22.39:0.07,0.00,22.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,60:237.0,9.2,75.8:0,0,0:0,0,0:38,38,56:113,108,88:0,23,21:-,NM_003175.3(XCL2) c.61+13G>A:-,0.4:-,NOT_FOUND 1 168513203 . G . . NT END=168545875;NT GT ./. 1 168513214 rs3820406 C T 36 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.9259,T/0.07408;NP=197;Gene=XCL2/NM_003175.3/1;CC=c.-12G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:39:0:0:53,14:1593,441:0.00,35.92:0.00,-2.60:0.00,38.52:0.00,1.00:0.00,1.00:0.00,1.00:60,48:8.7,110.6:0,0:0,0:88,124:49,27:28,13:-,NM_003175.3(XCL2) c.-12G>A:-,NOT_FOUND:-,0.015303 1 168513228 rs3820407 G A 34 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.9,A/0.1;Gene=XCL2/NM_003175.3/1;CC=c.-26C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:63:32:0:0:12,50,1:411,1685,12:33.60,0.00,-0.12:-1.88,0.00,-0.14:35.48,0.00,0.02:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:40,60,60:121.4,5.5,199.0:0,0,0:0,0,0:129,100,25:20,37,125:13,25,0:NM_003175.3(XCL2) c.-26C>T,-:0.09,-:0.039978,- 1 168513257 rs3820409 T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.9958,C/0.004193;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:C,T:44:19:0:0:4,40:117,1225:7.81,0.00:-0.48,0.00:8.28,0.00:0.57,0.00:0.73,0.00:0.92,0.00:27,60:134.5,9.9:0,0:0,0:106,101:44,46:35,27:NM_003175.3(XCL2) c.-33-u22A>G,-:0.0037,-:NOT_FOUND,- 1 168545684 rs59830357 G GA 18 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4343,GA/0.5657;DB;DBA=NA;PAF=G/0.4343,GA/0.5657;DB;DBA=NA;PAF=G/0.4343,GA/0.5657;NP=232;PC=0.030;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:G,GA:18:18:6:0:12,6:379,197:0.00,17.59:0.00,17.59:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:51.4,5.2:0,0:0,0:15,14:135,132:15,8:-,NM_002995.2(XCL1) c.-165-u27_-165-u26insA:-,0.48:-,NOT_FOUND 1 168545692 rs59250136 CTTT C 14 idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CTTT/0.4688,C/0.5312;DB;DBA=NA;PAF=CTTT/0.4688,C/0.5312;NP=2;PC=0.788;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:CTTT,I,C:17:20:2:8:10,2,5:337,66,257:0.00,5.10,14.03:0.00,5.10,14.03:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,60:40.1,39.0,101.6:0,0,3:0,0,0:19,51,14:132,100,136:10,43,10:-,NM_002995.2(XCL1) c.-165-u18_-165-u16delTTT:-,NOT_FOUND:-,NOT_FOUND 1 168545758 rs28433337 C T 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.5958,T/0.4042;PC=0.022;Gene=XCL1/NM_002995.2/1;CC=c.-118C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:49:0:0:23,28:672,812:0.00,79.26:0.00,75.71:0.00,3.55:0.00,1.00:0.00,1.00:0.00,0.96:60,60:16.4,53.8:0,0:0,0:29,37:121,113:24,30:-,NM_002995.2(XCL1) c.-118C>T:-,0.38:-,NOT_FOUND 1 168545937 . G . . NT END=168549300;NT GT ./. 1 168545949 rs34933908 G A 178 nt VT=SNV;PN=A;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=NA;Gene=XCL1/NM_002995.2/1;CC=c.61+13G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:56:0:0:58,42:1803,1397:178.38,0.00:59.29,0.00:119.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,11.9:0,0:0,0:102,107:44,41:24,23:NM_002995.2(XCL1) c.61+13G>A,-:0.56,-:NOT_FOUND,- 1 168545969 rs373393291 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=20;Gene=XCL1/NM_002995.2/1;CC=c.61+33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:80:36:0:0:1,67,12:12,2262,363:-0.17,0.00,27.47:0.07,0.00,3.85:-0.24,0.00,23.62:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:24,60,42:229.0,19.0,86.4:0,0,0:0,0,0:131,93,119:20,58,30:0,28,12:-,NM_002995.2(XCL1) c.61+33C>T:-,NOT_FOUND:-,0.001153 1 168549200 . A T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;NP=99;Gene=XCL1/NM_002995.2/1;CC=c.62-101A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,T:46:46:0:0:38,8:1137,239:0.00,18.50:0.00,18.50:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,40:10.8,108.6:0,0:0,0:41,18:109,132:36,13:-,NM_002995.2(XCL1) c.62-101A>T:-,NOT_FOUND:-,NOT_FOUND 1 168549234 rs376339731 T C 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=258;Gene=XCL1/NM_002995.2/1;CC=c.62-67T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:70:66:0:0:1,13,56:10,409,1793:-0.21,32.61,0.00:-0.17,33.24,0.00:-0.04,-0.63,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.82,0.00:43,53,60:59.0,100.0,9.5:0,0,0:0,0,0:111,38,31:17,113,119:0,16,21:NM_002995.2(XCL1) c.62-67T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 168549254 rs5024578 A G 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=NA;Gene=XCL1/NM_002995.2/1;CC=c.62-47A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:92:82:0:0:75,17:2334,539:0.00,42.91:0.00,35.08:0.00,7.82:0.00,1.00:0.00,1.00:0.00,0.99:60,56:11.6,80.1:0,0:0,0:33,33:115,115:22,21:-,NM_002995.2(XCL1) c.62-47A>G:-,0.05:-,NOT_FOUND 1 168549416 . G . . NT END=168550289;NT GT ./. 1 168549440 rs201148594 T G 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=NA;PC=0.001;Gene=XCL1/NM_002995.2/1;CC=c.176+25T>G;VC=Intron;DM=XCL1/IL8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:104:39:0:0:17,87:542,2851:42.21,0.00:5.84,0.00:36.37,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:83.4,5.5:0,0:0,0:135,96:15,51:12,29:NM_002995.2(XCL1) c.176+25T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 168549453 . T C 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=92;NP=3;Gene=XCL1/NM_002995.2/1;CC=c.176+38T>C;VC=Intron;DM=XCL1/IL8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,G,T:92:28:0:0:10,1,81:321,10,2614:23.19,-0.28,0.00:2.65,0.03,0.00:20.55,-0.31,0.00:0.98,0.00,0.00:0.90,0.00,0.00:1.00,0.00,0.00:49,60,60:104.4,101.0,4.8:0,0,0:0,0,0:131,103,105:18,47,38:17,0,28:NM_002995.2(XCL1) c.176+38T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 168549459 . A G 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;NP=3;Gene=XCL1/NM_002995.2/1;CC=c.176+44A>G;VC=Intron;DM=XCL1/IL8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,G:84:21:0:0:76,8:2485,263:0.00,18.66:0.00,0.99:0.00,17.67:0.00,0.93:0.00,0.77:0.00,1.00:60,40:6.7,115.4:0,0:0,0:106,123:43,28:28,21:-,NM_002995.2(XCL1) c.176+44A>G:-,NOT_FOUND:-,NOT_FOUND 1 168549477 rs199601264 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=167;Gene=XCL1/NM_002995.2/1;CC=c.176+62G>A;VC=Intron;DM=XCL1/IL8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:A,G:65:10:0:0:5,60:168,1947:11.54,0.00:-0.23,0.00:11.76,0.00:0.68,0.00:0.49,0.00:0.96,0.00:39,60:119.2,8.8:0,0:0,0:86,109:65,40:32,23:NM_002995.2(XCL1) c.176+62G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 168549565 rs56047172 T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;NP=205;Gene=XCL1/NM_002995.2/1;CC=c.176+150T>C;VC=Intron;DM=XCL1/IL8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,T:28:0:0:0:4,24:112,772:8.16,0.00:0.00,0.00:8.16,0.00:0.66,0.00:0.00,0.00:0.66,0.00:40,60:65.0,9.8:0,0:0,0:59,83:92,62:29,29:NM_002995.2(XCL1) c.176+150T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 168550459 . T . . NT END=168665786;NT GT ./. 1 168665854 . C . . NT END=168670254;NT GT ./. 1 168670363 . C . . NT END=168683458;NT GT ./. 1 168683585 . C . . NT END=168698107;NT GT ./. 1 168697942 rs628718 C T 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3916,T/0.6084;Gene=DPT/NM_001937.4/1;CC=c.305+166G>A;VC=Intron;DM=DPT/DERM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:538:61.88:61.88:0.00:1.00:1.00:0.00:60:47.6:0:0:43:106:24:NM_001937.4(DPT) c.305+166G>A,NM_001937.4(DPT) c.305+166G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 168698173 rs1052591 C T 509 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.6825,T/0.3175;Gene=DPT/NM_001937.4/1;CC=c.240G>A;ProtCh=p.T80=;VC=Silent;DM=DPT/DERM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:142:115:0:0:1,141:9,4430:0.06,509.38:0.06,287.45:0.00,221.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:107.0,36.6:0,0:0,0:23,52:128,90:0,32:NM_001937.4(DPT) c.240G>A (p.(=)),NM_001937.4(DPT) c.240G>A (p.(=)):0.33,0.33:0.468707,0.468707 1 168698413 . G . . NT END=169076067;NT GT ./. 1 168698463 rs375245821 C T 122 nt VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=5;PC=0.503 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:75:26:0:0:1,36,38:12,1057,1256:-0.01,0.00,121.53:-0.06,0.00,24.60:0.05,0.00,96.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:72.0,9.4,48.0:0,0,0:0,0,0:28,111,116:113,39,34:0,27,20:-,NM_001937.4(DPT) c.-30-u21G>A:-,NOT_FOUND:-,0.001384 1 168756877 rs143229679 C G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9944,G/0.005591;NP=24;Gene=LINC00626/NR_024160.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:C,G:4:2:0:0:2,2:50,72:0.00,6.95:0.00,-0.45:0.00,7.40:0.00,0.51:0.00,0.79:0.00,0.89:60,60:17.0,44.5:0,0:0,0:97,69:53,77:21,14:-,NR_024160.1(LINC00626) n.288+411C>G:-,0.01:-,NOT_FOUND 1 168867600 rs10489364 C T 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5557,T/0.4443;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,T:8:3:0:0:4,4:134,134:0.00,12.90:0.00,3.43:0.00,9.47:0.00,0.87:0.00,0.89:0.00,0.87:60,60:0.0,61.5:0,0:0,0:49,93:101,57:6,10:-,chr1 g.168867599C>T (intergenic):-,0.46:-,NOT_FOUND 1 169076165 . G . . NT END=169079840;NT GT ./. 1 169076212 rs1200128 G C 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.8826,A/.,C/0.1174;Gene=ATP1B1/NM_001677.3/1;CC=c.97+48G>C;VC=Intron;DM=ATP1B1/Na_K-ATPase;DM=ATP1B1/Na_K-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:10:0:0:19,20:549,606:52.13,0.00:13.43,0.00:38.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,7.0:0,0:0,0:119,71:32,78:15,37:NM_001677.3(ATP1B1) c.97+48G>C,-:0.15,-:0.227772,- 1 169079680 rs1358715 C T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3209,T/0.6791;PC=0.137;Gene=ATP1B1/NM_001677.3/1;CC=c.98-928C>T;VC=Intron;DM=ATP1B1/Na_K-ATPase;DM=ATP1B1/Na_K-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T:7:7:0:0:4,3:117,78:0.00,7.16:0.00,7.16:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,54.3:0,0:0,0:72,129:77,8:26,18:-,NM_001677.3(ATP1B1) c.98-928C>T:-,0.67:-,NOT_FOUND 1 169079805 rs397967668 C CT 8 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=7;PC=0.001;Gene=ATP1B1/NM_001677.3/1;CC=c.98-784dupT;VC=Intron;DM=ATP1B1/Na_K-ATPase;DM=ATP1B1/Na_K-ATPase;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,CT,D:15:15:3:3:11,3,1:364,98,68:0.00,8.06,2.36:0.00,8.15,-1.61:0.00,-0.09,3.98:0.00,0.54,0.00:0.00,0.91,0.00:0.00,0.57,0.00:60,60,60:60.7,37.7,86.0:0,0,1:0,0,0:69,52,72:82,82,78:27,35,2:-,NM_001677.3(ATP1B1) c.98-803_98-802insT:-,NOT_FOUND:-,NOT_FOUND 1 169079942 . G . . NT END=169080607;NT GT ./. 1 169080435 rs1200137 T C 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2402,C/0.7598;Gene=ATP1B1/NM_001677.3/1;CC=c.98-173T>C;VC=Intron;DM=ATP1B1/Na_K-ATPase;DM=ATP1B1/Na_K-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:249:29.13:29.13:0.00:1.00:1.00:0.00:60:60.1:0:0:19:131:12:NM_001677.3(ATP1B1) c.98-173T>C,NM_001677.3(ATP1B1) c.98-173T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 1 169080737 . G . . NT END=169094121;NT GT ./. 1 169080837 rs1200138 C T 131 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.2532,T/0.7468;Gene=ATP1B1/NM_001677.3/1;CC=c.226+101C>T;VC=Intron;DM=ATP1B1/Na_K-ATPase;DM=ATP1B1/Na_K-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:3:0:0:36:1136:130.74:5.82:124.92:1.00:1.00:1.00:60:41.5:0:0:106:45:24:NM_001677.3(ATP1B1) c.226+101C>T,NM_001677.3(ATP1B1) c.226+101C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 1 169094100 rs968304 T A 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.3421,A/0.6579;PC=0.003;Gene=ATP1B1/NM_001677.3/1;CC=c.227-22T>A;VC=Intron;DM=ATP1B1/Na_K-ATPase;DM=ATP1B1/Na_K-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:41:35:0:0:22,19:694,584:67.59,0.00:57.87,0.00:9.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,12.3:0,0:0,0:51,28:99,117:30,15:NM_001677.3(ATP1B1) c.227-22T>A,-:0.67,-:0.614024,- 1 169094278 . G . . NT END=169096461;NT GT ./. 1 169094459 rs1892094 C T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7089,T/0.2911;Gene=ATP1B1/NM_001677.3/1;CC=c.382+182C>T;VC=Intron;DM=ATP1B1/Na_K-ATPase;DM=ATP1B1/Na_K-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:9:0:0:0:3,6:101,197:0.00,20.07:0.00,0.00:0.00,20.07:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,32.8:0,0:0,0:130,125:19,24:20,17:-,NM_001677.3(ATP1B1) c.382+182C>T:-,0.32:-,NOT_FOUND 1 169096647 . G . . NT END=169099247;NT GT ./. 1 169099329 . G . . NT END=169100529;NT GT ./. 1 169100241 rs1200159 T C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.373,C/0.627;Gene=ATP1B1/NM_001677.3/1;CC=c.649-289T>C;VC=Intron;DM=ATP1B1/Na_K-ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:105,34:10.95,0.00:10.95,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:35.0,0.0:0,0:0,0:56,70:95,81:5,0:NM_001677.3(ATP1B1) c.649-289T>C,-:0.65,-:NOT_FOUND,- 1 169100794 . T . . NT END=169102022;NT GT ./. 1 169102056 . C . . NT END=169138684;NT GT ./. 1 169102223 rs61803315 G C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7596,C/0.2404;PC=0.017;Gene=NME7/NM_013330.4/1;CC=c.1099-168C>G;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.991-168C>G;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:C,G,T:11:0:0:0:5,5,1:151,174,9:14.45,0.00,0.24:0.00,0.00,0.00:14.45,0.00,0.24:0.93,0.00,0.00:0.00,0.00,0.00:0.93,0.00,0.00:60,60,60:38.6,0.0,9.0:0,0,0:0,0,0:80,61,22:71,89,129:47,1,0:NM_013330.3(NME7) c.1099-168C>G,-:0.26,-:NOT_FOUND,- 1 169102313 rs61803316 C G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7772,G/0.2228;PC=0.001;Gene=NME7/NM_013330.4/1;CC=c.1099-258G>C;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.991-258G>C;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,G:6:0:0:0:3,3:99,103:0.00,9.93:0.00,0.00:0.00,9.93:0.00,0.73:0.00,0.00:0.00,0.73:60,60:3.0,44.7:0,0:0,0:112,22:39,128:25,3:-,NM_013330.3(NME7) c.1099-258G>C:-,0.24:-,NOT_FOUND 1 169138793 . C . . NT END=169199955;NT GT ./. 1 169138868 rs3737681 C T 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5994,T/0.4006;PC=0.001;Gene=NME7/NM_013330.4/1;CC=c.991-76G>A;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.883-76G>A;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:5:0:0:9,14:264,453:0.00,45.29:0.00,7.12:0.00,38.17:0.00,1.00:0.00,0.99:0.00,1.00:60,60:3.9,37.3:0,0:0,0:94,104:57,47:47,32:-,NM_013330.3(NME7) c.991-76G>A:-,0.45:-,NOT_FOUND 1 169179829 rs3835445 T TACAC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=112;NP=203;PC=0.002;Gene=NME7/NM_013330.4/1;CC=c.990+20123_990+20126dupGTGT;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.882+20123_882+20126dupGTGT;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TACAC:4:4:3:0:1,3:33,95:0.00,9.95:0.00,4.98:0.00,4.98:0.00,0.85:0.00,0.85:0.00,0.85:60,60:32.0,0.0:0,0:0,0:144,55:7,34:0,11:-,NM_013330.3(NME7) c.990+20126_990+20127insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 169200058 . C . . NT END=169204368;NT GT ./. 1 169200111 rs10800420 C T 37 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5889,T/0.4111;Gene=NME7/NM_013330.4/1;CC=c.889-54G>A;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.781-54G>A;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:7:0:0:15,12:483,398:0.00,37.47:0.00,-1.28:0.00,38.75:0.00,1.00:0.00,0.97:0.00,1.00:60,60:9.5,37.3:0,0:0,0:106,102:45,47:21,23:-,NM_013330.3(NME7) c.889-54G>A:-,0.47:-,NOT_FOUND 1 169204438 . C . . NT END=169206860;NT GT ./. 1 169206926 . C . . NT END=169256540;NT GT ./. 1 169256341 rs71635617 C T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8702,T/0.1298;PC=0.022;Gene=NME7/NM_013330.4/1;CC=c.754+200G>A;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.646+200G>A;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:176:19.98:19.98:0.00:1.00:1.00:0.00:60:70.4:0:0:73:78:19:NM_013330.3(NME7) c.754+200G>A,NM_013330.3(NME7) c.754+200G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 1 169256349 rs2420015 C G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6735,G/0.3265;Gene=NME7/NM_013330.4/1;CC=c.754+192G>C;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.646+192G>C;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:176:19.98:19.98:0.00:1.00:1.00:0.00:60:70.4:0:0:81:70:19:NM_013330.3(NME7) c.754+192G>C,NM_013330.3(NME7) c.754+192G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 169256356 rs5778611 G GA 19 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5615,GA/0.4385;DB;DBA=NA;PAF=G/0.5615,GA/0.4385;NP=538;Gene=NME7/NM_013330.4/1;CC=c.754+184dupT;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.646+184dupT;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GA:5:5:5:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:70.4:0:0:88:63:19:NM_013330.3(NME7) c.754+184_754+185insT,NM_013330.3(NME7) c.754+184_754+185insT:0.49,0.49:NOT_FOUND,NOT_FOUND 1 169256501 rs4589164 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.872,T/0.128;Gene=NME7/NM_013330.4/1;CC=c.754+40G>A;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.646+40G>A;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:13:12:0:0:8,5:242,175:0.00,16.13:0.00,12.88:0.00,3.25:0.00,0.91:0.00,0.99:0.00,0.79:60,60:6.2,37.4:0,0:0,0:50,44:99,106:35,33:-,NM_013330.3(NME7) c.754+40G>A:-,0.17:-,0.257035 1 169256647 . C . . NT END=169267793;NT GT ./. 1 169268002 . C . . NT END=169272382;NT GT ./. 1 169268077 rs12116683 T C 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.8702,C/0.1298;PC=0.530;Gene=NME7/NM_013330.4/1;CC=c.441-76A>G;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.333-76A>G;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:5:0:0:12,23:372,749:33.13,0.00:4.71,0.00:28.42,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:41.7,6.2:0,0:0,0:89,86:61,65:40,33:NM_013330.3(NME7) c.441-76A>G,-:0.17,-:NOT_FOUND,- 1 169272299 rs10919130 A T 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.7726,T/0.2274;Gene=NME7/NM_013330.4/1;CC=c.440+84T>A;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.332+84T>A;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:19:18:0:0:8,11:256,362:0.00,35.83:0.00,32.66:0.00,3.18:0.00,1.00:0.00,1.00:0.00,0.97:60,60:8.8,51.8:0,0:0,0:33,39:117,110:23,13:-,NM_013330.3(NME7) c.440+84T>A:-,0.27:-,NOT_FOUND 1 169272434 . C . . NT END=169279207;NT GT ./. 1 169272451 rs10800427 A T 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.01797,T/0.982;PC=0.102;Gene=NME7/NM_013330.4/1;CC=c.390-18T>A;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.282-18T>A;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:5:0:0:18:589:67.48:12.92:54.56:1.00:1.00:1.00:60:71.8:0:0:103:47:29:NM_013330.3(NME7) c.390-18T>A,NM_013330.3(NME7) c.390-18T>A:0.98,0.98:0.962434,0.962434 1 169272453 rs10800428 G A 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.01717,A/0.9828;Gene=NME7/NM_013330.4/1;CC=c.390-20C>T;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.282-20C>T;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,C:18:5:0:0:17,1:512,27:58.87,1.93:13.13,0.00:45.74,1.93:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.0,83.0:0,0:0,0:103,68:47,82:22,0:NM_013330.3(NME7) c.390-20C>T,NM_013330.3(NME7) c.390-20C>T:0.98,0.98:0.962589,0.962589 1 169279196 rs561377487 T TA 18 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7726,TA/0.2274;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7726,TA/0.2274,TAA/.;NP=2003;Gene=NME7/NM_013330.4/1;CC=c.389+11dupT;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.281+11dupT;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:T,TA:21:21:7:0:14,7:469,208:0.00,18.33:0.00,19.13:0.00,-0.79:0.00,0.97:0.00,0.97:0.00,0.64:60,60:5.2,16.4:0,0:0,0:58,58:92,92:33,14:-,NM_013330.3(NME7) c.389+11_389+12insT:-,NOT_FOUND:-,NOT_FOUND 1 169279319 . C . . NT END=169292354;NT GT ./. 1 169292522 . C . . NT END=169293630;NT GT ./. 1 169292840 rs10800432 T A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.773,A/0.227;PC=0.006;Gene=NME7/NM_013330.4/1;CC=c.112-319A>T;VC=Intron;Gene=NME7/NM_197972.2/0;CC=c.4-319A>T;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,T:5:0:0:0:4,1:108,33:11.61,0.00:0.00,0.00:11.61,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:40.0,0.0:0,0:0,0:63,73:86,77:12,0:NM_013330.3(NME7) c.112-319A>T,-:0.27,-:NOT_FOUND,- 1 169293721 rs1140523 G A 38 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.773,A/0.227,C/.;PC=0.478;Gene=NME7/NM_013330.4/1;CC=c.21C>T;ProtCh=p.F7=;VC=Silent;Gene=NME7/NM_197972.2/0;CC=c.-74-14C>T;VC=Intron;Gene=NME7/NR_104229.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:29:0:0:13,30:433,979:38.09,0.00:21.16,0.00:16.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,7.6:0,0:0,0:109,98:41,45:17,25:NM_013330.3(NME7) c.21C>T (p.(=)),-:0.27,-:0.359526,- 1 169293739 . C . . NT END=169336945;NT GT ./. 1 169336949 . T . . NT END=169338760;NT GT ./. 1 169338520 rs71738873 A AT 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3988,AT/0.3029,ATT/0.2983;DB;DBA=NA;PAF=A/0.3988,AT/0.3029,ATT/0.2983;NP=110;NP=17;Gene=BLZF1/NM_003666.2/1;CC=c.-50-180dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,T,AT:8:8:3:0:4,1,3:126,18,93:0.00,1.15,8.64:0.00,1.15,8.64:0.00,0.00,0.00:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.00:60,60,60:19.0,145.0,17.7:0,1,0:0,0,0:83,98,39:67,53,111:40,0,1:-,NM_003666.2(BLZF1) c.-50-191_-50-190insT:-,NOT_FOUND:-,NOT_FOUND 1 169338789 . G . . NT END=169345777;NT GT ./. 1 169345704 rs12563090 G A 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.602,A/0.398;Gene=BLZF1/NM_003666.2/1;CC=c.29-74G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:13,9:441,204:43.90,0.00:34.83,0.00:9.08,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.2,19.2:0,0:0,0:22,61:129,76:10,33:NM_003666.2(BLZF1) c.29-74G>A,-:0.44,-:NOT_FOUND,- 1 169346218 . G . . NT END=169347567;NT GT ./. 1 169347768 . G . . NT END=169349718;NT GT ./. 1 169349608 rs3830533 C CTA 38 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3305,CAT/.,CTA/0.6695;NP=1589;Gene=BLZF1/NM_003666.2/1;CC=c.669-110_669-109insAT;VC=Intron;DM=BLZF1/DASH_Hsk3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,CTA:17:17:12:0:5,12:144,372:0.00,38.48:0.00,38.48:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.0,7.1:0,0:0,0:114,65:33,86:22,41:-,NM_003666.2(BLZF1) c.669-111_669-110insTA:-,0.73:-,NOT_FOUND 1 169349848 . G . . NT END=169351299;NT GT ./. 1 169351520 . G . . NT END=169356234;NT GT ./. 1 169351596 rs3905328 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.3109,G/0.6891;Gene=BLZF1/NM_003666.2/1;CC=c.1017+77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:3:0:0:11,10:361,323:0.00,30.76:0.00,2.47:0.00,28.29:0.00,1.00:0.00,0.87:0.00,1.00:60,60:7.3,39.4:0,0:0,0:119,89:32,62:12,32:-,NM_003666.2(BLZF1) c.1017+77A>G:-,0.75:-,NOT_FOUND 1 169356004 rs11581416 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9543,A/0.04573;Gene=BLZF1/NM_003666.2/1;CC=c.1018-231G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,G:7:7:0:0:5,2:140,58:14.53,0.00:14.53,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:60.0,4.5:0,0:0,0:63,47:88,103:20,35:NM_003666.2(BLZF1) c.1018-231G>A,-:0.03,-:NOT_FOUND,- 1 169356421 . C . . NT END=169364284;NT GT ./. 1 169364445 . C . . NT END=169366474;NT GT ./. 1 169364479 rs17576071 T G 78 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.9541,G/0.04593;Gene=BLZF1/NM_003666.2/1;CC=c.*28-653T>G;VC=Intron;Gene=CCDC181/NM_001300969.1/0;CC=c.1371-35A>C;VC=Intron;Gene=CCDC181/NM_021179.2/0;CC=c.1368-35A>C;VC=Intron;Gene=CCDC181/NM_001300968.1/1;CC=c.1368-35A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:43:17:0:0:25,18:786,591:77.76,0.00:23.07,0.00:54.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,8.4:0,0:0,0:108,110:40,40:21,24:NM_021179.1(C1orf114) c.1368-35A>C,-:0.03,-:0.040366,- 1 169366630 . C . . NT END=169388250;NT GT ./. 1 169388398 . C . . NT END=169390600;NT GT ./. 1 169390957 rs35107735 A T 143 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.8562,T/0.1438;PC=0.981;Gene=CCDC181/NM_001300969.1/0;CC=c.712T>A;ProtCh=p.F238I;VC=Missense;Gene=CCDC181/NM_021179.2/0;CC=c.712T>A;ProtCh=p.F238I;VC=Missense;Gene=CCDC181/NM_001300968.1/1;CC=c.712T>A;ProtCh=p.F238I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:74:46:0:0:26,48:815,1413:0.00,143.18:0.00,69.24:0.00,73.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,41.2:0,0:0,0:72,92:78,58:38,32:-,NM_021179.1(C1orf114) c.712T>A (p.Phe238Ile):-,0.18:-,0.282485 1 169391154 rs3820059 A G 134 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.3111,G/0.6889;Gene=CCDC181/NM_001300969.1/0;CC=c.515T>C;ProtCh=p.F172S;VC=Missense;Gene=CCDC181/NM_021179.2/0;CC=c.515T>C;ProtCh=p.F172S;VC=Missense;Gene=CCDC181/NM_001300968.1/1;CC=c.515T>C;ProtCh=p.F172S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:37:0:0:29,39:910,1357:0.00,134.22:0.00,62.39:0.00,71.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,43.9:0,0:0,0:64,71:87,78:45,35:-,NM_021179.1(C1orf114) c.515T>C (p.Phe172Ser):-,0.75:-,0.644362 1 169391552 . C . . NT END=169394048;NT GT ./. 1 169394166 . T . . NT END=169435086;NT GT ./. 1 169394226 rs10919168 A G 77 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.2416,G/0.7584;Gene=CCDC181/NM_001300969.1/0;CC=c.-23-38T>C;VC=Intron;Gene=CCDC181/NM_021179.2/0;CC=c.-23-38T>C;VC=Intron;Gene=CCDC181/NM_001300968.1/1;CC=c.-23-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:6:0:0:20:677:77.24:17.88:59.35:1.00:1.00:1.00:60:35.4:0:0:109:41:20:NM_021179.1(C1orf114) c.-23-38T>C,NM_021179.1(C1orf114) c.-23-38T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 169435027 rs2678166 C T 127 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.002396,A/.,T/0.9976;NP=3461;PC=0.403;Gene=SLC19A2/NM_006996.2/1;CC=c.*60G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:32:0:0:35:1108:127.41:106.74:20.67:1.00:1.00:1.00:60:34.9:0:0:56:93:40:NM_006996.2(SLC19A2) c.*60G>A,NM_006996.2(SLC19A2) c.*60G>A:1,1:NOT_FOUND,NOT_FOUND 1 169435216 . C . . NT END=169437348;NT GT ./. 1 169437491 . C . . NT END=169437881;NT GT ./. 1 169438075 . C . . NT END=169439201;NT GT ./. 1 169439425 . C . . NT END=169446392;NT GT ./. 1 169440701 . CCACACACACACA C 9 nt VT=DEL;SST=Single;DP=8;PC=0.021;Gene=SLC19A2/NM_006996.2/1;CC=c.808-1289_808-1278delTGTGTGTGTGTG;VC=Intron;DM=SLC19A2/Folate_carrier;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:CCACACACACACA,C:7:7:0:4:4,3:140,131:0.00,9.04:0.00,9.34:0.00,-0.31:0.00,0.67:0.00,0.95:0.00,0.85:60,60:0.0,14.7:0,1:0,0:100,47:40,85:6,23:-,NM_006996.2(SLC19A2) c.808-1289_808-1278delTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 169446183 rs1983546 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.385,G/0.615;PC=0.004;Gene=SLC19A2/NM_006996.2/1;CC=c.807+210T>C;VC=Intron;DM=SLC19A2/Folate_carrier GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,G:8:8:0:0:3,5:87,134:0.00,13.43:0.00,13.43:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:3.3,32.2:0,0:0,0:110,80:40,71:23,4:-,NM_006996.2(SLC19A2) c.807+210T>C:-,0.61:-,NOT_FOUND 1 169446996 . C . . NT END=169454800;NT GT ./. 1 169447008 rs78337980 G GA 16 idl,rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1;NP=2;Gene=SLC19A2/NM_006996.2/1;CC=c.205-14dupT;VC=Intron;DM=SLC19A2/Folate_carrier;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G,GA,D:66:35:7:6:5,50,7,4:48,1565,220,128:0.53,0.00,16.10,8.49:-0.67,0.00,5.81,2.08:1.20,0.00,10.29,6.41:0.00,0.00,0.89,0.00:0.00,0.00,0.93,0.00:0.00,0.00,0.99,0.00:60,60,60,60:64.6,21.2,33.7,28.8:0,0,0,0:0,0,0,0:46,96,88,61:105,54,31,89:15,33,32,36:-,NM_006996.2(SLC19A2) c.205-14_205-13insT:-,NOT_FOUND:-,NOT_FOUND 1 169455005 . C . . NT END=169483550;NT GT ./. 1 169455008 rs2072757 G A 236 nt VT=SNV;PN=G;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=G/0.8025,A/0.1975;PC=0.090;Gene=SLC19A2/NM_006996.2/1;CC=c.-4C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:187:89:0:0:77,108,2:2542,3447,19:236.36,0.00,-0.30:65.28,0.00,-0.16:171.08,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,12.4,47.0:0,0,0:0,0,0:99,91,70:50,46,79:32,34,38:NM_006996.2(SLC19A2) c.-4C>T,-:0.16,-:0.106304,- 1 169483698 . C . . NT END=169484681;NT GT ./. 1 169484865 . C . . NT END=169487649;NT GT ./. 1 169487802 . C . . NT END=169489757;NT GT ./. 1 169489903 . C . . NT END=169492434;NT GT ./. 1 169492591 . C . . NT END=169493038;NT GT ./. 1 169493143 . C . . NT END=169494074;NT GT ./. 1 169493953 rs12131397 A C 71 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7286,C/0.2714;Gene=F5/NM_000130.4/1;CC=c.5788+122T>G;VC=Intron;DM=F5/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:18:0:0:18:620:70.59:70.59:0.00:1.00:1.00:0.00:60:35.0:0:0:25:126:18:NM_000130.4(F5) c.5788+122T>G,NM_000130.4(F5) c.5788+122T>G:0.31,0.31:NOT_FOUND,NOT_FOUND 1 169494147 . C . . NT END=169495138;NT GT ./. 1 169495256 . C . . NT END=169497152;NT GT ./. 1 169497333 . C . . NT END=169498845;NT GT ./. 1 169498834 rs6009 T C 183 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.0637,C/0.9363;PC=0.892;Gene=F5/NM_000130.4/1;CC=c.5419+12A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C:51:43:0:0:51:1592:183.47:126.87:56.59:1.00:1.00:1.00:60:37.3:0:0:50:100:28:NM_000130.4(F5) c.5419+12A>G,NM_000130.4(F5) c.5419+12A>G:0.91,0.91:0.916346,0.916346 1 169499057 . C . . NT END=169500023;NT GT ./. 1 169500261 . C . . NT END=169505743;NT GT ./. 1 169505919 . C . . NT END=169509531;NT GT ./. 1 169510233 rs9332607 G A 725 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=250;DB;DBA=NA;PAF=G/0.8179,A/0.1821;Gene=F5/NM_000130.4/1;CC=c.4095C>T;ProtCh=p.T1365=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A,G:250:184:0:0:226,24:6516,439:725.34,0.00:396.96,0.00:328.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,70.1:0,0:0,0:68,91:74,40:33,24:NM_000130.4(F5) c.4095C>T (p.(=)),NM_000130.4(F5) c.4095C>T (p.(=)):0.26,0.26:0.329079,0.329079 1 169510367 rs112331368 T G 55 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=290;DB;DBA=NA;PAF=NA;NP=616;Gene=F5/NM_000130.4/1;CC=c.3961A>C;ProtCh=p.I1321L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:290:166:0:0:2,47,241:36,872,6751:0.18,54.78,0.00:0.57,17.46,0.00:-0.39,37.32,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:56,60,60:167.0,75.0,25.9:0,0,0:0,0,0:99,52,73:51,79,63:5,33,30:NM_000130.4(F5) c.3961A>C (p.Ile1321Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 169511585 rs9332695 T A 184 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.9942,A/0.005791;PC=0.001;Gene=F5/NM_000130.4/1;CC=c.2743A>T;ProtCh=p.T915S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:117:72:0:0:59,2,56:1904,20,1842:183.90,-0.09,0.00:97.24,0.13,0.00:86.67,-0.22,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,30.0,8.9:0,0,0:0,0,0:78,137,65:72,13,74:33,12,37:NM_000130.4(F5) c.2743A>T (p.Thr915Ser),-:0.01,-:0.012304,- 1 169512353 . C . . NT END=169513533;NT GT ./. 1 169513747 . C . . NT END=169515679;NT GT ./. 1 169515831 . C . . NT END=169519038;NT GT ./. 1 169518775 rs10800455 A G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8059,G/0.1941;Gene=F5/NM_000130.4/1;CC=c.1611+264T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G:6:6:0:0:6:138:16.46:16.46:0.00:1.00:1.00:0.00:60:27.7:0:0:52:98:33:NM_000130.4(F5) c.1611+264T>C,NM_000130.4(F5) c.1611+264T>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 169519049 rs6025 T C 200 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=54;DB;DBA=in-clinvar;PAF=C/0.00599,T/0.994;PC=0.998;Gene=F5/NM_000130.4/1;CC=c.1601A>G;ProtCh=p.Q534R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C:54:46:0:0:54:1744:200.09:136.96:63.13:1.00:1.00:1.00:60:36.8:0:0:55:84:35:NM_000130.4(F5) c.=,NM_000130.4(F5) c.=:0.99,0.99:0.978625,0.978625 1 169519254 . C . . NT END=169519877;NT GT ./. 1 169519417 rs7537742 G A 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5637,A/0.4363;Gene=F5/NM_000130.4/1;CC=c.1397-164C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:1:0:0:11:365:41.75:3.98:37.77:1.00:1.00:1.00:60:34.1:0:0:80:71:34:NM_000130.4(F5) c.1397-164C>T,NM_000130.4(F5) c.1397-164C>T:0.48,0.48:NOT_FOUND,NOT_FOUND 1 169519978 . C . . NT END=169521794;NT GT ./. 1 169521551 rs721161 C G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8051,G/0.1949;Gene=F5/NM_000130.4/1;CC=c.1296+244G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:100:11.89:11.89:0.00:1.00:1.00:0.00:60:60.0:0:0:88:61:12:NM_000130.4(F5) c.1296+244G>C,NM_000130.4(F5) c.1296+244G>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 169521553 rs2213868 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.03255,A/0.9675;Gene=F5/NM_000130.4/1;CC=c.1296+242C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:60.0:0:0:90:59:12:NM_000130.4(F5) c.1296+242C>T,NM_000130.4(F5) c.1296+242C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 169521973 . C . . NT END=169524419;NT GT ./. 1 169524586 . C . . NT END=169525883;NT GT ./. 1 169526106 . C . . NT END=169528390;NT GT ./. 1 169528535 . C . . NT END=169529791;NT GT ./. 1 169530005 . C . . NT END=169541458;NT GT ./. 1 169541582 . C . . NT END=169551668;NT GT ./. 1 169551761 . C . . NT END=169555466;NT GT ./. 1 169555367 rs372224504 TA T 28 idl,rn VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=52;Gene=F5/NM_000130.4/1;CC=c.158+99delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,TA,I,T:57:60:5:14:1,40,4,12:11,1126,160,412:-0.10,0.00,9.02,28.30:-0.10,0.00,9.02,28.30:0.00,0.00,0.00,0.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00:60,60,60,60:40.0,20.0,20.0,6.9:0,0,1,2:0,0,0,0:66,64,15,46:85,83,136,105:0,36,9,27:-,NM_000130.4(F5) c.158+99delT:-,NOT_FOUND:-,NOT_FOUND 1 169555625 . G . . NT END=169559385;NT GT ./. 1 169559441 . C . . NT END=169560663;NT GT ./. 1 169560695 . C . . NT END=169562842;NT GT ./. 1 169560727 rs397942211 T TA 8 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7316,TA/0.2684,TAA/.,TAAA/.,TAAAA/.,TAAAAA/.;DB;DBA=NA;PAF=NA;NP=18;NP=2;NP=317;PC=0.125;Gene=SELP/NM_003005.3/1;CC=c.2408-34dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:T,TA,D:19:12:3:2:14,3,2:385,100,65:0.00,7.99,4.83:0.00,1.02,1.01:0.00,6.98,3.82:0.00,0.51,0.00:0.00,0.81,0.00:0.00,0.86,0.00:60,60,60:8.6,4.0,12.5:0,0,0:0,0,0:117,120,92:28,24,53:22,9,39:-,NM_003005.3(SELP) c.2408-34_2408-33insT:-,NOT_FOUND:-,NOT_FOUND 1 169562963 . C . . NT END=169563929;NT GT ./. 1 169564116 . C . . NT END=169565162;NT GT ./. 1 169565373 . C . . NT END=169566228;NT GT ./. 1 169566415 . C . . NT END=169572263;NT GT ./. 1 169572450 . C . . NT END=169576186;NT GT ./. 1 169572545 rs60786797 C G 37 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8013,G/0.1987;DB;DBA=NA;PAF=NA;NP=1;NP=220;NP=3;NP=6;Gene=SELP/NM_003005.3/1;CC=c.1520-96G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,G,I,D:23:10:4:2:7,12,3,1:208,376,135,61:0.00,37.50,8.48,2.36:0.00,6.31,1.26,1.19:0.00,31.18,7.22,1.17:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:42.3,65.1,26.7,73.0:0,2,1,1:0,0,0,0:125,104,53,94:26,39,96,56:14,17,30,1:-,NM_003005.3(SELP) c.1520-96G>C:-,NOT_FOUND:-,NOT_FOUND 1 169576373 . C . . NT END=169578741;NT GT ./. 1 169578928 . C . . NT END=169580729;NT GT ./. 1 169580916 . C . . NT END=169581454;NT GT ./. 1 169581641 . C . . NT END=169582166;NT GT ./. 1 169582353 . C . . NT END=169582823;NT GT ./. 1 169582932 . C . . NT END=169586265;NT GT ./. 1 169586220 . G GT 16 idl,rn VT=INS;SST=Single;DP=78;NP=1;NP=2;PC=0.001;Gene=SELP/NM_003005.3/1;CC=c.481+45dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:G,GT,D:77:69:9:5:64,8,5:2029,269,155:0.00,16.41,10.09:0.00,12.23,9.34:0.00,4.18,0.75:0.00,0.93,0.00:0.00,1.00,0.00:0.00,0.91,0.00:60,60,60:13.0,8.9,8.0:0,1,0:0,0,0:37,26,20:111,104,131:27,20,7:-,NM_003005.3(SELP) c.481+45_481+46insA:-,NOT_FOUND:-,NOT_FOUND 1 169586653 . C . . NT END=169588366;NT GT ./. 1 169588458 . C . . NT END=169599309;NT GT ./. 1 169599313 . C . . NT END=169660924;NT GT ./. 1 169660944 . C . . NT END=169665675;NT GT ./. 1 169665695 . C . . NT END=169670700;NT GT ./. 1 169670830 . C . . NT END=169672395;NT GT ./. 1 169672582 . C . . NT END=169673708;NT GT ./. 1 169672595 rs544690924 G A 8 idl,nt VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.5675,A/0.4283;DB;DBA=NA;PAF=G/0.5675,GA/0.004193,GAAAAAA/.;Gene=SELL/NR_029467.1/0;VC=NonCoding;Gene=SELL/NM_000655.4/1;CC=c.806-14C>T;VC=Intron;DM=SELL/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:A,G,I,D:54:20:5:7:6,42,4,2:120,1273,149,165:7.23,0.00,7.67,4.09:-0.52,0.00,1.98,1.04:7.75,0.00,5.70,3.05:0.00,0.00,0.52,0.00:0.00,0.00,0.63,0.00:0.00,0.00,0.90,0.00:60,60,60,60:118.5,17.6,95.0,21.5:0,0,1,3:0,0,0,0:88,105,76,78:63,43,75,73:33,22,7,27:NM_000655.4(SELL) c.806-14C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 169673895 . C . . NT END=169676482;NT GT ./. 1 169676591 . C . . NT END=169677557;NT GT ./. 1 169677998 . g . . NT END=169679576;NT GT ./. 1 169679659 . C . . NT END=169680636;NT GT ./. 1 169680679 . T . . NT END=169694884;NT GT ./. 1 169694943 . C . . NT END=169695047;NT GT ./. 1 169695070 . C . . NT END=169695839;NT GT ./. 1 169695948 . C . . NT END=169696489;NT GT ./. 1 169696667 . C . . NT END=169696879;NT GT ./. 1 169697069 . C . . NT END=169697198;NT GT ./. 1 169697388 . C . . NT END=169698326;NT GT ./. 1 169698516 . C . . NT END=169698628;NT GT ./. 1 169698815 . C . . NT END=169699572;NT GT ./. 1 169699759 . C . . NT END=169700975;NT GT ./. 1 169699839 rs60632494 G GT 18 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.004;Gene=SELE/NM_000450.2/1;CC=c.530-82_530-81insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:G,GT:23:5:8:0:16,7:461,232:0.00,17.51:0.00,1.25:0.00,16.26:0.00,0.97:0.00,0.81:0.00,1.00:60,70:22.2,46.3:0,1:0,0:105,79:45,71:37,14:-,NM_000450.2(SELE) c.530-82_530-81insA:-,NOT_FOUND:-,NOT_FOUND 1 169701084 . C . . NT END=169701755;NT GT ./. 1 169702140 . C . . NT END=169702716;NT GT ./. 1 169702754 . G . . NT END=169761717;NT GT ./. 1 169762837 . C . . NT END=169764243;NT GT ./. 1 169764355 . A . . NT END=169764549;NT GT ./. 1 169764992 rs74231893 T TG 332 PASS VT=INS;SST=Single;DP=94;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;Gene=C1orf112/NM_018186.2/1;CC=c.-258_-257insG;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T,TG:94:53:91:0:1,2,91:24,62,2932:0.96,0.00,332.31:0.97,0.00,132.98:-0.01,0.00,199.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:32.0,0.0,5.5:1,0,0:0,0,0:8,149,63:142,1,83:0,1,34:NM_018186.2(C1orf112) c.-258_-257insG,NM_018186.2(C1orf112) c.-258_-257insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 169765125 . G . . NT END=169767997;NT GT ./. 1 169768100 . G . . NT END=169770023;NT GT ./. 1 169770113 . G . . NT END=169771761;NT GT ./. 1 169771867 . G . . NT END=169772309;NT GT ./. 1 169772451 . G . . NT END=169773215;NT GT ./. 1 169773382 . G . . NT END=169775144;NT GT ./. 1 169775230 . G . . NT END=169776931;NT GT ./. 1 169777071 . G . . NT END=169790819;NT GT ./. 1 169790901 . g . . NT END=169792548;NT GT ./. 1 169792614 . G . . NT END=169796191;NT GT ./. 1 169796341 . G . . NT END=169796851;NT GT ./. 1 169796982 . G . . NT END=169798403;NT GT ./. 1 169797067 . G GT 8 rn VT=INS;SST=Single;DP=36;NP=13;Gene=C1orf112/NM_018186.2/1;CC=c.1127+96dupT;VC=Intron;DM=C1orf112/DUF4487;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:G,GT:36:10:4:0:32,4:986,117:0.00,8.16:0.00,1.10:0.00,7.06:0.00,0.95:0.00,0.62:0.00,0.93:60,70:13.0,2.8:0,0:0,0:125,97:24,53:17,32:-,NM_018186.2(C1orf112) c.1127+86_1127+87insT:-,NOT_FOUND:-,NOT_FOUND 1 169798591 . G . . NT END=169799399;NT GT ./. 1 169799483 . G . . NT END=169799836;NT GT ./. 1 169799889 . G . . NT END=169801557;NT GT ./. 1 169801648 . G . . NT END=169806067;NT GT ./. 1 169806254 . G . . NT END=169811557;NT GT ./. 1 169811681 . G . . NT END=169812814;NT GT ./. 1 169812911 . G . . NT END=169816830;NT GT ./. 1 169816945 . G . . NT END=169818640;NT GT ./. 1 169818746 . G . . NT END=169819405;NT GT ./. 1 169819487 . G . . NT END=169820957;NT GT ./. 1 169821078 . G . . NT END=169821930;NT GT ./. 1 169822129 . A . . NT END=169822853;NT GT ./. 1 169822914 . C . . NT END=169823410;NT GT ./. 1 169824106 . C . . NT END=169824936;NT GT ./. 1 169825099 . C . . NT END=169828181;NT GT ./. 1 169828075 . ACTT A 28 nt VT=DEL;SST=Single;DP=25;NP=2;PC=0.082;Gene=SCYL3/NM_020423.6/0;CC=c.1312+104_1312+106delAAG;VC=Intron;Gene=SCYL3/NM_181093.3/1;CC=c.1312+104_1312+106delAAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTT,A:25:25:0:10:15,10:421,303:0.00,27.79:0.00,27.90:0.00,-0.11:0.00,1.00:0.00,1.00:0.00,0.60:60,60:24.7,12.1:0,0:0,0:62,40:86,110:39,19:-,NM_181093.3(SCYL3) c.1312+104_1312+106delAAG:-,NOT_FOUND:-,NOT_FOUND 1 169828354 . C . . NT END=169831753;NT GT ./. 1 169831939 . C . . NT END=169833509;NT GT ./. 1 169833650 . C . . NT END=169836036;NT GT ./. 1 169836115 . C . . NT END=169838068;NT GT ./. 1 169838181 . C . . NT END=169839395;NT GT ./. 1 169839499 . C . . NT END=169842836;NT GT ./. 1 169842894 . C . . NT END=169845118;NT GT ./. 1 169845233 . C . . NT END=169847774;NT GT ./. 1 169847961 . C . . NT END=169857816;NT GT ./. 1 169857982 . C . . NT END=169890816;NT GT ./. 1 169890923 . C . . NT END=169892206;NT GT ./. 1 169890933 rs518928 A G 178 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.04353,G/0.9565;PC=0.252;Gene=KIFAP3/NM_001204517.1/0;CC=c.2154-11T>C;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.2040-11T>C;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2142-11T>C;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2274-11T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:G:46:17:0:0:46:1561:178.01:38.72:139.30:1.00:1.00:1.00:70:41.2:0:0:107:43:25:NM_014970.3(KIFAP3) c.2274-11T>C,NM_014970.3(KIFAP3) c.2274-11T>C:0.95,0.95:0.92934,0.92934 1 169891056 rs397841367 CT C 30 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=669;Gene=KIFAP3/NM_001204517.1/0;CC=c.2154-135delA;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.2040-135delA;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2142-135delA;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2274-135delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:CT,C:13:0:0:10:3,10:95,288:0.00,30.49:0.00,0.00:0.00,30.49:0.00,1.00:0.00,0.00:0.00,1.00:60,70:35.3,36.2:0,0:0,0:148,118:3,32:2,15:-,NM_014970.3(KIFAP3) c.2274-135delA:-,NOT_FOUND:-,NOT_FOUND 1 169892117 rs576225 C T 25 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.04393,T/0.9561;Gene=KIFAP3/NM_001204517.1/0;CC=c.2154-1195G>A;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.2040-1195G>A;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2142-1195G>A;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2274-1195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:221:25.44:23.45:1.99:1.00:1.00:1.00:60:33.3:0:0:40:111:27:NM_014970.3(KIFAP3) c.2274-1195G>A,NM_014970.3(KIFAP3) c.2274-1195G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 169892244 . C . . NT END=169923151;NT GT ./. 1 169892284 rs575147 T C 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.04353,C/0.9565;Gene=KIFAP3/NM_001204517.1/0;CC=c.2154-1362A>G;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.2040-1362A>G;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2142-1362A>G;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2274-1362A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:12:0:0:15:502:57.35:26.59:30.77:1.00:1.00:1.00:60:35.7:0:0:85:35:29:NM_014970.3(KIFAP3) c.2274-1362A>G,NM_014970.3(KIFAP3) c.2274-1362A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 169923041 rs386368697 G GT 25 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7508,GT/0.2492,GTT/.;DB;DBA=NA;PAF=G/0.7508,GT/0.2492;DB;DBA=NA;PAF=G/0.7508,GT/0.2492;NP=1596;Gene=KIFAP3/NM_001204517.1/0;CC=c.2153+110dupA;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.2039+110dupA;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2141+110dupA;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2273+110dupA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:G,GT:9:9:8:0:1,8:29,225:0.00,24.93:0.00,24.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.0,27.4:1,0:0,0:66,98:84,52:0,18:-,NM_014970.3(KIFAP3) c.2273+110_2273+111insA:-,0.3:-,NOT_FOUND 1 169923252 . C . . NT END=169930186;NT GT ./. 1 169929964 rs541711 T G 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.04293,G/0.9571;Gene=KIFAP3/NM_001204517.1/0;CC=c.2053+223A>C;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1939+223A>C;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2041+223A>C;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2173+223A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:271:31.77:31.77:0.00:1.00:1.00:0.00:60:80.5:0:0:57:94:21:NM_014970.3(KIFAP3) c.2173+223A>C,NM_014970.3(KIFAP3) c.2173+223A>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 169930049 rs542570 C T 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.04353,T/0.9565;Gene=KIFAP3/NM_001204517.1/0;CC=c.2053+138G>A;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1939+138G>A;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2041+138G>A;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2173+138G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:400:46.60:46.60:0.00:1.00:1.00:0.00:60:83.9:0:0:84:66:52:NM_014970.3(KIFAP3) c.2173+138G>A,NM_014970.3(KIFAP3) c.2173+138G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 169930051 rs615485 T C 57 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.04353,C/0.9565;Gene=KIFAP3/NM_001204517.1/0;CC=c.2053+136A>G;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1939+136A>G;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.2041+136A>G;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.2173+136A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:16:0:0:16:492:56.81:56.81:0.00:1.00:1.00:0.00:60:77.5:0:0:81:70:61:NM_014970.3(KIFAP3) c.2173+136A>G,NM_014970.3(KIFAP3) c.2173+136A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 169930377 . C . . NT END=169941653;NT GT ./. 1 169941740 . C . . NT END=169947225;NT GT ./. 1 169941761 rs511443 A T 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.04233,C/.,T/0.9577;PC=0.004;Gene=KIFAP3/NM_001204517.1/0;CC=c.1778-22T>A;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1664-22T>A;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1766-22T>A;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1898-22T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:11:0:0:20:629:72.34:24.85:47.49:1.00:1.00:1.00:60:42.5:0:0:96:49:16:NM_014970.3(KIFAP3) c.1898-22T>A,NM_014970.3(KIFAP3) c.1898-22T>A:0.95,0.95:0.930693,0.930693 1 169947146 rs397810221 C CA 13 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1875,CA/0.6979,CAA/0.1146;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1875,CA/0.6979;DB;DBA=NA;PAF=C/0.1875,CA/0.6979;NP=1;NP=1181;PC=0.004;Gene=KIFAP3/NM_001204517.1/0;CC=c.1777+79dupT;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1663+79dupT;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1765+79dupT;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1897+79dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,CA:6:8:6:0:2,4:58,190:0.00,12.80:0.00,12.80:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:69.0,18.0:0,2:0,0:121,79:29,72:24,45:-,NM_014970.3(KIFAP3) c.1897+79_1897+80insT:-,NOT_FOUND:-,NOT_FOUND 1 169947325 . C . . NT END=169951112;NT GT ./. 1 169951239 . C . . NT END=169951842;NT GT ./. 1 169951408 rs2273457 A T 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4241,T/0.5759;PC=0.038;Gene=KIFAP3/NM_001204517.1/0;CC=c.1553-170T>A;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1439-170T>A;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1541-170T>A;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1673-170T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:383:44.42:0.00:44.42:1.00:0.00:1.00:60:49.4:0:0:99:52:22:NM_014970.3(KIFAP3) c.1673-170T>A,NM_014970.3(KIFAP3) c.1673-170T>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 169951748 rs638486 A G 67 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.04213,G/0.9579;Gene=KIFAP3/NM_001204517.1/0;CC=c.1552+95T>C;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1438+95T>C;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1540+95T>C;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1672+95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:18:0:0:19:580:67.05:63.07:3.98:1.00:1.00:1.00:60:32.0:0:0:49:102:33:NM_014970.3(KIFAP3) c.1672+95T>C,NM_014970.3(KIFAP3) c.1672+95T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 169951997 rs33943686 C T 101 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.726,T/0.274;PC=0.990;Gene=KIFAP3/NM_001204517.1/0;CC=c.1398G>A;ProtCh=p.G466=;VC=Silent;Gene=KIFAP3/NM_001204514.1/0;CC=c.1284G>A;ProtCh=p.G428=;VC=Silent;Gene=KIFAP3/NM_001204516.1/0;CC=c.1386G>A;ProtCh=p.G462=;VC=Silent;Gene=KIFAP3/NM_014970.3/1;CC=c.1518G>A;ProtCh=p.G506=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:8:0:0:28:874:100.71:21.22:79.49:1.00:1.00:1.00:60:34.6:0:0:116:23:26:NM_014970.3(KIFAP3) c.1518G>A (p.(=)),NM_014970.3(KIFAP3) c.1518G>A (p.(=)):0.32,0.32:0.249423,0.249423 1 169952009 . C . . NT END=169952410;NT GT ./. 1 169952385 rs2057249 G T 97 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.04173,T/0.9583;Gene=KIFAP3/NM_001204517.1/0;CC=c.1386+26C>A;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.1272+26C>A;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1374+26C>A;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1506+26C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:A,T:30:25:0:0:1,29:9,841:0.22,97.30:0.22,80.73:0.00,16.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:244.0,42.8:0,0:0,0:72,57:74,94:0,26:NM_014970.3(KIFAP3) c.1506+26C>A,NM_014970.3(KIFAP3) c.1506+26C>A:0.95,0.95:0.930242,0.930242 1 169952524 . C . . NT END=169953722;NT GT ./. 1 169953832 . C . . NT END=169961295;NT GT ./. 1 169961397 . C . . NT END=169985602;NT GT ./. 1 169967496 rs12739975 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9083,G/0.09165;PC=0.026;Gene=KIFAP3/NM_001204517.1/0;CC=c.1064-6100T>C;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.950-6100T>C;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1052-6100T>C;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1184-6100T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:163:19.11:15.08:4.03:1.00:1.00:1.00:60:67.0:0:0:60:89:48:NM_014970.3(KIFAP3) c.1184-6100T>C,NM_014970.3(KIFAP3) c.1184-6100T>C:0.12,0.12:NOT_FOUND,NOT_FOUND 1 169967522 rs71125219 GATAT G 13 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=68;Gene=KIFAP3/NM_001204517.1/0;CC=c.1064-6130_1064-6127delATAT;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.950-6130_950-6127delATAT;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1052-6130_1052-6127delATAT;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1184-6130_1184-6127delATAT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:6:0:6:4:178:12.70:9.50:3.20:0.93:0.93:0.91:60:112.5:2:0:54:82:28:NM_014970.3(KIFAP3) c.1184-6130_1184-6127delATAT,NM_014970.3(KIFAP3) c.1184-6130_1184-6127delATAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 169967540 rs3068648 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=103;PC=0.002;Gene=KIFAP3/NM_001204517.1/0;CC=c.1064-6144A>G;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.950-6144A>G;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.1052-6144A>G;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1184-6144A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:7:5:0:0:4,3:110,76:10.84,0.00:6.18,0.00:4.66,0.00:0.99,0.00:0.98,0.00:0.93,0.00:60,60:92.0,56.0:0,0:0,0:68,27:68,111:21,1:NM_014970.3(KIFAP3) c.1184-6144A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 169985766 . C . . NT END=169993558;NT GT ./. 1 169985796 rs16862933 A G 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.7676,G/0.2324,T/.;PC=0.065;Gene=KIFAP3/NM_001204517.1/0;CC=c.901-31T>C;VC=Intron;Gene=KIFAP3/NM_001204514.1/0;CC=c.787-31T>C;VC=Intron;Gene=KIFAP3/NM_001204516.1/0;CC=c.889-31T>C;VC=Intron;Gene=KIFAP3/NM_014970.3/1;CC=c.1021-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:8:0:0:24:744:85.79:14.60:71.19:1.00:1.00:1.00:60:36.9:0:0:101:46:22:NM_014970.3(KIFAP3) c.1021-31T>C,NM_014970.3(KIFAP3) c.1021-31T>C:0.28,0.28:0.209782,0.209782 1 169993738 . C . . NT END=170001026;NT GT ./. 1 170001126 . G . . NT END=170003512;NT GT ./. 1 170003638 . C . . NT END=170004594;NT GT ./. 1 170004695 . C . . NT END=170007430;NT GT ./. 1 170007573 . C . . NT END=170008373;NT GT ./. 1 170008430 . C . . NT END=170010817;NT GT ./. 1 170011044 . T . . NT END=170015852;NT GT ./. 1 170016008 . C . . NT END=170024445;NT GT ./. 1 170024578 . C . . NT END=170043576;NT GT ./. 1 170043883 . G . . NT END=170115248;NT GT ./. 1 170043904 rs522444 G C 289 nt VT=SNV;PN=G;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.1454,C/0.8546;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:26:0:0:75:2533:289.01:69.50:219.52:1.00:1.00:1.00:60:39.7:0:0:105:43:21:NM_014970.3(KIFAP3) c.-271-u25C>G,NM_014970.3(KIFAP3) c.-271-u25C>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 170115156 rs550297 G A 115 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5907,A/0.4093;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A,G:34:34:0:0:33,1:1013,13:115.22,0.00:105.76,0.00:9.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,126.0:0,0:0,0:49,146:102,5:30,0:NM_001136107.1(METTL11B) c.-61-u32G>A,NM_001136107.1(METTL11B) c.-61-u32G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 1 170115403 . G . . NT END=170129658;NT GT ./. 1 170129835 . G . . NT END=170135642;NT GT ./. 1 170135447 rs11461930 A AT 36 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3015,AT/0.6985;NP=29;PC=0.001;Gene=METTL11B/NM_001136107.1/1;CC=c.331-188_331-187insT;VC=Intron;DM=METTL11B/Methyltransf_PK;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,T,AT:15:15:12:0:2,1,12:38,11,325:0.00,0.45,35.71:0.00,0.45,35.71:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:40,60,40:104.0,41.0,31.4:0,1,0:0,0,0:88,133,22:63,17,128:60,0,19:-,NM_001136107.1(METTL11B) c.331-196_331-195insT:-,NOT_FOUND:-,NOT_FOUND 1 170135510 rs576572 T C 117 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2406,C/0.7594;PC=0.376;Gene=METTL11B/NM_001136107.1/1;CC=c.331-133T>C;VC=Intron;DM=METTL11B/Methyltransf_PK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:31:0:0:33:1016:117.29:106.21:11.08:1.00:1.00:1.00:60:44.4:0:0:38:113:25:NM_001136107.1(METTL11B) c.331-133T>C,NM_001136107.1(METTL11B) c.331-133T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 170135893 . G . . NT END=170136626;NT GT ./. 1 170136899 . A . . NT END=170501289;NT GT ./. 1 170197731 rs4233348 T G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:112:13.09:5.67:7.42:1.00:1.00:1.00:60:38.2:0:0:55:95:23:chr1 g.170197730T>G (intergenic),chr1 g.170197730T>G (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 170203595 rs143347768 AT A 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AT/0.88,A/0.12;NP=163;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:AT,A:4:3:0:2:2,2:60,67:0.00,6.45:0.00,1.19:0.00,5.26:0.00,0.51:0.00,0.89:0.00,0.79:60,60:56.5,18.0:0,0:0,0:111,90:20,61:29,22:-,chr1 g.170203596delT (intergenic):-,0.14:-,NOT_FOUND 1 170501385 rs7531125 A C 456 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=A/0.07248,C/0.9275;PC=1.000;Gene=LOC101928650/NR_125958.1/0;VC=NonCoding;Gene=GORAB/NM_001146039.1/0;CC=c.96A>C;ProtCh=p.G32=;VC=Silent;Gene=GORAB/NM_152281.2/1;CC=c.96A>C;ProtCh=p.G32=;VC=Silent;Gene=GORAB/NR_027397.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:120:72:0:0:119,1:3996,12:455.69,0.13:172.72,0.00:282.97,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,83.0:0,0:0,0:84,18:64,132:29,0:NM_152281.2(GORAB) c.=,NM_152281.2(GORAB) c.=:0.94,0.94:0.935491,0.935491 1 170501426 . G . . NT END=170508350;NT GT ./. 1 170501456 rs11578119 C T 68 nt VT=SNV;PN=T;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.8552,A/.,T/0.1448;Gene=LOC101928650/NR_125958.1/0;VC=NonCoding;Gene=GORAB/NM_001146039.1/0;CC=c.136+31C>T;VC=Intron;Gene=GORAB/NM_152281.2/1;CC=c.136+31C>T;VC=Intron;Gene=GORAB/NR_027397.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:80:25:0:0:1,52,1,26:11,1646,13,775:-0.12,0.00,-0.05,68.32:-0.07,0.00,-0.07,17.86:-0.06,0.00,0.02,50.47:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:113.0,37.1,206.0,60.4:0,0,0,0:0,0,0,0:55,111,9,110:85,39,141,40:0,25,0,16:-,NM_152281.2(GORAB) c.136+31C>T:-,0.19:-,0.274181 1 170501521 rs112197426 AC A 50 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=AC/0.8419,A/0.1581;NP=708;PC=0.001;Gene=LOC101928650/NR_125958.1/0;VC=NonCoding;Gene=GORAB/NM_001146039.1/0;CC=c.136+97delC;VC=Intron;Gene=GORAB/NM_152281.2/1;CC=c.136+97delC;VC=Intron;Gene=GORAB/NR_027397.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:34:5:0:18:16,18:483,521:0.00,50.47:0.00,4.94:0.00,45.53:0.00,1.00:0.00,0.97:0.00,1.00:60,60:34.8,32.8:0,0:0,0:110,96:40,54:32,32:-,NM_152281.2(GORAB) c.136+97delC:-,NOT_FOUND:-,NOT_FOUND 1 170508713 . G . . NT END=170511631;NT GT ./. 1 170511604 rs7538037 T C 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.6302,C/0.3698;PC=0.002;Gene=GORAB/NM_001146039.1/0;CC=c.495-28T>C;VC=Intron;Gene=GORAB/NM_152281.2/1;CC=c.495-28T>C;VC=Intron;Gene=GORAB/NR_027397.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:28:0:0:11,19:329,665:29.58,0.00:21.82,0.00:7.76,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:38.0,5.9:0,0:0,0:76,51:70,99:35,19:NM_152281.2(GORAB) c.495-28T>C,-:0.36,-:0.253462,- 1 170511734 . G . . NT END=170513845;NT GT ./. 1 170514229 rs12120764 G A 113 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.8572,A/0.1428;PC=0.001;Gene=GORAB/NM_001146039.1/0;CC=c.*239G>A;VC=3UTR;Gene=GORAB/NM_152281.2/1;CC=c.737+243G>A;VC=Intron;Gene=GORAB/NR_027397.1/0;VC=NonCoding;DM=GORAB/Transcrip_act GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:48:0:0:37,37:1174,1212:112.74,0.00:61.62,0.00:51.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,1.9:0,0:0,0:81,57:70,88:39,30:NM_152281.2(GORAB) c.737+243G>A,-:0.19,-:NOT_FOUND,- 1 170514931 . G . . NT END=170521155;NT GT ./. 1 170521604 . A . . NT END=170633359;NT GT ./. 1 170521650 rs7552922 T G 46 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.8029,G/0.1971;PC=0.001;Gene=GORAB/NM_152281.2/1;CC=c.*47T>G;VC=3UTR;Gene=GORAB/NR_027397.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:40:6:0:0:16,24:497,768:45.62,0.00:0.90,0.00:44.72,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:50.1,15.9:0,0:0,0:78,114:72,37:23,26:NM_152281.2(GORAB) c.*47T>G,-:0.14,-:0.167181,- 1 170633111 rs564020 T G 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=467;PC=0.225 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:162.0:0:0:53:98:28:NM_006902.3(PRRX1) c.-47-u202T>G,NM_006902.3(PRRX1) c.-47-u202T>G:1,1:NOT_FOUND,NOT_FOUND 1 170633119 rs563991 T G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=388;PC=0.240 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:60:162.0:0:0:61:90:28:NM_006902.3(PRRX1) c.-47-u194T>G,NM_006902.3(PRRX1) c.-47-u194T>G:1,1:NOT_FOUND,NOT_FOUND 1 170633142 rs645617 C G 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=518;PC=0.251 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:278:31.62:31.62:0.00:1.00:1.00:0.00:60:141.8:0:0:59:86:38:NM_006902.3(PRRX1) c.-47-u171C>G,NM_006902.3(PRRX1) c.-47-u171C>G:1,1:NOT_FOUND,NOT_FOUND 1 170633173 rs563216 A G 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:300:34.77:34.77:0.00:1.00:1.00:0.00:60:118.9:0:0:56:87:34:NM_006902.3(PRRX1) c.-47-u140A>G,NM_006902.3(PRRX1) c.-47-u140A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 170633186 rs11286665 AT A 18 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=AT/0.2554,A/0.7446;NP=3;PC=0.004;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:AT,A:9:11:0:8:3,6:90,227:0.00,17.65:0.00,17.65:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:176.0,143.2:0,2:0,0:138,42:13,109:7,18:-,NM_006902.3(PRRX1) c.-47-u126delT:-,NOT_FOUND:-,NOT_FOUND 1 170633601 . G . . NT END=170688866;NT GT ./. 1 170633896 rs659580 T C 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2308,C/0.7692;Gene=PRRX1/NM_006902.4/1;CC=c.241+296T>C;VC=Intron;Gene=PRRX1/NM_022716.3/0;CC=c.241+296T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:0:0:0:3,2:105,29:10.52,0.00:0.00,0.00:10.52,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:45.0,83.0:0,0:0,0:128,116:23,27:11,0:NM_006902.3(PRRX1) c.241+296T>C,-:0.72,-:NOT_FOUND,- 1 170675076 rs71125270 T TACACAC 12 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=38;NP=7;NP=7;NP=8;PC=0.013;Gene=PRRX1/NM_006902.4/1;CC=c.242-13758_242-13757insCACACA;VC=Intron;Gene=PRRX1/NM_022716.3/0;CC=c.242-13758_242-13757insCACACA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,T,TACACAC:6:5:5:1:1,1,4:29,32,149:2.47,0.00,12.07:-0.07,0.00,4.68:2.53,0.00,7.38:0.00,0.00,0.99:0.00,0.00,0.98:0.00,0.00,0.98:59,60,60:51.0,0.0,19.5:0,0,1:0,0,0:59,143,82:50,7,65:0,0,11:-,NM_006902.3(PRRX1) c.242-13791_242-13790insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 170689043 . G . . NT END=170695360;NT GT ./. 1 170695543 . G . . NT END=170699417;NT GT ./. 1 170699490 . G . . NT END=170705188;NT GT ./. 1 170705328 . G . . NT END=170914697;NT GT ./. 1 170774977 rs72226601 GCA G 8 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=80;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:GCA,G:6:4:0:3:3,3:108,87:0.00,8.32:0.00,1.14:0.00,7.19:0.00,0.73:0.00,0.51:0.00,0.96:60,60:0.0,3.7:0,0:0,0:72,34:34,117:21,7:-,chr1 g.170774978_170774979delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 170806151 rs567758036 TTGTG G,T 11 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:29:G,T:4:4:0:5:1,3:35,135:3.28,10.96:1.64,5.43:1.64,5.53:0.00,0.78:0.00,0.97:0.00,0.78:53,60:114.0,0.0:0,1:0,0:92,59:25,91:0,11:chr1 g.170806151_170806154delTTGT (intergenic),chr1 g.170806152_170806155delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 170914723 . G . . NT END=170916667;NT GT ./. 1 170916646 rs4656817 G T 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7496,T/0.2504;Gene=MROH9/NM_001163629.1/1;CC=c.26-22G>T;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.26-22G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:26:21:0:0:16,10:498,345:0.00,31.75:0.00,21.02:0.00,10.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,34.5:0,0:0,0:44,42:91,102:12,26:-,NM_001163629.1(C1orf129) c.26-22G>T:-,0.24:-,0.178035 1 170916715 . G . . NT END=170927601;NT GT ./. 1 170927615 rs17563089 A G 22 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.9453,G/0.05471;Gene=MROH9/NM_001163629.1/1;CC=c.86A>G;ProtCh=p.N29S;VC=Missense;Gene=MROH9/NM_025063.2/0;CC=c.86A>G;ProtCh=p.N29S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:17:0:0:17,7:524,245:0.00,21.56:0.00,10.43:0.00,11.12:0.00,0.97:0.00,0.99:0.00,0.98:60,60:15.2,43.3:0,0:0,0:47,59:93,92:19,28:-,NM_001163629.1(C1orf129) c.86A>G (p.Asn29Ser):-,0.06:-,0.08301 1 170927682 . G . . NT END=170928602;NT GT ./. 1 170928373 rs9426916 A G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9449,G/0.05511;PC=0.001;Gene=MROH9/NM_001163629.1/1;CC=c.153-230A>G;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.153-230A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:8:7:0:0:3,5:102,132:0.00,13.25:0.00,13.68:0.00,-0.43:0.00,0.97:0.00,1.00:0.00,0.75:60,60:11.3,72.4:0,0:0,0:12,47:139,103:3,20:-,NM_001163629.1(C1orf129) c.153-230A>G:-,0.05:-,NOT_FOUND 1 170928374 rs9426917 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9453,A/0.05471;PC=0.007;Gene=MROH9/NM_001163629.1/1;CC=c.153-229G>A;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.153-229G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:8:7:0:0:5,3:145,102:14.55,0.00:14.98,0.00:-0.43,0.00:0.97,0.00:1.00,0.00:0.75,0.00:60,60:72.4,11.3:0,0:0,0:48,13:102,138:20,3:NM_001163629.1(C1orf129) c.153-229G>A,-:0.05,-:NOT_FOUND,- 1 170928516 rs77715144 A AAAATAAAT 8 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.9455,AAAATAAAT/0.05451;DB;DBA=NA;PAF=A/0.9455,AAAATAAAT/0.05451;NP=16;PC=0.004;Gene=MROH9/NM_001163629.1/1;CC=c.153-64_153-63insTAAATAAA;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.153-64_153-63insTAAATAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,AAAATAAAT:22:19:4:0:18,4:592,105:0.00,7.88:0.00,3.64:0.00,4.25:0.00,0.70:0.00,0.95:0.00,0.56:60,60:15.7,7.5:0,0:0,0:76,44:74,104:38,14:-,NM_001163629.1(C1orf129) c.153-87_153-86insAAATAAAT:-,NOT_FOUND:-,NOT_FOUND 1 170928739 . G . . NT END=170931030;NT GT ./. 1 170931118 . G . . NT END=170934291;NT GT ./. 1 170931197 rs17563350 A G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9451,G/0.05491;Gene=MROH9/NM_001163629.1/1;CC=c.375+80A>G;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.375+80A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:7,11:221,337:0.00,33.69:0.00,0.00:0.00,33.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,54.6:0,0:0,0:120,123:31,28:28,21:-,NM_001163629.1(C1orf129) c.375+80A>G:-,0.06:-,NOT_FOUND 1 170931249 rs17563376 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9451,A/0.05491;Gene=MROH9/NM_001163629.1/1;CC=c.375+132G>A;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.375+132G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:A,G:8:0:0:0:4,4:109,134:10.39,0.00:0.00,0.00:10.39,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:85.0,0.0:0,0:0,0:89,119:60,32:7,11:NM_001163629.1(C1orf129) c.375+132G>A,-:0.06,-:NOT_FOUND,- 1 170934397 . G . . NT END=170940888;NT GT ./. 1 170939880 . A T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=0.007;Gene=MROH9/NM_001163629.1/1;CC=c.481-1009A>T;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.481-1009A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,T:4:2:0:0:2,2:71,68:0.00,6.55:0.00,-0.30:0.00,6.85:0.00,0.51:0.00,0.79:0.00,0.51:60,60:72.0,211.5:0,0:0,0:62,123:88,27:25,2:-,NM_001163629.1(C1orf129) c.481-1009A>T:-,NOT_FOUND:-,NOT_FOUND 1 170941025 . G . . NT END=170952562;NT GT ./. 1 170952676 . G . . NT END=170955701;NT GT ./. 1 170955852 . G . . NT END=170958995;NT GT ./. 1 170958886 rs61816055 T C 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.9321,C/0.06789;PC=0.007;Gene=MROH9/NM_001163629.1/1;CC=c.880-110T>C;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.880-110T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:24:0:0:17,10:523,335:52.67,0.00:44.87,0.00:7.81,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:45.6,15.4:0,0:0,0:32,44:117,106:28,34:NM_001163629.1(C1orf129) c.880-110T>C,-:0.08,-:NOT_FOUND,- 1 170959029 rs16863922 C T 77 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.7939,T/0.2061;Gene=MROH9/NM_001163629.1/1;CC=c.913C>T;ProtCh=p.L305=;VC=Silent;Gene=MROH9/NM_025063.2/0;CC=c.913C>T;ProtCh=p.L305=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:47:0:0:35,25:1161,830:0.00,77.24:0.00,41.82:0.00,35.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,55.7:0,0:0,0:61,67:90,84:40,38:-,NM_001163629.1(C1orf129) c.913C>T (p.(=)):-,0.21:-,0.255155 1 170959088 rs28634500 C T 89 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.7786,T/0.2214;Gene=MROH9/NM_001163629.1/1;CC=c.972C>T;ProtCh=p.C324=;VC=Silent;Gene=MROH9/NM_025063.2/0;CC=c.972C>T;ProtCh=p.C324=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:63:37:0:0:33,1,29:1137,9,934:0.00,-0.11,88.64:0.00,0.01,29.36:0.00,-0.12,59.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.5,65.0,53.4:0,0,0:0,0,0:69,105,75:81,33,76:20,0,35:-,NM_001163629.1(C1orf129) c.972C>T (p.(=)):-,0.22:-,0.268694 1 170959145 . G . . NT END=170961304;NT GT ./. 1 170959308 rs16863926 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7975,A/0.2025;Gene=MROH9/NM_001163629.1/1;CC=c.1028+164G>A;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.1028+164G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,G:13:0:0:0:5,8:166,253:15.23,0.00:0.00,0.00:15.23,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:33.2,13.1:0,0:0,0:99,99:52,52:6,21:NM_001163629.1(C1orf129) c.1028+164G>A,-:0.2,-:NOT_FOUND,- 1 170961471 . G . . NT END=170964529;NT GT ./. 1 170964673 . G . . NT END=170965647;NT GT ./. 1 170965681 rs9427213 T C 108 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.875,C/0.125;PC=0.756;Gene=MROH9/NM_001163629.1/1;CC=c.1371T>C;ProtCh=p.N457=;VC=Silent;Gene=MROH9/NM_025063.2/0;CC=c.1371T>C;ProtCh=p.N457=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:79:53:0:0:34,45:1157,1463:108.46,0.00:49.63,0.00:58.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,5.0:0,0:0,0:74,80:70,66:39,34:NM_001163629.1(C1orf129) c.1371T>C (p.(=)),-:0.13,-:0.143203,- 1 170965786 . G . . NT END=170967294;NT GT ./. 1 170966012 rs28588043 A G 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8752,G/0.1248;Gene=MROH9/NM_001163629.1/1;CC=c.1475+227A>G;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.1475+227A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:0:0:0:1,3:33,103:0.00,10.75:0.00,0.00:0.00,10.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,34.3:0,0:0,0:120,91:31,59:0,30:-,NM_001163629.1(C1orf129) c.1475+227A>G:-,0.13:-,NOT_FOUND 1 170967824 rs28496733 A C 97 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.8752,C/0.1248;PC=0.134;Gene=MROH9/NM_001163629.1/1;CC=c.1596+409A>C;VC=Intron;Gene=MROH9/NM_025063.2/0;CC=c.*283A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:70:39:0:0:38,32:1222,1028:0.00,97.10:0.00,40.72:0.00,56.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,34.9:0,0:0,0:104,96:37,47:21,34:-,NM_001163629.1(C1orf129) c.1596+409A>C:-,0.13:-,NOT_FOUND 1 170967948 . T . . NT END=170983257;NT GT ./. 1 170983015 rs146091250 TACACAC T 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;Gene=MROH9/NM_001163629.1/1;CC=c.1597-207_1597-202delCACACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TACACAC,T:4:3:0:3:1,3:34,87:0.00,9.15:0.00,6.70:0.00,2.45:0.00,0.85:0.00,0.99:0.00,0.83:60,60:27.0,19.0:0,0:0,0:109,26:41,124:0,19:-,NM_001163629.1(C1orf129) c.1597-242_1597-237delACACAC:-,NOT_FOUND:-,NOT_FOUND 1 170983396 . G . . NT END=170985303;NT GT ./. 1 170983601 rs200306246 CT C,CTT 10 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=18;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:5:CT,CTT,C:8:0:2:5:2,2,4:59,63,129:0.00,5.73,9.88:0.00,0.00,0.00:0.00,5.73,9.88:0.00,0.00,0.85:0.00,0.00,0.00:0.00,0.00,0.85:60,60,60:0.0,0.0,55.8:0,0,1:0,0,0:134,84,56:16,66,95:8,13,33:NM_001163629.1(C1orf129) c.1734+207delT,NM_001163629.1(C1orf129) c.1734+207dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 170985478 . G . . NT END=170993535;NT GT ./. 1 170985569 rs7882102 C T 68 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7841,T/0.2159;Gene=MROH9/NM_001163629.1/1;CC=c.1908+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:4:0:0:13,21:391,676:0.00,67.79:0.00,4.98:0.00,62.81:0.00,1.00:0.00,0.98:0.00,1.00:60,60:10.4,36.6:0,0:0,0:117,103:33,46:28,33:-,NM_001163629.1(C1orf129) c.1908+92C>T:-,0.19:-,NOT_FOUND 1 170985630 rs563443751 C CT 15 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=22;Gene=MROH9/NM_001163629.1/1;CC=c.1908+165dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,CT:14:0:5:0:9,5:300,168:0.00,15.22:0.00,0.00:0.00,15.22:0.00,0.90:0.00,0.00:0.00,0.90:60,60:31.3,43.2:0,0:0,0:133,100:18,51:13,2:-,NM_001163629.1(C1orf129) c.1908+153_1908+154insT:-,NOT_FOUND:-,NOT_FOUND 1 170993313 rs72710577 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9371,A/0.0629;Gene=MROH9/NM_001163629.1/1;CC=c.1909-223G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,G:4:4:0:0:3,1:76,26:8.01,0.00:8.01,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:48.7,0.0:0,0:0,0:58,119:93,32:4,0:NM_001163629.1(C1orf129) c.1909-223G>A,-:0.08,-:NOT_FOUND,- 1 170993441 rs568192239 T C 28 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9391,C/0.0609;NP=2;NP=67;Gene=MROH9/NM_001163629.1/1;CC=c.1909-95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:21:0:0:10,12:298,362:27.99,0.00:26.71,0.00:1.27,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:95.2,27.6:6,4:0,0:43,101:99,49:14,20:NM_001163629.1(C1orf129) c.1909-95T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 170993442 rs535081778 G GGTGTGTGTGT 7 idl,nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9992,A/0.0007987;Gene=MROH9/NM_001163629.1/1;CC=c.1909-93_1909-92insTGTGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:G,GGTGTGTGTGT:19:21:6:0:16,3:475,177:0.00,7.32:0.00,7.45:0.00,-0.13:0.00,0.48:0.00,0.90:0.00,0.41:60,60:40.8,210.0:5,3:0,0:102,35:42,113:22,2:-,NM_001163629.1(C1orf129) c.1909-94_1909-93insGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 170993444 rs397731451 G T 25 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.7698,T/0.2302;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;NP=3;NP=386;Gene=MROH9/NM_001163629.1/1;CC=c.1909-92G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,T,I:22:21:4:0:7,11,4:188,255,119:0.00,25.24,10.24:0.00,23.61,7.25:0.00,1.64,2.99:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.89,0.00:60,60,60:34.4,92.6,5.8:1,1,0:0,0,0:103,64,75:47,87,75:22,19,35:-,NM_001163629.1(C1orf129) c.1909-92G>T:-,NOT_FOUND:-,NOT_FOUND 1 170993689 . G . . NT END=170993789;NT GT ./. 1 170993907 . G . . NT END=170994458;NT GT ./. 1 170994562 . G . . NT END=171031272;NT GT ./. 1 170994761 rs16863950 G A 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9365,A/0.0635;Gene=MROH9/NM_001163629.1/1;CC=c.2281+200G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,G:8:0:0:0:7,1:233,34:25.33,0.00:0.00,0.00:25.33,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.7,0.0:0,0:0,0:68,105:83,44:22,0:NM_001163629.1(C1orf129) c.2281+200G>A,-:0.08,-:NOT_FOUND,- 1 171031336 . G . . NT END=171033239;NT GT ./. 1 171033482 . A . . NT END=171061799;NT GT ./. 1 171061932 . G . . NT END=171072925;NT GT ./. 1 171061990 rs2064074 A G 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.527,G/0.473;Gene=FMO3/NM_001002294.2/1;CC=c.132+59A>G;VC=Intron;Gene=FMO3/NM_006894.5/0;CC=c.132+59A>G;VC=Intron;DM=FMO3/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:12:0:0:22,16:666,561:0.00,52.52:0.00,7.89:0.00,44.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,39.9:0,0:0,0:115,81:35,68:21,32:-,NM_001002294.2(FMO3) c.132+59A>G:-,0.45:-,NOT_FOUND 1 171073115 . G . . NT END=171076815;NT GT ./. 1 171076966 rs2266782 G A 88 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=in-clinvar;PAF=G/0.6522,A/0.3478;Gene=FMO3/NM_001002294.2/1;CC=c.472G>A;ProtCh=p.E158K;VC=Missense;Gene=FMO3/NM_006894.5/0;CC=c.472G>A;ProtCh=p.E158K;VC=Missense;DM=FMO3/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:39:0:0:30,38:937,1213:87.70,0.00:37.65,0.00:50.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.6,10.3:0,0:0,0:101,85:46,63:23,27:NM_001002294.2(FMO3) c.472G>A (p.Glu158Lys),-:0.35,-:0.429033,- 1 171076979 . G . . NT END=171077219;NT GT ./. 1 171077198 rs1920149 G A 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.4615,A/0.5385;Gene=FMO3/NM_001002294.2/1;CC=c.485-22G>A;VC=Intron;Gene=FMO3/NM_006894.5/0;CC=c.485-22G>A;VC=Intron;DM=FMO3/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:56:0:0:23,43:696,1444:62.02,0.00:56.09,0.00:5.93,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:34.1,5.9:0,0:0,0:52,39:87,112:30,28:NM_001002294.2(FMO3) c.485-22G>A,-:0.52,-:0.54644,- 1 171077363 . G . . NT END=171079938;NT GT ./. 1 171077372 rs2066534 C G 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.8011,A/.,G/0.1989,T/.;PC=0.014;Gene=FMO3/NM_001002294.2/1;CC=c.627+10C>G;VC=Intron;Gene=FMO3/NM_006894.5/0;CC=c.627+10C>G;VC=Intron;DM=FMO3/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:97:50:0:0:53,43,1:1662,1418,20:0.00,133.65,0.37:0.00,58.16,0.53:0.00,75.49,-0.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.4,37.9,20.0:0,0,0:0,0,0:101,86,91:50,63,60:21,20,0:-,NM_001002294.2(FMO3) c.627+10C>G:-,0.17:-,0.2332 1 171080139 . G . . NT END=171083146;NT GT ./. 1 171083503 . G . . NT END=171085347;NT GT ./. 1 171085421 . G . . NT END=171086239;NT GT ./. 1 171086583 . T . . NT END=171154852;NT GT ./. 1 171154985 . G . . NT END=171162473;NT GT ./. 1 171155103 rs6657314 C T 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.3458,T/0.6542;Gene=FMO2/NM_001301347.1/0;CC=c.-386+605C>T;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.132+119C>T;VC=Intron;DM=FMO2/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:1:0:0:13,14:384,458:0.00,44.40:0.00,-0.16:0.00,44.55:0.00,1.00:0.00,0.68:0.00,1.00:60,60:10.2,47.8:0,0:0,0:92,80:59,70:35,39:-,NM_001460.2(FMO2) c.132+119C>T:-,0.6:-,NOT_FOUND 1 171162663 . G . . NT END=171165787;NT GT ./. 1 171162879 rs12730305 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4107,A/0.5893;Gene=FMO2/NM_001301347.1/0;CC=c.-197+217G>A;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.321+217G>A;VC=Intron;DM=FMO2/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:10:0:0:0:7,3:225,101:23.19,0.00:0.00,0.00:23.19,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:63.3,4.0:0,0:0,0:133,105:18,46:10,35:NM_001460.2(FMO2) c.321+217G>A,-:0.56,-:NOT_FOUND,- 1 171165661 rs7516877 A G 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.8834,G/0.1166;PC=0.001;Gene=FMO2/NM_001301347.1/0;CC=c.-196-127A>G;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.322-127A>G;VC=Intron;DM=FMO2/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G:21:21:0:0:6,15:195,473:0.00,48.98:0.00,48.98:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.0,44.2:0,0:0,0:52,75:99,76:25,24:-,NM_001460.2(FMO2) c.322-127A>G:-,0.11:-,NOT_FOUND 1 171165951 . G . . NT END=171168484;NT GT ./. 1 171168302 rs2205723 G C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.4107,C/0.5893;Gene=FMO2/NM_001301347.1/0;CC=c.-34+2352G>C;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.485-183G>C;VC=Intron;DM=FMO2/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,G:17:17:0:0:4,13:143,408:12.19,0.00:12.19,0.00:0.00,0.00:0.74,0.00:0.74,0.00:0.00,0.00:60,60:35.8,5.2:0,0:0,0:67,56:81,92:37,41:NM_001460.2(FMO2) c.485-183G>C,-:0.55,-:NOT_FOUND,- 1 171168379 rs5778696 CA C 49 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=CA/0.8836,C/0.1164;DB;DBA=NA;PAF=CA/0.8836,C/0.1164;NP=586;Gene=FMO2/NM_001301347.1/0;CC=c.-34+2432delA;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.485-103delA;VC=Intron;DM=FMO2/FMO-like;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,C:38:35:0:17:1,20,17:24,671,521:1.08,0.00,49.11:1.11,0.00,41.08:-0.03,0.00,8.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:243.0,4.9,11.0:0,0,0:0,0,0:44,33,38:107,117,111:0,21,26:-,NM_001460.2(FMO2) c.485-105delA:-,NOT_FOUND:-,NOT_FOUND 1 171168545 rs2307492 T C 130 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.8834,C/0.1166;PC=0.133;Gene=FMO2/NM_001301347.1/0;CC=c.-34+2595T>C;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.545T>C;ProtCh=p.F182S;VC=Missense;DM=FMO2/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:90:63:0:0:41,49:1373,1533:129.94,0.00:74.29,0.00:55.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.6,23.9:0,0:0,0:56,60:92,86:46,29:NM_001460.2(FMO2) c.545T>C (p.Phe182Ser),-:0.11,-:0.123943,- 1 171168585 rs2020861 A G 143 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.4107,G/0.5893;Gene=FMO2/NM_001301347.1/0;CC=c.-34+2635A>G;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.585A>G;ProtCh=p.S195=;VC=Silent;DM=FMO2/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:102:65:0:0:53,49:1769,1504:0.00,143.03:0.00,74.84:0.00,68.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,53.7:0,0:0,0:76,38:74,105:29,20:-,NM_001460.2(FMO2) c.585A>G (p.(=)):-,0.48:-,0.502845 1 171168628 . G . . NT END=171173003;NT GT ./. 1 171168804 rs2075987 A C 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.4105,C/0.5895;Gene=FMO2/NM_001301347.1/0;CC=c.-34+2854A>C;VC=Intron;Gene=FMO2/NM_001460.4/1;CC=c.627+177A>C;VC=Intron;DM=FMO2/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:25:0:0:0:14,11:420,354:0.00,33.22:0.00,0.00:0.00,33.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.0,45.2:0,0:0,0:72,89:78,51:30,40:-,NM_001460.2(FMO2) c.627+177A>C:-,0.55:-,NOT_FOUND 1 171173204 . G . . NT END=171174417;NT GT ./. 1 171174774 . G . . NT END=171176856;NT GT ./. 1 171176930 . G . . NT END=171177932;NT GT ./. 1 171178093 . T . . NT END=171227226;NT GT ./. 1 171178152 rs2020869 A G 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.8193,G/0.1807;PC=0.026;Gene=FMO2/NM_001301347.1/0;CC=c.816A>G;ProtCh=p.K272=;VC=Silent;Gene=FMO2/NM_001460.4/1;CC=c.1476A>G;ProtCh=p.K492=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:14:0:0:26,17:770,548:0.00,50.38:0.00,16.85:0.00,33.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,35.7:0,0:0,0:104,83:40,53:33,35:-,NM_001460.2(FMO2) c.*60A>G:-,0.18:-,NOT_FOUND 1 171227216 rs10912675 T C 184 nt VT=SNV;PN=A;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.5807,C/0.4193;Gene=FMO1/NM_001282693.1/0;CC=c.-6-5T>C;VC=Intron;Gene=FMO1/NM_001282694.1/0;CC=c.-6-5T>C;VC=Intron;Gene=FMO1/NM_002021.2/1;CC=c.-6-5T>C;VC=Intron;Gene=FMO1/NM_001282692.1/0;CC=c.2T>C;ProtCh=p.M1?;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:113:97:0:0:58,55:1903,1811:183.94,0.00:132.12,0.00:51.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,1.9:0,0:0,0:61,40:88,103:39,27:NM_002021.1(FMO1) c.-6-5T>C,-:0.37,-:0.413271,- 1 171227359 . G . . NT END=171236681;NT GT ./. 1 171236871 . G . . NT END=171239645;NT GT ./. 1 171239693 . CT C 21 idl,rn VT=DEL;SST=Single;DP=54;PC=1.000;Gene=FMO1/NM_001282693.1/0;CC=c.321+2835delT;VC=Intron;Gene=FMO1/NM_001282694.1/0;CC=c.133-4780delT;VC=Intron;Gene=FMO1/NM_002021.2/1;CC=c.321+2835delT;VC=Intron;Gene=FMO1/NM_001282692.1/0;CC=c.333+2835delT;VC=Intron;DM=FMO1/FMO-like;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:CT,I,C:52:40:7:10:37,7,8:1150,218,326:0.00,16.71,20.72:0.00,10.40,10.48:0.00,6.31,10.23:0.00,0.00,0.96:0.00,0.00,0.99:0.00,0.00,0.98:60,60,60:17.6,20.7,14.9:0,0,2:0,0,0:67,93,42:73,57,109:29,31,34:-,NM_002021.1(FMO1) c.321+2824delT:-,NOT_FOUND:-,NOT_FOUND 1 171239885 . G . . NT END=171244484;NT GT ./. 1 171239982 rs2421804 A G 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8644,G/0.1356;PC=1.000;Gene=FMO1/NM_001282693.1/0;CC=c.321+3112A>G;VC=Intron;Gene=FMO1/NM_001282694.1/0;CC=c.133-4503A>G;VC=Intron;Gene=FMO1/NM_002021.2/1;CC=c.321+3112A>G;VC=Intron;Gene=FMO1/NM_001282692.1/0;CC=c.333+3112A>G;VC=Intron;DM=FMO1/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:2:0:0:7,10:217,299:0.00,29.61:0.00,3.46:0.00,26.15:0.00,1.00:0.00,0.86:0.00,1.00:60,60:3.7,43.6:0,0:0,0:106,128:45,22:37,7:-,NM_002021.1(FMO1) c.321+3112A>G:-,0.14:-,NOT_FOUND 1 171244648 . G . . NT END=171247867;NT GT ./. 1 171244759 rs2076320 A C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8452,C/0.1548,T/.;PC=0.002;Gene=FMO1/NM_001282693.1/0;CC=c.484+112A>C;VC=Intron;Gene=FMO1/NM_001282694.1/0;CC=c.295+112A>C;VC=Intron;Gene=FMO1/NM_002021.2/1;CC=c.484+112A>C;VC=Intron;Gene=FMO1/NM_001282692.1/0;CC=c.496+112A>C;VC=Intron;DM=FMO1/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,C:13:0:0:0:8,5:267,145:0.00,13.12:0.00,0.00:0.00,13.12:0.00,0.91:0.00,0.00:0.00,0.91:60,60:6.6,38.6:0,0:0,0:124,125:26,24:15,17:-,NM_002021.1(FMO1) c.484+112A>C:-,0.17:-,NOT_FOUND 1 171248011 . G . . NT END=171249924;NT GT ./. 1 171250125 . G . . NT END=171251116;NT GT ./. 1 171251473 . G . . NT END=171252282;NT GT ./. 1 171252356 . G . . NT END=171254340;NT GT ./. 1 171254209 rs16864339 G A 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8838,A/0.1162;PC=0.027;Gene=FMO1/NM_001282693.1/0;CC=c.1257-132G>A;VC=Intron;Gene=FMO1/NM_001282694.1/0;CC=c.1068-132G>A;VC=Intron;Gene=FMO1/NM_002021.2/1;CC=c.1257-132G>A;VC=Intron;Gene=FMO1/NM_001282692.1/0;CC=c.1269-132G>A;VC=Intron;DM=FMO1/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,G:13:13:0:0:7,6:230,178:22.45,0.00:22.45,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:39.3,36.0:0,0:0,0:41,28:110,122:26,25:NM_002021.1(FMO1) c.1257-132G>A,-:0.12,-:NOT_FOUND,- 1 171254685 . T . . NT END=171288964;NT GT ./. 1 171254794 rs12954 C T 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.844,T/0.156;Gene=FMO1/NM_001282693.1/0;CC=c.*111C>T;VC=3UTR;Gene=FMO1/NM_001282694.1/0;CC=c.*111C>T;VC=3UTR;Gene=FMO1/NM_002021.2/1;CC=c.*111C>T;VC=3UTR;Gene=FMO1/NM_001282692.1/0;CC=c.*111C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,G,T:11:0:0:0:6,1,4:182,8,108:0.00,0.12,9.76:0.00,0.00,0.00:0.00,0.12,9.76:0.00,0.00,0.82:0.00,0.00,0.00:0.00,0.00,0.82:60,60,60:34.2,111.0,40.2:0,0,0:0,0,0:125,17,89:24,134,61:19,0,25:-,NM_002021.1(FMO1) c.*111C>T:-,0.17:-,NOT_FOUND 1 171254890 rs7877 C T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5715,T/0.4285;PC=0.078;Gene=FMO1/NM_001282693.1/0;CC=c.*207C>T;VC=3UTR;Gene=FMO1/NM_001282694.1/0;CC=c.*207C>T;VC=3UTR;Gene=FMO1/NM_002021.2/1;CC=c.*207C>T;VC=3UTR;Gene=FMO1/NM_001282692.1/0;CC=c.*207C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:6:0:0:0:3,3:107,84:0.00,8.02:0.00,0.00:0.00,8.02:0.00,0.73:0.00,0.00:0.00,0.73:60,60:15.7,79.0:0,0:0,0:41,112:108,38:4,1:-,NM_002021.1(FMO1) c.*207C>T:-,0.39:-,NOT_FOUND 1 171289097 . G . . NT END=171292142;NT GT ./. 1 171292332 . G . . NT END=171293276;NT GT ./. 1 171293440 . G . . NT END=171300778;NT GT ./. 1 171300922 . G . . NT END=171301847;NT GT ./. 1 171300959 rs2294482 T C 89 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.7155,C/0.2845;Gene=FMO4/NM_002022.2/1;CC=c.627+38T>C;VC=Intron;DM=FMO4/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:20:0:0:29,27:920,780:89.02,0.00:17.31,0.00:71.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.0,16.9:0,0:0,0:106,94:44,41:33,20:NM_002022.1(FMO4) c.627+38T>C,-:0.3,-:0.204829,- 1 171301033 rs2294483 C G 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4339,G/0.5661;Gene=FMO4/NM_002022.2/1;CC=c.627+112C>G;VC=Intron;DM=FMO4/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:0:0:0:11,14:278,454:0.00,44.70:0.00,0.00:0.00,44.70:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.1,67.9:0,0:0,0:98,112:50,38:18,15:-,NM_002022.1(FMO4) c.627+112C>G:-,0.53:-,NOT_FOUND 1 171301043 rs71103398 G GA 25 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6304,GA/0.3696;DB;DBA=NA;PAF=G/0.6304,GA/0.3696;NP=432;Gene=FMO4/NM_002022.2/1;CC=c.627+134dupA;VC=Intron;DM=FMO4/FMO-like;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:23:0:10:0:14,9:449,304:0.00,24.81:0.00,0.00:0.00,24.81:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.6,69.0:0,1:0,0:113,115:34,35:31,10:-,NM_002022.1(FMO4) c.627+122_627+123insA:-,NOT_FOUND:-,NOT_FOUND 1 171301882 rs61747501 T A 61 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.9984,A/0.001597;NP=29;Gene=FMO4/NM_002022.2/1;CC=c.662T>A;ProtCh=p.L221H;VC=Missense;DM=FMO4/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:52:38:0:0:21,31:665,1036:61.27,0.00:30.53,0.00:30.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,14.4:0,0:0,0:66,60:85,87:32,36:NM_002022.1(FMO4) c.662T>A (p.Leu221His),-:0.0027,-:0.003537,- 1 171302048 . G . . NT END=171303549;NT GT ./. 1 171302094 rs4140632 A C 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.4123,C/0.5877;Gene=FMO4/NM_002022.2/1;CC=c.827+47A>C;VC=Intron;DM=FMO4/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:35:12:0:0:14,21:440,642:0.00,63.92:0.00,12.84:0.00,51.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.6,53.4:0,0:0,0:91,90:50,60:28,43:-,NM_002022.1(FMO4) c.827+47A>C:-,0.55:-,0.56201 1 171303903 . G . . NT END=171306494;NT GT ./. 1 171303925 rs3820170 C T 61 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.4583,T/0.5417;Gene=FMO4/NM_002022.2/1;CC=c.1180+23C>T;VC=Intron;DM=FMO4/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:8:0:0:14,20:444,619:0.00,61.43:0.00,6.33:0.00,55.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,45.1:0,0:0,0:109,117:41,33:11,19:-,NM_002022.1(FMO4) c.1180+23C>T:-,0.51:-,0.49754 1 171306565 . G . . NT END=171310551;NT GT ./. 1 171308832 rs2223477 A G 114 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.5403,G/0.4597;PC=1.000;Gene=FMO4/NM_002022.2/1;CC=c.1251-1720A>G;VC=Intron;Gene=TOP1P1/NR_002719.2/0;VC=NonCoding;DM=FMO4/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:38:0:0:41,37:1398,1201:0.00,114.30:0.00,54.24:0.00,60.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,46.1:0,0:0,0:70,86:81,55:34,28:-,NR_002719.2(TOP1P1) n.798A>G:-,0.42:-,NOT_FOUND 1 171309078 rs12057885 C G 70 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5403,G/0.4597;PC=1.000;Gene=FMO4/NM_002022.2/1;CC=c.1251-1474C>G;VC=Intron;Gene=TOP1P1/NR_002719.2/0;VC=NonCoding;DM=FMO4/FMO-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:30:15:0:0:9,21:274,678:0.00,69.84:0.00,22.61:0.00,47.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,39.5:0,0:0,0:115,105:36,44:9,26:-,NR_002719.2(TOP1P1) n.1044C>G:-,0.42:-,NOT_FOUND 1 171310979 . A . . NT END=171481227;NT GT ./. 1 171311003 rs1042772 A C 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.4245,C/0.5755;Gene=FMO4/NM_002022.2/1;CC=c.*25A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:48:20:0:0:22,25,1:694,799,13:0.00,77.68,0.13:0.00,33.11,-0.05:0.00,44.57,0.19:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.3,41.4,82.0:0,0,0:0,0,0:92,102,7:56,49,144:27,21,0:-,NM_002022.1(FMO4) c.=:-,0.51:-,0.546988 1 171363179 rs4916376 A G 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3317,G/0.6683;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:271:30.91:25.30:5.62:1.00:1.00:1.00:60:68.8:0:0:23:119:8:chr1 g.171363178A>G (intergenic),chr1 g.171363178A>G (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 1 171363180 rs4916377 G C 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3317,C/0.6683;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:273:31.12:25.15:5.97:1.00:1.00:1.00:60:70.2:0:0:30:117:14:chr1 g.171363179G>C (intergenic),chr1 g.171363179G>C (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 1 171481340 . G . . NT END=171482133;NT GT ./. 1 171481958 rs2294290 T C 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8339,C/0.1661;PC=0.168;Gene=PRRC2C/NM_015172.3/1;CC=c.113-182T>C;VC=Intron;DM=PRRC2C/BAT2_N;DM=PRRC2C/BAT2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:C,T:13:13:0:0:4,9:139,298:12.32,0.00:12.32,0.00:0.00,0.00:0.79,0.00:0.79,0.00:0.00,0.00:60,60:38.8,6.0:0,0:0,0:79,52:71,99:8,25:NM_015172.3(PRRC2C) c.113-182T>C,-:0.22,-:NOT_FOUND,- 1 171482312 . G . . NT END=171483674;NT GT ./. 1 171483785 . G . . NT END=171484872;NT GT ./. 1 171484999 . G . . NT END=171486729;NT GT ./. 1 171486954 . G . . NT END=171491315;NT GT ./. 1 171487092 rs80115932 TG T 56 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=TG/0.5709,T/0.4291;NP=355;PC=0.001;Gene=PRRC2C/NM_015172.3/1;CC=c.744+141delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:TG,T:17:0:0:16:1,16:32,502:0.00,56.17:0.00,0.00:0.00,56.17:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,7.6:0,0:0,0:150,102:1,48:0,16:NM_015172.3(PRRC2C) c.744+140delG,NM_015172.3(PRRC2C) c.744+140delG:0.46,0.46:NOT_FOUND,NOT_FOUND 1 171491264 rs3736679 T A 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4696,A/0.5304;Gene=PRRC2C/NM_015172.3/1;CC=c.745-52T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:11:0:0:13:388:44.99:32.42:12.57:1.00:1.00:1.00:60:50.1:0:0:51:95:36:NM_015172.3(PRRC2C) c.745-52T>A,NM_015172.3(PRRC2C) c.745-52T>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 171491399 . G . . NT END=171492359;NT GT ./. 1 171492494 . G . . NT END=171492573;NT GT ./. 1 171492662 . G . . NT END=171493959;NT GT ./. 1 171494105 . G . . NT END=171496929;NT GT ./. 1 171496752 rs10913176 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1901,G/0.8099;PC=0.005;Gene=PRRC2C/NM_015172.3/1;CC=c.1195-178A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:226:26.38:26.38:0.00:1.00:1.00:0.00:60:38.6:0:0:53:93:16:NM_015172.3(PRRC2C) c.1195-178A>G,NM_015172.3(PRRC2C) c.1195-178A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 171496895 rs10753126 A G 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.1891,G/0.8109;PC=0.052;Gene=PRRC2C/NM_015172.3/1;CC=c.1195-35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:15:0:0:22:726:83.05:44.43:38.61:1.00:1.00:1.00:60:48.5:0:0:54:94:24:NM_015172.3(PRRC2C) c.1195-35A>G,NM_015172.3(PRRC2C) c.1195-35A>G:0.82,0.82:0.802058,0.802058 1 171496984 . G . . NT END=171501481;NT GT ./. 1 171501776 rs374981644 C T 170 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=2;PC=0.834;Gene=PRRC2C/NM_015172.3/1;CC=c.1543C>T;ProtCh=p.R515C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:126:76:0:0:65,1,60:1994,11,1794:0.00,-0.12,170.41:0.00,-0.01,69.56:0.00,-0.11,100.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.4,176.0,39.4:0,0,0:0,0,0:68,96,66:79,54,82:40,0,38:-,NM_015172.3(PRRC2C) c.1543C>T (p.Arg515Cys):-,NOT_FOUND:-,0.000159 1 171502101 . G . . NT END=171504566;NT GT ./. 1 171504737 . G . . NT END=171505167;NT GT ./. 1 171505418 . G . . NT END=171506401;NT GT ./. 1 171506261 rs2272809 A G 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1923,G/0.8077;Gene=PRRC2C/NM_015172.3/1;CC=c.2288-141A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:207:23.56:23.56:0.00:1.00:1.00:0.00:60:44.2:0:0:60:91:32:NM_015172.3(PRRC2C) c.2288-141A>G,NM_015172.3(PRRC2C) c.2288-141A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 171506613 . G . . NT END=171509109;NT GT ./. 1 171509058 rs2015996 G A 105 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.1925,A/0.8075;Gene=PRRC2C/NM_015172.3/1;CC=c.2499-52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:26:0:0:28:921:105.45:84.48:20.97:1.00:1.00:1.00:60:46.3:0:0:40:110:25:NM_015172.3(PRRC2C) c.2499-52G>A,NM_015172.3(PRRC2C) c.2499-52G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 171509327 rs760644 G A 377 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.1991,A/0.8009;Gene=PRRC2C/NM_015172.3/1;CC=c.2716G>A;ProtCh=p.A906T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:105:76:0:0:104,1:3293,9:377.06,0.00:230.98,0.00:146.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,85.0:0,0:0,0:63,86:85,34:29,0:NM_015172.3(PRRC2C) c.2716G>A (p.Ala906Thr),NM_015172.3(PRRC2C) c.2716G>A (p.Ala906Thr):0.81,0.81:0.794787,0.794787 1 171511039 rs1687064 C G 288 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.1897,A/.,G/0.8103;PC=0.107;Gene=PRRC2C/NM_015172.3/1;CC=c.4428C>G;ProtCh=p.S1476=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:43:0:0:83:2490:288.23:122.77:165.46:1.00:1.00:1.00:60:36.3:0:0:81:69:38:NM_015172.3(PRRC2C) c.4428C>G (p.(=)),NM_015172.3(PRRC2C) c.4428C>G (p.(=)):0.82,0.82:0.797478,0.797478 1 171511369 . G . . NT END=171514617;NT GT ./. 1 171511442 rs2272810 A G 102 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.5685,G/0.4315;PC=0.183;Gene=PRRC2C/NM_015172.3/1;CC=c.4757+74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:2:0:0:27:889:101.75:4.08:97.68:1.00:1.00:1.00:60:40.9:0:0:104:47:33:NM_015172.3(PRRC2C) c.4757+74A>G,NM_015172.3(PRRC2C) c.4757+74A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 171514731 rs235468 C G 208 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.1953,G/0.8047;PC=0.003;Gene=PRRC2C/NM_015172.3/1;CC=c.4871C>G;ProtCh=p.S1624C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:A,G:57:38:0:0:1,56:10,1820:0.17,208.17:0.00,102.05:0.17,106.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,45.0:0,0:0,0:37,83:109,67:0,39:NM_015172.3(PRRC2C) c.4871C>G (p.Ser1624Cys),NM_015172.3(PRRC2C) c.4871C>G (p.Ser1624Cys):0.81,0.81:0.792865,0.792865 1 171514827 . G . . NT END=171519224;NT GT ./. 1 171514848 rs57131009 T TTTTA 15 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=63;PC=0.012;Gene=PRRC2C/NM_015172.3/1;CC=c.4966+61_4966+62insATTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:T,TTTTA:32:13:6:0:26,6:838,193:0.00,15.46:0.00,1.89:0.00,13.57:0.00,0.89:0.00,0.88:0.00,0.98:70,60:16.0,9.5:0,0:0,0:114,69:37,80:18,18:-,NM_015172.3(PRRC2C) c.4966+22_4966+23insTTTA:-,NOT_FOUND:-,NOT_FOUND 1 171514875 rs202091093 T TATTC 37 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8476,TATTC/0.1524,TATTTATTC/.;DB;DBA=NA;PAF=NA;NP=16;NP=9;PC=0.245;Gene=PRRC2C/NM_015172.3/1;CC=c.4966+52_4966+53insCATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TATTC:26:9:12:0:14,12:424,389:0.00,36.84:0.00,6.97:0.00,29.87:0.00,1.00:0.00,0.99:0.00,1.00:60,70:11.1,2.8:0,0:0,0:118,100:17,50:24,34:-,NM_015172.3(PRRC2C) c.4966+49_4966+50insATTC:-,NOT_FOUND:-,0.264966 1 171519128 rs397981943 GT G 36 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GT/0.3163,G/0.6837;DB;DBA=NA;PAF=GT/0.3163,G/0.6837;NP=273;Gene=PRRC2C/NM_015172.3/1;CC=c.4967-81delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:GT,G:13:15:0:14:2,11:70,432:0.00,36.34:0.00,28.92:0.00,7.43:0.00,1.00:0.00,1.00:0.00,0.97:60,60:23.0,16.5:0,3:0,0:73,50:77,100:53,36:-,NM_015172.3(PRRC2C) c.4967-96delT:-,NOT_FOUND:-,NOT_FOUND 1 171519380 . G . . NT END=171526378;NT GT ./. 1 171519487 rs235470 A C 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.1987,C/0.8013;Gene=PRRC2C/NM_015172.3/1;CC=c.5121+108A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A,C:22:2:0:0:1,21:12,608:0.00,69.14:0.00,3.76:0.00,65.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:93.0,39.7:0,0:0,0:40,111:110,39:0,31:NM_015172.3(PRRC2C) c.5121+108A>C,NM_015172.3(PRRC2C) c.5121+108A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 171519558 rs538611574 A G 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;Gene=PRRC2C/NM_015172.3/1;CC=c.5121+179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:12:0:0:0:4,8:96,232:0.00,23.71:0.00,0.00:0.00,23.71:0.00,1.00:0.00,0.00:0.00,1.00:60,60:40.0,80.9:0,0:0,0:65,108:85,42:17,35:-,NM_015172.3(PRRC2C) c.5121+179A>G:-,NOT_FOUND:-,NOT_FOUND 1 171519571 . A T 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;Gene=PRRC2C/NM_015172.3/1;CC=c.5121+192A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:A,T:10:0:0:0:4,6:111,202:0.00,20.17:0.00,0.00:0.00,20.17:0.00,0.99:0.00,0.00:0.00,0.99:60,60:40.0,86.3:0,0:0,0:78,101:72,49:17,33:-,NM_015172.3(PRRC2C) c.5121+192A>T:-,NOT_FOUND:-,NOT_FOUND 1 171519605 rs11299449 CT C,CTT 9 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CT/0.3235,C/0.6765;NP=10;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:CTT,C:4:0:1:7:1,3:33,201:2.87,9.25:0.00,0.00:2.87,9.25:0.00,0.67:0.00,0.00:0.00,0.67:60,60:70.0,146.7:0,4:0,0:92,96:59,54:0,22:NM_015172.3(PRRC2C) c.5121+227delT,NM_015172.3(PRRC2C) c.5121+227dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 171526500 . c . . NT END=171527018;NT GT ./. 1 171526570 rs1687057 G A 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1897,A/0.8103;PC=0.013;Gene=PRRC2C/NM_015172.3/1;CC=c.5313G>A;ProtCh=p.P1771=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:3:0:0:23:697:80.52:6.07:74.45:1.00:1.00:1.00:60:45.8:0:0:106:45:27:NM_015172.3(PRRC2C) c.5313G>A (p.(=)),NM_015172.3(PRRC2C) c.5313G>A (p.(=)):0.82,0.82:0.810011,0.810011 1 171526910 rs12025905 G A 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8818,A/0.1182;PC=0.002;Gene=PRRC2C/NM_015172.3/1;CC=c.5653G>A;ProtCh=p.A1885T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,G:17:17:0:0:4,13:102,355:8.10,0.00:8.10,0.00:0.00,0.00:0.74,0.00:0.74,0.00:0.00,0.00:60,60:55.0,18.7:0,0:0,0:43,75:86,76:12,30:NM_015172.3(PRRC2C) c.5653G>A (p.Ala1885Thr),-:0.14,-:0.130948,- 1 171527283 . G . . NT END=171530156;NT GT ./. 1 171527322 rs235482 A G 136 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.1895,G/0.8105;Gene=PRRC2C/NM_015172.3/1;CC=c.6025+40A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:16:0:0:37:1183:135.92:40.56:95.37:1.00:1.00:1.00:60:45.6:0:0:104:44:29:NM_015172.3(PRRC2C) c.6025+40A>G,NM_015172.3(PRRC2C) c.6025+40A>G:0.82,0.82:0.798,0.798 1 171527517 rs35710400 T G,TG 28 idl;end,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2258,TC/.,TG/0.7742,TGG/.;NP=77;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:G,TG:9:0:8:0:1,8:23,242:1.83,27.60:0.00,0.00:1.83,27.60:0.00,1.00:0.00,0.00:0.00,1.00:60,60:51.0,41.6:0,0:0,0:1,105:149,46:0,22:NM_015172.3(PRRC2C) c.6025+235T>G,NM_015172.3(PRRC2C) c.6025+235_6025+236insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 171527525 rs77814531 T A 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1843,A/0.8157,G/.;DB;DBA=NA;PAF=NA;Gene=PRRC2C/NM_015172.3/1;CC=c.6025+243T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:256:30.27:0.00:30.27:1.00:0.00:1.00:60:41.3:0:0:104:45:29:NM_015172.3(PRRC2C) c.6025+243T>A,NM_015172.3(PRRC2C) c.6025+243T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 171527598 rs397714679 C CTG 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1895,CTG/0.8105;DB;DBA=NA;PAF=C/0.1895,CTG/0.8105;NP=56;PC=0.810;Gene=PRRC2C/NM_015172.3/1;CC=c.6025+319_6025+320insGT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,CTG:4:0:3:0:1,3:30,96:0.00,10.05:0.00,0.00:0.00,10.05:0.00,0.85:0.00,0.00:0.00,0.85:42,60:182.0,35.0:1,0:0,0:67,82:63,68:0,5:-,NM_015172.3(PRRC2C) c.6025+316_6025+317insTG:-,0.8:-,NOT_FOUND 1 171530243 . G . . NT END=171535371;NT GT ./. 1 171535180 rs1626990 C T 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2031,T/0.7969;Gene=PRRC2C/NM_015172.3/1;CC=c.6112-192C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:322:37.40:37.40:0.00:1.00:1.00:0.00:60:32.9:0:0:16:134:14:NM_015172.3(PRRC2C) c.6112-192C>T,NM_015172.3(PRRC2C) c.6112-192C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 171535561 . G . . NT END=171535730;NT GT ./. 1 171535983 . G . . NT END=171537385;NT GT ./. 1 171536106 rs11580526 G A 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.977,A/0.02296;PC=0.001;Gene=PRRC2C/NM_015172.3/1;CC=c.6552+124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:2:0:0:9,10:289,329:27.49,0.00:1.59,0.00:25.90,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:43.4,4.7:0,0:0,0:85,72:66,78:22,45:NM_015172.3(PRRC2C) c.6552+124G>A,-:0.03,-:NOT_FOUND,- 1 171537479 . G . . NT END=171540458;NT GT ./. 1 171540561 . G . . NT END=171544065;NT GT ./. 1 171543863 rs235509 G T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2091,T/0.7909;Gene=PRRC2C/NM_015172.3/1;CC=c.6748-203G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:195:22.36:22.36:0.00:1.00:1.00:0.00:60:51.7:0:0:46:104:7:NM_015172.3(PRRC2C) c.6748-203G>T,NM_015172.3(PRRC2C) c.6748-203G>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 171544268 . G . . NT END=171546572;NT GT ./. 1 171546777 . G . . NT END=171548492;NT GT ./. 1 171546833 rs6685179 C A 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.3458,A/0.6542;Gene=PRRC2C/NM_015172.3/1;CC=c.7153+57C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:8:0:0:21:639:73.86:22.78:51.08:1.00:1.00:1.00:60:53.8:0:0:94:57:34:NM_015172.3(PRRC2C) c.7153+57C>A,NM_015172.3(PRRC2C) c.7153+57C>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 171546912 rs67776282 T A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=272;Gene=PRRC2C/NM_015172.3/1;CC=c.7153+136T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,T:7:0:0:1:3,4:89,133:8.25,0.00:0.00,0.00:8.25,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:111.0,36.5:0,3:0,0:123,81:25,53:3,30:NM_015172.3(PRRC2C) c.7153+136T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 171546913 rs6693043 T A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=211;Gene=PRRC2C/NM_015172.3/1;CC=c.7153+137T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,T:7:0:0:1:3,4:87,134:8.05,0.00:0.00,0.00:8.05,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:111.0,36.5:0,2:0,0:124,82:24,52:3,30:NM_015172.3(PRRC2C) c.7153+137T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 171548606 . G . . NT END=171548966;NT GT ./. 1 171548617 rs3817772 G A 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7089,A/0.2911;Gene=PRRC2C/NM_015172.3/1;CC=c.7266+12G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:3:0:0:13:405:46.70:5.77:40.93:1.00:1.00:1.00:60:34.7:0:0:122:29:21:NM_015172.3(PRRC2C) c.7266+12G>A,NM_015172.3(PRRC2C) c.7266+12G>A:0.37,0.37:0.293403,0.293403 1 171548868 rs235489 T C 138 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.1831,C/0.8169;Gene=PRRC2C/NM_015172.3/1;CC=c.7267-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:93:A,C:38:38:0:0:1,37:10,1206:0.22,137.78:0.22,129.70:0.00,8.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,38.5:0,0:0,0:72,35:41,115:0,23:NM_015172.3(PRRC2C) c.7267-99T>C,NM_015172.3(PRRC2C) c.7267-99T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 171549104 . G . . NT END=171553094;NT GT ./. 1 171553327 . G . . NT END=171553557;NT GT ./. 1 171553681 . G . . NT END=171556141;NT GT ./. 1 171553851 rs235496 C T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2063,T/0.7937;Gene=PRRC2C/NM_015172.3/1;CC=c.7743+186C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,T:7:0:0:0:1,6:10,180:0.00,19.68:0.00,0.00:0.00,19.68:0.00,1.00:0.00,0.00:0.00,1.00:60,60:28.0,37.5:0,1:0,0:137,101:13,49:0,10:NM_015172.3(PRRC2C) c.7743+186C>T,NM_015172.3(PRRC2C) c.7743+186C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 171555879 rs235500 G A 15 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2065,A/0.7935;PC=0.001;Gene=PRRC2C/NM_015172.3/1;CC=c.7744-263G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:127:14.61:12.67:1.94:1.00:1.00:1.00:60:34.2:0:0:14:136:11:NM_015172.3(PRRC2C) c.7744-263G>A,NM_015172.3(PRRC2C) c.7744-263G>A:0.81,0.81:NOT_FOUND,NOT_FOUND 1 171556165 rs235501 G C 172 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.2069,A/.,C/0.7931;PC=0.825;Gene=PRRC2C/NM_015172.3/1;CC=c.7767G>C;ProtCh=p.S2589=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:47:42:0:0:47:1493:171.67:121.88:49.79:1.00:1.00:1.00:60:38.1:0:0:42:104:30:NM_015172.3(PRRC2C) c.7767G>C (p.(=)),NM_015172.3(PRRC2C) c.7767G>C (p.(=)):0.81,0.81:0.788021,0.788021 1 171556361 . G . . NT END=171556786;NT GT ./. 1 171556891 . G . . NT END=171557517;NT GT ./. 1 171557645 . G . . NT END=171558507;NT GT ./. 1 171557762 rs72717849 G T 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9772,T/0.02276;Gene=PRRC2C/NM_015172.3/1;CC=c.8193+118G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:G,T:12:1:0:0:3,9:101,251:0.00,26.41:0.00,1.83:0.00,24.59:0.00,1.00:0.00,0.83:0.00,1.00:60,60:4.3,34.0:0,0:0,0:83,85:68,65:26,37:-,NM_015172.3(PRRC2C) c.8193+118G>T:-,0.03:-,NOT_FOUND 1 171558447 rs67070768 GT G 27 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;Gene=PRRC2C/NM_015172.3/1;CC=c.8193+825delT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:GT,G:15:19:0:13:6,9:172,404:0.00,27.01:0.00,25.23:0.00,1.78:0.00,1.00:0.00,1.00:0.00,0.65:60,70:39.7,115.6:0,4:0,0:86,38:40,112:10,30:-,NM_015172.3(PRRC2C) c.8193+804delT:-,NOT_FOUND:-,NOT_FOUND 1 171558516 rs235503 C T 133 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.2031,T/0.7969;PC=1.000;Gene=PRRC2C/NM_015172.3/1;CC=c.8193+872C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:32:0:0:37:1155:133.06:99.90:33.15:1.00:1.00:1.00:70:52.9:0:0:42:102:27:NM_015172.3(PRRC2C) c.8193+872C>T,NM_015172.3(PRRC2C) c.8193+872C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 171558745 . G . . NT END=171560290;NT GT ./. 1 171560344 . G . . NT END=171560725;NT GT ./. 1 171560512 rs35289979 G GT 18 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5242,GT/0.4758;NP=1;NP=206;Gene=PRRC2C/NM_015172.3/1;CC=c.8194-198dupT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:G,GT:9:6:8:0:3,6:79,244:0.00,17.96:0.00,5.00:0.00,12.95:0.00,0.98:0.00,0.99:0.00,0.98:60,60:48.3,42.3:0,2:0,0:12,95:136,52:6,14:-,NM_015172.3(PRRC2C) c.8194-214_8194-213insT:-,NOT_FOUND:-,NOT_FOUND 1 171560987 . A . . NT END=171605064;NT GT ./. 1 171574513 rs377621871 C CCACACACACA 13 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;PC=0.138;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CCACACACACA:5:5:4:0:1,4:35,126:0.00,13.42:0.00,11.73:0.00,1.69:0.00,0.96:0.00,0.96:0.00,0.87:60,60:35.0,71.0:0,0:0,0:87,60:64,74:0,15:-,chr1 g.171574513_171574514insCACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 171574536 rs7553131 A C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6004,C/0.3996;NP=180;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:6:6:0:0:1,5:35,172:0.00,18.41:0.00,10.76:0.00,7.65:0.00,0.99:0.00,0.99:0.00,1.00:60,60:35.0,63.6:0,0:0,0:121,79:30,43:0,28:-,chr1 g.171574535A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 171581463 rs12024517 A C 14 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:120:13.90:1.99:11.91:1.00:1.00:1.00:60:63.5:0:0:100:50:23:chr1 g.171581462A>C (intergenic),chr1 g.171581462A>C (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 1 171581473 rs12024518 A C 15 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.047 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:134:15.31:1.94:13.37:1.00:1.00:1.00:60:63.5:0:0:110:40:23:chr1 g.171581472A>C (intergenic),chr1 g.171581472A>C (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 1 171605850 . C . . NT END=171607736;NT GT ./. 1 171606054 rs12076134 T G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7622,G/0.2378;Gene=MYOC/NM_000261.1/1;CC=c.731-205A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:G,T:11:0:0:0:6,5:198,161:19.37,0.00:0.00,0.00:19.37,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:50.5,0.0:0,0:0,0:90,136:60,15:31,3:NM_000261.1(MYOC) c.731-205A>C,-:0.2,-:NOT_FOUND,- 1 171607702 rs2032555 C T 184 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.2155,T/0.7845;Gene=MYOC/NM_000261.1/1;CC=c.730+35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:T:49:45:0:0:49:1602:183.56:130.87:52.69:1.00:1.00:1.00:60:41.1:0:0:34:110:20:NM_000261.1(MYOC) c.730+35G>A,NM_000261.1(MYOC) c.730+35G>A:0.77,0.77:0.758804,0.758804 1 171607863 . C . . NT END=171621147;NT GT ./. 1 171608142 rs603490 A C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3606,C/0.6394,T/.;PC=0.004;Gene=MYOC/NM_000261.1/1;CC=c.605-280T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,C:8:0:0:0:5,3:146,96:0.00,8.74:0.00,0.00:0.00,8.74:0.00,0.67:0.00,0.00:0.00,0.67:60,60:45.0,54.0:0,0:0,0:135,79:16,71:13,11:-,NM_000261.1(MYOC) c.605-280T>G:-,0.65:-,NOT_FOUND 1 171621752 . T . . NT END=171673645;NT GT ./. 1 171622057 rs34324629 C T 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8684,T/0.1316 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:8:2:0:0:3,5:99,108:0.00,10.84:0.00,0.92:0.00,9.92:0.00,0.97:0.00,0.88:0.00,1.00:60,60:18.3,32.6:0,0:0,0:57,60:94,90:30,22:-,NM_000261.1(MYOC) c.-22-u284G>A:-,0.13:-,NOT_FOUND 1 171622064 rs5778706 T TACAC 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.738,TAC/0.262,TACAC/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.738,TAC/0.262,TACAC/.;NP=1;NP=110;NP=48;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:T,TACAC:7:2:3:0:4,3:118,82:0.00,7.56:0.00,2.37:0.00,5.19:0.00,0.69:0.00,0.73:0.00,0.93:60,60:23.5,37.0:0,0:0,0:49,67:102,83:20,20:-,NM_000261.1(MYOC) c.-22-u292_-22-u291insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 171652144 rs9662174 C T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8223,T/0.1777;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:14:0:0:6,8:203,246:0.00,24.23:0.00,24.41:0.00,-0.18:0.00,1.00:0.00,1.00:0.00,0.71:60,60:5.7,34.6:0,0:0,0:38,86:113,65:33,32:-,chr1 g.171652143C>T (intergenic):-,0.16:-,NOT_FOUND 1 171652584 rs236893 A G 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.02696,G/0.973;PC=0.983 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:3:0:0:13,10:409,312:0.00,29.13:0.00,4.70:0.00,24.43:0.00,1.00:0.00,0.83:0.00,1.00:60,60:13.3,52.0:0,0:0,0:86,59:64,91:40,51:-,chr1 g.171652583A>G (intergenic):-,0.96:-,NOT_FOUND 1 171652664 rs9661596 G A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8221,A/0.1779;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:A,G:16:4:0:0:5,11:156,352:13.67,0.00:1.66,0.00:12.01,0.00:0.88,0.00:0.78,0.00:0.98,0.00:60,60:64.2,3.6:0,0:0,0:105,88:46,63:15,40:chr1 g.171652663G>A (intergenic),-:0.16,-:NOT_FOUND,- 1 171652731 rs9662853 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8213,G/0.1787;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,G:12:8:0:0:7,5:197,171:0.00,15.95:0.00,16.88:0.00,-0.94:0.00,0.92:0.00,0.98:0.00,0.89:60,60:14.7,67.0:0,0:0,0:85,18:66,133:17,11:-,chr1 g.171652730A>G (intergenic):-,0.16:-,NOT_FOUND 1 171652759 rs11811780 A G 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8275,G/0.1725;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:8:0:0:7,6:186,198:0.00,18.78:0.00,12.91:0.00,5.87:0.00,0.97:0.00,0.99:0.00,0.98:60,60:14.7,55.8:0,0:0,0:113,43:38,108:17,25:-,chr1 g.171652758A>G (intergenic):-,0.16:-,NOT_FOUND 1 171653384 rs10913489 T C 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.8221,C/0.1779;PC=0.977 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:24:0:0:19,10:638,334:64.75,0.00:50.51,0.00:14.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.2,4.1:0,0:0,0:56,61:95,86:32,45:chr1 g.171653383T>C (intergenic),-:0.16,-:NOT_FOUND,- 1 171653401 rs10913490 G T 66 nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.8221,A/.,T/0.1779;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:34:27:0:0:14,20:400,665:0.00,66.08:0.00,50.92:0.00,15.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,69.2:0,0:0,0:31,59:120,81:21,30:-,chr1 g.171653400G>T (intergenic):-,0.16:-,NOT_FOUND 1 171653599 rs10913492 G A 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8225,A/0.1775,C/.;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:2:0:0:10,6:257,201:25.82,0.00:1.31,0.00:24.51,0.00:1.00,0.00:0.88,0.00:1.00,0.00:60,60:54.6,2.0:0,0:0,0:96,106:55,44:17,23:chr1 g.171653598G>A (intergenic),-:0.16,-:NOT_FOUND,- 1 171653696 rs11576221 A G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8223,G/0.1777 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:0:0:0:2,3:71,78:0.00,7.76:0.00,0.00:0.00,7.76:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,46.0:0,0:0,0:82,114:69,36:43,15:-,chr1 g.171653695A>G (intergenic):-,0.16:-,NOT_FOUND 1 171673675 . C . . NT END=171675506;NT GT ./. 1 171673749 rs3835498 AT A 12 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=AT/0.8574,A/0.1426;NP=825;PC=0.002;Gene=VAMP4/NM_001185127.1/0;CC=c.395-76delA;VC=Intron;Gene=VAMP4/NM_003762.4/1;CC=c.398-76delA;VC=Intron;Gene=VAMP4/NR_033704.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:AT,A:12:2:0:4:8,4:263,131:0.00,11.69:0.00,-0.18:0.00,11.87:0.00,0.80:0.00,0.63:0.00,0.80:60,60:0.0,0.0:0,0:0,0:103,123:46,26:24,8:-,NM_003762.4(VAMP4) c.398-76delA:-,0.14:-,0.171199 1 171675559 . C . . NT END=171678804;NT GT ./. 1 171678885 . C . . NT END=171679853;NT GT ./. 1 171679955 . C . . NT END=171688310;NT GT ./. 1 171679958 rs10913530 G A 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.649,A/0.351;PC=1.000;Gene=VAMP4/NM_001185127.1/0;CC=c.162-4C>T;VC=Intron;Gene=VAMP4/NM_003762.4/1;CC=c.165-4C>T;VC=Intron;Gene=VAMP4/NR_033704.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:14:0:0:18,12:581,366:57.91,0.00:17.94,0.00:39.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,12.5:0,0:0,0:79,95:71,54:34,24:NM_003762.4(VAMP4) c.165-4C>T,-:0.36,-:0.362483,- 1 171688362 . C . . NT END=171707488;NT GT ./. 1 171707272 rs10753179 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3678,C/0.6322;PC=0.039;Gene=VAMP4/NM_001185127.1/0;CC=c.66+217A>G;VC=Intron;Gene=VAMP4/NM_003762.4/1;CC=c.66+217A>G;VC=Intron;Gene=VAMP4/NR_033704.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:C,T:12:12:0:0:5,7:173,208:16.15,0.00:16.15,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:36.4,8.1:0,0:0,0:55,22:96,129:19,12:NM_003762.4(VAMP4) c.66+217A>G,-:0.6,-:NOT_FOUND,- 1 171707555 . A . . NT END=171750918;NT GT ./. 1 171715014 rs71107335 T TCTCACACA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=72;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TCTCACACA:3:3:3:0:1,2:33,98:0.00,6.85:0.00,1.69:0.00,5.16:0.00,0.51:0.00,0.89:0.00,0.79:60,70:13.0,16.0:0,1:0,0:24,93:126,57:0,17:-,NM_003762.4(VAMP4) c.-379-u3636_-379-u3635insTGTGTGAG:-,NOT_FOUND:-,NOT_FOUND 1 171750774 rs2294717 C T 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.6931,T/0.3069;Gene=METTL13/NM_001007239.1/1;CC=c.-334C>T;VC=5UTR;Gene=METTL13/NM_014955.2/0;CC=c.-267C>T;VC=5UTR;Gene=METTL13/NM_015935.4/0;CC=c.-334C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:18,10:584,249:0.00,21.71:0.00,21.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.3,37.9:0,0:0,0:63,73:87,77:34,24:-,NM_015935.4(METTL13) c.-334C>T:-,0.34:-,NOT_FOUND 1 171751051 rs2294719 A G 248 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=161;DB;DBA=NA;PAF=A/0.5144,G/0.4856;Gene=METTL13/NM_001007239.1/1;CC=c.-57A>G;VC=5UTR;Gene=METTL13/NM_014955.2/0;CC=c.-106+116A>G;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.-57A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:161:105:0:0:83,78:2549,2589:0.00,247.73:0.00,122.90:0.00,124.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,39.8:0,0:0,0:73,83:75,67:42,40:-,NM_015935.4(METTL13) c.-57A>G:-,0.53:-,NOT_FOUND 1 171751236 rs2294720 T C 166 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.4663,C/0.5337;PC=1.000;Gene=METTL13/NM_001007239.1/1;CC=c.129T>C;ProtCh=p.H43=;VC=Silent;Gene=METTL13/NM_014955.2/0;CC=c.-106+301T>C;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.129T>C;ProtCh=p.H43=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:118:49:0:0:56,62:1746,1866:165.79,0.00:57.48,0.00:108.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,16.9:0,0:0,0:95,93:53,54:30,27:NM_015935.4(METTL13) c.129T>C (p.(=)),-:0.57,-:0.547901,- 1 171751261 . G . . NT END=171752879;NT GT ./. 1 171751416 rs7541128 G A 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4876,A/0.5124;PC=0.015;Gene=METTL13/NM_001007239.1/1;CC=c.153+156G>A;VC=Intron;Gene=METTL13/NM_014955.2/0;CC=c.-106+481G>A;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.153+156G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,G:19:1:0:0:14,5:397,168:41.59,0.00:3.34,0.00:38.25,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:53.2,2.0:0,0:0,0:96,88:54,63:42,22:NM_015935.4(METTL13) c.153+156G>A,-:0.55,-:NOT_FOUND,- 1 171751439 rs6425415 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2452,G/0.7548;PC=0.002;Gene=METTL13/NM_001007239.1/1;CC=c.153+179A>G;VC=Intron;Gene=METTL13/NM_014955.2/0;CC=c.-106+504A>G;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.153+179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:14:1:0:0:5,9:166,260:0.00,26.33:0.00,3.38:0.00,22.94:0.00,1.00:0.00,0.76:0.00,1.00:60,60:2.0,62.3:0,0:0,0:89,90:62,61:30,28:-,NM_015935.4(METTL13) c.153+179A>G:-,0.73:-,NOT_FOUND 1 171753039 rs2232816 A G 273 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=173;DB;DBA=NA;PAF=A/0.6931,G/0.3069;PC=1.000;Gene=METTL13/NM_001007239.1/1;CC=c.313A>G;ProtCh=p.M105V;VC=Missense;Gene=METTL13/NM_014955.2/0;CC=c.55A>G;ProtCh=p.M19V;VC=Missense;Gene=METTL13/NM_015935.4/0;CC=c.313A>G;ProtCh=p.M105V;VC=Missense;DM=METTL13/Methyltransf_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:173:121:0:0:81,92:2611,2811:0.00,272.99:0.00,142.27:0.00,130.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,39.5:0,0:0,0:64,66:83,83:34,33:-,NM_015935.4(METTL13) c.313A>G (p.Met105Val):-,0.34:-,0.284792 1 171753640 . G . . NT END=171755018;NT GT ./. 1 171754799 rs732305 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5144,A/0.4856;PC=0.003;Gene=METTL13/NM_001007239.1/1;CC=c.454-228G>A;VC=Intron;Gene=METTL13/NM_014955.2/0;CC=c.656-220G>A;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.914-220G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:8:8:0:0:5,3:150,69:15.07,0.00:15.07,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:74.6,12.7:0,0:0,0:35,38:115,113:12,0:NM_015935.4(METTL13) c.914-220G>A,-:0.53,-:NOT_FOUND,- 1 171754865 rs732304 A G 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.5052,G/0.4948;PC=0.191;Gene=METTL13/NM_001007239.1/1;CC=c.454-162A>G;VC=Intron;Gene=METTL13/NM_014955.2/0;CC=c.656-154A>G;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.914-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:23:23:0:0:9,1,13:278,10,391:0.00,0.15,38.78:0.00,0.15,38.78:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:6.8,28.0,53.3:0,0,0:0,0,0:13,47,37:138,104,114:7,0,29:-,NM_015935.4(METTL13) c.914-154A>G:-,0.54:-,NOT_FOUND 1 171755170 rs2232818 G A 155 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.6819,A/0.3181;Gene=METTL13/NM_001007239.1/1;CC=c.597G>A;ProtCh=p.S199=;VC=Silent;Gene=METTL13/NM_014955.2/0;CC=c.807G>A;ProtCh=p.S269=;VC=Silent;Gene=METTL13/NM_015935.4/0;CC=c.1065G>A;ProtCh=p.S355=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:109:62:0:0:48,60,1:1640,1842,14:154.69,0.00,-0.02:54.24,0.00,0.13:100.46,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.7,6.8,25.0:0,0,0:0,0,0:81,49,139:66,84,12:36,29,0:NM_015935.4(METTL13) c.1065G>A (p.(=)),-:0.35,-:0.297478,- 1 171755219 . G . . NT END=171756874;NT GT ./. 1 171757071 . G . . NT END=171759591;NT GT ./. 1 171759757 . G . . NT END=171761156;NT GT ./. 1 171761376 . G . . NT END=171763535;NT GT ./. 1 171763522 rs909958 C A 104 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.6863,A/0.3137;Gene=METTL13/NM_001007239.1/1;CC=c.1226-14C>A;VC=Intron;Gene=METTL13/NM_014955.2/0;CC=c.1436-14C>A;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.1694-14C>A;VC=Intron;DM=METTL13/Spermine_synth GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:62:52:0:0:33,29:1068,941:103.94,0.00:75.32,0.00:28.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,5.1:0,0:0,0:44,45:104,104:21,19:NM_015935.4(METTL13) c.1694-14C>A,-:0.35,-:0.294249,- 1 171763668 . G . . NT END=171765621;NT GT ./. 1 171765591 rs2232826 G A 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7033,A/0.2967;Gene=METTL13/NM_001007239.1/1;CC=c.1358-31G>A;VC=Intron;Gene=METTL13/NM_014955.2/0;CC=c.1568-31G>A;VC=Intron;Gene=METTL13/NM_015935.4/0;CC=c.1826-31G>A;VC=Intron;DM=METTL13/Spermine_synth GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:55:0:0:20,39:660,1300:59.14,0.00:48.36,0.00:10.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,11.7:0,0:0,0:28,42:123,101:18,28:NM_015935.4(METTL13) c.1826-31G>A,-:0.33,-:0.275334,- 1 171765897 . C . . NT END=171810796;NT GT ./. 1 171810958 . G . . NT END=171890887;NT GT ./. 1 171810960 rs12239702 A G 856 nt VT=SNV;PN=T;NN=A;SST=Single;DP=224;DB;DBA=NA;PAF=A/0.3672,G/0.6328;PC=1.000;Gene=DNM3/NM_001278252.1/0;CC=c.161+3A>G;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.161+3A>G;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.161+3A>G;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:224:119:0:0:224:7493:855.98:303.94:552.04:1.00:1.00:1.00:60:44.0:0:0:99:44:26:NM_015569.3(DNM3) c.161+3A>G,NM_015569.3(DNM3) c.161+3A>G:0.65,0.65:0.610879,0.610879 1 171811031 rs73031718 G C 124 nt VT=SNV;PN=G;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.8786,C/0.1214;PC=0.487;Gene=DNM3/NM_001278252.1/0;CC=c.161+74G>C;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.161+74G>C;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.161+74G>C;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:90:19:0:0:1,44,45:9,1299,1377:-0.13,123.99,0.00:-0.03,25.63,0.00:-0.10,98.36,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:169.0,74.9,54.3:0,0,0:0,0,0:67,121,108:84,28,40:0,17,24:NM_015569.3(DNM3) c.161+74G>C,-:0.13,-:NOT_FOUND,- 1 171811092 . T G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;Gene=DNM3/NM_001278252.1/0;CC=c.161+135T>G;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.161+135T>G;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.161+135T>G;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,G,T,I:31:1:1:0:3,6,21,1:33,122,511,22:1.07,8.89,0.00,0.91:-0.04,-0.09,0.00,-0.01:1.11,8.98,0.00,0.93:0.00,0.90,0.00,0.00:0.00,0.46,0.00,0.00:0.00,0.99,0.00,0.00:60,60,60,60:175.3,124.7,62.2,60.0:0,0,0,1:0,0,0,0:114,65,131,59:33,80,20,48:14,19,9,0:NM_015569.3(DNM3) c.161+135T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 171817030 rs201694827 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6597,G/0.3403;PC=0.008;Gene=DNM3/NM_001278252.1/0;CC=c.161+6073C>G;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.161+6073C>G;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.161+6073C>G;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:4:0:0:1,3:35,108:0.00,11.25:0.00,9.28:0.00,1.98:0.00,0.85:0.00,0.85:0.00,0.83:60,60:128.0,200.7:1,0:0,0:57,79:89,72:0,10:-,NM_015569.3(DNM3) c.161+6073C>G:-,NOT_FOUND:-,NOT_FOUND 1 171817032 rs200397217 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5843,G/0.4157;PC=0.007;Gene=DNM3/NM_001278252.1/0;CC=c.161+6075C>G;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.161+6075C>G;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.161+6075C>G;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:144:16.31:14.27:2.04:1.00:1.00:1.00:60:182.5:1:0:70:78:16:NM_015569.3(DNM3) c.161+6075C>G,NM_015569.3(DNM3) c.161+6075C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 171817034 rs56261149 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5743,G/0.4257;NP=58;PC=0.003;Gene=DNM3/NM_001278252.1/0;CC=c.161+6077C>G;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.161+6077C>G;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.161+6077C>G;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:139:15.81:13.77:2.04:1.00:1.00:1.00:60:182.5:0:0:72:76:16:NM_015569.3(DNM3) c.161+6077C>G,NM_015569.3(DNM3) c.161+6077C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 171817036 rs12406841 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6647,G/0.3353;NP=1;NP=2;NP=3;NP=69;PC=0.001;Gene=DNM3/NM_001278252.1/0;CC=c.161+6079C>G;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.161+6079C>G;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.161+6079C>G;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:144:16.31:14.27:2.04:1.00:1.00:1.00:60:182.5:0:0:74:74:16:NM_015569.3(DNM3) c.161+6079C>G,NM_015569.3(DNM3) c.161+6079C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 171890962 . G . . NT END=171939280;NT GT ./. 1 171939290 rs2038479 C A 72 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.1923,A/0.8077;PC=0.002;Gene=DNM3/NM_001278252.1/0;CC=c.236-17506C>A;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.236-17506C>A;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.236-17506C>A;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:47:0:0:24,37:784,1187:72.10,0.00:46.08,0.00:26.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,7.5:0,0:0,0:44,73:107,75:28,32:NM_015569.3(DNM3) c.236-17506C>A,-:0.8,-:NOT_FOUND,- 1 171939386 . G . . NT END=171956441;NT GT ./. 1 171956449 . G . . NT END=171956795;NT GT ./. 1 171956803 rs3736790 C T 60 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.6635,T/0.3365;Gene=DNM3/NM_001278252.1/0;CC=c.243C>T;ProtCh=p.A81=;VC=Silent;Gene=DNM3/NM_001136127.2/0;CC=c.243C>T;ProtCh=p.A81=;VC=Silent;Gene=DNM3/NM_015569.4/1;CC=c.243C>T;ProtCh=p.A81=;VC=Silent;DM=DNM3/Dynamin_N;DM=DNM3/GED;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:40:0:0:35,20:1069,666:0.00,60.49:0.00,48.60:0.00,11.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.9,48.5:0,0:0,0:95,46:55,105:29,34:-,NM_015569.3(DNM3) c.243C>T (p.(=)):-,0.3:-,0.298319 1 171956946 . G . . NT END=171958084;NT GT ./. 1 171958289 . G . . NT END=172001541;NT GT ./. 1 171979822 rs67050244 TTG T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=55;Gene=DNM3/NM_001278252.1/0;CC=c.589+21574_589+21575delGT;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.589+21574_589+21575delGT;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.589+21574_589+21575delGT;VC=Intron;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_N;DM=DNM3/Dynamin_M;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:TTG,T:5:4:0:4:2,3:63,129:0.00,9.43:0.00,4.71:0.00,4.71:0.00,0.73:0.00,0.51:0.00,0.96:60,60:22.0,29.7:0,1:0,0:54,40:95,103:53,6:-,NM_015569.3(DNM3) c.589+21535_589+21536delTG:-,NOT_FOUND:-,NOT_FOUND 1 172001641 . G . . NT END=172002244;NT GT ./. 1 172001872 rs72719048 G A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9389,A/0.0611;PC=0.031;Gene=DNM3/NM_001278252.1/0;CC=c.688+232G>A;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.688+232G>A;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.688+232G>A;VC=Intron;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:A,G:6:3:0:0:4,2:124,60:12.65,0.00:6.52,0.00:6.12,0.00:0.93,0.00:0.97,0.00:0.97,0.00:60,60:65.0,5.0:0,0:0,0:64,63:86,86:41,19:NM_015569.3(DNM3) c.688+232G>A,-:0.06,-:NOT_FOUND,- 1 172002008 rs4916241 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5439,C/0.4561;Gene=DNM3/NM_001278252.1/0;CC=c.689-237T>C;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.689-237T>C;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.689-237T>C;VC=Intron;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,T:7:7:0:0:3,4:86,130:7.95,0.00:7.95,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:50.7,10.5:0,0:0,0:112,48:39,103:4,26:NM_015569.3(DNM3) c.689-237T>C,-:0.46,-:NOT_FOUND,- 1 172002406 . G . . NT END=172007458;NT GT ./. 1 172007602 . G . . NT END=172011148;NT GT ./. 1 172011059 rs3736791 G A 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5579,A/0.4421;Gene=DNM3/NM_001278252.1/0;CC=c.993-90G>A;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.993-90G>A;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.993-90G>A;VC=Intron;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:24:0:0:11,16:352,522:32.52,0.00:29.97,0.00:2.55,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:39.6,11.0:0,0:0,0:35,37:116,110:16,24:NM_015569.3(DNM3) c.993-90G>A,-:0.45,-:NOT_FOUND,- 1 172011285 . G . . NT END=172013524;NT GT ./. 1 172013593 . G . . NT END=172017751;NT GT ./. 1 172017891 . G . . NT END=172037958;NT GT ./. 1 172018052 rs2295611 T A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5753,A/0.4247;Gene=DNM3/NM_001278252.1/0;CC=c.1335+162T>A;VC=Intron;Gene=DNM3/NM_001136127.2/0;CC=c.1335+162T>A;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.1335+162T>A;VC=Intron;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,T:11:0:0:0:5,6:176,204:16.69,0.00:0.00,0.00:16.69,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:48.6,0.0:0,0:0,0:48,106:102,43:38,31:NM_015569.3(DNM3) c.1335+162T>A,-:0.44,-:NOT_FOUND,- 1 172018180 rs6700538 C G,T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5753,T/0.4247;DM=DNM3/Dynamin_M;DM=DNM3/Dynamin_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:G,T:5:0:0:0:1,4:10,130:0.79,14.52:0.00,0.00:0.79,14.52:0.00,0.96:0.00,0.00:0.00,0.96:54,60:165.0,50.2:0,0:0,0:31,96:91,54:0,45:NM_015569.3(DNM3) c.1335+290C>G,NM_015569.3(DNM3) c.1335+290C>T:NOT_FOUND,0.44:NOT_FOUND,NOT_FOUND 1 172038046 . G . . NT END=172050971;NT GT ./. 1 172051043 . G . . NT END=172061963;NT GT ./. 1 172062016 . G . . NT END=172062835;NT GT ./. 1 172062866 . G . . NT END=172100314;NT GT ./. 1 172100429 . G . . NT END=172102122;NT GT ./. 1 172102533 . C . . NT END=172222712;NT GT ./. 1 172150500 rs9787394 T C 11 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9311,C/0.06889;PC=0.002;Gene=DNM3/NM_001136127.2/0;CC=c.1659+50072T>C;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.1659+50072T>C;VC=Intron;DM=DNM3/PH;DM=DNM3/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:4:0:0:3,1:104,33:10.85,0.00:9.23,0.00:1.63,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:48.0,0.0:0,0:0,0:26,122:55,28:5,0:NM_015569.3(DNM3) c.1659+50072T>C,-:0.07,-:NOT_FOUND,- 1 172222629 rs145316116 TCTCTCCTCTCCTCTC T 49 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=19;PC=0.020;Gene=DNM3/NM_001136127.2/0;CC=c.1660-42_1660-28delTCTCCTCTCCTCTCC;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.1660-42_1660-28delTCTCCTCTCCTCTCC;VC=Intron;DM=DNM3/PH;DM=DNM3/PH;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCTCTCCTCTCCTCTC,T:26:25:0:16:10,16:314,495:0.00,49.39:0.00,46.45:0.00,2.94:0.00,1.00:0.00,1.00:0.00,0.98:60,70:5.0,22.6:0,0:0,0:124,36:26,115:16,14:-,NM_015569.3(DNM3) c.1660-83_1660-69delCTCTCCTCTCCTCTC:-,NOT_FOUND:-,NOT_FOUND 1 172222823 . G . . NT END=172258635;NT GT ./. 1 172259226 . A . . NT END=172277867;NT GT ./. 1 172277845 rs200321314 AT A 33 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=111;PC=0.020;Gene=DNM3/NM_001136127.2/0;CC=c.1770-9delT;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.1770-9delT;VC=Intron;DM=DNM3/PH;DM=DNM3/PH;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:38:34:2:14:24,2,12:779,60,440:0.00,3.82,33.03:0.00,3.98,23.08:0.00,-0.16,9.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:25.5,10.5,6.7:0,0,2:0,0,0:46,62,81:101,88,69:37,47,19:-,NM_015569.3(DNM3) c.1770-22delT:-,NOT_FOUND:-,NOT_FOUND 1 172277980 . G . . NT END=172292468;NT GT ./. 1 172292481 . G . . NT END=172348157;NT GT ./. 1 172348323 . G . . NT END=172356272;NT GT ./. 1 172356437 rs6688654 A G 416 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=A/0.003395,G/0.9966;NP=3468;Gene=DNM3/NM_001136127.2/0;CC=c.2211A>G;ProtCh=p.T737=;VC=Silent;Gene=DNM3/NM_015569.4/1;CC=c.2223A>G;ProtCh=p.T741=;VC=Silent;DM=DNM3/GED GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:121:72:0:0:120,1:3592,35:415.68,1.89:171.79,0.00:243.89,1.89:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,35.0:0,0:0,0:70,60:75,91:23,0:NM_015569.3(DNM3) c.2223A>G (p.(=)),NM_015569.3(DNM3) c.2223A>G (p.(=)):0.99,0.99:0.989369,0.989369 1 172356500 . G . . NT END=172357712;NT GT ./. 1 172356582 rs2269612 G A 139 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4826,A/0.5174;PC=0.267;Gene=DNM3/NM_001136127.2/0;CC=c.2273+83G>A;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.2285+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:2:0:0:37:1210:138.64:7.65:130.98:1.00:1.00:1.00:60:43.9:0:0:95:56:30:NM_015569.3(DNM3) c.2285+83G>A,NM_015569.3(DNM3) c.2285+83G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 172357441 rs12405515 G T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4653,T/0.5347;Gene=DNM3/NM_001136127.2/0;CC=c.2274-272G>T;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.2286-272G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,T:4:4:0:0:1,3:10,97:0.00,10.20:0.00,10.20:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:59,60:184.0,54.3:0,0:0,0:63,9:86,142:0,5:-,NM_015569.3(DNM3) c.2286-272G>T:-,0.58:-,NOT_FOUND 1 172357950 . G . . NT END=172376911;NT GT ./. 1 172358167 rs2301453 G A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4816,A/0.5184;Gene=DNM3/NM_001136127.2/0;CC=c.2510+218G>A;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.2522+218G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:191:21.96:0.00:21.96:1.00:0.00:1.00:60:34.0:0:0:107:43:35:NM_015569.3(DNM3) c.2522+218G>A,NM_015569.3(DNM3) c.2522+218G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 172376632 rs10752946 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5425,T/0.4575;Gene=DNM3/NM_001136127.2/0;CC=c.2511-280C>T;VC=Intron;Gene=DNM3/NM_015569.4/1;CC=c.2523-280C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:117:13.61:13.61:0.00:1.00:1.00:0.00:60:52.5:0:0:14:137:3:NM_015569.3(DNM3) c.2523-280C>T,NM_015569.3(DNM3) c.2523-280C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 172380678 . TA T 41 idl,rn VT=DEL;SST=Single;DP=54;NP=2;PC=0.002;Gene=DNM3/NM_001136127.2/0;CC=c.*3712delA;VC=3UTR;Gene=DNM3/NM_015569.4/1;CC=c.*3712delA;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:46:39:2:22:2,28,2,14:40,704,61,720:1.81,0.00,3.74,40.57:-0.31,0.00,2.04,22.82:2.12,0.00,1.71,17.75:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.96:60,60,60,60:158.5,28.1,0.0,7.2:1,0,0,8:0,0,0,0:93,70,55,65:56,72,95,84:19,33,10,25:-,NM_015569.3(DNM3) c.*3698A[14]:-,NOT_FOUND:-,NOT_FOUND 1 172380875 rs4916255 C A 244 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.0623,A/0.9377;Gene=DNM3/NM_001136127.2/0;CC=c.*3894C>A;VC=3UTR;Gene=DNM3/NM_015569.4/1;CC=c.*3894C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:65:39:0:0:65:2135:244.49:124.34:120.15:1.00:1.00:1.00:60:38.7:0:0:83:68:27:NM_015569.3(DNM3) c.*3894C>A,NM_015569.3(DNM3) c.*3894C>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 172381383 rs7528296 T C 280 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.7073,C/0.2927;PC=0.014;Gene=DNM3/NM_001136127.2/0;CC=c.*4402T>C;VC=3UTR;Gene=DNM3/NM_015569.4/1;CC=c.*4402T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:77:47:0:0:77:2436:280.16:147.62:132.53:1.00:1.00:1.00:60:38.0:0:0:75:67:37:NM_015569.3(DNM3) c.*4402T>C,NM_015569.3(DNM3) c.*4402T>C:0.35,0.35:NOT_FOUND,NOT_FOUND 1 172381858 . C . . NT END=172387420;NT GT ./. 1 172387458 . C . . NT END=172390025;NT GT ./. 1 172390047 . G . . NT END=172410868;NT GT ./. 1 172398363 rs71107353 TACACACAC T 10 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TACACACAC/0.00639,T/0.9936;DB;DBA=NA;PAF=TACACACAC/0.00639,T/0.9936;NP=216;Gene=C1orf105/NM_139240.3/1;CC=c.21+8343_21+8350delCACACACA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TACACACAC,T:4:2:0:3:1,3:34,91:0.00,9.55:0.00,1.58:0.00,7.98:0.00,0.85:0.00,0.95:0.00,0.85:60,70:0.0,22.7:0,0:0,0:125,87:25,64:0,10:-,NM_139240.3(C1orf105) c.21+8318_21+8325delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 172410492 rs55669322 TACACACACACACAC T 12 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=C1orf105/NM_139240.3/1;CC=c.22-3694_22-3681delACACACACACACAC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TACACACACACACAC,T:5:3:0:4:1,4:33,111:0.00,11.91:0.00,7.09:0.00,4.82:0.00,0.96:0.00,0.99:0.00,0.99:60,70:25.0,19.2:0,0:0,0:117,30:27,120:0,8:-,NM_139240.3(C1orf105) c.22-3720_22-3707delACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 172410967 rs1063412 G A 367 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.5457,A/0.4543;PC=1.000;Gene=C1orf105/NM_139240.3/1;CC=c.22-3246G>A;VC=Intron;Gene=PIGC/NM_002642.3/0;CC=c.796C>T;ProtCh=p.P266S;VC=Missense;Gene=PIGC/NM_153747.1/1;CC=c.796C>T;ProtCh=p.P266S;VC=Missense;DM=PIGC/GPI2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:98:76:0:0:98:3199:366.61:223.13:143.48:1.00:1.00:1.00:60:36.9:0:0:76:73:33:NM_002642.3(PIGC) c.796C>T (p.Pro266Ser),NM_002642.3(PIGC) c.796C>T (p.Pro266Ser):0.5,0.5:0.419652,0.419652 1 172411496 rs2230471 A G 418 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.07588,G/0.9241;PC=1.000;Gene=C1orf105/NM_139240.3/1;CC=c.22-2717A>G;VC=Intron;Gene=PIGC/NM_002642.3/0;CC=c.267T>C;ProtCh=p.G89=;VC=Silent;Gene=PIGC/NM_153747.1/1;CC=c.267T>C;ProtCh=p.G89=;VC=Silent;DM=PIGC/GPI2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:113:66:0:0:113:3644:417.98:181.31:236.67:1.00:1.00:1.00:60:41.5:0:0:79:69:39:NM_002642.3(PIGC) c.267T>C (p.(=)),NM_002642.3(PIGC) c.267T>C (p.(=)):0.91,0.91:0.85376,0.85376 1 172411763 . T . . NT END=172413139;NT GT ./. 1 172412995 rs3213563 T C 52 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5441,C/0.4559;Gene=C1orf105/NM_139240.3/1;CC=c.22-1218T>C;VC=Intron;Gene=PIGC/NM_002642.3/0;CC=c.-232+133A>G;VC=Intron;Gene=PIGC/NM_153747.1/1;CC=c.-209+133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:457:52.33:52.33:0.00:1.00:1.00:0.00:60:38.0:0:0:52:98:31:NM_139240.3(C1orf105) c.22-1218T>C,NM_139240.3(C1orf105) c.22-1218T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 172413426 . G . . NT END=172414212;NT GT ./. 1 172413526 rs4916258 T G 99 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.5447,G/0.4553;PC=0.001;Gene=C1orf105/NM_139240.3/1;CC=c.22-687T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:C,G:29:6:0:0:1,28:25,861:1.52,98.94:0.00,12.37:1.52,86.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:209.0,43.8:0,0:0,0:64,103:87,46:0,20:NM_139240.3(C1orf105) c.22-687T>G,NM_139240.3(C1orf105) c.22-687T>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 172414299 . G . . NT END=172417580;NT GT ./. 1 172417672 . G . . NT END=172421938;NT GT ./. 1 172417781 rs2157451 A G 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.05252,G/0.9475;Gene=C1orf105/NM_139240.3/1;CC=c.198+110A>G;VC=Intron;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:304:34.69:0.00:34.69:1.00:0.00:1.00:60:36.8:0:0:76:75:40:NM_139240.3(C1orf105) c.198+110A>G,NM_139240.3(C1orf105) c.198+110A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 172421744 rs2285176 G A 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5819,A/0.4181;PC=0.001;Gene=C1orf105/NM_139240.3/1;CC=c.199-3811G>A;VC=Intron;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:230:27.16:27.16:0.00:1.00:1.00:0.00:60:39.9:0:0:37:113:19:NM_139240.3(C1orf105) c.199-3811G>A,NM_139240.3(C1orf105) c.199-3811G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 172422330 . G . . NT END=172425554;NT GT ./. 1 172425529 rs2285170 C G 124 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.5809,A/.,G/0.4191;Gene=C1orf105/NM_139240.3/1;CC=c.199-26C>G;VC=Intron;Gene=C1orf105/NM_001300760.1/0;CC=c.169-26C>G;VC=Intron;DM=C1orf105/DUF4548;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:G:36:29:0:0:36:1067:123.58:77.02:46.56:1.00:1.00:1.00:60:38.7:0:0:45:102:20:NM_139240.3(C1orf105) c.199-26C>G,NM_139240.3(C1orf105) c.199-26C>G:0.45,0.45:0.367061,0.367061 1 172425630 . G . . NT END=172431317;NT GT ./. 1 172431210 rs4916261 G A 48 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.152,A/0.848;Gene=C1orf105/NM_139240.3/1;CC=c.274-108G>A;VC=Intron;Gene=C1orf105/NM_001300760.1/0;CC=c.244-108G>A;VC=Intron;DM=C1orf105/DUF4548;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:0:13:415:47.70:45.81:1.89:1.00:1.00:1.00:60:32.7:0:0:38:112:20:NM_139240.3(C1orf105) c.274-108G>A,NM_139240.3(C1orf105) c.274-108G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 172431386 . G . . NT END=172434438;NT GT ./. 1 172434247 rs9425620 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1597,T/0.8403;Gene=C1orf105/NM_139240.3/1;CC=c.342-192C>T;VC=Intron;Gene=C1orf105/NM_001300760.1/0;CC=c.312-192C>T;VC=Intron;DM=C1orf105/DUF4548;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:226:25.94:25.94:0.00:1.00:1.00:0.00:60:70.9:0:0:49:101:26:NM_139240.3(C1orf105) c.342-192C>T,NM_139240.3(C1orf105) c.342-192C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 172434309 rs9425328 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1595,A/0.8405;Gene=C1orf105/NM_139240.3/1;CC=c.342-130G>A;VC=Intron;Gene=C1orf105/NM_001300760.1/0;CC=c.312-130G>A;VC=Intron;DM=C1orf105/DUF4548;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:201:23.39:23.39:0.00:1.00:1.00:0.00:60:78.7:0:0:92:59:20:NM_139240.3(C1orf105) c.342-130G>A,NM_139240.3(C1orf105) c.342-130G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 172434375 rs2901655 G A 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1522,A/0.8478;Gene=C1orf105/NM_139240.3/1;CC=c.342-64G>A;VC=Intron;Gene=C1orf105/NM_001300760.1/0;CC=c.312-64G>A;VC=Intron;DM=C1orf105/DUF4548;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:8:0:0:9:279:32.16:20.78:11.38:1.00:1.00:1.00:60:46.9:0:0:22:127:14:NM_139240.3(C1orf105) c.342-64G>A,NM_139240.3(C1orf105) c.342-64G>A:0.85,0.85:0.761279,0.761279 1 172434504 . G . . NT END=172437588;NT GT ./. 1 172437592 rs1129942 G A 210 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.1587,A/0.8413;PC=0.010;Gene=C1orf105/NM_139240.3/1;CC=c.410G>A;ProtCh=p.S137N;VC=Missense;Gene=C1orf105/NM_001300760.1/0;CC=c.380G>A;ProtCh=p.S127N;VC=Missense;DM=C1orf105/DUF4548;DM=C1orf105/DUF4548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:52:0:0:60:1813:209.69:152.35:57.34:1.00:1.00:1.00:60:39.5:0:0:54:94:36:NM_139240.3(C1orf105) c.410G>A (p.Ser137Asn),NM_139240.3(C1orf105) c.410G>A (p.Ser137Asn):0.85,0.85:0.758881,0.758881 1 172437735 . G . . NT END=172501612;NT GT ./. 1 172501643 rs2239816 T C 149 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.7502,C/0.2498;Gene=SUCO/NM_016227.3/0;CC=c.31T>C;ProtCh=p.S11P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:94:82:0:0:47,47:1548,1467:148.93,0.00:109.80,0.00:39.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,5.3:0,0:0,0:57,73:94,78:33,26:NM_014283.3(SUCO) c.-316-u617T>C,-:0.22,-:0.234623,- 1 172501955 . G . . NT END=172502259;NT GT ./. 1 172502041 rs10798043 A G 209 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=2813;Gene=SUCO/NM_016227.3/0;CC=c.326+103A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:G:56:25:0:0:56:1821:208.69:85.26:123.43:1.00:1.00:1.00:60:45.0:0:0:99:51:42:NM_014283.3(SUCO) c.-316-u219A>G,NM_014283.3(SUCO) c.-316-u219A>G:1,1:NOT_FOUND,NOT_FOUND 1 172502340 rs2285143 T C 216 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=168;DB;DBA=NA;PAF=T/0.6364,C/0.3636;PC=0.109;Gene=SUCO/NM_016227.3/0;CC=c.350T>C;ProtCh=p.L117P;VC=Missense;Gene=SUCO/NM_001282750.1/0;CC=c.-236T>C;VC=5UTR;Gene=SUCO/NM_001282751.1/0;CC=c.-1765T>C;VC=5UTR;Gene=SUCO/NM_014283.4/1;CC=c.-236T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:168:124:0:0:77,1,90:2293,5,3043:215.78,-0.22,0.00:140.81,-0.10,0.00:74.97,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.0,32.0,6.6:0,0,0:0,0,0:75,92,81:67,59,65:39,0,32:NM_014283.3(SUCO) c.-236T>C,-:0.29,-:NOT_FOUND,- 1 172502479 rs2285144 T C 589 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=164;DB;DBA=NA;PAF=T/0.4105,A/.,C/0.5895,G/.;PC=0.960;Gene=SUCO/NM_016227.3/0;CC=c.489T>C;ProtCh=p.I163=;VC=Silent;Gene=SUCO/NM_001282750.1/0;CC=c.-97T>C;VC=5UTR;Gene=SUCO/NM_001282751.1/0;CC=c.-1626T>C;VC=5UTR;Gene=SUCO/NM_014283.4/1;CC=c.-97T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:164:97:0:0:161,1,2:5170,10,35:589.15,0.06,0.00:280.93,0.00,0.00:308.21,0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.7,70.0,148.0:0,0,0:0,0,0:72,48,102:75,103,42:41,0,17:NM_014283.3(SUCO) c.-97T>C,NM_014283.3(SUCO) c.-97T>C:0.54,0.54:0.625825,0.625825 1 172502638 . G . . NT END=172511027;NT GT ./. 1 172502727 rs55696309 TA T 85 nt VT=DEL;SST=Single;DP=64;DB;DBA=NA;PAF=TA/0.7454,T/0.2546;NP=96;Gene=SUCO/NM_016227.3/0;CC=c.647+91delA;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.62+91delA;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1468+91delA;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.62+91delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:64:14:0:29:35,29:1116,899:0.00,84.60:0.00,8.94:0.00,75.66:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.7,15.6:1,0:0,0:99,97:50,51:33,35:-,NM_014283.3(SUCO) c.62+91delA:-,0.22:-,NOT_FOUND 1 172511052 . t . . NT END=172511840;NT GT ./. 1 172511171 rs12025433 C T 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7059,T/0.2941;Gene=SUCO/NM_016227.3/0;CC=c.647+8534C>T;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.62+8534C>T;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1468+8534C>T;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.62+8534C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:11:0:0:0:3,8:97,236:0.00,24.58:0.00,0.00:0.00,24.58:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,48.2:0,0:0,0:57,93:94,56:24,46:-,NM_014283.3(SUCO) c.62+8534C>T:-,0.25:-,NOT_FOUND 1 172511969 rs12087284 G A 302 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.4149,A/0.5851;Gene=SUCO/NM_016227.3/0;CC=c.648-8683G>A;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.63-8683G>A;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1467-8683G>A;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.63-8683G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:80:52:0:0:80:2638:301.87:156.47:145.40:1.00:1.00:1.00:60:41.1:0:0:71:78:30:NM_014283.3(SUCO) c.63-8683G>A,NM_014283.3(SUCO) c.63-8683G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 172512179 rs376751927 T TA 10 idl,rn VT=INS;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=1;PC=0.047;Gene=SUCO/NM_016227.3/0;CC=c.648-8461dupA;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.63-8461dupA;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1467-8461dupA;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.63-8461dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,T,TA,D:59:26:5:4:2,49,5,3:44,1493,146,122:1.91,0.00,9.76,6.44:-0.22,0.00,4.58,2.24:2.13,0.00,5.18,4.20:0.00,0.00,0.69,0.00:0.00,0.00,0.78,0.00:0.00,0.00,0.94,0.00:60,60,60,60:52.5,15.9,15.0,4.0:1,0,0,1:0,0,0,0:15,112,104,93:135,38,47,57:14,32,7,25:-,NM_014283.3(SUCO) c.63-8473_63-8472insA:-,NOT_FOUND:-,NOT_FOUND 1 172512195 . A . . NT END=172513251;NT GT ./. 1 172513340 . A . . NT END=172519968;NT GT ./. 1 172520084 . t . . NT END=172520651;NT GT ./. 1 172520767 . G . . NT END=172521716;NT GT ./. 1 172521828 . T . . NT END=172522331;NT GT ./. 1 172521886 rs1557561 A G 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9657,G/0.03435;Gene=SUCO/NM_016227.3/0;CC=c.762+1120A>G;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.177+1120A>G;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1352-514A>G;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.178-514A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:3:0:0:7,7:222,238:0.00,22.92:0.00,5.36:0.00,17.56:0.00,0.99:0.00,0.89:0.00,0.98:60,60:0.0,34.0:0,0:0,0:95,93:52,58:53,38:-,NM_014283.3(SUCO) c.178-514A>G:-,0.05:-,NOT_FOUND 1 172522511 . G . . NT END=172524478;NT GT ./. 1 172522602 rs1159378 G A 48 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.7053,A/0.2947;PC=0.004;Gene=SUCO/NM_016227.3/0;CC=c.762+1836G>A;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.177+1836G>A;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1242+92G>A;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.288+92G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:A,G:20:3:0:0:14,6:465,202:47.87,0.00:1.14,0.00:46.73,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:40.9,5.7:0,0:0,0:115,89:34,61:21,26:NM_014283.3(SUCO) c.288+92G>A,-:0.25,-:NOT_FOUND,- 1 172524376 rs77582998 A C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9657,C/0.03435;PC=0.016;Gene=SUCO/NM_016227.3/0;CC=c.763-633A>C;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.178-633A>C;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1241-633A>C;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.289-633A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:15:0:0:8,7:272,238:0.00,22.64:0.00,22.64:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:1.4,34.0:0,0:0,0:48,49:102,102:19,17:-,NM_014283.3(SUCO) c.289-633A>C:-,0.05:-,NOT_FOUND 1 172524487 . t . . NT END=172524963;NT GT ./. 1 172524760 rs78410476 T C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9932,C/0.006789;NP=13;Gene=SUCO/NM_016227.3/0;CC=c.763-249T>C;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.178-249T>C;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1241-249T>C;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.289-249T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:13:6:0:0:8,5:225,165:22.50,0.00:5.20,0.00:17.30,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:51.9,0.0:0,0:0,0:113,91:37,59:33,45:NM_014283.3(SUCO) c.289-249T>C,-:0.01,-:NOT_FOUND,- 1 172524788 rs2239817 T A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6999,A/0.3001;PC=0.001;Gene=SUCO/NM_016227.3/0;CC=c.763-221T>A;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.178-221T>A;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1241-221T>A;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.289-221T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:A,T:14:10:0:0:6,8:172,253:15.88,0.00:8.43,0.00:7.45,0.00:0.96,0.00:0.99,0.00:0.89,0.00:60,60:59.2,0.0:0,0:0,0:46,28:104,122:20,26:NM_014283.3(SUCO) c.289-221T>A,-:0.25,-:NOT_FOUND,- 1 172525164 . G . . NT END=172525736;NT GT ./. 1 172525875 . A . . NT END=172526100;NT GT ./. 1 172525959 rs2472550 C T 128 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.4764,T/0.5236;PC=0.002;Gene=SUCO/NM_016227.3/0;CC=c.918-461C>T;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.333-461C>T;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-1086-461C>T;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.444-461C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:20:0:0:37:1104:127.94:62.84:65.09:1.00:1.00:1.00:60:40.8:0:0:81:70:33:NM_014283.3(SUCO) c.444-461C>T,NM_014283.3(SUCO) c.444-461C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 172526252 . T . . NT END=172526419;NT GT ./. 1 172526558 . G . . NT END=172526783;NT GT ./. 1 172526935 . G . . NT END=172537475;NT GT ./. 1 172537600 . A . . NT END=172538158;NT GT ./. 1 172538283 . G . . NT END=172538503;NT GT ./. 1 172538629 . T . . NT END=172539119;NT GT ./. 1 172539312 . G . . NT END=172539802;NT GT ./. 1 172539442 rs3752515 A G 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4155,G/0.5845;Gene=SUCO/NM_016227.3/0;CC=c.1455+131A>G;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.870+131A>G;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-549+131A>G;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.981+131A>G;VC=Intron;DM=SUCO/Sad1_UNC;DM=SUCO/Sad1_UNC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:1:0:0:13:413:47.46:3.78:43.69:1.00:1.00:1.00:60:46.8:0:0:94:57:50:NM_014283.3(SUCO) c.981+131A>G,NM_014283.3(SUCO) c.981+131A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 172539871 . G . . NT END=172543030;NT GT ./. 1 172542787 rs12120798 A T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6959,T/0.3041;PC=0.003;Gene=SUCO/NM_016227.3/0;CC=c.1524-244A>T;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.939-244A>T;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-480-244A>T;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.1050-244A>T;VC=Intron;DM=SUCO/Sad1_UNC;DM=SUCO/Sad1_UNC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,T:6:6:0:0:1,5:32,163:0.00,17.51:0.00,17.51:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:25.0,35.0:0,0:0,0:136,120:15,31:0,26:-,NM_014283.3(SUCO) c.1050-244A>T:-,0.25:-,NOT_FOUND 1 172543139 . G . . NT END=172543974;NT GT ./. 1 172544081 . T . . NT END=172544657;NT GT ./. 1 172544764 . G . . NT END=172545995;NT GT ./. 1 172544877 rs76108041 A C 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9657,C/0.03435;Gene=SUCO/NM_016227.3/0;CC=c.1737+114A>C;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.1152+114A>C;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-267+114A>C;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.1263+114A>C;VC=Intron;DM=SUCO/Sad1_UNC;DM=SUCO/Sad1_UNC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C:7:0:0:0:3,4:91,112:0.00,11.01:0.00,0.00:0.00,11.01:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,33.2:0,0:0,0:90,76:60,75:10,21:-,NM_014283.3(SUCO) c.1263+114A>C:-,0.05:-,NOT_FOUND 1 172546017 . T . . NT END=172546220;NT GT ./. 1 172546020 rs6424973 G A 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4161,A/0.5839;Gene=SUCO/NM_016227.3/0;CC=c.1738-884G>A;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.1153-659G>A;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-266-659G>A;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.1264-659G>A;VC=Intron;DM=SUCO/Sad1_UNC;DM=SUCO/Sad1_UNC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:22:0:0:29:937:107.52:61.95:45.57:1.00:1.00:1.00:60:33.3:0:0:78:72:36:NM_014283.3(SUCO) c.1264-659G>A,NM_014283.3(SUCO) c.1264-659G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 172546277 . a . . NT END=172546678;NT GT ./. 1 172546700 . G . . NT END=172546754;NT GT ./. 1 172546847 . T . . NT END=172546903;NT GT ./. 1 172546960 . G . . NT END=172547437;NT GT ./. 1 172547134 rs397688530 T TA 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6953,TA/0.3047;DB;DBA=NA;PAF=T/0.6953,TA/0.3047;NP=112;PC=0.001;Gene=SUCO/NM_016227.3/0;CC=c.1793+185dupA;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.1229+185dupA;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-190+185dupA;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.1340+185dupA;VC=Intron;DM=SUCO/Sad1_UNC;DM=SUCO/Sad1_UNC;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:T,TA:8:1:3:0:5,3:153,88:0.00,7.93:0.00,2.45:0.00,5.48:0.00,0.67:0.00,0.58:0.00,0.95:60,60:9.4,3.7:0,0:0,0:128,77:23,74:10,39:-,NM_014283.3(SUCO) c.1340+175_1340+176insA:-,NOT_FOUND:-,NOT_FOUND 1 172547465 rs2285664 A G 42 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.7458,G/0.2542;PC=1.000;Gene=SUCO/NM_016227.3/0;CC=c.1821A>G;ProtCh=p.E607=;VC=Silent;Gene=SUCO/NM_001282750.1/0;CC=c.1257A>G;ProtCh=p.E419=;VC=Silent;Gene=SUCO/NM_001282751.1/0;CC=c.-162A>G;VC=5UTR;Gene=SUCO/NM_014283.4/1;CC=c.1368A>G;ProtCh=p.E456=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:28:0:0:18,13:593,445:0.00,41.55:0.00,28.73:0.00,12.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,35.2:0,0:0,0:79,71:50,77:37,32:-,NM_014283.3(SUCO) c.1368A>G (p.(=)):-,0.21:-,0.23789 1 172547530 . G . . NT END=172547658;NT GT ./. 1 172547725 . C . . NT END=172548341;NT GT ./. 1 172548301 rs41264544 C G 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9659,G/0.03415;PC=0.001;Gene=SUCO/NM_016227.3/0;CC=c.1886-41C>G;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.1322-41C>G;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.-97-41C>G;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.1433-41C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:12:10:0:0:6,6:214,199:0.00,19.15:0.00,10.66:0.00,8.49:0.00,0.98:0.00,0.95:0.00,0.73:60,60:0.0,33.2:0,0:0,0:42,24:103,125:17,18:-,NM_014283.3(SUCO) c.1433-41C>G:-,0.05:-,0.071682 1 172548408 . G . . NT END=172553474;NT GT ./. 1 172553544 . T . . NT END=172554157;NT GT ./. 1 172554227 . G . . NT END=172554314;NT GT ./. 1 172554406 . T . . NT END=172554997;NT GT ./. 1 172555089 . G . . NT END=172557216;NT GT ./. 1 172558524 rs41264546 A G 93 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.9657,G/0.03435;Gene=SUCO/NM_016227.3/0;CC=c.2736A>G;ProtCh=p.P912=;VC=Silent;Gene=SUCO/NM_001282750.1/0;CC=c.1712+460A>G;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.594A>G;ProtCh=p.P198=;VC=Silent;Gene=SUCO/NM_014283.4/1;CC=c.2283A>G;ProtCh=p.P761=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:27:0:0:35,31:1095,977:0.00,92.68:0.00,31.58:0.00,61.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,38.8:0,0:0,0:78,52:70,98:26,30:-,NM_014283.3(SUCO) c.2283A>G (p.(=)):-,0.05:-,0.072001 1 172559067 . G . . NT END=172559440;NT GT ./. 1 172559529 . A . . NT END=172560123;NT GT ./. 1 172560212 . G . . NT END=172568520;NT GT ./. 1 172560287 rs113070747 A C 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.9932,C/0.006789;NP=81;PC=0.096;Gene=SUCO/NM_016227.3/0;CC=c.3366+76A>C;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.1800+76A>C;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.1224+76A>C;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.2913+76A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:4:0:0:11,11:360,356:0.00,34.22:0.00,3.22:0.00,31.00:0.00,1.00:0.00,0.51:0.00,1.00:60,60:0.7,35.0:0,0:0,0:93,117:58,34:50,22:-,NM_014283.3(SUCO) c.2913+76A>C:-,0.01:-,NOT_FOUND 1 172568626 . a . . NT END=172569203;NT GT ./. 1 172569176 . CA C 6 rn VT=DEL;SST=Single;DP=39;NP=12;PC=0.020;Gene=SUCO/NM_016227.3/0;CC=c.3367-19delA;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.1801-19delA;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.1225-19delA;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.2914-19delA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,CA,T,C:39:36:0:3:1,33,2,3:10,1073,18,95:-0.15,0.00,-0.14,6.45:-0.30,0.00,0.01,5.29:0.15,0.00,-0.15,1.16:0.00,0.00,0.00,0.38:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.56:60,60,60,70:10.0,5.9,137.0,0.0:0,0,0,0:0,0,0,0:19,66,113,33:132,82,21,116:0,44,24,8:-,NM_014283.3(SUCO) c.2914-27delA:-,NOT_FOUND:-,NOT_FOUND 1 172569309 . G . . NT END=172571152;NT GT ./. 1 172571359 . G . . NT END=172571516;NT GT ./. 1 172571467 rs79032593 T C 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.9657,C/0.03435;PC=0.005;Gene=SUCO/NM_016227.3/0;CC=c.3626+109T>C;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.2060+109T>C;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.1484+109T>C;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.3173+109T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:18:0:0:21,12:635,411:64.09,0.00:30.70,0.00:33.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,10.9:0,0:0,0:67,64:82,86:38,12:NM_014283.3(SUCO) c.3173+109T>C,-:0.05,-:NOT_FOUND,- 1 172571568 rs3830150 A G 40 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6957,G/0.3043;PC=0.001;Gene=SUCO/NM_016227.3/0;CC=c.3626+210A>G;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.2060+210A>G;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.1484+210A>G;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.3173+210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:33:0:0:30,14:960,457:0.00,40.43:0.00,25.24:0.00,15.19:0.00,1.00:0.00,1.00:0.00,0.97:60,60:16.3,33.4:0,0:0,0:74,83:69,53:28,51:-,NM_014283.3(SUCO) c.3173+210A>G:-,0.26:-,NOT_FOUND 1 172571928 . G . . NT END=172577203;NT GT ./. 1 172577260 . A . . NT END=172577886;NT GT ./. 1 172577795 rs111441187 G A 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9932,A/0.006789;NP=91;Gene=SUCO/NM_016227.3/0;CC=c.3719-92G>A;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.2153-92G>A;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.1577-92G>A;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.3266-92G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:11:10:0:0:7,4:195,83:19.67,0.00:16.58,0.00:3.09,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:50.6,3.5:0,0:0,0:45,48:106,103:24,45:NM_014283.3(SUCO) c.3266-92G>A,-:0.01,-:NOT_FOUND,- 1 172577864 rs372623434 CT C 20 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=94;PC=0.599;Gene=SUCO/NM_016227.3/0;CC=c.3719-9delT;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.2153-9delT;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.1577-9delT;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.3266-9delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:CT,T,I,C:25:23:3:9:14,1,3,7:461,13,100,288:0.00,0.26,7.85,19.81:0.00,-0.18,6.55,15.37:0.00,0.44,1.31,4.45:0.00,0.00,0.00,0.96:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.95:60,60,60,60:43.0,54.0,101.3,47.7:0,0,0,2:0,0,0,0:41,7,68,42:103,144,82,101:31,0,6,13:-,NM_014283.3(SUCO) c.3266-22delT:-,NOT_FOUND:-,NOT_FOUND 1 172577943 . G . . NT END=172578370;NT GT ./. 1 172578357 rs397780847 A AT 66 rn VT=INS;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.7067,AT/0.2933;DB;DBA=NA;PAF=A/0.7067,AT/0.2933;NP=229;Gene=SUCO/NM_016227.3/0;CC=c.3774+426_3774+427insT;VC=Intron;Gene=SUCO/NM_001282750.1/0;CC=c.2208+426_2208+427insT;VC=Intron;Gene=SUCO/NM_001282751.1/0;CC=c.1632+426_1632+427insT;VC=Intron;Gene=SUCO/NM_014283.4/1;CC=c.3321+426_3321+427insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT,D:62:48:23:3:34,2,23,3:1063,62,719,94:0.00,3.69,66.14,6.16:0.00,-0.28,51.54,3.07:0.00,3.97,14.60,3.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:14.2,46.5,18.2,3.7:1,1,0,0:0,0,0,0:68,47,45,20:82,89,101,130:24,12,31,16:-,NM_014283.3(SUCO) c.3321+415_3321+416insT:-,NOT_FOUND:-,NOT_FOUND 1 172579400 . A . . NT END=172628341;NT GT ./. 1 172612940 rs59137883 TGC T 6 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=5;PC=0.004;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:TGC,T:5:4:0:3:3,2:98,69:0.00,6.39:0.00,4.94:0.00,1.46:0.00,0.91:0.00,0.87:0.00,0.80:60,60:22.3,18.5:1,0:0,0:86,77:65,60:8,10:-,chr1 g.172612941_172612942delGC (intergenic):-,0.54:-,NOT_FOUND 1 172628690 . G . . NT END=172629234;NT GT ./. 1 172628781 . C CT 11 idl,rn VT=INS;SST=Single;DP=57;NP=2;Gene=FASLG/NM_000639.2/1;CC=c.348+105dupT;VC=Intron;Gene=FASLG/NM_001302746.1/0;CC=c.348+105dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,G,T,CT,D:55:20:5:7:44,1,1,5,4:1399,12,13,160,194:0.00,-0.10,-0.04,11.35,8.61:0.00,-0.07,-0.07,3.67,5.83:0.00,-0.02,0.03,7.68,2.78:0.00,0.00,0.00,0.71,0.00:0.00,0.00,0.00,0.73,0.00:0.00,0.00,0.00,0.96,0.00:60,60,60,60,60:13.9,63.0,95.0,10.4,17.8:1,0,0,0,2:0,0,0,0,0:112,83,148,124,92:37,67,3,27,51:27,0,0,7,24:-,NM_000639.1(FASLG) c.348+92_348+93insT:-,NOT_FOUND:-,NOT_FOUND 1 172628897 rs12720439 A G 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9499,G/0.05012;Gene=FASLG/NM_000639.2/1;CC=c.348+208A>G;VC=Intron;Gene=FASLG/NM_001302746.1/0;CC=c.348+208A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:0:0:0:10,9:289,318:0.00,30.40:0.00,0.00:0.00,30.40:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.0,47.0:0,0:0,0:115,103:35,47:31,14:-,NM_000639.1(FASLG) c.348+208A>G:-,0.06:-,NOT_FOUND 1 172629281 . G . . NT END=172633473;NT GT ./. 1 172633531 . G . . NT END=172634761;NT GT ./. 1 172634734 rs2639653 T C 231 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.004193,C/0.9958;PC=0.004;Gene=FASLG/NM_000639.2/1;CC=c.452-28T>C;VC=Intron;Gene=FASLG/NM_001302746.1/0;CC=c.*22-28T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:C:60:51:0:0:60:2021:230.71:175.84:54.86:1.00:1.00:1.00:60:39.2:0:0:37:112:23:NM_000639.1(FASLG) c.452-28T>C,NM_000639.1(FASLG) c.452-28T>C:0.99,0.99:0.986929,0.986929 1 172635157 . G . . NT END=173010506;NT GT ./. 1 172718106 rs115457643 A G 98 nt VT=SNV;PN=A;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.9223,G/0.07768;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:26:0:0:23,31:734,990:0.00,97.70:0.00,33.19:0.00,64.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,51.0:0,0:0,0:75,76:75,75:34,33:-,chr1 g.172718105A>G (intergenic):-,0.07:-,NOT_FOUND 1 172718554 rs143258936 TC T 93 nt VT=DEL;SST=Single;DP=90;DB;DBA=NA;PAF=TC/0.9237,T/0.07628;NP=837;PC=0.976;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:90:55:0:33:57,33:1787,1030:0.00,93.07:0.00,55.20:0.00,37.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,5.4:0,0:0,0:71,55:79,93:42,34:-,chr1 g.172718555delC (intergenic):-,0.08:-,NOT_FOUND 1 172718948 rs12144816 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8824,A/0.1176;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:0:0:0:3,1:96,35:10.05,0.00:0.00,0.00:10.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:41.3,0.0:0,0:0,0:82,142:68,8:19,0:chr1 g.172718947G>A (intergenic),-:0.11,-:NOT_FOUND,- 1 172749309 rs60588973 TACAC T 8 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=67;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TACAC,T:4:4:0:3:1,3:33,78:0.00,8.25:0.00,5.50:0.00,2.75:0.00,0.85:0.00,0.85:0.00,0.99:60,70:10.0,60.7:0,0:0,0:86,31:64,118:0,21:-,chr1 g.172749310_172749313delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 173010854 . C . . NT END=173013078;NT GT ./. 1 173013110 . C . . NT END=173019880;NT GT ./. 1 173020103 . G . . NT END=173155654;NT GT ./. 1 173110953 rs6663179 A G 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8303,G/0.1697;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:17:8:0:0:6,11:201,379:0.00,38.35:0.00,20.48:0.00,17.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,39.0:0,0:0,0:93,76:57,73:17,25:-,chr1 g.173110952A>G (intergenic):-,0.15:-,NOT_FOUND 1 173156005 . C . . NT END=173157659;NT GT ./. 1 173157709 . C . . NT END=173174449;NT GT ./. 1 173174693 . G . . NT END=173176162;NT GT ./. 1 173175947 rs79280399 C T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9553,T/0.04473;Gene=TNFSF4/NM_003326.4/1;CC=c.153+216G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,T:12:12:0:0:7,5:223,168:0.00,15.65:0.00,15.65:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:0.0,40.8:0,0:0,0:10,43:140,107:6,6:-,NM_003326.3(TNFSF4) c.153+216G>A:-,0.05:-,NOT_FOUND 1 173176316 . C . . NT END=173446536;NT GT ./. 1 173309462 . TACACAC T 8 rn VT=DEL;SST=Single;DP=6;NP=4;PC=0.002;Gene=LOC100506023/NR_037845.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:TACACAC,T:5:4:0:4:2,3:38,83:0.00,7.94:0.00,3.14:0.00,4.80:0.00,0.73:0.00,0.51:0.00,0.89:60,60:55.0,48.7:0,1:0,0:132,78:18,66:7,4:-,NR_037845.1(LOC100506023) n.656-100306_656-100301delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 173332629 rs1857066 A C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1669,C/0.8331;PC=0.998;Gene=LOC100506023/NR_037845.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:128:14.71:8.59:6.12:1.00:1.00:1.00:60:37.8:0:0:35:116:28:NR_037845.1(LOC100506023) n.655+98834T>G,NR_037845.1(LOC100506023) n.655+98834T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 173352048 rs947504 C A 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=117;NP=170;NP=2;NP=2;PC=0.001;Gene=LOC100506023/NR_037845.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:2:0:0:6:202:23.06:3.88:19.18:1.00:1.00:1.00:60:33.7:0:0:64:86:19:NR_037845.1(LOC100506023) n.655+79415G>T,NR_037845.1(LOC100506023) n.655+79415G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 173376842 rs60630699 G GGTGTGTGTGTGT 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=7;Gene=LOC100506023/NR_037845.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:G,GGTGTGTGTGTGT:4:5:4:0:1,3:13,109:0.00,9.18:0.00,9.18:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,83.7:0,1:0,0:148,30:3,118:0,12:-,NR_037845.1(LOC100506023) n.655+54620_655+54621insACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 173446338 rs529823220 A AGCCCC 11 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6599,AGCCCC/0.3401;DB;DBA=NA;PAF=A/0.6599,AGCCCC/0.3401;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AGCCCC:5:1:4:0:1,4:34,102:0.00,10.75:0.00,-0.35:0.00,11.10:0.00,0.96:0.00,0.87:0.00,0.96:60,60:10.0,2.8:0,0:0,0:86,74:65,40:0,39:-,NM_004905.2(PRDX6) c.-51-u148_-51-u147insGCCCC:-,NOT_FOUND:-,NOT_FOUND 1 173446632 . G . . NT END=173450464;NT GT ./. 1 173450622 . G . . NT END=173454499;NT GT ./. 1 173454647 . G . . NT END=173455393;NT GT ./. 1 173455541 . G . . NT END=173456873;NT GT ./. 1 173457003 . G . . NT END=173470232;NT GT ./. 1 173470237 . C . . NT END=173472404;NT GT ./. 1 173472466 . C . . NT END=173474385;NT GT ./. 1 173474471 . C . . NT END=173475994;NT GT ./. 1 173476181 . C . . NT END=173478706;NT GT ./. 1 173478839 . C . . NT END=173486675;NT GT ./. 1 173486844 . C . . NT END=173490439;NT GT ./. 1 173490407 rs5778771 TA T 17 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=51;Gene=SLC9C2/NM_178527.3/1;CC=c.2739+32delT;VC=Intron;DM=SLC9C2/cNMP_binding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,TA,I,T:36:36:2:14:1,26,2,7:11,774,65,340:-0.02,0.00,4.28,16.98:-0.24,0.00,4.37,6.88:0.22,0.00,-0.09,10.10:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.91:60,60,60,60:37.0,11.0,0.0,19.0:0,0,0,4:0,0,0,0:6,35,59,40:144,111,92,106:0,27,32,26:-,NM_178527.3(SLC9C2) c.2739+32delT:-,NOT_FOUND:-,NOT_FOUND 1 173490539 . C . . NT END=173493107;NT GT ./. 1 173493234 . C . . NT END=173493917;NT GT ./. 1 173494067 . C . . NT END=173495801;NT GT ./. 1 173495854 . C . . NT END=173499043;NT GT ./. 1 173499194 . C . . NT END=173502747;NT GT ./. 1 173502937 . C . . NT END=173503622;NT GT ./. 1 173503822 . C . . NT END=173504968;NT GT ./. 1 173505089 . C . . NT END=173506080;NT GT ./. 1 173506179 . C . . NT END=173516827;NT GT ./. 1 173516924 . C . . NT END=173517527;NT GT ./. 1 173517692 . C . . NT END=173523871;NT GT ./. 1 173523954 . C . . NT END=173526478;NT GT ./. 1 173526648 . C . . NT END=173542320;NT GT ./. 1 173542465 . C . . NT END=173545799;NT GT ./. 1 173545900 . C . . NT END=173550985;NT GT ./. 1 173545907 rs370456293 G GA 7 rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=1;PC=0.025;Gene=SLC9C2/NM_178527.3/1;CC=c.803-9dupT;VC=Intron;DM=SLC9C2/Na_H_Exchanger;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:C,G,GA,D:38:28:3:1:1,33,3,1:10,1082,96,34:-0.15,0.00,6.55,1.92:-0.18,0.00,5.84,0.97:0.02,0.00,0.71,0.95:0.00,0.00,0.38,0.00:0.00,0.00,0.79,0.00:0.00,0.00,0.80,0.00:60,60,60,60:74.0,11.6,3.0,0.0:0,0,0,0:0,0,0,0:53,119,87,76:97,30,64,75:0,20,17,0:-,NM_178527.3(SLC9C2) c.803-9_803-8insT:-,NOT_FOUND:-,NOT_FOUND 1 173551148 . C . . NT END=173552644;NT GT ./. 1 173552762 . C . . NT END=173556803;NT GT ./. 1 173556699 rs301698 G T 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.01458,T/0.9854;Gene=SLC9C2/NM_178527.3/1;CC=c.523+105C>A;VC=Intron;DM=SLC9C2/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:334:38.59:38.59:0.00:1.00:1.00:0.00:60:34.3:0:0:32:119:14:NM_178527.3(SLC9C2) c.523+105C>A,NM_178527.3(SLC9C2) c.523+105C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 173556970 . C . . NT END=173567042;NT GT ./. 1 173567172 . C . . NT END=173569255;NT GT ./. 1 173569357 . c . . NT END=173570788;NT GT ./. 1 173570916 . T . . NT END=173579283;NT GT ./. 1 173579355 . C . . NT END=173593925;NT GT ./. 1 173594065 . C . . NT END=173596203;NT GT ./. 1 173594213 rs301701 T C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.867,C/0.133;Gene=ANKRD45/NM_198493.2/1;CC=c.592-149A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T:8:0:0:0:7,1:233,33:25.33,0.00:0.00,0.00:25.33,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.3,0.0:0,0:0,0:71,46:80,105:59,0:NM_198493.2(ANKRD45) c.592-149A>G,-:0.14,-:NOT_FOUND,- 1 173596299 . C . . NT END=173604660;NT GT ./. 1 173604985 . G . . NT END=173605965;NT GT ./. 1 173606176 . A . . NT END=173615984;NT GT ./. 1 173616153 . C . . NT END=173628229;NT GT ./. 1 173628558 . T . . NT END=173685182;NT GT ./. 1 173632193 rs60072209 A AAC 9 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;NP=10;PC=0.077;Gene=ANKRD45/NM_198493.2/1;CC=c.-15-3622_-15-3621insGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,AAC:9:8:3:0:6,3:168,100:0.00,8.95:0.00,7.51:0.00,1.44:0.00,0.64:0.00,0.94:0.00,0.73:60,60:33.3,0.0:1,0:0,0:85,32:65,118:31,21:-,NM_198493.2(ANKRD45) c.-15-3622_-15-3621insGT:-,NOT_FOUND:-,NOT_FOUND 1 173685206 . G . . NT END=173702851;NT GT ./. 1 173703426 . G . . NT END=173720902;NT GT ./. 1 173721062 . G . . NT END=173722351;NT GT ./. 1 173722447 . G . . NT END=173725061;NT GT ./. 1 173725178 . G . . NT END=173726114;NT GT ./. 1 173726299 . G . . NT END=173735284;NT GT ./. 1 173735429 . G . . NT END=173743443;NT GT ./. 1 173743152 rs397721078 CA C 10 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CA/0.4307,C/0.5693;DB;DBA=NA;PAF=CA/0.4307,C/0.5693;NP=7;PC=0.005;Gene=KLHL20/NM_014458.3/1;CC=c.1296-274delA;VC=Intron;DM=KLHL20/Kelch_1;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:5:0:5:3:151:10.46:10.46:0.00:0.78:0.78:0.00:70:90.3:2:0:40:109:26:NM_014458.3(KLHL20) c.1296-291delA,NM_014458.3(KLHL20) c.1296-291delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 173743578 . G . . NT END=173744772;NT GT ./. 1 173744982 . G . . NT END=173751261;NT GT ./. 1 173751369 . G . . NT END=173754300;NT GT ./. 1 173754386 . A . . NT END=173769585;NT GT ./. 1 173769658 . C . . NT END=173772100;NT GT ./. 1 173772644 . C . . NT END=173776404;NT GT ./. 1 173776657 . C . . NT END=173780269;NT GT ./. 1 173780438 . G . . NT END=173794367;NT GT ./. 1 173794496 . T . . NT END=173795824;NT GT ./. 1 173794587 rs55949406 C CATTATT 58 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.983,T/0.01697;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;Gene=DARS2/NM_018122.4/1;CC=c.127+129_127+130insATTATT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CATTATT:39:9:24:0:19,20:619,721:0.00,57.82:0.00,10.05:0.00,47.76:0.00,1.00:0.00,0.99:0.00,1.00:60,70:12.3,12.7:0,4:0,0:131,56:20,95:12,24:-,NM_018122.4(DARS2) c.127+93_127+94insATTATT:-,NOT_FOUND:-,NOT_FOUND 1 173795803 rs397968849 C CT 10 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1;NP=3;PC=0.051;Gene=DARS2/NM_018122.4/1;CC=c.128-5dupT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,CT,D:32:26:4:5:24,4,4:754,127,117:0.00,9.61,8.62:0.00,8.63,4.87:0.00,0.97,3.75:0.00,0.63,0.00:0.00,0.92,0.00:0.00,0.77,0.00:60,60,60:34.1,60.5,75.8:0,0,0:0,0,0:44,30,20:90,120,120:31,7,12:-,NM_018122.4(DARS2) c.128-22_128-21insT:-,NOT_FOUND:-,NOT_FOUND 1 173795926 . T . . NT END=173797470;NT GT ./. 1 173796169 rs2068871 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8858,G/0.1142;Gene=DARS2/NM_018122.4/1;CC=c.227+245A>G;VC=Intron;DM=DARS2/tRNA_anti-codon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:8:2:0:0:3,5:98,157:0.00,15.78:0.00,5.94:0.00,9.84:0.00,0.97:0.00,0.88:0.00,1.00:60,60:10.7,44.0:0,0:0,0:119,69:30,81:23,27:-,NM_018122.4(DARS2) c.227+245A>G:-,0.12:-,NOT_FOUND 1 173797451 rs540854916 TC T 7 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=206;PC=0.101;Gene=DARS2/NM_018122.4/1;CC=c.228-10delC;VC=Intron;DM=DARS2/tRNA_anti-codon;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,TC,I,T:36:28:2:3:1,30,2,3:9,871,55,95:-0.18,0.00,3.21,6.57:-0.25,0.00,0.70,5.78:0.08,0.00,2.51,0.79:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.66:60,60,60,60:17.0,31.6,0.0,11.3:0,0,0,0:0,0,0,0:25,59,39,77:126,85,111,74:0,39,19,5:-,NM_018122.4(DARS2) c.228-19delC:-,NOT_FOUND:-,NOT_FOUND 1 173797538 . G . . NT END=173799797;NT GT ./. 1 173799901 . T . . NT END=173800672;NT GT ./. 1 173800770 . T . . NT END=173802513;NT GT ./. 1 173802639 . T . . NT END=173803610;NT GT ./. 1 173803659 . T . . NT END=173806077;NT GT ./. 1 173806186 . T . . NT END=173807327;NT GT ./. 1 173807157 rs3791021 C T 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7566,T/0.2434;PC=0.003;Gene=DARS2/NM_018122.4/1;CC=c.771-171C>T;VC=Intron;DM=DARS2/tRNA-synt_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,T:9:9:0:0:4,5:123,173:0.00,17.00:0.00,17.00:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:5.2,37.0:0,0:0,0:15,33:135,116:6,12:-,NM_018122.4(DARS2) c.771-171C>T:-,0.23:-,NOT_FOUND 1 173807399 . T . . NT END=173808504;NT GT ./. 1 173808686 . T . . NT END=173810003;NT GT ./. 1 173810113 . T . . NT END=173814366;NT GT ./. 1 173814258 rs77124001 T C 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8858,C/0.1142;Gene=DARS2/NM_018122.4/1;CC=c.1129-109T>C;VC=Intron;DM=DARS2/tRNA-synt_2;DM=DARS2/GAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:C,T:17:17:0:0:5,12:167,395:14.61,0.00:12.92,0.00:1.70,0.00:0.88,0.00:0.88,0.00:0.59,0.00:60,60:35.4,4.7:0,0:0,0:78,79:73,67:22,18:NM_018122.4(DARS2) c.1129-109T>C,-:0.12,-:NOT_FOUND,- 1 173814431 . T . . NT END=173819464;NT GT ./. 1 173819421 rs201467171 C CA 126 idl,rn VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=56;Gene=DARS2/NM_018122.4/1;CC=c.1192-29dupA;VC=Intron;DM=DARS2/tRNA-synt_2;DM=DARS2/GAD;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,C,CA,D:50:51:45:4:1,8,39,2:33,220,1371,132:1.95,0.00,126.23,4.40:-0.04,0.00,104.54,3.38:2.00,0.00,21.69,1.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:84.0,15.5,30.4,0.0:1,0,6,2:0,0,0,0:81,98,39,55:57,52,97,95:0,42,23,17:-,NM_018122.4(DARS2) c.1192-44_1192-43insA:-,NOT_FOUND:-,NOT_FOUND 1 173819619 . T . . NT END=173820973;NT GT ./. 1 173821471 . a . . NT END=173822486;NT GT ./. 1 173822707 . T . . NT END=173822932;NT GT ./. 1 173823045 . T . . NT END=173825803;NT GT ./. 1 173825881 . T . . NT END=173826655;NT GT ./. 1 173826845 . T . . NT END=173839363;NT GT ./. 1 173840287 . G . . NT END=173842604;NT GT ./. 1 173842467 rs9286895 A G 59 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.4649,G/0.5351;PC=0.158;Gene=ZBTB37/NM_032522.3/0;CC=c.924-138A>G;VC=Intron;Gene=ZBTB37/NM_001122770.1/1;CC=c.924-138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:25:25:0:0:6,19:201,558:0.00,58.79:0.00,58.79:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.0,33.2:0,0:0,0:62,23:89,128:26,18:-,NM_001122770.1(ZBTB37) c.924-138A>G:-,0.53:-,NOT_FOUND 1 173842782 . G . . NT END=173854773;NT GT ./. 1 173855208 rs16846520 A G 175 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.9052,G/0.09485;PC=0.980;Gene=ZBTB37/NM_001122770.1/1;CC=c.1458A>G;ProtCh=p.T486=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:117:59:0:0:58,59:1890,1820:0.00,174.83:0.00,73.07:0.00,101.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.9,40.9:0,0:0,0:71,74:79,74:27,39:-,NM_001122770.1(ZBTB37) c.1458A>G (p.(=)):-,0.1:-,0.101621 1 173855298 rs1322775 A T 117 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.4649,T/0.5351;Gene=ZBTB37/NM_001122770.1/1;CC=c.*36A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:88:38:0:0:48,40:1482,1242:0.00,116.94:0.00,32.04:0.00,84.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.5,38.4:0,0:0,0:84,92:54,51:27,35:-,NM_001122770.1(ZBTB37) c.*36A>T:-,0.53:-,0.45541 1 173855309 . G . . NT END=173873025;NT GT ./. 1 173873204 . C . . NT END=173876586;NT GT ./. 1 173876653 . C . . NT END=173878688;NT GT ./. 1 173876705 rs2759328 C T 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.873,T/0.127;Gene=SERPINC1/NM_000488.3/1;CC=c.1154-53G>A;VC=Intron;DM=SERPINC1/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:26:9:0:0:19,7:602,218:0.00,18.56:0.00,7.86:0.00,10.70:0.00,0.96:0.00,0.91:0.00,1.00:60,60:0.0,36.3:0,0:0,0:113,102:27,42:14,7:-,NM_000488.3(SERPINC1) c.1154-53G>A:-,0.13:-,0.094174 1 173878471 rs1799876 A G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.474,G/0.526;Gene=SERPINC1/NM_000488.3/1;CC=c.1153+219T>C;VC=Intron;DM=SERPINC1/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:5:5:0:0:2,3:61,83:0.00,8.27:0.00,8.27:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,33.3:0,0:0,0:42,36:108,114:39,4:-,NM_000488.3(SERPINC1) c.1153+219T>C:-,0.53:-,NOT_FOUND 1 173878832 rs5878 T C 186 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=T/0.4643,C/0.5357;PC=0.060;Gene=SERPINC1/NM_000488.3/1;CC=c.1011A>G;ProtCh=p.Q337=;VC=Silent;DM=SERPINC1/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:151:108:0:0:59,1,91:2013,9,3049:185.80,-0.22,0.00:100.45,-0.15,0.00:85.35,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:67.7,44.0,5.5:0,0,0:0,0,0:61,82,61:85,67,79:35,0,41:NM_000488.3(SERPINC1) c.1011A>G (p.(=)),-:0.53,-:0.488236,- 1 173878862 rs5877 T C 222 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=161;DB;DBA=NA;PAF=T/0.4547,C/0.5453;PC=1.000;Gene=SERPINC1/NM_000488.3/1;CC=c.981A>G;ProtCh=p.V327=;VC=Silent;DM=SERPINC1/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:161:118:0:0:72,1,88:2359,13,2938:222.42,-0.10,0.00:119.70,-0.12,0.00:102.71,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:61.6,165.0,4.1:0,0,0:0,0,0:57,133,77:94,18,70:38,0,34:NM_000488.3(SERPINC1) c.981A>G (p.(=)),-:0.55,-:0.483623,- 1 173879081 . C . . NT END=173879890;NT GT ./. 1 173880030 . C . . NT END=173880935;NT GT ./. 1 173881153 . C . . NT END=173883689;NT GT ./. 1 173884058 . C . . NT END=173884154;NT GT ./. 1 173884325 . C . . NT END=173886355;NT GT ./. 1 173886216 rs2227589 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8714,T/0.1286;Gene=SERPINC1/NM_000488.3/1;CC=c.41+141G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:12:12:0:0:3,9:104,300:0.00,31.36:0.00,31.36:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.3,37.0:0,0:0,0:62,48:89,103:39,27:-,NM_000488.3(SERPINC1) c.41+141G>A:-,0.12:-,NOT_FOUND 1 173886398 . G . . NT END=173907858;NT GT ./. 1 173908013 . C . . NT END=173910402;NT GT ./. 1 173910519 . C . . NT END=173912579;NT GT ./. 1 173912754 . C . . NT END=173915613;NT GT ./. 1 173915747 . C . . NT END=173915883;NT GT ./. 1 173915975 . C . . NT END=173916506;NT GT ./. 1 173916721 . C . . NT END=173921123;NT GT ./. 1 173921277 . C . . NT END=173930214;NT GT ./. 1 173921288 . G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;PC=0.098;Gene=RC3H1/NM_001300850.1/0;CC=c.2371-12C>T;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.2371-12C>T;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.2371-12C>T;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.2371-12C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:48:11:0:0:7,41:120,1116:6.87,0.00:-0.58,0.00:7.45,0.00:0.93,0.00:0.76,0.00:0.99,0.00:60,60:97.9,13.6:2,0:0,0:85,104:58,46:24,32:NM_172071.2(RC3H1) c.2371-12C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 173921292 . G A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;NP=150;PC=0.982;Gene=RC3H1/NM_001300850.1/0;CC=c.2371-16C>T;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.2371-16C>T;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.2371-16C>T;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.2371-16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,G:45:8:0:0:10,35:181,1055:12.57,0.00:-0.71,0.00:13.28,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:64.3,17.4:0,0:0,0:66,113:67,37:23,27:NM_172071.2(RC3H1) c.2371-16C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 173921301 rs556102525 C A 12 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=42;PC=0.654;Gene=RC3H1/NM_001300850.1/0;CC=c.2371-25G>T;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.2371-25G>T;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.2371-25G>T;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.2371-25G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,C,I,D:41:7:2:4:9,27,1,4:169,713,65,119:12.42,0.00,1.78,8.56:-0.47,0.00,2.01,-0.19:12.88,0.00,-0.24,8.76:0.99,0.00,0.00,0.00:0.78,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:47.7,31.9,13.0,13.0:0,0,1,0:0,0,0,0:51,122,99,65:62,28,51,83:22,20,17,7:NM_172071.2(RC3H1) c.2371-25G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 173930383 . C . . NT END=173930862;NT GT ./. 1 173931234 . C . . NT END=173933110;NT GT ./. 1 173933326 . C . . NT END=173933976;NT GT ./. 1 173933901 rs80142373 C T 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.884,T/0.116;Gene=RC3H1/NM_001300850.1/0;CC=c.1616+76G>A;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.1616+76G>A;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.1616+76G>A;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.1616+76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:15,13:448,409:0.00,38.69:0.00,33.36:0.00,5.33:0.00,1.00:0.00,1.00:0.00,0.92:60,60:10.9,40.0:0,0:0,0:62,36:89,114:20,36:-,NM_172071.2(RC3H1) c.1616+76G>A:-,0.11:-,NOT_FOUND 1 173934259 . C . . NT END=173939642;NT GT ./. 1 173939756 . C . . NT END=173941646;NT GT ./. 1 173941766 . C . . NT END=173947625;NT GT ./. 1 173947571 rs78576697 T C 98 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.8742,C/0.1258;Gene=RC3H1/NM_001300850.1/0;CC=c.1102+55A>G;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.1102+55A>G;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.1102+55A>G;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.1102+55A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:51:0:0:30,23:992,758:97.72,0.00:79.86,0.00:17.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,2.0:0,0:0,0:53,49:98,102:21,30:NM_172071.2(RC3H1) c.1102+55A>G,-:0.12,-:NOT_FOUND,- 1 173947759 . C . . NT END=173949946;NT GT ./. 1 173950148 . C . . NT END=173951864;NT GT ./. 1 173950282 rs1884994 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5222,C/0.4778;PC=0.003;Gene=RC3H1/NM_001300850.1/0;CC=c.769-135A>G;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.769-135A>G;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.769-135A>G;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.769-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:15:0:0:0:5,10:175,314:15.74,0.00:0.00,0.00:15.74,0.00:0.89,0.00:0.00,0.00:0.89,0.00:60,60:37.4,1.1:0,0:0,0:76,119:75,31:20,23:NM_172071.2(RC3H1) c.769-135A>G,-:0.46,-:NOT_FOUND,- 1 173952041 . C . . NT END=173952555;NT GT ./. 1 173952145 rs184446253 T C 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.9966,C/0.003395;NP=20;Gene=RC3H1/NM_001300850.1/0;CC=c.593-105A>G;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.593-105A>G;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.593-105A>G;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.593-105A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:3:0:0:14,19:432,591:40.12,0.00:3.23,0.00:36.89,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:34.3,6.9:0,0:0,0:80,102:70,48:23,35:NM_172071.2(RC3H1) c.593-105A>G,-:0.0018,-:NOT_FOUND,- 1 173952539 rs6686083 T A 129 nt VT=SNV;PN=C;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.5126,A/0.4874;Gene=RC3H1/NM_001300850.1/0;CC=c.592+17A>T;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.592+17A>T;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.592+17A>T;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.592+17A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:71:59:0:0:41,30:1305,994:128.99,0.00:102.80,0.00:26.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,11.5:0,0:0,0:67,68:84,78:36,35:NM_172071.2(RC3H1) c.592+17A>T,-:0.47,-:0.422805,- 1 173952796 . C . . NT END=173953636;NT GT ./. 1 173953758 . C . . NT END=173961892;NT GT ./. 1 173961835 rs200607410 C G 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=28;NP=6;Gene=RC3H1/NM_001300850.1/0;CC=c.231+58G>C;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.231+58G>C;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.231+58G>C;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.231+58G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:22:0:0:13,9:419,309:0.00,28.74:0.00,28.97:0.00,-0.23:0.00,1.00:0.00,1.00:0.00,0.71:60,60:25.8,103.2:1,2:0,0:54,83:97,68:27,13:-,NM_172071.2(RC3H1) c.231+58G>C:-,NOT_FOUND:-,NOT_FOUND 1 173961837 rs6425268 C G 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.759,G/0.241;Gene=RC3H1/NM_001300850.1/0;CC=c.231+56G>C;VC=Intron;Gene=RC3H1/NM_001300851.1/0;CC=c.231+56G>C;VC=Intron;Gene=RC3H1/NM_001300852.1/0;CC=c.231+56G>C;VC=Intron;Gene=RC3H1/NM_172071.3/1;CC=c.231+56G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,D:24:24:0:1:12,11,1:400,335,34:0.00,31.82,2.28:0.00,31.95,1.04:0.00,-0.13,1.24:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.76,0.00:60,60,60:16.2,96.5,7.0:0,1,0:0,0,0:29,89,36:120,62,115:27,12,0:-,NM_172071.2(RC3H1) c.231+56G>C:-,0.16:-,NOT_FOUND 1 173962124 . T . . NT END=174188295;NT GT ./. 1 173962216 . CT C 9 rn VT=DEL;SST=Single;DP=31;NP=18;PC=1.000;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CT,I,C:30:1:3:4:24,2,4:637,93,121:0.00,3.99,9.03:0.00,-0.01,-0.03:0.00,4.00,9.06:0.00,0.00,0.64:0.00,0.00,0.42:0.00,0.00,0.64:60,60,60:12.7,25.0,13.2:0,1,0:0,0,0:115,116,100:35,34,41:29,8,31:-,NM_172071.2(RC3H1) c.-87-u7delA:-,NOT_FOUND:-,NOT_FOUND 1 174188285 rs2103640 G A 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.7322,A/0.2678;PC=0.101;Gene=RABGAP1L/NM_014857.4/1;CC=c.-11G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:31:25:0:0:15,15,1:477,522,11:45.82,0.00,0.11:23.83,0.00,0.17:21.99,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.3,14.9,67.0:0,0,0:0,0,0:43,83,150:106,65,1:28,24,0:NM_014857.4(RABGAP1L) c.-11G>A,-:0.25,-:0.305167,- 1 174188434 . G . . NT END=174190087;NT GT ./. 1 174190303 . G . . NT END=174200282;NT GT ./. 1 174200494 . G . . NT END=174210620;NT GT ./. 1 174210796 . G . . NT END=174219612;NT GT ./. 1 174219398 rs16846809 A G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8868,G/0.1132;Gene=RABGAP1L/NM_014857.4/1;CC=c.718-215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,G:5:5:0:0:3,2:99,72:0.00,6.69:0.00,6.69:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:0.0,36.0:0,0:0,0:44,96:107,54:13,0:-,NM_014857.4(RABGAP1L) c.718-215A>G:-,0.11:-,NOT_FOUND 1 174219771 . G . . NT END=174221617;NT GT ./. 1 174221729 . G . . NT END=174241551;NT GT ./. 1 174221887 rs11351373 GT G 17 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GT/0.383,G/0.617;NP=593;PC=0.001;Gene=RABGAP1L/NM_014857.4/1;CC=c.986+162delT;VC=Intron;DM=RABGAP1L/DUF3694;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:5:5:150:17.38:0.00:17.38:1.00:0.00:1.00:60:19.4:0:0:79:71:33:NM_014857.4(RABGAP1L) c.986+160delT,NM_014857.4(RABGAP1L) c.986+160delT:0.59,0.59:NOT_FOUND,NOT_FOUND 1 174241619 . G . . NT END=174244970;NT GT ./. 1 174243744 rs61468070 C CTGTG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=16;NP=23;Gene=RABGAP1L/NM_014857.4/1;CC=c.1054-1194_1054-1193insGTGT;VC=Intron;DM=RABGAP1L/DUF3694;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTGTG:3:1:4:0:3:127:10.36:3.65:6.70:0.85:0.83:0.99:60:39.0:1:0:31:119:10:NM_014857.4(RABGAP1L) c.1054-1227_1054-1226insTGTG,NM_014857.4(RABGAP1L) c.1054-1227_1054-1226insTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 174245074 . G . . NT END=174247750;NT GT ./. 1 174247918 . G . . NT END=174274123;NT GT ./. 1 174274062 rs2142864 A G 33 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.732,G/0.268;Gene=RABGAP1L/NM_014857.4/1;CC=c.1324-62A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:19:0:0:9,10:281,336:0.00,32.66:0.00,31.25:0.00,1.41:0.00,1.00:0.00,1.00:0.00,0.95:60,60:5.7,39.6:0,0:0,0:34,64:117,82:19,17:-,NM_014857.4(RABGAP1L) c.1324-62A>G:-,0.25:-,NOT_FOUND 1 174274266 . G . . NT END=174340116;NT GT ./. 1 174274349 rs2860909 T G 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.7322,G/0.2678;Gene=RABGAP1L/NM_014857.4/1;CC=c.1465+84T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:27:11:0:0:17,10:521,312:52.41,0.00:13.49,0.00:38.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,8.2:0,0:0,0:116,102:35,42:29,12:NM_014857.4(RABGAP1L) c.1465+84T>G,-:0.25,-:NOT_FOUND,- 1 174339970 rs10912772 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6677,G/0.3323;Gene=RABGAP1L/NM_014857.4/1;CC=c.1466-147A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,G:7:7:0:0:3,4:70,127:0.00,12.55:0.00,12.55:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:11.3,34.5:0,0:0,0:50,48:101,103:48,34:-,NM_014857.4(RABGAP1L) c.1466-147A>G:-,0.31:-,NOT_FOUND 1 174340211 . G . . NT END=174363132;NT GT ./. 1 174362902 rs10912777 C A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6681,A/0.3319;PC=0.024;Gene=RABGAP1L/NM_014857.4/1;CC=c.1560-231C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,C:5:5:0:0:4,1:111,35:11.90,0.00:11.90,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:61.8,0.0:0,0:0,0:59,121:90,30:35,0:NM_014857.4(RABGAP1L) c.1560-231C>A,-:0.31,-:NOT_FOUND,- 1 174362965 rs10912778 T C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6679,C/0.3321;Gene=RABGAP1L/NM_014857.4/1;CC=c.1560-168T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,G,T:16:16:0:0:9,1,6:296,22,186:29.49,1.31,0.00:29.49,1.31,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:52.7,113.0,0.0:0,0,0:0,0,0:47,5,27:104,146,123:20,0,16:NM_014857.4(RABGAP1L) c.1560-168T>C,-:0.31,-:NOT_FOUND,- 1 174363284 . G . . NT END=174417249;NT GT ./. 1 174396282 rs67114581 ATG A 8 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=85;PC=0.001;Gene=RABGAP1L/NM_014857.4/1;CC=c.1710+33038_1710+33039delTG;VC=Intron;DM=RABGAP1L/RabGAP-TBC;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:ATG,A:4:4:0:3:1,3:31,80:0.00,8.44:0.00,6.57:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:157.0,54.3:0,0:0,0:13,39:137,99:0,13:-,NM_014857.4(RABGAP1L) c.1710+33000_1710+33001delTG:-,NOT_FOUND:-,NOT_FOUND 1 174417231 rs7516240 G A 320 nt VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.01478,A/0.9852,C/.;PC=0.020;Gene=RABGAP1L/NM_014857.4/1;CC=c.1710+53948G>A;VC=Intron;Gene=GPR52/NM_005684.4/1;CC=c.-19G>A;VC=5UTR;DM=RABGAP1L/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:91:79:0:0:90,1:2790,10:319.96,0.00:224.87,0.00:95.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,22.0:0,0:0,0:61,62:86,89:33,0:NM_005684.4(GPR52) c.-19G>A,NM_005684.4(GPR52) c.-19G>A:0.98,0.98:0.96863,0.96863 1 174418336 . A . . NT END=174516974;NT GT ./. 1 174516999 rs41266050 C T 35 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.8285,T/0.1715;PC=0.022;Gene=RABGAP1L/NM_014857.4/1;CC=c.1711-89514C>T;VC=Intron;DM=RABGAP1L/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:26:0:0:18,12:574,384:0.00,35.36:0.00,25.77:0.00,9.59:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.2,32.8:0,0:0,0:59,63:90,87:36,31:-,NM_014857.4(RABGAP1L) c.1711-89514C>T:-,0.16:-,NOT_FOUND 1 174517443 rs41266052 A G 55 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.882,G/0.118;PC=0.023;Gene=RABGAP1L/NM_014857.4/1;CC=c.1711-89070A>G;VC=Intron;DM=RABGAP1L/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:44:22:0:0:25,18,1:807,588,10:0.00,54.68,-0.05:0.00,19.72,0.07:0.00,34.96,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:14.2,34.8,45.0:0,0,0:0,0,0:76,101,130:75,50,20:31,31,0:-,NM_014857.4(RABGAP1L) c.1711-89070A>G:-,0.12:-,NOT_FOUND 1 174517700 . T . . NT END=174606512;NT GT ./. 1 174606602 rs61747504 A G 43 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.9968,G/0.003195;NP=27;PC=1.000;Gene=RABGAP1L/NM_014857.4/1;CC=c.1800A>G;ProtCh=p.Q600=;VC=Silent;DM=RABGAP1L/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:25:0:0:21,14:671,462:0.00,42.65:0.00,21.16:0.00,21.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.2,35.9:0,0:0,0:105,96:45,54:26,27:-,NM_014857.4(RABGAP1L) c.1800A>G (p.(=)):-,0.0014:-,0.003998 1 174606627 . G . . NT END=174652659;NT GT ./. 1 174652735 . G . . NT END=174668662;NT GT ./. 1 174668789 . G . . NT END=174671250;NT GT ./. 1 174671395 . G . . NT END=174721450;NT GT ./. 1 174721493 . G . . NT END=174769034;NT GT ./. 1 174769068 rs71805308 GCACACACACACACACACACACA G 302 idl VT=DEL;SST=Single;DP=189;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=156;Gene=RABGAP1L/NM_014857.4/1;CC=c.2212-11874_2212-11853delACACACACACACACACACACAC;VC=Intron;Gene=RABGAP1L/NM_001243765.1/0;CC=c.-375_-354delACACACACACACACACACACAC;VC=5UTR;DM=RABGAP1L/RabGAP-TBC;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCACACACACACACACACACACA,G:148:160:0:138:53,95:1485,4202:0.00,302.44:0.00,228.37:0.00,74.06:0.00,1.00:0.00,1.00:0.00,1.00:60,70:22.5,16.2:0,41:0,0:120,63:28,85:15,16:-,NM_014857.4(RABGAP1L) c.2212-11901_2212-11880delCACACACACACACACACACACA:-,NOT_FOUND:-,NOT_FOUND 1 174769070 rs72717613 A G 69 idl VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.8181,G/0.1819;NP=10;Gene=RABGAP1L/NM_014857.4/1;CC=c.2212-11900A>G;VC=Intron;Gene=RABGAP1L/NM_001243765.1/0;CC=c.-401A>G;VC=5UTR;DM=RABGAP1L/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:49:46:0:141:21,27,1:619,705,13:0.00,68.72,0.14:0.00,53.43,0.18:0.00,15.29,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.5,37.7,43.0:0,0,0:0,0,0:121,118,121:24,30,30:17,15,0:-,NM_014857.4(RABGAP1L) c.2212-11900A>G:-,NOT_FOUND:-,NOT_FOUND 1 174769084 . A G 149 idl VT=SNV;PN=C;NN=C;SST=Single;DP=92;PC=0.038;Gene=RABGAP1L/NM_014857.4/1;CC=c.2212-11886A>G;VC=Intron;Gene=RABGAP1L/NM_001243765.1/0;CC=c.-387A>G;VC=5UTR;DM=RABGAP1L/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:92:75:0:87:42,49,1:1370,1526,9:0.00,148.70,-0.12:0.00,113.78,-0.14:0.00,34.92,0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:26.6,14.7,9.0:1,46,1:0,0,0:123,60,77:16,90,73:13,18,0:-,NM_014857.4(RABGAP1L) c.2212-11886A>G:-,NOT_FOUND:-,NOT_FOUND 1 174769086 rs372961108 A G 24 idl VT=SNV;PN=C;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;PC=0.034;Gene=RABGAP1L/NM_014857.4/1;CC=c.2212-11884A>G;VC=Intron;Gene=RABGAP1L/NM_001243765.1/0;CC=c.-385A>G;VC=5UTR;DM=RABGAP1L/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:123:98:0:73:112,11:3547,352:0.00,24.37:0.00,17.01:0.00,7.37:0.00,0.98:0.00,1.00:0.00,0.97:60,60:19.5,6.3:51,10:0,0:77,68:70,82:38,13:-,NM_014857.4(RABGAP1L) c.2212-11884A>G:-,NOT_FOUND:-,NOT_FOUND 1 174769639 . G . . NT END=174780969;NT GT ./. 1 174781099 . G . . NT END=174843523;NT GT ./. 1 174843645 . G . . NT END=174844655;NT GT ./. 1 174843716 rs570203507 CTT C 14 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=RABGAP1L/NM_014857.4/1;CC=c.2340+62642_2340+62643delTT;VC=Intron;Gene=RABGAP1L/NM_001243765.1/0;CC=c.297+62642_297+62643delTT;VC=Intron;Gene=RABGAP1L/NM_001243763.1/0;CC=c.-104+96_-104+97delTT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:CTT,I,C:19:7:1:10:12,1,6:371,33,264:0.00,2.18,14.09:0.00,-0.10,-0.65:0.00,2.28,14.74:0.00,0.00,0.92:0.00,0.00,0.85:0.00,0.00,0.99:60,60,70:10.2,0.0,76.3:0,0,4:0,0,0:128,98,101:15,50,49:14,0,19:-,NM_014857.4(RABGAP1L) c.2340+62619_2340+62620delTT:-,NOT_FOUND:-,NOT_FOUND 1 174844852 . G . . NT END=174846529;NT GT ./. 1 174846744 . G . . NT END=174926593;NT GT ./. 1 174916115 rs192595774 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.061;Gene=RABGAP1L/NM_014857.4/1;CC=c.2341-10479G>A;VC=Intron;Gene=RABGAP1L/NM_001243765.1/0;CC=c.298-10479G>A;VC=Intron;Gene=RABGAP1L/NM_001243763.1/0;CC=c.112-10479G>A;VC=Intron;Gene=RABGAP1L/NM_001035230.2/0;CC=c.112-10479G>A;VC=Intron;Gene=LOC101928696/NR_121196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:2:0:0:3,1:101,35:10.55,0.00:3.35,0.00:7.20,0.00:0.85,0.00:0.95,0.00:0.99,0.00:60,19:86.7,32.0:0,0:0,0:81,23:65,38:1,0:NM_014857.4(RABGAP1L) c.2341-10479G>A,-:0.27,-:NOT_FOUND,- 1 174916117 rs7524912 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.054;Gene=RABGAP1L/NM_014857.4/1;CC=c.2341-10477G>A;VC=Intron;Gene=RABGAP1L/NM_001243765.1/0;CC=c.298-10477G>A;VC=Intron;Gene=RABGAP1L/NM_001243763.1/0;CC=c.112-10477G>A;VC=Intron;Gene=RABGAP1L/NM_001035230.2/0;CC=c.112-10477G>A;VC=Intron;Gene=LOC101928696/NR_121196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:132:15.11:5.72:9.39:1.00:1.00:1.00:60:73.5:0:0:63:60:20:NM_014857.4(RABGAP1L) c.2341-10477G>A,NM_014857.4(RABGAP1L) c.2341-10477G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 174926687 . G . . NT END=174927027;NT GT ./. 1 174927328 . G . . NT END=174933904;NT GT ./. 1 174927388 rs10798329 G C 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.01318,C/0.9868;Gene=RABGAP1L/NM_001243765.1/0;CC=c.390+702G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:3:0:0:19:658:74.86:6.02:68.85:1.00:1.00:1.00:60:36.4:0:0:107:42:19:NM_001243765.1(RABGAP1L) c.390+702G>C,NM_001243765.1(RABGAP1L) c.390+702G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 174934123 . G . . NT END=174938413;NT GT ./. 1 174934127 . G GT 7 rn VT=INS;SST=Single;DP=25;PC=1.000;Gene=RABGAP1L/NM_001243765.1/0;CC=c.391-4277dupT;VC=Intron;Gene=RABGAP1L/NM_001243764.1/0;CC=c.39+15dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:G,GT:25:11:3:0:22,3:730,98:0.00,7.25:0.00,1.15:0.00,6.10:0.00,0.46:0.00,0.68:0.00,0.46:60,60:10.4,8.0:0,0:0,0:114,103:28,48:21,31:-,NM_001243764.1(RABGAP1L) c.39+5_39+6insT:-,NOT_FOUND:-,NOT_FOUND 1 174938525 . G . . NT END=174945214;NT GT ./. 1 174945320 . G . . NT END=174947943;NT GT ./. 1 174945499 rs188976070 A G 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9968,G/0.003195;NP=5;PC=0.007;Gene=RABGAP1L/NM_001243765.1/0;CC=c.606+180A>G;VC=Intron;Gene=RABGAP1L/NM_001243764.1/0;CC=c.255+180A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G:4:0:0:0:2,2:44,70:0.00,6.76:0.00,0.00:0.00,6.76:0.00,0.51:0.00,0.00:0.00,0.51:60,60:22.5,40.5:0,0:0,0:96,36:54,114:25,11:-,NM_001243764.1(RABGAP1L) c.255+180A>G:-,0.0014:-,NOT_FOUND 1 174948028 . G . . NT END=174951970;NT GT ./. 1 174952043 . G . . NT END=174957777;NT GT ./. 1 174957976 . G . . NT END=174958985;NT GT ./. 1 174959108 rs41266060 G A 63 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.8612,A/0.1388;PC=0.095;Gene=RABGAP1L/NM_001243765.1/0;CC=c.1083G>A;ProtCh=p.P361=;VC=Silent;Gene=RABGAP1L/NM_001243764.1/0;CC=c.732G>A;ProtCh=p.P244=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:23:0:0:20,24:669,751:63.28,0.00:25.43,0.00:37.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,4.6:0,0:0,0:106,106:36,44:35,23:NM_001243764.1(RABGAP1L) c.732G>A (p.(=)),-:0.15,-:NOT_FOUND,- 1 174959139 . T . . NT END=174969316;NT GT ./. 1 174969271 rs1046439 C T 337 nt VT=SNV;PN=T;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.2604,T/0.7396;Gene=CACYBP/NM_001007214.1/1;CC=c.-115+446C>T;VC=Intron;Gene=CACYBP/NM_014412.2/0;CC=c.-46C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:97:88:0:0:1,96:12,2935:0.00,337.19:0.00,258.62:0.00,78.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:112.0,41.0:0,0:0,0:93,46:17,101:0,31:NM_001007214.1(CACYBP) c.-115+446C>T,NM_001007214.1(CACYBP) c.-115+446C>T:0.73,0.73:0.771684,0.771684 1 174969332 . G . . NT END=174969348;NT GT ./. 1 174969736 . G . . NT END=174973749;NT GT ./. 1 174973970 . G . . NT END=174975880;NT GT ./. 1 174975978 . G . . NT END=174976233;NT GT ./. 1 174976334 . G . . NT END=174977744;NT GT ./. 1 174977843 . G . . NT END=174979058;NT GT ./. 1 174979216 . G . . NT END=174983804;NT GT ./. 1 174983633 rs1058741 T C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8255,C/0.1745;PC=0.138;Gene=MRPS14/NM_022100.2/1;CC=c.*172A>G;VC=3UTR;Gene=MRPS14/NR_037606.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:C,T:13:13:0:0:8,5:262,149:26.26,0.00:26.26,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.4,0.0:0,0:0,0:43,32:107,119:37,30:NM_022100.2(MRPS14) c.*172A>G,-:0.17,-:NOT_FOUND,- 1 174983988 . C . . NT END=174987553;NT GT ./. 1 174984069 . C CT 10 nt VT=INS;SST=Single;DP=32;NP=1;PC=0.002;Gene=MRPS14/NM_022100.2/1;CC=c.205-83_205-82insA;VC=Intron;Gene=MRPS14/NR_037606.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T,CT:32:5:4:3:26,2,4:709,59,128:0.00,3.73,9.60:0.00,-0.10,-0.20:0.00,3.82,9.80:0.00,0.00,0.63:0.00,0.00,0.48:0.00,0.00,0.94:60,60,60:46.8,118.0,60.0:4,1,0:0,0,0:124,55,97:21,81,53:15,16,5:-,NM_022100.2(MRPS14) c.205-83_205-82insA:-,NOT_FOUND:-,NOT_FOUND 1 174984074 rs7540740 C T 104 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8928,T/0.1072;PC=0.004;Gene=MRPS14/NM_022100.2/1;CC=c.205-87G>A;VC=Intron;Gene=MRPS14/NR_037606.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:5:0:4:28:903:103.65:12.52:91.13:1.00:1.00:1.00:60:63.2:7:0:113:32:30:NM_022100.2(MRPS14) c.205-87G>A,NM_022100.2(MRPS14) c.205-87G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 174984205 rs7554767 T C 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8259,C/0.1741;Gene=MRPS14/NM_022100.2/1;CC=c.205-218A>G;VC=Intron;Gene=MRPS14/NR_037606.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:1:0:0:2,2:66,66:6.35,0.00:-0.15,0.00:6.50,0.00:0.51,0.00:0.67,0.00:0.51,0.00:60,60:33.0,0.0:0,0:0,0:97,39:53,95:13,19:NM_022100.2(MRPS14) c.205-218A>G,-:0.17,-:NOT_FOUND,- 1 174987713 . C . . NT END=174992407;NT GT ./. 1 174992545 . G . . NT END=175046554;NT GT ./. 1 175013936 rs3737935 T A 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.8343,A/0.1657 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:31:20:0:0:17,14:569,457:55.73,0.00:21.32,0.00:34.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.6,10.4:0,0:0,0:80,83:71,67:47,23:chr1 g.175013935T>A (intergenic),-:0.17,-:NOT_FOUND,- 1 175014250 rs7355181 A G 241 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.4119,G/0.5881;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G:64:45:0:0:64:2108:241.26:127.23:114.04:1.00:1.00:1.00:60:40.6:0:0:57:94:31:chr1 g.175014249A>G (intergenic),chr1 g.175014249A>G (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 1 175014557 rs6425313 T C 194 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.03055,C/0.9694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:C:55:28:0:0:55:1680:193.88:75.29:118.59:1.00:1.00:1.00:60:51.3:0:0:110:38:23:chr1 g.175014556T>C (intergenic),chr1 g.175014556T>C (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 1 175014607 rs11808101 T C 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4157,C/0.5843;PC=0.330 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:12:0:0:32:969:112.13:33.11:79.02:1.00:1.00:1.00:60:61.3:0:0:104:46:30:chr1 g.175014606T>C (intergenic),chr1 g.175014606T>C (intergenic):0.57,0.57:NOT_FOUND,NOT_FOUND 1 175030365 . GCGCGCACA G 13 idl,nt VT=DEL;SST=Single;DP=10;NP=1;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:GCGCGCACA,G:5:9:0:10:1,4:29,292:0.00,13.00:0.00,5.00:0.00,8.00:0.00,0.84:0.00,0.98:0.00,0.94:60,70:2.0,173.5:0,5:0,0:144,54:2,64:0,12:-,NM_022093.1(TNN) c.-113-u6628_-113-u6621delCGCGCACA:-,NOT_FOUND:-,NOT_FOUND 1 175030406 rs76281231 C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7145,T/0.2855 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:9:8:0:0:5,4:173,84:0.00,7.58:0.00,5.00:0.00,2.58:0.00,0.85:0.00,0.98:0.00,0.94:70,60:37.8,135.5:0,0:0,0:85,75:18,75:9,18:-,NM_022093.1(TNN) c.-113-u6588C>T:-,NOT_FOUND:-,NOT_FOUND 1 175030410 rs61827390 C G,T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7145,G/0.2855;NP=214 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:C,G,T:9:7:0:0:2,5,2:65,168,66:0.00,17.20,6.03:0.00,8.60,2.91:0.00,8.60,3.12:0.00,0.96,0.00:0.00,0.99,0.00:0.00,0.98,0.00:60,60,60:52.5,132.6,40.0:0,0,0:0,0,0:74,83,107:75,68,11:21,31,18:NM_022093.1(TNN) c.-113-u6584C>G,NM_022093.1(TNN) c.-113-u6584C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175030412 rs4433352 C G 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4071,G/0.5929 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:9:7:0:0:2,7:70,247:0.00,25.97:0.00,17.00:0.00,8.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.0,110.4:0,0:0,0:109,85:9,66:18,12:-,NM_022093.1(TNN) c.-113-u6582C>G:-,NOT_FOUND:-,NOT_FOUND 1 175046488 rs2072033 G A 251 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.4287,A/0.5713;Gene=TNN/NM_022093.1/1;CC=c.-35-32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:69:67:0:0:69:2180:250.82:225.64:25.18:1.00:1.00:1.00:60:45.7:0:0:44:104:28:NM_022093.1(TNN) c.-35-32G>A,NM_022093.1(TNN) c.-35-32G>A:0.54,0.54:NOT_FOUND,NOT_FOUND 1 175046789 rs2072032 A G 596 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=A/0.4285,G/0.5715;PC=0.008;Gene=TNN/NM_022093.1/1;CC=c.235A>G;ProtCh=p.R79G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:171:111:0:0:1,170:11,5177:0.00,596.41:0.00,301.42:0.00,294.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:90.0,36.3:0,0:0,0:83,74:44,74:0,36:NM_022093.1(TNN) c.235A>G (p.Arg79Gly),NM_022093.1(TNN) c.235A>G (p.Arg79Gly):0.54,0.54:0.594418,0.594418 1 175046964 . G . . NT END=175048468;NT GT ./. 1 175048144 rs17374584 G T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4251,T/0.5749;Gene=TNN/NM_022093.1/1;CC=c.410-325G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:109:12.73:12.73:0.00:1.00:1.00:0.00:60:30.8:0:0:65:83:22:NM_022093.1(TNN) c.410-325G>T,NM_022093.1(TNN) c.410-325G>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 175048844 . G . . NT END=175049298;NT GT ./. 1 175049103 rs74128568 A AGT 80 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=639;PC=0.001;Gene=TNN/NM_022093.1/1;CC=c.785-179_785-178insTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,AGT,D:32:22:24:1:7,24,1:184,754,34:0.00,79.68,2.28:0.00,51.44,2.30:0.00,28.24,-0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:52.6,6.9,0.0:1,0,0:0,0,0:96,53,79:33,92,72:37,19,0:-,NM_022093.1(TNN) c.785-196_785-195insGT:-,NOT_FOUND:-,NOT_FOUND 1 175049563 . G . . NT END=175052885;NT GT ./. 1 175052828 rs2072031 G A 227 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.7049,A/0.2951;Gene=TNN/NM_022093.1/1;CC=c.1049-58G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:A:62:54:0:0:62:1973:226.81:177.48:49.33:1.00:1.00:1.00:60:38.9:0:0:49:101:31:NM_022093.1(TNN) c.1049-58G>A,NM_022093.1(TNN) c.1049-58G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 1 175053072 . G . . NT END=175054540;NT GT ./. 1 175053101 rs2072030 A T 266 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.4557,T/0.5443;Gene=TNN/NM_022093.1/1;CC=c.1234+30A>T;VC=Intron;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:72:28:0:0:72:2321:266.42:62.10:204.32:1.00:1.00:1.00:60:38.4:0:0:111:37:25:NM_022093.1(TNN) c.1234+30A>T,NM_022093.1(TNN) c.1234+30A>T:0.52,0.52:0.565278,0.565278 1 175054418 rs1573759 A G 79 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4435,G/0.5565;Gene=TNN/NM_022093.1/1;CC=c.1235-123A>G;VC=Intron;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:26:26:0:0:26:674:79.31:79.31:0.00:1.00:1.00:0.00:60:47.1:0:0:54:97:35:NM_022093.1(TNN) c.1235-123A>G,NM_022093.1(TNN) c.1235-123A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 175054548 rs1573758 C T 299 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.4589,T/0.5411;PC=0.394;Gene=TNN/NM_022093.1/1;CC=c.1242C>T;ProtCh=p.H414=;VC=Silent;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:85:60:0:0:1,1,83:12,9,2609:0.18,0.09,299.36:0.00,0.00,150.47:0.18,0.09,148.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.0,211.0,37.9:0,0,0:0,0,0:98,84,68:52,65,83:0,0,29:NM_022093.1(TNN) c.1242C>T (p.(=)),NM_022093.1(TNN) c.1242C>T (p.(=)):0.52,0.52:0.56274,0.56274 1 175054631 . G . . NT END=175063125;NT GT ./. 1 175063390 . G . . NT END=175066552;NT GT ./. 1 175066820 . G . . NT END=175067467;NT GT ./. 1 175067732 . G . . NT END=175086074;NT GT ./. 1 175068011 rs744008 T A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.471,A/0.529;Gene=TNN/NM_022093.1/1;CC=c.2119+280T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A,T:9:0:0:0:8,1:198,10:22.26,0.00:0.00,0.00:22.26,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.8,123.0:0,0:0,0:121,88:28,62:11,0:NM_022093.1(TNN) c.2119+280T>A,NM_022093.1(TNN) c.2119+280T>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 175086342 . G . . NT END=175087696;NT GT ./. 1 175086461 rs6690229 A G 129 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.352,G/0.648;Gene=TNN/NM_022093.1/1;CC=c.2386+120A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:79:2:0:0:37,41,1:1107,1330,10:0.00,129.15,-0.08:0.00,2.83,-0.00:0.00,126.31,-0.08:0.00,1.00,0.00:0.00,0.81,0.00:0.00,1.00,0.00:60,60,30:9.1,39.3,242.0:0,0,0:0,0,0:100,102,72:50,48,79:27,25,0:-,NM_022093.1(TNN) c.2386+120A>G:-,0.62:-,NOT_FOUND 1 175087884 rs2269654 C T 392 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=302;DB;DBA=NA;PAF=C/0.8271,T/0.1729;Gene=TNN/NM_022093.1/1;CC=c.2574C>T;ProtCh=p.G858=;VC=Silent;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:302:215:0:0:2,166,1,133:20,5658,11,4182:-0.35,0.00,-0.17,392.32:-0.17,0.00,-0.12,190.19:-0.18,0.00,-0.05,202.13:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:78.5,6.2,137.0,74.0:0,0,0,0:0,0,0,0:85,64,62,65:65,81,78,84:28,37,0,29:-,NM_022093.1(TNN) c.2574C>T (p.(=)):-,0.15:-,0.09411 1 175087885 rs6694078 A G 420 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=301;DB;DBA=NA;PAF=A/0.8271,G/0.1729;PC=0.070;Gene=TNN/NM_022093.1/1;CC=c.2575A>G;ProtCh=p.M859V;VC=Missense;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:301:214:0:0:167,134:5456,4460:0.00,420.02:0.00,215.22:0.00,204.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,73.1:0,0:0,0:64,73:81,74:37,33:-,NM_022093.1(TNN) c.2575A>G (p.Met859Val):-,0.15:-,0.098954 1 175087961 . G . . NT END=175092535;NT GT ./. 1 175092674 rs2285215 C T 895 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=244;DB;DBA=NA;PAF=C/0.4018,T/0.5982;PC=0.002;Gene=TNN/NM_022093.1/1;CC=c.2789C>T;ProtCh=p.P930L;VC=Missense;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:244:180:0:0:1,2,241:5,12,7824:0.00,0.05,894.94:0.00,0.06,518.36:0.00,-0.00,376.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:67.0,92.5,54.2:0,0,0:0,0,0:105,86,64:46,63,81:0,15,37:NM_022093.1(TNN) c.2789C>T (p.Pro930Leu),NM_022093.1(TNN) c.2789C>T (p.Pro930Leu):0.61,0.61:0.62302,0.62302 1 175092707 rs10798333 C T 453 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=273;DB;DBA=NA;PAF=C/0.6997,T/0.3003;Gene=TNN/NM_022093.1/1;CC=c.2822C>T;ProtCh=p.T941M;VC=Missense;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:273:204:0:0:128,145:3973,4662:0.00,453.42:0.00,263.63:0.00,189.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.0,65.5:0,0:0,0:70,55:80,94:38,31:-,NM_022093.1(TNN) c.2822C>T (p.Thr941Met):-,0.33:-,0.412809 1 175092800 . G . . NT END=175096090;NT GT ./. 1 175092840 rs2072041 T C 643 nt VT=SNV;PN=A;NN=C;SST=Single;DP=177;DB;DBA=NA;PAF=T/0.4016,C/0.5984;Gene=TNN/NM_022093.1/1;CC=c.2914+41T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:177:74:0:0:177:5588:642.85:164.25:478.61:1.00:1.00:1.00:60:44.6:0:0:111:38:23:NM_022093.1(TNN) c.2914+41T>C,NM_022093.1(TNN) c.2914+41T>C:0.61,0.61:0.622482,0.622482 1 175092992 rs55884210 GGAGT G 59 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=GGAGT/0.1973,G/0.8027;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GGAGT/0.1973,G/0.8027;NP=398;Gene=TNN/NM_022093.1/1;CC=c.2914+199_2914+202delAGTG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:GGAGT,G:27:0:0:20:8,19:216,566:0.00,58.55:0.00,0.00:0.00,58.55:0.00,1.00:0.00,0.00:0.00,1.00:60,60:24.5,17.4:0,0:0,0:145,90:5,61:1,28:-,NM_022093.1(TNN) c.2914+194_2914+197delGAGT:-,NOT_FOUND:-,NOT_FOUND 1 175095936 rs7515770 C T 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.722,T/0.278;Gene=TNN/NM_022093.1/1;CC=c.2915-155C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:20:0:0:9,11:299,331:0.00,32.34:0.00,32.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:36.4,33.5:0,0:0,0:35,56:116,94:16,21:-,NM_022093.1(TNN) c.2915-155C>T:-,0.31:-,NOT_FOUND 1 175096222 . G . . NT END=175097167;NT GT ./. 1 175096333 rs2072040 A G 79 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=TNN/NM_022093.1/1;CC=c.3045+112A>G;VC=Intron;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:4:0:0:17,25:527,790:0.00,78.59:0.00,5.13:0.00,73.46:0.00,1.00:0.00,0.97:0.00,1.00:60,60:10.9,40.7:0,0:0,0:117,126:33,25:16,21:-,NM_022093.1(TNN) c.3045+112A>G:-,0.5:-,NOT_FOUND 1 175096389 rs10798334 C T 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5168,T/0.4832;Gene=TNN/NM_022093.1/1;CC=c.3045+168C>T;VC=Intron;DM=TNN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,T:16:0:0:0:5,11:161,353:0.00,36.23:0.00,0.00:0.00,36.23:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.8,52.5:0,0:0,0:119,77:32,74:14,29:-,NM_022093.1(TNN) c.3045+168C>T:-,0.5:-,NOT_FOUND 1 175097301 . G . . NT END=175097730;NT GT ./. 1 175097331 rs10912891 G A 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.5925,A/0.4075;Gene=TNN/NM_022093.1/1;CC=c.3178+31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:19:0:0:23,27:740,871:69.95,0.00:12.22,0.00:57.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.9,31.1:0,0:0,0:105,103:41,46:27,27:NM_022093.1(TNN) c.3178+31G>A,-:0.47,-:0.524527,- 1 175097349 rs7547567 C T 152 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.3333,T/0.6667;Gene=TNN/NM_022093.1/1;CC=c.3178+49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:T:42:10:0:0:42:1324:152.34:23.16:129.18:1.00:1.00:1.00:60:55.4:0:0:111:36:28:NM_022093.1(TNN) c.3178+49C>T,NM_022093.1(TNN) c.3178+49C>T:0.67,0.67:0.694679,0.694679 1 175097883 . G . . NT END=175104980;NT GT ./. 1 175097991 rs10798335 C T 67 nt VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.5152,T/0.4848;Gene=TNN/NM_022093.1/1;CC=c.3330+109C>T;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:49:4:0:0:1,25,23:9,752,707:-0.07,0.00,67.22:-0.01,0.00,3.19:-0.06,0.00,64.03:0.00,0.00,1.00:0.00,0.00,0.92:0.00,0.00,1.00:60,60,60:67.0,5.6,34.0:0,0,0:0,0,0:129,113,112:22,38,39:0,30,13:-,NM_022093.1(TNN) c.3330+109C>T:-,0.53:-,NOT_FOUND 1 175104719 rs4651322 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.403,C/0.597;Gene=TNN/NM_022093.1/1;CC=c.3331-262T>C;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:162:18.58:18.58:0.00:1.00:1.00:0.00:60:57.0:0:0:23:128:18:NM_022093.1(TNN) c.3331-262T>C,NM_022093.1(TNN) c.3331-262T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 175104796 rs4651324 G T 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1597,T/0.8403;Gene=TNN/NM_022093.1/1;CC=c.3331-185G>T;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:307:35.44:35.44:0.00:1.00:1.00:0.00:60:57.2:0:0:24:126:20:NM_022093.1(TNN) c.3331-185G>T,NM_022093.1(TNN) c.3331-185G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 175105078 . G . . NT END=175105956;NT GT ./. 1 175105880 rs2072037 G A 116 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.3299,A/0.6701;PC=0.001;Gene=TNN/NM_022093.1/1;CC=c.3428-77G>A;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:29:0:0:31:1013:116.08:101.98:14.11:1.00:1.00:1.00:60:67.2:0:0:45:105:16:NM_022093.1(TNN) c.3428-77G>A,NM_022093.1(TNN) c.3428-77G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 175105942 rs4650703 G A 231 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.01218,A/0.9878;Gene=TNN/NM_022093.1/1;CC=c.3428-15G>A;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:A:61:56:0:0:61:2020:231.05:180.65:50.40:1.00:1.00:1.00:60:53.7:0:0:47:94:28:NM_022093.1(TNN) c.3428-15G>A,NM_022093.1(TNN) c.3428-15G>A:0.98,0.98:0.973397,0.973397 1 175106125 . G . . NT END=175113522;NT GT ./. 1 175106529 rs61829477 A T 35 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=5;PC=0.661;Gene=TNN/NM_022093.1/1;CC=c.3595+405A>T;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:5:0:0:9:306:34.89:13.12:21.77:1.00:1.00:1.00:60:112.3:9:0:87:54:16:NM_022093.1(TNN) c.3595+405A>T,NM_022093.1(TNN) c.3595+405A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175106530 rs61829478 T G 34 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.357,G/0.643;PC=0.844;Gene=TNN/NM_022093.1/1;CC=c.3595+406T>G;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:5:0:0:9:300:34.29:13.87:20.42:1.00:1.00:1.00:60:112.7:9:0:100:51:12:NM_022093.1(TNN) c.3595+406T>G,NM_022093.1(TNN) c.3595+406T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175106532 rs199935367 A G 33 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3452,G/0.6548;PC=0.880;Gene=TNN/NM_022093.1/1;CC=c.3595+408A>G;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:5:0:0:9:286:32.86:11.84:21.02:1.00:1.00:1.00:60:112.7:9:0:102:49:12:NM_022093.1(TNN) c.3595+408A>G,NM_022093.1(TNN) c.3595+408A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175106533 rs10638677 T TGTGTGA 17 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3804,TGA/0.6196,TGTGTGTGTGA/.,TTG/.;PC=0.849;Gene=TNN/NM_022093.1/1;CC=c.3595+409_3595+410insGTGTGA;VC=Intron;DM=TNN/Fibrinogen_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TGTGTGA:5:5:9:0:5:290:17.31:8.85:8.45:0.96:0.98:0.99:60:208.8:4:0:77:73:25:NM_022093.1(TNN) c.3595+409_3595+410insGTGTGA,NM_022093.1(TNN) c.3595+409_3595+410insGTGTGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175106616 rs10912894 T C 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7149,C/0.2851;PC=0.026;Gene=TNN/NM_022093.1/1;CC=c.3595+492T>C;VC=Intron;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:6:0:0:0:4,2:120,62:12.25,0.00:0.00,0.00:12.25,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:87.8,64.0:0,0:0,0:89,72:61,79:52,67:NM_022093.1(TNN) c.3595+492T>C,-:0.29,-:NOT_FOUND,- 1 175113578 rs10912897 T C 435 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=T/0.01398,C/0.986;PC=0.071;Gene=TNN/NM_022093.1/1;CC=c.3651T>C;ProtCh=p.N1217=;VC=Silent;DM=TNN/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:119:94:0:0:119:3784:434.79:272.11:162.67:1.00:1.00:1.00:60:37.0:0:0:65:82:44:NM_022093.1(TNN) c.3651T>C (p.(=)),NM_022093.1(TNN) c.3651T>C (p.(=)):0.98,0.98:0.971321,0.971321 1 175113687 . G . . NT END=175116066;NT GT ./. 1 175116046 rs11450833 C CT 69 idl,rn VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.5333,CT/0.4667,CTT/.,CTTT/.,CTTTT/.;NP=1;NP=2;NP=761;Gene=TNN/NM_022093.1/1;CC=c.3760-6dupT;VC=Intron;DM=TNN/Fibrinogen_C;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT,D:66:63:31:5:38,1,24,3:1209,11,976,164:0.00,-0.06,68.53,6.47:0.00,-0.17,43.55,0.82:0.00,0.11,24.98,5.65:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:22.4,38.0,74.1,24.0:0,0,7,2:0,0,0,0:92,27,51,76:49,122,87,57:32,0,30,42:-,NM_022093.1(TNN) c.3760-21_3760-20insT:-,NOT_FOUND:-,NOT_FOUND 1 175116208 . T . . NT END=175129849;NT GT ./. 1 175116252 rs4651335 C G 337 nt VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.149,G/0.851;PC=0.051;Gene=TNN/NM_022093.1/1;CC=c.*45C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:90:42:0:0:90:2943:337.14:100.65:236.49:1.00:1.00:1.00:60:40.9:0:0:109:36:25:NM_022093.1(TNN) c.*45C>G,NM_022093.1(TNN) c.*45C>G:0.87,0.87:0.887898,0.887898 1 175129924 . C CCTT 71 idl,rn VT=INS;SST=Single;DP=89;NP=194;PC=0.988;Gene=KIAA0040/NM_001162895.1/0;CC=c.225_226insAAG;ProtCh=p.K75_D76insK;VC=InFrameIns;Gene=KIAA0040/NM_014656.2/0;CC=c.225_226insAAG;ProtCh=p.K75_D76insK;VC=InFrameIns;Gene=KIAA0040/NM_001162893.1/1;CC=c.225_226insAAG;ProtCh=p.K75_D76insK;VC=InFrameIns;Gene=KIAA0040/NM_001162894.1/0;CC=c.225_226insAAG;ProtCh=p.K75_D76insK;VC=InFrameIns;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCTT,D:88:64:27:20:42,27,19:1342,790,642:0.00,71.25,53.45:0.00,45.77,40.15:0.00,25.48,13.29:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:22.2,5.5,39.6:0,0,1:0,0,0:117,28,70:30,123,76:14,20,14:-,NM_001162893.1(KIAA0040) c.223_225dupAAG (p.Lys75dup):-,NOT_FOUND:-,NOT_FOUND 1 175129955 rs3208835 G T 98 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=10;NP=6;PC=1.000;Gene=KIAA0040/NM_001162895.1/0;CC=c.195C>A;ProtCh=p.N65K;VC=Missense;Gene=KIAA0040/NM_014656.2/0;CC=c.195C>A;ProtCh=p.N65K;VC=Missense;Gene=KIAA0040/NM_001162893.1/1;CC=c.195C>A;ProtCh=p.N65K;VC=Missense;Gene=KIAA0040/NM_001162894.1/0;CC=c.195C>A;ProtCh=p.N65K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:78:47:0:0:5,39,34:166,1287,1036:11.90,0.00,97.85:0.81,0.00,48.59:11.09,0.00,49.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:54.6,3.9,35.5:0,0,0:0,0,0:142,56,79:8,92,69:7,22,32:-,NM_001162893.1(KIAA0040) c.195C>A (p.Asn65Lys):-,NOT_FOUND:-,NOT_FOUND 1 175130150 . G . . NT END=175292492;NT GT ./. 1 175130204 rs1057239 G A 79 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.6853,A/0.3147;PC=0.921;Gene=KIAA0040/NM_001162895.1/0;CC=c.-55C>T;VC=5UTR;Gene=KIAA0040/NM_014656.2/0;CC=c.-55C>T;VC=5UTR;Gene=KIAA0040/NM_001162893.1/1;CC=c.-55C>T;VC=5UTR;Gene=KIAA0040/NM_001162894.1/0;CC=c.-55C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:20:0:0:24,24:822,764:79.20,0.00:14.39,0.00:64.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,12.6:0,0:0,0:104,91:41,46:29,18:NM_001162893.1(KIAA0040) c.-55C>T,-:0.33,-:NOT_FOUND,- 1 175130276 rs1135289 G A 81 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.01577,A/0.9842;Gene=KIAA0040/NM_001162895.1/0;CC=c.-127C>T;VC=5UTR;Gene=KIAA0040/NM_014656.2/0;CC=c.-127C>T;VC=5UTR;Gene=KIAA0040/NM_001162893.1/1;CC=c.-127C>T;VC=5UTR;Gene=KIAA0040/NM_001162894.1/0;CC=c.-127C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:1:0:0:24:701:81.46:1.79:79.67:1.00:1.00:1.00:60:43.4:0:0:117:34:23:NM_001162893.1(KIAA0040) c.-127C>T,NM_001162893.1(KIAA0040) c.-127C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 175189483 rs58834562 T C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8163,C/0.1837 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:6:5:0:0:5,1:155,33:16.69,0.00:7.13,0.00:9.56,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:54.6,0.0:0,0:0,0:87,94:46,1:12,0:chr1 g.175189482T>C (intergenic),-:0.19,-:NOT_FOUND,- 1 175284948 rs397801686 ATG A 14 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=207;PC=0.020;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:ATG,A:5:6:0:5:1,4:33,165:0.00,13.83:0.00,8.76:0.00,5.06:0.00,0.93:0.00,0.93:0.00,0.93:60,60:34.0,24.8:0,1:0,0:74,25:43,58:0,10:-,chr1 g.175284949_175284950delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 175292613 . C . . NT END=175293491;NT GT ./. 1 175293424 rs2213635 T C 252 nt VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.2338,C/0.7662;Gene=TNR/NM_003285.2/1;CC=c.3957+68A>G;VC=Intron;DM=TNR/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:64:0:0:67:2197:251.53:215.94:35.59:1.00:1.00:1.00:60:39.5:0:0:42:109:25:NM_003285.2(TNR) c.3957+68A>G,NM_003285.2(TNR) c.3957+68A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 175293656 . C . . NT END=175299209;NT GT ./. 1 175299301 rs2027867 T C 433 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.234,C/0.766;PC=1.000;Gene=TNR/NM_003285.2/1;CC=c.3702A>G;ProtCh=p.Q1234=;VC=Silent;DM=TNR/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:116:83:0:0:116:3774:432.64:224.17:208.47:1.00:1.00:1.00:60:39.3:0:0:43:99:25:NM_003285.2(TNR) c.3702A>G (p.(=)),NM_003285.2(TNR) c.3702A>G (p.(=)):0.79,0.79:0.751038,0.751038 1 175299372 . C . . NT END=175304846;NT GT ./. 1 175304944 . C . . NT END=175306663;NT GT ./. 1 175306536 rs2269587 A G 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.5467,G/0.4533;Gene=TNR/NM_003285.2/1;CC=c.3534+128T>C;VC=Intron;DM=TNR/Fibrinogen_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:25:0:0:14,12:419,406:0.00,38.54:0.00,35.12:0.00,3.42:0.00,1.00:0.00,1.00:0.00,0.86:60,60:47.5,37.1:0,0:0,0:54,50:96,100:23,12:-,NM_003285.2(TNR) c.3534+128T>C:-,0.47:-,NOT_FOUND 1 175306816 . C . . NT END=175323526;NT GT ./. 1 175323446 rs2301432 A G 212 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.2518,G/0.7482;PC=0.011;Gene=TNR/NM_003285.2/1;CC=c.3382+81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:55:0:0:58:1839:211.50:186.70:24.80:1.00:1.00:1.00:60:39.5:0:0:55:95:33:NM_003285.2(TNR) c.3382+81T>C,NM_003285.2(TNR) c.3382+81T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 175323660 . C . . NT END=175324638;NT GT ./. 1 175324518 rs55715761 GCA G 128 nt VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=2812;PC=0.003;Gene=TNR/NM_003285.2/1;CC=c.3249+119_3249+120delTG;VC=Intron;DM=TNR/fn3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:GCA,G:37:34:0:35:2,35:61,1149:0.00,128.22:0.00,109.96:0.00,18.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,5.4:0,0:0,0:145,40:1,110:3,22:NM_003285.2(TNR) c.3249+119_3249+120delTG,NM_003285.2(TNR) c.3249+119_3249+120delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175324521 rs55973835 A T 131 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.3217,T/0.6783;PC=0.005;Gene=TNR/NM_003285.2/1;CC=c.3249+118T>A;VC=Intron;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:33:0:0:36:1137:130.86:111.93:18.93:1.00:1.00:1.00:60:6.3:35:0:38:112:21:NM_003285.2(TNR) c.3249+118T>A,NM_003285.2(TNR) c.3249+118T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175324651 rs2228359 A G 424 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=A/0.3343,G/0.6657;PC=1.000;Gene=TNR/NM_003285.2/1;CC=c.3237T>C;ProtCh=p.D1079=;VC=Silent;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:122:94:0:0:122:3664:423.77:252.13:171.64:1.00:1.00:1.00:60:49.1:0:0:59:88:34:NM_003285.2(TNR) c.3237T>C (p.(=)),NM_003285.2(TNR) c.3237T>C (p.(=)):0.69,0.69:0.635476,0.635476 1 175324711 rs61731115 G A 234 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.8748,A/0.1252,T/.;PC=0.993;Gene=TNR/NM_003285.2/1;CC=c.3177C>T;ProtCh=p.I1059=;VC=Silent;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:132:91:0:0:74,58:2382,1916:234.17,0.00:111.60,0.00:122.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.4,28.9:0,0:0,0:69,67:76,82:41,36:NM_003285.2(TNR) c.3177C>T (p.(=)),-:0.11,-:0.106259,- 1 175324770 . C . . NT END=175325454;NT GT ./. 1 175325205 rs723640 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9107,T/0.08926;Gene=TNR/NM_003285.2/1;CC=c.3118+250G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:10:9:0:0:7,3:174,85:0.00,7.28:0.00,3.83:0.00,3.45:0.00,0.62:0.00,0.94:0.00,0.53:60,60:32.6,61.7:0,0:0,0:47,88:103,61:24,18:-,NM_003285.2(TNR) c.3118+250G>A:-,0.08:-,NOT_FOUND 1 175325599 . C . . NT END=175328747;NT GT ./. 1 175328438 rs2285145 C G 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7071,G/0.2929;Gene=TNR/NM_003285.2/1;CC=c.2974+310G>C;VC=Intron;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:296:33.89:31.85:2.04:1.00:1.00:1.00:60:45.8:0:0:24:126:19:NM_003285.2(TNR) c.2974+310G>C,NM_003285.2(TNR) c.2974+310G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 1 175328868 . C . . NT END=175331798;NT GT ./. 1 175329083 rs2239820 A C 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=TNR/NM_003285.2/1;CC=c.2855-216T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:C:9:0:0:0:9:204:24.36:0.00:24.36:1.00:0.00:1.00:60:42.9:0:0:94:57:41:NM_003285.2(TNR) c.2855-216T>G,NM_003285.2(TNR) c.2855-216T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 175331617 rs79247495 C A 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9093,A/0.09065;Gene=TNR/NM_003285.2/1;CC=c.2854+182G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:19:0:0:9,10:288,269:27.42,0.00:27.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.8,15.8:0,0:0,0:37,49:113,101:36,33:NM_003285.2(TNR) c.2854+182G>T,-:0.08,-:NOT_FOUND,- 1 175331946 . C . . NT END=175332843;NT GT ./. 1 175332181 rs12406012 G C 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8704,C/0.1296;PC=0.037;Gene=TNR/NM_003285.2/1;CC=c.2708-236C>G;VC=Intron;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,G:11:0:0:0:4,7:125,203:11.28,0.00:0.00,0.00:11.28,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:37.2,30.3:0,0:0,0:78,70:72,80:31,6:NM_003285.2(TNR) c.2708-236C>G,-:0.15,-:NOT_FOUND,- 1 175332964 . C . . NT END=175334145;NT GT ./. 1 175334416 . C . . NT END=175335010;NT GT ./. 1 175335234 rs1385541 C T 142 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.8339,T/0.1661;Gene=TNR/NM_003285.2/1;CC=c.2094G>A;ProtCh=p.S698=;VC=Silent;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:89:44:0:0:1,43,45:21,1252,1468:0.50,0.00,141.92:-0.05,0.00,61.29:0.55,0.00,80.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:200.0,6.3,42.4:0,0,0:0,0,0:53,89,89:97,62,56:0,32,36:-,NM_003285.2(TNR) c.2094G>A (p.(=)):-,0.18:-,0.207058 1 175335275 . C . . NT END=175336343;NT GT ./. 1 175335412 rs1385540 A C 54 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2061,C/0.7939;PC=0.018;Gene=TNR/NM_003285.2/1;CC=c.2054-138T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:1:0:0:15:466:53.69:0.98:52.71:1.00:1.00:1.00:60:46.6:0:0:125:26:11:NM_003285.2(TNR) c.2054-138T>G,NM_003285.2(TNR) c.2054-138T>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 175335551 rs10489317 A G 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8333,G/0.1667;PC=0.001;Gene=TNR/NM_003285.2/1;CC=c.2054-277T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:0:0:0:1,3:33,69:0.00,7.29:0.00,0.00:0.00,7.29:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,40.7:0,0:0,0:113,59:35,92:0,15:-,NM_003285.2(TNR) c.2054-277T>C:-,0.18:-,NOT_FOUND 1 175336292 rs1872440 C A 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.8738,A/0.1262;Gene=TNR/NM_003285.2/1;CC=c.2053+52G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:38:32:0:0:17,21:570,686:53.76,0.00:37.67,0.00:16.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.2,3.0:0,0:0,0:28,43:123,104:16,28:NM_003285.2(TNR) c.2053+52G>T,-:0.14,-:0.182621,- 1 175336305 rs1872439 G C 61 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.8734,C/0.1266;Gene=TNR/NM_003285.2/1;CC=c.2053+39C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:45:36:0:0:20,25:653,824:61.39,0.00:40.19,0.00:21.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.2,4.0:0,0:0,0:38,39:112,107:20,28:NM_003285.2(TNR) c.2053+39C>G,-:0.15,-:0.177226,- 1 175336434 . C . . NT END=175348687;NT GT ./. 1 175336530 rs6697701 T C 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.3143,C/0.6857;Gene=TNR/NM_003285.2/1;CC=c.1964-97A>G;VC=Intron;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:2:0:0:18:575:66.08:3.88:62.20:1.00:1.00:1.00:60:37.8:0:0:110:40:26:NM_003285.2(TNR) c.1964-97A>G,NM_003285.2(TNR) c.1964-97A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 175336619 rs6697801 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3458,A/.,C/0.6542;PC=0.010;Gene=TNR/NM_003285.2/1;CC=c.1964-186A>G;VC=Intron;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:0:0:0:7:190:22.24:0.00:22.24:1.00:0.00:1.00:60:52.4:0:0:60:91:45:NM_003285.2(TNR) c.1964-186A>G,NM_003285.2(TNR) c.1964-186A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 175348874 . C . . NT END=175355167;NT GT ./. 1 175355391 rs859437 A G 432 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=A/0.1671,G/0.8329;PC=0.001;Gene=TNR/NM_003285.2/1;CC=c.1554T>C;ProtCh=p.T518=;VC=Silent;DM=TNR/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:127:77:0:0:1,1,125:36,6,3752:0.00,0.02,431.74:0.00,-0.00,180.52:0.00,0.03,251.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:0.0,83.0,46.0:0,0,0:0,0,0:45,38,70:105,113,77:0,0,39:NM_003285.2(TNR) c.1554T>C (p.(=)),NM_003285.2(TNR) c.1554T>C (p.(=)):0.82,0.82:0.798401,0.798401 1 175355438 . C . . NT END=175360423;NT GT ./. 1 175360575 . C . . NT END=175362915;NT GT ./. 1 175363032 . C . . NT END=175365679;NT GT ./. 1 175365944 . C . . NT END=175372275;NT GT ./. 1 175372753 . C . . NT END=175375351;NT GT ./. 1 175375851 . C . . NT END=175914288;NT GT ./. 1 175376029 rs112015044 G A 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.903,A/0.09704;NP=98;Gene=TNR/NM_003285.2/1;CC=c.-63-116C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:27:0:0:0:13,13,1:395,415,10:37.85,0.00,0.08:0.00,0.00,0.00:37.85,0.00,0.08:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.6,9.2,28.0:0,0,0:0,0,0:106,88,75:45,63,74:25,40,0:NM_003285.2(TNR) c.-63-116C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 175678444 rs74129318 T C 6 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=16;NP=2;PC=0.103;Gene=TNR/NM_003285.2/1;CC=c.-165+33918A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:C,T,D:5:5:0:1:2,2,1:66,67,34:6.31,0.00,2.98:6.54,0.00,1.49:-0.22,0.00,1.49:0.46,0.00,0.00:0.46,0.00,0.00:0.80,0.00,0.00:60,60,60:73.0,0.0,0.0:0,0,0:0,0,0:9,68,63:141,57,49:0,39,0:NM_003285.2(TNR) c.-165+33918A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 175678479 rs12039679 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9107,A/0.08926;NP=1;NP=53;Gene=TNR/NM_003285.2/1;CC=c.-165+33883C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:4:4:0:0:2,2:70,71:6.75,0.00:7.05,0.00:-0.30,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:73.0,0.0:0,0:0,0:44,80:106,30:0,16:NM_003285.2(TNR) c.-165+33883C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 175742436 rs72727632 G T 10 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.49,T/0.51;PC=0.496 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:1:0:0:4:86:10.40:1.03:9.37:1.00:1.00:1.00:60:61.8:0:0:105:46:11:chr1 g.175742435G>T (intergenic),chr1 g.175742435G>T (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 1 175914307 . C . . NT END=175916330;NT GT ./. 1 175916267 rs6674353 T C 77 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.07987,C/0.9201;Gene=RFWD2/NM_001001740.3/0;CC=c.2106+64A>G;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.1458+64A>G;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.2178+64A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C,T:23:21:0:0:22,1:685,11:77.36,0.00:58.77,0.00:18.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.9,0.0:0,0:0,0:38,49:109,102:19,0:NM_022457.5(RFWD2) c.2178+64A>G,NM_022457.5(RFWD2) c.2178+64A>G:0.93,0.93:0.926194,0.926194 1 175916376 . C . . NT END=175956078;NT GT ./. 1 175956240 . C . . NT END=175957423;NT GT ./. 1 175957549 . C . . NT END=175958497;NT GT ./. 1 175958616 . C . . NT END=175996707;NT GT ./. 1 175996825 . C . . NT END=176012321;NT GT ./. 1 176012287 . A G 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;PC=0.109;Gene=RFWD2/NM_001001740.3/0;CC=c.1540+35T>C;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.892+35T>C;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.1612+35T>C;VC=Intron;DM=RFWD2/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:19:0:0:8,14:266,447:0.00,45.11:0.00,30.40:0.00,14.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.2,45.0:0,0:0,0:46,39:103,104:35,30:-,NM_022457.5(RFWD2) c.1612+35T>C:-,NOT_FOUND:-,NOT_FOUND 1 176012404 . C . . NT END=176012845;NT GT ./. 1 176012807 rs4233165 G A 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.0621,A/0.9379;PC=0.006;Gene=RFWD2/NM_001001740.3/0;CC=c.1458+39C>T;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.810+39C>T;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.1530+39C>T;VC=Intron;DM=RFWD2/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:11:0:0:14:463:52.98:37.57:15.41:1.00:1.00:1.00:60:38.0:0:0:67:83:35:NM_022457.5(RFWD2) c.1530+39C>T,NM_022457.5(RFWD2) c.1530+39C>T:0.95,0.95:0.931329,0.931329 1 176012955 . C . . NT END=176015316;NT GT ./. 1 176015461 . C . . NT END=176050287;NT GT ./. 1 176050138 rs2502828 G A 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.0619,A/0.9381;Gene=RFWD2/NM_001001740.3/0;CC=c.1205+150C>T;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.557+150C>T;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.1277+150C>T;VC=Intron;DM=RFWD2/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:288:33.09:33.09:0.00:1.00:1.00:0.00:60:45.3:0:0:54:96:22:NM_022457.5(RFWD2) c.1277+150C>T,NM_022457.5(RFWD2) c.1277+150C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 176050424 . C . . NT END=176054911;NT GT ./. 1 176050430 rs56720201 GA G 16 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=22;PC=0.225;Gene=RFWD2/NM_001001740.3/0;CC=c.1070-8delT;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.422-8delT;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.1142-8delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:A,GA,I,G:36:26:3:12:2,25,2,7:43,817,97,262:2.28,0.00,4.11,15.57:-0.34,0.00,0.90,4.63:2.63,0.00,3.20,10.95:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.97:60,60,60,70:64.0,15.7,39.5,32.6:1,0,1,2:0,0,0,0:51,120,78,38:99,30,55,53:40,23,30,26:-,NM_022457.5(RFWD2) c.1142-8delT:-,NOT_FOUND:-,NOT_FOUND 1 176055027 . C . . NT END=176085759;NT GT ./. 1 176085818 . C . . NT END=176104145;NT GT ./. 1 176104223 . C . . NT END=176105623;NT GT ./. 1 176105684 . C . . NT END=176118141;NT GT ./. 1 176118211 . C . . NT END=176132004;NT GT ./. 1 176132125 . C . . NT END=176132950;NT GT ./. 1 176132292 rs704828 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.0621,T/0.9379;Gene=RFWD2/NM_001001740.3/0;CC=c.631-168G>A;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.42+12754G>A;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.643-168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:366:42.23:0.00:42.23:1.00:0.00:1.00:60:52.8:0:0:97:52:31:NM_022457.5(RFWD2) c.643-168G>A,NM_022457.5(RFWD2) c.643-168G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 176133028 . C . . NT END=176145045;NT GT ./. 1 176145144 . C . . NT END=176153768;NT GT ./. 1 176145277 rs471534 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2843,C/0.7157;PC=0.833;Gene=RFWD2/NM_001001740.3/0;CC=c.468-134A>G;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.-56-134A>G;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.468-134A>G;VC=Intron;DM=RFWD2/zf-C3HC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:37.5:0:0:127:23:12:NM_022457.5(RFWD2) c.468-134A>G,NM_022457.5(RFWD2) c.468-134A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 176153658 rs791744 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2851,C/0.7149;PC=0.012;Gene=RFWD2/NM_001001740.3/0;CC=c.467+111A>G;VC=Intron;Gene=RFWD2/NM_001286644.1/0;CC=c.-57+111A>G;VC=Intron;Gene=RFWD2/NM_022457.6/1;CC=c.467+111A>G;VC=Intron;DM=RFWD2/zf-C3HC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:463:52.98:52.98:0.00:1.00:1.00:0.00:60:36.4:0:0:63:87:46:NM_022457.5(RFWD2) c.467+111A>G,NM_022457.5(RFWD2) c.467+111A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 176153829 . C . . NT END=176175707;NT GT ./. 1 176176115 . C . . NT END=176525458;NT GT ./. 1 176340074 rs59525886 TCACA T 12 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=49;PC=0.058;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TCACA,T:6:5:0:5:1,5:34,114:0.00,12.33:0.00,6.72:0.00,5.62:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,39.6:0,0:0,0:77,45:36,106:0,36:-,chr1 g.176340075_176340078delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 176526378 . G . . NT END=176563659;NT GT ./. 1 176560221 . GCA G 7 rn VT=DEL;SST=Single;DP=5;NP=7;PC=0.002;Gene=PAPPA2/NM_021936.2/0;CC=c.920-3400_920-3399delCA;VC=Intron;Gene=PAPPA2/NM_020318.2/1;CC=c.920-3400_920-3399delCA;VC=Intron;DM=PAPPA2/Laminin_G_3;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:GCA,I,G:5:5:1:2:2,1,2:69,15,68:0.00,1.09,6.51:0.00,0.50,6.63:0.00,0.59,-0.11:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.70:60,15,60:0.0,0.0,21.5:0,0,0:0,0,0:68,14,71:68,48,78:7,0,5:-,NM_020318.2(PAPPA2) c.920-3438_920-3437delCA:-,NOT_FOUND:-,NOT_FOUND 1 176564732 . G . . NT END=176640105;NT GT ./. 1 176640252 . G . . NT END=176659272;NT GT ./. 1 176660047 rs71779405 TA T 107 idl,rn VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=TA/0.4866,T/0.5134;DB;DBA=NA;PAF=TA/0.4866,T/0.5134;NP=5;Gene=PAPPA2/NM_021936.2/0;CC=c.*448delA;VC=3UTR;Gene=PAPPA2/NM_020318.2/1;CC=c.2431+501delA;VC=Intron;DM=PAPPA2/Peptidase_M43;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,TA,I,T:68:57:5:54:3,1,25,4,35:31,7,682,160,1468:0.55,-0.08,0.00,9.14,107.37:-0.20,-0.01,0.00,8.17,64.03:0.76,-0.06,0.00,0.97,43.34:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:42.0,36.0,40.1,8.8,28.7:0,0,0,1,13:0,0,0,0,0:55,132,128,60,71:79,18,18,79,73:51,0,11,36,33:-,NM_020318.2(PAPPA2) c.2431+482delA:-,NOT_FOUND:-,NOT_FOUND 1 176660247 rs726252 C T 201 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.4353,T/0.5647;Gene=PAPPA2/NM_021936.2/0;CC=c.*628C>T;VC=3UTR;Gene=PAPPA2/NM_020318.2/1;CC=c.2431+681C>T;VC=Intron;DM=PAPPA2/Peptidase_M43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:G,T:55:25:0:0:1,54:12,1761:0.25,201.41:0.00,74.73:0.25,126.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:208.0,41.2:0,0:0,0:121,77:30,72:0,40:NM_020318.2(PAPPA2) c.2431+681C>T,NM_020318.2(PAPPA2) c.2431+681C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 1 176660342 . T . . NT END=176661261;NT GT ./. 1 176661455 . G . . NT END=176664873;NT GT ./. 1 176664996 . G . . NT END=176668235;NT GT ./. 1 176665102 . ATG A 18 idl,rn VT=DEL;SST=Single;DP=40;NP=16;PC=0.116;Gene=PAPPA2/NM_020318.2/1;CC=c.2746+147_2746+148delGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:ATG,G,I,A:39:11:2:8:29,1,2,7:801,10,68,258:0.00,-0.10,4.51,18.04:0.00,-0.06,-0.12,5.34:0.00,-0.04,4.63,12.70:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.99:60,60,60,60:16.5,170.0,0.0,2.0:0,0,0,1:0,0,0,0:110,101,49,38:41,50,101,98:37,0,14,13:-,NM_020318.2(PAPPA2) c.2746+108_2746+109delTG:-,NOT_FOUND:-,NOT_FOUND 1 176668726 . G . . NT END=176671742;NT GT ./. 1 176671872 . G . . NT END=176675494;NT GT ./. 1 176671914 rs2985893 A T 41 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=472;PC=0.001;Gene=PAPPA2/NM_020318.2/1;CC=c.3365+43A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:62:27:0:5:46,1,15:1419,13,490:0.00,-0.04,41.39:0.00,-0.09,12.29:0.00,0.05,29.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.9,66.0,53.8:1,0,0:0,0,0:95,54,111:44,75,36:31,0,20:-,NM_020318.2(PAPPA2) c.3365+43A>T:-,NOT_FOUND:-,NOT_FOUND 1 176675587 . G . . NT END=176679118;NT GT ./. 1 176679313 . G . . NT END=176680970;NT GT ./. 1 176681118 . G . . NT END=176708761;NT GT ./. 1 176686032 rs791034 A C 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1144,C/0.8856;PC=0.038;Gene=PAPPA2/NM_020318.2/1;CC=c.3798+4915A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:138:15.71:6.12:9.59:1.00:1.00:1.00:60:63.0:0:0:97:53:21:NM_020318.2(PAPPA2) c.3798+4915A>C,NM_020318.2(PAPPA2) c.3798+4915A>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 176708898 . G . . NT END=176709115;NT GT ./. 1 176709333 . G . . NT END=176734801;NT GT ./. 1 176734756 rs3737759 C T 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.6625,A/.,T/0.3375;Gene=PAPPA2/NM_020318.2/1;CC=c.4152-46C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:39:0:0:18,26:592,830:0.00,82.47:0.00,66.88:0.00,15.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,38.7:0,0:0,0:41,49:104,98:14,40:-,NM_020318.2(PAPPA2) c.4152-46C>T:-,0.31:-,0.39763 1 176734974 . G . . NT END=176738742;NT GT ./. 1 176738921 . G . . NT END=176740102;NT GT ./. 1 176740317 . G . . NT END=176758944;NT GT ./. 1 176758635 rs6425395 C A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6252,A/0.3748;PC=0.068;Gene=PAPPA2/NM_020318.2/1;CC=c.4716-310C>A;VC=Intron;DM=PAPPA2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,C:4:4:0:0:3,1:89,33:9.35,0.00:7.42,0.00:1.93,0.00:0.85,0.00:0.85,0.00:0.83,0.00:58,60:56.7,0.0:0,0:0,0:61,131:90,20:8,0:NM_020318.2(PAPPA2) c.4716-310C>A,-:0.33,-:NOT_FOUND,- 1 176759114 . G . . NT END=176760482;NT GT ./. 1 176760619 . G . . NT END=176762695;NT GT ./. 1 176760806 rs6425396 C T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6244,T/0.3756;Gene=PAPPA2/NM_020318.2/1;CC=c.5020+188C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:7:0:0:0:3,4:108,100:0.00,9.76:0.00,0.00:0.00,9.76:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,58.8:0,0:0,0:65,84:86,61:35,26:-,NM_020318.2(PAPPA2) c.5020+188C>T:-,0.34:-,NOT_FOUND 1 176762806 . G . . NT END=176769196;NT GT ./. 1 176769269 . G . . NT END=176809308;NT GT ./. 1 176769358 rs10913256 T C 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7746,C/0.2254;Gene=PAPPA2/NM_020318.2/1;CC=c.5202+90T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:5:0:0:9,12:272,351:25.18,0.00:6.85,0.00:18.33,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:42.0,8.2:0,0:0,0:127,90:24,60:15,42:NM_020318.2(PAPPA2) c.5202+90T>C,-:0.2,-:NOT_FOUND,- 1 176809368 rs12118034 C T 61 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.9044,T/0.09565;PC=0.905;Gene=PAPPA2/NM_020318.2/1;CC=c.5262C>T;ProtCh=p.D1754=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:30:0:0:19,19:616,637:0.00,61.33:0.00,38.07:0.00,23.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,38.2:0,0:0,0:92,89:58,58:20,19:-,NM_020318.2(PAPPA2) c.5262C>T (p.(=)):-,0.09:-,0.133051 1 176809408 . G . . NT END=176811515;NT GT ./. 1 176811591 . C . . NT END=176830202;NT GT ./. 1 176830978 rs6425397 C T 244 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.1558,T/0.8442;Gene=ASTN1/NM_001286164.1/0;CC=c.3648-4192G>A;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.*2442G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:G,T:69:49:0:0:1,68:9,2124:0.11,244.29:0.11,148.31:0.00,95.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:78.0,47.8:0,0:0,0:57,74:93,77:0,34:NM_004319.1(ASTN1) c.=,NM_004319.1(ASTN1) c.=:0.84,0.84:NOT_FOUND,NOT_FOUND 1 176831726 . c . . NT END=176831928;NT GT ./. 1 176832145 rs7513341 T G 146 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.7776,G/0.2224;Gene=ASTN1/NM_001286164.1/0;CC=c.3648-5359A>C;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.*1275A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:123:82:0:0:1,51,71:35,1579,2414:1.64,146.15,0.00:1.75,59.02,0.00:-0.11,87.13,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:35.0,35.4,6.7:0,0,0:0,0,0:111,81,73:40,66,74:0,36,32:NM_004319.1(ASTN1) c.*1275A>C,-:0.2,-:NOT_FOUND,- 1 176832613 rs6425398 C T 283 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.1354,T/0.8646;Gene=ASTN1/NM_001286164.1/0;CC=c.3647+5367G>A;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.*807G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:81:41:0:0:1,80:10,2459:0.12,283.50:0.12,110.39:0.00,173.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:212.0,41.1:0,0:0,0:64,79:80,66:0,39:NM_004319.1(ASTN1) c.=,NM_004319.1(ASTN1) c.=:0.85,0.85:NOT_FOUND,NOT_FOUND 1 176832806 rs17378620 C T 123 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.9772,T/0.02276;Gene=ASTN1/NM_001286164.1/0;CC=c.3647+5174G>A;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.*614G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:46:0:0:34,39:1093,1258:0.00,122.51:0.00,63.22:0.00,59.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,41.6:0,0:0,0:76,64:71,78:21,33:-,NM_004319.1(ASTN1) c.*614G>A:-,0.03:-,NOT_FOUND 1 176833658 . C . . NT END=176837953;NT GT ./. 1 176838164 . C . . NT END=176845672;NT GT ./. 1 176845528 rs2076341 C T 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1713,T/0.8287;Gene=ASTN1/NM_001286164.1/0;CC=c.3463+145G>A;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.3463+145G>A;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.3463+145G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:305:35.21:35.21:0.00:1.00:1.00:0.00:60:52.6:0:0:40:110:13:NM_004319.1(ASTN1) c.3463+145G>A,NM_004319.1(ASTN1) c.3463+145G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 176845774 . C . . NT END=176851994;NT GT ./. 1 176846034 rs2076342 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1713,T/0.8287;Gene=ASTN1/NM_001286164.1/0;CC=c.3363-261G>A;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.3363-261G>A;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.3363-261G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:228:26.14:0.00:26.14:1.00:0.00:1.00:60:37.1:0:0:104:47:25:NM_004319.1(ASTN1) c.3363-261G>A,NM_004319.1(ASTN1) c.3363-261G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 176852131 . C . . NT END=176853474;NT GT ./. 1 176852286 rs55837869 T C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9591,C/0.04093;PC=0.012;Gene=ASTN1/NM_001286164.1/0;CC=c.3227-156A>G;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.3227-156A>G;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.3227-156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:9:0:0:0:4,5:123,126:11.53,0.00:0.00,0.00:11.53,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:30.8,14.6:0,0:0,0:55,70:95,80:22,49:NM_004319.1(ASTN1) c.3227-156A>G,-:0.04,-:NOT_FOUND,- 1 176853627 . C . . NT END=176857206;NT GT ./. 1 176857341 . C . . NT END=176863697;NT GT ./. 1 176857347 rs2072935 A G 289 nt VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.1709,G/0.8291;Gene=ASTN1/NM_001286164.1/0;CC=c.2941-7T>C;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.2941-7T>C;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.2941-7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:36:0:0:75:2531:288.83:89.83:199.00:1.00:1.00:1.00:60:41.8:0:0:84:57:36:NM_004319.1(ASTN1) c.2941-7T>C,NM_004319.1(ASTN1) c.2941-7T>C:0.83,0.83:0.847301,0.847301 1 176863836 rs2281180 G C 425 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.1707,A/.,C/0.8293;PC=1.000;Gene=ASTN1/NM_001286164.1/0;CC=c.2802C>G;ProtCh=p.H934Q;VC=Missense;Gene=ASTN1/NM_004319.2/1;CC=c.2802C>G;ProtCh=p.H934Q;VC=Missense;Gene=ASTN1/NM_207108.2/0;CC=c.2802C>G;ProtCh=p.H934Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:112:73:0:0:111,1:3742,10:425.20,0.00:199.77,0.00:225.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.5,166.0:0,0:0,0:62,42:86,109:37,0:NM_004319.1(ASTN1) c.2802C>G (p.His934Gln),NM_004319.1(ASTN1) c.2802C>G (p.His934Gln):0.83,0.83:0.848301,0.848301 1 176863867 rs2228956 T C 394 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.1711,A/.,C/0.8289;PC=1.000;Gene=ASTN1/NM_001286164.1/0;CC=c.2771A>G;ProtCh=p.H924R;VC=Missense;Gene=ASTN1/NM_004319.2/1;CC=c.2771A>G;ProtCh=p.H924R;VC=Missense;Gene=ASTN1/NM_207108.2/0;CC=c.2771A>G;ProtCh=p.H924R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:107:63:0:0:107:3431:393.82:171.30:222.52:1.00:1.00:1.00:60:69.2:0:0:80:69:36:NM_004319.1(ASTN1) c.2771A>G (p.His924Arg),NM_004319.1(ASTN1) c.2771A>G (p.His924Arg):0.83,0.83:0.847301,0.847301 1 176863967 . C . . NT END=176903287;NT GT ./. 1 176903477 . C . . NT END=176905401;NT GT ./. 1 176905507 . C . . NT END=176913026;NT GT ./. 1 176913155 . C . . NT END=176915061;NT GT ./. 1 176913215 rs35968661 AT A 32 sb;idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=174;PC=0.011;Gene=ASTN1/NM_001286164.1/0;CC=c.2250-62delA;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.2250-62delA;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.2250-62delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:AT,I,A:35:11:10:16:15,8,12:434,297,486:0.00,20.23,32.47:0.00,7.93,0.90:0.00,12.31,31.57:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:7.6,20.8,23.0:0,2,4:0,0,0:138,115,77:10,33,60:7,12,20:-,NM_004319.1(ASTN1) c.2250-62delA:-,NOT_FOUND:-,NOT_FOUND 1 176915022 rs2076070 A G 58 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.76,G/0.24;Gene=ASTN1/NM_001286164.1/0;CC=c.2249+40T>C;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.2249+40T>C;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.2249+40T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:40:0:0:25,21:836,622:0.00,58.39:0.00,41.28:0.00,17.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,39.0:0,0:0,0:45,29:106,121:20,18:-,NM_004319.1(ASTN1) c.2249+40T>C:-,0.23:-,0.253037 1 176915257 . C . . NT END=176918320;NT GT ./. 1 176918136 rs4652208 A C 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4932,C/0.5068;Gene=ASTN1/NM_001286164.1/0;CC=c.2054+185T>G;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.2054+185T>G;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.2054+185T>G;VC=Intron;DM=ASTN1/FXa_inhibition;DM=ASTN1/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:281:32.39:32.39:0.00:1.00:1.00:0.00:60:39.9:0:0:83:67:51:NM_004319.1(ASTN1) c.2054+185T>G,NM_004319.1(ASTN1) c.2054+185T>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 176918488 . C . . NT END=176926813;NT GT ./. 1 176918675 rs2067038 T G 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.745,G/0.255;Gene=ASTN1/NM_001286164.1/0;CC=c.1888-188A>C;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.1888-188A>C;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.1888-188A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:0:0:0:10,10:348,285:33.57,0.00:0.00,0.00:33.57,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.3,52.5:0,0:0,0:125,109:24,30:21,23:NM_004319.1(ASTN1) c.1888-188A>C,-:0.24,-:NOT_FOUND,- 1 176926763 rs35655504 C G 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.9619,G/0.03814;Gene=ASTN1/NM_001286164.1/0;CC=c.1887+51G>C;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.1887+51G>C;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.1887+51G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:62:58:0:0:40,22:1256,690:0.00,61.98:0.00,41.18:0.00,20.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,40.7:0,0:0,0:29,35:119,115:14,23:-,NM_004319.1(ASTN1) c.1887+51G>C:-,0.04:-,0.050284 1 176926965 . C . . NT END=176927480;NT GT ./. 1 176927093 rs12076044 T A 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.9595,A/0.04054;PC=0.983;Gene=ASTN1/NM_001286164.1/0;CC=c.1737-129A>T;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.1737-129A>T;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.1737-129A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,T:22:0:0:0:8,14:157,401:13.20,0.00:0.00,0.00:13.20,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:35.8,13.4:0,0:0,0:91,102:59,49:30,24:NM_004319.1(ASTN1) c.1737-129A>T,-:0.04,-:NOT_FOUND,- 1 176927619 . C . . NT END=176934298;NT GT ./. 1 176934374 . C . . NT END=176983926;NT GT ./. 1 176954981 rs58828817 T TAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=4;Gene=ASTN1/NM_001286164.1/0;CC=c.1524-20609_1524-20608insGT;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.1524-20609_1524-20608insGT;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.1524-20609_1524-20608insGT;VC=Intron;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TAC:4:3:2:0:2,2:69,66:0.00,6.35:0.00,1.29:0.00,5.06:0.00,0.51:0.00,0.89:0.00,0.89:60,60:51.5,13.5:0,0:0,0:42,61:95,67:38,30:-,NM_004319.1(ASTN1) c.1524-20609_1524-20608insGT:-,NOT_FOUND:-,NOT_FOUND 1 176971512 rs60036792 AACAC A 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=30;Gene=ASTN1/NM_001286164.1/0;CC=c.1523+12411_1523+12414delGTGT;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.1523+12411_1523+12414delGTGT;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.1523+12411_1523+12414delGTGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A:2:2:0:4:2:131:6.75:5.06:1.69:0.51:0.79:0.89:60:141.0:2:0:42:107:30:NM_004319.1(ASTN1) c.1523+12411_1523+12414delGTGT,NM_004319.1(ASTN1) c.1523+12411_1523+12414delGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 176971552 rs71565487 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5537,T/0.4463;DB;DBA=NA;PAF=NA;Gene=ASTN1/NM_001286164.1/0;CC=c.1523+12375G>A;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.1523+12375G>A;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.1523+12375G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:131:15.01:3.78:11.23:1.00:1.00:1.00:60:54.8:0:0:97:53:20:NM_004319.1(ASTN1) c.1523+12375G>A,NM_004319.1(ASTN1) c.1523+12375G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 176984012 . C . . NT END=176992539;NT GT ./. 1 176992553 rs172917 A G 163 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.4858,G/0.5142;PC=0.067;Gene=ASTN1/NM_001286164.1/0;CC=c.1425T>C;ProtCh=p.C475=;VC=Silent;Gene=ASTN1/NM_004319.2/1;CC=c.1425T>C;ProtCh=p.C475=;VC=Silent;Gene=ASTN1/NM_207108.2/0;CC=c.1425T>C;ProtCh=p.C475=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:83:0:0:47,52:1561,1675:0.00,162.55:0.00,102.16:0.00,60.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,45.1:0,0:0,0:49,48:91,87:26,30:-,NM_004319.1(ASTN1) c.1425T>C (p.(=)):-,0.51:-,0.642033 1 176992676 rs10798496 C T 148 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.763,T/0.237;PC=1.000;Gene=ASTN1/NM_001286164.1/0;CC=c.1302G>A;ProtCh=p.Q434=;VC=Silent;Gene=ASTN1/NM_004319.2/1;CC=c.1302G>A;ProtCh=p.Q434=;VC=Silent;Gene=ASTN1/NM_207108.2/0;CC=c.1302G>A;ProtCh=p.Q434=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:52:0:0:43,48:1395,1524:0.00,147.97:0.00,56.35:0.00,91.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,41.3:0,0:0,0:96,91:50,56:34,27:-,NM_004319.1(ASTN1) c.1302G>A (p.(=)):-,0.25:-,0.376288 1 176992708 . C . . NT END=176993718;NT GT ./. 1 176993869 . C . . NT END=176998769;NT GT ./. 1 176998878 . C . . NT END=176999941;NT GT ./. 1 177000089 . C . . NT END=177001591;NT GT ./. 1 177000203 rs6682507 C T 44 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7612,T/0.2388;Gene=ASTN1/NM_001286164.1/0;CC=c.866-115G>A;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.866-115G>A;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.866-115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:3:0:0:10,14:324,441:0.00,43.66:0.00,3.01:0.00,40.65:0.00,1.00:0.00,0.93:0.00,1.00:60,60:8.5,34.0:0,0:0,0:126,95:24,55:14,41:-,NM_004319.1(ASTN1) c.866-115G>A:-,0.25:-,NOT_FOUND 1 177001986 . C . . NT END=177030213;NT GT ./. 1 177030402 . C . . NT END=177133529;NT GT ./. 1 177127791 rs56241515 C CGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=89;Gene=ASTN1/NM_001286164.1/0;CC=c.283+5738_283+5739insAC;VC=Intron;Gene=ASTN1/NM_004319.2/1;CC=c.283+5738_283+5739insAC;VC=Intron;Gene=ASTN1/NM_207108.2/0;CC=c.283+5738_283+5739insAC;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CGT,D:4:4:2:1:1,2,1:35,65,33:0.00,6.55,3.05:0.00,6.70,1.53:0.00,-0.15,1.53:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.79,0.00:60,60,60:0.0,0.0,0.0:0,0,0:0,0,0:48,59,85:48,91,65:0,31,0:-,NM_004319.1(ASTN1) c.283+5738_283+5739insAC:-,NOT_FOUND:-,NOT_FOUND 1 177133847 . A . . NT END=177199012;NT GT ./. 1 177199282 . G . . NT END=177225054;NT GT ./. 1 177225246 . G . . NT END=177225461;NT GT ./. 1 177226170 . G . . NT END=177226311;NT GT ./. 1 177226521 . G . . NT END=177242623;NT GT ./. 1 177242730 . G . . NT END=177245333;NT GT ./. 1 177245571 . G . . NT END=177247698;NT GT ./. 1 177247922 . G . . NT END=177249547;NT GT ./. 1 177250665 . T . . NT END=177898991;NT GT ./. 1 177250855 rs113470314 T TAC 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8399,TAC/0.1601;NP=2;NP=59;Gene=BRINP2/NM_021165.3/1;CC=c.*211_*212insAC;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:T,TAC:6:0:3:0:3,3:87,93:0.00,8.93:0.00,0.00:0.00,8.93:0.00,0.73:0.00,0.00:0.00,0.73:60,60:17.3,11.3:0,0:0,0:139,77:11,74:3,14:-,NM_021165.2(FAM5B) c.*210_*211dupAC:-,NOT_FOUND:-,NOT_FOUND 1 177323329 rs10573346 C G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7494,G/0.2506;NP=1;NP=51;Gene=LOC102724661/NR_126001.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C,G:4:2:0:0:1,1,2:9,35,72:0.65,0.00,7.25:0.00,0.00,3.78:0.65,0.00,3.48:0.00,0.00,0.51:0.00,0.00,0.79:0.00,0.00,0.51:60,60,60:18.0,12.0,36.0:0,0,0:0,0,0:72,117,112:44,34,26:0,0,11:-,chr1 g.177323328C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 177341851 . TAC T 9 rn VT=DEL;SST=Single;DP=6;PC=0.002;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:TAC,T:6:5:0:4:3,3:100,93:0.00,8.92:0.00,4.16:0.00,4.76:0.00,0.73:0.00,0.96:0.00,0.89:60,70:0.0,10.3:0,0:0,0:41,47:31,103:22,10:-,chr1 g.177341852_177341853delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 177822827 rs9425813 G GCACACACA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=5;NP=57;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:G,GCACACACA:3:4:3:0:1,2:36,102:0.00,6.85:0.00,5.21:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,28.5:0,1:0,0:71,27:38,111:0,2:-,chr1 g.177822827_177822828insCACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 177851756 rs495947 G C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.137,C/0.863 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:5:0:0:5:124:14.72:10.79:3.93:1.00:1.00:1.00:60:68.6:0:0:45:98:21:chr1 g.177851755G>C (intergenic),chr1 g.177851755G>C (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 177851821 rs71567173 TACACACAC T 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=58;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TACACACAC,T:3:5:0:4:1,2:33,123:0.00,6.64:0.00,4.46:0.00,2.18:0.00,0.46:0.00,0.46:0.00,0.87:60,60:35.0,64.0:0,2:0,0:131,70:19,76:0,9:-,chr1 g.177851822_177851829delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 177899065 . C . . NT END=177899678;NT GT ./. 1 177899779 . C . . NT END=177901623;NT GT ./. 1 177901705 . C . . NT END=177901831;NT GT ./. 1 177901945 . C . . NT END=177902347;NT GT ./. 1 177902448 . C . . NT END=177902617;NT GT ./. 1 177902772 . C . . NT END=177905431;NT GT ./. 1 177905174 rs2902210 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5327,C/0.4673;Gene=SEC16B/NM_033127.2/1;CC=c.2571+259A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:33.2:0:0:74:77:48:NM_033127.2(SEC16B) c.2571+259A>G,NM_033127.2(SEC16B) c.2571+259A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 177905501 . C . . NT END=177906347;NT GT ./. 1 177906649 . C . . NT END=177908835;NT GT ./. 1 177906657 rs6676302 G A 171 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.7582,A/0.2418;PC=0.058;Gene=SEC16B/NM_033127.2/1;CC=c.2204-9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:A,G:48:9:0:0:47,1:1510,13:171.48,0.00:19.44,0.00:152.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,94.0:0,0:0,0:91,148:48,3:29,0:NM_033127.2(SEC16B) c.2204-9C>T,NM_033127.2(SEC16B) c.2204-9C>T:0.21,0.21:0.212181,0.212181 1 177908913 . C . . NT END=177909743;NT GT ./. 1 177909850 . C . . NT END=177911033;NT GT ./. 1 177911176 . C . . NT END=177913694;NT GT ./. 1 177913802 . C . . NT END=177915553;NT GT ./. 1 177913980 rs532842 T C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.04014,A/.,C/0.9599;Gene=SEC16B/NM_033127.2/1;CC=c.1776-179A>G;VC=Intron;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:287:32.99:0.00:32.99:1.00:0.00:1.00:60:62.8:0:0:104:47:21:NM_033127.2(SEC16B) c.1776-179A>G,NM_033127.2(SEC16B) c.1776-179A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 177915474 rs842192 A C 100 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.2085,C/0.7915;Gene=SEC16B/NM_033127.2/1;CC=c.1775+81T>G;VC=Intron;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:26:0:0:26:872:99.60:99.60:0.00:1.00:1.00:0.00:60:48.2:0:0:46:104:33:NM_033127.2(SEC16B) c.1775+81T>G,NM_033127.2(SEC16B) c.1775+81T>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 177915667 . C . . NT END=177916958;NT GT ./. 1 177915778 rs74128490 A G 113 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.8798,G/0.1202;Gene=SEC16B/NM_033127.2/1;CC=c.1664-112T>C;VC=Intron;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:0:0:0:32:977:112.84:0.00:112.84:1.00:0.00:1.00:60:44.1:0:0:102:48:25:NM_033127.2(SEC16B) c.1664-112T>C,NM_033127.2(SEC16B) c.1664-112T>C:0.13,0.13:NOT_FOUND,NOT_FOUND 1 177916890 rs61816278 A AAGGGACAGGGAGGGGAGGTGAGGGG 63 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5495,G/0.4505;NP=109;PC=0.001;Gene=SEC16B/NM_033127.2/1;CC=c.1663+69_1663+70insCCCCTCACCTCCCCTCCCTGTCCCT;VC=Intron;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A,AAGGGACAGGGAGGGGAGGTGAGGGG:19:19:18:0:1,18:11,559:0.00,62.95:0.00,62.95:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:107.0,9.4:0,0:0,0:140,33:11,112:0,23:NM_033127.2(SEC16B) c.1663+69_1663+70insCCCCTCACCTCCCCTCCCTGTCCCT,NM_033127.2(SEC16B) c.1663+69_1663+70insCCCCTCACCTCCCCTCCCTGTCCCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 177917078 . C . . NT END=177917524;NT GT ./. 1 177917780 . A . . NT END=177921047;NT GT ./. 1 177918057 rs138602812 TACACACAC T 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=79;PC=0.190;Gene=SEC16B/NM_033127.2/1;CC=c.1546-988_1546-981delGTGTGTGT;VC=Intron;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:TACACACAC,T:7:0:0:3:4,3:122,99:0.00,9.26:0.00,0.00:0.00,9.26:0.00,0.69:0.00,0.00:0.00,0.69:60,60:16.8,23.0:0,0:0,0:138,28:9,123:7,10:-,NM_033127.2(SEC16B) c.1546-988_1546-981delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 177918165 rs1984159 A G,T 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1867,G/0.8133;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:G,T:4:0:0:0:3,1:104,9:11.46,0.78:0.00,0.00:11.46,0.78:0.85,0.00:0.00,0.00:0.85,0.00:60,48:34.7,219.0:0,0:0,0:118,23:33,125:10,0:NM_033127.2(SEC16B) c.1546-1088T>C,NM_033127.2(SEC16B) c.1546-1088T>A:0.82,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 177918499 rs10798583 G A 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3373,A/0.6627;Gene=SEC16B/NM_033127.2/1;CC=c.1546-1422C>T;VC=Intron;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:199:22.76:18.93:3.83:1.00:1.00:1.00:60:33.2:0:0:47:88:23:NM_033127.2(SEC16B) c.1546-1422C>T,NM_033127.2(SEC16B) c.1546-1422C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 177918518 . AACACAC A 10 rn VT=DEL;SST=Single;DP=6;NP=3;PC=0.006;Gene=SEC16B/NM_033127.2/1;CC=c.1546-1447_1546-1442delGTGTGT;VC=Intron;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:AACACAC,A:5:6:0:4:2,3:68,131:0.00,9.63:0.00,6.15:0.00,3.48:0.00,0.73:0.00,0.73:0.00,0.79:60,60:34.5,43.3:0,1:0,0:103,51:33,93:22,13:-,NM_033127.2(SEC16B) c.1546-1447_1546-1442delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 177921131 . C . . NT END=177923412;NT GT ./. 1 177923440 rs12129817 T G 249 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.8331,G/0.1669;PC=0.994;Gene=SEC16B/NM_033127.2/1;CC=c.1437A>C;ProtCh=p.P479=;VC=Silent;DM=SEC16B/Sec16_C;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:57:0:0:68:2163:248.66:139.63:109.03:1.00:1.00:1.00:60:35.4:0:0:58:89:31:NM_033127.2(SEC16B) c.1437A>C (p.(=)),NM_033127.2(SEC16B) c.1437A>C (p.(=)):0.17,0.17:0.215391,0.215391 1 177923512 . C . . NT END=177927265;NT GT ./. 1 177927498 . C . . NT END=177927973;NT GT ./. 1 177928111 . C . . NT END=177929475;NT GT ./. 1 177929539 . C . . NT END=177929924;NT GT ./. 1 177929554 rs10913472 C T 113 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.5337,T/0.4663;Gene=SEC16B/NM_033127.2/1;CC=c.937-16G>A;VC=Intron;DM=SEC16B/Sec16;DM=SEC16B/Sec16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:19:0:0:31:985:113.24:44.52:68.72:1.00:1.00:1.00:60:43.5:0:0:91:53:38:NM_033127.2(SEC16B) c.937-16G>A,NM_033127.2(SEC16B) c.937-16G>A:0.46,0.46:0.427524,0.427524 1 177929987 rs12040910 T C 346 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.1901,C/0.8099;Gene=SEC16B/NM_033127.2/1;CC=c.875A>G;ProtCh=p.H292R;VC=Missense;DM=SEC16B/Sec16;DM=SEC16B/Sec16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:55:0:0:96:3002:345.60:135.54:210.06:1.00:1.00:1.00:60:42.1:0:0:77:66:30:NM_033127.2(SEC16B) c.875A>G (p.His292Arg),NM_033127.2(SEC16B) c.875A>G (p.His292Arg):0.8,0.8:0.805216,0.805216 1 177930078 . C . . NT END=177930723;NT GT ./. 1 177930096 rs867275 T C 65 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.7338,C/0.2662;PC=0.006;Gene=SEC16B/NM_033127.2/1;CC=c.788-22A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:23:0:0:24,38:718,1224:65.23,0.00:20.72,0.00:44.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.1,25.9:0,0:0,0:100,105:48,43:34,32:NM_033127.2(SEC16B) c.788-22A>G,-:0.26,-:0.230567,- 1 177930319 rs945639 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7434,T/0.2566;Gene=SEC16B/NM_033127.2/1;CC=c.788-245G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:5:3:0:0:2,3:67,90:0.00,8.97:0.00,5.81:0.00,3.16:0.00,0.78:0.00,0.94:0.00,0.87:60,60:0.0,30.0:0,0:0,0:85,108:65,42:59,17:-,NM_033127.2(SEC16B) c.788-245G>A:-,0.25:-,NOT_FOUND 1 177930642 rs945640 G A 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5551,A/0.4449;Gene=SEC16B/NM_033127.2/1;CC=c.787+83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:39:0:0:20,21:656,647:62.80,0.00:60.20,0.00:2.60,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:45.4,1.6:0,0:0,0:57,28:94,119:22,22:NM_033127.2(SEC16B) c.787+83C>T,-:0.46,-:NOT_FOUND,- 1 177930870 . C . . NT END=177933304;NT GT ./. 1 177930894 rs945641 C T 267 nt VT=SNV;PN=A;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.2009,T/0.7991;Gene=SEC16B/NM_033127.2/1;CC=c.643-25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:76:26:0:0:1,75:10,2316:0.13,266.61:0.13,61.14:0.00,205.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:116.0,35.4:0,0:0,0:96,94:54,49:0,33:NM_033127.2(SEC16B) c.643-25G>A,NM_033127.2(SEC16B) c.643-25G>A:0.79,0.79:0.791729,0.791729 1 177931086 rs2862299 C T 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5787,T/0.4213;PC=0.015;Gene=SEC16B/NM_033127.2/1;CC=c.643-217G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T:9:0:0:0:1,8:35,257:0.00,28.15:0.00,0.00:0.00,28.15:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,50.0:0,0:0,0:104,117:47,34:0,29:-,NM_033127.2(SEC16B) c.643-217G>A:-,0.44:-,NOT_FOUND 1 177931122 rs10798585 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.779,A/0.221;Gene=SEC16B/NM_033127.2/1;CC=c.643-253C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:8:0:0:0:4,4:133,105:12.83,0.00:0.00,0.00:12.83,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:67.2,7.5:0,0:0,0:115,28:35,122:15,5:NM_033127.2(SEC16B) c.643-253C>T,-:0.23,-:NOT_FOUND,- 1 177933415 . C . . NT END=177934180;NT GT ./. 1 177933443 rs3813651 G A 68 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.5909,A/0.4091;PC=0.376;Gene=SEC16B/NM_033127.2/1;CC=c.534-29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:27:0:0:22,21:708,664:68.32,0.00:19.81,0.00:48.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.1,3.1:0,0:0,0:112,107:39,40:27,26:NM_033127.2(SEC16B) c.534-29C>T,-:0.44,-:0.442508,- 1 177933505 rs3813652 C T 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.7925,T/0.2075;Gene=SEC16B/NM_033127.2/1;CC=c.534-91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:3:0:0:12,14:372,464:0.00,45.29:0.00,2.90:0.00,42.38:0.00,1.00:0.00,0.91:0.00,1.00:60,60:2.8,60.6:0,0:0,0:122,112:28,38:24,18:-,NM_033127.2(SEC16B) c.534-91G>A:-,0.22:-,NOT_FOUND 1 177934044 rs10798587 T C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5775,C/0.4225;Gene=SEC16B/NM_033127.2/1;CC=c.533+138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:11:11:0:0:7,4:235,129:23.71,0.00:23.71,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:53.0,0.0:0,0:0,0:87,30:62,120:20,17:NM_033127.2(SEC16B) c.533+138A>G,-:0.45,-:NOT_FOUND,- 1 177934303 . C . . NT END=177935026;NT GT ./. 1 177934351 rs72703030 G T 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7961,T/0.2039;Gene=SEC16B/NM_033127.2/1;CC=c.413-49C>A;VC=Intron;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:39:17:0:0:15,24:495,749:0.00,74.99:0.00,26.40:0.00,48.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,48.0:0,0:0,0:86,107:65,44:35,30:-,NM_033127.2(SEC16B) c.413-49C>A:-,0.22:-,0.188487 1 177934467 rs12135725 T C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5867,C/0.4133;Gene=SEC16B/NM_033127.2/1;CC=c.413-165A>G;VC=Intron;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,T:14:0:0:0:11,3:353,93:37.37,0.00:0.00,0.00:37.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.1,14.7:0,0:0,0:92,95:58,31:20,42:NM_033127.2(SEC16B) c.413-165A>G,-:0.44,-:NOT_FOUND,- 1 177934591 rs6679120 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5775,C/0.4225;Gene=SEC16B/NM_033127.2/1;CC=c.413-289A>G;VC=Intron;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:0:0:0:3,2:72,70:7.16,0.00:0.00,0.00:7.16,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:66.7,0.0:0,0:0,0:133,77:17,72:1,3:NM_033127.2(SEC16B) c.413-289A>G,-:0.45,-:NOT_FOUND,- 1 177935050 rs1889981 T A 52 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7925,A/0.2075;Gene=SEC16B/NM_033127.2/1;CC=c.390A>T;ProtCh=p.P130=;VC=Silent;DM=SEC16B/Sec16_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:40:34:0:0:17,23:555,751:51.76,0.00:34.24,0.00:17.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,1.4:0,0:0,0:45,50:91,95:19,18:NM_033127.2(SEC16B) c.390A>T (p.(=)),-:0.22,-:0.193432,- 1 177935141 . C . . NT END=177936816;NT GT ./. 1 177935203 rs954502 A G 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5879,G/0.4121;Gene=SEC16B/NM_033127.2/1;CC=c.300-63T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:3:0:0:8,8:239,225:0.00,21.47:0.00,3.53:0.00,17.95:0.00,1.00:0.00,0.89:0.00,1.00:60,60:7.0,57.6:0,0:0,0:102,70:48,65:10,29:-,NM_033127.2(SEC16B) c.300-63T>C:-,0.44:-,NOT_FOUND 1 177935275 rs1415085 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1877,G/0.8123;Gene=SEC16B/NM_033127.2/1;CC=c.300-135T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:227:26.48:0.00:26.48:1.00:0.00:1.00:60:53.4:0:0:92:57:36:NM_033127.2(SEC16B) c.300-135T>C,NM_033127.2(SEC16B) c.300-135T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 177937117 . C . . NT END=178063627;NT GT ./. 1 178021151 rs55884738 C CTG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;NP=26;PC=0.002;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CTG:4:3:2:0:2,2:70,66:0.00,6.35:0.00,2.97:0.00,3.38:0.00,0.51:0.00,0.89:0.00,0.67:60,60:51.5,34.5:0,0:0,0:48,60:102,90:5,2:-,chr1 g.178021151_178021152insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 178058574 rs58282325 CGT C 6 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CGT,C:4:6:0:4:2,2:70,131:0.00,6.35:0.00,3.17:0.00,3.17:0.00,0.42:0.00,0.42:0.00,0.81:60,60:0.0,5.5:0,2:0,0:42,58:53,92:1,24:-,NM_170692.2(RASAL2) c.-764-u4289_-764-u4288delGT:-,NOT_FOUND:-,NOT_FOUND 1 178062739 rs316256 T C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=4;Gene=RASAL2-AS1/NR_027982.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:355:40.75:40.75:0.00:1.00:1.00:0.00:60:42.9:0:0:70:78:20:NR_027982.1(RASAL2-AS1) n.390A>G,NR_027982.1(RASAL2-AS1) n.390A>G:1,1:NOT_FOUND,NOT_FOUND 1 178062908 . T C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;NP=2;PC=0.407;Gene=RASAL2-AS1/NR_027982.1/0;VC=NonCoding;Gene=RASAL2/NM_170692.2/1;CC=c.-720T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:C,T:28:18:0:0:4,24:107,779:7.63,0.00:2.06,0.00:5.57,0.00:0.66,0.00:0.88,0.00:0.91,0.00:57,70:30.2,27.2:0,0:0,0:24,89:96,56:2,28:NR_027982.1(RASAL2-AS1) n.221A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 178062927 . G GCCGCCGCCGCCGCCGCCA 57 idl,nt VT=INS;SST=Single;DP=37;PC=0.007;Gene=RASAL2-AS1/NR_027982.1/0;VC=NonCoding;Gene=RASAL2/NM_170692.2/1;CC=c.-699_-698insGCCGCCGCCGCCGCCACC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCCGCCGCCGCCGCCGCCA:33:28:23:0:14,19:464,696:0.00,56.91:0.00,28.37:0.00,28.54:0.00,1.00:0.00,1.00:0.00,1.00:60,70:15.1,55.7:6,4:0,0:44,80:50,70:8,32:-,NR_027982.1(RASAL2-AS1) n.201_202insTGGCGGCGGCGGCGGCGG:-,NOT_FOUND:-,NOT_FOUND 1 178062930 rs1332947 A G 75 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.8423,G/0.1577;PC=0.039;Gene=RASAL2-AS1/NR_027982.1/0;VC=NonCoding;Gene=RASAL2/NM_170692.2/1;CC=c.-698A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:A,G:27:16:0:0:6,21:190,710:0.00,74.81:0.00,31.58:0.00,43.23:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.3,46.2:0,0:0,0:88,98:22,50:54,31:-,NR_027982.1(RASAL2-AS1) n.199T>C:-,0.15:-,NOT_FOUND 1 178063040 rs1855174 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8191,A/0.1809;PC=0.999;Gene=RASAL2-AS1/NR_027982.1/0;VC=NonCoding;Gene=RASAL2/NM_170692.2/1;CC=c.-588G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:236:27.38:0.00:27.38:1.00:0.00:1.00:70:67.5:0:0:104:40:28:NR_027982.1(RASAL2-AS1) n.89C>T,NR_027982.1(RASAL2-AS1) n.89C>T:0.19,0.19:NOT_FOUND,NOT_FOUND 1 178063551 rs316255 A C 189 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=69;PC=0.018;Gene=RASAL2/NM_170692.2/1;CC=c.-77A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:49:0:0:51:1650:189.23:168.32:20.90:1.00:1.00:1.00:60:51.5:0:0:45:106:32:NM_170692.2(RASAL2) c.-77A>C,NM_170692.2(RASAL2) c.-77A>C:1,1:NOT_FOUND,NOT_FOUND 1 178063830 . G . . NT END=178252698;NT GT ./. 1 178133641 rs5001544 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=90;PC=0.001;Gene=RASAL2/NM_170692.2/1;CC=c.202+69812C>T;VC=Intron;DM=RASAL2/RasGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:5:4:0:0:2,3:62,68:0.00,6.72:0.00,7.32:0.00,-0.60:0.00,0.78:0.00,0.97:0.00,0.87:60,60:16.5,96.7:0,1:0,0:85,64:42,87:0,3:-,NM_170692.2(RASAL2) c.202+69812C>T:-,NOT_FOUND:-,NOT_FOUND 1 178144637 rs7531975 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8722,T/0.1278;PC=0.002;Gene=RASAL2/NM_170692.2/1;CC=c.202+80808C>T;VC=Intron;DM=RASAL2/RasGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,T:5:4:0:0:2,3:60,104:0.00,10.37:0.00,5.38:0.00,4.99:0.00,0.78:0.00,0.97:0.00,0.78:60,60:0.0,34.7:0,0:0,0:75,73:39,28:0,17:-,NM_170692.2(RASAL2) c.202+80808C>T:-,0.13:-,NOT_FOUND 1 178149798 rs138053339 T TCACACACACA 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2183,TCACACACACA/0.7817,TCACACACACACA/.,TCTCACACACA/.;NP=1;NP=1;NP=3;PC=0.004;Gene=RASAL2/NM_170692.2/1;CC=c.202+85998_202+85999insACACACACAC;VC=Intron;DM=RASAL2/RasGAP;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,T,TCACACACACA:6:5:3:0:1,2,3:28,65,88:2.34,0.00,8.72:2.46,0.00,6.25:-0.12,0.00,2.47:0.00,0.00,0.73:0.00,0.00,0.96:0.00,0.00,0.51:60,60,60:35.0,21.0,3.0:0,0,0:0,0,0:143,106,46:8,30,103:0,0,24:-,NM_170692.2(RASAL2) c.202+85969_202+85970insCACACACACA:-,NOT_FOUND:-,NOT_FOUND 1 178252827 . G . . NT END=178269126;NT GT ./. 1 178269254 . G . . NT END=178310605;NT GT ./. 1 178310744 . G . . NT END=178341315;NT GT ./. 1 178341458 . G . . NT END=178358376;NT GT ./. 1 178358443 . G . . NT END=178359234;NT GT ./. 1 178359342 . G . . NT END=178389645;NT GT ./. 1 178389756 . G . . NT END=178408556;NT GT ./. 1 178408711 . G . . NT END=178410683;NT GT ./. 1 178410783 . G . . NT END=178411809;NT GT ./. 1 178412365 . G . . NT END=178414652;NT GT ./. 1 178414798 . G . . NT END=178420705;NT GT ./. 1 178420851 . G . . NT END=178421550;NT GT ./. 1 178421788 . G . . NT END=178423581;NT GT ./. 1 178423784 . G . . NT END=178425834;NT GT ./. 1 178426035 . G . . NT END=178426817;NT GT ./. 1 178427680 . G . . NT END=178433412;NT GT ./. 1 178433548 . G . . NT END=178435054;NT GT ./. 1 178433702 rs58822651 G GGTGT 9 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=6;PC=0.002;Gene=RASAL2/NM_170692.2/1;CC=c.3387+188_3387+189insTGTG;VC=Intron;Gene=RASAL2/NM_004841.3/0;CC=c.2964+188_2964+189insTGTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,T,GGTGT,D:22:2:6:2:14,1,5,2:396,13,147,63:0.00,0.27,9.43,4.58:0.00,-0.03,-0.16,-0.06:0.00,0.29,9.59,4.64:0.00,0.00,0.84,0.00:0.00,0.00,0.49,0.00:0.00,0.00,0.98,0.00:60,60,60,60:22.8,46.0,22.4,0.0:0,0,1,0:0,0,0,0:84,9,77,83:62,142,70,67:35,0,19,27:-,NM_170692.2(RASAL2) c.3387+155_3387+156insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 178435258 . G . . NT END=178436468;NT GT ./. 1 178436557 . G . . NT END=178439827;NT GT ./. 1 178439859 . G . . NT END=178442209;NT GT ./. 1 178442375 . C . . NT END=178482323;NT GT ./. 1 178482387 . G . . NT END=178483161;NT GT ./. 1 178482984 rs10798610 T G 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4395,G/0.5605;PC=0.005;Gene=TEX35/NM_001170723.1/0;CC=c.40-178T>G;VC=Intron;Gene=TEX35/NM_032126.4/1;CC=c.40-178T>G;VC=Intron;Gene=TEX35/NM_001170722.1/0;CC=c.64-178T>G;VC=Intron;Gene=TEX35/NM_001170724.1/0;CC=c.40-178T>G;VC=Intron;DM=TEX35/Tsc35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:C,G,T:16:16:0:0:1,9,6:10,282,180:0.25,28.06,0.00:0.25,28.06,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:89.0,52.7,18.7:0,0,0:0,0,0:19,28,67:132,123,82:0,17,47:NM_032126.4(TEX35) c.40-178T>G,-:0.58,-:NOT_FOUND,- 1 178483213 . G . . NT END=178483834;NT GT ./. 1 178483231 rs10913563 G A 71 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.6334,A/0.3666;PC=0.854;Gene=TEX35/NM_001170723.1/0;CC=c.90+19G>A;VC=Intron;Gene=TEX35/NM_032126.4/1;CC=c.90+19G>A;VC=Intron;Gene=TEX35/NM_001170722.1/0;CC=c.114+19G>A;VC=Intron;Gene=TEX35/NM_001170724.1/0;CC=c.90+19G>A;VC=Intron;DM=TEX35/Tsc35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:27:0:0:24,29:756,985:71.20,0.00:21.67,0.00:49.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.0,7.4:0,0:0,0:107,88:44,51:35,18:NM_032126.4(TEX35) c.90+19G>A,-:0.4,-:0.361602,- 1 178483904 . G . . NT END=178484993;NT GT ./. 1 178484834 rs10798611 A G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4357,G/0.5643;Gene=TEX35/NM_001170723.1/0;CC=c.160-160A>G;VC=Intron;Gene=TEX35/NM_032126.4/1;CC=c.160-160A>G;VC=Intron;Gene=TEX35/NM_001170722.1/0;CC=c.184-160A>G;VC=Intron;Gene=TEX35/NM_001170724.1/0;CC=c.160-160A>G;VC=Intron;DM=TEX35/Tsc35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:10,7:324,218:0.00,20.14:0.00,20.25:0.00,-0.12:0.00,0.98:0.00,0.98:0.00,0.61:60,60:16.4,67.4:0,0:0,0:36,44:114,107:36,29:-,NM_032126.4(TEX35) c.160-160A>G:-,0.58:-,NOT_FOUND 1 178485051 . G . . NT END=178485749;NT GT ./. 1 178485810 . G . . NT END=178489506;NT GT ./. 1 178489572 . G . . NT END=178489807;NT GT ./. 1 178489978 rs3813636 T G 127 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TEX35/NM_001170723.1/0;CC=c.512T>G;ProtCh=p.L171R;VC=Missense;Gene=TEX35/NM_032126.4/1;CC=c.512T>G;ProtCh=p.L171R;VC=Missense;Gene=TEX35/NM_001170722.1/0;CC=c.536T>G;ProtCh=p.L179R;VC=Missense;Gene=TEX35/NM_001170724.1/0;CC=c.512T>G;ProtCh=p.L171R;VC=Missense;DM=TEX35/Tsc35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:102:60:0:0:46,56:1359,1878:127.27,0.00:46.94,0.00:80.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,6.6:0,0:0,0:82,79:66,59:38,32:NM_032126.4(TEX35) c.512T>G (p.Leu171Arg),-:0.4,-:0.368599,- 1 178490010 . G . . NT END=178490356;NT GT ./. 1 178490400 . G . . NT END=178490806;NT GT ./. 1 178490948 . G . . NT END=178491626;NT GT ./. 1 178491785 rs60079347 C CT 59 rn VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.6444,CT/0.3556;DB;DBA=NA;PAF=C/0.6444,CT/0.3556,CTT/.;NP=9;PC=0.024;Gene=TEX35/NM_032126.4/1;CC=c.*214+5dupT;VC=3UTR;Gene=TEX35/NM_001170722.1/0;CC=c.611-643dupT;VC=Intron;Gene=TEX35/NM_001170724.1/0;CC=c.587-643dupT;VC=Intron;DM=TEX35/Tsc35;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:60:21:22:0:39,21:1183,687:0.00,58.67:0.00,25.23:0.00,33.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.3,13.6:0,1:0,0:102,86:48,64:30,22:-,NM_032126.4(TEX35) c.*214dupT:-,NOT_FOUND:-,NOT_FOUND 1 178491790 . T . . NT END=178745899;NT GT ./. 1 178658817 rs2811254 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.03514,A/0.9649 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:127:14.61:6.85:7.75:1.00:1.00:1.00:60:58.8:0:0:63:66:32:chr1 g.178658816G>A (intergenic),chr1 g.178658816G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 178716829 rs4651004 G A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8377,A/0.1623;PC=0.002;Gene=RALGPS2/NM_001286247.1/0;CC=c.-84+22275G>A;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.-84+22275G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:9:0:0:8,15:242,468:21.57,0.00:5.10,0.00:16.47,0.00:0.99,0.00:0.96,0.00:1.00,0.00:60,60:33.0,4.6:0,0:0,0:113,106:37,44:22,36:NM_152663.3(RALGPS2) c.-84+22275G>A,-:0.2,-:NOT_FOUND,- 1 178745798 rs547760020 CT C 26 idl,rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=699;Gene=RALGPS2/NM_001286247.1/0;CC=c.-83-5delT;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.-83-5delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:27:28:3:11:15,3,9:456,98,346:0.00,7.57,25.51:0.00,4.87,22.66:0.00,2.70,2.85:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.90:60,60,60:28.9,10.7,20.1:0,0,2:0,0,0:60,19,34:91,130,104:41,4,18:-,NM_152663.3(RALGPS2) c.-83-18delT:-,NOT_FOUND:-,NOT_FOUND 1 178745957 . G . . NT END=178753552;NT GT ./. 1 178746031 rs75184054 C T 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8478,T/0.1522;PC=0.002;Gene=RALGPS2/NM_001286247.1/0;CC=c.57+75C>T;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.57+75C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:5:0:0:12,13:373,408:0.00,39.50:0.00,3.40:0.00,36.09:0.00,1.00:0.00,0.97:0.00,1.00:60,60:9.5,33.0:0,0:0,0:104,116:46,35:29,30:-,NM_152663.3(RALGPS2) c.57+75C>T:-,0.19:-,NOT_FOUND 1 178753658 . G . . NT END=178754691;NT GT ./. 1 178754743 . G . . NT END=178777179;NT GT ./. 1 178776985 rs6690324 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1091;Gene=RALGPS2/NM_001286247.1/0;CC=c.214-195G>A;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.214-195G>A;VC=Intron;DM=RALGPS2/PH;DM=RALGPS2/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:34.0:0:0:25:125:14:NM_152663.3(RALGPS2) c.214-195G>A,NM_152663.3(RALGPS2) c.214-195G>A:1,1:NOT_FOUND,NOT_FOUND 1 178777264 . G . . NT END=178780449;NT GT ./. 1 178780540 . G . . NT END=178790746;NT GT ./. 1 178780650 rs12131426 A G 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3952,G/0.6048;Gene=RALGPS2/NM_001286247.1/0;CC=c.387+111A>G;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.387+111A>G;VC=Intron;DM=RALGPS2/PH;DM=RALGPS2/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:10:0:0:0:5,5:163,175:0.00,16.88:0.00,0.00:0.00,16.88:0.00,0.95:0.00,0.00:0.00,0.95:60,60:0.0,44.2:0,0:0,0:78,135:73,15:25,10:-,NM_152663.3(RALGPS2) c.387+111A>G:-,0.61:-,NOT_FOUND 1 178790583 rs2275099 T C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.599,C/0.401;Gene=RALGPS2/NM_001286247.1/0;CC=c.388-164T>C;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.388-164T>C;VC=Intron;DM=RALGPS2/PH;DM=RALGPS2/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:9:9:0:0:4,5:134,163:12.62,0.00:12.62,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:38.2,19.8:0,0:0,0:20,46:130,79:8,22:NM_152663.3(RALGPS2) c.388-164T>C,-:0.41,-:NOT_FOUND,- 1 178790840 . G . . NT END=178802558;NT GT ./. 1 178802686 . G . . NT END=178820263;NT GT ./. 1 178820159 rs1544124 C A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.3992,A/0.6008;PC=0.002;Gene=RALGPS2/NM_001286247.1/0;CC=c.607+17474C>A;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.607+17474C>A;VC=Intron;Gene=ANGPTL1/NM_004673.3/1;CC=c.*105G>T;VC=3UTR;DM=RALGPS2/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:21:0:0:9,12:250,409:23.01,0.00:23.01,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.2,4.8:0,0:0,0:29,21:121,129:21,10:NM_004673.3(ANGPTL1) c.*105G>T,-:0.61,-:NOT_FOUND,- 1 178820452 . C . . NT END=178821817;NT GT ./. 1 178822089 . C . . NT END=178822188;NT GT ./. 1 178822325 . C . . NT END=178822728;NT GT ./. 1 178822923 . C . . NT END=178834088;NT GT ./. 1 178834912 . T . . NT END=178846632;NT GT ./. 1 178846771 . G . . NT END=178848036;NT GT ./. 1 178848128 . G . . NT END=178852600;NT GT ./. 1 178852669 . G . . NT END=178854210;NT GT ./. 1 178854162 rs6425503 C T 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.3954,T/0.6046;Gene=RALGPS2/NM_001286247.1/0;CC=c.905-49C>T;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.905-49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:37:0:0:15,25:466,776:0.00,78.04:0.00,62.74:0.00,15.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,39.1:0,0:0,0:69,41:80,110:27,32:-,NM_152663.3(RALGPS2) c.905-49C>T:-,0.61:-,0.642626 1 178854347 . G . . NT END=178855103;NT GT ./. 1 178855256 . G . . NT END=178858776;NT GT ./. 1 178858711 rs10798635 C A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5929,A/0.4071;Gene=RALGPS2/NM_001286247.1/0;CC=c.1193-66C>A;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.1193-66C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,C:14:11:0:0:5,9:162,294:14.62,0.00:13.63,0.00:0.99,0.00:0.90,0.00:0.98,0.00:0.88,0.00:60,60:66.4,11.3:0,0:0,0:29,41:122,99:2,26:NM_152663.3(RALGPS2) c.1193-66C>A,-:0.41,-:0.49167,- 1 178858759 rs3753534 G A 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5929,A/0.4071,T/.;PC=0.537;Gene=RALGPS2/NM_001286247.1/0;CC=c.1193-18G>A;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.1193-18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:18:0:0:11,11:374,379:36.02,0.00:25.27,0.00:10.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.5,9.6:0,0:0,0:47,61:84,68:15,28:NM_152663.3(RALGPS2) c.1193-18G>A,-:0.41,-:0.494618,- 1 178858832 . G . . NT END=178861364;NT GT ./. 1 178861443 . G . . NT END=178863053;NT GT ./. 1 178863160 . G . . NT END=178866798;NT GT ./. 1 178866674 rs17674780 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8454,G/0.1546;Gene=RALGPS2/NM_001286247.1/0;CC=c.1354-125A>G;VC=Intron;Gene=RALGPS2/NM_152663.4/1;CC=c.1432-125A>G;VC=Intron;DM=RALGPS2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:5:5:0:0:1,4:34,100:0.00,10.77:0.00,10.77:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:33.0,74.0:0,0:0,0:12,64:139,85:0,18:-,NM_152663.3(RALGPS2) c.1432-125A>G:-,0.2:-,NOT_FOUND 1 178866892 . G . . NT END=178871240;NT GT ./. 1 178871347 . G . . NT END=178875910;NT GT ./. 1 178876003 . G . . NT END=178885464;NT GT ./. 1 178885495 . A . . NT END=179012982;NT GT ./. 1 178942702 . CTGTG C 6 idl,rn VT=DEL;SST=Single;DP=6;NP=10;PC=0.001;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CTGTG,C:4:6:0:4:2,2:71,111:0.00,6.45:0.00,6.18:0.00,0.26:0.00,0.42:0.00,0.42:0.00,0.73:60,60:0.0,5.0:0,2:0,0:124,68:26,82:5,31:-,chr1 g.178942703_178942706delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 179013360 . G . . NT END=179019413;NT GT ./. 1 179019501 . G . . NT END=179023663;NT GT ./. 1 179023774 . G . . NT END=179033061;NT GT ./. 1 179033234 . G . . NT END=179033439;NT GT ./. 1 179033632 . G . . NT END=179035934;NT GT ./. 1 179035995 . G . . NT END=179041047;NT GT ./. 1 179041280 . T . . NT END=179051263;NT GT ./. 1 179051523 . G . . NT END=179052074;NT GT ./. 1 179052189 . G . . NT END=179054762;NT GT ./. 1 179054557 . C CA 9 rn VT=INS;SST=Single;DP=12;NP=2;PC=0.031;Gene=TOR3A/NM_022371.3/1;CC=c.374-189_374-188insA;VC=Intron;DM=TOR3A/Torsin;DM=TOR3A/Torsin;DM=TOR3A/Torsin;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,CA,D:11:12:3:2:7,3,1:238,99,37:0.00,8.65,0.58:0.00,8.71,0.60:0.00,-0.06,-0.02:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.50,0.00:60,60,60:5.0,0.0,171.0:0,0,1:0,0,0:118,40,76:32,109,74:22,26,27:-,NM_022371.3(TOR3A) c.374-206_374-205insA:-,NOT_FOUND:-,NOT_FOUND 1 179055029 . G . . NT END=179057045;NT GT ./. 1 179057225 . G . . NT END=179063227;NT GT ./. 1 179063353 . G . . NT END=179064102;NT GT ./. 1 179065132 . T . . NT END=179076852;NT GT ./. 1 179078577 . C . . NT END=179079416;NT GT ./. 1 179079591 . C . . NT END=179079715;NT GT ./. 1 179079725 . a . . NT END=179081443;NT GT ./. 1 179081534 . C . . NT END=179084012;NT GT ./. 1 179084166 . C . . NT END=179086466;NT GT ./. 1 179086419 rs56346584 T TA 7 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=266;Gene=ABL2/NM_001136000.2/0;CC=c.1363+47_1363+48insT;VC=Intron;Gene=ABL2/NM_001168239.1/0;CC=c.1300+47_1300+48insT;VC=Intron;Gene=ABL2/NM_005158.4/0;CC=c.1363+47_1363+48insT;VC=Intron;Gene=ABL2/NM_001168236.1/0;CC=c.1345+47_1345+48insT;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.1408+47_1408+48insT;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.1345+47_1345+48insT;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.1408+47_1408+48insT;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.1345+47_1345+48insT;VC=Intron;DM=ABL2/Pkinase_Tyr;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:T,TA,D:35:35:4:3:29,3,3:880,131,83:0.00,6.90,5.42:0.00,5.69,5.55:0.00,1.22,-0.13:0.00,0.39,0.00:0.00,0.87,0.00:0.00,0.42,0.00:60,60,60:5.6,0.0,67.3:0,1,0:0,0,0:43,28,31:106,122,120:22,7,20:-,NM_007314.3(ABL2) c.1408+47_1408+48insT:-,NOT_FOUND:-,NOT_FOUND 1 179086652 . C . . NT END=179087721;NT GT ./. 1 179087900 . C . . NT END=179089324;NT GT ./. 1 179089239 . G GA 8 rn VT=INS;SST=Single;DP=12;NP=3;PC=0.154;Gene=ABL2/NM_001136000.2/0;CC=c.1000+85_1000+86insT;VC=Intron;Gene=ABL2/NM_001168239.1/0;CC=c.937+85_937+86insT;VC=Intron;Gene=ABL2/NM_005158.4/0;CC=c.1000+85_1000+86insT;VC=Intron;Gene=ABL2/NM_001168236.1/0;CC=c.982+85_982+86insT;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.1045+85_1045+86insT;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.982+85_982+86insT;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.1045+85_1045+86insT;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.982+85_982+86insT;VC=Intron;DM=ABL2/Pkinase_Tyr;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,GA,D:11:12:4:1:7,3,1:232,126,34:0.00,8.05,2.53:0.00,8.05,2.53:0.00,0.00,0.00:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.00,0.00:60,60,60:2.9,52.0,0.0:0,1,0:0,0,0:30,27,100:121,123,51:13,19,0:-,NM_007314.3(ABL2) c.1045+85_1045+86insT:-,NOT_FOUND:-,NOT_FOUND 1 179089410 . C . . NT END=179090729;NT GT ./. 1 179091003 . C . . NT END=179095511;NT GT ./. 1 179095808 . C . . NT END=179100445;NT GT ./. 1 179095895 . TA T 6 idl,rn VT=DEL;SST=Single;DP=29;NP=4;PC=0.007;Gene=ABL2/NM_001136000.2/0;CC=c.347-89delT;VC=Intron;Gene=ABL2/NM_001168239.1/0;CC=c.284-89delT;VC=Intron;Gene=ABL2/NM_005158.4/0;CC=c.347-89delT;VC=Intron;Gene=ABL2/NM_001168236.1/0;CC=c.329-89delT;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.392-89delT;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.329-89delT;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.392-89delT;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.329-89delT;VC=Intron;DM=ABL2/SH3_1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:TA,I,T:26:4:3:5:21,2,3:603,80,155:0.00,3.59,6.48:0.00,-0.06,-1.54:0.00,3.65,8.02:0.00,0.00,0.43:0.00,0.00,0.36:0.00,0.00,0.88:60,60,60:21.4,12.0,13.7:0,1,2:0,0,0:111,60,88:40,91,63:29,19,8:-,NM_007314.3(ABL2) c.392-89delT:-,NOT_FOUND:-,NOT_FOUND 1 179100045 rs1856968 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6334,T/0.3666;PC=0.008;Gene=ABL2/NM_001136000.2/0;CC=c.346+401G>A;VC=Intron;Gene=ABL2/NM_001168239.1/0;CC=c.283+401G>A;VC=Intron;Gene=ABL2/NM_005158.4/0;CC=c.346+401G>A;VC=Intron;Gene=ABL2/NM_001168236.1/0;CC=c.328+401G>A;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.391+401G>A;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.328+401G>A;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.391+401G>A;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.328+401G>A;VC=Intron;DM=ABL2/SH3_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:121:14.00:3.88:10.13:1.00:1.00:1.00:60:45.8:0:0:134:17:8:NM_007314.3(ABL2) c.391+401G>A,NM_007314.3(ABL2) c.391+401G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 1 179100291 rs2486998 T C 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5054,C/0.4946;PC=0.001;Gene=ABL2/NM_001136000.2/0;CC=c.346+155A>G;VC=Intron;Gene=ABL2/NM_001168239.1/0;CC=c.283+155A>G;VC=Intron;Gene=ABL2/NM_005158.4/0;CC=c.346+155A>G;VC=Intron;Gene=ABL2/NM_001168236.1/0;CC=c.328+155A>G;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.391+155A>G;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.328+155A>G;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.391+155A>G;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.328+155A>G;VC=Intron;DM=ABL2/SH3_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:335:38.27:38.27:0.00:1.00:1.00:0.00:60:58.3:0:0:30:120:16:NM_007314.3(ABL2) c.391+155A>G,NM_007314.3(ABL2) c.391+155A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 179100617 . C . . NT END=179112067;NT GT ./. 1 179112225 . G . . NT END=179198375;NT GT ./. 1 179112435 rs2791941 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6336,A/0.3664;Gene=ABL2/NM_001168236.1/0;CC=c.158-11819C>T;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.158-9926C>T;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.158-11819C>T;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.158-9926C>T;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.158-11819C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:257:29.51:0.00:29.51:1.00:0.00:1.00:60:38.5:0:0:68:82:55:NM_007314.3(ABL2) c.158-9926C>T,NM_007314.3(ABL2) c.158-9926C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 1 179153697 rs2636293 G A 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5523,A/0.4477;PC=1.000;Gene=ABL2/NM_001168236.1/0;CC=c.157+44679C>T;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.157+44679C>T;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.157+44679C>T;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.157+44679C>T;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.157+44679C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:1:0:0:15:471:54.25:3.38:50.87:1.00:1.00:1.00:60:34.1:0:0:89:61:21:NM_007314.3(ABL2) c.157+44679C>T,NM_007314.3(ABL2) c.157+44679C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 179171129 rs2816207 A G 80 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5002,G/0.4998;PC=0.006;Gene=ABL2/NM_001168236.1/0;CC=c.157+27247T>C;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.157+27247T>C;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.157+27247T>C;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.157+27247T>C;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.157+27247T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:7:0:0:22:698:80.28:13.32:66.97:1.00:1.00:1.00:60:42.1:0:0:125:26:11:NM_007314.3(ABL2) c.157+27247T>C,NM_007314.3(ABL2) c.157+27247T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 179171227 rs34598446 TA T 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TA/0.4874,T/0.5126;NP=96;PC=0.668;Gene=ABL2/NM_001168236.1/0;CC=c.157+27148delT;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.157+27148delT;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.157+27148delT;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.157+27148delT;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.157+27148delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TA,T:4:0:0:3:1,3:32,83:0.00,8.75:0.00,0.00:0.00,8.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:51.0,63.0:0,0:0,0:136,39:15,100:0,16:-,NM_007314.3(ABL2) c.157+27148delT:-,NOT_FOUND:-,NOT_FOUND 1 179190928 rs34844213 CAA C 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CAA/0.5627,C/0.4373;NP=128;PC=0.001;Gene=ABL2/NM_001168236.1/0;CC=c.157+7446_157+7447delTT;VC=Intron;Gene=ABL2/NM_001168237.1/0;CC=c.157+7446_157+7447delTT;VC=Intron;Gene=ABL2/NM_001168238.1/0;CC=c.157+7446_157+7447delTT;VC=Intron;Gene=ABL2/NM_007314.3/1;CC=c.157+7446_157+7447delTT;VC=Intron;Gene=ABL2/NM_001136001.1/0;CC=c.157+7446_157+7447delTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CAA,C:5:6:0:5:1,4:33,153:0.00,12.72:0.00,6.36:0.00,6.36:0.00,0.93:0.00,0.93:0.00,0.99:60,70:0.0,3.5:0,1:0,0:139,121:11,26:0,15:-,NM_007314.3(ABL2) c.157+7446_157+7447delTT:-,NOT_FOUND:-,NOT_FOUND 1 179198533 . C . . NT END=179271819;NT GT ./. 1 179198653 rs2306941 T C 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.522,C/0.478;Gene=ABL2/NM_001168236.1/0;CC=c.-121A>G;VC=5UTR;Gene=ABL2/NM_001168237.1/0;CC=c.-121A>G;VC=5UTR;Gene=ABL2/NM_001168238.1/0;CC=c.-121A>G;VC=5UTR;Gene=ABL2/NM_007314.3/1;CC=c.-121A>G;VC=5UTR;Gene=ABL2/NM_001136001.1/0;CC=c.-121A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:6:0:0:35:1033:119.79:14.39:105.40:1.00:1.00:1.00:70:40.1:0:0:111:31:27:NM_007314.3(ABL2) c.-121A>G,NM_007314.3(ABL2) c.-121A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 179198767 rs555665593 A ACGCCGC 45 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.9553,ACGC/0.005591,ACGCCGC/0.03914;NP=3;NP=4;NP=58;PC=0.207;Gene=ABL2/NM_001168236.1/0;CC=c.-236_-235insGCGGCG;VC=5UTR;Gene=ABL2/NM_001168237.1/0;CC=c.-236_-235insGCGGCG;VC=5UTR;Gene=ABL2/NM_001168238.1/0;CC=c.-236_-235insGCGGCG;VC=5UTR;Gene=ABL2/NM_007314.3/1;CC=c.-236_-235insGCGGCG;VC=5UTR;Gene=ABL2/NM_001136001.1/0;CC=c.-236_-235insGCGGCG;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,ACGCCGC:16:10:13:0:3,13:96,424:0.00,45.25:0.00,19.14:0.00,26.11:0.00,1.00:0.00,1.00:0.00,1.00:60,70:31.3,5.4:0,0:0,0:54,86:61,58:38,16:-,NM_007314.3(ABL2) c.-256GCG[9]:-,NOT_FOUND:-,NOT_FOUND 1 179198876 rs3122377 C G 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.492 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,G:7:0:0:0:2,5:27,169:0.00,17.52:0.00,0.00:0.00,17.52:0.00,0.98:0.00,0.00:0.00,0.98:60,60:72.0,40.4:0,0:0,0:57,115:80,29:9,24:-,NM_007314.3(ABL2) c.-287-u57G>C:-,0.33:-,NOT_FOUND 1 179254467 rs413881 G A 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7788,A/0.2212;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:33.8:0:0:35:109:15:chr1 g.179254466G>A (intergenic),chr1 g.179254466G>A (intergenic):0.22,0.22:NOT_FOUND,NOT_FOUND 1 179271938 . G . . NT END=179292571;NT GT ./. 1 179271948 . AT A 10 rn VT=DEL;SST=Single;DP=29;NP=37;Gene=SOAT1/NM_001252511.1/0;CC=c.3+23delT;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.-78+8889delT;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.118+23delT;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:AT,I,A:29:11:2:4:23,2,4:736,66,130:0.00,4.52,9.99:0.00,1.20,1.14:0.00,3.32,8.85:0.00,0.00,0.65:0.00,0.00,0.74:0.00,0.00,0.95:60,60,60:5.5,0.0,3.2:0,0,0:0,0,0:119,122,128:28,27,22:23,3,3:-,NM_003101.5(SOAT1) c.118+12delT:-,NOT_FOUND:-,0.027077 1 179272116 rs2493121 T A,G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3131,A/0.6869;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:2:A,G,T:7:0:0:0:5,1,1:140,11,10:15.11,0.70,0.00:0.00,0.00,0.00:15.11,0.70,0.00:0.98,0.00,0.00:0.00,0.00,0.00:0.98,0.00,0.00:60,60,60:50.2,40.0,114.0:0,0,0:0,0,0:125,18,99:26,130,51:13,0,0:NM_003101.5(SOAT1) c.118+179T>A,NM_003101.5(SOAT1) c.118+179T>G:0.7,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 179292442 rs2902277 G A 70 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4149,A/0.5851;Gene=SOAT1/NM_001252511.1/0;CC=c.4-12199G>A;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.-77-130G>A;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.119-130G>A;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:19:0:0:19:607:69.73:67.74:1.99:1.00:1.00:1.00:60:36.4:0:0:45:105:32:NM_003101.5(SOAT1) c.119-130G>A,NM_003101.5(SOAT1) c.119-130G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 179292631 . G . . NT END=179304640;NT GT ./. 1 179304793 . G . . NT END=179306971;NT GT ./. 1 179304892 rs1034269 T C 75 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4133,C/0.5867;Gene=SOAT1/NM_001252511.1/0;CC=c.155+100T>C;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.134+100T>C;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.329+100T>C;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A,C,G:23:2:0:0:1,21,1:13,662,10:0.53,75.37,0.33:0.53,1.87,0.00:0.00,73.51,0.33:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:141.0,37.2,68.0:0,0,0:0,0,0:149,101,75:2,50,76:0,19,0:NM_003101.5(SOAT1) c.329+100T>C,NM_003101.5(SOAT1) c.329+100T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 179307032 . G . . NT END=179308572;NT GT ./. 1 179308681 . G . . NT END=179310162;NT GT ./. 1 179308803 rs3753524 G A 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7448,A/0.2552;Gene=SOAT1/NM_001252511.1/0;CC=c.323+123G>A;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.302+123G>A;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.497+123G>A;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:180:20.86:0.00:20.86:1.00:0.00:1.00:60:35.3:0:0:87:64:47:NM_003101.5(SOAT1) c.497+123G>A,NM_003101.5(SOAT1) c.497+123G>A:0.26,0.26:NOT_FOUND,NOT_FOUND 1 179309955 rs71769743 GAT G 30 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=45;PC=0.001;Gene=SOAT1/NM_001252511.1/0;CC=c.324-187_324-186delAT;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.303-187_303-186delAT;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.498-187_498-186delAT;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:G:9:10:0:10:9:303:30.49:30.49:0.00:1.00:1.00:0.00:60:1.0:1:0:39:111:23:NM_003101.5(SOAT1) c.498-207_498-206delAT,NM_003101.5(SOAT1) c.498-207_498-206delAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 179310439 rs7547733 C T 203 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.9339,T/0.06609;PC=0.019;Gene=SOAT1/NM_001252511.1/0;CC=c.600C>T;ProtCh=p.F200=;VC=Silent;Gene=SOAT1/NM_001252512.1/0;CC=c.579C>T;ProtCh=p.F193=;VC=Silent;Gene=SOAT1/NM_003101.5/1;CC=c.774C>T;ProtCh=p.F258=;VC=Silent;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:25:0:0:54:1771:202.79:65.01:137.78:1.00:1.00:1.00:60:36.8:0:0:79:71:27:NM_003101.5(SOAT1) c.774C>T (p.(=)),NM_003101.5(SOAT1) c.774C>T (p.(=)):0.09,0.09:0.143264,0.143264 1 179310446 . G . . NT END=179311144;NT GT ./. 1 179310920 rs12044039 G A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7676,A/0.2324;Gene=SOAT1/NM_001252511.1/0;CC=c.607-329G>A;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.586-329G>A;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.781-329G>A;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:100:11.89:6.05:5.84:1.00:1.00:1.00:60:50.2:0:0:97:32:45:NM_003101.5(SOAT1) c.781-329G>A,NM_003101.5(SOAT1) c.781-329G>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 179311328 . G . . NT END=179311996;NT GT ./. 1 179311494 rs6673354 G A 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5222,A/0.4778;PC=0.949;Gene=SOAT1/NM_001252511.1/0;CC=c.685+167G>A;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.664+167G>A;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.859+167G>A;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:0:0:0:12:356:41.25:0.00:41.25:1.00:0.00:1.00:60:36.0:0:0:92:58:23:NM_003101.5(SOAT1) c.859+167G>A,NM_003101.5(SOAT1) c.859+167G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 1 179311602 rs3753525 T G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2045,G/0.7955;Gene=SOAT1/NM_001252511.1/0;CC=c.685+275T>G;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.664+275T>G;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.859+275T>G;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:155:17.88:4.08:13.80:1.00:1.00:1.00:60:54.6:0:0:92:58:8:NM_003101.5(SOAT1) c.859+275T>G,NM_003101.5(SOAT1) c.859+275T>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 179312079 . G . . NT END=179312724;NT GT ./. 1 179312102 rs4651024 T C 107 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.5433,C/0.4567;Gene=SOAT1/NM_001252511.1/0;CC=c.767+24T>C;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.746+24T>C;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.941+24T>C;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:12:0:0:29:930:106.83:33.55:73.27:1.00:1.00:1.00:60:38.6:0:0:105:46:20:NM_003101.5(SOAT1) c.941+24T>C,NM_003101.5(SOAT1) c.941+24T>C:0.49,0.49:0.469553,0.469553 1 179312249 rs11350945 AT A 35 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AT/0.5433,A/0.4567;NP=1068;PC=0.008;Gene=SOAT1/NM_001252511.1/0;CC=c.767+173delT;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.746+173delT;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.941+173delT;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:10:10:302:34.95:0.00:34.95:1.00:0.00:1.00:60:11.6:0:0:98:53:32:NM_003101.5(SOAT1) c.941+172delT,NM_003101.5(SOAT1) c.941+172delT:0.49,0.49:NOT_FOUND,NOT_FOUND 1 179312771 . G . . NT END=179314081;NT GT ./. 1 179314212 . G . . NT END=179316734;NT GT ./. 1 179316833 . G . . NT END=179317978;NT GT ./. 1 179317895 rs200924427 ATGTGTGTGTGTGTGTGTGTGTGTGTG A 23 sb;idl,nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=189;PC=0.002;Gene=SOAT1/NM_001252511.1/0;CC=c.1042-54_1042-29delGTGTGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1021-54_1021-29delGTGTGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1216-54_1216-29delGTGTGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATGTGTGTGTGTGTGTGTGTGTGTGTG,A:16:19:0:12:7,9:206,327:0.00,23.45:0.00,22.83:0.00,0.62:0.00,1.00:0.00,1.00:0.00,0.92:60,60:2.9,24.1:0,3:0,0:116,54:28,96:11,11:-,NM_003101.5(SOAT1) c.1216-83_1216-58delTGTGTGTGTGTGTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 179318078 . G . . NT END=179319430;NT GT ./. 1 179319221 rs7525946 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.740;Gene=SOAT1/NM_001252511.1/0;CC=c.1141-210A>G;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1120-210A>G;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1315-210A>G;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:219:25.23:25.23:0.00:1.00:1.00:0.00:60:42.1:0:0:57:94:29:NM_003101.5(SOAT1) c.1315-210A>G,NM_003101.5(SOAT1) c.1315-210A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 179319567 . G . . NT END=179320451;NT GT ./. 1 179319580 rs3753527 T C 224 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.2672,C/0.7328;Gene=SOAT1/NM_001252511.1/0;CC=c.1276+14T>C;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1255+14T>C;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1450+14T>C;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:C,T:60:25:0:0:59,1:1975,9:223.97,0.00:53.28,0.00:170.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,25.0:0,0:0,0:86,28:56,122:26,0:NM_003101.5(SOAT1) c.1450+14T>C,NM_003101.5(SOAT1) c.1450+14T>C:0.74,0.74:0.664847,0.664847 1 179319816 rs12140800 A G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2674,G/0.7326;PC=0.004;Gene=SOAT1/NM_001252511.1/0;CC=c.1276+250A>G;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1255+250A>G;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1450+250A>G;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:63.0:0:0:46:104:16:NM_003101.5(SOAT1) c.1450+250A>G,NM_003101.5(SOAT1) c.1450+250A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 179320249 rs13306727 G T 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5304,T/0.4696;PC=0.036;Gene=SOAT1/NM_001252511.1/0;CC=c.1277-203G>T;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1256-203G>T;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1451-203G>T;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:254:29.21:29.21:0.00:1.00:1.00:0.00:60:89.8:0:0:50:100:16:NM_003101.5(SOAT1) c.1451-203G>T,NM_003101.5(SOAT1) c.1451-203G>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 179320279 rs13306730 A G 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5304,G/0.4696;PC=0.003;Gene=SOAT1/NM_001252511.1/0;CC=c.1277-173A>G;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1256-173A>G;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1451-173A>G;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding;DM=SOAT1/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:356:40.81:40.81:0.00:1.00:1.00:0.00:60:72.5:0:0:77:74:27:NM_003101.5(SOAT1) c.1451-173A>G,NM_003101.5(SOAT1) c.1451-173A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 179320598 . G . . NT END=179322719;NT GT ./. 1 179320665 rs13306732 A G 177 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.6308,G/0.3692;Gene=SOAT1/NM_001252511.1/0;CC=c.1422+68A>G;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1401+68A>G;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1596+68A>G;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:G:49:18:0:0:49:1534:176.68:43.21:133.46:1.00:1.00:1.00:60:42.1:0:0:91:58:31:NM_003101.5(SOAT1) c.1596+68A>G,NM_003101.5(SOAT1) c.1596+68A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 1 179320845 rs56303406 A G 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5471,G/0.4529;PC=0.002;Gene=SOAT1/NM_001252511.1/0;CC=c.1422+248A>G;VC=Intron;Gene=SOAT1/NM_001252512.1/0;CC=c.1401+248A>G;VC=Intron;Gene=SOAT1/NM_003101.5/1;CC=c.1596+248A>G;VC=Intron;Gene=SOAT1/NR_045530.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:337:38.94:0.00:38.94:1.00:0.00:1.00:60:36.6:0:0:136:15:14:NM_003101.5(SOAT1) c.1596+248A>G,NM_003101.5(SOAT1) c.1596+248A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 179322777 . A . . NT END=179335644;NT GT ./. 1 179335499 rs397729594 C CT 10 idl,rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5002,CT/0.4998;DB;DBA=NA;PAF=NA;NP=66;Gene=AXDND1/NM_144696.5/1;CC=c.-106-25dupT;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CT:5:9:7:0:2,3:68,226:0.00,9.55:0.00,9.55:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:22.5,97.7:0,4:0,0:68,54:82,97:67,27:-,NM_144696.4(AXDND1) c.-106-40_-106-39insT:-,NOT_FOUND:-,NOT_FOUND 1 179335742 . G . . NT END=179337934;NT GT ./. 1 179335929 rs374615469 ACTC A 17 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=ACTC/0.5226,A/0.4774;DB;DBA=NA;PAF=ACTC/0.5226,A/0.4774;NP=231;Gene=AXDND1/NM_144696.5/1;CC=c.97+190_97+192delTCC;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:ACTC,A:6:0:0:5:1,5:25,155:0.00,16.71:0.00,0.00:0.00,16.71:0.00,0.99:0.00,0.00:0.00,0.99:60,60:23.0,75.6:0,0:0,0:143,113:2,37:0,8:-,NM_144696.4(AXDND1) c.97+189_97+191delCTC:-,0.5:-,NOT_FOUND 1 179335952 rs11804234 C A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4235,A/0.5765;Gene=AXDND1/NM_144696.5/1;CC=c.97+211C>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:119:13.80:0.00:13.80:1.00:0.00:1.00:60:94.5:0:0:132:18:5:NM_144696.4(AXDND1) c.97+211C>A,NM_144696.4(AXDND1) c.97+211C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 179335960 rs11804236 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5489,T/0.4511;PC=0.001;Gene=AXDND1/NM_144696.5/1;CC=c.97+219C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:117:13.61:0.00:13.61:1.00:0.00:1.00:60:94.5:0:0:140:10:5:NM_144696.4(AXDND1) c.97+219C>T,NM_144696.4(AXDND1) c.97+219C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 179338108 . G . . NT END=179339109;NT GT ./. 1 179339214 . G . . NT END=179347771;NT GT ./. 1 179339334 rs6666358 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3251,A/0.6749;Gene=AXDND1/NM_144696.5/1;CC=c.374+121G>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:200:22.86:0.00:22.86:1.00:0.00:1.00:60:48.8:0:0:77:73:17:NM_144696.4(AXDND1) c.374+121G>A,NM_144696.4(AXDND1) c.374+121G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 179339415 rs6666455 G A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6633,A/0.3367;Gene=AXDND1/NM_144696.5/1;CC=c.374+202G>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:60:50.0:0:0:97:53:29:NM_144696.4(AXDND1) c.374+202G>A,NM_144696.4(AXDND1) c.374+202G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 1 179347832 rs10798674 T C 198 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.4882,C/0.5118;PC=0.712;Gene=AXDND1/NM_144696.5/1;CC=c.435T>C;ProtCh=p.V145=;VC=Silent;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;DM=AXDND1/Ax_dynein_light GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C:52:33:0:0:52:1732:197.94:85.35:112.59:1.00:1.00:1.00:60:38.0:0:0:58:78:30:NM_144696.4(AXDND1) c.435T>C (p.(=)),NM_144696.4(AXDND1) c.435T>C (p.(=)):0.51,0.51:0.415501,0.415501 1 179347893 . G . . NT END=179348531;NT GT ./. 1 179348618 . G . . NT END=179351834;NT GT ./. 1 179351892 . G . . NT END=179352576;NT GT ./. 1 179352680 . G . . NT END=179354372;NT GT ./. 1 179354304 rs7541905 A G 100 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2224,G/0.7776;Gene=AXDND1/NM_144696.5/1;CC=c.742-69A>G;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;DM=AXDND1/Ax_dynein_light;DM=AXDND1/Ax_dynein_light;DM=AXDND1/Ax_dynein_light;DM=AXDND1/Ax_dynein_light GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:23:0:0:27:874:100.22:73.57:26.65:1.00:1.00:1.00:60:39.0:0:0:35:112:20:NM_144696.4(AXDND1) c.742-69A>G,NM_144696.4(AXDND1) c.742-69A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 179354495 . G . . NT END=179363037;NT GT ./. 1 179363179 . G . . NT END=179364232;NT GT ./. 1 179364338 . G . . NT END=179380280;NT GT ./. 1 179364391 rs61173288 A G 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.6366,G/0.3634;Gene=AXDND1/NM_144696.5/1;CC=c.1109+54A>G;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;DM=AXDND1/Ax_dynein_light;DM=AXDND1/Ax_dynein_light;DM=AXDND1/Ax_dynein_light GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:8:0:0:29:938:107.55:22.02:85.53:1.00:1.00:1.00:60:36.8:0:0:106:45:24:NM_144696.4(AXDND1) c.1109+54A>G,NM_144696.4(AXDND1) c.1109+54A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 1 179380402 . G . . NT END=179398652;NT GT ./. 1 179380472 rs5779024 GT G 130 rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2887;PC=0.170;Gene=AXDND1/NM_144696.5/1;CC=c.1230+79delT;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:GT,G:37:11:0:36:1,36:36,1150:0.00,130.17:0.00,19.09:0.00,111.08:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,1.7:0,0:0,0:141,101:8,48:0,18:NM_144696.4(AXDND1) c.1230+72delT,NM_144696.4(AXDND1) c.1230+72delT:0.6,0.6:NOT_FOUND,NOT_FOUND 1 179380640 rs6662500 C T 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6378,T/0.3622;Gene=AXDND1/NM_144696.5/1;CC=c.1230+239C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,T:7:0:0:0:1,6:13,202:0.95,22.66:0.00,0.00:0.95,22.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:178.0,35.3:0,0:0,0:149,124:1,27:0,21:NM_144696.4(AXDND1) c.1230+239C>T,NM_144696.4(AXDND1) c.1230+239C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 1 179398536 rs6662859 G A 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1274,A/0.8726;PC=0.014;Gene=AXDND1/NM_144696.5/1;CC=c.1231-117G>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:162:19.02:19.02:0.00:1.00:1.00:0.00:60:68.3:0:0:33:117:15:NM_144696.4(AXDND1) c.1231-117G>A,NM_144696.4(AXDND1) c.1231-117G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 179398563 rs4652382 C G 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2244,G/0.7756;PC=0.001;Gene=AXDND1/NM_144696.5/1;CC=c.1231-90C>G;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:291:33.86:33.86:0.00:1.00:1.00:0.00:60:54.4:0:0:37:113:22:NM_144696.4(AXDND1) c.1231-90C>G,NM_144696.4(AXDND1) c.1231-90C>G:0.77,0.77:NOT_FOUND,NOT_FOUND 1 179398755 . G . . NT END=179399586;NT GT ./. 1 179399742 . G . . NT END=179401401;NT GT ./. 1 179399904 rs11581470 C T 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6382,T/0.3618;Gene=AXDND1/NM_144696.5/1;CC=c.1487+163C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:266:30.42:0.00:30.42:1.00:0.00:1.00:60:40.2:0:0:111:39:25:NM_144696.4(AXDND1) c.1487+163C>T,NM_144696.4(AXDND1) c.1487+163C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 1 179401478 . G . . NT END=179414104;NT GT ./. 1 179401564 rs572068654 CT C 16 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=563;PC=0.942;Gene=AXDND1/NM_144696.5/1;CC=c.1563+99delT;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CT,T,C:8:2:0:6:2,1,5:69,11,154:0.00,0.60,15.91:0.00,-0.03,1.52:0.00,0.63,14.39:0.00,0.00,1.00:0.00,0.00,0.88:0.00,0.00,1.00:60,60,60:52.0,11.0,5.2:0,0,0:0,0,0:137,21,97:13,128,54:2,0,33:-,NM_144696.4(AXDND1) c.1563+88delT:-,NOT_FOUND:-,NOT_FOUND 1 179414340 . G . . NT END=179437577;NT GT ./. 1 179416878 rs7521291 C T 84 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.6707,T/0.3293;PC=1.000;Gene=AXDND1/NM_144696.5/1;CC=c.1798+2539C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:9:0:0:22:740:84.49:31.72:52.78:1.00:1.00:1.00:60:40.1:0:0:84:67:23:NM_144696.4(AXDND1) c.1798+2539C>T,NM_144696.4(AXDND1) c.1798+2539C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 1 179417347 rs6425558 C T 37 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2198,T/0.7802;PC=1.000;Gene=AXDND1/NM_144696.5/1;CC=c.1798+3008C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:9:0:0:11:319:37.09:24.57:12.52:1.00:1.00:1.00:60:43.6:0:0:96:45:27:NM_144696.4(AXDND1) c.1798+3008C>T,NM_144696.4(AXDND1) c.1798+3008C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 179437777 . G . . NT END=179452262;NT GT ./. 1 179437827 rs7514278 G A 89 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1408,A/0.8592,T/.;PC=0.001;Gene=AXDND1/NM_144696.5/1;CC=c.1997+51G>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:10:0:0:25:768:88.59:23.09:65.50:1.00:1.00:1.00:60:36.8:0:0:111:39:16:NM_144696.4(AXDND1) c.1997+51G>A,NM_144696.4(AXDND1) c.1997+51G>A:0.86,0.86:0.856779,0.856779 1 179452194 rs6668035 C T 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.4567,T/0.5433;PC=0.001;Gene=AXDND1/NM_144696.5/1;CC=c.1998-69C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G,T:13:11:0:0:1,12:11,385:0.56,43.80:0.56,32.48:0.00,11.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.0,53.2:0,0:0,0:9,31:142,118:0,24:NM_144696.4(AXDND1) c.1998-69C>T,NM_144696.4(AXDND1) c.1998-69C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 179452357 . G . . NT END=179460672;NT GT ./. 1 179452522 rs12407885 G C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4573,C/0.5427;Gene=AXDND1/NM_144696.5/1;CC=c.2091+166G>C;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:241:27.44:0.00:27.44:1.00:0.00:1.00:60:34.4:0:0:81:70:16:NM_144696.4(AXDND1) c.2091+166G>C,NM_144696.4(AXDND1) c.2091+166G>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 179460873 . G . . NT END=179461989;NT GT ./. 1 179461027 rs4652401 T C 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6484,C/0.3516;Gene=AXDND1/NM_144696.5/1;CC=c.2291+155T>C;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:C:15:0:0:0:15:362:43.15:0.00:43.15:1.00:0.00:1.00:60:52.8:0:0:68:78:28:NM_144696.4(AXDND1) c.2291+155T>C,NM_144696.4(AXDND1) c.2291+155T>C:0.36,0.36:NOT_FOUND,NOT_FOUND 1 179462087 . G . . NT END=179475967;NT GT ./. 1 179462149 rs7549194 A G 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.002196,G/0.9978;NP=3444;Gene=AXDND1/NM_144696.5/1;CC=c.2388+63A>G;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:4:0:0:15:461:53.23:8.79:44.44:1.00:1.00:1.00:60:35.9:0:0:106:45:19:NM_144696.4(AXDND1) c.2388+63A>G,NM_144696.4(AXDND1) c.2388+63A>G:1,1:NOT_FOUND,NOT_FOUND 1 179476062 . G . . NT END=179478430;NT GT ./. 1 179478539 . G . . NT END=179494468;NT GT ./. 1 179494583 . G . . NT END=179497461;NT GT ./. 1 179494665 rs4620484 C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1166,T/0.8834;Gene=AXDND1/NM_144696.5/1;CC=c.2610+83C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:2:0:0:6:205:23.36:3.98:19.38:1.00:1.00:1.00:60:40.2:0:0:70:80:35:NM_144696.4(AXDND1) c.2610+83C>T,NM_144696.4(AXDND1) c.2610+83C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 179497359 rs6698201 T C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1186,C/0.8814;Gene=AXDND1/NM_144696.5/1;CC=c.2611-103T>C;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:309:35.19:35.19:0.00:1.00:1.00:0.00:60:39.9:0:0:54:97:35:NM_144696.4(AXDND1) c.2611-103T>C,NM_144696.4(AXDND1) c.2611-103T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 179497567 . G . . NT END=179502929;NT GT ./. 1 179502761 rs66461504 CTT C 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CTT/0.3075,C/0.6925;NP=13;Gene=AXDND1/NM_144696.5/1;CC=c.2716-152_2716-151delTT;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:4:0:4:2:114:6.55:6.55:0.00:0.51:0.51:0.00:60:80.5:2:0:65:84:10:NM_144696.4(AXDND1) c.2716-168_2716-167delTT,NM_144696.4(AXDND1) c.2716-168_2716-167delTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 179503013 . G . . NT END=179503864;NT GT ./. 1 179503698 rs6425571 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6717,A/0.3283;Gene=AXDND1/NM_144696.5/1;CC=c.2799-167G>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:17:0:0:8,11:258,323:24.01,0.00:21.37,0.00:2.63,0.00:0.99,0.00:1.00,0.00:0.89,0.00:60,60:56.8,16.0:0,0:0,0:26,35:124,115:22,9:NM_144696.4(AXDND1) c.2799-167G>A,-:0.33,-:NOT_FOUND,- 1 179503806 rs6425572 G A 74 nt VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.6474,A/0.3526;PC=0.002;Gene=AXDND1/NM_144696.5/1;CC=c.2799-59G>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:41:0:0:23,27:778,804:73.85,0.00:51.47,0.00:22.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,10.1:0,0:0,0:47,50:101,94:35,38:NM_144696.4(AXDND1) c.2799-59G>A,-:0.36,-:NOT_FOUND,- 1 179504025 rs141228272 AAAG A 54 PASS VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=1776;Gene=AXDND1/NM_144696.5/1;CC=c.2971_2973delGAA;ProtCh=p.E991del;VC=InFrameDel;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAG,A:46:26:0:19:27,19:862,582:0.00,53.72:0.00,30.68:0.00,23.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,68.1:0,0:0,0:82,34:66,114:49,13:-,NM_144696.4(AXDND1) c.2962GAA[3] (p.Glu988[3]):-,0.36:-,NOT_FOUND 1 179504043 rs6658180 C G 56 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.6186,G/0.3814;Gene=AXDND1/NM_144696.5/1;CC=c.2977C>G;ProtCh=p.Q993E;VC=Missense;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:24:0:0:23,18:750,597:0.00,56.07:0.00,27.84:0.00,28.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,67.1:0,0:0,0:49,49:96,100:35,12:-,NM_144696.4(AXDND1) c.2977C>G (p.Gln993Glu):-,0.38:-,0.330534 1 179504098 . G . . NT END=179520307;NT GT ./. 1 179504130 rs6425574 G A 57 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.6474,A/0.3526,C/.;PC=0.003;Gene=AXDND1/NM_144696.5/1;CC=c.3031+33G>A;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:44:17:0:0:19,24,1:607,779,11:56.93,0.00,0.01:22.30,0.00,-0.05:34.63,0.00,0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:64.4,8.1,33.0:0,0,0:0,0,0:123,93,26:27,57,124:14,15,0:NM_144696.4(AXDND1) c.3031+33G>A,-:0.36,-:0.308342,- 1 179504310 rs10494517 A C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.647,C/0.353;PC=0.016;Gene=AXDND1/NM_144696.5/1;CC=c.3031+213A>C;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,C:5:0:0:0:2,3:63,104:0.00,10.37:0.00,0.00:0.00,10.37:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,34.7:0,0:0,0:137,39:13,112:5,25:-,NM_144696.4(AXDND1) c.3031+213A>C:-,0.36:-,NOT_FOUND 1 179520108 rs2274623 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8083,T/0.1917;Gene=AXDND1/NM_144696.5/1;CC=c.3032-3539C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;Gene=NPHS2/NM_001297575.1/0;CC=c.*200G>A;VC=3UTR;Gene=NPHS2/NM_014625.3/1;CC=c.*200G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:288:33.09:33.09:0.00:1.00:1.00:0.00:60:67.7:0:0:75:76:21:NM_014625.2(NPHS2) c.*200G>A,NM_014625.2(NPHS2) c.*200G>A:0.19,0.19:NOT_FOUND,NOT_FOUND 1 179520151 rs1410590 C T 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.09485,T/0.9052;Gene=AXDND1/NM_144696.5/1;CC=c.3032-3496C>T;VC=Intron;Gene=AXDND1/NR_073544.1/0;VC=NonCoding;Gene=NPHS2/NM_001297575.1/0;CC=c.*157G>A;VC=3UTR;Gene=NPHS2/NM_014625.3/1;CC=c.*157G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:19:0:0:19:655:74.56:74.56:0.00:1.00:1.00:0.00:60:62.5:0:0:40:111:30:NM_014625.2(NPHS2) c.*157G>A,NM_014625.2(NPHS2) c.*157G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 179520587 . C . . NT END=179521737;NT GT ./. 1 179521817 . C . . NT END=179523610;NT GT ./. 1 179523655 . A . . NT END=179526161;NT GT ./. 1 179526366 . C . . NT END=179528813;NT GT ./. 1 179528897 . C . . NT END=179530423;NT GT ./. 1 179530497 . C . . NT END=179533824;NT GT ./. 1 179533929 . C . . NT END=179544725;NT GT ./. 1 179544898 rs1079292 T C 625 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=178;DB;DBA=NA;PAF=T/0.06909,C/0.9309;Gene=NPHS2/NM_001297575.1/0;CC=c.102A>G;ProtCh=p.G34=;VC=Silent;Gene=NPHS2/NM_014625.3/1;CC=c.102A>G;ProtCh=p.G34=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:178:91:0:0:1,176,1:9,5427,6:0.05,625.41,0.02:0.00,241.77,0.02:0.05,383.64,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:62.0,40.4,78.0:0,0,0:0,0,0:89,80,25:62,65,125:0,36,0:NM_014625.2(NPHS2) c.102A>G (p.(=)),NM_014625.2(NPHS2) c.102A>G (p.(=)):0.94,0.94:0.966324,0.966324 1 179545000 . C . . NT END=179561750;NT GT ./. 1 179555947 rs4475708 G C 176 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.4321,C/0.5679;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:C:52:28:0:0:52:1511:175.56:67.21:108.36:1.00:1.00:1.00:60:38.7:0:0:88:60:35:NM_001199085.1(TDRD5) c.-518-u4810G>C,NM_001199085.1(TDRD5) c.-518-u4810G>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 179556306 rs3926126 T C 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.002995,C/0.997;NP=3457;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:5:0:0:8:230:26.79:17.88:8.91:1.00:1.00:1.00:60:47.0:0:0:79:67:58:NM_001199085.1(TDRD5) c.-518-u4451T>C,NM_001199085.1(TDRD5) c.-518-u4451T>C:1,1:NOT_FOUND,NOT_FOUND 1 179561527 rs35577489 C G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7606,G/0.2394,T/.;Gene=TDRD5/NM_001199091.1/0;CC=c.-224C>G;VC=5UTR;Gene=TDRD5/NM_001199085.1/0;CC=c.-14-210C>G;VC=Intron;Gene=TDRD5/NM_173533.3/0;CC=c.-14-210C>G;VC=Intron;Gene=TDRD5/NM_001199089.1/1;CC=c.-14-210C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:55.0:0:0:45:106:0:NM_001199085.1(TDRD5) c.-14-210C>G,NM_001199085.1(TDRD5) c.-14-210C>G:0.23,0.23:NOT_FOUND,NOT_FOUND 1 179561645 rs4652418 A C 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.2208,C/0.7792;Gene=TDRD5/NM_001199091.1/0;CC=c.-106A>C;VC=5UTR;Gene=TDRD5/NM_001199085.1/0;CC=c.-14-92A>C;VC=Intron;Gene=TDRD5/NM_173533.3/0;CC=c.-14-92A>C;VC=Intron;Gene=TDRD5/NM_001199089.1/1;CC=c.-14-92A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:620:70.99:70.99:0.00:1.00:1.00:0.00:60:94.4:0:0:56:95:24:NM_001199085.1(TDRD5) c.-14-92A>C,NM_001199085.1(TDRD5) c.-14-92A>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 179561673 rs574753334 G GT 9 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=1;Gene=TDRD5/NM_001199091.1/0;CC=c.-69dupT;VC=5UTR;Gene=TDRD5/NM_001199085.1/0;CC=c.-14-55dupT;VC=Intron;Gene=TDRD5/NM_173533.3/0;CC=c.-14-55dupT;VC=Intron;Gene=TDRD5/NM_001199089.1/1;CC=c.-14-55dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:G,GT:31:30:4:0:27,4:846,120:0.00,8.74:0.00,8.80:0.00,-0.06:0.00,0.64:0.00,0.95:0.00,0.42:60,60:67.3,124.8:0,0:0,0:48,48:96,98:36,14:-,NM_001199085.1(TDRD5) c.-14-64_-14-63insT:-,NOT_FOUND:-,NOT_FOUND 1 179561683 rs4652419 A T 118 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.2252,T/0.7748;Gene=TDRD5/NM_001199091.1/0;CC=c.-68A>T;VC=5UTR;Gene=TDRD5/NM_001199085.1/0;CC=c.-14-54A>T;VC=Intron;Gene=TDRD5/NM_173533.3/0;CC=c.-14-54A>T;VC=Intron;Gene=TDRD5/NM_001199089.1/1;CC=c.-14-54A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:32:0:0:33:1024:118.06:110.55:7.50:1.00:1.00:1.00:60:67.8:0:0:56:94:38:NM_001199085.1(TDRD5) c.-14-54A>T,NM_001199085.1(TDRD5) c.-14-54A>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 179561983 . G . . NT END=179562594;NT GT ./. 1 179562143 rs4652420 G A 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.2644,A/0.7356;PC=0.009;Gene=TDRD5/NM_001199091.1/0;CC=c.232+161G>A;VC=Intron;Gene=TDRD5/NM_001199085.1/0;CC=c.232+161G>A;VC=Intron;Gene=TDRD5/NM_173533.3/0;CC=c.232+161G>A;VC=Intron;Gene=TDRD5/NM_001199089.1/1;CC=c.232+161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:329:37.67:0.00:37.67:1.00:0.00:1.00:60:45.7:0:0:75:75:31:NM_001199085.1(TDRD5) c.232+161G>A,NM_001199085.1(TDRD5) c.232+161G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 179563003 . G . . NT END=179564762;NT GT ./. 1 179564954 . G . . NT END=179587733;NT GT ./. 1 179587818 . G . . NT END=179590169;NT GT ./. 1 179590029 rs564994087 C CA 56 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=481;PC=0.007;Gene=TDRD5/NM_001199091.1/0;CC=c.916-132dupA;VC=Intron;Gene=TDRD5/NM_001199085.1/0;CC=c.916-132dupA;VC=Intron;Gene=TDRD5/NM_173533.3/0;CC=c.916-132dupA;VC=Intron;Gene=TDRD5/NM_001199089.1/1;CC=c.916-132dupA;VC=Intron;Gene=TDRD5/NM_001199092.1/0;CC=c.-420-132dupA;VC=Intron;DM=TDRD5/OST-HTH;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:CA:15:15:15:0:15:488:55.95:55.95:0.00:1.00:1.00:0.00:60:5.9:0:0:40:111:31:NM_001199085.1(TDRD5) c.916-141_916-140insA,NM_001199085.1(TDRD5) c.916-141_916-140insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 179590227 . G . . NT END=179599901;NT GT ./. 1 179600056 . G . . NT END=179603591;NT GT ./. 1 179603765 . G . . NT END=179604801;NT GT ./. 1 179604864 rs4628468 C T 297 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.2031,T/0.7969;PC=1.000;Gene=TDRD5/NM_001199091.1/0;CC=c.1362C>T;ProtCh=p.D454=;VC=Silent;Gene=TDRD5/NM_001199085.1/0;CC=c.1362C>T;ProtCh=p.D454=;VC=Silent;Gene=TDRD5/NM_173533.3/0;CC=c.1362C>T;ProtCh=p.D454=;VC=Silent;Gene=TDRD5/NM_001199089.1/1;CC=c.1362C>T;ProtCh=p.D454=;VC=Silent;Gene=TDRD5/NM_001199092.1/0;CC=c.27C>T;ProtCh=p.D9=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:81:59:0:0:81:2589:297.35:167.04:130.31:1.00:1.00:1.00:60:39.8:0:0:70:77:37:NM_001199085.1(TDRD5) c.1362C>T (p.(=)),NM_001199085.1(TDRD5) c.1362C>T (p.(=)):0.79,0.79:0.746425,0.746425 1 179605023 . G . . NT END=179608973;NT GT ./. 1 179609187 . G . . NT END=179609513;NT GT ./. 1 179609581 . G . . NT END=179620001;NT GT ./. 1 179609589 rs16854429 G T 163 nt VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7798,T/0.2202;PC=0.036;Gene=TDRD5/NM_001199091.1/0;CC=c.1800+9G>T;VC=Intron;Gene=TDRD5/NM_001199085.1/0;CC=c.1800+9G>T;VC=Intron;Gene=TDRD5/NM_173533.3/0;CC=c.1800+9G>T;VC=Intron;Gene=TDRD5/NM_001199089.1/1;CC=c.1800+9G>T;VC=Intron;Gene=TDRD5/NM_001199092.1/0;CC=c.465+9G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A,T:44:18:0:0:1,43:8,1430:0.13,163.07:0.13,44.32:0.00,118.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:62.0,41.3:0,0:0,0:109,83:41,67:0,28:NM_001199085.1(TDRD5) c.1800+9G>T,NM_001199085.1(TDRD5) c.1800+9G>T:0.22,0.22:0.168538,0.168538 1 179620203 . G . . NT END=179621173;NT GT ./. 1 179621333 . G . . NT END=179623335;NT GT ./. 1 179623498 . G . . NT END=179631238;NT GT ./. 1 179631422 . G . . NT END=179632482;NT GT ./. 1 179632627 . G . . NT END=179638328;NT GT ./. 1 179638540 . G . . NT END=179659830;NT GT ./. 1 179660079 . G . . NT END=179782232;NT GT ./. 1 179692658 rs36047949 TAC T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.7348,T/0.2652;NP=72;PC=0.002;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:TAC,T:3:3:0:3:1,2:36,87:0.00,6.75:0.00,3.33:0.00,3.43:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,27.5:0,1:0,0:136,98:15,53:0,0:-,XR_108315.2(LOC100506206) n.-6653_-6652delAC:-,NOT_FOUND:-,NOT_FOUND 1 179761418 rs3075152 T TTG 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=16;NP=3;PC=0.001;Gene=FAM163A/NM_173509.2/1;CC=c.-135-15471_-135-15470insTG;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:T,TTG:5:4:4:0:1,4:28,122:0.00,13.02:0.00,10.49:0.00,2.53:0.00,0.96:0.00,1.00:0.00,0.97:60,60:0.0,34.0:0,0:0,0:2,43:149,101:0,13:-,NM_173509.2(FAM163A) c.-135-15515_-135-15514insTG:-,NOT_FOUND:-,NOT_FOUND 1 179782326 . G . . NT END=179782913;NT GT ./. 1 179783325 . A . . NT END=179815205;NT GT ./. 1 179786753 rs398049810 TTG T 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9599,TGC/0.04014,TTG/.;NP=224;PC=0.021;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:4:3:112:8.85:5.45:3.40:0.85:0.99:0.99:60:5.3:1:0:77:73:36:chr1 g.179786754_179786755delTG (intergenic),chr1 g.179786754_179786755delTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 179815964 . C . . NT END=179816669;NT GT ./. 1 179816772 . C . . NT END=179819979;NT GT ./. 1 179820499 . C . . NT END=179821766;NT GT ./. 1 179821947 . C . . NT END=179828164;NT GT ./. 1 179828983 . t . . NT END=179829248;NT GT ./. 1 179829361 . t . . NT END=179829615;NT GT ./. 1 179831803 . c . . NT END=179832362;NT GT ./. 1 179832358 . CA C 32 idl,rn VT=DEL;SST=Single;DP=60;NP=1;PC=0.156;Gene=TOR1AIP2/NM_001199260.1/1;CC=c.-147+2212delT;VC=Intron;Gene=TOR1AIP2/NM_145034.4/0;CC=c.-146-10413delT;VC=Intron;Gene=TOR1AIP2/NM_022347.3/0;CC=c.*1557delT;VC=3UTR;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:53:59:7:21:35,6,12:1159,225,565:0.00,14.37,31.95:0.00,14.39,28.53:0.00,-0.02,3.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.53:60,60,60:29.9,70.8,44.3:0,1,6:0,0,0:73,45,46:77,106,105:51,25,27:-,NM_001199260.1(TOR1AIP2) c.-147+2212delT:-,NOT_FOUND:-,NOT_FOUND 1 179832812 . CA C 21 idl,rn VT=DEL;SST=Single;DP=60;PC=0.002;Gene=TOR1AIP2/NM_001199260.1/1;CC=c.-147+1758delT;VC=Intron;Gene=TOR1AIP2/NM_145034.4/0;CC=c.-146-10867delT;VC=Intron;Gene=TOR1AIP2/NM_022347.3/0;CC=c.*1103delT;VC=3UTR;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,CA,I,C:56:53:8:22:5,35,8,8:123,1119,254,389:8.06,0.00,20.05,20.65:1.43,0.00,20.29,18.04:6.63,0.00,-0.25,2.61:0.00,0.00,0.00,0.95:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.72:60,60,60,60:72.8,37.5,30.9,21.4:1,0,0,4:0,0,0,0:55,90,25,20:71,58,125,125:6,49,18,14:-,NM_001199260.1(TOR1AIP2) c.-147+1758delT:-,NOT_FOUND:-,NOT_FOUND 1 179834312 . C . . NT END=179851637;NT GT ./. 1 179852074 rs1281378 T C 498 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.3912,C/0.6088,G/.;PC=0.014;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.437T>C;ProtCh=p.M146T;VC=Missense;Gene=TOR1AIP1/NM_015602.3/0;CC=c.437T>C;ProtCh=p.M146T;VC=Missense;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:144:66:0:0:142,1,1:4330,14,12:497.73,0.17,0.00:155.77,0.00,0.00:341.95,0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.3,119.0,90.0:0,0,0:0,0,0:101,45,83:45,106,10:21,0,0:NM_001267578.1(TOR1AIP1) c.437T>C (p.Met146Thr),NM_001267578.1(TOR1AIP1) c.437T>C (p.Met146Thr):0.61,0.61:0.569205,0.569205 1 179852113 . G . . NT END=179853826;NT GT ./. 1 179852165 rs138905212 G A 70 nt VT=SNV;PN=G;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.991,A/0.008986,C/.;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.475+53G>A;VC=Intron;Gene=TOR1AIP1/NM_015602.3/0;CC=c.475+53G>A;VC=Intron;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:4:0:0:25,24:728,769:69.96,0.00:4.75,0.00:65.22,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:59.2,39.4:0,0:0,0:108,124:42,25:25,12:NM_001267578.1(TOR1AIP1) c.475+53G>A,-:0.01,-:NOT_FOUND,- 1 179853905 . G . . NT END=179858444;NT GT ./. 1 179858333 rs1300068 C T 56 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3948,T/0.6052;PC=0.001;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.554-112C>T;VC=Intron;Gene=TOR1AIP1/NM_015602.3/0;CC=c.554-115C>T;VC=Intron;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:16:0:0:16:481:55.72:55.72:0.00:1.00:1.00:0.00:60:45.3:0:0:49:102:27:NM_001267578.1(TOR1AIP1) c.554-112C>T,NM_001267578.1(TOR1AIP1) c.554-112C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 179858444 rs2245425 G A 128 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3646,A/0.6354;PC=0.993;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.554-1G>A;VC=SpliceSiteCDS;Gene=TOR1AIP1/NM_015602.3/0;CC=c.554-4G>A;VC=Intron;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:25:0:0:34:1121:128.31:60.68:67.63:1.00:1.00:1.00:60:39.4:0:0:50:86:26:NM_001267578.1(TOR1AIP1) c.554-1G>A,NM_001267578.1(TOR1AIP1) c.554-1G>A:0.63,0.63:0.583064,0.583064 1 179858505 . G . . NT END=179869260;NT GT ./. 1 179869303 . G . . NT END=179870436;NT GT ./. 1 179870524 . G . . NT END=179873100;NT GT ./. 1 179873158 . G . . NT END=179876957;NT GT ./. 1 179876900 rs1281380 A T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9259,T/0.07408;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.800-58A>T;VC=Intron;Gene=TOR1AIP1/NM_015602.3/0;CC=c.797-58A>T;VC=Intron;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:19:19:0:0:11,8:344,216:0.00,19.77:0.00,18.32:0.00,1.44:0.00,0.99:0.00,0.99:0.00,0.89:60,60:7.3,46.9:0,0:0,0:82,63:69,70:16,35:-,NM_001267578.1(TOR1AIP1) c.800-58A>T:-,0.1:-,0.162943 1 179876988 rs609521 C G 67 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4159,A/.,G/0.5841;PC=0.003;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.830C>G;ProtCh=p.P277R;VC=Missense;Gene=TOR1AIP1/NM_015602.3/0;CC=c.827C>G;ProtCh=p.P276R;VC=Missense;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G,T:22:14:0:0:21,1:574,11:66.74,0.40:28.56,0.00:38.18,0.40:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,61.0:0,0:0,0:77,28:67,122:16,0:NM_001267578.1(TOR1AIP1) c.830C>G (p.Pro277Arg),NM_001267578.1(TOR1AIP1) c.830C>G (p.Pro277Arg):0.59,0.59:0.540212,0.540212 1 179877000 . G . . NT END=179877739;NT GT ./. 1 179877048 rs71118416 C CTT 9 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;PC=0.003;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.841+70_841+71insTT;VC=Intron;Gene=TOR1AIP1/NM_015602.3/0;CC=c.838+70_838+71insTT;VC=Intron;DM=TOR1AIP1/LAP1C;DM=TOR1AIP1/LAP1C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,CTT,D:19:9:5:1:14,4,1:407,142,34:0.00,8.96,2.27:0.00,-0.63,-0.14:0.00,9.59,2.41:0.00,0.71,0.00:0.00,0.82,0.00:0.00,0.94,0.00:60,60,60:37.5,27.0,30.0:0,1,0:0,0,0:136,67,66:9,84,85:8,18,0:-,NM_001267578.1(TOR1AIP1) c.841+49_841+50insTT:-,NOT_FOUND:-,NOT_FOUND 1 179877809 . G . . NT END=179883132;NT GT ./. 1 179883190 . G . . NT END=179886586;NT GT ./. 1 179887125 rs627897 G A 498 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.08147,A/0.9185;PC=0.746;Gene=TOR1AIP1/NM_001267578.1/1;CC=c.1506G>A;ProtCh=p.A502=;VC=Silent;Gene=TOR1AIP1/NM_015602.3/0;CC=c.1503G>A;ProtCh=p.A501=;VC=Silent;DM=TOR1AIP1/LAP1C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:131:62:0:0:131:4355:497.86:193.31:304.55:1.00:1.00:1.00:60:41.0:0:0:77:74:31:NM_001267578.1(TOR1AIP1) c.1506G>A (p.(=)),NM_001267578.1(TOR1AIP1) c.1506G>A (p.(=)):0.92,0.92:0.927495,0.927495 1 179887375 . G . . NT END=179924238;NT GT ./. 1 179924279 . T . . NT END=179955303;NT GT ./. 1 179955391 . T . . NT END=179956374;NT GT ./. 1 179956423 . T . . NT END=179959641;NT GT ./. 1 179956622 rs2477110 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4365,G/0.5635;Gene=CEP350/NM_014810.4/1;CC=c.120+201A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:111:12.95:0.00:12.95:1.00:0.00:1.00:60:33.8:0:0:86:56:21:NM_014810.4(CEP350) c.120+201A>G,NM_014810.4(CEP350) c.120+201A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 179959758 . T . . NT END=179961196;NT GT ./. 1 179960842 rs2477108 G GTGTGTGTA 12 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=2;NP=58;PC=0.005;Gene=CEP350/NM_014810.4/1;CC=c.236-354_236-353insGTGTGTAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GTGTGTGTA:5:4:5:0:1,4:34,149:0.00,12.43:0.00,6.26:0.00,6.16:0.00,0.93:0.00,0.99:0.00,0.99:23,70:0.0,57.8:0,1:0,0:43,68:22,44:0,46:-,NM_014810.4(CEP350) c.236-355_236-354insTGTGTGTA:-,NOT_FOUND:-,NOT_FOUND 1 179961358 . T . . NT END=179965687;NT GT ./. 1 179966312 . T . . NT END=179972308;NT GT ./. 1 179972424 . T . . NT END=179975588;NT GT ./. 1 179975704 . T . . NT END=179981063;NT GT ./. 1 179981212 . T . . NT END=179982981;NT GT ./. 1 179983642 . T . . NT END=179984983;NT GT ./. 1 179983665 rs2501607 G A 213 nt VT=SNV;PN=G;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.4353,A/0.5647;PC=0.023;Gene=CEP350/NM_014810.4/1;CC=c.2052+25G>A;VC=Intron;DM=CEP350/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A,C:61:18:0:0:60,1:1845,11:212.53,0.19:46.59,0.00:165.94,0.19:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,99.0:0,0:0,0:104,137:44,14:25,0:NM_014810.4(CEP350) c.2052+25G>A,NM_014810.4(CEP350) c.2052+25G>A:0.59,0.59:0.541589,0.541589 1 179985107 . T . . NT END=179989083;NT GT ./. 1 179989742 rs2477120 G C 479 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=G/0.4357,C/0.5643;PC=1.000;Gene=CEP350/NM_014810.4/1;CC=c.2833G>C;ProtCh=p.E945Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:128:77:0:0:1,127:8,4192:0.05,479.18:0.00,237.62:0.05,241.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:103.0,42.1:0,0:0,0:81,73:70,76:0,33:NM_014810.4(CEP350) c.2833G>C (p.Glu945Gln),NM_014810.4(CEP350) c.2833G>C (p.Glu945Gln):0.59,0.59:0.538136,0.538136 1 179990146 . T . . NT END=179991832;NT GT ./. 1 179991688 rs2477116 A T 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4353,T/0.5647;Gene=CEP350/NM_014810.4/1;CC=c.3236-145A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:13:0:0:13:356:41.68:41.68:0.00:1.00:1.00:0.00:60:49.0:0:0:76:75:24:NM_014810.4(CEP350) c.3236-145A>T,NM_014810.4(CEP350) c.3236-145A>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 179991985 . T . . NT END=179993553;NT GT ./. 1 179992076 rs2477117 A G 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.1985,G/0.8015;PC=0.049;Gene=CEP350/NM_014810.4/1;CC=c.3386+93A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:2:0:0:21:685:78.48:3.83:74.66:1.00:1.00:1.00:60:40.2:0:0:101:49:29:NM_014810.4(CEP350) c.3386+93A>G,NM_014810.4(CEP350) c.3386+93A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 179993719 . T . . NT END=180000454;NT GT ./. 1 179993793 rs4622030 T C 136 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1508,C/0.8492,G/.;PC=0.005;Gene=CEP350/NM_014810.4/1;CC=c.3550+76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:C,G:40:13:0:0:39,1:1178,23:135.95,1.20:28.54,1.20:107.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,82.0:0,0:0,0:118,139:29,12:18,0:NM_014810.4(CEP350) c.3550+76T>C,NM_014810.4(CEP350) c.3550+76T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 180000631 . T . . NT END=180002996;NT GT ./. 1 180003219 . T . . NT END=180006060;NT GT ./. 1 180006226 . T . . NT END=180010272;NT GT ./. 1 180010385 . T . . NT END=180010796;NT GT ./. 1 180010702 rs4652461 T C 87 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.1999,C/0.8001;Gene=CEP350/NM_014810.4/1;CC=c.4222-95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:23:0:0:24:759:87.23:78.22:9.01:1.00:1.00:1.00:60:40.0:0:0:46:103:23:NM_014810.4(CEP350) c.4222-95T>C,NM_014810.4(CEP350) c.4222-95T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 180010939 . T . . NT END=180012190;NT GT ./. 1 180012329 . T . . NT END=180013185;NT GT ./. 1 180013310 . T . . NT END=180017670;NT GT ./. 1 180013515 . C T 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;Gene=CEP350/NM_014810.4/1;CC=c.4622+207C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T:9:0:0:0:1,8:35,260:0.00,28.45:0.00,0.00:0.00,28.45:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,32.5:0,0:0,0:125,103:25,47:0,22:-,NM_014810.4(CEP350) c.4622+207C>T:-,NOT_FOUND:-,NOT_FOUND 1 180017842 . T . . NT END=180022104;NT GT ./. 1 180022303 . T . . NT END=180022884;NT GT ./. 1 180022343 rs9425854 T G 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4339,G/0.5661;Gene=CEP350/NM_014810.4/1;CC=c.4989+42T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G,T:23:8:0:0:22,1:662,11:75.04,0.00:20.03,0.00:55.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,168.0:0,0:0,0:86,124:65,19:44,0:NM_014810.4(CEP350) c.4989+42T>G,NM_014810.4(CEP350) c.4989+42T>G:0.59,0.59:0.539302,0.539302 1 180022760 rs2040083 A T 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=3166;PC=0.017;Gene=CEP350/NM_014810.4/1;CC=c.4990-125A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:293:34.05:34.05:0.00:1.00:1.00:0.00:60:50.9:0:0:40:110:18:NM_014810.4(CEP350) c.4990-125A>T,NM_014810.4(CEP350) c.4990-125A>T:1,1:NOT_FOUND,NOT_FOUND 1 180023071 . T . . NT END=180023549;NT GT ./. 1 180023639 . T . . NT END=180031354;NT GT ./. 1 180031503 . T . . NT END=180034249;NT GT ./. 1 180034409 . T . . NT END=180042920;NT GT ./. 1 180034602 rs6659911 G A 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.3013,A/0.6987;Gene=CEP350/NM_014810.4/1;CC=c.5567+195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:304:35.17:0.00:35.17:1.00:0.00:1.00:60:36.5:0:0:116:34:22:NM_014810.4(CEP350) c.5567+195G>A,NM_014810.4(CEP350) c.5567+195G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 180043044 . G . . NT END=180044156;NT GT ./. 1 180044358 . T . . NT END=180047597;NT GT ./. 1 180044570 rs75141274 A AAC 17 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4129,AAC/0.5871,ACA/.;DB;DBA=NA;PAF=NA;NP=114;PC=0.035;Gene=CEP350/NM_014810.4/1;CC=c.5767+215_5767+216insCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,AAC:6:0:5:0:1,5:33,153:0.00,16.51:0.00,0.00:0.00,16.51:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,0.0:0,0:0,0:143,80:2,71:0,32:-,NM_014810.4(CEP350) c.5767+214_5767+215insAC:-,NOT_FOUND:-,NOT_FOUND 1 180047811 . T . . NT END=180049624;NT GT ./. 1 180049798 . T . . NT END=180053152;NT GT ./. 1 180053315 . T . . NT END=180056712;NT GT ./. 1 180056854 . T . . NT END=180059848;NT GT ./. 1 180059692 rs10798728 A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=CEP350/NM_014810.4/1;CC=c.6426-157A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G,I:11:11:1:0:7,3,1:227,103,31:0.00,9.07,2.25:0.00,9.07,2.25:0.00,0.00,0.00:0.00,0.60,0.00:0.00,0.60,0.00:0.00,0.00,0.00:60,60,40:8.0,76.3,0.0:3,0,0:0,0,0:83,19,110:65,124,40:33,3,0:-,NM_014810.4(CEP350) c.6426-157A>G:-,NOT_FOUND:-,NOT_FOUND 1 180059736 rs67893475 GACATACCT G 70 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=GACATACCT/0.4115,G/0.5885;DB;DBA=NA;PAF=GACATACCT/0.4115,G/0.5885;NP=683;Gene=CEP350/NM_014810.4/1;CC=c.6426-110_6426-103delATACCTAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:20:0:20:20:602:69.72:69.72:0.00:1.00:1.00:0.00:60:37.2:0:0:29:119:10:NM_014810.4(CEP350) c.6426-112_6426-105delACATACCT,NM_014810.4(CEP350) c.6426-112_6426-105delACATACCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 180059811 rs10798729 A C 192 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.4337,C/0.5663;Gene=CEP350/NM_014810.4/1;CC=c.6426-38A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:44:0:0:52:1672:191.87:128.49:63.38:1.00:1.00:1.00:60:37.4:0:0:44:99:28:NM_014810.4(CEP350) c.6426-38A>C,NM_014810.4(CEP350) c.6426-38A>C:0.59,0.59:0.562903,0.562903 1 180059933 . T . . NT END=180061748;NT GT ./. 1 180063753 . T . . NT END=180064657;NT GT ./. 1 180064367 rs3831085 T TAGAC 26 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3019,TAGAC/0.6981;DB;DBA=NA;PAF=T/0.3019,TAGAC/0.6981;NP=51;PC=0.058;Gene=CEP350/NM_014810.4/1;CC=c.8512-288_8512-285dupACAG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:TAGAC:7:7:7:0:7:224:25.74:25.74:0.00:1.00:1.00:0.00:60:6.0:0:0:76:74:22:NM_014810.4(CEP350) c.8512-291_8512-290insAGAC,NM_014810.4(CEP350) c.8512-291_8512-290insAGAC:0.7,0.7:NOT_FOUND,NOT_FOUND 1 180065067 . T . . NT END=180065172;NT GT ./. 1 180065321 . T . . NT END=180067997;NT GT ./. 1 180068122 . T . . NT END=180080131;NT GT ./. 1 180080115 rs3767202 T G 176 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.4485,G/0.5515;PC=0.006;Gene=CEP350/NM_014810.4/1;CC=c.9190-17T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:G:47:45:0:0:47:1541:176.47:147.19:29.28:1.00:1.00:1.00:60:38.8:0:0:62:87:33:NM_014810.4(CEP350) c.9190-17T>G,NM_014810.4(CEP350) c.9190-17T>G:0.58,0.58:0.523066,0.523066 1 180080298 . A . . NT END=180124042;NT GT ./. 1 180089743 . AGTGTGTGT A 13 nt VT=DEL;SST=Single;DP=9;NP=12;PC=0.979;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:AGTGTGTGT,A:8:6:0:6:3,5:80,155:0.00,13.25:0.00,4.75:0.00,8.50:0.00,0.96:0.00,0.99:0.00,0.99:60,70:54.3,49.0:0,1:0,0:60,75:91,71:22,23:-,chr1 g.180089744_180089751delGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 180123812 rs7531169 A G 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.406,G/0.594 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:308:35.95:35.95:0.00:1.00:1.00:0.00:60:69.7:0:0:25:126:22:NM_002826.4(QSOX1) c.-75-u156A>G,NM_002826.4(QSOX1) c.-75-u156A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 180123815 rs7531170 A G 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.01677,G/0.9832 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:348:40.51:40.51:0.00:1.00:1.00:0.00:60:66.3:0:0:25:125:22:NM_002826.4(QSOX1) c.-75-u153A>G,NM_002826.4(QSOX1) c.-75-u153A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 180124308 . G . . NT END=180135625;NT GT ./. 1 180124379 rs35481032 T C 76 nt VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.5138,C/0.4862;Gene=QSOX1/NM_001004128.2/1;CC=c.265+72T>C;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.265+72T>C;VC=Intron;DM=QSOX1/Thioredoxin;DM=QSOX1/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:7:0:0:26,23:779,707:75.54,0.00:4.22,0.00:71.32,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:53.2,15.4:0,0:0,0:119,113:31,38:21,25:NM_002826.4(QSOX1) c.265+72T>C,-:0.45,-:NOT_FOUND,- 1 180124450 rs3820312 A C 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5136,C/0.4864;Gene=QSOX1/NM_001004128.2/1;CC=c.265+143A>C;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.265+143A>C;VC=Intron;DM=QSOX1/Thioredoxin;DM=QSOX1/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:0:0:0:13,9:371,268:0.00,24.63:0.00,0.00:0.00,24.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.3,76.3:0,0:0,0:110,123:41,28:24,15:-,NM_002826.4(QSOX1) c.265+143A>C:-,0.45:-,NOT_FOUND 1 180135727 . G . . NT END=180144455;NT GT ./. 1 180144291 rs71118443 C CA 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.486,CA/0.514;DB;DBA=NA;PAF=NA;NP=509;Gene=QSOX1/NM_001004128.2/1;CC=c.367-152_367-151insA;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.367-152_367-151insA;VC=Intron;DM=QSOX1/Thioredoxin;DM=QSOX1/Thioredoxin;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CA:5:5:4:0:1,4:35,118:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,18.5:0,0:0,0:58,11:93,139:0,6:-,NM_002826.4(QSOX1) c.367-165_367-164insA:-,NOT_FOUND:-,NOT_FOUND 1 180144502 . G . . NT END=180145065;NT GT ./. 1 180145088 rs2298206 A G 211 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.1144,G/0.8856;Gene=QSOX1/NM_001004128.2/1;CC=c.435A>G;ProtCh=p.T145=;VC=Silent;Gene=QSOX1/NM_002826.4/0;CC=c.435A>G;ProtCh=p.T145=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:C,G:57:46:0:0:1,56:30,1852:1.74,211.25:0.00,115.64:1.74,95.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.0,39.9:0,0:0,0:6,69:144,74:0,29:NM_002826.4(QSOX1) c.435A>G (p.(=)),NM_002826.4(QSOX1) c.435A>G (p.(=)):0.89,0.89:0.91727,0.91727 1 180145169 . G . . NT END=180147928;NT GT ./. 1 180148020 . G . . NT END=180151308;NT GT ./. 1 180151455 . G . . NT END=180153050;NT GT ./. 1 180151666 rs2242110 A T 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5385,T/0.4615;Gene=QSOX1/NM_001004128.2/1;CC=c.752+212A>T;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.752+212A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:200:23.31:0.00:23.31:1.00:0.00:1.00:60:63.9:0:0:95:56:35:NM_002826.4(QSOX1) c.752+212A>T,NM_002826.4(QSOX1) c.752+212A>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 180151709 rs61809061 C T 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9732,T/0.02676;PC=0.004;Gene=QSOX1/NM_001004128.2/1;CC=c.752+255C>T;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.752+255C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,T:5:0:0:0:2,3:72,99:0.00,9.87:0.00,0.00:0.00,9.87:0.00,0.78:0.00,0.00:0.00,0.78:60,60:39.5,96.7:0,0:0,0:39,124:111,25:20,14:-,NM_002826.4(QSOX1) c.752+255C>T:-,0.04:-,NOT_FOUND 1 180153186 . G . . NT END=180155187;NT GT ./. 1 180155318 . G . . NT END=180158686;NT GT ./. 1 180155376 rs2298207 C G 224 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.3287,G/0.6713;Gene=QSOX1/NM_001004128.2/1;CC=c.1017+59C>G;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.1017+59C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:G:59:29:0:0:59:1959:223.89:75.72:148.17:1.00:1.00:1.00:70:40.9:0:0:108:42:23:NM_002826.4(QSOX1) c.1017+59C>G,NM_002826.4(QSOX1) c.1017+59C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 180155382 rs397840181 AG A 192 nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=AG/0.1819,A/0.8181;DB;DBA=NA;PAF=AG/0.1819,A/0.8181;NP=3331;Gene=QSOX1/NM_001004128.2/1;CC=c.1017+67delG;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.1017+67delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:25:0:52:52:1670:191.77:64.47:127.30:1.00:1.00:1.00:60:41.2:0:0:107:44:20:NM_002826.4(QSOX1) c.1017+66delG,NM_002826.4(QSOX1) c.1017+66delG:0.8,0.8:NOT_FOUND,NOT_FOUND 1 180158810 . G . . NT END=180159567;NT GT ./. 1 180159716 . G . . NT END=180163347;NT GT ./. 1 180159797 rs397791999 TC T 92 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=TC/0.3075,T/0.6925;DB;DBA=NA;PAF=TC/0.3075,T/0.6925;NP=3044;PC=0.001;Gene=QSOX1/NM_001004128.2/1;CC=c.1288+85delC;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.1288+85delC;VC=Intron;DM=QSOX1/Evr1_Alr;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G,TC,T:29:10:0:26:1,2,26:23,41,823:1.30,0.00,91.55:1.31,0.00,17.92:-0.02,0.00,73.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.0,38.5,10.9:0,0,0:0,0,0:150,140,104:1,1,47:0,9,32:NM_002826.4(QSOX1) c.1288+83delC,NM_002826.4(QSOX1) c.1288+83delC:0.68,0.68:NOT_FOUND,NOT_FOUND 1 180163528 . G . . NT END=180165396;NT GT ./. 1 180165091 rs3767165 A G 14 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4866,G/0.5134;Gene=QSOX1/NM_001004128.2/1;CC=c.1469-306A>G;VC=Intron;Gene=QSOX1/NM_002826.4/0;CC=c.1469-306A>G;VC=Intron;DM=QSOX1/Evr1_Alr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:32.5:0:0:1:150:1:NM_002826.4(QSOX1) c.1469-306A>G,NM_002826.4(QSOX1) c.1469-306A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 180166477 . A . . NT END=180199664;NT GT ./. 1 180199741 . G . . NT END=180217419;NT GT ./. 1 180217592 . G . . NT END=180235526;NT GT ./. 1 180219483 rs561965552 T TGTGTGTGC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9223,C/0.07768;DB;DBA=NA;PAF=T/0.9433,TGTGTGTGC/0.05671;NP=8;PC=0.002;Gene=LHX4/NM_033343.3/1;CC=c.248+1893_248+1894insTGTGTGCG;VC=Intron;DM=LHX4/LIM;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TGTGTGTGC:3:4:3:0:1,2:32,100:0.00,6.75:0.00,5.11:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.51:60,60:0.0,16.5:0,1:0,0:89,80:61,38:0,0:-,NM_033343.3(LHX4) c.248+1892_248+1893insGTGTGTGC:-,NOT_FOUND:-,NOT_FOUND 1 180233513 rs10561933 AACAC A 11 sb;idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=19;Gene=LHX4/NM_033343.3/1;CC=c.249-1982_249-1979delCACA;VC=Intron;DM=LHX4/LIM;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:6:4:136:10.78:8.99:1.79:0.93:0.99:0.91:60:25.8:2:0:15:117:9:NM_033343.3(LHX4) c.249-2013_249-2010delACAC,NM_033343.3(LHX4) c.249-2013_249-2010delACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 180235730 . G . . NT END=180240514;NT GT ./. 1 180240670 . G . . NT END=180240969;NT GT ./. 1 180240752 rs3845397 C T 126 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.5937,T/0.4063;Gene=LHX4/NM_033343.3/1;CC=c.606+83C>T;VC=Intron;Gene=LHX4-AS1/NR_037642.1/0;VC=NonCoding;DM=LHX4/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:T:38:17:0:0:38:1081:125.91:40.69:85.22:1.00:1.00:1.00:60:39.7:0:0:90:57:42:NR_037642.1(LOC100527964) n.703G>A,NR_037642.1(LOC100527964) n.703G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 180241142 . G . . NT END=180243319;NT GT ./. 1 180243524 rs7536561 A G 564 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.5737,G/0.4263;PC=1.000;Gene=LHX4/NM_033343.3/1;CC=c.983A>G;ProtCh=p.N328S;VC=Missense;Gene=LHX4-AS1/NR_037642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:147:87:0:0:147:4941:564.17:243.14:321.04:1.00:1.00:1.00:60:40.7:0:0:77:69:38:NM_033343.3(LHX4) c.983A>G (p.Asn328Ser),NM_033343.3(LHX4) c.983A>G (p.Asn328Ser):0.45,0.45:0.410657,0.410657 1 180243715 . A . . NT END=180257497;NT GT ./. 1 180257653 . C . . NT END=180283826;NT GT ./. 1 180257692 rs2254465 A C 194 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.04812,C/0.9519,T/.;Gene=ACBD6/NM_032360.3/1;CC=c.695-40T>G;VC=Intron;DM=ACBD6/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:159:C:57:9:0:0:57:1669:193.80:21.57:172.22:1.00:1.00:1.00:60:39.2:0:0:114:34:23:NM_032360.3(ACBD6) c.695-40T>G,NM_032360.3(ACBD6) c.695-40T>G:0.96,0.96:0.947716,0.947716 1 180283659 rs2764433 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04253,C/0.9575;Gene=ACBD6/NM_032360.3/1;CC=c.694+168A>G;VC=Intron;DM=ACBD6/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:124:14.30:14.30:0.00:1.00:1.00:0.00:60:31.0:0:0:89:61:26:NM_032360.3(ACBD6) c.694+168A>G,NM_032360.3(ACBD6) c.694+168A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 180283858 . C . . NT END=180366650;NT GT ./. 1 180366483 rs10798759 G C 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4679,C/0.5321;Gene=ACBD6/NM_032360.3/1;CC=c.663+168C>G;VC=Intron;DM=ACBD6/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:336:38.81:38.81:0.00:1.00:1.00:0.00:60:39.1:0:0:69:81:16:NM_032360.3(ACBD6) c.663+168C>G,NM_032360.3(ACBD6) c.663+168C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 180366741 . C . . NT END=180382500;NT GT ./. 1 180367101 rs10798760 T C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5395,C/0.4605;PC=0.001;Gene=ACBD6/NM_032360.3/1;CC=c.574-361A>G;VC=Intron;DM=ACBD6/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:125:14.41:3.78:10.63:1.00:1.00:1.00:60:33.8:0:0:114:36:25:NM_032360.3(ACBD6) c.574-361A>G,NM_032360.3(ACBD6) c.574-361A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 180382607 . C . . NT END=180399314;NT GT ./. 1 180382782 rs4421553 T A 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5395,A/0.4605;Gene=ACBD6/NM_032360.3/1;CC=c.468-176A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:179:20.76:0.00:20.76:1.00:0.00:1.00:60:41.8:0:0:139:12:6:NM_032360.3(ACBD6) c.468-176A>T,NM_032360.3(ACBD6) c.468-176A>T:0.48,0.48:NOT_FOUND,NOT_FOUND 1 180399398 . C . . NT END=180461403;NT GT ./. 1 180404725 rs115129266 A C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.988,C/0.01198;PC=1.000;Gene=ACBD6/NM_032360.3/1;CC=c.385-5328T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,C:16:11:0:0:12,4:409,135:0.00,11.50:0.00,2.68:0.00,8.83:0.00,0.75:0.00,0.93:0.00,0.95:60,60:4.3,33.8:0,0:0,0:74,47:74,104:18,27:-,NM_032360.3(ACBD6) c.385-5328T>G:-,0.02:-,NOT_FOUND 1 180461501 . C . . NT END=180464595;NT GT ./. 1 180464661 . C . . NT END=180471179;NT GT ./. 1 180471053 rs200762440 AC A 10 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=AC/0.6639,A/0.3361;NP=9;Gene=ACBD6/NM_032360.3/1;CC=c.222+126delG;VC=Intron;DM=ACBD6/ACBP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:AC,A:18:18:0:5:14,4:456,120:0.00,9.77:0.00,9.77:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:64.5,47.0:0,0:0,0:67,34:82,96:31,15:-,NM_032360.3(ACBD6) c.222+126delG:-,0.52:-,NOT_FOUND 1 180471054 rs12723183 C A 53 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8728,A/0.1272;Gene=ACBD6/NM_032360.3/1;CC=c.222+126G>T;VC=Intron;DM=ACBD6/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:5:14:464:53.08:53.08:0.00:1.00:1.00:0.00:60:64.5:0:0:68:81:31:NM_032360.3(ACBD6) c.222+126G>T,NM_032360.3(ACBD6) c.222+126G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 180471402 . G . . NT END=180601337;NT GT ./. 1 180601407 . G . . NT END=180651495;NT GT ./. 1 180651548 . G . . NT END=180756888;NT GT ./. 1 180756991 . G . . NT END=180772523;NT GT ./. 1 180757007 rs372311507 C CT 6 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=24;PC=0.001;Gene=XPR1/NM_001135669.1/0;CC=c.223+27dupT;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.223+27dupT;VC=Intron;DM=XPR1/SPX;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T,CT,D:34:17:3:3:27,1,3,3:853,10,92,87:0.00,-0.10,6.39,5.90:0.00,-0.13,3.07,0.99:0.00,0.03,3.32,4.91:0.00,0.00,0.40,0.00:0.00,0.00,0.68,0.00:0.00,0.00,0.81,0.00:60,60,60,60:13.4,72.0,15.0,11.7:0,0,0,0:0,0,0,0:115,52,102,71:36,99,49,80:16,0,28,8:-,NM_004736.3(XPR1) c.223+17_223+18insT:-,NOT_FOUND:-,NOT_FOUND 1 180757056 rs3761904 A G 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.7326,G/0.2674;PC=0.010;Gene=XPR1/NM_001135669.1/0;CC=c.223+66A>G;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.223+66A>G;VC=Intron;DM=XPR1/SPX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:22:1:0:0:11,1,10:322,10,308:0.00,0.12,29.25:0.00,-0.02,-0.26:0.00,0.14,29.51:0.00,0.00,1.00:0.00,0.00,0.64:0.00,0.00,1.00:60,60,60:12.6,22.0,46.3:0,0,0:0,0,0:107,42,77:44,108,73:28,0,33:-,NM_004736.3(XPR1) c.223+66A>G:-,0.28:-,NOT_FOUND 1 180757117 rs375426524 G GT 44 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3280;PC=0.008;Gene=XPR1/NM_001135669.1/0;CC=c.223+127_223+128insT;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.223+127_223+128insT;VC=Intron;DM=XPR1/SPX;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G,GT:14:0:13:0:1,13:31,397:0.00,44.33:0.00,0.00:0.00,44.33:0.00,1.00:0.00,0.00:0.00,1.00:60,60:45.0,28.2:0,0:0,0:147,81:1,70:0,22:NM_004736.3(XPR1) c.223+127_223+128insT,NM_004736.3(XPR1) c.223+127_223+128insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 180772414 rs3002117 G A 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6755,A/0.3245;Gene=XPR1/NM_001135669.1/0;CC=c.224-110G>A;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.224-110G>A;VC=Intron;DM=XPR1/SPX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:11,11:358,308:34.43,0.00:34.43,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.5,29.2:0,0:0,0:57,85:94,53:37,43:NM_004736.3(XPR1) c.224-110G>A,-:0.32,-:NOT_FOUND,- 1 180772748 . G . . NT END=180775197;NT GT ./. 1 180775348 . G . . NT END=180775609;NT GT ./. 1 180775694 . G . . NT END=180780542;NT GT ./. 1 180780625 . G . . NT END=180793888;NT GT ./. 1 180794080 . G . . NT END=180794300;NT GT ./. 1 180794481 . G . . NT END=180804009;NT GT ./. 1 180794761 rs1980157 C A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6631,A/0.3369;Gene=XPR1/NM_001135669.1/0;CC=c.1134+281C>A;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.1134+281C>A;VC=Intron;DM=XPR1/EXS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,C:6:0:0:0:5,1:135,36:14.64,0.00:0.00,0.00:14.64,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:39.8,0.0:0,0:0,0:84,31:67,119:31,0:NM_004736.3(XPR1) c.1134+281C>A,-:0.34,-:NOT_FOUND,- 1 180803922 rs2271669 T C 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7075,C/0.2925;PC=0.082;Gene=XPR1/NM_001135669.1/0;CC=c.1135-88T>C;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.1135-88T>C;VC=Intron;DM=XPR1/EXS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:38:0:0:20,20:643,626:61.77,0.00:57.11,0.00:4.66,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:51.6,6.5:0,0:0,0:45,38:93,112:23,22:NM_004736.3(XPR1) c.1135-88T>C,-:0.31,-:NOT_FOUND,- 1 180804182 . G . . NT END=180805657;NT GT ./. 1 180805492 rs67209110 CA C 22 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CA/0.6496,C/0.3504;DB;DBA=NA;PAF=CA/0.6496,C/0.3504;NP=83;PC=0.236;Gene=XPR1/NM_001135669.1/0;CC=c.1306+1323delA;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.1307-154delA;VC=Intron;DM=XPR1/EXS;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CA,I,C:11:12:1:8:3,1,7:91,33,243:0.00,2.58,21.56:0.00,2.58,21.56:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:39.7,11.0,47.1:0,0,1:0,0,0:41,122,26:110,29,125:29,0,10:-,NM_004736.3(XPR1) c.1307-165delA:-,NOT_FOUND:-,NOT_FOUND 1 180805853 . G . . NT END=180832843;NT GT ./. 1 180822762 rs143320476 GACAC G 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=47;PC=0.072;Gene=XPR1/NM_001135669.1/0;CC=c.1307-10043_1307-10040delACAC;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.1502-10043_1502-10040delACAC;VC=Intron;DM=XPR1/EXS;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GACAC,G:4:3:0:3:1,3:32,101:0.00,10.55:0.00,5.58:0.00,4.98:0.00,0.85:0.00,0.99:0.00,0.85:27,60:68.0,0.0:0,0:0,0:106,20:39,94:0,3:-,NM_004736.3(XPR1) c.1502-10081_1502-10078delACAC:-,NOT_FOUND:-,NOT_FOUND 1 180833011 . G . . NT END=180842938;NT GT ./. 1 180843079 . G . . NT END=180849211;NT GT ./. 1 180849434 . G . . NT END=180853141;NT GT ./. 1 180849494 rs10914123 T C 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.3756,C/0.6244;Gene=XPR1/NM_001135669.1/0;CC=c.1835+61T>C;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.2030+61T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:9:0:0:24,25:705,787:67.12,0.00:10.02,0.00:57.10,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:39.7,11.3:0,0:0,0:125,65:26,84:17,28:NM_004736.3(XPR1) c.2030+61T>C,-:0.62,-:NOT_FOUND,- 1 180849639 rs4652536 G A 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.04093,A/0.9591;Gene=XPR1/NM_001135669.1/0;CC=c.1835+206G>A;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.2030+206G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:304:35.12:0.00:35.12:1.00:0.00:1.00:60:42.1:0:0:71:79:43:NM_004736.3(XPR1) c.2030+206G>A,NM_004736.3(XPR1) c.2030+206G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 180852843 rs397952448 C CA 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3762,CA/0.6238,CAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3762,CA/0.6238;NP=1;NP=2;NP=95;PC=0.035;Gene=XPR1/NM_001135669.1/0;CC=c.1836-282_1836-281insA;VC=Intron;Gene=XPR1/NM_004736.3/1;CC=c.2031-282_2031-281insA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CA:4:4:3:0:1,3:34,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:26.0,3.7:0,0:0,0:12,15:138,136:0,3:-,NM_004736.3(XPR1) c.2031-299_2031-298insA:-,NOT_FOUND:-,NOT_FOUND 1 180853203 . A . . NT END=180882379;NT GT ./. 1 180882430 . G . . NT END=180885289;NT GT ./. 1 180885430 rs10732273 T C 561 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=T/0.00599,C/0.994;NP=3414;Gene=KIAA1614/NM_020950.1/1;CC=c.191T>C;ProtCh=p.L64P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:157:112:0:0:157:4864:561.02:334.70:226.32:1.00:1.00:1.00:60:39.5:0:0:67:78:36:NM_020950.1(KIAA1614) c.191T>C (p.Leu64Pro),NM_020950.1(KIAA1614) c.191T>C (p.Leu64Pro):1,1:0.996008,0.996008 1 180886237 . G . . NT END=180886986;NT GT ./. 1 180886810 rs3761905 C G 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5829,G/0.4171;PC=0.002;Gene=KIAA1614/NM_020950.1/1;CC=c.998-177C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,G:15:15:0:0:5,10:177,307:0.00,31.28:0.00,31.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:18.2,36.0:0,0:0,0:70,51:74,99:7,26:-,NM_020950.1(KIAA1614) c.998-177C>G:-,0.41:-,NOT_FOUND 1 180887051 . G . . NT END=180897565;NT GT ./. 1 180897521 rs7544551 C T 252 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.07528,T/0.9247;PC=0.998;Gene=KIAA1614/NM_020950.1/1;CC=c.1062-45C>T;VC=Intron;DM=KIAA1614/DUF4685 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:A,G,T:69:59:0:0:1,1,67:18,6,2207:0.56,0.05,251.72:0.00,0.05,181.99:0.56,0.00,69.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.0,79.0,46.6:0,0,0:0,0,0:58,117,52:92,34,96:0,0,33:NM_020950.1(KIAA1614) c.1062-45C>T,NM_020950.1(KIAA1614) c.1062-45C>T:0.94,0.94:0.926614,0.926614 1 180897710 . G . . NT END=180904250;NT GT ./. 1 180897792 rs575718828 ATGC A 136 nt VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=ATGC/0.3974,A/0.6026;DB;DBA=NA;PAF=ATGC/0.3974,A/0.6026;NP=993;Gene=KIAA1614/NM_020950.1/1;CC=c.1205+94_1205+96delGCT;VC=Intron;DM=KIAA1614/DUF4685;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATGC,A:60:15:0:41:19,41:599,1323:0.00,135.62:0.00,16.26:0.00,119.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,12.1:0,0:0,0:138,109:11,42:2,17:-,NM_020950.1(KIAA1614) c.1205+84_1205+86delTGC:-,0.58:-,NOT_FOUND 1 180905352 rs3795505 C T 416 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.6675,T/0.3325;Gene=KIAA1614/NM_020950.1/1;CC=c.2307C>T;ProtCh=p.S769=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:114:63:0:0:114:3618:416.04:169.65:246.39:1.00:1.00:1.00:60:53.5:0:0:67:83:38:NM_020950.1(KIAA1614) c.2307C>T (p.(=)),NM_020950.1(KIAA1614) c.2307C>T (p.(=)):0.33,0.33:0.337967,0.337967 1 180905448 rs3795504 G T 489 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.5964,T/0.4036;Gene=KIAA1614/NM_020950.1/1;CC=c.2403G>T;ProtCh=p.L801F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:134:86:0:0:134:4251:488.79:239.89:248.90:1.00:1.00:1.00:60:52.7:0:0:75:71:43:NM_020950.1(KIAA1614) c.2403G>T (p.Leu801Phe),NM_020950.1(KIAA1614) c.2403G>T (p.Leu801Phe):0.39,0.39:0.417398,0.417398 1 180905807 . G . . NT END=180907690;NT GT ./. 1 180907848 . G . . NT END=180910180;NT GT ./. 1 180910422 . G . . NT END=180913524;NT GT ./. 1 180913597 rs2331995 A G 338 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.003594,G/0.9964;NP=3441;PC=0.929;Gene=KIAA1614/NM_020950.1/1;CC=c.3232A>G;ProtCh=p.N1078D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:90:66:0:0:90:2955:338.32:169.57:168.75:1.00:1.00:1.00:60:40.8:0:0:59:87:30:NM_020950.1(KIAA1614) c.3232A>G (p.Asn1078Asp),NM_020950.1(KIAA1614) c.3232A>G (p.Asn1078Asp):1,1:0.996248,0.996248 1 180913653 . G . . NT END=180914438;NT GT ./. 1 180914107 rs34477324 AG A 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AG/0.6048,A/0.3952;NP=7;Gene=KIAA1614/NM_020950.1/1;CC=c.3288-329delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:4:4:106:12.50:12.50:0.00:1.00:1.00:0.00:60:37.8:0:0:65:84:27:NM_020950.1(KIAA1614) c.3288-331delG,NM_020950.1(KIAA1614) c.3288-331delG:0.39,0.39:NOT_FOUND,NOT_FOUND 1 180914304 rs944235 C T 57 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.02256,T/0.9774;Gene=KIAA1614/NM_020950.1/1;CC=c.3288-135C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:17:0:0:17:494:57.49:55.65:1.84:1.00:1.00:1.00:60:48.4:0:0:42:109:27:NM_020950.1(KIAA1614) c.3288-135C>T,NM_020950.1(KIAA1614) c.3288-135C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 180914966 rs12023606 C T 248 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.8458,T/0.1542;Gene=KIAA1614/NM_020950.1/1;CC=c.*242C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:23:0:0:67:2166:248.49:54.45:194.04:1.00:1.00:1.00:60:42.4:0:0:96:53:33:NM_020950.1(KIAA1614) c.*242C>T,NM_020950.1(KIAA1614) c.*242C>T:0.18,0.18:NOT_FOUND,NOT_FOUND 1 180914981 . c . . NT END=180919475;NT GT ./. 1 180919151 rs2297184 T C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.654,C/0.346 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:C,T:4:4:0:0:3,1:103,18:10.76,0.00:10.76,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:46.0,131.0:0,0:0,0:26,84:124,67:16,0:chr1 g.180919150T>C (intergenic),-:0.36,-:NOT_FOUND,- 1 180919670 . C . . NT END=180945705;NT GT ./. 1 180933498 rs4652543 C T 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4794,T/0.5206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:24:0:0:25:822:94.09:90.11:3.98:1.00:1.00:1.00:60:51.4:0:0:40:110:29:chr1 g.180933497C>T (intergenic),chr1 g.180933497C>T (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 1 180933602 rs182484466 C T 70 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.9976,T/0.002396;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:56:48:0:0:30,1,25:979,13,745:0.00,0.07,69.90:0.00,0.14,48.06:0.00,-0.08,21.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.1,181.0,55.7:0,0,0:0,0,0:50,144,71:87,5,80:36,0,30:-,chr1 g.180933601C>T (intergenic):-,0.0018:-,NOT_FOUND 1 180934047 rs12022368 T C 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3007,C/0.6993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:0:0:0:12:378:43.52:0.00:43.52:1.00:0.00:1.00:60:35.8:0:0:96:54:17:chr1 g.180934046T>C (intergenic),chr1 g.180934046T>C (intergenic):0.7,0.7:NOT_FOUND,NOT_FOUND 1 180934761 rs567738448 CGT C 136 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=CGT/0.1386,C/0.8614;DB;DBA=NA;PAF=CGT/0.1386,C/0.8614;DB;DBA=NA;PAF=CGT/0.1386,C/0.8614;NP=3249;PC=0.020;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:31:0:38:38:1177:135.77:87.79:47.98:1.00:1.00:1.00:68:12.6:0:0:66:84:20:chr1 g.180934762_180934763delGT (intergenic),chr1 g.180934762_180934763delGT (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 1 180934977 rs4652544 C T 130 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.1386,T/0.8614;PC=0.089 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:20:0:0:36:1128:129.94:63.61:66.33:1.00:1.00:1.00:60:39.9:0:0:84:67:42:chr1 g.180934976C>T (intergenic),chr1 g.180934976C>T (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 1 180945783 . C . . NT END=180953812;NT GT ./. 1 180953853 rs3747957 A G 73 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4756,G/0.5244;PC=0.062;Gene=STX6/NM_001286210.1/0;CC=c.348T>C;ProtCh=p.N116=;VC=Silent;Gene=STX6/NM_005819.5/1;CC=c.651T>C;ProtCh=p.N217=;VC=Silent;DM=STX6/SNARE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:14:0:0:20:638:73.29:37.32:35.97:1.00:1.00:1.00:60:38.0:0:0:41:98:31:NM_005819.4(STX6) c.651T>C (p.(=)),NM_005819.4(STX6) c.651T>C (p.(=)):0.57,0.57:0.552591,0.552591 1 180953908 . C . . NT END=180957374;NT GT ./. 1 180954089 rs4652547 A G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4754,G/0.5246;Gene=STX6/NM_001286210.1/0;CC=c.294-182T>C;VC=Intron;Gene=STX6/NM_005819.5/1;CC=c.597-182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:142:16.57:0.00:16.57:1.00:0.00:1.00:60:40.0:0:0:116:35:2:NM_005819.4(STX6) c.597-182T>C,NM_005819.4(STX6) c.597-182T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 180957130 rs7528255 C A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3261,A/0.6739;PC=0.001;Gene=STX6/NM_001286210.1/0;CC=c.293+245G>T;VC=Intron;Gene=STX6/NM_005819.5/1;CC=c.596+245G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:110:12.87:12.87:0.00:1.00:1.00:0.00:60:69.5:0:0:45:104:28:NM_005819.4(STX6) c.596+245G>T,NM_005819.4(STX6) c.596+245G>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 180957482 . C . . NT END=180959119;NT GT ./. 1 180958946 rs4111520 A G 61 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4728,G/0.5272;PC=0.002;Gene=STX6/NM_001286210.1/0;CC=c.186+174T>C;VC=Intron;Gene=STX6/NM_005819.5/1;CC=c.489+174T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:18:0:0:18:523:60.88:60.88:0.00:1.00:1.00:0.00:60:34.4:0:0:63:87:33:NM_005819.4(STX6) c.489+174T>C,NM_005819.4(STX6) c.489+174T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 180959246 . C . . NT END=180962498;NT GT ./. 1 180962282 rs1411478 A G 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4736,G/0.5264;Gene=STX6/NM_001286210.1/0;CC=c.60+217T>C;VC=Intron;Gene=STX6/NM_005819.5/1;CC=c.363+217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:43.8:0:0:73:78:43:NM_005819.4(STX6) c.363+217T>C,NM_005819.4(STX6) c.363+217T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 180962562 . C . . NT END=180971741;NT GT ./. 1 180971837 . G . . NT END=180974355;NT GT ./. 1 180974600 . C . . NT END=180991774;NT GT ./. 1 180991665 rs12565758 C G 94 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7328,G/0.2672;PC=0.945;Gene=STX6/NM_001286210.1/0;CC=c.-4+110G>C;VC=Intron;Gene=STX6/NM_005819.5/1;CC=c.35+110G>C;VC=Intron;DM=STX6/Syntaxin-6_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:75:G:29:27:0:0:29:808:94.35:82.68:11.67:1.00:1.00:1.00:60:45.9:0:0:28:116:23:NM_005819.4(STX6) c.35+110G>C,NM_005819.4(STX6) c.35+110G>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 180991810 . G . . NT END=181003143;NT GT ./. 1 180999631 rs59645715 G C 13 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5803,C/0.4197;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=124;NP=2;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:113:13.17:11.63:1.54:1.00:1.00:1.00:60:62.0:1:0:57:79:37:NM_001531.2(MR1) c.-161-u2930G>C,NM_001531.2(MR1) c.-161-u2930G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 181003211 . G . . NT END=181018187;NT GT ./. 1 181018449 . G . . NT END=181019146;NT GT ./. 1 181019423 . G . . NT END=181021370;NT GT ./. 1 181021647 . G . . NT END=181022708;NT GT ./. 1 181022517 . C CA 7 rn VT=INS;SST=Single;DP=8;PC=0.006;Gene=MR1/NM_001194999.1/0;CC=c.746-176_746-175insA;VC=Intron;Gene=MR1/NM_001195000.1/0;CC=c.605-176_605-175insA;VC=Intron;Gene=MR1/NM_001195035.1/0;CC=c.605-1828_605-1827insA;VC=Intron;Gene=MR1/NM_001310213.1/0;CC=c.392-176_392-175insA;VC=Intron;Gene=MR1/NM_001531.2/1;CC=c.881-176_881-175insA;VC=Intron;DM=MR1/C1-set;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:C,CA,D:8:8:3:2:3,3,2:104,74,67:0.00,6.94,6.08:0.00,6.94,6.08:0.00,0.00,0.00:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.00,0.00:60,60,60:4.0,31.3,0.0:0,0,0:0,0,0:72,24,84:78,94,66:54,3,31:-,NM_001531.2(MR1) c.881-192_881-191insA:-,NOT_FOUND:-,NOT_FOUND 1 181022814 . G . . NT END=181024360;NT GT ./. 1 181024402 . T . . NT END=181058038;NT GT ./. 1 181057874 rs6425663 T G 81 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=IER5/NM_016545.4/1;CC=c.-165T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:22:0:0:22:703:80.70:80.70:0.00:1.00:1.00:0.00:60:38.3:0:0:48:102:32:NM_016545.4(IER5) c.-165T>G,NM_016545.4(IER5) c.-165T>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 181058313 rs3747955 G A 548 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.5567,A/0.4433;Gene=IER5/NM_016545.4/1;CC=c.275G>A;ProtCh=p.R92H;VC=Missense;DM=IER5/IER GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:151:102:0:0:151:4765:548.15:273.74:274.42:1.00:1.00:1.00:60:42.5:0:0:65:79:30:NM_016545.4(IER5) c.275G>A (p.Arg92His),NM_016545.4(IER5) c.275G>A (p.Arg92His):0.43,0.43:0.287162,0.287162 1 181058618 rs1416829 C G 572 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=175;DB;DBA=NA;PAF=C/0.5563,G/0.4437;PC=0.001;Gene=IER5/NM_016545.4/1;CC=c.580C>G;ProtCh=p.R194G;VC=Missense;DM=IER5/IER GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:175:131:0:0:3,172:27,4957:0.00,571.80:0.00,340.19:0.00,231.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:78.7,65.5:0,1:0,0:98,69:53,80:8,34:NM_016545.4(IER5) c.580C>G (p.Arg194Gly),NM_016545.4(IER5) c.580C>G (p.Arg194Gly):0.43,0.43:NOT_FOUND,NOT_FOUND 1 181058643 rs1361365 A G 626 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=180;DB;DBA=NA;PAF=A/0.03395,G/0.9661;Gene=IER5/NM_016545.4/1;CC=c.605A>G;ProtCh=p.Q202R;VC=Missense;DM=IER5/IER GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:180:131:0:0:2,177,1:24,5470,7:0.00,626.48,0.02:0.00,348.16,-0.01:0.00,278.32,0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:110.5,62.3,130.0:0,0,0:0,0,0:109,71,90:37,76,61:32,40,0:NM_016545.4(IER5) c.605A>G (p.Gln202Arg),NM_016545.4(IER5) c.605A>G (p.Gln202Arg):0.97,0.97:NOT_FOUND,NOT_FOUND 1 181059023 . G . . NT END=181452880;NT GT ./. 1 181105947 rs531437877 A C 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9918,C/0.008187 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,C:4:4:0:0:1,3:35,101:0.00,10.55:0.00,9.03:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:170.0,205.0:0,2:0,0:76,23:56,116:0,23:-,chr1 g.181105946A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 181105960 rs77500100 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,94:0.00,9.85:0.00,4.93:0.00,4.93:0.00,0.85:0.00,0.85:0.00,0.85:60,60:170.0,162.3:0,3:0,0:89,31:43,103:0,5:-,chr1 g.181105959C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 181105962 rs143249407 CAT C 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CAT,C:4:4:0:3:1,3:34,97:0.00,10.15:0.00,5.08:0.00,5.08:0.00,0.85:0.00,0.85:0.00,0.85:60,60:170.0,201.7:0,0:0,0:91,38:41,101:0,23:-,chr1 g.181105963_181105964delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 181105971 rs78312014 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:4:0:0:1,3:35,106:0.00,11.05:0.00,5.53:0.00,5.53:0.00,0.85:0.00,0.85:0.00,0.85:60,60:170.0,201.7:0,3:0,0:100,45:32,94:0,23:-,chr1 g.181105970C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 181105979 rs79169150 C G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:4:0:0:1,3:35,108:0.00,11.25:0.00,5.63:0.00,5.63:0.00,0.85:0.00,0.85:0.00,0.85:60,60:170.0,181.0:0,3:0,0:108,34:24,86:0,4:-,chr1 g.181105978C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 181105982 rs367847611 CAG C 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=115;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CAG,C:4:4:0:3:1,3:35,104:0.00,10.85:0.00,5.43:0.00,5.43:0.00,0.85:0.00,0.85:0.00,0.85:60,60:170.0,177.7:1,0:0,0:111,37:21,83:0,4:-,chr1 g.181105983_181105984delAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 181294777 rs71571275 T TTTTA 7 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9325,TTTTA/.,TTTTATTTA/0.06749;DB;DBA=NA;PAF=T/0.5413,TTTTA/0.4587;DB;DBA=NA;PAF=T/0.5413,TTTTA/0.4587;NP=13;NP=217;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:T,TTTTA:12:12:3:0:9,3:269,88:0.00,7.30:0.00,7.30:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:21.6,19.0:0,0:0,0:40,60:109,88:19,24:-,chr1 g.181294777_181294778insTTTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 181453147 . A . . NT END=181479612;NT GT ./. 1 181477283 rs55742094 T TTGTGTG 13 sb,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4436,TTGTG/0.3245,TTGTGTG/.,TTGTGTGTG/.;DB;DBA=NA;PAF=NA;NP=11;NP=4;NP=77;Gene=CACNA1E/NM_000721.3/0;CC=c.267-2302_267-2301insTGTGTG;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.267-2302_267-2301insTGTGTG;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.267-2302_267-2301insTGTGTG;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:T,TTGTGTG:6:6:4:1:2,4:48,130:0.00,13.26:0.00,11.70:0.00,1.56:0.00,0.93:0.00,0.93:0.00,0.91:60,60:17.5,2.5:0,0:0,0:63,70:68,62:24,25:-,NM_001205293.1(CACNA1E) c.267-2330_267-2329insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 181479719 . G . . NT END=181480506;NT GT ./. 1 181480647 . G . . NT END=181546901;NT GT ./. 1 181485479 rs386368906 CCA C 9 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=57;PC=0.003;Gene=CACNA1E/NM_000721.3/0;CC=c.512+4874_512+4875delCA;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.512+4874_512+4875delCA;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.512+4874_512+4875delCA;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CCA,C:4:6:0:5:1,3:34,126:0.00,8.83:0.00,9.41:0.00,-0.59:0.00,0.73:0.00,0.73:0.00,0.51:60,60:13.0,53.0:0,2:0,0:25,52:37,97:0,3:-,NM_001205293.1(CACNA1E) c.512+4834_512+4835delCA:-,NOT_FOUND:-,NOT_FOUND 1 181547006 . G . . NT END=181548207;NT GT ./. 1 181548361 . G . . NT END=181549730;NT GT ./. 1 181549547 rs10494540 T G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5455,G/0.4545;PC=0.031;Gene=CACNA1E/NM_000721.3/0;CC=c.770-184T>G;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.770-184T>G;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.770-184T>G;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:149:17.26:17.26:0.00:1.00:1.00:0.00:60:29.8:0:0:84:66:40:NM_001205293.1(CACNA1E) c.770-184T>G,NM_001205293.1(CACNA1E) c.770-184T>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 181549913 . G . . NT END=181620473;NT GT ./. 1 181552239 rs56360554 TACACACACAC T 10 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=76;PC=0.006;Gene=CACNA1E/NM_000721.3/0;CC=c.951+2360_951+2369delACACACACAC;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.951+2360_951+2369delACACACACAC;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.951+2360_951+2369delACACACACAC;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:TACACACACAC,T:5:7:0:6:2,3:52,201:0.00,9.95:0.00,3.15:0.00,6.80:0.00,0.67:0.00,0.95:0.00,0.93:60,60:21.5,3.3:0,3:0,0:146,72:4,58:1,12:-,NM_001205293.1(CACNA1E) c.951+2328_951+2337delACACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 181620578 . G . . NT END=181680089;NT GT ./. 1 181680206 . G . . NT END=181684473;NT GT ./. 1 181684528 . G . . NT END=181685175;NT GT ./. 1 181684605 rs12407563 A G 33 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1637,G/0.8363;PC=0.004;Gene=CACNA1E/NM_000721.3/0;CC=c.1225+78A>G;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.1225+78A>G;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.1225+78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:1:0:0:10:284:33.13:1.94:31.19:1.00:1.00:1.00:60:40.7:0:0:65:85:43:NM_001205293.1(CACNA1E) c.1225+78A>G,NM_001205293.1(CACNA1E) c.1225+78A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 181685266 . G . . NT END=181686228;NT GT ./. 1 181686216 rs7540850 T C 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.4449,C/0.5551;Gene=CACNA1E/NM_000721.3/0;CC=c.1316-13T>C;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.1316-13T>C;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.1316-13T>C;VC=Intron;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:48:0:0:25,30:790,982:74.46,0.00:52.19,0.00:22.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.1,7.5:0,0:0,0:34,56:95,91:21,33:NM_001205293.1(CACNA1E) c.1316-13T>C,-:0.6,-:0.592027,- 1 181686439 . G . . NT END=181687190;NT GT ./. 1 181687304 . G . . NT END=181688886;NT GT ./. 1 181688868 rs4651113 G A 83 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.8205,A/0.1795;PC=0.020;Gene=CACNA1E/NM_000721.3/0;CC=c.1639-19G>A;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.1639-19G>A;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.1639-19G>A;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:46:35:0:0:27,18,1:834,591,9:83.07,0.00,-0.02:43.40,0.00,0.05:39.67,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.9,10.4,113.0:0,0,0:0,0,0:58,51,63:92,89,88:25,24,0:NM_001205293.1(CACNA1E) c.1639-19G>A,-:0.14,-:0.15075,- 1 181689000 . G . . NT END=181689341;NT GT ./. 1 181689474 . G . . NT END=181689918;NT GT ./. 1 181689992 . G . . NT END=181690893;NT GT ./. 1 181690750 rs371501501 CT C 17 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=70;PC=0.024;Gene=CACNA1E/NM_000721.3/0;CC=c.1957-131delT;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.1957-131delT;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.1957-131delT;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:CT,I,C:18:19:2:7:10,2,6:310,66,214:0.00,5.12,17.02:0.00,5.12,17.02:0.00,0.00,0.00:0.00,0.00,0.94:0.00,0.00,0.94:0.00,0.00,0.00:60,60,60:20.6,18.0,9.5:0,0,1:0,0,0:35,22,53:115,128,98:18,6,27:-,NM_001205293.1(CACNA1E) c.1957-143delT:-,NOT_FOUND:-,NOT_FOUND 1 181691012 . G . . NT END=181693605;NT GT ./. 1 181693550 . GC G 49 nt VT=DEL;SST=Single;DP=34;Gene=CACNA1E/NM_000721.3/0;CC=c.2075-54delC;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.2075-54delC;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.2075-54delC;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:34:32:0:16:18,16:580,518:0.00,49.24:0.00,43.51:0.00,5.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,9.4:0,0:0,0:61,54:89,96:37,23:-,NM_001205293.1(CACNA1E) c.2075-55delC:-,NOT_FOUND:-,NOT_FOUND 1 181693674 . G . . NT END=181695200;NT GT ./. 1 181695299 . G . . NT END=181700310;NT GT ./. 1 181700368 . G . . NT END=181701519;NT GT ./. 1 181701423 rs2280865 C T 126 nt VT=SNV;PN=C;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.6144,T/0.3856;Gene=CACNA1E/NM_000721.3/0;CC=c.2298-97C>T;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.2298-97C>T;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.2241-97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:78:0:0:43,41:1427,1319:0.00,126.14:0.00,98.29:0.00,27.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,45.4:0,0:0,0:39,34:111,105:20,22:-,NM_001205293.1(CACNA1E) c.2298-97C>T:-,0.47:-,NOT_FOUND 1 181701799 rs35737760 T A 162 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.85,A/0.15;Gene=CACNA1E/NM_000721.3/0;CC=c.2577T>A;ProtCh=p.D859E;VC=Missense;Gene=CACNA1E/NM_001205293.1/1;CC=c.2577T>A;ProtCh=p.D859E;VC=Missense;Gene=CACNA1E/NM_001205294.1/0;CC=c.2520T>A;ProtCh=p.D840E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:123:82:0:0:56,67:1723,2032:162.20,0.00:96.57,0.00:65.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,13.3:0,0:0,0:57,61:93,84:37,34:NM_001205293.1(CACNA1E) c.2577T>A (p.Asp859Glu),-:0.12,-:0.127859,- 1 181702171 . G . . NT END=181702572;NT GT ./. 1 181702887 . G . . NT END=181705410;NT GT ./. 1 181705571 . G . . NT END=181706660;NT GT ./. 1 181705782 rs2293990 A T 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7871,T/0.2129;Gene=CACNA1E/NM_000721.3/0;CC=c.3422+212A>T;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.3422+212A>T;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.3365+212A>T;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,T:8:0:0:0:2,6:66,164:0.00,17.22:0.00,0.00:0.00,17.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.5,49.0:0,0:0,0:97,92:53,59:6,9:-,NM_001205293.1(CACNA1E) c.3422+212A>T:-,0.2:-,NOT_FOUND 1 181706685 rs34488539 C T 192 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.8169,T/0.1831;PC=0.563;Gene=CACNA1E/NM_000721.3/0;CC=c.3447C>T;ProtCh=p.I1149=;VC=Silent;Gene=CACNA1E/NM_001205293.1/1;CC=c.3447C>T;ProtCh=p.I1149=;VC=Silent;Gene=CACNA1E/NM_001205294.1/0;CC=c.3390C>T;ProtCh=p.I1130=;VC=Silent;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:135:98:0:0:2,70,63:23,2276,2018:-0.05,0.00,191.80:-0.09,0.00,107.77:0.03,0.00,84.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:171.0,5.8,42.0:0,0,0:0,0,0:83,75,73:68,67,72:58,37,40:-,NM_001205293.1(CACNA1E) c.3447C>T (p.(=)):-,0.16:-,0.164486 1 181706791 . G . . NT END=181707502;NT GT ./. 1 181707563 . G . . NT END=181708282;NT GT ./. 1 181708168 rs73045109 A G 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8015,G/0.1985;Gene=CACNA1E/NM_000721.3/0;CC=c.3613-115A>G;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.3613-115A>G;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.3556-115A>G;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:A,G:18:18:0:0:5,13:168,361:0.00,37.65:0.00,37.65:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.4,28.8:0,0:0,0:35,27:109,124:11,15:-,NM_001205293.1(CACNA1E) c.3613-115A>G:-,0.17:-,NOT_FOUND 1 181708390 . G . . NT END=181719611;NT GT ./. 1 181719624 . G . . NT END=181721278;NT GT ./. 1 181719679 rs704332 C T 64 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.4515,T/0.5485;PC=0.608;Gene=CACNA1E/NM_000721.3/0;CC=c.3731+56C>T;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.3731+56C>T;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.3674+56C>T;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:17:0:0:15,20:473,649:0.00,64.04:0.00,18.62:0.00,45.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,38.9:0,0:0,0:97,103:53,40:29,16:-,NM_001205293.1(CACNA1E) c.3731+56C>T:-,0.57:-,0.543364 1 181721376 . G . . NT END=181724372;NT GT ./. 1 181724534 . G . . NT END=181725091;NT GT ./. 1 181725110 rs4652678 T C 127 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.6817,C/0.3183;PC=0.163;Gene=CACNA1E/NM_000721.3/0;CC=c.4008T>C;ProtCh=p.H1336=;VC=Silent;Gene=CACNA1E/NM_001205293.1/1;CC=c.4008T>C;ProtCh=p.H1336=;VC=Silent;Gene=CACNA1E/NM_001205294.1/0;CC=c.3951T>C;ProtCh=p.H1317=;VC=Silent;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:92:75:0:0:41,1,50:1347,10,1573:127.06,-0.13,0.00:80.70,-0.04,0.00:46.36,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,10.0,3.5:0,0,0:0,0,0:67,93,59:82,58,85:22,0,28:NM_001205293.1(CACNA1E) c.4008T>C (p.(=)),-:0.27,-:0.317874,- 1 181725230 . G . . NT END=181726060;NT GT ./. 1 181726263 . G . . NT END=181727082;NT GT ./. 1 181726413 rs704330 G A 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1701,A/0.8299;PC=0.010;Gene=CACNA1E/NM_000721.3/0;CC=c.4329+151G>A;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.4329+151G>A;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.4272+151G>A;VC=Intron;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:388:44.52:0.00:44.52:1.00:0.00:1.00:60:50.8:0:0:104:45:16:NM_001205293.1(CACNA1E) c.4329+151G>A,NM_001205293.1(CACNA1E) c.4329+151G>A:0.81,0.81:NOT_FOUND,NOT_FOUND 1 181726434 . A G 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;PC=0.001;Gene=CACNA1E/NM_000721.3/0;CC=c.4329+172A>G;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.4329+172A>G;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.4272+172A>G;VC=Intron;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:9:0:0:0:3,6:106,188:0.00,19.17:0.00,0.00:0.00,19.17:0.00,0.99:0.00,0.00:0.00,0.99:60,60:36.7,65.7:0,0:0,0:113,116:38,34:7,19:-,NM_001205293.1(CACNA1E) c.4329+172A>G:-,NOT_FOUND:-,NOT_FOUND 1 181727030 rs12564606 A T 90 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.7286,T/0.2714;Gene=CACNA1E/NM_000721.3/0;CC=c.4330-53A>T;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.4330-53A>T;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.4273-53A>T;VC=Intron;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:62:54:0:0:33,29:1102,952:0.00,90.39:0.00,67.57:0.00,22.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,37.3:0,0:0,0:49,53:101,95:25,24:-,NM_001205293.1(CACNA1E) c.4330-53A>T:-,0.22:-,NOT_FOUND 1 181727248 . G . . NT END=181727893;NT GT ./. 1 181728005 . G . . NT END=181731709;NT GT ./. 1 181731667 rs72735263 T TC 9 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.737,TC/0.2604,TTC/0.002596;DB;DBA=NA;PAF=NA;NP=907;PC=0.001;Gene=CACNA1E/NM_000721.3/0;CC=c.4606-42dupC;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.4606-42dupC;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.4549-42dupC;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T,TC:8:9:4:0:1,4,3:35,105,130:2.82,0.00,9.00:2.85,0.00,9.19:-0.03,0.00,-0.19:0.00,0.00,0.64:0.00,0.00,0.64:0.00,0.00,0.73:60,60,60:35.0,44.5,3.0:0,0,1:0,0,0:27,79,44:124,71,83:0,26,32:-,NM_001205293.1(CACNA1E) c.4606-43_4606-42insC:-,NOT_FOUND:-,NOT_FOUND 1 181731794 . G . . NT END=181732541;NT GT ./. 1 181732668 . G . . NT END=181735681;NT GT ./. 1 181732695 rs72735265 A G 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.7376,G/0.2624;PC=0.878;Gene=CACNA1E/NM_000721.3/0;CC=c.4815+28A>G;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.4815+28A>G;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.4758+28A>G;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:55:20:0:0:30,1,24:1012,6,738:0.00,-0.18,69.11:0.00,-0.06,23.18:0.00,-0.12,45.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.5,151.0,34.1:0,0,0:0,0,0:92,138,97:59,12,53:19,0,26:-,NM_001205293.1(CACNA1E) c.4815+28A>G:-,0.21:-,0.264082 1 181735748 . G . . NT END=181740428;NT GT ./. 1 181740521 . G . . NT END=181741201;NT GT ./. 1 181740924 rs169235 A G 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7402,G/0.2598;Gene=CACNA1E/NM_000721.3/0;CC=c.4974-278A>G;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.4974-278A>G;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.4917-278A>G;VC=Intron;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:4:4:0:0:2,2:64,72:0.00,6.95:0.00,6.95:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,36.0:0,0:0,0:81,95:69,56:12,40:-,NM_001205293.1(CACNA1E) c.4974-278A>G:-,0.21:-,NOT_FOUND 1 181741301 rs199930 C T 126 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.7546,T/0.2454;Gene=CACNA1E/NM_000721.3/0;CC=c.5073C>T;ProtCh=p.N1691=;VC=Silent;Gene=CACNA1E/NM_001205293.1/1;CC=c.5073C>T;ProtCh=p.N1691=;VC=Silent;Gene=CACNA1E/NM_001205294.1/0;CC=c.5016C>T;ProtCh=p.N1672=;VC=Silent;DM=CACNA1E/Ion_trans;DM=CACNA1E/Ion_trans;DM=CACNA1E/GPHH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:121:82:0:0:78,43:2525,1400:0.00,126.32:0.00,48.51:0.00,77.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,35.7:0,0:0,0:86,66:60,85:23,36:-,NM_001205293.1(CACNA1E) c.5073C>T (p.(=)):-,0.2:-,0.248725 1 181741368 . G . . NT END=181745236;NT GT ./. 1 181745365 . G . . NT END=181750562;NT GT ./. 1 181745580 rs199932 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7522,A/0.2478;Gene=CACNA1E/NM_000721.3/0;CC=c.5267+216G>A;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5267+216G>A;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5210+216G>A;VC=Intron;DM=CACNA1E/GPHH;DM=CACNA1E/GPHH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:8:0:0:0:4,4:135,91:13.02,0.00:0.00,0.00:13.02,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:36.2,31.8:0,0:0,0:90,90:61,60:22,13:NM_001205293.1(CACNA1E) c.5267+216G>A,-:0.19,-:NOT_FOUND,- 1 181748992 rs199934 A C 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7516,C/0.2484;Gene=CACNA1E/NM_000721.3/0;CC=c.5268-1571A>C;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5268-1571A>C;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5211-1571A>C;VC=Intron;DM=CACNA1E/GPHH;DM=CACNA1E/GPHH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:152:17.58:5.72:11.86:1.00:1.00:1.00:60:38.6:0:0:62:63:49:NM_001205293.1(CACNA1E) c.5268-1571A>C,NM_001205293.1(CACNA1E) c.5268-1571A>C:0.21,0.21:NOT_FOUND,NOT_FOUND 1 181750660 . G . . NT END=181752814;NT GT ./. 1 181750932 rs561352 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7448,C/0.2552;Gene=CACNA1E/NM_000721.3/0;CC=c.5364+273T>C;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5364+273T>C;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5307+273T>C;VC=Intron;DM=CACNA1E/GPHH;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:32.0:0:0:86:64:26:NM_001205293.1(CACNA1E) c.5364+273T>C,NM_001205293.1(CACNA1E) c.5364+273T>C:0.22,0.22:NOT_FOUND,NOT_FOUND 1 181752769 rs144664284 A AT 15 sb;idl,rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6552,AT/0.3403,ATT/0.004593,ATTT/.;NP=234;PC=0.985;Gene=CACNA1E/NM_000721.3/0;CC=c.5365-32dupT;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5365-32dupT;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5308-32dupT;VC=Intron;DM=CACNA1E/GPHH;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,T,AT:31:27:8:0:24,1,6:754,34,251:0.00,2.04,14.74:0.00,-0.20,14.00:0.00,2.24,0.74:0.00,0.00,0.89:0.00,0.00,0.98:0.00,0.00,0.90:60,60,60:21.8,34.0,77.7:1,0,2:0,0,0:24,30,73:120,120,76:19,0,40:-,NM_001205293.1(CACNA1E) c.5365-46_5365-45insT:-,NOT_FOUND:-,NOT_FOUND 1 181752783 rs798209 T G,TG 52 idl,nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.7494,TG/0.2498,TT/.,TTG/0.0007987;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DM=CACNA1E/GPHH;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:G,T,TG:32:27:18:0:10,6,16:302,100,575:28.76,0.00,51.99:17.70,0.00,26.82:11.06,0.00,25.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:70,60,60:34.7,48.3,13.9:0,0,2:0,0,0:32,115,41:115,35,105:26,25,21:NM_001205293.1(CACNA1E) c.5365-32T>G,NM_001205293.1(CACNA1E) c.5365-32_5365-31insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 181752921 . G . . NT END=181753796;NT GT ./. 1 181752923 rs397686500 AAGCTT A 127 nt VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=AAGCTT/0.1877,A/0.8123;DB;DBA=NA;PAF=AAGCTT/0.1877,A/0.8123;DB;DBA=NA;PAF=NA;NP=3202;PC=0.685;Gene=CACNA1E/NM_000721.3/0;CC=c.5470+11_5470+15delCTTAG;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5470+11_5470+15delCTTAG;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5413+11_5413+15delCTTAG;VC=Intron;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:AAGCTT,A:45:26:0:37:8,37:219,1189:0.00,127.44:0.00,46.33:0.00,81.11:0.00,1.00:0.00,1.00:0.00,1.00:60,70:48.5,14.5:0,0:0,0:142,103:6,43:2,23:-,NM_001205293.1(CACNA1E) c.5470+4_5470+8delAGCTT:-,0.81:-,0.78029 1 181753030 rs546191 T C 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.2983,C/0.7017;Gene=CACNA1E/NM_000721.3/0;CC=c.5470+110T>C;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5470+110T>C;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5413+110T>C;VC=Intron;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:0:0:0:21:695:79.51:0.00:79.51:1.00:0.00:1.00:60:37.3:0:0:118:29:21:NM_001205293.1(CACNA1E) c.5470+110T>C,NM_001205293.1(CACNA1E) c.5470+110T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 181753905 . G . . NT END=181754453;NT GT ./. 1 181754059 rs576602 A C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6669,C/0.3331;Gene=CACNA1E/NM_000721.3/0;CC=c.5578+155A>C;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5578+155A>C;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5521+155A>C;VC=Intron;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:140:15.91:0.00:15.91:1.00:0.00:1.00:60:53.0:0:0:91:59:19:NM_001205293.1(CACNA1E) c.5578+155A>C,NM_001205293.1(CACNA1E) c.5578+155A>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 181754314 rs579105 G C 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.747,C/0.253;Gene=CACNA1E/NM_000721.3/0;CC=c.5579-140G>C;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5579-140G>C;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5522-140G>C;VC=Intron;DM=CACNA1E/Ca_chan_IQ;DM=CACNA1E/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:321:36.82:36.82:0.00:1.00:1.00:0.00:60:39.0:0:0:35:115:19:NM_001205293.1(CACNA1E) c.5579-140G>C,NM_001205293.1(CACNA1E) c.5579-140G>C:0.22,0.22:NOT_FOUND,NOT_FOUND 1 181754555 . G . . NT END=181754848;NT GT ./. 1 181754803 rs473200 C T 127 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.753,A/.,T/0.247;Gene=CACNA1E/NM_000721.3/0;CC=c.5680-46C>T;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5680-46C>T;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5623-46C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:28:0:0:33:1109:126.64:93.93:32.70:1.00:1.00:1.00:60:36.7:0:0:30:111:24:NM_001205293.1(CACNA1E) c.5680-46C>T,NM_001205293.1(CACNA1E) c.5680-46C>T:0.22,0.22:0.19769,0.19769 1 181754956 . G . . NT END=181759580;NT GT ./. 1 181759252 rs601059 C T 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7474,T/0.2526;Gene=CACNA1E/NM_000721.3/0;CC=c.5787-329C>T;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5787-329C>T;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5730-329C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:153:17.67:17.67:0.00:1.00:1.00:0.00:60:37.6:0:0:51:99:21:NM_001205293.1(CACNA1E) c.5787-329C>T,NM_001205293.1(CACNA1E) c.5787-329C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 1 181759417 rs593875 C G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9237,G/0.07628;PC=0.546;Gene=CACNA1E/NM_000721.3/0;CC=c.5787-164C>G;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5787-164C>G;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5730-164C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:10:10:0:0:3,7:74,245:0.00,25.21:0.00,25.21:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:84.0,62.9:0,0:0,0:56,105:95,46:13,34:-,NM_001205293.1(CACNA1E) c.5787-164C>G:-,0.06:-,NOT_FOUND 1 181759443 rs74127864 T A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=2;NP=30;Gene=CACNA1E/NM_000721.3/0;CC=c.5787-138T>A;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5787-138T>A;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5730-138T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,T,I:8:9:3:0:3,3,2:91,73,87:8.58,0.00,5.03:8.58,0.00,5.03:0.00,0.00,0.00:0.64,0.00,0.00:0.64,0.00,0.00:0.00,0.00,0.00:60,60,60:138.0,50.3,107.5:0,0,1:0,0,0:33,105,74:118,37,77:16,8,24:NM_001205293.1(CACNA1E) c.5787-138T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 181759473 rs593942 T A 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.7378,A/0.2622;Gene=CACNA1E/NM_000721.3/0;CC=c.5787-108T>A;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5787-108T>A;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5730-108T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:0:14:377:44.29:44.29:0.00:1.00:1.00:0.00:60:76.8:0:0:38:113:28:NM_001205293.1(CACNA1E) c.5787-108T>A,NM_001205293.1(CACNA1E) c.5787-108T>A:0.23,0.23:NOT_FOUND,NOT_FOUND 1 181759693 . G . . NT END=181762800;NT GT ./. 1 181762760 rs75408623 G A 81 nt VT=SNV;PN=T;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.9617,A/0.03834;PC=0.698;Gene=CACNA1E/NM_000721.3/0;CC=c.5899-1240G>A;VC=Intron;Gene=CACNA1E/NM_001205293.1/1;CC=c.5899-41G>A;VC=Intron;Gene=CACNA1E/NM_001205294.1/0;CC=c.5842-1240G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:64:0:0:27,45:889,1519:81.10,0.00:52.50,0.00:28.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,8.7:0,0:0,0:40,48:109,98:19,30:NM_001205293.1(CACNA1E) c.5899-41G>A,-:0.03,-:0.048151,- 1 181762930 . G . . NT END=181763999;NT GT ./. 1 181764181 . G . . NT END=181765803;NT GT ./. 1 181765995 . G . . NT END=181767427;NT GT ./. 1 181767971 . A . . NT END=182025438;NT GT ./. 1 181768186 rs2280869 T C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8612,C/0.1388;PC=0.988;Gene=CACNA1E/NM_000721.3/0;CC=c.*216T>C;VC=3UTR;Gene=CACNA1E/NM_001205293.1/1;CC=c.*216T>C;VC=3UTR;Gene=CACNA1E/NM_001205294.1/0;CC=c.*216T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:C,T:14:0:0:0:5,9:145,302:12.91,0.00:0.00,0.00:12.91,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:33.4,2.7:0,0:0,0:84,120:67,31:33,24:NM_001205293.1(CACNA1E) c.*216T>C,-:0.13,-:NOT_FOUND,- 1 182026813 rs12568050 G C 314 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=233;DB;DBA=NA;PAF=G/0.8231,C/0.1769,T/.;Gene=ZNF648/NM_001009992.1/1;CC=c.333C>G;ProtCh=p.N111K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:233:148:0:0:101,132:3347,4109:313.68,0.00:146.31,0.00:167.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,9.8:0,0:0,0:70,71:80,74:34,40:NM_001009992.1(ZNF648) c.333C>G (p.Asn111Lys),-:0.17,-:0.123558,- 1 182027022 rs12564283 C T 300 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=221;DB;DBA=NA;PAF=C/0.8243,T/0.1757;Gene=ZNF648/NM_001009992.1/1;CC=c.124G>A;ProtCh=p.E42K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:221:129:0:0:1,120,100:9,3798,3185:-0.22,0.00,300.36:-0.11,0.00,138.44:-0.11,0.00,161.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:62.0,8.5,37.4:0,0,0:0,0,0:96,79,69:55,67,68:0,37,39:-,NM_001009992.1(ZNF648) c.124G>A (p.Glu42Lys):-,0.17:-,0.122097 1 182027146 . G . . NT END=182353539;NT GT ./. 1 182276336 rs2985428 T C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5028,C/0.4972;NP=519;PC=0.022;Gene=LINC01344/NR_104175.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:4:0:1:2,3:70,99:6.49,0.00:3.25,0.00:3.25,0.00:0.46,0.00:0.87,0.00:0.87,0.00:60,60:122.5,0.0:0,0:0,0:100,56:43,30:0,7:chr1 g.182276335T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 182353859 . C . . NT END=182354491;NT GT ./. 1 182354174 rs71785633 CAT C 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CAT/0.3243,C/0.6757;NP=25;PC=0.013;Gene=GLUL/NM_001033056.3/0;CC=c.803+316_803+317delAT;VC=Intron;Gene=GLUL/NM_001033044.3/0;CC=c.803+316_803+317delAT;VC=Intron;Gene=GLUL/NM_002065.6/1;CC=c.803+316_803+317delAT;VC=Intron;DM=GLUL/Gln-synt_C;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:4:4:115:13.40:3.38:10.03:1.00:1.00:1.00:60:28.0:0:0:79:71:31:NM_002065.5(GLUL) c.803+316_804-317delAT,NM_002065.5(GLUL) c.803+316_804-317delAT:0.66,0.66:NOT_FOUND,NOT_FOUND 1 182354692 . C . . NT END=182354894;NT GT ./. 1 182354850 rs2296520 A G 291 nt VT=SNV;PN=T;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.3243,G/0.6757;Gene=GLUL/NM_001033056.3/0;CC=c.603+45T>C;VC=Intron;Gene=GLUL/NM_001033044.3/0;CC=c.603+45T>C;VC=Intron;Gene=GLUL/NM_002065.6/1;CC=c.603+45T>C;VC=Intron;DM=GLUL/Gln-synt_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:52:0:0:75:2548:290.52:167.20:123.31:1.00:1.00:1.00:60:39.2:0:0:59:90:35:NM_002065.5(GLUL) c.603+45T>C,NM_002065.5(GLUL) c.603+45T>C:0.66,0.66:0.590266,0.590266 1 182355023 . C . . NT END=182355390;NT GT ./. 1 182355046 rs2296519 A G 232 nt VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.3243,G/0.6757;Gene=GLUL/NM_001033056.3/0;CC=c.476-24T>C;VC=Intron;Gene=GLUL/NM_001033044.3/0;CC=c.476-24T>C;VC=Intron;Gene=GLUL/NM_002065.6/1;CC=c.476-24T>C;VC=Intron;DM=GLUL/Gln-synt_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:G:63:26:0:0:63:2027:232.48:62.46:170.02:1.00:1.00:1.00:60:40.0:0:0:99:47:31:NM_002065.5(GLUL) c.476-24T>C,NM_002065.5(GLUL) c.476-24T>C:0.66,0.66:0.590916,0.590916 1 182355538 . C . . NT END=182356265;NT GT ./. 1 182356399 rs1058111 A G 261 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.3243,C/.,G/0.6757,T/.;PC=1.000;Gene=GLUL/NM_001033056.3/0;CC=c.195T>C;ProtCh=p.S65=;VC=Silent;Gene=GLUL/NM_001033044.3/0;CC=c.195T>C;ProtCh=p.S65=;VC=Silent;Gene=GLUL/NM_002065.6/1;CC=c.195T>C;ProtCh=p.S65=;VC=Silent;DM=GLUL/Gln-synt_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:44:0:0:70:2279:261.25:108.74:152.51:1.00:1.00:1.00:60:36.9:0:0:92:58:39:NM_002065.5(GLUL) c.195T>C (p.(=)),NM_002065.5(GLUL) c.195T>C (p.(=)):0.66,0.66:0.590497,0.590497 1 182356428 . C . . NT END=182357706;NT GT ./. 1 182357873 . G . . NT END=182368798;NT GT ./. 1 182369078 rs6698722 G A 576 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=G/0.1464,A/0.8536;Gene=TEDDM1/NM_172000.3/1;CC=c.543C>T;ProtCh=p.P181=;VC=Silent;DM=TEDDM1/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:154:120:0:0:154:5025:575.62:366.50:209.12:1.00:1.00:1.00:60:40.9:0:0:51:94:29:NM_172000.3(TEDDM1) c.543C>T (p.(=)),NM_172000.3(TEDDM1) c.543C>T (p.(=)):0.84,0.84:0.838152,0.838152 1 182369233 rs6674281 A G 548 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=144;DB;DBA=NA;PAF=A/0.3219,G/0.6781;PC=0.922;Gene=TEDDM1/NM_172000.3/1;CC=c.388T>C;ProtCh=p.Y130H;VC=Missense;DM=TEDDM1/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:144:83:0:0:1,143:10,4815:0.00,547.87:0.00,272.96:0.00,274.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,41.7:0,0:0,0:148,89:2,59:0,37:NM_172000.3(TEDDM1) c.388T>C (p.Tyr130His),NM_172000.3(TEDDM1) c.388T>C (p.Tyr130His):0.66,0.66:0.594034,0.594034 1 182369621 . G . . NT END=182419300;NT GT ./. 1 182369738 rs7551829 G A 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1474,A/0.8526;Gene=TEDDM1/NM_172000.3/1;CC=c.-118C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:361:42.20:0.00:42.20:1.00:0.00:1.00:60:32.5:0:0:91:59:32:NM_172000.3(TEDDM1) c.-118C>T,NM_172000.3(TEDDM1) c.-118C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 182419314 . G . . NT END=182423092;NT GT ./. 1 182423176 . G . . NT END=182427453;NT GT ./. 1 182427529 . G . . NT END=182429138;NT GT ./. 1 182429269 . G . . NT END=182441530;NT GT ./. 1 182429295 rs57601655 CTG C 108 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=173;PC=0.017;Gene=RGSL1/NM_001137669.1/1;CC=c.301+51_301+52delGT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTG,C:50:21:0:38:16,34:530,1183:0.00,108.16:0.00,27.70:0.00,80.46:0.00,1.00:0.00,1.00:0.00,1.00:60,70:2.0,21.8:0,4:0,0:136,86:12,62:8,22:-,NM_001137669.1(RGSL1) c.301+28_301+29delTG:-,NOT_FOUND:-,NOT_FOUND 1 182441693 . G . . NT END=182442709;NT GT ./. 1 182443678 . G . . NT END=182457419;NT GT ./. 1 182457483 . G . . NT END=182458114;NT GT ./. 1 182458338 . G . . NT END=182462156;NT GT ./. 1 182462265 . G . . NT END=182491138;NT GT ./. 1 182491107 rs607269 A C 66 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.2141,C/0.7859;Gene=RGSL1/NM_001137669.1/1;CC=c.1826-32A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:15:0:0:17:583:66.41:51.00:15.41:1.00:1.00:1.00:60:38.0:0:0:51:100:15:NM_001137669.1(RGSL1) c.1826-32A>C,NM_001137669.1(RGSL1) c.1826-32A>C:0.79,0.79:0.879711,0.879711 1 182491245 . G . . NT END=182496713;NT GT ./. 1 182496829 rs7535533 A G 86 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.6879,G/0.3121;Gene=RGSL1/NM_001137669.1/1;CC=c.2047A>G;ProtCh=p.I683V;VC=Missense;DM=RGSL1/RGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:40:0:0:30,27:945,899:0.00,85.65:0.00,52.03:0.00,33.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,37.0:0,0:0,0:54,56:94,78:32,38:-,NM_001137669.1(RGSL1) c.2047A>G (p.Ile683Val):-,0.34:-,0.325449 1 182496908 . G . . NT END=182499378;NT GT ./. 1 182497021 rs266511 C A 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4665,A/0.5335;Gene=RGSL1/NM_001137669.1/1;CC=c.2125+114C>A;VC=Intron;DM=RGSL1/RGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:0:0:0:17:507:58.78:0.00:58.78:1.00:0.00:1.00:60:37.2:0:0:117:32:17:NM_001137669.1(RGSL1) c.2125+114C>A,NM_001137669.1(RGSL1) c.2125+114C>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 182499497 . G . . NT END=182499924;NT GT ./. 1 182499673 rs528652296 T TACACACAC 26 idl,nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=6;Gene=RGSL1/NM_001137669.1/1;CC=c.2243+204_2243+205insCACACACA;VC=Intron;DM=RGSL1/RGS;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,T,TACACACAC:18:13:11:0:4,6,8:114,186,362:9.89,0.00,25.62:2.38,0.00,14.89:7.50,0.00,10.73:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:41.8,15.3,11.2:0,0,3:0,0,0:58,119,65:90,27,76:49,25,21:-,NM_001137669.1(RGSL1) c.2243+177_2243+178insACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 182500046 . G . . NT END=182501796;NT GT ./. 1 182501509 rs266533 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4673,A/0.5327;Gene=RGSL1/NM_001137669.1/1;CC=c.2365-288G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:150:17.36:17.36:0.00:1.00:1.00:0.00:60:57.0:0:0:36:115:21:NM_001137669.1(RGSL1) c.2365-288G>A,NM_001137669.1(RGSL1) c.2365-288G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 182501927 . G . . NT END=182509381;NT GT ./. 1 182501933 rs266534 C A 152 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.4663,A/0.5337;PC=0.197;Gene=RGSL1/NM_001137669.1/1;CC=c.2494+7C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:A:44:22:0:0:44:1312:151.93:50.41:101.52:1.00:1.00:1.00:60:50.2:0:0:94:54:34:NM_001137669.1(RGSL1) c.2494+7C>A,NM_001137669.1(RGSL1) c.2494+7C>A:0.56,0.56:0.618922,0.618922 1 182502033 rs266535 G T 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3003,T/0.6997;Gene=RGSL1/NM_001137669.1/1;CC=c.2494+107G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:512:59.23:0.00:59.23:1.00:0.00:1.00:60:56.9:0:0:93:57:46:NM_001137669.1(RGSL1) c.2494+107G>T,NM_001137669.1(RGSL1) c.2494+107G>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 182509161 rs3843290 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5276,A/0.4724;Gene=RGSL1/NM_001137669.1/1;CC=c.2495-221G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:238:27.14:27.14:0.00:1.00:1.00:0.00:60:75.7:0:0:50:101:41:NM_001137669.1(RGSL1) c.2495-221G>A,NM_001137669.1(RGSL1) c.2495-221G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 1 182509269 rs266531 G A 103 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.2304,A/0.7696;Gene=RGSL1/NM_001137669.1/1;CC=c.2495-113G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:27:0:0:28:892:102.51:94.85:7.65:1.00:1.00:1.00:60:73.0:0:0:32:119:19:NM_001137669.1(RGSL1) c.2495-113G>A,NM_001137669.1(RGSL1) c.2495-113G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 182509292 rs3856115 A G 124 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.5278,G/0.4722;PC=0.001;Gene=RGSL1/NM_001137669.1/1;CC=c.2495-90A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G:39:36:0:0:39:1057:123.93:109.30:14.62:1.00:1.00:1.00:60:62.8:0:0:41:110:25:NM_001137669.1(RGSL1) c.2495-90A>G,NM_001137669.1(RGSL1) c.2495-90A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 182509557 . G . . NT END=182517451;NT GT ./. 1 182509617 rs3911280 C A 102 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=RGSL1/NM_001137669.1/1;CC=c.2669+61C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:10:0:0:27:896:102.47:25.75:76.72:1.00:1.00:1.00:60:61.9:0:0:105:45:21:NM_001137669.1(RGSL1) c.2669+61C>A,NM_001137669.1(RGSL1) c.2669+61C>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 182509646 rs12749557 T C 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5278,C/0.4722;Gene=RGSL1/NM_001137669.1/1;CC=c.2669+90T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:5:0:0:21:712:81.21:13.42:67.79:1.00:1.00:1.00:60:72.2:0:0:119:26:21:NM_001137669.1(RGSL1) c.2669+90T>C,NM_001137669.1(RGSL1) c.2669+90T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 182517238 rs9787011 C A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5196,A/0.4804;PC=0.015;Gene=RGSL1/NM_001137669.1/1;CC=c.2670-214C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:52.4:0:0:25:126:14:NM_001137669.1(RGSL1) c.2670-214C>A,NM_001137669.1(RGSL1) c.2670-214C>A:0.5,0.5:NOT_FOUND,NOT_FOUND 1 182517357 rs6657620 G C 98 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5196,A/.,C/0.4804;Gene=RGSL1/NM_001137669.1/1;CC=c.2670-95G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:25:0:0:27:855:98.33:87.21:11.12:1.00:1.00:1.00:60:44.1:0:0:39:112:29:NM_001137669.1(RGSL1) c.2670-95G>C,NM_001137669.1(RGSL1) c.2670-95G>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 182517591 . G . . NT END=182517834;NT GT ./. 1 182517960 . G . . NT END=182520234;NT GT ./. 1 182520345 . G . . NT END=182522589;NT GT ./. 1 182522677 . G . . NT END=182523761;NT GT ./. 1 182523829 . G . . NT END=182525158;NT GT ./. 1 182525193 . T . . NT END=182544552;NT GT ./. 1 182544714 . C . . NT END=182545390;NT GT ./. 1 182545221 rs672527 C T 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8544,T/0.1456;Gene=RNASEL/NM_021133.3/1;CC=c.2039+170G>A;VC=Intron;DM=RNASEL/Ribonuc_2-5A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:21:19:0:0:12,1,8:365,10,259:0.00,0.10,23.88:0.00,0.12,20.82:0.00,-0.02,3.06:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.68:60,60,60:13.6,120.0,38.4:0,0,0:0,0,0:32,71,71:119,80,79:22,0,40:-,NM_021133.3(RNASEL) c.2039+170G>A:-,0.17:-,NOT_FOUND 1 182545525 . C . . NT END=182548338;NT GT ./. 1 182545711 rs16859248 T C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8137,C/0.1863;PC=0.448;Gene=RNASEL/NM_021133.3/1;CC=c.1906-187A>G;VC=Intron;DM=RNASEL/Ribonuc_2-5A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:15:1:0:0:9,6:276,191:27.48,0.00:3.75,0.00:23.73,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:39.7,14.8:0,0:0,0:103,134:48,16:19,6:NM_021133.3(RNASEL) c.1906-187A>G,-:0.2,-:NOT_FOUND,- 1 182548379 rs672018 C T 238 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.002196,T/0.9978;PC=0.001;Gene=RNASEL/NM_021133.3/1;CC=c.1905+1981G>A;VC=Intron;DM=RNASEL/Ribonuc_2-5A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:T:67:56:0:0:67:2058:237.57:160.04:77.53:1.00:1.00:1.00:60:39.5:0:0:54:95:30:NM_021133.3(RNASEL) c.1905+1981G>A,NM_021133.3(RNASEL) c.1905+1981G>A:1,1:NOT_FOUND,NOT_FOUND 1 182548607 rs557934 C A 144 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.7778,A/0.2222;Gene=RNASEL/NM_021133.3/1;CC=c.1905+1753G>T;VC=Intron;DM=RNASEL/Ribonuc_2-5A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:118:83:0:0:49,69:1559,2208:144.48,0.00:71.68,0.00:72.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,5.6:0,0:0,0:87,68:64,70:43,33:NM_021133.3(RNASEL) c.1905+1753G>T,-:0.24,-:NOT_FOUND,- 1 182548886 . a . . NT END=182550359;NT GT ./. 1 182549019 rs533259 A G 52 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.126,G/0.874;Gene=RNASEL/NM_021133.3/1;CC=c.1905+1341T>C;VC=Intron;DM=RNASEL/Ribonuc_2-5A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:0:0:0:14:451:51.75:0.00:51.75:1.00:0.00:1.00:60:41.6:0:0:102:48:36:NM_021133.3(RNASEL) c.1905+1341T>C,NM_021133.3(RNASEL) c.1905+1341T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 182550200 rs501286 A G 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.002196,G/0.9978;NP=3205;Gene=RNASEL/NM_021133.3/1;CC=c.1905+160T>C;VC=Intron;DM=RNASEL/Ribonuc_2-5A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:G:28:28:0:0:28:762:89.32:89.32:0.00:1.00:1.00:0.00:60:33.9:0:0:41:108:34:NM_021133.3(RNASEL) c.1905+160T>C,NM_021133.3(RNASEL) c.1905+160T>C:1,1:NOT_FOUND,NOT_FOUND 1 182550493 . C . . NT END=182551187;NT GT ./. 1 182550594 . C T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;PC=0.019;Gene=RNASEL/NM_021133.3/1;CC=c.1773-102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,T:45:8:0:0:36,9:982,143:0.00,8.92:0.00,-0.58:0.00,9.50:0.00,0.99:0.00,0.79:0.00,1.00:60,60:19.8,110.9:0,0:0,0:121,66:28,85:17,19:-,NM_021133.3(RNASEL) c.1773-102G>A:-,NOT_FOUND:-,NOT_FOUND 1 182550608 rs71632154 C T 15 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.5266,T/0.4734;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=72;Gene=RNASEL/NM_021133.3/1;CC=c.1773-116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,C,G,T,I,D:37:6:5:8:1,17,1,7,4,7:8,445,13,180,145,200:-0.05,0.00,0.20,14.70,8.46,14.28:-0.05,0.00,0.34,-0.34,-0.19,-0.34:-0.00,0.00,-0.15,15.04,8.65,14.63:0.00,0.00,0.00,0.94,0.00,0.00:0.00,0.00,0.00,0.67,0.00,0.00:0.00,0.00,0.00,0.99,0.00,0.00:60,60,60,60,60,60:41.0,19.5,48.0,123.1,58.2,38.0:0,0,0,4,1,1:0,0,0,0,0,0:59,133,142,98,93,84:91,17,9,39,58,66:0,9,0,17,24,21:-,NM_021133.3(RNASEL) c.1773-116G>A:-,NOT_FOUND:-,NOT_FOUND 1 182551337 rs627928 A C 403 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.5202,C/0.4798;Gene=RNASEL/NM_021133.3/1;CC=c.1623T>G;ProtCh=p.D541E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:104:57:0:0:104:3538:403.37:155.19:248.18:1.00:1.00:1.00:60:41.7:0:0:84:66:33:NM_021133.3(RNASEL) c.1623T>G (p.Asp541Glu),NM_021133.3(RNASEL) c.1623T>G (p.Asp541Glu):0.52,0.52:0.472167,0.472167 1 182551394 . C . . NT END=182553215;NT GT ./. 1 182553302 . C . . NT END=182554461;NT GT ./. 1 182554330 rs78685194 G A 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.9926,A/0.007388;Gene=RNASEL/NM_021133.3/1;CC=c.1480+132C>T;VC=Intron;DM=RNASEL/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:33:0:0:11,22:352,743:31.33,0.00:31.33,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.6,13.9:0,0:0,0:54,40:97,110:30,21:NM_021133.3(RNASEL) c.1480+132C>T,-:0.01,-:NOT_FOUND,- 1 182554557 rs486907 C T 153 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=106;DB;DBA=in-clinvar;PAF=C/0.7694,T/0.2306;PC=0.001;Gene=RNASEL/NM_021133.3/1;CC=c.1385G>A;ProtCh=p.R462Q;VC=Missense;DM=RNASEL/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:80:0:0:57,49:1816,1619:0.00,153.48:0.00,70.82:0.00,82.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.7,43.1:0,0:0,0:77,48:74,103:35,32:-,NM_021133.3(RNASEL) c.1385G>A (p.Arg462Gln):-,0.24:-,0.280793 1 182555968 . T . . NT END=182569426;NT GT ./. 1 182556036 rs3738579 A G 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.7728,G/0.2272;Gene=RNASEL/NM_021133.3/1;CC=c.-95T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:49:13:0:0:27,22:838,692:0.00,65.02:0.00,7.83:0.00,57.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,54.5:0,0:0,0:113,109:31,41:20,20:-,NM_021133.3(RNASEL) c.-95T>C:-,0.24:-,NOT_FOUND 1 182569626 rs1144566 T C 257 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.01398,A/.,C/0.986,G/.;PC=0.982;Gene=RGS16/NM_002928.3/1;CC=c.410A>G;ProtCh=p.H137R;VC=Missense;DM=RGS16/RGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:43:0:0:72:2230:256.57:110.36:146.21:1.00:1.00:1.00:60:36.3:0:0:95:51:30:NM_002928.3(RGS16) c.410A>G (p.His137Arg),NM_002928.3(RGS16) c.410A>G (p.His137Arg):0.99,0.99:0.975012,0.975012 1 182569649 . C . . NT END=182571100;NT GT ./. 1 182571003 rs610367 C T 167 nt VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.4239,T/0.5761;Gene=RGS16/NM_002928.3/1;CC=c.387+98G>A;VC=Intron;DM=RGS16/RGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:T:48:47:0:0:48:1444:167.11:159.50:7.60:1.00:1.00:1.00:60:37.0:0:0:41:109:32:NM_002928.3(RGS16) c.387+98G>A,NM_002928.3(RGS16) c.387+98G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 182571268 . C . . NT END=182571554;NT GT ./. 1 182571620 . C . . NT END=182572363;NT GT ./. 1 182572475 . C . . NT END=182573350;NT GT ./. 1 182573135 rs114889394 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9854,A/0.01458;PC=0.873;Gene=RGS16/NM_002928.3/1;CC=c.44+216C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G,T:9:9:0:0:4,4,1:110,143,9:10.46,0.00,0.30:10.59,0.00,0.33:-0.13,0.00,-0.03:0.85,0.00,0.00:0.85,0.00,0.00:0.63,0.00,0.00:60,60,60:106.0,8.5,61.0:0,0,0:0,0,0:65,104,8:84,46,143:27,14,0:NM_002928.3(RGS16) c.44+216C>T,-:0.02,-:NOT_FOUND,- 1 182573227 rs509476 T C 106 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.007987,C/0.992;NP=913;Gene=RGS16/NM_002928.3/1;CC=c.44+124A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:29:0:0:29:917:105.52:103.54:1.99:1.00:1.00:1.00:60:39.7:0:0:33:118:24:NM_002928.3(RGS16) c.44+124A>G,NM_002928.3(RGS16) c.44+124A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 182573395 . G . . NT END=182615869;NT GT ./. 1 182616053 . C . . NT END=182617271;NT GT ./. 1 182617439 . C . . NT END=182635103;NT GT ./. 1 182635169 . C . . NT END=182636006;NT GT ./. 1 182636109 . C . . NT END=182638758;NT GT ./. 1 182638888 . C . . NT END=182640791;NT GT ./. 1 182640866 . C . . NT END=182640983;NT GT ./. 1 182641065 . A . . NT END=182641953;NT GT ./. 1 182641960 . G . . NT END=182763506;NT GT ./. 1 182763575 . G . . NT END=182772832;NT GT ./. 1 182772804 rs61010723 A C 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.8201,C/0.1799;PC=0.002;Gene=NPL/NM_001200050.1/0;CC=c.-288-29A>C;VC=Intron;Gene=NPL/NM_001200051.1/0;CC=c.69-29A>C;VC=Intron;Gene=NPL/NM_001200052.1/0;CC=c.69-29A>C;VC=Intron;Gene=NPL/NM_001200056.1/0;CC=c.69-29A>C;VC=Intron;Gene=NPL/NM_030769.2/1;CC=c.69-29A>C;VC=Intron;DM=NPL/DHDPS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:36:31:0:0:22,14:727,460:0.00,42.22:0.00,22.76:0.00,19.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,39.2:0,0:0,0:45,46:97,96:26,18:-,NM_030769.2(NPL) c.69-29A>C:-,0.16:-,0.15526 1 182772907 . G . . NT END=182775279;NT GT ./. 1 182775667 . G . . NT END=182781290;NT GT ./. 1 182781349 . G . . NT END=182783917;NT GT ./. 1 182783994 . G . . NT END=182785848;NT GT ./. 1 182784022 rs2275171 T C 142 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.4159,C/0.5841;Gene=NPL/NM_001200050.1/0;CC=c.307+29T>C;VC=Intron;Gene=NPL/NM_001200051.1/0;CC=c.364+29T>C;VC=Intron;Gene=NPL/NM_001200052.1/0;CC=c.364+29T>C;VC=Intron;Gene=NPL/NM_001200056.1/0;CC=c.364+29T>C;VC=Intron;Gene=NPL/NM_030769.2/1;CC=c.364+29T>C;VC=Intron;DM=NPL/DHDPS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:21:0:0:38:1238:141.89:50.35:91.54:1.00:1.00:1.00:60:34.3:0:0:113:31:25:NM_030769.2(NPL) c.364+29T>C,NM_030769.2(NPL) c.364+29T>C:0.56,0.56:0.632554,0.632554 1 182785942 . G . . NT END=182787675;NT GT ./. 1 182787825 . G . . NT END=182787947;NT GT ./. 1 182787995 . G . . NT END=182791249;NT GT ./. 1 182791335 . G . . NT END=182794915;NT GT ./. 1 182794901 rs397704260 G GT 20 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7296,GT/0.2704;DB;DBA=NA;PAF=G/0.7296,GT/0.2704;NP=706;PC=0.644;Gene=NPL/NM_001200050.1/0;CC=c.682-13dupT;VC=Intron;Gene=NPL/NM_001200051.1/0;CC=c.607-13dupT;VC=Intron;Gene=NPL/NM_001200052.1/0;CC=c.654-13dupT;VC=Intron;Gene=NPL/NM_001200056.1/0;CC=c.739-13dupT;VC=Intron;Gene=NPL/NM_030769.2/1;CC=c.739-13dupT;VC=Intron;DM=NPL/DHDPS;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:19:16:7:0:12,7:414,221:0.00,20.01:0.00,12.20:0.00,7.81:0.00,0.98:0.00,1.00:0.00,0.97:60,60:2.4,4.6:0,0:0,0:31,34:94,117:21,19:-,NM_030769.2(NPL) c.739-15_739-14insT:-,0.23:-,0.242732 1 182794956 . G . . NT END=182797858;NT GT ./. 1 182798081 rs41272518 T C 124 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.8682,C/0.1318;Gene=NPL/NM_001200050.1/0;CC=c.*38T>C;VC=3UTR;Gene=NPL/NM_001200051.1/0;CC=c.647-657T>C;VC=Intron;Gene=NPL/NM_001200052.1/0;CC=c.*223T>C;VC=3UTR;Gene=NPL/NM_001200056.1/0;CC=c.779-657T>C;VC=Intron;Gene=NPL/NM_030769.2/1;CC=c.*38T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:81:50:0:0:39,1,41:1291,11,1294:123.65,-0.07,0.00:73.35,0.06,0.00:50.30,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.0,73.0,9.8:0,0,0:0,0,0:53,118,83:93,31,61:26,0,37:NM_030769.2(NPL) c.*38T>C,-:0.11,-:0.095278,- 1 182798203 . T C 118 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=71;PC=0.001;Gene=NPL/NM_001200050.1/0;CC=c.*160T>C;VC=3UTR;Gene=NPL/NM_001200051.1/0;CC=c.647-535T>C;VC=Intron;Gene=NPL/NM_001200052.1/0;CC=c.*345T>C;VC=3UTR;Gene=NPL/NM_001200056.1/0;CC=c.779-535T>C;VC=Intron;Gene=NPL/NM_030769.2/1;CC=c.*160T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:52:0:0:36,35:1222,1123:117.99,0.00:67.93,0.00:50.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,10.0:0,0:0,0:63,82:88,68:30,40:NM_030769.2(NPL) c.*160T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 182798815 . G . . NT END=182811701;NT GT ./. 1 182798924 rs1045971 G T 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7306,T/0.2694;PC=0.077;Gene=NPL/NM_001200050.1/0;CC=c.*881G>T;VC=3UTR;Gene=NPL/NM_001200051.1/0;CC=c.*110G>T;VC=3UTR;Gene=NPL/NM_001200052.1/0;CC=c.*1066G>T;VC=3UTR;Gene=NPL/NM_001200056.1/0;CC=c.*110G>T;VC=3UTR;Gene=NPL/NM_030769.2/1;CC=c.*881G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:G,T:12:0:0:0:4,8:135,268:0.00,27.30:0.00,0.00:0.00,27.30:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.8,47.2:0,0:0,0:131,75:18,61:12,16:-,NM_030769.2(NPL) c.*881G>T:-,0.23:-,NOT_FOUND 1 182811813 . G . . NT END=182812428;NT GT ./. 1 182812410 rs376728056 CT C 29 idl,rn VT=DEL;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=94;PC=0.210;Gene=DHX9/NM_001357.4/1;CC=c.112-5delT;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:CT,I,C:62:53:6:13:45,6,11:1410,194,415:0.00,14.18,28.96:0.00,12.46,11.70:0.00,1.72,17.26:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:17.8,17.0,11.4:0,0,2:0,0,0:64,75,64:83,67,85:37,31,30:-,NM_001357.4(DHX9) c.112-18delT:-,NOT_FOUND:-,0.217217 1 182812570 . G . . NT END=182821367;NT GT ./. 1 182812584 rs6704129 C T 99 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.8209,T/0.1791;Gene=DHX9/NM_001357.4/1;CC=c.252+15C>T;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:34:0:0:42,32:1267,1052:0.00,98.51:0.00,36.62:0.00,61.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,35.9:0,0:0,0:103,90:45,57:30,25:-,NM_001357.4(DHX9) c.252+15C>T:-,0.16:-,0.148621 1 182821480 . G . . NT END=182822440;NT GT ./. 1 182821698 rs2275175 C A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7308,A/0.2692;PC=0.239;Gene=DHX9/NM_001357.4/1;CC=c.364+219C>A;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C:6:1:0:0:3,3:99,104:9.52,0.00:-0.30,0.00:9.83,0.00:0.73,0.00:0.67,0.00:0.96,0.00:60,60:33.0,0.0:0,0:0,0:122,48:28,100:5,21:NM_001357.4(DHX9) c.364+219C>A,-:0.23,-:NOT_FOUND,- 1 182822367 rs75306569 A G 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.8676,G/0.1324;Gene=DHX9/NM_001357.4/1;CC=c.365-74A>G;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:27:0:0:14,15:409,498:0.00,48.22:0.00,45.35:0.00,2.87:0.00,1.00:0.00,1.00:0.00,0.95:60,60:23.5,41.6:0,0:0,0:36,53:113,98:28,33:-,NM_001357.4(DHX9) c.365-74A>G:-,0.11:-,NOT_FOUND 1 182822554 . G . . NT END=182823164;NT GT ./. 1 182823314 . G . . NT END=182824711;NT GT ./. 1 182824849 . G . . NT END=182825666;NT GT ./. 1 182825714 . G . . NT END=182827238;NT GT ./. 1 182825748 rs3737219 C T 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.7302,T/0.2698;PC=0.002;Gene=DHX9/NM_001357.4/1;CC=c.673+35C>T;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:17:0:0:17,19:580,588:0.00,57.02:0.00,6.97:0.00,50.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,33.9:0,0:0,0:105,105:46,46:11,33:-,NM_001357.4(DHX9) c.673+35C>T:-,0.23:-,0.227189 1 182827376 . G . . NT END=182827685;NT GT ./. 1 182827776 . G . . NT END=182827867;NT GT ./. 1 182828030 . G . . NT END=182828174;NT GT ./. 1 182828253 . G . . NT END=182829127;NT GT ./. 1 182829320 . G . . NT END=182835578;NT GT ./. 1 182835721 . G . . NT END=182836095;NT GT ./. 1 182836179 . G . . NT END=182841471;NT GT ./. 1 182836230 rs74129612 G T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.8852,T/0.1148;Gene=DHX9/NM_001357.4/1;CC=c.1557+52G>T;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:5:0:0:14,11:484,333:0.00,31.09:0.00,5.91:0.00,25.18:0.00,1.00:0.00,0.94:0.00,1.00:60,60:0.9,44.8:0,0:0,0:96,119:49,32:21,22:-,NM_001357.4(DHX9) c.1557+52G>T:-,0.09:-,0.072727 1 182841629 . G . . NT END=182843988;NT GT ./. 1 182841860 rs10911153 G C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7306,C/0.2694;Gene=DHX9/NM_001357.4/1;CC=c.1714+232G>C;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,G:6:0:0:0:4,2:131,63:13.35,0.00:0.00,0.00:13.35,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:35.5,3.5:0,0:0,0:65,101:85,49:6,1:NM_001357.4(DHX9) c.1714+232G>C,-:0.23,-:NOT_FOUND,- 1 182844020 rs11332 C T 36 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8203,T/0.1797;PC=0.993;Gene=DHX9/NM_001357.4/1;CC=c.1746C>T;ProtCh=p.T582=;VC=Silent;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:16:0:0:13,11:412,377:0.00,35.76:0.00,23.47:0.00,12.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,36.4:0,0:0,0:69,45:71,106:33,32:-,NM_001357.4(DHX9) c.1746C>T (p.(=)):-,0.16:-,0.148633 1 182844090 . g . . NT END=182845184;NT GT ./. 1 182845399 . G . . NT END=182845581;NT GT ./. 1 182845677 . G . . NT END=182845964;NT GT ./. 1 182845701 rs41312714 G A 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.8674,A/0.1326;Gene=DHX9/NM_001357.4/1;CC=c.2124+25G>A;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:21:0:0:21,15:647,450:64.12,0.00:34.16,0.00:29.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,3.0:0,0:0,0:106,97:44,53:25,23:NM_001357.4(DHX9) c.2124+25G>A,-:0.11,-:0.091323,- 1 182846039 . G . . NT END=182847155;NT GT ./. 1 182846206 rs59803054 A AT 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7296,AT/0.2704;DB;DBA=NA;PAF=A/0.7296,AT/0.2704;NP=151;Gene=DHX9/NM_001357.4/1;CC=c.2198+170dupT;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,AT:7:0:3:0:4,3:113,98:0.00,9.16:0.00,0.00:0.00,9.16:0.00,0.69:0.00,0.00:0.00,0.69:60,60:3.0,0.0:0,0:0,0:125,107:25,44:19,3:-,NM_001357.4(DHX9) c.2198+168_2198+169insT:-,0.23:-,NOT_FOUND 1 182847309 . G . . NT END=182848384;NT GT ./. 1 182848546 . G . . NT END=182849631;NT GT ./. 1 182848710 rs7536061 A G 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8888,G/0.1112;PC=0.002;Gene=DHX9/NM_001357.4/1;CC=c.2512+165A>G;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:13:0:0:0:6,7:189,241:0.00,23.54:0.00,0.00:0.00,23.54:0.00,0.99:0.00,0.00:0.00,0.99:60,60:21.7,40.7:0,0:0,0:126,95:24,56:14,34:-,NM_001357.4(DHX9) c.2512+165A>G:-,0.09:-,NOT_FOUND 1 182849744 . G . . NT END=182850398;NT GT ./. 1 182849834 rs146667415 CA C 23 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CA/0.87,C/0.13;NP=175;Gene=DHX9/NM_001357.4/1;CC=c.2624+101delA;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:18:0:0:9:10,8:250,279:0.00,23.07:0.00,0.00:0.00,23.07:0.00,0.99:0.00,0.00:0.00,0.99:60,60:10.1,3.1:0,1:0,0:96,102:54,49:38,24:-,NM_001357.4(DHX9) c.2624+92delA:-,NOT_FOUND:-,NOT_FOUND 1 182850561 . G . . NT END=182850654;NT GT ./. 1 182850727 rs6677840 T C 223 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.01538,C/0.9846;PC=0.890;Gene=DHX9/NM_001357.4/1;CC=c.2859T>C;ProtCh=p.T953=;VC=Silent;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C:61:31:0:0:61:1939:222.85:87.89:134.97:1.00:1.00:1.00:60:37.7:0:0:76:72:33:NM_001357.4(DHX9) c.=,NM_001357.4(DHX9) c.=:0.99,0.99:0.987388,0.987388 1 182850783 . G . . NT END=182852273;NT GT ./. 1 182852504 . G . . NT END=182852654;NT GT ./. 1 182852771 . G . . NT END=182853747;NT GT ./. 1 182853949 . G . . NT END=182856217;NT GT ./. 1 182854017 rs3130492 G A 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.2161,A/0.7839;Gene=DHX9/NM_001357.4/1;CC=c.3461+69G>A;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:4:0:0:14,14:456,459:43.85,0.00:2.47,0.00:41.38,0.00:1.00,0.00:0.51,0.00:1.00,0.00:60,60:41.8,2.8:0,0:0,0:74,91:77,59:42,27:NM_001357.4(DHX9) c.3461+69G>A,-:0.76,-:NOT_FOUND,- 1 182854200 rs4275414 G A 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7296,A/0.2704;Gene=DHX9/NM_001357.4/1;CC=c.3461+252G>A;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:0:0:0:3,2:75,69:7.45,0.00:0.00,0.00:7.45,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:25.0,0.0:0,0:0,0:139,72:11,79:4,13:NM_001357.4(DHX9) c.3461+252G>A,-:0.23,-:NOT_FOUND,- 1 182856140 rs58683831 CTA C 36 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=377;Gene=DHX9/NM_001357.4/1;CC=c.3462-77_3462-76delTA;VC=Intron;Gene=DHX9/NR_033302.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTA,C:35:34:0:13:22,13:716,402:0.00,36.38:0.00,35.01:0.00,1.37:0.00,1.00:0.00,1.00:0.00,0.67:60,70:5.6,11.5:0,0:0,0:51,34:99,117:33,19:-,NM_001357.4(DHX9) c.3462-77_3462-76delTA:-,0.11:-,NOT_FOUND 1 182856570 . A . . NT END=182869117;NT GT ./. 1 182869370 . C . . NT END=182872173;NT GT ./. 1 182872297 . C . . NT END=182873314;NT GT ./. 1 182873566 . C . . NT END=182874630;NT GT ./. 1 182873669 rs71895744 CGT C 8 rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=SHCBP1L/NM_030933.2/1;CC=c.1337-106_1337-105delAC;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:CGT,T,I,C:33:9:1:4:24,4,1,4:673,66,33,115:0.00,3.64,1.94,8.41:0.00,-0.33,-0.08,3.16:0.00,3.97,2.02,5.25:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.63:0.00,0.00,0.00,0.92:60,60,60,60:17.9,34.0,0.0,45.2:0,0,0,0:0,0,0,0:110,37,72,53:35,98,79,97:18,6,0,30:-,NM_030933.2(SHCBP1L) c.1337-106_1337-105delAC:-,NOT_FOUND:-,NOT_FOUND 1 182874785 . C . . NT END=182898781;NT GT ./. 1 182898888 . C . . NT END=182908310;NT GT ./. 1 182908530 . C . . NT END=182908601;NT GT ./. 1 182908689 . C . . NT END=182909463;NT GT ./. 1 182909679 . C . . NT END=182920452;NT GT ./. 1 182920346 rs57065175 TA T 35 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=TA/0.7296,T/0.2704;NP=332;Gene=SHCBP1L/NM_030933.2/1;CC=c.555+106delT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:24:22:0:12:12,12:320,369:0.00,35.43:0.00,33.05:0.00,2.38:0.00,1.00:0.00,1.00:0.00,0.79:60,60:4.1,4.0:0,0:0,0:27,21:123,129:22,16:-,NM_030933.2(SHCBP1L) c.555+106delT:-,0.23:-,NOT_FOUND 1 182920603 . C . . NT END=182921863;NT GT ./. 1 182920665 rs552268908 G GT 7 idl,rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9958,T/0.004193;NP=2;NP=3;PC=0.004;Gene=SHCBP1L/NM_030933.2/1;CC=c.406-64dupA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:G,T,GT,D:30:14:5:4:24,1,3,2:800,10,142,132:0.00,-0.06,6.91,4.36:0.00,-0.07,6.24,-1.47:0.00,0.01,0.67,5.83:0.00,0.00,0.40,0.00:0.00,0.00,0.63,0.00:0.00,0.00,0.85,0.00:60,60,60,60:34.2,72.0,46.3,17.0:0,0,2,2:0,0,0,0:94,83,73,122:45,43,78,28:29,0,32,6:-,NM_030933.2(SHCBP1L) c.406-64_406-63insA:-,NOT_FOUND:-,NOT_FOUND 1 182920712 rs6424877 G T 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8716,T/0.1284;Gene=SHCBP1L/NM_030933.2/1;CC=c.406-110C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:2:0:0:13,9:420,257:0.00,23.52:0.00,3.83:0.00,19.69:0.00,1.00:0.00,0.71:0.00,1.00:60,60:25.0,58.4:0,0:0,0:102,111:49,38:28,17:-,NM_030933.2(SHCBP1L) c.406-110C>A:-,0.11:-,NOT_FOUND 1 182922215 rs78487548 G T 277 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=205;DB;DBA=NA;PAF=G/0.9251,C/.,T/0.07488;PC=0.974;Gene=SHCBP1L/NM_030933.2/1;CC=c.54C>A;ProtCh=p.S18R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:205:119:0:0:1,1,105,98:7,9,3397,2918:-0.20,-0.19,0.00,277.41:-0.08,-0.10,0.00,110.45:-0.13,-0.09,0.00,166.96:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:232.0,28.0,12.6,40.8:0,0,0,0:0,0,0,0:64,60,67,70:75,91,78,80:0,0,39,40:-,NM_030933.2(SHCBP1L) c.54C>A (p.Ser18Arg):-,0.06:-,0.028662 1 182922269 . C . . NT END=182992851;NT GT ./. 1 182993025 rs10911194 C T 287 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=184;DB;DBA=NA;PAF=C/0.4804,T/0.5196;PC=0.972;Gene=LAMC1/NM_002293.3/1;CC=c.174C>T;ProtCh=p.A58=;VC=Silent;DM=LAMC1/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:184:129:0:0:90,1,93:2962,5,2982:0.00,-0.18,287.38:0.00,-0.09,155.50:0.00,-0.10,131.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.6,19.0,37.8:0,0,0:0,0,0:66,90,75:79,61,68:39,0,43:-,NM_002293.3(LAMC1) c.174C>T (p.(=)):-,0.52:-,0.480547 1 182993270 . G . . NT END=183072462;NT GT ./. 1 182993438 rs10911195 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4804,C/0.5196;Gene=LAMC1/NM_002293.3/1;CC=c.418+169T>C;VC=Intron;DM=LAMC1/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:16:0:0:0:7,9:143,309:12.73,0.00:0.00,0.00:12.73,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:54.7,0.0:0,0:0,0:81,93:70,58:17,31:NM_002293.3(LAMC1) c.418+169T>C,-:0.52,-:NOT_FOUND,- 1 183072590 rs2296288 T C 102 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.4681,C/0.5319;Gene=LAMC1/NM_002293.3/1;CC=c.546T>C;ProtCh=p.C182=;VC=Silent;DM=LAMC1/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:90:62:0:0:34,1,55:1111,12,1768:101.58,-0.09,0.00:59.91,0.03,0.00:41.67,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.1,12.0,8.4:0,0,0:0,0,0:53,143,64:98,7,84:33,0,27:NM_002293.3(LAMC1) c.546T>C (p.(=)),-:0.53,-:0.505151,- 1 183072768 . G . . NT END=183077410;NT GT ./. 1 183072908 rs10797835 T C 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4687,C/0.5313;Gene=LAMC1/NM_002293.3/1;CC=c.723+141T>C;VC=Intron;DM=LAMC1/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:11,11:309,351:29.47,0.00:0.00,0.00:29.47,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:29.7,5.4:0,0:0,0:95,117:55,34:32,19:NM_002293.3(LAMC1) c.723+141T>C,-:0.53,-:NOT_FOUND,- 1 183077296 rs3835273 A AG 35 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.4687,AG/0.5313;Gene=LAMC1/NM_002293.3/1;CC=c.724-115_724-114insG;VC=Intron;DM=LAMC1/Laminin_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,AG:17:16:11:0:6,11:191,346:0.00,35.05:0.00,35.50:0.00,-0.45:0.00,1.00:0.00,1.00:0.00,0.76:60,60:1.8,16.9:0,0:0,0:32,46:118,105:26,33:-,NM_002293.3(LAMC1) c.724-115_724-114insG:-,0.53:-,NOT_FOUND 1 183077542 . G . . NT END=183079622;NT GT ./. 1 183077615 rs3765521 C T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4948,T/0.5052;Gene=LAMC1/NM_002293.3/1;CC=c.854+74C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:9:0:0:10,10:340,270:0.00,25.63:0.00,3.56:0.00,22.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,97.4:0,0:0,0:125,73:24,77:16,34:-,NM_002293.3(LAMC1) c.854+74C>T:-,0.51:-,NOT_FOUND 1 183077618 rs3765522 C T 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4683,T/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.854+77C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:19:8:0:0:1,8,10:9,278,290:0.12,0.00,28.35:-0.09,0.00,3.70:0.22,0.00,24.65:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:52.0,0.0,97.4:0,0,0:0,0,0:142,128,76:9,21,74:0,5,34:-,NM_002293.3(LAMC1) c.854+77C>T:-,0.53:-,NOT_FOUND 1 183079376 rs3818417 G A 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4683,A/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.855-247G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:5:5:0:0:3,2:86,66:8.57,0.00:8.57,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:79.3,0.0:0,0:0,0:31,73:120,77:1,65:NM_002293.3(LAMC1) c.855-247G>A,-:0.53,-:NOT_FOUND,- 1 183079412 rs2296290 C T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4683,T/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.855-211C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:5:5:0:0:1,4:34,109:0.00,11.65:0.00,11.65:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,76.8:0,0:0,0:44,53:106,97:0,14:-,NM_002293.3(LAMC1) c.855-211C>T:-,0.53:-,NOT_FOUND 1 183079509 rs2296291 C T 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.4683,T/0.5317;PC=0.002;Gene=LAMC1/NM_002293.3/1;CC=c.855-114C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:18:18:0:0:5,13:160,455:0.00,47.08:0.00,47.08:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.2,50.2:0,0:0,0:65,59:85,92:50,24:-,NM_002293.3(LAMC1) c.855-114C>T:-,0.53:-,NOT_FOUND 1 183079790 . G . . NT END=183083665;NT GT ./. 1 183079853 rs6672093 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.495,C/0.505;Gene=LAMC1/NM_002293.3/1;CC=c.1021+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:13:0:0:18,19:560,613:53.46,0.00:9.54,0.00:43.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,9.7:0,0:0,0:111,91:40,60:20,29:NM_002293.3(LAMC1) c.1021+64T>C,-:0.51,-:NOT_FOUND,- 1 183083855 . G . . NT END=183084654;NT GT ./. 1 183084607 rs3736888 A G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4696,G/0.5304;Gene=LAMC1/NM_002293.3/1;CC=c.1211-48A>G;VC=Intron;DM=LAMC1/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:26:26:0:0:16,1,9:497,12,292:0.00,0.16,26.39:0.00,0.16,22.97:0.00,-0.01,3.42:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.74:60,60,60:2.5,65.0,79.2:0,0,0:0,0,0:60,107,54:91,44,97:31,0,30:-,NM_002293.3(LAMC1) c.1211-48A>G:-,0.45:-,0.035138 1 183084608 rs2027082 C A 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4696,A/0.5304;Gene=LAMC1/NM_002293.3/1;CC=c.1211-47C>A;VC=Intron;DM=LAMC1/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:26:0:0:9,17:303,551:27.32,0.00:23.89,0.00:3.42,0.00:0.99,0.00:0.99,0.00:0.74,0.00:60,60:79.6,6.2:0,0:0,0:52,61:99,90:33,34:NM_002293.3(LAMC1) c.1211-47C>A,-:0.45,-:0.048362,- 1 183084773 . G . . NT END=183085711;NT GT ./. 1 183085568 rs6424887 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4683,T/0.5317;PC=0.001;Gene=LAMC1/NM_002293.3/1;CC=c.1329-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:7:7:0:0:4,3:138,86:0.00,7.95:0.00,7.95:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:2.8,32.7:0,0:0,0:90,101:60,49:6,18:-,NM_002293.3(LAMC1) c.1329-144C>T:-,0.52:-,NOT_FOUND 1 183085611 rs397937384 C CA 9 end,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4653,CA/0.3462,CAA/0.1885;DB;DBA=NA;PAF=C/0.4653,CA/0.3462;NP=324;NP=9;PC=0.015;Gene=LAMC1/NM_002293.3/1;CC=c.1329-88_1329-87insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,CA,D:11:11:3:2:6,3,2:205,96,62:0.00,8.51,5.15:0.00,8.58,5.20:0.00,-0.07,-0.04:0.00,0.60,0.00:0.00,0.60,0.00:0.00,0.52,0.00:60,60,60:17.0,20.7,16.0:0,0,0:0,0,0:133,5,69:17,146,81:10,3,24:-,NM_002293.3(LAMC1) c.1329-101_1329-100insA:-,NOT_FOUND:-,NOT_FOUND 1 183085696 rs6424888 A G 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.4698,G/0.5302;Gene=LAMC1/NM_002293.3/1;CC=c.1329-16A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:30:0:0:18,16:587,496:0.00,47.03:0.00,34.20:0.00,12.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,62.1:0,0:0,0:54,36:93,110:32,25:-,NM_002293.3(LAMC1) c.1329-16A>G:-,0.53:-,0.503152 1 183085755 rs20563 A G 72 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4683,G/0.5317;PC=0.002;Gene=LAMC1/NM_002293.3/1;CC=c.1372A>G;ProtCh=p.I458V;VC=Missense;DM=LAMC1/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:42:0:0:24,22:788,757:0.00,72.37:0.00,54.32:0.00,18.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,59.4:0,0:0,0:59,69:86,72:37,26:-,NM_002293.3(LAMC1) c.1372A>G (p.Ile458Val):-,0.53:-,0.50346 1 183085811 . G . . NT END=183085901;NT GT ./. 1 183086039 . G . . NT END=183086454;NT GT ./. 1 183086056 rs182421653 C T 58 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9978,T/0.002196;NP=43;Gene=LAMC1/NM_002293.3/1;CC=c.1564+18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:12:0:0:25,19:765,625:0.00,58.49:0.00,19.70:0.00,38.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,37.7:0,0:0,0:108,82:43,67:17,32:-,NM_002293.3(LAMC1) c.1564+18C>T:-,0.0018:-,0.005075 1 183086190 rs10911253 T C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6633,C/0.3367;PC=0.971;Gene=LAMC1/NM_002293.3/1;CC=c.1564+152T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,C,T:17:5:0:0:1,3,13:9,105,424:-0.01,8.58,0.00:-0.11,2.89,0.00:0.10,5.69,0.00:0.00,0.53,0.00:0.00,0.61,0.00:0.00,0.85,0.00:60,60,60:135.0,44.7,12.4:0,0,0:0,0,0:75,112,84:45,39,67:0,33,27:NM_002293.3(LAMC1) c.1564+152T>C,-:0.37,-:NOT_FOUND,- 1 183086238 rs10752900 G A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4681,A/0.5319;Gene=LAMC1/NM_002293.3/1;CC=c.1564+200G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:12:7:0:0:3,9:88,275:7.31,0.00:4.93,0.00:2.38,0.00:0.59,0.00:0.84,0.00:0.75,0.00:60,60:76.0,0.0:0,0:0,0:91,95:59,56:32,22:NM_002293.3(LAMC1) c.1564+200G>A,-:0.53,-:NOT_FOUND,- 1 183086578 . G . . NT END=183086668;NT GT ./. 1 183086757 rs2296292 A C 100 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.4683,C/0.5317;PC=0.993;Gene=LAMC1/NM_002293.3/1;CC=c.1776A>C;ProtCh=p.A592=;VC=Silent;DM=LAMC1/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:80:46:0:0:46,34:1583,1073:0.00,99.83:0.00,41.65:0.00,58.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,34.4:0,0:0,0:59,109:91,41:18,29:-,NM_002293.3(LAMC1) c.1776A>C (p.(=)):-,0.53:-,0.503537 1 183086859 . G . . NT END=183087168;NT GT ./. 1 183087282 . G . . NT END=183090857;NT GT ./. 1 183090751 rs2333621 A G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.4683,G/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.1991-107A>G;VC=Intron;DM=LAMC1/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:28:0:0:16,12:490,369:0.00,34.32:0.00,34.32:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.2,35.4:0,0:0,0:60,53:90,97:26,26:-,NM_002293.3(LAMC1) c.1991-107A>G:-,0.53:-,NOT_FOUND 1 183091080 . G . . NT END=183091197;NT GT ./. 1 183091387 . G . . NT END=183093765;NT GT ./. 1 183093875 rs20557 T C 215 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.4683,A/.,C/0.5317,G/.;PC=0.001;Gene=LAMC1/NM_002293.3/1;CC=c.2511T>C;ProtCh=p.N837=;VC=Silent;DM=LAMC1/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:149:98:0:0:71,78:2262,2498:215.17,0.00:103.75,0.00:111.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,6.2:0,0:0,0:99,66:48,82:31,37:NM_002293.3(LAMC1) c.2511T>C (p.(=)),-:0.53,-:0.50346,- 1 183094012 . G . . NT END=183094531;NT GT ./. 1 183094191 rs2093982 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.4685,C/0.5315;Gene=LAMC1/NM_002293.3/1;CC=c.2647+180T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:C,T:14:0:0:0:6,8:176,253:16.31,0.00:0.00,0.00:16.31,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:51.7,0.0:0,0:0,0:94,93:56,57:41,23:NM_002293.3(LAMC1) c.2647+180T>C,-:0.53,-:NOT_FOUND,- 1 183094210 rs2093983 T C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4683,C/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.2647+199T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:C,T:11:0:0:0:4,7:84,226:7.16,0.00:0.00,0.00:7.16,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:58.2,0.0:0,0:0,0:74,100:76,50:14,34:NM_002293.3(LAMC1) c.2647+199T>C,-:0.53,-:NOT_FOUND,- 1 183094314 rs2093984 T C 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4383,C/0.5617;Gene=LAMC1/NM_002293.3/1;CC=c.2648-218T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:13:0:0:7,9:196,291:18.16,0.00:18.91,0.00:-0.75,0.00:0.98,0.00:1.00,0.00:0.84,0.00:60,60:75.9,0.0:0,0:0,0:64,45:87,105:25,38:NM_002293.3(LAMC1) c.2648-218T>C,-:0.56,-:NOT_FOUND,- 1 183094322 rs2093985 C T 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4924,T/0.5076;Gene=LAMC1/NM_002293.3/1;CC=c.2648-210C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:14:0:0:10,7:329,221:0.00,20.44:0.00,21.13:0.00,-0.69:0.00,0.98:0.00,1.00:0.00,0.81:60,60:0.0,75.9:0,0:0,0:48,72:102,79:39,25:-,NM_002293.3(LAMC1) c.2648-210C>T:-,0.52:-,NOT_FOUND 1 183094418 rs5779155 A AC 31 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.4685,AC/0.5315;DB;DBA=NA;PAF=A/0.4685,AC/0.5315;NP=2121;Gene=LAMC1/NM_002293.3/1;CC=c.2648-113_2648-112insC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AC:25:21:11:0:14,11:452,334:0.00,31.20:0.00,25.46:0.00,5.74:0.00,1.00:0.00,1.00:0.00,0.90:60,60:8.3,25.4:1,0:0,0:97,69:53,82:28,35:-,NM_002293.3(LAMC1) c.2648-114_2648-113insC:-,0.53:-,NOT_FOUND 1 183094547 rs20558 T C 127 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.4683,C/0.5317;PC=1.000;Gene=LAMC1/NM_002293.3/1;CC=c.2663T>C;ProtCh=p.L888P;VC=Missense;DM=LAMC1/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:78:61:0:0:41,37:1305,1221:126.64,0.00:69.75,0.00:56.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,1.5:0,0:0,0:60,57:88,88:29,45:NM_002293.3(LAMC1) c.2663T>C (p.Leu888Pro),-:0.53,-:0.50346,- 1 183094686 . G . . NT END=183095254;NT GT ./. 1 183094802 rs10797850 G A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6635,A/0.3365;PC=0.006;Gene=LAMC1/NM_002293.3/1;CC=c.2801+117G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:3:0:0:9,13:280,426:25.81,0.00:5.06,0.00:20.76,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:49.4,1.7:0,0:0,0:69,123:82,27:24,17:NM_002293.3(LAMC1) c.2801+117G>A,-:0.37,-:NOT_FOUND,- 1 183095185 rs571023420 TAA T 38 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=593;Gene=LAMC1/NM_002293.3/1;CC=c.2802-57_2802-56delAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TAA,I,T:25:30:1:21:1,10,1,13:29,302,33,631:1.73,0.00,2.13,38.28:1.75,0.00,2.15,28.89:-0.03,0.00,-0.03,9.39:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:29.0,20.4,0.0,53.8:0,0,0,8:0,0,0,0:0,46,52,35:151,104,99,108:0,24,0,16:-,NM_002293.3(LAMC1) c.2802-69_2802-68delAA:-,NOT_FOUND:-,NOT_FOUND 1 183095234 rs1886501 A G 114 nt VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.4683,G/0.5317;PC=0.058;Gene=LAMC1/NM_002293.3/1;CC=c.2802-21A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:74:69:0:0:38,36:1223,1193:0.00,114.16:0.00,88.94:0.00,25.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,37.8:0,0:0,0:31,48:109,96:15,22:-,NM_002293.3(LAMC1) c.2802-21A>G:-,0.53:-,0.503383 1 183095398 . G . . NT END=183096360;NT GT ./. 1 183095477 rs2296293 G A 79 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.4683,A/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.2944+80G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:51:17:0:0:28,22,1:809,740,11:79.32,0.00,0.03:17.00,0.00,-0.05:62.32,0.00,0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.6,19.3,25.0:0,0,0:0,0,0:101,111,140:49,39,10:27,17,0:NM_002293.3(LAMC1) c.2944+80G>A,-:0.53,-:NOT_FOUND,- 1 183095596 rs2296294 T C 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4683,C/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.2944+199T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:13,9:377,246:37.46,0.00:0.00,0.00:37.46,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:47.5,25.3:0,0:0,0:133,64:18,86:13,44:NM_002293.3(LAMC1) c.2944+199T>C,-:0.53,-:NOT_FOUND,- 1 183095765 rs2224933 A G 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4685,G/0.5315;Gene=LAMC1/NM_002293.3/1;CC=c.2944+368A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:4:0:0:0:2,2:61,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:5.0,39.0:0,0:0,0:92,108:58,42:56,18:-,NM_002293.3(LAMC1) c.2944+368A>G:-,0.53:-,NOT_FOUND 1 183096253 rs3066017 T TATA 28 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4683,TAAT/.,TATA/0.5317;NP=997;Gene=LAMC1/NM_002293.3/1;CC=c.2945-106_2945-105insAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TATA:21:21:9:0:12,9:376,297:0.00,27.77:0.00,27.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.2,0.0:0,0:0,0:97,52:53,99:42,41:-,NM_002293.3(LAMC1) c.2945-108_2945-107insATA:-,NOT_FOUND:-,NOT_FOUND 1 183096540 . G . . NT END=183097728;NT GT ./. 1 183096634 rs1413390 G A 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4683,A/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.3123+95G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:5:0:0:9,13:242,406:21.99,0.00:3.03,0.00:18.96,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:57.3,8.2:0,0:0,0:115,90:35,61:23,22:NM_002293.3(LAMC1) c.3123+95G>A,-:0.53,-:NOT_FOUND,- 1 183096668 rs1413389 C T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.4683,T/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.3123+129C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:C,T:18:0:0:0:12,6:350,158:0.00,13.69:0.00,0.00:0.00,13.69:0.00,0.94:0.00,0.00:0.00,0.94:60,60:8.2,80.0:0,0:0,0:102,84:49,65:31,39:-,NM_002293.3(LAMC1) c.3123+129C>T:-,0.53:-,NOT_FOUND 1 183096694 rs1413388 T C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4683,C/0.5317;PC=0.353;Gene=LAMC1/NM_002293.3/1;CC=c.3123+155T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:13:0:0:0:4,9:135,273:11.93,0.00:0.00,0.00:11.93,0.00:0.79,0.00:0.00,0.00:0.79,0.00:60,60:93.5,7.8:0,0:0,0:80,92:69,59:23,36:NM_002293.3(LAMC1) c.3123+155T>C,-:0.53,-:NOT_FOUND,- 1 183097605 rs59134708 TAAA T 14 idl,nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TAAA/0.5018,T/0.4982;DB;DBA=NA;PAF=TAAA/0.5018,T/0.4982;NP=409;PC=0.001;Gene=LAMC1/NM_002293.3/1;CC=c.3124-111_3124-109delAAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:TAAA,I,T:10:13:1:8:4,1,5:110,31,240:0.00,2.33,13.98:0.00,2.33,13.98:0.00,0.00,0.00:0.00,0.00,0.91:0.00,0.00,0.91:0.00,0.00,0.00:60,60,60:40.0,67.0,29.8:0,0,3:0,0,0:89,3,52:60,148,99:36,0,24:-,NM_002293.3(LAMC1) c.3124-123_3124-121delAAA:-,NOT_FOUND:-,NOT_FOUND 1 183097609 rs200840404 A T 10 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5018,T/0.4982;PC=0.002;Gene=LAMC1/NM_002293.3/1;CC=c.3124-120A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,T:12:12:0:1:8,4:237,111:0.00,9.70:0.00,9.78:0.00,-0.09:0.00,0.80:0.00,0.80:0.00,0.56:60,60:32.2,26.2:4,4:0,0:54,47:96,103:40,23:-,NM_002293.3(LAMC1) c.3124-120A>T:-,NOT_FOUND:-,NOT_FOUND 1 183097886 . G . . NT END=183099478;NT GT ./. 1 183097956 rs71127335 G GTTA 55 nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.4685,GTTA/0.5315;DB;DBA=NA;PAF=G/0.4685,GTTA/0.5315;DB;DBA=NA;PAF=G/0.4685,GTTA/0.5315;NP=2344;PC=0.533;Gene=LAMC1/NM_002293.3/1;CC=c.3280+72_3280+74dupTTA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTTA:45:15:19:0:26,19:855,595:0.00,55.24:0.00,4.90:0.00,50.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,27.2:0,0:0,0:109,89:35,62:28,31:-,NM_002293.3(LAMC1) c.3280+71_3280+72insTTA:-,NOT_FOUND:-,NOT_FOUND 1 183098001 rs10797851 A G 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4685,G/0.5315;Gene=LAMC1/NM_002293.3/1;CC=c.3280+116A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:6:0:0:13,13:437,392:0.00,37.54:0.00,0.73:0.00,36.81:0.00,1.00:0.00,0.73:0.00,1.00:60,60:5.2,45.3:0,0:0,0:83,106:68,33:49,23:-,NM_002293.3(LAMC1) c.3280+116A>G:-,0.53:-,NOT_FOUND 1 183099380 rs1360704 T C 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6627,C/0.3373;Gene=LAMC1/NM_002293.3/1;CC=c.3281-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:11,15:359,448:33.48,0.00:33.60,0.00:-0.12,0.00:1.00,0.00:1.00,0.00:0.62,0.00:60,60:42.3,12.2:0,0:0,0:31,89:120,62:29,42:NM_002293.3(LAMC1) c.3281-99T>C,-:0.37,-:NOT_FOUND,- 1 183099560 rs20559 G A 109 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.9844,A/0.01558;PC=1.000;Gene=LAMC1/NM_002293.3/1;CC=c.3362G>A;ProtCh=p.R1121Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:53:0:0:35,43:1156,1303:109.07,0.00:53.66,0.00:55.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,10.6:0,0:0,0:60,57:88,94:38,41:NM_002293.3(LAMC1) c.3362G>A (p.Arg1121Gln),-:0.02,-:0.046209,- 1 183099685 . G . . NT END=183100433;NT GT ./. 1 183099701 rs2296300 G A 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.4683,A/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.3486+17G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:18:0:0:30,27:942,888:91.38,0.00:12.16,0.00:79.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,5.3:0,0:0,0:94,104:49,47:25,34:NM_002293.3(LAMC1) c.3486+17G>A,-:0.53,-:0.50346,- 1 183099821 rs6691755 G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4683,A/0.5317;PC=0.001;Gene=LAMC1/NM_002293.3/1;CC=c.3486+137G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:14:0:0:0:3,11:89,357:7.17,0.00:0.00,0.00:7.17,0.00:0.56,0.00:0.00,0.00:0.56,0.00:60,60:52.3,0.0:0,0:0,0:111,105:40,45:12,10:NM_002293.3(LAMC1) c.3486+137G>A,-:0.53,-:NOT_FOUND,- 1 183100226 rs3820697 T C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6625,A/.,C/0.3375,G/.;Gene=LAMC1/NM_002293.3/1;CC=c.3487-208T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:189:21.76:21.76:0.00:1.00:1.00:0.00:60:49.3:0:0:60:89:11:NM_002293.3(LAMC1) c.3487-208T>C,NM_002293.3(LAMC1) c.3487-208T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 183100514 . G . . NT END=183101534;NT GT ./. 1 183100555 rs2333620 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.469,C/0.531;Gene=LAMC1/NM_002293.3/1;CC=c.3566+42T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:12:0:0:10,18:292,592:26.02,0.00:8.63,0.00:17.39,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:65.6,8.9:0,0:0,0:128,89:22,49:15,40:NM_002293.3(LAMC1) c.3566+42T>C,-:0.5,-:0.503306,- 1 183100563 rs55951405 G T 25 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4245,T/0.5755;DB;DBA=NA;PAF=G/0.5076,GGT/0.4924,GT/.;PC=0.001;Gene=LAMC1/NM_002293.3/1;CC=c.3566+50G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:G,T,I,D:25:7:3:3:11,8,3,3:309,268,101,99:0.00,24.84,8.17,7.97:0.00,4.11,1.29,1.29:0.00,20.72,6.87,6.67:0.00,0.99,0.00,0.00:0.00,0.91,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:13.7,91.1,0.0,3.3:0,0,0,0:0,0,0,0:98,117,58,95:33,31,92,56:40,10,22,2:-,NM_002293.3(LAMC1) c.3566+50G>T:-,0.47:-,NOT_FOUND 1 183100596 rs2333619 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4692,G/0.5308;NP=736;Gene=LAMC1/NM_002293.3/1;CC=c.3566+83A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,G:19:2:0:0:13,6:406,194:0.00,17.13:0.00,3.39:0.00,13.73:0.00,0.94:0.00,0.61:0.00,1.00:60,60:8.0,98.2:0,0:0,0:93,89:57,44:23,38:-,NM_002293.3(LAMC1) c.3566+83A>G:-,NOT_FOUND:-,NOT_FOUND 1 183100598 rs4047797 T G 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4742,G/0.5258;NP=725;Gene=LAMC1/NM_002293.3/1;CC=c.3566+85T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:G,T:18:2:0:0:5,13:146,443:12.37,0.00:3.35,0.00:9.01,0.00:0.87,0.00:0.57,0.00:0.99,0.00:60,60:96.0,8.0:0,0:0,0:68,95:49,55:31,23:NM_002293.3(LAMC1) c.3566+85T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 183101427 rs72219850 AAAT A 38 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=AAAT/0.4531,A/0.5469;DB;DBA=NA;PAF=AAAT/0.4531,A/0.5469;DB;DBA=NA;PAF=AAAT/0.4531,A/0.5469;DB;DBA=NA;PAF=AAAT/0.4531,A/0.5469;NP=274;PC=0.003;Gene=LAMC1/NM_002293.3/1;CC=c.3567-81_3567-79delTAA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAT,A:24:23:0:12:12,12:380,396:0.00,38.12:0.00,36.76:0.00,1.36:0.00,1.00:0.00,1.00:0.00,0.89:60,60:13.2,94.2:0,0:0,0:37,44:113,106:28,23:-,NM_002293.3(LAMC1) c.3567-107_3567-105delAAT:-,NOT_FOUND:-,NOT_FOUND 1 183101444 rs12071514 A C 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.4531,C/0.5469;NP=647;PC=0.222;Gene=LAMC1/NM_002293.3/1;CC=c.3567-91A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:31:0:0:17,15:532,510:0.00,48.57:0.00,45.59:0.00,2.99:0.00,1.00:0.00,1.00:0.00,0.97:60,60:7.6,104.9:0,0:0,0:24,53:127,97:12,27:-,NM_002293.3(LAMC1) c.3567-91A>C:-,NOT_FOUND:-,NOT_FOUND 1 183101451 rs12066735 T G 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6573,G/0.3427;PC=0.256;Gene=LAMC1/NM_002293.3/1;CC=c.3567-84T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:33:0:0:15,19:526,592:49.63,0.00:44.83,0.00:4.80,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:103.6,6.8:0,0:0,0:43,31:108,120:26,12:NM_002293.3(LAMC1) c.3567-84T>G,-:0.37,-:NOT_FOUND,- 1 183101471 rs12061219 G A 62 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.4685,A/0.5315;Gene=LAMC1/NM_002293.3/1;CC=c.3567-64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:44:0:0:20,25:657,863:61.82,0.00:54.15,0.00:7.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:86.7,6.1:0,0:0,0:57,42:94,109:32,21:NM_002293.3(LAMC1) c.3567-64G>A,-:0.53,-:NOT_FOUND,- 1 183101673 . G . . NT END=183102540;NT GT ./. 1 183101686 rs12095664 G A 61 nt VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.4683,A/0.5317;PC=0.576;Gene=LAMC1/NM_002293.3/1;CC=c.3704+14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:19:0:0:21,30:661,992:61.11,0.00:13.31,0.00:47.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.2,7.9:0,2:0,0:95,92:55,41:25,24:NM_002293.3(LAMC1) c.3704+14G>A,-:0.53,-:0.503152,- 1 183102686 . G . . NT END=183103794;NT GT ./. 1 183102855 rs6666259 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4683,C/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.3849+170T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:0:0:0:8,8:237,247:22.71,0.00:0.00,0.00:22.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.1,7.4:0,0:0,0:104,116:45,33:26,15:NM_002293.3(LAMC1) c.3849+170T>C,-:0.53,-:NOT_FOUND,- 1 183103604 rs3768615 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4683,G/0.5317;Gene=LAMC1/NM_002293.3/1;CC=c.3850-191A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:8:8:0:0:5,3:163,100:0.00,9.13:0.00,9.13:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:16.2,33.3:0,0:0,0:39,28:111,123:13,6:-,NM_002293.3(LAMC1) c.3850-191A>G:-,0.53:-,NOT_FOUND 1 183103945 . G . . NT END=183104176;NT GT ./. 1 183104013 rs2296299 G A 49 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5701,A/0.4299;Gene=LAMC1/NM_002293.3/1;CC=c.3999+69G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:23:0:0:17,27:533,892:48.67,0.00:15.27,0.00:33.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,9.9:0,0:0,0:93,123:56,28:37,20:NM_002293.3(LAMC1) c.3999+69G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 183104292 . G . . NT END=183105520;NT GT ./. 1 183104340 rs535605665 AT A 36 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1081;Gene=LAMC1/NM_002293.3/1;CC=c.4114+60delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:25:6:0:12:13,12:406,379:0.00,36.11:0.00,9.41:0.00,26.71:0.00,1.00:0.00,0.97:0.00,1.00:60,60:6.8,15.3:0,0:0,0:136,89:13,61:9,39:-,NM_002293.3(LAMC1) c.4114+50delT:-,NOT_FOUND:-,NOT_FOUND 1 183104527 rs12026314 T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6544,C/0.3456;PC=0.004;Gene=LAMC1/NM_002293.3/1;CC=c.4114+236T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:7:0:0:0:3,4:76,131:6.95,0.00:0.00,0.00:6.95,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:110.3,2.5:0,0:0,0:71,128:78,22:39,9:NM_002293.3(LAMC1) c.4114+236T>C,-:0.37,-:NOT_FOUND,- 1 183104552 rs4652779 G A 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4918,A/0.5082;PC=0.006;Gene=LAMC1/NM_002293.3/1;CC=c.4114+261G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:5:0:0:0:3,2:77,66:7.66,0.00:0.00,0.00:7.66,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:110.3,5.0:0,0:0,0:96,135:53,15:39,11:NM_002293.3(LAMC1) c.4114+261G>A,-:0.51,-:NOT_FOUND,- 1 183105324 rs2296297 C T 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4649,T/0.5351;PC=0.095;Gene=LAMC1/NM_002293.3/1;CC=c.4115-197C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,G,T:12:12:0:0:3,1,8:99,11,266:0.00,0.47,27.58:0.00,0.47,27.58:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:9.0,71.0,54.9:0,0,0:0,0,0:22,26,37:128,121,112:5,0,25:-,NM_002293.3(LAMC1) c.4115-197C>T:-,0.52:-,NOT_FOUND 1 183105399 rs2296296 C G 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4471,G/0.5529;Gene=LAMC1/NM_002293.3/1;CC=c.4115-122C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:27:0:0:11,16:358,536:0.00,53.29:0.00,53.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.1,53.1:0,0:0,0:45,47:106,103:23,21:-,NM_002293.3(LAMC1) c.4115-122C>G:-,0.56:-,NOT_FOUND 1 183105534 rs20560 T C 148 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.4395,C/0.5605;Gene=LAMC1/NM_002293.3/1;CC=c.4128T>C;ProtCh=p.R1376=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:84:66:0:0:1,45,38:25,1517,1199:0.89,148.32,0.00:-0.14,96.13,0.00:1.03,52.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:94.0,40.4,5.3:0,0,0:0,0,0:59,54,56:91,97,91:0,25,33:NM_002293.3(LAMC1) c.4128T>C (p.(=)),-:0.55,-:0.539905,- 1 183105705 rs20561 G A 126 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.6482,A/0.3518;PC=0.032;Gene=LAMC1/NM_002293.3/1;CC=c.4299G>A;ProtCh=p.A1433=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:77:31:0:0:41,35,1:1290,1138,11:125.73,0.00,-0.04:27.66,0.00,0.10:98.07,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.0,4.1,115.0:0,0,0:0,0,0:96,74,99:44,77,23:34,43,0:NM_002293.3(LAMC1) c.4299G>A (p.(=)),-:0.38,-:0.358757,- 1 183105721 . G . . NT END=183106803;NT GT ./. 1 183105855 rs398049835 CT C 14 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CT/0.4728,C/0.5272;DB;DBA=NA;PAF=CT/0.4728,C/0.5272;NP=103;PC=0.001;Gene=LAMC1/NM_002293.3/1;CC=c.4314+146delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:CT,I,C:16:0:1:6:10,1,5:292,33,193:0.00,2.29,14.22:0.00,0.00,0.00:0.00,2.29,14.22:0.00,0.00,0.88:0.00,0.00,0.00:0.00,0.00,0.88:60,60,60:7.6,0.0,56.2:0,0,1:0,0,0:117,119,74:33,31,76:27,0,15:-,NM_002293.3(LAMC1) c.4314+136delT:-,NOT_FOUND:-,NOT_FOUND 1 183105897 rs397745935 C CATTG 14 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4581,CATTG/0.5419;DB;DBA=NA;PAF=C/0.4581,CATTG/0.5419;NP=4;Gene=LAMC1/NM_002293.3/1;CC=c.4314+179_4314+182dupTTGA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,CATTG:10:0:5:0:5,5:174,147:0.00,14.07:0.00,0.00:0.00,14.07:0.00,0.95:0.00,0.00:0.00,0.95:60,60:5.6,56.2:0,0:0,0:121,111:29,38:21,12:-,NM_002293.3(LAMC1) c.4314+177_4314+178insATTG:-,0.53:-,NOT_FOUND 1 183105923 rs4652780 G C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4527,C/0.5473;Gene=LAMC1/NM_002293.3/1;CC=c.4314+203G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,G:8:0:0:0:4,4:117,126:11.20,0.00:0.00,0.00:11.20,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:50.8,0.0:0,0:0,0:135,136:15,14:9,11:NM_002293.3(LAMC1) c.4314+203G>C,-:0.55,-:NOT_FOUND,- 1 183106623 rs3835740 T TG 22 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4529,TG/0.5471;NP=148;PC=0.003;Gene=LAMC1/NM_002293.3/1;CC=c.4315-181_4315-180insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:15:15:8:0:7,8:225,225:0.00,21.81:0.00,21.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:42.1,16.0:0,0:0,0:42,48:109,102:23,5:-,NM_002293.3(LAMC1) c.4315-181_4315-180insG:-,0.55:-,NOT_FOUND 1 183106739 rs10797854 G A 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4798,A/0.5202;Gene=LAMC1/NM_002293.3/1;CC=c.4315-65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:24:0:0:15,11:453,354:44.75,0.00:32.04,0.00:12.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,5.2:0,0:0,0:45,45:105,106:16,20:NM_002293.3(LAMC1) c.4315-65G>A,-:0.53,-:NOT_FOUND,- 1 183106963 . G . . NT END=183107323;NT GT ./. 1 183107373 . A . . NT END=183109538;NT GT ./. 1 183107446 rs2274984 G T 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4527,T/0.5473;Gene=LAMC1/NM_002293.3/1;CC=c.4473+484G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:G,T:13:1:0:0:4,9:132,290:0.00,29.81:0.00,1.86:0.00,27.95:0.00,1.00:0.00,0.79:0.00,1.00:60,60:21.0,33.3:0,0:0,0:114,59:36,92:22,44:-,NM_002293.3(LAMC1) c.4473+484G>T:-,0.55:-,NOT_FOUND 1 183109639 . G . . NT END=183111668;NT GT ./. 1 183111926 . T . . NT END=183147976;NT GT ./. 1 183112041 rs3359 G C 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.4237,C/0.5763;PC=1.000;Gene=LAMC1/NM_002293.3/1;CC=c.*116G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:35:1:0:0:22,13:709,397:71.35,0.00:1.84,0.00:69.51,0.00:1.00,0.00:0.75,0.00:1.00,0.00:60,60:44.5,9.8:0,0:0,0:120,63:30,88:18,30:NM_002293.3(LAMC1) c.*116G>C,-:0.57,-:NOT_FOUND,- 1 183147850 rs10494558 C G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9135,G/0.08646 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,G:15:15:0:0:9,6:265,169:0.00,15.38:0.00,15.49:0.00,-0.11:0.00,0.96:0.00,0.96:0.00,0.60:60,60:60.7,28.2:0,0:0,0:80,45:70,105:23,22:-,NM_005562.2(LAMC2) c.-314-u7324C>G:-,0.1:-,NOT_FOUND 1 183148023 . G . . NT END=183155173;NT GT ./. 1 183148228 rs16860429 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9117,A/0.08826 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:5:0:0:0:3,2:100,63:9.97,0.00:0.00,0.00:9.97,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:40.7,0.0:0,0:0,0:108,112:43,39:4,26:NM_005562.2(LAMC2) c.-314-u6946G>A,-:0.1,-:NOT_FOUND,- 1 183155228 rs2276544 C A 181 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.8397,A/0.1603;PC=0.955;Gene=LAMC2/NM_018891.2/0;CC=c.-260C>A;VC=5UTR;Gene=LAMC2/NM_005562.2/1;CC=c.-260C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:118:86:0:0:58,60:1887,1963:180.88,0.00:101.25,0.00:79.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,8.2:0,0:0,0:72,79:73,71:43,33:NM_005562.2(LAMC2) c.-260C>A,-:0.17,-:NOT_FOUND,- 1 183155399 rs2276542 A G 176 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=A/0.7909,G/0.2091;PC=0.988;Gene=LAMC2/NM_018891.2/0;CC=c.-89A>G;VC=5UTR;Gene=LAMC2/NM_005562.2/1;CC=c.-89A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:128:85:0:0:68,60:2172,1856:0.00,175.78:0.00,93.56:0.00,82.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,42.2:0,0:0,0:74,49:72,95:32,36:-,NM_005562.2(LAMC2) c.-89A>G:-,0.21:-,NOT_FOUND 1 183155482 rs684527 C A 196 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=C/0.7252,A/0.2748,G/.,T/.;PC=0.672;Gene=LAMC2/NM_018891.2/0;CC=c.-6C>A;VC=5UTR;Gene=LAMC2/NM_005562.2/1;CC=c.-6C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:127:86:0:0:65,61,1:2026,1899,10:195.65,0.00,-0.13:85.78,0.00,-0.11:109.87,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.3,20.9,107.0:0,0,0:0,0,0:84,71,126:65,75,15:41,30,0:NM_005562.2(LAMC2) c.-6C>A,-:0.28,-:0.221822,- 1 183155567 . G . . NT END=183177015;NT GT ./. 1 183155700 rs6678888 C A 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6787,A/0.3213;Gene=LAMC2/NM_018891.2/0;CC=c.79+134C>A;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.79+134C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:25:0:0:0:14,11:404,337:39.62,0.00:0.00,0.00:39.62,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.4,24.6:0,0:0,0:109,69:41,82:21,29:NM_005562.2(LAMC2) c.79+134C>A,-:0.32,-:NOT_FOUND,- 1 183155715 rs60707856 CT C 64 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=CT/0.388,C/0.612;NP=152;Gene=LAMC2/NM_018891.2/0;CC=c.79+150delT;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.79+150delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:CT,C:24:0:0:19:5,19:166,607:0.00,64.43:0.00,0.00:0.00,64.43:0.00,1.00:0.00,0.00:0.00,1.00:60,60:40.0,33.4:0,0:0,0:145,87:1,64:1,23:-,NM_005562.2(LAMC2) c.79+150delT:-,0.59:-,NOT_FOUND 1 183155717 rs61418038 C A 67 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.388,A/0.612;NP=130;Gene=LAMC2/NM_018891.2/0;CC=c.79+151C>A;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.79+151C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A,C:20:0:0:0:19,1:593,31:66.63,0.00:0.00,0.00:66.63,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.4,61.0:0,0:0,0:88,150:63,1:23,0:NM_005562.2(LAMC2) c.79+151C>A,NM_005562.2(LAMC2) c.79+151C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 183155778 rs6703054 A C 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3884,C/0.6116;PC=0.002;Gene=LAMC2/NM_018891.2/0;CC=c.79+212A>C;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.79+212A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:388:44.95:0.00:44.95:1.00:0.00:1.00:60:39.2:0:0:122:29:27:NM_005562.2(LAMC2) c.79+212A>C,NM_005562.2(LAMC2) c.79+212A>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 183176970 rs34720363 G GT 30 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=117;NP=2;NP=48;Gene=LAMC2/NM_018891.2/0;CC=c.80-31dupT;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.80-31dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:22:27:17:2:11,10,1:257,539,66:0.00,30.28,2.14:0.00,24.22,2.17:0.00,6.07,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.94,0.00:60,60,60:52.3,87.9,12.0:0,7,1:0,0,0:94,61,33:41,86,118:45,23,7:-,NM_005562.2(LAMC2) c.80-46_80-45insT:-,NOT_FOUND:-,NOT_FOUND 1 183177205 . G . . NT END=183184587;NT GT ./. 1 183177218 rs647347 A G 115 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.5038,G/0.4962;Gene=LAMC2/NM_018891.2/0;CC=c.268+14A>G;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.268+14A>G;VC=Intron;DM=LAMC2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:35:0:0:34,36:1028,1192:0.00,115.31:0.00,39.38:0.00,75.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,41.9:0,0:0,0:102,110:46,41:26,23:-,NM_005562.2(LAMC2) c.268+14A>G:-,0.49:-,0.447486 1 183177454 rs635796 T C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3377,C/0.6623;PC=0.029;Gene=LAMC2/NM_018891.2/0;CC=c.268+250T>C;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.268+250T>C;VC=Intron;DM=LAMC2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:32.5:0:0:86:64:17:NM_005562.2(LAMC2) c.268+250T>C,NM_005562.2(LAMC2) c.268+250T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 1 183184428 rs2274982 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.9127,T/0.08726;Gene=LAMC2/NM_018891.2/0;CC=c.269-160C>T;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.269-160C>T;VC=Intron;DM=LAMC2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:10,8:301,240:0.00,22.44:0.00,22.44:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:5.6,63.5:0,0:0,0:29,79:121,71:12,39:-,NM_005562.2(LAMC2) c.269-160C>T:-,0.1:-,NOT_FOUND 1 183184524 rs2274981 C T 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6861,T/0.3139;Gene=LAMC2/NM_018891.2/0;CC=c.269-64C>T;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.269-64C>T;VC=Intron;DM=LAMC2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:44:0:0:29,16:938,552:0.00,50.12:0.00,43.87:0.00,6.25:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.7,67.1:0,0:0,0:30,70:120,81:17,30:-,NM_005562.2(LAMC2) c.269-64C>T:-,0.29:-,NOT_FOUND 1 183184616 rs2274980 C T 120 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.6863,T/0.3137;PC=0.013;Gene=LAMC2/NM_018891.2/0;CC=c.297C>T;ProtCh=p.S99=;VC=Silent;Gene=LAMC2/NM_005562.2/1;CC=c.297C>T;ProtCh=p.S99=;VC=Silent;DM=LAMC2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:67:0:0:47,37:1402,1268:0.00,119.51:0.00,83.49:0.00,36.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,48.5:0,0:0,0:85,62:65,87:33,21:-,NM_005562.2(LAMC2) c.297C>T (p.(=)):-,0.29:-,0.246117 1 183184724 . G . . NT END=183187524;NT GT ./. 1 183184848 rs875794 T G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.643,G/0.357;Gene=LAMC2/NM_018891.2/0;CC=c.404+125T>G;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.404+125T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:22:1:0:0:12,10:402,332:39.34,0.00:3.61,0.00:35.73,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:38.8,0.0:0,0:0,0:131,94:20,55:15,27:NM_005562.2(LAMC2) c.404+125T>G,-:0.33,-:NOT_FOUND,- 1 183184960 rs875795 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6861,T/0.3139;Gene=LAMC2/NM_018891.2/0;CC=c.404+237C>T;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.404+237C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:8:0:0:0:5,3:129,104:0.00,9.57:0.00,0.00:0.00,9.57:0.00,0.67:0.00,0.00:0.00,0.67:60,60:19.0,51.0:0,0:0,0:101,90:50,60:5,7:-,NM_005562.2(LAMC2) c.404+237C>T:-,0.29:-,NOT_FOUND 1 183187494 rs10911285 T C 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.6861,C/0.3139;Gene=LAMC2/NM_018891.2/0;CC=c.405-31T>C;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.405-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:42:0:0:25,28:732,842:69.17,0.00:39.19,0.00:29.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.6,13.3:0,0:0,0:45,42:103,107:16,18:NM_005562.2(LAMC2) c.405-31T>C,-:0.29,-:0.245193,- 1 183187603 rs1129723 C T 113 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.6861,T/0.3139;PC=0.675;Gene=LAMC2/NM_018891.2/0;CC=c.483C>T;ProtCh=p.V161=;VC=Silent;Gene=LAMC2/NM_005562.2/1;CC=c.483C>T;ProtCh=p.V161=;VC=Silent;DM=LAMC2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:57:0:0:43,38:1485,1192:0.00,112.91:0.00,43.37:0.00,69.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,45.6:0,0:0,0:82,86:63,59:23,22:-,NM_005562.2(LAMC2) c.483C>T (p.(=)):-,0.29:-,0.246117 1 183187624 . G . . NT END=183189959;NT GT ./. 1 183190097 . G . . NT END=183191223;NT GT ./. 1 183191144 rs2296307 C T 87 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.6843,T/0.3157;Gene=LAMC2/NM_018891.2/0;CC=c.641-80C>T;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.641-80C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:34:0:0:16,26:496,867:0.00,87.00:0.00,56.79:0.00,30.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,40.1:0,0:0,0:37,48:106,102:19,18:-,NM_005562.2(LAMC2) c.641-80C>T:-,0.29:-,NOT_FOUND 1 183191347 . G . . NT END=183192269;NT GT ./. 1 183192304 rs1047980 T G 114 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.645,G/0.355;PC=0.562;Gene=LAMC2/NM_018891.2/0;CC=c.798T>G;ProtCh=p.G266=;VC=Silent;Gene=LAMC2/NM_005562.2/1;CC=c.798T>G;ProtCh=p.G266=;VC=Silent;DM=LAMC2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:62:51:0:0:35,27:1160,838:114.29,0.00:73.35,0.00:40.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,4.4:0,0:0,0:64,53:84,98:35,36:NM_005562.2(LAMC2) c.798T>G (p.(=)),-:0.32,-:0.287098,- 1 183192460 . G . . NT END=183194742;NT GT ./. 1 183192496 rs3738824 A G 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.8868,G/0.1132;PC=0.290;Gene=LAMC2/NM_018891.2/0;CC=c.953+37A>G;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.953+37A>G;VC=Intron;DM=LAMC2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:15:0:0:25,22:795,752:0.00,71.60:0.00,14.85:0.00,56.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,39.4:0,0:0,0:108,110:28,30:29,24:-,NM_005562.2(LAMC2) c.953+37A>G:-,0.13:-,0.122405 1 183194619 rs2021956 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6861,G/0.3139;Gene=LAMC2/NM_018891.2/0;CC=c.954-124A>G;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.954-124A>G;VC=Intron;DM=LAMC2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,G:13:13:0:0:5,8:148,270:0.00,27.06:0.00,27.06:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.0,35.0:0,0:0,0:31,76:120,75:31,42:-,NM_005562.2(LAMC2) c.954-124A>G:-,0.29:-,NOT_FOUND 1 183194855 . A G 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;PC=1.000;Gene=LAMC2/NM_018891.2/0;CC=c.1066A>G;ProtCh=p.S356G;VC=Missense;Gene=LAMC2/NM_005562.2/1;CC=c.1066A>G;ProtCh=p.S356G;VC=Missense;DM=LAMC2/Laminin_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:19:0:0:21,21:714,658:0.00,63.17:0.00,26.84:0.00,36.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.1,35.1:0,0:0,0:76,95:71,53:29,32:-,NM_005562.2(LAMC2) c.1066A>G (p.Ser356Gly):-,NOT_FOUND:-,NOT_FOUND 1 183194856 . G . . NT END=183195832;NT GT ./. 1 183196052 . G . . NT END=183196649;NT GT ./. 1 183196833 . G . . NT END=183197508;NT GT ./. 1 183197305 rs6658628 A G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6472,G/0.3528;PC=0.003;Gene=LAMC2/NM_018891.2/0;CC=c.1469-204A>G;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.1469-204A>G;VC=Intron;DM=LAMC2/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:12:12:0:0:9,3:287,80:0.00,6.50:0.00,6.50:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:15.0,48.0:0,0:0,0:32,26:117,125:14,8:-,NM_005562.2(LAMC2) c.1469-204A>G:-,0.32:-,NOT_FOUND 1 183197755 . G . . NT END=183200095;NT GT ./. 1 183200239 . G . . NT END=183201321;NT GT ./. 1 183201479 . G . . NT END=183201786;NT GT ./. 1 183201970 rs2296303 G C 126 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.855,C/0.145;PC=0.349;Gene=LAMC2/NM_018891.2/0;CC=c.2198G>C;ProtCh=p.S733T;VC=Missense;Gene=LAMC2/NM_005562.2/1;CC=c.2198G>C;ProtCh=p.S733T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:71:30:0:0:1,38,32:10,1293,1062:-0.06,126.48,0.00:-0.05,32.63,0.00:-0.01,93.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:128.0,37.7,13.1:0,0,0:0,0,0:20,96,98:130,50,43:0,34,29:NM_005562.2(LAMC2) c.2198G>C (p.Ser733Thr),-:0.15,-:0.161771,- 1 183201993 . G . . NT END=183203501;NT GT ./. 1 183203582 . G . . NT END=183204709;NT GT ./. 1 183204477 rs2296302 G A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6414,A/0.3586;Gene=LAMC2/NM_018891.2/0;CC=c.2301-233G>A;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.2301-233G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:6:6:0:0:4,2:129,65:13.15,0.00:13.15,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:47.5,0.0:0,0:0,0:45,91:104,60:3,57:NM_005562.2(LAMC2) c.2301-233G>A,-:0.32,-:NOT_FOUND,- 1 183204866 . G . . NT END=183205594;NT GT ./. 1 183205480 rs3738823 C T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8554,T/0.1446;Gene=LAMC2/NM_018891.2/0;CC=c.2457-115C>T;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.2457-115C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:20:0:0:9,11:289,327:0.00,31.92:0.00,30.16:0.00,1.76:0.00,1.00:0.00,1.00:0.00,0.70:60,60:32.1,47.4:0,0:0,0:57,50:69,101:25,29:-,NM_005562.2(LAMC2) c.2457-115C>T:-,0.15:-,NOT_FOUND 1 183205523 rs58014409 CA C 36 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=3;Gene=LAMC2/NM_018891.2/0;CC=c.2457-54delA;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.2457-54delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,C:22:30:0:23:1,9,12:26,292,652:1.47,0.00,36.17:-0.13,0.00,36.17:1.59,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.59:60,60,60:37.0,50.2,94.0:0,0,9:0,0,0:32,81,39:98,70,111:0,55,25:-,NM_005562.2(LAMC2) c.2457-71delA:-,NOT_FOUND:-,NOT_FOUND 1 183205740 . G . . NT END=183206486;NT GT ./. 1 183206573 rs1047981 G A 96 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.6476,A/0.3524;PC=0.311;Gene=LAMC2/NM_018891.2/0;CC=c.2688G>A;ProtCh=p.Q896=;VC=Silent;Gene=LAMC2/NM_005562.2/1;CC=c.2688G>A;ProtCh=p.Q896=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:48:0:0:32,38:1019,1290:96.22,0.00:46.67,0.00:49.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,3.4:0,0:0,0:64,66:81,80:31,32:NM_005562.2(LAMC2) c.2688G>A (p.(=)),-:0.32,-:0.286406,- 1 183206640 . G . . NT END=183207441;NT GT ./. 1 183207557 . G . . NT END=183208498;NT GT ./. 1 183207603 rs1925043 T C 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6412,C/0.3588;Gene=LAMC2/NM_018891.2/0;CC=c.2869+47T>C;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.2869+47T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:5:0:0:12,14:364,445:34.31,0.00:8.47,0.00:25.84,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:33.8,5.9:0,0:0,0:129,86:20,63:14,40:NM_005562.2(LAMC2) c.2869+47T>C,-:0.32,-:0.293787,- 1 183208699 . G . . NT END=183209174;NT GT ./. 1 183208842 rs648809 T G 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.8666,G/0.1334;Gene=LAMC2/NM_018891.2/0;CC=c.3069+144T>G;VC=Intron;Gene=LAMC2/NM_005562.2/1;CC=c.3069+144T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:G,T:19:0:0:0:7,12:197,406:17.59,0.00:0.00,0.00:17.59,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:44.0,9.2:0,0:0,0:90,124:61,26:40,18:NM_005562.2(LAMC2) c.3069+144T>G,-:0.15,-:NOT_FOUND,- 1 183209334 . G . . NT END=183209426;NT GT ./. 1 183209851 . g . . NT END=183210390;NT GT ./. 1 183210380 rs397864083 CA C 15 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;PC=0.029;Gene=LAMC2/NM_018891.2/0;CC=c.*862delA;VC=3UTR;Gene=LAMC2/NM_005562.2/1;CC=c.3328+870delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,CA,I,C:30:28:2:8:1,21,2,6:11,647,60,247:0.02,0.00,3.96,14.91:-0.24,0.00,2.18,15.23:0.26,0.00,1.78,-0.31:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.73:60,60,60,60:22.0,31.2,10.5,21.5:0,0,0,2:0,0,0,0:13,76,47,27:138,75,104,120:0,42,8,10:-,NM_005562.2(LAMC2) c.3328+855delA:-,NOT_FOUND:-,NOT_FOUND 1 183210407 . a . . NT END=183212281;NT GT ./. 1 183212536 . A . . NT END=183221775;NT GT ./. 1 183221879 . C . . NT END=183230136;NT GT ./. 1 183230205 . c . . NT END=183230336;NT GT ./. 1 183230439 . C . . NT END=183247687;NT GT ./. 1 183230516 rs67770192 ATCCGC A 77 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=ATCCGC/0.3498,A/0.6502;DB;DBA=NA;PAF=ATCCGC/0.3498,A/0.6502;NP=2328;Gene=NMNAT2/NM_170706.3/0;CC=c.637-83_637-79delGCGGA;VC=Intron;Gene=NMNAT2/NM_015039.3/1;CC=c.652-83_652-79delGCGGA;VC=Intron;DM=NMNAT2/CTP_transf_like;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:ATCCGC,A:30:5:0:24:6,24:184,723:0.00,77.20:0.00,4.57:0.00,72.63:0.00,1.00:0.00,0.96:0.00,1.00:60,70:0.0,19.6:0,0:0,0:147,106:2,45:2,18:-,NM_015039.3(NMNAT2) c.652-83_652-79delGCGGA:-,NOT_FOUND:-,NOT_FOUND 1 183247765 . C . . NT END=183253129;NT GT ./. 1 183253175 . C . . NT END=183253844;NT GT ./. 1 183253213 rs607332 G A 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.6554,A/0.3446;Gene=NMNAT2/NM_170706.3/0;CC=c.515-39C>T;VC=Intron;Gene=NMNAT2/NM_015039.3/1;CC=c.530-39C>T;VC=Intron;DM=NMNAT2/CTP_transf_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:45:23:0:0:20,1,24:643,11,759:60.65,0.01,0.00:28.71,0.19,0.00:31.94,-0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.4,112.0,23.2:0,0,0:0,0,0:99,130,95:48,20,50:25,0,32:NM_015039.3(NMNAT2) c.530-39C>T,-:0.32,-:0.36414,- 1 183253926 . C . . NT END=183255796;NT GT ./. 1 183253959 rs603850 T G 83 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NMNAT2/NM_170706.3/0;CC=c.434-34A>C;VC=Intron;Gene=NMNAT2/NM_015039.3/1;CC=c.449-34A>C;VC=Intron;DM=NMNAT2/CTP_transf_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:43:28:0:0:26,17:835,571:83.37,0.00:35.67,0.00:47.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,14.1:0,0:0,0:96,83:39,67:25,18:NM_015039.3(NMNAT2) c.449-34A>C,-:0.42,-:0.456097,- 1 183255924 . C . . NT END=183259262;NT GT ./. 1 183259342 . C . . NT END=183261924;NT GT ./. 1 183261710 rs944189 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4784,G/0.5216;Gene=NMNAT2/NM_170706.3/0;CC=c.227+215T>C;VC=Intron;Gene=NMNAT2/NM_015039.3/1;CC=c.242+215T>C;VC=Intron;DM=NMNAT2/CTP_transf_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:11:11:0:0:7,4:217,123:0.00,11.09:0.00,11.09:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:1.7,30.8:0,0:0,0:40,69:111,81:15,35:-,NM_015039.3(NMNAT2) c.242+215T>C:-,0.55:-,NOT_FOUND 1 183261993 . C . . NT END=183262839;NT GT ./. 1 183262929 . C . . NT END=183273804;NT GT ./. 1 183273751 rs2276879 C T 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7831,T/0.2169;Gene=NMNAT2/NM_170706.3/0;CC=c.70+54G>A;VC=Intron;Gene=NMNAT2/NM_015039.3/1;CC=c.86-10823G>A;VC=Intron;DM=NMNAT2/CTP_transf_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:39:0:0:24,17:766,532:0.00,49.21:0.00,44.80:0.00,4.41:0.00,1.00:0.00,1.00:0.00,0.98:60,60:6.8,50.4:0,0:0,0:45,32:102,114:28,21:-,NM_015039.3(NMNAT2) c.86-10823G>A:-,0.24:-,0.187473 1 183274010 . T . . NT END=183387317;NT GT ./. 1 183387403 . G . . NT END=183441755;NT GT ./. 1 183396325 . C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,T:23:20:0:0:20,3:602,99:0.00,7.47:0.00,2.11:0.00,5.35:0.00,0.47:0.00,0.87:0.00,0.59:60,57:78.5,142.3:0,1:0,0:55,17:89,82:37,5:-,chr1 g.183396324C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 183396348 rs2702196 T C 82 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2762,C/0.7238;PC=0.062 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:C,T:23:20:0:0:22,1:732,34:81.75,0.00:58.49,0.00:23.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,57:136.4,20.0:0,0:0,0:36,40:91,29:24,0:chr1 g.183396347T>C (intergenic),chr1 g.183396347T>C (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 1 183396401 rs2464366 T C 128 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.245,C/0.755;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:33:0:0:37:1109:128.46:95.57:32.89:1.00:1.00:1.00:60:152.0:0:0:57:88:17:chr1 g.183396400T>C (intergenic),chr1 g.183396400T>C (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 1 183396415 rs71130615 GAGGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGGT G 12 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=7;PC=0.009;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:GAGGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGGT,G:39:34:0:5:34,5:1037,157:0.00,11.61:0.00,5.30:0.00,6.31:0.00,0.77:0.00,0.96:0.00,0.83:60,59:168.4,43.6:0,0:0,0:69,65:74,82:19,1:-,chr1 g.183396416_183396452delAGGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 183396417 . G T 8 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,T:33:28:0:5:29,4:899,115:0.00,8.15:0.00,4.44:0.00,3.71:0.00,0.62:0.00,0.92:0.00,0.69:60,60:161.3,196.5:0,0:0,0:73,13:72,137:17,2:-,chr1 g.183396416G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 183396426 . C T 8 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:C,T:35:30:0:5:30,5:943,117:0.00,7.92:0.00,6.15:0.00,1.77:0.00,0.78:0.00,0.97:0.00,0.79:60,60:175.2,200.0:0,0:0,0:82,18:60,133:16,5:-,chr1 g.183396425C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 183396427 rs2264754 A G 123 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.271,G/0.729 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:G:36:31:0:5:36:1061:123.04:85.93:37.11:1.00:1.00:1.00:60:174.6:0:0:78:69:22:chr1 g.183396426A>G (intergenic),chr1 g.183396426A>G (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 1 183396437 . G T 24 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:33:26:0:5:1,23,9:13,643,283:0.13,0.00,24.37:0.21,0.00,16.03:-0.09,0.00,8.34:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.96:57,60,60:231.0,177.3,152.1:0,0,0:0,0,0:74,93,18:77,52,122:0,15,7:-,chr1 g.183396436G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 183396440 rs10911331 C T 67 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:24:0:5:12,20:332,663:0.00,66.70:0.00,50.20:0.00,16.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:132.9,180.8:12,18:0,0:20,91:125,55:7,12:-,chr1 g.183396439C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 183396444 rs201932470 C CAT 102 idl,nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.017;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C,CAT:35:28:34:5:1,34:8,877:0.00,101.81:0.00,63.29:0.00,38.53:0.00,1.00:0.00,1.00:0.00,1.00:15,60:174.0,157.7:1,0:0,0:128,80:23,67:0,36:chr1 g.183396444_183396445insAT (intergenic),chr1 g.183396444_183396445insAT (intergenic):0.19,0.19:NOT_FOUND,NOT_FOUND 1 183396452 rs7537204 T G 148 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=15;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:33:0:5:42:1281:148.05:96.28:51.77:1.00:1.00:1.00:60:145.4:0:0:64:63:38:chr1 g.183396451T>G (intergenic),chr1 g.183396451T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 183396474 rs2485938 A G 162 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.2813,G/0.7187;NP=159;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A,G:49:36:0:0:1,48:35,1415:0.00,162.18:0.00,89.79:0.00,72.39:0.00,1.00:0.00,1.00:0.00,1.00:4,60:54.0,121.7:0,4:0,0:24,65:39,78:0,43:chr1 g.183396473A>G (intergenic),chr1 g.183396473A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 183396481 rs61437244 CAT C 18 nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.008;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:CAT,T,C:51:39:0:12:39,1,11:1231,9,243:0.00,-0.20,18.16:0.00,-0.18,16.12:0.00,-0.02,2.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,37,60:85.9,60.0,186.0:5,0,0:0,0,0:50,63,131:88,59,17:22,0,8:-,chr1 g.183396482_183396483delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 183396610 rs2485939 A T 98 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2444,T/0.7556;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:5:0:0:27:854:98.20:11.53:86.67:1.00:1.00:1.00:60:47.0:0:0:93:57:19:chr1 g.183396609A>T (intergenic),chr1 g.183396609A>T (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 1 183441785 . G . . NT END=183442855;NT GT ./. 1 183443034 . G . . NT END=183471387;NT GT ./. 1 183471528 . T . . NT END=183477252;NT GT ./. 1 183477318 . G . . NT END=183481971;NT GT ./. 1 183481943 rs59379855 C CT 22 idl,rn VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=246;NP=3;NP=4;NP=8;Gene=SMG7/NM_001174061.1/0;CC=c.-65-3046_-65-3045insT;VC=Intron;Gene=SMG7/NM_173156.2/0;CC=c.30-9_30-8insT;VC=Intron;Gene=SMG7/NM_201568.2/0;CC=c.30-9_30-8insT;VC=Intron;Gene=SMG7/NM_201569.2/1;CC=c.30-9_30-8insT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,CT,D:47:41:11:7:34,9,4:1024,335,211:0.00,22.34,7.49:0.00,12.57,0.21:0.00,9.77,7.27:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:40.5,68.2,52.0:1,2,3:0,0,0:93,58,48:56,89,83:37,38,3:-,NM_201569.2(SMG7) c.30-29_30-28insT:-,NOT_FOUND:-,NOT_FOUND 1 183482005 . T . . NT END=183485008;NT GT ./. 1 183485128 . T . . NT END=183486822;NT GT ./. 1 183486957 . T . . NT END=183495730;NT GT ./. 1 183495904 . T . . NT END=183497090;NT GT ./. 1 183497164 . T . . NT END=183498026;NT GT ./. 1 183498179 . T . . NT END=183498532;NT GT ./. 1 183498670 . T . . NT END=183502298;NT GT ./. 1 183502463 . T . . NT END=183502810;NT GT ./. 1 183502969 . T . . NT END=183506279;NT GT ./. 1 183506352 . T . . NT END=183507514;NT GT ./. 1 183507577 . T . . NT END=183510118;NT GT ./. 1 183510240 . T . . NT END=183511210;NT GT ./. 1 183511639 . T . . NT END=183513487;NT GT ./. 1 183513634 . T . . NT END=183514064;NT GT ./. 1 183514449 . T . . NT END=183515100;NT GT ./. 1 183515474 . T . . NT END=183516237;NT GT ./. 1 183516389 . T . . NT END=183518342;NT GT ./. 1 183518425 . T . . NT END=183518898;NT GT ./. 1 183519060 . T . . NT END=183519885;NT GT ./. 1 183520058 . T . . NT END=183520179;NT GT ./. 1 183520327 . T . . NT END=183520952;NT GT ./. 1 183522337 . A . . NT END=183525252;NT GT ./. 1 183525366 . C . . NT END=183529230;NT GT ./. 1 183529409 . C . . NT END=183532329;NT GT ./. 1 183532442 . C . . NT END=183532568;NT GT ./. 1 183532721 . C . . NT END=183533139;NT GT ./. 1 183533166 . C . . NT END=183534838;NT GT ./. 1 183534915 . C . . NT END=183536054;NT GT ./. 1 183536124 . C . . NT END=183536338;NT GT ./. 1 183536481 . C . . NT END=183538276;NT GT ./. 1 183538321 . C . . NT END=183539914;NT GT ./. 1 183539975 . C . . NT END=183542319;NT GT ./. 1 183542428 . C . . NT END=183543621;NT GT ./. 1 183543757 . C . . NT END=183546733;NT GT ./. 1 183546843 . C . . NT END=183556029;NT GT ./. 1 183556113 . C . . NT END=183559290;NT GT ./. 1 183556291 rs789192 A G 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5583,G/0.4417;PC=0.100;Gene=NCF2/NM_000433.3/1;CC=c.175-179T>C;VC=Intron;Gene=NCF2/NM_001190789.1/0;CC=c.175-179T>C;VC=Intron;Gene=NCF2/NM_001190794.1/0;CC=c.175-179T>C;VC=Intron;Gene=NCF2/NM_001127651.2/0;CC=c.175-179T>C;VC=Intron;DM=NCF2/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:1:0:0:7,6:189,196:0.00,18.58:0.00,-0.27:0.00,18.85:0.00,0.97:0.00,0.64:0.00,1.00:60,60:30.9,39.0:0,0:0,0:94,111:55,39:28,15:-,NM_000433.3(NCF2) c.175-179T>C:-,0.43:-,NOT_FOUND 1 183559465 . G . . NT END=183596666;NT GT ./. 1 183596730 . C . . NT END=183599595;NT GT ./. 1 183599773 . C . . NT END=183602216;NT GT ./. 1 183602299 . G . . NT END=183604651;NT GT ./. 1 183604795 . C . . NT END=183616812;NT GT ./. 1 183604905 rs2767305 A G 67 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.4864,G/0.5136;PC=1.000;Gene=ARPC5/NM_001270439.1/0;CC=c.-111T>C;VC=5UTR;Gene=ARPC5/NM_005717.3/1;CC=c.-111T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:9:0:0:22,22:729,696:0.00,66.84:0.00,0.08:0.00,66.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,47.0:0,0:0,0:123,92:25,59:19,26:-,NM_001270439.1(ARPC5) c.-111T>C:-,0.47:-,NOT_FOUND 1 183616687 rs1174656 G A 44 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7668,A/0.2332;PC=0.786;Gene=RGL1/NM_001297669.1/0;CC=c.-143+11051G>A;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.-33+11051G>A;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.-33+11051G>A;VC=Intron;Gene=APOBEC4/NM_203454.2/1;CC=c.*126C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:38:0:0:15,24:478,807:43.66,0.00:42.35,0.00:1.30,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:36.1,7.1:0,0:0,0:41,49:110,101:27,30:NM_203454.2(APOBEC4) c.*126C>T,-:0.25,-:NOT_FOUND,- 1 183616926 rs1174657 T C 217 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.6298,C/0.3702;Gene=RGL1/NM_001297669.1/0;CC=c.-143+11290T>C;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.-33+11290T>C;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.-33+11290T>C;VC=Intron;Gene=APOBEC4/NM_203454.2/1;CC=c.991A>G;ProtCh=p.K331E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:130:87:0:0:72,58:2221,1875:217.48,0.00:103.00,0.00:114.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,8.4:0,0:0,0:77,89:71,55:32,30:NM_203454.2(APOBEC4) c.991A>G (p.Lys331Glu),-:0.36,-:0.420498,- 1 183617105 rs1174658 A G 215 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=A/0.6298,G/0.3702;PC=0.034;Gene=RGL1/NM_001297669.1/0;CC=c.-143+11469A>G;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.-33+11469A>G;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.-33+11469A>G;VC=Intron;Gene=APOBEC4/NM_203454.2/1;CC=c.812T>C;ProtCh=p.F271S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:132:81:0:0:66,66:1943,2227:0.00,214.54:0.00,102.30:0.00,112.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,41.9:0,0:0,0:95,78:55,70:34,39:-,NM_203454.2(APOBEC4) c.812T>C (p.Phe271Ser):-,0.36:-,0.420498 1 183617917 . T . . NT END=183711292;NT GT ./. 1 183711425 . G . . NT END=183774365;NT GT ./. 1 183711483 rs3820689 C T 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.5144,T/0.4856;Gene=RGL1/NM_001297669.1/0;CC=c.132+59C>T;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.132+59C>T;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.132+59C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:14:0:0:21,15:658,504:0.00,46.96:0.00,13.34:0.00,33.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,36.4:0,0:0,0:118,120:33,31:16,22:-,NM_015149.3(RGL1) c.132+59C>T:-,0.53:-,NOT_FOUND 1 183774459 . G . . NT END=183775508;NT GT ./. 1 183775292 rs4997667 G A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8612,A/0.1388;PC=0.005;Gene=RGL1/NM_001297669.1/0;CC=c.133-41408G>A;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.133-41408G>A;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.133-217G>A;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.28-217G>A;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.28-217G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:7:7:0:0:3,4:98,139:9.16,0.00:9.16,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:32.7,10.8:0,0:0,0:24,71:127,79:19,19:NM_015149.3(RGL1) c.133-217G>A,-:0.13,-:NOT_FOUND,- 1 183775620 . G . . NT END=183816699;NT GT ./. 1 183775638 rs11579867 A T 63 nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.8419,T/0.1581;PC=0.030;Gene=RGL1/NM_001297669.1/0;CC=c.133-41062A>T;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.133-41062A>T;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.243+19A>T;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.138+19A>T;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.138+19A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:45:14:0:0:24,21:748,661:0.00,62.61:0.00,20.22:0.00,42.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,36.5:0,0:0,0:97,105:46,46:25,30:-,NM_015149.3(RGL1) c.243+19A>T:-,0.18:-,0.24135 1 183775704 rs368701909 CT C 13 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=33;PC=0.001;Gene=RGL1/NM_001297669.1/0;CC=c.133-40984delT;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.133-40984delT;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.243+97delT;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.138+97delT;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.138+97delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:CT,G,C:17:2:0:6:11,1,5:313,10,186:0.00,0.12,13.26:0.00,-0.03,1.47:0.00,0.14,11.79:0.00,0.00,0.87:0.00,0.00,0.57:0.00,0.00,0.99:60,60,60:23.6,81.0,26.0:0,0,1:0,0,0:117,61,113:34,90,35:29,0,18:-,NM_015149.3(RGL1) c.243+86delT:-,NOT_FOUND:-,NOT_FOUND 1 183816909 . G . . NT END=183835129;NT GT ./. 1 183817016 rs3010054 G A 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8556,A/0.1444;PC=0.001;Gene=RGL1/NM_001297669.1/0;CC=c.341+108G>A;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.341+108G>A;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.452+108G>A;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.347+108G>A;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.347+108G>A;VC=Intron;DM=RGL1/RasGEF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,G:20:0:0:0:14,6:424,198:43.73,0.00:0.00,0.00:43.73,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.4,0.0:0,0:0,0:107,83:44,67:22,30:NM_015149.3(RGL1) c.452+108G>A,-:0.2,-:NOT_FOUND,- 1 183835208 . G . . NT END=183849749;NT GT ./. 1 183835393 rs9425324 A G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7564,G/0.2436;Gene=RGL1/NM_001297669.1/0;CC=c.419+186A>G;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.419+186A>G;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.530+186A>G;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.425+186A>G;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.425+186A>G;VC=Intron;DM=RGL1/RasGEF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:0:0:0:1,4:33,116:0.00,12.38:0.00,0.00:0.00,12.38:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,40.2:0,0:0,0:69,108:82,42:0,12:-,NM_015149.3(RGL1) c.530+186A>G:-,0.27:-,NOT_FOUND 1 183849739 rs41263652 G C 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.8934,C/0.1066;PC=0.004;Gene=RGL1/NM_001297669.1/0;CC=c.420-11G>C;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.420-11G>C;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.531-11G>C;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.426-11G>C;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.426-11G>C;VC=Intron;DM=RGL1/RasGEF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:67:57:0:0:1,30,36:34,1039,1220:1.82,98.46,0.00:0.86,69.96,0.00:0.96,28.50,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:43.0,38.6,11.6:0,0,0:0,0,0:24,39,29:127,109,117:0,22,18:NM_015149.3(RGL1) c.531-11G>C,-:0.11,-:0.124097,- 1 183849935 . G . . NT END=183852919;NT GT ./. 1 183853045 . G . . NT END=183853856;NT GT ./. 1 183854073 . G . . NT END=183857607;NT GT ./. 1 183857712 . G . . NT END=183861210;NT GT ./. 1 183861296 . G . . NT END=183866941;NT GT ./. 1 183866849 rs12031722 G T 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8301,T/0.1699;PC=0.002;Gene=RGL1/NM_001297669.1/0;CC=c.1135-93G>T;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1135-93G>T;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1246-93G>T;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1141-93G>T;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1141-93G>T;VC=Intron;DM=RGL1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:16:16:0:0:7,9:244,269:0.00,26.43:0.00,23.03:0.00,3.40:0.00,1.00:0.00,1.00:0.00,0.92:60,60:0.0,33.7:0,0:0,0:84,43:67,107:34,23:-,NM_015149.3(RGL1) c.1246-93G>T:-,0.19:-,NOT_FOUND 1 183867032 . G . . NT END=183869283;NT GT ./. 1 183867085 rs3814330 C T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.633,T/0.367;Gene=RGL1/NM_001297669.1/0;CC=c.1224+54C>T;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1224+54C>T;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1335+54C>T;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1230+54C>T;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1230+54C>T;VC=Intron;DM=RGL1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:8:0:0:11,14:313,437:0.00,42.99:0.00,8.30:0.00,34.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,50.7:0,0:0,0:99,94:52,57:32,32:-,NM_015149.3(RGL1) c.1335+54C>T:-,0.35:-,0.302891 1 183869371 . G . . NT END=183871701;NT GT ./. 1 183871637 rs4604659 G A 146 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.4471,A/0.5529;Gene=RGL1/NM_001297669.1/0;CC=c.1312-65G>A;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1312-65G>A;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1423-65G>A;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1318-65G>A;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1231-65G>A;VC=Intron;DM=RGL1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:A:39:38:0:0:39:1274:145.95:112.74:33.20:1.00:1.00:1.00:60:60.4:0:0:73:77:44:NM_015149.3(RGL1) c.1423-65G>A,NM_015149.3(RGL1) c.1423-65G>A:0.55,0.55:0.557381,0.557381 1 183871646 rs12130698 T C 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.9784,C/0.02157;Gene=RGL1/NM_001297669.1/0;CC=c.1312-56T>C;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1312-56T>C;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1423-56T>C;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1318-56T>C;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1231-56T>C;VC=Intron;DM=RGL1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:40:0:0:22,19:694,614:67.58,0.00:49.38,0.00:18.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:79.0,32.6:0,0:0,0:54,57:83,93:31,33:NM_015149.3(RGL1) c.1423-56T>C,-:0.02,-:NOT_FOUND,- 1 183871735 . G . . NT END=183873983;NT GT ./. 1 183873898 rs10797920 A G 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.6472,G/0.3528;Gene=RGL1/NM_001297669.1/0;CC=c.1345-86A>G;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1345-86A>G;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1456-86A>G;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1351-86A>G;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1264-86A>G;VC=Intron;DM=RGL1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:28:0:0:18,17:565,556:0.00,53.18:0.00,36.49:0.00,16.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,38.4:0,0:0,0:80,40:71,111:39,32:-,NM_015149.3(RGL1) c.1456-86A>G:-,0.33:-,NOT_FOUND 1 183873947 . CT C 21 rn VT=DEL;SST=Single;DP=45;NP=38;PC=0.001;Gene=RGL1/NM_001297669.1/0;CC=c.1345-27delT;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1345-27delT;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1456-27delT;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1351-27delT;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1264-27delT;VC=Intron;DM=RGL1/RasGEF;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:44:31:1:10:34,1,9:1115,33,297:0.00,1.79,21.12:0.00,-0.17,16.02:0.00,1.97,5.10:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:17.7,0.0,57.0:0,0,1:0,0,0:52,121,71:86,30,79:26,0,38:-,NM_015149.3(RGL1) c.1456-36delT:-,NOT_FOUND:-,NOT_FOUND 1 183874106 . G . . NT END=183876145;NT GT ./. 1 183876182 rs11591089 C T 50 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7829,T/0.2171;PC=0.033;Gene=RGL1/NM_001297669.1/0;CC=c.1503C>T;ProtCh=p.D501=;VC=Silent;Gene=RGL1/NM_001297670.1/0;CC=c.1503C>T;ProtCh=p.D501=;VC=Silent;Gene=RGL1/NM_015149.4/1;CC=c.1614C>T;ProtCh=p.D538=;VC=Silent;Gene=RGL1/NM_001297671.1/0;CC=c.1509C>T;ProtCh=p.D503=;VC=Silent;Gene=RGL1/NM_001297672.1/0;CC=c.1422C>T;ProtCh=p.D474=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:20:0:0:13,15:408,510:0.00,49.76:0.00,28.68:0.00,21.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,39.0:0,0:0,0:84,64:66,78:21,26:-,NM_015149.3(RGL1) c.1614C>T (p.(=)):-,0.23:-,0.280255 1 183876236 . G . . NT END=183881215;NT GT ./. 1 183876287 rs16861715 T C 21 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6887,C/0.3113;Gene=RGL1/NM_001297669.1/0;CC=c.1556+52T>C;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1556+52T>C;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1667+52T>C;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1562+52T>C;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1475+52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:4:0:0:7,8:217,253:20.55,0.00:1.23,0.00:19.32,0.00:0.99,0.00:0.92,0.00:1.00,0.00:60,60:35.3,7.1:0,0:0,0:130,94:20,56:14,14:NM_015149.3(RGL1) c.1667+52T>C,-:0.31,-:0.256188,- 1 183881403 . G . . NT END=183885580;NT GT ./. 1 183885406 rs10911467 A G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7975,G/0.2025;Gene=RGL1/NM_001297669.1/0;CC=c.1744-175A>G;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1744-175A>G;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.1855-175A>G;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.1750-175A>G;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1663-175A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:21:21:0:0:14,7:449,199:0.00,17.44:0.00,17.44:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:2.6,40.4:0,0:0,0:60,26:90,125:28,22:-,NM_015149.3(RGL1) c.1855-175A>G:-,0.22:-,NOT_FOUND 1 183885836 . G . . NT END=183891355;NT GT ./. 1 183886016 rs10797921 A G 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4259,G/0.5741;Gene=RGL1/NM_001297669.1/0;CC=c.1998+181A>G;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1998+181A>G;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.2109+181A>G;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.2004+181A>G;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1917+181A>G;VC=Intron;DM=RGL1/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G,T:16:0:0:0:15,1:445,11:51.15,0.49:0.00,0.00:51.15,0.49:1.00,0.00:0.00,0.00:1.00,0.00:60,60:57.9,46.0:0,0:0,0:97,24:53,126:40,0:NM_015149.3(RGL1) c.2109+181A>G,NM_015149.3(RGL1) c.2109+181A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 183891159 rs11803613 C G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.652,G/0.348;Gene=RGL1/NM_001297669.1/0;CC=c.1999-197C>G;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.1999-197C>G;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.2110-197C>G;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.2005-197C>G;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.1918-197C>G;VC=Intron;DM=RGL1/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,G:11:11:0:0:6,5:177,104:0.00,9.42:0.00,9.42:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:28.2,58.8:0,0:0,0:53,49:98,101:15,15:-,NM_015149.3(RGL1) c.2110-197C>G:-,0.33:-,NOT_FOUND 1 183891471 . G . . NT END=183895238;NT GT ./. 1 183891654 rs140269814 C G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=9;PC=0.022;Gene=RGL1/NM_001297669.1/0;CC=c.2113+184C>G;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.2113+184C>G;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.2224+184C>G;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.2119+184C>G;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.2032+184C>G;VC=Intron;DM=RGL1/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,G:10:0:0:0:6,4:197,131:0.00,12.09:0.00,0.00:0.00,12.09:0.00,0.84:0.00,0.00:0.00,0.84:60,60:9.7,32.8:0,0:0,0:112,84:38,66:29,35:-,NM_015149.3(RGL1) c.2224+184C>G:-,0.0014:-,NOT_FOUND 1 183895178 rs4328036 G A 120 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.4361,A/0.5639;Gene=RGL1/NM_001297669.1/0;CC=c.2114-61G>A;VC=Intron;Gene=RGL1/NM_001297670.1/0;CC=c.2114-61G>A;VC=Intron;Gene=RGL1/NM_015149.4/1;CC=c.2225-61G>A;VC=Intron;Gene=RGL1/NM_001297671.1/0;CC=c.2120-61G>A;VC=Intron;Gene=RGL1/NM_001297672.1/0;CC=c.2033-61G>A;VC=Intron;DM=RGL1/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:30:0:0:31:1049:119.68:94.58:25.10:1.00:1.00:1.00:60:35.9:0:0:59:92:27:NM_015149.3(RGL1) c.2225-61G>A,NM_015149.3(RGL1) c.2225-61G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 183895427 . A . . NT END=183904965;NT GT ./. 1 183905073 rs1053093 C T 209 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=C/0.6601,T/0.3399;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+4642G>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*2822G>A;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*2822G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:156:126:0:0:85,2,69:2644,21,2219:0.00,-0.20,208.91:0.00,-0.02,118.56:0.00,-0.18,90.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.0,104.5,47.1:0,0,0:0,0,0:64,56,53:83,81,96:31,40,31:-,NM_015101.2(GLT25D2) c.*2822G>A:-,0.32:-,NOT_FOUND 1 183905188 rs1053092 G C 234 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=G/0.6585,C/0.3415;PC=0.420;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+4527C>G;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*2707C>G;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*2707C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:155:96:0:0:1,74,80:12,2454,2661:-0.11,234.42,0.00:0.02,126.36,0.00:-0.13,108.06,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:104.0,45.5,8.5:0,0,0:0,0,0:136,88,75:15,47,63:0,32,40:NM_015101.2(GLT25D2) c.*2707C>G,-:0.32,-:NOT_FOUND,- 1 183906009 rs2986573 A G 444 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.273,G/0.727;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+3706T>C;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*1886T>C;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*1886T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:118:66:0:0:118:3878:444.02:193.94:250.08:1.00:1.00:1.00:60:54.4:0:0:75:70:35:NM_015101.2(GLT25D2) c.*1886T>C,NM_015101.2(GLT25D2) c.*1886T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 183906089 rs1112363 A G 404 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=A/0.4515,G/0.5485;PC=0.002;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+3626T>C;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*1806T>C;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*1806T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:109:61:0:0:109:3526:404.49:179.02:225.47:1.00:1.00:1.00:60:54.7:0:0:66:84:36:NM_015101.2(GLT25D2) c.*1806T>C,NM_015101.2(GLT25D2) c.*1806T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 183906371 rs60147949 G A 356 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.4265,A/0.5735;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+3344C>T;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*1524C>T;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*1524C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:99:64:0:0:98,1:3101,10:356.30,0.10:165.35,0.10:190.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,45.0:0,0:0,0:77,57:64,93:33,0:NM_015101.2(GLT25D2) c.*1524C>T,NM_015101.2(GLT25D2) c.*1524C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 183906829 rs3828028 C T 207 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.6573,T/0.3427;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2886G>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*1066G>A;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*1066G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:142:93:0:0:77,65:2374,2182:0.00,206.70:0.00,115.91:0.00,90.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.7,46.6:0,0:0,0:83,71:62,79:32,34:-,NM_015101.2(GLT25D2) c.*1066G>A:-,0.33:-,NOT_FOUND 1 183906925 rs3748552 T C 471 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.4263,C/0.5737;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2790A>G;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*970A>G;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*970A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:133:85:0:0:1,132:11,4086:0.10,470.83:0.00,245.92:0.10,224.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,44.3:0,0:0,0:45,62:103,78:0,39:NM_015101.2(GLT25D2) c.*970A>G,NM_015101.2(GLT25D2) c.*970A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 183907252 rs3828027 A G 302 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.4267,G/0.5733;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2463T>C;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*643T>C;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*643T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:82:49:0:0:1,80,1:12,2666,10:0.00,302.49,0.11:0.00,136.80,-0.01:0.00,165.69,0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:113.0,90.7,163.0:0,0,0:0,0,0:132,68,125:3,81,12:0,33,0:NM_015101.2(GLT25D2) c.*643T>C,NM_015101.2(GLT25D2) c.*643T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 183907291 rs3814332 G A 293 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.4269,A/0.5731;PC=0.008;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2424C>T;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*604C>T;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*604C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:77:42:0:0:77:2560:292.63:121.58:171.05:1.00:1.00:1.00:60:112.5:0:0:83:53:28:NM_015101.2(GLT25D2) c.*604C>T,NM_015101.2(GLT25D2) c.*604C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 183907331 . A AT 53 idl,rn VT=INS;SST=Single;DP=71;NP=11;PC=0.018;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2383dupA;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*563dupA;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*563dupA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:69:38:22:0:48,1,20:1557,9,671:0.00,-0.19,52.94:0.00,-0.01,23.43:0.00,-0.18,29.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:119.4,142.0,150.6:0,0,2:0,0,0:110,99,63:29,13,85:27,0,34:-,NM_015101.2(GLT25D2) c.*563dupA:-,NOT_FOUND:-,NOT_FOUND 1 183907344 rs57324076 A T 197 idl VT=SNV;PN=T;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.3385,T/0.6615;NP=106;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2371T>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*551T>A;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*551T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:24:0:5:54:1717:197.38:66.91:130.47:1.00:1.00:1.00:60:141.1:0:0:80:69:37:NM_015101.2(GLT25D2) c.*551T>A,NM_015101.2(GLT25D2) c.*551T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 183907345 rs75067855 A T 188 idl VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.4249,T/0.5751;NP=67;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2370T>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*550T>A;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*550T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:T:52:23:0:5:52:1633:187.96:60.67:127.29:1.00:1.00:1.00:60:143.7:0:0:81:68:37:NM_015101.2(GLT25D2) c.*550T>A,NM_015101.2(GLT25D2) c.*550T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 183907346 rs79919750 A T 196 idl VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.4267,T/0.5733;NP=32;PC=0.007;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2369T>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*549T>A;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*549T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:A,T:55:26:0:3:1,54:10,1719:0.00,195.87:0.00,66.56:0.00,129.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:175.0,139.1:0,1:0,0:55,82:96,67:0,37:NM_015101.2(GLT25D2) c.*549T>A,NM_015101.2(GLT25D2) c.*549T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 183907670 rs2986575 A G 338 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.2514,C/.,G/0.7486;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+2045T>C;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.*225T>C;VC=3UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.*225T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:91:55:0:0:1,90:9,2974:0.00,338.49:0.00,171.59:0.00,166.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,38.1:0,0:0,0:42,68:109,78:0,35:NM_015101.2(GLT25D2) c.*225T>C,NM_015101.2(GLT25D2) c.*225T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 183908172 . C . . NT END=183909714;NT GT ./. 1 183909530 rs2296711 G A 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7276,A/0.2724;PC=0.147;Gene=COLGALT2/NM_001303420.1/0;CC=c.1604+185C>T;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.1244+185C>T;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.1604+185C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:9,6:282,199:28.11,0.00:28.11,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:31.3,5.3:0,0:0,0:51,56:97,92:22,29:NM_015101.2(GLT25D2) c.1604+185C>T,-:0.27,-:NOT_FOUND,- 1 183909922 . C . . NT END=183913329;NT GT ./. 1 183913458 . C . . NT END=183914565;NT GT ./. 1 183914699 . C . . NT END=183920140;NT GT ./. 1 183920191 rs16861794 T G 116 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.9603,G/0.03974;Gene=COLGALT2/NM_001303420.1/0;CC=c.1086A>C;ProtCh=p.T362=;VC=Silent;Gene=COLGALT2/NM_001303421.1/1;CC=c.726A>C;ProtCh=p.T242=;VC=Silent;Gene=COLGALT2/NM_015101.3/0;CC=c.1086A>C;ProtCh=p.T362=;VC=Silent;DM=COLGALT2/Glyco_transf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:65:37:0:0:37,28:1177,838:116.11,0.00:44.65,0.00:71.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,10.4:0,0:0,0:88,67:61,78:24,24:NM_015101.2(GLT25D2) c.1086A>C (p.(=)),-:0.05,-:0.034907,- 1 183920248 . C . . NT END=183923895;NT GT ./. 1 183920391 rs2986549 C T 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.134,T/0.866;Gene=COLGALT2/NM_001303420.1/0;CC=c.1030-144G>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.670-144G>A;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.1030-144G>A;VC=Intron;DM=COLGALT2/Glyco_transf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:377:43.42:0.00:43.42:1.00:0.00:1.00:60:42.7:0:0:105:44:36:NM_015101.2(GLT25D2) c.1030-144G>A,NM_015101.2(GLT25D2) c.1030-144G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 183923861 rs75151947 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.9942,A/0.005791;NP=59;Gene=COLGALT2/NM_001303420.1/0;CC=c.1029+35C>T;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.669+35C>T;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.1029+35C>T;VC=Intron;DM=COLGALT2/Glyco_transf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:16:0:0:8,10:261,293:24.58,0.00:19.68,0.00:4.90,0.00:0.99,0.00:1.00,0.00:0.91,0.00:60,60:49.6,9.7:0,0:0,0:24,41:124,98:11,24:NM_015101.2(GLT25D2) c.1029+35C>T,-:0.01,-:0.008996,- 1 183923973 . C . . NT END=183933034;NT GT ./. 1 183933155 . C . . NT END=183938402;NT GT ./. 1 183938304 rs4651158 C A 89 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.2306,A/0.7694;PC=0.004;Gene=COLGALT2/NM_001303420.1/0;CC=c.832+99G>T;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.472+99G>T;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.832+99G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:24:0:0:24:774:88.84:88.84:0.00:1.00:1.00:0.00:70:45.8:0:0:54:96:38:NM_015101.2(GLT25D2) c.832+99G>T,NM_015101.2(GLT25D2) c.832+99G>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 183938313 rs199646417 G GTT 64 idl,nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=152;NP=175;Gene=COLGALT2/NM_001303420.1/0;CC=c.832+88_832+89dupAA;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.472+88_472+89dupAA;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.832+88_832+89dupAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:G,GTT:21:26:25:0:2,19:64,773:0.00,63.60:0.00,63.60:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.80:60,70:83.0,55.2:0,6:0,0:64,46:84,105:31,38:-,NM_015101.2(GLT25D2) c.832+89_832+90insAA:-,NOT_FOUND:-,NOT_FOUND 1 183938608 . C . . NT END=183942749;NT GT ./. 1 183942885 . C . . NT END=183944230;NT GT ./. 1 183942950 rs2296714 C T 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5413,T/0.4587;Gene=COLGALT2/NM_001303420.1/0;CC=c.493-66G>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.133-66G>A;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.493-66G>A;VC=Intron;DM=COLGALT2/Glyco_transf_25;DM=COLGALT2/Glyco_tranf_2_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,T:21:4:0:0:5,16:177,494:0.00,51.96:0.00,5.58:0.00,46.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.8,37.1:0,0:0,0:90,100:23,42:37,29:-,NM_015101.2(GLT25D2) c.493-66G>A:-,0.5:-,NOT_FOUND 1 183944089 rs2077202 A C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4876,C/0.5124;Gene=COLGALT2/NM_001303420.1/0;CC=c.492+142T>G;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.132+142T>G;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.492+142T>G;VC=Intron;DM=COLGALT2/Glyco_transf_25;DM=COLGALT2/Glyco_tranf_2_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C:9:9:0:0:3,6:103,175:0.00,17.85:0.00,17.85:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,72.0:0,0:0,0:94,36:56,110:32,5:-,NM_015101.2(GLT25D2) c.492+142T>G:-,0.55:-,NOT_FOUND 1 183944349 . C . . NT END=183947543;NT GT ./. 1 183944444 rs2378795 C T 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4888,T/0.5112;Gene=COLGALT2/NM_001303420.1/0;CC=c.375-96G>A;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.15-96G>A;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.375-96G>A;VC=Intron;DM=COLGALT2/Glyco_transf_25;DM=COLGALT2/Glyco_tranf_2_4;DM=COLGALT2/Glyco_transf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:25:0:0:0:1,9,15:10,275,464:0.15,0.00,46.63:0.00,0.00,0.00:0.15,0.00,46.63:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:20.0,0.9,37.7:0,0,0:0,0,0:9,93,124:141,56,27:0,33,15:-,NM_015101.2(GLT25D2) c.375-96G>A:-,0.55:-,NOT_FOUND 1 183947655 . C . . NT END=184006228;NT GT ./. 1 183947757 rs397744515 G GA 11 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1688;Gene=COLGALT2/NM_001303420.1/0;CC=c.264-104dupT;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.-97-104dupT;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.264-104dupT;VC=Intron;DM=COLGALT2/Glyco_transf_25;DM=COLGALT2/Glyco_tranf_2_4;DM=COLGALT2/Glyco_transf_25;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:G,GA:11:0:4:0:7,4:218,122:0.00,10.98:0.00,0.00:0.00,10.98:0.00,0.82:0.00,0.00:0.00,0.82:60,60:8.0,2.5:0,0:0,0:93,85:58,66:23,38:-,NM_015101.2(GLT25D2) c.264-104_264-103insT:-,0.55:-,NOT_FOUND 1 184006128 rs74767794 A G 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.6947,G/0.3053;Gene=COLGALT2/NM_001303420.1/0;CC=c.263+101T>C;VC=Intron;Gene=COLGALT2/NM_001303421.1/1;CC=c.-98+587T>C;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.263+101T>C;VC=Intron;DM=COLGALT2/Glyco_transf_25;DM=COLGALT2/Glyco_tranf_2_4;DM=COLGALT2/Glyco_transf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:37:0:0:20,18:610,511:0.00,48.25:0.00,43.12:0.00,5.13:0.00,1.00:0.00,1.00:0.00,0.77:60,60:12.2,35.4:0,0:0,0:18,48:131,103:9,35:-,NM_015101.2(GLT25D2) c.263+101T>C:-,0.34:-,NOT_FOUND 1 184006549 rs114661926 C G 363 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=267;DB;DBA=NA;PAF=C/0.7163,G/0.2837;Gene=COLGALT2/NM_001303420.1/0;CC=c.-58G>C;VC=5UTR;Gene=COLGALT2/NM_001303421.1/1;CC=c.-98+166G>C;VC=Intron;Gene=COLGALT2/NM_015101.3/0;CC=c.-58G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:267:194:0:0:143,124:4585,3844:0.00,363.24:0.00,189.49:0.00,173.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,39.8:0,0:0,0:68,65:75,83:31,34:-,NM_015101.2(GLT25D2) c.-58G>C:-,0.31:-,NOT_FOUND 1 184006785 . G . . NT END=184020889;NT GT ./. 1 184006888 rs367707214 AGT A 9 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=7;PC=0.019;Gene=COLGALT2/NM_001303420.1/0;CC=c.-399_-398delAC;VC=5UTR;Gene=COLGALT2/NM_001303421.1/1;CC=c.-273_-272delAC;VC=5UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.-399_-398delAC;VC=5UTR;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:AGT,T,A:39:9:0:7:34,1,4:1013,13,222:0.00,0.01,9.45:0.00,-0.05,-0.22:0.00,0.06,9.67:0.00,0.00,0.58:0.00,0.00,0.54:0.00,0.00,0.93:60,60,60:21.7,81.0,47.0:0,0,3:0,0,0:121,76,59:27,75,90:15,0,14:-,NM_015101.2(GLT25D2) c.-372-u27_-372-u26delAC:-,NOT_FOUND:-,NOT_FOUND 1 184006892 rs1887281 T A 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=22;PC=0.026;Gene=COLGALT2/NM_001303420.1/0;CC=c.-401A>T;VC=5UTR;Gene=COLGALT2/NM_001303421.1/1;CC=c.-275A>T;VC=5UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.-401A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:34:6:0:3:10,1,23:323,11,770:28.27,0.00,0.00:1.34,-0.03,0.00:26.93,0.03,0.00:1.00,0.00,0.00:0.86,0.00,0.00:1.00,0.00,0.00:60,60,60:41.9,178.0,17.0:0,0,4:0,0,0:124,118,95:27,19,56:8,0,34:NM_015101.2(GLT25D2) c.-372-u29A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 184006894 . T A 8 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;PC=0.998;Gene=COLGALT2/NM_001303420.1/0;CC=c.-403A>T;VC=5UTR;Gene=COLGALT2/NM_001303421.1/1;CC=c.-277A>T;VC=5UTR;Gene=COLGALT2/NM_015101.3/0;CC=c.-403A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,T:38:6:0:0:4,34:113,1094:7.70,0.00:-0.17,0.00:7.86,0.00:0.60,0.00:0.46,0.00:0.94,0.00:60,60:35.5,26.2:4,3:0,0:69,119:81,30:11,22:NM_015101.2(GLT25D2) c.-372-u31A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 184020945 rs2274432 G A 778 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=212;DB;DBA=NA;PAF=G/0.6961,A/0.3039;PC=0.001;Gene=TSEN15/NM_001127394.3/0;CC=c.56G>A;ProtCh=p.G19D;VC=Missense;Gene=TSEN15/NM_001300764.1/0;CC=c.56G>A;ProtCh=p.G19D;VC=Missense;Gene=TSEN15/NM_001300766.1/1;CC=c.56G>A;ProtCh=p.G19D;VC=Missense;Gene=TSEN15/NM_052965.3/0;CC=c.56G>A;ProtCh=p.G19D;VC=Missense;Gene=TSEN15/NR_023349.2/0;VC=NonCoding;Gene=TSEN15/NR_125335.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:212:140:0:0:212:6768:777.71:322.82:454.90:1.00:1.00:1.00:60:39.9:0:0:83:65:34:NM_052965.2(TSEN15) c.56G>A (p.Gly19Asp),NM_052965.2(TSEN15) c.56G>A (p.Gly19Asp):0.32,0.32:0.242286,0.242286 1 184021025 . G . . NT END=184023487;NT GT ./. 1 184023529 rs1046934 A C 139 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.6971,C/0.3029,T/.;PC=1.000;Gene=TSEN15/NM_001127394.3/0;CC=c.177A>C;ProtCh=p.Q59H;VC=Missense;Gene=TSEN15/NM_001300764.1/0;CC=c.177A>C;ProtCh=p.Q59H;VC=Missense;Gene=TSEN15/NM_001300766.1/1;CC=c.177A>C;ProtCh=p.Q59H;VC=Missense;Gene=TSEN15/NM_052965.3/0;CC=c.177A>C;ProtCh=p.Q59H;VC=Missense;Gene=TSEN15/NR_023349.2/0;VC=NonCoding;Gene=TSEN15/NR_125335.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:C:38:27:0:0:38:1206:138.55:76.74:61.81:1.00:1.00:1.00:60:35.9:0:0:65:74:24:NM_052965.2(TSEN15) c.177A>C (p.Gln59His),NM_052965.2(TSEN15) c.177A>C (p.Gln59His):0.32,0.32:0.284945,0.284945 1 184023570 . G . . NT END=184023861;NT GT ./. 1 184023998 . G . . NT END=184039749;NT GT ./. 1 184024203 rs397807546 TA T 48 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=TA/0.05032,T/0.9497;DB;DBA=NA;PAF=TA/0.05032,T/0.9497;NP=201;Gene=TSEN15/NM_001127394.3/0;CC=c.353+216delA;VC=Intron;Gene=TSEN15/NM_001300764.1/0;CC=c.353+216delA;VC=Intron;Gene=TSEN15/NM_001300766.1/1;CC=c.353+216delA;VC=Intron;Gene=TSEN15/NM_052965.3/0;CC=c.353+216delA;VC=Intron;Gene=TSEN15/NR_023349.2/0;VC=NonCoding;Gene=TSEN15/NR_125335.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:TA,T:20:0:0:15:5,15:141,458:0.00,48.05:0.00,0.00:0.00,48.05:0.00,1.00:0.00,0.00:0.00,1.00:60,60:25.4,9.6:0,0:0,0:148,108:2,43:1,17:-,NM_052965.2(TSEN15) c.353+207delA:-,NOT_FOUND:-,NOT_FOUND 1 184039867 . G . . NT END=184041290;NT GT ./. 1 184041433 . G . . NT END=184041960;NT GT ./. 1 184041946 . C CT 13 rn VT=INS;SST=Single;DP=39;NP=1;Gene=TSEN15/NM_001127394.3/0;CC=c.354-5dupT;VC=Intron;Gene=TSEN15/NM_001300764.1/0;CC=c.508-5dupT;VC=Intron;Gene=TSEN15/NM_001300766.1/1;CC=c.392-5dupT;VC=Intron;Gene=TSEN15/NM_052965.3/0;CC=c.496-5dupT;VC=Intron;Gene=TSEN15/NR_023349.2/0;VC=NonCoding;Gene=TSEN15/NR_125335.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,CT,D:39:31:5:1:33,5,1:1131,166,33:0.00,12.56,1.82:0.00,6.19,0.89:0.00,6.37,0.93:0.00,0.77,0.00:0.00,0.95,0.00:0.00,0.94,0.00:60,60,60:10.5,6.8,33.0:0,0,0:0,0,0:58,40,10:92,67,141:30,27,0:-,NM_052965.2(TSEN15) c.496-15_496-14insT:-,NOT_FOUND:-,NOT_FOUND 1 184041998 . T . . NT END=184446643;NT GT ./. 1 184042058 rs11549003 T C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.9766,C/0.02336;PC=0.403;Gene=TSEN15/NM_001127394.3/0;CC=c.*61T>C;VC=3UTR;Gene=TSEN15/NM_001300764.1/0;CC=c.*77T>C;VC=3UTR;Gene=TSEN15/NM_001300766.1/1;CC=c.*84T>C;VC=3UTR;Gene=TSEN15/NM_052965.3/0;CC=c.*77T>C;VC=3UTR;Gene=TSEN15/NR_023349.2/0;VC=NonCoding;Gene=TSEN15/NR_125335.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:8:0:0:8,8:242,266:23.19,0.00:9.65,0.00:13.54,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:35.0,4.2:0,0:0,0:99,112:51,36:24,14:NM_052965.2(TSEN15) c.*77T>C,-:0.03,-:0.052343,- 1 184354140 rs10535468 TACAC T 19 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=91;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:5:5:163:18.68:11.33:7.35:1.00:1.00:1.00:60:28.8:0:0:75:75:8:NM_030806.3(C1orf21) c.-477-u2009_-477-u2006delACAC,NM_030806.3(C1orf21) c.-477-u2009_-477-u2006delACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 184444868 rs141490807 GGTGT G 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=22;PC=0.016;Gene=C1orf21/NM_030806.3/1;CC=c.-124-1607_-124-1604delGTGT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GGTGT,G:4:4:0:4:1,3:34,115:0.00,8.87:0.00,4.88:0.00,3.98:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,32.0:0,1:0,0:58,56:30,94:0,14:-,NM_030806.3(C1orf21) c.-124-1651_-124-1648delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 184446738 . G . . NT END=184476721;NT GT ./. 1 184476621 rs9633308 T C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4225,C/0.5775;PC=0.001;Gene=C1orf21/NM_030806.3/1;CC=c.95-101T>C;VC=Intron;DM=C1orf21/DUF4612 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:10:10:0:0:3,7:103,198:9.08,0.00:9.08,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:60,60:55.0,17.9:0,0:0,0:14,64:137,87:2,33:NM_030806.3(C1orf21) c.95-101T>C,-:0.57,-:NOT_FOUND,- 1 184476817 . G . . NT END=184559872;NT GT ./. 1 184559950 . G . . NT END=184567534;NT GT ./. 1 184560216 rs1339573 T A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.365,A/0.635;Gene=C1orf21/NM_030806.3/1;CC=c.266+267T>A;VC=Intron;DM=C1orf21/DUF4612 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,T:6:0:0:0:5,1:139,29:15.08,0.00:0.00,0.00:15.08,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:79.0,19.0:0,0:0,0:106,110:44,41:25,0:NM_030806.3(C1orf21) c.266+267T>A,-:0.62,-:NOT_FOUND,- 1 184567463 rs10465489 G T 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5901,T/0.4099;PC=0.060;Gene=C1orf21/NM_030806.3/1;CC=c.267-72G>T;VC=Intron;DM=C1orf21/DUF4612 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:24:0:0:17,10:587,315:0.00,28.54:0.00,24.63:0.00,3.91:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.9,33.4:0,0:0,0:44,31:106,119:22,28:-,NM_030806.3(C1orf21) c.267-72G>T:-,0.39:-,NOT_FOUND 1 184567596 . G . . NT END=184588651;NT GT ./. 1 184585860 rs55938251 C CGT 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.9988,T/0.001198;DB;DBA=NA;PAF=NA;NP=1;NP=151;NP=66;Gene=C1orf21/NM_030806.3/1;CC=c.328-2772_328-2771insGT;VC=Intron;DM=C1orf21/DUF4612;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,CGT:5:4:4:0:1,4:31,132:0.00,14.02:0.00,4.82:0.00,9.20:0.00,0.96:0.00,1.00:0.00,1.00:60,60:0.0,0.0:0,0:0,0:150,81:1,58:0,18:-,NM_030806.3(C1orf21) c.328-2792_328-2791insGT:-,NOT_FOUND:-,NOT_FOUND 1 184588691 . C . . NT END=184663196;NT GT ./. 1 184588710 rs16823344 A C 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.9327,C/0.06729;PC=0.999;Gene=C1orf21/NM_030806.3/1;CC=c.*20A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:23:0:0:15,15:473,472:0.00,45.29:0.00,20.23:0.00,25.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,41.1:0,0:0,0:112,106:36,45:27,13:-,NM_030806.3(C1orf21) c.*20A>C:-,0.07:-,0.055436 1 184663537 rs9425343 A C 111 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.6466,C/0.3534;PC=0.003;Gene=EDEM3/NM_025191.3/1;CC=c.2459T>G;ProtCh=p.I820S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:71:38:0:0:35,36:1108,1156:0.00,111.35:0.00,34.41:0.00,76.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.7,58.2:0,0:0,0:80,82:61,68:38,35:-,NM_025191.3(EDEM3) c.2459T>G (p.Ile820Ser):-,0.34:-,0.286373 1 184663581 rs9425634 T C 97 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.5779,C/0.4221;PC=0.520;Gene=EDEM3/NM_025191.3/1;CC=c.2415A>G;ProtCh=p.Q805=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:29:0:0:30,36:1024,1187:96.92,0.00:29.89,0.00:67.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.9,1.7:0,0:0,0:102,77:47,68:26,43:NM_025191.3(EDEM3) c.2415A>G (p.(=)),-:0.41,-:0.375173,- 1 184663607 . C . . NT END=184670630;NT GT ./. 1 184663643 rs34236444 TA T 43 rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=TA/0.5661,T/0.4339;NP=1565;Gene=EDEM3/NM_025191.3/1;CC=c.2390-38delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:42:15:0:15:27,15:907,478:0.00,43.07:0.00,12.66:0.00,30.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,46.9:0,0:0,0:90,117:58,33:23,21:-,NM_025191.3(EDEM3) c.2390-38delT:-,0.42:-,0.378464 1 184663898 rs9425635 C T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5527,T/0.4473;Gene=EDEM3/NM_025191.3/1;CC=c.2390-292G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,T:4:0:0:0:2,2:60,68:0.00,6.55:0.00,0.00:0.00,6.55:0.00,0.51:0.00,0.00:0.00,0.51:60,60:39.0,34.0:0,0:0,0:105,129:44,21:4,9:-,NM_025191.3(EDEM3) c.2390-292G>A:-,0.43:-,NOT_FOUND 1 184670679 . C . . NT END=184671944;NT GT ./. 1 184672131 . C . . NT END=184675776;NT GT ./. 1 184675814 rs1062994 G A 155 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.6494,A/0.3506;PC=1.000;Gene=EDEM3/NM_025191.3/1;CC=c.2166C>T;ProtCh=p.N722=;VC=Silent;DM=EDEM3/PA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:97:72:0:0:51,46:1598,1566:154.91,0.00:78.80,0.00:76.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,4.8:0,0:0,0:69,73:82,74:32,38:NM_025191.3(EDEM3) c.2166C>T (p.(=)),-:0.34,-:0.284484,- 1 184675943 . C . . NT END=184677286;NT GT ./. 1 184677464 rs3736757 G A 117 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.348,A/0.652;PC=0.661;Gene=EDEM3/NM_025191.3/1;CC=c.1860C>T;ProtCh=p.I620=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:43:0:0:39,50:1253,1676:117.37,0.00:30.83,0.00:86.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,1.2:0,0:0,0:106,86:43,54:22,26:NM_025191.3(EDEM3) c.1860C>T (p.(=)),-:0.6,-:0.58259,- 1 184677479 . C . . NT END=184679527;NT GT ./. 1 184679685 . C . . NT END=184680856;NT GT ./. 1 184680829 . T C 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;Gene=EDEM3/NM_025191.3/1;CC=c.1691+28A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:42:0:0:25,25:810,804:77.84,0.00:51.30,0.00:26.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,7.7:0,0:0,0:56,65:95,86:19,36:NM_025191.3(EDEM3) c.1691+28A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 184681012 . C . . NT END=184681566;NT GT ./. 1 184681065 rs35621191 A AT 7 rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=2;PC=0.229;Gene=EDEM3/NM_025191.3/1;CC=c.1537-55_1537-54insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,AT,D:30:12:3:3:24,3,3:742,100,97:0.00,7.34,7.04:0.00,2.51,2.51:0.00,4.83,4.53:0.00,0.43,0.00:0.00,0.64,0.00:0.00,0.81,0.00:60,60,60:13.2,33.7,11.7:0,0,0:0,0,0:123,105,109:28,45,42:20,7,10:-,NM_025191.3(EDEM3) c.1537-55_1537-54insA:-,NOT_FOUND:-,NOT_FOUND 1 184681081 rs7525074 A G 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.3472,G/0.6528;Gene=EDEM3/NM_025191.3/1;CC=c.1537-70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:12:0:0:14,12:419,341:0.00,32.00:0.00,6.46:0.00,25.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.6,38.8:0,0:0,0:98,92:43,59:39,31:-,NM_025191.3(EDEM3) c.1537-70T>C:-,0.6:-,NOT_FOUND 1 184681733 . C . . NT END=184686021;NT GT ./. 1 184681802 rs4651230 T C 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.647,C/0.353;Gene=EDEM3/NM_025191.3/1;CC=c.1371-70A>G;VC=Intron;DM=EDEM3/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:12:0:0:25,18:809,570:80.06,0.00:11.28,0.00:68.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,7.6:0,0:0,0:89,117:44,32:30,12:NM_025191.3(EDEM3) c.1371-70A>G,-:0.34,-:NOT_FOUND,- 1 184686147 . C . . NT END=184686673;NT GT ./. 1 184686758 . C . . NT END=184688295;NT GT ./. 1 184688380 . C . . NT END=184688576;NT GT ./. 1 184688703 . C . . NT END=184690422;NT GT ./. 1 184690521 . C . . NT END=184692884;NT GT ./. 1 184692991 . C . . NT END=184695388;NT GT ./. 1 184692999 rs71101940 T TA 21 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.9623,A/0.03774;DB;DBA=NA;PAF=T/0.5605,TA/0.4395;DB;DBA=NA;PAF=T/0.5605,TA/0.4395,TAA/.,TAAA/.,TTA/.;NP=2;NP=2;NP=63;PC=0.072;Gene=EDEM3/NM_025191.3/1;CC=c.748-10_748-9insT;VC=Intron;DM=EDEM3/Glyco_hydro_47;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:30:24:10:5:20,8,2:544,312,156:0.00,21.05,3.97:0.00,7.94,-0.24:0.00,13.12,4.21:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.99,0.00:60,60,60:21.8,39.2,26.5:0,2,3:0,0,0:97,76,97:36,73,51:24,29,21:-,NM_025191.3(EDEM3) c.748-10_748-9insT:-,NOT_FOUND:-,NOT_FOUND 1 184695524 . C . . NT END=184701970;NT GT ./. 1 184695571 rs10752941 C T 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.3514,T/0.6486;Gene=EDEM3/NM_025191.3/1;CC=c.613-48G>A;VC=Intron;DM=EDEM3/Glyco_hydro_47;DM=EDEM3/PA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:17:0:0:32,23:1006,758:0.00,70.55:0.00,27.88:0.00,42.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,43.0:0,0:0,0:95,89:53,61:27,32:-,NM_025191.3(EDEM3) c.613-48G>A:-,0.6:-,0.57768 1 184702125 . C . . NT END=184703664;NT GT ./. 1 184703778 . C . . NT END=184706158;NT GT ./. 1 184706199 . C . . NT END=184706744;NT GT ./. 1 184706212 rs397692142 GT G 44 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=GT/0.357,G/0.643;DB;DBA=NA;PAF=GT/0.357,G/0.643;NP=2458;PC=0.994;Gene=EDEM3/NM_025191.3/1;CC=c.306-15delA;VC=Intron;DM=EDEM3/Glyco_hydro_47;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:29:18:0:14:15,14:459,456:0.00,43.56:0.00,15.11:0.00,28.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,2.7:0,0:0,0:80,89:71,44:20,35:-,NM_025191.3(EDEM3) c.306-15delA:-,0.59:-,0.575724 1 184706846 . C . . NT END=184718680;NT GT ./. 1 184718727 . C . . NT END=184723622;NT GT ./. 1 184718750 rs575668352 GAAA G 26 idl,nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=41;PC=0.963;Gene=EDEM3/NM_025191.3/1;CC=c.159-27_159-25delTTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:GAAA,I,G:21:17:3:16:9,3,9:228,102,396:0.00,8.37,26.27:0.00,7.14,10.30:0.00,1.23,15.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:36.6,6.7,22.1:0,0,4:0,0,0:95,96,67:55,33,77:7,22,16:-,NM_025191.3(EDEM3) c.159-27_159-25delTTT:-,NOT_FOUND:-,NOT_FOUND 1 184723781 . G . . NT END=184764110;NT GT ./. 1 184765232 . C . . NT END=184767212;NT GT ./. 1 184767280 . A G 64 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=42;NP=2;PC=0.020;Gene=FAM129A/NM_052966.3/1;CC=c.1599T>C;ProtCh=p.N533=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:31:0:0:22,20:728,674:0.00,64.32:0.00,33.65:0.00,30.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,34.5:0,0:0,0:70,66:65,79:20,25:-,NM_052966.2(FAM129A) c.1599T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 184767325 . C . . NT END=184772718;NT GT ./. 1 184772827 . C . . NT END=184775079;NT GT ./. 1 184775191 . C . . NT END=184777207;NT GT ./. 1 184777370 . C . . NT END=184787771;NT GT ./. 1 184787960 . C . . NT END=184792300;NT GT ./. 1 184792464 . C . . NT END=184792771;NT GT ./. 1 184792877 . C . . NT END=184800980;NT GT ./. 1 184800757 rs484847 T C 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2226,C/0.7774;Gene=FAM129A/NM_052966.3/1;CC=c.717+224A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:249:28.24:28.24:0.00:1.00:1.00:0.00:60:46.9:0:0:45:106:23:NM_052966.2(FAM129A) c.717+224A>G,NM_052966.2(FAM129A) c.717+224A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 184801097 . C . . NT END=184836997;NT GT ./. 1 184837178 . G . . NT END=184853766;NT GT ./. 1 184853935 . C . . NT END=184859241;NT GT ./. 1 184859357 . C . . NT END=184863208;NT GT ./. 1 184863341 . C . . NT END=184868311;NT GT ./. 1 184868443 . C . . NT END=184943433;NT GT ./. 1 184943184 rs234109 A G 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5104,G/0.4896;Gene=FAM129A/NM_052966.3/1;CC=c.55+250T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:116:13.50:13.50:0.00:1.00:1.00:0.00:60:63.5:0:0:64:87:20:NM_052966.2(FAM129A) c.55+250T>C,NM_052966.2(FAM129A) c.55+250T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 1 184943489 . G . . NT END=185056685;NT GT ./. 1 185056773 . G . . NT END=185060696;NT GT ./. 1 185060872 . G . . NT END=185062192;NT GT ./. 1 185060950 rs201420664 CT C 13 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=67;PC=0.002;Gene=RNF2/NM_007212.3/1;CC=c.248+93delT;VC=Intron;DM=RNF2/zf-C3HC4;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:CT,T,I,C:34:3:4:7:24,1,4,5:799,12,124,223:0.00,0.05,9.27,12.64:0.00,-0.03,-0.13,-0.16:0.00,0.08,9.39,12.81:0.00,0.00,0.00,0.78:0.00,0.00,0.00,0.41:0.00,0.00,0.00,0.98:60,60,60,60:8.5,34.0,15.8,12.4:0,0,0,2:0,0,0,0:123,4,106,110:28,146,44,40:18,0,7,14:-,NM_007212.3(RNF2) c.248+80delT:-,NOT_FOUND:-,NOT_FOUND 1 185061145 rs12563135 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7023,T/0.2977;PC=0.001;Gene=RNF2/NM_007212.3/1;CC=c.248+274C>T;VC=Intron;DM=RNF2/zf-C3HC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:4:0:0:0:2,2:64,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,56.5:0,0:0,0:56,85:93,65:19,28:-,NM_007212.3(RNF2) c.248+274C>T:-,0.27:-,NOT_FOUND 1 185062409 . G . . NT END=185067203;NT GT ./. 1 185067477 . G . . NT END=185068922;NT GT ./. 1 185069095 . G . . NT END=185069331;NT GT ./. 1 185069434 . G . . NT END=185089150;NT GT ./. 1 185089404 . C . . NT END=185089514;NT GT ./. 1 185089642 . C . . NT END=185092988;NT GT ./. 1 185089901 rs6700484 C G 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4752,G/0.5248;PC=0.789;Gene=TRMT1L/NM_030934.4/1;CC=c.1823-260G>C;VC=Intron;Gene=TRMT1L/NM_001202423.1/0;CC=c.1355-260G>C;VC=Intron;DM=TRMT1L/TRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:118:13.69:0.00:13.69:1.00:0.00:1.00:60:36.2:0:0:83:66:41:NM_030934.4(TRMT1L) c.1823-260G>C,NM_030934.4(TRMT1L) c.1823-260G>C:0.51,0.51:NOT_FOUND,NOT_FOUND 1 185093052 . C . . NT END=185094075;NT GT ./. 1 185094243 . C . . NT END=185097800;NT GT ./. 1 185094277 rs7523448 G T 186 nt VT=SNV;PN=T;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.6847,T/0.3153;Gene=TRMT1L/NM_030934.4/1;CC=c.1593-35C>A;VC=Intron;Gene=TRMT1L/NM_001202423.1/0;CC=c.1125-35C>A;VC=Intron;DM=TRMT1L/TRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:T:53:21:0:0:53:1611:186.24:50.82:135.42:1.00:1.00:1.00:60:39.9:0:0:102:43:28:NM_030934.4(TRMT1L) c.1593-35C>A,NM_030934.4(TRMT1L) c.1593-35C>A:0.3,0.3:0.377358,0.377358 1 185097880 . C . . NT END=185106737;NT GT ./. 1 185106929 . C . . NT END=185108498;NT GT ./. 1 185108712 . C . . NT END=185109104;NT GT ./. 1 185109355 . C . . NT END=185112488;NT GT ./. 1 185112569 . C . . NT END=185113037;NT GT ./. 1 185113162 . C . . NT END=185114570;NT GT ./. 1 185114701 . C . . NT END=185116313;NT GT ./. 1 185114837 rs6684586 G A 56 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5827,A/0.4173;PC=0.480;Gene=TRMT1L/NM_030934.4/1;CC=c.526-137C>T;VC=Intron;Gene=TRMT1L/NM_001202423.1/0;CC=c.58-137C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:0:0:0:15:485:55.65:0.00:55.65:1.00:0.00:1.00:60:38.1:0:0:93:58:31:NM_030934.4(TRMT1L) c.526-137C>T,NM_030934.4(TRMT1L) c.526-137C>T:0.3,0.3:NOT_FOUND,NOT_FOUND 1 185116379 . C . . NT END=185119510;NT GT ./. 1 185119625 . C . . NT END=185120956;NT GT ./. 1 185119794 rs1544051 C T 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.0009984,T/0.999;NP=1088;Gene=TRMT1L/NM_030934.4/1;CC=c.347-170G>A;VC=Intron;Gene=TRMT1L/NM_001202423.1/0;CC=c.-122-170G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:414:47.98:0.00:47.98:1.00:0.00:1.00:60:55.5:0:0:117:33:27:NM_030934.4(TRMT1L) c.347-170G>A,NM_030934.4(TRMT1L) c.347-170G>A:1,1:NOT_FOUND,NOT_FOUND 1 185119849 rs3753569 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4802,C/0.5198;PC=0.003;Gene=TRMT1L/NM_030934.4/1;CC=c.347-225A>G;VC=Intron;Gene=TRMT1L/NM_001202423.1/0;CC=c.-122-225A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:128:15.06:0.00:15.06:1.00:0.00:1.00:60:75.8:0:0:105:46:32:NM_030934.4(TRMT1L) c.347-225A>G,NM_030934.4(TRMT1L) c.347-225A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 1 185121068 . C . . NT END=185125609;NT GT ./. 1 185125845 . A . . NT END=185129973;NT GT ./. 1 185129763 rs6699626 G C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6567,C/0.3433;PC=0.002;Gene=SWT1/NM_001105518.1/0;CC=c.-9-202G>C;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.-9-202G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:39.0:0:0:122:29:8:NM_017673.6(SWT1) c.-9-202G>C,NM_017673.6(SWT1) c.-9-202G>C:0.34,0.34:NOT_FOUND,NOT_FOUND 1 185130058 . G . . NT END=185135703;NT GT ./. 1 185135745 rs950327 A G 125 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.655,G/0.345;PC=0.001;Gene=SWT1/NM_001105518.1/0;CC=c.126A>G;ProtCh=p.S42=;VC=Silent;Gene=SWT1/NM_017673.6/1;CC=c.126A>G;ProtCh=p.S42=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:22:0:0:33:1097:125.43:56.93:68.50:1.00:1.00:1.00:60:35.4:0:0:56:88:30:NM_017673.6(SWT1) c.126A>G (p.(=)),NM_017673.6(SWT1) c.126A>G (p.(=)):0.34,0.34:0.3755,0.3755 1 185135785 . G . . NT END=185137471;NT GT ./. 1 185137454 rs58809696 T TAAATGATAGAC 35 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1;PC=0.007;Gene=SWT1/NM_001105518.1/0;CC=c.166-18_166-17insAAATGATAGAC;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.166-18_166-17insAAATGATAGAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAAATGATAGAC:18:15:11:0:7,11:220,351:0.00,35.13:0.00,23.57:0.00,11.57:0.00,1.00:0.00,1.00:0.00,0.99:60,60:24.0,44.8:0,0:0,0:122,56:1,94:4,25:-,NM_017673.6(SWT1) c.166-18_166-17insAAATGATAGAC:-,NOT_FOUND:-,NOT_FOUND 1 185137461 rs56166198 A T 48 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4748,T/0.5252;PC=0.874;Gene=SWT1/NM_001105518.1/0;CC=c.166-11A>T;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.166-11A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:9:0:0:13:420:48.19:32.78:15.41:1.00:1.00:1.00:60:52.0:12:0:74:76:26:NM_017673.6(SWT1) c.166-11A>T,NM_017673.6(SWT1) c.166-11A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 185137464 rs59365489 T A,TAA 42 idl,nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.963 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,TAA:13:9:12:0:1,12:34,369:2.76,42.20:2.76,28.34:0.00,13.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:102.0,47.8:0,0:0,0:104,75:46,73:0,27:NM_017673.6(SWT1) c.166-8T>A,NM_017673.6(SWT1) c.166-8_166-7insAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 185137531 . G . . NT END=185143503;NT GT ./. 1 185137628 rs10797999 C T 54 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4649,T/0.5351;PC=0.180;Gene=SWT1/NM_001105518.1/0;CC=c.224+98C>T;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.224+98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:3:0:0:15:473:54.45:5.62:48.83:1.00:1.00:1.00:60:42.1:0:0:100:51:28:NM_017673.6(SWT1) c.224+98C>T,NM_017673.6(SWT1) c.224+98C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 185143721 rs10489579 A G 145 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.5653,G/0.4347;PC=0.955;Gene=SWT1/NM_001105518.1/0;CC=c.442A>G;ProtCh=p.I148V;VC=Missense;Gene=SWT1/NM_017673.6/1;CC=c.442A>G;ProtCh=p.I148V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:63:0:0:38,44:1243,1482:0.00,144.57:0.00,85.53:0.00,59.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,42.6:0,0:0,0:56,84:93,66:33,32:-,NM_017673.6(SWT1) c.442A>G (p.Ile148Val):-,0.42:-,0.451561 1 185144246 . G . . NT END=185145683;NT GT ./. 1 185144347 rs6696591 T G 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SWT1/NM_001105518.1/0;CC=c.966+102T>G;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.966+102T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T,I:22:2:2:0:11,9,2:356,293,67:34.82,0.00,5.20:1.84,0.00,1.42:32.98,0.00,3.78:1.00,0.00,0.00:0.79,0.00,0.00:1.00,0.00,0.00:60,60,60:36.9,48.2,42.0:0,0,0:0,0,0:96,124,62:55,27,87:17,22,31:NM_017673.6(SWT1) c.966+102T>G,-:0.36,-:NOT_FOUND,- 1 185145857 . c . . NT END=185146113;NT GT ./. 1 185146115 rs71555459 T TA 43 idl,rn VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;Gene=SWT1/NM_001105518.1/0;CC=c.966+1888_966+1889insA;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.966+1888_966+1889insA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:44:44:18:7:24,15,5:716,570,194:0.00,42.86,9.23:0.00,40.42,2.05:0.00,2.43,7.18:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,70,60:16.2,28.9,107.8:0,3,2:0,0,0:81,45,43:68,105,108:28,21,22:-,NM_017673.6(SWT1) c.966+1870_966+1871insA:-,NOT_FOUND:-,NOT_FOUND 1 185146151 . G . . NT END=185149522;NT GT ./. 1 185149583 . G . . NT END=185151077;NT GT ./. 1 185151211 . G . . NT END=185153374;NT GT ./. 1 185153477 . G . . NT END=185153874;NT GT ./. 1 185153545 . G GT 30 nt VT=INS;SST=Single;DP=14;NP=1487;Gene=SWT1/NM_001105518.1/0;CC=c.1240+69_1240+70insT;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.1240+69_1240+70insT;VC=Intron;DM=SWT1/PIN_4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:G,GT:14:2:9:0:5,9:151,292:0.00,29.53:0.00,7.27:0.00,22.26:0.00,1.00:0.00,0.89:0.00,1.00:60,60:4.6,5.7:0,0:0,0:57,76:94,75:16,21:-,NM_017673.6(SWT1) c.1240+69_1240+70insT:-,0.45:-,NOT_FOUND 1 185154064 . G . . NT END=185159680;NT GT ./. 1 185159775 . G . . NT END=185171785;NT GT ./. 1 185171869 rs6698109 A G 49 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.7244,G/0.2756;PC=0.844;Gene=SWT1/NM_001105518.1/0;CC=c.1607A>G;ProtCh=p.H536R;VC=Missense;Gene=SWT1/NM_017673.6/1;CC=c.1607A>G;ProtCh=p.H536R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:26:0:0:29,16:942,536:0.00,48.52:0.00,12.25:0.00,36.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,38.1:0,0:0,0:96,54:54,96:22,22:-,NM_017673.6(SWT1) c.1607A>G (p.His536Arg):-,0.28:-,0.317392 1 185171932 . G . . NT END=185173831;NT GT ./. 1 185173996 . G . . NT END=185175756;NT GT ./. 1 185175896 . G . . NT END=185183638;NT GT ./. 1 185176015 rs2146328 A G 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.5641,G/0.4359;Gene=SWT1/NM_001105518.1/0;CC=c.1972+120A>G;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.1972+120A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:1:0:0:11,7:348,241:0.00,22.22:0.00,1.83:0.00,20.38:0.00,0.98:0.00,0.59:0.00,0.98:60,60:1.1,36.0:0,0:0,0:101,91:49,60:28,56:-,NM_017673.6(SWT1) c.1972+120A>G:-,0.42:-,NOT_FOUND 1 185183788 . G . . NT END=185190980;NT GT ./. 1 185191169 . G . . NT END=185200708;NT GT ./. 1 185195953 rs3766717 C T 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5647,T/0.4353;PC=0.992;Gene=SWT1/NM_001105518.1/0;CC=c.2310-4756C>T;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.2310-4756C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:26:0:0:16,14:487,460:0.00,43.67:0.00,30.69:0.00,12.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,52.9:0,0:0,0:49,44:92,104:17,19:-,NM_017673.6(SWT1) c.2310-4756C>T:-,0.42:-,NOT_FOUND 1 185200841 . G . . NT END=185233446;NT GT ./. 1 185201061 rs12096987 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5134,C/0.4866;Gene=SWT1/NM_001105518.1/0;CC=c.2441+221T>C;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.2441+221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,C,T:11:0:0:0:1,6,4:8,186,129:0.21,18.51,0.00:0.00,0.00,0.00:0.21,18.51,0.00:0.00,0.98,0.00:0.00,0.00,0.00:0.00,0.98,0.00:60,60,60:27.0,44.8,32.5:0,0,0:0,0,0:124,66,117:27,84,22:0,8,16:NM_017673.6(SWT1) c.2441+221T>C,-:0.47,-:NOT_FOUND,- 1 185233322 . CT C 7 rn VT=DEL;SST=Single;DP=11;NP=4;PC=0.415;Gene=SWT1/NM_001105518.1/0;CC=c.2442-7122delT;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.2442-7122delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:CT,I,C:11:11:1:3:7,1,3:239,33,84:0.00,2.45,7.17:0.00,2.45,7.17:0.00,0.00,0.00:0.00,0.00,0.60:0.00,0.00,0.60:0.00,0.00,0.00:60,60,60:38.1,54.0,6.0:0,0,0:0,0,0:20,105,65:124,45,86:13,0,19:-,NM_017673.6(SWT1) c.2442-7132delT:-,NOT_FOUND:-,NOT_FOUND 1 185233647 . g . . NT END=185240454;NT GT ./. 1 185240474 rs12041704 A G 31 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.652,G/0.348;PC=1.000;Gene=SWT1/NM_001105518.1/0;CC=c.2461A>G;ProtCh=p.N821D;VC=Missense;Gene=SWT1/NM_017673.6/1;CC=c.2461A>G;ProtCh=p.N821D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:21:0:0:23,11:743,355:0.00,31.45:0.00,7.23:0.00,24.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,35.5:0,0:0,0:65,68:84,78:28,11:-,NM_017673.6(SWT1) c.2461A>G (p.Asn821Asp):-,0.35:-,0.374343 1 185240522 . G . . NT END=185245735;NT GT ./. 1 185245801 . G . . NT END=185259805;NT GT ./. 1 185245948 rs116096037 C T 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9952,T/0.004792;NP=22;PC=0.004;Gene=SWT1/NM_001105518.1/0;CC=c.2573+148C>T;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.2573+148C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:C,T:11:0:0:0:5,6:173,194:0.00,18.97:0.00,0.00:0.00,18.97:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.0,35.3:0,0:0,0:84,90:66,60:13,22:-,NM_017673.6(SWT1) c.2573+148C>T:-,0.01:-,NOT_FOUND 1 185259731 rs2378909 A G 77 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6176,G/0.3824;PC=0.304;Gene=SWT1/NM_001105518.1/0;CC=c.2574-75A>G;VC=Intron;Gene=SWT1/NM_017673.6/1;CC=c.2574-75A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:32:0:0:11,22:361,753:0.00,76.67:0.00,76.20:0.00,0.47:0.00,1.00:0.00,1.00:0.00,0.93:60,60:14.8,42.8:0,0:0,0:65,40:85,109:24,23:-,NM_017673.6(SWT1) c.2574-75A>G:-,0.37:-,NOT_FOUND 1 185259936 . G . . NT END=185267166;NT GT ./. 1 185267114 rs10174 A G 54 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.5617,G/0.4383;PC=1.000;Gene=IVNS1ABP/NM_006469.4/1;CC=c.*53T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:34:0:0:20,18:610,569:0.00,54.08:0.00,40.52:0.00,13.56:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.0,40.0:0,0:0,0:60,33:89,117:32,21:-,NM_006469.4(IVNS1ABP) c.*53T>C:-,0.42:-,NOT_FOUND 1 185267421 . C . . NT END=185268841;NT GT ./. 1 185269016 . C . . NT END=185269130;NT GT ./. 1 185269100 . TA T 13 rn VT=DEL;SST=Single;DP=72;NP=39;Gene=IVNS1ABP/NM_006469.4/1;CC=c.1501+30delT;VC=Intron;DM=IVNS1ABP/Kelch_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,TA,I,T:72:48:2:6:2,62,2,6:65,1920,59,192:3.59,0.00,3.00,13.25:1.68,0.00,-0.45,9.02:1.91,0.00,3.45,4.24:0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.88:60,60,60,60:32.5,12.2,48.0,6.2:0,1,0,0:0,0,0,0:69,90,105,100:82,60,44,50:64,37,19,25:-,NM_006469.4(IVNS1ABP) c.1501+30delT:-,NOT_FOUND:-,NOT_FOUND 1 185269263 . C . . NT END=185269348;NT GT ./. 1 185269476 . C . . NT END=185269568;NT GT ./. 1 185269691 . C . . NT END=185270103;NT GT ./. 1 185269916 rs10798006 T C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4427,C/0.5573;Gene=IVNS1ABP/NM_006469.4/1;CC=c.1120+188A>G;VC=Intron;DM=IVNS1ABP/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:C,T:11:4:0:0:4,7:120,216:10.78,0.00:6.38,0.00:4.40,0.00:0.82,0.00:0.84,0.00:0.94,0.00:60,60:41.2,30.4:0,0:0,0:60,105:90,45:40,32:NM_006469.4(IVNS1ABP) c.1120+188A>G,-:0.53,-:NOT_FOUND,- 1 185270329 . C . . NT END=185270565;NT GT ./. 1 185270696 . C . . NT END=185274646;NT GT ./. 1 185274776 . C . . NT END=185275616;NT GT ./. 1 185275758 . C . . NT END=185276145;NT GT ./. 1 185276272 . C . . NT END=185276620;NT GT ./. 1 185276795 . C . . NT END=185277931;NT GT ./. 1 185278008 . C . . NT END=185278134;NT GT ./. 1 185278305 . C . . NT END=185278514;NT GT ./. 1 185278626 . T . . NT END=185703911;NT GT ./. 1 185667655 rs558625478 C CT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7372,CT/0.2628;DB;DBA=NA;PAF=C/0.7372,CT/0.2628;NP=3;NP=50;PC=0.001;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:C,CT,D:4:1:2:1:1,2,1:36,66,24:0.00,6.65,2.15:0.00,3.48,0.00:0.00,3.17,2.15:0.00,0.51,0.00:0.00,0.67,0.00:0.00,0.89,0.00:60,60,60:0.0,30.0,33.0:0,0,0:0,0,0:21,62,21:130,89,129:0,5,0:-,chr1 g.185667655_185667656insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 185704180 . G . . NT END=185815157;NT GT ./. 1 185756273 rs74135322 A ATG 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=50;NP=6;Gene=HMCN1/NM_031935.2/1;CC=c.268+52132_268+52133insTG;VC=Intron;DM=HMCN1/VWA_2;DM=HMCN1/EGF_CA;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,ATG:5:3:3:0:2,3:55,98:0.00,9.77:0.00,3.16:0.00,6.61:0.00,0.78:0.00,0.94:0.00,0.97:60,60:17.0,14.3:0,0:0,0:47,88:103,62:1,11:-,NM_031935.2(HMCN1) c.268+52094_268+52095insTG:-,NOT_FOUND:-,NOT_FOUND 1 185815229 . G . . NT END=185833601;NT GT ./. 1 185828260 rs59835697 TTG T 9 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TTG/0.7831,T/0.2169;DB;DBA=NA;PAF=TTG/0.7831,T/0.2169;NP=177;PC=0.001;Gene=HMCN1/NM_031935.2/1;CC=c.340-5310_340-5309delGT;VC=Intron;DM=HMCN1/VWA_2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:TTG,T:9:3:0:5:5,4:150,98:0.00,8.99:0.00,1.05:0.00,7.94:0.00,0.85:0.00,0.84:0.00,0.97:60,60:17.6,1.8:0,0:0,0:63,110:77,36:41,1:-,NM_031935.2(HMCN1) c.340-5341_340-5340delTG:-,NOT_FOUND:-,NOT_FOUND 1 185833362 rs7545771 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=HMCN1/NM_031935.2/1;CC=c.340-240T>C;VC=Intron;DM=HMCN1/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:4:4:0:0:2,2:69,68:6.65,0.00:6.65,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:50.5,0.0:0,0:0,0:51,94:99,57:19,29:NM_031935.2(HMCN1) c.340-240T>C,-:0.57,-:NOT_FOUND,- 1 185833565 rs7556537 A C 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.39,C/0.61;Gene=HMCN1/NM_031935.2/1;CC=c.340-37A>C;VC=Intron;DM=HMCN1/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:49:44:0:0:29,20:943,645:0.00,59.63:0.00,48.66:0.00,10.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,47.7:0,0:0,0:29,54:122,96:22,34:-,NM_031935.2(HMCN1) c.340-37A>C:-,0.57:-,0.592803 1 185833761 . G . . NT END=185834872;NT GT ./. 1 185833880 rs41458549 A G 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8123,G/0.1877;Gene=HMCN1/NM_031935.2/1;CC=c.498+120A>G;VC=Intron;DM=HMCN1/VWA_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:1:0:0:8,15:255,497:0.00,50.40:0.00,1.95:0.00,48.45:0.00,1.00:0.00,0.77:0.00,1.00:60,60:2.9,36.6:0,0:0,0:98,86:52,62:31,38:-,NM_031935.2(HMCN1) c.498+120A>G:-,0.18:-,NOT_FOUND 1 185834714 . TACACACACAC T 9 idl,nt VT=DEL;SST=Single;DP=17;NP=7;Gene=HMCN1/NM_031935.2/1;CC=c.499-119_499-110delCACACACACA;VC=Intron;DM=HMCN1/VWA_2;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,TACACACACAC,I,T:15:16:3:5:1,8,3,3:33,269,100,169:2.34,0.00,8.50,8.60:-0.20,0.00,8.54,7.08:2.54,0.00,-0.04,1.52:0.00,0.00,0.00,0.53:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.49:60,70,60,60:125.0,19.4,48.0,10.3:1,0,0,2:0,0,0,0:88,84,46,37:57,61,105,113:0,23,3,14:-,NM_031935.2(HMCN1) c.499-158_499-149delACACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 185834847 rs532543556 GTTTC G 27 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=574;Gene=HMCN1/NM_031935.2/1;CC=c.499-22_499-19delCTTT;VC=Intron;DM=HMCN1/VWA_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTTTC,T,G:32:21:0:11:20,1,11:659,10,310:0.00,-0.02,27.48:0.00,-0.18,12.85:0.00,0.16,14.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,70:17.5,29.0,19.5:5,0,0:0,0,0:55,60,89:91,90,62:21,0,43:-,NM_031935.2(HMCN1) c.499-25_499-22delTTTC:-,NOT_FOUND:-,NOT_FOUND 1 185834851 . CT C 14 idl,rn VT=DEL;SST=Single;DP=21;NP=34;Gene=HMCN1/NM_031935.2/1;CC=c.499-9delT;VC=Intron;DM=HMCN1/VWA_2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:CT,T,C:21:14:0:18:15,1,5:469,31,164:0.00,1.94,13.91:0.00,2.08,8.36:0.00,-0.14,5.55:0.00,0.00,0.85:0.00,0.00,0.95:0.00,0.00,0.90:60,60,60:21.7,31.0,4.4:0,0,0:0,0,0:61,150,58:86,1,93:21,0,14:-,NM_031935.2(HMCN1) c.499-21delT:-,NOT_FOUND:-,NOT_FOUND 1 185834996 . G . . NT END=185878468;NT GT ./. 1 185878641 . G . . NT END=185880805;NT GT ./. 1 185880913 . G . . NT END=185891510;NT GT ./. 1 185891632 . G . . NT END=185892521;NT GT ./. 1 185892786 . G . . NT END=185894178;NT GT ./. 1 185894324 . G . . NT END=185897677;NT GT ./. 1 185897800 . G . . NT END=185902680;NT GT ./. 1 185902957 . G . . NT END=185931649;NT GT ./. 1 185931792 . G . . NT END=185932899;NT GT ./. 1 185933028 . G . . NT END=185934933;NT GT ./. 1 185935048 . G . . NT END=185939466;NT GT ./. 1 185939626 . G . . NT END=185946918;NT GT ./. 1 185939796 rs372725145 CT C 14 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=HMCN1/NM_031935.2/1;CC=c.2371+183delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:2.2:0:0:47:102:11:NM_031935.2(HMCN1) c.2371+172delT,NM_031935.2(HMCN1) c.2371+172delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 185947114 . G . . NT END=185950109;NT GT ./. 1 185950206 . G . . NT END=185951393;NT GT ./. 1 185951134 rs12134019 C T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9451,T/0.05491;PC=0.002;Gene=HMCN1/NM_031935.2/1;CC=c.2663-260C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:6:6:0:0:3,3:102,98:0.00,9.42:0.00,9.42:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,58.7:0,0:0,0:78,17:73,134:2,4:-,NM_031935.2(HMCN1) c.2663-260C>T:-,0.08:-,NOT_FOUND 1 185951522 . G . . NT END=185953300;NT GT ./. 1 185951573 . C CT 18 idl,rn VT=INS;SST=Single;DP=38;NP=1;PC=0.029;Gene=HMCN1/NM_031935.2/1;CC=c.2790+67_2790+68insT;VC=Intron;DM=HMCN1/I-set;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T,CT,D:38:16:7:6:24,1,7,6:727,33,221,198:0.00,1.92,18.18,16.07:0.00,-0.11,3.83,0.78:0.00,2.03,14.36,15.29:0.00,0.00,0.94,0.00:0.00,0.00,0.92,0.00:0.00,0.00,0.99,0.00:60,60,60,60:18.4,59.0,22.6,7.5:0,1,0,0:0,0,0,0:111,33,73,68:32,118,78,75:17,0,10,29:-,NM_031935.2(HMCN1) c.2790+52_2790+53insT:-,NOT_FOUND:-,NOT_FOUND 1 185953446 . G . . NT END=185956563;NT GT ./. 1 185956677 . G . . NT END=185958619;NT GT ./. 1 185958780 . G . . NT END=185959406;NT GT ./. 1 185958904 . AT A 12 idl,rn VT=DEL;SST=Single;DP=27;NP=2;Gene=HMCN1/NM_031935.2/1;CC=c.3208+146delT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:AT,T,I,A:25:1:2:7:15,3,2,5:382,32,53,202:0.00,1.20,3.50,11.51:0.00,-0.05,-0.03,-0.09:0.00,1.25,3.54,11.59:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.46:0.00,0.00,0.00,0.98:60,60,60,60:18.7,120.7,51.5,45.2:0,0,0,2:0,0,0,0:141,51,60,60:8,100,90,88:7,41,3,24:-,NM_031935.2(HMCN1) c.3208+126delT:-,NOT_FOUND:-,NOT_FOUND 1 185959576 . G . . NT END=185962313;NT GT ./. 1 185962442 . G . . NT END=185963946;NT GT ./. 1 185964220 . G . . NT END=185966560;NT GT ./. 1 185966657 . G . . NT END=185969176;NT GT ./. 1 185969372 . G . . NT END=185970429;NT GT ./. 1 185969717 rs187651198 G A,GTGTA 8 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:11:A,G,GTGTA:5:1:3:0:1,1,3:33,22,80:2.98,0.00,8.36:-0.10,0.00,-0.40:3.08,0.00,8.76:0.00,0.00,0.78:0.00,0.00,0.73:0.00,0.00,0.97:60,60,70:90.0,0.0,62.7:0,0,0:0,0,0:127,148,113:23,3,38:0,0,25:NM_031935.2(HMCN1) c.4069+346G>A,NM_031935.2(HMCN1) c.4069+346_4069+347insTGTA:0.03,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 185970561 . G . . NT END=185970725;NT GT ./. 1 185970874 . G . . NT END=185972849;NT GT ./. 1 185972977 . G . . NT END=185976259;NT GT ./. 1 185976415 . G . . NT END=185984290;NT GT ./. 1 185984517 rs6665753 T C 75 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.6569,C/0.3431;PC=0.002;Gene=HMCN1/NM_031935.2/1;CC=c.4857T>C;ProtCh=p.H1619=;VC=Silent;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:31:0:0:26,37:809,1175:74.77,0.00:33.96,0.00:40.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,6.4:0,0:0,0:82,80:66,70:33,25:NM_031935.2(HMCN1) c.4857T>C (p.(=)),-:0.34,-:0.346432,- 1 185984570 . G . . NT END=185985089;NT GT ./. 1 185985372 . G . . NT END=185986094;NT GT ./. 1 185985931 rs980947 C G 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6324,G/0.3676,T/.;Gene=HMCN1/NM_031935.2/1;CC=c.5192-164C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:5:5:0:0:2,3:67,82:0.00,8.16:0.00,8.16:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:34.0,64.7:0,0:0,0:23,68:127,83:6,23:-,NM_031935.2(HMCN1) c.5192-164C>G:-,0.37:-,NOT_FOUND 1 185986204 . G . . NT END=185987314;NT GT ./. 1 185987485 . G . . NT END=185988672;NT GT ./. 1 185988567 rs11290212 CT C 22 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1759;PC=0.016;Gene=HMCN1/NM_031935.2/1;CC=c.5471-95delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:13:13:0:7:6,7:200,227:0.00,22.14:0.00,22.14:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:45.0,11.9:0,0:0,0:69,38:81,112:43,23:-,NM_031935.2(HMCN1) c.5471-105delT:-,NOT_FOUND:-,NOT_FOUND 1 185988828 . G . . NT END=185992161;NT GT ./. 1 185992286 . G . . NT END=186007065;NT GT ./. 1 185992420 rs201015583 GT G 9 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=7;Gene=HMCN1/NM_031935.2/1;CC=c.5749+151delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:GT,I,G:11:0:2:4:5,2,4:139,66,103:0.00,5.64,9.47:0.00,0.00,0.00:0.00,5.64,9.47:0.00,0.00,0.82:0.00,0.00,0.00:0.00,0.00,0.82:60,60,70:11.0,0.0,67.8:0,0,0:0,0,0:113,94,98:37,57,52:35,12,10:-,NM_031935.2(HMCN1) c.5749+136delT:-,NOT_FOUND:-,NOT_FOUND 1 186007168 . G . . NT END=186007960;NT GT ./. 1 186008138 . G . . NT END=186008859;NT GT ./. 1 186009012 . G . . NT END=186010144;NT GT ./. 1 186010269 . G . . NT END=186014819;NT GT ./. 1 186014996 . G . . NT END=186017874;NT GT ./. 1 186017972 . G . . NT END=186022083;NT GT ./. 1 186022032 rs10911808 T G 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.3253,G/0.6747;Gene=HMCN1/NM_031935.2/1;CC=c.6578-52T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:28:0:0:12,17:383,571:35.47,0.00:29.16,0.00:6.31,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:34.2,4.1:0,0:0,0:40,36:100,114:24,16:NM_031935.2(HMCN1) c.6578-52T>G,-:0.67,-:0.637251,- 1 186022207 . G . . NT END=186022956;NT GT ./. 1 186023119 . G . . NT END=186024524;NT GT ./. 1 186024807 . G . . NT END=186026365;NT GT ./. 1 186025005 rs7520459 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.382,A/0.618;Gene=HMCN1/NM_031935.2/1;CC=c.7144+199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:6:0:0:0:3,3:98,107:9.42,0.00:0.00,0.00:9.42,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:32.7,0.0:0,0:0,0:62,77:89,74:37,7:NM_031935.2(HMCN1) c.7144+199G>A,-:0.62,-:NOT_FOUND,- 1 186026163 rs59360106 TCA T 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=131;PC=0.118;Gene=HMCN1/NM_031935.2/1;CC=c.7145-168_7145-167delCA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:TCA,T:8:7:0:3:5,3:147,96:0.00,8.73:0.00,9.04:0.00,-0.31:0.00,0.67:0.00,0.95:0.00,0.67:60,60:34.4,6.7:2,0:0,0:78,101:73,50:28,6:-,NM_031935.2(HMCN1) c.7145-202_7145-201delCA:-,NOT_FOUND:-,NOT_FOUND 1 186026167 rs201168043 A T 10 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HMCN1/NM_031935.2/1;CC=c.7145-199A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,T:7:7:0:1:4,3:136,105:0.00,9.86:0.00,9.98:0.00,-0.12:0.00,0.69:0.00,0.69:0.00,0.62:60,60:15.5,6.7:0,3:0,0:80,103:70,48:30,6:-,NM_031935.2(HMCN1) c.7145-199A>T:-,NOT_FOUND:-,NOT_FOUND 1 186026474 rs12129650 T C 40 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.47,C/0.53;PC=1.000;Gene=HMCN1/NM_031935.2/1;CC=c.7253T>C;ProtCh=p.I2418T;VC=Missense;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:25:0:0:13,28:451,896:40.20,0.00:13.48,0.00:26.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,2.9:0,0:0,0:81,71:69,72:36,41:NM_031935.2(HMCN1) c.7253T>C (p.Ile2418Thr),-:0.55,-:0.525373,- 1 186026534 . G . . NT END=186030982;NT GT ./. 1 186030902 rs10737266 G T 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=HMCN1/NM_031935.2/1;CC=c.7313-81G>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:16:0:0:9,9:276,310:0.00,29.88:0.00,30.63:0.00,-0.75:0.00,1.00:0.00,1.00:0.00,0.89:60,60:17.1,41.7:0,0:0,0:24,45:127,105:21,29:-,NM_031935.2(HMCN1) c.7313-81G>T:-,0.63:-,NOT_FOUND 1 186031041 rs7522627 C T 114 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.3456,T/0.6544;PC=0.918;Gene=HMCN1/NM_031935.2/1;CC=c.7371C>T;ProtCh=p.C2457=;VC=Silent;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:46:0:0:28,36:928,1156:0.00,113.67:0.00,50.39:0.00,63.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,35.0:0,0:0,0:78,70:60,70:24,31:-,NM_031935.2(HMCN1) c.7371C>T (p.(=)):-,0.64:-,0.628402 1 186031097 . G . . NT END=186031645;NT GT ./. 1 186031733 . G . . NT END=186034369;NT GT ./. 1 186034562 . G . . NT END=186036965;NT GT ./. 1 186037140 . G . . NT END=186038794;NT GT ./. 1 186038909 . G . . NT END=186039743;NT GT ./. 1 186039006 rs761905 C T 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3486,T/0.6514;PC=0.003;Gene=HMCN1/NM_031935.2/1;CC=c.7993+98C>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,G,T:10:0:0:0:2,1,7:66,10,232:0.00,0.47,24.41:0.00,0.00,0.00:0.00,0.47,24.41:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:0.0,71.0,35.7:0,0,0:0,0,0:96,106,134:54,45,17:46,0,15:-,NM_031935.2(HMCN1) c.7993+98C>T:-,0.65:-,NOT_FOUND 1 186039890 . G . . NT END=186043872;NT GT ./. 1 186040062 rs10911811 G C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3478,C/0.6522;Gene=HMCN1/NM_031935.2/1;CC=c.8139+173G>C;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,G:9:0:0:0:4,5:125,161:11.72,0.00:0.00,0.00:11.72,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:31.2,0.0:0,0:0,0:81,87:69,63:30,30:NM_031935.2(HMCN1) c.8139+173G>C,-:0.65,-:NOT_FOUND,- 1 186044024 . G . . NT END=186045559;NT GT ./. 1 186044237 rs975398 G A 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3468,A/0.6532;Gene=HMCN1/NM_031935.2/1;CC=c.8290+214G>A;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:8:0:0:0:5,3:168,104:16.89,0.00:0.00,0.00:16.89,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.6,0.0:0,0:0,0:99,74:51,77:28,18:NM_031935.2(HMCN1) c.8290+214G>A,-:0.65,-:NOT_FOUND,- 1 186045755 . G . . NT END=186047238;NT GT ./. 1 186047353 . G . . NT END=186050338;NT GT ./. 1 186050417 rs10798035 A G 86 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=in-clinvar;PAF=A/0.4173,G/0.5827;PC=1.000;Gene=HMCN1/NM_031935.2/1;CC=c.8678A>G;ProtCh=p.E2893G;VC=Missense;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:47:0:0:35,28:1183,914:0.00,85.96:0.00,47.28:0.00,38.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,39.2:0,0:0,0:54,42:97,97:24,25:-,NM_031935.2(HMCN1) c.8678A>G (p.Glu2893Gly):-,0.59:-,0.554975 1 186050527 . G . . NT END=186051996;NT GT ./. 1 186052094 . G . . NT END=186055377;NT GT ./. 1 186055177 rs6425016 A G 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3339,G/0.6661;Gene=HMCN1/NM_031935.2/1;CC=c.8885-201A>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:7:7:0:0:3,4:78,116:0.00,11.44:0.00,11.44:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:10.0,37.2:0,0:0,0:109,105:42,45:1,34:-,NM_031935.2(HMCN1) c.8885-201A>G:-,0.66:-,NOT_FOUND 1 186055371 rs6425017 A G 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.3387,G/0.6613;PC=0.002;Gene=HMCN1/NM_031935.2/1;CC=c.8885-7A>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:38:0:0:20,21:647,711:0.00,68.75:0.00,55.72:0.00,13.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,37.3:0,0:0,0:46,41:82,110:32,34:-,NM_031935.2(HMCN1) c.8885-7A>G:-,0.65:-,0.628114 1 186055540 . G . . NT END=186056348;NT GT ./. 1 186056463 . G . . NT END=186056574;NT GT ./. 1 186056778 . G . . NT END=186057063;NT GT ./. 1 186057146 . G . . NT END=186057276;NT GT ./. 1 186057181 rs10911816 T C 123 nt VT=SNV;PN=C;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.3135,C/0.6865;PC=0.012;Gene=HMCN1/NM_031935.2/1;CC=c.9445+36T>C;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:52:0:0:40,28:1235,899:122.53,0.00:69.27,0.00:53.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,4.2:0,0:0,0:57,74:94,76:38,39:NM_031935.2(HMCN1) c.9445+36T>C,-:0.67,-:0.63909,- 1 186057409 . G . . NT END=186057737;NT GT ./. 1 186057888 . G . . NT END=186059889;NT GT ./. 1 186060050 . G . . NT END=186062265;NT GT ./. 1 186062391 . G . . NT END=186062617;NT GT ./. 1 186062802 . G . . NT END=186063407;NT GT ./. 1 186063506 . G . . NT END=186064374;NT GT ./. 1 186064654 . G . . NT END=186072603;NT GT ./. 1 186064760 rs1022671 A T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.3393,T/0.6607;Gene=HMCN1/NM_031935.2/1;CC=c.10573+107A>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:38:2:0:0:20,18:604,542:0.00,51.36:0.00,3.31:0.00,48.05:0.00,1.00:0.00,0.77:0.00,1.00:60,60:14.3,62.7:0,0:0,0:72,111:78,39:39,17:-,NM_031935.2(HMCN1) c.10573+107A>T:-,0.65:-,NOT_FOUND 1 186064781 rs2180480 A T 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.3466,T/0.6534;PC=0.039;Gene=HMCN1/NM_031935.2/1;CC=c.10573+128A>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:33:0:0:0:17,16:487,470:0.00,44.69:0.00,0.00:0.00,44.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.0,70.1:0,0:0,0:89,120:62,30:29,21:-,NM_031935.2(HMCN1) c.10573+128A>T:-,0.65:-,NOT_FOUND 1 186064858 rs61831302 A C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7951,C/0.2049;PC=0.009;Gene=HMCN1/NM_031935.2/1;CC=c.10573+205A>C;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,C,T:9:0:0:0:4,4,1:106,115,7:0.00,10.97,0.14:0.00,0.00,0.00:0.00,10.97,0.14:0.00,0.85,0.00:0.00,0.00,0.00:0.00,0.85,0.00:60,60,60:56.8,85.5,128.0:0,0,0:0,0,0:133,80,45:16,70,104:4,34,0:-,NM_031935.2(HMCN1) c.10573+205A>C:-,0.23:-,NOT_FOUND 1 186064868 rs1022670 A G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3409,C/.,G/0.6591;PC=0.005;Gene=HMCN1/NM_031935.2/1;CC=c.10573+215A>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:8:0:0:0:3,5:66,140:0.00,14.08:0.00,0.00:0.00,14.08:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.7,94.0:0,0:0,0:140,75:10,75:8,31:-,NM_031935.2(HMCN1) c.10573+215A>G:-,0.65:-,NOT_FOUND 1 186072801 . G . . NT END=186076015;NT GT ./. 1 186076098 . G . . NT END=186077592;NT GT ./. 1 186076291 rs6701244 C T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4623,T/0.5377;PC=0.001;Gene=HMCN1/NM_031935.2/1;CC=c.10852+194C>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:0:0:0:1,3:36,88:0.00,9.25:0.00,0.00:0.00,9.25:0.00,0.85:0.00,0.00:0.00,0.85:54,60:0.0,33.3:0,0:0,0:32,77:119,74:0,19:-,NM_031935.2(HMCN1) c.10852+194C>T:-,0.56:-,NOT_FOUND 1 186077302 rs7511761 C A 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3293,A/0.6707;Gene=HMCN1/NM_031935.2/1;CC=c.10853-291C>A;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,C:5:5:0:0:3,2:99,67:9.87,0.00:9.87,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:36.3,12.5:0,0:0,0:29,59:121,91:13,22:NM_031935.2(HMCN1) c.10853-291C>A,-:0.66,-:NOT_FOUND,- 1 186077463 rs1555495 A G 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.3668,G/0.6332;Gene=HMCN1/NM_031935.2/1;CC=c.10853-130A>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:30:0:0:18,12:578,385:0.00,35.46:0.00,33.84:0.00,1.62:0.00,1.00:0.00,1.00:0.00,0.80:60,60:15.4,35.6:0,0:0,0:61,49:88,101:26,26:-,NM_031935.2(HMCN1) c.10853-130A>G:-,0.63:-,NOT_FOUND 1 186077730 . G . . NT END=186081943;NT GT ./. 1 186081918 rs7555520 C T 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.3139,T/0.6861;PC=0.003;Gene=HMCN1/NM_031935.2/1;CC=c.10990-26C>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:54:0:0:36,22:1226,655:0.00,59.25:0.00,53.44:0.00,5.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,41.6:0,0:0,0:52,60:92,87:24,20:-,NM_031935.2(HMCN1) c.10990-26C>T:-,0.67:-,0.638551 1 186082086 . G . . NT END=186083110;NT GT ./. 1 186083256 . G . . NT END=186083950;NT GT ./. 1 186083534 rs12078938 C T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4563,T/0.5437;Gene=HMCN1/NM_031935.2/1;CC=c.11276+279C>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,T:4:0:0:0:2,2:37,68:0.00,6.61:0.00,0.00:0.00,6.61:0.00,0.51:0.00,0.00:0.00,0.51:60,60:30.5,66.5:0,0:0,0:115,109:35,41:8,32:-,NM_031935.2(HMCN1) c.11276+279C>T:-,0.57:-,NOT_FOUND 1 186084079 . G . . NT END=186084389;NT GT ./. 1 186084547 . G . . NT END=186086125;NT GT ./. 1 186085897 rs720972 C A 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3145,A/0.6855;Gene=HMCN1/NM_031935.2/1;CC=c.11562-229C>A;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:A,C:8:8:0:0:6,2:203,23:21.27,0.00:21.27,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.8,142.5:0,0:0,0:50,83:101,67:9,1:NM_031935.2(HMCN1) c.11562-229C>A,-:0.67,-:NOT_FOUND,- 1 186086248 . G . . NT END=186086590;NT GT ./. 1 186086331 . C CT 9 rn VT=INS;SST=Single;DP=48;NP=2;PC=0.050;Gene=HMCN1/NM_031935.2/1;CC=c.11683+95_11683+96insT;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,CT:48:20:4:0:44,4:1402,133:0.00,9.24:0.00,4.89:0.00,4.35:0.00,0.94:0.00,0.71:0.00,0.88:60,60:13.6,0.0:0,0:0,0:109,82:40,68:24,34:-,NM_031935.2(HMCN1) c.11683+84_11683+85insT:-,NOT_FOUND:-,NOT_FOUND 1 186086578 rs10157742 G A 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.3245,A/0.6755,T/.;PC=0.518;Gene=HMCN1/NM_031935.2/1;CC=c.11684-13G>A;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:50:38:0:0:22,1,27:712,10,913:67.05,-0.06,0.00:44.04,-0.13,0.00:23.01,0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.9,10.0,7.9:0,0,0:0,0,0:42,70,57:94,81,92:24,0,35:NM_031935.2(HMCN1) c.11684-13G>A,-:0.67,-:0.632631,- 1 186086756 . G . . NT END=186088322;NT GT ./. 1 186088431 . G . . NT END=186088876;NT GT ./. 1 186089015 . G . . NT END=186089142;NT GT ./. 1 186089278 . G . . NT END=186092082;NT GT ./. 1 186092353 . G . . NT END=186094735;NT GT ./. 1 186094927 . G . . NT END=186097209;NT GT ./. 1 186097424 . G . . NT END=186099097;NT GT ./. 1 186099233 . G . . NT END=186099638;NT GT ./. 1 186099830 . G . . NT END=186101459;NT GT ./. 1 186101542 . G . . NT END=186105799;NT GT ./. 1 186105949 rs146552651 G A 153 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=3;Gene=HMCN1/NM_031935.2/1;CC=c.13462G>A;ProtCh=p.V4488M;VC=Missense;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:88:50:0:0:49,38,1:1557,1142,26:153.17,0.00,0.97:53.88,0.00,1.05:99.29,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.7,8.6,32.0:0,0,0:0,0,0:85,72,34:63,74,117:37,38,0:NM_031935.2(HMCN1) c.13462G>A (p.Val4488Met),-:0.0009,-:0.000846,- 1 186106070 . G . . NT END=186106629;NT GT ./. 1 186106801 . G . . NT END=186106933;NT GT ./. 1 186106861 rs41317501 C T 191 nt VT=SNV;PN=A;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.9786,T/0.02137;Gene=HMCN1/NM_031935.2/1;CC=c.13753+61C>T;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:102:65:0:0:1,41,60:10,1266,1922:-0.08,0.00,191.18:0.01,0.00,99.96:-0.09,0.00,91.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:109.0,2.8,38.7:0,0,0:0,0,0:41,72,67:83,79,82:0,51,40:-,NM_031935.2(HMCN1) c.13753+61C>T:-,0.02:-,NOT_FOUND 1 186107105 . G . . NT END=186113304;NT GT ./. 1 186113476 . G . . NT END=186113664;NT GT ./. 1 186113836 . G . . NT END=186114534;NT GT ./. 1 186113852 rs17531405 G C 112 nt VT=SNV;PN=A;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.9323,C/0.06769;PC=0.947;Gene=HMCN1/NM_031935.2/1;CC=c.14266+17G>C;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:72:24:0:0:36,36:1161,1193:111.55,0.00:21.16,0.00:90.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,5.1:0,0:0,0:100,100:44,50:22,29:NM_031935.2(HMCN1) c.14266+17G>C,-:0.1,-:0.1344,- 1 186114706 . G . . NT END=186114884;NT GT ./. 1 186115056 . G . . NT END=186120331;NT GT ./. 1 186115161 rs558084693 G GA 9 idl,rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;PC=0.001;Gene=HMCN1/NM_031935.2/1;CC=c.14608+120dupA;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/G2F;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G,GA,D:26:2:6:2:3,18,4,1:63,553,186,33:4.02,0.00,9.43,2.05:-0.07,0.00,-0.10,-0.02:4.09,0.00,9.53,2.07:0.00,0.00,0.66,0.00:0.00,0.00,0.39,0.00:0.00,0.00,0.95,0.00:60,60,60,60:72.7,12.0,30.5,25.0:3,0,2,0:0,0,0,0:83,131,92,130:68,19,58,21:13,17,11,0:-,NM_031935.2(HMCN1) c.14608+106_14608+107insA:-,NOT_FOUND:-,NOT_FOUND 1 186120139 rs1322376 T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7901,G/0.2099;PC=0.973;Gene=HMCN1/NM_031935.2/1;CC=c.14609-193T>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/G2F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:G,T:11:11:0:0:4,7:88,209:7.55,0.00:7.55,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:41.8,5.9:0,0:0,0:34,36:116,114:6,6:NM_031935.2(HMCN1) c.14609-193T>G,-:0.22,-:NOT_FOUND,- 1 186120482 . G . . NT END=186120737;NT GT ./. 1 186120876 . G . . NT END=186121881;NT GT ./. 1 186120982 rs80159306 G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9792,A/0.02077;Gene=HMCN1/NM_031935.2/1;CC=c.14896+107G>A;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/G2F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,G:15:4:0:0:6,9:183,291:16.78,0.00:3.11,0.00:13.67,0.00:0.96,0.00:0.87,0.00:0.96,0.00:60,60:32.5,1.0:0,0:0,0:110,118:40,33:29,27:NM_031935.2(HMCN1) c.14896+107G>A,-:0.04,-:NOT_FOUND,- 1 186122004 . G . . NT END=186122881;NT GT ./. 1 186123120 . G . . NT END=186134242;NT GT ./. 1 186134306 . G . . NT END=186135315;NT GT ./. 1 186135231 rs78002252 A C 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.9369,C/0.0631;Gene=HMCN1/NM_031935.2/1;CC=c.15320-85A>C;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:29:0:0:12,18:362,604:0.00,60.25:0.00,51.46:0.00,8.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,75.7:0,0:0,0:64,32:86,117:32,14:-,NM_031935.2(HMCN1) c.15320-85A>C:-,0.09:-,NOT_FOUND 1 186135236 rs6425021 G A 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.6971,A/0.3029;Gene=HMCN1/NM_031935.2/1;CC=c.15320-80G>A;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:30:0:0:19,12:568,400:56.84,0.00:48.50,0.00:8.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.6,5.4:0,0:0,0:39,69:112,81:19,27:NM_031935.2(HMCN1) c.15320-80G>A,-:0.3,-:NOT_FOUND,- 1 186135436 . G . . NT END=186135939;NT GT ./. 1 186136075 . G . . NT END=186140468;NT GT ./. 1 186136289 rs7549613 T C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6713,C/0.3287;Gene=HMCN1/NM_031935.2/1;CC=c.15574+215T>C;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:7:0:0:0:4,3:126,98:12.43,0.00:0.00,0.00:12.43,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:31.5,0.0:0,0:0,0:62,119:88,32:20,21:NM_031935.2(HMCN1) c.15574+215T>C,-:0.32,-:NOT_FOUND,- 1 186140583 . G . . NT END=186141137;NT GT ./. 1 186140907 rs11582026 A G 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6843,G/0.3157;PC=0.001;Gene=HMCN1/NM_031935.2/1;CC=c.15689-231A>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:7:4:0:0:3,4:95,127:0.00,12.53:0.00,5.63:0.00,6.90:0.00,0.90:0.00,0.97:0.00,0.93:60,60:7.3,97.2:0,0:0,0:60,61:91,89:35,55:-,NM_031935.2(HMCN1) c.15689-231A>G:-,0.31:-,NOT_FOUND 1 186141264 . G . . NT END=186143645;NT GT ./. 1 186141301 rs4651302 G A 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.3444,A/0.6556;Gene=HMCN1/NM_031935.2/1;CC=c.15814+38G>A;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:28:0:0:23,42:734,1416:66.04,0.00:20.54,0.00:45.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,5.9:0,0:0,0:100,95:47,52:29,23:NM_031935.2(HMCN1) c.15814+38G>A,-:0.64,-:0.589882,- 1 186143775 . G . . NT END=186147547;NT GT ./. 1 186144104 rs911743 A C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6847,C/0.3153;PC=0.012;Gene=HMCN1/NM_031935.2/1;CC=c.15943+330A>C;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:4:0:0:0:1,3:31,103:0.00,10.75:0.00,0.00:0.00,10.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,34.3:0,0:0,0:5,106:146,42:0,6:-,NM_031935.2(HMCN1) c.15943+330A>C:-,0.31:-,NOT_FOUND 1 186147899 . G . . NT END=186151299;NT GT ./. 1 186151122 rs77504596 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9353,G/0.0647;PC=0.473;Gene=HMCN1/NM_031935.2/1;CC=c.16295-178A>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:6:6:0:0:3,3:94,103:0.00,9.93:0.00,9.93:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:23.7,38.0:0,0:0,0:62,13:89,138:21,9:-,NM_031935.2(HMCN1) c.16295-178A>G:-,0.09:-,NOT_FOUND 1 186151420 . G . . NT END=186157014;NT GT ./. 1 186151493 rs16825040 C G 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7716,G/0.2284;Gene=HMCN1/NM_031935.2/1;CC=c.16414+74C>G;VC=Intron;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;DM=HMCN1/cEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:3:0:0:8,16:224,531:0.00,54.12:0.00,5.57:0.00,48.55:0.00,1.00:0.00,0.97:0.00,1.00:60,60:33.1,51.4:0,0:0,0:80,87:68,64:49,28:-,NM_031935.2(HMCN1) c.16414+74C>G:-,0.24:-,NOT_FOUND 1 186157142 . G . . NT END=186158643;NT GT ./. 1 186159011 . G . . NT END=186266007;NT GT ./. 1 186163963 rs548452669 TAC T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TAC/0.4629,T/0.5371;DB;DBA=NA;PAF=TAC/0.4629,T/0.5371;NP=50;PC=0.010;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TAC,T:5:5:0:3:2,3:67,97:0.00,9.67:0.00,4.44:0.00,5.23:0.00,0.78:0.00,0.78:0.00,0.94:60,60:0.0,0.0:0,0:0,0:71,55:80,82:45,14:-,chr1 g.186163964_186163965delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 186265948 rs1293987 T A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2768,A/0.7232;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.-30-30T>A;VC=Intron;Gene=PRG4/NM_001127709.2/0;CC=c.-30-30T>A;VC=Intron;Gene=PRG4/NM_001127710.2/0;CC=c.-30-30T>A;VC=Intron;Gene=PRG4/NM_001303232.1/0;CC=c.-30-30T>A;VC=Intron;Gene=PRG4/NM_005807.4/1;CC=c.-30-30T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,T:9:9:0:0:6,3:205,104:20.87,0.00:15.84,0.00:5.04,0.00:0.99,0.00:0.99,0.00:0.93,0.00:60,60:45.8,0.0:0,0:0,0:62,43:88,108:50,16:NM_005807.3(PRG4) c.-30-30T>A,-:0.7,-:0.581253,- 1 186266084 . G . . NT END=186269222;NT GT ./. 1 186266293 rs1293988 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2636,G/0.7364;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.76+210A>G;VC=Intron;Gene=PRG4/NM_001127709.2/0;CC=c.76+210A>G;VC=Intron;Gene=PRG4/NM_001127710.2/0;CC=c.76+210A>G;VC=Intron;Gene=PRG4/NM_001303232.1/0;CC=c.76+210A>G;VC=Intron;Gene=PRG4/NM_005807.4/1;CC=c.76+210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:4:0:0:0:2,2:68,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:4.5,35.0:0,0:0,0:91,44:59,106:12,25:-,NM_005807.3(PRG4) c.76+210A>G:-,0.71:-,NOT_FOUND 1 186269346 . G . . NT END=186270723;NT GT ./. 1 186270844 . G . . NT END=186273239;NT GT ./. 1 186270894 rs1547084 A G 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.768,G/0.232;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.196+51A>G;VC=Intron;Gene=PRG4/NM_001127709.2/0;CC=c.319+51A>G;VC=Intron;Gene=PRG4/NM_001127710.2/0;CC=c.196+51A>G;VC=Intron;Gene=PRG4/NM_001303232.1/0;CC=c.319+51A>G;VC=Intron;Gene=PRG4/NM_005807.4/1;CC=c.319+51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:6:0:0:13,17:421,541:0.00,53.24:0.00,10.38:0.00,42.86:0.00,1.00:0.00,0.99:0.00,1.00:60,60:13.3,36.0:0,0:0,0:118,90:32,60:20,29:-,NM_005807.3(PRG4) c.319+51A>G:-,0.25:-,0.298708 1 186273390 . G . . NT END=186273925;NT GT ./. 1 186274055 . G . . NT END=186275449;NT GT ./. 1 186276075 rs540749159 T C 50 lc VT=SNV;PN=C;NN=C;SST=Single;DP=458;DB;DBA=NA;PAF=T/0.9968,C/0.003195;NP=110;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1101T>C;ProtCh=p.T367=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.945T>C;ProtCh=p.T315=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.822T>C;ProtCh=p.T274=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1095T>C;ProtCh=p.T365=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.1224T>C;ProtCh=p.T408=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,C,G,T:458:329:0:0:6,57,3,392:89,959,25,11105:0.10,50.50,-1.04,0.00:0.66,42.27,-0.60,0.00:-0.56,8.23,-0.44,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:114.3,90.6,166.0,48.3:0,0,0,0:0,0,0,0:84,85,120,67:60,55,29,59:9,32,17,42:NM_005807.3(PRG4) c.1224T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 186276186 rs529978025 A C 35 sb,lc VT=SNV;PN=C;NN=A;SST=Single;DP=327;DB;DBA=NA;PAF=NA;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1212A>C;ProtCh=p.P404=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.1056A>C;ProtCh=p.P352=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.933A>C;ProtCh=p.P311=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1206A>C;ProtCh=p.P402=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.1335A>C;ProtCh=p.P445=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,C,G,T:327:185:0:0:281,43,1,2:7012,681,14,22:0.00,34.64,-0.28,-0.55:0.00,32.75,-0.14,-0.15:0.00,1.89,-0.14,-0.40:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:63.1,107.0,87.0,138.0:1,0,0,0:0,0,0,0:98,102,53,74:41,36,69,76:33,31,0,46:-,NM_005807.3(PRG4) c.1335A>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 186276189 rs548496024 T C 54 lc VT=SNV;PN=C;NN=A;SST=Single;DP=313;DB;DBA=NA;PAF=NA;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1215T>C;ProtCh=p.T405=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.1059T>C;ProtCh=p.T353=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.936T>C;ProtCh=p.T312=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1209T>C;ProtCh=p.T403=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.1338T>C;ProtCh=p.T446=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:313:172:0:0:6,51,3,253:108,884,35,6292:2.59,53.81,-0.61,0.00:1.08,26.50,-0.41,0.00:1.50,27.31,-0.20,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:135.5,112.4,90.3,59.7:0,0,0,1:0,0,0,0:94,100,39,104:34,40,112,35:21,18,8,35:NM_005807.3(PRG4) c.1338T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 186276216 . T C 35 lc VT=SNV;PN=C;NN=C;SST=Single;DP=310;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1242T>C;ProtCh=p.T414=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.1086T>C;ProtCh=p.T362=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.963T>C;ProtCh=p.T321=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1236T>C;ProtCh=p.T412=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.1365T>C;ProtCh=p.T455=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:A,C,G,T:310:170:0:1:3,38,2,267:35,655,26,7373:-0.71,35.00,-0.44,0.00:-0.16,15.79,-0.29,0.00:-0.55,19.21,-0.15,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:59,60,60,60:168.3,100.1,171.5,67.3:0,1,0,0:0,0,0,0:78,66,90,75:31,61,60,50:15,32,2,47:NM_005807.3(PRG4) c.1365T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 186276585 rs201872234 A C 55 lc VT=SNV;PN=C;NN=A;SST=Single;DP=321;DB;DBA=NA;PAF=NA;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1611A>C;ProtCh=p.P537=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.1455A>C;ProtCh=p.P485=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.1332A>C;ProtCh=p.P444=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1605A>C;ProtCh=p.P535=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.1734A>C;ProtCh=p.P578=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:321:153:0:0:266,52,3:6436,906,35:0.00,54.74,-0.59:0.00,49.30,-0.24:0.00,5.44,-0.35:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,29:58.2,105.3,159.7:0,0,0:0,0,0:80,94,90:50,38,35:38,21,3:-,NM_005807.3(PRG4) c.1734A>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 186276588 . T C 87 lc VT=SNV;PN=C;NN=A;SST=Single;DP=309;NP=9;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1614T>C;ProtCh=p.T538=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.1458T>C;ProtCh=p.T486=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.1335T>C;ProtCh=p.T445=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1608T>C;ProtCh=p.T536=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.1737T>C;ProtCh=p.T579=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,I:309:136:1:0:7,75,4,222,1:89,1236,55,5277,15:0.39,86.85,-0.14,0.00,-0.18:0.36,51.48,-0.37,0.00,-0.03:0.03,35.36,0.23,0.00,-0.15:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:60,60,60,60,60:125.3,92.5,116.0,59.5,34.0:0,0,0,0,0:0,0,0,0,0:39,76,50,89,141:104,60,93,44,8:33,31,21,37,0:NM_005807.3(PRG4) c.1737T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 186276661 rs61831150 A G 314 lc VT=SNV;PN=C;NN=C;SST=Single;DP=288;DB;DBA=NA;PAF=A/0.7706,G/0.2294;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1687A>G;ProtCh=p.T563A;VC=Missense;Gene=PRG4/NM_001127709.2/0;CC=c.1531A>G;ProtCh=p.T511A;VC=Missense;Gene=PRG4/NM_001127710.2/0;CC=c.1408A>G;ProtCh=p.T470A;VC=Missense;Gene=PRG4/NM_001303232.1/0;CC=c.1681A>G;ProtCh=p.T561A;VC=Missense;Gene=PRG4/NM_005807.4/1;CC=c.1810A>G;ProtCh=p.T604A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:288:70:0:0:149,15,118,6:3659,176,3381,85:0.00,4.34,314.46,1.45:0.00,1.96,26.73,1.10:0.00,2.38,287.73,0.35:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:56.6,87.0,84.9,111.3:0,0,0,0:0,0,0,0:84,69,87,69:42,65,45,60:25,15,27,35:-,NM_005807.3(PRG4) c.1810A>G (p.Thr604Ala):-,0.24:-,0.297017 1 186276684 . T C 30 lc VT=SNV;PN=C;NN=A;SST=Single;DP=249;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1710T>C;ProtCh=p.T570=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.1554T>C;ProtCh=p.T518=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.1431T>C;ProtCh=p.T477=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1704T>C;ProtCh=p.T568=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.1833T>C;ProtCh=p.T611=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,C,G,T:249:55:0:0:1,39,1,208:11,574,14,5279:-0.30,30.22,-0.25,0.00:-0.05,14.21,-0.05,0.00:-0.25,16.00,-0.20,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:29.0,91.4,102.0,61.8:0,0,0,0:0,0,0,0:66,78,18,102:85,57,133,32:0,15,0,22:NM_005807.3(PRG4) c.1833T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 186276746 rs148369366 T C 19 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1772T>C;ProtCh=p.L591P;VC=Missense;Gene=PRG4/NM_001127709.2/0;CC=c.1616T>C;ProtCh=p.L539P;VC=Missense;Gene=PRG4/NM_001127710.2/0;CC=c.1493T>C;ProtCh=p.L498P;VC=Missense;Gene=PRG4/NM_001303232.1/0;CC=c.1766T>C;ProtCh=p.L589P;VC=Missense;Gene=PRG4/NM_005807.4/1;CC=c.1895T>C;ProtCh=p.L632P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,G,T:179:23:0:0:29,3,147:391,24,3924:19.45,-0.78,0.00:1.34,-0.06,0.00:18.12,-0.72,0.00:1.00,0.00,0.00:0.95,0.00,0.00:1.00,0.00,0.00:60,60,60:92.8,98.0,57.6:0,0,0:0,0,0:77,51,93:74,100,46:23,41,37:NM_005807.3(PRG4) c.1895T>C (p.Leu632Pro),-:NOT_FOUND,-:0.000462,- 1 186276794 rs202156063 T C 27 lc VT=SNV;PN=C;NN=C;SST=Single;DP=186;DB;DBA=NA;PAF=NA;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1820T>C;ProtCh=p.L607P;VC=Missense;Gene=PRG4/NM_001127709.2/0;CC=c.1664T>C;ProtCh=p.L555P;VC=Missense;Gene=PRG4/NM_001127710.2/0;CC=c.1541T>C;ProtCh=p.L514P;VC=Missense;Gene=PRG4/NM_001303232.1/0;CC=c.1814T>C;ProtCh=p.L605P;VC=Missense;Gene=PRG4/NM_005807.4/1;CC=c.1943T>C;ProtCh=p.L648P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,G,T:186:51:0:0:31,1,154:483,10,4193:27.37,-0.28,0.00:16.89,-0.07,0.00:10.47,-0.21,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:119.3,115.0,50.7:0,0,0:0,0,0:47,60,75:93,77,62:14,0,43:NM_005807.3(PRG4) c.1943T>C (p.Leu648Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 186276855 . T C 31 lc VT=SNV;PN=C;NN=C;SST=Single;DP=219;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.1881T>C;ProtCh=p.T627=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.1725T>C;ProtCh=p.T575=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.1602T>C;ProtCh=p.T534=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.1875T>C;ProtCh=p.T625=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.2004T>C;ProtCh=p.T668=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,C,G,T:219:101:0:0:2,30,3,184:22,532,49,5269:-0.49,30.50,0.45,0.00:-0.20,24.68,0.76,0.00:-0.29,5.82,-0.31,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:109.5,126.9,167.7,35.9:0,0,0,0:0,0,0,0:45,84,25,67:104,62,126,76:14,27,16,38:NM_005807.3(PRG4) c.2004T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 186277088 rs68069719 G C 740 lc VT=SNV;PN=T;NN=T;SST=Single;DP=201;DB;DBA=NA;PAF=NA;NP=3456;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.2114G>C;ProtCh=p.C705S;VC=Missense;Gene=PRG4/NM_001127709.2/0;CC=c.1958G>C;ProtCh=p.C653S;VC=Missense;Gene=PRG4/NM_001127710.2/0;CC=c.1835G>C;ProtCh=p.C612S;VC=Missense;Gene=PRG4/NM_001303232.1/0;CC=c.2108G>C;ProtCh=p.C703S;VC=Missense;Gene=PRG4/NM_005807.4/1;CC=c.2237G>C;ProtCh=p.C746S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:201:148:0:0:199,1,1:6481,10,12:740.44,0.00,0.08:397.84,0.00,-0.00:342.60,0.00,0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:64.3,94.0,245.0:0,0,0:0,0,0:72,51,35:72,99,116:41,0,0:NM_005807.3(PRG4) c.2237G>C (p.Cys746Ser),NM_005807.3(PRG4) c.2237G>C (p.Cys746Ser):1,1:0.999923,0.999923 1 186277277 rs113308576 G A 30 lc VT=SNV;PN=G;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=NA;NP=46;PC=0.001;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.2303G>A;ProtCh=p.G768E;VC=Missense;Gene=PRG4/NM_001127709.2/0;CC=c.2147G>A;ProtCh=p.G716E;VC=Missense;Gene=PRG4/NM_001127710.2/0;CC=c.2024G>A;ProtCh=p.G675E;VC=Missense;Gene=PRG4/NM_001303232.1/0;CC=c.2297G>A;ProtCh=p.G766E;VC=Missense;Gene=PRG4/NM_005807.4/1;CC=c.2426G>A;ProtCh=p.G809E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,C,G,T:173:106:0:0:22,8,139,4:469,80,4039,44:29.90,0.21,0.00,-0.39:5.13,0.72,0.00,-0.39:24.77,-0.51,0.00,-0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:72.4,57.5,16.0,73.0:0,0,0,0:0,0,0,0:55,83,74,73:68,67,61,74:25,21,39,15:NM_005807.3(PRG4) c.2426G>A (p.Gly809Glu),-:NOT_FOUND,-:NOT_FOUND,- 1 186277989 rs3737940 A G 146 lc VT=SNV;PN=C;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.7788,G/0.2212;PC=0.003;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.3015A>G;ProtCh=p.P1005=;VC=Silent;Gene=PRG4/NM_001127709.2/0;CC=c.2859A>G;ProtCh=p.P953=;VC=Silent;Gene=PRG4/NM_001127710.2/0;CC=c.2736A>G;ProtCh=p.P912=;VC=Silent;Gene=PRG4/NM_001303232.1/0;CC=c.3009A>G;ProtCh=p.P1003=;VC=Silent;Gene=PRG4/NM_005807.4/1;CC=c.3138A>G;ProtCh=p.P1046=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:49:0:0:35,47:1159,1478:0.00,145.84:0.00,93.15:0.00,52.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.7,38.9:0,0:0,0:92,83:59,66:39,45:-,NM_005807.3(PRG4) c.3138A>G (p.(=)):-,0.24:-,0.284638 1 186278273 . G . . NT END=186278924;NT GT ./. 1 186279003 . G . . NT END=186280165;NT GT ./. 1 186280303 . G . . NT END=186280571;NT GT ./. 1 186280729 . G . . NT END=186281306;NT GT ./. 1 186281505 . G . . NT END=186281900;NT GT ./. 1 186281696 rs7756 T G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3938,G/0.6062;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=PRG4/NM_001127708.2/0;CC=c.3868+192T>G;VC=Intron;Gene=PRG4/NM_001127709.2/0;CC=c.3712+192T>G;VC=Intron;Gene=PRG4/NM_001127710.2/0;CC=c.3589+192T>G;VC=Intron;Gene=PRG4/NM_001303232.1/0;CC=c.3862+192T>G;VC=Intron;Gene=PRG4/NM_005807.4/1;CC=c.3991+192T>G;VC=Intron;Gene=TPR/NM_003292.2/1;CC=c.*1407A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:G,T:5:3:0:0:3,2:101,58:10.07,0.00:6.71,0.00:3.36,0.00:0.78,0.00:0.94,0.00:0.87,0.00:60,60:33.7,0.0:0,0:0,0:28,48:120,102:4,46:NM_003292.2(TPR) c.*1407A>C,-:0.62,-:NOT_FOUND,- 1 186282027 . G . . NT END=186282812;NT GT ./. 1 186282911 . A . . NT END=186283102;NT GT ./. 1 186283159 . C . . NT END=186283760;NT GT ./. 1 186283857 . C . . NT END=186286613;NT GT ./. 1 186286733 . C . . NT END=186287578;NT GT ./. 1 186287287 rs6657726 T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4004,C/0.5996;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.6821+292A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:4:4:0:0:2,2:68,63:6.55,0.00:6.55,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:34.0,4.0:0,0:0,0:22,8:126,142:1,6:NM_003292.2(TPR) c.6821+292A>G,-:0.62,-:NOT_FOUND,- 1 186287459 rs112634226 C CA 7 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=3;PC=0.046;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.6821+119_6821+120insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,C,CA,D:31:29:3:1:1,26,3,1:11,856,97,33:-0.05,0.00,6.94,1.92:-0.35,0.00,6.99,1.93:0.30,0.00,-0.04,-0.01:0.00,0.00,0.42,0.00:0.00,0.00,0.87,0.00:0.00,0.00,0.32,0.00:60,60,60,60:11.0,11.0,39.3,0.0:0,0,0,0:0,0,0,0:4,35,39,67:144,115,98,81:0,27,13,0:-,NM_003292.2(TPR) c.6821+119_6821+120insT:-,NOT_FOUND:-,NOT_FOUND 1 186287736 . C . . NT END=186287864;NT GT ./. 1 186287961 . C . . NT END=186289443;NT GT ./. 1 186289551 . C . . NT END=186291449;NT GT ./. 1 186291339 rs6425026 T C 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.4006,C/0.5994;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.6461+111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:10,11:303,363:28.73,0.00:28.73,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.0,4.1:0,0:0,0:48,60:102,91:19,25:NM_003292.2(TPR) c.6461+111A>G,-:0.62,-:NOT_FOUND,- 1 186291545 . C . . NT END=186291649;NT GT ./. 1 186291719 . C . . NT END=186292817;NT GT ./. 1 186293003 . C . . NT END=186294895;NT GT ./. 1 186294987 . C . . NT END=186295235;NT GT ./. 1 186295368 . C . . NT END=186296591;NT GT ./. 1 186296793 . C . . NT END=186300629;NT GT ./. 1 186296926 rs11582844 T C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7813,C/0.2187;PC=0.022;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.5689-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:C,T:13:0:0:0:4,9:139,283:12.32,0.00:0.00,0.00:12.32,0.00:0.79,0.00:0.00,0.00:0.79,0.00:60,60:34.8,9.8:0,0:0,0:114,94:37,57:24,49:NM_003292.2(TPR) c.5689-134A>G,-:0.25,-:NOT_FOUND,- 1 186300535 . T TA 8 rn VT=INS;SST=Single;DP=11;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.5688+94dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:T,TA:11:11:3:0:8,3:269,97:0.00,8.33:0.00,8.33:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:37.5,8.7:0,0:0,0:15,63:136,88:10,30:-,NM_003292.2(TPR) c.5688+94_5688+95insT:-,NOT_FOUND:-,NOT_FOUND 1 186300714 . C . . NT END=186301326;NT GT ./. 1 186300984 rs2037830 C A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3984,A/0.6016;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.5605-271G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:131:15.01:7.75:7.25:1.00:1.00:1.00:60:32.8:0:0:78:72:55:NM_003292.2(TPR) c.5605-271G>T,NM_003292.2(TPR) c.5605-271G>T:0.62,0.62:NOT_FOUND,NOT_FOUND 1 186301476 . C . . NT END=186302253;NT GT ./. 1 186302527 . C . . NT END=186303456;NT GT ./. 1 186303666 . C . . NT END=186304199;NT GT ./. 1 186304262 . C . . NT END=186304469;NT GT ./. 1 186304676 . C . . NT END=186305627;NT GT ./. 1 186305827 . C . . NT END=186306144;NT GT ./. 1 186305914 rs12085497 A C 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.7788,C/0.2212;PC=0.001;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.4507-88T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:39:11:0:0:22,16,1:673,531,10:0.00,49.51,-0.03:0.00,9.10,-0.07:0.00,40.40,0.04:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:4.5,34.6,97.0:0,0,0:0,0,0:124,117,52:25,32,63:16,26,0:-,NM_003292.2(TPR) c.4507-88T>G:-,0.24:-,NOT_FOUND 1 186306289 . C . . NT END=186307164;NT GT ./. 1 186307376 . C . . NT END=186308773;NT GT ./. 1 186308526 rs79818598 T TCTA 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.02216,TACT/.,TCTA/0.9778;NP=117;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.4151+247_4151+248insTAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T,TCTA:5:5:4:0:1,4:8,130:0.00,13.92:0.00,13.92:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:24.0,21.2:1,0:0,0:53,71:93,79:0,38:NM_003292.2(TPR) c.4151+247_4151+248insTAG,NM_003292.2(TPR) c.4151+247_4151+248insTAG:0.98,0.98:NOT_FOUND,NOT_FOUND 1 186308616 rs17580052 C A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7742,A/0.2258;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.4151+158G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,C:13:13:0:0:5,8:164,263:15.02,0.00:15.02,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:32.8,3.0:0,0:0,0:32,28:119,122:28,24:NM_003292.2(TPR) c.4151+158G>T,-:0.25,-:NOT_FOUND,- 1 186308905 . C . . NT END=186310159;NT GT ./. 1 186310292 . C . . NT END=186310383;NT GT ./. 1 186310522 . C . . NT END=186312457;NT GT ./. 1 186312606 . C . . NT END=186313037;NT GT ./. 1 186312913 rs3753567 T C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7642,C/0.2358;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.3602+125A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:14:0:0:10,7:314,229:31.15,0.00:24.14,0.00:7.01,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:34.7,0.0:0,0:0,0:30,53:121,98:29,37:NM_003292.2(TPR) c.3602+125A>G,-:0.26,-:NOT_FOUND,- 1 186313223 . C . . NT END=186313506;NT GT ./. 1 186313249 rs2950829 A G 259 nt VT=SNV;PN=A;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.02875,G/0.9712;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.3418-27T>C;VC=Intron;DM=TPR/TPR_MLP1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:34:0:0:66:2274:258.81:84.76:174.05:1.00:1.00:1.00:60:44.9:0:0:93:48:24:NM_003292.2(TPR) c.3418-27T>C,NM_003292.2(TPR) c.3418-27T>C:0.97,0.97:0.978301,0.978301 1 186313711 . C . . NT END=186314711;NT GT ./. 1 186314829 . C . . NT END=186315266;NT GT ./. 1 186315420 . C . . NT END=186316423;NT GT ./. 1 186316591 . C . . NT END=186319354;NT GT ./. 1 186316656 rs3753564 G C 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.769,C/0.231;PC=0.001;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.2777-66C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:40:14:0:0:20,20:694,633:66.91,0.00:13.35,0.00:53.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,7.8:0,0:0,0:113,91:31,59:18,21:NM_003292.2(TPR) c.2777-66C>G,-:0.25,-:NOT_FOUND,- 1 186319521 . C . . NT END=186320461;NT GT ./. 1 186320603 . C . . NT END=186321107;NT GT ./. 1 186321242 rs61744267 C T 74 nt VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.9129,T/0.08706;PC=1.000;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.2335G>A;ProtCh=p.V779I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:32:0:0:39,26:1181,806:0.00,74.00:0.00,23.83:0.00,50.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,40.1:0,0:0,0:68,84:76,57:30,33:-,NM_003292.2(TPR) c.2335G>A (p.Val779Ile):-,0.11:-,0.141203 1 186321243 . C . . NT END=186322819;NT GT ./. 1 186322983 . C . . NT END=186324541;NT GT ./. 1 186323067 rs72711793 A T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.9884,T/0.01158;PC=0.005;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.2172-85T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:3:0:0:10,10:291,319:0.00,30.67:0.00,1.44:0.00,29.24:0.00,1.00:0.00,0.89:0.00,1.00:60,60:5.1,40.1:0,0:0,0:87,118:63,32:31,22:-,NM_003292.2(TPR) c.2172-85T>A:-,0.02:-,NOT_FOUND 1 186324691 . C . . NT END=186324766;NT GT ./. 1 186324901 . C . . NT END=186325417;NT GT ./. 1 186325582 . C . . NT END=186326528;NT GT ./. 1 186326756 . C . . NT END=186327674;NT GT ./. 1 186327536 rs2383476 G A 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4313,A/0.5687;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.1497+139C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:9:9:0:0:3,6:83,204:7.24,0.00:7.24,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:60,60:81.0,10.0:0,0:0,0:9,68:142,79:9,35:NM_003292.2(TPR) c.1497+139C>T,-:0.59,-:NOT_FOUND,- 1 186327783 . C . . NT END=186328930;NT GT ./. 1 186329129 . C . . NT END=186329404;NT GT ./. 1 186329235 rs12093440 G C 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7686,C/0.2314;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.1192-107C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:29:9:0:0:1,14,14:11,440,479:0.12,42.21,0.00:-0.09,7.66,0.00:0.21,34.55,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:141.0,61.0,1.0:0,0,0:0,0,0:15,95,82:136,56,68:0,38,32:NM_003292.2(TPR) c.1192-107C>G,-:0.25,-:NOT_FOUND,- 1 186329257 rs878041 C A 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4315,A/0.5685;PC=0.002;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.1192-129G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:11:0:0:10,16:282,525:25.39,0.00:12.27,0.00:13.12,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:77.1,6.4:0,0:0,0:95,81:55,68:22,37:NM_003292.2(TPR) c.1192-129G>T,-:0.59,-:NOT_FOUND,- 1 186329497 . C . . NT END=186329896;NT GT ./. 1 186329869 rs2026187 C G 84 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.4313,G/0.5687;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.1099+28G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:53:47:0:0:27,26:899,874:0.00,83.84:0.00,49.94:0.00,33.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,38.0:0,0:0,0:68,66:82,84:37,31:-,NM_003292.2(TPR) c.1099+28G>C:-,0.59:-,0.600118 1 186330038 . C . . NT END=186330753;NT GT ./. 1 186330315 rs2026189 C G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.623,G/0.377;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.959-278G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,G:8:0:0:0:5,3:173,96:0.00,8.73:0.00,0.00:0.00,8.73:0.00,0.67:0.00,0.00:0.00,0.67:60,60:0.0,60.0:0,0:0,0:136,94:15,57:2,9:-,NM_003292.2(TPR) c.959-278G>C:-,0.41:-,NOT_FOUND 1 186330643 rs10494586 T C 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4387,C/0.5613;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.958+111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:12,11:364,378:35.20,0.00:35.20,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.7,4.6:0,0:0,0:52,74:99,76:39,33:NM_003292.2(TPR) c.958+111A>G,-:0.58,-:NOT_FOUND,- 1 186330695 rs562410185 TA T 13 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=54;PC=0.108;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=TPR/NM_003292.2/1;CC=c.958+58delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:TA,I,T:31:35:4:9:22,4,5:651,131,288:0.00,10.08,12.69:0.00,10.19,14.29:0.00,-0.11,-1.60:0.00,0.00,0.78:0.00,0.00,0.78:0.00,0.00,0.53:60,60,60:23.7,0.0,19.6:0,0,4:0,0,0:57,22,17:94,128,134:41,8,6:-,NM_003292.2(TPR) c.958+58delT:-,NOT_FOUND:-,NOT_FOUND 1 186330842 . C . . NT END=186330920;NT GT ./. 1 186331002 . C . . NT END=186331419;NT GT ./. 1 186331513 . C . . NT END=186331968;NT GT ./. 1 186332134 . C . . NT END=186332473;NT GT ./. 1 186332578 . C . . NT END=186337017;NT GT ./. 1 186337115 . C . . NT END=186340101;NT GT ./. 1 186340176 . C . . NT END=186342490;NT GT ./. 1 186342596 . C . . NT END=186344009;NT GT ./. 1 186344458 . A . . NT END=186344690;NT GT ./. 1 186344761 . C . . NT END=186348917;NT GT ./. 1 186349017 . G . . NT END=186352153;NT GT ./. 1 186352289 . G . . NT END=186355119;NT GT ./. 1 186352347 rs4651309 A T 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.7682,T/0.2318;PC=0.001;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=C1orf27/NM_001164245.1/0;CC=c.234+59A>T;VC=Intron;Gene=C1orf27/NM_001164246.1/0;CC=c.234+59A>T;VC=Intron;Gene=C1orf27/NM_017847.5/1;CC=c.234+59A>T;VC=Intron;DM=C1orf27/ODR4-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:33:9:0:0:16,17:557,516:0.00,49.74:0.00,12.24:0.00,37.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,44.6:0,0:0,0:95,79:50,72:34,38:-,NM_017847.5(C1orf27) c.234+59A>T:-,0.25:-,NOT_FOUND 1 186355216 . G . . NT END=186357573;NT GT ./. 1 186357294 rs1285178 T G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.02256,G/0.9774;PC=0.001;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=C1orf27/NM_001164245.1/0;CC=c.331-280T>G;VC=Intron;Gene=C1orf27/NM_001164246.1/0;CC=c.235-280T>G;VC=Intron;Gene=C1orf27/NM_017847.5/1;CC=c.331-280T>G;VC=Intron;DM=C1orf27/ODR4-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:54.0:0:0:20:127:8:NM_017847.5(C1orf27) c.331-280T>G,NM_017847.5(C1orf27) c.331-280T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 186357523 rs1290390 T C 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.02256,C/0.9774;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=C1orf27/NM_001164245.1/0;CC=c.331-51T>C;VC=Intron;Gene=C1orf27/NM_001164246.1/0;CC=c.235-51T>C;VC=Intron;Gene=C1orf27/NM_017847.5/1;CC=c.331-51T>C;VC=Intron;DM=C1orf27/ODR4-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:14:0:0:19:590:68.01:47.11:20.90:1.00:1.00:1.00:60:43.9:0:0:16:135:11:NM_017847.5(C1orf27) c.331-51T>C,NM_017847.5(C1orf27) c.331-51T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 186357681 . G . . NT END=186358719;NT GT ./. 1 186358757 . G . . NT END=186359842;NT GT ./. 1 186359984 . G . . NT END=186360827;NT GT ./. 1 186360924 . G . . NT END=186363078;NT GT ./. 1 186363119 rs12084264 C G 35 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7676,G/0.2324;PC=0.008;Gene=MIR548F1/NR_031642.1/0;VC=NonCoding;Gene=C1orf27/NM_001164245.1/0;CC=c.711+2196C>G;VC=Intron;Gene=C1orf27/NM_001164246.1/0;CC=c.656C>G;ProtCh=p.S219C;VC=Missense;Gene=C1orf27/NM_017847.5/1;CC=c.752C>G;ProtCh=p.S251C;VC=Missense;DM=C1orf27/ODR4-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:27:21:0:0:15,11,1:509,379,11:0.00,35.45,0.11:0.00,15.72,0.22:0.00,19.73,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:1.5,39.3,11.0:0,0,0:0,0,0:84,93,150:57,49,1:31,20,0:-,NM_017847.5(C1orf27) c.752C>G (p.Ser251Cys):-,0.26:-,0.273294 1 186363148 . G . . NT END=186367444;NT GT ./. 1 186367574 . G . . NT END=186368085;NT GT ./. 1 186368177 . T . . NT END=186370177;NT GT ./. 1 186370313 . A . . NT END=186375214;NT GT ./. 1 186375401 . G . . NT END=186380942;NT GT ./. 1 186381026 . G . . NT END=186386675;NT GT ./. 1 186386787 . G . . NT END=186388140;NT GT ./. 1 186388209 . G . . NT END=186413110;NT GT ./. 1 186413639 . C . . NT END=186415557;NT GT ./. 1 186415710 . C . . NT END=186417759;NT GT ./. 1 186417857 . T . . NT END=186418530;NT GT ./. 1 186418592 . T . . NT END=186643484;NT GT ./. 1 186643895 . C . . NT END=186644380;NT GT ./. 1 186644529 . C . . NT END=186645029;NT GT ./. 1 186645317 . C . . NT END=186645598;NT GT ./. 1 186645846 . C . . NT END=186645964;NT GT ./. 1 186646049 . C . . NT END=186646780;NT GT ./. 1 186646963 . C . . NT END=186647392;NT GT ./. 1 186647537 . C . . NT END=186648189;NT GT ./. 1 186648334 . C . . NT END=186648453;NT GT ./. 1 186648571 . C . . NT END=186649370;NT GT ./. 1 186649221 rs2745557 A G 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.146,G/0.854;Gene=PTGS2/NM_000963.3/1;CC=c.52+150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:33:0:0:18,15:601,431:0.00,40.32:0.00,40.45:0.00,-0.13:0.00,1.00:0.00,1.00:0.00,0.64:60,60:6.6,40.9:0,0:0,0:40,42:110,109:26,33:-,NM_000963.2(PTGS2) c.52+150T>C:-,0.86:-,NOT_FOUND 1 186649423 . C . . NT END=186823486;NT GT ./. 1 186823520 . G . . NT END=186839566;NT GT ./. 1 186839649 . G . . NT END=186839850;NT GT ./. 1 186839877 . G . . NT END=186862142;NT GT ./. 1 186862292 . G . . NT END=186863229;NT GT ./. 1 186862419 rs7519192 A G 77 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7288,G/0.2712;Gene=PLA2G4A/NM_001311193.1/0;CC=c.264+128A>G;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.264+128A>G;VC=Intron;DM=PLA2G4A/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C,G:21:1:0:0:1,20:9,682:0.29,77.31:0.00,1.93:0.29,75.38:0.00,1.00:0.00,0.97:0.00,1.00:60,60:108.0,39.0:0,0:0,0:58,104:91,46:0,37:NM_024420.2(PLA2G4A) c.264+128A>G,NM_024420.2(PLA2G4A) c.264+128A>G:0.23,0.23:NOT_FOUND,NOT_FOUND 1 186863344 . G . . NT END=186876096;NT GT ./. 1 186863385 rs570962696 TAA T 23 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TAA/0.5519,T/0.4481;DB;DBA=NA;PAF=TAA/0.5519,T/0.4481;NP=1766;PC=0.001;Gene=PLA2G4A/NM_001311193.1/0;CC=c.378+44_378+45delAA;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.378+44_378+45delAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:TAA,T:9:1:0:7:2,7:61,214:0.00,22.66:0.00,1.88:0.00,20.78:0.00,1.00:0.00,0.85:0.00,1.00:60,60:0.0,15.0:0,0:0,0:149,129:1,22:1,10:-,NM_024420.2(PLA2G4A) c.378+43_378+44delAA:-,0.4:-,0.398929 1 186876135 . G . . NT END=186880379;NT GT ./. 1 186880522 . G . . NT END=186901894;NT GT ./. 1 186902032 . G . . NT END=186908139;NT GT ./. 1 186908363 . G . . NT END=186909111;NT GT ./. 1 186909227 . G . . NT END=186915768;NT GT ./. 1 186915464 rs10911964 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.01837,A/0.9816;Gene=PLA2G4A/NM_001311193.1/0;CC=c.854-305G>A;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1034-305G>A;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:139:16.67:16.67:0.00:1.00:1.00:0.00:60:48.7:0:0:51:100:35:NM_024420.2(PLA2G4A) c.1034-305G>A,NM_024420.2(PLA2G4A) c.1034-305G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 186915585 rs398103456 G GT 29 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=912;Gene=PLA2G4A/NM_001311193.1/0;CC=c.854-179dupT;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1034-179dupT;VC=Intron;DM=PLA2G4A/PLA2_B;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,GT:11:11:9:0:2,9:40,268:0.00,28.81:0.00,28.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.0,52.7:0,0:0,0:147,39:4,112:2,36:-,NM_024420.2(PLA2G4A) c.1034-184_1034-183insT:-,NOT_FOUND:-,NOT_FOUND 1 186915663 rs10911965 C A 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.01837,A/0.9816;Gene=PLA2G4A/NM_001311193.1/0;CC=c.854-106C>A;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1034-106C>A;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:15:0:0:18:590:67.58:55.85:11.73:1.00:1.00:1.00:60:80.3:0:0:59:91:23:NM_024420.2(PLA2G4A) c.1034-106C>A,NM_024420.2(PLA2G4A) c.1034-106C>A:0.89,0.89:NOT_FOUND,NOT_FOUND 1 186915664 rs10911966 A G 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.01837,G/0.9816;Gene=PLA2G4A/NM_001311193.1/0;CC=c.854-105A>G;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1034-105A>G;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G,T:18:15:0:0:17,1:559,18:63.55,1.06:52.29,1.06:11.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.8,140.0:0,0:0,0:58,80:92,68:24,0:NM_024420.2(PLA2G4A) c.1034-105A>G,NM_024420.2(PLA2G4A) c.1034-105A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 186915907 . G . . NT END=186916000;NT GT ./. 1 186916094 . G . . NT END=186919788;NT GT ./. 1 186919732 rs4650709 A T 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.01837,T/0.9816;PC=0.260;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1085-57A>T;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1265-57A>T;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:16:0:0:17:565:64.61:58.79:5.82:1.00:1.00:1.00:60:42.4:0:0:30:110:15:NM_024420.2(PLA2G4A) c.1265-57A>T,NM_024420.2(PLA2G4A) c.1265-57A>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 186919861 . G . . NT END=186925233;NT GT ./. 1 186919993 rs969357 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.01837,A/0.9816;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1156+133G>A;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1336+133G>A;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:254:29.21:0.00:29.21:1.00:0.00:1.00:60:52.9:0:0:88:61:25:NM_024420.2(PLA2G4A) c.1336+133G>A,NM_024420.2(PLA2G4A) c.1336+133G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 186924969 rs12136279 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01837,A/0.9816;PC=0.001;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1157-265G>A;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1337-265G>A;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:93.0:0:0:22:106:3:NM_024420.2(PLA2G4A) c.1337-265G>A,NM_024420.2(PLA2G4A) c.1337-265G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 186925024 rs5007828 A C,T 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01837,C/0.9816;PC=0.002;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:C,T:5:5:0:0:4,1:128,10:14.32,0.79:14.32,0.79:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,56:94.0,126.0:0,0:0,0:73,77:72,31:30,0:NM_024420.2(PLA2G4A) c.1337-210A>C,NM_024420.2(PLA2G4A) c.1337-210A>T:0.95,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 186925032 rs66510077 A ATT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1959,AT/0.8041,ATT/.,ATTT/.;DB;DBA=NA;PAF=A/0.1959,AT/0.8041;DB;DBA=NA;PAF=A/0.1959,AT/0.8041;NP=1;NP=29;PC=0.002;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1157-189_1157-188insTT;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1337-189_1337-188insTT;VC=Intron;DM=PLA2G4A/PLA2_B;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,ATT:5:5:3:0:2,3:37,99:0.00,9.88:0.00,9.88:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,51:92.0,106.0:0,0:0,0:111,78:18,64:26,7:-,NM_024420.2(PLA2G4A) c.1337-202_1337-201insTT:-,NOT_FOUND:-,NOT_FOUND 1 186925065 rs5007827 T G 28 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.01837,G/0.9816;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1157-169T>G;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1337-169T>G;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:238:27.99:26.25:1.74:1.00:1.00:1.00:60:127.3:0:0:37:106:25:NM_024420.2(PLA2G4A) c.1337-169T>G,NM_024420.2(PLA2G4A) c.1337-169T>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 186925094 rs5007826 A G 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.01817,G/0.9818;PC=0.007;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1157-140A>G;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1337-140A>G;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:14:13:0:0:14:345:40.71:34.84:5.87:1.00:1.00:1.00:60:135.3:0:0:37:110:17:NM_024420.2(PLA2G4A) c.1337-140A>G,NM_024420.2(PLA2G4A) c.1337-140A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 186925114 rs12720650 C T 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7354,T/0.2646;PC=0.001;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1157-120C>T;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1337-120C>T;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:20:0:0:22:710:81.46:69.82:11.63:1.00:1.00:1.00:60:127.0:0:0:38:104:27:NM_024420.2(PLA2G4A) c.1337-120C>T,NM_024420.2(PLA2G4A) c.1337-120C>T:0.23,0.23:NOT_FOUND,NOT_FOUND 1 186925168 rs5007825 A G 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.01837,G/0.9816;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1157-66A>G;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1337-66A>G;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:G:31:29:0:0:31:880:102.50:83.76:18.73:1.00:1.00:1.00:60:107.4:0:0:58:88:30:NM_024420.2(PLA2G4A) c.1337-66A>G,NM_024420.2(PLA2G4A) c.1337-66A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 186925194 rs5007824 T C 165 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.01837,C/0.9816;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1157-40T>C;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1337-40T>C;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:39:0:0:43:1444:164.88:134.96:29.93:1.00:1.00:1.00:60:81.6:0:0:55:94:34:NM_024420.2(PLA2G4A) c.1337-40T>C,NM_024420.2(PLA2G4A) c.1337-40T>C:0.97,0.97:0.957712,0.957712 1 186925477 . G . . NT END=186934540;NT GT ./. 1 186925552 rs2307199 T C 117 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.01837,C/0.9816;PC=0.092;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1399+76T>C;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1579+76T>C;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:10:0:0:31:1020:116.71:21.43:95.28:1.00:1.00:1.00:60:55.7:0:0:102:49:23:NM_024420.2(PLA2G4A) c.1579+76T>C,NM_024420.2(PLA2G4A) c.1579+76T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 186925636 rs7547623 T G 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.02676,G/0.9732;PC=0.001;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1399+160T>G;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1579+160T>G;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:375:42.75:0.00:42.75:1.00:0.00:1.00:60:58.8:0:0:84:66:37:NM_024420.2(PLA2G4A) c.1579+160T>G,NM_024420.2(PLA2G4A) c.1579+160T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 186934187 rs12144159 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.724,C/0.276;PC=0.002;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1400-354T>C;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1580-354T>C;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:33.2:0:0:18:132:12:NM_024420.2(PLA2G4A) c.1580-354T>C,NM_024420.2(PLA2G4A) c.1580-354T>C:0.24,0.24:NOT_FOUND,NOT_FOUND 1 186934726 . G . . NT END=186946724;NT GT ./. 1 186934871 rs6695108 G A 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.02117,A/0.9788;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1584+146G>A;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1764+146G>A;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:205:23.80:0.00:23.80:1.00:0.00:1.00:60:58.4:0:0:101:48:20:NM_024420.2(PLA2G4A) c.1764+146G>A,NM_024420.2(PLA2G4A) c.1764+146G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 186937532 rs79249459 A ATGTGTGTG 21 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.007;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1584+2840_1584+2841insGTGTGTGT;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1764+2840_1764+2841insGTGTGTGT;VC=Intron;DM=PLA2G4A/PLA2_B;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:ATGTGTGTG:6:4:6:0:6:184:21.26:8.29:12.97:1.00:1.00:1.00:70:6.8:0:0:99:40:10:NM_024420.2(PLA2G4A) c.1764+2807_1764+2808insTGTGTGTG,NM_024420.2(PLA2G4A) c.1764+2807_1764+2808insTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 186946638 rs2891262 C T 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8165,T/0.1835;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1585-87C>T;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1765-87C>T;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,G,T:18:18:0:0:5,1,12:147,11,371:0.00,0.34,38.35:0.00,0.35,38.59:0.00,-0.01,-0.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.78:60,60,60:10.8,72.0,75.5:0,0,0:0,0,0:34,24,53:116,127,97:15,0,22:-,NM_024420.2(PLA2G4A) c.1765-87C>T:-,0.16:-,NOT_FOUND 1 186946641 rs2891263 C G 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.8165,A/.,G/0.1835;PC=0.001;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1585-84C>G;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.1765-84C>G;VC=Intron;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,G:19:19:0:0:6,13:182,359:0.00,36.82:0.00,37.07:0.00,-0.25:0.00,1.00:0.00,1.00:0.00,0.79:60,60:9.0,75.2:0,0:0,0:41,51:108,98:29,24:-,NM_024420.2(PLA2G4A) c.1765-84C>G:-,0.16:-,NOT_FOUND 1 186946912 rs2307198 G A 141 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.01178,A/0.9882;PC=1.000;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1772G>A;ProtCh=p.R591K;VC=Missense;Gene=PLA2G4A/NM_024420.2/1;CC=c.1952G>A;ProtCh=p.R651K;VC=Missense;DM=PLA2G4A/PLA2_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:12:0:0:37:1232:140.81:29.31:111.50:1.00:1.00:1.00:60:43.2:0:0:83:59:36:NM_024420.2(PLA2G4A) c.=,NM_024420.2(PLA2G4A) c.=:0.98,0.98:0.985622,0.985622 1 186946921 . G . . NT END=186948446;NT GT ./. 1 186948605 . G . . NT END=186957508;NT GT ./. 1 186957215 rs1555204 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2786,T/0.7214;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1939-294C>T;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.2119-294C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:6:6:0:0:2,4:64,106:0.00,10.79:0.00,10.79:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:33.5,59.2:0,0:0,0:30,38:121,113:8,2:-,NM_024420.2(PLA2G4A) c.2119-294C>T:-,0.72:-,NOT_FOUND 1 186957220 rs1555205 T C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.01757,C/0.9824;PC=0.001;Gene=PLA2G4A/NM_001311193.1/0;CC=c.1939-289T>C;VC=Intron;Gene=PLA2G4A/NM_024420.2/1;CC=c.2119-289T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:178:20.62:20.62:0.00:1.00:1.00:0.00:60:50.7:0:0:43:108:2:NM_024420.2(PLA2G4A) c.2119-289T>C,NM_024420.2(PLA2G4A) c.2119-289T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 186957641 . T . . NT END=189235306;NT GT ./. 1 186965491 rs4617359 A C,ACACC 10 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6807,C/0.3193;NP=1;NP=2;NP=39;NP=76 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:60:C,ACACC:5:4:4:0:2,3:62,122:6.20,10.23:1.65,4.76:4.55,5.46:0.00,0.73:0.00,0.51:0.00,0.73:60,60:31.0,11.7:0,1:0,0:84,104:67,45:55,14:chr1 g.186965490A>C (intergenic),chr1 g.186965491_186965492insCACC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 187310742 rs397837626 TAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=38;PC=0.101;Gene=LINC01036/NR_126347.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:TAC,T:4:3:0:2:2,2:60,67:0.00,6.45:0.00,3.23:0.00,3.23:0.00,0.51:0.00,0.89:0.00,0.89:60,60:11.5,0.0:0,0:0,0:31,63:118,58:7,19:-,chr1 g.187310743_187310744delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187394379 rs143068058 C CGT 17 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4125,CGT/0.5875,CGTGT/.;DB;DBA=NA;PAF=C/0.4125,CAT/.,CGT/0.5875,CGTGT/.;NP=1;NP=138;NP=19;NP=32;NP=8;PC=0.002;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,CGT:6:6:5:0:1,5:35,162:0.00,17.41:0.00,14.05:0.00,3.36:0.00,0.99:0.00,0.99:0.00,1.00:60,70:0.0,16.6:0,0:0,0:130,29:21,86:0,21:-,chr1 g.187394379_187394380insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187532391 rs1538477 A G 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=3050;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:8:0:0:10:303:35.06:28.01:7.05:1.00:1.00:1.00:60:41.5:0:0:31:119:16:chr1 g.187532390A>G (intergenic),chr1 g.187532390A>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 187532444 rs147554046 T TGTGGGCTC 40 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=3;PC=0.828;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:T,TGTGGGCTC:12:10:11:0:1,11:34,361:0.00,39.85:0.00,23.02:0.00,16.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.0,24.3:1,0:0,0:79,42:64,101:0,12:-,chr1 g.187532444_187532445insGTGGGCTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187584870 rs12402662 C T 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.266 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:18:0:0:10,9:356,289:0.00,27.48:0.00,24.20:0.00,3.28:0.00,1.00:0.00,1.00:0.00,0.92:60,60:79.4,224.6:0,0:0,0:44,17:86,128:19,6:-,chr1 g.187584869C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187584871 rs12410153 A G 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.260 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:18:0:0:10,10:310,334:0.00,32.15:0.00,24.66:0.00,7.49:0.00,1.00:0.00,1.00:0.00,0.73:60,60:80.6,207.7:0,0:0,0:40,16:87,130:13,8:-,chr1 g.187584870A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187584880 rs377508768 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.197 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:18:0:0:9,11:296,366:0.00,35.87:0.00,28.20:0.00,7.67:0.00,1.00:0.00,1.00:0.00,0.99:60,60:88.2,212.3:0,0:0,0:57,24:75,124:22,8:-,chr1 g.187584879C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187584885 . G A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;PC=0.153 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:17:0:0:11,8:317,213:31.32,0.00:24.35,0.00:6.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:212.3,72.0:0,0:0,0:29,59:119,71:8,13:chr1 g.187584884G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 187584889 . T C 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;PC=0.113 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:17:0:0:12,7:322,221:32.40,0.00:25.95,0.00:6.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:190.8,71.0:0,0:0,0:34,66:112,69:10,21:chr1 g.187584888T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 187584890 . G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;PC=0.115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:24:21:0:0:4,20:133,587:10.52,0.00:9.56,0.00:0.96,0.00:0.68,0.00:0.94,0.00:0.85,0.00:60,60:218.5,136.1:0,0:0,0:39,43:106,86:4,16:chr1 g.187584889G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 187584898 rs12409213 T A 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.119 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,T:25:21:0:0:18,7:537,213:55.78,0.00:34.97,0.00:20.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:130.4,82.3:0,0:0,0:28,69:106,60:14,11:chr1 g.187584897T>A (intergenic),-:0.22,-:NOT_FOUND,- 1 187584907 rs12402941 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.097 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,T:26:21:0:0:21,5:652,149:0.00,11.78:0.00,7.80:0.00,3.98:0.00,0.82:0.00,0.97:0.00,0.93:60,59:126.9,98.4:0,0:0,0:36,75:101,51:14,9:-,chr1 g.187584906C>T (intergenic):-,0.45:-,NOT_FOUND 1 187584917 rs12402942 C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,T:30:24:0:0:26,4:758,114:0.00,8.23:0.00,4.49:0.00,3.73:0.00,0.64:0.00,0.92:0.00,0.87:60,59:113.1,103.2:0,0:0,0:49,79:90,41:16,8:-,chr1 g.187584916C>T (intergenic):-,0.3:-,NOT_FOUND 1 187584922 rs12748082 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:30:24:0:0:5,25:129,719:9.46,0.00:4.38,0.00:5.08,0.00:0.80,0.00:0.68,0.00:0.94,0.00:60,60:90.4,104.3:0,0:0,0:78,50:36,91:12,18:chr1 g.187584921G>A (intergenic),-:0.24,-:NOT_FOUND,- 1 187584931 rs370641789 GGGA G 22 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=GGGA/0.6953,G/0.3047;NP=2;PC=0.038;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGA,G:36:30:0:9:27,9:773,260:0.00,21.52:0.00,10.97:0.00,10.55:0.00,0.99:0.00,1.00:0.00,1.00:60,60:106.7,99.8:1,0:0,0:60,96:82,27:18,9:-,chr1 g.187584932_187584934delGGA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187585289 rs12407941 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4764,A/0.5236;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:27:0:0:12,17:364,498:33.60,0.00:27.14,0.00:6.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.2,75.6:0,0:0,0:36,46:106,98:10,35:chr1 g.187585288G>A (intergenic),-:0.53,-:NOT_FOUND,- 1 187585303 rs6671453 A G 102 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.04113,G/0.9589;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:A,G:32:29:0:0:2,30:52,910:0.00,102.05:0.00,68.22:0.00,33.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:161.5,97.0:0,0:0,0:36,38:89,107:19,20:chr1 g.187585302A>G (intergenic),chr1 g.187585302A>G (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 1 187585378 rs12402989 C T 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.4772,T/0.5228;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:46:37:0:0:24,1,21:719,12,626:0.00,0.06,59.10:0.00,0.18,35.92:0.00,-0.12,23.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:83.8,82.0,94.9:0,0,1:0,0,0:95,43,64:52,108,61:32,0,33:-,chr1 g.187585377C>T (intergenic):-,0.54:-,NOT_FOUND 1 187585415 rs6662669 T C 152 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.03694,C/0.9631;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C,T:49:33:0:0:48,1:1315,33:151.58,0.00:72.56,0.00:79.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,30:82.6,76.0:0,0:0,0:96,92:45,2:33,0:chr1 g.187585414T>C (intergenic),chr1 g.187585414T>C (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 1 187585680 rs12040465 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4768,A/0.5232;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,C,G:11:10:0:0:5,1,5:171,14,126:16.51,0.67,0.00:11.19,0.70,0.00:5.32,-0.02,0.00:0.93,0.00,0.00:0.99,0.00,0.00:0.85,0.00,0.00:60,55,60:51.6,69.0,75.4:0,0,0:0,0,0:42,70,50:86,61,70:39,0,33:chr1 g.187585679G>A (intergenic),-:0.54,-:NOT_FOUND,- 1 187585913 rs6674444 A G 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.5637,G/0.4363;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:10:0:0:8,12:242,382:0.00,38.08:0.00,18.83:0.00,19.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.1,75.0:0,0:0,0:95,103:50,45:40,41:-,chr1 g.187585912A>G (intergenic):-,0.38:-,NOT_FOUND 1 187585929 rs12137244 G A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8532,A/0.1468;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:10:0:0:8,7:221,229:21.38,0.00:18.21,0.00:3.17,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:101.8,68.9:0,0:0,0:47,105:103,44:10,34:chr1 g.187585928G>A (intergenic),-:0.16,-:NOT_FOUND,- 1 187585931 rs6425110 A G 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.02895,G/0.971;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:10:0:0:15:446:51.65:28.14:23.51:1.00:1.00:1.00:60:86.3:0:0:50:101:31:chr1 g.187585930A>G (intergenic),chr1 g.187585930A>G (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 1 187586155 rs74183896 G A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.853,A/0.147;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,G:5:3:0:0:4,1:126,21:13.43,0.00:2.94,0.00:10.49,0.00:0.96,0.00:0.99,0.00:1.00,0.00:60,60:49.0,91.0:0,0:0,0:107,83:36,66:20,0:chr1 g.187586154G>A (intergenic),-:0.16,-:NOT_FOUND,- 1 187770543 rs60263600 A ATGTGTGTG 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=40;PC=0.003;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:ATGTGTGTG:3:4:4:0:3:135:11.16:3.70:7.45:0.85:0.85:0.85:60:19.3:1:0:56:74:19:chr1 g.187770543_187770544insTGTGTGTG (intergenic),chr1 g.187770543_187770544insTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 187838309 rs60327938 A AACACACAC 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;NP=5;NP=6;PC=0.016;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,AACACACAC:4:4:2:0:2,2:67,67:0.00,6.45:0.00,6.60:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,60:0.0,11.5:0,0:0,0:104,41:37,110:10,26:-,chr1 g.187838309_187838310insACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 187965038 rs200979246 CCACA C 13 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=24;PC=0.045;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:CCACA,C:7:8:0:7:3,4:102,214:0.00,12.85:0.00,8.33:0.00,4.53:0.00,0.84:0.00,0.97:0.00,0.96:60,60:3.0,42.0:0,3:0,0:95,39:37,99:12,20:-,chr1 g.187965039_187965042delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 188075101 rs57613375 CCA C 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=44;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:3:0:4:2:134:7.05:1.84:5.21:0.51:0.89:0.79:70:0.0:2:0:90:60:17:chr1 g.188075102_188075103delCA (intergenic),chr1 g.188075102_188075103delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 188382450 rs6667131 T A 15 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2089,A/0.7911 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:128:14.71:1.79:12.92:1.00:1.00:1.00:60:64.8:0:0:60:90:14:chr1 g.188382449T>A (intergenic),chr1 g.188382449T>A (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 1 188394553 rs57421733 TTG T 12 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:TTG,I,T:8:8:2:4:2,2,4:68,66,123:0.00,6.10,12.40:0.00,4.64,9.63:0.00,1.46,2.77:0.00,0.00,0.87:0.00,0.00,0.87:0.00,0.00,0.96:60,60,60:58.0,43.5,6.8:0,0,0:0,0,0:115,43,25:36,92,118:9,2,6:-,chr1 g.188394554_188394555delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 189112768 rs368168774 AAC A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=40;PC=0.013;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AAC,A:4:4:0:3:2,2:68,99:0.00,6.31:0.00,3.05:0.00,3.27:0.00,0.46:0.00,0.87:0.00,0.70:60,60:22.5,0.0:0,1:0,0:81,29:60,122:6,11:-,chr1 g.189112769_189112770delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 189235198 rs12144406 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5455,A/0.4545;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:11:11:0:0:7,4:230,109:23.21,0.00:23.21,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:67.1,0.5:0,0:0,0:55,49:96,100:17,19:chr1 g.189235197G>A (intergenic),-:0.48,-:NOT_FOUND,- 1 189235262 rs10921611 C T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.381,T/0.619;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:22:21:0:0:9,1,12:308,11,373:0.00,0.22,36.75:0.00,0.24,32.22:0.00,-0.02,4.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:3.8,20.0,52.7:0,0,0:0,0,0:63,8,30:88,142,121:33,0,20:-,chr1 g.189235261C>T (intergenic):-,0.62:-,NOT_FOUND 1 189235280 rs67641251 GGACCAA G 44 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=561;PC=0.065;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGACCAA,G:25:23:0:14:11,14:372,449:0.00,44.13:0.00,34.52:0.00,9.61:0.00,1.00:0.00,1.00:0.00,1.00:60,70:2.9,43.6:0,0:0,0:53,42:97,103:34,23:-,chr1 g.189235281_189235286delGACCAA (intergenic):-,0.47:-,NOT_FOUND 1 189235481 . C . . NT END=189304644;NT GT ./. 1 189264233 rs375418142 CGTGT C 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=17;PC=0.027;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CGTGT,C:5:5:0:4:2,3:71,128:0.00,9.83:0.00,4.76:0.00,5.06:0.00,0.73:0.00,0.96:0.00,0.96:60,60:21.5,13.7:0,1:0,0:123,47:28,88:20,16:-,chr1 g.189264234_189264237delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 189304588 rs1539389 T C 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4962,C/0.5038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:12:0:0:9,6:306,202:30.51,0.00:15.59,0.00:14.92,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:34.0,8.8:0,0:0,0:25,15:123,135:19,12:chr1 g.189304587T>C (intergenic),-:0.53,-:NOT_FOUND,- 1 189304664 . A . . NT END=190067147;NT GT ./. 1 189799887 . GTTTTTT G 6 nt VT=DEL;SST=Single;DP=4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GTTTTTT,G:4:4:0:2:2,2:69,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:106.0,9.5:0,0:0,0:11,84:139,67:0,25:-,chr1 g.189799888_189799893delTTTTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 190068265 . C . . NT END=190123138;NT GT ./. 1 190068427 rs71679347 TAC T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=BRINP3/NM_001317188/0;CC=c.879-165_879-164delGT;VC=Intron;Gene=BRINP3/NM_199051.1/1;CC=c.1185-165_1185-164delGT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:TAC,T:5:2:0:4:2,3:58,121:0.00,9.23:0.00,1.39:0.00,7.84:0.00,0.73:0.00,0.79:0.00,0.73:60,60:0.0,3.3:0,1:0,0:95,64:55,86:52,38:-,NM_199051.1(FAM5C) c.1185-165_1185-164delGT:-,NOT_FOUND:-,NOT_FOUND 1 190123195 rs4576663 T C 106 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.02157,C/0.9784;Gene=BRINP3/NM_001317188/0;CC=c.878+6603A>G;VC=Intron;Gene=BRINP3/NM_199051.1/1;CC=c.1184+6603A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:17:0:0:27:933:106.18:49.06:57.12:1.00:1.00:1.00:60:36.6:0:0:63:83:23:NM_199051.1(FAM5C) c.1184+6603A>G,NM_199051.1(FAM5C) c.1184+6603A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 190123240 . C . . NT END=190129797;NT GT ./. 1 190130021 . C . . NT END=190195211;NT GT ./. 1 190130209 rs1333321 T C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7131,C/0.2869;PC=0.001;Gene=BRINP3/NM_001317188/0;CC=c.656-189A>G;VC=Intron;Gene=BRINP3/NM_199051.1/1;CC=c.962-189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:7:0:0:0:4,3:126,78:12.45,0.00:0.00,0.00:12.45,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:42.8,13.7:0,0:0,0:120,128:31,23:15,13:NM_199051.1(FAM5C) c.962-189A>G,-:0.31,-:NOT_FOUND,- 1 190195449 . C . . NT END=190203501;NT GT ./. 1 190203608 . C . . NT END=190233994;NT GT ./. 1 190234186 . C . . NT END=190250689;NT GT ./. 1 190234239 rs77612267 T A 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7804,A/0.2196;Gene=BRINP3/NM_001317188/0;CC=c.122-54A>T;VC=Intron;Gene=BRINP3/NM_199051.1/1;CC=c.428-54A>T;VC=Intron;DM=BRINP3/MACPF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:42:8:0:0:17,25:549,796:50.72,0.00:9.76,0.00:40.95,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:38.2,13.7:0,0:0,0:115,98:35,52:27,37:NM_199051.1(FAM5C) c.428-54A>T,-:0.19,-:NOT_FOUND,- 1 190250881 . C . . NT END=190423784;NT GT ./. 1 190251111 rs144891541 GA G 9 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=6;PC=0.005;Gene=BRINP3/NM_001317188/0;CC=c.122-16927delT;VC=Intron;Gene=BRINP3/NM_199051.1/1;CC=c.237-232delT;VC=Intron;DM=BRINP3/MACPF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:GA,G:9:0:0:3:6,3:183,98:0.00,8.75:0.00,0.00:0.00,8.75:0.00,0.64:0.00,0.00:0.00,0.64:60,60:32.0,4.0:0,0:0,0:101,91:38,60:21,12:-,NM_199051.1(FAM5C) c.237-232delT:-,0.15:-,NOT_FOUND 1 190424021 . G . . NT END=192127767;NT GT ./. 1 190504774 rs3053454 T TAC 7 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3878,TAC/0.6122,TACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=158;NP=19;PC=0.005;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TAC:2:5:5:0:2:165:6.76:3.38:3.38:0.46:0.46:0.87:60:0.0:3:0:28:102:12:chr1 g.190504774_190504775insAC (intergenic),chr1 g.190504774_190504775insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 191115638 rs10753974 C T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3842,T/0.6158;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:14:8:0:0:4,10:127,310:0.00,32.08:0.00,13.15:0.00,18.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,39.5:0,0:0,0:30,81:121,69:14,50:-,chr1 g.191115637C>T (intergenic):-,0.64:-,NOT_FOUND 1 191332517 rs1246683 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.04752,G/0.9525 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:3:0:0:7:224:25.74:5.42:20.32:1.00:1.00:1.00:60:41.6:0:0:66:70:48:chr1 g.191332516A>G (intergenic),chr1 g.191332516A>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 191672855 rs531638976 C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9978,T/0.002196;NP=5;PC=0.195 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:3:0:0:2,2:68,69:0.00,6.65:0.00,3.32:0.00,3.33:0.00,0.51:0.00,0.89:0.00,0.79:40,60:0.0,34.5:0,0:0,0:92,68:52,82:14,37:-,chr1 g.191672854C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 192127637 rs4495675 T G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5603,G/0.4397;Gene=RGS18/NM_130782.2/1;CC=c.-131T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:G,T:7:7:0:0:4,3:139,92:13.73,0.00:13.73,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:34.8,4.0:0,0:0,0:35,39:115,112:26,18:NM_130782.2(RGS18) c.-131T>G,-:0.5,-:NOT_FOUND,- 1 192127887 . G . . NT END=192128349;NT GT ./. 1 192128183 rs4454527 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3524,A/0.6476;Gene=RGS18/NM_130782.2/1;CC=c.120-167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:8:7:0:0:5,3:171,88:17.19,0.00:13.52,0.00:3.67,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:51.2,4.3:0,0:0,0:98,86:53,65:5,0:NM_130782.2(RGS18) c.120-167G>A,-:0.67,-:NOT_FOUND,- 1 192128452 . G . . NT END=192129507;NT GT ./. 1 192129370 rs4329489 G A 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.356,A/0.644;Gene=RGS18/NM_130782.2/1;CC=c.222-138G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:14:14:0:0:10,4:323,138:33.43,0.00:33.43,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.9,0.0:0,0:0,0:50,8:100,141:18,4:NM_130782.2(RGS18) c.222-138G>A,-:0.66,-:NOT_FOUND,- 1 192129570 . G . . NT END=192150421;NT GT ./. 1 192150589 . G . . NT END=192153426;NT GT ./. 1 192153685 . A . . NT END=192312166;NT GT ./. 1 192216230 rs1175148 A G 88 nt VT=SNV;PN=C;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.5286,G/0.4714;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:64:45:0:0:33,1,30:1084,12,926:0.00,-0.00,87.91:0.00,-0.13,42.28:0.00,0.13,45.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,60:2.1,80.0,46.3:0,0,0:0,0,0:60,79,65:76,55,85:29,0,42:-,chr1 g.192216229A>G (intergenic):-,0.43:-,NOT_FOUND 1 192216486 rs1175147 T C 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.5286,C/0.4714;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:27:0:0:21,22:626,757:59.55,0.00:30.63,0.00:28.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,9.3:0,0:0,0:61,29:90,117:31,13:chr1 g.192216485T>C (intergenic),-:0.43,-:NOT_FOUND,- 1 192216818 rs1175145 G A 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.5286,A/0.4714;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:22:0:0:17,21:533,648:50.05,0.00:19.37,0.00:30.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.8,5.9:0,0:0,0:88,63:63,88:32,40:chr1 g.192216817G>A (intergenic),-:0.43,-:NOT_FOUND,- 1 192216848 rs1175144 C G 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.5286,G/0.4714;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:39:22:0:0:22,17:739,524:0.00,48.88:0.00,15.74:0.00,33.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,57.6:0,0:0,0:79,84:70,66:39,34:-,chr1 g.192216847C>G (intergenic):-,0.42:-,NOT_FOUND 1 192233925 rs10047181 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6484,G/0.3516;NP=206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:2:0:0:1,3:34,101:0.00,10.55:0.00,3.25:0.00,7.30:0.00,0.85:0.00,0.95:0.00,0.99:60,60:0.0,55.0:0,0:0,0:33,40:41,111:0,22:-,chr1 g.192233924A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 192302456 rs6684918 T C 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7139,C/0.2861;PC=0.048;Gene=RGS21/NM_001039152.3/1;CC=c.-60-9651T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:3:0:0:2,3:70,96:6.49,0.00:1.62,0.00:4.88,0.00:0.46,0.00:0.80,0.00:0.46,0.00:60,60:54.0,0.0:0,0:0,0:124,73:13,14:12,52:NM_001039152.3(RGS21) c.-60-9651T>C,-:0.28,-:NOT_FOUND,- 1 192312178 . G . . NT END=192316442;NT GT ./. 1 192316520 . G . . NT END=192321176;NT GT ./. 1 192321344 . G . . NT END=192335050;NT GT ./. 1 192335255 . G . . NT END=192544922;NT GT ./. 1 192335271 rs74615895 C CTAAT 60 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5417,CTAAT/0.4583;DB;DBA=NA;PAF=NA;NP=2055;Gene=RGS21/NM_001039152.3/1;CC=c.*18_*21dupTAAT;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTAAT:38:17:20:0:18,20:608,616:0.00,59.72:0.00,21.86:0.00,37.86:0.00,1.00:0.00,1.00:0.00,1.00:60,70:6.4,4.0:1,0:0,0:95,98:43,50:37,25:-,NM_001039152.3(RGS21) c.*18_*21dupTAAT:-,0.43:-,NOT_FOUND 1 192544754 rs397696811 C CT 50 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3329,CT/0.6671,CTT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3329,CT/0.6671;NP=574;PC=0.546;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,CT,D:19:20:16:1:3,15,1:78,500,33:0.00,50.27,2.41:0.00,50.27,2.41:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:35.7,55.5,36.0:0,1,0:0,0,0:125,38,37:12,111,114:8,24,0:-,NM_002922.3(RGS1) c.-66-u103_-66-u102insT:-,NOT_FOUND:-,NOT_FOUND 1 192544795 rs2984920 A G 137 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.1288,G/0.8712;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:37:0:0:37:1194:136.95:127.46:9.49:1.00:1.00:1.00:60:46.9:0:0:34:117:20:NM_002922.3(RGS1) c.-66-u62A>G,NM_002922.3(RGS1) c.-66-u62A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 192545060 . G . . NT END=192545414;NT GT ./. 1 192545099 rs7535818 G A 188 nt VT=SNV;PN=A;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.3702,A/0.6298;Gene=RGS1/NM_002922.3/1;CC=c.137+40G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A,C:52:22:0:0:51,1:1640,12:187.88,0.26:56.35,0.26:131.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,12.0:0,0:0,0:94,139:54,12:32,0:NM_002922.3(RGS1) c.137+40G>A,NM_002922.3(RGS1) c.137+40G>A:0.62,0.62:0.655308,0.655308 1 192545496 . G . . NT END=192545903;NT GT ./. 1 192545966 . G . . NT END=192547351;NT GT ./. 1 192547516 . G . . NT END=192548266;NT GT ./. 1 192548453 . C . . NT END=192613464;NT GT ./. 1 192613530 . G . . NT END=192617055;NT GT ./. 1 192617118 . G . . NT END=192627330;NT GT ./. 1 192627498 . G . . NT END=192628467;NT GT ./. 1 192628654 . C . . NT END=192778201;NT GT ./. 1 192675939 rs12744366 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=18;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:5:5:0:0:2,3:66,96:0.00,9.57:0.00,6.11:0.00,3.46:0.00,0.78:0.00,0.78:0.00,0.97:60,60:17.5,32.0:0,0:0,0:56,83:47,42:47,0:-,chr1 g.192675938A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 192685811 rs374907769 TA T 13 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.964;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:TA,T:18:10:0:7:13,5:327,155:0.00,13.30:0.00,6.59:0.00,6.72:0.00,0.87:0.00,0.94:0.00,0.94:60,60:23.2,15.4:0,0:0,0:134,111:16,23:13,15:-,chr1 g.192685812delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 192778312 . G . . NT END=192779295;NT GT ./. 1 192779227 rs2746073 T A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7492,A/0.2508;PC=0.005;Gene=RGS2/NM_002923.3/1;CC=c.111-69T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:A,T:21:21:0:0:6,15:197,483:17.11,0.00:16.03,0.00:1.07,0.00:0.93,0.00:0.93,0.00:0.80,0.00:60,60:35.8,10.3:0,0:0,0:83,59:67,92:22,37:NM_002923.3(RGS2) c.111-69T>A,-:0.27,-:NOT_FOUND,- 1 192779398 . G . . NT END=192779499;NT GT ./. 1 192779562 . G . . NT END=192780110;NT GT ./. 1 192780088 rs5779653 GCT G 49 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=GCT/0.6797,G/0.3203;DB;DBA=NA;PAF=GCT/0.6797,G/0.3203;DB;DBA=NA;PAF=GCT/0.6797,G/0.3203;NP=1678;Gene=RGS2/NM_002923.3/1;CC=c.275-18_275-17delCT;VC=Intron;DM=RGS2/RGS;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCT,G:40:34:0:16:24,16:793,532:0.00,49.16:0.00,41.30:0.00,7.85:0.00,1.00:0.00,1.00:0.00,0.99:60,60:16.9,5.9:0,0:0,0:50,47:100,99:32,11:-,NM_002923.3(RGS2) c.275-22_275-21delCT:-,0.32:-,0.283466 1 192780278 . G . . NT END=192780531;NT GT ./. 1 192780337 rs10607546 CAA C 51 nt VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=CAA/0.6793,C/0.3207;NP=1669;PC=0.001;Gene=RGS2/NM_002923.3/1;CC=c.441+62_441+63delAA;VC=Intron;DM=RGS2/RGS;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,C:45:11:0:18:27,18:875,559:0.00,51.35:0.00,10.17:0.00,41.18:0.00,1.00:0.00,0.99:0.00,1.00:60,60:8.0,8.9:0,0:0,0:83,101:68,39:47,35:-,NM_002923.3(RGS2) c.441+61_441+62delAA:-,0.32:-,NOT_FOUND 1 192780727 . A . . NT END=192987534;NT GT ./. 1 192987951 . C . . NT END=192989016;NT GT ./. 1 192989587 . c . . NT END=192990226;NT GT ./. 1 192990035 rs68090216 ATTCT A 14 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=96;PC=0.007;Gene=UCHL5/NM_001199261.1/0;CC=c.942+188_942+191delAGAA;VC=Intron;Gene=UCHL5/NM_015984.3/0;CC=c.945+188_945+191delAGAA;VC=Intron;Gene=UCHL5/NM_001199262.1/1;CC=c.942+188_942+191delAGAA;VC=Intron;Gene=UCHL5/NM_001199263.1/0;CC=c.942+188_942+191delAGAA;VC=Intron;Gene=UCHL5/NR_037607.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:ATTCT,A:8:8:0:5:3,5:93,143:0.00,14.38:0.00,14.38:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:74.0,4.8:0,0:0,0:11,88:139,62:9,36:-,NM_015984.3(UCHL5) c.945+188_945+191delAGAA:-,0.15:-,NOT_FOUND 1 192990326 . C . . NT END=192992055;NT GT ./. 1 192991920 rs36034206 T G 30 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=12;Gene=UCHL5/NM_001199261.1/0;CC=c.843+136A>C;VC=Intron;Gene=UCHL5/NM_015984.3/0;CC=c.846+136A>C;VC=Intron;Gene=UCHL5/NM_001199262.1/1;CC=c.843+136A>C;VC=Intron;Gene=UCHL5/NM_001199263.1/0;CC=c.843+136A>C;VC=Intron;Gene=UCHL5/NR_037607.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:256:30.22:30.22:0.00:1.00:1.00:0.00:60:60.2:10:0:67:83:32:NM_015984.3(UCHL5) c.846+136A>C,NM_015984.3(UCHL5) c.846+136A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 192991921 . G GT 34 nt VT=INS;SST=Single;DP=10;NP=227;Gene=UCHL5/NM_001199261.1/0;CC=c.843+134_843+135insA;VC=Intron;Gene=UCHL5/NM_015984.3/0;CC=c.846+134_846+135insA;VC=Intron;Gene=UCHL5/NM_001199262.1/1;CC=c.843+134_843+135insA;VC=Intron;Gene=UCHL5/NM_001199263.1/0;CC=c.843+134_843+135insA;VC=Intron;Gene=UCHL5/NR_037607.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:GT:10:10:10:0:10:295:34.26:34.26:0.00:1.00:1.00:0.00:60:60.2:0:0:68:82:32:NM_015984.3(UCHL5) c.846+134_846+135insA,NM_015984.3(UCHL5) c.846+134_846+135insA:1,1:NOT_FOUND,NOT_FOUND 1 192991924 rs34849704 A C 35 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=71;PC=0.004;Gene=UCHL5/NM_001199261.1/0;CC=c.843+132T>G;VC=Intron;Gene=UCHL5/NM_015984.3/0;CC=c.846+132T>G;VC=Intron;Gene=UCHL5/NM_001199262.1/1;CC=c.843+132T>G;VC=Intron;Gene=UCHL5/NM_001199263.1/0;CC=c.843+132T>G;VC=Intron;Gene=UCHL5/NR_037607.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:299:34.61:34.61:0.00:1.00:1.00:0.00:60:60.2:10:0:72:78:32:NM_015984.3(UCHL5) c.846+132T>G,NM_015984.3(UCHL5) c.846+132T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 192992170 . C . . NT END=192992973;NT GT ./. 1 192993077 . C . . NT END=192997211;NT GT ./. 1 192997279 . C . . NT END=192998308;NT GT ./. 1 192998440 . C . . NT END=192998517;NT GT ./. 1 192998580 . C . . NT END=192998661;NT GT ./. 1 192998788 . C . . NT END=193018875;NT GT ./. 1 193018982 . C . . NT END=193020883;NT GT ./. 1 193020948 . C . . NT END=193028314;NT GT ./. 1 193027997 rs6692342 G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3231,A/0.6769;Gene=UCHL5/NM_001199261.1/0;CC=c.76+318C>T;VC=Intron;Gene=UCHL5/NM_015984.3/0;CC=c.76+318C>T;VC=Intron;Gene=UCHL5/NM_001199262.1/1;CC=c.76+318C>T;VC=Intron;Gene=UCHL5/NM_001199263.1/0;CC=c.76+318C>T;VC=Intron;Gene=UCHL5/NR_037607.1/0;VC=NonCoding;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:5:5:0:0:3,2:88,65:8.77,0.00:8.77,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:29.3,0.0:0,0:0,0:90,18:61,133:10,12:NM_015984.3(UCHL5) c.76+318C>T,-:0.66,-:NOT_FOUND,- 1 193028121 rs4657842 A T 11 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.344,T/0.656;Gene=UCHL5/NM_001199261.1/0;CC=c.76+194T>A;VC=Intron;Gene=UCHL5/NM_015984.3/0;CC=c.76+194T>A;VC=Intron;Gene=UCHL5/NM_001199262.1/1;CC=c.76+194T>A;VC=Intron;Gene=UCHL5/NM_001199263.1/0;CC=c.76+194T>A;VC=Intron;Gene=UCHL5/NR_037607.1/0;VC=NonCoding;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12;DM=UCHL5/Peptidase_C12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,T:11:11:0:0:7,4:223,123:0.00,11.08:0.00,11.08:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:3.3,39.0:0,0:0,0:36,4:115,146:9,3:-,NM_015984.3(UCHL5) c.76+194T>A:-,0.64:-,NOT_FOUND 1 193028658 . G . . NT END=193028762;NT GT ./. 1 193029215 . T . . NT END=193038184;NT GT ./. 1 193038765 . G . . NT END=193044949;NT GT ./. 1 193045171 . G . . NT END=193045630;NT GT ./. 1 193045324 rs7542466 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.404,G/0.596;PC=0.007;Gene=TROVE2/NM_001173524.1/0;CC=c.801+154A>G;VC=Intron;Gene=TROVE2/NR_033393.1/0;VC=NonCoding;Gene=TROVE2/NM_004600.5/0;CC=c.801+154A>G;VC=Intron;Gene=TROVE2/NM_001042369.2/0;CC=c.801+154A>G;VC=Intron;Gene=TROVE2/NM_001042370.2/0;CC=c.801+154A>G;VC=Intron;Gene=TROVE2/NM_001173525.1/1;CC=c.801+154A>G;VC=Intron;DM=TROVE2/TROVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,G:10:2:0:0:6,4:189,108:0.00,9.78:0.00,4.25:0.00,5.53:0.00,0.84:0.00,0.70:0.00,0.97:60,60:17.7,70.0:0,0:0,0:75,56:65,94:14,42:-,NM_001173524.1(TROVE2) c.801+154A>G:-,0.59:-,NOT_FOUND 1 193045778 . G . . NT END=193046042;NT GT ./. 1 193046181 . G . . NT END=193050493;NT GT ./. 1 193050611 . G . . NT END=193051315;NT GT ./. 1 193051430 . G . . NT END=193051691;NT GT ./. 1 193051685 rs2275444 G A 68 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.4065,A/0.5935;PC=0.001;Gene=TROVE2/NM_001173524.1/0;CC=c.1318-7G>A;VC=Intron;Gene=TROVE2/NR_033393.1/0;VC=NonCoding;Gene=TROVE2/NM_004600.5/0;CC=c.1318-7G>A;VC=Intron;Gene=TROVE2/NM_001042369.2/0;CC=c.1318-7G>A;VC=Intron;Gene=TROVE2/NM_001042370.2/0;CC=c.1318-7G>A;VC=Intron;Gene=TROVE2/NM_001173525.1/1;CC=c.1318-7G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:36:0:0:22,24:713,747:67.97,0.00:48.13,0.00:19.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,0.3:0,0:0,0:63,50:88,87:31,40:NM_001173524.1(TROVE2) c.1318-7G>A,-:0.59,-:0.668503,- 1 193051839 . G . . NT END=193053708;NT GT ./. 1 193051893 . A AT 13 idl,rn VT=INS;SST=Single;DP=26;PC=0.072;Gene=TROVE2/NM_001173524.1/0;CC=c.1464+73_1464+74insT;VC=Intron;Gene=TROVE2/NR_033393.1/0;VC=NonCoding;Gene=TROVE2/NM_004600.5/0;CC=c.1464+73_1464+74insT;VC=Intron;Gene=TROVE2/NM_001042369.2/0;CC=c.1464+73_1464+74insT;VC=Intron;Gene=TROVE2/NM_001042370.2/0;CC=c.1464+73_1464+74insT;VC=Intron;Gene=TROVE2/NM_001173525.1/1;CC=c.1464+73_1464+74insT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,AT,D:23:7:6:5:15,5,3:430,177,157:0.00,12.72,7.02:0.00,-0.37,2.03:0.00,13.09,5.00:0.00,0.82,0.00:0.00,0.74,0.00:0.00,0.98,0.00:60,60,60:13.8,26.0,15.7:0,1,2:0,0,0:128,83,81:19,52,69:6,33,20:-,NM_001173524.1(TROVE2) c.1464+55_1464+56insT:-,NOT_FOUND:-,NOT_FOUND 1 193053996 rs549404223 GA G 29 idl,rn VT=DEL;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=30;PC=0.237;Gene=TROVE2/NM_001173524.1/0;CC=c.*147delA;VC=3UTR;Gene=TROVE2/NR_033393.1/0;VC=NonCoding;Gene=TROVE2/NM_004600.5/0;CC=c.*147delA;VC=3UTR;Gene=TROVE2/NM_001042369.2/0;CC=c.1543+221delA;VC=Intron;Gene=TROVE2/NM_001042370.2/0;CC=c.1584+180delA;VC=Intron;Gene=TROVE2/NM_001173525.1/1;CC=c.1544-111delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:GA,T,I,G:110:68:13:16:85,1,12,12:2569,10,416,500:0.00,-0.24,28.20,28.70:0.00,-0.06,14.78,21.22:0.00,-0.19,13.41,7.47:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:19.2,10.0,11.3,12.2:0,0,1,4:0,0,0,0:74,134,101,64:61,13,50,86:44,0,32,31:-,NM_001173524.1(TROVE2) c.*136A[11]:-,NOT_FOUND:-,NOT_FOUND 1 193054346 rs397940332 T TA 13 sb;idl,rn VT=INS;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=3;PC=0.024;Gene=TROVE2/NM_001173524.1/0;CC=c.*496dupA;VC=3UTR;Gene=TROVE2/NR_033393.1/0;VC=NonCoding;Gene=TROVE2/NM_004600.5/0;CC=c.*496dupA;VC=3UTR;Gene=TROVE2/NM_001042369.2/0;CC=c.1543+570dupA;VC=Intron;Gene=TROVE2/NM_001042370.2/0;CC=c.1584+529dupA;VC=Intron;Gene=TROVE2/NM_001173525.1/1;CC=c.*38+187dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:G,T,TA,D:71:43:7:4:1,60,6,4:13,1819,226,123:-0.12,0.00,13.43,7.71:-0.15,0.00,12.00,-0.63:0.04,0.00,1.43,8.33:0.00,0.00,0.79,0.00:0.00,0.00,0.92,0.00:0.00,0.00,0.95,0.00:60,60,60,60:80.0,10.1,7.8,0.0:0,2,1,0:0,0,0,0:30,56,62,36:121,93,87,114:0,40,6,18:-,NM_001173524.1(TROVE2) c.*496dupA:-,NOT_FOUND:-,NOT_FOUND 1 193054485 rs10801173 T C 65 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.4309,C/0.5691,G/.;PC=0.017;Gene=TROVE2/NM_001173524.1/0;CC=c.*624T>C;VC=3UTR;Gene=TROVE2/NR_033393.1/0;VC=NonCoding;Gene=TROVE2/NM_004600.5/0;CC=c.*624T>C;VC=3UTR;Gene=TROVE2/NM_001042369.2/0;CC=c.1543+698T>C;VC=Intron;Gene=TROVE2/NM_001042370.2/0;CC=c.1584+657T>C;VC=Intron;Gene=TROVE2/NM_001173525.1/1;CC=c.*38+315T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:37:0:0:24,33:701,1064:64.66,0.00:33.79,0.00:30.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,9.5:0,0:0,0:55,62:96,85:34,39:NM_001173524.1(TROVE2) c.*624T>C,-:0.56,-:NOT_FOUND,- 1 193054575 . C CT 23 idl,rn VT=INS;SST=Single;DP=59;NP=1;Gene=TROVE2/NM_001173524.1/0;CC=c.*726dupT;VC=3UTR;Gene=TROVE2/NR_033393.1/0;VC=NonCoding;Gene=TROVE2/NM_004600.5/0;CC=c.*726dupT;VC=3UTR;Gene=TROVE2/NM_001042369.2/0;CC=c.1543+800dupT;VC=Intron;Gene=TROVE2/NM_001042370.2/0;CC=c.1584+759dupT;VC=Intron;Gene=TROVE2/NM_001173525.1/1;CC=c.*38+417dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,CT,D:57:37:9:10:40,9,8:1277,286,331:0.00,22.68,20.65:0.00,10.71,7.38:0.00,11.96,13.27:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.99,0.00:60,60,60:34.9,31.1,13.1:0,0,2:0,0,0:74,84,95:76,61,53:33,28,24:-,NM_001173524.1(TROVE2) c.*726dupT:-,NOT_FOUND:-,NOT_FOUND 1 193055116 . T . . NT END=193060780;NT GT ./. 1 193060816 . A . . NT END=193065754;NT GT ./. 1 193065890 . C . . NT END=193066713;NT GT ./. 1 193066891 . C . . NT END=193070270;NT GT ./. 1 193070335 . C . . NT END=193074359;NT GT ./. 1 193074365 . C . . NT END=193074393;NT GT ./. 1 193074371 rs10801175 A G 351 nt VT=SNV;PN=C;NN=C;SST=Single;DP=240;DB;DBA=NA;PAF=A/0.3183,G/0.6817;Gene=GLRX2/NM_197962.2/0;CC=c.119+23T>C;VC=Intron;Gene=GLRX2/NM_001243399.1/0;CC=c.-2+377T>C;VC=Intron;Gene=GLRX2/NM_016066.4/1;CC=c.122+276T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:240:186:0:0:118,2,119,1:3647,18,3655,22:0.00,-0.28,350.50,0.26:0.00,-0.26,188.22,0.33:0.00,-0.02,162.28,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:5.7,38.0,44.6,255.0:0,0,0,0:0,0,0,0:59,37,63,77:83,113,85,67:34,14,32,0:-,NM_016066.4(GLRX2) c.122+276T>C:-,0.64:-,0.768873 1 193074609 . t . . NT END=193074646;NT GT ./. 1 193074651 rs10921310 T A 191 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=T/0.3193,A/0.6807;Gene=GLRX2/NM_001243399.1/0;CC=c.-2+97A>T;VC=Intron;Gene=GLRX2/NM_016066.4/1;CC=c.118A>T;ProtCh=p.R40W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:152:74:0:0:68,3,81:2031,33,2438:190.89,0.00,0.00:56.10,0.41,0.00:134.80,-0.41,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.7,76.0,11.9:0,0,0:0,0,0:90,119,75:57,32,76:31,9,43:NM_016066.4(GLRX2) c.118A>T (p.Arg40Trp),-:0.64,-:0.736931,- 1 193075108 rs912071 C T 124 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.3337,T/0.6663;Gene=GLRX2/NM_001243399.1/0;CC=c.-362G>A;VC=5UTR;Gene=GLRX2/NM_016066.4/1;CC=c.-340G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:93:46:0:0:1,48,44:10,1412,1308:-0.12,0.00,123.94:-0.06,0.00,59.77:-0.06,0.00,64.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:33.0,22.7,39.3:0,2,0:0,0,0:29,80,99:121,62,47:0,36,28:-,NM_016066.4(GLRX2) c.-340G>A:-,0.63:-,NOT_FOUND 1 193075118 rs397698385 C CAA 74 idl,rn VT=INS;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.3415,CAA/0.6585,CAAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3415,CAA/0.6585;DB;DBA=NA;PAF=C/0.3415,CAA/0.6585;DB;DBA=NA;PAF=C/0.3415,CAA/0.6585;NP=1;NP=1;NP=147;Gene=GLRX2/NM_001243399.1/0;CC=c.-374_-373dupTT;VC=5UTR;Gene=GLRX2/NM_016066.4/1;CC=c.-352_-351dupTT;VC=5UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CAA,D:74:42:34:4:2,42,26,4:65,1219,1042,117:3.78,0.00,74.11,7.47:1.81,0.00,36.92,0.83:1.97,0.00,37.19,6.65:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:43.0,29.8,49.2,26.0:1,0,8,0:0,0,0,0:23,94,87,57:127,48,60,87:22,38,26,10:-,NM_016066.4(GLRX2) c.-362T[14]:-,NOT_FOUND:-,NOT_FOUND 1 193075184 . A . . NT END=193091330;NT GT ./. 1 193075444 rs912070 A C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3321,C/0.6679 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:15:0:0:9,14:295,415:0.00,41.40:0.00,24.64:0.00,16.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.7,35.6:0,0:0,0:74,75:77,75:43,42:-,NM_016066.4(GLRX2) c.-476-u200T>G:-,0.63:-,NOT_FOUND 1 193091462 . G . . NT END=193094241;NT GT ./. 1 193094348 . G . . NT END=193099303;NT GT ./. 1 193094375 rs4466634 T C 17 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=in-clinvar;PAF=T/0.4097,C/0.5903,G/.;PC=0.012;Gene=CDC73/NM_024529.4/1;CC=c.237+28T>C;VC=Intron;DM=CDC73/CDC73_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:C,T:15:7:0:0:6,9:186,296:17.08,0.00:0.96,0.00:16.11,0.00:0.96,0.00:0.96,0.00:1.00,0.00:60,60:31.0,3.9:0,0:0,0:110,100:40,50:32,17:NM_024529.4(CDC73) c.237+28T>C,-:0.56,-:0.633861,- 1 193099374 . G . . NT END=193104520;NT GT ./. 1 193104584 . G . . NT END=193104666;NT GT ./. 1 193104720 . G . . NT END=193107214;NT GT ./. 1 193104827 rs10921318 G A 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4239,A/0.5761;PC=0.011;Gene=CDC73/NM_024529.4/1;CC=c.423+108G>A;VC=Intron;DM=CDC73/CDC73_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:8,7:238,241:23.08,0.00:0.00,0.00:23.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:45.5,3.6:0,0:0,0:100,109:50,42:22,1:NM_024529.4(CDC73) c.423+108G>A,-:0.51,-:NOT_FOUND,- 1 193107304 . G . . NT END=193110979;NT GT ./. 1 193111197 . G . . NT END=193116996;NT GT ./. 1 193111228 rs80356646 TGA T 7 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=in-clinvar;PAF=NA;NP=224;PC=0.012;Gene=CDC73/NM_024529.4/1;CC=c.729+50_729+51delAG;VC=Intron;DM=CDC73/CDC73_N;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:TGA,I,T:24:2:1:3:20,1,3:662,26,97:0.00,1.33,7.26:0.00,-0.03,-0.09:0.00,1.36,7.35:0.00,0.00,0.47:0.00,0.00,0.36:0.00,0.00,0.89:60,60,60:7.9,0.0,3.3:0,0,0:0,0,0:117,25,84:33,125,67:27,0,6:-,NM_024529.4(CDC73) c.729+33_729+34delGA:-,NOT_FOUND:-,NOT_FOUND 1 193117096 . G . . NT END=193119433;NT GT ./. 1 193119513 . G . . NT END=193121509;NT GT ./. 1 193121575 . G . . NT END=193149423;NT GT ./. 1 193150693 . G . . NT END=193172924;NT GT ./. 1 193172983 . G . . NT END=193181194;NT GT ./. 1 193181231 . G . . NT END=193181519;NT GT ./. 1 193181608 . G . . NT END=193202122;NT GT ./. 1 193202001 rs10921328 C G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4085,G/0.5915;PC=0.001;Gene=CDC73/NM_024529.4/1;CC=c.1155-122C>G;VC=Intron;DM=CDC73/CDC73_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:23:0:0:14,9:461,320:0.00,29.61:0.00,29.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:25.4,36.7:0,0:0,0:48,78:101,73:35,31:-,NM_024529.4(CDC73) c.1155-122C>G:-,0.56:-,NOT_FOUND 1 193202032 rs532477841 CA C 9 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=57;PC=0.184;Gene=CDC73/NM_024529.4/1;CC=c.1155-79delA;VC=Intron;DM=CDC73/CDC73_C;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:CA,I,C:25:24:1:4:20,1,4:665,32,121:0.00,1.93,9.31:0.00,1.95,9.43:0.00,-0.03,-0.11:0.00,0.00,0.67:0.00,0.00,0.96:0.00,0.00,0.41:60,60,60:25.6,0.0,30.0:0,0,0:0,0,0:56,15,63:93,134,87:30,0,30:-,NM_024529.4(CDC73) c.1155-90delA:-,NOT_FOUND:-,NOT_FOUND 1 193202285 . G . . NT END=193205385;NT GT ./. 1 193205272 rs3738244 T A 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3516,A/0.6484;Gene=CDC73/NM_024529.4/1;CC=c.1317-114T>A;VC=Intron;DM=CDC73/CDC73_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:17:17:0:0:10,7:317,198:31.47,0.00:31.47,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.8,20.4:0,0:0,0:50,63:101,88:20,33:NM_024529.4(CDC73) c.1317-114T>A,-:0.6,-:NOT_FOUND,- 1 193205487 . G . . NT END=193218859;NT GT ./. 1 193219002 . G . . NT END=193219805;NT GT ./. 1 193219843 . A . . NT END=196197353;NT GT ./. 1 193490514 rs146974652 T TTGTGTGTGTG 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=122;NP=26;PC=0.021;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TTGTGTGTGTG:4:5:4:0:1,3:33,121:0.00,9.16:0.00,5.81:0.00,3.36:0.00,0.78:0.00,0.78:0.00,0.94:60,60:0.0,0.0:0,1:0,0:41,80:28,68:0,19:-,chr1 g.193490514_193490515insTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 193580393 rs71111484 T C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1,C/0.9;DB;DBA=NA;PAF=NA;NP=393;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:185:21.32:15.25:6.07:1.00:1.00:1.00:60:40.3:0:0:78:55:19:chr1 g.193580392T>C (intergenic),chr1 g.193580392T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 193821444 rs72369329 C A,ACACACA 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2572,A/0.7428;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=305 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:65:A,ACACACA:6:5:2:0:4,2:137,68:14.90,6.80:7.55,5.10:7.35,1.70:0.93,0.00:0.99,0.00:0.99,0.00:60,70:43.0,34.5:0,0:0,0:44,58:59,92:14,26:chr1 g.193821443C>A (intergenic),chr1 g.193821444delCinsACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 194158916 rs1982793 A G 86 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1376,G/0.8624;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:14:0:0:23:753:86.26:38.85:47.41:1.00:1.00:1.00:60:44.1:0:0:83:68:33:chr1 g.194158915A>G (intergenic),chr1 g.194158915A>G (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 194187882 rs57642963 G GCACACACACA 15 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2198,GCACACA/.,GCACACACA/.,GCACACACACA/0.7802,GCACACATA/.;DB;DBA=NA;PAF=NA;NP=13;NP=7;NP=8;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GCACACACACA:4:5:5:0:4:167:14.72:9.10:5.62:0.96:0.96:0.99:60:0.0:1:0:72:77:12:chr1 g.194187882_194187883insCACACACACA (intergenic),chr1 g.194187882_194187883insCACACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 194506088 rs564221711 C CTG 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=23;PC=0.001;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,CTG:6:6:3:0:3,3:100,93:0.00,8.92:0.00,7.64:0.00,1.29:0.00,0.73:0.00,0.73:0.00,0.51:60,60:8.0,40.0:0,0:0,0:92,29:59,110:5,13:-,chr1 g.194506088_194506089insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 194737785 rs71565557 T TACACAC 6 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=10;NP=2;NP=2;NP=6;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T,TACACAC,D:6:6:2:1:1,2,2,1:35,67,67,33:3.04,0.00,6.35,2.84:1.52,0.00,3.17,1.42:1.52,0.00,3.17,1.42:0.00,0.00,0.42,0.00:0.00,0.00,0.42,0.00:0.00,0.00,0.42,0.00:60,60,60,60:46.0,12.0,12.5,0.0:0,0,0,0:0,0,0,0:8,31,35,51:121,92,74,68:0,15,26,0:-,chr1 g.194737785_194737786insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 194916303 rs57750207 CGT C 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=25;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:CGT,C:4:3:0:4:1,3:20,109:0.00,9.17:0.00,4.98:0.00,4.18:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,7.7:0,1:0,0:86,82:37,68:0,23:-,chr1 g.194916304_194916305delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 195438159 rs58343040 A AAC 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=31;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,AAC:4:4:3:0:1,3:31,91:0.00,9.55:0.00,6.35:0.00,3.20:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,50.7:0,0:0,0:67,67:84,84:0,19:-,chr1 g.195438159_195438160insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 195834091 rs71154709 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4297,C/0.5703;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:137:15.61:9.79:5.82:1.00:1.00:1.00:60:127.5:0:0:46:102:22:chr1 g.195834090T>C (intergenic),chr1 g.195834090T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 195954813 rs1597732 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4357,T/0.5643;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:136:15.51:8.00:7.50:1.00:1.00:1.00:60:61.8:0:0:77:61:26:chr1 g.195954812C>T (intergenic),chr1 g.195954812C>T (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 1 196197466 . C . . NT END=196205115;NT GT ./. 1 196205201 . C . . NT END=196226312;NT GT ./. 1 196226889 rs588211 C A 246 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.00619,A/0.9938;NP=18;Gene=KCNT2/NM_001287819.1/0;CC=c.3139+435G>T;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.3010+435G>T;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.3211+435G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:44:0:0:66:2151:246.50:136.67:109.83:1.00:1.00:1.00:60:39.5:0:0:77:73:31:NM_198503.2(KCNT2) c.3211+435G>T,NM_198503.2(KCNT2) c.3211+435G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 196227526 rs977157 A G 522 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=140;DB;DBA=NA;PAF=A/0.01278,G/0.9872;PC=1.000;Gene=KCNT2/NM_001287819.1/0;CC=c.2937T>C;ProtCh=p.D979=;VC=Silent;Gene=KCNT2/NM_001287820.1/0;CC=c.2808T>C;ProtCh=p.D936=;VC=Silent;Gene=KCNT2/NM_198503.3/1;CC=c.3009T>C;ProtCh=p.D1003=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:140:88:0:0:140:4554:521.93:241.01:280.93:1.00:1.00:1.00:60:39.4:0:0:70:72:27:NM_198503.2(KCNT2) c.=,NM_198503.2(KCNT2) c.=:0.99,0.99:0.986468,0.986468 1 196227625 . C . . NT END=196242597;NT GT ./. 1 196242619 . C . . NT END=196249989;NT GT ./. 1 196242764 rs558895 T G 22 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.08706,G/0.9129;Gene=KCNT2/NM_001287819.1/0;CC=c.2838+7226A>C;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.2689-146A>C;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.2910+7226A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:189:21.76:1.74:20.02:1.00:1.00:1.00:60:34.7:0:0:44:106:15:NM_198503.2(KCNT2) c.2910+7226A>C,NM_198503.2(KCNT2) c.2910+7226A>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 196250119 . C . . NT END=196251402;NT GT ./. 1 196251487 . C . . NT END=196254786;NT GT ./. 1 196251522 rs2477357 T C 141 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.2841,C/0.7159;PC=0.001;Gene=KCNT2/NM_001287819.1/0;CC=c.2626-36A>G;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.2476-36A>G;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.2698-36A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C,G:38:24:0:0:37,1:1241,25:141.28,1.41:54.26,0.00:87.02,1.41:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,46.0:0,0:0,0:96,21:53,130:24,0:NM_198503.2(KCNT2) c.2698-36A>G,NM_198503.2(KCNT2) c.2698-36A>G:0.73,0.73:0.703869,0.703869 1 196251694 rs2477358 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.01238,T/0.9876;Gene=KCNT2/NM_001287819.1/0;CC=c.2626-208G>A;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.2476-208G>A;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.2698-208G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:173:20.09:0.00:20.09:1.00:0.00:1.00:60:37.5:0:0:69:81:13:NM_198503.2(KCNT2) c.2698-208G>A,NM_198503.2(KCNT2) c.2698-208G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 196254889 . C . . NT END=196274363;NT GT ./. 1 196254970 rs2477360 C T 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.00619,T/0.9938;Gene=KCNT2/NM_001287819.1/0;CC=c.2524-82G>A;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.2374-82G>A;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.2596-82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:5:0:0:19:626:71.62:9.19:62.43:1.00:1.00:1.00:60:34.8:0:0:91:57:38:NM_198503.2(KCNT2) c.2596-82G>A,NM_198503.2(KCNT2) c.2596-82G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 196274476 . C . . NT END=196285021;NT GT ./. 1 196285157 . C . . NT END=196288613;NT GT ./. 1 196288686 . C . . NT END=196295846;NT GT ./. 1 196296020 . C . . NT END=196300285;NT GT ./. 1 196300392 . C . . NT END=196302976;NT GT ./. 1 196303191 . C . . NT END=196309470;NT GT ./. 1 196303297 rs398049948 TAG T 10 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=102;Gene=KCNT2/NM_001287819.1/0;CC=c.1784-109_1784-108delCT;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.1634-109_1634-108delCT;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.1784-109_1784-108delCT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:TAG,T:17:0:0:4:13,4:405,126:0.00,10.48:0.00,0.00:0.00,10.48:0.00,0.74:0.00,0.00:0.00,0.74:60,60:1.8,0.5:0,0:0,0:134,61:17,89:12,31:-,NM_198503.2(KCNT2) c.1784-109_1784-108delCT:-,0.13:-,NOT_FOUND 1 196309523 rs142546287 C T 90 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.9774,T/0.02256;PC=0.034;Gene=KCNT2/NM_001287819.1/0;CC=c.1731G>A;ProtCh=p.S577=;VC=Silent;Gene=KCNT2/NM_001287820.1/0;CC=c.1581G>A;ProtCh=p.S527=;VC=Silent;Gene=KCNT2/NM_198503.3/1;CC=c.1731G>A;ProtCh=p.S577=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:53:0:0:33,31:1070,948:0.00,90.28:0.00,66.25:0.00,24.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,37.3:0,0:0,0:67,71:78,79:23,22:-,NM_198503.2(KCNT2) c.1731G>A (p.(=)):-,0.03:-,0.048824 1 196309701 . C . . NT END=196311208;NT GT ./. 1 196309735 rs115660451 T G 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.9776,G/0.02236;PC=0.014;Gene=KCNT2/NM_001287819.1/0;CC=c.1554-35A>C;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.1404-35A>C;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.1554-35A>C;VC=Intron;DM=KCNT2/BK_channel_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:32:9:0:0:19,13:613,433:60.95,0.00:13.42,0.00:47.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.3,2.3:0,0:0,0:85,118:63,33:24,18:NM_198503.2(KCNT2) c.1554-35A>C,-:0.03,-:0.046899,- 1 196311380 . a . . NT END=196342269;NT GT ./. 1 196311513 rs6658788 G A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5655,A/0.4345;Gene=KCNT2/NM_001287819.1/0;CC=c.1404-155C>T;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.1404-1813C>T;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.1404-155C>T;VC=Intron;DM=KCNT2/BK_channel_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:12:0:0:0:5,7:162,213:15.05,0.00:0.00,0.00:15.05,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:39.8,0.0:0,0:0,0:121,124:30,27:14,7:NM_198503.2(KCNT2) c.1404-155C>T,-:0.44,-:NOT_FOUND,- 1 196342155 rs113243480 G A 8 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9774,A/0.02256;PC=0.006;Gene=KCNT2/NM_001287819.1/0;CC=c.1403+115C>T;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.1403+115C>T;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.1403+115C>T;VC=Intron;DM=KCNT2/BK_channel_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:10:10:0:0:3,7:93,223:8.08,0.00:8.08,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:60,60:31.0,11.7:0,0:0,0:4,57:147,94:2,33:NM_198503.2(KCNT2) c.1403+115C>T,-:0.03,-:NOT_FOUND,- 1 196342379 . C . . NT END=196367692;NT GT ./. 1 196367802 . C . . NT END=196373261;NT GT ./. 1 196373288 . t . . NT END=196392179;NT GT ./. 1 196392172 rs111737299 A T 63 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.9752,T/0.02476;PC=1.000;Gene=KCNT2/NM_001287819.1/0;CC=c.1185+8T>A;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.1185+8T>A;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.1185+8T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:35:25:0:0:15,20:492,639:0.00,63.06:0.00,31.41:0.00,31.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,37.4:0,0:0,0:71,43:80,104:23,15:-,NM_198503.2(KCNT2) c.1185+8T>A:-,0.04:-,0.056077 1 196392244 . C . . NT END=196394981;NT GT ./. 1 196395119 . C . . NT END=196397234;NT GT ./. 1 196397400 . C . . NT END=196398706;NT GT ./. 1 196398619 rs1538684 T C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=KCNT2/NM_001287819.1/0;CC=c.819+88A>G;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.819+88A>G;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.819+88A>G;VC=Intron;DM=KCNT2/Ion_trans_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:9,11:274,368:25.70,0.00:25.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.8,2.1:0,0:0,0:92,60:59,91:36,32:NM_198503.2(KCNT2) c.819+88A>G,-:0.49,-:NOT_FOUND,- 1 196398888 . C . . NT END=196434422;NT GT ./. 1 196398974 rs12121250 T A 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.5094,A/0.4906;Gene=KCNT2/NM_001287819.1/0;CC=c.639-87A>T;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.639-87A>T;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.639-87A>T;VC=Intron;DM=KCNT2/Ion_trans_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:4:0:0:12,10:373,306:36.41,0.00:6.54,0.00:29.87,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:37.2,13.6:0,0:0,0:91,106:57,45:20,24:NM_198503.2(KCNT2) c.639-87A>T,-:0.5,-:NOT_FOUND,- 1 196434518 . C . . NT END=196436832;NT GT ./. 1 196436917 . C . . NT END=196438123;NT GT ./. 1 196438199 . C . . NT END=196448308;NT GT ./. 1 196448369 . C . . NT END=196451460;NT GT ./. 1 196451510 . C . . NT END=196458967;NT GT ./. 1 196459068 . C . . NT END=196461391;NT GT ./. 1 196461472 . C . . NT END=196577344;NT GT ./. 1 196461513 rs4607811 C T 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.01677,T/0.9832;Gene=KCNT2/NM_001287819.1/0;CC=c.96-42G>A;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.96-42G>A;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.96-42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:3:0:0:10:337:38.47:11.33:27.14:1.00:1.00:1.00:60:35.6:0:0:96:54:32:NM_198503.2(KCNT2) c.96-42G>A,NM_198503.2(KCNT2) c.96-42G>A:0.98,0.98:0.984012,0.984012 1 196480246 rs71996251 AAC A 8 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;PC=0.018;Gene=KCNT2/NM_001287819.1/0;CC=c.96-18777_96-18776delGT;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.96-18777_96-18776delGT;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.96-18777_96-18776delGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:AAC,A:5:4:0:3:2,3:70,80:0.00,7.97:0.00,4.08:0.00,3.88:0.00,0.78:0.00,0.97:0.00,0.97:60,60:17.0,44.0:0,0:0,0:123,19:23,132:11,1:-,NM_198503.2(KCNT2) c.96-18777_96-18776delGT:-,NOT_FOUND:-,NOT_FOUND 1 196495125 rs7512647 A G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01677,G/0.9832;Gene=KCNT2/NM_001287819.1/0;CC=c.96-33654T>C;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.96-33654T>C;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.96-33654T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:143:16.66:12.89:3.78:1.00:1.00:1.00:60:60.2:0:0:70:80:22:NM_198503.2(KCNT2) c.96-33654T>C,NM_198503.2(KCNT2) c.96-33654T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 196577153 rs118059495 C G 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9954,G/0.004593;NP=8;PC=0.982;Gene=KCNT2/NM_001287819.1/0;CC=c.95+192G>C;VC=Intron;Gene=KCNT2/NM_001287820.1/0;CC=c.95+192G>C;VC=Intron;Gene=KCNT2/NM_198503.3/1;CC=c.95+192G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,G:11:11:0:0:3,8:101,276:0.00,28.62:0.00,28.90:0.00,-0.28:0.00,1.00:0.00,1.00:0.00,0.82:60,60:0.0,37.4:0,0:0,0:3,61:148,90:3,34:-,NM_198503.2(KCNT2) c.95+192G>C:-,0.01:-,NOT_FOUND 1 196577440 . C . . NT END=196621247;NT GT ./. 1 196621306 . G . . NT END=196642107;NT GT ./. 1 196641973 . GGA G 10 rn VT=DEL;SST=Single;DP=27;NP=5;PC=0.022;Gene=CFH/NM_001014975.2/0;CC=c.59-114_59-113delGA;VC=Intron;Gene=CFH/NM_000186.3/1;CC=c.59-114_59-113delGA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:GGA,G:26:27:0:5:22,4:711,157:0.00,10.06:0.00,10.06:0.00,0.00:0.00,0.66:0.00,0.66:0.00,0.00:60,60:25.5,0.0:0,1:0,0:48,18:102,131:29,2:-,NM_000186.3(CFH) c.59-134_59-133delGA:-,NOT_FOUND:-,NOT_FOUND 1 196642294 . G . . NT END=196642986;NT GT ./. 1 196643093 . G . . NT END=196645118;NT GT ./. 1 196645196 . G . . NT END=196646605;NT GT ./. 1 196646798 . G . . NT END=196648752;NT GT ./. 1 196648614 . G A 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;PC=0.001;Gene=CFH/NM_001014975.2/0;CC=c.620-139G>A;VC=Intron;Gene=CFH/NM_000186.3/1;CC=c.620-139G>A;VC=Intron;DM=CFH/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G:17:17:0:0:12,5:378,127:39.04,0.00:39.04,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.7,9.2:0,0:0,0:54,28:97,123:41,17:NM_000186.3(CFH) c.620-139G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 196648924 . G . . NT END=196654193;NT GT ./. 1 196654368 . G . . NT END=196658549;NT GT ./. 1 196658745 . G . . NT END=196659192;NT GT ./. 1 196659370 . G . . NT END=196661505;NT GT ./. 1 196661525 . A . . NT END=196669955;NT GT ./. 1 196669783 rs550520235 C CA 10 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7871,CA/0.2129;DB;DBA=NA;PAF=C/0.7871,CA/0.2129;NP=8;PC=0.007;Gene=CFH/NM_001014975.2/0;CC=c.1337-650_1337-649insA;VC=Intron;Gene=CFH/NM_000186.3/1;CC=c.1336+10429_1336+10430insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,G,CA,D:18:18:4:1:12,1,4,1:296,10,116,22:0.00,0.09,9.60,1.14:0.00,0.09,9.60,1.14:0.00,0.00,0.00,0.00:0.00,0.00,0.73,0.00:0.00,0.00,0.73,0.00:0.00,0.00,0.00,0.00:60,30,60,60:40.2,234.0,48.5,170.0:0,0,0,0:0,0,0,0:68,49,38,10:66,92,110,139:43,0,5,0:-,NM_000186.3(CFH) c.1336+10414_1336+10415insA:-,NOT_FOUND:-,NOT_FOUND 1 196669974 . C . . NT END=196682864;NT GT ./. 1 196683048 . G . . NT END=196684722;NT GT ./. 1 196684900 . G . . NT END=196694250;NT GT ./. 1 196694428 . G . . NT END=196695599;NT GT ./. 1 196695783 . G . . NT END=196695890;NT GT ./. 1 196696071 . G . . NT END=196697475;NT GT ./. 1 196697653 . G . . NT END=196705953;NT GT ./. 1 196706137 . G . . NT END=196706604;NT GT ./. 1 196706791 . G . . NT END=196709748;NT GT ./. 1 196709923 . G . . NT END=196711004;NT GT ./. 1 196711182 . G . . NT END=196712581;NT GT ./. 1 196712759 . G . . NT END=196714946;NT GT ./. 1 196715130 . G . . NT END=196716240;NT GT ./. 1 196716444 . A . . NT END=196744016;NT GT ./. 1 196744075 . G . . NT END=196748291;NT GT ./. 1 196748487 . G . . NT END=196748926;NT GT ./. 1 196749104 . G . . NT END=196757345;NT GT ./. 1 196757529 . G . . NT END=196757874;NT GT ./. 1 196759153 . C . . NT END=196759174;NT GT ./. 1 196759358 . G . . NT END=196762446;NT GT ./. 1 196762644 . G . . NT END=196788974;NT GT ./. 1 196789033 . G . . NT END=196794606;NT GT ./. 1 196794802 . G . . NT END=196795958;NT GT ./. 1 196796136 . G . . NT END=196797199;NT GT ./. 1 196797377 . G . . NT END=196799629;NT GT ./. 1 196799813 . G . . NT END=196800926;NT GT ./. 1 196801130 . A . . NT END=196857280;NT GT ./. 1 196857339 . G . . NT END=196871547;NT GT ./. 1 196871746 . G . . NT END=196874237;NT GT ./. 1 196874356 rs10801578 G T 190 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.005591,T/0.9944;NP=3464;PC=0.450;Gene=CFHR4/NM_001201550.2/0;CC=c.375G>T;ProtCh=p.E125D;VC=Missense;Gene=CFHR4/NM_001201551.1/1;CC=c.372G>T;ProtCh=p.E124D;VC=Missense;Gene=CFHR4/NM_006684.4/0;CC=c.256+2611G>T;VC=Intron;DM=CFHR4/Sushi;DM=CFHR4/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:T:50:37:0:0:50:1657:189.50:104.71:84.79:1.00:1.00:1.00:60:38.6:0:0:68:73:39:NM_001201551.1(CFHR4) c.372G>T (p.Glu124Asp),NM_001201551.1(CFHR4) c.372G>T (p.Glu124Asp):0.99,0.99:NOT_FOUND,NOT_FOUND 1 196874421 . G . . NT END=196875990;NT GT ./. 1 196876168 . G . . NT END=196876445;NT GT ./. 1 196876458 rs7417769 A G 137 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.4109,G/0.5891;Gene=CFHR4/NM_001201550.2/0;CC=c.629A>G;ProtCh=p.N210S;VC=Missense;Gene=CFHR4/NM_001201551.1/1;CC=c.626A>G;ProtCh=p.N209S;VC=Missense;Gene=CFHR4/NM_006684.4/0;CC=c.256+4713A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:31:0:0:37:1197:137.27:92.63:44.65:1.00:1.00:1.00:60:38.4:0:0:54:87:30:NM_001201551.1(CFHR4) c.626A>G (p.Asn209Ser),NM_001201551.1(CFHR4) c.626A>G (p.Asn209Ser):0.63,0.63:NOT_FOUND,NOT_FOUND 1 196876629 . G . . NT END=196879410;NT GT ./. 1 196879609 . G . . NT END=196881869;NT GT ./. 1 196882053 . G . . NT END=196883624;NT GT ./. 1 196883802 . G . . NT END=196884085;NT GT ./. 1 196883940 rs149571115 TA T 7 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=196;PC=0.001;Gene=CFHR4/NM_001201550.2/0;CC=c.1358-132delA;VC=Intron;Gene=CFHR4/NM_001201551.1/1;CC=c.1355-132delA;VC=Intron;Gene=CFHR4/NM_006684.4/0;CC=c.617-132delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,TA,I,T:38:26:3:5:1,33,1,3:13,998,75,129:0.02,0.00,0.93,6.83:-0.20,0.00,-0.20,7.28:0.22,0.00,1.13,-0.45:0.00,0.00,0.00,0.36:0.00,0.00,0.00,0.72:0.00,0.00,0.00,0.61:45,60,52,43:95.0,14.5,144.0,3.3:0,0,2,2:0,0,0,0:3,56,81,37:148,94,70,114:0,38,8,16:-,NM_001201551.1(CFHR4) c.1354+140delA:-,NOT_FOUND:-,NOT_FOUND 1 196884269 . G . . NT END=196887339;NT GT ./. 1 196887537 . G . . NT END=196913010;NT GT ./. 1 196913069 . G . . NT END=196918584;NT GT ./. 1 196918780 . G . . NT END=196919981;NT GT ./. 1 196920159 . G . . NT END=196927020;NT GT ./. 1 196927185 rs41257904 G T 37 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.9966,T/0.003395;NP=49;Gene=CFHR2/NM_001312672.1/0;CC=c.223G>T;ProtCh=p.E75*;VC=Nonsense;Gene=CFHR2/NM_005666.3/1;CC=c.595G>T;ProtCh=p.E199*;VC=Nonsense;DM=CFHR2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:61:25:0:0:46,15:1535,450:0.00,37.39:0.00,3.06:0.00,34.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,43.7:0,0:0,0:87,89:60,62:27,31:-,NM_005666.2(CFHR2) c.595G>T (p.Glu199*):-,0.01:-,0.006305 1 196927204 . G . . NT END=196928010;NT GT ./. 1 196928211 . A . . NT END=196946794;NT GT ./. 1 196946853 . G . . NT END=196952014;NT GT ./. 1 196952210 . G . . NT END=196953090;NT GT ./. 1 196953268 . G . . NT END=196963209;NT GT ./. 1 196962982 rs7537588 A G 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.01857,G/0.9814;PC=0.012;Gene=CFHR5/NM_030787.3/1;CC=c.431-228A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:263:30.11:30.11:0.00:1.00:1.00:0.00:60:74.0:0:0:54:95:16:NM_030787.3(CFHR5) c.431-228A>G,NM_030787.3(CFHR5) c.431-228A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 196963006 rs10922152 T A 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.722,A/0.278;PC=0.007;Gene=CFHR5/NM_030787.3/1;CC=c.431-204T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:239:27.67:27.67:0.00:1.00:1.00:0.00:60:73.6:0:0:65:84:14:NM_030787.3(CFHR5) c.431-204T>A,NM_030787.3(CFHR5) c.431-204T>A:0.32,0.32:NOT_FOUND,NOT_FOUND 1 196963387 . G . . NT END=196964846;NT GT ./. 1 196965030 . G . . NT END=196965151;NT GT ./. 1 196965332 . G . . NT END=196967257;NT GT ./. 1 196967435 . G . . NT END=196971611;NT GT ./. 1 196971795 . G . . NT END=196973790;NT GT ./. 1 196973974 . G . . NT END=196977616;NT GT ./. 1 196977814 . A . . NT END=197008507;NT GT ./. 1 197008365 rs698859 C T 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7716,T/0.2284;PC=0.093;Gene=F13B/NM_001994.2/1;CC=c.*143G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:428:49.00:49.00:0.00:1.00:1.00:0.00:60:32.9:0:0:46:104:39:NM_001994.2(F13B) c.*143G>A,NM_001994.2(F13B) c.*143G>A:0.26,0.26:NOT_FOUND,NOT_FOUND 1 197008542 . C . . NT END=197009651;NT GT ./. 1 197009631 . C CA 9 idl,rn VT=INS;SST=Single;DP=39;NP=72;Gene=F13B/NM_001994.2/1;CC=c.1952+20dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C,CA,D:37:37:5:4:2,28,4,3:28,851,153,130:0.70,0.00,8.75,7.02:0.80,0.00,7.51,4.61:-0.10,0.00,1.23,2.41:0.00,0.00,0.59,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.59,0.00:60,60,60,60:25.0,9.2,18.2,2.3:0,0,1,1:0,0,0,0:142,58,91,24:8,92,60,112:6,32,23,13:-,NM_001994.2(F13B) c.1952+20_1952+21insT:-,NOT_FOUND:-,NOT_FOUND 1 197009866 . C . . NT END=197019826;NT GT ./. 1 197020010 . C . . NT END=197021763;NT GT ./. 1 197020319 rs17549360 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7863,A/0.2137;Gene=F13B/NM_001994.2/1;CC=c.1556-310C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:49.8:0:0:128:22:13:NM_001994.2(F13B) c.1556-310C>T,NM_001994.2(F13B) c.1556-310C>T:0.24,0.24:NOT_FOUND,NOT_FOUND 1 197021965 . C . . NT END=197024844;NT GT ./. 1 197022093 rs61129265 TCTCA T 54 idl,nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=901;PC=0.002;Gene=F13B/NM_001994.2/1;CC=c.1355-133_1355-130delTGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:0:0:20:15:636:54.18:0.00:54.18:1.00:0.00:1.00:70:5.3:5:0:109:41:24:NM_001994.2(F13B) c.1355-133_1355-130delTGAG,NM_001994.2(F13B) c.1355-133_1355-130delTGAG:0.8,0.8:NOT_FOUND,NOT_FOUND 1 197022104 . T C 32 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;Gene=F13B/NM_001994.2/1;CC=c.1355-140A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:10,10:337,325:32.45,0.00:0.00,0.00:32.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:70,60:0.0,8.0:10,10:0,0:112,116:37,33:34,20:NM_001994.2(F13B) c.1355-140A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 197024643 rs1794003 G A 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.24,A/0.76;Gene=F13B/NM_001994.2/1;CC=c.1354+202C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:302:34.49:34.49:0.00:1.00:1.00:0.00:60:35.2:0:0:45:105:20:NM_001994.2(F13B) c.1354+202C>T,NM_001994.2(F13B) c.1354+202C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 1 197025028 . C . . NT END=197026142;NT GT ./. 1 197026329 . C . . NT END=197026415;NT GT ./. 1 197026596 . C . . NT END=197029495;NT GT ./. 1 197026672 rs1759009 A G 162 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.1318,G/0.8682;Gene=F13B/NM_001994.2/1;CC=c.806-77T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:G:44:13:0:0:44:1414:162.37:30.28:132.09:1.00:1.00:1.00:60:38.5:0:0:111:38:24:NM_001994.2(F13B) c.806-77T>C,NM_001994.2(F13B) c.806-77T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 1 197026846 rs17549312 T A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7867,A/0.2133;Gene=F13B/NM_001994.2/1;CC=c.806-251A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:150:17.38:0.00:17.38:1.00:0.00:1.00:60:71.2:0:0:64:87:52:NM_001994.2(F13B) c.806-251A>T,NM_001994.2(F13B) c.806-251A>T:0.24,0.24:NOT_FOUND,NOT_FOUND 1 197026895 rs1759008 A C 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2069,C/0.7931;PC=0.001;Gene=F13B/NM_001994.2/1;CC=c.806-300T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:179:20.29:0.00:20.29:1.00:0.00:1.00:60:70.6:0:0:50:101:17:NM_001994.2(F13B) c.806-300T>G,NM_001994.2(F13B) c.806-300T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 197029673 . C . . NT END=197030028;NT GT ./. 1 197030201 rs5997 T C 143 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.2163,C/0.7837;PC=0.122;Gene=F13B/NM_001994.2/1;CC=c.456A>G;ProtCh=p.T152=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A,C:45:11:0:0:1,44:11,1229:0.24,142.93:0.00,28.65:0.24,114.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,36.6:0,0:0,0:50,97:100,53:0,33:NM_001994.2(F13B) c.456A>G (p.(=)),NM_001994.2(F13B) c.456A>G (p.(=)):0.82,0.82:0.756152,0.756152 1 197030206 . C . . NT END=197030913;NT GT ./. 1 197031021 rs6003 C T 224 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=in-clinvar;PAF=C/0.2382,T/0.7618;PC=0.001;Gene=F13B/NM_001994.2/1;CC=c.344G>A;ProtCh=p.R115H;VC=Missense;DM=F13B/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:T:59:41:0:0:59:1964:224.46:115.71:108.75:1.00:1.00:1.00:60:36.6:0:0:87:61:31:NM_001994.2(F13B) c.344G>A (p.Arg115His),NM_001994.2(F13B) c.344G>A (p.Arg115His):0.81,0.81:0.738505,0.738505 1 197031100 . C . . NT END=197031986;NT GT ./. 1 197032188 . C . . NT END=197036289;NT GT ./. 1 197032345 rs5996 C G 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=F13B/NM_001994.2/1;CC=c.65-158G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:273:32.02:0.00:32.02:1.00:0.00:1.00:60:46.1:0:0:102:48:38:NM_001994.2(F13B) c.65-158G>C,NM_001994.2(F13B) c.65-158G>C:0.25,0.25:NOT_FOUND,NOT_FOUND 1 197036354 . C . . NT END=197053453;NT GT ./. 1 197053373 rs12677 G A 35 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.2177,A/0.7823;PC=0.002;Gene=ASPM/NM_001206846.1/0;CC=c.*81C>T;VC=3UTR;Gene=ASPM/NM_018136.4/1;CC=c.*81C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:308:35.09:33.10:1.99:1.00:1.00:1.00:60:36.7:0:0:21:130:12:NM_018136.4(ASPM) c.*81C>T,NM_018136.4(ASPM) c.*81C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 197053557 . C . . NT END=197055932;NT GT ./. 1 197053561 rs200839523 T TA 28 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=4;NP=63;PC=0.161;Gene=ASPM/NM_001206846.1/0;CC=c.5577-6dupT;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.10332-6dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:T,TA,D:19:13:11:3:7,9,3:232,347,98:0.00,28.38,8.23:0.00,9.77,2.87:0.00,18.61,5.36:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:1.6,22.6,30.3:0,2,0:0,0,0:103,101,124:39,49,27:18,8,6:-,NM_018136.4(ASPM) c.10332-6_10332-5insT:-,NOT_FOUND:-,NOT_FOUND 1 197055782 rs10733087 T C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2179,C/0.7821;PC=0.001;Gene=ASPM/NM_001206846.1/0;CC=c.5576+151A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.10331+151A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:34.0:0:0:34:115:15:NM_018136.4(ASPM) c.10331+151A>G,NM_018136.4(ASPM) c.10331+151A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 197055925 rs10754213 T C 115 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.2173,C/0.7827;PC=0.004;Gene=ASPM/NM_001206846.1/0;CC=c.5576+8A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.10331+8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:27:0:0:30:1010:115.30:91.49:23.81:1.00:1.00:1.00:60:46.2:0:0:53:97:15:NM_018136.4(ASPM) c.10331+8A>G,NM_018136.4(ASPM) c.10331+8A>G:0.82,0.82:0.755118,0.755118 1 197056103 . C . . NT END=197057385;NT GT ./. 1 197057563 . C . . NT END=197059059;NT GT ./. 1 197059215 . C . . NT END=197059325;NT GT ./. 1 197059519 . C . . NT END=197059979;NT GT ./. 1 197059864 rs72736482 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9561,T/0.04393;Gene=ASPM/NM_001206846.1/0;CC=c.4881+116G>A;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.9636+116G>A;VC=Intron;DM=ASPM/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:13:13:0:0:8,5:256,166:0.00,15.22:0.00,15.22:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:87.4,134.0:0,0:0,0:50,57:100,93:19,25:-,NM_018136.4(ASPM) c.9636+116G>A:-,0.05:-,NOT_FOUND 1 197059878 rs4915315 G A 46 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.231,A/0.769;Gene=ASPM/NM_001206846.1/0;CC=c.4881+102C>T;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.9636+102C>T;VC=Intron;DM=ASPM/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:397:45.83:43.84:1.99:1.00:1.00:1.00:60:110.8:0:0:58:93:15:NM_018136.4(ASPM) c.9636+102C>T,NM_018136.4(ASPM) c.9636+102C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 197059892 rs10754214 A G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2428,G/0.7572;Gene=ASPM/NM_001206846.1/0;CC=c.4881+88T>C;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.9636+88T>C;VC=Intron;DM=ASPM/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:422:48.36:46.33:2.04:1.00:1.00:1.00:60:114.2:0:0:68:82:17:NM_018136.4(ASPM) c.9636+88T>C,NM_018136.4(ASPM) c.9636+88T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 197059928 rs4915316 A G 71 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.2436,G/0.7564;Gene=ASPM/NM_001206846.1/0;CC=c.4881+52T>C;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.9636+52T>C;VC=Intron;DM=ASPM/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:624:71.43:61.59:9.84:1.00:1.00:1.00:60:86.6:0:0:72:78:49:NM_018136.4(ASPM) c.9636+52T>C,NM_018136.4(ASPM) c.9636+52T>C:0.8,0.8:0.74529,0.74529 1 197060172 . C . . NT END=197061036;NT GT ./. 1 197060783 rs955927 A T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7863,T/0.2137;PC=0.909;Gene=ASPM/NM_001206846.1/0;CC=c.4689+254T>A;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.9444+254T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:31.0:0:0:72:78:19:NM_018136.4(ASPM) c.9444+254T>A,NM_018136.4(ASPM) c.9444+254T>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 197061187 . C . . NT END=197062181;NT GT ./. 1 197062392 . C . . NT END=197063213;NT GT ./. 1 197063311 . C . . NT END=197065127;NT GT ./. 1 197063352 rs41304071 C T 87 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7857,T/0.2143;PC=0.038;Gene=ASPM/NM_001206846.1/0;CC=c.4233-42G>A;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.8988-42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:12:0:0:24:757:87.10:25.43:61.66:1.00:1.00:1.00:60:34.3:0:0:113:36:20:NM_018136.4(ASPM) c.8988-42G>A,NM_018136.4(ASPM) c.8988-42G>A:0.25,0.25:0.313246,0.313246 1 197065295 . C . . NT END=197069560;NT GT ./. 1 197070442 rs3762271 G T 206 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=in-clinvar;PAF=G/0.7857,A/.,T/0.2143;PC=0.237;Gene=ASPM/NM_001206846.1/0;CC=c.4066-5148C>A;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.7939C>A;ProtCh=p.L2647I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:T:58:31:0:0:58:1791:206.49:87.29:119.20:1.00:1.00:1.00:60:38.3:0:0:82:62:31:NM_018136.4(ASPM) c.7939C>A (p.Leu2647Ile),NM_018136.4(ASPM) c.7939C>A (p.Leu2647Ile):0.25,0.25:0.322896,0.322896 1 197070697 rs41310927 T C 187 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=in-clinvar;PAF=T/0.7857,C/0.2143;PC=1.000;Gene=ASPM/NM_001206846.1/0;CC=c.4066-5403A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.7684A>G;ProtCh=p.S2562G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:C:50:35:0:0:50:1632:187.02:104.52:82.50:1.00:1.00:1.00:60:76.6:0:0:65:85:37:NM_018136.4(ASPM) c.7684A>G (p.Ser2562Gly),NM_018136.4(ASPM) c.7684A>G (p.Ser2562Gly):0.25,0.25:0.321077,0.321077 1 197070707 rs41308365 G A 193 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=52;DB;DBA=in-clinvar;PAF=G/0.7857,A/0.2143,T/.;Gene=ASPM/NM_001206846.1/0;CC=c.4066-5413C>T;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.7674C>T;ProtCh=p.I2558=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:A:52:35:0:0:52:1682:192.91:105.44:87.47:1.00:1.00:1.00:60:74.8:0:0:78:72:39:NM_018136.4(ASPM) c.7674C>T (p.(=)),NM_018136.4(ASPM) c.7674C>T (p.(=)):0.25,0.25:0.32172,0.32172 1 197070815 rs1412640 T C 224 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=58;DB;DBA=in-clinvar;PAF=T/0.1841,A/.,C/0.8159;Gene=ASPM/NM_001206846.1/0;CC=c.4066-5521A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.7566A>G;ProtCh=p.L2522=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C:58:42:0:0:58:1959:223.51:129.32:94.20:1.00:1.00:1.00:60:68.8:0:0:80:66:36:NM_018136.4(ASPM) c.7566A>G (p.(=)),NM_018136.4(ASPM) c.7566A>G (p.(=)):0.85,0.85:0.786923,0.786923 1 197070901 rs964201 A G 260 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=68;DB;DBA=in-clinvar;PAF=A/0.002596,G/0.9974;NP=3479;PC=1.000;Gene=ASPM/NM_001206846.1/0;CC=c.4066-5607T>C;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.7480T>C;ProtCh=p.Y2494H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:47:0:0:68:2281:260.46:143.79:116.67:1.00:1.00:1.00:60:52.3:0:0:70:76:35:NM_018136.4(ASPM) c.7480T>C (p.Tyr2494His),NM_018136.4(ASPM) c.7480T>C (p.Tyr2494His):1,1:0.995693,0.995693 1 197072420 rs41310925 T C 334 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=90;DB;DBA=in-clinvar;PAF=T/0.7869,C/0.2131;Gene=ASPM/NM_001206846.1/0;CC=c.4066-7126A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.5961A>G;ProtCh=p.Q1987=;VC=Silent;DM=ASPM/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:90:66:0:0:90:2915:334.26:192.76:141.50:1.00:1.00:1.00:60:45.1:0:0:70:78:41:NM_018136.4(ASPM) c.5961A>G (p.(=)),NM_018136.4(ASPM) c.5961A>G (p.(=)):0.24,0.24:0.321335,0.321335 1 197073932 rs2878749 T C 191 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=in-clinvar;PAF=T/0.7855,C/0.2145;Gene=ASPM/NM_001206846.1/0;CC=c.4066-8638A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.4449A>G;ProtCh=p.K1483=;VC=Silent;DM=ASPM/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:138:C,T:53:34:0:0:52,1:1683,10:191.30,0.00:107.95,0.00:83.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,230.0:0,0:0,0:75,78:73,71:38,0:NM_018136.4(ASPM) c.4449A>G (p.(=)),NM_018136.4(ASPM) c.4449A>G (p.(=)):0.25,0.25:0.322374,0.322374 1 197074316 . C . . NT END=197086918;NT GT ./. 1 197087114 . C . . NT END=197091044;NT GT ./. 1 197091174 . C . . NT END=197091288;NT GT ./. 1 197091432 . C . . NT END=197091517;NT GT ./. 1 197091537 rs4915337 A T 190 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=in-clinvar;PAF=A/0.2175,T/0.7825;PC=0.046;Gene=ASPM/NM_001206846.1/0;CC=c.3579T>A;ProtCh=p.S1193=;VC=Silent;Gene=ASPM/NM_018136.4/1;CC=c.3579T>A;ProtCh=p.S1193=;VC=Silent;DM=ASPM/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:T:51:32:0:0:51:1653:189.54:92.47:97.07:1.00:1.00:1.00:60:42.9:0:0:53:97:37:NM_018136.4(ASPM) c.3579T>A (p.(=)),NM_018136.4(ASPM) c.3579T>A (p.(=)):0.82,0.82:0.754729,0.754729 1 197091726 . C . . NT END=197093239;NT GT ./. 1 197091808 rs61819088 T C 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7871,C/0.2129;Gene=ASPM/NM_001206846.1/0;CC=c.3391-83A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.3391-83A>G;VC=Intron;DM=ASPM/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:4:0:0:21:693:79.31:9.89:69.42:1.00:1.00:1.00:60:38.7:0:0:92:59:26:NM_018136.4(ASPM) c.3391-83A>G,NM_018136.4(ASPM) c.3391-83A>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 197093098 rs6685259 A T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1016,T/0.8984;Gene=ASPM/NM_001206846.1/0;CC=c.3390+142T>A;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.3390+142T>A;VC=Intron;DM=ASPM/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:271:31.33:31.33:0.00:1.00:1.00:0.00:60:43.4:0:0:45:105:30:NM_018136.4(ASPM) c.3390+142T>A,NM_018136.4(ASPM) c.3390+142T>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 197093462 . C . . NT END=197093999;NT GT ./. 1 197093832 rs71131742 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2448,C/0.7546;DB;DBA=NA;PAF=T/0.2448,TAC/0.000599;DB;DBA=NA;PAF=T/0.2448,TAC/0.000599;PC=0.068;Gene=ASPM/NM_001206846.1/0;CC=c.3168+168A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.3168+168A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:170:19.38:15.31:4.08:1.00:1.00:1.00:60:36.2:0:0:51:99:3:NM_018136.4(ASPM) c.3168+168A>G,NM_018136.4(ASPM) c.3168+168A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 197094086 . C . . NT END=197094175;NT GT ./. 1 197094322 . C . . NT END=197097619;NT GT ./. 1 197097473 rs80274477 G GA 10 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4413,GA/0.5587,GAA/.;DB;DBA=NA;PAF=NA;NP=57;PC=0.002;Gene=ASPM/NM_001206846.1/0;CC=c.2936+146dupT;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2936+146dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GA:3:6:6:0:3:194:10.23:10.23:0.00:0.73:0.73:0.00:60:76.7:3:0:39:111:21:NM_018136.4(ASPM) c.2936+146_2936+147insT,NM_018136.4(ASPM) c.2936+146_2936+147insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 197097796 . C . . NT END=197098316;NT GT ./. 1 197097892 . AAATAAT A 13 nt VT=DEL;SST=Single;DP=5;PC=0.010;Gene=ASPM/NM_001206846.1/0;CC=c.2761-103_2761-98delATTATT;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2761-103_2761-98delATTATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:AAATAAT,A:5:1:0:4:1,4:27,125:0.00,13.32:0.00,1.64:0.00,11.68:0.00,0.96:0.00,0.87:0.00,0.96:60,70:73.0,0.0:1,0:0,0:142,71:7,79:0,32:-,NM_018136.4(ASPM) c.2761-103_2761-98delATTATT:-,NOT_FOUND:-,NOT_FOUND 1 197098143 rs6695300 G C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.127,C/0.873;Gene=ASPM/NM_001206846.1/0;CC=c.2760+174C>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2760+174C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:34.6:0:0:55:95:19:NM_018136.4(ASPM) c.2760+174C>G,NM_018136.4(ASPM) c.2760+174C>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 197098448 . C . . NT END=197099044;NT GT ./. 1 197099187 . C . . NT END=197101414;NT GT ./. 1 197101105 rs10922169 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2161,C/0.7839;Gene=ASPM/NM_001206846.1/0;CC=c.2487+310A>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2487+310A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:34.5:0:0:29:121:8:NM_018136.4(ASPM) c.2487+310A>G,NM_018136.4(ASPM) c.2487+310A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 197101303 rs3737110 C A 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7869,A/0.2131;Gene=ASPM/NM_001206846.1/0;CC=c.2487+112G>T;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2487+112G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:364:41.64:41.64:0.00:1.00:1.00:0.00:60:45.7:0:0:26:125:14:NM_018136.4(ASPM) c.2487+112G>T,NM_018136.4(ASPM) c.2487+112G>T:0.24,0.24:NOT_FOUND,NOT_FOUND 1 197101483 . C . . NT END=197102479;NT GT ./. 1 197102726 . C . . NT END=197104225;NT GT ./. 1 197102839 rs4915345 A C 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1841,C/0.8159;Gene=ASPM/NM_001206846.1/0;CC=c.2174-114T>G;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2174-114T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:3:0:1:12:392:44.92:5.77:39.16:1.00:1.00:1.00:60:39.2:0:0:118:33:22:NM_018136.4(ASPM) c.2174-114T>G,NM_018136.4(ASPM) c.2174-114T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 197104149 rs398089788 TA T 70 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=TA/0.244,T/0.756;DB;DBA=NA;PAF=TA/0.244,T/0.756;DB;DBA=NA;PAF=TA/0.244,T/0.756;NP=1257;Gene=ASPM/NM_001206846.1/0;CC=c.2173+76delT;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2173+76delT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:TA,T:21:20:0:20:1,20:34,621:0.00,69.89:0.00,57.30:0.00,12.59:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,13.8:1,0:0,0:5,69:130,81:0,40:NM_018136.4(ASPM) c.2173+76delT,NM_018136.4(ASPM) c.2173+76delT:0.8,0.8:NOT_FOUND,NOT_FOUND 1 197104373 . C . . NT END=197108896;NT GT ./. 1 197108427 rs1332662 A G 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2286,G/0.7714;PC=1.000;Gene=ASPM/NM_001206846.1/0;CC=c.2026+470T>C;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.2026+470T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:6:0:0:15:481:55.25:19.13:36.11:1.00:1.00:1.00:60:42.5:0:0:107:43:21:NM_018136.4(ASPM) c.2026+470T>C,NM_018136.4(ASPM) c.2026+470T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 197109002 . C . . NT END=197111460;NT GT ./. 1 197109042 rs1332663 C T 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2175,T/0.7825;Gene=ASPM/NM_001206846.1/0;CC=c.1922-41G>A;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.1922-41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:4:0:0:19:608:69.86:8.64:61.22:1.00:1.00:1.00:60:39.8:0:0:118:33:19:NM_018136.4(ASPM) c.1922-41G>A,NM_018136.4(ASPM) c.1922-41G>A:0.82,0.82:0.755504,0.755504 1 197112533 rs6677082 G A 231 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=in-clinvar;PAF=G/0.2444,A/0.7556;Gene=ASPM/NM_001206846.1/0;CC=c.849C>T;ProtCh=p.S283=;VC=Silent;Gene=ASPM/NM_018136.4/1;CC=c.849C>T;ProtCh=p.S283=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:A:61:34:0:0:61:2016:230.64:100.39:130.25:1.00:1.00:1.00:60:39.2:0:0:85:65:26:NM_018136.4(ASPM) c.849C>T (p.(=)),NM_018136.4(ASPM) c.849C>T (p.(=)):0.8,0.8:0.730775,0.730775 1 197112941 . C . . NT END=197113086;NT GT ./. 1 197113073 rs1571964 G A 181 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=in-clinvar;PAF=G/0.2444,A/0.7556;Gene=ASPM/NM_001206846.1/0;CC=c.441+14C>T;VC=Intron;Gene=ASPM/NM_018136.4/1;CC=c.441+14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:A:47:34:0:0:47:1581:180.51:103.06:77.45:1.00:1.00:1.00:60:41.4:0:0:63:84:32:NM_018136.4(ASPM) c.441+14C>T,NM_018136.4(ASPM) c.441+14C>T:0.8,0.8:0.730236,0.730236 1 197113231 . C . . NT END=197115270;NT GT ./. 1 197115568 . g . . NT END=197128488;NT GT ./. 1 197129145 . C . . NT END=197141289;NT GT ./. 1 197141243 rs6428389 A C 72 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.3079,C/0.6921;Gene=ZBTB41/NM_194314.2/1;CC=c.2074+47T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,C:21:20:0:0:1,20:32,646:0.00,72.35:0.00,64.89:0.00,7.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,38.2:1,0:0,0:31,36:120,112:0,22:NM_194314.2(ZBTB41) c.2074+47T>G,NM_194314.2(ZBTB41) c.2074+47T>G:0.75,0.75:0.744876,0.744876 1 197141379 . C . . NT END=197144139;NT GT ./. 1 197144246 . C . . NT END=197145693;NT GT ./. 1 197144383 rs10801593 T G 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2498,G/0.7502;PC=0.006;Gene=ZBTB41/NM_194314.2/1;CC=c.1880-138A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:0:0:0:14:413:47.92:0.00:47.92:1.00:0.00:1.00:60:41.5:0:0:86:64:12:NM_194314.2(ZBTB41) c.1880-138A>C,NM_194314.2(ZBTB41) c.1880-138A>C:0.79,0.79:NOT_FOUND,NOT_FOUND 1 197145801 . C . . NT END=197147546;NT GT ./. 1 197145999 rs61819117 C A 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7857,A/0.2143;PC=0.022;Gene=ZBTB41/NM_194314.2/1;CC=c.1773-199G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:228:26.14:0.00:26.14:1.00:0.00:1.00:60:34.1:0:0:123:27:10:NM_194314.2(ZBTB41) c.1773-199G>T,NM_194314.2(ZBTB41) c.1773-199G>T:0.25,0.25:NOT_FOUND,NOT_FOUND 1 197147471 rs61819118 A C 78 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.7857,C/0.2143;Gene=ZBTB41/NM_194314.2/1;CC=c.1772+76T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:21:0:0:22:673:77.61:74.60:3.02:1.00:1.00:1.00:70:34.8:0:0:59:92:25:NM_194314.2(ZBTB41) c.1772+76T>G,NM_194314.2(ZBTB41) c.1772+76T>G:0.25,0.25:NOT_FOUND,NOT_FOUND 1 197147643 . C . . NT END=197150117;NT GT ./. 1 197147800 rs61819119 T A 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7859,A/0.2141;Gene=ZBTB41/NM_194314.2/1;CC=c.1677-158A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:302:35.32:0.00:35.32:1.00:0.00:1.00:60:41.2:0:0:121:30:24:NM_194314.2(ZBTB41) c.1677-158A>T,NM_194314.2(ZBTB41) c.1677-158A>T:0.25,0.25:NOT_FOUND,NOT_FOUND 1 197150248 . C . . NT END=197157421;NT GT ./. 1 197150256 . GA G 17 rn VT=DEL;SST=Single;DP=55;NP=80;PC=0.006;Gene=ZBTB41/NM_194314.2/1;CC=c.1547-10delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,GA,I,G:55:19:2:8:1,44,2,8:11,1314,62,230:-0.14,0.00,3.57,17.14:-0.09,0.00,-0.19,4.75:-0.05,0.00,3.76,12.39:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:60,60,60,60:67.0,17.9,12.5,16.8:0,0,0,0:0,0,0,0:79,91,38,109:71,59,112,42:0,40,18,21:-,NM_194314.2(ZBTB41) c.1547-10delT:-,NOT_FOUND:-,NOT_FOUND 1 197157570 . C . . NT END=197159891;NT GT ./. 1 197159962 . C . . NT END=197160821;NT GT ./. 1 197161030 . C . . NT END=197168483;NT GT ./. 1 197161212 rs4915378 T G 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2256,G/0.7744;Gene=ZBTB41/NM_194314.2/1;CC=c.1121-183A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:286:32.89:0.00:32.89:1.00:0.00:1.00:60:31.8:0:0:92:59:30:NM_194314.2(ZBTB41) c.1121-183A>C,NM_194314.2(ZBTB41) c.1121-183A>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 197169604 . T . . NT END=197237542;NT GT ./. 1 197237613 . G . . NT END=197273500;NT GT ./. 1 197273544 . G . . NT END=197297551;NT GT ./. 1 197280828 rs200225273 AGTGT A 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=9;PC=0.011;Gene=CRB1/NM_001257965.1/0;CC=c.-138+7330_-138+7333delGTGT;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.71-16679_71-16676delGTGT;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.71-16679_71-16676delGTGT;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.71-16679_71-16676delGTGT;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:AGTGT,A:5:5:0:4:2,3:43,117:0.00,8.95:0.00,4.73:0.00,4.21:0.00,0.73:0.00,0.96:0.00,0.79:60,60:10.5,63.7:0,1:0,0:130,66:20,84:4,15:-,NM_201253.2(CRB1) c.71-16723_71-16720delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 197280956 rs183414982 G A 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9974,A/0.002596;NP=18;PC=0.006;Gene=CRB1/NM_001257965.1/0;CC=c.-138+7413G>A;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.71-16596G>A;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.71-16596G>A;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.71-16596G>A;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:6:1:0:0:3,3:81,98:7.72,0.00:2.07,0.00:5.65,0.00:0.73,0.00:0.67,0.00:0.96,0.00:60,60:30.7,7.3:0,0:0,0:101,31:49,120:24,30:NM_201253.2(CRB1) c.71-16596G>A,-:0.0018,-:NOT_FOUND,- 1 197297408 rs550098 A G 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2622,G/0.7378;PC=0.002;Gene=CRB1/NM_001257965.1/0;CC=c.-137-144A>G;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.71-144A>G;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.71-144A>G;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.71-144A>G;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:351:40.34:40.34:0.00:1.00:1.00:0.00:60:65.3:0:0:32:101:25:NM_201253.2(CRB1) c.71-144A>G,NM_201253.2(CRB1) c.71-144A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 197297417 rs12042924 T C 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5166,C/0.4834;Gene=CRB1/NM_001257965.1/0;CC=c.-137-135T>C;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.71-135T>C;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.71-135T>C;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.71-135T>C;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:12:12:0:0:6,6:198,149:19.07,0.00:19.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:82.7,37.0:0,0:0,0:60,31:80,120:32,17:NM_201253.2(CRB1) c.71-135T>C,-:0.51,-:NOT_FOUND,- 1 197297540 rs12042179 A T 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=A/0.5968,T/0.4032;Gene=CRB1/NM_001257965.1/0;CC=c.-137-12A>T;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.71-12A>T;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.71-12A>T;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.71-12A>T;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:40:33:0:1:16,24:489,775:0.00,77.31:0.00,56.04:0.00,21.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,46.5:0,0:0,0:55,50:94,100:21,25:-,NM_201253.2(CRB1) c.71-12A>T:-,0.43:-,0.286572 1 197298134 . G . . NT END=197313410;NT GT ./. 1 197313607 . G . . NT END=197316469;NT GT ./. 1 197316435 rs1337167 T C 80 nt VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.1607,C/0.8393;Gene=CRB1/NM_001257965.1/0;CC=c.642-35T>C;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.653-9526T>C;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.849-35T>C;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.849-35T>C;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;DM=CRB1/EGF;DM=CRB1/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:39:0:0:25,18:803,617:79.53,0.00:51.85,0.00:27.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,13.8:0,0:0,0:39,42:112,108:14,30:NM_201253.2(CRB1) c.849-35T>C,-:0.8,-:0.830847,- 1 197316610 . G . . NT END=197325960;NT GT ./. 1 197325908 rs2786098 T G 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=CRB1/NM_001257965.1/0;CC=c.782-53T>G;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.653-53T>G;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.989-53T>G;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.989-53T>G;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;DM=CRB1/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:42:39:0:0:20,22:620,708:58.92,0.00:47.48,0.00:11.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.5,10.8:0,0:0,0:50,40:100,109:26,23:NM_201253.2(CRB1) c.989-53T>G,-:0.8,-:NOT_FOUND,- 1 197326144 . G . . NT END=197390151;NT GT ./. 1 197390368 rs3902057 A G 445 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.08027,G/0.9197;Gene=CRB1/NM_001257965.1/0;CC=c.1203A>G;ProtCh=p.L401=;VC=Silent;Gene=CRB1/NM_001193640.1/0;CC=c.1074A>G;ProtCh=p.L358=;VC=Silent;Gene=CRB1/NM_001257966.1/0;CC=c.1410A>G;ProtCh=p.L470=;VC=Silent;Gene=CRB1/NM_201253.2/1;CC=c.1410A>G;ProtCh=p.L470=;VC=Silent;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;DM=CRB1/EGF;DM=CRB1/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:118:89:0:0:1,117:13,3897:0.16,444.85:0.16,271.63:0.00,173.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:125.0,40.4:0,0:0,0:15,65:134,82:0,38:NM_201253.2(CRB1) c.=,NM_201253.2(CRB1) c.=:0.93,0.93:0.921036,0.921036 1 197391109 . G . . NT END=197396583;NT GT ./. 1 197397132 . G . . NT END=197398103;NT GT ./. 1 197398086 rs7534863 A G 65 nt VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.6416,G/0.3584;Gene=CRB1/NM_001257965.1/0;CC=c.2470-18A>G;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.2341-493A>G;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.2129-6644A>G;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.2677-493A>G;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;DM=CRB1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:30:0:0:21,20:668,675:0.00,64.69:0.00,38.41:0.00,26.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,37.5:0,0:0,0:77,85:70,64:34,25:-,NM_201253.2(CRB1) c.2677-493A>G:-,0.39:-,NOT_FOUND 1 197398239 . g . . NT END=197398578;NT GT ./. 1 197398745 . G . . NT END=197403835;NT GT ./. 1 197404743 . G . . NT END=197407676;NT GT ./. 1 197407439 rs2146485 C T 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.08007,T/0.9199;Gene=CRB1/NM_001257965.1/0;CC=c.3678-238C>T;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.3414-238C>T;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.2142-238C>T;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.3750-238C>T;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:427:49.36:49.36:0.00:1.00:1.00:0.00:60:58.0:0:0:58:92:35:NM_201253.2(CRB1) c.3750-238C>T,NM_201253.2(CRB1) c.3750-238C>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 197407806 . G . . NT END=197411295;NT GT ./. 1 197407942 rs980371 A G 71 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.08027,G/0.9197;PC=0.890;Gene=CRB1/NM_001257965.1/0;CC=c.3806+137A>G;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.3542+137A>G;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.2270+137A>G;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.3878+137A>G;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:1:0:0:19:624:71.46:3.68:67.78:1.00:1.00:1.00:60:43.9:0:0:127:24:19:NM_201253.2(CRB1) c.3878+137A>G,NM_201253.2(CRB1) c.3878+137A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 197411665 . G . . NT END=197446793;NT GT ./. 1 197414077 rs1923758 G A 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.08027,A/0.9197;Gene=CRB1/NM_001257965.1/0;CC=c.3933+2655G>A;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.3669+2655G>A;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.2397+2655G>A;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.4005+2655G>A;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;DM=CRB1/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:136:15.51:7.75:7.75:1.00:1.00:1.00:60:51.0:0:0:39:111:22:NM_201253.2(CRB1) c.4005+2655G>A,NM_201253.2(CRB1) c.4005+2655G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 197414097 rs1923759 G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6821,A/0.3179;Gene=CRB1/NM_001257965.1/0;CC=c.3933+2675G>A;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.3669+2675G>A;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.2397+2675G>A;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.4005+2675G>A;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;DM=CRB1/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:4:2:0:0:2,2:68,70:6.55,0.00:3.53,0.00:3.02,0.00:0.51,0.00:0.79,0.00:0.89,0.00:60,60:67.0,35.0:0,0:0,0:74,59:75,91:51,7:NM_201253.2(CRB1) c.4005+2675G>A,-:0.34,-:NOT_FOUND,- 1 197446702 rs1135810 G T 36 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6679,T/0.3321;PC=0.001;Gene=CRB1/NM_001257965.1/0;CC=c.3934-92G>T;VC=Intron;Gene=CRB1/NM_001193640.1/0;CC=c.3670-92G>T;VC=Intron;Gene=CRB1/NM_001257966.1/0;CC=c.2398-92G>T;VC=Intron;Gene=CRB1/NM_201253.2/1;CC=c.4006-92G>T;VC=Intron;Gene=CRB1/NR_047563.1/0;VC=NonCoding;Gene=CRB1/NR_047564.1/0;VC=NonCoding;DM=CRB1/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:24:24:0:0:11,13:342,371:0.00,36.08:0.00,34.79:0.00,1.30:0.00,1.00:0.00,1.00:0.00,0.96:60,60:0.0,38.9:0,0:0,0:74,67:76,84:48,40:-,NM_201253.2(CRB1) c.4006-92G>T:-,0.35:-,NOT_FOUND 1 197447010 . G . . NT END=197479589;NT GT ./. 1 197479378 rs1421389 C A 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.05671,A/0.9433;PC=0.880;Gene=DENND1B/NM_001195215.1/1;CC=c.*212G>T;VC=3UTR;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:297:33.99:33.99:0.00:1.00:1.00:0.00:60:40.6:0:0:33:117:24:NM_001195215.1(DENND1B) c.*212G>T,NM_001195215.1(DENND1B) c.*212G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 197480103 . C . . NT END=197480857;NT GT ./. 1 197480927 rs12142127 C T 213 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.7704,T/0.2296;PC=1.000;Gene=DENND1B/NM_001195215.1/1;CC=c.1746G>A;ProtCh=p.Q582=;VC=Silent;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:T:55:42:0:0:55:1864:212.60:119.56:93.04:1.00:1.00:1.00:60:43.7:0:0:68:76:31:NM_001195215.1(DENND1B) c.1746G>A (p.(=)),NM_001195215.1(DENND1B) c.1746G>A (p.(=)):0.24,0.24:0.279794,0.279794 1 197480986 rs10494755 C T 69 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.9591,T/0.04093;PC=0.998;Gene=DENND1B/NM_001195215.1/1;CC=c.1687G>A;ProtCh=p.G563S;VC=Missense;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:27:0:0:32,22:1031,748:0.00,69.46:0.00,28.07:0.00,41.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.6,55.6:0,0:0,0:66,72:84,79:36,36:-,NM_001195215.1(DENND1B) c.1687G>A (p.Gly563Ser):-,0.05:-,0.07904 1 197481075 . C . . NT END=197482000;NT GT ./. 1 197482084 . C . . NT END=197509093;NT GT ./. 1 197482167 rs2013617 C G 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.05451,G/0.9455;Gene=DENND1B/NM_001195215.1/1;CC=c.1516-84G>C;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:4:0:0:16:554:63.03:7.85:55.18:1.00:1.00:1.00:60:38.4:0:0:104:46:26:NM_001195215.1(DENND1B) c.1516-84G>C,NM_001195215.1(DENND1B) c.1516-84G>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 197508901 rs4915551 G A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3562,A/0.6438;Gene=DENND1B/NM_001195215.1/1;CC=c.1515+193C>T;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:192:22.06:22.06:0.00:1.00:1.00:0.00:60:32.0:0:0:37:113:22:NM_001195215.1(DENND1B) c.1515+193C>T,NM_001195215.1(DENND1B) c.1515+193C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 197509202 . C . . NT END=197510088;NT GT ./. 1 197510025 rs3902061 G T 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.05032,T/0.9497;PC=0.999;Gene=DENND1B/NM_001195215.1/1;CC=c.1407+64C>A;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:443:50.98:47.20:3.78:1.00:1.00:1.00:60:39.0:0:0:38:108:26:NM_001195215.1(DENND1B) c.1407+64C>A,NM_001195215.1(DENND1B) c.1407+64C>A:0.96,0.96:0.951358,0.951358 1 197510146 . C . . NT END=197515051;NT GT ./. 1 197510299 rs3850628 G A 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.0007987,A/0.9992;NP=2192;Gene=DENND1B/NM_001195215.1/1;CC=c.1351-154C>T;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:0:0:0:13:397:45.90:0.00:45.90:1.00:0.00:1.00:60:33.8:0:0:113:38:31:NM_001195215.1(DENND1B) c.1351-154C>T,NM_001195215.1(DENND1B) c.1351-154C>T:1,1:NOT_FOUND,NOT_FOUND 1 197515121 . C . . NT END=197515862;NT GT ./. 1 197515253 rs11276673 ATGTTCAG A 49 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=822;Gene=DENND1B/NM_001195215.1/1;CC=c.1282-140_1282-134delCTGAACA;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:ATGTTCAG,A:17:1:0:14:3,14:98,455:0.00,48.74:0.00,3.69:0.00,45.04:0.00,1.00:0.00,0.88:0.00,1.00:60,60:16.3,9.9:0,0:0,0:134,113:12,37:4,11:-,NM_001195215.1(DENND1B) c.1282-140_1282-134delCTGAACA:-,0.99:-,NOT_FOUND 1 197515715 rs4303099 G A 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1863,A/0.8137;Gene=DENND1B/NM_001195215.1/1;CC=c.1281+148C>T;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:12:0:0:12:369:42.55:42.55:0.00:1.00:1.00:0.00:60:50.1:0:0:75:75:32:NM_001195215.1(DENND1B) c.1281+148C>T,NM_001195215.1(DENND1B) c.1281+148C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 1 197515777 rs4316386 A T 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1923,T/0.8077;Gene=DENND1B/NM_001195215.1/1;CC=c.1281+86T>A;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:17:0:0:20:640:73.53:62.31:11.21:1.00:1.00:1.00:60:50.2:0:0:34:117:30:NM_001195215.1(DENND1B) c.1281+86T>A,NM_001195215.1(DENND1B) c.1281+86T>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 197515904 . C . . NT END=197521384;NT GT ./. 1 197515981 rs10922249 T C 113 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7732,C/0.2268;Gene=DENND1B/NM_001195215.1/1;CC=c.1241-78A>G;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:18:0:0:30:992:113.43:48.52:64.90:1.00:1.00:1.00:60:41.9:0:0:124:23:13:NM_001195215.1(DENND1B) c.1241-78A>G,NM_001195215.1(DENND1B) c.1241-78A>G:0.23,0.23:0.279605,0.279605 1 197520241 rs67381571 ACC A 19 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=128;Gene=DENND1B/NM_001195215.1/1;CC=c.1240+1909_1240+1910delGG;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:5:5:162:18.58:7.55:11.03:1.00:1.00:1.00:70:27.8:0:0:67:37:22:NM_001195215.1(DENND1B) c.1240+1909_1240+1910delGG,NM_001195215.1(DENND1B) c.1240+1909_1240+1910delGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 197521877 rs6677361 T C 237 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.2113,C/0.7887;Gene=DENND1B/NM_001195215.1/1;CC=c.1240+275A>G;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.*234A>G;VC=3UTR;Gene=DENND1B/NM_144977.4/0;CC=c.*234A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:C:61:26:0:0:61:2079:236.97:79.59:157.38:1.00:1.00:1.00:60:38.3:0:0:89:56:32:NM_001195215.1(DENND1B) c.1240+275A>G,NM_001195215.1(DENND1B) c.1240+275A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 197522243 . C . . NT END=197552281;NT GT ./. 1 197552384 . C . . NT END=197564337;NT GT ./. 1 197564464 . C . . NT END=197576202;NT GT ./. 1 197576305 . C . . NT END=197581060;NT GT ./. 1 197576307 rs11411505 A AT 112 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.02196,AT/0.978;NP=1;NP=3302;PC=1.000;Gene=DENND1B/NM_001195215.1/1;CC=c.820-4dupA;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.730-4dupA;VC=Intron;Gene=DENND1B/NM_144977.4/0;CC=c.820-4dupA;VC=Intron;DM=DENND1B/DENN;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:A,AT:35:20:33:0:2,33:31,998:0.00,112.41:0.00,49.42:0.00,62.99:0.00,1.00:0.00,1.00:0.00,1.00:60,70:33.5,11.3:1,0:0,0:25,93:125,57:16,32:NM_001195215.1(DENND1B) c.820-4_820-3insA,NM_001195215.1(DENND1B) c.820-4_820-3insA:0.98,0.98:0.978731,0.978731 1 197581107 . C . . NT END=197586788;NT GT ./. 1 197586890 . C . . NT END=197611840;NT GT ./. 1 197611952 . C . . NT END=197614819;NT GT ./. 1 197612115 rs6428414 T C 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.03115,C/0.9688;Gene=DENND1B/NM_001195215.1/1;CC=c.562-164A>G;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.472-164A>G;VC=Intron;Gene=DENND1B/NM_144977.4/0;CC=c.562-164A>G;VC=Intron;DM=DENND1B/DENN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:434:49.60:0.00:49.60:1.00:0.00:1.00:60:38.6:0:0:110:41:36:NM_001195215.1(DENND1B) c.562-164A>G,NM_001195215.1(DENND1B) c.562-164A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 197614874 . C . . NT END=197616184;NT GT ./. 1 197616245 . C . . NT END=197621364;NT GT ./. 1 197621446 . C . . NT END=197627429;NT GT ./. 1 197627500 . C . . NT END=197641166;NT GT ./. 1 197641287 . C . . NT END=197643249;NT GT ./. 1 197643300 . C . . NT END=197684160;NT GT ./. 1 197684205 . C . . NT END=197703138;NT GT ./. 1 197703746 . T TA 16 idl,rn VT=INS;SST=Single;DP=74;NP=6;PC=0.019;Gene=DENND1B/NM_001195215.1/1;CC=c.83-19543dupT;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.52+969dupT;VC=Intron;Gene=DENND1B/NM_144977.4/0;CC=c.83-19543dupT;VC=Intron;Gene=DENND1B/NM_001195216.1/0;CC=c.*1031dupT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,T,TA,D:73:47:8:3:2,61,7,3:67,1880,254,81:3.80,0.00,15.95,4.32:4.17,0.00,6.59,4.05:-0.37,0.00,9.36,0.27:0.00,0.00,0.89,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.96,0.00:60,60,70,60:33.5,9.1,5.0,42.3:0,0,1,0:0,0,0,0:130,67,57,91:20,77,94,60:6,39,39,14:-,NM_001195215.1(DENND1B) c.83-19543_83-19542insT:-,NOT_FOUND:-,NOT_FOUND 1 197704717 rs17641524 C T 243 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=C/0.8784,G/.,T/0.1216;PC=0.012;Gene=DENND1B/NM_001195215.1/1;CC=c.83-20513G>A;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.51G>A;ProtCh=p.S17=;VC=Silent;Gene=DENND1B/NM_144977.4/0;CC=c.83-20513G>A;VC=Intron;Gene=DENND1B/NM_001195216.1/0;CC=c.*61G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:155:112:0:0:1,76,78:7,2384,2524:-0.17,0.00,243.27:-0.10,0.00,124.13:-0.07,0.00,119.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:192.0,7.6,38.6:0,0,0:0,0,0:32,66,62:118,84,82:0,40,33:-,NM_001195215.1(DENND1B) c.83-20513G>A:-,0.12:-,0.154475 1 197704927 . C . . NT END=197741997;NT GT ./. 1 197705275 rs35362999 TA T 11 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TA/0.6787,T/0.3213;NP=592;PC=0.052;Gene=DENND1B/NM_001195215.1/1;CC=c.83-21072delT;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.-159-350delT;VC=Intron;Gene=DENND1B/NM_144977.4/0;CC=c.83-21072delT;VC=Intron;Gene=DENND1B/NM_001195216.1/0;CC=c.83-350delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:TA,T:9:0:0:5:5,4:129,148:0.00,10.83:0.00,0.00:0.00,10.83:0.00,0.84:0.00,0.00:0.00,0.84:60,60:28.0,12.8:0,1:0,0:98,121:53,28:12,8:-,NM_001195215.1(DENND1B) c.83-21072delT:-,NOT_FOUND:-,NOT_FOUND 1 197741951 rs2477067 C A 101 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.002796,A/0.9972;PC=0.012;Gene=DENND1B/NM_001195215.1/1;CC=c.82+47G>T;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.-160+47G>T;VC=Intron;Gene=DENND1B/NM_144977.4/0;CC=c.82+47G>T;VC=Intron;Gene=DENND1B/NM_001195216.1/0;CC=c.82+47G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:25:0:0:27:878:100.67:75.77:24.90:1.00:1.00:1.00:60:35.6:0:0:39:112:35:NM_001195215.1(DENND1B) c.82+47G>T,NM_001195215.1(DENND1B) c.82+47G>T:0.96,0.96:0.994744,0.994744 1 197742063 . C . . NT END=197744268;NT GT ./. 1 197742171 rs2488396 C T 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.1234,T/0.8766;Gene=DENND1B/NM_001195215.1/1;CC=c.18-109G>A;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.-224-109G>A;VC=Intron;Gene=DENND1B/NM_144977.4/0;CC=c.18-109G>A;VC=Intron;Gene=DENND1B/NM_001195216.1/0;CC=c.18-109G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:0:0:0:20:654:74.90:0.00:74.90:1.00:0.00:1.00:60:36.7:0:0:84:66:37:NM_001195215.1(DENND1B) c.18-109G>A,NM_001195215.1(DENND1B) c.18-109G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 1 197744098 rs117405403 G C 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.4159,C/0.5841;PC=0.058;Gene=DENND1B/NM_001195215.1/1;CC=c.17+171C>G;VC=Intron;Gene=DENND1B/NR_125340.1/0;VC=NonCoding;Gene=DENND1B/NM_001300858.1/0;CC=c.-225+171C>G;VC=Intron;Gene=DENND1B/NM_144977.4/0;CC=c.17+171C>G;VC=Intron;Gene=DENND1B/NM_001195216.1/0;CC=c.17+171C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:24:0:0:10,14:282,390:25.90,0.00:25.90,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:46.2,17.2:0,0:0,0:54,42:96,109:36,24:NM_001195215.1(DENND1B) c.17+171C>G,-:0.58,-:NOT_FOUND,- 1 197744286 . G . . NT END=197871779;NT GT ./. 1 197871493 rs4565750 A G 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5942,G/0.4058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,G:8:8:0:0:4,4:131,114:0.00,10.87:0.00,10.87:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:11.0,59.2:0,0:0,0:40,47:109,104:20,9:-,NM_001024594.2(C1orf53) c.-98-u189A>G:-,0.4:-,NOT_FOUND 1 197871915 rs202128014 G C 223 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=159;DB;DBA=NA;PAF=G/0.9974,C/0.002596;NP=13;Gene=C1orf53/NM_001024594.2/1;CC=c.136G>C;ProtCh=p.E46Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:159:115:0:0:74,85:2351,2709:222.68,0.00:131.29,0.00:91.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,5.9:0,0:0,0:54,60:93,90:37,32:NM_001024594.2(C1orf53) c.136G>C (p.Glu46Gln),-:NOT_FOUND,-:0.003404,- 1 197872044 . G . . NT END=197874925;NT GT ./. 1 197874949 rs2270763 T C 83 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.6404,C/0.3596;PC=0.993;Gene=C1orf53/NM_001024594.2/1;CC=c.288T>C;ProtCh=p.D96=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:48:0:0:27,34:880,1108:82.70,0.00:48.82,0.00:33.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,3.7:0,0:0,0:62,50:74,84:35,23:NM_001024594.2(C1orf53) c.288T>C (p.(=)),-:0.34,-:0.366949,- 1 197875028 . G . . NT END=197876278;NT GT ./. 1 197876351 . C . . NT END=197881661;NT GT ./. 1 197876533 rs1546244 C A 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.02656,A/0.9734;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:205:23.36:0.00:23.36:1.00:0.00:1.00:60:36.2:0:0:72:78:23:NM_001014434.1(LHX9) c.-27-u5102C>A,NM_001014434.1(LHX9) c.-27-u5102C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 197881690 . G . . NT END=197886356;NT GT ./. 1 197886323 . A C 6 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;PC=0.739;Gene=LHX9/NM_001014434.1/1;CC=c.29-686A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:A,C:40:27:0:0:34,6:930,107:0.00,6.32:0.00,5.67:0.00,0.65:0.00,0.88:0.00,0.96:0.00,0.93:60,60:23.7,109.3:0,0:0,0:46,71:92,66:28,35:-,NM_020204.2(LHX9) c.-437-u194A>C:-,NOT_FOUND:-,NOT_FOUND 1 197887128 . G . . NT END=197889101;NT GT ./. 1 197889305 . G . . NT END=197890433;NT GT ./. 1 197890251 rs138718544 TC T 15 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TC/0.9834,T/0.01657;NP=6;Gene=LHX9/NM_001014434.1/1;CC=c.351-181delC;VC=Intron;Gene=LHX9/NM_020204.2/0;CC=c.378-181delC;VC=Intron;DM=LHX9/LIM;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:TC,T:11:11:0:5:6,5:203,163:0.00,15.39:0.00,15.39:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:11.2,0.0:0,0:0,0:64,29:86,122:9,7:-,NM_020204.2(LHX9) c.378-182delC:-,0.03:-,NOT_FOUND 1 197890422 rs12122995 C G 300 nt VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.07009,G/0.9299;PC=0.996;Gene=LHX9/NM_001014434.1/1;CC=c.351-12C>G;VC=Intron;Gene=LHX9/NM_020204.2/0;CC=c.378-12C>G;VC=Intron;DM=LHX9/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:81:73:0:0:80,1:2624,10:299.95,0.12:222.47,0.00:77.48,0.12:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,30.0:0,0:0,0:46,37:102,113:33,0:NM_020204.2(LHX9) c.378-12C>G,NM_020204.2(LHX9) c.378-12C>G:0.93,0.93:0.918268,0.918268 1 197890790 . G . . NT END=197896720;NT GT ./. 1 197896924 . G . . NT END=197898131;NT GT ./. 1 197898023 rs386354499 C CAA 126 idl,rn VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.2965,CA/0.7035,CAA/.;DB;DBA=NA;PAF=C/0.2965,CA/0.7035,CAA/.,CAAA/.;DB;DBA=NA;PAF=NA;NP=144;NP=77;Gene=LHX9/NM_001014434.1/1;CC=c.910-97_910-96insAA;VC=Intron;Gene=LHX9/NM_020204.2/0;CC=c.937-97_937-96insAA;VC=Intron;DM=LHX9/Homeobox;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,CAA,D:42:52:47:1:4,37,1:106,1459,33:0.00,126.44,2.03:0.00,126.44,2.03:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:62.5,22.8,0.0:1,10,0:0,0,0:95,49,42:55,102,109:26,22,0:-,NM_020204.2(LHX9) c.937-109_937-108insAA:-,NOT_FOUND:-,NOT_FOUND 1 197898395 rs111260868 G GT 31 rn VT=INS;SST=Single;DP=92;DB;DBA=NA;PAF=NA;NP=3;PC=1.000;Gene=LHX9/NM_001014434.1/1;CC=c.*18dupT;VC=3UTR;Gene=LHX9/NM_020204.2/0;CC=c.*18dupT;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:90:35:15:2:75,14,1:2361,438,67:0.00,31.08,1.56:0.00,6.33,-0.12:0.00,24.75,1.68:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:14.9,44.8,11.0:0,1,1:0,0,0:80,86,70:71,57,80:35,33,20:-,NM_020204.2(LHX9) c.*18dupT:-,NOT_FOUND:-,NOT_FOUND 1 197899274 . t . . NT END=197901048;NT GT ./. 1 197901106 . A . . NT END=198201710;NT GT ./. 1 198201768 . G . . NT END=198222169;NT GT ./. 1 198201907 rs538364741 ATT A 7 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=69;PC=0.001;Gene=NEK7/NM_133494.2/1;CC=c.57+153_57+154delTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:ATT,I,A:17:0:1:3:13,1,3:380,20,93:0.00,0.92,7.38:0.00,0.00,0.00:0.00,0.92,7.38:0.00,0.00,0.53:0.00,0.00,0.00:0.00,0.00,0.53:60,60,60:13.5,17.0,0.0:0,0,0:0,0,0:104,56,118:47,94,33:28,0,5:-,NM_133494.2(NEK7) c.57+141_57+142delTT:-,NOT_FOUND:-,NOT_FOUND 1 198222311 . G . . NT END=198231704;NT GT ./. 1 198222457 rs3762381 A T 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5333,T/0.4667;PC=0.001;Gene=NEK7/NM_133494.2/1;CC=c.198+147A>T;VC=Intron;DM=NEK7/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,T:12:0:0:0:7,5:209,160:0.00,14.85:0.00,0.00:0.00,14.85:0.00,0.92:0.00,0.00:0.00,0.92:60,60:10.4,36.4:0,0:0,0:80,93:70,58:27,45:-,NM_133494.2(NEK7) c.198+147A>T:-,0.46:-,NOT_FOUND 1 198231768 . G . . NT END=198233254;NT GT ./. 1 198233366 . G . . NT END=198247090;NT GT ./. 1 198247200 . G . . NT END=198248083;NT GT ./. 1 198248007 rs527437713 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=5;Gene=NEK7/NM_133494.2/1;CC=c.482-77C>T;VC=Intron;DM=NEK7/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:15:0:0:8,8:268,242:0.00,23.20:0.00,23.50:0.00,-0.30:0.00,1.00:0.00,1.00:0.00,0.67:60,60:1.6,32.6:0,0:0,0:45,44:105,106:35,39:-,NM_133494.2(NEK7) c.482-77C>T:-,NOT_FOUND:-,NOT_FOUND 1 198248192 . G . . NT END=198262074;NT GT ./. 1 198262170 . G . . NT END=198266256;NT GT ./. 1 198266371 . G . . NT END=198288541;NT GT ./. 1 198288653 . A . . NT END=198492520;NT GT ./. 1 198288709 rs6679100 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.3059,G/0.6941;PC=0.098;Gene=NEK7/NM_133494.2/1;CC=c.*57A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:17:0:0:28,8:894,260:0.00,21.54:0.00,4.92:0.00,16.62:0.00,0.98:0.00,0.96:0.00,1.00:60,60:10.0,41.4:0,0:0,0:102,102:45,22:29,29:-,NM_133494.2(NEK7) c.*57A>G:-,0.63:-,NOT_FOUND 1 198492695 . C . . NT END=198498210;NT GT ./. 1 198498312 . C . . NT END=198505808;NT GT ./. 1 198505830 rs3736930 C T 28 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.9726,T/0.02736;Gene=ATP6V1G3/NM_133262.2/0;CC=c.82+3869G>A;VC=Intron;Gene=ATP6V1G3/NM_133326.1/1;CC=c.107G>A;ProtCh=p.R36Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:18:0:0:13,9:439,306:0.00,28.43:0.00,17.06:0.00,11.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,41.6:0,0:0,0:85,76:65,75:21,28:-,NM_133262.2(ATP6V1G3) c.82+3869G>A:-,0.04:-,0.02215 1 198505855 . C . . NT END=198509698;NT GT ./. 1 198509781 . G . . NT END=198608398;NT GT ./. 1 198553289 rs11808427 A C 161 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.1184,C/0.8816;PC=0.060 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:41:0:0:45:1400:161.33:137.14:24.19:1.00:1.00:1.00:60:59.2:0:0:56:94:33:chr1 g.198553288A>C (intergenic),chr1 g.198553288A>C (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 1 198553533 rs7541130 G A 97 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.01817,A/0.9818;PC=0.083 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:5:0:0:29:833:96.96:11.13:85.83:1.00:1.00:1.00:60:69.3:0:0:111:27:23:chr1 g.198553532G>A (intergenic),chr1 g.198553532G>A (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 198553577 . T C 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;PC=0.128 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,G,T:19:1:0:0:4,1,14:109,13,400:8.68,0.27,0.00:1.60,0.00,0.00:7.08,0.27,0.00:0.72,0.00,0.00:0.47,0.00,0.00:0.72,0.00,0.00:60,60,60:177.2,78.0,73.0:0,0,0:0,0,0:48,78,106:69,73,44:10,0,25:chr1 g.198553576T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 198608472 . G . . NT END=198661475;NT GT ./. 1 198662336 . T . . NT END=198663576;NT GT ./. 1 198664301 . T . . NT END=198665840;NT GT ./. 1 198666039 . G . . NT END=198668692;NT GT ./. 1 198668834 . G . . NT END=198671515;NT GT ./. 1 198671660 . G . . NT END=198672426;NT GT ./. 1 198672502 . G . . NT END=198673600;NT GT ./. 1 198673628 . G . . NT END=198675862;NT GT ./. 1 198676082 . G . . NT END=198677261;NT GT ./. 1 198677391 . G . . NT END=198678815;NT GT ./. 1 198678954 . G . . NT END=198682081;NT GT ./. 1 198679093 rs10753834 G T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.004;Gene=PTPRC/NM_002838.4/1;CC=c.1171+140G>T;VC=Intron;Gene=PTPRC/NM_080921.3/0;CC=c.688+140G>T;VC=Intron;DM=PTPRC/fn3;DM=PTPRC/fn3;DM=PTPRC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:G,T:6:0:0:0:3,3:97,99:0.00,9.53:0.00,0.00:0.00,9.53:0.00,0.73:0.00,0.00:0.00,0.73:60,60:2.3,47.3:0,0:0,0:144,72:6,79:1,59:-,NM_002838.4(PTPRC) c.1171+140G>T:-,0.45:-,NOT_FOUND 1 198682202 . G . . NT END=198685810;NT GT ./. 1 198685970 . G . . NT END=198687222;NT GT ./. 1 198687432 . G . . NT END=198691544;NT GT ./. 1 198691606 . G . . NT END=198697468;NT GT ./. 1 198697578 . G . . NT END=198698265;NT GT ./. 1 198698301 . G . . NT END=198700745;NT GT ./. 1 198700856 . G . . NT END=198701428;NT GT ./. 1 198701289 rs1932433 T A,C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4645,C/0.5355;PC=0.011;DM=PTPRC/Y_phosphatase;DM=PTPRC/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:10:A,C:7:7:0:0:1,6:21,180:1.74,20.43:1.74,20.43:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:134.0,31.7:0,0:0,0:53,36:98,115:0,20:NM_002838.4(PTPRC) c.1975-140T>A,NM_002838.4(PTPRC) c.1975-140T>C:NOT_FOUND,0.57:NOT_FOUND,NOT_FOUND 1 198701520 . G . . NT END=198701608;NT GT ./. 1 198701686 . G . . NT END=198703324;NT GT ./. 1 198703362 . G . . NT END=198703456;NT GT ./. 1 198703555 . G . . NT END=198704255;NT GT ./. 1 198704382 . G . . NT END=198710997;NT GT ./. 1 198711156 . G . . NT END=198711360;NT GT ./. 1 198711170 . C CA 18 idl,rn VT=INS;SST=Single;DP=80;NP=6;Gene=PTPRC/NM_002838.4/1;CC=c.2561+27dupA;VC=Intron;Gene=PTPRC/NM_080921.3/0;CC=c.2078+27dupA;VC=Intron;DM=PTPRC/Y_phosphatase;DM=PTPRC/Y_phosphatase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,C,T,CA,D:76:39:11:6:3,59,1,8,5:26,1626,6,338,185:-0.29,0.00,-0.27,18.24,9.93:-0.39,0.00,-0.13,11.50,1.90:0.11,0.00,-0.14,6.74,8.02:0.00,0.00,0.00,0.93,0.00:0.00,0.00,0.00,0.94,0.00:0.00,0.00,0.00,0.98,0.00:60,60,60,60,60:42.7,20.6,61.0,12.1,0.0:1,1,0,3,1:0,0,0,0,0:58,102,56,79,67:86,33,50,72,83:33,28,0,19,8:-,NM_002838.4(PTPRC) c.2561+15_2561+16insA:-,NOT_FOUND:-,NOT_FOUND 1 198711497 . G . . NT END=198713182;NT GT ./. 1 198713333 . G . . NT END=198717237;NT GT ./. 1 198717218 rs554238594 G GT 27 idl,rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=92;Gene=PTPRC/NM_002838.4/1;CC=c.2848-4dupT;VC=Intron;Gene=PTPRC/NM_080921.3/0;CC=c.2365-4dupT;VC=Intron;DM=PTPRC/Y_phosphatase;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:G,GT,D:15:14:11:1:5,9,1:147,340,24:0.00,27.48,1.52:0.00,15.72,-0.09:0.00,11.76,1.62:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:40.2,71.9,31.0:0,2,0:0,0,0:95,32,55:17,97,96:14,22,0:-,NM_002838.4(PTPRC) c.2848-20_2848-19insT:-,NOT_FOUND:-,NOT_FOUND 1 198717329 . G . . NT END=198718544;NT GT ./. 1 198718679 . G . . NT END=198719620;NT GT ./. 1 198719756 . G . . NT END=198721377;NT GT ./. 1 198719973 rs874909 T C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8283,C/0.1717;Gene=PTPRC/NM_002838.4/1;CC=c.3207+218T>C;VC=Intron;Gene=PTPRC/NM_080921.3/0;CC=c.2724+218T>C;VC=Intron;DM=PTPRC/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:274:31.69:0.00:31.69:1.00:0.00:1.00:60:31.7:0:0:111:38:15:NM_002838.4(PTPRC) c.3207+218T>C,NM_002838.4(PTPRC) c.3207+218T>C:0.21,0.21:NOT_FOUND,NOT_FOUND 1 198721501 . G . . NT END=198721722;NT GT ./. 1 198721902 . G . . NT END=198723397;NT GT ./. 1 198723534 . G . . NT END=198725034;NT GT ./. 1 198723723 rs397696189 A ATAAG 23 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8377,ATAAG/0.1623;DB;DBA=NA;PAF=A/0.8377,ATAAG/0.1623;NP=174;Gene=PTPRC/NM_002838.4/1;CC=c.3645+192_3645+195dupAAGT;VC=Intron;Gene=PTPRC/NM_080921.3/0;CC=c.3162+192_3162+195dupAAGT;VC=Intron;DM=PTPRC/Y_phosphatase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,C,ATAAG:12:0:7:0:4,1,7:126,11,229:0.00,0.43,23.08:0.00,0.00,0.00:0.00,0.43,23.08:0.00,0.00,0.99:0.00,0.00,0.00:0.00,0.00,0.99:60,60,60:0.0,64.0,0.0:0,1,0:0,0,0:139,75,53:6,74,96:2,0,45:-,NM_002838.4(PTPRC) c.3645+190_3645+191insTAAG:-,NOT_FOUND:-,NOT_FOUND 1 198725311 . G . . NT END=199996975;NT GT ./. 1 198918502 rs4915331 T C 31 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1849,C/0.8151;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:4:0:0:8:271:30.92:9.84:21.07:1.00:1.00:1.00:60:65.5:0:0:107:43:25:chr1 g.198918501T>C (intergenic),chr1 g.198918501T>C (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 1 198918524 rs4915332 A G 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1729,G/0.8271;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:178:20.63:7.41:13.22:1.00:1.00:1.00:60:77.0:0:0:98:52:22:chr1 g.198918523A>G (intergenic),chr1 g.198918523A>G (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 198918616 rs4915333 C G 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1050;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:6:0:0:8:271:30.92:19.13:11.78:1.00:1.00:1.00:60:66.1:0:0:37:113:23:chr1 g.198918615C>G (intergenic),chr1 g.198918615C>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 198968275 rs67273886 C CTGTGTG 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=16;NP=5;Gene=LINC01222/NR_110525.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:C,CTGTGTG:3:3:4:0:1,2:12,134:0.00,6.64:0.00,-0.17:0.00,6.81:0.00,0.46:0.00,0.80:0.00,0.87:60,60:0.0,0.0:0,2:0,0:108,31:31,113:0,6:-,chr1 g.198968275_198968276insTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 198980199 rs5779952 T C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=264;NP=7;NP=8;NP=81;PC=0.022;Gene=LINC01222/NR_110525.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:146:16.96:9.79:7.17:1.00:1.00:1.00:70:54.8:0:0:50:96:40:chr1 g.198980198T>C (intergenic),chr1 g.198980198T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 199357243 rs502360 A G 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.5851,G/0.4149;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:38:24:0:0:18,1,19:621,10,611:0.00,0.02,59.00:0.00,0.13,22.39:0.00,-0.11,36.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.4,85.0,43.8:0,0,0:0,0,0:78,108,73:70,29,68:34,0,40:-,chr1 g.199357242A>G (intergenic):-,0.39:-,NOT_FOUND 1 199357350 rs501451 T C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.6004,C/0.3996;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:5:0:0:7,12:211,373:19.01,0.00:2.66,0.00:16.35,0.00:0.98,0.00:0.89,0.00:1.00,0.00:60,60:73.4,5.1:0,0:0,0:98,57:53,93:33,39:chr1 g.199357349T>C (intergenic),-:0.38,-:NOT_FOUND,- 1 199357363 rs501382 T C 14 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6004,C/0.3996;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:C,T:20:8:0:0:6,14:164,475:13.95,0.00:0.22,0.00:13.73,0.00:0.94,0.00:0.92,0.00:0.98,0.00:60,60:75.8,6.7:0,0:0,0:105,53:45,98:27,31:chr1 g.199357362T>C (intergenic),-:0.38,-:NOT_FOUND,- 1 199357586 rs693911 G C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6512,C/0.3488;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:36:18:0:0:11,25:369,834:32.53,0.00:12.11,0.00:20.42,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:34.5,4.7:0,0:0,0:105,80:45,71:15,29:chr1 g.199357585G>C (intergenic),-:0.33,-:NOT_FOUND,- 1 199382909 rs4022436 C CGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7887,T/0.2113;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=293;NP=4;NP=57;PC=0.009;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,CGT,D:4:1:2:1:1,2,1:32,67,23:0.00,6.75,2.05:0.00,1.79,0.00:0.00,4.96,2.05:0.00,0.51,0.00:0.00,0.67,0.00:0.00,0.51,0.00:60,60,60:0.0,0.0,51.0:0,0,0:0,0,0:51,94,118:100,35,33:0,30,0:-,chr1 g.199382909_199382910insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 199519752 rs57736122 G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=19;NP=217;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:4:2:0:0:2,2:68,70:6.55,0.00:1.64,0.00:4.91,0.00:0.51,0.00:0.79,0.00:0.51,0.00:60,60:86.0,0.0:0,0:0,0:31,87:96,25:23,44:chr1 g.199519751G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 199599004 rs5779988 T TTG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5996,TTG/0.4004,TTGTG/.;DB;DBA=NA;PAF=T/0.5996,TTG/0.4004,TTGTG/.;NP=1;NP=165;NP=22;PC=0.005;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TTG:3:3:4:0:3:121:9.85:4.38:5.48:0.85:0.99:0.95:60:18.3:1:0:24:127:10:chr1 g.199599004_199599005insTG (intergenic),chr1 g.199599004_199599005insTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 199652211 . AGAGTGT A 16 nt VT=DEL;SST=Single;DP=9;NP=13;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AGAGTGT,A:8:7:0:6:3,5:65,191:0.00,15.86:0.00,10.95:0.00,4.91:0.00,0.96:0.00,0.99:0.00,0.96:60,70:35.0,11.4:1,1:0,0:34,77:105,70:24,37:-,chr1 g.199652212_199652217delGAGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 199997040 . G . . NT END=200007828;NT GT ./. 1 200007901 . G . . NT END=200008785;NT GT ./. 1 200008924 . G . . NT END=200011952;NT GT ./. 1 200011818 rs2817006 C T 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.7812,T/0.2188;Gene=NR5A2/NM_003822.4/0;CC=c.65-1084C>T;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.203-1084C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:16,9:462,281:0.00,25.29:0.00,25.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.2,42.1:0,0:0,0:60,24:90,127:32,8:-,NM_205860.1(NR5A2) c.203-1084C>T:-,0.21:-,NOT_FOUND 1 200012127 . G . . NT END=200012901;NT GT ./. 1 200013021 . G . . NT END=200014570;NT GT ./. 1 200014713 . G . . NT END=200017299;NT GT ./. 1 200014762 rs2817008 A G 67 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.6376,G/0.3624;Gene=NR5A2/NM_003822.4/0;CC=c.325+50A>G;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.463+50A>G;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.247+50A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:12:0:0:15,20:481,679:0.00,67.06:0.00,13.22:0.00,53.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,55.5:0,0:0,0:104,111:44,35:18,21:-,NM_205860.1(NR5A2) c.463+50A>G:-,0.35:-,0.464698 1 200014790 rs2817009 A G 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.772,G/0.228;Gene=NR5A2/NM_003822.4/0;CC=c.325+78A>G;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.463+78A>G;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.247+78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:6:0:0:13,14:408,463:0.00,44.89:0.00,4.91:0.00,39.98:0.00,1.00:0.00,0.98:0.00,1.00:60,60:2.9,64.4:0,0:0,0:123,77:21,73:12,45:-,NM_205860.1(NR5A2) c.463+78A>G:-,0.21:-,NOT_FOUND 1 200017586 rs2821368 C G 225 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.7698,G/0.2302;PC=0.787;Gene=NR5A2/NM_003822.4/0;CC=c.612C>G;ProtCh=p.P204=;VC=Silent;Gene=NR5A2/NM_205860.2/1;CC=c.750C>G;ProtCh=p.P250=;VC=Silent;Gene=NR5A2/NM_001276464.1/0;CC=c.534C>G;ProtCh=p.P178=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:115:72:0:0:46,69:1448,2257:0.00,225.00:0.00,98.35:0.00,126.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,38.0:0,0:0,0:76,69:73,81:26,41:-,NM_205860.1(NR5A2) c.750C>G (p.(=)):-,0.21:-,0.280332 1 200017947 . G . . NT END=200080329;NT GT ./. 1 200022667 rs2737641 G A 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7163,A/0.2837;Gene=NR5A2/NM_003822.4/0;CC=c.972+4721G>A;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1110+4721G>A;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.894+4721G>A;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:6:0:0:8:226:26.37:13.15:13.22:1.00:1.00:1.00:70:41.8:0:0:85:65:40:NM_205860.1(NR5A2) c.1110+4721G>A,NM_205860.1(NR5A2) c.1110+4721G>A:0.27,0.27:NOT_FOUND,NOT_FOUND 1 200022697 . GCA G,GCGCACACA 13 idl,nt VT=INS;SST=Single;DP=9;NP=8;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:58:GCA,GCGCACACA,G:8:6:4:4:1,4,3:31,127,115:0.00,12.94,8.02:0.00,9.72,1.32:0.00,3.22,6.70:0.00,0.85,0.00:0.00,0.96,0.00:0.00,0.96,0.00:60,70,60:37.0,39.2,93.3:0,0,1:0,0,0:126,51,80:24,60,69:0,21,17:NM_205860.1(NR5A2) c.1110+4752_1110+4753delCA,NM_205860.1(NR5A2) c.1110+4752_1110+4753insGCACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 200022701 rs74136123 A G 7 sb;idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NR5A2/NM_003822.4/0;CC=c.972+4755A>G;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1110+4755A>G;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.894+4755A>G;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:8:5:0:1:5,3:150,76:0.00,6.74:0.00,-0.81:0.00,7.55:0.00,0.67:0.00,0.90:0.00,0.90:70,60:43.2,82.7:0,3:0,0:53,69:70,80:26,8:-,NM_205860.1(NR5A2) c.1110+4755A>G:-,NOT_FOUND:-,NOT_FOUND 1 200080450 . G . . NT END=200089935;NT GT ./. 1 200080462 rs111949351 A AT 34 nt VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=436;Gene=NR5A2/NM_003822.4/0;CC=c.1092+13_1092+14insT;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1230+13_1230+14insT;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1014+13_1014+14insT;VC=Intron;DM=NR5A2/Hormone_recep;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:68:29:15:1:52,15,1:1594,424,22:0.00,34.09,0.57:0.00,14.89,-0.10:0.00,19.20,0.66:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:70,60,60:48.1,66.7,0.0:19,0,0:0,0,0:120,92,8:23,50,143:25,28,0:-,NM_205860.1(NR5A2) c.1230+13_1230+14insT:-,NOT_FOUND:-,NOT_FOUND 1 200080463 rs3828110 C T 141 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5493,A/.,T/0.4507;Gene=NR5A2/NM_003822.4/0;CC=c.1092+14C>T;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1230+14C>T;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1014+14C>T;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,C,T:64:27:0:1:4,10,50:60,269,1292:3.38,0.00,140.65:-0.13,0.00,43.65:3.51,0.00,97.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:103.5,64.2,47.5:3,10,18:0,0,0:62,109,121:88,34,22:7,16,24:-,NM_205860.1(NR5A2) c.1230+14C>T:-,0.36:-,NOT_FOUND 1 200080464 rs575136199 C A 48 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=6;Gene=NR5A2/NM_003822.4/0;CC=c.1092+15C>A;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1230+15C>A;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1014+15C>A;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T,I,D:57:22:13:2:16,27,1,12,1:536,817,10,346,48:48.46,0.00,-0.04,25.97,0.20:15.05,0.00,-0.07,3.54,-0.07:33.41,0.00,0.03,22.42,0.28:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,70,60:72.6,37.4,0.0,76.3,144.0:14,0,0,1,1:0,0,0,0,0:85,141,9,106,104:51,7,142,45,46:24,6,0,16,17:NM_205860.1(NR5A2) c.1230+15C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 200080614 rs2737672 T G 62 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.001597,G/0.9984;NP=1659;PC=1.000;Gene=NR5A2/NM_003822.4/0;CC=c.1092+165T>G;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1230+165T>G;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1014+165T>G;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:0:0:0:17:538:61.87:0.00:61.87:1.00:0.00:1.00:60:40.9:0:0:86:65:38:NM_205860.1(NR5A2) c.1230+165T>G,NM_205860.1(NR5A2) c.1230+165T>G:1,1:NOT_FOUND,NOT_FOUND 1 200089668 rs10919811 A C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.6146,C/0.3854;Gene=NR5A2/NM_003822.4/0;CC=c.1093-268A>C;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1231-268A>C;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1015-268A>C;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:284:33.13:33.13:0.00:1.00:1.00:0.00:60:44.6:0:0:36:114:16:NM_205860.1(NR5A2) c.1231-268A>C,NM_205860.1(NR5A2) c.1231-268A>C:0.36,0.36:NOT_FOUND,NOT_FOUND 1 200089872 rs10494808 C T 176 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.6314,T/0.3686;Gene=NR5A2/NM_003822.4/0;CC=c.1093-64C>T;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1231-64C>T;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1015-64C>T;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:T:46:39:0:0:46:1538:175.74:123.15:52.59:1.00:1.00:1.00:60:39.4:0:0:36:111:22:NM_205860.1(NR5A2) c.1231-64C>T,NM_205860.1(NR5A2) c.1231-64C>T:0.35,0.35:NOT_FOUND,NOT_FOUND 1 200090084 . G . . NT END=200143090;NT GT ./. 1 200090120 rs3762398 G A 73 nt VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.7422,A/0.2578;Gene=NR5A2/NM_003822.4/0;CC=c.1240+37G>A;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1378+37G>A;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1162+37G>A;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:12:0:0:24,21:756,700:73.49,0.00:18.93,0.00:54.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.9,14.3:0,0:0,0:95,99:50,52:28,35:NM_205860.1(NR5A2) c.1378+37G>A,-:0.24,-:0.251115,- 1 200090219 rs3762397 C T 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.631,T/0.369;Gene=NR5A2/NM_003822.4/0;CC=c.1240+136C>T;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1378+136C>T;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1162+136C>T;VC=Intron;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:0:0:0:16:511:58.71:0.00:58.71:1.00:0.00:1.00:60:48.2:0:0:99:51:36:NM_205860.1(NR5A2) c.1378+136C>T,NM_205860.1(NR5A2) c.1378+136C>T:0.35,0.35:NOT_FOUND,NOT_FOUND 1 200113357 rs71132673 TCTCTCACA A,T 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=311;DM=NR5A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:25:A,T:4:3:0:3:1,3:31,103:2.98,11.36:0.00,5.68:2.98,5.68:0.00,0.85:0.00,0.99:0.00,0.85:60,70:143.0,21.3:0,0:0,0:71,41:80,90:0,29:NM_205860.1(NR5A2) c.1378+23274_1378+23281delTCTCTCAC,NM_205860.1(NR5A2) c.1378+23275_1378+23282delCTCTCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 200143064 . CT C 73 idl,rn VT=DEL;SST=Single;DP=96;NP=4;PC=0.002;Gene=NR5A2/NM_003822.4/0;CC=c.1241-8delT;VC=Intron;Gene=NR5A2/NM_205860.2/1;CC=c.1379-8delT;VC=Intron;Gene=NR5A2/NM_001276464.1/0;CC=c.1163-8delT;VC=Intron;DM=NR5A2/Hormone_recep;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:84:84:9:39:50,8,26:1624,289,1173:0.00,18.80,72.92:0.00,11.99,53.92:0.00,6.81,19.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:31.2,33.0,35.9:0,1,11:0,0,0:79,52,53:51,71,92:27,31,30:-,NM_205860.1(NR5A2) c.1379-26delT:-,NOT_FOUND:-,NOT_FOUND 1 200143281 rs1060060 C T 170 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.6456,T/0.3544;Gene=NR5A2/NM_003822.4/0;CC=c.1431C>T;ProtCh=p.N477=;VC=Silent;Gene=NR5A2/NM_205860.2/1;CC=c.1569C>T;ProtCh=p.N523=;VC=Silent;Gene=NR5A2/NM_001276464.1/0;CC=c.1353C>T;ProtCh=p.N451=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:113:55:0:0:56,1,56:1674,10,1771:0.00,-0.13,170.10:0.00,0.01,60.49:0.00,-0.14,109.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.6,87.0,38.7:0,0,0:0,0,0:79,69,78:63,82,63:38,0,30:-,NM_205860.1(NR5A2) c.1569C>T (p.(=)):-,0.37:-,0.309165 1 200143339 . G . . NT END=200376145;NT GT ./. 1 200143442 rs1060061 T C 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.5367,C/0.4633;PC=1.000;Gene=NR5A2/NM_003822.4/0;CC=c.*104T>C;VC=3UTR;Gene=NR5A2/NM_205860.2/1;CC=c.*104T>C;VC=3UTR;Gene=NR5A2/NM_001276464.1/0;CC=c.*104T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:1:0:0:17,16:498,458:47.96,0.00:1.89,0.00:46.07,0.00:1.00,0.00:0.68,0.00:1.00,0.00:60,60:54.9,25.6:0,0:0,0:109,103:42,43:22,28:NM_205860.1(NR5A2) c.*104T>C,-:0.44,-:NOT_FOUND,- 1 200170950 rs140499559 CGT C 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=44;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CGT,C:4:4:0:4:1,3:32,130:0.00,10.17:0.00,8.79:0.00,1.38:0.00,0.78:0.00,0.97:0.00,0.87:60,60:30.0,7.0:0,1:0,0:118,18:33,124:0,10:-,chr1 g.200170951_200170952delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 200182654 rs6427805 T C 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.06989,C/0.9301;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:311:35.39:35.39:0.00:1.00:1.00:0.00:60:73.2:0:0:43:108:34:NM_001105517.1(FAM58BP) c.-36-u2T>C,NM_001105517.1(FAM58BP) c.-36-u2T>C:0.94,0.94:0.934476,0.934476 1 200182664 rs6427806 C T 34 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3355,T/0.6645;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:301:34.39:32.45:1.94:1.00:1.00:1.00:60:73.1:0:0:37:114:20:NM_001105517.1(FAM58BP) c.-28C>T,NM_001105517.1(FAM58BP) c.-28C>T:0.62,0.62:0.53798,0.53798 1 200182703 rs369891064 GGAGGACGCCGGAGAGGAGGCCGGA G 20 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GGAGGACGCCGGAGAGGAGGCCGGA/0.8674,G/0.1326;DB;DBA=NA;PAF=GGAGGACGCCGGAGAGGAGGCCGGA/0.8674,G/0.1326;NP=203;PC=0.057;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:GGAGGACGCCGGAGAGGAGGCCGGA,G:9:9:0:6:3,6:83,194:0.00,19.78:0.00,17.97:0.00,1.80:0.00,0.99:0.00,0.99:0.00,0.78:60,60:82.0,68.7:0,0:0,0:139,70:12,80:10,10:-,NM_001105517.1(FAM58BP) c.30_53delGGCCGGAGAGGACGCCGGAGAGGA (p.Glu10_Glu17del):-,NOT_FOUND:-,0.345339 1 200182834 rs12028402 A G 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.3622,G/0.6378;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:23:0:0:31:962:110.96:60.47:50.49:1.00:1.00:1.00:60:33.5:0:0:56:95:28:NM_001105517.1(FAM58BP) c.143A>G (p.Gln48Arg),NM_001105517.1(FAM58BP) c.143A>G (p.Gln48Arg):0.53,0.53:0.471782,0.471782 1 200183398 rs10919847 C A 141 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.3361,A/0.6639;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:A:38:18:0:0:38:1229:140.99:42.30:98.69:1.00:1.00:1.00:60:54.8:0:0:69:70:26:NM_001105517.1(FAM58BP) c.707C>A (p.Thr236Asn),NM_001105517.1(FAM58BP) c.707C>A (p.Thr236Asn):0.62,0.62:0.504767,0.504767 1 200183460 rs10919848 C T 97 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4754,T/0.5246;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:8:0:0:26:844:96.75:15.96:80.79:1.00:1.00:1.00:60:66.3:0:0:115:36:14:NM_001105517.1(FAM58BP) c.*10C>T,NM_001105517.1(FAM58BP) c.*10C>T:0.5,0.5:0.377364,0.377364 1 200329011 rs71135349 C G,CTG 6 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5116,G/0.4884;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:C,G,CTG:4:4:3:1:1,1,2:34,36,97:0.00,3.28,6.34:0.00,1.59,3.06:0.00,1.69,3.28:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.87:60,60,70:0.0,70.0,0.0:0,0,1:0,0,0:138,139,40:13,12,55:0,0,8:NR_040064.1(C1orf98) n.550+8782G>C,NR_040064.1(C1orf98) n.550+8781_550+8782insCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 200377104 rs145437316 T C 210 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=NA;PC=0.782;Gene=ZNF281/NM_001281293.1/0;CC=c.1730A>G;ProtCh=p.N577S;VC=Missense;Gene=ZNF281/NM_001281294.1/1;CC=c.1622A>G;ProtCh=p.N541S;VC=Missense;Gene=ZNF281/NM_012482.4/0;CC=c.1730A>G;ProtCh=p.N577S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:126:77:0:0:65,61:2165,1967:209.62,0.00:118.68,0.00:90.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,9.5:0,0:0,0:57,88:90,60:25,35:NM_012482.3(ZNF281) c.1730A>G (p.Asn577Ser),-:NOT_FOUND,-:0.000077,- 1 200378834 . A . . NT END=200522515;NT GT ./. 1 200522351 rs10800708 A T 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4447,T/0.5553;Gene=KIF14/NM_001305792.1/0;CC=c.*165T>A;VC=3UTR;Gene=KIF14/NM_014875.2/1;CC=c.*165T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:265:30.31:30.31:0.00:1.00:1.00:0.00:60:49.2:0:0:34:116:25:NM_014875.2(KIF14) c.*165T>A,NM_014875.2(KIF14) c.*165T>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 200522566 rs12120084 G C 119 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.7804,C/0.2196;PC=0.002;Gene=KIF14/NM_001305792.1/0;CC=c.3424C>G;ProtCh=p.P1142A;VC=Missense;Gene=KIF14/NM_014875.2/1;CC=c.4897C>G;ProtCh=p.P1633A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:95:69:0:0:1,40,54:10,1275,1718:-0.15,118.64,0.00:-0.03,56.60,0.00:-0.12,62.05,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:51.0,42.0,11.1:0,0,0:0,0,0:49,72,72:102,74,76:0,32,28:NM_014875.2(KIF14) c.4897C>G (p.Pro1633Ala),-:0.26,-:0.305782,- 1 200522896 . C . . NT END=200523595;NT GT ./. 1 200523514 rs7548174 A G 55 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4131,G/0.5869;Gene=KIF14/NM_001305792.1/0;CC=c.3094+82T>C;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.4567+82T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:475:55.11:47.60:7.50:1.00:1.00:1.00:60:33.9:4:0:71:79:28:NM_014875.2(KIF14) c.4567+82T>C,NM_014875.2(KIF14) c.4567+82T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 200523518 . CA C 11 rn VT=DEL;SST=Single;DP=17;NP=11;Gene=KIF14/NM_001305792.1/0;CC=c.3094+77delT;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.4567+77delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:CA,C:17:16:0:4:13,4:396,130:0.00,10.88:0.00,6.60:0.00,4.28:0.00,0.74:0.00,0.97:0.00,0.81:60,60:29.7,39.0:0,0:0,0:67,67:83,83:36,16:-,NM_014875.2(KIF14) c.4567+77delT:-,NOT_FOUND:-,NOT_FOUND 1 200523735 . C . . NT END=200524507;NT GT ./. 1 200524583 . C . . NT END=200528457;NT GT ./. 1 200528581 . C . . NT END=200529849;NT GT ./. 1 200530009 . C . . NT END=200534196;NT GT ./. 1 200534009 rs7518491 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4199,G/0.5801;Gene=KIF14/NM_001305792.1/0;CC=c.2598+188T>C;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.4071+188T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G,T:8:8:0:0:7,1:193,9:22.22,0.54:22.22,0.54:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:31.9,142.0:0,0:0,0:44,25:107,124:12,0:NM_014875.2(KIF14) c.4071+188T>C,NM_014875.2(KIF14) c.4071+188T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 200534248 rs7543730 C T 239 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.4365,T/0.5635;PC=0.001;Gene=KIF14/NM_001305792.1/0;CC=c.2547G>A;ProtCh=p.E849=;VC=Silent;Gene=KIF14/NM_014875.2/1;CC=c.4020G>A;ProtCh=p.E1340=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:66:46:0:0:66:2077:239.03:127.89:111.13:1.00:1.00:1.00:60:40.2:0:0:86:59:38:NM_014875.2(KIF14) c.4020G>A (p.(=)),NM_014875.2(KIF14) c.4020G>A (p.(=)):0.57,0.57:0.535907,0.535907 1 200534382 . C . . NT END=200534572;NT GT ./. 1 200534798 . C . . NT END=200539038;NT GT ./. 1 200538885 rs10800711 C T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2334,T/0.7666;Gene=KIF14/NM_001305792.1/0;CC=c.2188+154G>A;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.3661+154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:193:22.16:22.16:0.00:1.00:1.00:0.00:60:34.0:0:0:45:104:19:NM_014875.2(KIF14) c.3661+154G>A,NM_014875.2(KIF14) c.3661+154G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 200539134 . C . . NT END=200544718;NT GT ./. 1 200544820 . C . . NT END=200549381;NT GT ./. 1 200549512 . C . . NT END=200550328;NT GT ./. 1 200549590 rs10753877 T C 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.4429,C/0.5571;Gene=KIF14/NM_001305792.1/0;CC=c.1863-79A>G;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.3336-79A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:14:0:0:35:1126:129.18:29.50:99.68:1.00:1.00:1.00:60:44.0:0:0:107:31:22:NM_014875.2(KIF14) c.3336-79A>G,NM_014875.2(KIF14) c.3336-79A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 200550166 rs12093062 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.742,T/0.258;Gene=KIF14/NM_001305792.1/0;CC=c.1862+163G>A;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.3335+163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:9:9:0:0:3,6:96,197:0.00,20.07:0.00,20.07:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,58.7:0,0:0,0:70,35:80,114:46,25:-,NM_014875.2(KIF14) c.3335+163G>A:-,0.23:-,NOT_FOUND 1 200550243 rs71135370 G GAA 21 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=KIF14/NM_001305792.1/0;CC=c.1862+85_1862+86insTT;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.3335+85_3335+86insTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:G,GAA:8:11:9:0:2,6:67,293:0.00,20.60:0.00,20.60:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:69.0,43.8:0,3:0,0:120,70:21,80:26,28:-,NM_014875.2(KIF14) c.3335+85_3335+86insTT:-,NOT_FOUND:-,NOT_FOUND 1 200550423 . C . . NT END=200555228;NT GT ./. 1 200555074 rs12092539 C G 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7422,G/0.2578;Gene=KIF14/NM_001305792.1/0;CC=c.1768+155G>C;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.3241+155G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:18:0:0:9,9:309,314:0.00,30.28:0.00,30.43:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.67:60,60:2.6,37.0:0,0:0,0:68,61:82,89:19,33:-,NM_014875.2(KIF14) c.3241+155G>C:-,0.23:-,NOT_FOUND 1 200555356 . C . . NT END=200558344;NT GT ./. 1 200555482 rs6691410 C T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7869,T/0.2131;Gene=KIF14/NM_001305792.1/0;CC=c.1642-127G>A;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.3115-127G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:2:0:0:6,7:191,202:0.00,19.61:0.00,3.66:0.00,15.95:0.00,0.99:0.00,0.82:0.00,0.99:60,60:2.0,40.7:0,0:0,0:134,93:14,58:8,34:-,NM_014875.2(KIF14) c.3115-127G>A:-,0.25:-,NOT_FOUND 1 200558363 rs6665951 T C 195 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.2334,C/0.7666;PC=0.308;Gene=KIF14/NM_001305792.1/0;CC=c.1623A>G;ProtCh=p.E541=;VC=Silent;Gene=KIF14/NM_014875.2/1;CC=c.3096A>G;ProtCh=p.E1032=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C,T:53:39:0:0:52,1:1717,11:194.70,0.00:120.35,0.00:74.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.9,11.0:0,0:0,0:42,149:97,2:28,0:NM_014875.2(KIF14) c.3096A>G (p.(=)),NM_014875.2(KIF14) c.3096A>G (p.(=)):0.76,0.76:0.806675,0.806675 1 200558420 rs77213709 C T 81 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.994,T/0.00599;NP=23;PC=0.997;Gene=KIF14/NM_001305792.1/0;CC=c.1566G>A;ProtCh=p.K522=;VC=Silent;Gene=KIF14/NM_014875.2/1;CC=c.3039G>A;ProtCh=p.K1013=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:48:0:0:37,26:1218,875:0.00,81.40:0.00,49.07:0.00,32.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.8,69.2:0,0:0,0:70,59:77,90:30,40:-,NM_014875.2(KIF14) c.3039G>A (p.(=)):-,0.0023:-,0.002768 1 200558498 . C . . NT END=200559252;NT GT ./. 1 200558650 rs75982554 A AAATATCACTAGTCAAACTT 21 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2338,AAATATCACTAGTCAAACTT/0.7662;NP=22;Gene=KIF14/NM_001305792.1/0;CC=c.1489-154_1489-153insAAGTTTGACTAGTGATATT;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.2962-154_2962-153insAAGTTTGACTAGTGATATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,AAATATCACTAGTCAAACTT:12:0:7:0:5,7:163,212:0.00,20.99:0.00,0.00:0.00,20.99:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,6.7:0,0:0,0:133,55:1,96:11,11:-,NM_014875.2(KIF14) c.2962-154_2962-153insAAGTTTGACTAGTGATATT:-,0.74:-,NOT_FOUND 1 200559401 . C . . NT END=200561207;NT GT ./. 1 200561369 . C . . NT END=200562794;NT GT ./. 1 200562898 . C . . NT END=200567364;NT GT ./. 1 200563055 rs57476742 G GTTTTT 10 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;PC=0.002;Gene=KIF14/NM_001305792.1/0;CC=c.1077-159_1077-158insAAAAA;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.2550-159_2550-158insAAAAA;VC=Intron;DM=KIF14/FHA;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:G,GTTTTT:8:0:6:0:4,4:126,160:0.00,10.23:0.00,0.00:0.00,10.23:0.00,0.84:0.00,0.00:0.00,0.84:60,70:13.2,59.8:1,2:0,0:133,100:14,50:11,19:-,NM_014875.2(KIF14) c.2550-159_2550-158insAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 200567340 . C CT 7 rn VT=INS;SST=Single;DP=38;NP=2;PC=0.303;Gene=KIF14/NM_001305792.1/0;CC=c.1076+24dupA;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.2549+24dupA;VC=Intron;DM=KIF14/FHA;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,CT:38:34:3:0:35,3:1102,99:0.00,6.78:0.00,5.76:0.00,1.02:0.00,0.38:0.00,0.84:0.00,0.61:60,60:9.6,0.0:0,0:0,0:39,37:99,114:24,19:-,NM_014875.2(KIF14) c.2549+24_2549+25insA:-,NOT_FOUND:-,0.003355 1 200567550 . C . . NT END=200569177;NT GT ./. 1 200569242 . C . . NT END=200569483;NT GT ./. 1 200569392 rs2809357 C A 96 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.08766,A/0.9123;Gene=KIF14/NM_001305792.1/0;CC=c.827+92G>T;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.2300+92G>T;VC=Intron;DM=KIF14/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:18:0:0:27:836:96.42:60.90:35.53:1.00:1.00:1.00:60:42.5:0:0:73:78:41:NM_014875.2(KIF14) c.2300+92G>T,NM_014875.2(KIF14) c.2300+92G>T:0.92,0.92:NOT_FOUND,NOT_FOUND 1 200569632 . C . . NT END=200571023;NT GT ./. 1 200571197 . C . . NT END=200572353;NT GT ./. 1 200572470 . C . . NT END=200572966;NT GT ./. 1 200573084 . C . . NT END=200574410;NT GT ./. 1 200573258 rs2808237 C G 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.08806,G/0.9119;Gene=KIF14/NM_001305792.1/0;CC=c.274-175G>C;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.1747-175G>C;VC=Intron;DM=KIF14/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:191:21.96:0.00:21.96:1.00:0.00:1.00:60:31.8:0:0:94:56:21:NM_014875.2(KIF14) c.1747-175G>C,NM_014875.2(KIF14) c.1747-175G>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 200574519 . C . . NT END=200574991;NT GT ./. 1 200575023 . C . . NT END=200575873;NT GT ./. 1 200575256 rs10494822 G A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7802,A/0.2198;Gene=KIF14/NM_001305792.1/0;CC=c.135-234C>T;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.1608-234C>T;VC=Intron;DM=KIF14/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:0:0:0:3,2:96,68:9.57,0.00:0.00,0.00:9.57,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:32.0,8.5:0,0:0,0:105,120:45,31:13,28:NM_014875.2(KIF14) c.1608-234C>T,-:0.26,-:NOT_FOUND,- 1 200575927 . C . . NT END=200577957;NT GT ./. 1 200578057 . C . . NT END=200583445;NT GT ./. 1 200578093 rs2794409 G A 72 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.08786,A/0.9121;Gene=KIF14/NM_001305792.1/0;CC=c.-18-37C>T;VC=Intron;Gene=KIF14/NM_014875.2/1;CC=c.1456-37C>T;VC=Intron;DM=KIF14/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:9:0:0:20:627:72.23:23.50:48.73:1.00:1.00:1.00:60:37.9:0:0:102:39:15:NM_014875.2(KIF14) c.1456-37C>T,NM_014875.2(KIF14) c.1456-37C>T:0.92,0.92:0.948027,0.948027 1 200583534 . C . . NT END=200584482;NT GT ./. 1 200584738 . C . . NT END=200586739;NT GT ./. 1 200587852 . T . . NT END=200610275;NT GT ./. 1 200610384 . G . . NT END=200613163;NT GT ./. 1 200610525 rs71135374 TA T 41 idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=TA/0.2989,T/0.7011;DB;DBA=NA;PAF=TA/0.2989,T/0.7011;NP=21;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,TA,T:19:0:0:16:1,4,14:10,123,448:0.27,0.00,40.89:0.00,0.00,0.00:0.27,0.00,40.89:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:24.0,31.8,36.7:0,0,2:0,0,0:19,136,104:131,14,47:0,10,13:-,chr1 g.200610526delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 200610606 rs111503486 C CTCATGCCTGTAA 19 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.02137,CTCA/.,CTCATGCC/.,CTCATGCCTGTAA/0.9786;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,CTCATGCCTGTAA:9:1:6:0:3,6:79,185:0.00,18.90:0.00,1.85:0.00,17.05:0.00,0.99:0.00,0.78:0.00,0.99:60,60:28.0,15.8:0,0:0,0:126,95:3,56:13,10:-,chr1 g.200610606_200610607insTCATGCCTGTAA (intergenic):-,0.96:-,NOT_FOUND 1 200613247 rs138787592 AAT A 104 PASS VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=AAT/0.7911,A/0.2089;NP=28;Gene=DDX59/NM_001031725.4/1;CC=c.*133_*134delAT;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAT,T,A:72:61:0:34:37,1,34:1194,12,1089:0.00,-0.02,103.79:0.00,0.04,70.22:0.00,-0.06,33.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.5,87.0,4.7:0,0,0:0,0,0:76,14,51:75,133,98:36,0,34:-,NM_001031725.4(DDX59) c.*131AT[1]:-,0.19:-,NOT_FOUND 1 200613646 . C . . NT END=200617565;NT GT ./. 1 200617696 . C . . NT END=200618200;NT GT ./. 1 200618238 rs6665604 T C 247 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.04253,C/0.9575;Gene=DDX59/NM_001031725.4/1;CC=c.1431A>G;ProtCh=p.S477=;VC=Silent;DM=DDX59/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:A,C:70:51:0:0:1,69:20,2144:0.71,246.76:0.71,131.67:0.00,115.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:141.0,35.0:0,0:0,0:87,82:64,66:0,36:NM_001031725.4(DDX59) c.1431A>G (p.(=)),NM_001031725.4(DDX59) c.1431A>G (p.(=)):0.96,0.96:0.949562,0.949562 1 200618355 . C . . NT END=200619551;NT GT ./. 1 200619333 rs2809362 A T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01498,T/0.985;PC=0.001;Gene=DDX59/NM_001031725.4/1;CC=c.1314+220T>A;VC=Intron;DM=DDX59/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:147:17.08:17.08:0.00:1.00:1.00:0.00:60:39.8:0:0:114:37:36:NM_001031725.4(DDX59) c.1314+220T>A,NM_001031725.4(DDX59) c.1314+220T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 200619478 rs2808230 C A 144 nt VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.01498,A/0.985;Gene=DDX59/NM_001031725.4/1;CC=c.1314+75G>T;VC=Intron;DM=DDX59/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A:40:38:0:0:40:1255:144.38:123.51:20.87:1.00:1.00:1.00:60:63.7:0:0:47:103:29:NM_001031725.4(DDX59) c.1314+75G>T,NM_001031725.4(DDX59) c.1314+75G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 200619530 rs2809365 T C 234 nt VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.02436,C/0.9756;Gene=DDX59/NM_001031725.4/1;CC=c.1314+23A>G;VC=Intron;DM=DDX59/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:C:61:53:0:0:61:2046:233.65:164.60:69.05:1.00:1.00:1.00:60:51.8:0:0:47:92:28:NM_001031725.4(DDX59) c.1314+23A>G,NM_001031725.4(DDX59) c.1314+23A>G:0.98,0.98:0.977382,0.977382 1 200619805 . C . . NT END=200628153;NT GT ./. 1 200628245 . C . . NT END=200633045;NT GT ./. 1 200632890 rs61450632 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7815,T/0.2185;NP=37;Gene=DDX59/NM_001031725.4/1;CC=c.972+157G>A;VC=Intron;DM=DDX59/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:C,T:19:19:0:0:13,6:412,195:0.00,17.22:0.00,17.22:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:12.6,113.2:1,0:0,0:38,34:113,116:31,7:-,NM_001031725.4(DDX59) c.972+157G>A:-,NOT_FOUND:-,NOT_FOUND 1 200632895 . TA T 8 idl,rn VT=DEL;SST=Single;DP=17;NP=4;Gene=DDX59/NM_001031725.4/1;CC=c.972+151delT;VC=Intron;DM=DDX59/DEAD;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:G,TA,I,T:14:17:2:7:1,8,2,3:9,267,66,188:0.13,0.00,5.26,7.90:0.13,0.00,5.26,7.90:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.53:0.00,0.00,0.00,0.53:0.00,0.00,0.00,0.00:60,60,60,60:17.0,26.4,10.0,198.3:0,0,0,3:0,0,0,0:29,67,35,39:122,83,116,111:0,38,19,7:-,NM_001031725.4(DDX59) c.972+151delT:-,NOT_FOUND:-,NOT_FOUND 1 200632960 rs57155598 T C 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7815,C/0.2185;Gene=DDX59/NM_001031725.4/1;CC=c.972+87A>G;VC=Intron;DM=DDX59/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:39:0:0:18,22:567,669:53.31,0.00:50.78,0.00:2.53,0.00:1.00,0.00:1.00,0.00:0.63,0.00:60,60:85.8,9.1:0,0:0,0:35,48:114,102:27,31:NM_001031725.4(DDX59) c.972+87A>G,-:0.2,-:NOT_FOUND,- 1 200632966 rs60572979 A G 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.7815,G/0.2185;Gene=DDX59/NM_001031725.4/1;CC=c.972+81T>C;VC=Intron;DM=DDX59/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:40:0:0:23,18:717,547:0.00,51.02:0.00,47.53:0.00,3.49:0.00,1.00:0.00,1.00:0.00,0.74:60,60:8.7,85.8:0,0:0,0:54,41:97,108:34,27:-,NM_001031725.4(DDX59) c.972+81T>C:-,0.2:-,NOT_FOUND 1 200633215 . C . . NT END=200635063;NT GT ./. 1 200635550 rs3795634 T C 227 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=T/0.7815,C/0.2185;PC=0.984;Gene=DDX59/NM_001031725.4/1;CC=c.319A>G;ProtCh=p.I107V;VC=Missense;DM=DDX59/zf-HIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:140:99:0:0:73,67:2341,2150:226.86,0.00:117.94,0.00:108.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:82.9,6.6:0,0:0,0:87,76:64,74:33,37:NM_001031725.4(DDX59) c.319A>G (p.Ile107Val),-:0.2,-:0.090266,- 1 200635560 rs3795633 T C 214 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.7815,C/0.2185;PC=0.156;Gene=DDX59/NM_001031725.4/1;CC=c.309A>G;ProtCh=p.P103=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:142:97:0:0:72,1,69:2218,29,2224:213.70,1.04,0.00:114.75,-0.13,0.00:98.95,1.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:84.8,60.0,7.6:0,0,0:0,0,0:84,148,83:63,1,67:36,0,38:NM_001031725.4(DDX59) c.309A>G (p.(=)),-:0.2,-:0.090266,- 1 200635618 rs146060105 C G 227 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.9982,G/0.001797;NP=17;Gene=DDX59/NM_001031725.4/1;CC=c.251G>C;ProtCh=p.S84T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:140:96:0:0:68,72:2333,2352:0.00,227.39:0.00,114.92:0.00,112.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,81.3:0,0:0,0:69,68:78,83:29,31:-,NM_001031725.4(DDX59) c.251G>C (p.Ser84Thr):-,0.0018:-,0.003691 1 200635721 rs150913822 C G 258 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=184;DB;DBA=NA;PAF=C/0.9982,G/0.001797;NP=17;PC=0.005;Gene=DDX59/NM_001031725.4/1;CC=c.148G>C;ProtCh=p.A50P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:184:114:0:0:1,99,84:11,3451,2731:-0.15,0.00,258.27:-0.09,0.00,110.79:-0.06,0.00,147.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:59.0,3.7,46.6:0,0,0:0,0,0:5,82,71:145,63,70:0,31,39:-,NM_001031725.4(DDX59) c.148G>C (p.Ala50Pro):-,0.0018:-,0.003691 1 200635869 . C . . NT END=200708955;NT GT ./. 1 200687234 rs73084698 A G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9325,G/0.06749;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:158:18.18:15.31:2.88:1.00:1.00:1.00:60:36.6:0:0:28:120:2:chr1 g.200687233A>G (intergenic),chr1 g.200687233A>G (intergenic):0.09,0.09:NOT_FOUND,NOT_FOUND 1 200687272 rs60263175 T TAC 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=37;NP=95;PC=0.025;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TAC:6:5:4:0:2,4:68,125:0.00,12.75:0.00,9.89:0.00,2.86:0.00,0.93:0.00,0.99:0.00,0.91:60,60:29.0,31.2:0,0:0,0:72,65:30,84:41,2:-,chr1 g.200687272_200687273insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 200708748 rs540847853 A AGCG 24 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=31;PC=0.879;Gene=CAMSAP2/NM_001297707.1/1;CC=c.-185_-184insGGC;VC=5UTR;Gene=CAMSAP2/NM_001297708.1/0;CC=c.-185_-184insGGC;VC=5UTR;Gene=CAMSAP2/NM_203459.2/0;CC=c.-185_-184insGGC;VC=5UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGCG,D:21:21:9:1:11,9,1:279,258,26:0.00,24.13,1.53:0.00,21.70,1.54:0.00,2.43,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.83,0.00:60,60,60:9.7,5.2,0.0:0,0,0:0,0,0:54,27,76:97,115,75:39,15,0:-,NM_203459.1(CAMSAP2) c.-187_-185dupGGC:-,NOT_FOUND:-,NOT_FOUND 1 200709095 . G . . NT END=200729966;NT GT ./. 1 200709346 rs60195675 T C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9259,C/0.07408;Gene=CAMSAP2/NM_001297707.1/1;CC=c.139+252T>C;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.139+252T>C;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.139+252T>C;VC=Intron;DM=CAMSAP2/CAMSAP_CKK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:0:0:0:4,1:133,34:14.12,0.00:0.00,0.00:14.12,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:54.2,0.0:0,0:0,0:111,114:39,37:9,0:NM_203459.1(CAMSAP2) c.139+252T>C,-:0.08,-:NOT_FOUND,- 1 200730227 . G . . NT END=200776503;NT GT ./. 1 200776641 rs7552353 C T 104 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.7486,T/0.2514;PC=1.000;Gene=CAMSAP2/NM_001297707.1/1;CC=c.537C>T;ProtCh=p.D179=;VC=Silent;Gene=CAMSAP2/NM_001297708.1/0;CC=c.537C>T;ProtCh=p.D179=;VC=Silent;Gene=CAMSAP2/NM_203459.2/0;CC=c.537C>T;ProtCh=p.D179=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:38:0:0:36,36:1066,1082:0.00,103.66:0.00,38.23:0.00,65.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,37.6:0,0:0,0:104,87:47,61:31,23:-,NM_203459.1(CAMSAP2) c.537C>T (p.(=)):-,0.2:-,0.123174 1 200776666 . G . . NT END=200784688;NT GT ./. 1 200776867 rs397948290 C CT 7 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;PC=0.004;Gene=CAMSAP2/NM_001297707.1/1;CC=c.561+221_561+222insT;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.561+221_561+222insT;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.561+221_561+222insT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CT,D:8:0:4:1:4,3,1:109,105,24:0.00,7.40,1.72:0.00,0.00,0.00:0.00,7.40,1.72:0.00,0.64,0.00:0.00,0.00,0.00:0.00,0.64,0.00:60,60,60:28.0,53.7,42.0:0,1,0:0,0,0:131,107,79:20,43,72:14,18,0:-,NM_203459.1(CAMSAP2) c.561+202_561+203insT:-,NOT_FOUND:-,NOT_FOUND 1 200784773 . G . . NT END=200797700;NT GT ./. 1 200797734 . G . . NT END=200801327;NT GT ./. 1 200801470 . G . . NT END=200801833;NT GT ./. 1 200801974 . G . . NT END=200811121;NT GT ./. 1 200802045 rs78225055 C T 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.737,T/0.263;Gene=CAMSAP2/NM_001297707.1/1;CC=c.960+72C>T;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.927+72C>T;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.927+72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:11:0:0:13,15:372,490:0.00,47.75:0.00,17.36:0.00,30.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,42.5:0,0:0,0:64,119:86,32:25,22:-,NM_203459.1(CAMSAP2) c.927+72C>T:-,0.21:-,NOT_FOUND 1 200802137 rs41304544 G A 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7372,A/0.2628;Gene=CAMSAP2/NM_001297707.1/1;CC=c.960+164G>A;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.927+164G>A;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.927+164G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:7,8:235,248:22.34,0.00:0.00,0.00:22.34,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:53.0,14.5:0,0:0,0:63,110:88,41:31,23:NM_203459.1(CAMSAP2) c.927+164G>A,-:0.21,-:NOT_FOUND,- 1 200811216 . G . . NT END=200813909;NT GT ./. 1 200811313 rs149419826 A AT 15 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7726,AT/0.2274;NP=243;Gene=CAMSAP2/NM_001297707.1/1;CC=c.1054+108dupT;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.1021+108dupT;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.1021+108dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,AT:15:0:6:0:10,5:287,198:0.00,14.65:0.00,0.00:0.00,14.65:0.00,0.88:0.00,0.00:0.00,0.88:60,60:11.6,0.0:0,1:0,0:63,104:88,46:33,18:-,NM_203459.1(CAMSAP2) c.1021+98_1021+99insT:-,0.21:-,NOT_FOUND 1 200813710 rs4417100 A T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7318,T/0.2682;Gene=CAMSAP2/NM_001297707.1/1;CC=c.1055-200A>T;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.1022-200A>T;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.1022-200A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,T:5:5:0:0:2,3:66,92:0.00,9.17:0.00,9.17:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:27.0,34.3:0,0:0,0:33,47:117,103:19,8:-,NM_203459.1(CAMSAP2) c.1022-200A>T:-,0.21:-,NOT_FOUND 1 200813998 . G . . NT END=200816337;NT GT ./. 1 200816421 . G . . NT END=200816767;NT GT ./. 1 200816521 rs2172666 G T 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.2712,T/0.7288;NP=1374;PC=0.008;Gene=CAMSAP2/NM_001297707.1/1;CC=c.1225+101G>T;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.1144+101G>T;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.1192+101G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:5:0:0:12:391:44.82:18.88:25.94:1.00:1.00:1.00:60:51.3:0:0:56:95:34:NM_203459.1(CAMSAP2) c.1192+101G>T,NM_203459.1(CAMSAP2) c.1192+101G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 200816658 rs2131834 T C 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=CAMSAP2/NM_001297707.1/1;CC=c.1226-110T>C;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.1145-110T>C;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.1193-110T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:18:0:0:21:670:76.95:65.12:11.83:1.00:1.00:1.00:60:47.2:0:0:40:103:29:NM_203459.1(CAMSAP2) c.1193-110T>C,NM_203459.1(CAMSAP2) c.1193-110T>C:1,1:NOT_FOUND,NOT_FOUND 1 200816838 . G . . NT END=200817159;NT GT ./. 1 200819363 . G . . NT END=200821668;NT GT ./. 1 200819424 rs150601775 AT A 37 rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=AT/0.9291,A/0.07089;NP=626;Gene=CAMSAP2/NM_001297707.1/1;CC=c.3498+72delT;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.3417+72delT;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.3465+72delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:33:7:2:13:18,2,13:540,64,399:0.00,4.44,36.95:0.00,-0.04,6.85:0.00,4.48,30.09:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:1.8,45.0,6.4:0,0,0:0,0,0:123,39,121:27,111,30:16,24,16:-,NM_203459.1(CAMSAP2) c.3465+63delT:-,NOT_FOUND:-,NOT_FOUND 1 200821536 rs10800743 C T 69 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2678,T/0.7322;Gene=CAMSAP2/NM_001297707.1/1;CC=c.3499-133C>T;VC=Intron;Gene=CAMSAP2/NM_001297708.1/0;CC=c.3418-133C>T;VC=Intron;Gene=CAMSAP2/NM_203459.2/0;CC=c.3466-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:18:0:0:19:599:68.94:65.24:3.69:1.00:1.00:1.00:60:44.7:0:0:34:116:30:NM_203459.1(CAMSAP2) c.3466-133C>T,NM_203459.1(CAMSAP2) c.3466-133C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 200821806 . G . . NT END=200822402;NT GT ./. 1 200822624 . G . . NT END=200823944;NT GT ./. 1 200824018 . G . . NT END=200825137;NT GT ./. 1 200825254 . G . . NT END=200826433;NT GT ./. 1 200826553 . G . . NT END=200826881;NT GT ./. 1 200827188 . A . . NT END=200842165;NT GT ./. 1 200832857 rs7511678 G A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5753,A/0.4247 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:6:6:0:0:4,2:133,64:13.55,0.00:13.55,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:80.0,0.0:0,0:0,0:20,13:131,137:4,6:chr1 g.200832856G>A (intergenic),-:0.36,-:NOT_FOUND,- 1 200843252 . C . . NT END=200860626;NT GT ./. 1 200843307 rs397840692 T TCCCG 104 nt VT=INS;SST=Single;DP=89;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7488,TCCCG/0.2512;DB;DBA=NA;PAF=T/0.7488,TCCCG/0.2512;NP=4;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCCCG:89:43:36:0:1,52,36:9,1614,1125:-0.16,0.00,103.84:0.04,0.00,50.45:-0.20,0.00,53.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:46.0,11.0,21.8:0,0,0:0,0,0:72,121,81:79,27,66:0,19,24:-,chr1 g.200843307_200843308insCCCG (intergenic):-,0.21:-,NOT_FOUND 1 200843374 rs3738251 G C 92 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.903,C/0.09704;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:8:0:0:30,21:927,725:91.95,0.00:9.43,0.00:82.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,4.1:0,0:0,0:107,118:44,33:32,22:chr1 g.200843373G>C (intergenic),-:0.06,-:NOT_FOUND,- 1 200860830 . G . . NT END=200863948;NT GT ./. 1 200861003 rs2271019 A G 53 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4639,G/0.5361;PC=0.002;Gene=C1orf106/NM_018265.3/0;CC=c.203+174A>G;VC=Intron;DM=C1orf106/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:0:0:0:14:465:53.17:0.00:53.17:1.00:0.00:1.00:60:46.2:0:0:87:63:35:NM_018265.3(C1orf106) c.203+174A>G,NM_018265.3(C1orf106) c.203+174A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 200863772 rs3753959 C T 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5905,T/0.4095;Gene=C1orf106/NM_018265.3/0;CC=c.203+2943C>T;VC=Intron;DM=C1orf106/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A,T:18:18:0:0:1,17:10,479:0.39,55.47:0.39,55.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.0,53.7:0,0:0,0:77,45:74,103:0,36:NM_018265.3(C1orf106) c.203+2943C>T,NM_018265.3(C1orf106) c.203+2943C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 200864216 . G . . NT END=200867434;NT GT ./. 1 200867492 rs2271018 C G 328 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.8017,A/.,G/0.1983,T/.;Gene=C1orf106/NM_018265.3/0;CC=c.261C>G;ProtCh=p.P87=;VC=Silent;Gene=C1orf106/NM_001142569.2/1;CC=c.-37C>G;VC=5UTR;DM=C1orf106/DUF3338;DM=C1orf106/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:94:79:0:0:1,92,1:8,2869,10:0.00,328.49,0.10:0.00,185.71,-0.00:0.00,142.79,0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:122.0,40.8,10.0:0,0,0:0,0,0:140,66,39:3,80,112:0,34,0:NM_018265.3(C1orf106) c.261C>G (p.(=)),NM_018265.3(C1orf106) c.261C>G (p.(=)):0.21,0.21:0.208212,0.208212 1 200867584 . G . . NT END=200868600;NT GT ./. 1 200868726 . G . . NT END=200869231;NT GT ./. 1 200869349 . G . . NT END=200870064;NT GT ./. 1 200870288 . G . . NT END=200876961;NT GT ./. 1 200877016 . G . . NT END=200877857;NT GT ./. 1 200877786 rs2279837 T C 118 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.7742,C/0.2258;PC=0.097;Gene=C1orf106/NM_018265.3/0;CC=c.872-72T>C;VC=Intron;Gene=C1orf106/NM_001142569.2/1;CC=c.575-72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:30:0:0:31:1032:117.94:102.13:15.81:1.00:1.00:1.00:60:40.1:0:0:48:95:33:NM_018265.3(C1orf106) c.872-72T>C,NM_018265.3(C1orf106) c.872-72T>C:0.25,0.25:NOT_FOUND,NOT_FOUND 1 200878069 . G . . NT END=200878351;NT GT ./. 1 200878526 . G . . NT END=200880580;NT GT ./. 1 200880978 rs296520 C T 538 lc VT=SNV;PN=G;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=C/0.2081,T/0.7919;PC=0.004;Gene=C1orf106/NM_018265.3/0;CC=c.1654C>T;ProtCh=p.R552C;VC=Missense;Gene=C1orf106/NM_001142569.2/1;CC=c.1357C>T;ProtCh=p.R453C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:154:87:0:0:1,153:5,4671:0.00,538.31:0.00,239.81:0.00,298.51:0.00,1.00:0.00,1.00:0.00,1.00:54,60:111.0,43.7:0,0:0,0:86,69:22,82:0,34:NM_018265.3(C1orf106) c.1654C>T (p.Arg552Cys),NM_018265.3(C1orf106) c.1654C>T (p.Arg552Cys):0.77,0.77:0.678286,0.678286 1 200881172 rs296521 C A 353 lc VT=SNV;PN=G;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=C/0.6741,A/0.3259;PC=0.626;Gene=C1orf106/NM_018265.3/0;CC=c.1848C>A;ProtCh=p.R616=;VC=Silent;Gene=C1orf106/NM_001142569.2/1;CC=c.1551C>A;ProtCh=p.R517=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:104:55:0:0:104:3036:352.82:145.18:207.64:1.00:1.00:1.00:60:37.8:0:0:97:53:39:NM_018265.3(C1orf106) c.1848C>A (p.(=)),NM_018265.3(C1orf106) c.1848C>A (p.(=)):0.37,0.37:NOT_FOUND,NOT_FOUND 1 200881266 . G . . NT END=200882664;NT GT ./. 1 200882758 . C . . NT END=200942648;NT GT ./. 1 200884941 rs79287811 T TGTGTGCGC 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=17;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TGTGTGCGC:4:4:5:0:4:161:14.42:3.63:10.79:0.96:1.00:0.96:70:6.2:1:0:38:112:33:chr1 g.200884941_200884942insGTGTGCGC (intergenic),chr1 g.200884941_200884942insGTGTGCGC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 200943323 . C . . NT END=200943841;NT GT ./. 1 200943793 rs71991687 CAGGA C 119 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=CAGGA/0.001198,C/0.9988;DB;DBA=NA;PAF=CAGGA/0.001198,C/0.9988;DB;DBA=NA;PAF=CAGGA/0.001198,C/0.9988;NP=3408;PC=0.001;Gene=KIF21B/NM_001252100.1/1;CC=c.4814+45_4814+48delTCCT;VC=Intron;Gene=KIF21B/NM_001252102.1/0;CC=c.4814+45_4814+48delTCCT;VC=Intron;Gene=KIF21B/NM_001252103.1/0;CC=c.4775+45_4775+48delTCCT;VC=Intron;Gene=KIF21B/NM_017596.3/0;CC=c.4775+45_4775+48delTCCT;VC=Intron;DM=KIF21B/WD40;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:CAGGA,C:35:32:0:34:1,34:34,1047:0.00,118.92:0.00,106.50:0.00,12.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,8.4:0,0:0,0:137,44:5,103:0,22:NM_001252100.1(KIF21B) c.4814+45_4814+48delTCCT,NM_001252100.1(KIF21B) c.4814+45_4814+48delTCCT:NOT_FOUND,NOT_FOUND:0.99864,0.99864 1 200943992 rs367842661 G A 193 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=NA;PC=1.000;Gene=KIF21B/NM_001252100.1/1;CC=c.4664C>T;ProtCh=p.P1555L;VC=Missense;Gene=KIF21B/NM_001252102.1/0;CC=c.4664C>T;ProtCh=p.P1555L;VC=Missense;Gene=KIF21B/NM_001252103.1/0;CC=c.4625C>T;ProtCh=p.P1542L;VC=Missense;Gene=KIF21B/NM_017596.3/0;CC=c.4625C>T;ProtCh=p.P1542L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:72:0:0:59,49:1973,1497:193.13,0.00:101.58,0.00:91.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,3.6:0,0:0,0:78,76:71,73:48,37:NM_001252100.1(KIF21B) c.4664C>T (p.Pro1555Leu),-:NOT_FOUND,-:0.000077,- 1 200944042 . C . . NT END=200944626;NT GT ./. 1 200944798 . C . . NT END=200945903;NT GT ./. 1 200944840 rs296563 T G 196 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.2282,G/0.7718;PC=0.003;Gene=KIF21B/NM_001252100.1/1;CC=c.4444-43A>C;VC=Intron;Gene=KIF21B/NM_001252102.1/0;CC=c.4444-43A>C;VC=Intron;Gene=KIF21B/NM_001252103.1/0;CC=c.4405-43A>C;VC=Intron;Gene=KIF21B/NM_017596.3/0;CC=c.4405-43A>C;VC=Intron;DM=KIF21B/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:G:54:14:0:0:54:1702:195.91:35.98:159.93:1.00:1.00:1.00:60:43.1:0:0:95:43:29:NM_001252100.1(KIF21B) c.4444-43A>C,NM_001252100.1(KIF21B) c.4444-43A>C:0.75,0.75:0.715351,0.715351 1 200944991 rs10920082 C T 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7063,T/0.2937;Gene=KIF21B/NM_001252100.1/1;CC=c.4444-194G>A;VC=Intron;Gene=KIF21B/NM_001252102.1/0;CC=c.4444-194G>A;VC=Intron;Gene=KIF21B/NM_001252103.1/0;CC=c.4405-194G>A;VC=Intron;Gene=KIF21B/NM_017596.3/0;CC=c.4405-194G>A;VC=Intron;DM=KIF21B/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:369:42.15:0.00:42.15:1.00:0.00:1.00:60:36.7:0:0:107:44:13:NM_001252100.1(KIF21B) c.4444-194G>A,NM_001252100.1(KIF21B) c.4444-194G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 1 200946022 . C . . NT END=200946339;NT GT ./. 1 200946505 . C . . NT END=200948662;NT GT ./. 1 200948844 . C . . NT END=200950087;NT GT ./. 1 200950225 . C . . NT END=200952183;NT GT ./. 1 200952223 . C . . NT END=200953986;NT GT ./. 1 200952486 rs296559 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.07608,C/0.9239;Gene=KIF21B/NM_001252100.1/1;CC=c.3804-264A>G;VC=Intron;Gene=KIF21B/NM_001252102.1/0;CC=c.3804-264A>G;VC=Intron;Gene=KIF21B/NM_001252103.1/0;CC=c.3803+1501A>G;VC=Intron;Gene=KIF21B/NM_017596.3/0;CC=c.3803+1501A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:142:16.57:0.00:16.57:1.00:0.00:1.00:60:56.6:0:0:123:28:10:NM_001252100.1(KIF21B) c.3804-264A>G,NM_001252100.1(KIF21B) c.3804-264A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 200954101 . C . . NT END=200955971;NT GT ./. 1 200956047 . C . . NT END=200956123;NT GT ./. 1 200956330 . C . . NT END=200957423;NT GT ./. 1 200956404 . A AT 13 idl,rn VT=INS;SST=Single;DP=41;PC=0.084;Gene=KIF21B/NM_001252100.1/1;CC=c.3409-76dupA;VC=Intron;Gene=KIF21B/NM_001252102.1/0;CC=c.3409-76dupA;VC=Intron;Gene=KIF21B/NM_001252103.1/0;CC=c.3409-76dupA;VC=Intron;Gene=KIF21B/NM_017596.3/0;CC=c.3409-76dupA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,T,AT,D:40:8:7:3:30,1,6,3:886,28,194,90:0.00,1.35,12.92,6.04:0.00,-0.04,5.44,1.16:0.00,1.39,7.47,4.89:0.00,0.00,0.87,0.00:0.00,0.00,0.67,0.00:0.00,0.00,0.99,0.00:60,60,60,60:14.5,38.0,7.0,4.0:0,1,1,0:0,0,0,0:124,85,100,117:26,65,51,32:16,0,16,16:-,NM_001252100.1(KIF21B) c.3409-76_3409-75insA:-,NOT_FOUND:-,NOT_FOUND 1 200957482 . C . . NT END=200957620;NT GT ./. 1 200957673 . C . . NT END=200957893;NT GT ./. 1 200958060 . C . . NT END=200959069;NT GT ./. 1 200959172 . C . . NT END=200959265;NT GT ./. 1 200959461 . C . . NT END=200959703;NT GT ./. 1 200959852 . C . . NT END=200960044;NT GT ./. 1 200960278 . C . . NT END=200960784;NT GT ./. 1 200960854 . C . . NT END=200961409;NT GT ./. 1 200961518 . C . . NT END=200965323;NT GT ./. 1 200965524 . C . . NT END=200967511;NT GT ./. 1 200967704 . C . . NT END=200968476;NT GT ./. 1 200967778 rs7538954 G T 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.9529,T/0.04712;PC=0.103;Gene=KIF21B/NM_001252100.1/1;CC=c.1886-75C>A;VC=Intron;Gene=KIF21B/NM_001252102.1/0;CC=c.1886-75C>A;VC=Intron;Gene=KIF21B/NM_001252103.1/0;CC=c.1886-75C>A;VC=Intron;Gene=KIF21B/NM_017596.3/0;CC=c.1886-75C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:49:16:0:0:28,21:893,700:0.00,65.50:0.00,8.58:0.00,56.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,37.2:0,0:0,0:113,109:36,40:16,14:-,NM_001252100.1(KIF21B) c.1886-75C>A:-,0.07:-,NOT_FOUND 1 200968595 . C . . NT END=200969010;NT GT ./. 1 200969093 . C . . NT END=200969517;NT GT ./. 1 200969737 . C . . NT END=200969844;NT GT ./. 1 200969909 . C . . NT END=200971288;NT GT ./. 1 200971049 rs35304341 G A 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9447,A/0.05531;Gene=KIF21B/NM_001252100.1/1;CC=c.1402+240C>T;VC=Intron;Gene=KIF21B/NM_001252102.1/0;CC=c.1402+240C>T;VC=Intron;Gene=KIF21B/NM_001252103.1/0;CC=c.1402+240C>T;VC=Intron;Gene=KIF21B/NM_017596.3/0;CC=c.1402+240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:180:20.83:20.83:0.00:1.00:1.00:0.00:60:38.2:0:0:72:78:54:NM_001252100.1(KIF21B) c.1402+240C>T,NM_001252100.1(KIF21B) c.1402+240C>T:0.05,0.05:NOT_FOUND,NOT_FOUND 1 200971479 . C . . NT END=200972713;NT GT ./. 1 200972910 . C . . NT END=200973467;NT GT ./. 1 200973584 . C . . NT END=200973893;NT GT ./. 1 200974062 . C . . NT END=200974435;NT GT ./. 1 200974571 . C . . NT END=200974672;NT GT ./. 1 200974823 . C . . NT END=200977896;NT GT ./. 1 200975040 rs6657915 T A,C 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.03335,C/0.9667;DM=KIF21B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:10:0:0:0:1,9:25,305:1.98,34.38:0.00,0.00:1.98,34.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:118.0,62.0:0,0:0,0:27,95:124,50:0,12:NM_001252100.1(KIF21B) c.448-218A>T,NM_001252100.1(KIF21B) c.448-218A>G:NOT_FOUND,0.96:NOT_FOUND,NOT_FOUND 1 200978080 . C . . NT END=200978393;NT GT ./. 1 200978617 . C . . NT END=200992470;NT GT ./. 1 200992512 . G . . NT END=201008958;NT GT ./. 1 201009211 . C . . NT END=201009358;NT GT ./. 1 201009503 . C . . NT END=201009749;NT GT ./. 1 201009842 . C . . NT END=201010631;NT GT ./. 1 201009897 rs6427875 T C 135 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.002995,C/0.997;NP=3082;Gene=CACNA1S/NM_000069.2/1;CC=c.5135-56A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C,T:40:12:0:0:39,1:1182,10:134.98,0.00:29.88,0.00:105.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,36.0:0,0:0,0:104,78:45,69:19,0:NM_000069.2(CACNA1S) c.5135-56A>G,NM_000069.2(CACNA1S) c.5135-56A>G:1,1:0.990132,0.990132 1 201010718 . C . . NT END=201012408;NT GT ./. 1 201012660 . C . . NT END=201013455;NT GT ./. 1 201013585 . C . . NT END=201016242;NT GT ./. 1 201016296 rs3850625 G A 61 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.9159,A/0.08407;PC=1.000;Gene=CACNA1S/NM_000069.2/1;CC=c.4615C>T;ProtCh=p.R1539C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:66:43:0:0:21,44,1:686,1382,11:60.86,0.00,-0.11:19.74,0.00,-0.16:41.12,0.00,0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.3,12.1,140.0:0,0,0:0,0,0:71,80,9:78,70,98:41,32,0:NM_000069.2(CACNA1S) c.4615C>T (p.Arg1539Cys),-:0.07,-:0.089266,- 1 201016368 . C . . NT END=201016652;NT GT ./. 1 201016755 . C . . NT END=201017709;NT GT ./. 1 201017813 . C . . NT END=201018130;NT GT ./. 1 201018228 . C . . NT END=201019516;NT GT ./. 1 201019645 . C . . NT END=201020111;NT GT ./. 1 201020105 rs6702590 A G 185 nt VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.1196,G/0.8804;PC=0.046;Gene=CACNA1S/NM_000069.2/1;CC=c.4113+7T>C;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:147:G:53:44:0:0:53:1598:184.81:122.74:62.07:1.00:1.00:1.00:60:38.3:0:0:48:99:22:NM_000069.2(CACNA1S) c.4113+7T>C,NM_000069.2(CACNA1S) c.4113+7T>C:0.84,0.84:0.754805,0.754805 1 201020272 . C . . NT END=201021684;NT GT ./. 1 201020574 rs3861928 T G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1244,G/0.8756;PC=0.002;Gene=CACNA1S/NM_000069.2/1;CC=c.3954-303A>C;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:140:15.91:0.00:15.91:1.00:0.00:1.00:60:43.0:0:0:96:54:23:NM_000069.2(CACNA1S) c.3954-303A>C,NM_000069.2(CACNA1S) c.3954-303A>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 201021777 . C . . NT END=201022336;NT GT ./. 1 201022403 . C . . NT END=201022586;NT GT ./. 1 201022716 . C . . NT END=201023632;NT GT ./. 1 201023034 rs3767500 C G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.515,G/0.485;Gene=CACNA1S/NM_000069.2/1;CC=c.3667-319G>C;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:33.0:0:0:133:17:13:NM_000069.2(CACNA1S) c.3667-319G>C,NM_000069.2(CACNA1S) c.3667-319G>C:0.46,0.46:NOT_FOUND,NOT_FOUND 1 201023436 rs3818873 C T 47 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.3506,T/0.6494;Gene=CACNA1S/NM_000069.2/1;CC=c.3666+197G>A;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:397:46.69:46.69:0.00:1.00:1.00:0.00:60:41.9:0:0:29:121:27:NM_000069.2(CACNA1S) c.3666+197G>A,NM_000069.2(CACNA1S) c.3666+197G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 1 201023690 . C . . NT END=201027535;NT GT ./. 1 201027620 . C . . NT END=201028316;NT GT ./. 1 201028428 . C . . NT END=201029785;NT GT ./. 1 201029945 . C . . NT END=201030394;NT GT ./. 1 201030597 . C . . NT END=201031071;NT GT ./. 1 201031219 . C . . NT END=201031589;NT GT ./. 1 201031307 rs2297903 A C 203 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.3876,C/0.6124;Gene=CACNA1S/NM_000069.2/1;CC=c.2907-89T>G;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C:53:22:0:0:53:1782:203.43:52.59:150.84:1.00:1.00:1.00:60:45.7:0:0:111:37:16:NM_000069.2(CACNA1S) c.2907-89T>G,NM_000069.2(CACNA1S) c.2907-89T>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 201031643 . C . . NT END=201034965;NT GT ./. 1 201035074 . C . . NT END=201035356;NT GT ./. 1 201035445 . C . . NT END=201036014;NT GT ./. 1 201036122 . C . . NT END=201038264;NT GT ./. 1 201038325 . C . . NT END=201038599;NT GT ./. 1 201038730 . C . . NT END=201039399;NT GT ./. 1 201039533 . C . . NT END=201041882;NT GT ./. 1 201041953 . C . . NT END=201042676;NT GT ./. 1 201042476 rs71138316 TCTG T 18 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TCTG/0.2558,T/0.7442;DB;DBA=NA;PAF=TCTG/0.2558,T/0.7442;NP=2296;Gene=CACNA1S/NM_000069.2/1;CC=c.2157+198_2157+200delCAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:TCTG,T:6:6:0:5:1,5:22,165:0.00,17.72:0.00,17.72:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,3.6:0,0:0,0:141,47:4,104:0,11:-,NM_000069.2(CACNA1S) c.2157+198_2157+200delCAG:-,0.74:-,NOT_FOUND 1 201042618 rs9333652 G A 104 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4087,A/0.5913;Gene=CACNA1S/NM_000069.2/1;CC=c.2157+59C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:28:0:0:28:905:103.80:94.11:9.69:1.00:1.00:1.00:60:46.0:0:0:39:111:18:NM_000069.2(CACNA1S) c.2157+59C>T,NM_000069.2(CACNA1S) c.2157+59C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 201042771 . C . . NT END=201043633;NT GT ./. 1 201042983 rs2296386 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6124,A/0.3876;Gene=CACNA1S/NM_000069.2/1;CC=c.2064-213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:179:20.29:0.00:20.29:1.00:0.00:1.00:60:35.8:0:0:60:91:16:NM_000069.2(CACNA1S) c.2064-213C>T,NM_000069.2(CACNA1S) c.2064-213C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 201043749 . C . . NT END=201044622;NT GT ./. 1 201043845 rs66932448 ACT A 62 sb,nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=ACT/0.2416,A/0.7584;DB;DBA=NA;PAF=ACT/0.2416,A/0.7584;NP=1554;Gene=CACNA1S/NM_000069.2/1;CC=c.1949-99_1949-98delAG;VC=Intron;DM=CACNA1S/Ion_trans;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:ACT,A:21:1:0:20:2,19:37,562:0.00,62.49:0.00,-1.02:0.00,63.51:0.00,1.00:0.00,0.94:0.00,1.00:60,60:35.5,11.8:0,0:0,0:144,91:5,60:0,29:NM_000069.2(CACNA1S) c.1949-99_1949-98delAG,NM_000069.2(CACNA1S) c.1949-99_1949-98delAG:0.75,0.75:NOT_FOUND,NOT_FOUND 1 201044577 . A C 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;Gene=CACNA1S/NM_000069.2/1;CC=c.1948+46T>G;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,C,G:42:27:0:0:29,10,3:630,138,23:0.00,8.98,0.03:0.00,11.02,-0.03:0.00,-2.05,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:33.0,113.0,35.0:0,0,0:0,0,0:45,102,101:104,46,31:25,39,30:-,NM_000069.2(CACNA1S) c.1948+46T>G:-,NOT_FOUND:-,NOT_FOUND 1 201044583 . T C 12 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;Gene=CACNA1S/NM_000069.2/1;CC=c.1948+40A>G;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,G,T:50:22:0:0:13,1,36:181,9,974:12.01,-0.17,0.00:15.65,-0.07,0.00:-3.64,-0.10,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:120.7,9.0,21.7:0,0,0:0,0,0:59,67,43:64,63,106:41,0,33:NM_000069.2(CACNA1S) c.1948+40A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 201044744 . C . . NT END=201046047;NT GT ./. 1 201044748 rs1998721 A G 232 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.2404,G/0.7596;Gene=CACNA1S/NM_000069.2/1;CC=c.1828-5T>C;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C,G:64:34:0:0:1,63:9,2029:0.12,232.34:0.12,75.44:0.00,156.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:87.0,40.0:0,0:0,0:121,87:30,63:0,30:NM_000069.2(CACNA1S) c.1828-5T>C,NM_000069.2(CACNA1S) c.1828-5T>C:0.75,0.75:0.703291,0.703291 1 201046256 . C . . NT END=201047006;NT GT ./. 1 201046379 rs925060 T G 80 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2804,G/0.7196;PC=0.001;Gene=CACNA1S/NM_000069.2/1;CC=c.1620-124A>C;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:1:0:0:23:692:80.10:1.84:78.26:1.00:1.00:1.00:60:71.5:0:0:85:66:18:NM_000069.2(CACNA1S) c.1620-124A>C,NM_000069.2(CACNA1S) c.1620-124A>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 201046388 rs6672094 A G 85 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.1575,G/0.8425;Gene=CACNA1S/NM_000069.2/1;CC=c.1620-133T>C;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:0:0:0:22:747:85.19:0.00:85.19:1.00:0.00:1.00:60:73.3:0:0:91:59:19:NM_000069.2(CACNA1S) c.1620-133T>C,NM_000069.2(CACNA1S) c.1620-133T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 201047233 . C . . NT END=201052289;NT GT ./. 1 201052451 . C . . NT END=201054077;NT GT ./. 1 201052640 rs4915478 G A 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.2169,A/0.7831;Gene=CACNA1S/NM_000069.2/1;CC=c.1233-190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:294:33.69:0.00:33.69:1.00:0.00:1.00:60:36.4:0:0:130:21:14:NM_000069.2(CACNA1S) c.1233-190C>T,NM_000069.2(CACNA1S) c.1233-190C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 201054160 . C . . NT END=201054563;NT GT ./. 1 201054710 . C . . NT END=201056953;NT GT ./. 1 201057058 . C . . NT END=201058385;NT GT ./. 1 201058592 . C . . NT END=201060767;NT GT ./. 1 201058692 rs2296384 T C 116 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.4782,C/0.5218;Gene=CACNA1S/NM_000069.2/1;CC=c.695-101A>G;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:2:0:0:34:999:115.99:6.12:109.88:1.00:1.00:1.00:60:50.5:0:0:100:49:27:NM_000069.2(CACNA1S) c.695-101A>G,NM_000069.2(CACNA1S) c.695-101A>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 201060525 rs7532130 C T 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=498;Gene=CACNA1S/NM_000069.2/1;CC=c.694+243G>A;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:153:17.68:17.68:0.00:1.00:1.00:0.00:60:35.8:0:0:41:109:12:NM_000069.2(CACNA1S) c.694+243G>A,NM_000069.2(CACNA1S) c.694+243G>A:1,1:NOT_FOUND,NOT_FOUND 1 201060865 rs2296383 G A 127 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.6949,A/0.3051;PC=0.066;Gene=CACNA1S/NM_000069.2/1;CC=c.597C>T;ProtCh=p.I199=;VC=Silent;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:61:0:0:40,48:1339,1539:126.66,0.00:67.74,0.00:58.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,9.6:0,0:0,0:62,66:85,80:33,35:NM_000069.2(CACNA1S) c.597C>T (p.(=)),-:0.33,-:0.329771,- 1 201060921 . C . . NT END=201061099;NT GT ./. 1 201061243 . C . . NT END=201063009;NT GT ./. 1 201063150 . C . . NT END=201079291;NT GT ./. 1 201079088 rs1325311 G A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4377,A/0.5623;Gene=CACNA1S/NM_000069.2/1;CC=c.258+204C>T;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:6:6:0:0:3,3:94,81:9.04,0.00:9.04,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:65.0,13.7:0,0:0,0:66,65:85,86:57,15:NM_000069.2(CACNA1S) c.258+204C>T,-:0.56,-:NOT_FOUND,- 1 201079398 . C . . NT END=201081315;NT GT ./. 1 201079458 rs1325309 T A 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.4285,A/0.5715;Gene=CACNA1S/NM_000069.2/1;CC=c.153-61A>T;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:35:19:0:0:16,19:526,638:49.74,0.00:16.58,0.00:33.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,0.9:0,0:0,0:117,111:34,39:14,13:NM_000069.2(CACNA1S) c.153-61A>T,-:0.56,-:NOT_FOUND,- 1 201079590 rs7513829 C A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4469,A/0.5531;Gene=CACNA1S/NM_000069.2/1;CC=c.153-193G>T;VC=Intron;DM=CACNA1S/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:16:0:0:0:8,7,1:271,221,10:26.41,0.00,0.22:0.00,0.00,0.00:26.41,0.00,0.22:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.8,7.0,157.0:0,0,0:0,0,0:103,74,99:48,76,43:15,36,0:NM_000069.2(CACNA1S) c.153-193G>T,-:0.54,-:NOT_FOUND,- 1 201081283 rs112984935 AC A 56 rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=863;PC=0.002;Gene=CACNA1S/NM_000069.2/1;CC=c.152+32delG;VC=Intron;DM=CACNA1S/Ion_trans;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,I,A:58:55:1:21:37,1,20:1067,18,624:0.00,0.34,55.93:0.00,0.40,47.98:0.00,-0.06,7.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.9,67.0,14.0:0,0,0:0,0,0:50,83,55:100,48,95:24,0,39:-,NM_000069.2(CACNA1S) c.152+32delG:-,NOT_FOUND:-,NOT_FOUND 1 201081617 . G . . NT END=201083879;NT GT ./. 1 201083886 rs57062668 C G 85 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.904,G/0.09605;PC=0.946;Gene=ASCL5/NM_001270601.1/1;CC=c.615G>C;ProtCh=p.W205C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:78:62:0:0:49,29:1647,932:0.00,84.68:0.00,69.86:0.00,14.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,41.0:0,0:0,0:76,58:70,93:34,44:-,NM_001270601.1(ASCL5) c.615G>C (p.Trp205Cys):-,0.11:-,NOT_FOUND 1 201084501 . G . . NT END=201104790;NT GT ./. 1 201104944 . C . . NT END=201112947;NT GT ./. 1 201106599 rs144662228 AACACAC A 8 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=20;Gene=TMEM9/NM_001288565.1/0;CC=c.400-1662_400-1657delGTGTGT;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.400-1662_400-1657delGTGTGT;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.400-1662_400-1657delGTGTGT;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.400-1662_400-1657delGTGTGT;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.400-1662_400-1657delGTGTGT;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.409-1662_409-1657delGTGTGT;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.475-1662_475-1657delGTGTGT;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.400-1662_400-1657delGTGTGT;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.400-1662_400-1657delGTGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AACACAC,A:4:3:0:4:1,3:32,101:0.00,8.46:0.00,5.81:0.00,2.66:0.00,0.78:0.00,0.94:0.00,0.94:60,60:14.0,36.3:0,1:0,0:106,88:42,62:0,5:-,NM_016456.3(TMEM9) c.400-1662_400-1657delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 201112981 rs8158 A G 365 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.3069,G/0.6931;PC=1.000;Gene=TMEM9/NM_001288565.1/0;CC=c.366T>C;ProtCh=p.Y122=;VC=Silent;Gene=TMEM9/NM_001288566.1/0;CC=c.366T>C;ProtCh=p.Y122=;VC=Silent;Gene=TMEM9/NM_001288567.1/0;CC=c.366T>C;ProtCh=p.Y122=;VC=Silent;Gene=TMEM9/NM_001288568.1/0;CC=c.366T>C;ProtCh=p.Y122=;VC=Silent;Gene=TMEM9/NM_001288569.1/0;CC=c.366T>C;ProtCh=p.Y122=;VC=Silent;Gene=TMEM9/NM_001288570.1/0;CC=c.375T>C;ProtCh=p.Y125=;VC=Silent;Gene=TMEM9/NM_001288571.1/0;CC=c.441T>C;ProtCh=p.Y147=;VC=Silent;Gene=TMEM9/NM_016456.4/0;CC=c.366T>C;ProtCh=p.Y122=;VC=Silent;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.366T>C;ProtCh=p.Y122=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:67:0:0:98:3189:365.44:174.43:191.02:1.00:1.00:1.00:60:45.0:0:0:77:69:29:NM_016456.3(TMEM9) c.366T>C (p.(=)),NM_016456.3(TMEM9) c.366T>C (p.(=)):0.71,0.71:0.732047,0.732047 1 201113080 . C . . NT END=201115867;NT GT ./. 1 201113118 rs3738266 A G 213 nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.0613,G/0.9387;PC=0.001;Gene=TMEM9/NM_001288565.1/0;CC=c.268-39T>C;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.268-39T>C;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.268-39T>C;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.268-39T>C;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.268-39T>C;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.277-39T>C;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.343-39T>C;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.268-39T>C;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.268-39T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:24:0:0:59:1850:213.05:51.64:161.42:1.00:1.00:1.00:60:45.1:0:0:102:45:25:NM_016456.3(TMEM9) c.268-39T>C,NM_016456.3(TMEM9) c.268-39T>C:0.94,0.94:0.94787,0.94787 1 201113318 rs10920130 G A 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6923,A/0.3077;Gene=TMEM9/NM_001288565.1/0;CC=c.268-239C>T;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.268-239C>T;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.268-239C>T;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.268-239C>T;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.268-239C>T;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.277-239C>T;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.343-239C>T;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.268-239C>T;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.268-239C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:4:0:0:0:2,2:66,67:6.35,0.00:0.00,0.00:6.35,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:39.5,17.5:0,0:0,0:86,102:64,48:32,48:NM_016456.3(TMEM9) c.268-239C>T,-:0.33,-:NOT_FOUND,- 1 201115822 rs3752978 A G 137 nt VT=SNV;PN=G;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.6428,G/0.3572;Gene=TMEM9/NM_001288565.1/0;CC=c.267+46T>C;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.267+46T>C;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.267+46T>C;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.267+46T>C;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.267+46T>C;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.276+46T>C;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.342+46T>C;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.267+46T>C;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.267+46T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:85:77:0:0:40,45:1221,1413:0.00,137.21:0.00,94.81:0.00,42.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,36.1:0,0:0,0:40,36:111,115:18,24:-,NM_016456.3(TMEM9) c.267+46T>C:-,0.37:-,0.353683 1 201115977 . C . . NT END=201120888;NT GT ./. 1 201116018 rs3752979 C G 251 nt VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.0613,G/0.9387;Gene=TMEM9/NM_001288565.1/0;CC=c.159-42G>C;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.159-42G>C;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.159-42G>C;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.159-42G>C;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.159-42G>C;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.168-42G>C;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.234-42G>C;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.159-42G>C;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.159-42G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:24:0:0:69:2178:250.55:55.71:194.84:1.00:1.00:1.00:60:37.8:0:0:109:41:23:NM_016456.3(TMEM9) c.159-42G>C,NM_016456.3(TMEM9) c.159-42G>C:0.94,0.94:0.947939,0.947939 1 201116242 rs4915488 G A 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2937,A/0.7063;Gene=TMEM9/NM_001288565.1/0;CC=c.159-266C>T;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.159-266C>T;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.159-266C>T;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.159-266C>T;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.159-266C>T;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.168-266C>T;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.234-266C>T;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.159-266C>T;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.159-266C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:189:21.75:0.00:21.75:1.00:0.00:1.00:60:57.8:0:0:99:51:36:NM_016456.3(TMEM9) c.159-266C>T,NM_016456.3(TMEM9) c.159-266C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 201120730 rs2068152 C A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7097,A/0.2903;Gene=TMEM9/NM_001288565.1/0;CC=c.158+159G>T;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.158+159G>T;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.158+159G>T;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.158+159G>T;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.158+159G>T;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.167+159G>T;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.233+159G>T;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.158+159G>T;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.158+159G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,C:10:10:0:0:7,3:217,98:22.38,0.00:22.38,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.1,4.7:0,0:0,0:58,77:91,74:24,41:NM_016456.3(TMEM9) c.158+159G>T,-:0.31,-:NOT_FOUND,- 1 201120981 . C . . NT END=201122910;NT GT ./. 1 201121225 rs3818435 T A 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3127,A/0.6873;Gene=TMEM9/NM_001288565.1/0;CC=c.67-245A>T;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.67-245A>T;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.67-245A>T;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.67-245A>T;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.67-245A>T;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.76-245A>T;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.142-245A>T;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.67-245A>T;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.67-245A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:1:0:0:6:160:18.83:3.88:14.95:1.00:1.00:1.00:60:37.0:0:0:104:45:36:NM_016456.3(TMEM9) c.67-245A>T,NM_016456.3(TMEM9) c.67-245A>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 201122784 rs6684980 C T 127 nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.3141,T/0.6859;Gene=TMEM9/NM_001288565.1/0;CC=c.66+202G>A;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.66+202G>A;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.66+202G>A;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.66+202G>A;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.66+202G>A;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.75+193G>A;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.141+127G>A;VC=Intron;Gene=TMEM9/NM_016456.4/0;CC=c.66+202G>A;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.66+202G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:34:0:0:34:1109:127.04:127.04:0.00:1.00:1.00:0.00:60:47.9:0:0:42:109:25:NM_016456.3(TMEM9) c.66+202G>A,NM_016456.3(TMEM9) c.66+202G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 201122947 rs1925361 T G 535 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=T/0.0605,G/0.9395;PC=0.052;Gene=TMEM9/NM_001288565.1/0;CC=c.66+39A>C;VC=Intron;Gene=TMEM9/NM_001288566.1/0;CC=c.66+39A>C;VC=Intron;Gene=TMEM9/NM_001288567.1/0;CC=c.66+39A>C;VC=Intron;Gene=TMEM9/NM_001288568.1/0;CC=c.66+39A>C;VC=Intron;Gene=TMEM9/NM_001288569.1/0;CC=c.66+39A>C;VC=Intron;Gene=TMEM9/NM_001288570.1/0;CC=c.75+30A>C;VC=Intron;Gene=TMEM9/NM_001288571.1/0;CC=c.105A>C;ProtCh=p.T35=;VC=Silent;Gene=TMEM9/NM_016456.4/0;CC=c.66+39A>C;VC=Intron;Gene=TMEM9/NR_109920.1/0;VC=NonCoding;Gene=TMEM9/NR_109921.1/0;VC=NonCoding;Gene=TMEM9/NM_001288564.1/1;CC=c.66+39A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:153:123:0:0:1,151,1:7,4655,9:0.03,535.00,0.00:-0.00,295.77,0.00:0.03,239.23,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:169.0,35.6,82.0:0,0,0:0,0,0:16,70,54:135,77,95:0,30,0:NM_016456.3(TMEM9) c.66+39A>C,NM_016456.3(TMEM9) c.66+39A>C:0.93,0.93:0.947563,0.947563 1 201123052 . G . . NT END=201162421;NT GT ./. 1 201128612 rs112063183 TACAC T 10 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.007;Gene=TMEM9/NM_001288564.1/1;CC=c.-36-5529_-36-5526delGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TACAC,T:4:3:0:6:1,3:33,145:0.00,9.83:0.00,3.33:0.00,6.50:0.00,0.73:0.00,0.89:0.00,0.96:60,60:0.0,56.3:0,2:0,0:100,67:9,76:0,8:-,NM_016456.3(TMEM9) c.-96-u4984_-96-u4981delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 201162429 . G . . NT END=201163281;NT GT ./. 1 201163191 rs1107128 G T 85 nt VT=SNV;PN=T;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.2626,T/0.7374;Gene=IGFN1/NM_001164586.1/1;CC=c.8-91G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:57:52:0:0:29,28:972,886:0.00,84.79:0.00,64.17:0.00,20.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,34.1:0,0:0,0:35,27:112,122:16,16:-,NM_001164586.1(IGFN1) c.8-91G>T:-,0.7:-,NOT_FOUND 1 201163402 . G . . NT END=201164966;NT GT ./. 1 201163584 rs1568809 A G 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2684,G/0.7316;Gene=IGFN1/NM_001164586.1/1;CC=c.127+183A>G;VC=Intron;DM=IGFN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,G:14:0:0:0:6,8:170,262:0.00,25.87:0.00,0.00:0.00,25.87:0.00,1.00:0.00,0.00:0.00,1.00:60,60:28.3,42.9:0,0:0,0:99,116:51,34:29,13:-,NM_001164586.1(IGFN1) c.127+183A>G:-,0.69:-,NOT_FOUND 1 201164930 rs4915219 A G 71 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.9537,G/0.04633;Gene=IGFN1/NM_001164586.1/1;CC=c.128-37A>G;VC=Intron;DM=IGFN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:39:0:0:24,22:761,746:0.00,71.27:0.00,55.20:0.00,16.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,39.5:0,0:0,0:45,43:95,106:28,22:-,NM_001164586.1(IGFN1) c.128-37A>G:-,0.04:-,0.047087 1 201165107 . G . . NT END=201166345;NT GT ./. 1 201165243 rs4915220 C T 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6727,T/0.3273;Gene=IGFN1/NM_001164586.1/1;CC=c.267+137C>T;VC=Intron;DM=IGFN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:15:0:0:0:6,9:144,299:0.00,29.86:0.00,0.00:0.00,29.86:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.3,45.8:0,0:0,0:118,72:30,77:18,19:-,NM_001164586.1(IGFN1) c.267+137C>T:-,0.37:-,NOT_FOUND 1 201166383 rs4915221 G A 88 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.2674,A/0.7326;PC=1.000;Gene=IGFN1/NM_001164586.1/1;CC=c.305G>A;ProtCh=p.R102H;VC=Missense;DM=IGFN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:40:0:0:31,31:923,1079:88.35,0.00:43.72,0.00:44.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.7,8.4:0,0:0,0:86,61:58,78:43,23:NM_001164586.1(IGFN1) c.305G>A (p.Arg102His),-:0.7,-:0.630092,- 1 201166435 rs11589317 T C 70 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.1324,C/0.8676;PC=0.040;Gene=IGFN1/NM_001164586.1/1;CC=c.357T>C;ProtCh=p.T119=;VC=Silent;DM=IGFN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:24:0:0:25,26:738,866:70.31,0.00:21.66,0.00:48.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.2,10.2:0,0:0,0:91,98:47,44:34,26:NM_001164586.1(IGFN1) c.357T>C (p.(=)),-:0.88,-:0.905388,- 1 201166446 . G . . NT END=201168461;NT GT ./. 1 201166502 . A G 56 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;Gene=IGFN1/NM_001164586.1/1;CC=c.367+57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:31:8:0:0:13,1,17:394,19,565:0.00,0.75,55.69:0.00,-0.05,4.37:0.00,0.80,51.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.2,128.0,63.1:0,0,0:0,0,0:112,38,84:36,103,66:27,0,38:-,NM_001164586.1(IGFN1) c.367+57A>G:-,NOT_FOUND:-,NOT_FOUND 1 201168499 rs1534057 G A 82 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.8015,A/0.1985;PC=0.892;Gene=IGFN1/NM_001164586.1/1;CC=c.405G>A;ProtCh=p.P135=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:37:0:0:27,26:849,871:81.80,0.00:49.52,0.00:32.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.9,11.8:0,0:0,0:82,90:69,54:19,30:NM_001164586.1(IGFN1) c.405G>A (p.(=)),-:0.18,-:0.140385,- 1 201168507 . G . . NT END=201168736;NT GT ./. 1 201168589 rs1534056 T C 59 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.7919,C/0.2081;Gene=IGFN1/NM_001164586.1/1;CC=c.412+83T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:20:0:0:19,16:601,513:58.68,0.00:30.57,0.00:28.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.1,2.1:0,0:0,0:93,104:58,47:36,37:NM_001164586.1(IGFN1) c.412+83T>C,-:0.19,-:NOT_FOUND,- 1 201168783 . G . . NT END=201169364;NT GT ./. 1 201169540 . G . . NT END=201170846;NT GT ./. 1 201169554 rs2365299 T G 78 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.7923,G/0.2077;Gene=IGFN1/NM_001164586.1/1;CC=c.633+15T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:49:23:0:1:24,25:808,744:77.51,0.00:18.84,0.00:58.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,9.3:0,0:0,0:106,82:37,67:27,31:NM_001164586.1(IGFN1) c.633+15T>G,-:0.19,-:0.14389,- 1 201170772 rs10157730 A G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.07049,G/0.9295;PC=0.017;Gene=IGFN1/NM_001164586.1/1;CC=c.634-75A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:10:10:0:0:5,5:145,123:0.00,11.66:0.00,11.66:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:10.8,64.0:0,0:0,0:18,8:132,143:10,7:-,NM_001164586.1(IGFN1) c.634-75A>G:-,0.93:-,NOT_FOUND 1 201170824 rs10158976 C G 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.07029,G/0.9297,T/.;Gene=IGFN1/NM_001164586.1/1;CC=c.634-23C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:20:0:0:12,10:414,311:0.00,29.28:0.00,23.20:0.00,6.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,50.6:0,0:0,0:45,34:103,113:18,13:-,NM_001164586.1(IGFN1) c.634-23C>G:-,0.93:-,0.917871 1 201170961 . G . . NT END=201172865;NT GT ./. 1 201173035 . G . . NT END=201174209;NT GT ./. 1 201173104 rs832160 C T 179 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.4675,T/0.5325;PC=0.002;Gene=IGFN1/NM_001164586.1/1;CC=c.916+70C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:9:0:0:47:1563:178.69:21.42:157.27:1.00:1.00:1.00:60:58.7:0:0:98:52:24:NM_001164586.1(IGFN1) c.916+70C>T,NM_001164586.1(IGFN1) c.916+70C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 201173150 rs832159 C A 97 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.9353,A/0.0647;PC=0.018;Gene=IGFN1/NM_001164586.1/1;CC=c.916+116C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:1:0:0:27:840:96.87:1.94:94.93:1.00:1.00:1.00:60:75.1:0:0:130:21:14:NM_001164586.1(IGFN1) c.916+116C>A,NM_001164586.1(IGFN1) c.916+116C>A:0.07,0.07:NOT_FOUND,NOT_FOUND 1 201174483 . G . . NT END=201175210;NT GT ./. 1 201175227 rs832156 C A 225 lc VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.237,A/0.763;PC=0.030;Gene=IGFN1/NM_001164586.1/1;CC=c.1206C>A;ProtCh=p.D402E;VC=Missense;DM=IGFN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:A:64:57:0:0:64:1948:225.04:190.90:34.14:1.00:1.00:1.00:60:41.0:0:0:46:101:30:NM_001164586.1(IGFN1) c.1206C>A (p.Asp402Glu),NM_001164586.1(IGFN1) c.1206C>A (p.Asp402Glu):0.73,0.73:0.750548,0.750548 1 201175715 rs1341631 G T 706 lc VT=SNV;PN=C;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=G/0.236,T/0.764;Gene=IGFN1/NM_001164586.1/1;CC=c.1694G>T;ProtCh=p.R565L;VC=Missense;DM=IGFN1/fn3;DM=IGFN1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:185:132:0:0:1,1,183:11,8,6193:0.07,0.03,705.54:0.07,0.03,368.49:0.00,0.00,337.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:61.0,121.0,43.3:0,0,0:0,0,0:22,132,84:126,19,61:0,0,32:NM_001164586.1(IGFN1) c.1694G>T (p.Arg565Leu),NM_001164586.1(IGFN1) c.1694G>T (p.Arg565Leu):0.73,0.73:0.75011,0.75011 1 201176018 rs10753895 A G 394 lc VT=SNV;PN=G;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.2362,G/0.7638;Gene=IGFN1/NM_001164586.1/1;CC=c.1997A>G;ProtCh=p.D666G;VC=Missense;DM=IGFN1/fn3;DM=IGFN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:108:69:0:0:1,1,106:30,9,3462:0.00,0.07,394.04:0.00,-0.00,186.43:0.00,0.07,207.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:100.0,45.0,48.9:0,0,0:0,0,0:144,116,78:-28,35,68:0,0,40:NM_001164586.1(IGFN1) c.1997A>G (p.Asp666Gly),NM_001164586.1(IGFN1) c.1997A>G (p.Asp666Gly):0.73,0.73:0.750986,0.750986 1 201178680 . A G 61 lc VT=SNV;PN=G;NN=G;SST=Single;DP=315;NP=121;Gene=IGFN1/NM_001164586.1/1;CC=c.4659A>G;ProtCh=p.G1553=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:315:232:0:0:282,33:8916,904:0.00,60.64:0.00,45.24:0.00,15.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,178.3:0,0:0,0:64,15:80,130:33,12:-,NM_001164586.1(IGFN1) c.4659A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 201178702 . G A 55 lc VT=SNV;PN=A;NN=T;SST=Single;DP=347;Gene=IGFN1/NM_001164586.1/1;CC=c.4681G>A;ProtCh=p.V1561M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:A,G,T:347:251:0:0:31,315,1:854,10301,10:55.48,0.00,-0.38:48.85,0.00,-0.19:6.63,0.00,-0.19:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:215.5,24.5,40.0:0,1,0:0,0,0:25,69,126:125,76,25:8,35,0:NM_001164586.1(IGFN1) c.4681G>A (p.Val1561Met),-:NOT_FOUND,-:NOT_FOUND,- 1 201178705 . A G 68 lc VT=SNV;PN=G;NN=A;SST=Single;DP=349;Gene=IGFN1/NM_001164586.1/1;CC=c.4684A>G;ProtCh=p.N1562D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:349:252:0:0:317,32:9818,989:0.00,67.98:0.00,57.31:0.00,10.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.7,217.5:1,0:0,0:72,28:73,122:35,8:-,NM_001164586.1(IGFN1) c.4684A>G (p.Asn1562Asp):-,NOT_FOUND:-,NOT_FOUND 1 201178708 rs200427142 A G 91 lc VT=SNV;PN=T;NN=A;SST=Single;DP=349;DB;DBA=NA;PAF=NA;PC=0.001;Gene=IGFN1/NM_001164586.1/1;CC=c.4687A>G;ProtCh=p.K1563E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:349:253:0:0:304,2,42,1:9208,23,1257,10:0.00,-0.60,90.52,-0.36:0.00,-0.44,71.75,-0.19:0.00,-0.17,18.77,-0.18:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:21.1,85.5,185.3,40.0:0,0,0,0:0,0,0,0:66,105,31,132:75,28,113,19:35,20,10,0:-,NM_001164586.1(IGFN1) c.4687A>G (p.Lys1563Glu):-,NOT_FOUND:-,NOT_FOUND 1 201178758 rs113788027 G C 156 lc VT=SNV;PN=G;NN=A;SST=Single;DP=429;DB;DBA=NA;PAF=NA;NP=798;Gene=IGFN1/NM_001164586.1/1;CC=c.4737G>C;ProtCh=p.G1579=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:429:281:0:0:1,69,359:10,2046,11055:-0.29,155.79,0.00:-0.13,115.54,0.00:-0.16,40.25,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:55,59,60:136.0,167.6,27.1:0,0,0:0,0,0:36,63,67:75,73,74:0,20,35:NM_001164586.1(IGFN1) c.4737G>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 201178788 rs66922684 A G 214 lc VT=SNV;PN=G;NN=G;SST=Single;DP=408;DB;DBA=NA;PAF=NA;NP=897;Gene=IGFN1/NM_001164586.1/1;CC=c.4767A>G;ProtCh=p.G1589=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:408:273:0:0:312,3,93:9603,34,2639:0.00,-0.65,213.70:0.00,-0.17,148.79:0.00,-0.48,64.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,25,60:23.5,77.7,148.2:0,0,0:0,0,0:66,118,91:82,33,43:33,2,21:-,NM_001164586.1(IGFN1) c.4767A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 201178836 rs367696690 C T 87 lc VT=SNV;PN=A;NN=T;SST=Single;DP=396;DB;DBA=NA;PAF=NA;NP=83;Gene=IGFN1/NM_001164586.1/1;CC=c.4815C>T;ProtCh=p.D1605=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:396:251:0:0:2,327,11,56:32,9715,155,1287:-0.00,0.00,2.31,87.30:0.30,0.00,2.70,47.88:-0.30,0.00,-0.40,39.42:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:58.5,25.4,92.5,139.4:0,0,0,0:0,0,0,0:122,70,98,116:26,75,53,19:17,37,34,23:-,NM_001164586.1(IGFN1) c.4815C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 201178844 rs201505263 T C 77 lc VT=SNV;PN=G;NN=T;SST=Single;DP=391;DB;DBA=NA;PAF=NA;Gene=IGFN1/NM_001164586.1/1;CC=c.4823T>C;ProtCh=p.V1608A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:391:254:0:0:9,48,9,325:121,1157,128,8343:0.59,77.29,1.36,0.00:2.20,59.15,1.28,0.00:-1.61,18.14,0.08,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:77.7,137.7,74.8,24.8:0,0,0,0:0,0,0,0:73,107,88,63:59,32,61,83:21,26,49,35:NM_001164586.1(IGFN1) c.4823T>C (p.Val1608Ala),-:NOT_FOUND,-:NOT_FOUND,- 1 201178904 rs201227267 A G 122 lc VT=SNV;PN=G;NN=A;SST=Single;DP=508;DB;DBA=NA;PAF=NA;NP=294;Gene=IGFN1/NM_001164586.1/1;CC=c.4883A>G;ProtCh=p.E1628G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:508:361:0:0:423,3,66,16:12257,35,1740,326:0.00,-0.81,122.28,12.45:0.00,-0.42,84.61,8.82:0.00,-0.39,37.67,3.63:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:30.5,136.0,148.8,105.9:0,1,0,0:0,0,0,0:55,55,37,94:86,86,111,30:33,9,14,26:-,NM_001164586.1(IGFN1) c.4883A>G (p.Glu1628Gly):-,NOT_FOUND:-,NOT_FOUND 1 201178924 rs6678538 A G 258 lc VT=SNV;PN=T;NN=A;SST=Single;DP=552;DB;DBA=NA;PAF=A/0.5581,G/0.4419;NP=841;Gene=IGFN1/NM_001164586.1/1;CC=c.4903A>G;ProtCh=p.K1635E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:552:403:0:0:436,115,1:12701,3256,20:0.00,258.38,-0.18:0.00,159.97,-0.01:0.00,98.42,-0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,42:30.1,133.8,32.0:0,0,0:0,0,0:59,52,122:81,92,8:33,22,0:-,NM_001164586.1(IGFN1) c.4903A>G (p.Lys1635Glu):-,NOT_FOUND:-,NOT_FOUND 1 201178926 rs6702960 G A 188 lc VT=SNV;PN=A;NN=G;SST=Single;DP=557;DB;DBA=NA;PAF=G/0.5577,A/0.4423;NP=851;Gene=IGFN1/NM_001164586.1/1;CC=c.4905G>A;ProtCh=p.K1635=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:557:409:0:0:82,474,1:2496,14928,8:188.04,0.00,-0.40:117.12,0.00,-0.22:70.92,0.00,-0.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:147.4,34.8,137.0:0,0,0:0,0,0:46,64,90:103,75,61:19,34,0:NM_001164586.1(IGFN1) c.4905G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 201178965 rs12758143 A G 429 lc VT=SNV;PN=T;NN=G;SST=Single;DP=660;DB;DBA=NA;PAF=NA;NP=887;Gene=IGFN1/NM_001164586.1/1;CC=c.4944A>G;ProtCh=p.I1648M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:660:475:0:1:486,3,169,2:14809,36,5106,21:0.00,-0.74,429.12,-0.55:0.00,-0.29,239.64,-0.32:0.00,-0.45,189.48,-0.22:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,25,60,30:33.7,82.3,127.4,199.0:0,0,0,0:0,0,0,0:66,67,49,61:75,50,86,89:32,4,31,49:-,NM_001164586.1(IGFN1) c.4944A>G (p.Ile1648Met):-,NOT_FOUND:-,NOT_FOUND 1 201179050 rs1722732 A G 567 lc VT=SNV;PN=G;NN=A;SST=Single;DP=662;DB;DBA=NA;PAF=NA;NP=786;Gene=IGFN1/NM_001164586.1/1;CC=c.5029A>G;ProtCh=p.N1677D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:662:428:0:0:423,3,229,7:11554,57,6414,90:0.00,0.75,567.05,-0.23:0.00,-0.40,267.25,-0.55:0.00,1.14,299.80,0.31:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,48,58,60:25.2,187.0,101.6,86.6:0,0,0,0:0,0,0,0:67,109,91,73:79,42,52,76:41,17,22,38:-,NM_001164586.1(IGFN1) c.5029A>G (p.Asn1677Asp):-,NOT_FOUND:-,NOT_FOUND 1 201179068 rs199816935 G A 236 lc VT=SNV;PN=G;NN=G;SST=Single;DP=667;DB;DBA=NA;PAF=NA;NP=163;Gene=IGFN1/NM_001164586.1/1;CC=c.5047G>A;ProtCh=p.G1683R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:667:436:0:0:103,563,1:3109,17517,9:235.97,0.00,-0.24:73.37,0.00,-0.12:162.60,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:53,60,25:125.0,35.8,140.0:0,0,0:0,0,0:114,67,61:34,74,74:17,35,0:NM_001164586.1(IGFN1) c.5047G>A (p.Gly1683Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 201179082 rs1772843 G A 223 lc VT=SNV;PN=G;NN=A;SST=Single;DP=680;DB;DBA=NA;PAF=NA;NP=12;Gene=IGFN1/NM_001164586.1/1;CC=c.5061G>A;ProtCh=p.G1687=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:680:447:0:0:102,575,3:2980,17866,27:222.58,0.00,-0.90:86.98,0.00,-0.50:135.60,0.00,-0.40:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,60,40:114.8,34.5,107.7:0,0,0:0,0,0:119,61,16:25,79,124:13,34,4:NM_001164586.1(IGFN1) c.5061G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 201179321 rs1772845 C G 53 lc VT=SNV;PN=G;NN=T;SST=Single;DP=212;DB;DBA=NA;PAF=NA;NP=1;Gene=IGFN1/NM_001164586.1/1;CC=c.5300C>G;ProtCh=p.A1767G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:212:98:0:0:1,177,33,1:10,5360,769,12:-0.33,0.00,53.41,-0.30:-0.20,0.00,2.99,-0.20:-0.13,0.00,50.42,-0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:35,40,40,5:53.0,28.8,100.5,68.0:0,0,0,0:0,0,0,0:20,70,27,37:131,73,96,96:0,38,26,0:-,NM_001164586.1(IGFN1) c.5300C>G (p.Ala1767Gly):-,NOT_FOUND:-,NOT_FOUND 1 201179380 rs1772844 T G 69 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=267;DB;DBA=NA;PAF=T/0.8664,G/0.1336;NP=173;Gene=IGFN1/NM_001164586.1/1;CC=c.5359T>G;ProtCh=p.W1787G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:267:195:0:0:2,42,223:23,986,6180:-0.46,68.86,0.00:-0.33,-5.39,0.00:-0.13,74.24,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:7,40,43:37.5,80.6,23.3:0,0,0:0,0,0:98,60,57:52,88,85:47,15,37:NM_001164586.1(IGFN1) c.5359T>G (p.Trp1787Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 201179598 rs71524457 T G 35 lc VT=SNV;PN=G;NN=G;SST=Single;DP=194;DB;DBA=NA;PAF=T/0.6112,G/0.3888;NP=5;Gene=IGFN1/NM_001164586.1/1;CC=c.5577T>G;ProtCh=p.G1859=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,C,G,T:194:77:0:0:2,1,21,170:28,15,534,4775:-0.22,-0.21,35.14,0.00:-0.26,-0.13,31.89,0.00:0.04,-0.08,3.25,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:24,4,40,40:144.0,159.0,131.1,31.7:0,0,0,0:0,0,0,0:61,73,79,86:89,72,56,63:1,0,29,41:NM_001164586.1(IGFN1) c.5577T>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 201179613 rs201465075 A G 47 sb,lc VT=SNV;PN=T;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=NA;NP=12;Gene=IGFN1/NM_001164586.1/1;CC=c.5592A>G;ProtCh=p.I1864M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:204:101:0:0:180,2,22:5606,17,665:0.00,-0.60,47.07:0.00,-0.19,46.25:0.00,-0.41,0.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,40,40:34.5,127.0,147.7:0,0,0:0,0,0:77,92,57:64,58,91:42,14,40:-,NM_001164586.1(IGFN1) c.5592A>G (p.Ile1864Met):-,NOT_FOUND:-,NOT_FOUND 1 201179633 rs199737720 A G 81 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=204;DB;DBA=NA;PAF=NA;NP=3;Gene=IGFN1/NM_001164586.1/1;CC=c.5612A>G;ProtCh=p.D1871G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:204:133:0:0:161,2,41:4425,22,1055:0.00,-0.44,81.08:0.00,-0.15,82.79:0.00,-0.29,-1.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,25,40:31.4,129.0,130.5:0,2,0:0,0,0:66,88,33:77,62,108:40,32,23:-,NM_001164586.1(IGFN1) c.5612A>G (p.Asp1871Gly):-,NOT_FOUND:-,NOT_FOUND 1 201179645 rs202102778 C G 90 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=7;Gene=IGFN1/NM_001164586.1/1;CC=c.5624C>G;ProtCh=p.A1875G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:215:156:0:0:1,169,44,1:13,5092,1162,9:-0.26,0.00,90.28,-0.33:-0.14,0.00,90.24,-0.20:-0.12,0.00,0.05,-0.12:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:35,40,40,33:25.0,33.1,126.7,45.0:0,0,0,0:0,0,0,0:78,59,41,60:73,82,108,90:0,40,29,0:-,NM_001164586.1(IGFN1) c.5624C>G (p.Ala1875Gly):-,NOT_FOUND:-,NOT_FOUND 1 201179704 rs371932052 T G 100 lc VT=SNV;PN=G;NN=G;SST=Single;DP=256;DB;DBA=NA;PAF=NA;NP=249;Gene=IGFN1/NM_001164586.1/1;CC=c.5683T>G;ProtCh=p.W1895G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:256:238:0:0:2,2,48,204:21,25,1300,5431:-0.52,-0.42,99.95,0.00:-0.46,-0.36,85.81,0.00:-0.06,-0.06,14.14,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:40,40,42,43:181.5,49.5,112.6,25.6:1,0,0,0:0,0,0,0:89,118,82,55:60,32,65,89:24,25,18,36:NM_001164586.1(IGFN1) c.5683T>G (p.Trp1895Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 201179716 rs376205662 G A 69 lc VT=SNV;PN=G;NN=G;SST=Single;DP=293;DB;DBA=NA;PAF=NA;NP=119;Gene=IGFN1/NM_001164586.1/1;CC=c.5695G>A;ProtCh=p.G1899R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:293:267:0:0:33,260:974,7857:68.62,0.00:61.98,0.00:6.64,0.00:1.00,0.00:1.00,0.00:0.99,0.00:28,43:129.7,28.7:0,0:0,0:85,46:57,102:15,34:NM_001164586.1(IGFN1) c.5695G>A (p.Gly1899Arg),-:NOT_FOUND,-:NOT_FOUND,- 1 201179896 rs200323360 A G 90 lc VT=SNV;PN=T;NN=A;SST=Single;DP=474;DB;DBA=NA;PAF=A/0.9353,G/0.0647;NP=1;Gene=IGFN1/NM_001164586.1/1;CC=c.5875A>G;ProtCh=p.K1959E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:474:269:0:0:410,5,56,3:11043,62,1369,29:0.00,-1.00,90.33,-0.89:0.00,-0.28,47.94,-0.36:0.00,-0.72,42.39,-0.53:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,57,54,40:33.9,126.4,120.7,157.3:0,0,0,0:0,0,0,0:76,57,77,102:68,93,58,47:36,32,28,25:-,NM_001164586.1(IGFN1) c.5875A>G (p.Lys1959Glu):-,NOT_FOUND:-,NOT_FOUND 1 201179954 rs77885442 A C 72 lc VT=SNV;PN=G;NN=A;SST=Single;DP=476;DB;DBA=NA;PAF=A/0.8027,C/0.1973;NP=1;Gene=IGFN1/NM_001164586.1/1;CC=c.5933A>C;ProtCh=p.E1978A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C,G,T:476:309:0:0:421,44,9,2:12063,1134,105,24:0.00,72.22,-1.20,-0.59:0.00,60.39,-0.67,-0.21:0.00,11.83,-0.52,-0.38:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,44,60,42:37.7,131.1,100.0,121.0:1,0,0,0:0,0,0,0:76,68,54,108:66,63,92,33:34,23,22,31:-,NM_001164586.1(IGFN1) c.5933A>C (p.Glu1978Ala):-,NOT_FOUND:-,NOT_FOUND 1 201180069 rs4915222 C T 56 lc VT=SNV;PN=T;NN=A;SST=Single;DP=444;DB;DBA=NA;PAF=NA;Gene=IGFN1/NM_001164586.1/1;CC=c.6048C>T;ProtCh=p.F2016=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,C,G,T:444:267:0:0:2,388,5,49:25,11892,57,976:-0.60,0.00,-1.09,56.21:-0.14,0.00,-0.27,32.02:-0.47,0.00,-0.83,24.19:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:50,60,59,60:63.0,65.2,154.2,128.7:0,0,0,0:0,0,0,0:108,81,100,101:31,56,51,37:11,30,2,28:-,NM_001164586.1(IGFN1) c.6048C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 201180100 rs4915223 C G 158 lc VT=SNV;PN=G;NN=G;SST=Single;DP=402;DB;DBA=NA;PAF=NA;NP=121;NP=62;Gene=IGFN1/NM_001164586.1/1;CC=c.6079C>G;ProtCh=p.R2027G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:402:249:0:0:2,322,73,5:21,9178,2050,63:-0.58,0.00,158.19,-0.64:-0.18,0.00,117.45,-0.18:-0.39,0.00,40.75,-0.45:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,57,56:63.5,85.1,92.1,167.0:0,0,0,0:0,0,0,0:107,96,23,104:38,43,114,45:12,30,19,5:-,NM_001164586.1(IGFN1) c.6079C>G (p.Arg2027Gly):-,NOT_FOUND:-,NOT_FOUND 1 201180145 rs12022767 G A 419 lc VT=SNV;PN=T;NN=A;SST=Single;DP=376;DB;DBA=NA;PAF=G/0.5829,A/0.4171;NP=300;Gene=IGFN1/NM_001164586.1/1;CC=c.6124G>A;ProtCh=p.E2042K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:376:239:0:0:158,2,213,3:4540,27,6681,29:418.96,-0.20,0.00,-0.51:155.72,-0.07,0.00,-0.34:263.24,-0.13,0.00,-0.17:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,46,60,46:166.2,55.0,37.3,81.3:0,0,0,0:0,0,0,0:104,90,33,74:38,55,111,77:22,58,16,45:NM_001164586.1(IGFN1) c.6124G>A (p.Glu2042Lys),-:NOT_FOUND,-:NOT_FOUND,- 1 201180148 rs145517342 A G 421 lc VT=SNV;PN=G;NN=G;SST=Single;DP=374;DB;DBA=NA;PAF=A/0.5807,G/0.4193;NP=303;Gene=IGFN1/NM_001164586.1/1;CC=c.6127A>G;ProtCh=p.R2043G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:374:240:0:0:224,150:6655,4587:0.00,420.85:0.00,170.97:0.00,249.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,165.5:0,0:0,0:32,106:111,36:17,21:-,NM_001164586.1(IGFN1) c.6127A>G (p.Arg2043Gly):-,NOT_FOUND:-,NOT_FOUND 1 201180153 rs12029808 A G 379 lc VT=SNV;PN=T;NN=G;SST=Single;DP=383;DB;DBA=NA;PAF=NA;NP=19;Gene=IGFN1/NM_001164586.1/1;CC=c.6132A>G;ProtCh=p.I2044M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:383:242:0:0:243,3,137:7243,20,4218:0.00,-0.72,379.38:0.00,-0.47,153.98:0.00,-0.25,225.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:31.9,200.7,172.1:0,0,0:0,0,0:36,58,110:109,93,34:19,5,20:-,NM_001164586.1(IGFN1) c.6132A>G (p.Ile2044Met):-,NOT_FOUND:-,NOT_FOUND 1 201180162 rs12029809 A C 286 lc VT=SNV;PN=G;NN=A;SST=Single;DP=390;DB;DBA=NA;PAF=NA;Gene=IGFN1/NM_001164586.1/1;CC=c.6141A>C;ProtCh=p.G2047=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:390:241:0:0:266,110,14:7734,3325,261:0.00,286.37,10.16:0.00,83.37,4.25:0.00,203.00,5.91:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,55:35.0,189.7,105.0:0,0,0:0,0,0:41,117,68:102,27,66:21,18,29:-,NM_001164586.1(IGFN1) c.6141A>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 201180172 rs12022770 G A 237 lc VT=SNV;PN=A;NN=G;SST=Single;DP=416;DB;DBA=NA;PAF=NA;PC=0.003;Gene=IGFN1/NM_001164586.1/1;CC=c.6151G>A;ProtCh=p.G2051S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:416:264:0:0:96,320:2891,10096:237.44,0.00:57.57,0.00:179.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:203.8,41.2:0,0:0,0:117,52:28,91:17,24:NM_001164586.1(IGFN1) c.6151G>A (p.Gly2051Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 201180193 rs59199921 A G 163 lc VT=SNV;PN=G;NN=G;SST=Single;DP=407;DB;DBA=NA;PAF=NA;Gene=IGFN1/NM_001164586.1/1;CC=c.6172A>G;ProtCh=p.S2058G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:407:256:0:0:329,1,75,2:10211,7,2113,21:0.00,-0.28,163.17,-0.59:0.00,-0.15,39.90,-0.38:0.00,-0.12,123.27,-0.21:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,16,60,60:30.9,181.0,205.5,103.0:0,0,0,0:0,0,0,0:58,25,123,64:82,126,26,66:24,0,17,16:-,NM_001164586.1(IGFN1) c.6172A>G (p.Ser2058Gly):-,NOT_FOUND:-,NOT_FOUND 1 201180200 rs12026461 T G 121 lc VT=SNV;PN=G;NN=A;SST=Single;DP=403;DB;DBA=NA;PAF=NA;Gene=IGFN1/NM_001164586.1/1;CC=c.6179T>G;ProtCh=p.V2060G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:403:249:0:0:6,6,64,327:87,68,1654,8956:0.23,-0.95,120.87,0.00:-0.46,-0.36,19.22,0.00:0.68,-0.59,101.65,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:83.0,86.2,194.7,29.4:0,0,0,0:0,0,0,0:26,88,120,58:124,62,30,83:20,19,16,26:NM_001164586.1(IGFN1) c.6179T>G (p.Val2060Gly),-:NOT_FOUND,-:NOT_FOUND,- 1 201180415 rs34808481 A G 73 lc VT=SNV;PN=T;NN=C;SST=Single;DP=486;DB;DBA=NA;PAF=NA;Gene=IGFN1/NM_001164586.1/1;CC=c.6394A>G;ProtCh=p.T2132A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:486:324:0:0:421,2,60,3:11272,25,1218,27:0.00,-0.55,73.45,-0.94:0.00,-0.26,25.25,-0.44:0.00,-0.29,48.20,-0.51:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:24.8,63.5,126.3,88.0:0,0,0,0:0,0,0,0:63,102,56,116:78,48,82,33:33,39,25,21:-,NM_001164586.1(IGFN1) c.6394A>G (p.Thr2132Ala):-,NOT_FOUND:-,NOT_FOUND 1 201180485 rs371677542 A G 211 lc VT=SNV;PN=G;NN=G;SST=Single;DP=588;DB;DBA=NA;PAF=NA;NP=256;Gene=IGFN1/NM_001164586.1/1;CC=c.6464A>G;ProtCh=p.E2155G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:588:345:0:0:474,3,108,3:14008,41,2801,37:0.00,-0.59,211.10,-0.75:0.00,-0.34,72.88,-0.32:0.00,-0.25,138.22,-0.43:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,59:27.6,61.7,109.6,78.0:2,0,0,0:0,0,0,0:68,127,79,89:73,15,59,62:37,9,27,48:-,NM_001164586.1(IGFN1) c.6464A>G (p.Glu2155Gly):-,NOT_FOUND:-,NOT_FOUND 1 201180570 . A G 83 lc VT=SNV;PN=G;NN=G;SST=Single;DP=496;NP=3;Gene=IGFN1/NM_001164586.1/1;CC=c.6549A>G;ProtCh=p.G2183=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,G,T:496:295:0:1:442,51,3:13042,1289,35:0.00,82.95,-0.86:0.00,13.05,-0.50:0.00,69.89,-0.36:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,57:27.0,114.0,80.0:0,0,0:0,0,0:75,107,45:67,35,106:33,34,16:-,NM_001164586.1(IGFN1) c.6549A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 201181223 rs12070919 A G 587 lc VT=SNV;PN=A;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.001997,G/0.998;NP=909;Gene=IGFN1/NM_001164586.1/1;CC=c.7202A>G;ProtCh=p.N2401S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:153:107:0:0:153:5139:586.67:324.07:262.60:1.00:1.00:1.00:60:45.7:0:0:68:82:36:NM_001164586.1(IGFN1) c.7202A>G (p.Asn2401Ser),NM_001164586.1(IGFN1) c.7202A>G (p.Asn2401Ser):1,1:0.994744,0.994744 1 201182750 . G . . NT END=201183304;NT GT ./. 1 201183430 . G . . NT END=201184140;NT GT ./. 1 201184283 . G . . NT END=201184666;NT GT ./. 1 201184967 . G . . NT END=201185581;NT GT ./. 1 201185882 . G . . NT END=201186414;NT GT ./. 1 201186589 . G . . NT END=201187657;NT GT ./. 1 201187787 . G . . NT END=201190571;NT GT ./. 1 201190875 . G . . NT END=201191866;NT GT ./. 1 201191956 . G . . NT END=201193806;NT GT ./. 1 201193668 rs6687494 G T 59 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=IGFN1/NM_001164586.1/1;CC=c.10291-139G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:15:0:0:15:515:58.65:58.65:0.00:1.00:1.00:0.00:60:43.0:0:0:58:92:41:NM_001164586.1(IGFN1) c.10291-139G>T,NM_001164586.1(IGFN1) c.10291-139G>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 201194003 . G . . NT END=201194951;NT GT ./. 1 201194174 rs12134361 A G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.06889,G/0.9311;Gene=IGFN1/NM_001164586.1/1;CC=c.10486+172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,G:5:0:0:0:1,4:5,128:0.32,14.32:0.00,0.00:0.32,14.32:0.00,0.96:0.00,0.00:0.00,0.96:60,60:186.0,45.2:0,0:0,0:66,118:85,32:0,20:NM_001164586.1(IGFN1) c.10486+172A>G,NM_001164586.1(IGFN1) c.10486+172A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 201194248 rs940584 G A 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.07069,A/0.9293;Gene=IGFN1/NM_001164586.1/1;CC=c.10486+246G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:97:11.55:0.00:11.55:1.00:0.00:1.00:60:104.2:0:0:79:61:19:NM_001164586.1(IGFN1) c.10486+246G>A,NM_001164586.1(IGFN1) c.10486+246G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 201194581 rs1815136 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4073,T/0.5927;Gene=IGFN1/NM_001164586.1/1;CC=c.10487-371C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,T:4:4:0:0:1,3:12,82:0.00,8.68:0.00,8.68:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:61.0,117.0:0,0:0,0:132,48:19,103:0,40:-,NM_001164586.1(IGFN1) c.10487-371C>T:-,0.64:-,NOT_FOUND 1 201195119 rs3738270 C T 504 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.4323,T/0.5677;PC=1.000;Gene=IGFN1/NM_001164586.1/1;CC=c.10654C>T;ProtCh=p.H3552Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:133:93:0:0:133:4408:504.08:287.42:216.66:1.00:1.00:1.00:60:42.3:0:0:87:62:36:NM_001164586.1(IGFN1) c.10654C>T (p.His3552Tyr),NM_001164586.1(IGFN1) c.10654C>T (p.His3552Tyr):0.61,0.61:0.540674,0.540674 1 201195252 . G . . NT END=201196009;NT GT ./. 1 201195437 rs4915498 T A 63 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.06809,A/0.9319;Gene=IGFN1/NM_001164586.1/1;CC=c.10786+186T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:1:0:0:17:544:62.51:1.89:60.62:1.00:1.00:1.00:60:42.0:0:0:121:30:12:NM_001164586.1(IGFN1) c.10786+186T>A,NM_001164586.1(IGFN1) c.10786+186T>A:0.93,0.93:NOT_FOUND,NOT_FOUND 1 201195456 rs11435480 C CT 47 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.06809,CT/0.9319;NP=83;Gene=IGFN1/NM_001164586.1/1;CC=c.10786+205_10786+206insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C,CT:15:0:14:0:1,14:31,422:0.00,47.28:0.00,0.00:0.00,47.28:0.00,1.00:0.00,0.00:0.00,1.00:60,60:94.0,35.9:0,0:0,0:149,120:2,30:0,23:NM_001164586.1(IGFN1) c.10786+205_10786+206insT,NM_001164586.1(IGFN1) c.10786+205_10786+206insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 201196337 . G . . NT END=201197513;NT GT ./. 1 201196559 rs397982617 GT G 12 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GT/0.3217,G/0.6783;DB;DBA=NA;PAF=GT/0.3217,G/0.6783;NP=373;PC=0.003;Gene=IGFN1/NM_001164586.1/1;CC=c.11113+236delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:GT,G:8:1:0:4:4,4:130,129:0.00,12.40:0.00,3.48:0.00,8.92:0.00,0.87:0.00,0.67:0.00,0.99:60,60:19.8,19.0:0,0:0,0:137,72:14,78:2,13:-,NM_001164586.1(IGFN1) c.11113+224delT:-,NOT_FOUND:-,NOT_FOUND 1 201197299 rs3753970 G A 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7768,A/0.2232;Gene=IGFN1/NM_001164586.1/1;CC=c.11114-215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,G:8:8:0:0:3,5:74,155:6.51,0.00:6.51,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:65.0,37.0:0,0:0,0:59,53:91,97:46,27:NM_001164586.1(IGFN1) c.11114-215G>A,-:0.26,-:NOT_FOUND,- 1 201197331 rs3753971 G A 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2907,A/0.7093;Gene=IGFN1/NM_001164586.1/1;CC=c.11114-183G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,G:13:13:0:0:8,5:237,145:23.72,0.00:23.72,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.8,54.0:0,0:0,0:71,23:78,125:31,19:NM_001164586.1(IGFN1) c.11114-183G>A,-:0.67,-:NOT_FOUND,- 1 201197358 rs3753972 G C 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7784,C/0.2216;Gene=IGFN1/NM_001164586.1/1;CC=c.11114-156G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,G:14:14:0:0:6,8:180,277:16.69,0.00:16.69,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:59.3,32.1:0,0:0,0:51,54:98,96:20,33:NM_001164586.1(IGFN1) c.11114-156G>C,-:0.26,-:NOT_FOUND,- 1 201197471 rs3753973 T C 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.7788,C/0.2212;Gene=IGFN1/NM_001164586.1/1;CC=c.11114-43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:26:0:0:13,21:404,639:36.77,0.00:15.28,0.00:21.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,4.0:0,0:0,0:50,48:86,90:26,21:NM_001164586.1(IGFN1) c.11114-43T>C,-:0.26,-:0.261572,- 1 201197528 . C . . NT END=201252830;NT GT ./. 1 201197781 rs14061 C T 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7786,T/0.2214;Gene=IGFN1/NM_001164586.1/1;CC=c.*254C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:6:0:0:0:1,5:35,114:0.00,12.48:0.00,0.00:0.00,12.48:0.00,0.99:0.00,0.00:0.00,0.99:60,60:22.0,56.0:0,0:0,0:144,86:7,64:0,19:-,NM_001164586.1(IGFN1) c.*254C>T:-,0.26:-,NOT_FOUND 1 201252701 rs861275 A T 114 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.3864,T/0.6136;Gene=PKP1/NM_000299.3/1;CC=c.-130A>T;VC=5UTR;Gene=PKP1/NM_001005337.2/0;CC=c.-130A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:31:0:0:31:991:113.80:110.08:3.73:1.00:1.00:1.00:60:40.3:0:0:56:95:31:NM_000299.3(PKP1) c.-130A>T,NM_000299.3(PKP1) c.-130A>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 201253033 . G . . NT END=201263069;NT GT ./. 1 201254259 rs832163 T G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3878,G/0.6122;Gene=PKP1/NM_000299.3/1;CC=c.202+1227T>G;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.202+1227T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:G,T:5:5:0:0:4,1:97,14:10.48,0.00:10.48,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:46.2,190.0:0,0:0,0:80,150:69,1:60,0:NM_000299.3(PKP1) c.202+1227T>G,-:0.66,-:NOT_FOUND,- 1 201263174 . G . . NT END=201282293;NT GT ./. 1 201263330 rs1779301 C G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.889,G/0.111;Gene=PKP1/NM_000299.3/1;CC=c.306+157C>G;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.306+157C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,G,T:8:0:0:0:4,3,1:125,104,10:0.00,9.74,0.40:0.00,0.00,0.00:0.00,9.74,0.40:0.00,0.67,0.00:0.00,0.00,0.00:0.00,0.67,0.00:60,60,60:10.8,47.3,129.0:0,0,0:0,0,0:107,99,96:44,51,55:23,9,0:-,NM_000299.3(PKP1) c.306+157C>G:-,0.13:-,NOT_FOUND 1 201282167 rs1772860 C G 121 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.4956,G/0.5044;Gene=PKP1/NM_000299.3/1;CC=c.307-127C>G;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.307-127C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:32:0:0:32:1061:121.27:121.27:0.00:1.00:1.00:0.00:60:36.8:0:0:64:86:26:NM_000299.3(PKP1) c.307-127C>G,NM_000299.3(PKP1) c.307-127C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 201282689 . G . . NT END=201285680;NT GT ./. 1 201285759 rs1779297 A G 311 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.03055,A/0.9694,C/.;PC=1.000;Gene=PKP1/NM_000299.3/1;CC=c.780A>G;ProtCh=p.K260=;VC=Silent;Gene=PKP1/NM_001005337.2/0;CC=c.780A>G;ProtCh=p.K260=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:54:0:0:83:2718:311.20:139.76:171.44:1.00:1.00:1.00:60:38.0:0:0:70:79:37:NM_000299.3(PKP1) c.=,NM_000299.3(PKP1) c.=:0.98,0.98:0.966554,0.966554 1 201285826 . G . . NT END=201286699;NT GT ./. 1 201285909 rs1534051 A G 151 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.1885,G/0.8115;Gene=PKP1/NM_000299.3/1;CC=c.846+84A>G;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.846+84A>G;VC=Intron;DM=PKP1/Arm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:20:0:0:42:1313:151.27:39.76:111.51:1.00:1.00:1.00:60:37.6:0:0:102:45:29:NM_000299.3(PKP1) c.846+84A>G,NM_000299.3(PKP1) c.846+84A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 201286614 rs11336457 GA G 116 rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=2366;PC=0.313;Gene=PKP1/NM_000299.3/1;CC=c.847-76delA;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.847-76delA;VC=Intron;DM=PKP1/Arm;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GA,G:39:38:0:35:4,35:116,1049:0.00,115.98:0.00,105.85:0.00,10.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,44.8:0,0:0,0:103,52:45,99:39,24:-,NM_000299.3(PKP1) c.847-85delA:-,NOT_FOUND:-,NOT_FOUND 1 201286628 rs1772823 C G 187 nt VT=SNV;PN=A;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.2065,G/0.7935;Gene=PKP1/NM_000299.3/1;CC=c.847-72C>G;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.847-72C>G;VC=Intron;DM=PKP1/Arm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:129:G,T:50:46:0:0:49,1:1636,11:186.53,0.22:156.24,0.22:30.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,104.0:0,0:0,0:44,86:106,65:33,0:NM_000299.3(PKP1) c.847-72C>G,NM_000299.3(PKP1) c.847-72C>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 201286908 . G . . NT END=201287745;NT GT ./. 1 201287529 rs916398 T C 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4956,C/0.5044;Gene=PKP1/NM_000299.3/1;CC=c.1055-217T>C;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1055-217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:342:39.44:39.44:0.00:1.00:1.00:0.00:60:46.3:0:0:44:106:20:NM_000299.3(PKP1) c.1055-217T>C,NM_000299.3(PKP1) c.1055-217T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 201287924 . G . . NT END=201288943;NT GT ./. 1 201288007 rs1794868 G A 143 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.2063,A/0.7937;Gene=PKP1/NM_000299.3/1;CC=c.1232+84G>A;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1232+84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:A:38:7:0:0:38:1248:142.88:17.31:125.57:1.00:1.00:1.00:60:44.8:0:0:129:21:14:NM_000299.3(PKP1) c.1232+84G>A,NM_000299.3(PKP1) c.1232+84G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 201288249 rs570261035 TATC T 18 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TATC/0.2071,T/0.7929;DB;DBA=NA;PAF=TATC/0.2071,T/0.7929;NP=16;PC=0.844;Gene=PKP1/NM_000299.3/1;CC=c.1232+330_1232+332delATC;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1232+330_1232+332delATC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:5:5:158:18.18:0.00:18.18:1.00:0.00:1.00:60:8.6:0:0:96:54:40:NM_000299.3(PKP1) c.1232+327_1232+329delATC,NM_000299.3(PKP1) c.1232+327_1232+329delATC:0.85,0.85:NOT_FOUND,NOT_FOUND 1 201288898 rs1722759 A C 268 nt VT=SNV;PN=G;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.01058,C/0.9894;NP=3461;PC=0.014;Gene=PKP1/NM_000299.3/1;CC=c.1233-46A>C;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1233-497A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:69:62:0:0:69:2351:267.96:196.30:71.66:1.00:1.00:1.00:60:42.8:0:0:49:90:26:NM_000299.3(PKP1) c.1233-46A>C,NM_000299.3(PKP1) c.1233-46A>C:0.99,0.99:0.987544,0.987544 1 201289007 . G . . NT END=201289394;NT GT ./. 1 201289510 . G . . NT END=201291105;NT GT ./. 1 201289646 rs1628711 T C 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.2069,C/0.7931;Gene=PKP1/NM_000299.3/1;CC=c.1410+137T>C;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1347+137T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:368:42.05:0.00:42.05:1.00:0.00:1.00:60:50.4:0:0:84:66:25:NM_000299.3(PKP1) c.1410+137T>C,NM_000299.3(PKP1) c.1410+137T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 201290968 rs1779292 T G 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.01058,G/0.9894;NP=2513;Gene=PKP1/NM_000299.3/1;CC=c.1411-138T>G;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1348-138T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:21:0:0:21:671:77.05:77.05:0.00:1.00:1.00:0.00:60:55.2:0:0:58:91:43:NM_000299.3(PKP1) c.1411-138T>G,NM_000299.3(PKP1) c.1411-138T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 201291066 rs2071960 C T 209 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.3714,T/0.6286;Gene=PKP1/NM_000299.3/1;CC=c.1411-40C>T;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1348-40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:T:57:49:0:0:57:1821:209.18:149.22:59.96:1.00:1.00:1.00:60:43.6:0:0:35:116:30:NM_000299.3(PKP1) c.1411-40C>T,NM_000299.3(PKP1) c.1411-40C>T:0.66,0.66:0.604875,0.604875 1 201291262 . G . . NT END=201292140;NT GT ./. 1 201291551 rs1772833 G A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.05611,A/0.9439;Gene=PKP1/NM_000299.3/1;CC=c.1566+290G>A;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1503+290G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A:6:0:0:0:6:149:17.63:0.00:17.63:1.00:0.00:1.00:60:50.3:0:0:85:66:30:NM_000299.3(PKP1) c.1566+290G>A,NM_000299.3(PKP1) c.1566+290G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 201292110 rs1779288 T C 205 nt VT=SNV;PN=A;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.01058,C/0.9894;NP=3463;Gene=PKP1/NM_000299.3/1;CC=c.1567-31T>C;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1504-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:51:0:0:55:1789:205.07:150.68:54.39:1.00:1.00:1.00:60:44.2:0:0:38:106:28:NM_000299.3(PKP1) c.1567-31T>C,NM_000299.3(PKP1) c.1567-31T>C:0.99,0.99:0.987929,0.987929 1 201292318 . G . . NT END=201293555;NT GT ./. 1 201292488 rs2239845 C T 36 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3712,T/0.6288;PC=0.033;Gene=PKP1/NM_000299.3/1;CC=c.1743+171C>T;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1680+171C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:317:36.46:0.00:36.46:1.00:0.00:1.00:60:37.0:0:0:123:27:16:NM_000299.3(PKP1) c.1743+171C>T,NM_000299.3(PKP1) c.1743+171C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 201293512 rs398074571 TG T 165 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=TG/0.4712,T/0.5288;DB;DBA=NA;PAF=TG/0.4712,T/0.5288;DB;DBA=NA;PAF=TG/0.4712,T/0.5288;NP=2751;Gene=PKP1/NM_000299.3/1;CC=c.1744-41delG;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1681-41delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:TG,T:47:46:0:46:1,46:23,1450:0.00,164.86:0.00,135.02:0.00,29.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:93.0,5.0:0,0:0,0:148,60:3,89:0,31:NM_000299.3(PKP1) c.1744-43delG,NM_000299.3(PKP1) c.1744-43delG:0.57,0.57:0.487698,0.487698 1 201293710 . G . . NT END=201294068;NT GT ./. 1 201293970 rs1620046 C T 172 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.05551,T/0.9445;Gene=PKP1/NM_000299.3/1;CC=c.1898-99C>T;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1835-99C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:36:0:0:44:1509:171.88:134.65:37.23:1.00:1.00:1.00:60:75.9:0:0:61:89:41:NM_000299.3(PKP1) c.1898-99C>T,NM_000299.3(PKP1) c.1898-99C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 201293985 rs854505 G A 190 nt VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.3133,A/0.6867;Gene=PKP1/NM_000299.3/1;CC=c.1898-84G>A;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.1835-84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A:53:48:0:0:53:1648:189.91:160.73:29.18:1.00:1.00:1.00:60:73.6:0:0:55:96:41:NM_000299.3(PKP1) c.1898-84G>A,NM_000299.3(PKP1) c.1898-84G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 201294256 . G . . NT END=201294881;NT GT ./. 1 201294592 rs1722740 T C 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.01058,C/0.9894;NP=171;Gene=PKP1/NM_000299.3/1;CC=c.2085-290T>C;VC=Intron;Gene=PKP1/NM_001005337.2/0;CC=c.2022-290T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:6:0:0:9:275:31.78:20.62:11.16:1.00:1.00:1.00:60:43.0:0:0:96:55:52:NM_000299.3(PKP1) c.2085-290T>C,NM_000299.3(PKP1) c.2085-290T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 201294967 . G . . NT END=201297889;NT GT ./. 1 201297965 . G . . NT END=201328337;NT GT ./. 1 201306897 rs60158182 TCA T 9 sb,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TCA,T:4:5:0:4:1,3:33,111:0.00,9.37:0.00,8.96:0.00,0.40:0.00,0.78:0.00,0.78:0.00,0.94:60,60:0.0,14.0:0,1:0,0:123,21:28,126:0,7:-,chr1 g.201306898_201306899delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 201328384 . C . . NT END=201328750;NT GT ./. 1 201328792 . C . . NT END=201330406;NT GT ./. 1 201330498 . C . . NT END=201331040;NT GT ./. 1 201331151 . C . . NT END=201331513;NT GT ./. 1 201331523 . C . . NT END=201332275;NT GT ./. 1 201331554 rs1104859 T G 209 nt VT=SNV;PN=A;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.2578,G/0.7422;PC=1.000;Gene=TNNT2/NM_000364.3/0;CC=c.601-404A>C;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.571-311A>C;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.571-404A>C;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.557-399A>C;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.601-311A>C;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.481-404A>C;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.571-311A>C;VC=Intron;DM=TNNT2/Troponin;DM=TNNT2/Troponin;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:G:54:23:0:0:54:1837:209.44:64.97:144.47:1.00:1.00:1.00:60:47.6:0:0:96:52:28:NM_000364.2(TNNT2) c.601-404A>C,NM_000364.2(TNNT2) c.601-404A>C:0.72,0.72:0.734123,0.734123 1 201331664 rs2365652 C A 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4804,A/0.5196,G/.;Gene=TNNT2/NM_000364.3/0;CC=c.601-514G>T;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.571-421G>T;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.571-514G>T;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.557-509G>T;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.601-421G>T;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.481-514G>T;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.571-421G>T;VC=Intron;DM=TNNT2/Troponin;DM=TNNT2/Troponin;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:0:0:0:22:675:77.96:0.00:77.96:1.00:0.00:1.00:60:64.9:0:0:114:37:26:NM_000364.2(TNNT2) c.601-514G>T,NM_000364.2(TNNT2) c.601-514G>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201332020 rs1892027 T C 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2578,C/0.7422;Gene=TNNT2/NM_000364.3/0;CC=c.600+404A>G;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.570+404A>G;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.570+404A>G;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.556+403A>G;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.600+404A>G;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.480+404A>G;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.570+404A>G;VC=Intron;DM=TNNT2/Troponin;DM=TNNT2/Troponin;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:273:31.11:31.11:0.00:1.00:1.00:0.00:60:44.0:0:0:48:103:12:NM_000364.2(TNNT2) c.600+404A>G,NM_000364.2(TNNT2) c.600+404A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 201332282 . A . . NT END=201332423;NT GT ./. 1 201332535 . C . . NT END=201333425;NT GT ./. 1 201333504 . C . . NT END=201334318;NT GT ./. 1 201334382 rs3729547 G A 334 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=in-clinvar;PAF=G/0.3049,A/0.6951,C/.;PC=0.994;Gene=TNNT2/NM_000364.3/0;CC=c.348C>T;ProtCh=p.I116=;VC=Silent;Gene=TNNT2/NM_001001430.2/0;CC=c.318C>T;ProtCh=p.I106=;VC=Silent;Gene=TNNT2/NM_001001431.2/0;CC=c.318C>T;ProtCh=p.I106=;VC=Silent;Gene=TNNT2/NM_001001432.2/0;CC=c.303C>T;ProtCh=p.I101=;VC=Silent;Gene=TNNT2/NM_001276345.1/1;CC=c.348C>T;ProtCh=p.I116=;VC=Silent;Gene=TNNT2/NM_001276346.1/0;CC=c.291+356C>T;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.318C>T;ProtCh=p.I106=;VC=Silent;DM=TNNT2/Troponin;DM=TNNT2/Troponin;DM=TNNT2/Troponin;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:88:71:0:0:88:2918:333.67:195.55:138.12:1.00:1.00:1.00:60:37.5:0:0:60:86:29:NM_000364.2(TNNT2) c.348C>T (p.(=)),NM_000364.2(TNNT2) c.348C>T (p.(=)):0.67,0.67:0.682762,0.682762 1 201334436 . C . . NT END=201334737;NT GT ./. 1 201335491 rs3841823 GC G 531 rn VT=DEL;SST=Single;DP=163;DB;DBA=NA;PAF=GC/0.1909,G/0.8091;NP=8;Gene=TNNT2/NM_000364.3/0;CC=c.233+474delG;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.203+474delG;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.203+474delG;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.188+474delG;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.233+474delG;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.230+474delG;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.203+474delG;VC=Intron;DM=TNNT2/Troponin;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:GC,G:163:108:0:155:10,153:305,4741:0.00,530.81:0.00,265.15:0.00,265.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,8.2:0,0:0,0:142,59:8,88:1,30:NM_000364.2(TNNT2) c.233+474delG,NM_000364.2(TNNT2) c.233+474delG:0.79,0.79:NOT_FOUND,NOT_FOUND 1 201335899 rs1573230 C T 451 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.01857,T/0.9814;Gene=TNNT2/NM_000364.3/0;CC=c.233+67G>A;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.203+67G>A;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.203+67G>A;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.188+67G>A;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.233+67G>A;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.230+67G>A;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.203+67G>A;VC=Intron;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:119:86:0:0:119:3948:451.43:230.92:220.51:1.00:1.00:1.00:60:41.4:0:0:84:61:29:NM_000364.2(TNNT2) c.233+67G>A,NM_000364.2(TNNT2) c.233+67G>A:0.99,0.99:0.976128,0.976128 1 201336000 . C . . NT END=201336898;NT GT ./. 1 201336386 rs10800775 T C 12 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1909,C/0.8091;Gene=TNNT2/NM_000364.3/0;CC=c.200-387A>G;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.170-387A>G;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.170-387A>G;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.155-387A>G;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.200-387A>G;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.197-387A>G;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.170-387A>G;VC=Intron;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:104:12.29:1.96:10.33:1.00:1.00:1.00:60:61.8:0:0:93:37:22:NM_000364.2(TNNT2) c.200-387A>G,NM_000364.2(TNNT2) c.200-387A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 201336641 rs1892028 G A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.482,A/0.518;Gene=TNNT2/NM_000364.3/0;CC=c.199+258C>T;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.169+258C>T;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.169+258C>T;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.154+258C>T;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.199+258C>T;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.196+258C>T;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.169+258C>T;VC=Intron;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:169:19.69:19.69:0.00:1.00:1.00:0.00:60:42.0:0:0:45:105:9:NM_000364.2(TNNT2) c.199+258C>T,NM_000364.2(TNNT2) c.199+258C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201336935 . C . . NT END=201337289;NT GT ./. 1 201336984 rs3729843 C T 188 nt VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.7145,A/.,T/0.2855;Gene=TNNT2/NM_000364.3/0;CC=c.164-50G>A;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.134-50G>A;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.134-50G>A;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.119-50G>A;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.164-50G>A;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.164-53G>A;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.134-50G>A;VC=Intron;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:G,T:57:29:0:0:1,56:10,1616:0.17,187.52:0.00,71.82:0.17,115.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:149.0,37.3:0,0:0,0:43,86:107,49:0,31:NM_000364.2(TNNT2) c.164-50G>A,NM_000364.2(TNNT2) c.164-50G>A:0.3,0.3:0.326849,0.326849 1 201337170 rs3729842 A G 115 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1378,G/0.8622;Gene=TNNT2/NM_000364.3/0;CC=c.163+120T>C;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.133+120T>C;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.133+120T>C;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.118+120T>C;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.163+120T>C;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.163+120T>C;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.133+120T>C;VC=Intron;DM=TNNT2/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:18:0:0:32:1000:115.13:61.16:53.98:1.00:1.00:1.00:60:38.5:0:0:81:69:43:NM_000364.2(TNNT2) c.163+120T>C,NM_000364.2(TNNT2) c.163+120T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 201337356 . C . . NT END=201338943;NT GT ./. 1 201338896 rs10920184 T C 182 nt VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.47,C/0.53,G/.;Gene=TNNT2/NM_000364.3/0;CC=c.97+48A>G;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.68-1541A>G;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.68-1541A>G;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.43-426A>G;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.97+48A>G;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.97+48A>G;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.68-1541A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:C:51:39:0:0:51:1575:181.54:113.76:67.78:1.00:1.00:1.00:60:43.1:0:0:45:104:26:NM_000364.2(TNNT2) c.97+48A>G,NM_000364.2(TNNT2) c.97+48A>G:0.54,0.54:0.527372,0.527372 1 201338974 . C . . NT END=201341154;NT GT ./. 1 201339043 rs12049476 C T 198 nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.004;Gene=TNNT2/NM_000364.3/0;CC=c.68-70G>A;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.68-1688G>A;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.68-1688G>A;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.43-573G>A;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.68-70G>A;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.68-70G>A;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.68-1688G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C,T:53:26:0:0:1,52:12,1748:0.00,197.78:0.00,61.00:0.00,136.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.0,39.5:0,0:0,0:133,85:6,61:0,23:NM_000364.2(TNNT2) c.68-70G>A,NM_000364.2(TNNT2) c.68-70G>A:0.59,0.59:0.544678,0.544678 1 201341170 . C . . NT END=201341272;NT GT ./. 1 201341175 rs45533739 CAGAAG C 361 nt VT=DEL;SST=Single;DP=102;DB;DBA=NA;PAF=CAGAAG/0.4796,C/0.5204;DB;DBA=NA;PAF=CAGAAG/0.4796,C/0.5204;DB;DBA=in-clinvar;PAF=CAGAAG/0.4796,C/0.5204;NP=2775;PC=0.644;Gene=TNNT2/NM_000364.3/0;CC=c.53-11_53-7delCTTCT;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.53-11_53-7delCTTCT;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.53-11_53-7delCTTCT;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.42+1161_42+1165delCTTCT;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.53-11_53-7delCTTCT;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.53-11_53-7delCTTCT;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.53-11_53-7delCTTCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:CAGAAG,C:102:73:0:98:4,98:107,3217:0.00,361.38:0.00,203.41:0.00,157.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,6.1:0,0:0,0:139,63:6,85:6,27:NM_000364.2(TNNT2) c.53-11_53-7delCTTCT,NM_000364.2(TNNT2) c.53-11_53-7delCTTCT:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201341284 . C . . NT END=201342341;NT GT ./. 1 201341341 rs868407 C T 408 nt VT=SNV;PN=A;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.2282,T/0.7718;Gene=TNNT2/NM_000364.3/0;CC=c.42-58G>A;VC=Intron;Gene=TNNT2/NM_001001430.2/0;CC=c.42-58G>A;VC=Intron;Gene=TNNT2/NM_001001431.2/0;CC=c.42-58G>A;VC=Intron;Gene=TNNT2/NM_001001432.2/0;CC=c.42+1000G>A;VC=Intron;Gene=TNNT2/NM_001276345.1/1;CC=c.42-58G>A;VC=Intron;Gene=TNNT2/NM_001276346.1/0;CC=c.42-58G>A;VC=Intron;Gene=TNNT2/NM_001276347.1/0;CC=c.42-58G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:111:63:0:0:1,110:6,3568:0.00,407.78:0.00,151.38:0.00,256.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:130.0,36.4:0,0:0,0:137,94:14,49:0,28:NM_000364.2(TNNT2) c.42-58G>A,NM_000364.2(TNNT2) c.42-58G>A:0.76,0.76:0.720762,0.720762 1 201342391 . C . . NT END=201351015;NT GT ./. 1 201351022 . C . . NT END=201351379;NT GT ./. 1 201351455 . C . . NT END=201351780;NT GT ./. 1 201351868 . C . . NT END=201352201;NT GT ./. 1 201352340 . C . . NT END=201352444;NT GT ./. 1 201352518 . C . . NT END=201353919;NT GT ./. 1 201353827 rs10920189 G C 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.4972,A/.,C/0.5028;PC=0.001;Gene=LAD1/NM_005558.3/1;CC=c.1175+93C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:513:59.28:51.67:7.60:1.00:1.00:1.00:60:47.5:0:0:61:90:32:NM_005558.3(LAD1) c.1175+93C>G,NM_005558.3(LAD1) c.1175+93C>G:0.51,0.51:NOT_FOUND,NOT_FOUND 1 201353964 . C . . NT END=201354828;NT GT ./. 1 201354934 . C . . NT END=201355462;NT GT ./. 1 201356307 . C . . NT END=201358287;NT GT ./. 1 201356428 rs4915230 C A 115 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.5697,A/0.4303;Gene=LAD1/NM_005558.3/1;CC=c.183-122G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:1:0:0:31:998:114.58:1.94:112.64:1.00:1.00:1.00:60:38.6:0:0:114:32:28:NM_005558.3(LAD1) c.183-122G>T,NM_005558.3(LAD1) c.183-122G>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 201358432 . C . . NT END=201368396;NT GT ./. 1 201368435 . G . . NT END=201379455;NT GT ./. 1 201368463 rs28364652 G GT 105 nt VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=18;NP=2;Gene=LAD1/NM_005558.3/1;CC=c.-30_-29insA;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GT:86:51:37:0:2,47,37:20,1477,1122:-0.06,0.00,104.88:0.08,0.00,47.94:-0.14,0.00,56.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:84.5,18.4,10.4:0,0,0:0,0,0:31,87,80:119,56,65:19,29,23:-,NM_005558.3(LAD1) c.-30_-29insA:-,0.1:-,0.227047 1 201379564 . C . . NT END=201380484;NT GT ./. 1 201380662 . C . . NT END=201382159;NT GT ./. 1 201382250 . C . . NT END=201383645;NT GT ./. 1 201382550 rs1256949 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2408,A/0.7592;PC=0.007;Gene=TNNI1/NM_003281.3/1;CC=c.190-301C>T;VC=Intron;DM=TNNI1/Troponin;DM=TNNI1/Troponin;DM=TNNI1/Troponin;DM=TNNI1/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:46.5:0:0:109:40:26:NM_003281.3(TNNI1) c.190-301C>T,NM_003281.3(TNNI1) c.190-301C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 201383616 rs2026593 A G 400 nt VT=SNV;PN=C;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=A/0.2222,G/0.7778,T/.;Gene=TNNI1/NM_003281.3/1;CC=c.189+30T>C;VC=Intron;DM=TNNI1/Troponin;DM=TNNI1/Troponin;DM=TNNI1/Troponin;DM=TNNI1/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:120:108:0:0:120:3441:400.40:303.80:96.60:1.00:1.00:1.00:60:73.1:0:0:41:106:32:NM_003281.3(TNNI1) c.189+30T>C,NM_003281.3(TNNI1) c.189+30T>C:0.8,0.8:0.83751,0.83751 1 201383643 rs2026594 A C 597 nt VT=SNV;PN=T;NN=A;SST=Single;DP=161;DB;DBA=NA;PAF=A/0.2218,C/0.7782;PC=1.000;Gene=TNNI1/NM_003281.3/1;CC=c.189+3T>G;VC=Intergenic;DM=TNNI1/Troponin;DM=TNNI1/Troponin;DM=TNNI1/Troponin;DM=TNNI1/Troponin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:161:139:0:0:1,159,1:7,5234,12:0.00,597.17,0.10:0.00,403.12,0.10:0.00,194.05,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:230.0,62.9,31.0:0,0,0:0,0,0:47,38,33:104,102,118:0,27,0:NM_003281.3(TNNI1) c.189+3T>G,NM_003281.3(TNNI1) c.189+3T>G:0.8,0.8:0.820939,0.820939 1 201383778 . C . . NT END=201384340;NT GT ./. 1 201384383 . C . . NT END=201386243;NT GT ./. 1 201386248 . C . . NT END=201386910;NT GT ./. 1 201386922 . G . . NT END=201437530;NT GT ./. 1 201437915 . G . . NT END=201453840;NT GT ./. 1 201438087 rs145312394 G GGA 48 nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.5885,GGA/0.4115;NP=7;Gene=PHLDA3/NM_012396.4/1;CC=c.-174_-173insTC;VC=5UTR;Gene=PHLDA3/NR_073080.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGA:45:1:17:0:28,17:873,529:0.00,48.06:0.00,3.45:0.00,44.60:0.00,1.00:0.00,0.59:0.00,1.00:60,60:8.6,10.2:0,0:0,0:94,95:57,54:33,14:-,NM_012396.3(PHLDA3) c.-174_-173insTC:-,0.44:-,NOT_FOUND 1 201453918 . C . . NT END=201454410;NT GT ./. 1 201454505 . C . . NT END=201455488;NT GT ./. 1 201455883 rs16848754 G A 177 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=NA;Gene=CSRP1/NM_001193572.1/0;CC=c.412-1379C>T;VC=Intron;Gene=CSRP1/NM_001193571.1/0;CC=c.412-1379C>T;VC=Intron;Gene=CSRP1/NM_001193570.1/0;CC=c.394-1379C>T;VC=Intron;Gene=CSRP1/NM_004078.2/1;CC=c.412-1379C>T;VC=Intron;DM=CSRP1/LIM;DM=CSRP1/LIM;DM=CSRP1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:104:58:0:0:56,48:1812,1542:176.72,0.00:68.41,0.00:108.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,33.9:0,0:0,0:94,72:56,73:31,40:NM_001193571.1(CSRP1) c.412-1379C>T,-:0.01,-:NOT_FOUND,- 1 201455910 rs3767541 C T 141 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.7021,T/0.2979;Gene=CSRP1/NM_001193572.1/0;CC=c.412-1406G>A;VC=Intron;Gene=CSRP1/NM_001193571.1/0;CC=c.412-1406G>A;VC=Intron;Gene=CSRP1/NM_001193570.1/0;CC=c.394-1406G>A;VC=Intron;Gene=CSRP1/NM_004078.2/1;CC=c.412-1406G>A;VC=Intron;DM=CSRP1/LIM;DM=CSRP1/LIM;DM=CSRP1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:56:0:0:54,46:1734,1494:0.00,141.38:0.00,61.19:0.00,80.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.8,39.3:0,0:0,0:80,86:70,59:39,40:-,NM_001193571.1(CSRP1) c.412-1406G>A:-,0.34:-,NOT_FOUND 1 201456144 . C . . NT END=201457982;NT GT ./. 1 201458113 . C . . NT END=201459303;NT GT ./. 1 201459473 . C . . NT END=201465319;NT GT ./. 1 201459621 rs927901 C T 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6751,T/0.3249;Gene=CSRP1/NM_001193572.1/0;CC=c.113-149G>A;VC=Intron;Gene=CSRP1/NM_001193571.1/0;CC=c.113-149G>A;VC=Intron;Gene=CSRP1/NM_001193570.1/0;CC=c.113-149G>A;VC=Intron;Gene=CSRP1/NM_004078.2/1;CC=c.113-149G>A;VC=Intron;DM=CSRP1/LIM;DM=CSRP1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,T:19:0:0:0:6,13:154,358:0.00,36.86:0.00,0.00:0.00,36.86:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,56.1:0,0:0,0:48,97:100,53:29,27:-,NM_001193571.1(CSRP1) c.113-149G>A:-,0.37:-,NOT_FOUND 1 201465432 . T . . NT END=201592012;NT GT ./. 1 201489285 rs41508046 G C 123 nt VT=SNV;PN=A;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.8812,C/0.1188;PC=1.000;Gene=RPS10P7/NR_026667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:60:40:0:0:37,23:1222,758:122.51,0.00:68.99,0.00:53.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.6,47.0:0,0:0,0:57,66:93,85:29,25:NR_026667.1(RPS10P7) n.254G>C,-:0.11,-:NOT_FOUND,- 1 201489286 rs4310467 C G 70 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.8502,G/0.1498;PC=1.000;Gene=RPS10P7/NR_026667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:60:40:0:0:37,23:1237,766:0.00,70.23:0.00,26.40:0.00,43.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.9,48.8:0,0:0,0:54,58:97,91:25,26:-,NR_026667.1(RPS10P7) n.255C>G:-,0.2:-,NOT_FOUND 1 201489302 rs41270953 C T 130 nt VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.8812,T/0.1188;PC=1.000;Gene=RPS10P7/NR_026667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:42:0:0:24,40:749,1288:0.00,129.56:0.00,75.05:0.00,54.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.7,63.9:0,0:0,0:79,58:70,92:23,22:-,NR_026667.1(RPS10P7) n.271C>T:-,0.11:-,NOT_FOUND 1 201489565 rs4345829 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7476,T/0.2524;PC=1.000;Gene=RPS10P7/NR_026667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:C,T:13:2:0:0:6,7:180,221:0.00,21.54:0.00,4.96:0.00,16.58:0.00,0.99:0.00,0.82:0.00,1.00:60,60:48.3,35.7:0,0:0,0:51,102:99,48:40,15:-,NR_026667.1(RPS10P7) n.534C>T:-,0.31:-,NOT_FOUND 1 201489612 rs56234554 C T 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8812,T/0.1188;PC=1.000;Gene=RPS10P7/NR_026667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,T:9:2:0:0:5,4:153,125:0.00,11.72:0.00,-0.26:0.00,11.98:0.00,0.85:0.00,0.74:0.00,0.85:60,60:42.6,72.5:0,0:0,0:89,79:61,72:49,19:-,NR_026667.1(RPS10P7) n.581C>T:-,0.11:-,NOT_FOUND 1 201489640 rs4915530 G C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8992,C/0.1008;PC=1.000;Gene=RPS10P7/NR_026667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,C,G:8:1:0:0:1,4,3:8,114,105:0.28,11.17,0.00:-0.03,-0.15,0.00:0.31,11.32,0.00:0.00,0.87,0.00:0.00,0.67,0.00:0.00,0.87,0.00:60,60,60:54.0,72.5,64.7:0,0,0:0,0,0:51,107,117:100,44,33:0,19,0:NR_026667.1(RPS10P7) n.609G>C,-:0.11,-:NOT_FOUND,- 1 201592735 . G . . NT END=201598531;NT GT ./. 1 201598636 . G . . NT END=201617449;NT GT ./. 1 201618554 . G . . NT END=201681944;NT GT ./. 1 201682048 . G . . NT END=201687517;NT GT ./. 1 201687406 rs11588142 G A 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.8415,A/0.1585;PC=0.002;Gene=NAV1/NM_020443.4/1;CC=c.861-112G>A;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:49:0:0:24,27:753,890:71.38,0.00:53.76,0.00:17.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.4,3.4:0,0:0,0:47,35:103,115:32,20:NM_020443.4(NAV1) c.861-112G>A,-:0.2,-:NOT_FOUND,- 1 201687451 rs11576721 A G 111 nt VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.4279,G/0.5721;Gene=NAV1/NM_020443.4/1;CC=c.861-67A>G;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:76:0:0:42,38:1375,1173:0.00,111.30:0.00,77.67:0.00,33.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,50.8:0,0:0,0:56,45:92,103:32,23:-,NM_020443.4(NAV1) c.861-67A>G:-,0.57:-,NOT_FOUND 1 201687884 . G . . NT END=201708962;NT GT ./. 1 201708798 rs239982 G A 63 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.7336,A/0.2664;PC=0.003;Gene=NAV1/NM_020443.4/1;CC=c.1226+20915G>A;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:42:0:0:21,21:658,678:63.17,0.00:63.17,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.8,6.2:0,0:0,0:34,51:117,100:32,30:NM_020443.4(NAV1) c.1226+20915G>A,-:0.29,-:NOT_FOUND,- 1 201709147 rs146374763 G A 162 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=G/0.9976,A/0.002396;NP=16;PC=0.992;Gene=NAV1/NM_020443.4/1;CC=c.1226+21264G>A;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.-5G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:121:56:0:0:54,67:1727,2146:162.31,0.00:37.66,0.00:124.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,7.7:0,0:0,0:92,81:58,62:37,37:NM_020443.4(NAV1) c.1226+21264G>A,-:0.0041,-:NOT_FOUND,- 1 201709205 . G . . NT END=201749548;NT GT ./. 1 201749520 rs529581 G C 58 nt VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.7097,A/.,C/0.2903;Gene=NAV1/NM_020443.4/1;CC=c.1227-29G>C;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.54-29G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:48:0:0:20,37:647,1127:58.23,0.00:37.48,0.00:20.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,0.7:0,0:0,0:61,54:84,87:23,31:NM_020443.4(NAV1) c.1227-29G>C,-:0.33,-:0.319622,- 1 201749688 . G . . NT END=201750139;NT GT ./. 1 201750438 . G . . NT END=201751303;NT GT ./. 1 201751998 . G . . NT END=201752533;NT GT ./. 1 201752164 rs552840 A G 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5453,G/0.4547;Gene=NAV1/NM_020443.4/1;CC=c.2357+167A>G;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.1184+167A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,G:17:1:0:0:6,11:189,351:0.00,35.56:0.00,-0.45:0.00,36.00:0.00,1.00:0.00,0.76:0.00,1.00:60,60:4.0,46.7:0,0:0,0:113,116:32,34:28,24:-,NM_020443.4(NAV1) c.2357+167A>G:-,0.47:-,NOT_FOUND 1 201752267 rs528789 T A 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7141,A/0.2859;Gene=NAV1/NM_020443.4/1;CC=c.2358-267T>A;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.1185-267T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,T:8:1:0:0:6,2:192,66:20.11,0.00:3.85,0.00:16.26,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:42.7,0.0:0,0:0,0:94,81:55,68:22,12:NM_020443.4(NAV1) c.2358-267T>A,-:0.33,-:NOT_FOUND,- 1 201752429 rs527725 A C 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.7145,C/0.2855,T/.;Gene=NAV1/NM_020443.4/1;CC=c.2358-105A>C;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.1185-105A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:32:0:0:17,15:511,487:0.00,46.24:0.00,46.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.6,45.1:0,0:0,0:63,84:88,66:37,35:-,NM_020443.4(NAV1) c.2358-105A>C:-,0.32:-,NOT_FOUND 1 201752981 . G . . NT END=201754437;NT GT ./. 1 201754410 rs56117427 CT C 71 idl,rn VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=CT/0.1552,C/0.8448;DB;DBA=NA;PAF=CT/0.1552,C/0.8448;NP=61;Gene=NAV1/NM_020443.4/1;CC=c.2805-11delT;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.1632-11delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:39:42:0:38:16,23:461,1177:0.00,71.30:0.00,38.84:0.00,32.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.7,38.5:1,14:0,0:112,50:18,94:22,22:-,NM_020443.4(NAV1) c.2805-27delT:-,NOT_FOUND:-,NOT_FOUND 1 201754480 . G . . NT END=201755556;NT GT ./. 1 201755706 . G . . NT END=201757595;NT GT ./. 1 201757767 . G . . NT END=201758867;NT GT ./. 1 201758921 . G . . NT END=201759681;NT GT ./. 1 201759349 rs676270 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.03135,C/0.9687;Gene=NAV1/NM_020443.4/1;CC=c.3220-333T>C;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2047-333T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:164:18.78:11.63:7.15:1.00:1.00:1.00:60:32.8:0:0:66:85:65:NM_020443.4(NAV1) c.3220-333T>C,NM_020443.4(NAV1) c.3220-333T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 201759706 . G . . NT END=201759816;NT GT ./. 1 201759895 . G . . NT END=201762919;NT GT ./. 1 201763004 . G . . NT END=201763593;NT GT ./. 1 201763184 rs564440 T C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4291,C/0.5709;Gene=NAV1/NM_020443.4/1;CC=c.3405+181T>C;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2232+181T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:291:33.36:0.00:33.36:1.00:0.00:1.00:60:40.9:0:0:100:49:37:NM_020443.4(NAV1) c.3405+181T>C,NM_020443.4(NAV1) c.3405+181T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 201763499 rs567185 C T 87 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.497,T/0.503;PC=0.059;Gene=NAV1/NM_020443.4/1;CC=c.3406-95C>T;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2233-95C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:C,T:26:26:0:0:1,25:34,767:0.00,86.67:0.00,86.67:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:135.0,33.5:0,0:0,0:28,38:118,113:0,25:NM_020443.4(NAV1) c.3406-95C>T,NM_020443.4(NAV1) c.3406-95C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201763706 . G . . NT END=201772720;NT GT ./. 1 201763912 rs481530 T C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4467,C/0.5533;Gene=NAV1/NM_020443.4/1;CC=c.3517+207T>C;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2344+207T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:133:15.64:0.00:15.64:1.00:0.00:1.00:60:50.8:0:0:122:29:26:NM_020443.4(NAV1) c.3517+207T>C,NM_020443.4(NAV1) c.3517+207T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 201772843 . G . . NT END=201773616;NT GT ./. 1 201772863 rs397715791 T TG 303 nt VT=INS;SST=Single;DP=103;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.01957,TG/0.9804;DB;DBA=NA;PAF=T/0.01957,TG/0.9804;NP=3399;Gene=NAV1/NM_020443.4/1;CC=c.3641+22dupG;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2466+24dupG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:T,TG:103:56:90:0:13,90:353,2769:0.00,303.05:0.00,109.62:0.00,193.43:0.00,1.00:0.00,1.00:0.00,1.00:60,70:24.4,27.7:2,0:0,0:147,82:3,68:3,28:-,NM_020443.4(NAV1) c.3639+21_3639+22insG:-,0.99:-,0.978115 1 201772891 rs41313906 G A 106 nt VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.9696,A/0.03035,T/.;Gene=NAV1/NM_020443.4/1;CC=c.3641+47G>A;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2466+49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:80:39:0:0:37,42,1:1123,1437,19:106.18,0.00,0.36:31.70,0.00,-0.07:74.48,0.00,0.43:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,70,60:41.2,15.8,213.0:0,0,0:0,0,0:109,83,93:42,66,58:19,33,0:NM_020443.4(NAV1) c.3639+49G>A,-:0.03,-:0.047293,- 1 201773566 . CT C 14 rn VT=DEL;SST=Single;DP=48;NP=8;PC=0.977;Gene=NAV1/NM_020443.4/1;CC=c.3646+384delT;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2466+735delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:CT,G,C:48:31:0:6:41,1,6:1419,12,185:0.00,-0.10,13.57:0.00,0.12,4.18:0.00,-0.22,9.39:0.00,0.00,0.85:0.00,0.00,0.95:0.00,0.00,0.97:60,60,60:10.9,160.0,11.2:0,0,0:0,0,0:42,123,44:102,13,102:31,0,28:-,NM_020443.4(NAV1) c.3640-50delT:-,NOT_FOUND:-,NOT_FOUND 1 201773626 . G . . NT END=201777080;NT GT ./. 1 201777278 . G . . NT END=201777545;NT GT ./. 1 201777690 rs75689268 C T 158 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.9984,T/0.001597;NP=79;PC=1.000;Gene=NAV1/NM_020443.4/1;CC=c.3990C>T;ProtCh=p.N1330=;VC=Silent;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.2808C>T;ProtCh=p.N936=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:121:86:0:0:67,54:2242,1681:0.00,157.67:0.00,85.14:0.00,72.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,45.1:0,0:0,0:73,50:76,88:40,23:-,NM_020443.4(NAV1) c.3990C>T (p.(=)):-,0.0027:-,0.008765 1 201777739 . G . . NT END=201777830;NT GT ./. 1 201778000 . G . . NT END=201778291;NT GT ./. 1 201778390 . G . . NT END=201778569;NT GT ./. 1 201778666 . G . . NT END=201779073;NT GT ./. 1 201779234 . G . . NT END=201779650;NT GT ./. 1 201779887 . G . . NT END=201780730;NT GT ./. 1 201780557 rs61821750 A C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8514,C/0.1486;Gene=NAV1/NM_020443.4/1;CC=c.4798-174A>C;VC=Intron;Gene=IPO9-AS1/NR_046696.1/0;VC=NonCoding;Gene=NAV1/NM_001167738.1/0;CC=c.3616-174A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,C,G:14:14:0:0:9,4,1:288,139,11:0.00,12.32,0.24:0.00,12.32,0.24:0.00,0.00,0.00:0.00,0.77,0.00:0.00,0.77,0.00:0.00,0.00,0.00:60,60,60:15.6,43.5,234.0:0,0,0:0,0,0:50,63,81:101,87,70:31,29,0:-,NM_020443.4(NAV1) c.4798-174A>C:-,0.15:-,NOT_FOUND 1 201780886 . G . . NT END=201781030;NT GT ./. 1 201781103 . G . . NT END=201781592;NT GT ./. 1 201781790 . G . . NT END=201782267;NT GT ./. 1 201782387 . G . . NT END=201786215;NT GT ./. 1 201786414 . G . . NT END=201788964;NT GT ./. 1 201789061 . G . . NT END=201798337;NT GT ./. 1 201798501 . G . . NT END=201816406;NT GT ./. 1 201816469 . G . . NT END=201816679;NT GT ./. 1 201816639 rs377102135 ATCTTTT A 61 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1454;Gene=IPO9/NM_018085.4/1;CC=c.226-36_226-31delTTTCTT;VC=Intron;DM=IPO9/IBN_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATCTTTT,A:38:22:0:20:18,20:576,630:0.00,61.11:0.00,26.89:0.00,34.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,5.6:0,0:0,0:60,64:84,85:42,41:-,NM_018085.4(IPO9) c.226-40_226-35delTCTTTT:-,0.24:-,0.27357 1 201816767 . G . . NT END=201817520;NT GT ./. 1 201817723 . G . . NT END=201821231;NT GT ./. 1 201821321 . G . . NT END=201822138;NT GT ./. 1 201822226 . G . . NT END=201823722;NT GT ./. 1 201823843 . G . . NT END=201823950;NT GT ./. 1 201824052 . A . . NT END=201824251;NT GT ./. 1 201824311 . G . . NT END=201824910;NT GT ./. 1 201824390 rs11576508 G A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7027,A/0.2973;PC=0.002;Gene=IPO9/NM_018085.4/1;CC=c.970+80G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:3:0:0:7,8:214,269:20.23,0.00:6.69,0.00:13.54,0.00:0.99,0.00:0.86,0.00:1.00,0.00:60,60:39.1,23.5:0,0:0,0:113,118:38,33:17,28:NM_018085.4(IPO9) c.970+80G>A,-:0.32,-:NOT_FOUND,- 1 201825063 . G . . NT END=201826223;NT GT ./. 1 201826323 . G . . NT END=201827574;NT GT ./. 1 201826340 rs2172935 C T 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.7784,T/0.2216;Gene=IPO9/NM_018085.4/1;CC=c.1221+18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:12:0:0:18,8:597,268:0.00,23.65:0.00,9.07:0.00,14.58:0.00,0.98:0.00,0.97:0.00,1.00:60,60:7.1,33.5:0,0:0,0:117,93:33,51:14,33:-,NM_018085.4(IPO9) c.1221+18C>T:-,0.24:-,0.286637 1 201827682 . G . . NT END=201827982;NT GT ./. 1 201828123 . G . . NT END=201832575;NT GT ./. 1 201828308 rs148348918 AATAT A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.004;Gene=IPO9/NM_018085.4/1;CC=c.1468+210_1468+213delTATA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:AATAT,A:7:0:0:3:4,3:116,99:0.00,9.26:0.00,0.00:0.00,9.26:0.00,0.69:0.00,0.00:0.00,0.69:60,60:14.2,0.0:1,0:0,0:144,115:6,36:3,4:-,NM_018085.4(IPO9) c.1468+187_1468+190delATAT:-,NOT_FOUND:-,NOT_FOUND 1 201828316 rs201400394 T A 10 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;PC=0.027;Gene=IPO9/NM_018085.4/1;CC=c.1468+194T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,T:4:0:0:1:3,1:98,32:10.25,0.00:0.00,0.00:10.25,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:0.0,47.0:3,0:0,0:119,150:32,1:4,0:NM_018085.4(IPO9) c.1468+194T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 201832451 rs2678206 T G 64 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.02875,G/0.9712;PC=0.021;Gene=IPO9/NM_018085.4/1;CC=c.1469-125T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:18:0:0:18:552:63.73:63.73:0.00:1.00:1.00:0.00:60:47.5:0:0:34:116:27:NM_018085.4(IPO9) c.1469-125T>G,NM_018085.4(IPO9) c.1469-125T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 201832479 . CA C 7 rn VT=DEL;SST=Single;DP=20;NP=19;PC=0.742;Gene=IPO9/NM_018085.4/1;CC=c.1469-85delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CA,I,C:20:20:2:3:15,2,3:482,65,91:0.00,4.77,7.00:0.00,4.82,7.07:0.00,-0.05,-0.07:0.00,0.00,0.50:0.00,0.00,0.50:0.00,0.00,0.40:60,60,60:34.5,52.0,44.0:0,0,0:0,0,0:55,32,14:95,118,119:19,1,11:-,NM_018085.4(IPO9) c.1469-96delA:-,NOT_FOUND:-,NOT_FOUND 1 201832736 . G . . NT END=201835860;NT GT ./. 1 201832864 rs2494115 G C 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.778,C/0.222;PC=0.054;Gene=IPO9/NM_018085.4/1;CC=c.1628+129G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:C,G:18:0:0:0:12,6:368,189:37.54,0.00:0.00,0.00:37.54,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.9,11.7:0,0:0,0:116,86:34,64:22,24:NM_018085.4(IPO9) c.1628+129G>C,-:0.24,-:NOT_FOUND,- 1 201835605 rs5780091 C CA 15 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.149,CA/0.851;DB;DBA=NA;PAF=C/0.149,CA/0.851;NP=31;Gene=IPO9/NM_018085.4/1;CC=c.1629-244dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CA:4:4:4:0:4:128:14.71:14.71:0.00:1.00:1.00:0.00:60:6.0:0:0:100:50:19:NM_018085.4(IPO9) c.1629-256_1629-255insA,NM_018085.4(IPO9) c.1629-256_1629-255insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 201836088 . G . . NT END=201837775;NT GT ./. 1 201837925 . G . . NT END=201838717;NT GT ./. 1 201837934 rs567467470 CGT C 128 rn VT=DEL;SST=Single;DP=138;DB;DBA=NA;PAF=CGT/0.2861,C/0.6985;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CGT/0.2861,C/0.6985;NP=1560;Gene=IPO9/NM_018085.4/1;CC=c.2004+32_2004+33delTG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGT,I,C:137:78:1:49:89,1,47:2551,33,1474:0.00,1.36,128.44:0.00,0.71,49.00:0.00,0.65,79.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.5,0.0,6.3:1,0,1:0,0,0:105,82,81:37,68,62:28,0,21:-,NM_018085.4(IPO9) c.2004+11_2004+12delGT:-,NOT_FOUND:-,NOT_FOUND 1 201838107 rs2820310 G A 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7831,A/0.2169;PC=0.001;Gene=IPO9/NM_018085.4/1;CC=c.2004+183G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:0:0:0:10,16:305,550:27.75,0.00:0.00,0.00:27.75,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.3,8.3:0,0:0,0:116,116:35,35:26,25:NM_018085.4(IPO9) c.2004+183G>A,-:0.24,-:NOT_FOUND,- 1 201838847 . G . . NT END=201839710;NT GT ./. 1 201839987 . G . . NT END=201840288;NT GT ./. 1 201840059 rs397705092 GTTATT G 154 nt VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=GTTATT/0.1358,G/0.8642;DB;DBA=NA;PAF=GTTATT/0.1358,G/0.8642;DB;DBA=NA;PAF=GTTATT/0.1358,G/0.8642;DB;DBA=NA;PAF=NA;NP=2889;PC=0.012;Gene=IPO9/NM_018085.4/1;CC=c.2409+82_2409+86delTTTTA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTTATT,G:63:26:0:46:17,46:529,1476:0.00,153.63:0.00,39.76:0.00,113.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.4,3.1:0,0:0,0:137,83:8,68:4,37:-,NM_018085.4(IPO9) c.2409+74_2409+78delTTATT:-,0.86:-,NOT_FOUND 1 201840456 . G . . NT END=201841955;NT GT ./. 1 201840464 rs2644124 T C 251 nt VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.007588,C/0.9924;NP=3482;Gene=IPO9/NM_018085.4/1;CC=c.2576+9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:35:0:0:70:2179:251.15:95.98:155.17:1.00:1.00:1.00:60:49.5:0:0:104:44:22:NM_018085.4(IPO9) c.2576+9T>C,NM_018085.4(IPO9) c.2576+9T>C:1,1:0.993388,0.993388 1 201840504 . CTT C 11 idl,rn VT=DEL;SST=Single;DP=36;PC=0.006;Gene=IPO9/NM_018085.4/1;CC=c.2576+78_2576+79delTT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:CTT,T,C:34:15:0:10:27,2,5:779,67,207:0.00,4.48,10.96:0.00,-0.29,-0.75:0.00,4.77,11.70:0.00,0.00,0.78:0.00,0.00,0.82:0.00,0.00,0.95:60,60,60:50.2,163.0,67.4:0,2,2:0,0,0:124,93,96:26,56,55:10,11,16:-,NM_018085.4(IPO9) c.2576+50_2576+51delTT:-,NOT_FOUND:-,NOT_FOUND 1 201842090 . G . . NT END=201843377;NT GT ./. 1 201843501 . G . . NT END=201843959;NT GT ./. 1 201844065 . G . . NT END=201844279;NT GT ./. 1 201844128 rs2678203 G A 140 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.02915,A/0.9708;Gene=IPO9/NM_018085.4/1;CC=c.2938+64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:24:0:0:39:1213:139.72:84.53:55.19:1.00:1.00:1.00:60:39.5:0:0:103:48:32:NM_018085.4(IPO9) c.2938+64G>A,NM_018085.4(IPO9) c.2938+64G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 201844357 . G . . NT END=201845071;NT GT ./. 1 201845183 . A . . NT END=201858122;NT GT ./. 1 201858196 . G . . NT END=201858572;NT GT ./. 1 201858745 . G . . NT END=201859581;NT GT ./. 1 201859716 . G . . NT END=201860528;NT GT ./. 1 201860626 rs2250377 A G 121 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.2157,G/0.7843;PC=1.000;Gene=SHISA4/NR_030775.1/0;VC=NonCoding;Gene=SHISA4/NM_198149.2/1;CC=c.477A>G;ProtCh=p.I159M;VC=Missense;DM=SHISA4/Shisa GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:105:75:0:0:63,1,41:2031,13,1314:0.00,-0.08,120.63:0.00,-0.13,63.35:0.00,0.05,57.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.1,62.0,39.5:0,0,0:0,0,0:74,63,72:73,88,69:29,0,38:-,NM_198149.2(SHISA4) c.477A>G (p.Ile159Met):-,0.76:-,0.718361 1 201860697 . G . . NT END=201860927;NT GT ./. 1 201860975 . G . . NT END=201867499;NT GT ./. 1 201861016 rs2279681 C G 88 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.7015,A/.,G/0.2985;Gene=SHISA4/NR_030775.1/0;VC=NonCoding;Gene=SHISA4/NM_198149.2/1;CC=c.*42C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:44:24:0:0:17,27:590,883:0.00,88.40:0.00,24.76:0.00,63.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,40.8:0,0:0,0:106,99:37,48:22,24:-,NM_198149.2(SHISA4) c.*42C>G:-,0.33:-,0.329848 1 201867527 . C . . NT END=201868364;NT GT ./. 1 201869257 rs2820312 G A 238 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=154;DB;DBA=NA;PAF=G/0.7821,A/0.2179;Gene=LMOD1/NM_012134.2/1;CC=c.884C>T;ProtCh=p.T295M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:154:105:0:0:76,78:2477,2547:237.60,0.00:131.29,0.00:106.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,8.3:0,0:0,0:77,62:62,83:24,34:NM_012134.2(LMOD1) c.884C>T (p.Thr295Met),-:0.24,-:0.27901,- 1 201869880 . C . . NT END=201915207;NT GT ./. 1 201915055 rs2819370 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6911,G/.,T/0.3089;Gene=LMOD1/NM_012134.2/1;CC=c.261+153G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:19:0:0:11,8:348,238:0.00,21.98:0.00,21.98:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.5,57.5:0,0:0,0:80,55:69,95:58,18:-,NM_012134.2(LMOD1) c.261+153G>A:-,0.28:-,NOT_FOUND 1 201915469 . C . . NT END=201924654;NT GT ./. 1 201915658 rs2819371 A C 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.08027,C/0.9197;Gene=LMOD1/NM_012134.2/1;CC=c.-190T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:449:51.99:0.00:51.99:1.00:0.00:1.00:60:60.1:0:0:94:56:7:NM_012134.2(LMOD1) c.=,NM_012134.2(LMOD1) c.=:0.93,0.93:NOT_FOUND,NOT_FOUND 1 201915718 rs2820303 C G 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.08047,G/0.9195;PC=0.089 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:62.0:0:0:139:11:9:NM_012134.2(LMOD1) c.-248-u2G>C,NM_012134.2(LMOD1) c.-248-u2G>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 201918224 rs71141428 A AAC 13 idl,rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=7;NP=87;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,T,AAC:7:6:6:0:2,1,4:67,9,191:0.00,0.40,13.09:0.00,-0.08,6.37:0.00,0.48,6.72:0.00,0.00,0.85:0.00,0.00,0.96:0.00,0.00,0.96:60,60,60:0.0,19.0,8.2:0,0,2:0,0,0:70,16,53:77,135,96:42,0,37:-,NM_006335.2(TIMM17A) c.-36-u6395_-36-u6394insAC:-,NOT_FOUND:-,NOT_FOUND 1 201924681 . G . . NT END=201926408;NT GT ./. 1 201924749 rs3820438 G C 107 nt VT=SNV;PN=A;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.7145,C/0.2855;PC=0.007;Gene=TIMM17A/NM_006335.2/1;CC=c.26+69G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:71:22:0:0:39,31,1:1099,973,11:107.38,0.00,-0.02:21.90,0.00,0.14:85.48,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,6.2,11.0:0,0,0:0,0,0:103,92,150:47,53,1:32,24,0:NM_006335.2(TIMM17A) c.26+69G>C,-:0.3,-:0.200175,- 1 201926169 rs2819374 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.08566,A/0.9143;Gene=TIMM17A/NM_006335.2/1;CC=c.27-240G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:43.8:0:0:24:124:4:NM_006335.2(TIMM17A) c.27-240G>A,NM_006335.2(TIMM17A) c.27-240G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 201926386 rs57833794 C CT 87 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=899;Gene=TIMM17A/NM_006335.2/1;CC=c.27-15dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:37:30:26:0:11,26:365,842:0.00,86.82:0.00,67.46:0.00,19.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,7.2:0,0:0,0:8,50:143,96:7,27:-,NM_006335.2(TIMM17A) c.27-23_27-22insT:-,0.18:-,NOT_FOUND 1 201926509 . G . . NT END=201926638;NT GT ./. 1 201926703 . G . . NT END=201932743;NT GT ./. 1 201932873 . G . . NT END=201934560;NT GT ./. 1 201934672 . G . . NT END=201938596;NT GT ./. 1 201938683 . G . . NT END=201951794;NT GT ./. 1 201947772 rs10800803 G A 86 nt VT=SNV;PN=G;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.731,A/0.269;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:57:50:0:0:28,1,27,1:897,12,862,11:86.48,0.04,0.00,-0.01:61.68,0.11,0.00,0.07:24.81,-0.08,0.00,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:43.9,58.0,35.5,43.0:0,0,0,0:0,0,0,0:64,115,58,5:86,36,92,146:23,0,32,0:NM_020216.3(RNPEP) c.-29-u3994G>A,-:0.29,-:NOT_FOUND,- 1 201947787 rs61821526 G A 102 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.6991,A/0.3009;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:51:0:0:34,26:1039,901:102.18,0.00:60.11,0.00:42.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,33.6:0,0:0,0:73,64:76,87:41,24:NM_020216.3(RNPEP) c.-29-u3979G>A,-:0.28,-:NOT_FOUND,- 1 201948006 rs61821527 G T 61 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.6234,T/0.3766;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:47:24:0:0:27,20:852,655:0.00,61.14:0.00,20.32:0.00,40.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,37.2:0,0:0,0:48,60:103,91:30,43:-,NM_020216.3(RNPEP) c.-29-u3760G>T:-,0.33:-,NOT_FOUND 1 201951591 rs76173951 G A 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.7041,A/0.2959;PC=0.035 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:12,12:401,362:38.60,0.00:38.60,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.3,17.7:0,0:0,0:28,53:122,97:15,33:NM_020216.3(RNPEP) c.-29-u175G>A,-:0.28,-:NOT_FOUND,- 1 201952242 . G . . NT END=201952457;NT GT ./. 1 201952294 rs73074403 C G 490 nt VT=SNV;PN=C;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.4868,G/0.5132;Gene=RNPEP/NM_020216.3/1;CC=c.447+53C>G;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:133:76:0:0:133:4266:489.68:178.92:310.75:1.00:1.00:1.00:60:69.1:0:0:86:63:29:NM_020216.3(RNPEP) c.447+53C>G,NM_020216.3(RNPEP) c.447+53C>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 201952310 rs112370844 T G 450 nt VT=SNV;PN=C;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=T/0.4866,G/0.5134;Gene=RNPEP/NM_020216.3/1;CC=c.447+69T>G;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:119:59:0:0:119:3932:449.66:146.67:302.99:1.00:1.00:1.00:60:71.4:0:0:89:55:29:NM_020216.3(RNPEP) c.447+69T>G,NM_020216.3(RNPEP) c.447+69T>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201952440 rs60731568 C CCTT 225 nt VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.487,CCTT/0.513;DB;DBA=NA;PAF=C/0.487,CCTT/0.513;NP=119;Gene=RNPEP/NM_020216.3/1;CC=c.447+202_447+204dupTCT;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:C,CCTT:70:38:64:0:6,64:178,2029:0.00,224.61:0.00,103.16:0.00,121.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.7,13.2:2,0:0,0:137,81:6,69:6,27:-,NM_020216.3(RNPEP) c.447+199_447+200insCTT:-,0.52:-,NOT_FOUND 1 201952574 rs4950806 T C 385 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.4359,C/0.5641;Gene=RNPEP/NM_020216.3/1;CC=c.447+333T>C;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:100:75:0:0:100:3377:385.29:228.96:156.33:1.00:1.00:1.00:60:58.2:0:0:62:87:37:NM_020216.3(RNPEP) c.447+333T>C,NM_020216.3(RNPEP) c.447+333T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 201952598 rs56768485 G A 160 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.654,A/0.346;Gene=RNPEP/NM_020216.3/1;CC=c.447+357G>A;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:104:77:0:0:53,51:1660,1705:159.85,0.00:85.66,0.00:74.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.5,37.8:0,0:0,0:83,76:68,75:35,23:NM_020216.3(RNPEP) c.447+357G>A,-:0.32,-:NOT_FOUND,- 1 201952755 rs4950807 T A 458 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=T/0.4872,A/0.5128;Gene=RNPEP/NM_020216.3/1;CC=c.447+514T>A;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:126:76:0:0:124,1,1:4018,5,23:458.08,0.02,0.00:217.99,0.02,0.00:240.09,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.4,182.0,93.0:0,0,2:0,0,0:68,41,13:76,110,138:35,0,0:NM_020216.3(RNPEP) c.447+514T>A,NM_020216.3(RNPEP) c.447+514T>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201952938 rs7548375 T C 362 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.2093,C/0.7907;Gene=RNPEP/NM_020216.3/1;CC=c.447+697T>C;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:101:59:0:0:101:3140:361.78:141.62:220.16:1.00:1.00:1.00:60:38.0:0:0:76:73:31:NM_020216.3(RNPEP) c.447+697T>C,NM_020216.3(RNPEP) c.447+697T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 201953013 . G . . NT END=201958031;NT GT ./. 1 201953095 rs4950747 C G 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.487,G/0.513;PC=0.001;Gene=RNPEP/NM_020216.3/1;CC=c.447+854C>G;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:6:0:0:28:929:106.22:16.21:90.02:1.00:1.00:1.00:60:86.9:0:0:102:48:18:NM_020216.3(RNPEP) c.447+854C>G,NM_020216.3(RNPEP) c.447+854C>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201953135 rs7550685 T A 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.487,A/0.513;PC=0.002;Gene=RNPEP/NM_020216.3/1;CC=c.447+894T>A;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:0:0:0:22:720:82.46:0.00:82.46:1.00:0.00:1.00:60:120.9:0:0:114:36:21:NM_020216.3(RNPEP) c.447+894T>A,NM_020216.3(RNPEP) c.447+894T>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201953147 rs7539103 G C 83 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.487,C/0.513;PC=0.005;Gene=RNPEP/NM_020216.3/1;CC=c.447+906G>C;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:1:0:0:22:726:83.06:3.68:79.39:1.00:1.00:1.00:60:123.8:0:0:120:31:26:NM_020216.3(RNPEP) c.447+906G>C,NM_020216.3(RNPEP) c.447+906G>C:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201953158 rs4950748 G C 58 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.487,C/0.513;PC=0.007;Gene=RNPEP/NM_020216.3/1;CC=c.447+917G>C;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:1:0:0:16:506:58.19:1.94:56.25:1.00:1.00:1.00:60:129.5:0:0:98:52:39:NM_020216.3(RNPEP) c.447+917G>C,NM_020216.3(RNPEP) c.447+917G>C:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201953262 rs4950749 T G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.487,G/0.513;PC=0.032;Gene=RNPEP/NM_020216.3/1;CC=c.447+1021T>G;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:3:0:0:7:236:26.94:7.75:19.18:1.00:1.00:1.00:60:106.9:0:0:70:81:54:NM_020216.3(RNPEP) c.447+1021T>G,NM_020216.3(RNPEP) c.447+1021T>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 201953294 rs4950750 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.487,A/0.513;PC=0.024;Gene=RNPEP/NM_020216.3/1;CC=c.447+1053G>A;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:164:18.78:3.93:14.86:1.00:1.00:1.00:60:103.0:0:0:87:64:32:NM_020216.3(RNPEP) c.447+1053G>A,NM_020216.3(RNPEP) c.447+1053G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 1 201953340 rs4950751 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.487,T/0.513;PC=0.037;Gene=RNPEP/NM_020216.3/1;CC=c.447+1099C>T;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:170:19.38:5.97:13.42:1.00:1.00:1.00:60:83.2:0:0:101:49:47:NM_020216.3(RNPEP) c.447+1099C>T,NM_020216.3(RNPEP) c.447+1099C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 201957760 rs7535446 C A 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2262,A/0.7738;Gene=RNPEP/NM_020216.3/1;CC=c.448-272C>A;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:258:29.61:29.61:0.00:1.00:1.00:0.00:60:35.9:0:0:35:115:17:NM_020216.3(RNPEP) c.448-272C>A,NM_020216.3(RNPEP) c.448-272C>A:0.78,0.78:NOT_FOUND,NOT_FOUND 1 201958173 . G . . NT END=201958510;NT GT ./. 1 201958268 rs114371828 C T 86 nt VT=SNV;PN=T;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.9802,T/0.01977;Gene=RNPEP/NM_020216.3/1;CC=c.588+96C>T;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:13:0:0:28,27:893,898:0.00,86.13:0.00,24.19:0.00,61.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,36.3:0,0:0,0:104,72:45,79:36,35:-,NM_020216.3(RNPEP) c.588+96C>T:-,0.02:-,NOT_FOUND 1 201958660 . G . . NT END=201965274;NT GT ./. 1 201965392 . G . . NT END=201966446;NT GT ./. 1 201965661 rs10920298 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.51,G/0.49;Gene=RNPEP/NM_020216.3/1;CC=c.854+270A>G;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:4:1:0:0:1,3:31,100:0.00,10.45:0.00,3.25:0.00,7.20:0.00,0.85:0.00,0.83:0.00,0.99:60,60:15.0,36.3:0,0:0,0:145,108:6,43:0,36:-,NM_020216.3(RNPEP) c.854+270A>G:-,0.55:-,NOT_FOUND 1 201966238 rs4950756 C T 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7053,T/0.2947;Gene=RNPEP/NM_020216.3/1;CC=c.855-209C>T;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:7:7:0:0:2,5:59,129:0.00,13.42:0.00,13.42:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:60.0,55.0:0,0:0,0:52,59:90,91:45,4:-,NM_020216.3(RNPEP) c.855-209C>T:-,0.36:-,NOT_FOUND 1 201966273 rs4950757 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7029,A/0.2971;Gene=RNPEP/NM_020216.3/1;CC=c.855-174G>A;VC=Intron;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:7,8:233,232:22.14,0.00:22.14,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:52.9,19.1:0,0:0,0:55,22:95,128:39,8:NM_020216.3(RNPEP) c.855-174G>A,-:0.36,-:NOT_FOUND,- 1 201966683 . G . . NT END=201969029;NT GT ./. 1 201969082 rs1130790 G A 156 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.6915,A/0.3085,C/.;PC=1.000;Gene=RNPEP/NM_020216.3/1;CC=c.1143G>A;ProtCh=p.Q381=;VC=Silent;DM=RNPEP/Peptidase_M1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:73:0:0:51,47:1613,1652:156.11,0.00:78.88,0.00:77.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,1.3:0,0:0,0:86,86:57,60:23,28:NM_020216.3(RNPEP) c.1143G>A (p.(=)),-:0.37,-:0.347916,- 1 201969144 . G . . NT END=201970503;NT GT ./. 1 201970562 rs4332408 T C 269 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.02137,C/0.9786;PC=0.008;Gene=RNPEP/NM_020216.3/1;CC=c.1263T>C;ProtCh=p.V421=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:69:46:0:0:69:2358:268.65:131.27:137.38:1.00:1.00:1.00:60:41.7:0:0:79:59:32:NM_020216.3(RNPEP) c.=,NM_020216.3(RNPEP) c.=:0.98,0.98:0.97924,0.97924 1 201970617 . G . . NT END=201970786;NT GT ./. 1 201970748 rs4131469 G A 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.6897,A/0.3103;Gene=RNPEP/NM_020216.3/1;CC=c.1318-39G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:35:16:0:0:18,16,1:599,508,19:58.27,0.00,0.69:30.89,0.00,-0.06:27.39,0.00,0.75:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.2,17.3,19.0:0,0,0:0,0,0:64,71,10:86,78,141:40,25,0:NM_020216.3(RNPEP) c.1318-39G>A,-:0.37,-:0.349223,- 1 201970896 . G . . NT END=201972364;NT GT ./. 1 201972167 rs16849539 G A 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8546,A/0.1454;Gene=RNPEP/NM_020216.3/1;CC=c.1427-198G>A;VC=Intron;DM=RNPEP/Leuk-A4-hydro_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,G:13:13:0:0:8,5:267,118:26.83,0.00:26.83,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.8,19.6:0,0:0,0:28,61:122,88:17,32:NM_020216.3(RNPEP) c.1427-198G>A,-:0.11,-:NOT_FOUND,- 1 201972590 . G . . NT END=201973481;NT GT ./. 1 201973625 . G . . NT END=201974685;NT GT ./. 1 201974503 rs10737577 C T 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.02196,T/0.978;Gene=RNPEP/NM_020216.3/1;CC=c.1795-183C>T;VC=Intron;DM=RNPEP/Leuk-A4-hydro_C;DM=RNPEP/Leuk-A4-hydro_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A,T:17:17:0:0:1,16:7,402:0.22,47.15:0.22,47.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.0,45.4:0,0:0,0:26,47:124,103:0,30:NM_020216.3(RNPEP) c.1795-183C>T,NM_020216.3(RNPEP) c.1795-183C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 201974845 . A . . NT END=201980264;NT GT ./. 1 201980095 rs60246030 AT A 10 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=AT/0.8111,A/0.1889;NP=210;Gene=ELF3/NM_001114309.1/0;CC=c.-9+148delT;VC=Intron;Gene=ELF3/NM_004433.4/1;CC=c.-8-161delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:AT,A:12:12:0:4:8,4:242,115:0.00,10.10:0.00,10.10:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:15.0,47.0:0,0:0,0:27,67:124,83:25,36:-,NM_001114309.1(ELF3) c.-9+148delT:-,0.21:-,NOT_FOUND 1 201980119 rs2819361 C G 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2422,G/0.7578;PC=0.005;Gene=ELF3/NM_001114309.1/0;CC=c.-8-138C>G;VC=Intron;Gene=ELF3/NM_004433.4/1;CC=c.-8-138C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:19:0:0:11,8:350,228:0.00,20.97:0.00,20.97:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:12.2,40.9:0,0:0,0:28,31:123,119:18,20:-,NM_001114309.1(ELF3) c.-8-138C>G:-,0.77:-,NOT_FOUND 1 201980428 . G . . NT END=201981084;NT GT ./. 1 201981005 . CA C 20 idl,rn VT=DEL;SST=Single;DP=59;NP=16;PC=0.001;Gene=ELF3/NM_001114309.1/0;CC=c.164-63delA;VC=Intron;Gene=ELF3/NM_004433.4/1;CC=c.164-63delA;VC=Intron;DM=ELF3/SAM_PNT;DM=ELF3/SAM_PNT;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,CA,G,I,C:54:57:10:10:1,37,1,7,8:8,1200,10,318,316:-0.18,0.00,-0.12,17.14,19.54:-0.16,0.00,-0.10,17.28,18.29:-0.02,0.00,-0.02,-0.14,1.25:0.00,0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.45:60,60,60,60,60:98.0,9.3,77.0,36.9,51.0:0,0,0,3,2:0,0,0,0,0:108,49,74,56,37:18,101,63,94,113:0,35,0,41,13:-,NM_001114309.1(ELF3) c.164-79delA:-,NOT_FOUND:-,NOT_FOUND 1 201981218 rs11543979 C G 217 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=165;DB;DBA=NA;PAF=C/0.6617,G/0.3383,T/.;Gene=ELF3/NM_001114309.1/0;CC=c.297C>G;ProtCh=p.G99=;VC=Silent;Gene=ELF3/NM_004433.4/1;CC=c.297C>G;ProtCh=p.G99=;VC=Silent;DM=ELF3/SAM_PNT;DM=ELF3/SAM_PNT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:165:113:0:0:1,90,74:14,2876,2304:-0.08,0.00,216.66:-0.11,0.00,124.07:0.03,0.00,92.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:186.0,7.2,42.1:0,0,0:0,0,0:6,94,73:144,54,75:0,29,32:-,NM_001114309.1(ELF3) c.297C>G (p.(=)):-,0.33:-,0.295556 1 201981307 . G . . NT END=201981471;NT GT ./. 1 201981354 rs56310296 T C 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.6504,C/0.3496;Gene=ELF3/NM_001114309.1/0;CC=c.385+48T>C;VC=Intron;Gene=ELF3/NM_004433.4/1;CC=c.385+48T>C;VC=Intron;DM=ELF3/SAM_PNT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:66:24:0:0:34,1,31:965,10,934:93.12,-0.06,0.00:36.35,-0.06,0.00:56.78,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:73.8,80.0,12.6:0,0,0:0,0,0:99,41,82:51,109,69:34,0,45:NM_001114309.1(ELF3) c.385+48T>C,-:0.33,-:0.26742,- 1 201981355 rs55666208 G C 94 nt VT=SNV;PN=T;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.656,A/.,C/0.344;Gene=ELF3/NM_001114309.1/0;CC=c.385+49G>C;VC=Intron;Gene=ELF3/NM_004433.4/1;CC=c.385+49G>C;VC=Intron;DM=ELF3/SAM_PNT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:67:24:0:0:1,35,31:17,971,1001:0.30,93.86,0.00:0.45,32.11,0.00:-0.14,61.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:45.0,75.1,12.5:0,0,0:0,0,0:58,93,83:93,58,68:0,30,46:NM_001114309.1(ELF3) c.385+49G>C,-:0.32,-:0.267918,- 1 201981565 . G . . NT END=201981767;NT GT ./. 1 201981862 rs2819362 T C 261 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=T/0.2957,C/0.7043;Gene=ELF3/NM_001114309.1/0;CC=c.573T>C;ProtCh=p.P191=;VC=Silent;Gene=ELF3/NM_004433.4/1;CC=c.573T>C;ProtCh=p.P191=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:213:159:0:0:90,123:2811,4098:261.04,0.00:157.50,0.00:103.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,7.6:0,0:0,0:79,85:70,61:28,35:NM_001114309.1(ELF3) c.573T>C (p.(=)),-:0.68,-:0.60589,- 1 201981888 . G . . NT END=201981978;NT GT ./. 1 201982165 . G . . NT END=201982309;NT GT ./. 1 201982427 . G . . NT END=201982956;NT GT ./. 1 201983153 . G . . NT END=201984336;NT GT ./. 1 201983242 rs2819365 C T 94 nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.8179,T/0.1821;Gene=ELF3/NM_001114309.1/0;CC=c.1001+90C>T;VC=Intron;Gene=ELF3/NM_004433.4/1;CC=c.1001+90C>T;VC=Intron;DM=ELF3/Ets GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:4:0:0:32,30:1077,987:0.00,94.37:0.00,6.97:0.00,87.40:0.00,1.00:0.00,0.93:0.00,1.00:60,60:16.1,37.0:0,0:0,0:94,80:57,69:33,39:-,NM_001114309.1(ELF3) c.1001+90C>T:-,0.19:-,NOT_FOUND 1 201984452 . G . . NT END=202092091;NT GT ./. 1 202091849 rs3922998 T C 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.3942,C/0.6058;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:352:40.44:40.44:0.00:1.00:1.00:0.00:60:38.5:0:0:16:135:11:NM_004767.3(GPR37L1) c.-63-u180T>C,NM_004767.3(GPR37L1) c.-63-u180T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 202092046 rs3795593 C T 246 nt VT=SNV;PN=G;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.4004,T/0.5996;PC=0.002;Gene=GPR37L1/NM_004767.3/1;CC=c.-46C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:61:0:0:68:2138:246.16:180.26:65.90:1.00:1.00:1.00:60:38.9:0:0:49:98:31:NM_004767.3(GPR37L1) c.-46C>T,NM_004767.3(GPR37L1) c.-46C>T:0.59,0.59:0.719116,0.719116 1 202092360 rs3795595 G A 666 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=186;DB;DBA=NA;PAF=G/0.1496,A/0.8504;Gene=GPR37L1/NM_004767.3/1;CC=c.269G>A;ProtCh=p.G90D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:186:130:0:0:186:5776:665.94:367.06:298.88:1.00:1.00:1.00:60:59.5:0:0:76:73:33:NM_004767.3(GPR37L1) c.269G>A (p.Gly90Asp),NM_004767.3(GPR37L1) c.269G>A (p.Gly90Asp):0.84,0.84:0.865831,0.865831 1 202092415 rs3795596 A G 660 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=A/0.1484,G/0.8516;PC=0.016;Gene=GPR37L1/NM_004767.3/1;CC=c.324A>G;ProtCh=p.G108=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:187:131:0:0:186,1:5720,12:659.90,0.09:337.70,0.00:322.20,0.09:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.8,12.0:0,0:0,0:78,36:70,115:39,0:NM_004767.3(GPR37L1) c.324A>G (p.(=)),NM_004767.3(GPR37L1) c.324A>G (p.(=)):0.84,0.84:0.867753,0.867753 1 202092580 rs7516762 T C 508 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=T/0.1685,C/0.8315;Gene=GPR37L1/NM_004767.3/1;CC=c.489T>C;ProtCh=p.S163=;VC=Silent;DM=GPR37L1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:146:81:0:0:145,1:4399,11:507.71,0.09:196.96,0.09:310.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,53.0:0,0:0,0:93,128:57,22:31,0:NM_004767.3(GPR37L1) c.489T>C (p.(=)),NM_004767.3(GPR37L1) c.489T>C (p.(=)):0.83,0.83:0.849531,0.849531 1 202092722 . G . . NT END=202096868;NT GT ./. 1 202096815 rs3820380 G A 135 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.4818,A/0.5182;Gene=GPR37L1/NM_004767.3/1;CC=c.631-54G>A;VC=Intron;DM=GPR37L1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:A,C:40:36:0:0:39,1:1173,13:135.35,0.38:108.02,0.38:27.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.5,81.0:0,0:0,0:34,75:116,76:19,0:NM_004767.3(GPR37L1) c.631-54G>A,NM_004767.3(GPR37L1) c.631-54G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 202097685 . G . . NT END=202103594;NT GT ./. 1 202103645 . C . . NT END=202104277;NT GT ./. 1 202103802 rs4342901 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7538,A/0.2462;Gene=ARL8A/NM_001256129.1/0;CC=c.444-158C>T;VC=Intron;Gene=ARL8A/NM_138795.3/1;CC=c.512-158C>T;VC=Intron;DM=ARL8A/Arf GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:5:0:0:0:4,1:119,33:12.72,0.00:0.00,0.00:12.72,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:31.0,0.0:0,0:0,0:110,139:41,12:17,0:NM_138795.3(ARL8A) c.512-158C>T,-:0.23,-:NOT_FOUND,- 1 202104349 . C . . NT END=202104586;NT GT ./. 1 202104655 . C . . NT END=202104834;NT GT ./. 1 202104929 . C . . NT END=202107092;NT GT ./. 1 202107167 . C . . NT END=202107495;NT GT ./. 1 202107422 rs60365890 AACACAC A 49 idl,nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=310;Gene=ARL8A/NM_001256129.1/0;CC=c.204+68_204+73delGTGTGT;VC=Intron;Gene=ARL8A/NM_138795.3/1;CC=c.204+68_204+73delGTGTGT;VC=Intron;DM=ARL8A/Arf;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:AACACAC,A:20:18:0:17:5,15:165,531:0.00,49.47:0.00,39.68:0.00,9.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.2,10.7:0,2:0,0:129,67:21,84:8,21:-,NM_138795.3(ARL8A) c.204+68_204+73delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 202107577 . C . . NT END=202113577;NT GT ./. 1 202113701 . G . . NT END=202117733;NT GT ./. 1 202113835 rs4989100 T G 287 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.2895,G/0.7105;PC=0.044;Gene=ARL8A/NM_001256129.1/0;CC=c.-135A>C;VC=5UTR;Gene=ARL8A/NM_138795.3/1;CC=c.-135A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:84:24:0:0:2,82:18,2489:0.42,286.96:0.37,51.71:0.05,235.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:234.5,45.3:0,0:0,0:87,108:63,42:20,17:NM_138795.3(ARL8A) c.-135A>C,NM_138795.3(ARL8A) c.-135A>C:0.67,0.67:NOT_FOUND,NOT_FOUND 1 202117828 . C . . NT END=202119438;NT GT ./. 1 202119553 . C . . NT END=202121669;NT GT ./. 1 202119734 rs12090875 C T 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5733,T/0.4267;Gene=PTPN7/NM_080588.2/0;CC=c.993-182G>A;VC=Intron;Gene=PTPN7/NM_001199797.1/1;CC=c.1098-182G>A;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.1191-182G>A;VC=Intron;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding;DM=PTPN7/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:7,7:233,221:0.00,21.22:0.00,0.00:0.00,21.22:0.00,0.99:0.00,0.00:0.00,0.99:60,60:16.9,31.6:0,0:0,0:94,138:57,13:36,6:-,NM_002832.3(PTPN7) c.1191-182G>A:-,0.39:-,NOT_FOUND 1 202121643 rs10920337 G A 111 nt VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.5613,A/0.4387;Gene=PTPN7/NM_080588.2/0;CC=c.992+27C>T;VC=Intron;Gene=PTPN7/NM_001199797.1/1;CC=c.1097+27C>T;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.1190+27C>T;VC=Intron;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding;DM=PTPN7/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:68:0:0:36,44:1179,1449:111.16,0.00:72.02,0.00:39.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,6.2:0,0:0,0:39,45:111,97:22,26:NM_002832.3(PTPN7) c.1190+27C>T,-:0.4,-:0.373885,- 1 202121828 . C . . NT END=202122852;NT GT ./. 1 202122783 rs11590076 C A 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7847,A/0.2153;Gene=PTPN7/NM_080588.2/0;CC=c.834+70G>T;VC=Intron;Gene=PTPN7/NM_001199797.1/1;CC=c.939+70G>T;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.1032+70G>T;VC=Intron;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding;DM=PTPN7/Y_phosphatase;DM=PTPN7/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,C:13:13:0:0:5,8:158,284:14.42,0.00:12.69,0.00:1.73,0.00:0.91,0.00:0.91,0.00:0.59,0.00:60,60:38.6,2.0:0,0:0,0:62,40:89,110:43,29:NM_002832.3(PTPN7) c.1032+70G>T,-:0.2,-:NOT_FOUND,- 1 202122964 . C . . NT END=202123313;NT GT ./. 1 202123291 rs201070902 T C 128 nt VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=1;Gene=PTPN7/NM_080588.2/0;CC=c.723+23A>G;VC=Intron;Gene=PTPN7/NM_001199797.1/1;CC=c.828+23A>G;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.921+23A>G;VC=Intron;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding;DM=PTPN7/Y_phosphatase;DM=PTPN7/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:49:0:0:40,19:1253,607:128.21,0.00:84.79,0.00:43.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.5,23.3:0,0:0,0:52,69:95,81:25,23:NM_002832.3(PTPN7) c.921+23A>G,-:NOT_FOUND,-:0.000077,- 1 202123452 . C . . NT END=202124660;NT GT ./. 1 202124738 . C . . NT END=202126866;NT GT ./. 1 202126952 . C . . NT END=202127245;NT GT ./. 1 202127430 . C . . NT END=202128408;NT GT ./. 1 202129120 . C . . NT END=202129672;NT GT ./. 1 202129196 rs73085637 T C 84 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.8522,C/0.1478;PC=0.999;Gene=PTPN7/NM_001199797.1/1;CC=c.175-618A>G;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.263+477A>G;VC=Intron;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding;DM=PTPN7/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:50:7:0:0:1,27,22:9,857,648:-0.05,83.97,0.00:-0.01,8.17,0.00:-0.03,75.80,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:128.0,53.4,11.8:0,0,0:0,0,0:111,114,117:40,34,34:0,30,29:NM_002832.3(PTPN7) c.263+477A>G,-:0.14,-:NOT_FOUND,- 1 202129277 rs4631763 A G 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.07428,G/0.9257;PC=0.794;Gene=PTPN7/NM_001199797.1/1;CC=c.175-699T>C;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.263+396T>C;VC=Intron;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding;DM=PTPN7/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:0:0:0:23:659:76.77:0.00:76.77:1.00:0.00:1.00:60:76.8:0:0:94:57:46:NM_002832.3(PTPN7) c.263+396T>C,NM_002832.3(PTPN7) c.263+396T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 202129826 rs4309039 T C 490 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=T/0.5767,C/0.4233;PC=0.295;Gene=PTPN7/NM_001199797.1/1;CC=c.174+689A>G;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.110A>G;ProtCh=p.Q37R;VC=Missense;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:136:102:0:0:136:4250:489.57:283.81:205.76:1.00:1.00:1.00:60:45.9:0:0:78:61:33:NM_002832.3(PTPN7) c.110A>G (p.Gln37Arg),NM_002832.3(PTPN7) c.110A>G (p.Gln37Arg):0.39,0.39:0.288623,0.288623 1 202129895 rs3935295 G A 160 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=G/0.8255,A/0.1745;Gene=PTPN7/NM_001199797.1/1;CC=c.174+620C>T;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.41C>T;ProtCh=p.T14M;VC=Missense;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:121:92:0:0:54,67:1700,2066:159.70,0.00:95.29,0.00:64.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.0,26.3:0,0:0,0:73,76:76,73:37,39:NM_002832.3(PTPN7) c.41C>T (p.Thr14Met),-:0.13,-:0.111508,- 1 202130166 rs4420146 G A 396 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=G/0.3395,A/0.6605;PC=0.007;Gene=PTPN7/NM_001199797.1/1;CC=c.174+349C>T;VC=Intron;Gene=PTPN7/NM_002832.3/0;CC=c.-231C>T;VC=5UTR;Gene=PTPN7/NR_037663.1/0;VC=NonCoding;Gene=PTPN7/NR_037664.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:116:70:0:0:112,3,1:3462,16,11:396.41,0.19,0.00:174.53,-0.01,0.00:221.88,0.20,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.1,55.7,102.0:0,0,0:0,0,0:84,75,24:67,74,96:44,14,0:NM_002832.3(PTPN7) c.-231C>T,NM_002832.3(PTPN7) c.-231C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 202130689 . G . . NT END=202163117;NT GT ./. 1 202130754 rs3934648 T C 268 nt VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.2045,C/0.7955 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:77:23:0:0:77:2311:267.73:54.56:213.17:1.00:1.00:1.00:60:35.3:0:0:102:45:29:NM_002832.3(PTPN7) c.-781-u38A>G,NM_002832.3(PTPN7) c.-781-u38A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 202163063 rs2361431 T C 190 nt VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.3191,C/0.6809 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C:52:49:0:0:52:1655:190.26:162.40:27.87:1.00:1.00:1.00:60:59.0:0:0:62:85:30:NM_001017403.1(LGR6) c.1-u55T>C,NM_001017403.1(LGR6) c.1-u55T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 1 202163330 . G . . NT END=202172904;NT GT ./. 1 202163364 rs2077598 C G 189 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.3788,G/0.6212;Gene=LGR6/NM_001017403.1/1;CC=c.212+35C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G:52:17:0:0:52:1641:188.84:37.97:150.87:1.00:1.00:1.00:60:32.7:0:0:99:44:33:NM_001017403.1(LGR6) c.212+35C>G,NM_001017403.1(LGR6) c.212+35C>G:0.6,0.6:0.663415,0.663415 1 202163516 rs1812761 C A 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3271,A/0.6729;Gene=LGR6/NM_001017403.1/1;CC=c.212+187C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:141:16.01:0.00:16.01:1.00:0.00:1.00:60:46.0:0:0:104:47:15:NM_001017403.1(LGR6) c.212+187C>A,NM_001017403.1(LGR6) c.212+187C>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 202173004 . G . . NT END=202183211;NT GT ./. 1 202183366 . G . . NT END=202194550;NT GT ./. 1 202194441 rs3010067 G C 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5323,C/0.4677,T/.;PC=0.090;Gene=LGR6/NM_001017403.1/1;CC=c.213-110G>C;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.57-110G>C;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.84-110G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:16:0:0:9,9:284,279:27.27,0.00:19.88,0.00:7.39,0.00:1.00,0.00:1.00,0.00:0.51,0.00:60,60:52.3,10.3:0,0:0,0:40,27:111,123:26,18:NM_001017403.1(LGR6) c.213-110G>C,-:0.45,-:NOT_FOUND,- 1 202194623 . G . . NT END=202197063;NT GT ./. 1 202196931 rs1452070 G A 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.28,A/0.72;Gene=LGR6/NM_001017403.1/1;CC=c.285-133G>A;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.129-133G>A;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.156-133G>A;VC=Intron;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:11:11:0:0:8,3:276,54:28.77,0.00:28.77,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.6,87.3:0,0:0,0:45,48:105,102:4,20:NM_001017403.1(LGR6) c.285-133G>A,-:0.72,-:NOT_FOUND,- 1 202197136 . G . . NT END=202205049;NT GT ./. 1 202205122 . G . . NT END=202245433;NT GT ./. 1 202205323 rs896549 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4169,G/0.5831;PC=0.030;Gene=LGR6/NM_001017403.1/1;CC=c.428+202A>G;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.272+202A>G;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.299+202A>G;VC=Intron;DM=LGR6/LRR_8;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:188:21.66:0.00:21.66:1.00:0.00:1.00:60:44.5:0:0:99:51:39:NM_001017403.1(LGR6) c.428+202A>G,NM_001017403.1(LGR6) c.428+202A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 202208371 rs72748706 C T 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9363,T/0.0637;PC=0.021;Gene=LGR6/NM_001017403.1/1;CC=c.428+3250C>T;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.272+3250C>T;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.299+3250C>T;VC=Intron;DM=LGR6/LRR_8;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:5:0:0:2,3:70,98:0.00,9.77:0.00,9.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,32.7:0,0:0,0:73,32:77,119:30,11:-,NM_001017403.1(LGR6) c.428+3250C>T:-,0.06:-,NOT_FOUND 1 202208472 . GGTGT G 12 idl,rn VT=DEL;SST=Single;DP=10;PC=0.004;Gene=LGR6/NM_001017403.1/1;CC=c.428+3389_428+3392delTGTG;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.272+3389_272+3392delTGTG;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.299+3389_299+3392delTGTG;VC=Intron;DM=LGR6/LRR_8;DM=LGR6/LRR_8;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:GGTGT,G:7:9:0:7:3,4:105,222:0.00,12.45:0.00,4.53:0.00,7.93:0.00,0.84:0.00,0.98:0.00,0.97:60,60:21.7,54.5:0,3:0,0:133,59:18,89:11,19:-,NM_001017403.1(LGR6) c.428+3352_428+3355delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 202245650 . G . . NT END=202249908;NT GT ./. 1 202249981 . G . . NT END=202266635;NT GT ./. 1 202264998 rs144453519 AGTGTGTGTGTGT A 8 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=76;PC=0.997;Gene=LGR6/NM_001017403.1/1;CC=c.717-1604_717-1593delTGTGTGTGTGTG;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.561-1604_561-1593delTGTGTGTGTGTG;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.300-1604_300-1593delTGTGTGTGTGTG;VC=Intron;DM=LGR6/LRR_8;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AGTGTGTGTGTGT,A:4:5:0:4:1,3:34,111:0.00,8.26:0.00,4.96:0.00,3.30:0.00,0.78:0.00,0.78:0.00,0.87:60,60:0.0,45.3:0,1:0,0:79,31:34,107:0,9:-,NM_001017403.1(LGR6) c.717-1637_717-1626delGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 202266547 rs788827 C T 80 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3578,T/0.6422;PC=0.050;Gene=LGR6/NM_001017403.1/1;CC=c.717-89C>T;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.561-89C>T;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.300-89C>T;VC=Intron;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:691:79.52:79.52:0.00:1.00:1.00:0.00:60:67.4:0:0:49:101:34:NM_001017403.1(LGR6) c.717-89C>T,NM_001017403.1(LGR6) c.717-89C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 202266607 rs788826 C T 147 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.4541,T/0.5459;Gene=LGR6/NM_001017403.1/1;CC=c.717-29C>T;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.561-29C>T;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.300-29C>T;VC=Intron;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:33:0:0:38:1291:147.19:104.44:42.75:1.00:1.00:1.00:60:48.8:0:0:38:100:22:NM_001017403.1(LGR6) c.717-29C>T,NM_001017403.1(LGR6) c.717-29C>T:0.55,0.55:0.447716,0.447716 1 202266705 . G . . NT END=202269976;NT GT ./. 1 202266863 rs788825 A G 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4788,G/0.5212;Gene=LGR6/NM_001017403.1/1;CC=c.785+159A>G;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.629+159A>G;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.368+159A>G;VC=Intron;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:285:32.76:0.00:32.76:1.00:0.00:1.00:60:44.1:0:0:108:43:25:NM_001017403.1(LGR6) c.785+159A>G,NM_001017403.1(LGR6) c.785+159A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 202269752 rs788821 C T 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.497,T/0.503;PC=0.007;Gene=LGR6/NM_001017403.1/1;CC=c.786-225C>T;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.630-225C>T;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.369-225C>T;VC=Intron;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:40.8:0:0:32:119:32:NM_001017403.1(LGR6) c.786-225C>T,NM_001017403.1(LGR6) c.786-225C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 202269785 rs111707317 GA G 9 end,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=LGR6/NM_001017403.1/1;CC=c.786-176delA;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.630-176delA;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.369-176delA;VC=Intron;DM=LGR6/LRR_8;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:GA,I,G:7:7:1:3:3,1,3:107,34,98:0.00,2.83,9.40:0.00,2.83,9.40:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,60:46.3,33.0,27.0:0,0,0:0,0,0:58,109,10:93,40,141:25,0,3:-,NM_001017403.1(LGR6) c.786-191delA:-,NOT_FOUND:-,NOT_FOUND 1 202270049 . G . . NT END=202270291;NT GT ./. 1 202270364 . G . . NT END=202272406;NT GT ./. 1 202272476 . G . . NT END=202273686;NT GT ./. 1 202273759 . G . . NT END=202274811;NT GT ./. 1 202274878 . G . . NT END=202275995;NT GT ./. 1 202274936 rs705762 T C 119 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.4641,C/0.5359;Gene=LGR6/NM_001017403.1/1;CC=c.1136+59T>C;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.980+59T>C;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.719+59T>C;VC=Intron;DM=LGR6/LRR_8;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:C,G:34:12:0:0:33,1:1034,12:118.52,0.35:28.33,0.00:90.19,0.35:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,12.0:0,0:0,0:118,50:31,99:15,0:NM_001017403.1(LGR6) c.1136+59T>C,NM_001017403.1(LGR6) c.1136+59T>C:0.54,0.54:0.45576,0.45576 1 202275198 rs10920384 C A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4966,A/0.5034;Gene=LGR6/NM_001017403.1/1;CC=c.1136+321C>A;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.980+321C>A;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.719+321C>A;VC=Intron;DM=LGR6/LRR_8;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:194:22.26:0.00:22.26:1.00:0.00:1.00:60:43.3:0:0:125:26:8:NM_001017403.1(LGR6) c.1136+321C>A,NM_001017403.1(LGR6) c.1136+321C>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 202276068 . G . . NT END=202276457;NT GT ./. 1 202276494 rs896551 C T 244 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.4661,T/0.5339;Gene=LGR6/NM_001017403.1/1;CC=c.1245C>T;ProtCh=p.P415=;VC=Silent;Gene=LGR6/NM_021636.2/0;CC=c.1089C>T;ProtCh=p.P363=;VC=Silent;Gene=LGR6/NM_001017404.1/0;CC=c.828C>T;ProtCh=p.P276=;VC=Silent;DM=LGR6/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:T:63:47:0:0:63:2143:244.34:110.24:134.10:1.00:1.00:1.00:60:38.0:0:0:91:51:25:NM_001017403.1(LGR6) c.1245C>T (p.(=)),NM_001017403.1(LGR6) c.1245C>T (p.(=)):0.54,0.54:0.438029,0.438029 1 202276530 . G . . NT END=202278178;NT GT ./. 1 202278305 . G . . NT END=202279324;NT GT ./. 1 202279486 . G . . NT END=202283929;NT GT ./. 1 202279709 rs705766 A G 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3858,G/0.6142;Gene=LGR6/NM_001017403.1/1;CC=c.1567+224A>G;VC=Intron;Gene=LGR6/NM_021636.2/0;CC=c.1411+224A>G;VC=Intron;Gene=LGR6/NM_001017404.1/0;CC=c.1150+224A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:332:37.97:0.00:37.97:1.00:0.00:1.00:60:52.3:0:0:75:76:38:NM_001017403.1(LGR6) c.1567+224A>G,NM_001017403.1(LGR6) c.1567+224A>G:0.62,0.62:NOT_FOUND,NOT_FOUND 1 202284011 . G . . NT END=202287079;NT GT ./. 1 202287206 rs788795 T C 474 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=T/0.39,C/0.61;Gene=LGR6/NM_001017403.1/1;CC=c.1775T>C;ProtCh=p.V592A;VC=Missense;Gene=LGR6/NM_021636.2/0;CC=c.1619T>C;ProtCh=p.V540A;VC=Missense;Gene=LGR6/NM_001017404.1/0;CC=c.1358T>C;ProtCh=p.V453A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:127:95:0:0:126,1:4161,30:473.57,0.00:260.01,0.00:213.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,19.0:0,0:0,0:78,72:65,79:39,0:NM_001017403.1(LGR6) c.1775T>C (p.Val592Ala),NM_001017403.1(LGR6) c.1775T>C (p.Val592Ala):0.62,0.62:0.528141,0.528141 1 202287537 rs788794 G A 481 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.472,A/0.528;Gene=LGR6/NM_001017403.1/1;CC=c.2106G>A;ProtCh=p.A702=;VC=Silent;Gene=LGR6/NM_021636.2/0;CC=c.1950G>A;ProtCh=p.A650=;VC=Silent;Gene=LGR6/NM_001017404.1/0;CC=c.1689G>A;ProtCh=p.A563=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:132:96:0:0:131,1:4189,10:480.72,0.08:259.38,0.08:221.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,10.0:0,0:0,0:80,148:63,3:36,0:NM_001017403.1(LGR6) c.2106G>A (p.(=)),NM_001017403.1(LGR6) c.2106G>A (p.(=)):0.53,0.53:0.422899,0.422899 1 202287813 rs788793 T C 420 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.3896,C/0.6104;PC=0.011;Gene=LGR6/NM_001017403.1/1;CC=c.2382T>C;ProtCh=p.F794=;VC=Silent;Gene=LGR6/NM_021636.2/0;CC=c.2226T>C;ProtCh=p.F742=;VC=Silent;Gene=LGR6/NM_001017404.1/0;CC=c.1965T>C;ProtCh=p.F655=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:115:79:0:0:1,114:13,3663:0.18,419.88:0.00,237.48:0.18,182.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:81.0,37.8:0,0:0,0:1,71:149,71:0,38:NM_001017403.1(LGR6) c.2382T>C (p.(=)),NM_001017403.1(LGR6) c.2382T>C (p.(=)):0.62,0.62:0.530832,0.530832 1 202288336 . A . . NT END=202300962;NT GT ./. 1 202288462 rs788792 C A 102 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.3898,A/0.6102;Gene=LGR6/NM_001017403.1/1;CC=c.*127C>A;VC=3UTR;Gene=LGR6/NM_021636.2/0;CC=c.*127C>A;VC=3UTR;Gene=LGR6/NM_001017404.1/0;CC=c.*127C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:0:0:0:30:874:101.58:0.00:101.58:1.00:0.00:1.00:60:40.1:0:0:106:43:27:NM_001017403.1(LGR6) c.*127C>A,NM_001017403.1(LGR6) c.*127C>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 202301089 . C . . NT END=202302137;NT GT ./. 1 202302222 . C . . NT END=202302364;NT GT ./. 1 202302464 . C . . NT END=202302577;NT GT ./. 1 202302684 . C . . NT END=202304116;NT GT ./. 1 202304187 . C . . NT END=202304773;NT GT ./. 1 202304883 . G . . NT END=202317979;NT GT ./. 1 202318271 . G . . NT END=202385914;NT GT ./. 1 202318316 rs930734 A C 304 nt VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.522,C/0.478;Gene=PPP1R12B/NM_001167857.1/0;CC=c.291+46A>C;VC=Intron;Gene=PPP1R12B/NM_001167858.1/0;CC=c.291+46A>C;VC=Intron;Gene=PPP1R12B/NM_002481.3/1;CC=c.291+46A>C;VC=Intron;DM=PPP1R12B/Ank_4;DM=PPP1R12B/Ank_5;DM=PPP1R12B/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:85:24:0:0:85:2634:303.70:59.40:244.29:1.00:1.00:1.00:60:35.9:0:0:108:37:22:NM_002481.3(PPP1R12B) c.291+46A>C,NM_002481.3(PPP1R12B) c.291+46A>C:0.47,0.47:0.379677,0.379677 1 202386046 . G . . NT END=202386400;NT GT ./. 1 202386075 rs2843413 T C 279 nt VT=SNV;PN=G;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.03055,C/0.9694;Gene=PPP1R12B/NM_001167857.1/0;CC=c.422+30T>C;VC=Intron;Gene=PPP1R12B/NM_001167858.1/0;CC=c.422+30T>C;VC=Intron;Gene=PPP1R12B/NM_002481.3/1;CC=c.422+30T>C;VC=Intron;DM=PPP1R12B/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:29:0:0:74:2438:278.96:79.62:199.35:1.00:1.00:1.00:60:42.0:0:0:90:56:32:NM_002481.3(PPP1R12B) c.422+30T>C,NM_002481.3(PPP1R12B) c.422+30T>C:0.97,0.97:0.967553,0.967553 1 202386531 . G . . NT END=202391747;NT GT ./. 1 202391867 . G . . NT END=202394693;NT GT ./. 1 202394854 . G . . NT END=202396167;NT GT ./. 1 202396313 . G . . NT END=202397982;NT GT ./. 1 202398058 . G . . NT END=202399858;NT GT ./. 1 202399939 . G . . NT END=202400607;NT GT ./. 1 202400748 . G . . NT END=202403783;NT GT ./. 1 202403897 . G . . NT END=202406948;NT GT ./. 1 202407371 . G . . NT END=202409833;NT GT ./. 1 202408518 rs4950849 C T 81 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5012,T/0.4988;PC=0.537;Gene=PPP1R12B/NM_002481.3/1;CC=c.1459-1316C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G,T:23:16:0:0:1,22:11,711:0.39,81.17:0.39,48.18:0.00,32.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,70.5:0,0:0,0:111,71:40,79:0,25:NM_002481.3(PPP1R12B) c.1459-1316C>T,NM_002481.3(PPP1R12B) c.1459-1316C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 202408594 rs2293551 C T 135 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.5022,T/0.4978;Gene=PPP1R12B/NM_002481.3/1;CC=c.1459-1240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C,G,T:39:29:0:0:1,1,37:12,13,1191:0.00,0.38,134.67:0.00,-0.01,78.99:0.00,0.39,55.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:237.0,130.0,51.7:0,0,0:0,0,0:77,33,53:74,117,97:0,0,29:NM_002481.3(PPP1R12B) c.1459-1240C>T,NM_002481.3(PPP1R12B) c.1459-1240C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 202408751 rs2293552 A C 88 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.501,C/0.499;PC=0.017;Gene=PPP1R12B/NM_002481.3/1;CC=c.1459-1083A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:6:0:0:23:773:88.27:14.36:73.91:1.00:1.00:1.00:60:51.6:0:0:121:28:15:NM_002481.3(PPP1R12B) c.1459-1083A>C,NM_002481.3(PPP1R12B) c.1459-1083A>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 202408800 rs2253826 T C 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.39,C/0.61;Gene=PPP1R12B/NM_002481.3/1;CC=c.1459-1034T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:349:40.99:0.00:40.99:1.00:0.00:1.00:60:74.9:0:0:115:36:28:NM_002481.3(PPP1R12B) c.1459-1034T>C,NM_002481.3(PPP1R12B) c.1459-1034T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 202409917 . G . . NT END=202411574;NT GT ./. 1 202411701 . G . . NT END=202412214;NT GT ./. 1 202412256 . G . . NT END=202414173;NT GT ./. 1 202414357 . G . . NT END=202418116;NT GT ./. 1 202418300 . G . . NT END=202431870;NT GT ./. 1 202421200 rs6690252 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7194,A/0.2806;PC=0.139;Gene=PPP1R12B/NM_002481.3/1;CC=c.1850+2901G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:7.85:7.85:1.00:1.00:1.00:60:55.5:0:0:94:56:46:NM_002481.3(PPP1R12B) c.1850+2901G>A,NM_002481.3(PPP1R12B) c.1850+2901G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 1 202432002 rs1819043 A G 222 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.4601,G/0.5399;PC=0.100;Gene=PPP1R12B/NM_002481.3/1;CC=c.1850+13703A>G;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.-696A>G;VC=5UTR;Gene=PPP1R12B/NM_032104.2/0;CC=c.-696A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:G:61:46:0:0:61:1930:221.90:125.18:96.72:1.00:1.00:1.00:60:40.9:0:0:62:85:33:NM_002481.3(PPP1R12B) c.1850+13703A>G,NM_002481.3(PPP1R12B) c.1850+13703A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 202432160 rs3767421 T G 177 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.501,G/0.499;Gene=PPP1R12B/NM_002481.3/1;CC=c.1850+13861T>G;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.-538T>G;VC=5UTR;Gene=PPP1R12B/NM_032104.2/0;CC=c.-538T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:G:49:21:0:0:49:1535:176.76:54.10:122.66:1.00:1.00:1.00:60:36.4:0:0:73:77:23:NM_002481.3(PPP1R12B) c.1850+13861T>G,NM_002481.3(PPP1R12B) c.1850+13861T>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 202432226 . G . . NT END=202457660;NT GT ./. 1 202440936 rs372816810 T A 79 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.5347,A/0.4653;DB;DBA=NA;PAF=NA;Gene=PPP1R12B/NM_002481.3/1;CC=c.1851-16725T>A;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.-473+8711T>A;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.-473+8711T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A,T,I:29:27:1:0:26,2,1:702,37,33:79.32,0.00,2.28:70.36,0.00,2.28:8.95,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.2,111.0,0.0:0,0,0:0,0,0:26,108,77:121,29,74:24,20,0:NM_002481.3(PPP1R12B) c.1851-16725T>A,NM_002481.3(PPP1R12B) c.1851-16725T>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 202457752 . G . . NT END=202462241;NT GT ./. 1 202457784 rs3820374 T A 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.5258,A/0.4742;Gene=PPP1R12B/NM_002481.3/1;CC=c.1941+33T>A;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.-382+33T>A;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.-382+33T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:12:0:0:24:824:93.85:27.84:66.01:1.00:1.00:1.00:60:52.4:0:0:90:61:42:NM_002481.3(PPP1R12B) c.1941+33T>A,NM_002481.3(PPP1R12B) c.1941+33T>A:0.47,0.47:0.373904,0.373904 1 202457873 rs3767415 T C 37 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4898,C/0.5102;Gene=PPP1R12B/NM_002481.3/1;CC=c.1941+122T>C;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.-382+122T>C;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.-382+122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:1:0:0:10:324:37.17:1.89:35.28:1.00:1.00:1.00:60:65.5:0:0:125:25:13:NM_002481.3(PPP1R12B) c.1941+122T>C,NM_002481.3(PPP1R12B) c.1941+122T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 202461982 rs705742 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.379,A/0.621;Gene=PPP1R12B/NM_002481.3/1;CC=c.1942-260G>A;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.-381-260G>A;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.-381-260G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:67.0:0:0:51:99:11:NM_002481.3(PPP1R12B) c.1942-260G>A,NM_002481.3(PPP1R12B) c.1942-260G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 202462023 rs3767412 G A 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.53,A/0.47;PC=0.066;Gene=PPP1R12B/NM_002481.3/1;CC=c.1942-219G>A;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.-381-219G>A;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.-381-219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:265:30.32:30.32:0.00:1.00:1.00:0.00:60:51.1:0:0:53:98:37:NM_002481.3(PPP1R12B) c.1942-219G>A,NM_002481.3(PPP1R12B) c.1942-219G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 202462446 . G . . NT END=202464420;NT GT ./. 1 202464280 rs12405771 G A,T 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4898,A/0.5102 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:16:A,T:13:13:0:0:10,3:257,31:29.19,2.64:29.19,2.64:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.6,116.0:0,0:0,0:31,120:119,25:17,6:NM_002481.3(PPP1R12B) c.2146-141G>A,NM_002481.3(PPP1R12B) c.2146-141G>T:0.5,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 202464611 . G . . NT END=202464697;NT GT ./. 1 202464811 . G . . NT END=202465908;NT GT ./. 1 202465951 . G . . NT END=202470986;NT GT ./. 1 202471315 rs3767411 G A 120 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.5008,A/0.4992;Gene=PPP1R12B/NM_002481.3/1;CC=c.2490+5365G>A;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.168+5365G>A;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.168+5365G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:20:0:0:36:1032:120.16:59.27:60.89:1.00:1.00:1.00:60:44.3:0:0:75:68:32:NM_002481.3(PPP1R12B) c.2490+5365G>A,NM_002481.3(PPP1R12B) c.2490+5365G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 1 202471633 . a . . NT END=202509142;NT GT ./. 1 202509370 . G . . NT END=202528004;NT GT ./. 1 202528022 . G . . NT END=202531905;NT GT ./. 1 202531646 rs705750 T G 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2929,G/0.7071;PC=0.010;Gene=PPP1R12B/NM_002481.3/1;CC=c.2508-260T>G;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.186-260T>G;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.186-260T>G;VC=Intron;Gene=PPP1R12B/NM_001197131.1/0;CC=c.120-260T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:7:0:0:7:184:21.61:21.61:0.00:1.00:1.00:0.00:60:71.0:0:0:16:135:14:NM_002481.3(PPP1R12B) c.2508-260T>G,NM_002481.3(PPP1R12B) c.2508-260T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 202531741 rs2249811 C T 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5046,T/0.4954;Gene=PPP1R12B/NM_002481.3/1;CC=c.2508-165C>T;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.186-165C>T;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.186-165C>T;VC=Intron;Gene=PPP1R12B/NM_001197131.1/0;CC=c.120-165C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:369:43.08:43.08:0.00:1.00:1.00:0.00:60:64.7:0:0:79:72:24:NM_002481.3(PPP1R12B) c.2508-165C>T,NM_002481.3(PPP1R12B) c.2508-165C>T:0.49,0.49:0.407394,0.407394 1 202532051 . G . . NT END=202533570;NT GT ./. 1 202533676 . G . . NT END=202536905;NT GT ./. 1 202533880 rs925532 C T 14 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5244,T/0.4756;PC=0.017;Gene=PPP1R12B/NM_002481.3/1;CC=c.2757+205C>T;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.435+205C>T;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.435+205C>T;VC=Intron;Gene=PPP1R12B/NM_001197131.1/0;CC=c.369+205C>T;VC=Intron;DM=PPP1R12B/PRKG1_interact GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:119:13.81:0.00:13.81:1.00:0.00:1.00:60:56.8:0:0:143:7:3:NM_002481.3(PPP1R12B) c.2757+205C>T,NM_002481.3(PPP1R12B) c.2757+205C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 202536848 rs2292489 C T 100 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.5242,T/0.4758;Gene=PPP1R12B/NM_002481.3/1;CC=c.2758-58C>T;VC=Intron;Gene=PPP1R12B/NM_032103.2/0;CC=c.436-58C>T;VC=Intron;Gene=PPP1R12B/NM_032104.2/0;CC=c.436-58C>T;VC=Intron;Gene=PPP1R12B/NM_001197131.1/0;CC=c.370-58C>T;VC=Intron;DM=PPP1R12B/PRKG1_interact GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:23:0:0:28:864:99.69:65.49:34.19:1.00:1.00:1.00:60:39.9:0:0:38:101:26:NM_002481.3(PPP1R12B) c.2758-58C>T,NM_002481.3(PPP1R12B) c.2758-58C>T:0.47,0.47:0.393342,0.393342 1 202536960 . G . . NT END=202538274;NT GT ./. 1 202538326 . G . . NT END=202544129;NT GT ./. 1 202544311 . G . . NT END=202549601;NT GT ./. 1 202549689 . G . . NT END=202565884;NT GT ./. 1 202549820 rs138098373 C T 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9978,T/0.002196;NP=9;PC=0.001;Gene=PPP1R12B/NM_002481.3/1;CC=c.*132C>T;VC=3UTR;Gene=PPP1R12B/NM_032103.2/0;CC=c.*132C>T;VC=3UTR;Gene=PPP1R12B/NM_032104.2/0;CC=c.*265C>T;VC=3UTR;Gene=PPP1R12B/NM_001197131.1/0;CC=c.*132C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,T:14:0:0:0:5,9:150,290:0.00,29.36:0.00,0.00:0.00,29.36:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.4,47.9:0,0:0,0:108,86:43,65:12,22:-,NM_002481.3(PPP1R12B) c.*132C>T:-,0.0023:-,NOT_FOUND 1 202566092 . C . . NT END=202568345;NT GT ./. 1 202566200 rs9633344 T C 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.3508,C/0.6492;Gene=SYT2/NM_001136504.1/0;CC=c.1054-109A>G;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.1054-109A>G;VC=Intron;DM=SYT2/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:0:0:0:24:720:83.44:0.00:83.44:1.00:0.00:1.00:60:32.4:0:0:81:69:28:NM_001136504.1(SYT2) c.1054-109A>G,NM_001136504.1(SYT2) c.1054-109A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 202568282 rs72750619 C T 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.9996,T/0.0003994;NP=10;Gene=SYT2/NM_001136504.1/0;CC=c.1053+64G>A;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.1053+64G>A;VC=Intron;DM=SYT2/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:46:0:0:28,21:907,666:0.00,62.08:0.00,51.57:0.00,10.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,37.8:0,0:0,0:59,41:90,107:29,19:-,NM_001136504.1(SYT2) c.1053+64G>A:-,0.0005:-,NOT_FOUND 1 202568480 . C . . NT END=202569484;NT GT ./. 1 202568735 rs907697 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.635,C/0.365;Gene=SYT2/NM_001136504.1/0;CC=c.920-256A>G;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.920-256A>G;VC=Intron;DM=SYT2/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:C,T:5:0:0:0:4,1:140,10:14.88,0.00:0.00,0.00:14.88,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:35.0,98.0:0,0:0,0:95,126:55,25:46,0:NM_001136504.1(SYT2) c.920-256A>G,-:0.39,-:NOT_FOUND,- 1 202569603 . C . . NT END=202571017;NT GT ./. 1 202571186 . C . . NT END=202571505;NT GT ./. 1 202571674 . C . . NT END=202572126;NT GT ./. 1 202572105 rs55968420 GCC G 210 nt VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=GCC/0.3632,G/0.6368;DB;DBA=NA;PAF=GCC/0.3632,G/0.6368;NP=2603;PC=0.009;Gene=SYT2/NM_001136504.1/0;CC=c.465+20_465+21delGG;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.465+20_465+21delGG;VC=Intron;DM=SYT2/C2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:GCC,T,G:72:54:0:67:6,1,65:117,10,1881:0.00,0.10,210.33:0.00,0.10,126.64:0.00,-0.00,83.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:12.0,37.0,19.2:0,0,0:0,0,0:130,136,43:6,6,105:18,0,21:NM_001136504.1(SYT2) c.465+20_465+21delGG,NM_001136504.1(SYT2) c.465+20_465+21delGG:0.64,0.64:0.580751,0.580751 1 202572247 . C . . NT END=202573582;NT GT ./. 1 202573294 rs585234 C G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=575;Gene=SYT2/NM_001136504.1/0;CC=c.345+289G>C;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.345+289G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:133:15.21:11.23:3.98:1.00:1.00:1.00:60:61.2:0:0:49:102:17:NM_001136504.1(SYT2) c.345+289G>C,NM_001136504.1(SYT2) c.345+289G>C:1,1:NOT_FOUND,NOT_FOUND 1 202573750 . C . . NT END=202574722;NT GT ./. 1 202573944 rs147518528 TGC T 7 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=SYT2/NM_001136504.1/0;CC=c.179-197_179-196delGC;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.179-197_179-196delGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:TGC,T:16:0:0:4:12,4:335,89:0.00,6.90:0.00,0.00:0.00,6.90:0.00,0.75:0.00,0.00:0.00,0.75:60,60:30.2,105.0:6,0:0,0:122,85:22,62:23,2:-,NM_001136504.1(SYT2) c.179-197_179-196delGC:-,NOT_FOUND:-,NOT_FOUND 1 202574784 rs1968583 G A 258 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.6412,A/0.3588;PC=1.000;Gene=SYT2/NM_001136504.1/0;CC=c.117C>T;ProtCh=p.S39=;VC=Silent;Gene=SYT2/NM_177402.4/1;CC=c.117C>T;ProtCh=p.S39=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:72:58:0:0:72:2234:257.62:152.65:104.97:1.00:1.00:1.00:60:37.0:0:0:66:79:31:NM_001136504.1(SYT2) c.117C>T (p.(=)),NM_001136504.1(SYT2) c.117C>T (p.(=)):0.38,0.38:0.403045,0.403045 1 202574901 . G . . NT END=202596596;NT GT ./. 1 202587528 rs71142543 AGTGT A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=203;Gene=SYT2/NM_001136504.1/0;CC=c.-17-12615_-17-12612delACAC;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.-17-12615_-17-12612delACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:AGTGT,A:3:3:0:3:1,2:12,101:0.00,6.86:0.00,3.58:0.00,3.28:0.00,0.51:0.00,0.89:0.00,0.89:60,60:91.0,0.0:0,1:0,0:125,30:26,121:0,3:-,NM_001136504.1(SYT2) c.-17-12615_-17-12612delACAC:-,NOT_FOUND:-,NOT_FOUND 1 202594226 rs62642834 A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=75;PC=0.001;Gene=SYT2/NM_001136504.1/0;CC=c.-18+18180T>C;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.-17-19309T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:6:2:0:0:2,4:67,138:0.00,14.05:0.00,3.90:0.00,10.15:0.00,0.93:0.00,0.91:0.00,0.93:41,60:66.5,104.5:2,0:0,0:67,75:73,10:2,26:-,NM_001136504.1(SYT2) c.-18+18180T>C:-,NOT_FOUND:-,NOT_FOUND 1 202596736 . C . . NT END=202599473;NT GT ./. 1 202599560 . C . . NT END=202601163;NT GT ./. 1 202601210 . G . . NT END=202601658;NT GT ./. 1 202601745 . A . . NT END=202605547;NT GT ./. 1 202605569 rs566782 G A 177 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=SYT2/NM_001136504.1/0;CC=c.-18+6837C>T;VC=Intron;Gene=SYT2/NM_177402.4/1;CC=c.-17-30652C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A,C:50:24:0:0:49,1:1542,33:177.05,2.08:54.64,0.00:122.41,2.08:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,93.0:0,0:0,0:85,65:60,86:33,0:NM_001136504.1(SYT2) c.-18+6837C>T,NM_001136504.1(SYT2) c.-18+6837C>T:1,1:NOT_FOUND,NOT_FOUND 1 202605644 . g . . NT END=202608600;NT GT ./. 1 202608658 . T . . NT END=202608742;NT GT ./. 1 202608981 . G . . NT END=202698163;NT GT ./. 1 202636594 . CGTGTGTGT C 9 sb,rn VT=DEL;SST=Single;DP=4;PC=0.001;Gene=SYT2/NM_177402.4/1;CC=c.-18+42784_-18+42791delACACACAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CGTGTGTGT,C:4:4:0:3:1,3:33,88:0.00,9.25:0.00,7.78:0.00,1.48:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,31.3:0,0:0,0:58,16:33,104:0,3:-,NM_177402.4(SYT2) c.-18+42784_-18+42791delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 202698302 . C . . NT END=202698834;NT GT ./. 1 202699156 . C . . NT END=202700036;NT GT ./. 1 202700192 . C . . NT END=202700955;NT GT ./. 1 202701068 . C . . NT END=202702528;NT GT ./. 1 202702353 rs4950791 T C 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.2879,C/0.7121;Gene=KDM5B/NM_001314042/0;CC=c.4017+176A>G;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.3909+176A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:20:0:0:20:656:75.10:75.10:0.00:1.00:1.00:0.00:60:36.1:0:0:53:96:29:NM_006618.3(KDM5B) c.3909+176A>G,NM_006618.3(KDM5B) c.3909+176A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 202703015 . C . . NT END=202704556;NT GT ./. 1 202703053 rs4310498 G A 192 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.2893,A/0.7107;PC=0.060;Gene=KDM5B/NM_001314042/0;CC=c.3532-39C>T;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.3424-39C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A:50:16:0:0:50:1686:192.44:42.38:150.06:1.00:1.00:1.00:60:43.0:0:0:91:58:29:NM_006618.3(KDM5B) c.3424-39C>T,NM_006618.3(KDM5B) c.3424-39C>T:0.74,0.74:0.736281,0.736281 1 202704716 . C . . NT END=202705340;NT GT ./. 1 202704860 rs4325196 G A 44 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2624,A/0.7376;Gene=KDM5B/NM_001314042/0;CC=c.3373-145C>T;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.3265-145C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:1:0:0:15:372:44.20:1.94:42.26:1.00:1.00:1.00:60:42.9:0:0:87:64:26:NM_006618.3(KDM5B) c.3265-145C>T,NM_006618.3(KDM5B) c.3265-145C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 1 202705455 rs1141109 G C 180 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.3604,C/0.6396,T/.;Gene=KDM5B/NM_001314042/0;CC=c.3258C>G;ProtCh=p.P1086=;VC=Silent;Gene=KDM5B/NM_006618.3/1;CC=c.3150C>G;ProtCh=p.P1050=;VC=Silent;DM=KDM5B/PLU-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:C:51:31:0:0:51:1560:180.27:79.16:101.10:1.00:1.00:1.00:60:34.9:0:0:75:68:35:NM_006618.3(KDM5B) c.3150C>G (p.(=)),NM_006618.3(KDM5B) c.3150C>G (p.(=)):0.68,0.68:0.641627,0.641627 1 202705521 . C . . NT END=202709801;NT GT ./. 1 202709624 rs71524469 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6715,A/0.3285;NP=122;PC=0.872;Gene=KDM5B/NM_001314042/0;CC=c.3192+178C>T;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.3084+178C>T;VC=Intron;DM=KDM5B/PLU-1;DM=KDM5B/PHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:2:A,G,T:8:8:0:0:6,1,1:177,14,11:19.20,0.00,0.66:19.20,0.00,0.66:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,50:34.7,0.0,49.0:0,0,0:0,0,0:17,20,83:133,131,68:14,0,0:NM_006618.3(KDM5B) c.3084+178C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 202709941 . C . . NT END=202710494;NT GT ./. 1 202710320 rs3795600 T C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8524,C/0.1476;Gene=KDM5B/NM_001314042/0;CC=c.3053+175A>G;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.2945+175A>G;VC=Intron;DM=KDM5B/PLU-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:10:7:0:0:5,5:139,150:13.25,0.00:8.73,0.00:4.53,0.00:0.95,0.00:0.99,0.00:0.89,0.00:60,60:70.4,28.0:0,0:0,0:94,21:57,128:39,17:NM_006618.3(KDM5B) c.2945+175A>G,-:0.18,-:NOT_FOUND,- 1 202710851 . C . . NT END=202711518;NT GT ./. 1 202711634 . C . . NT END=202711782;NT GT ./. 1 202711934 . C . . NT END=202714985;NT GT ./. 1 202715111 . C . . NT END=202715269;NT GT ./. 1 202715244 rs3216061 G GA 92 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3614,GA/0.6386,GAA/.;NP=2811;Gene=KDM5B/NM_001314042/0;CC=c.2306+25dupT;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.2198+25dupT;VC=Intron;DM=KDM5B/PLU-1;DM=KDM5B/PLU-1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:G,GA:33:20:29:0:5,28:154,878:0.00,92.21:0.00,40.42:0.00,51.79:0.00,1.00:0.00,1.00:0.00,1.00:60,70:33.8,39.0:0,1:0,0:139,57:9,94:6,37:-,NM_006618.3(KDM5B) c.2198+25_2198+26insT:-,0.68:-,0.641054 1 202715284 rs1141108 G A 149 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.3608,A/0.6392;PC=0.999;Gene=KDM5B/NM_001314042/0;CC=c.2292C>T;ProtCh=p.Y764=;VC=Silent;Gene=KDM5B/NM_006618.3/1;CC=c.2184C>T;ProtCh=p.Y728=;VC=Silent;DM=KDM5B/PLU-1;DM=KDM5B/PLU-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:A:43:24:0:0:43:1291:149.45:70.11:79.34:1.00:1.00:1.00:70:39.8:0:0:52:92:28:NM_006618.3(KDM5B) c.2184C>T (p.(=)),NM_006618.3(KDM5B) c.2184C>T (p.(=)):0.68,0.68:0.641627,0.641627 1 202715452 . C . . NT END=202718072;NT GT ./. 1 202715537 rs71564197 G GA 8 idl,rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.005;Gene=KDM5B/NM_001314042/0;CC=c.2125-87dupT;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.2017-87dupT;VC=Intron;DM=KDM5B/PLU-1;DM=KDM5B/zf-C5HC2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,G,GA,D:17:3:5:2:1,10,4,2:8,275,124,54:0.01,0.00,8.21,3.94:-0.06,0.00,-0.27,-0.13:0.08,0.00,8.48,4.07:0.00,0.00,0.73,0.00:0.00,0.00,0.57,0.00:0.00,0.00,0.96,0.00:60,60,60,60:19.0,12.2,48.8,42.0:0,0,1,0:0,0,0,0:46,135,78,110:105,9,73,40:0,12,38,20:-,NM_006618.3(KDM5B) c.2017-87_2017-86insT:-,NOT_FOUND:-,NOT_FOUND 1 202718028 rs1892163 A G 140 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.4796,G/0.5204;Gene=KDM5B/NM_001314042/0;CC=c.2124+45T>C;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.2016+45T>C;VC=Intron;DM=KDM5B/PLU-1;DM=KDM5B/zf-C5HC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:30:0:0:37:1227:140.31:102.39:37.92:1.00:1.00:1.00:60:37.8:0:0:54:97:30:NM_006618.3(KDM5B) c.2016+45T>C,NM_006618.3(KDM5B) c.2016+45T>C:0.57,0.57:0.598831,0.598831 1 202718202 rs1892164 G A 279 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.4798,A/0.5202;Gene=KDM5B/NM_001314042/0;CC=c.1995C>T;ProtCh=p.H665=;VC=Silent;Gene=KDM5B/NM_006618.3/1;CC=c.1887C>T;ProtCh=p.H629=;VC=Silent;DM=KDM5B/PLU-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:75:49:0:0:75:2436:279.20:123.36:155.84:1.00:1.00:1.00:60:37.5:0:0:78:70:33:NM_006618.3(KDM5B) c.1887C>T (p.(=)),NM_006618.3(KDM5B) c.1887C>T (p.(=)):0.57,0.57:0.598416,0.598416 1 202718268 . C . . NT END=202719786;NT GT ./. 1 202719907 . C . . NT END=202722032;NT GT ./. 1 202721848 rs12133311 G A 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3606,A/0.6394;Gene=KDM5B/NM_001314042/0;CC=c.1809+185C>T;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.1701+185C>T;VC=Intron;DM=KDM5B/PLU-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:399:45.62:45.62:0.00:1.00:1.00:0.00:60:36.9:0:0:52:98:24:NM_006618.3(KDM5B) c.1701+185C>T,NM_006618.3(KDM5B) c.1701+185C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 1 202722196 . C . . NT END=202724398;NT GT ./. 1 202722277 rs4950742 G A 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.4798,A/0.5202;PC=0.088;Gene=KDM5B/NM_001314042/0;CC=c.1647-82C>T;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.1539-82C>T;VC=Intron;DM=KDM5B/JmjC;DM=KDM5B/zf-C5HC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:11:0:0:32:1060:121.23:27.24:93.99:1.00:1.00:1.00:60:50.7:0:0:119:29:16:NM_006618.3(KDM5B) c.1539-82C>T,NM_006618.3(KDM5B) c.1539-82C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 202722348 rs4950793 A G 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2578,G/0.7422;Gene=KDM5B/NM_001314042/0;CC=c.1647-153T>C;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.1539-153T>C;VC=Intron;DM=KDM5B/JmjC;DM=KDM5B/zf-C5HC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:0:0:0:15:480:55.15:0.00:55.15:1.00:0.00:1.00:60:55.3:0:0:91:60:42:NM_006618.3(KDM5B) c.1539-153T>C,NM_006618.3(KDM5B) c.1539-153T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 202724581 . C . . NT END=202725485;NT GT ./. 1 202725286 rs3820153 A G 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3604,G/0.6396;Gene=KDM5B/NM_001314042/0;CC=c.1464+200T>C;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.1356+200T>C;VC=Intron;DM=KDM5B/JmjC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:218:25.13:25.13:0.00:1.00:1.00:0.00:60:35.7:0:0:57:93:22:NM_006618.3(KDM5B) c.1356+200T>C,NM_006618.3(KDM5B) c.1356+200T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 202725645 . C . . NT END=202727518;NT GT ./. 1 202727639 . C . . NT END=202729542;NT GT ./. 1 202729334 rs61246047 TGG T 36 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=86;PC=0.114;Gene=KDM5B/NM_001314042/0;CC=c.1185+207_1185+208delCC;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.1077+207_1077+208delCC;VC=Intron;DM=KDM5B/JmjC;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:10:10:309:35.66:35.66:0.00:1.00:1.00:0.00:60:32.8:0:0:68:82:43:NM_006618.3(KDM5B) c.1077+207_1077+208delCC,NM_006618.3(KDM5B) c.1077+207_1077+208delCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 202729386 rs12135963 G A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8421,A/0.1579;PC=0.004;Gene=KDM5B/NM_001314042/0;CC=c.1185+157C>T;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.1077+157C>T;VC=Intron;DM=KDM5B/JmjC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,G:9:9:0:0:6,3:195,81:19.90,0.00:19.90,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:32.5,32.3:0,0:0,0:67,108:82,42:8,21:NM_006618.3(KDM5B) c.1077+157C>T,-:0.19,-:NOT_FOUND,- 1 202729702 . C . . NT END=202731826;NT GT ./. 1 202731937 . C . . NT END=202733176;NT GT ./. 1 202731986 rs140328663 C CCTCAA 29 sb,nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3762,CACTCA/.,CCTCAA/0.6238;NP=2156;Gene=KDM5B/NM_001314042/0;CC=c.917-51_917-50insTTGAG;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.809-51_809-50insTTGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,CCTCAA:11:3:9:0:2,9:71,271:0.00,29.12:0.00,0.74:0.00,28.39:0.00,1.00:0.00,0.99:0.00,1.00:60,70:11.0,6.0:0,0:0,0:139,76:5,75:3,31:-,NM_006618.3(KDM5B) c.809-51_809-50insTTGAG:-,NOT_FOUND:-,0.717002 1 202733238 rs3196669 C T 125 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.3646,T/0.6354;PC=1.000;Gene=KDM5B/NM_001314042/0;CC=c.855G>A;ProtCh=p.T285=;VC=Silent;Gene=KDM5B/NM_006618.3/1;CC=c.747G>A;ProtCh=p.T249=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:23:0:0:32:1094:124.63:58.17:66.46:1.00:1.00:1.00:60:41.8:0:0:88:57:27:NM_006618.3(KDM5B) c.747G>A (p.(=)),NM_006618.3(KDM5B) c.747G>A (p.(=)):0.68,0.68:0.642088,0.642088 1 202733274 . C . . NT END=202736053;NT GT ./. 1 202736189 . C . . NT END=202742245;NT GT ./. 1 202736222 rs373292954 CT C 13 rn VT=DEL;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=353;Gene=KDM5B/NM_001314042/0;CC=c.577-35delA;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.577-35delA;VC=Intron;DM=KDM5B/PHD;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:CT,T,I,C:87:39:4:7:75,1,4,7:2450,34,132,205:0.00,1.56,8.23,13.46:0.00,0.85,5.63,5.47:0.00,0.71,2.60,8.00:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.98:60,60,60,60:13.1,73.0,0.0,24.4:0,1,0,0:0,0,0,0:93,19,62,83:49,131,65,67:28,0,15,17:-,NM_006618.3(KDM5B) c.577-35delA:-,NOT_FOUND:-,0.15024 1 202736619 rs10800864 C G 64 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3638,A/.,G/0.6362;PC=0.004;Gene=KDM5B/NM_001314042/0;CC=c.577-431G>C;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.577-431G>C;VC=Intron;DM=KDM5B/PHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:1:0:0:17:557:63.80:1.99:61.82:1.00:1.00:1.00:60:56.2:0:0:99:52:32:NM_006618.3(KDM5B) c.577-431G>C,NM_006618.3(KDM5B) c.577-431G>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 202736626 rs12409769 T C 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.85,C/0.15;PC=0.001;Gene=KDM5B/NM_001314042/0;CC=c.577-438A>G;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.577-438A>G;VC=Intron;DM=KDM5B/PHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:1:0:0:9,7:225,237:21.91,0.00:-0.18,0.00:22.09,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:74.8,35.7:0,0:0,0:113,76:38,75:25,25:NM_006618.3(KDM5B) c.577-438A>G,-:0.18,-:NOT_FOUND,- 1 202742417 . C . . NT END=202743740;NT GT ./. 1 202743634 rs12410981 G T 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.851,T/0.149;PC=0.018;Gene=KDM5B/NM_001314042/0;CC=c.405+107C>A;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.405+107C>A;VC=Intron;DM=KDM5B/ARID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:21:0:0:9,12:248,349:0.00,34.41:0.00,32.82:0.00,1.59:0.00,1.00:0.00,1.00:0.00,0.85:60,60:36.3,32.1:0,0:0,0:103,82:46,67:39,37:-,NM_006618.3(KDM5B) c.405+107C>A:-,0.18:-,NOT_FOUND 1 202743864 . C . . NT END=202746144;NT GT ./. 1 202744192 rs11337396 AC A 18 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AC/0.3662,A/0.6338;NP=6;PC=0.005;Gene=KDM5B/NM_001314042/0;CC=c.283-330delG;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.283-330delG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:5:5:154:17.78:3.63:14.16:1.00:1.00:1.00:60:40.2:0:0:117:34:22:NM_006618.3(KDM5B) c.283-330delG,NM_006618.3(KDM5B) c.283-330delG:0.68,0.68:NOT_FOUND,NOT_FOUND 1 202744222 rs6668689 T G 13 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3608,G/0.6392;Gene=KDM5B/NM_001314042/0;CC=c.283-359A>C;VC=Intron;Gene=KDM5B/NM_006618.3/1;CC=c.283-359A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:116:13.48:1.99:11.49:1.00:1.00:1.00:60:58.2:0:0:87:64:26:NM_006618.3(KDM5B) c.283-359A>C,NM_006618.3(KDM5B) c.283-359A>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 202746223 . C . . NT END=202777229;NT GT ./. 1 202777434 . C . . NT END=202849853;NT GT ./. 1 202849606 rs10753924 C T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.04573,T/0.9543;PC=0.053;Gene=RABIF/NM_002871.4/1;CC=c.*500G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:177:20.08:20.08:0.00:1.00:1.00:0.00:60:42.0:0:0:51:100:24:NM_002871.4(RABIF) c.=,NM_002871.4(RABIF) c.=:0.96,0.96:NOT_FOUND,NOT_FOUND 1 202849723 rs1131906 G A 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4912,A/0.5088;Gene=RABIF/NM_002871.4/1;CC=c.*383C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:15:0:0:9,7:294,212:28.95,0.00:24.21,0.00:4.74,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:60.7,11.7:0,0:0,0:68,80:82,69:23,33:NM_002871.4(RABIF) c.*383C>T,-:0.52,-:NOT_FOUND,- 1 202849770 rs1131905 T C 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.4912,C/0.5088;Gene=RABIF/NM_002871.4/1;CC=c.*336A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:20:0:0:13,11:351,354:34.06,0.00:25.16,0.00:8.91,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:64.0,22.2:0,0:0,0:59,46:90,105:33,40:NM_002871.4(RABIF) c.*336A>G,-:0.52,-:NOT_FOUND,- 1 202850100 . C . . NT END=202858100;NT GT ./. 1 202858227 . C . . NT END=202861660;NT GT ./. 1 202861463 rs201067798 TCTG T 14 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TCTG/0.5497,T/0.4503;NP=479;PC=0.284;Gene=KLHL12/NM_001303109.1/0;CC=c.*195_*197delCAG;VC=3UTR;Gene=KLHL12/NM_021633.3/1;CC=c.*195_*197delCAG;VC=3UTR;Gene=KLHL12/NM_001303051.1/0;CC=c.*195_*197delCAG;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:TCTG,T:10:10:0:5:5,5:149,144:0.00,13.76:0.00,13.76:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:6.0,11.2:0,0:0,0:133,81:18,70:16,18:-,NM_021633.2(KLHL12) c.*195_*197delCAG:-,0.48:-,NOT_FOUND 1 202861566 rs1042990 A G 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.5499,G/0.4501;PC=0.984;Gene=KLHL12/NM_001303109.1/0;CC=c.*95T>C;VC=3UTR;Gene=KLHL12/NM_021633.3/1;CC=c.*95T>C;VC=3UTR;Gene=KLHL12/NM_001303051.1/0;CC=c.*95T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:25:24:0:0:16,8,1:510,230,11:0.00,20.17,0.09:0.00,17.36,0.11:0.00,2.82,-0.02:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.71,0.00:60,60,43:16.4,39.4,157.0:0,0,0:0,0,0:33,36,48:117,112,103:20,28,0:-,NM_021633.2(KLHL12) c.*95T>C:-,0.47:-,NOT_FOUND 1 202861788 . C . . NT END=202862366;NT GT ./. 1 202862554 . C . . NT END=202863311;NT GT ./. 1 202863411 . C . . NT END=202863718;NT GT ./. 1 202863878 . C . . NT END=202864649;NT GT ./. 1 202864846 . C . . NT END=202865981;NT GT ./. 1 202866089 . C . . NT END=202878137;NT GT ./. 1 202878253 . C . . NT END=202880181;NT GT ./. 1 202880332 . C . . NT END=202887298;NT GT ./. 1 202880458 . G T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;PC=0.066;Gene=KLHL12/NM_001303109.1/0;CC=c.568-127C>A;VC=Intron;Gene=KLHL12/NM_021633.3/1;CC=c.568-127C>A;VC=Intron;Gene=KLHL12/NM_001303051.1/0;CC=c.682-127C>A;VC=Intron;DM=KLHL12/BACK;DM=KLHL12/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:22:1:0:0:1,10,11:10,344,349:0.14,0.00,33.82:0.00,0.00,1.79:0.14,0.00,32.04:0.00,0.00,1.00:0.00,0.00,0.67:0.00,0.00,1.00:60,70,60:125.0,9.7,42.8:0,0,0:0,0,0:76,87,116:62,61,35:0,26,31:-,NM_021633.2(KLHL12) c.568-127C>A:-,NOT_FOUND:-,NOT_FOUND 1 202880547 rs58045648 A AT 9 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2943,AT/0.4287;DB;DBA=NA;PAF=A/0.2943,T/0.277;NP=38;NP=50;PC=0.060;Gene=KLHL12/NM_001303109.1/0;CC=c.568-217_568-216insA;VC=Intron;Gene=KLHL12/NM_021633.3/1;CC=c.568-217_568-216insA;VC=Intron;Gene=KLHL12/NM_001303051.1/0;CC=c.682-217_682-216insA;VC=Intron;DM=KLHL12/BACK;DM=KLHL12/BACK;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,AT:9:0:4:0:5,4:131,94:0.00,8.63:0.00,0.00:0.00,8.63:0.00,0.85:0.00,0.00:0.00,0.85:60,70:39.0,31.8:0,0:0,0:117,105:34,45:28,28:-,NM_021633.2(KLHL12) c.568-217_568-216insA:-,NOT_FOUND:-,NOT_FOUND 1 202881302 rs6692075 C T 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5521,T/0.4479;Gene=KLHL12/NM_001303109.1/0;CC=c.568-971G>A;VC=Intron;Gene=KLHL12/NM_021633.3/1;CC=c.568-971G>A;VC=Intron;Gene=KLHL12/NM_001303051.1/0;CC=c.682-971G>A;VC=Intron;DM=KLHL12/BACK;DM=KLHL12/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:22:0:0:19,8:573,270:0.00,23.71:0.00,18.29:0.00,5.42:0.00,0.98:0.00,1.00:0.00,0.99:60,60:11.3,33.8:0,0:0,0:54,62:97,84:30,35:-,NM_021633.2(KLHL12) c.568-971G>A:-,0.48:-,NOT_FOUND 1 202881609 rs10753927 T C 67 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.1873,C/0.8127;Gene=KLHL12/NM_001303109.1/0;CC=c.568-1278A>G;VC=Intron;Gene=KLHL12/NM_021633.3/1;CC=c.568-1278A>G;VC=Intron;Gene=KLHL12/NM_001303051.1/0;CC=c.682-1278A>G;VC=Intron;DM=KLHL12/BACK;DM=KLHL12/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:25:0:0:22,16:675,506:66.75,0.00:41.33,0.00:25.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,10.1:0,0:0,0:50,74:100,75:24,22:NM_021633.2(KLHL12) c.568-1278A>G,-:0.83,-:NOT_FOUND,- 1 202887295 rs2275734 G A 96 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.5617,A/0.4383;PC=0.327;Gene=KLHL12/NM_001303109.1/0;CC=c.567+4C>T;VC=Intron;Gene=KLHL12/NM_021633.3/1;CC=c.567+4C>T;VC=Intron;Gene=KLHL12/NM_001303051.1/0;CC=c.681+4C>T;VC=Intron;DM=KLHL12/BACK;DM=KLHL12/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:51:0:0:30,25:978,768:95.63,0.00:68.99,0.00:26.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,2.4:0,0:0,0:54,52:97,99:32,37:NM_021633.2(KLHL12) c.567+4C>T,-:0.47,-:0.545133,- 1 202887517 . C . . NT END=202888882;NT GT ./. 1 202889037 . C . . NT END=202894095;NT GT ./. 1 202889207 rs7520522 T C 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.05911,C/0.9409;Gene=KLHL12/NM_001303109.1/0;CC=c.196-171A>G;VC=Intron;Gene=KLHL12/NM_021633.3/1;CC=c.196-171A>G;VC=Intron;Gene=KLHL12/NM_001303051.1/0;CC=c.310-171A>G;VC=Intron;DM=KLHL12/BTB;DM=KLHL12/BTB;DM=KLHL12/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:301:34.39:0.00:34.39:1.00:0.00:1.00:60:35.7:0:0:78:73:36:NM_021633.2(KLHL12) c.196-171A>G,NM_021633.2(KLHL12) c.196-171A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 202893919 rs6667300 C T 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1839,T/0.8161;Gene=KLHL12/NM_001303109.1/0;CC=c.195+177G>A;VC=Intron;Gene=KLHL12/NM_021633.3/1;CC=c.195+177G>A;VC=Intron;Gene=KLHL12/NM_001303051.1/0;CC=c.309+177G>A;VC=Intron;DM=KLHL12/BTB;DM=KLHL12/BTB;DM=KLHL12/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:9,12:260,373:0.00,36.79:0.00,36.79:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.9,35.0:0,0:0,0:48,50:103,99:26,22:-,NM_021633.2(KLHL12) c.195+177G>A:-,0.83:-,NOT_FOUND 1 202894336 . C . . NT END=202896216;NT GT ./. 1 202896278 rs533165554 G A 189 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=G/0.9994,A/0.000599;PC=0.994;Gene=KLHL12/NM_001303109.1/0;CC=c.-107C>T;VC=5UTR;Gene=KLHL12/NM_021633.3/1;CC=c.-107C>T;VC=5UTR;Gene=KLHL12/NM_001303051.1/0;CC=c.69+1331C>T;VC=Intron;DM=KLHL12/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:140:111:0:0:59,81:2024,2496:189.20,0.00:112.30,0.00:76.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,9.7:0,0:0,0:97,75:53,62:30,32:NM_021633.2(KLHL12) c.-107C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 202896372 . G . . NT END=202897608;NT GT ./. 1 202897402 rs368999167 C CAA 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4788,CA/0.5212;DB;DBA=NA;PAF=C/0.4788,CA/0.5212,CAA/.;NP=5;PC=0.189;Gene=KLHL12/NM_001303051.1/0;CC=c.69+206_69+207insTT;VC=Intron;DM=KLHL12/Kelch_1;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,CAA:6:7:4:0:3,3:84,118:0.00,8.10:0.00,8.10:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:9.7,47.7:0,1:0,0:40,45:110,105:32,18:-,NM_021633.2(KLHL12) c.-200-u1032_-200-u1031insTT:-,NOT_FOUND:-,NOT_FOUND 1 202897431 rs10800882 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5429,G/0.4571;PC=0.002;Gene=KLHL12/NM_001303051.1/0;CC=c.69+178T>C;VC=Intron;DM=KLHL12/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:8:8:0:0:3,5:101,158:0.00,15.88:0.00,15.88:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:9.7,54.6:0,0:0,0:69,43:81,103:32,37:-,NM_021633.2(KLHL12) c.-200-u1060T>C:-,0.46:-,NOT_FOUND 1 202897678 . T . . NT END=202910700;NT GT ./. 1 202910830 . C . . NT END=202911152;NT GT ./. 1 202911347 . C . . NT END=202912885;NT GT ./. 1 202913074 . C . . NT END=202914110;NT GT ./. 1 202914298 . C . . NT END=202915566;NT GT ./. 1 202914356 rs1342387 T C 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.4641,C/0.5359;Gene=ADIPOR1/NM_001290553.1/0;CC=c.431-59A>G;VC=Intron;Gene=ADIPOR1/NM_001290557.1/1;CC=c.431-59A>G;VC=Intron;Gene=ADIPOR1/NM_015999.5/0;CC=c.431-59A>G;VC=Intron;Gene=ADIPOR1/NM_001290629.1/0;CC=c.431-59A>G;VC=Intron;DM=ADIPOR1/HlyIII;DM=ADIPOR1/HlyIII;DM=ADIPOR1/HlyIII GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:13:0:0:22,28:569,892:52.35,0.00:13.62,0.00:38.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.4,15.5:0,0:0,0:100,93:50,56:30,29:NM_015999.4(ADIPOR1) c.431-59A>G,-:0.54,-:NOT_FOUND,- 1 202914553 rs1342386 C T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4639,T/0.5361;PC=0.202;Gene=ADIPOR1/NM_001290553.1/0;CC=c.431-256G>A;VC=Intron;Gene=ADIPOR1/NM_001290557.1/1;CC=c.431-256G>A;VC=Intron;Gene=ADIPOR1/NM_015999.5/0;CC=c.431-256G>A;VC=Intron;Gene=ADIPOR1/NM_001290629.1/0;CC=c.431-256G>A;VC=Intron;DM=ADIPOR1/HlyIII;DM=ADIPOR1/HlyIII;DM=ADIPOR1/HlyIII GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:9:0:0:0:6,3:164,97:0.00,8.65:0.00,0.00:0.00,8.65:0.00,0.64:0.00,0.00:0.00,0.64:60,60:32.8,44.7:0,0:0,0:25,121:125,30:8,21:-,NM_015999.4(ADIPOR1) c.431-256G>A:-,0.54:-,NOT_FOUND 1 202915739 . C . . NT END=202917431;NT GT ./. 1 202917549 . C . . NT END=202920057;NT GT ./. 1 202920199 . C . . NT END=202931654;NT GT ./. 1 202920300 rs2275737 A C 99 nt VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.3638,C/0.6362;PC=0.112;Gene=ADIPOR1/NM_001290553.1/0;CC=c.-94-8T>G;VC=Intron;Gene=ADIPOR1/NM_001290557.1/1;CC=c.-94-8T>G;VC=Intron;Gene=ADIPOR1/NM_015999.5/0;CC=c.-94-8T>G;VC=Intron;Gene=ADIPOR1/NM_001290629.1/0;CC=c.-94-8T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:10:0:0:32,31:1030,1029:0.00,98.70:0.00,12.50:0.00,86.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,68.4:0,0:0,0:105,105:45,46:26,25:-,NM_015999.4(ADIPOR1) c.-94-8T>G:-,0.65:-,NOT_FOUND 1 202920304 rs2275738 T C 93 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.3574,C/0.6426;PC=1.000;Gene=ADIPOR1/NM_001290553.1/0;CC=c.-94-12A>G;VC=Intron;Gene=ADIPOR1/NM_001290557.1/1;CC=c.-94-12A>G;VC=Intron;Gene=ADIPOR1/NM_015999.5/0;CC=c.-94-12A>G;VC=Intron;Gene=ADIPOR1/NM_001290629.1/0;CC=c.-94-12A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:10:0:0:29,30:970,968:93.06,0.00:12.15,0.00:80.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.2,5.1:0,0:0,0:103,101:47,49:29,30:NM_015999.4(ADIPOR1) c.-94-12A>G,-:0.65,-:NOT_FOUND,- 1 202931828 . C . . NT END=202932193;NT GT ./. 1 202931839 rs2232854 G A 144 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.6863,A/0.3137;Gene=CYB5R1/NM_016243.2/1;CC=c.746-12C>T;VC=Intron;DM=CYB5R1/NAD_binding_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:29:0:0:44,43:1490,1345:143.80,0.00:23.03,0.00:120.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,10.2:0,0:0,0:93,107:56,39:39,35:NM_016243.2(CYB5R1) c.746-12C>T,-:0.35,-:0.305474,- 1 202931958 rs2232853 G A 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8628,A/0.1372;PC=0.004;Gene=CYB5R1/NM_016243.2/1;CC=c.746-131C>T;VC=Intron;DM=CYB5R1/NAD_binding_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:3:0:0:11,12:362,395:34.53,0.00:-0.85,0.00:35.38,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:76.4,6.1:0,0:0,0:102,101:49,49:43,32:NM_016243.2(CYB5R1) c.746-131C>T,-:0.17,-:NOT_FOUND,- 1 202931998 rs2232852 C A 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5276,A/0.4724;Gene=CYB5R1/NM_016243.2/1;CC=c.746-171G>T;VC=Intron;DM=CYB5R1/NAD_binding_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:8:0:0:9,12:309,374:28.97,0.00:4.86,0.00:24.11,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:64.8,14.6:0,0:0,0:52,58:99,91:18,45:NM_016243.2(CYB5R1) c.746-171G>T,-:0.47,-:NOT_FOUND,- 1 202932294 . C . . NT END=202932769;NT GT ./. 1 202932856 . C . . NT END=202933739;NT GT ./. 1 202933657 rs2232847 T A 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.7802,A/0.2198;Gene=CYB5R1/NM_016243.2/1;CC=c.559+83A>T;VC=Intron;DM=CYB5R1/NAD_binding_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:20:0:0:13,7:407,221:41.28,0.00:37.64,0.00:3.64,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:36.7,22.9:0,0:0,0:28,23:123,128:25,13:NM_016243.2(CYB5R1) c.559+83A>T,-:0.24,-:NOT_FOUND,- 1 202933824 . C . . NT END=202934498;NT GT ./. 1 202933992 rs1418445 G C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5313,C/0.4687;Gene=CYB5R1/NM_016243.2/1;CC=c.476-169C>G;VC=Intron;DM=CYB5R1/NAD_binding_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,G:9:0:0:0:3,6:105,196:9.44,0.00:0.00,0.00:9.44,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:43.0,24.0:0,0:0,0:127,110:24,39:15,19:NM_016243.2(CYB5R1) c.476-169C>G,-:0.47,-:NOT_FOUND,- 1 202934629 . C . . NT END=202935014;NT GT ./. 1 202934761 rs141825609 C CT 12 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1;NP=40;PC=0.041;Gene=CYB5R1/NM_016243.2/1;CC=c.346-134_346-133insA;VC=Intron;DM=CYB5R1/NAD_binding_1;DM=CYB5R1/FAD_binding_6;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,CT:25:2:5:0:20,5:581,149:0.00,11.86:0.00,-0.15:0.00,12.01:0.00,0.83:0.00,0.47:0.00,0.98:60,70:32.9,45.2:10,0:0,0:106,28:44,122:29,10:-,NM_016243.2(CYB5R1) c.346-134_346-133insA:-,0.23:-,NOT_FOUND 1 202934764 rs56932949 TC T 25 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=TC/0.2173,T/0.7827,TT/.;PC=0.012;Gene=CYB5R1/NM_016243.2/1;CC=c.346-137delG;VC=Intron;DM=CYB5R1/NAD_binding_1;DM=CYB5R1/FAD_binding_6;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:22:2:0:10:13,9:422,267:0.00,24.53:0.00,-0.34:0.00,24.87:0.00,1.00:0.00,0.71:0.00,1.00:70,60:51.5,15.2:5,0:0,0:33,115:118,36:17,18:-,NM_016243.2(CYB5R1) c.346-137delG:-,0.85:-,NOT_FOUND 1 202934765 rs397860855 C T 46 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1775,T/0.8225;DB;DBA=NA;PAF=NA;PC=0.012;Gene=CYB5R1/NM_016243.2/1;CC=c.346-137G>A;VC=Intron;DM=CYB5R1/NAD_binding_1;DM=CYB5R1/FAD_binding_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:2:0:10:13:399:46.06:5.72:40.35:1.00:1.00:1.00:70:51.5:5:0:34:117:17:NM_016243.2(CYB5R1) c.346-137G>A,NM_016243.2(CYB5R1) c.346-137G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 202935122 . C . . NT END=202935655;NT GT ./. 1 202935729 . C . . NT END=202935876;NT GT ./. 1 202936027 . C . . NT END=202936318;NT GT ./. 1 202936334 . G . . NT END=202976593;NT GT ./. 1 202936456 rs12137082 G C 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8634,C/0.1366;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,G:16:8:0:0:11,5:330,157:33.90,0.00:20.17,0.00:13.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.3,56.6:0,0:0,0:122,130:24,4:7,17:NM_016243.2(CYB5R1) c.-71-u52C>G,-:0.17,-:NOT_FOUND,- 1 202936491 rs575425988 G T 10 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:G,T:5:2:0:0:1,4:21,94:0.00,10.19:0.00,0.95:0.00,9.24:0.00,0.96:0.00,0.97:0.00,1.00:60,60:24.0,80.0:0,0:0,0:119,122:4,9:0,10:-,NM_016243.2(CYB5R1) c.-71-u87C>A:-,NOT_FOUND:-,NOT_FOUND 1 202976703 . G . . NT END=202976901;NT GT ./. 1 202976992 . G . . NT END=202977770;NT GT ./. 1 202977581 rs55745312 CTT C 14 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CTT/0.09105,C/0.9089;DB;DBA=NA;PAF=CTT/0.09105,C/0.9089;NP=9;Gene=TMEM183A/NM_138391.4/1;CC=c.200-173_200-172delTT;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.200-173_200-172delTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:CTT,C:9:10:0:6:4,5:129,175:0.00,14.07:0.00,14.07:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:64.2,89.2:0,1:0,0:48,50:102,100:10,18:-,NM_138391.4(TMEM183A) c.200-189_200-188delTT:-,NOT_FOUND:-,NOT_FOUND 1 202977665 rs397747911 G GT 51 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.521,GT/.,GTTTTTTTTC/0.002396,GTTTTTTTTT/0.4766;DB;DBA=NA;PAF=NA;NP=1427;Gene=TMEM183A/NM_138391.4/1;CC=c.200-98dupT;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.200-98dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:31:32:18:1:14,17:376,550:0.00,50.57:0.00,50.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.4,23.8:0,1:0,0:63,31:88,119:33,21:-,NM_138391.4(TMEM183A) c.200-106_200-105insT:-,0.45:-,NOT_FOUND 1 202977939 . G . . NT END=202984016;NT GT ./. 1 202978032 rs1418444 C G 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.5401,G/0.4599,T/.;PC=0.023;Gene=TMEM183A/NM_138391.4/1;CC=c.367+94C>G;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.367+94C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:44:5:0:0:22,22:673,698:0.00,67.04:0.00,7.00:0.00,60.04:0.00,1.00:0.00,0.96:0.00,1.00:60,60:4.6,45.2:0,0:0,0:97,98:54,52:32,23:-,NM_138391.4(TMEM183A) c.367+94C>G:-,0.46:-,NOT_FOUND 1 202983752 rs71142584 CA C 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CA/0.5104,C/0.4896;DB;DBA=NA;PAF=CA/0.5104,C/0.4896;NP=36;PC=0.002;Gene=TMEM183A/NM_138391.4/1;CC=c.368-254delA;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.368-254delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,CA,C:6:6:0:3:1,2,3:11,65,99:0.66,0.00,9.83:0.66,0.00,9.83:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:60.0,12.0,0.0:0,0,0:0,0,0:40,40,34:110,110,116:0,29,22:-,NM_138391.4(TMEM183A) c.368-264delA:-,NOT_FOUND:-,NOT_FOUND 1 202984177 . G . . NT END=202985087;NT GT ./. 1 202985269 . G . . NT END=202986883;NT GT ./. 1 202987048 . G . . NT END=202987608;NT GT ./. 1 202987690 . G . . NT END=202989920;NT GT ./. 1 202987770 rs782788 T C 91 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.651,C/0.349;PC=0.024;Gene=TMEM183A/NM_138391.4/1;CC=c.789+81T>C;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.789+81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:7:0:0:27,17:912,542:91.33,0.00:9.47,0.00:81.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.2,3.8:0,0:0,0:96,95:55,56:36,39:NM_138391.4(TMEM183A) c.789+81T>C,-:0.34,-:NOT_FOUND,- 1 202987796 rs782787 G A 67 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6669,A/0.3331;PC=0.001;Gene=TMEM183A/NM_138391.4/1;CC=c.789+107G>A;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.789+107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:1:0:0:20,14:676,452:67.14,0.00:1.92,0.00:65.21,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:66.4,2.2:0,0:0,0:71,70:78,79:28,41:NM_138391.4(TMEM183A) c.789+107G>A,-:0.33,-:NOT_FOUND,- 1 202990077 . G . . NT END=202991982;NT GT ./. 1 202990110 rs539813188 CTTT C 48 idl,nt VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;PC=0.131;Gene=TMEM183A/NM_138391.4/1;CC=c.945+49_945+51delTTT;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.945+49_945+51delTTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CTTT,T,I,C:59:30:1:30:1,37,1,1,19:11,1107,10,33,818:-0.06,0.00,-0.10,1.72,48.17:0.07,0.00,-0.10,0.87,8.91:-0.14,0.00,0.01,0.84,39.25:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:44,60,60,60,60:27.0,20.9,85.0,48.0,32.7:0,1,0,0,9:0,0,0,0,0:105,133,90,86,102:19,16,40,51,48:0,14,0,0,15:-,NM_138391.4(TMEM183A) c.945+35_945+37delTTT:-,NOT_FOUND:-,NOT_FOUND 1 202991745 rs12727457 C T 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6843,T/0.3157;PC=0.001;Gene=TMEM183A/NM_138391.4/1;CC=c.946-238C>T;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.946-238C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:9,7:309,216:0.00,20.18:0.00,20.18:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.6,53.4:0,0:0,0:46,38:105,113:9,17:-,NM_138391.4(TMEM183A) c.946-238C>T:-,0.31:-,NOT_FOUND 1 202991830 rs112434420 C CA 7 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=2;PC=0.009;Gene=TMEM183A/NM_138391.4/1;CC=c.946-137_946-136insA;VC=Intron;Gene=TMEM183B/NM_001079809.1/1;CC=c.946-137_946-136insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,CA,D:21:25:5:4:16,3,2:518,161,114:0.00,7.18,4.09:0.00,7.18,4.09:0.00,0.00,0.00:0.00,0.46,0.00:0.00,0.46,0.00:0.00,0.00,0.00:60,60,60:39.4,69.7,89.0:0,2,2:0,0,0:77,66,88:69,85,57:47,60,20:-,NM_138391.4(TMEM183A) c.946-153_946-152insA:-,NOT_FOUND:-,NOT_FOUND 1 202992169 . T . . NT END=203008136;NT GT ./. 1 203008174 rs61821060 G C 223 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=2127;PC=0.985;Gene=PPFIA4/NM_001304331.1/1;CC=c.38G>C;ProtCh=p.R13P;VC=Missense;Gene=PPFIA4/NM_001304332.1/0;CC=c.38G>C;ProtCh=p.R13P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:C,T:63:59:0:0:62,1:1944,8:223.41,0.09:176.04,0.09:47.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,175.0:0,0:0,0:60,47:86,71:25,0:chr1 g.203008173G>C (intergenic),chr1 g.203008173G>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 1 203008371 . G . . NT END=203012524;NT GT ./. 1 203012627 . G . . NT END=203013058;NT GT ./. 1 203013224 . G . . NT END=203013506;NT GT ./. 1 203013582 . G . . NT END=203013823;NT GT ./. 1 203013914 . G . . NT END=203014495;NT GT ./. 1 203014688 . G . . NT END=203014968;NT GT ./. 1 203015116 . G . . NT END=203015375;NT GT ./. 1 203015511 . G . . NT END=203017354;NT GT ./. 1 203015789 rs79482349 C CT 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.402,CT/0.598;DB;DBA=NA;PAF=C/0.402,CT/0.598;DB;DBA=NA;PAF=NA;NP=101;NP=213;PC=0.025;Gene=PPFIA4/NM_001304331.1/1;CC=c.1140+294_1140+295insT;VC=Intron;Gene=PPFIA4/NM_001304332.1/0;CC=c.1140+294_1140+295insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,CT:7:0:3:0:4,3:87,94:0.00,8.78:0.00,0.00:0.00,8.78:0.00,0.69:0.00,0.00:0.00,0.69:60,70:20.2,24.0:0,0:0,0:112,77:39,73:26,19:-,NM_015053.1(PPFIA4) c.-593-u4522_-593-u4521insT:-,NOT_FOUND:-,NOT_FOUND 1 203017087 rs754894 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3618,T/0.6382;Gene=PPFIA4/NM_001304331.1/1;CC=c.1141-268C>T;VC=Intron;Gene=PPFIA4/NM_001304332.1/0;CC=c.1141-268C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:40.0:0:0:21:130:14:NM_015053.1(PPFIA4) c.-593-u3224C>T,NM_015053.1(PPFIA4) c.-593-u3224C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 203017439 . G . . NT END=203017710;NT GT ./. 1 203017575 rs72754766 A G 70 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.9876,G/0.01238;Gene=PPFIA4/NM_001304331.1/1;CC=c.1225-136A>G;VC=Intron;Gene=PPFIA4/NM_001304332.1/0;CC=c.1225-136A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:47:35:0:0:23,1,23:727,8,730:0.00,-0.09,70.11:0.00,-0.02,53.29:0.00,-0.08,16.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.4,50.0,47.6:0,0,0:0,0,0:39,139,57:112,12,94:25,0,29:-,NM_015053.1(PPFIA4) c.-593-u2736A>G:-,0.02:-,NOT_FOUND 1 203017843 . G . . NT END=203018045;NT GT ./. 1 203018109 . G . . NT END=203018803;NT GT ./. 1 203018896 . G . . NT END=203020310;NT GT ./. 1 203019229 rs705758 T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04353,C/0.9565;Gene=PPFIA4/NM_001304331.1/1;CC=c.1511+334T>C;VC=Intron;Gene=PPFIA4/NM_001304332.1/0;CC=c.1511+334T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:42.5:0:0:104:47:28:NM_015053.1(PPFIA4) c.-593-u1082T>C,NM_015053.1(PPFIA4) c.-593-u1082T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 203020474 . a . . NT END=203020794;NT GT ./. 1 203021006 . G . . NT END=203022880;NT GT ./. 1 203023090 . G . . NT END=203024559;NT GT ./. 1 203024801 . G . . NT END=203025247;NT GT ./. 1 203025284 . G . . NT END=203025502;NT GT ./. 1 203025637 . G . . NT END=203025911;NT GT ./. 1 203026079 . G . . NT END=203028305;NT GT ./. 1 203026203 rs903362 T G 243 nt VT=SNV;PN=T;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.001198,G/0.9988;Gene=PPFIA4/NM_001304331.1/1;CC=c.2407+125T>G;VC=Intron;Gene=PPFIA4/NM_001304332.1/0;CC=c.2407+125T>G;VC=Intron;DM=PPFIA4/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G:64:13:0:0:64:2127:243.15:31.88:211.27:1.00:1.00:1.00:60:39.0:0:0:106:44:17:NM_015053.1(PPFIA4) c.889+125T>G,NM_015053.1(PPFIA4) c.889+125T>G:1,1:NOT_FOUND,NOT_FOUND 1 203028400 . G . . NT END=203028897;NT GT ./. 1 203028980 . G . . NT END=203029344;NT GT ./. 1 203029546 . G . . NT END=203030097;NT GT ./. 1 203030161 . G . . NT END=203030779;NT GT ./. 1 203030807 . G . . NT END=203032955;NT GT ./. 1 203032877 rs72754783 C G 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.9996,G/0.0003994;NP=10;Gene=PPFIA4/NM_001304331.1/1;CC=c.2875-79C>G;VC=Intron;Gene=PPFIA4/NM_001304332.1/0;CC=c.2848-79C>G;VC=Intron;DM=PPFIA4/SAM_1;DM=PPFIA4/SAM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:30:30:0:0:15,15:490,497:0.00,47.81:0.00,38.87:0.00,8.94:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.7,37.7:0,0:0,0:42,32:109,118:15,11:-,NM_015053.1(PPFIA4) c.1357-79C>G:-,NOT_FOUND:-,NOT_FOUND 1 203033132 . G . . NT END=203036822;NT GT ./. 1 203036921 . G . . NT END=203037580;NT GT ./. 1 203037757 . G . . NT END=203040819;NT GT ./. 1 203040673 rs9803710 A G 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1242;PC=0.018;Gene=PPFIA4/NM_001304331.1/1;CC=c.3325-147A>G;VC=Intron;Gene=PPFIA4/NM_001304332.1/0;CC=c.3298-147A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:275:31.32:31.32:0.00:1.00:1.00:0.00:60:37.6:0:0:64:86:21:NM_015053.1(PPFIA4) c.1807-147A>G,NM_015053.1(PPFIA4) c.1807-147A>G:1,1:NOT_FOUND,NOT_FOUND 1 203040889 . G . . NT END=203044704;NT GT ./. 1 203044784 rs200298818 T C 153 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=NA;NP=5;PC=1.000;Gene=PPFIA4/NM_001304331.1/1;CC=c.3473T>C;ProtCh=p.M1158T;VC=Missense;Gene=PPFIA4/NM_001304332.1/0;CC=c.3446T>C;ProtCh=p.M1149T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:111:85:0:0:50,61:1621,1917:152.82,0.00:91.05,0.00:61.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,8.0:0,0:0,0:72,69:68,82:43,32:NM_015053.1(PPFIA4) c.1955T>C (p.Met652Thr),-:NOT_FOUND,-:0.00084,- 1 203044886 . G . . NT END=203045468;NT GT ./. 1 203045519 . C . . NT END=203053037;NT GT ./. 1 203053160 . C . . NT END=203053774;NT GT ./. 1 203053323 rs56263425 A AGT 7 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=9;Gene=MYOG/NM_002479.5/1;CC=c.554-165_554-164insAC;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,T,AGT,D:22:0:5:1:16,2,3,1:503,39,164,35:0.00,2.14,7.40,2.30:0.00,0.00,0.00,0.00:0.00,2.14,7.40,2.30:0.00,0.00,0.47,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.47,0.00:60,60,60,60:11.0,123.0,10.3,0.0:0,0,2,0:0,0,0,0:115,107,41,68:34,34,110,82:8,15,14,0:-,NM_002479.5(MYOG) c.554-165_554-164insAC:-,NOT_FOUND:-,NOT_FOUND 1 203053768 rs903356 T C 218 nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.04393,C/0.9561;PC=0.350;Gene=MYOG/NM_002479.5/1;CC=c.553+7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:C:56:52:0:0:56:1916:218.28:154.30:63.98:1.00:1.00:1.00:60:42.5:0:0:50:99:28:NM_002479.5(MYOG) c.553+7A>G,NM_002479.5(MYOG) c.553+7A>G:0.96,0.96:0.973089,0.973089 1 203053857 . C . . NT END=203054618;NT GT ./. 1 203053889 rs12143972 C T 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.973,T/0.02696;PC=0.539;Gene=MYOG/NM_002479.5/1;CC=c.472-33G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:29:0:0:32,28:1098,871:0.00,82.40:0.00,15.52:0.00,66.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.7,42.5:0,0:0,0:100,95:47,49:19,22:-,NM_002479.5(MYOG) c.472-33G>A:-,0.04:-,0.055658 1 203054523 rs923950 A T 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.04593,T/0.9541;Gene=MYOG/NM_002479.5/1;CC=c.471+96T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:21:0:0:21:680:77.98:77.98:0.00:1.00:1.00:0.00:60:42.3:0:0:44:107:31:NM_002479.5(MYOG) c.471+96T>A,NM_002479.5(MYOG) c.471+96T>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 203055090 . G . . NT END=203097442;NT GT ./. 1 203055101 rs4950877 A G 110 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.4796,G/0.5204;PC=0.294;Gene=MYOG/NM_002479.5/1;CC=c.-12T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:19:0:0:23,35:779,1104:0.00,110.11:0.00,26.48:0.00,83.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,44.0:0,0:0,0:86,88:65,55:20,18:-,NM_002479.5(MYOG) c.-12T>C:-,0.53:-,0.539136 1 203097561 . G . . NT END=203097912;NT GT ./. 1 203098311 . G . . NT END=203098328;NT GT ./. 1 203098386 . G . . NT END=203119759;NT GT ./. 1 203098594 rs34162960 G A 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8161,A/0.1839;Gene=ADORA1/NM_000674.2/1;CC=c.341+284G>A;VC=Intron;Gene=ADORA1/NM_001048230.1/0;CC=c.341+284G>A;VC=Intron;DM=ADORA1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,G:10:0:0:0:6,4:204,120:20.34,0.00:0.00,0.00:20.34,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:37.2,21.5:0,0:0,0:114,66:36,85:6,9:NM_000674.2(ADORA1) c.341+284G>A,-:0.21,-:NOT_FOUND,- 1 203113191 rs7526646 A G 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.08227,G/0.9177;PC=0.024;Gene=ADORA1/NM_000674.2/1;CC=c.341+14881A>G;VC=Intron;Gene=ADORA1/NM_001048230.1/0;CC=c.341+14881A>G;VC=Intron;DM=ADORA1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:6:0:0:7:233:26.64:15.81:10.83:1.00:1.00:1.00:60:35.4:0:0:44:97:18:NM_000674.2(ADORA1) c.341+14881A>G,NM_000674.2(ADORA1) c.341+14881A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 203113209 rs539124892 TACAC T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TACAC/0.3567,T/0.259;NP=45;PC=0.002;Gene=ADORA1/NM_000674.2/1;CC=c.341+14937_341+14940delCACA;VC=Intron;Gene=ADORA1/NM_001048230.1/0;CC=c.341+14937_341+14940delCACA;VC=Intron;DM=ADORA1/7tm_1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TACAC,T:5:5:0:5:2,3:64,124:0.00,8.93:0.00,3.02:0.00,5.90:0.00,0.73:0.00,0.96:0.00,0.51:60,60:35.0,43.0:0,1:0,0:118,57:32,93:3,21:-,NM_000674.2(ADORA1) c.341+14900_341+14903delACAC:-,NOT_FOUND:-,NOT_FOUND 1 203119491 rs17511192 C T 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8083,T/0.1917;Gene=ADORA1/NM_000674.2/1;CC=c.342-14898C>T;VC=Intron;Gene=ADORA1/NM_001048230.1/0;CC=c.342-14898C>T;VC=Intron;DM=ADORA1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:192:22.06:22.06:0.00:1.00:1.00:0.00:60:36.3:0:0:39:110:7:NM_000674.2(ADORA1) c.342-14898C>T,NM_000674.2(ADORA1) c.342-14898C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 1 203119907 . g . . NT END=203134183;NT GT ./. 1 203120143 rs1845466 G T 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5503,T/0.4497;Gene=ADORA1/NM_000674.2/1;CC=c.342-14246G>T;VC=Intron;Gene=ADORA1/NM_001048230.1/0;CC=c.342-14246G>T;VC=Intron;DM=ADORA1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:237:27.48:0.00:27.48:1.00:0.00:1.00:60:50.9:0:0:133:18:13:NM_000674.2(ADORA1) c.342-14246G>T,NM_000674.2(ADORA1) c.342-14246G>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 203135029 . A . . NT END=203137786;NT GT ./. 1 203137784 rs397705228 A ACT 212 nt VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.2758,ACT/0.7242;DB;DBA=NA;PAF=A/0.2758,ACT/0.7242;NP=1;NP=1672;Gene=MYBPH/NM_004997.2/1;CC=c.*1_*2dupAG;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A,ACT:61:47:59:0:2,59:44,1877:0.00,212.32:0.00,126.79:0.00,85.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:81.0,11.6:2,0:0,0:54,61:96,82:34,33:NM_004997.2(MYBPH) c.*1_*2dupAG,NM_004997.2(MYBPH) c.*1_*2dupAG:NOT_FOUND,NOT_FOUND:0.839903,0.839903 1 203137804 . C . . NT END=203138033;NT GT ./. 1 203138221 . C . . NT END=203138380;NT GT ./. 1 203138518 . C . . NT END=203139418;NT GT ./. 1 203139579 . C . . NT END=203140188;NT GT ./. 1 203140329 . C . . NT END=203140510;NT GT ./. 1 203140707 . C . . NT END=203141079;NT GT ./. 1 203141169 . C . . NT END=203143482;NT GT ./. 1 203143395 rs3737872 T C 109 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.7929,C/0.2071;PC=0.901;Gene=MYBPH/NM_004997.2/1;CC=c.508+163A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:31:0:0:31:944:109.11:109.11:0.00:1.00:1.00:0.00:60:48.4:0:0:49:102:34:NM_004997.2(MYBPH) c.508+163A>G,NM_004997.2(MYBPH) c.508+163A>G:0.23,0.23:NOT_FOUND,NOT_FOUND 1 203143526 . G . . NT END=203143557;NT GT ./. 1 203143726 . C . . NT END=203144454;NT GT ./. 1 203144590 . C . . NT END=203144678;NT GT ./. 1 203144884 . T . . NT END=203148572;NT GT ./. 1 203148633 rs4950927 A G 366 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=3479;Gene=CHI3L1/NM_001276.2/1;CC=c.1092T>C;ProtCh=p.C364=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:102:75:0:0:101,1:3181,12:365.58,0.16:205.55,0.00:160.03,0.16:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,143.0:0,0:0,0:51,12:97,136:27,0:NM_001276.2(CHI3L1) c.=,NM_001276.2(CHI3L1) c.=:1,1:0.998155,0.998155 1 203149006 . C . . NT END=203149597;NT GT ./. 1 203149781 . C . . NT END=203150289;NT GT ./. 1 203150414 . C . . NT END=203151858;NT GT ./. 1 203151981 . C . . NT END=203152768;NT GT ./. 1 203152177 rs946259 C T 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6334,T/0.3666;Gene=CHI3L1/NM_001276.2/1;CC=c.466-197G>A;VC=Intron;DM=CHI3L1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:0:0:0:8:220:25.75:0.00:25.75:1.00:0.00:1.00:60:46.4:0:0:119:30:6:NM_001276.2(CHI3L1) c.466-197G>A,NM_001276.2(CHI3L1) c.466-197G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 1 203152801 rs880633 T C 253 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.627,C/0.373;PC=0.970;Gene=CHI3L1/NM_001276.2/1;CC=c.433A>G;ProtCh=p.R145G;VC=Missense;DM=CHI3L1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:74:61:0:0:73,1:2207,12:253.38,0.00:156.24,0.00:97.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,70.0:0,0:0,0:67,9:82,142:36,0:NM_001276.2(CHI3L1) c.433A>G (p.Arg145Gly),NM_001276.2(CHI3L1) c.433A>G (p.Arg145Gly):0.37,0.37:0.414424,0.414424 1 203152920 . C . . NT END=203153703;NT GT ./. 1 203153555 rs12128727 C T 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6424,T/0.3576;Gene=CHI3L1/NM_001276.2/1;CC=c.314+149G>A;VC=Intron;DM=CHI3L1/Glyco_hydro_18;DM=CHI3L1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:323:37.07:37.07:0.00:1.00:1.00:0.00:60:52.8:0:0:46:104:36:NM_001276.2(CHI3L1) c.314+149G>A,NM_001276.2(CHI3L1) c.314+149G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 1 203153634 rs2071579 C G 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6286,A/.,G/0.3714;Gene=CHI3L1/NM_001276.2/1;CC=c.314+70G>C;VC=Intron;DM=CHI3L1/Glyco_hydro_18;DM=CHI3L1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:18:0:0:21:674:77.40:55.07:22.34:1.00:1.00:1.00:60:38.2:0:0:57:94:26:NM_001276.2(CHI3L1) c.314+70G>C,NM_001276.2(CHI3L1) c.314+70G>C:0.37,0.37:0.434516,0.434516 1 203153761 . C . . NT END=203154311;NT GT ./. 1 203154514 . C . . NT END=203155443;NT GT ./. 1 203154532 rs1538372 A G 154 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.3237,G/0.6763;PC=0.822;Gene=CHI3L1/NM_001276.2/1;CC=c.56-19T>C;VC=Intron;DM=CHI3L1/Glyco_hydro_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:G:41:18:0:0:41:1346:154.11:44.43:109.67:1.00:1.00:1.00:60:44.8:0:0:101:34:30:NM_001276.2(CHI3L1) c.56-19T>C,NM_001276.2(CHI3L1) c.56-19T>C:0.67,0.67:0.678533,0.678533 1 203155474 . C . . NT END=203155726;NT GT ./. 1 203155752 . T . . NT END=203186016;NT GT ./. 1 203155882 rs4950928 G C 131 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.2145,C/0.7855;Gene=CHI3L1/NM_001276.2/1;CC=c.-131C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:C:35:7:0:0:35:1141:130.75:15.91:114.84:1.00:1.00:1.00:60:38.5:0:0:92:59:34:NM_001276.2(CHI3L1) c.-131C>G,NM_001276.2(CHI3L1) c.-131C>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 203186093 rs1065761 G C 298 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=NA;Gene=CHIT1/NM_001256125.1/0;CC=c.1268C>G;ProtCh=p.A423G;VC=Missense;Gene=CHIT1/NM_001270509.1/0;CC=c.1190C>G;ProtCh=p.A397G;VC=Missense;Gene=CHIT1/NM_003465.2/1;CC=c.1325C>G;ProtCh=p.A442G;VC=Missense;Gene=CHIT1/NR_045784.1/0;VC=NonCoding;Gene=CHIT1/NR_045785.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:176:135:0:0:95,81:3051,2636:297.70,0.00:194.17,0.00:103.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,9.9:0,0:0,0:68,54:81,95:38,37:NM_003465.2(CHIT1) c.1325C>G (p.Ala442Gly),-:0.12,-:0.107643,- 1 203186262 . C . . NT END=203186429;NT GT ./. 1 203186501 . C . . NT END=203186866;NT GT ./. 1 203186994 . C . . NT END=203187062;NT GT ./. 1 203187220 . C . . NT END=203188343;NT GT ./. 1 203188458 . C . . NT END=203188791;NT GT ./. 1 203188692 rs2486958 A C 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.3249,C/0.6751;Gene=CHIT1/NM_001256125.1/0;CC=c.858+100T>G;VC=Intron;Gene=CHIT1/NM_001270509.1/0;CC=c.867+100T>G;VC=Intron;Gene=CHIT1/NM_003465.2/1;CC=c.915+100T>G;VC=Intron;Gene=CHIT1/NR_045784.1/0;VC=NonCoding;Gene=CHIT1/NR_045785.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:29:0:0:15,15:440,488:0.00,46.92:0.00,45.71:0.00,1.21:0.00,1.00:0.00,1.00:0.00,0.79:60,60:8.8,39.1:0,0:0,0:32,37:119,113:27,29:-,NM_003465.2(CHIT1) c.915+100T>G:-,0.65:-,NOT_FOUND 1 203188978 . C . . NT END=203191329;NT GT ./. 1 203191454 . C . . NT END=203192262;NT GT ./. 1 203192388 . C . . NT END=203192622;NT GT ./. 1 203192789 . C . . NT END=203194175;NT GT ./. 1 203192820 rs10920586 C T 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.6875,T/0.3125;Gene=CHIT1/NM_001256125.1/0;CC=c.258-32G>A;VC=Intron;Gene=CHIT1/NM_001270509.1/0;CC=c.315-32G>A;VC=Intron;Gene=CHIT1/NM_003465.2/1;CC=c.315-32G>A;VC=Intron;Gene=CHIT1/NR_045784.1/0;VC=NonCoding;Gene=CHIT1/NR_045785.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:32:0:0:36,27:1153,878:0.00,82.00:0.00,18.64:0.00,63.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,37.6:0,0:0,0:91,101:43,43:33,27:-,NM_003465.2(CHIT1) c.315-32G>A:-,0.33:-,0.282408 1 203194008 rs2486963 A G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3287,G/0.6713;Gene=CHIT1/NM_001256125.1/0;CC=c.257+789T>C;VC=Intron;Gene=CHIT1/NM_001270509.1/0;CC=c.314+168T>C;VC=Intron;Gene=CHIT1/NM_003465.2/1;CC=c.314+168T>C;VC=Intron;Gene=CHIT1/NR_045784.1/0;VC=NonCoding;Gene=CHIT1/NR_045785.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:6:6:0:0:2,4:64,127:0.00,12.95:0.00,12.95:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:15.5,71.0:0,0:0,0:36,33:114,117:26,19:-,NM_003465.2(CHIT1) c.314+168T>C:-,0.65:-,NOT_FOUND 1 203194186 rs2297950 C T 40 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=in-clinvar;PAF=C/0.7091,T/0.2909;PC=1.000;Gene=CHIT1/NM_001256125.1/0;CC=c.257+611G>A;VC=Intron;Gene=CHIT1/NM_001270509.1/0;CC=c.304G>A;ProtCh=p.G102S;VC=Missense;Gene=CHIT1/NM_003465.2/1;CC=c.304G>A;ProtCh=p.G102S;VC=Missense;Gene=CHIT1/NR_045784.1/0;VC=NonCoding;Gene=CHIT1/NR_045785.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:25:0:0:21,14:684,437:0.00,40.11:0.00,12.65:0.00,27.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.1,34.3:0,0:0,0:68,90:80,60:23,4:-,NM_003465.2(CHIT1) c.304G>A (p.Gly102Ser):-,0.3:-,0.285253 1 203194233 . C . . NT END=203194796;NT GT ./. 1 203194999 . C . . NT END=203197660;NT GT ./. 1 203197691 . C . . NT END=203198739;NT GT ./. 1 203198472 rs112477835 G A 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9477,A/0.05232;PC=0.002;Gene=CHIT1/NM_001256125.1/0;CC=c.25+268C>T;VC=Intron;Gene=CHIT1/NM_001270509.1/0;CC=c.25+268C>T;VC=Intron;Gene=CHIT1/NM_003465.2/1;CC=c.25+268C>T;VC=Intron;Gene=CHIT1/NR_045784.1/0;VC=NonCoding;Gene=CHIT1/NR_045785.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:4:0:0:3,1:101,36:10.55,0.00:10.55,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:63.3,33.0:0,0:0,0:69,94:62,56:44,0:NM_003465.2(CHIT1) c.25+268C>T,-:0.05,-:NOT_FOUND,- 1 203198765 . G . . NT END=203274734;NT GT ./. 1 203198889 rs201364457 GA G 55 nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=26;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GA,G:53:11:0:21:1,31,21:13,958,598:0.06,0.00,54.60:-0.03,0.00,7.77:0.09,0.00,46.83:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,70:13.0,12.8,30.5:0,1,0:0,0,0:150,103,107:1,48,44:0,30,27:-,NM_003465.2(CHIT1) c.-96-u30delT:-,0.04:-,NOT_FOUND 1 203269007 rs5780159 TAC T,TACACACACACAC 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TAC/0.3415,T/0.6585;NP=175;PC=0.060 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:28:TACACACACACAC,T:3:2:3:2:2,1:97,32:7.05,3.08:7.05,0.00:0.00,3.08:0.51,0.00:0.79,0.00:0.79,0.00:60,60:65.0,44.0:1,0:0,0:38,99:113,51:3,0:NR_034151.1(LOC730227) n.1588GT[15],NR_034151.1(LOC730227) n.1588GT[21]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 203269052 rs4997983 A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2945,G/0.7055;PC=0.006;Gene=LINC01136/NR_034150.1/0;VC=NonCoding;Gene=LINC01136/NR_034151.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:7:3:0:0:4,3:123,92:0.00,8.56:0.00,1.02:0.00,7.54:0.00,0.69:0.00,0.83:0.00,0.93:60,60:32.5,36.7:0,0:0,0:92,51:58,99:18,14:-,NR_034151.1(LOC730227) n.1575T>C:-,0.64:-,NOT_FOUND 1 203274519 rs57808006 A AGC 22 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.001597,AGC/0.9984;DB;DBA=NA;PAF=A/0.001597,AGC/0.9984;NP=4;PC=0.001;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,AGC:8:7:7:0:1,7:12,196:0.00,21.68:0.00,16.72:0.00,4.96:0.00,1.00:0.00,1.00:0.00,1.00:60,70:106.0,37.0:1,0:0,0:135,105:9,46:0,24:NM_006763.2(BTG2) c.-71-u145_-71-u144insGC,NM_006763.2(BTG2) c.-71-u145_-71-u144insGC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 203274536 rs6682221 C A 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1498,A/0.8502 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:11:0:0:13:394:45.56:35.97:9.59:1.00:1.00:1.00:70:74.8:0:0:51:100:39:NM_006763.2(BTG2) c.-71-u128C>A,NM_006763.2(BTG2) c.-71-u128C>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 203274877 . G . . NT END=203276231;NT GT ./. 1 203275976 rs56272333 TCACACACA T 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.002;Gene=BTG2/NM_006763.2/1;CC=c.143-236_143-229delACACACAC;VC=Intron;DM=BTG2/BTG;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:TCACACACA,T:5:5:0:4:1,4:9,135:0.00,14.40:0.00,14.40:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:57.0,6.8:0,0:0,0:85,31:65,120:0,9:-,NM_006763.2(BTG2) c.143-255_143-248delCACACACA:-,NOT_FOUND:-,NOT_FOUND 1 203276567 . G . . NT END=203311470;NT GT ./. 1 203276681 . AT A 7 rn VT=DEL;SST=Single;DP=26;NP=3;PC=0.069;Gene=BTG2/NM_006763.2/1;CC=c.*124delT;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:AT,T,A:26:0:0:3:22,1,3:620,10,95:0.00,-0.07,6.95:0.00,0.00,0.00:0.00,-0.07,6.95:0.00,0.00,0.45:0.00,0.00,0.00:0.00,0.00,0.45:60,60,60:20.5,128.0,0.0:0,0,0:0,0,0:95,122,137:56,28,12:35,0,0:-,NM_006763.2(BTG2) c.*116T[8]:-,NOT_FOUND:-,NOT_FOUND 1 203311623 . C . . NT END=203316419;NT GT ./. 1 203311736 rs1891180 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.5036,C/0.4964;Gene=FMOD/NM_002023.4/1;CC=c.980-114A>G;VC=Intron;Gene=FMOD/NR_103757.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:6:0:0:18,19:558,635:53.25,0.00:5.01,0.00:48.24,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:33.4,4.4:0,0:0,0:135,111:15,37:11,23:NM_002023.3(FMOD) c.980-114A>G,-:0.48,-:NOT_FOUND,- 1 203317162 rs7543148 C T 487 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.3816,T/0.6184;PC=0.997;Gene=FMOD/NM_002023.4/1;CC=c.237G>A;ProtCh=p.E79=;VC=Silent;Gene=FMOD/NR_103757.1/0;VC=NonCoding;DM=FMOD/LRRNT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:132:93:0:0:132:4238:486.57:250.09:236.49:1.00:1.00:1.00:60:38.4:1:0:75:72:29:NM_002023.3(FMOD) c.237G>A (p.(=)),NM_002023.3(FMOD) c.237G>A (p.(=)):0.65,0.65:0.668614,0.668614 1 203317399 . T . . NT END=203452312;NT GT ./. 1 203322368 rs6682996 A T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2015,T/0.7985;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:61.8:0:0:77:70:38:NM_002023.3(FMOD) c.-136-u2079T>A,NM_002023.3(FMOD) c.-136-u2079T>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 203322440 rs6658726 C A 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.2019,A/0.7981;PC=0.181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:451:51.78:46.26:5.52:1.00:1.00:1.00:60:99.6:0:0:28:114:14:NM_002023.3(FMOD) c.-136-u2151G>T,NM_002023.3(FMOD) c.-136-u2151G>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 203322451 rs59571468 T TA 52 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=255;PC=0.179;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T,TA:17:17:16:0:1,16:11,461:0.00,52.20:0.00,43.73:0.00,8.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:88.0,99.9:0,0:0,0:137,34:8,107:0,13:NM_002023.3(FMOD) c.-136-u2163_-136-u2162insT,NM_002023.3(FMOD) c.-136-u2163_-136-u2162insT:0.78,0.78:NOT_FOUND,NOT_FOUND 1 203322477 rs6671650 T C 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.1995,C/0.8005;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:22:0:0:24:755:86.94:58.58:28.36:1.00:1.00:1.00:60:86.3:0:0:33:108:23:NM_002023.3(FMOD) c.-136-u2188A>G,NM_002023.3(FMOD) c.-136-u2188A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 203322521 rs6658996 G C 136 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.03095,C/0.969;PC=0.792 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:30:0:0:37:1180:135.60:86.80:48.80:1.00:1.00:1.00:60:65.5:0:0:51:92:27:NM_002023.3(FMOD) c.-136-u2232C>G,NM_002023.3(FMOD) c.-136-u2232C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 203360091 . TTGTG T 13 rn VT=DEL;SST=Single;DP=7;PC=0.248;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:TTGTG,T:6:6:0:5:2,4:64,161:0.00,13.10:0.00,6.45:0.00,6.65:0.00,0.90:0.00,0.99:0.00,0.98:60,60:0.0,81.5:0,1:0,0:119,52:31,97:7,28:-,chr1 g.203360092_203360095delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 203452781 rs2233726 A G 227 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=155;DB;DBA=NA;PAF=A/0.9952,G/0.004792;NP=68;PC=0.997;Gene=PRELP/NM_002725.3/1;CC=c.469A>G;ProtCh=p.M157V;VC=Missense;Gene=PRELP/NM_201348.1/0;CC=c.469A>G;ProtCh=p.M157V;VC=Missense;DM=PRELP/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:155:102:0:0:76,1,78:2435,11,2364:0.00,-0.12,227.06:0.00,-0.02,108.16:0.00,-0.09,118.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.1,82.0,36.3:0,0,0:0,0,0:90,107,81:60,44,66:33,0,41:-,NM_002725.3(PRELP) c.469A>G (p.Met157Val):-,0.01:-,0.009842 1 203453286 . G . . NT END=203455833;NT GT ./. 1 203453502 rs2794444 C T 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3199,T/0.6801;PC=0.002;Gene=PRELP/NM_002725.3/1;CC=c.973+217C>T;VC=Intron;Gene=PRELP/NM_201348.1/0;CC=c.973+217C>T;VC=Intron;DM=PRELP/LRR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:12:0:0:0:4,8:109,203:0.00,20.67:0.00,0.00:0.00,20.67:0.00,1.00:0.00,0.00:0.00,1.00:60,60:41.0,33.4:0,0:0,0:103,118:47,32:38,21:-,NM_002725.3(PRELP) c.973+217C>T:-,0.66:-,NOT_FOUND 1 203455754 rs2233731 G A 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9028,A/0.09724;PC=0.001;Gene=PRELP/NM_002725.3/1;CC=c.974-80G>A;VC=Intron;Gene=PRELP/NM_201348.1/0;CC=c.974-80G>A;VC=Intron;DM=PRELP/LRR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:23:0:0:11,13:371,403:35.16,0.00:32.00,0.00:3.16,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:39.5,0.0:0,0:0,0:87,32:64,119:28,26:NM_002725.3(PRELP) c.974-80G>A,-:0.09,-:NOT_FOUND,- 1 203456010 . G . . NT END=203465133;NT GT ./. 1 203465365 . G . . NT END=203466104;NT GT ./. 1 203465570 rs2242198 C G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3664,G/0.6336;Gene=OPTC/NM_014359.3/1;CC=c.231+206C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,G:6:1:0:0:1,5:10,155:0.00,16.78:0.00,3.90:0.00,12.88:0.00,0.99:0.00,0.89:0.00,1.00:60,60:62.0,56.6:0,0:0,0:86,128:65,23:0,6:NM_014359.3(OPTC) c.231+206C>G,NM_014359.3(OPTC) c.231+206C>G:0.62,0.62:NOT_FOUND,NOT_FOUND 1 203466244 . G . . NT END=203467808;NT GT ./. 1 203467968 . G . . NT END=203468776;NT GT ./. 1 203468980 . G . . NT END=203472041;NT GT ./. 1 203469289 rs141997762 C G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003;Gene=OPTC/NM_014359.3/1;CC=c.732+310C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:4:0:0:0:2,2:67,71:0.00,6.85:0.00,0.00:0.00,6.85:0.00,0.51:0.00,0.00:0.00,0.51:60,60:61.5,190.5:0,0:0,0:66,110:39,17:65,20:-,NM_014359.3(OPTC) c.732+310C>G:-,NOT_FOUND:-,NOT_FOUND 1 203472138 . G . . NT END=203472677;NT GT ./. 1 203472849 . C . . NT END=203652333;NT GT ./. 1 203473044 rs754754 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3187,C/0.6813;Gene=OPTC/NM_014359.3/1;CC=c.*25+171T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,T:8:0:0:0:3,5:108,163:9.93,0.00:0.00,0.00:9.93,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:36.0,35.0:0,0:0,0:76,126:75,25:6,11:NM_014359.3(OPTC) c.*25+171T>C,-:0.66,-:NOT_FOUND,- 1 203626364 rs7544854 C G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.05451,G/0.9455;PC=1.000;Gene=ATP2B4/NM_001001396.2/1;CC=c.-464-25506C>G;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.-464-25506C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:0:5:172:19.58:8.15:11.43:1.00:1.00:1.00:60:39.4:0:0:113:38:16:NM_001001396.2(ATP2B4) c.-464-25506C>G,NM_001001396.2(ATP2B4) c.-464-25506C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 203626716 rs558095178 T C 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=6;PC=1.000;Gene=ATP2B4/NM_001001396.2/1;CC=c.-464-25154T>C;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.-464-25154T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:12:0:0:9,7:286,248:28.13,0.00:19.18,0.00:8.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.2,2.1:0,0:0,0:39,74:85,55:28,17:NM_001001396.2(ATP2B4) c.-464-25154T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 203652040 rs1541253 T C 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1502,C/0.8498;Gene=ATP2B4/NM_001001396.2/1;CC=c.-294T>C;VC=5UTR;Gene=ATP2B4/NM_001684.4/0;CC=c.-294T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:231:26.44:26.44:0.00:1.00:1.00:0.00:60:79.9:0:0:51:99:30:NM_001001396.2(ATP2B4) c.-294T>C,NM_001001396.2(ATP2B4) c.-294T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 203652140 rs1541254 C G 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1502,G/0.8498;Gene=ATP2B4/NM_001001396.2/1;CC=c.-194C>G;VC=5UTR;Gene=ATP2B4/NM_001684.4/0;CC=c.-194C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:507:58.28:58.28:0.00:1.00:1.00:0.00:60:83.7:0:0:43:107:27:NM_001001396.2(ATP2B4) c.-194C>G,NM_001001396.2(ATP2B4) c.-194C>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 203652141 rs1541255 G A 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1502,A/0.8498,T/.;Gene=ATP2B4/NM_001001396.2/1;CC=c.-193G>A;VC=5UTR;Gene=ATP2B4/NM_001684.4/0;CC=c.-193G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:16:0:0:16:503:57.88:57.88:0.00:1.00:1.00:0.00:60:83.7:0:0:44:106:27:NM_001001396.2(ATP2B4) c.-193G>A,NM_001001396.2(ATP2B4) c.-193G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 203652444 rs1419114 A G 396 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.15,G/0.85;Gene=ATP2B4/NM_001001396.2/1;CC=c.111A>G;ProtCh=p.S37=;VC=Silent;Gene=ATP2B4/NM_001684.4/0;CC=c.111A>G;ProtCh=p.S37=;VC=Silent;DM=ATP2B4/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:107:54:0:0:1,106:8,3473:0.00,396.23:0.00,134.59:0.00,261.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,40.2:0,0:0,0:53,77:98,72:0,34:NM_001001396.2(ATP2B4) c.111A>G (p.(=)),NM_001001396.2(ATP2B4) c.111A>G (p.(=)):0.87,0.87:0.828925,0.828925 1 203652527 . G . . NT END=203667284;NT GT ./. 1 203652683 rs4951369 C G 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1498,G/0.8502;PC=0.040;Gene=ATP2B4/NM_001001396.2/1;CC=c.193+157C>G;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.193+157C>G;VC=Intron;DM=ATP2B4/ATP_Ca_trans_C;DM=ATP2B4/Cation_ATPase_N;DM=ATP2B4/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:G,T:10:0:0:0:9,1:302,7:34.08,0.32:0.00,0.00:34.08,0.32:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.9,127.0:0,0:0,0:92,99:59,51:53,0:NM_001001396.2(ATP2B4) c.193+157C>G,NM_001001396.2(ATP2B4) c.193+157C>G:0.87,0.87:NOT_FOUND,NOT_FOUND 1 203652698 rs4951070 T C 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1498,C/0.8502;Gene=ATP2B4/NM_001001396.2/1;CC=c.193+172T>C;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.193+172T>C;VC=Intron;DM=ATP2B4/ATP_Ca_trans_C;DM=ATP2B4/Cation_ATPase_N;DM=ATP2B4/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:280:32.29:0.00:32.29:1.00:0.00:1.00:60:77.4:0:0:107:44:36:NM_001001396.2(ATP2B4) c.193+172T>C,NM_001001396.2(ATP2B4) c.193+172T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 203667141 rs12030160 T G 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3644,G/0.6356;PC=0.001;Gene=ATP2B4/NM_001001396.2/1;CC=c.194-144T>G;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.194-144T>G;VC=Intron;DM=ATP2B4/ATP_Ca_trans_C;DM=ATP2B4/Cation_ATPase_N;DM=ATP2B4/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:17:0:0:17:560:64.11:64.11:0.00:1.00:1.00:0.00:60:32.9:0:0:38:113:25:NM_001001396.2(ATP2B4) c.194-144T>G,NM_001001396.2(ATP2B4) c.194-144T>G:0.66,0.66:NOT_FOUND,NOT_FOUND 1 203667409 rs2228445 T C 304 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.1402,C/0.8598;PC=0.001;Gene=ATP2B4/NM_001001396.2/1;CC=c.318T>C;ProtCh=p.L106=;VC=Silent;Gene=ATP2B4/NM_001684.4/0;CC=c.318T>C;ProtCh=p.L106=;VC=Silent;DM=ATP2B4/Cation_ATPase_N;DM=ATP2B4/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:79:50:0:0:78,1:2673,11:304.00,0.16:142.23,0.16:161.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,122.0:0,0:0,0:77,115:74,22:37,0:NM_001001396.2(ATP2B4) c.318T>C (p.(=)),NM_001001396.2(ATP2B4) c.318T>C (p.(=)):0.88,0.88:0.844841,0.844841 1 203667483 . G . . NT END=203668587;NT GT ./. 1 203667536 rs6676272 A G 129 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6088,G/0.3912;Gene=ATP2B4/NM_001001396.2/1;CC=c.391+54A>G;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.391+54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:7:0:0:33:1135:129.24:17.15:112.09:1.00:1.00:1.00:60:47.1:0:0:98:52:26:NM_001001396.2(ATP2B4) c.391+54A>G,NM_001001396.2(ATP2B4) c.391+54A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 1 203668846 . G . . NT END=203669333;NT GT ./. 1 203669099 rs1891813 G A 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.639,A/0.361;PC=0.003;Gene=ATP2B4/NM_001001396.2/1;CC=c.650-235G>A;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.650-235G>A;VC=Intron;DM=ATP2B4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:3:0:0:10,7:296,221:29.34,0.00:2.78,0.00:26.56,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:65.1,19.6:0,0:0,0:101,102:49,49:23,38:NM_001001396.2(ATP2B4) c.650-235G>A,-:0.31,-:NOT_FOUND,- 1 203669100 rs34770908 A T 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.639,T/0.361;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ATP2B4/NM_001001396.2/1;CC=c.650-234A>T;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.650-234A>T;VC=Intron;DM=ATP2B4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,T:17:3:0:0:7,10:182,302:0.00,29.96:0.00,2.70:0.00,27.27:0.00,1.00:0.00,0.94:0.00,1.00:60,60:19.6,65.1:0,0:0,0:103,102:48,48:38,23:-,NM_001001396.2(ATP2B4) c.650-234A>T:-,0.31:-,NOT_FOUND 1 203669460 . G . . NT END=203669925;NT GT ./. 1 203669686 rs11240759 G A 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6344,A/0.3656;Gene=ATP2B4/NM_001001396.2/1;CC=c.775+227G>A;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.775+227G>A;VC=Intron;DM=ATP2B4/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:8:0:0:8,7:250,199:24.33,0.00:19.46,0.00:4.86,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:31.2,18.1:0,0:0,0:23,104:128,47:14,34:NM_001001396.2(ATP2B4) c.775+227G>A,-:0.34,-:NOT_FOUND,- 1 203670052 . G . . NT END=203671171;NT GT ./. 1 203670128 rs3820197 A T 72 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6348,T/0.3652;PC=0.977;Gene=ATP2B4/NM_001001396.2/1;CC=c.901+77A>T;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.901+77A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:14:0:0:21,23:683,738:0.00,71.52:0.00,6.91:0.00,64.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,71.7:0,0:0,0:107,84:39,67:27,31:-,NM_001001396.2(ATP2B4) c.901+77A>T:-,0.34:-,NOT_FOUND 1 203670179 rs3766752 A G 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6308,G/0.3692;Gene=ATP2B4/NM_001001396.2/1;CC=c.901+128A>G;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.901+128A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:1:0:0:13,15:366,489:0.00,47.70:0.00,-0.17:0.00,47.87:0.00,1.00:0.00,0.69:0.00,1.00:60,60:6.1,89.7:0,0:0,0:111,104:40,46:34,24:-,NM_001001396.2(ATP2B4) c.901+128A>G:-,0.34:-,NOT_FOUND 1 203671208 . G . . NT END=203672779;NT GT ./. 1 203672942 . G . . NT END=203676136;NT GT ./. 1 203676352 . G . . NT END=203676989;NT GT ./. 1 203677233 . G . . NT END=203678428;NT GT ./. 1 203678292 . G GA 12 rn VT=INS;SST=Single;DP=20;NP=1;PC=0.001;Gene=ATP2B4/NM_001001396.2/1;CC=c.1558-126_1558-125insA;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.1558-126_1558-125insA;VC=Intron;DM=ATP2B4/HAD;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:G,GA:20:20:5:0:15,5:502,146:0.00,12.10:0.00,12.16:0.00,-0.06:0.00,0.85:0.00,0.85:0.00,0.50:60,60:15.0,39.8:0,0:0,0:45,41:106,109:15,35:-,NM_001001396.2(ATP2B4) c.1558-137_1558-136insA:-,NOT_FOUND:-,NOT_FOUND 1 203678671 . G . . NT END=203680004;NT GT ./. 1 203679934 rs2032018 A G 51 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.345,G/0.655;Gene=ATP2B4/NM_001001396.2/1;CC=c.1800-71A>G;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.1800-71A>G;VC=Intron;DM=ATP2B4/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:25:0:0:13,16:374,522:0.00,51.18:0.00,43.42:0.00,7.76:0.00,1.00:0.00,1.00:0.00,0.98:60,60:5.6,47.0:0,0:0,0:32,48:118,103:28,29:-,NM_001001396.2(ATP2B4) c.1800-71A>G:-,0.63:-,NOT_FOUND 1 203680237 . G . . NT END=203681087;NT GT ./. 1 203680492 rs6655965 A G 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.353,G/0.647;Gene=ATP2B4/NM_001001396.2/1;CC=c.2031+256A>G;VC=Intron;Gene=ATP2B4/NM_001684.4/0;CC=c.2031+256A>G;VC=Intron;DM=ATP2B4/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,G:6:0:0:0:3,3:76,82:0.00,7.83:0.00,0.00:0.00,7.83:0.00,0.73:0.00,0.00:0.00,0.73:60,60:38.3,43.7:0,0:0,0:74,80:75,70:60,3:-,NM_001001396.2(ATP2B4) c.2031+256A>G:-,0.62:-,NOT_FOUND 1 203681268 . G . . NT END=203682292;NT GT ./. 1 203682381 . G . . NT END=203683298;NT GT ./. 1 203683406 . G . . NT END=203689676;NT GT ./. 1 203689869 . G . . NT END=203690324;NT GT ./. 1 203690539 . G . . NT END=203691605;NT GT ./. 1 203690782 . CT C,CTT 6 idl,nt VT=INS;SST=Single;DP=4;PC=0.019;DM=ATP2B4/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:28:CTT,C:3:0:3:1:2,1:91,32:6.45,3.08:0.00,0.00:6.45,3.08:0.51,0.00:0.00,0.00:0.51,0.00:60,60:78.5,0.0:1,0:0,0:113,125:37,26:8,0:NM_001001396.2(ATP2B4) c.2812+245delT,NM_001001396.2(ATP2B4) c.2812+245dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 203691818 . G . . NT END=203693008;NT GT ./. 1 203693117 . G . . NT END=203696522;NT GT ./. 1 203696700 . G . . NT END=203702350;NT GT ./. 1 203702529 . G . . NT END=203708673;NT GT ./. 1 203708983 . A . . NT END=203734470;NT GT ./. 1 203734783 . G . . NT END=203739955;NT GT ./. 1 203740066 . G . . NT END=203740494;NT GT ./. 1 203740606 . G . . NT END=203741195;NT GT ./. 1 203740615 rs3737976 T C 68 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.6298,C/0.3702;PC=0.001;Gene=LAX1/NM_001136190.1/0;CC=c.262+10T>C;VC=Intron;Gene=LAX1/NM_017773.3/1;CC=c.310+10T>C;VC=Intron;Gene=LAX1/NM_001282878.1/0;CC=c.82+10T>C;VC=Intron;DM=LAX1/LAX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:10:0:0:19:588:67.82:21.37:46.45:1.00:1.00:1.00:60:36.7:0:0:112:39:29:NM_017773.3(LAX1) c.310+10T>C,NM_017773.3(LAX1) c.310+10T>C:0.4,0.4:0.47332,0.47332 1 203741276 . G . . NT END=203743002;NT GT ./. 1 203741368 rs3737973 C A 63 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.628,A/0.372;Gene=LAX1/NM_001136190.1/0;CC=c.342+93C>A;VC=Intron;Gene=LAX1/NM_017773.3/1;CC=c.390+93C>A;VC=Intron;Gene=LAX1/NM_001282878.1/0;CC=c.162+93C>A;VC=Intron;DM=LAX1/LAX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:1:0:0:18:544:62.88:1.94:60.94:1.00:1.00:1.00:60:33.8:0:0:99:51:32:NM_017773.3(LAX1) c.390+93C>A,NM_017773.3(LAX1) c.390+93C>A:0.4,0.4:NOT_FOUND,NOT_FOUND 1 203743810 . A . . NT END=203766650;NT GT ./. 1 203768226 . T . . NT END=203768996;NT GT ./. 1 203768328 rs7552670 T C 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8163,C/0.1837;PC=0.996;Gene=ZC3H11A/NM_014827.4/1;CC=c.-259-2375T>C;VC=Intron;Gene=ZBED6/NM_001174108.1/1;CC=c.1678T>C;ProtCh=p.F560L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:15:0:0:0:9,6:306,192:30.51,0.00:0.00,0.00:30.51,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.3,0.0:0,0:0,0:110,115:41,35:31,32:NM_001174108.1(ZBED6) c.1678T>C (p.Phe560Leu),-:0.17,-:NOT_FOUND,- 1 203769271 . A . . NT END=203769557;NT GT ./. 1 203769532 rs7540041 G A 63 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8163,A/0.1837;PC=1.000;Gene=ZC3H11A/NM_014827.4/1;CC=c.-259-1171G>A;VC=Intron;Gene=ZBED6/NM_001174108.1/1;CC=c.2882G>A;ProtCh=p.S961N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:28:0:0:20,13:631,435:63.03,0.00:42.67,0.00:20.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,5.8:0,0:0,0:42,22:108,124:20,11:NM_001174108.1(ZBED6) c.2882G>A (p.Ser961Asn),-:0.17,-:NOT_FOUND,- 1 203769591 . T . . NT END=203786198;NT GT ./. 1 203769891 rs10494844 T G 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8163,G/0.1837;PC=0.475;Gene=ZC3H11A/NM_014827.4/1;CC=c.-259-812T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:91:10.97:0.00:10.97:1.00:0.00:1.00:60:49.0:0:0:61:88:22:NM_014827.4(ZC3H11A) c.-259-812T>G,NM_014827.4(ZC3H11A) c.-259-812T>G:0.17,0.17:NOT_FOUND,NOT_FOUND 1 203786253 . G . . NT END=203787697;NT GT ./. 1 203787490 rs3753590 C G 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.8161,G/0.1839;Gene=ZC3H11A/NM_014827.4/1;CC=c.55-208C>G;VC=Intron;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:19:0:0:10,9:299,289:0.00,27.47:0.00,27.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.2,54.7:0,0:0,0:66,69:84,82:19,17:-,NM_014827.4(ZC3H11A) c.55-208C>G:-,0.17:-,NOT_FOUND 1 203787700 rs4951260 T C 405 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.02117,C/0.9788;PC=0.898;Gene=ZC3H11A/NM_014827.4/1;CC=c.57T>C;ProtCh=p.G19=;VC=Silent;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:110:81:0:0:110:3534:405.46:265.28:140.18:1.00:1.00:1.00:60:37.4:0:0:58:91:30:NM_014827.4(ZC3H11A) c.=,NM_014827.4(ZC3H11A) c.=:0.98,0.98:0.975704,0.975704 1 203787818 . G . . NT END=203797426;NT GT ./. 1 203797163 rs146044176 CTAAAT C 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTAAAT/0.856,C/0.144;NP=17;PC=0.001;Gene=ZC3H11A/NM_014827.4/1;CC=c.175-260_175-256delATTAA;VC=Intron;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CTAAAT,C:4:4:0:2:2,2:69,69:0.00,6.65:0.00,6.65:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,6.0:0,0:0,0:58,50:91,100:48,21:-,NM_014827.4(ZC3H11A) c.175-263_175-259delTAAAT:-,0.14:-,NOT_FOUND 1 203797551 . G . . NT END=203798578;NT GT ./. 1 203798347 rs6665955 G T 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.02117,T/0.9788;Gene=ZC3H11A/NM_014827.4/1;CC=c.299-232G>T;VC=Intron;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3;DM=ZC3H11A/zf-CCCH_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:T:7:7:0:0:7:200:23.26:23.26:0.00:1.00:1.00:0.00:60:43.3:0:0:68:83:26:NM_014827.4(ZC3H11A) c.299-232G>T,NM_014827.4(ZC3H11A) c.299-232G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 203798783 . G . . NT END=203798907;NT GT ./. 1 203799025 . G . . NT END=203799250;NT GT ./. 1 203799332 . G . . NT END=203800788;NT GT ./. 1 203800735 rs2275325 G C 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.7264,C/0.2736;Gene=ZC3H11A/NM_014827.4/1;CC=c.701-54G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:26:0:0:14,14:483,452:46.55,0.00:40.35,0.00:6.20,0.00:1.00,0.00:1.00,0.00:0.73,0.00:60,60:38.6,3.4:0,0:0,0:34,21:116,130:19,13:NM_014827.4(ZC3H11A) c.701-54G>C,-:0.26,-:NOT_FOUND,- 1 203800900 . G . . NT END=203802918;NT GT ./. 1 203802982 . G . . NT END=203803141;NT GT ./. 1 203803016 rs6694647 A G 194 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.02117,G/0.9788;Gene=ZC3H11A/NM_014827.4/1;CC=c.874+35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:51:26:0:0:51:1702:194.45:65.44:129.00:1.00:1.00:1.00:60:36.5:0:0:101:47:29:NM_014827.4(ZC3H11A) c.874+35A>G,NM_014827.4(ZC3H11A) c.874+35A>G:0.98,0.98:0.975857,0.975857 1 203803231 . G . . NT END=203807093;NT GT ./. 1 203807193 . G . . NT END=203809433;NT GT ./. 1 203809300 rs75699030 C CA 22 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7951,CA/0.2049;DB;DBA=NA;PAF=C/0.7951,CA/0.2049;NP=711;PC=0.078;Gene=ZC3H11A/NM_014827.4/1;CC=c.974-132_974-131insA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,C,CA:14:13:7:0:1,6,7:29,183,222:2.04,0.00,21.63:2.04,0.00,18.15:0.00,0.00,3.48:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.67:60,60,60:29.0,26.5,19.9:0,0,0:0,0,0:0,29,94:151,105,49:0,22,12:-,NM_014827.4(ZC3H11A) c.974-134_974-133insA:-,0.19:-,NOT_FOUND 1 203809503 . G . . NT END=203816311;NT GT ./. 1 203816816 . G . . NT END=203817458;NT GT ./. 1 203817536 . G . . NT END=203818838;NT GT ./. 1 203819155 . G . . NT END=203819642;NT GT ./. 1 203819440 rs10494847 A C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8161,C/0.1839;PC=0.001;Gene=ZC3H11A/NM_014827.4/1;CC=c.1940-203A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:18:0:0:9,10:279,331:0.00,32.16:0.00,28.97:0.00,3.20:0.00,1.00:0.00,1.00:0.00,0.68:60,60:7.7,37.6:0,0:0,0:38,27:112,123:28,24:-,NM_014827.4(ZC3H11A) c.1940-203A>C:-,0.17:-,NOT_FOUND 1 203819810 . G . . NT END=203820184;NT GT ./. 1 203820253 . G . . NT END=203821268;NT GT ./. 1 203821096 rs57160781 CA C 15 idl,rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=ZC3H11A/NM_014827.4/1;CC=c.2175-146delA;VC=Intron;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:CA,C:12:14:0:7:7,5:240,234:0.00,15.41:0.00,15.41:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:26.3,58.2:0,2:0,0:115,30:28,121:11,16:-,NM_014827.4(ZC3H11A) c.2175-172delA:-,NOT_FOUND:-,NOT_FOUND 1 203821200 rs7512877 G A 228 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.02117,A/0.9788;Gene=ZC3H11A/NM_014827.4/1;CC=c.2175-69G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:A:63:57:0:0:63:1985:228.41:180.21:48.20:1.00:1.00:1.00:60:50.5:0:0:41:110:25:NM_014827.4(ZC3H11A) c.2175-69G>A,NM_014827.4(ZC3H11A) c.2175-69G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 203821528 . A . . NT END=203830787;NT GT ./. 1 203830842 . G . . NT END=203831323;NT GT ./. 1 203831351 . G . . NT END=203832790;NT GT ./. 1 203832660 rs6679953 G T 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.3051,T/0.6949;PC=0.007;Gene=SNRPE/NM_001304464.1/0;CC=c.58-131G>T;VC=Intron;Gene=SNRPE/NM_003094.3/1;CC=c.82-131G>T;VC=Intron;Gene=SNRPE/NR_130746.1/0;VC=NonCoding;DM=SNRPE/LSM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G,T:19:18:0:0:2,17:23,488:0.00,54.21:0.00,50.38:0.00,3.83:0.00,1.00:0.00,1.00:0.00,0.93:60,60:15.5,35.9:0,0:0,0:29,45:121,106:0,24:NM_003094.2(SNRPE) c.82-131G>T,NM_003094.2(SNRPE) c.82-131G>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 203832854 . G . . NT END=203834168;NT GT ./. 1 203834248 . G . . NT END=203839004;NT GT ./. 1 203839061 . A . . NT END=204082043;NT GT ./. 1 203923761 rs2810645 A G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3852,G/0.6148;PC=0.985 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:114:13.30:9.47:3.83:1.00:1.00:1.00:60:63.8:0:0:64:67:25:chr1 g.203923760A>G (intergenic),chr1 g.203923760A>G (intergenic):0.59,0.59:NOT_FOUND,NOT_FOUND 1 203969307 rs55978814 GACAC G 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=53;PC=0.062;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GACAC,G:3:4:0:3:1,2:31,101:0.00,6.85:0.00,5.11:0.00,1.74:0.00,0.51:0.00,0.51:0.00,0.67:60,60:97.0,5.0:0,1:0,0:9,54:142,97:0,0:-,chr1 g.203969308_203969311delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 204074666 rs4951042 T C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5136,C/0.4864;PC=0.026;Gene=SOX13/NM_005686.2/1;CC=c.-1-7377T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:3:0:0:4:84:10.16:7.32:2.84:1.00:1.00:1.00:60:21.0:0:0:73:77:30:NM_005686.2(SOX13) c.-1-7377T>C,NM_005686.2(SOX13) c.-1-7377T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 1 204081655 rs940653 A ACACACACACT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=206;NP=4;NP=8;Gene=SOX13/NM_005686.2/1;CC=c.-1-387_-1-386insACACACACTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,ACACACACACT:3:4:3:0:1,2:29,97:0.00,6.85:0.00,3.53:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.79:60,70:7.0,3.5:0,1:0,0:142,65:2,86:0,37:-,NM_005686.2(SOX13) c.-1-388_-1-387insCACACACACT:-,NOT_FOUND:-,NOT_FOUND 1 204082002 rs2293336 C T 186 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.6993,T/0.3007;Gene=SOX13/NM_005686.2/1;CC=c.-1-41C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:T:50:45:0:0:50:1624:186.21:136.60:49.61:1.00:1.00:1.00:60:45.6:0:0:36:112:24:NM_005686.2(SOX13) c.-1-41C>T,NM_005686.2(SOX13) c.-1-41C>T:0.29,0.29:0.299951,0.299951 1 204082263 . G . . NT END=204083448;NT GT ./. 1 204082323 rs760312 C T 144 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.5986,T/0.4014;Gene=SOX13/NM_005686.2/1;CC=c.219+61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G,T:40:5:0:0:1,39:8,1260:0.14,144.13:0.00,11.60:0.14,132.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,42.7:0,0:0,0:30,102:121,47:0,30:NM_005686.2(SOX13) c.219+61C>T,NM_005686.2(SOX13) c.219+61C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 1 204083217 rs79448229 C T 8 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9868,T/0.01318;Gene=SOX13/NM_005686.2/1;CC=c.220-232C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:9:9:0:0:6,3:191,95:0.00,8.44:0.00,8.44:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:12.5,63.0:0,0:0,0:20,9:131,142:14,3:-,NM_005686.2(SOX13) c.220-232C>T:-,0.02:-,NOT_FOUND 1 204083561 . G . . NT END=204083646;NT GT ./. 1 204083734 . G . . NT END=204085192;NT GT ./. 1 204085478 . g . . NT END=204085634;NT GT ./. 1 204085808 . G . . NT END=204086249;NT GT ./. 1 204086319 . G . . NT END=204086720;NT GT ./. 1 204086836 . G . . NT END=204091027;NT GT ./. 1 204091114 . G . . NT END=204091364;NT GT ./. 1 204091528 . G . . NT END=204091981;NT GT ./. 1 204092092 . G . . NT END=204092239;NT GT ./. 1 204092337 . G . . NT END=204092788;NT GT ./. 1 204092502 rs61825748 G T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9746,T/0.02536;Gene=SOX13/NM_005686.2/1;CC=c.1231+166G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:13:2:0:0:6,7:193,226:0.00,22.04:0.00,3.27:0.00,18.77:0.00,0.99:0.00,0.82:0.00,1.00:60,60:13.8,37.4:0,0:0,0:103,98:47,52:24,20:-,NM_005686.2(SOX13) c.1231+166G>T:-,0.03:-,NOT_FOUND 1 204092933 . G . . NT END=204093768;NT GT ./. 1 204093986 . G . . NT END=204094985;NT GT ./. 1 204094781 rs16852929 T C 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9385,C/0.0615;Gene=SOX13/NM_005686.2/1;CC=c.1593-205T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:13:13:0:0:6,7:187,231:17.67,0.00:17.67,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:48.2,23.6:0,0:0,0:32,49:118,100:29,21:NM_005686.2(SOX13) c.1593-205T>C,-:0.05,-:NOT_FOUND,- 1 204094902 rs2692010 T C 205 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.07987,C/0.9201;Gene=SOX13/NM_005686.2/1;CC=c.1593-84T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:54:0:1:55:1783:204.50:173.00:31.50:1.00:1.00:1.00:60:41.8:0:0:40:109:25:NM_005686.2(SOX13) c.1593-84T>C,NM_005686.2(SOX13) c.1593-84T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 1 204095263 . T . . NT END=204101311;NT GT ./. 1 204095280 rs41306221 T C 161 nt VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.9241,A/.,C/0.07588;Gene=SOX13/NM_005686.2/1;CC=c.*18T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:99:49:0:0:53,46:1656,1498:161.18,0.00:56.43,0.00:104.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,14.6:0,0:0,0:93,101:58,46:22,26:NM_005686.2(SOX13) c.*18T>C,-:0.07,-:0.089277,- 1 204095478 rs16852933 C T 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9241,T/0.07588;Gene=SOX13/NM_005686.2/1;CC=c.*216C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:4:0:0:0:2,2:58,68:0.00,6.55:0.00,0.00:0.00,6.55:0.00,0.51:0.00,0.00:0.00,0.51:60,60:17.5,40.0:0,0:0,0:103,74:47,75:46,34:-,NM_005686.2(SOX13) c.*216C>T:-,0.07:-,NOT_FOUND 1 204101385 . C . . NT END=204103642;NT GT ./. 1 204101421 rs12730254 G A 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.9675,A/0.03255;PC=0.008;Gene=ETNK2/NM_001297760.1/1;CC=c.*10-37C>T;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.555-37C>T;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.966-37C>T;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.1089-37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:23:0:0:16,26:525,909:48.01,0.00:13.48,0.00:34.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,5.5:0,0:0,0:114,102:37,46:20,22:NM_018208.2(ETNK2) c.1089-37C>T,-:0.04,-:0.045641,- 1 204101681 rs1917540 C T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5208,T/0.4792;Gene=ETNK2/NM_001297760.1/1;CC=c.*10-297G>A;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.555-297G>A;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.966-297G>A;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.1089-297G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:199:22.76:0.00:22.76:1.00:0.00:1.00:60:39.2:0:0:77:71:21:NM_018208.2(ETNK2) c.1089-297G>A,NM_018208.2(ETNK2) c.1089-297G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 204103440 rs11240675 A G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.06869,G/0.9313;Gene=ETNK2/NM_001297760.1/1;CC=c.*9+203T>C;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.554+203T>C;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.965+203T>C;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.1088+203T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:326:37.36:37.36:0.00:1.00:1.00:0.00:60:39.2:0:0:70:80:40:NM_018208.2(ETNK2) c.1088+203T>C,NM_018208.2(ETNK2) c.1088+203T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 204103618 rs2293335 G A 94 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.5064,A/0.4936;Gene=ETNK2/NM_001297760.1/1;CC=c.*9+25C>T;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.554+25C>T;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.965+25C>T;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.1088+25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:50:0:0:30,26:965,779:93.99,0.00:62.16,0.00:31.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,1.7:0,0:0,0:65,48:82,102:32,34:NM_018208.2(ETNK2) c.1088+25C>T,-:0.52,-:0.543441,- 1 204103823 . C . . NT END=204106231;NT GT ./. 1 204106378 . C . . NT END=204109162;NT GT ./. 1 204108961 rs11799485 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7147,G/0.2853;PC=0.008;Gene=ETNK2/NM_001297760.1/1;CC=c.868+202T>C;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.334+202T>C;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.745+202T>C;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.868+202T>C;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,G:7:7:0:0:4,3:128,106:0.00,9.96:0.00,9.96:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:6.2,35.3:0,0:0,0:42,106:107,45:21,22:-,NM_018208.2(ETNK2) c.868+202T>C:-,0.27:-,NOT_FOUND 1 204109247 . C . . NT END=204110442;NT GT ./. 1 204109473 rs11240680 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5166,A/0.4834;Gene=ETNK2/NM_001297760.1/1;CC=c.785-227C>T;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.251-227C>T;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.662-227C>T;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.785-227C>T;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:84:10.20:0.00:10.20:1.00:0.00:1.00:60:40.5:0:0:76:73:11:NM_018208.2(ETNK2) c.785-227C>T,NM_018208.2(ETNK2) c.785-227C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 204110334 rs10793755 A G 100 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.05132,G/0.9487;Gene=ETNK2/NM_001297760.1/1;CC=c.784+109T>C;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.250+109T>C;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.661+109T>C;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.784+109T>C;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G,T:32:29:0:0:31,1:855,11:99.58,0.31:81.85,0.31:17.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:30.8,23.0:0,0:0,0:35,90:115,60:25,0:NM_018208.2(ETNK2) c.784+109T>C,NM_018208.2(ETNK2) c.784+109T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 204110586 . C . . NT END=204115769;NT GT ./. 1 204115477 rs940652 C T 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1036,T/0.8964;Gene=ETNK2/NM_001297760.1/1;CC=c.641+293G>A;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.107+293G>A;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.518+3354G>A;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.641+293G>A;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:147:17.48:17.48:0.00:1.00:1.00:0.00:60:51.5:0:0:41:100:25:NM_018208.2(ETNK2) c.641+293G>A,NM_018208.2(ETNK2) c.641+293G>A:0.89,0.89:NOT_FOUND,NOT_FOUND 1 204115586 rs940651 G C 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.1154,C/0.8846;Gene=ETNK2/NM_001297760.1/1;CC=c.641+184C>G;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.107+184C>G;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.518+3245C>G;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.641+184C>G;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:479:54.57:54.57:0.00:1.00:1.00:0.00:60:49.2:0:0:66:83:31:NM_018208.2(ETNK2) c.641+184C>G,NM_018208.2(ETNK2) c.641+184C>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 204115713 rs78859872 A C 144 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.9886,C/0.01138;Gene=ETNK2/NM_001297760.1/1;CC=c.641+57T>G;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.107+57T>G;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.518+3118T>G;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.641+57T>G;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:31:0:0:38:1259:144.02:100.25:43.77:1.00:1.00:1.00:60:34.4:0:0:36:113:27:NM_018208.2(ETNK2) c.641+57T>G,NM_018208.2(ETNK2) c.641+57T>G:0.01,0.01:NOT_FOUND,NOT_FOUND 1 204115893 . C . . NT END=204118830;NT GT ./. 1 204115934 rs2293337 C T 162 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7997,T/0.2003;Gene=ETNK2/NM_001297760.1/1;CC=c.519-42G>A;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.-16-42G>A;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.518+2897G>A;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.519-42G>A;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:T:46:26:0:0:46:1399:161.61:56.39:105.22:1.00:1.00:1.00:60:34.9:0:0:98:38:25:NM_018208.2(ETNK2) c.519-42G>A,NM_018208.2(ETNK2) c.519-42G>A:0.22,0.22:0.279299,0.279299 1 204117697 . GAC G 15 idl,rn VT=DEL;SST=Single;DP=6;NP=5;Gene=ETNK2/NM_001297760.1/1;CC=c.518+1132_518+1133delGT;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.-16-1807_-16-1806delGT;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.518+1132_518+1133delGT;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.518+1132_518+1133delGT;VC=Intron;DM=ETNK2/Choline_kinase;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:5:0:7:4:173:14.70:3.40:11.30:0.93:0.99:0.93:70:2.2:2:0:76:68:13:NM_018208.2(ETNK2) c.518+1132_518+1133delGT,NM_018208.2(ETNK2) c.518+1132_518+1133delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 204117810 rs4951310 A G 19 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.08446,G/0.9155;Gene=ETNK2/NM_001297760.1/1;CC=c.518+1021T>C;VC=Intron;Gene=ETNK2/NM_001297761.1/0;CC=c.-16-1918T>C;VC=Intron;Gene=ETNK2/NM_001297762.1/0;CC=c.518+1021T>C;VC=Intron;Gene=ETNK2/NM_018208.3/0;CC=c.518+1021T>C;VC=Intron;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:171:19.48:1.99:17.50:1.00:1.00:1.00:60:41.0:0:0:126:25:17:NM_018208.2(ETNK2) c.518+1021T>C,NM_018208.2(ETNK2) c.518+1021T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 204119091 . C . . NT END=204120722;NT GT ./. 1 204120952 rs3737655 G T 285 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=212;DB;DBA=NA;PAF=G/0.8648,T/0.1352;PC=0.982;Gene=ETNK2/NM_001297760.1/1;CC=c.29C>A;ProtCh=p.P10Q;VC=Missense;Gene=ETNK2/NM_001297761.1/0;CC=c.-246C>A;VC=5UTR;Gene=ETNK2/NM_001297762.1/0;CC=c.29C>A;ProtCh=p.P10Q;VC=Missense;Gene=ETNK2/NM_018208.3/0;CC=c.29C>A;ProtCh=p.P10Q;VC=Missense;DM=ETNK2/Choline_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:212:124:0:0:1,117,94:8,3589,3030:-0.22,0.00,284.83:-0.07,0.00,117.75:-0.16,0.00,167.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:186.0,9.4,45.0:0,0,0:0,0,0:139,69,78:12,78,67:0,39,37:-,NM_018208.2(ETNK2) c.29C>A (p.Pro10Gln):-,0.15:-,0.102528 1 204120981 . T . . NT END=204124143;NT GT ./. 1 204124306 . C . . NT END=204124947;NT GT ./. 1 204124370 rs3215332 AC A 46 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=AC/0.7857,A/0.2143;DB;DBA=NA;PAF=AC/0.7857,A/0.2143;NP=1186;Gene=REN/NM_000537.3/1;CC=c.1060-66delG;VC=Intron;DM=REN/Asp;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:34:14:0:16:18,16:444,488:0.00,46.27:0.00,10.68:0.00,35.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,10.9:0,0:0,0:128,120:19,29:17,17:-,NM_000537.3(REN) c.1060-66delG:-,0.22:-,NOT_FOUND 1 204124865 rs2368564 C T 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6296,G/.,T/0.3704;Gene=REN/NM_000537.3/1;CC=c.1059+83G>A;VC=Intron;DM=REN/Asp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:11,10:349,302:0.00,28.65:0.00,26.83:0.00,1.83:0.00,1.00:0.00,1.00:0.00,0.65:60,60:5.3,34.1:0,0:0,0:39,63:112,87:23,37:-,NM_000537.3(REN) c.1059+83G>A:-,0.36:-,NOT_FOUND 1 204125047 . C . . NT END=204125305;NT GT ./. 1 204125089 rs3795575 G A 75 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.8708,A/0.1292;Gene=REN/NM_000537.3/1;CC=c.961-43C>T;VC=Intron;DM=REN/Asp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:29:0:0:25,31:801,965:75.31,0.00:23.64,0.00:51.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,9.2:0,0:0,0:116,107:35,43:20,23:NM_000537.3(REN) c.961-43C>T,-:0.14,-:0.137091,- 1 204125448 . C . . NT END=204125804;NT GT ./. 1 204125464 rs3839003 T TCAGACAGACAGA 92 nt VT=INS;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=1;NP=14;PC=0.046;Gene=REN/NM_000537.3/1;CC=c.819-18_819-17insTCTGTCTGTCTG;VC=Intron;DM=REN/Asp;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TCAGACAGACAGA,D:109:66:34:1:1,74,33,1:13,2381,1069,35:-0.11,0.00,91.83,1.65:-0.11,0.00,50.46,0.86:-0.00,0.00,41.37,0.79:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:50,60,70,60:39.0,6.6,1.7,0.0:0,0,1,0:0,0,0,0:101,97,75,28:29,46,74,72:0,31,14,0:-,NM_000537.3(REN) c.819-18_819-17insTCTGTCTGTCTG:-,NOT_FOUND:-,NOT_FOUND 1 204125925 . C . . NT END=204126488;NT GT ./. 1 204126378 rs3730102 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8728,A/0.1272;Gene=REN/NM_000537.3/1;CC=c.698+111C>T;VC=Intron;DM=REN/Asp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:19:0:0:9,13:296,403:27.43,0.00:24.43,0.00:3.00,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:44.4,17.7:0,0:0,0:49,83:102,68:33,29:NM_000537.3(REN) c.698+111C>T,-:0.14,-:NOT_FOUND,- 1 204126498 . C . . NT END=204128526;NT GT ./. 1 204128724 . C . . NT END=204129687;NT GT ./. 1 204128854 rs1464816 T G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.2985,G/0.7015;Gene=REN/NM_000537.3/1;CC=c.493-131A>C;VC=Intron;DM=REN/Asp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:G,T:17:0:0:0:6,11:186,339:16.65,0.00:0.00,0.00:16.65,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:36.7,16.0:0,0:0,0:99,125:51,26:25,15:NM_000537.3(REN) c.493-131A>C,-:0.69,-:NOT_FOUND,- 1 204129554 rs1917539 T C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8133,C/0.1867;Gene=REN/NM_000537.3/1;CC=c.492+134A>G;VC=Intron;DM=REN/Asp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,T:9:9:0:0:4,5:142,129:13.43,0.00:13.43,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:35.5,4.2:0,0:0,0:35,103:115,48:14,45:NM_000537.3(REN) c.492+134A>G,-:0.18,-:NOT_FOUND,- 1 204129807 . C . . NT END=204130419;NT GT ./. 1 204130376 rs2272237 G C 100 nt VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.8045,C/0.1955,T/.;PC=0.019;Gene=REN/NM_000537.3/1;CC=c.373+44C>G;VC=Intron;DM=REN/Asp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:65:57:0:0:33,32:1043,1057:100.43,0.00:68.12,0.00:32.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,5.6:0,0:0,0:48,38:101,82:26,34:NM_000537.3(REN) c.373+44C>G,-:0.22,-:0.258804,- 1 204130544 . C . . NT END=204131140;NT GT ./. 1 204131031 rs11571082 C T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8476,T/0.1524;PC=0.001;Gene=REN/NM_000537.3/1;CC=c.249+110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:14,15:470,441:0.00,42.51:0.00,42.66:0.00,-0.16:0.00,1.00:0.00,1.00:0.00,0.68:60,60:3.9,48.3:0,0:0,0:14,24:136,126:12,16:-,NM_000537.3(REN) c.249+110G>A:-,0.15:-,NOT_FOUND 1 204131186 rs5705 T G 139 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.8299,G/0.1701;PC=0.331;Gene=REN/NM_000537.3/1;CC=c.204A>C;ProtCh=p.T68=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:93:70:0:0:1,45,47:11,1451,1446:-0.09,138.92,0.00:0.01,72.10,0.00:-0.10,66.82,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.0,33.4,12.4:0,0,0:0,0,0:123,80,67:28,61,82:0,26,32:NM_000537.3(REN) c.204A>C (p.(=)),-:0.16,-:0.179533,- 1 204131292 . C . . NT END=204135323;NT GT ./. 1 204135422 . G . . NT END=204159611;NT GT ./. 1 204159542 rs1132506 G C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.4942,C/0.5058;PC=0.001;Gene=KISS1/NM_002256.3/1;CC=c.*70C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:C,G:31:14:0:0:6,25:199,813:16.15,0.00:6.78,0.00:9.37,0.00:0.90,0.00:0.91,0.00:0.95,0.00:60,60:77.3,4.7:0,0:0,0:37,42:113,109:24,23:NM_002256.3(KISS1) c.*70C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 204159787 rs4889 G C 161 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.6701,C/0.3299;PC=0.451;Gene=KISS1/NM_002256.3/1;CC=c.242C>G;ProtCh=p.P81R;VC=Missense;DM=KISS1/Kisspeptin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:117:68:0:0:56,60,1:1692,1844,11:160.73,0.00,-0.12:69.26,0.00,0.01:91.47,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,14.5,55.0:0,0,0:0,0,0:97,83,145:50,63,6:34,38,0:NM_002256.3(KISS1) c.242C>G (p.Pro81Arg),-:0.33,-:0.208957,- 1 204159926 . C . . NT END=204161901;NT GT ./. 1 204162005 . C . . NT END=204167585;NT GT ./. 1 204167625 . C . . NT END=204168322;NT GT ./. 1 204167672 rs3795573 T C 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.8462,C/0.1538;PC=0.011;Gene=GOLT1A/NM_198447.1/1;CC=c.361-48A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:23:0:0:18,18:589,576:56.66,0.00:28.40,0.00:28.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,6.1:0,0:0,0:110,103:40,38:21,24:NM_198447.1(GOLT1A) c.361-48A>G,-:0.16,-:0.184684,- 1 204168387 . C . . NT END=204170760;NT GT ./. 1 204170940 . C . . NT END=204172023;NT GT ./. 1 204170993 rs6700426 A G 63 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.8576,G/0.1424;Gene=GOLT1A/NM_198447.1/1;CC=c.118-54T>C;VC=Intron;DM=GOLT1A/Got1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:38:17:0:0:17,20,1:529,647,12:0.00,63.17,0.13:0.00,18.29,0.28:0.00,44.88,-0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.6,36.1,24.0:0,0,0:0,0,0:85,89,137:65,54,14:39,15,0:-,NM_198447.1(GOLT1A) c.118-54T>C:-,0.12:-,NOT_FOUND 1 204172116 . C . . NT END=204183009;NT GT ./. 1 204183035 . G . . NT END=204192597;NT GT ./. 1 204192714 . C . . NT END=204197210;NT GT ./. 1 204197007 rs7527115 T A 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4892,A/0.5108;Gene=PLEKHA6/NM_014935.4/1;CC=c.3031+204A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:7:0:0:8:261:29.91:25.84:4.08:1.00:1.00:1.00:60:62.2:0:0:24:126:8:NM_014935.4(PLEKHA6) c.3031+204A>T,NM_014935.4(PLEKHA6) c.3031+204A>T:0.52,0.52:NOT_FOUND,NOT_FOUND 1 204197048 rs7519944 C T 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.489,T/0.511;PC=0.937;Gene=PLEKHA6/NM_014935.4/1;CC=c.3031+163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:15:0:0:16:481:55.69:52.21:3.48:1.00:1.00:1.00:60:48.5:0:0:28:120:19:NM_014935.4(PLEKHA6) c.3031+163G>A,NM_014935.4(PLEKHA6) c.3031+163G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 204197357 . C . . NT END=204197855;NT GT ./. 1 204197657 rs4076530 C T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.489,T/0.511;Gene=PLEKHA6/NM_014935.4/1;CC=c.2885+199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:6:0:0:11:323:37.48:20.12:17.36:1.00:1.00:1.00:60:35.4:0:0:41:110:39:NM_014935.4(PLEKHA6) c.2885+199G>A,NM_014935.4(PLEKHA6) c.2885+199G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 204197990 . C . . NT END=204198064;NT GT ./. 1 204198209 rs3795571 A G 388 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.4876,G/0.5124;Gene=PLEKHA6/NM_014935.4/1;CC=c.2607T>C;ProtCh=p.H869=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:107:60:0:0:1,106:17,3396:0.00,387.77:0.00,148.47:0.00,239.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:101.0,36.0:0,0:0,0:43,65:108,78:0,31:NM_014935.4(PLEKHA6) c.2607T>C (p.(=)),NM_014935.4(PLEKHA6) c.2607T>C (p.(=)):0.52,0.52:0.52668,0.52668 1 204198233 . C . . NT END=204199540;NT GT ./. 1 204199381 . G C 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;NP=1;Gene=PLEKHA6/NM_014935.4/1;CC=c.2583+160C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:C,G:12:12:0:0:7,5:228,147:22.60,0.00:22.60,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:41.1,2.6:0,0:0,0:34,35:117,116:26,20:NM_014935.4(PLEKHA6) c.2583+160C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 204199614 rs10900562 C T 327 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.4894,T/0.5106;PC=1.000;Gene=PLEKHA6/NM_014935.4/1;CC=c.2510G>A;ProtCh=p.R837K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:89:64:0:0:1,88:31,2858:1.63,327.28:1.63,175.52:0.00,151.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,39.3:0,0:0,0:10,83:141,64:0,28:NM_014935.4(PLEKHA6) c.2510G>A (p.Arg837Lys),NM_014935.4(PLEKHA6) c.2510G>A (p.Arg837Lys):0.52,0.52:0.52411,0.52411 1 204199715 . C . . NT END=204210502;NT GT ./. 1 204210610 . C . . NT END=204210812;NT GT ./. 1 204210750 rs4412655 C A 232 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.6723,A/0.3277;Gene=PLEKHA6/NM_014935.4/1;CC=c.2302+63G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:A,G:66:44:0:0:65,1:2021,9:232.48,0.11:138.43,0.11:94.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.6,148.0:0,0:0,0:59,84:92,67:36,0:NM_014935.4(PLEKHA6) c.2302+63G>T,NM_014935.4(PLEKHA6) c.2302+63G>T:0.36,0.36:NOT_FOUND,NOT_FOUND 1 204210791 rs4951325 G A 292 nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.6721,A/0.3279;PC=0.043;Gene=PLEKHA6/NM_014935.4/1;CC=c.2302+22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:80:59:0:0:80:2540:291.92:166.13:125.79:1.00:1.00:1.00:60:60.0:0:0:47:97:27:NM_014935.4(PLEKHA6) c.2302+22C>T,NM_014935.4(PLEKHA6) c.2302+22C>T:0.36,0.36:0.323543,0.323543 1 204210943 . C . . NT END=204213991;NT GT ./. 1 204211248 rs6702854 T G 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4892,G/0.5108;Gene=PLEKHA6/NM_014935.4/1;CC=c.2173-306A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,G:6:0:0:0:1,5:10,156:0.73,17.59:0.00,0.00:0.73,17.59:0.00,0.99:0.00,0.00:0.00,0.99:60,60:114.0,50.0:0,0:0,0:100,63:51,88:0,13:NM_014935.4(PLEKHA6) c.2173-306A>C,NM_014935.4(PLEKHA6) c.2173-306A>C:0.52,0.52:NOT_FOUND,NOT_FOUND 1 204214132 . C . . NT END=204214742;NT GT ./. 1 204214358 rs4951327 C A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2941,A/0.7059;Gene=PLEKHA6/NM_014935.4/1;CC=c.2033-227G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:32.2:0:0:126:24:20:NM_014935.4(PLEKHA6) c.2033-227G>T,NM_014935.4(PLEKHA6) c.2033-227G>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 204214855 . C . . NT END=204216492;NT GT ./. 1 204214975 rs67340416 TACACAC T 29 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=144;Gene=PLEKHA6/NM_014935.4/1;CC=c.1921-127_1921-122delGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:TACACAC,T:13:2:0:10:3,10:76,268:0.00,28.51:0.00,5.39:0.00,23.12:0.00,1.00:0.00,0.96:0.00,1.00:60,70:12.7,15.0:0,0:0,0:145,63:5,87:3,21:-,NM_014935.4(PLEKHA6) c.1921-127_1921-122delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 204216410 rs4951329 C T 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.2957,T/0.7043;Gene=PLEKHA6/NM_014935.4/1;CC=c.1920+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:20:0:0:21:640:73.95:70.38:3.58:1.00:1.00:1.00:60:63.7:0:0:33:118:28:NM_014935.4(PLEKHA6) c.1920+83G>A,NM_014935.4(PLEKHA6) c.1920+83G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 1 204216468 rs4512713 C T 119 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.3311,T/0.6689;Gene=PLEKHA6/NM_014935.4/1;CC=c.1920+25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:25:0:0:31:1045:119.25:74.36:44.88:1.00:1.00:1.00:60:61.3:0:0:49:96:26:NM_014935.4(PLEKHA6) c.1920+25G>A,NM_014935.4(PLEKHA6) c.1920+25G>A:0.7,0.7:0.649777,0.649777 1 204216589 . C . . NT END=204217948;NT GT ./. 1 204216601 rs4288652 G A 105 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3323,A/0.6677;PC=0.052;Gene=PLEKHA6/NM_014935.4/1;CC=c.1825-13C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:14:0:0:28:913:104.65:32.70:71.95:1.00:1.00:1.00:60:45.8:0:0:113:35:25:NM_014935.4(PLEKHA6) c.1825-13C>T,NM_014935.4(PLEKHA6) c.1825-13C>T:0.7,0.7:0.649931,0.649931 1 204216762 rs4245724 C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3323,T/0.6677;PC=0.002;Gene=PLEKHA6/NM_014935.4/1;CC=c.1825-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:174:20.22:0.00:20.22:1.00:0.00:1.00:60:35.5:0:0:118:31:12:NM_014935.4(PLEKHA6) c.1825-174G>A,NM_014935.4(PLEKHA6) c.1825-174G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 204218099 . C . . NT END=204218311;NT GT ./. 1 204218393 . C . . NT END=204219673;NT GT ./. 1 204218633 rs10900567 G C 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2945,C/0.7055;Gene=PLEKHA6/NM_014935.4/1;CC=c.1594-241C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:41.0:0:0:119:32:5:NM_014935.4(PLEKHA6) c.1594-241C>G,NM_014935.4(PLEKHA6) c.1594-241C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 204219559 rs3795570 T G 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.3061,G/0.6939;Gene=PLEKHA6/NM_014935.4/1;CC=c.1593+115A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:525:60.12:60.12:0.00:1.00:1.00:0.00:60:40.9:0:0:35:115:20:NM_014935.4(PLEKHA6) c.1593+115A>C,NM_014935.4(PLEKHA6) c.1593+115A>C:0.72,0.72:NOT_FOUND,NOT_FOUND 1 204219743 . C . . NT END=204226480;NT GT ./. 1 204219850 rs4951331 G A 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2949,A/0.7051;Gene=PLEKHA6/NM_014935.4/1;CC=c.1525-108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:2:0:0:15:460:53.09:3.73:49.37:1.00:1.00:1.00:60:47.6:0:0:103:48:27:NM_014935.4(PLEKHA6) c.1525-108C>T,NM_014935.4(PLEKHA6) c.1525-108C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 204226998 . C . . NT END=204228385;NT GT ./. 1 204227165 rs4951336 C T 29 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2819,T/0.7181;Gene=PLEKHA6/NM_014935.4/1;CC=c.1008-168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:1:0:0:10:240:28.66:1.99:26.67:1.00:1.00:1.00:60:52.8:0:0:75:76:37:NM_014935.4(PLEKHA6) c.1008-168G>A,NM_014935.4(PLEKHA6) c.1008-168G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 204228869 . C . . NT END=204230433;NT GT ./. 1 204230577 . C . . NT END=204234069;NT GT ./. 1 204230581 rs3795569 G A 370 nt VT=SNV;PN=T;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.4024,A/0.5976,T/.;PC=1.000;Gene=PLEKHA6/NM_014935.4/1;CC=c.382-5C>T;VC=Intron;DM=PLEKHA6/PH;DM=PLEKHA6/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:100:58:0:0:100:3227:370.15:140.25:229.90:1.00:1.00:1.00:60:38.1:0:0:69:73:29:NM_014935.4(PLEKHA6) c.382-5C>T,NM_014935.4(PLEKHA6) c.382-5C>T:0.62,0.62:0.556897,0.556897 1 204234171 . C . . NT END=204236602;NT GT ./. 1 204234196 rs368865278 G GGT 58 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1;NP=682;PC=0.007;Gene=PLEKHA6/NM_014935.4/1;CC=c.281-28_281-27dupAC;VC=Intron;DM=PLEKHA6/PH;DM=PLEKHA6/PH;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GGT:32:19:18:0:1,13,18:13,411,589:0.26,0.00,58.32:-0.07,0.00,22.49:0.33,0.00,35.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:176.0,23.8,53.0:0,1,0:0,0,0:5,133,107:146,18,41:0,9,13:-,NM_014935.4(PLEKHA6) c.281-27_281-26insAC:-,NOT_FOUND:-,NOT_FOUND 1 204234222 rs4076020 T C 82 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=PLEKHA6/NM_014935.4/1;CC=c.281-52A>G;VC=Intron;DM=PLEKHA6/PH;DM=PLEKHA6/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:9:0:0:24:702:81.51:20.67:60.83:1.00:1.00:1.00:60:67.0:0:0:126:21:16:NM_014935.4(PLEKHA6) c.281-52A>G,NM_014935.4(PLEKHA6) c.281-52A>G:0.73,0.73:0.692519,0.692519 1 204234225 rs4073136 G A 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5357,A/0.4643;PC=0.001;Gene=PLEKHA6/NM_014935.4/1;CC=c.281-55C>T;VC=Intron;DM=PLEKHA6/PH;DM=PLEKHA6/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:8:0:0:23:727:83.65:17.22:66.43:1.00:1.00:1.00:60:67.2:0:0:122:29:18:NM_014935.4(PLEKHA6) c.281-55C>T,NM_014935.4(PLEKHA6) c.281-55C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 204236360 rs4951339 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3652,A/0.6348;Gene=PLEKHA6/NM_014935.4/1;CC=c.280+243C>T;VC=Intron;DM=PLEKHA6/PH;DM=PLEKHA6/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:200:22.86:22.86:0.00:1.00:1.00:0.00:60:66.8:0:0:56:93:29:NM_014935.4(PLEKHA6) c.280+243C>T,NM_014935.4(PLEKHA6) c.280+243C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 204236377 rs4951340 A G 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2961,G/0.7039;PC=0.001;Gene=PLEKHA6/NM_014935.4/1;CC=c.280+226T>C;VC=Intron;DM=PLEKHA6/PH;DM=PLEKHA6/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:280:32.28:32.28:0.00:1.00:1.00:0.00:60:64.4:0:0:39:110:34:NM_014935.4(PLEKHA6) c.280+226T>C,NM_014935.4(PLEKHA6) c.280+226T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 204236676 . C . . NT END=204237335;NT GT ./. 1 204237416 rs10900571 C T 189 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.3674,T/0.6326;PC=1.000;Gene=PLEKHA6/NM_014935.4/1;CC=c.127G>A;ProtCh=p.V43I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:T:49:34:0:0:49:1652:188.56:87.23:101.33:1.00:1.00:1.00:60:36.3:0:0:93:48:24:NM_014935.4(PLEKHA6) c.127G>A (p.Val43Ile),NM_014935.4(PLEKHA6) c.127G>A (p.Val43Ile):0.68,0.68:0.616254,0.616254 1 204237441 . C . . NT END=204242753;NT GT ./. 1 204242869 . C . . NT END=204243714;NT GT ./. 1 204243732 rs10751448 C G 347 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.3315,G/0.6685;PC=0.002;Gene=PLEKHA6/NM_014935.4/1;CC=c.-14+125G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:93:71:0:0:93:3029:347.07:215.39:131.68:1.00:1.00:1.00:60:43.0:0:0:49:100:25:NM_014935.4(PLEKHA6) c.-14+125G>C,NM_014935.4(PLEKHA6) c.-14+125G>C:0.7,0.7:NOT_FOUND,NOT_FOUND 1 204244134 . A . . NT END=204244812;NT GT ./. 1 204244730 rs4245725 C A 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5325,A/0.4675;PC=0.925;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-793G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:18:0:0:19:585:67.52:54.65:12.87:1.00:1.00:1.00:60:68.1:0:0:31:120:20:NM_014935.4(PLEKHA6) c.-94-793G>T,NM_014935.4(PLEKHA6) c.-94-793G>T:0.5,0.5:NOT_FOUND,NOT_FOUND 1 204244747 rs4951058 G A 80 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.3323,A/0.6677;PC=0.006;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-810C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:20:0:0:21:701:80.11:58.99:21.12:1.00:1.00:1.00:60:64.4:0:0:32:117:16:NM_014935.4(PLEKHA6) c.-94-810C>T,NM_014935.4(PLEKHA6) c.-94-810C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 1 204244886 rs11240713 C G 136 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.6548,G/0.3452;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-949G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:22:0:0:35:1198:136.47:55.88:80.59:1.00:1.00:1.00:60:43.6:0:0:89:54:20:NM_014935.4(PLEKHA6) c.-94-949G>C,NM_014935.4(PLEKHA6) c.-94-949G>C:0.38,0.38:NOT_FOUND,NOT_FOUND 1 204244940 . t . . NT END=204249433;NT GT ./. 1 204249583 . A . . NT END=204250078;NT GT ./. 1 204249846 rs147810405 G T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.996,T/0.003994;NP=15;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-5909C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:G,T:11:5:0:0:6,5:171,146:0.00,13.65:0.00,3.64:0.00,10.02:0.00,1.00:0.00,0.95:0.00,0.96:60,60:25.3,52.8:0,0:0,0:44,89:106,61:23,2:-,NM_014935.4(PLEKHA6) c.-94-5909C>A:-,0.01:-,NOT_FOUND 1 204250077 rs4951348 C T 159 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.6538,T/0.3462;PC=0.015;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-6140G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:T:46:38:0:0:46:1370:158.81:103.56:55.25:1.00:1.00:1.00:60:38.7:0:0:34:107:27:NM_014935.4(PLEKHA6) c.-94-6140G>A,NM_014935.4(PLEKHA6) c.-94-6140G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 1 204250216 . g . . NT END=204251763;NT GT ./. 1 204250248 rs4951349 G A 87 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5723,A/0.4277;PC=0.019;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-6311C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:A,C:26:3:0:0:24,2:764,22:86.96,1.12:7.78,0.00:79.18,1.12:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,112.5:0,0:0,0:100,61:50,90:27,28:NM_014935.4(PLEKHA6) c.-94-6311C>T,NM_014935.4(PLEKHA6) c.-94-6311C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 204251943 . G . . NT END=204266214;NT GT ./. 1 204266358 . A . . NT END=204266965;NT GT ./. 1 204266742 rs574478690 A AG 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6733,AG/0.3267;DB;DBA=NA;PAF=A/0.6733,AG/0.3267,AGG/.;DB;DBA=NA;PAF=A/0.9974,G/0.002596;DB;DBA=NA;PAF=A/0.6733,AG/0.3267,AGG/.;NP=3;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-22806_-94-22805insC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:AG:2:3:4:0:2:124:6.95:6.95:0.00:0.51:0.89:0.67:60:32.0:2:0:68:82:34:NM_014935.4(PLEKHA6) c.-94-22806_-94-22805insC,NM_014935.4(PLEKHA6) c.-94-22806_-94-22805insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 204267081 . C . . NT END=204268715;NT GT ./. 1 204268815 . A . . NT END=204270291;NT GT ./. 1 204268993 rs4951355 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.01637,T/0.9836;PC=0.247;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-25056G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:151:17.89:0.00:17.89:1.00:0.00:1.00:60:25.2:0:0:92:58:26:NM_014935.4(PLEKHA6) c.-94-25056G>A,NM_014935.4(PLEKHA6) c.-94-25056G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 204270325 . T . . NT END=204270534;NT GT ./. 1 204270619 . G . . NT END=204276976;NT GT ./. 1 204277031 . A . . NT END=204278152;NT GT ./. 1 204278018 rs560094178 T C 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9794,C/0.02057;NP=48;PC=0.010;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-34081A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,T:11:11:0:0:9,2:289,66:30.93,0.00:30.93,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.2,4.5:0,0:0,0:39,50:112,100:34,31:NM_014935.4(PLEKHA6) c.-94-34081A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 204278228 rs4951063 T C 127 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6488,C/0.3512;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-34291A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:21:0:0:34:1110:127.18:57.42:69.76:1.00:1.00:1.00:60:38.3:0:0:85:48:28:NM_014935.4(PLEKHA6) c.-94-34291A>G,NM_014935.4(PLEKHA6) c.-94-34291A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 1 204278240 . A . . NT END=204278703;NT GT ./. 1 204278922 . g . . NT END=204280608;NT GT ./. 1 204280875 . c . . NT END=204282656;NT GT ./. 1 204281004 rs4951064 C T 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6821,T/0.3179;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-37067G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:395:45.22:0.00:45.22:1.00:0.00:1.00:60:44.2:0:0:110:39:29:NM_014935.4(PLEKHA6) c.-94-37067G>A,NM_014935.4(PLEKHA6) c.-94-37067G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 204282505 rs6700091 C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5553,T/0.4447;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-38568G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:184:21.23:21.23:0.00:1.00:1.00:0.00:60:47.3:0:0:74:76:31:NM_014935.4(PLEKHA6) c.-94-38568G>A,NM_014935.4(PLEKHA6) c.-94-38568G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 1 204282771 rs6659611 T G 228 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.3349,G/0.6651;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-38834A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G:60:44:0:0:60:1992:227.75:129.58:98.17:1.00:1.00:1.00:60:43.2:0:0:63:87:33:NM_014935.4(PLEKHA6) c.-94-38834A>C,NM_014935.4(PLEKHA6) c.-94-38834A>C:0.64,0.64:NOT_FOUND,NOT_FOUND 1 204282862 . C . . NT END=204286292;NT GT ./. 1 204286297 rs11582393 G A 180 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.5555,A/0.4445;PC=0.012;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-42360C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:A:49:39:0:0:49:1565:179.81:117.44:62.37:1.00:1.00:1.00:60:101.2:0:0:37:110:24:NM_014935.4(PLEKHA6) c.-94-42360C>T,NM_014935.4(PLEKHA6) c.-94-42360C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 204286312 rs11582394 G A 187 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.5553,A/0.4447;PC=0.008;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-42375C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A:50:40:0:0:50:1636:187.44:117.92:69.52:1.00:1.00:1.00:60:102.3:0:0:52:93:26:NM_014935.4(PLEKHA6) c.-94-42375C>T,NM_014935.4(PLEKHA6) c.-94-42375C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 204286323 rs11585014 A G 201 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.5553,G/0.4447;Gene=PLEKHA6/NM_014935.4/1;CC=c.-94-42386T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:G:54:42:0:0:54:1754:201.05:120.59:80.47:1.00:1.00:1.00:60:92.2:0:0:50:96:20:NM_014935.4(PLEKHA6) c.-94-42386T>C,NM_014935.4(PLEKHA6) c.-94-42386T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 1 204286397 . T . . NT END=204289558;NT GT ./. 1 204289393 rs4245729 G A 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6336,A/0.3664;PC=0.001;Gene=PLEKHA6/NM_014935.4/1;CC=c.-95+39429C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:196:22.46:22.46:0.00:1.00:1.00:0.00:60:35.8:0:0:59:91:16:NM_014935.4(PLEKHA6) c.-95+39429C>T,NM_014935.4(PLEKHA6) c.-95+39429C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 1 204289617 rs4245730 T C 217 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.6328,C/0.3672;Gene=PLEKHA6/NM_014935.4/1;CC=c.-95+39205A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C:57:40:0:0:57:1902:217.35:103.06:114.28:1.00:1.00:1.00:60:36.8:0:0:66:78:30:NM_014935.4(PLEKHA6) c.-95+39205A>G,NM_014935.4(PLEKHA6) c.-95+39205A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 1 204289667 . T . . NT END=204294976;NT GT ./. 1 204295095 . G . . NT END=204296079;NT GT ./. 1 204296164 . C . . NT END=204328687;NT GT ./. 1 204315882 rs544552522 C CT 43 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4499,CT/0.5501,CTT/.;DB;DBA=NA;PAF=C/0.4499,CT/0.5501;DB;DBA=NA;PAF=C/0.4499,CT/0.5501;NP=1;NP=1009;PC=0.997;Gene=PLEKHA6/NM_014935.4/1;CC=c.-95+12939_-95+12940insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,CT,D:19:22:16:1:5,13,1:173,514,30:0.00,42.99,2.03:0.00,32.49,2.04:0.00,10.50,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:8.6,24.6,23.0:0,3,0:0,0,0:105,49,40:14,96,99:43,19,0:-,NM_014935.4(PLEKHA6) c.-95+12939_-95+12940insA:-,NOT_FOUND:-,NOT_FOUND 1 204316082 rs11240724 C T 125 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.2891,T/0.7109;PC=1.000;Gene=PLEKHA6/NM_014935.4/1;CC=c.-95+12740G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:21:0:0:34:1093:125.44:59.84:65.59:1.00:1.00:1.00:60:34.4:0:0:85:63:41:NM_014935.4(PLEKHA6) c.-95+12740G>A,NM_014935.4(PLEKHA6) c.-95+12740G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 204328741 rs1996002 A T 395 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.5226,T/0.4774;Gene=PLEKHA6/NM_014935.4/1;CC=c.-95+81T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:106:76:0:0:106:3446:394.93:224.87:170.07:1.00:1.00:1.00:60:40.0:0:0:64:81:29:NM_014935.4(PLEKHA6) c.-95+81T>A,NM_014935.4(PLEKHA6) c.-95+81T>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 204328921 . G . . NT END=204369824;NT GT ./. 1 204369875 rs2942133 T G 118 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.5064,A/.,G/0.4936 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G,T:33:22:0:0:32,1:1041,11:117.70,0.00:50.93,0.00:66.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,58.0:0,0:0,0:72,100:69,50:28,0:chr1 g.204369874T>G (intergenic),chr1 g.204369874T>G (intergenic):0.53,0.53:NOT_FOUND,NOT_FOUND 1 204369918 . C . . NT END=204372491;NT GT ./. 1 204373377 . c . . NT END=204373616;NT GT ./. 1 204374654 rs551600593 GA G 13 rn VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=GA/0.9956,G/0.004393;Gene=PPP1R15B/NM_032833.4/1;CC=c.*565delT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,GA,T,I,G:72:42:1:6:2,62,1,1,6:21,1964,21,34,185:-0.24,0.00,0.42,1.65,12.56:-0.35,0.00,-0.17,0.84,6.92:0.11,0.00,0.59,0.81,5.64:0.00,0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.00,0.94:60,60,60,60,60:28.0,14.8,54.0,0.0,4.3:0,0,0,0,0:0,0,0,0,0:15,68,109,84,21:134,75,42,44,126:7,34,0,0,14:-,NM_032833.3(PPP1R15B) c.*556T[9]:-,NOT_FOUND:-,NOT_FOUND 1 204375079 . C CA 26 rn VT=INS;SST=Single;DP=93;Gene=PPP1R15B/NM_032833.4/1;CC=c.*140dupT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,C,CA,D:93:55:11:3:5,75,11,2:70,2325,350,50:2.01,0.00,25.97,1.96:-1.00,0.00,9.76,0.47:3.01,0.00,16.20,1.49:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:60,60,60,60:55.8,16.7,31.5,11.5:0,0,0,0:0,0,0,0:49,74,118,5:102,74,33,138:14,43,16,1:-,NM_032833.3(PPP1R15B) c.*140dupT:-,NOT_FOUND:-,NOT_FOUND 1 204375442 . C . . NT END=204378619;NT GT ./. 1 204375669 rs3014624 G C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3476,A/.,C/0.6524;PC=0.059;Gene=PPP1R15B/NM_032833.4/1;CC=c.1921-228C>G;VC=Intron;DM=PPP1R15B/PP1c_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:13:0:0:0:13:290:34.68:0.00:34.68:1.00:0.00:1.00:60:32.0:0:0:78:72:44:NM_032833.3(PPP1R15B) c.1921-228C>G,NM_032833.3(PPP1R15B) c.1921-228C>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 204379617 rs3014626 T C 461 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.03115,T/0.9688;PC=0.220;Gene=PPP1R15B/NM_032833.4/1;CC=c.923A>G;ProtCh=p.N308S;VC=Missense;DM=PPP1R15B/CReP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:119:81:0:0:119:4040:460.67:247.94:212.73:1.00:1.00:1.00:60:40.3:0:0:73:72:30:NM_032833.3(PPP1R15B) c.923A>G (p.Asn308Ser),NM_032833.3(PPP1R15B) c.923A>G (p.Asn308Ser):0.97,0.97:0.96863,0.96863 1 204380540 . C . . NT END=204393979;NT GT ./. 1 204394169 . C . . NT END=204394740;NT GT ./. 1 204394870 . C . . NT END=204396775;NT GT ./. 1 204396883 . C . . NT END=204397266;NT GT ./. 1 204397349 . C . . NT END=204399048;NT GT ./. 1 204399167 . C . . NT END=204400796;NT GT ./. 1 204400922 . C . . NT END=204401327;NT GT ./. 1 204401530 . C . . NT END=204402443;NT GT ./. 1 204402554 . C . . NT END=204402920;NT GT ./. 1 204403078 . C . . NT END=204403566;NT GT ./. 1 204403737 . C . . NT END=204408062;NT GT ./. 1 204408200 . C . . NT END=204409319;NT GT ./. 1 204409159 rs199808498 T TC 73 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2081;Gene=PIK3C2B/NM_002646.3/1;CC=c.3379+160_3379+161insG;VC=Intron;DM=PIK3C2B/PI3_PI4_kinase;DM=PIK3C2B/PI3_PI4_kinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:TC:20:20:20:0:20:639:73.43:73.43:0.00:1.00:1.00:0.00:60:22.6:0:0:55:96:29:NM_002646.3(PIK3C2B) c.3379+160_3379+161insG,NM_002646.3(PIK3C2B) c.3379+160_3379+161insG:0.92,0.92:NOT_FOUND,NOT_FOUND 1 204409281 rs3014631 C G 247 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.08786,A/.,G/0.9121,T/.;PC=0.208;Gene=PIK3C2B/NM_002646.3/1;CC=c.3379+39G>C;VC=Intron;DM=PIK3C2B/PI3_PI4_kinase;DM=PIK3C2B/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:G,T:70:61:0:0:69,1:2149,20:247.17,0.71:175.62,0.00:71.55,0.71:1.00,0.00:1.00,0.00:1.00,0.00:70,60:37.4,133.0:0,0:0,0:46,43:97,71:26,0:NM_002646.3(PIK3C2B) c.3379+39G>C,NM_002646.3(PIK3C2B) c.3379+39G>C:0.92,0.92:0.913578,0.913578 1 204409450 . C . . NT END=204410598;NT GT ./. 1 204410447 rs2999496 A G 18 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.08786,G/0.9121;Gene=PIK3C2B/NM_002646.3/1;CC=c.3249+152T>C;VC=Intron;DM=PIK3C2B/PI3_PI4_kinase;DM=PIK3C2B/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G:6:6:0:0:6:156:18.29:16.35:1.94:1.00:1.00:1.00:60:57.0:0:0:53:97:32:NM_002646.3(PIK3C2B) c.3249+152T>C,NM_002646.3(PIK3C2B) c.3249+152T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 204410692 . C . . NT END=204411653;NT GT ./. 1 204410861 rs2942125 T C 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.09325,C/0.9067;Gene=PIK3C2B/NM_002646.3/1;CC=c.3157-170A>G;VC=Intron;DM=PIK3C2B/PI3_PI4_kinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:252:29.01:0.00:29.01:1.00:0.00:1.00:60:37.1:0:0:76:74:40:NM_002646.3(PIK3C2B) c.3157-170A>G,NM_002646.3(PIK3C2B) c.3157-170A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 204411762 . C . . NT END=204412544;NT GT ./. 1 204412726 . C . . NT END=204413195;NT GT ./. 1 204413291 . C . . NT END=204413458;NT GT ./. 1 204413297 rs2292459 C T 154 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.3892,A/.,T/0.6108;Gene=PIK3C2B/NM_002646.3/1;CC=c.2773-7G>A;VC=Intron;DM=PIK3C2B/PI3Ka;DM=PIK3C2B/PI3Ka GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:T:42:27:0:0:42:1342:154.11:71.18:82.94:1.00:1.00:1.00:60:67.9:0:0:96:49:27:NM_002646.3(PIK3C2B) c.2773-7G>A,NM_002646.3(PIK3C2B) c.2773-7G>A:0.62,0.62:0.710518,0.710518 1 204413299 rs2292460 G A 156 nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.4385,A/0.5615;Gene=PIK3C2B/NM_002646.3/1;CC=c.2773-9C>T;VC=Intron;DM=PIK3C2B/PI3Ka;DM=PIK3C2B/PI3Ka GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:26:0:0:42:1364:156.39:71.39:85.00:1.00:1.00:1.00:60:67.5:0:0:98:47:27:NM_002646.3(PIK3C2B) c.2773-9C>T,NM_002646.3(PIK3C2B) c.2773-9C>T:0.58,0.58:0.69268,0.69268 1 204413553 . C . . NT END=204415083;NT GT ./. 1 204413740 rs3014632 C T 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1428,T/0.8572;Gene=PIK3C2B/NM_002646.3/1;CC=c.2679-188G>A;VC=Intron;DM=PIK3C2B/PI3Ka;DM=PIK3C2B/PI3Ka GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:314:36.54:0.00:36.54:1.00:0.00:1.00:60:91.3:0:0:88:63:42:NM_002646.3(PIK3C2B) c.2679-188G>A,NM_002646.3(PIK3C2B) c.2679-188G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 204413748 rs3014633 C T 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4405,T/0.5595;PC=0.005;Gene=PIK3C2B/NM_002646.3/1;CC=c.2679-196G>A;VC=Intron;DM=PIK3C2B/PI3Ka;DM=PIK3C2B/PI3Ka GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:309:36.04:0.00:36.04:1.00:0.00:1.00:60:93.1:0:0:95:56:43:NM_002646.3(PIK3C2B) c.2679-196G>A,NM_002646.3(PIK3C2B) c.2679-196G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 204413845 rs2999495 G A 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.143,A/0.857;Gene=PIK3C2B/NM_002646.3/1;CC=c.2679-293C>T;VC=Intron;DM=PIK3C2B/PI3Ka;DM=PIK3C2B/PI3Ka GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:159:18.70:0.00:18.70:1.00:0.00:1.00:60:88.5:0:0:94:56:44:NM_002646.3(PIK3C2B) c.2679-293C>T,NM_002646.3(PIK3C2B) c.2679-293C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 204415273 . C . . NT END=204416563;NT GT ./. 1 204416707 . C . . NT END=204418312;NT GT ./. 1 204417972 rs3106366 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4421,A/0.5579;Gene=PIK3C2B/NM_002646.3/1;CC=c.2346+341C>T;VC=Intron;DM=PIK3C2B/PI3K_C2;DM=PIK3C2B/PI3K_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:77.2:0:0:58:91:17:NM_002646.3(PIK3C2B) c.2346+341C>T,NM_002646.3(PIK3C2B) c.2346+341C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 204417986 rs3106367 C A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.129,A/0.871;Gene=PIK3C2B/NM_002646.3/1;CC=c.2346+327G>T;VC=Intron;DM=PIK3C2B/PI3K_C2;DM=PIK3C2B/PI3K_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:77.2:0:0:72:77:17:NM_002646.3(PIK3C2B) c.2346+327G>T,NM_002646.3(PIK3C2B) c.2346+327G>T:0.88,0.88:NOT_FOUND,NOT_FOUND 1 204418198 rs2271427 T C 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.3271,C/0.6729;Gene=PIK3C2B/NM_002646.3/1;CC=c.2346+115A>G;VC=Intron;DM=PIK3C2B/PI3K_C2;DM=PIK3C2B/PI3K_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:29:0:0:29:940:107.78:107.78:0.00:1.00:1.00:0.00:60:38.6:0:0:34:117:31:NM_002646.3(PIK3C2B) c.2346+115A>G,NM_002646.3(PIK3C2B) c.2346+115A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 204418425 . C . . NT END=204418977;NT GT ./. 1 204418645 rs3014636 C T 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1348,T/0.8652;Gene=PIK3C2B/NM_002646.3/1;CC=c.2235-221G>A;VC=Intron;DM=PIK3C2B/PI3K_C2;DM=PIK3C2B/PI3K_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:3:0:0:9:275:31.79:9.73:22.06:1.00:1.00:1.00:60:49.8:0:0:114:37:33:NM_002646.3(PIK3C2B) c.2235-221G>A,NM_002646.3(PIK3C2B) c.2235-221G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 204418889 rs2999492 C T 99 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.3814,T/0.6186;Gene=PIK3C2B/NM_002646.3/1;CC=c.2234+89G>A;VC=Intron;DM=PIK3C2B/PI3K_C2;DM=PIK3C2B/PI3K_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:C,T:30:30:0:0:1,29:10,868:0.00,99.01:0.00,93.32:0.00,5.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,69.2:0,0:0,0:43,62:108,89:0,32:NM_002646.3(PIK3C2B) c.2234+89G>A,NM_002646.3(PIK3C2B) c.2234+89G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 204418939 rs3014637 C T 196 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.4421,T/0.5579;PC=0.001;Gene=PIK3C2B/NM_002646.3/1;CC=c.2234+39G>A;VC=Intron;DM=PIK3C2B/PI3K_C2;DM=PIK3C2B/PI3K_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:49:0:0:52:1710:195.74:143.35:52.39:1.00:1.00:1.00:60:52.9:0:0:38:105:30:NM_002646.3(PIK3C2B) c.2234+39G>A,NM_002646.3(PIK3C2B) c.2234+39G>A:0.57,0.57:0.687779,0.687779 1 204419146 . C . . NT END=204423796;NT GT ./. 1 204423609 . CA C 8 idl,rn VT=DEL;SST=Single;DP=14;PC=0.005;Gene=PIK3C2B/NM_002646.3/1;CC=c.2066+187delT;VC=Intron;DM=PIK3C2B/PI3K_C2;DM=PIK3C2B/PI3K_C2;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CA,I,C:10:14:1:7:6,1,3:197,34,218:0.00,2.54,7.70:0.00,2.54,7.70:0.00,0.00,0.00:0.00,0.00,0.56:0.00,0.00,0.56:0.00,0.00,0.00:60,60,60:35.5,0.0,51.7:0,0,4:0,0,0:62,100,18:89,51,133:38,0,15:-,NM_002646.3(PIK3C2B) c.2066+187delT:-,NOT_FOUND:-,NOT_FOUND 1 204423920 . C . . NT END=204424983;NT GT ./. 1 204424232 rs2055938 G A 15 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4189,A/0.5811;Gene=PIK3C2B/NM_002646.3/1;CC=c.1944-313C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:129:14.81:1.99:12.82:1.00:1.00:1.00:60:35.8:0:0:115:35:10:NM_002646.3(PIK3C2B) c.1944-313C>T,NM_002646.3(PIK3C2B) c.1944-313C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 204425180 . C . . NT END=204426164;NT GT ./. 1 204425431 rs2942143 C T 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4387,T/0.5613;Gene=PIK3C2B/NM_002646.3/1;CC=c.1748-252G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:252:29.01:0.00:29.01:1.00:0.00:1.00:60:61.0:0:0:129:19:5:NM_002646.3(PIK3C2B) c.1748-252G>A,NM_002646.3(PIK3C2B) c.1748-252G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 1 204426024 . ACACACACACACC A 11 nt VT=DEL;SST=Single;DP=24;PC=0.001;Gene=PIK3C2B/NM_002646.3/1;CC=c.1747+129_1747+140delGGTGTGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:ACACACACACACC,G,A:24:19:0:5:19,1,4:603,12,134:0.00,0.10,10.70:0.00,-0.25,11.13:0.00,0.35,-0.43:0.00,0.00,0.68:0.00,0.00,0.93:0.00,0.00,0.72:70,60,60:49.7,71.0,41.2:18,1,0:0,0,0:56,51,89:90,100,60:36,0,13:-,NM_002646.3(PIK3C2B) c.1747+129_1747+140delGGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 204426026 . ACACACACACC A 13 idl,nt VT=DEL;SST=Single;DP=20;NP=8;PC=0.001;Gene=PIK3C2B/NM_002646.3/1;CC=c.1747+129_1747+138delGGTGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:ACACACACACC,A:20:15:0:10:15,5:474,157:0.00,13.21:0.00,9.31:0.00,3.89:0.00,0.85:0.00,0.97:0.00,0.87:70,60:53.0,54.8:15,0:0,0:41,89:98,62:31,11:-,NM_002646.3(PIK3C2B) c.1747+129_1747+138delGGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 204426028 . ACACACACC A 55 idl,nt VT=DEL;SST=Single;DP=15;NP=10;PC=0.001;Gene=PIK3C2B/NM_002646.3/1;CC=c.1747+129_1747+136delGGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:11:0:25:15:476:54.75:38.37:16.38:1.00:1.00:1.00:70:53.0:0:0:43:96:31:NM_002646.3(PIK3C2B) c.1747+129_1747+136delGGTGTGTG,NM_002646.3(PIK3C2B) c.1747+129_1747+136delGGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 204426052 rs377111253 A C 85 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4229,C/0.5771;DB;DBA=NA;PAF=NA;Gene=PIK3C2B/NM_002646.3/1;CC=c.1747+113T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:60:C,G:26:20:0:0:25,1:731,6:84.55,0.11:60.43,0.11:24.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:51.7,126.0:5,0:0,0:74,15:76,134:34,0:NM_002646.3(PIK3C2B) c.1747+113T>G,NM_002646.3(PIK3C2B) c.1747+113T>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 204426199 . C . . NT END=204426855;NT GT ./. 1 204427003 . C . . NT END=204429005;NT GT ./. 1 204429070 . C . . NT END=204429451;NT GT ./. 1 204429212 rs5013460 A T 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1128,T/0.8872;Gene=PIK3C2B/NM_002646.3/1;CC=c.1503-143T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:1:0:0:13:397:45.86:3.98:41.88:1.00:1.00:1.00:60:136.7:0:0:114:37:26:NM_002646.3(PIK3C2B) c.1503-143T>A,NM_002646.3(PIK3C2B) c.1503-143T>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 204429213 rs5013459 T G 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1128,G/0.8872;Gene=PIK3C2B/NM_002646.3/1;CC=c.1503-144A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:G,T:11:1:0:0:10,1:313,7:34.86,0.00:4.04,0.00:30.82,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:155.2,161.0:0,0:0,0:91,118:59,33:31,0:NM_002646.3(PIK3C2B) c.1503-144A>C,NM_002646.3(PIK3C2B) c.1503-144A>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 204429215 rs5013458 T A 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1128,A/0.8872;PC=0.001;Gene=PIK3C2B/NM_002646.3/1;CC=c.1503-146A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:1:0:0:11:359:41.12:3.78:37.34:1.00:1.00:1.00:60:155.7:0:0:96:55:29:NM_002646.3(PIK3C2B) c.1503-146A>T,NM_002646.3(PIK3C2B) c.1503-146A>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 204429216 rs5013457 A G 39 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1128,G/0.8872;PC=0.001;Gene=PIK3C2B/NM_002646.3/1;CC=c.1503-147T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:1:0:0:11:339:39.12:3.98:35.14:1.00:1.00:1.00:60:155.7:0:0:97:54:29:NM_002646.3(PIK3C2B) c.1503-147T>C,NM_002646.3(PIK3C2B) c.1503-147T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 204429285 rs2999485 A G 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.07448,G/0.9255;Gene=PIK3C2B/NM_002646.3/1;CC=c.1502+167T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:5:0:0:10:329:37.65:19.98:17.66:1.00:1.00:1.00:60:94.5:0:0:50:101:42:NM_002646.3(PIK3C2B) c.1502+167T>C,NM_002646.3(PIK3C2B) c.1502+167T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 204429532 . C . . NT END=204429677;NT GT ./. 1 204429790 . C . . NT END=204433139;NT GT ./. 1 204429838 rs2271414 C G 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.2356,G/0.7644;PC=0.017;Gene=PIK3C2B/NM_002646.3/1;CC=c.1311-49G>C;VC=Intron;DM=PIK3C2B/PI3K_rbd;DM=PIK3C2B/PI3K_rbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:8:0:0:20:619:71.37:18.18:53.18:1.00:1.00:1.00:60:34.6:0:0:114:35:27:NM_002646.3(PIK3C2B) c.1311-49G>C,NM_002646.3(PIK3C2B) c.1311-49G>C:0.79,0.79:0.82016,0.82016 1 204433093 rs2271415 A C 221 nt VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.4511,C/0.5489;Gene=PIK3C2B/NM_002646.3/1;CC=c.1310+47T>G;VC=Intron;DM=PIK3C2B/PI3K_rbd;DM=PIK3C2B/PI3K_rbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:59:52:0:0:59:1931:221.17:162.20:58.96:1.00:1.00:1.00:60:43.0:0:0:39:112:22:NM_002646.3(PIK3C2B) c.1310+47T>G,NM_002646.3(PIK3C2B) c.1310+47T>G:0.58,0.58:0.662002,0.662002 1 204433261 . C . . NT END=204433577;NT GT ./. 1 204433511 rs397729249 T TC 155 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.08446,TC/0.9155;DB;DBA=NA;PAF=T/0.08446,TC/0.9155;NP=3449;Gene=PIK3C2B/NM_002646.3/1;CC=c.1189+66dupG;VC=Intron;DM=PIK3C2B/PI3K_rbd;DM=PIK3C2B/PI3K_rbd;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T,TC:46:36:44:0:2,44:60,1372:0.00,154.59:0.00,113.89:0.00,40.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.0,4.5:0,0:0,0:146,44:4,103:1,30:NM_002646.3(PIK3C2B) c.1189+66_1189+67insG,NM_002646.3(PIK3C2B) c.1189+66_1189+67insG:0.93,0.93:NOT_FOUND,NOT_FOUND 1 204433733 . C . . NT END=204434346;NT GT ./. 1 204434277 rs2942149 T C 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.08446,C/0.9155;PC=0.022;Gene=PIK3C2B/NM_002646.3/1;CC=c.1034+70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:12:0:0:13:429:49.10:45.62:3.48:1.00:1.00:1.00:60:84.8:0:0:75:76:44:NM_002646.3(PIK3C2B) c.1034+70A>G,NM_002646.3(PIK3C2B) c.1034+70A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 204434448 . C . . NT END=204437997;NT GT ./. 1 204438334 rs1124777 C T 437 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.272,T/0.728;Gene=PIK3C2B/NM_002646.3/1;CC=c.597G>A;ProtCh=p.P199=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:115:67:0:0:115:3827:437.43:194.65:242.78:1.00:1.00:1.00:60:41.1:0:0:88:59:29:NM_002646.3(PIK3C2B) c.597G>A (p.(=)),NM_002646.3(PIK3C2B) c.597G>A (p.(=)):0.77,0.77:0.776718,0.776718 1 204438643 rs1553921 G T 308 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.2728,T/0.7272;PC=0.882;Gene=PIK3C2B/NM_002646.3/1;CC=c.288C>A;ProtCh=p.L96=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:86:59:0:0:86:2671:307.98:164.81:143.17:1.00:1.00:1.00:60:38.3:0:0:58:90:33:NM_002646.3(PIK3C2B) c.288C>A (p.(=)),NM_002646.3(PIK3C2B) c.288C>A (p.(=)):0.77,0.77:0.776257,0.776257 1 204438931 . G . . NT END=204494455;NT GT ./. 1 204494475 . G . . NT END=204494611;NT GT ./. 1 204494725 . G . . NT END=204495487;NT GT ./. 1 204495563 . G . . NT END=204499811;NT GT ./. 1 204499946 . G . . NT END=204501318;NT GT ./. 1 204501375 . G . . NT END=204506557;NT GT ./. 1 204506626 . G . . NT END=204507336;NT GT ./. 1 204507437 . G . . NT END=204511911;NT GT ./. 1 204512073 . G . . NT END=204513662;NT GT ./. 1 204513813 . G . . NT END=204515924;NT GT ./. 1 204516006 . G . . NT END=204518240;NT GT ./. 1 204518811 . T . . NT END=204586978;NT GT ./. 1 204586812 rs3789045 C T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8157,T/0.1843;Gene=LRRN2/NM_006338.2/1;CC=c.*167G>A;VC=3UTR;Gene=LRRN2/NM_201630.1/0;CC=c.*167G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:C,T:11:11:0:0:6,5:206,156:0.00,14.69:0.00,14.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.0,31.2:0,0:0,0:50,16:96,133:29,10:-,NM_006338.2(LRRN2) c.*167G>A:-,0.19:-,NOT_FOUND 1 204587047 rs11588857 G A 101 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.8157,A/0.1843;PC=0.999;Gene=LRRN2/NM_006338.2/1;CC=c.2074C>T;ProtCh=p.P692S;VC=Missense;Gene=LRRN2/NM_201630.1/0;CC=c.2074C>T;ProtCh=p.P692S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:74:0:0:34,55:1109,1744:101.43,0.00:68.09,0.00:33.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,7.3:0,0:0,0:45,47:105,98:22,30:NM_006338.2(LRRN2) c.2074C>T (p.Pro692Ser),-:0.19,-:0.168307,- 1 204587569 rs3747631 G C 272 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=184;DB;DBA=NA;PAF=G/0.8153,A/.,C/0.1847;PC=0.998;Gene=LRRN2/NM_006338.2/1;CC=c.1552C>G;ProtCh=p.L518V;VC=Missense;Gene=LRRN2/NM_201630.1/0;CC=c.1552C>G;ProtCh=p.L518V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:184:119:0:0:2,85,96,1:18,2859,3196,9:-0.29,272.13,0.00,-0.17:-0.21,140.57,0.00,-0.05:-0.08,131.55,0.00,-0.12:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:103.5,41.5,10.5,142.0:0,0,0,0:0,0,0,0:66,71,68,82:78,79,77,64:33,39,35,0:NM_006338.2(LRRN2) c.1552C>G (p.Leu518Val),-:0.19,-:0.168614,- 1 204588140 rs3747630 G A 192 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=G/0.7893,A/0.2107;PC=1.000;Gene=LRRN2/NM_006338.2/1;CC=c.981C>T;ProtCh=p.H327=;VC=Silent;Gene=LRRN2/NM_201630.1/0;CC=c.981C>T;ProtCh=p.H327=;VC=Silent;DM=LRRN2/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:124:76:0:0:63,61:1992,1965:191.88,0.00:87.94,0.00:103.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,7.7:0,0:0,0:93,73:58,76:36,34:NM_006338.2(LRRN2) c.981C>T (p.(=)),-:0.21,-:0.199523,- 1 204589101 rs3789044 G A 189 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.8213,A/0.1787;PC=0.523;Gene=LRRN2/NM_006338.2/1;CC=c.20C>T;ProtCh=p.P7L;VC=Missense;Gene=LRRN2/NM_201630.1/0;CC=c.20C>T;ProtCh=p.P7L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:91:0:0:64,87:2030,2871:188.76,0.00:87.95,0.00:100.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,7.9:0,0:0,0:63,66:87,78:30,29:NM_006338.2(LRRN2) c.20C>T (p.Pro7Leu),-:0.19,-:0.167104,- 1 204589347 . C . . NT END=204797803;NT GT ./. 1 204628737 rs367566248 GGT G 16 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GGT/0.3504,G/0.6496;DB;DBA=NA;PAF=GGT/0.3504,G/0.6496;NP=273;Gene=LRRN2/NM_006338.2/1;CC=c.-227+23259_-227+23260delAC;VC=Intron;Gene=LRRN2/NM_201630.1/0;CC=c.-227+25709_-227+25710delAC;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:GGT,G:6:6:0:6:1,5:32,180:0.00,15.71:0.00,10.76:0.00,4.95:0.00,0.98:0.00,1.00:0.00,0.93:60,70:0.0,21.2:0,1:0,0:0,62:151,77:0,25:-,NM_006338.2(LRRN2) c.-227+23259_-227+23260delAC:-,NOT_FOUND:-,NOT_FOUND 1 204668280 rs10751426 C T 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3768,T/0.6232 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:290:33.26:23.21:10.04:1.00:1.00:1.00:60:46.3:0:0:47:99:30:chr1 g.204668279C>T (intergenic),chr1 g.204668279C>T (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 1 204702551 rs59462856 G GCA 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=294;NP=4;NP=8;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:G,GCA:5:4:3:0:2,3:57,95:0.00,9.47:0.00,2.91:0.00,6.56:0.00,0.78:0.00,0.97:0.00,0.78:60,60:0.0,7.0:0,0:0,0:86,78:64,51:61,25:-,chr1 g.204702551_204702552insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 204797911 . G . . NT END=204839837;NT GT ./. 1 204799134 rs72092912 GGTGT G 19 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GGTGT/0.4155,G/0.5845;DB;DBA=NA;PAF=GGTGT/0.4155,G/0.5845;DB;DBA=NA;PAF=GGTGT/0.4155,G/0.5845;NP=84;PC=0.016;Gene=NFASC/NM_001005389.1/0;CC=c.-200+1261_-200+1264delGTGT;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.-200+1261_-200+1264delGTGT;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.-200+1261_-200+1264delGTGT;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.-200+1261_-200+1264delGTGT;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.-200+1261_-200+1264delGTGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:GGTGT,G:8:5:0:7:2,6:67,206:0.00,18.85:0.00,6.71:0.00,12.14:0.00,0.99:0.00,0.99:0.00,0.99:60,60:0.0,2.7:0,1:0,0:119,76:30,73:7,12:-,NM_001005388.2(NFASC) c.-200+1225_-200+1228delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 204840199 . G . . NT END=204889759;NT GT ./. 1 204889869 . G . . NT END=204913353;NT GT ./. 1 204913535 . G . . NT END=204919684;NT GT ./. 1 204913588 rs74138665 T G 14 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.9806,G/0.01937;Gene=NFASC/NM_001005389.1/0;CC=c.91+54T>G;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.91+54T>G;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.91+54T>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.91+54T>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.91+54T>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.91+54T>G;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,G,T:35:9:0:0:1,10,24:12,177,566:0.05,13.54,0.00:0.27,-1.01,0.00:-0.22,14.55,0.00:0.00,1.00,0.00:0.00,0.92,0.00:0.00,1.00,0.00:60,60,60:20.0,146.0,33.2:0,0,0:0,0,0:141,85,119:9,37,22:0,42,27:NM_001005388.2(NFASC) c.91+54T>G,-:0.01,-:0.019273,- 1 204913652 rs2595961 A G 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3143,G/0.6857;Gene=NFASC/NM_001005389.1/0;CC=c.91+118A>G;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.91+118A>G;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.91+118A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.91+118A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.91+118A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.91+118A>G;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:0:0:0:19:568:65.79:0.00:65.79:1.00:0.00:1.00:60:78.9:0:0:105:46:23:NM_001005388.2(NFASC) c.91+118A>G,NM_001005388.2(NFASC) c.91+118A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 204913752 rs2802834 G C 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6276,C/0.3724;PC=0.019;Gene=NFASC/NM_001005389.1/0;CC=c.91+218G>C;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.91+218G>C;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.91+218G>C;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.91+218G>C;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.91+218G>C;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.91+218G>C;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:285:32.79:0.00:32.79:1.00:0.00:1.00:60:50.6:0:0:99:52:30:NM_001005388.2(NFASC) c.91+218G>C,NM_001005388.2(NFASC) c.91+218G>C:0.38,0.38:NOT_FOUND,NOT_FOUND 1 204919703 . G . . NT END=204921138;NT GT ./. 1 204921245 . G . . NT END=204923315;NT GT ./. 1 204921258 rs12141283 A G 170 nt VT=SNV;PN=G;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.7576,G/0.2424;Gene=NFASC/NM_001005389.1/0;CC=c.215+14A>G;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.197+14A>G;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.215+14A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.197+14A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.197+14A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.197+14A>G;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set;DM=NFASC/I-set;DM=NFASC/I-set;DM=NFASC/I-set;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:99:A,G:46:20:0:0:1,45:29,1504:0.00,169.75:0.00,51.56:0.00,118.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:150.0,40.6:1,0:0,0:150,105:1,41:0,18:NM_001005388.2(NFASC) c.215+14A>G,NM_001005388.2(NFASC) c.215+14A>G:0.25,0.25:0.319852,0.319852 1 204923513 . G . . NT END=204923956;NT GT ./. 1 204924080 . G . . NT END=204926783;NT GT ./. 1 204926955 . G . . NT END=204931235;NT GT ./. 1 204931287 . G . . NT END=204937376;NT GT ./. 1 204937489 . G . . NT END=204937925;NT GT ./. 1 204938111 . G . . NT END=204939743;NT GT ./. 1 204939876 . G . . NT END=204942403;NT GT ./. 1 204942163 rs61817611 C T 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7901,T/0.2099;Gene=NFASC/NM_001005389.1/0;CC=c.1136-241C>T;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.1118-241C>T;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.1136-241C>T;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.1169-241C>T;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.1169-241C>T;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.1169-241C>T;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:296:33.89:33.89:0.00:1.00:1.00:0.00:60:36.8:0:0:31:120:21:NM_001005388.2(NFASC) c.1136-241C>T,NM_001005388.2(NFASC) c.1136-241C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 1 204942548 . G . . NT END=204943306;NT GT ./. 1 204943121 rs2802807 C T 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.08486,T/0.9151;Gene=NFASC/NM_001005389.1/0;CC=c.1280-186C>T;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.1262-186C>T;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.1280-186C>T;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.1313-186C>T;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.1313-186C>T;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.1313-186C>T;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:T:16:16:0:0:16:415:48.91:48.91:0.00:1.00:1.00:0.00:60:45.6:0:0:30:121:15:NM_001005388.2(NFASC) c.1280-186C>T,NM_001005388.2(NFASC) c.1280-186C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 1 204943285 rs2595945 A T 256 nt VT=SNV;PN=G;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.08486,T/0.9151;Gene=NFASC/NM_001005389.1/0;CC=c.1280-22A>T;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.1262-22A>T;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.1280-22A>T;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.1313-22A>T;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.1313-22A>T;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.1313-22A>T;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:73:63:0:0:73:2218:256.49:178.65:77.84:1.00:1.00:1.00:60:37.9:0:0:42:106:22:NM_001005388.2(NFASC) c.1280-22A>T,NM_001005388.2(NFASC) c.1280-22A>T:0.94,0.94:0.914655,0.914655 1 204943419 . G . . NT END=204943784;NT GT ./. 1 204943952 . G . . NT END=204944398;NT GT ./. 1 204943992 rs2794861 A G 242 nt VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.07208,G/0.9279;Gene=NFASC/NM_001005389.1/0;CC=c.1558+41A>G;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.1540+41A>G;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.1558+41A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.1591+41A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.1591+41A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.1591+41A>G;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:A,G:66:36:0:0:1,65:11,2124:0.00,241.51:0.00,76.05:0.00,165.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:164.0,37.5:0,0:0,0:110,103:12,45:0,24:NM_001005388.2(NFASC) c.1558+41A>G,NM_001005388.2(NFASC) c.1558+41A>G:0.9,0.9:0.926649,0.926649 1 204944547 . G . . NT END=204945798;NT GT ./. 1 204945618 rs12124296 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7867,A/0.2133;Gene=NFASC/NM_001005389.1/0;CC=c.1707-181G>A;VC=Intron;Gene=NFASC/NM_001160333.1/0;CC=c.1689-181G>A;VC=Intron;Gene=NFASC/NM_001005388.2/1;CC=c.1707-181G>A;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.1740-181G>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.1740-181G>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.1740-181G>A;VC=Intron;DM=NFASC/I-set;DM=NFASC/I-set;DM=NFASC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:64.2:0:0:69:80:22:NM_001005388.2(NFASC) c.1707-181G>A,NM_001005388.2(NFASC) c.1707-181G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 1 204946275 . G . . NT END=204946808;NT GT ./. 1 204946854 . G . . NT END=204948095;NT GT ./. 1 204948198 . G . . NT END=204948489;NT GT ./. 1 204948688 . G . . NT END=204949497;NT GT ./. 1 204949569 . G . . NT END=204950925;NT GT ./. 1 204949767 rs2278798 T C 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.642,C/0.358;Gene=NFASC/NM_001005388.2/1;CC=c.2247+199T>C;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2235+199T>C;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2235+199T>C;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2280+199T>C;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:295:34.25:0.00:34.25:1.00:0.00:1.00:60:38.8:0:0:105:45:29:NM_001005388.2(NFASC) c.2247+199T>C,NM_001005388.2(NFASC) c.2247+199T>C:0.35,0.35:NOT_FOUND,NOT_FOUND 1 204950709 rs2841631 G C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NFASC/NM_001005388.2/1;CC=c.2248-217G>C;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2236-217G>C;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2236-217G>C;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2281-217G>C;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:8:0:0:8:229:26.64:26.64:0.00:1.00:1.00:0.00:60:36.4:0:0:53:97:35:NM_001005388.2(NFASC) c.2248-217G>C,NM_001005388.2(NFASC) c.2248-217G>C:1,1:NOT_FOUND,NOT_FOUND 1 204951149 . G . . NT END=204953154;NT GT ./. 1 204951209 rs2278796 C T 98 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7847,T/0.2153;Gene=NFASC/NM_001005388.2/1;CC=c.2470+61C>T;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2458+61C>T;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2458+61C>T;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2503+61C>T;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:7:0:0:27:854:98.22:13.52:84.70:1.00:1.00:1.00:60:34.4:0:0:69:81:37:NM_001005388.2(NFASC) c.2470+61C>T,NM_001005388.2(NFASC) c.2470+61C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 1 204953271 . G . . NT END=204955037;NT GT ./. 1 204954993 rs2278795 A G 175 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.6258,G/0.3742;Gene=NFASC/NM_001005388.2/1;CC=c.2471-1553A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2575-45A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2575-45A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2620-45A>G;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:G:52:48:0:0:52:1508:175.28:136.52:38.76:1.00:1.00:1.00:60:32.1:0:0:37:108:25:NM_001005388.2(NFASC) c.2471-1553A>G,NM_001005388.2(NFASC) c.2471-1553A>G:0.36,0.36:0.427934,0.427934 1 204955243 . G . . NT END=204956545;NT GT ./. 1 204955319 rs11240324 G A 106 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7532,A/0.2468;Gene=NFASC/NM_001005388.2/1;CC=c.2471-1227G>A;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2779+77G>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2779+77G>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2824+77G>A;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:3:0:0:29:922:105.95:5.87:100.09:1.00:1.00:1.00:60:74.6:0:0:115:36:29:NM_001005388.2(NFASC) c.2471-1227G>A,NM_001005388.2(NFASC) c.2471-1227G>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 204955329 rs11240325 A G 91 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7528,G/0.2472;Gene=NFASC/NM_001005388.2/1;CC=c.2471-1217A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2779+87A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2779+87A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2824+87A>G;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:1:0:0:25:787:90.52:1.99:88.53:1.00:1.00:1.00:60:82.8:0:0:98:53:34:NM_001005388.2(NFASC) c.2471-1217A>G,NM_001005388.2(NFASC) c.2471-1217A>G:0.24,0.24:NOT_FOUND,NOT_FOUND 1 204955416 rs11240326 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7534,A/0.2466;Gene=NFASC/NM_001005388.2/1;CC=c.2471-1130G>A;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2779+174G>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2779+174G>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2824+174G>A;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:297:34.46:0.00:34.46:1.00:0.00:1.00:60:66.9:0:0:105:34:33:NM_001005388.2(NFASC) c.2471-1130G>A,NM_001005388.2(NFASC) c.2471-1130G>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 204956325 rs2290138 G C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.756,C/0.244;Gene=NFASC/NM_001005388.2/1;CC=c.2471-221G>C;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.2780-221G>C;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.2780-221G>C;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.2825-221G>C;VC=Intron;DM=NFASC/fn3;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:276:31.85:31.85:0.00:1.00:1.00:0.00:60:38.3:0:0:63:88:28:NM_001005388.2(NFASC) c.2471-221G>C,NM_001005388.2(NFASC) c.2471-221G>C:0.24,0.24:NOT_FOUND,NOT_FOUND 1 204956669 . G . . NT END=204957760;NT GT ./. 1 204957935 . G . . NT END=204960419;NT GT ./. 1 204960435 . G . . NT END=204966297;NT GT ./. 1 204964443 rs67614971 AGTGT A 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=AGTGT/0.1809,A/0.8191;DB;DBA=NA;PAF=AGTGT/0.1809,A/0.8191;NP=119;PC=0.005;Gene=NFASC/NM_001005388.2/1;CC=c.2783-1820_2783-1817delGTGT;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3091+4044_3091+4047delGTGT;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3076+6544_3076+6547delGTGT;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3136+4044_3136+4047delGTGT;VC=Intron;DM=NFASC/fn3;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:AGTGT,A:5:3:0:4:2,3:61,91:0.00,9.07:0.00,4.83:0.00,4.23:0.00,0.78:0.00,0.94:0.00,0.94:60,70:23.5,0.0:0,0:0,0:74,50:58,61:45,19:-,NM_001005388.2(NFASC) c.2783-1854_2783-1851delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 204966170 rs16854920 T C 331 nt VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.7157,C/0.2843;PC=0.001;Gene=NFASC/NM_001005388.2/1;CC=c.2783-128T>C;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3091+5736T>C;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3076+8236T>C;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3136+5736T>C;VC=Intron;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:92:85:0:0:91,1:2885,5:331.32,0.03:257.61,0.03:73.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,26.0:0,0:0,0:46,26:103,125:23,0:NM_001005388.2(NFASC) c.2783-128T>C,NM_001005388.2(NFASC) c.2783-128T>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 204966444 rs577386291 G A 196 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.9992,A/0.0007987;NP=2;PC=0.700;Gene=NFASC/NM_001005388.2/1;CC=c.2929G>A;ProtCh=p.V977I;VC=Missense;Gene=NFASC/NM_001160332.1/0;CC=c.3091+6010G>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3076+8510G>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3136+6010G>A;VC=Intron;DM=NFASC/fn3;DM=NFASC/Bravo_FIGEY;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:125:81:0:1:63,2,60:2028,18,1819:195.88,-0.18,0.00:91.56,-0.10,0.00:104.32,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.7,180.5,9.0:0,0,0:0,0,0:88,103,89:60,31,61:35,35,39:NM_001005388.2(NFASC) c.2929G>A (p.Val977Ile),-:NOT_FOUND,-:NOT_FOUND,- 1 204966535 . G . . NT END=204970297;NT GT ./. 1 204966690 rs2794858 G A 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.09884,A/0.9012;Gene=NFASC/NM_001005388.2/1;CC=c.3019+156G>A;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3091+6256G>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3076+8756G>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3136+6256G>A;VC=Intron;DM=NFASC/Bravo_FIGEY;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:560:64.09:0.00:64.09:1.00:0.00:1.00:60:58.9:0:0:99:51:24:NM_001005388.2(NFASC) c.3019+156G>A,NM_001005388.2(NFASC) c.3019+156G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 204966749 rs2595944 A G 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1392,G/0.8608;Gene=NFASC/NM_001005388.2/1;CC=c.3019+215A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3091+6315A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3076+8815A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3136+6315A>G;VC=Intron;DM=NFASC/Bravo_FIGEY;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:311:36.24:0.00:36.24:1.00:0.00:1.00:60:73.0:0:0:132:19:17:NM_001005388.2(NFASC) c.3019+215A>G,NM_001005388.2(NFASC) c.3019+215A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 204970148 rs10716288 TC T 31 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TC/0.7891,T/0.2109;NP=317;Gene=NFASC/NM_001005388.2/1;CC=c.3020-146delC;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-8533delC;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-8533delC;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-8533delC;VC=Intron;DM=NFASC/Bravo_FIGEY;DM=NFASC/fn3;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:9:9:272:31.49:31.49:0.00:1.00:1.00:0.00:60:46.3:0:0:34:117:19:NM_001005388.2(NFASC) c.3020-149delC,NM_001005388.2(NFASC) c.3020-149delC:0.2,0.2:NOT_FOUND,NOT_FOUND 1 204970243 rs4950976 A G 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7742,G/0.2258;PC=0.976;Gene=NFASC/NM_001005388.2/1;CC=c.3020-55A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-8442A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-8442A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-8442A>G;VC=Intron;DM=NFASC/Bravo_FIGEY;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:19:0:0:21:694:79.38:55.72:23.66:1.00:1.00:1.00:60:64.8:0:0:20:117:16:NM_001005388.2(NFASC) c.3020-55A>G,NM_001005388.2(NFASC) c.3020-55A>G:0.21,0.21:NOT_FOUND,NOT_FOUND 1 204970302 rs4951151 T C 138 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7694,C/0.2306;PC=0.016;Gene=NFASC/NM_001005388.2/1;CC=c.3024T>C;ProtCh=p.P1008=;VC=Silent;Gene=NFASC/NM_001160332.1/0;CC=c.3092-8383T>C;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-8383T>C;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-8383T>C;VC=Intron;DM=NFASC/Bravo_FIGEY;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:40:31:0:0:40:1191:138.08:83.02:55.06:1.00:1.00:1.00:60:54.5:0:0:57:84:29:NM_001005388.2(NFASC) c.3024T>C (p.(=)),NM_001005388.2(NFASC) c.3024T>C (p.(=)):0.21,0.21:0.226204,0.226204 1 204970415 . G . . NT END=204971723;NT GT ./. 1 204970495 rs4951152 C A 53 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7835,A/0.2165;Gene=NFASC/NM_001005388.2/1;CC=c.3136+81C>A;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-8190C>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-8190C>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-8190C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:1:0:0:16:458:53.32:1.94:51.38:1.00:1.00:1.00:60:32.9:0:0:94:57:26:NM_001005388.2(NFASC) c.3136+81C>A,NM_001005388.2(NFASC) c.3136+81C>A:0.21,0.21:NOT_FOUND,NOT_FOUND 1 204971452 rs6661266 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.765,G/0.235;Gene=NFASC/NM_001005388.2/1;CC=c.3137-272A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-7233A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-7233A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-7233A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,G:4:4:0:0:1,3:10,93:0.00,9.80:0.00,9.80:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:150.0,114.0:0,0:0,0:44,22:107,129:0,12:-,NM_001005388.2(NFASC) c.3137-272A>G:-,0.22:-,NOT_FOUND 1 204971485 rs6697344 C A 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7704,A/0.2296;Gene=NFASC/NM_001005388.2/1;CC=c.3137-239C>A;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-7200C>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-7200C>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-7200C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:387:44.42:44.42:0.00:1.00:1.00:0.00:60:86.5:0:0:16:134:12:NM_001005388.2(NFASC) c.3137-239C>A,NM_001005388.2(NFASC) c.3137-239C>A:0.22,0.22:NOT_FOUND,NOT_FOUND 1 204971553 rs6661381 A G 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7622,G/0.2378;PC=0.001;Gene=NFASC/NM_001005388.2/1;CC=c.3137-171A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-7132A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-7132A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-7132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:G:28:28:0:0:28:776:90.63:90.63:0.00:1.00:1.00:0.00:60:57.8:0:0:57:92:19:NM_001005388.2(NFASC) c.3137-171A>G,NM_001005388.2(NFASC) c.3137-171A>G:0.22,0.22:NOT_FOUND,NOT_FOUND 1 204971877 . G . . NT END=204978684;NT GT ./. 1 204978533 rs1530745 A G 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.3524,G/0.6476,T/.;Gene=NFASC/NM_001005388.2/1;CC=c.3290-152A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-152A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-152A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-152A>G;VC=Intron;DM=NFASC/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G,T:21:21:0:0:20,1:496,11:58.60,0.42:58.60,0.42:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:60.5,86.0:0,0:0,0:32,35:118,115:25,0:NM_001005388.2(NFASC) c.3290-152A>G,NM_001005388.2(NFASC) c.3290-152A>G:0.62,0.62:0.724974,0.724974 1 204978643 rs1530744 C A 230 nt VT=SNV;PN=C;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.7716,A/0.2284;Gene=NFASC/NM_001005388.2/1;CC=c.3290-42C>A;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3092-42C>A;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3077-42C>A;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3137-42C>A;VC=Intron;DM=NFASC/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:A:64:63:0:0:64:1992:229.58:199.23:30.35:1.00:1.00:1.00:60:47.6:0:0:51:90:29:NM_001005388.2(NFASC) c.3290-42C>A,NM_001005388.2(NFASC) c.3290-42C>A:0.27,0.27:0.34684,0.34684 1 204978817 . G . . NT END=204981924;NT GT ./. 1 204979071 rs1530743 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6983,G/0.3017;Gene=NFASC/NM_001005388.2/1;CC=c.3421+255A>G;VC=Intron;Gene=NFASC/NM_001160332.1/0;CC=c.3223+255A>G;VC=Intron;Gene=NFASC/NM_015090.3/0;CC=c.3208+255A>G;VC=Intron;Gene=NFASC/NM_001160331.1/0;CC=c.3268+255A>G;VC=Intron;DM=NFASC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:47.2:0:0:123:27:15:NM_001005388.2(NFASC) c.3421+255A>G,NM_001005388.2(NFASC) c.3421+255A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 1 204981995 . G . . NT END=204985435;NT GT ./. 1 204985668 . C . . NT END=205022313;NT GT ./. 1 205022384 . G . . NT END=205027048;NT GT ./. 1 205027194 . G . . NT END=205027308;NT GT ./. 1 205027485 . G . . NT END=205027695;NT GT ./. 1 205027792 . G . . NT END=205028211;NT GT ./. 1 205028422 . G . . NT END=205028710;NT GT ./. 1 205028581 rs2305278 C G 97 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.769,G/0.231;Gene=CNTN2/NM_005076.3/1;CC=c.698-130C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:17:0:0:27:839:96.74:57.67:39.07:1.00:1.00:1.00:60:39.5:0:0:67:84:35:NM_005076.3(CNTN2) c.698-130C>G,NM_005076.3(CNTN2) c.698-130C>G:0.23,0.23:NOT_FOUND,NOT_FOUND 1 205028811 . G . . NT END=205030372;NT GT ./. 1 205030549 . G . . NT END=205030992;NT GT ./. 1 205030862 rs41264869 C T 68 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7688,T/0.2312;Gene=CNTN2/NM_005076.3/1;CC=c.974-131C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:16:0:0:20:590:68.40:46.64:21.76:1.00:1.00:1.00:60:43.9:0:0:73:77:25:NM_005076.3(CNTN2) c.974-131C>T,NM_005076.3(CNTN2) c.974-131C>T:0.23,0.23:NOT_FOUND,NOT_FOUND 1 205031116 rs2229866 C T 429 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.4489,T/0.5511;PC=1.000;Gene=CNTN2/NM_005076.3/1;CC=c.1097C>T;ProtCh=p.P366L;VC=Missense;DM=CNTN2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:116:61:0:0:116:3738:428.94:144.08:284.86:1.00:1.00:1.00:60:38.2:0:0:89:57:30:NM_005076.3(CNTN2) c.1097C>T (p.Pro366Leu),NM_005076.3(CNTN2) c.1097C>T (p.Pro366Leu):0.5,0.5:0.341052,0.341052 1 205031130 . G . . NT END=205031567;NT GT ./. 1 205031449 rs7545698 A G 149 nt VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=3434;Gene=CNTN2/NM_005076.3/1;CC=c.1111-119A>G;VC=Intron;DM=CNTN2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:G:40:35:0:0:40:1298:148.81:117.57:31.24:1.00:1.00:1.00:60:44.0:0:0:49:102:35:NM_005076.3(CNTN2) c.1111-119A>G,NM_005076.3(CNTN2) c.1111-119A>G:1,1:NOT_FOUND,NOT_FOUND 1 205031698 . G . . NT END=205033449;NT GT ./. 1 205031744 rs2242001 G A 292 nt VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.768,A/0.232;PC=0.001;Gene=CNTN2/NM_005076.3/1;CC=c.1240+47G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:43:0:0:79:2540:291.62:110.34:181.28:1.00:1.00:1.00:60:62.4:0:0:106:41:20:NM_005076.3(CNTN2) c.1240+47G>A,NM_005076.3(CNTN2) c.1240+47G>A:0.23,0.23:0.152622,0.152622 1 205031769 rs2242000 G A 218 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.768,A/0.232;PC=0.006;Gene=CNTN2/NM_005076.3/1;CC=c.1240+72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:25:0:0:60:1900:218.50:65.42:153.08:1.00:1.00:1.00:60:71.7:0:0:120:22:18:NM_005076.3(CNTN2) c.1240+72G>A,NM_005076.3(CNTN2) c.1240+72G>A:0.23,0.23:NOT_FOUND,NOT_FOUND 1 205033254 rs11329962 AG A 30 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AG/0.4028,A/0.5972;NP=457;Gene=CNTN2/NM_005076.3/1;CC=c.1241-189delG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:9:9:259:30.18:30.18:0.00:1.00:1.00:0.00:60:52.2:0:0:63:86:13:NM_005076.3(CNTN2) c.1241-195delG,NM_005076.3(CNTN2) c.1241-195delG:0.54,0.54:NOT_FOUND,NOT_FOUND 1 205033283 rs1470637 G A 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3938,A/0.6062;Gene=CNTN2/NM_005076.3/1;CC=c.1241-167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:450:52.10:52.10:0.00:1.00:1.00:0.00:60:58.7:0:0:49:101:42:NM_005076.3(CNTN2) c.1241-167G>A,NM_005076.3(CNTN2) c.1241-167G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 205033374 rs2305277 T C 128 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4429,C/0.5571;Gene=CNTN2/NM_005076.3/1;CC=c.1241-76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:35:0:0:36:1109:127.98:112.17:15.81:1.00:1.00:1.00:60:45.4:0:0:34:115:22:NM_005076.3(CNTN2) c.1241-76T>C,NM_005076.3(CNTN2) c.1241-76T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 205033601 . G . . NT END=205033750;NT GT ./. 1 205033879 . G . . NT END=205034214;NT GT ./. 1 205034391 . G . . NT END=205034916;NT GT ./. 1 205034488 rs4460698 A G 114 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.5553,G/0.4447;Gene=CNTN2/NM_005076.3/1;CC=c.1695+98A>G;VC=Intron;DM=CNTN2/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C,G:32:5:0:0:1,31:6,1000:0.10,114.36:0.00,14.80:0.10,99.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.0,35.3:0,0:0,0:17,123:134,28:0,13:NM_005076.3(CNTN2) c.1695+98A>G,NM_005076.3(CNTN2) c.1695+98A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 1 205034723 rs11588412 C T 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5114,T/0.4886;Gene=CNTN2/NM_005076.3/1;CC=c.1696-194C>T;VC=Intron;DM=CNTN2/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:26:0:0:30:868:101.02:86.82:14.21:1.00:1.00:1.00:60:43.9:0:0:48:101:28:NM_005076.3(CNTN2) c.1696-194C>T,NM_005076.3(CNTN2) c.1696-194C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 1 205035038 . G . . NT END=205035568;NT GT ./. 1 205035728 . G . . NT END=205036228;NT GT ./. 1 205036379 . G . . NT END=205038618;NT GT ./. 1 205038690 . G . . NT END=205038954;NT GT ./. 1 205038731 rs2305275 C T 230 nt VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CNTN2/NM_005076.3/1;CC=c.2196+42C>T;VC=Intron;DM=CNTN2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:T:61:34:0:0:61:2012:230.23:93.28:136.95:1.00:1.00:1.00:60:43.7:0:0:114:37:25:NM_005076.3(CNTN2) c.2196+42C>T,NM_005076.3(CNTN2) c.2196+42C>T:0.6,0.6:0.644549,0.644549 1 205039190 . G . . NT END=205039553;NT GT ./. 1 205039295 rs56283998 A C 108 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.7478,C/0.2522;PC=0.001;Gene=CNTN2/NM_005076.3/1;CC=c.2431+106A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A,C:33:1:0:0:1,32:15,949:0.00,108.30:0.00,3.96:0.00,104.34:0.00,1.00:0.00,0.98:0.00,1.00:60,60:0.0,43.9:0,0:0,0:3,102:148,48:0,32:NM_005076.3(CNTN2) c.2431+106A>C,NM_005076.3(CNTN2) c.2431+106A>C:0.25,0.25:NOT_FOUND,NOT_FOUND 1 205039667 . G . . NT END=205041074;NT GT ./. 1 205040726 rs3753855 A G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1941,G/0.8059;Gene=CNTN2/NM_005076.3/1;CC=c.2545-349A>G;VC=Intron;DM=CNTN2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:34.2:0:0:64:87:21:NM_005076.3(CNTN2) c.2545-349A>G,NM_005076.3(CNTN2) c.2545-349A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 205040835 rs3820338 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1957,G/0.8043;Gene=CNTN2/NM_005076.3/1;CC=c.2545-240A>G;VC=Intron;DM=CNTN2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:127:15.01:15.01:0.00:1.00:1.00:0.00:60:47.8:0:0:32:119:30:NM_005076.3(CNTN2) c.2545-240A>G,NM_005076.3(CNTN2) c.2545-240A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 205041262 . G . . NT END=205041610;NT GT ./. 1 205041487 rs375383625 A ATGGG 62 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1971,ATGGG/0.8029;DB;DBA=NA;PAF=NA;NP=16;Gene=CNTN2/NM_005076.3/1;CC=c.2732-122_2732-121insGGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,ATGGG:20:18:18:0:2,18:68,559:0.00,61.66:0.00,54.49:0.00,7.16:0.00,1.00:0.00,1.00:0.00,0.99:60,60:116.0,29.9:2,0:0,0:83,60:68,90:26,26:-,NM_005076.3(CNTN2) c.2732-124_2732-123insTGGG:-,0.79:-,NOT_FOUND 1 205041542 rs3903399 T C 128 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.7306,C/0.2694;PC=0.001;Gene=CNTN2/NM_005076.3/1;CC=c.2732-69T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:32:0:0:34:1116:127.77:109.77:18.00:1.00:1.00:1.00:60:47.6:0:0:51:99:37:NM_005076.3(CNTN2) c.2732-69T>C,NM_005076.3(CNTN2) c.2732-69T>C:0.27,0.27:NOT_FOUND,NOT_FOUND 1 205041724 . G . . NT END=205042195;NT GT ./. 1 205042115 rs56338794 C T 165 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9555,T/0.04453;Gene=CNTN2/NM_005076.3/1;CC=c.2845-81C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:42:0:0:44:1438:164.73:143.26:21.47:1.00:1.00:1.00:60:41.2:0:0:45:102:30:NM_005076.3(CNTN2) c.2845-81C>T,NM_005076.3(CNTN2) c.2845-81C>T:0.06,0.06:NOT_FOUND,NOT_FOUND 1 205042365 . G . . NT END=205042783;NT GT ./. 1 205042583 rs1002926 C T 68 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.762,T/0.238;Gene=CNTN2/NM_005076.3/1;CC=c.3014-201C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:10:0:0:21:579:67.73:30.17:37.57:1.00:1.00:1.00:60:48.7:0:0:88:63:32:NM_005076.3(CNTN2) c.3014-201C>T,NM_005076.3(CNTN2) c.3014-201C>T:0.24,0.24:NOT_FOUND,NOT_FOUND 1 205042894 . T . . NT END=205052680;NT GT ./. 1 205042939 rs17416088 C T 126 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8349,T/0.1651;PC=0.006;Gene=CNTN2/NM_005076.3/1;CC=c.*46C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:6:0:0:33:1107:126.44:17.00:109.44:1.00:1.00:1.00:60:38.4:0:0:90:61:30:NM_005076.3(CNTN2) c.*46C>T,NM_005076.3(CNTN2) c.*46C>T:0.14,0.14:0.187759,0.187759 1 205052939 rs4950979 G A 415 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.2013,A/0.7987;PC=0.001;Gene=TMEM81/NM_203376.1/1;CC=c.510C>T;ProtCh=p.L170=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:112:72:0:0:112:3616:414.88:210.81:204.07:1.00:1.00:1.00:60:39.2:0:0:68:77:37:NM_203376.1(TMEM81) c.510C>T (p.(=)),NM_203376.1(TMEM81) c.510C>T (p.(=)):0.79,0.79:0.757343,0.757343 1 205053219 rs4951168 C T 515 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.1827,T/0.8173;PC=0.074;Gene=TMEM81/NM_203376.1/1;CC=c.230G>A;ProtCh=p.R77Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:137:86:0:0:1,136:11,4510:0.09,515.30:0.00,270.02:0.09,245.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:202.0,39.9:0,0:0,0:96,75:28,72:0,38:NM_203376.1(TMEM81) c.230G>A (p.Arg77Gln),NM_203376.1(TMEM81) c.230G>A (p.Arg77Gln):0.81,0.81:0.775104,0.775104 1 205053449 . G . . NT END=205057914;NT GT ./. 1 205053759 rs61060413 A ACT 20 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1498,ACT/0.8502;DB;DBA=NA;PAF=A/0.1498,AACCT/.,ACT/0.8502;NP=5;PC=0.418;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:ACT:6:0:6:0:6:168:19.63:0.00:19.63:1.00:0.00:1.00:60:74.0:0:0:80:69:43:NM_203376.1(TMEM81) c.-140-u172_-140-u171insAG,NM_203376.1(TMEM81) c.-140-u172_-140-u171insAG:0.84,0.84:NOT_FOUND,NOT_FOUND 1 205057944 . C . . NT END=205064000;NT GT ./. 1 205064193 . C . . NT END=205065809;NT GT ./. 1 205066040 . C . . NT END=205066453;NT GT ./. 1 205066524 . C . . NT END=205068116;NT GT ./. 1 205066611 rs151016156 C A 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.9956,A/0.004393;NP=23;Gene=RBBP5/NM_001193272.1/0;CC=c.1097-88G>T;VC=Intron;Gene=RBBP5/NM_001193273.1/1;CC=c.716-88G>T;VC=Intron;Gene=RBBP5/NM_005057.3/0;CC=c.1097-88G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:34:4:0:0:17,17:519,466:49.83,0.00:7.73,0.00:42.10,0.00:1.00,0.00:0.51,0.00:1.00,0.00:60,60:43.8,6.1:0,0:0,0:100,72:48,79:26,23:NM_005057.3(RBBP5) c.1097-88G>T,-:0.01,-:NOT_FOUND,- 1 205067972 rs373788683 CA C 8 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;PC=0.010;Gene=RBBP5/NM_001193272.1/0;CC=c.1096+144delT;VC=Intron;Gene=RBBP5/NM_001193273.1/1;CC=c.715+144delT;VC=Intron;Gene=RBBP5/NM_005057.3/0;CC=c.1096+144delT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CA,I,C:12:12:1:3:8,1,3:234,30,96:0.00,2.10,8.23:0.00,2.10,8.23:0.00,0.00,0.00:0.00,0.00,0.59:0.00,0.00,0.59:0.00,0.00,0.00:60,60,60:17.9,160.0,10.3:0,0,0:0,0,0:88,10,76:62,140,74:24,0,40:-,NM_005057.3(RBBP5) c.1096+144delT:-,NOT_FOUND:-,NOT_FOUND 1 205068235 . C . . NT END=205068868;NT GT ./. 1 205068941 . C . . NT END=205069038;NT GT ./. 1 205069193 . C . . NT END=205069279;NT GT ./. 1 205069400 . C . . NT END=205070727;NT GT ./. 1 205070573 rs11240358 G A 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4848,A/0.5152;Gene=RBBP5/NM_001193272.1/0;CC=c.632+155C>T;VC=Intron;Gene=RBBP5/NM_001193273.1/1;CC=c.251+155C>T;VC=Intron;Gene=RBBP5/NM_005057.3/0;CC=c.632+155C>T;VC=Intron;DM=RBBP5/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:226:25.94:25.94:0.00:1.00:1.00:0.00:60:41.7:0:0:75:75:18:NM_005057.3(RBBP5) c.632+155C>T,NM_005057.3(RBBP5) c.632+155C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 1 205070838 . C . . NT END=205072984;NT GT ./. 1 205071022 rs34906028 CT C 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.004;Gene=RBBP5/NM_001193272.1/0;CC=c.523-186delA;VC=Intron;Gene=RBBP5/NM_001193273.1/1;CC=c.142-186delA;VC=Intron;Gene=RBBP5/NM_005057.3/0;CC=c.523-186delA;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CT,C:6:0:0:4:3,3:71,121:0.00,8.50:0.00,0.00:0.00,8.50:0.00,0.69:0.00,0.00:0.00,0.69:60,60:29.7,10.0:0,1:0,0:129,84:19,66:10,28:-,NM_005057.3(RBBP5) c.523-186delA:-,NOT_FOUND:-,NOT_FOUND 1 205073148 . C . . NT END=205074155;NT GT ./. 1 205074018 rs6683762 T C 48 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1807,C/0.8193;Gene=RBBP5/NM_001193272.1/0;CC=c.359+138A>G;VC=Intron;Gene=RBBP5/NM_001193273.1/1;CC=c.-23+138A>G;VC=Intron;Gene=RBBP5/NM_005057.3/0;CC=c.359+138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:418:48.00:48.00:0.00:1.00:1.00:0.00:60:37.1:0:0:45:106:20:NM_005057.3(RBBP5) c.359+138A>G,NM_005057.3(RBBP5) c.359+138A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 205074297 . C . . NT END=205083916;NT GT ./. 1 205084090 . C . . NT END=205084985;NT GT ./. 1 205085144 . g . . NT END=205090982;NT GT ./. 1 205091002 . C . . NT END=205116685;NT GT ./. 1 205116874 . C . . NT END=205117332;NT GT ./. 1 205117468 . C . . NT END=205119807;NT GT ./. 1 205119923 . C . . NT END=205126400;NT GT ./. 1 205126515 . C . . NT END=205128674;NT GT ./. 1 205128808 . C . . NT END=205129241;NT GT ./. 1 205129319 rs1062715 G A 270 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.6286,A/0.3714;PC=1.000;Gene=DSTYK/NM_015375.2/1;CC=c.2028C>T;ProtCh=p.F676=;VC=Silent;Gene=DSTYK/NM_199462.2/0;CC=c.2028C>T;ProtCh=p.F676=;VC=Silent;DM=DSTYK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:73:52:0:0:73:2356:270.36:140.79:129.57:1.00:1.00:1.00:60:38.9:0:0:73:71:42:NM_015375.2(DSTYK) c.2028C>T (p.(=)),NM_015375.2(DSTYK) c.2028C>T (p.(=)):0.33,0.33:0.285637,0.285637 1 205129399 . C . . NT END=205130385;NT GT ./. 1 205129466 rs368449201 CT C 10 idl,rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=8;PC=0.982;Gene=DSTYK/NM_015375.2/1;CC=c.1949-69delA;VC=Intron;Gene=DSTYK/NM_199462.2/0;CC=c.1949-69delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:CT,I,C:32:9:1:6:27,1,4:861,27,189:0.00,1.30,9.93:0.00,-0.06,2.68:0.00,1.37,7.25:0.00,0.00,0.62:0.00,0.00,0.62:0.00,0.00,0.94:60,60,60:11.4,0.0,16.5:0,0,2:0,0,0:114,34,115:26,117,35:23,0,14:-,NM_015375.2(DSTYK) c.1949-69delA:-,NOT_FOUND:-,NOT_FOUND 1 205130413 rs3851294 A G 257 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.03894,G/0.9611;PC=1.000;Gene=DSTYK/NM_015375.2/1;CC=c.1921T>C;ProtCh=p.C641R;VC=Missense;Gene=DSTYK/NM_199462.2/0;CC=c.1921T>C;ProtCh=p.C641R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:72:56:0:0:72:2232:257.43:147.51:109.92:1.00:1.00:1.00:60:36.4:0:0:60:90:31:NM_015375.2(DSTYK) c.1921T>C (p.Cys641Arg),NM_015375.2(DSTYK) c.1921T>C (p.Cys641Arg):0.95,0.95:0.930186,0.930186 1 205130516 . C . . NT END=205131163;NT GT ./. 1 205131059 rs74139123 G GAC 92 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.07169,GAC/0.9283,GACAC/.;DB;DBA=NA;PAF=G/0.07169,GAC/0.9283;DB;DBA=NA;PAF=NA;NP=2120;Gene=DSTYK/NM_015375.2/1;CC=c.1818+103_1818+104dupGT;VC=Intron;Gene=DSTYK/NM_199462.2/0;CC=c.1818+103_1818+104dupGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:G,GAC:27:27:26:0:1,26:32,815:0.00,92.04:0.00,88.18:0.00,3.86:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,10.0:0,0:0,0:24,37:126,113:0,25:NM_015375.2(DSTYK) c.1818+104_1818+105insGT,NM_015375.2(DSTYK) c.1818+104_1818+105insGT:0.89,0.89:NOT_FOUND,NOT_FOUND 1 205131341 . C . . NT END=205132050;NT GT ./. 1 205132135 . C . . NT END=205132850;NT GT ./. 1 205133084 . C . . NT END=205138290;NT GT ./. 1 205133169 rs61822658 T C 93 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.9555,C/0.04453;Gene=DSTYK/NM_015375.2/1;CC=c.1325-86A>G;VC=Intron;Gene=DSTYK/NM_199462.2/0;CC=c.1325-86A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:1:0:0:27:800:92.85:1.84:91.01:1.00:1.00:1.00:60:36.8:0:0:113:36:28:NM_015375.2(DSTYK) c.1325-86A>G,NM_015375.2(DSTYK) c.1325-86A>G:0.06,0.06:NOT_FOUND,NOT_FOUND 1 205138321 rs35845538 G C 75 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.9848,C/0.01518;PC=1.000;Gene=DSTYK/NM_015375.2/1;CC=c.1294C>G;ProtCh=p.L432V;VC=Missense;Gene=DSTYK/NM_199462.2/0;CC=c.1294C>G;ProtCh=p.L432V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:61:49:0:0:1,24,36:10,810,1209:-0.10,74.91,0.00:-0.01,50.30,0.00:-0.09,24.61,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:146.0,38.3,10.8:0,0,0:0,0,0:29,53,65:112,86,85:0,39,31:NM_015375.2(DSTYK) c.1294C>G (p.Leu432Val),-:0.03,-:0.038059,- 1 205138961 . C . . NT END=205156545;NT GT ./. 1 205156935 . C . . NT END=205180398;NT GT ./. 1 205157108 rs6593929 A G 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1855,G/0.8145;Gene=DSTYK/NM_015375.2/1;CC=c.266-174T>C;VC=Intron;Gene=DSTYK/NM_199462.2/0;CC=c.266-174T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:345:40.60:0.00:40.60:1.00:0.00:1.00:60:64.3:0:0:127:24:17:NM_015375.2(DSTYK) c.266-174T>C,NM_015375.2(DSTYK) c.266-174T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 205180664 . C . . NT END=205197692;NT GT ./. 1 205197900 . G . . NT END=205198058;NT GT ./. 1 205198257 . G . . NT END=205198744;NT GT ./. 1 205198281 . TTG T 13 idl,rn VT=DEL;SST=Single;DP=51;Gene=TMCC2/NM_014858.3/1;CC=c.207+426_207+427delGT;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.-28+69_-28+70delGT;VC=Intron;DM=TMCC2/Tmemb_cc2;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,TTG,I,T:45:30:2:12:1,36,2,6:13,1145,68,368:0.01,0.00,4.32,13.04:-0.14,0.00,2.20,2.83:0.15,0.00,2.12,10.21:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.97:60,60,60,60:26.0,17.4,6.0,35.5:0,0,0,6:0,0,0,0:8,114,67,87:142,35,83,62:0,15,16,14:-,NM_014858.3(TMCC2) c.207+383_207+384delTG:-,NOT_FOUND:-,NOT_FOUND 1 205198673 . CGG C 45 idl,rn VT=DEL;SST=Single;DP=38;PC=0.014;Gene=TMCC2/NM_014858.3/1;CC=c.207+786_207+787delGG;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.-28+429_-28+430delGG;VC=Intron;DM=TMCC2/Tmemb_cc2;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGG,G,C:31:37:0:23:15,1,15:524,27,684:0.00,1.43,44.63:0.00,-0.17,44.63:0.00,1.60,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.60:60,60,60:48.5,73.0,57.2:0,0,7:0,0,0:99,1,60:45,150,90:30,0,23:-,NM_014858.3(TMCC2) c.207+775_207+776delGG:-,NOT_FOUND:-,NOT_FOUND 1 205198685 . GGT G 13 nt VT=DEL;SST=Single;DP=54;PC=0.001;Gene=TMCC2/NM_014858.3/1;CC=c.207+788_207+789delTG;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.-28+431_-28+432delTG;VC=Intron;DM=TMCC2/Tmemb_cc2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:GGT,G:54:50:0:9:46,8:1308,193:0.00,13.31:0.00,13.83:0.00,-0.51:0.00,0.96:0.00,1.00:0.00,0.76:60,60:42.3,47.0:3,0:0,0:37,80:113,41:33,15:-,NM_014858.3(TMCC2) c.207+787_207+788delGT:-,NOT_FOUND:-,NOT_FOUND 1 205198690 . T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;PC=0.004;Gene=TMCC2/NM_014858.3/1;CC=c.207+791T>G;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.-28+434T>G;VC=Intron;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:G,T:47:45:0:0:8,39:120,848:6.74,0.00:2.01,0.00:4.73,0.00:0.96,0.00:1.00,0.00:0.60,0.00:60,60:70.0,30.8:3,8:0,0:62,56:73,95:22,43:NM_014858.3(TMCC2) c.207+791T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 205198693 . C G 8 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;PC=0.005;Gene=TMCC2/NM_014858.3/1;CC=c.207+794C>G;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.-28+437C>G;VC=Intron;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,G:45:43:0:0:36,9:881,131:0.00,7.77:0.00,2.32:0.00,5.45:0.00,0.99:0.00,1.00:0.00,0.53:60,60:35.8,55.1:7,4:0,0:45,93:105,29:34,17:-,NM_014858.3(TMCC2) c.207+794C>G:-,NOT_FOUND:-,NOT_FOUND 1 205198708 . A G 7 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;PC=0.986;Gene=TMCC2/NM_014858.3/1;CC=c.207+809A>G;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.-28+452A>G;VC=Intron;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C,G:60:54:0:1:48,1,11:1230,17,138:0.00,0.19,6.94:0.00,0.30,8.25:0.00,-0.11,-1.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:32.9,17.0,39.4:0,0,0:0,0,0:26,10,96:109,140,30:19,0,22:-,NM_014858.3(TMCC2) c.207+809A>G:-,NOT_FOUND:-,NOT_FOUND 1 205199200 rs10793727 A G 382 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.05371,G/0.9463;PC=1.000;Gene=TMCC2/NM_014858.3/1;CC=c.207+1301A>G;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.-28+944A>G;VC=Intron;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:101:57:0:0:100,1:3353,10:382.45,0.10:174.60,0.00:207.85,0.10:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,97.0:0,0:0,0:85,41:65,91:37,0:NM_014858.3(TMCC2) c.207+1301A>G,NM_014858.3(TMCC2) c.207+1301A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 205199298 . G . . NT END=205210632;NT GT ./. 1 205211173 . G . . NT END=205215630;NT GT ./. 1 205215820 . G . . NT END=205225328;NT GT ./. 1 205225545 . G . . NT END=205226324;NT GT ./. 1 205225893 rs61823978 C T 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9205,T/0.07947;Gene=TMCC2/NM_014858.3/1;CC=c.748-12185C>T;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.514-12185C>T;VC=Intron;Gene=TMCC2/NM_001297611.1/0;CC=c.72+10074C>T;VC=Intron;Gene=TMCC2/NM_001297613.1/0;CC=c.27+349C>T;VC=Intron;DM=TMCC2/Tmemb_cc2;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:121:14.01:10.03:3.98:1.00:1.00:1.00:60:82.5:0:0:54:97:41:NM_014858.3(TMCC2) c.748-12185C>T,NM_014858.3(TMCC2) c.748-12185C>T:0.09,0.09:NOT_FOUND,NOT_FOUND 1 205226495 . G . . NT END=205237018;NT GT ./. 1 205237188 . G . . NT END=205238077;NT GT ./. 1 205237375 . T C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;NP=2;Gene=TMCC2/NM_014858.3/1;CC=c.748-703T>C;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.514-703T>C;VC=Intron;Gene=TMCC2/NM_001297611.1/0;CC=c.73-703T>C;VC=Intron;Gene=TMCC2/NM_001297613.1/0;CC=c.28-703T>C;VC=Intron;DM=TMCC2/Tmemb_cc2;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:7,10:211,331:19.41,0.00:0.00,0.00:19.41,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:44.7,2.4:0,0:0,0:123,100:28,51:8,27:NM_014858.3(TMCC2) c.748-703T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 205239013 . G . . NT END=205240247;NT GT ./. 1 205239121 rs1768585 C G 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.3423,G/0.6577;Gene=TMCC2/NM_014858.3/1;CC=c.1682+109C>G;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.1448+109C>G;VC=Intron;Gene=TMCC2/NM_001297611.1/0;CC=c.1007+109C>G;VC=Intron;Gene=TMCC2/NM_001297613.1/0;CC=c.962+109C>G;VC=Intron;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:31:1:0:0:13,18:428,577:0.00,57.12:0.00,1.93:0.00,55.19:0.00,1.00:0.00,0.72:0.00,1.00:60,60:15.8,35.4:0,0:0,0:112,88:39,62:30,26:-,NM_014858.3(TMCC2) c.1682+109C>G:-,0.64:-,NOT_FOUND 1 205240384 . G . . NT END=205240923;NT GT ./. 1 205240913 rs9659978 A G 386 nt VT=SNV;PN=C;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=A/0.03834,G/0.9617;Gene=TMCC2/NM_014858.3/1;CC=c.1819-28A>G;VC=Intron;Gene=TMCC2/NM_001242925.1/0;CC=c.1585-28A>G;VC=Intron;Gene=TMCC2/NM_001297611.1/0;CC=c.1144-28A>G;VC=Intron;Gene=TMCC2/NM_001297613.1/0;CC=c.1099-28A>G;VC=Intron;DM=TMCC2/Tmemb_cc2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:110:99:0:0:110:3338:385.86:270.84:115.02:1.00:1.00:1.00:60:40.4:0:0:39:104:25:NM_014858.3(TMCC2) c.1819-28A>G,NM_014858.3(TMCC2) c.1819-28A>G:0.95,0.95:0.931186,0.931186 1 205241253 . G . . NT END=205272577;NT GT ./. 1 205272609 . T A 179 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=127;PC=0.015;Gene=NUAK2/NM_030952.2/1;CC=c.1988A>T;ProtCh=p.Q663L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:127:103:0:0:58,1,68:1890,6,2180:178.88,-0.21,0.00:125.16,-0.12,0.00:53.72,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.6,6.0,9.4:0,0,0:0,0,0:43,124,58:105,25,91:21,0,36:NM_030952.1(NUAK2) c.1856A>T (p.Gln619Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 205272926 rs1106201 C T 208 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.6769,G/.,T/0.3231;Gene=NUAK2/NM_030952.2/1;CC=c.1671G>A;ProtCh=p.L557=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:148:109:0:0:81,67:2642,2200:0.00,207.68:0.00,118.93:0.00,88.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,63.9:0,0:0,0:61,89:87,58:32,35:-,NM_030952.1(NUAK2) c.1539G>A (p.(=)):-,0.32:-,0.250231 1 205272983 rs1106202 C G 214 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=170;DB;DBA=NA;PAF=C/0.6775,G/0.3225;PC=0.238;Gene=NUAK2/NM_030952.2/1;CC=c.1614G>C;ProtCh=p.L538=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:170:126:0:0:97,73:3278,2296:0.00,213.93:0.00,124.61:0.00,89.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,58.4:0,0:0,0:73,61:70,83:42,31:-,NM_030952.1(NUAK2) c.1482G>C (p.(=)):-,0.32:-,0.249039 1 205273142 rs41264881 G C 246 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=G/0.9237,C/0.07628,T/.;Gene=NUAK2/NM_030952.2/1;CC=c.1455C>G;ProtCh=p.P485=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:161:95:0:0:82,79:2554,2560:245.79,0.00:108.80,0.00:136.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,5.8:0,0:0,0:78,80:68,67:23,36:NM_030952.1(NUAK2) c.=,-:0.09,-:0.126019,- 1 205273642 . C . . NT END=205274326;NT GT ./. 1 205274174 rs10793728 A G 82 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.355,G/0.645;Gene=NUAK2/NM_030952.2/1;CC=c.955+153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:25:0:0:25:697:81.53:81.53:0.00:1.00:1.00:0.00:60:44.7:0:0:55:96:19:NM_030952.1(NUAK2) c.823+153T>C,NM_030952.1(NUAK2) c.823+153T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 1 205274460 . C . . NT END=205274558;NT GT ./. 1 205274667 . A . . NT END=205275315;NT GT ./. 1 205274675 rs1539695 C T 103 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.6781,T/0.3219;Gene=NUAK2/NM_030952.2/1;CC=c.823-216G>A;VC=Intron;DM=NUAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:38:0:0:41,36:1242,1093:0.00,103.30:0.00,39.22:0.00,64.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,46.9:0,0:0,0:99,93:44,56:23,34:-,NM_030952.1(NUAK2) c.691-216G>A:-,0.32:-,NOT_FOUND 1 205275206 rs4951195 A T 109 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.01518,T/0.9848;Gene=NUAK2/NM_030952.2/1;CC=c.822+110T>A;VC=Intron;DM=NUAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G,T:35:34:0:0:2,33:22,946:0.95,109.40:0.95,107.67:0.00,1.73:0.00,1.00:0.00,1.00:0.00,0.96:60,60:69.0,68.1:0,0:0,0:34,52:117,99:6,24:NM_030952.1(NUAK2) c.690+110T>A,NM_030952.1(NUAK2) c.690+110T>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 205275207 rs4951196 G T 110 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.01538,T/0.9846;Gene=NUAK2/NM_030952.2/1;CC=c.822+109C>A;VC=Intron;DM=NUAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:93:T:35:34:0:0:35:940:110.34:106.67:3.68:1.00:1.00:1.00:60:68.1:0:0:52:99:23:NM_030952.1(NUAK2) c.690+109C>A,NM_030952.1(NUAK2) c.690+109C>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 205275421 rs4951197 A G 433 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=A/0.02077,G/0.9792;PC=0.553;Gene=NUAK2/NM_030952.2/1;CC=c.717T>C;ProtCh=p.G239=;VC=Silent;DM=NUAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:114:72:0:0:113,1:3798,10:433.16,0.09:182.58,0.09:250.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,57.0:0,0:0,0:65,10:83,140:34,0:NM_030952.1(NUAK2) c.=,NM_030952.1(NUAK2) c.=:0.98,0.98:0.979471,0.979471 1 205275436 . C . . NT END=205277292;NT GT ./. 1 205277359 . C . . NT END=205277708;NT GT ./. 1 205277861 . C . . NT END=205280832;NT GT ./. 1 205280954 . C . . NT END=205290525;NT GT ./. 1 205290757 . G . . NT END=205306526;NT GT ./. 1 205306721 . C . . NT END=205307622;NT GT ./. 1 205307725 . C . . NT END=205308321;NT GT ./. 1 205308538 . C . . NT END=205308771;NT GT ./. 1 205308937 . C . . NT END=205312356;NT GT ./. 1 205312280 rs7549293 C G 134 nt VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.376,G/0.624;Gene=KLHDC8A/NM_018203.2/0;CC=c.376+77G>C;VC=Intron;Gene=KLHDC8A/NM_001271863.1/1;CC=c.376+77G>C;VC=Intron;Gene=KLHDC8A/NM_001271864.1/0;CC=c.376+77G>C;VC=Intron;Gene=KLHDC8A/NM_001271865.1/0;CC=c.376+77G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:87:82:0:0:42,45:1369,1385:0.00,133.69:0.00,106.31:0.00,27.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,41.1:0,0:0,0:45,38:105,111:24,27:-,NM_018203.1(KLHDC8A) c.376+77G>C:-,0.6:-,NOT_FOUND 1 205312733 . G . . NT END=205350785;NT GT ./. 1 205312767 rs7526603 G T 108 nt VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.6807,T/0.3193;PC=0.002;Gene=KLHDC8A/NM_018203.2/0;CC=c.-35C>A;VC=5UTR;Gene=KLHDC8A/NM_001271863.1/1;CC=c.-35C>A;VC=5UTR;Gene=KLHDC8A/NM_001271864.1/0;CC=c.-35C>A;VC=5UTR;Gene=KLHDC8A/NM_001271865.1/0;CC=c.-35C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:77:39:0:0:1,39,37:24,1213,1128:0.81,0.00,107.55:-0.08,0.00,28.22:0.90,0.00,79.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,60:231.0,28.4,45.3:0,0,0:0,0,0:116,84,78:21,62,58:0,38,37:-,NM_018203.1(KLHDC8A) c.-35C>A:-,0.36:-,0.316145 1 205312848 rs7526701 G A 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6,A/0.4;Gene=KLHDC8A/NM_018203.2/0;CC=c.-116C>T;VC=5UTR;Gene=KLHDC8A/NM_001271863.1/1;CC=c.-116C>T;VC=5UTR;Gene=KLHDC8A/NM_001271864.1/0;CC=c.-116C>T;VC=5UTR;Gene=KLHDC8A/NM_001271865.1/0;CC=c.-116C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:10:0:0:21,17:671,506:65.77,0.00:8.35,0.00:57.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,40.5:0,0:0,0:101,117:50,34:30,19:NM_018203.1(KLHDC8A) c.=,-:0.42,-:NOT_FOUND,- 1 205320428 rs55962699 A T 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8858,T/0.1142;PC=1.000;Gene=KLHDC8A/NM_018203.2/0;CC=c.-190+5233T>A;VC=Intron;Gene=KLHDC8A/NM_001271863.1/1;CC=c.-729-2710T>A;VC=Intron;Gene=KLHDC8A/NM_001271864.1/0;CC=c.-190+5233T>A;VC=Intron;Gene=KLHDC8A/NM_001271865.1/0;CC=c.-404-2710T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,T:9:8:0:0:4,5:134,176:0.00,17.30:0.00,14.16:0.00,3.14:0.00,0.96:0.00,1.00:0.00,0.96:60,60:34.2,40.2:0,0:0,0:77,80:73,70:15,53:-,NM_018203.1(KLHDC8A) c.-190+5233T>A:-,0.12:-,NOT_FOUND 1 205320469 rs4951205 G A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6707,A/0.3293;PC=1.000;Gene=KLHDC8A/NM_018203.2/0;CC=c.-190+5192C>T;VC=Intron;Gene=KLHDC8A/NM_001271863.1/1;CC=c.-729-2751C>T;VC=Intron;Gene=KLHDC8A/NM_001271864.1/0;CC=c.-190+5192C>T;VC=Intron;Gene=KLHDC8A/NM_001271865.1/0;CC=c.-404-2751C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:14:0:0:7,12:228,368:20.71,0.00:14.87,0.00:5.84,0.00:0.98,0.00:0.99,0.00:0.99,0.00:60,60:36.7,10.1:0,0:0,0:53,37:97,111:39,17:NM_018203.1(KLHDC8A) c.-190+5192C>T,-:0.35,-:NOT_FOUND,- 1 205350985 . C . . NT END=205353415;NT GT ./. 1 205353493 . C . . NT END=205385359;NT GT ./. 1 205385425 . C . . NT END=205388357;NT GT ./. 1 205385498 rs6688045 C T 57 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.1899,T/0.8101;Gene=LEMD1/NM_001001552.4/0;CC=c.205+2860G>A;VC=Intron;Gene=LEMD1/NM_001199050.1/1;CC=c.206-74G>A;VC=Intron;Gene=LEMD1/NM_001199051.1/0;CC=c.83-74G>A;VC=Intron;Gene=LEMD1/NM_001199052.1/0;CC=c.82+4085G>A;VC=Intron;Gene=LEMD1/NR_037583.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:7:0:0:15:494:56.55:15.16:41.40:1.00:1.00:1.00:60:32.9:0:0:116:34:27:NM_001199050.1(LEMD1) c.206-74G>A,NM_001199050.1(LEMD1) c.206-74G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 205388384 rs35101083 C G 131 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.9966,G/0.003395,T/.;NP=34;Gene=LEMD1/NM_001001552.4/0;CC=c.179G>C;ProtCh=p.G60A;VC=Missense;Gene=LEMD1/NM_001199050.1/1;CC=c.179G>C;ProtCh=p.G60A;VC=Missense;Gene=LEMD1/NM_001199051.1/0;CC=c.82+1199G>C;VC=Intron;Gene=LEMD1/NM_001199052.1/0;CC=c.82+1199G>C;VC=Intron;Gene=LEMD1/NR_037583.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:99:73:0:0:58,41:1935,1407:0.00,131.08:0.00,56.85:0.00,74.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,35.8:0,0:0,0:75,84:69,65:38,27:-,NM_001199050.1(LEMD1) c.179G>C (p.Gly60Ala):-,0.0046:-,0.004536 1 205388481 . C . . NT END=205389582;NT GT ./. 1 205388687 rs913727 T G 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1148,G/0.8852;PC=0.002;Gene=LEMD1/NM_001001552.4/0;CC=c.83-207A>C;VC=Intron;Gene=LEMD1/NM_001199050.1/1;CC=c.83-207A>C;VC=Intron;Gene=LEMD1/NM_001199051.1/0;CC=c.82+896A>C;VC=Intron;Gene=LEMD1/NM_001199052.1/0;CC=c.82+896A>C;VC=Intron;Gene=LEMD1/NR_037583.1/0;VC=NonCoding;DM=LEMD1/LEM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:243:27.64:0.00:27.64:1.00:0.00:1.00:60:34.7:0:0:117:33:16:NM_001199050.1(LEMD1) c.83-207A>C,NM_001199050.1(LEMD1) c.83-207A>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 205389665 . G . . NT END=205492295;NT GT ./. 1 205492426 . G . . NT END=205492610;NT GT ./. 1 205492756 rs7529442 A G 442 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.07867,G/0.9213;PC=0.996;Gene=CDK18/NM_002596.3/1;CC=c.273+3A>G;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.273+3A>G;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.276A>G;ProtCh=p.V92=;VC=Silent;DM=CDK18/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:117:67:0:0:117:3863:441.92:169.08:272.84:1.00:1.00:1.00:60:41.5:0:0:87:61:27:NM_212503.2(CDK18) c.=,NM_212503.2(CDK18) c.=:0.92,0.92:0.959382,0.959382 1 205492844 . g . . NT END=205493359;NT GT ./. 1 205493486 . G . . NT END=205494266;NT GT ./. 1 205494324 . G . . NT END=205495192;NT GT ./. 1 205494512 rs12122797 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7474,G/0.2526;Gene=CDK18/NM_002596.3/1;CC=c.456+189A>G;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.456+189A>G;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.546+189A>G;VC=Intron;DM=CDK18/Pkinase;DM=CDK18/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:8:0:0:0:3,5:60,161:0.00,16.22:0.00,0.00:0.00,16.22:0.00,0.97:0.00,0.00:0.00,0.97:60,60:51.0,34.2:0,0:0,0:65,105:86,44:28,27:-,NM_212503.2(CDK18) c.546+189A>G:-,0.21:-,NOT_FOUND 1 205494971 rs144322863 G A 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9804,A/0.01957;Gene=CDK18/NM_002596.3/1;CC=c.457-222G>A;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.457-222G>A;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.547-222G>A;VC=Intron;DM=CDK18/Pkinase;DM=CDK18/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:5:0:0:2,3:69,95:6.39,0.00:6.39,0.00:0.00,0.00:0.46,0.00:0.46,0.00:0.00,0.00:60,60:34.5,0.0:0,0:0,0:45,14:104,137:3,14:NM_212503.2(CDK18) c.547-222G>A,-:0.02,-:NOT_FOUND,- 1 205495308 . G . . NT END=205495494;NT GT ./. 1 205495392 rs2297837 A G 115 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1032,G/0.8968;Gene=CDK18/NM_002596.3/1;CC=c.571+85A>G;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.571+85A>G;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.661+85A>G;VC=Intron;DM=CDK18/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:14:0:0:32:1002:115.42:46.90:68.52:1.00:1.00:1.00:60:42.2:0:0:89:62:41:NM_212503.2(CDK18) c.661+85A>G,NM_212503.2(CDK18) c.661+85A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 205495590 . G . . NT END=205495902;NT GT ./. 1 205495966 . G . . NT END=205496921;NT GT ./. 1 205495976 rs1544154 A G 219 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=CDK18/NM_002596.3/1;CC=c.729+11A>G;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.729+11A>G;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.819+11A>G;VC=Intron;DM=CDK18/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:G:61:33:0:0:61:1903:219.20:79.06:140.14:1.00:1.00:1.00:60:46.3:0:0:84:62:26:NM_212503.2(CDK18) c.819+11A>G,NM_212503.2(CDK18) c.819+11A>G:1,1:0.999846,0.999846 1 205497046 . G . . NT END=205497175;NT GT ./. 1 205497297 . G . . NT END=205498126;NT GT ./. 1 205498021 rs7531230 T C 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3638,C/0.6362;Gene=CDK18/NM_002596.3/1;CC=c.975-106T>C;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.975-106T>C;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.1065-106T>C;VC=Intron;DM=CDK18/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:13:0:0:14:436:50.27:46.59:3.68:1.00:1.00:1.00:60:52.6:0:0:40:110:24:NM_212503.2(CDK18) c.1065-106T>C,NM_212503.2(CDK18) c.1065-106T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 205498225 . G . . NT END=205498451;NT GT ./. 1 205498558 . G . . NT END=205498648;NT GT ./. 1 205499086 rs536358582 T TA 113 PASS VT=INS;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.8798,TA/0.1202;DB;DBA=NA;PAF=T/0.8798,TA/0.1202;NP=17;Gene=CDK18/NM_002596.3/1;CC=c.1222-300dupA;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.1222-300dupA;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.1312-300dupA;VC=Intron;DM=CDK18/Pkinase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:77:67:38:0:1,38,38:26,1210,1173:1.00,0.00,112.52:1.07,0.00,86.76:-0.07,0.00,25.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:26.0,14.8,16.1:0,0,0:0,0,0:1,49,69:150,97,75:0,26,29:-,NM_212503.2(CDK18) c.1312-301_1312-300insA:-,NOT_FOUND:-,NOT_FOUND 1 205499370 . C . . NT END=205499386;NT GT ./. 1 205499478 . G . . NT END=205499755;NT GT ./. 1 205499577 rs6668356 C G 56 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.4309,G/0.5691;Gene=CDK18/NM_002596.3/1;CC=c.1312+100C>G;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.1312+100C>G;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.1402+100C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:35:6:0:0:1,15,19:9,448,574:0.01,0.00,56.24:-0.04,0.00,6.28:0.04,0.00,49.95:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:159.0,3.2,50.1:0,0,0:0,0,0:106,110,113:44,41,38:0,31,23:-,NM_212503.2(CDK18) c.1402+100C>G:-,0.53:-,NOT_FOUND 1 205499660 rs41264895 C T 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.878,T/0.122;Gene=CDK18/NM_002596.3/1;CC=c.1313-96C>T;VC=Intron;Gene=CDK18/NM_212502.2/0;CC=c.1313-96C>T;VC=Intron;Gene=CDK18/NM_212503.2/0;CC=c.1403-96C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:17:0:0:8,16:261,520:0.00,53.00:0.00,37.77:0.00,15.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,56.9:0,0:0,0:47,41:103,109:24,32:-,NM_212503.2(CDK18) c.1403-96C>T:-,0.15:-,NOT_FOUND 1 205499834 . G . . NT END=205500471;NT GT ./. 1 205500507 . G . . NT END=205538197;NT GT ./. 1 205500543 rs11240507 T C 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.8778,C/0.1222;PC=0.002;Gene=CDK18/NM_002596.3/1;CC=c.*37T>C;VC=3UTR;Gene=CDK18/NM_212502.2/0;CC=c.*37T>C;VC=3UTR;Gene=CDK18/NM_212503.2/0;CC=c.*37T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:22:0:0:19,21:621,693:59.14,0.00:22.54,0.00:36.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,3.4:0,0:0,0:122,106:29,41:20,27:NM_212503.2(CDK18) c.*37T>C,-:0.15,-:0.217131,- 1 205537858 rs12024377 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6542,A/0.3458 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:5:5:0:0:3,2:101,64:10.07,0.00:10.07,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:41.0,0.0:0,0:0,0:37,78:114,66:21,30:NM_181644.4(MFSD4) c.-86-u254G>A,-:0.41,-:NOT_FOUND,- 1 205538428 . G . . NT END=205548878;NT GT ./. 1 205538585 rs11576414 A G 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.03754,G/0.9625;Gene=MFSD4/NM_181644.4/1;CC=c.230+158A>G;VC=Intron;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:0:0:0:21:677:77.69:0.00:77.69:1.00:0.00:1.00:60:47.1:0:0:95:56:28:NM_181644.4(MFSD4) c.230+158A>G,NM_181644.4(MFSD4) c.230+158A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 205538602 rs60042957 G GCCTC 9 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=85;Gene=MFSD4/NM_181644.4/1;CC=c.230+197_230+198insTCCC;VC=Intron;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,GCCTC:21:0:4:0:17,4:586,113:0.00,8.77:0.00,0.00:0.00,8.77:0.00,0.70:0.00,0.00:0.00,0.70:60,60:36.6,62.8:1,0:0,0:108,91:41,58:32,16:-,NM_181644.4(MFSD4) c.230+175_230+176insCCTC:-,NOT_FOUND:-,NOT_FOUND 1 205549078 . G . . NT END=205549788;NT GT ./. 1 205549559 rs4523578 T C 106 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.04673,C/0.9533;Gene=MFSD4/NM_181644.4/1;CC=c.430-230T>C;VC=Intron;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:30:0:0:30:916:105.86:103.98:1.89:1.00:1.00:1.00:60:42.5:0:0:48:102:22:NM_181644.4(MFSD4) c.430-230T>C,NM_181644.4(MFSD4) c.430-230T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 205550050 . G . . NT END=205553082;NT GT ./. 1 205553252 . G . . NT END=205554003;NT GT ./. 1 205553346 rs59902779 A ATT 53 idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.115;Gene=MFSD4/NM_181644.4/1;CC=c.859+115_859+116insTT;VC=Intron;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,ATT,D:60:6:27:13:30,1,1,19,9:853,12,28,814,346:0.00,0.02,1.26,52.74,20.78:0.00,-0.02,-0.02,-0.54,-0.24:0.00,0.05,1.28,53.28,21.01:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.82,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,70,60:30.6,75.0,121.0,33.1,43.1:0,0,0,8,3:0,0,0,0,0:124,74,85,96,110:21,73,65,54,40:19,0,0,21,15:-,NM_181644.4(MFSD4) c.859+95_859+96insTT:-,NOT_FOUND:-,NOT_FOUND 1 205554085 rs7526132 G C 286 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=174;DB;DBA=NA;PAF=G/0.5741,C/0.4259;PC=1.000;Gene=MFSD4/NM_181644.4/1;CC=c.941G>C;ProtCh=p.G314A;VC=Missense;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:174:113:0:0:90,83,1:2950,2791,11:285.92,0.00,-0.14:113.68,0.00,-0.02:172.24,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.7,6.1,29.0:0,0,0:0,0,0:96,74,125:45,65,26:31,36,0:NM_181644.4(MFSD4) c.941G>C (p.Gly314Ala),-:0.42,-:0.538213,- 1 205554095 rs7515820 A C 255 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=164;DB;DBA=NA;PAF=A/0.6402,C/0.3598;PC=0.934;Gene=MFSD4/NM_181644.4/1;CC=c.951A>C;ProtCh=p.V317=;VC=Silent;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:164:98:0:0:81,83:2480,2647:0.00,254.96:0.00,84.84:0.00,170.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,69.8:0,0:0,0:90,93:54,51:37,33:-,NM_181644.4(MFSD4) c.951A>C (p.(=)):-,0.36:-,0.492926 1 205554120 . G . . NT END=205555161;NT GT ./. 1 205555145 rs7531623 G A 268 nt VT=SNV;PN=C;NN=C;SST=Single;DP=182;DB;DBA=NA;PAF=G/0.5821,A/0.4179;PC=0.001;Gene=MFSD4/NM_181644.4/1;CC=c.976-17G>A;VC=Intron;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:182:158:0:0:87,94,1:2810,3012,13:268.13,0.00,-0.10:194.16,0.00,-0.13:73.97,0.00,0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.5,4.2,33.0:0,0,0:0,0,0:57,49,96:92,96,55:38,27,0:NM_181644.4(MFSD4) c.976-17G>A,-:0.4,-:0.460557,- 1 205555336 . G . . NT END=205561267;NT GT ./. 1 205561372 rs7529077 C T 372 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=277;DB;DBA=NA;PAF=C/0.866,A/.,T/0.134;PC=1.000;Gene=MFSD4/NM_181644.4/1;CC=c.1254C>T;ProtCh=p.F418=;VC=Silent;DM=MFSD4/MFS_1;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:277:170:0:0:1,150,1,125:28,4724,11,3948:0.67,0.00,-0.21,372.06:-0.11,0.00,-0.06,156.09:0.79,0.00,-0.15,215.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:28.0,13.2,122.0,38.6:0,0,0,0:0,0,0,0:147,80,116,84:4,64,8,60:0,40,0,43:-,NM_181644.4(MFSD4) c.1254C>T (p.(=)):-,0.15:-,0.22282 1 205561416 . G . . NT END=205566907;NT GT ./. 1 205561493 rs544635688 GCT G 28 sb,nt VT=DEL;SST=Single;DP=141;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GCT/0.5551,G/0.4449;NP=9;PC=0.020;Gene=MFSD4/NM_181644.4/1;CC=c.1297+81_1297+82delCT;VC=Intron;DM=MFSD4/MFS_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:GCT,G:140:50:0:16:126,14:3927,422:0.00,27.87:0.00,0.12:0.00,27.75:0.00,1.00:0.00,0.97:0.00,1.00:60,60:45.0,48.2:40,1:0,0:108,110:38,41:25,23:-,NM_181644.4(MFSD4) c.1297+79_1297+80delCT:-,0.52:-,NOT_FOUND 1 205561495 rs143503253 TC T 92 idl,nt VT=DEL;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=15;PC=0.003;Gene=MFSD4/NM_181644.4/1;CC=c.1297+81delC;VC=Intron;DM=MFSD4/MFS_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:121:44:0:53:85,36:2562,1071:0.00,92.33:0.00,18.25:0.00,74.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.6,44.1:5,0:0,0:113,98:30,49:26,25:-,NM_181644.4(MFSD4) c.1297+81delC:-,0.52:-,NOT_FOUND 1 205561496 rs74231752 C T 44 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=6;PC=0.003;Gene=MFSD4/NM_181644.4/1;CC=c.1297+81C>T;VC=Intron;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,D:94:30:0:45:68,20,6:2049,553,213:0.00,44.40,12.66:0.00,8.00,6.15:0.00,36.40,6.51:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:40.1,60.6,79.0:13,1,1:0,0,0:100,137,74:44,11,77:25,9,16:-,NM_181644.4(MFSD4) c.1297+81C>T:-,NOT_FOUND:-,NOT_FOUND 1 205561511 rs6593956 T A 351 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2025,A/0.7975;PC=0.037;Gene=MFSD4/NM_181644.4/1;CC=c.1297+96T>A;VC=Intron;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:111:A,T,I:118:24:6:0:106,6,6:3121,153,176:351.36,0.00,12.60:39.42,0.00,2.69:311.94,0.00,9.91:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:49.4,59.5,20.5:0,2,0:0,0,0:97,142,96:50,8,55:32,7,20:NM_181644.4(MFSD4) c.1297+96T>A,NM_181644.4(MFSD4) c.1297+96T>A:0.71,0.71:NOT_FOUND,NOT_FOUND 1 205566689 . T C 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;Gene=MFSD4/NM_181644.4/1;CC=c.1298-219T>C;VC=Intron;DM=MFSD4/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:13,10:368,323:36.13,0.00:36.13,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:56.6,1.1:0,0:0,0:13,33:117,117:10,21:NM_181644.4(MFSD4) c.1298-219T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 205566979 . G . . NT END=205568258;NT GT ./. 1 205567990 rs12092624 C T 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6318,T/0.3682;Gene=MFSD4/NM_181644.4/1;CC=c.1369-269C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,T:13:13:0:0:8,5:252,142:0.00,12.80:0.00,12.80:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:0.0,32.4:0,0:0,0:60,53:89,97:12,46:-,NM_181644.4(MFSD4) c.1369-269C>T:-,0.4:-,NOT_FOUND 1 205568380 . G . . NT END=205569533;NT GT ./. 1 205568442 rs2282452 G A 179 nt VT=SNV;PN=G;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.727,A/0.273;PC=0.014;Gene=MFSD4/NM_181644.4/1;CC=c.1489+63G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:107:36:0:0:59,47,1:1827,1524,9:179.20,0.00,-0.11:40.86,0.00,0.03:138.34,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.7,11.5,65.0:0,0,0:0,0,0:92,100,88:57,50,62:28,34,0:NM_181644.4(MFSD4) c.1489+63G>A,-:0.32,-:NOT_FOUND,- 1 205569590 . A . . NT END=205585673;NT GT ./. 1 205585773 . C . . NT END=205588084;NT GT ./. 1 205588202 . C . . NT END=205588395;NT GT ./. 1 205589967 . C . . NT END=205592803;NT GT ./. 1 205589975 . TA T 20 sb,rn VT=DEL;SST=Single;DP=87;NP=85;PC=0.998;Gene=ELK4/NM_001973.3/1;CC=c.208-10delT;VC=Intron;Gene=ELK4/NM_021795.2/0;CC=c.208-10delT;VC=Intron;DM=ELK4/Ets;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,TA,I,T:87:34:2:9:1,75,2,9:16,2282,58,280:-0.00,0.00,2.74,19.89:-0.10,0.00,1.83,1.78:0.10,0.00,0.91,18.12:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.92:0.00,0.00,0.00,1.00:60,60,60,60:87.0,13.5,23.5,19.4:0,1,0,0:0,0,0,0:117,81,51,105:-6,66,88,44:0,40,23,26:-,NM_001973.3(ELK4) c.208-10delT:-,NOT_FOUND:-,0.109795 1 205590152 rs11577251 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8504,A/0.1496;Gene=ELK4/NM_001973.3/1;CC=c.208-186C>T;VC=Intron;Gene=ELK4/NM_021795.2/0;CC=c.208-186C>T;VC=Intron;DM=ELK4/Ets GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:15:0:0:0:5,10:138,320:12.05,0.00:0.00,0.00:12.05,0.00:0.89,0.00:0.00,0.00:0.89,0.00:60,60:38.8,13.2:0,0:0,0:59,110:92,40:15,16:NM_001973.3(ELK4) c.208-186C>T,-:0.18,-:NOT_FOUND,- 1 205593020 . C . . NT END=205628361;NT GT ./. 1 205628800 . C . . NT END=205630988;NT GT ./. 1 205631777 . C . . NT END=205631960;NT GT ./. 1 205632747 . C . . NT END=205633612;NT GT ./. 1 205632932 rs11240547 A G 47 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6581,G/0.3419;Gene=SLC45A3/NM_033102.2/1;CC=c.173-186T>C;VC=Intron;DM=SLC45A3/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:406:46.75:0.00:46.75:1.00:0.00:1.00:60:42.2:0:0:115:31:34:NM_033102.2(SLC45A3) c.173-186T>C,NM_033102.2(SLC45A3) c.173-186T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 1 205634015 . C . . NT END=205686446;NT GT ./. 1 205686523 rs386369425 G GT 61 idl,rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.7762,GT/0.2238;DB;DBA=NA;PAF=G/0.7762,GT/0.2238;NP=129;Gene=NUCKS1/NM_022731.4/1;CC=c.*884dupA;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:58:49:29:5:32,22,4:901,873,146:0.00,61.20,7.50:0.00,42.28,2.96:0.00,18.92,4.54:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:23.8,44.6,33.8:0,7,1:0,0,0:73,60,76:77,90,75:33,35,38:-,NM_022731.4(NUCKS1) c.*884dupA:-,NOT_FOUND:-,NOT_FOUND 1 205686624 . CT C 45 idl,rn VT=DEL;SST=Single;DP=69;NP=3;PC=0.001;Gene=NUCKS1/NM_022731.4/1;CC=c.*783delA;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:56:39:2:29:37,2,1,16:1179,46,65,879:0.00,2.22,1.51,44.65:0.00,-0.16,-0.08,31.12:0.00,2.38,1.58,13.53:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:70,60,60,60:28.0,60.5,11.0,17.9:0,1,1,12:0,0,0,0:88,60,73,75:61,83,77,69:25,19,7,31:-,NM_022731.4(NUCKS1) c.*769A[14]:-,NOT_FOUND:-,NOT_FOUND 1 205687213 . TA T 36 idl,rn VT=DEL;SST=Single;DP=99;NP=2;PC=0.367;Gene=NUCKS1/NM_022731.4/1;CC=c.*194delT;VC=3UTR;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:90:73:6:24:3,67,5,15:53,1991,191,697:1.93,0.00,10.50,35.81:1.79,0.00,7.28,27.30:0.13,0.00,3.23,8.50:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:41.3,29.0,14.2,52.5:0,0,1,8:0,0,0,0:28,98,71,45:102,46,80,106:7,34,39,18:-,NM_022731.4(NUCKS1) c.*176T[18]:-,NOT_FOUND:-,NOT_FOUND 1 205687348 rs71709139 CTTTTTTCTTT C 91 PASS VT=DEL;SST=Single;DP=118;DB;DBA=NA;PAF=CTTTTTTCTTT/0.8211,C/0.1789;NP=1313;PC=0.999;Gene=NUCKS1/NM_022731.4/1;CC=c.*50_*59delAAAGAAAAAA;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTTTTCTTT,I,C:117:70:2:40:77,2,38:2362,45,1071:0.00,1.47,90.96:0.00,0.35,41.88:0.00,1.12,49.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:19.3,53.0,15.7:0,0,1:0,0,0:110,73,72:34,77,79:30,69,26:-,NM_022731.4(NUCKS1) c.*40AAAGAAAAAA[1]:-,NOT_FOUND:-,NOT_FOUND 1 205687355 . CTTTTTTTTTCT C 14 idl VT=DEL;SST=Single;DP=74;PC=0.002;Gene=NUCKS1/NM_022731.4/1;CC=c.*42_*52delAGAAAAAAAAA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,CTTTTTTTTTCT,T,I,C:73:47:1:46:2,62,2,1,6:25,1874,42,34,234:0.11,0.00,1.52,1.65,14.15:0.32,0.00,1.53,-0.20,6.99:-0.21,0.00,-0.02,1.84,7.16:0.00,0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.92:60,60,60,60,60:43.0,21.7,109.5,33.0,6.0:1,4,0,0,1:0,0,0,0,0:74,105,78,78,97:48,34,73,70,54:15,38,66,0,24:-,NM_022731.4(NUCKS1) c.*42_*52delAGAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 205687608 . C . . NT END=205688654;NT GT ./. 1 205687873 rs823092 A T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1777,T/0.8223;Gene=NUCKS1/NM_022731.4/1;CC=c.533-266T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:321:36.86:0.00:36.86:1.00:0.00:1.00:60:35.8:0:0:91:58:35:NM_022731.4(NUCKS1) c.533-266T>A,NM_022731.4(NUCKS1) c.533-266T>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 205688805 . C . . NT END=205689628;NT GT ./. 1 205689782 . C . . NT END=205693053;NT GT ./. 1 205689807 rs823094 T G 63 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.8051,C/.,G/0.1949;PC=0.019;Gene=NUCKS1/NM_022731.4/1;CC=c.230-26A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:57:15:0:0:2,21,34:17,687,1072:-0.11,62.82,0.00:-0.14,1.80,0.00:0.02,61.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:91.5,38.2,3.3:0,0,0:0,0,0:99,103,98:48,46,51:36,35,23:NM_022731.4(NUCKS1) c.230-26A>C,-:0.25,-:0.358373,- 1 205693110 . C . . NT END=205696827;NT GT ./. 1 205696671 rs1772147 G A 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1773,A/0.8227;Gene=NUCKS1/NM_022731.4/1;CC=c.173+157C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:287:32.99:32.99:0.00:1.00:1.00:0.00:60:42.0:0:0:20:131:16:NM_022731.4(NUCKS1) c.173+157C>T,NM_022731.4(NUCKS1) c.173+157C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 1 205696934 . C . . NT END=205698699;NT GT ./. 1 205698750 . C . . NT END=205719084;NT GT ./. 1 205715573 rs547749327 TCTCTCTCTCACA T 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;Gene=NUCKS1/NM_022731.4/1;CC=c.17+3500_17+3511delTGTGAGAGAGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:TCTCTCTCTCACA,T:5:4:0:4:2,3:63,100:0.00,9.97:0.00,4.49:0.00,5.48:0.00,0.78:0.00,0.97:0.00,0.87:60,60:5.0,0.0:0,0:0,0:5,21:139,122:1,1:-,NM_022731.4(NUCKS1) c.17+3500_17+3511delTGTGAGAGAGAG:-,NOT_FOUND:-,NOT_FOUND 1 205715616 rs71777094 CTA C 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=81;PC=0.001;Gene=NUCKS1/NM_022731.4/1;CC=c.17+3467_17+3468delTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:CTA,C:4:3:0:5:1,3:25,100:0.00,10.46:0.00,4.93:0.00,5.53:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,0.0:0,0:0,0:149,52:1,91:0,1:-,NM_022731.4(NUCKS1) c.17+3467_17+3468delTA:-,0.34:-,NOT_FOUND 1 205718858 rs7536483 A T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.8231,T/0.1769;PC=0.001;Gene=NUCKS1/NM_022731.4/1;CC=c.17+227T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:20:0:0:11,9:264,271:0.00,25.45:0.00,25.45:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.4,59.3:0,0:0,0:53,32:98,119:46,5:-,NM_022731.4(NUCKS1) c.17+227T>A:-,0.23:-,NOT_FOUND 1 205718967 rs186075993 G A 98 nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.9936,A/0.00639;PC=0.049;Gene=NUCKS1/NM_022731.4/1;CC=c.17+118C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:64:60:0:0:33,1,30:1010,6,909:97.80,-0.16,0.00:93.87,-0.18,0.00:3.92,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:81.6,6.0,35.5:0,0,0:0,0,0:32,17,27:113,134,110:28,0,20:NM_022731.4(NUCKS1) c.17+118C>T,-:0.01,-:NOT_FOUND,- 1 205719102 . G . . NT END=205739469;NT GT ./. 1 205739266 rs708723 C T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5853,T/0.4147;Gene=RAB29/NM_001135662.1/1;CC=c.*204G>A;VC=3UTR;Gene=RAB29/NM_001135663.1/0;CC=c.*204G>A;VC=3UTR;Gene=RAB29/NM_001135664.1/0;CC=c.*204G>A;VC=3UTR;Gene=RAB29/NM_003929.2/0;CC=c.*204G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:C,T:9:9:0:0:4,5:142,151:0.00,14.80:0.00,14.80:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:21.8,58.6:0,0:0,0:44,18:105,133:6,6:-,NM_003929.2(RAB7L1) c.*204G>A:-,0.43:-,NOT_FOUND 1 205739396 rs823139 T G 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.279,G/0.721;PC=0.036;Gene=RAB29/NM_001135662.1/1;CC=c.*74A>C;VC=3UTR;Gene=RAB29/NM_001135663.1/0;CC=c.*74A>C;VC=3UTR;Gene=RAB29/NM_001135664.1/0;CC=c.*74A>C;VC=3UTR;Gene=RAB29/NM_003929.2/0;CC=c.*74A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:18:0:0:10,9:305,276:29.58,0.00:27.04,0.00:2.54,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:57.7,5.7:0,0:0,0:82,29:68,122:61,24:NM_003929.2(RAB7L1) c.*74A>C,-:0.75,-:NOT_FOUND,- 1 205739582 . C . . NT END=205739860;NT GT ./. 1 205739983 . C . . NT END=205740599;NT GT ./. 1 205740320 rs112719620 G A 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9539,A/0.04613;PC=0.001;Gene=RAB29/NM_001135662.1/1;CC=c.378+280C>T;VC=Intron;Gene=RAB29/NM_001135663.1/0;CC=c.306+280C>T;VC=Intron;Gene=RAB29/NM_001135664.1/0;CC=c.162+280C>T;VC=Intron;Gene=RAB29/NM_003929.2/0;CC=c.378+280C>T;VC=Intron;DM=RAB29/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:6:4:0:0:3,3:75,69:7.14,0.00:4.36,0.00:2.77,0.00:0.73,0.00:0.51,0.00:0.79,0.00:60,60:51.3,24.0:0,0:0,0:57,131:94,19:41,15:NM_003929.2(RAB7L1) c.378+280C>T,-:0.05,-:NOT_FOUND,- 1 205740403 rs823140 A G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1881,G/0.8119;Gene=RAB29/NM_001135662.1/1;CC=c.378+197T>C;VC=Intron;Gene=RAB29/NM_001135663.1/0;CC=c.306+197T>C;VC=Intron;Gene=RAB29/NM_001135664.1/0;CC=c.162+197T>C;VC=Intron;Gene=RAB29/NM_003929.2/0;CC=c.378+197T>C;VC=Intron;DM=RAB29/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:135:15.41:11.63:3.78:1.00:1.00:1.00:60:49.8:0:0:94:56:13:NM_003929.2(RAB7L1) c.378+197T>C,NM_003929.2(RAB7L1) c.378+197T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 205740474 rs147046832 G GA 21 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9295,GA/0.07049;NP=434;Gene=RAB29/NM_001135662.1/1;CC=c.378+125dupT;VC=Intron;Gene=RAB29/NM_001135663.1/0;CC=c.306+125dupT;VC=Intron;Gene=RAB29/NM_001135664.1/0;CC=c.162+125dupT;VC=Intron;Gene=RAB29/NM_003929.2/0;CC=c.378+125dupT;VC=Intron;DM=RAB29/Ras;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:G,GA:10:9:7:0:3,7:101,206:0.00,21.28:0.00,21.80:0.00,-0.52:0.00,1.00:0.00,1.00:0.00,0.80:60,60:31.3,25.0:0,0:0,0:28,24:122,127:11,18:-,NM_003929.2(RAB7L1) c.378+125_378+126insT:-,0.08:-,NOT_FOUND 1 205740782 . C . . NT END=205741623;NT GT ./. 1 205740829 rs150275500 T TC 43 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9493,TC/0.05072;NP=367;Gene=RAB29/NM_001135662.1/1;CC=c.197-49dupG;VC=Intron;Gene=RAB29/NM_001135663.1/0;CC=c.125-49dupG;VC=Intron;Gene=RAB29/NM_001135664.1/0;CC=c.-20-49dupG;VC=Intron;Gene=RAB29/NM_003929.2/0;CC=c.197-49dupG;VC=Intron;DM=RAB29/Ras;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TC:26:9:15:0:11,15:345,440:0.00,43.45:0.00,9.45:0.00,33.99:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.6,12.8:0,0:0,0:93,112:49,32:42,25:-,NM_003929.2(RAB7L1) c.197-49_197-48insG:-,0.05:-,0.063259 1 205741696 . C . . NT END=205743960;NT GT ./. 1 205741816 rs823142 A T 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1761,T/0.8239;PC=0.022;Gene=RAB29/NM_001135662.1/1;CC=c.125-121T>A;VC=Intron;Gene=RAB29/NM_001135663.1/0;CC=c.125-1035T>A;VC=Intron;Gene=RAB29/NM_001135664.1/0;CC=c.-92-121T>A;VC=Intron;Gene=RAB29/NM_003929.2/0;CC=c.125-121T>A;VC=Intron;DM=RAB29/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:261:29.91:0.00:29.91:1.00:0.00:1.00:60:39.0:0:0:68:82:28:NM_003929.2(RAB7L1) c.125-121T>A,NM_003929.2(RAB7L1) c.125-121T>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 205744085 . G . . NT END=205760660;NT GT ./. 1 205744138 rs708725 G T 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.8211,A/.,C/.,T/0.1789;Gene=RAB29/NM_001135662.1/1;CC=c.-54C>A;VC=5UTR;Gene=RAB29/NM_001135663.1/0;CC=c.-54C>A;VC=5UTR;Gene=RAB29/NM_001135664.1/0;CC=c.-93+263C>A;VC=Intron;Gene=RAB29/NM_003929.2/0;CC=c.-54C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:56:22:0:0:32,24:1069,743:0.00,69.14:0.00,16.85:0.00,52.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,40.1:0,0:0,0:88,103:54,42:27,23:-,NM_003929.2(RAB7L1) c.-54C>A:-,0.23:-,NOT_FOUND 1 205760847 . C . . NT END=205763997;NT GT ./. 1 205764147 . C . . NT END=205764471;NT GT ./. 1 205764433 rs56052552 A C 91 nt VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.9718,C/0.02815;Gene=SLC41A1/NM_173854.5/1;CC=c.1207+39T>G;VC=Intron;DM=SLC41A1/MgtE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:69:61:0:0:38,31:1161,969:0.00,91.06:0.00,67.99:0.00,23.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,39.8:0,0:0,0:43,44:101,100:20,25:-,NM_173854.4(SLC41A1) c.1207+39T>G:-,0.02:-,0.031447 1 205764607 . C . . NT END=205766051;NT GT ./. 1 205764640 rs823156 G A 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.3508,A/0.6492;Gene=SLC41A1/NM_173854.5/1;CC=c.1073-34C>T;VC=Intron;DM=SLC41A1/MgtE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:29:0:0:26,46:842,1537:76.16,0.00:19.18,0.00:56.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,2.7:0,0:0,0:92,106:54,40:32,27:NM_173854.4(SLC41A1) c.1073-34C>T,-:0.69,-:0.684146,- 1 205766132 . C . . NT END=205767031;NT GT ./. 1 205766159 rs5780304 CA C 54 nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=CA/0.2762,C/0.7238;DB;DBA=NA;PAF=CA/0.2762,C/0.7238;NP=3141;PC=0.003;Gene=SLC41A1/NM_173854.5/1;CC=c.993-29delT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,C:43:22:0:18:1,24,18:8,815,576:-0.11,0.00,53.73:-0.08,0.00,13.06:-0.03,0.00,40.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:87.0,10.2,7.7:0,0,0:0,0,0:55,95,106:96,49,44:0,18,26:-,NM_173854.4(SLC41A1) c.993-29delT:-,0.77:-,0.790495 1 205767180 . C . . NT END=205767796;NT GT ./. 1 205767885 rs708727 G A 145 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=G/0.8586,A/0.1414;PC=0.205;Gene=SLC41A1/NM_173854.5/1;CC=c.756C>T;ProtCh=p.N252=;VC=Silent;DM=SLC41A1/MgtE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:116:82:0:0:50,66:1552,2068:144.58,0.00:75.54,0.00:69.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,6.1:0,0:0,0:63,63:87,86:26,33:NM_173854.4(SLC41A1) c.756C>T (p.(=)),-:0.19,-:0.296786,- 1 205767944 . C . . NT END=205768084;NT GT ./. 1 205768230 . C . . NT END=205768886;NT GT ./. 1 205768959 . C . . NT END=205770080;NT GT ./. 1 205770189 . C . . NT END=205779197;NT GT ./. 1 205779570 . G . . NT END=205781867;NT GT ./. 1 205782301 . G . . NT END=205782377;NT GT ./. 1 205782397 rs61822602 G T 232 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=G/0.8626,T/0.1374 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:161:105:0:0:82,79:2624,2427:0.00,231.81:0.00,126.90:0.00,104.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.6,52.1:1,0:0,0:63,53:81,90:31,33:-,NM_173854.4(SLC41A1) c.-872-u236C>A:-,0.13:-,NOT_FOUND 1 205782509 rs56152218 C T 676 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=182;DB;DBA=NA;PAF=C/0.5124,T/0.4876 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:182:134:0:0:182:5895:676.16:404.49:271.67:1.00:1.00:1.00:60:51.6:0:0:66:81:37:NM_173854.4(SLC41A1) c.-872-u348G>A,NM_173854.4(SLC41A1) c.-872-u348G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 1 205782718 rs9438393 A G 374 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=234;DB;DBA=NA;PAF=A/0.8592,G/0.1408 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:234:146:0:0:117,116,1:3610,3884,9:0.00,373.55,-0.17:0.00,186.79,-0.05:0.00,186.76,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.4,43.5,70.0:0,0,0:0,0,0:80,70,31:70,80,120:32,31,0:-,NM_173854.4(SLC41A1) c.-872-u557T>C:-,0.2:-,NOT_FOUND 1 205783094 . A . . NT END=205797747;NT GT ./. 1 205797413 rs823086 G T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5122,T/0.4878;Gene=PM20D1/NM_152491.4/1;CC=c.*335C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:41.0:0:0:85:66:46:NM_152491.4(PM20D1) c.*335C>A,NM_152491.4(PM20D1) c.*335C>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 205797872 . C . . NT END=205799407;NT GT ./. 1 205798033 rs823085 G A 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2167,A/0.7833;Gene=PM20D1/NM_152491.4/1;CC=c.1386-162C>T;VC=Intron;DM=PM20D1/Peptidase_M20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:405:46.66:0.00:46.66:1.00:0.00:1.00:60:34.8:0:0:65:86:44:NM_152491.4(PM20D1) c.1386-162C>T,NM_152491.4(PM20D1) c.1386-162C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 205799508 . C . . NT END=205801725;NT GT ./. 1 205801872 rs1361754 A G 259 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.7183,G/0.2817;PC=0.853;Gene=PM20D1/NM_152491.4/1;CC=c.1139T>C;ProtCh=p.I380T;VC=Missense;DM=PM20D1/Peptidase_M20;DM=PM20D1/M20_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:A,G:70:43:0:0:1,69:10,2281:0.00,259.21:0.00,107.32:0.00,151.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:71.0,46.0:0,0:0,0:34,94:116,52:0,30:NM_152491.4(PM20D1) c.1139T>C (p.Ile380Thr),NM_152491.4(PM20D1) c.1139T>C (p.Ile380Thr):0.33,0.33:0.481855,0.481855 1 205801895 . C . . NT END=205809379;NT GT ./. 1 205809452 . C . . NT END=205810938;NT GT ./. 1 205809642 rs10900525 G C 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5182,C/0.4818;Gene=PM20D1/NM_152491.4/1;CC=c.1045-191C>G;VC=Intron;DM=PM20D1/Peptidase_M20;DM=PM20D1/M20_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:308:36.02:0.00:36.02:1.00:0.00:1.00:60:30.7:0:0:128:23:16:NM_152491.4(PM20D1) c.1045-191C>G,NM_152491.4(PM20D1) c.1045-191C>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 205810947 rs11240573 C T 50 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.8818,T/0.1182;PC=1.000;Gene=PM20D1/NM_152491.4/1;CC=c.1036G>A;ProtCh=p.G346R;VC=Missense;DM=PM20D1/Peptidase_M20;DM=PM20D1/M20_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:32:0:0:23,17:758,539:0.00,50.14:0.00,32.94:0.00,17.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,32.9:0,0:0,0:46,66:100,84:21,16:-,NM_152491.4(PM20D1) c.1036G>A (p.Gly346Arg):-,0.11:-,0.07868 1 205811018 . C . . NT END=205811281;NT GT ./. 1 205811344 . C . . NT END=205811803;NT GT ./. 1 205811880 . C . . NT END=205812794;NT GT ./. 1 205812614 rs960603 C T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7702,T/0.2298;Gene=PM20D1/NM_152491.4/1;CC=c.827+181G>A;VC=Intron;DM=PM20D1/Peptidase_M20;DM=PM20D1/M20_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,T:14:14:0:0:9,5:281,144:0.00,12.81:0.00,12.81:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:2.8,61.0:0,0:0,0:40,38:110,113:31,33:-,NM_152491.4(PM20D1) c.827+181G>A:-,0.28:-,NOT_FOUND 1 205812912 rs7518979 A G 118 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.7454,G/0.2546;PC=0.999;Gene=PM20D1/NM_152491.4/1;CC=c.710T>C;ProtCh=p.I237T;VC=Missense;DM=PM20D1/Peptidase_M20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:45:0:0:36,37:1151,1228:0.00,118.45:0.00,50.45:0.00,68.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,40.0:0,0:0,0:94,76:54,64:39,40:-,NM_152491.4(PM20D1) c.710T>C (p.Ile237Thr):-,0.27:-,0.208673 1 205812915 . C . . NT END=205813214;NT GT ./. 1 205813346 . C . . NT END=205813938;NT GT ./. 1 205814026 . C . . NT END=205814452;NT GT ./. 1 205814497 rs1891460 T C 257 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.1615,C/0.8385;PC=1.000;Gene=PM20D1/NM_152491.4/1;CC=c.445A>G;ProtCh=p.I149V;VC=Missense;DM=PM20D1/Peptidase_M20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:60:0:0:72:2234:257.42:172.89:84.52:1.00:1.00:1.00:60:35.3:0:0:66:81:35:NM_152491.4(PM20D1) c.445A>G (p.Ile149Val),NM_152491.4(PM20D1) c.445A>G (p.Ile149Val):0.85,0.85:0.924958,0.924958 1 205814686 . C . . NT END=205817012;NT GT ./. 1 205816798 rs12756994 G A 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1562,A/0.8438;Gene=PM20D1/NM_152491.4/1;CC=c.256+215C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:230:26.34:26.34:0.00:1.00:1.00:0.00:56:32.9:0:0:37:114:13:NM_152491.4(PM20D1) c.256+215C>T,NM_152491.4(PM20D1) c.256+215C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 205816923 rs11240576 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4409,A/0.5591;NP=1713;Gene=PM20D1/NM_152491.4/1;CC=c.256+90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:10:9:0:0:3,7:91,202:7.88,0.00:8.11,0.00:-0.23,0.00:0.62,0.00:0.94,0.00:0.59,0.00:42,50:35.3,4.4:0,0:0,0:96,13:55,137:17,11:NM_152491.4(PM20D1) c.256+90C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 205817100 . C . . NT END=205819031;NT GT ./. 1 205819201 . G . . NT END=205884019;NT GT ./. 1 205823182 rs6667995 C A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2414,A/0.7586;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:93.0:0:0:103:37:19:NM_152491.4(PM20D1) c.-76-u3906G>T,NM_152491.4(PM20D1) c.-76-u3906G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 205884062 rs9438438 T C 250 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=NA;Gene=SLC26A9/NM_052934.3/0;CC=c.*423A>G;VC=3UTR;Gene=SLC26A9/NM_134325.2/1;CC=c.2622A>G;ProtCh=p.P874=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:154:125:0:0:1,79,74:11,2588,2280:-0.11,250.26,0.00:-0.05,170.65,0.00:-0.07,79.60,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:56.0,45.9,13.4:0,0,0:0,0,0:140,56,45:11,83,104:0,27,23:NM_134325.2(SLC26A9) c.2622A>G (p.(=)),-:0.07,-:0.112717,- 1 205884274 rs6669481 T C 272 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=170;DB;DBA=NA;PAF=T/0.8458,C/0.1542;Gene=SLC26A9/NM_052934.3/0;CC=c.*211A>G;VC=3UTR;Gene=SLC26A9/NM_134325.2/1;CC=c.2410A>G;ProtCh=p.R804G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:170:104:0:0:92,78:2796,2514:272.41,0.00:116.95,0.00:155.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,11.7:0,0:0,0:70,90:69,55:36,35:NM_134325.2(SLC26A9) c.2410A>G (p.Arg804Gly),-:0.15,-:0.19937,- 1 205884533 . C . . NT END=205886410;NT GT ./. 1 205884646 rs61814952 C CTG 43 rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.9491,G/0.05092;NP=1;NP=15;NP=48;Gene=SLC26A9/NM_052934.3/0;CC=c.2329-115_2329-114insCA;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2329-115_2329-114insCA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CTG,D:29:7:15:2:1,12,15,1:11,405,440,54:0.15,0.00,42.99,1.53:-0.04,0.00,6.15,-0.04:0.19,0.00,36.84,1.57:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:34.0,9.7,18.5,13.0:0,0,0,1:0,0,0,0:82,123,97,70:69,28,54,80:0,9,14,38:-,NM_134325.2(SLC26A9) c.2329-115_2329-114insCA:-,NOT_FOUND:-,NOT_FOUND 1 205884677 rs59214290 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=6;Gene=SLC26A9/NM_052934.3/0;CC=c.2329-145G>A;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2329-145G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:26:3:0:0:23,3:650,96:0.00,7.00:0.00,-0.11:0.00,7.10:0.00,0.45:0.00,0.36:0.00,0.89:60,60:15.2,50.7:0,0:0,0:113,145:38,2:30,5:-,NM_134325.2(SLC26A9) c.2329-145G>A:-,NOT_FOUND:-,NOT_FOUND 1 205886169 rs60716530 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9111,C/0.08886;Gene=SLC26A9/NM_052934.3/0;CC=c.2328+242A>G;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2328+242A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:8:8:0:0:5,3:138,101:13.86,0.00:13.86,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:52.0,24.0:0,0:0,0:30,11:114,140:18,1:NM_134325.2(SLC26A9) c.2328+242A>G,-:0.08,-:NOT_FOUND,- 1 205886225 rs575591582 T TA 8 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.010;Gene=SLC26A9/NM_052934.3/0;CC=c.2328+185_2328+186insT;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2328+185_2328+186insT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TA,D:11:12:4:1:7,3,1:203,121,31:0.00,7.76,2.24:0.00,7.76,2.24:0.00,0.00,0.00:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.00,0.00:60,60,60:38.7,75.7,36.0:0,1,0:0,0,0:67,57,66:84,94,85:37,19,0:-,NM_134325.2(SLC26A9) c.2328+185_2328+186insT:-,NOT_FOUND:-,NOT_FOUND 1 205886243 rs60644810 A G 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9359,G/0.0641;PC=0.004;Gene=SLC26A9/NM_052934.3/0;CC=c.2328+168T>C;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2328+168T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:11:11:0:1:4,7:122,213:0.00,21.51:0.00,21.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.5,58.4:0,0:0,0:74,67:76,84:10,35:-,NM_134325.2(SLC26A9) c.2328+168T>C:-,0.07:-,NOT_FOUND 1 205886258 rs57012703 A AG 28 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=412;PC=0.003;Gene=SLC26A9/NM_052934.3/0;CC=c.2328+152_2328+153insC;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2328+152_2328+153insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AG:18:18:9:0:8,1,9:244,33,286:0.00,2.33,27.79:0.00,2.33,27.79:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:22.9,68.0,50.7:1,0,0:0,0,0:61,4,47:88,146,104:44,0,34:-,NM_134325.2(SLC26A9) c.2328+152_2328+153insC:-,0.07:-,NOT_FOUND 1 205886376 rs35694044 T A 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.9357,A/0.0643;Gene=SLC26A9/NM_052934.3/0;CC=c.2328+35A>T;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2328+35A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:64:56:0:0:31,33:1015,1086:97.03,0.00:61.19,0.00:35.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,6.5:0,0:0,0:47,46:95,99:24,29:NM_134325.2(SLC26A9) c.2328+35A>T,-:0.07,-:0.100031,- 1 205886483 . C . . NT END=205887967;NT GT ./. 1 205887981 rs16856462 T C 185 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.9237,C/0.07628;Gene=SLC26A9/NM_052934.3/0;CC=c.2243A>G;ProtCh=p.H748R;VC=Missense;Gene=SLC26A9/NM_134325.2/1;CC=c.2243A>G;ProtCh=p.H748R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:142:112:0:0:62,80:1974,2656:184.67,0.00:116.24,0.00:68.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,4.7:0,0:0,0:68,72:73,71:36,24:NM_134325.2(SLC26A9) c.2243A>G (p.His748Arg),-:0.08,-:0.11241,- 1 205888114 . C . . NT END=205889303;NT GT ./. 1 205888272 rs7366689 T C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.09585,C/0.9042;PC=0.001;Gene=SLC26A9/NM_052934.3/0;CC=c.2111-159A>G;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2111-159A>G;VC=Intron;DM=SLC26A9/STAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:8,9:272,288:25.91,0.00:0.00,0.00:25.91,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:61.6,10.2:0,0:0,0:92,116:59,35:12,28:NM_134325.2(SLC26A9) c.2111-159A>G,-:0.9,-:NOT_FOUND,- 1 205888323 rs16856468 A G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9357,G/0.0643;PC=0.006;Gene=SLC26A9/NM_052934.3/0;CC=c.2111-210T>C;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2111-210T>C;VC=Intron;DM=SLC26A9/STAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G:10:0:0:0:5,5:172,156:0.00,14.97:0.00,0.00:0.00,14.97:0.00,0.95:0.00,0.00:0.00,0.95:60,60:0.0,66.6:0,0:0,0:112,133:39,18:35,5:-,NM_134325.2(SLC26A9) c.2111-210T>C:-,0.07:-,NOT_FOUND 1 205889329 rs16856470 C T 109 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.9525,T/0.04752;PC=1.000;Gene=SLC26A9/NM_052934.3/0;CC=c.2085G>A;ProtCh=p.V695=;VC=Silent;Gene=SLC26A9/NM_134325.2/1;CC=c.2085G>A;ProtCh=p.V695=;VC=Silent;DM=SLC26A9/STAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:53:0:0:32,35:1102,1121:0.00,108.60:0.00,67.19:0.00,41.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,40.2:0,0:0,0:59,71:73,80:25,37:-,NM_134325.2(SLC26A9) c.2085G>A (p.(=)):-,0.05:-,0.079117 1 205889359 . C . . NT END=205890693;NT GT ./. 1 205889532 rs16856473 G A 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9385,A/0.0615;PC=0.984;Gene=SLC26A9/NM_052934.3/0;CC=c.2056-174C>T;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2056-174C>T;VC=Intron;DM=SLC26A9/STAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,G:14:0:0:0:13,1:418,33:46.42,0.00:0.00,0.00:46.42,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.1,0.0:0,0:0,0:68,114:83,37:38,0:NM_134325.2(SLC26A9) c.2056-174C>T,NM_134325.2(SLC26A9) c.2056-174C>T:0.06,0.06:NOT_FOUND,NOT_FOUND 1 205889691 rs6689422 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SLC26A9/NM_052934.3/0;CC=c.2056-333A>G;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2056-333A>G;VC=Intron;DM=SLC26A9/STAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:121:14.01:0.00:14.01:1.00:0.00:1.00:60:38.2:0:0:85:65:8:NM_134325.2(SLC26A9) c.2056-333A>G,NM_134325.2(SLC26A9) c.2056-333A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 1 205890679 rs34323091 T C 180 nt VT=SNV;PN=T;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.08586,C/0.9141;DB;DBA=NA;PAF=NA;Gene=SLC26A9/NM_052934.3/0;CC=c.2055+15A>G;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.2055+15A>G;VC=Intron;DM=SLC26A9/STAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:122:110:0:0:57,1,64:1887,10,1935:179.57,-0.14,0.00:135.12,-0.08,0.00:44.46,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.7,10.0,12.1:0,0,0:0,0,0:71,55,58:76,95,85:29,0,26:NM_134325.2(SLC26A9) c.2055+15A>G,-:0.9,-:0.904275,- 1 205890976 . C . . NT END=205892209;NT GT ./. 1 205892324 . C . . NT END=205892462;NT GT ./. 1 205892556 . C . . NT END=205892671;NT GT ./. 1 205892742 . C . . NT END=205893510;NT GT ./. 1 205893618 . C . . NT END=205895662;NT GT ./. 1 205893753 rs397790611 AT A 32 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=AT/0.7077,A/0.2923;DB;DBA=NA;PAF=AT/0.7077,A/0.2923;NP=233;PC=0.027;Gene=SLC26A9/NM_052934.3/0;CC=c.1390-137delA;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.1390-137delA;VC=Intron;DM=SLC26A9/Sulfate_transp;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:16:0:0:10:6,10:199,314:0.00,31.57:0.00,0.00:0.00,31.57:0.00,1.00:0.00,0.00:0.00,1.00:60,70:7.3,0.9:0,0:0,0:90,95:61,56:39,25:-,NM_134325.2(SLC26A9) c.1390-137delA:-,NOT_FOUND:-,NOT_FOUND 1 205895759 . C . . NT END=205896338;NT GT ./. 1 205896235 rs11240594 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.7117,A/0.2883;Gene=SLC26A9/NM_052934.3/0;CC=c.1293+104C>T;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.1293+104C>T;VC=Intron;DM=SLC26A9/Sulfate_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:10,8:324,239:31.81,0.00:31.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.4,11.1:0,0:0,0:78,52:72,98:31,11:NM_134325.2(SLC26A9) c.1293+104C>T,-:0.29,-:NOT_FOUND,- 1 205896417 . C . . NT END=205896619;NT GT ./. 1 205896475 rs7366204 C T 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.1294,T/0.8706;PC=0.002;Gene=SLC26A9/NM_052934.3/0;CC=c.1216-59G>A;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.1216-59G>A;VC=Intron;DM=SLC26A9/Sulfate_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:35:0:0:27,27:880,857:0.00,82.31:0.00,48.68:0.00,33.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,42.4:0,0:0,0:98,88:53,62:28,28:-,NM_134325.2(SLC26A9) c.1216-59G>A:-,0.88:-,NOT_FOUND 1 205896647 rs34803033 A G 117 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.9241,G/0.07588;PC=0.034;Gene=SLC26A9/NM_052934.3/0;CC=c.1188T>C;ProtCh=p.A396=;VC=Silent;Gene=SLC26A9/NM_134325.2/1;CC=c.1188T>C;ProtCh=p.A396=;VC=Silent;DM=SLC26A9/Sulfate_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:80:49:0:0:40,39,1:1335,1224,11:0.00,117.23,-0.06:0.00,50.10,-0.10:0.00,67.14,0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.2,36.7,96.0:0,0,0:0,0,0:62,59,63:84,92,88:30,31,0:-,NM_134325.2(SLC26A9) c.1188T>C (p.(=)):-,0.08:-,0.108719 1 205896734 . C . . NT END=205897029;NT GT ./. 1 205897178 . C . . NT END=205897954;NT GT ./. 1 205898038 . C . . NT END=205898331;NT GT ./. 1 205898485 . C . . NT END=205899019;NT GT ./. 1 205899185 . C . . NT END=205900987;NT GT ./. 1 205901000 rs33943971 G A 250 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=G/0.9261,A/0.07388;Gene=SLC26A9/NM_052934.3/0;CC=c.540C>T;ProtCh=p.T180=;VC=Silent;Gene=SLC26A9/NM_134325.2/1;CC=c.540C>T;ProtCh=p.T180=;VC=Silent;DM=SLC26A9/Sulfate_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:155:129:0:0:78,76,1:2595,2317,11:250.34,0.00,-0.12:163.69,0.00,-0.06:86.66,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,5.8,61.0:0,0,0:0,0,0:60,57,60:89,87,89:27,26,0:NM_134325.2(SLC26A9) c.540C>T (p.(=)),-:0.08,-:0.106182,- 1 205901164 . C . . NT END=205901829;NT GT ./. 1 205901788 rs3811423 G T 63 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.5459,T/0.4541;Gene=SLC26A9/NM_052934.3/0;CC=c.376+42C>A;VC=Intron;Gene=SLC26A9/NM_134325.2/1;CC=c.376+42C>A;VC=Intron;DM=SLC26A9/Sulfate_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:39:37:0:0:17,22:559,646:0.00,63.42:0.00,46.22:0.00,17.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,38.2:0,0:0,0:33,38:112,109:22,26:-,NM_134325.2(SLC26A9) c.376+42C>A:-,0.46:-,0.377518 1 205901941 . C . . NT END=205902072;NT GT ./. 1 205902213 . C . . NT END=205904823;NT GT ./. 1 205904949 . A . . NT END=206127986;NT GT ./. 1 206128015 . g . . NT END=206135292;NT GT ./. 1 206135360 . G . . NT END=206139304;NT GT ./. 1 206139457 . G . . NT END=206141445;NT GT ./. 1 206141524 . G . . NT END=206145453;NT GT ./. 1 206145579 . G . . NT END=206153956;NT GT ./. 1 206154052 . A . . NT END=206224440;NT GT ./. 1 206225381 . G . . NT END=206230807;NT GT ./. 1 206231143 . G . . NT END=206239378;NT GT ./. 1 206239580 . C . . NT END=206240133;NT GT ./. 1 206240196 . C . . NT END=206241532;NT GT ./. 1 206241677 . C . . NT END=206243149;NT GT ./. 1 206243251 . C . . NT END=206243491;NT GT ./. 1 206243599 . C . . NT END=206257681;NT GT ./. 1 206243870 rs28689766 G T 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5242,C/0.4758;Gene=C1orf186/NM_001007544.3/1;CC=c.-96-272C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:176:20.42:0.00:20.42:1.00:0.00:1.00:60:31.7:0:0:109:41:6:NM_001007544.1(C1orf186) c.-96-272C>A,NM_001007544.1(C1orf186) c.-96-272C>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 206257836 . A . . NT END=206317576;NT GT ./. 1 206317645 . G . . NT END=206318310;NT GT ./. 1 206318468 . G . . NT END=206319100;NT GT ./. 1 206319219 . G . . NT END=206320200;NT GT ./. 1 206320320 . G . . NT END=206325237;NT GT ./. 1 206325438 . G . . NT END=206327473;NT GT ./. 1 206327163 rs28505779 C T 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9243,A/0.07568,C/.,T/.;Gene=CTSE/NM_001317331/0;CC=c.438-311C>T;VC=Intron;Gene=CTSE/NM_001910.3/1;CC=c.663-311C>T;VC=Intron;Gene=CTSE/NM_148964.2/0;CC=c.663-311C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:8:8:0:0:5,3:148,100:0.00,9.15:0.00,9.15:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:22.6,44.0:0,0:0,0:66,67:84,83:34,46:-,NM_001910.3(CTSE) c.663-311C>T:-,0.06:-,NOT_FOUND 1 206327597 . G . . NT END=206328718;NT GT ./. 1 206327801 rs28602403 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7272,C/0.2728;Gene=CTSE/NM_001317331/0;CC=c.560+205A>G;VC=Intron;Gene=CTSE/NM_001910.3/1;CC=c.785+205A>G;VC=Intron;Gene=CTSE/NM_148964.2/0;CC=c.785+205A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:13:0:0:0:8,5:234,171:0.00,15.74:0.00,0.00:0.00,15.74:0.00,0.91:0.00,0.00:0.00,0.91:60,60:29.1,34.2:0,0:0,0:114,91:33,60:25,15:-,NM_001910.3(CTSE) c.785+205A>G:-,0.26:-,NOT_FOUND 1 206328861 . G . . NT END=206328961;NT GT ./. 1 206329061 . G . . NT END=206331020;NT GT ./. 1 206331229 . A . . NT END=206646570;NT GT ./. 1 206506515 . G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:7:7:0:0:3,4:90,78:8.39,0.00:8.39,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:40,40:100.0,24.0:0,0:0,0:33,31:116,119:18,24:chr1 g.206506514G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 206506535 rs201447344 G C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,G:7:7:0:0:3,4:92,100:8.60,0.00:8.60,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:40,40:100.0,24.0:0,0:0,0:53,51:96,99:18,24:chr1 g.206506534G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 206506599 rs200737698 C T 8 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1605 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,T:17:17:0:0:14,3:432,97:0.00,7.70:0.00,7.70:0.00,0.00:0.00,0.53:0.00,0.53:0.00,0.00:53,15:8.4,81.0:0,0:0,0:24,99:126,52:24,18:-,chr1 g.206506598C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 206506805 rs141380001 C T 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2052;PC=0.956 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:11:0:0:23:761:87.07:33.29:53.78:1.00:1.00:1.00:45:36.0:0:0:72:79:41:chr1 g.206506804C>T (intergenic),chr1 g.206506804C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 206516159 rs199928990 C T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1421 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:20:0:0:15,9:474,284:0.00,25.80:0.00,26.62:0.00,-0.82:0.00,1.00:0.00,1.00:0.00,0.85:40,40:8.3,60.7:0,0:0,0:43,31:107,120:19,17:-,NM_015326.2(SRGAP2) c.-72-u38C>T:-,NOT_FOUND:-,NOT_FOUND 1 206516261 rs201036189 C T 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=1691;PC=1.000;Gene=SRGAP2C/NM_001271872.1/1;CC=c.62C>T;ProtCh=p.A21V;VC=Missense;Gene=SRGAP2/NM_001300952.1/0;CC=c.62C>T;ProtCh=p.A21V;VC=Missense;Gene=SRGAP2/NM_001170637.3/0;CC=c.62C>T;ProtCh=p.A21V;VC=Missense;Gene=SRGAP2/NM_015326.4/1;CC=c.62C>T;ProtCh=p.A21V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:53:39:0:0:1,31,21:11,945,644:-0.04,0.00,59.21:-0.14,0.00,43.10:0.10,0.00,16.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,50,51:47.0,14.8,47.2:0,0,0:0,0,0:76,77,56:75,72,95:0,34,40:-,NM_015326.2(SRGAP2) c.322C>T (p.Arg108Trp):-,NOT_FOUND:-,NOT_FOUND 1 206565036 rs141327298 A C 10 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=10;Gene=SRGAP2C/NM_001271872.1/1;CC=c.227-1010A>C;VC=Intron;Gene=SRGAP2/NM_001300952.1/0;CC=c.227-1010A>C;VC=Intron;Gene=SRGAP2/NM_001170637.3/0;CC=c.227-1010A>C;VC=Intron;Gene=SRGAP2/NM_015326.4/1;CC=c.227-1010A>C;VC=Intron;Gene=SRGAP2D/NR_120535.1/0;VC=NonCoding;DM=SRGAP2/FCH;DM=SRGAP2/FCH;DM=SRGAP2/FCH;DM=SRGAP2C/FCH;DM=SRGAP2/SH3_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,C:7:5:0:0:4,3:140,105:0.00,9.86:0.00,1.00:0.00,8.85:0.00,0.69:0.00,0.93:0.00,0.89:54,53:0.0,35.0:0,0:0,0:60,121:85,30:2,7:-,NM_015326.2(SRGAP2) c.487-1010A>C:-,NOT_FOUND:-,NOT_FOUND 1 206646311 rs2274902 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6202,T/0.3798;Gene=IKBKE/NM_001193321.1/0;CC=c.-168-1363C>T;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.-32-228C>T;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.-32-228C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:167:19.08:19.08:0.00:1.00:1.00:0.00:60:71.6:0:0:25:124:17:NM_014002.3(IKBKE) c.-32-228C>T,NM_014002.3(IKBKE) c.-32-228C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 1 206646427 rs1930437 C A 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6232,A/0.3768;Gene=IKBKE/NM_001193321.1/0;CC=c.-168-1247C>A;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.-32-112C>A;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.-32-112C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:0:14:426:49.25:49.25:0.00:1.00:1.00:0.00:60:39.1:0:0:62:88:27:NM_014002.3(IKBKE) c.-32-112C>A,NM_014002.3(IKBKE) c.-32-112C>A:0.38,0.38:NOT_FOUND,NOT_FOUND 1 206646658 . G . . NT END=206647673;NT GT ./. 1 206647742 rs1539242 A G 250 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.000599,A/0.9994;NP=3472;PC=1.000;Gene=IKBKE/NM_001193321.1/0;CC=c.-100A>G;VC=5UTR;Gene=IKBKE/NM_001193322.1/0;CC=c.156A>G;ProtCh=p.Q52=;VC=Silent;Gene=IKBKE/NM_014002.3/1;CC=c.156A>G;ProtCh=p.Q52=;VC=Silent;DM=IKBKE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:56:0:0:66:2190:250.40:152.99:97.41:1.00:1.00:1.00:60:70.1:0:0:77:72:36:NM_014002.3(IKBKE) c.=,NM_014002.3(IKBKE) c.=:1,1:0.998385,0.998385 1 206647787 rs1539243 T C 251 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.1008,C/0.8992;PC=0.001;Gene=IKBKE/NM_001193321.1/0;CC=c.-55T>C;VC=5UTR;Gene=IKBKE/NM_001193322.1/0;CC=c.201T>C;ProtCh=p.I67=;VC=Silent;Gene=IKBKE/NM_014002.3/1;CC=c.201T>C;ProtCh=p.I67=;VC=Silent;DM=IKBKE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:54:0:0:67:2190:250.78:138.67:112.11:1.00:1.00:1.00:60:68.0:0:0:85:61:33:NM_014002.3(IKBKE) c.201T>C (p.(=)),NM_014002.3(IKBKE) c.201T>C (p.(=)):0.89,0.89:0.845917,0.845917 1 206647815 . G . . NT END=206648207;NT GT ./. 1 206648338 . G . . NT END=206649523;NT GT ./. 1 206648378 rs1059704 G A 286 nt VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.4916,A/0.5084;Gene=IKBKE/NM_001193321.1/0;CC=c.103+41G>A;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.358+41G>A;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.358+41G>A;VC=Intron;DM=IKBKE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:75:37:0:0:74,1:2513,5:286.13,0.03:101.05,0.00:185.08,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,91.0:0,0:0,0:95,63:49,74:25,0:NM_014002.3(IKBKE) c.358+41G>A,NM_014002.3(IKBKE) c.358+41G>A:0.52,0.52:0.597263,0.597263 1 206649706 . G . . NT END=206650020;NT GT ./. 1 206650182 . G . . NT END=206651091;NT GT ./. 1 206650852 rs80170588 C CA 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.04393,CA/0.9561,CAGG/.;DB;DBA=NA;PAF=NA;NP=160;Gene=IKBKE/NM_001193321.1/0;CC=c.447-240_447-239insA;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.702-240_702-239insA;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.702-240_702-239insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CA:4:4:4:0:4:119:13.81:13.81:0.00:1.00:1.00:0.00:60:6.2:0:0:9:140:5:NM_014002.3(IKBKE) c.702-240_702-239insA,NM_014002.3(IKBKE) c.702-240_702-239insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 206651203 . G . . NT END=206651502;NT GT ./. 1 206651683 . G . . NT END=206652285;NT GT ./. 1 206652477 . G . . NT END=206653212;NT GT ./. 1 206653278 . G . . NT END=206653364;NT GT ./. 1 206653457 . G . . NT END=206653789;NT GT ./. 1 206653877 . G . . NT END=206658333;NT GT ./. 1 206658410 . G . . NT END=206658530;NT GT ./. 1 206658644 . G . . NT END=206661250;NT GT ./. 1 206661328 . G . . NT END=206664151;NT GT ./. 1 206664192 . G . . NT END=206664980;NT GT ./. 1 206664396 rs7552033 A T 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.05012,T/0.9499;Gene=IKBKE/NM_001193321.1/0;CC=c.1478+205A>T;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.1733+205A>T;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.1733+205A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:257:29.51:0.00:29.51:1.00:0.00:1.00:60:58.1:0:0:121:29:26:NM_014002.3(IKBKE) c.1733+205A>T,NM_014002.3(IKBKE) c.1733+205A>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 206664407 rs10863430 T G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1623,G/0.8377;Gene=IKBKE/NM_001193321.1/0;CC=c.1478+216T>G;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.1733+216T>G;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.1733+216T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:167:19.08:0.00:19.08:1.00:0.00:1.00:60:73.8:0:0:107:42:19:NM_014002.3(IKBKE) c.1733+216T>G,NM_014002.3(IKBKE) c.1733+216T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 206665083 . G . . NT END=206666355;NT GT ./. 1 206666453 . G . . NT END=206666598;NT GT ./. 1 206666712 . G . . NT END=206667252;NT GT ./. 1 206667325 . G . . NT END=206669444;NT GT ./. 1 206667441 rs2184030 G A 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=IKBKE/NM_001193321.1/0;CC=c.1862+117G>A;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.*30+117G>A;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.2117+117G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:0:0:0:20:617:71.19:0.00:71.19:1.00:0.00:1.00:60:38.1:0:0:102:49:26:NM_014002.3(IKBKE) c.2117+117G>A,NM_014002.3(IKBKE) c.2117+117G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 1 206669136 rs944774 C A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5709,A/0.4291;Gene=IKBKE/NM_001193321.1/0;CC=c.1863-309C>A;VC=Intron;Gene=IKBKE/NM_001193322.1/0;CC=c.*31-309C>A;VC=Intron;Gene=IKBKE/NM_014002.3/1;CC=c.2118-309C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:175:19.88:19.88:0.00:1.00:1.00:0.00:60:37.0:0:0:63:87:12:NM_014002.3(IKBKE) c.2118-309C>A,NM_014002.3(IKBKE) c.2118-309C>A:0.41,0.41:NOT_FOUND,NOT_FOUND 1 206669479 . G . . NT END=206680935;NT GT ./. 1 206677765 rs6693843 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5637,A/0.4363 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:106:12.47:12.47:0.00:1.00:1.00:0.00:60:29.0:0:0:41:109:4:NM_182663.2(RASSF5) c.-57-u3114G>A,NM_182663.2(RASSF5) c.-57-u3114G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 206680983 rs2095124 A C 531 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.04633,C/0.9537;PC=0.125;Gene=RASSF5/NM_182663.3/1;CC=c.48A>C;ProtCh=p.L16=;VC=Silent;Gene=RASSF5/NM_182664.3/0;CC=c.48A>C;ProtCh=p.L16=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:139:110:0:0:139:4649:531.09:316.78:214.32:1.00:1.00:1.00:60:42.8:0:0:79:62:36:NM_182663.2(RASSF5) c.48A>C (p.(=)),NM_182663.2(RASSF5) c.48A>C (p.(=)):0.92,0.92:0.888293,0.888293 1 206681393 . G . . NT END=206711500;NT GT ./. 1 206711623 . G . . NT END=206730491;NT GT ./. 1 206730641 rs71633591 C A 789 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=214;DB;DBA=NA;PAF=C/0.7712,A/0.2288;Gene=RASSF5/NM_182663.3/1;CC=c.579+19019C>A;VC=Intron;Gene=RASSF5/NM_182664.3/0;CC=c.579+19019C>A;VC=Intron;Gene=RASSF5/NM_182665.3/0;CC=c.-261C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:214:135:0:0:212,1,1:6913,32,10:789.26,0.00,0.05:349.95,0.00,0.05:439.31,0.00,-0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:61.4,7.0,151.0:0,0,0:0,0,0:83,115,72:60,36,78:29,0,0:NM_182663.2(RASSF5) c.579+19019C>A,NM_182663.2(RASSF5) c.579+19019C>A:0.23,0.23:NOT_FOUND,NOT_FOUND 1 206730691 rs67223538 G C 639 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=183;DB;DBA=NA;PAF=G/0.7704,C/0.2296;Gene=RASSF5/NM_182663.3/1;CC=c.579+19069G>C;VC=Intron;Gene=RASSF5/NM_182664.3/0;CC=c.579+19069G>C;VC=Intron;Gene=RASSF5/NM_182665.3/0;CC=c.-211G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:183:114:0:0:1,182:11,5531:0.07,638.95:0.00,294.19:0.07,344.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:94.0,62.6:0,0:0,0:108,84:43,65:0,40:NM_182663.2(RASSF5) c.579+19069G>C,NM_182663.2(RASSF5) c.579+19069G>C:0.22,0.22:NOT_FOUND,NOT_FOUND 1 206731022 . G . . NT END=206756600;NT GT ./. 1 206756712 . G . . NT END=206757718;NT GT ./. 1 206758017 . G . . NT END=206758511;NT GT ./. 1 206758077 rs4418597 T A 151 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.2726,T/0.7274;Gene=RASSF5/NM_182663.3/1;CC=c.988+61T>A;VC=Intron;Gene=RASSF5/NM_182664.3/0;CC=c.988+61T>A;VC=Intron;Gene=RASSF5/NM_182665.3/0;CC=c.529+61T>A;VC=Intron;DM=RASSF5/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A,C:45:7:0:0:44,1:1302,10:150.59,0.20:16.30,0.00:134.29,0.20:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,106.0:0,0:0,0:106,51:41,100:26,0:NM_182663.2(RASSF5) c.988+61T>A,NM_182663.2(RASSF5) c.988+61T>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 206758628 . G . . NT END=206760157;NT GT ./. 1 206759975 rs10779488 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7558,A/0.2442;PC=0.001;Gene=RASSF5/NM_182663.3/1;CC=c.1105-183G>A;VC=Intron;Gene=RASSF5/NM_182664.3/0;CC=c.989-183G>A;VC=Intron;Gene=RASSF5/NM_182665.3/0;CC=c.646-183G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:260:29.81:29.81:0.00:1.00:1.00:0.00:60:38.5:0:0:30:121:15:NM_182663.2(RASSF5) c.1105-183G>A,NM_182663.2(RASSF5) c.1105-183G>A:0.25,0.25:NOT_FOUND,NOT_FOUND 1 206760363 . t . . NT END=206765106;NT GT ./. 1 206760474 rs7541244 T C 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.2236,T/0.7764;Gene=RASSF5/NM_182663.3/1;CC=c.*164T>C;VC=3UTR;Gene=RASSF5/NM_182664.3/0;CC=c.*294T>C;VC=3UTR;Gene=RASSF5/NM_182665.3/0;CC=c.*164T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:0:0:0:23:641:74.89:0.00:74.89:1.00:0.00:1.00:60:37.4:0:0:119:26:24:NM_182663.2(RASSF5) c.*164T>C,NM_182663.2(RASSF5) c.*164T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 206765178 . C . . NT END=206766967;NT GT ./. 1 206766799 rs59286399 GGAGA G 8 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;Gene=EIF2D/NM_001201478.1/0;CC=c.1312+165_1312+168delTCTC;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.1684+165_1684+168delTCTC;VC=Intron;DM=EIF2D/SUI1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:GGAGA,G:18:19:0:7:12,6:393,116:0.00,7.89:0.00,7.89:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:3.2,76.5:0,1:0,0:70,44:80,89:22,18:-,NM_006893.2(EIF2D) c.1684+165_1684+168delTCTC:-,NOT_FOUND:-,NOT_FOUND 1 206766827 rs113332386 A C 22 idl;mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.7574,C/0.2426;NP=7;PC=0.015;Gene=EIF2D/NM_001201478.1/0;CC=c.1312+141T>G;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.1684+141T>G;VC=Intron;DM=EIF2D/SUI1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:24:23:0:1:16,8:431,248:0.00,21.99:0.00,22.17:0.00,-0.18:0.00,0.99:0.00,1.00:0.00,0.56:60,3:67.8,1.4:1,8:0,0:35,85:116,64:28,16:-,NM_006893.2(EIF2D) c.1684+141T>G:-,NOT_FOUND:-,NOT_FOUND 1 206766845 . A T 19 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;NP=41;Gene=EIF2D/NM_001201478.1/0;CC=c.1312+123T>A;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.1684+123T>A;VC=Intron;DM=EIF2D/SUI1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,D:27:26:0:1:14,2,1,9,1:357,23,16,210,21:0.00,0.71,0.49,18.52,0.94:0.00,0.71,0.49,15.02,0.94:0.00,0.00,0.00,3.50,0.00:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.56,0.00:60,60,60,60,60:20.5,93.5,66.0,72.8,0.0:1,2,1,6,0:0,0,0,0,0:89,44,20,33,127:47,107,130,118,24:18,24,0,6,0:-,NM_006893.2(EIF2D) c.1684+123T>A:-,NOT_FOUND:-,NOT_FOUND 1 206766857 rs587650176 C T 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=229;PC=0.012;Gene=EIF2D/NM_001201478.1/0;CC=c.1312+111G>A;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.1684+111G>A;VC=Intron;DM=EIF2D/SUI1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:C,T,I:29:28:2:0:12,15,2:200,411,63:0.00,40.21,4.57:0.00,36.52,4.57:0.00,3.69,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.68,0.00:60,60,60:15.0,77.2,0.0:0,1,0:0,0,0:115,49,17:30,102,133:16,11,4:-,NM_006893.2(EIF2D) c.1684+111G>A:-,NOT_FOUND:-,NOT_FOUND 1 206767143 . C . . NT END=206769066;NT GT ./. 1 206767445 rs4845115 A G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2376,A/0.7624;Gene=EIF2D/NM_001201478.1/0;CC=c.1138-303T>C;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.1510-303T>C;VC=Intron;DM=EIF2D/SUI1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:49.0:0:0:112:30:15:NM_006893.2(EIF2D) c.1510-303T>C,NM_006893.2(EIF2D) c.1510-303T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 206769047 rs11584983 T C 261 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.7414,C/0.2586;Gene=EIF2D/NM_001201478.1/0;CC=c.1137+20A>G;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.1509+20A>G;VC=Intron;DM=EIF2D/SUI1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:A,C:70:62:0:0:1,69:8,2290:0.08,261.37:0.00,184.94:0.08,76.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,42.0:0,0:0,0:88,38:41,102:0,22:NM_006893.2(EIF2D) c.1509+20A>G,NM_006893.2(EIF2D) c.1509+20A>G:0.26,0.26:0.274027,0.274027 1 206769188 . C . . NT END=206770449;NT GT ./. 1 206770546 . C . . NT END=206772356;NT GT ./. 1 206772447 . C . . NT END=206772816;NT GT ./. 1 206772753 rs4845116 A G 154 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.2368,A/0.7632,T/.;Gene=EIF2D/NM_001201478.1/0;CC=c.830+64T>C;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.1202+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:36:0:0:42:1341:154.07:115.39:38.68:1.00:1.00:1.00:60:37.2:0:0:44:106:27:NM_006893.2(EIF2D) c.1202+64T>C,NM_006893.2(EIF2D) c.1202+64T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 206772967 . C . . NT END=206773086;NT GT ./. 1 206773191 . C . . NT END=206773616;NT GT ./. 1 206773659 rs6662929 A G 130 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=3467;PC=0.198;Gene=EIF2D/NM_001201478.1/0;CC=c.534T>C;ProtCh=p.P178=;VC=Silent;Gene=EIF2D/NM_006893.2/1;CC=c.906T>C;ProtCh=p.P302=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:G:38:24:0:0:38:1118:129.56:52.66:76.90:1.00:1.00:1.00:60:40.3:0:0:91:53:26:NM_006893.2(EIF2D) c.=,NM_006893.2(EIF2D) c.=:1,1:0.999616,0.999616 1 206773663 . C . . NT END=206775689;NT GT ./. 1 206775808 . C . . NT END=206776304;NT GT ./. 1 206776200 rs6668054 C T 175 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=EIF2D/NM_001201478.1/0;CC=c.531-2538G>A;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.784+105G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:45:0:0:47:1531:175.44:158.64:16.80:1.00:1.00:1.00:60:74.3:0:0:43:108:27:NM_006893.2(EIF2D) c.784+105G>A,NM_006893.2(EIF2D) c.784+105G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 206776203 rs6675741 T C 174 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.000599,T/0.9994;NP=1;NP=3385;Gene=EIF2D/NM_001201478.1/0;CC=c.531-2541A>G;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.784+102A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:C,G:50:48:0:0:49,1:1514,5:174.28,0.05:157.22,0.05:17.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.0,111.0:0,0:0,0:37,65:114,83:21,0:NM_006893.2(EIF2D) c.784+102A>G,NM_006893.2(EIF2D) c.784+102A>G:1,1:NOT_FOUND,NOT_FOUND 1 206776559 . C . . NT END=206778752;NT GT ./. 1 206778642 rs4077413 A C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7378,C/0.2622;PC=0.076;Gene=EIF2D/NM_001201478.1/0;CC=c.530+111T>G;VC=Intron;Gene=EIF2D/NM_006893.2/1;CC=c.530+111T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:256:29.86:29.86:0.00:1.00:1.00:0.00:60:28.4:0:0:71:80:27:NM_006893.2(EIF2D) c.530+111T>G,NM_006893.2(EIF2D) c.530+111T>G:0.26,0.26:NOT_FOUND,NOT_FOUND 1 206778861 . C . . NT END=206781588;NT GT ./. 1 206781680 . C . . NT END=206782728;NT GT ./. 1 206782813 . C . . NT END=206784536;NT GT ./. 1 206784728 . C . . NT END=206785639;NT GT ./. 1 206785696 . G . . NT END=206809048;NT GT ./. 1 206809181 . G . . NT END=206809309;NT GT ./. 1 206809399 . G . . NT END=206810219;NT GT ./. 1 206810314 . G . . NT END=206810994;NT GT ./. 1 206811107 . G . . NT END=206820732;NT GT ./. 1 206822311 . T . . NT END=206858678;NT GT ./. 1 206858854 . G . . NT END=206902054;NT GT ./. 1 206902195 . G . . NT END=206902379;NT GT ./. 1 206902337 rs113871244 C T 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.9874,T/0.01258;NP=23;Gene=MAPKAPK2/NM_004759.4/0;CC=c.420-43C>T;VC=Intron;Gene=MAPKAPK2/NM_032960.3/1;CC=c.420-43C>T;VC=Intron;DM=MAPKAPK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:39:0:0:37,41:1137,1242:0.00,120.36:0.00,58.09:0.00,62.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,46.7:0,0:0,0:80,70:71,73:29,45:-,NM_032960.3(MAPKAPK2) c.420-43C>T:-,0.01:-,0.011149 1 206902445 . G . . NT END=206902740;NT GT ./. 1 206902821 . G . . NT END=206903316;NT GT ./. 1 206903088 rs5780358 GT G 14 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GT/0.7764,G/0.2236;DB;DBA=NA;PAF=GT/0.7764,G/0.2236;NP=319;Gene=MAPKAPK2/NM_004759.4/0;CC=c.565-226delT;VC=Intron;Gene=MAPKAPK2/NM_032960.3/1;CC=c.565-226delT;VC=Intron;DM=MAPKAPK2/Pkinase;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:GT,G:12:9:0:6:6,6:213,152:0.00,14.44:0.00,5.41:0.00,9.03:0.00,0.98:0.00,1.00:0.00,0.89:60,70:0.0,27.2:0,0:0,0:50,104:101,46:17,27:-,NM_032960.3(MAPKAPK2) c.565-228delT:-,0.22:-,NOT_FOUND 1 206903444 . G . . NT END=206904032;NT GT ./. 1 206904109 . G . . NT END=206904482;NT GT ./. 1 206904124 . A G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;Gene=MAPKAPK2/NM_004759.4/0;CC=c.767+16A>G;VC=Intron;Gene=MAPKAPK2/NM_032960.3/1;CC=c.767+16A>G;VC=Intron;DM=MAPKAPK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,G:36:21:0:0:30,6:798,111:0.00,6.99:0.00,-1.38:0.00,8.38:0.00,0.89:0.00,0.94:0.00,0.95:60,60:30.7,95.8:0,0:0,0:100,55:37,78:25,35:-,NM_032960.3(MAPKAPK2) c.767+16A>G:-,NOT_FOUND:-,NOT_FOUND 1 206904464 rs10863805 C T 141 nt VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.6941,T/0.3059;PC=0.001;Gene=MAPKAPK2/NM_004759.4/0;CC=c.768-19C>T;VC=Intron;Gene=MAPKAPK2/NM_032960.3/1;CC=c.768-19C>T;VC=Intron;DM=MAPKAPK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:68:0:0:33,43:1091,1427:0.00,140.59:0.00,95.19:0.00,45.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,43.8:0,0:0,0:70,67:68,72:30,34:-,NM_032960.3(MAPKAPK2) c.768-19C>T:-,0.36:-,0.275565 1 206904608 . G . . NT END=206904984;NT GT ./. 1 206904644 . CGT C 19 rn VT=DEL;SST=Single;DP=80;NP=9;Gene=MAPKAPK2/NM_004759.4/0;CC=c.892+56_892+57delGT;VC=Intron;Gene=MAPKAPK2/NM_032960.3/1;CC=c.892+56_892+57delGT;VC=Intron;DM=MAPKAPK2/Pkinase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:CGT,I,C:80:48:1:8:71,1,8:2027,32,262:0.00,1.39,18.80:0.00,0.73,6.86:0.00,0.66,11.94:0.00,0.00,0.93:0.00,0.00,0.97:0.00,0.00,0.99:60,60,60:11.3,0.0,0.0:0,0,0:0,0,0:105,61,95:41,89,54:23,0,13:-,NM_032960.3(MAPKAPK2) c.892+38_892+39delGT:-,NOT_FOUND:-,NOT_FOUND 1 206905071 . G . . NT END=206905183;NT GT ./. 1 206905265 . G . . NT END=206905382;NT GT ./. 1 206906064 . G . . NT END=206941980;NT GT ./. 1 206924720 rs12568651 G T 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7706,T/0.2294;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,T:5:3:0:0:2,3:71,80:0.00,7.95:0.00,3.26:0.00,4.69:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,35.7:0,0:0,0:79,70:61,81:24,15:-,chr1 g.206924719G>T (intergenic):-,0.26:-,NOT_FOUND 1 206941864 rs3024496 A G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7123,G/0.2877;PC=0.049;Gene=IL10/NM_000572.2/1;CC=c.*117T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:36.0:0:0:80:68:52:NM_000572.2(IL10) c.*117T>C,NM_000572.2(IL10) c.*117T>C:0.31,0.31:NOT_FOUND,NOT_FOUND 1 206942074 . C . . NT END=206943173;NT GT ./. 1 206943240 . C . . NT END=206944251;NT GT ./. 1 206943351 rs3024494 T C 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.02316,C/0.9768;Gene=IL10/NM_000572.2/1;CC=c.379-112A>G;VC=Intron;DM=IL10/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:15:3:0:0:15:396:46.37:11.23:35.13:1.00:1.00:1.00:60:30.2:0:0:116:34:31:NM_000572.2(IL10) c.379-112A>G,NM_000572.2(IL10) c.379-112A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 206943968 rs3024493 C A 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9185,A/0.08147;PC=0.292;Gene=IL10/NM_000572.2/1;CC=c.378+284G>T;VC=Intron;DM=IL10/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:4:4:0:0:2,2:66,67:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:33.0,83.0:0,0:0,0:19,80:130,54:1,40:NM_000572.2(IL10) c.378+284G>T,-:0.09,-:NOT_FOUND,- 1 206944233 rs1554286 A G 137 nt VT=SNV;PN=A;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.4081,G/0.5919;Gene=IL10/NM_000572.2/1;CC=c.378+19T>C;VC=Intron;DM=IL10/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:60:0:0:33,40:1035,1393:0.00,136.58:0.00,98.73:0.00,37.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,41.6:0,0:0,0:52,58:98,92:26,31:-,NM_000572.2(IL10) c.378+19T>C:-,0.62:-,0.750884 1 206944405 . C . . NT END=206944700;NT GT ./. 1 206944645 rs1518111 T C 69 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.4269,C/0.5731;Gene=IL10/NM_000572.2/1;CC=c.225+56A>G;VC=Intron;DM=IL10/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:32:0:0:22,17:699,470:68.76,0.00:48.94,0.00:19.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,9.6:0,0:0,0:65,92:78,59:32,37:NM_000572.2(IL10) c.225+56A>G,-:0.6,-:0.732589,- 1 206944761 . c . . NT END=206945615;NT GT ./. 1 206944861 rs1518110 A C 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4257,C/0.5743;Gene=IL10/NM_000572.2/1;CC=c.166-101T>G;VC=Intron;DM=IL10/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:18:2:0:0:8,9,1:237,283,7:0.00,27.47,0.01:0.00,1.14,-0.03:0.00,26.33,0.03:0.00,1.00,0.00:0.00,0.79,0.00:0.00,1.00,0.00:60,60,60:25.4,34.1,174.0:0,0,0:0,0,0:54,102,95:96,48,43:44,19,0:-,NM_000572.2(IL10) c.166-101T>G:-,0.6:-,NOT_FOUND 1 206944952 rs3021094 T G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.854,G/0.146;Gene=IL10/NM_000572.2/1;CC=c.166-192A>C;VC=Intron;DM=IL10/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:15:0:0:0:8,7:279,202:27.23,0.00:0.00,0.00:27.23,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.4,37.6:0,0:0,0:100,89:50,62:28,32:NM_000572.2(IL10) c.166-192A>C,-:0.16,-:NOT_FOUND,- 1 206945381 rs2222202 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7494,A/0.2506;Gene=IL10/NM_000572.2/1;CC=c.165+235C>T;VC=Intron;DM=IL10/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:6:6:0:0:3,3:99,100:9.52,0.00:9.52,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:44.0,9.7:0,0:0,0:24,27:127,122:7,25:NM_000572.2(IL10) c.165+235C>T,-:0.28,-:NOT_FOUND,- 1 206945781 . G . . NT END=206972239;NT GT ./. 1 206972072 rs4845141 C T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5298,T/0.4702;PC=0.754 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:8:8:0:0:5,3:174,92:0.00,8.33:0.00,8.33:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:4.8,37.0:0,0:0,0:35,75:116,74:24,29:-,NM_153758.2(IL19) c.-25-u143C>T:-,0.51:-,NOT_FOUND 1 206972352 . G . . NT END=207007058;NT GT ./. 1 207007641 rs2243158 C G 363 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.134,G/0.866;PC=0.009;Gene=IL19/NM_153758.2/0;CC=c.113-2365C>G;VC=Intron;Gene=IL19/NM_013371.3/1;CC=c.-107C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:95:65:0:0:95:3173:362.53:192.86:169.67:1.00:1.00:1.00:60:45.7:0:0:69:69:36:NM_153758.2(IL19) c.113-2365C>G,NM_153758.2(IL19) c.113-2365C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 1 207007746 . G . . NT END=207010005;NT GT ./. 1 207009910 rs2243170 T C 118 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.1761,C/0.8239;Gene=IL19/NM_153758.2/0;CC=c.113-96T>C;VC=Intron;Gene=IL19/NM_013371.3/1;CC=c.-2-96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:29:0:0:32:1029:118.12:96.15:21.97:1.00:1.00:1.00:60:42.0:0:0:49:101:28:NM_153758.2(IL19) c.113-96T>C,NM_153758.2(IL19) c.113-96T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 207010152 . G . . NT END=207010302;NT GT ./. 1 207010369 . G . . NT END=207013194;NT GT ./. 1 207010626 rs2073186 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3898,C/0.6102;Gene=IL19/NM_153758.2/0;CC=c.324+258T>C;VC=Intron;Gene=IL19/NM_013371.3/1;CC=c.210+258T>C;VC=Intron;DM=IL19/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:113:13.20:0.00:13.20:1.00:0.00:1.00:60:33.8:0:0:97:54:18:NM_153758.2(IL19) c.324+258T>C,NM_153758.2(IL19) c.324+258T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 1 207013348 . G . . NT END=207014348;NT GT ./. 1 207014424 . G . . NT END=207015871;NT GT ./. 1 207014472 rs2243188 A C 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.3862,C/0.6138;Gene=IL19/NM_153758.2/0;CC=c.552+49A>C;VC=Intron;Gene=IL19/NM_013371.3/1;CC=c.438+49A>C;VC=Intron;DM=IL19/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:26:6:0:0:26:735:85.44:14.81:70.63:1.00:1.00:1.00:60:36.7:0:0:108:41:20:NM_153758.2(IL19) c.552+49A>C,NM_153758.2(IL19) c.552+49A>C:0.62,0.62:0.713517,0.713517 1 207015957 rs2243191 T C 124 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.3271,C/0.6729;Gene=IL19/NM_153758.2/0;CC=c.638T>C;ProtCh=p.F213S;VC=Missense;Gene=IL19/NM_013371.3/1;CC=c.524T>C;ProtCh=p.F175S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:16:0:0:33:1086:124.33:36.48:87.85:1.00:1.00:1.00:60:35.6:0:0:100:47:22:NM_153758.2(IL19) c.638T>C (p.Phe213Ser),NM_153758.2(IL19) c.638T>C (p.Phe213Ser):0.65,0.65:0.796259,0.796259 1 207015968 . T . . NT END=207038806;NT GT ./. 1 207038686 rs1400986 C T 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7009,T/0.2991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:14:14:0:0:6,8:187,255:0.00,25.14:0.00,25.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.2,40.6:0,0:0,0:33,40:117,109:26,23:-,NM_018724.3(IL20) c.-44-u468C>T:-,0.23:-,NOT_FOUND 1 207039032 . G . . NT END=207039153;NT GT ./. 1 207039357 . G . . NT END=207039643;NT GT ./. 1 207039710 . G . . NT END=207039828;NT GT ./. 1 207039982 . G . . NT END=207040728;NT GT ./. 1 207040577 rs2981573 G A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3261,A/0.6739;Gene=IL20/NM_018724.3/1;CC=c.379-152G>A;VC=Intron;DM=IL20/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:455:52.18:52.18:0.00:1.00:1.00:0.00:60:54.4:0:0:26:124:25:NM_018724.3(IL20) c.379-152G>A,NM_018724.3(IL20) c.379-152G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 207040659 rs2232360 G A 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.3267,A/0.6733,C/.;Gene=IL20/NM_018724.3/1;CC=c.379-70G>A;VC=Intron;DM=IL20/IL10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A:35:32:0:0:35:1112:127.79:100.17:27.63:1.00:1.00:1.00:60:44.4:0:0:42:109:22:NM_018724.3(IL20) c.379-70G>A,NM_018724.3(IL20) c.379-70G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 1 207040804 . G . . NT END=207041831;NT GT ./. 1 207041910 . G . . NT END=207071177;NT GT ./. 1 207071222 . g . . NT END=207072661;NT GT ./. 1 207072515 rs1150254 T C 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6879,C/0.3121;Gene=IL24/NM_001185156.1/1;CC=c.45-147T>C;VC=Intron;Gene=IL24/NM_001185157.1/0;CC=c.45-147T>C;VC=Intron;Gene=IL24/NM_001185158.1/0;CC=c.45-1125T>C;VC=Intron;Gene=IL24/NM_006850.3/0;CC=c.45-150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:535:61.60:61.60:0.00:1.00:1.00:0.00:60:35.9:0:0:37:114:17:NM_001185156.1(IL24) c.45-147T>C,NM_001185156.1(IL24) c.45-147T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 1 207072861 . G . . NT END=207073639;NT GT ./. 1 207072959 rs1150255 C T 63 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6901,T/0.3099;Gene=IL24/NM_001185156.1/1;CC=c.243+99C>T;VC=Intron;Gene=IL24/NM_001185157.1/0;CC=c.243+99C>T;VC=Intron;Gene=IL24/NM_001185158.1/0;CC=c.45-681C>T;VC=Intron;Gene=IL24/NM_006850.3/0;CC=c.240+99C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:1:0:0:18:544:62.88:1.84:61.05:1.00:1.00:1.00:60:40.8:0:0:112:38:30:NM_001185156.1(IL24) c.243+99C>T,NM_001185156.1(IL24) c.243+99C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 1 207073491 rs1150257 T C 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5192,C/0.4808;Gene=IL24/NM_001185156.1/1;CC=c.244-149T>C;VC=Intron;Gene=IL24/NM_001185157.1/0;CC=c.244-149T>C;VC=Intron;Gene=IL24/NM_001185158.1/0;CC=c.45-149T>C;VC=Intron;Gene=IL24/NM_006850.3/0;CC=c.241-149T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:642:73.23:73.23:0.00:1.00:1.00:0.00:60:49.1:0:0:76:74:34:NM_001185156.1(IL24) c.244-149T>C,NM_001185156.1(IL24) c.244-149T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 207073703 . G . . NT END=207074838;NT GT ./. 1 207074905 rs1150258 T C 243 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.6843,A/.,C/0.3157,G/.;PC=0.625;Gene=IL24/NM_001185156.1/1;CC=c.373T>C;ProtCh=p.Y125H;VC=Missense;Gene=IL24/NM_001185157.1/0;CC=c.307-438T>C;VC=Intron;Gene=IL24/NM_001185158.1/0;CC=c.108-438T>C;VC=Intron;Gene=IL24/NM_006850.3/0;CC=c.370T>C;ProtCh=p.Y124H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:A,C:66:39:0:0:1,65:10,2120:0.14,242.54:0.00,100.08:0.14,142.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,44.9:0,0:0,0:17,76:134,71:0,38:NM_001185156.1(IL24) c.373T>C (p.Tyr125His),NM_001185156.1(IL24) c.373T>C (p.Tyr125His):0.36,0.36:0.411964,0.411964 1 207074998 . g . . NT END=207075342;NT GT ./. 1 207075171 rs291107 T C 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.519,C/0.481;Gene=IL24/NM_001185156.1/1;CC=c.466-172T>C;VC=Intron;Gene=IL24/NM_001185157.1/0;CC=c.307-172T>C;VC=Intron;Gene=IL24/NM_001185158.1/0;CC=c.108-172T>C;VC=Intron;Gene=IL24/NM_006850.3/0;CC=c.463-172T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C,T:23:15:0:0:22,1:730,31:81.69,0.00:52.65,0.00:29.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.9,0.0:0,0:0,0:42,13:107,137:36,0:NM_001185156.1(IL24) c.466-172T>C,NM_001185156.1(IL24) c.466-172T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 207075880 rs397750783 G GC 386 rn VT=INS;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.6891,GC/0.3109;DB;DBA=NA;PAF=G/0.6891,GC/0.3109;NP=406;PC=0.001;Gene=IL24/NM_001185156.1/1;CC=c.541-435dupC;VC=Intron;Gene=IL24/NM_001185157.1/0;CC=c.382-435dupC;VC=Intron;Gene=IL24/NM_001185158.1/0;CC=c.183-435dupC;VC=Intron;Gene=IL24/NM_006850.3/0;CC=c.538-435dupC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G,GC:120:68:113:0:7,113:214,3437:0.00,386.13:0.00,207.28:0.00,178.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.4,13.6:2,0:0,0:143,80:8,66:4,30:NM_001185156.1(IL24) c.541-441_541-440insC,NM_001185156.1(IL24) c.541-441_541-440insC:0.37,0.37:NOT_FOUND,NOT_FOUND 1 207075911 rs11305800 CT C 293 idl,rn VT=DEL;SST=Single;DP=119;DB;DBA=NA;PAF=CT/0.5252,C/0.4748;NP=3;PC=0.003;Gene=IL24/NM_001185156.1/1;CC=c.541-398delT;VC=Intron;Gene=IL24/NM_001185157.1/0;CC=c.382-398delT;VC=Intron;Gene=IL24/NM_001185158.1/0;CC=c.183-398delT;VC=Intron;Gene=IL24/NM_006850.3/0;CC=c.538-398delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:115:77:0:96:24,91:788,2880:0.00,292.63:0.00,176.14:0.00,116.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,17.2:0,4:0,0:120,74:15,74:21,34:-,NM_001185156.1(IL24) c.541-409delT:-,NOT_FOUND:-,NOT_FOUND 1 207076405 . A . . NT END=207078363;NT GT ./. 1 207078493 . C . . NT END=207082806;NT GT ./. 1 207081654 rs1713231 A G 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.746,G/0.254;PC=0.877;Gene=FCMR/NM_001193338.1/0;CC=c.913+1153T>C;VC=Intron;Gene=FCMR/NM_001142473.1/0;CC=c.708+1153T>C;VC=Intron;Gene=FCMR/NM_005449.4/1;CC=c.1044+1153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:4:0:0:10:305:35.27:8.84:26.42:1.00:1.00:1.00:60:37.5:0:0:76:73:38:NM_005449.4(FAIM3) c.1044+1153T>C,NM_005449.4(FAIM3) c.1044+1153T>C:0.3,0.3:NOT_FOUND,NOT_FOUND 1 207082866 . C . . NT END=207083069;NT GT ./. 1 207083214 . C . . NT END=207083554;NT GT ./. 1 207083686 . C . . NT END=207085074;NT GT ./. 1 207085298 . C . . NT END=207086273;NT GT ./. 1 207086388 . C . . NT END=207087103;NT GT ./. 1 207086969 rs291083 A G 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7558,G/0.2442;Gene=FCMR/NM_001193338.1/0;CC=c.373+135T>C;VC=Intron;Gene=FCMR/NM_001142473.1/0;CC=c.38-582T>C;VC=Intron;Gene=FCMR/NM_005449.4/1;CC=c.373+135T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:371:43.22:43.22:0.00:1.00:1.00:0.00:60:47.2:0:0:49:102:18:NM_005449.4(FAIM3) c.373+135T>C,NM_005449.4(FAIM3) c.373+135T>C:0.3,0.3:NOT_FOUND,NOT_FOUND 1 207087435 rs167082 C T 296 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.7558,A/.,T/0.2442;Gene=FCMR/NM_001193338.1/0;CC=c.42G>A;ProtCh=p.S14=;VC=Silent;Gene=FCMR/NM_001142473.1/0;CC=c.38-1048G>A;VC=Intron;Gene=FCMR/NM_005449.4/1;CC=c.42G>A;ProtCh=p.S14=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:80:31:0:0:1,79:30,2612:0.00,296.44:0.00,77.05:0.00,219.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.0,39.8:0,0:0,0:124,116:27,34:0,23:NM_005449.4(FAIM3) c.42G>A (p.(=)),NM_005449.4(FAIM3) c.42G>A (p.(=)):0.3,0.3:0.376442,0.376442 1 207087440 . C . . NT END=207095162;NT GT ./. 1 207087655 rs548049474 TTTCCTTCCTTCCTTCCTTCCTTCC T 15 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=FCMR/NM_001193338.1/0;CC=c.38-240_38-217delGGAAGGAAGGAAGGAAGGAAGGAA;VC=Intron;Gene=FCMR/NM_001142473.1/0;CC=c.38-1292_38-1269delGGAAGGAAGGAAGGAAGGAAGGAA;VC=Intron;Gene=FCMR/NM_005449.4/1;CC=c.38-240_38-217delGGAAGGAAGGAAGGAAGGAAGGAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:TTTCCTTCCTTCCTTCCTTCCTTCC,T:9:0:0:5:4,5:122,157:0.00,15.40:0.00,0.00:0.00,15.40:0.00,0.96:0.00,0.00:0.00,0.96:60,70:2.5,16.0:0,0:0,0:123,90:19,58:14,3:-,NM_005449.4(FAIM3) c.38-240_38-217delGGAAGGAAGGAAGGAAGGAAGGAA:-,NOT_FOUND:-,NOT_FOUND 1 207095200 . T . . NT END=207103665;NT GT ./. 1 207103759 . C . . NT END=207103784;NT GT ./. 1 207104901 . C . . NT END=207105015;NT GT ./. 1 207105148 . C . . NT END=207105800;NT GT ./. 1 207105641 rs908702 C T 108 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.7103,T/0.2897;Gene=PIGR/NM_002644.3/1;CC=c.2008+160G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:T:30:30:0:0:30:940:108.30:108.30:0.00:1.00:1.00:0.00:60:37.6:0:0:52:98:26:NM_002644.3(PIGR) c.2008+160G>A,NM_002644.3(PIGR) c.2008+160G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 207105923 . C . . NT END=207106330;NT GT ./. 1 207106512 . C . . NT END=207107764;NT GT ./. 1 207108092 . C . . NT END=207108830;NT GT ./. 1 207108191 rs74653630 CAT C 78 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=CAT/0.4539,C/0.5461;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CAT/0.4539,C/0.5461;DB;DBA=NA;PAF=CAT/0.4539,C/0.5461;NP=424;PC=0.001;Gene=PIGR/NM_002644.3/1;CC=c.1379-102_1379-101delAT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:CAT,C:24:2:0:22:2,22:58,700:0.00,77.51:0.00,3.54:0.00,73.97:0.00,1.00:0.00,0.99:0.00,1.00:60,60:30.5,6.0:0,0:0,0:145,97:5,53:2,14:NM_002644.3(PIGR) c.1379-102_1379-101delAT,NM_002644.3(PIGR) c.1379-102_1379-101delAT:0.56,0.56:NOT_FOUND,NOT_FOUND 1 207109116 rs2275531 C T 418 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.7037,T/0.2963;PC=0.754;Gene=PIGR/NM_002644.3/1;CC=c.1093G>A;ProtCh=p.G365S;VC=Missense;DM=PIGR/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:110:59:0:0:110:3652:417.60:157.81:259.79:1.00:1.00:1.00:60:59.0:0:0:81:62:33:NM_002644.3(PIGR) c.1093G>A (p.Gly365Ser),NM_002644.3(PIGR) c.1093G>A (p.Gly365Ser):0.35,0.35:0.376884,0.376884 1 207109164 . C . . NT END=207110439;NT GT ./. 1 207109167 rs6695632 G A 310 nt VT=SNV;PN=G;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.7133,A/0.2867;PC=0.953;Gene=PIGR/NM_002644.3/1;CC=c.1046-4C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:86:33:0:0:86:2694:310.22:85.23:224.99:1.00:1.00:1.00:60:71.0:0:0:101:41:24:NM_002644.3(PIGR) c.1046-4C>T,NM_002644.3(PIGR) c.1046-4C>T:0.34,0.34:0.361021,0.361021 1 207110363 rs748140 A G 218 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.7085,G/0.2915;Gene=PIGR/NM_002644.3/1;CC=c.1045+77T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:G:60:59:0:0:60:1895:217.83:195.76:22.07:1.00:1.00:1.00:60:42.7:0:0:51:98:30:NM_002644.3(PIGR) c.1045+77T>C,NM_002644.3(PIGR) c.1045+77T>C:0.34,0.34:NOT_FOUND,NOT_FOUND 1 207110936 rs291096 T C 445 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=T/0.4491,C/0.5509;Gene=PIGR/NM_002644.3/1;CC=c.549A>G;ProtCh=p.V183=;VC=Silent;DM=PIGR/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:119:68:0:0:119:3880:444.60:210.52:234.08:1.00:1.00:1.00:60:40.6:0:0:78:71:40:NM_002644.3(PIGR) c.549A>G (p.(=)),NM_002644.3(PIGR) c.549A>G (p.(=)):0.57,0.57:0.596725,0.596725 1 207111097 . C . . NT END=207112463;NT GT ./. 1 207111257 rs291095 G T 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2885,T/0.7115;PC=0.001;Gene=PIGR/NM_002644.3/1;CC=c.389-161C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:479:54.58:0.00:54.58:1.00:0.00:1.00:60:42.6:0:0:105:45:29:NM_002644.3(PIGR) c.389-161C>A,NM_002644.3(PIGR) c.389-161C>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 207112809 . C . . NT END=207113833;NT GT ./. 1 207113679 rs291091 T C 110 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4491,C/0.5509;Gene=PIGR/NM_002644.3/1;CC=c.43+155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:29:0:0:29:965:110.30:110.30:0.00:1.00:1.00:0.00:60:68.7:0:0:62:89:27:NM_002644.3(PIGR) c.43+155A>G,NM_002644.3(PIGR) c.43+155A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 207113755 rs2007272 G C 168 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.7103,C/0.2897;Gene=PIGR/NM_002644.3/1;CC=c.43+79C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:46:0:0:46:1466:168.42:146.65:21.77:1.00:1.00:1.00:60:50.7:0:0:55:94:39:NM_002644.3(PIGR) c.43+79C>G,NM_002644.3(PIGR) c.43+79C>G:0.34,0.34:0.375383,0.375383 1 207113880 . T . . NT END=207131860;NT GT ./. 1 207132022 . C . . NT END=207133023;NT GT ./. 1 207133143 . C . . NT END=207133766;NT GT ./. 1 207134569 . C . . NT END=207135557;NT GT ./. 1 207135389 rs12121714 C T 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7604,T/0.2396;Gene=FCAMR/NM_001122979.2/1;CC=c.652+169G>A;VC=Intron;Gene=FCAMR/NM_001170631.1/0;CC=c.652+169G>A;VC=Intron;Gene=FCAMR/NM_032029.4/0;CC=c.652+169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:193:22.59:22.59:0.00:1.00:1.00:0.00:60:50.7:0:0:27:124:23:NM_001170631.1(FCAMR) c.652+169G>A,NM_001170631.1(FCAMR) c.652+169G>A:0.25,0.25:NOT_FOUND,NOT_FOUND 1 207135546 rs1572808 G A 221 nt VT=SNV;PN=C;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.6709,A/0.3291;Gene=FCAMR/NM_001122979.2/1;CC=c.652+12C>T;VC=Intron;Gene=FCAMR/NM_001170631.1/0;CC=c.652+12C>T;VC=Intron;Gene=FCAMR/NM_032029.4/0;CC=c.652+12C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:A:58:56:0:0:58:1932:220.84:187.63:33.20:1.00:1.00:1.00:60:38.0:0:0:49:98:32:NM_001170631.1(FCAMR) c.652+12C>T,NM_001170631.1(FCAMR) c.652+12C>T:0.32,0.32:0.378252,0.378252 1 207135897 . C . . NT END=207139059;NT GT ./. 1 207135991 rs11119925 C T 126 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6502,T/0.3498;PC=0.003;Gene=FCAMR/NM_001122979.2/1;CC=c.314-95G>A;VC=Intron;Gene=FCAMR/NM_001170631.1/0;CC=c.314-95G>A;VC=Intron;Gene=FCAMR/NM_032029.4/0;CC=c.314-95G>A;VC=Intron;DM=FCAMR/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:99:T:37:2:0:0:37:1087:126.05:3.83:122.22:1.00:1.00:1.00:60:41.5:0:0:92:57:30:NM_001170631.1(FCAMR) c.314-95G>A,NM_001170631.1(FCAMR) c.314-95G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 207139204 . C . . NT END=207140396;NT GT ./. 1 207140458 . C . . NT END=207140927;NT GT ./. 1 207140997 . C . . NT END=207143431;NT GT ./. 1 207143422 rs1856746 A G 273 nt VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.4499,G/0.5501;Gene=FCAMR/NM_001122979.2/1;CC=c.39+10T>C;VC=Intron;Gene=FCAMR/NM_001170631.1/0;CC=c.39+10T>C;VC=Intron;Gene=FCAMR/NM_032029.4/0;CC=c.39+10T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:61:0:0:75:2372:272.77:165.32:107.45:1.00:1.00:1.00:60:40.0:0:0:45:106:26:NM_001170631.1(FCAMR) c.39+10T>C,NM_001170631.1(FCAMR) c.39+10T>C:0.56,0.56:0.585534,0.585534 1 207143471 . C . . NT END=207195302;NT GT ./. 1 207173629 rs7545691 G T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5599,T/0.4401 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:G,T:4:2:0:0:2,2:24,69:0.00,6.67:0.00,1.55:0.00,5.12:0.00,0.51:0.00,0.79:0.00,0.89:60,60:64.5,79.0:0,0:0,0:75,104:75,46:29,12:-,chr1 g.207173628G>T (intergenic):-,0.45:-,NOT_FOUND 1 207195779 rs2842726 A G 450 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=A/0.004792,G/0.9952;NP=3467;PC=0.040;Gene=C1orf116/NM_001083924.1/0;CC=c.592T>C;ProtCh=p.S198P;VC=Missense;Gene=C1orf116/NM_023938.5/1;CC=c.1330T>C;ProtCh=p.S444P;VC=Missense;DM=C1orf116/SARG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:121:70:0:0:121:3920:449.57:201.10:248.47:1.00:1.00:1.00:60:44.8:0:0:65:84:43:NM_023938.5(C1orf116) c.1330T>C (p.Ser444Pro),NM_023938.5(C1orf116) c.1330T>C (p.Ser444Pro):0.99,0.99:0.988698,0.988698 1 207196826 . C . . NT END=207198231;NT GT ./. 1 207198410 . C . . NT END=207200838;NT GT ./. 1 207201025 . C . . NT END=207205923;NT GT ./. 1 207206102 . G . . NT END=207208505;NT GT ./. 1 207208542 . G . . NT END=207222364;NT GT ./. 1 207223069 . C . . NT END=207224032;NT GT ./. 1 207224423 . C . . NT END=207225529;NT GT ./. 1 207225581 . C . . NT END=207228062;NT GT ./. 1 207228148 . G . . NT END=207235297;NT GT ./. 1 207235424 . G . . NT END=207235891;NT GT ./. 1 207235954 rs2075863 G A 306 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.743,A/0.257;PC=0.500;Gene=PFKFB2/NM_006212.2/0;CC=c.212-11G>A;VC=Intron;Gene=PFKFB2/NM_001018053.1/1;CC=c.212-11G>A;VC=Intron;DM=PFKFB2/6PF2K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:87:68:0:0:87:2644:305.57:192.35:113.22:1.00:1.00:1.00:60:43.2:0:0:57:90:36:NM_006212.2(PFKFB2) c.212-11G>A,NM_006212.2(PFKFB2) c.212-11G>A:0.28,0.28:0.363294,0.363294 1 207236062 . G . . NT END=207236487;NT GT ./. 1 207236555 . G . . NT END=207236691;NT GT ./. 1 207236767 . G . . NT END=207237117;NT GT ./. 1 207237175 . G . . NT END=207238380;NT GT ./. 1 207237233 rs57138984 G GGGGTGTGTGTGTGTGT 57 idl,nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;Gene=PFKFB2/NM_006212.2/0;CC=c.507+60_507+61insGGTGTGTGTGTGTGTG;VC=Intron;Gene=PFKFB2/NM_001018053.1/1;CC=c.507+60_507+61insGGTGTGTGTGTGTGTG;VC=Intron;DM=PFKFB2/6PF2K;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:G,GGGGTGTGTGTGTGTGT:20:15:30:0:2,18:66,910:0.00,56.76:0.00,19.66:0.00,37.10:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.0,24.3:0,12:0,0:117,93:15,41:20,22:-,NM_006212.2(PFKFB2) c.507+59_507+60insGGGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 207238419 rs72741390 C T 169 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.8892,T/0.1108;PC=0.994;Gene=PFKFB2/NM_006212.2/0;CC=c.546C>T;ProtCh=p.N182=;VC=Silent;Gene=PFKFB2/NM_001018053.1/1;CC=c.546C>T;ProtCh=p.N182=;VC=Silent;DM=PFKFB2/6PF2K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:113:86:0:0:56,57:1809,1756:0.00,168.70:0.00,101.97:0.00,66.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,38.5:0,0:0,0:78,85:72,62:35,38:-,NM_006212.2(PFKFB2) c.546C>T (p.(=)):-,0.13:-,0.191988 1 207238506 . G . . NT END=207238512;NT GT ./. 1 207238640 . G . . NT END=207240843;NT GT ./. 1 207241052 . G . . NT END=207241507;NT GT ./. 1 207241437 rs377712083 TTGA T 8 nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=11;PC=0.046;Gene=PFKFB2/NM_006212.2/0;CC=c.841-70_841-68delTGA;VC=Intron;Gene=PFKFB2/NM_001018053.1/1;CC=c.841-70_841-68delTGA;VC=Intron;DM=PFKFB2/His_Phos_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:TTGA,T:43:37:0:4:39,4:1091,121:0.00,8.24:0.00,2.49:0.00,5.76:0.00,0.58:0.00,0.91:0.00,0.53:60,60:25.3,20.2:28,0:0,0:58,13:93,122:29,6:-,NM_006212.2(PFKFB2) c.841-70_841-68delTGA:-,NOT_FOUND:-,NOT_FOUND 1 207241440 rs56169503 A AGTGTGTGTGT 61 idl,nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=39;PC=0.046;Gene=PFKFB2/NM_006212.2/0;CC=c.841-46_841-45insGTGTGTGTGT;VC=Intron;Gene=PFKFB2/NM_001018053.1/1;CC=c.841-46_841-45insGTGTGTGTGT;VC=Intron;DM=PFKFB2/His_Phos_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:A,T,AGTGTGTGTGT:34:35:28:5:10,3,21:223,65,825:0.00,4.26,60.74:0.00,-0.26,55.99:0.00,4.52,4.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:44.9,75.3,13.4:1,0,7:0,0,0:119,1,45:19,149,105:16,0,19:-,NM_006212.2(PFKFB2) c.841-68_841-67insGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 207241463 rs72741394 C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=244;Gene=PFKFB2/NM_006212.2/0;CC=c.841-45C>G;VC=Intron;Gene=PFKFB2/NM_001018053.1/1;CC=c.841-45C>G;VC=Intron;DM=PFKFB2/His_Phos_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,G:56:47:0:0:49,7:1532,192:0.00,13.42:0.00,8.27:0.00,5.15:0.00,0.91:0.00,0.99:0.00,0.85:60,60:14.5,72.0:0,0:0,0:45,133:96,8:21,15:-,NM_006212.2(PFKFB2) c.841-45C>G:-,NOT_FOUND:-,NOT_FOUND 1 207241655 . G . . NT END=207242768;NT GT ./. 1 207242874 . G . . NT END=207243624;NT GT ./. 1 207243755 . G . . NT END=207244532;NT GT ./. 1 207243851 rs923109 A G 77 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.1228,G/0.8772;Gene=PFKFB2/NM_006212.2/0;CC=c.1222+97A>G;VC=Intron;Gene=PFKFB2/NM_001018053.1/1;CC=c.1222+97A>G;VC=Intron;DM=PFKFB2/His_Phos_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:11:0:0:31,26:918,817:0.00,76.92:0.00,5.36:0.00,71.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,40.2:0,0:0,0:114,101:36,49:26,35:-,NM_006212.2(PFKFB2) c.1222+97A>G:-,0.86:-,NOT_FOUND 1 207244596 . G . . NT END=207244853;NT GT ./. 1 207244919 . G . . NT END=207245548;NT GT ./. 1 207249597 . CT C 28 idl,rn VT=DEL;SST=Single;DP=97;NP=1;Gene=PFKFB2/NM_006212.2/0;CC=c.*3897delT;VC=3UTR;Gene=PFKFB2/NM_001018053.1/1;CC=c.1351-2686delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:CT,G,T,I,C:84:68:9:23:61,1,3,7,12:1945,12,102,285,708:0.00,-0.11,6.28,15.67,28.06:0.00,-0.00,1.88,5.27,19.79:0.00,-0.11,4.40,10.40,8.26:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.99:60,60,60,60,70:37.1,12.0,67.3,18.4,75.4:0,1,0,2,11:0,0,0,0,0:84,110,31,47,55:60,13,120,101,96:38,0,22,18,21:-,NM_006212.2(PFKFB2) c.*3882T[15]:-,NOT_FOUND:-,NOT_FOUND 1 207251163 . T . . NT END=207252298;NT GT ./. 1 207252365 . T . . NT END=207262876;NT GT ./. 1 207262935 . G . . NT END=207263652;NT GT ./. 1 207262980 rs12711513 T G 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.3876,A/.,G/0.6124;Gene=C4BPB/NM_001017365.2/0;CC=c.58+46T>G;VC=Intron;Gene=C4BPB/NM_001017366.2/1;CC=c.58+46T>G;VC=Intron;Gene=C4BPB/NM_000716.3/0;CC=c.58+46T>G;VC=Intron;Gene=C4BPB/NM_001017364.1/0;CC=c.58+46T>G;VC=Intron;Gene=C4BPB/NM_001017367.1/0;CC=c.58+46T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:63:26:0:0:29,34:965,1127:91.45,0.00:24.02,0.00:67.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,2.7:0,0:0,0:113,97:37,45:25,30:NM_001017365.1(C4BPB) c.58+46T>G,-:0.62,-:0.500308,- 1 207263827 . G . . NT END=207264988;NT GT ./. 1 207263829 rs6690037 A G 106 nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.5565,G/0.4435;PC=0.287;Gene=C4BPB/NM_001017365.2/0;CC=c.232+3A>G;VC=Intron;Gene=C4BPB/NM_001017366.2/1;CC=c.229+3A>G;VC=Intron;Gene=C4BPB/NM_000716.3/0;CC=c.232+3A>G;VC=Intron;Gene=C4BPB/NM_001017364.1/0;CC=c.229+3A>G;VC=Intron;Gene=C4BPB/NM_001017367.1/0;CC=c.232+3A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:21:0:0:24,32:757,1072:0.00,105.88:0.00,28.94:0.00,76.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,38.2:0,0:0,0:86,89:53,43:25,32:-,NM_001017365.1(C4BPB) c.232+3A>G:-,0.47:-,0.370752 1 207265166 . G . . NT END=207269866;NT GT ./. 1 207269919 rs8942 C T 16 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6102,G/.,T/0.3898;PC=0.013;Gene=C4BPB/NM_001017365.2/0;CC=c.462C>T;ProtCh=p.N154=;VC=Silent;Gene=C4BPB/NM_001017366.2/1;CC=c.459C>T;ProtCh=p.N153=;VC=Silent;Gene=C4BPB/NM_000716.3/0;CC=c.462C>T;ProtCh=p.N154=;VC=Silent;Gene=C4BPB/NM_001017364.1/0;CC=c.459C>T;ProtCh=p.N153=;VC=Silent;Gene=C4BPB/NM_001017367.1/0;CC=c.462C>T;ProtCh=p.N154=;VC=Silent;DM=C4BPB/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:25:15:0:0:19,6:600,188:0.00,15.69:0.00,6.91:0.00,8.77:0.00,0.92:0.00,0.96:0.00,0.97:60,60:4.4,36.3:0,0:0,0:54,87:96,61:33,30:-,NM_001017365.1(C4BPB) c.462C>T (p.(=)):-,0.33:-,0.3829 1 207269961 . G . . NT END=207271494;NT GT ./. 1 207271610 . g . . NT END=207273133;NT GT ./. 1 207273275 . C . . NT END=207286370;NT GT ./. 1 207273398 . CATGTGTGTGTGT C 10 nt VT=DEL;SST=Single;DP=13;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:CATGTGTGTGTGT,C:12:2:0:5:8,4:209,143:0.00,10.29:0.00,-0.24:0.00,10.53:0.00,0.79:0.00,0.60:0.00,0.97:60,60:48.6,18.5:2,1:0,0:95,62:51,88:19,7:-,NM_000715.3(C4BPA) c.-194-u4208_-194-u4197delATGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 207273399 rs72742917 A G 10 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7194,G/0.2806;NP=91 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G,D:7:2:0:7:2,3,2:44,100,37:0.00,9.85,3.24:0.00,1.75,3.33:0.00,8.10,-0.09:0.00,0.69,0.00:0.00,0.73,0.00:0.00,0.95,0.00:60,60,60:42.0,75.7,35.5:0,0,0:0,0,0:107,104,73:39,46,77:18,17,15:-,NM_000715.3(C4BPA) c.-194-u4208A>G:-,NOT_FOUND:-,NOT_FOUND 1 207273439 rs368202757 ATG G,A 19 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=6;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:106:ATG,G,A:12:3:0:7:2,4,6:40,138,224:0.00,13.36,19.34:0.00,3.37,-0.24:0.00,9.98,19.58:0.00,0.00,0.97:0.00,0.00,0.86:0.00,0.00,1.00:60,60,60:35.5,92.8,15.0:0,0,1:0,0,0:105,129,75:45,18,75:15,7,16:NM_000715.3(C4BPA) c.-194-u4168_-194-u4167delAT,NM_000715.3(C4BPA) c.-194-u4167_-194-u4166delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207286381 rs55867570 C A 115 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.9653,A/0.03474,T/.;PC=0.483;Gene=C4BPA/NM_000715.3/1;CC=c.11C>A;ProtCh=p.P4Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:70:57:0:0:38,32:1177,997:114.79,0.00:74.72,0.00:40.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,10.1:0,0:0,0:54,54:82,90:36,33:NM_000715.3(C4BPA) c.11C>A (p.Pro4Gln),-:0.03,-:0.027372,- 1 207286513 . G . . NT END=207287444;NT GT ./. 1 207287187 rs2808470 C T 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.615,T/0.385;Gene=C4BPA/NM_000715.3/1;CC=c.143-258C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,T:5:5:0:0:2,3:38,85:0.00,8.49:0.00,8.49:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:91.0,28.3:0,0:0,0:38,81:112,69:19,32:-,NM_000715.3(C4BPA) c.143-258C>T:-,0.33:-,NOT_FOUND 1 207287631 . G . . NT END=207288760;NT GT ./. 1 207288861 . G . . NT END=207297266;NT GT ./. 1 207288897 rs12031629 T C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.5443,C/0.4557;PC=0.674;Gene=C4BPA/NM_000715.3/1;CC=c.428+37T>C;VC=Intron;DM=C4BPA/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:6:0:0:10,7:324,235:32.13,0.00:6.53,0.00:25.60,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:40.3,0.0:0,0:0,0:111,104:39,47:19,5:NM_000715.3(C4BPA) c.428+37T>C,-:0.51,-:0.483769,- 1 207297353 . G . . NT END=207297519;NT GT ./. 1 207297484 rs2842707 G C 156 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.4742,A/.,C/0.5258;Gene=C4BPA/NM_000715.3/1;CC=c.515-36G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:30:0:0:43:1353:155.76:93.89:61.87:1.00:1.00:1.00:60:45.3:0:0:44:105:30:NM_000715.3(C4BPA) c.515-36G>C,NM_000715.3(C4BPA) c.515-36G>C:0.49,0.49:0.444564,0.444564 1 207297680 rs1126618 T C 105 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.1422,C/0.8578;PC=0.001;Gene=C4BPA/NM_000715.3/1;CC=c.675T>C;ProtCh=p.G225=;VC=Silent;DM=C4BPA/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:33:0:0:35,30:1080,995:105.09,0.00:29.72,0.00:75.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,5.6:0,0:0,0:93,87:55,60:32,26:NM_000715.3(C4BPA) c.675T>C (p.(=)),-:0.85,-:0.860987,- 1 207297712 . G . . NT END=207300057;NT GT ./. 1 207300241 . G . . NT END=207304890;NT GT ./. 1 207300259 rs2491393 A G 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5779,G/0.4221;PC=0.005;Gene=C4BPA/NM_000715.3/1;CC=c.889+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:12:0:0:18,25:610,780:0.00,77.22:0.00,13.36:0.00,63.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,33.6:0,0:0,0:110,89:40,53:16,23:-,NM_000715.3(C4BPA) c.889+19A>G:-,0.41:-,0.416269 1 207304900 rs4844573 T C 33 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.5102,C/0.4898;Gene=C4BPA/NM_000715.3/1;CC=c.899T>C;ProtCh=p.I300T;VC=Missense;DM=C4BPA/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:29:0:0:13,25:375,779:33.08,0.00:22.63,0.00:10.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,5.8:0,0:0,0:29,64:121,71:18,27:NM_000715.3(C4BPA) c.899T>C (p.Ile300Thr),-:0.47,-:0.484084,- 1 207305086 . G . . NT END=207307748;NT GT ./. 1 207307938 . G . . NT END=207314450;NT GT ./. 1 207314622 . G . . NT END=207317162;NT GT ./. 1 207317339 . G . . NT END=207317888;NT GT ./. 1 207318063 . T . . NT END=207495110;NT GT ./. 1 207495211 . G . . NT END=207495726;NT GT ./. 1 207495427 rs7533852 G T 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6118,T/0.3882;Gene=CD55/NM_001300902.1/0;CC=c.100+217G>T;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.100+217G>T;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.100+217G>T;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.100+217G>T;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.100+217G>T;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:6:0:0:13:387:44.80:19.08:25.72:1.00:1.00:1.00:60:54.4:0:0:69:80:31:NM_000574.3(CD55) c.100+217G>T,NM_000574.3(CD55) c.100+217G>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 207495913 . G . . NT END=207497903;NT GT ./. 1 207498096 . G . . NT END=207498966;NT GT ./. 1 207499067 . G . . NT END=207500096;NT GT ./. 1 207500183 . G . . NT END=207504452;NT GT ./. 1 207500293 rs4844591 C T 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.3786,T/0.6214;Gene=CD55/NM_001300902.1/0;CC=c.664+111C>T;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.664+111C>T;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.664+111C>T;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.664+111C>T;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.664+111C>T;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding;DM=CD55/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:0:0:0:13:420:48.20:0.00:48.20:1.00:0.00:1.00:60:39.8:0:0:92:55:17:NM_000574.3(CD55) c.664+111C>T,NM_000574.3(CD55) c.664+111C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 207504642 . G . . NT END=207510037;NT GT ./. 1 207504669 rs2184476 G A 121 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.025;Gene=CD55/NM_001300902.1/0;CC=c.853+28G>A;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.853+28G>A;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.853+28G>A;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.853+28G>A;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.853+28G>A;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding;DM=CD55/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:16:0:0:34:1051:121.27:42.53:78.74:1.00:1.00:1.00:60:42.4:0:0:91:56:22:NM_000574.3(CD55) c.853+28G>A,NM_000574.3(CD55) c.853+28G>A:0.66,0.66:0.703521,0.703521 1 207504748 rs1507757 C A 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3786,A/0.6214;Gene=CD55/NM_001300902.1/0;CC=c.853+107C>A;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.853+107C>A;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.853+107C>A;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.853+107C>A;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.853+107C>A;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding;DM=CD55/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:2:0:0:12:368:42.46:5.72:36.75:1.00:1.00:1.00:60:70.8:0:0:115:25:20:NM_000574.3(CD55) c.853+107C>A,NM_000574.3(CD55) c.853+107C>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 207504819 rs5780384 TAC T 18 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=415;PC=0.002;Gene=CD55/NM_001300902.1/0;CC=c.853+194_853+195delCA;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.853+194_853+195delCA;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.853+194_853+195delCA;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.853+194_853+195delCA;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.853+194_853+195delCA;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding;DM=CD55/Sushi;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:5:5:160:18.38:0.00:18.38:1.00:0.00:1.00:60:17.4:0:0:66:84:21:NM_000574.3(CD55) c.853+179_853+180delAC,NM_000574.3(CD55) c.853+179_853+180delAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207510164 . G . . NT END=207510673;NT GT ./. 1 207510289 rs2490257 T C 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.00599,C/0.994;NP=3315;PC=0.004;Gene=CD55/NM_001300902.1/0;CC=c.979+126T>C;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.979+126T>C;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.979+126T>C;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.979+126T>C;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.979+126T>C;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:2:0:0:17:551:63.16:7.45:55.71:1.00:1.00:1.00:60:40.5:0:0:83:68:40:NM_000574.3(CD55) c.979+126T>C,NM_000574.3(CD55) c.979+126T>C:1,1:NOT_FOUND,NOT_FOUND 1 207510548 rs10746462 A G 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3784,G/0.6216;Gene=CD55/NM_001300902.1/0;CC=c.980-126A>G;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.980-126A>G;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.980-126A>G;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.980-126A>G;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.980-126A>G;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:11:0:0:13:436:49.80:41.94:7.85:1.00:1.00:1.00:60:66.9:0:0:79:72:45:NM_000574.3(CD55) c.980-126A>G,NM_000574.3(CD55) c.980-126A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 1 207510596 rs10746463 G A 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3784,A/0.6216;Gene=CD55/NM_001300902.1/0;CC=c.980-78G>A;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.980-78G>A;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.980-78G>A;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.980-78G>A;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.980-78G>A;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:14:0:0:16:538:61.43:53.88:7.55:1.00:1.00:1.00:60:62.9:0:0:70:79:40:NM_000574.3(CD55) c.980-78G>A,NM_000574.3(CD55) c.980-78G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 207510755 . G . . NT END=207512741;NT GT ./. 1 207512577 rs59976929 T TTAA 29 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.00619,TTAA/0.9938;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.00619,TTAA/0.9938;NP=1268;PC=0.173;Gene=CD55/NM_001300902.1/0;CC=c.1061-163_1061-161dupAAT;VC=Intron;Gene=CD55/NM_000574.4/0;CC=c.1061-163_1061-161dupAAT;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.1061-163_1061-161dupAAT;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.1061-163_1061-161dupAAT;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.1061-163_1061-161dupAAT;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:TTAA:8:8:8:0:8:255:29.31:29.31:0.00:1.00:1.00:0.00:60:4.1:0:0:36:113:13:NM_000574.3(CD55) c.1061-165_1061-164insTAA,NM_000574.3(CD55) c.1061-165_1061-164insTAA:0.99,0.99:NOT_FOUND,NOT_FOUND 1 207512763 . G . . NT END=207527351;NT GT ./. 1 207527622 . C . . NT END=207532890;NT GT ./. 1 207532654 rs2782838 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01018,A/0.9898;NP=200;Gene=CD55/NM_000574.4/0;CC=c.1082-237G>A;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.1200-237G>A;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.1197-237G>A;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.*20-237G>A;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding;DM=CD55/GVQW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:35.0:0:0:21:129:6:NM_000574.3(CD55) c.1082-237G>A,NM_000574.3(CD55) c.1082-237G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 207532861 rs66763961 C CTTT 33 idl,rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=7;Gene=CD55/NM_000574.4/0;CC=c.1082-10_1082-9insTTT;VC=Intron;Gene=CD55/NM_001114752.2/0;CC=c.1200-10_1200-9insTTT;VC=Intron;Gene=CD55/NM_001300903.1/0;CC=c.1197-10_1197-9insTTT;VC=Intron;Gene=CD55/NM_001300904.1/1;CC=c.*20-10_*20-9insTTT;VC=Intron;Gene=CD55/NR_125349.1/0;VC=NonCoding;DM=CD55/GVQW;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTTT,D:22:27:22:1:9,1,11,1:242,12,687,33:0.00,0.25,33.43,2.14:0.00,0.28,11.71,2.18:0.00,-0.04,21.72,-0.04:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:36.9,21.0,78.1,32.0:1,0,11,0:0,0,0,0:102,147,58,31:21,4,84,119:5,0,15,0:-,NM_000574.3(CD55) c.1082-30_1082-29insTTT:-,NOT_FOUND:-,NOT_FOUND 1 207533015 . A . . NT END=207627763;NT GT ./. 1 207620972 rs199636055 TAC T 17 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=180;PC=0.002;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:5:5:151:17.48:7.05:10.43:1.00:1.00:1.00:60:47.6:0:0:63:68:37:NM_001006658.2(CR2) c.-119-u6672_-119-u6671delAC,NM_001006658.2(CR2) c.-119-u6672_-119-u6671delAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207627693 rs3813946 T C 281 nt VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.8692,C/0.1308;Gene=CR2/NM_001006658.2/1;CC=c.-71T>C;VC=5UTR;Gene=CR2/NM_001877.4/0;CC=c.-71T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:69:0:0:75:2452:280.92:199.34:81.58:1.00:1.00:1.00:60:40.2:0:0:34:111:16:NM_001006658.2(CR2) c.-71T>C,NM_001006658.2(CR2) c.-71T>C:0.16,0.16:NOT_FOUND,NOT_FOUND 1 207627822 . G . . NT END=207639870;NT GT ./. 1 207640258 . G . . NT END=207641871;NT GT ./. 1 207640492 rs1257562 C T 31 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.03454,T/0.9655;Gene=CR2/NM_001006658.2/1;CC=c.445+235C>T;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.445+235C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:270:31.29:0.00:31.29:1.00:0.00:1.00:60:40.3:0:0:141:10:2:NM_001006658.2(CR2) c.445+235C>T,NM_001006658.2(CR2) c.445+235C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 207641840 rs2063143 C T 204 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.868,A/.,T/0.132;PC=0.792;Gene=CR2/NM_001006658.2/1;CC=c.446-32C>T;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.446-32C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:G,T:56:49:0:0:1,55:14,1780:0.36,203.64:0.36,141.34:0.00,62.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,39.0:0,0:0,0:2,54:149,95:0,26:NM_001006658.2(CR2) c.446-32C>T,NM_001006658.2(CR2) c.446-32C>T:0.15,0.15:0.169383,0.169383 1 207642061 . G . . NT END=207642144;NT GT ./. 1 207642245 . G . . NT END=207642494;NT GT ./. 1 207642295 rs1507764 G A 131 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8387,A/0.1613,T/.;Gene=CR2/NM_001006658.2/1;CC=c.734+51G>A;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.734+51G>A;VC=Intron;DM=CR2/Sushi;DM=CR2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A,G:37:10:0:0:36,1:1162,34:131.34,0.00:30.02,0.00:101.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,0.0:0,0:0,0:114,121:36,29:17,0:NM_001006658.2(CR2) c.734+51G>A,NM_001006658.2(CR2) c.734+51G>A:0.18,0.18:0.194372,0.194372 1 207642578 . G . . NT END=207643039;NT GT ./. 1 207643448 . G . . NT END=207644084;NT GT ./. 1 207643673 rs568515 T C 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.7416,C/0.2584;Gene=CR2/NM_001006658.2/1;CC=c.1225+226T>C;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.1225+226T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,C:14:1:0:0:1,13:29,280:2.23,33.60:0.00,3.24:2.23,30.35:0.00,1.00:0.00,0.95:0.00,1.00:60,60:29.0,58.0:0,0:0,0:110,81:40,70:0,38:NM_001006658.2(CR2) c.1225+226T>C,NM_001006658.2(CR2) c.1225+226T>C:0.27,0.27:NOT_FOUND,NOT_FOUND 1 207643687 rs528240470 G GA 17 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=9;Gene=CR2/NM_001006658.2/1;CC=c.1225+246dupA;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.1225+246dupA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,G,GA:12:1:6:0:1,5,6:8,155,175:0.16,0.00,17.05:0.00,0.00,3.38:0.16,0.00,13.67:0.00,0.00,0.98:0.00,0.00,0.67:0.00,0.00,1.00:60,60,60:169.0,27.6,68.0:1,0,0:0,0,0:103,133,66:40,18,84:0,6,26:-,NM_001006658.2(CR2) c.1225+240_1225+241insA:-,NOT_FOUND:-,NOT_FOUND 1 207644262 . G . . NT END=207644341;NT GT ./. 1 207644433 . G . . NT END=207644767;NT GT ./. 1 207644845 . G . . NT END=207646116;NT GT ./. 1 207645895 rs9429774 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7416,A/0.2584;Gene=CR2/NM_001006658.2/1;CC=c.1571-222G>A;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.1571-222G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:278:32.09:32.09:0.00:1.00:1.00:0.00:60:76.9:0:0:30:121:25:NM_001006658.2(CR2) c.1571-222G>A,NM_001006658.2(CR2) c.1571-222G>A:0.27,0.27:NOT_FOUND,NOT_FOUND 1 207645956 rs9429936 C A 60 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7332,A/0.2668;Gene=CR2/NM_001006658.2/1;CC=c.1571-161C>A;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.1571-161C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:16:0:0:16:528:60.43:60.43:0.00:1.00:1.00:0.00:60:64.6:0:0:49:101:26:NM_001006658.2(CR2) c.1571-161C>A,NM_001006658.2(CR2) c.1571-161C>A:0.27,0.27:NOT_FOUND,NOT_FOUND 1 207646322 rs1048971 G A 247 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.5996,A/0.4004;PC=0.012;Gene=CR2/NM_001006658.2/1;CC=c.1776G>A;ProtCh=p.L592=;VC=Silent;Gene=CR2/NM_001877.4/0;CC=c.1776G>A;ProtCh=p.L592=;VC=Silent;DM=CR2/Sushi;DM=CR2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:69:38:0:0:69:2145:247.19:106.31:140.88:1.00:1.00:1.00:60:43.0:0:0:78:70:42:NM_001006658.2(CR2) c.1776G>A (p.(=)),NM_001006658.2(CR2) c.1776G>A (p.(=)):0.4,0.4:0.468399,0.468399 1 207646462 rs17615 G A 245 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.7416,A/0.2584;PC=0.056;Gene=CR2/NM_001006658.2/1;CC=c.1916G>A;ProtCh=p.S639N;VC=Missense;Gene=CR2/NM_001877.4/0;CC=c.1916G>A;ProtCh=p.S639N;VC=Missense;DM=CR2/Sushi;DM=CR2/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:A,C:68:44:0:0:67,1:2141,10:245.47,0.14:112.66,0.14:132.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,30:35.6,252.0:0,0:0,0:81,78:70,71:29,0:NM_001006658.2(CR2) c.1916G>A (p.Ser639Asn),NM_001006658.2(CR2) c.1916G>A (p.Ser639Asn):0.27,0.27:0.337383,0.337383 1 207646525 . G . . NT END=207646889;NT GT ./. 1 207646898 rs4308977 T C 195 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.7105,A/.,C/0.2895;PC=0.197;Gene=CR2/NM_001006658.2/1;CC=c.1987T>C;ProtCh=p.S663P;VC=Missense;Gene=CR2/NM_001877.4/0;CC=c.1979-248T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:44:0:0:52:1706:195.29:143.79:51.50:1.00:1.00:1.00:60:71.6:0:0:59:92:26:NM_001006658.2(CR2) c.1987T>C (p.Ser663Pro),NM_001006658.2(CR2) c.1987T>C (p.Ser663Pro):0.3,0.3:0.377057,0.377057 1 207646923 rs17616 G A 216 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.7424,A/0.2576;Gene=CR2/NM_001006658.2/1;CC=c.2012G>A;ProtCh=p.R671H;VC=Missense;Gene=CR2/NM_001877.4/0;CC=c.1979-223G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:A:58:47:0:0:58:1884:216.00:138.63:77.37:1.00:1.00:1.00:60:65.7:0:0:61:87:33:NM_001006658.2(CR2) c.2012G>A (p.Arg671His),NM_001006658.2(CR2) c.2012G>A (p.Arg671His):0.27,0.27:0.336691,0.336691 1 207647067 . G . . NT END=207647145;NT GT ./. 1 207647231 . G . . NT END=207647585;NT GT ./. 1 207647669 . G . . NT END=207648168;NT GT ./. 1 207648562 . G . . NT END=207649578;NT GT ./. 1 207649765 . G . . NT END=207651229;NT GT ./. 1 207651416 . G . . NT END=207652601;NT GT ./. 1 207652626 . G . . NT END=207653322;NT GT ./. 1 207653106 rs2182909 A C 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7995,C/0.2005;PC=0.010;Gene=CR2/NM_001006658.2/1;CC=c.3113-217A>C;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.2936-217A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:143:16.67:16.67:0.00:1.00:1.00:0.00:60:66.0:0:0:46:104:32:NM_001006658.2(CR2) c.3113-217A>C,NM_001006658.2(CR2) c.3113-217A>C:0.22,0.22:NOT_FOUND,NOT_FOUND 1 207653178 rs12032512 C G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6162,G/0.3838;Gene=CR2/NM_001006658.2/1;CC=c.3113-145C>G;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.2936-145C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:223:25.59:25.59:0.00:1.00:1.00:0.00:60:58.1:0:0:28:123:18:NM_001006658.2(CR2) c.3113-145C>G,NM_001006658.2(CR2) c.3113-145C>G:0.39,0.39:NOT_FOUND,NOT_FOUND 1 207653395 rs17617 C A 87 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.05711,A/0.9429;PC=0.848;Gene=CR2/NM_001006658.2/1;CC=c.3185C>A;ProtCh=p.A1062E;VC=Missense;Gene=CR2/NM_001877.4/0;CC=c.3008C>A;ProtCh=p.A1003E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:16:0:0:23:763:87.27:36.38:50.89:1.00:1.00:1.00:60:55.8:0:0:91:60:26:NM_001006658.2(CR2) c.3185C>A (p.Ala1062Glu),NM_001006658.2(CR2) c.3185C>A (p.Ala1062Glu):0.93,0.93:0.878788,0.878788 1 207653399 . G . . NT END=207658808;NT GT ./. 1 207653444 rs17258996 T A 61 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8746,A/0.1254;Gene=CR2/NM_001006658.2/1;CC=c.3188+46T>A;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.3011+46T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:8:0:0:17:530:61.03:17.15:43.88:1.00:1.00:1.00:60:63.8:0:0:125:26:15:NM_001006658.2(CR2) c.3188+46T>A,NM_001006658.2(CR2) c.3188+46T>A:0.15,0.15:0.16477,0.16477 1 207658507 rs1977465 A G 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4441,G/0.5559;PC=0.003;Gene=CR2/NM_001006658.2/1;CC=c.3189-302A>G;VC=Intron;Gene=CR2/NM_001877.4/0;CC=c.3012-302A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:128:14.71:14.71:0.00:1.00:1.00:0.00:60:44.5:0:0:69:82:19:NM_001006658.2(CR2) c.3189-302A>G,NM_001006658.2(CR2) c.3189-302A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 207658900 . T . . NT END=207669597;NT GT ./. 1 207669734 . G . . NT END=207679248;NT GT ./. 1 207669924 rs9429943 C G 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.244,G/0.756;Gene=CR1/NM_000573.3/1;CC=c.121+191C>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.121+191C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:0:0:0:17:519:59.96:0.00:59.96:1.00:0.00:1.00:60:45.4:0:0:105:46:35:NM_000573.3(CR1) c.121+191C>G,NM_000573.3(CR1) c.121+191C>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 207679229 rs4844599 T G 134 nt VT=SNV;PN=T;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.7284,C/.,G/0.2716;Gene=CR1/NM_000573.3/1;CC=c.122-20T>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.122-20T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:93:87:0:0:42,51:1421,1609:134.33,0.00:96.46,0.00:37.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.7,26.4:0,0:0,0:43,40:105,110:25,21:NM_000573.3(CR1) c.122-20T>G,-:0.2,-:0.178206,- 1 207679307 rs4844600 A G 496 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=A/0.1496,C/.,G/0.8504;Gene=CR1/NM_000573.3/1;CC=c.180A>G;ProtCh=p.E60=;VC=Silent;Gene=CR1/NM_000651.4/0;CC=c.180A>G;ProtCh=p.E60=;VC=Silent;DM=CR1/Sushi;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:130:104:0:0:130:4337:495.55:305.93:189.62:1.00:1.00:1.00:60:45.9:0:0:75:73:33:NM_000573.3(CR1) c.180A>G (p.(=)),NM_000573.3(CR1) c.180A>G (p.(=)):0.8,0.8:0.849294,0.849294 1 207679429 . G . . NT END=207680058;NT GT ./. 1 207680159 . G . . NT END=207684913;NT GT ./. 1 207685000 . G . . NT END=207696955;NT GT ./. 1 207697355 . G . . NT END=207700097;NT GT ./. 1 207700012 . T C 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=84;NP=24;Gene=CR1/NM_000573.3/1;CC=c.887-86T>C;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.887-86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:C,G,T:84:80:0:0:12,1,71:314,9,2138:22.29,-0.28,0.00:21.91,-0.23,0.00:0.38,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.85,0.00,0.00:49,41,55:26.2,122.0,9.8:0,0,0:0,0,0:133,71,31:18,80,118:16,0,26:NM_000573.3(CR1) c.887-86T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 207700275 . G . . NT END=207700365;NT GT ./. 1 207700348 rs146366639 G A 243 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=CR1/NM_000573.3/1;CC=c.1064-18G>A;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.1064-18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:71:0:0:0:71:2096:243.18:0.00:243.18:1.00:0.00:1.00:40:41.1:0:0:100:49:38:NM_000573.3(CR1) c.1064-18G>A,NM_000573.3(CR1) c.1064-18G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207700469 . G . . NT END=207702060;NT GT ./. 1 207702147 . G . . NT END=207705524;NT GT ./. 1 207705744 . G . . NT END=207706753;NT GT ./. 1 207706934 . G . . NT END=207707541;NT GT ./. 1 207707642 . G . . NT END=207713325;NT GT ./. 1 207713412 . G . . NT END=207715526;NT GT ./. 1 207715740 rs140717816 T C 22 lc VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7314,C/0.2686;NP=31;Gene=CR1/NM_000573.3/1;CC=c.1253-8340T>C;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.2051T>C;ProtCh=p.I684T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:7,10:238,301:22.15,0.00:22.15,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:27,27:55.0,25.0:0,0:0,0:54,43:97,108:41,27:NM_000573.3(CR1) c.2051T>C (p.Ile684Thr),-:NOT_FOUND,-:NOT_FOUND,- 1 207715926 . G . . NT END=207718652;NT GT ./. 1 207716099 rs75711253 A C 99 nt VT=SNV;PN=G;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=284;PC=0.165;Gene=CR1/NM_000573.3/1;CC=c.1253-7981A>C;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.2236+174A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:84:1:0:0:44,40:1440,1054:0.00,98.81:0.00,-0.14:0.00,98.95:0.00,1.00:0.00,0.65:0.00,1.00:42,27:7.7,41.4:0,0:0,0:107,90:43,60:20,26:-,NM_000573.3(CR1) c.2236+174A>C:-,NOT_FOUND:-,NOT_FOUND 1 207716188 rs148143690 T G 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=51;Gene=CR1/NM_000573.3/1;CC=c.1253-7892T>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.2236+263T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:G,T:11:0:0:0:8,3:250,97:26.01,0.00:0.00,0.00:26.01,0.00:1.00,0.00:0.00,0.00:1.00,0.00:27,27:62.6,0.0:0,0:0,0:141,141:8,9:7,0:NM_000573.3(CR1) c.2236+263T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 207718505 . C T 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;Gene=CR1/NM_000573.3/1;CC=c.1253-5575C>T;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.2237-148C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:12:0:0:12:378:43.49:43.49:0.00:1.00:1.00:0.00:25:50.2:0:0:25:124:14:NM_000573.3(CR1) c.2236+2580C>T,NM_000573.3(CR1) c.2236+2580C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207718830 . G . . NT END=207718920;NT GT ./. 1 207718903 rs150543427 G A 348 nt VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=NA;Gene=CR1/NM_000573.3/1;CC=c.1253-5177G>A;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.2414-18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:100:0:0:0:100:3006:347.86:0.00:347.86:1.00:0.00:1.00:25:38.8:0:0:89:61:42:NM_000573.3(CR1) c.2236+2978G>A,NM_000573.3(CR1) c.2236+2978G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207719024 . G . . NT END=207720615;NT GT ./. 1 207720702 . G . . NT END=207724079;NT GT ./. 1 207724299 . G . . NT END=207725308;NT GT ./. 1 207725489 . G . . NT END=207726096;NT GT ./. 1 207726000 rs115073977 G A 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=867;Gene=CR1/NM_000573.3/1;CC=c.1652-97G>A;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3002-97G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:57:57:0:0:21,1,35:663,12,1027:60.24,-0.02,0.00:60.34,-0.02,0.00:-0.10,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.58,0.00,0.00:25,48,31:68.9,219.0,3.9:0,0,0:0,0,0:67,110,42:84,41,108:34,0,28:NM_000573.3(CR1) c.2236+10075G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 207726039 rs145305229 C T 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=CR1/NM_000573.3/1;CC=c.1652-58C>T;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3002-58C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:46:0:0:31,17:1034,542:0.00,48.75:0.00,44.74:0.00,4.01:0.00,1.00:0.00,1.00:0.00,0.99:48,25:10.5,61.8:0,0:0,0:66,84:80,65:18,31:-,NM_000573.3(CR1) c.2236+10114C>T:-,NOT_FOUND:-,NOT_FOUND 1 207726161 rs200082366 G T 57 lc VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.004;Gene=CR1/NM_000573.3/1;CC=c.1716G>T;ProtCh=p.Q572H;VC=Missense;Gene=CR1/NM_000651.4/0;CC=c.3066G>T;ProtCh=p.Q1022H;VC=Missense;DM=CR1/Sushi;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:46:1:0:0:27,19:867,619:0.00,57.42:0.00,-0.23:0.00,57.65:0.00,1.00:0.00,0.61:0.00,1.00:25,25:10.4,45.9:0,0:0,0:76,87:74,64:28,37:-,NM_000573.3(CR1) c.2236+10236G>T:-,NOT_FOUND:-,NOT_FOUND 1 207726197 . G . . NT END=207731882;NT GT ./. 1 207726288 rs557359271 C CT 8 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8271,CT/0.1729;NP=2;Gene=CR1/NM_000573.3/1;CC=c.1751+92_1751+93insT;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3101+92_3101+93insT;VC=Intron;DM=CR1/Sushi;DM=CR1/Sushi;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,CT:15:0:4:0:11,4:358,100:0.00,8.13:0.00,0.00:0.00,8.13:0.00,0.76:0.00,0.00:0.00,0.76:25,25:14.0,8.8:0,0:0,0:92,103:59,48:43,22:-,NM_000573.3(CR1) c.2236+10363_2236+10364insT:-,NOT_FOUND:-,NOT_FOUND 1 207731969 . G . . NT END=207734083;NT GT ./. 1 207734483 . G . . NT END=207737208;NT GT ./. 1 207737386 . G . . NT END=207737476;NT GT ./. 1 207737459 rs71635146 G A 67 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.5268,A/0.4732,T/.;Gene=CR1/NM_000573.3/1;CC=c.2414-18G>A;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3764-18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:54:0:0:25,95:818,2937:67.11,0.00:74.00,0.00:-6.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:44.7,9.6:0,0:0,0:41,71:96,79:32,49:NM_000573.3(CR1) c.2414-18G>A,-:0.36,-:NOT_FOUND,- 1 207737580 . G . . NT END=207739182;NT GT ./. 1 207737670 rs71570064 GAC G 56 idl,rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1205;Gene=CR1/NM_000573.3/1;CC=c.2516+110_2516+111delAC;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3866+110_3866+111delAC;VC=Intron;DM=CR1/Sushi;DM=CR1/Sushi;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GAC,T,G:49:2:0:23:2,24,2,21:28,746,14,650:0.81,0.00,-0.10,55.58:-0.03,0.00,-0.03,-0.34:0.83,0.00,-0.08,55.92:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.71:0.00,0.00,0.00,1.00:60,60,60,70:99.0,9.9,109.0,30.6:0,0,1,2:0,0,0,0:33,96,79,77:117,55,67,72:7,38,8,26:-,NM_000573.3(CR1) c.2516+92_2516+93delAC:-,NOT_FOUND:-,NOT_FOUND 1 207737869 rs7521382 G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7264,A/0.2736;Gene=CR1/NM_000573.3/1;CC=c.2516+290G>A;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3866+290G>A;VC=Intron;DM=CR1/Sushi;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:10:0:0:0:4,6:96,209:8.56,0.00:0.00,0.00:8.56,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:84.0,1.7:0,0:0,0:71,121:79,29:41,20:NM_000573.3(CR1) c.2516+290G>A,-:0.19,-:NOT_FOUND,- 1 207737870 rs7544578 C A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7264,A/0.2736;PC=0.001;Gene=CR1/NM_000573.3/1;CC=c.2516+291C>A;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3866+291C>A;VC=Intron;DM=CR1/Sushi;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,C:10:0:0:0:4,6:126,200:11.59,0.00:0.00,0.00:11.59,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:84.0,1.7:0,0:0,0:72,122:78,28:41,20:NM_000573.3(CR1) c.2516+291C>A,-:0.19,-:NOT_FOUND,- 1 207739127 rs3886100 A G 134 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.6084,G/0.3916;Gene=CR1/NM_000573.3/1;CC=c.2517-56A>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3867-56A>G;VC=Intron;DM=CR1/Sushi;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:68:0:0:32,41:1063,1359:0.00,133.70:0.00,108.63:0.00,25.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,39.3:0,0:0,0:46,55:105,96:28,30:-,NM_000573.3(CR1) c.2517-56A>G:-,0.44:-,0.480176 1 207739269 . G . . NT END=207741168;NT GT ./. 1 207741009 . T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;NP=190;Gene=CR1/NM_000573.3/1;CC=c.2603-160T>C;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3953-160T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:32:32:0:0:4,28:131,857:9.78,0.00:9.78,0.00:0.00,0.00:0.63,0.00:0.63,0.00:0.00,0.00:40,60:81.5,18.6:0,0:0,0:19,54:131,96:12,37:NM_000573.3(CR1) c.2603-160T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 207741019 rs41274758 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=350;Gene=CR1/NM_000573.3/1;CC=c.2603-150C>T;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.3953-150C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,G,T:45:45:0:0:36,1,8:1110,12,228:0.00,-0.06,17.60:0.00,-0.06,17.60:0.00,0.00,0.00:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,0.00:60,51,52:15.0,60.0,59.8:0,0,0:0,0,0:28,6,10:122,145,140:26,0,8:-,NM_000573.3(CR1) c.2603-150C>T:-,NOT_FOUND:-,NOT_FOUND 1 207741388 . G . . NT END=207742403;NT GT ./. 1 207742584 . G . . NT END=207743191;NT GT ./. 1 207743292 . G . . NT END=207748939;NT GT ./. 1 207748793 rs650877 A G 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.5529,G/0.4471;Gene=CR1/NM_000573.3/1;CC=c.3102-147A>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.4452-147A>G;VC=Intron;DM=CR1/Sushi;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:45:0:0:21,24:697,782:0.00,76.14:0.00,76.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.5,44.4:0,0:0,0:32,35:119,115:26,12:-,NM_000573.3(CR1) c.3102-147A>G:-,0.34:-,NOT_FOUND 1 207749026 . G . . NT END=207751149;NT GT ./. 1 207749188 rs12757487 G A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7055,A/0.2945;Gene=CR1/NM_000573.3/1;CC=c.3187+163G>A;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.4537+163G>A;VC=Intron;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:0:0:0:10,23:251,749:21.06,0.00:0.00,0.00:21.06,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.7,5.7:0,0:0,0:50,102:100,49:33,19:NM_000573.3(CR1) c.3187+163G>A,-:0.22,-:NOT_FOUND,- 1 207751549 . G . . NT END=207753584;NT GT ./. 1 207753345 rs2274566 C T 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6172,T/0.3828;Gene=CR1/NM_000573.3/1;CC=c.3587-240C>T;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.4937-240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:6:6:0:0:2,4:68,116:0.00,11.84:0.00,11.84:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,44.2:0,0:0,0:24,56:126,93:21,20:-,NM_000573.3(CR1) c.3587-240C>T:-,0.44:-,NOT_FOUND 1 207753621 rs2274567 A G 167 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=170;DB;DBA=NA;PAF=A/0.7057,G/0.2943;Gene=CR1/NM_000573.3/1;CC=c.3623A>G;ProtCh=p.H1208R;VC=Missense;Gene=CR1/NM_000651.4/0;CC=c.4973A>G;ProtCh=p.H1658R;VC=Missense;DM=CR1/Sushi;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:170:136:0:0:109,1,60:3519,21,1865:0.00,0.23,167.35:0.00,0.34,116.22:0.00,-0.11,51.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,59,60:9.8,176.0,35.3:0,0,0:0,0,0:71,56,65:79,95,83:27,0,30:-,NM_000573.3(CR1) c.3623A>G (p.His1208Arg):-,0.22:-,0.196061 1 207753762 . G . . NT END=207753855;NT GT ./. 1 207753831 . C CT 37 idl,rn VT=INS;SST=Single;DP=116;Gene=CR1/NM_000573.3/1;CC=c.3764-11_3764-10insT;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.5114-11_5114-10insT;VC=Intron;DM=CR1/Sushi;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T,CT,D:110:49:15:19:81,1,15,13:2560,24,480,597:0.00,0.57,36.98,30.58:0.00,-0.10,12.68,15.84:0.00,0.67,24.30,14.75:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,70,60:20.6,48.0,17.8,49.5:0,0,0,6:0,0,0,0:104,4,56,63:47,144,93,86:40,0,43,53:-,NM_000573.3(CR1) c.3764-25_3764-24insT:-,NOT_FOUND:-,NOT_FOUND 1 207753959 . G . . NT END=207755262;NT GT ./. 1 207755349 . G . . NT END=207757993;NT GT ./. 1 207757936 rs646817 A G 60 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.5152,G/0.4848;Gene=CR1/NM_000573.3/1;CC=c.3953-58A>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.5303-58A>G;VC=Intron;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:52:0:0:29,24:909,647:0.00,60.17:0.00,59.43:0.00,0.73:0.00,1.00:0.00,1.00:0.00,0.96:60,60:27.3,40.1:0,0:0,0:38,65:112,86:30,31:-,NM_000573.3(CR1) c.3953-58A>G:-,0.38:-,NOT_FOUND 1 207758222 . G . . NT END=207760730;NT GT ./. 1 207758232 rs1752688 A G 361 nt VT=SNV;PN=C;NN=C;SST=Single;DP=217;DB;DBA=NA;PAF=A/0.5152,G/0.4848,T/.;Gene=CR1/NM_000573.3/1;CC=c.4180+11A>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.5530+11A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:217:96:0:0:101,116:3179,3715:0.00,361.48:0.00,92.07:0.00,269.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,39.4:0,0:0,0:102,104:48,47:22,24:-,NM_000573.3(CR1) c.4180+11A>G:-,0.38:-,0.381784 1 207760906 rs61734513 T C 103 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.9982,C/0.001797;NP=49;PC=0.818;Gene=CR1/NM_000573.3/1;CC=c.4356T>C;ProtCh=p.C1452=;VC=Silent;Gene=CR1/NM_000651.4/0;CC=c.5706T>C;ProtCh=p.C1902=;VC=Silent;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:39:0:0:31,35:1077,1109:102.68,0.00:44.64,0.00:58.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,5.9:0,0:0,0:88,82:61,66:37,27:NM_000573.3(CR1) c.4356T>C (p.(=)),-:0.0032,-:0.008619,- 1 207760911 . G . . NT END=207762019;NT GT ./. 1 207762120 . G . . NT END=207780595;NT GT ./. 1 207780682 . G . . NT END=207782634;NT GT ./. 1 207782916 rs4844609 A T 398 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=A/0.004992,T/0.995;Gene=CR1/NM_000573.3/1;CC=c.4828A>T;ProtCh=p.T1610S;VC=Missense;Gene=CR1/NM_000651.4/0;CC=c.6178A>T;ProtCh=p.T2060S;VC=Missense;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:110:68:0:0:110:3455:397.64:189.30:208.34:1.00:1.00:1.00:60:54.2:0:0:75:73:42:NM_000573.3(CR1) c.4828A>T (p.Thr1610Ser),NM_000573.3(CR1) c.4828A>T (p.Thr1610Ser):0.99,0.99:0.981543,0.981543 1 207782931 rs6691117 A G 206 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.5066,G/0.4934;PC=0.801;Gene=CR1/NM_000573.3/1;CC=c.4843A>G;ProtCh=p.I1615V;VC=Missense;Gene=CR1/NM_000651.4/0;CC=c.6193A>G;ProtCh=p.I2065V;VC=Missense;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:107:69:0:0:41,66:1257,2059:0.00,206.36:0.00,90.01:0.00,116.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.1,64.3:0,0:0,0:69,64:82,83:31,40:-,NM_000573.3(CR1) c.4843A>G (p.Ile1615Val):-,0.39:-,0.384291 1 207783034 . G . . NT END=207785021;NT GT ./. 1 207784968 rs3818361 A G 320 nt VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.2486,G/0.7514;Gene=CR1/NM_000573.3/1;CC=c.4946-54A>G;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.6296-54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:85:76:0:0:1,84:28,2820:0.00,319.64:0.00,244.02:0.00,75.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,38.3:0,0:0,0:1,46:150,103:0,26:NM_000573.3(CR1) c.4946-54A>G,NM_000573.3(CR1) c.4946-54A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 207785199 . G . . NT END=207785283;NT GT ./. 1 207785387 . G . . NT END=207787748;NT GT ./. 1 207787835 . G . . NT END=207789919;NT GT ./. 1 207790088 rs3811381 C G 354 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=244;DB;DBA=NA;PAF=C/0.7372,A/.,G/0.2628;Gene=CR1/NM_000573.3/1;CC=c.5480C>G;ProtCh=p.P1827R;VC=Missense;Gene=CR1/NM_000651.4/0;CC=c.6830C>G;ProtCh=p.P2277R;VC=Missense;DM=CR1/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:244:161:0:0:126,118:4168,3719:0.00,354.46:0.00,157.32:0.00,197.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,41.6:0,0:0,0:66,66:80,81:26,25:-,NM_000573.3(CR1) c.5480C>G (p.Pro1827Arg):-,0.2:-,0.164669 1 207790148 . G . . NT END=207791415;NT GT ./. 1 207791593 . G . . NT END=207793224;NT GT ./. 1 207793411 . G . . NT END=207795317;NT GT ./. 1 207795320 rs2296160 A G 150 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.1719,G/0.8281;Gene=CR1/NM_000573.3/1;CC=c.5905A>G;ProtCh=p.T1969A;VC=Missense;Gene=CR1/NM_000651.4/0;CC=c.7255A>G;ProtCh=p.T2419A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:28:0:0:39:1315:150.03:81.93:68.10:1.00:1.00:1.00:60:37.6:0:0:82:64:27:NM_000573.3(CR1) c.5905A>G (p.Thr1969Ala),NM_000573.3(CR1) c.5905A>G (p.Thr1969Ala):0.79,0.79:0.817006,0.817006 1 207795342 . G . . NT END=207796337;NT GT ./. 1 207796228 . TA T 7 rn VT=DEL;SST=Single;DP=17;NP=2;PC=0.002;Gene=CR1/NM_000573.3/1;CC=c.5927-98delA;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.7277-98delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,TA,I,T:17:17:2:3:1,11,2,3:34,358,65,90:2.36,0.00,5.00,7.24:2.36,0.00,5.00,7.24:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.53:0.00,0.00,0.00,0.53:0.00,0.00,0.00,0.00:60,60,60,60:34.0,5.8,27.0,10.0:1,0,0,0:0,0,0,0:113,80,67,63:38,70,83,87:0,25,57,39:-,NM_000573.3(CR1) c.5927-109delA:-,NOT_FOUND:-,NOT_FOUND 1 207796414 . G . . NT END=207803861;NT GT ./. 1 207796627 rs67144627 CA C 17 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=475;Gene=CR1/NM_000573.3/1;CC=c.6002+223delA;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.7352+223delA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:5:5:149:17.28:0.00:17.28:1.00:0.00:1.00:60:13.4:0:0:137:14:2:NM_000573.3(CR1) c.6002+215delA,NM_000573.3(CR1) c.6002+215delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207796897 rs10863417 A T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1276,T/0.8724;PC=0.001;Gene=CR1/NM_000573.3/1;CC=c.6002+484A>T;VC=Intron;Gene=CR1/NM_000651.4/0;CC=c.7352+484A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:4:0:0:5:135:15.84:8.44:7.40:1.00:1.00:1.00:60:29.8:0:0:58:76:12:NM_000573.3(CR1) c.6002+484A>T,NM_000573.3(CR1) c.6002+484A>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 207803967 . G . . NT END=207812741;NT GT ./. 1 207812755 . C . . NT END=207818578;NT GT ./. 1 207812791 rs41274776 A G 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.8804,G/0.1196;PC=0.001;Gene=CR1/NM_000573.3/1;CC=c.*37A>G;VC=3UTR;Gene=CR1/NM_000651.4/0;CC=c.*37A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:28:0:0:15,24:494,796:0.00,79.74:0.00,36.83:0.00,42.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,37.0:0,0:0,0:91,104:60,44:26,20:-,NM_000573.3(CR1) c.*37A>G:-,0.13:-,0.052289 1 207813021 rs187763285 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=6;Gene=CR1/NM_000573.3/1;CC=c.*267G>A;VC=3UTR;Gene=CR1/NM_000651.4/0;CC=c.*267G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:6:0:0:0:3,3:93,101:8.92,0.00:0.00,0.00:8.92,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:31.0,0.0:0,0:0,0:121,136:30,15:5,14:NM_000573.3(CR1) c.*267G>A,-:0.0009,-:NOT_FOUND,- 1 207818422 rs3738469 G A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.8768,A/0.1232 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,G:14:14:0:0:9,5:309,156:31.23,0.00:31.45,0.00:-0.22,0.00:1.00,0.00:1.00,0.00:0.76,0.00:60,60:34.3,6.6:0,0:0,0:47,102:104,49:18,10:NM_175710.1(CR1L) c.-121-u36G>A,-:0.13,-:NOT_FOUND,- 1 207818676 . G . . NT END=207850733;NT GT ./. 1 207818719 rs11118237 G A 85 nt VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.7075,A/0.2925;Gene=CR1L/NM_175710.1/1;CC=c.97+44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:19:0:0:31,36:900,1208:84.63,0.00:15.60,0.00:69.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,6.3:0,0:0,0:109,112:32,39:24,21:NM_175710.1(CR1L) c.97+44G>A,-:0.31,-:0.338588,- 1 207830383 rs10082154 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5401,C/0.4599;Gene=CR1L/NM_175710.1/1;CC=c.97+11708T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,T:5:5:0:0:3,2:98,37:9.81,0.00:9.81,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:40.0,10.5:0,0:0,0:42,34:108,116:27,3:NM_175710.1(CR1L) c.97+11708T>C,-:0.42,-:NOT_FOUND,- 1 207842704 rs17045979 T C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8764,C/0.1236;Gene=CR1L/NM_175710.1/1;CC=c.98-8030T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:14:0:0:8,7:273,232:26.62,0.00:20.91,0.00:5.71,0.00:1.00,0.00:1.00,0.00:0.82,0.00:60,60:36.6,4.7:0,0:0,0:46,73:105,78:26,33:NM_175710.1(CR1L) c.98-8030T>C,-:0.13,-:NOT_FOUND,- 1 207842738 rs66944170 TATTTCAGTTTTCTTCGAG T 14 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TATTTCAGTTTTCTTCGAG/0.6252,T/0.3748;DB;DBA=NA;PAF=TATTTCAGTTTTCTTCGAG/0.6252,T/0.3748;NP=187;Gene=CR1L/NM_175710.1/1;CC=c.98-7993_98-7976delTTCAGTTTTCTTCGAGAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:TATTTCAGTTTTCTTCGAG,T:18:16:0:5:13,5:372,167:0.00,14.48:0.00,14.84:0.00,-0.35:0.00,0.87:0.00,0.98:0.00,0.65:60,60:33.0,0.0:0,0:0,0:47,91:77,60:30,16:-,NM_175710.1(CR1L) c.98-7995_98-7978delATTTCAGTTTTCTTCGAG:-,NOT_FOUND:-,NOT_FOUND 1 207843000 rs55821028 G A 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8768,A/0.1232;Gene=CR1L/NM_175710.1/1;CC=c.98-7734G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:20:0:0:0:8,1,11:225,9,383:20.66,0.05,0.00:0.00,0.00,0.00:20.66,0.05,0.00:0.99,0.00,0.00:0.00,0.00,0.00:0.99,0.00,0.00:60,60,60:30.1,98.0,6.9:0,0,0:0,0,0:99,15,112:51,136,39:22,0,22:NM_175710.1(CR1L) c.98-7734G>A,-:0.13,-:NOT_FOUND,- 1 207850539 rs11118328 C T 92 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.07548,T/0.9245;PC=0.001;Gene=CR1L/NM_175710.1/1;CC=c.98-195C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:27:0:0:27:796:92.43:92.43:0.00:1.00:1.00:0.00:60:60.7:0:0:43:108:30:NM_175710.1(CR1L) c.98-195C>T,NM_175710.1(CR1L) c.98-195C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 1 207850560 rs67422482 A G 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.6683,G/0.3317;PC=0.001;Gene=CR1L/NM_175710.1/1;CC=c.98-174A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:30:0:0:14,16:470,393:0.00,37.81:0.00,37.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.6,81.1:0,0:0,0:54,61:96,89:28,31:-,NM_175710.1(CR1L) c.98-174A>G:-,0.34:-,NOT_FOUND 1 207850589 rs34451130 A C 46 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.6685,C/0.3315;PC=0.011;Gene=CR1L/NM_175710.1/1;CC=c.98-145A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:30:0:0:15,15:476,474:0.00,45.52:0.00,45.52:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:32.2,84.7:0,0:0,0:71,66:79,84:26,26:-,NM_175710.1(CR1L) c.98-145A>C:-,0.35:-,NOT_FOUND 1 207850652 rs57151160 CAAAAAA C 17 idl,nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=CR1L/NM_175710.1/1;CC=c.98-57_98-52delAAAAAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,CAAAAAA,I,C:27:30:2:10:2,17,2,6:42,561,68,329:2.38,0.00,4.88,16.60:1.80,0.00,4.88,16.60:0.58,0.00,0.00,0.00:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.46:60,60,60,60:69.5,59.6,38.5,82.5:0,0,0,4:0,0,0,0:2,120,84,47:148,29,44,104:0,10,18,16:-,NM_175710.1(CR1L) c.98-81_98-76delAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 207850717 rs74231794 G A 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.8788,A/0.1212;PC=0.164;Gene=CR1L/NM_175710.1/1;CC=c.98-17G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:106:74:0:0:37,66,3:1170,2116,44:105.43,0.00,1.03:51.25,0.00,-0.03:54.18,0.00,1.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.7,12.2,93.3:0,0,0:0,0,0:30,39,84:116,110,40:14,19,22:NM_175710.1(CR1L) c.98-17G>A,-:0.13,-:0.050687,- 1 207850879 rs34509370 C T 163 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.8932,T/0.1068;Gene=CR1L/NM_175710.1/1;CC=c.243C>T;ProtCh=p.N81=;VC=Silent;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:111:53:0:0:56,1,54:1945,26,1708:0.00,0.85,163.39:0.00,-0.09,42.21:0.00,0.94,121.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.9,26.0,35.3:0,0,0:0,0,0:70,2,88:72,149,59:32,0,23:-,NM_175710.1(CR1L) c.243C>T (p.(=)):-,0.14:-,0.20402 1 207850914 . G . . NT END=207851542;NT GT ./. 1 207851487 rs397840139 T TA 42 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.879,TA/0.121;DB;DBA=NA;PAF=T/0.879,TA/0.121;NP=384;Gene=CR1L/NM_175710.1/1;CC=c.278-47dupA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TA:33:32:15:0:1,18,14:8,580,484:-0.07,0.00,42.25:-0.04,0.00,34.44:-0.03,0.00,7.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:42,60,60:89.0,13.8,14.1:0,0,1:0,0,0:147,58,30:0,92,118:0,28,20:-,NM_175710.1(CR1L) c.278-56_278-55insA:-,0.13:-,NOT_FOUND 1 207851611 rs2296158 A G 190 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.4734,G/0.5266;PC=1.000;Gene=CR1L/NM_175710.1/1;CC=c.346A>G;ProtCh=p.R116G;VC=Missense;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G:57:36:0:0:57:1638:190.47:84.36:106.11:1.00:1.00:1.00:70:37.0:0:0:96:54:27:NM_175710.1(CR1L) c.346A>G (p.Arg116Gly),NM_175710.1(CR1L) c.346A>G (p.Arg116Gly):0.52,0.52:0.508746,0.508746 1 207851643 . G . . NT END=207857216;NT GT ./. 1 207851760 rs2296159 G A 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6685,A/0.3315;PC=0.005;Gene=CR1L/NM_175710.1/1;CC=c.377+118G>A;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:19:0:0:0:7,12:200,377:17.89,0.00:0.00,0.00:17.89,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:31.3,22.6:0,0:0,0:94,97:57,53:25,33:NM_175710.1(CR1L) c.377+118G>A,-:0.35,-:NOT_FOUND,- 1 207851806 rs72644190 G T 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.8391,T/0.1609;Gene=CR1L/NM_175710.1/1;CC=c.377+164G>T;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:14:0:0:0:7,7:221,205:0.00,19.59:0.00,0.00:0.00,19.59:0.00,0.99:0.00,0.00:0.00,0.99:60,60:42.4,38.7:0,0:0,0:114,93:37,57:28,36:-,NM_175710.1(CR1L) c.377+164G>T:-,0.15:-,NOT_FOUND 1 207857158 rs12411037 T C 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.7021,C/0.2979;PC=0.001;Gene=CR1L/NM_175710.1/1;CC=c.378-59T>C;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:39:0:0:25,18:835,559:82.75,0.00:65.66,0.00:17.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,22.9:0,0:0,0:41,37:110,108:29,21:NM_175710.1(CR1L) c.378-59T>C,-:0.32,-:NOT_FOUND,- 1 207857254 rs3085 A G 79 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.8389,G/0.1611;Gene=CR1L/NM_175710.1/1;CC=c.415A>G;ProtCh=p.I139V;VC=Missense;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:60:44:0:0:33,1,26:1108,8,837:0.00,-0.15,78.52:0.00,-0.01,50.23:0.00,-0.14,28.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,60:15.2,47.0,38.0:0,0,0:0,0,0:83,137,90:58,14,53:26,0,30:-,NM_175710.1(CR1L) c.415A>G (p.Ile139Val):-,0.15:-,0.088235 1 207857303 . G . . NT END=207867697;NT GT ./. 1 207868097 . G . . NT END=207870847;NT GT ./. 1 207870682 rs111340461 A C 76 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.8774,C/0.1226;PC=0.002;Gene=CR1L/NM_175710.1/1;CC=c.863-166A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:53:53:0:0:27,26:869,795:0.00,75.90:0.00,76.04:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.66:60,60:7.1,49.5:0,0:0,0:50,43:101,102:25,22:-,NM_175710.1(CR1L) c.863-166A>C:-,0.13:-,NOT_FOUND 1 207871025 . G . . NT END=207871115;NT GT ./. 1 207871219 . G . . NT END=207872533;NT GT ./. 1 207871320 rs45575738 G C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.8706,C/0.1294;Gene=CR1L/NM_175710.1/1;CC=c.1142+102G>C;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,D:29:1:0:3:1,12,15,1:10,392,455,46:0.05,36.84,0.00,1.88:0.00,1.79,0.00,0.00:0.05,35.05,0.00,1.88:0.00,1.00,0.00,0.00:0.00,0.60,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:20.0,45.7,14.5,12.0:0,0,0,1:0,0,0,0:20,89,109,86:130,57,41,64:0,19,26,40:NM_175710.1(CR1L) c.1142+102G>C,-:0.15,-:NOT_FOUND,- 1 207872290 rs7527798 T C 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8886,C/0.1114;PC=0.001;Gene=CR1L/NM_175710.1/1;CC=c.1143-244T>C;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:227,226:21.83,0.00:21.83,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:44.4,15.3:0,0:0,0:24,61:127,90:15,19:NM_175710.1(CR1L) c.1143-244T>C,-:0.14,-:NOT_FOUND,- 1 207872507 rs41313728 G A 143 nt VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.7883,A/0.2117;Gene=CR1L/NM_175710.1/1;CC=c.1143-27G>A;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:65:0:0:46,36:1452,1176:142.73,0.00:99.18,0.00:43.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,29.8:0,0:0,0:47,38:100,112:25,23:NM_175710.1(CR1L) c.1143-27G>A,-:0.15,-:0.136188,- 1 207872595 rs12729569 A G 146 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.8884,G/0.1116;PC=1.000;Gene=CR1L/NM_175710.1/1;CC=c.1204A>G;ProtCh=p.N402D;VC=Missense;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:58:0:0:51,46:1592,1528:0.00,145.63:0.00,64.23:0.00,81.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.9,54.4:0,0:0,0:93,91:56,50:30,35:-,NM_175710.1(CR1L) c.1204A>G (p.Asn402Asp):-,0.14:-,0.208382 1 207872620 . G . . NT END=207874863;NT GT ./. 1 207872657 rs12748243 C T 85 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.8884,T/0.1116;Gene=CR1L/NM_175710.1/1;CC=c.1228+38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:22:0:0:30,27:929,890:0.00,84.77:0.00,22.51:0.00,62.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,61.2:0,0:0,0:115,101:31,50:19,28:-,NM_175710.1(CR1L) c.1228+38C>T:-,0.14:-,0.208542 1 207874739 rs34828104 C G 81 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.6767,G/0.3233;Gene=CR1L/NM_175710.1/1;CC=c.1229-125C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:22:0:0:22:703:80.78:80.78:0.00:1.00:1.00:0.00:60:33.6:0:0:56:95:29:NM_175710.1(CR1L) c.1229-125C>G,NM_175710.1(CR1L) c.1229-125C>G:0.33,0.33:NOT_FOUND,NOT_FOUND 1 207874964 . G . . NT END=207881522;NT GT ./. 1 207875116 rs150293968 GAGA G 15 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=GAGA/0.878,G/0.122;NP=158;Gene=CR1L/NM_175710.1/1;CC=c.1328+157_1328+159delAGA;VC=Intron;DM=CR1L/Sushi;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,GAGA,G:23:0:0:6:1,16,6:10,470,175:0.02,0.00,14.77:0.00,0.00,0.00:0.02,0.00,14.77:0.00,0.00,0.92:0.00,0.00,0.00:0.00,0.00,0.92:60,60,60:109.0,12.8,9.7:0,0,0:0,0,0:71,72,91:79,76,60:0,37,24:-,NM_175710.1(CR1L) c.1328+154_1328+156delAGA:-,0.13:-,NOT_FOUND 1 207881130 rs10909339 T TACACACAC 8 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=2;NP=58;PC=0.002;Gene=CR1L/NM_175710.1/1;CC=c.1329-358_1329-357insCACACACA;VC=Intron;DM=CR1L/Sushi;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TACACACAC:5:5:4:0:2,3:66,114:0.00,7.92:0.00,4.60:0.00,3.33:0.00,0.73:0.00,0.96:0.00,0.79:60,70:0.0,115.7:0,1:0,0:56,37:36,113:0,1:-,NM_175710.1(CR1L) c.1329-393_1329-392insACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 207881166 rs1570564 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2903,C/0.7097;Gene=CR1L/NM_175710.1/1;CC=c.1329-357T>C;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T:6:4:0:0:5,1:176,8:18.93,0.00:10.93,0.00:8.00,0.00:0.99,0.00:1.00,0.00:0.98,0.00:60,70:67.6,145.0:0,0:0,0:80,80:71,71:32,0:NM_175710.1(CR1L) c.1329-357T>C,NM_175710.1(CR1L) c.1329-357T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 1 207881256 rs1570565 G A,C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2947,A/0.7053;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C:6:3:0:0:5,1:164,13:18.39,1.01:5.60,1.01:12.79,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:56.6,72.0:0,0:0,0:122,20:26,131:16,0:NM_175710.1(CR1L) c.1329-267G>A,NM_175710.1(CR1L) c.1329-267G>C:0.68,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207881485 rs11302038 TA T 249 nt VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=TA/0.2558,T/0.7442;NP=2852;Gene=CR1L/NM_175710.1/1;CC=c.1329-37delA;VC=Intron;DM=CR1L/Sushi;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:171:TA,T:71:63:0:70:1,70:32,2176:0.00,248.65:0.00,184.36:0.00,64.29:0.00,1.00:0.00,1.00:0.00,1.00:58,60:114.0,94.4:0,0:0,0:56,43:95,102:0,24:NM_175710.1(CR1L) c.1329-37delA,NM_175710.1(CR1L) c.1329-37delA:NOT_FOUND,NOT_FOUND:0.611775,0.611775 1 207881489 rs35438924 T G 249 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.2943,C/.,G/0.7057;NP=1;Gene=CR1L/NM_175710.1/1;CC=c.1329-34T>G;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G,T:71:62:0:0:69,2:2196,26:248.90,0.00:179.19,0.00:69.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:93.5,126.5:69,2:0,0:45,77:96,62:24,17:NM_175710.1(CR1L) c.1329-34T>G,NM_175710.1(CR1L) c.1329-34T>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 207881491 rs34277355 C A 240 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.2943,A/0.7057;Gene=CR1L/NM_175710.1/1;CC=c.1329-32C>A;VC=Intron;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:A,C:70:61:0:1:68,2:2114,22:240.24,0.00:176.67,0.00:63.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,59:91.8,97.5:68,2:0,0:61,64:83,87:31,50:NM_175710.1(CR1L) c.1329-32C>A,NM_175710.1(CR1L) c.1329-32C>A:0.68,0.68:0.58,0.58 1 207881557 rs6683902 A G 423 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=A/0.2947,G/0.7053;Gene=CR1L/NM_175710.1/1;CC=c.1363A>G;ProtCh=p.I455V;VC=Missense;DM=CR1L/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:114:78:0:0:113,1:3702,10:423.41,0.09:218.44,0.09:204.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.1,168.0:0,0:0,0:74,134:65,17:28,0:NM_175710.1(CR1L) c.1363A>G (p.Ile455Val),NM_175710.1(CR1L) c.1363A>G (p.Ile455Val):0.68,0.68:0.61726,0.61726 1 207881609 . G . . NT END=207890808;NT GT ./. 1 207883907 rs3927459 T G 762 nt VT=SNV;PN=G;NN=C;SST=Single;DP=207;DB;DBA=NA;PAF=T/0.2622,G/0.7378;PC=0.841;Gene=CR1L/NM_175710.1/1;CC=c.1414+2299T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:207:147:0:0:206,1:6671,23:762.23,0.00:381.87,0.00:380.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,36.0:0,0:0,0:75,18:76,133:34,0:NM_175710.1(CR1L) c.1414+2299T>G,NM_175710.1(CR1L) c.1414+2299T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 1 207884105 rs10779386 C A 293 nt VT=SNV;PN=G;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.272,A/0.728;PC=0.169;Gene=CR1L/NM_175710.1/1;CC=c.1414+2497C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:84:14:0:0:84:2528:292.68:33.58:259.10:1.00:1.00:1.00:60:72.1:0:0:102:47:33:NM_175710.1(CR1L) c.1414+2497C>A,NM_175710.1(CR1L) c.1414+2497C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 207884107 rs10779387 G A 311 nt VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.272,A/0.728;Gene=CR1L/NM_175710.1/1;CC=c.1414+2499G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:83:13:0:0:82,1:2724,6:310.96,0.04:32.91,0.00:278.05,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,54:71.4,139.0:0,0:0,0:96,117:53,32:32,0:NM_175710.1(CR1L) c.1414+2499G>A,NM_175710.1(CR1L) c.1414+2499G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 207884287 rs12132176 A T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2664,T/0.7336;Gene=CR1L/NM_175710.1/1;CC=c.1414+2679A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:0:0:0:15:441:51.17:0.00:51.17:1.00:0.00:1.00:60:72.2:0:0:116:35:26:NM_175710.1(CR1L) c.1414+2679A>T,NM_175710.1(CR1L) c.1414+2679A>T:0.69,0.69:NOT_FOUND,NOT_FOUND 1 207884292 rs12132968 T C 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2678,C/0.7322;Gene=CR1L/NM_175710.1/1;CC=c.1414+2684T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:439:50.99:0.00:50.99:1.00:0.00:1.00:60:72.2:0:0:121:30:26:NM_175710.1(CR1L) c.1414+2684T>C,NM_175710.1(CR1L) c.1414+2684T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 1 207885845 rs1819221 A G 122 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.4195,G/0.5805;Gene=CR1L/NM_175710.1/1;CC=c.1414+4237A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:28:0:0:32:1066:121.86:95.47:26.39:1.00:1.00:1.00:60:69.2:0:0:39:111:24:NM_175710.1(CR1L) c.1414+4237A>G,NM_175710.1(CR1L) c.1414+4237A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 207885881 rs1819222 C T 164 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.3337,T/0.6663;Gene=CR1L/NM_175710.1/1;CC=c.1414+4273C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:T:43:36:0:0:43:1432:163.67:119.28:44.38:1.00:1.00:1.00:60:60.1:0:0:59:87:32:NM_175710.1(CR1L) c.1414+4273C>T,NM_175710.1(CR1L) c.1414+4273C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 1 207886150 rs1359147 C T 140 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3041,T/0.6959;PC=0.001;Gene=CR1L/NM_175710.1/1;CC=c.1414+4542C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:13:0:0:36:1233:140.47:32.65:107.82:1.00:1.00:1.00:60:37.5:0:0:69:57:43:NM_175710.1(CR1L) c.1414+4542C>T,NM_175710.1(CR1L) c.1414+4542C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 207888739 rs7553211 G T 121 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.4307,T/0.5693;PC=0.999;Gene=CR1L/NM_175710.1/1;CC=c.1415-2070G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:18:0:0:32:1058:121.06:40.01:81.05:1.00:1.00:1.00:60:41.1:0:0:87:52:30:NM_175710.1(CR1L) c.1415-2070G>T,NM_175710.1(CR1L) c.1415-2070G>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 207890568 rs3849268 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4205,A/0.5795;Gene=CR1L/NM_175710.1/1;CC=c.1415-241G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:106:12.47:12.47:0.00:1.00:1.00:0.00:60:40.0:0:0:23:127:20:NM_175710.1(CR1L) c.1415-241G>A,NM_175710.1(CR1L) c.1415-241G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 1 207891037 . G . . NT END=207896962;NT GT ./. 1 207897031 . C . . NT END=207925557;NT GT ./. 1 207925655 . G . . NT END=207930358;NT GT ./. 1 207930203 rs2724384 G A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1554,A/0.8446;Gene=CD46/NM_002389.4/1;CC=c.98-156G>A;VC=Intron;Gene=CD46/NM_153826.3/0;CC=c.98-156G>A;VC=Intron;Gene=CD46/NM_172350.2/0;CC=c.98-156G>A;VC=Intron;Gene=CD46/NM_172351.2/0;CC=c.98-156G>A;VC=Intron;Gene=CD46/NM_172352.2/0;CC=c.98-156G>A;VC=Intron;Gene=CD46/NM_172353.2/0;CC=c.98-156G>A;VC=Intron;Gene=CD46/NM_172359.2/0;CC=c.98-156G>A;VC=Intron;Gene=CD46/NM_172361.2/0;CC=c.98-156G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,C:9:9:0:0:8,1:229,13:26.21,0.86:26.21,0.86:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.1,125.0:0,0:0,0:44,113:106,-4:24,0:NM_002389.4(CD46) c.98-156G>A,NM_002389.4(CD46) c.98-156G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 207930459 rs150429980 A T 55 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=4;PC=0.372;Gene=CD46/NM_002389.4/1;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;Gene=CD46/NM_153826.3/0;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;Gene=CD46/NM_172350.2/0;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;Gene=CD46/NM_172351.2/0;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;Gene=CD46/NM_172352.2/0;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;Gene=CD46/NM_172353.2/0;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;Gene=CD46/NM_172359.2/0;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;Gene=CD46/NM_172361.2/0;CC=c.198A>T;ProtCh=p.K66N;VC=Missense;DM=CD46/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:36:22:0:0:18,18:573,571:0.00,54.83:0.00,24.00:0.00,30.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,52.8:0,0:0,0:74,56:60,90:35,32:-,NM_002389.4(CD46) c.198A>T (p.Lys66Asn):-,NOT_FOUND:-,0.000384 1 207930548 . G . . NT END=207930884;NT GT ./. 1 207930988 . G . . NT END=207932983;NT GT ./. 1 207931175 rs2466573 T G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.007588,G/0.9924;PC=0.097;Gene=CD46/NM_002389.4/1;CC=c.389+188T>G;VC=Intron;Gene=CD46/NM_153826.3/0;CC=c.389+188T>G;VC=Intron;Gene=CD46/NM_172350.2/0;CC=c.389+188T>G;VC=Intron;Gene=CD46/NM_172351.2/0;CC=c.389+188T>G;VC=Intron;Gene=CD46/NM_172352.2/0;CC=c.389+188T>G;VC=Intron;Gene=CD46/NM_172353.2/0;CC=c.389+188T>G;VC=Intron;Gene=CD46/NM_172359.2/0;CC=c.389+188T>G;VC=Intron;Gene=CD46/NM_172361.2/0;CC=c.389+188T>G;VC=Intron;DM=CD46/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:176:20.46:0.00:20.46:1.00:0.00:1.00:60:40.5:0:0:129:20:14:NM_002389.4(CD46) c.389+188T>G,NM_002389.4(CD46) c.389+188T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 207933070 . G . . NT END=207934593;NT GT ./. 1 207934487 rs2466572 A C 57 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.1665,C/0.8335;PC=0.002;Gene=CD46/NM_002389.4/1;CC=c.476-107A>C;VC=Intron;Gene=CD46/NM_153826.3/0;CC=c.476-107A>C;VC=Intron;Gene=CD46/NM_172350.2/0;CC=c.476-107A>C;VC=Intron;Gene=CD46/NM_172351.2/0;CC=c.476-107A>C;VC=Intron;Gene=CD46/NM_172352.2/0;CC=c.476-107A>C;VC=Intron;Gene=CD46/NM_172353.2/0;CC=c.476-107A>C;VC=Intron;Gene=CD46/NM_172359.2/0;CC=c.476-107A>C;VC=Intron;Gene=CD46/NM_172361.2/0;CC=c.476-107A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:490:56.96:55.02:1.94:1.00:1.00:1.00:60:36.5:0:0:46:105:27:NM_002389.4(CD46) c.476-107A>C,NM_002389.4(CD46) c.476-107A>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 207934792 . G . . NT END=207940357;NT GT ./. 1 207940541 . G . . NT END=207940951;NT GT ./. 1 207940997 . G . . NT END=207941123;NT GT ./. 1 207941169 . G . . NT END=207943665;NT GT ./. 1 207941191 rs2724374 G T 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.1669,T/0.8331;PC=0.001;Gene=CD46/NM_002389.4/1;CC=c.946+23G>T;VC=Intron;Gene=CD46/NM_153826.3/0;CC=c.901+23G>T;VC=Intron;Gene=CD46/NM_172350.2/0;CC=c.856+651G>T;VC=Intron;Gene=CD46/NM_172351.2/0;CC=c.901+23G>T;VC=Intron;Gene=CD46/NM_172352.2/0;CC=c.856+651G>T;VC=Intron;Gene=CD46/NM_172353.2/0;CC=c.856+651G>T;VC=Intron;Gene=CD46/NM_172359.2/0;CC=c.946+23G>T;VC=Intron;Gene=CD46/NM_172361.2/0;CC=c.856+651G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:9:0:0:19:597:68.73:22.56:46.17:1.00:1.00:1.00:60:37.6:0:0:110:30:31:NM_002389.4(CD46) c.946+23G>T,NM_002389.4(CD46) c.946+23G>T:0.83,0.83:0.789065,0.789065 1 207943708 . G . . NT END=207956636;NT GT ./. 1 207956676 . G . . NT END=207958415;NT GT ./. 1 207958452 . G . . NT END=207958963;NT GT ./. 1 207959028 . G . . NT END=207963597;NT GT ./. 1 207959122 rs565796000 CTT C 39 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=70;PC=0.044;Gene=CD46/NM_002389.4/1;CC=c.1127+108_1127+109delTT;VC=Intron;Gene=CD46/NM_153826.3/0;CC=c.1082+108_1082+109delTT;VC=Intron;Gene=CD46/NM_172350.2/0;CC=c.973+684_973+685delTT;VC=Intron;Gene=CD46/NM_172351.2/0;CC=c.1082+108_1082+109delTT;VC=Intron;Gene=CD46/NM_172352.2/0;CC=c.1037+108_1037+109delTT;VC=Intron;Gene=CD46/NM_172353.2/0;CC=c.1037+108_1037+109delTT;VC=Intron;Gene=CD46/NM_172359.2/0;CC=c.1127+108_1127+109delTT;VC=Intron;Gene=CD46/NM_172361.2/0;CC=c.995+108_995+109delTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:CTT,C:16:2:0:15:4,12:132,474:0.00,38.89:0.00,1.32:0.00,37.57:0.00,1.00:0.00,0.89:0.00,1.00:60,60:8.8,84.7:0,3:0,0:142,80:7,71:5,24:-,NM_002389.4(CD46) c.1127+96_1127+97delTT:-,NOT_FOUND:-,NOT_FOUND 1 207959135 rs55828915 T A 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1526,A/0.8474;NP=2529;Gene=CD46/NM_002389.4/1;CC=c.1127+108T>A;VC=Intron;Gene=CD46/NM_153826.3/0;CC=c.1082+108T>A;VC=Intron;Gene=CD46/NM_172350.2/0;CC=c.973+684T>A;VC=Intron;Gene=CD46/NM_172351.2/0;CC=c.1082+108T>A;VC=Intron;Gene=CD46/NM_172352.2/0;CC=c.1037+108T>A;VC=Intron;Gene=CD46/NM_172353.2/0;CC=c.1037+108T>A;VC=Intron;Gene=CD46/NM_172359.2/0;CC=c.1127+108T>A;VC=Intron;Gene=CD46/NM_172361.2/0;CC=c.995+108T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,T:17:0:0:0:14,3:450,87:48.24,0.00:0.00,0.00:48.24,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:72.4,28.7:0,1:0,0:91,74:60,60:23,26:NM_002389.4(CD46) c.1127+108T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 207959136 rs56114948 T A 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.0645,A/0.9355;NP=2641;NP=27;NP=3;NP=3;Gene=CD46/NM_002389.4/1;CC=c.1127+109T>A;VC=Intron;Gene=CD46/NM_153826.3/0;CC=c.1082+109T>A;VC=Intron;Gene=CD46/NM_172350.2/0;CC=c.973+685T>A;VC=Intron;Gene=CD46/NM_172351.2/0;CC=c.1082+109T>A;VC=Intron;Gene=CD46/NM_172352.2/0;CC=c.1037+109T>A;VC=Intron;Gene=CD46/NM_172353.2/0;CC=c.1037+109T>A;VC=Intron;Gene=CD46/NM_172359.2/0;CC=c.1127+109T>A;VC=Intron;Gene=CD46/NM_172361.2/0;CC=c.995+109T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A,I:17:0:1:0:16,1:528,27:60.01,1.95:0.00,0.00:60.01,1.95:1.00,0.00:0.00,0.00:1.00,0.00:60,60:67.4,20.0:0,0:0,0:92,49:59,59:23,0:NM_002389.4(CD46) c.1127+109T>A,NM_002389.4(CD46) c.1127+109T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 207963691 . G . . NT END=207966863;NT GT ./. 1 207966941 . A . . NT END=208061082;NT GT ./. 1 207991627 rs575447480 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T:5:5:0:0:2,3:71,73:0.00,7.22:0.00,7.22:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:56,70:74.5,55.3:0,0:0,0:34,59:90,85:3,11:-,NR_026817.1(LOC148696) n.-97C>T:-,NOT_FOUND:-,NOT_FOUND 1 208060806 rs2745950 G A 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6647,A/0.3353;Gene=CD34/NM_001025109.1/1;CC=c.*277C>T;VC=3UTR;Gene=CD34/NM_001773.2/0;CC=c.*643C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:10:9:0:0:5,5:148,100:14.27,0.00:12.71,0.00:1.56,0.00:0.95,0.00:1.00,0.00:0.67,0.00:60,60:94.4,15.2:0,0:0,0:57,30:94,121:33,26:NM_001025109.1(CD34) c.*277C>T,-:0.36,-:NOT_FOUND,- 1 208060807 rs2745951 A G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.6707,G/0.3293,T/.;Gene=CD34/NM_001025109.1/1;CC=c.*276T>C;VC=3UTR;Gene=CD34/NM_001773.2/0;CC=c.*642T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,G:10:9:0:0:5,5:116,146:0.00,13.99:0.00,10.51:0.00,3.48:0.00,0.95:0.00,1.00:0.00,0.67:60,60:15.2,94.4:0,0:0,0:31,58:120,93:26,33:-,NM_001025109.1(CD34) c.*276T>C:-,0.36:-,NOT_FOUND 1 208061464 . C . . NT END=208062026;NT GT ./. 1 208061530 rs2235766 A G 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.8219,G/0.1781;PC=0.001;Gene=CD34/NM_001025109.1/1;CC=c.973-262T>C;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.973-67T>C;VC=Intron;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:30:0:0:29,29:923,944:0.00,90.80:0.00,28.08:0.00,62.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,39.2:0,0:0,0:113,83:34,51:27,40:-,NM_001025109.1(CD34) c.973-262T>C:-,0.19:-,0.113885 1 208062192 . C . . NT END=208062505;NT GT ./. 1 208062260 rs2745952 T C 195 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.235,C/0.765;PC=0.001;Gene=CD34/NM_001025109.1/1;CC=c.808-69A>G;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.808-69A>G;VC=Intron;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:A,C:56:18:0:0:1,55:13,1695:0.30,195.17:0.00,48.70:0.30,146.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:123.0,40.7:0,0:0,0:148,113:3,32:0,22:NM_001025109.1(CD34) c.808-69A>G,NM_001025109.1(CD34) c.808-69A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 208062559 . C . . NT END=208062809;NT GT ./. 1 208062967 . C . . NT END=208063059;NT GT ./. 1 208063100 rs5780411 G GA 111 idl,rn VT=INS;SST=Single;DP=95;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;NP=550;Gene=CD34/NM_001025109.1/1;CC=c.598-135dupT;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.598-135dupT;VC=Intron;DM=CD34/CD34_antigen;DM=CD34/CD34_antigen;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA,D:84:75:48:4:4,39,37,4:110,1274,1488,114:6.90,0.00,111.35,7.10:-0.53,0.00,80.95,5.08:7.43,0.00,30.40,2.02:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:55.5,12.4,32.1,31.0:3,0,11,0:0,0,0,0:41,66,58,91:109,84,78,58:6,35,35,11:-,NM_001025109.1(CD34) c.598-135_598-134insT:-,NOT_FOUND:-,NOT_FOUND 1 208063466 rs1009896 A T 336 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.261,G/.,T/0.739;Gene=CD34/NM_001025109.1/1;CC=c.598-500T>A;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.598-500T>A;VC=Intron;DM=CD34/CD34_antigen;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:95:56:0:0:1,1,93:19,12,2931:0.55,0.17,336.34:0.00,0.17,148.74:0.55,0.00,187.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:123.0,65.0,40.9:0,0,0:0,0,0:146,132,76:5,19,68:0,0,38:NM_001025109.1(CD34) c.598-500T>A,NM_001025109.1(CD34) c.598-500T>A:0.73,0.73:NOT_FOUND,NOT_FOUND 1 208063630 . A . . NT END=208070837;NT GT ./. 1 208063808 rs2745954 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7871,A/0.2129;PC=0.179;Gene=CD34/NM_001025109.1/1;CC=c.598-842C>T;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.598-842C>T;VC=Intron;DM=CD34/CD34_antigen;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,G:7:0:0:0:4,3:125,103:12.33,0.00:0.00,0.00:12.33,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:60.5,0.0:0,0:0,0:97,87:53,62:33,0:NM_001025109.1(CD34) c.598-842C>T,-:0.24,-:NOT_FOUND,- 1 208070646 rs12566127 C T 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8464,T/0.1536;PC=0.651;Gene=CD34/NM_001025109.1/1;CC=c.597+192G>A;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.597+192G>A;VC=Intron;DM=CD34/CD34_antigen;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T:10:10:0:1:2,8:70,236:0.00,25.23:0.00,25.23:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,53.2:0,0:0,0:87,40:61,110:45,24:-,NM_001025109.1(CD34) c.597+192G>A:-,0.14:-,NOT_FOUND 1 208070919 . C . . NT END=208072317;NT GT ./. 1 208072057 rs73072979 G A 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8241,A/0.1759;PC=0.088;Gene=CD34/NM_001025109.1/1;CC=c.516+261C>T;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.516+261C>T;VC=Intron;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:6:6:0:0:5,1:135,36:14.69,0.00:14.69,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:44.4,0.0:0,0:0,0:12,110:125,41:5,0:NM_001025109.1(CD34) c.516+261C>T,-:0.16,-:NOT_FOUND,- 1 208072572 . C . . NT END=208073165;NT GT ./. 1 208072626 rs12029239 A C 111 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.7053,C/0.2947;PC=0.017;Gene=CD34/NM_001025109.1/1;CC=c.263-55T>G;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.263-55T>G;VC=Intron;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:57:23:0:0:23,34:658,1113:0.00,110.86:0.00,35.80:0.00,75.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.7,43.0:0,0:0,0:107,91:42,58:24,32:-,NM_001025109.1(CD34) c.263-55T>G:-,0.26:-,NOT_FOUND 1 208072738 rs2724369 A C 86 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1016,C/0.8984;Gene=CD34/NM_001025109.1/1;CC=c.263-167T>G;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.263-167T>G;VC=Intron;DM=CD34/CD34_antigen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:0:0:0:23:750:85.94:0.00:85.94:1.00:0.00:1.00:60:49.7:0:0:103:48:28:NM_001025109.1(CD34) c.263-167T>G,NM_001025109.1(CD34) c.263-167T>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 208073349 . C . . NT END=208084346;NT GT ./. 1 208084172 rs59017632 G A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9489,A/0.05112;Gene=CD34/NM_001025109.1/1;CC=c.79+175C>T;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.79+175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:12:12:0:0:7,5:204,128:20.24,0.00:20.24,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:51.4,8.2:0,0:0,0:83,30:67,121:26,4:NM_001025109.1(CD34) c.79+175C>T,-:0.05,-:NOT_FOUND,- 1 208084199 rs60466811 C CG 30 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6701,CG/0.3299;DB;DBA=NA;PAF=C/0.6701,CG/0.3299;NP=13;Gene=CD34/NM_001025109.1/1;CC=c.79+147dupC;VC=Intron;Gene=CD34/NM_001773.2/0;CC=c.79+147dupC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CG:17:17:10:0:7,10:200,303:0.00,30.07:0.00,30.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.6,23.8:1,0:0,0:43,38:108,113:14,33:-,NM_001025109.1(CD34) c.79+147_79+148insC:-,0.35:-,NOT_FOUND 1 208084426 . C . . NT END=208200587;NT GT ./. 1 208200684 . C . . NT END=208201353;NT GT ./. 1 208200737 rs659192 C G 199 nt VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.8201,G/0.1799;Gene=PLXNA2/NM_025179.3/1;CC=c.5590-54G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:23:0:0:53:1741:199.33:52.76:146.57:1.00:1.00:1.00:60:39.2:0:0:112:33:21:NM_025179.3(PLXNA2) c.5590-54G>C,NM_025179.3(PLXNA2) c.5590-54G>C:0.15,0.15:0.11717,0.11717 1 208201070 rs657778 T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04932,C/0.9507;PC=0.002;Gene=PLXNA2/NM_025179.3/1;CC=c.5589+284A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:134:15.31:11.63:3.68:1.00:1.00:1.00:60:39.8:0:0:112:38:21:NM_025179.3(PLXNA2) c.5589+284A>G,NM_025179.3(PLXNA2) c.5589+284A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208201505 . C . . NT END=208202174;NT GT ./. 1 208202388 . C . . NT END=208202433;NT GT ./. 1 208202677 rs1193094 A C 448 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.04912,C/0.9509;PC=0.034;Gene=PLXNA2/NM_025179.3/1;CC=c.5226-290T>G;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:123:86:0:0:122,1:3907,9:448.08,0.06:263.01,0.00:185.07,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,80.0:0,0:0,0:84,9:67,141:35,0:NM_025179.3(PLXNA2) c.5226-290T>G,NM_025179.3(PLXNA2) c.5226-290T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208202828 rs1201528 A G 576 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=A/0.04932,G/0.9507;PC=0.021;Gene=PLXNA2/NM_025179.3/1;CC=c.5226-441T>C;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:163:118:0:0:163:4986:575.75:297.70:278.06:1.00:1.00:1.00:60:69.7:0:0:63:83:25:NM_025179.3(PLXNA2) c.5226-441T>C,NM_025179.3(PLXNA2) c.5226-441T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208202841 rs1193093 G T 632 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=G/0.04912,T/0.9509;Gene=PLXNA2/NM_025179.3/1;CC=c.5226-454C>A;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:170:118:0:0:1,1,168:12,6,5543:0.10,0.00,632.39:0.10,0.00,318.25:0.00,0.00,314.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:137.0,37.0,69.8:0,0,0:0,0,0:11,124,79:116,27,69:0,0,27:NM_025179.3(PLXNA2) c.5226-454C>A,NM_025179.3(PLXNA2) c.5226-454C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208202962 rs1193092 T A 496 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=139;DB;DBA=NA;PAF=T/0.04932,A/0.9507;Gene=PLXNA2/NM_025179.3/1;CC=c.5226-575A>T;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:139:79:0:0:139:4299:495.94:218.44:277.50:1.00:1.00:1.00:60:49.8:0:0:76:73:38:NM_025179.3(PLXNA2) c.5226-575A>T,NM_025179.3(PLXNA2) c.5226-575A>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208203281 rs841862 A G 544 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.04453,G/0.9555;Gene=PLXNA2/NM_025179.3/1;CC=c.5226-894T>C;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:147:99:0:0:1,145,1:13,4758,13:0.14,543.87,0.14:0.14,254.91,0.14:0.00,288.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:69.0,39.6,13.0:0,0,0:0,0,0:121,58,116:30,90,34:0,31,0:NM_025179.3(PLXNA2) c.5226-894T>C,NM_025179.3(PLXNA2) c.5226-894T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208204066 rs685379 A G 557 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=151;DB;DBA=NA;PAF=A/0.04613,G/0.9539;PC=1.000;Gene=PLXNA2/NM_025179.3/1;CC=c.5225+869T>C;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:151:113:0:0:149,2:4868,32:556.76,1.04:328.46,1.04:228.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,64.5:0,0:0,0:72,71:76,79:32,48:NM_025179.3(PLXNA2) c.5225+869T>C,NM_025179.3(PLXNA2) c.5225+869T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208204684 . C . . NT END=208204934;NT GT ./. 1 208204794 rs76190764 CTGTT C 114 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=CTGTT/0.4962,C/0.5038;NP=713;PC=0.296;Gene=PLXNA2/NM_025179.3/1;CC=c.5225+137_5225+140delAACA;VC=Intron;DM=PLXNA2/Plexin_cytopl;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:CTGTT,C:39:22:0:33:6,33:181,1055:0.00,114.01:0.00,59.78:0.00,54.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,9.7:0,0:0,0:143,84:5,67:2,21:-,NM_025179.3(PLXNA2) c.5225+137_5225+140delAACA:-,0.44:-,NOT_FOUND 1 208205105 . C . . NT END=208205324;NT GT ./. 1 208205520 . C . . NT END=208206663;NT GT ./. 1 208206855 . C . . NT END=208207837;NT GT ./. 1 208207045 rs1193090 T C 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.04633,C/0.9537;Gene=PLXNA2/NM_025179.3/1;CC=c.4865-191A>G;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:229:26.68:0.00:26.68:1.00:0.00:1.00:60:36.1:0:0:109:40:18:NM_025179.3(PLXNA2) c.4865-191A>G,NM_025179.3(PLXNA2) c.4865-191A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208207938 . C . . NT END=208211715;NT GT ./. 1 208211820 . C . . NT END=208212169;NT GT ./. 1 208211887 rs905100 T C 180 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.1234,C/0.8766;PC=0.001;Gene=PLXNA2/NM_025179.3/1;CC=c.4661-68A>G;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:47:18:0:0:47:1579:180.31:49.95:130.36:1.00:1.00:1.00:60:42.7:0:0:109:41:26:NM_025179.3(PLXNA2) c.4661-68A>G,NM_025179.3(PLXNA2) c.4661-68A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 208212330 . C . . NT END=208212965;NT GT ./. 1 208212397 rs2767566 A G 123 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5162,G/0.4838;PC=0.002;Gene=PLXNA2/NM_025179.3/1;CC=c.4501-68T>C;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:G,T:34:8:0:0:33,1:1076,10:122.85,0.24:22.88,0.00:99.96,0.24:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,65.0:0,0:0,0:95,89:56,61:23,0:NM_025179.3(PLXNA2) c.4501-68T>C,NM_025179.3(PLXNA2) c.4501-68T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 1 208212823 rs1359769 C T 111 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.8047,T/0.1953;Gene=PLXNA2/NM_025179.3/1;CC=c.4500+143G>A;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:31:0:0:31:963:111.01:109.08:1.94:1.00:1.00:1.00:60:47.9:0:0:66:84:37:NM_025179.3(PLXNA2) c.4500+143G>A,NM_025179.3(PLXNA2) c.4500+143G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 1 208213113 . C . . NT END=208213336;NT GT ./. 1 208213125 rs1751580 A G 339 nt VT=SNV;PN=G;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.04573,G/0.9543;PC=0.001;Gene=PLXNA2/NM_025179.3/1;CC=c.4354-13T>C;VC=Intron;DM=PLXNA2/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:91:41:0:0:1,90:9,2965:0.09,338.88:0.00,100.84:0.09,238.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:115.0,38.9:0,0:0,0:90,93:60,51:0,38:NM_025179.3(PLXNA2) c.4354-13T>C,NM_025179.3(PLXNA2) c.4354-13T>C:0.96,0.96:0.954944,0.954944 1 208213404 . C . . NT END=208215442;NT GT ./. 1 208215712 . C . . NT END=208216405;NT GT ./. 1 208216549 . C . . NT END=208217852;NT GT ./. 1 208218088 . C . . NT END=208218411;NT GT ./. 1 208218556 . C . . NT END=208219222;NT GT ./. 1 208219463 . C . . NT END=208224353;NT GT ./. 1 208220142 rs371225272 AGTGTGTGT A 12 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AGTGTGTGT/0.641,A/0.359;NP=4;Gene=PLXNA2/NM_025179.3/1;CC=c.3256-688_3256-681delACACACAC;VC=Intron;DM=PLXNA2/TIG;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AGTGTGTGT,A:5:6:0:7:1,4:34,191:0.00,11.69:0.00,9.22:0.00,2.47:0.00,0.87:0.00,0.73:0.00,0.96:60,60:0.0,50.2:0,3:0,0:124,51:27,74:0,30:-,NM_025179.3(PLXNA2) c.3256-688_3256-681delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 208224448 . C . . NT END=208224600;NT GT ./. 1 208224769 . C . . NT END=208225671;NT GT ./. 1 208224957 rs681429 C T 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.04113,T/0.9589;Gene=PLXNA2/NM_025179.3/1;CC=c.2994-189G>A;VC=Intron;DM=PLXNA2/TIG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:345:40.17:0.00:40.17:1.00:0.00:1.00:60:41.4:0:0:103:47:28:NM_025179.3(PLXNA2) c.2994-189G>A,NM_025179.3(PLXNA2) c.2994-189G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 208225809 . C . . NT END=208227765;NT GT ./. 1 208225909 rs841865 G A 158 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.8189,A/0.1811;Gene=PLXNA2/NM_025179.3/1;CC=c.2857-101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A:44:6:0:0:44:1367:157.51:13.59:143.92:1.00:1.00:1.00:60:41.9:0:0:99:51:30:NM_025179.3(PLXNA2) c.2857-101C>T,NM_025179.3(PLXNA2) c.2857-101C>T:0.16,0.16:NOT_FOUND,NOT_FOUND 1 208227884 . C . . NT END=208234030;NT GT ./. 1 208234183 . C . . NT END=208252604;NT GT ./. 1 208252796 . C . . NT END=208255756;NT GT ./. 1 208255854 . C . . NT END=208257724;NT GT ./. 1 208255877 rs6540453 T C 198 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.4361,C/0.5639;Gene=PLXNA2/NM_025179.3/1;CC=c.2299-24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:C:54:32:0:0:54:1721:197.77:76.30:121.47:1.00:1.00:1.00:60:33.9:0:0:107:37:24:NM_025179.3(PLXNA2) c.2299-24A>G,NM_025179.3(PLXNA2) c.2299-24A>G:0.62,0.62:0.62648,0.62648 1 208257429 rs2478808 T A 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.03954,A/0.9605;Gene=PLXNA2/NM_025179.3/1;CC=c.2298+296A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:178:20.66:20.66:0.00:1.00:1.00:0.00:60:32.2:0:0:17:133:10:NM_025179.3(PLXNA2) c.2298+296A>T,NM_025179.3(PLXNA2) c.2298+296A>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 208257926 . C . . NT END=208266130;NT GT ./. 1 208266246 . C . . NT END=208269373;NT GT ./. 1 208266469 rs2478805 G T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.04712,T/0.9529;Gene=PLXNA2/NM_025179.3/1;CC=c.1983-224C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:163:18.68:0.00:18.68:1.00:0.00:1.00:60:32.6:0:0:111:40:4:NM_025179.3(PLXNA2) c.1983-224C>A,NM_025179.3(PLXNA2) c.1983-224C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 208269471 . C . . NT END=208270074;NT GT ./. 1 208270229 . C . . NT END=208272190;NT GT ./. 1 208270481 rs2498018 G C 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8029,C/0.1971;Gene=PLXNA2/NM_025179.3/1;CC=c.1732-253C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:252:29.01:0.00:29.01:1.00:0.00:1.00:60:33.0:0:0:127:24:16:NM_025179.3(PLXNA2) c.1732-253C>G,NM_025179.3(PLXNA2) c.1732-253C>G:0.2,0.2:NOT_FOUND,NOT_FOUND 1 208272315 . C . . NT END=208276491;NT GT ./. 1 208276399 rs397764739 C CCTCT 53 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.05631,CCT/.,CCTCT/0.9437;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.05631,CCTCT/0.9437;NP=1932;Gene=PLXNA2/NM_025179.3/1;CC=c.1607+89_1607+92dupAGAG;VC=Intron;DM=PLXNA2/PSI;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C,G,T,CCTCT:18:19:16:0:1,1,1,15:14,10,8,519:0.00,0.35,0.23,53.46:0.00,0.35,0.23,51.62:0.00,0.00,0.00,1.84:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.86:60,60,12,60:32.0,81.0,187.0,1.5:0,1,0,1:0,0,0,0:145,26,55,37:6,125,60,114:0,0,0,20:NM_025179.3(PLXNA2) c.1607+92_1607+93insAGAG,NM_025179.3(PLXNA2) c.1607+92_1607+93insAGAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 208276593 . C . . NT END=208315673;NT GT ./. 1 208315809 . C . . NT END=208383624;NT GT ./. 1 208356951 rs5780439 GA G 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=168;PC=0.002;Gene=PLXNA2/NM_025179.3/1;CC=c.1371+26673delT;VC=Intron;DM=PLXNA2/Sema;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GA,G:4:4:0:3:1,3:34,96:0.00,10.05:0.00,10.05:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:33.0,36.3:1,0:0,0:76,57:75,91:0,20:-,NM_025179.3(PLXNA2) c.1371+26673delT:-,NOT_FOUND:-,NOT_FOUND 1 208357005 rs1664250 T C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.06709,C/0.9329;Gene=PLXNA2/NM_025179.3/1;CC=c.1371+26620A>G;VC=Intron;DM=PLXNA2/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:120:13.90:13.90:0.00:1.00:1.00:0.00:60:35.5:0:0:120:29:17:NM_025179.3(PLXNA2) c.1371+26620A>G,NM_025179.3(PLXNA2) c.1371+26620A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 208383808 . C . . NT END=208390079;NT GT ./. 1 208390086 rs1664227 G C 239 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=G/0.6328,C/0.3672,T/.;PC=1.000;Gene=PLXNA2/NM_025179.3/1;CC=c.1182C>G;ProtCh=p.T394=;VC=Silent;DM=PLXNA2/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:150:119:0:0:76,74:2483,2436:239.38,0.00:143.82,0.00:95.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,6.1:0,0:0,0:62,63:84,81:33,29:NM_025179.3(PLXNA2) c.1182C>G (p.(=)),-:0.36,-:0.335307,- 1 208391254 rs2782948 C T 275 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=C/0.6354,T/0.3646;PC=0.994;Gene=PLXNA2/NM_025179.3/1;CC=c.14G>A;ProtCh=p.R5Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:177:108:0:0:93,84:2797,2879:0.00,274.93:0.00,118.28:0.00,156.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,36.2:0,0:0,0:86,74:64,66:35,35:-,NM_025179.3(PLXNA2) c.14G>A (p.Arg5Gln):-,0.36:-,0.33093 1 208391313 . C . . NT END=209602642;NT GT ./. 1 208582260 rs34582209 T TAC 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4095,TAC/0.5905;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4095,TAC/0.5905,TACAC/.;NP=1;NP=200;NP=3;PC=0.001;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TAC,D:6:6:3:1:2,3,1:68,97,28:0.00,9.63,2.34:0.00,8.14,2.42:0.00,1.49,-0.08:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.89,0.00:60,60,60:0.0,11.3,53.0:0,0,0:0,0,0:131,28,51:20,122,100:1,22,0:-,chr1 g.208582260_208582261insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 208870615 rs376166491 CT C 6 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=9;PC=0.085;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CT,I,C:5:5:1:3:2,1,2:68,29,100:0.00,2.44,6.35:0.00,-0.16,6.35:0.00,2.60,0.00:0.00,0.00,0.42:0.00,0.00,0.86:0.00,0.00,0.56:60,60,60:6.5,15.0,40.0:0,0,1:0,0,0:9,38,50:141,113,101:0,0,6:-,chr1 g.208870616delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 208871055 rs1166871 G T 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4533,A/.,T/0.5467;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:7:0:0:22:691:79.56:17.43:62.13:1.00:1.00:1.00:60:38.6:0:0:115:33:27:chr1 g.208871054G>T (intergenic),chr1 g.208871054G>T (intergenic):0.57,0.57:NOT_FOUND,NOT_FOUND 1 208873668 rs34527837 T TCA 11 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;NP=36;NP=6;PC=0.010;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:T,TCA,D:8:5:4:2:2,4,2:51,111,42:0.00,11.17,3.70:0.00,7.67,0.78:0.00,3.49,2.93:0.00,0.87,0.00:0.00,0.96,0.00:0.00,0.73,0.00:60,60,60:27.0,1.8,35.5:1,0,0:0,0,0:38,58,13:108,83,137:12,19,8:-,chr1 g.208873668_208873669insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 208873784 rs10779492 G A 16 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1108,A/0.8892;PC=0.045 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:1:0:0:5:140:16.35:1.79:14.56:1.00:1.00:1.00:60:54.8:0:0:107:44:29:chr1 g.208873783G>A (intergenic),chr1 g.208873783G>A (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 209346731 rs10863758 G A 299 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.4311,A/0.5689;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:29:0:0:79:2609:298.53:63.34:235.18:1.00:1.00:1.00:60:40.3:0:0:97:43:30:chr1 g.209346730G>A (intergenic),chr1 g.209346730G>A (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 1 209406009 rs2788155 A G 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.01877,G/0.9812;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:7:0:0:13:445:50.70:27.54:23.16:1.00:1.00:1.00:60:37.5:0:0:52:98:46:chr1 g.209406008A>G (intergenic),chr1 g.209406008A>G (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 209406173 rs2800918 A G 100 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.01877,G/0.9812;PC=0.970 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:16:0:0:26:872:99.59:45.87:53.73:1.00:1.00:1.00:60:39.7:0:0:100:49:19:chr1 g.209406172A>G (intergenic),chr1 g.209406172A>G (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 209602381 rs10779505 G A,C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3107,A/0.6893;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:4:4:0:0:3,1:103,11:11.36,0.98:9.38,0.98:1.98,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:45.3,83.0:0,0:0,0:13,106:138,44:3,0:NM_001104548.1(MIR205HG) c.-170G>A,NM_001104548.1(MIR205HG) c.-170G>C:0.69,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 209602754 . G . . NT END=209603769;NT GT ./. 1 209602886 rs5780516 C CA 28 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4776,CA/0.5224;DB;DBA=NA;PAF=C/0.4776,CA/0.5224;NP=252;Gene=MIR205HG/NM_001104548.1/1;CC=c.111+145dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,CA:12:0:11:0:3,9:89,329:0.00,28.12:0.00,0.00:0.00,28.12:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.3,8.1:0,2:0,0:146,88:5,63:2,18:-,NM_001104548.1(MIR205HG) c.111+133_111+134insA:-,NOT_FOUND:-,NOT_FOUND 1 209603822 . G . . NT END=209605548;NT GT ./. 1 209603996 rs2294938 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4485,G/0.5515;Gene=MIR205HG/NM_001104548.1/1;CC=c.163+175A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:205:23.79:0.00:23.79:1.00:0.00:1.00:60:48.1:0:0:112:39:28:NM_001104548.1(MIR205HG) c.163+175A>G,NM_001104548.1(MIR205HG) c.163+175A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 209605636 rs74820836 TAGCAGCAGCAGC T 176 lc VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=495;PC=0.002;Gene=MIR205HG/NM_001104548.1/1;CC=c.280_291delGCAGCAGCAGCA;ProtCh=p.A94_A97del;VC=InFrameDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAGCAGCAGCAGC,T:83:53:0:57:27,56:831,1754:0.00,175.93:0.00,90.46:0.00,85.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.1,3.4:0,1:0,0:127,49:18,102:10,19:-,NM_001104548.1(MIR205HG) c.253GCA[9] (p.Ala85[9]):-,NOT_FOUND:-,NOT_FOUND 1 209605695 . G . . NT END=209768311;NT GT ./. 1 209768084 rs17388240 T C 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9912,C/0.008786;NP=6;Gene=CAMK1G/NM_020439.2/1;CC=c.-29-216T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,T:8:8:0:0:5,3:175,80:17.60,0.00:17.60,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:35.0,0.0:0,0:0,0:35,53:116,97:27,8:NM_020439.2(CAMK1G) c.-29-216T>C,-:0.01,-:NOT_FOUND,- 1 209768421 . G . . NT END=209773310;NT GT ./. 1 209773457 . G . . NT END=209776541;NT GT ./. 1 209776634 . G . . NT END=209778863;NT GT ./. 1 209779020 . G . . NT END=209779647;NT GT ./. 1 209779388 rs2076224 A T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6384,T/0.3616;PC=0.070;Gene=CAMK1G/NM_020439.2/1;CC=c.436-277A>T;VC=Intron;DM=CAMK1G/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,T:6:4:0:0:1,5:35,146:0.00,15.72:0.00,11.02:0.00,4.71:0.00,0.99:0.00,1.00:0.00,0.98:60,60:0.0,47.4:0,0:0,0:112,78:37,73:0,33:-,NM_020439.2(CAMK1G) c.436-277A>T:-,0.34:-,NOT_FOUND 1 209779789 . G . . NT END=209781185;NT GT ./. 1 209781279 . G . . NT END=209782307;NT GT ./. 1 209782343 rs11119314 A G 185 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=A/0.4545,G/0.5455;Gene=CAMK1G/NM_020439.2/1;CC=c.654A>G;ProtCh=p.P218=;VC=Silent;DM=CAMK1G/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:124:77:0:0:64,60:2070,1933:0.00,184.63:0.00,85.59:0.00,99.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,40.9:0,0:0,0:88,80:57,70:32,25:-,NM_020439.2(CAMK1G) c.654A>G (p.(=)):-,0.52:-,0.480932 1 209782438 . G . . NT END=209783178;NT GT ./. 1 209782545 rs9430006 A G 72 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.8608,G/0.1392;PC=0.227;Gene=CAMK1G/NM_020439.2/1;CC=c.748+108A>G;VC=Intron;DM=CAMK1G/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:4:0:0:21,23:647,741:0.00,71.86:0.00,4.86:0.00,67.00:0.00,1.00:0.00,0.95:0.00,1.00:60,60:4.5,44.4:0,0:0,0:82,101:69,50:23,30:-,NM_020439.2(CAMK1G) c.748+108A>G:-,0.15:-,NOT_FOUND 1 209782684 rs76001087 G C 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.781,GC/0.0007987;DB;DBA=NA;PAF=G/0.781,C/0.2183;Gene=CAMK1G/NM_020439.2/1;CC=c.748+247G>C;VC=Intron;DM=CAMK1G/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:248:28.61:0.00:28.61:1.00:0.00:1.00:60:40.1:0:0:97:52:29:NM_020439.2(CAMK1G) c.748+247G>C,NM_020439.2(CAMK1G) c.748+247G>C:0.2,0.2:NOT_FOUND,NOT_FOUND 1 209783275 . G . . NT END=209784792;NT GT ./. 1 209784663 rs10746421 A C 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2224,C/0.7776;Gene=CAMK1G/NM_020439.2/1;CC=c.828-147A>C;VC=Intron;DM=CAMK1G/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,C:16:16:0:0:6,10:148,350:0.00,35.20:0.00,35.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.3,39.9:0,0:0,0:49,51:102,99:26,33:-,NM_020439.2(CAMK1G) c.828-147A>C:-,0.76:-,NOT_FOUND 1 209784898 . G . . NT END=209785119;NT GT ./. 1 209785562 . G . . NT END=209786112;NT GT ./. 1 209785957 rs2272879 T G 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2242,G/0.7758;Gene=CAMK1G/NM_020439.2/1;CC=c.1341-173T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:G,T:9:8:0:0:5,4:167,88:16.43,0.00:16.76,0.00:-0.34,0.00:0.96,0.00:1.00,0.00:0.70,0.00:60,60:34.4,16.8:0,0:0,0:54,63:96,87:21,27:NM_020439.2(CAMK1G) c.1341-173T>G,-:0.76,-:NOT_FOUND,- 1 209786078 rs2272880 G A 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.2416,A/0.7584;Gene=CAMK1G/NM_020439.2/1;CC=c.1341-52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:28:0:0:14,18:445,565:41.65,0.00:33.57,0.00:8.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,5.8:0,0:0,0:37,32:114,113:22,17:NM_020439.2(CAMK1G) c.1341-52G>A,-:0.74,-:0.693107,- 1 209786221 . T . . NT END=209788615;NT GT ./. 1 209788514 rs2566 G A 81 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7049,A/0.2951;PC=0.002;Gene=LAMB3/NM_001017402.1/0;CC=c.*102C>T;VC=3UTR;Gene=LAMB3/NM_001127641.1/0;CC=c.*102C>T;VC=3UTR;Gene=LAMB3/NM_000228.2/1;CC=c.*102C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:59:54:0:0:29,29,1:851,953,8:81.41,0.00,-0.12:65.81,0.00,-0.09:15.60,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.8,4.2,182.0:0,0,0:0,0,0:26,35,79:123,116,71:21,25,0:NM_000228.2(LAMB3) c.*102C>T,-:0.3,-:NOT_FOUND,- 1 209788753 . C . . NT END=209789815;NT GT ./. 1 209789970 . C . . NT END=209790754;NT GT ./. 1 209790932 . C . . NT END=209791251;NT GT ./. 1 209791394 . C . . NT END=209791796;NT GT ./. 1 209791562 rs2076220 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6895,T/0.3105;Gene=LAMB3/NM_001017402.1/0;CC=c.2910-169G>A;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.2910-169G>A;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.2910-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:C,T:21:6:0:0:15,6:446,194:0.00,16.81:0.00,8.26:0.00,8.55:0.00,0.93:0.00,0.85:0.00,0.98:60,60:32.3,81.0:0,0:0,0:101,78:49,72:25,22:-,NM_000228.2(LAMB3) c.2910-169G>A:-,0.32:-,NOT_FOUND 1 209791615 rs2076221 G A 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6242,A/0.3758;Gene=LAMB3/NM_001017402.1/0;CC=c.2909+182C>T;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.2909+182C>T;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.2909+182C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:11:0:0:7,9:230,247:21.59,0.00:18.86,0.00:2.73,0.00:0.98,0.00:1.00,0.00:0.94,0.00:60,60:78.7,37.6:0,0:0,0:92,102:59,49:42,23:NM_000228.2(LAMB3) c.2909+182C>T,-:0.37,-:NOT_FOUND,- 1 209792005 . C . . NT END=209795880;NT GT ./. 1 209792015 rs5780528 A AC 311 nt VT=INS;SST=Single;DP=90;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.01637,AC/0.9836;NP=3425;PC=0.947;Gene=LAMB3/NM_001017402.1/0;CC=c.2702-12dupG;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.2702-12dupG;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.2702-12dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:A,C,AC:90:26:87:0:2,1,87:60,9,2735:0.00,0.08,310.73:0.00,0.00,61.95:0.00,0.08,248.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.0,203.0,4.4:0,1,0:0,0,0:146,87,104:2,64,42:1,0,21:NM_000228.2(LAMB3) c.2702-12_2702-11insG,NM_000228.2(LAMB3) c.2702-12_2702-11insG:0.97,0.97:0.951837,0.951837 1 209796026 . C . . NT END=209796326;NT GT ./. 1 209796267 rs3737913 G A 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.7033,A/0.2967;Gene=LAMB3/NM_001017402.1/0;CC=c.2556+60C>T;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.2556+60C>T;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.2556+60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:65:0:0:35,38:1053,1065:99.99,0.00:88.82,0.00:11.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,14.1:0,0:0,0:53,46:98,105:24,36:NM_000228.2(LAMB3) c.2556+60C>T,-:0.31,-:NOT_FOUND,- 1 209796525 . C . . NT END=209796849;NT GT ./. 1 209797071 . C . . NT END=209797184;NT GT ./. 1 209797346 . C . . NT END=209798992;NT GT ./. 1 209799253 rs2179402 A G 237 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=A/0.235,G/0.765;PC=0.002;Gene=LAMB3/NM_001017402.1/0;CC=c.1716T>C;ProtCh=p.C572=;VC=Silent;Gene=LAMB3/NM_001127641.1/0;CC=c.1716T>C;ProtCh=p.C572=;VC=Silent;Gene=LAMB3/NM_000228.2/1;CC=c.1716T>C;ProtCh=p.C572=;VC=Silent;DM=LAMB3/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:149:88:0:0:76,73:2338,2472:0.00,237.14:0.00,100.65:0.00,136.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,40.1:0,0:0,0:76,71:66,78:41,31:-,NM_000228.2(LAMB3) c.1716T>C (p.(=)):-,0.77:-,0.746001 1 209799372 . C . . NT END=209800211;NT GT ./. 1 209800324 . C . . NT END=209800727;NT GT ./. 1 209800925 . C . . NT END=209801379;NT GT ./. 1 209801110 rs61822212 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9089,T/0.09105;Gene=LAMB3/NM_001017402.1/0;CC=c.1289-186G>A;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.1289-186G>A;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.1289-186G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:16:4:0:0:8,1,7:236,23,229:0.00,1.36,21.73:0.00,-0.06,5.54:0.00,1.41,16.19:0.00,0.00,0.98:0.00,0.00,0.90:0.00,0.00,1.00:60,60,60:1.6,233.0,57.1:0,0,0:0,0,0:86,143,58:64,8,93:34,0,20:-,NM_000228.2(LAMB3) c.1289-186G>A:-,0.11:-,NOT_FOUND 1 209801536 . C . . NT END=209803081;NT GT ./. 1 209801707 rs2076353 T C 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8922,C/0.1078;Gene=LAMB3/NM_001017402.1/0;CC=c.1133-172A>G;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.1133-172A>G;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.1133-172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:1:0:0:11,12:359,388:34.23,0.00:1.83,0.00:32.40,0.00:1.00,0.00:0.65,0.00:1.00,0.00:60,60:45.7,8.4:0,0:0,0:69,118:80,32:27,19:NM_000228.2(LAMB3) c.1133-172A>G,-:0.12,-:NOT_FOUND,- 1 209803199 rs52814161 A G 179 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=A/0.9944,G/0.005591;PC=0.926;Gene=LAMB3/NM_001017402.1/0;CC=c.1015T>C;ProtCh=p.Y339H;VC=Missense;Gene=LAMB3/NM_001127641.1/0;CC=c.1015T>C;ProtCh=p.Y339H;VC=Missense;Gene=LAMB3/NM_000228.2/1;CC=c.1015T>C;ProtCh=p.Y339H;VC=Missense;DM=LAMB3/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:115:82:0:0:59,56:1774,1864:0.00,178.60:0.00,86.02:0.00,92.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,39.3:0,1:0,0:96,77:54,65:22,32:-,NM_000228.2(LAMB3) c.1015T>C (p.Tyr339His):-,0.0046:-,0.011764 1 209803271 . C . . NT END=209803959;NT GT ./. 1 209804081 . C . . NT END=209805927;NT GT ./. 1 209804095 rs4844863 G A 192 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.1767,A/0.8233;Gene=LAMB3/NM_001017402.1/0;CC=c.823-15C>T;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.823-15C>T;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.823-15C>T;VC=Intron;DM=LAMB3/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:33:0:0:52:1668:191.54:86.01:105.53:1.00:1.00:1.00:60:45.6:0:0:76:68:24:NM_000228.2(LAMB3) c.823-15C>T,NM_000228.2(LAMB3) c.823-15C>T:0.85,0.85:0.840612,0.840612 1 209806122 . C . . NT END=209806414;NT GT ./. 1 209806479 . C . . NT END=209807791;NT GT ./. 1 209807972 rs1130667 G A 222 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.7546,A/0.2454;Gene=LAMB3/NM_001017402.1/0;CC=c.384C>T;ProtCh=p.P128=;VC=Silent;Gene=LAMB3/NM_001127641.1/0;CC=c.384C>T;ProtCh=p.P128=;VC=Silent;Gene=LAMB3/NM_000228.2/1;CC=c.384C>T;ProtCh=p.P128=;VC=Silent;DM=LAMB3/Laminin_N;DM=LAMB3/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:A:58:33:0:0:58:1942:221.80:71.45:150.35:1.00:1.00:1.00:60:42.1:0:0:91:45:38:NM_000228.2(LAMB3) c.384C>T (p.(=)),NM_000228.2(LAMB3) c.384C>T (p.(=)):0.28,0.28:0.313701,0.313701 1 209807984 . C . . NT END=209811252;NT GT ./. 1 209811327 . C . . NT END=209811878;NT GT ./. 1 209811595 rs2072941 T C 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7332,C/0.2668;Gene=LAMB3/NM_001017402.1/0;CC=c.299-269A>G;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.299-269A>G;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.299-269A>G;VC=Intron;DM=LAMB3/Laminin_N;DM=LAMB3/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:174:19.78:0.00:19.78:1.00:0.00:1.00:60:42.8:0:0:89:62:26:NM_000228.2(LAMB3) c.299-269A>G,NM_000228.2(LAMB3) c.299-269A>G:0.29,0.29:NOT_FOUND,NOT_FOUND 1 209811886 rs2076356 T G 121 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.5675,G/0.4325;PC=0.044;Gene=LAMB3/NM_001017402.1/0;CC=c.291A>C;ProtCh=p.S97=;VC=Silent;Gene=LAMB3/NM_001127641.1/0;CC=c.291A>C;ProtCh=p.S97=;VC=Silent;Gene=LAMB3/NM_000228.2/1;CC=c.291A>C;ProtCh=p.S97=;VC=Silent;DM=LAMB3/Laminin_N;DM=LAMB3/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:A,G:35:35:0:0:1,34:10,1055:0.24,121.16:0.24,94.66:0.00,26.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:55.0,37.1:0,0:0,0:71,56:80,90:0,40:NM_000228.2(LAMB3) c.291A>C (p.(=)),NM_000228.2(LAMB3) c.291A>C (p.(=)):0.48,0.48:0.574581,0.574581 1 209811994 . C . . NT END=209823308;NT GT ./. 1 209812063 rs2076357 T C 83 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4211,C/0.5789;PC=0.016;Gene=LAMB3/NM_001017402.1/0;CC=c.184-70A>G;VC=Intron;Gene=LAMB3/NM_001127641.1/0;CC=c.184-70A>G;VC=Intron;Gene=LAMB3/NM_000228.2/1;CC=c.184-70A>G;VC=Intron;DM=LAMB3/Laminin_N;DM=LAMB3/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:2:0:0:25:710:82.76:5.97:76.80:1.00:1.00:1.00:60:35.6:0:0:112:38:25:NM_000228.2(LAMB3) c.184-70A>G,NM_000228.2(LAMB3) c.184-70A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 209823464 . C . . NT END=209824261;NT GT ./. 1 209824290 . C . . NT END=209849029;NT GT ./. 1 209849002 rs3817870 T C 99 nt VT=SNV;PN=A;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.3934,C/0.6066;Gene=G0S2/NM_015714.3/1;CC=c.-28T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:62:0:0:31,38:1051,1210:99.28,0.00:80.40,0.00:18.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.3,11.7:0,0:0,0:48,54:92,97:25,39:NM_015714.3(G0S2) c.-28T>C,-:0.6,-:0.660151,- 1 209849342 . G . . NT END=209878287;NT GT ./. 1 209849399 rs3830766 AG A 76 nt VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=AG/0.4022,A/0.5978;NP=2114;Gene=G0S2/NM_015714.3/1;CC=c.*59delG;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:68:23:0:29:40,28:1359,822:0.00,75.53:0.00,13.76:0.00,61.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,50.2:0,0:0,0:106,97:44,52:24,28:-,NM_015714.3(G0S2) c.*59delG:-,0.58:-,NOT_FOUND 1 209849406 rs1473683 T G 88 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.08067,G/0.9193;Gene=G0S2/NM_015714.3/1;CC=c.*65T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:64:15:0:0:29,35:930,1169:87.67,0.00:9.67,0.00:78.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,5.5:29,0:0,0:100,112:51,39:30,23:NM_015714.3(G0S2) c.*65T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 209878376 . G . . NT END=209879155;NT GT ./. 1 209879287 . G . . NT END=209880053;NT GT ./. 1 209880166 . G . . NT END=209880287;NT GT ./. 1 209880216 rs72215241 C CA 54 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.8019,CA/0.1981;NP=1256;Gene=HSD11B1/NM_001206741.1/0;CC=c.331+53dupA;VC=Intron;Gene=HSD11B1/NM_181755.2/1;CC=c.331+53dupA;VC=Intron;Gene=HSD11B1/NM_005525.3/0;CC=c.331+53dupA;VC=Intron;DM=HSD11B1/adh_short;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:51:26:19:0:32,19:973,600:0.00,54.46:0.00,31.13:0.00,23.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,29.7:0,0:0,0:95,65:55,86:41,36:-,NM_181755.2(HSD11B1) c.331+51_331+52insA:-,0.2:-,0.191054 1 209880259 rs12086634 T G 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=in-clinvar;PAF=T/0.8029,G/0.1971;Gene=HSD11B1/NM_001206741.1/0;CC=c.332-29T>G;VC=Intron;Gene=HSD11B1/NM_181755.2/1;CC=c.332-29T>G;VC=Intron;Gene=HSD11B1/NM_005525.3/0;CC=c.332-29T>G;VC=Intron;DM=HSD11B1/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:32:0:0:23,29:723,946:67.73,0.00:41.38,0.00:26.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,12.7:0,0:0,0:73,55:77,96:36,35:NM_181755.2(HSD11B1) c.332-29T>G,-:0.2,-:0.190758,- 1 209880474 . G . . NT END=209905780;NT GT ./. 1 209880508 rs58182526 GA G 42 idl,rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=877;PC=0.099;Gene=HSD11B1/NM_001206741.1/0;CC=c.517+46delA;VC=Intron;Gene=HSD11B1/NM_181755.2/1;CC=c.517+46delA;VC=Intron;Gene=HSD11B1/NM_005525.3/0;CC=c.517+46delA;VC=Intron;DM=HSD11B1/adh_short;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,T,I,G:36:13:2:17:1,17,1,2,15:11,555,10,67,482:0.08,0.00,0.03,4.71,42.31:-0.04,0.00,-0.04,2.53,10.66:0.12,0.00,0.07,2.19,31.65:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:11.0,4.4,10.0,2.5,26.5:0,0,0,0,1:0,0,0,0,0:7,126,9,110,96:144,25,142,40,49:0,22,0,20,15:-,NM_181755.2(HSD11B1) c.517+36delA:-,NOT_FOUND:-,NOT_FOUND 1 209905734 rs932335 G C 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7891,C/0.2109;PC=0.060;Gene=HSD11B1/NM_001206741.1/0;CC=c.518-47G>C;VC=Intron;Gene=HSD11B1/NM_181755.2/1;CC=c.518-47G>C;VC=Intron;Gene=HSD11B1/NM_005525.3/0;CC=c.518-47G>C;VC=Intron;DM=HSD11B1/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:32:0:0:20,19:674,606:65.20,0.00:40.46,0.00:24.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,1.2:0,0:0,0:58,58:88,89:25,35:NM_181755.2(HSD11B1) c.518-47G>C,-:0.2,-:0.205367,- 1 209905925 . G . . NT END=209907648;NT GT ./. 1 209907867 . G . . NT END=209933384;NT GT ./. 1 209933331 rs6685077 A G 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.6268,G/0.3732;PC=0.410;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.-54A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:56:0:0:31,25:974,751:0.00,70.24:0.00,60.85:0.00,9.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.5,36.1:0,0:0,0:46,41:103,109:21,24:-,NM_025228.2(TRAF3IP3) c.-54A>G:-,0.33:-,NOT_FOUND 1 209933540 rs2076150 A G 235 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=141;DB;DBA=NA;PAF=A/0.627,C/.,G/0.373;PC=0.006;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.156A>G;ProtCh=p.Q52=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:141:90:0:0:68,73:2121,2425:0.00,234.90:0.00,124.20:0.00,110.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,47.5:0,0:0,0:64,67:67,77:39,36:-,NM_025228.2(TRAF3IP3) c.156A>G (p.(=)):-,0.33:-,0.377826 1 209933730 . G . . NT END=209935859;NT GT ./. 1 209933757 rs6696463 G C 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.6264,C/0.3736;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.345+28G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:22:0:0:37,29:1160,964:113.91,0.00:20.94,0.00:92.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,9.3:0,0:0,0:99,111:52,29:28,27:NM_025228.2(TRAF3IP3) c.345+28G>C,-:0.33,-:NOT_FOUND,- 1 209935031 rs6700223 G A 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5094,A/0.4906;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.346-829G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:179:20.29:0.00:20.29:1.00:0.00:1.00:60:52.8:0:0:63:47:4:NM_025228.2(TRAF3IP3) c.346-829G>A,NM_025228.2(TRAF3IP3) c.346-829G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 209935117 rs61820581 G A 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=176;PC=0.001;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.346-743G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:2:0:0:10:296:34.36:7.45:26.91:1.00:1.00:1.00:60:66.1:0:0:54:95:27:NM_025228.2(TRAF3IP3) c.346-743G>A,NM_025228.2(TRAF3IP3) c.346-743G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 209935201 rs6691905 T A 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6058,A/0.3942;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.346-659T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:6:0:0:10:277:32.44:19.74:12.70:1.00:1.00:1.00:60:66.7:0:0:97:54:27:NM_025228.2(TRAF3IP3) c.346-659T>A,NM_025228.2(TRAF3IP3) c.346-659T>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 209935282 rs61820582 A T 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1158;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.346-578A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:253:29.08:29.08:0.00:1.00:1.00:0.00:60:49.4:0:0:74:57:12:NM_025228.2(TRAF3IP3) c.346-578A>T,NM_025228.2(TRAF3IP3) c.346-578A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 209935778 rs10489342 A G 88 nt VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.627,G/0.373;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.346-82A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:54:0:0:28,27:831,913:0.00,87.66:0.00,72.62:0.00,15.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,47.3:0,0:0,0:39,72:112,79:21,33:-,NM_025228.2(TRAF3IP3) c.346-82A>G:-,0.33:-,NOT_FOUND 1 209936008 . G . . NT END=209936157;NT GT ./. 1 209936060 rs2076152 A G 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.5106,G/0.4894;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.493+53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:31:0:0:36,22:1087,743:0.00,68.09:0.00,23.80:0.00,44.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,68.4:0,0:0,0:91,132:48,16:41,8:-,NM_025228.2(TRAF3IP3) c.493+53A>G:-,NOT_FOUND:-,NOT_FOUND 1 209936064 rs113990173 T C 55 nt VT=SNV;PN=G;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.6378,C/0.3622;NP=331;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.493+57T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:30:0:0:20,34:611,1061:55.16,0.00:17.08,0.00:38.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.8,13.6:0,0:0,0:134,91:12,52:6,41:NM_025228.2(TRAF3IP3) c.493+57T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 209936216 . G . . NT END=209936412;NT GT ./. 1 209936438 . G . . NT END=209936707;NT GT ./. 1 209936466 rs7548219 A G 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.635,G/0.365;PC=0.046;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.576+29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:17:0:0:14,14:435,433:0.00,41.46:0.00,18.34:0.00,23.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.1,42.6:0,0:0,0:93,73:49,67:27,20:-,NM_025228.2(TRAF3IP3) c.576+29A>G:-,0.33:-,0.374885 1 209936571 rs6540555 A G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.6338,G/0.3662;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.576+134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,G:21:12:0:0:15,6:492,193:0.00,16.71:0.00,11.04:0.00,5.67:0.00,0.93:0.00,0.96:0.00,0.94:60,60:5.0,83.3:0,0:0,0:63,47:88,103:36,32:-,NM_025228.2(TRAF3IP3) c.576+134A>G:-,0.32:-,NOT_FOUND 1 209936631 rs6540556 G A 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6386,A/0.3614;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.577-77G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:28:0:0:11,27:349,876:30.23,0.00:23.32,0.00:6.91,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:76.6,6.9:0,0:0,0:54,46:96,105:38,31:NM_025228.2(TRAF3IP3) c.577-77G>A,-:0.32,-:0.358958,- 1 209936673 rs7536882 C G 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.6364,G/0.3636;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.577-35C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:37:0:0:27,19:900,657:0.00,61.23:0.00,38.74:0.00,22.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,58.5:0,0:0,0:74,52:73,98:29,36:-,NM_025228.2(TRAF3IP3) c.577-35C>G:-,0.32:-,0.373443 1 209936738 . G . . NT END=209936836;NT GT ./. 1 209936914 rs17015169 C T 96 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.6194,T/0.3806;PC=0.266;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.684C>T;ProtCh=p.A228=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:38:0:0:32,30:1041,1000:0.00,95.69:0.00,49.36:0.00,46.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,40.2:0,0:0,0:109,85:40,52:26,36:-,NM_025228.2(TRAF3IP3) c.684C>T (p.(=)):-,0.34:-,0.362525 1 209936933 . G . . NT END=209941507;NT GT ./. 1 209936964 rs34406510 T TCA 51 nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6064,TCA/0.3936;NP=767;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.702+32_702+33insCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCA:36:15:17:0:1,18,17:24,569,532:1.12,0.00,50.77:-0.06,0.00,18.91:1.18,0.00,31.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:79.0,6.1,38.4:0,0,0:0,0,0:126,111,101:25,39,50:0,29,21:-,NM_025228.2(TRAF3IP3) c.702+32_702+33insCA:-,0.36:-,0.375619 1 209937168 rs12079960 A C 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6106,C/0.3894;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.702+236A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C:8:0:0:0:5,3:149,101:0.00,9.23:0.00,0.00:0.00,9.23:0.00,0.67:0.00,0.00:0.00,0.67:60,60:2.4,64.0:0,0:0,0:125,79:26,72:8,18:-,NM_025228.2(TRAF3IP3) c.702+236A>C:-,0.35:-,NOT_FOUND 1 209937212 rs3753606 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.611,C/0.389;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.702+280T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:0:0:0:3,1:84,34:8.85,0.00:0.00,0.00:8.85,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:64.0,0.0:0,0:0,0:123,138:28,13:18,0:NM_025228.2(TRAF3IP3) c.702+280T>C,-:0.35,-:NOT_FOUND,- 1 209942006 . G . . NT END=209946292;NT GT ./. 1 209946365 . G . . NT END=209948634;NT GT ./. 1 209948835 . G . . NT END=209948918;NT GT ./. 1 209949082 . G . . NT END=209950696;NT GT ./. 1 209950486 rs648349 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7188,G/0.2812;PC=0.007;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.1054-211A>G;VC=Intron;Gene=TRAF3IP3/NM_001287754.1/0;CC=c.262-211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:6:0:0:7:234:26.74:23.16:3.58:1.00:1.00:1.00:60:34.9:0:0:75:76:11:NM_025228.2(TRAF3IP3) c.1054-211A>G,NM_025228.2(TRAF3IP3) c.1054-211A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 1 209950681 rs649275 T C 181 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.3862,C/0.6138;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.1054-16T>C;VC=Intron;Gene=TRAF3IP3/NM_001287754.1/0;CC=c.262-16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:C,G:51:45:0:0:50,1:1574,5:180.66,0.05:134.79,0.05:45.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.9,170.0:0,0:0,0:49,44:95,107:24,0:NM_025228.2(TRAF3IP3) c.1054-16T>C,NM_025228.2(TRAF3IP3) c.1054-16T>C:0.64,0.64:0.611256,0.611256 1 209950760 rs669694 C G 270 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.1877,G/0.8123;PC=1.000;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.1117C>G;ProtCh=p.Q373E;VC=Missense;Gene=TRAF3IP3/NM_001287754.1/0;CC=c.325C>G;ProtCh=p.Q109E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:73:50:0:0:73:2351:269.85:121.51:148.34:1.00:1.00:1.00:60:56.8:0:0:61:89:37:NM_025228.2(TRAF3IP3) c.1117C>G (p.Gln373Glu),NM_025228.2(TRAF3IP3) c.1117C>G (p.Gln373Glu):0.81,0.81:0.818699,0.818699 1 209950833 . G . . NT END=209951455;NT GT ./. 1 209951400 rs41303303 C G 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.1190-56C>G;VC=Intron;Gene=TRAF3IP3/NM_001287754.1/0;CC=c.398-56C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:28:0:0:14,23:433,757:0.00,76.07:0.00,42.97:0.00,33.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,47.0:0,0:0,0:48,31:102,119:30,19:-,NM_025228.2(TRAF3IP3) c.1190-56C>G:-,0.03:-,0.046211 1 209951519 . G . . NT END=209952659;NT GT ./. 1 209952720 . G . . NT END=209953814;NT GT ./. 1 209952865 rs623360 C G 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7188,G/0.2812;Gene=TRAF3IP3/NR_109871.1/0;VC=NonCoding;Gene=TRAF3IP3/NM_025228.3/1;CC=c.1312+146C>G;VC=Intron;Gene=TRAF3IP3/NM_001287754.1/0;CC=c.*117C>G;VC=3UTR;Gene=C1orf74/NM_152485.3/1;CC=c.*3305G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C,G:13:0:0:0:1,12:10,407:0.00,45.05:0.00,0.00:0.00,45.05:0.00,1.00:0.00,0.00:0.00,1.00:60,60:90.0,34.8:0,0:0,0:95,67:55,82:0,29:NM_025228.2(TRAF3IP3) c.1312+146C>G,NM_025228.2(TRAF3IP3) c.1312+146C>G:0.3,0.3:NOT_FOUND,NOT_FOUND 1 209953571 rs2076153 A G 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5459,G/0.4541;PC=0.001;Gene=TRAF3IP3/NM_025228.3/1;CC=c.1313-244A>G;VC=Intron;Gene=C1orf74/NM_152485.3/1;CC=c.*2599T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:284:33.08:33.08:0.00:1.00:1.00:0.00:60:45.4:0:0:59:91:16:NM_025228.2(TRAF3IP3) c.1313-244A>G,NM_025228.2(TRAF3IP3) c.1313-244A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 209953952 . G . . NT END=209954689;NT GT ./. 1 209954804 . G . . NT END=209955400;NT GT ./. 1 209955494 . A . . NT END=209956169;NT GT ./. 1 209956980 . C . . NT END=209961764;NT GT ./. 1 209961990 . C . . NT END=209963011;NT GT ./. 1 209963131 . C . . NT END=209963839;NT GT ./. 1 209964233 . C . . NT END=209964240;NT GT ./. 1 209964368 . C . . NT END=209965613;NT GT ./. 1 209965773 . C . . NT END=209968634;NT GT ./. 1 209968319 rs6685182 A C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4036,C/0.5964;PC=0.056;Gene=IRF6/NM_001206696.1/0;CC=c.223+316T>G;VC=Intron;Gene=IRF6/NM_006147.3/1;CC=c.508+316T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:170:19.38:19.38:0.00:1.00:1.00:0.00:60:49.4:0:0:56:95:40:NM_006147.3(IRF6) c.508+316T>G,NM_006147.3(IRF6) c.508+316T>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 209968764 . C . . NT END=209969692;NT GT ./. 1 209969898 . C . . NT END=209974584;NT GT ./. 1 209969979 rs71571914 A AAC 12 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;PC=0.008;Gene=IRF6/NM_001206696.1/0;CC=c.-111-83_-111-82insGT;VC=Intron;Gene=IRF6/NM_006147.3/1;CC=c.175-83_175-82insGT;VC=Intron;DM=IRF6/IRF;DM=IRF6/IRF;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,C,AAC,D:30:9:8:1:21,2,6,1:616,46,215,29:0.00,2.64,11.90,1.59:0.00,-0.11,1.22,-0.05:0.00,2.75,10.69,1.64:0.00,0.00,0.89,0.00:0.00,0.00,0.80,0.00:0.00,0.00,0.99,0.00:60,60,60,60:5.0,68.0,70.3,0.0:0,0,2,0:0,0,0,0:134,68,52,75:15,83,86,76:11,3,17,0:-,NM_006147.3(IRF6) c.175-83_175-82insGT:-,NOT_FOUND:-,NOT_FOUND 1 209974528 . CA C 16 idl,rn VT=DEL;SST=Single;DP=16;Gene=IRF6/NM_001206696.1/0;CC=c.-111-4632delT;VC=Intron;Gene=IRF6/NM_006147.3/1;CC=c.174+56delT;VC=Intron;DM=IRF6/IRF;DM=IRF6/IRF;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:CA,I,C:14:16:5:6:5,4,5:140,167,199:0.00,12.28,15.65:0.00,12.28,14.01:0.00,0.00,1.64:0.00,0.00,0.88:0.00,0.00,0.88:0.00,0.00,0.54:60,60,60:59.8,20.0,29.2:0,1,1:0,0,0:51,53,48:100,98,102:36,14,28:-,NM_006147.3(IRF6) c.174+56delT:-,NOT_FOUND:-,NOT_FOUND 1 209974759 . G . . NT END=210001408;NT GT ./. 1 209990067 rs200732512 T TGTGTGA 11 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.598,TGTGTGA/0.402;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=12;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TGTGTGA:3:3:4:0:3:131:10.76:9.28:1.48:0.85:0.99:0.95:60:16.0:1:0:54:66:18:chr1 g.209990067_209990068insGTGTGA (intergenic),chr1 g.209990067_209990068insGTGTGA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 209997557 rs6143596 G GCACACACA 11 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=19;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,GCACACACA:4:4:3:0:1,3:34,101:0.00,10.55:0.00,8.98:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,9.3:0,0:0,0:116,40:31,111:0,11:-,NM_014388.6(DIEXF) c.-97-u3755_-97-u3754insCACACACA:-,NOT_FOUND:-,NOT_FOUND 1 210001048 rs660975 A C,T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5337,C/0.4663;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:C,T:4:4:0:0:3,1:97,11:10.76,0.98:10.76,0.98:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:81.3,104.0:0,0:0,0:51,45:92,106:7,0:NM_014388.6(DIEXF) c.-97-u264A>C,NM_014388.6(DIEXF) c.-97-u264A>T:0.46,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 210001125 rs398050047 GC G 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GC/0.5339,G/0.4661;DB;DBA=NA;PAF=GC/0.5339,G/0.4661;NP=61;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:GC,G:4:4:0:5:1,3:12,101:0.00,10.58:0.00,10.58:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:167.0,56.3:0,0:0,0:128,100:2,51:0,35:-,NM_014388.6(DIEXF) c.-97-u186delC:-,0.46:-,NOT_FOUND 1 210001173 rs661755 C T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6933,T/0.3067 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:83:10.12:10.12:0.00:1.00:1.00:0.00:60:100.8:0:0:75:72:37:NM_014388.6(DIEXF) c.-97-u139C>T,NM_014388.6(DIEXF) c.-97-u139C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 210001233 rs661849 C T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1823,T/0.8177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:T:7:7:0:0:7:179:21.13:21.13:0.00:1.00:1.00:0.00:60:79.7:0:0:37:113:16:NM_014388.6(DIEXF) c.-97-u79C>T,NM_014388.6(DIEXF) c.-97-u79C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 210001516 . G . . NT END=210003452;NT GT ./. 1 210001586 rs616227 A G 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5333,G/0.4667;Gene=DIEXF/NM_014388.6/1;CC=c.107+71A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:3:0:0:17:527:60.78:7.35:53.42:1.00:1.00:1.00:60:35.5:0:0:129:22:12:NM_014388.6(DIEXF) c.107+71A>G,NM_014388.6(DIEXF) c.107+71A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 210001713 rs674346 C A,T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5333,A/0.4667 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,T:5:0:0:0:4,1:111,10:12.59,0.79:0.00,0.00:12.59,0.79:0.96,0.00:0.00,0.00:0.96,0.00:60,60:51.5,18.0:0,0:0,0:125,94:25,50:5,0:NM_014388.6(DIEXF) c.107+198C>A,NM_014388.6(DIEXF) c.107+198C>T:0.46,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 210003388 rs599663 A C 131 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.6965,C/0.3035;Gene=DIEXF/NM_014388.6/1;CC=c.108-65A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C:36:33:0:0:36:1137:130.83:94.29:36.54:1.00:1.00:1.00:60:65.0:0:0:47:99:32:NM_014388.6(DIEXF) c.108-65A>C,NM_014388.6(DIEXF) c.108-65A>C:0.33,0.33:0.376259,0.376259 1 210003402 rs599649 T C 134 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.4095,C/0.5905;Gene=DIEXF/NM_014388.6/1;CC=c.108-51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:C:38:34:0:0:38:1156:133.61:85.80:47.81:1.00:1.00:1.00:60:66.8:0:0:57:90:26:NM_014388.6(DIEXF) c.108-51T>C,NM_014388.6(DIEXF) c.108-51T>C:0.6,0.6:0.706597,0.706597 1 210003493 . G . . NT END=210004147;NT GT ./. 1 210003845 rs74156248 T TA 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5972,TA/0.4028,TAA/.;DB;DBA=NA;PAF=T/0.5972,TA/0.4028;DB;DBA=NA;PAF=NA;NP=2;Gene=DIEXF/NM_014388.6/1;CC=c.148-288dupA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:T,TA,D:6:4:3:1:2,3,1:67,86,30:0.00,8.52,2.54:0.00,6.35,2.62:0.00,2.17,-0.08:0.00,0.73,0.00:0.00,0.51,0.00:0.00,0.79,0.00:60,60,60:0.0,27.7,10.0:0,0,0:0,0,0:115,70,4:35,80,146:30,33,0:-,NM_014388.6(DIEXF) c.148-303_148-302insA:-,NOT_FOUND:-,NOT_FOUND 1 210004199 rs585627 C G 296 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.4099,G/0.5901;PC=1.000;Gene=DIEXF/NM_014388.6/1;CC=c.199C>G;ProtCh=p.Q67E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:81:63:0:0:81:2576:295.96:199.86:96.10:1.00:1.00:1.00:60:39.4:0:0:73:76:36:NM_014388.6(DIEXF) c.199C>G (p.Gln67Glu),NM_014388.6(DIEXF) c.199C>G (p.Gln67Glu):0.6,0.6:0.703137,0.703137 1 210004389 . G . . NT END=210006529;NT GT ./. 1 210004613 rs627069 C G 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4095,G/0.5905;Gene=DIEXF/NM_014388.6/1;CC=c.388+225C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:241:27.44:0.00:27.44:1.00:0.00:1.00:60:87.1:0:0:87:63:29:NM_014388.6(DIEXF) c.388+225C>G,NM_014388.6(DIEXF) c.388+225C>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 210004626 rs627087 A G 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4095,G/0.5905;Gene=DIEXF/NM_014388.6/1;CC=c.388+238A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:191:21.96:0.00:21.96:1.00:0.00:1.00:60:96.2:0:0:90:60:21:NM_014388.6(DIEXF) c.388+238A>G,NM_014388.6(DIEXF) c.388+238A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 210004682 rs627459 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4093,G/0.5907;PC=0.001;Gene=DIEXF/NM_014388.6/1;CC=c.388+294C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:122:14.10:0.00:14.10:1.00:0.00:1.00:60:88.0:0:0:121:24:10:NM_014388.6(DIEXF) c.388+294C>G,NM_014388.6(DIEXF) c.388+294C>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 210006437 rs655712 G A 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4099,A/0.5901;Gene=DIEXF/NM_014388.6/1;CC=c.389-93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:19:0:0:19:591:68.11:64.24:3.88:1.00:1.00:1.00:60:67.2:0:0:49:102:24:NM_014388.6(DIEXF) c.389-93G>A,NM_014388.6(DIEXF) c.389-93G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 1 210006438 rs655713 C T 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4099,T/0.5901;Gene=DIEXF/NM_014388.6/1;CC=c.389-92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:19:0:0:19:598:68.85:64.98:3.88:1.00:1.00:1.00:60:67.2:0:0:50:101:24:NM_014388.6(DIEXF) c.389-92C>T,NM_014388.6(DIEXF) c.389-92C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 1 210006603 rs656566 C T 208 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.4097,T/0.5903;Gene=DIEXF/NM_014388.6/1;CC=c.462C>T;ProtCh=p.P154=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:40:0:0:54:1823:208.03:115.54:92.50:1.00:1.00:1.00:60:38.1:0:0:83:66:29:NM_014388.6(DIEXF) c.462C>T (p.(=)),NM_014388.6(DIEXF) c.462C>T (p.(=)):0.6,0.6:0.706443,0.706443 1 210006704 . G . . NT END=210008419;NT GT ./. 1 210006873 rs657844 T G 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4101,G/0.5899;Gene=DIEXF/NM_014388.6/1;CC=c.562+170T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:185:21.33:0.00:21.33:1.00:0.00:1.00:60:65.0:0:0:94:56:39:NM_014388.6(DIEXF) c.562+170T>G,NM_014388.6(DIEXF) c.562+170T>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 210006884 rs657861 C G 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4103,G/0.5897;Gene=DIEXF/NM_014388.6/1;CC=c.562+181C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:134:15.75:0.00:15.75:1.00:0.00:1.00:60:69.4:0:0:73:77:14:NM_014388.6(DIEXF) c.562+181C>G,NM_014388.6(DIEXF) c.562+181C>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 210008367 rs685248 C G 99 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4097,G/0.5903;Gene=DIEXF/NM_014388.6/1;CC=c.563-53C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:24:0:0:26:862:98.56:76.64:21.92:1.00:1.00:1.00:60:43.8:0:0:69:80:26:NM_014388.6(DIEXF) c.563-53C>G,NM_014388.6(DIEXF) c.563-53C>G:0.6,0.6:0.710031,0.710031 1 210008509 . G . . NT END=210010145;NT GT ./. 1 210008673 rs686582 T G 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4095,A/.,G/0.5905;Gene=DIEXF/NM_014388.6/1;CC=c.651+165T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:234:26.74:0.00:26.74:1.00:0.00:1.00:60:75.0:0:0:108:42:22:NM_014388.6(DIEXF) c.651+165T>G,NM_014388.6(DIEXF) c.651+165T>G:0.6,0.6:NOT_FOUND,NOT_FOUND 1 210010557 . G . . NT END=210012253;NT GT ./. 1 210012102 rs1962735 A G 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.2754,G/0.7246;Gene=DIEXF/NM_014388.6/1;CC=c.1063-152A>G;VC=Intron;DM=DIEXF/UTP25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A,G:24:24:0:0:1,23:21,771:0.00,86.29:0.00,86.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:97.0,38.5:0,0:0,0:120,44:31,107:0,30:NM_014388.6(DIEXF) c.1063-152A>G,NM_014388.6(DIEXF) c.1063-152A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 210012474 . G . . NT END=210014197;NT GT ./. 1 210014093 rs654470 A T 116 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.1823,T/0.8177;Gene=DIEXF/NM_014388.6/1;CC=c.1283-105A>T;VC=Intron;DM=DIEXF/UTP25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:30:0:0:31:1015:116.28:110.72:5.57:1.00:1.00:1.00:60:39.5:0:0:35:115:29:NM_014388.6(DIEXF) c.1283-105A>T,NM_014388.6(DIEXF) c.1283-105A>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 210014401 . G . . NT END=210015609;NT GT ./. 1 210014603 rs674804 C G 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.1767,G/0.8233;Gene=DIEXF/NM_014388.6/1;CC=c.1485+203C>G;VC=Intron;DM=DIEXF/UTP25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:375:43.19:0.00:43.19:1.00:0.00:1.00:60:49.1:0:0:97:54:36:NM_014388.6(DIEXF) c.1485+203C>G,NM_014388.6(DIEXF) c.1485+203C>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 210015568 rs397818245 GCT G 127 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=GCT/0.2202,G/0.7798;DB;DBA=NA;PAF=GCT/0.2202,G/0.7798;DB;DBA=NA;PAF=NA;NP=3170;Gene=DIEXF/NM_014388.6/1;CC=c.1486-38_1486-37delTC;VC=Intron;DM=DIEXF/UTP25;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:29:0:35:35:1099:126.58:88.77:37.80:1.00:1.00:1.00:60:8.8:0:0:53:92:24:NM_014388.6(DIEXF) c.1486-41_1486-40delCT,NM_014388.6(DIEXF) c.1486-41_1486-40delCT:0.78,0.78:0.794057,0.794057 1 210015793 . G . . NT END=210015927;NT GT ./. 1 210016041 . G . . NT END=210016795;NT GT ./. 1 210017042 . G . . NT END=210024548;NT GT ./. 1 210024793 . A . . NT END=210111595;NT GT ./. 1 210111623 . G . . NT END=210126053;NT GT ./. 1 210111733 rs12025114 G A 45 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6064,A/0.3936;PC=0.927;Gene=SYT14/NM_001146261.2/1;CC=c.27+111G>A;VC=Intron;Gene=SYT14/NM_001146262.2/0;CC=c.13+111G>A;VC=Intron;Gene=SYT14/NM_001146264.2/0;CC=c.27+111G>A;VC=Intron;Gene=SYT14/NM_001256006.1/0;CC=c.-307+111G>A;VC=Intron;Gene=SYT14/NM_153262.3/0;CC=c.13+111G>A;VC=Intron;Gene=SYT14/NR_027459.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:6:0:0:15,21:485,636:45.05,0.00:11.58,0.00:33.48,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:35.0,16.5:0,0:0,0:130,102:21,42:15,37:NM_001146261.2(SYT14) c.27+111G>A,-:0.42,-:NOT_FOUND,- 1 210126102 . G . . NT END=210126399;NT GT ./. 1 210126264 rs200494206 CTTA C 25 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=CTTA/0.982,C/0.01797;NP=80;PC=0.001;Gene=SYT14/NM_001146261.2/1;CC=c.75+168_75+170delTAT;VC=Intron;Gene=SYT14/NM_001146262.2/0;CC=c.61+168_61+170delTAT;VC=Intron;Gene=SYT14/NM_001146264.2/0;CC=c.75+168_75+170delTAT;VC=Intron;Gene=SYT14/NM_001256006.1/0;CC=c.-258-131_-258-129delTAT;VC=Intron;Gene=SYT14/NM_153262.3/0;CC=c.61+168_61+170delTAT;VC=Intron;Gene=SYT14/NR_027459.2/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTA,C:24:20:0:9:15,9:470,278:0.00,25.20:0.00,19.40:0.00,5.79:0.00,1.00:0.00,1.00:0.00,0.85:60,60:9.5,18.7:0,0:0,0:47,42:103,107:28,19:-,NM_001146261.2(SYT14) c.75+164_75+166delTTA:-,0.02:-,NOT_FOUND 1 210126605 . G . . NT END=210186977;NT GT ./. 1 210187143 . G . . NT END=210189210;NT GT ./. 1 210189249 rs61820397 G A 89 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.8241,A/0.1759;PC=0.186;Gene=SYT14/NM_001146261.2/1;CC=c.361+2107G>A;VC=Intron;Gene=SYT14/NM_001146262.2/0;CC=c.226+2107G>A;VC=Intron;Gene=SYT14/NM_001146264.2/0;CC=c.361+2107G>A;VC=Intron;Gene=SYT14/NM_001256006.1/0;CC=c.112+2107G>A;VC=Intron;Gene=SYT14/NM_153262.3/0;CC=c.226+2107G>A;VC=Intron;Gene=SYT14/NR_027459.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:44:0:0:29,29:924,955:88.78,0.00:55.24,0.00:33.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,7.3:0,0:0,0:69,76:81,66:35,27:NM_001146261.2(SYT14) c.361+2107G>A,-:0.18,-:NOT_FOUND,- 1 210190242 rs227221 T C 116 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.3956,C/0.6044;Gene=SYT14/NM_001146261.2/1;CC=c.361+3100T>C;VC=Intron;Gene=SYT14/NM_001146262.2/0;CC=c.226+3100T>C;VC=Intron;Gene=SYT14/NM_001146264.2/0;CC=c.361+3100T>C;VC=Intron;Gene=SYT14/NM_001256006.1/0;CC=c.112+3100T>C;VC=Intron;Gene=SYT14/NM_153262.3/0;CC=c.226+3100T>C;VC=Intron;Gene=SYT14/NR_027459.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:80:56:0:0:38,42:1217,1313:115.81,0.00:80.12,0.00:35.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.8,4.7:0,0:0,0:53,76:94,71:33,34:NM_001146261.2(SYT14) c.361+3100T>C,-:0.58,-:NOT_FOUND,- 1 210190445 . G . . NT END=210194383;NT GT ./. 1 210190489 rs398074603 AT A 111 rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=AT/0.02216,A/0.9778;DB;DBA=NA;PAF=AT/0.02216,A/0.9778;DB;DBA=NA;PAF=AT/0.02216,A/0.9778;NP=114;PC=0.923;Gene=SYT14/NM_001146261.2/1;CC=c.361+3355delT;VC=Intron;Gene=SYT14/NM_001146262.2/0;CC=c.226+3355delT;VC=Intron;Gene=SYT14/NM_001146264.2/0;CC=c.361+3355delT;VC=Intron;Gene=SYT14/NM_001256006.1/0;CC=c.112+3355delT;VC=Intron;Gene=SYT14/NM_153262.3/0;CC=c.226+3355delT;VC=Intron;Gene=SYT14/NR_027459.2/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:AT,A:41:11:0:33:8,33:250,1043:0.00,111.25:0.00,15.99:0.00,95.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.5,6.4:0,0:0,0:142,92:8,58:1,39:-,NM_001146261.2(SYT14) c.361+3348delT:-,0.95:-,NOT_FOUND 1 210194600 . G . . NT END=210267666;NT GT ./. 1 210267383 rs199722477 T TTAAC 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2149,TCTAA/.,TTAAC/0.7851;DB;DBA=NA;PAF=NA;NP=391;Gene=SYT14/NM_001146261.2/1;CC=c.578-281_578-280insCTAA;VC=Intron;Gene=SYT14/NM_001146262.2/0;CC=c.443-281_443-280insCTAA;VC=Intron;Gene=SYT14/NM_001146264.2/0;CC=c.578-281_578-280insCTAA;VC=Intron;Gene=SYT14/NM_001256006.1/0;CC=c.329-281_329-280insCTAA;VC=Intron;Gene=SYT14/NM_153262.3/0;CC=c.443-281_443-280insCTAA;VC=Intron;Gene=SYT14/NR_027459.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:T,TTAAC:6:6:3:0:3,3:96,100:0.00,9.63:0.00,9.63:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:18.3,0.0:0,0:0,0:29,35:122,112:3,19:-,NM_001146261.2(SYT14) c.578-284_578-283insTAAC:-,0.78:-,NOT_FOUND 1 210267939 . G . . NT END=210273356;NT GT ./. 1 210273807 . G . . NT END=210329065;NT GT ./. 1 210329256 . G . . NT END=210332765;NT GT ./. 1 210332823 . G . . NT END=210334073;NT GT ./. 1 210334388 . T . . NT END=210411305;NT GT ./. 1 210388989 rs11119443 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,G,T:5:2:0:0:2,1,2:65,9,68:0.00,0.50,6.51:0.00,0.65,-0.11:0.00,-0.15,6.63:0.00,0.00,0.46:0.00,0.00,0.70:0.00,0.00,0.87:70,60,60:0.0,184.0,205.5:0,0,0:0,0,0:135,77,117:6,73,34:7,0,10:-,chr1 g.210388988C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 210388991 rs113984051 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3856,T/0.6144;NP=65;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:5:2:0:0:2,3:63,78:0.00,7.73:0.00,0.91:0.00,6.81:0.00,0.78:0.00,0.87:0.00,0.97:70,60:0.0,198.3:0,0:0,0:137,109:4,42:7,20:-,chr1 g.210388990C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 210388993 rs141806948 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.511,T/0.489;NP=6;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:5:2:0:0:2,3:62,78:0.00,7.73:0.00,0.91:0.00,6.81:0.00,0.78:0.00,0.87:0.00,0.97:70,60:0.0,198.3:0,0:0,0:139,111:2,40:7,20:-,chr1 g.210388992C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 210388995 rs149934795 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7318,T/0.2682 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:1:0:0:1,3:29,78:0.00,8.20:0.00,1.20:0.00,7.00:0.00,0.85:0.00,0.83:0.00,0.99:70,60:0.0,198.3:0,0:0,0:149,113:1,38:0,20:-,chr1 g.210388994C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 210411266 rs397982772 GT G 39 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=225;Gene=SERTAD4/NM_019605.3/1;CC=c.-17-9delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:45:46:3:17:28,3,14:913,99,538:0.00,6.93,39.29:0.00,7.10,32.39:0.00,-0.17,6.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,70:32.4,73.0,17.1:0,0,3:0,0,0:50,36,19:98,114,119:28,16,15:-,NM_019605.3(SERTAD4) c.-17-22delT:-,NOT_FOUND:-,NOT_FOUND 1 210411481 . G . . NT END=210412837;NT GT ./. 1 210412954 . G . . NT END=210414902;NT GT ./. 1 210414879 rs74156115 C CT 11 idl,rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=2;NP=70;Gene=SERTAD4/NM_019605.3/1;CC=c.292-10_292-9insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G,CT,D:62:53:7:4:53,2,5,2:1714,23,231,124:0.00,-0.03,11.48,3.71:0.00,0.16,4.01,1.65:0.00,-0.20,7.46,2.06:0.00,0.00,0.68,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.76,0.00:60,60,60,60:38.7,125.0,4.2,87.0:0,0,2,2:0,0,0,0:55,125,35,39:80,20,115,111:37,12,27,7:-,NM_019605.3(SERTAD4) c.292-24_292-23insT:-,NOT_FOUND:-,NOT_FOUND 1 210416438 rs60695034 C CA 21 idl,rn VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.943;Gene=SERTAD4/NM_019605.3/1;CC=c.*758+20_*758+21insA;VC=3UTR;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,C,T,CA,D:53:50:11:12:5,34,1,8,5:126,1066,10,362,334:8.37,0.00,-0.09,20.79,12.40:-0.98,0.00,-0.03,21.25,12.68:9.36,0.00,-0.05,-0.46,-0.28:0.00,0.00,0.00,0.95,0.00:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,0.78,0.00:60,60,60,60,60:120.2,18.1,10.0,22.5,14.6:0,0,0,3,5:0,0,0,0,0:91,121,121,51,76:57,24,23,68,75:18,22,0,29,17:-,NM_019605.3(SERTAD4) c.*778dupA:-,NOT_FOUND:-,NOT_FOUND 1 210416461 . C . . NT END=210419144;NT GT ./. 1 210419273 . G . . NT END=210419916;NT GT ./. 1 210419948 . A . . NT END=210502354;NT GT ./. 1 210439986 . CA C 14 idl,rn VT=DEL;SST=Single;DP=21;PC=0.001;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CA,I,C:16:21:5:9:8,3,5:256,158,253:0.00,7.56,14.13:0.00,7.60,14.18:0.00,-0.03,-0.06:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.49:60,60,60:25.5,49.3,53.6:0,2,3:0,0,0:123,37,48:26,92,102:22,17,36:-,chr1 g.210439987delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 210502449 . G . . NT END=210502639;NT GT ./. 1 210502580 rs10863819 A G 172 nt VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.8506,G/0.1494;PC=0.788;Gene=HHAT/NM_001122834.3/0;CC=c.-44+852A>G;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.-44+852A>G;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.94+132A>G;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.-44+132A>G;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.-44+132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:74:0:0:36,55:1089,1724:0.00,172.13:0.00,117.20:0.00,54.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,45.0:0,0:0,0:38,62:112,87:15,35:-,NM_001170587.1(HHAT) c.94+132A>G:-,0.16:-,NOT_FOUND 1 210502828 . G . . NT END=210522276;NT GT ./. 1 210522080 rs80140939 C CGTGTGT 8 idl,nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=2;Gene=HHAT/NM_001122834.3/0;CC=c.-43-171_-43-170insGTGTGT;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.-43-171_-43-170insGTGTGT;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.95-14090_95-14089insGTGTGT;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.-43-171_-43-170insGTGTGT;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.-43-171_-43-170insGTGTGT;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.-43-171_-43-170insGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:C,T,CGTGTGT,D:14:20:7:4:6,3,3,2:204,79,220,131:0.00,6.44,7.64,5.38:0.00,6.44,7.64,3.94:0.00,0.00,0.00,1.44:0.00,0.00,0.50,0.00:0.00,0.00,0.50,0.00:0.00,0.00,0.43,0.00:60,60,60,60:34.8,76.0,19.0,17.5:0,0,4,2:0,0,0,0:25,7,49,56:126,141,100,95:17,2,28,16:-,NM_001170587.1(HHAT) c.95-14116_95-14115insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 210522411 . G . . NT END=210536195;NT GT ./. 1 210536078 rs2294848 C G 152 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.1995,G/0.8005;Gene=HHAT/NM_001122834.3/0;CC=c.92-118C>G;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.92-118C>G;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.95-118C>G;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.92-118C>G;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.92-118C>G;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.92-118C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A,G,T:44:43:0:0:1,42,1:11,1330,20:0.25,152.07,0.89:0.25,148.21,0.89:0.00,3.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.97,0.00:60,60,60:23.0,38.0,42.0:0,0,0:0,0,0:127,43,75:24,107,76:0,21,0:NM_001170587.1(HHAT) c.95-118C>G,NM_001170587.1(HHAT) c.95-118C>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 210536264 . G . . NT END=210560811;NT GT ./. 1 210536457 rs2294847 A T 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1989,T/0.8011;Gene=HHAT/NM_001122834.3/0;CC=c.159+194A>T;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.159+194A>T;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.162+194A>T;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.159+194A>T;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.159+194A>T;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.159+194A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:248:29.04:0.00:29.04:1.00:0.00:1.00:60:46.8:0:0:76:75:34:NM_001170587.1(HHAT) c.162+194A>T,NM_001170587.1(HHAT) c.162+194A>T:0.78,0.78:NOT_FOUND,NOT_FOUND 1 210560926 . G . . NT END=210573811;NT GT ./. 1 210574007 . G . . NT END=210577807;NT GT ./. 1 210577873 rs2066721 G C 348 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.24,C/0.76;PC=0.581;Gene=HHAT/NM_001122834.3/0;CC=c.534G>C;ProtCh=p.L178=;VC=Silent;Gene=HHAT/NM_001170564.2/0;CC=c.274-13625G>C;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.537G>C;ProtCh=p.L179=;VC=Silent;Gene=HHAT/NM_001170588.2/0;CC=c.339G>C;ProtCh=p.L113=;VC=Silent;Gene=HHAT/NM_018194.5/0;CC=c.534G>C;ProtCh=p.L178=;VC=Silent;Gene=HHAT/NM_001170580.2/1;CC=c.534G>C;ProtCh=p.L178=;VC=Silent;DM=HHAT/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:90:69:0:0:90:3056:348.42:196.89:151.53:1.00:1.00:1.00:60:54.3:0:0:85:55:28:NM_001170587.1(HHAT) c.537G>C (p.(=)),NM_001170587.1(HHAT) c.537G>C (p.(=)):0.76,0.76:0.778948,0.778948 1 210577884 rs2294851 G A 127 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.8766,A/0.1234;PC=1.000;Gene=HHAT/NM_001122834.3/0;CC=c.545G>A;ProtCh=p.S182N;VC=Missense;Gene=HHAT/NM_001170564.2/0;CC=c.274-13614G>A;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.548G>A;ProtCh=p.S183N;VC=Missense;Gene=HHAT/NM_001170588.2/0;CC=c.350G>A;ProtCh=p.S117N;VC=Missense;Gene=HHAT/NM_018194.5/0;CC=c.545G>A;ProtCh=p.S182N;VC=Missense;Gene=HHAT/NM_001170580.2/1;CC=c.545G>A;ProtCh=p.S182N;VC=Missense;DM=HHAT/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:90:67:0:0:42,47,1:1334,1569,10:126.69,0.00,-0.12:67.24,0.00,-0.12:59.45,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.0,38.0,102.0:0,0,0:0,0,0:96,89,62:47,57,89:28,24,0:NM_001170587.1(HHAT) c.548G>A (p.Ser183Asn),-:0.15,-:0.104644,- 1 210578024 . G . . NT END=210591497;NT GT ./. 1 210591670 . G . . NT END=210637848;NT GT ./. 1 210591742 rs398074604 TG T 123 rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=TG/0.3882,T/0.6118;DB;DBA=NA;PAF=TG/0.3882,T/0.6118;DB;DBA=NA;PAF=TG/0.3882,T/0.6118;NP=2687;PC=0.063;Gene=HHAT/NM_001122834.3/0;CC=c.856+79delG;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.445+79delG;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.859+79delG;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.661+79delG;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.856+79delG;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.856+79delG;VC=Intron;DM=HHAT/MBOAT;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:TG,T:40:7:0:36:4,36:125,1112:0.00,122.72:0.00,12.43:0.00,110.29:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.0,8.2:0,0:0,0:144,102:5,48:2,27:-,NM_001170587.1(HHAT) c.859+74delG:-,NOT_FOUND:-,NOT_FOUND 1 210638000 . G . . NT END=210686496;NT GT ./. 1 210686533 . G . . NT END=210761241;NT GT ./. 1 210686570 rs4545340 A G 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2887,G/0.7113;PC=0.001;Gene=HHAT/NM_001122834.3/0;CC=c.1043+38A>G;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.632+38A>G;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.1046+38A>G;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.848+38A>G;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.1043+38A>G;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.1043+38A>G;VC=Intron;DM=HHAT/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:7:0:0:13:439:50.10:20.67:29.43:1.00:1.00:1.00:60:39.1:0:0:107:44:17:NM_001170587.1(HHAT) c.1046+38A>G,NM_001170587.1(HHAT) c.1046+38A>G:0.7,0.7:0.729167,0.729167 1 210686614 rs12142231 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8958,G/0.1042;Gene=HHAT/NM_001122834.3/0;CC=c.1043+82A>G;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.632+82A>G;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.1046+82A>G;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.848+82A>G;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.1043+82A>G;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.1043+82A>G;VC=Intron;DM=HHAT/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,G:7:3:0:0:4,3:128,103:0.00,9.66:0.00,1.32:0.00,8.34:0.00,0.69:0.00,0.83:0.00,0.93:60,60:33.0,68.3:0,0:0,0:112,134:38,17:6,12:-,NM_001170587.1(HHAT) c.1046+82A>G:-,0.08:-,0.112506 1 210761444 . G . . NT END=210796869;NT GT ./. 1 210761462 rs4297293 G C 205 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.05012,C/0.9499,T/.;Gene=HHAT/NM_001122834.3/0;CC=c.1245+19G>C;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.834+19G>C;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.1248+19G>C;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.1050+19G>C;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.1245+19G>C;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.1245+19G>C;VC=Intron;DM=HHAT/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:147:C,G,T:59:23:0:0:57,1,1:1798,14,13:204.70,0.00,0.28:50.46,0.00,-0.01:154.24,0.00,0.29:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,18.0,43.0:0,0,0:0,0,0:96,146,70:42,5,81:28,0,0:NM_001170587.1(HHAT) c.1248+19G>C,NM_001170587.1(HHAT) c.1248+19G>C:0.96,0.96:0.949923,0.949923 1 210796591 rs7548424 T C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1735,C/0.8265;PC=0.017;Gene=HHAT/NM_001122834.3/0;CC=c.1246-279T>C;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.835-279T>C;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.1249-279T>C;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.1051-279T>C;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.1246-279T>C;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.1246-279T>C;VC=Intron;DM=HHAT/MBOAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:181:20.92:20.92:0.00:1.00:1.00:0.00:60:58.2:0:0:39:106:22:NM_001170587.1(HHAT) c.1249-279T>C,NM_001170587.1(HHAT) c.1249-279T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 210797015 . G . . NT END=210847629;NT GT ./. 1 210847514 rs1934615 A T 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3353,A/0.6647;Gene=HHAT/NM_001122834.3/0;CC=c.1391-116A>T;VC=Intron;Gene=HHAT/NM_001170564.2/0;CC=c.980-116A>T;VC=Intron;Gene=HHAT/NM_001170587.2/0;CC=c.1394-116A>T;VC=Intron;Gene=HHAT/NM_001170588.2/0;CC=c.1196-116A>T;VC=Intron;Gene=HHAT/NM_018194.5/0;CC=c.1391-116A>T;VC=Intron;Gene=HHAT/NM_001170580.2/1;CC=c.1391-116A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:G,T:14:14:0:0:1,13:6,446:0.19,50.38:0.19,50.38:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:171.0,38.5:0,0:0,0:108,37:43,114:0,22:NM_001170587.1(HHAT) c.1394-116A>T,NM_001170587.1(HHAT) c.1394-116A>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 210847722 . T . . NT END=210856622;NT GT ./. 1 210856585 rs3135473 G T 182 nt VT=SNV;PN=G;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.2432,T/0.7568;Gene=KCNH1/NM_002238.3/0;CC=c.*38C>A;VC=3UTR;Gene=KCNH1/NM_172362.2/1;CC=c.*38C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:T:56:47:0:0:56:1559:182.30:139.03:43.27:1.00:1.00:1.00:60:43.2:0:0:49:101:34:NM_172362.2(KCNH1) c.*38C>A,NM_172362.2(KCNH1) c.*38C>A:0.71,0.71:0.758243,0.758243 1 210857457 rs1135317 A G 326 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.2606,G/0.7394;PC=0.001;Gene=KCNH1/NM_002238.3/0;CC=c.2055T>C;ProtCh=p.D685=;VC=Silent;Gene=KCNH1/NM_172362.2/1;CC=c.2136T>C;ProtCh=p.D712=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:90:39:0:0:90:2828:325.52:97.71:227.81:1.00:1.00:1.00:60:42.5:0:0:92:56:34:NM_172362.2(KCNH1) c.2136T>C (p.(=)),NM_172362.2(KCNH1) c.2136T>C (p.(=)):0.7,0.7:0.741387,0.741387 1 210857481 . C . . NT END=210948689;NT GT ./. 1 210907239 rs1890844 A C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4265,C/0.5735,G/.;PC=0.005;Gene=KCNH1/NM_002238.3/0;CC=c.2031+41451T>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.2112+41451T>G;VC=Intron;DM=KCNH1/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,C:4:3:0:0:2,2:62,68:0.00,6.55:0.00,5.11:0.00,1.44:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,81.0:0,0:0,0:54,47:97,103:23,23:-,NM_172362.2(KCNH1) c.2112+41451T>G:-,0.58:-,NOT_FOUND 1 210907291 . TCA T 10 rn VT=DEL;SST=Single;DP=5;NP=4;Gene=KCNH1/NM_002238.3/0;CC=c.2031+41397_2031+41398delTG;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.2112+41397_2112+41398delTG;VC=Intron;DM=KCNH1/cNMP_binding;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,TCA,T:5:4:0:5:1,1,3:35,36,95:3.18,0.00,9.87:3.18,0.00,4.73:0.00,0.00,5.13:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.87:60,60,70:70.0,0.0,33.3:0,0,0:0,0,0:122,129,50:28,22,101:0,0,33:-,NM_172362.2(KCNH1) c.2112+41397_2112+41398delTG:-,NOT_FOUND:-,NOT_FOUND 1 210928183 rs61196743 C CAG 15 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1366,CAG/0.8634;NP=11;Gene=KCNH1/NM_002238.3/0;CC=c.2031+20506_2031+20507insCT;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.2112+20506_2112+20507insCT;VC=Intron;DM=KCNH1/cNMP_binding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,G,CAG:10:7:5:0:4,1,5:140,35,156:0.00,2.79,15.27:0.00,2.86,6.99:0.00,-0.07,8.29:0.00,0.00,0.95:0.00,0.00,0.99:0.00,0.00,0.96:60,60,60:107.8,35.0,6.6:0,1,0:0,0,0:55,5,71:95,146,79:22,0,13:-,NM_172362.2(KCNH1) c.2112+20506_2112+20507insCT:-,NOT_FOUND:-,NOT_FOUND 1 210928184 rs2358213 G A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=100;Gene=KCNH1/NM_002238.3/0;CC=c.2031+20506C>T;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.2112+20506C>T;VC=Intron;DM=KCNH1/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,G:10:7:0:0:4,6:141,171:13.10,0.00:8.14,0.00:4.96,0.00:0.84,0.00:0.96,0.00:0.46,0.00:60,60:107.8,11.3:0,8:0,0:56,72:94,76:22,6:NM_172362.2(KCNH1) c.2112+20506C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 210928187 rs2358212 C G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=17;PC=0.001;Gene=KCNH1/NM_002238.3/0;CC=c.2031+20503G>C;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.2112+20503G>C;VC=Intron;DM=KCNH1/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,G:7:5:0:3:3,4:89,133:0.00,13.13:0.00,8.34:0.00,4.80:0.00,0.90:0.00,0.98:0.00,0.97:60,60:11.0,107.5:3,0:0,0:74,65:36,85:10,25:-,NM_172362.2(KCNH1) c.2112+20503G>C:-,NOT_FOUND:-,NOT_FOUND 1 210928188 rs138294727 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=16;Gene=KCNH1/NM_002238.3/0;CC=c.2031+20502T>C;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.2112+20502T>C;VC=Intron;DM=KCNH1/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,G:7:5:0:3:3,4:74,128:0.00,12.65:0.00,7.45:0.00,5.20:0.00,0.90:0.00,0.98:0.00,0.97:60,60:11.0,107.8:0,0:0,0:75,60:35,90:10,22:-,NM_172362.2(KCNH1) c.2112+20502T>C:-,NOT_FOUND:-,NOT_FOUND 1 210948887 . C . . NT END=210970849;NT GT ./. 1 210970823 rs142798110 T TG 77 nt VT=INS;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.8876,TG/0.1124;NP=1360;PC=0.001;Gene=KCNH1/NM_002238.3/0;CC=c.1834+26dupC;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1915+26dupC;VC=Intron;DM=KCNH1/cNMP_binding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:76:68:28:0:48,28:1453,856:0.00,77.28:0.00,59.71:0.00,17.57:0.00,1.00:0.00,1.00:0.00,1.00:60,70:17.1,8.9:1,0:0,0:55,72:95,79:31,22:-,NM_172362.2(KCNH1) c.1915+26_1915+27insC:-,0.11:-,0.194649 1 210971103 . C . . NT END=210977308;NT GT ./. 1 210977509 . C . . NT END=211092981;NT GT ./. 1 211032696 rs4951669 C G 120 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.399,G/0.601;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55188G>C;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55188G>C;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:19:0:0:32:1050:120.21:63.94:56.26:1.00:1.00:1.00:60:37.6:0:0:69:80:24:NM_172362.2(KCNH1) c.1463-55188G>C,NM_172362.2(KCNH1) c.1463-55188G>C:0.61,0.61:NOT_FOUND,NOT_FOUND 1 211033278 rs4951670 T G 153 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3478;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55770A>C;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55770A>C;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:33:0:0:39:1346:153.20:105.58:47.62:1.00:1.00:1.00:60:88.9:0:0:50:93:29:NM_172362.2(KCNH1) c.1463-55770A>C,NM_172362.2(KCNH1) c.1463-55770A>C:1,1:NOT_FOUND,NOT_FOUND 1 211033317 rs4951484 G T 156 nt VT=SNV;PN=G;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=3479;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55809C>A;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55809C>A;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:35:0:0:43:1355:155.94:95.56:60.38:1.00:1.00:1.00:60:101.8:0:0:69:80:33:NM_172362.2(KCNH1) c.1463-55809C>A,NM_172362.2(KCNH1) c.1463-55809C>A:1,1:NOT_FOUND,NOT_FOUND 1 211033368 rs4951671 G C 139 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=3481;PC=0.920;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55860C>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55860C>G;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C,G:37:24:0:0:36,1:1242,27:139.38,0.00:57.57,0.00:81.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:121.0,54.0:0,0:0,0:83,133:67,17:33,0:NM_172362.2(KCNH1) c.1463-55860C>G,NM_172362.2(KCNH1) c.1463-55860C>G:1,1:NOT_FOUND,NOT_FOUND 1 211033413 rs4951672 T C 130 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=3446;PC=0.986;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55905A>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55905A>G;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:17:0:0:35:1132:129.78:43.27:86.51:1.00:1.00:1.00:60:122.1:0:0:95:56:41:NM_172362.2(KCNH1) c.1463-55905A>G,NM_172362.2(KCNH1) c.1463-55905A>G:1,1:NOT_FOUND,NOT_FOUND 1 211033442 rs4951485 A C 130 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=3442;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55934T>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55934T>G;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A,C:37:18:0:0:1,36:12,1147:0.00,130.09:0.00,59.91:0.00,70.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:91.0,113.5:0,0:0,0:7,81:137,68:0,43:NM_172362.2(KCNH1) c.1463-55934T>G,NM_172362.2(KCNH1) c.1463-55934T>G:1,1:NOT_FOUND,NOT_FOUND 1 211033446 rs4951673 G T 112 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=3443;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55938C>A;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55938C>A;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:T:32:17:0:0:32:968:111.99:49.70:62.29:1.00:1.00:1.00:60:110.9:0:0:73:77:36:NM_172362.2(KCNH1) c.1463-55938C>A,NM_172362.2(KCNH1) c.1463-55938C>A:1,1:NOT_FOUND,NOT_FOUND 1 211033457 rs55659105 TG T 118 nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=3472;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-55950delC;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-55950delC;VC=Intron;DM=KCNH1/Ion_trans;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:16:0:33:33:1022:117.93:51.07:66.85:1.00:1.00:1.00:70:102.3:0:0:84:67:44:NM_172362.2(KCNH1) c.1463-55950delC,NM_172362.2(KCNH1) c.1463-55950delC:1,1:NOT_FOUND,NOT_FOUND 1 211034143 rs4951674 T G 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1801,G/0.8199;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-56635A>C;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-56635A>C;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:6:0:0:10:319:36.64:17.76:18.88:1.00:1.00:1.00:60:35.4:0:0:99:50:22:NM_172362.2(KCNH1) c.1463-56635A>C,NM_172362.2(KCNH1) c.1463-56635A>C:0.82,0.82:NOT_FOUND,NOT_FOUND 1 211034705 rs56336842 T C 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7698,C/0.2302;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1382-57197A>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1463-57197A>G;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,C,T:9:2:0:0:1,3,5:10,91,161:0.33,8.22,0.00:-0.03,1.66,0.00:0.36,6.56,0.00:0.00,0.64,0.00:0.00,0.63,0.00:0.00,0.64,0.00:60,60,60:146.0,48.7,3.8:0,0,0:0,0,0:34,68,95:117,83,56:0,14,48:NM_172362.2(KCNH1) c.1463-57197A>G,-:0.25,-:NOT_FOUND,- 1 211035446 rs61848965 C G 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8914,G/0.1086;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.1381+57536G>C;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1462+57536G>C;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,G:11:9:0:0:2,9:69,300:0.00,32.03:0.00,21.03:0.00,11.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,35.7:0,0:0,0:30,66:119,85:15,48:-,NM_172362.2(KCNH1) c.1462+57536G>C:-,0.11:-,NOT_FOUND 1 211093412 . C . . NT END=211192124;NT GT ./. 1 211093590 rs1501569 C T 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6759,T/0.3241;Gene=KCNH1/NM_002238.3/0;CC=c.952-179G>A;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1033-179G>A;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:7,7:236,191:0.00,18.16:0.00,0.00:0.00,18.16:0.00,0.99:0.00,0.00:0.00,0.99:60,60:40.1,52.9:0,0:0,0:75,116:76,35:34,24:-,NM_172362.2(KCNH1) c.1033-179G>A:-,0.31:-,NOT_FOUND 1 211093592 rs541136372 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=KCNH1/NM_002238.3/0;CC=c.952-181A>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.1033-181A>G;VC=Intron;DM=KCNH1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:0:0:0:7,7:232,201:22.34,0.00:0.00,0.00:22.34,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:40.1,52.9:0,0:0,0:77,118:74,33:34,24:NM_172362.2(KCNH1) c.1033-181A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 211192599 . C . . NT END=211256121;NT GT ./. 1 211192707 rs11119658 G A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6412,A/0.3588;Gene=KCNH1/NM_002238.3/0;CC=c.559-109C>T;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.559-109C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:0:0:0:9,12:286,370:26.67,0.00:0.00,0.00:26.67,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:61.1,23.0:0,0:0,0:89,101:62,49:42,33:NM_172362.2(KCNH1) c.559-109C>T,-:0.34,-:NOT_FOUND,- 1 211192794 rs4951704 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2366,C/0.7634;Gene=KCNH1/NM_002238.3/0;CC=c.559-196A>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.559-196A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:244:27.74:0.00:27.74:1.00:0.00:1.00:60:58.9:0:0:112:39:11:NM_172362.2(KCNH1) c.559-196A>G,NM_172362.2(KCNH1) c.559-196A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 1 211255936 rs4620600 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3251,A/0.6749;Gene=KCNH1/NM_002238.3/0;CC=c.558+186C>T;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.558+186C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:190:21.86:21.86:0.00:1.00:1.00:0.00:60:34.0:0:0:44:106:5:NM_172362.2(KCNH1) c.558+186C>T,NM_172362.2(KCNH1) c.558+186C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 211256241 . C . . NT END=211263903;NT GT ./. 1 211264033 . C . . NT END=211276837;NT GT ./. 1 211264140 rs79802694 A G 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9004,G/0.09964;PC=0.823;Gene=KCNH1/NM_002238.3/0;CC=c.311-108T>C;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.311-108T>C;VC=Intron;DM=KCNH1/PAS_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:6:0:0:7,12:210,398:0.00,40.11:0.00,10.95:0.00,29.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,41.2:0,0:0,0:91,93:60,57:26,44:-,NM_172362.2(KCNH1) c.311-108T>C:-,0.09:-,NOT_FOUND 1 211276945 . C . . NT END=211280595;NT GT ./. 1 211280720 . C . . NT END=211307208;NT GT ./. 1 211280724 rs558365456 TA T 48 idl,rn VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=142;PC=1.000;Gene=KCNH1/NM_002238.3/0;CC=c.80-6delT;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.80-6delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:68:34:1:24:48,1,19:1374,25,691:0.00,0.86,48.11:0.00,0.48,10.45:0.00,0.38,37.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:26.2,61.0,16.5:2,0,4:0,0,0:114,130,75:36,20,75:27,0,32:-,NM_172362.2(KCNH1) c.80-6delT:-,NOT_FOUND:-,NOT_FOUND 1 211280737 rs77214996 A AC 39 idl,nt VT=INS;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.9,AAA/.,AAC/0.001797,AC/0.09525;DB;DBA=NA;PAF=A/0.9,C/0.002995;NP=1;NP=324;Gene=KCNH1/NM_002238.3/0;CC=c.80-19_80-18insG;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.80-19_80-18insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AC:62:23:18:0:41,6,15:1287,200,554:0.00,14.93,39.25:0.00,3.97,14.98:0.00,10.96,24.27:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:21.3,42.5,18.2:0,0,3:0,0,0:87,37,85:54,111,57:35,31,25:-,NM_172362.2(KCNH1) c.80-19_80-18insG:-,NOT_FOUND:-,NOT_FOUND 1 211285187 rs56741924 T C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=204;PC=0.005;Gene=KCNH1/NM_002238.3/0;CC=c.80-4468A>G;VC=Intron;Gene=KCNH1/NM_172362.2/1;CC=c.80-4468A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:114:13.27:5.32:7.95:1.00:1.00:1.00:55:60.2:0:0:118:33:1:NM_172362.2(KCNH1) c.80-4468A>G,NM_172362.2(KCNH1) c.80-4468A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 211307288 . C . . NT END=211432902;NT GT ./. 1 211317279 rs71134656 ATGTGTGTG A 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=95;PC=0.003;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:ATGTGTGTG,A:3:3:0:3:1,2:18,98:0.00,6.65:0.00,1.79:0.00,4.87:0.00,0.51:0.00,0.89:0.00,0.51:45,60:69.0,0.0:0,1:0,0:117,91:26,59:0,5:-,chr1 g.211317280_211317287delTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 211346858 rs3120778 T C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8075,C/0.1925;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:55.0:0:0:98:52:27:chr1 g.211346857T>C (intergenic),chr1 g.211346857T>C (intergenic):0.17,0.17:NOT_FOUND,NOT_FOUND 1 211346925 rs3120779 G A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4034,A/0.5966;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:150:17.38:17.38:0.00:1.00:1.00:0.00:60:62.4:0:0:57:94:30:chr1 g.211346924G>A (intergenic),chr1 g.211346924G>A (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 1 211347069 rs3111226 G A 125 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8115,A/0.1885;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:25:0:0:32:1098:125.06:71.42:53.64:1.00:1.00:1.00:60:35.3:0:0:83:61:21:chr1 g.211347068G>A (intergenic),chr1 g.211347068G>A (intergenic):0.16,0.16:NOT_FOUND,NOT_FOUND 1 211404886 . TAC T 10 rn VT=DEL;SST=Single;DP=5;NP=20;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TAC,T:4:5:0:4:1,3:34,131:0.00,10.17:0.00,5.08:0.00,5.08:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,6.3:0,1:0,0:137,44:13,83:0,18:-,chr1 g.211404887_211404888delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 211433072 . G . . NT END=211433288;NT GT ./. 1 211433266 . GC G 6 rn VT=DEL;SST=Single;DP=25;PC=0.010;Gene=RCOR3/NM_001136225.1/0;CC=c.167-175delC;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.167-175delC;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.167-175delC;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,GC,G:25:4:0:3:1,21,3:9,681,89:-0.12,0.00,6.41:-0.05,0.00,-0.17:-0.07,0.00,6.58:0.00,0.00,0.46:0.00,0.00,0.41:0.00,0.00,0.88:60,60,60:137.0,15.2,21.7:0,0,0:0,0,0:60,61,55:83,89,93:0,49,2:-,NM_001136223.1(RCOR3) c.167-183delC:-,NOT_FOUND:-,NOT_FOUND 1 211433507 . G . . NT END=211444573;NT GT ./. 1 211433737 rs4951734 G T 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.04113,T/0.9589;PC=0.012;Gene=RCOR3/NM_001136225.1/0;CC=c.223+231G>T;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.223+231G>T;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.223+231G>T;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.49+231G>T;VC=Intron;DM=RCOR3/ELM2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:241:27.44:0.00:27.44:1.00:0.00:1.00:60:76.0:0:0:103:48:20:NM_001136223.1(RCOR3) c.223+231G>T,NM_001136223.1(RCOR3) c.223+231G>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 211433753 rs4951735 G A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.04113,A/0.9589;Gene=RCOR3/NM_001136225.1/0;CC=c.223+247G>A;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.223+247G>A;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.223+247G>A;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.49+247G>A;VC=Intron;DM=RCOR3/ELM2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:184:21.26:0.00:21.26:1.00:0.00:1.00:60:72.5:0:0:117:34:19:NM_001136223.1(RCOR3) c.223+247G>A,NM_001136223.1(RCOR3) c.223+247G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 211444652 . G . . NT END=211447551;NT GT ./. 1 211447435 rs5780634 CT C 17 sb,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CT/0.05691,C/0.9431;DB;DBA=NA;PAF=CT/0.05691,C/0.9431;NP=1203;PC=0.007;Gene=RCOR3/NM_001136225.1/0;CC=c.302-107delT;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.302-107delT;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.302-107delT;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.128-107delT;VC=Intron;DM=RCOR3/ELM2;DM=RCOR3/Myb_DNA-binding;DM=RCOR3/Myb_DNA-binding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CT,C:6:7:0:6:1,5:36,194:0.00,17.31:0.00,15.82:0.00,1.49:0.00,0.98:0.00,0.98:0.00,0.93:60,60:0.0,4.4:0,1:0,0:141,41:10,109:0,22:-,NM_001136223.1(RCOR3) c.302-116delT:-,NOT_FOUND:-,NOT_FOUND 1 211447605 . G . . NT END=211449598;NT GT ./. 1 211447625 rs11580084 G A 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5439,A/0.4561;PC=0.004;Gene=RCOR3/NM_001136225.1/0;CC=c.354+21G>A;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.354+21G>A;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.354+21G>A;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.180+21G>A;VC=Intron;DM=RCOR3/ELM2;DM=RCOR3/Myb_DNA-binding;DM=RCOR3/Myb_DNA-binding;DM=RCOR3/Myb_DNA-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:10:0:0:17:566:64.71:26.74:37.97:1.00:1.00:1.00:60:35.3:0:0:104:47:33:NM_001136223.1(RCOR3) c.354+21G>A,NM_001136223.1(RCOR3) c.354+21G>A:0.51,0.51:0.472859,0.472859 1 211449451 rs10732682 A G 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.04513,G/0.9549;Gene=RCOR3/NM_001136225.1/0;CC=c.355-148A>G;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.355-148A>G;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.355-148A>G;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.181-148A>G;VC=Intron;DM=RCOR3/ELM2;DM=RCOR3/Myb_DNA-binding;DM=RCOR3/Myb_DNA-binding;DM=RCOR3/Myb_DNA-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:249:28.71:28.71:0.00:1.00:1.00:0.00:60:43.5:0:0:46:103:9:NM_001136223.1(RCOR3) c.355-148A>G,NM_001136223.1(RCOR3) c.355-148A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 211449761 . G . . NT END=211451458;NT GT ./. 1 211451584 . G . . NT END=211452579;NT GT ./. 1 211452529 rs564217764 TA T 43 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=693;PC=0.005;Gene=RCOR3/NM_001136225.1/0;CC=c.642-36delA;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.642-36delA;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.642-36delA;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.468-36delA;VC=Intron;DM=RCOR3/Myb_DNA-binding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:TA,I,T:19:23:1:17:5,1,13:159,34,549:0.00,2.42,42.77:0.00,1.18,39.71:0.00,1.24,3.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,70:33.8,0.0,13.3:0,0,4:0,0,0:128,115,54:15,36,97:16,0,36:-,NM_001136223.1(RCOR3) c.642-50delA:-,NOT_FOUND:-,NOT_FOUND 1 211452659 . G . . NT END=211462519;NT GT ./. 1 211452678 rs3767377 G A 158 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5433,A/0.4567;PC=0.053;Gene=RCOR3/NM_001136225.1/0;CC=c.720+20G>A;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.720+20G>A;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.720+20G>A;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.546+20G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A:44:26:0:0:44:1372:158.03:57.90:100.13:1.00:1.00:1.00:70:54.0:0:0:111:34:25:NM_001136223.1(RCOR3) c.720+20G>A,NM_001136223.1(RCOR3) c.720+20G>A:0.51,0.51:0.473012,0.473012 1 211452728 rs3767378 G A 121 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.5433,A/0.4567;Gene=RCOR3/NM_001136225.1/0;CC=c.720+70G>A;VC=Intron;Gene=RCOR3/NM_001136223.1/1;CC=c.720+70G>A;VC=Intron;Gene=RCOR3/NM_001136224.2/0;CC=c.720+70G>A;VC=Intron;Gene=RCOR3/NM_018254.3/0;CC=c.546+70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:7:0:0:32:1061:121.36:19.68:101.68:1.00:1.00:1.00:60:65.2:0:0:111:38:25:NM_001136223.1(RCOR3) c.720+70G>A,NM_001136223.1(RCOR3) c.720+70G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 211462739 . G . . NT END=211469017;NT GT ./. 1 211469096 . G . . NT END=211477424;NT GT ./. 1 211477483 . G . . NT END=211486061;NT GT ./. 1 211486656 . t . . NT END=211486765;NT GT ./. 1 211487111 . A . . NT END=211500040;NT GT ./. 1 211487347 rs397772982 GT G 25 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GT/0.5435,G/0.4565;DB;DBA=NA;PAF=GT/0.5435,G/0.4565;NP=77;PC=0.954;Gene=RCOR3/NM_001136223.1/1;CC=c.*239delT;VC=3UTR;Gene=RCOR3/NM_001136224.2/0;CC=c.*348delT;VC=3UTR;Gene=RCOR3/NM_018254.3/0;CC=c.*239delT;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:7:7:213:24.64:0.00:24.64:1.00:0.00:1.00:60:17.4:0:0:108:43:24:NM_001136223.1(RCOR3) c.*238T[1],NM_001136223.1(RCOR3) c.*238T[1]:0.51,0.51:NOT_FOUND,NOT_FOUND 1 211500232 . G . . NT END=211519705;NT GT ./. 1 211519765 . G . . NT END=211526580;NT GT ./. 1 211526800 . G . . NT END=211527751;NT GT ./. 1 211527609 rs7530570 C A 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.0009984,A/0.999;NP=2026;Gene=TRAF5/NM_004619.3/0;CC=c.219-143C>A;VC=Intron;Gene=TRAF5/NM_001033910.2/0;CC=c.219-143C>A;VC=Intron;Gene=TRAF5/NM_145759.2/1;CC=c.219-143C>A;VC=Intron;DM=TRAF5/zf-C3HC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:17:0:0:17:522:60.24:60.24:0.00:1.00:1.00:0.00:60:42.5:0:0:65:86:37:NM_001033910.2(TRAF5) c.219-143C>A,NM_001033910.2(TRAF5) c.219-143C>A:1,1:NOT_FOUND,NOT_FOUND 1 211527810 . G . . NT END=211529708;NT GT ./. 1 211529569 rs7550702 T C 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5276,C/0.4724;PC=0.044;Gene=TRAF5/NM_004619.3/0;CC=c.277-140T>C;VC=Intron;Gene=TRAF5/NM_001033910.2/0;CC=c.277-140T>C;VC=Intron;Gene=TRAF5/NM_145759.2/1;CC=c.277-140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,T:12:12:0:0:11,1:351,17:38.84,0.00:38.84,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,30:36.5,231.0:0,0:0,0:36,125:115,26:28,0:NM_001033910.2(TRAF5) c.277-140T>C,NM_001033910.2(TRAF5) c.277-140T>C:0.52,0.52:NOT_FOUND,NOT_FOUND 1 211529811 . G . . NT END=211533220;NT GT ./. 1 211533027 rs2292483 G A 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4155,A/0.5845;Gene=TRAF5/NM_004619.3/0;CC=c.379-227G>A;VC=Intron;Gene=TRAF5/NM_001033910.2/0;CC=c.379-227G>A;VC=Intron;Gene=TRAF5/NM_145759.2/1;CC=c.379-227G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:A,C:12:12:0:0:11,1:362,10:41.03,0.50:41.03,0.50:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.9,161.0:0,0:0,0:44,50:107,101:28,0:NM_001033910.2(TRAF5) c.379-227G>A,NM_001033910.2(TRAF5) c.379-227G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 211533419 . G . . NT END=211534043;NT GT ./. 1 211534122 . G . . NT END=211534429;NT GT ./. 1 211534505 . G . . NT END=211538717;NT GT ./. 1 211538811 . G . . NT END=211542793;NT GT ./. 1 211542935 . G . . NT END=211544643;NT GT ./. 1 211544813 . G . . NT END=211545469;NT GT ./. 1 211545442 rs574701888 CT C 80 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=176;PC=0.028;Gene=TRAF5/NM_004619.3/0;CC=c.1100-12delT;VC=Intron;Gene=TRAF5/NM_001033910.2/0;CC=c.1100-12delT;VC=Intron;Gene=TRAF5/NM_145759.2/1;CC=c.1100-12delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:50:49:1:32:23,1,26:696,32,947:0.00,1.77,79.61:0.00,1.79,58.89:0.00,-0.02,20.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:36.3,106.0,29.6:0,0,4:0,0,0:93,78,34:58,73,114:23,0,22:-,NM_001033910.2(TRAF5) c.1100-27delT:-,NOT_FOUND:-,NOT_FOUND 1 211546045 . T . . NT END=211652377;NT GT ./. 1 211589785 rs2920908 G A 342 nt VT=SNV;PN=C;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.5286,A/0.4714;PC=0.003;Gene=LINC00467/NR_026761.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:93:85:0:0:91,2:2990,27:341.50,0.74:236.66,0.74:104.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,56:38.8,57.5:0,0:0,0:48,137:97,13:26,7:NR_026761.2(LINC00467) n.469-9768G>A,NR_026761.2(LINC00467) n.469-9768G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 1 211590892 rs1877476 A G 199 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.09425,G/0.9058;PC=1.000;Gene=LINC00467/NR_026761.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:28:0:0:53:1739:199.14:80.77:118.37:1.00:1.00:1.00:60:41.0:0:0:77:73:35:NR_026761.2(LINC00467) n.469-8661A>G,NR_026761.2(LINC00467) n.469-8661A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 211591135 rs1707247 T C 274 nt VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.05851,C/0.9415;PC=0.998;Gene=LINC00467/NR_026761.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:56:0:0:76:2383:274.37:165.92:108.46:1.00:1.00:1.00:60:40.2:0:0:46:103:34:NR_026761.2(LINC00467) n.469-8418T>C,NR_026761.2(LINC00467) n.469-8418T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 211591358 rs58522555 T TA 21 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5154,TA/0.4846;DB;DBA=NA;PAF=T/0.5154,TA/0.4846;NP=224;PC=0.319;Gene=LINC00467/NR_026761.2/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:19:1:10:0:11,8:281,294:0.00,21.11:0.00,-0.21:0.00,21.32:0.00,0.99:0.00,0.59:0.00,1.00:60,60:30.6,27.1:1,2:0,0:135,104:12,46:9,22:-,NR_026761.2(LINC00467) n.469-8195_469-8194insA:-,0.54:-,NOT_FOUND 1 211615935 rs1707267 A G 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.02935,G/0.9706;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:225:25.84:25.84:0.00:1.00:1.00:0.00:60:32.4:0:0:33:117:20:chr1 g.211615934A>G (intergenic),chr1 g.211615934A>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 1 211633989 rs375652132 GC G 8 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=43;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GC,G:4:3:0:3:1,3:35,74:0.00,7.85:0.00,6.10:0.00,1.74:0.00,0.85:0.00,0.99:0.00,0.95:60,40:172.0,80.7:0,0:0,0:120,79:31,47:0,25:-,chr1 g.211633990delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 211652670 . C . . NT END=211654461;NT GT ./. 1 211654758 . A . . NT END=211748729;NT GT ./. 1 211749632 . C . . NT END=211751332;NT GT ./. 1 211751025 rs2278652 A G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8115,G/0.1885;PC=0.005;Gene=SLC30A1/NM_021194.2/1;CC=c.622+308T>C;VC=Intron;DM=SLC30A1/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,G:7:7:0:0:3,4:102,127:0.00,12.53:0.00,10.81:0.00,1.72:0.00,0.90:0.00,0.90:0.00,0.71:60,60:29.3,78.8:0,0:0,0:71,36:79,104:22,3:-,NM_021194.2(SLC30A1) c.622+308T>C:-,0.16:-,NOT_FOUND 1 211751060 rs2278651 A G 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3722,G/0.6278;Gene=SLC30A1/NM_021194.2/1;CC=c.622+273T>C;VC=Intron;DM=SLC30A1/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:11:11:0:0:3,8:82,238:0.00,24.78:0.00,22.91:0.00,1.87:0.00,1.00:0.00,1.00:0.00,0.82:60,60:29.3,60.6:0,0:0,0:106,49:44,101:22,22:-,NM_021194.2(SLC30A1) c.622+273T>C:-,0.62:-,NOT_FOUND 1 211751955 . G . . NT END=211836113;NT GT ./. 1 211752148 rs11810058 T C 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8171,C/0.1829;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:10,8:307,227:30.12,0.00:0.00,0.00:30.12,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:54.6,25.5:0,0:0,0:133,120:17,30:11,15:NM_021194.2(SLC30A1) c.-145-u49A>G,-:0.18,-:NOT_FOUND,- 1 211827248 rs147841653 GA G 13 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GA/0.9914,G/0.008586;NP=17;Gene=LOC105748977/NR_131925.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GA,G:5:1:0:4:1,4:36,125:0.00,13.32:0.00,-0.35:0.00,13.67:0.00,0.96:0.00,0.87:0.00,0.96:60,60:0.0,21.5:0,0:0,0:108,104:24,41:0,6:-,chr1 g.211827249delA (intergenic):-,0.01:-,NOT_FOUND 1 211836192 rs397796243 G GA 51 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.622,GA/0.378;DB;DBA=NA;PAF=G/0.622,GA/0.378;NP=43;PC=0.004;Gene=NEK2/NM_001204182.1/1;CC=c.1112-4139dupT;VC=Intron;Gene=NEK2/NM_002497.3/0;CC=c.*575dupT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:39:39:19:1:21,17,1:713,605,30:0.00,51.02,1.64:0.00,43.57,1.67:0.00,7.45,-0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,70,60:10.4,22.3,41.0:0,2,0:0,0,0:64,48,23:86,102,128:27,28,0:-,NM_001204182.1(NEK2) c.1112-4139_1112-4138insT:-,NOT_FOUND:-,NOT_FOUND 1 211836995 . C . . NT END=211839771;NT GT ./. 1 211839882 . c . . NT END=211840142;NT GT ./. 1 211840278 rs1542140 T C 113 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.7119,C/0.2881;Gene=NEK2/NM_001204182.1/1;CC=c.1111+170A>G;VC=Intron;Gene=NEK2/NM_002497.3/0;CC=c.1111+170A>G;VC=Intron;Gene=NEK2/NM_001204183.1/0;CC=c.*126A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:42:0:0:39,20:1112,626:113.21,0.00:63.90,0.00:49.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,9.9:0,0:0,0:79,113:72,31:51,25:NM_001204182.1(NEK2) c.1111+170A>G,-:0.3,-:NOT_FOUND,- 1 211840574 . C . . NT END=211842454;NT GT ./. 1 211842675 . C . . NT END=211843622;NT GT ./. 1 211842808 rs697004 A C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1534,C/0.8466;Gene=NEK2/NM_001204182.1/1;CC=c.766-134T>G;VC=Intron;Gene=NEK2/NM_002497.3/0;CC=c.766-134T>G;VC=Intron;Gene=NEK2/NM_001204183.1/0;CC=c.766-134T>G;VC=Intron;DM=NEK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:376:43.75:0.00:43.75:1.00:0.00:1.00:60:70.2:0:0:118:31:29:NM_001204182.1(NEK2) c.766-134T>G,NM_001204182.1(NEK2) c.766-134T>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 211843609 rs2289725 C A 87 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.9211,A/0.07887;PC=0.001;Gene=NEK2/NM_001204182.1/1;CC=c.765+14G>T;VC=Intron;Gene=NEK2/NM_002497.3/0;CC=c.765+14G>T;VC=Intron;Gene=NEK2/NM_001204183.1/0;CC=c.765+14G>T;VC=Intron;DM=NEK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:50:41:0:0:28,22:887,742:87.16,0.00:67.43,0.00:19.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,4.3:0,0:0,0:53,80:97,65:28,28:NM_001204182.1(NEK2) c.765+14G>T,-:0.07,-:0.02668,- 1 211843750 . C . . NT END=211844543;NT GT ./. 1 211844627 . C . . NT END=211846824;NT GT ./. 1 211846876 rs701929 A G 180 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.397,G/0.603;PC=0.015;Gene=NEK2/NM_001204182.1/1;CC=c.504T>C;ProtCh=p.H168=;VC=Silent;Gene=NEK2/NM_002497.3/0;CC=c.504T>C;ProtCh=p.H168=;VC=Silent;Gene=NEK2/NM_001204183.1/0;CC=c.504T>C;ProtCh=p.H168=;VC=Silent;DM=NEK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:117:85:0:0:56,60,1:1874,1866,11:0.00,180.23,-0.10:0.00,106.04,-0.02:0.00,74.19,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.8,34.5,87.0:0,0,0:0,0,0:84,53,81:66,97,70:22,34,0:-,NM_001204182.1(NEK2) c.504T>C (p.(=)):-,0.59:-,0.501461 1 211847066 . C . . NT END=211847637;NT GT ./. 1 211847579 rs2305015 G T 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9209,T/0.07907;Gene=NEK2/NM_001204182.1/1;CC=c.314+59C>A;VC=Intron;Gene=NEK2/NM_002497.3/0;CC=c.314+59C>A;VC=Intron;Gene=NEK2/NM_001204183.1/0;CC=c.314+59C>A;VC=Intron;DM=NEK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:23:0:0:16,9:497,249:0.00,22.10:0.00,18.55:0.00,3.55:0.00,1.00:0.00,1.00:0.00,0.76:60,60:11.8,61.4:0,0:0,0:36,25:115,126:33,16:-,NM_001204182.1(NEK2) c.314+59C>A:-,0.07:-,NOT_FOUND 1 211847586 rs2305014 A T 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.9205,T/0.07947;Gene=NEK2/NM_001204182.1/1;CC=c.314+52T>A;VC=Intron;Gene=NEK2/NM_002497.3/0;CC=c.314+52T>A;VC=Intron;Gene=NEK2/NM_001204183.1/0;CC=c.314+52T>A;VC=Intron;DM=NEK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:28:25:0:0:19,9:589,294:0.00,26.06:0.00,21.32:0.00,4.74:0.00,0.99:0.00,1.00:0.00,0.79:60,60:10.0,61.4:0,0:0,0:37,32:114,119:35,16:-,NM_001204182.1(NEK2) c.314+52T>A:-,0.07:-,0.027565 1 211847856 . C . . NT END=211848725;NT GT ./. 1 211848822 . G . . NT END=211923240;NT GT ./. 1 211902129 rs701915 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2362,C/0.7638;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:7:5:0:0:5,2:146,69:15.06,0.00:5.35,0.00:9.71,0.00:0.98,0.00:1.00,0.00:0.98,0.00:60,60:53.8,33.5:1,0:0,0:68,41:70,46:59,5:chr1 g.211902128T>C (intergenic),-:0.74,-:NOT_FOUND,- 1 211923393 . C . . NT END=211924302;NT GT ./. 1 211923435 rs11585946 G A 135 nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9541,A/0.04593;Gene=LPGAT1/NM_014873.2/1;CC=c.962-43C>T;VC=Intron;DM=LPGAT1/Acyltransf_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:17:0:0:36:1174:134.51:36.48:98.03:1.00:1.00:1.00:60:41.9:0:0:94:46:22:NM_014873.2(LPGAT1) c.962-43C>T,NM_014873.2(LPGAT1) c.962-43C>T:0.05,0.05:0.076757,0.076757 1 211924410 . C . . NT END=211952259;NT GT ./. 1 211952106 rs1539195 C T 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4968,T/0.5032;PC=0.868;Gene=LPGAT1/NM_014873.2/1;CC=c.854+154G>A;VC=Intron;DM=LPGAT1/Acyltransf_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:364:41.65:41.65:0.00:1.00:1.00:0.00:60:39.8:0:0:34:117:26:NM_014873.2(LPGAT1) c.854+154G>A,NM_014873.2(LPGAT1) c.854+154G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 211952387 . C . . NT END=211956570;NT GT ./. 1 211956845 . C . . NT END=211960973;NT GT ./. 1 211961070 . C . . NT END=211966413;NT GT ./. 1 211966533 . C . . NT END=212002400;NT GT ./. 1 212002666 . C . . NT END=212002791;NT GT ./. 1 212003211 rs5780661 C CT 183 idl,rn VT=INS;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.497,CT/0.503;DB;DBA=NA;PAF=C/0.497,CT/0.503;DB;DBA=NA;PAF=C/0.497,CT/0.503;NP=295;Gene=LPGAT1/NM_014873.2/1;CC=c.-27-547dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CT:77:50:61:0:1,19,57:7,569,1874:-0.05,0.00,183.18:-0.03,0.00,105.73:-0.01,0.00,77.45:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:128.0,24.5,21.1:0,0,4:0,0,0:93,93,76:58,49,74:0,32,34:-,NM_014873.2(LPGAT1) c.-27-547_-27-546insA:-,NOT_FOUND:-,NOT_FOUND 1 212003673 . C . . NT END=212003914;NT GT ./. 1 212004180 . G . . NT END=212048474;NT GT ./. 1 212048526 . C . . NT END=212115165;NT GT ./. 1 212048583 rs4623773 G T 166 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.2514,T/0.7486;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:T:43:23:0:0:43:1454:165.91:54.18:111.73:1.00:1.00:1.00:60:35.7:0:0:102:40:25:chr1 g.212048582G>T (intergenic),chr1 g.212048582G>T (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 1 212086960 rs68045282 AAC A 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=162;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AAC,A:4:3:0:3:1,3:35,81:0.00,8.54:0.00,2.45:0.00,6.10:0.00,0.85:0.00,0.99:0.00,0.85:60,60:0.0,4.0:0,0:0,0:124,84:26,37:0,30:-,chr1 g.212086961_212086962delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 212115454 . C . . NT END=212118125;NT GT ./. 1 212118312 . C . . NT END=212119948;NT GT ./. 1 212120048 . C . . NT END=212125910;NT GT ./. 1 212126044 . C . . NT END=212139771;NT GT ./. 1 212139841 . C . . NT END=212141219;NT GT ./. 1 212141324 . C . . NT END=212141854;NT GT ./. 1 212142050 . C . . NT END=212148507;NT GT ./. 1 212142054 rs397716951 GA G 13 idl,rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=GA/0.6142,G/0.3858;DB;DBA=NA;PAF=GA/0.6142,G/0.3858;NP=263;PC=0.858;Gene=INTS7/NM_001199809.1/0;CC=c.1669-6delT;VC=Intron;Gene=INTS7/NM_001199811.1/0;CC=c.1816-6delT;VC=Intron;Gene=INTS7/NM_001199812.1/0;CC=c.1816-6delT;VC=Intron;Gene=INTS7/NM_015434.3/1;CC=c.1816-6delT;VC=Intron;Gene=INTS7/NR_037667.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,GA,I,G:56:22:5:7:1,45,4,6:8,1245,151,207:-0.24,0.00,7.68,13.43:-0.09,0.00,2.09,3.02:-0.15,0.00,5.59,10.41:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.98:60,60,70,60:122.0,30.4,15.8,37.5:0,1,1,1:0,0,0,0:51,91,77,89:100,55,61,62:0,21,36,26:-,NM_015434.3(INTS7) c.1816-6delT:-,NOT_FOUND:-,NOT_FOUND 1 212148715 . C . . NT END=212149923;NT GT ./. 1 212150062 . C . . NT END=212151613;NT GT ./. 1 212151854 . C . . NT END=212154434;NT GT ./. 1 212154533 . C . . NT END=212156017;NT GT ./. 1 212156153 . C . . NT END=212161227;NT GT ./. 1 212156175 rs71646136 T C 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9904,C/0.009585;Gene=INTS7/NM_001199809.1/0;CC=c.851-23A>G;VC=Intron;Gene=INTS7/NM_001199811.1/0;CC=c.998-23A>G;VC=Intron;Gene=INTS7/NM_001199812.1/0;CC=c.998-23A>G;VC=Intron;Gene=INTS7/NM_015434.3/1;CC=c.998-23A>G;VC=Intron;Gene=INTS7/NR_037667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:11:0:0:10,14:347,448:32.39,0.00:6.11,0.00:26.29,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:39.4,0.7:0,0:0,0:127,95:23,55:16,30:NM_015434.3(INTS7) c.998-23A>G,-:0.01,-:0.016838,- 1 212161346 . C . . NT END=212179980;NT GT ./. 1 212180104 . C . . NT END=212180591;NT GT ./. 1 212180792 . C . . NT END=212184716;NT GT ./. 1 212184764 . C . . NT END=212190227;NT GT ./. 1 212190366 . C . . NT END=212193463;NT GT ./. 1 212193611 . C . . NT END=212194062;NT GT ./. 1 212194055 rs149674423 G T 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.999,T/0.0009984;NP=2;PC=0.001;Gene=INTS7/NM_001199809.1/0;CC=c.224+370C>A;VC=Intron;Gene=INTS7/NM_001199811.1/0;CC=c.224+370C>A;VC=Intron;Gene=INTS7/NM_001199812.1/0;CC=c.224+370C>A;VC=Intron;Gene=INTS7/NM_015434.3/1;CC=c.224+370C>A;VC=Intron;Gene=INTS7/NR_037667.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:33:28:0:0:12,21:397,664:0.00,66.99:0.00,44.50:0.00,22.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,33.2:0,0:0,0:41,47:107,97:18,22:-,NM_015434.3(INTS7) c.224+370C>A:-,0.0014:-,NOT_FOUND 1 212194097 . C . . NT END=212194424;NT GT ./. 1 212194555 . C . . NT END=212208685;NT GT ./. 1 212208780 . G . . NT END=212209232;NT GT ./. 1 212209285 . G . . NT END=212216334;NT GT ./. 1 212216461 . G . . NT END=212218001;NT GT ./. 1 212217944 rs373465088 G GA 8 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=DTL/NM_001286229.1/0;CC=c.-531-42_-531-41insA;VC=Intron;Gene=DTL/NM_001286230.1/0;CC=c.53-42_53-41insA;VC=Intron;Gene=DTL/NM_016448.3/1;CC=c.179-42_179-41insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,G,T,GA:19:17:3:0:1,14,1,3:12,468,19,100:0.19,0.00,0.80,7.98:0.27,0.00,-0.25,8.24:-0.08,0.00,1.05,-0.26:0.00,0.00,0.00,0.51:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.66:60,60,60,60:78.0,14.6,40.0,19.0:0,0,0,0:0,0,0,0:99,54,24,97:52,93,124,54:0,15,0,5:-,NM_016448.2(DTL) c.179-58_179-57insA:-,NOT_FOUND:-,NOT_FOUND 1 212218101 . G . . NT END=212220492;NT GT ./. 1 212218254 rs538333740 G A 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=3;PC=0.013;Gene=DTL/NM_001286229.1/0;CC=c.-433+154G>A;VC=Intron;Gene=DTL/NM_001286230.1/0;CC=c.151+154G>A;VC=Intron;Gene=DTL/NM_016448.3/1;CC=c.277+154G>A;VC=Intron;DM=DTL/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:9:0:0:0:3,6:106,199:9.54,0.00:0.00,0.00:9.54,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:35.3,0.0:0,0:0,0:114,80:37,69:5,24:NM_016448.2(DTL) c.277+154G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 212220555 . G . . NT END=212220638;NT GT ./. 1 212220760 . G . . NT END=212236225;NT GT ./. 1 212225343 rs2993547 T C 148 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.003994,C/0.996;NP=2634;PC=0.813;Gene=DTL/NM_001286229.1/0;CC=c.-250+4584T>C;VC=Intron;Gene=DTL/NM_001286230.1/0;CC=c.334+4584T>C;VC=Intron;Gene=DTL/NM_016448.3/1;CC=c.460+4584T>C;VC=Intron;DM=DTL/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:26:0:0:42:1284:148.39:69.74:78.65:1.00:1.00:1.00:60:36.2:0:0:82:65:37:NR_026911.1(RPL21P28) n.51A>G,NR_026911.1(RPL21P28) n.51A>G:1,1:NOT_FOUND,NOT_FOUND 1 212236157 rs4951436 G T 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.0611,T/0.9389;PC=0.016;Gene=DTL/NM_001286229.1/0;CC=c.-249-69G>T;VC=Intron;Gene=DTL/NM_001286230.1/0;CC=c.335-69G>T;VC=Intron;Gene=DTL/NM_016448.3/1;CC=c.461-69G>T;VC=Intron;DM=DTL/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:18:0:0:19:624:71.46:61.82:9.64:1.00:1.00:1.00:60:39.9:0:0:45:106:26:NM_016448.2(DTL) c.461-69G>T,NM_016448.2(DTL) c.461-69G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 212236292 . G . . NT END=212238258;NT GT ./. 1 212238372 . G . . NT END=212240153;NT GT ./. 1 212240063 rs3738449 G A 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5485,A/0.4515;PC=0.006;Gene=DTL/NM_001286229.1/0;CC=c.-70-91G>A;VC=Intron;Gene=DTL/NM_001286230.1/0;CC=c.514-91G>A;VC=Intron;Gene=DTL/NM_016448.3/1;CC=c.640-91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:9:0:0:11:361:41.35:31.80:9.54:1.00:1.00:1.00:60:41.5:0:0:17:131:17:NM_016448.2(DTL) c.640-91G>A,NM_016448.2(DTL) c.640-91G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 212240228 . G . . NT END=212241565;NT GT ./. 1 212241670 . G . . NT END=212241940;NT GT ./. 1 212242046 . G . . NT END=212245442;NT GT ./. 1 212245556 . G . . NT END=212251514;NT GT ./. 1 212251367 rs5780675 GT G 39 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GT/0.0639,G/0.9361;DB;DBA=NA;PAF=GT/0.0639,G/0.9361;NP=1678;Gene=DTL/NM_001286229.1/0;CC=c.223-138delT;VC=Intron;Gene=DTL/NM_001286230.1/0;CC=c.910-138delT;VC=Intron;Gene=DTL/NM_016448.3/1;CC=c.1036-138delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:GT,G:12:12:0:11:1,11:36,356:0.00,39.35:0.00,39.35:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,7.9:0,0:0,0:142,59:9,92:0,19:-,NM_016448.2(DTL) c.1036-147delT:-,NOT_FOUND:-,NOT_FOUND 1 212251605 . G . . NT END=212253956;NT GT ./. 1 212254093 . G . . NT END=212273593;NT GT ./. 1 212273639 rs3135474 C T 250 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.04054,A/.,T/0.9595;PC=0.063;Gene=DTL/NM_001286229.1/0;CC=c.494C>T;ProtCh=p.A165V;VC=Missense;Gene=DTL/NM_001286230.1/0;CC=c.1181C>T;ProtCh=p.A394V;VC=Missense;Gene=DTL/NM_016448.3/1;CC=c.1307C>T;ProtCh=p.A436V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:71:64:0:0:1,70:9,2172:0.11,250.08:0.11,173.13:0.00,76.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,34.5:0,0:0,0:46,47:102,98:0,29:NM_016448.2(DTL) c.1307C>T (p.Ala436Val),NM_016448.2(DTL) c.1307C>T (p.Ala436Val):0.97,0.97:0.949331,0.949331 1 212274413 rs6540718 A C 331 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.003395,C/0.9966;NP=3478;Gene=DTL/NM_001286229.1/0;CC=c.1268A>C;ProtCh=p.K423T;VC=Missense;Gene=DTL/NM_001286230.1/0;CC=c.1955A>C;ProtCh=p.K652T;VC=Missense;Gene=DTL/NM_016448.3/1;CC=c.2081A>C;ProtCh=p.K694T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:90:35:0:0:2,88:32,2929:0.00,331.12:0.00,80.84:0.00,250.28:0.00,1.00:0.00,1.00:0.00,1.00:60,70:69.5,44.7:1,0:0,0:88,92:52,55:60,25:NM_016448.2(DTL) c.2081A>C (p.Lys694Thr),NM_016448.2(DTL) c.2081A>C (p.Lys694Thr):0.99,0.99:0.99062,0.99062 1 212274427 . G . . NT END=212276183;NT GT ./. 1 212274503 rs370447669 C CT 30 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3798,CT/0.6202;DB;DBA=NA;PAF=C/0.3798,CT/0.6202,CTT/.;DB;DBA=NA;PAF=C/0.3798,CT/0.6202;NP=172;Gene=DTL/NM_001286229.1/0;CC=c.1281+91dupT;VC=Intron;Gene=DTL/NM_001286230.1/0;CC=c.1968+91dupT;VC=Intron;Gene=DTL/NM_016448.3/1;CC=c.2094+91dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:22:1:10:1:11,10,1:347,314,24:0.00,29.85,1.32:0.00,-0.13,-0.01:0.00,29.98,1.33:0.00,1.00,0.00:0.00,0.64,0.00:0.00,1.00,0.00:60,70,60:45.5,39.9,0.0:0,0,0:0,0,0:138,118,18:13,32,133:7,15,0:-,NM_016448.2(DTL) c.2094+77_2094+78insT:-,NOT_FOUND:-,NOT_FOUND 1 212276283 . A . . NT END=212459452;NT GT ./. 1 212397307 rs71137733 ATG A 17 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=69;PC=0.002;Gene=LOC101929541/NR_125982.1/0;VC=NonCoding;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:ATG,A:6:4:0:5:1,5:33,158:0.00,17.01:0.00,8.56:0.00,8.46:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,14.4:0,0:0,0:100,63:32,88:0,19:-,chr1 g.212397308_212397309delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 212426127 rs76184350 C G 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9521,G/0.04792;PC=0.002;Gene=LOC101929541/NR_125984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:5:4:0:0:2,3:70,79:0.00,7.85:0.00,4.93:0.00,2.91:0.00,0.78:0.00,0.97:0.00,0.97:60,60:3.0,46.3:0,0:0,0:105,73:16,37:28,12:-,chr1 g.212426126C>G (intergenic):-,0.07:-,NOT_FOUND 1 212459634 . G . . NT END=212475147;NT GT ./. 1 212475435 . G . . NT END=212502476;NT GT ./. 1 212502674 . G . . NT END=212506838;NT GT ./. 1 212506941 . G . . NT END=212515529;NT GT ./. 1 212515623 . G . . NT END=212519144;NT GT ./. 1 212519276 . G . . NT END=212520688;NT GT ./. 1 212520749 . G . . NT END=212521730;NT GT ./. 1 212521639 rs701908 T G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1875,G/0.8125;PC=0.002;Gene=PPP2R5A/NM_006243.3/0;CC=c.765-92T>G;VC=Intron;Gene=PPP2R5A/NM_001199756.1/1;CC=c.594-92T>G;VC=Intron;DM=PPP2R5A/B56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:G,T:11:11:0:0:4,7:135,228:12.28,0.00:12.28,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:33.8,3.9:0,0:0,0:75,96:75,54:33,19:NM_006243.3(PPP2R5A) c.765-92T>G,-:0.83,-:NOT_FOUND,- 1 212521840 . G . . NT END=212522530;NT GT ./. 1 212522585 . G . . NT END=212529967;NT GT ./. 1 212530019 . G . . NT END=212530291;NT GT ./. 1 212530192 rs792439 T C 88 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.006589,C/0.9934;Gene=PPP2R5A/NM_006243.3/0;CC=c.979-100T>C;VC=Intron;Gene=PPP2R5A/NM_001199756.1/1;CC=c.808-100T>C;VC=Intron;DM=PPP2R5A/B56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C,T:28:16:0:0:27,1:765,10:87.63,0.00:46.64,0.00:41.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,118.0:0,0:0,0:41,116:110,35:24,0:NM_006243.3(PPP2R5A) c.979-100T>C,NM_006243.3(PPP2R5A) c.979-100T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 212530412 . G . . NT END=212530498;NT GT ./. 1 212530627 . G . . NT END=212532027;NT GT ./. 1 212530659 rs376007639 C CT 6 rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=2;NP=29;PC=0.001;Gene=PPP2R5A/NM_006243.3/0;CC=c.1226+46_1226+47insT;VC=Intron;Gene=PPP2R5A/NM_001199756.1/1;CC=c.1055+46_1055+47insT;VC=Intron;DM=PPP2R5A/B56;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,CT,D:34:17:3:3:29,3,2:896,92,89:0.00,6.31,3.34:0.00,1.66,2.58:0.00,4.64,0.76:0.00,0.40,0.00:0.00,0.67,0.00:0.00,0.81,0.00:60,60,60:21.5,13.7,27.0:0,0,1:0,0,0:107,115,92:43,36,59:30,14,9:-,NM_006243.3(PPP2R5A) c.1226+33_1226+34insT:-,NOT_FOUND:-,NOT_FOUND 1 212532130 . G . . NT END=212533979;NT GT ./. 1 212534113 . A . . NT END=212538556;NT GT ./. 1 212538719 . C . . NT END=212548534;NT GT ./. 1 212538771 . CT C 40 sb;idl,rn VT=DEL;SST=Single;DP=71;Gene=TMEM206/NM_001198862.1/1;CC=c.1075-54delA;VC=Intron;Gene=TMEM206/NM_018252.2/0;CC=c.892-54delA;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,G,T,I,C:62:21:2:25:43,1,1,1,16:1288,10,12,62,720:0.00,-0.13,-0.06,1.37,40.13:0.00,-0.09,-0.09,-0.09,-2.72:0.00,-0.03,0.04,1.47,42.85:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:16.8,102.0,77.0,10.0,33.0:0,0,0,1,8:0,0,0,0,0:120,50,6,93,79:20,64,144,58,71:22,0,0,20,36:-,NM_001198862.1(TMEM206) c.1075-54delA:-,NOT_FOUND:-,NOT_FOUND 1 212538899 rs12127560 A G 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6791,G/0.3209;PC=0.002;Gene=TMEM206/NM_001198862.1/1;CC=c.1075-181T>C;VC=Intron;Gene=TMEM206/NM_018252.2/0;CC=c.892-181T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,G:22:0:0:0:7,15:201,430:0.00,44.17:0.00,0.00:0.00,44.17:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.4,66.5:0,0:0,0:103,117:48,33:7,30:-,NM_001198862.1(TMEM206) c.1075-181T>C:-,0.34:-,NOT_FOUND 1 212538923 rs12138533 C T 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8468,T/0.1532;PC=0.001;Gene=TMEM206/NM_001198862.1/1;CC=c.1075-205G>A;VC=Intron;Gene=TMEM206/NM_018252.2/0;CC=c.892-205G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:7,11:198,329:0.00,32.92:0.00,0.00:0.00,32.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.4,62.2:0,0:0,0:127,81:24,70:7,21:-,NM_001198862.1(TMEM206) c.1075-205G>A:-,0.2:-,NOT_FOUND 1 212548643 . C . . NT END=212550903;NT GT ./. 1 212551049 . C . . NT END=212553236;NT GT ./. 1 212553380 . C . . NT END=212558615;NT GT ./. 1 212555037 rs58078220 G A 24 sb;idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7316,A/0.2684;DB;DBA=NA;PAF=NA;NP=1;NP=11;Gene=TMEM206/NM_001198862.1/1;CC=c.679-1658C>T;VC=Intron;Gene=TMEM206/NM_018252.2/0;CC=c.496-1658C>T;VC=Intron;DM=TMEM206/TMEM206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,G:8:8:0:3:7,1:218,28:23.83,0.00:22.47,0.00:1.36,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:69.0,0.0:1,0:0,0:75,131:76,20:36,0:NM_001198862.1(TMEM206) c.679-1658C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 212558768 . C . . NT END=212560232;NT GT ./. 1 212560327 rs792449 A G 433 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.00619,A/0.9938;PC=1.000;Gene=TMEM206/NM_001198862.1/1;CC=c.432T>C;ProtCh=p.F144=;VC=Silent;Gene=TMEM206/NM_018252.2/0;CC=c.249T>C;ProtCh=p.F83=;VC=Silent;DM=TMEM206/TMEM206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:117:92:0:0:117:3773:432.95:255.33:177.61:1.00:1.00:1.00:60:40.0:0:0:48:103:30:NM_001198862.1(TMEM206) c.=,NM_001198862.1(TMEM206) c.=:0.99,0.99:0.986468,0.986468 1 212560443 . C . . NT END=212583766;NT GT ./. 1 212560562 rs66860643 AC A 48 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=AC/0.8319,A/0.1681;NP=229;Gene=TMEM206/NM_001198862.1/1;CC=c.317-121delG;VC=Intron;Gene=TMEM206/NM_018252.2/0;CC=c.134-121delG;VC=Intron;DM=TMEM206/TMEM206;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:36:0:0:17:19,17:546,510:0.00,48.29:0.00,0.00:0.00,48.29:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.3,13.0:0,0:0,0:86,100:65,51:37,30:-,NM_001198862.1(TMEM206) c.317-121delG:-,0.21:-,NOT_FOUND 1 212583864 . C . . NT END=212587239;NT GT ./. 1 212587423 . C . . NT END=212588063;NT GT ./. 1 212588100 . G . . NT END=212606285;NT GT ./. 1 212606463 . G . . NT END=212615906;NT GT ./. 1 212615968 . G . . NT END=212617680;NT GT ./. 1 212617785 . G . . NT END=212619171;NT GT ./. 1 212617860 rs57220444 CGTGT C 12 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;PC=0.001;Gene=NENF/NM_013349.4/1;CC=c.342+123_342+126delGTGT;VC=Intron;Gene=NENF/NR_026598.1/0;VC=NonCoding;DM=NENF/Cyt-b5;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:CGTGT,T,C:29:10:0:15:23,1,5:655,11,315:0.00,0.00,12.43:0.00,-0.04,6.98:0.00,0.04,5.45:0.00,0.00,0.78:0.00,0.00,0.72:0.00,0.00,0.97:60,60,60:27.1,102.0,45.8:0,0,6:0,0,0:122,33,20:28,117,105:18,0,17:-,NM_013349.4(NENF) c.342+77_342+80delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 212619349 . T . . NT END=212788363;NT GT ./. 1 212788206 rs11119988 G A 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.9355,A/0.0645;PC=0.057;Gene=ATF3/NM_001030287.3/1;CC=c.-4-154G>A;VC=Intron;Gene=ATF3/NM_001040619.2/0;CC=c.-4-154G>A;VC=Intron;Gene=ATF3/NM_001206484.2/0;CC=c.-127-202G>A;VC=Intron;Gene=ATF3/NM_001206488.2/0;CC=c.-152-177G>A;VC=Intron;Gene=ATF3/NM_001674.3/0;CC=c.-4-154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:44:42:0:0:18,25,1:537,791,13:49.56,0.00,0.11:45.66,0.00,0.13:3.90,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:0.95,0.00,0.00:60,60,60:43.8,16.7,13.0:0,0,0:0,0,0:36,68,4:114,83,147:26,37,0:NM_001030287.3(ATF3) c.-4-154G>A,-:0.07,-:NOT_FOUND,- 1 212788604 . G . . NT END=212791468;NT GT ./. 1 212791288 rs68056508 CGT C 22 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=607;Gene=ATF3/NM_001030287.3/1;CC=c.241-162_241-161delGT;VC=Intron;Gene=ATF3/NM_001040619.2/0;CC=c.241-162_241-161delGT;VC=Intron;Gene=ATF3/NM_001206484.2/0;CC=c.70-162_70-161delGT;VC=Intron;Gene=ATF3/NM_001206488.2/0;CC=c.70-162_70-161delGT;VC=Intron;Gene=ATF3/NM_001674.3/0;CC=c.241-162_241-161delGT;VC=Intron;Gene=ATF3/NM_001206486.2/0;CC=c.154-162_154-161delGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:CGT,C:9:8:0:8:2,7:60,204:0.00,21.62:0.00,22.27:0.00,-0.65:0.00,1.00:0.00,1.00:0.00,0.85:60,60:0.0,0.0:0,0:0,0:66,49:84,102:64,24:-,NM_001030287.3(ATF3) c.241-180_241-179delGT:-,NOT_FOUND:-,NOT_FOUND 1 212791577 . G . . NT END=212792387;NT GT ./. 1 212792898 . G . . NT END=212798219;NT GT ./. 1 212797890 rs7533306 A G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3536,G/0.6464;PC=0.001;Gene=FAM71A/NM_153606.3/1;CC=c.-330A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,G:6:6:0:0:3,3:44,79:0.00,7.53:0.00,7.53:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:55.0,75.7:0,0:0,0:27,23:122,128:1,6:-,NM_153606.3(FAM71A) c.-330A>G:-,0.64:-,NOT_FOUND 1 212798977 rs3122712 A G 204 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.747,G/0.253;Gene=FAM71A/NM_153606.3/1;CC=c.758A>G;ProtCh=p.N253S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:139:85:0:0:73,1,65:2355,11,2146:0.00,-0.13,204.07:0.00,-0.11,110.96:0.00,-0.02,93.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.5,84.0,41.5:0,0,0:0,0,0:91,131,78:58,20,72:35,0,44:-,NM_153606.3(FAM71A) c.758A>G (p.Asn253Ser):-,0.26:-,0.340381 1 212799870 rs3122713 A G 194 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=155;DB;DBA=NA;PAF=A/0.2159,G/0.7841;PC=0.014;Gene=FAM71A/NM_153606.3/1;CC=c.1651A>G;ProtCh=p.N551D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:155:93:0:0:86,1,68:2659,12,2078:0.00,-0.12,194.24:0.00,-0.12,92.54:0.00,-0.01,101.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.6,65.0,38.3:0,0,0:0,0,0:71,34,68:77,107,81:37,0,40:-,NM_153606.3(FAM71A) c.1651A>G (p.Asn551Asp):-,0.76:-,0.840766 1 212800005 . A . . NT END=212860132;NT GT ./. 1 212860322 . C . . NT END=212870302;NT GT ./. 1 212870017 rs11584623 G A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8017,A/0.1983;Gene=BATF3/NM_018664.2/1;CC=c.195+286C>T;VC=Intron;DM=BATF3/bZIP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,G:5:5:0:0:4,1:132,10:14.08,0.00:14.08,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:51.0,136.0:0,0:0,0:54,90:93,55:7,0:NM_018664.2(BATF3) c.195+286C>T,-:0.21,-:NOT_FOUND,- 1 212870103 rs2456815 C G 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.02336,G/0.9766;Gene=BATF3/NM_018664.2/1;CC=c.195+200G>C;VC=Intron;DM=BATF3/bZIP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:322:37.38:37.38:0.00:1.00:1.00:0.00:60:45.5:0:0:17:121:11:NM_018664.2(BATF3) c.195+200G>C,NM_018664.2(BATF3) c.195+200G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 212870408 . C . . NT END=212873014;NT GT ./. 1 212873105 . G . . NT END=212900483;NT GT ./. 1 212900311 rs2292214 G C 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3906,C/0.6094;Gene=NSL1/NM_001042549.1/1;CC=c.*11728C>G;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*11439C>G;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*11698C>G;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.*173C>G;VC=3UTR;Gene=NSL1/NM_015471.3/0;CC=c.*11439C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:20:0:0:20:676:77.14:77.14:0.00:1.00:1.00:0.00:70:42.3:0:0:45:106:21:NM_015471.3(NSL1) c.*11439C>G,NM_015471.3(NSL1) c.*11439C>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 212900434 rs367736229 C CG 219 nt VT=INS;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=915;Gene=NSL1/NM_001042549.1/1;CC=c.*11604_*11605insC;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*11315_*11316insC;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*11574_*11575insC;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.*49_*50insC;VC=3UTR;Gene=NSL1/NM_015471.3/0;CC=c.*11315_*11316insC;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C,CG:62:52:61:0:1,61:30,1923:0.00,219.16:0.00,128.85:0.00,90.31:0.00,1.00:0.00,1.00:0.00,1.00:60,70:34.0,35.5:0,0:0,0:148,58:1,84:0,21:NM_015471.3(NSL1) c.*11315_*11316insC,NM_015471.3(NSL1) c.*11315_*11316insC:NOT_FOUND,NOT_FOUND:0.689136,0.689136 1 212900487 rs2244935 A G 271 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.09006,G/0.9099;PC=0.005;Gene=NSL1/NM_001042549.1/1;CC=c.*11552T>C;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*11263T>C;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*11522T>C;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.534T>C;ProtCh=p.V178=;VC=Silent;Gene=NSL1/NM_015471.3/0;CC=c.*11263T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:73:56:0:0:73:2366:271.25:147.20:124.04:1.00:1.00:1.00:60:42.8:0:0:91:55:31:NM_015471.3(NSL1) c.*11263T>C,NM_015471.3(NSL1) c.*11263T>C:0.92,0.92:0.914341,0.914341 1 212903089 rs12747251 G A 398 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.6526,A/0.3474;Gene=NSL1/NM_001042549.1/1;CC=c.*8950C>T;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*8661C>T;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*8920C>T;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-2568C>T;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*8661C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:118:74:0:0:115,2,1:3460,26,10:397.87,0.58,0.00:216.15,0.00,0.00:181.72,0.58,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,40.5,57.0:0,0,0:0,0,0:83,119,49:65,24,102:32,26,0:NM_015471.3(NSL1) c.*8661C>T,NM_015471.3(NSL1) c.*8661C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 1 212903287 . AT A 27 rn VT=DEL;SST=Single;DP=114;Gene=NSL1/NM_001042549.1/1;CC=c.*8751delA;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*8462delA;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*8721delA;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-2767delA;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*8462delA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:AT,I,A:114:62:3:12:99,3,12:3101,98,380:0.00,5.35,27.22:0.00,2.88,8.94:0.00,2.48,18.28:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:20.7,34.3,13.8:0,0,0:0,0,0:86,104,89:59,47,62:38,16,36:-,NM_015471.3(NSL1) c.*8452A[10]:-,NOT_FOUND:-,NOT_FOUND 1 212903332 . c . . NT END=212903588;NT GT ./. 1 212903363 rs11120008 C T 102 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.9812,T/0.01877;PC=0.074;Gene=NSL1/NM_001042549.1/1;CC=c.*8676G>A;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*8387G>A;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*8646G>A;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-2842G>A;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*8387G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:68:32:0:0:1,33,1,33:22,973,10,1057:0.69,0.00,-0.07,101.66:-0.09,0.00,0.06,22.42:0.78,0.00,-0.13,79.23:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:153.0,28.9,79.0,59.4:0,0,0,0:0,0,0,0:63,107,117,105:79,43,34,44:0,20,0,25:-,NM_015471.3(NSL1) c.*8387G>A:-,0.02:-,NOT_FOUND 1 212903403 rs2492786 A G 166 nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.09125,G/0.9087;PC=0.101;Gene=NSL1/NM_001042549.1/1;CC=c.*8636T>C;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*8347T>C;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*8606T>C;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-2882T>C;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*8347T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:C,G:48:18:0:0:1,47:9,1439:0.15,165.70:0.00,56.65:0.15,109.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.0,60.2:0,0:0,0:29,100:122,50:0,35:NM_015471.3(NSL1) c.*8347T>C,NM_015471.3(NSL1) c.*8347T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 212903579 . CA C 15 idl,rn VT=DEL;SST=Single;DP=44;PC=0.001;Gene=NSL1/NM_001042549.1/1;CC=c.*8459delT;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*8170delT;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*8429delT;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-3059delT;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*8170delT;VC=3UTR;RN=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CA,I,C:41:42:6:8:30,5,6:991,192,259:0.00,12.00,15.26:0.00,12.10,15.39:0.00,-0.11,-0.13:0.00,0.00,0.86:0.00,0.00,0.99:0.00,0.00,0.38:60,60,60:34.4,67.6,21.3:0,1,2:0,0,0:87,20,41:50,124,109:45,14,27:-,NM_015471.3(NSL1) c.*8143T[27]:-,NOT_FOUND:-,NOT_FOUND 1 212904496 rs71147019 AATCT A 226 PASS VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=448;PC=0.005;Gene=NSL1/NM_001042549.1/1;CC=c.*7539_*7542delAGAT;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*7250_*7253delAGAT;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*7509_*7512delAGAT;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-3979_500-3976delAGAT;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*7250_*7253delAGAT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:AATCT,A:72:52:0:66:6,66:168,2031:0.00,225.71:0.00,135.69:0.00,90.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.8,7.9:0,0:0,0:137,75:3,73:7,18:NM_015471.3(NSL1) c.*7250_*7253delAGAT,NM_015471.3(NSL1) c.*7250_*7253delAGAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 212904528 rs397861326 GA G 165 idl,rn VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=150;Gene=NSL1/NM_001042549.1/1;CC=c.*7510delT;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*7221delT;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*7480delT;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-4008delT;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*7221delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:69:57:0:61:18,51:550,1778:0.00,164.72:0.00,107.21:0.00,57.51:0.00,1.00:0.00,1.00:0.00,1.00:60,70:20.2,13.3:0,7:0,0:87,82:62,69:41,33:-,NM_015471.3(NSL1) c.*7209T[12]:-,NOT_FOUND:-,NOT_FOUND 1 212905370 rs397982826 AT A 172 idl,rn VT=DEL;SST=Single;DP=117;DB;DBA=NA;PAF=AT/0.5717,A/0.4283;DB;DBA=NA;PAF=AT/0.5717,A/0.4283;NP=36;Gene=NSL1/NM_001042549.1/1;CC=c.*6668delA;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*6379delA;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*6638delA;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-4850delA;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*6379delA;VC=3UTR;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,G,I,A:96:63:2:80:35,1,1,2,57:958,9,14,61,2316:0.00,-0.07,0.08,3.27,172.21:0.00,0.01,0.15,0.64,71.89:0.00,-0.07,-0.07,2.64,100.32:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:22.7,9.0,145.0,40.5,33.6:0,0,0,0,21:0,0,0,0,0:118,143,28,80,69:26,8,112,70,81:25,0,0,1,40:-,NM_015471.3(NSL1) c.*6362A[17]:-,NOT_FOUND:-,NOT_FOUND 1 212905410 rs397982827 TTTA T 290 PASS VT=DEL;SST=Single;DP=106;DB;DBA=NA;PAF=TTTA/0.6544,T/0.3456;DB;DBA=NA;PAF=TTTA/0.6544,T/0.3456;DB;DBA=NA;PAF=TTTA/0.6544,T/0.3456;NP=403;Gene=NSL1/NM_001042549.1/1;CC=c.*6626_*6628delTAA;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*6337_*6339delTAA;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*6596_*6598delTAA;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-4892_500-4890delTAA;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*6337_*6339delTAA;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTA,T:106:56:0:90:16,90:453,2668:0.00,290.20:0.00,122.93:0.00,167.28:0.00,1.00:0.00,1.00:0.00,1.00:60,70:28.8,19.0:0,0:0,0:142,66:7,81:6,30:-,NM_015471.3(NSL1) c.*6331TAA[2]:-,0.36:-,NOT_FOUND 1 212905658 rs547946175 C CTT 107 idl,rn VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.632,CT/0.368,CTT/.,CTTT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.632,CT/0.368,CTT/.,CTTT/.;NP=38;NP=41;PC=0.004;Gene=NSL1/NM_001042549.1/1;CC=c.*6380_*6381insAA;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*6091_*6092insAA;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*6350_*6351insAA;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-5138_500-5137insAA;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*6091_*6092insAA;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTT,D:47:20:39:3:11,33,3:332,1212,77:0.00,107.19,5.15:0.00,27.68,-0.09:0.00,79.52,5.23:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:36.8,44.5,65.7:0,6,0:0,0,0:123,79,93:14,64,58:23,26,12:-,NM_015471.3(NSL1) c.*6079A[15]:-,NOT_FOUND:-,NOT_FOUND 1 212905680 . g . . NT END=212905914;NT GT ./. 1 212905686 rs2492787 T C 177 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.09046,C/0.9095;Gene=NSL1/NM_001042549.1/1;CC=c.*6353A>G;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*6064A>G;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*6323A>G;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-5165A>G;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*6064A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:C:49:9:0:0:49:1541:177.35:18.91:158.44:1.00:1.00:1.00:70:44.6:0:0:87:63:33:NM_015471.3(NSL1) c.*6064A>G,NM_015471.3(NSL1) c.*6064A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 212905898 rs2501836 G A 126 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.1546,A/0.8454;PC=0.005;Gene=NSL1/NM_001042549.1/1;CC=c.*6141C>T;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*5852C>T;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*6111C>T;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-5377C>T;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*5852C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A:35:28:0:0:35:1096:126.21:78.28:47.92:1.00:1.00:1.00:60:37.7:0:0:39:109:28:NM_015471.3(NSL1) c.*5852C>T,NM_015471.3(NSL1) c.*5852C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 1 212906034 . t . . NT END=212908611;NT GT ./. 1 212908915 . g . . NT END=212909274;NT GT ./. 1 212908922 rs3006242 T C 171 nt VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.09105,C/0.9089;PC=0.002;Gene=NSL1/NM_001042549.1/1;CC=c.*3117A>G;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*2828A>G;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*3087A>G;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-8401A>G;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*2828A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C:45:16:0:0:45:1493:170.72:40.46:130.27:1.00:1.00:1.00:60:66.2:0:0:98:46:27:NM_015471.3(NSL1) c.*2828A>G,NM_015471.3(NSL1) c.*2828A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 212908929 rs6700465 T C 150 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.3928,C/0.6072;Gene=NSL1/NM_001042549.1/1;CC=c.*3110A>G;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*2821A>G;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*3080A>G;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-8408A>G;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*2821A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:15:0:0:43:1298:150.17:37.32:112.86:1.00:1.00:1.00:60:70.4:0:0:104:42:28:NM_015471.3(NSL1) c.*2821A>G,NM_015471.3(NSL1) c.*2821A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 1 212909234 rs76974842 G A 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9752,A/0.02476;PC=0.035;Gene=NSL1/NM_001042549.1/1;CC=c.*2805C>T;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*2516C>T;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*2775C>T;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-8713C>T;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*2516C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:34:0:0:24,13:750,455:76.01,0.00:57.08,0.00:18.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,7.8:0,0:0,0:38,28:113,123:28,11:NM_015471.3(NSL1) c.*2516C>T,-:0.03,-:NOT_FOUND,- 1 212909400 . a . . NT END=212909644;NT GT ./. 1 212910930 rs7522100 G A 185 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.399,A/0.601;Gene=NSL1/NM_001042549.1/1;CC=c.*1109C>T;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*820C>T;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*1079C>T;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-10409C>T;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*820C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A:51:27:0:0:51:1612:185.42:87.55:97.87:1.00:1.00:1.00:60:33.7:0:0:90:61:32:NM_015471.3(NSL1) c.*820C>T,NM_015471.3(NSL1) c.*820C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 212911366 rs397697842 CT C 127 idl,rn VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.002;Gene=NSL1/NM_001042549.1/1;CC=c.*672delA;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.*383delA;VC=3UTR;Gene=NSL1/NM_001297737.1/0;CC=c.*642delA;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-10846delA;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.*383delA;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:52:39:0:48:13,39:426,1516:0.00,126.87:0.00,75.44:0.00,51.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,16.3:0,9:0,0:129,52:14,89:12,29:-,NM_015471.3(NSL1) c.*370A[13]:-,NOT_FOUND:-,NOT_FOUND 1 212911836 rs15702 T C 326 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.3926,C/0.6074;Gene=NSL1/NM_001042549.1/1;CC=c.*203A>G;VC=3UTR;Gene=NSL1/NM_001297736.1/0;CC=c.637A>G;ProtCh=p.M213V;VC=Missense;Gene=NSL1/NM_001297737.1/0;CC=c.*173A>G;VC=3UTR;Gene=NSL1/NM_001297739.1/0;CC=c.500-11315A>G;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.760A>G;ProtCh=p.M254V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:89:59:0:0:89:2840:326.19:188.80:137.39:1.00:1.00:1.00:60:37.0:0:0:88:62:33:NM_015471.3(NSL1) c.760A>G (p.Met254Val),NM_015471.3(NSL1) c.760A>G (p.Met254Val):0.61,0.61:0.678533,0.678533 1 212912029 . C . . NT END=212912875;NT GT ./. 1 212912108 rs76008099 ATT A 55 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=234;Gene=NSL1/NM_001042549.1/1;CC=c.*11-82_*11-81delAA;VC=Intron;Gene=NSL1/NM_001297736.1/0;CC=c.445-82_445-81delAA;VC=Intron;Gene=NSL1/NM_001297737.1/0;CC=c.500-82_500-81delAA;VC=Intron;Gene=NSL1/NM_001297739.1/0;CC=c.500-11589_500-11588delAA;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.568-82_568-81delAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATT,A:28:6:0:21:11,17:337,670:0.00,55.02:0.00,8.00:0.00,47.02:0.00,1.00:0.00,0.98:0.00,1.00:60,60:8.1,11.9:0,4:0,0:142,89:8,62:8,32:-,NM_015471.3(NSL1) c.568-82_568-81delAA:-,NOT_FOUND:-,NOT_FOUND 1 212912944 . C . . NT END=212955713;NT GT ./. 1 212955769 . C . . NT END=212957704;NT GT ./. 1 212957836 . C . . NT END=212960900;NT GT ./. 1 212960980 . C . . NT END=212964871;NT GT ./. 1 212961143 rs3820679 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.656,C/0.344;Gene=NSL1/NM_001042549.1/1;CC=c.235-164A>G;VC=Intron;Gene=NSL1/NM_001297736.1/0;CC=c.235-164A>G;VC=Intron;Gene=NSL1/NM_001297737.1/0;CC=c.235-164A>G;VC=Intron;Gene=NSL1/NM_001297739.1/0;CC=c.235-164A>G;VC=Intron;Gene=NSL1/NM_015471.3/0;CC=c.235-164A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:191:22.39:0.00:22.39:1.00:0.00:1.00:60:47.6:0:0:56:78:21:NM_015471.3(NSL1) c.235-164A>G,NM_015471.3(NSL1) c.235-164A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 1 212965106 . T . . NT END=212965263;NT GT ./. 1 212965330 . G . . NT END=212968436;NT GT ./. 1 212968470 . G . . NT END=212969858;NT GT ./. 1 212969842 rs533729772 C CT 66 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=436;Gene=TATDN3/NM_001042552.2/0;CC=c.100-4_100-3insT;VC=Intron;Gene=TATDN3/NM_001042553.2/0;CC=c.100-4_100-3insT;VC=Intron;Gene=TATDN3/NM_001146169.1/0;CC=c.100-4_100-3insT;VC=Intron;Gene=TATDN3/NM_001146170.1/0;CC=c.100-4_100-3insT;VC=Intron;Gene=TATDN3/NM_001146171.1/1;CC=c.100-4_100-3insT;VC=Intron;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CT,D:37:34:25:1:1,13,1,21,1:10,444,10,782,30:0.07,0.00,0.07,66.36,1.73:0.09,0.00,0.09,34.12,1.75:-0.02,0.00,-0.02,32.24,-0.02:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:21.0,35.8,19.0,37.7,10.0:0,1,0,4,0:0,0,0,0,0:139,82,132,41,33:12,68,14,102,118:0,41,0,29,0:-,NM_001146171.1(TATDN3) c.100-17_100-16insT:-,NOT_FOUND:-,NOT_FOUND 1 212969933 . G . . NT END=212970453;NT GT ./. 1 212970215 rs6540766 T A 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3986,A/0.6014;Gene=TATDN3/NM_001042552.2/0;CC=c.174-239T>A;VC=Intron;Gene=TATDN3/NM_001042553.2/0;CC=c.174-239T>A;VC=Intron;Gene=TATDN3/NM_001146169.1/0;CC=c.174-239T>A;VC=Intron;Gene=TATDN3/NM_001146170.1/0;CC=c.174-239T>A;VC=Intron;Gene=TATDN3/NM_001146171.1/1;CC=c.174-239T>A;VC=Intron;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:5:0:0:10:293:34.02:16.14:17.88:1.00:1.00:1.00:60:46.2:0:0:122:28:17:NM_001146171.1(TATDN3) c.174-239T>A,NM_001146171.1(TATDN3) c.174-239T>A:0.61,0.61:NOT_FOUND,NOT_FOUND 1 212970375 rs1284800 A G 63 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.02196,G/0.978;Gene=TATDN3/NM_001042552.2/0;CC=c.174-79A>G;VC=Intron;Gene=TATDN3/NM_001042553.2/0;CC=c.174-79A>G;VC=Intron;Gene=TATDN3/NM_001146169.1/0;CC=c.174-79A>G;VC=Intron;Gene=TATDN3/NM_001146170.1/0;CC=c.174-79A>G;VC=Intron;Gene=TATDN3/NM_001146171.1/1;CC=c.174-79A>G;VC=Intron;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase;DM=TATDN3/TatD_DNase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:17:0:0:18:543:62.80:54.89:7.90:1.00:1.00:1.00:60:33.3:0:0:48:103:38:NM_001146171.1(TATDN3) c.174-79A>G,NM_001146171.1(TATDN3) c.174-79A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 212970539 . G . . NT END=212976042;NT GT ./. 1 212976106 . G . . NT END=212977661;NT GT ./. 1 212977772 . G . . NT END=212977937;NT GT ./. 1 212977994 . G . . NT END=212981077;NT GT ./. 1 212981191 . G . . NT END=212985568;NT GT ./. 1 212981484 rs11120032 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.624,A/0.376;PC=0.009;Gene=TATDN3/NM_001042552.2/0;CC=c.600+294G>A;VC=Intron;Gene=TATDN3/NM_001042553.2/0;CC=c.600+294G>A;VC=Intron;Gene=TATDN3/NM_001146169.1/0;CC=c.600+294G>A;VC=Intron;Gene=TATDN3/NM_001146170.1/0;CC=c.537+294G>A;VC=Intron;Gene=TATDN3/NM_001146171.1/1;CC=c.600+294G>A;VC=Intron;DM=TATDN3/TatD_DNase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:51.8:0:0:123:27:17:NM_001146171.1(TATDN3) c.600+294G>A,NM_001146171.1(TATDN3) c.600+294G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 1 212985332 rs11120033 T C 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1482,C/0.8518;PC=0.005;Gene=TATDN3/NM_001042552.2/0;CC=c.601-258T>C;VC=Intron;Gene=TATDN3/NM_001042553.2/0;CC=c.601-261T>C;VC=Intron;Gene=TATDN3/NM_001146169.1/0;CC=c.601-237T>C;VC=Intron;Gene=TATDN3/NM_001146170.1/0;CC=c.538-258T>C;VC=Intron;Gene=TATDN3/NM_001146171.1/1;CC=c.601-237T>C;VC=Intron;DM=TATDN3/TatD_DNase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:195:22.36:22.36:0.00:1.00:1.00:0.00:60:46.8:0:0:57:93:36:NM_001146171.1(TATDN3) c.601-237T>C,NM_001146171.1(TATDN3) c.601-237T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 1 212985466 rs12130945 C T 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6546,T/0.3454;Gene=TATDN3/NM_001042552.2/0;CC=c.601-124C>T;VC=Intron;Gene=TATDN3/NM_001042553.2/0;CC=c.601-127C>T;VC=Intron;Gene=TATDN3/NM_001146169.1/0;CC=c.601-103C>T;VC=Intron;Gene=TATDN3/NM_001146170.1/0;CC=c.538-124C>T;VC=Intron;Gene=TATDN3/NM_001146171.1/1;CC=c.601-103C>T;VC=Intron;DM=TATDN3/TatD_DNase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:12:0:0:12:335:39.12:39.12:0.00:1.00:1.00:0.00:60:43.3:0:0:38:113:28:NM_001146171.1(TATDN3) c.601-103C>T,NM_001146171.1(TATDN3) c.601-103C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 1 212985671 . G . . NT END=212988354;NT GT ./. 1 212985840 rs3006239 A G 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.08686,G/0.9131;Gene=TATDN3/NM_001042552.2/0;CC=c.681+170A>G;VC=Intron;Gene=TATDN3/NM_001042553.2/0;CC=c.678+170A>G;VC=Intron;Gene=TATDN3/NM_001146169.1/0;CC=c.702+170A>G;VC=Intron;Gene=TATDN3/NM_001146170.1/0;CC=c.618+170A>G;VC=Intron;Gene=TATDN3/NM_001146171.1/1;CC=c.702+170A>G;VC=Intron;DM=TATDN3/TatD_DNase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:274:31.22:0.00:31.22:1.00:0.00:1.00:60:35.5:0:0:115:33:18:NM_001146171.1(TATDN3) c.702+170A>G,NM_001146171.1(TATDN3) c.702+170A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 212988499 . C . . NT END=213003583;NT GT ./. 1 213003306 rs33977456 C CA 7 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=3;NP=3;PC=0.015;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:CA:2:5:5:0:2:165:6.86:6.86:0.00:0.46:0.46:0.00:60:215.5:3:0:43:81:27:chr1 g.213003306_213003307insA (intergenic),chr1 g.213003306_213003307insA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 213003372 rs12133194 A T 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.377,T/0.623;PC=0.044 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:190:22.73:22.73:0.00:1.00:1.00:0.00:60:66.1:0:0:86:64:57:chr1 g.213003371A>T (intergenic),chr1 g.213003371A>T (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 1 213003604 . C . . NT END=213009214;NT GT ./. 1 213003874 rs12095846 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5942,T/0.4058;PC=0.001;Gene=SPATA45/NM_001024601.2/1;CC=c.278-271G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:174:20.23:0.00:20.23:1.00:0.00:1.00:60:48.7:0:0:123:27:22:NM_001024601.2(C1orf227) c.278-271G>A,NM_001024601.2(C1orf227) c.278-271G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 1 213009178 rs369495200 CA C 30 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=CA/0.5359,C/0.4641;NP=123;PC=0.006;Gene=SPATA45/NM_001024601.2/1;CC=c.277+36delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:25:25:5:12:11,4,10:369,157,345:0.00,10.23,29.55:0.00,7.98,22.33:0.00,2.25,7.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.89:60,60,60:10.0,24.2,18.1:0,1,1:0,0,0:49,32,16:102,117,127:38,2,9:-,NM_001024601.2(C1orf227) c.277+36delT:-,NOT_FOUND:-,NOT_FOUND 1 213009469 rs10864004 A G 184 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.3395,G/0.6605;Gene=SPATA45/NM_001024601.2/1;CC=c.23T>C;ProtCh=p.I8T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A,G:51:25:0:0:1,50:8,1613:0.00,183.53:0.00,58.15:0.00,125.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:123.0,36.3:0,0:0,0:57,80:93,66:0,40:NM_001024601.2(C1orf227) c.23T>C (p.Ile8Thr),NM_001024601.2(C1orf227) c.23T>C (p.Ile8Thr):0.67,0.67:0.737615,0.737615 1 213009492 . T . . NT END=213031794;NT GT ./. 1 213016442 rs61832057 T TACACACAC 9 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;NP=3;NP=44;NP=6;PC=0.016;Gene=SPATA45/NM_001024601.2/1;CC=c.-39+4479_-39+4480insGTGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,T,TACACACAC:5:5:5:0:1,1,3:13,32,149:0.89,0.00,8.98:-0.03,0.00,6.30:0.92,0.00,2.69:0.00,0.00,0.69:0.00,0.00,0.93:0.00,0.00,0.83:60,60,60:146.0,26.0,56.7:0,0,2:0,0,0:108,8,65:35,120,83:0,0,5:-,NM_001024601.2(C1orf227) c.-39+4479_-39+4480insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 213031448 rs2201601 G C 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6556,C/0.3444;Gene=FLVCR1-AS1/NR_027285.1/0;VC=NonCoding;Gene=FLVCR1-AS1/NR_027286.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:196:22.92:22.92:0.00:1.00:1.00:0.00:60:89.3:0:0:41:110:34:NR_027285.1(FLVCR1-AS1) n.33C>G,NR_027285.1(FLVCR1-AS1) n.33C>G:0.35,0.35:NOT_FOUND,NOT_FOUND 1 213031473 rs2201602 A C 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5553,C/0.4447;PC=0.001;Gene=FLVCR1-AS1/NR_027285.1/0;VC=NonCoding;Gene=FLVCR1-AS1/NR_027286.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,T:10:10:0:0:9,1:288,11:32.68,0.64:32.68,0.64:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:66.1,134.0:0,0:0,0:38,127:113,24:18,0:NR_027285.1(FLVCR1-AS1) n.8T>G,NR_027285.1(FLVCR1-AS1) n.8T>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 213031709 rs2201603 C T 365 nt VT=SNV;PN=G;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.5559,T/0.4441;Gene=FLVCR1/NM_014053.3/1;CC=c.-86C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:116:105:0:0:3,113:27,3133:0.56,365.33:0.45,306.03:0.11,59.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:101.3,43.0:0,0:0,0:97,43:52,102:20,26:NM_014053.3(FLVCR1) c.-86C>T,NM_014053.3(FLVCR1) c.-86C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 1 213031948 rs11120047 G C 942 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=256;DB;DBA=in-clinvar;PAF=G/0.5555,C/0.4445;PC=1.000;Gene=FLVCR1/NM_014053.3/1;CC=c.154G>C;ProtCh=p.A52P;VC=Missense;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:256:161:0:0:254,2:8258,32:942.05,0.00:479.78,0.00:462.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,67.5:2,1:0,0:83,45:60,102:38,23:NM_014053.3(FLVCR1) c.154G>C (p.Ala52Pro),NM_014053.3(FLVCR1) c.154G>C (p.Ala52Pro):0.45,0.45:0.394563,0.394563 1 213032533 . G . . NT END=213037066;NT GT ./. 1 213032568 rs12023052 T A 343 nt VT=SNV;PN=T;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.5789,A/0.4211;Gene=FLVCR1/NM_014053.3/1;CC=c.738+36T>A;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:94:43:0:0:94:2980:342.76:102.66:240.10:1.00:1.00:1.00:60:43.6:0:0:91:57:29:NM_014053.3(FLVCR1) c.738+36T>A,NM_014053.3(FLVCR1) c.738+36T>A:0.43,0.43:0.423651,0.423651 1 213032826 rs3768551 G A 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5557,A/0.4443;PC=0.001;Gene=FLVCR1/NM_014053.3/1;CC=c.738+294G>A;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:1:0:0:7:223:25.64:3.98:21.66:1.00:1.00:1.00:60:51.0:0:0:97:46:42:NM_014053.3(FLVCR1) c.738+294G>A,NM_014053.3(FLVCR1) c.738+294G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 1 213036794 rs1874418 T G 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5523,G/0.4477;PC=0.001;Gene=FLVCR1/NM_014053.3/1;CC=c.739-273T>G;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:161:18.48:18.48:0.00:1.00:1.00:0.00:60:38.6:0:0:53:97:32:NM_014053.3(FLVCR1) c.739-273T>G,NM_014053.3(FLVCR1) c.739-273T>G:0.45,0.45:NOT_FOUND,NOT_FOUND 1 213036924 rs386369566 C CAAAA 28 idl,nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=8;PC=0.003;Gene=FLVCR1/NM_014053.3/1;CC=c.739-129_739-128insAAAA;VC=Intron;DM=FLVCR1/MFS_1;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,CAAAA:9:14:13:0:1,8:35,419:0.00,27.60:0.00,27.60:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:32.0,57.1:0,5:0,0:130,45:15,106:0,24:-,NM_014053.3(FLVCR1) c.739-143_739-142insAAAA:-,NOT_FOUND:-,NOT_FOUND 1 213037212 . G . . NT END=213046019;NT GT ./. 1 213046161 . G . . NT END=213056712;NT GT ./. 1 213056493 rs4951649 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2702,T/0.7298;Gene=FLVCR1/NM_014053.3/1;CC=c.1025-220C>T;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:106:12.45:12.45:0.00:1.00:1.00:0.00:60:55.5:0:0:20:131:8:NM_014053.3(FLVCR1) c.1025-220C>T,NM_014053.3(FLVCR1) c.1025-220C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 213056781 . G . . NT END=213058634;NT GT ./. 1 213056819 rs2644547 A G 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.003794,G/0.9962;NP=3322;Gene=FLVCR1/NM_014053.3/1;CC=c.1092+39A>G;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:8:0:0:17:570:65.08:19.85:45.24:1.00:1.00:1.00:60:53.0:0:0:99:52:28:NM_014053.3(FLVCR1) c.1092+39A>G,NM_014053.3(FLVCR1) c.1092+39A>G:1,1:0.995767,0.995767 1 213056892 rs12125982 A G 19 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5749,G/0.4251;PC=0.024;Gene=FLVCR1/NM_014053.3/1;CC=c.1092+112A>G;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:168:19.18:1.94:17.25:1.00:1.00:1.00:60:86.2:0:0:116:35:15:NM_014053.3(FLVCR1) c.1092+112A>G,NM_014053.3(FLVCR1) c.1092+112A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 213058739 . G . . NT END=213061232;NT GT ./. 1 213058852 rs7536716 T A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5541,A/0.4459;PC=0.003;Gene=FLVCR1/NM_014053.3/1;CC=c.1196+114T>A;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:A,T:11:0:0:0:10,1:300,12:33.37,0.00:0.00,0.00:33.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:56.5,101.0:0,0:0,0:108,15:42,136:21,0:NM_014053.3(FLVCR1) c.1196+114T>A,NM_014053.3(FLVCR1) c.1196+114T>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 213058871 rs7522693 C G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5543,G/0.4457;Gene=FLVCR1/NM_014053.3/1;CC=c.1196+133C>G;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:0:0:0:8:211:24.85:0.00:24.85:1.00:0.00:1.00:60:71.8:0:0:118:32:14:NM_014053.3(FLVCR1) c.1196+133C>G,NM_014053.3(FLVCR1) c.1196+133C>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 213058911 rs7544562 G T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5529,T/0.4471;NP=48;PC=0.001;Gene=FLVCR1/NM_014053.3/1;CC=c.1196+173G>T;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:87.8:0:0:64:70:29:NM_014053.3(FLVCR1) c.1196+173G>T,NM_014053.3(FLVCR1) c.1196+173G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 213061344 . G . . NT END=213061830;NT GT ./. 1 213061937 . G . . NT END=213062487;NT GT ./. 1 213062017 rs112024320 T TTTG 33 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.254,TTTG/.,TTTGTTGTTGTTGTTGTTGTT/0.7426,TTTGTTGTTGTTGTTGTTGTTGTTG/0.003395;NP=2251;PC=0.001;Gene=FLVCR1/NM_014053.3/1;CC=c.1413+98_1413+99insGTT;VC=Intron;DM=FLVCR1/MFS_1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTG:21:4:11:0:10,11:324,337:0.00,32.63:0.00,3.12:0.00,29.51:0.00,1.00:0.00,0.95:0.00,1.00:60,60:7.8,28.3:0,0:0,0:138,78:12,72:8,15:-,NM_014053.3(FLVCR1) c.1413+81_1413+82insTTG:-,NOT_FOUND:-,NOT_FOUND 1 213062067 rs10864022 T C 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5555,C/0.4445;PC=0.005;Gene=FLVCR1/NM_014053.3/1;CC=c.1413+131T>C;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:358:41.04:0.00:41.04:1.00:0.00:1.00:60:55.8:0:0:116:32:20:NM_014053.3(FLVCR1) c.1413+131T>C,NM_014053.3(FLVCR1) c.1413+131T>C:0.45,0.45:NOT_FOUND,NOT_FOUND 1 213062158 rs10779595 T C 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5549,C/0.4451;PC=0.649;Gene=FLVCR1/NM_014053.3/1;CC=c.1413+222T>C;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:4:0:0:9:306:34.89:15.41:19.48:1.00:1.00:1.00:60:74.6:0:0:55:96:50:NM_014053.3(FLVCR1) c.1413+222T>C,NM_014053.3(FLVCR1) c.1413+222T>C:0.46,0.46:NOT_FOUND,NOT_FOUND 1 213062180 rs11120060 G A 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5549,A/0.4451;Gene=FLVCR1/NM_014053.3/1;CC=c.1413+244G>A;VC=Intron;DM=FLVCR1/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:5:0:0:8:259:29.71:18.58:11.13:1.00:1.00:1.00:60:70.4:0:0:53:97:27:NM_014053.3(FLVCR1) c.1413+244G>A,NM_014053.3(FLVCR1) c.1413+244G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 1 213062600 . G . . NT END=213068327;NT GT ./. 1 213068192 rs2792558 T C 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.06909,C/0.9309;PC=0.002;Gene=FLVCR1/NM_014053.3/1;CC=c.1526-136T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:254:29.19:29.19:0.00:1.00:1.00:0.00:60:71.0:0:0:44:107:34:NM_014053.3(FLVCR1) c.1526-136T>C,NM_014053.3(FLVCR1) c.1526-136T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 213068233 rs12408694 C T 60 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3365,T/0.6635;Gene=FLVCR1/NM_014053.3/1;CC=c.1526-95C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:16:0:0:17:518:59.88:46.76:13.12:1.00:1.00:1.00:60:47.9:0:0:33:117:15:NM_014053.3(FLVCR1) c.1526-95C>T,NM_014053.3(FLVCR1) c.1526-95C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 1 213068396 . G . . NT END=213068557;NT GT ./. 1 213068595 rs3207090 C T 100 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=in-clinvar;PAF=C/0.6206,T/0.3794;Gene=FLVCR1/NM_014053.3/1;CC=c.1631C>T;ProtCh=p.T544M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:18:0:0:27:868:99.61:51.79:47.82:1.00:1.00:1.00:60:38.6:0:0:66:75:38:NM_014053.3(FLVCR1) c.1631C>T (p.Thr544Met),NM_014053.3(FLVCR1) c.1631C>T (p.Thr544Met):0.39,0.39:0.384899,0.384899 1 213068633 . A . . NT END=213124884;NT GT ./. 1 213124871 rs3123305 G A 171 nt VT=SNV;PN=C;NN=C;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.6959,A/0.3041;PC=0.111;Gene=VASH2/NM_001136474.2/1;CC=c.-149-60G>A;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.-37+789G>A;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.-14G>A;VC=5UTR;Gene=VASH2/NM_024749.4/0;CC=c.-14G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:137:112:0:0:62,74,1:1818,2187,21:170.76,0.00,0.33:117.21,0.00,0.39:53.55,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.6,7.6,61.0:0,0,0:0,0,0:47,59,61:99,86,90:28,34,0:NM_024749.3(VASH2) c.-14G>A,-:0.33,-:0.300275,- 1 213125161 . G . . NT END=213134507;NT GT ./. 1 213134407 rs71634696 G T 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9667,T/0.03335;PC=0.184;Gene=VASH2/NM_001136474.2/1;CC=c.82-101G>T;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.-36-101G>T;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.277-101G>T;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.277-101G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:24:0:0:16,9:540,265:0.00,23.67:0.00,19.05:0.00,4.62:0.00,1.00:0.00,1.00:0.00,0.94:60,60:13.1,46.2:1,0:0,0:42,56:108,95:35,18:-,NM_024749.3(VASH2) c.277-101G>T:-,0.04:-,NOT_FOUND 1 213134703 . G . . NT END=213139063;NT GT ./. 1 213139121 . G . . NT END=213139612;NT GT ./. 1 213139688 . G . . NT END=213140455;NT GT ./. 1 213139748 rs3738805 T G 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3908,G/0.6092;Gene=VASH2/NM_001136474.2/1;CC=c.302+61T>G;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.185+61T>G;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.497+61T>G;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.365+5152T>G;VC=Intron;DM=VASH2/Vasohibin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:5:0:0:10,13:330,409:30.94,0.00:8.54,0.00:22.40,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:46.4,13.2:0,0:0,0:111,105:40,46:31,34:NM_024749.3(VASH2) c.365+5152T>G,-:0.6,-:0.600088,- 1 213140362 rs10779597 G A 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;PC=0.006;Gene=VASH2/NM_001136474.2/1;CC=c.302+675G>A;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.185+675G>A;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.497+675G>A;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.366-5560G>A;VC=Intron;DM=VASH2/Vasohibin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:48:0:0:25,24:804,793:77.59,0.00:71.66,0.00:5.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.3,15.0:0,0:0,0:57,58:92,93:33,34:NM_024749.3(VASH2) c.366-5560G>A,-:0.36,-:NOT_FOUND,- 1 213140398 rs10779598 A C 118 nt VT=SNV;PN=A;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.5791,C/0.4209;PC=0.205;Gene=VASH2/NM_001136474.2/1;CC=c.302+711A>C;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.185+711A>C;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.497+711A>C;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.366-5524A>C;VC=Intron;DM=VASH2/Vasohibin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:72:67:0:0:33,39:1070,1208:0.00,117.72:0.00,91.99:0.00,25.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,60.3:0,0:0,0:60,38:89,104:39,22:-,NM_024749.3(VASH2) c.366-5524A>C:-,0.44:-,NOT_FOUND 1 213140669 rs6689669 C T 419 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.3628,T/0.6372;PC=0.014;Gene=VASH2/NM_001136474.2/1;CC=c.302+982C>T;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.185+982C>T;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.497+982C>T;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.366-5253C>T;VC=Intron;DM=VASH2/Vasohibin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:113:69:0:0:113:3653:419.00:192.40:226.61:1.00:1.00:1.00:60:36.8:0:0:81:69:41:NM_024749.3(VASH2) c.366-5253C>T,NM_024749.3(VASH2) c.366-5253C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 213140789 . a . . NT END=213141532;NT GT ./. 1 213142536 rs397863606 CT C 51 idl,rn VT=DEL;SST=Single;DP=87;DB;DBA=NA;PAF=CT/0.5771,C/0.4229;DB;DBA=NA;PAF=CT/0.5771,C/0.4229;NP=67;PC=0.002;Gene=VASH2/NM_001136474.2/1;CC=c.302+2865delT;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.185+2865delT;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.497+2865delT;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.366-3370delT;VC=Intron;DM=VASH2/Vasohibin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:77:29:4:27:56,2,19:1715,132,867:0.00,3.82,51.04:0.00,2.03,12.95:0.00,1.79,38.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.3,17.0,27.6:0,2,8:0,0,0:124,31,90:16,120,60:19,8,24:-,NM_024749.3(VASH2) c.366-3385delT:-,NOT_FOUND:-,NOT_FOUND 1 213142571 . g . . NT END=213145921;NT GT ./. 1 213142595 rs12731171 C T 68 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6496,T/0.3504;Gene=VASH2/NM_001136474.2/1;CC=c.302+2908C>T;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.185+2908C>T;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.497+2908C>T;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.366-3327C>T;VC=Intron;DM=VASH2/Vasohibin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:4:0:0:22,23:663,706:0.00,68.01:0.00,3.82:0.00,64.20:0.00,1.00:0.00,0.94:0.00,1.00:60,60:12.8,43.4:0,0:0,0:92,96:57,51:28,39:-,NM_024749.3(VASH2) c.366-3327C>T:-,0.36:-,NOT_FOUND 1 213142704 rs58146688 A AT 8 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6659,AT/0.3341;DB;DBA=NA;PAF=A/0.6659,AT/0.3341;NP=479;PC=0.006;Gene=VASH2/NM_001136474.2/1;CC=c.302+3024_302+3025insT;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.185+3024_185+3025insT;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.497+3024_497+3025insT;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.366-3211_366-3210insT;VC=Intron;DM=VASH2/Vasohibin;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,AT:14:1:3:0:11,3:362,94:0.00,7.67:0.00,-0.05:0.00,7.73:0.00,0.56:0.00,0.48:0.00,0.56:60,60:14.3,0.0:0,0:0,0:133,70:15,81:12,31:-,NM_024749.3(VASH2) c.366-3218_366-3217insT:-,0.36:-,NOT_FOUND 1 213146304 . G . . NT END=213146765;NT GT ./. 1 213146944 rs7511930 A G 537 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=A/0.3241,G/0.6759;PC=0.034;Gene=VASH2/NM_001136474.2/1;CC=c.685-353A>G;VC=Intron;Gene=VASH2/NM_001136475.2/0;CC=c.568-353A>G;VC=Intron;Gene=VASH2/NM_001301056.1/0;CC=c.880-353A>G;VC=Intron;Gene=VASH2/NM_024749.4/0;CC=c.748-353A>G;VC=Intron;DM=VASH2/Vasohibin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:154:105:0:0:1,1,152:35,32,4672:0.00,1.47,536.53:0.00,1.47,295.59:0.00,-0.00,240.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:0.0,32.0,40.6:0,0,0:0,0,0:68,146,69:83,4,80:0,0,35:NM_024749.3(VASH2) c.748-353A>G,NM_024749.3(VASH2) c.748-353A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 213147413 . G . . NT END=213161853;NT GT ./. 1 213161927 . C . . NT END=213168382;NT GT ./. 1 213168535 . C . . NT END=213170496;NT GT ./. 1 213170661 . C . . NT END=213173667;NT GT ./. 1 213173457 rs3738806 C T 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5861,T/0.4139;Gene=ANGEL2/NM_001300755.1/0;CC=c.941+211G>A;VC=Intron;Gene=ANGEL2/NM_001300753.1/1;CC=c.941+211G>A;VC=Intron;Gene=ANGEL2/NM_001300757.1/0;CC=c.812+211G>A;VC=Intron;Gene=ANGEL2/NM_001300758.1/0;CC=c.812+211G>A;VC=Intron;Gene=ANGEL2/NM_144567.4/0;CC=c.1319+211G>A;VC=Intron;Gene=ANGEL2/NR_125333.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:152:17.57:17.57:0.00:1.00:1.00:0.00:60:39.2:0:0:38:113:24:NM_144567.3(ANGEL2) c.1319+211G>A,NM_144567.3(ANGEL2) c.1319+211G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 1 213173726 . C . . NT END=213174127;NT GT ./. 1 213174255 . C . . NT END=213178374;NT GT ./. 1 213178340 rs11120076 G A 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.5861,A/0.4139;Gene=ANGEL2/NM_001300755.1/0;CC=c.756+35C>T;VC=Intron;Gene=ANGEL2/NM_001300753.1/1;CC=c.756+35C>T;VC=Intron;Gene=ANGEL2/NM_001300757.1/0;CC=c.627+35C>T;VC=Intron;Gene=ANGEL2/NM_001300758.1/0;CC=c.627+35C>T;VC=Intron;Gene=ANGEL2/NM_144567.4/0;CC=c.1134+35C>T;VC=Intron;Gene=ANGEL2/NR_125333.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A:30:28:0:0:30:968:111.10:91.77:19.33:1.00:1.00:1.00:60:37.0:0:0:43:106:28:NM_144567.3(ANGEL2) c.1134+35C>T,NM_144567.3(ANGEL2) c.1134+35C>T:0.45,0.45:0.456723,0.456723 1 213178797 . C . . NT END=213180470;NT GT ./. 1 213180441 rs71147054 G GA 37 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=5;NP=81;PC=0.622;Gene=ANGEL2/NM_001300755.1/0;CC=c.334+29_334+30insT;VC=Intron;Gene=ANGEL2/NM_001300753.1/1;CC=c.334+29_334+30insT;VC=Intron;Gene=ANGEL2/NM_001300757.1/0;CC=c.205+29_205+30insT;VC=Intron;Gene=ANGEL2/NM_001300758.1/0;CC=c.205+29_205+30insT;VC=Intron;Gene=ANGEL2/NM_144567.4/0;CC=c.712+29_712+30insT;VC=Intron;Gene=ANGEL2/NR_125333.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA:23:25:18:0:2,9,12:62,287,570:4.56,0.00,36.84:1.16,0.00,32.47:3.40,0.00,4.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:48.5,21.8,48.1:0,0,6:0,0,0:35,77,41:94,74,101:30,57,37:-,NM_144567.3(ANGEL2) c.712+29_712+30insT:-,NOT_FOUND:-,NOT_FOUND 1 213180541 . C . . NT END=213181551;NT GT ./. 1 213181381 rs3124666 G T 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.003594,T/0.9964;PC=0.039;Gene=ANGEL2/NM_001300755.1/0;CC=c.264+171C>A;VC=Intron;Gene=ANGEL2/NM_001300753.1/1;CC=c.264+171C>A;VC=Intron;Gene=ANGEL2/NM_001300757.1/0;CC=c.135+171C>A;VC=Intron;Gene=ANGEL2/NM_001300758.1/0;CC=c.135+171C>A;VC=Intron;Gene=ANGEL2/NM_144567.4/0;CC=c.642+171C>A;VC=Intron;Gene=ANGEL2/NR_125333.1/0;VC=NonCoding;DM=ANGEL2/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:17:0:0:18:567:65.28:61.60:3.68:1.00:1.00:1.00:60:43.2:0:0:52:98:40:NM_144567.3(ANGEL2) c.642+171C>A,NM_144567.3(ANGEL2) c.642+171C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 213181809 . C . . NT END=213184549;NT GT ./. 1 213184801 . C . . NT END=213186434;NT GT ./. 1 213186761 . C . . NT END=213188490;NT GT ./. 1 213188852 . C . . NT END=213188954;NT GT ./. 1 213189014 . C . . NT END=213224746;NT GT ./. 1 213224719 rs4951476 T C 158 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.2782,C/0.7218;PC=0.797;Gene=RPS6KC1/NM_001136138.2/0;CC=c.-28T>C;VC=5UTR;Gene=RPS6KC1/NM_001287218.1/0;CC=c.-649T>C;VC=5UTR;Gene=RPS6KC1/NM_001287219.1/0;CC=c.-688T>C;VC=5UTR;Gene=RPS6KC1/NM_001287220.1/0;CC=c.-1242T>C;VC=5UTR;Gene=RPS6KC1/NM_001287221.1/0;CC=c.-450T>C;VC=5UTR;Gene=RPS6KC1/NM_012424.4/1;CC=c.-28T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C:42:36:0:1:42:1382:158.09:104.23:53.86:1.00:1.00:1.00:60:36.4:0:0:39:105:25:NM_012424.3(RPS6KC1) c.-28T>C,NM_012424.3(RPS6KC1) c.-28T>C:0.71,0.71:0.750936,0.750936 1 213224853 . T . . NT END=213244347;NT GT ./. 1 213244385 . T . . NT END=213246211;NT GT ./. 1 213246329 . G . . NT END=213251037;NT GT ./. 1 213251160 . T . . NT END=213277795;NT GT ./. 1 213277913 . T . . NT END=213290658;NT GT ./. 1 213278085 . C CT 8 rn VT=INS;SST=Single;DP=6;NP=1;NP=1;PC=0.050;Gene=RPS6KC1/NM_001136138.2/0;CC=c.342+189_342+190insT;VC=Intron;Gene=RPS6KC1/NM_001287218.1/0;CC=c.-244+189_-244+190insT;VC=Intron;Gene=RPS6KC1/NM_001287219.1/0;CC=c.-166+189_-166+190insT;VC=Intron;Gene=RPS6KC1/NM_001287220.1/0;CC=c.-837+189_-837+190insT;VC=Intron;Gene=RPS6KC1/NM_001287221.1/0;CC=c.-166+189_-166+190insT;VC=Intron;Gene=RPS6KC1/NM_012424.4/1;CC=c.378+189_378+190insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,CT:6:0:3:0:3,3:80,80:0.00,7.63:0.00,0.00:0.00,7.63:0.00,0.73:0.00,0.00:0.00,0.73:60,60:34.3,30.3:0,0:0,0:135,114:15,37:1,10:-,NM_012424.3(RPS6KC1) c.378+174_378+175insT:-,NOT_FOUND:-,NOT_FOUND 1 213290754 . T . . NT END=213302869;NT GT ./. 1 213303234 . T . . NT END=213341200;NT GT ./. 1 213325912 rs61834122 C G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=579;Gene=RPS6KC1/NM_001136138.2/0;CC=c.800-15289C>G;VC=Intron;Gene=RPS6KC1/NM_001287218.1/0;CC=c.293-15289C>G;VC=Intron;Gene=RPS6KC1/NM_001287219.1/0;CC=c.293-15289C>G;VC=Intron;Gene=RPS6KC1/NM_001287220.1/0;CC=c.-379-15289C>G;VC=Intron;Gene=RPS6KC1/NM_001287221.1/0;CC=c.293-15289C>G;VC=Intron;Gene=RPS6KC1/NM_012424.4/1;CC=c.836-15289C>G;VC=Intron;DM=RPS6KC1/PX;DM=RPS6KC1/MIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:127:14.61:5.47:9.14:1.00:1.00:1.00:51:45.5:0:0:120:31:9:NM_012424.3(RPS6KC1) c.836-15289C>G,NM_012424.3(RPS6KC1) c.836-15289C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 213341318 . T . . NT END=213349742;NT GT ./. 1 213349836 . G . . NT END=213378573;NT GT ./. 1 213378733 . G . . NT END=213403839;NT GT ./. 1 213378760 rs2647387 A G 116 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.279,G/0.721;PC=0.021;Gene=RPS6KC1/NM_001136138.2/0;CC=c.1009-25080A>G;VC=Intron;Gene=RPS6KC1/NM_001287218.1/0;CC=c.409-25080A>G;VC=Intron;Gene=RPS6KC1/NM_001287219.1/0;CC=c.409-25080A>G;VC=Intron;Gene=RPS6KC1/NM_001287220.1/0;CC=c.-171+28925A>G;VC=Intron;Gene=RPS6KC1/NM_001287221.1/0;CC=c.502-25080A>G;VC=Intron;Gene=RPS6KC1/NM_012424.4/1;CC=c.1045-25080A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:6:0:0:31:1011:115.85:13.92:101.93:1.00:1.00:1.00:60:36.4:0:0:104:47:25:NM_012424.3(RPS6KC1) c.1045-25080A>G,NM_012424.3(RPS6KC1) c.1045-25080A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 213403889 . T . . NT END=213405465;NT GT ./. 1 213405414 rs398053791 GGCAACTGAGGAT G 169 nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=GGCAACTGAGGAT/0.2827,G/0.7173;DB;DBA=NA;PAF=GGCAACTGAGGAT/0.2827,G/0.7173;NP=2488;PC=1.000;Gene=RPS6KC1/NM_001136138.2/0;CC=c.1057-39_1057-28delGCAACTGAGGAT;VC=Intron;Gene=RPS6KC1/NM_001287218.1/0;CC=c.457-39_457-28delGCAACTGAGGAT;VC=Intron;Gene=RPS6KC1/NM_001287219.1/0;CC=c.457-39_457-28delGCAACTGAGGAT;VC=Intron;Gene=RPS6KC1/NM_001287220.1/0;CC=c.-170-8618_-170-8607delGCAACTGAGGAT;VC=Intron;Gene=RPS6KC1/NM_001287221.1/0;CC=c.550-39_550-28delGCAACTGAGGAT;VC=Intron;Gene=RPS6KC1/NM_012424.4/1;CC=c.1093-39_1093-28delGCAACTGAGGAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:GGCAACTGAGGAT,G:51:40:0:50:2,49:58,1492:0.00,168.82:0.00,109.50:0.00,59.32:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,8.0:0,0:0,0:146,47:5,97:2,22:NM_012424.3(RPS6KC1) c.1093-51_1093-40delGCAACTGAGGAT,NM_012424.3(RPS6KC1) c.1093-51_1093-40delGCAACTGAGGAT:0.7,0.7:0.735191,0.735191 1 213405600 . T . . NT END=213414044;NT GT ./. 1 213415642 . T . . NT END=213415911;NT GT ./. 1 213416003 . T . . NT END=213434900;NT GT ./. 1 213434985 . T . . NT END=213436063;NT GT ./. 1 213436161 . T . . NT END=213445866;NT GT ./. 1 213445979 . C . . NT END=214169878;NT GT ./. 1 213570931 rs71690648 TACAC T 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TACAC/0.6913,T/0.3087;NP=118;PC=0.004;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:4:4:127:14.61:7.50:7.10:1.00:1.00:1.00:60:2.5:0:0:20:101:3:chr1 g.213570932_213570935delACAC (intergenic),chr1 g.213570932_213570935delACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 213781031 rs59502280 T TACAC 12 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=14;NP=87;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:T,TACAC:10:9:5:0:6,4:150,161:0.00,11.67:0.00,3.97:0.00,7.70:0.00,0.82:0.00,0.97:0.00,0.94:60,60:48.5,16.8:0,1:0,0:107,36:43,91:37,15:-,chr1 g.213781031_213781032insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 214171604 . A . . NT END=214178507;NT GT ./. 1 214178616 . G . . NT END=214184863;NT GT ./. 1 214185059 . G . . NT END=214208988;NT GT ./. 1 214209178 . A . . NT END=214454597;NT GT ./. 1 214418418 rs10735512 G A 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4631,A/0.5369 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:0:6:209:23.76:7.95:15.81:1.00:1.00:1.00:60:36.8:0:0:80:55:38:chr1 g.214418417G>A (intergenic),chr1 g.214418417G>A (intergenic):0.57,0.57:NOT_FOUND,NOT_FOUND 1 214454471 rs71515198 G A 76 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6254,A/0.3746 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:A,C:24:24:0:0:23,1:657,13:76.12,0.52:74.19,0.52:1.93,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:55.1,203.0:0,0:0,0:27,51:124,100:15,0:NM_020197.2(SMYD2) c.-33-u94G>A,NM_020197.2(SMYD2) c.-33-u94G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 1 214454771 . G . . NT END=214478529;NT GT ./. 1 214454892 . T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;PC=0.002;Gene=SMYD2/NM_020197.2/1;CC=c.173+122T>G;VC=Intron;DM=SMYD2/SET;DM=SMYD2/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G,T:42:4:0:0:1,10,31:13,126,765:0.05,7.53,0.00:0.36,1.30,0.00:-0.31,6.23,0.00:0.00,1.00,0.00:0.00,0.67,0.00:0.00,1.00,0.00:60,60,60:51.0,72.1,46.2:0,0,0:0,0,0:146,60,101:5,82,50:0,35,39:NM_020197.2(SMYD2) c.173+122T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 214478459 rs6540819 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4239,A/0.5761;Gene=SMYD2/NM_020197.2/1;CC=c.174-71G>A;VC=Intron;DM=SMYD2/SET;DM=SMYD2/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:26:0:0:11,18:346,569:31.50,0.00:26.69,0.00:4.82,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:33.5,10.6:0,0:0,0:31,37:120,114:17,27:NM_020197.2(SMYD2) c.174-71G>A,-:0.54,-:NOT_FOUND,- 1 214478594 . G . . NT END=214488104;NT GT ./. 1 214488216 . G . . NT END=214491421;NT GT ./. 1 214491483 . G . . NT END=214492201;NT GT ./. 1 214491961 rs12124666 C T 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1693,T/0.8307;Gene=SMYD2/NM_020197.2/1;CC=c.410-241C>T;VC=Intron;DM=SMYD2/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:203:23.58:23.58:0.00:1.00:1.00:0.00:60:46.1:0:0:44:107:11:NM_020197.2(SMYD2) c.410-241C>T,NM_020197.2(SMYD2) c.410-241C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 1 214492091 . G GT 10 rn VT=INS;SST=Single;DP=27;NP=2;Gene=SMYD2/NM_020197.2/1;CC=c.410-99dupT;VC=Intron;DM=SMYD2/SET;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:G,T,GT,D:26:24:4:2:20,1,4,1:632,12,130,65:0.00,0.09,10.20,1.92:0.00,-0.29,6.00,1.96:0.00,0.38,4.20,-0.04:0.00,0.00,0.66,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.71,0.00:60,60,60,60:45.5,12.0,58.0,64.0:0,0,0,1:0,0,0,0:45,7,23,42:103,144,126,109:23,0,11,29:-,NM_020197.2(SMYD2) c.410-111_410-110insT:-,NOT_FOUND:-,NOT_FOUND 1 214492106 rs34932055 C A 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6837,A/0.3163;Gene=SMYD2/NM_020197.2/1;CC=c.410-96C>A;VC=Intron;DM=SMYD2/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:27:23:0:0:10,16,1:301,387,9:27.36,0.00,-0.02:12.75,0.00,0.01:14.62,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:60,60,60:43.7,31.6,139.0:0,0,0:0,0,0:37,45,52:113,101,99:11,26,0:NM_020197.2(SMYD2) c.410-96C>A,-:0.32,-:NOT_FOUND,- 1 214492286 rs1134647 G A 245 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.1693,A/0.8307;PC=1.000;Gene=SMYD2/NM_020197.2/1;CC=c.494G>A;ProtCh=p.G165E;VC=Missense;DM=SMYD2/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:A,G:67:47:0:0:66,1:2155,10:245.20,0.00:127.15,0.00:118.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,95.0:0,0:0,0:62,11:67,140:34,0:NM_020197.2(SMYD2) c.494G>A (p.Gly165Glu),NM_020197.2(SMYD2) c.494G>A (p.Gly165Glu):0.82,0.82:0.938336,0.938336 1 214492327 . G . . NT END=214497983;NT GT ./. 1 214498052 . G . . NT END=214500964;NT GT ./. 1 214501068 . G . . NT END=214503510;NT GT ./. 1 214501190 rs3754136 C A 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6861,A/0.3139;Gene=SMYD2/NM_020197.2/1;CC=c.705+123C>A;VC=Intron;DM=SMYD2/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:0:0:0:16,11:529,378:52.61,0.00:0.00,0.00:52.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.8,2.6:0,0:0,0:87,75:64,74:20,46:NM_020197.2(SMYD2) c.705+123C>A,-:0.31,-:NOT_FOUND,- 1 214503489 rs2291830 T G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.4381,A/.,G/0.5619;Gene=SMYD2/NM_020197.2/1;CC=c.706-22T>G;VC=Intron;DM=SMYD2/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:18:0:0:12,9:393,313:38.80,0.00:24.33,0.00:14.47,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:40.5,8.4:0,0:0,0:37,59:113,92:20,24:NM_020197.2(SMYD2) c.706-22T>G,-:0.55,-:0.556205,- 1 214503622 . G . . NT END=214504292;NT GT ./. 1 214504414 . A . . NT END=214505360;NT GT ./. 1 214504604 rs2270704 T C 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.1869,C/0.8131;Gene=SMYD2/NM_020197.2/1;CC=c.937+191T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:24:0:0:0:16,1,7:537,10,222:55.17,0.19,0.00:0.00,0.00,0.00:55.17,0.19,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,61.0,15.0:0,0,0:0,0,0:104,80,68:46,71,81:25,0,25:NM_020197.2(SMYD2) c.937+191T>C,-:0.81,-:NOT_FOUND,- 1 214505536 . G . . NT END=214507542;NT GT ./. 1 214505596 rs1874804 C T 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.6907,T/0.3093;Gene=SMYD2/NM_020197.2/1;CC=c.1112+61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:47:14:0:0:23,1,23:705,13,747:0.00,0.13,71.81:0.00,0.31,11.66:0.00,-0.18,60.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.5,88.0,40.3:0,0,0:0,0,0:111,149,94:40,2,57:19,0,31:-,NM_020197.2(SMYD2) c.1112+61C>T:-,0.31:-,NOT_FOUND 1 214505716 rs6419474 T C 52 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.04233,C/0.9577;Gene=SMYD2/NM_020197.2/1;CC=c.1112+181T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:447:51.79:0.00:51.79:1.00:0.00:1.00:60:49.3:0:0:92:58:42:NM_020197.2(SMYD2) c.1112+181T>C,NM_020197.2(SMYD2) c.1112+181T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 214505752 rs870117 T C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6851,C/0.3149;Gene=SMYD2/NM_020197.2/1;CC=c.1112+217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,T:11:0:0:0:5,6:147,190:13.77,0.00:0.00,0.00:13.77,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:74.6,45.0:0,0:0,0:108,53:43,98:30,25:NM_020197.2(SMYD2) c.1112+217T>C,-:0.31,-:NOT_FOUND,- 1 214507580 rs34259050 A G 89 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.9892,G/0.01078,T/.;PC=1.000;Gene=SMYD2/NM_020197.2/1;CC=c.1150A>G;ProtCh=p.M384V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:46:0:0:31,31:1018,929:0.00,88.88:0.00,47.36:0.00,41.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,41.3:0,0:0,0:76,46:74,102:39,26:-,NM_020197.2(SMYD2) c.1150A>G (p.Met384Val):-,0.01:-,0.017684 1 214507652 . G . . NT END=214510046;NT GT ./. 1 214509830 rs11580360 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8672,A/0.1328;Gene=SMYD2/NM_020197.2/1;CC=c.1222-217G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:10:10:0:0:5,5:160,147:15.37,0.00:15.37,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:40.4,34.4:0,0:0,0:25,57:126,93:3,34:NM_020197.2(SMYD2) c.1222-217G>A,-:0.15,-:NOT_FOUND,- 1 214510128 . A . . NT END=214531264;NT GT ./. 1 214531078 rs397840516 GA G 11 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=399;Gene=PTPN14/NM_005401.4/1;CC=c.*186delT;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:GA,G:10:10:0:4:6,4:192,125:0.00,11.49:0.00,11.49:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:5.0,0.0:0,0:0,0:57,25:91,125:32,11:-,NM_005401.4(PTPN14) c.*180T[6]:-,NOT_FOUND:-,NOT_FOUND 1 214531394 . C . . NT END=214537853;NT GT ./. 1 214538019 . C . . NT END=214542798;NT GT ./. 1 214538109 rs57429060 A AGTGTGT 12 idl,rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=2;NP=34;PC=0.012;Gene=PTPN14/NM_005401.4/1;CC=c.3272-92_3272-91insACACAC;VC=Intron;DM=PTPN14/Y_phosphatase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,T,AGTGTGT:29:14:9:0:22,2,5:637,49,276:0.00,2.89,12.33:0.00,-0.27,0.77:0.00,3.17,11.56:0.00,0.00,0.79:0.00,0.00,0.83:0.00,0.00,0.96:60,60,60:15.9,89.0,15.6:0,0,4:0,0,0:119,98,52:25,41,99:16,0,17:-,NM_005401.4(PTPN14) c.3272-92_3272-91insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 214538286 rs3002299 A T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2161,T/0.7839;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.3272-268T>A;VC=Intron;DM=PTPN14/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:58.5:0:0:125:25:10:NM_005401.4(PTPN14) c.3272-268T>A,NM_005401.4(PTPN14) c.3272-268T>A:0.76,0.76:NOT_FOUND,NOT_FOUND 1 214542668 rs3002311 T C 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2159,C/0.7841;Gene=PTPN14/NM_005401.4/1;CC=c.3271+132A>G;VC=Intron;DM=PTPN14/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:477:54.38:54.38:0.00:1.00:1.00:0.00:60:38.1:0:0:62:86:27:NM_005401.4(PTPN14) c.3271+132A>G,NM_005401.4(PTPN14) c.3271+132A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 214542819 rs1135352 T C 276 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.2161,C/0.7839;PC=0.955;Gene=PTPN14/NM_005401.4/1;CC=c.3252A>G;ProtCh=p.E1084=;VC=Silent;DM=PTPN14/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:67:0:0:75:2407:276.44:210.38:66.06:1.00:1.00:1.00:60:37.7:0:0:47:104:33:NM_005401.4(PTPN14) c.3252A>G (p.(=)),NM_005401.4(PTPN14) c.3252A>G (p.(=)):0.76,0.76:0.826695,0.826695 1 214543035 . C . . NT END=214546052;NT GT ./. 1 214543098 rs3738425 A G 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.8494,G/0.1506;PC=0.001;Gene=PTPN14/NM_005401.4/1;CC=c.3037-64T>C;VC=Intron;DM=PTPN14/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:3:0:0:18,14:566,451:0.00,42.25:0.00,5.53:0.00,36.72:0.00,1.00:0.00,0.84:0.00,1.00:60,60:8.4,54.6:0,0:0,0:113,106:37,44:20,18:-,NM_005401.4(PTPN14) c.3037-64T>C:-,0.18:-,NOT_FOUND 1 214546183 . C . . NT END=214549560;NT GT ./. 1 214549781 . C . . NT END=214551300;NT GT ./. 1 214551276 rs3013451 G A 263 nt VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.2135,A/0.7865;Gene=PTPN14/NM_005401.4/1;CC=c.2688+26C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:74:68:0:0:74:2284:263.43:197.95:65.48:1.00:1.00:1.00:60:37.7:0:0:59:90:27:NM_005401.4(PTPN14) c.2688+26C>T,NM_005401.4(PTPN14) c.2688+26C>T:0.77,0.77:0.83177,0.83177 1 214551446 . C . . NT END=214556652;NT GT ./. 1 214558132 . C . . NT END=214560185;NT GT ./. 1 214558228 rs3013446 A G 151 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.2007,G/0.7993;PC=0.001;Gene=PTPN14/NM_005401.4/1;CC=c.1067-97T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:G,T:41:7:0:0:40,1:1322,34:150.82,2.26:11.40,1.13:139.42,1.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,34.0:0,0:0,0:107,128:44,23:22,0:NM_005401.4(PTPN14) c.1067-97T>C,NM_005401.4(PTPN14) c.1067-97T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 214560266 . C . . NT END=214564329;NT GT ./. 1 214564340 rs7550799 T C 83 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2137,C/0.7863;PC=0.012;Gene=PTPN14/NM_005401.4/1;CC=c.978A>G;ProtCh=p.R326=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:18:0:0:23:719:82.81:57.78:25.03:1.00:1.00:1.00:60:55.2:0:0:42:100:21:NM_005401.4(PTPN14) c.978A>G (p.(=)),NM_005401.4(PTPN14) c.978A>G (p.(=)):0.76,0.76:0.839228,0.839228 1 214564389 . C . . NT END=214567036;NT GT ./. 1 214564442 rs11120307 C G 78 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5337,G/0.4663;Gene=PTPN14/NM_005401.4/1;CC=c.930-54G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:11:0:0:21:683:78.29:25.97:52.32:1.00:1.00:1.00:60:53.7:0:0:101:45:21:NM_005401.4(PTPN14) c.930-54G>C,NM_005401.4(PTPN14) c.930-54G>C:0.41,0.41:0.418747,0.418747 1 214566952 rs4655342 A G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2141,G/0.7859;PC=0.003;Gene=PTPN14/NM_005401.4/1;CC=c.929+86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:A,G:11:11:0:0:6,5:179,174:0.00,16.49:0.00,16.49:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:34.5,34.8:0,0:0,0:51,86:98,65:24,6:-,NM_005401.4(PTPN14) c.929+86T>C:-,0.77:-,NOT_FOUND 1 214567013 rs11322819 CG C 26 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=3187;Gene=PTPN14/NM_005401.4/1;CC=c.929+24delC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,C:22:16:0:10:12,10:372,274:0.00,25.58:0.00,12.86:0.00,12.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,16.1:0,0:0,0:52,17:96,125:37,8:-,NM_005401.4(PTPN14) c.929+24delC:-,NOT_FOUND:-,0.838019 1 214567121 . C . . NT END=214568240;NT GT ./. 1 214568330 . C . . NT END=214571254;NT GT ./. 1 214568471 rs11120308 C A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2107,A/0.7893;PC=0.002;Gene=PTPN14/NM_005401.4/1;CC=c.759-142G>T;VC=Intron;DM=PTPN14/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:223:25.60:0.00:25.60:1.00:0.00:1.00:60:31.9:0:0:84:67:4:NM_005401.4(PTPN14) c.759-142G>T,NM_005401.4(PTPN14) c.759-142G>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 214571251 rs11580603 A C 86 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6496,C/0.3504;Gene=PTPN14/NM_005401.4/1;CC=c.758+5T>G;VC=Intron;DM=PTPN14/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:21:0:0:23:753:86.22:62.12:24.10:1.00:1.00:1.00:60:41.7:0:0:27:119:11:NM_005401.4(PTPN14) c.758+5T>G,NM_005401.4(PTPN14) c.758+5T>G:0.41,0.41:0.37106,0.37106 1 214571345 . C . . NT END=214575026;NT GT ./. 1 214575116 . C . . NT END=214576224;NT GT ./. 1 214576297 . C . . NT END=214585025;NT GT ./. 1 214585095 . C . . NT END=214587970;NT GT ./. 1 214588070 . C . . NT END=214625146;NT GT ./. 1 214607265 rs10864095 C A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7041,A/0.2959;Gene=PTPN14/NM_005401.4/1;CC=c.344+17883G>T;VC=Intron;DM=PTPN14/FERM_M;DM=PTPN14/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,C:10:7:0:0:7,3:220,103:22.69,0.00:12.74,0.00:9.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.0,0.0:0,0:0,0:112,86:31,65:17,16:NM_005401.4(PTPN14) c.344+17883G>T,-:0.3,-:NOT_FOUND,- 1 214607305 . A C 16 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;Gene=PTPN14/NM_005401.4/1;CC=c.344+17843T>G;VC=Intron;DM=PTPN14/FERM_M;DM=PTPN14/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:3:4:144:16.31:0.00:16.31:1.00:0.00:1.00:60:131.5:4:0:80:70:5:NM_005401.4(PTPN14) c.344+17843T>G,NM_005401.4(PTPN14) c.344+17843T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 214607307 . A C 16 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;Gene=PTPN14/NM_005401.4/1;CC=c.344+17841T>G;VC=Intron;DM=PTPN14/FERM_M;DM=PTPN14/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:3:4:141:16.01:0.00:16.01:1.00:0.00:1.00:60:131.5:4:0:82:68:5:NM_005401.4(PTPN14) c.344+17841T>G,NM_005401.4(PTPN14) c.344+17841T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 214607309 . A C 16 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;Gene=PTPN14/NM_005401.4/1;CC=c.344+17839T>G;VC=Intron;DM=PTPN14/FERM_M;DM=PTPN14/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:3:4:143:16.21:0.00:16.21:1.00:0.00:1.00:60:131.5:4:0:84:66:5:NM_005401.4(PTPN14) c.344+17839T>G,NM_005401.4(PTPN14) c.344+17839T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 214607311 . A C 15 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;Gene=PTPN14/NM_005401.4/1;CC=c.344+17837T>G;VC=Intron;DM=PTPN14/FERM_M;DM=PTPN14/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,C:5:0:0:2:1,4:30,144:0.00,15.22:0.00,0.00:0.00,15.22:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,131.5:1,2:0,0:100,86:51,64:0,5:-,NM_005401.4(PTPN14) c.344+17837T>G:-,NOT_FOUND:-,NOT_FOUND 1 214625318 . C . . NT END=214637971;NT GT ./. 1 214625431 rs7355177 A G 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6963,G/0.3037;Gene=PTPN14/NM_005401.4/1;CC=c.175-114T>C;VC=Intron;DM=PTPN14/FERM_N;DM=PTPN14/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:12,11:352,373:0.00,35.66:0.00,0.00:0.00,35.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.2,39.6:0,0:0,0:77,102:73,49:17,24:-,NM_005401.4(PTPN14) c.175-114T>C:-,0.32:-,NOT_FOUND 1 214633841 rs4655250 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1741,G/0.8259;Gene=PTPN14/NM_005401.4/1;CC=c.174+4132T>C;VC=Intron;DM=PTPN14/FERM_N;DM=PTPN14/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:5:5:0:0:1,4:35,118:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:15,60:0.0,66.8:0,0:0,0:85,105:54,46:0,22:-,NM_005401.4(PTPN14) c.174+4132T>C:-,0.82:-,NOT_FOUND 1 214633955 rs71165972 TACACACACACACATAC T 6 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=617;PC=0.004;Gene=PTPN14/NM_005401.4/1;CC=c.174+4002_174+4017delGTATGTGTGTGTGTGT;VC=Intron;DM=PTPN14/FERM_N;DM=PTPN14/FERM_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,TACACACACACACATAC,T:5:2:0:2:1,2,2:13,66,66:0.89,0.00,6.31:1.04,0.00,-0.11:-0.15,0.00,6.43:0.00,0.00,0.46:0.00,0.00,0.70:0.00,0.00,0.87:60,60,60:45.0,0.0,48.0:0,0,0:0,0,0:147,40,91:3,111,43:0,34,16:-,NM_005401.4(PTPN14) c.174+4002_174+4017delGTATGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 214634001 rs4655251 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1739,T/0.8261;Gene=PTPN14/NM_005401.4/1;CC=c.174+3972G>A;VC=Intron;DM=PTPN14/FERM_N;DM=PTPN14/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:5:1:0:0:2,3:66,101:0.00,10.07:0.00,-0.20:0.00,10.27:0.00,0.78:0.00,0.73:0.00,0.78:60,60:0.0,53.7:0,0:0,0:85,105:66,46:33,33:-,NM_005401.4(PTPN14) c.174+3972G>A:-,0.82:-,NOT_FOUND 1 214637882 rs7528315 A G 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.1739,G/0.8261;Gene=PTPN14/NM_005401.4/1;CC=c.174+91T>C;VC=Intron;DM=PTPN14/FERM_N;DM=PTPN14/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:34:0:0:19,15:595,499:0.00,46.93:0.00,43.76:0.00,3.17:0.00,1.00:0.00,1.00:0.00,0.96:60,60:14.2,46.7:0,0:0,0:34,40:116,111:22,21:-,NM_005401.4(PTPN14) c.174+91T>C:-,0.83:-,NOT_FOUND 1 214638147 . G . . NT END=214787097;NT GT ./. 1 214638172 rs10864100 C T 178 nt VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.1739,T/0.8261;Gene=PTPN14/NM_005401.4/1;CC=c.-26G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:121:60:0:0:65,56:2019,1877:0.00,178.16:0.00,56.90:0.00,121.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,40.1:0,0:0,0:94,100:50,51:22,24:-,NM_005401.4(PTPN14) c.-26G>A:-,0.82:-,0.83441 1 214638319 rs10864101 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.1737,C/0.8263;Gene=PTPN14/NM_005401.4/1;CC=c.-154-19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:0:0:0:9,10:265,337:25.08,0.00:0.00,0.00:25.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:56.0,16.5:0,0:0,0:122,113:27,37:20,24:NM_005401.4(PTPN14) c.-154-19A>G,-:0.82,-:NOT_FOUND,- 1 214638347 rs10864102 A G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1735,G/0.8265;Gene=PTPN14/NM_005401.4/1;CC=c.-154-47T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:10:0:0:0:6,4:190,129:0.00,11.89:0.00,0.00:0.00,11.89:0.00,0.84:0.00,0.00:0.00,0.84:60,60:22.2,79.8:0,0:0,0:120,97:29,54:9,36:-,NM_005401.4(PTPN14) c.-154-47T>C:-,0.83:-,NOT_FOUND 1 214638380 . C G 10 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;Gene=PTPN14/NM_005401.4/1;CC=c.-154-80G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:5:0:0:0:2,3:61,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:93.0,44.3:2,0:0,0:92,144:59,5:8,1:-,NM_005401.4(PTPN14) c.-154-80G>C:-,NOT_FOUND:-,NOT_FOUND 1 214655922 rs56404750 GA G 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GA/0.1971,G/0.8029;NP=126;PC=0.880;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17623delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:GA,G:5:5:0:4:1,4:24,131:0.00,13.92:0.00,13.92:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:36.0,18.8:0,0:0,0:144,36:6,114:0,19:-,NM_005401.4(PTPN14) c.-154-17623delT:-,NOT_FOUND:-,NOT_FOUND 1 214656070 rs12740343 T C 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.995;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17770A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:19:0:0:9,13:265,411:24.32,0.00:21.58,0.00:2.74,0.00:1.00,0.00:1.00,0.00:0.95,0.00:54,52:30.9,34.2:0,0:0,0:52,46:99,105:29,18:NM_005401.4(PTPN14) c.-154-17770A>G,-:0.4,-:NOT_FOUND,- 1 214656164 rs58782956 A G 19 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=1030;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17864T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,G:41:33:0:0:32,9:1046,241:0.00,19.03:0.00,20.69:0.00,-1.67:0.00,0.99:0.00,1.00:0.00,0.99:60,42:6.6,90.7:0,0:0,0:80,83:62,67:36,11:-,NM_005401.4(PTPN14) c.-154-17864T>C:-,NOT_FOUND:-,NOT_FOUND 1 214656254 rs74797197 A G 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=161;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17954T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:27:0:0:27,16:902,481:0.00,43.36:0.00,31.37:0.00,11.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,222.3:0,0:0,0:74,67:77,83:49,19:-,NM_005401.4(PTPN14) c.-154-17954T>C:-,NOT_FOUND:-,NOT_FOUND 1 214656259 rs77987889 G A 45 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17959C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:26:0:0:15,28:501,886:45.19,0.00:30.27,0.00:14.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:229.2,8.7:0,0:0,0:75,78:76,72:12,45:NM_005401.4(PTPN14) c.-154-17959C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 214656267 rs75504040 C T 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17967G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:27:0:0:28,16:872,529:0.00,48.02:0.00,35.04:0.00,12.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,229.8:0,0:0,0:49,80:102,70:36,19:-,NM_005401.4(PTPN14) c.-154-17967G>A:-,NOT_FOUND:-,NOT_FOUND 1 214656268 rs78165379 A G 49 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17968T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:27:0:0:28,16:856,540:0.00,49.12:0.00,33.58:0.00,15.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,231.8:0,0:0,0:78,77:72,73:44,20:-,NM_005401.4(PTPN14) c.-154-17968T>C:-,NOT_FOUND:-,NOT_FOUND 1 214656277 rs79052802 C G 57 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17977G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:30:0:0:28,18:884,616:0.00,56.83:0.00,39.94:0.00,16.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,224.6:0,0:0,0:69,86:81,64:38,20:-,NM_005401.4(PTPN14) c.-154-17977G>C:-,NOT_FOUND:-,NOT_FOUND 1 214656298 rs55872127 C T 66 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-17998G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:35:0:0:30,23:994,711:0.00,66.30:0.00,42.14:0.00,24.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,207.9:0,0:0,0:52,79:95,72:33,42:-,NM_005401.4(PTPN14) c.-154-17998G>A:-,NOT_FOUND:-,NOT_FOUND 1 214656333 rs75490133 G A 89 nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18033C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:43:0:0:30,31:934,1050:89.30,0.00:51.30,0.00:37.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:180.2,13.7:0,0:0,0:41,66:107,78:23,30:NM_005401.4(PTPN14) c.-154-18033C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 214656359 rs57780679 T TC 229 nt VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.02356,TC/0.9764;NP=3411;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18060_-154-18059insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C,T,TC,D:70:48:66:1:1,2,66,1:34,60,2019,13:2.02,0.00,229.14,0.24:2.03,0.00,135.77,0.00:-0.01,0.00,93.36,0.24:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:51,60,60,46:273.0,237.5,92.3,218.0:0,0,0,1:0,0,0,0:25,148,62,72:126,1,86,78:0,0,30,0:NM_005401.4(PTPN14) c.-154-18060_-154-18059insG,NM_005401.4(PTPN14) c.-154-18060_-154-18059insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 214656362 rs79153607 T C 104 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18062A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:48:0:0:35,33:1082,1078:104.37,0.00:68.35,0.00:36.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:178.6,15.2:35,33:0,0:51,74:99,54:25,37:NM_005401.4(PTPN14) c.-154-18062A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 214656378 rs75388246 C T 124 nt VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18078G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:49:0:0:31,40:1020,1264:0.00,124.23:0.00,80.63:0.00,43.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.1,171.8:0,0:0,0:73,65:77,83:36,27:-,NM_005401.4(PTPN14) c.-154-18078G>A:-,NOT_FOUND:-,NOT_FOUND 1 214656413 rs74407488 T C 149 nt VT=SNV;PN=G;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18113A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:51:0:0:45,30:1498,899:149.35,0.00:75.44,0.00:73.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:163.0,24.7:0,0:0,0:73,81:76,69:35,36:NM_005401.4(PTPN14) c.-154-18113A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 214656464 rs75275552 G T 138 nt VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=2224;PC=0.889;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18164C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:75:50:0:1:32,43:1063,1394:0.00,137.69:0.00,67.59:0.00,70.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.1,177.7:0,0:0,0:59,82:90,62:33,32:-,NM_005401.4(PTPN14) c.-154-18164C>A:-,NOT_FOUND:-,NOT_FOUND 1 214656466 rs61745824 C G 196 nt VT=SNV;PN=A;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.6482,G/0.3518;PC=0.827;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18166G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:74:46:0:1:17,57:568,1867:0.00,196.50:0.00,95.40:0.00,101.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,151.2:0,0:0,0:61,73:88,71:33,28:-,NM_005401.4(PTPN14) c.-154-18166G>C:-,NOT_FOUND:-,NOT_FOUND 1 214656476 rs61745825 G A 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=0.875;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18176C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:46:0:0:17,58:507,1945:41.40,0.00:20.79,0.00:20.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.0,132.7:1,0:0,0:62,74:88,72:41,29:NM_005401.4(PTPN14) c.-154-18176C>T,-:0.06,-:NOT_FOUND,- 1 214656500 rs76083445 T C 128 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=0.986;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18200A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:77:45:0:0:1,40,36:11,1319,1179:-0.05,128.11,0.00:0.06,53.10,0.00:-0.10,75.01,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:59,60,60:182.0,174.3,36.7:0,0,0:0,0,0:86,80,76:64,70,75:0,34,30:NM_005401.4(PTPN14) c.-154-18200A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 214656526 rs80102871 T C 145 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.5034,C/0.4966;NP=1213;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:78:47:0:0:43,35:1477,1080:144.97,0.00:61.69,0.00:83.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:168.8,24.5:0,0:0,0:86,62:64,88:36,33:NM_005401.4(PTPN14) c.-154-18226A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 214656527 rs75133125 G A 139 nt VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.5034,A/0.4966;NP=1212;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18227C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:47:0:0:43,35:1413,1181:138.53,0.00:60.20,0.00:78.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:168.7,25.6:0,0:0,0:87,81:63,69:36,34:NM_005401.4(PTPN14) c.-154-18227C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 214656575 rs74142715 C T 136 nt VT=SNV;PN=C;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=0.996;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18275G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:86:56:0:0:40,1,45:1287,6,1403:0.00,-0.17,136.13:0.00,-0.06,77.27:0.00,-0.11,58.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.7,15.0,129.9:0,0,0:0,0,0:65,91,70:83,60,80:39,0,40:-,NM_005401.4(PTPN14) c.-154-18275G>A:-,NOT_FOUND:-,NOT_FOUND 1 214656606 rs77432910 CTCTT C 115 nt VT=DEL;SST=Single;DP=80;DB;DBA=NA;PAF=CTCTT/0.5088,C/0.4912;NP=3147;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18310_-154-18307delAAGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTCTT,C:80:54:0:39:41,39:1425,1202:0.00,114.65:0.00,70.02:0.00,44.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.5,107.5:0,0:0,0:75,63:76,81:40,29:-,NM_005401.4(PTPN14) c.-154-18310_-154-18307delAAGA:-,NOT_FOUND:-,NOT_FOUND 1 214656668 rs55783822 G C 217 nt VT=SNV;PN=G;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=3327;PC=0.993;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18368C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:74:49:0:0:59,15:2053,479:217.25,0.00:111.41,0.00:105.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:97.6,32.1:0,0:0,0:82,82:68,65:33,46:NM_005401.4(PTPN14) c.-154-18368C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 214656669 rs59683713 C T 211 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=0.990;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18369G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:49:0:0:15,59:434,1985:0.00,210.51:0.00,107.36:0.00,103.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.7,96.8:0,0:0,0:87,83:58,67:48,33:-,NM_005401.4(PTPN14) c.-154-18369G>A:-,NOT_FOUND:-,NOT_FOUND 1 214656697 rs3795525 C T 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18397G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:40:0:0:53,16:1638,520:0.00,43.42:0.00,13.47:0.00,29.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:94.9,36.4:0,0:0,0:96,64:46,65:30,40:-,NM_005401.4(PTPN14) c.-154-18397G>A:-,0.2:-,NOT_FOUND 1 214656740 rs78564084 A G 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=776;PC=0.312;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18440T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:22:0:0:28,17:965,510:0.00,46.11:0.00,16.79:0.00,29.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.5,137.9:0,0:0,0:80,122:63,25:25,11:-,NM_005401.4(PTPN14) c.-154-18440T>C:-,NOT_FOUND:-,NOT_FOUND 1 214656762 rs77163514 T G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=11;PC=0.884;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18462A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:15:0:0:9,25:288,831:24.56,0.00:8.10,0.00:16.46,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:160.8,33.2:0,0:0,0:133,96:18,49:7,23:NM_005401.4(PTPN14) c.-154-18462A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 214656775 rs369404345 A G 13 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.003;Gene=PTPN14/NM_005401.4/1;CC=c.-154-18475T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,G:30:11:0:0:24,6:809,170:0.00,13.36:0.00,0.26:0.00,13.10:0.00,0.90:0.00,0.87:0.00,0.99:60,55:30.2,175.5:0,0:0,0:104,143:39,7:27,3:-,NM_005401.4(PTPN14) c.-154-18475T>C:-,NOT_FOUND:-,NOT_FOUND 1 214704842 rs58506242 AAC A 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;PC=0.005;Gene=PTPN14/NM_005401.4/1;CC=c.-155+19682_-155+19683delGT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:AAC,A:5:4:0:3:2,3:68,94:0.00,9.37:0.00,4.78:0.00,4.58:0.00,0.78:0.00,0.97:0.00,0.97:60,60:2.5,0.0:0,0:0,0:127,51:23,99:4,25:-,NM_005401.4(PTPN14) c.-155+19682_-155+19683delGT:-,NOT_FOUND:-,NOT_FOUND 1 214787130 rs2070064 G A 307 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.7638,A/0.2362,T/.;PC=0.655;Gene=CENPF/NM_016343.3/1;CC=c.33G>A;ProtCh=p.G11=;VC=Silent;DM=CENPF/CENP-F_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:84:71:0:0:84:2671:306.98:198.14:108.84:1.00:1.00:1.00:60:40.3:0:0:70:73:31:NM_016343.3(CENPF) c.33G>A (p.(=)),NM_016343.3(CENPF) c.33G>A (p.(=)):0.27,0.27:0.382516,0.382516 1 214787260 . G . . NT END=214788174;NT GT ./. 1 214788372 . G . . NT END=214791915;NT GT ./. 1 214792038 . G . . NT END=214792471;NT GT ./. 1 214792564 . G . . NT END=214793997;NT GT ./. 1 214794290 . G . . NT END=214795421;NT GT ./. 1 214795625 . G . . NT END=214802388;NT GT ./. 1 214802515 . G . . NT END=214803876;NT GT ./. 1 214804006 . G . . NT END=214805822;NT GT ./. 1 214805946 . G . . NT END=214811208;NT GT ./. 1 214811345 . G . . NT END=214813263;NT GT ./. 1 214813061 rs2666829 A G 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4475,G/0.5525;Gene=CENPF/NM_016343.3/1;CC=c.1583-203A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:416:47.76:47.76:0.00:1.00:1.00:0.00:60:50.9:0:0:30:120:28:NM_016343.3(CENPF) c.1583-203A>G,NM_016343.3(CENPF) c.1583-203A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 214814571 rs3795521 C T 323 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.761,T/0.239;PC=0.013;Gene=CENPF/NM_016343.3/1;CC=c.2890C>T;ProtCh=p.L964=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:92:59:0:0:1,91:13,2817:0.00,322.88:0.00,178.16:0.00,144.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,36.9:0,0:0,0:9,86:141,63:0,41:NM_016343.3(CENPF) c.2890C>T (p.(=)),NM_016343.3(CENPF) c.2890C>T (p.(=)):0.27,0.27:0.380473,0.380473 1 214816668 . G . . NT END=214817899;NT GT ./. 1 214820099 rs3748697 A G 279 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.765,G/0.235;Gene=CENPF/NM_016343.3/1;CC=c.7186A>G;ProtCh=p.N2396D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:80:45:0:0:2,1,77:16,12,2455:0.00,0.17,278.72:0.00,0.00,125.62:0.00,0.17,153.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:108.0,102.0,43.2:0,0,0:0,0,0:76,14,73:59,133,78:30,0,41:NM_016343.3(CENPF) c.7186A>G (p.Asn2396Asp),NM_016343.3(CENPF) c.7186A>G (p.Asn2396Asp):0.27,0.27:0.376634,0.376634 1 214820744 . G . . NT END=214822017;NT GT ./. 1 214822171 . G . . NT END=214825052;NT GT ./. 1 214825230 . G . . NT END=214826170;NT GT ./. 1 214825289 . CT C 18 sb;idl,rn VT=DEL;SST=Single;DP=66;NP=25;Gene=CENPF/NM_016343.3/1;CC=c.8160+72delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:CT,T,I,C:64:25:2:11:52,2,2,8:1632,24,56,315:0.00,0.05,2.84,18.38:0.00,-0.20,0.68,0.59:0.00,0.24,2.15,17.79:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.90:0.00,0.00,0.00,1.00:60,60,60,60:13.2,143.5,14.0,1.8:0,0,0,2:0,0,0,0:124,67,70,104:25,83,80,40:19,31,40,12:-,NM_016343.3(CENPF) c.8160+61delT:-,NOT_FOUND:-,NOT_FOUND 1 214825411 rs35011701 AT A 13 idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=16;PC=0.268;Gene=CENPF/NM_016343.3/1;CC=c.8160+200delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:AT,T,I,A:15:0:2:10:7,1,2,5:177,12,55,308:0.00,0.35,4.14,12.82:0.00,0.00,0.00,0.00:0.00,0.35,4.14,12.82:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.85:60,60,60,60:69.1,26.0,5.5,26.6:0,0,0,5:0,0,0,0:138,9,113,83:12,141,38,65:6,0,15,17:-,NM_016343.3(CENPF) c.8160+183delT:-,NOT_FOUND:-,NOT_FOUND 1 214825975 rs143935764 CAG C 31 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=120;PC=0.005;Gene=CENPF/NM_016343.3/1;CC=c.8161-195_8161-194delAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:CAG,C:10:10:0:9:1,9:12,276:0.00,30.56:0.00,30.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:55.0,22.4:0,0:0,0:150,45:1,105:0,15:NM_016343.3(CENPF) c.8161-195_8161-194delAG,NM_016343.3(CENPF) c.8161-195_8161-194delAG:0.22,0.22:NOT_FOUND,NOT_FOUND 1 214826105 . AT A 9 rn VT=DEL;SST=Single;DP=32;PC=0.014;Gene=CENPF/NM_016343.3/1;CC=c.8161-57delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:AT,I,A:32:25:1:4:27,1,4:822,33,122:0.00,1.90,8.94:0.00,-0.25,7.28:0.00,2.15,1.66:0.00,0.00,0.63:0.00,0.00,0.91:0.00,0.00,0.78:60,60,60:17.6,0.0,0.0:0,0,0:0,0,0:34,59,33:106,92,116:22,0,19:-,NM_016343.3(CENPF) c.8161-65delT:-,NOT_FOUND:-,NOT_FOUND 1 214826333 . G . . NT END=214828583;NT GT ./. 1 214828747 . G . . NT END=214830275;NT GT ./. 1 214830753 . G . . NT END=214832192;NT GT ./. 1 214832372 . G . . NT END=214836933;NT GT ./. 1 214837138 . A . . NT END=215179264;NT GT ./. 1 214837210 rs11537814 T C 154 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.9808,C/0.01917;Gene=CENPF/NM_016343.3/1;CC=c.*73T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:2:0:0:43:1334:153.78:3.83:149.96:1.00:1.00:1.00:60:35.8:0:0:104:46:34:NM_016343.3(CENPF) c.*73T>C,NM_016343.3(CENPF) c.*73T>C:0.02,0.02:NOT_FOUND,NOT_FOUND 1 215043729 rs6540869 C T 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4685,T/0.5315;PC=0.424 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,T:20:20:0:0:3,17:73,495:0.00,53.89:0.00,53.89:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:76.3,87.8:0,0:0,0:82,37:69,112:30,31:-,chr1 g.215043728C>T (intergenic):-,0.08:-,NOT_FOUND 1 215043771 rs6662362 T C 124 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.232 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:32:0:0:33:1087:124.38:118.86:5.52:1.00:1.00:1.00:40:104.5:0:0:31:107:24:chr1 g.215043770T>C (intergenic),chr1 g.215043770T>C (intergenic):0.06,0.06:NOT_FOUND,NOT_FOUND 1 215043797 rs6662371 T C 243 nt VT=SNV;PN=C;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=136;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:C,T:76:66:0:0:71,5:2170,127:243.04,0.00:182.87,0.00:60.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,40:96.3,85.2:0,0:0,0:20,24:129,127:14,6:chr1 g.215043796T>C (intergenic),chr1 g.215043796T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 215043884 rs6662483 T C 492 nt VT=SNV;PN=G;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=T/0.389,C/0.611 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:131:104:0:0:131:4297:491.82:284.08:207.75:1.00:1.00:1.00:60:82.8:0:0:86:62:21:chr1 g.215043883T>C (intergenic),chr1 g.215043883T>C (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 1 215043925 rs6686227 A G 505 nt VT=SNV;PN=C;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=NA;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:142:104:0:0:142:4376:505.02:245.44:259.58:1.00:1.00:1.00:60:68.8:0:0:94:54:37:chr1 g.215043924A>G (intergenic),chr1 g.215043924A>G (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 1 215044768 rs869379 C G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4509,G/0.5491;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:3:0:0:5:118:14.13:6.45:7.68:1.00:1.00:1.00:60:39.4:0:0:96:55:12:chr1 g.215044767C>G (intergenic),chr1 g.215044767C>G (intergenic):0.61,0.61:NOT_FOUND,NOT_FOUND 1 215179299 . G . . NT END=215256559;NT GT ./. 1 215218139 rs11590918 T C 11 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=145;PC=0.007;Gene=KCNK2/NM_001017424.2/0;CC=c.34+38841T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:4:0:0:3,1:102,35:10.65,0.00:9.08,0.00:1.58,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:57.7,0.0:0,0:0,0:55,45:94,38:25,0:NM_001017424.2(KCNK2) c.34+38841T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 215256537 rs201482650 TC T 16 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=677;PC=0.424;Gene=KCNK2/NM_001017424.2/0;CC=c.35-3165delC;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:TC,T:13:11:0:8:7,6:191,175:0.00,16.47:0.00,6.15:0.00,10.33:0.00,0.97:0.00,1.00:0.00,0.98:60,70:59.0,11.0:0,0:0,0:122,35:16,111:23,4:-,NM_001017425.2(KCNK2) c.-169-u22delC:-,0.24:-,NOT_FOUND 1 215256775 . G . . NT END=215259710;NT GT ./. 1 215256888 rs61818297 G A 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7344,A/0.2656;Gene=KCNK2/NM_001017424.2/0;CC=c.35-2823G>A;VC=Intron;Gene=KCNK2/NM_001017425.2/1;CC=c.46+114G>A;VC=Intron;Gene=KCNK2/NM_014217.3/0;CC=c.1+238G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:334:39.48:0.00:39.48:1.00:0.00:1.00:60:29.4:0:0:109:42:19:NM_001017425.2(KCNK2) c.46+114G>A,NM_001017425.2(KCNK2) c.46+114G>A:0.23,0.23:NOT_FOUND,NOT_FOUND 1 215257564 rs71167806 C T,CTT 11 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=248;NP=267;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:62:T,CTT:5:4:2:0:3,2:100,64:10.76,6.56:5.38,1.69:5.38,4.87:0.78,0.00:0.97,0.00:0.78,0.00:60,70:63.0,34.0:0,0:0,0:108,10:41,140:6,3:NM_001017425.2(KCNK2) c.46+790C>T,NM_001017425.2(KCNK2) c.46+790_46+791insTT:NOT_FOUND,0.96:NOT_FOUND,NOT_FOUND 1 215257606 rs4589083 C A 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.07847,A/0.9215;Gene=KCNK2/NM_001017424.2/0;CC=c.35-2105C>A;VC=Intron;Gene=KCNK2/NM_001017425.2/1;CC=c.46+832C>A;VC=Intron;Gene=KCNK2/NM_014217.3/0;CC=c.1+956C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:169:19.28:5.82:13.47:1.00:1.00:1.00:70:57.0:0:0:58:93:7:NM_001017425.2(KCNK2) c.46+832C>A,NM_001017425.2(KCNK2) c.46+832C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 215259486 rs61818299 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7344,G/0.2656;Gene=KCNK2/NM_001017424.2/0;CC=c.35-225A>G;VC=Intron;Gene=KCNK2/NM_001017425.2/1;CC=c.47-225A>G;VC=Intron;Gene=KCNK2/NM_014217.3/0;CC=c.2-225A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:129:15.12:15.12:0.00:1.00:1.00:0.00:60:71.6:0:0:8:143:8:NM_001017425.2(KCNK2) c.47-225A>G,NM_001017425.2(KCNK2) c.47-225A>G:0.23,0.23:NOT_FOUND,NOT_FOUND 1 215260022 . G . . NT END=215297975;NT GT ./. 1 215298094 . G . . NT END=215342541;NT GT ./. 1 215342703 . G . . NT END=215345339;NT GT ./. 1 215345527 . G . . NT END=215368295;NT GT ./. 1 215368436 . G . . NT END=215408170;NT GT ./. 1 215368514 rs1556907 A G 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6152,G/0.3848;Gene=KCNK2/NM_001017424.2/0;CC=c.951+79A>G;VC=Intron;Gene=KCNK2/NM_001017425.2/1;CC=c.963+79A>G;VC=Intron;Gene=KCNK2/NM_014217.3/0;CC=c.918+79A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:4:0:0:7,11:207,350:0.00,35.01:0.00,5.23:0.00,29.77:0.00,1.00:0.00,0.98:0.00,1.00:60,60:14.4,40.9:0,0:0,0:108,112:42,39:16,23:-,NM_001017425.2(KCNK2) c.963+79A>G:-,0.34:-,NOT_FOUND 1 215408057 rs11120527 G T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6973,T/0.3027;Gene=KCNK2/NM_001017424.2/0;CC=c.952-114G>T;VC=Intron;Gene=KCNK2/NM_001017425.2/1;CC=c.964-114G>T;VC=Intron;Gene=KCNK2/NM_014217.3/0;CC=c.919-114G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:21:0:0:13,8:393,239:0.00,21.64:0.00,21.64:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:15.2,47.6:0,0:0,0:38,39:112,112:28,30:-,NM_001017425.2(KCNK2) c.964-114G>T:-,0.23:-,NOT_FOUND 1 215408489 . C . . NT END=215741028;NT GT ./. 1 215445850 rs61819713 G T 10 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.7392,T/0.2608;PC=0.079 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,T:4:2:0:0:1,3:10,100:0.00,10.50:0.00,3.75:0.00,6.75:0.00,0.85:0.00,0.95:0.00,0.85:40,60:236.0,37.3:0,0:0,0:67,9:70,142:0,0:-,chr1 g.215445849G>T (intergenic):-,0.2:-,NOT_FOUND 1 215741053 rs2275768 T G 127 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.7087,G/0.2913;PC=0.044;Gene=KCTD3/NM_016121.3/1;CC=c.25T>G;ProtCh=p.F9V;VC=Missense;DM=KCTD3/BTB_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:105:80:0:0:1,44,60:7,1365,2030:-0.22,126.70,0.00:-0.14,65.97,0.00:-0.07,60.73,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:67.0,43.3,4.8:0,0,0:0,0,0:6,65,73:145,81,60:0,36,31:NM_016121.3(KCTD3) c.25T>G (p.Phe9Val),-:0.27,-:0.154692,- 1 215741112 . G . . NT END=215747128;NT GT ./. 1 215747183 . G . . NT END=215747415;NT GT ./. 1 215747462 . G . . NT END=215749243;NT GT ./. 1 215749318 . G . . NT END=215751012;NT GT ./. 1 215751072 . G . . NT END=215751271;NT GT ./. 1 215751425 . G . . NT END=215752342;NT GT ./. 1 215752481 . G . . NT END=215753251;NT GT ./. 1 215753343 . G . . NT END=215759837;NT GT ./. 1 215753355 rs11803705 T G 68 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7043,G/0.2957;Gene=KCTD3/NM_016121.3/1;CC=c.626+13T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:15:0:0:20,10:666,318:67.83,0.00:24.42,0.00:43.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,5.7:0,0:0,0:105,116:46,34:21,15:NM_016121.3(KCTD3) c.626+13T>G,-:0.27,-:0.212979,- 1 215760029 . G . . NT END=215768697;NT GT ./. 1 215768814 . G . . NT END=215775208;NT GT ./. 1 215775297 . G . . NT END=215775426;NT GT ./. 1 215775544 . G . . NT END=215777473;NT GT ./. 1 215777645 . G . . NT END=215781358;NT GT ./. 1 215781515 . G . . NT END=215785166;NT GT ./. 1 215781574 rs3767255 A G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6973,G/0.3027;Gene=KCTD3/NM_016121.3/1;CC=c.1465+60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:5:0:0:8,10:261,323:0.00,31.70:0.00,5.38:0.00,26.32:0.00,1.00:0.00,0.98:0.00,1.00:60,60:4.2,37.6:0,0:0,0:92,109:59,39:37,25:-,NM_016121.3(KCTD3) c.1465+60A>G:-,0.27:-,NOT_FOUND 1 215785264 . G . . NT END=215792227;NT GT ./. 1 215792413 . G . . NT END=215792494;NT GT ./. 1 215792634 . G . . NT END=215793398;NT GT ./. 1 215793834 rs14137 G A 79 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.5857,A/0.4143;Gene=KCTD3/NM_016121.3/1;CC=c.2322G>A;ProtCh=p.A774=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:42:0:0:26,39:858,1168:79.25,0.00:36.21,0.00:43.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,9.6:0,0:0,0:81,57:63,93:22,30:NM_016121.3(KCTD3) c.2322G>A (p.(=)),-:0.48,-:0.54075,- 1 215793961 . A . . NT END=215799122;NT GT ./. 1 215799213 . C . . NT END=215802155;NT GT ./. 1 215802378 . C . . NT END=215807800;NT GT ./. 1 215808046 . C . . NT END=215812496;NT GT ./. 1 215812581 . C . . NT END=215813899;NT GT ./. 1 215814077 . C . . NT END=215820863;NT GT ./. 1 215814142 rs371387260 TA T 10 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=37;PC=0.001;Gene=USH2A/NM_206933.2/1;CC=c.14792-67delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,TA,I,T:44:11:5:5:6,29,4,5:76,793,152,135:3.68,0.00,8.55,9.65:-0.31,0.00,3.94,2.17:3.99,0.00,4.61,7.49:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.65:0.00,0.00,0.00,0.97:60,60,60,60:71.8,22.0,37.0,37.6:0,0,1,0:0,0,0,0:38,126,108,104:112,23,42,47:6,18,1,24:-,NM_206933.2(USH2A) c.14792-67delT:-,NOT_FOUND:-,NOT_FOUND 1 215814186 rs66968954 CA C 17 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;Gene=USH2A/NM_206933.2/1;CC=c.14792-111delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,CA,C:18:4:0:20:1,10,7:27,208,416:1.59,0.00,16.65:-0.02,0.00,-0.29:1.61,0.00,16.94:0.00,0.00,0.96:0.00,0.00,0.70:0.00,0.00,1.00:60,60,60:49.0,40.5,149.0:0,1,9:0,0,0:8,129,83:143,13,61:0,18,13:-,NM_206933.2(USH2A) c.14792-111delT:-,NOT_FOUND:-,NOT_FOUND 1 215821073 . C . . NT END=215821869;NT GT ./. 1 215822109 . C . . NT END=215823933;NT GT ./. 1 215824144 . C . . NT END=215844313;NT GT ./. 1 215844636 . C . . NT END=215847441;NT GT ./. 1 215844714 . T TA 20 rn VT=INS;SST=Single;DP=36;NP=61;PC=0.011;Gene=USH2A/NM_206933.2/1;CC=c.13812-80dupT;VC=Intron;DM=USH2A/fn3;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:36:9:8:2:26,8,2:693,246,62:0.00,20.39,4.01:0.00,1.23,3.35:0.00,19.16,0.66:0.00,0.98,0.00:0.00,0.85,0.00:0.00,1.00,0.00:60,60,60:10.0,26.9,12.0:0,0,0:0,0,0:87,103,113:64,47,37:48,13,8:-,NM_206933.2(USH2A) c.13812-80_13812-79insT:-,NOT_FOUND:-,NOT_FOUND 1 215848587 rs2797234 T C 186 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=139;DB;DBA=in-clinvar;PAF=T/0.6969,C/0.3031;PC=0.210;Gene=USH2A/NM_206933.2/1;CC=c.12666A>G;ProtCh=p.T4222=;VC=Silent;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:139:96:0:0:64,75:1967,2350:185.54,0.00:105.85,0.00:79.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.3,30.3:0,0:0,0:86,68:61,82:44,39:NM_206933.2(USH2A) c.12666A>G (p.(=)),-:0.31,-:0.333692,- 1 215848641 rs2797235 T C 534 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=T/0.3103,C/0.6897;PC=0.066;Gene=USH2A/NM_206933.2/1;CC=c.12612A>G;ProtCh=p.T4204=;VC=Silent;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:147:97:0:0:1,145,1:7,4667,8:0.03,533.70,0.00:0.03,285.40,0.00:0.00,248.30,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:62.0,46.3,87.0:0,0,0:0,0,0:61,75,88:89,74,63:0,43,0:NM_206933.2(USH2A) c.=,NM_206933.2(USH2A) c.=:0.71,0.71:0.754421,0.754421 1 215848959 . C . . NT END=215853490;NT GT ./. 1 215853719 . C . . NT END=215901371;NT GT ./. 1 215853748 rs5780842 GT G 125 idl,rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1469;PC=0.004;Gene=USH2A/NM_206933.2/1;CC=c.12067-31delA;VC=Intron;DM=USH2A/fn3;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:53:19:1:40:14,1,38:450,31,1260:0.00,1.73,125.40:0.00,-0.04,20.35:0.00,1.77,105.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.1,0.0,10.9:0,0,2:0,0,0:136,125,88:10,26,62:6,0,34:-,NM_206933.2(USH2A) c.12067-31delA:-,NOT_FOUND:-,NOT_FOUND 1 215901492 rs2820718 C T 166 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=127;DB;DBA=in-clinvar;PAF=C/0.8812,T/0.1188;PC=0.643;Gene=USH2A/NM_206933.2/1;CC=c.11946G>A;ProtCh=p.L3982=;VC=Silent;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:127:101:0:0:69,58:2320,1768:0.00,166.37:0.00,117.14:0.00,49.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,42.9:0,0:0,0:61,72:89,76:28,44:-,NM_206933.2(USH2A) c.11946G>A (p.(=)):-,0.13:-,0.180071 1 215901727 . C . . NT END=215914716;NT GT ./. 1 215901924 rs59113488 G GACACACAC 8 idl,nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2145,GACACACAC/0.7855;DB;DBA=NA;PAF=G/0.2145,GACAC/.,GACACAC/.,GACACACAC/0.7855,GACACACACACACAC/.;NP=1;NP=12;PC=0.001;Gene=USH2A/NM_206933.2/1;CC=c.11712-199_11712-198insGTGTGTGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,GACACACAC:10:4:6:0:7,3:193,175:0.00,8.43:0.00,4.23:0.00,4.19:0.00,0.58:0.00,0.66:0.00,0.89:60,60:23.3,32.3:0,3:0,0:113,81:25,69:33,22:-,NM_206933.2(USH2A) c.11712-199_11712-198insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 215901987 rs10864191 G T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4369,T/0.5631;Gene=USH2A/NM_206933.2/1;CC=c.11712-261C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:G,T:10:3:0:0:5,5:169,157:0.00,15.07:0.00,5.11:0.00,9.96:0.00,0.95:0.00,0.89:0.00,0.95:60,60:11.4,37.4:0,0:0,0:83,80:46,52:27,8:-,NM_206933.2(USH2A) c.11712-261C>A:-,0.59:-,NOT_FOUND 1 215914880 . C . . NT END=215916518;NT GT ./. 1 215916421 rs2797223 C T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.9014,T/0.09864;PC=0.943;Gene=USH2A/NM_206933.2/1;CC=c.11548+98G>A;VC=Intron;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:10,8:353,238:0.00,22.22:0.00,19.13:0.00,3.09:0.00,0.99:0.00,0.99:0.00,0.94:60,60:0.0,31.0:0,0:0,0:33,45:118,105:14,33:-,NM_206933.2(USH2A) c.11548+98G>A:-,0.11:-,NOT_FOUND 1 215916678 . C . . NT END=215931936;NT GT ./. 1 215916730 rs6540907 G A 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=402;PC=0.039;Gene=USH2A/NM_206933.2/1;CC=c.11390-53C>T;VC=Intron;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:14:5:0:0:11,3:365,98:38.59,0.00:11.02,0.00:27.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:89.8,4.3:0,0:0,0:120,104:26,47:14,13:NM_206933.2(USH2A) c.11390-53C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 215916732 rs4053764 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=5;PC=0.037;Gene=USH2A/NM_206933.2/1;CC=c.11390-55C>T;VC=Intron;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:5:0:0:7,8:232,276:22.04,0.00:3.00,0.00:19.04,0.00:0.99,0.00:0.95,0.00:1.00,0.00:60,60:124.1,24.2:0,0:0,0:115,106:34,38:21,14:NM_206933.2(USH2A) c.11390-55C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 215916734 rs372668836 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.010;Gene=USH2A/NM_206933.2/1;CC=c.11390-57C>T;VC=Intron;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:16:5:0:0:5,11:168,322:14.88,0.00:2.97,0.00:11.91,0.00:0.88,0.00:0.84,0.00:0.99,0.00:60,60:142.2,32.6:0,0:0,0:117,119:32,22:26,13:NM_206933.2(USH2A) c.11390-57C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 215916758 rs377724243 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7135,A/0.2865;NP=14;PC=0.058;Gene=USH2A/NM_206933.2/1;CC=c.11390-81C>T;VC=Intron;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,G:10:2:0:1:4,6:112,194:10.17,0.00:1.63,0.00:8.54,0.00:0.84,0.00:0.70,0.00:0.84,0.00:60,60:132.8,34.3:0,0:0,0:111,127:9,24:18,12:NM_206933.2(USH2A) c.11390-81C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 215931704 rs2820730 T C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.03654,C/0.9635;Gene=USH2A/NM_206933.2/1;CC=c.11389+233A>G;VC=Intron;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:169:19.75:16.88:2.88:1.00:1.00:1.00:60:52.2:0:0:28:122:23:NM_206933.2(USH2A) c.11389+233A>G,NM_206933.2(USH2A) c.11389+233A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 215931922 . C CT 15 idl,rn VT=INS;SST=Single;DP=41;NP=2;Gene=USH2A/NM_206933.2/1;CC=c.11389+14dupA;VC=Intron;DM=USH2A/fn3;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,CT,D:40:36:6:6:30,6,4:954,196,153:0.00,15.40,8.83:0.00,13.05,4.11:0.00,2.35,4.73:0.00,0.87,0.00:0.00,0.98,0.00:0.00,0.87,0.00:60,60,60:14.4,36.5,20.5:0,0,1:0,0,0:59,26,21:92,117,114:29,17,13:-,NM_206933.2(USH2A) c.11389+14_11389+15insA:-,NOT_FOUND:-,NOT_FOUND 1 215932095 . C . . NT END=215933001;NT GT ./. 1 215933186 . C . . NT END=215940022;NT GT ./. 1 215933460 rs2797227 C T 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4229,T/0.5771;Gene=USH2A/NM_206933.2/1;CC=c.11048-275G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:225:25.84:0.00:25.84:1.00:0.00:1.00:60:38.0:0:0:101:49:39:NM_206933.2(USH2A) c.11048-275G>A,NM_206933.2(USH2A) c.11048-275G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 215940131 . C . . NT END=215953184;NT GT ./. 1 215953384 . C . . NT END=215955383;NT GT ./. 1 215955539 . C . . NT END=215956079;NT GT ./. 1 215956278 . C . . NT END=215960011;NT GT ./. 1 215960217 . C . . NT END=215963400;NT GT ./. 1 215963625 . C . . NT END=215972248;NT GT ./. 1 215972468 . C . . NT END=215987077;NT GT ./. 1 215987247 . C . . NT END=215990338;NT GT ./. 1 215990538 . C . . NT END=216011332;NT GT ./. 1 216011446 . C . . NT END=216017635;NT GT ./. 1 216017839 . C . . NT END=216019165;NT GT ./. 1 216019376 . C . . NT END=216040348;NT GT ./. 1 216040513 . C . . NT END=216051099;NT GT ./. 1 216051223 . C . . NT END=216052105;NT GT ./. 1 216052441 . C . . NT END=216061767;NT GT ./. 1 216062397 . C . . NT END=216073416;NT GT ./. 1 216073560 . C . . NT END=216074096;NT GT ./. 1 216074248 . C . . NT END=216107957;NT GT ./. 1 216108138 . C . . NT END=216138658;NT GT ./. 1 216138822 . C . . NT END=216143966;NT GT ./. 1 216144119 . C . . NT END=216166361;NT GT ./. 1 216166510 . C . . NT END=216172228;NT GT ./. 1 216172401 . C . . NT END=216173744;NT GT ./. 1 216172585 rs1436780 G A 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.03574,A/0.9643;PC=0.552;Gene=USH2A/NM_206933.2/1;CC=c.6486-185C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:319:36.67:0.00:36.67:1.00:0.00:1.00:60:33.9:0:0:111:40:20:NM_206933.2(USH2A) c.6486-185C>T,NM_206933.2(USH2A) c.6486-185C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 216173905 . C . . NT END=216219772;NT GT ./. 1 216219781 rs6657250 A G 78 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.4044,G/0.5956;PC=0.866;Gene=USH2A/NM_206933.2/1;CC=c.6317T>C;ProtCh=p.I2106T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:56:0:0:43,26:1320,857:0.00,78.24:0.00,52.76:0.00,25.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,41.9:0,0:0,0:65,77:85,74:33,34:-,NM_206933.2(USH2A) c.=:-,0.62:-,0.700446 1 216219935 . C . . NT END=216221875;NT GT ./. 1 216221990 . C . . NT END=216243442;NT GT ./. 1 216243635 . C . . NT END=216246230;NT GT ./. 1 216246312 . C . . NT END=216246438;NT GT ./. 1 216246643 . C . . NT END=216251430;NT GT ./. 1 216246675 rs397829042 AG A 239 nt VT=DEL;SST=Single;DP=67;DB;DBA=NA;PAF=AG/0.2127,A/0.7873;DB;DBA=NA;PAF=AG/0.2127,A/0.7873;NP=2883;PC=0.998;Gene=USH2A/NM_206933.2/1;CC=c.5573-34delC;VC=Intron;Gene=LOC102723833/NR_125992.1/0;VC=NonCoding;Gene=LOC102723833/NR_125993.1/0;VC=NonCoding;DM=USH2A/Laminin_G_2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:AG,A:67:20:0:65:2,65:64,2115:0.00,238.59:0.00,44.71:0.00,193.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,2.1:0,0:0,0:147,105:2,38:2,25:NM_206933.2(USH2A) c.5573-34delC,NM_206933.2(USH2A) c.5573-34delC:0.78,0.78:0.708546,0.708546 1 216251705 . C . . NT END=216256797;NT GT ./. 1 216256929 . C . . NT END=216258039;NT GT ./. 1 216258194 rs56110889 G T 67 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=in-clinvar;PAF=G/0.8942,T/0.1058;PC=0.987;Gene=USH2A/NM_206933.2/1;CC=c.5013C>A;ProtCh=p.G1671=;VC=Silent;Gene=LOC102723833/NR_125992.1/0;VC=NonCoding;Gene=LOC102723833/NR_125993.1/0;VC=NonCoding;DM=USH2A/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:61:28:0:0:36,25:1159,735:0.00,67.46:0.00,22.59:0.00,44.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,37.1:0,0:0,0:84,103:61,48:30,22:-,NM_206933.2(USH2A) c.5013C>A (p.(=)):-,0.12:-,0.178764 1 216258220 . C . . NT END=216260060;NT GT ./. 1 216259061 rs372074590 AGT A 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;Gene=USH2A/NM_206933.2/1;CC=c.4988-844_4988-843delAC;VC=Intron;Gene=LOC102723833/NR_125992.1/0;VC=NonCoding;Gene=LOC102723833/NR_125993.1/0;VC=NonCoding;DM=USH2A/Laminin_G_2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AGT,A:4:3:0:3:1,3:35,89:0.00,9.35:0.00,3.05:0.00,6.30:0.00,0.85:0.00,0.99:0.00,0.85:60,60:0.0,13.3:0,0:0,0:117,96:34,55:0,16:-,NM_206933.2(USH2A) c.4988-844_4988-843delAC:-,NOT_FOUND:-,NOT_FOUND 1 216260163 . C . . NT END=216262354;NT GT ./. 1 216262482 . C . . NT END=216270424;NT GT ./. 1 216270556 . C . . NT END=216347287;NT GT ./. 1 216347452 rs401269 C A 91 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.8055,A/0.1945;Gene=USH2A/NM_206933.2/1;CC=c.4627+1142G>T;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.*1128G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:67:41:0:0:30,36,1:966,1186,9:91.19,0.00,-0.12:46.66,0.00,-0.01:44.52,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.9,9.9,87.0:0,0,0:0,0,0:72,84,51:73,56,94:35,41,0:NM_206933.2(USH2A) c.4627+1142G>T,-:0.19,-:NOT_FOUND,- 1 216347556 rs439940 A G 104 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.8047,G/0.1953;Gene=USH2A/NM_206933.2/1;CC=c.4627+1038T>C;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.*1024T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:80:53:0:0:45,1,33,1:1452,12,1111,8:0.00,-0.05,103.74,-0.16:0.00,-0.14,55.18,-0.07:0.00,0.09,48.55,-0.09:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:1.8,89.0,50.2,153.0:0,0,0,0:0,0,0,0:59,17,68,111:82,133,83,40:27,0,28,0:-,NM_206933.2(USH2A) c.4627+1038T>C:-,0.19:-,NOT_FOUND 1 216348764 rs1805049 C T 182 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.3377,T/0.6623;Gene=USH2A/NM_206933.2/1;CC=c.4457G>A;ProtCh=p.R1486K;VC=Missense;Gene=USH2A/NM_007123.5/0;CC=c.4457G>A;ProtCh=p.R1486K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:109:52:0:0:51,58:1643,1870:0.00,181.95:0.00,57.54:0.00,124.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,41.1:0,0:0,0:65,67:84,82:26,30:-,NM_206933.2(USH2A) c.=:-,0.67:-,0.606412 1 216348825 . C . . NT END=216363564;NT GT ./. 1 216363710 . C . . NT END=216369894;NT GT ./. 1 216363840 . G GT 14 idl,rn VT=INS;SST=Single;DP=21;NP=2;Gene=USH2A/NM_206933.2/1;CC=c.4252-132dupA;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.4252-132dupA;VC=Intron;DM=USH2A/fn3;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:G,T,GT,D:18:0:7:3:11,1,5,1:363,12,211,62:0.00,0.26,13.77,2.13:0.00,0.00,0.00,0.00:0.00,0.26,13.77,2.13:0.00,0.00,0.85,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.85,0.00:60,60,60,60:9.9,23.0,55.4,0.0:0,0,2,1:0,0,0,0:89,16,37,52:61,135,114,98:33,0,12,36:-,NM_206933.2(USH2A) c.4252-132_4252-131insA:-,NOT_FOUND:-,NOT_FOUND 1 216370065 . C . . NT END=216371656;NT GT ./. 1 216370108 rs447102 C T 83 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.8355,T/0.1645;Gene=USH2A/NM_206933.2/1;CC=c.4082-44G>A;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.4082-44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:18:0:0:20,27:634,842:0.00,83.09:0.00,17.11:0.00,65.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.3,65.6:0,0:0,0:102,95:36,44:20,24:-,NM_206933.2(USH2A) c.4082-44G>A:-,0.16:-,0.177099 1 216370130 rs386851 T G 119 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.0613,G/0.9387;Gene=USH2A/NM_206933.2/1;CC=c.4082-66A>C;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.4082-66A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:7:0:0:32:1040:119.21:18.33:100.87:1.00:1.00:1.00:60:64.5:0:0:108:40:22:NM_206933.2(USH2A) c.4082-66A>C,NM_206933.2(USH2A) c.4082-66A>C:0.92,0.92:NOT_FOUND,NOT_FOUND 1 216371927 . C . . NT END=216372968;NT GT ./. 1 216371934 rs646094 A C 93 nt VT=SNV;PN=A;NN=A;SST=Single;DP=78;DB;DBA=in-clinvar;PAF=A/0.8023,C/0.1977;PC=0.223;Gene=USH2A/NM_206933.2/1;CC=c.3812-8T>G;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.3812-8T>G;VC=Intron;DM=USH2A/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:78:27:0:0:48,30:1513,1008:0.00,92.54:0.00,14.76:0.00,77.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,33.6:0,0:0,0:102,90:48,58:33,29:-,NM_206933.2(USH2A) c.3812-8T>G:-,0.2:-,0.209166 1 216372716 . A AT 15 nt VT=INS;SST=Single;DP=11;PC=1.000;Gene=USH2A/NM_206933.2/1;CC=c.3811+252dupA;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.3811+252dupA;VC=Intron;DM=USH2A/fn3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,AT:11:11:5:0:6,5:175,155:0.00,14.60:0.00,14.60:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.2,39.2:0,0:0,0:45,30:105,120:15,26:-,NM_206933.2(USH2A) c.3811+252_3811+253insA:-,NOT_FOUND:-,NOT_FOUND 1 216373464 . C . . NT END=216380614;NT GT ./. 1 216373476 rs376363548 G GA 24 idl,rn VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=3;PC=0.003;Gene=USH2A/NM_206933.2/1;CC=c.3317-14dupT;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.3317-14dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G,GA,D:72:36:12:4:2,57,10,3:18,1765,383,129:-0.30,0.00,24.09,5.84:-0.20,0.00,9.13,2.93:-0.10,0.00,14.96,2.90:0.00,0.00,0.98,0.00:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:60,60,60,60:59.5,24.2,22.4,0.0:0,0,2,1:0,0,0,0:58,95,75,68:87,55,64,59:39,29,20,18:-,NM_206933.2(USH2A) c.3317-14_3317-13insT:-,NOT_FOUND:-,NOT_FOUND 1 216380774 . C . . NT END=216390728;NT GT ./. 1 216390475 rs419767 C T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.01278,T/0.9872;Gene=USH2A/NM_206933.2/1;CC=c.3157+254G>A;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.3157+254G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:175:19.88:19.88:0.00:1.00:1.00:0.00:60:37.6:0:0:41:108:20:NM_206933.2(USH2A) c.3157+254G>A,NM_206933.2(USH2A) c.3157+254G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 216390694 rs1324330 C T 131 nt VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.4125,T/0.5875;Gene=USH2A/NM_206933.2/1;CC=c.3157+35G>A;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.3157+35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:72:0:0:37,42:1239,1350:0.00,131.34:0.00,105.70:0.00,25.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,37.3:0,0:0,0:54,47:96,94:30,23:-,NM_206933.2(USH2A) c.3157+35G>A:-,0.6:-,0.522913 1 216390893 . C . . NT END=216405294;NT GT ./. 1 216405479 . C . . NT END=216419926;NT GT ./. 1 216420569 . C . . NT END=216424244;NT GT ./. 1 216424441 . C . . NT END=216462621;NT GT ./. 1 216462753 . C . . NT END=216465516;NT GT ./. 1 216465713 . C . . NT END=216495224;NT GT ./. 1 216495191 rs7515253 T G 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7364,G/0.2636;Gene=USH2A/NM_206933.2/1;CC=c.1644+34A>C;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.1644+34A>C;VC=Intron;DM=USH2A/Laminin_EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:40:35:0:0:27,13:889,393:90.82,0.00:78.15,0.00:12.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,10.9:0,1:0,0:44,35:107,115:27,25:NM_206933.2(USH2A) c.1644+34A>C,-:0.26,-:0.282254,- 1 216495319 . C . . NT END=216496815;NT GT ./. 1 216495400 rs2089947 A G 63 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.7434,G/0.2566;Gene=USH2A/NM_206933.2/1;CC=c.1551-82T>C;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.1551-82T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:9:0:0:18,19:557,652:0.00,63.16:0.00,6.64:0.00,56.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,35.8:0,0:0,0:108,86:42,63:35,34:-,NM_206933.2(USH2A) c.1551-82T>C:-,0.25:-,NOT_FOUND 1 216496947 rs1805050 G A 81 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=57;DB;DBA=in-clinvar;PAF=G/0.737,A/0.263;PC=0.051;Gene=USH2A/NM_206933.2/1;CC=c.1419C>T;ProtCh=p.T473=;VC=Silent;Gene=USH2A/NM_007123.5/0;CC=c.1419C>T;ProtCh=p.T473=;VC=Silent;DM=USH2A/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:42:0:0:25,32:860,1007:80.96,0.00:41.29,0.00:39.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,2.1:0,0:0,0:59,86:84,64:28,35:NM_206933.2(USH2A) c.1419C>T (p.(=)),-:0.26,-:0.295479,- 1 216497038 . C . . NT END=216497509;NT GT ./. 1 216497695 . C . . NT END=216498646;NT GT ./. 1 216498942 . C . . NT END=216500932;NT GT ./. 1 216500830 rs1339963 G C 40 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.641,C/0.359;PC=0.002;Gene=USH2A/NM_206933.2/1;CC=c.848+103C>G;VC=Intron;Gene=USH2A/NM_007123.5/0;CC=c.848+103C>G;VC=Intron;DM=USH2A/Laminin_G_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:18:0:0:12,8:405,243:40.38,0.00:38.42,0.00:1.96,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:40.2,5.0:0,0:0,0:46,50:104,100:41,38:NM_206933.2(USH2A) c.848+103C>G,-:0.34,-:NOT_FOUND,- 1 216500997 . C . . NT END=216538294;NT GT ./. 1 216538428 . C . . NT END=216591855;NT GT ./. 1 216592003 rs4253963 T C 106 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=in-clinvar;PAF=T/0.3672,C/0.6328;Gene=USH2A/NM_206933.2/1;CC=c.504A>G;ProtCh=p.T168=;VC=Silent;Gene=USH2A/NM_007123.5/0;CC=c.504A>G;ProtCh=p.T168=;VC=Silent;DM=USH2A/Laminin_G_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:47:0:0:35,40:1119,1327:106.10,0.00:47.75,0.00:58.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,8.2:0,0:0,0:83,87:63,62:29,27:NM_206933.2(USH2A) c.504A>G (p.(=)),-:0.65,-:0.59634,- 1 216592022 . C . . NT END=216595193;NT GT ./. 1 216595306 rs10779261 C T 245 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=154;DB;DBA=in-clinvar;PAF=C/0.2388,T/0.7612;PC=0.030;Gene=USH2A/NM_206933.2/1;CC=c.373G>A;ProtCh=p.A125T;VC=Missense;Gene=USH2A/NM_007123.5/0;CC=c.373G>A;ProtCh=p.A125T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:154:118:0:0:72,1,81:2432,10,2526:0.00,-0.13,245.24:0.00,-0.06,146.95:0.00,-0.06,98.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.1,48.0,36.8:0,0,0:0,0,0:67,113,63:80,10,84:39,0,40:-,NM_206933.2(USH2A) c.373G>A (p.Ala125Thr):-,0.76:-,0.718976 1 216595679 . G . . NT END=216680273;NT GT ./. 1 216680526 . C . . NT END=216692493;NT GT ./. 1 216689978 rs3934345 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=18;NP=31;NP=64;Gene=ESRRG/NM_001243515.1/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.1168+2516A>G;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.1132+2516A>G;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.946+2516A>G;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.577+2516A>G;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.379+2516A>G;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.1063+2516A>G;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.1063+2516A>G;VC=Intron;DM=ESRRG/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:C,T,D:5:4:0:1:2,2,1:70,32,33:6.73,0.00,2.89:5.10,0.00,2.98:1.63,0.00,-0.09:0.46,0.00,0.00:0.87,0.00,0.00:0.70,0.00,0.00:60,60,60:60.0,34.5,0.0:0,0,0:0,0,0:41,95,21:66,39,129:0,50,0:NM_001134285.2(ESRRG) c.1063+2516A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 216692669 rs945453 C T 96 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.3674,T/0.6326;PC=0.010;Gene=ESRRG/NM_001243515.1/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243518.1/0;CC=c.993G>A;ProtCh=p.S331=;VC=Silent;Gene=ESRRG/NM_001243519.1/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001438.3/0;CC=c.957G>A;ProtCh=p.S319=;VC=Silent;Gene=ESRRG/NM_001243514.1/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243512.1/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243513.1/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243507.1/0;CC=c.771G>A;ProtCh=p.S257=;VC=Silent;Gene=ESRRG/NM_001243509.1/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243506.1/0;CC=c.402G>A;ProtCh=p.S134=;VC=Silent;Gene=ESRRG/NM_206594.2/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_206595.2/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243505.1/0;CC=c.204G>A;ProtCh=p.S68=;VC=Silent;Gene=ESRRG/NM_001134285.2/1;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243510.2/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;Gene=ESRRG/NM_001243511.2/0;CC=c.888G>A;ProtCh=p.S296=;VC=Silent;DM=ESRRG/Hormone_recep;DM=ESRRG/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:39:0:0:33,33:996,1006:0.00,96.43:0.00,45.22:0.00,51.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,44.7:0,0:0,0:68,79:79,72:30,43:-,NM_001134285.2(ESRRG) c.888G>A (p.(=)):-,0.61:-,0.498078 1 216692764 . C . . NT END=216737560;NT GT ./. 1 216737744 . C . . NT END=216741329;NT GT ./. 1 216737861 rs11117622 G T 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8666,T/0.1334;PC=0.001;Gene=ESRRG/NM_001243515.1/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.716-118C>A;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.701-139C>A;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.515-139C>A;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.146-139C>A;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-53-139C>A;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.632-139C>A;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.632-139C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:0:0:0:10,11:321,364:0.00,35.35:0.00,0.00:0.00,35.35:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.3,33.1:0,0:0,0:85,101:64,50:12,23:-,NM_001134285.2(ESRRG) c.632-139C>A:-,0.16:-,NOT_FOUND 1 216741441 . C . . NT END=216824314;NT GT ./. 1 216795951 rs147309378 T C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8704,C/0.1296;DB;DBA=NA;PAF=NA;Gene=ESRRG/NM_001243515.1/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.604+28364A>G;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.589+28364A>G;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.403+54467A>G;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.34+28364A>G;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-164-54511A>G;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.520+28364A>G;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.520+28364A>G;VC=Intron;DM=ESRRG/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:2:0:0:3,1:94,33:9.85,0.00:3.45,0.00:6.40,0.00:0.85,0.00:0.95,0.00:0.99,0.00:60,60:63.3,0.0:0,0:0,0:99,48:52,92:0,0:NM_001134285.2(ESRRG) c.520+28364A>G,-:0.15,-:NOT_FOUND,- 1 216795960 rs945451 G A 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2446,A/0.7554;Gene=ESRRG/NM_001243515.1/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.604+28355C>T;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.589+28355C>T;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.403+54458C>T;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.34+28355C>T;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-164-54520C>T;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.520+28355C>T;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.520+28355C>T;VC=Intron;DM=ESRRG/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:2:0:0:3,1:85,36:8.95,0.00:1.63,0.00:7.32,0.00:0.85,0.00:0.95,0.00:0.85,0.00:60,60:63.3,0.0:1,0:0,0:108,57:43,83:0,0:NM_001134285.2(ESRRG) c.520+28355C>T,-:0.76,-:NOT_FOUND,- 1 216824432 . C . . NT END=216850417;NT GT ./. 1 216824505 rs10863261 C G 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8664,G/0.1336;Gene=ESRRG/NM_001243515.1/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.488-74G>C;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.473-74G>C;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.403+25913G>C;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-83-74G>C;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-164-83065G>C;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.404-74G>C;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.404-74G>C;VC=Intron;DM=ESRRG/zf-C4;DM=ESRRG/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:23:6:0:0:1,9,12,1:12,314,401,7:0.29,0.00,39.55,-0.00:-0.02,0.00,9.12,-0.02:0.31,0.00,30.43,0.02:0.00,0.00,1.00,0.00:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:60,60,60,60:12.0,12.3,44.0,47.0:0,0,0,0:0,0,0,0:4,119,102,75:147,32,49,75:0,24,32,0:-,NM_001134285.2(ESRRG) c.404-74G>C:-,0.16:-,NOT_FOUND 1 216850238 rs7515047 T G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8658,G/0.1342;Gene=ESRRG/NM_001243515.1/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.487+180A>C;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.472+180A>C;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-83-25807A>C;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-164-108798A>C;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.403+180A>C;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.403+180A>C;VC=Intron;DM=ESRRG/zf-C4;DM=ESRRG/zf-C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:G,T:5:5:0:0:3,2:98,59:9.77,0.00:9.77,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:32.7,5.5:0,0:0,0:30,9:120,141:19,2:NM_001134285.2(ESRRG) c.403+180A>C,-:0.16,-:NOT_FOUND,- 1 216850834 . C . . NT END=216880700;NT GT ./. 1 216851005 rs11117657 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8423,C/0.1577;Gene=ESRRG/NM_001243515.1/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.72-172A>G;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.57-172A>G;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-83-26574A>G;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-164-109565A>G;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-13-172A>G;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-13-172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:11:0:0:0:3,8:106,237:9.23,0.00:0.00,0.00:9.23,0.00:0.60,0.00:0.00,0.00:0.60,0.00:60,60:63.3,12.6:0,0:0,0:121,119:30,31:14,27:NM_001134285.2(ESRRG) c.-13-172A>G,-:0.18,-:NOT_FOUND,- 1 216865654 rs112098506 ATGTGTG A 15 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=69;PC=0.021;Gene=ESRRG/NM_001243515.1/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.72-14827_72-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.57-14827_57-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-83-41229_-83-41224delCACACA;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-164-124220_-164-124215delCACACA;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-13-14827_-13-14822delCACACA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:5:0:5:4:166:14.72:9.15:5.57:0.96:0.96:0.99:60:0.0:1:0:61:90:15:NM_001134285.2(ESRRG) c.-13-14827_-13-14822delCACACA,NM_001134285.2(ESRRG) c.-13-14827_-13-14822delCACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 216880662 rs11572672 G A 96 nt VT=SNV;PN=T;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.8474,A/0.1526;Gene=ESRRG/NM_001243515.1/0;CC=c.-14+7196C>T;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.71+39C>T;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.-14+7196C>T;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.56+15924C>T;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.-14+7754C>T;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-83-56231C>T;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-164-139222C>T;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-13-29829C>T;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-13-29829C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:56:0:0:32,35:1011,1047:96.20,0.00:70.70,0.00:25.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.2,9.2:0,0:0,0:44,43:91,95:24,25:NM_001134285.2(ESRRG) c.-13-29829C>T,-:0.14,-:NOT_FOUND,- 1 216880829 . C . . NT END=216887857;NT GT ./. 1 216887977 . C . . NT END=216888415;NT GT ./. 1 216888592 . C . . NT END=216896581;NT GT ./. 1 216896444 rs2813709 A G 60 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.02875,G/0.9712;PC=1.000;Gene=ESRRG/NM_001243515.1/0;CC=c.-309+142T>C;VC=Intron;Gene=ESRRG/NM_001243518.1/0;CC=c.-58+142T>C;VC=Intron;Gene=ESRRG/NM_001243519.1/0;CC=c.-309+138T>C;VC=Intron;Gene=ESRRG/NM_001438.3/0;CC=c.56+142T>C;VC=Intron;Gene=ESRRG/NM_001243514.1/0;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_001243512.1/0;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.-189-7853T>C;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-83-72013T>C;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-165+141959T>C;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-13-45611T>C;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-13-45611T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:17:0:0:17:515:59.55:59.55:0.00:1.00:1.00:0.00:60:45.8:0:0:62:81:38:NM_001134285.2(ESRRG) c.-13-45611T>C,NM_001134285.2(ESRRG) c.-13-45611T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 216896642 . G . . NT END=217604503;NT GT ./. 1 217076770 rs71753375 AGTGT A 18 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.005;Gene=ESRRG/NM_001243512.1/0;CC=c.-132+33230_-132+33233delACAC;VC=Intron;Gene=ESRRG/NM_001243513.1/0;CC=c.-190+36150_-190+36153delACAC;VC=Intron;Gene=ESRRG/NM_001243507.1/0;CC=c.-131-38254_-131-38251delACAC;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-14+36150_-14+36153delACAC;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-84+36150_-84+36153delACAC;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-132+36150_-132+36153delACAC;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-14+36150_-14+36153delACAC;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-283+36150_-283+36153delACAC;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-14+36150_-14+36153delACAC;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-132+36150_-132+36153delACAC;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-14+36150_-14+36153delACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:AGTGT,A:6:5:0:5:1,5:35,167:0.00,17.91:0.00,8.91:0.00,9.01:0.00,0.99:0.00,1.00:0.00,1.00:19,60:0.0,12.8:0,0:0,0:15,69:31,67:0,16:-,NM_001134285.2(ESRRG) c.-14+36150_-14+36153delACAC:-,NOT_FOUND:-,NOT_FOUND 1 217194419 rs71556671 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=123;PC=0.001;Gene=ESRRG/NM_001243507.1/0;CC=c.-603-20353A>G;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-577-20353A>G;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-176+68430A>G;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-224+68430A>G;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-106+68430A>G;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-375+68710A>G;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-229-61392A>G;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-223-81404A>G;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-105-81404A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:3:0:0:3,1:103,34:10.75,0.00:5.03,0.00:5.73,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,60:133.7,12.0:0,0:0,0:77,84:74,67:30,0:NM_001134285.2(ESRRG) c.-229-61392A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 217194451 rs12724974 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.878,T/0.122;PC=0.001;Gene=ESRRG/NM_001243507.1/0;CC=c.-603-20385G>A;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-577-20385G>A;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-176+68398G>A;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-224+68398G>A;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-106+68398G>A;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-375+68678G>A;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-229-61424G>A;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-223-81436G>A;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-105-81436G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:3:0:0:1,3:34,101:0.00,10.55:0.00,4.98:0.00,5.58:0.00,0.85:0.00,0.99:0.00,0.95:60,60:12.0,64.3:0,0:0,0:116,97:35,42:0,12:-,NM_001134285.2(ESRRG) c.-229-61424G>A:-,0.17:-,NOT_FOUND 1 217215958 rs11117756 C T 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6983,T/0.3017;PC=0.002;Gene=ESRRG/NM_001243507.1/0;CC=c.-604+34236G>A;VC=Intron;Gene=ESRRG/NM_001243509.1/0;CC=c.-578+34236G>A;VC=Intron;Gene=ESRRG/NM_001243506.1/0;CC=c.-176+46891G>A;VC=Intron;Gene=ESRRG/NM_206594.2/0;CC=c.-224+46891G>A;VC=Intron;Gene=ESRRG/NM_206595.2/0;CC=c.-106+46891G>A;VC=Intron;Gene=ESRRG/NM_001243505.1/0;CC=c.-375+47171G>A;VC=Intron;Gene=ESRRG/NM_001134285.2/1;CC=c.-229-82931G>A;VC=Intron;Gene=ESRRG/NM_001243510.2/0;CC=c.-224+95051G>A;VC=Intron;Gene=ESRRG/NM_001243511.2/0;CC=c.-106+95051G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,T:6:1:0:0:3,3:81,102:0.00,9.83:0.00,-0.30:0.00,10.13:0.00,0.73:0.00,0.67:0.00,0.96:60,60:50.3,34.0:0,0:0,0:142,98:1,53:8,20:-,NM_001134285.2(ESRRG) c.-229-82931G>A:-,0.31:-,NOT_FOUND 1 217604708 . C . . NT END=217622590;NT GT ./. 1 217622680 . C . . NT END=217665013;NT GT ./. 1 217646622 rs373725874 AGT A 14 sb,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=99;Gene=GPATCH2/NM_018040.3/1;CC=c.1277+18398_1277+18399delAC;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AGT,A:5:2:0:4:1,4:34,128:0.00,13.62:0.00,1.49:0.00,12.13:0.00,0.96:0.00,0.97:0.00,0.96:60,60:125.0,17.0:0,0:0,0:66,69:84,81:0,2:-,NM_018040.2(GPATCH2) c.1277+18398_1277+18399delAC:-,NOT_FOUND:-,NOT_FOUND 1 217665093 . C . . NT END=217668356;NT GT ./. 1 217665204 rs386354606 CTT C 15 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.005;Gene=GPATCH2/NM_018040.3/1;CC=c.1207-114_1207-113delAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:CTT,C:7:0:0:8:2,5:64,241:0.00,15.18:0.00,0.00:0.00,15.18:0.00,0.95:0.00,0.00:0.00,0.95:60,60:14.5,32.2:0,3:0,0:140,93:10,52:8,30:-,NM_018040.2(GPATCH2) c.1207-114_1207-113delAA:-,NOT_FOUND:-,NOT_FOUND 1 217668418 . C . . NT END=217671697;NT GT ./. 1 217671738 . C . . NT END=217688163;NT GT ./. 1 217671771 rs724803 C G 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.774,G/0.226;Gene=GPATCH2/NM_018040.3/1;CC=c.1167-34G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:34:19:0:0:20,14:627,457:0.00,42.36:0.00,22.12:0.00,20.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,41.6:0,0:0,0:102,93:48,55:24,20:-,NM_018040.2(GPATCH2) c.1167-34G>C:-,0.24:-,0.269183 1 217688232 . C . . NT END=217781530;NT GT ./. 1 217688408 rs17046538 C T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3978,T/0.6022;Gene=GPATCH2/NM_018040.3/1;CC=c.1099-177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:220:25.34:0.00:25.34:1.00:0.00:1.00:60:37.0:0:0:106:44:11:NM_018040.2(GPATCH2) c.1099-177G>A,NM_018040.2(GPATCH2) c.1099-177G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 217697089 rs202005140 C T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=131;Gene=GPATCH2/NM_018040.3/1;CC=c.1099-8858G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:3:0:0:2,2:69,67:0.00,6.45:0.00,3.07:0.00,3.38:0.00,0.51:0.00,0.89:0.00,0.89:40,43:33.0,89.0:0,0:0,0:75,58:43,92:68,24:-,NM_018040.2(GPATCH2) c.1099-8858G>A:-,NOT_FOUND:-,NOT_FOUND 1 217781558 rs397701514 GA G 62 rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=GA/0.751,G/0.249;DB;DBA=NA;PAF=GA/0.751,G/0.249;NP=398;Gene=GPATCH2/NM_018040.3/1;CC=c.1098+2104delT;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.*1943delT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,GA,I,G:44:32:1:20:3,1,19,1,20:52,14,559,26,638:2.88,0.23,0.00,1.26,61.52:-0.41,0.29,0.00,-0.14,42.14:3.29,-0.06,0.00,1.40,19.37:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:40.3,51.0,18.9,25.0,3.3:0,0,0,0,0:0,0,0,0,0:54,140,84,24,55:97,10,67,127,94:19,0,32,0,20:-,NM_018040.2(GPATCH2) c.1098+2104delT:-,NOT_FOUND:-,NOT_FOUND 1 217782273 rs4147127 T C 281 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.5168,C/0.4832;Gene=GPATCH2/NM_018040.3/1;CC=c.1098+1390A>G;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.*1229A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:41:0:0:74:2461:281.29:133.56:147.73:1.00:1.00:1.00:60:38.4:0:0:74:76:36:NM_018040.2(GPATCH2) c.1098+1390A>G,NM_018040.2(GPATCH2) c.1098+1390A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 1 217782714 rs17723255 A C 163 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.9726,C/0.02736;PC=0.089;Gene=GPATCH2/NM_018040.3/1;CC=c.1098+949T>G;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.*788T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:96:51:0:0:43,53:1420,1661:0.00,162.61:0.00,70.10:0.00,92.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,41.5:0,0:0,0:90,67:58,84:42,28:-,NM_018040.2(GPATCH2) c.1098+949T>G:-,0.03:-,NOT_FOUND 1 217782894 rs35031000 A AG 94 PASS VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.861,AG/0.139;NP=265;PC=1.000;Gene=GPATCH2/NM_018040.3/1;CC=c.1098+768_1098+769insC;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.*607_*608insC;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AG:61:44:31:0:30,31:1004,972:0.00,93.62:0.00,63.26:0.00,30.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,5.8:0,0:0,0:75,73:59,78:40,32:-,NM_018040.2(GPATCH2) c.1098+768_1098+769insC:-,0.16:-,NOT_FOUND 1 217783535 . C . . NT END=217783662;NT GT ./. 1 217783743 . C . . NT END=217784230;NT GT ./. 1 217783810 rs12749938 C T 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7524,T/0.2476;Gene=GPATCH2/NM_018040.3/1;CC=c.1019-68G>A;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.1019-68G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:7:0:0:6,7:195,221:0.00,21.54:0.00,4.37:0.00,17.17:0.00,0.99:0.00,0.99:0.00,1.00:60,60:5.5,49.3:0,0:0,0:128,74:21,75:11,22:-,NM_018040.2(GPATCH2) c.1019-68G>A:-,0.25:-,NOT_FOUND 1 217784092 rs17723306 A G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9383,G/0.0617;Gene=GPATCH2/NM_018040.3/1;CC=c.1018+139T>C;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.1018+139T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:19:0:0:8,11:261,371:0.00,36.73:0.00,36.73:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,35.4:0,0:0,0:42,55:107,96:23,40:-,NM_018040.2(GPATCH2) c.1018+139T>C:-,0.06:-,NOT_FOUND 1 217784414 . C . . NT END=217787482;NT GT ./. 1 217784729 rs71556691 GCTTCA G 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GCTTCA/0.7522,G/0.2478;DB;DBA=NA;PAF=GCTTCA/0.7522,G/0.2478;DB;DBA=NA;PAF=GCTTCA/0.7522,G/0.2478;NP=20;Gene=GPATCH2/NM_018040.3/1;CC=c.836-321_836-317delTGAAG;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.836-321_836-317delTGAAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GCTTCA,G:4:0:0:3:1,3:35,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,0.0:0,0:0,0:69,104:82,47:0,25:-,NM_018040.2(GPATCH2) c.836-321_836-317delTGAAG:-,0.25:-,NOT_FOUND 1 217787545 . C . . NT END=217793124;NT GT ./. 1 217787730 rs17666909 T G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9722,G/0.02776;PC=1.000;Gene=GPATCH2/NM_018040.3/1;CC=c.774-186A>C;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.774-186A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:G,T:8:0:0:0:3,5:101,164:9.23,0.00:0.00,0.00:9.23,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:33.7,30.2:0,0:0,0:115,93:36,58:5,42:NM_018040.2(GPATCH2) c.774-186A>C,-:0.03,-:NOT_FOUND,- 1 217787816 rs6666508 C T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=1.000;Gene=GPATCH2/NM_018040.3/1;CC=c.774-272G>A;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.774-272G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T:5:0:0:0:2,3:71,86:0.00,8.57:0.00,0.00:0.00,8.57:0.00,0.78:0.00,0.00:0.00,0.78:60,60:33.0,40.0:0,0:0,0:85,115:65,36:44,33:-,NM_018040.2(GPATCH2) c.774-272G>A:-,0.25:-,NOT_FOUND 1 217793842 . C . . NT END=217804257;NT GT ./. 1 217793938 rs397736649 T TTAA 51 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.7857,TTAA/0.2143;DB;DBA=NA;PAF=T/0.7857,TTAA/0.2143;DB;DBA=NA;PAF=T/0.7857,TTAA/0.2143;NP=526;PC=0.125;Gene=GPATCH2/NM_018040.3/1;CC=c.57-100_57-98dupTTA;VC=Intron;Gene=GPATCH2/NM_001297754.1/0;CC=c.57-100_57-98dupTTA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTAA:32:2:17:0:15,17:437,526:0.00,51.12:0.00,1.42:0.00,49.70:0.00,1.00:0.00,0.82:0.00,1.00:60,60:15.9,9.3:0,0:0,0:135,93:16,58:14,19:-,NM_018040.2(GPATCH2) c.57-98_57-97insTTA:-,0.22:-,NOT_FOUND 1 217804325 rs944730 G A 332 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.5164,A/0.4836,C/.;PC=0.956;Gene=GPATCH2/NM_018040.3/1;CC=c.-12C>T;VC=5UTR;Gene=GPATCH2/NM_001297754.1/0;CC=c.-12C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:87:64:0:0:87:2908:332.20:151.11:181.09:1.00:1.00:1.00:60:44.9:0:0:85:65:23:NM_018040.2(GPATCH2) c.-12C>T,NM_018040.2(GPATCH2) c.-12C>T:0.49,0.49:0.655309,0.655309 1 217804331 . C . . NT END=217804720;NT GT ./. 1 217804635 rs34121469 T C 110 nt VT=SNV;PN=G;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.7624,C/0.2376 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:59:0:0:32,30:1129,909:109.55,0.00:88.93,0.00:20.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,11.8:0,0:0,0:51,43:99,107:26,23:NM_018040.2(GPATCH2) c.-96-u226A>G,-:0.24,-:NOT_FOUND,- 1 217804789 . G . . NT END=217822223;NT GT ./. 1 217804955 rs10495062 T C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7546,C/0.2454;Gene=SPATA17/NM_138796.3/1;CC=c.68+167T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:17:0:0:0:6,11:171,347:15.15,0.00:0.00,0.00:15.15,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:33.8,3.2:0,0:0,0:97,95:54,55:16,31:NM_138796.2(SPATA17) c.68+167T>C,-:0.25,-:NOT_FOUND,- 1 217822314 . G . . NT END=217824438;NT GT ./. 1 217824521 . G . . NT END=217842374;NT GT ./. 1 217842129 rs6692477 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7782,G/0.2218;PC=1.000;Gene=SPATA17/NM_138796.3/1;CC=c.241-246A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:4:4:0:0:1,3:35,82:0.00,8.65:0.00,8.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,27.3:0,0:0,0:60,58:89,93:0,18:-,NM_138796.2(SPATA17) c.241-246A>G:-,0.22:-,NOT_FOUND 1 217842426 . G . . NT END=217856599;NT GT ./. 1 217842575 rs115200514 C A 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9756,A/0.02436;PC=0.764;Gene=SPATA17/NM_138796.3/1;CC=c.291+150C>A;VC=Intron;DM=SPATA17/IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,C:11:0:0:0:5,6:168,205:15.89,0.00:0.00,0.00:15.89,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.8,12.5:0,0:0,0:108,108:43,42:12,28:NM_138796.2(SPATA17) c.291+150C>A,-:0.03,-:NOT_FOUND,- 1 217856405 rs200395526 TA T 15 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.976,T/0.02396;Gene=SPATA17/NM_138796.3/1;CC=c.292-194delA;VC=Intron;DM=SPATA17/IQ;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:TA,T:7:7:0:5:2,5:61,149:0.00,15.46:0.00,15.46:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:19.0,18.8:0,0:0,0:82,49:68,102:8,30:-,NM_138796.2(SPATA17) c.292-194delA:-,0.04:-,NOT_FOUND 1 217856704 . G . . NT END=217915316;NT GT ./. 1 217856787 rs71301099 A AT 17 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8285,AT/0.1715;DB;DBA=NA;PAF=A/0.8285,AT/0.1715;NP=1548;PC=0.012;Gene=SPATA17/NM_138796.3/1;CC=c.395+91_395+92insT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,AT:15:1:6:0:9,6:283,187:0.00,17.18:0.00,-0.11:0.00,17.29:0.00,0.96:0.00,0.60:0.00,0.96:60,60:15.9,1.7:0,0:0,0:135,119:15,30:9,13:-,NM_138796.2(SPATA17) c.395+84_395+85insT:-,0.21:-,NOT_FOUND 1 217856803 rs12073566 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7794,C/0.2206;Gene=SPATA17/NM_138796.3/1;CC=c.395+100T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:C,T:10:0:0:0:5,5:139,144:13.28,0.00:0.00,0.00:13.28,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:32.6,2.0:0,0:0,0:88,127:63,23:37,19:NM_138796.2(SPATA17) c.395+100T>C,-:0.22,-:NOT_FOUND,- 1 217915441 . G . . NT END=217947675;NT GT ./. 1 217915593 rs12117870 G A 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6567,A/0.3433;PC=0.420;Gene=SPATA17/NM_138796.3/1;CC=c.519+153G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:0:0:0:9,10:267,302:25.30,0.00:0.00,0.00:25.30,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.9,7.8:0,0:0,0:70,81:81,69:21,26:NM_138796.2(SPATA17) c.519+153G>A,-:0.39,-:NOT_FOUND,- 1 217947495 rs6604560 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2682,A/0.7318;PC=0.011;Gene=SPATA17/NM_138796.3/1;CC=c.520-181G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,G:8:8:0:0:4,4:103,130:9.77,0.00:9.77,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:70.5,32.5:0,0:0,0:70,17:80,132:10,9:NM_138796.2(SPATA17) c.520-181G>A,-:0.76,-:NOT_FOUND,- 1 217947738 rs6604561 G A 112 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.2732,A/0.7268;PC=0.722;Gene=SPATA17/NM_138796.3/1;CC=c.582G>A;ProtCh=p.Q194=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:61:0:0:39,48:1196,1617:112.10,0.00:67.56,0.00:44.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,2.6:0,0:0,0:68,53:82,94:28,26:NM_138796.2(SPATA17) c.=,-:0.73,-:0.769183,- 1 217947880 . G . . NT END=217955515;NT GT ./. 1 217955355 rs397688204 ATAT A 52 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=ATAT/0.6867,A/0.3133;DB;DBA=NA;PAF=ATAT/0.6867,A/0.3133;NP=660;Gene=SPATA17/NM_138796.3/1;CC=c.724-157_724-155delTAT;VC=Intron;Gene=SPATA17-AS1/NR_125784.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAT,A:23:23:0:16:7,16:237,502:0.00,51.69:0.00,51.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.4,6.5:0,0:0,0:62,79:88,71:35,37:-,NM_138796.2(SPATA17) c.724-160_724-158delTAT:-,0.36:-,NOT_FOUND 1 217955665 . G . . NT END=217975059;NT GT ./. 1 217975193 . G . . NT END=218036115;NT GT ./. 1 217981688 . TAC T 10 sb,rn VT=DEL;SST=Single;DP=4;NP=7;PC=0.188;Gene=SPATA17/NM_138796.3/1;CC=c.1005+6531_1005+6532delAC;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TAC,T:4:4:0:3:1,3:33,100:0.00,10.45:0.00,8.93:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,11.0:0,0:0,0:49,44:90,86:0,21:-,NM_138796.2(SPATA17) c.1005+6497_1005+6498delAC:-,NOT_FOUND:-,NOT_FOUND 1 218023820 rs34846382 C CA 232 nt VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=3456;PC=1.000;Gene=SPATA17/NM_138796.3/1;CC=c.1006-12296_1006-12295insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A,C,CA:64:57:62:0:1,1,62:31,28,2049:1.78,0.00,232.12:1.78,0.00,178.78:0.00,0.00,53.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:31.0,0.0,3.7:0,0,0:0,0,0:1,150,36:146,1,113:0,0,27:NM_138796.2(SPATA17) c.1006-12296_1006-12295insA,NM_138796.2(SPATA17) c.1006-12296_1006-12295insA:1,1:NOT_FOUND,NOT_FOUND 1 218036197 . A . . NT END=218458658;NT GT ./. 1 218036237 rs6658846 T G 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7823,G/0.2177;PC=0.002;Gene=SPATA17/NM_138796.3/1;CC=c.*2+39T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:11:0:0:10,20:346,614:31.09,0.00:2.60,0.00:28.50,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:37.7,4.4:0,0:0,0:81,104:69,46:25,25:NM_138796.2(SPATA17) c.*2+39T>G,-:0.24,-:0.262527,- 1 218458798 . G . . NT END=218475635;NT GT ./. 1 218475533 rs2251169 C T 61 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6989,T/0.3011;Gene=RRP15/NM_016052.3/1;CC=c.140-103C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:18:0:0:18:529:61.42:61.42:0.00:1.00:1.00:0.00:60:35.4:0:0:37:114:15:NM_016052.3(RRP15) c.140-103C>T,NM_016052.3(RRP15) c.140-103C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 1 218475902 . G . . NT END=218478369;NT GT ./. 1 218478468 . G . . NT END=218480772;NT GT ./. 1 218480975 . G . . NT END=218504289;NT GT ./. 1 218504434 . A . . NT END=218520043;NT GT ./. 1 218520390 . G . . NT END=218536675;NT GT ./. 1 218536760 . G . . NT END=218578510;NT GT ./. 1 218578675 . G . . NT END=218607423;NT GT ./. 1 218578726 rs142802402 ACT A 24 idl,rn VT=DEL;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=270;Gene=TGFB2/NM_001135599.2/1;CC=c.594+69_594+70delCT;VC=Intron;Gene=TGFB2/NM_003238.3/0;CC=c.510+69_510+70delCT;VC=Intron;DM=TGFB2/TGFb_propeptide;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:ACT,C,T,A:97:38:0:13:83,3,1,10:2336,43,11,432:0.00,0.73,-0.23,24.10:0.00,-0.03,-0.09,7.57:0.00,0.76,-0.14,16.52:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.94:0.00,0.00,0.00,1.00:60,60,60,60:7.5,53.7,16.0,9.9:0,0,0,3:0,0,0,0:112,102,26,98:36,48,125,46:26,2,0,20:-,NM_001135599.2(TGFB2) c.594+53_594+54delCT:-,NOT_FOUND:-,NOT_FOUND 1 218607557 . G . . NT END=218607679;NT GT ./. 1 218607791 . G . . NT END=218609311;NT GT ./. 1 218609490 . G . . NT END=218610684;NT GT ./. 1 218610662 rs567623868 CT C 43 idl,rn VT=DEL;SST=Single;DP=87;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=70;PC=0.783;Gene=TGFB2/NM_001135599.2/1;CC=c.1017-6delT;VC=Intron;Gene=TGFB2/NM_003238.3/0;CC=c.933-6delT;VC=Intron;DM=TGFB2/TGF_beta;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:82:72:9:24:56,9,17:1827,277,648:0.00,20.48,42.88:0.00,13.23,24.05:0.00,7.25,18.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.7,46.8,43.9:0,0,5:0,0,0:62,43,76:63,100,65:35,29,17:-,NM_001135599.2(TGFB2) c.1017-22delT:-,NOT_FOUND:-,NOT_FOUND 1 218610839 . G . . NT END=218614545;NT GT ./. 1 218614705 . A . . NT END=219347232;NT GT ./. 1 218952610 . CGT C 13 sb,rn VT=DEL;SST=Single;DP=7;NP=9;Gene=MIR548F3/NR_031644.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CGT,C:6:5:0:5:2,4:66,163:0.00,13.20:0.00,1.30:0.00,11.90:0.00,0.90:0.00,0.98:0.00,0.90:60,60:9.5,0.0:0,1:0,0:130,51:20,99:4,14:-,chr1 g.218952611_218952612delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 219347647 . G . . NT END=219348276;NT GT ./. 1 219347790 rs1505257 T A 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3083,A/0.6917;PC=0.002;Gene=LYPLAL1/NM_001300769.1/0;CC=c.91+467T>A;VC=Intron;Gene=LYPLAL1/NM_001300770.1/1;CC=c.91+467T>A;VC=Intron;Gene=LYPLAL1/NM_138794.4/0;CC=c.91+467T>A;VC=Intron;Gene=LYPLAL1/NM_001300771.1/0;CC=c.-24+144T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:0:0:0:15,7:469,220:48.08,0.00:0.00,0.00:48.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.5,3.1:0,0:0,0:111,126:40,25:21,9:NM_138794.3(LYPLAL1) c.91+467T>A,-:0.69,-:NOT_FOUND,- 1 219348404 . G . . NT END=219352488;NT GT ./. 1 219352589 . G . . NT END=219366423;NT GT ./. 1 219366400 rs60036848 T TG 117 idl,rn VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.2544,G/0.002196;DB;DBA=NA;PAF=T/0.2544,TC/.,TG/0.7334,TGG/0.009984,TGGG/.,TT/.,TTG/.;PC=0.070;Gene=LYPLAL1/NM_001300769.1/0;CC=c.191+13821dupG;VC=Intron;Gene=LYPLAL1/NM_001300770.1/1;CC=c.192-63dupG;VC=Intron;Gene=LYPLAL1/NM_138794.4/0;CC=c.192-15dupG;VC=Intron;Gene=LYPLAL1/NM_001300771.1/0;CC=c.78-15dupG;VC=Intron;Gene=LYPLAL1/NM_001300772.1/0;CC=c.78-15dupG;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:49:48:42:0:12,37:322,1249:0.00,117.13:0.00,105.41:0.00,11.73:0.00,1.00:0.00,1.00:0.00,1.00:60,70:37.1,38.7:2,5:0,0:86,52:44,98:49,23:-,NM_138794.3(LYPLAL1) c.192-24_192-23insG:-,NOT_FOUND:-,NOT_FOUND 1 219366594 . G . . NT END=219383856;NT GT ./. 1 219366800 rs147155963 A AAT 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9798,AAT/0.02017;NP=5;PC=0.474;Gene=LYPLAL1/NM_001300769.1/0;CC=c.191+14214_191+14215dupTA;VC=Intron;Gene=LYPLAL1/NM_001300770.1/1;CC=c.313+209_313+210dupTA;VC=Intron;Gene=LYPLAL1/NM_138794.4/0;CC=c.361+209_361+210dupTA;VC=Intron;Gene=LYPLAL1/NM_001300771.1/0;CC=c.247+209_247+210dupTA;VC=Intron;Gene=LYPLAL1/NM_001300772.1/0;CC=c.247+209_247+210dupTA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,AAT:5:0:3:0:2,3:66,97:0.00,9.67:0.00,0.00:0.00,9.67:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,0.0:0,0:0,0:98,33:52,118:22,0:-,NM_138794.3(LYPLAL1) c.361+207_361+208insAT:-,0.01:-,NOT_FOUND 1 219383848 rs5781096 A ACTTTTT 38 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.03854,ACTTCTT/.,ACTTTTT/0.9615;NP=12;Gene=LYPLAL1/NM_001300769.1/0;CC=c.192-4_192-3insTCTTTT;VC=Intron;Gene=LYPLAL1/NM_001300770.1/1;CC=c.314-21_314-20insTCTTTT;VC=Intron;Gene=LYPLAL1/NM_138794.4/0;CC=c.362-21_362-20insTCTTTT;VC=Intron;Gene=LYPLAL1/NM_001300771.1/0;CC=c.248-21_248-20insTCTTTT;VC=Intron;Gene=LYPLAL1/NM_001300772.1/0;CC=c.248-21_248-20insTCTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,ACTTTTT:13:12:11:0:2,11:59,353:0.00,38.12:0.00,32.52:0.00,5.61:0.00,1.00:0.00,1.00:0.00,0.98:60,60:0.0,68.4:0,0:0,0:141,62:5,87:4,36:-,NM_138794.3(LYPLAL1) c.362-26_362-25insCTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 219383867 rs940571 T C 63 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.03974,C/0.9603;PC=0.522;Gene=LYPLAL1/NM_001300769.1/0;CC=c.202T>C;ProtCh=p.F68L;VC=Missense;Gene=LYPLAL1/NM_001300770.1/1;CC=c.314-7T>C;VC=Intron;Gene=LYPLAL1/NM_138794.4/0;CC=c.362-7T>C;VC=Intron;Gene=LYPLAL1/NM_001300771.1/0;CC=c.248-7T>C;VC=Intron;Gene=LYPLAL1/NM_001300772.1/0;CC=c.248-7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:14:0:0:17:550:63.06:48.80:14.26:1.00:1.00:1.00:60:73.2:0:0:33:117:20:NM_138794.3(LYPLAL1) c.362-7T>C,NM_138794.3(LYPLAL1) c.362-7T>C:0.96,0.96:0.959699,0.959699 1 219383905 rs940570 A G 107 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.03674,G/0.9633;PC=1.000;Gene=LYPLAL1/NM_001300769.1/0;CC=c.240A>G;ProtCh=p.I80M;VC=Missense;Gene=LYPLAL1/NM_001300770.1/1;CC=c.345A>G;ProtCh=p.I115M;VC=Missense;Gene=LYPLAL1/NM_138794.4/0;CC=c.393A>G;ProtCh=p.I131M;VC=Missense;Gene=LYPLAL1/NM_001300771.1/0;CC=c.279A>G;ProtCh=p.I93M;VC=Missense;Gene=LYPLAL1/NM_001300772.1/0;CC=c.279A>G;ProtCh=p.I93M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:22:0:0:28:941:107.45:66.78:40.67:1.00:1.00:1.00:60:58.9:0:0:42:103:22:NM_138794.3(LYPLAL1) c.=,NM_138794.3(LYPLAL1) c.=:0.97,0.97:0.964549,0.964549 1 219383990 . G . . NT END=219384833;NT GT ./. 1 219385071 . A . . NT END=220088790;NT GT ./. 1 219390751 rs71521191 A T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.246,T/0.754;NP=280;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,T:6:4:0:0:3,3:101,105:0.00,10.13:0.00,3.38:0.00,6.75:0.00,0.73:0.00,0.51:0.00,0.73:60,60:69.7,79.3:0,0:0,0:31,45:118,89:24,8:-,chr1 g.219390750A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 219390753 rs11118240 A T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.252,T/0.748;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,T:6:4:0:0:3,3:94,105:0.00,10.13:0.00,3.38:0.00,6.75:0.00,0.73:0.00,0.51:0.00,0.73:60,60:25.7,79.3:0,0:0,0:96,47:55,87:3,8:-,chr1 g.219390752A>T (intergenic):-,0.74:-,NOT_FOUND 1 219592936 rs71560576 C CACACACAGAGAGAG 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=120;NP=2;NP=24;NP=3;NP=5;NP=6;NP=7;NP=8;NP=9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,CACACACAGAGAGAG:5:3:3:0:2,3:69,99:0.00,9.87:0.00,5.33:0.00,4.54:0.00,0.78:0.00,0.94:0.00,0.78:60,70:71.5,34.3:0,0:0,0:130,77:5,73:6,22:-,chr1 g.219592936_219592937insACACACAGAGAGAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 219783279 rs2653989 T A 350 nt VT=SNV;PN=G;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=NA;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:154:73:0:0:109,45:3383,1397:349.78,0.00:119.55,0.00:230.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,3.4:0,0:0,0:108,56:43,90:22,35:chr1 g.219783278T>A (intergenic),-:0.49,-:NOT_FOUND,- 1 219783709 rs368783050 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6218,A/0.3782;NP=782;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:12:10:0:0:3,9:105,272:9.00,0.00:9.25,0.00:-0.25,0.00:0.59,0.00:0.91,0.00:0.53,0.00:27,27:35.0,0.0:0,0:0,0:44,108:106,43:9,33:chr1 g.219783708G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 219821067 rs4472763 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2556,T/0.7444 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:165:18.88:15.06:3.83:1.00:1.00:1.00:60:33.0:0:0:78:71:40:chr1 g.219821066C>T (intergenic),chr1 g.219821066C>T (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 1 219889972 rs4011941 T TTG 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3025,TTG/0.6975,TTGTG/.;DB;DBA=NA;PAF=T/0.3025,TTG/0.6975;DB;DBA=NA;PAF=NA;NP=2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TTG:5:3:3:0:2,3:67,87:0.00,8.67:0.00,4.48:0.00,4.19:0.00,0.78:0.00,0.94:0.00,0.97:60,60:6.0,0.0:0,0:0,0:111,54:40,95:10,41:-,chr1 g.219889972_219889973insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 219895916 rs61836286 A ATATG 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=227;NP=6;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATATG:4:3:3:0:1,3:33,89:0.00,9.35:0.00,6.20:0.00,3.15:0.00,0.85:0.00,0.99:0.00,0.95:60,70:49.0,37.3:0,0:0,0:19,106:113,44:0,20:-,chr1 g.219895916_219895917insTATG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 219921030 rs10672865 G GCA 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=131;NP=4;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,GCA:5:4:3:0:2,3:63,101:0.00,10.07:0.00,3.01:0.00,7.06:0.00,0.78:0.00,0.97:0.00,0.97:60,60:24.5,0.0:0,0:0,0:18,84:91,67:10,5:-,chr1 g.219921030_219921031insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 219961380 rs4846597 T G 9 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4493,G/0.5507 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:G,T:4:2:0:0:3,1:87,34:9.15,0.00:1.53,0.00:7.63,0.00:0.85,0.00:0.95,0.00:0.85,0.00:70,60:73.7,12.0:0,0:0,0:77,112:64,15:8,0:chr1 g.219961379T>G (intergenic),-:0.56,-:NOT_FOUND,- 1 220036638 rs538166997 C A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4437,A/0.5563;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,C:7:4:0:0:3,4:89,117:8.26,0.00:2.69,0.00:5.56,0.00:0.69,0.00:0.89,0.00:0.95,0.00:60,60:41.7,32.2:0,0:0,0:98,82:45,55:7,34:chr1 g.220036637C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 220089291 . C . . NT END=220091596;NT GT ./. 1 220089352 rs2231734 A C 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.7075,C/0.2925;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.959-62T>G;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:54:14:0:0:32,22:1101,685:0.00,63.14:0.00,12.13:0.00,51.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,36.0:0,0:0,0:84,105:66,43:35,19:-,NM_018713.2(SLC30A10) c.959-62T>G:-,0.32:-,NOT_FOUND 1 220091318 rs4846606 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8702,A/0.1298;PC=0.002;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.958+279C>T;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,G:5:5:0:0:3,2:98,48:9.78,0.00:9.78,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:37.0,60.0:0,0:0,0:25,131:126,20:8,10:NM_018713.2(SLC30A10) c.958+279C>T,-:0.14,-:NOT_FOUND,- 1 220091837 . C . . NT END=220100369;NT GT ./. 1 220100486 . C . . NT END=220101142;NT GT ./. 1 220101002 . A AC 7 nt VT=INS;SST=Single;DP=20;NP=1;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+140_640+141insG;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,AC:19:20:4:0:16,3:522,118:0.00,7.03:0.00,7.03:0.00,0.00:0.00,0.50:0.00,0.50:0.00,0.00:60,60:89.4,72.7:0,1:0,0:40,80:109,70:26,34:-,NM_018713.2(SLC30A10) c.640+140_640+141insG:-,NOT_FOUND:-,NOT_FOUND 1 220101005 rs76160931 A C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=11;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+138T>G;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:19:0:0:10,9:285,193:0.00,17.80:0.00,17.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:78.5,94.6:1,2:0,0:28,54:122,91:22,25:-,NM_018713.2(SLC30A10) c.640+138T>G:-,NOT_FOUND:-,NOT_FOUND 1 220101008 rs79951865 A C 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+135T>G;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,C:22:21:0:0:8,14:122,336:0.00,33.96:0.00,34.38:0.00,-0.42:0.00,1.00:0.00,1.00:0.00,0.76:60,60:86.2,78.6:0,0:0,0:55,26:95,123:22,22:-,NM_018713.2(SLC30A10) c.640+135T>G:-,NOT_FOUND:-,NOT_FOUND 1 220101017 . C A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+126G>T;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,C,D:30:28:0:1:6,23,1:100,568,26:6.51,0.00,1.27:4.72,0.00,1.29:1.78,0.00,-0.01:0.90,0.00,0.00:0.99,0.00,0.00:0.47,0.00,0.00:60,70,60:110.5,56.5,11.0:1,13,0:0,0,0:65,19,128:85,132,22:48,15,0:NM_018713.2(SLC30A10) c.640+126G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 220101020 rs111682715 CA C 7 idl,rn VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=10;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+122delT;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,CA,C:25:26:0:9:3,18,4:93,498,171:6.94,0.00,6.44:4.38,0.00,6.51:2.56,0.00,-0.07:0.44,0.00,0.00:0.87,0.00,0.00:0.34,0.00,0.00:60,70,60:102.0,54.1,126.0:0,6,3:0,0,0:77,20,54:74,130,97:53,13,15:-,NM_018713.2(SLC30A10) c.640+122delT:-,NOT_FOUND:-,NOT_FOUND 1 220101021 . A AAC 16 idl,nt VT=INS;SST=Single;DP=22;NP=1;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+121_640+122insGT;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,AAC:22:20:6:8:16,6:479,186:0.00,15.87:0.00,13.40:0.00,2.47:0.00,0.93:0.00,0.99:0.00,0.56:60,70:68.8,59.7:1,0:0,0:44,14:106,137:34,3:-,NM_018713.2(SLC30A10) c.640+121_640+122insGT:-,NOT_FOUND:-,NOT_FOUND 1 220101024 rs141264417 A C 20 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+119T>G;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:28:26:0:4:19,9:510,236:0.00,20.27:0.00,19.11:0.00,1.16:0.00,0.99:0.00,1.00:0.00,0.71:60,70:56.9,94.3:3,8:0,0:37,28:113,123:30,15:-,NM_018713.2(SLC30A10) c.640+119T>G:-,NOT_FOUND:-,NOT_FOUND 1 220101029 rs80221205 A AC 24 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=33;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=SLC30A10/NM_018713.2/1;CC=c.640+113_640+114insG;VC=Intron;Gene=SLC30A10/NR_046437.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,C,AC:37:35:9:0:24,4,9:729,125,286:0.00,9.36,24.47:0.00,6.74,24.71:0.00,2.61,-0.24:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.68:70,60,60:65.7,44.2,45.0:7,0,0:0,0,0:43,4,28:107,146,123:31,2,12:-,NM_018713.2(SLC30A10) c.640+113_640+114insG:-,NOT_FOUND:-,NOT_FOUND 1 220101783 . C . . NT END=220142147;NT GT ./. 1 220142023 rs1061248 C T 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.5236,T/0.4764;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.*125G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:680:78.44:78.44:0.00:1.00:1.00:0.00:60:69.3:0:0:59:90:21:NM_004446.2(EPRS) c.*125G>A,NM_004446.2(EPRS) c.*125G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220142070 rs1061242 C T 157 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.5238,A/.,T/0.4762;PC=0.037;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.*78G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T:44:44:0:0:44:1360:156.90:143.48:13.42:1.00:1.00:1.00:60:48.0:0:0:36:114:24:NM_004446.2(EPRS) c.*78G>A,NM_004446.2(EPRS) c.*78G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220142299 . C . . NT END=220142399;NT GT ./. 1 220142465 . C . . NT END=220145410;NT GT ./. 1 220142612 rs2270712 C T 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5238,T/0.4762;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4324-148G>A;VC=Intron;DM=EPRS/ProRS-C_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:299:34.19:0.00:34.19:1.00:0.00:1.00:60:47.4:0:0:98:52:20:NM_004446.2(EPRS) c.4324-148G>A,NM_004446.2(EPRS) c.4324-148G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220145272 rs1982987 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5198,T/0.4802;PC=0.027;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4323+139G>A;VC=Intron;DM=EPRS/ProRS-C_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:214:24.74:24.74:0.00:1.00:1.00:0.00:60:49.6:0:0:69:82:27:NM_004446.2(EPRS) c.4323+139G>A,NM_004446.2(EPRS) c.4323+139G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 220145371 rs2795315 T G 72 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.1098,G/0.8902;PC=0.003;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4323+40A>C;VC=Intron;DM=EPRS/ProRS-C_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:18:0:0:19:629:71.91:49.99:21.92:1.00:1.00:1.00:60:38.7:0:0:63:79:24:NM_004446.2(EPRS) c.4323+40A>C,NM_004446.2(EPRS) c.4323+40A>C:0.88,0.88:0.869163,0.869163 1 220145490 . C . . NT END=220146579;NT GT ./. 1 220145584 rs1982986 C T 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5236,T/0.4764;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4245-95G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:G,T:13:3:0:0:1,12:10,400:0.48,45.30:0.00,6.01:0.48,39.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:68.0,40.9:0,0:0,0:46,131:105,19:0,8:NM_004446.2(EPRS) c.4245-95G>A,NM_004446.2(EPRS) c.4245-95G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220145655 rs1982984 C T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5238,T/0.4762;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4245-166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:121:14.00:0.00:14.00:1.00:0.00:1.00:60:58.5:0:0:89:61:16:NM_004446.2(EPRS) c.4245-166G>A,NM_004446.2(EPRS) c.4245-166G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220146741 . C . . NT END=220151887;NT GT ./. 1 220146873 rs397778743 G GA 24 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;NP=72;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4084-134_4084-133insT;VC=Intron;DM=EPRS/HGTP_anticodon;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:A,G,GA:16:0:9:0:3,4,9:74,104,231:6.32,0.00,23.71:0.00,0.00,0.00:6.32,0.00,23.71:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,70:119.0,13.8,38.4:2,0,0:0,0,0:113,143,82:38,6,65:1,4,36:-,NM_004446.2(EPRS) c.4084-134_4084-133insT:-,NOT_FOUND:-,NOT_FOUND 1 220151644 rs7553236 G A 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5226,A/0.4774;PC=0.003;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4083+244C>T;VC=Intron;DM=EPRS/HGTP_anticodon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:167:19.08:19.08:0.00:1.00:1.00:0.00:60:90.2:0:0:67:83:21:NM_004446.2(EPRS) c.4083+244C>T,NM_004446.2(EPRS) c.4083+244C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220151692 rs2270710 A G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5226,G/0.4774;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4083+196T>C;VC=Intron;DM=EPRS/HGTP_anticodon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:254:29.19:29.19:0.00:1.00:1.00:0.00:60:72.8:0:0:83:56:41:NM_004446.2(EPRS) c.4083+196T>C,NM_004446.2(EPRS) c.4083+196T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220151808 rs3215088 C CAA 54 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5218,T/0.0009984;DB;DBA=NA;PAF=C/0.5218,CAA/0.4772;NP=1808;NP=9;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.4083+79_4083+80insTT;VC=Intron;DM=EPRS/HGTP_anticodon;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:A,CAA:16:15:15:0:1,15:29,476:2.17,54.33:2.17,48.76:0.00,5.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,7.3:0,0:0,0:0,42:151,108:0,25:NM_004446.2(EPRS) c.4083+79_4083+80insTT,NM_004446.2(EPRS) c.4083+79_4083+80insTT:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220152062 . C . . NT END=220152759;NT GT ./. 1 220152251 rs2647438 C T 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1112,T/0.8888;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3910-190G>A;VC=Intron;DM=EPRS/HGTP_anticodon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:214:24.74:0.00:24.74:1.00:0.00:1.00:60:69.1:0:0:89:62:35:NM_004446.2(EPRS) c.3910-190G>A,NM_004446.2(EPRS) c.3910-190G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 220152288 rs10863522 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=71;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3910-227C>T;VC=Intron;DM=EPRS/HGTP_anticodon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:79.8:0:0:119:30:4:NM_004446.2(EPRS) c.3910-227C>T,NM_004446.2(EPRS) c.3910-227C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 220152306 rs143483062 ATTTT A 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3910-249_3910-246delAAAA;VC=Intron;DM=EPRS/HGTP_anticodon;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:ATTTT,A:4:0:0:3:1,3:32,92:0.00,9.65:0.00,0.00:0.00,9.65:0.00,0.85:0.00,0.00:0.00,0.85:60,60:95.0,74.7:0,0:0,0:144,136:7,13:0,3:-,NM_004446.2(EPRS) c.3910-249_3910-246delAAAA:-,NOT_FOUND:-,NOT_FOUND 1 220152958 . C . . NT END=220153426;NT GT ./. 1 220153332 rs386369689 T TAA 98 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.1635,TAA/0.8365;DB;DBA=NA;PAF=T/0.1635,TAA/0.8365;DB;DBA=NA;PAF=T/0.1635,TAA/0.8365;NP=3359;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3711+93_3711+94dupTT;VC=Intron;DM=EPRS/tRNA-synt_2b;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:TAA:27:25:27:0:27:855:98.37:83.66:14.71:1.00:1.00:1.00:70:0.9:0:0:53:98:36:NM_004446.2(EPRS) c.3711+94_3711+95insTT,NM_004446.2(EPRS) c.3711+94_3711+95insTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 220153583 . C . . NT END=220154097;NT GT ./. 1 220154200 . C . . NT END=220154719;NT GT ./. 1 220154246 rs531832951 AT A 89 rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1243;PC=0.625;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3454-48delA;VC=Intron;DM=EPRS/tRNA-synt_2b;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:36:18:0:28:9,27:277,879:0.00,88.79:0.00,32.00:0.00,56.78:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.9,19.4:0,1:0,0:136,98:11,49:10,26:-,NM_004446.2(EPRS) c.3454-48delA:-,NOT_FOUND:-,NOT_FOUND 1 220154306 rs11118480 A C 87 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.5198,C/0.4802;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3454-107T>G;VC=Intron;DM=EPRS/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:1:0:0:23:763:87.26:3.38:83.89:1.00:1.00:1.00:70:47.8:0:0:72:73:40:NM_004446.2(EPRS) c.3454-107T>G,NM_004446.2(EPRS) c.3454-107T>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220154487 rs1694600 G C 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1639,C/0.8361,T/.;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3453+233C>G;VC=Intron;DM=EPRS/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:4:0:0:8:237:27.51:14.31:13.20:1.00:1.00:1.00:60:52.5:0:0:20:129:17:NM_004446.2(EPRS) c.3453+233C>G,NM_004446.2(EPRS) c.3453+233C>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 220154602 rs1694599 T C 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.1635,C/0.8365;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3453+118A>G;VC=Intron;DM=EPRS/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:21:0:0:22:675:77.89:73.91:3.98:1.00:1.00:1.00:60:53.8:0:0:59:78:42:NM_004446.2(EPRS) c.3453+118A>G,NM_004446.2(EPRS) c.3453+118A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 220154659 rs56248320 TAAA T 60 idl,nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=TAAA/0.152,T/0.848;DB;DBA=NA;PAF=TAAA/0.152,T/0.848;NP=624;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3453+58_3453+60delTTT;VC=Intron;DM=EPRS/tRNA-synt_2b;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:TAAA,T:21:23:0:24:2,19:43,628:0.00,60.31:0.00,51.02:0.00,9.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:85.0,27.5:0,3:0,0:114,45:22,104:1,26:NM_004446.2(EPRS) c.3453+58_3453+60delTTT,NM_004446.2(EPRS) c.3453+58_3453+60delTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 220154800 . C . . NT END=220156113;NT GT ./. 1 220155920 rs2133194 G A 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.519,A/0.481;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3373+194C>T;VC=Intron;DM=EPRS/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:192:22.06:22.06:0.00:1.00:1.00:0.00:60:35.3:0:0:65:85:37:NM_004446.2(EPRS) c.3373+194C>T,NM_004446.2(EPRS) c.3373+194C>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220156090 rs2647462 T C 121 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.1635,C/0.8365;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3373+24A>G;VC=Intron;DM=EPRS/tRNA-synt_2b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:24:0:0:32:1060:121.26:70.61:50.65:1.00:1.00:1.00:60:38.0:0:0:30:119:16:NM_004446.2(EPRS) c.3373+24A>G,NM_004446.2(EPRS) c.3373+24A>G:0.84,0.84:0.812394,0.812394 1 220156187 . C . . NT END=220156530;NT GT ./. 1 220156427 rs1391566 T C 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.519,C/0.481;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3300+104A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:12:0:0:16:507:58.28:45.12:13.16:1.00:1.00:1.00:60:43.6:0:0:78:72:30:NM_004446.2(EPRS) c.3300+104A>G,NM_004446.2(EPRS) c.3300+104A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 1 220156741 . C . . NT END=220157547;NT GT ./. 1 220157001 rs2647461 G A 15 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3091-261C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:133:15.21:1.94:13.27:1.00:1.00:1.00:60:66.5:0:0:100:51:22:NM_004446.2(EPRS) c.3091-261C>T,NM_004446.2(EPRS) c.3091-261C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 1 220157017 rs2789793 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2037,C/0.7963;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3091-277A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:1:0:0:4:111:12.96:2.04:10.92:1.00:1.00:1.00:60:66.5:0:0:116:35:22:NM_004446.2(EPRS) c.3091-277A>G,NM_004446.2(EPRS) c.3091-277A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 220157600 . C . . NT END=220160483;NT GT ./. 1 220160152 rs2789795 T A 21 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3038+332A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:186:21.46:19.47:1.99:1.00:1.00:1.00:60:67.2:0:0:46:100:27:NM_004446.2(EPRS) c.3038+332A>T,NM_004446.2(EPRS) c.3038+332A>T:0.53,0.53:NOT_FOUND,NOT_FOUND 1 220160262 rs2789796 T C 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4399,C/0.5601;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3038+222A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:347:39.90:39.90:0.00:1.00:1.00:0.00:60:61.3:0:0:73:78:39:NM_004446.2(EPRS) c.3038+222A>G,NM_004446.2(EPRS) c.3038+222A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 1 220160360 rs2647435 A G 105 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.4399,G/0.5601;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3038+124T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:28:0:0:31:899:104.65:92.13:12.52:1.00:1.00:1.00:60:67.9:0:0:28:122:18:NM_004446.2(EPRS) c.3038+124T>C,NM_004446.2(EPRS) c.3038+124T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 1 220160433 rs2647434 A G 228 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.104,G/0.896;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.3038+51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:G:62:56:0:0:62:1984:227.82:179.66:48.16:1.00:1.00:1.00:60:51.1:0:0:48:98:31:NM_004446.2(EPRS) c.3038+51T>C,NM_004446.2(EPRS) c.3038+51T>C:0.88,0.88:0.859197,0.859197 1 220160747 . C . . NT END=220161931;NT GT ./. 1 220161663 rs2789798 G A 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4399,A/0.5601;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.2775+269C>T;VC=Intron;DM=EPRS/WHEP-TRS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:55.2:0:0:69:81:33:NM_004446.2(EPRS) c.2775+269C>T,NM_004446.2(EPRS) c.2775+269C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 1 220161751 rs2795310 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1695,G/0.8305;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.2775+181T>C;VC=Intron;DM=EPRS/WHEP-TRS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:171:19.48:19.48:0.00:1.00:1.00:0.00:60:50.4:0:0:44:107:38:NM_004446.2(EPRS) c.2775+181T>C,NM_004446.2(EPRS) c.2775+181T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 1 220162004 rs36122746 C T 93 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.9623,A/.,T/0.03774;PC=0.996;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.2703G>A;ProtCh=p.A901=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:67:54:0:0:1,36,30:30,1194,984:1.43,0.00,92.93:-0.17,0.00,50.91:1.60,0.00,42.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:30.0,5.4,39.0:0,0,0:0,0,0:22,72,61:125,78,82:0,45,24:-,NM_004446.2(EPRS) c.2703G>A (p.(=)):-,0.03:-,0.020913 1 220162166 . C . . NT END=220170324;NT GT ./. 1 220162195 rs2254494 T C 137 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4397,C/0.5603;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.2542-30A>G;VC=Intron;DM=EPRS/WHEP-TRS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:C:40:11:0:0:40:1178:136.60:23.94:112.66:1.00:1.00:1.00:60:47.0:0:0:101:47:35:NM_004446.2(EPRS) c.2542-30A>G,NM_004446.2(EPRS) c.2542-30A>G:0.59,0.59:0.615046,0.615046 1 220170013 rs2647470 G A 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1715,A/0.8285;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.2541+312C>T;VC=Intron;DM=EPRS/WHEP-TRS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:189:21.76:21.76:0.00:1.00:1.00:0.00:60:33.0:0:0:6:143:4:NM_004446.2(EPRS) c.2541+312C>T,NM_004446.2(EPRS) c.2541+312C>T:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220170238 rs41304103 C T 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.9617,T/0.03834;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.2541+87G>A;VC=Intron;DM=EPRS/WHEP-TRS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:33:29:0:0:1,14,18:19,451,573:0.72,0.00,56.35:0.77,0.00,45.30:-0.05,0.00,11.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:161.0,4.9,39.2:0,0,0:0,0,0:124,52,35:27,98,109:0,27,24:-,NM_004446.2(EPRS) c.2541+87G>A:-,0.03:-,NOT_FOUND 1 220170685 . C . . NT END=220174479;NT GT ./. 1 220174598 . C . . NT END=220178589;NT GT ./. 1 220178703 . C . . NT END=220179447;NT GT ./. 1 220178717 rs5781162 T TA 86 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.101,TA/0.899;DB;DBA=NA;PAF=T/0.101,TA/0.899;NP=3313;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.1951-16dupT;VC=Intron;DM=EPRS/tRNA-synt_1c_C;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:T,TA:28:14:25:0:3,25:75,780:0.00,85.83:0.00,25.84:0.00,59.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,5.8:0,0:0,0:145,108:3,42:1,17:-,NM_004446.2(EPRS) c.1951-16_1951-15insT:-,0.88:-,0.859552 1 220179322 rs2647420 A T 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1717,T/0.8283;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.1950+126T>A;VC=Intron;DM=EPRS/tRNA-synt_1c_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:15:0:0:15:519:59.05:59.05:0.00:1.00:1.00:0.00:60:45.7:0:0:26:106:24:NM_004446.2(EPRS) c.1950+126T>A,NM_004446.2(EPRS) c.1950+126T>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220179656 . C . . NT END=220180543;NT GT ./. 1 220179711 rs41274788 C A 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9595,A/0.04054;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.1743-56G>T;VC=Intron;DM=EPRS/tRNA-synt_1c_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,C:15:3:0:0:4,11:132,363:11.33,0.00:-0.20,0.00:11.53,0.00:0.76,0.00:0.64,0.00:0.76,0.00:60,60:41.5,0.0:0,0:0,0:91,128:59,18:18,17:NM_004446.2(EPRS) c.1743-56G>T,-:0.03,-:NOT_FOUND,- 1 220179790 rs147533421 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9595,C/0.04054;PC=0.058;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.1743-135A>G;VC=Intron;DM=EPRS/tRNA-synt_1c_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:9:0:0:0:3,6:104,197:9.34,0.00:0.00,0.00:9.34,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:56.3,1.3:0,0:0,0:59,112:92,39:28,27:NM_004446.2(EPRS) c.1743-135A>G,-:0.03,-:NOT_FOUND,- 1 220180681 . C . . NT END=220184287;NT GT ./. 1 220180833 rs2270709 C T 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7252,T/0.2748;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.1606-153G>A;VC=Intron;DM=EPRS/tRNA-synt_1c_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:C,T:12:0:0:0:4,8:130,267:0.00,27.20:0.00,0.00:0.00,27.20:0.00,1.00:0.00,0.00:0.00,1.00:60,60:36.0,36.5:0,0:0,0:115,78:33,72:18,39:-,NM_004446.2(EPRS) c.1606-153G>A:-,0.23:-,NOT_FOUND 1 220184164 rs111370390 A G,AAG 13 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1388,G/0.8612;DB;DBA=NA;PAF=NA;PC=0.996;DM=EPRS/tRNA-synt_1c_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:76:A,G,AAG:8:9:5:0:1,3,4:12,82,162:0.00,8.02,13.05:0.00,8.02,13.05:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,70:0.0,62.7,6.2:0,0,1:0,0,0:137,21,20:11,130,131:0,1,14:NM_004446.2(EPRS) c.1605+124T>C,NM_004446.2(EPRS) c.1605+123_1605+124insCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 220184399 . C . . NT END=220191467;NT GT ./. 1 220191489 . C . . NT END=220191790;NT GT ./. 1 220191851 . C . . NT END=220192336;NT GT ./. 1 220191932 rs76068152 G GA 11 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=102;NP=73;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.1435-83dupT;VC=Intron;DM=EPRS/tRNA-synt_1c;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G,T,GA:16:7:5:0:3,8,1,4:63,246,10,151:4.82,0.00,0.19,10.66:-0.25,0.00,0.32,5.55:5.07,0.00,-0.13,5.12:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.93:60,60,60,60:113.3,22.6,124.0,9.8:3,0,0,1:0,0,0,0:101,133,134,105:31,11,16,44:18,14,0,22:-,NM_004446.2(EPRS) c.1435-83_1435-82insT:-,NOT_FOUND:-,NOT_FOUND 1 220192422 . C . . NT END=220193329;NT GT ./. 1 220192495 rs2245457 C G 41 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.101,G/0.899;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.1350-74G>C;VC=Intron;DM=EPRS/tRNA-synt_1c GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:1:0:0:11:357:40.92:1.99:38.94:1.00:1.00:1.00:60:45.0:0:0:129:21:19:NM_004446.2(EPRS) c.1350-74G>C,NM_004446.2(EPRS) c.1350-74G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 220193564 . C . . NT END=220195688;NT GT ./. 1 220195861 . C . . NT END=220197605;NT GT ./. 1 220197450 rs3767658 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.725,T/0.275;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.943+156G>A;VC=Intron;DM=EPRS/tRNA-synt_1c GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:8:8:0:0:1,7:36,183:0.00,20.28:0.00,20.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:34.0,82.7:0,0:0,0:41,42:109,106:0,18:-,NM_004446.2(EPRS) c.943+156G>A:-,0.23:-,NOT_FOUND 1 220197545 rs2577159 C T 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.1715,T/0.8285;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.943+61G>A;VC=Intron;DM=EPRS/tRNA-synt_1c GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:23:0:0:24:801:91.55:76.19:15.36:1.00:1.00:1.00:60:59.8:0:0:60:91:34:NM_004446.2(EPRS) c.943+61G>A,NM_004446.2(EPRS) c.943+61G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220197625 rs2230301 G T 213 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.101,T/0.899;PC=0.996;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.924C>A;ProtCh=p.D308E;VC=Missense;DM=EPRS/tRNA-synt_1c GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:A,T:58:47:0:0:1,57:13,1866:0.29,213.35:0.29,150.81:0.00,62.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.0,44.9:0,0:0,0:59,59:92,92:0,29:NM_004446.2(EPRS) c.924C>A (p.Asp308Glu),NM_004446.2(EPRS) c.924C>A (p.Asp308Glu):0.88,0.88:0.859065,0.859065 1 220197799 . C . . NT END=220198473;NT GT ./. 1 220198601 . C . . NT END=220203727;NT GT ./. 1 220198770 rs576991625 GA G 25 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=GA/0.1426,G/0.8574;DB;DBA=NA;PAF=GA/0.1426,G/0.8574;NP=253;PC=0.925;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.624-171delT;VC=Intron;DM=EPRS/tRNA-synt_1c;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:GA,G:9:0:0:10:1,8:34,291:0.00,24.84:0.00,0.00:0.00,24.84:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,23.9:0,2:0,0:143,99:8,51:0,22:-,NM_004446.2(EPRS) c.624-171delT:-,NOT_FOUND:-,NOT_FOUND 1 220203449 rs2577140 C T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1657,T/0.8343;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.623+279G>A;VC=Intron;DM=EPRS/tRNA-synt_1c GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:101:11.95:11.95:0.00:1.00:1.00:0.00:60:57.2:0:0:53:96:30:NM_004446.2(EPRS) c.623+279G>A,NM_004446.2(EPRS) c.623+279G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 220203823 . C . . NT END=220205728;NT GT ./. 1 220205583 rs57738676 ATT A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=ATT/0.113,A/0.887;DB;DBA=NA;PAF=NA;NP=49;PC=0.013;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.528+144_528+145delAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:ATT,A:6:7:0:4:3,3:89,128:0.00,9.10:0.00,9.10:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:3.0,49.7:0,1:0,0:100,35:27,109:44,12:-,NM_004446.2(EPRS) c.528+144_528+145delAA:-,NOT_FOUND:-,NOT_FOUND 1 220205693 rs185080542 G GT 9 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9579,T/0.04213;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.528+35_528+36insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:G,GT,D:36:36:5:1:31,4,1:1017,154,32:0.00,8.81,1.74:0.00,5.27,1.81:0.00,3.54,-0.07:0.00,0.60,0.00:0.00,0.94,0.00:0.00,0.69,0.00:60,60,60:25.4,13.0,34.0:0,1,0:0,0,0:30,14,17:104,136,134:27,5,0:-,NM_004446.2(EPRS) c.528+35_528+36insA:-,NOT_FOUND:-,NOT_FOUND 1 220205714 rs201466798 G GA 71 rn VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.9603,GA/0.03974,GAA/.;DB;DBA=NA;PAF=NA;NP=93;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.528+14dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GA:44:41:23:0:3,17,1,23:90,505,10,721:6.42,0.00,0.03,71.15:6.53,0.00,0.07,46.82:-0.11,0.00,-0.04,24.34:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:90.0,22.7,20.0,12.8:1,0,0,0:0,0,0,0:47,37,133,33:103,112,13,109:6,26,0,14:-,NM_004446.2(EPRS) c.528+14_528+15insT:-,0.04:-,0.022048 1 220205869 . C . . NT END=220206843;NT GT ./. 1 220205943 rs2789816 G A 103 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.1717,A/0.8283;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.389-75C>T;VC=Intron;DM=EPRS/GST_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:8:0:0:30:888:102.98:19.54:83.44:1.00:1.00:1.00:60:63.5:0:0:103:47:31:NM_004446.2(EPRS) c.389-75C>T,NM_004446.2(EPRS) c.389-75C>T:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220205980 rs2577138 A C 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1715,C/0.8285;PC=0.015;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.389-112T>G;VC=Intron;DM=EPRS/GST_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:3:0:0:20:619:71.36:10.09:61.26:1.00:1.00:1.00:60:76.0:0:0:96:55:31:NM_004446.2(EPRS) c.389-112T>G,NM_004446.2(EPRS) c.389-112T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220206629 rs11278281 CGACGG C 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CGACGG/0.1717,C/0.8283;NP=308;PC=0.006;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.388+210_388+214delCCGTC;VC=Intron;DM=EPRS/GST_C_3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:6:6:193:22.16:22.16:0.00:1.00:1.00:0.00:60:12.7:0:0:15:135:4:NM_004446.2(EPRS) c.388+210_388+214delCCGTC,NM_004446.2(EPRS) c.388+210_388+214delCCGTC:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220206690 rs2577137 G C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4471,C/0.5529;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.388+154C>G;VC=Intron;DM=EPRS/GST_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:14:14:0:0:6,8:207,266:19.41,0.00:19.41,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:34.5,5.0:0,0:0,0:31,64:119,86:23,9:NM_004446.2(EPRS) c.388+154C>G,-:0.6,-:NOT_FOUND,- 1 220207001 . C . . NT END=220208255;NT GT ./. 1 220207017 rs2647456 C T 134 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.1008,T/0.8992;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.232-17G>A;VC=Intron;DM=EPRS/GST_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:13:0:0:37:1169:134.44:35.73:98.71:1.00:1.00:1.00:60:36.4:0:0:78:71:33:NM_004446.2(EPRS) c.232-17G>A,NM_004446.2(EPRS) c.232-17G>A:0.88,0.88:0.859065,0.859065 1 220207221 rs56389209 C CT 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3343,CT/0.6657;DB;DBA=NA;PAF=C/0.3343,CT/0.6657;NP=16;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.232-222dupA;VC=Intron;DM=EPRS/GST_C_3;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,CT:7:0:4:0:3,4:103,134:0.00,13.23:0.00,0.00:0.00,13.23:0.00,0.90:0.00,0.00:0.00,0.90:60,60:3.7,6.5:0,0:0,0:140,99:11,51:4,9:-,NM_004446.2(EPRS) c.232-222_232-221insA:-,NOT_FOUND:-,NOT_FOUND 1 220208049 rs2577136 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1715,T/0.8285;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.231+207G>A;VC=Intron;DM=EPRS/GST_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:121:14.01:14.01:0.00:1.00:1.00:0.00:60:78.8:0:0:35:115:11:NM_004446.2(EPRS) c.231+207G>A,NM_004446.2(EPRS) c.231+207G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220208154 rs2789817 C A 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1721,A/0.8279;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.231+102G>T;VC=Intron;DM=EPRS/GST_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,G:11:11:0:0:10,1:323,10:36.65,0.53:36.65,0.53:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.3,24.0:0,0:0,0:59,46:91,105:37,0:NM_004446.2(EPRS) c.231+102G>T,NM_004446.2(EPRS) c.231+102G>T:0.83,0.83:NOT_FOUND,NOT_FOUND 1 220208356 . C . . NT END=220213526;NT GT ./. 1 220208492 rs2647454 T C 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1068,C/0.8932;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=EPRS/NM_004446.2/1;CC=c.132-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:309:35.19:0.00:35.19:1.00:0.00:1.00:60:45.3:0:0:126:24:17:NM_004446.2(EPRS) c.132-137A>G,NM_004446.2(EPRS) c.132-137A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 220213612 . C . . NT END=220219684;NT GT ./. 1 220219947 . C . . NT END=220231176;NT GT ./. 1 220220242 rs369425746 GT G 9 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GT/0.8976,G/0.1024;DB;DBA=NA;PAF=GT/0.8976,G/0.1024;NP=82;PC=0.002;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GT,I,G:8:0:1:5:3,1,4:77,19,125:0.00,1.28,9.04:0.00,0.00,0.00:0.00,1.28,9.04:0.00,0.00,0.85:0.00,0.00,0.00:0.00,0.00,0.85:60,60,60:5.7,56.0,42.5:0,0,1:0,0,0:75,133,80:66,15,69:12,0,17:-,NM_004446.2(EPRS) c.-270-u243delA:-,NOT_FOUND:-,NOT_FOUND 1 220231180 rs34887640 CT C 86 PASS VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=CT/0.7929,C/0.2071;NP=99;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.*1005delA;VC=3UTR;Gene=BPNT1/NM_001286150.1/0;CC=c.*1005delA;VC=3UTR;Gene=BPNT1/NM_001286151.1/0;CC=c.*1005delA;VC=3UTR;Gene=BPNT1/NM_006085.5/1;CC=c.*1005delA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:56:46:0:31:27,29:920,894:0.00,86.39:0.00,55.83:0.00,30.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,8.3:0,0:0,0:49,57:95,86:28,32:-,NM_006085.4(BPNT1) c.*1005delA:-,0.22:-,0.249234 1 220231259 . c . . NT END=220231514;NT GT ./. 1 220231447 rs2647465 G A 138 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.2392,A/0.7608;PC=0.001;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.*739C>T;VC=3UTR;Gene=BPNT1/NM_001286150.1/0;CC=c.*739C>T;VC=3UTR;Gene=BPNT1/NM_001286151.1/0;CC=c.*739C>T;VC=3UTR;Gene=BPNT1/NM_006085.5/1;CC=c.*739C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:A:38:26:0:0:38:1202:138.27:87.40:50.87:1.00:1.00:1.00:60:39.3:0:0:70:79:43:NM_006085.4(BPNT1) c.*739C>T,NM_006085.4(BPNT1) c.*739C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 1 220231876 rs554882925 G GT 16 idl,rn VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.99,T/0.009984;NP=1;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.*309_*310insA;VC=3UTR;Gene=BPNT1/NM_001286150.1/0;CC=c.*309_*310insA;VC=3UTR;Gene=BPNT1/NM_001286151.1/0;CC=c.*309_*310insA;VC=3UTR;Gene=BPNT1/NM_006085.5/1;CC=c.*309_*310insA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:G,GT,D:66:27:9:3:56,7,3:1794,286,90:0.00,15.90,5.28:0.00,4.51,-0.34:0.00,11.39,5.62:0.00,0.89,0.00:0.00,0.87,0.00:0.00,0.99,0.00:60,60,60:9.4,21.0,29.0:0,2,0:0,0,0:113,65,102:30,73,35:25,24,27:-,NM_006085.4(BPNT1) c.*309dupA:-,NOT_FOUND:-,NOT_FOUND 1 220231892 . a . . NT END=220232149;NT GT ./. 1 220232335 . C . . NT END=220233027;NT GT ./. 1 220232558 rs2247212 T A 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2396,A/0.7604;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.614-224A>T;VC=Intron;Gene=BPNT1/NM_001286150.1/0;CC=c.671-224A>T;VC=Intron;Gene=BPNT1/NM_001286151.1/0;CC=c.614-224A>T;VC=Intron;Gene=BPNT1/NM_006085.5/1;CC=c.779-224A>T;VC=Intron;DM=BPNT1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:210:24.33:0.00:24.33:1.00:0.00:1.00:60:45.3:0:0:111:38:24:NM_006085.4(BPNT1) c.779-224A>T,NM_006085.4(BPNT1) c.779-224A>T:0.78,0.78:NOT_FOUND,NOT_FOUND 1 220233134 . C . . NT END=220236098;NT GT ./. 1 220236297 . C . . NT END=220239414;NT GT ./. 1 220239448 rs1146773 T C 76 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.3423,C/0.6577;PC=1.000;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.309+1196A>G;VC=Intron;Gene=BPNT1/NM_001286150.1/0;CC=c.366+1196A>G;VC=Intron;Gene=BPNT1/NM_001286151.1/0;CC=c.309+1196A>G;VC=Intron;Gene=BPNT1/NM_006085.5/1;CC=c.474+1196A>G;VC=Intron;DM=BPNT1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:11:0:0:19:667:75.76:30.33:45.43:1.00:1.00:1.00:60:42.1:0:0:94:57:34:NM_006085.4(BPNT1) c.474+1196A>G,NM_006085.4(BPNT1) c.474+1196A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 220239460 . C . . NT END=220240643;NT GT ./. 1 220239640 rs1146774 A G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2758,G/0.7242;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.309+1004T>C;VC=Intron;Gene=BPNT1/NM_001286150.1/0;CC=c.366+1004T>C;VC=Intron;Gene=BPNT1/NM_001286151.1/0;CC=c.309+1004T>C;VC=Intron;Gene=BPNT1/NM_006085.5/1;CC=c.474+1004T>C;VC=Intron;DM=BPNT1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:169:19.28:0.00:19.28:1.00:0.00:1.00:60:38.4:0:0:103:47:18:NM_006085.4(BPNT1) c.474+1004T>C,NM_006085.4(BPNT1) c.474+1004T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 220240736 . C . . NT END=220242725;NT GT ./. 1 220240862 rs17563262 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8784,G/0.1216;PC=0.002;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.218-127T>C;VC=Intron;Gene=BPNT1/NM_001286150.1/0;CC=c.275-127T>C;VC=Intron;Gene=BPNT1/NM_001286151.1/0;CC=c.218-127T>C;VC=Intron;Gene=BPNT1/NM_006085.5/1;CC=c.383-127T>C;VC=Intron;DM=BPNT1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:5:0:0:0:2,3:67,99:0.00,9.87:0.00,0.00:0.00,9.87:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,65.3:0,0:0,0:53,119:97,32:38,23:-,NM_006085.4(BPNT1) c.383-127T>C:-,0.13:-,NOT_FOUND 1 220242775 . C . . NT END=220246191;NT GT ./. 1 220243002 rs1612813 A G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=288;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.169-228T>C;VC=Intron;Gene=BPNT1/NM_001286150.1/0;CC=c.226-228T>C;VC=Intron;Gene=BPNT1/NM_001286151.1/0;CC=c.169-228T>C;VC=Intron;Gene=BPNT1/NM_006085.5/1;CC=c.334-228T>C;VC=Intron;DM=BPNT1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:34.5:0:0:122:28:16:NM_006085.4(BPNT1) c.334-228T>C,NM_006085.4(BPNT1) c.334-228T>C:1,1:NOT_FOUND,NOT_FOUND 1 220246300 . C . . NT END=220247308;NT GT ./. 1 220247096 rs2053250 T C 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8832,C/0.1168;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=BPNT1/NM_001286149.1/0;CC=c.60+213A>G;VC=Intron;Gene=BPNT1/NM_001286150.1/0;CC=c.225+213A>G;VC=Intron;Gene=BPNT1/NM_001286151.1/0;CC=c.60+213A>G;VC=Intron;Gene=BPNT1/NM_006085.5/1;CC=c.225+213A>G;VC=Intron;DM=BPNT1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,T:6:6:0:0:3,3:102,72:9.85,0.00:9.85,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:61.0,0.0:0,0:0,0:85,32:64,118:33,15:NM_006085.4(BPNT1) c.225+213A>G,-:0.13,-:NOT_FOUND,- 1 220247414 . C . . NT END=220253068;NT GT ./. 1 220253189 . G . . NT END=220267558;NT GT ./. 1 220267413 . G C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:C,G:17:17:0:0:6,11:85,187:6.65,0.00:6.65,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:119.3,38.6:0,0:0,0:97,56:54,93:34,16:NM_006085.4(BPNT1) c.-172-u4222C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 220267826 . G . . NT END=220269445;NT GT ./. 1 220269426 rs376359534 CT C 10 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=15;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=IARS2/NM_018060.3/1;CC=c.268-8delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:CT,I,C:38:30:5:4:30,4,4:928,166,134:0.00,9.85,9.95:0.00,8.92,10.41:0.00,0.93,-0.47:0.00,0.00,0.59:0.00,0.00,0.89:0.00,0.00,0.69:60,60,60:22.1,5.8,0.0:0,1,0:0,0,0:59,73,45:91,77,105:32,20,7:-,NM_018060.3(IARS2) c.268-19delT:-,NOT_FOUND:-,0.041287 1 220269569 . G . . NT END=220273831;NT GT ./. 1 220273992 . G . . NT END=220275470;NT GT ./. 1 220275174 rs60531981 C G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8814,G/0.1186;PC=0.013;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=IARS2/NM_018060.3/1;CC=c.551-297C>G;VC=Intron;DM=IARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:4:4:0:0:1,3:34,93:0.00,9.75:0.00,9.75:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:30.0,50.7:0,0:0,0:45,72:106,78:0,60:-,NM_018060.3(IARS2) c.551-297C>G:-,0.13:-,NOT_FOUND 1 220275378 rs2789788 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4852,A/0.5148;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=IARS2/NM_018060.3/1;CC=c.551-93G>A;VC=Intron;DM=IARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:25:0:0:10,15:319,492:29.36,0.00:29.59,0.00:-0.22,0.00:1.00,0.00:1.00,0.00:0.70,0.00:60,60:44.0,18.5:0,0:0,0:46,62:102,89:20,23:NM_018060.3(IARS2) c.551-93G>A,-:0.5,-:NOT_FOUND,- 1 220275620 . G . . NT END=220275704;NT GT ./. 1 220275755 . G . . NT END=220275836;NT GT ./. 1 220275947 . G . . NT END=220276028;NT GT ./. 1 220276120 . G . . NT END=220276788;NT GT ./. 1 220276304 rs17563518 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8798,T/0.1202;Gene=RNU5F-1/NR_002753.5/0;VC=NonCoding;Gene=IARS2/NM_018060.3/1;CC=c.950+185C>T;VC=Intron;DM=IARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:5:0:0:0:2,3:62,102:0.00,10.17:0.00,0.00:0.00,10.17:0.00,0.78:0.00,0.00:0.00,0.78:60,60:35.0,45.0:0,0:0,0:121,127:29,24:1,10:-,NM_018060.3(IARS2) c.950+185C>T:-,0.13:-,NOT_FOUND 1 220276905 . G . . NT END=220279232;NT GT ./. 1 220279403 . G . . NT END=220280402;NT GT ./. 1 220280494 . G . . NT END=220284127;NT GT ./. 1 220284280 . G . . NT END=220287655;NT GT ./. 1 220287817 . G . . NT END=220298578;NT GT ./. 1 220298682 . G . . NT END=220300091;NT GT ./. 1 220300186 . G . . NT END=220307743;NT GT ./. 1 220307853 . G . . NT END=220310150;NT GT ./. 1 220309976 . CA C 7 rn VT=DEL;SST=Single;DP=5;PC=0.582;Gene=IARS2/NM_018060.3/1;CC=c.1947-155delA;VC=Intron;DM=IARS2/tRNA-synt_1;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CA,I,C:5:5:1:2:2,1,2:61,33,68:0.00,2.88,6.52:0.00,2.88,6.52:0.00,0.00,0.00:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.00:60,60,60:21.0,20.0,0.0:0,0,0:0,0,0:50,36,96:100,115,54:22,0,14:-,NM_018060.3(IARS2) c.1947-174delA:-,NOT_FOUND:-,NOT_FOUND 1 220310254 . G . . NT END=220311259;NT GT ./. 1 220311386 . G . . NT END=220312349;NT GT ./. 1 220312482 . G . . NT END=220313524;NT GT ./. 1 220313632 . G . . NT END=220315144;NT GT ./. 1 220313715 rs141385141 A G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9597,G/0.04034;PC=0.005;Gene=IARS2/NM_018060.3/1;CC=c.2414+84A>G;VC=Intron;DM=IARS2/Anticodon_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:2:0:0:7,8:217,236:0.00,22.93:0.00,6.01:0.00,16.92:0.00,1.00:0.00,0.82:0.00,1.00:60,60:2.7,51.9:0,0:0,0:92,124:58,19:23,20:-,NM_018060.3(IARS2) c.2414+84A>G:-,0.04:-,NOT_FOUND 1 220314945 rs10442693 G A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6915,A/0.3085;Gene=IARS2/NM_018060.3/1;CC=c.2415-200G>A;VC=Intron;DM=IARS2/Anticodon_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:7,9:224,273:20.98,0.00:20.98,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:52.4,19.9:0,0:0,0:60,43:90,108:8,8:NM_018060.3(IARS2) c.2415-200G>A,-:0.35,-:NOT_FOUND,- 1 220315291 . G . . NT END=220316285;NT GT ./. 1 220316477 . G . . NT END=220318850;NT GT ./. 1 220318996 . G . . NT END=220320834;NT GT ./. 1 220319110 rs3738336 A G 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8768,G/0.1232;Gene=IARS2/NM_018060.3/1;CC=c.2896+115A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:1:0:0:14,9:410,298:0.00,27.42:0.00,-0.11:0.00,27.53:0.00,1.00:0.00,0.59:0.00,1.00:60,60:25.6,69.2:0,0:0,0:115,124:35,26:11,19:-,NM_018060.3(IARS2) c.2896+115A>G:-,0.13:-,NOT_FOUND 1 220320978 . T . . NT END=220324592;NT GT ./. 1 220321023 rs11095 A G 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.8732,G/0.1268;Gene=IARS2/NM_018060.3/1;CC=c.*46A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:19:0:0:27,20:898,658:0.00,61.42:0.00,24.27:0.00,37.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.2,42.5:0,0:0,0:94,113:52,36:42,12:-,NM_018060.3(IARS2) c.*46A>G:-,0.14:-,0.137091 1 220324749 . C . . NT END=220324947;NT GT ./. 1 220325107 . C . . NT END=220326526;NT GT ./. 1 220326749 . C . . NT END=220327309;NT GT ./. 1 220327400 . C . . NT END=220330611;NT GT ./. 1 220330831 . C . . NT END=220331143;NT GT ./. 1 220331219 . C . . NT END=220332727;NT GT ./. 1 220331319 rs3767654 T G 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8772,G/0.1228;Gene=RAB3GAP2/NM_012414.3/1;CC=c.3262-101A>C;VC=Intron;DM=RAB3GAP2/RAB3GAP2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:G,T:15:2:0:0:10,5:333,147:33.93,0.00:3.75,0.00:30.17,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:44.3,4.2:0,0:0,0:90,145:60,6:9,1:NM_012414.3(RAB3GAP2) c.3262-101A>C,-:0.14,-:NOT_FOUND,- 1 220332552 rs2789792 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4473,T/0.5527;Gene=RAB3GAP2/NM_012414.3/1;CC=c.3261+176G>A;VC=Intron;DM=RAB3GAP2/RAB3GAP2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:C,T:11:11:0:0:6,5:199,152:0.00,14.29:0.00,14.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,41.0:0,0:0,0:35,33:114,116:23,31:-,NM_012414.3(RAB3GAP2) c.3261+176G>A:-,0.54:-,NOT_FOUND 1 220332764 . C . . NT END=220335539;NT GT ./. 1 220332876 rs2808026 G A 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4473,A/0.5527;PC=0.001;Gene=RAB3GAP2/NM_012414.3/1;CC=c.3226-113C>T;VC=Intron;DM=RAB3GAP2/RAB3GAP2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:10:2:0:0:4,6:134,188:12.39,0.00:-0.33,0.00:12.72,0.00:0.84,0.00:0.70,0.00:0.98,0.00:60,60:69.8,24.8:0,0:0,0:109,109:40,41:32,25:NM_012414.3(RAB3GAP2) c.3226-113C>T,-:0.54,-:NOT_FOUND,- 1 220335611 . C . . NT END=220338074;NT GT ./. 1 220338142 . C . . NT END=220340634;NT GT ./. 1 220340742 . C . . NT END=220340843;NT GT ./. 1 220341018 . C . . NT END=220344233;NT GT ./. 1 220344463 . C . . NT END=220345230;NT GT ./. 1 220345392 . C . . NT END=220345978;NT GT ./. 1 220346085 . C . . NT END=220355598;NT GT ./. 1 220355697 . C . . NT END=220356059;NT GT ./. 1 220356274 . C . . NT END=220357377;NT GT ./. 1 220357506 . C . . NT END=220358992;NT GT ./. 1 220359084 . C . . NT END=220363044;NT GT ./. 1 220359237 rs17622257 G T 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9698,T/0.03015;Gene=RAB3GAP2/NM_012414.3/1;CC=c.1780-154C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,T:5:0:0:0:2,3:71,96:0.00,9.57:0.00,0.00:0.00,9.57:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,32.0:0,0:0,0:108,106:41,44:11,21:-,NM_012414.3(RAB3GAP2) c.1780-154C>A:-,0.05:-,NOT_FOUND 1 220363110 . C . . NT END=220363405;NT GT ./. 1 220363489 . C . . NT END=220363718;NT GT ./. 1 220363863 . C . . NT END=220364409;NT GT ./. 1 220364627 . C . . NT END=220366581;NT GT ./. 1 220366722 . C . . NT END=220368419;NT GT ./. 1 220368510 . C . . NT END=220368639;NT GT ./. 1 220368720 . C . . NT END=220369591;NT GT ./. 1 220369741 . C . . NT END=220375617;NT GT ./. 1 220369745 rs397861265 TA T 19 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=TA/0.6959,T/0.3041;DB;DBA=NA;PAF=TA/0.6959,T/0.3041;NP=597;Gene=RAB3GAP2/NM_012414.3/1;CC=c.812-6delT;VC=Intron;DM=RAB3GAP2/RAB3GAP2_N;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:A,TA,I,T:36:22:3:8:1,24,3,8:11,734,99,231:-0.01,0.00,7.19,19.08:-0.14,0.00,-0.43,6.41:0.14,0.00,7.62,12.67:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:20.0,18.9,3.7,26.2:0,0,0,0:0,0,0,0:0,106,108,83:151,40,42,59:0,25,5,20:-,NM_012414.3(RAB3GAP2) c.812-6delT:-,NOT_FOUND:-,NOT_FOUND 1 220375717 . C . . NT END=220379248;NT GT ./. 1 220379349 . C . . NT END=220383729;NT GT ./. 1 220379503 rs4142940 G C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5078,C/0.4922;PC=0.007;Gene=RAB3GAP2/NM_012414.3/1;CC=c.613-155C>G;VC=Intron;DM=RAB3GAP2/RAB3GAP2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:8:0:0:0:5,3:163,104:16.39,0.00:0.00,0.00:16.39,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:55.2,13.3:0,0:0,0:110,116:41,34:18,14:NM_012414.3(RAB3GAP2) c.613-155C>G,-:0.48,-:NOT_FOUND,- 1 220383832 . C . . NT END=220384142;NT GT ./. 1 220384219 . C . . NT END=220384296;NT GT ./. 1 220384345 . C . . NT END=220386228;NT GT ./. 1 220386311 . C . . NT END=220387197;NT GT ./. 1 220387322 . C . . NT END=220406140;NT GT ./. 1 220406206 . C . . NT END=220445564;NT GT ./. 1 220406291 rs10863538 A G 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4992,G/0.5008;PC=0.001;Gene=RAB3GAP2/NM_012414.3/1;CC=c.116-86T>C;VC=Intron;DM=RAB3GAP2/RAB3GAP2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:5:0:0:8,14:241,429:0.00,43.34:0.00,7.36:0.00,35.99:0.00,1.00:0.00,0.99:0.00,1.00:60,60:8.5,32.6:0,0:0,0:118,93:32,57:7,40:-,NM_012414.3(RAB3GAP2) c.116-86T>C:-,0.47:-,NOT_FOUND 1 220426826 rs56074233 G A 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.7266,A/0.2734;PC=0.004;Gene=RAB3GAP2/NM_012414.3/1;CC=c.115+18739C>T;VC=Intron;DM=RAB3GAP2/RAB3GAP2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:52:0:0:18,37:552,1090:48.68,0.00:41.10,0.00:7.59,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:44.4,11.4:0,1:0,0:57,49:81,91:44,32:NM_012414.3(RAB3GAP2) c.115+18739C>T,-:0.26,-:NOT_FOUND,- 1 220427957 rs2814494 A G 33 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5052,G/0.4948;Gene=RAB3GAP2/NM_012414.3/1;CC=c.115+17608T>C;VC=Intron;DM=RAB3GAP2/RAB3GAP2_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:4:0:0:11,10:361,344:0.00,32.86:0.00,1.22:0.00,31.64:0.00,1.00:0.00,0.93:0.00,1.00:60,53:4.0,34.4:0,0:0,0:110,103:41,47:23,35:-,NM_012414.3(RAB3GAP2) c.115+17608T>C:-,0.41:-,NOT_FOUND 1 220440885 rs397814336 C CT 41 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5038,CT/0.4962;DB;DBA=NA;PAF=C/0.5038,CT/0.4962;NP=2008;PC=0.992;Gene=RAB3GAP2/NM_012414.3/1;CC=c.115+4679dupA;VC=Intron;Gene=AURKAPS1/NR_001587.1/0;VC=NonCoding;DM=RAB3GAP2/RAB3GAP2_N;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT:27:15:13:0:13,1,13:444,32,423:0.00,2.03,40.67:0.00,2.17,18.47:0.00,-0.14,22.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:1.2,32.0,8.0:0,0,0:0,0,0:90,0,79:59,151,72:15,0,33:-,NR_001587.1(AURKAPS1) n.172dupA:-,0.46:-,NOT_FOUND 1 220445680 . G . . NT END=220702164;NT GT ./. 1 220487516 rs574739232 G A 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=18;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:12:0:0:9,10:296,309:28.20,0.00:12.63,0.00:15.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.9,8.3:0,0:0,0:36,51:115,99:22,42:chr1 g.220487515G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 220487657 rs10863543 C T 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5849,T/0.4151;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:C,T:18:11:0:0:12,6:423,191:0.00,16.99:0.00,7.03:0.00,9.95:0.00,1.00:0.00,0.98:0.00,1.00:60,60:12.5,34.8:0,0:0,0:99,84:49,65:33,20:-,chr1 g.220487656C>T (intergenic):-,0.42:-,NOT_FOUND 1 220489926 rs71167225 CT C 13 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=749;PC=0.732;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:CT,C:7:7:0:5:3,4:103,131:0.00,12.93:0.00,12.93:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:8.0,16.5:0,0:0,0:111,61:40,90:5,15:-,chr1 g.220489927delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 220530560 rs6541139 T C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5938,C/0.4062 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:8:3:0:0:6,2:184,70:19.31,0.00:6.95,0.00:12.35,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:73.2,5.5:0,0:0,0:65,58:64,92:29,21:chr1 g.220530559T>C (intergenic),-:0.4,-:NOT_FOUND,- 1 220640309 rs7552884 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3828,T/0.6172 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:131:15.01:4.03:10.98:1.00:1.00:1.00:60:54.5:0:0:58:70:28:chr1 g.220640308C>T (intergenic),chr1 g.220640308C>T (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 1 220702216 . G . . NT END=220752695;NT GT ./. 1 220752900 . G . . NT END=220754406;NT GT ./. 1 220754461 . G . . NT END=220771672;NT GT ./. 1 220771722 . G . . NT END=220773139;NT GT ./. 1 220771832 rs11118576 A G 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4716,G/0.5284;PC=0.001;Gene=MARK1/NM_001286124.1/1;CC=c.358+111A>G;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.358+111A>G;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.358+111A>G;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.358+111A>G;VC=Intron;DM=MARK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:0:0:0:15:460:53.13:0.00:53.13:1.00:0.00:1.00:60:39.3:0:0:110:41:20:NM_018650.3(MARK1) c.358+111A>G,NM_018650.3(MARK1) c.358+111A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 1 220773206 . G . . NT END=220777408;NT GT ./. 1 220777480 . G . . NT END=220789280;NT GT ./. 1 220789088 rs77074889 A G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.992,G/0.007987;PC=0.001;Gene=MARK1/NM_001286124.1/1;CC=c.496-193A>G;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.496-193A>G;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.430-193A>G;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.496-193A>G;VC=Intron;DM=MARK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G:5:5:0:0:2,3:54,99:0.00,9.87:0.00,9.87:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:16.5,33.0:0,0:0,0:69,44:81,107:7,22:-,NM_018650.3(MARK1) c.496-193A>G:-,0.01:-,NOT_FOUND 1 220789236 rs2786599 C T 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.06749,T/0.9325;Gene=MARK1/NM_001286124.1/1;CC=c.496-45C>T;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.496-45C>T;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.430-45C>T;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.496-45C>T;VC=Intron;DM=MARK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:9:0:0:12:391:44.82:25.49:19.33:1.00:1.00:1.00:60:47.2:0:0:33:113:9:NM_018650.3(MARK1) c.496-45C>T,NM_018650.3(MARK1) c.496-45C>T:0.95,0.95:0.924149,0.924149 1 220789338 . G . . NT END=220791651;NT GT ./. 1 220789362 rs12137627 T A 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5292,A/0.4708;PC=0.001;Gene=MARK1/NM_001286124.1/1;CC=c.552+25T>A;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.552+25T>A;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.486+25T>A;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.552+25T>A;VC=Intron;DM=MARK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:3:0:0:9:288:33.09:7.65:25.44:1.00:1.00:1.00:60:52.0:0:0:69:80:42:NM_018650.3(MARK1) c.552+25T>A,NM_018650.3(MARK1) c.552+25T>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 220791889 . G . . NT END=220791977;NT GT ./. 1 220792098 . G . . NT END=220804376;NT GT ./. 1 220804477 . G . . NT END=220805542;NT GT ./. 1 220805656 . G . . NT END=220808717;NT GT ./. 1 220808666 rs71794752 CT C 25 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=CT/0.4826,C/0.5174;NP=14;PC=0.001;Gene=MARK1/NM_001286124.1/1;CC=c.1123-34delT;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.1123-34delT;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.1057-34delT;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.1123-34delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:CT,T,I,C:40:36:6:12:23,2,6,9:716,46,197,355:0.00,2.56,15.96,24.67:0.00,0.08,11.92,16.91:0.00,2.48,4.03,7.76:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.92:60,60,60,60:56.6,36.0,80.3,26.3:0,1,0,2:0,0,0,0:42,85,51,80:106,65,88,71:32,64,15,38:-,NM_018650.3(MARK1) c.1123-51delT:-,NOT_FOUND:-,NOT_FOUND 1 220808872 . G . . NT END=220809174;NT GT ./. 1 220808921 rs10746403 T C 165 nt VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.2947,C/0.7053;Gene=MARK1/NM_001286124.1/1;CC=c.1276+50T>C;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.1276+50T>C;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.1210+50T>C;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.1276+50T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:A,C:45:13:0:0:1,44:10,1442:0.20,164.71:0.20,27.57:0.00,137.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:68.0,37.0:0,0:0,0:93,96:58,55:0,31:NM_018650.3(MARK1) c.1276+50T>C,NM_018650.3(MARK1) c.1276+50T>C:0.69,0.69:0.768107,0.768107 1 220809369 . G . . NT END=220823961;NT GT ./. 1 220824063 . G . . NT END=220825327;NT GT ./. 1 220824115 rs12123306 G C 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8083,C/0.1917;Gene=MARK1/NM_001286124.1/1;CC=c.1571+53G>C;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.1571+53G>C;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.1505+53G>C;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.1571+53G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:6:0:0:9,11:292,388:27.52,0.00:6.57,0.00:20.94,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:32.4,3.9:0,0:0,0:98,123:53,28:38,18:NM_018650.3(MARK1) c.1571+53G>C,-:0.23,-:NOT_FOUND,- 1 220825493 . G . . NT END=220826439;NT GT ./. 1 220825523 rs3737296 A G 98 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2049,G/0.7951,T/.;Gene=MARK1/NM_001286124.1/1;CC=c.1736+31A>G;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.1736+31A>G;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.1670+31A>G;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.1736+31A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:7:0:0:28:850:98.23:16.63:81.60:1.00:1.00:1.00:60:39.8:0:0:98:53:32:NM_018650.3(MARK1) c.1736+31A>G,NM_018650.3(MARK1) c.1736+31A>G:0.76,0.76:0.831847,0.831847 1 220826695 . G . . NT END=220831131;NT GT ./. 1 220826945 rs4846657 A G 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2047,G/0.7953;Gene=MARK1/NM_001286124.1/1;CC=c.1991+251A>G;VC=Intron;Gene=MARK1/NM_001286126.1/0;CC=c.1988+251A>G;VC=Intron;Gene=MARK1/NM_001286128.1/0;CC=c.1922+251A>G;VC=Intron;Gene=MARK1/NM_018650.4/0;CC=c.1988+251A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:199:23.21:0.00:23.21:1.00:0.00:1.00:60:40.0:0:0:85:66:29:NM_018650.3(MARK1) c.1988+251A>G,NM_018650.3(MARK1) c.1988+251A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 1 220831177 . G . . NT END=220835153;NT GT ./. 1 220835509 . A . . NT END=220863744;NT GT ./. 1 220864054 . G . . NT END=220869953;NT GT ./. 1 220870074 . T . . NT END=220921873;NT GT ./. 1 220922146 . G . . NT END=220928288;NT GT ./. 1 220928463 . G . . NT END=220934999;NT GT ./. 1 220935163 . G . . NT END=220936251;NT GT ./. 1 220936393 . G . . NT END=220943722;NT GT ./. 1 220943899 . G . . NT END=220953359;NT GT ./. 1 220953422 . G . . NT END=220953509;NT GT ./. 1 220953582 . G . . NT END=220955119;NT GT ./. 1 220955244 . T . . NT END=220960286;NT GT ./. 1 220960562 . G . . NT END=220964832;NT GT ./. 1 220965007 . G . . NT END=220969984;NT GT ./. 1 220970028 rs2642438 A G 413 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.1905,G/0.8095;PC=0.641;Gene=MARC1/NM_022746.3/1;CC=c.493A>G;ProtCh=p.T165A;VC=Missense;DM=MARC1/MOSC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:113:82:0:0:1,112:12,3620:0.00,413.14:0.00,203.98:0.00,209.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:86.0,38.5:0,0:0,0:136,56:6,89:0,31:NM_022746.3(MARC1) c.493A>G (p.Thr165Ala),NM_022746.3(MARC1) c.493A>G (p.Thr165Ala):0.81,0.81:0.776642,0.776642 1 220970148 . G . . NT END=220971215;NT GT ./. 1 220971408 . G . . NT END=220971493;NT GT ./. 1 220971920 . C . . NT END=220972173;NT GT ./. 1 220972328 rs883847 G C 356 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.5653,C/0.4347;PC=0.004;Gene=MARC1/NM_022746.3/1;CC=c.753+972G>C;VC=Intron;DM=MARC1/MOSC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:99:65:0:0:99:3093:356.02:186.09:169.93:1.00:1.00:1.00:60:67.5:0:0:84:64:32:NM_022746.3(MARC1) c.753+972G>C,NM_022746.3(MARC1) c.753+972G>C:0.46,0.46:NOT_FOUND,NOT_FOUND 1 220972343 rs867772 A G 348 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.1975,G/0.8025;Gene=MARC1/NM_022746.3/1;CC=c.753+987A>G;VC=Intron;DM=MARC1/MOSC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:97:65:0:0:96,1:3030,13:348.05,0.19:171.89,0.19:176.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,50:65.9,206.0:0,0:0,0:82,126:66,11:33,0:NM_022746.3(MARC1) c.753+987A>G,NM_022746.3(MARC1) c.753+987A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 220972532 . C . . NT END=220978393;NT GT ./. 1 220978456 . G . . NT END=220978544;NT GT ./. 1 220978617 . G . . NT END=220986633;NT GT ./. 1 220986516 rs12144830 C T 172 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=MARC1/NM_022746.3/1;CC=c.888-118C>T;VC=Intron;DM=MARC1/MOSC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:129:G,T:51:47:0:0:1,50:12,1490:0.27,172.07:0.27,139.84:0.00,32.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.0,69.1:0,0:0,0:86,47:65,104:0,27:NM_022746.3(MARC1) c.888-118C>T,NM_022746.3(MARC1) c.888-118C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 220986546 rs17650107 G A 232 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.7784,A/0.2216;Gene=MARC1/NM_022746.3/1;CC=c.888-88G>A;VC=Intron;DM=MARC1/MOSC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:A:61:53:0:0:61:2034:232.40:164.69:67.71:1.00:1.00:1.00:60:59.8:0:0:52:95:30:NM_022746.3(MARC1) c.888-88G>A,NM_022746.3(MARC1) c.888-88G>A:0.25,0.25:NOT_FOUND,NOT_FOUND 1 220986761 . T . . NT END=221053199;NT GT ./. 1 221052937 rs2738754 A C 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3355,C/0.6645,T/.;PC=0.002;Gene=HLX-AS1/NR_046901.1/0;VC=NonCoding;Gene=HLX/NM_021958.3/1;CC=c.-263A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,C:15:15:0:0:1,14:33,452:0.00,50.28:0.00,50.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,47.0:0,0:0,0:28,44:95,106:0,33:NM_021958.3(HLX) c.-263A>C,NM_021958.3(HLX) c.-263A>C:0.64,0.64:NOT_FOUND,NOT_FOUND 1 221053545 rs12141189 T C 684 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=187;DB;DBA=NA;PAF=T/0.7891,C/0.2109;PC=0.714;Gene=HLX/NM_021958.3/1;CC=c.346T>C;ProtCh=p.S116P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:187:118:0:0:187:5953:684.23:321.38:362.85:1.00:1.00:1.00:60:42.3:0:0:84:65:35:NM_021958.3(HLX) c.346T>C (p.Ser116Pro),NM_021958.3(HLX) c.346T>C (p.Ser116Pro):0.23,0.23:0.212028,0.212028 1 221053792 . G . . NT END=221054535;NT GT ./. 1 221054716 . G . . NT END=221055505;NT GT ./. 1 221054761 rs17597773 C G 156 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7893,G/0.2107;Gene=HLX/NM_021958.3/1;CC=c.772+46C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:12:0:0:42:1364:156.36:24.51:131.85:1.00:1.00:1.00:60:42.3:0:0:96:53:36:NM_021958.3(HLX) c.772+46C>G,NM_021958.3(HLX) c.772+46C>G:0.23,0.23:0.219899,0.219899 1 221055691 . G . . NT END=221057536;NT GT ./. 1 221056626 . TACACACAC T 10 idl,rn VT=DEL;SST=Single;DP=6;NP=3;PC=0.001;Gene=HLX/NM_021958.3/1;CC=c.958-870_958-863delACACACAC;VC=Intron;DM=HLX/Homeobox;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:TACACACAC,T:4:5:0:5:1,3:24,165:0.00,10.03:0.00,6.75:0.00,3.28:0.00,0.73:0.00,0.96:0.00,0.51:60,60:25.0,54.3:0,2:0,0:86,43:40,108:0,29:-,NM_021958.3(HLX) c.958-910_958-903delACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 221056674 rs2491259 C G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3383,G/0.6617;PC=0.002;Gene=HLX/NM_021958.3/1;CC=c.958-863C>G;VC=Intron;DM=HLX/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:188:21.66:12.12:9.54:1.00:1.00:1.00:60:34.2:0:0:71:79:17:NM_021958.3(HLX) c.958-863C>G,NM_021958.3(HLX) c.958-863C>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 221058047 . A . . NT END=221875753;NT GT ./. 1 221134568 rs67238773 GCACA G 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;PC=0.001;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:GCACA,G:4:4:0:2:2,2:63,68:0.00,6.55:0.00,3.12:0.00,3.43:0.00,0.51:0.00,0.51:0.00,0.89:60,60:5.5,24.5:0,0:0,0:78,70:26,66:62,13:-,chr1 g.221134569_221134572delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 221208258 rs7528865 A G 15 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4087,G/0.5913;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:6:2:0:0:1,5:34,140:0.00,15.06:0.00,-0.03:0.00,15.09:0.00,0.99:0.00,0.98:0.00,1.00:60,60:0.0,39.6:0,0:0,0:111,95:39,55:0,2:-,chr1 g.221208257A>G (intergenic):-,0.57:-,NOT_FOUND 1 221340905 . A AGT 6 rn VT=INS;SST=Single;DP=7;NP=7;PC=0.083;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,AGT,D:6:3:2:3:2,2,2:69,68,96:0.00,6.37,6.07:0.00,1.59,1.44:0.00,4.78,4.63:0.00,0.39,0.00:0.00,0.66,0.00:0.00,0.39,0.00:60,60,60:10.5,0.0,13.5:0,0,1:0,0,0:74,38,89:67,84,61:19,22,13:-,chr1 g.221340905_221340906insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 221356101 rs148008232 TGGA T 15 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TGGA/0.1432,T/0.8568;NP=23;PC=0.036;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:5:4:164:14.52:9.00:5.52:0.96:1.00:1.00:60:5.8:1:0:51:83:26:chr1 g.221356102_221356104delGGA (intergenic),chr1 g.221356102_221356104delGGA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 221875661 . C CA 16 idl,rn VT=INS;SST=Single;DP=37;NP=6;PC=0.071;Gene=DUSP10/NR_111939.1/0;VC=NonCoding;Gene=DUSP10/NM_007207.5/1;CC=c.*92dupT;VC=3UTR;Gene=DUSP10/NR_111940.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:C,CA,D:36:36:6:7:24,6,6:755,194,216:0.00,15.68,14.59:0.00,15.88,9.80:0.00,-0.19,4.78:0.00,0.88,0.00:0.00,0.99,0.00:0.00,0.71,0.00:60,60,60:7.0,31.0,32.2:0,0,1:0,0,0:49,81,36:100,70,114:40,43,25:-,NM_007207.4(DUSP10) c.*92dupT:-,NOT_FOUND:-,NOT_FOUND 1 221876020 . C . . NT END=221879436;NT GT ./. 1 221876222 rs2280339 C T 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6891,T/0.3109;Gene=DUSP10/NR_111939.1/0;VC=NonCoding;Gene=DUSP10/NM_007207.5/1;CC=c.1184-203G>A;VC=Intron;Gene=DUSP10/NR_111940.1/0;VC=NonCoding;DM=DUSP10/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:14:0:0:0:5,9:135,277:0.00,28.03:0.00,0.00:0.00,28.03:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.0,39.8:0,0:0,0:116,109:35,41:13,20:-,NM_007207.4(DUSP10) c.1184-203G>A:-,0.34:-,NOT_FOUND 1 221879809 . C . . NT END=221910184;NT GT ./. 1 221910803 . A . . NT END=221912275;NT GT ./. 1 221913130 . C . . NT END=222695942;NT GT ./. 1 222009827 rs7544656 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8059,A/0.1941;Gene=LOC101929771/NR_125989.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:7:7:0:0:3,4:96,104:8.98,0.00:6.14,0.00:2.84,0.00:0.69,0.00:0.69,0.00:0.93,0.00:60,60:71.3,0.0:0,0:0,0:44,85:101,53:18,10:chr1 g.222009826G>A (intergenic),-:0.18,-:NOT_FOUND,- 1 222009882 rs7515782 T C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8059,C/0.1941;NP=229;Gene=LOC101929771/NR_125989.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:6:3:0:0:4,2:132,67:13.45,0.00:5.11,0.00:8.34,0.00:0.93,0.00:0.97,0.00:0.99,0.00:60,60:62.0,0.0:0,0:0,0:82,111:64,37:23,23:chr1 g.222009881T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 222017560 rs142068885 AGTGT A 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=52;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:AGTGT,A:3:4:0:5:1,2:35,133:0.00,6.64:0.00,8.50:0.00,-1.86:0.00,0.46:0.00,0.87:0.00,0.87:60,60:0.0,15.5:0,2:0,0:124,32:27,114:0,7:-,chr1 g.222017561_222017564delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222089867 rs56145137 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5022,G/0.4978;NP=266;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:5:4:0:0:2,3:70,106:0.00,10.57:0.00,5.33:0.00,5.23:0.00,0.78:0.00,0.97:0.00,0.97:60,60:0.0,70.0:1,0:0,0:42,88:65,51:20,12:-,chr1 g.222089866C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222089869 rs12026686 G C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5022,C/0.4978;NP=242;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:3:C,G,I:5:4:1:0:3,1,1:105,34,34:10.87,0.00,3.08:5.43,0.00,1.54:5.43,0.00,1.54:0.78,0.00,0.00:0.97,0.00,0.00:0.97,0.00,0.00:60,60,60:70.3,0.0,0.0:0,0,0:0,0,0:90,64,24:49,7,119:12,0,0:chr1 g.222089868G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 222301801 rs71750263 CGT C 12 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=113;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:CGT,C:7:4:0:4:3,4:96,126:0.00,12.43:0.00,6.00:0.00,6.43:0.00,0.90:0.00,0.97:0.00,0.98:60,60:0.0,7.0:0,0:0,0:48,44:103,106:32,29:-,chr1 g.222301802_222301803delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222645528 rs35723393 A G 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=102;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:27:0:0:17,12:545,370:0.00,34.18:0.00,19.51:0.00,14.68:0.00,1.00:0.00,1.00:0.00,1.00:59,49:55.3,66.9:0,0:0,0:43,45:108,106:31,40:-,chr1 g.222645527A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222645539 rs34356451 T C 108 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.003794,C/0.9962;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:26:0:0:28:944:107.75:82.55:25.20:1.00:1.00:1.00:60:63.5:0:0:54:96:43:chr1 g.222645538T>C (intergenic),chr1 g.222645538T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 222645619 rs142819883 G A 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.8742,A/0.1258;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:51:42:0:0:26,1,24:863,5,725:83.65,-0.17,0.00:51.58,-0.13,0.00:32.07,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,60:55.0,75.0,22.0:0,0,0:0,0,0:61,98,31:89,53,117:40,0,18:chr1 g.222645618G>A (intergenic),-:0.12,-:NOT_FOUND,- 1 222645957 rs35516586 C G 159 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.002995,G/0.997;NP=136;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:31:0:0:45:1375:158.84:91.44:67.40:1.00:1.00:1.00:60:53.8:0:0:74:73:39:chr1 g.222645956C>G (intergenic),chr1 g.222645956C>G (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 222646927 rs111605287 G A 107 nt VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.8914,A/0.1086;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:83:60:0:0:36,47:1141,1396:106.65,0.00:56.32,0.00:50.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.2,37.4:0,0:0,0:77,50:67,82:28,39:chr1 g.222646926G>A (intergenic),-:0.11,-:NOT_FOUND,- 1 222646986 rs35243465 A G 292 nt VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.004792,G/0.9952 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:80:53:0:0:1,79:8,2554:0.00,291.50:0.00,142.47:0.00,149.03:0.00,1.00:0.00,1.00:0.00,1.00:53,60:51.0,50.5:0,0:0,0:32,74:105,76:0,33:chr1 g.222646985A>G (intergenic),chr1 g.222646985A>G (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 1 222647110 rs79355073 C G 42 nt VT=SNV;PN=T;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;NP=88;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:139:107:0:0:123,16:3761,558:0.00,41.90:0.00,19.03:0.00,22.87:0.00,1.00:0.00,1.00:0.00,1.00:60,37:10.9,51.6:0,0:0,0:73,34:75,97:40,18:-,chr1 g.222647109C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222647588 rs190943220 C T 174 nt VT=SNV;PN=C;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=C/0.9958,T/0.004193;NP=5;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:139:92:0:0:80,59:2330,1866:0.00,173.69:0.00,86.86:0.00,86.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.9,47.3:0,0:0,0:81,84:66,59:32,35:-,chr1 g.222647587C>T (intergenic):-,0.01:-,NOT_FOUND 1 222647806 rs35583094 T C 237 nt VT=SNV;PN=G;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=T/0.1254,C/0.8746;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:147:98:0:0:1,75,1,70:10,2445,12,2142:-0.14,236.62,-0.10,0.00:-0.04,124.09,0.00,0.00:-0.10,112.53,-0.10,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,56,50,60:25.0,40.8,12.0,8.3:0,0,0,0:0,0,0,0:88,85,77,72:63,62,72,70:0,34,0,31:chr1 g.222647805T>C (intergenic),-:0.87,-:NOT_FOUND,- 1 222648280 rs71642765 A T 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.7538,T/0.2462;PC=0.803 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:83:42:0:0:43,40:1350,1260:0.00,120.09:0.00,39.20:0.00,80.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.6,38.2:0,0:0,0:77,72:74,73:32,27:-,chr1 g.222648279A>T (intergenic):-,0.24:-,NOT_FOUND 1 222648447 rs68107903 G A 58 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.6813,A/0.3187;PC=0.163 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:44:19:0:0:19,24,1:615,744,6:57.78,0.00,-0.17:20.04,0.00,-0.06:37.74,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,51:40.7,15.7,36.0:0,0,0:0,0,0:95,88,59:56,48,92:25,31,0:chr1 g.222648446G>A (intergenic),-:0.32,-:NOT_FOUND,- 1 222648604 rs34083049 T A 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1262,A/0.8738 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,T:7:0:0:0:3,4:74,130:6.72,0.00:0.00,0.00:6.72,0.00:0.69,0.00:0.00,0.00:0.69,0.00:40,43:53.3,27.2:0,0:0,0:111,81:40,70:26,21:chr1 g.222648603T>A (intergenic),-:0.78,-:NOT_FOUND,- 1 222648680 rs34529061 A G 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.002995,G/0.997,T/.;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:43:57.2:0:0:111:40:25:chr1 g.222648679A>G (intergenic),chr1 g.222648679A>G (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 222649154 rs35337889 A G 229 nt VT=SNV;PN=C;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=93;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:G:64:22:0:0:64:1992:229.26:60.29:168.96:1.00:1.00:1.00:54:41.9:1:0:88:62:31:chr1 g.222649153A>G (intergenic),chr1 g.222649153A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 222649341 rs34431997 A C 413 nt VT=SNV;PN=G;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.002995,C/0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:116:94:0:0:1,113,2:10,3620,22:0.00,413.10,0.41:0.00,278.44,0.41:0.00,134.66,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:2,60,51:93.0,41.0,24.5:0,0,0:0,0,0:108,47,72:21,100,77:0,24,32:chr1 g.222649340A>C (intergenic),chr1 g.222649340A>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 222649491 rs71642766 C G 213 nt VT=SNV;PN=T;NN=A;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.6859,G/0.3141;NP=61;PC=0.949 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:142:87:0:0:75,67:2531,2232:0.00,212.50:0.00,115.90:0.00,96.60:0.00,1.00:0.00,1.00:0.00,1.00:55,60:5.9,48.3:0,0:0,0:77,74:68,77:37,40:-,chr1 g.222649490C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222650113 rs111560241 G A 233 nt VT=SNV;PN=T;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=G/0.8636,A/0.1364;NP=37;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:179:114:0:0:84,95:2465,3178:232.65,0.00:110.92,0.00:121.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,56:41.8,11.1:0,0:0,0:68,87:78,62:36,31:chr1 g.222650112G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 222650329 rs200400055 C T 163 nt VT=SNV;PN=A;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=C/0.7033,T/0.2967;NP=57;PC=0.241 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:143:71:0:0:87,56:2608,1778:0.00,163.00:0.00,54.48:0.00,108.52:0.00,1.00:0.00,1.00:0.00,1.00:51,40:14.9,48.3:0,0:0,0:88,98:63,52:31,28:-,chr1 g.222650328C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222650534 rs71642767 T C 156 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.5789,C/0.4211 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:C:46:7:0:0:46:1342:155.89:17.20:138.69:1.00:1.00:1.00:57:43.5:0:0:119:28:16:chr1 g.222650533T>C (intergenic),chr1 g.222650533T>C (intergenic):0.4,0.4:NOT_FOUND,NOT_FOUND 1 222650610 rs375863296 A G 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=3;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:9,8:289,264:0.00,25.11:0.00,0.00:0.00,25.11:0.00,0.99:0.00,0.00:0.00,0.99:51,43:16.4,89.4:0,0:0,0:98,130:52,20:26,14:-,chr1 g.222650609A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222678313 . A C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;NP=63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C:9:7:0:0:6,3:176,103:0.00,9.25:0.00,2.79:0.00,6.46:0.00,0.64:0.00,0.92:0.00,0.92:58,49:30.3,106.3:0,0:0,0:71,98:80,51:11,21:-,chr1 g.222678312A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222696230 . C . . NT END=222696953;NT GT ./. 1 222697037 . C . . NT END=222700310;NT GT ./. 1 222697088 rs3748662 G A 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.735,A/0.265;Gene=HHIPL2/NM_024746.3/1;CC=c.1806-52C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:33:0:0:36,45:1242,1403:117.21,0.00:30.95,0.00:86.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,10.0:0,0:0,0:89,100:60,50:28,21:NM_024746.3(HHIPL2) c.1806-52C>T,-:0.26,-:0.271315,- 1 222700393 . C . . NT END=222705307;NT GT ./. 1 222700416 rs1487523 C T 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.6809,T/0.3191;Gene=HHIPL2/NM_024746.3/1;CC=c.1724-24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:18:0:0:23,20:773,584:0.00,54.92:0.00,5.51:0.00,49.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,54.0:0,0:0,0:106,76:44,72:24,27:-,NM_024746.3(HHIPL2) c.1724-24G>A:-,0.31:-,0.328925 1 222705111 rs4846372 G A 25 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.002796,A/0.9972;NP=813;Gene=HHIPL2/NM_024746.3/1;CC=c.1723+197C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,G:8:7:0:0:7,1:227,19:24.74,0.00:25.63,0.00:-0.89,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:45.0,24.0:0,0:0,0:21,88:130,63:11,0:NM_024746.3(HHIPL2) c.1723+197C>T,-:1,-:NOT_FOUND,- 1 222705270 rs4846373 T C 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.4495,C/0.5505;Gene=HHIPL2/NM_024746.3/1;CC=c.1723+38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:43:0:0:23,24:742,780:71.03,0.00:58.65,0.00:12.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,1.2:0,0:0,0:37,36:107,100:23,26:NM_024746.3(HHIPL2) c.1723+38A>G,-:0.56,-:0.484238,- 1 222705454 . C . . NT END=222711989;NT GT ./. 1 222705546 rs17163175 G A 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4828,A/0.5172;Gene=HHIPL2/NM_024746.3/1;CC=c.1578-93C>T;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:8:0:0:15,13:398,428:38.47,0.00:6.53,0.00:31.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,6.7:0,0:0,0:122,105:28,46:25,8:NM_024746.3(HHIPL2) c.1578-93C>T,-:0.53,-:NOT_FOUND,- 1 222711586 rs67978793 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=HHIPL2/NM_024746.3/1;CC=c.1577+404C>T;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:10:6:0:0:7,3:208,77:21.50,0.00:17.57,0.00:3.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,58.0:0,0:0,0:56,16:90,135:30,2:NM_024746.3(HHIPL2) c.1577+404C>T,-:0.51,-:NOT_FOUND,- 1 222711765 rs67188853 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4858,G/.,T/0.5142;Gene=HHIPL2/NM_024746.3/1;CC=c.1577+225G>A;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,G,T,D:9:6:0:2:3,1,4,1:72,29,94,67:0.00,2.24,9.02,2.54:0.00,-0.09,6.03,2.59:0.00,2.33,2.99,-0.05:0.00,0.00,0.84,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.94,0.00:60,60,60,60:37.0,34.0,23.5,0.0:0,1,0,1:0,0,0,0:139,30,124,45:9,121,24,105:10,0,12,23:-,NM_024746.3(HHIPL2) c.1577+225G>A:-,NOT_FOUND:-,NOT_FOUND 1 222712117 . C . . NT END=222713351;NT GT ./. 1 222712354 rs4846764 C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6246,T/0.3754;Gene=HHIPL2/NM_024746.3/1;CC=c.1451-238G>A;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,T:9:0:0:0:6,3:189,84:0.00,7.34:0.00,0.00:0.00,7.34:0.00,0.64:0.00,0.00:0.00,0.64:60,60:10.0,34.3:0,0:0,0:109,72:42,79:7,22:-,NM_024746.3(HHIPL2) c.1451-238G>A:-,0.38:-,NOT_FOUND 1 222713093 rs35280999 T C 6 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6244,C/0.3756;Gene=HHIPL2/NM_024746.3/1;CC=c.1450+259A>G;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:6:6:0:0:2,4:71,106:6.41,0.00:6.41,0.00:0.00,0.00:0.42,0.00:0.42,0.00:0.00,0.00:60,60:83.5,42.0:0,0:0,0:57,45:92,105:11,12:NM_024746.3(HHIPL2) c.1450+259A>G,-:0.38,-:NOT_FOUND,- 1 222713208 rs35746652 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6246,A/0.3754;Gene=HHIPL2/NM_024746.3/1;CC=c.1450+144C>T;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:15:15:0:0:5,10:170,260:15.25,0.00:15.25,0.00:0.00,0.00:0.89,0.00:0.89,0.00:0.00,0.00:60,60:38.0,4.7:0,0:0,0:17,47:134,102:11,23:NM_024746.3(HHIPL2) c.1450+144C>T,-:0.38,-:NOT_FOUND,- 1 222713503 rs3748664 C G 163 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.6244,G/0.3756,T/.;Gene=HHIPL2/NM_024746.3/1;CC=c.1299G>C;ProtCh=p.T433=;VC=Silent;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:146:107:0:0:1,89,56:17,2892,1778:0.04,0.00,162.55:-0.14,0.00,85.89:0.17,0.00,76.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:180.0,6.4,40.8:0,0,0:0,0,0:93,79,66:56,66,77:0,39,31:-,NM_024746.3(HHIPL2) c.1299G>C (p.(=)):-,0.38:-,0.303783 1 222713631 rs3748666 G C 128 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.6244,C/0.3756;Gene=HHIPL2/NM_024746.3/1;CC=c.1171C>G;ProtCh=p.H391D;VC=Missense;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:92:54:0:0:39,53:1361,1701:127.53,0.00:66.99,0.00:60.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.0,8.5:0,0:0,0:76,98:73,53:34,30:NM_024746.3(HHIPL2) c.1171C>G (p.His391Asp),-:0.38,-:0.303937,- 1 222713684 . C . . NT END=222715353;NT GT ./. 1 222713750 rs3828079 G A 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.4501,A/0.5499;Gene=HHIPL2/NM_024746.3/1;CC=c.1119-67C>T;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:6:0:0:21,13:601,413:60.21,0.00:6.71,0.00:53.50,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:45.6,10.4:0,0:0,0:103,96:48,55:28,32:NM_024746.3(HHIPL2) c.1119-67C>T,-:0.56,-:NOT_FOUND,- 1 222715247 rs11487812 A G 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.4495,G/0.5505;Gene=HHIPL2/NM_024746.3/1;CC=c.1118+107T>C;VC=Intron;DM=HHIPL2/GSDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:31:0:0:13,18:403,588:0.00,58.23:0.00,54.59:0.00,3.64:0.00,1.00:0.00,1.00:0.00,0.85:60,60:3.8,42.2:0,0:0,0:36,42:115,107:25,33:-,NM_024746.3(HHIPL2) c.1118+107T>C:-,0.56:-,NOT_FOUND 1 222715498 . C . . NT END=222716878;NT GT ./. 1 222715729 rs397726669 CAG C 14 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=32;PC=0.054;Gene=HHIPL2/NM_024746.3/1;CC=c.975-234_975-233delCT;VC=Intron;DM=HHIPL2/GSDH;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:CAG,C:9:1:0:5:4,5:139,145:0.00,14.20:0.00,2.82:0.00,11.37:0.00,0.96:0.00,0.70:0.00,1.00:60,70:0.0,21.8:0,0:0,0:98,92:52,59:38,47:-,NM_024746.3(HHIPL2) c.975-234_975-233delCT:-,0.36:-,NOT_FOUND 1 222717532 . C . . NT END=222721065;NT GT ./. 1 222717698 rs17163185 T C 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6254,C/0.3746;Gene=HHIPL2/NM_024746.3/1;CC=c.322-167A>G;VC=Intron;DM=HHIPL2/Folate_rec GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:0:0:0:15,12:458,380:44.85,0.00:0.00,0.00:44.85,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.2,14.6:0,0:0,0:81,77:70,73:22,23:NM_024746.3(HHIPL2) c.322-167A>G,-:0.38,-:NOT_FOUND,- 1 222717788 rs17163186 A G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6258,G/0.3742;Gene=HHIPL2/NM_024746.3/1;CC=c.322-257T>C;VC=Intron;DM=HHIPL2/Folate_rec GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:7:0:0:0:3,4:97,138:0.00,13.63:0.00,0.00:0.00,13.63:0.00,0.90:0.00,0.00:0.00,0.90:60,60:3.7,55.2:0,0:0,0:136,106:14,42:2,21:-,NM_024746.3(HHIPL2) c.322-257T>C:-,0.38:-,NOT_FOUND 1 222721288 rs4846382 C T 196 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=156;DB;DBA=NA;PAF=C/0.4181,T/0.5819;Gene=HHIPL2/NM_024746.3/1;CC=c.99G>A;ProtCh=p.L33=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:93:0:0:88,68:2803,2101:0.00,196.01:0.00,65.55:0.00,130.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,43.8:0,0:0,0:73,83:70,57:28,39:-,NM_024746.3(HHIPL2) c.99G>A (p.(=)):-,0.57:-,0.541956 1 222721387 . T . . NT END=222732001;NT GT ./. 1 222732051 rs143557200 C T 67 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.996,T/0.003994;NP=56;PC=0.035;Gene=TAF1A/NM_001201536.1/1;CC=c.1304G>A;ProtCh=p.R435Q;VC=Missense;Gene=TAF1A/NM_139352.2/0;CC=c.962G>A;ProtCh=p.R321Q;VC=Missense;Gene=TAF1A/NM_005681.3/0;CC=c.1304G>A;ProtCh=p.R435Q;VC=Missense;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:29:0:0:16,20:467,683:0.00,67.10:0.00,52.66:0.00,14.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,37.5:0,0:0,0:29,46:96,104:19,16:-,NM_001201536.1(TAF1A) c.1304G>A (p.Arg435Gln):-,0.0046:-,0.005705 1 222732115 . C . . NT END=222734705;NT GT ./. 1 222734662 rs149239943 TC T 76 nt VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=TC/0.9093,T/0.09065;NP=879;Gene=TAF1A/NM_001201536.1/1;CC=c.1240+43delG;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.898+43delG;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.1240+43delG;VC=Intron;DM=TAF1A/TAF1_subA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:58:54:0:25:33,25:1041,808:0.00,75.55:0.00,47.50:0.00,28.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,3.7:0,0:0,0:57,60:88,87:42,26:-,NM_001201536.1(TAF1A) c.1240+43delG:-,0.1:-,0.140438 1 222734803 rs1134898 G C 148 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.6875,C/0.3125,T/.;PC=0.302;Gene=TAF1A/NM_001201536.1/1;CC=c.1143C>G;ProtCh=p.G381=;VC=Silent;Gene=TAF1A/NM_139352.2/0;CC=c.801C>G;ProtCh=p.G267=;VC=Silent;Gene=TAF1A/NM_005681.3/0;CC=c.1143C>G;ProtCh=p.G381=;VC=Silent;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:93:62:0:0:47,46:1532,1538:147.65,0.00:69.24,0.00:78.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,8.0:0,0:0,0:93,78:53,72:36,24:NM_001201536.1(TAF1A) c.1143C>G (p.(=)),-:0.36,-:0.355836,- 1 222734861 . C . . NT END=222736514;NT GT ./. 1 222735113 rs34478208 T G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6867,G/0.3133;Gene=TAF1A/NM_001201536.1/1;CC=c.1086-253A>C;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.744-253A>C;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.1086-253A>C;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:G,T:5:0:0:0:4,1:141,31:14.92,0.00:0.00,0.00:14.92,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:35.2,13.0:0,0:0,0:124,146:27,3:10,0:NM_001201536.1(TAF1A) c.1086-253A>C,-:0.36,-:NOT_FOUND,- 1 222736405 rs11485179 A G 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.6863,G/0.3137;Gene=TAF1A/NM_001201536.1/1;CC=c.1085+110T>C;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.743+110T>C;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.1085+110T>C;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:18:0:0:8,11:253,374:0.00,37.03:0.00,31.47:0.00,5.56:0.00,1.00:0.00,1.00:0.00,0.85:60,60:12.9,39.1:0,0:0,0:39,36:110,115:32,26:-,NM_001201536.1(TAF1A) c.1085+110T>C:-,0.31:-,NOT_FOUND 1 222736639 . C . . NT END=222737400;NT GT ./. 1 222737265 rs35877231 G T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.003395,T/0.9966;NP=2302;Gene=TAF1A/NM_001201536.1/1;CC=c.961+136C>A;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.619+136C>A;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.961+136C>A;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:234:26.74:26.74:0.00:1.00:1.00:0.00:60:33.4:0:0:58:93:15:NM_001201536.1(TAF1A) c.961+136C>A,NM_001201536.1(TAF1A) c.961+136C>A:1,1:NOT_FOUND,NOT_FOUND 1 222737468 . C . . NT END=222742571;NT GT ./. 1 222737568 rs3008640 C T 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2979;PC=0.015;Gene=TAF1A/NM_001201536.1/1;CC=c.895-101G>A;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.553-101G>A;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.895-101G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:177:20.52:0.00:20.52:1.00:0.00:1.00:60:29.5:0:0:108:41:20:NM_001201536.1(TAF1A) c.895-101G>A,NM_001201536.1(TAF1A) c.895-101G>A:1,1:NOT_FOUND,NOT_FOUND 1 222742434 rs3008642 A C 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2871,C/0.7129;Gene=TAF1A/NM_001201536.1/1;CC=c.894+418T>G;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.552+418T>G;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.894+418T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:322:37.42:37.42:0.00:1.00:1.00:0.00:60:33.8:0:0:58:91:38:NM_001201536.1(TAF1A) c.894+418T>G,NM_001201536.1(TAF1A) c.894+418T>G:0.75,0.75:NOT_FOUND,NOT_FOUND 1 222742676 rs4846766 T C 90 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.4042,C/0.5958;Gene=TAF1A/NM_001201536.1/1;CC=c.894+176A>G;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.552+176A>G;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.894+176A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:48:0:0:30,34:952,1045:90.22,0.00:49.57,0.00:40.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,12.4:0,0:0,0:87,68:63,77:22,48:NM_001201536.1(TAF1A) c.894+176A>G,-:0.62,-:NOT_FOUND,- 1 222742767 . C . . NT END=222742851;NT GT ./. 1 222743011 . C . . NT END=222743876;NT GT ./. 1 222743238 rs3002144 C T 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=347;Gene=TAF1A/NM_001201536.1/1;CC=c.736-228G>A;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.394-228G>A;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.736-228G>A;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:163:18.68:0.00:18.68:1.00:0.00:1.00:60:39.0:0:0:98:53:5:NM_001201536.1(TAF1A) c.736-228G>A,NM_001201536.1(TAF1A) c.736-228G>A:1,1:NOT_FOUND,NOT_FOUND 1 222744008 . C . . NT END=222750786;NT GT ./. 1 222750626 rs113017227 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9996,C/0.0003994;NP=1;PC=0.063;Gene=TAF1A/NM_001201536.1/1;CC=c.604+161A>G;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.262+161A>G;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.604+161A>G;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:7:7:0:0:3,4:103,126:9.66,0.00:9.66,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:34.3,0.5:0,0:0,0:39,31:112,119:23,21:NM_001201536.1(TAF1A) c.604+161A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 222750986 . C . . NT END=222753100;NT GT ./. 1 222751034 rs2936033 T C 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.4541,C/0.5459;Gene=TAF1A/NM_001201536.1/1;CC=c.406-49A>G;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.64-49A>G;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.406-49A>G;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:8:0:0:15,16:517,503:49.53,0.00:4.53,0.00:45.00,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:36.9,2.1:0,0:0,0:132,104:18,46:11,21:NM_001201536.1(TAF1A) c.406-49A>G,-:0.59,-:0.610385,- 1 222752859 rs1982983 G C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9042,C/0.09585;PC=0.001;Gene=TAF1A/NM_001201536.1/1;CC=c.405+242C>G;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.63+242C>G;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.405+242C>G;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,G:9:9:0:0:7,2:238,67:25.07,0.00:25.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.7,0.0:0,0:0,0:54,95:97,55:37,14:NM_001201536.1(TAF1A) c.405+242C>G,-:0.1,-:NOT_FOUND,- 1 222753233 . C . . NT END=222757469;NT GT ./. 1 222757179 . C CA 14 rn VT=INS;SST=Single;DP=5;NP=11;PC=0.008;Gene=TAF1A/NM_001201536.1/1;CC=c.291+290_291+291insT;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.-51-3966_-51-3965insT;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.291+290_291+291insT;VC=Intron;DM=TAF1A/TAF1_subA;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CA:5:5:4:0:1,4:35,127:0.00,13.52:0.00,13.52:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,10.0:0,0:0,0:122,36:17,114:0,4:-,NM_001201536.1(TAF1A) c.291+290_291+291insT:-,NOT_FOUND:-,NOT_FOUND 1 222757640 . C . . NT END=222761784;NT GT ./. 1 222761601 rs1024065 T C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9115,C/0.08846;PC=0.099;Gene=TAF1A/NM_001201536.1/1;CC=c.121+184A>G;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.-52+184A>G;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.121+184A>G;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:17:17:0:0:1,7,9:12,204,296:0.32,18.97,0.00:0.32,18.97,0.00:0.00,0.00,0.00:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.00,0.00:60,60,60:201.0,59.9,26.9:0,0,0:0,0,0:123,41,75:-10,110,76:0,23,58:NM_001201536.1(TAF1A) c.121+184A>G,-:0.09,-:NOT_FOUND,- 1 222761649 rs4525045 C A 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3109,A/0.6891;Gene=TAF1A/NM_001201536.1/1;CC=c.121+136G>T;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.-52+136G>T;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.121+136G>T;VC=Intron;DM=TAF1A/TAF1_subA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:26:0:0:11,15:364,475:33.96,0.00:34.08,0.00:-0.12,0.00:1.00,0.00:1.00,0.00:0.62,0.00:60,60:36.8,30.1:0,0:0,0:53,38:98,113:27,20:NM_001201536.1(TAF1A) c.121+136G>T,-:0.69,-:NOT_FOUND,- 1 222761906 . A . . NT END=222791452;NT GT ./. 1 222762200 rs74148140 T C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9321,C/0.06789;Gene=TAF1A/NM_001201536.1/1;CC=c.-2-293A>G;VC=Intron;Gene=TAF1A/NM_139352.2/0;CC=c.-174-293A>G;VC=Intron;Gene=TAF1A/NM_005681.3/0;CC=c.-2-293A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:6:0:0:0:4,2:120,65:12.25,0.00:0.00,0.00:12.25,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:39.0,7.0:0,0:0,0:83,124:68,27:32,18:NM_001201536.1(TAF1A) c.-2-293A>G,-:0.08,-:NOT_FOUND,- 1 222791321 . T C 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:109:12.77:3.78:8.99:1.00:1.00:1.00:60:49.2:0:0:63:72:55:NM_198551.2(MIA3) c.-9-u123T>C,NM_198551.2(MIA3) c.-9-u123T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 222791586 . G . . NT END=222794500;NT GT ./. 1 222791907 rs3008610 A G 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2244,G/0.7756;PC=0.003;Gene=MIA3/NM_198551.3/1;CC=c.133+322A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:211:24.38:2.04:22.34:1.00:1.00:1.00:60:56.1:0:0:103:48:16:NM_198551.2(MIA3) c.133+322A>G,NM_198551.2(MIA3) c.133+322A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 1 222794232 rs3008611 G A 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.0629,A/0.9371;Gene=MIA3/NM_198551.3/1;CC=c.134-269G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:160:18.38:18.38:0.00:1.00:1.00:0.00:60:100.8:0:0:52:91:8:NM_198551.2(MIA3) c.134-269G>A,NM_198551.2(MIA3) c.134-269G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 222794635 . G . . NT END=222798109;NT GT ./. 1 222798106 rs3008617 G A 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.001597,A/0.9984;NP=3442;Gene=MIA3/NM_198551.3/1;CC=c.268-4G>A;VC=Intron;DM=MIA3/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:16:0:0:18:571:65.68:50.17:15.51:1.00:1.00:1.00:60:35.4:0:0:48:102:23:NM_198551.2(MIA3) c.268-4G>A,NM_198551.2(MIA3) c.268-4G>A:1,1:0.996119,0.996119 1 222798197 . G . . NT END=222800916;NT GT ./. 1 222802006 rs2936053 A G 395 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.004393,C/.,G/0.9956;PC=0.006;Gene=MIA3/NM_198551.3/1;CC=c.1444A>G;ProtCh=p.K482E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:103:62:0:0:103:3462:395.26:202.52:192.74:1.00:1.00:1.00:60:44.1:0:0:69:75:33:NM_198551.2(MIA3) c.1444A>G (p.Lys482Glu),NM_198551.2(MIA3) c.1444A>G (p.Lys482Glu):1,1:0.992691,0.992691 1 222802803 rs3748626 T G 422 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.4926,A/.,G/0.5074;Gene=MIA3/NM_198551.3/1;CC=c.2241T>G;ProtCh=p.P747=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:123:74:0:0:1,122:5,3647:0.02,421.83:0.00,199.47:0.02,222.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:160.0,40.7:0,0:0,0:87,60:63,87:0,30:NM_198551.2(MIA3) c.2241T>G (p.(=)),NM_198551.2(MIA3) c.2241T>G (p.(=)):0.56,0.56:0.585178,0.585178 1 222802926 rs3008620 C T 453 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=C/0.1995,T/0.8005;Gene=MIA3/NM_198551.3/1;CC=c.2364C>T;ProtCh=p.S788=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:127:79:0:0:1,1,125:13,14,3949:0.16,0.20,453.47:0.16,0.00,233.30:0.00,0.20,220.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.0,111.0,42.9:0,0,0:0,0,0:55,5,77:95,146,72:0,0,28:NM_198551.2(MIA3) c.2364C>T (p.(=)),NM_198551.2(MIA3) c.2364C>T (p.(=)):0.83,0.83:0.79995,0.79995 1 222803732 . G . . NT END=222805506;NT GT ./. 1 222805669 . G . . NT END=222806445;NT GT ./. 1 222806218 rs17163345 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4916,G/0.5084;Gene=MIA3/NM_198551.3/1;CC=c.3332-228A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:261:29.91:29.91:0.00:1.00:1.00:0.00:60:37.1:0:0:62:87:22:NM_198551.2(MIA3) c.3332-228A>G,NM_198551.2(MIA3) c.3332-228A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 1 222806592 . G . . NT END=222817649;NT GT ./. 1 222817929 . G . . NT END=222818895;NT GT ./. 1 222818115 . CT C 10 idl,rn VT=DEL;SST=Single;DP=21;NP=4;PC=0.001;Gene=MIA3/NM_198551.3/1;CC=c.3478-767delT;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.111+201delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CT,T,I,C:20:0:2:5:13,1,2,4:402,33,61,148:0.00,2.18,4.45,9.84:0.00,0.00,0.00,0.00:0.00,2.18,4.45,9.84:0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.70:60,60,60,60:18.5,33.0,0.0,12.5:0,0,0,1:0,0,0,0:123,134,89,75:28,16,62,76:23,0,32,26:-,NM_198551.2(MIA3) c.3478-780delT:-,NOT_FOUND:-,NOT_FOUND 1 222819028 . G . . NT END=222822170;NT GT ./. 1 222822193 . G . . NT END=222823633;NT GT ./. 1 222823529 rs17465637 A C 44 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4962,C/0.5038;Gene=MIA3/NM_198551.3/1;CC=c.3632-105A>C;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.266-105A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:382:43.92:41.93:1.99:1.00:1.00:1.00:60:31.8:0:0:41:110:36:NM_198551.2(MIA3) c.3632-105A>C,NM_198551.2(MIA3) c.3632-105A>C:0.55,0.55:NOT_FOUND,NOT_FOUND 1 222823723 . G . . NT END=222823975;NT GT ./. 1 222823743 rs67180937 T G 109 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.507,G/0.493;Gene=MIA3/NM_198551.3/1;CC=c.3720+21T>G;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.354+21T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G,T:30:18:0:0:29,1:969,11:109.05,0.00:45.30,0.00:63.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,9.0:0,0:0,0:105,30:45,120:21,0:NM_198551.2(MIA3) c.3720+21T>G,NM_198551.2(MIA3) c.3720+21T>G:0.54,0.54:0.592196,0.592196 1 222824054 . G . . NT END=222824134;NT GT ./. 1 222824246 . G . . NT END=222825318;NT GT ./. 1 222825088 rs17011681 C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5074,G/0.4926;Gene=MIA3/NM_198551.3/1;CC=c.3910-231C>G;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.544-231C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:113:13.16:13.16:0.00:1.00:1.00:0.00:60:45.5:0:0:52:95:23:NM_198551.2(MIA3) c.3910-231C>G,NM_198551.2(MIA3) c.3910-231C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 222825391 . G . . NT END=222825569;NT GT ./. 1 222825403 rs3002150 G A 123 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.06749,A/0.9325;Gene=MIA3/NM_198551.3/1;CC=c.3981+13G>A;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.615+13G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:20:0:0:33:1074:123.14:63.16:59.98:1.00:1.00:1.00:60:36.4:0:0:73:77:43:NM_198551.2(MIA3) c.3981+13G>A,NM_198551.2(MIA3) c.3981+13G>A:0.95,0.95:0.957836,0.957836 1 222825675 . G . . NT END=222826349;NT GT ./. 1 222825717 rs10495198 T C 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4962,C/0.5038;Gene=MIA3/NM_198551.3/1;CC=c.4086+43T>C;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.720+43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A,C:29:7:0:0:1,28:8,858:0.18,98.67:0.00,15.15:0.18,83.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,63.8:0,0:0,0:92,94:58,55:0,37:NM_198551.2(MIA3) c.4086+43T>C,NM_198551.2(MIA3) c.4086+43T>C:0.55,0.55:0.57993,0.57993 1 222825761 rs2936019 G A 79 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.06749,A/0.9325;Gene=MIA3/NM_198551.3/1;CC=c.4086+87G>A;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.720+87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:1:0:0:21:687:78.68:1.94:76.74:1.00:1.00:1.00:60:75.7:0:0:103:48:33:NM_198551.2(MIA3) c.4086+87G>A,NM_198551.2(MIA3) c.4086+87G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 1 222826473 . G . . NT END=222826569;NT GT ./. 1 222826481 rs2291832 G A 227 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.5152,A/0.4848,C/.;Gene=MIA3/NM_198551.3/1;CC=c.4209+9G>A;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.843+9G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:A:61:40:0:0:61:1977:226.68:124.31:102.37:1.00:1.00:1.00:60:41.3:0:0:79:68:38:NM_198551.2(MIA3) c.4209+9G>A,NM_198551.2(MIA3) c.4209+9G>A:0.54,0.54:0.574174,0.574174 1 222826682 . G . . NT END=222827584;NT GT ./. 1 222826847 rs2291833 A T 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2202,T/0.7798;Gene=MIA3/NM_198551.3/1;CC=c.4321+166A>T;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.955+166A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:1:0:0:8:258:29.61:3.68:25.94:1.00:1.00:1.00:60:46.9:0:0:128:21:9:NM_198551.2(MIA3) c.4321+166A>T,NM_198551.2(MIA3) c.4321+166A>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 222827641 . G . . NT END=222827730;NT GT ./. 1 222827822 . G . . NT END=222827996;NT GT ./. 1 222828136 . G . . NT END=222832063;NT GT ./. 1 222832010 rs35822937 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.9339,G/0.06609;Gene=MIA3/NM_198551.3/1;CC=c.4608-54A>G;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.1242-54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:23:19:0:0:12,10,1:389,277,14:0.00,25.83,0.38:0.00,19.96,0.45:0.00,5.87,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.97,0.00:60,60,60:7.3,43.3,124.0:0,0,0:0,0,0:29,35,66:121,113,84:22,27,0:-,NM_198551.2(MIA3) c.4608-54A>G:-,0.09:-,NOT_FOUND 1 222832166 . G . . NT END=222832794;NT GT ./. 1 222832295 rs2291834 T C 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.507,C/0.493;Gene=MIA3/NM_198551.3/1;CC=c.4709+130T>C;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.1343+130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:284:32.69:0.00:32.69:1.00:0.00:1.00:60:50.1:0:0:112:39:32:NM_198551.2(MIA3) c.4709+130T>C,NM_198551.2(MIA3) c.4709+130T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 1 222832856 . G . . NT END=222832963;NT GT ./. 1 222833000 . G . . NT END=222833075;NT GT ./. 1 222833144 . G . . NT END=222833247;NT GT ./. 1 222833349 . G . . NT END=222833518;NT GT ./. 1 222833601 rs3002153 T C 187 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.004992,T/0.995;NP=3458;Gene=MIA3/NM_198551.3/1;CC=c.5058T>C;ProtCh=p.P1686=;VC=Silent;Gene=MIA3/NM_001300867.1/0;CC=c.1692T>C;ProtCh=p.P564=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:C:54:37:0:0:54:1615:187.02:98.13:88.89:1.00:1.00:1.00:60:38.3:0:0:98:52:28:NM_198551.2(MIA3) c.=,NM_198551.2(MIA3) c.=:1,1:0.992351,0.992351 1 222833657 . G . . NT END=222835397;NT GT ./. 1 222835467 . G . . NT END=222835594;NT GT ./. 1 222835675 . G . . NT END=222835799;NT GT ./. 1 222835872 . G . . NT END=222837339;NT GT ./. 1 222837491 . G . . NT END=222838650;NT GT ./. 1 222837594 rs2270707 G A 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.347,A/0.653;Gene=MIA3/NM_198551.3/1;CC=c.5413+104G>A;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.2047+104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:2:0:0:28:834:96.61:3.83:92.78:1.00:1.00:1.00:60:40.7:0:0:105:44:32:NM_198551.2(MIA3) c.5413+104G>A,NM_198551.2(MIA3) c.5413+104G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 1 222838539 . CAA C 10 idl,rn VT=DEL;SST=Single;DP=17;Gene=MIA3/NM_198551.3/1;CC=c.5414-89_5414-88delAA;VC=Intron;Gene=MIA3/NM_001300867.1/0;CC=c.2048-89_2048-88delAA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:CAA,C:12:17:0:9:8,4:246,241:0.00,9.66:0.00,9.66:0.00,0.00:0.00,0.74:0.00,0.74:0.00,0.00:60,60:61.0,130.2:0,5:0,0:85,25:51,108:57,21:-,NM_198551.2(MIA3) c.5414-111_5414-110delAA:-,NOT_FOUND:-,NOT_FOUND 1 222838962 . A . . NT END=222843234;NT GT ./. 1 222843332 . C . . NT END=222843474;NT GT ./. 1 222843593 . C . . NT END=222846654;NT GT ./. 1 222846778 . C . . NT END=222849437;NT GT ./. 1 222846868 . T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;Gene=AIDA/NM_022831.2/1;CC=c.584-91A>G;VC=Intron;DM=AIDA/Aida_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,T:42:15:0:0:3,39:106,1213:7.34,0.00:1.19,0.00:6.15,0.00:0.36,0.00:0.56,0.00:0.84,0.00:60,60:149.3,33.0:0,0:0,0:103,109:24,42:2,20:NM_022831.2(AIDA) c.584-91A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 222846882 rs12138316 G A 116 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.5152,A/0.4848;Gene=AIDA/NM_022831.2/1;CC=c.584-105C>T;VC=Intron;DM=AIDA/Aida_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,G,T:37:11:0:0:34,2,1:1035,70,10:116.20,0.00,0.21:19.68,0.00,0.23:96.53,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.0,138.5,61.0:0,0,0:0,0,0:109,116,126:41,10,25:16,1,0:NM_022831.2(AIDA) c.584-105C>T,NM_022831.2(AIDA) c.584-105C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 222849561 . C . . NT END=222860271;NT GT ./. 1 222860411 . C . . NT END=222860936;NT GT ./. 1 222860734 rs3008638 C T 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.001597,T/0.9984;NP=626;Gene=AIDA/NM_022831.2/1;CC=c.353+203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:4:0:0:7:212:24.53:14.41:10.13:1.00:1.00:1.00:60:39.3:0:0:65:85:17:NM_022831.2(AIDA) c.353+203G>A,NM_022831.2(AIDA) c.353+203G>A:1,1:NOT_FOUND,NOT_FOUND 1 222861001 . C . . NT END=222867130;NT GT ./. 1 222867186 . C . . NT END=222867551;NT GT ./. 1 222867606 . C . . NT END=222876489;NT GT ./. 1 222876560 . C . . NT END=222885549;NT GT ./. 1 222886074 . G . . NT END=222886085;NT GT ./. 1 222886119 rs3811465 A G 1095 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=286;DB;DBA=NA;PAF=A/0.2428,G/0.7572;PC=0.999;Gene=BROX/NR_109927.1/0;VC=NonCoding;Gene=BROX/NM_001288579.1/0;CC=c.-182A>G;VC=5UTR;Gene=BROX/NM_144695.3/1;CC=c.-182A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:286:200:0:0:286:9586:1094.59:554.83:539.76:1.00:1.00:1.00:60:41.0:0:0:88:57:32:NM_144695.2(BROX) c.=,NM_144695.2(BROX) c.=:0.78,0.78:NOT_FOUND,NOT_FOUND 1 222886398 . G . . NT END=222886615;NT GT ./. 1 222886759 . G . . NT END=222889025;NT GT ./. 1 222889143 . G . . NT END=222892266;NT GT ./. 1 222892374 . G . . NT END=222892604;NT GT ./. 1 222892702 . G . . NT END=222895760;NT GT ./. 1 222895857 . G . . NT END=222897433;NT GT ./. 1 222897507 . G . . NT END=222898791;NT GT ./. 1 222898898 . G . . NT END=222900509;NT GT ./. 1 222900600 . G . . NT END=222902084;NT GT ./. 1 222902171 . G . . NT END=222902961;NT GT ./. 1 222903044 . G . . NT END=222903368;NT GT ./. 1 222903520 . G . . NT END=222904698;NT GT ./. 1 222904859 . G . . NT END=222905969;NT GT ./. 1 222906057 . A . . NT END=222919887;NT GT ./. 1 222919748 rs2378606 G A 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2149,A/0.7851;PC=0.994;Gene=FAM177B/NM_207468.2/1;CC=c.-15-125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:445:51.17:51.17:0.00:1.00:1.00:0.00:60:40.4:0:0:58:93:32:NM_207468.2(FAM177B) c.-15-125G>A,NM_207468.2(FAM177B) c.-15-125G>A:0.81,0.81:NOT_FOUND,NOT_FOUND 1 222919895 rs2378607 T G 157 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.4107,G/0.5893;PC=1.000;Gene=FAM177B/NM_207468.2/1;CC=c.8T>G;ProtCh=p.I3S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:35:0:0:43:1364:156.84:114.35:42.50:1.00:1.00:1.00:60:37.7:0:0:46:102:32:NM_207468.2(FAM177B) c.8T>G (p.Ile3Ser),NM_207468.2(FAM177B) c.8T>G (p.Ile3Ser):0.63,0.63:0.547901,0.547901 1 222920062 . G . . NT END=222920356;NT GT ./. 1 222920424 . G . . NT END=222922806;NT GT ./. 1 222922905 . G . . NT END=222923262;NT GT ./. 1 222923001 rs2068814 A G 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4117,G/0.5883;Gene=FAM177B/NM_207468.2/1;CC=c.339+97A>G;VC=Intron;DM=FAM177B/FAM177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:4:0:0:11:346:39.84:13.71:26.14:1.00:1.00:1.00:60:35.5:0:0:79:72:57:NM_207468.2(FAM177B) c.339+97A>G,NM_207468.2(FAM177B) c.339+97A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 222923351 rs6683071 A G 331 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.2085,G/0.7915;Gene=FAM177B/NM_207468.2/1;CC=c.428A>G;ProtCh=p.Q143R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:93:68:0:0:93:2874:331.40:185.18:146.22:1.00:1.00:1.00:60:35.4:0:0:54:88:35:NM_207468.2(FAM177B) c.428A>G (p.Gln143Arg),NM_207468.2(FAM177B) c.428A>G (p.Gln143Arg):0.81,0.81:0.796332,0.796332 1 222923839 rs2378608 A G 294 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.0637,G/0.9363;Gene=FAM177B/NM_207468.2/1;CC=c.*439A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:38:0:0:82:2555:294.35:111.78:182.56:1.00:1.00:1.00:60:37.8:0:0:79:70:39:NM_207468.2(FAM177B) c.*439A>G,NM_207468.2(FAM177B) c.*439A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 222924003 . G . . NT END=223116165;NT GT ./. 1 222924147 rs67590420 CA C 13 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CA/0.3768,C/0.6232;DB;DBA=NA;PAF=CA/0.3768,C/0.6232;DB;DBA=NA;PAF=CA/0.3768,C/0.6232;NP=278;PC=0.021;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:CA,C:8:0:0:6:3,5:76,155:0.00,12.55:0.00,0.00:0.00,12.55:0.00,0.96:0.00,0.00:0.00,0.96:60,60:37.7,46.2:0,1:0,0:123,84:28,59:22,19:-,chr1 g.222924148delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 222976701 rs17011765 T C 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2198,C/0.7802;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:3:0:0:2,2:66,70:6.35,0.00:1.49,0.00:4.86,0.00:0.51,0.00:0.89,0.00:0.51,0.00:60,60:39.0,0.0:0,0:0,0:84,44:66,104:16,24:chr1 g.222976700T>C (intergenic),-:0.78,-:NOT_FOUND,- 1 222976736 . GGT G,GGTGT 7 nt VT=DEL;SST=Single;DP=4;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:11:GGT,GGTGT,G:4:2:1:2:1,1,2:12,24,67:0.00,2.15,6.76:0.00,-0.06,1.59:0.00,2.21,5.17:0.00,0.00,0.51:0.00,0.00,0.79:0.00,0.00,0.51:60,60,60:46.0,32.0,0.0:0,0,0:0,0,0:135,103,87:16,47,63:0,0,17:chr1 g.222976737_222976738delGT (intergenic),chr1 g.222976738_222976739insGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 223116240 rs61746477 G A 254 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=160;DB;DBA=NA;PAF=G/0.8836,A/0.1164;Gene=DISP1/NM_032890.3/1;CC=c.75G>A;ProtCh=p.P25=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:160:119:0:0:84,76:2620,2304:254.04,0.00:151.94,0.00:102.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,9.0:0,0:0,0:82,59:63,88:35,25:NM_032890.3(DISP1) c.75G>A (p.(=)),-:0.1,-:0.084038,- 1 223116675 . G . . NT END=223156421;NT GT ./. 1 223156214 rs2926160 C T 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.02596,T/0.974;Gene=DISP1/NM_032890.3/1;CC=c.510-208C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:197:22.56:22.56:0.00:1.00:1.00:0.00:60:45.8:0:0:76:73:24:NM_032890.3(DISP1) c.510-208C>T,NM_032890.3(DISP1) c.510-208C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 223156280 . CT C,CTTT 6 idl,nt VT=INS;SST=Single;DP=7;NP=36;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:34:CT,T,CTTT,C:6:7:3:2:1,1,2,2:31,24,99,65:0.00,1.97,6.32,6.22:0.00,1.97,6.32,6.22:0.00,0.00,0.00,0.00:0.00,0.00,0.39,0.00:0.00,0.00,0.39,0.00:0.00,0.00,0.00,0.00:60,60,60,60:32.0,81.0,33.5,33.5:0,1,1,0:0,0,0,0:130,118,48,17:21,33,103,129:0,0,37,14:NM_032890.3(DISP1) c.510-141delT,NM_032890.3(DISP1) c.510-141T[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 223156382 rs2926159 C T 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=3458;PC=0.001;Gene=DISP1/NM_032890.3/1;CC=c.510-40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:12:0:0:16:532:60.83:38.22:22.61:1.00:1.00:1.00:60:45.0:0:0:82:67:12:NM_032890.3(DISP1) c.510-40C>T,NM_032890.3(DISP1) c.510-40C>T:1,1:0.999846,0.999846 1 223156452 . G . . NT END=223162737;NT GT ./. 1 223162653 rs1339461 T C 175 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.08327,C/0.9167;Gene=DISP1/NM_032890.3/1;CC=c.540-1314T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:47:45:0:0:47:1530:175.36:156.77:18.58:1.00:1.00:1.00:60:37.1:0:0:46:102:33:NM_032890.3(DISP1) c.540-1314T>C,NM_032890.3(DISP1) c.540-1314T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 1 223162867 . G . . NT END=223163966;NT GT ./. 1 223162942 rs1416692 G C 207 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=28;Gene=DISP1/NM_032890.3/1;CC=c.540-1025G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C,G,T:61:20:0:0:59,1,1:1815,10,13:207.46,0.00,0.27:44.01,0.00,-0.01:163.46,0.00,0.28:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.0,40.0,58.0:0,0,0:0,0,0:101,100,0:49,49,150:22,0,0:NM_032890.3(DISP1) c.540-1025G>C,NM_032890.3(DISP1) c.540-1025G>C:1,1:NOT_FOUND,NOT_FOUND 1 223163148 rs5781293 GT G 16 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GT/0.4794,G/0.5206;DB;DBA=NA;PAF=GT/0.4794,G/0.5206;NP=2;Gene=DISP1/NM_032890.3/1;CC=c.540-805delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:GT,G:7:0:0:5:2,5:64,156:0.00,16.17:0.00,0.00:0.00,16.17:0.00,0.98:0.00,0.00:0.00,0.98:60,60:37.0,11.2:0,0:0,0:147,43:3,108:2,41:-,NM_032890.3(DISP1) c.540-818delT:-,NOT_FOUND:-,NOT_FOUND 1 223164091 . G . . NT END=223164861;NT GT ./. 1 223164990 . G . . NT END=223165354;NT GT ./. 1 223165453 . G . . NT END=223168226;NT GT ./. 1 223168213 rs2609359 T C 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6204,C/0.3796;PC=0.107;Gene=DISP1/NM_032890.3/1;CC=c.890-14T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:21:0:0:15,11:496,347:49.06,0.00:28.37,0.00:20.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.4,17.6:0,0:0,0:61,53:90,94:27,20:NM_032890.3(DISP1) c.890-14T>C,-:0.33,-:0.330949,- 1 223168325 . G . . NT END=223175726;NT GT ./. 1 223177574 rs2609355 A G 228 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=A/0.7586,G/0.2414;Gene=DISP1/NM_032890.3/1;CC=c.2835A>G;ProtCh=p.K945=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:138:100:0:0:67,71:2226,2353:0.00,227.63:0.00,144.44:0.00,83.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,45.4:0,0:0,0:59,70:92,80:34,36:-,NM_032890.3(DISP1) c.2835A>G (p.(=)):-,0.25:-,0.261802 1 223179315 . T . . NT END=223283796;NT GT ./. 1 223283694 rs533301769 G GA 10 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=2;PC=0.326;Gene=TLR5/NM_003268.5/1;CC=c.*102dupT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GA,D:32:31:4:1:27,4,1:915,128,33:0.00,9.53,1.90:0.00,9.65,1.93:0.00,-0.12,-0.03:0.00,0.63,0.00:0.00,0.95,0.00:0.00,0.38,0.00:60,60,60:9.3,6.0,147.0:0,0,0:0,0,0:35,18,49:116,132,102:30,7,0:-,NM_003268.5(TLR5) c.*102dupT:-,NOT_FOUND:-,NOT_FOUND 1 223283910 rs7512943 A G 362 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=3468;PC=0.142;Gene=TLR5/NM_003268.5/1;CC=c.2464T>C;ProtCh=p.F822L;VC=Missense;DM=TLR5/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:97:72:0:0:2,95:24,3205:0.00,362.15:0.00,220.92:0.00,141.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:180.0,37.4:0,0:0,0:75,70:57,80:71,31:NM_003268.5(TLR5) c.=,NM_003268.5(TLR5) c.=:1,1:NOT_FOUND,NOT_FOUND 1 223284528 rs5744174 A G 373 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.7097,G/0.2903;Gene=TLR5/NM_003268.5/1;CC=c.1846T>C;ProtCh=p.F616L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:55:0:0:98:3266:373.18:168.06:205.12:1.00:1.00:1.00:60:38.2:0:0:69:76:35:NM_003268.5(TLR5) c.1846T>C (p.Phe616Leu),NM_003268.5(TLR5) c.1846T>C (p.Phe616Leu):0.28,0.28:0.334615,0.334615 1 223285200 rs5744168 G A 180 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=106;DB;DBA=in-clinvar;PAF=G/0.9497,A/0.05032;PC=0.997;Gene=TLR5/NM_003268.5/1;CC=c.1174C>T;ProtCh=p.R392*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:106:57:0:0:54,1,51:1858,6,1515:180.03,-0.17,0.00:68.44,-0.10,0.00:111.59,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.1,222.0,5.0:0,0,0:0,0,0:82,135,65:58,15,85:34,0,39:NM_003268.5(TLR5) c.1174C>T (p.Arg392*),-:0.04,-:0.044287,- 1 223285833 rs45528236 G T 200 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.9497,T/0.05032;Gene=TLR5/NM_003268.5/1;CC=c.541C>A;ProtCh=p.Q181K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:129:79:0:0:61,68:2025,2066:0.00,200.10:0.00,98.42:0.00,101.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,43.2:0,0:0,0:86,82:61,67:34,24:-,NM_003268.5(TLR5) c.541C>A (p.Gln181Lys):-,0.04:-,0.044133 1 223286374 . G . . NT END=223395533;NT GT ./. 1 223286551 rs1773727 A C 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7107,C/0.2893;Gene=TLR5/NM_003268.5/1;CC=c.-4-174T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:214:24.69:0.00:24.69:1.00:0.00:1.00:60:83.0:0:0:115:36:23:NM_003268.5(TLR5) c.-4-174T>G,NM_003268.5(TLR5) c.-4-174T>G:0.28,0.28:NOT_FOUND,NOT_FOUND 1 223286561 rs1773729 T G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7107,G/0.2893;PC=0.043;Gene=TLR5/NM_003268.5/1;CC=c.-4-184A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:225:25.84:0.00:25.84:1.00:0.00:1.00:60:82.4:0:0:112:38:33:NM_003268.5(TLR5) c.-4-184A>C,NM_003268.5(TLR5) c.-4-184A>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 223395563 . C . . NT END=223396590;NT GT ./. 1 223396974 . C . . NT END=223400935;NT GT ./. 1 223401081 . C . . NT END=223402538;NT GT ./. 1 223402737 . C . . NT END=223408251;NT GT ./. 1 223408443 . C . . NT END=223436938;NT GT ./. 1 223436711 rs1640846 G C 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6953,C/0.3047;Gene=SUSD4/NM_017982.3/1;CC=c.724+1261C>G;VC=Intron;Gene=SUSD4/NM_001037175.2/0;CC=c.724+1261C>G;VC=Intron;DM=SUSD4/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:C,G:16:16:0:0:4,12:133,340:11.31,0.00:11.31,0.00:0.00,0.00:0.75,0.00:0.75,0.00:0.00,0.00:60,60:98.0,19.9:0,0:0,0:57,31:93,118:35,23:NM_017982.3(SUSD4) c.724+1261C>G,-:0.32,-:NOT_FOUND,- 1 223436722 rs1773713 T C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7414,C/0.2586;Gene=SUSD4/NM_017982.3/1;CC=c.724+1250A>G;VC=Intron;Gene=SUSD4/NM_001037175.2/0;CC=c.724+1250A>G;VC=Intron;DM=SUSD4/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:C,G,T:19:19:0:0:4,2,13:137,20,375:11.57,0.52,0.00:11.57,0.52,0.00:0.00,0.00,0.00:0.72,0.00,0.00:0.72,0.00,0.00:0.00,0.00,0.00:60,60,60:66.2,101.0,19.4:0,0,0:0,0,0:33,103,31:117,48,120:15,7,20:NM_017982.3(SUSD4) c.724+1250A>G,-:0.27,-:NOT_FOUND,- 1 223437451 rs9442040 T C 562 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=T/0.7109,C/0.2891;Gene=SUSD4/NM_017982.3/1;CC=c.724+521A>G;VC=Intron;Gene=SUSD4/NM_001037175.2/0;CC=c.724+521A>G;VC=Intron;DM=SUSD4/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:147:75:0:0:147:4916:561.59:237.27:324.32:1.00:1.00:1.00:60:41.3:0:0:89:62:35:NM_017982.3(SUSD4) c.724+521A>G,NM_017982.3(SUSD4) c.724+521A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 1 223437907 . C . . NT END=223437971;NT GT ./. 1 223438161 . C . . NT END=223441843;NT GT ./. 1 223441672 rs3820596 A G 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.6174,G/0.3826;Gene=SUSD4/NM_017982.3/1;CC=c.535+172T>C;VC=Intron;Gene=SUSD4/NM_001037175.2/0;CC=c.535+172T>C;VC=Intron;DM=SUSD4/Sushi;DM=SUSD4/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:20:0:0:20:667:76.19:76.19:0.00:1.00:1.00:0.00:60:42.8:0:0:61:85:31:NM_017982.3(SUSD4) c.535+172T>C,NM_017982.3(SUSD4) c.535+172T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 1 223442018 . C . . NT END=223462464;NT GT ./. 1 223462620 . C . . NT END=223465780;NT GT ./. 1 223465569 rs1713221 C T 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.1681,T/0.8319;Gene=SUSD4/NM_017982.3/1;CC=c.361+212G>A;VC=Intron;Gene=SUSD4/NM_001037175.2/0;CC=c.361+212G>A;VC=Intron;DM=SUSD4/Sushi;DM=SUSD4/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:419:48.55:48.55:0.00:1.00:1.00:0.00:60:38.3:0:0:29:121:23:NM_017982.3(SUSD4) c.361+212G>A,NM_017982.3(SUSD4) c.361+212G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 223465994 . C . . NT END=223536619;NT GT ./. 1 223536788 . C . . NT END=223566817;NT GT ./. 1 223567803 rs10907376 G A 249 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=199;DB;DBA=NA;PAF=G/0.8241,A/0.1759;Gene=CCDC185/NM_152610.2/1;CC=c.986G>A;ProtCh=p.G329D;VC=Missense;DM=CCDC185/DUF4659 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:199:123:0:0:88,111:2665,3646:249.01,0.00:134.63,0.00:114.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,8.8:0,0:0,0:87,70:60,75:32,39:NM_152610.2(C1orf65) c.986G>A (p.Gly329Asp),-:0.21,-:0.238302,- 1 223568690 . G . . NT END=223799945;NT GT ./. 1 223799857 rs34786756 C T 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.2312,T/0.7688;Gene=CAPN8/NM_001143962.1/1;CC=c.1313+3813G>A;VC=Intron;DM=CAPN8/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:29:0:0:18,12:582,398:0.00,36.76:0.00,31.98:0.00,4.78:0.00,1.00:0.00,1.00:0.00,0.94:60,60:1.2,68.6:0,0:0,0:40,31:110,117:23,24:-,NM_001143962.1(CAPN8) c.1323+91G>A:-,0.74:-,NOT_FOUND 1 223799871 rs35116708 C T 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.4549,T/0.5451;Gene=CAPN8/NM_001143962.1/1;CC=c.1313+3799G>A;VC=Intron;DM=CAPN8/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:30:0:0:21,15:627,503:0.00,46.91:0.00,37.68:0.00,9.22:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.7,64.0:0,0:0,0:52,35:99,116:30,24:-,NM_001143962.1(CAPN8) c.1323+77G>A:-,0.58:-,NOT_FOUND 1 223799960 . C . . NT END=223803671;NT GT ./. 1 223803848 . C . . NT END=223806994;NT GT ./. 1 223807156 . C . . NT END=223807893;NT GT ./. 1 223807969 . C . . NT END=223810516;NT GT ./. 1 223810318 rs61825177 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.604,A/0.396;Gene=CAPN8/NM_001143962.1/1;CC=c.899+199C>T;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:9:9:0:0:5,4:158,100:15.57,0.00:15.57,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:44.8,0.0:0,0:0,0:50,26:101,125:8,6:NM_001143962.1(CAPN8) c.899+199C>T,-:0.4,-:NOT_FOUND,- 1 223810603 . C . . NT END=223813506;NT GT ./. 1 223813586 rs35539373 G T 80 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.3958,T/0.6042;PC=1.000;Gene=CAPN8/NM_001143962.1/1;CC=c.734C>A;ProtCh=p.S245Y;VC=Missense;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:69:52:0:0:41,28:1347,873:0.00,80.42:0.00,43.87:0.00,36.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,34.0:0,0:0,0:75,107:73,41:29,23:-,NM_001143962.1(CAPN8) c.734C>A (p.Ser245Tyr):-,0.56:-,0.57972 1 223813591 . C . . NT END=223814690;NT GT ./. 1 223814543 rs35469136 T G 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3992,G/0.6008;Gene=CAPN8/NM_001143962.1/1;CC=c.729+148A>C;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:26:0:0:15,11:504,321:49.89,0.00:49.89,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:59.3,11.9:0,0:0,0:51,25:98,109:30,23:NM_001143962.1(CAPN8) c.729+148A>C,-:0.56,-:NOT_FOUND,- 1 223814671 rs61825208 A T 100 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.396,T/0.604;Gene=CAPN8/NM_001143962.1/1;CC=c.729+20T>A;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:66:63:0:0:34,32:1105,1044:0.00,99.82:0.00,81.13:0.00,18.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,37.0:0,0:0,0:55,56:96,94:25,21:-,NM_001143962.1(CAPN8) c.729+20T>A:-,0.56:-,0.57972 1 223814860 . C . . NT END=223815710;NT GT ./. 1 223815575 rs34187970 G A 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.2035,A/0.7965;Gene=CAPN8/NM_001143962.1/1;CC=c.560+136C>T;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:26:0:0:13,15:444,438:42.22,0.00:42.90,0.00:-0.68,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:37.2,4.7:0,0:0,0:31,21:120,130:22,17:NM_001143962.1(CAPN8) c.560+136C>T,-:0.77,-:NOT_FOUND,- 1 223815845 . C . . NT END=223816363;NT GT ./. 1 223815851 rs138483593 AG A 173 rn VT=DEL;SST=Single;DP=117;DB;DBA=NA;PAF=AG/0.9297,A/0.07029;NP=148;Gene=CAPN8/NM_001143962.1/1;CC=c.427-8delC;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,G,A:117:68:0:57:59,1,57:1903,9,1806:0.00,-0.16,172.92:0.00,-0.02,61.98:0.00,-0.14,110.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.5,73.0,5.5:1,0,0:0,0,0:83,73,70:59,71,69:39,0,39:-,NM_001143962.1(CAPN8) c.427-8delC:-,0.08:-,0.076339 1 223816322 rs66602040 A G 39 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.2039,G/0.7961;Gene=CAPN8/NM_001143962.1/1;CC=c.426+42T>C;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:31:0:0:21,13:680,426:0.00,38.98:0.00,38.09:0.00,0.89:0.00,1.00:0.00,1.00:0.00,0.95:60,60:21.3,70.5:0,0:0,0:34,43:116,106:26,19:-,NM_001143962.1(CAPN8) c.426+42T>C:-,0.77:-,0.805519 1 223816347 rs61825210 A G 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.2013,G/0.7987;Gene=CAPN8/NM_001143962.1/1;CC=c.426+17T>C;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:40:0:0:26,18:837,509:0.00,46.57:0.00,39.68:0.00,6.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.8,56.6:0,0:0,0:34,33:105,116:18,29:-,NM_001143962.1(CAPN8) c.426+17T>C:-,0.77:-,0.810118 1 223816483 . C . . NT END=223842031;NT GT ./. 1 223816577 rs61825211 T C 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.2033,C/0.7967;Gene=CAPN8/NM_001143962.1/1;CC=c.308-95A>G;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:2:0:0:18,17:522,534:50.23,0.00:1.54,0.00:48.69,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:35.2,8.9:0,0:0,0:81,92:69,58:33,38:NM_001143962.1(CAPN8) c.308-95A>G,-:0.77,-:NOT_FOUND,- 1 223841913 rs11585533 C A 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6871,A/0.3129;Gene=CAPN8/NM_001143962.1/1;CC=c.307+119G>T;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:A,G:18:18:0:0:17,1:558,13:63.49,0.62:63.49,0.62:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:52.8,13.0:0,0:0,0:31,79:120,72:27,0:NM_001143962.1(CAPN8) c.307+119G>T,NM_001143962.1(CAPN8) c.307+119G>T:0.34,0.34:NOT_FOUND,NOT_FOUND 1 223841988 rs182564835 C T 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=14;Gene=CAPN8/NM_001143962.1/1;CC=c.307+44G>A;VC=Intron;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2;DM=CAPN8/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:31:0:0:16,20:541,594:0.00,58.11:0.00,46.39:0.00,11.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,54.0:0,0:0,0:45,60:93,90:31,23:-,NM_001143962.1(CAPN8) c.307+44G>A:-,0.0018:-,0.003504 1 223842102 . C . . NT END=223853111;NT GT ./. 1 223853349 . G . . NT END=223900118;NT GT ./. 1 223853440 rs10916015 A G 185 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.06729,G/0.9327;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:G:53:5:0:0:53:1599:185.01:10.63:174.38:1.00:1.00:1.00:60:63.5:0:0:122:29:19:NM_001143962.1(CAPN8) c.-88-u4T>C,NM_001143962.1(CAPN8) c.-88-u4T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 223853473 rs41307690 C T 98 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8962,T/0.1038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:0:0:0:28:844:97.67:0.00:97.67:1.00:0.00:1.00:60:82.7:0:0:93:57:33:NM_001143962.1(CAPN8) c.-88-u37G>A,NM_001143962.1(CAPN8) c.-88-u37G>A:0.09,0.09:NOT_FOUND,NOT_FOUND 1 223863445 . CAG C 7 rn VT=DEL;SST=Single;DP=4;NP=1;PC=0.009;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:CAG,C:4:3:0:2:2,2:66,69:0.00,6.65:0.00,7.10:0.00,-0.45:0.00,0.51:0.00,0.89:0.00,0.79:60,60:35.0,0.0:0,0:0,0:85,59:13,61:10,6:-,chr1 g.223863446_223863447delAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 223900408 rs25655 C G 599 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.01258,G/0.9874;Gene=CAPN2/NM_001146068.1/0;CC=c.4-5056C>G;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.66C>G;ProtCh=p.D22E;VC=Missense;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:159:91:0:0:158,1:5244,8:599.19,0.04:248.76,0.04:350.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,49.0:0,0:0,0:92,79:53,72:32,0:NM_001748.4(CAPN2) c.=,NM_001748.4(CAPN2) c.=:0.99,0.99:0.98444,0.98444 1 223900580 . G . . NT END=223905463;NT GT ./. 1 223905534 . G . . NT END=223931801;NT GT ./. 1 223931648 rs1222137 T C 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.003195,C/0.9968;NP=3280;Gene=CAPN2/NM_001146068.1/0;CC=c.74-154T>C;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.308-154T>C;VC=Intron;DM=CAPN2/Peptidase_C2;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:15:0:0:15:442:51.31:51.31:0.00:1.00:1.00:0.00:60:39.8:0:0:52:98:33:NM_001748.4(CAPN2) c.308-154T>C,NM_001748.4(CAPN2) c.308-154T>C:1,1:NOT_FOUND,NOT_FOUND 1 223931921 . G . . NT END=223933007;NT GT ./. 1 223932702 rs6665485 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8017,A/0.1983;PC=0.001;Gene=CAPN2/NM_001146068.1/0;CC=c.193-306G>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.427-306G>A;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G:6:6:0:0:3,3:104,67:10.09,0.00:10.09,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:72.3,1.7:0,0:0,0:49,92:101,53:29,26:NM_001748.4(CAPN2) c.427-306G>A,-:0.2,-:NOT_FOUND,- 1 223932743 rs372937072 CAAA C 19 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CAAA/0.7282,C/0.2718;DB;DBA=NA;PAF=CAAA/0.7282,C/0.2718;NP=34;PC=0.181;Gene=CAPN2/NM_001146068.1/0;CC=c.193-252_193-250delAAA;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.427-252_427-250delAAA;VC=Intron;DM=CAPN2/Peptidase_C2;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:CAAA,C:10:10:0:6:4,6:108,194:0.00,19.36:0.00,19.36:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:22.5,40.8:0,0:0,0:56,40:95,111:26,30:-,NM_001748.4(CAPN2) c.427-264_427-262delAAA:-,NOT_FOUND:-,NOT_FOUND 1 223932894 rs12069561 C G 93 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.7244,G/0.2756,T/.;PC=0.497;Gene=CAPN2/NM_001146068.1/0;CC=c.193-114C>G;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.427-114C>G;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:55:52:0:0:22,33:701,933:0.00,92.80:0.00,87.06:0.00,5.73:0.00,1.00:0.00,1.00:0.00,0.78:60,60:6.7,43.1:0,0:0,0:41,47:110,100:29,34:-,NM_001748.4(CAPN2) c.427-114C>G:-,0.26:-,NOT_FOUND 1 223933061 rs17597 C T 281 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=166;DB;DBA=NA;PAF=C/0.9597,T/0.04034;PC=0.972;Gene=CAPN2/NM_001146068.1/0;CC=c.246C>T;ProtCh=p.T82=;VC=Silent;Gene=CAPN2/NM_001748.4/1;CC=c.480C>T;ProtCh=p.T160=;VC=Silent;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:166:120:0:0:76,1,89:2518,5,2879:0.00,-0.18,280.80:0.00,-0.09,137.42:0.00,-0.09,143.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.9,173.0,66.2:0,0,0:0,0,0:57,37,63:86,114,80:27,0,31:-,NM_001748.4(CAPN2) c.480C>T (p.(=)):-,0.05:-,0.067046 1 223933079 rs17598 C T 260 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=165;DB;DBA=NA;PAF=C/0.7248,T/0.2752;PC=0.671;Gene=CAPN2/NM_001146068.1/0;CC=c.264C>T;ProtCh=p.L88=;VC=Silent;Gene=CAPN2/NM_001748.4/1;CC=c.498C>T;ProtCh=p.L166=;VC=Silent;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:165:115:0:0:80,85:2732,2694:0.00,260.21:0.00,109.27:0.00,150.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,67.4:0,0:0,0:65,73:77,75:30,27:-,NM_001748.4(CAPN2) c.498C>T (p.(=)):-,0.26:-,0.241658 1 223933142 . G . . NT END=223934698;NT GT ./. 1 223933313 rs1222134 A T 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3155,T/0.6845;PC=0.006;Gene=CAPN2/NM_001146068.1/0;CC=c.326+172A>T;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.560+172A>T;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,T:16:0:0:0:5,11:141,325:0.00,33.42:0.00,0.00:0.00,33.42:0.00,1.00:0.00,0.00:0.00,1.00:60,60:55.2,48.6:0,0:0,0:89,88:62,63:25,32:-,NM_001748.4(CAPN2) c.560+172A>T:-,0.7:-,NOT_FOUND 1 223933318 rs3738375 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.725,C/0.275;Gene=CAPN2/NM_001146068.1/0;CC=c.326+177T>C;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.560+177T>C;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:C,T:16:0:0:0:5,11:175,291:15.59,0.00:0.00,0.00:15.59,0.00:0.88,0.00:0.00,0.00:0.88,0.00:60,60:55.2,48.6:0,0:0,0:94,93:57,58:25,32:NM_001748.4(CAPN2) c.560+177T>C,-:0.26,-:NOT_FOUND,- 1 223934720 rs17600 G A 151 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.3161,A/0.6839,T/.;Gene=CAPN2/NM_001146068.1/0;CC=c.348G>A;ProtCh=p.A116=;VC=Silent;Gene=CAPN2/NM_001748.4/1;CC=c.582G>A;ProtCh=p.A194=;VC=Silent;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:97:81:0:0:48,1,48:1568,12,1495:150.80,-0.05,0.00:93.16,0.01,0.00:57.64,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,110.0,5.1:0,0,0:0,0,0:58,8,53:88,142,90:28,0,35:NM_001748.4(CAPN2) c.582G>A (p.(=)),-:0.69,-:0.735737,- 1 223934868 . G . . NT END=223936740;NT GT ./. 1 223935090 rs1222132 G C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=812;Gene=CAPN2/NM_001146068.1/0;CC=c.495+223G>C;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.729+223G>C;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:149:17.26:0.00:17.26:1.00:0.00:1.00:60:29.8:0:0:22:129:16:NM_001748.4(CAPN2) c.729+223G>C,NM_001748.4(CAPN2) c.729+223G>C:1,1:NOT_FOUND,NOT_FOUND 1 223936825 . G . . NT END=223938591;NT GT ./. 1 223936864 rs10915715 G A 53 nt VT=SNV;PN=T;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.8071,A/0.1929;Gene=CAPN2/NM_001146068.1/0;CC=c.579+40G>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.813+40G>A;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:23:0:0:20,29:580,982:53.11,0.00:12.16,0.00:40.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.9,9.0:0,0:0,0:104,102:45,44:16,18:NM_001748.4(CAPN2) c.813+40G>A,-:0.19,-:0.156413,- 1 223938565 rs1153968 A C 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.4798,C/0.5202;Gene=CAPN2/NM_001146068.1/0;CC=c.580-27A>C;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.814-27A>C;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:35:29:0:0:20,15:623,501:0.00,46.88:0.00,26.33:0.00,20.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,46.8:0,0:0,0:59,50:88,100:27,39:-,NM_001748.4(CAPN2) c.814-27A>C:-,0.5:-,0.466054 1 223938678 . G . . NT END=223939698;NT GT ./. 1 223938939 rs28370073 C T 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9261,T/0.07388;Gene=CAPN2/NM_001146068.1/0;CC=c.665+262C>T;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.899+262C>T;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:0:0:0:1,3:33,90:0.00,9.45:0.00,0.00:0.00,9.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:10.0,63.0:0,0:0,0:112,112:39,39:0,17:-,NM_001748.4(CAPN2) c.899+262C>T:-,0.08:-,NOT_FOUND 1 223938947 rs28370074 T C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9219,C/0.07808;Gene=CAPN2/NM_001146068.1/0;CC=c.665+270T>C;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.899+270T>C;VC=Intron;DM=CAPN2/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:0:0:0:3,1:99,33:10.35,0.00:0.00,0.00:10.35,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:63.0,10.0:0,0:0,0:120,120:31,31:17,0:NM_001748.4(CAPN2) c.899+270T>C,-:0.08,-:NOT_FOUND,- 1 223939774 . G . . NT END=223940497;NT GT ./. 1 223940659 . G . . NT END=223943181;NT GT ./. 1 223943352 . G . . NT END=223945070;NT GT ./. 1 223945083 . G . . NT END=223946971;NT GT ./. 1 223947184 . G . . NT END=223949282;NT GT ./. 1 223949320 . G . . NT END=223949887;NT GT ./. 1 223949716 rs201217922 C CT 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.643,CT/0.357;DB;DBA=NA;PAF=NA;NP=1;NP=477;Gene=CAPN2/NM_001146068.1/0;CC=c.1333-170dupT;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.1567-170dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,CT:4:4:3:0:1,3:33,97:0.00,10.15:0.00,10.15:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,38.0:0,0:0,0:31,31:120,120:0,6:-,NM_001748.4(CAPN2) c.1567-172_1567-171insT:-,0.34:-,NOT_FOUND 1 223949762 rs10159015 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8768,A/0.1232;Gene=CAPN2/NM_001146068.1/0;CC=c.1333-126G>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.1567-126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:12:12:0:0:6,6:185,155:17.75,0.00:17.75,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:41.2,0.0:0,0:0,0:58,23:92,127:26,13:NM_001748.4(CAPN2) c.1567-126G>A,-:0.13,-:NOT_FOUND,- 1 223949954 . G . . NT END=223951851;NT GT ./. 1 223951841 rs751128 T C 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.5705,C/0.4295;Gene=CAPN2/NM_001146068.1/0;CC=c.1399-11T>C;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.1633-11T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:37:0:0:15,28:478,893:42.89,0.00:24.91,0.00:17.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,16.8:0,0:0,0:49,47:84,98:37,20:NM_001748.4(CAPN2) c.1633-11T>C,-:0.43,-:0.442257,- 1 223951910 . G . . NT END=223954068;NT GT ./. 1 223954134 . G . . NT END=223957542;NT GT ./. 1 223957335 rs1153954 T A 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.643,A/0.357;Gene=CAPN2/NM_001146068.1/0;CC=c.1522-208T>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.1756-208T>A;VC=Intron;DM=CAPN2/EF-hand_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,T:11:11:0:0:4,7:135,219:12.28,0.00:12.28,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:61.2,7.9:0,0:0,0:74,46:75,105:8,22:NM_001748.4(CAPN2) c.1756-208T>A,-:0.34,-:NOT_FOUND,- 1 223957612 . G . . NT END=223958148;NT GT ./. 1 223958228 . G . . NT END=223959510;NT GT ./. 1 223958272 rs16842162 G A 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9062,A/0.09385;Gene=CAPN2/NM_001146068.1/0;CC=c.1669+45G>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.1903+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:8:0:0:13,11:399,369:38.86,0.00:5.31,0.00:33.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,0.8:0,0:0,0:117,114:33,36:27,31:NM_001748.4(CAPN2) c.1903+45G>A,-:0.1,-:0.117561,- 1 223959452 rs12080250 G A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.9062,A/0.09385;Gene=CAPN2/NM_001146068.1/0;CC=c.1670-59G>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.1904-59G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:27:0:0:10,19:331,530:29.83,0.00:24.10,0.00:5.73,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:44.7,18.9:0,0:0,0:37,41:111,108:9,13:NM_001748.4(CAPN2) c.1904-59G>A,-:0.1,-:NOT_FOUND,- 1 223959628 . G . . NT END=223959882;NT GT ./. 1 223959796 rs1153950 G A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.6498,A/0.3502;Gene=CAPN2/NM_001146068.1/0;CC=c.1787-87G>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.2021-87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:20:0:0:11,18:366,544:33.49,0.00:21.22,0.00:12.27,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:35.4,11.0:0,0:0,0:32,73:116,77:17,33:NM_001748.4(CAPN2) c.2021-87G>A,-:0.33,-:NOT_FOUND,- 1 223959942 . G . . NT END=223962535;NT GT ./. 1 223959994 rs28370170 G A 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.9287,A/0.07129;Gene=CAPN2/NM_001146068.1/0;CC=c.1845+53G>A;VC=Intron;Gene=CAPN2/NM_001748.4/1;CC=c.2079+53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:7:0:0:15,18:495,578:46.77,0.00:4.93,0.00:41.84,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:47.3,9.9:0,0:0,0:109,109:42,37:25,20:NM_001748.4(CAPN2) c.2079+53G>A,-:0.07,-:0.098993,- 1 223962560 . A . . NT END=223968553;NT GT ./. 1 223968597 . C . . NT END=223971815;NT GT ./. 1 223972017 . C . . NT END=223976708;NT GT ./. 1 223976877 . C . . NT END=223980089;NT GT ./. 1 223980225 . C . . NT END=223981003;NT GT ./. 1 223981143 . C . . NT END=223983515;NT GT ./. 1 223984293 . C . . NT END=223985915;NT GT ./. 1 223985960 rs140226297 G A 117 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=25;PC=0.001;Gene=TP53BP2/NM_001031685.2/0;CC=c.1905C>T;ProtCh=p.S635=;VC=Silent;Gene=TP53BP2/NM_005426.2/1;CC=c.1518C>T;ProtCh=p.S506=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:94:77:0:0:38,55,1:1259,1746,14:116.73,0.00,-0.01:72.15,0.00,0.07:44.58,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,6.5,59.0:0,0,0:0,0,0:73,63,70:75,84,81:29,29,0:NM_005426.2(TP53BP2) c.1518C>T (p.(=)),-:0.0014,-:0.004152,- 1 223986380 . C . . NT END=223987599;NT GT ./. 1 223987750 . C . . NT END=223988400;NT GT ./. 1 223988513 . C . . NT END=223989816;NT GT ./. 1 223988701 rs1222158 G A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6228,A/0.3772;Gene=TP53BP2/NM_001031685.2/0;CC=c.1226-189C>T;VC=Intron;Gene=TP53BP2/NM_005426.2/1;CC=c.839-189C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:A,G,T:7:0:0:0:4,2,1:108,45,11:10.98,0.00,0.63:0.00,0.00,0.00:10.98,0.00,0.63:0.90,0.00,0.00:0.00,0.00,0.00:0.90,0.00,0.00:60,60,60:49.8,5.5,76.0:0,0,0:0,0,0:61,62,112:88,88,38:14,28,0:NM_005426.2(TP53BP2) c.839-189C>T,-:0.36,-:NOT_FOUND,- 1 223989712 rs12059770 G T 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8998,T/0.1002;Gene=TP53BP2/NM_001031685.2/0;CC=c.1225+106C>A;VC=Intron;Gene=TP53BP2/NM_005426.2/1;CC=c.838+106C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:40:0:0:16,24:514,781:0.00,77.86:0.00,77.86:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.6,48.0:0,0:0,0:32,73:107,76:31,35:-,NM_005426.2(TP53BP2) c.838+106C>A:-,0.1:-,NOT_FOUND 1 223990047 . C . . NT END=223990431;NT GT ./. 1 223990598 . C . . NT END=223990971;NT GT ./. 1 223991119 rs34683843 G T 162 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.9647,T/0.03534;PC=1.000;Gene=TP53BP2/NM_001031685.2/0;CC=c.685C>A;ProtCh=p.Q229K;VC=Missense;Gene=TP53BP2/NM_005426.2/1;CC=c.298C>A;ProtCh=p.Q100K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:104:44:0:0:1,48,55:9,1579,1669:-0.13,0.00,162.14:-0.07,0.00,43.15:-0.06,0.00,118.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:91.0,8.4,43.1:0,0,0:0,0,0:77,86,86:73,64,64:0,37,32:-,NM_005426.2(TP53BP2) c.298C>A (p.Gln100Lys):-,0.05:-,0.063509 1 223991155 . C . . NT END=223991874;NT GT ./. 1 223991683 rs61824008 T C 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.9133,C/0.08666;Gene=TP53BP2/NM_001031685.2/0;CC=c.649+193A>G;VC=Intron;Gene=TP53BP2/NM_005426.2/1;CC=c.262+193A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:19:0:0:11,8:332,257:32.81,0.00:32.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.1,2.9:0,0:0,0:28,38:122,112:22,20:NM_005426.2(TP53BP2) c.262+193A>G,-:0.09,-:NOT_FOUND,- 1 223992051 . C . . NT END=223994546;NT GT ./. 1 223994650 . C . . NT END=223998131;NT GT ./. 1 223998216 . C . . NT END=224001940;NT GT ./. 1 224002056 . C . . NT END=224008920;NT GT ./. 1 224009070 . C . . NT END=224022532;NT GT ./. 1 224022552 . G . . NT END=224032937;NT GT ./. 1 224022834 rs6604728 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9161,G/0.08387;Gene=TP53BP2/NM_001031685.2/0;CC=c.27+10522T>C;VC=Intron;Gene=TP53BP2/NM_005426.2/1;CC=c.-493+10522T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:6:0:0:0:3,3:73,104:0.00,10.05:0.00,0.00:0.00,10.05:0.00,0.73:0.00,0.00:0.00,0.73:60,60:2.7,46.7:0,0:0,0:109,109:37,39:0,19:-,NM_005426.2(TP53BP2) c.-493+10522T>C:-,0.08:-,NOT_FOUND 1 224032955 . G . . NT END=224033355;NT GT ./. 1 224033383 . G . . NT END=224116448;NT GT ./. 1 224044968 rs111479429 C G 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.9247,G/0.07528;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:38:29:0:0:23,15:731,502:0.00,46.29:0.00,28.48:0.00,17.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,39.3:0,0:0,0:82,51:68,100:26,46:-,chr1 g.224044967C>G (intergenic):-,0.08:-,NOT_FOUND 1 224116517 . C . . NT END=224133239;NT GT ./. 1 224133240 rs147548627 G A 29 lc VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9016,A/0.09844;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:24:0:0:10,18:321,575:28.94,0.00:24.70,0.00:4.24,0.00:1.00,0.00:1.00,0.00:0.97,0.00:49,49:36.6,6.9:0,0:0,0:55,59:96,85:22,14:chr1 g.224133239G>A (intergenic),-:0.11,-:NOT_FOUND,- 1 224133409 . C . . NT END=224218405;NT GT ./. 1 224139053 rs200084393 T TA 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.747,TA/0.253;NP=17;PC=0.201;Gene=GTF2IP20/NR_132119.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:T,TA:5:5:3:0:2,3:63,97:0.00,9.67:0.00,9.67:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:55,60:0.0,4.0:0,0:0,0:7,24:143,127:6,13:-,chr1 g.224139053_224139054insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 224139191 rs11551596 G A 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=57;PC=0.944;Gene=GTF2IP20/NR_132119.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:12,10:384,266:37.59,0.00:37.76,0.00:-0.17,0.00:1.00,0.00:1.00,0.00:0.70,0.00:52,60:47.9,34.5:0,0:0,0:59,77:91,73:31,55:chr1 g.224139190G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 224139286 rs9219 C T 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.7506,T/0.2494;PC=0.005;Gene=GTF2IP20/NR_132119.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:66:59:0:0:29,1,36:887,5,1190:0.00,-0.16,116.76:0.00,-0.11,89.29:0.00,-0.05,27.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,60:4.0,43.0,47.3:0,0,0:0,0,0:43,103,26:108,48,123:20,0,18:-,chr1 g.224139285C>T (intergenic):-,0.27:-,NOT_FOUND 1 224139650 rs61825422 T C 103 nt VT=SNV;PN=A;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.719,C/0.281;PC=0.022;Gene=GTF2IP20/NR_132119.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:92:72:0:0:37,1,54:1124,12,1579:103.35,-0.09,0.00:75.83,-0.00,0.00:27.52,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:61.4,112.0,14.5:0,0,0:0,0,0:92,132,41:56,17,107:19,0,26:chr1 g.224139649T>C (intergenic),-:0.29,-:NOT_FOUND,- 1 224139708 rs61825423 T C 104 nt VT=SNV;PN=G;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.7196,C/0.2804;PC=0.373;Gene=GTF2IP20/NR_132119.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:113:82:0:0:1,36,3,73:12,1164,28,2153:-0.14,103.56,-0.26,0.00:-0.04,57.51,0.05,0.00:-0.10,46.05,-0.31,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,60,41,60:111.0,61.9,14.0,15.7:0,0,0,0:0,0,0,0:82,73,42,59:69,76,107,85:0,38,16,29:chr1 g.224139707T>C (intergenic),-:0.26,-:NOT_FOUND,- 1 224165128 rs77233015 CCT C 13 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CCT/0.2853,C/0.7147;NP=3;PC=0.096;Gene=GTF2IP20/NR_132119.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:CCT,C:6:5:0:4:2,4:67,131:0.00,13.35:0.00,4.64:0.00,8.71:0.00,0.93:0.00,0.99:0.00,0.99:53,54:10.0,5.8:0,0:0,0:88,98:62,52:29,9:-,chr1 g.224165129_224165130delCT (intergenic):-,0.68:-,NOT_FOUND 1 224191284 rs3933009 A G 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1087;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:4:0:0:11:357:40.94:12.32:28.63:1.00:1.00:1.00:42:45.2:0:0:71:80:43:XR_159115.1(LOC100287497) n.-4960A>G,XR_159115.1(LOC100287497) n.-4960A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 224201412 rs55957775 A G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=65;PC=0.181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:4:0:0:1,3:33,104:0.00,10.85:0.00,7.00:0.00,3.85:0.00,0.85:0.00,0.85:0.00,0.95:7,30:166.0,239.7:0,0:0,0:12,52:91,66:0,0:-,chr1 g.224201411A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 224201424 rs55806387 C A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4706,A/0.5294;NP=19;PC=0.151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:4:4:0:0:3,1:97,35:10.15,0.00:6.60,0.00:3.55,0.00:0.85,0.00:0.85,0.00:0.95,0.00:43,21:208.0,234.0:0,0:0,0:29,97:74,19:23,0:chr1 g.224201423C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 224201442 . G A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;NP=26;PC=0.170 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:4:0:0:3,1:101,34:10.55,0.00:4.98,0.00:5.58,0.00:0.85,0.00:0.85,0.00:0.99,0.00:43,21:210.3,234.0:0,0:0,0:47,115:56,1:23,0:chr1 g.224201441G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 224218429 rs199851169 G A 91 lc VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:37:0:0:29,25:938,710:91.47,0.00:46.58,0.00:44.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,42:37.7,4.6:0,0:0,0:49,55:102,92:23,21:XR_159116.1(LOC100996486) n.-812G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 224218499 . C . . NT END=224222655;NT GT ./. 1 224222584 rs77941360 TA T 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TA/0.3438,T/0.6562;DB;DBA=NA;PAF=TA/0.3438,T/0.6562;NP=532;PC=0.511;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,TA,T:6:6:0:3:1,2,3:12,63,97:0.76,0.00,9.63:0.76,0.00,9.63:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:46.0,0.0,7.7:0,0,0:0,0,0:122,89,121:28,60,30:0,58,7:-,chr1 g.224222585delA (intergenic):-,0.62:-,NOT_FOUND 1 224222631 rs61426806 G GTAAAA 15 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.01258,GTAAAA/0.9874;DB;DBA=NA;PAF=G/0.01258,GTAAAA/0.9874;PC=0.012;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GTAAAA:5:3:5:0:5:129:15.27:8.62:6.65:1.00:1.00:1.00:40:2.6:0:0:12:138:6:chr1 g.224222631_224222632insTAAAA (intergenic),chr1 g.224222631_224222632insTAAAA (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 1 224222759 . C . . NT END=224223133;NT GT ./. 1 224223139 . G . . NT END=224301831;NT GT ./. 1 224232808 rs72751627 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6807,G/0.3193;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:129:14.81:10.83:3.98:1.00:1.00:1.00:60:71.5:0:0:38:107:28:chr1 g.224232807A>G (intergenic),chr1 g.224232807A>G (intergenic):0.34,0.34:NOT_FOUND,NOT_FOUND 1 224301749 rs6690695 C T 576 nt VT=SNV;PN=C;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=C/0.5497,T/0.4503;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:155:134:0:0:1,154:33,5058:0.00,576.42:0.00,394.09:0.00,182.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,44.6:0,0:0,0:106,44:43,97:0,23:NM_015176.3(FBXO28) c.-43-u40C>T,NM_015176.3(FBXO28) c.-43-u40C>T:0.45,0.45:NOT_FOUND,NOT_FOUND 1 224302099 . G . . NT END=224318173;NT GT ./. 1 224302154 rs554014228 T TGAG 148 nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.01518,TGAG/0.9848;DB;DBA=NA;PAF=T/0.01518,TGAG/0.9848,TGGAG/.;NP=1348;Gene=FBXO28/NM_001136115.2/0;CC=c.267+57_267+59dupGAG;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.267+57_267+59dupGAG;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TGAG:59:8:45:0:1,13,45:11,376,1401:0.10,0.00,148.16:-0.01,0.00,13.78:0.11,0.00,134.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:193.0,31.3,21.0:1,2,0:0,0,0:87,144,98:63,4,53:0,3,24:-,NM_015176.3(FBXO28) c.267+56_267+57insGAG:-,NOT_FOUND:-,NOT_FOUND 1 224302230 rs2280291 C G 79 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5441,G/0.4559;Gene=FBXO28/NM_001136115.2/0;CC=c.267+132C>G;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.267+132C>G;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:0:0:0:21:689:78.88:0.00:78.88:1.00:0.00:1.00:60:56.0:0:0:108:43:24:NM_015176.3(FBXO28) c.267+132C>G,NM_015176.3(FBXO28) c.267+132C>G:0.46,0.46:NOT_FOUND,NOT_FOUND 1 224314814 rs4653564 C T 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5479,T/0.4521;Gene=FBXO28/NM_001136115.2/0;CC=c.268-3360C>T;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.268-3360C>T;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:169:19.28:9.64:9.64:1.00:1.00:1.00:70:61.4:0:0:69:82:35:NM_015176.3(FBXO28) c.268-3360C>T,NM_015176.3(FBXO28) c.268-3360C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 1 224314882 rs59185487 GTGTA G 17 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=71;Gene=FBXO28/NM_001136115.2/0;CC=c.268-3288_268-3285delATGT;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.268-3288_268-3285delATGT;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GTGTA,G:7:5:0:7:2,5:70,161:0.00,16.67:0.00,11.99:0.00,4.68:0.00,0.98:0.00,1.00:0.00,0.99:60,70:82.0,49.6:2,0:0,0:74,85:75,50:32,52:-,NM_015176.3(FBXO28) c.268-3291_268-3288delTGTA:-,NOT_FOUND:-,NOT_FOUND 1 224315001 rs2131307 T A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01498,A/0.985;PC=0.001;Gene=FBXO28/NM_001136115.2/0;CC=c.268-3173T>A;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.268-3173T>A;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:1:0:0:5:118:14.12:2.37:11.75:1.00:1.00:1.00:70:69.0:0:0:97:53:27:NM_015176.3(FBXO28) c.268-3173T>A,NM_015176.3(FBXO28) c.268-3173T>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 224315014 rs55767444 C T 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6805,T/0.3195;Gene=FBXO28/NM_001136115.2/0;CC=c.268-3160C>T;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.268-3160C>T;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:173:19.68:0.00:19.68:1.00:0.00:1.00:70:74.2:0:0:106:44:20:NM_015176.3(FBXO28) c.268-3160C>T,NM_015176.3(FBXO28) c.268-3160C>T:0.32,0.32:NOT_FOUND,NOT_FOUND 1 224318001 rs1810344 A G 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.08466,G/0.9153;PC=0.001;Gene=FBXO28/NM_001136115.2/0;CC=c.268-173A>G;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.268-173A>G;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:251:28.91:28.91:0.00:1.00:1.00:0.00:60:37.0:0:0:60:90:25:NM_015176.3(FBXO28) c.268-173A>G,NM_015176.3(FBXO28) c.268-173A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 224318151 rs79903085 T TTTG 141 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.01498,TTTG/0.985;DB;DBA=NA;PAF=T/0.01498,TTTG/0.985;DB;DBA=NA;PAF=NA;NP=2716;PC=0.412;Gene=FBXO28/NM_001136115.2/0;CC=c.268-20_268-18dupGTT;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.268-20_268-18dupGTT;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;DM=FBXO28/F-box;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T,TTTG:42:39:40:0:2,40:35,1257:0.00,141.44:0.00,106.78:0.00,34.67:0.00,1.00:0.00,1.00:0.00,1.00:60,70:15.5,4.5:0,0:0,0:77,51:71,96:71,31:NM_015176.3(FBXO28) c.268-23_268-22insTTG,NM_015176.3(FBXO28) c.268-23_268-22insTTG:NOT_FOUND,NOT_FOUND:0.986182,0.986182 1 224318284 . G . . NT END=224321775;NT GT ./. 1 224321530 rs5781349 AAT A 21 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AAT/0.01577,A/0.9842;DB;DBA=NA;PAF=AAT/0.01577,A/0.9842;DB;DBA=NA;PAF=AAT/0.01577,A/0.9842;NP=532;Gene=FBXO28/NM_001136115.2/0;CC=c.378-228_378-227delTA;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.378-228_378-227delTA;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:AAT,A:7:8:0:7:1,6:33,220:0.00,20.71:0.00,20.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,8.5:0,1:0,0:37,48:113,103:0,20:-,NM_015176.3(FBXO28) c.378-245_378-244delAT:-,NOT_FOUND:-,NOT_FOUND 1 224321915 . G . . NT END=224340843;NT GT ./. 1 224321984 rs1472167 C T 109 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.005391,T/0.9946;NP=3460;Gene=FBXO28/NM_001136115.2/0;CC=c.516+70C>T;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.516+70C>T;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:9:0:0:30:950:109.26:20.17:89.09:1.00:1.00:1.00:60:34.8:0:0:102:48:28:NM_015176.3(FBXO28) c.516+70C>T,NM_015176.3(FBXO28) c.516+70C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 224340627 rs71168320 CAAAAAA C 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FBXO28/NM_001136115.2/0;CC=c.517-4404_517-4399delAAAAAA;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.517-194_517-189delAAAAAA;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CAAAAAA,C:4:5:0:4:1,3:35,130:0.00,10.07:0.00,10.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:77.0,18.7:0,1:0,0:70,50:81,99:0,25:-,NM_015176.3(FBXO28) c.517-216_517-211delAAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 224341040 . G . . NT END=224345053;NT GT ./. 1 224344996 rs41303994 G A 132 nt VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.9942,A/0.005791;NP=93;Gene=FBXO28/NM_001136115.2/0;CC=c.517-58G>A;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.713-58G>A;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:68:0:0:42,29:1329,984:132.04,0.00:113.09,0.00:18.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.0,35.8:0,0:0,0:51,61:98,90:38,44:NM_015176.3(FBXO28) c.713-58G>A,-:0.01,-:NOT_FOUND,- 1 224345012 rs7543762 G A 310 nt VT=SNV;PN=A;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.005391,A/0.9946;NP=3463;Gene=FBXO28/NM_001136115.2/0;CC=c.517-42G>A;VC=Intron;Gene=FBXO28/NM_015176.3/1;CC=c.713-42G>A;VC=Intron;Gene=FBXO28/NR_049764.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:86:83:0:0:86:2687:309.59:264.57:45.02:1.00:1.00:1.00:60:56.0:0:0:48:99:37:NM_015176.3(FBXO28) c.713-42G>A,NM_015176.3(FBXO28) c.713-42G>A:0.99,0.99:0.994615,0.994615 1 224345942 . T . . NT END=224371038;NT GT ./. 1 224371121 . G . . NT END=224377278;NT GT ./. 1 224378022 . G . . NT END=224380033;NT GT ./. 1 224379893 . CT C 11 rn VT=DEL;SST=Single;DP=19;NP=4;PC=0.002;Gene=DEGS1/NM_003676.3/1;CC=c.826-127delT;VC=Intron;DM=DEGS1/FA_desaturase;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:CT,C:18:19:0:5:14,4:451,166:0.00,10.97:0.00,10.97:0.00,0.00:0.00,0.72:0.00,0.72:0.00,0.00:60,60:36.5,25.0:0,1:0,0:49,69:101,82:34,34:-,NM_003676.3(DEGS1) c.826-140delT:-,NOT_FOUND:-,NOT_FOUND 1 224380181 . A . . NT END=224415327;NT GT ./. 1 224415373 . C . . NT END=224418927;NT GT ./. 1 224418834 rs140419434 CA C 6 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=22;PC=0.014;Gene=NVL/NM_001243146.1/0;CC=c.1959+93delT;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.2253+93delT;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.2526+93delT;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.2208+93delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:CA,I,C:16:18:3:5:11,2,3:351,95,131:0.00,4.67,6.31:0.00,4.74,6.42:0.00,-0.07,-0.11:0.00,0.00,0.51:0.00,0.00,0.90:0.00,0.00,0.41:60,60,60:8.5,16.5,83.7:0,1,2:0,0,0:79,33,20:72,117,131:60,8,16:-,NM_002533.3(NVL) c.2526+93delT:-,NOT_FOUND:-,NOT_FOUND 1 224418999 . C . . NT END=224420902;NT GT ./. 1 224420992 . C . . NT END=224424207;NT GT ./. 1 224424285 . C . . NT END=224437913;NT GT ./. 1 224424442 rs1976788 A G 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2518,C/.,G/0.7482;PC=0.002;Gene=NVL/NM_001243146.1/0;CC=c.1723-158T>C;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.2017-158T>C;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.2290-158T>C;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.1972-158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:1:0:0:16:509:58.52:3.68:54.85:1.00:1.00:1.00:60:60.2:0:0:110:40:15:NM_002533.3(NVL) c.2290-158T>C,NM_002533.3(NVL) c.2290-158T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 224424469 rs1976787 T C 36 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1109;Gene=NVL/NM_001243146.1/0;CC=c.1723-185A>G;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.2017-185A>G;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.2290-185A>G;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.1972-185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:1:0:0:11:310:36.23:1.89:34.34:1.00:1.00:1.00:60:67.6:0:0:124:27:15:NM_002533.3(NVL) c.2290-185A>G,NM_002533.3(NVL) c.2290-185A>G:1,1:NOT_FOUND,NOT_FOUND 1 224438021 . C . . NT END=224455735;NT GT ./. 1 224438220 rs10916562 T C 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.02915,C/0.9708;PC=0.016;Gene=NVL/NM_001243146.1/0;CC=c.1616-200A>G;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.1910-200A>G;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.2183-200A>G;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.1865-200A>G;VC=Intron;DM=NVL/AAA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:0:0:0:14:440:50.67:0.00:50.67:1.00:0.00:1.00:60:37.4:0:0:97:51:33:NM_002533.3(NVL) c.2183-200A>G,NM_002533.3(NVL) c.2183-200A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 224455836 . C . . NT END=224463040;NT GT ./. 1 224463161 . C . . NT END=224468824;NT GT ./. 1 224468888 . C . . NT END=224473727;NT GT ./. 1 224468986 rs34156240 C CGT 27 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8984,T/0.1016;DB;DBA=NA;PAF=NA;NP=1;NP=24;NP=344;NP=35;NP=49;PC=0.600;Gene=NVL/NM_001243146.1/0;CC=c.1333-100_1333-99insAC;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.1627-100_1627-99insAC;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.1900-100_1900-99insAC;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.1582-100_1582-99insAC;VC=Intron;DM=NVL/AAA;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:C,T,CGT,D:18:7:9:1:7,1,9,1:193,26,279,33:0.00,1.66,27.39,2.35:0.00,1.77,4.37,-0.06:0.00,-0.11,23.02,2.41:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:31.0,26.0,15.0,0.0:0,0,0,0:0,0,0,0:135,92,85,75:16,30,66,76:11,0,27,0:-,NM_002533.3(NVL) c.1900-100_1900-99insAC:-,NOT_FOUND:-,NOT_FOUND 1 224473833 . C . . NT END=224475476;NT GT ./. 1 224475696 . C . . NT END=224477185;NT GT ./. 1 224477436 . C . . NT END=224481968;NT GT ./. 1 224482114 . C . . NT END=224484202;NT GT ./. 1 224482216 rs2404783 T C 87 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.1787,C/0.8213;PC=0.001;Gene=NVL/NM_001243146.1/0;CC=c.614-103A>G;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.908-103A>G;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.1181-103A>G;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.863-103A>G;VC=Intron;DM=NVL/AAA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:C,G,T:32:2:0:0:29,1,2:769,12,24:87.07,0.34,0.00:3.73,0.00,0.00:83.33,0.34,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:35.4,60.0,125.0:0,0,0:0,0,0:95,133,71:56,18,68:31,0,60:NM_002533.3(NVL) c.1181-103A>G,NM_002533.3(NVL) c.1181-103A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 224484321 . C . . NT END=224488263;NT GT ./. 1 224488366 . C . . NT END=224491424;NT GT ./. 1 224491264 rs4654018 T A 111 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.01038,A/0.9896;NP=1206;PC=0.004;Gene=NVL/NM_001243146.1/0;CC=c.312+161A>T;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.687+161A>T;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.960+161A>T;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.642+161A>T;VC=Intron;DM=NVL/AAA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A,T:33:33:0:0:32,1:979,9:111.49,0.00:111.49,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.0,9.0:0,0:0,0:64,18:85,132:23,0:NM_002533.3(NVL) c.960+161A>T,NM_002533.3(NVL) c.960+161A>T:1,1:NOT_FOUND,NOT_FOUND 1 224491560 . C . . NT END=224492437;NT GT ./. 1 224491854 rs4653575 C T 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1569,T/0.8431;Gene=NVL/NM_001243146.1/0;CC=c.178-295G>A;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.553-295G>A;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.826-295G>A;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.508-295G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:40.6:0:0:104:46:16:NM_002533.3(NVL) c.826-295G>A,NM_002533.3(NVL) c.826-295G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 224492381 rs7522125 C T 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.01038,T/0.9896;NP=3463;Gene=NVL/NM_001243146.1/0;CC=c.177+57G>A;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.552+57G>A;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.825+57G>A;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.507+57G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G,T:36:31:0:0:1,35:25,1115:1.44,127.71:1.44,102.57:0.00,25.14:0.00,1.00:0.00,1.00:0.00,1.00:42,60:175.0,35.9:0,0:0,0:19,39:100,111:0,25:NM_002533.3(NVL) c.825+57G>A,NM_002533.3(NVL) c.825+57G>A:1,1:0.989269,0.989269 1 224492515 . C . . NT END=224492735;NT GT ./. 1 224492746 rs3754090 C T 244 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.1799,T/0.8201;PC=0.919;Gene=NVL/NM_001243146.1/0;CC=c.90G>A;ProtCh=p.L30=;VC=Silent;Gene=NVL/NM_001243147.1/0;CC=c.465G>A;ProtCh=p.L155=;VC=Silent;Gene=NVL/NM_002533.3/1;CC=c.738G>A;ProtCh=p.L246=;VC=Silent;Gene=NVL/NM_206840.2/0;CC=c.420G>A;ProtCh=p.L140=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:G,T:69:50:0:0:1,68:10,2121:0.13,243.90:0.00,137.15:0.13,106.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:121.0,37.5:0,0:0,0:2,69:143,78:0,32:NM_002533.3(NVL) c.738G>A (p.(=)),NM_002533.3(NVL) c.738G>A (p.(=)):0.85,0.85:0.825235,0.825235 1 224492869 . C . . NT END=224495692;NT GT ./. 1 224493002 rs7532244 T C 64 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1869;Gene=NVL/NM_001243146.1/0;CC=c.-33-134A>G;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.343-134A>G;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.616-134A>G;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.298-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:0:0:0:18:553:63.85:0.00:63.85:1.00:0.00:1.00:60:43.2:0:0:87:64:35:NM_002533.3(NVL) c.616-134A>G,NM_002533.3(NVL) c.616-134A>G:1,1:NOT_FOUND,NOT_FOUND 1 224495852 rs7534447 C T 286 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.1783,T/0.8217;Gene=NVL/NM_001243146.1/0;CC=c.-33-2984G>A;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.343-2984G>A;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.456G>A;ProtCh=p.R152=;VC=Silent;Gene=NVL/NM_206840.2/0;CC=c.138G>A;ProtCh=p.R46=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:76:47:0:0:76:2496:285.80:125.22:160.58:1.00:1.00:1.00:60:39.2:0:0:78:65:34:NM_002533.3(NVL) c.456G>A (p.(=)),NM_002533.3(NVL) c.456G>A (p.(=)):0.85,0.85:0.827157,0.827157 1 224495966 . C . . NT END=224499501;NT GT ./. 1 224499560 . C . . NT END=224505395;NT GT ./. 1 224505496 . C . . NT END=224505579;NT GT ./. 1 224505570 rs397695875 T TAA 158 nt VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2973;Gene=NVL/NM_001243146.1/0;CC=c.-134+8_-134+9dupTT;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.184+8_184+9dupTT;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.184+8_184+9dupTT;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.-135+8_-135+9dupTT;VC=Intron;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:T,TAA:48:30:45:0:3,45:84,1414:0.00,157.99:0.00,72.60:0.00,85.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,3.4:0,0:0,0:148,79:3,72:1,31:NM_002533.3(NVL) c.184+9_184+10insTT,NM_002533.3(NVL) c.184+9_184+10insTT:1,1:0.99952,0.99952 1 224505633 . C . . NT END=224514092;NT GT ./. 1 224505719 rs4436353 T G 71 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.006589,G/0.9934;NP=3061;Gene=NVL/NM_001243146.1/0;CC=c.-186-87A>C;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.132-87A>C;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.132-87A>C;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.-187-87A>C;VC=Intron;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:0:0:0:19:616:70.60:0.00:70.60:1.00:0.00:1.00:70:41.7:0:0:111:39:31:NM_002533.3(NVL) c.132-87A>C,NM_002533.3(NVL) c.132-87A>C:1,1:NOT_FOUND,NOT_FOUND 1 224513972 rs16846649 T C 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.9527,C/0.04732;Gene=NVL/NM_001243146.1/0;CC=c.-187+3801A>G;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.131+121A>G;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.131+121A>G;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.-188+3801A>G;VC=Intron;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:C,T:15:15:0:0:11,4:372,133:38.67,0.00:38.67,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.7,8.2:0,0:0,0:32,22:119,129:20,7:NM_002533.3(NVL) c.131+121A>G,-:0.05,-:NOT_FOUND,- 1 224514167 . C . . NT END=224517772;NT GT ./. 1 224514275 rs4653578 G A 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2768;Gene=NVL/NM_001243146.1/0;CC=c.-187+3498C>T;VC=Intron;Gene=NVL/NM_001243147.1/0;CC=c.58-109C>T;VC=Intron;Gene=NVL/NM_002533.3/1;CC=c.58-109C>T;VC=Intron;Gene=NVL/NM_206840.2/0;CC=c.-188+3498C>T;VC=Intron;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd;DM=NVL/Nucleolin_bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:0:0:0:13:420:48.20:0.00:48.20:1.00:0.00:1.00:60:46.6:0:0:102:49:29:NM_002533.3(NVL) c.58-109C>T,NM_002533.3(NVL) c.58-109C>T:1,1:NOT_FOUND,NOT_FOUND 1 224517830 . C . . NT END=224544626;NT GT ./. 1 224517842 rs2896990 C T 314 nt VT=SNV;PN=T;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.1701,T/0.8299;Gene=NVL/NM_001243146.1/0;CC=c.-256G>A;VC=5UTR;Gene=NVL/NM_001243147.1/0;CC=c.-13G>A;VC=5UTR;Gene=NVL/NM_002533.3/1;CC=c.-13G>A;VC=5UTR;Gene=NVL/NM_206840.2/0;CC=c.-257G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:85:60:0:0:85:2740:314.41:141.28:173.13:1.00:1.00:1.00:60:54.3:0:0:88:51:29:NM_002533.3(NVL) c.-13G>A,NM_002533.3(NVL) c.-13G>A:0.85,0.85:0.833308,0.833308 1 224517907 rs4146965 A T 205 nt VT=SNV;PN=G;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.1797,T/0.8203;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:T:58:23:0:0:58:1775:205.02:47.33:157.69:1.00:1.00:1.00:60:65.6:0:0:90:59:34:NM_002533.3(NVL) c.-62-u16T>A,NM_002533.3(NVL) c.-62-u16T>A:0.85,0.85:NOT_FOUND,NOT_FOUND 1 224518074 rs4146966 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1783,A/.,C/0.8217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:138:16.18:0.00:16.18:1.00:0.00:1.00:60:55.8:0:0:130:20:16:NM_002533.3(NVL) c.-62-u183A>G,NM_002533.3(NVL) c.-62-u183A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 224544529 rs7517754 A G 100 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.2684,G/0.7316;PC=0.001;Gene=CNIH4/NM_001277197.1/0;CC=c.-98A>G;VC=5UTR;Gene=CNIH4/NM_001277198.1/0;CC=c.-98A>G;VC=5UTR;Gene=CNIH4/NM_001277199.1/0;CC=c.-565A>G;VC=5UTR;Gene=CNIH4/NM_014184.3/1;CC=c.-98A>G;VC=5UTR;Gene=CNIH4/NR_102347.1/0;VC=NonCoding;Gene=CNIH4/NM_001277200.1/0;CC=c.-98A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:29:0:0:29:858:99.51:97.57:1.94:1.00:1.00:1.00:60:38.2:0:0:40:111:18:NM_014184.2(CNIH4) c.-32-u66A>G,NM_014184.2(CNIH4) c.-32-u66A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 224544746 . G . . NT END=224548196;NT GT ./. 1 224548266 . G . . NT END=224551810;NT GT ./. 1 224551937 rs35870517 CAA C 297 idl VT=DEL;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=CNIH4/NM_001277197.1/0;CC=c.139-1643_139-1642delAA;VC=Intron;Gene=CNIH4/NM_001277198.1/0;CC=c.139-1643_139-1642delAA;VC=Intron;Gene=CNIH4/NM_001277199.1/0;CC=c.-271_-270delAA;VC=5UTR;Gene=CNIH4/NM_014184.3/1;CC=c.139-1643_139-1642delAA;VC=Intron;Gene=CNIH4/NR_102347.1/0;VC=NonCoding;Gene=CNIH4/NM_001277200.1/0;CC=c.139-1643_139-1642delAA;VC=Intron;DM=CNIH4/Cornichon;DM=CNIH4/Cornichon;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:CAA,C:88:58:0:89:2,86:63,2604:0.00,297.23:0.00,155.37:0.00,141.86:0.00,1.00:0.00,1.00:0.00,1.00:60,70:6.0,6.5:0,11:0,0:149,56:1,93:1,33:NM_014184.2(CNIH4) c.139-1643_139-1642delAA,NM_014184.2(CNIH4) c.139-1643_139-1642delAA:0.74,0.74:NOT_FOUND,NOT_FOUND 1 224551943 . G GA 20 idl,rn VT=INS;SST=Single;DP=99;Gene=CNIH4/NM_001277197.1/0;CC=c.139-1628dupA;VC=Intron;Gene=CNIH4/NM_001277198.1/0;CC=c.139-1628dupA;VC=Intron;Gene=CNIH4/NM_001277199.1/0;CC=c.-256dupA;VC=5UTR;Gene=CNIH4/NM_014184.3/1;CC=c.139-1628dupA;VC=Intron;Gene=CNIH4/NR_102347.1/0;VC=NonCoding;Gene=CNIH4/NM_001277200.1/0;CC=c.139-1628dupA;VC=Intron;DM=CNIH4/Cornichon;DM=CNIH4/Cornichon;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G,GA,D:99:66:9:4:2,84,9,4:52,2634,281,125:2.08,0.00,19.56,7.34:-0.36,0.00,16.51,2.94:2.44,0.00,3.05,4.40:0.00,0.00,0.96,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:60,70,60,60:59.5,6.8,2.7,0.0:1,77,8,3:0,0,0,0:25,45,58,68:125,101,90,81:25,31,45,37:-,NM_014184.2(CNIH4) c.139-1638_139-1637insA:-,NOT_FOUND:-,NOT_FOUND 1 224552158 . g . . NT END=224553580;NT GT ./. 1 224553694 . G . . NT END=224558984;NT GT ./. 1 224558812 rs10799569 C G 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2718,G/0.7282;PC=0.002;Gene=CNIH4/NM_001277197.1/0;CC=c.252-4685C>G;VC=Intron;Gene=CNIH4/NM_001277198.1/0;CC=c.252-220C>G;VC=Intron;Gene=CNIH4/NM_001277199.1/0;CC=c.63-173C>G;VC=Intron;Gene=CNIH4/NM_014184.3/1;CC=c.252-173C>G;VC=Intron;Gene=CNIH4/NR_102347.1/0;VC=NonCoding;Gene=CNIH4/NM_001277200.1/0;CC=c.252-173C>G;VC=Intron;DM=CNIH4/Cornichon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:275:31.76:31.76:0.00:1.00:1.00:0.00:60:47.8:0:0:54:97:27:NM_014184.2(CNIH4) c.252-173C>G,NM_014184.2(CNIH4) c.252-173C>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 224559126 . G . . NT END=224563496;NT GT ./. 1 224559346 rs41307674 G A 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9946,A/0.005391;NP=7;Gene=CNIH4/NM_001277197.1/0;CC=c.252-4151G>A;VC=Intron;Gene=CNIH4/NM_001277198.1/0;CC=c.345+221G>A;VC=Intron;Gene=CNIH4/NM_001277199.1/0;CC=c.203+221G>A;VC=Intron;Gene=CNIH4/NM_014184.3/1;CC=c.392+221G>A;VC=Intron;Gene=CNIH4/NR_102347.1/0;VC=NonCoding;Gene=CNIH4/NM_001277200.1/0;CC=c.392+221G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,G:12:0:0:0:6,6:165,206:15.72,0.00:0.00,0.00:15.72,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:35.8,0.0:0,0:0,0:99,89:51,61:29,42:NM_014184.2(CNIH4) c.392+221G>A,-:0.01,-:NOT_FOUND,- 1 224564587 . G . . NT END=224566770;NT GT ./. 1 224566793 . T . . NT END=224577536;NT GT ./. 1 224567004 rs4654037 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.272,A/0.728;PC=0.020;Gene=CNIH4/NM_001277200.1/0;CC=c.*212G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:60:33.0:0:0:129:21:6:chr1 g.224567003G>A (intergenic),chr1 g.224567003G>A (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 1 224577563 . C . . NT END=224581529;NT GT ./. 1 224577604 rs41307688 G A 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.9946,A/0.005391;NP=82;Gene=WDR26/NM_001115113.2/0;CC=c.1913-42C>T;VC=Intron;Gene=WDR26/NM_025160.6/1;CC=c.1961-42C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:19:16:0:0:3,16:89,408:6.75,0.00:7.01,0.00:-0.26,0.00:0.51,0.00:0.88,0.00:0.51,0.00:60,60:34.7,8.4:0,0:0,0:100,93:50,45:24,19:NM_025160.6(WDR26) c.1961-42C>T,-:0.01,-:0.010968,- 1 224581716 . C . . NT END=224585798;NT GT ./. 1 224585929 . C . . NT END=224586216;NT GT ./. 1 224586296 . C . . NT END=224586590;NT GT ./. 1 224586737 . C . . NT END=224588651;NT GT ./. 1 224586836 rs377025189 GT G 10 rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=14;Gene=WDR26/NM_001115113.2/0;CC=c.1372-101delA;VC=Intron;Gene=WDR26/NM_025160.6/1;CC=c.1420-101delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:GT,I,G:39:8:1:5:33,1,5:976,34,139:0.00,1.92,9.87:0.00,-0.06,-0.33:0.00,1.98,10.20:0.00,0.00,0.77:0.00,0.00,0.62:0.00,0.00,0.97:60,60,70:17.0,0.0,41.2:0,0,0:0,0,0:115,52,121:36,99,16:33,0,14:-,NM_025160.6(WDR26) c.1420-101delA:-,NOT_FOUND:-,NOT_FOUND 1 224588772 . C . . NT END=224592131;NT GT ./. 1 224592273 . C . . NT END=224599128;NT GT ./. 1 224599268 . C . . NT END=224600954;NT GT ./. 1 224600910 rs10916612 C A 25 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.06809,A/0.9319;PC=0.005;Gene=WDR26/NM_001115113.2/0;CC=c.972-1643G>T;VC=Intron;Gene=WDR26/NM_025160.6/1;CC=c.1020-1643G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,C:17:12:0:0:10,7:257,134:25.49,0.00:27.55,0.00:-2.06,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:89.1,67.4:0,1:0,0:97,30:52,107:34,21:NM_025160.6(WDR26) c.1020-1643G>T,-:0.8,-:NOT_FOUND,- 1 224600920 rs10916613 C A 56 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.008786,A/0.9912;Gene=WDR26/NM_001115113.2/0;CC=c.972-1653G>T;VC=Intron;Gene=WDR26/NM_025160.6/1;CC=c.1020-1653G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:A,C:21:15:0:0:18,3:509,76:55.71,0.00:36.48,0.00:19.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.4,92.0:0,0:0,0:17,64:133,52:14,5:NM_025160.6(WDR26) c.1020-1653G>T,-:0.84,-:NOT_FOUND,- 1 224601038 . C . . NT END=224605961;NT GT ./. 1 224606119 . C . . NT END=224607219;NT GT ./. 1 224607318 . C . . NT END=224612219;NT GT ./. 1 224612357 . C . . NT END=224619178;NT GT ./. 1 224618977 rs6694310 G A 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.02776,A/0.9722;PC=0.010;Gene=WDR26/NM_001115113.2/0;CC=c.579+250C>T;VC=Intron;Gene=WDR26/NM_025160.6/1;CC=c.627+202C>T;VC=Intron;DM=WDR26/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:196:22.46:22.46:0.00:1.00:1.00:0.00:60:74.5:0:0:89:60:25:NM_025160.6(WDR26) c.627+202C>T,NM_025160.6(WDR26) c.627+202C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 224619015 rs6660212 A T 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.02776,T/0.9722;Gene=WDR26/NM_001115113.2/0;CC=c.579+212T>A;VC=Intron;Gene=WDR26/NM_025160.6/1;CC=c.627+164T>A;VC=Intron;DM=WDR26/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:321:36.87:36.87:0.00:1.00:1.00:0.00:60:52.5:0:0:59:91:46:NM_025160.6(WDR26) c.627+164T>A,NM_025160.6(WDR26) c.627+164T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 1 224619284 . C . . NT END=224619383;NT GT ./. 1 224619484 . C . . NT END=224621385;NT GT ./. 1 224621368 rs2405033 G C 389 nt VT=SNV;PN=G;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=NA;Gene=WDR26/NM_001115113.2/0;CC=c.422+18C>G;VC=Intron;Gene=WDR26/NM_025160.6/1;CC=c.422+18C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:110:67:0:0:1,109:11,3377:0.12,388.99:0.12,220.14:0.00,168.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:127.0,45.4:0,0:0,0:13,44:136,106:0,21:NM_025160.6(WDR26) c.422+18C>G,NM_025160.6(WDR26) c.422+18C>G:1,1:0.999781,0.999781 1 224621906 rs144531645 C CGGA 242 rn VT=INS;SST=Single;DP=331;DB;DBA=NA;PAF=C/0.8017,CGGA/0.1983;NP=91;PC=1.000;Gene=WDR26/NM_001115113.2/0;CC=c.-100_-99insTCC;VC=5UTR;Gene=WDR26/NM_025160.6/1;CC=c.-100_-99insTCC;VC=5UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,CGGA,D:331:195:93:13:1,223,1,93,13:27,6825,12,2807,390:0.45,0.00,-0.24,241.87,23.36:-0.13,0.00,-0.08,93.00,13.19:0.58,0.00,-0.16,148.86,10.17:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:40.0,12.5,81.0,7.3,2.4:1,0,0,0,0:0,0,0,0,0:44,100,129,81,86:107,47,18,69,65:0,28,0,22,22:-,NM_025160.6(WDR26) c.-102_-100dupTCC:-,0.2:-,NOT_FOUND 1 224622109 . G . . NT END=224622487;NT GT ./. 1 224622890 . G . . NT END=224641979;NT GT ./. 1 224641959 rs397717622 G GT 36 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.5537,GT/0.4463,GTT/.,GTTT/.;DB;DBA=NA;PAF=G/0.5537,GT/0.4463;NP=1;NP=75;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:25:32:22:1:12,12,1:364,689,33:0.00,35.57,2.09:0.00,24.84,1.00:0.00,10.74,1.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:30.2,121.7,18.0:0,10,0:0,0,0:121,36,45:18,109,105:7,29,0:-,chr1 g.224641959_224641960insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 224642046 . G . . NT END=224646898;NT GT ./. 1 224644973 . CTCTCTGTGTG C 12 nt VT=DEL;SST=Single;DP=6;NP=35;PC=0.017;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CTCTCTGTGTG,C:5:5:0:6:1,4:34,151:0.00,12.31:0.00,4.86:0.00,7.45:0.00,0.93:0.00,0.99:0.00,0.97:60,70:0.0,31.2:1,1:0,0:111,64:40,87:0,41:-,chr1 g.224644974_224644983delTCTCTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 224646893 rs68180634 GCTTAGATCAAGT G 132 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=GCTTAGATCAAGT/0.2732,G/0.7268;DB;DBA=NA;PAF=GCTTAGATCAAGT/0.2732,G/0.7268;NP=655;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:GCTTAGATCAAGT,G:38:32:0:36:2,36:63,1187:0.00,132.46:0.00,85.29:0.00,47.16:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,4.6:0,0:0,0:135,71:4,77:0,22:chr1 g.224646894_224646905delCTTAGATCAAGT (intergenic),chr1 g.224646894_224646905delCTTAGATCAAGT (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 1 224646926 . c . . NT END=224734563;NT GT ./. 1 224734642 . G . . NT END=224804178;NT GT ./. 1 224763144 rs57325458 AT A 11 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=AT/0.6442,A/0.3558;NP=471;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:AT,I,A:11:5:1:5:6,1,4:200,33,119:0.00,2.49,10.87:0.00,-0.06,3.41:0.00,2.55,7.46:0.00,0.00,0.82:0.00,0.00,0.89:0.00,0.00,0.98:60,60,60:0.0,0.0,5.5:0,0,0:0,0,0:88,112,126:62,39,24:41,0,3:-,chr1 g.224763145delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 224804958 . G . . NT END=224868659;NT GT ./. 1 224805112 rs1532557 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7041,T/0.2959;PC=0.003;Gene=CNIH3/NM_152495.1/1;CC=c.81+155C>T;VC=Intron;DM=CNIH3/Cornichon GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:0:0:0:7,6:200,194:0.00,18.38:0.00,0.00:0.00,18.38:0.00,0.97:0.00,0.00:0.00,0.97:60,60:15.3,41.8:0,0:0,0:138,132:13,16:7,12:-,NM_152495.1(CNIH3) c.81+155C>T:-,0.29:-,NOT_FOUND 1 224868729 . G . . NT END=224872497;NT GT ./. 1 224872546 . G . . NT END=224918163;NT GT ./. 1 224918277 . G . . NT END=224922264;NT GT ./. 1 224922409 . G . . NT END=224927030;NT GT ./. 1 224927059 . C . . NT END=225140404;NT GT ./. 1 224927217 rs3738362 C T 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8576,T/0.1424;Gene=CNIH3/NM_152495.1/1;CC=c.*159C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:7,8:238,240:0.00,23.30:0.00,0.00:0.00,23.30:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,37.5:0,0:0,0:108,108:43,43:27,15:-,NM_152495.1(CNIH3) c.*159C>T:-,0.16:-,NOT_FOUND 1 225140482 . G . . NT END=225142660;NT GT ./. 1 225142801 . G . . NT END=225147854;NT GT ./. 1 225142971 rs12748878 G C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9,C/0.1;PC=0.003;Gene=DNAH14/NM_001145154.1/0;CC=c.217+171G>C;VC=Intron;Gene=DNAH14/NM_001373.1/1;CC=c.217+171G>C;VC=Intron;Gene=DNAH14/NM_144989.2/0;CC=c.217+171G>C;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/Dynein_heavy;DM=DNAH14/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:0:0:0:8,8:210,215:19.97,0.00:0.00,0.00:19.97,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.6,7.4:0,0:0,0:64,93:86,58:55,28:NM_001373.1(DNAH14) c.217+171G>C,-:0.12,-:NOT_FOUND,- 1 225148005 . G . . NT END=225152180;NT GT ./. 1 225152312 . G . . NT END=225155132;NT GT ./. 1 225152505 rs12023087 G A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6516,A/0.3484;Gene=DNAH14/NM_001145154.1/0;CC=c.498+194G>A;VC=Intron;Gene=DNAH14/NM_001373.1/1;CC=c.498+194G>A;VC=Intron;Gene=DNAH14/NM_144989.2/0;CC=c.498+194G>A;VC=Intron;DM=DNAH14/Dynein_heavy;DM=DNAH14/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:191:22.41:0.00:22.41:1.00:0.00:1.00:60:29.6:0:0:83:68:44:NM_001373.1(DNAH14) c.498+194G>A,NM_001373.1(DNAH14) c.498+194G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 1 225155114 . AT A 13 rn VT=DEL;SST=Single;DP=26;NP=31;PC=0.048;Gene=DNAH14/NM_001145154.1/0;CC=c.499-9delT;VC=Intron;Gene=DNAH14/NM_001373.1/1;CC=c.499-9delT;VC=Intron;Gene=DNAH14/NM_144989.2/0;CC=c.499-9delT;VC=Intron;DM=DNAH14/Dynein_heavy;DM=DNAH14/DHC_N2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:AT,A:26:20:0:5:21,5:648,158:0.00,12.67:0.00,10.44:0.00,2.23:0.00,0.82:0.00,0.96:0.00,0.91:60,60:23.9,5.6:0,0:0,0:43,56:105,94:25,25:-,NM_001373.1(DNAH14) c.499-18delT:-,NOT_FOUND:-,NOT_FOUND 1 225155286 . G . . NT END=225155381;NT GT ./. 1 225155627 . C . . NT END=225156460;NT GT ./. 1 225156457 rs16858926 G A 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.8664,A/0.1336;PC=0.007;Gene=DNAH14/NM_001145154.1/0;CC=c.652-4G>A;VC=Intron;Gene=DNAH14/NM_001373.1/1;CC=c.652-4G>A;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_7;DM=DNAH14/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:33:0:0:20,15:658,511:64.96,0.00:48.81,0.00:16.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,4.1:0,0:0,0:44,35:97,113:29,15:NM_001373.1(DNAH14) c.652-4G>A,-:0.14,-:NOT_FOUND,- 1 225156577 . G . . NT END=225161792;NT GT ./. 1 225156832 rs41267351 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9988,G/0.001198;NP=2;PC=0.003;Gene=DNAH14/NM_001145154.1/0;CC=c.767+256A>G;VC=Intron;Gene=DNAH14/NM_001373.1/1;CC=c.767+256A>G;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_7;DM=DNAH14/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:116:13.49:0.00:13.49:1.00:0.00:1.00:60:56.8:0:0:114:33:25:NM_001373.1(DNAH14) c.767+256A>G,NM_001373.1(DNAH14) c.767+256A>G:0.0023,0.0023:NOT_FOUND,NOT_FOUND 1 225161856 . G . . NT END=225190484;NT GT ./. 1 225190630 . G . . NT END=225195114;NT GT ./. 1 225195247 . G . . NT END=225211316;NT GT ./. 1 225211031 rs2456340 T A 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.225,A/0.775;PC=0.030;Gene=DNAH14/NM_001145154.1/0;CC=c.1108-286T>A;VC=Intron;Gene=DNAH14/NM_001373.1/1;CC=c.1108-286T>A;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:70.8:0:0:8:142:8:NM_001373.1(DNAH14) c.1108-286T>A,NM_001373.1(DNAH14) c.1108-286T>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 225211684 rs2501114 G A 295 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.225,A/0.775;Gene=DNAH14/NM_001145154.1/0;CC=c.*113G>A;VC=3UTR;Gene=DNAH14/NM_001373.1/1;CC=c.1358+117G>A;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:82:42:0:0:82:2560:294.92:117.67:177.25:1.00:1.00:1.00:60:38.6:0:0:87:64:32:NM_001373.1(DNAH14) c.1358+117G>A,NM_001373.1(DNAH14) c.1358+117G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 225211934 rs2501113 G A 159 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.1148,A/0.8852;PC=0.011;Gene=DNAH14/NM_001145154.1/0;CC=c.*363G>A;VC=3UTR;Gene=DNAH14/NM_001373.1/1;CC=c.1358+367G>A;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A,G:44:28:0:0:43,1:1400,11:158.71,0.00:67.98,0.00:90.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.6,12.0:0,0:0,0:54,28:78,122:24,0:NM_001373.1(DNAH14) c.1358+367G>A,NM_001373.1(DNAH14) c.1358+367G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 225211992 . T . . NT END=225226395;NT GT ./. 1 225212040 rs2456339 T A 98 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.225,A/0.775;Gene=DNAH14/NM_001373.1/1;CC=c.1358+473T>A;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:10:0:0:27:849:97.70:20.08:77.62:1.00:1.00:1.00:60:56.5:0:0:105:34:27:NM_001373.1(DNAH14) c.1358+473T>A,NM_001373.1(DNAH14) c.1358+473T>A:0.79,0.79:NOT_FOUND,NOT_FOUND 1 225226129 rs2449303 G T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2985,T/0.7015;PC=0.010;Gene=DNAH14/NM_001373.1/1;CC=c.1359-267G>T;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:60:61.2:0:0:32:119:21:NM_001373.1(DNAH14) c.1359-267G>T,NM_001373.1(DNAH14) c.1359-267G>T:0.73,0.73:NOT_FOUND,NOT_FOUND 1 225226167 rs2501108 A G 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2985,G/0.7015;PC=0.004;Gene=DNAH14/NM_001373.1/1;CC=c.1359-229A>G;VC=Intron;DM=DNAH14/DHC_N2;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:269:31.18:31.18:0.00:1.00:1.00:0.00:60:53.2:0:0:33:118:15:NM_001373.1(DNAH14) c.1359-229A>G,NM_001373.1(DNAH14) c.1359-229A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 225226526 . G . . NT END=225230536;NT GT ./. 1 225230608 rs2501107 C T 307 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.2987,T/0.7013;PC=0.210;Gene=DNAH14/NM_001373.1/1;CC=c.1560C>T;ProtCh=p.C520=;VC=Silent;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:84:56:0:0:84:2671:307.07:159.88:147.18:1.00:1.00:1.00:60:38.8:0:0:66:83:42:NM_001373.1(DNAH14) c.1560C>T (p.(=)),NM_001373.1(DNAH14) c.1560C>T (p.(=)):0.74,0.74:0.824354,0.824354 1 225230817 . G . . NT END=225231445;NT GT ./. 1 225231492 . G . . NT END=225231587;NT GT ./. 1 225231686 . G . . NT END=225237911;NT GT ./. 1 225237850 rs2501086 A C 101 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2987,C/0.7013;PC=0.002;Gene=DNAH14/NM_001373.1/1;CC=c.1913-62A>C;VC=Intron;DM=DNAH14/AAA_8;DM=DNAH14/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:25:0:0:28:875:100.77:80.59:20.18:1.00:1.00:1.00:60:36.6:0:0:43:107:19:NM_001373.1(DNAH14) c.1913-62A>C,NM_001373.1(DNAH14) c.1913-62A>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 225238079 . G . . NT END=225239152;NT GT ./. 1 225239498 . G . . NT END=225266908;NT GT ./. 1 225266966 rs3105559 C G 285 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.2977,G/0.7023;PC=1.000;Gene=DNAH14/NM_001373.1/1;CC=c.2482C>G;ProtCh=p.L828V;VC=Missense;DM=DNAH14/AAA_6;DM=DNAH14/MT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:77:63:0:0:1,76:8,2495:0.08,285.16:0.00,192.33:0.08,92.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:92.0,46.4:0,0:0,0:66,86:84,55:0,32:NM_001373.1(DNAH14) c.2482C>G (p.Leu828Val),NM_001373.1(DNAH14) c.2482C>G (p.Leu828Val):0.74,0.74:0.826611,0.826611 1 225267251 . G . . NT END=225268080;NT GT ./. 1 225268343 rs3128651 A G 290 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.2967,G/0.7033;Gene=DNAH14/NM_001373.1/1;CC=c.3029A>G;ProtCh=p.K1010R;VC=Missense;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:38:0:0:80:2525:290.49:98.31:192.18:1.00:1.00:1.00:60:71.7:0:0:77:69:27:NM_001373.1(DNAH14) c.3029A>G (p.Lys1010Arg),NM_001373.1(DNAH14) c.3029A>G (p.Lys1010Arg):0.73,0.73:0.826763,0.826763 1 225268346 rs3128652 G A 287 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.2973,A/0.7027;Gene=DNAH14/NM_001373.1/1;CC=c.3032G>A;ProtCh=p.R1011Q;VC=Missense;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:37:0:0:79:2495:286.94:95.77:191.17:1.00:1.00:1.00:60:72.4:0:0:78:68:26:NM_001373.1(DNAH14) c.3032G>A (p.Arg1011Gln),NM_001373.1(DNAH14) c.3032G>A (p.Arg1011Gln):0.74,0.74:0.826763,0.826763 1 225268451 . G . . NT END=225270250;NT GT ./. 1 225270022 rs3105561 T C 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2967,C/0.7033;Gene=DNAH14/NM_001373.1/1;CC=c.3137-229T>C;VC=Intron;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:140:15.91:7.85:8.05:1.00:1.00:1.00:60:37.8:0:0:46:104:19:NM_001373.1(DNAH14) c.3137-229T>C,NM_001373.1(DNAH14) c.3137-229T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 225270409 rs3128655 A T 259 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.3379,T/0.6621;PC=0.997;Gene=DNAH14/NM_001373.1/1;CC=c.3295A>T;ProtCh=p.N1099Y;VC=Missense;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:69:38:0:0:69:2260:258.89:92.55:166.35:1.00:1.00:1.00:60:36.8:0:0:82:59:27:NM_001373.1(DNAH14) c.3295A>T (p.Asn1099Tyr),NM_001373.1(DNAH14) c.3295A>T (p.Asn1099Tyr):0.69,0.69:0.761717,0.761717 1 225270442 . G . . NT END=225273245;NT GT ./. 1 225273248 rs3128658 G T 255 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.2979,T/0.7021;PC=1.000;Gene=DNAH14/NM_001373.1/1;CC=c.3330G>T;ProtCh=p.M1110I;VC=Missense;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:69:56:0:0:69:2223:255.14:167.14:88.00:1.00:1.00:1.00:60:37.9:0:0:63:86:28:NM_001373.1(DNAH14) c.3330G>T (p.Met1110Ile),NM_001373.1(DNAH14) c.3330G>T (p.Met1110Ile):0.74,0.74:0.825132,0.825132 1 225273492 . G . . NT END=225284819;NT GT ./. 1 225273633 rs3105565 T A 72 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2977,A/0.7023;Gene=DNAH14/NM_001373.1/1;CC=c.3573+142T>A;VC=Intron;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:0:0:0:19:628:71.86:0.00:71.86:1.00:0.00:1.00:60:38.8:0:0:74:77:19:NM_001373.1(DNAH14) c.3573+142T>A,NM_001373.1(DNAH14) c.3573+142T>A:0.74,0.74:NOT_FOUND,NOT_FOUND 1 225284942 . G . . NT END=225288414;NT GT ./. 1 225288587 . G . . NT END=225305385;NT GT ./. 1 225305491 . G . . NT END=225305582;NT GT ./. 1 225305702 . G . . NT END=225306921;NT GT ./. 1 225306997 . G . . NT END=225328432;NT GT ./. 1 225328724 . G . . NT END=225332098;NT GT ./. 1 225332331 . G . . NT END=225333027;NT GT ./. 1 225333082 . G . . NT END=225334805;NT GT ./. 1 225334952 . G . . NT END=225339706;NT GT ./. 1 225339776 . G . . NT END=225340398;NT GT ./. 1 225340241 rs1842332 T C 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8253,C/0.1747;PC=0.050;Gene=DNAH14/NM_001373.1/1;CC=c.4959-158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:C,T:16:16:0:0:10,6:323,182:32.44,0.00:32.44,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.2,2.7:0,0:0,0:42,18:108,133:36,10:NM_001373.1(DNAH14) c.4959-158T>C,-:0.17,-:NOT_FOUND,- 1 225340586 . G . . NT END=225341451;NT GT ./. 1 225341529 . G . . NT END=225347030;NT GT ./. 1 225346975 rs1480101 C G 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.779,G/0.221;Gene=DNAH14/NM_001373.1/1;CC=c.5223-56C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:26:0:0:15,18:458,561:0.00,54.80:0.00,37.45:0.00,17.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,44.7:0,0:0,0:25,36:126,106:19,24:-,NM_001373.1(DNAH14) c.5223-56C>G:-,0.2:-,NOT_FOUND 1 225347188 . G . . NT END=225355640;NT GT ./. 1 225355731 . G . . NT END=225372992;NT GT ./. 1 225355902 rs7518395 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5695,G/0.4305;PC=0.163;Gene=DNAH14/NM_001373.1/1;CC=c.5469+172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:5:0:0:0:2,3:60,104:0.00,10.37:0.00,0.00:0.00,10.37:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,39.3:0,0:0,0:94,84:56,67:14,47:-,NM_001373.1(DNAH14) c.5469+172A>G:-,0.4:-,NOT_FOUND 1 225373072 rs61851487 C T 89 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.8249,T/0.1751;Gene=DNAH14/NM_001373.1/1;CC=c.5549C>T;ProtCh=p.T1850M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:32:0:0:27,28:858,919:0.00,88.69:0.00,34.82:0.00,53.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,37.9:0,0:0,0:84,87:67,64:34,38:-,NM_001373.1(DNAH14) c.5549C>T (p.Thr1850Met):-,0.16:-,0.122646 1 225373128 . G . . NT END=225380397;NT GT ./. 1 225380614 . G . . NT END=225391884;NT GT ./. 1 225391976 . G . . NT END=225393672;NT GT ./. 1 225393587 rs12097990 C T 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7792,G/.,T/0.2208;PC=0.003;Gene=DNAH14/NM_001373.1/1;CC=c.5912-86C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:21:0:0:9,13:292,410:0.00,40.74:0.00,41.32:0.00,-0.58:0.00,1.00:0.00,1.00:0.00,0.86:60,60:13.8,48.2:0,0:0,0:21,37:130,111:10,32:-,NM_001373.1(DNAH14) c.5912-86C>T:-,0.2:-,NOT_FOUND 1 225393882 . G . . NT END=225394669;NT GT ./. 1 225394002 rs12077485 T C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.779,C/0.221;Gene=DNAH14/NM_001373.1/1;CC=c.6120+121T>C;VC=Intron;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,T:7:0:0:0:3,4:77,135:7.04,0.00:0.00,0.00:7.04,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:25.7,0.0:0,0:0,0:62,87:89,63:6,18:NM_001373.1(DNAH14) c.6120+121T>C,-:0.2,-:NOT_FOUND,- 1 225394146 rs1610406 A G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.07328,G/0.9267;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.6120+265A>G;VC=Intron;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:118:13.70:0.00:13.70:1.00:0.00:1.00:60:43.8:0:0:101:48:13:NM_001373.1(DNAH14) c.6120+265A>G,NM_001373.1(DNAH14) c.6120+265A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 1 225394645 rs1466468 A T 79 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.8247,T/0.1753;PC=0.018;Gene=DNAH14/NM_001373.1/1;CC=c.6121-25A>T;VC=Intron;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:53:43:0:0:26,27:865,826:0.00,79.49:0.00,61.63:0.00,17.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,38.3:0,0:0,0:60,45:88,96:32,25:-,NM_001373.1(DNAH14) c.6121-25A>T:-,0.17:-,0.121053 1 225394923 . G . . NT END=225418774;NT GT ./. 1 225395211 rs1480107 T A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.779,A/0.221;PC=0.004;Gene=DNAH14/NM_001373.1/1;CC=c.6373+289T>A;VC=Intron;DM=DNAH14/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,T:6:0:0:0:4,2:134,46:13.67,0.00:0.00,0.00:13.67,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:41.8,30.5:0,0:0,0:115,73:35,78:21,41:NM_001373.1(DNAH14) c.6373+289T>A,-:0.2,-:NOT_FOUND,- 1 225418854 . G . . NT END=225428294;NT GT ./. 1 225428525 . G . . NT END=225440002;NT GT ./. 1 225439988 rs630120 T C 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.515,C/0.485;PC=0.009;Gene=DNAH14/NM_001373.1/1;CC=c.6731-15T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:16:0:0:9,8:298,264:28.99,0.00:25.00,0.00:3.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,8.4:0,0:0,0:25,33:126,107:14,23:NM_001373.1(DNAH14) c.6731-15T>C,-:0.45,-:0.34735,- 1 225440120 . G . . NT END=225445661;NT GT ./. 1 225445589 rs386369798 C CA 29 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;PC=0.006;Gene=DNAH14/NM_001373.1/1;CC=c.6848-59dupA;VC=Intron;DM=DNAH14/MT;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,CA,D:22:25:13:6:8,10,4:218,402,159:0.00,29.35,10.69:0.00,27.87,9.27:0.00,1.48,1.41:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.79,0.00:60,60,60:45.4,53.5,8.5:1,3,1:0,0,0:61,37,34:88,113,117:24,25,26:-,NM_001373.1(DNAH14) c.6848-73_6848-72insA:-,NOT_FOUND:-,NOT_FOUND 1 225445652 rs670255 G T 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.515,T/0.485;PC=0.002;Gene=DNAH14/NM_001373.1/1;CC=c.6848-10G>T;VC=Intron;DM=DNAH14/MT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:48:43:0:0:17,31:551,964:0.00,97.55:0.00,68.56:0.00,28.99:0.00,1.00:0.00,1.00:0.00,1.00:60,70:1.7,47.2:0,0:0,0:31,70:105,74:24,37:-,NM_001373.1(DNAH14) c.6848-10G>T:-,0.45:-,0.324354 1 225445821 . G . . NT END=225446822;NT GT ./. 1 225446956 . G . . NT END=225451898;NT GT ./. 1 225451964 . G . . NT END=225452883;NT GT ./. 1 225453072 . G . . NT END=225454342;NT GT ./. 1 225454472 . G . . NT END=225458436;NT GT ./. 1 225458569 . G . . NT END=225459607;NT GT ./. 1 225459776 . G . . NT END=225460656;NT GT ./. 1 225460626 rs656649 T A 77 nt VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.5579,A/0.4421;Gene=DNAH14/NM_001373.1/1;CC=c.7822-31T>A;VC=Intron;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:69:66:0:0:26,1,42:839,12,1345:76.66,-0.05,0.00:70.36,-0.00,0.00:6.29,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.5,86.0,8.6:0,0,0:0,0,0:71,103,53:78,44,98:17,0,29:NM_001373.1(DNAH14) c.7822-31T>A,-:0.37,-:0.208589,- 1 225460828 . G . . NT END=225477586;NT GT ./. 1 225477491 rs12024361 C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.6615,T/0.3385;Gene=DNAH14/NM_001373.1/1;CC=c.7993-96C>T;VC=Intron;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:16,8:520,259:0.00,23.08:0.00,23.26:0.00,-0.18:0.00,0.99:0.00,0.99:0.00,0.63:60,60:11.9,72.1:0,0:0,0:40,48:107,99:20,9:-,NM_001373.1(DNAH14) c.7993-96C>T:-,0.33:-,NOT_FOUND 1 225477546 rs12042076 A C 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.6613,C/0.3387;Gene=DNAH14/NM_001373.1/1;CC=c.7993-41A>C;VC=Intron;DM=DNAH14/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:41:37:0:0:26,15:816,420:0.00,37.45:0.00,35.39:0.00,2.06:0.00,1.00:0.00,1.00:0.00,0.98:60,60:7.8,54.0:0,0:0,0:48,53:100,91:30,39:-,NM_001373.1(DNAH14) c.7993-41A>C:-,0.33:-,0.293693 1 225477785 . G . . NT END=225488570;NT GT ./. 1 225477793 rs12042900 T G 76 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.6615,G/0.3385;Gene=DNAH14/NM_001373.1/1;CC=c.8190+9T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:47:16:0:0:25,22:778,716:75.60,0.00:20.09,0.00:55.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,20.5:0,0:0,0:79,91:72,57:33,27:NM_001373.1(DNAH14) c.8190+9T>G,-:0.33,-:0.294131,- 1 225477869 rs36116837 A G 42 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7839,G/0.2161,T/.;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.8190+85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:4:0:0:15,13:454,439:0.00,41.71:0.00,1.19:0.00,40.51:0.00,1.00:0.00,0.92:0.00,1.00:60,60:30.3,44.2:0,0:0,0:105,109:46,42:28,32:-,NM_001373.1(DNAH14) c.8190+85A>G:-,0.21:-,NOT_FOUND 1 225488733 . G . . NT END=225490857;NT GT ./. 1 225488896 rs55794003 C A 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8165,A/0.1835;Gene=DNAH14/NM_001373.1/1;CC=c.8352+164C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,C:11:0:0:0:7,4:248,86:25.07,0.00:0.00,0.00:25.07,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.0,3.0:0,0:0,0:67,95:83,55:9,28:NM_001373.1(DNAH14) c.8352+164C>A,-:0.18,-:NOT_FOUND,- 1 225490809 rs17580673 C T 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.88,T/0.12;Gene=DNAH14/NM_001373.1/1;CC=c.8353-49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:24:22:0:0:13,1,10:397,10,323:0.00,0.08,30.23:0.00,0.13,29.11:0.00,-0.05,1.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.89:60,60,60:17.4,75.0,41.1:0,0,0:0,0,0:48,77,26:103,74,124:19,0,22:-,NM_001373.1(DNAH14) c.8353-49C>T:-,0.12:-,NOT_FOUND 1 225491050 . G . . NT END=225492609;NT GT ./. 1 225492360 rs12751491 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6751,A/0.3249;Gene=DNAH14/NM_001373.1/1;CC=c.8545-250G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:6:6:0:0:3,3:99,103:9.52,0.00:9.52,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.0,16.3:0,0:0,0:25,86:126,65:13,22:NM_001373.1(DNAH14) c.8545-250G>A,-:0.32,-:NOT_FOUND,- 1 225492545 rs1995482 A G 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6743,G/0.3257;Gene=DNAH14/NM_001373.1/1;CC=c.8545-65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:29:0:0:22,11:729,330:0.00,29.09:0.00,16.94:0.00,12.15:0.00,1.00:0.00,1.00:0.00,0.98:60,60:7.2,34.1:0,0:0,0:32,19:115,131:23,5:-,NM_001373.1(DNAH14) c.8545-65A>G:-,0.32:-,NOT_FOUND 1 225492792 . G . . NT END=225495162;NT GT ./. 1 225492845 rs12034925 C T 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.6619,T/0.3381;PC=0.017;Gene=DNAH14/NM_001373.1/1;CC=c.8726+54C>T;VC=Intron;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:8:0:0:15,11:419,373:0.00,34.87:0.00,6.45:0.00,28.42:0.00,1.00:0.00,0.98:0.00,1.00:60,60:19.8,38.1:0,0:0,0:115,105:36,46:23,29:-,NM_001373.1(DNAH14) c.8726+54C>T:-,0.33:-,NOT_FOUND 1 225495272 . G . . NT END=225495986;NT GT ./. 1 225495656 rs10495236 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7861,T/0.2139;Gene=DNAH14/NM_001373.1/1;CC=c.8836-331C>T;VC=Intron;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:6:5:0:0:2,4:67,133:0.00,13.55:0.00,10.05:0.00,3.50:0.00,0.93:0.00,0.99:0.00,0.78:60,60:18.0,74.8:0,0:0,0:20,37:130,113:8,13:-,NM_001373.1(DNAH14) c.8836-331C>T:-,0.22:-,NOT_FOUND 1 225495697 rs7524527 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5246,A/0.4754;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.8836-290G>A;VC=Intron;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,G:5:5:0:0:3,2:102,60:10.17,0.00:10.17,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:71.7,18.0:0,0:0,0:74,61:77,89:9,8:NM_001373.1(DNAH14) c.8836-290G>A,-:0.47,-:NOT_FOUND,- 1 225496113 . G . . NT END=225506284;NT GT ./. 1 225506262 rs4653418 G A 83 nt VT=SNV;PN=T;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7845,A/0.2155;Gene=DNAH14/NM_001373.1/1;CC=c.8962-23G>A;VC=Intron;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:48:0:0:27,32:876,1080:82.80,0.00:50.02,0.00:32.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,0.8:0,0:0,0:47,58:104,92:27,34:NM_001373.1(DNAH14) c.8962-23G>A,-:0.22,-:0.187473,- 1 225506380 . G . . NT END=225510365;NT GT ./. 1 225510310 rs568320182 AG A 82 nt VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=AG/0.9982,A/0.001797;NP=10;Gene=DNAH14/NM_001373.1/1;CC=c.9057-53delG;VC=Intron;DM=DNAH14/Dynein_heavy;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:54:50:0:27:27,27:831,855:0.00,82.17:0.00,68.37:0.00,13.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.7,1.9:0,0:0,0:44,43:107,106:26,20:-,NM_001373.1(DNAH14) c.9057-55delG:-,NOT_FOUND:-,NOT_FOUND 1 225510526 . G . . NT END=225511923;NT GT ./. 1 225510641 rs1532771 T C 107 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.5743,C/0.4257;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.9216+116T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:1:0:0:29:932:106.97:1.99:104.98:1.00:1.00:1.00:60:42.5:0:0:100:46:40:NM_001373.1(DNAH14) c.9216+116T>C,NM_001373.1(DNAH14) c.9216+116T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 1 225510720 rs5781397 CT C 36 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CT/0.8594,C/0.1406;NP=12;PC=0.005;Gene=DNAH14/NM_001373.1/1;CC=c.9216+196delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:CT,C:16:0:0:11:5,11:152,346:0.00,35.54:0.00,0.00:0.00,35.54:0.00,1.00:0.00,0.00:0.00,1.00:60,60:61.6,25.8:0,0:0,0:117,99:33,52:29,21:-,NM_001373.1(DNAH14) c.9216+196delT:-,0.12:-,NOT_FOUND 1 225511644 rs1969100 G A 24 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3147,A/0.6853;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.9217-280G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:207:24.02:22.23:1.79:1.00:1.00:1.00:60:39.9:0:0:24:119:8:NM_001373.1(DNAH14) c.9217-280G>A,NM_001373.1(DNAH14) c.9217-280G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 1 225511905 rs10799300 T C 111 nt VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.7504,C/0.2496;Gene=DNAH14/NM_001373.1/1;CC=c.9217-19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:58:0:0:34,32:1146,1031:110.97,0.00:88.70,0.00:22.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,4.2:0,0:0,0:60,35:89,108:26,29:NM_001373.1(DNAH14) c.9217-19T>C,-:0.21,-:0.245291,- 1 225512056 . G . . NT END=225512438;NT GT ./. 1 225512083 rs12032942 A G 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.8602,G/0.1398;Gene=DNAH14/NM_001373.1/1;CC=c.9348+28A>G;VC=Intron;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:31:0:0:42,30:1341,977:0.00,90.78:0.00,23.07:0.00,67.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,37.2:0,0:0,0:86,81:53,54:26,31:-,NM_001373.1(DNAH14) c.9348+28A>G:-,0.12:-,0.125274 1 225512402 rs75859387 GT G 75 nt VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=GT/0.7823,G/0.2177;NP=333;PC=0.009;Gene=DNAH14/NM_001373.1/1;CC=c.9349-32delT;VC=Intron;DM=DNAH14/Dynein_heavy;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:41:28:0:25:16,25:510,753:0.00,75.30:0.00,33.78:0.00,41.52:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.8,2.8:0,0:0,0:40,62:110,88:28,39:-,NM_001373.1(DNAH14) c.9349-36delT:-,0.22:-,0.187565 1 225512535 . G . . NT END=225519138;NT GT ./. 1 225519280 . G . . NT END=225520992;NT GT ./. 1 225519445 rs78032721 G T 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8544,T/0.1456;Gene=DNAH14/NM_001373.1/1;CC=c.9585+166G>T;VC=Intron;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:0:0:0:11,9:340,292:0.00,27.53:0.00,0.00:0.00,27.53:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.2,32.4:0,0:0,0:82,85:69,66:40,33:-,NM_001373.1(DNAH14) c.9585+166G>T:-,0.12:-,NOT_FOUND 1 225521209 . G . . NT END=225524967;NT GT ./. 1 225521282 rs16844689 C T 68 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.8544,T/0.1456;Gene=DNAH14/NM_001373.1/1;CC=c.9801+74C>T;VC=Intron;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:3:0:0:18,22:490,695:0.00,68.06:0.00,3.29:0.00,64.76:0.00,1.00:0.00,0.92:0.00,1.00:60,60:10.1,42.5:0,0:0,0:96,96:54,55:18,30:-,NM_001373.1(DNAH14) c.9801+74C>T:-,0.16:-,NOT_FOUND 1 225525199 . G . . NT END=225525762;NT GT ./. 1 225525299 rs5781398 G GA 31 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.7508,GA/0.2492;DB;DBA=NA;PAF=G/0.7508,GA/0.2492;NP=142;Gene=DNAH14/NM_001373.1/1;CC=c.10032+107dupA;VC=Intron;DM=DNAH14/Dynein_heavy;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:17:0:10:0:7,10:234,309:0.00,30.67:0.00,0.00:0.00,30.67:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.4,5.4:0,0:0,0:50,111:76,39:30,21:-,NM_001373.1(DNAH14) c.10032+101_10032+102insA:-,0.21:-,NOT_FOUND 1 225525885 . G . . NT END=225528158;NT GT ./. 1 225528183 rs3856145 C A 237 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.4702,A/0.5298;PC=1.000;Gene=DNAH14/NM_001373.1/1;CC=c.10179C>A;ProtCh=p.D3393E;VC=Missense;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:A,C:69:54:0:0:67,2:2084,46:236.63,0.00:145.41,0.00:91.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,38.0:0,0:0,0:78,111:71,14:35,21:NM_001373.1(DNAH14) c.10179C>A (p.Asp3393Glu),NM_001373.1(DNAH14) c.10179C>A (p.Asp3393Glu):0.48,0.48:0.492554,0.492554 1 225528404 . G . . NT END=225533663;NT GT ./. 1 225533684 rs6667999 A G 204 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.471,G/0.529;PC=0.837;Gene=DNAH14/NM_001373.1/1;CC=c.10420A>G;ProtCh=p.K3474E;VC=Missense;DM=DNAH14/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G,T:63:54:0:0:62,1:1752,16:203.63,0.45:146.72,0.00:56.90,0.45:1.00,0.00:1.00,0.00:1.00,0.00:60,34:40.9,222.0:0,0:0,0:59,79:88,46:30,0:NM_001373.1(DNAH14) c.10420A>G (p.Lys3474Glu),NM_001373.1(DNAH14) c.10420A>G (p.Lys3474Glu):0.48,0.48:0.492335,0.492335 1 225533931 rs17522489 A G 142 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.8606,G/0.1394;Gene=DNAH14/NM_001373.1/1;CC=c.10667A>G;ProtCh=p.Q3556R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:99:48:0:0:50,1,47,1:1619,10,1491,21:0.00,-0.12,142.24,0.46:0.00,-0.09,46.52,-0.09:0.00,-0.03,95.73,0.54:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:8.0,181.0,39.7,43.0:0,0,0,0:0,0,0,0:89,125,101,13:59,26,50,138:43,0,30,0:-,NM_001373.1(DNAH14) c.10667A>G (p.Gln3556Arg):-,0.12:-,0.125274 1 225534083 . G . . NT END=225534157;NT GT ./. 1 225534219 rs7527925 T C 303 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.4708,C/0.5292;Gene=DNAH14/NM_001373.1/1;CC=c.10880T>C;ProtCh=p.V3627A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:82:57:0:0:80,2:2677,18:302.53,0.00:171.21,0.00:131.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,71.0:0,0:0,0:69,105:79,45:33,8:NM_001373.1(DNAH14) c.10880T>C (p.Val3627Ala),NM_001373.1(DNAH14) c.10880T>C (p.Val3627Ala):0.48,0.48:0.49276,0.49276 1 225534348 rs7535953 G A 219 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.4708,A/0.5292;Gene=DNAH14/NM_001373.1/1;CC=c.11009G>A;ProtCh=p.R3670K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:A:60:24:0:0:60:1909:219.46:60.43:159.04:1.00:1.00:1.00:60:41.8:0:0:97:49:27:NM_001373.1(DNAH14) c.11009G>A (p.Arg3670Lys),NM_001373.1(DNAH14) c.11009G>A (p.Arg3670Lys):0.48,0.48:NOT_FOUND,NOT_FOUND 1 225534357 . G . . NT END=225539348;NT GT ./. 1 225539586 . G . . NT END=225541504;NT GT ./. 1 225539665 rs3856150 T A 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2893,A/0.7107;Gene=DNAH14/NM_001373.1/1;CC=c.11254+80T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:1:0:0:27:842:97.07:3.88:93.19:1.00:1.00:1.00:60:37.9:0:0:125:24:18:NM_001373.1(DNAH14) c.11254+80T>A,NM_001373.1(DNAH14) c.11254+80T>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 225541372 rs6676935 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5204,G/0.4796;PC=0.003;Gene=DNAH14/NM_001373.1/1;CC=c.11255-133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:11:11:0:0:7,4:238,124:0.00,11.18:0.00,11.18:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:9.3,59.0:0,0:0,0:17,77:134,73:11,9:-,NM_001373.1(DNAH14) c.11255-133A>G:-,0.46:-,NOT_FOUND 1 225541591 . G . . NT END=225546197;NT GT ./. 1 225546172 rs9659299 C G 101 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.5491,G/0.4509;Gene=DNAH14/NM_001373.1/1;CC=c.11341-26C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:64:56:0:0:30,34:959,1038:0.00,100.74:0.00,84.06:0.00,16.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,35.6:0,0:0,0:51,49:97,101:27,28:-,NM_001373.1(DNAH14) c.11341-26C>G:-,0.44:-,0.351689 1 225546355 . G . . NT END=225548382;NT GT ./. 1 225548594 . G . . NT END=225552493;NT GT ./. 1 225552306 rs397750888 C CTT 29 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5176,CTT/0.4824;DB;DBA=NA;PAF=C/0.5176,CTT/0.4824;NP=87;Gene=DNAH14/NM_001373.1/1;CC=c.11709-187_11709-186dupTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,CTT:9:9:8:0:1,8:22,262:0.00,28.66:0.00,28.66:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:39.0,24.2:0,0:0,0:68,55:83,95:0,24:-,NM_001373.1(DNAH14) c.11709-188_11709-187insTT:-,0.47:-,NOT_FOUND 1 225552370 rs3933058 C T 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5176,T/0.4824;PC=0.004;Gene=DNAH14/NM_001373.1/1;CC=c.11709-124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:C,T:16:16:0:0:6,10:178,300:0.00,30.14:0.00,30.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.7,33.8:0,0:0,0:24,81:127,69:9,49:-,NM_001373.1(DNAH14) c.11709-124C>T:-,0.46:-,NOT_FOUND 1 225552597 . G . . NT END=225555506;NT GT ./. 1 225552624 rs10495239 G A 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.5182,A/0.4818;Gene=DNAH14/NM_001373.1/1;CC=c.11811+28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:14:0:0:20,9:646,310:66.34,0.00:25.80,0.00:40.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.8,0.8:0,0:0,0:100,110:49,41:26,13:NM_001373.1(DNAH14) c.11811+28G>A,-:0.46,-:0.390933,- 1 225552650 rs12563830 C T 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5186,T/0.4814;Gene=DNAH14/NM_001373.1/1;CC=c.11811+54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:8:0:0:8,18:271,533:0.00,54.79:0.00,15.57:0.00,39.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.9,64.9:0,0:0,0:130,99:21,51:13,31:-,NM_001373.1(DNAH14) c.11811+54C>T:-,0.46:-,NOT_FOUND 1 225552909 rs12754197 T C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.851,C/0.149;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.11811+313T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:5:0:0:0:4,1:110,35:11.82,0.00:0.00,0.00:11.82,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:47.8,13.0:0,0:0,0:115,98:31,52:28,0:NM_001373.1(DNAH14) c.11811+313T>C,-:0.16,-:NOT_FOUND,- 1 225554710 rs143205361 TACAC T 13 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=9;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.11812-763_11812-760delCACA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:TACAC,T:6:7:0:6:2,4:66,179:0.00,12.80:0.00,4.81:0.00,7.99:0.00,0.87:0.00,0.99:0.00,0.96:60,70:0.0,63.5:0,2:0,0:118,67:29,67:6,36:-,NM_001373.1(DNAH14) c.11812-796_11812-793delACAC:-,NOT_FOUND:-,NOT_FOUND 1 225555735 . G . . NT END=225562389;NT GT ./. 1 225562385 rs10915816 C T 108 nt VT=SNV;PN=C;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.2903,T/0.7097;Gene=DNAH14/NM_001373.1/1;CC=c.12040-5C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:85:73:0:0:1,46,38:13,1495,1154:-0.02,0.00,108.25:0.04,0.00,77.08:-0.06,0.00,31.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:38.0,8.0,45.9:0,0,0:0,0,0:141,48,46:7,101,92:0,27,32:-,NM_001373.1(DNAH14) c.12040-5C>T:-,0.78:-,0.72339 1 225562580 . G . . NT END=225564957;NT GT ./. 1 225565015 rs3856154 T C 139 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.4437,C/0.5563;PC=0.008;Gene=DNAH14/NM_001373.1/1;CC=c.12287T>C;ProtCh=p.L4096P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:89:68:0:0:44,45:1444,1510:138.61,0.00:82.89,0.00:55.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.4,10.0:0,0:0,0:52,57:95,84:33,29:NM_001373.1(DNAH14) c.12287T>C (p.Leu4096Pro),-:0.63,-:0.561761,- 1 225565073 rs3856155 C T 183 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.5082,T/0.4918;Gene=DNAH14/NM_001373.1/1;CC=c.12345C>T;ProtCh=p.G4115=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:72:0:0:51,57:1652,1885:0.00,183.32:0.00,87.36:0.00,95.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,54.4:0,0:0,0:73,62:68,82:31,29:-,NM_001373.1(DNAH14) c.12345C>T (p.(=)):-,0.57:-,0.490145 1 225565139 . G . . NT END=225567860;NT GT ./. 1 225568025 . G . . NT END=225569084;NT GT ./. 1 225569241 rs950210 T G 89 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.4716,G/0.5284;PC=0.136;Gene=DNAH14/NM_001373.1/1;CC=c.12731T>G;ProtCh=p.F4244C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:24:0:0:27,25:915,793:88.75,0.00:35.54,0.00:53.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,6.4:0,0:0,0:83,71:64,75:22,30:NM_001373.1(DNAH14) c.12731T>G (p.Phe4244Cys),-:0.6,-:0.531975,- 1 225569282 . G . . NT END=225576080;NT GT ./. 1 225576058 rs6679430 T C 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.474,C/0.526;PC=0.058;Gene=DNAH14/NM_001373.1/1;CC=c.12772-23T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:22:0:0:11,16:374,514:34.72,0.00:26.01,0.00:8.71,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.6,3.4:0,0:0,0:50,60:98,90:27,31:NM_001373.1(DNAH14) c.12772-23T>C,-:0.6,-:0.529785,- 1 225576194 . G . . NT END=225577435;NT GT ./. 1 225576311 rs10753405 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5094,G/0.4906;Gene=DNAH14/NM_001373.1/1;CC=c.12884+118A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:6:0:0:0:3,3:101,102:0.00,9.83:0.00,0.00:0.00,9.83:0.00,0.73:0.00,0.00:0.00,0.73:60,60:5.3,34.0:0,0:0,0:82,131:68,18:0,0:-,NM_001373.1(DNAH14) c.12884+118A>G:-,0.57:-,NOT_FOUND 1 225577576 . G . . NT END=225579992;NT GT ./. 1 225577648 rs12134158 C T 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.5092,T/0.4908;Gene=DNAH14/NM_001373.1/1;CC=c.13024+73C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:8:0:0:11,13:343,432:0.00,42.22:0.00,8.08:0.00,34.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,41.2:0,0:0,0:99,107:52,44:19,32:-,NM_001373.1(DNAH14) c.13024+73C>T:-,0.57:-,NOT_FOUND 1 225580154 . G . . NT END=225586221;NT GT ./. 1 225586369 . G . . NT END=225586755;NT GT ./. 1 225586737 . AT A 11 idl,rn VT=DEL;SST=Single;DP=46;NP=28;PC=0.001;Gene=DNAH14/NM_001373.1/1;CC=c.13333-5delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:AT,I,A:45:37:3:6:37,3,5:1175,80,188:0.00,4.81,11.43:0.00,5.15,6.32:0.00,-0.34,5.10:0.00,0.00,0.74:0.00,0.00,0.95:0.00,0.00,0.81:60,60,60:20.6,38.7,44.6:0,0,1:0,0,0:77,33,36:73,118,109:43,11,20:-,NM_001373.1(DNAH14) c.13333-18delT:-,NOT_FOUND:-,0.175397 1 225586972 . A . . NT END=225591004;NT GT ./. 1 225591166 . C . . NT END=225592105;NT GT ./. 1 225591893 rs10799305 G T 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.0003994,T/0.9996;NP=833;Gene=LBR/NM_002296.3/0;CC=c.1687+213C>A;VC=Intron;Gene=LBR/NM_194442.2/1;CC=c.1687+213C>A;VC=Intron;DM=LBR/ERG4_ERG24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:369:42.15:42.15:0.00:1.00:1.00:0.00:60:35.5:0:0:43:107:15:NM_194442.2(LBR) c.1687+213C>A,NM_194442.2(LBR) c.1687+213C>A:1,1:NOT_FOUND,NOT_FOUND 1 225592229 . C . . NT END=225592327;NT GT ./. 1 225592409 . C . . NT END=225594365;NT GT ./. 1 225594535 . C . . NT END=225597992;NT GT ./. 1 225597846 rs1011319 A G 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.2774,G/0.7226;Gene=LBR/NM_002296.3/0;CC=c.1314+147T>C;VC=Intron;Gene=LBR/NM_194442.2/1;CC=c.1314+147T>C;VC=Intron;DM=LBR/ERG4_ERG24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:25:0:0:12,14:395,399:0.00,38.70:0.00,32.00:0.00,6.70:0.00,1.00:0.00,1.00:0.00,0.96:60,60:9.8,32.6:0,0:0,0:36,71:113,80:27,39:-,NM_194442.2(LBR) c.1314+147T>C:-,0.79:-,NOT_FOUND 1 225598119 . C . . NT END=225599038;NT GT ./. 1 225598309 rs1538930 A C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4175,C/0.5825;Gene=LBR/NM_002296.3/0;CC=c.1189-191T>G;VC=Intron;Gene=LBR/NM_194442.2/1;CC=c.1189-191T>G;VC=Intron;DM=LBR/ERG4_ERG24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:0:0:0:9,6:263,196:0.00,18.09:0.00,0.00:0.00,18.09:0.00,0.96:0.00,0.00:0.00,0.96:60,60:6.9,64.3:0,0:0,0:81,133:69,17:25,7:-,NM_194442.2(LBR) c.1189-191T>G:-,0.65:-,NOT_FOUND 1 225599143 . C . . NT END=225600155;NT GT ./. 1 225600348 . C . . NT END=225602979;NT GT ./. 1 225600351 . TA T 21 idl,rn VT=DEL;SST=Single;DP=66;NP=15;PC=0.004;Gene=LBR/NM_002296.3/0;CC=c.893-5delT;VC=Intron;Gene=LBR/NM_194442.2/1;CC=c.893-5delT;VC=Intron;DM=LBR/ERG4_ERG24;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,TA,I,T:64:28:1:12:5,49,1,9:166,1385,32,346:11.72,0.00,1.54,21.31:3.56,0.00,1.78,15.02:8.16,0.00,-0.24,6.29:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.95:0.00,0.00,0.00,1.00:60,60,60,60:71.6,32.0,9.0,30.2:1,0,0,2:0,0,0,0:97,96,96,94:23,50,54,47:33,26,0,19:-,NM_194442.2(LBR) c.893-5delT:-,NOT_FOUND:-,NOT_FOUND 1 225603035 . C . . NT END=225605685;NT GT ./. 1 225603103 rs6702433 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2881,T/0.7119;Gene=LBR/NM_002296.3/0;CC=c.838-69G>A;VC=Intron;Gene=LBR/NM_194442.2/1;CC=c.838-69G>A;VC=Intron;DM=LBR/ERG4_ERG24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:6:0:0:7,6:198,190:0.00,17.97:0.00,2.67:0.00,15.30:0.00,0.97:0.00,0.97:0.00,1.00:60,60:17.0,49.3:0,0:0,0:98,113:50,36:25,24:-,NM_194442.2(LBR) c.838-69G>A:-,0.77:-,NOT_FOUND 1 225605883 . C . . NT END=225606964;NT GT ./. 1 225607144 rs2230419 C T 80 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.2877,T/0.7123;Gene=LBR/NM_002296.3/0;CC=c.461G>A;ProtCh=p.S154N;VC=Missense;Gene=LBR/NM_194442.2/1;CC=c.461G>A;ProtCh=p.S154N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:29:0:0:29,27:896,843:0.00,80.31:0.00,28.08:0.00,52.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,37.4:0,0:0,0:79,71:61,74:27,34:-,NM_194442.2(LBR) c.461G>A (p.Ser154Asn):-,0.78:-,0.703291 1 225607155 . C . . NT END=225607416;NT GT ./. 1 225607375 rs555386914 G GA 9 rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;PC=0.036;Gene=LBR/NM_002296.3/0;CC=c.450+41dupT;VC=Intron;Gene=LBR/NM_194442.2/1;CC=c.450+41dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,GA,D:29:22:4:1:24,4,1:822,118,34:0.00,8.73,2.05:0.00,3.20,2.15:0.00,5.53,-0.10:0.00,0.65,0.00:0.00,0.91,0.00:0.00,0.74,0.00:60,60,60:16.5,8.5,0.0:0,0,0:0,0,0:50,62,135:96,87,16:29,42,0:-,NM_194442.2(LBR) c.450+41_450+42insT:-,NOT_FOUND:-,NOT_FOUND 1 225607501 . C . . NT END=225609778;NT GT ./. 1 225609884 rs1056608 A G 139 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.3291,G/0.6709,T/.;PC=0.577;Gene=LBR/NM_002296.3/0;CC=c.261T>C;ProtCh=p.P87=;VC=Silent;Gene=LBR/NM_194442.2/1;CC=c.261T>C;ProtCh=p.P87=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:59:0:0:38,46:1301,1425:0.00,139.23:0.00,58.58:0.00,80.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,39.4:0,0:0,0:69,59:80,87:28,36:-,NM_194442.2(LBR) c.261T>C (p.(=)):-,0.74:-,0.659157 1 225609980 . C . . NT END=225611612;NT GT ./. 1 225611661 rs1056607 C T 73 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.3429,T/0.6571;Gene=LBR/NM_002296.3/0;CC=c.117G>A;ProtCh=p.V39=;VC=Silent;Gene=LBR/NM_194442.2/1;CC=c.117G>A;ProtCh=p.V39=;VC=Silent;DM=LBR/LBR_tudor;DM=LBR/LBR_tudor;DM=LBR/LBR_tudor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:35:0:0:25,25:876,757:0.00,72.54:0.00,35.59:0.00,36.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,32.8:0,0:0,0:72,80:74,71:32,37:-,NM_194442.2(LBR) c.117G>A (p.(=)):-,0.73:-,0.698985 1 225611778 . T . . NT END=225685476;NT GT ./. 1 225611845 rs1340867 C T 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.3982,T/0.6018;Gene=LBR/NM_002296.3/0;CC=c.-14-54G>A;VC=Intron;Gene=LBR/NM_194442.2/1;CC=c.-14-54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:5:0:0:11,8:292,244:0.00,22.64:0.00,4.18:0.00,18.45:0.00,0.99:0.00,0.93:0.00,1.00:60,60:29.3,36.4:0,0:0,0:103,131:47,20:15,15:-,NM_194442.2(LBR) c.-14-54G>A:-,0.67:-,NOT_FOUND 1 225630555 . AAC A 9 rn VT=DEL;SST=Single;DP=6;PC=0.003;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:AAC,C,A:5:4:0:4:1,1,3:32,14,117:0.00,1.03,8.62:0.00,-0.08,4.81:0.00,1.11,3.81:0.00,0.00,0.73:0.00,0.00,0.94:0.00,0.00,0.89:60,60,60:13.0,142.0,42.0:0,0,1:0,0,0:116,119,17:35,32,126:0,0,6:-,chr1 g.225630556_225630557delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 225685515 . C . . NT END=225686048;NT GT ./. 1 225685621 rs28364744 TAAG T 62 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=TAAG/0.364,T/0.636;DB;DBA=NA;PAF=TAAG/0.364,T/0.636;NP=1739;Gene=ENAH/NM_001008493.1/1;CC=c.1739-110_1739-108delCTT;VC=Intron;Gene=ENAH/NM_018212.4/0;CC=c.1676-110_1676-108delCTT;VC=Intron;DM=ENAH/VASP_tetra;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAG,T:32:6:0:19:13,19:418,626:0.00,62.28:0.00,2.23:0.00,60.04:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.7,0.7:0,0:0,0:115,110:36,41:33,16:-,NM_001008493.1(ENAH) c.1739-110_1739-108delCTT:-,0.69:-,NOT_FOUND 1 225686107 . C . . NT END=225688693;NT GT ./. 1 225688773 . C . . NT END=225692692;NT GT ./. 1 225692756 . C . . NT END=225695652;NT GT ./. 1 225695470 rs185012446 C G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9984,G/0.001597;NP=6;Gene=ENAH/NM_001008493.1/1;CC=c.1538+183G>C;VC=Intron;Gene=ENAH/NM_018212.4/0;CC=c.1538+183G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,G:6:6:0:0:3,3:92,103:0.00,9.93:0.00,9.93:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:3.3,69.7:0,0:0,0:32,39:118,112:3,25:-,NM_001008493.1(ENAH) c.1538+183G>C:-,0.0018:-,NOT_FOUND 1 225695720 . C . . NT END=225699512;NT GT ./. 1 225699562 . C . . NT END=225700358;NT GT ./. 1 225700417 . C . . NT END=225700572;NT GT ./. 1 225700719 . C . . NT END=225702297;NT GT ./. 1 225702603 . C . . NT END=225704897;NT GT ./. 1 225704756 rs150663666 TA T 13 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=18;Gene=ENAH/NM_001008493.1/1;CC=c.913+141delT;VC=Intron;Gene=ENAH/NM_018212.4/0;CC=c.913+141delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TA,I,T:14:14:2:5:7,2,5:196,54,141:0.00,4.20,12.91:0.00,4.20,12.91:0.00,0.00,0.00:0.00,0.00,0.90:0.00,0.00,0.90:0.00,0.00,0.00:60,60,70:65.0,30.0,17.4:0,0,0:0,0,0:60,40,20:91,100,131:24,18,19:-,NM_001008493.1(ENAH) c.913+141delT:-,NOT_FOUND:-,NOT_FOUND 1 225705693 . C . . NT END=225706899;NT GT ./. 1 225707268 . C . . NT END=225712300;NT GT ./. 1 225707271 rs567570796 G GA 52 idl,rn VT=INS;SST=Single;DP=155;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.039;Gene=ENAH/NM_001008493.1/1;CC=c.435-5dupT;VC=Intron;Gene=ENAH/NM_018212.4/0;CC=c.435-5dupT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GA,D:149:50:26:16:7,105,1,23,13:87,2987,11,762,472:1.77,0.00,-0.19,51.54,27.06:-0.52,0.00,-0.07,21.11,6.84:2.29,0.00,-0.13,30.43,20.23:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,70,60:52.0,24.2,102.0,50.0,25.2:0,0,0,3,3:0,0,0,0,0:61,113,113,92,102:89,35,37,55,47:9,30,0,30,17:-,NM_001008493.1(ENAH) c.435-5_435-4insT:-,NOT_FOUND:-,NOT_FOUND 1 225712365 rs58325205 TCATTGTTCCAA T 188 lc VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=758;PC=0.956;Gene=ENAH/NM_001008493.1/1;CC=c.435-5109_435-5099delTTGGAACAATG;VC=Intron;Gene=ENAH/NM_018212.4/0;CC=c.435-5109_435-5099delTTGGAACAATG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCATTGTTCCAA,T:63:42:0:54:9,54:314,1740:0.00,187.98:0.00,85.20:0.00,102.78:0.00,1.00:0.00,1.00:0.00,1.00:60,70:21.1,4.0:1,0:0,0:130,89:13,57:6,18:-,NM_001008493.1(ENAH) c.435-5109_435-5099delTTGGAACAATG:-,1:-,NOT_FOUND 1 225712372 . T . . NT END=225718255;NT GT ./. 1 225718341 . C . . NT END=225723208;NT GT ./. 1 225723266 . C . . NT END=225742607;NT GT ./. 1 225742786 . C . . NT END=225754950;NT GT ./. 1 225755117 . C . . NT END=225768952;NT GT ./. 1 225769007 . A . . NT END=225840019;NT GT ./. 1 225840136 . C . . NT END=225840387;NT GT ./. 1 225840393 . G . . NT END=225965642;NT GT ./. 1 225965715 . G . . NT END=225971001;NT GT ./. 1 225971071 . G . . NT END=225974563;NT GT ./. 1 225974531 rs4653433 A G 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.38,G/0.62;PC=0.002;Gene=SRP9/NM_001130440.1/1;CC=c.142-33A>G;VC=Intron;Gene=SRP9/NM_003133.5/0;CC=c.142-2411A>G;VC=Intron;DM=SRP9/SRP9-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:38:0:0:29,24:830,785:0.00,74.17:0.00,38.72:0.00,35.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.8,52.7:0,0:0,0:90,78:54,66:27,25:-,NM_003133.5(SRP9) c.142-2411A>G:-,0.58:-,NOT_FOUND 1 225974547 . CT C 12 idl,rn VT=DEL;SST=Single;DP=45;NP=5;PC=0.005;Gene=SRP9/NM_001130440.1/1;CC=c.142-3delT;VC=Intron;Gene=SRP9/NM_003133.5/0;CC=c.142-2381delT;VC=Intron;DM=SRP9/SRP9-21;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,CT,I,C:41:33:5:8:1,31,4,5:20,1017,161,260:0.58,0.00,9.86,11.94:0.70,0.00,4.91,3.39:-0.12,0.00,4.95,8.55:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.92:60,60,60,60:90.0,43.6,22.8,36.6:0,0,1,3:0,0,0,0:94,103,88,87:17,37,63,58:0,26,21,26:-,NM_003133.5(SRP9) c.142-2394delT:-,NOT_FOUND:-,NOT_FOUND 1 225974570 . t . . NT END=225976941;NT GT ./. 1 225977062 . A . . NT END=226016430;NT GT ./. 1 225983943 rs12735768 G A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6038,A/0.3962;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:A,G:15:12:0:0:5,10:147,227:12.97,0.00:10.50,0.00:2.46,0.00:0.89,0.00:0.98,0.00:0.86,0.00:60,60:45.2,62.1:0,0:0,0:27,72:124,69:19,48:chr1 g.225983942G>A (intergenic),-:0.37,-:NOT_FOUND,- 1 225990958 rs10158721 G C 151 nt VT=SNV;PN=G;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.4812,C/0.5188;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:97:60:0:0:1,47,48,1:23,1576,1474,10:0.63,151.45,0.00,-0.11:-0.12,82.14,0.00,-0.12:0.75,69.32,0.00,0.01:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:112.0,73.0,3.8,207.0:0,0,0,0:0,0,0,0:123,61,65,98:27,87,81,48:0,21,34,0:NM_001136018.2(EPHX1) c.-80-u6839G>C,-:0.41,-:NOT_FOUND,- 1 225990959 rs10158302 T C 141 nt VT=SNV;PN=G;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.4812,C/0.5188;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:98:61:0:0:48,50:1472,1524:140.61,0.00:74.24,0.00:66.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.6,7.8:0,0:0,0:65,68:84,78:22,32:NM_001136018.2(EPHX1) c.-80-u6838T>C,-:0.42,-:NOT_FOUND,- 1 225991093 rs4653684 A G 246 nt VT=SNV;PN=C;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=A/0.4814,G/0.5186;PC=0.977 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:130:83:0:0:53,77:1729,2476:0.00,246.19:0.00,116.67:0.00,129.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,55.4:0,0:0,0:73,75:78,75:24,24:-,NM_001136018.2(EPHX1) c.-80-u6704A>G:-,0.47:-,NOT_FOUND 1 225991176 rs4653685 T G 132 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.4812,G/0.5188;PC=0.898 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:73:21:0:0:42,31:1333,974:131.69,0.00:20.66,0.00:111.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.1,2.4:0,0:0,0:113,113:37,37:18,28:NM_001136018.2(EPHX1) c.-80-u6621T>G,-:0.47,-:NOT_FOUND,- 1 226016614 . G . . NT END=226019479;NT GT ./. 1 226019261 . GAAAA G 12 nt VT=DEL;SST=Single;DP=9;NP=15;Gene=EPHX1/NM_001136018.3/1;CC=c.184-216_184-213delAAAA;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.184-216_184-213delAAAA;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.184-216_184-213delAAAA;VC=Intron;DM=EPHX1/EHN;DM=EPHX1/EHN;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,GAAAA,G:9:9:0:5:1,4,4:28,122,125:2.12,0.00,11.98:2.12,0.00,11.98:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,60:61.0,12.5,13.0:0,0,0:0,0,0:3,6,66:148,145,84:0,4,26:-,NM_001136018.2(EPHX1) c.184-218_184-215delAAAA:-,NOT_FOUND:-,NOT_FOUND 1 226019265 . A G 12 idl;end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;Gene=EPHX1/NM_001136018.3/1;CC=c.184-215A>G;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.184-215A>G;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.184-215A>G;VC=Intron;DM=EPHX1/EHN;DM=EPHX1/EHN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:9:9:0:4:5,4:137,126:0.00,11.83:0.00,11.83:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:10.0,41.0:0,1:0,0:8,4:143,147:4,3:-,NM_001136018.2(EPHX1) c.184-215A>G:-,NOT_FOUND:-,NOT_FOUND 1 226019633 rs1051740 T C 163 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=95;DB;DBA=in-clinvar;PAF=T/0.6867,C/0.3133;PC=1.000;Gene=EPHX1/NM_001136018.3/1;CC=c.337T>C;ProtCh=p.Y113H;VC=Missense;Gene=EPHX1/NM_001291163.1/0;CC=c.337T>C;ProtCh=p.Y113H;VC=Missense;Gene=EPHX1/NM_000120.3/0;CC=c.337T>C;ProtCh=p.Y113H;VC=Missense;DM=EPHX1/EHN;DM=EPHX1/EHN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:95:50:0:0:1,52,42:10,1668,1312:-0.09,163.48,0.00:-0.09,40.28,0.00:-0.01,123.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.0,43.3,12.0:0,0,0:0,0,0:24,82,107:127,65,44:0,29,27:NM_001136018.2(EPHX1) c.337T>C (p.Tyr113His),-:0.32,-:0.257804,- 1 226019661 . G . . NT END=226026354;NT GT ./. 1 226019774 rs2260863 G C 102 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.2564,C/0.7436;PC=0.004;Gene=EPHX1/NM_001136018.3/1;CC=c.364+114G>C;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.364+114G>C;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.364+114G>C;VC=Intron;DM=EPHX1/EHN;DM=EPHX1/EHN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:0:0:0:28:883:101.58:0.00:101.58:1.00:0.00:1.00:60:56.5:0:0:126:20:16:NM_001136018.2(EPHX1) c.364+114G>C,NM_001136018.2(EPHX1) c.364+114G>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 226026241 rs4149223 C G 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.5028,G/0.4972;PC=0.001;Gene=EPHX1/NM_001136018.3/1;CC=c.365-114C>G;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.365-114C>G;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.365-114C>G;VC=Intron;DM=EPHX1/EHN;DM=EPHX1/EHN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:24:24:0:0:10,13,1:318,413,10:0.00,40.67,0.13:0.00,40.67,0.13:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:21.9,34.5,19.0:0,0,0:0,0,0:45,51,76:101,100,75:20,39,0:-,NM_001136018.2(EPHX1) c.365-114C>G:-,0.53:-,NOT_FOUND 1 226026406 rs2234922 A G 105 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=in-clinvar;PAF=A/0.7845,G/0.2155,T/.;PC=0.002;Gene=EPHX1/NM_001136018.3/1;CC=c.416A>G;ProtCh=p.H139R;VC=Missense;Gene=EPHX1/NM_001291163.1/0;CC=c.416A>G;ProtCh=p.H139R;VC=Missense;Gene=EPHX1/NM_000120.3/0;CC=c.416A>G;ProtCh=p.H139R;VC=Missense;DM=EPHX1/EHN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:95:68:0:0:57,38:1767,1148:0.00,105.07:0.00,48.73:0.00,56.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,40.8:0,0:0,0:49,47:99,92:28,28:-,NM_001136018.2(EPHX1) c.416A>G (p.His139Arg):-,0.18:-,0.249654 1 226026583 . G . . NT END=226026917;NT GT ./. 1 226026795 rs55668490 G A 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.9834,A/0.01657;Gene=EPHX1/NM_001136018.3/1;CC=c.593-123G>A;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.593-123G>A;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.593-123G>A;VC=Intron;DM=EPHX1/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:47:0:0:27,24:816,811:79.10,0.00:68.44,0.00:10.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,6.7:0,0:0,0:36,44:114,106:17,22:NM_001136018.2(EPHX1) c.593-123G>A,-:0.02,-:NOT_FOUND,- 1 226027048 . G . . NT END=226027529;NT GT ./. 1 226027067 rs35708670 G GGTGT 73 idl,rn VT=INS;SST=Single;DP=229;DB;DBA=NA;PAF=NA;NP=6;Gene=EPHX1/NM_001136018.3/1;CC=c.722+56_722+57insGTGT;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.722+56_722+57insGTGT;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.722+56_722+57insGTGT;VC=Intron;DM=EPHX1/Abhydrolase_1;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GGTGT,D:206:147:41:37:149,3,30,24:4799,35,1284,1123:0.00,-0.29,72.99,57.01:0.00,-0.35,32.49,24.13:0.00,0.06,40.49,32.88:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:14.7,114.7,17.4,14.4:2,0,11,12:0,0,0,0:100,47,64,47:36,93,80,103:26,8,22,23:-,NM_001136018.2(EPHX1) c.722+20_722+21insGTGT:-,NOT_FOUND:-,NOT_FOUND 1 226027201 rs4149225 A G 128 nt VT=SNV;PN=G;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.5847,G/0.4153;Gene=EPHX1/NM_001136018.3/1;CC=c.722+154A>G;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.722+154A>G;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.722+154A>G;VC=Intron;DM=EPHX1/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:79:4:0:0:38,41:1160,1321:0.00,127.82:0.00,9.96:0.00,117.87:0.00,1.00:0.00,0.95:0.00,1.00:60,60:8.6,38.8:0,0:0,0:113,119:37,32:29,19:-,NM_001136018.2(EPHX1) c.722+154A>G:-,0.41:-,NOT_FOUND 1 226027323 rs4149226 T C 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4277,C/0.5723;Gene=EPHX1/NM_001136018.3/1;CC=c.723-207T>C;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.723-207T>C;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.723-207T>C;VC=Intron;DM=EPHX1/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:14:0:0:22:698:80.24:53.08:27.17:1.00:1.00:1.00:60:48.5:0:0:75:76:27:NM_001136018.2(EPHX1) c.723-207T>C,NM_001136018.2(EPHX1) c.723-207T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 226027739 . G . . NT END=226030066;NT GT ./. 1 226030176 . G . . NT END=226032198;NT GT ./. 1 226032018 rs56301120 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.8736,A/0.1264;PC=0.012;Gene=EPHX1/NM_001136018.3/1;CC=c.1041-181G>A;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.1041-181G>A;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.1041-181G>A;VC=Intron;DM=EPHX1/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:8,16:268,474:23.99,0.00:23.99,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:37.9,5.3:0,0:0,0:25,42:125,109:14,24:NM_001136018.2(EPHX1) c.1041-181G>A,-:0.12,-:NOT_FOUND,- 1 226032154 . CTGCATG C 105 nt VT=DEL;SST=Single;DP=82;NP=29;Gene=EPHX1/NM_001136018.3/1;CC=c.1041-42_1041-37delCATGTG;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.1041-42_1041-37delCATGTG;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.1041-42_1041-37delCATGTG;VC=Intron;DM=EPHX1/Abhydrolase_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTGCATG,C:82:72:0:34:48,34:1565,1128:0.00,104.88:0.00,75.77:0.00,29.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,3.0:0,0:0,0:52,47:86,104:35,22:-,NM_001136018.2(EPHX1) c.1041-44_1041-39delTGCATG:-,NOT_FOUND:-,0.041454 1 226032163 rs568480799 G A 108 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.9972,A/0.002796;Gene=EPHX1/NM_001136018.3/1;CC=c.1041-36G>A;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.1041-36G>A;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.1041-36G>A;VC=Intron;DM=EPHX1/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:71:0:0:34,51:1167,1716:108.08,0.00:76.09,0.00:31.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:3.4,6.1:34,0:0,0:50,50:101,90:21,33:NM_001136018.2(EPHX1) c.1041-36G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 226032164 rs529278472 C G 114 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.9972,G/0.002796;Gene=EPHX1/NM_001136018.3/1;CC=c.1041-35C>G;VC=Intron;Gene=EPHX1/NM_001291163.1/0;CC=c.1041-35C>G;VC=Intron;Gene=EPHX1/NM_000120.3/0;CC=c.1041-35C>G;VC=Intron;DM=EPHX1/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:86:72:0:0:51,35:1732,1222:0.00,113.68:0.00,82.61:0.00,31.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,4.2:0,34:0,0:58,53:86,98:34,21:-,NM_001136018.2(EPHX1) c.1041-35C>G:-,NOT_FOUND:-,NOT_FOUND 1 226032325 . G . . NT END=226032846;NT GT ./. 1 226033049 . C . . NT END=226034740;NT GT ./. 1 226034915 . C . . NT END=226036192;NT GT ./. 1 226036256 . C . . NT END=226036597;NT GT ./. 1 226036309 rs360063 A G 187 nt VT=SNV;PN=C;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.3049,G/0.6951;Gene=TMEM63A/NM_014698.2/1;CC=c.2188-54T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:G:52:24:0:0:52:1628:187.35:57.73:129.61:1.00:1.00:1.00:60:40.6:0:0:110:39:19:NM_014698.2(TMEM63A) c.2188-54T>C,NM_014698.2(TMEM63A) c.2188-54T>C:0.65,0.65:0.658125,0.658125 1 226036714 . C . . NT END=226037612;NT GT ./. 1 226036844 rs184852 T C 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5803,C/0.4197;Gene=TMEM63A/NM_014698.2/1;CC=c.2072-131A>G;VC=Intron;DM=TMEM63A/RSN1_7TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:7,8:224,226:21.27,0.00:0.00,0.00:21.27,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:85.0,7.5:0,0:0,0:76,80:75,70:63,35:NM_014698.2(TMEM63A) c.2072-131A>G,-:0.42,-:NOT_FOUND,- 1 226037781 . C . . NT END=226040364;NT GT ./. 1 226040471 . C . . NT END=226041329;NT GT ./. 1 226041489 rs61753643 G A 119 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.9956,A/0.004393;PC=0.971;Gene=TMEM63A/NM_014698.2/1;CC=c.1638C>T;ProtCh=p.C546=;VC=Silent;DM=TMEM63A/RSN1_7TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:71:0:0:40,68:1304,2327:118.54,0.00:67.89,0.00:50.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,5.2:0,0:0,0:97,72:49,72:31,31:NM_014698.2(TMEM63A) c.1638C>T (p.(=)),-:0.01,-:0.021839,- 1 226041493 . C . . NT END=226043578;NT GT ./. 1 226043642 . C . . NT END=226044352;NT GT ./. 1 226044440 . C . . NT END=226044610;NT GT ./. 1 226044489 rs60955535 G GC 183 nt VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3432;Gene=TMEM63A/NM_014698.2/1;CC=c.1485-51dupG;VC=Intron;DM=TMEM63A/RSN1_7TM;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G,GC:61:35:53:0:1,7,53:32,159,1665:1.84,0.00,182.55:-0.02,0.00,78.82:1.86,0.00,103.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.0,67.6,6.5:0,2,0:0,0,0:0,137,84:151,6,66:0,8,34:-,NM_014698.2(TMEM63A) c.1485-51_1485-50insG:-,1:-,0.99976 1 226044718 . C . . NT END=226046895;NT GT ./. 1 226044766 rs9919303 G A 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.5621,A/0.4379;Gene=TMEM63A/NM_014698.2/1;CC=c.1378-49C>T;VC=Intron;DM=TMEM63A/RSN1_7TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:21:0:0:27,23:797,745:77.60,0.00:20.51,0.00:57.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,6.1:0,0:0,0:113,111:37,40:23,21:NM_014698.2(TMEM63A) c.1378-49C>T,-:0.39,-:0.349669,- 1 226046648 rs60588637 ATGTGTG A 9 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.112;Gene=TMEM63A/NM_014698.2/1;CC=c.1377+242_1377+247delCACACA;VC=Intron;DM=TMEM63A/RSN1_7TM;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:ATGTGTG,A:8:9:0:4:5,3:159,130:0.00,8.72:0.00,5.42:0.00,3.30:0.00,0.64:0.00,0.64:0.00,0.63:60,70:27.2,22.7:0,1:0,0:81,36:50,114:4,22:-,NM_014698.2(TMEM63A) c.1377+242_1377+247delCACACA:-,NOT_FOUND:-,NOT_FOUND 1 226047050 . C . . NT END=226048559;NT GT ./. 1 226048698 . C . . NT END=226049917;NT GT ./. 1 226049648 rs360080 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.03195,G/0.9681;Gene=TMEM63A/NM_014698.2/1;CC=c.1085+270T>C;VC=Intron;DM=TMEM63A/RSN1_7TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,C,G:8:8:0:0:3,1,4:88,12,118:0.00,0.64,11.60:0.00,0.64,11.60:0.00,0.00,0.00:0.00,0.00,0.87:0.00,0.00,0.87:0.00,0.00,0.00:60,60,60:15.0,159.0,29.5:0,0,0:0,0,0:47,15,60:104,134,91:14,0,34:-,NM_014698.2(TMEM63A) c.1085+270T>C:-,0.97:-,NOT_FOUND 1 226050052 . C . . NT END=226050154;NT GT ./. 1 226050279 . C . . NT END=226050470;NT GT ./. 1 226050552 . C . . NT END=226053596;NT GT ./. 1 226053668 . C . . NT END=226054273;NT GT ./. 1 226053805 rs7515156 G A 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6953,A/0.3047;PC=0.001;Gene=TMEM63A/NM_014698.2/1;CC=c.676-138C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:0:0:0:13,12:432,355:41.89,0.00:0.00,0.00:41.89,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.8,5.1:0,0:0,0:121,105:30,45:23,40:NM_014698.2(TMEM63A) c.676-138C>T,-:0.26,-:NOT_FOUND,- 1 226054333 rs45492299 G A 92 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.8321,A/0.1679;PC=1.000;Gene=TMEM63A/NM_014698.2/1;CC=c.616C>T;ProtCh=p.L206F;VC=Missense;DM=TMEM63A/RSN1_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:49:0:0:29,36:973,1149:91.70,0.00:38.65,0.00:53.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,7.5:0,0:0,0:52,70:87,66:19,31:NM_014698.2(TMEM63A) c.616C>T (p.Leu206Phe),-:0.16,-:0.127864,- 1 226054383 . C . . NT END=226054811;NT GT ./. 1 226054656 rs360084 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1412,A/0.8588;Gene=TMEM63A/NM_014698.2/1;CC=c.566+156C>T;VC=Intron;DM=TMEM63A/RSN1_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,G:10:8:0:0:4,6:138,161:12.80,0.00:13.23,0.00:-0.44,0.00:0.84,0.00:0.97,0.00:0.70,0.00:60,60:103.8,13.3:0,0:0,0:60,66:91,84:16,27:NM_014698.2(TMEM63A) c.566+156C>T,-:0.86,-:NOT_FOUND,- 1 226054681 rs360085 T A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.03235,A/0.9677;Gene=TMEM63A/NM_014698.2/1;CC=c.566+131A>T;VC=Intron;DM=TMEM63A/RSN1_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,T:11:10:0:0:5,6:171,210:16.19,0.00:16.46,0.00:-0.26,0.00:0.93,0.00:0.99,0.00:0.64,0.00:60,60:96.8,7.7:0,0:0,0:75,66:76,84:20,31:NM_014698.2(TMEM63A) c.566+131A>T,-:0.97,-:NOT_FOUND,- 1 226054714 rs2292563 G A 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5304,A/0.4696;Gene=TMEM63A/NM_014698.2/1;CC=c.566+98C>T;VC=Intron;DM=TMEM63A/RSN1_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:22:0:0:10,13:345,356:32.47,0.00:29.18,0.00:3.29,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:75.1,5.2:0,0:0,0:38,25:112,126:36,12:NM_014698.2(TMEM63A) c.566+98C>T,-:0.41,-:NOT_FOUND,- 1 226054864 . C . . NT END=226055587;NT GT ./. 1 226055595 rs2292564 G A 126 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.5699,A/0.4301;PC=0.877;Gene=TMEM63A/NM_014698.2/1;CC=c.507C>T;ProtCh=p.D169=;VC=Silent;DM=TMEM63A/RSN1_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:85:0:0:42,57:1349,1966:125.61,0.00:87.17,0.00:38.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,2.9:0,0:0,0:42,49:108,92:17,29:NM_014698.2(TMEM63A) c.507C>T (p.(=)),-:0.38,-:0.339997,- 1 226055731 . C . . NT END=226058775;NT GT ./. 1 226058814 . C . . NT END=226059686;NT GT ./. 1 226059754 . C . . NT END=226061987;NT GT ./. 1 226062068 . C . . NT END=226065094;NT GT ./. 1 226065281 . C . . NT END=226074426;NT GT ./. 1 226074791 . C . . NT END=226075098;NT GT ./. 1 226075339 . C . . NT END=226075485;NT GT ./. 1 226075733 . C . . NT END=226076516;NT GT ./. 1 226076767 . G . . NT END=226108154;NT GT ./. 1 226108321 . C . . NT END=226108907;NT GT ./. 1 226109072 . C . . NT END=226109251;NT GT ./. 1 226109345 . C . . NT END=226109557;NT GT ./. 1 226109780 . C . . NT END=226109903;NT GT ./. 1 226110084 . C . . NT END=226110700;NT GT ./. 1 226110772 . t . . NT END=226111154;NT GT ./. 1 226111318 . A . . NT END=226111336;NT GT ./. 1 226111388 . C . . NT END=226111400;NT GT ./. 1 226111472 . C . . NT END=226111743;NT GT ./. 1 226111811 . G . . NT END=226125140;NT GT ./. 1 226112074 rs61584476 GC G 24 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:4:0:7:7:203:23.62:12.92:10.70:1.00:1.00:1.00:60:27.9:0:0:40:107:28:NM_013328.2(PYCR2) c.-155-u110delG,NM_013328.2(PYCR2) c.-155-u110delG:0.98,0.98:NOT_FOUND,NOT_FOUND 1 226125505 . C . . NT END=226127060;NT GT ./. 1 226125543 rs60825997 G GA 439 nt VT=INS;SST=Single;DP=135;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3373;PC=0.103;Gene=LEFTY2/NM_001172425.1/0;CC=c.636-40dupT;VC=Intron;Gene=LEFTY2/NM_003240.3/1;CC=c.738-40dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:159:A,G,GA:135:49:125:0:4,6,125:104,189,3909:6.23,0.00,439.43:-0.02,0.00,105.25:6.25,0.00,334.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:79.2,35.3,8.8:3,1,0:0,0,0:87,135,89:63,3,60:36,12,32:NM_003240.3(LEFTY2) c.738-40_738-39insT,NM_003240.3(LEFTY2) c.738-40_738-39insT:1,1:0.995205,0.995205 1 226127301 . C . . NT END=226127455;NT GT ./. 1 226127703 . C . . NT END=226128590;NT GT ./. 1 226128841 . G . . NT END=226173002;NT GT ./. 1 226173225 . C . . NT END=226175596;NT GT ./. 1 226176090 . C . . NT END=226178943;NT GT ./. 1 226179065 . C . . NT END=226180098;NT GT ./. 1 226179909 rs1885254 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1424,G/0.8576;Gene=SDE2/NM_152608.3/1;CC=c.520+190T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:148:17.14:17.14:0.00:1.00:1.00:0.00:60:49.0:0:0:24:108:3:NM_152608.3(SDE2) c.520+190T>C,NM_152608.3(SDE2) c.520+190T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 226180269 . C . . NT END=226180591;NT GT ./. 1 226180554 rs552303547 T C 31 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=SDE2/NM_152608.3/1;CC=c.350+38A>G;VC=Intron;DM=SDE2/Telomere_Sde2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:13:0:0:10,7:313,219:31.03,0.00:24.08,0.00:6.95,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:44.8,1.7:0,0:0,0:45,23:106,128:31,16:NM_152608.3(SDE2) c.350+38A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 226180704 . C . . NT END=226182966;NT GT ./. 1 226180813 rs575377147 TTTC T 17 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=44;PC=0.003;Gene=SDE2/NM_152608.3/1;CC=c.239-113_239-111delGAA;VC=Intron;DM=SDE2/Telomere_Sde2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:TTTC,T:6:0:0:6:1,5:32,161:0.00,17.31:0.00,0.00:0.00,17.31:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,14.6:1,0:0,0:129,99:22,51:0,15:-,NM_152608.3(SDE2) c.239-113_239-111delGAA:-,NOT_FOUND:-,NOT_FOUND 1 226183085 . C . . NT END=226186893;NT GT ./. 1 226187095 . C . . NT END=226252052;NT GT ./. 1 226209714 rs56355822 T TTGTGTG 7 sb;idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=7;NP=9;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TTGTGTG:2:4:4:0:2:128:6.55:6.75:-0.20:0.94:0.94:0.94:60:33.0:2:0:35:114:6:chr1 g.226209714_226209715insTGTGTG (intergenic),chr1 g.226209714_226209715insTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 226252181 . G . . NT END=226253356;NT GT ./. 1 226252232 rs2036870 C T 132 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.01737,T/0.9826;Gene=H3F3A/NM_002107.4/1;CC=c.128+52C>T;VC=Intron;Gene=H3F3AP4/NR_002315.1/0;VC=NonCoding;DM=H3F3A/Histone GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T:38:10:0:0:38:1137:131.67:20.57:111.10:1.00:1.00:1.00:60:38.7:0:0:110:31:36:NM_002107.4(H3F3A) c.128+52C>T,NM_002107.4(H3F3A) c.128+52C>T:0.98,0.98:0.979084,0.979084 1 226253127 rs1511056 T G 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.02476,G/0.9752;Gene=H3F3A/NM_002107.4/1;CC=c.129-230T>G;VC=Intron;Gene=H3F3AP4/NR_002315.1/0;VC=NonCoding;DM=H3F3A/Histone GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:244:28.21:28.21:0.00:1.00:1.00:0.00:60:35.2:0:0:22:128:18:NM_002107.4(H3F3A) c.129-230T>G,NM_002107.4(H3F3A) c.129-230T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 226253316 rs1849032 G T 199 nt VT=SNV;PN=A;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.01737,T/0.9826;Gene=H3F3A/NM_002107.4/1;CC=c.129-41G>T;VC=Intron;Gene=H3F3AP4/NR_002315.1/0;VC=NonCoding;DM=H3F3A/Histone GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:T:55:51:0:0:55:1725:198.68:165.49:33.19:1.00:1.00:1.00:60:37.1:0:0:35:113:28:NM_002107.4(H3F3A) c.129-41G>T,NM_002107.4(H3F3A) c.129-41G>T:0.98,0.98:0.979317,0.979317 1 226253511 . G . . NT END=226259051;NT GT ./. 1 226259113 . C G 9 sb,lc VT=SNV;PN=G;NN=C;SST=Single;DP=60;NP=2;PC=1.000;Gene=H3F3A/NM_002107.4/1;CC=c.344C>G;ProtCh=p.A115G;VC=Missense;Gene=H3F3AP4/NR_002315.1/0;VC=NonCoding;DM=H3F3A/Histone GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:C,G:60:37:0:0:54,6:1691,147:0.00,9.26:0.00,10.72:0.00,-1.46:0.00,0.82:0.00,0.93:0.00,0.95:60,48:8.1,32.5:0,0:0,0:95,12:53,139:25,6:-,NM_002107.4(H3F3A) c.344C>G (p.Ala115Gly):-,NOT_FOUND:-,NOT_FOUND 1 226259181 . G . . NT END=226334310;NT GT ./. 1 226259212 rs397983063 CA C 16 sb;idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.985;Gene=H3F3A/NM_002107.4/1;CC=c.*49delA;VC=3UTR;Gene=H3F3AP4/NR_002315.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,CA,I,C:29:14:10:6:1,14,8,6:10,436,114,184:0.07,0.00,6.28,15.67:-0.06,0.00,5.13,-0.42:0.13,0.00,1.15,16.09:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.96:49,50,50,40:32.0,19.6,50.0,7.5:0,0,2,0:0,0,0,0:37,124,90,75:113,23,60,75:0,24,19,26:-,NM_002107.4(H3F3A) c.*33A[16]:-,NOT_FOUND:-,NOT_FOUND 1 226259338 . T TA 11 nt VT=INS;SST=Single;DP=16;NP=22;PC=1.000;Gene=H3F3A/NM_002107.4/1;CC=c.*158_*159insA;VC=3UTR;Gene=H3F3AP4/NR_002315.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:T,TA:16:1:4:0:12,4:369,134:0.00,11.41:0.00,-0.13:0.00,11.53:0.00,0.75:0.00,0.50:0.00,0.97:45,40:5.8,7.5:0,0:0,0:83,82:67,68:32,12:-,NM_002107.4(H3F3A) c.*158_*159insA:-,NOT_FOUND:-,NOT_FOUND 1 226313671 rs1877156 A G 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6538,G/0.3462 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:15:0:0:17:555:63.61:33.49:30.12:1.00:1.00:1.00:60:36.7:0:0:40:73:25:chr1 g.226313670A>G (intergenic),chr1 g.226313670A>G (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 226334523 . C . . NT END=226340035;NT GT ./. 1 226334578 rs1219666 G A 151 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=3466;Gene=ACBD3/NM_022735.3/1;CC=c.1376-56C>T;VC=Intron;DM=ACBD3/GOLD_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A:40:9:0:0:40:1316:150.62:19.73:130.89:1.00:1.00:1.00:60:40.0:0:0:107:40:28:NM_022735.3(ACBD3) c.1376-56C>T,NM_022735.3(ACBD3) c.1376-56C>T:1,1:NOT_FOUND,NOT_FOUND 1 226339764 rs10915949 C A 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.379,A/0.621;Gene=ACBD3/NM_022735.3/1;CC=c.1375+272G>T;VC=Intron;DM=ACBD3/GOLD_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:164:19.22:19.22:0.00:1.00:1.00:0.00:60:65.5:0:0:36:114:24:NM_022735.3(ACBD3) c.1375+272G>T,NM_022735.3(ACBD3) c.1375+272G>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 226340321 . C . . NT END=226342347;NT GT ./. 1 226342535 . C . . NT END=226346884;NT GT ./. 1 226346856 rs113921278 A G 85 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.995,G/0.004992;Gene=ACBD3/NM_022735.3/1;CC=c.903+29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:53:0:0:35,28:1068,908:0.00,85.38:0.00,60.64:0.00,24.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,35.0:0,0:0,0:34,47:110,103:21,31:-,NM_022735.3(ACBD3) c.903+29T>C:-,0.01:-,0.011072 1 226347060 . C . . NT END=226349231;NT GT ./. 1 226347210 rs200778806 GAAGA G 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GAAGA/0.9872,G/0.01278;NP=11;PC=0.986;Gene=ACBD3/NM_022735.3/1;CC=c.729-155_729-152delTCTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:GAAGA,G:7:0:0:4:3,4:103,125:0.00,12.33:0.00,0.00:0.00,12.33:0.00,0.90:0.00,0.00:0.00,0.90:60,60:5.7,3.0:0,0:0,0:119,85:31,64:24,8:-,NM_022735.3(ACBD3) c.729-155_729-152delTCTT:-,0.01:-,NOT_FOUND 1 226349391 . c . . NT END=226352489;NT GT ./. 1 226352498 rs2306120 T G 301 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4688,G/0.5312;PC=0.900;Gene=ACBD3/NM_022735.3/1;CC=c.561A>C;ProtCh=p.E187D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:79:60:0:0:79:2636:301.18:160.25:140.93:1.00:1.00:1.00:60:38.5:0:0:68:73:28:NM_022735.3(ACBD3) c.561A>C (p.Glu187Asp),NM_022735.3(ACBD3) c.561A>C (p.Glu187Asp):0.58,0.58:0.598954,0.598954 1 226352631 . C . . NT END=226353559;NT GT ./. 1 226352812 rs58322813 T C 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8794,C/0.1206;Gene=ACBD3/NM_022735.3/1;CC=c.429-182A>G;VC=Intron;DM=ACBD3/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:405:46.65:0.00:46.65:1.00:0.00:1.00:60:69.8:0:0:96:55:24:NM_022735.3(ACBD3) c.429-182A>G,NM_022735.3(ACBD3) c.429-182A>G:0.14,0.14:NOT_FOUND,NOT_FOUND 1 226352830 rs58416350 A C 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8792,C/0.1208;PC=0.003;Gene=ACBD3/NM_022735.3/1;CC=c.429-200T>G;VC=Intron;DM=ACBD3/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:0:0:0:12:403:46.02:0.00:46.02:1.00:0.00:1.00:60:70.3:0:0:104:46:13:NM_022735.3(ACBD3) c.429-200T>G,NM_022735.3(ACBD3) c.429-200T>G:0.14,0.14:NOT_FOUND,NOT_FOUND 1 226353349 rs1219664 G T 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=802;PC=0.048;Gene=ACBD3/NM_022735.3/1;CC=c.428+211C>A;VC=Intron;DM=ACBD3/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:277:31.98:31.98:0.00:1.00:1.00:0.00:60:32.1:0:0:37:113:17:NM_022735.3(ACBD3) c.428+211C>A,NM_022735.3(ACBD3) c.428+211C>A:1,1:NOT_FOUND,NOT_FOUND 1 226353702 . C . . NT END=226374090;NT GT ./. 1 226373801 rs1219675 A G 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=6;Gene=ACBD3/NM_022735.3/1;CC=c.286+290T>C;VC=Intron;DM=ACBD3/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:8:0:0:8:215:25.15:25.15:0.00:1.00:1.00:0.00:60:35.8:0:0:33:117:27:NM_022735.3(ACBD3) c.286+290T>C,NM_022735.3(ACBD3) c.286+290T>C:1,1:NOT_FOUND,NOT_FOUND 1 226374377 . C . . NT END=226411382;NT GT ./. 1 226374604 rs141330597 TC T 64 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=TC/0.8998,T/0.1002;NP=187;PC=0.004;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:TC,T:23:0:0:20:3,20:80,579:0.00,63.57:0.00,0.00:0.00,63.57:0.00,1.00:0.00,0.00:0.00,1.00:60,70:45.7,13.2:0,0:0,0:146,99:5,52:2,25:-,NM_022735.3(ACBD3) c.-47-u182delG:-,0.12:-,NOT_FOUND 1 226411135 rs10915961 G A 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3712,A/0.6288;PC=0.488 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:200:23.30:23.30:0.00:1.00:1.00:0.00:60:38.0:0:0:9:142:7:NM_031944.1(MIXL1) c.1-u248G>A,NM_031944.1(MIXL1) c.1-u248G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 226411317 rs10915962 C T 258 nt VT=SNV;PN=G;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.3818,T/0.6182 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:76:64:0:0:76:2220:257.82:171.34:86.49:1.00:1.00:1.00:60:40.5:0:0:40:109:24:NM_031944.1(MIXL1) c.1-u66C>T,NM_031944.1(MIXL1) c.1-u66C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 1 226411776 . G . . NT END=226413183;NT GT ./. 1 226413514 . G . . NT END=226420201;NT GT ./. 1 226420308 . C . . NT END=226420796;NT GT ./. 1 226420412 rs145896802 T C 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.9938,C/0.00619;Gene=LIN9/NM_001270409.1/0;CC=c.1467-105A>G;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.1572-105A>G;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.1368-105A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:1:0:0:11,8:323,268:31.88,0.00:-0.38,0.00:32.25,0.00:1.00,0.00:0.72,0.00:1.00,0.00:60,60:44.8,9.2:0,0:0,0:72,87:78,63:45,31:NM_173083.3(LIN9) c.1572-105A>G,-:0.01,-:NOT_FOUND,- 1 226420536 rs2377027 C G 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4523,G/0.5477;Gene=LIN9/NM_001270409.1/0;CC=c.1467-229G>C;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.1572-229G>C;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.1368-229G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:3:0:0:8:270:30.82:11.93:18.88:1.00:1.00:1.00:60:47.8:0:0:105:45:39:NM_173083.3(LIN9) c.1572-229G>C,NM_173083.3(LIN9) c.1572-229G>C:0.53,0.53:NOT_FOUND,NOT_FOUND 1 226420895 . C . . NT END=226421044;NT GT ./. 1 226421225 . C . . NT END=226426671;NT GT ./. 1 226426798 . C . . NT END=226438539;NT GT ./. 1 226438449 rs6678137 T C 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.1414,C/0.8586;Gene=LIN9/NM_001270409.1/0;CC=c.1062+91A>G;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.1167+91A>G;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.963+91A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:351:40.32:40.32:0.00:1.00:1.00:0.00:60:33.7:0:0:40:111:10:NM_173083.3(LIN9) c.1167+91A>G,NM_173083.3(LIN9) c.1167+91A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 226438621 . C . . NT END=226453233;NT GT ./. 1 226453336 . C . . NT END=226453913;NT GT ./. 1 226453581 rs10799343 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3688,C/0.6312;Gene=LIN9/NM_001270409.1/0;CC=c.880-246A>G;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.985-246A>G;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.781-246A>G;VC=Intron;DM=LIN9/DIRP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:C:6:4:0:0:6:145:17.22:10.72:6.50:1.00:1.00:1.00:60:85.3:0:0:32:117:28:NM_173083.3(LIN9) c.985-246A>G,NM_173083.3(LIN9) c.985-246A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 1 226453618 rs4418563 T C 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3379,C/0.6621;PC=0.002;Gene=LIN9/NM_001270409.1/0;CC=c.880-283A>G;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.985-283A>G;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.781-283A>G;VC=Intron;DM=LIN9/DIRP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:152:17.58:12.21:5.37:1.00:1.00:1.00:60:96.4:0:0:64:84:22:NM_173083.3(LIN9) c.985-283A>G,NM_173083.3(LIN9) c.985-283A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 1 226454034 . C . . NT END=226455657;NT GT ./. 1 226455792 . C . . NT END=226465475;NT GT ./. 1 226465634 . C . . NT END=226474033;NT GT ./. 1 226474132 rs10799347 G A 264 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.2925,A/0.7075;PC=1.000;Gene=LIN9/NM_001270409.1/0;CC=c.369C>T;ProtCh=p.F123=;VC=Silent;Gene=LIN9/NM_173083.3/0;CC=c.474C>T;ProtCh=p.F158=;VC=Silent;Gene=LIN9/NM_001270410.1/1;CC=c.270C>T;ProtCh=p.F90=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:72:43:0:0:72:2303:264.48:113.55:150.93:1.00:1.00:1.00:60:37.1:0:0:94:57:32:NM_173083.3(LIN9) c.474C>T (p.(=)),NM_173083.3(LIN9) c.474C>T (p.(=)):0.72,0.72:0.704615,0.704615 1 226474160 . C . . NT END=226475364;NT GT ./. 1 226475499 . C . . NT END=226483542;NT GT ./. 1 226475682 rs368027452 C CT 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=11;PC=0.233;Gene=LIN9/NM_001270409.1/0;CC=c.208-185_208-184insA;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.313-185_313-184insA;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.109-185_109-184insA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,CT:7:0:4:0:3,4:103,130:0.00,12.83:0.00,0.00:0.00,12.83:0.00,0.90:0.00,0.00:0.00,0.90:60,60:32.0,10.5:0,0:0,0:133,81:18,68:1,24:-,NM_173083.3(LIN9) c.313-185_313-184insA:-,NOT_FOUND:-,NOT_FOUND 1 226477536 rs201564645 G GGA 19 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=37;PC=0.184;Gene=LIN9/NM_001270409.1/0;CC=c.208-2039_208-2038insTC;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.313-2039_313-2038insTC;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.109-2039_109-2038insTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GGA:5:5:5:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:29.4:0:0:46:100:23:NM_173083.3(LIN9) c.313-2039_313-2038insTC,NM_173083.3(LIN9) c.313-2039_313-2038insTC:0.29,0.29:NOT_FOUND,NOT_FOUND 1 226477622 rs6675829 G A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1607,A/0.8393;PC=0.053;Gene=LIN9/NM_001270409.1/0;CC=c.208-2124C>T;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.313-2124C>T;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.109-2124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:160:18.38:9.49:8.89:1.00:1.00:1.00:60:45.2:0:0:108:43:30:NM_173083.3(LIN9) c.313-2124C>T,NM_173083.3(LIN9) c.313-2124C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 1 226483648 . C . . NT END=226485419;NT GT ./. 1 226485327 rs397743868 A AT 33 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3674,AT/0.6326;DB;DBA=NA;PAF=A/0.3674,AT/0.6326,ATT/.;DB;DBA=NA;PAF=A/0.3674,AT/0.6326;NP=2415;PC=0.054;Gene=LIN9/NM_001270409.1/0;CC=c.207+92dupA;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.207+92dupA;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.3+92dupA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:AT:9:9:9:0:9:289:33.19:33.19:0.00:1.00:1.00:0.00:70:2.6:0:0:27:124:5:NM_173083.3(LIN9) c.207+92_207+93insA,NM_173083.3(LIN9) c.207+92_207+93insA:0.66,0.66:NOT_FOUND,NOT_FOUND 1 226485515 . C . . NT END=226488873;NT GT ./. 1 226488826 rs11577454 A G 94 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7622,G/0.2378;Gene=LIN9/NM_001270409.1/0;CC=c.112+48T>C;VC=Intron;Gene=LIN9/NM_173083.3/0;CC=c.112+48T>C;VC=Intron;Gene=LIN9/NM_001270410.1/1;CC=c.-93+48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:20:0:0:25:825:94.42:57.24:37.18:1.00:1.00:1.00:60:34.6:0:0:40:111:24:NM_173083.3(LIN9) c.112+48T>C,NM_173083.3(LIN9) c.112+48T>C:0.25,0.25:0.226888,0.226888 1 226488907 . C . . NT END=226496809;NT GT ./. 1 226497205 . G . . NT END=226497326;NT GT ./. 1 226497577 . T . . NT END=226549160;NT GT ./. 1 226549243 . C . . NT END=226549669;NT GT ./. 1 226549785 . C . . NT END=226550799;NT GT ./. 1 226549885 rs368063214 CT C 11 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=PARP1/NM_001618.3/1;CC=c.2849-102delA;VC=Intron;DM=PARP1/PARP;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CT,G,I,C:15:0:2:4:8,1,2,4:247,10,63,122:0.00,0.20,5.01,10.73:0.00,0.00,0.00,0.00:0.00,0.20,5.01,10.73:0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.76:60,60,60,60:13.5,217.0,12.5,16.8:0,0,0,0:0,0,0,0:120,97,59,101:31,54,91,45:24,0,57,17:-,NM_001618.3(PARP1) c.2849-102delA:-,NOT_FOUND:-,NOT_FOUND 1 226550862 . C . . NT END=226551643;NT GT ./. 1 226550924 rs747657 G C 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.5134,C/0.4866;Gene=PARP1/NM_001618.3/1;CC=c.2787-63C>G;VC=Intron;DM=PARP1/PARP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:29:14:0:0:12,17:414,590:38.58,0.00:8.97,0.00:29.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,2.6:0,0:0,0:105,115:44,35:17,18:NM_001618.3(PARP1) c.2787-63C>G,-:0.46,-:0.603373,- 1 226551460 rs752309 T C 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2516,C/0.7484;Gene=PARP1/NM_001618.3/1;CC=c.2786+184A>G;VC=Intron;DM=PARP1/PARP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,T:10:10:0:0:4,6:127,208:11.69,0.00:11.69,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:57.2,6.7:0,0:0,0:47,55:102,96:32,21:NM_001618.3(PARP1) c.2786+184A>G,-:0.72,-:NOT_FOUND,- 1 226551529 rs752307 C G 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.2177,G/0.7823;Gene=PARP1/NM_001618.3/1;CC=c.2786+115G>C;VC=Intron;DM=PARP1/PARP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:27:0:0:16,11:555,334:0.00,30.72:0.00,29.09:0.00,1.63:0.00,1.00:0.00,1.00:0.00,0.71:60,60:4.2,53.4:0,0:0,0:56,39:93,95:33,19:-,NM_001618.3(PARP1) c.2786+115G>C:-,0.74:-,NOT_FOUND 1 226551772 . C . . NT END=226552702;NT GT ./. 1 226552856 . C . . NT END=226553654;NT GT ./. 1 226553494 rs397817981 C CA 8 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2163,CA/0.7837;DB;DBA=NA;PAF=C/0.9509,A/0.04912;DB;DBA=NA;PAF=C/0.2163,CA/0.7837;NP=3;PC=0.022;Gene=PARP1/NM_001618.3/1;CC=c.2505+160_2505+161insT;VC=Intron;DM=PARP1/PARP;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,CA:12:13:4:0:9,3:288,128:0.00,8.30:0.00,8.30:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,60:22.4,106.0:0,1:0,0:51,30:99,121:24,7:-,NM_001618.3(PARP1) c.2505+160_2505+161insT:-,NOT_FOUND:-,NOT_FOUND 1 226553754 . C . . NT END=226555180;NT GT ./. 1 226555302 rs1136410 A G 102 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.8031,G/0.1969;PC=1.000;Gene=PARP1/NM_001618.3/1;CC=c.2285T>C;ProtCh=p.V762A;VC=Missense;DM=PARP1/PARP_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:41:0:0:48,33:1518,1102:0.00,102.14:0.00,30.26:0.00,71.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,41.2:0,0:0,0:86,91:59,58:32,27:-,NM_001618.3(PARP1) c.2285T>C (p.Val762Ala):-,0.24:-,0.123328 1 226555310 . C . . NT END=226555899;NT GT ./. 1 226556023 . C . . NT END=226558134;NT GT ./. 1 226556094 rs1805400 T C 225 nt VT=SNV;PN=T;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.01358,C/0.9864;Gene=PARP1/NM_001618.3/1;CC=c.2155-72A>G;VC=Intron;DM=PARP1/PARP_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C:58:31:0:0:58:1977:225.32:74.66:150.65:1.00:1.00:1.00:60:41.1:0:0:97:50:20:NM_001618.3(PARP1) c.2155-72A>G,NM_001618.3(PARP1) c.2155-72A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 226558219 . C . . NT END=226561926;NT GT ./. 1 226561761 rs2377312 G C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.259,C/0.741;Gene=PARP1/NM_001618.3/1;CC=c.2070+166C>G;VC=Intron;DM=PARP1/PARP_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:16:0:0:8,8:265,251:25.52,0.00:25.52,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.1,1.1:0,0:0,0:47,72:102,78:14,32:NM_001618.3(PARP1) c.2070+166C>G,-:0.71,-:NOT_FOUND,- 1 226562056 . C . . NT END=226564808;NT GT ./. 1 226564691 rs3219090 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5156,C/0.4844;PC=0.002;Gene=PARP1/NM_001618.3/1;CC=c.1941+118A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:9:9:0:0:4,5:102,163:9.41,0.00:9.41,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:44.2,2.0:0,0:0,0:23,100:127,51:10,38:NM_001618.3(PARP1) c.1941+118A>G,-:0.46,-:NOT_FOUND,- 1 226565005 . C . . NT END=226566842;NT GT ./. 1 226566726 rs907190 A C 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.2588,C/0.7412;Gene=PARP1/NM_001618.3/1;CC=c.1745+117T>G;VC=Intron;DM=PARP1/WGR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:31:0:0:15,16:421,516:0.00,49.97:0.00,48.28:0.00,1.69:0.00,1.00:0.00,1.00:0.00,0.81:60,60:1.5,38.5:0,0:0,0:43,48:108,102:27,28:-,NM_001618.3(PARP1) c.1745+117T>G:-,0.71:-,NOT_FOUND 1 226566976 . C . . NT END=226567273;NT GT ./. 1 226567343 . C . . NT END=226567622;NT GT ./. 1 226567866 . C . . NT END=226568768;NT GT ./. 1 226568910 . C . . NT END=226570736;NT GT ./. 1 226570840 rs1805415 T C 162 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.2107,C/0.7893,G/.;PC=0.728;Gene=PARP1/NM_001618.3/1;CC=c.1056A>G;ProtCh=p.K352=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:91:54:0:0:49,42:1660,1328:162.08,0.00:62.22,0.00:99.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,13.9:0,0:0,0:98,72:48,78:31,38:NM_001618.3(PARP1) c.1056A>G (p.(=)),-:0.74,-:0.860065,- 1 226570885 . C . . NT END=226573204;NT GT ./. 1 226573364 rs1805414 A G 154 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.4834,G/0.5166;Gene=PARP1/NM_001618.3/1;CC=c.852T>C;ProtCh=p.A284=;VC=Silent;DM=PARP1/PADR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:108:60:0:0:57,51:1884,1622:0.00,154.12:0.00,61.00:0.00,93.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,36.7:0,0:0,0:75,75:73,56:35,30:-,NM_001618.3(PARP1) c.852T>C (p.(=)):-,0.54:-,0.407735 1 226573382 . C . . NT END=226574026;NT GT ./. 1 226574144 . C . . NT END=226576356;NT GT ./. 1 226576270 rs2255403 A G 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.7478,G/0.2522;PC=0.068;Gene=PARP1/NM_001618.3/1;CC=c.717+87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:21:0:0:11,11:320,334:0.00,32.00:0.00,28.23:0.00,3.78:0.00,1.00:0.00,1.00:0.00,0.67:60,60:2.8,34.1:0,0:0,0:43,50:108,101:31,20:-,NM_001618.3(PARP1) c.717+87T>C:-,0.29:-,NOT_FOUND 1 226576457 . C . . NT END=226578110;NT GT ./. 1 226578047 rs1805411 G T 55 nt VT=SNV;PN=G;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.7897,T/0.2103;Gene=PARP1/NM_001618.3/1;CC=c.617+64C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:43:42:0:0:1,22,20:11,629,580:0.03,0.00,54.91:0.06,0.00,46.86:-0.03,0.00,8.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:55.0,42.3,67.0:0,0,0:0,0,0:24,49,43:127,101,107:0,27,27:-,NM_001618.3(PARP1) c.617+64C>A:-,0.26:-,NOT_FOUND 1 226578099 rs1805403 T C 262 nt VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.1424,C/0.8576;Gene=PARP1/NM_001618.3/1;CC=c.617+12A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:72:66:0:0:71,1:2287,5:261.92,0.03:209.64,0.03:52.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,113.0:0,0:0,0:55,56:96,95:33,0:NM_001618.3(PARP1) c.617+12A>G,NM_001618.3(PARP1) c.617+12A>G:0.87,0.87:0.823312,0.823312 1 226578326 . C . . NT END=226579899;NT GT ./. 1 226580016 . C . . NT END=226589914;NT GT ./. 1 226589709 rs2666428 C T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4585,A/.,T/0.5415;Gene=PARP1/NM_001618.3/1;CC=c.286+206G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:15:0:0:7,8:211,215:0.00,20.81:0.00,20.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:40.1,33.5:0,0:0,0:39,17:111,133:17,16:-,NM_001618.3(PARP1) c.286+206G>A:-,0.56:-,NOT_FOUND 1 226589958 rs1805404 G A 222 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.7817,A/0.2183;PC=1.000;Gene=PARP1/NM_001618.3/1;CC=c.243C>T;ProtCh=p.D81=;VC=Silent;DM=PARP1/zf-PARP;DM=PARP1/zf-PARP;DM=PARP1/zf-PARP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:88:0:0:70,49:2237,1561:222.03,0.00:127.55,0.00:94.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,9.7:0,0:0,0:63,79:74,65:31,34:NM_001618.3(PARP1) c.243C>T (p.(=)),-:0.26,-:0.147701,- 1 226590081 . C . . NT END=226595510;NT GT ./. 1 226595377 rs892348 C G 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7812,G/0.2188;Gene=PARP1/NM_001618.3/1;CC=c.120+134G>C;VC=Intron;DM=PARP1/zf-PARP;DM=PARP1/zf-PARP;DM=PARP1/zf-PARP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:33:0:0:19,14:630,436:0.00,40.48:0.00,36.92:0.00,3.55:0.00,1.00:0.00,1.00:0.00,0.72:60,60:16.9,57.2:0,0:0,0:41,38:110,113:28,30:-,NM_001618.3(PARP1) c.120+134G>C:-,0.28:-,NOT_FOUND 1 226595403 rs3046771 A AGGGCCC 30 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.4619,AGGGCCC/0.5381,AGGGCCCGGGCCC/.;DB;DBA=NA;PAF=A/0.4619,AGGGCCC/0.5381;NP=1;NP=10;Gene=PARP1/NM_001618.3/1;CC=c.120+102_120+107dupGGGCCC;VC=Intron;DM=PARP1/zf-PARP;DM=PARP1/zf-PARP;DM=PARP1/zf-PARP;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AGGGCCC:35:34:11:0:23,1,11:738,8,337:0.00,-0.14,29.65:0.00,-0.12,26.72:0.00,-0.02,2.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.78:60,60,60:25.1,50.0,50.2:1,0,0:0,0,0:46,140,51:105,11,100:23,0,17:-,NM_001618.3(PARP1) c.120+107_120+108insGGGCCC:-,0.51:-,NOT_FOUND 1 226595631 . C . . NT END=226736605;NT GT ./. 1 226595647 rs907187 C G 182 nt VT=SNV;PN=G;NN=C;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.8009,G/0.1991;PC=0.004;Gene=PARP1/NM_001618.3/1;CC=c.-17G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:140:91:0:0:79,61:2597,1950:0.00,182.42:0.00,76.59:0.00,105.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,39.4:0,0:0,0:79,65:68,81:32,30:-,NM_001618.3(PARP1) c.-17G>C:-,0.25:-,0.119095 1 226596686 rs2793379 T A 22 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7913,A/0.2087 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,T:7:7:0:0:6,1:200,36:21.61,0.00:22.04,0.00:-0.42,0.00:1.00,0.00:1.00,0.00:0.90,0.00:70,60:64.8,0.0:0,0:0,0:66,58:66,47:26,0:NM_001618.3(PARP1) c.-171-u885A>T,-:0.26,-:NOT_FOUND,- 1 226649382 rs58367497 TTGTG T 10 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=20;PC=0.053;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:TTGTG,T:4:5:0:5:1,3:11,156:0.00,10.24:0.00,6.66:0.00,3.58:0.00,0.73:0.00,0.96:0.00,0.96:60,60:0.0,39.0:0,2:0,0:99,69:42,82:0,22:-,chr1 g.226649383_226649386delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 226736808 . G . . NT END=226784502;NT GT ./. 1 226784683 . G . . NT END=226788366;NT GT ./. 1 226788376 . G . . NT END=226789706;NT GT ./. 1 226789742 . G . . NT END=226822523;NT GT ./. 1 226822588 . C . . NT END=226825379;NT GT ./. 1 226824453 rs3831354 CTG G,C 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=27;PC=0.005;DM=ITPKB/IPK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:G,C:4:3:0:3:1,3:13,100:1.18,11.06:0.00,7.35:1.18,3.70:0.00,0.85:0.00,0.99:0.00,0.99:60,70:183.0,0.0:0,0:0,0:81,14:70,137:0,2:NM_002221.3(ITPKB) c.2625+926_2625+927delAG,NM_002221.3(ITPKB) c.2625+925_2625+926delCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 226825452 . C . . NT END=226827257;NT GT ./. 1 226827360 . C . . NT END=226829621;NT GT ./. 1 226829827 . C . . NT END=226834867;NT GT ./. 1 226835082 . C . . NT END=226836372;NT GT ./. 1 226836163 rs397705985 T TG 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.02057,TG/0.9794,TGG/.;DB;DBA=NA;PAF=T/0.02057,TG/0.9794;NP=1232;Gene=ITPKB/NM_002221.3/1;CC=c.2032+209dupC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:T,TG:4:4:2:0:2,2:61,68:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:17.5,0.0:0,0:0,0:64,71:87,78:34,12:-,NM_002221.3(ITPKB) c.2032+209_2032+210insC:-,0.97:-,NOT_FOUND 1 226836473 . C . . NT END=226894890;NT GT ./. 1 226894906 . t . . NT END=226895176;NT GT ./. 1 226895617 . C . . NT END=226923227;NT GT ./. 1 226923505 rs708776 G T 220 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.02017,A/.,T/0.9798;Gene=ITPKB/NM_002221.3/1;CC=c.1655C>A;ProtCh=p.P552Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:117:75:0:0:1,1,48,67:9,8,1426,2221:-0.12,-0.13,0.00,220.26:-0.10,-0.10,0.00,109.91:-0.02,-0.04,0.00,110.35:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:153.0,8.0,13.8,41.4:0,0,0,0:0,0,0,0:101,4,52,72:49,146,95,74:0,0,37,42:-,NM_002221.3(ITPKB) c.1655C>A (p.Pro552Gln):-,0.97:-,0.958788 1 226925312 . G . . NT END=227069608;NT GT ./. 1 227069267 rs1295638 A G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5567,G/0.4433;Gene=PSEN2/NM_000447.2/1;CC=c.-20-322A>G;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.-20-322A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:123:14.20:14.20:0.00:1.00:1.00:0.00:60:73.8:0:0:41:110:19:NM_000447.2(PSEN2) c.-20-322A>G,NM_000447.2(PSEN2) c.-20-322A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 227069677 rs11405 T C 370 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.2644,C/0.7356;PC=0.001;Gene=PSEN2/NM_000447.2/1;CC=c.69T>C;ProtCh=p.A23=;VC=Silent;Gene=PSEN2/NM_012486.2/0;CC=c.69T>C;ProtCh=p.A23=;VC=Silent;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:105:72:0:0:105:3198:369.75:194.49:175.26:1.00:1.00:1.00:60:58.3:0:0:71:77:39:NM_000447.2(PSEN2) c.69T>C (p.(=)),NM_000447.2(PSEN2) c.69T>C (p.(=)):0.74,0.74:0.793095,0.793095 1 227069737 rs6759 C T 332 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.5567,T/0.4433;Gene=PSEN2/NM_000447.2/1;CC=c.129C>T;ProtCh=p.N43=;VC=Silent;Gene=PSEN2/NM_012486.2/0;CC=c.129C>T;ProtCh=p.N43=;VC=Silent;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:91:59:0:0:91:2887:331.95:154.32:177.63:1.00:1.00:1.00:60:58.4:0:0:90:57:31:NM_000447.2(PSEN2) c.129C>T (p.(=)),NM_000447.2(PSEN2) c.129C>T (p.(=)):0.48,0.48:0.489542,0.489542 1 227069750 . G . . NT END=227071405;NT GT ./. 1 227071364 rs1295643 G A 178 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.5567,A/0.4433,C/.;Gene=PSEN2/NM_000447.2/1;CC=c.142-42G>A;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.142-42G>A;VC=Intron;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A:49:40:0:0:49:1551:178.38:122.02:56.35:1.00:1.00:1.00:60:69.4:0:0:48:101:25:NM_000447.2(PSEN2) c.142-42G>A,NM_000447.2(PSEN2) c.142-42G>A:0.48,0.48:0.488462,0.488462 1 227071377 rs1295644 T C 213 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.3756,C/0.6244,G/.;Gene=PSEN2/NM_000447.2/1;CC=c.142-29T>C;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.142-29T>C;VC=Intron;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C:61:52:0:0:61:1840:212.90:148.50:64.40:1.00:1.00:1.00:60:67.7:0:0:49:97:27:NM_000447.2(PSEN2) c.142-29T>C,NM_000447.2(PSEN2) c.142-29T>C:0.65,0.65:0.711672,0.711672 1 227071525 rs1046240 C T 335 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.5567,T/0.4433;PC=0.983;Gene=PSEN2/NM_000447.2/1;CC=c.261C>T;ProtCh=p.H87=;VC=Silent;Gene=PSEN2/NM_012486.2/0;CC=c.261C>T;ProtCh=p.H87=;VC=Silent;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:92:63:0:0:92:2917:335.44:162.17:173.27:1.00:1.00:1.00:60:40.9:0:0:83:63:29:NM_000447.2(PSEN2) c.261C>T (p.(=)),NM_000447.2(PSEN2) c.261C>T (p.(=)):0.48,0.48:0.490158,0.490158 1 227071621 . G . . NT END=227073238;NT GT ./. 1 227073381 . G . . NT END=227075791;NT GT ./. 1 227073410 rs2236910 G C 287 nt VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.2644,A/.,C/0.7356,T/.;Gene=PSEN2/NM_000447.2/1;CC=c.498+30G>C;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.498+30G>C;VC=Intron;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:80:38:0:0:80:2489:286.85:88.31:198.55:1.00:1.00:1.00:60:41.2:0:0:85:55:23:NM_000447.2(PSEN2) c.498+30G>C,NM_000447.2(PSEN2) c.498+30G>C:0.74,0.74:0.792942,0.792942 1 227075860 . G . . NT END=227076529;NT GT ./. 1 227075984 rs1800680 G A 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9365,A/0.0635;Gene=PSEN2/NM_000447.2/1;CC=c.566+125G>A;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.566+125G>A;VC=Intron;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:266:30.42:0.00:30.42:1.00:0.00:1.00:60:33.2:0:0:126:24:5:NM_000447.2(PSEN2) c.566+125G>A,NM_000447.2(PSEN2) c.566+125G>A:0.08,0.08:NOT_FOUND,NOT_FOUND 1 227076719 rs147702142 G C 82 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.9976,A/.,C/0.002396;NP=18;PC=0.779;Gene=PSEN2/NM_000447.2/1;CC=c.756G>C;ProtCh=p.A252=;VC=Silent;Gene=PSEN2/NM_012486.2/0;CC=c.756G>C;ProtCh=p.A252=;VC=Silent;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:56:30:0:0:26,30:867,974:82.31,0.00:32.39,0.00:49.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,3.9:0,0:0,0:75,100:73,49:27,26:NM_000447.2(PSEN2) c.756G>C (p.(=)),-:0.01,-:0.003076,- 1 227076751 . G . . NT END=227077735;NT GT ./. 1 227077835 . G . . NT END=227078978;NT GT ./. 1 227078955 rs2802267 T C 204 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=PSEN2/NM_000447.2/1;CC=c.887-24T>C;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.887-24T>C;VC=Intron;DM=PSEN2/Presenilin;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A,C:57:45:0:0:1,56:11,1781:0.21,204.12:0.00,125.23:0.21,78.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.0,40.8:0,0:0,0:45,48:106,95:0,35:NM_000447.2(PSEN2) c.887-24T>C,NM_000447.2(PSEN2) c.887-24T>C:0.74,0.74:0.780101,0.780101 1 227079063 . G . . NT END=227079443;NT GT ./. 1 227079222 rs2236915 C G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5581,G/0.4419;Gene=PSEN2/NM_000447.2/1;CC=c.970+160C>G;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.970+160C>G;VC=Intron;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:4:0:0:10:296:34.33:12.36:21.96:1.00:1.00:1.00:60:47.6:0:0:73:77:25:NM_000447.2(PSEN2) c.970+160C>G,NM_000447.2(PSEN2) c.970+160C>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 227079546 . G . . NT END=227081707;NT GT ./. 1 227081622 rs10753428 A G 101 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.2999,G/0.7001;Gene=PSEN2/NM_000447.2/1;CC=c.1073-86A>G;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.1070-86A>G;VC=Intron;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:29:0:0:29:877:101.43:95.86:5.57:1.00:1.00:1.00:60:35.5:0:0:47:104:33:NM_000447.2(PSEN2) c.1073-86A>G,NM_000447.2(PSEN2) c.1073-86A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 1 227081827 . G . . NT END=227083124;NT GT ./. 1 227081850 rs2855562 G A 180 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.4259,A/0.5741;Gene=PSEN2/NM_000447.2/1;CC=c.1191+24G>A;VC=Intron;Gene=PSEN2/NM_012486.2/0;CC=c.1188+24G>A;VC=Intron;DM=PSEN2/Presenilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:A,T:51:22:0:0:50,1:1567,11:180.04,0.22:52.65,0.00:127.38,0.22:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,124.0:0,0:0,0:106,137:39,-21:27,0:NM_000447.2(PSEN2) c.1191+24G>A,NM_000447.2(PSEN2) c.1191+24G>A:0.59,0.59:0.537758,0.537758 1 227083281 . G . . NT END=227149086;NT GT ./. 1 227148113 rs111205900 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;Gene=ADCK3/NM_020247.4/1;CC=c.-9-965C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:6:1:0:1:1,5:35,161:0.00,17.31:0.00,-0.39:0.00,17.70:0.00,0.99:0.00,0.89:0.00,0.99:60,60:10.0,135.0:0,0:0,0:17,107:117,14:0,42:-,NM_020247.4(ADCK3) c.-9-965C>T:-,NOT_FOUND:-,NOT_FOUND 1 227148120 . A G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;PC=0.014;Gene=ADCK3/NM_020247.4/1;CC=c.-9-958A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G,T:9:3:0:0:5,3,1:123,98,11:0.00,8.93,0.42:0.00,-0.26,-0.08:0.00,9.19,0.50:0.00,0.64,0.00:0.00,0.73,0.00:0.00,0.64,0.00:60,60,29:120.0,112.3,272.0:1,0,0:0,0,0:25,114,25:81,7,126:6,30,0:-,NM_020247.4(ADCK3) c.-9-958A>G:-,NOT_FOUND:-,NOT_FOUND 1 227148159 rs111205901 A G 13 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=31;PC=0.014;Gene=ADCK3/NM_020247.4/1;CC=c.-9-919A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,G:8:5:0:0:4,4:137,135:0.00,13.00:0.00,1.13:0.00,11.87:0.00,0.87:0.00,0.96:0.00,0.99:60,60:0.0,216.2:0,0:0,0:19,65:116,73:9,4:-,NM_020247.4(ADCK3) c.-9-919A>G:-,NOT_FOUND:-,NOT_FOUND 1 227148178 rs201160010 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=3;PC=0.152;Gene=ADCK3/NM_020247.4/1;CC=c.-9-900A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G:8:6:0:1:4,4:140,106:0.00,10.05:0.00,1.86:0.00,8.19:0.00,0.87:0.00,0.73:0.00,0.73:60,60:0.0,200.5:0,0:0,0:38,81:97,46:9,3:-,NM_020247.4(ADCK3) c.-9-900A>G:-,NOT_FOUND:-,NOT_FOUND 1 227149264 . G . . NT END=227152700;NT GT ./. 1 227153112 . G . . NT END=227153371;NT GT ./. 1 227153439 . G . . NT END=227165149;NT GT ./. 1 227165097 rs3806263 G A 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7374,A/0.2626;PC=0.004;Gene=ADCK3/NM_020247.4/1;CC=c.656-53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:50:0:0:20,39:633,1192:56.49,0.00:32.26,0.00:24.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.9,6.8:0,0:0,0:43,34:103,103:21,22:NM_020247.4(ADCK3) c.656-53G>A,-:0.27,-:0.23197,- 1 227165225 . G . . NT END=227169727;NT GT ./. 1 227165484 rs1888826 T C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1348,C/0.8652;Gene=ADCK3/NM_020247.4/1;CC=c.730+260T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:41.0:0:0:140:11:5:NM_020247.4(ADCK3) c.730+260T>C,NM_020247.4(ADCK3) c.730+260T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 227169851 . G . . NT END=227170378;NT GT ./. 1 227170298 rs2297412 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.644,G/0.356;Gene=ADCK3/NM_020247.4/1;CC=c.854-81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:11:11:0:0:4,7:138,211:0.00,21.31:0.00,21.75:0.00,-0.44:0.00,1.00:0.00,1.00:0.00,0.89:60,60:0.0,34.3:0,0:0,0:46,23:103,128:11,23:-,NM_020247.4(ADCK3) c.854-81A>G:-,0.35:-,NOT_FOUND 1 227170465 . G . . NT END=227170594;NT GT ./. 1 227170543 rs2297413 C G 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.8017,G/0.1983;PC=0.005;Gene=ADCK3/NM_020247.4/1;CC=c.940-52C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:80:61:0:0:38,42:1161,1293:0.00,125.25:0.00,71.74:0.00,53.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,40.8:0,0:0,0:53,52:90,95:38,29:-,NM_020247.4(ADCK3) c.940-52C>G:-,0.21:-,0.203245 1 227170736 . G . . NT END=227171252;NT GT ./. 1 227171335 . G . . NT END=227171461;NT GT ./. 1 227171556 . G . . NT END=227171794;NT GT ./. 1 227171584 rs397840166 GT G 90 nt VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=GT/0.7378,G/0.2622;DB;DBA=NA;PAF=GT/0.7378,G/0.2622;NP=1377;Gene=ADCK3/NM_020247.4/1;CC=c.1256+32delT;VC=Intron;DM=ADCK3/ABC1;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:62:32:0:31:32,30:1051,944:0.00,90.06:0.00,42.60:0.00,47.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,11.6:0,0:0,0:101,121:44,28:28,16:-,NM_020247.4(ADCK3) c.1256+30delT:-,0.28:-,0.39249 1 227171737 rs1574184 G T 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.7188,T/0.2812;NP=733;PC=0.348;Gene=ADCK3/NM_020247.4/1;CC=c.1257-58G>T;VC=Intron;DM=ADCK3/ABC1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:75:61:0:2:1,46,28:8,1395,732:-0.18,0.00,65.12:-0.20,0.00,33.20:0.01,0.00,31.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:102.0,38.7,87.1:0,0,0:0,0,0:78,49,58:36,96,90:0,23,30:-,NM_020247.4(ADCK3) c.1257-58G>T:-,NOT_FOUND:-,NOT_FOUND 1 227171739 rs1574185 G C,T 151 nt VT=SNV;PN=G;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.7198,C/.,T/0.2802;NP=487;NP=757;PC=0.070;DM=ADCK3/ABC1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:A,C,G,T:76:61:0:0:1,46,1,28:11,1394,9,814:0.15,150.71,0.00,82.38:-0.01,112.12,0.00,46.74:0.16,38.59,0.00,35.65:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,59,60:163.0,41.0,146.0,72.0:0,0,0,2:0,0,0,0:89,49,43,59:43,94,89,89:0,28,0,21:NM_020247.4(ADCK3) c.1257-56G>C,NM_020247.4(ADCK3) c.1257-56G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 227171937 . G . . NT END=227172248;NT GT ./. 1 227172290 rs12593 C T 64 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=59;DB;DBA=in-clinvar;PAF=C/0.7614,G/.,T/0.2386;PC=0.833;Gene=ADCK3/NM_020247.4/1;CC=c.1440C>T;ProtCh=p.F480=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:59:41:0:0:1,35,23:14,1121,702:0.08,0.00,64.24:-0.15,0.00,37.50:0.23,0.00,26.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:184.0,9.3,39.7:0,0,0:0,0,0:8,59,38:143,91,108:0,31,27:-,NM_020247.4(ADCK3) c.1440C>T (p.(=)):-,0.28:-,0.373674 1 227172357 . G . . NT END=227172576;NT GT ./. 1 227172643 . G . . NT END=227172954;NT GT ./. 1 227172903 rs2297415 G A 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.7304,A/0.2696;Gene=ADCK3/NM_020247.4/1;CC=c.1573-52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:31:0:0:19,19:639,572:61.51,0.00:39.02,0.00:22.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:79.5,17.3:0,0:0,0:48,42:96,109:33,17:NM_020247.4(ADCK3) c.1573-52G>A,-:0.3,-:0.413883,- 1 227172935 rs2297416 C G 62 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7348,G/0.2652;Gene=ADCK3/NM_020247.4/1;CC=c.1573-20C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:37:0:0:24,22:727,657:0.00,62.18:0.00,32.43:0.00,29.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,61.8:0,0:0,0:62,60:82,83:36,29:-,NM_020247.4(ADCK3) c.1573-20C>G:-,0.29:-,0.398585 1 227173042 . G . . NT END=227174153;NT GT ./. 1 227173892 rs17592479 T A 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6877,A/0.3123;Gene=ADCK3/NM_020247.4/1;CC=c.1660-262T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,T:6:6:0:0:3,3:73,89:6.90,0.00:6.90,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:53.3,0.0:0,0:0,0:55,45:96,106:28,43:NM_020247.4(ADCK3) c.1660-262T>A,-:0.34,-:NOT_FOUND,- 1 227174145 rs7552783 T C 150 nt VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.6484,C/0.3516;Gene=ADCK3/NM_020247.4/1;CC=c.1660-9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:92:73:0:0:48,2,42:1547,10,1418:150.49,-0.31,0.00:76.94,-0.19,0.00:73.55,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:67.6,147.5,14.5:0,0,0:0,0,0:60,105,47:87,46,97:31,2,26:NM_020247.4(ADCK3) c.1660-9T>C,-:0.38,-:0.475704,- 1 227174210 rs3738725 T C 152 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=in-clinvar;PAF=T/0.6861,C/0.3139;Gene=ADCK3/NM_020247.4/1;CC=c.1716T>C;ProtCh=p.S572=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:111:79:0:0:55,56:1593,1786:152.06,0.00:72.11,0.00:79.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.1,13.7:0,0:0,0:86,69:64,81:40,25:NM_020247.4(ADCK3) c.1716T>C (p.(=)),-:0.34,-:0.442181,- 1 227174439 . G . . NT END=227181968;NT GT ./. 1 227181838 rs3795449 T G 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.731,G/0.269;Gene=CDC42BPA/NM_003607.3/1;CC=c.*131A>C;VC=3UTR;Gene=CDC42BPA/NM_014826.4/0;CC=c.*131A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:20:0:0:9,12:291,357:27.15,0.00:27.40,0.00:-0.24,0.00:1.00,0.00:1.00,0.00:0.62,0.00:60,60:46.9,4.5:0,0:0,0:70,32:79,118:28,18:NM_003607.3(CDC42BPA) c.*131A>C,-:0.3,-:NOT_FOUND,- 1 227181923 rs3795451 C T 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7149,A/.,T/0.2851;Gene=CDC42BPA/NM_003607.3/1;CC=c.*46G>A;VC=3UTR;Gene=CDC42BPA/NM_014826.4/0;CC=c.*46G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:38:0:0:21,25:718,725:0.00,70.59:0.00,46.04:0.00,24.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,53.2:0,0:0,0:56,35:87,109:48,15:-,NM_003607.3(CDC42BPA) c.*46G>A:-,0.31:-,0.394311 1 227182033 rs2802269 G A 240 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.1218,A/0.8782;PC=0.634;Gene=CDC42BPA/NM_003607.3/1;CC=c.5096C>T;ProtCh=p.A1699V;VC=Missense;Gene=CDC42BPA/NM_014826.4/0;CC=c.4853C>T;ProtCh=p.A1618V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:A,C:69:50:0:0:68,1:2085,11:240.38,0.17:126.64,0.00:113.73,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,101.0:0,0:0,0:85,22:60,119:27,0:NM_003607.3(CDC42BPA) c.5096C>T (p.Ala1699Val),NM_003607.3(CDC42BPA) c.5096C>T (p.Ala1699Val):0.9,0.9:0.903337,0.903337 1 227182101 . C . . NT END=227182523;NT GT ./. 1 227182575 rs1045247 A G 352 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.1731,G/0.8269;Gene=CDC42BPA/NM_003607.3/1;CC=c.4977T>C;ProtCh=p.S1659=;VC=Silent;Gene=CDC42BPA/NM_014826.4/0;CC=c.4734T>C;ProtCh=p.S1578=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:76:0:0:98:3051:351.63:186.30:165.33:1.00:1.00:1.00:60:38.6:0:0:68:79:31:NM_003607.3(CDC42BPA) c.4977T>C (p.(=)),NM_003607.3(CDC42BPA) c.4977T>C (p.(=)):0.86,0.86:0.855528,0.855528 1 227182682 . C . . NT END=227192694;NT GT ./. 1 227182754 rs2297419 G A 49 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8586,A/0.1414;PC=0.012;Gene=CDC42BPA/NM_003607.3/1;CC=c.4871-73C>T;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4628-73C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:13:0:0:16,21:519,637:48.55,0.00:16.55,0.00:32.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,15.6:0,0:0,0:114,96:36,55:15,32:NM_003607.3(CDC42BPA) c.4871-73C>T,-:0.16,-:NOT_FOUND,- 1 227192579 rs2297418 A C 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7324,C/0.2676;Gene=CDC42BPA/NM_003607.3/1;CC=c.4870+116T>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4627+116T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,C:10:10:0:0:7,3:236,92:0.00,7.98:0.00,7.98:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:9.1,33.7:0,0:0,0:45,36:106,114:4,2:-,NM_003607.3(CDC42BPA) c.4870+116T>G:-,0.3:-,NOT_FOUND 1 227192813 . C . . NT END=227198578;NT GT ./. 1 227198434 rs398053864 AGAG A 17 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AGAG/0.7388,A/0.2612;DB;DBA=NA;PAF=AGAG/0.7388,A/0.2612;NP=168;Gene=CDC42BPA/NM_003607.3/1;CC=c.4752+5344_4752+5346delCTC;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4509+5344_4509+5346delCTC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:AGAG,A:8:8:0:5:3,5:95,168:0.00,16.89:0.00,16.89:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,0.0:0,0:0,0:77,53:73,98:55,21:-,NM_003607.3(CDC42BPA) c.4752+5344_4752+5346delCTC:-,0.29:-,NOT_FOUND 1 227198765 . C . . NT END=227203780;NT GT ./. 1 227203899 . C . . NT END=227204627;NT GT ./. 1 227204372 rs11340205 TG T 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TG/0.6478,T/0.3522;NP=160;PC=0.002;Gene=CDC42BPA/NM_003607.3/1;CC=c.4634+255delC;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4391+255delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TG,T:7:6:0:4:3,4:97,125:0.00,12.33:0.00,12.70:0.00,-0.37:0.00,0.90:0.00,0.99:0.00,0.71:60,60:29.7,43.8:0,0:0,0:141,53:10,96:9,2:-,NM_003607.3(CDC42BPA) c.4634+255delC:-,0.39:-,NOT_FOUND 1 227204557 rs17600747 T C 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8526,C/0.1474;Gene=CDC42BPA/NM_003607.3/1;CC=c.4634+71A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4391+71A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:27:0:0:13,15:433,497:41.10,0.00:37.87,0.00:3.24,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:38.2,5.9:0,0:0,0:29,35:122,110:13,18:NM_003607.3(CDC42BPA) c.4634+71A>G,-:0.16,-:NOT_FOUND,- 1 227204752 . C . . NT END=227210963;NT GT ./. 1 227204908 rs72764208 C T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9024,T/0.09764;Gene=CDC42BPA/NM_003607.3/1;CC=c.4511-157G>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4268-157G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:C,T:13:1:0:0:6,7:176,227:0.00,22.15:0.00,1.80:0.00,20.35:0.00,0.99:0.00,0.69:0.00,0.99:60,60:6.3,35.4:0,0:0,0:92,90:55,61:13,17:-,NM_003607.3(CDC42BPA) c.4511-157G>A:-,0.1:-,NOT_FOUND 1 227210820 rs11580229 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7143,A/0.2857;PC=0.001;Gene=CDC42BPA/NM_003607.3/1;CC=c.4510+144C>T;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4267+144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:5:0:0:3,2:96,69:9.57,0.00:9.57,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:65.3,21.5:0,0:0,0:31,66:120,83:22,10:NM_003607.3(CDC42BPA) c.4510+144C>T,-:0.32,-:NOT_FOUND,- 1 227210888 rs11578479 A T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.7139,T/0.2861;Gene=CDC42BPA/NM_003607.3/1;CC=c.4510+76T>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4267+76T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,C,T:14:14:0:0:5,1,8:162,14,264:0.00,0.62,26.43:0.00,0.62,24.62:0.00,0.00,1.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.71:60,60,60:2.0,33.0,45.0:0,0,0:0,0,0:49,145,64:102,6,86:7,0,9:-,NM_003607.3(CDC42BPA) c.4510+76T>A:-,0.32:-,NOT_FOUND 1 227211049 . C . . NT END=227213755;NT GT ./. 1 227213854 . C . . NT END=227216357;NT GT ./. 1 227213968 rs7535826 G T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7013,T/0.2987;Gene=CDC42BPA/NM_003607.3/1;CC=c.4328-115C>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.4085-115C>A;VC=Intron;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:G,T:8:0:0:0:5,3:150,94:0.00,8.53:0.00,0.00:0.00,8.53:0.00,0.67:0.00,0.00:0.00,0.67:60,60:4.0,34.3:0,0:0,0:95,108:56,43:45,1:-,NM_003607.3(CDC42BPA) c.4328-115C>A:-,0.33:-,NOT_FOUND 1 227216662 rs1929861 T C 109 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.5956,C/0.4044;PC=0.998;Gene=CDC42BPA/NM_003607.3/1;CC=c.4023A>G;ProtCh=p.K1341=;VC=Silent;Gene=CDC42BPA/NM_014826.4/0;CC=c.3780A>G;ProtCh=p.K1260=;VC=Silent;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:52:0:0:35,46:1162,1550:108.84,0.00:51.59,0.00:57.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,7.2:0,0:0,0:71,77:79,66:43,28:NM_003607.3(CDC42BPA) c.4023A>G (p.(=)),-:0.46,-:0.460634,- 1 227216775 rs1929860 C T 135 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.7198,A/.,G/.,T/0.2802;PC=0.263;Gene=CDC42BPA/NM_003607.3/1;CC=c.3910G>A;ProtCh=p.V1304I;VC=Missense;Gene=CDC42BPA/NM_014826.4/0;CC=c.3667G>A;ProtCh=p.V1223I;VC=Missense;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:93:66:0:0:51,42:1632,1430:0.00,135.25:0.00,63.65:0.00,71.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,42.9:0,0:0,0:75,72:72,73:36,29:-,NM_003607.3(CDC42BPA) c.3910G>A (p.Val1304Ile):-,0.33:-,0.282408 1 227216952 . C . . NT END=227218108;NT GT ./. 1 227217905 rs12403775 T C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8261,C/0.1739;Gene=CDC42BPA/NM_003607.3/1;CC=c.3733+204A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.3490+204A>G;VC=Intron;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,T:6:6:0:0:5,1:165,30:17.71,0.00:17.71,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:71.0,0.0:0,0:0,0:84,2:66,149:27,0:NM_003607.3(CDC42BPA) c.3733+204A>G,-:0.19,-:NOT_FOUND,- 1 227218069 rs5781458 C CAT 95 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.1623,T/0.08686;DB;DBA=NA;PAF=C/0.1623,CAT/0.7508;NP=3027;Gene=CDC42BPA/NM_003607.3/1;CC=c.3733+39_3733+40insAT;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.3490+39_3490+40insAT;VC=Intron;DM=CDC42BPA/CNH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:CAT:26:24:26:0:26:824:94.79:74.27:20.52:1.00:1.00:1.00:70:8.0:0:0:65:85:40:NM_003607.3(CDC42BPA) c.3733+39_3733+40insAT,NM_003607.3(CDC42BPA) c.3733+39_3733+40insAT:NOT_FOUND,NOT_FOUND:0.831022,0.831022 1 227218085 rs367989633 CA C 10 rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=CA/0.8285,C/0.1715;DB;DBA=NA;PAF=CA/0.8285,C/0.1715;NP=452;Gene=CDC42BPA/NM_003607.3/1;CC=c.3733+23delT;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.3490+23delT;VC=Intron;DM=CDC42BPA/CNH;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CA,I,C:30:27:2:4:24,2,4:720,62,126:0.00,4.09,9.52:0.00,4.31,5.93:0.00,-0.23,3.59:0.00,0.00,0.64:0.00,0.00,0.94:0.00,0.00,0.81:70,60,60:3.7,48.0,3.0:0,0,0:0,0,0:54,85,67:93,65,83:37,19,27:-,NM_003607.3(CDC42BPA) c.3733+23delT:-,NOT_FOUND:-,NOT_FOUND 1 227218172 . C . . NT END=227218998;NT GT ./. 1 227219216 . C . . NT END=227221034;NT GT ./. 1 227219314 rs1319103 A G 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6925,G/0.3075;PC=0.002;Gene=CDC42BPA/NM_003607.3/1;CC=c.3454-99T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.3211-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:8,9:249,303:0.00,29.49:0.00,0.00:0.00,29.49:0.00,1.00:0.00,0.00:0.00,1.00:60,60:46.5,34.8:0,0:0,0:80,121:70,30:45,14:-,NM_003607.3(CDC42BPA) c.3454-99T>C:-,0.32:-,NOT_FOUND 1 227221117 . C . . NT END=227222355;NT GT ./. 1 227221251 rs12031609 T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7825,C/0.2175;PC=0.003;Gene=CDC42BPA/NM_003607.3/1;CC=c.3372-135A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.3129-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:9:0:0:0:4,5:122,142:11.43,0.00:0.00,0.00:11.43,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:30.5,10.6:0,0:0,0:130,103:20,46:14,30:NM_003607.3(CDC42BPA) c.3372-135A>G,-:0.22,-:NOT_FOUND,- 1 227222496 . C . . NT END=227223171;NT GT ./. 1 227222515 rs75932572 G GACAA 130 nt VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.004593,GACAA/0.9954;DB;DBA=NA;PAF=G/0.004593,GACAA/0.9954,GATAA/.;DB;DBA=NA;PAF=G/0.004593,GACAA/0.9954;DB;DBA=NA;PAF=NA;NP=3453;PC=0.008;Gene=CDC42BPA/NM_003607.3/1;CC=c.3232-24_3232-21dupTTGT;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2989-24_2989-21dupTTGT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GACAA:50:18:39:0:11,39:339,1226:0.00,129.81:0.00,34.53:0.00,95.28:0.00,1.00:0.00,1.00:0.00,1.00:60,70:13.0,3.6:0,0:0,0:144,77:6,63:5,27:-,NM_003607.3(CDC42BPA) c.3232-21_3232-20insTTGT:-,NOT_FOUND:-,0.998802 1 227223041 rs79485308 A C 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9834,C/0.01657;Gene=CDC42BPA/NM_003607.3/1;CC=c.3231+131T>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2988+131T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,C:9:9:0:0:5,4:154,132:0.00,12.42:0.00,12.42:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:6.2,38.0:0,0:0,0:34,41:117,109:33,21:-,NM_003607.3(CDC42BPA) c.3231+131T>G:-,0.02:-,NOT_FOUND 1 227223309 . C . . NT END=227227831;NT GT ./. 1 227227740 rs12026688 A C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7762,C/0.2238;Gene=CDC42BPA/NM_003607.3/1;CC=c.3094+92T>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2851+92T>G;VC=Intron;DM=CDC42BPA/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,C:12:12:0:0:5,7:142,209:0.00,20.72:0.00,20.72:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:34.0,35.7:0,0:0,0:53,72:98,79:30,27:-,NM_003607.3(CDC42BPA) c.3094+92T>G:-,0.22:-,NOT_FOUND 1 227227938 . C . . NT END=227235627;NT GT ./. 1 227235510 rs114098136 A G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9631,G/0.03694;Gene=CDC42BPA/NM_003607.3/1;CC=c.2988+118T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2745+118T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G:6:6:0:0:1,5:33,172:0.00,18.41:0.00,18.41:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,45.4:0,0:0,0:22,40:128,107:0,26:-,NM_003607.3(CDC42BPA) c.2988+118T>C:-,0.04:-,NOT_FOUND 1 227235712 . C . . NT END=227239581;NT GT ./. 1 227239687 . C . . NT END=227247073;NT GT ./. 1 227239702 rs56176301 G A 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.9848,A/0.01518;PC=0.266;Gene=CDC42BPA/NM_003607.3/1;CC=c.2905-3991C>T;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2662-3991C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:20:0:0:19,21:638,632:60.86,0.00:17.29,0.00:43.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.5,31.3:0,0:0,0:91,117:60,34:28,29:NM_003607.3(CDC42BPA) c.2905-3991C>T,-:0.02,-:0.033659,- 1 227239746 rs10799381 G T 74 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3417,T/0.6583;PC=0.997;Gene=CDC42BPA/NM_003607.3/1;CC=c.2905-4035C>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2662-4035C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:7:0:0:22:640:74.41:12.88:61.53:1.00:1.00:1.00:60:56.5:0:0:72:75:34:NM_003607.3(CDC42BPA) c.2905-4035C>A,NM_003607.3(CDC42BPA) c.2905-4035C>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 227246890 rs59693176 C CA 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7708,CA/0.2292;DB;DBA=NA;PAF=C/0.7708,CA/0.2292;DB;DBA=NA;PAF=C/0.7708,CA/0.2292;NP=14;PC=0.123;Gene=CDC42BPA/NM_003607.3/1;CC=c.2904+10587dupT;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2661+10587dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,C,CA:7:7:4:0:1,2,4:31,64,127:2.60,0.00,12.90:2.60,0.00,12.90:0.00,0.00,0.00:0.00,0.00,0.90:0.00,0.00,0.90:0.00,0.00,0.00:60,60,60:31.0,0.0,0.0:0,0,0:0,0,0:1,130,68:150,20,82:0,4,13:-,NM_003607.3(CDC42BPA) c.2904+10587_2904+10588insT:-,NOT_FOUND:-,NOT_FOUND 1 227247113 . C . . NT END=227256354;NT GT ./. 1 227256403 . C . . NT END=227257477;NT GT ./. 1 227257555 . C . . NT END=227259908;NT GT ./. 1 227260001 . C . . NT END=227261564;NT GT ./. 1 227261403 rs10495260 T C 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7712,C/0.2288;Gene=CDC42BPA/NM_003607.3/1;CC=c.2735+162A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2492+162A>G;VC=Intron;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:13:13:0:0:8,5:273,168:27.35,0.00:27.35,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.6,0.0:0,0:0,0:27,45:123,105:5,22:NM_003607.3(CDC42BPA) c.2735+162A>G,-:0.23,-:NOT_FOUND,- 1 227261714 . C . . NT END=227261959;NT GT ./. 1 227262066 . C . . NT END=227268593;NT GT ./. 1 227268488 rs1929853 T G 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.7418,G/0.2582;Gene=CDC42BPA/NM_003607.3/1;CC=c.2480+106A>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2237+106A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:27:0:0:16,12:503,405:49.61,0.00:44.36,0.00:5.25,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:32.1,0.0:0,0:0,0:34,52:116,98:18,24:NM_003607.3(CDC42BPA) c.2480+106A>C,-:0.29,-:NOT_FOUND,- 1 227268719 . C . . NT END=227279586;NT GT ./. 1 227268836 rs12047828 T C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.7714,C/0.2286;PC=0.002;Gene=CDC42BPA/NM_003607.3/1;CC=c.2356-118A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2113-118A>G;VC=Intron;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:4:0:0:7,13:234,380:21.13,0.00:-0.47,0.00:21.60,0.00:0.97,0.00:0.82,0.00:1.00,0.00:60,60:37.6,12.1:0,0:0,0:120,119:31,31:17,27:NM_003607.3(CDC42BPA) c.2356-118A>G,-:0.23,-:NOT_FOUND,- 1 227279693 . C . . NT END=227288692;NT GT ./. 1 227288414 rs10916087 A G 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7829,G/0.2171;NP=88;PC=0.007;Gene=CDC42BPA/NM_003607.3/1;CC=c.2249+279T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2006+279T>C;VC=Intron;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:6:6:0:0:4,2:125,71:0.00,6.40:0.00,4.65:0.00,1.75:0.00,0.42:0.00,0.42:0.00,0.56:60,70:78.2,101.5:0,0:0,0:39,40:111,96:25,22:-,NM_003607.3(CDC42BPA) c.2249+279T>C:-,NOT_FOUND:-,NOT_FOUND 1 227288430 rs694370 C G 18 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7412,G/0.2588;Gene=CDC42BPA/NM_003607.3/1;CC=c.2249+263G>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2006+263G>C;VC=Intron;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,G:7:7:0:0:2,5:70,172:0.00,17.77:0.00,18.31:0.00,-0.54:0.00,0.98:0.00,0.98:0.00,0.93:70,60:101.5,95.0:0,0:0,0:56,36:80,115:22,26:-,NM_003607.3(CDC42BPA) c.2249+263G>C:-,0.3:-,NOT_FOUND 1 227288478 . T TGTGTGTGCGC 12 nt VT=INS;SST=Single;DP=7;PC=0.001;Gene=CDC42BPA/NM_003607.3/1;CC=c.2249+214_2249+215insGCGCACACAC;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2006+214_2006+215insGCGCACACAC;VC=Intron;DM=CDC42BPA/CNH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:T,TGTGTGTGCGC:6:6:5:0:2,4:70,148:0.00,11.60:0.00,7.12:0.00,4.48:0.00,0.90:0.00,0.99:0.00,0.97:60,70:56.5,70.8:0,1:0,0:90,72:49,78:8,50:-,NM_003607.3(CDC42BPA) c.2249+214_2249+215insGCGCACACAC:-,NOT_FOUND:-,NOT_FOUND 1 227288482 rs11802356 T C 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.844,C/0.156;PC=0.004;Gene=CDC42BPA/NM_003607.3/1;CC=c.2249+211A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2006+211A>G;VC=Intron;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:8:6:0:0:6,2:167,69:17.56,0.00:14.41,0.00:3.15,0.00:1.00,0.00:1.00,0.00:0.85,0.00:70,60:78.2,56.5:1,0:0,0:79,94:71,45:31,8:NM_003607.3(CDC42BPA) c.2249+211A>G,-:NOT_FOUND,-:NOT_FOUND,- 1 227288655 rs2104863 G A 139 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.1651,A/0.8349;Gene=CDC42BPA/NM_003607.3/1;CC=c.2249+38C>T;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.2006+38C>T;VC=Intron;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:A:38:36:0:0:38:1208:138.88:112.04:26.84:1.00:1.00:1.00:60:34.4:0:0:43:105:30:NM_003607.3(CDC42BPA) c.2249+38C>T,NM_003607.3(CDC42BPA) c.2249+38C>T:0.83,0.83:0.826786,0.826786 1 227288941 . C . . NT END=227300012;NT GT ./. 1 227289078 rs497291 A G 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.742,G/0.258;Gene=CDC42BPA/NM_003607.3/1;CC=c.2002-138T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1759-138T>C;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:A,G:12:0:0:0:5,7:139,226:0.00,22.41:0.00,0.00:0.00,22.41:0.00,0.99:0.00,0.00:0.00,0.99:60,60:4.2,63.9:0,0:0,0:113,121:38,30:14,11:-,NM_003607.3(CDC42BPA) c.2002-138T>C:-,0.29:-,NOT_FOUND 1 227289103 rs79766410 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9629,C/0.03714;Gene=CDC42BPA/NM_003607.3/1;CC=c.2002-163A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1759-163A>G;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:C,T:9:0:0:0:4,5:113,162:10.50,0.00:0.00,0.00:10.50,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:86.8,4.2:0,0:0,0:133,124:17,27:7,19:NM_003607.3(CDC42BPA) c.2002-163A>G,-:0.04,-:NOT_FOUND,- 1 227299978 rs2458521 C T 56 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.742,T/0.258;Gene=CDC42BPA/NM_003607.3/1;CC=c.2001+35G>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1758+35G>A;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:23:0:0:11,17:351,556:0.00,55.58:0.00,39.18:0.00,16.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,34.9:0,0:0,0:22,49:129,102:11,19:-,NM_003607.3(CDC42BPA) c.2001+35G>A:-,0.29:-,0.290449 1 227300124 . C . . NT END=227300371;NT GT ./. 1 227300277 rs488104 G A 214 nt VT=SNV;PN=A;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.3413,A/0.6587;Gene=CDC42BPA/NM_003607.3/1;CC=c.1890+95C>T;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1648-154C>T;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:47:0:0:60:1859:214.36:167.16:47.20:1.00:1.00:1.00:60:40.9:0:0:51:100:28:NM_003607.3(CDC42BPA) c.1890+95C>T,NM_003607.3(CDC42BPA) c.1890+95C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 1 227300615 . C . . NT END=227307504;NT GT ./. 1 227307639 . C . . NT END=227316809;NT GT ./. 1 227307789 rs16847140 A C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9834,C/0.01657;PC=0.001;Gene=CDC42BPA/NM_003607.3/1;CC=c.1514-151T>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1514-151T>G;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C:11:0:0:0:3,8:96,257:0.00,26.69:0.00,0.00:0.00,26.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.3,43.4:0,0:0,0:87,113:63,37:57,31:-,NM_003607.3(CDC42BPA) c.1514-151T>G:-,0.02:-,NOT_FOUND 1 227307861 rs78944317 A T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9631,T/0.03694;PC=0.001;Gene=CDC42BPA/NM_003607.3/1;CC=c.1514-223T>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1514-223T>A;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,T:7:0:0:0:4,3:131,78:0.00,7.14:0.00,0.00:0.00,7.14:0.00,0.69:0.00,0.00:0.00,0.69:60,60:36.0,85.0:0,0:0,0:138,65:11,85:6,1:-,NM_003607.3(CDC42BPA) c.1514-223T>A:-,0.04:-,NOT_FOUND 1 227316933 . C . . NT END=227327276;NT GT ./. 1 227327444 . C . . NT END=227330645;NT GT ./. 1 227327502 rs41268741 G A 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.9629,A/0.03714;Gene=CDC42BPA/NM_003607.3/1;CC=c.1224-59C>T;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1224-59C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:7:0:0:15,19:504,594:47.45,0.00:8.58,0.00:38.87,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:65.1,18.3:0,0:0,0:117,111:31,39:18,18:NM_003607.3(CDC42BPA) c.1224-59C>T,-:0.04,-:NOT_FOUND,- 1 227327527 rs41268743 T C 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9631,C/0.03694;PC=0.854;Gene=CDC42BPA/NM_003607.3/1;CC=c.1224-84A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1224-84A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:4:0:0:11,13:355,394:33.57,0.00:6.73,0.00:26.84,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:69.3,15.3:0,0:0,0:134,131:17,20:13,16:NM_003607.3(CDC42BPA) c.1224-84A>G,-:0.04,-:NOT_FOUND,- 1 227330488 rs10916094 G T 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.09704,T/0.903;PC=0.002;Gene=CDC42BPA/NM_003607.3/1;CC=c.1223+158C>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1223+158C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:231:26.44:26.44:0.00:1.00:1.00:0.00:60:82.9:0:0:33:90:5:NM_003607.3(CDC42BPA) c.1223+158C>A,NM_003607.3(CDC42BPA) c.1223+158C>A:0.87,0.87:NOT_FOUND,NOT_FOUND 1 227330726 . C . . NT END=227333189;NT GT ./. 1 227330759 rs12139502 A G 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.258,G/0.742;Gene=CDC42BPA/NM_003607.3/1;CC=c.1144-34T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1144-34T>C;VC=Intron;DM=CDC42BPA/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:10:0:0:10,16:316,528:0.00,52.91:0.00,16.81:0.00,36.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.9,34.8:0,0:0,0:106,127:42,23:19,10:-,NM_003607.3(CDC42BPA) c.1144-34T>C:-,0.71:-,0.709519 1 227333055 rs6675599 A G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.134,G/0.866;Gene=CDC42BPA/NM_003607.3/1;CC=c.1143+135T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.1143+135T>C;VC=Intron;DM=CDC42BPA/Pkinase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:13:12:0:0:5,8:135,196:0.00,19.48:0.00,16.51:0.00,2.97:0.00,1.00:0.00,1.00:0.00,0.74:60,60:46.4,40.4:0,0:0,0:100,50:50,100:46,38:-,NM_003607.3(CDC42BPA) c.1143+135T>C:-,0.83:-,NOT_FOUND 1 227333439 . C . . NT END=227335059;NT GT ./. 1 227335261 . C . . NT END=227348243;NT GT ./. 1 227335329 rs6685954 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7716,C/0.2284;Gene=CDC42BPA/NM_003607.3/1;CC=c.694-69A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.694-69A>G;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/C1_1;DM=CDC42BPA/C1_1;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:17:0:0:0:5,12:177,352:15.63,0.00:0.00,0.00:15.63,0.00:0.88,0.00:0.00,0.00:0.88,0.00:60,60:35.4,11.4:0,0:0,0:110,112:41,39:13,7:NM_003607.3(CDC42BPA) c.694-69A>G,-:0.23,-:NOT_FOUND,- 1 227348338 . C . . NT END=227381486;NT GT ./. 1 227350567 rs71574598 A ATGTGTGTGTGTGTGTG 10 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;NP=6;PC=0.028;Gene=CDC42BPA/NM_003607.3/1;CC=c.600-2231_600-2230insCACACACACACACACA;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.600-2231_600-2230insCACACACACACACACA;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,ATGTGTGTGTGTGTGTG:4:2:3:0:1,3:34,99:0.00,10.35:0.00,1.53:0.00,8.83:0.00,0.85:0.00,0.95:0.00,0.85:60,60:36.0,46.0:0,0:0,0:103,91:22,60:0,3:-,NM_003607.3(CDC42BPA) c.600-2231_600-2230insCACACACACACACACA:-,NOT_FOUND:-,NOT_FOUND 1 227350569 rs71179202 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5331,G/0.4669;DB;DBA=NA;PAF=NA;NP=1;NP=147;NP=3;PC=0.024;Gene=CDC42BPA/NM_003607.3/1;CC=c.600-2232T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.600-2232T>C;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:2:0:0:1,3:34,106:0.00,11.05:0.00,3.95:0.00,7.10:0.00,0.85:0.00,0.95:0.00,0.85:60,60:8.0,59.7:0,0:0,0:109,105:42,34:0,7:-,NM_003607.3(CDC42BPA) c.600-2232T>C:-,NOT_FOUND:-,NOT_FOUND 1 227381326 rs6696485 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3305,T/0.6695;Gene=CDC42BPA/NM_003607.3/1;CC=c.599+161G>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.599+161G>A;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:8:8:0:0:5,3:158,101:0.00,9.23:0.00,9.23:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:5.2,56.0:0,0:0,0:43,81:108,68:27,38:-,NM_003607.3(CDC42BPA) c.599+161G>A:-,0.65:-,NOT_FOUND 1 227381373 rs3768436 G T 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3305,T/0.6695;Gene=CDC42BPA/NM_003607.3/1;CC=c.599+114C>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.599+114C>A;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:G,T:17:16:0:0:11,6:328,182:0.00,16.28:0.00,13.85:0.00,2.43:0.00,0.95:0.00,1.00:0.00,0.65:60,60:3.4,63.5:0,0:0,0:42,23:109,127:26,22:-,NM_003607.3(CDC42BPA) c.599+114C>A:-,0.63:-,NOT_FOUND 1 227381471 rs77722489 T G 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.9838,G/0.01617;Gene=CDC42BPA/NM_003607.3/1;CC=c.599+16A>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.599+16A>C;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:25:0:0:11,20:375,648:34.00,0.00:25.85,0.00:8.15,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:45.7,2.6:0,0:0,0:58,68:92,82:31,22:NM_003607.3(CDC42BPA) c.599+16A>C,-:0.02,-:0.027526,- 1 227381636 . C . . NT END=227387257;NT GT ./. 1 227381674 rs35780410 TA T 45 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=TA/0.7782,T/0.2218;NP=1057;Gene=CDC42BPA/NM_003607.3/1;CC=c.451-40delT;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.451-40delT;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:34:12:0:15:19,15:600,476:0.00,44.62:0.00,17.41:0.00,27.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,4.6:0,0:0,0:93,101:56,38:29,37:-,NM_003607.3(CDC42BPA) c.451-40delT:-,0.22:-,0.207062 1 227381847 rs1513608 G A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3305,A/0.6695;Gene=CDC42BPA/NM_003607.3/1;CC=c.451-212C>T;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.451-212C>T;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:7:0:0:0:4,3:139,98:13.73,0.00:0.00,0.00:13.73,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:35.2,0.0:0,0:0,0:119,124:31,26:16,4:NM_003607.3(CDC42BPA) c.451-212C>T,-:0.65,-:NOT_FOUND,- 1 227387143 rs3768435 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3305,G/0.6695;Gene=CDC42BPA/NM_003607.3/1;CC=c.450+115T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.450+115T>C;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G:8:8:0:0:2,6:60,205:0.00,21.41:0.00,21.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.0,37.8:0,0:0,0:34,56:116,94:33,32:-,NM_003607.3(CDC42BPA) c.450+115T>C:-,0.65:-,NOT_FOUND 1 227387354 . C . . NT END=227400836;NT GT ./. 1 227387361 rs3768434 A G 83 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.2007,G/0.7993;PC=0.083;Gene=CDC42BPA/NM_003607.3/1;CC=c.355-8T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.355-8T>C;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:26:0:0:15,27:509,823:0.00,83.14:0.00,32.85:0.00,50.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,32.8:0,0:0,0:105,102:40,46:17,21:-,NM_003607.3(CDC42BPA) c.355-8T>C:-,0.78:-,0.870191 1 227400792 rs1513612 A T 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6727,T/0.3273;PC=0.002;Gene=CDC42BPA/NM_003607.3/1;CC=c.354+45T>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.354+45T>A;VC=Intron;DM=CDC42BPA/CNH;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:22:19:0:0:12,10:394,317:0.00,29.89:0.00,21.68:0.00,8.21:0.00,1.00:0.00,1.00:0.00,0.96:60,60:6.0,35.1:0,0:0,0:54,38:97,112:23,23:-,NM_003607.3(CDC42BPA) c.354+45T>A:-,0.35:-,0.287387 1 227400921 . C . . NT END=227441764;NT GT ./. 1 227401072 rs67834063 GC G 25 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=GC/0.6727,G/0.3273;NP=403;PC=0.785;Gene=CDC42BPA/NM_003607.3/1;CC=c.271-153delG;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.271-153delG;VC=Intron;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil;DM=CDC42BPA/DMPK_coil;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:14:1:0:8:6,8:194,257:0.00,25.37:0.00,1.67:0.00,23.70:0.00,1.00:0.00,0.71:0.00,1.00:60,60:0.0,11.4:0,0:0,0:81,75:68,74:34,47:-,NM_003607.3(CDC42BPA) c.271-153delG:-,0.34:-,NOT_FOUND 1 227401170 rs1877619 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7983,C/0.2017;PC=0.023;Gene=CDC42BPA/NM_003607.3/1;CC=c.271-250A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.271-250A>G;VC=Intron;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:0:0:0:2,2:68,65:6.55,0.00:0.00,0.00:6.55,0.00:0.94,0.00:0.00,0.00:0.94,0.00:60,60:34.0,0.0:0,0:0,0:111,138:39,12:1,6:NM_003607.3(CDC42BPA) c.271-250A>G,-:0.22,-:NOT_FOUND,- 1 227441605 rs79238704 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9663,G/0.03375;PC=0.002;Gene=CDC42BPA/NM_003607.3/1;CC=c.270+160T>C;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.270+160T>C;VC=Intron;DM=CDC42BPA/Pkinase;DM=CDC42BPA/DMPK_coil;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:5:5:0:0:2,3:64,94:0.00,9.37:0.00,9.37:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,31.3:0,0:0,0:124,55:25,96:20,41:-,NM_003607.3(CDC42BPA) c.270+160T>C:-,0.03:-,NOT_FOUND 1 227441857 . C . . NT END=227504705;NT GT ./. 1 227452359 rs2718214 C T 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1444,T/0.8556;PC=0.002;Gene=CDC42BPA/NM_003607.3/1;CC=c.179-10503G>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.179-10503G>A;VC=Intron;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:164:18.78:18.78:0.00:1.00:1.00:0.00:60:37.0:0:0:38:113:16:NM_003607.3(CDC42BPA) c.179-10503G>A,NM_003607.3(CDC42BPA) c.179-10503G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 1 227452700 rs1969230 C T 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6747,T/0.3253;PC=0.591;Gene=CDC42BPA/NM_003607.3/1;CC=c.179-10844G>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.179-10844G>A;VC=Intron;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:17:4:0:0:5,12:172,378:0.00,39.05:0.00,10.68:0.00,28.37:0.00,1.00:0.00,0.99:0.00,1.00:60,60:3.8,54.2:0,0:0,0:93,103:58,46:44,42:-,NM_003607.3(CDC42BPA) c.179-10844G>A:-,0.35:-,NOT_FOUND 1 227452751 rs1533283 C T 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6747,T/0.3253;PC=1.000;Gene=CDC42BPA/NM_003607.3/1;CC=c.179-10895G>A;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.179-10895G>A;VC=Intron;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:14:5:0:0:5,9:167,283:0.00,28.63:0.00,8.42:0.00,20.21:0.00,1.00:0.00,0.99:0.00,1.00:60,60:29.6,72.4:0,0:0,0:69,65:82,85:30,23:-,NM_003607.3(CDC42BPA) c.179-10895G>A:-,0.35:-,NOT_FOUND 1 227452844 rs2670470 T C 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1414,C/0.8586;PC=0.417;Gene=CDC42BPA/NM_003607.3/1;CC=c.179-10988A>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.179-10988A>G;VC=Intron;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:4:0:0:9:294:33.69:7.90:25.79:1.00:1.00:1.00:60:63.3:0:0:100:50:32:NM_003607.3(CDC42BPA) c.179-10988A>G,NM_003607.3(CDC42BPA) c.179-10988A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 227504613 rs4653822 G C 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.1504,C/0.8496;PC=0.005;Gene=CDC42BPA/NM_003607.3/1;CC=c.178+93C>G;VC=Intron;Gene=CDC42BPA/NM_014826.4/0;CC=c.178+93C>G;VC=Intron;DM=CDC42BPA/DMPK_coil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C,G:21:21:0:0:20,1:576,11:65.48,0.00:61.57,0.00:3.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.1,136.0:0,0:0,0:39,19:111,131:27,0:NM_003607.3(CDC42BPA) c.178+93C>G,NM_003607.3(CDC42BPA) c.178+93C>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 227504794 rs11804613 T C 114 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.7288,C/0.2712;Gene=CDC42BPA/NM_003607.3/1;CC=c.90A>G;ProtCh=p.T30=;VC=Silent;Gene=CDC42BPA/NM_014826.4/0;CC=c.90A>G;ProtCh=p.T30=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:45:0:0:38,30:1164,1001:114.20,0.00:72.43,0.00:41.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.3,3.2:0,0:0,0:51,57:99,93:38,25:NM_003607.3(CDC42BPA) c.90A>G (p.(=)),-:0.28,-:0.195833,- 1 227504884 . G . . NT END=227751395;NT GT ./. 1 227597798 rs3000781 A T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2099,T/0.7901 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,T:4:4:0:0:1,3:21,93:0.00,9.76:0.00,7.93:0.00,1.83:0.00,0.85:0.00,0.85:0.00,0.83:60,60:20.0,55.7:0,0:0,0:2,53:149,88:0,9:-,chr1 g.227597797A>T (intergenic):-,0.81:-,NOT_FOUND 1 227597882 rs3000782 C T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2099,T/0.7901;PC=0.775 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:8:7:0:0:2,6:65,177:0.00,18.58:0.00,13.06:0.00,5.53:0.00,1.00:0.00,1.00:0.00,0.95:60,60:10.0,44.2:0,0:0,0:49,73:101,76:36,51:-,chr1 g.227597881C>T (intergenic):-,0.81:-,NOT_FOUND 1 227598071 rs3000783 T C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2099,C/0.7901;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:15:0:0:8,11:247,321:22.89,0.00:14.48,0.00:8.42,0.00:0.99,0.00:1.00,0.00:0.95,0.00:60,60:57.4,7.1:0,0:0,0:31,67:110,84:13,38:chr1 g.227598070T>C (intergenic),-:0.81,-:NOT_FOUND,- 1 227598169 rs3000784 G A 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.2101,A/0.7899;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:27:0:0:19,19:629,622:60.52,0.00:29.27,0.00:31.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,12.9:0,0:0,0:86,67:60,80:24,28:chr1 g.227598168G>A (intergenic),-:0.81,-:NOT_FOUND,- 1 227598446 rs3014290 T C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2117,C/0.7883;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:2:0:0:3,2:99,70:9.87,0.00:3.60,0.00:6.26,0.00:0.78,0.00:0.87,0.00:0.78,0.00:60,60:36.7,0.0:0,0:0,0:80,15:70,134:30,5:chr1 g.227598445T>C (intergenic),-:0.81,-:NOT_FOUND,- 1 227618550 rs6667621 C G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,G:7:2:0:0:4,3:118,78:0.00,7.15:0.00,-0.36:0.00,7.52:0.00,0.69:0.00,0.73:0.00,0.95:60,60:16.0,41.3:0,0:0,0:96,112:54,39:6,38:-,chr1 g.227618549C>G (intergenic):-,0.76:-,NOT_FOUND 1 227619788 . AAC A 7 rn VT=DEL;SST=Single;DP=4;NP=3;PC=0.001;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:AAC,A:3:4:0:3:1,2:34,102:0.00,6.85:0.00,3.43:0.00,3.43:0.00,0.94:0.00,0.94:0.00,0.89:60,60:0.0,6.5:0,1:0,0:105,46:40,105:0,5:-,chr1 g.227619789_227619790delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 227622011 rs7546172 A G 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5499,G/0.4501;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:13:0:0:7,9:238,288:0.00,28.33:0.00,19.36:0.00,8.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,39.0:0,0:0,0:74,61:75,89:37,25:-,chr1 g.227622010A>G (intergenic):-,0.43:-,NOT_FOUND 1 227622222 rs11586581 C T 10 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.389,T/0.611;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:4:0:0:0:1,3:32,93:0.00,9.75:0.00,0.00:0.00,9.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,31.0:0,0:0,0:41,146:110,5:0,0:-,chr1 g.227622221C>T (intergenic):-,0.58:-,NOT_FOUND 1 227680698 rs373871942 A C 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9904,C/0.009585;NP=2;PC=0.934 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,C:11:11:0:0:8,3:257,93:0.00,7.93:0.00,8.00:0.00,-0.07:0.00,0.60:0.00,0.60:0.00,0.52:60,40:14.1,141.7:0,0:0,0:23,16:128,135:15,5:-,chr1 g.227680697A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 227680704 rs547603010 C A 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9902,A/0.009784;PC=0.649 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,C:13:13:0:0:3,10:99,301:8.29,0.00:8.34,0.00:-0.06,0.00:0.58,0.00:0.58,0.00:0.49,0.00:40,60:141.7,12.7:0,0:0,0:22,21:129,129:5,17:chr1 g.227680703C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 227680712 . A G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;NP=4;PC=0.617 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:16:16:0:0:11,5:363,170:0.00,15.07:0.00,11.73:0.00,3.34:0.00,0.88:0.00,0.88:0.00,0.70:60,49:12.5,131.2:0,0:0,0:25,25:126,126:15,11:-,chr1 g.227680711A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 227680783 rs2814075 T C 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:44:0:0:20,26:617,871:57.56,0.00:45.12,0.00:12.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,60:101.2,13.5:0,0:0,0:38,32:101,102:26,19:chr1 g.227680782T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 227680868 rs28734771 T C 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.3642,C/0.6358;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:27:0:0:19,25:581,819:54.04,0.00:34.55,0.00:19.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:87.9,9.7:0,0:0,0:103,103:44,41:20,29:chr1 g.227680867T>C (intergenic),-:0.62,-:NOT_FOUND,- 1 227680892 rs2313244 T C 39 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.7362,C/0.2638;NP=1373;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:18:0:0:14,19:420,579:38.87,0.00:24.67,0.00:14.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:87.9,11.6:0,0:0,0:112,111:38,31:16,20:chr1 g.227680891T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 227680975 rs537199411 G A 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:11:0:0:0:3,8:96,247:8.24,0.00:0.00,0.00:8.24,0.00:0.60,0.00:0.00,0.00:0.60,0.00:27,40:35.7,22.5:0,0:0,0:44,108:107,41:5,28:chr1 g.227680974G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 227681379 rs200966016 C T 20 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1570;PC=0.068 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:9:9:0:0:3,6:102,196:0.00,19.97:0.00,20.45:0.00,-0.48:0.00,0.99:0.00,0.99:0.00,0.91:42,40:0.7,70.8:0,0:0,0:80,13:69,138:37,5:-,chr1 g.227681378C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 227681475 rs4653844 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.3199,C/0.6801;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:13:0:0:7,9:233,309:21.88,0.00:11.09,0.00:10.79,0.00:0.98,0.00:1.00,0.00:1.00,0.00:52,60:61.3,0.2:0,0:0,0:105,65:46,49:6,20:chr1 g.227681474T>C (intergenic),-:0.49,-:NOT_FOUND,- 1 227695344 rs199558361 G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2573;PC=0.537 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:168:19.18:5.67:13.52:1.00:1.00:1.00:27:75.0:0:0:67:84:41:chr1 g.227695343G>A (intergenic),chr1 g.227695343G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 227695408 rs200826225 T G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1626;PC=0.342 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:27:128.2:0:0:104:46:25:chr1 g.227695407T>G (intergenic),chr1 g.227695407T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 227695831 rs28415312 A G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1428;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:274:31.69:31.69:0.00:1.00:1.00:0.00:40:98.0:0:0:56:94:53:chr1 g.227695830A>G (intergenic),chr1 g.227695830A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 227695855 rs746061 A G 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5479,G/0.4521;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:311:35.87:35.87:0.00:1.00:1.00:0.00:40:111.8:0:0:37:113:23:chr1 g.227695854A>G (intergenic),chr1 g.227695854A>G (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 1 227695924 rs2313219 G C 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.5585,C/0.4415;NP=1448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:16:0:0:20:576:67.01:48.28:18.74:1.00:1.00:1.00:60:120.0:0:0:51:98:24:chr1 g.227695923G>C (intergenic),chr1 g.227695923G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 227695925 rs2313218 G A 72 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5585,A/0.4415;NP=1432;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:15:0:0:19:634:72.46:50.50:21.96:1.00:1.00:1.00:60:120.1:0:0:52:98:23:chr1 g.227695924G>A (intergenic),chr1 g.227695924G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 227696002 rs2018828 A G 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5381,G/0.4619;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:8:0:0:21:735:83.52:20.24:63.28:1.00:1.00:1.00:60:99.2:0:0:92:59:34:chr1 g.227696001A>G (intergenic),chr1 g.227696001A>G (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 1 227696033 rs2018654 T C 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5359,C/0.4641 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:3:0:0:18:521:60.58:7.05:53.53:1.00:1.00:1.00:60:97.5:0:0:97:54:27:chr1 g.227696032T>C (intergenic),chr1 g.227696032T>C (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 1 227696110 rs2018651 G A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5319,A/0.4681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:281:32.39:0.00:32.39:1.00:0.00:1.00:60:61.0:0:0:106:45:39:chr1 g.227696109G>A (intergenic),chr1 g.227696109G>A (intergenic):0.5,0.5:NOT_FOUND,NOT_FOUND 1 227751426 . G . . NT END=227834244;NT GT ./. 1 227751602 rs4653853 C A 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5473,A/0.4527;PC=0.179;Gene=ZNF678/NM_178549.3/1;CC=c.30+177C>A;VC=Intron;Gene=ZNF678/NR_033184.1/0;VC=NonCoding;Gene=ZNF678/NR_102302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:A,G:14:0:0:0:13,1:352,9:40.87,0.38:0.00,0.00:40.87,0.38:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.2,100.0:0,0:0,0:131,88:20,63:13,0:NM_178549.3(ZNF678) c.30+177C>A,NM_178549.3(ZNF678) c.30+177C>A:0.47,0.47:NOT_FOUND,NOT_FOUND 1 227786202 rs60885982 GT G 30 rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=GT/0.225,G/0.775;NP=706;PC=0.985;Gene=ZNF678/NM_178549.3/1;CC=c.123+15903delT;VC=Intron;Gene=ZNF678/NR_033184.1/0;VC=NonCoding;Gene=ZNF678/NR_102302.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,T,G:26:14:0:10:15,1,10:491,21,327:0.00,0.93,30.16:0.00,-0.10,10.30:0.00,1.03,19.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.6,31.0,0.0:0,0,0:0,0,0:109,122,92:23,29,58:19,0,27:-,NM_178549.3(ZNF678) c.123+15896delT:-,NOT_FOUND:-,NOT_FOUND 1 227834228 rs79145640 AT A 227 nt VT=DEL;SST=Single;DP=86;DB;DBA=NA;PAF=AT/0.7839,A/0.2161;NP=1083;PC=0.005;Gene=ZNF678/NM_178549.3/1;CC=c.124-12delT;VC=Intron;Gene=ZNF678/NR_033184.1/0;VC=NonCoding;Gene=ZNF678/NR_102302.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:86:71:0:70:17,69:521,2126:0.00,226.93:0.00,149.30:0.00,77.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.9,6.9:4,0:0,0:61,59:66,91:51,33:-,NM_178549.3(ZNF678) c.124-16delT:-,0.31:-,NOT_FOUND 1 227834233 rs9426531 T C 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=0.007;Gene=ZNF678/NM_178549.3/1;CC=c.124-12T>C;VC=Intron;Gene=ZNF678/NR_033184.1/0;VC=NonCoding;Gene=ZNF678/NR_102302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:C,T:84:68:0:3:10,74:335,2274:24.97,0.00:19.03,0.00:5.93,0.00:0.98,0.00:1.00,0.00:0.97,0.00:60,60:41.5,9.6:1,70:0,0:53,62:96,87:28,38:NM_178549.3(ZNF678) c.124-12T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 227834372 . G . . NT END=227842036;NT GT ./. 1 227834400 rs6426468 G A 320 nt VT=SNV;PN=T;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.2274,A/0.7726;Gene=ZNF678/NM_178549.3/1;CC=c.250+29G>A;VC=Intron;Gene=ZNF678/NR_033184.1/0;VC=NonCoding;Gene=ZNF678/NR_102302.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:85:46:0:0:85:2795:319.95:111.28:208.67:1.00:1.00:1.00:60:42.0:0:0:96:55:27:NM_178549.3(ZNF678) c.250+29G>A,NM_178549.3(ZNF678) c.250+29G>A:0.74,0.74:0.675208,0.675208 1 227843530 . A . . NT END=227920092;NT GT ./. 1 227919820 rs548905685 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4;PC=0.002;Gene=LOC100130093/NR_024485.1/0;VC=NonCoding;Gene=LOC100130093/NR_024486.1/0;VC=NonCoding;Gene=JMJD4/NM_001161465.1/1;CC=c.*273C>T;VC=3UTR;Gene=JMJD4/NM_023007.2/0;CC=c.*273C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:6:6:0:0:3,3:88,66:8.44,0.00:8.44,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:53.3,16.0:0,0:0,0:6,24:144,126:4,6:NM_023007.2(JMJD4) c.*273C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 227920061 rs1060295 T G 82 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.2512,G/0.7488;Gene=LOC100130093/NR_024485.1/0;VC=NonCoding;Gene=LOC100130093/NR_024486.1/0;VC=NonCoding;Gene=JMJD4/NM_001161465.1/1;CC=c.*32A>C;VC=3UTR;Gene=JMJD4/NM_023007.2/0;CC=c.*32A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:64:58:0:0:28,36:878,1136:82.13,0.00:64.50,0.00:17.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.1,12.8:0,0:0,0:48,66:102,69:29,39:NM_023007.2(JMJD4) c.*32A>C,-:0.74,-:0.682196,- 1 227920103 rs3087908 G A 141 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.8241,A/0.1759;Gene=LOC100130093/NR_024485.1/0;VC=NonCoding;Gene=LOC100130093/NR_024486.1/0;VC=NonCoding;Gene=JMJD4/NM_001161465.1/1;CC=c.1334C>T;ProtCh=p.A445V;VC=Missense;Gene=JMJD4/NM_023007.2/0;CC=c.1382C>T;ProtCh=p.A461V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:90:76:0:0:44,1,45:1468,14,1413:141.10,0.04,0.00:99.62,0.11,0.00:41.49,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:57.7,108.0,15.0:0,0,0:0,0,0:48,150,55:99,1,89:32,0,36:NM_023007.2(JMJD4) c.1382C>T (p.Ala461Val),-:0.2,-:0.175996,- 1 227920447 rs751748 C T 174 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.8241,T/0.1759;Gene=LOC100130093/NR_024485.1/0;VC=NonCoding;Gene=LOC100130093/NR_024486.1/0;VC=NonCoding;Gene=JMJD4/NM_001161465.1/1;CC=c.1060-70G>A;VC=Intron;Gene=JMJD4/NM_023007.2/0;CC=c.1108-70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:129:89:0:0:69,60:2237,1838:0.00,173.72:0.00,93.84:0.00,79.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,39.9:0,0:0,0:76,61:75,85:35,35:-,NR_024485.1(LOC100130093) n.769C>T:-,0.2:-,NOT_FOUND 1 227920729 . C . . NT END=227921114;NT GT ./. 1 227921383 . C . . NT END=227921607;NT GT ./. 1 227921734 . C . . NT END=227922351;NT GT ./. 1 227922518 . C . . NT END=227922712;NT GT ./. 1 227922918 rs2295994 A C 232 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=167;DB;DBA=NA;PAF=A/0.5847,C/0.4153;Gene=JMJD4/NM_001161465.1/1;CC=c.195T>G;ProtCh=p.D65E;VC=Missense;Gene=JMJD4/NM_023007.2/0;CC=c.195T>G;ProtCh=p.D65E;VC=Missense;Gene=SNAP47/NM_053052.3/1;CC=c.-193A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:167:122:0:0:92,74,1:2879,2459,5:0.00,231.70,-0.23:0.00,128.39,-0.12:0.00,103.30,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.5,43.5,61.0:0,0,0:0,0,0:67,59,88:78,84,63:39,26,0:-,NM_023007.2(JMJD4) c.195T>G (p.Asp65Glu):-,0.41:-,0.379091 1 227923081 rs7419238 G A 902 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=249;DB;DBA=NA;PAF=NA;NP=1985;Gene=JMJD4/NM_001161465.1/1;CC=c.32C>T;ProtCh=p.A11V;VC=Missense;Gene=JMJD4/NM_023007.2/0;CC=c.32C>T;ProtCh=p.A11V;VC=Missense;Gene=SNAP47/NM_053052.3/1;CC=c.-30G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:249:188:0:0:248,1:7842,11:901.63,0.06:527.20,0.06:374.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,51.0:0,0:0,0:59,89:90,53:33,0:NM_023007.2(JMJD4) c.32C>T (p.Ala11Val),NM_023007.2(JMJD4) c.32C>T (p.Ala11Val):1,1:0.999917,0.999917 1 227923201 . G . . NT END=227923414;NT GT ./. 1 227923432 . G . . NT END=227935392;NT GT ./. 1 227935280 rs2236361 C T 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.252,T/0.748;Gene=SNAP47/NM_053052.3/1;CC=c.91-113C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:52:0:0:31,24:987,689:0.00,63.94:0.00,61.36:0.00,2.57:0.00,1.00:0.00,1.00:0.00,0.97:60,60:7.1,59.0:0,0:0,0:32,35:117,116:26,22:-,NM_053052.3(SNAP47) c.91-113C>T:-,0.73:-,NOT_FOUND 1 227935355 rs2236360 T C 124 nt VT=SNV;PN=A;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.2538,C/0.7462;Gene=SNAP47/NM_053052.3/1;CC=c.91-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:104:90:0:0:44,60:1340,1887:124.07,0.00:94.01,0.00:30.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.0,5.0:0,0:0,0:70,52:79,95:38,28:NM_053052.3(SNAP47) c.91-38T>C,-:0.73,-:0.679456,- 1 227935444 rs2236359 A G 207 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=A/0.5807,G/0.4193;PC=1.000;Gene=SNAP47/NM_053052.3/1;CC=c.142A>G;ProtCh=p.R48G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:150:110:0:0:79,71:2620,2183:0.00,206.95:0.00,117.51:0.00,89.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,46.5:0,0:0,0:63,55:70,85:35,31:-,NM_053052.3(SNAP47) c.142A>G (p.Arg48Gly):-,0.42:-,0.421882 1 227935935 . G . . NT END=227946695;NT GT ./. 1 227946501 rs398069673 G GCC 18 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.2518,GCC/0.7482;DB;DBA=NA;PAF=G/0.2518,GCC/0.7482;NP=346;Gene=SNAP47/NM_053052.3/1;CC=c.633-194_633-193insCC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,GCC:17:17:6:0:11,6:373,200:0.00,18.07:0.00,16.31:0.00,1.76:0.00,0.95:0.00,0.95:0.00,0.57:60,60:16.5,2.2:0,0:0,0:38,50:113,99:22,36:-,NM_053052.3(SNAP47) c.633-195_633-194insCC:-,NOT_FOUND:-,NOT_FOUND 1 227947187 . G . . NT END=227954659;NT GT ./. 1 227954785 . G . . NT END=227955949;NT GT ./. 1 227956066 . G . . NT END=227963489;NT GT ./. 1 227963491 rs754224 G T 128 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.86,T/0.14;PC=0.001;Gene=SNAP47/NM_053052.3/1;CC=c.1249-4737G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:120:97:0:0:1,74,45:9,2254,1404:-0.19,0.00,127.63:-0.19,0.00,76.98:-0.01,0.00,50.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:136.0,6.5,45.5:0,0,0:0,0,0:102,53,61:49,89,87:0,29,27:-,NM_053052.3(SNAP47) c.1249-4737G>T:-,0.15:-,NOT_FOUND 1 227964399 rs1111046 T C 157 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.2648,C/0.7352;PC=0.011;Gene=SNAP47/NM_053052.3/1;CC=c.1249-3829T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:130:80:0:0:1,58,71:13,1684,2323:-0.09,157.27,0.00:-0.14,68.82,0.00:0.06,88.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:57.0,40.8,13.1:0,0,0:0,0,0:17,78,64:134,70,86:0,46,34:NM_053052.3(SNAP47) c.1249-3829T>C,-:0.72,-:NOT_FOUND,- 1 227964810 rs60071995 T TA 114 idl,rn VT=INS;SST=Single;DP=97;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=24;NP=270;PC=0.001;Gene=SNAP47/NM_053052.3/1;CC=c.1249-3408_1249-3407insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,TA,D:95:50:41:3:1,1,51,39,3:30,10,1552,1290,99:1.27,-0.12,0.00,114.24,6.12:-0.09,-0.09,0.00,41.38,0.87:1.35,-0.04,0.00,72.85,5.25:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,70,60:82.0,42.0,13.5,13.0,0.0:1,0,0,2,0:0,0,0,0,0:61,82,92,85,96:89,27,58,63,45:0,0,38,39,10:-,NM_053052.3(SNAP47) c.1249-3418_1249-3417insA:-,NOT_FOUND:-,NOT_FOUND 1 227964892 . c . . NT END=227968227;NT GT ./. 1 227964990 rs7522634 A G 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2514,G/0.7486;Gene=SNAP47/NM_053052.3/1;CC=c.1249-3238A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,G:14:0:0:0:5,9:165,318:0.00,32.13:0.00,0.00:0.00,32.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.0,62.8:0,0:0,0:92,92:58,57:7,22:-,NM_053052.3(SNAP47) c.1249-3238A>G:-,0.74:-,NOT_FOUND 1 227965016 rs2281708 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5417,T/0.4583;Gene=SNAP47/NM_053052.3/1;CC=c.1249-3212C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,T:12:0:0:0:5,7:158,237:0.00,23.50:0.00,0.00:0.00,23.50:0.00,0.99:0.00,0.00:0.00,0.99:60,60:12.0,71.0:0,0:0,0:118,115:32,33:7,19:-,NM_053052.3(SNAP47) c.1249-3212C>T:-,0.47:-,NOT_FOUND 1 227967938 rs10916207 G A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5313,A/0.4687;Gene=SNAP47/NM_053052.3/1;CC=c.1249-290G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:52.2:0:0:29:120:15:NM_053052.3(SNAP47) c.1249-290G>A,NM_053052.3(SNAP47) c.1249-290G>A:0.48,0.48:NOT_FOUND,NOT_FOUND 1 227968033 rs9786978 T C 39 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.251,C/0.749;Gene=SNAP47/NM_053052.3/1;CC=c.1249-195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:23:23:0:0:1,14,8:10,384,260:0.17,38.74,0.00:0.18,38.95,0.00:-0.01,-0.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.74,0.00:60,60,60:141.0,82.4,4.1:0,0,0:0,0,0:55,65,32:96,84,117:0,41,24:NM_053052.3(SNAP47) c.1249-195T>C,-:0.74,-:NOT_FOUND,- 1 227968107 rs10799448 G A 98 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.5345,A/0.4655;Gene=SNAP47/NM_053052.3/1;CC=c.1249-121G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:51:0:0:32,21:980,638:97.77,0.00:88.30,0.00:9.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.6,7.2:0,0:0,0:39,42:111,109:26,22:NM_053052.3(SNAP47) c.1249-121G>A,-:0.47,-:NOT_FOUND,- 1 227968375 . G . . NT END=228003417;NT GT ./. 1 228003247 rs10916214 G A 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8738,A/0.1262;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:7,9:220,269:20.59,0.00:20.59,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:35.7,12.4:0,0:0,0:37,54:114,97:17,16:NM_183062.2(PRSS38) c.1-u171G>A,-:0.14,-:NOT_FOUND,- 1 228003566 . G . . NT END=228003790;NT GT ./. 1 228003839 rs79840641 C T 138 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.8736,A/.,T/0.1264;PC=0.022;Gene=PRSS38/NM_183062.2/1;CC=c.197C>T;ProtCh=p.A66V;VC=Missense;DM=PRSS38/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:74:0:0:47,44:1591,1447:0.00,138.31:0.00,77.71:0.00,60.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,38.6:0,0:0,0:83,53:62,92:29,29:-,NM_183062.2(PRSS38) c.197C>T (p.Ala66Val):-,0.14:-,0.106121 1 228003954 . G . . NT END=228004909;NT GT ./. 1 228004140 rs10047088 T C 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.01997,C/0.98;Gene=PRSS38/NM_183062.2/1;CC=c.311+187T>C;VC=Intron;DM=PRSS38/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:0:0:0:12:399:45.62:0.00:45.62:1.00:0.00:1.00:60:40.8:0:0:98:52:18:NM_183062.2(PRSS38) c.311+187T>C,NM_183062.2(PRSS38) c.311+187T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 228005182 . G . . NT END=228033170;NT GT ./. 1 228033070 rs78839211 C A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8716,A/0.1284;Gene=PRSS38/NM_183062.2/1;CC=c.584-101C>A;VC=Intron;DM=PRSS38/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:20:19:0:0:12,8:320,273:31.79,0.00:24.55,0.00:7.23,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:60.2,24.6:0,0:0,0:45,49:104,100:31,24:NM_183062.2(PRSS38) c.584-101C>A,-:0.14,-:NOT_FOUND,- 1 228033197 rs9426581 A G 232 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.2027,G/0.7973,T/.;PC=0.006;Gene=PRSS38/NM_183062.2/1;CC=c.610A>G;ProtCh=p.M204V;VC=Missense;DM=PRSS38/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:G:62:51:0:0:62:2026:232.14:141.13:91.01:1.00:1.00:1.00:60:44.4:0:0:65:85:31:NM_183062.2(PRSS38) c.610A>G (p.Met204Val),NM_183062.2(PRSS38) c.610A>G (p.Met204Val):0.77,0.77:0.83769,0.83769 1 228033314 . G . . NT END=228033654;NT GT ./. 1 228033333 rs16848162 T A 125 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.8694,A/0.1306;Gene=PRSS38/NM_183062.2/1;CC=c.726+20T>A;VC=Intron;DM=PRSS38/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:60:40:0:0:37,23:1245,769:124.78,0.00:59.37,0.00:65.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,5.9:0,0:0,0:97,81:45,65:31,37:NM_183062.2(PRSS38) c.726+20T>A,-:0.15,-:0.10895,- 1 228033910 . G . . NT END=228109218;NT GT ./. 1 228090031 rs368685513 AGT A 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AGT/0.8656,A/0.1344;NP=41;PC=0.008;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:AGT,A:5:5:0:3:2,3:70,102:0.00,10.17:0.00,5.08:0.00,5.08:0.00,0.78:0.00,0.78:0.00,0.78:60,60:0.0,0.0:0,0:0,0:29,105:108,46:22,2:-,chr1 g.228090032_228090033delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 228107387 rs55730500 TAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.5118,T/0.4882;DB;DBA=NA;PAF=NA;NP=20;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:TAC,T:4:4:0:2:2,2:66,67:0.00,6.45:0.00,5.01:0.00,1.44:0.00,0.94:0.00,0.94:0.00,0.89:60,60:0.0,0.0:0,0:0,0:73,47:40,85:37,23:-,chr1 g.228107388_228107389delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 228109702 . C . . NT END=228111838;NT GT ./. 1 228111755 . G C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;Gene=WNT9A/NM_003395.2/1;CC=c.615+84C>G;VC=Intron;DM=WNT9A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,C,G,T:29:15:0:0:1,4,23,1:11,100,654,13:-0.01,7.04,0.00,0.12:0.23,8.07,0.00,0.36:-0.24,-1.03,0.00,-0.24:0.00,0.65,0.00,0.00:0.00,0.82,0.00,0.00:0.00,0.86,0.00,0.00:60,60,60,60:96.0,53.0,12.5,72.0:0,0,1,0:0,0,0,0:82,123,33,114:34,6,116,6:0,18,21,0:NM_003395.2(WNT9A) c.615+84C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 228112102 . C . . NT END=228112963;NT GT ./. 1 228112121 rs4653889 A G 232 nt VT=SNV;PN=G;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=A/0.4838,G/0.5162;PC=0.006;Gene=WNT9A/NM_003395.2/1;CC=c.353-20T>C;VC=Intron;DM=WNT9A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:138:56:0:0:64,74:1980,2383:0.00,232.21:0.00,61.51:0.00,170.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,38.1:0,0:0,0:78,73:54,69:38,31:-,NM_003395.2(WNT9A) c.353-20T>C:-,0.51:-,0.570198 1 228112280 rs10916245 T C 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.473,C/0.527;Gene=WNT9A/NM_003395.2/1;CC=c.353-179A>G;VC=Intron;DM=WNT9A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:10,10:246,320:23.22,0.00:0.00,0.00:23.22,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:27.6,12.5:0,0:0,0:89,91:60,60:34,31:NM_003395.2(WNT9A) c.353-179A>G,-:0.51,-:NOT_FOUND,- 1 228112732 rs115903339 G C 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9774,C/0.02256;Gene=WNT9A/NM_003395.2/1;CC=c.352+232C>G;VC=Intron;DM=WNT9A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,G:13:13:0:0:7,6:206,181:20.03,0.00:20.03,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:57.1,41.8:0,0:0,0:45,58:106,92:32,31:NM_003395.2(WNT9A) c.352+232C>G,-:0.03,-:NOT_FOUND,- 1 228112776 rs945701 A G 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.003395,C/.,G/0.9966;Gene=WNT9A/NM_003395.2/1;CC=c.352+188T>C;VC=Intron;DM=WNT9A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:585:67.52:67.52:0.00:1.00:1.00:0.00:60:56.9:0:0:57:92:37:NM_003395.2(WNT9A) c.352+188T>C,NM_003395.2(WNT9A) c.352+188T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 228113163 rs3795768 A G 353 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=236;DB;DBA=NA;PAF=A/0.3123,G/0.6877;Gene=WNT9A/NM_003395.2/1;CC=c.153T>C;ProtCh=p.A51=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:236:162:0:0:117,119:3972,3672:0.00,352.85:0.00,159.78:0.00,193.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,38.3:0,0:0,0:70,68:78,78:32,27:-,NM_003395.2(WNT9A) c.153T>C (p.(=)):-,0.68:-,0.753507 1 228113221 . C . . NT END=228135493;NT GT ./. 1 228135589 . C . . NT END=228155241;NT GT ./. 1 228156143 rs849896 G C 208 lc VT=SNV;PN=T;NN=T;SST=Single;DP=155;DB;DBA=NA;PAF=G/0.8159,C/0.1841;NP=31;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:155:88:0:0:1,69,84,1:8,2204,2602,25:-0.18,207.63,0.00,0.61:-0.11,116.05,0.00,0.72:-0.07,91.58,0.00,-0.11:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,40,40,40:8.0,47.3,16.2,92.0:0,0,0,0:0,0,0,0:84,81,75,123:67,68,75,28:0,34,39,0:XR_159117.1(LOC100996502) n.176G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 228156409 . C . . NT END=228156661;NT GT ./. 1 228156706 rs849895 G C 228 lc VT=SNV;PN=C;NN=A;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.4944,C/0.5056 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:149:109:0:0:72,77:2389,2472:228.46,0.00:112.97,0.00:115.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,60:38.2,11.0:0,0:0,0:81,76:60,71:27,29:XR_159117.1(LOC100996502) n.632+106G>C,-:NOT_FOUND,-:NOT_FOUND,- 1 228156758 . G . . NT END=228157622;NT GT ./. 1 228157170 rs862006 T G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5547,G/0.4453;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:G,T:5:4:0:0:3,2:90,66:8.97,0.00:5.81,0.00:3.15,0.00:0.78,0.00:0.97,0.00:0.73,0.00:49,44:35.7,0.0:0,0:0,0:102,10:48,140:33,9:XR_159117.1(LOC100996502) n.632+570T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 228157703 . G . . NT END=228157876;NT GT ./. 1 228158405 . G . . NT END=228158459;NT GT ./. 1 228158924 . G . . NT END=228159054;NT GT ./. 1 228158981 rs144686119 G T 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.9924,T/0.007588 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:77:44:0:0:42,35:1264,1058:0.00,99.40:0.00,48.85:0.00,50.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,44.5:0,0:0,0:51,89:99,61:36,32:-,chr1 g.228158980G>T (intergenic):-,0.01:-,NOT_FOUND 1 228159060 . G . . NT END=228194829;NT GT ./. 1 228160173 rs11584326 G A 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.8149,A/0.1851;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:28:0:0:23,20:754,617:73.47,0.00:29.63,0.00:43.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,2.4:0,0:0,0:72,67:73,74:35,43:chr1 g.228160172G>A (intergenic),-:0.24,-:NOT_FOUND,- 1 228160428 rs10916249 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8135,C/0.1865;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:8:0:0:0:4,4:92,137:8.62,0.00:0.00,0.00:8.62,0.00:0.87,0.00:0.00,0.00:0.87,0.00:40,40:43.8,0.0:0,0:0,0:94,130:57,20:14,6:chr1 g.228160427T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 228161413 rs621372 T C 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.4812,C/0.5188 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:20:0:0:15,16:421,500:39.82,0.00:20.81,0.00:19.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.3,27.2:0,0:0,0:56,94:93,57:35,30:chr1 g.228161412T>C (intergenic),-:0.49,-:NOT_FOUND,- 1 228161479 rs140622693 C T 58 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.9774,T/0.02256;PC=0.076 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:39:31:0:0:17,1,21:530,9,592:0.00,-0.01,57.80:0.00,0.03,41.65:0.00,-0.04,16.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,56,60:26.5,109.0,66.1:0,0,0:0,0,0:73,22,38:78,123,110:35,0,26:-,chr1 g.228161478C>T (intergenic):-,0.03:-,NOT_FOUND 1 228163187 . G T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:G,T:6:6:0:0:3,3:84,91:0.00,8.73:0.00,8.73:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:40,23:35.0,40.3:0,0:0,0:48,46:103,105:30,20:-,chr1 g.228163186G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 228194901 . G . . NT END=228210367;NT GT ./. 1 228210179 rs3094911 A G 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.3359,G/0.6641;PC=0.437;Gene=WNT3A/NM_033131.3/1;CC=c.72-189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:20:0:0:9,11:279,334:0.00,32.68:0.00,32.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.8,43.0:0,0:0,0:61,25:90,126:36,12:-,NM_033131.3(WNT3A) c.72-189A>G:-,0.65:-,NOT_FOUND 1 228210610 . G . . NT END=228238356;NT GT ./. 1 228238623 . G . . NT END=228246686;NT GT ./. 1 228247351 rs752107 T C 252 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=183;DB;DBA=NA;PAF=T/0.2228,C/0.7772,G/.;Gene=WNT3A/NM_033131.3/1;CC=c.*185T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:183:118:0:0:87,2,94:2649,33,3021:251.78,0.67,0.00:128.61,-0.16,0.00:123.16,0.83,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.7,106.0,13.3:0,0,0:0,0,0:62,148,73:87,-13,75:31,1,38:NM_033131.3(WNT3A) c.*185T>C,-:0.75,-:NOT_FOUND,- 1 228248006 . A . . NT END=228284815;NT GT ./. 1 228284964 . G . . NT END=228285042;NT GT ./. 1 228285154 . G . . NT END=228285291;NT GT ./. 1 228285417 . G . . NT END=228285552;NT GT ./. 1 228285715 . A . . NT END=228288831;NT GT ./. 1 228288896 rs79502515 C T 283 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=C/0.9924,T/0.007588;Gene=C1orf35/NM_024319.3/1;CC=c.728G>A;ProtCh=p.R243Q;VC=Missense;Gene=C1orf35/NR_130975.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:157:116:0:0:70,87:2148,2887:0.00,283.41:0.00,159.06:0.00,124.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,44.7:0,0:0,0:91,82:58,66:26,34:-,NM_024319.2(C1orf35) c.728G>A (p.Arg243Gln):-,0.01:-,0.023989 1 228288956 . C . . NT END=228289039;NT GT ./. 1 228289175 . C . . NT END=228289435;NT GT ./. 1 228289616 . C . . NT END=228289780;NT GT ./. 1 228289843 rs1128456 C T 150 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.9423,T/0.05771;Gene=C1orf35/NM_024319.3/1;CC=c.471G>A;ProtCh=p.G157=;VC=Silent;Gene=C1orf35/NR_130975.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:116:83:0:0:63,1,52:2050,9,1600:0.00,-0.18,150.40:0.00,-0.05,87.01:0.00,-0.13,63.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.4,9.0,41.3:0,0,0:0,0,0:68,137,73:71,13,62:38,0,30:-,NM_024319.2(C1orf35) c.471G>A (p.(=)):-,0.08:-,0.130795 1 228289867 . C . . NT END=228290010;NT GT ./. 1 228290084 . C . . NT END=228290178;NT GT ./. 1 228290262 . C . . NT END=228290343;NT GT ./. 1 228290390 . C . . NT END=228290599;NT GT ./. 1 228290751 . C . . NT END=228290834;NT GT ./. 1 228290929 . G . . NT END=228294460;NT GT ./. 1 228294300 rs12564763 T C 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4197,C/0.5803 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:11,7:357,235:35.72,0.00:35.72,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.1,5.6:0,0:0,0:63,81:88,70:43,20:NM_024319.2(C1orf35) c.-94-u3278A>G,-:0.56,-:NOT_FOUND,- 1 228294620 . C . . NT END=228295368;NT GT ./. 1 228295571 . C . . NT END=228295677;NT GT ./. 1 228295786 . C . . NT END=228295935;NT GT ./. 1 228295962 . T . . NT END=228328003;NT GT ./. 1 228328065 . G . . NT END=228328824;NT GT ./. 1 228328743 rs947086 T C 157 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.05391,C/0.9461;Gene=GUK1/NM_001242839.1/0;CC=c.-3+883T>C;VC=Intron;Gene=GUK1/NM_000858.5/1;CC=c.-167-82T>C;VC=Intron;Gene=GUK1/NM_001159390.1/0;CC=c.61+679T>C;VC=Intron;Gene=GUK1/NM_001242840.1/0;CC=c.61+679T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C:42:39:0:0:42:1370:156.93:135.56:21.37:1.00:1.00:1.00:60:40.8:0:0:55:95:37:NM_001242840.1(GUK1) c.61+679T>C,NM_001242840.1(GUK1) c.61+679T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 228328990 . G . . NT END=228329326;NT GT ./. 1 228329531 . G . . NT END=228332403;NT GT ./. 1 228332454 . G . . NT END=228333211;NT GT ./. 1 228333351 . G . . NT END=228333726;NT GT ./. 1 228333769 . G . . NT END=228334542;NT GT ./. 1 228334418 rs3216021 GAT G 30 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=GAT/0.7746,G/0.2254;NP=838;PC=0.006;Gene=GUK1/NM_001242839.1/0;CC=c.155-124_155-123delAT;VC=Intron;Gene=GUK1/NM_000858.5/1;CC=c.155-124_155-123delAT;VC=Intron;Gene=GUK1/NM_001159390.1/0;CC=c.218-124_218-123delAT;VC=Intron;Gene=GUK1/NM_001242840.1/0;CC=c.218-124_218-123delAT;VC=Intron;Gene=GUK1/NM_001159391.1/0;CC=c.155-124_155-123delAT;VC=Intron;DM=GUK1/Guanylate_kin;DM=GUK1/Guanylate_kin;DM=GUK1/Guanylate_kin;DM=GUK1/Guanylate_kin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:GAT,G:15:15:0:9:6,9:194,299:0.00,29.81:0.00,29.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.0,38.1:0,0:0,0:25,38:123,113:17,30:-,NM_001242840.1(GUK1) c.218-124_218-123delAT:-,0.25:-,NOT_FOUND 1 228334436 rs55873533 G A 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.8456,A/0.1544;Gene=GUK1/NM_001242839.1/0;CC=c.155-107G>A;VC=Intron;Gene=GUK1/NM_000858.5/1;CC=c.155-107G>A;VC=Intron;Gene=GUK1/NM_001159390.1/0;CC=c.218-107G>A;VC=Intron;Gene=GUK1/NM_001242840.1/0;CC=c.218-107G>A;VC=Intron;Gene=GUK1/NM_001159391.1/0;CC=c.155-107G>A;VC=Intron;DM=GUK1/Guanylate_kin;DM=GUK1/Guanylate_kin;DM=GUK1/Guanylate_kin;DM=GUK1/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:19:0:0:11,8:373,248:36.93,0.00:37.12,0.00:-0.19,0.00:1.00,0.00:1.00,0.00:0.72,0.00:60,60:37.2,22.5:0,0:0,0:53,20:98,130:30,13:NM_001242840.1(GUK1) c.218-107G>A,-:0.18,-:NOT_FOUND,- 1 228334640 . G . . NT END=228335106;NT GT ./. 1 228335246 . G . . NT END=228335315;NT GT ./. 1 228335401 . G . . NT END=228336071;NT GT ./. 1 228336158 . G . . NT END=228336365;NT GT ./. 1 228336554 . C . . NT END=228345459;NT GT ./. 1 228346780 . G . . NT END=228353517;NT GT ./. 1 228346936 rs45491398 G A 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9766,A/0.02336;Gene=GJC2/NM_020435.3/1;CC=c.*157G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:0:0:0:13,15:417,442:39.51,0.00:0.00,0.00:39.51,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.1,6.9:0,0:0,0:135,116:16,33:8,24:NM_020435.3(GJC2) c.*157G>A,-:0.04,-:NOT_FOUND,- 1 228353651 rs55873785 G C 250 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=169;DB;DBA=NA;PAF=G/0.644,C/0.356;Gene=IBA57/NM_001010867.3/1;CC=c.134G>C;ProtCh=p.G45A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:169:127:0:0:79,90:2633,2932:250.22,0.00:150.17,0.00:100.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,9.1:0,0:0,0:62,60:81,86:32,30:NM_001010867.2(IBA57) c.134G>C (p.Gly45Ala),-:0.34,-:NOT_FOUND,- 1 228353859 . G . . NT END=228362392;NT GT ./. 1 228362213 rs12141488 C G 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.06889,G/0.9311;PC=0.001;Gene=IBA57/NM_001010867.3/1;CC=c.342-180C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:G:13:12:0:3:13:348:40.81:36.73:4.08:1.00:1.00:1.00:60:46.6:0:0:30:120:16:NM_001010867.2(IBA57) c.342-180C>G,NM_001010867.2(IBA57) c.342-180C>G:0.93,0.93:NOT_FOUND,NOT_FOUND 1 228362682 rs2298014 G A 309 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=186;DB;DBA=NA;PAF=G/0.8431,A/0.1569;PC=0.003;Gene=IBA57/NM_001010867.3/1;CC=c.631G>A;ProtCh=p.G211S;VC=Missense;Gene=IBA57/NM_001310327.1/0;CC=c.52G>A;ProtCh=p.G18S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:186:91:0:0:99,87:3176,2639:308.97,0.00:108.43,0.00:200.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,12.9:0,0:0,0:93,82:55,61:33,40:NM_001010867.2(IBA57) c.631G>A (p.Gly211Ser),-:0.18,-:0.25694,- 1 228362731 . G . . NT END=228362822;NT GT ./. 1 228363215 . T . . NT END=228399484;NT GT ./. 1 228399482 rs11804508 C G 197 nt VT=SNV;PN=C;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.279,G/0.721;Gene=C1orf145/NR_073155.1/0;VC=NonCoding;Gene=C1orf145/NR_073154.1/0;VC=NonCoding;Gene=OBSCN/NM_052843.3/0;CC=c.-3C>G;VC=5UTR;Gene=OBSCN/NM_001098623.2/0;CC=c.-3C>G;VC=5UTR;Gene=OBSCN/NM_001271223.2/1;CC=c.-3C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:145:110:0:0:76,68,1:2354,2079,27:0.00,196.94,0.83:0.00,114.86,-0.14:0.00,82.09,0.96:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:21.6,43.5,58.0:0,0,0:0,0,0:55,67,23:95,79,128:38,36,0:-,NM_052843.3(OBSCN) c.-3C>G:-,0.7:-,0.634161 1 228399766 rs55971985 T C 254 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=190;DB;DBA=NA;PAF=T/0.2738,C/0.7262;Gene=C1orf145/NR_073155.1/0;VC=NonCoding;Gene=C1orf145/NR_073154.1/0;VC=NonCoding;Gene=OBSCN/NM_052843.3/0;CC=c.282T>C;ProtCh=p.A94=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.282T>C;ProtCh=p.A94=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.282T>C;ProtCh=p.A94=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:190:121:0:0:1,87,102:10,2695,3324:-0.17,254.36,0.00:-0.04,134.74,0.00:-0.13,119.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:81.0,38.6,7.8:0,0,0:0,0,0:42,78,77:109,70,65:0,37,41:NM_052843.3(OBSCN) c.282T>C (p.(=)),-:0.7,-:0.640864,- 1 228400473 . G . . NT END=228401141;NT GT ./. 1 228400646 rs3121192 T C 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.2804,C/0.7196;Gene=C1orf145/NR_073155.1/0;VC=NonCoding;Gene=C1orf145/NR_073154.1/0;VC=NonCoding;Gene=OBSCN/NM_052843.3/0;CC=c.988+174T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.988+174T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.988+174T>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:1:0:0:14,22:430,700:39.21,0.00:1.78,0.00:37.43,0.00:1.00,0.00:0.59,0.00:1.00,0.00:60,60:64.6,9.7:0,0:0,0:108,94:43,55:34,43:NM_052843.3(OBSCN) c.988+174T>C,-:0.69,-:NOT_FOUND,- 1 228400653 rs3121191 A T 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.2804,T/0.7196;Gene=C1orf145/NR_073155.1/0;VC=NonCoding;Gene=C1orf145/NR_073154.1/0;VC=NonCoding;Gene=OBSCN/NM_052843.3/0;CC=c.988+181A>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.988+181A>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.988+181A>T;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:35:1:0:0:20,15:525,395:0.00,36.25:0.00,1.80:0.00,34.45:0.00,1.00:0.00,0.62:0.00,1.00:60,60:10.8,63.5:0,0:0,0:79,115:71,36:41,35:-,NM_052843.3(OBSCN) c.988+181A>T:-,0.69:-,NOT_FOUND 1 228401412 . G . . NT END=228401874;NT GT ./. 1 228401556 rs3121190 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.28,G/0.72;PC=0.002;Gene=OBSCN/NM_052843.3/0;CC=c.1258+145A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.1258+145A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.1258+145A>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:8:6:0:0:3,5:90,150:0.00,15.09:0.00,12.04:0.00,3.05:0.00,0.97:0.00,1.00:0.00,0.88:60,60:37.3,113.4:0,0:0,0:116,72:11,79:25,44:-,NM_052843.3(OBSCN) c.1258+145A>G:-,0.69:-,NOT_FOUND 1 228401587 rs3121189 G T 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4121,T/0.5879;Gene=OBSCN/NM_052843.3/0;CC=c.1258+176G>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.1258+176G>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.1258+176G>T;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:G,T:7:6:0:0:3,4:99,85:0.00,8.27:0.00,8.64:0.00,-0.37:0.00,0.90:0.00,0.99:0.00,0.71:60,60:21.0,119.0:0,0:0,0:109,55:42,91:38,26:-,NM_052843.3(OBSCN) c.1258+176G>T:-,0.56:-,NOT_FOUND 1 228401588 rs3121188 A C 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4123,C/0.5877;Gene=OBSCN/NM_052843.3/0;CC=c.1258+177A>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.1258+177A>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.1258+177A>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C:8:7:0:0:4,4:88,117:0.00,11.21:0.00,11.51:0.00,-0.29:0.00,0.87:0.00,0.99:0.00,0.67:60,60:23.5,119.0:0,0:0,0:58,56:64,90:55,26:-,NM_052843.3(OBSCN) c.1258+177A>C:-,0.56:-,NOT_FOUND 1 228401632 rs2989563 G C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.28,C/0.72;Gene=OBSCN/NM_052843.3/0;CC=c.1258+221G>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.1258+221G>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.1258+221G>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:13:13:0:0:7,6:179,206:17.29,0.00:17.46,0.00:-0.17,0.00:0.99,0.00:0.99,0.00:0.69,0.00:60,60:81.7,5.2:0,0:0,0:51,18:100,132:45,15:NM_052843.3(OBSCN) c.1258+221G>C,-:0.68,-:NOT_FOUND,- 1 228402047 rs1620111 A G 286 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=186;DB;DBA=NA;PAF=A/0.2802,G/0.7198;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.1431A>G;ProtCh=p.L477=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.1431A>G;ProtCh=p.L477=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.1431A>G;ProtCh=p.L477=;VC=Silent;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:186:117:0:0:96,1,89:3002,14,2995:0.00,-0.08,286.37:0.00,0.06,125.33:0.00,-0.13,161.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.7,111.0,51.5:0,0,0:0,0,0:89,134,94:59,13,52:31,0,28:-,NM_052843.3(OBSCN) c.1431A>G (p.(=)):-,0.7:-,0.630541 1 228402121 rs1771487 A G 143 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.2804,C/.,G/0.7196;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.1505A>G;ProtCh=p.Q502R;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.1505A>G;ProtCh=p.Q502R;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.1505A>G;ProtCh=p.Q502R;VC=Missense;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:116:49:0:0:65,51:2140,1529:0.00,142.58:0.00,41.57:0.00,101.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,61.3:0,0:0,0:92,105:59,41:30,30:-,NM_052843.3(OBSCN) c.1505A>G (p.Gln502Arg):-,0.7:-,0.625665 1 228402136 . G . . NT END=228402490;NT GT ./. 1 228402283 rs1771486 C G 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.1326,G/0.8674;Gene=OBSCN/NM_052843.3/0;CC=c.1519+148C>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.1519+148C>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.1519+148C>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:9:0:0:31:937:108.40:33.07:75.33:1.00:1.00:1.00:60:41.3:0:0:67:84:48:NM_052843.3(OBSCN) c.1519+148C>G,NM_052843.3(OBSCN) c.1519+148C>G:0.88,0.88:NOT_FOUND,NOT_FOUND 1 228402508 rs2776853 C T 148 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.7242,T/0.2758;Gene=OBSCN/NM_052843.3/0;CC=c.1537C>T;ProtCh=p.L513=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.1537C>T;ProtCh=p.L513=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.1537C>T;ProtCh=p.L513=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:94:73:0:0:48,1,45:1532,10,1547:0.00,-0.12,148.21:0.00,-0.02,102.92:0.00,-0.10,45.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.5,101.0,45.9:0,0,0:0,0,0:48,54,56:95,96,95:22,0,32:-,NM_052843.3(OBSCN) c.1537C>T (p.(=)):-,0.3:-,0.372261 1 228402800 . G . . NT END=228403263;NT GT ./. 1 228402951 rs397983109 TG T 19 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=TG/0.4217,T/0.5783;DB;DBA=NA;PAF=TG/0.4217,T/0.5783;NP=160;Gene=OBSCN/NM_052843.3/0;CC=c.1828+155delG;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.1828+155delG;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.1828+155delG;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:20:1:0:7:13,7:417,212:0.00,18.92:0.00,3.12:0.00,15.80:0.00,0.97:0.00,0.57:0.00,1.00:60,60:3.8,2.7:0,0:0,0:116,138:35,12:12,6:-,NM_052843.3(OBSCN) c.1828+153delG:-,0.56:-,NOT_FOUND 1 228403531 . G . . NT END=228404121;NT GT ./. 1 228403897 rs6661539 T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7634,C/0.2366;Gene=OBSCN/NM_052843.3/0;CC=c.2096-225T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2096-225T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.2096-225T>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:C,T:12:11:0:0:4,8:123,247:10.89,0.00:11.07,0.00:-0.18,0.00:0.98,0.00:0.98,0.00:0.56,0.00:60,60:34.0,52.1:0,0:0,0:74,86:77,64:14,28:NM_052843.3(OBSCN) c.2096-225T>C,-:0.26,-:NOT_FOUND,- 1 228404404 . G . . NT END=228404713;NT GT ./. 1 228404668 rs3795777 T C 162 nt VT=SNV;PN=T;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.6635,C/0.3365;Gene=OBSCN/NM_052843.3/0;CC=c.2378-46T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2378-46T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.2378-46T>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:123:107:0:0:53,70:1736,2181:162.37,0.00:111.84,0.00:50.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,4.4:0,0:0,0:56,40:95,101:30,24:NM_052843.3(OBSCN) c.2378-46T>C,-:0.36,-:0.392163,- 1 228404990 . G . . NT END=228407024;NT GT ./. 1 228405118 rs5781507 G GA 69 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.009984,GA/0.99;DB;DBA=NA;PAF=G/0.009984,GA/0.99;DB;DBA=NA;PAF=G/0.009984,GA/0.99;NP=1242;Gene=OBSCN/NM_052843.3/0;CC=c.2653+139_2653+140insA;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2653+139_2653+140insA;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.2653+139_2653+140insA;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G,GA:27:1:21:0:2,4,21:68,123,636:5.36,0.00,68.71:0.00,0.00,3.47:5.36,0.00,65.24:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,60,60:45.5,19.0,19.9:2,0,0:0,0,0:29,144,109:121,5,42:3,4,20:-,NM_052843.3(OBSCN) c.2653+129_2653+130insA:-,NOT_FOUND:-,NOT_FOUND 1 228407010 rs1757158 C T 188 nt VT=SNV;PN=C;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=C/0.7147,A/.,G/.,T/0.2853;Gene=OBSCN/NM_052843.3/0;CC=c.2653+2021C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2653+2021C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.2654-15C>T;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:147:129:0:0:85,62:2642,2014:0.00,187.52:0.00,138.00:0.00,49.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,41.6:0,0:0,0:52,50:93,97:28,32:-,NM_052843.3(OBSCN) c.2653+2021C>T:-,0.3:-,NOT_FOUND 1 228407260 rs1771484 G A 254 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=G/0.7228,A/0.2772;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.2653+2271G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2653+2271G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.2889G>A;ProtCh=p.E963=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:185:97:0:0:83,1,101:2697,14,3327:254.19,-0.09,0.00:83.52,-0.08,0.00:170.67,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.0,230.0,7.2:0,0,0:0,0,0:88,49,89:57,102,58:31,0,35:NM_052843.3(OBSCN) c.2653+2271G>A,-:0.29,-:NOT_FOUND,- 1 228407301 . G . . NT END=228412159;NT GT ./. 1 228412106 rs1771482 T C 118 nt VT=SNV;PN=T;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.5879,C/0.4121;Gene=OBSCN/NM_052843.3/0;CC=c.2654-54T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2654-54T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.2930-54T>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:101:92:0:0:38,1,62:1286,12,1699:117.99,-0.11,0.00:93.04,-0.07,0.00:24.96,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.4,116.0,15.6:0,0,2:0,0,0:56,98,50:94,52,100:35,0,37:NM_052843.3(OBSCN) c.2654-54T>C,-:0.42,-:NOT_FOUND,- 1 228412227 rs1771480 T C 391 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=313;DB;DBA=NA;PAF=T/0.5875,C/0.4125;Gene=OBSCN/NM_052843.3/0;CC=c.2721T>C;ProtCh=p.S907=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.2721T>C;ProtCh=p.S907=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.2997T>C;ProtCh=p.S999=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:313:258:0:0:123,1,189:4232,10,5928:391.06,-0.21,0.00:257.30,-0.13,0.00:133.76,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:94.4,63.0,9.5:0,0,0:0,0,0:52,120,56:89,31,92:30,0,27:NM_052843.3(OBSCN) c.2721T>C (p.(=)),-:0.39,-:NOT_FOUND,- 1 228412228 rs1757153 G A 388 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=317;DB;DBA=NA;PAF=G/0.7159,A/0.2841;PC=0.998;Gene=OBSCN/NM_052843.3/0;CC=c.2722G>A;ProtCh=p.A908T;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.2722G>A;ProtCh=p.A908T;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.2998G>A;ProtCh=p.A1000T;VC=Missense;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:317:262:0:0:126,191:4201,6317:387.76,0.00:257.60,0.00:130.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.5,8.8:0,0:0,0:52,63:90,84:28,29:NM_052843.3(OBSCN) c.2722G>A (p.Ala908Thr),-:0.26,-:NOT_FOUND,- 1 228412308 rs1757152 G A 529 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=381;DB;DBA=NA;PAF=G/0.5875,A/0.4125;PC=0.005;Gene=OBSCN/NM_052843.3/0;CC=c.2802G>A;ProtCh=p.S934=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.2802G>A;ProtCh=p.S934=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.3078G>A;ProtCh=p.S1026=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:381:266:0:0:170,211:5619,6876:529.31,0.00:286.24,0.00:243.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.3,5.6:0,0:0,0:86,78:59,70:30,35:NM_052843.3(OBSCN) c.2802G>A (p.(=)),-:0.42,-:0.44714,- 1 228412436 . G . . NT END=228430883;NT GT ./. 1 228423795 rs2776856 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5865,G/0.4135;PC=0.256;Gene=OBSCN/NM_052843.3/0;CC=c.2930-7089A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2930-7089A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.3206-7089A>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:2:0:0:4:108:12.61:4.76:7.85:1.00:1.00:1.00:60:74.0:0:0:111:40:19:NM_052843.3(OBSCN) c.2930-7089A>G,NM_052843.3(OBSCN) c.2930-7089A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 228430697 rs1771456 A G 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3836,G/0.6164;PC=0.002;Gene=OBSCN/NM_052843.3/0;CC=c.2930-187A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.2930-187A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.3206-187A>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:17:17:0:0:6,11:178,355:0.00,35.98:0.00,35.98:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.0,39.8:0,0:0,0:20,26:130,125:6,17:-,NM_052843.3(OBSCN) c.2930-187A>G:-,0.63:-,NOT_FOUND 1 228431095 rs1771455 A G 224 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=A/0.3834,G/0.6166;Gene=OBSCN/NM_052843.3/0;CC=c.3141A>G;ProtCh=p.T1047=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.3141A>G;ProtCh=p.T1047=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.3417A>G;ProtCh=p.T1139=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:162:96:0:0:86,76:2908,2365:0.00,224.09:0.00,82.06:0.00,142.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,41.0:0,0:0,0:71,77:76,67:36,29:-,NM_052843.3(OBSCN) c.3141A>G (p.(=)):-,0.63:-,0.700254 1 228431160 . G . . NT END=228431996;NT GT ./. 1 228431235 rs11584385 G A 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.7865,A/0.2135;Gene=OBSCN/NM_052843.3/0;CC=c.3205+76G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.3205+76G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.3481+76G>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:6:0:0:18,34:514,1116:45.40,0.00:4.51,0.00:40.89,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:40.3,13.2:0,0:0,0:124,99:26,47:16,26:NM_052843.3(OBSCN) c.3205+76G>A,-:0.24,-:NOT_FOUND,- 1 228431930 rs10916293 C T 165 nt VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.3832,T/0.6168;Gene=OBSCN/NM_052843.3/0;CC=c.3206-67C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.3206-67C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.3482-67C>T;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:109:103:0:0:1,53,55:10,1699,1715:-0.12,0.00,165.25:-0.10,0.00,128.17:-0.01,0.00,37.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:94.0,12.6,39.9:0,0,0:0,0,0:68,40,38:69,109,111:0,25,17:-,NM_052843.3(OBSCN) c.3206-67C>T:-,0.63:-,NOT_FOUND 1 228432273 . G . . NT END=228433113;NT GT ./. 1 228432860 rs1757130 T C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.3832,C/0.6168;PC=0.004;Gene=OBSCN/NM_052843.3/0;CC=c.3482-254T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.3482-254T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.3758-254T>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:11:11:0:0:9,2:304,61:32.43,0.00:32.43,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.7,0.0:0,0:0,0:56,97:95,54:27,44:NM_052843.3(OBSCN) c.3482-254T>C,-:0.63,-:NOT_FOUND,- 1 228432987 rs1757129 G C 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.7202,C/0.2798;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.3482-127G>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.3482-127G>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.3758-127G>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:37:36:0:0:17,19,1:532,629,11:50.49,0.00,0.06:45.03,0.00,0.06:5.46,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.76,0.00,0.00:60,60,43:45.5,18.1,45.0:0,0,0:0,0,0:23,30,141:125,119,10:16,19,0:NM_052843.3(OBSCN) c.3482-127G>C,-:0.29,-:NOT_FOUND,- 1 228433217 rs2487384 A G 329 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=A/0.3834,G/0.6166;Gene=OBSCN/NM_052843.3/0;CC=c.3585A>G;ProtCh=p.T1195=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.3585A>G;ProtCh=p.T1195=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.3861A>G;ProtCh=p.T1287=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:235:183:0:0:122,113:4128,3460:0.00,328.98:0.00,192.41:0.00,136.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,36.2:0,0:0,0:63,56:86,92:28,29:-,NM_052843.3(OBSCN) c.3585A>G (p.(=)):-,0.62:-,0.69874 1 228433390 . G . . NT END=228434228;NT GT ./. 1 228433491 rs1888681 T C 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.3824,C/0.6176;Gene=OBSCN/NM_052843.3/0;CC=c.3757+102T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.3757+102T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4033+102T>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:1:0:0:32,24:889,759:87.45,0.00:1.77,0.00:85.69,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:61.8,14.6:0,0:0,0:115,99:34,51:27,27:NM_052843.3(OBSCN) c.3757+102T>C,-:0.63,-:NOT_FOUND,- 1 228433556 rs1888680 A T 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3373,T/0.6627;Gene=OBSCN/NM_052843.3/0;CC=c.3757+167A>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.3757+167A>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4033+167A>T;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:23:0:0:0:8,1,14:253,8,422:0.00,0.06,42.61:0.00,0.00,0.00:0.00,0.06,42.61:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:33.8,237.0,91.0:0,0,0:0,0,0:81,6,114:68,145,36:51,0,17:-,NM_052843.3(OBSCN) c.3757+167A>T:-,0.67:-,NOT_FOUND 1 228433769 rs6426493 A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3824,G/0.6176;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.3757+380A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.3757+380A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4033+380A>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,G:4:0:0:0:2,2:43,67:0.00,6.47:0.00,0.00:0.00,6.47:0.00,0.94:0.00,0.00:0.00,0.94:60,60:55.5,56.0:0,0:0,0:75,126:75,24:57,10:-,NM_052843.3(OBSCN) c.3757+380A>G:-,0.63:-,NOT_FOUND 1 228434395 rs7517088 T C 305 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=243;DB;DBA=NA;PAF=T/0.3824,C/0.6176;Gene=OBSCN/NM_052843.3/0;CC=c.3924T>C;ProtCh=p.A1308=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.3924T>C;ProtCh=p.A1308=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.4200T>C;ProtCh=p.A1400=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:243:144:0:0:2,108,2,131:18,3251,38,4355:-0.32,304.93,1.16,0.00:-0.14,124.19,-0.15,0.00:-0.17,180.74,1.31,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:49.5,50.3,24.5,5.2:0,0,0,0:0,0,0,0:67,89,107,85:84,61,43,59:17,29,14,33:NM_052843.3(OBSCN) c.3924T>C (p.(=)),-:0.63,-:0.698947,- 1 228434467 rs7517108 T C 229 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=T/0.3375,C/0.6625;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.3996T>C;ProtCh=p.A1332=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.3996T>C;ProtCh=p.A1332=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.4272T>C;ProtCh=p.A1424=;VC=Silent;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:172:69:0:0:82,90:2414,2994:228.68,0.00:59.18,0.00:169.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.6,5.5:0,0:0,0:84,93:59,55:28,30:NM_052843.3(OBSCN) c.3996T>C (p.(=)),-:0.67,-:0.729456,- 1 228434505 . G . . NT END=228437665;NT GT ./. 1 228434602 rs1411915 A T 69 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.3359,T/0.6641;Gene=OBSCN/NM_052843.3/0;CC=c.4033+98A>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4033+98A>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4309+98A>T;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:4:0:0:22,24:674,719:0.00,69.45:0.00,2.86:0.00,66.59:0.00,1.00:0.00,0.95:0.00,1.00:60,60:0.5,43.0:0,0:0,0:113,101:37,50:26,34:-,NM_052843.3(OBSCN) c.4033+98A>T:-,0.67:-,NOT_FOUND 1 228437603 rs6426494 T C 192 nt VT=SNV;PN=T;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=T/0.3363,C/0.6637;Gene=OBSCN/NM_052843.3/0;CC=c.4034-63T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4034-63T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4310-63T>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:129:125:0:0:62,67:2011,2068:191.89,0.00:178.02,0.00:13.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.1,7.9:0,0:0,0:56,43:95,105:35,25:NM_052843.3(OBSCN) c.4034-63T>C,-:0.67,-:NOT_FOUND,- 1 228437942 . G . . NT END=228444351;NT GT ./. 1 228444297 rs7532141 T G 76 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.8403,G/0.1597;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.4310-55T>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4310-55T>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4586-55T>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:61:57:0:0:26,35:819,990:76.28,0.00:70.31,0.00:5.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.0,15.5:0,0:0,0:46,43:104,108:31,17:NM_052843.3(OBSCN) c.4310-55T>G,-:0.19,-:NOT_FOUND,- 1 228444318 rs7532144 T G 96 nt VT=SNV;PN=G;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.383,G/0.617;Gene=OBSCN/NM_052843.3/0;CC=c.4310-34T>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4310-34T>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4586-34T>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:73:65:0:0:33,40:1016,1146:95.54,0.00:82.05,0.00:13.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.8,13.6:0,0:0,0:42,55:107,95:29,25:NM_052843.3(OBSCN) c.4310-34T>G,-:0.63,-:0.69921,- 1 228444565 rs7532342 T A 764 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=3435;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.4523T>A;ProtCh=p.V1508D;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.4523T>A;ProtCh=p.V1508D;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.4799T>A;ProtCh=p.V1600D;VC=Missense;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:215:135:0:0:214,1:6633,17:764.36,0.24:339.55,0.00:424.81,0.24:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,107.0:0,0:0,0:88,90:59,33:34,0:NM_052843.3(OBSCN) c.4523T>A (p.Val1508Asp),NM_052843.3(OBSCN) c.4523T>A (p.Val1508Asp):1,1:NOT_FOUND,NOT_FOUND 1 228444628 . G . . NT END=228447201;NT GT ./. 1 228444741 rs3795780 C T 69 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.383,T/0.617;Gene=OBSCN/NM_052843.3/0;CC=c.4585+114C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4585+114C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4861+114C>T;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:2:0:0:27,24:872,724:0.00,68.53:0.00,3.50:0.00,65.03:0.00,1.00:0.00,0.77:0.00,1.00:60,60:12.0,43.1:0,0:0,0:107,101:44,49:24,30:-,NM_052843.3(OBSCN) c.4585+114C>T:-,0.63:-,NOT_FOUND 1 228444808 rs60268722 A AG 85 sb,nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=831;Gene=OBSCN/NM_052843.3/0;CC=c.4585+183dupG;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4585+183dupG;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.4861+183dupG;VC=Intron;DM=OBSCN/I-set;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A,AG:25:1:24:0:1,24:30,755:0.00,85.11:0.00,1.93:0.00,83.18:0.00,1.00:0.00,0.97:0.00,1.00:60,60:31.0,16.2:0,0:0,0:147,92:3,58:0,36:NM_052843.3(OBSCN) c.4585+181_4585+182insG,NM_052843.3(OBSCN) c.4585+181_4585+182insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 228447478 . G . . NT END=228451816;NT GT ./. 1 228447513 rs7525075 T G 211 nt VT=SNV;PN=G;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.7031,G/0.2969;Gene=OBSCN/NM_052843.3/0;CC=c.4585+2886T>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4585+2886T>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.5137+36T>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:122:36:0:0:66,56:2161,1721:211.04,0.00:32.99,0.00:178.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.2,11.1:0,0:0,0:103,93:43,54:26,26:NM_052843.3(OBSCN) c.4585+2886T>G,-:0.31,-:0.38699,- 1 228447519 rs7525078 T A 191 nt VT=SNV;PN=G;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.7031,A/0.2969;Gene=OBSCN/NM_052843.3/0;CC=c.4585+2892T>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4585+2892T>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.5137+42T>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:115:34:0:0:62,53:1958,1623:190.91,0.00:33.46,0.00:157.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.0,9.8:0,0:0,0:109,87:37,59:29,28:NM_052843.3(OBSCN) c.4585+2892T>A,-:0.31,-:0.38699,- 1 228451562 rs4653545 C G 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7841,G/0.2159;Gene=OBSCN/NM_052843.3/0;CC=c.4586-255C>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4586-255C>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.5138-255C>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,G:15:15:0:0:4,11:131,333:0.00,34.77:0.00,34.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.5,44.6:0,0:0,0:18,40:132,111:5,16:-,NM_052843.3(OBSCN) c.4586-255C>G:-,0.25:-,NOT_FOUND 1 228452093 . G . . NT END=228456230;NT GT ./. 1 228452334 rs512406 A G 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7021,G/0.2979;Gene=OBSCN/NM_052843.3/0;CC=c.4861+242A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4861+242A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.5413+242A>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:13:0:0:0:3,10:75,317:0.00,33.40:0.00,0.00:0.00,33.40:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.0,32.9:0,0:0,0:124,98:26,51:17,39:-,NM_052843.3(OBSCN) c.4861+242A>G:-,0.31:-,NOT_FOUND 1 228455937 rs489926 T C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7157,C/0.2843;Gene=OBSCN/NM_052843.3/0;CC=c.4862-294T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4862-294T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.5414-294T>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:5:5:0:0:4,1:115,31:12.31,0.00:12.31,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:33.8,0.0:0,0:0,0:38,20:111,131:7,0:NM_052843.3(OBSCN) c.4862-294T>C,-:0.3,-:NOT_FOUND,- 1 228456147 rs878388 T C 121 nt VT=SNV;PN=T;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.3289,C/0.6711;Gene=OBSCN/NM_052843.3/0;CC=c.4862-84T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.4862-84T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.5414-84T>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:67:0:0:40,30:1229,895:121.19,0.00:111.89,0.00:9.30,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:42.8,12.0:0,0:0,0:39,30:109,120:24,21:NM_052843.3(OBSCN) c.4862-84T>C,-:0.69,-:NOT_FOUND,- 1 228456382 rs199646052 A C 399 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=310;DB;DBA=NA;PAF=A/0.9994,C/0.000599;NP=13;Gene=OBSCN/NM_052843.3/0;CC=c.5013A>C;ProtCh=p.K1671N;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.5013A>C;ProtCh=p.K1671N;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.5565A>C;ProtCh=p.K1855N;VC=Missense;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:310:186:0:0:168,142:5587,4243:0.00,398.66:0.00,177.47:0.00,221.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,42.6:0,0:0,0:79,81:66,67:30,33:-,NM_052843.3(OBSCN) c.5013A>C (p.Lys1671Asn):-,NOT_FOUND:-,0.001354 1 228456507 . G . . NT END=228459625;NT GT ./. 1 228456738 rs61825279 A C 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8419,C/0.1581;Gene=OBSCN/NM_052843.3/0;CC=c.5137+232A>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.5137+232A>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.5689+232A>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,C:9:0:0:0:2,7:56,237:0.00,24.97:0.00,0.00:0.00,24.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.5,45.3:0,0:0,0:120,123:30,27:10,13:-,NM_052843.3(OBSCN) c.5137+232A>C:-,0.19:-,NOT_FOUND 1 228459923 . G . . NT END=228460972;NT GT ./. 1 228461129 rs1188724 A G 272 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=172;DB;DBA=NA;PAF=A/0.3065,G/0.6935;Gene=OBSCN/NM_052843.3/0;CC=c.5138-342A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.5138-342A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.6143A>G;ProtCh=p.H2048R;VC=Missense;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:172:118:0:0:81,91:2604,2813:0.00,272.36:0.00,130.10:0.00,142.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,43.4:0,0:0,0:76,79:69,70:26,42:-,NM_052843.3(OBSCN) c.5138-342A>G:-,0.72:-,0.735737 1 228461249 . G . . NT END=228461470;NT GT ./. 1 228461408 rs397701959 A AG 201 nt VT=INS;SST=Single;DP=62;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3092;Gene=OBSCN/NM_052843.3/0;CC=c.5138-60dupG;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.5138-60dupG;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.6263-60dupG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A,G,AG:62:44:57:0:4,1,57:79,31,1801:0.00,1.76,201.05:0.00,1.77,127.88:0.00,-0.01,73.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.2,31.0,4.2:2,0,0:0,0,0:105,1,40:43,150,109:41,0,30:NM_052843.3(OBSCN) c.5138-63_5138-62insG,NM_052843.3(OBSCN) c.5138-63_5138-62insG:1,1:NOT_FOUND,NOT_FOUND 1 228461750 . G . . NT END=228461878;NT GT ./. 1 228462146 . G . . NT END=228462272;NT GT ./. 1 228462543 . G . . NT END=228463460;NT GT ./. 1 228463292 rs4065229 G A 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.6757,A/0.3243;Gene=OBSCN/NM_052843.3/0;CC=c.5954-169G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.5954-169G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.7079-169G>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:11,12:319,286:30.29,0.00:30.29,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:31.6,35.7:0,0:0,0:31,16:120,135:15,14:NM_052843.3(OBSCN) c.5954-169G>A,-:0.35,-:NOT_FOUND,- 1 228463728 . G . . NT END=228464150;NT GT ./. 1 228464248 rs1188721 T G 223 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=T/0.3045,G/0.6955;PC=0.129;Gene=OBSCN/NM_052843.3/0;CC=c.6318T>G;ProtCh=p.D2106E;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.6318T>G;ProtCh=p.D2106E;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.7443T>G;ProtCh=p.D2481E;VC=Missense;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:148:95:0:0:71,77:2335,2389:222.94,0.00:112.85,0.00:110.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.2,9.5:0,0:0,0:91,75:54,76:43,33:NM_052843.3(OBSCN) c.6318T>G (p.Asp2106Glu),-:0.72,-:0.738366,- 1 228464276 rs1188722 T C 202 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=T/0.3365,C/0.6635;PC=0.996;Gene=OBSCN/NM_052843.3/0;CC=c.6346T>C;ProtCh=p.F2116L;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.6346T>C;ProtCh=p.F2116L;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.7471T>C;ProtCh=p.F2491L;VC=Missense;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:138:79:0:0:65,1,72:2122,10,2176:202.00,-0.15,0.00:86.30,-0.02,0.00:115.70,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.0,154.0,6.7:0,0,0:0,0,0:71,115,90:72,36,55:40,0,32:NM_052843.3(OBSCN) c.6346T>C (p.Phe2116Leu),-:0.69,-:0.708851,- 1 228464418 . G . . NT END=228464630;NT GT ./. 1 228464744 . G . . NT END=228464860;NT GT ./. 1 228464842 rs936885 C G 137 nt VT=SNV;PN=T;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.3063,G/0.6937;Gene=OBSCN/NM_052843.3/0;CC=c.6601-19C>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.6601-19C>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.7726-19C>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:92:73:0:0:49,43:1603,1441:0.00,136.98:0.00,101.37:0.00,35.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,34.9:0,0:0,0:58,71:92,79:36,25:-,NM_052843.3(OBSCN) c.6601-19C>G:-,0.72:-,0.738689 1 228465015 . G . . NT END=228465205;NT GT ./. 1 228465346 rs493945 A G 155 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.6699,G/0.3301;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.6755-109A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.6755-109A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.8020A>G;ProtCh=p.N2674D;VC=Missense;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:117:70:0:0:66,51:2103,1651:0.00,154.55:0.00,62.78:0.00,91.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,65.1:0,0:0,0:79,68:64,80:26,42:-,NM_052843.3(OBSCN) c.6755-109A>G:-,0.37:-,NOT_FOUND 1 228465368 . G . . NT END=228465454;NT GT ./. 1 228465370 rs867599 T G 142 nt VT=SNV;PN=T;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.3305,G/0.6695;PC=0.005;Gene=OBSCN/NM_052843.3/0;CC=c.6755-85T>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.6755-85T>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.8041+3T>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:103:56:0:0:44,59:1513,1868:141.76,0.00:53.04,0.00:88.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.6,12.1:0,0:0,0:82,93:66,53:29,28:NM_052843.3(OBSCN) c.6755-85T>G,-:0.69,-:NOT_FOUND,- 1 228465560 . G . . NT END=228466389;NT GT ./. 1 228465674 rs2307995 C CAAG 27 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4227,CAAG/0.5773;NP=1;NP=866;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.6859+116_6859+117insAGA;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.6859+116_6859+117insAGA;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.8146+116_8146+117insAGA;VC=Intron;DM=OBSCN/I-set;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAAG:21:0:9:0:12,9:396,293:0.00,27.37:0.00,0.00:0.00,27.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.4,13.7:0,0:0,0:110,100:41,51:13,26:-,NM_052843.3(OBSCN) c.6859+115_6859+116insAAG:-,0.57:-,NOT_FOUND 1 228466657 . G . . NT END=228466875;NT GT ./. 1 228466750 rs3795782 T C 95 nt VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.7594,C/0.2406;Gene=OBSCN/NM_052843.3/0;CC=c.7126+94T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.7126+94T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.8413+94T>C;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:26:0:0:33,33:987,1054:94.54,0.00:44.91,0.00:49.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,8.2:0,0:0,0:76,77:75,74:51,42:NM_052843.3(OBSCN) c.7126+94T>C,-:0.27,-:NOT_FOUND,- 1 228467146 . G . . NT END=228467521;NT GT ./. 1 228467789 . G . . NT END=228467879;NT GT ./. 1 228468147 . G . . NT END=228468230;NT GT ./. 1 228468498 . G . . NT END=228469633;NT GT ./. 1 228468566 rs4653934 A G 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.7602,G/0.2398;Gene=OBSCN/NM_052843.3/0;CC=c.8197+69A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.8197+69A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.9484+69A>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:6:0:0:21,17:710,538:0.00,50.56:0.00,2.86:0.00,47.70:0.00,1.00:0.00,0.96:0.00,1.00:60,60:11.1,41.6:0,0:0,0:89,106:62,45:32,14:-,NM_052843.3(OBSCN) c.8197+69A>G:-,0.27:-,NOT_FOUND 1 228469343 rs200035807 G GA 29 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;Gene=OBSCN/NM_052843.3/0;CC=c.8198-291_8198-290insA;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.8198-291_8198-290insA;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.9485-291_9485-290insA;VC=Intron;DM=OBSCN/I-set;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:GA:8:8:8:0:8:256:29.41:29.41:0.00:1.00:1.00:0.00:70:13.6:0:0:31:119:24:NM_052843.3(OBSCN) c.8198-291_8198-290insA,NM_052843.3(OBSCN) c.8198-291_8198-290insA:1,1:NOT_FOUND,NOT_FOUND 1 228469432 rs79292090 C T 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.9742,T/0.02576;Gene=OBSCN/NM_052843.3/0;CC=c.8198-202C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.8198-202C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.9485-202C>T;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:10,15:337,473:0.00,47.15:0.00,47.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:23.9,43.9:0,0:0,0:48,42:96,109:36,30:-,NM_052843.3(OBSCN) c.8198-202C>T:-,0.02:-,NOT_FOUND 1 228469907 . G . . NT END=228470718;NT GT ./. 1 228470986 . G . . NT END=228471203;NT GT ./. 1 228471046 rs41303079 C T 130 nt VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.8526,T/0.1474;Gene=OBSCN/NM_052843.3/0;CC=c.8737+61C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.8737+61C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.10024+61C>T;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:45:0:0:36,45:987,1330:0.00,130.33:0.00,73.71:0.00,56.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,37.8:0,0:0,0:78,92:68,58:32,43:-,NM_052843.3(OBSCN) c.8737+61C>T:-,0.18:-,NOT_FOUND 1 228471379 rs56168609 G C 242 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=G/0.7698,C/0.2302;PC=0.022;Gene=OBSCN/NM_052843.3/0;CC=c.8913G>C;ProtCh=p.R2971=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.8913G>C;ProtCh=p.R2971=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.10200G>C;ProtCh=p.R3400=;VC=Silent;DM=OBSCN/RhoGEF;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:155:99:0:0:77,78:2518,2517:241.79,0.00:135.71,0.00:106.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,9.5:0,0:0,0:84,79:65,71:25,36:NM_052843.3(OBSCN) c.8913G>C (p.(=)),-:0.26,-:0.327573,- 1 228471471 . G . . NT END=228473778;NT GT ./. 1 228473600 rs1150907 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6174,G/0.3826;PC=0.002;Gene=OBSCN/NM_052843.3/0;CC=c.9005-179A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.9005-179A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.10292-179A>G;VC=Intron;DM=OBSCN/RhoGEF;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,C,G:15:15:0:0:6,1,8:172,13,269:0.00,0.50,26.55:0.00,0.50,26.55:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:44.2,55.0,41.0:0,0,0:0,0,0:49,2,27:102,149,124:22,0,26:-,NM_052843.3(OBSCN) c.9005-179A>G:-,0.39:-,NOT_FOUND 1 228474052 . G . . NT END=228474473;NT GT ./. 1 228474741 . G . . NT END=228475394;NT GT ./. 1 228475016 rs9426532 G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.632,A/0.368;Gene=OBSCN/NM_052843.3/0;CC=c.9544+276G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.9544+276G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.10831+276G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:4:0:0:0:2,2:68,65:6.55,0.00:0.00,0.00:6.55,0.00:0.94,0.00:0.00,0.00:0.94,0.00:60,60:34.0,54.5:0,0:0,0:64,141:86,8:17,9:NM_052843.3(OBSCN) c.9544+276G>A,-:0.38,-:NOT_FOUND,- 1 228475662 . G . . NT END=228475761;NT GT ./. 1 228476026 . G . . NT END=228476325;NT GT ./. 1 228476590 . G . . NT END=228479598;NT GT ./. 1 228479863 . G . . NT END=228480223;NT GT ./. 1 228480282 rs1150908 A G 234 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=A/0.3011,G/0.6989;Gene=OBSCN/NM_052843.3/0;CC=c.10662A>G;ProtCh=p.T3554=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.10662A>G;ProtCh=p.T3554=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.11949A>G;ProtCh=p.T3983=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:146:121:0:0:65,81:2213,2388:0.00,233.61:0.00,162.00:0.00,71.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,39.5:0,0:0,0:62,46:83,105:30,31:-,NM_052843.3(OBSCN) c.10662A>G (p.(=)):-,0.73:-,0.743825 1 228480488 . G . . NT END=228481053;NT GT ./. 1 228480964 rs10158357 A G 83 nt VT=SNV;PN=G;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.6196,G/0.3804;Gene=OBSCN/NM_052843.3/0;CC=c.10868-90A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.10868-90A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.12155-90A>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:51:0:0:23,28:748,853:0.00,83.36:0.00,78.68:0.00,4.68:0.00,1.00:0.00,1.00:0.00,0.98:60,60:2.7,50.7:0,0:0,0:29,52:122,96:24,26:-,NM_052843.3(OBSCN) c.10868-90A>G:-,0.43:-,NOT_FOUND 1 228481318 . G . . NT END=228481852;NT GT ./. 1 228482010 rs449133 C T 303 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=184;DB;DBA=NA;PAF=C/0.618,T/0.382;Gene=OBSCN/NM_052843.3/0;CC=c.11289C>T;ProtCh=p.D3763=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.11289C>T;ProtCh=p.D3763=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.12576C>T;ProtCh=p.D4192=;VC=Silent;DM=OBSCN/Pkinase;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:184:127:0:0:88,96:2782,3120:0.00,302.57:0.00,139.79:0.00,162.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,63.0:0,0:0,0:86,62:58,88:33,31:-,NM_052843.3(OBSCN) c.11289C>T (p.(=)):-,0.39:-,0.468067 1 228482059 rs56218706 G A 325 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.992,A/0.007987;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.11338G>A;ProtCh=p.G3780R;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.11338G>A;ProtCh=p.G3780R;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.12625G>A;ProtCh=p.G4209R;VC=Missense;DM=OBSCN/Pkinase;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:196:120:0:0:100,1,95:3355,5,2918:324.61,-0.19,0.00:126.68,-0.09,0.00:197.93,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:62.0,77.0,8.3:0,0,0:0,0,0:75,44,53:68,106,96:34,0,32:NM_052843.3(OBSCN) c.11338G>A (p.Gly3780Arg),-:0.01,-:0.030456,- 1 228482117 . G . . NT END=228482480;NT GT ./. 1 228482285 rs1150909 T C 54 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.3013,C/0.6987;Gene=OBSCN/NM_052843.3/0;CC=c.11395+169T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.11395+169T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.12682+169T>C;VC=Intron;DM=OBSCN/Pkinase;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:17:0:0:19,30:593,869:54.17,0.00:16.34,0.00:37.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,18.6:0,0:0,0:78,81:72,69:48,36:NM_052843.3(OBSCN) c.11395+169T>C,-:0.73,-:NOT_FOUND,- 1 228482745 . G . . NT END=228486154;NT GT ./. 1 228486419 . G . . NT END=228486959;NT GT ./. 1 228486784 rs287613 G A 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4048,A/0.5952;Gene=OBSCN/NM_052843.3/0;CC=c.11659+4040G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.11659+4040G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.13211-176G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:11,9:354,198:34.73,0.00:34.73,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.2,3.4:0,0:0,0:41,27:109,124:22,24:NM_052843.3(OBSCN) c.11659+4040G>A,-:0.61,-:NOT_FOUND,- 1 228487224 . G . . NT END=228487582;NT GT ./. 1 228487847 . G . . NT END=228491375;NT GT ./. 1 228491207 rs536515 C A 56 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6707,A/0.3293;PC=0.260;Gene=OBSCN/NM_052843.3/0;CC=c.11660-2866C>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.11660-2866C>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.13739-169C>A;VC=Intron;DM=OBSCN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:27:0:0:19,18:584,574:56.34,0.00:33.82,0.00:22.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,20.6:0,0:0,0:66,45:85,92:39,24:NM_052843.3(OBSCN) c.11660-2866C>A,-:0.35,-:NOT_FOUND,- 1 228491640 . G . . NT END=228492003;NT GT ./. 1 228492044 rs1150910 G A 218 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=G/0.6308,A/0.3692;PC=0.982;Gene=OBSCN/NM_052843.3/0;CC=c.11660-2029G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.11660-2029G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.14043G>A;ProtCh=p.E4681=;VC=Silent;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:142:114:0:0:71,71:2272,2274:218.27,0.00:141.06,0.00:77.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,5.9:0,0:0,0:51,75:92,74:29,34:NM_052843.3(OBSCN) c.11660-2029G>A,-:0.38,-:0.45361,- 1 228492268 . G . . NT END=228492823;NT GT ./. 1 228493088 . G . . NT END=228494072;NT GT ./. 1 228494340 . G . . NT END=228494601;NT GT ./. 1 228494382 rs1150911 T G 125 nt VT=SNV;PN=C;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;Gene=OBSCN/NM_052843.3/0;CC=c.11926+43T>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.11926+43T>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.14797+43T>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:83:38:0:0:43,40:1299,1303:125.10,0.00:52.26,0.00:72.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,4.3:0,0:0,0:92,110:51,40:40,30:NM_052843.3(OBSCN) c.11926+43T>G,-:NOT_FOUND,-:0.646116,- 1 228494790 rs435776 G A 410 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=211;DB;DBA=NA;PAF=G/0.7314,A/0.2686;Gene=OBSCN/NM_052843.3/0;CC=c.12115G>A;ProtCh=p.G4039R;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.12115G>A;ProtCh=p.G4039R;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.14986G>A;ProtCh=p.G4996R;VC=Missense;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:211:156:0:0:126,85:4117,2525:410.13,0.00:239.76,0.00:170.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.0,10.7:0,1:0,0:65,61:81,85:34,38:NM_052843.3(OBSCN) c.12115G>A (p.Gly4039Arg),-:0.3,-:0.366296,- 1 228494869 . G . . NT END=228494959;NT GT ./. 1 228495233 . G . . NT END=228495811;NT GT ./. 1 228495664 rs419338 T A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.3013,A/0.6987;Gene=OBSCN/NM_052843.3/0;CC=c.12467-148T>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.12467-148T>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.15338-148T>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:24:0:0:8,16:276,491:24.79,0.00:24.79,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:74.0,16.0:0,0:0,0:43,29:108,120:18,16:NM_052843.3(OBSCN) c.12467-148T>A,-:0.73,-:NOT_FOUND,- 1 228495696 rs419173 T C 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2995,C/0.7005;Gene=OBSCN/NM_052843.3/0;CC=c.12467-116T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.12467-116T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.15338-116T>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:31:0:0:11,20:330,657:29.49,0.00:27.87,0.00:1.62,0.00:1.00,0.00:1.00,0.00:0.65,0.00:60,60:60.9,12.8:0,0:0,0:48,50:103,98:33,25:NM_052843.3(OBSCN) c.12467-116T>C,-:0.73,-:NOT_FOUND,- 1 228496121 . G . . NT END=228496799;NT GT ./. 1 228496997 . G . . NT END=228497184;NT GT ./. 1 228497053 rs379620 A G 111 nt VT=SNV;PN=G;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.3013,G/0.6987;Gene=OBSCN/NM_052843.3/0;CC=c.12936+57A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.12936+57A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.15807+57A>G;VC=Intron;DM=OBSCN/I-set;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:65:32:0:0:29,35,1:850,1138,9:0.00,111.32,-0.08:0.00,28.01,0.02:0.00,83.31,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.3,43.1,27.0:0,0,0:0,0,0:111,85,73:39,66,78:24,32,0:-,NM_052843.3(OBSCN) c.12936+57A>G:-,0.71:-,NOT_FOUND 1 228497261 . G . . NT END=228501314;NT GT ./. 1 228497470 rs378090 A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2997,G/0.7003;Gene=OBSCN/NM_052843.3/0;CC=c.13012+210A>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.13012+210A>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.15883+210A>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:7:0:0:0:3,4:99,130:0.00,12.83:0.00,0.00:0.00,12.83:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.7,36.8:0,0:0,0:108,124:43,27:31,15:-,NM_052843.3(OBSCN) c.13012+210A>G:-,0.73:-,NOT_FOUND 1 228501385 rs142260612 C T 192 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=C/0.9954,T/0.004593;NP=2;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.13013-2163C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.13013-2163C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.15884-2163C>T;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:122:94:0:0:63,59:2087,2009:0.00,192.36:0.00,115.33:0.00,77.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,39.8:0,0:0,0:51,59:92,88:25,36:-,NM_052843.3(OBSCN) c.13013-2163C>T:-,0.01:-,NOT_FOUND 1 228501588 . G . . NT END=228502514;NT GT ./. 1 228502782 . G . . NT END=228503547;NT GT ./. 1 228503677 rs1150912 A G 211 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=178;DB;DBA=NA;PAF=A/0.2991,G/0.7009;PC=0.003;Gene=OBSCN/NM_052843.3/0;CC=c.13142A>G;ProtCh=p.H4381R;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.13142A>G;ProtCh=p.H4381R;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.16013A>G;ProtCh=p.H5338R;VC=Missense;DM=OBSCN/I-set;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:178:114:0:0:105,73:3326,2288:0.00,211.17:0.00,96.52:0.00,114.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,42.2:0,0:0,0:68,78:78,73:36,40:-,NM_052843.3(OBSCN) c.13142A>G (p.His4381Arg):-,0.74:-,0.74988 1 228503821 . G . . NT END=228504409;NT GT ./. 1 228504027 rs3119591 C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6224,T/0.3776;Gene=OBSCN/NM_052843.3/0;CC=c.13285+207C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.13285+207C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.16156+207C>T;VC=Intron;DM=OBSCN/Pkinase;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,T:7:0:0:0:3,4:89,80:0.00,7.79:0.00,0.00:0.00,7.79:0.00,0.90:0.00,0.00:0.00,0.90:60,60:7.0,82.0:0,0:0,0:146,111:5,37:4,4:-,NM_052843.3(OBSCN) c.13285+207C>T:-,0.39:-,NOT_FOUND 1 228504239 rs3119592 G T 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.612,T/0.388;Gene=OBSCN/NM_052843.3/0;CC=c.13286-171G>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.13286-171G>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.16157-171G>T;VC=Intron;DM=OBSCN/Pkinase;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:17:16:0:0:9,8:221,282:0.00,26.94:0.00,27.21:0.00,-0.28:0.00,0.99:0.00,1.00:0.00,0.65:60,60:38.3,38.2:0,0:0,0:59,68:92,82:22,31:-,NM_052843.3(OBSCN) c.13286-171G>T:-,0.4:-,NOT_FOUND 1 228504472 rs1188732 T C 204 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=T/0.3007,C/0.6993;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.13348T>C;ProtCh=p.C4450R;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.13348T>C;ProtCh=p.C4450R;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.16219T>C;ProtCh=p.C5407R;VC=Missense;DM=OBSCN/Pkinase;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:139:119:0:0:67,72:2140,2249:204.18,0.00:136.93,0.00:67.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,10.5:0,0:0,0:90,64:60,85:35,32:NM_052843.3(OBSCN) c.13348T>C (p.Cys4450Arg),-:0.73,-:0.744069,- 1 228504670 rs11810627 C T 233 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=C/0.6697,T/0.3303;PC=0.969;Gene=OBSCN/NM_052843.3/0;CC=c.13546C>T;ProtCh=p.R4516W;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.13546C>T;ProtCh=p.R4516W;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.16417C>T;ProtCh=p.R5473W;VC=Missense;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:86:0:0:80,76:2532,2439:0.00,233.27:0.00,85.14:0.00,148.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,37.6:0,0:0,0:85,77:57,64:32,27:-,NM_052843.3(OBSCN) c.13546C>T (p.Arg4516Trp):-,0.35:-,0.375507 1 228504686 . G . . NT END=228505164;NT GT ./. 1 228504701 rs111792077 G GCTCC 161 nt VT=INS;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.3009,GCTCC/0.6991;NP=121;Gene=OBSCN/NM_052843.3/0;CC=c.13561+18_13561+19insCCCT;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.13561+18_13561+19insCCCT;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.16432+18_16432+19insCCCT;VC=Intron;DM=OBSCN/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCTCC:132:57:56:0:76,56:2526,1735:0.00,161.15:0.00,51.73:0.00,109.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.7,41.5:1,0:0,0:98,97:44,50:33,26:-,NM_052843.3(OBSCN) c.13561+16_13561+17insCTCC:-,0.73:-,0.671422 1 228504857 rs1188731 G T 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.6224,T/0.3776;Gene=OBSCN/NM_052843.3/0;CC=c.13561+172G>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.13561+172G>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.16432+172G>T;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:4:0:0:14,14:444,418:0.00,40.02:0.00,7.50:0.00,32.52:0.00,1.00:0.00,0.94:0.00,1.00:60,60:7.4,48.3:0,0:0,0:109,95:42,55:17,27:-,NM_052843.3(OBSCN) c.13561+172G>T:-,0.39:-,NOT_FOUND 1 228504959 rs1188730 C T 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6224,T/0.3776;Gene=OBSCN/NM_052843.3/0;CC=c.13562-206C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.13562-206C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.16433-206C>T;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:C,T:12:8:0:0:4,8:116,279:0.00,28.40:0.00,18.08:0.00,10.33:0.00,1.00:0.00,1.00:0.00,0.99:60,60:47.8,64.1:0,0:0,0:80,85:70,66:4,32:-,NM_052843.3(OBSCN) c.13562-206C>T:-,0.39:-,NOT_FOUND 1 228505453 . G . . NT END=228505592;NT GT ./. 1 228505668 rs1188729 C G 316 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=175;DB;DBA=NA;PAF=C/0.3007,G/0.6993;PC=0.197;Gene=OBSCN/NM_052843.3/0;CC=c.13925C>G;ProtCh=p.S4642C;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.13925C>G;ProtCh=p.S4642C;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.16796C>G;ProtCh=p.S5599C;VC=Missense;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:175:128:0:0:1,78,95,1:8,2625,3220,8:-0.17,0.00,315.55,-0.17:-0.11,0.00,175.28,-0.08:-0.05,0.00,140.27,-0.09:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:25.0,5.7,66.7,226.0:0,0,0,0:0,0,0,0:65,65,75,74:86,84,76,77:0,40,40,0:-,NM_052843.3(OBSCN) c.13925C>G (p.Ser4642Cys):-,0.73:-,0.745307 1 228505699 rs1188728 T C 297 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=189;DB;DBA=NA;PAF=T/0.2941,C/0.7059,G/.;Gene=OBSCN/NM_052843.3/0;CC=c.13956T>C;ProtCh=p.G4652=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.13956T>C;ProtCh=p.G4652=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.16827T>C;ProtCh=p.G5609=;VC=Silent;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:189:137:0:0:95,1,93:3081,9,2868:296.72,-0.16,0.00:164.49,-0.08,0.00:132.23,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.6,226.0,5.3:0,0,0:0,0,0:68,105,54:75,46,91:36,0,33:NM_052843.3(OBSCN) c.13956T>C (p.(=)),-:0.74,-:0.753062,- 1 228505875 . G . . NT END=228506584;NT GT ./. 1 228506956 . G . . NT END=228509044;NT GT ./. 1 228509427 rs373610 A G 232 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=163;DB;DBA=NA;PAF=A/0.3153,G/0.6847;PC=0.966;Gene=OBSCN/NM_052843.3/0;CC=c.14885A>G;ProtCh=p.D4962G;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.14885A>G;ProtCh=p.D4962G;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.17756A>G;ProtCh=p.D5919G;VC=Missense;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:163:100:0:0:88,75:2766,2451:0.00,232.07:0.00,106.65:0.00,125.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,46.5:0,0:0,0:79,88:72,59:33,31:-,NM_052843.3(OBSCN) c.14885A>G (p.Asp4962Gly):-,0.71:-,0.739736 1 228509916 . G . . NT END=228511028;NT GT ./. 1 228511308 . G . . NT END=228520560;NT GT ./. 1 228520382 rs429335 G A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6671,A/0.3329;Gene=OBSCN/NM_052843.3/0;CC=c.15653-179G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.15653-179G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.18524-179G>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:17:17:0:0:6,11:198,312:17.87,0.00:17.87,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:33.0,26.9:0,0:0,0:36,24:115,127:30,24:NM_052843.3(OBSCN) c.15653-179G>A,-:0.36,-:NOT_FOUND,- 1 228520640 . G . . NT END=228520899;NT GT ./. 1 228520763 rs384553 G A 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6563,A/0.3437;Gene=OBSCN/NM_052843.3/0;CC=c.15731+124G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.15731+124G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.18602+124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:30:0:0:20,18:629,557:61.01,0.00:39.99,0.00:21.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.9,9.2:0,0:0,0:30,43:120,107:20,29:NM_052843.3(OBSCN) c.15731+124G>A,-:0.36,-:NOT_FOUND,- 1 228520880 rs416564 C T 84 nt VT=SNV;PN=A;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.6581,T/0.3419;Gene=OBSCN/NM_052843.3/0;CC=c.15732-20C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.15732-20C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.18603-20C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:64:0:0:47,29:1534,921:0.00,83.99:0.00,58.01:0.00,25.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,58.4:0,0:0,0:59,75:75,76:37,34:-,NM_052843.3(OBSCN) c.15732-20C>T:-,0.36:-,0.39969 1 228520973 rs369909 C G 97 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.6649,G/0.3351;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.15805C>G;ProtCh=p.L5269V;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.15805C>G;ProtCh=p.L5269V;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.18676C>G;ProtCh=p.L6226V;VC=Missense;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:92:68:0:0:58,34:1865,1074:0.00,97.33:0.00,44.02:0.00,53.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,52.0:0,0:0,0:49,71:94,67:33,26:-,NM_052843.3(OBSCN) c.15805C>G (p.Leu5269Val):-,0.36:-,0.394728 1 228521025 . G . . NT END=228521283;NT GT ./. 1 228521482 . G . . NT END=228522212;NT GT ./. 1 228522029 rs57891072 TA T 34 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TA/0.4774,T/0.5226;NP=307;Gene=OBSCN/NM_052843.3/0;CC=c.16055-183delA;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16055-183delA;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.18926-183delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:TA,T:18:18:0:11:7,11:195,341:0.00,34.14:0.00,34.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.1,40.0:0,0:0,0:83,46:68,104:18,16:-,NM_052843.3(OBSCN) c.16055-183delA:-,0.55:-,NOT_FOUND 1 228522047 rs520552 A T 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.6496,T/0.3504;Gene=OBSCN/NM_052843.3/0;CC=c.16055-166A>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16055-166A>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.18926-166A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:25:25:0:0:9,16:267,519:0.00,52.44:0.00,52.44:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.2,37.6:0,0:0,0:83,41:68,110:36,28:-,NM_052843.3(OBSCN) c.16055-166A>T:-,0.37:-,NOT_FOUND 1 228522246 . G . . NT END=228522515;NT GT ./. 1 228522615 . G . . NT END=228522780;NT GT ./. 1 228523000 . G . . NT END=228523491;NT GT ./. 1 228523005 rs60787858 T TG 30 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5306,TG/0.4694;DB;DBA=NA;PAF=T/0.5306,TG/0.4694;NP=5;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.16405+11_16405+12insG;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16405+11_16405+12insG;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19276+11_19276+12insG;VC=Intron;DM=OBSCN/I-set;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,TG:30:25:12:0:1,1,16,12:11,11,444,329:0.09,0.09,0.00,30.30:0.17,0.17,0.00,26.94:-0.08,-0.08,0.00,3.36:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:19.0,11.0,21.2,18.8:0,1,0,0:0,0,0,0:132,140,115,118:19,11,14,32:0,0,29,14:-,NM_052843.3(OBSCN) c.16405+6_16405+7insG:-,0.51:-,0.416277 1 228523105 rs12401463 T G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3103,G/0.6897;Gene=OBSCN/NM_052843.3/0;CC=c.16405+106T>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16405+106T>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19276+106T>G;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:G,T:10:1:0:0:4,6:99,210:8.85,0.00:-0.11,0.00:8.96,0.00:0.84,0.00:0.60,0.00:0.84,0.00:60,60:52.2,8.5:0,0:0,0:56,80:91,53:11,16:NM_052843.3(OBSCN) c.16405+106T>G,-:0.71,-:NOT_FOUND,- 1 228523442 rs1684868 T C 105 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.5216,C/0.4784;Gene=OBSCN/NM_052843.3/0;CC=c.16406-50T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16406-50T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19277-50T>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:55:0:0:36,31:1085,972:105.37,0.00:69.41,0.00:35.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:105.2,16.6:0,0:0,0:47,25:99,121:20,17:NM_052843.3(OBSCN) c.16406-50T>C,-:0.49,-:0.501223,- 1 228523447 rs10799473 T C 114 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.1865,C/0.8135;Gene=OBSCN/NM_052843.3/0;CC=c.16406-45T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16406-45T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19277-45T>C;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:72:60:0:0:38,34:1173,1099:113.75,0.00:73.33,0.00:40.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:103.9,13.1:0,0:0,0:50,37:97,111:21,23:NM_052843.3(OBSCN) c.16406-45T>C,-:0.79,-:0.871142,- 1 228523448 rs1757161 G A 118 nt VT=SNV;PN=T;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.6474,A/0.3526;Gene=OBSCN/NM_052843.3/0;CC=c.16406-44G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16406-44G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19277-44G>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:72:60:0:0:37,34,1:1215,1098,10:117.80,0.00,-0.07:78.41,0.00,-0.14:39.39,0.00,0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:99.4,13.2,184.0:0,0,0:0,0,0:48,47,55:97,102,56:19,27,0:NM_052843.3(OBSCN) c.16406-44G>A,-:0.31,-:0.387718,- 1 228523553 . G . . NT END=228523900;NT GT ./. 1 228523618 rs1757160 G A 70 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.5258,A/0.4742;Gene=OBSCN/NM_052843.3/0;CC=c.16466+66G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16466+66G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19337+66G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:22:0:0:24,29:741,969:69.64,0.00:21.77,0.00:47.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,6.6:0,0:0,0:88,92:62,59:25,26:NM_052843.3(OBSCN) c.16466+66G>A,-:0.5,-:0.502847,- 1 228523972 . G . . NT END=228524704;NT GT ./. 1 228524828 . G . . NT END=228524944;NT GT ./. 1 228524919 rs3795807 G A 134 nt VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.76,A/0.24;Gene=OBSCN/NM_052843.3/0;CC=c.16661-26G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16661-26G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19532-26G>A;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:97:68:0:0:47,50:1405,1608:133.62,0.00:56.06,0.00:77.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.0,12.8:0,0:0,0:83,59:67,90:42,36:NM_052843.3(OBSCN) c.16661-26G>A,-:0.27,-:0.315397,- 1 228524961 rs3795808 C A 137 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.7602,A/0.2398,G/.;PC=0.002;Gene=OBSCN/NM_052843.3/0;CC=c.16677C>A;ProtCh=p.P5559=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.16677C>A;ProtCh=p.P5559=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.19548C>A;ProtCh=p.P6516=;VC=Silent;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:107:77:0:0:45,61,1:1467,1788,6:136.83,0.00,-0.21:55.72,0.00,-0.11:81.10,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:58.5,8.9,182.0:0,0,0:0,0,0:68,63,126:68,81,-11:38,33,0:NM_052843.3(OBSCN) c.16677C>A (p.(=)),-:0.27,-:0.315483,- 1 228525085 . G . . NT END=228525644;NT GT ./. 1 228525627 rs1757127 C A 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.7598,A/0.2402;Gene=OBSCN/NM_052843.3/0;CC=c.16801-18C>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.16801-18C>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19672-18C>A;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:45:42:0:0:24,21:738,638:71.72,0.00:55.10,0.00:16.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,11.4:0,0:0,0:31,48:110,103:16,30:NM_052843.3(OBSCN) c.16801-18C>A,-:0.28,-:0.315259,- 1 228525846 . G . . NT END=228525990;NT GT ./. 1 228525898 rs1188717 C G 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.4617,G/0.5383;Gene=OBSCN/NM_052843.3/0;CC=c.17001+53C>G;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.17001+53C>G;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19872+53C>G;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:44:21:0:0:24,20:792,656:0.00,61.95:0.00,15.94:0.00,46.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,44.5:0,0:0,0:52,98:98,51:34,42:-,NM_052843.3(OBSCN) c.17001+53C>G:-,0.56:-,NOT_FOUND 1 228526074 . G . . NT END=228526553;NT GT ./. 1 228526272 rs419808 G A 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6466,A/0.3534;Gene=OBSCN/NM_052843.3/0;CC=c.17084+199G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.17084+199G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19955+199G>A;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:8:0:0:0:6,2:169,68:17.80,0.00:0.00,0.00:17.80,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.7,21.5:0,0:0,0:94,136:56,15:22,1:NM_052843.3(OBSCN) c.17084+199G>A,-:0.36,-:NOT_FOUND,- 1 228526486 rs58480216 G A 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7716,A/0.2284;Gene=OBSCN/NM_052843.3/0;CC=c.17085-68G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.17085-68G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.19956-68G>A;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:44:0:0:19,25:586,714:54.62,0.00:50.38,0.00:4.24,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:42.8,13.6:0,0:0,0:46,48:105,101:23,22:NM_052843.3(OBSCN) c.17085-68G>A,-:0.27,-:NOT_FOUND,- 1 228526665 rs505629 T C 196 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=T/0.5056,C/0.4944;Gene=OBSCN/NM_052843.3/0;CC=c.17196T>C;ProtCh=p.A5732=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.17196T>C;ProtCh=p.A5732=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.20067T>C;ProtCh=p.A6689=;VC=Silent;DM=OBSCN/Pkinase;DM=OBSCN/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:148:113:0:0:67,81:2086,2654:196.30,0.00:117.90,0.00:78.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,5.2:0,0:0,0:85,65:64,79:35,39:NM_052843.3(OBSCN) c.17196T>C (p.(=)),-:0.52,-:0.55544,- 1 228526728 . G . . NT END=228527642;NT GT ./. 1 228526742 . C CCACACA 44 idl,nt VT=INS;SST=Single;DP=129;NP=10;NP=14;NP=7;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.17258+50_17258+51insACACAC;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.17258+50_17258+51insACACAC;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.20129+50_20129+51insACACAC;VC=Intron;DM=OBSCN/Pkinase;DM=OBSCN/RhoGEF;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CCACACA,D:113:89:29:19:2,78,2,18,13:45,2455,24,866,540:1.67,0.00,-0.05,43.92,27.61:-0.29,0.00,-0.29,14.79,5.60:1.96,0.00,0.24,29.14,22.02:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:71.0,22.6,126.5,45.3,19.2:0,0,0,11,5:0,0,0,0,0:88,100,116,64,75:63,36,33,86,68:14,29,8,12,22:-,NM_052843.3(OBSCN) c.17258+15_17258+16insCACACA:-,NOT_FOUND:-,NOT_FOUND 1 228527803 . G . . NT END=228528206;NT GT ./. 1 228528324 . G . . NT END=228528424;NT GT ./. 1 228528412 rs1150916 G A 191 nt VT=SNV;PN=C;NN=C;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.6482,A/0.3518,C/.;Gene=OBSCN/NM_052843.3/0;CC=c.17533-13G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.17533-13G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.20404-13G>A;VC=Intron;DM=OBSCN/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:137:88:0:0:68,1,68:1996,7,2091:191.10,-0.17,0.00:85.62,-0.09,0.00:105.48,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.9,73.0,6.0:0,0,0:0,0,0:76,150,70:71,1,78:31,0,31:NM_052843.3(OBSCN) c.17533-13G>A,-:0.36,-:0.409737,- 1 228528563 rs1188710 C G 184 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.4613,G/0.5387;PC=1.000;Gene=OBSCN/NM_052843.3/0;CC=c.17671C>G;ProtCh=p.Q5891E;VC=Missense;Gene=OBSCN/NM_001098623.2/0;CC=c.17671C>G;ProtCh=p.Q5891E;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.20542C>G;ProtCh=p.Q6848E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:119:78:0:0:60,59:1928,1916:0.00,183.97:0.00,101.25:0.00,82.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.8,38.7:0,0:0,0:84,65:67,77:38,32:-,NM_052843.3(OBSCN) c.17671C>G (p.Gln5891Glu):-,0.56:-,0.548757 1 228528590 . G . . NT END=228528795;NT GT ./. 1 228528955 . G . . NT END=228529137;NT GT ./. 1 228529316 . G . . NT END=228529819;NT GT ./. 1 228529934 . G . . NT END=228537590;NT GT ./. 1 228530025 rs114936771 G T 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9748,A/.,T/0.02516;Gene=OBSCN/NM_052843.3/0;CC=c.18148+92G>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.18148+92G>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.21019+92G>T;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:4:0:0:12,8:402,267:0.00,24.68:0.00,4.60:0.00,20.08:0.00,0.99:0.00,0.87:0.00,1.00:60,60:19.1,33.4:0,0:0,0:77,97:73,54:27,25:-,NM_052843.3(OBSCN) c.18148+92G>T:-,0.02:-,NOT_FOUND 1 228537759 . G . . NT END=228538541;NT GT ./. 1 228537942 rs729258 T C 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.354,C/0.646;Gene=OBSCN/NM_052843.3/0;CC=c.18316+184T>C;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.18316+184T>C;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.21187+184T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:11:0:0:0:7,4:202,135:20.37,0.00:0.00,0.00:20.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.4,7.5:0,0:0,0:119,89:31,60:15,9:NM_052843.3(OBSCN) c.18316+184T>C,-:0.63,-:NOT_FOUND,- 1 228538645 . G . . NT END=228539021;NT GT ./. 1 228538829 rs11581897 C T 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.5453,T/0.4547;Gene=OBSCN/NM_052843.3/0;CC=c.18419+185C>T;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.18419+185C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.21290+185C>T;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:19:0:0:14,14:446,421:0.00,40.34:0.00,34.23:0.00,6.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,43.7:0,0:0,0:48,28:102,122:19,25:-,NM_052843.3(OBSCN) c.18419+185C>T:-,0.43:-,NOT_FOUND 1 228539152 . G . . NT END=228540651;NT GT ./. 1 228539300 rs3795812 G A 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3998,A/0.6002;Gene=OBSCN/NM_052843.3/0;CC=c.18549+149G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.18549+149G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.21420+149G>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:0:0:0:16,12:472,416:46.51,0.00:0.00,0.00:46.51,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.2,18.4:0,0:0,0:117,104:34,46:12,27:NM_052843.3(OBSCN) c.18549+149G>A,-:0.59,-:NOT_FOUND,- 1 228540542 rs6695278 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5385,A/0.4615;PC=0.001;Gene=OBSCN/NM_052843.3/0;CC=c.18550-110G>A;VC=Intron;Gene=OBSCN/NM_001098623.2/0;CC=c.18550-110G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.21421-110G>A;VC=Intron;DM=OBSCN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:11,16:320,540:29.32,0.00:29.32,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.7,3.9:0,0:0,0:32,32:113,119:12,14:NM_052843.3(OBSCN) c.18550-110G>A,-:0.44,-:NOT_FOUND,- 1 228540764 . G . . NT END=228543851;NT GT ./. 1 228543895 . G . . NT END=228547297;NT GT ./. 1 228547901 rs12035900 C T 239 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=C/0.7013,T/0.2987;Gene=OBSCN/NM_052843.3/0;CC=c.19308C>T;ProtCh=p.D6436=;VC=Silent;Gene=OBSCN/NM_001098623.2/0;CC=c.18662-2376C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.21533-2376C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:160:111:0:0:83,77:2577,2505:0.00,239.17:0.00,130.72:0.00,108.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,38.1:0,0:0,0:77,54:71,97:36,31:-,NM_052843.3(OBSCN) c.19308C>T (p.(=)):-,0.27:-,0.253477 1 228548952 . C . . NT END=228550276;NT GT ./. 1 228550457 . G . . NT END=228552678;NT GT ./. 1 228552779 . G . . NT END=228553136;NT GT ./. 1 228553262 . G . . NT END=228553774;NT GT ./. 1 228553888 . G . . NT END=228554100;NT GT ./. 1 228554270 . G . . NT END=228554508;NT GT ./. 1 228554591 . G . . NT END=228554675;NT GT ./. 1 228554877 . G . . NT END=228555586;NT GT ./. 1 228555648 . G . . NT END=228556039;NT GT ./. 1 228556118 . G . . NT END=228556422;NT GT ./. 1 228556596 . G . . NT END=228556836;NT GT ./. 1 228556788 rs3738685 C T 151 nt VT=SNV;PN=C;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.6795,T/0.3205;Gene=OBSCN/NM_001098623.2/0;CC=c.19941-49C>T;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.22812-49C>T;VC=Intron;DM=OBSCN/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:63:0:0:37,47:1237,1536:0.00,150.97:0.00,84.92:0.00,66.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,43.0:0,0:0,0:50,56:89,82:35,37:-,NM_001098623.2(OBSCN) c.19941-49C>T:-,0.29:-,0.312087 1 228556864 . G . . NT END=228557642;NT GT ./. 1 228557796 . G . . NT END=228557893;NT GT ./. 1 228557940 . G . . NT END=228558379;NT GT ./. 1 228558458 . G . . NT END=228558723;NT GT ./. 1 228559430 rs41305136 G A 229 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=172;DB;DBA=NA;PAF=G/0.9782,A/0.02177;Gene=OBSCN/NM_001098623.2/0;CC=c.20951G>A;ProtCh=p.R6984Q;VC=Missense;Gene=OBSCN/NM_001271223.2/1;CC=c.23822G>A;ProtCh=p.R7941Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:172:108:0:0:77,95:2440,3012:229.39,0.00:115.76,0.00:113.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,9.3:0,0:0,0:70,63:80,74:37,41:NM_001098623.2(OBSCN) c.20951G>A (p.Arg6984Gln),-:0.02,-:0.02267,- 1 228560139 rs498382 A G 693 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=195;DB;DBA=NA;PAF=A/0.02576,G/0.9742;PC=0.010;Gene=OBSCN/NM_001098623.2/0;CC=c.21660A>G;ProtCh=p.S7220=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.24531A>G;ProtCh=p.S8177=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:195:124:0:0:1,194:12,6025:0.00,692.63:0.00,318.45:0.00,374.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,40.5:0,0:0,0:137,81:11,66:0,31:NM_001098623.2(OBSCN) c.21660A>G (p.(=)),NM_001098623.2(OBSCN) c.21660A>G (p.(=)):0.96,0.96:0.94489,0.94489 1 228560700 rs512253 T C 285 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=T/0.242,C/0.758;PC=0.942;Gene=OBSCN/NM_001098623.2/0;CC=c.22221T>C;ProtCh=p.D7407=;VC=Silent;Gene=OBSCN/NM_001271223.2/1;CC=c.25092T>C;ProtCh=p.D8364=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:157:96:0:0:90,67:2885,2145:284.74,0.00:126.79,0.00:157.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,5.2:0,0:0,0:77,67:69,73:34,35:NM_001098623.2(OBSCN) c.22221T>C (p.(=)),-:NOT_FOUND,-:0.653542,- 1 228560783 . G . . NT END=228561632;NT GT ./. 1 228560990 rs579897 G A 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.2408,A/0.7592;PC=0.415;Gene=OBSCN/NM_001098623.2/0;CC=c.22303+208G>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.25174+208G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:0:0:0:14,13:437,382:42.26,0.00:0.00,0.00:42.26,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.4,15.5:0,0:0,0:109,104:42,47:26,24:NM_001098623.2(OBSCN) c.22303+208G>A,-:0.71,-:NOT_FOUND,- 1 228561714 . G . . NT END=228562014;NT GT ./. 1 228562126 . G . . NT END=228562285;NT GT ./. 1 228562454 . G . . NT END=228563402;NT GT ./. 1 228563526 . G . . NT END=228563708;NT GT ./. 1 228563558 rs148149631 C A 150 nt VT=SNV;PN=G;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=6;Gene=OBSCN/NM_001098623.2/0;CC=c.22786+33C>A;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.25657+33C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:102:69:0:0:50,51,1:1568,1667,13:150.21,0.00,-0.03:96.38,0.00,0.08:53.83,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.0,10.3,134.0:0,0,0:0,0,0:98,84,130:52,67,21:33,37,0:NM_001098623.2(OBSCN) c.22786+33C>A,-:0.0023,-:0.000734,- 1 228563880 . G . . NT END=228564493;NT GT ./. 1 228564576 . G . . NT END=228564752;NT GT ./. 1 228564993 . G . . NT END=228565189;NT GT ./. 1 228565414 . G . . NT END=228565631;NT GT ./. 1 228565708 . G . . NT END=228565971;NT GT ./. 1 228566122 . G . . NT END=228566318;NT GT ./. 1 228566151 . C CCCCGCCCCCTCCTCCCGT 65 nt VT=INS;SST=Single;DP=189;PC=0.006;Gene=OBSCN/NM_001098623.2/0;CC=c.23729+63_23729+64insCGTCCCGCCCCCTCCTCC;VC=Intron;Gene=OBSCN/NM_001271223.2/1;CC=c.26594+63_26594+64insCGTCCCGCCCCCTCCTCC;VC=Intron;DM=OBSCN/Pkinase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,CCCCGCCCCCTCCTCCCGT:189:74:32:0:155,1,1,32:4704,10,8,868:0.00,-0.28,-0.31,65.12:0.00,-0.07,-0.04,14.68:0.00,-0.21,-0.26,50.44:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:19.2,131.0,86.0,20.2:1,0,0,0:0,0,0,0:115,63,98,82:23,88,28,45:22,0,0,23:-,NM_001098623.2(OBSCN) c.23729+30_23729+31insCCCGCCCCCTCCTCCCGT:-,NOT_FOUND:-,NOT_FOUND 1 228566497 . G . . NT END=228582405;NT GT ./. 1 228582954 . C . . NT END=228584647;NT GT ./. 1 228584749 . C . . NT END=228584843;NT GT ./. 1 228584867 . C . . NT END=228588664;NT GT ./. 1 228588896 . C . . NT END=228589766;NT GT ./. 1 228589863 . C . . NT END=228593854;NT GT ./. 1 228594263 . G . . NT END=228595901;NT GT ./. 1 228596453 . C . . NT END=228596474;NT GT ./. 1 228596977 . C . . NT END=228597089;NT GT ./. 1 228597113 . C . . NT END=228598646;NT GT ./. 1 228598878 . C . . NT END=228601497;NT GT ./. 1 228601594 . C . . NT END=228602344;NT GT ./. 1 228602815 . c . . NT END=228604087;NT GT ./. 1 228603029 rs10799476 C A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7123,A/0.2877;Gene=TRIM17/NM_001024940.2/0;CC=c.-5-251G>T;VC=Intron;Gene=TRIM17/NM_016102.3/1;CC=c.-41-215G>T;VC=Intron;Gene=TRIM17/NM_001134855.1/0;CC=c.-5-251G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,C:13:0:0:0:8,5:226,139:22.66,0.00:0.00,0.00:22.66,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:28.2,4.2:0,0:0,0:126,78:25,73:9,55:NM_016102.3(TRIM17) c.-41-215G>T,-:0.24,-:NOT_FOUND,- 1 228604483 . T G 9 sb VT=SNV;PN=T;NN=G;SST=Single;DP=74;Gene=TRIM17/NM_001024940.2/0;CC=c.-249A>C;VC=5UTR;Gene=TRIM17/NM_016102.3/1;CC=c.-285A>C;VC=5UTR;Gene=TRIM17/NM_001134855.1/0;CC=c.-401A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:G,T:74:46:0:0:9,65:165,1548:9.16,0.00:0.25,0.00:8.91,0.00:0.97,0.00:0.99,0.00:0.99,0.00:60,60:128.7,32.8:0,0:0,0:79,69:72,66:33,34:NM_016102.3(TRIM17) c.-285A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 228604579 . G . . NT END=228612615;NT GT ./. 1 228612444 rs1188473 A G 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1262,G/0.8738;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:479:55.52:55.52:0.00:1.00:1.00:0.00:60:51.4:0:0:57:93:24:chr1 g.228612443A>G (intergenic),chr1 g.228612443A>G (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 1 228612838 rs2230656 G T 1041 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=288;DB;DBA=NA;PAF=G/0.3097,T/0.6903;PC=1.000;Gene=HIST3H3/NM_003493.2/1;CC=c.189C>A;ProtCh=p.I63=;VC=Silent;DM=HIST3H3/Histone GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:288:172:0:0:288:9039:1040.65:447.78:592.88:1.00:1.00:1.00:60:37.8:0:0:86:59:37:NM_003493.2(HIST3H3) c.189C>A (p.(=)),NM_003493.2(HIST3H3) c.189C>A (p.(=)):0.7,0.7:0.726665,0.726665 1 228613027 . G . . NT END=228645125;NT GT ./. 1 228613052 rs1188474 T C 356 nt VT=SNV;PN=G;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.1338,C/0.8662 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:101:28:0:0:101:3080:355.58:76.01:279.57:1.00:1.00:1.00:60:39.5:0:0:107:41:19:NM_003493.2(HIST3H3) c.1-u26A>G,NM_003493.2(HIST3H3) c.1-u26A>G:0.85,0.85:0.904954,0.904954 1 228645063 rs10916317 A G 373 nt VT=SNV;PN=T;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.1532,G/0.8468 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:101:96:0:0:101:3254:373.34:321.15:52.19:1.00:1.00:1.00:60:46.9:0:0:43:106:24:NM_175055.2(HIST3H2BB) c.-23-u745A>G,NM_175055.2(HIST3H2BB) c.-23-u745A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 1 228645519 . T . . NT END=228645830;NT GT ./. 1 228646212 . G . . NT END=228674276;NT GT ./. 1 228667702 rs55880312 TAC T 13 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=35;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:TAC,T:5:4:0:6:1,4:31,166:0.00,12.97:0.00,4.66:0.00,8.31:0.00,0.90:0.00,0.97:0.00,0.98:60,60:23.0,13.2:0,2:0,0:108,90:35,60:0,11:-,NM_001010858.2(RNF187) c.-122-u7365_-122-u7364delAC:-,NOT_FOUND:-,NOT_FOUND 1 228674518 rs4233233 G A 464 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.6452,A/0.3548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:133:76:0:0:131,2:4027,18:464.08,0.23:197.25,0.00:266.84,0.23:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,18.0:0,0:0,0:83,62:62,86:33,15:NM_001010858.2(RNF187) c.-122-u550G>A,NM_001010858.2(RNF187) c.-122-u550G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 1 228674593 . G . . NT END=228674923;NT GT ./. 1 228675580 . G . . NT END=228676660;NT GT ./. 1 228676754 . G . . NT END=228680753;NT GT ./. 1 228680976 . G . . NT END=228681583;NT GT ./. 1 228681749 rs3795817 C T 434 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.5465,T/0.4535;Gene=RNF187/NM_001010858.2/1;CC=c.*163C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:116:72:0:0:1,115:6,3804:0.00,433.71:0.00,193.19:0.00,240.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,42.0:0,0:0,0:144,81:7,65:0,37:NM_001010858.2(RNF187) c.*163C>T,NM_001010858.2(RNF187) c.*163C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 1 228682330 rs12542 C G 635 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=C/0.07808,G/0.9219;PC=0.003;Gene=RNF187/NM_001010858.2/1;CC=c.*744C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:172:110:0:0:1,170,1:20,5572,10:0.00,635.42,0.06:0.00,297.05,-0.00:0.00,338.37,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:74.0,40.0,131.0:0,0,0:0,0,0:86,84,87:65,59,64:0,32,0:NM_001010858.2(RNF187) c.*744C>G,NM_001010858.2(RNF187) c.*744C>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 228682756 . a . . NT END=228683157;NT GT ./. 1 228683468 . t . . NT END=228696401;NT GT ./. 1 228696244 rs3820628 A G 92 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4073,G/0.5927 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:26:0:0:26:800:92.39:92.39:0.00:1.00:1.00:0.00:60:42.3:0:0:44:107:30:chr1 g.228696243A>G (intergenic),chr1 g.228696243A>G (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 1 228696536 . G . . NT END=228698059;NT GT ./. 1 228698380 . C . . NT END=228699351;NT GT ./. 1 228699477 rs6665115 T C 486 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.4976,C/0.5024;Gene=BTNL10/NM_001287262.1/1;CC=c.182A>G;ProtCh=p.H61R;VC=Missense;DM=BTNL10/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:132:100:0:0:132:4234:486.00:278.88:207.13:1.00:1.00:1.00:60:39.2:0:0:90:57:34:XM_001722031.3(BTNL10) c.182A>G (p.His61Arg),XM_001722031.3(BTNL10) c.182A>G (p.His61Arg):0.49,0.49:NOT_FOUND,NOT_FOUND 1 228699659 . A . . NT END=228871489;NT GT ./. 1 228707734 rs1925717 T C 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1807,C/0.8193;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:125:14.41:3.98:10.43:1.00:1.00:1.00:60:57.8:0:0:136:10:5:chr1 g.228707733T>C (intergenic),chr1 g.228707733T>C (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 228871693 rs3738073 C T 102 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.871,G/.,T/0.129;PC=1.000;Gene=RHOU/NR_037962.1/0;VC=NonCoding;Gene=RHOU/NM_021205.5/1;CC=c.204C>T;ProtCh=p.S68=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:92:51:0:0:52,2,38:1616,20,1102:0.00,-0.11,101.65:0.00,-0.24,38.79:0.00,0.13,62.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.6,47.0,46.6:0,0,0:0,0,0:104,66,99:42,83,49:27,3,31:-,NM_021205.5(RHOU) c.204C>T (p.(=)):-,0.12:-,0.164254 1 228871752 . G . . NT END=228873419;NT GT ./. 1 228873479 . G . . NT END=228879031;NT GT ./. 1 228873640 rs397840117 GT G 20 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=GT/0.5996,G/0.4004;DB;DBA=NA;PAF=GT/0.5996,G/0.4004;NP=506;Gene=RHOU/NR_037962.1/0;VC=NonCoding;Gene=RHOU/NM_021205.5/1;CC=c.321+164delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:14:0:0:7:7,7:239,208:0.00,19.92:0.00,0.00:0.00,19.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.7,18.0:0,0:0,0:129,95:22,55:8,10:-,NM_021205.5(RHOU) c.321+163delT:-,0.36:-,NOT_FOUND 1 228878835 rs12402303 T C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.4601,C/0.5399;Gene=RHOU/NR_037962.1/0;VC=NonCoding;Gene=RHOU/NM_021205.5/1;CC=c.322-197T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:12,9:356,284:35.07,0.00:35.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:89.0,3.6:0,0:0,0:71,57:71,94:14,25:NM_021205.5(RHOU) c.322-197T>C,-:0.5,-:NOT_FOUND,- 1 228878871 rs41270187 T C 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8656,C/0.1344;Gene=RHOU/NR_037962.1/0;VC=NonCoding;Gene=RHOU/NM_021205.5/1;CC=c.322-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:23:23:0:0:12,1,10:418,10,293:40.96,0.14,0.00:40.96,0.14,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:91.1,54.0,10.7:0,0,0:0,0,0:97,27,81:53,97,70:23,0,22:NM_021205.5(RHOU) c.322-161T>C,-:0.12,-:NOT_FOUND,- 1 228878888 rs41270189 C T 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8696,T/0.1304;Gene=RHOU/NR_037962.1/0;VC=NonCoding;Gene=RHOU/NM_021205.5/1;CC=c.322-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:13,11:407,307:0.00,28.68:0.00,28.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.9,93.5:0,0:0,0:75,110:76,38:35,23:-,NM_021205.5(RHOU) c.322-144C>T:-,0.11:-,NOT_FOUND 1 228879488 . T . . NT END=229407086;NT GT ./. 1 228917653 rs71930711 CTG C 14 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTG/0.08287,C/0.9171;DB;DBA=NA;PAF=CTG/0.08287,C/0.9171;DB;DBA=NA;PAF=CTG/0.08287,C/0.9171;NP=44;PC=0.023;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:4:4:123:14.20:6.45:7.75:1.00:1.00:1.00:60:8.5:0:0:50:90:11:chr1 g.228917654_228917655delTG (intergenic),chr1 g.228917654_228917655delTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 228918599 rs241316 G T 10 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4165,T/0.5835;PC=0.443 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,T:4:2:0:0:1,3:34,98:0.00,10.25:0.00,1.27:0.00,8.98:0.00,0.85:0.00,0.95:0.00,0.99:60,60:9.0,32.7:0,0:0,0:96,40:55,76:0,7:-,chr1 g.228918598G>T (intergenic):-,0.58:-,NOT_FOUND 1 228918628 rs398069676 G GGT 10 sb,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4736,GGT/0.4928,GGTGTGT/0.03355;DB;DBA=NA;PAF=G/0.4736,GGT/0.4928;NP=21;PC=0.055;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,GGT:4:2:3:0:1,3:11,98:0.00,10.29:0.00,1.26:0.00,9.03:0.00,0.85:0.00,0.95:0.00,0.99:60,60:9.0,32.3:0,0:0,0:125,69:26,47:0,7:-,chr1 g.228918628_228918629insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 228927104 rs241287 G C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5152,C/0.4848;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:187:21.52:2.04:19.48:1.00:1.00:1.00:60:45.0:0:0:96:53:22:chr1 g.228927103G>C (intergenic),chr1 g.228927103G>C (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 1 229152216 rs57108089 CTCTGTG C 8 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CTCTGTG,C:5:5:0:3:2,3:69,83:0.00,8.26:0.00,3.93:0.00,4.33:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,39.3:1,0:0,0:55,66:75,84:18,25:-,chr1 g.229152217_229152222delTCTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 229207877 rs1817284 A C 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4265,C/0.5735;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:4:3:0:0:2,2:66,67:0.00,6.45:0.00,3.38:0.00,3.07:0.00,0.94:0.00,0.89:0.00,0.94:60,60:0.0,38.5:0,0:0,0:129,101:21,48:16,15:-,chr1 g.229207876A>C (intergenic):-,0.59:-,NOT_FOUND 1 229407118 . G . . NT END=229422232;NT GT ./. 1 229422088 rs237763 A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7776,G/0.2224;Gene=RAB4A/NM_001271998.1/0;CC=c.-50-9507A>G;VC=Intron;Gene=RAB4A/NM_004578.3/1;CC=c.32-145A>G;VC=Intron;Gene=RAB4A/NR_073545.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:6:6:0:0:4,2:102,71:0.00,6.41:0.00,6.41:0.00,0.00:0.00,0.42:0.00,0.42:0.00,0.00:60,60:45.8,69.0:0,0:0,0:61,26:88,124:34,12:-,NM_004578.2(RAB4A) c.32-145A>G:-,0.23:-,NOT_FOUND 1 229422193 rs237764 T C 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=RAB4A/NM_001271998.1/0;CC=c.-50-9402T>C;VC=Intron;Gene=RAB4A/NM_004578.3/1;CC=c.32-40T>C;VC=Intron;Gene=RAB4A/NR_073545.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:12:0:0:7,8:235,253:22.34,0.00:18.10,0.00:4.24,0.00:0.99,0.00:1.00,0.00:0.99,0.00:60,60:43.3,28.8:0,0:0,0:34,62:116,89:29,29:NM_004578.2(RAB4A) c.32-40T>C,-:0.64,-:0.673947,- 1 229422314 . G . . NT END=229424475;NT GT ./. 1 229424591 . G . . NT END=229431594;NT GT ./. 1 229431658 . G . . NT END=229433228;NT GT ./. 1 229433384 . G . . NT END=229434723;NT GT ./. 1 229434820 . G . . NT END=229438608;NT GT ./. 1 229438530 . CT C 24 idl,rn VT=DEL;SST=Single;DP=55;NP=11;PC=0.011;Gene=RAB4A/NM_001271998.1/0;CC=c.227-66delT;VC=Intron;Gene=RAB4A/NM_004578.3/1;CC=c.542-66delT;VC=Intron;Gene=RAB4A/NR_073545.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:53:54:1:12:41,1,1,10:1263,12,33,371:0.00,-0.07,1.71,24.42:0.00,-0.06,1.73,24.55:0.00,-0.01,-0.01,-0.13:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.44:60,60,60,60:31.5,101.0,0.0,23.4:0,0,0,2:0,0,0,0:51,142,11,37:92,9,140,112:29,0,0,22:-,NM_004578.2(RAB4A) c.542-78delT:-,NOT_FOUND:-,NOT_FOUND 1 229438725 . G . . NT END=229440881;NT GT ./. 1 229438828 rs237787 G A 110 nt VT=SNV;PN=G;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.395,A/0.605;PC=0.038;Gene=RAB4A/NM_001271998.1/0;CC=c.*12+92G>A;VC=Intron;Gene=RAB4A/NM_004578.3/1;CC=c.*12+92G>A;VC=Intron;Gene=RAB4A/NR_073545.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:2:0:0:34,23:1107,730:110.18,0.00:1.68,0.00:108.51,0.00:1.00,0.00:0.86,0.00:1.00,0.00:60,60:40.6,8.1:0,0:0,0:95,92:55,59:32,43:NM_004578.2(RAB4A) c.*12+92G>A,-:0.64,-:NOT_FOUND,- 1 229441074 . A . . NT END=229460981;NT GT ./. 1 229461159 . C . . NT END=229462484;NT GT ./. 1 229461315 rs237801 A G 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8041,G/0.1959;Gene=CCSAP/NM_145257.4/1;CC=c.637-157T>C;VC=Intron;DM=CCSAP/CCSAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,G:15:0:0:0:6,9:143,281:0.00,28.01:0.00,0.00:0.00,28.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.2,33.9:0,0:0,0:93,119:57,32:46,18:-,NM_145257.3(CCSAP) c.637-157T>C:-,0.21:-,NOT_FOUND 1 229462754 . C . . NT END=229477845;NT GT ./. 1 229463000 rs237803 T C 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7752,C/0.2248;Gene=CCSAP/NM_145257.4/1;CC=c.368-247A>G;VC=Intron;DM=CCSAP/CCSAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,C,T:8:0:0:0:1,3,4:12,98,130:0.58,9.14,0.00:0.00,0.00,0.00:0.58,9.14,0.00:0.00,0.67,0.00:0.00,0.00,0.00:0.00,0.67,0.00:60,60,60:37.0,44.3,2.5:0,0,0:0,0,0:148,116,79:-2,35,70:0,33,10:NM_145257.3(CCSAP) c.368-247A>G,-:0.23,-:NOT_FOUND,- 1 229477725 . GA G 31 idl,rn VT=DEL;SST=Single;DP=56;NP=2;Gene=CCSAP/NM_145257.4/1;CC=c.367+120delT;VC=Intron;DM=CCSAP/CCSAP;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,T,I,G:55:54:6:13:36,1,6,12:998,14,180,402:0.00,0.08,13.29,31.45:0.00,0.10,13.43,26.50:0.00,-0.02,-0.15,4.95:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.87:60,60,60,70:36.4,14.0,47.3,22.6:0,0,0,1:0,0,0,0:40,82,41,36:110,67,109,110:19,0,28,13:-,NM_145257.3(CCSAP) c.367+120delT:-,NOT_FOUND:-,NOT_FOUND 1 229477767 rs12756927 A G 119 nt VT=SNV;PN=A;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.8129,G/0.1871;Gene=CCSAP/NM_145257.4/1;CC=c.367+79T>C;VC=Intron;DM=CCSAP/CCSAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:87:0:0:54,39:1743,1278:0.00,118.92:0.00,84.82:0.00,34.09:0.00,1.00:0.00,1.00:0.00,1.00:70,60:13.5,48.6:0,0:0,0:48,54:96,97:29,30:-,NM_145257.3(CCSAP) c.367+79T>C:-,0.17:-,NOT_FOUND 1 229478213 . G . . NT END=229567245;NT GT ./. 1 229567390 . C . . NT END=229567467;NT GT ./. 1 229567650 . C . . NT END=229567740;NT GT ./. 1 229567933 . C . . NT END=229568016;NT GT ./. 1 229568179 . C . . NT END=229568302;NT GT ./. 1 229568231 rs527621 T G 437 nt VT=SNV;PN=C;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=2596;Gene=ACTA1/NM_001100.3/1;CC=c.455-53A>C;VC=Intron;DM=ACTA1/Actin;DM=ACTA1/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:126:113:0:0:125,1:3800,11:437.09,0.00:374.87,0.00:62.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,138.0:0,0:0,0:78,111:68,35:38,0:NM_001100.3(ACTA1) c.455-53A>C,NM_001100.3(ACTA1) c.455-53A>C:1,1:NOT_FOUND,NOT_FOUND 1 229568258 . C G 17 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=117;NP=1;Gene=ACTA1/NM_001100.3/1;CC=c.454+45G>C;VC=Intron;DM=ACTA1/Actin;DM=ACTA1/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,G,I:117:105:1:0:104,12,1:3275,276,19:0.00,16.91,0.09:0.00,-3.87,-0.40:0.00,20.78,0.49:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.69,0.00:60,60,60:41.1,80.0,36.0:1,0,0:0,0,0:83,37,3:66,87,148:40,20,0:-,NM_001100.3(ACTA1) c.454+45G>C:-,NOT_FOUND:-,NOT_FOUND 1 229568628 . C . . NT END=229568733;NT GT ./. 1 229568863 . T . . NT END=229577650;NT GT ./. 1 229577788 . C . . NT END=229580660;NT GT ./. 1 229580476 rs484940 T C 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.0009984,C/0.999;NP=2011;PC=0.002;Gene=NUP133/NM_018230.2/1;CC=c.3334+185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:300:34.29:34.29:0.00:1.00:1.00:0.00:60:39.1:0:0:47:102:34:NM_018230.2(NUP133) c.3334+185A>G,NM_018230.2(NUP133) c.3334+185A>G:1,1:NOT_FOUND,NOT_FOUND 1 229580750 . C . . NT END=229584872;NT GT ./. 1 229584938 . C . . NT END=229586271;NT GT ./. 1 229586353 . C . . NT END=229588271;NT GT ./. 1 229588391 . C . . NT END=229593907;NT GT ./. 1 229594044 . C . . NT END=229596357;NT GT ./. 1 229596061 rs563210 G A 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8776,A/0.1224;PC=0.038;Gene=NUP133/NM_018230.2/1;CC=c.2844+297C>T;VC=Intron;DM=NUP133/Nucleoporin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:4:0:0:2,2:66,68:6.35,0.00:6.35,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:66.0,0.0:0,0:0,0:37,64:113,87:28,28:NM_018230.2(NUP133) c.2844+297C>T,-:0.1,-:NOT_FOUND,- 1 229596062 rs534083 C A 6 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8776,A/0.1224;PC=0.030;Gene=NUP133/NM_018230.2/1;CC=c.2844+296G>T;VC=Intron;DM=NUP133/Nucleoporin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C:4:4:0:0:2,2:66,71:6.35,0.00:6.35,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:66.0,0.0:0,0:0,0:38,65:112,86:28,28:NM_018230.2(NUP133) c.2844+296G>T,-:0.1,-:NOT_FOUND,- 1 229596517 . C . . NT END=229599289;NT GT ./. 1 229599424 . C . . NT END=229600370;NT GT ./. 1 229600623 . C . . NT END=229601166;NT GT ./. 1 229601267 . C . . NT END=229602380;NT GT ./. 1 229602081 rs34261379 GA G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GA/0.3858,G/0.6142;NP=73;PC=0.001;Gene=NUP133/NM_018230.2/1;CC=c.2199+299delT;VC=Intron;DM=NUP133/Nucleoporin_C;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GA,G:4:4:0:3:1,3:33,92:0.00,9.65:0.00,9.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,0.0:0,0:0,0:34,109:117,42:0,2:-,NM_018230.2(NUP133) c.2199+299delT:-,0.56:-,NOT_FOUND 1 229602504 . C . . NT END=229606326;NT GT ./. 1 229602743 rs10675709 T TTTTA 17 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.381,TTTTA/0.619;NP=61;PC=0.058;Gene=NUP133/NM_018230.2/1;CC=c.2077-244_2077-241dupTAAA;VC=Intron;DM=NUP133/Nucleoporin_C;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:T,TTTTA:12:0:6:0:6,6:182,178:0.00,17.05:0.00,0.00:0.00,17.05:0.00,0.98:0.00,0.00:0.00,0.98:60,60:2.3,30.3:0,0:0,0:134,89:14,61:12,33:-,NM_018230.2(NUP133) c.2077-241_2077-240insTAAA:-,NOT_FOUND:-,NOT_FOUND 1 229606552 . C . . NT END=229611384;NT GT ./. 1 229611480 . C . . NT END=229613343;NT GT ./. 1 229613186 rs545949314 CA C 14 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CA/0.7831,C/0.2169;NP=2;PC=0.001;Gene=NUP133/NM_018230.2/1;CC=c.1756+157delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:CA,I,C:19:19:1:5:13,1,5:435,34,163:0.00,2.29,14.06:0.00,2.29,14.06:0.00,0.00,0.00:0.00,0.00,0.86:0.00,0.00,0.86:0.00,0.00,0.00:60,60,60:33.1,0.0,15.2:0,0,0:0,0,0:61,104,44:89,47,77:45,0,29:-,NM_018230.2(NUP133) c.1756+157delT:-,NOT_FOUND:-,NOT_FOUND 1 229613508 . C . . NT END=229619800;NT GT ./. 1 229619893 . C . . NT END=229622117;NT GT ./. 1 229622276 . C . . NT END=229623212;NT GT ./. 1 229623361 . C . . NT END=229625701;NT GT ./. 1 229625850 . C . . NT END=229631241;NT GT ./. 1 229631313 . C . . NT END=229631638;NT GT ./. 1 229631795 . C . . NT END=229633882;NT GT ./. 1 229634054 . C . . NT END=229635430;NT GT ./. 1 229635566 . C . . NT END=229636502;NT GT ./. 1 229636611 . C . . NT END=229637745;NT GT ./. 1 229637850 . C . . NT END=229641786;NT GT ./. 1 229641906 . C . . NT END=229643665;NT GT ./. 1 229643707 . T . . NT END=229643814;NT GT ./. 1 229643997 . G . . NT END=229653925;NT GT ./. 1 229654158 . C . . NT END=229654587;NT GT ./. 1 229654623 . C . . NT END=229657338;NT GT ./. 1 229657220 rs368158613 G GA 16 rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=ABCB10/NM_012089.2/1;CC=c.1950+118_1950+119insT;VC=Intron;DM=ABCB10/ABC_tran;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,G,GA,D:26:26:6:2:1,17,6,2:11,535,191,66:0.07,0.00,16.21,4.74:0.07,0.00,16.21,4.74:0.00,0.00,0.00,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.00,0.00:60,60,60,60:131.0,10.9,9.0,0.0:0,0,0,0:0,0,0,0:118,44,83,60:32,107,68,90:0,27,42,13:-,NM_012089.2(ABCB10) c.1950+118_1950+119insT:-,NOT_FOUND:-,NOT_FOUND 1 229657383 . C . . NT END=229661682;NT GT ./. 1 229661864 . C . . NT END=229662975;NT GT ./. 1 229663056 . C . . NT END=229665945;NT GT ./. 1 229663064 rs55677147 GAGGAA G 119 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3266;PC=0.001;Gene=ABCB10/NM_012089.2/1;CC=c.1646-14_1646-10delTTCCT;VC=Intron;DM=ABCB10/ABC_tran;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:GAGGAA,G:42:20:0:36:7,35:234,1103:0.00,118.77:0.00,49.68:0.00,69.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,3.7:0,0:0,0:133,89:13,62:5,16:-,NM_012089.2(ABCB10) c.1646-14_1646-10delTTCCT:-,1:-,0.995037 1 229666156 . C . . NT END=229667382;NT GT ./. 1 229667479 . C . . NT END=229675202;NT GT ./. 1 229675339 . C . . NT END=229676352;NT GT ./. 1 229676500 . C . . NT END=229677983;NT GT ./. 1 229678119 . C . . NT END=229683245;NT GT ./. 1 229683449 . C . . NT END=229684980;NT GT ./. 1 229685182 . C . . NT END=229693882;NT GT ./. 1 229685508 rs36058471 CTT C 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CTT/0.8516,C/0.1484;NP=177;PC=0.001;Gene=ABCB10/NM_012089.2/1;CC=c.518-329_518-328delAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CTT,C:5:0:0:4:1,4:36,127:0.00,13.52:0.00,0.00:0.00,13.52:0.00,0.96:0.00,0.00:0.00,0.96:18,60:31.0,11.8:0,0:0,0:87,84:64,66:0,11:-,NM_012089.2(ABCB10) c.518-329_518-328delAA:-,0.16:-,NOT_FOUND 1 229694400 . G . . NT END=229730043;NT GT ./. 1 229730842 . C . . NT END=229734940;NT GT ./. 1 229735022 . GT G 7 rn VT=DEL;SST=Single;DP=41;PC=0.001;Gene=TAF5L/NM_014409.3/1;CC=c.972+2919delA;VC=Intron;Gene=TAF5L/NM_001025247.1/0;CC=c.*2913delA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:GT,I,G:41:29:1:3:37,1,3:1264,32,100:0.00,1.67,6.81:0.00,0.82,3.30:0.00,0.85,3.50:0.00,0.00,0.36:0.00,0.00,0.77:0.00,0.00,0.73:60,60,60:6.5,0.0,2.3:0,0,0:0,0,0:105,33,99:40,116,52:28,0,36:-,NM_014409.3(TAF5L) c.972+2919delA:-,NOT_FOUND:-,NOT_FOUND 1 229735057 . a . . NT END=229735541;NT GT ./. 1 229738236 rs4925500 G A 641 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=166;DB;DBA=NA;PAF=G/0.1579,A/0.8421;Gene=TAF5L/NM_014409.3/1;CC=c.678C>T;ProtCh=p.P226=;VC=Silent;Gene=TAF5L/NM_001025247.1/0;CC=c.678C>T;ProtCh=p.P226=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:166:111:0:0:166:5621:641.14:313.66:327.48:1.00:1.00:1.00:60:39.6:0:0:63:86:34:NM_014409.3(TAF5L) c.678C>T (p.(=)),NM_014409.3(TAF5L) c.678C>T (p.(=)):0.85,0.85:0.807473,0.807473 1 229738667 . C . . NT END=229741865;NT GT ./. 1 229741941 . C . . NT END=229742164;NT GT ./. 1 229743180 . T . . NT END=229745852;NT GT ./. 1 229745958 . C . . NT END=229750087;NT GT ./. 1 229750036 rs7547607 C T 486 nt VT=SNV;PN=A;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.8185,T/0.1815;Gene=TAF5L/NM_014409.3/1;CC=c.142+52G>A;VC=Intron;Gene=TAF5L/NM_001025247.1/0;CC=c.142+52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:132:119:0:0:132:4236:486.37:344.57:141.80:1.00:1.00:1.00:60:40.7:0:0:35:110:21:NM_014409.3(TAF5L) c.142+52G>A,NM_014409.3(TAF5L) c.142+52G>A:0.18,0.18:0.215208,0.215208 1 229750230 . G . . NT END=229763380;NT GT ./. 1 229763507 . G . . NT END=229768015;NT GT ./. 1 229768193 . G . . NT END=229770663;NT GT ./. 1 229773995 . G . . NT END=229779279;NT GT ./. 1 229779441 . G . . NT END=229781605;NT GT ./. 1 229781717 . G . . NT END=229783256;NT GT ./. 1 229783236 rs6587349 T C 383 nt VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.03654,C/0.9635;Gene=URB2/NM_001314021/0;CC=c.3907-21T>C;VC=Intron;Gene=URB2/NM_014777.2/1;CC=c.3907-21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:100:89:0:0:100:3349:382.54:293.47:89.06:1.00:1.00:1.00:60:42.5:0:0:45:105:28:NM_014777.2(URB2) c.3907-21T>C,NM_014777.2(URB2) c.3907-21T>C:0.94,0.94:0.908658,0.908658 1 229783500 . G . . NT END=229786981;NT GT ./. 1 229787070 . G . . NT END=229789995;NT GT ./. 1 229790136 . G . . NT END=229794846;NT GT ./. 1 229795045 . G . . NT END=230203027;NT GT ./. 1 230203154 . G . . NT END=230313963;NT GT ./. 1 230314058 . G . . NT END=230338882;NT GT ./. 1 230339037 . G . . NT END=230371759;NT GT ./. 1 230371859 . G . . NT END=230372098;NT GT ./. 1 230372167 . G . . NT END=230372405;NT GT ./. 1 230372472 . G . . NT END=230379051;NT GT ./. 1 230379174 . G . . NT END=230381808;NT GT ./. 1 230381897 . G . . NT END=230384929;NT GT ./. 1 230385018 . G . . NT END=230386202;NT GT ./. 1 230386307 . G . . NT END=230390963;NT GT ./. 1 230391091 . G . . NT END=230398318;NT GT ./. 1 230398102 rs632557 A G 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.01158,G/0.9884;Gene=GALNT2/NM_001291866.1/0;CC=c.1023-217A>G;VC=Intron;Gene=GALNT2/NM_004481.4/1;CC=c.1137-217A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:223:26.09:26.09:0.00:1.00:1.00:0.00:60:39.4:0:0:44:106:27:NM_004481.3(GALNT2) c.1137-217A>G,NM_004481.3(GALNT2) c.1137-217A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 230398412 . G . . NT END=230398667;NT GT ./. 1 230398752 . G . . NT END=230400986;NT GT ./. 1 230398939 rs7518564 G C 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1012,C/0.8988;Gene=GALNT2/NM_001291866.1/0;CC=c.1199+188G>C;VC=Intron;Gene=GALNT2/NM_004481.4/1;CC=c.1313+188G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:256:29.38:0.00:29.38:1.00:0.00:1.00:60:43.0:0:0:123:28:10:NM_004481.3(GALNT2) c.1313+188G>C,NM_004481.3(GALNT2) c.1313+188G>C:0.87,0.87:NOT_FOUND,NOT_FOUND 1 230401114 . G . . NT END=230410190;NT GT ./. 1 230410311 . G . . NT END=230415048;NT GT ./. 1 230415025 rs6698963 A G 158 nt VT=SNV;PN=T;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.2772,G/0.7228;Gene=GALNT2/NM_001291866.1/0;CC=c.1447-24A>G;VC=Intron;Gene=GALNT2/NM_004481.4/1;CC=c.1561-24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:91:0:0:48,51:1448,1637:0.00,158.25:0.00,130.12:0.00,28.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,39.2:0,0:0,0:78,68:70,76:34,37:-,NM_004481.3(GALNT2) c.1561-24A>G:-,0.7:-,0.593279 1 230415205 . G . . NT END=230459170;NT GT ./. 1 230415293 rs2273967 C T 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.7432,T/0.2568;PC=0.997;Gene=GALNT2/NM_001291866.1/0;CC=c.*89C>T;VC=3UTR;Gene=GALNT2/NM_004481.4/1;CC=c.*89C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:11:0:0:32,31:913,1034:0.00,99.28:0.00,14.14:0.00,85.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,42.3:0,0:0,0:93,119:57,32:32,18:-,NM_004481.3(GALNT2) c.*89C>T:-,0.22:-,NOT_FOUND 1 230459367 . C . . NT END=230461055;NT GT ./. 1 230461079 rs2306813 G A 66 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7646,A/0.2354;PC=1.000;Gene=PGBD5/NM_001258311.1/1;CC=c.1356C>T;ProtCh=p.C452=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:48:0:0:22,37:720,1289:65.57,0.00:47.81,0.00:17.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,0.7:0,0:0,0:67,65:77,79:24,20:NM_001258311.1(PGBD5) c.1356C>T (p.(=)),-:0.25,-:0.168922,- 1 230461162 . C . . NT END=230468589;NT GT ./. 1 230468788 . C . . NT END=230472853;NT GT ./. 1 230468957 rs7414930 G T 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6376,T/0.3624;Gene=PGBD5/NM_001258311.1/1;CC=c.1076-170C>A;VC=Intron;DM=PGBD5/DDE_Tnp_1_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,T:16:0:0:0:10,6:269,192:0.00,17.50:0.00,0.00:0.00,17.50:0.00,0.95:0.00,0.00:0.00,0.95:60,60:17.7,61.2:0,0:0,0:91,93:60,57:20,18:-,NM_001258311.1(PGBD5) c.1076-170C>A:-,0.41:-,NOT_FOUND 1 230473035 . C . . NT END=230486703;NT GT ./. 1 230473103 rs10864744 A C 85 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.6284,C/0.3716;Gene=PGBD5/NM_001258311.1/1;CC=c.895-69T>G;VC=Intron;DM=PGBD5/DDE_Tnp_1_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:47:11:0:0:20,27:601,862:0.00,85.16:0.00,17.71:0.00,67.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,47.3:0,0:0,0:110,100:39,51:25,35:-,NM_001258311.1(PGBD5) c.895-69T>G:-,0.42:-,NOT_FOUND 1 230486839 . C . . NT END=230492639;NT GT ./. 1 230493068 . C . . NT END=230513243;NT GT ./. 1 230513128 rs828463 G A 98 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.3688,A/0.6312;Gene=PGBD5/NM_001258311.1/1;CC=c.332-20061C>T;VC=Intron;DM=PGBD5/DDE_Tnp_1_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:A,C:27:27:0:0:26,1:864,13:98.37,0.49:98.37,0.49:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.0,90.0:0,0:0,0:33,6:117,145:21,0:NM_001258311.1(PGBD5) c.332-20061C>T,NM_001258311.1(PGBD5) c.332-20061C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 1 230513386 . g . . NT END=230561343;NT GT ./. 1 230561675 . g . . NT END=230778352;NT GT ./. 1 230561700 rs535188248 G GC 398 nt VT=INS;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=111;PC=0.011;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G,GC:127:58:118:0:9,118:290,3558:0.00,397.90:0.00,100.95:0.00,296.94:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.8,14.8:1,0:0,0:142,94:6,45:4,21:NM_001258311.1(PGBD5) c.1-u27_1-u26insG,NM_001258311.1(PGBD5) c.1-u27_1-u26insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 230653016 rs6660476 T C 16 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5072,C/0.4928 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:136:15.51:13.52:1.99:1.00:1.00:1.00:60:39.2:0:0:28:123:13:chr1 g.230653015T>C (intergenic),chr1 g.230653015T>C (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 1 230653077 rs4029770 T TTGTGTGTG 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4205,TG/.,TTG/.,TTGTG/.,TTGTGTGTG/0.5795,TTGTGTGTGTGTGTG/.;DB;DBA=NA;PAF=NA;NP=25;NP=3;NP=3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:T,TTGTGTGTG:4:4:4:0:1,3:11,134:0.00,10.39:0.00,6.78:0.00,3.60:0.00,0.78:0.00,0.97:0.00,0.94:60,60:45.0,34.3:0,1:0,0:96,65:55,84:0,11:-,chr1 g.230653077_230653078insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 230778425 . G . . NT END=230795209;NT GT ./. 1 230778491 rs4846864 G C 207 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.1795,C/0.8205;Gene=COG2/NM_001145036.1/1;CC=c.72+67G>C;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.72+67G>C;VC=Intron;DM=COG2/COG2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:C:59:22:0:0:59:1788:206.79:47.06:159.73:1.00:1.00:1.00:60:34.3:0:0:115:33:20:NM_007357.2(COG2) c.72+67G>C,NM_007357.2(COG2) c.72+67G>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 230795177 rs1359866 T C 99 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2442,C/0.7558;Gene=COG2/NM_001145036.1/1;CC=c.73-33T>C;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.73-33T>C;VC=Intron;DM=COG2/COG2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C,T:31:27:0:0:29,2:884,23:99.21,0.00:71.37,0.00:27.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,80.0:0,0:0,0:72,87:76,61:35,31:NM_007357.2(COG2) c.73-33T>C,NM_007357.2(COG2) c.73-33T>C:0.74,0.74:0.654575,0.654575 1 230795372 . G . . NT END=230796503;NT GT ./. 1 230796326 rs3736983 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8556,G/0.1444;Gene=COG2/NM_001145036.1/1;CC=c.235-178A>G;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.235-178A>G;VC=Intron;DM=COG2/COG2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:8:8:0:0:4,4:125,135:0.00,13.00:0.00,13.00:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:0.0,45.2:0,0:0,0:63,20:87,130:44,9:-,NM_007357.2(COG2) c.235-178A>G:-,0.15:-,NOT_FOUND 1 230796570 . G . . NT END=230798886;NT GT ./. 1 230798864 . CT C 36 rn VT=DEL;SST=Single;DP=57;NP=106;PC=0.001;Gene=COG2/NM_001145036.1/1;CC=c.301-12delT;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.301-12delT;VC=Intron;DM=COG2/COG2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:57:51:2:13:41,1,2,13:1333,12,63,426:0.00,-0.07,3.72,35.86:0.00,-0.02,0.64,19.91:0.00,-0.06,3.08,15.96:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,70:16.8,47.0,24.0,2.6:0,0,0,0:0,0,0,0:66,141,24,61:84,10,126,87:31,0,16,18:-,NM_007357.2(COG2) c.301-22delT:-,NOT_FOUND:-,NOT_FOUND 1 230798968 . G . . NT END=230800229;NT GT ./. 1 230800334 . G . . NT END=230804421;NT GT ./. 1 230804299 rs41271495 A C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=21;Gene=COG2/NM_001145036.1/1;CC=c.486-123A>C;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.486-123A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:20:20:0:0:10,10:315,294:0.00,28.10:0.00,28.10:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.2,39.0:0,0:0,0:65,63:85,87:21,49:-,NM_007357.2(COG2) c.486-123A>C:-,0.0014:-,NOT_FOUND 1 230804531 . G . . NT END=230805101;NT GT ./. 1 230804773 rs2281951 C T 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8159,T/0.1841;Gene=COG2/NM_001145036.1/1;CC=c.594+243C>T;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.594+243C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:0:0:0:1,3:34,77:0.00,8.12:0.00,0.00:0.00,8.12:0.00,0.85:0.00,0.00:0.00,0.85:60,60:9.0,29.3:0,0:0,0:141,110:10,40:0,26:-,NM_007357.2(COG2) c.594+243C>T:-,0.2:-,NOT_FOUND 1 230805282 . G . . NT END=230807261;NT GT ./. 1 230807387 . G . . NT END=230810743;NT GT ./. 1 230810858 rs113173809 T C 80 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=32;PC=1.000;Gene=COG2/NM_001145036.1/1;CC=c.1014T>C;ProtCh=p.D338=;VC=Silent;Gene=COG2/NM_007357.2/0;CC=c.1014T>C;ProtCh=p.D338=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:65:44:0:0:1,28,36:13,859,1170:0.03,80.12,0.00:-0.11,46.92,0.00:0.14,33.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:39.0,43.2,8.0:0,0,0:0,0,0:17,93,59:133,54,90:0,37,30:NM_007357.2(COG2) c.1014T>C (p.(=)),-:0.0014,-:0.003998,- 1 230810871 . G . . NT END=230813772;NT GT ./. 1 230814083 rs1998997 C T 424 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.2754,T/0.7246;Gene=COG2/NM_001145036.1/1;CC=c.1027-576C>T;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1027-576C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:114:62:0:0:114:3695:423.69:175.43:248.27:1.00:1.00:1.00:60:38.4:0:0:84:64:37:NM_007357.2(COG2) c.1027-576C>T,NM_007357.2(COG2) c.1027-576C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 230814524 . g . . NT END=230814658;NT GT ./. 1 230814799 . G . . NT END=230819319;NT GT ./. 1 230819155 rs5781595 TA T 6 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.3642,T/0.6358;DB;DBA=NA;PAF=TA/0.3642,T/0.6358;NP=12;Gene=COG2/NM_001145036.1/1;CC=c.1167-145delA;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1167-145delA;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TA,T:4:7:0:5:2,2:66,167:0.00,6.37:0.00,6.37:0.00,0.00:0.00,0.39:0.00,0.39:0.00,0.00:60,60:18.0,47.5:0,3:0,0:57,33:93,118:25,20:-,NM_007357.2(COG2) c.1167-164delA:-,NOT_FOUND:-,NOT_FOUND 1 230819295 rs6143664 ATTC A 48 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=ATTC/0.649,A/0.351;DB;DBA=NA;PAF=ATTC/0.649,A/0.351;NP=1370;Gene=COG2/NM_001145036.1/1;CC=c.1167-16_1167-14delCTT;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1167-16_1167-14delCTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTC,A:35:30:0:17:19,16:633,511:0.00,48.25:0.00,38.03:0.00,10.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,9.1:0,0:0,0:60,38:90,110:41,20:-,NM_007357.2(COG2) c.1167-24_1167-22delTTC:-,0.35:-,0.220607 1 230819382 . G . . NT END=230820830;NT GT ./. 1 230819479 rs5781597 G GT 35 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=783;Gene=COG2/NM_001145036.1/1;CC=c.1228+110dupT;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1228+110dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:G,GT:14:0:13:0:3,11:98,400:0.00,35.44:0.00,0.00:0.00,35.44:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,7.0:0,2:0,0:143,64:8,86:4,42:-,NM_007357.2(COG2) c.1228+98_1228+99insT:-,NOT_FOUND:-,NOT_FOUND 1 230820605 rs2296797 G T 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6492,T/0.3508;PC=0.031;Gene=COG2/NM_001145036.1/1;CC=c.1229-226G>T;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1229-226G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:G,T:10:10:0:0:6,4:177,120:0.00,10.99:0.00,11.10:0.00,-0.11:0.00,0.84:0.00,0.84:0.00,0.60:60,60:39.7,63.2:0,0:0,0:41,53:109,97:12,4:-,NM_007357.2(COG2) c.1229-226G>T:-,0.35:-,NOT_FOUND 1 230820630 rs2296798 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6478,A/0.3522;Gene=COG2/NM_001145036.1/1;CC=c.1229-201G>A;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1229-201G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G:11:11:0:0:5,6:165,171:15.60,0.00:13.78,0.00:1.82,0.00:0.93,0.00:0.93,0.00:0.64,0.00:60,60:35.2,52.7:0,0:0,0:70,78:81,72:17,5:NM_007357.2(COG2) c.1229-201G>A,-:0.34,-:NOT_FOUND,- 1 230820780 rs3215851 TA T 74 nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=TA/0.6933,T/0.3067;NP=1798;Gene=COG2/NM_001145036.1/1;CC=c.1229-47delA;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1229-47delA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:51:47:0:25:26,25:861,778:0.00,74.37:0.00,62.91:0.00,11.46:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.8,21.6:0,0:0,0:29,50:118,99:18,26:-,NM_007357.2(COG2) c.1229-50delA:-,0.31:-,NOT_FOUND 1 230820983 . G . . NT END=230822680;NT GT ./. 1 230822471 rs1536592 C A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.05172,A/0.9483;Gene=COG2/NM_001145036.1/1;CC=c.1381-210C>A;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1381-210C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:39.0:0:0:44:106:9:NM_007357.2(COG2) c.1381-210C>A,NM_007357.2(COG2) c.1381-210C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 230822607 rs1536591 G A 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4026,A/0.5974;Gene=COG2/NM_001145036.1/1;CC=c.1381-74G>A;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1381-74G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:25:0:0:17,11:548,322:54.80,0.00:46.36,0.00:8.45,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:38.1,13.9:0,0:0,0:36,39:111,111:20,25:NM_007357.2(COG2) c.1381-74G>A,-:0.61,-:NOT_FOUND,- 1 230822879 . G . . NT END=230823816;NT GT ./. 1 230823040 rs1536590 C T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4026,T/0.5974;Gene=COG2/NM_001145036.1/1;CC=c.1578+162C>T;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1578+162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,T:10:0:0:0:6,4:158,132:0.00,12.20:0.00,0.00:0.00,12.20:0.00,0.84:0.00,0.00:0.00,0.84:60,60:34.3,35.5:0,0:0,0:79,103:68,47:21,11:-,NM_007357.2(COG2) c.1578+162C>T:-,0.61:-,NOT_FOUND 1 230823890 . G . . NT END=230824165;NT GT ./. 1 230824309 . G . . NT END=230825759;NT GT ./. 1 230825500 rs61828618 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.891,T/0.109;Gene=COG2/NM_001145036.1/1;CC=c.1792-260C>T;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.1795-260C>T;VC=Intron;DM=COG2/DUF3510 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:8:8:0:0:5,3:167,90:0.00,8.13:0.00,8.13:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:19.2,38.0:0,0:0,0:24,32:127,119:5,24:-,NM_007357.2(COG2) c.1795-260C>T:-,0.14:-,NOT_FOUND 1 230825900 . G . . NT END=230827129;NT GT ./. 1 230827311 . G . . NT END=230829037;NT GT ./. 1 230828873 rs3789662 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6556,G/0.3444;Gene=COG2/NM_001145036.1/1;CC=c.2113-165A>G;VC=Intron;Gene=COG2/NM_007357.2/0;CC=c.2116-165A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:6:6:0:0:2,4:69,93:0.00,9.49:0.00,9.49:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,61.5:0,0:0,0:55,58:96,91:43,42:-,NM_007357.2(COG2) c.2116-165A>G:-,0.34:-,NOT_FOUND 1 230829139 rs1051038 A G 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6554,G/0.3446;PC=0.085;Gene=COG2/NM_001145036.1/1;CC=c.2214A>G;ProtCh=p.*738=;VC=Silent;Gene=COG2/NM_007357.2/0;CC=c.2217A>G;ProtCh=p.*739=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:12:0:0:15,7:507,233:0.00,20.66:0.00,7.59:0.00,13.08:0.00,0.97:0.00,0.98:0.00,0.99:60,60:0.5,43.6:0,0:0,0:113,107:25,37:25,22:-,NM_007357.2(COG2) c.2217A>G (p.(=)):-,0.34:-,0.213594 1 230829140 . G . . NT END=230838886;NT GT ./. 1 230839076 . C . . NT END=230839938;NT GT ./. 1 230840084 . C . . NT END=230841678;NT GT ./. 1 230840096 rs1926723 T C 122 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.8668,A/.,C/0.1332,G/.;Gene=AGT/NM_000029.3/1;CC=c.1125-13A>G;VC=Intron;DM=AGT/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:36:0:0:39,28:1235,899:122.35,0.00:34.00,0.00:88.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,10.4:0,0:0,0:94,85:43,51:36,22:NM_000029.3(AGT) c.1125-13A>G,-:0.15,-:0.066969,- 1 230840197 rs1926722 C A 52 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8684,A/0.1316;PC=0.001;Gene=AGT/NM_000029.3/1;CC=c.1125-114G>T;VC=Intron;DM=AGT/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:28:4:0:0:18,10:514,279:52.04,0.00:0.64,0.00:51.40,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:63.6,20.8:0,0:0,0:126,90:24,60:17,40:NM_000029.3(AGT) c.1125-114G>T,-:0.15,-:NOT_FOUND,- 1 230840269 rs11122575 A G 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.868,G/0.132;Gene=AGT/NM_000029.3/1;CC=c.1125-186T>C;VC=Intron;DM=AGT/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:13:0:0:0:9,4:249,128:0.00,11.23:0.00,0.00:0.00,11.23:0.00,0.79:0.00,0.00:0.00,0.79:60,60:33.7,67.8:0,0:0,0:38,132:100,18:38,5:-,NM_000029.3(AGT) c.1125-186T>C:-,0.15:-,NOT_FOUND 1 230841687 rs7080 T C 212 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.02736,C/0.9726,G/.;PC=0.007;Gene=AGT/NM_000029.3/1;CC=c.1116A>G;ProtCh=p.L372=;VC=Silent;DM=AGT/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:C:57:49:0:0:57:1849:211.91:139.73:72.19:1.00:1.00:1.00:60:45.0:0:0:52:87:31:NM_000029.3(AGT) c.1116A>G (p.(=)),NM_000029.3(AGT) c.1116A>G (p.(=)):0.96,0.96:0.940873,0.940873 1 230841947 . C . . NT END=230845740;NT GT ./. 1 230845794 rs699 A G 69 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=in-clinvar;PAF=A/0.2949,G/0.7051;Gene=AGT/NM_000029.3/1;CC=c.803T>C;ProtCh=p.M268T;VC=Missense;DM=AGT/Serpin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:56:0:0:54,24:1765,782:0.00,68.75:0.00,30.27:0.00,38.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,38.4:0,0:0,0:84,98:65,51:28,31:-,NM_000029.3(AGT) c.803T>C (p.Met268Thr):-,0.66:-,0.561664 1 230846597 . A . . NT END=230883242;NT GT ./. 1 230846679 rs11122576 T C 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8628,C/0.1372;Gene=AGT/NM_000029.3/1;CC=c.-3-80A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:8:0:0:14,12:460,368:44.91,0.00:13.09,0.00:31.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,12.6:0,0:0,0:127,117:22,33:9,26:NM_000029.3(AGT) c.-3-80A>G,-:0.15,-:NOT_FOUND,- 1 230883456 . G . . NT END=230888409;NT GT ./. 1 230883484 rs6690251 T C 88 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.5052,C/0.4948;Gene=CAPN9/NM_006615.2/1;CC=c.213+29T>C;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.213+29T>C;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:23:0:0:28,19:880,571:87.57,0.00:35.60,0.00:51.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.2,14.2:0,0:0,0:100,98:36,50:26,29:NM_006615.2(CAPN9) c.213+29T>C,-:0.57,-:0.61018,- 1 230883499 rs6690254 T C 72 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.505,C/0.495;Gene=CAPN9/NM_006615.2/1;CC=c.213+44T>C;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.213+44T>C;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:18:0:0:22,18:734,585:71.94,0.00:27.09,0.00:44.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.5,15.9:0,0:0,0:113,91:34,59:24,21:NM_006615.2(CAPN9) c.213+44T>C,-:0.57,-:0.60918,- 1 230883656 rs4078405 C G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5062,A/.,G/0.4938;Gene=CAPN9/NM_006615.2/1;CC=c.213+201C>G;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.213+201C>G;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,G:8:0:0:0:2,6:60,190:0.00,19.91:0.00,0.00:0.00,19.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.5,58.5:0,0:0,0:85,109:66,39:18,17:-,NM_006615.2(CAPN9) c.213+201C>G:-,0.56:-,NOT_FOUND 1 230883704 rs4078404 C T 9 end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5064,T/0.4936;PC=0.003;Gene=CAPN9/NM_006615.2/1;CC=c.213+249C>T;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.213+249C>T;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:0:0:0:1,3:35,86:0.00,9.05:0.00,0.00:0.00,9.05:0.00,0.85:0.00,0.00:0.00,0.85:60,60:7.0,84.7:0,0:0,0:115,148:36,2:0,0:-,NM_006615.2(CAPN9) c.213+249C>T:-,0.57:-,NOT_FOUND 1 230888208 rs3000061 C T 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3205,T/0.6795;PC=0.013;Gene=CAPN9/NM_006615.2/1;CC=c.214-2875C>T;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.214-2875C>T;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:10:10:0:0:6,4:182,95:0.00,8.45:0.00,8.45:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:21.7,62.2:0,0:0,0:36,63:114,86:14,22:-,NM_006615.2(CAPN9) c.214-2875C>T:-,0.7:-,NOT_FOUND 1 230888426 rs11577947 A T 70 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.7374,T/0.2626;PC=0.004;Gene=CAPN9/NM_006615.2/1;CC=c.214-2657A>T;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.214-2657A>T;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:76:54:0:0:50,26:1579,787:0.00,69.88:0.00,28.62:0.00,41.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,53.0:0,0:0,0:83,79:57,61:26,25:-,NM_006615.2(CAPN9) c.214-2657A>T:-,0.29:-,NOT_FOUND 1 230888466 . G . . NT END=230891082;NT GT ./. 1 230888501 rs11590877 G T 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.7155,T/0.2845;Gene=CAPN9/NM_006615.2/1;CC=c.214-2582G>T;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.214-2582G>T;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:21:0:0:28,14:911,456:0.00,40.66:0.00,8.99:0.00,31.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,63.6:0,0:0,0:121,81:21,68:19,44:-,NM_006615.2(CAPN9) c.214-2582G>T:-,0.31:-,NOT_FOUND 1 230888588 rs2986384 G A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3201,A/0.6799;Gene=CAPN9/NM_006615.2/1;CC=c.214-2495G>A;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.214-2495G>A;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:13:0:0:0:7,6:217,206:21.14,0.00:0.00,0.00:21.14,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:66.6,2.0:0,0:0,0:107,67:44,83:20,34:NM_006615.2(CAPN9) c.214-2495G>A,-:0.7,-:NOT_FOUND,- 1 230888673 rs7543422 G C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7121,A/.,C/0.2879;Gene=CAPN9/NM_006615.2/1;CC=c.214-2410G>C;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.214-2410G>C;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,G:9:0:0:0:4,5:104,143:9.59,0.00:0.00,0.00:9.59,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:72.5,28.2:0,0:0,0:85,91:63,59:15,42:NM_006615.2(CAPN9) c.214-2410G>C,-:0.31,-:NOT_FOUND,- 1 230891153 . G . . NT END=230895257;NT GT ./. 1 230895340 rs28359608 C A 77 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.8452,A/0.1548;PC=1.000;Gene=CAPN9/NM_006615.2/1;CC=c.366C>A;ProtCh=p.S122R;VC=Missense;Gene=CAPN9/NM_016452.1/0;CC=c.366C>A;ProtCh=p.S122R;VC=Missense;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:48:32:0:0:24,24:795,817:76.51,0.00:34.60,0.00:41.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,13.3:0,0:0,0:84,101:59,49:21,22:NM_006615.2(CAPN9) c.366C>A (p.Ser122Arg),-:0.13,-:0.148701,- 1 230895377 . G . . NT END=230898398;NT GT ./. 1 230895523 rs28359612 TA T 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.8423,T/0.1577;NP=283;Gene=CAPN9/NM_006615.2/1;CC=c.402+148delA;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.402+148delA;VC=Intron;DM=CAPN9/Peptidase_C2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:TA,T:7:0:0:4:4,3:127,93:0.00,8.65:0.00,0.00:0.00,8.65:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,5.0:0,0:0,0:35,43:113,108:4,10:-,NM_006615.2(CAPN9) c.402+148delA:-,0.18:-,NOT_FOUND 1 230898533 . G . . NT END=230903286;NT GT ./. 1 230903234 rs11122590 A G 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.4449,G/0.5551;PC=0.080;Gene=CAPN9/NM_006615.2/1;CC=c.537-53A>G;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.537-53A>G;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:34:0:1:15,21:468,582:0.00,57.43:0.00,43.97:0.00,13.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,58.0:0,0:0,0:30,29:121,115:16,17:-,NM_006615.2(CAPN9) c.537-53A>G:-,0.56:-,NOT_FOUND 1 230903456 . G . . NT END=230904925;NT GT ./. 1 230905010 . G . . NT END=230907759;NT GT ./. 1 230907846 . G . . NT END=230910299;NT GT ./. 1 230908201 rs6541336 G A 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6771,A/0.3229;Gene=CAPN9/NM_006615.2/1;CC=c.875+356G>A;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.875+356G>A;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:189:21.76:0.00:21.76:1.00:0.00:1.00:60:59.8:0:0:113:37:32:NM_006615.2(CAPN9) c.875+356G>A,NM_006615.2(CAPN9) c.875+356G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 1 230910378 . G . . NT END=230914718;NT GT ./. 1 230910481 . CTTTCTT C 7 idl,nt VT=DEL;SST=Single;DP=20;NP=5;Gene=CAPN9/NM_006615.2/1;CC=c.953+108_953+113delCTTTTT;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.875+2640_875+2645delCTTTTT;VC=Intron;DM=CAPN9/Peptidase_C2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CTTTCTT,T,C:16:0:0:7:11,2,3:348,21,208:0.00,0.70,6.89:0.00,0.00,0.00:0.00,0.70,6.89:0.00,0.00,0.50:0.00,0.00,0.00:0.00,0.00,0.50:60,60,60:17.5,71.5,43.3:4,1,4:0,0,0:131,107,69:20,42,82:10,26,17:-,NM_006615.2(CAPN9) c.953+105_953+110delTTTCTT:-,NOT_FOUND:-,NOT_FOUND 1 230914706 rs1933630 C A 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.8926,A/0.1074,T/.;Gene=CAPN9/NM_006615.2/1;CC=c.954-13C>A;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.876-13C>A;VC=Intron;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:72:62:0:0:32,39,1:1062,1182,7:100.26,0.00,-0.18:70.54,0.00,-0.12:29.72,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:76.1,45.5,135.0:0,0,0:0,0,0:52,49,146:94,102,5:33,33,0:NM_006615.2(CAPN9) c.954-13C>A,-:0.11,-:0.133861,- 1 230914729 rs1933631 A C 289 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.6687,C/0.3313;PC=0.991;Gene=CAPN9/NM_006615.2/1;CC=c.964A>C;ProtCh=p.K322Q;VC=Missense;Gene=CAPN9/NM_016452.1/0;CC=c.886A>C;ProtCh=p.K296Q;VC=Missense;DM=CAPN9/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:78:63:0:0:78:2519:288.95:207.14:81.81:1.00:1.00:1.00:60:57.6:0:0:57:88:33:NM_006615.2(CAPN9) c.964A>C (p.Lys322Gln),NM_006615.2(CAPN9) c.964A>C (p.Lys322Gln):0.29,0.29:0.34092,0.34092 1 230914880 . G . . NT END=230915924;NT GT ./. 1 230915818 rs79410167 G C 58 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.9942,C/0.005791;NP=1;NP=52;PC=0.001;Gene=CAPN9/NM_006615.2/1;CC=c.1115-107G>C;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.1037-107G>C;VC=Intron;DM=CAPN9/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:31:0:1:19,15:596,496:58.48,0.00:50.96,0.00:7.52,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:64.4,9.1:0,0:0,0:43,74:96,77:31,49:NM_006615.2(CAPN9) c.1115-107G>C,-:0.01,-:NOT_FOUND,- 1 230915827 . CGT C 32 idl,rn VT=DEL;SST=Single;DP=37;NP=7;PC=0.003;Gene=CAPN9/NM_006615.2/1;CC=c.1115-58_1115-57delTG;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.1037-58_1037-57delTG;VC=Intron;DM=CAPN9/Calpain_III;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGT,C:23:32:0:28:11,12:358,741:0.00,32.27:0.00,18.16:0.00,14.12:0.00,1.00:0.00,1.00:0.00,0.96:60,70:31.5,88.8:0,14:0,0:120,31:30,110:12,17:-,NM_006615.2(CAPN9) c.1115-97_1115-96delGT:-,NOT_FOUND:-,NOT_FOUND 1 230916083 . G . . NT END=230916245;NT GT ./. 1 230916260 rs28359687 C T 101 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.8922,T/0.1078;Gene=CAPN9/NM_006615.2/1;CC=c.1287C>T;ProtCh=p.D429=;VC=Silent;Gene=CAPN9/NM_016452.1/0;CC=c.1209C>T;ProtCh=p.D403=;VC=Silent;DM=CAPN9/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:50:0:0:38,34:1189,1069:0.00,101.44:0.00,44.32:0.00,57.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,42.6:0,0:0,0:52,54:93,86:38,26:-,NM_006615.2(CAPN9) c.1287C>T (p.(=)):-,0.11:-,0.13463 1 230916455 . G . . NT END=230921726;NT GT ./. 1 230921764 . G . . NT END=230921855;NT GT ./. 1 230921974 . G . . NT END=230923267;NT GT ./. 1 230923151 rs2297830 T C 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.7919,C/0.2081;Gene=CAPN9/NM_006615.2/1;CC=c.1519-117T>C;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.1441-117T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:16:0:0:8,8:258,273:24.80,0.00:24.80,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:77.9,12.6:0,0:0,0:80,64:70,87:20,39:NM_006615.2(CAPN9) c.1519-117T>C,-:0.19,-:NOT_FOUND,- 1 230923187 rs12731671 C G 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8041,G/0.1959;Gene=CAPN9/NM_006615.2/1;CC=c.1519-81C>G;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.1441-81C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:20:0:0:16,8:515,240:0.00,21.16:0.00,22.03:0.00,-0.87:0.00,0.99:0.00,1.00:0.00,0.42:60,60:13.7,77.9:0,0:0,0:31,116:119,34:18,20:-,NM_006615.2(CAPN9) c.1519-81C>G:-,0.17:-,NOT_FOUND 1 230923313 rs12731961 C T 87 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.8039,T/0.1961;PC=0.185;Gene=CAPN9/NM_006615.2/1;CC=c.1564C>T;ProtCh=p.R522W;VC=Missense;Gene=CAPN9/NM_016452.1/0;CC=c.1486C>T;ProtCh=p.R496W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:39:0:0:30,28:964,906:0.00,86.56:0.00,35.26:0.00,51.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,37.2:0,0:0,0:77,57:66,80:34,24:-,NM_006615.2(CAPN9) c.1564C>T (p.Arg522Trp):-,0.17:-,0.224204 1 230923349 . G . . NT END=230925877;NT GT ./. 1 230926102 . c . . NT END=230927609;NT GT ./. 1 230927675 . G . . NT END=230928171;NT GT ./. 1 230927871 rs1933635 T C 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5036,C/0.4964;PC=0.001;Gene=CAPN9/NM_006615.2/1;CC=c.1722+197T>C;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.1644+197T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,C,T:7:4:0:0:1,4,2:13,121,69:0.82,12.30,0.00:-0.13,6.33,0.00:0.95,5.97,0.00:0.00,0.90,0.00:0.00,0.97,0.00:0.00,0.93,0.00:60,60,60:45.0,30.2,56.5:0,0,0:0,0,0:11,72,49:140,77,101:0,49,48:NM_006615.2(CAPN9) c.1722+197T>C,-:0.5,-:NOT_FOUND,- 1 230928241 . G . . NT END=230928595;NT GT ./. 1 230928512 rs7522057 C G 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5803,A/.,G/0.4197;Gene=CAPN9/NM_006615.2/1;CC=c.1792-84C>G;VC=Intron;Gene=CAPN9/NM_016452.1/0;CC=c.1714-84C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:17:0:0:14,8:422,253:0.00,22.86:0.00,13.73:0.00,9.14:0.00,0.99:0.00,1.00:0.00,0.97:60,60:25.6,40.4:0,0:0,0:63,62:87,88:41,46:-,NM_006615.2(CAPN9) c.1792-84C>G:-,0.36:-,NOT_FOUND 1 230928675 . G . . NT END=230930908;NT GT ./. 1 230931026 . G . . NT END=230933907;NT GT ./. 1 230933967 . G . . NT END=230937315;NT GT ./. 1 230937343 . G . . NT END=230975597;NT GT ./. 1 230975454 rs1202550 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2436,G/0.7564;PC=0.752;Gene=C1orf198/NM_001136495.1/0;CC=c.*144T>C;VC=3UTR;Gene=C1orf198/NM_032800.2/0;CC=c.*144T>C;VC=3UTR;Gene=C1orf198/NM_001136494.1/1;CC=c.*144T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:221:25.40:25.40:0.00:1.00:1.00:0.00:60:37.6:0:0:50:101:14:NM_032800.2(C1orf198) c.*144T>C,NM_032800.2(C1orf198) c.*144T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 1 230975655 . C . . NT END=230979099;NT GT ./. 1 230979643 . C . . NT END=230991413;NT GT ./. 1 230979657 rs41314280 G A 79 nt VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.8143,A/0.1857,C/.;Gene=C1orf198/NM_001136495.1/0;CC=c.-6-15C>T;VC=Intron;Gene=C1orf198/NM_032800.2/0;CC=c.385-15C>T;VC=Intron;Gene=C1orf198/NM_001136494.1/1;CC=c.271-15C>T;VC=Intron;DM=C1orf198/DUF4706;DM=C1orf198/DUF4706 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:26:0:0:27,41:860,1382:79.02,0.00:11.13,0.00:67.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,8.0:0,0:0,0:105,90:46,49:19,25:NM_032800.2(C1orf198) c.385-15C>T,-:0.2,-:0.134112,- 1 230991465 . C . . NT END=230991623;NT GT ./. 1 230991783 . c . . NT END=231003925;NT GT ./. 1 231003851 rs11122619 G C 98 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.7981,C/0.2019;Gene=C1orf198/NM_032800.2/0;CC=c.333+75C>G;VC=Intron;Gene=C1orf198/NM_001136494.1/1;CC=c.219+75C>G;VC=Intron;DM=C1orf198/DUF4706;DM=C1orf198/DUF4706 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:56:53:0:0:32,24:996,657:98.41,0.00:89.31,0.00:9.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.2,29.0:0,0:0,0:64,41:84,110:32,23:NM_032800.2(C1orf198) c.333+75C>G,-:0.22,-:NOT_FOUND,- 1 231004259 . G . . NT END=231042650;NT GT ./. 1 231004431 rs1202587 T C 66 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.102,C/0.898;Gene=C1orf198/NM_001136494.1/1;CC=c.-5+127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:21:1:0:0:21:566:66.27:4.08:62.20:1.00:1.00:1.00:60:76.4:0:0:96:40:29:NM_032800.2(C1orf198) c.-44-u129A>G,NM_032800.2(C1orf198) c.-44-u129A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 231042766 . C . . NT END=231044457;NT GT ./. 1 231044538 . C . . NT END=231044687;NT GT ./. 1 231044767 . C . . NT END=231047215;NT GT ./. 1 231044970 rs9431888 C A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9022,A/0.09784;Gene=TTC13/NM_001122835.2/0;CC=c.2148-204G>T;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.2310-204G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C:9:0:0:0:3,6:98,183:8.74,0.00:0.00,0.00:8.74,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:32.7,6.7:0,0:0,0:67,70:83,80:5,45:NM_024525.4(TTC13) c.2310-204G>T,-:0.1,-:NOT_FOUND,- 1 231047143 rs6699285 A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.904,G/0.09605;Gene=TTC13/NM_001122835.2/0;CC=c.2147+73T>C;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.2309+73T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:17:0:0:9,9:301,272:0.00,26.07:0.00,26.53:0.00,-0.45:0.00,1.00:0.00,1.00:0.00,0.79:60,60:2.8,32.6:0,0:0,0:45,43:105,107:35,25:-,NM_024525.4(TTC13) c.2309+73T>C:-,0.1:-,NOT_FOUND 1 231047296 . C . . NT END=231048368;NT GT ./. 1 231047310 rs10580953 TAC T 57 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2824;Gene=TTC13/NM_001122835.2/0;CC=c.2068-17_2068-16delGT;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.2230-17_2230-16delGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TAC,T:36:19:0:18:1,17,18:11,527,591:0.08,0.00,57.16:0.21,0.00,15.33:-0.13,0.00,41.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:39.0,9.3,14.9:0,0,0:0,0,0:119,81,86:31,54,54:0,25,27:-,NM_024525.4(TTC13) c.2230-17_2230-16delGT:-,0.66:-,0.657415 1 231047392 rs2153049 G A 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.362,A/0.638;Gene=TTC13/NM_001122835.2/0;CC=c.2068-97C>T;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.2230-97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:2:0:0:8,8:256,274:24.60,0.00:1.49,0.00:23.11,0.00:1.00,0.00:0.79,0.00:1.00,0.00:60,60:34.1,15.8:0,0:0,0:136,107:15,43:5,33:NM_024525.4(TTC13) c.2230-97C>T,-:0.65,-:NOT_FOUND,- 1 231048505 . C . . NT END=231051938;NT GT ./. 1 231052049 . C . . NT END=231056255;NT GT ./. 1 231052183 rs7537655 G T 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3345,T/0.6655;PC=0.010;Gene=TTC13/NM_001122835.2/0;CC=c.1825-138C>A;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1984-135C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:13:0:0:0:6,7:203,213:0.00,20.71:0.00,0.00:0.00,20.71:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.7,70.1:0,0:0,0:106,107:45,43:32,16:-,NM_024525.4(TTC13) c.1984-135C>A:-,0.67:-,NOT_FOUND 1 231056341 . C . . NT END=231057166;NT GT ./. 1 231057247 rs2275333 A T 37 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.7855,T/0.2145;PC=0.468;Gene=TTC13/NM_001122835.2/0;CC=c.1659T>A;ProtCh=p.G553=;VC=Silent;Gene=TTC13/NM_024525.4/1;CC=c.1818T>A;ProtCh=p.G606=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:15:0:0:13,13:393,384:0.00,36.75:0.00,15.62:0.00,21.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.5,37.1:0,0:0,0:96,63:55,84:16,17:-,NM_024525.4(TTC13) c.1818T>A (p.(=)):-,0.21:-,0.168843 1 231057251 . C . . NT END=231059586;NT GT ./. 1 231057287 rs9432260 A C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8942,C/0.1058;PC=0.034;Gene=TTC13/NM_001122835.2/0;CC=c.1656-37T>G;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1815-37T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:10:0:0:9,10:271,319:0.00,30.99:0.00,10.10:0.00,20.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.2,50.0:0,0:0,0:96,127:51,21:7,16:-,NM_024525.4(TTC13) c.1815-37T>G:-,0.11:-,0.138683 1 231057310 rs2275334 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3355,T/0.6645;Gene=TTC13/NM_001122835.2/0;CC=c.1656-60G>A;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1815-60G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,T:16:6:0:0:9,7:274,184:0.00,16.95:0.00,2.97:0.00,13.98:0.00,0.98:0.00,0.96:0.00,0.98:60,60:29.1,65.6:0,0:0,0:118,104:32,46:12,32:-,NM_024525.4(TTC13) c.1815-60G>A:-,0.67:-,NOT_FOUND 1 231059680 . C . . NT END=231060586;NT GT ./. 1 231059784 rs3748774 C T 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.3351,T/0.6649;Gene=TTC13/NM_001122835.2/0;CC=c.1563-105G>A;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1722-105G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:4:0:0:13,15:443,495:0.00,48.26:0.00,7.01:0.00,41.25:0.00,1.00:0.00,0.95:0.00,1.00:60,60:1.0,34.6:0,0:0,0:132,102:19,48:17,27:-,NM_024525.4(TTC13) c.1722-105G>A:-,0.67:-,NOT_FOUND 1 231059955 rs2105166 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3355,A/0.6645;Gene=TTC13/NM_001122835.2/0;CC=c.1563-276C>T;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1722-276C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:6:0:0:0:4,2:133,62:13.55,0.00:0.00,0.00:13.55,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:37.5,0.0:0,0:0,0:92,89:58,61:20,51:NM_024525.4(TTC13) c.1722-276C>T,-:0.67,-:NOT_FOUND,- 1 231060311 rs190817604 T G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9635,G/0.03654;Gene=TTC13/NM_001122835.2/0;CC=c.1562+276A>C;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1721+276A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:G,T:5:5:0:0:3,2:91,64:9.07,0.00:9.07,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:30.3,17.5:0,0:0,0:27,12:123,137:11,10:NM_024525.4(TTC13) c.1721+276A>C,-:0.03,-:NOT_FOUND,- 1 231060720 . C . . NT END=231061262;NT GT ./. 1 231060914 rs9431903 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8942,T/0.1058;Gene=TTC13/NM_001122835.2/0;CC=c.1430-195G>A;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1589-195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,T:15:1:0:0:11,4:353,131:0.00,11.24:0.00,3.20:0.00,8.03:0.00,0.76:0.00,0.51:0.00,0.97:60,60:22.0,32.8:0,0:0,0:117,115:34,35:29,17:-,NM_024525.4(TTC13) c.1589-195G>A:-,0.11:-,NOT_FOUND 1 231061394 . C . . NT END=231064682;NT GT ./. 1 231064546 rs1343674 T C 84 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.09265,C/0.9073;PC=0.002;Gene=TTC13/NM_001122835.2/0;CC=c.1298+137A>G;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1457+137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:24:0:0:24:726:83.93:83.93:0.00:1.00:1.00:0.00:60:47.8:0:0:66:84:28:NM_024525.4(TTC13) c.1457+137A>G,NM_024525.4(TTC13) c.1457+137A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 1 231064578 rs5781609 T TCTC 19 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3359,TCCT/.,TCTC/0.6641;NP=2120;PC=0.007;Gene=TTC13/NM_001122835.2/0;CC=c.1298+104_1298+105insGAG;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1457+104_1457+105insGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCTC:22:22:7:0:1,14,7:29,420,213:1.76,0.00,18.84:1.77,0.00,18.93:-0.01,0.00,-0.08:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,0.55:60,60,60:57.0,38.6,52.0:0,1,0:0,0,0:0,94,69:150,55,81:0,15,12:-,NM_024525.4(TTC13) c.1457+104_1457+105insGAG:-,NOT_FOUND:-,NOT_FOUND 1 231064840 . C . . NT END=231067043;NT GT ./. 1 231065068 rs66812339 A AT 9 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5551,AT/0.4449,ATTT/.;DB;DBA=NA;PAF=A/0.5551,AT/0.4449,ATTTT/.,ATTTTTT/.,ATTTTTTT/.;DB;DBA=NA;PAF=A/0.5551,AT/0.4449;NP=6;PC=0.110;Gene=TTC13/NM_001122835.2/0;CC=c.1142-230_1142-229insA;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.1301-230_1301-229insA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,AT:9:0:5:0:6,3:169,164:0.00,9.02:0.00,0.00:0.00,9.02:0.00,0.60:0.00,0.00:0.00,0.60:60,60:18.2,12.0:0,2:0,0:127,61:23,90:18,17:-,NM_024525.4(TTC13) c.1301-230_1301-229insA:-,NOT_FOUND:-,NOT_FOUND 1 231067219 . C . . NT END=231067481;NT GT ./. 1 231067624 . C . . NT END=231069524;NT GT ./. 1 231069340 rs12749386 C T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8125,T/0.1875;Gene=TTC13/NM_001122835.2/0;CC=c.824+185G>A;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.983+185G>A;VC=Intron;DM=TTC13/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:10:10:0:0:6,4:140,130:0.00,12.00:0.00,12.00:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:47.5,36.8:0,0:0,0:58,70:92,81:18,40:-,NM_024525.4(TTC13) c.983+185G>A:-,0.19:-,NOT_FOUND 1 231069348 rs9431601 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.894,T/0.106;Gene=TTC13/NM_001122835.2/0;CC=c.824+177G>A;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.983+177G>A;VC=Intron;DM=TTC13/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:9:9:0:0:3,6:102,176:0.00,17.97:0.00,17.97:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:33.7,47.5:0,0:0,0:45,66:106,84:14,18:-,NM_024525.4(TTC13) c.983+177G>A:-,0.11:-,NOT_FOUND 1 231069608 . C . . NT END=231075131;NT GT ./. 1 231069652 rs1890351 A C 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3353,C/0.6647;PC=0.078;Gene=TTC13/NM_001122835.2/0;CC=c.742-45T>G;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.901-45T>G;VC=Intron;DM=TTC13/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:25:9:0:0:12,13:365,434:0.00,42.09:0.00,7.77:0.00,34.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,34.3:0,0:0,0:99,94:43,56:33,27:-,NM_024525.4(TTC13) c.901-45T>G:-,0.67:-,0.681671 1 231069814 rs1890352 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3351,C/0.6649;Gene=TTC13/NM_001122835.2/0;CC=c.742-207A>G;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.901-207A>G;VC=Intron;DM=TTC13/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:5:0:0:0:3,2:69,67:6.81,0.00:0.00,0.00:6.81,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:27.0,0.0:0,0:0,0:96,136:54,14:23,0:NM_024525.4(TTC13) c.901-207A>G,-:0.67,-:NOT_FOUND,- 1 231075243 . C . . NT END=231076185;NT GT ./. 1 231076303 . C . . NT END=231079551;NT GT ./. 1 231076580 rs2153051 C T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3401,T/0.6599;PC=0.001;Gene=TTC13/NM_001122835.2/0;CC=c.514-278G>A;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.673-278G>A;VC=Intron;DM=TTC13/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:7:0:0:0:3,4:95,125:0.00,12.33:0.00,0.00:0.00,12.33:0.00,0.90:0.00,0.00:0.00,0.90:60,60:17.0,61.8:0,0:0,0:117,85:33,65:10,16:-,NM_024525.4(TTC13) c.673-278G>A:-,0.67:-,NOT_FOUND 1 231079381 rs6541239 A G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1204,G/0.8796;Gene=TTC13/NM_001122835.2/0;CC=c.514-3079T>C;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.672+171T>C;VC=Intron;DM=TTC13/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:186:21.43:21.43:0.00:1.00:1.00:0.00:60:55.3:0:0:70:80:10:NM_024525.4(TTC13) c.672+171T>C,NM_024525.4(TTC13) c.672+171T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 231079645 . C . . NT END=231081134;NT GT ./. 1 231081201 . C . . NT END=231090078;NT GT ./. 1 231090150 . C . . NT END=231093969;NT GT ./. 1 231094046 . C . . NT END=231096954;NT GT ./. 1 231094050 rs60736833 GA G 74 idl,rn VT=DEL;SST=Single;DP=78;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=90;PC=0.851;Gene=TTC13/NM_001122835.2/0;CC=c.367-6delT;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.367-6delT;VC=Intron;DM=TTC13/TPR_11;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:74:50:9:27:4,38,7,25:71,1043,270,865:3.52,0.00,15.38,74.13:-0.42,0.00,9.23,34.66:3.94,0.00,6.16,39.46:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:78.2,24.9,18.6,14.1:1,2,2,2:0,0,0,0:90,114,67,82:59,31,83,66:8,26,26,24:-,NM_024525.4(TTC13) c.367-6delT:-,NOT_FOUND:-,NOT_FOUND 1 231094294 rs6541243 T C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2722,C/0.7278;Gene=TTC13/NM_001122835.2/0;CC=c.367-249A>G;VC=Intron;Gene=TTC13/NM_024525.4/1;CC=c.367-249A>G;VC=Intron;DM=TTC13/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:6:0:0:0:3,3:81,76:7.74,0.00:0.00,0.00:7.74,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:78.3,47.0:0,0:0,0:114,22:36,129:28,18:NM_024525.4(TTC13) c.367-249A>G,-:0.69,-:NOT_FOUND,- 1 231097050 . C . . NT END=231114305;NT GT ./. 1 231114420 rs114508011 A C 161 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.981,C/0.01897;PC=1.000;Gene=TTC13/NM_001122835.2/0;CC=c.157T>G;ProtCh=p.S53A;VC=Missense;Gene=TTC13/NM_024525.4/1;CC=c.157T>G;ProtCh=p.S53A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:118:101:0:0:66,52:1988,1718:0.00,161.44:0.00,130.31:0.00,31.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,69.4:0,0:0,0:45,59:99,88:21,33:-,NM_024525.4(TTC13) c.157T>G (p.Ser53Ala):-,0.04:-,NOT_FOUND 1 231114465 rs76376323 C G 182 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.7428,G/0.2572;PC=0.865;Gene=TTC13/NM_001122835.2/0;CC=c.112G>C;ProtCh=p.G38R;VC=Missense;Gene=TTC13/NM_024525.4/1;CC=c.112G>C;ProtCh=p.G38R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:142:113:0:0:1,77,64:11,2339,1936:-0.14,0.00,181.97:-0.04,0.00,114.47:-0.10,0.00,67.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:47.0,10.6,69.9:0,0,0:0,0,0:23,81,62:127,64,87:0,24,32:-,NM_024525.4(TTC13) c.112G>C (p.Gly38Arg):-,0.24:-,NOT_FOUND 1 231114577 . C . . NT END=231114851;NT GT ./. 1 231114595 rs11122174 C T 212 nt VT=SNV;PN=G;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.4888,T/0.5112;PC=1.000;Gene=TTC13/NM_001122835.2/0;CC=c.-19G>A;VC=5UTR;Gene=TTC13/NM_024525.4/1;CC=c.-19G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:142:87:0:0:71,71:2225,2210:0.00,212.04:0.00,86.63:0.00,125.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,42.5:0,0:0,0:74,78:75,63:36,38:-,NM_024525.4(TTC13) c.-19G>A:-,0.48:-,NOT_FOUND 1 231115026 . G . . NT END=231124065;NT GT ./. 1 231120105 . T TGTGTGTGTGCGC 8 nt VT=INS;SST=Single;DP=11;PC=0.105;Gene=ARV1/NM_022786.1/1;CC=c.175-3958_175-3957insTGTGTGCGCGTG;VC=Intron;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T,TGTGTGTGTGCGC:11:6:3:0:1,7,3:35,219,92:2.65,0.00,7.97:1.39,0.00,5.85:1.26,0.00,2.12:0.00,0.00,0.60:0.00,0.00,0.83:0.00,0.00,0.89:60,60,60:53.0,52.3,27.0:0,3,0:0,0,0:18,90,37:88,61,114:0,30,1:-,NM_022786.1(ARV1) c.175-3961_175-3960insGTGTGTGTGCGC:-,NOT_FOUND:-,NOT_FOUND 1 231120109 rs7525149 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=298;PC=0.023;Gene=ARV1/NM_022786.1/1;CC=c.175-3957C>T;VC=Intron;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T,I,D:12:6:1:1:7,3,1,1:170,94,24,33:0.00,8.16,1.54,2.44:0.00,7.08,-0.09,-0.09:0.00,1.08,1.63,2.53:0.00,0.59,0.00,0.00:0.00,0.80,0.00,0.00:0.00,0.87,0.00,0.00:60,60,60,60:31.1,80.0,69.0,0.0:0,0,0,0:0,0,0,0:64,125,77,28:84,24,74,122:12,1,0,0:-,NM_022786.1(ARV1) c.175-3957C>T:-,NOT_FOUND:-,NOT_FOUND 1 231124055 rs10779804 T C 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6152,C/0.3848;PC=0.002;Gene=ARV1/NM_022786.1/1;CC=c.175-11T>C;VC=Intron;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:24:0:0:16,18:529,558:50.32,0.00:25.62,0.00:24.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,17.8:0,0:0,0:50,49:90,99:39,28:NM_022786.1(ARV1) c.175-11T>C,-:0.38,-:0.338106,- 1 231124186 . G . . NT END=231125855;NT GT ./. 1 231124376 rs10779805 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6196,G/0.3804;Gene=ARV1/NM_022786.1/1;CC=c.294+191A>G;VC=Intron;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:6:0:0:0:2,4:67,130:0.00,13.25:0.00,0.00:0.00,13.25:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,66.8:0,0:0,0:80,108:70,42:6,7:-,NM_022786.1(ARV1) c.294+191A>G:-,0.36:-,NOT_FOUND 1 231124377 rs10779806 A G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6194,G/0.3806;Gene=ARV1/NM_022786.1/1;CC=c.294+192A>G;VC=Intron;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:6:0:0:0:2,4:68,137:0.00,13.95:0.00,0.00:0.00,13.95:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,66.8:0,0:0,0:81,109:69,41:6,7:-,NM_022786.1(ARV1) c.294+192A>G:-,0.36:-,NOT_FOUND 1 231126010 . G . . NT END=231131505;NT GT ./. 1 231126172 rs10864648 T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6194,G/0.3806;Gene=ARV1/NM_022786.1/1;CC=c.448+163T>G;VC=Intron;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1;DM=ARV1/Arv1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:G,T:13:0:0:0:5,8:142,251:12.82,0.00:0.00,0.00:12.82,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:40.6,27.1:0,0:0,0:133,97:18,53:17,33:NM_022786.1(ARV1) c.448+163T>G,-:0.37,-:NOT_FOUND,- 1 231131731 . G . . NT END=231132866;NT GT ./. 1 231133010 . A . . NT END=231155608;NT GT ./. 1 231155873 . C . . NT END=231175666;NT GT ./. 1 231156029 rs10864654 A G 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6745,G/0.3255;Gene=FAM89A/NM_198552.2/1;CC=c.292-157T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:1:0:0:15,8:486,232:0.00,20.56:0.00,-0.09:0.00,20.65:0.00,0.99:0.00,0.57:0.00,0.99:60,60:7.8,50.1:0,0:0,0:92,119:59,31:34,24:-,NM_198552.2(FAM89A) c.292-157T>C:-,0.38:-,NOT_FOUND 1 231156073 rs7513011 T A 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1799,A/0.8201;Gene=FAM89A/NM_198552.2/1;CC=c.292-201A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:A,T:12:0:0:0:4,8:120,268:10.59,0.00:0.00,0.00:10.59,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:62.5,5.5:0,0:0,0:72,91:78,59:30,33:NM_198552.2(FAM89A) c.292-201A>T,-:0.79,-:NOT_FOUND,- 1 231157721 rs4311872 T C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.5637,C/0.4363;PC=0.008;Gene=FAM89A/NM_198552.2/1;CC=c.292-1849A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:11:0:0:10,19:335,547:30.18,0.00:8.77,0.00:21.41,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:35.0,13.0:0,0:0,0:76,47:74,103:49,30:NM_198552.2(FAM89A) c.292-1849A>G,-:0.48,-:NOT_FOUND,- 1 231168110 rs12123464 C A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8245,A/0.1755;Gene=FAM89A/NM_198552.2/1;CC=c.291+7557G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:129:14.81:7.35:7.45:1.00:1.00:1.00:60:78.8:0:0:106:34:20:NM_198552.2(FAM89A) c.291+7557G>T,NM_198552.2(FAM89A) c.291+7557G>T:0.09,0.09:NOT_FOUND,NOT_FOUND 1 231168112 rs12142198 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7212,G/0.2788;Gene=FAM89A/NM_198552.2/1;CC=c.291+7555T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:197:22.56:10.33:12.23:1.00:1.00:1.00:60:75.0:0:0:95:44:33:NM_198552.2(FAM89A) c.291+7555T>C,NM_198552.2(FAM89A) c.291+7555T>C:0.23,0.23:NOT_FOUND,NOT_FOUND 1 231175615 rs61826695 C T 142 nt VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.9866,T/0.01338;Gene=FAM89A/NM_198552.2/1;CC=c.291+52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:82:0:0:41,44:1235,1462:0.00,141.63:0.00,126.65:0.00,14.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.4,38.4:0,0:0,0:51,37:100,114:32,27:-,NM_198552.2(FAM89A) c.291+52G>A:-,0.02:-,NOT_FOUND 1 231175644 rs12025055 C G 150 nt VT=SNV;PN=C;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.7772,G/0.2228;PC=0.012;Gene=FAM89A/NM_198552.2/1;CC=c.291+23G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:123:113:0:0:69,54:2142,1611:0.00,150.21:0.00,110.16:0.00,40.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.7,38.8:0,0:0,0:39,42:107,107:23,26:-,NM_198552.2(FAM89A) c.291+23G>C:-,0.23:-,NOT_FOUND 1 231175958 . c . . NT END=231298715;NT GT ./. 1 231276869 rs60954634 T TTG 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=30;NP=4;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TTG,D:7:5:3:1:3,3,1:50,87,30:0.00,8.31,2.44:0.00,7.00,-0.13:0.00,1.31,2.57:0.00,0.69,0.00:0.00,0.93,0.00:0.00,0.83,0.00:60,60,60:62.3,44.7,12.0:0,0,0:0,0,0:75,42,100:52,108,49:30,17,0:-,chr1 g.231276869_231276870insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 231299760 . G . . NT END=231320759;NT GT ./. 1 231320983 . C . . NT END=231321821;NT GT ./. 1 231321642 rs12096753 T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6869,C/0.3131;PC=0.002;Gene=TRIM67/NM_001004342.3/0;CC=c.1045-11475T>C;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.859-11475T>C;VC=Intron;Gene=LOC149373/NM_001256615.1/1;CC=c.149+180A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:9:9:0:0:3,6:107,161:9.65,0.00:9.65,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:60,60:69.0,6.2:0,0:0,0:53,17:98,134:36,12:NM_001004342.3(TRIM67) c.1045-11475T>C,-:0.27,-:NOT_FOUND,- 1 231321920 . C . . NT END=231323262;NT GT ./. 1 231322043 rs12096847 A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6951,G/0.3049;Gene=TRIM67/NM_001004342.3/0;CC=c.1045-11074A>G;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.859-11074A>G;VC=Intron;Gene=LOC149373/NM_001256615.1/1;CC=c.52-124T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:10,7:296,210:0.00,19.33:0.00,0.00:0.00,19.33:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.5,48.0:0,0:0,0:79,55:70,96:32,23:-,NM_001004342.3(TRIM67) c.1045-11074A>G:-,0.26:-,NOT_FOUND 1 231323086 rs76577070 C T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9938,T/0.00619;PC=0.003;Gene=TRIM67/NM_001004342.3/0;CC=c.1045-10031C>T;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.859-10031C>T;VC=Intron;Gene=LOC149373/NM_001256615.1/1;CC=c.51+177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:7:7:0:0:3,4:103,131:0.00,12.93:0.00,12.93:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:53.0,58.2:0,0:0,0:22,49:128,101:8,39:-,NM_001004342.3(TRIM67) c.1045-10031C>T:-,0.01:-,NOT_FOUND 1 231323140 rs6693752 T A 60 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.08966,T/0.9103;NP=12;PC=0.014;Gene=TRIM67/NM_001004342.3/0;CC=c.1045-9977T>A;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.859-9977T>A;VC=Intron;Gene=LOC149373/NM_001256615.1/1;CC=c.51+123A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:16:0:0:16:519:59.53:59.53:0.00:1.00:1.00:0.00:60:57.9:0:0:40:110:27:NM_001004342.3(TRIM67) c.1045-9977T>A,NM_001004342.3(TRIM67) c.1045-9977T>A:1,1:NOT_FOUND,NOT_FOUND 1 231323244 rs370215367 TA T 11 rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;Gene=TRIM67/NM_001004342.3/0;CC=c.1045-9861delA;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.859-9861delA;VC=Intron;Gene=LOC149373/NM_001256615.1/1;CC=c.51+18delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:TA,I,T:41:37:2:5:35,1,5:995,66,150:0.00,1.79,10.85:0.00,1.87,3.80:0.00,-0.08,7.05:0.00,0.00,0.76:0.00,0.00,0.96:0.00,0.00,0.82:60,60,60:25.3,34.0,15.8:0,1,0:0,0,0:45,57,13:101,93,137:31,36,7:-,NM_001004342.3(TRIM67) c.1045-9872delA:-,NOT_FOUND:-,NOT_FOUND 1 231323314 . T . . NT END=231333116;NT GT ./. 1 231323339 rs16853942 A G 82 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.8125,G/0.1875;PC=0.004;Gene=TRIM67/NM_001004342.3/0;CC=c.1045-9778A>G;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.859-9778A>G;VC=Intron;Gene=LOC149373/NM_001256615.1/1;CC=c.-26T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:32:0:0:25,28:810,850:0.00,82.36:0.00,31.56:0.00,50.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,44.0:0,0:0,0:88,89:44,58:19,29:-,NM_001256615.1(LOC149373) c.-26T>C:-,0.16:-,NOT_FOUND 1 231333213 . G . . NT END=231334792;NT GT ./. 1 231334780 rs11122249 C A 157 nt VT=SNV;PN=C;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.8492,A/0.1508;Gene=TRIM67/NM_001004342.3/0;CC=c.1141-13C>A;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.955-13C>A;VC=Intron;DM=TRIM67/zf-B_box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:94:79:0:0:49,45:1623,1472:157.39,0.00:118.51,0.00:38.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,3.6:0,0:0,0:71,56:77,92:35,29:NM_001004342.3(TRIM67) c.1141-13C>A,-:0.13,-:0.134136,- 1 231334916 . g . . NT END=231335893;NT GT ./. 1 231336005 . G . . NT END=231337103;NT GT ./. 1 231336124 rs12069815 T C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7953,C/0.2047;PC=0.250;Gene=TRIM67/NM_001004342.3/0;CC=c.1374+120T>C;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.1188+120T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:C,T:9:0:0:0:4,5:139,153:13.12,0.00:0.00,0.00:13.12,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:37.5,15.6:0,0:0,0:96,47:54,103:37,32:NM_001004342.3(TRIM67) c.1374+120T>C,-:0.18,-:NOT_FOUND,- 1 231337031 rs11122252 C A 99 nt VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.7955,A/0.2045;Gene=TRIM67/NM_001004342.3/0;CC=c.1375-73C>A;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.1189-73C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:52:49:0:0:33,18,1:975,604,11:98.75,0.00,0.07:89.80,0.00,-0.13:8.96,0.00,0.19:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:79.8,2.7,166.0:0,0,0:0,0,0:49,55,19:101,95,132:32,31,0:NM_001004342.3(TRIM67) c.1375-73C>A,-:0.18,-:NOT_FOUND,- 1 231337037 rs78871549 C T 104 nt VT=SNV;PN=T;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.9541,T/0.04593;Gene=TRIM67/NM_001004342.3/0;CC=c.1375-67C>T;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.1189-67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:52:0:0:20,35:638,1032:0.00,104.22:0.00,92.38:0.00,11.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.8,69.9:0,0:0,0:46,33:102,111:33,29:-,NM_001004342.3(TRIM67) c.1375-67C>T:-,0.04:-,NOT_FOUND 1 231337264 . G . . NT END=231339612;NT GT ./. 1 231339759 . G . . NT END=231342397;NT GT ./. 1 231342537 . G . . NT END=231344692;NT GT ./. 1 231344997 . G . . NT END=231349560;NT GT ./. 1 231349724 . G . . NT END=231351120;NT GT ./. 1 231349914 rs4658906 C A 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7346,A/0.2654;Gene=TRIM67/NM_001004342.3/0;CC=c.2286+191C>A;VC=Intron;Gene=TRIM67/NM_001300889.1/1;CC=c.2100+191C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:0:0:0:10,12:268,345:24.97,0.00:0.00,0.00:24.97,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:54.1,18.3:0,0:0,0:83,121:66,29:20,15:NM_001004342.3(TRIM67) c.2286+191C>A,-:0.27,-:NOT_FOUND,- 1 231352767 rs2281480 A G 203 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=A/0.5573,G/0.4427;PC=0.001;Gene=TRIM67/NM_001004342.3/0;CC=c.*1581A>G;VC=3UTR;Gene=TRIM67/NM_001300889.1/1;CC=c.*1581A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:160:110:0:0:87,72,1:2793,2159,11:0.00,202.59,-0.15:0.00,120.85,-0.04:0.00,81.75,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.1,36.0,91.0:0,0,0:0,0,0:60,80,61:86,70,76:33,37,0:-,NM_001004342.3(TRIM67) c.*1581A>G:-,0.42:-,NOT_FOUND 1 231353589 rs4658907 A G 199 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=A/0.7352,G/0.2648;PC=0.514;Gene=TRIM67/NM_001004342.3/0;CC=c.*2403A>G;VC=3UTR;Gene=TRIM67/NM_001300889.1/1;CC=c.*2403A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:140:102:0:0:70,70:2335,2075:0.00,198.53:0.00,96.32:0.00,102.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,45.0:0,0:0,0:74,63:65,78:33,30:-,NM_001004342.3(TRIM67) c.*2403A>G:-,0.27:-,NOT_FOUND 1 231353710 rs111420919 C T 201 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=NA;NP=14;Gene=TRIM67/NM_001004342.3/0;CC=c.*2524C>T;VC=3UTR;Gene=TRIM67/NM_001300889.1/1;CC=c.*2524C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:144:102:0:0:77,67:2477,2123:0.00,201.04:0.00,115.83:0.00,85.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,42.5:0,0:0,0:69,65:73,86:30,31:-,NM_001004342.3(TRIM67) c.*2524C>T:-,0.0018:-,NOT_FOUND 1 231355058 rs10864675 C T 128 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.7364,T/0.2636;Gene=TRIM67/NM_001004342.3/0;CC=c.*3872C>T;VC=3UTR;Gene=TRIM67/NM_001300889.1/1;CC=c.*3872C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:63:0:0:44,41:1348,1335:0.00,127.52:0.00,80.63:0.00,46.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,68.2:0,0:0,0:45,59:105,89:25,34:-,NM_001004342.3(TRIM67) c.*3872C>T:-,0.27:-,NOT_FOUND 1 231355070 rs524331 G A 138 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.5294,A/0.4706;Gene=TRIM67/NM_001004342.3/0;CC=c.*3884G>A;VC=3UTR;Gene=TRIM67/NM_001300889.1/1;CC=c.*3884G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:69:0:0:44,46:1440,1412:137.92,0.00:80.84,0.00:57.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.0,10.6:0,0:0,0:68,40:83,107:39,21:NM_001004342.3(TRIM67) c.*3884G>A,-:0.44,-:NOT_FOUND,- 1 231355699 . c . . NT END=231360024;NT GT ./. 1 231360161 . C . . NT END=231361216;NT GT ./. 1 231361270 . C . . NT END=231362484;NT GT ./. 1 231361505 rs566796 G T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6438,T/0.3562;Gene=C1orf131/NM_001300830.1/1;CC=c.691-236C>A;VC=Intron;Gene=C1orf131/NM_152379.3/0;CC=c.694-236C>A;VC=Intron;DM=C1orf131/DUF4602 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T:4:0:0:0:1,3:33,101:0.00,10.55:0.00,0.00:0.00,10.55:0.00,0.85:0.00,0.00:0.00,0.85:60,60:23.0,49.3:0,0:0,0:26,114:125,37:0,2:-,NM_152379.2(C1orf131) c.694-236C>A:-,0.35:-,NOT_FOUND 1 231362572 . C . . NT END=231362718;NT GT ./. 1 231362815 . C . . NT END=231364895;NT GT ./. 1 231362923 rs491182 G A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6751,A/0.3249;Gene=C1orf131/NM_001300830.1/1;CC=c.508-109C>T;VC=Intron;Gene=C1orf131/NM_152379.3/0;CC=c.511-109C>T;VC=Intron;DM=C1orf131/DUF4602 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:2:0:0:10,11:309,362:29.34,0.00:1.45,0.00:27.89,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:37.8,10.7:0,0:0,0:108,83:42,68:23,16:NM_152379.2(C1orf131) c.511-109C>T,-:0.32,-:NOT_FOUND,- 1 231364956 . C . . NT END=231374602;NT GT ./. 1 231374935 . C . . NT END=231376769;NT GT ./. 1 231376888 . T . . NT END=231377124;NT GT ./. 1 231377081 rs518686 C T 71 nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.4181,T/0.5819;PC=0.266;Gene=GNPAT/NM_001316350/0;CC=c.-44C>T;VC=5UTR;Gene=GNPAT/NM_014236.3/1;CC=c.-44C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:34:0:0:20,25:684,728:0.00,71.23:0.00,43.74:0.00,27.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,38.0:0,0:0,0:50,29:94,121:17,20:-,NM_014236.3(GNPAT) c.-44C>T:-,0.55:-,0.5509 1 231377203 . G . . NT END=231386706;NT GT ./. 1 231386612 rs508908 T A 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3682,A/0.6318;Gene=GNPAT/NM_001316350/0;CC=c.78+9410T>A;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.79-95T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:19:0:0:9,11:300,318:28.33,0.00:19.66,0.00:8.68,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:36.7,8.5:0,0:0,0:35,41:116,104:34,24:NM_014236.3(GNPAT) c.79-95T>A,-:0.59,-:NOT_FOUND,- 1 231386890 . G . . NT END=231396252;NT GT ./. 1 231396116 rs3215759 T TTA 9 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3686,TAT/.,TTA/0.6314;NP=1541;PC=0.001;Gene=GNPAT/NM_001316350/0;CC=c.79-136_79-135insAT;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.262-136_262-135insAT;VC=Intron;DM=GNPAT/Acyltransferase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:T,TTA:12:12:3:0:9,3:263,101:0.00,8.61:0.00,8.61:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:4.2,0.0:0,0:0,0:61,114:90,35:37,2:-,NM_014236.3(GNPAT) c.262-137_262-136insTA:-,0.59:-,NOT_FOUND 1 231396430 . G . . NT END=231398468;NT GT ./. 1 231398599 . G . . NT END=231401038;NT GT ./. 1 231400885 rs112914681 G A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2;PC=0.002;Gene=GNPAT/NM_001316350/0;CC=c.386-154G>A;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.569-154G>A;VC=Intron;DM=GNPAT/Acyltransferase;DM=GNPAT/Acyltransferase;DM=GNPAT/Acyltransferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,G:13:13:0:0:7,6:232,183:22.65,0.00:20.91,0.00:1.74,0.00:0.99,0.00:0.99,0.00:0.82,0.00:60,60:67.4,6.2:0,0:0,0:13,41:133,108:5,34:NM_014236.3(GNPAT) c.569-154G>A,-:0.0018,-:NOT_FOUND,- 1 231400905 rs849714 A G 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3866,G/0.6134;PC=0.001;Gene=GNPAT/NM_001316350/0;CC=c.386-134A>G;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.569-134A>G;VC=Intron;DM=GNPAT/Acyltransferase;DM=GNPAT/Acyltransferase;DM=GNPAT/Acyltransferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,G:14:13:0:0:6,8:177,272:0.00,26.87:0.00,21.70:0.00,5.17:0.00,1.00:0.00,1.00:0.00,0.93:60,60:6.2,63.0:0,0:0,0:61,31:88,115:34,8:-,NM_014236.3(GNPAT) c.569-134A>G:-,0.58:-,NOT_FOUND 1 231401167 . G . . NT END=231401457;NT GT ./. 1 231401534 . G . . NT END=231401759;NT GT ./. 1 231401596 rs532226 T C 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4247,C/0.5753;Gene=GNPAT/NM_001316350/0;CC=c.589+63T>C;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.772+63T>C;VC=Intron;DM=GNPAT/Acyltransferase;DM=GNPAT/Acyltransferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:15:0:0:14,18:421,584:39.24,0.00:16.52,0.00:22.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,18.2:0,0:0,0:87,110:61,40:35,28:NM_014236.3(GNPAT) c.772+63T>C,-:0.55,-:0.545554,- 1 231401902 rs574553 G A 112 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.3714,A/0.6286;PC=1.000;Gene=GNPAT/NM_001316350/0;CC=c.732G>A;ProtCh=p.E244=;VC=Silent;Gene=GNPAT/NM_014236.3/1;CC=c.915G>A;ProtCh=p.E305=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:83:57:0:0:38,45:1184,1451:111.63,0.00:74.68,0.00:36.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,12.7:0,0:0,0:74,70:72,72:31,46:NM_014236.3(GNPAT) c.915G>A (p.(=)),-:0.59,-:0.594802,- 1 231401912 . G . . NT END=231402022;NT GT ./. 1 231402154 . G . . NT END=231403425;NT GT ./. 1 231403265 rs474297 T C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4237,C/0.5763;Gene=GNPAT/NM_001316350/0;CC=c.873-161T>C;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.1056-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:C,T:12:12:0:0:6,6:184,151:17.68,0.00:17.68,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:30.7,20.2:0,0:0,0:40,33:110,116:16,12:NM_014236.3(GNPAT) c.1056-161T>C,-:0.55,-:NOT_FOUND,- 1 231403650 . G . . NT END=231406503;NT GT ./. 1 231403830 rs579924 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4237,T/0.5763;PC=0.007;Gene=GNPAT/NM_001316350/0;CC=c.1096+181C>T;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.1279+181C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,T:11:2:0:0:4,7:109,229:0.00,23.12:0.00,5.37:0.00,17.75:0.00,1.00:0.00,0.89:0.00,1.00:60,60:20.2,52.7:0,0:0,0:69,72:81,79:39,33:-,NM_014236.3(GNPAT) c.1279+181C>T:-,0.55:-,NOT_FOUND 1 231403966 rs525427 A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3866,G/0.6134;Gene=GNPAT/NM_001316350/0;CC=c.1096+317A>G;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.1279+317A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:2:0:0:1,3:33,72:0.00,7.59:0.00,4.64:0.00,2.95:0.00,0.85:0.00,0.95:0.00,0.95:23,60:0.0,46.7:0,0:0,0:113,142:38,8:0,4:-,NM_014236.3(GNPAT) c.1279+317A>G:-,0.56:-,NOT_FOUND 1 231406295 rs3767758 T C 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4247,C/0.5753;PC=0.110;Gene=GNPAT/NM_001316350/0;CC=c.1097-209T>C;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.1280-209T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:8,9:256,275:24.28,0.00:24.28,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:36.9,5.7:0,0:0,0:38,60:113,90:28,20:NM_014236.3(GNPAT) c.1280-209T>C,-:0.55,-:NOT_FOUND,- 1 231406747 . G . . NT END=231408057;NT GT ./. 1 231406961 rs539699 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3716,T/0.6284;PC=0.033;Gene=GNPAT/NM_001316350/0;CC=c.1339+215C>T;VC=Intron;Gene=GNPAT/NM_014236.3/1;CC=c.1522+215C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:10:0:0:0:5,5:137,164:0.00,15.78:0.00,0.00:0.00,15.78:0.00,0.95:0.00,0.00:0.00,0.95:60,60:19.6,40.4:0,0:0,0:60,107:89,44:43,3:-,NM_014236.3(GNPAT) c.1522+215C>T:-,0.59:-,NOT_FOUND 1 231408091 rs11558492 A G 65 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=in-clinvar;PAF=A/0.8644,G/0.1356,T/.;PC=0.814;Gene=GNPAT/NM_001316350/0;CC=c.1373A>G;ProtCh=p.D458G;VC=Missense;Gene=GNPAT/NM_014236.3/1;CC=c.1556A>G;ProtCh=p.D519G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:22:0:0:16,21:527,660:0.00,64.98:0.00,25.76:0.00,39.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,42.0:0,0:0,0:66,62:76,82:40,20:-,NM_014236.3(GNPAT) c.1556A>G (p.Asp519Gly):-,0.14:-,0.167154 1 231408138 . G . . NT END=231409667;NT GT ./. 1 231409809 . G . . NT END=231410966;NT GT ./. 1 231411067 . G . . NT END=231411150;NT GT ./. 1 231411245 . G . . NT END=231411880;NT GT ./. 1 231411943 . G . . NT END=231413244;NT GT ./. 1 231413289 . T . . NT END=231471313;NT GT ./. 1 231473492 . T . . NT END=231474129;NT GT ./. 1 231474351 . G . . NT END=231475514;NT GT ./. 1 231475615 . G . . NT END=231483542;NT GT ./. 1 231483672 . G . . NT END=231487049;NT GT ./. 1 231486951 rs55660242 TA T 95 idl,rn VT=DEL;SST=Single;DP=224;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.055;Gene=SPRTN/NM_001010984.3/0;CC=c.451-75delA;VC=Intron;Gene=SPRTN/NM_001261462.2/0;CC=c.322-75delA;VC=Intron;Gene=SPRTN/NM_032018.6/1;CC=c.451-75delA;VC=Intron;DM=SPRTN/SprT-like;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,C,G,TA,I,T:207:195:45:52:4,1,1,127,37,37:108,12,11,3694,1405,1421:5.18,-0.15,-0.16,0.00,94.93,95.03:1.13,-0.18,-0.12,0.00,79.04,76.40:4.05,0.03,-0.04,0.00,15.89,18.64:0.00,0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00,1.00:60,60,60,60,60,60:37.0,12.0,63.0,32.3,50.5,30.1:0,0,0,0,8,9:0,0,0,0,0,0:16,28,119,65,42,25:122,101,25,77,101,104:9,0,0,47,21,21:-,NM_032018.5(SPRTN) c.451-98delA:-,NOT_FOUND:-,NOT_FOUND 1 231487993 rs203742 T C 122 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.9239,C/0.07608;Gene=SPRTN/NM_001010984.3/0;CC=c.*641T>C;VC=3UTR;Gene=SPRTN/NM_001261462.2/0;CC=c.*641T>C;VC=3UTR;Gene=SPRTN/NM_032018.6/1;CC=c.719-363T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:49:0:0:39,42:1278,1346:122.06,0.00:55.24,0.00:66.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.8,6.7:0,0:0,0:68,71:83,76:44,28:NM_032018.5(SPRTN) c.719-363T>C,-:0.08,-:NOT_FOUND,- 1 231488085 rs203743 G C 135 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.9239,C/0.07608;PC=0.001;Gene=SPRTN/NM_001010984.3/0;CC=c.*733G>C;VC=3UTR;Gene=SPRTN/NM_001261462.2/0;CC=c.*733G>C;VC=3UTR;Gene=SPRTN/NM_032018.6/1;CC=c.719-271G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:96:59:0:0:45,51:1421,1563:134.73,0.00:61.50,0.00:73.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.0,9.0:0,0:0,0:82,55:57,93:31,37:NM_032018.5(SPRTN) c.719-271G>C,-:0.08,-:NOT_FOUND,- 1 231489539 rs203744 A G 80 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.9241,G/0.07588;Gene=SPRTN/NM_001010984.3/0;CC=c.*2187A>G;VC=3UTR;Gene=SPRTN/NM_001261462.2/0;CC=c.*2187A>G;VC=3UTR;Gene=SPRTN/NM_032018.6/1;CC=c.*432A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:63:39:0:0:36,26,1:1134,859,10:0.00,79.98,-0.10:0.00,45.05,0.04:0.00,34.93,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.3,43.7,53.0:0,0,0:0,0,0:98,59,6:44,90,145:26,23,0:-,NM_032018.5(SPRTN) c.*432A>G:-,0.08:-,NOT_FOUND 1 231490184 . t . . NT END=231490675;NT GT ./. 1 231490770 . T . . NT END=231502156;NT GT ./. 1 231502222 . C . . NT END=231503314;NT GT ./. 1 231502230 rs371155853 TA T 14 idl,rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=36;Gene=EGLN1/NM_022051.2/1;CC=c.1217-10delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:TA,I,T:60:38:5:11:49,5,6:1456,159,355:0.00,11.02,14.30:0.00,4.82,7.22:0.00,6.20,7.08:0.00,0.00,0.81:0.00,0.00,0.92:0.00,0.00,0.96:60,60,60:8.4,21.0,9.7:0,0,5:0,0,0:92,125,105:47,25,46:26,1,19:-,NM_022051.2(EGLN1) c.1217-10delT:-,NOT_FOUND:-,NOT_FOUND 1 231503383 . C . . NT END=231505299;NT GT ./. 1 231505353 . A . . NT END=231506307;NT GT ./. 1 231506445 . C . . NT END=231509725;NT GT ./. 1 231509846 . C . . NT END=231556743;NT GT ./. 1 231556395 rs1339891 C T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8155,T/0.1845;Gene=EGLN1/NM_022051.2/1;CC=c.891+349G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:5:5:0:0:2,3:66,103:0.00,10.27:0.00,10.27:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:12.0,34.3:0,0:0,0:40,93:110,58:22,33:-,NM_022051.2(EGLN1) c.891+349G>A:-,0.19:-,NOT_FOUND 1 231557635 . g . . NT END=231664556;NT GT ./. 1 231664573 . G . . NT END=231665000;NT GT ./. 1 231665106 . G . . NT END=231672958;NT GT ./. 1 231667877 . AACACACACACACACACACACACACACAC A 7 sb,nt VT=DEL;SST=Single;DP=4;PC=0.003;Gene=TSNAX/NM_005999.2/1;CC=c.121+2800_121+2827delCACACACACACACACACACACACACACA;VC=Intron;Gene=TSNAX-DISC1/NR_028399.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AACACACACACACACACACACACACACAC,A:4:4:0:3:1,3:33,69:0.00,7.34:0.00,5.81:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,25.7:0,0:0,0:41,36:28,86:0,6:-,NM_005999.2(TSNAX) c.121+2773_121+2800delACACACACACACACACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 1 231672757 rs539795922 TTA T 17 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=2;Gene=TSNAX/NM_005999.2/1;CC=c.122-201_122-200delTA;VC=Intron;Gene=TSNAX-DISC1/NR_028399.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:TTA,T:15:15:0:6:9,6:264,182:0.00,16.68:0.00,16.68:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:12.9,28.3:0,0:0,0:31,32:119,118:24,4:-,NM_005999.2(TSNAX) c.122-201_122-200delTA:-,NOT_FOUND:-,NOT_FOUND 1 231673074 . G . . NT END=231678226;NT GT ./. 1 231673208 rs12063474 T G 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8379,G/0.1621;PC=0.005;Gene=TSNAX/NM_005999.2/1;CC=c.236+135T>G;VC=Intron;Gene=TSNAX-DISC1/NR_028399.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;DM=TSNAX/Translin;DM=TSNAX/Translin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G,T:13:0:0:0:12,1:366,11:40.91,0.00:0.00,0.00:40.91,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.3,9.0:0,0:0,0:109,130:41,21:29,0:NM_005999.2(TSNAX) c.236+135T>G,NM_005999.2(TSNAX) c.236+135T>G:0.19,0.19:NOT_FOUND,NOT_FOUND 1 231678358 . G . . NT END=231696873;NT GT ./. 1 231697002 . G . . NT END=231700273;NT GT ./. 1 231697030 rs1982095 G A 155 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5399,A/0.4601;Gene=TSNAX/NM_005999.2/1;CC=c.495+29G>A;VC=Intron;Gene=TSNAX-DISC1/NR_028399.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;DM=TSNAX/Translin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A,G:44:18:0:0:43,1:1361,11:154.77,0.00:39.19,0.00:115.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,189.0:0,0:0,0:95,122:55,28:33,0:NM_005999.2(TSNAX) c.495+29G>A,NM_005999.2(TSNAX) c.495+29G>A:0.45,0.45:0.435341,0.435341 1 231699966 rs1655284 C T 49 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.2921,T/0.7079;PC=0.328;Gene=TSNAX/NM_005999.2/1;CC=c.496-308C>T;VC=Intron;Gene=TSNAX-DISC1/NR_028399.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;DM=TSNAX/Translin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:423:48.94:48.94:0.00:1.00:1.00:0.00:60:54.5:0:0:28:122:26:NM_005999.2(TSNAX) c.496-308C>T,NM_005999.2(TSNAX) c.496-308C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 1 231700652 . A . . NT END=231762613;NT GT ./. 1 231762398 rs142163564 C CTG 11 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;NP=2;NP=223;Gene=TSNAX-DISC1/NR_028399.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,CTG:5:4:4:0:1,4:12,104:0.00,11.25:0.00,7.57:0.00,3.68:0.00,0.96:0.00,1.00:0.00,0.87:60,60:17.0,0.0:0,0:0,0:21,85:130,65:0,21:-,NR_028393.1(TSNAX-DISC1) n.788+9746_788+9747insTG:-,NOT_FOUND:-,NOT_FOUND 1 231762681 . G . . NT END=231829571;NT GT ./. 1 231830295 rs3738401 G A 931 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=254;DB;DBA=in-clinvar;PAF=G/0.7678,A/0.2322;Gene=TSNAX-DISC1/NR_028399.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164554.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001012958.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164550.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164552.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164553.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164551.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164555.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164549.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164544.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164545.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164548.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164556.1/0;CC=c.68-55377G>A;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001012959.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164542.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164546.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164538.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164541.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164547.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001012957.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164537.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_001164540.1/0;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense;Gene=DISC1/NM_018662.2/1;CC=c.791G>A;ProtCh=p.R264Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:254:156:0:0:250,1,2,1:8166,8,20,11:931.25,0.02,0.00,0.05:446.52,-0.00,0.00,-0.00:484.72,0.03,0.00,0.06:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,30:41.3,17.0,13.5,125.0:0,0,0,0:0,0,0,0:78,79,88,81:67,72,62,26:37,0,47,0:NM_018662.2(DISC1) c.791G>A (p.Arg264Gln),NM_018662.2(DISC1) c.791G>A (p.Arg264Gln):0.28,0.28:0.260034,0.260034 1 231830552 . G . . NT END=231837700;NT GT ./. 1 231838308 . G . . NT END=231856593;NT GT ./. 1 231856671 . G . . NT END=231856692;NT GT ./. 1 231856819 . G . . NT END=231858284;NT GT ./. 1 231858817 . g . . NT END=231859034;NT GT ./. 1 231858993 rs398074733 GA G 175 rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=GA/0.02356,G/0.9764;DB;DBA=NA;PAF=GA/0.02356,G/0.9764;DB;DBA=NA;PAF=GA/0.02356,G/0.9764;NP=8;PC=0.010;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001012958.1/0;CC=c.*654delA;VC=3UTR;Gene=DISC1/NM_001164550.1/0;CC=c.*670delA;VC=3UTR;Gene=DISC1/NM_001164552.1/0;CC=c.*747delA;VC=3UTR;Gene=DISC1/NM_001164553.1/0;CC=c.*670delA;VC=3UTR;Gene=DISC1/NM_001164551.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164555.1/0;CC=c.1048-26671delA;VC=Intron;Gene=DISC1/NM_001164549.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164544.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.68-26671delA;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1117+21231delA;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1117+21231delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:GA,G:57:50:0:52:5,52:159,1573:0.00,174.70:0.00,141.73:0.00,32.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,11.8:0,0:0,0:145,58:5,90:5,28:-,NM_018662.2(DISC1) c.1117+21224delA:-,0.97:-,NOT_FOUND 1 231859181 rs11122324 G A 342 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.6362,A/0.3638,T/.;Gene=TSNAX-DISC1/NR_028400.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001012958.1/0;CC=c.*834G>A;VC=3UTR;Gene=DISC1/NM_001164550.1/0;CC=c.*850G>A;VC=3UTR;Gene=DISC1/NM_001164552.1/0;CC=c.*927G>A;VC=3UTR;Gene=DISC1/NM_001164553.1/0;CC=c.*850G>A;VC=3UTR;Gene=DISC1/NM_001164551.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164555.1/0;CC=c.1048-26491G>A;VC=Intron;Gene=DISC1/NM_001164549.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164544.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.68-26491G>A;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1117+21411G>A;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1117+21411G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:97:55:0:0:96,1:2981,10:341.91,0.00:147.62,0.00:194.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,130.0:0,0:0,0:76,60:66,71:35,0:NM_018662.2(DISC1) c.1117+21411G>A,NM_018662.2(DISC1) c.1117+21411G>A:0.4,0.4:NOT_FOUND,NOT_FOUND 1 231859821 . a . . NT END=231885671;NT GT ./. 1 231886366 . a . . NT END=231902885;NT GT ./. 1 231903016 . G . . NT END=231906580;NT GT ./. 1 231903332 rs2793100 T C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.03235,C/0.9677;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164549.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164544.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.348+317T>C;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1398+317T>C;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1494+317T>C;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1268+17510T>C;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1398+317T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:159:18.70:0.00:18.70:1.00:0.00:1.00:60:28.0:0:0:125:25:9:NM_018662.2(DISC1) c.1398+317T>C,NM_018662.2(DISC1) c.1398+317T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 231907409 . t . . NT END=231930987;NT GT ./. 1 231931043 . G . . NT END=231935853;NT GT ./. 1 231931048 rs2273890 T C 58 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.8956,C/0.1044;PC=0.911;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1635-23027T>C;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.585-23027T>C;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+24232T>C;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+24232T>C;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1689+6T>C;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1785+6T>C;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1323+6T>C;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1689+6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:27:0:0:18,22:610,672:57.63,0.00:22.67,0.00:34.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,21.5:0,0:0,0:96,79:53,71:28,28:NM_018662.2(DISC1) c.1689+6T>C,-:0.12,-:0.127403,- 1 231935699 rs4658884 T C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3045,C/0.6955;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.1690-155T>C;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1689+4657T>C;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1635-18376T>C;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.585-18376T>C;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1690-155T>C;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1690-155T>C;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1690-155T>C;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+28883T>C;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1690-155T>C;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1690-155T>C;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+28883T>C;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1690-155T>C;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1786-155T>C;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1324-155T>C;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1690-155T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:C,T:13:13:0:0:4,9:132,261:11.64,0.00:11.64,0.00:0.00,0.00:0.79,0.00:0.79,0.00:0.00,0.00:60,60:54.8,27.4:0,0:0,0:31,32:119,118:10,25:NM_018662.2(DISC1) c.1690-155T>C,-:0.69,-:NOT_FOUND,- 1 231935919 . A G 96 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=69;PC=0.014;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent;Gene=DISC1/NM_001164545.1/0;CC=c.1689+4877A>G;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1635-18156A>G;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.585-18156A>G;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent;Gene=DISC1/NM_001012959.1/0;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent;Gene=DISC1/NM_001164542.1/0;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent;Gene=DISC1/NM_001164546.1/0;CC=c.1634+29103A>G;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent;Gene=DISC1/NM_001164541.1/0;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent;Gene=DISC1/NM_001164547.1/0;CC=c.1634+29103A>G;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent;Gene=DISC1/NM_001164537.1/0;CC=c.1851A>G;ProtCh=p.L617=;VC=Silent;Gene=DISC1/NM_001164540.1/0;CC=c.1389A>G;ProtCh=p.L463=;VC=Silent;Gene=DISC1/NM_018662.2/1;CC=c.1755A>G;ProtCh=p.L585=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:45:0:0:40,29:1278,1028:0.00,96.25:0.00,40.14:0.00,56.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,44.6:0,0:0,0:86,82:54,59:27,27:-,NM_018662.2(DISC1) c.1755A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 231935957 . G . . NT END=231954074;NT GT ./. 1 231936016 rs2759354 A G 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.01158,G/0.9884;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.1792+60A>G;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1689+4974A>G;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1635-18059A>G;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.585-18059A>G;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1792+60A>G;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1792+60A>G;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1792+60A>G;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+29200A>G;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1792+60A>G;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1792+60A>G;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+29200A>G;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1792+60A>G;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1888+60A>G;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1426+60A>G;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1792+60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:4:0:0:21:723:82.31:8.05:74.26:1.00:1.00:1.00:60:55.6:0:0:115:36:20:NM_018662.2(DISC1) c.1792+60A>G,NM_018662.2(DISC1) c.1792+60A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 231936150 rs2255340 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2796,C/0.7204;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.1792+194T>C;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1689+5108T>C;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1635-17925T>C;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.585-17925T>C;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1792+194T>C;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1792+194T>C;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1792+194T>C;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+29334T>C;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1792+194T>C;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1792+194T>C;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+29334T>C;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1792+194T>C;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1888+194T>C;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1426+194T>C;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1792+194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:C,T:10:0:0:0:5,5:166,165:15.97,0.00:0.00,0.00:15.97,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:52.2,2.0:0,0:0,0:120,117:31,33:26,1:NM_018662.2(DISC1) c.1792+194T>C,-:0.72,-:NOT_FOUND,- 1 231953994 rs6672782 C G 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.9044,G/0.09565;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.1793-81C>G;VC=Intron;Gene=DISC1/NM_001164545.1/0;CC=c.1690-81C>G;VC=Intron;Gene=DISC1/NM_001164548.1/0;CC=c.1635-81C>G;VC=Intron;Gene=DISC1/NM_001164556.1/0;CC=c.585-81C>G;VC=Intron;Gene=DISC1/NM_001164539.1/0;CC=c.1793-81C>G;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1793-81C>G;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1793-81C>G;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+47178C>G;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1793-81C>G;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1793-81C>G;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+47178C>G;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1793-81C>G;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.1889-81C>G;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1427-81C>G;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1793-81C>G;VC=Intron;Gene=DISC2/NR_002227.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:28:27:0:0:19,9:635,268:0.00,23.43:0.00,21.89:0.00,1.54:0.00,0.99:0.00,1.00:0.00,0.71:60,60:3.0,58.7:0,0:0,0:46,72:103,79:33,32:-,NR_002227.2(DISC2) n.270G>C:-,0.09:-,NOT_FOUND 1 231954101 rs6675281 C T 124 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=70;DB;DBA=in-clinvar;PAF=C/0.9042,T/0.09585;PC=1.000;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC1/NM_001164545.1/0;CC=c.1716C>T;ProtCh=p.T572=;VC=Silent;Gene=DISC1/NM_001164548.1/0;CC=c.*5C>T;VC=3UTR;Gene=DISC1/NM_001164556.1/0;CC=c.*5C>T;VC=3UTR;Gene=DISC1/NM_001164539.1/0;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC1/NM_001012959.1/0;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC1/NM_001164542.1/0;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC1/NM_001164546.1/0;CC=c.1634+47285C>T;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC1/NM_001164541.1/0;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC1/NM_001164547.1/0;CC=c.1634+47285C>T;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC1/NM_001164537.1/0;CC=c.1915C>T;ProtCh=p.L639F;VC=Missense;Gene=DISC1/NM_001164540.1/0;CC=c.1453C>T;ProtCh=p.L485F;VC=Missense;Gene=DISC1/NM_018662.2/1;CC=c.1819C>T;ProtCh=p.L607F;VC=Missense;Gene=DISC2/NR_002227.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:56:0:0:33,37:1089,1275:0.00,124.18:0.00,93.57:0.00,30.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,41.7:0,0:0,0:69,52:71,98:34,26:-,NM_018662.2(DISC1) c.1819C>T (p.Leu607Phe):-,0.09:-,0.153698 1 231954517 rs145427524 A G 194 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=A/0.9968,G/0.003195;NP=3;PC=0.002;Gene=TSNAX-DISC1/NR_028394.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028395.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028396.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028397.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028398.1/0;VC=NonCoding;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164544.1/0;CC=c.*246A>G;VC=3UTR;Gene=DISC1/NM_001164545.1/0;CC=c.*392A>G;VC=3UTR;Gene=DISC1/NM_001164548.1/0;CC=c.*421A>G;VC=3UTR;Gene=DISC1/NM_001164556.1/0;CC=c.*421A>G;VC=3UTR;Gene=DISC1/NM_001164539.1/0;CC=c.1981+254A>G;VC=Intron;Gene=DISC1/NM_001012959.1/0;CC=c.1981+254A>G;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1981+254A>G;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+47701A>G;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1981+254A>G;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1981+254A>G;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+47701A>G;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1981+254A>G;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.2077+254A>G;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1615+254A>G;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1981+254A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:135:78:0:0:68,67:2077,2024:0.00,193.64:0.00,93.17:0.00,100.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,44.3:0,0:0,0:61,75:85,75:29,33:-,NM_018662.2(DISC1) c.1981+254A>G:-,0.0041:-,NOT_FOUND 1 231954991 . A . . NT END=231990741;NT GT ./. 1 231991030 rs35424273 CAT C 87 PASS VT=DEL;SST=Single;DP=67;DB;DBA=NA;PAF=CAT/0.8321,C/0.1679;NP=246;PC=0.001;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164539.1/0;CC=c.*262_*263delAT;VC=3UTR;Gene=DISC1/NM_001012959.1/0;CC=c.1982-11236_1982-11235delAT;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1981+36770_1981+36771delAT;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+84217_1634+84218delAT;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1981+36770_1981+36771delAT;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1981+36770_1981+36771delAT;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+84217_1634+84218delAT;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1981+36770_1981+36771delAT;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.2077+36770_2077+36771delAT;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1615+36770_1615+36771delAT;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1981+36770_1981+36771delAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAT,C:67:38:0:29:38,29:1187,928:0.00,86.77:0.00,28.57:0.00,58.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,13.9:0,0:0,0:73,84:73,62:33,36:-,NM_018662.2(DISC1) c.1981+36768_1981+36769delAT:-,0.16:-,NOT_FOUND 1 231991127 . T . . NT END=232002379;NT GT ./. 1 231991131 rs12123082 C G 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.8321,G/0.1679;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001012959.1/0;CC=c.1982-11138C>G;VC=Intron;Gene=DISC1/NM_001164542.1/0;CC=c.1981+36868C>G;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1634+84315C>G;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1981+36868C>G;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1981+36868C>G;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1634+84315C>G;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1981+36868C>G;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.2077+36868C>G;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1615+36868C>G;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1981+36868C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:60:31:0:0:35,25:1201,827:0.00,76.94:0.00,33.57:0.00,43.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,35.9:0,0:0,0:80,57:68,94:36,30:-,NM_018662.2(DISC1) c.1981+36868C>G:-,0.16:-,NOT_FOUND 1 232002392 rs3082 A G 53 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.6554,G/0.3446;PC=0.001;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001012959.1/0;CC=c.*68A>G;VC=3UTR;Gene=DISC1/NM_001164542.1/0;CC=c.1981+48129A>G;VC=Intron;Gene=DISC1/NM_001164546.1/0;CC=c.1635-92182A>G;VC=Intron;Gene=DISC1/NM_001164538.1/0;CC=c.1981+48129A>G;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1981+48129A>G;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.1635-92182A>G;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.1981+48129A>G;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.2077+48129A>G;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1615+48129A>G;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.1981+48129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:40:0:0:37,19:1129,600:0.00,53.48:0.00,37.10:0.00,16.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,34.1:0,0:0,0:59,54:81,93:31,33:-,NM_018662.2(DISC1) c.1981+48129A>G:-,0.35:-,0.312089 1 232002455 . G . . NT END=232094573;NT GT ./. 1 232095250 . T . . NT END=232144530;NT GT ./. 1 232138341 rs71162206 G GCA 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=2;PC=0.001;Gene=TSNAX-DISC1/NR_028393.1/0;VC=NonCoding;Gene=DISC1/NM_001164538.1/0;CC=c.2043-6146_2043-6145insCA;VC=Intron;Gene=DISC1/NM_001164541.1/0;CC=c.1982-6146_1982-6145insCA;VC=Intron;Gene=DISC1/NM_001164547.1/0;CC=c.*16-6146_*16-6145insCA;VC=Intron;Gene=DISC1/NM_001012957.1/0;CC=c.2043-6146_2043-6145insCA;VC=Intron;Gene=DISC1/NM_001164537.1/0;CC=c.2139-6146_2139-6145insCA;VC=Intron;Gene=DISC1/NM_001164540.1/0;CC=c.1677-6146_1677-6145insCA;VC=Intron;Gene=DISC1/NM_018662.2/1;CC=c.2043-6146_2043-6145insCA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,GCA:4:3:2:0:2,2:71,66:0.00,6.35:0.00,5.01:0.00,1.34:0.00,0.94:0.00,0.89:0.00,0.89:60,60:0.0,18.5:0,0:0,0:125,50:25,95:3,13:-,NM_018662.2(DISC1) c.2043-6190_2043-6189insCA:-,NOT_FOUND:-,NOT_FOUND 1 232145401 . c . . NT END=232162180;NT GT ./. 1 232162299 . A . . NT END=232172437;NT GT ./. 1 232172578 . G . . NT END=232534872;NT GT ./. 1 232447951 rs35287263 C CCACACACACACA 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7526,CCA/0.2474,CCACACA/.,CCACACACACACACA/.;NP=164;NP=5;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CCACACACACACA:3:2:3:0:1,2:34,96:0.00,6.45:0.00,1.44:0.00,5.01:0.00,0.94:0.00,0.79:0.00,0.94:60,60:0.0,17.5:0,1:0,0:63,77:31,74:0,4:-,chr1 g.232447951_232447952insCACACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 232494726 rs71573177 GCACA G 8 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GCACA/0.4469,G/0.5531;DB;DBA=NA;PAF=GCACA/0.4469,G/0.5531;NP=33;PC=0.050;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:GCACA,G:6:6:0:4:3,3:99,116:0.00,8.09:0.00,5.75:0.00,2.34:0.00,0.69:0.00,0.95:0.00,0.89:60,60:12.3,38.7:0,1:0,0:98,58:41,86:16,12:-,chr1 g.232494727_232494730delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 232534957 rs12043251 T C 378 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.5984,C/0.4016;PC=0.002;Gene=SIPA1L2/NM_020808.3/1;CC=c.5085A>G;ProtCh=p.R1695=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:100:62:0:0:100:3304:377.96:152.19:225.77:1.00:1.00:1.00:60:49.8:0:0:92:52:30:NM_020808.3(SIPA1L2) c.5085A>G (p.(=)),NM_020808.3(SIPA1L2) c.5085A>G (p.(=)):0.42,0.42:0.253229,0.253229 1 232535020 . C . . NT END=232538137;NT GT ./. 1 232535030 rs629939 C T 252 nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.002396,A/.,T/0.9976;NP=3461;Gene=SIPA1L2/NM_020808.3/1;CC=c.5023-11G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:21:0:0:70:2184:251.71:49.13:202.58:1.00:1.00:1.00:60:60.2:0:0:96:48:29:NM_020808.3(SIPA1L2) c.5023-11G>A,NM_020808.3(SIPA1L2) c.5023-11G>A:1,1:0.995661,0.995661 1 232535137 rs540804135 A AG 13 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;Gene=SIPA1L2/NM_020808.3/1;CC=c.5023-119dupC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,AG:18:2:5:0:13,5:417,150:0.00,12.77:0.00,-0.21:0.00,12.98:0.00,0.87:0.00,0.57:0.00,0.99:60,60:33.1,32.8:0,0:0,0:138,65:13,85:8,6:-,NM_020808.3(SIPA1L2) c.5023-119_5023-118insC:-,NOT_FOUND:-,NOT_FOUND 1 232538220 . C . . NT END=232539193;NT GT ./. 1 232539318 . C . . NT END=232539870;NT GT ./. 1 232539412 rs2275304 T C 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.8638,C/0.1362;Gene=SIPA1L2/NM_020808.3/1;CC=c.4817-95A>G;VC=Intron;DM=SIPA1L2/SPAR_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:4:0:0:16,29:518,873:46.73,0.00:-0.48,0.00:47.20,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:42.5,5.2:0,0:0,0:119,109:31,42:13,16:NM_020808.3(SIPA1L2) c.4817-95A>G,-:0.16,-:NOT_FOUND,- 1 232539811 rs2275306 T A 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.864,A/0.136;Gene=SIPA1L2/NM_020808.3/1;CC=c.4816+60A>T;VC=Intron;DM=SIPA1L2/SPAR_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:46:42:0:0:23,23:768,722:73.93,0.00:53.44,0.00:20.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,13.5:0,0:0,0:31,33:120,116:15,21:NM_020808.3(SIPA1L2) c.4816+60A>T,-:0.16,-:0.042488,- 1 232539925 . C . . NT END=232551239;NT GT ./. 1 232551372 . C . . NT END=232561334;NT GT ./. 1 232551416 rs12569188 G A 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.6849,A/0.3151,C/.;Gene=SIPA1L2/NM_020808.3/1;CC=c.4631-45C>T;VC=Intron;DM=SIPA1L2/SPAR_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:40:0:0:31,39:1056,1242:99.51,0.00:37.53,0.00:61.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,2.0:0,0:0,0:85,84:62,63:26,26:NM_020808.3(SIPA1L2) c.4631-45C>T,-:0.34,-:0.315917,- 1 232561555 . C . . NT END=232564156;NT GT ./. 1 232564096 rs548204385 CT C 13 rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CT/0.4998,C/0.5002;DB;DBA=NA;PAF=CT/0.4998,C/0.5002;NP=2;PC=0.017;Gene=SIPA1L2/NM_020808.3/1;CC=c.4410+60delA;VC=Intron;DM=SIPA1L2/SPAR_C;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:CT,I,C:23:20:2:5:16,2,5:518,64,154:0.00,4.60,12.77:0.00,4.70,6.40:0.00,-0.10,6.37:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.79:60,60,60:37.6,52.5,10.4:0,0,0:0,0,0:77,45,49:52,77,102:53,18,16:-,NM_020808.3(SIPA1L2) c.4410+60delA:-,NOT_FOUND:-,NOT_FOUND 1 232564311 . C . . NT END=232567992;NT GT ./. 1 232568218 . C . . NT END=232574853;NT GT ./. 1 232568293 rs1547741 A G 113 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.02216,G/0.9778;Gene=SIPA1L2/NM_020808.3/1;CC=c.4032-76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A,G:33:6:0:0:2,31:22,1011:0.00,112.75:0.00,13.46:0.00,99.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.5,46.6:0,0:0,0:18,94:132,55:13,34:NM_020808.3(SIPA1L2) c.4032-76T>C,NM_020808.3(SIPA1L2) c.4032-76T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 232574635 . G GA 7 rn VT=INS;SST=Single;DP=15;Gene=SIPA1L2/NM_020808.3/1;CC=c.4031+218dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:G,T,GA,D:15:15:3:2:9,1,3,2:276,12,90,51:0.00,0.32,7.46,3.75:0.00,0.32,7.46,3.75:0.00,0.00,0.00,0.00:0.00,0.00,0.55,0.00:0.00,0.00,0.55,0.00:0.00,0.00,0.00,0.00:60,60,60,60:8.6,24.0,10.3,90.0:0,0,0,0:0,0,0,0:35,145,39,26:116,5,112,120:23,0,6,8:-,NM_020808.3(SIPA1L2) c.4031+218_4031+219insT:-,NOT_FOUND:-,NOT_FOUND 1 232575243 . C . . NT END=232577036;NT GT ./. 1 232577141 . C . . NT END=232577513;NT GT ./. 1 232577281 rs573140 T G 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7987,G/0.2013;Gene=SIPA1L2/NM_020808.3/1;CC=c.3539-141A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:17:7:0:0:8,9:256,300:24.31,0.00:5.62,0.00:18.69,0.00:0.99,0.00:0.98,0.00:1.00,0.00:60,60:35.0,11.2:0,0:0,0:102,113:49,38:35,13:NM_020808.3(SIPA1L2) c.3539-141A>C,-:0.21,-:NOT_FOUND,- 1 232577615 . C . . NT END=232579347;NT GT ./. 1 232579432 . C . . NT END=232581274;NT GT ./. 1 232581533 . C . . NT END=232596632;NT GT ./. 1 232596728 rs74807360 G A 202 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.9726,A/0.02736;PC=0.997;Gene=SIPA1L2/NM_020808.3/1;CC=c.3000C>T;ProtCh=p.A1000=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:149:103:0:0:67,1,81:2142,6,2577:201.78,-0.22,0.00:106.22,-0.12,0.00:95.56,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.2,161.0,9.2:0,0,0:0,0,0:63,31,86:75,108,64:34,0,30:NM_020808.3(SIPA1L2) c.3000C>T (p.(=)),-:0.04,-:0.05113,- 1 232596908 . C . . NT END=232597938;NT GT ./. 1 232598164 . A . . NT END=232600585;NT GT ./. 1 232601163 . C . . NT END=232607116;NT GT ./. 1 232607275 . C . . NT END=232615372;NT GT ./. 1 232615477 . C . . NT END=232619537;NT GT ./. 1 232619713 . C . . NT END=232626619;NT GT ./. 1 232626809 . C . . NT END=232629272;NT GT ./. 1 232629407 . C . . NT END=232649602;NT GT ./. 1 232650750 rs3795366 A G 529 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=A/0.1649,G/0.8351;Gene=SIPA1L2/NM_020808.3/1;CC=c.336T>C;ProtCh=p.S112=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:149:96:0:0:149:4579:528.64:245.86:282.79:1.00:1.00:1.00:60:39.7:0:0:83:64:30:NM_020808.3(SIPA1L2) c.336T>C (p.(=)),NM_020808.3(SIPA1L2) c.336T>C (p.(=)):0.82,0.82:0.948408,0.948408 1 232650867 rs4649383 C T 216 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.4445,T/0.5555;PC=0.983;Gene=SIPA1L2/NM_020808.3/1;CC=c.219G>A;ProtCh=p.K73=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:148:92:0:0:74,74:2528,2258:0.00,216.42:0.00,120.65:0.00,95.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,46.0:0,0:0,0:91,77:59,69:31,29:-,NM_020808.3(SIPA1L2) c.219G>A (p.(=)):-,0.58:-,0.706319 1 232651086 . G . . NT END=232940769;NT GT ./. 1 232941153 rs12409898 C T 933 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=258;DB;DBA=NA;PAF=C/0.4726,T/0.5274;Gene=MAP10/NM_019090.2/1;CC=c.384C>T;ProtCh=p.F128=;VC=Silent;DM=MAP10/DUF4497 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:258:157:0:0:1,257:9,8110:0.03,932.79:0.03,436.09:0.00,496.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:138.0,41.1:0,0:0,0:136,79:15,71:0,38:NM_019090.2(KIAA1383) c.384C>T (p.(=)),NM_019090.2(KIAA1383) c.384C>T (p.(=)):0.55,0.55:0.531032,0.531032 1 232943914 . A . . NT END=233086456;NT GT ./. 1 233006035 . GGTGTGTGT G 10 idl,nt VT=DEL;SST=Single;DP=7;NP=3;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:GGTGTGTGT,G:5:5:0:5:2,3:72,163:0.00,9.74:0.00,4.77:0.00,4.97:0.00,0.69:0.00,0.93:0.00,0.93:60,60:5.5,6.7:0,2:0,0:111,75:39,74:5,17:-,chr1 g.233006036_233006043delGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 233086491 . G . . NT END=233091302;NT GT ./. 1 233091276 . CT C 29 idl,rn VT=DEL;SST=Single;DP=67;PC=0.002;Gene=NTPCR/NM_032324.1/1;CC=c.35-8delT;VC=Intron;DM=NTPCR/NTPase_1;DM=NTPCR/NTPase_1;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:55:57:6:22:39,5,11:1260,193,711:0.00,11.35,29.19:0.00,8.24,17.27:0.00,3.11,11.91:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:45.2,36.4,57.5:0,1,11:0,0,0:73,51,25:73,94,101:36,30,16:-,NM_032324.1(NTPCR) c.35-26delT:-,NOT_FOUND:-,NOT_FOUND 1 233091466 . G . . NT END=233092092;NT GT ./. 1 233092190 . G . . NT END=233105654;NT GT ./. 1 233105865 . G . . NT END=233113908;NT GT ./. 1 233113978 . A . . NT END=233120049;NT GT ./. 1 233120224 . C . . NT END=233121837;NT GT ./. 1 233122287 . C . . NT END=233133996;NT GT ./. 1 233134185 . C . . NT END=233134850;NT GT ./. 1 233135126 . C . . NT END=233136050;NT GT ./. 1 233135198 rs61543110 CT C 14 idl,rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=4;PC=0.008;Gene=PCNXL2/NM_014801.3/1;CC=c.5329-74delA;VC=Intron;DM=PCNXL2/Pecanex_C;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:CT,T,I,C:48:14:7:11:36,2,4,6:1063,43,224,348:0.00,2.05,8.67,14.48:0.00,-0.14,1.08,0.96:0.00,2.19,7.59,13.52:0.00,0.00,0.00,0.83:0.00,0.00,0.00,0.71:0.00,0.00,0.00,0.98:60,60,60,60:10.0,74.5,30.5,10.2:0,0,3,5:0,0,0,0:120,124,54,67:19,26,97,74:18,3,9,23:-,NM_014801.3(PCNXL2) c.5329-74delA:-,NOT_FOUND:-,NOT_FOUND 1 233136282 . C . . NT END=233137282;NT GT ./. 1 233137225 rs4027365 CATAA C 45 rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=CATAA/0.06789,C/0.9321;DB;DBA=NA;PAF=CATAA/0.06789,C/0.9321;NP=86;PC=0.962;Gene=PCNXL2/NM_014801.3/1;CC=c.5097+54_5097+57delTTAT;VC=Intron;DM=PCNXL2/Pecanex_C;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CATAA,C:33:31:0:16:18,15:570,503:0.00,44.98:0.00,35.77:0.00,9.21:0.00,1.00:0.00,1.00:0.00,0.99:60,60:16.7,5.7:0,1:0,0:48,37:102,109:36,8:-,NM_014801.3(PCNXL2) c.5097+54_5097+57delTTAT:-,NOT_FOUND:-,NOT_FOUND 1 233137428 . C . . NT END=233150410;NT GT ./. 1 233150524 . C . . NT END=233152526;NT GT ./. 1 233152901 . C . . NT END=233154509;NT GT ./. 1 233154959 . T . . NT END=233160891;NT GT ./. 1 233154981 rs4649424 C T 258 nt VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.2394,T/0.7606;Gene=PCNXL2/NM_014801.3/1;CC=c.4606-2081G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:30:0:0:70:2246:257.79:74.00:183.79:1.00:1.00:1.00:60:42.3:0:0:81:60:23:NM_014801.3(PCNXL2) c.4606-2081G>A,NM_014801.3(PCNXL2) c.4606-2081G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 233161146 . C . . NT END=233167522;NT GT ./. 1 233167531 rs56699256 CT C 85 idl,rn VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=CT/0.7518,C/0.2482;NP=21;PC=0.003;Gene=PCNXL2/NM_014801.3/1;CC=c.4352-6387delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,I,C:71:60:1:35:1,40,1,29:8,1301,31,1082:-0.15,0.00,1.47,85.47:-0.15,0.00,-0.15,52.40:-0.00,0.00,1.62,33.07:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:80.0,22.8,0.0,32.4:0,0,0,5:0,0,0,0:89,76,83,55:57,68,68,94:0,41,0,27:-,NM_014801.3(PCNXL2) c.4352-6387delA:-,NOT_FOUND:-,NOT_FOUND 1 233167798 . G . . NT END=233168722;NT GT ./. 1 233168954 . C . . NT END=233183082;NT GT ./. 1 233183196 . A . . NT END=233190013;NT GT ./. 1 233190230 . C . . NT END=233192977;NT GT ./. 1 233193037 . C . . NT END=233193563;NT GT ./. 1 233193599 rs386369980 C CA 95 idl,rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.3518,CA/0.6482,CAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3518,CA/0.6482;DB;DBA=NA;PAF=C/0.3518,CA/0.6482;NP=425;PC=0.002;Gene=PCNXL2/NM_014801.3/1;CC=c.4077-564_4077-563insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:43:38:31:3:2,9,29,3:62,302,960,95:4.27,0.00,94.95,7.14:1.88,0.00,70.34,5.08:2.39,0.00,24.61,2.06:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:100.0,15.3,11.7,21.7:1,0,2,0:0,0,0,0:44,138,75,54:106,12,68,97:44,7,32,5:-,NM_014801.3(PCNXL2) c.4077-564_4077-563insT:-,NOT_FOUND:-,NOT_FOUND 1 233193818 . C . . NT END=233222685;NT GT ./. 1 233217740 . TTG T 13 sb,rn VT=DEL;SST=Single;DP=7;NP=81;PC=0.001;Gene=PCNXL2/NM_014801.3/1;CC=c.4076+8065_4076+8066delCA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:TTG,T:7:7:0:4:3,4:93,129:0.00,12.73:0.00,11.47:0.00,1.27:0.00,0.90:0.00,0.90:0.00,0.97:60,60:9.7,11.2:0,0:0,0:103,44:46,105:41,21:-,NM_014801.3(PCNXL2) c.4076+8065_4076+8066delCA:-,NOT_FOUND:-,NOT_FOUND 1 233222823 rs10752798 C A 225 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.4427,A/0.5573,T/.;Gene=PCNXL2/NM_014801.3/1;CC=c.4076+2984G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:A:58:41:0:0:58:1969:224.56:122.42:102.13:1.00:1.00:1.00:60:38.9:0:0:57:93:24:NM_014801.3(PCNXL2) c.4076+2984G>T,NM_014801.3(PCNXL2) c.4076+2984G>T:0.56,0.56:NOT_FOUND,NOT_FOUND 1 233222902 . A . . NT END=233225649;NT GT ./. 1 233225709 . A . . NT END=233225806;NT GT ./. 1 233225943 . A . . NT END=233231500;NT GT ./. 1 233231616 . G . . NT END=233248596;NT GT ./. 1 233248719 . A . . NT END=233270758;NT GT ./. 1 233270943 . G . . NT END=233275459;NT GT ./. 1 233275608 . G . . NT END=233296028;NT GT ./. 1 233295992 rs561944611 CT C 16 idl,rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=108;Gene=PCNXL2/NM_014801.3/1;CC=c.3517+36delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:CT,I,C:23:22:1:8:16,1,6:487,23,253:0.00,1.11,16.04:0.00,-0.20,16.58:0.00,1.31,-0.53:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.85:60,60,60:23.1,67.0,41.7:0,0,2:0,0,0:29,62,31:121,88,118:17,0,16:-,NM_014801.3(PCNXL2) c.3517+36delA:-,NOT_FOUND:-,0.193783 1 233296186 . T . . NT END=233297016;NT GT ./. 1 233296399 rs35864442 A AG 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3181,AG/0.6819;NP=261;Gene=PCNXL2/NM_014801.3/1;CC=c.3367-221_3367-220insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AG:5:0:3:0:2,3:68,98:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,0.0:0,0:0,0:33,122:117,29:18,0:-,NM_014801.3(PCNXL2) c.3367-221_3367-220insC:-,0.68:-,NOT_FOUND 1 233296891 rs2296515 T C 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4347,C/0.5653;Gene=PCNXL2/NM_014801.3/1;CC=c.3366+126A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:C,T:12:12:0:0:6,6:155,192:14.71,0.00:14.71,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:58.2,8.8:0,0:0,0:44,26:106,124:22,11:NM_014801.3(PCNXL2) c.3366+126A>G,-:0.55,-:NOT_FOUND,- 1 233296908 rs2296516 T G 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4355,G/0.5645;Gene=PCNXL2/NM_014801.3/1;CC=c.3366+109A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:G,T:11:11:0:0:6,5:173,142:16.87,0.00:16.87,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:58.2,10.6:0,0:0,0:61,41:89,110:22,5:NM_014801.3(PCNXL2) c.3366+109A>C,-:0.55,-:NOT_FOUND,- 1 233297116 . A . . NT END=233303430;NT GT ./. 1 233303609 . C . . NT END=233308131;NT GT ./. 1 233308274 . a . . NT END=233313547;NT GT ./. 1 233313651 . G . . NT END=233314811;NT GT ./. 1 233314928 . A . . NT END=233334684;NT GT ./. 1 233334783 . C . . NT END=233335899;NT GT ./. 1 233336017 . A . . NT END=233344263;NT GT ./. 1 233344442 . A . . NT END=233346219;NT GT ./. 1 233346317 . g . . NT END=233347483;NT GT ./. 1 233347594 . T . . NT END=233353644;NT GT ./. 1 233353684 . C . . NT END=233353776;NT GT ./. 1 233353937 . A . . NT END=233362971;NT GT ./. 1 233363124 . G . . NT END=233367356;NT GT ./. 1 233367449 . G . . NT END=233368571;NT GT ./. 1 233368289 rs701173 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2959,G/0.7041;Gene=PCNXL2/NM_014801.3/1;CC=c.2358+4302T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:6:6:0:0:3,3:101,104:0.00,10.03:0.00,10.03:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:22.0,40.7:0,0:0,0:55,27:96,124:11,0:-,NM_014801.3(PCNXL2) c.2358+4302T>C:-,0.72:-,NOT_FOUND 1 233368683 . c . . NT END=233372590;NT GT ./. 1 233372733 . A . . NT END=233376935;NT GT ./. 1 233376832 rs10752751 C T 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.3235,T/0.6765;Gene=PCNXL2/NM_014801.3/1;CC=c.2223-4106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:22:0:0:9,14:277,450:0.00,45.02:0.00,41.35:0.00,3.66:0.00,1.00:0.00,1.00:0.00,0.74:60,60:37.9,36.1:0,0:0,0:40,29:111,121:29,27:-,NM_014801.3(PCNXL2) c.2223-4106G>A:-,0.69:-,NOT_FOUND 1 233377108 . A . . NT END=233386316;NT GT ./. 1 233386350 . A . . NT END=233386448;NT GT ./. 1 233386603 . A . . NT END=233388099;NT GT ./. 1 233388252 . A . . NT END=233388386;NT GT ./. 1 233388541 . A . . NT END=233393773;NT GT ./. 1 233395097 . T . . NT END=233395643;NT GT ./. 1 233395214 rs2139998 T A 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.5323,A/0.4677;PC=0.105;Gene=PCNXL2/NM_014801.3/1;CC=c.518-124A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:44:10:0:0:24,20:769,594:75.23,0.00:7.51,0.00:67.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,13.1:0,0:0,0:98,104:52,46:32,31:NM_014801.3(PCNXL2) c.518-124A>T,-:0.52,-:NOT_FOUND,- 1 233395658 . a . . NT END=233397030;NT GT ./. 1 233397074 . A . . NT END=233397790;NT GT ./. 1 233397918 . C . . NT END=233398703;NT GT ./. 1 233398916 . A . . NT END=233420771;NT GT ./. 1 233420796 . T . . NT END=233426445;NT GT ./. 1 233426862 . g . . NT END=233427398;NT GT ./. 1 233427354 rs377162515 C CA 14 idl,rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.006;Gene=PCNXL2/NM_014801.3/1;CC=c.153+3717_153+3718insT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,C,CA,D:20:26:7:8:1,11,5,3:34,326,230,260:2.27,0.00,14.05,7.81:-0.18,0.00,14.05,7.81:2.45,0.00,0.00,0.00:0.00,0.00,0.82,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.46,0.00:60,60,60,60:67.0,40.7,7.6,39.3:1,0,2,5:0,0,0,0:31,36,35,50:120,114,113,96:0,34,6,39:-,NM_014801.3(PCNXL2) c.153+3717_153+3718insT:-,NOT_FOUND:-,NOT_FOUND 1 233427763 . A . . NT END=233429702;NT GT ./. 1 233427948 . CT C 8 rn VT=DEL;SST=Single;DP=9;Gene=PCNXL2/NM_014801.3/1;CC=c.153+3123delA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:CT,C:9:2:0:3:6,3:168,93:0.00,8.25:0.00,1.21:0.00,7.04:0.00,0.64:0.00,0.63:0.00,0.64:60,60:21.0,23.7:0,0:0,0:137,71:13,64:10,1:-,NM_014801.3(PCNXL2) c.153+3123delA:-,NOT_FOUND:-,NOT_FOUND 1 233429621 rs1294323 C T 64 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6981,T/0.3019;Gene=PCNXL2/NM_014801.3/1;CC=c.153+1451G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:18:0:0:19:547:63.64:59.76:3.88:1.00:1.00:1.00:60:61.6:0:0:46:103:34:NM_014801.3(PCNXL2) c.153+1451G>A,NM_014801.3(PCNXL2) c.153+1451G>A:0.3,0.3:NOT_FOUND,NOT_FOUND 1 233429664 rs6692689 C A 94 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5675,A/0.4325;Gene=PCNXL2/NM_014801.3/1;CC=c.153+1408G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:21:0:0:27:811:93.89:70.61:23.28:1.00:1.00:1.00:60:51.0:0:0:54:95:31:NM_014801.3(PCNXL2) c.153+1408G>T,NM_014801.3(PCNXL2) c.153+1408G>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 233429740 . c . . NT END=233431071;NT GT ./. 1 233429825 rs6667845 G A 120 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.5749,A/0.4251;PC=0.217;Gene=PCNXL2/NM_014801.3/1;CC=c.153+1247C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:14:0:0:33:1039:119.61:37.50:82.12:1.00:1.00:1.00:60:42.2:0:0:101:49:21:NM_014801.3(PCNXL2) c.153+1247C>T,NM_014801.3(PCNXL2) c.153+1247C>T:0.43,0.43:NOT_FOUND,NOT_FOUND 1 233431225 . G . . NT END=233463774;NT GT ./. 1 233431241 rs10442595 G A 193 nt VT=SNV;PN=G;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.9299,A/0.07009;Gene=PCNXL2/NM_014801.3/1;CC=c.-17C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:137:75:0:0:63,74:2036,2272:192.57,0.00:65.39,0.00:127.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,9.7:0,0:0,0:77,91:62,57:35,32:NM_014801.3(PCNXL2) c.-17C>T,-:0.07,-:0.091478,- 1 233464580 . G . . NT END=233482187;NT GT ./. 1 233482369 . G . . NT END=233489552;NT GT ./. 1 233489308 rs6424180 A T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4896,T/0.5104;Gene=KIAA1804/NM_032435.2/1;CC=c.987-245A>T;VC=Intron;DM=KIAA1804/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,T:10:10:0:0:2,8:64,241:0.00,25.74:0.00,25.74:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:56.0,36.8:0,0:0,0:14,39:136,111:9,34:-,NM_032435.2(KIAA1804) c.987-245A>T:-,0.5:-,NOT_FOUND 1 233489499 rs7539016 A G 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.4896,G/0.5104;Gene=KIAA1804/NM_032435.2/1;CC=c.987-54A>G;VC=Intron;DM=KIAA1804/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:56:0:0:45,18:1460,522:0.00,44.41:0.00,33.73:0.00,10.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,58.2:0,0:0,0:33,49:118,101:23,38:-,NM_032435.2(KIAA1804) c.987-54A>G:-,0.5:-,NOT_FOUND 1 233489529 rs7549137 G A 77 nt VT=SNV;PN=A;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.4896,A/0.5104;Gene=KIAA1804/NM_032435.2/1;CC=c.987-24G>A;VC=Intron;DM=KIAA1804/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:70:0:0:28,56:864,1894:76.53,0.00:45.00,0.00:31.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.9,6.6:0,0:0,0:31,50:112,98:18,26:NM_032435.2(KIAA1804) c.987-24G>A,-:0.5,-:0.419499,- 1 233489702 . G . . NT END=233490581;NT GT ./. 1 233489707 rs7551511 G T 87 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.4896,T/0.5104;PC=0.001;Gene=KIAA1804/NM_032435.2/1;CC=c.1135+6G>T;VC=Intron;DM=KIAA1804/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:78:36:0:6:1,47,30:22,1513,953:0.59,0.00,87.26:-0.07,0.00,37.02:0.66,0.00,50.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:172.0,6.4,41.9:0,1,0:0,0,0:87,81,100:63,63,49:0,27,23:-,NM_032435.2(KIAA1804) c.1135+6G>T:-,0.5:-,0.418576 1 233490408 rs2049183 T A 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4896,A/0.5104;Gene=KIAA1804/NM_032435.2/1;CC=c.1136-174T>A;VC=Intron;DM=KIAA1804/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:A,T:12:12:0:0:7,5:238,177:23.60,0.00:23.60,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:39.7,17.2:0,0:0,0:51,60:100,91:43,38:NM_032435.2(KIAA1804) c.1136-174T>A,-:0.5,-:NOT_FOUND,- 1 233490536 rs137943316 A AATGTCTTGGGGATAATCTG 23 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5599,AATGTCTTGGGGATAATATG/.,AATGTCTTGGGGATAATCTG/0.4401;NP=437;Gene=KIAA1804/NM_032435.2/1;CC=c.1136-45_1136-44insTGTCTTGGGGATAATCTGA;VC=Intron;DM=KIAA1804/Pkinase_Tyr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AATGTCTTGGGGATAATCTG:28:26:8:0:20,8:585,262:0.00,22.77:0.00,21.71:0.00,1.06:0.00,0.98:0.00,1.00:0.00,0.85:60,60:22.9,33.6:0,0:0,0:67,50:81,100:36,21:-,NM_032435.2(KIAA1804) c.1136-46_1136-45insATGTCTTGGGGATAATCTG:-,0.49:-,0.376679 1 233490543 rs2049182 G A 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.489,A/0.511,C/.,T/.;Gene=KIAA1804/NM_032435.2/1;CC=c.1136-39G>A;VC=Intron;DM=KIAA1804/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:26:0:0:18,15:605,417:59.25,0.00:37.45,0.00:21.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,24.2:0,0:0,0:45,44:84,95:23,21:NM_032435.2(KIAA1804) c.1136-39G>A,-:0.5,-:0.410489,- 1 233490758 . G . . NT END=233497798;NT GT ./. 1 233498040 . G . . NT END=233507783;NT GT ./. 1 233507907 . G . . NT END=233511661;NT GT ./. 1 233511813 . G . . NT END=233512175;NT GT ./. 1 233512274 . G . . NT END=233514676;NT GT ./. 1 233515457 . G . . NT END=233518050;NT GT ./. 1 233518458 . A . . NT END=233749917;NT GT ./. 1 233599643 rs374800273 T TAC 17 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=154;NP=3;PC=0.005;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:T,TAC:7:5:5:0:2,5:27,163:0.00,16.91:0.00,7.06:0.00,9.85:0.00,0.98:0.00,1.00:0.00,0.98:60,70:48.5,0.0:0,0:0,0:107,75:44,57:7,4:-,chr1 g.233599643_233599644insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 233749855 rs2795294 A G 120 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.3245,G/0.6755;Gene=KCNK1/NM_002245.3/1;CC=c.-63A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:53:0:0:22,36:629,1191:0.00,119.59:0.00,93.01:0.00,26.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,44.6:0,0:0,0:36,39:114,107:31,31:-,NM_002245.3(KCNK1) c.-63A>G:-,0.69:-,NOT_FOUND 1 233749896 rs3831930 C CTTGGCTTTGGCT 69 nt VT=INS;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.3458,CTTGGCCTTGGCT/.,CTTGGCT/.,CTTGGCTTTGGCT/0.2873,CTTGGCTTTGGCTTTGGCT/.,CTTGTCTTTGGCT/.;DB;DBA=NA;PAF=C/0.3458,T/0.3668;NP=60;PC=0.464;Gene=KCNK1/NM_002245.3/1;CC=c.-17_-16insTTTGGCTTTGGC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTTGGCTTTGGCT:90:76:24:0:51,15,24:1557,440,777:0.00,35.51,68.53:0.00,30.57,49.41:0.00,4.94,19.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:30.6,35.7,4.5:0,0,0:0,0,0:53,18,37:94,120,114:30,6,12:-,NM_002245.3(KCNK1) c.-17_-16insTTTGGCTTTGGC:-,NOT_FOUND:-,0.521594 1 233750273 . G . . NT END=233802340;NT GT ./. 1 233802737 . G . . NT END=233807016;NT GT ./. 1 233802779 rs148162946 T TTTTA 15 rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.9483,TTTTA/0.05172,TTTTATTTA/.,TTTTC/.;NP=6;PC=0.011;Gene=KCNK1/NM_002245.3/1;CC=c.751+70_751+71insATTT;VC=Intron;DM=KCNK1/Ion_trans_2;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:T,TTTTA:42:9:7:0:35,7:1122,196:0.00,14.73:0.00,0.81:0.00,13.92:0.00,0.94:0.00,0.75:0.00,1.00:60,60:17.1,14.9:0,0:0,0:114,102:28,48:28,10:-,NM_002245.3(KCNK1) c.751+43_751+44insTTTA:-,NOT_FOUND:-,NOT_FOUND 1 233802885 rs12742872 G A 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8502,A/0.1498;PC=0.001;Gene=KCNK1/NM_002245.3/1;CC=c.751+149G>A;VC=Intron;DM=KCNK1/Ion_trans_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:A,G:16:0:0:0:13,3:361,95:38.86,0.00:0.00,0.00:38.86,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.3,0.0:0,0:0,0:95,146:46,4:21,4:NM_002245.3(KCNK1) c.751+149G>A,-:0.17,-:NOT_FOUND,- 1 233807277 . G . . NT END=234040823;NT GT ./. 1 233991523 rs72068501 ATGTG A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ATGTG/0.6931,A/0.3069;DB;DBA=NA;PAF=ATGTG/0.6931,A/0.3069;NP=50;PC=0.010;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:ATGTG,A:3:3:0:3:1,2:35,73:0.00,6.45:0.00,1.59:0.00,4.86:0.00,0.94:0.00,0.89:0.00,0.89:60,60:0.0,10.0:0,1:0,0:123,81:28,70:0,22:-,chr1 g.233991524_233991527delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 234040742 rs12136133 A C 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.5505,C/0.4495;Gene=SLC35F3/NM_173508.3/1;CC=c.-82A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:40:0:0:24,18:740,531:0.00,49.22:0.00,42.10:0.00,7.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,42.0:0,0:0,0:32,63:115,87:22,26:-,NM_173508.2(SLC35F3) c.-82A>C:-,0.42:-,NOT_FOUND 1 234040877 . G . . NT END=234041274;NT GT ./. 1 234041129 rs9435566 G C 110 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=107;Gene=SLC35F3/NM_173508.3/1;CC=c.54-146G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:22:0:0:28:967:110.05:85.89:24.16:1.00:1.00:1.00:60:41.5:0:0:65:85:36:NM_173508.2(SLC35F3) c.54-146G>C,NM_173508.2(SLC35F3) c.54-146G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 234041422 rs57010808 G C 174 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=G/0.5493,C/0.4507;PC=0.002;Gene=SLC35F3/NM_173508.3/1;CC=c.201G>C;ProtCh=p.P67=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:145:86:0:0:63,82:1872,2620:174.02,0.00:62.40,0.00:111.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,3.9:0,0:0,0:87,57:56,87:31,34:NM_173508.2(SLC35F3) c.201G>C (p.(=)),-:0.41,-:0.496309,- 1 234041505 . G . . NT END=234349956;NT GT ./. 1 234350321 . G . . NT END=234367162;NT GT ./. 1 234367488 . G . . NT END=234444846;NT GT ./. 1 234367549 rs2236220 T C 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.6082,C/0.3918;Gene=SLC35F3/NM_173508.3/1;CC=c.608+62T>C;VC=Intron;Gene=SLC35F3/NM_001300845.1/0;CC=c.401+62T>C;VC=Intron;DM=SLC35F3/EamA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:7:0:0:20,22:567,674:53.55,0.00:5.42,0.00:48.13,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:33.5,9.7:0,0:0,0:90,73:61,77:31,38:NM_173508.2(SLC35F3) c.608+62T>C,-:0.41,-:NOT_FOUND,- 1 234444761 rs559871316 TA T 92 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=628;Gene=SLC35F3/NM_173508.3/1;CC=c.609-73delA;VC=Intron;Gene=SLC35F3/NM_001300845.1/0;CC=c.402-73delA;VC=Intron;DM=SLC35F3/EamA;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:37:40:1:31:8,1,28:264,30,962:0.00,1.79,91.72:0.00,1.79,90.06:0.00,0.00,1.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.80:60,60,60:10.6,38.0,21.5:0,0,3:0,0,0:66,27,35:84,124,116:30,0,22:-,NM_173508.2(SLC35F3) c.609-85delA:-,NOT_FOUND:-,NOT_FOUND 1 234445067 . G . . NT END=234452347;NT GT ./. 1 234452474 . G . . NT END=234454496;NT GT ./. 1 234452542 rs41314292 G A 91 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.8712,A/0.1288;Gene=SLC35F3/NM_173508.3/1;CC=c.954+69G>A;VC=Intron;Gene=SLC35F3/NM_001300845.1/0;CC=c.747+69G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:16:0:0:31,28:935,926:90.52,0.00:15.72,0.00:74.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,7.8:0,0:0,0:114,110:37,41:21,28:NM_173508.2(SLC35F3) c.954+69G>A,-:0.11,-:NOT_FOUND,- 1 234454405 rs657010 A C 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.00599,C/0.994;NP=3475;Gene=SLC35F3/NM_173508.3/1;CC=c.955-92A>C;VC=Intron;Gene=SLC35F3/NM_001300845.1/0;CC=c.748-92A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:31:0:0:16,15:491,511:0.00,48.95:0.00,40.38:0.00,8.57:0.00,1.00:0.00,1.00:0.00,0.99:60,60:16.3,34.7:0,0:0,0:72,45:74,106:19,32:-,NM_173508.2(SLC35F3) c.955-92A>C:-,0.99:-,NOT_FOUND 1 234454690 . G . . NT END=234455843;NT GT ./. 1 234455934 . G . . NT END=234458753;NT GT ./. 1 234458990 . C . . NT END=234509212;NT GT ./. 1 234509259 rs10910420 G C 547 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=G/0.3936,C/0.6064,T/.;Gene=LOC101927765/NR_125961.1/0;VC=NonCoding;Gene=COA6/NM_001206641.2/1;CC=c.47G>C;ProtCh=p.S16T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:145:130:0:0:144,1:4809,33:546.86,0.00:409.02,0.00:137.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,6.0:0,0:0,0:53,92:96,58:30,0:NM_001012985.2(COA6) c.-36-u170G>C,NM_001012985.2(COA6) c.-36-u170G>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 234509425 . G . . NT END=234509428;NT GT ./. 1 234509587 . G . . NT END=234509975;NT GT ./. 1 234509858 rs61077059 GT G 100 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=GT/0.3878,G/0.6122;NP=986;PC=0.032;Gene=COA6/NM_001206641.2/1;CC=c.213-101delT;VC=Intron;Gene=COA6/NM_001012985.2/0;CC=c.123-101delT;VC=Intron;Gene=COA6/NM_001301733.1/0;CC=c.-117delT;VC=5UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:GT,G:32:26:0:30:2,30:43,889:0.00,100.13:0.00,82.39:0.00,17.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,60.4:0,0:0,0:120,40:16,110:14,28:NM_001012985.2(COA6) c.123-117delT,NM_001012985.2(COA6) c.123-117delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 234509865 rs45577939 T G 104 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3878,G/0.6122;NP=2;PC=0.035;Gene=COA6/NM_001206641.2/1;CC=c.213-111T>G;VC=Intron;Gene=COA6/NM_001012985.2/0;CC=c.123-111T>G;VC=Intron;Gene=COA6/NM_001301733.1/0;CC=c.-127T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G,T:34:28:0:0:31,3:941,73:104.42,0.00:86.09,0.00:18.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.3,29.7:30,0:0,0:46,113:105,10:29,29:NM_001012985.2(COA6) c.123-111T>G,NM_001012985.2(COA6) c.123-111T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 234510136 . G . . NT END=234519468;NT GT ./. 1 234510262 rs4300255 A G 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.476,G/0.524;Gene=COA6/NM_001206641.2/1;CC=c.372+127A>G;VC=Intron;Gene=COA6/NM_001012985.2/0;CC=c.282+127A>G;VC=Intron;Gene=COA6/NM_001301733.1/0;CC=c.144+127A>G;VC=Intron;DM=COA6/COX6B;DM=COA6/COX6B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G,T:23:1:0:0:22,1:689,11:78.90,0.39:2.03,0.00:76.87,0.39:1.00,0.00:0.97,0.00:1.00,0.00:60,60:41.9,25.0:0,0:0,0:69,123:77,28:29,0:NM_001012985.2(COA6) c.282+127A>G,NM_001012985.2(COA6) c.282+127A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 234519319 rs60042887 G GACAC 17 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8746,GACAC/.,GACACAC/0.1254,GACACACACAC/.,GACACACACACAC/.;DB;DBA=NA;PAF=G/0.6873,GACAC/0.3127;NP=32;NP=6;PC=0.002;Gene=COA6/NM_001206641.2/1;CC=c.373-125_373-124insCACA;VC=Intron;Gene=COA6/NM_001012985.2/0;CC=c.283-125_283-124insCACA;VC=Intron;Gene=COA6/NM_001301733.1/0;CC=c.145-125_145-124insCACA;VC=Intron;DM=COA6/COX6B;DM=COA6/COX6B;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,GACAC:6:8:7:0:1,5:36,228:0.00,17.34:0.00,15.91:0.00,1.42:0.00,0.97:0.00,0.97:0.00,0.88:60,60:0.0,65.8:0,2:0,0:61,27:26,124:0,12:-,NM_001012985.2(COA6) c.283-150_283-149insACAC:-,NOT_FOUND:-,NOT_FOUND 1 234519385 rs10797539 T C 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.5166,C/0.4834;PC=0.003;Gene=COA6/NM_001206641.2/1;CC=c.373-84T>C;VC=Intron;Gene=COA6/NM_001012985.2/0;CC=c.283-84T>C;VC=Intron;Gene=COA6/NM_001301733.1/0;CC=c.145-84T>C;VC=Intron;DM=COA6/COX6B;DM=COA6/COX6B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:16:0:0:17:535:61.60:53.44:8.15:1.00:1.00:1.00:70:43.2:0:0:64:78:33:NM_001012985.2(COA6) c.283-84T>C,NM_001012985.2(COA6) c.283-84T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 1 234519452 rs58896934 C CT 69 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4046,CT/0.5913,CTT/0.004193,CTTT/.;NP=1871;Gene=COA6/NM_001206641.2/1;CC=c.373-8dupT;VC=Intron;Gene=COA6/NM_001012985.2/0;CC=c.283-8dupT;VC=Intron;Gene=COA6/NM_001301733.1/0;CC=c.145-8dupT;VC=Intron;DM=COA6/COX6B;DM=COA6/COX6B;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CT:24:20:22:0:4,20:108,706:0.00,68.85:0.00,43.28:0.00,25.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.5,12.4:0,2:0,0:75,43:75,100:27,25:-,NM_001012985.2(COA6) c.283-17_283-16insT:-,0.58:-,NOT_FOUND 1 234519565 . G . . NT END=234527322;NT GT ./. 1 234527492 . C . . NT END=234528161;NT GT ./. 1 234527575 rs3862040 C T 186 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.492,T/0.508;Gene=TARBP1/NM_005646.3/1;CC=c.4698-84G>A;VC=Intron;DM=TARBP1/SpoU_methylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:5:0:0:52:1608:185.56:11.53:174.03:1.00:1.00:1.00:60:41.1:0:0:104:46:26:NM_005646.3(TARBP1) c.4698-84G>A,NM_005646.3(TARBP1) c.4698-84G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 234527992 rs3754318 A G 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4087,G/0.5913;Gene=TARBP1/NM_005646.3/1;CC=c.4697+170T>C;VC=Intron;DM=TARBP1/SpoU_methylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:22:0:0:22:682:78.62:78.62:0.00:1.00:1.00:0.00:60:70.2:0:0:47:103:24:NM_005646.3(TARBP1) c.4697+170T>C,NM_005646.3(TARBP1) c.4697+170T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 234528006 rs3754317 A G 67 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4075,G/0.5925;Gene=TARBP1/NM_005646.3/1;CC=c.4697+156T>C;VC=Intron;DM=TARBP1/SpoU_methylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:G:21:21:0:0:21:571:66.79:66.79:0.00:1.00:1.00:0.00:60:72.4:0:0:60:90:23:NM_005646.3(TARBP1) c.4697+156T>C,NM_005646.3(TARBP1) c.4697+156T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 1 234528299 . C . . NT END=234529107;NT GT ./. 1 234528373 rs7523423 C T 140 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.492,T/0.508;Gene=TARBP1/NM_005646.3/1;CC=c.4561-75G>A;VC=Intron;DM=TARBP1/SpoU_methylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:T:39:19:0:0:39:1210:139.51:58.10:81.40:1.00:1.00:1.00:60:39.1:0:0:108:42:22:NM_005646.3(TARBP1) c.4561-75G>A,NM_005646.3(TARBP1) c.4561-75G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 234528459 . CTT C 8 rn VT=DEL;SST=Single;DP=16;PC=0.074;Gene=TARBP1/NM_005646.3/1;CC=c.4561-163_4561-162delAA;VC=Intron;DM=TARBP1/SpoU_methylase;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:CTT,T,I,C:16:1:1:3:11,1,1,3:344,12,33,100:0.00,0.26,2.26,8.26:0.00,-0.03,-0.03,-0.09:0.00,0.29,2.29,8.35:0.00,0.00,0.00,0.54:0.00,0.00,0.00,0.46:0.00,0.00,0.00,0.91:60,60,60,60:27.1,103.0,22.0,0.0:0,0,0,0:0,0,0,0:126,18,125,17:24,133,25,134:20,0,0,1:-,NM_005646.3(TARBP1) c.4561-163_4561-162delAA:-,NOT_FOUND:-,NOT_FOUND 1 234529233 . C . . NT END=234529391;NT GT ./. 1 234529552 rs2175594 C T 293 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.49,T/0.51;PC=0.003;Gene=TARBP1/NM_005646.3/1;CC=c.4275G>A;ProtCh=p.A1425=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:78:40:0:0:78:2560:293.08:107.06:186.02:1.00:1.00:1.00:60:66.5:0:0:83:61:33:NM_005646.3(TARBP1) c.4275G>A (p.(=)),NM_005646.3(TARBP1) c.4275G>A (p.(=)):0.51,0.51:0.486775,0.486775 1 234529570 rs2175593 G A 230 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.496,A/0.504;Gene=TARBP1/NM_005646.3/1;CC=c.4257C>T;ProtCh=p.V1419=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:28:0:0:66:1990:230.10:74.00:156.10:1.00:1.00:1.00:60:73.8:0:0:87:62:22:NM_005646.3(TARBP1) c.4257C>T (p.(=)),NM_005646.3(TARBP1) c.4257C>T (p.(=)):0.51,0.51:0.474858,0.474858 1 234529584 . C . . NT END=234534127;NT GT ./. 1 234533907 rs539769190 C CT 18 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6146,CT/0.3854,CTT/.;DB;DBA=NA;PAF=C/0.6146,CT/0.3854;NP=119;PC=0.001;Gene=TARBP1/NM_005646.3/1;CC=c.4243+220dupA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CT:5:5:5:0:5:157:18.08:18.08:0.00:1.00:1.00:0.00:60:32.4:0:0:21:130:15:NM_005646.3(TARBP1) c.4243+220_4243+221insA,NM_005646.3(TARBP1) c.4243+220_4243+221insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 234534300 . C . . NT END=234536926;NT GT ./. 1 234537009 . C . . NT END=234541648;NT GT ./. 1 234541622 rs2271444 G T 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7688,T/0.2312;PC=0.002;Gene=TARBP1/NM_005646.3/1;CC=c.3989+27C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:59:51:0:0:32,27:1061,868:0.00,82.01:0.00,53.89:0.00,28.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,37.3:0,0:0,0:47,61:97,89:32,28:-,NM_005646.3(TARBP1) c.3989+27C>A:-,0.24:-,0.195064 1 234541846 . C . . NT END=234546190;NT GT ./. 1 234546245 rs1141264 C T 144 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.6629,T/0.3371;PC=0.037;Gene=TARBP1/NM_005646.3/1;CC=c.3738G>A;ProtCh=p.T1246=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:26:0:0:38:1262:144.29:66.11:78.18:1.00:1.00:1.00:60:36.1:0:0:67:77:30:NM_005646.3(TARBP1) c.3738G>A (p.(=)),NM_005646.3(TARBP1) c.3738G>A (p.(=)):0.36,0.36:0.336207,0.336207 1 234546278 . C . . NT END=234553829;NT GT ./. 1 234553980 . C . . NT END=234556447;NT GT ./. 1 234556362 rs61825881 T C 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9659,C/0.03415;PC=0.251;Gene=TARBP1/NM_005646.3/1;CC=c.3555+86A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:8,9:280,284:26.71,0.00:26.85,0.00:-0.14,0.00:0.99,0.00:0.99,0.00:0.65,0.00:60,60:35.0,2.3:0,0:0,0:45,78:104,73:21,26:NM_005646.3(TARBP1) c.3555+86A>G,-:0.06,-:NOT_FOUND,- 1 234556559 . C . . NT END=234561418;NT GT ./. 1 234556630 rs6661926 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7276,T/0.2724;Gene=TARBP1/NM_005646.3/1;CC=c.3445-72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:5:0:0:16,13:534,362:0.00,33.63:0.00,3.04:0.00,30.59:0.00,1.00:0.00,0.94:0.00,1.00:60,60:7.6,68.6:0,0:0,0:83,114:67,37:29,33:-,NM_005646.3(TARBP1) c.3445-72G>A:-,0.31:-,NOT_FOUND 1 234556646 rs6669819 T A 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.7278,A/0.2722;Gene=TARBP1/NM_005646.3/1;CC=c.3445-88A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:1:0:0:11,15:317,477:29.23,0.00:-0.12,0.00:29.35,0.00:1.00,0.00:0.62,0.00:1.00,0.00:60,60:72.2,7.3:0,0:0,0:95,88:56,62:36,24:NM_005646.3(TARBP1) c.3445-88A>T,-:0.31,-:NOT_FOUND,- 1 234556774 rs6666922 A T 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7278,T/0.2722;Gene=TARBP1/NM_005646.3/1;CC=c.3445-216T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T:4:0:0:0:2,2:66,67:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.94:0.00,0.00:0.00,0.94:60,60:15.5,33.5:0,0:0,0:129,91:21,60:9,23:-,NM_005646.3(TARBP1) c.3445-216T>A:-,0.31:-,NOT_FOUND 1 234561540 . C . . NT END=234563062;NT GT ./. 1 234563060 rs443685 T C 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.5849,C/0.4151;PC=1.000;Gene=TARBP1/NM_005646.3/1;CC=c.3323+3A>G;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:34:0:0:25,16:796,521:79.59,0.00:56.28,0.00:23.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,11.6:0,0:0,0:59,50:78,86:40,28:NM_005646.3(TARBP1) c.3323+3A>G,-:0.37,-:0.388,- 1 234563135 . C . . NT END=234563321;NT GT ./. 1 234563513 . C . . NT END=234564881;NT GT ./. 1 234565071 . C . . NT END=234565161;NT GT ./. 1 234565078 . GA G 28 idl,rn VT=DEL;SST=Single;DP=85;NP=40;Gene=TARBP1/NM_005646.3/1;CC=c.2872-9delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GA,I,G:84:55:6:13:1,65,6,12:13,2019,194,394:-0.12,0.00,13.30,27.84:-0.19,0.00,5.52,12.17:0.07,0.00,7.78,15.66:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:23.0,6.7,7.7,12.8:0,0,0,1:0,0,0,0:8,85,69,86:143,63,70,59:0,31,25,34:-,NM_005646.3(TARBP1) c.2872-9delT:-,NOT_FOUND:-,NOT_FOUND 1 234565424 . C . . NT END=234565832;NT GT ./. 1 234565510 rs35706427 TGGG T 24 idl,nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=TGGG/0.003794,T/0.9962;DB;DBA=NA;PAF=TGGG/0.003794,T/0.9962;NP=212;Gene=TARBP1/NM_005646.3/1;CC=c.2610-90_2610-88delCCC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TGGG,T:26:15:0:14:2,14,10:22,348,342:0.61,0.00,24.39:-0.28,0.00,6.80:0.89,0.00,17.58:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:147.0,14.6,34.2:0,0,4:0,0,0:96,139,95:44,9,55:5,7,21:-,NM_005646.3(TARBP1) c.2610-90_2610-88delCCC:-,NOT_FOUND:-,NOT_FOUND 1 234566048 . C . . NT END=234569155;NT GT ./. 1 234569318 . C . . NT END=234573020;NT GT ./. 1 234573119 . C . . NT END=234582548;NT GT ./. 1 234582722 . C . . NT END=234584225;NT GT ./. 1 234584326 . C . . NT END=234586173;NT GT ./. 1 234586313 . C . . NT END=234593412;NT GT ./. 1 234593503 . C . . NT END=234594975;NT GT ./. 1 234595073 . C . . NT END=234596006;NT GT ./. 1 234596143 . C . . NT END=234599582;NT GT ./. 1 234599681 . C . . NT END=234601401;NT GT ./. 1 234601455 . c . . NT END=234603247;NT GT ./. 1 234601456 rs531256921 T TA 19 idl,rn VT=INS;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=5;PC=1.000;Gene=TARBP1/NM_005646.3/1;CC=c.1249-3_1249-2insT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,T,TA,D:63:49:10:13:4,43,8,8:53,1214,296,347:1.66,0.00,19.16,16.77:-0.69,0.00,13.00,9.85:2.35,0.00,6.17,6.92:0.00,0.00,0.94,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.97,0.00:60,60,60,70:118.2,21.0,52.4,46.2:0,0,2,4:0,0,0,0:87,103,78,87:62,36,57,57:14,31,27,25:-,NM_005646.3(TARBP1) c.1249-3_1249-2insT:-,NOT_FOUND:-,NOT_FOUND 1 234603397 . C . . NT END=234606933;NT GT ./. 1 234607004 . C . . NT END=234608459;NT GT ./. 1 234608558 . C . . NT END=234613918;NT GT ./. 1 234614864 . C . . NT END=234742882;NT GT ./. 1 234743237 rs7543281 G A 198 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.9147,A/0.08526;PC=0.998;Gene=IRF2BP2/NM_001077397.1/0;CC=c.1362C>T;ProtCh=p.G454=;VC=Silent;Gene=IRF2BP2/NM_182972.2/1;CC=c.1410C>T;ProtCh=p.G470=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:141:89:0:0:66,75:2084,2414:197.55,0.00:104.93,0.00:92.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,9.1:0,0:0,0:79,92:67,58:41,32:NM_182972.2(IRF2BP2) c.1410C>T (p.(=)),-:0.1,-:0.124173,- 1 234743599 . C . . NT END=234744192;NT GT ./. 1 234745009 rs7545855 A G 344 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=220;DB;DBA=NA;PAF=A/0.3962,G/0.6038;PC=0.056;Gene=IRF2BP2/NM_001077397.1/0;CC=c.232T>C;ProtCh=p.S78P;VC=Missense;Gene=IRF2BP2/NM_182972.2/1;CC=c.232T>C;ProtCh=p.S78P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:220:142:0:0:106,1,112,1:3430,9,3562,14:0.00,-0.19,344.06,-0.10:0.00,-0.11,158.75,-0.11:0.00,-0.08,185.31,0.01:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:9.5,172.0,42.6,51.0:0,0,0,0:0,0,0,0:64,119,81,101:79,32,65,50:31,0,33,0:-,NM_182972.2(IRF2BP2) c.232T>C (p.Ser78Pro):-,0.62:-,NOT_FOUND 1 234745241 . G . . NT END=235275378;NT GT ./. 1 234840427 rs397983285 A AGT 14 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=155;NP=3;PC=0.001;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,AGT:6:5:4:0:2,4:49,134:0.00,13.66:0.00,6.73:0.00,6.93:0.00,0.93:0.00,0.99:0.00,0.99:60,60:28.0,3.0:0,0:0,0:104,55:46,81:15,18:-,chr1 g.234840427_234840428insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 234946750 rs368876021 G GGT 9 sb,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3592,GGT/0.6408,GGTGT/.;NP=255;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:G,GGT:7:5:3:0:4,3:135,95:0.00,8.85:0.00,1.12:0.00,7.74:0.00,0.69:0.00,0.93:0.00,0.69:56,54:15.2,3.3:0,0:0,0:121,105:29,46:14,8:-,chr1 g.234946750_234946751insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 234946766 rs367677288 TGTGTGC T 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=4;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:TGTGTGC,T:7:4:0:3:4,3:139,94:0.00,8.75:0.00,4.74:0.00,4.01:0.00,0.69:0.00,0.89:0.00,0.69:54,56:5.8,12.0:1,0:0,0:90,96:61,55:16,10:-,chr1 g.234946767_234946772delGTGTGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 234953834 rs200007946 A C 119 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=62 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:33:13:0:0:33:1033:119.01:33.66:85.35:1.00:1.00:1.00:40:45.8:0:0:119:29:16:chr1 g.234953833A>C (intergenic),chr1 g.234953833A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 234953851 rs368518411 C T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.997,T/0.002995;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:27:8:0:0:1,17,9:10,553,284:0.01,0.00,25.41:-0.03,0.00,10.85:0.05,0.00,14.56:0.00,0.00,0.99:0.00,0.00,0.94:0.00,0.00,0.99:27,40,40:38.0,38.9,61.8:0,0,0:0,0,0:44,121,138:107,26,12:0,11,6:-,chr1 g.234953850C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 234953875 rs138215498 C CA 34 sb,nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.252,CA/0.748;NP=96;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,CA:16:1:14:0:2,14:49,306:0.00,33.87:0.00,0.95:0.00,32.92:0.00,1.00:0.00,0.92:0.00,1.00:40,42:32.0,32.6:0,0:0,0:146,88:2,61:1,54:-,chr1 g.234953875_234953876insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 234954004 . C T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:12:0:0:0:3,9:95,295:0.00,30.86:0.00,0.00:0.00,30.86:0.00,1.00:0.00,0.00:0.00,1.00:42,49:17.3,41.0:0,0:0,0:150,119:1,32:0,16:-,chr1 g.234954003C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 235171201 . AACACAC A 13 rn VT=DEL;SST=Single;DP=8;NP=11;PC=0.100;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:AACACAC,A:7:7:0:5:3,4:102,152:0.00,12.70:0.00,6.20:0.00,6.50:0.00,0.87:0.00,0.99:0.00,0.94:60,60:0.0,64.0:0,1:0,0:108,31:38,101:11,8:-,chr1 g.235171202_235171207delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 235275424 . C . . NT END=235277082;NT GT ./. 1 235275430 . G GA 7 rn VT=INS;SST=Single;DP=39;NP=2;PC=0.369;Gene=TOMM20/NM_014765.2/1;CC=c.394-8_394-7insT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:G,GA,D:39:22:3:2:34,3,2:1144,99,61:0.00,6.81,3.70:0.00,3.58,1.02:0.00,3.23,2.68:0.00,0.38,0.00:0.00,0.70,0.00:0.00,0.82,0.00:60,60,60:7.4,0.0,15.5:0,0,0:0,0,0:98,60,53:50,45,97:32,13,7:-,NM_014765.2(TOMM20) c.394-8_394-7insT:-,NOT_FOUND:-,NOT_FOUND 1 235277226 . C . . NT END=235283132;NT GT ./. 1 235283215 . C . . NT END=235285640;NT GT ./. 1 235285688 . C . . NT END=235291909;NT GT ./. 1 235292031 . C . . NT END=235295027;NT GT ./. 1 235295313 . C . . NT END=235298966;NT GT ./. 1 235299086 . C . . NT END=235299348;NT GT ./. 1 235299389 . C . . NT END=235301191;NT GT ./. 1 235301256 . C . . NT END=235301405;NT GT ./. 1 235301490 . C . . NT END=235311718;NT GT ./. 1 235301496 rs367780945 CA C 8 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=119;Gene=RBM34/NM_015014.2/1;CC=c.702-8delT;VC=Intron;Gene=RBM34/NR_027762.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:CA,I,C:21:11:2:6:15,2,4:411,61,160:0.00,4.35,7.94:0.00,1.14,4.07:0.00,3.21,3.87:0.00,0.00,0.69:0.00,0.00,0.82:0.00,0.00,0.92:60,60,60:25.7,5.0,22.2:0,0,2:0,0,0:103,113,83:45,31,68:21,0,38:-,NM_015014.2(RBM34) c.702-8delT:-,NOT_FOUND:-,NOT_FOUND 1 235311763 . C . . NT END=235315802;NT GT ./. 1 235311772 . G GA 6 rn VT=INS;SST=Single;DP=37;NP=1;PC=0.001;Gene=RBM34/NM_015014.2/1;CC=c.658-11dupT;VC=Intron;Gene=RBM34/NR_027762.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:G,GA,D:36:23:3:2:32,3,1:1008,95,61:0.00,6.49,1.53:0.00,0.52,-0.20:0.00,5.97,1.74:0.00,0.38,0.00:0.00,0.74,0.00:0.00,0.76,0.00:60,60,60:13.3,0.0,11.0:0,0,1:0,0,0:82,63,83:57,87,67:26,40,50:-,NM_015014.2(RBM34) c.658-11_658-10insT:-,NOT_FOUND:-,NOT_FOUND 1 235316081 . C . . NT END=235318195;NT GT ./. 1 235316088 . TA T 12 rn VT=DEL;SST=Single;DP=41;NP=16;Gene=RBM34/NM_015014.2/1;CC=c.598-9delT;VC=Intron;Gene=RBM34/NR_027762.1/0;VC=NonCoding;Gene=RBM34/NM_001161533.1/0;CC=c.598-9delT;VC=Intron;DM=RBM34/RRM_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,TA,I,T:41:25:3:5:1,32,3,5:9,1029,99,164:-0.17,0.00,6.87,12.41:-0.17,0.00,2.10,7.66:0.01,0.00,4.77,4.75:0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.90:60,60,60,60:132.0,15.8,3.3,7.4:0,0,0,0:0,0,0,0:27,96,86,52:123,54,64,70:0,27,4,25:-,NM_015014.2(RBM34) c.598-9delT:-,NOT_FOUND:-,NOT_FOUND 1 235316185 rs11351017 CT C 18 idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=CT/0.5355,C/0.4645;NP=34;PC=0.076;Gene=RBM34/NM_015014.2/1;CC=c.598-106delA;VC=Intron;Gene=RBM34/NR_027762.1/0;VC=NonCoding;Gene=RBM34/NM_001161533.1/0;CC=c.598-106delA;VC=Intron;DM=RBM34/RRM_1;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:CT,I,C:21:6:5:8:10,5,6:329,145,198:0.00,12.59,17.94:0.00,0.86,-0.51:0.00,11.73,18.45:0.00,0.00,0.93:0.00,0.00,0.85:0.00,0.00,0.99:60,60,60:2.3,39.0,0.0:0,0,0:0,0,0:127,124,84:18,26,66:15,5,9:-,NM_015014.2(RBM34) c.598-106delA:-,NOT_FOUND:-,NOT_FOUND 1 235318428 . C . . NT END=235323825;NT GT ./. 1 235323963 . C . . NT END=235324207;NT GT ./. 1 235324383 . C . . NT END=235324488;NT GT ./. 1 235324542 . T . . NT END=235331839;NT GT ./. 1 235331968 . C . . NT END=235335932;NT GT ./. 1 235336080 . C . . NT END=235338498;NT GT ./. 1 235338715 . C . . NT END=235341114;NT GT ./. 1 235341229 . C . . NT END=235344385;NT GT ./. 1 235344500 . C . . NT END=235344899;NT GT ./. 1 235346109 . C . . NT END=235357327;NT GT ./. 1 235357527 . C . . NT END=235359345;NT GT ./. 1 235359431 . C . . NT END=235377083;NT GT ./. 1 235377342 . C . . NT END=235383107;NT GT ./. 1 235383284 . C . . NT END=235383616;NT GT ./. 1 235383861 . C . . NT END=235384879;NT GT ./. 1 235384978 . C . . NT END=235386480;NT GT ./. 1 235386576 . C . . NT END=235388017;NT GT ./. 1 235388091 . C . . NT END=235392545;NT GT ./. 1 235392701 . C . . NT END=235394427;NT GT ./. 1 235394505 . C . . NT END=235397727;NT GT ./. 1 235397808 . C . . NT END=235403627;NT GT ./. 1 235403767 . C . . NT END=235409734;NT GT ./. 1 235409827 . C . . NT END=235416044;NT GT ./. 1 235416125 . C . . NT END=235418974;NT GT ./. 1 235419066 . C . . NT END=235420474;NT GT ./. 1 235420541 . C . . NT END=235423956;NT GT ./. 1 235424068 . C . . NT END=235490228;NT GT ./. 1 235440909 . TTGTG T 15 rn VT=DEL;SST=Single;DP=7;NP=8;PC=0.003;Gene=ARID4B/NM_001206794.1/0;CC=c.7-16846_7-16843delCACA;VC=Intron;Gene=ARID4B/NM_016374.5/1;CC=c.7-16846_7-16843delCACA;VC=Intron;Gene=ARID4B/NM_031371.3/0;CC=c.7-16846_7-16843delCACA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:TTGTG,T:7:6:0:5:2,5:60,140:0.00,14.52:0.00,8.21:0.00,6.31:0.00,0.98:0.00,1.00:0.00,1.00:60,60:25.5,20.8:0,0:0,0:96,45:38,83:5,5:-,NM_016374.5(ARID4B) c.7-16846_7-16843delCACA:-,NOT_FOUND:-,NOT_FOUND 1 235490235 . G . . NT END=235498579;NT GT ./. 1 235498650 . G . . NT END=235505022;NT GT ./. 1 235504807 rs2789368 C T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=595;PC=0.002;Gene=GGPS1/NM_001037277.1/1;CC=c.71-216C>T;VC=Intron;Gene=GGPS1/NR_036605.1/0;VC=NonCoding;DM=GGPS1/polyprenyl_synt;DM=GGPS1/polyprenyl_synt;DM=GGPS1/polyprenyl_synt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:42.4:0:0:36:113:22:NM_001037277.1(GGPS1) c.71-216C>T,NM_001037277.1(GGPS1) c.71-216C>T:1,1:NOT_FOUND,NOT_FOUND 1 235505094 . G . . NT END=235505325;NT GT ./. 1 235506088 . T . . NT END=235543364;NT GT ./. 1 235543262 rs36068852 C CA 30 idl,rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5102,CA/0.4898,CAA/.;NP=28;PC=0.036;Gene=TBCE/NM_001079515.2/1;CC=c.-31-55_-31-54insA;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.-31-55_-31-54insA;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.-341-55_-341-54insA;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.-31-55_-31-54insA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,CA,D:14:17:12:1:4,9,1:140,391,34:0.00,29.80,2.54:0.00,28.00,2.54:0.00,1.80,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.69,0.00:60,60,60:0.0,22.6,0.0:0,3,0:0,0,0:127,22,82:23,128,69:6,14,0:-,NM_001079515.1(TBCE) c.-31-72_-31-71insA:-,NOT_FOUND:-,NOT_FOUND 1 235543466 . T . . NT END=235564817;NT GT ./. 1 235543476 . TTGTGTGTGTGTGTG T 29 idl,nt VT=DEL;SST=Single;DP=49;NP=15;Gene=TBCE/NM_001079515.2/1;CC=c.100+52_100+65delGTGTGTGTGTGTGT;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.100+52_100+65delGTGTGTGTGTGTGT;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.-211+52_-211+65delGTGTGTGTGTGTGT;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.100+52_100+65delGTGTGTGTGTGTGT;VC=Intron;DM=TBCE/CAP_GLY;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTGTGTGTGTGTGTG,T:43:29:0:17:32,11:1008,474:0.00,28.68:0.00,16.53:0.00,12.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.2,18.5:0,7:0,0:107,74:36,77:10,18:-,NM_001079515.1(TBCE) c.100+13_100+26delTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 235564904 . T . . NT END=235577747;NT GT ./. 1 235564924 rs17543709 G T 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.9583,T/0.04173;Gene=TBCE/NM_001079515.2/1;CC=c.185+22G>T;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.185+22G>T;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.-210-12824G>T;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.185+22G>T;VC=Intron;DM=TBCE/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:44:17:0:0:21,23:722,684:0.00,66.09:0.00,19.55:0.00,46.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,41.9:0,0:0,0:102,88:47,63:29,31:-,NM_001079515.1(TBCE) c.185+22G>T:-,0.06:-,0.098877 1 235577935 . T . . NT END=235582731;NT GT ./. 1 235582460 rs4659860 T C 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2646,C/0.7354;Gene=TBCE/NM_001079515.2/1;CC=c.372-328T>C;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.372-328T>C;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.-24-272T>C;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.372-328T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:177:20.55:20.55:0.00:1.00:1.00:0.00:60:53.7:0:0:59:91:29:NM_001079515.1(TBCE) c.372-328T>C,NM_001079515.1(TBCE) c.372-328T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 235582878 . T . . NT END=235590454;NT GT ./. 1 235590556 . T . . NT END=235594019;NT GT ./. 1 235594121 . T . . NT END=235596260;NT GT ./. 1 235594182 rs2291687 A G 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.2662,G/0.7338;Gene=TBCE/NM_001079515.2/1;CC=c.660+63A>G;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.660+63A>G;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.321+63A>G;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.660+63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:6:0:0:19:597:68.76:16.30:52.46:1.00:1.00:1.00:60:37.2:0:0:126:22:13:NM_001079515.1(TBCE) c.660+63A>G,NM_001079515.1(TBCE) c.660+63A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 1 235594250 rs2291688 A G 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4954,G/0.5046;Gene=TBCE/NM_001079515.2/1;CC=c.660+131A>G;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.660+131A>G;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.321+131A>G;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.660+131A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:179:20.72:0.00:20.72:1.00:0.00:1.00:60:50.5:0:0:45:105:24:NM_001079515.1(TBCE) c.660+131A>G,NM_001079515.1(TBCE) c.660+131A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 1 235596231 . A AT 12 rn VT=INS;SST=Single;DP=51;PC=0.067;Gene=TBCE/NM_001079515.2/1;CC=c.661-1277_661-1276insT;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.661-19_661-18insT;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.322-1277_322-1276insT;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.661-1277_661-1276insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,AT,D:51:46:5:2:44,5,2:1377,163,65:0.00,11.68,3.88:0.00,7.74,4.00:0.00,3.94,-0.12:0.00,0.72,0.00:0.00,0.96,0.00:0.00,0.63,0.00:60,60,60:35.7,33.8,0.0:0,0,0:0,0,0:21,22,40:127,128,111:15,3,25:-,NM_001079515.1(TBCE) c.661-1288_661-1287insT:-,NOT_FOUND:-,NOT_FOUND 1 235596488 . T . . NT END=235597518;NT GT ./. 1 235596681 rs10802710 G A 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4936,A/0.5064;Gene=TBCE/NM_001079515.2/1;CC=c.661-838G>A;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.813+268G>A;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.322-838G>A;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.661-838G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:0:0:0:18:540:62.48:0.00:62.48:1.00:0.00:1.00:60:46.9:0:0:104:46:17:NM_001079515.1(TBCE) c.661-838G>A,NM_001079515.1(TBCE) c.661-838G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 1 235597252 rs12405889 T G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4796,G/0.5204;Gene=TBCE/NM_001079515.2/1;CC=c.661-267T>G;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.814-267T>G;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.322-267T>G;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.661-267T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:G:7:7:0:0:7:161:19.19:19.19:0.00:1.00:1.00:0.00:60:40.7:0:0:44:107:6:NM_001079515.1(TBCE) c.661-267T>G,NM_001079515.1(TBCE) c.661-267T>G:0.52,0.52:NOT_FOUND,NOT_FOUND 1 235597597 . T . . NT END=235599059;NT GT ./. 1 235598973 rs2055127 C T 52 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4938,T/0.5062;Gene=TBCE/NM_001079515.2/1;CC=c.738-87C>T;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.891-87C>T;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.399-87C>T;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.738-87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:14:0:0:15:450:52.11:48.58:3.53:1.00:1.00:1.00:60:42.7:0:0:74:77:50:NM_001079515.1(TBCE) c.738-87C>T,NM_001079515.1(TBCE) c.738-87C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 235599157 . T . . NT END=235599700;NT GT ./. 1 235599767 . T . . NT END=235599858;NT GT ./. 1 235599924 . G . . NT END=235600636;NT GT ./. 1 235600129 rs6429082 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4483,C/0.5517;Gene=TBCE/NM_001079515.2/1;CC=c.963+206T>C;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.1116+206T>C;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.624+206T>C;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.963+206T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:157:18.08:0.00:18.08:1.00:0.00:1.00:60:52.8:0:0:76:75:41:NM_001079515.1(TBCE) c.963+206T>C,NM_001079515.1(TBCE) c.963+206T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 1 235600790 . G . . NT END=235602083;NT GT ./. 1 235601867 rs59598449 T TAAA 19 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2598,TAAA/0.7402;DB;DBA=NA;PAF=T/0.2598,TAAA/0.7402,TAAAA/.;DB;DBA=NA;PAF=T/0.2598,TAAA/0.7402,TAAAA/.;NP=10;PC=0.008;Gene=TBCE/NM_001079515.2/1;CC=c.1117-206_1117-205insAAA;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.1270-206_1270-205insAAA;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.778-206_778-205insAAA;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.1117-206_1117-205insAAA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TAAA:5:5:5:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:48.2:0:0:34:117:21:NM_001079515.1(TBCE) c.1117-217_1117-216insAAA,NM_001079515.1(TBCE) c.1117-217_1117-216insAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 235601958 rs3819974 G T 145 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.2766,T/0.7234;Gene=TBCE/NM_001079515.2/1;CC=c.1117-126G>T;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.1270-126G>T;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.778-126G>T;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.1117-126G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:40:0:0:40:1265:145.49:141.72:3.78:1.00:1.00:1.00:70:39.9:0:0:54:95:24:NM_001079515.1(TBCE) c.1117-126G>T,NM_001079515.1(TBCE) c.1117-126G>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 235602238 . G . . NT END=235605128;NT GT ./. 1 235602404 rs2270538 G A 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3217,A/0.6783;Gene=TBCE/NM_001079515.2/1;CC=c.1270+167G>A;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.1423+167G>A;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.931+167G>A;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.1270+167G>A;VC=Intron;DM=TBCE/Ubiquitin_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:563:64.40:0.00:64.40:1.00:0.00:1.00:60:45.5:0:0:114:37:22:NM_001079515.1(TBCE) c.1270+167G>A,NM_001079515.1(TBCE) c.1270+167G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 1 235605198 . G . . NT END=235606166;NT GT ./. 1 235606227 . G . . NT END=235611663;NT GT ./. 1 235611535 rs538025969 CA C 18 idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CA/0.6238,C/0.3762;NP=1;PC=0.019;Gene=TBCE/NM_001079515.2/1;CC=c.1400-109delA;VC=Intron;Gene=TBCE/NM_001287801.1/0;CC=c.1553-109delA;VC=Intron;Gene=TBCE/NM_001287802.1/0;CC=c.1061-109delA;VC=Intron;Gene=TBCE/NM_003193.4/0;CC=c.1400-109delA;VC=Intron;Gene=B3GALNT2/NM_152490.4/1;CC=c.*1985delT;VC=3UTR;DM=TBCE/Ubiquitin_2;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:CA,I,C:16:20:6:7:7,3,6:218,191,232:0.00,7.67,18.45:0.00,7.67,18.45:0.00,0.00,0.00:0.00,0.00,0.94:0.00,0.00,0.94:0.00,0.00,0.00:60,60,60:7.3,20.0,25.8:0,3,1:0,0,0:20,44,77:131,105,74:15,32,20:-,NM_152490.2(B3GALNT2) c.*1966T[19]:-,NOT_FOUND:-,NOT_FOUND 1 235611756 . G . . NT END=235611984;NT GT ./. 1 235612078 . C . . NT END=235613520;NT GT ./. 1 235613656 . C . . NT END=235616401;NT GT ./. 1 235616459 . C . . NT END=235617467;NT GT ./. 1 235617628 . C . . NT END=235618870;NT GT ./. 1 235618997 . C . . NT END=235621910;NT GT ./. 1 235622095 . C . . NT END=235628821;NT GT ./. 1 235629032 . C . . NT END=235634163;NT GT ./. 1 235634275 . C . . NT END=235643369;NT GT ./. 1 235643466 . C . . NT END=235647637;NT GT ./. 1 235647832 . C . . NT END=235652472;NT GT ./. 1 235652574 . C . . NT END=235657990;NT GT ./. 1 235658139 . C . . NT END=235659614;NT GT ./. 1 235659619 . c . . NT END=235667440;NT GT ./. 1 235659621 . GA G 15 idl,rn VT=DEL;SST=Single;DP=39;NP=1;PC=0.010;Gene=B3GALNT2/NM_152490.4/1;CC=c.113-1484delT;VC=Intron;Gene=B3GALNT2/NM_001277155.2/0;CC=c.113-4delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:GA,T,I,G:39:33:5:6:27,1,5,6:822,7,165,186:0.00,-0.20,12.82,14.64:0.00,-0.22,10.41,9.49:0.00,0.02,2.41,5.15:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.90:60,60,60,60:19.0,216.0,4.4,22.0:0,0,0,0:0,0,0,0:59,91,45,59:91,60,106,91:31,0,20,23:-,NM_152490.2(B3GALNT2) c.113-1484delT:-,NOT_FOUND:-,NOT_FOUND 1 235659857 . CT C 8 rn VT=DEL;SST=Single;DP=11;NP=2;PC=0.006;Gene=B3GALNT2/NM_152490.4/1;CC=c.113-1720delA;VC=Intron;Gene=B3GALNT2/NM_001277155.2/0;CC=c.113-240delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:CT,T,I,C:11:0:2:4:5,1,2,3:144,10,57,86:0.00,0.32,4.74,7.65:0.00,0.00,0.00,0.00:0.00,0.32,4.74,7.65:0.00,0.00,0.00,0.60:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.60:60,60,60,60:20.0,108.0,0.0,15.3:0,0,0,0:0,0,0,0:130,62,68,55:20,89,82,86:14,0,54,28:-,NM_152490.2(B3GALNT2) c.113-1720delA:-,NOT_FOUND:-,NOT_FOUND 1 235667553 . T . . NT END=235715408;NT GT ./. 1 235715064 rs589175 A T 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1977,T/0.8023;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.*345T>A;VC=3UTR;Gene=GNG4/NM_001098721.1/0;CC=c.*345T>A;VC=3UTR;Gene=GNG4/NM_004485.3/0;CC=c.*345T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:101:11.93:11.93:0.00:1.00:1.00:0.00:60:89.5:0:0:54:96:27:NM_001098722.1(GNG4) c.*345T>A,NM_001098722.1(GNG4) c.*345T>A:0.78,0.78:NOT_FOUND,NOT_FOUND 1 235715523 rs14326 A G 125 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.3688,C/.,G/0.6312;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.114T>C;ProtCh=p.A38=;VC=Silent;Gene=GNG4/NM_001098721.1/0;CC=c.114T>C;ProtCh=p.A38=;VC=Silent;Gene=GNG4/NM_004485.3/0;CC=c.114T>C;ProtCh=p.A38=;VC=Silent;DM=GNG4/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:91:62:0:0:47,43,1:1622,1321,12:0.00,125.36,-0.06:0.00,62.64,0.08:0.00,62.72,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:3.8,95.9,105.0:0,0,0:0,0,0:56,59,112:86,76,38:29,32,0:-,NM_001098722.1(GNG4) c.114T>C (p.(=)):-,0.62:-,0.539136 1 235715538 . C . . NT END=235747039;NT GT ./. 1 235715556 rs423026 C G 121 nt VT=SNV;PN=A;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.3766,A/.,G/0.6234;PC=0.364;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.100-19G>C;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.100-19G>C;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.100-19G>C;VC=Intron;DM=GNG4/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:90:54:0:0:2,50,38:29,1666,1293:0.46,0.00,121.30:0.07,0.00,47.65:0.40,0.00,73.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:69.5,9.3,117.6:0,0,0:0,0,0:92,74,80:58,71,69:24,29,17:-,NM_001098722.1(GNG4) c.100-19G>C:-,0.61:-,0.531216 1 235715601 rs400948 A G 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.3762,G/0.6238;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.100-64T>C;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.100-64T>C;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.100-64T>C;VC=Intron;DM=GNG4/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:30:0:0:40,32:1309,1000:0.00,93.80:0.00,24.67:0.00,69.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,132.0:0,0:0,0:101,107:40,43:24,21:-,NM_001098722.1(GNG4) c.100-64T>C:-,0.61:-,NOT_FOUND 1 235715617 rs452950 A C 75 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.3762,C/0.6238;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.100-80T>G;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.100-80T>G;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.100-80T>G;VC=Intron;DM=GNG4/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:24:0:0:36,27:1182,810:0.00,75.16:0.00,21.39:0.00,53.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.9,136.4:0,0:0,0:109,121:37,30:26,18:-,NM_001098722.1(GNG4) c.100-80T>G:-,0.61:-,NOT_FOUND 1 235715661 rs387492 A G 115 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1931,G/0.8069;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.100-124T>C;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.100-124T>C;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.100-124T>C;VC=Intron;DM=GNG4/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A,G:32:8:0:0:1,31:8,1013:0.00,114.59:0.00,16.48:0.00,98.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,78.4:0,0:0,0:91,117:60,34:0,27:NM_001098722.1(GNG4) c.100-124T>C,NM_001098722.1(GNG4) c.100-124T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 1 235734245 rs535079462 C T,CACAT 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;DM=GNG4/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:T,CACAT:4:4:1:0:3,1:100,33:11.06,3.18:9.18,3.18:1.88,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:160.7,31.0:0,0:0,0:40,24:84,127:4,0:NM_001098722.1(GNG4) c.99+12795G>A,NM_001098722.1(GNG4) c.99+12794_99+12795insATGT:0.38,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 235734262 rs544210922 CTTT C 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTTT/0.2095,C/0.7905;NP=3;PC=0.044;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.99+12775_99+12777delAAA;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.99+12775_99+12777delAAA;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.99+12775_99+12777delAAA;VC=Intron;DM=GNG4/G-gamma;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CTTT,C:4:4:0:2:2,2:66,66:0.00,6.35:0.00,4.61:0.00,1.74:0.00,0.94:0.00,0.94:0.00,0.67:60,60:100.0,142.5:0,0:0,0:53,51:86,63:8,5:-,NM_001098722.1(GNG4) c.99+12775_99+12777delAAA:-,NOT_FOUND:-,NOT_FOUND 1 235747005 rs2774335 C T 69 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.5006,T/0.4994;PC=0.001;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.99+35G>A;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.99+35G>A;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.99+35G>A;VC=Intron;DM=GNG4/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:37:0:0:21,22:706,711:0.00,68.65:0.00,50.81:0.00,17.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,36.7:0,0:0,0:58,33:91,113:39,17:-,NM_001098722.1(GNG4) c.99+35G>A:-,0.49:-,0.370368 1 235747139 . T . . NT END=235826273;NT GT ./. 1 235747154 rs2774336 A G 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.5052,G/0.4948;PC=0.957;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.-10-6T>C;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.-10-6T>C;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.-10-6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:15:0:0:17,21:548,648:0.00,63.43:0.00,15.95:0.00,47.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,36.0:0,0:0,0:98,85:53,64:19,31:-,NM_001098722.1(GNG4) c.-10-6T>C:-,0.49:-,0.364601 1 235759484 rs3001660 A G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.246;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.-122-673T>C;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.-122-673T>C;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.-10-12336T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:0:5:170:19.38:5.92:13.47:1.00:1.00:1.00:60:78.2:0:0:23:93:12:NM_001098722.1(GNG4) c.-122-673T>C,NM_001098722.1(GNG4) c.-122-673T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 1 235759517 . C A 10 idl;mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;PC=0.040;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=GNG4/NM_001098722.1/1;CC=c.-122-706G>T;VC=Intron;Gene=GNG4/NM_001098721.1/0;CC=c.-122-706G>T;VC=Intron;Gene=GNG4/NM_004485.3/0;CC=c.-10-12369G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:A,C,T:5:3:0:1:3,1,1:99,30,19:10.27,0.00,1.58:5.33,0.00,0.00:4.93,0.00,1.58:0.78,0.00,0.00:0.94,0.00,0.00:0.78,0.00,0.00:9,60,60:68.7,83.0,42.0:3,0,1:0,0,0:43,135,32:96,16,119:5,0,0:NM_001098722.1(GNG4) c.-122-706G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 235826379 . C . . NT END=235827283;NT GT ./. 1 235826382 rs556428133 TA T 51 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=878;PC=0.009;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.11268-5delT;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.11268-5delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:45:25:2:19:25,2,18:748,65,589:0.00,4.25,51.38:0.00,1.07,14.35:0.00,3.17,37.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:9.3,4.5,15.3:0,0,1:0,0,0:98,87,101:47,64,49:37,1,23:-,NM_000081.2(LYST) c.11268-5delT:-,NOT_FOUND:-,NOT_FOUND 1 235827356 . C . . NT END=235827764;NT GT ./. 1 235827443 rs3819013 T C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7536,C/0.2464;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.11196-88A>G;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.11196-88A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:7:0:0:9,13:278,443:25.63,0.00:2.45,0.00:23.18,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:31.9,13.5:0,0:0,0:118,88:31,63:28,26:NM_000081.2(LYST) c.11196-88A>G,-:0.32,-:NOT_FOUND,- 1 235827641 rs12092604 C T 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.597,T/0.403;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.11195+124G>A;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.11195+124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:22:0:0:12,11:406,359:0.00,34.23:0.00,34.52:0.00,-0.28:0.00,1.00:0.00,1.00:0.00,0.65:60,60:1.7,36.5:0,0:0,0:51,22:98,128:18,7:-,NM_000081.2(LYST) c.11195+124G>A:-,0.44:-,NOT_FOUND 1 235827922 . C . . NT END=235840390;NT GT ./. 1 235840489 . C . . NT END=235840779;NT GT ./. 1 235840920 . C . . NT END=235850248;NT GT ./. 1 235849939 rs7545788 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5915,G/0.4085;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.10800+310T>C;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.10800+310T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:6:6:0:0:2,4:69,103:0.00,10.54:0.00,10.54:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:77.5,86.0:0,0:0,0:67,44:82,107:55,10:-,NM_000081.2(LYST) c.10800+310T>C:-,0.44:-,NOT_FOUND 1 235850348 . C . . NT END=235856649;NT GT ./. 1 235856395 rs12122253 A C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5859,C/0.4141;PC=0.001;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.10701+255T>G;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.10701+255T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:139:15.81:15.81:0.00:1.00:1.00:0.00:60:36.5:0:0:45:105:20:NM_000081.2(LYST) c.10701+255T>G,NM_000081.2(LYST) c.10701+255T>G:0.44,0.44:NOT_FOUND,NOT_FOUND 1 235856538 rs5781839 G GC 77 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.02656,GC/0.9734;DB;DBA=NA;PAF=G/0.02656,GC/0.9734;NP=1345;PC=0.033;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.10701+111_10701+112insG;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.10701+111_10701+112insG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:G,GC:23:22:22:0:1,22:13,677:0.00,76.54:0.00,73.08:0.00,3.46:0.00,1.00:0.00,1.00:0.00,0.97:60,60:12.0,4.2:1,0:0,0:139,64:12,86:0,35:NM_000081.2(LYST) c.10701+111_10701+112insG,NM_000081.2(LYST) c.10701+111_10701+112insG:0.93,0.93:NOT_FOUND,NOT_FOUND 1 235856787 . C . . NT END=235860382;NT GT ./. 1 235856901 rs3754232 G A 75 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.7524,A/0.2476;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.10565-115C>T;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.10565-115C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:12:0:0:24,16:753,503:75.10,0.00:16.78,0.00:58.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,10.9:0,0:0,0:118,90:31,60:17,14:NM_000081.2(LYST) c.10565-115C>T,-:0.32,-:NOT_FOUND,- 1 235860340 rs7541057 C T 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.6,T/0.4;Gene=MIR5096/NR_039973.1/0;VC=NonCoding;Gene=LYST/NM_000081.3/1;CC=c.10564+43G>A;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.10564+43G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:38:0:0:19,21:626,635:0.00,61.44:0.00,50.51:0.00,10.93:0.00,1.00:0.00,1.00:0.00,0.97:60,60:22.2,41.4:0,0:0,0:47,46:104,94:38,30:-,NM_000081.2(LYST) c.10564+43G>A:-,0.43:-,0.582282 1 235860573 . C . . NT END=235866046;NT GT ./. 1 235866278 . C . . NT END=235872390;NT GT ./. 1 235872609 . C . . NT END=235875356;NT GT ./. 1 235875498 . C . . NT END=235875852;NT GT ./. 1 235876477 . C . . NT END=235878500;NT GT ./. 1 235878658 . C . . NT END=235880011;NT GT ./. 1 235880079 . C . . NT END=235883960;NT GT ./. 1 235884206 . C . . NT END=235887327;NT GT ./. 1 235887481 . C . . NT END=235891375;NT GT ./. 1 235891432 . C . . NT END=235892895;NT GT ./. 1 235892958 . C . . NT END=235894146;NT GT ./. 1 235893907 . GTGTGTGTA G 14 nt VT=DEL;SST=Single;DP=8;NP=4;PC=0.975;Gene=LYST/NM_000081.3/1;CC=c.9044+232_9044+239delTACACACA;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.9044+232_9044+239delTACACACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:GTGTGTGTA,G:8:7:0:5:3,5:105,142:0.00,14.27:0.00,9.70:0.00,4.57:0.00,0.97:0.00,1.00:0.00,0.99:60,70:12.7,10.2:3,0:0,0:73,44:78,77:1,26:-,NM_000081.2(LYST) c.9044+232_9044+239delTACACACA:-,NOT_FOUND:-,NOT_FOUND 1 235894244 . C . . NT END=235894331;NT GT ./. 1 235894478 . C . . NT END=235896802;NT GT ./. 1 235896992 . C . . NT END=235897129;NT GT ./. 1 235897207 . C . . NT END=235897782;NT GT ./. 1 235897960 . C . . NT END=235901172;NT GT ./. 1 235901433 rs2145402 C A 182 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=0.949;Gene=LYST/NM_000081.3/1;CC=c.8358+3289G>T;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.8358+3289G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:131:90:0:0:61,70:1925,2412:182.22,0.00:103.03,0.00:79.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,4.7:0,0:0,0:59,62:83,81:33,32:NM_000081.2(LYST) c.8358+3289G>T,-:0.18,-:NOT_FOUND,- 1 235901895 . C . . NT END=235904721;NT GT ./. 1 235904929 . C . . NT END=235907278;NT GT ./. 1 235907458 . C . . NT END=235909635;NT GT ./. 1 235909828 . C . . NT END=235914509;NT GT ./. 1 235914663 . C . . NT END=235915304;NT GT ./. 1 235915472 . C . . NT END=235916343;NT GT ./. 1 235916575 . C . . NT END=235918777;NT GT ./. 1 235918688 rs71576487 C CAAAAG 44 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4135,CAAAAG/0.5865;NP=18;NP=466;PC=0.177;Gene=LYST/NM_000081.3/1;CC=c.7229+89_7229+90insCTTTT;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.7229+89_7229+90insCTTTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,CAAAAG:17:17:13:0:4,13:136,421:0.00,44.27:0.00,44.27:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.2,2.2:0,0:0,0:109,41:41,109:23,24:-,NM_000081.2(LYST) c.7229+89_7229+90insCTTTT:-,NOT_FOUND:-,NOT_FOUND 1 235918948 . C . . NT END=235920580;NT GT ./. 1 235920759 . C . . NT END=235922271;NT GT ./. 1 235922900 . C . . NT END=235926019;NT GT ./. 1 235926152 . C . . NT END=235929378;NT GT ./. 1 235929578 . C . . NT END=235933459;NT GT ./. 1 235929596 rs141197189 C A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.9828,A/0.01717,G/.;PC=0.021;Gene=LYST/NM_000081.3/1;CC=c.5923-19G>T;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.5923-19G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:42:17:0:0:17,25:562,827:52.00,0.00:12.36,0.00:39.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,4.9:0,0:0,0:110,87:41,45:24,39:NM_000081.2(LYST) c.5923-19G>T,-:0.02,-:0.031694,- 1 235933598 . C . . NT END=235937141;NT GT ./. 1 235937292 . C . . NT END=235938212;NT GT ./. 1 235938387 . C . . NT END=235940362;NT GT ./. 1 235938388 . TA T 15 idl,rn VT=DEL;SST=Single;DP=61;NP=65;PC=1.000;Gene=LYST/NM_000081.3/1;CC=c.5461-3delT;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.5461-3delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:TA,I,T:60:30:4:7:50,3,7:1619,117,210:0.00,4.84,15.12:0.00,0.89,5.20:0.00,3.95,9.92:0.00,0.00,0.90:0.00,0.00,0.92:0.00,0.00,0.99:60,60,60:6.8,0.0,16.9:0,1,0:0,0,0:89,43,73:53,99,77:32,19,24:-,NM_000081.2(LYST) c.5461-3delT:-,NOT_FOUND:-,NOT_FOUND 1 235940609 . C . . NT END=235944164;NT GT ./. 1 235944356 . C . . NT END=235945226;NT GT ./. 1 235945388 . C . . NT END=235950499;NT GT ./. 1 235945480 rs552690643 CT C 7 rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=CT/0.7284,C/0.2716;NP=2;Gene=LYST/NM_000081.3/1;CC=c.4863-94delA;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.4863-94delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:CT,I,C:34:14:3:3:28,3,3:890,83,94:0.00,5.46,6.55:0.00,4.87,2.44:0.00,0.59,4.11:0.00,0.00,0.40:0.00,0.00,0.63:0.00,0.00,0.83:60,60,60:28.2,33.3,51.0:0,0,0:0,0,0:112,120,87:28,31,28:25,0,24:-,NM_000081.2(LYST) c.4863-94delA:-,NOT_FOUND:-,NOT_FOUND 1 235945502 rs2011390 A G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1821,G/0.8179;PC=0.012;Gene=LYST/NM_000081.3/1;CC=c.4863-115T>C;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.4863-115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:7:0:0:14,18:446,533:0.00,52.32:0.00,3.46:0.00,48.87:0.00,1.00:0.00,0.99:0.00,1.00:60,60:30.1,39.4:0,0:0,0:106,74:37,76:37,57:-,NM_000081.2(LYST) c.4863-115T>C:-,0.81:-,NOT_FOUND 1 235950674 . C . . NT END=235952000;NT GT ./. 1 235952146 . C . . NT END=235954998;NT GT ./. 1 235955426 . C . . NT END=235956802;NT GT ./. 1 235956913 . C . . NT END=235963619;NT GT ./. 1 235963687 . C . . NT END=235964170;NT GT ./. 1 235964398 . C . . NT END=235966207;NT GT ./. 1 235966365 . C . . NT END=235967803;NT GT ./. 1 235967966 . C . . NT END=235969042;NT GT ./. 1 235970073 . C . . NT END=235971754;NT GT ./. 1 235973835 . C . . NT END=235976270;NT GT ./. 1 235976362 . C . . NT END=235990664;NT GT ./. 1 235991208 . g . . NT END=235991396;NT GT ./. 1 235991542 . a . . NT END=235991973;NT GT ./. 1 235992244 . c . . NT END=235993525;NT GT ./. 1 235993725 . C . . NT END=235996877;NT GT ./. 1 235996968 . C . . NT END=236141166;NT GT ./. 1 236021042 rs56208034 TACAC T 7 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TACAC/0.4141,T/0.5859;DB;DBA=NA;PAF=TACAC/0.4141,T/0.5859;NP=78;PC=0.001;Gene=LYST/NM_000081.3/1;CC=c.-98+9097_-98+9100delGTGT;VC=Intron;Gene=LYST/NM_001301365.1/0;CC=c.-97-24079_-97-24076delGTGT;VC=Intron;Gene=LYST/NR_102436.2/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TACAC,T:5:4:0:4:2,3:67,101:0.00,6.72:0.00,2.42:0.00,4.30:0.00,0.73:0.00,0.94:0.00,0.89:60,60:0.0,47.7:0,1:0,0:85,43:37,97:25,11:-,NM_000081.2(LYST) c.-98+9097_-98+9100delGTGT:-,NOT_FOUND:-,NOT_FOUND 1 236097629 rs56866438 TTGTGTGTGTGTGTG T 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TTGTGTGTGTGTGTG/0.04073,T/0.9593;DB;DBA=NA;PAF=TTGTGTGTGTGTGTG/0.04073,T/0.9593;NP=44;PC=0.024;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:TTGTGTGTGTGTGTG,T:5:5:0:4:2,3:68,126:0.00,9.13:0.00,3.07:0.00,6.05:0.00,0.73:0.00,0.96:0.00,0.96:60,60:0.0,36.7:0,1:0,0:114,65:28,85:12,16:-,chr1 g.236097630_236097643delTGTGTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 236141289 . C . . NT END=236142294;NT GT ./. 1 236142408 . C . . NT END=236143121;NT GT ./. 1 236142565 rs1536132 T C 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2222,C/0.7778;Gene=NID1/NM_002508.2/1;CC=c.3510-158A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,T:5:0:0:0:4,1:121,11:12.97,0.00:0.00,0.00:12.97,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:30.2,122.0:0,0:0,0:96,133:54,18:21,0:NM_002508.2(NID1) c.3510-158A>G,-:0.8,-:NOT_FOUND,- 1 236143246 . C . . NT END=236143795;NT GT ./. 1 236143954 . C . . NT END=236144910;NT GT ./. 1 236145083 . C . . NT END=236148678;NT GT ./. 1 236148806 . C . . NT END=236154185;NT GT ./. 1 236149054 rs397742898 G A 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=NID1/NM_002508.2/1;CC=c.2929-249C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:A,G:13:3:0:0:12,1:368,35:40.94,0.00:6.98,0.00:33.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,0.0:0,0:0,0:104,87:47,63:16,0:NM_002508.2(NID1) c.2929-249C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 236154012 rs1041111 C T 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.617,T/0.383;Gene=NID1/NM_002508.2/1;CC=c.2928+174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:C,T:19:19:0:0:1,18:10,566:0.00,63.68:0.00,63.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:155.0,50.0:0,0:0,0:71,36:64,115:0,26:NM_002508.2(NID1) c.2928+174G>A,NM_002508.2(NID1) c.2928+174G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 236154359 . C . . NT END=236156944;NT GT ./. 1 236157173 . C . . NT END=236175220;NT GT ./. 1 236175327 rs3738531 C A 280 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.8055,A/0.1945;PC=0.990;Gene=NID1/NM_002508.2/1;CC=c.2421G>T;ProtCh=p.Q807H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:50:0:0:78:2435:280.49:123.24:157.25:1.00:1.00:1.00:60:65.4:0:0:86:61:34:NM_002508.2(NID1) c.2421G>T (p.Gln807His),NM_002508.2(NID1) c.2421G>T (p.Gln807His):0.16,0.16:0.102337,0.102337 1 236175339 rs2031487 T C 282 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.3033,C/0.6967;PC=0.769;Gene=NID1/NM_002508.2/1;CC=c.2409A>G;ProtCh=p.V803=;VC=Silent;DM=NID1/cEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:48:0:0:74:2463:281.52:116.51:165.01:1.00:1.00:1.00:60:67.3:0:0:76:72:37:NM_002508.2(NID1) c.2409A>G (p.(=)),NM_002508.2(NID1) c.2409A>G (p.(=)):0.64,0.64:0.585115,0.585115 1 236175344 . C . . NT END=236176710;NT GT ./. 1 236175585 rs6669467 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5008,T/0.4992;Gene=NID1/NM_002508.2/1;CC=c.2405-242G>A;VC=Intron;DM=NID1/cEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:309:35.65:0.00:35.65:1.00:0.00:1.00:60:41.6:0:0:117:33:24:NM_002508.2(NID1) c.2405-242G>A,NM_002508.2(NID1) c.2405-242G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 236176861 . C . . NT END=236180447;NT GT ./. 1 236180108 rs1543561 G C 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5517,C/0.4483;Gene=NID1/NM_002508.2/1;CC=c.2254+340C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:99:11.76:11.76:0.00:1.00:1.00:0.00:60:60.5:0:0:34:116:8:NM_002508.2(NID1) c.2254+340C>G,NM_002508.2(NID1) c.2254+340C>G:0.39,0.39:NOT_FOUND,NOT_FOUND 1 236180141 rs397713931 C CT 22 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2616,CT/0.7384;DB;DBA=NA;PAF=C/0.2616,CT/0.7384;NP=106;PC=0.008;Gene=NID1/NM_002508.2/1;CC=c.2254+306dupA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:CT:7:7:7:0:7:188:22.12:22.12:0.00:1.00:1.00:0.00:60:39.3:0:0:54:96:34:NM_002508.2(NID1) c.2254+306_2254+307insA,NM_002508.2(NID1) c.2254+306_2254+307insA:0.69,0.69:NOT_FOUND,NOT_FOUND 1 236180574 . C . . NT END=236187369;NT GT ./. 1 236180580 rs3768081 C G 386 nt VT=SNV;PN=G;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.5956,G/0.4044;Gene=NID1/NM_002508.2/1;CC=c.2129-7G>C;VC=Intron;DM=NID1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:102:55:0:0:102:3378:386.36:126.49:259.87:1.00:1.00:1.00:60:38.7:0:0:71:71:29:NM_002508.2(NID1) c.2129-7G>C,NM_002508.2(NID1) c.2129-7G>C:0.36,0.36:0.188528,0.188528 1 236180689 . C CT 9 rn VT=INS;SST=Single;DP=40;PC=0.010;Gene=NID1/NM_002508.2/1;CC=c.2129-117_2129-116insA;VC=Intron;DM=NID1/EGF_CA;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,CT,D:40:6:4:2:34,4,2:1060,128,66:0.00,9.16,4.20:0.00,-0.14,1.17:0.00,9.30,3.03:0.00,0.59,0.00:0.00,0.45,0.00:0.00,0.94,0.00:60,60,60:25.8,18.8,34.5:0,0,0:0,0,0:112,99,127:35,51,24:31,16,4:-,NM_002508.2(NID1) c.2129-117_2129-116insA:-,NOT_FOUND:-,NOT_FOUND 1 236187365 rs3738533 T C 353 nt VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.7652,C/0.2348;Gene=NID1/NM_002508.2/1;CC=c.2128+5A>G;VC=Intron;DM=NID1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:97:81:0:0:97:3068:353.00:224.76:128.24:1.00:1.00:1.00:60:37.0:0:0:66:76:32:NM_002508.2(NID1) c.2128+5A>G,NM_002508.2(NID1) c.2128+5A>G:0.2,0.2:0.151238,0.151238 1 236187514 . C . . NT END=236189195;NT GT ./. 1 236189442 . C . . NT END=236192849;NT GT ./. 1 236193051 . C . . NT END=236195700;NT GT ./. 1 236195953 . C . . NT END=236201403;NT GT ./. 1 236201554 . C . . NT END=236205209;NT GT ./. 1 236205061 rs4584382 C T 48 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4439,T/0.5561;Gene=NID1/NM_002508.2/1;CC=c.1135+149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:27:27:0:0:10,1,16:319,12,480:0.00,0.25,48.07:0.00,0.25,48.07:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:8.3,148.0,63.8:0,0,0:0,0,0:61,97,37:89,54,112:31,0,18:-,NM_002508.2(NID1) c.1135+149G>A:-,0.53:-,NOT_FOUND 1 236205121 rs4297282 T C 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.4151,C/0.5849;Gene=NID1/NM_002508.2/1;CC=c.1135+89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:47:46:0:0:1,23,23:19,702,695:0.56,67.28,0.00:0.58,58.42,0.00:-0.02,8.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:56.0,53.5,8.9:0,0,0:0,0,0:37,71,42:114,79,109:0,32,20:NM_002508.2(NID1) c.1135+89A>G,-:0.56,-:NOT_FOUND,- 1 236205593 . C . . NT END=236208756;NT GT ./. 1 236208688 rs10733131 A G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.4143,G/0.5857;PC=0.001;Gene=NID1/NM_002508.2/1;CC=c.752+69T>C;VC=Intron;DM=NID1/NIDO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:22:0:0:9,14:287,428:0.00,42.74:0.00,43.14:0.00,-0.41:0.00,1.00:0.00,1.00:0.00,0.74:60,60:3.3,88.9:0,0:0,0:37,71:113,80:27,41:-,NM_002508.2(NID1) c.752+69T>C:-,0.48:-,NOT_FOUND 1 236208689 rs10733132 T A 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=NID1/NM_002508.2/1;CC=c.752+68A>T;VC=Intron;DM=NID1/NIDO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:23:0:0:15,9:460,293:46.23,0.00:46.65,0.00:-0.43,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:87.3,3.3:0,0:0,0:64,38:87,112:42,27:NM_002508.2(NID1) c.752+68A>T,-:0.48,-:NOT_FOUND,- 1 236208773 rs10733133 C T 53 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.4127,T/0.5873;Gene=NID1/NM_002508.2/1;CC=c.736G>A;ProtCh=p.V246I;VC=Missense;DM=NID1/NIDO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:44:0:0:29,20:994,581:0.00,53.15:0.00,32.91:0.00,20.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,62.0:0,0:0,0:36,49:114,97:19,32:-,NM_002508.2(NID1) c.736G>A (p.Val246Ile):-,0.56:-,0.493311 1 236208984 . C . . NT END=236211989;NT GT ./. 1 236209024 rs3768088 C G 44 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.4127,G/0.5873,T/.;Gene=NID1/NM_002508.2/1;CC=c.526-41G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:6:0:0:22,15:673,475:0.00,43.82:0.00,1.17:0.00,42.66:0.00,1.00:0.00,0.94:0.00,1.00:60,60:11.1,50.7:0,0:0,0:111,86:39,65:21,29:-,NM_002508.2(NID1) c.526-41G>C:-,0.56:-,0.491073 1 236209081 rs3768089 G A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4345,A/0.5655;Gene=NID1/NM_002508.2/1;CC=c.526-98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:0:0:0:10,11:315,380:29.96,0.00:0.00,0.00:29.96,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:60.0,0.0:0,0:0,0:117,110:33,40:13,33:NM_002508.2(NID1) c.526-98C>T,-:0.54,-:NOT_FOUND,- 1 236212038 rs6665008 G A 191 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.9415,A/0.05851;Gene=NID1/NM_002508.2/1;CC=c.477C>T;ProtCh=p.S159=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:93:0:0:60,59:1981,1821:190.91,0.00:108.08,0.00:82.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,5.3:0,0:0,0:50,78:95,68:31,30:NM_002508.2(NID1) c.477C>T (p.(=)),-:0.06,-:0.085191,- 1 236212290 . C . . NT END=236228154;NT GT ./. 1 236227873 rs143391137 C A 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9848,A/0.01518;PC=0.002;Gene=NID1/NM_002508.2/1;CC=c.225+282G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,C:6:6:0:0:4,2:132,70:13.45,0.00:13.45,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:99.0,31.0:0,0:0,0:46,31:105,120:20,2:NM_002508.2(NID1) c.225+282G>T,-:0.02,-:NOT_FOUND,- 1 236228380 . G . . NT END=236305922;NT GT ./. 1 236228652 rs7548918 C A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5807,A/0.4193 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,C:11:0:0:0:5,6:143,145:13.41,0.00:0.00,0.00:13.41,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:73.0,13.8:0,0:0,0:55,78:96,72:9,23:NM_002508.2(NID1) c.-102-u171G>T,-:0.39,-:NOT_FOUND,- 1 236228681 rs2071528 G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7833,A/0.2167 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:10:0:0:0:4,6:95,181:8.47,0.00:0.00,0.00:8.47,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:83.2,13.8:0,0:0,0:79,107:71,43:9,23:NM_002508.2(NID1) c.-102-u200C>T,-:0.22,-:NOT_FOUND,- 1 236274147 rs7516388 G A 65 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.5877,A/0.4123;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:51:0:0:22,32:707,1011:65.34,0.00:64.80,0.00:0.54,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:37.9,0.6:0,0:0,0:31,39:118,105:22,17:chr1 g.236274146G>A (intergenic),-:0.41,-:NOT_FOUND,- 1 236274926 rs7542662 C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.594,T/0.406;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,T:7:6:0:0:2,5:64,147:0.00,15.24:0.00,15.79:0.00,-0.54:0.00,0.98:0.00,1.00:0.00,0.81:60,60:0.0,39.6:0,0:0,0:43,22:106,129:26,6:-,chr1 g.236274925C>T (intergenic):-,0.4:-,NOT_FOUND 1 236275077 rs7542837 C T 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4772,T/0.5228;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:20:15:0:0:2,18:65,594:0.00,65.14:0.00,38.87:0.00,26.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,42.6:0,0:0,0:58,65:93,81:22,25:-,chr1 g.236275076C>T (intergenic):-,0.51:-,NOT_FOUND 1 236275237 rs143038698 CAACATTGAA C 50 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=196;PC=0.037;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:CAACATTGAA,C:21:10:0:15:6,15:173,483:0.00,50.02:0.00,21.63:0.00,28.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,2.2:0,0:0,0:91,85:59,65:33,15:-,chr1 g.236275238_236275246delAACATTGAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 236275247 . A G 52 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:19:10:0:0:4,15:117,488:0.00,51.71:0.00,21.57:0.00,30.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,2.2:0,15:0,0:89,85:58,65:12,16:-,chr1 g.236275246A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 236275248 rs374931719 A T 46 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.514 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,T:19:10:0:0:4,15:123,432:0.00,46.04:0.00,17.93:0.00,28.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,2.2:0,15:0,0:90,86:57,64:12,16:-,chr1 g.236275247A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 236275380 rs10924217 A G 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4796,G/0.5204;PC=0.973 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,G:8:0:0:0:1,7:35,224:0.00,24.43:0.00,0.00:0.00,24.43:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,64.6:0,0:0,0:129,110:22,40:0,18:-,chr1 g.236275379A>G (intergenic):-,0.51:-,NOT_FOUND 1 236306337 . G . . NT END=236332005;NT GT ./. 1 236306535 rs7512803 A C 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5471,C/0.4529;Gene=GPR137B/NM_003272.3/1;CC=c.414+199A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C:9:0:0:0:6,3:142,94:0.00,8.37:0.00,0.00:0.00,8.37:0.00,0.64:0.00,0.00:0.00,0.64:60,60:22.3,46.0:0,0:0,0:134,45:17,105:10,39:-,NM_003272.3(GPR137B) c.414+199A>C:-,0.44:-,NOT_FOUND 1 236332056 . G . . NT END=236341713;NT GT ./. 1 236341937 . G . . NT END=236343178;NT GT ./. 1 236343329 . G . . NT END=236347077;NT GT ./. 1 236347207 . G . . NT END=236368425;NT GT ./. 1 236368227 rs1254207 C T 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3169,T/0.6831;PC=0.022;Gene=GPR137B/NM_003272.3/1;CC=c.967-199C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:20:0:0:7,13:206,344:0.00,34.91:0.00,34.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:32.3,48.6:0,0:0,0:55,68:95,83:30,39:-,NM_003272.3(GPR137B) c.967-199C>T:-,0.64:-,NOT_FOUND 1 236368551 . G . . NT END=236370432;NT GT ./. 1 236368708 rs1254206 T C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3367,C/0.6633;Gene=GPR137B/NM_003272.3/1;CC=c.1091+158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:8,7:279,215:27.22,0.00:0.00,0.00:27.22,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.9,16.7:0,0:0,0:108,60:42,89:16,34:NM_003272.3(GPR137B) c.1091+158T>C,-:0.63,-:NOT_FOUND,- 1 236370312 rs147679159 C CT 44 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.8415,CT/0.1585;NP=174;Gene=GPR137B/NM_003272.3/1;CC=c.1092-1032dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:27:27:14:0:13,14:433,453:0.00,43.86:0.00,42.11:0.00,1.75:0.00,1.00:0.00,1.00:0.00,0.68:60,60:8.2,10.1:1,0:0,0:68,42:82,108:32,25:-,NM_003272.3(GPR137B) c.1092-1038_1092-1037insT:-,0.14:-,NOT_FOUND 1 236370581 . G . . NT END=236371349;NT GT ./. 1 236370654 rs1254205 C T 78 nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.4355,T/0.5645;PC=0.034;Gene=GPR137B/NM_003272.3/1;CC=c.1092-696C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:10:0:0:22,27:721,796:0.00,77.80:0.00,8.01:0.00,69.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,52.8:0,0:0,0:128,116:21,35:17,32:-,NM_003272.3(GPR137B) c.1092-696C>T:-,0.56:-,NOT_FOUND 1 236370690 rs1254204 A C 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3996,C/0.6004;Gene=GPR137B/NM_003272.3/1;CC=c.1092-660A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:25:0:0:0:11,14:336,357:0.00,34.69:0.00,0.00:0.00,34.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.6,57.6:0,0:0,0:118,92:33,58:28,26:-,NM_003272.3(GPR137B) c.1092-660A>C:-,0.57:-,NOT_FOUND 1 236371260 rs1880913 C T 30 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.725,T/0.275;Gene=GPR137B/NM_003272.3/1;CC=c.1092-90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:16:0:0:8,9:268,305:0.00,29.69:0.00,28.54:0.00,1.15:0.00,1.00:0.00,1.00:0.00,0.95:60,60:11.2,33.9:0,0:0,0:23,58:127,93:8,27:-,NM_003272.3(GPR137B) c.1092-90C>T:-,0.23:-,NOT_FOUND 1 236371755 rs577944387 G GT 41 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7185,GT/0.2815;DB;DBA=NA;PAF=G/0.7185,GT/0.2815;DB;DBA=NA;PAF=G/0.7185,GT/0.2815;DB;DBA=NA;PAF=G/0.9912,T/0.008786;NP=52;PC=0.157;Gene=GPR137B/NM_003272.3/1;CC=c.*306dupT;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:57:30:17:0:41,1,15:1315,9,545:0.00,-0.18,41.12:0.00,-0.11,27.84:0.00,-0.07,13.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.7,103.0,21.9:0,0,2:0,0,0:89,85,78:61,65,73:37,0,32:-,NM_003272.3(GPR137B) c.*306dupT:-,NOT_FOUND:-,NOT_FOUND 1 236371831 rs5873 T C 81 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.7314,C/0.2686;PC=0.001;Gene=GPR137B/NM_003272.3/1;CC=c.*373T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:38:0:0:26,32:864,1050:81.48,0.00:54.95,0.00:26.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,6.2:0,0:0,0:64,82:83,65:27,23:NM_003272.3(GPR137B) c.*373T>C,-:0.24,-:NOT_FOUND,- 1 236372210 . T . . NT END=236381815;NT GT ./. 1 236381825 rs1055851 G C 34 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.4307,C/0.5693;PC=1.000;Gene=ERO1B/NM_019891.3/1;CC=c.1395C>G;ProtCh=p.H465Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:30:22:0:0:11,19:373,639:33.99,0.00:20.28,0.00:13.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.0,7.3:0,0:0,0:38,50:100,90:19,30:NM_019891.3(ERO1LB) c.1395C>G (p.His465Gln),-:0.57,-:0.431327,- 1 236381877 . C . . NT END=236384131;NT GT ./. 1 236381897 rs1615601 T A 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4307,A/0.5693;Gene=ERO1B/NM_019891.3/1;CC=c.1344-21A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:29:17:0:0:10,19:341,602:30.77,0.00:14.04,0.00:16.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:102.9,7.2:0,0:0,0:107,92:34,50:16,17:NM_019891.3(ERO1LB) c.1344-21A>T,-:0.57,-:0.429078,- 1 236381917 rs1614938 T A 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4307,A/0.5693;Gene=ERO1B/NM_019891.3/1;CC=c.1344-41A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:12:0:0:8,14:261,460:23.65,0.00:7.07,0.00:16.58,0.00:0.99,0.00:0.99,0.00:1.00,0.00:60,60:114.4,5.0:0,0:0,0:127,112:23,37:16,8:NM_019891.3(ERO1LB) c.1344-41A>T,-:0.57,-:0.428296,- 1 236381987 rs1749598 A G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ERO1B/NM_019891.3/1;CC=c.1344-111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:0:0:0:3,2:96,71:0.00,6.59:0.00,0.00:0.00,6.59:0.00,0.46:0.00,0.00:0.00,0.46:60,60:6.0,90.5:0,0:0,0:23,77:127,73:8,38:-,NM_019891.3(ERO1LB) c.1344-111T>C:-,0.56:-,NOT_FOUND 1 236383910 rs2463191 G A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4305,A/0.5695;Gene=ERO1B/NM_019891.3/1;CC=c.1343+222C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,G:7:7:0:0:3,4:77,130:7.03,0.00:7.03,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:52.7,5.8:0,0:0,0:48,35:102,115:31,17:NM_019891.3(ERO1LB) c.1343+222C>T,-:0.57,-:NOT_FOUND,- 1 236384022 rs547545197 A ATTT 18 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4289,AATT/0.001198,ATT/0.01298,ATTT/0.5493,ATTTT/0.004193;DB;DBA=NA;PAF=A/0.4289,ATT/0.01298,ATTT/0.5493;DB;DBA=NA;PAF=A/0.4289,ATTT/0.5493;DB;DBA=NA;PAF=A/0.4289,T/0.003395;NP=1;NP=1;NP=1;NP=45;NP=6;NP=662;PC=0.061;Gene=ERO1B/NM_019891.3/1;CC=c.1343+107_1343+109dupAAA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,ATTT:14:14:6:0:8,6:262,188:0.00,17.51:0.00,17.51:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:15.6,12.3:0,0:0,0:68,48:82,103:45,30:-,NM_019891.3(ERO1LB) c.1343+109_1343+110insAAA:-,NOT_FOUND:-,NOT_FOUND 1 236384266 . C . . NT END=236385223;NT GT ./. 1 236384278 rs1405624 G C 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4305,C/0.5695;Gene=ERO1B/NM_019891.3/1;CC=c.1210-13C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:38:16:0:0:17,21:505,727:47.23,0.00:12.34,0.00:34.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,6.6:0,0:0,0:91,72:59,78:17,26:NM_019891.3(ERO1LB) c.1210-13C>G,-:0.57,-:0.429154,- 1 236384402 rs1405623 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4305,G/0.5695;PC=0.006;Gene=ERO1B/NM_019891.3/1;CC=c.1210-137T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G:13:0:0:0:9,4:287,119:0.00,10.33:0.00,0.00:0.00,10.33:0.00,0.79:0.00,0.00:0.00,0.79:60,60:2.4,57.0:0,0:0,0:97,120:53,30:31,6:-,NM_019891.3(ERO1LB) c.1210-137T>C:-,0.57:-,NOT_FOUND 1 236385071 rs10647377 T TTTAATA 15 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4307,TATTAAT/.,TTTAATA/0.5693;NP=7;Gene=ERO1B/NM_019891.3/1;CC=c.1209+152_1209+153insTATTAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:T,TTTAATA:9:9:5:0:4,5:139,157:0.00,15.40:0.00,15.40:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:15.5,50.6:0,0:0,0:33,44:118,105:7,17:-,NM_019891.3(ERO1LB) c.1209+152_1209+153insTATTAA:-,NOT_FOUND:-,NOT_FOUND 1 236385116 rs2463190 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4307,T/0.5693;PC=0.001;Gene=ERO1B/NM_019891.3/1;CC=c.1209+108G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:16:0:0:10,7:330,194:0.00,17.73:0.00,14.10:0.00,3.62:0.00,0.98:0.00,1.00:0.00,0.81:60,60:6.2,64.1:0,0:0,0:40,62:110,88:30,50:-,NM_019891.3(ERO1LB) c.1209+108G>A:-,0.57:-,NOT_FOUND 1 236385165 rs2463189 G C 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4307,C/0.5693;Gene=ERO1B/NM_019891.3/1;CC=c.1209+59C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:26:22:0:0:13,13:408,411:39.15,0.00:26.26,0.00:12.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,15.0:0,0:0,0:45,36:105,115:6,20:NM_019891.3(ERO1LB) c.1209+59C>G,-:0.57,-:NOT_FOUND,- 1 236385311 . C . . NT END=236388369;NT GT ./. 1 236385360 rs2477587 C T 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4305,T/0.5695;PC=0.001;Gene=ERO1B/NM_019891.3/1;CC=c.1123-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:9:0:0:10,15:306,524:0.00,52.25:0.00,16.05:0.00,36.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,63.6:0,0:0,0:114,94:36,57:29,15:-,NM_019891.3(ERO1LB) c.1123-50G>A:-,0.57:-,0.431979 1 236385379 rs2463188 A G 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4305,G/0.5695;Gene=ERO1B/NM_019891.3/1;CC=c.1123-69T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:3:0:0:9,11:306,342:0.00,33.45:0.00,3.13:0.00,30.32:0.00,1.00:0.00,0.92:0.00,1.00:60,60:5.2,68.5:0,0:0,0:82,110:68,41:32,16:-,NM_019891.3(ERO1LB) c.1123-69T>C:-,0.57:-,NOT_FOUND 1 236385571 rs2463187 C A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4311,A/0.5689;PC=0.002;Gene=ERO1B/NM_019891.3/1;CC=c.1123-261G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,C:6:1:0:0:3,3:99,98:9.52,0.00:3.58,0.00:5.95,0.00:0.73,0.00:0.67,0.00:0.96,0.00:60,60:88.0,13.0:0,0:0,0:105,84:46,67:0,27:NM_019891.3(ERO1LB) c.1123-261G>T,-:0.57,-:NOT_FOUND,- 1 236385609 rs2477588 C T 10 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4305,T/0.5695;PC=0.010;Gene=ERO1B/NM_019891.3/1;CC=c.1123-299G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:5:1:0:0:2,3:63,100:0.00,9.97:0.00,3.55:0.00,6.41:0.00,0.78:0.00,0.73:0.00,0.97:60,60:10.5,88.0:0,0:0,0:108,143:42,8:13,0:-,NM_019891.3(ERO1LB) c.1123-299G>A:-,0.56:-,NOT_FOUND 1 236388346 rs3768092 G A 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.873,A/0.127;Gene=ERO1B/NM_019891.3/1;CC=c.1122+24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:31:0:0:15,21:515,605:48.08,0.00:31.71,0.00:16.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,4.2:0,0:0,0:56,41:95,109:27,26:NM_019891.3(ERO1LB) c.1122+24C>T,-:0.11,-:0.102952,- 1 236388440 . C . . NT END=236389568;NT GT ./. 1 236389816 . C . . NT END=236389946;NT GT ./. 1 236390040 . C . . NT END=236393523;NT GT ./. 1 236393551 . C . . NT END=236396127;NT GT ./. 1 236393654 rs2812471 A G 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.04373,G/0.9563;PC=0.005;Gene=ERO1B/NM_019891.3/1;CC=c.686-104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:3:0:0:11:349:40.12:4.95:35.17:1.00:1.00:1.00:60:69.7:0:0:128:22:9:NM_019891.3(ERO1LB) c.686-104T>C,NM_019891.3(ERO1LB) c.686-104T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 236395979 rs531048158 C CT 30 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=450;Gene=ERO1B/NM_019891.3/1;CC=c.685+148_685+149insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:CT:8:8:8:0:8:261:29.91:29.91:0.00:1.00:1.00:0.00:60:21.9:0:0:38:113:19:NM_019891.3(ERO1LB) c.685+148_685+149insA,NM_019891.3(ERO1LB) c.685+148_685+149insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 236396140 . C . . NT END=236399088;NT GT ./. 1 236396335 rs4659636 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6819,T/0.3181;Gene=ERO1B/NM_019891.3/1;CC=c.674-196G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:11:0:0:0:7,4:181,128:0.00,11.60:0.00,0.00:0.00,11.60:0.00,0.82:0.00,0.00:0.00,0.82:60,60:9.3,36.8:0,0:0,0:135,115:16,35:11,25:-,NM_019891.3(ERO1LB) c.674-196G>A:-,0.34:-,NOT_FOUND 1 236399136 . C . . NT END=236399577;NT GT ./. 1 236399442 rs1254194 G T 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6711,T/0.3289;PC=0.116;Gene=ERO1B/NM_019891.3/1;CC=c.626+136C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:24:0:0:12,13:355,360:0.00,34.67:0.00,33.19:0.00,1.48:0.00,1.00:0.00,1.00:0.00,0.81:60,60:12.3,49.0:0,0:0,0:49,37:101,111:41,13:-,NM_019891.3(ERO1LB) c.626+136C>A:-,0.34:-,NOT_FOUND 1 236399699 . C . . NT END=236406721;NT GT ./. 1 236406796 . C . . NT END=236413184;NT GT ./. 1 236413230 rs2477599 T A 56 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.6645,A/0.3355;PC=1.000;Gene=ERO1B/NM_019891.3/1;CC=c.386A>T;ProtCh=p.D129V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:39:30:0:0:18,21:589,676:55.81,0.00:24.35,0.00:31.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,2.8:0,0:0,0:102,60:43,70:24,37:NM_019891.3(ERO1LB) c.386A>T (p.Asp129Val),-:0.35,-:0.459969,- 1 236413268 . C . . NT END=236414725;NT GT ./. 1 236414732 . A . . NT END=236415349;NT GT ./. 1 236415392 . C . . NT END=236416721;NT GT ./. 1 236416806 . C . . NT END=236433174;NT GT ./. 1 236433135 rs3834089 AT A 155 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=AT/0.1901,A/0.8099;NP=3289;PC=0.146;Gene=ERO1B/NM_019891.3/1;CC=c.222+39delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:35:0:42:42:1345:154.51:99.31:55.20:1.00:1.00:1.00:70:7.2:0:0:57:87:33:NM_019891.3(ERO1LB) c.222+39delA,NM_019891.3(ERO1LB) c.222+39delA:0.83,0.83:0.823078,0.823078 1 236433295 . C . . NT END=236444981;NT GT ./. 1 236444879 rs56307934 G GGCCCGGCCCT 10 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.3626,GGCCCGGCCCT/0.6374;DB;DBA=NA;PAF=G/0.3626,GGCCCGGCCCT/0.6374;Gene=ERO1B/NM_019891.3/1;CC=c.102+93_102+102dupAGGGCCGGGC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,GGCCCGGCCCT:21:21:4:0:17,4:550,128:0.00,10.27:0.00,10.27:0.00,0.00:0.00,0.70:0.00,0.70:0.00,0.00:60,60:17.8,57.8:0,0:0,0:49,44:85,107:31,6:-,NM_019891.3(ERO1LB) c.102+102_102+103insAGGGCCGGGC:-,0.67:-,NOT_FOUND 1 236445084 . G . . NT END=236557744;NT GT ./. 1 236445212 rs2764567 A G 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.03435,G/0.9657;Gene=ERO1B/NM_019891.3/1;CC=c.-129T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:G:30:0:0:0:30:921:106.29:0.00:106.29:1.00:0.00:1.00:60:47.6:0:0:99:52:22:NM_019891.3(ERO1LB) c.-129T>C,NM_019891.3(ERO1LB) c.-129T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 236450018 rs56679438 C CA 18 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.007788,CA/0.9922;DB;DBA=NA;PAF=C/0.007788,CA/0.9922;DB;DBA=NA;PAF=C/0.007788,CA/0.9922;NP=3255;PC=0.912;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CA:5:4:5:0:5:160:18.38:9.04:9.34:1.00:1.00:1.00:60:0.0:0:0:108:42:20:NM_019891.3(ERO1LB) c.-256-u4680_-256-u4679insT,NM_019891.3(ERO1LB) c.-256-u4680_-256-u4679insT:0.96,0.96:NOT_FOUND,NOT_FOUND 1 236495425 rs10925100 T C 15 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.758,C/0.242;NP=372;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:1:4:134:15.31:1.99:13.32:1.00:1.00:1.00:60:45.8:0:0:96:54:32:chr1 g.236495424T>C (intergenic),chr1 g.236495424T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 236557771 rs966365 G A 282 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.2232,A/0.7768,T/.;Gene=EDARADD/NM_145861.2/1;CC=c.27G>A;ProtCh=p.M9I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:76:55:0:0:74,1,1:2473,5,9:281.68,0.03,0.10:139.28,0.00,0.10:142.40,0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.3,149.0,173.0:0,0,0:0,0,0:67,110,113:73,41,22:26,0,0:NM_145861.2(EDARADD) c.27G>A (p.Met9Ile),NM_145861.2(EDARADD) c.27G>A (p.Met9Ile):0.77,0.77:0.738352,0.738352 1 236557806 . G . . NT END=236558715;NT GT ./. 1 236557928 rs966364 G A 74 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.2276,A/0.7724;Gene=EDARADD/NM_145861.2/1;CC=c.61+123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:0:0:0:21:645:74.48:0.00:74.48:1.00:0.00:1.00:60:43.3:0:0:76:74:39:NM_145861.2(EDARADD) c.61+123G>A,NM_145861.2(EDARADD) c.61+123G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 1 236558961 . G . . NT END=236572515;NT GT ./. 1 236572389 rs659901 G A 45 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3868,A/0.6132;PC=0.001;Gene=EDARADD/NM_145861.2/1;CC=c.62-127G>A;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.32-127G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:389:45.06:45.06:0.00:1.00:1.00:0.00:60:80.2:0:0:20:130:15:NM_145861.2(EDARADD) c.62-127G>A,NM_145861.2(EDARADD) c.62-127G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 1 236572475 rs669710 A G 123 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5381,G/0.4619;Gene=EDARADD/NM_145861.2/1;CC=c.62-41A>G;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.32-41A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:31:0:0:34:1073:123.38:91.89:31.49:1.00:1.00:1.00:60:52.2:0:0:55:91:33:NM_145861.2(EDARADD) c.62-41A>G,NM_145861.2(EDARADD) c.62-41A>G:0.47,0.47:0.544749,0.544749 1 236572575 . G . . NT END=236577559;NT GT ./. 1 236577600 . G . . NT END=236590691;NT GT ./. 1 236577761 rs625444 T C 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6478,C/0.3522;NP=618;PC=0.002;Gene=EDARADD/NM_145861.2/1;CC=c.160+162T>C;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.130+162T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:337:38.47:0.00:38.47:1.00:0.00:1.00:60:86.0:0:0:88:62:33:NM_145861.2(EDARADD) c.160+162T>C,NM_145861.2(EDARADD) c.160+162T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 236577762 rs625443 C T 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.007788,CT/0.6342;DB;DBA=NA;PAF=C/0.007788,CT/0.6342;DB;DBA=NA;PAF=C/0.007788,T/0.358;NP=397;NP=578;PC=0.001;Gene=EDARADD/NM_145861.2/1;CC=c.160+163C>T;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.130+163C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:301:34.85:0.00:34.85:1.00:0.00:1.00:60:86.0:0:0:89:61:33:NM_145861.2(EDARADD) c.160+163C>T,NM_145861.2(EDARADD) c.160+163C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 236577800 rs665150 G A 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.655,A/0.345;PC=0.033;Gene=EDARADD/NM_145861.2/1;CC=c.160+201G>A;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.130+201G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:172:20.00:0.00:20.00:1.00:0.00:1.00:60:98.3:0:0:120:30:7:NM_145861.2(EDARADD) c.160+201G>A,NM_145861.2(EDARADD) c.160+201G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 1 236590497 rs1759388 C G 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6054,G/0.3946;Gene=EDARADD/NM_145861.2/1;CC=c.161-195C>G;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.131-195C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:419:48.51:48.51:0.00:1.00:1.00:0.00:60:73.6:0:0:43:107:23:NM_145861.2(EDARADD) c.161-195C>G,NM_145861.2(EDARADD) c.161-195C>G:0.42,0.42:NOT_FOUND,NOT_FOUND 1 236590563 rs1778861 C T 75 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6418,T/0.3582;PC=0.005;Gene=EDARADD/NM_145861.2/1;CC=c.161-129C>T;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.131-129C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:20:0:0:21:652:75.14:71.17:3.98:1.00:1.00:1.00:60:84.8:0:0:84:67:42:NM_145861.2(EDARADD) c.161-129C>T,NM_145861.2(EDARADD) c.161-129C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 1 236590629 rs636378 C T 134 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.642,T/0.358;Gene=EDARADD/NM_145861.2/1;CC=c.161-63C>T;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.131-63C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:29:0:0:36:1169:134.05:84.58:49.47:1.00:1.00:1.00:60:73.9:0:0:36:106:18:NM_145861.2(EDARADD) c.161-63C>T,NM_145861.2(EDARADD) c.161-63C>T:0.39,0.39:0.469969,0.469969 1 236590659 rs636048 G C 148 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.6418,C/0.3582;PC=0.017;Gene=EDARADD/NM_145861.2/1;CC=c.161-33G>C;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.131-33G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:99:C,T:40:31:0:0:39,1:1302,10:148.32,0.22:86.68,0.00:61.64,0.22:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.8,56.0:0,0:0,0:62,41:82,110:23,0:NM_145861.2(EDARADD) c.161-33G>C,NM_145861.2(EDARADD) c.161-33G>C:0.39,0.39:0.452142,0.452142 1 236590751 . G . . NT END=236631530;NT GT ./. 1 236590816 rs635487 T G 109 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.6046,G/0.3954;PC=0.243;Gene=EDARADD/NM_145861.2/1;CC=c.219+66T>G;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.189+66T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:11:0:0:29:951:108.93:23.75:85.18:1.00:1.00:1.00:60:38.9:0:0:112:39:23:NM_145861.2(EDARADD) c.219+66T>G,NM_145861.2(EDARADD) c.219+66T>G:0.42,0.42:0.50353,0.50353 1 236591003 rs634626 T A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6418,A/0.3582;Gene=EDARADD/NM_145861.2/1;CC=c.219+253T>A;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.189+253T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:165:18.88:0.00:18.88:1.00:0.00:1.00:60:37.2:0:0:128:22:21:NM_145861.2(EDARADD) c.219+253T>A,NM_145861.2(EDARADD) c.219+253T>A:0.39,0.39:NOT_FOUND,NOT_FOUND 1 236631577 . G . . NT END=236645566;NT GT ./. 1 236645346 rs34203493 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8638,T/0.1362;Gene=EDARADD/NM_145861.2/1;CC=c.266-221C>T;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.236-221C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:6:6:0:0:3,3:107,80:0.00,7.61:0.00,5.97:0.00,1.64:0.00,0.73:0.00,0.73:0.00,0.79:60,60:6.0,30.3:0,0:0,0:123,102:28,34:15,15:-,NM_145861.2(EDARADD) c.266-221C>T:-,0.15:-,NOT_FOUND 1 236645414 . CA C 8 idl,rn VT=DEL;SST=Single;DP=15;NP=9;PC=0.084;Gene=EDARADD/NM_145861.2/1;CC=c.266-136delA;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.236-136delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:CA,I,C:11:15:5:5:5,3,3:144,159,153:0.00,8.25,8.45:0.00,8.25,8.45:0.00,0.00,0.00:0.00,0.00,0.55:0.00,0.00,0.55:0.00,0.00,0.00:60,60,60:58.8,57.3,56.7:0,2,2:0,0,0:25,31,39:116,120,112:17,5,19:-,NM_145861.2(EDARADD) c.266-152delA:-,NOT_FOUND:-,NOT_FOUND 1 236645440 rs603158 C T 87 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.3892,T/0.6108;PC=0.007;Gene=EDARADD/NM_145861.2/1;CC=c.266-127C>T;VC=Intron;Gene=EDARADD/NM_080738.3/0;CC=c.236-127C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G,T:29:29:0:0:1,28:14,740:0.54,86.64:0.54,86.64:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:95.0,46.2:0,0:0,0:35,25:116,123:0,20:NM_145861.2(EDARADD) c.266-127C>T,NM_145861.2(EDARADD) c.266-127C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 1 236645670 rs604070 C T 189 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.8668,T/0.1332;PC=0.604;Gene=EDARADD/NM_145861.2/1;CC=c.369C>T;ProtCh=p.D123=;VC=Silent;Gene=EDARADD/NM_080738.3/0;CC=c.339C>T;ProtCh=p.D113=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:114:79:0:0:52,62:1678,1935:0.00,188.89:0.00,122.33:0.00,66.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,40.8:0,0:0,0:69,65:78,83:37,36:-,NM_145861.2(EDARADD) c.369C>T (p.(=)):-,0.14:-,0.189682 1 236645950 . A . . NT END=236689370;NT GT ./. 1 236647511 rs7513402 T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.746,C/0.254;PC=0.017;Gene=EDARADD/NM_145861.2/1;CC=c.*1562T>C;VC=3UTR;Gene=EDARADD/NM_080738.3/0;CC=c.*1562T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,T:12:5:0:0:4,8:129,251:11.49,0.00:5.97,0.00:5.52,0.00:0.98,0.00:0.86,0.00:0.92,0.00:60,60:54.8,20.0:0,0:0,0:61,64:90,77:30,21:NM_145861.2(EDARADD) c.*1562T>C,-:0.26,-:NOT_FOUND,- 1 236647550 rs3916983 C G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.147;Gene=EDARADD/NM_145861.2/1;CC=c.*1601C>G;VC=3UTR;Gene=EDARADD/NM_080738.3/0;CC=c.*1601C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,G:12:7:0:0:8,4:240,112:0.00,9.79:0.00,6.99:0.00,2.80:0.00,0.98:0.00,0.92:0.00,0.86:60,60:20.0,54.5:0,0:0,0:96,69:54,81:16,31:-,NM_145861.2(EDARADD) c.*1601C>G:-,0.21:-,NOT_FOUND 1 236647736 rs6428955 C T 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8622,T/0.1378;PC=0.998;Gene=EDARADD/NM_145861.2/1;CC=c.*1787C>T;VC=3UTR;Gene=EDARADD/NM_080738.3/0;CC=c.*1787C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:33:0:0:22,17:709,548:0.00,51.28:0.00,34.23:0.00,17.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,35.9:0,0:0,0:89,92:56,59:36,42:-,NM_145861.2(EDARADD) c.*1787C>T:-,0.15:-,NOT_FOUND 1 236689416 . G . . NT END=236700796;NT GT ./. 1 236689568 rs2251642 A G 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5877,G/0.4123;Gene=LGALS8/NM_201545.2/0;CC=c.45+153A>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.45+153A>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.45+153A>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.45+153A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,G:10:0:0:0:6,4:186,124:0.00,11.39:0.00,0.00:0.00,11.39:0.00,0.84:0.00,0.00:0.00,0.84:60,60:17.7,55.5:0,0:0,0:113,87:38,64:26,46:-,NM_006499.4(LGALS8) c.45+153A>G:-,0.47:-,NOT_FOUND 1 236700542 rs1810662 G C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.37,C/0.63;PC=0.041;Gene=LGALS8/NM_201545.2/0;CC=c.46-255G>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.46-255G>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.46-255G>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.46-255G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G:4:4:0:0:2,2:70,71:6.75,0.00:6.75,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:42,60:99.0,0.0:0,0:0,0:128,69:21,82:14,44:NM_006499.4(LGALS8) c.46-255G>C,-:0.6,-:NOT_FOUND,- 1 236700673 rs62670060 GAGC G 8 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=GAGC/0.5002,G/0.4998;DB;DBA=NA;PAF=GAGC/0.5002,G/0.4998;NP=962;PC=0.100;Gene=LGALS8/NM_201545.2/0;CC=c.46-121_46-119delCAG;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.46-121_46-119delCAG;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.46-121_46-119delCAG;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.46-121_46-119delCAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:GAGC,G:10:10:0:3:7,3:233,91:0.00,7.88:0.00,7.88:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:3.4,19.0:0,0:0,0:55,18:95,126:29,10:-,NM_006499.4(LGALS8) c.46-123_46-121delAGC:-,0.56:-,NOT_FOUND 1 236700807 rs1126407 T A 52 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.5002,A/0.4998;PC=1.000;Gene=LGALS8/NM_201545.2/0;CC=c.56T>A;ProtCh=p.F19Y;VC=Missense;Gene=LGALS8/NM_006499.4/1;CC=c.56T>A;ProtCh=p.F19Y;VC=Missense;Gene=LGALS8/NM_201543.2/0;CC=c.56T>A;ProtCh=p.F19Y;VC=Missense;Gene=LGALS8/NM_201544.2/0;CC=c.56T>A;ProtCh=p.F19Y;VC=Missense;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:42:33:0:0:19,23:557,738:52.17,0.00:34.73,0.00:17.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.7,16.7:0,0:0,0:25,52:95,97:16,15:NM_006499.4(LGALS8) c.56T>A (p.Phe19Tyr),-:0.56,-:0.618407,- 1 236700823 rs1041934 T C 51 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.5,C/0.5;PC=0.166;Gene=LGALS8/NM_201545.2/0;CC=c.72T>C;ProtCh=p.P24=;VC=Silent;Gene=LGALS8/NM_006499.4/1;CC=c.72T>C;ProtCh=p.P24=;VC=Silent;Gene=LGALS8/NM_201543.2/0;CC=c.72T>C;ProtCh=p.P24=;VC=Silent;Gene=LGALS8/NM_201544.2/0;CC=c.72T>C;ProtCh=p.P24=;VC=Silent;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:34:0:0:19,25:550,804:50.87,0.00:36.82,0.00:14.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.0,15.4:0,0:0,0:37,63:94,85:14,20:NM_006499.4(LGALS8) c.72T>C (p.(=)),-:0.56,-:0.618022,- 1 236700857 rs1041935 C T 58 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.5,T/0.5;PC=1.000;Gene=LGALS8/NM_201545.2/0;CC=c.106C>T;ProtCh=p.R36C;VC=Missense;Gene=LGALS8/NM_006499.4/1;CC=c.106C>T;ProtCh=p.R36C;VC=Missense;Gene=LGALS8/NM_201543.2/0;CC=c.106C>T;ProtCh=p.R36C;VC=Missense;Gene=LGALS8/NM_201544.2/0;CC=c.106C>T;ProtCh=p.R36C;VC=Missense;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:32:0:0:24,20:745,613:0.00,57.64:0.00,33.35:0.00,24.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.3,92.1:0,0:0,0:93,70:54,73:24,15:-,NM_006499.4(LGALS8) c.106C>T (p.Arg36Cys):-,0.56:-,0.61833 1 236700886 . G . . NT END=236702178;NT GT ./. 1 236700982 rs2737706 T C 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4998,C/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.134+97T>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.134+97T>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.134+97T>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.134+97T>C;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:8,12:269,391:24.87,0.00:0.00,0.00:24.87,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:50.6,19.8:0,0:0,0:84,70:66,81:36,21:NM_006499.4(LGALS8) c.134+97T>C,-:0.56,-:NOT_FOUND,- 1 236702117 rs2244809 T G 49 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.3688,G/0.6312;Gene=LGALS8/NM_201545.2/0;CC=c.135-62T>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.135-62T>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.135-62T>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.135-62T>G;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:39:36:0:0:18,21:526,659:49.44,0.00:48.64,0.00:0.80,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:95.7,6.6:0,0:0,0:80,70:70,79:36,30:NM_006499.4(LGALS8) c.135-62T>G,-:0.67,-:NOT_FOUND,- 1 236702153 rs2244808 G A 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.5042,A/0.4958;Gene=LGALS8/NM_201545.2/0;CC=c.135-26G>A;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.135-26G>A;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.135-26G>A;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.135-26G>A;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:43:0:0:21,29:702,912:65.46,0.00:50.06,0.00:15.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:106.5,4.6:0,0:0,0:38,75:97,76:32,45:NM_006499.4(LGALS8) c.135-26G>A,-:0.55,-:0.618022,- 1 236702209 rs1041936 C T 92 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.5829,T/0.4171;Gene=LGALS8/NM_201545.2/0;CC=c.165C>T;ProtCh=p.S55=;VC=Silent;Gene=LGALS8/NM_006499.4/1;CC=c.165C>T;ProtCh=p.S55=;VC=Silent;Gene=LGALS8/NM_201543.2/0;CC=c.165C>T;ProtCh=p.S55=;VC=Silent;Gene=LGALS8/NM_201544.2/0;CC=c.165C>T;ProtCh=p.S55=;VC=Silent;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:56:0:0:44,31:1451,996:0.00,92.32:0.00,63.53:0.00,28.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,93.1:0,0:0,0:55,53:93,98:29,27:-,NM_006499.4(LGALS8) c.165C>T (p.(=)):-,0.37:-,0.479932 1 236702210 rs112207881 A G 96 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.3696,G/0.6304;DB;DBA=NA;PAF=NA;Gene=LGALS8/NM_201545.2/0;CC=c.166A>G;ProtCh=p.M56V;VC=Missense;Gene=LGALS8/NM_006499.4/1;CC=c.166A>G;ProtCh=p.M56V;VC=Missense;Gene=LGALS8/NM_201543.2/0;CC=c.166A>G;ProtCh=p.M56V;VC=Missense;Gene=LGALS8/NM_201544.2/0;CC=c.166A>G;ProtCh=p.M56V;VC=Missense;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:56:0:0:44,32:1409,1037:0.00,96.49:0.00,66.53:0.00,29.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,90.8:0,0:0,0:56,54:93,97:23,25:-,NM_006499.4(LGALS8) c.166A>G (p.Met56Val):-,0.59:-,0.697524 1 236702374 rs2472126 G A 96 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=NA;PC=0.504;Gene=LGALS8/NM_201545.2/0;CC=c.330G>A;ProtCh=p.L110=;VC=Silent;Gene=LGALS8/NM_006499.4/1;CC=c.330G>A;ProtCh=p.L110=;VC=Silent;Gene=LGALS8/NM_201543.2/0;CC=c.330G>A;ProtCh=p.L110=;VC=Silent;Gene=LGALS8/NM_201544.2/0;CC=c.330G>A;ProtCh=p.L110=;VC=Silent;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:69:32:0:0:32,1,36:1007,10,1220:95.51,-0.09,0.00:28.04,-0.07,0.00:67.47,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.2,156.0,5.7:0,0,0:0,0,0:97,118,89:50,22,48:31,0,28:NM_006499.4(LGALS8) c.330G>A (p.(=)),-:0.51,-:0.566123,- 1 236702390 . G . . NT END=236703863;NT GT ./. 1 236702447 rs12744425 T G 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.5353,G/0.4647;Gene=LGALS8/NM_201545.2/0;CC=c.345+58T>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+58T>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+58T>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+58T>G;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:6:0:0:15,21:452,666:41.73,0.00:2.81,0.00:38.91,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:143.4,12.5:0,0:0,0:104,105:47,46:31,40:NM_006499.4(LGALS8) c.345+58T>G,-:0.53,-:NOT_FOUND,- 1 236702450 rs12744427 T C 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.5008,C/0.4992;Gene=LGALS8/NM_201545.2/0;CC=c.345+61T>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+61T>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+61T>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+61T>C;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:34:3:0:0:15,1,18:470,9,588:44.24,-0.03,0.00:3.17,-0.01,0.00:41.08,-0.02,0.00:1.00,0.00,0.00:0.84,0.00,0.00:1.00,0.00,0.00:60,60,60:143.4,43.0,10.8:0,0,0:0,0,0:107,57,112:44,94,38:31,0,29:NM_006499.4(LGALS8) c.345+61T>C,-:0.56,-:NOT_FOUND,- 1 236702475 rs11807205 A G 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.509,G/0.491;Gene=LGALS8/NM_201545.2/0;CC=c.345+86A>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+86A>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+86A>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+86A>G;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:1:0:0:15,12:465,404:0.00,38.08:0.00,-0.13:0.00,38.21:0.00,1.00:0.00,0.63:0.00,1.00:60,60:11.3,161.3:0,0:0,0:83,98:67,52:33,40:-,NM_006499.4(LGALS8) c.345+86A>G:-,0.56:-,NOT_FOUND 1 236702497 rs75886929 AGTTT A 24 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=AGTTT/0.5807,A/0.4193;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=AGTTT/0.5807,A/0.4193;DB;DBA=NA;PAF=AGTTT/0.5807,A/0.4193;NP=159;Gene=LGALS8/NM_201545.2/0;CC=c.345+114_345+117delTTTG;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+114_345+117delTTTG;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+114_345+117delTTTG;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+114_345+117delTTTG;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTTT,A:21:0:0:8:13,8:410,266:0.00,24.37:0.00,0.00:0.00,24.37:0.00,0.99:0.00,0.00:0.00,0.99:60,60:12.8,178.9:0,0:0,0:101,74:49,76:18,21:-,NM_006499.4(LGALS8) c.345+109_345+112delGTTT:-,0.42:-,NOT_FOUND 1 236702517 rs11807542 T C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5082,C/0.4918;Gene=LGALS8/NM_201545.2/0;CC=c.345+128T>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+128T>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+128T>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+128T>C;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:0:0:0:8,11:253,314:23.51,0.00:0.00,0.00:23.51,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:178.9,4.5:0,0:0,0:90,119:60,31:21,16:NM_006499.4(LGALS8) c.345+128T>C,-:0.55,-:NOT_FOUND,- 1 236702552 rs12758021 G A 22 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5016,A/0.4984;NP=13;Gene=LGALS8/NM_201545.2/0;CC=c.345+163G>A;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+163G>A;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+163G>A;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+163G>A;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:7,8:232,215:22.05,0.00:0.00,0.00:22.05,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:184.6,0.0:6,0:0,0:123,85:27,65:11,47:NM_006499.4(LGALS8) c.345+163G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 236702555 rs68141305 A AG 18 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.503,AG/0.497,AGGG/.;NP=4;Gene=LGALS8/NM_201545.2/0;CC=c.345+168dupG;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+168dupG;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+168dupG;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+168dupG;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,AG:15:0:6:0:9,6:287,195:0.00,17.98:0.00,0.00:0.00,17.98:0.00,0.96:0.00,0.00:0.00,0.96:60,60:16.3,190.8:0,0:0,0:102,110:48,40:35,18:-,NM_006499.4(LGALS8) c.345+166_345+167insG:-,NOT_FOUND:-,NOT_FOUND 1 236702558 rs115340578 T G 18 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.503,G/0.497;Gene=LGALS8/NM_201545.2/0;CC=c.345+169T>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+169T>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+169T>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+169T>G;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:14:0:0:0:6,8:197,246:18.41,0.00:0.00,0.00:18.41,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:190.8,0.0:6,0:0,0:114,91:36,59:18,47:NM_006499.4(LGALS8) c.345+169T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 236702559 rs79050396 A G 19 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5016,G/0.4984;PC=0.009;Gene=LGALS8/NM_201545.2/0;CC=c.345+170A>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.345+170A>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.345+170A>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.345+170A>G;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:0:0:0:8,6:240,198:0.00,18.52:0.00,0.00:0.00,18.52:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,190.8:0,6:0,0:92,115:58,35:47,18:-,NM_006499.4(LGALS8) c.345+170A>G:-,NOT_FOUND:-,NOT_FOUND 1 236703687 rs2799413 T C 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4968,C/0.5032;Gene=LGALS8/NM_201545.2/0;CC=c.346-177T>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.346-177T>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.346-177T>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.346-177T>C;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:8,9:254,290:24.11,0.00:24.11,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:121.5,8.6:0,0:0,0:79,35:70,114:30,17:NM_006499.4(LGALS8) c.346-177T>C,-:0.56,-:NOT_FOUND,- 1 236703700 rs2244659 A G 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4968,G/0.5032;Gene=LGALS8/NM_201545.2/0;CC=c.346-164A>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.346-164A>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.346-164A>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.346-164A>G;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:9,9:294,300:0.00,28.87:0.00,28.87:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.6,126.1:0,0:0,0:48,55:101,95:17,48:-,NM_006499.4(LGALS8) c.346-164A>G:-,0.56:-,NOT_FOUND 1 236703734 rs2243405 T C 41 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.3648,C/0.6352;Gene=LGALS8/NM_201545.2/0;CC=c.346-130T>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.346-130T>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.346-130T>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.346-130T>C;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:13,12:418,355:40.51,0.00:39.04,0.00:1.48,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:107.8,22.2:0,0:0,0:54,59:97,85:49,24:NM_006499.4(LGALS8) c.346-130T>C,-:0.67,-:NOT_FOUND,- 1 236703767 rs2758994 C T 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.4968,T/0.5032;Gene=LGALS8/NM_201545.2/0;CC=c.346-97C>T;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.346-97C>T;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.346-97C>T;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.346-97C>T;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:33:0:0:20,15:638,485:0.00,45.29:0.00,37.32:0.00,7.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.3,84.1:0,0:0,0:43,38:105,112:31,30:-,NM_006499.4(LGALS8) c.346-97C>T:-,0.56:-,NOT_FOUND 1 236703832 rs34818366 CG C 78 rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=2580;PC=0.183;Gene=LGALS8/NM_201545.2/0;CC=c.346-24delG;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.346-24delG;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.346-24delG;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.346-24delG;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,G,C:66:52:0:28:37,1,28:1141,12,837:0.00,-0.02,77.81:0.00,-0.16,55.58:0.00,0.14,22.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.7,73.0,37.3:0,0,0:0,0,0:57,74,58:91,77,91:25,0,32:-,NM_006499.4(LGALS8) c.346-31delG:-,NOT_FOUND:-,NOT_FOUND 1 236703984 . G . . NT END=236704953;NT GT ./. 1 236704813 rs2758169 A C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3686,C/0.6314;Gene=LGALS8/NM_201545.2/0;CC=c.466-141A>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.466-141A>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.466-141A>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.466-141A>C;VC=Intron;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,C:8:8:0:0:3,5:103,163:0.00,16.39:0.00,16.39:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,98.6:0,0:0,0:43,30:107,120:30,9:-,NM_006499.4(LGALS8) c.466-141A>C:-,0.67:-,NOT_FOUND 1 236704825 rs2853611 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5,A/0.5;Gene=LGALS8/NM_201545.2/0;CC=c.466-129G>A;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.466-129G>A;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.466-129G>A;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.466-129G>A;VC=Intron;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:8:8:0:0:5,3:149,104:14.98,0.00:14.98,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:98.6,0.0:0,0:0,0:42,55:108,95:9,30:NM_006499.4(LGALS8) c.466-129G>A,-:0.56,-:NOT_FOUND,- 1 236704888 rs144376212 ATAT A 21 idl,nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=LGALS8/NM_201545.2/0;CC=c.466-65_466-63delTAT;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.466-65_466-63delTAT;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.466-65_466-63delTAT;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.466-65_466-63delTAT;VC=Intron;DM=LGALS8/Gal-bind_lectin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAT,I,A:17:16:1:7:9,1,7:264,22,226:0.00,1.22,21.17:0.00,1.28,19.88:0.00,-0.05,1.29:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.88:60,60,60:14.1,110.0,60.3:0,0,7:0,0,0:57,105,47:94,45,103:16,0,30:-,NM_006499.4(LGALS8) c.466-65_466-63delTAT:-,NOT_FOUND:-,0.206687 1 236704893 rs145490157 A C 23 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4996,C/.,T/0.5004;Gene=LGALS8/NM_201545.2/0;CC=c.466-61A>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.466-61A>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.466-61A>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.466-61A>C;VC=Intron;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:14:0:1:8,7:262,239:0.00,22.74:0.00,21.41:0.00,1.33:0.00,0.99:0.00,1.00:0.00,0.92:60,60:3.2,60.3:0,14:0,0:54,49:95,101:17,30:-,NM_006499.4(LGALS8) c.466-61A>C:-,NOT_FOUND:-,NOT_FOUND 1 236704894 rs377507503 A AGGTT 21 sb;idl,nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4996,T/0.5004;DB;DBA=NA;PAF=NA;Gene=LGALS8/NM_201545.2/0;CC=c.466-60_466-59insGGTT;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.466-60_466-59insGGTT;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.466-60_466-59insGGTT;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.466-60_466-59insGGTT;VC=Intron;DM=LGALS8/Gal-bind_lectin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGGTT:15:14:7:1:8,7:239,217:0.00,20.55:0.00,19.32:0.00,1.23:0.00,0.99:0.00,1.00:0.00,0.92:60,60:3.2,60.3:0,7:0,0:55,50:94,100:17,30:-,NM_006499.4(LGALS8) c.466-60_466-59insGGTT:-,NOT_FOUND:-,0.365135 1 236704899 rs2853610 T A 25 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.5002,A/0.4998;NP=708;PC=0.003;Gene=LGALS8/NM_201545.2/0;CC=c.466-55T>A;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.466-55T>A;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.466-55T>A;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.466-55T>A;VC=Intron;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:15:0:0:8,8:259,265:24.90,0.00:23.71,0.00:1.19,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:66.5,3.2:1,0:0,0:82,60:68,89:34,17:NM_006499.4(LGALS8) c.466-55T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 236705011 . G . . NT END=236706060;NT GT ./. 1 236706341 . G . . NT END=236706859;NT GT ./. 1 236706352 rs2758174 A C 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4998,C/0.5002;PC=0.061;Gene=LGALS8/NM_201545.2/0;CC=c.675+12A>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.675+12A>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.549+265A>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.549+265A>C;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:33:11:0:0:15,18:471,576:0.00,56.31:0.00,10.96:0.00,45.35:0.00,1.00:0.00,0.98:0.00,1.00:60,60:11.0,72.2:0,0:0,0:97,93:53,56:30,24:-,NM_006499.4(LGALS8) c.675+12A>C:-,0.56:-,0.617023 1 236706371 rs2758175 A G 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4998,G/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.675+31A>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.675+31A>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.549+284A>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.549+284A>G;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:8:0:0:14,15:433,521:0.00,50.56:0.00,8.16:0.00,42.39:0.00,1.00:0.00,0.99:0.00,1.00:60,60:11.8,87.3:0,0:0,0:116,96:34,54:30,22:-,NM_006499.4(LGALS8) c.675+31A>G:-,0.56:-,0.619099 1 236706425 rs2244267 G A 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4998,A/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.675+85G>A;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.675+85G>A;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.549+338G>A;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.549+338G>A;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:3:0:0:10,10:339,314:32.65,0.00:3.38,0.00:29.27,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:109.0,7.0:0,0:0,0:108,62:43,88:30,46:NM_006499.4(LGALS8) c.675+85G>A,-:0.56,-:NOT_FOUND,- 1 236706467 rs2244261 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.4998,T/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.675+127C>T;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.675+127C>T;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.549+380C>T;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.549+380C>T;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:0:0:0:7,6:204,191:0.00,18.07:0.00,0.00:0.00,18.07:0.00,0.97:0.00,0.00:0.00,0.97:60,60:11.7,103.8:0,0:0,0:70,101:79,49:11,18:-,NM_006499.4(LGALS8) c.675+127C>T:-,0.56:-,NOT_FOUND 1 236706671 rs2243530 T A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.3223,A/0.6777;Gene=LGALS8/NM_201545.2/0;CC=c.676-189T>A;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.676-189T>A;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.550-189T>A;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.550-189T>A;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,T:11:11:0:0:5,6:122,159:11.27,0.00:11.27,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:66.8,11.8:0,0:0,0:74,66:77,84:23,48:NM_006499.4(LGALS8) c.676-189T>A,-:0.72,-:NOT_FOUND,- 1 236706780 rs2243527 C T 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.3221,T/0.6779;Gene=LGALS8/NM_201545.2/0;CC=c.676-80C>T;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.676-80C>T;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.550-80C>T;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.550-80C>T;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:28:0:0:20,10:629,305:0.00,26.96:0.00,22.56:0.00,4.40:0.00,1.00:0.00,1.00:0.00,0.92:60,60:8.0,68.9:0,0:0,0:29,60:121,91:19,33:-,NM_006499.4(LGALS8) c.676-80C>T:-,0.72:-,NOT_FOUND 1 236706862 rs2243525 G C 64 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3223,C/0.6777;Gene=LGALS8/NM_201545.2/0;CC=c.678G>C;ProtCh=p.R226S;VC=Missense;Gene=LGALS8/NM_006499.4/1;CC=c.678G>C;ProtCh=p.R226S;VC=Missense;Gene=LGALS8/NM_201543.2/0;CC=c.552G>C;ProtCh=p.R184S;VC=Missense;Gene=LGALS8/NM_201544.2/0;CC=c.552G>C;ProtCh=p.R184S;VC=Missense;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:54:41:0:0:2,22,30:22,690,995:0.22,64.07,0.00:0.50,31.05,0.00:-0.28,33.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:45.5,48.7,12.8:0,0,0:0,0,0:90,42,54:60,84,96:38,22,23:NM_006499.4(LGALS8) c.678G>C (p.Arg226Ser),-:0.72,-:0.742657,- 1 236706949 . G . . NT END=236708049;NT GT ./. 1 236707007 rs2799410 C T 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5707,T/0.4293;Gene=LGALS8/NM_201545.2/0;CC=c.764+59C>T;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.764+59C>T;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.638+59C>T;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.638+59C>T;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:1:0:0:6,8:211,233:0.00,22.91:0.00,1.82:0.00,21.09:0.00,1.00:0.00,0.71:0.00,1.00:60,60:7.0,66.9:0,0:0,0:77,122:73,28:42,15:-,NM_006499.4(LGALS8) c.764+59C>T:-,0.49:-,NOT_FOUND 1 236707036 rs2794786 A T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4998,T/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.764+88A>T;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.764+88A>T;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.638+88A>T;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.638+88A>T;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,T:9:0:0:0:4,5:132,154:0.00,15.10:0.00,0.00:0.00,15.10:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,85.0:0,0:0,0:72,97:78,54:19,40:-,NM_006499.4(LGALS8) c.764+88A>T:-,0.56:-,NOT_FOUND 1 236707045 rs2799409 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4996,T/0.5004;Gene=LGALS8/NM_201545.2/0;CC=c.764+97C>T;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.764+97C>T;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.638+97C>T;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.638+97C>T;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:10:0:0:0:4,6:114,188:0.00,18.74:0.00,0.00:0.00,18.74:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,70.3:0,0:0,0:81,62:69,88:19,52:-,NM_006499.4(LGALS8) c.764+97C>T:-,0.56:-,NOT_FOUND 1 236707828 rs72515936 A AG 12 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5711,AG/0.4289,AGG/.;DB;DBA=NA;PAF=A/0.5711,AG/0.4289;NP=344;Gene=LGALS8/NM_201545.2/0;CC=c.765-219dupG;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.765-219dupG;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.639-219dupG;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.639-219dupG;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,AG:9:9:4:0:5,4:155,126:0.00,11.82:0.00,11.82:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,18.0:1,0:0,0:9,24:142,127:9,18:-,NM_006499.4(LGALS8) c.765-222_765-221insG:-,0.5:-,NOT_FOUND 1 236708022 rs5781896 GT G 39 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1557;PC=0.028;Gene=LGALS8/NM_201545.2/0;CC=c.765-17delT;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.765-17delT;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.639-17delT;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.639-17delT;VC=Intron;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;DM=LGALS8/Gal-bind_lectin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:45:34:6:14:26,5,14:852,192,438:0.00,12.18,39.15:0.00,9.13,26.55:0.00,3.05,12.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.7,4.2,15.1:0,1,0:0,0,0:36,37,45:114,114,104:26,14,19:-,NM_006499.4(LGALS8) c.765-27delT:-,NOT_FOUND:-,NOT_FOUND 1 236708216 . G . . NT END=236711311;NT GT ./. 1 236708224 rs2244063 A C 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.4998,C/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.930+9A>C;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.930+9A>C;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.804+9A>C;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.804+9A>C;VC=Intron;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:41:20:0:0:20,21:613,685:0.00,66.18:0.00,21.50:0.00,44.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,41.0:0,0:0,0:87,94:43,41:35,30:-,NM_006499.4(LGALS8) c.930+9A>C:-,0.56:-,0.618176 1 236708316 rs2758181 A G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4998,G/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.930+101A>G;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.930+101A>G;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.804+101A>G;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.804+101A>G;VC=Intron;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:2:0:0:7,7:244,233:0.00,22.42:0.00,1.64:0.00,20.79:0.00,1.00:0.00,0.79:0.00,1.00:60,60:24.1,50.3:0,0:0,0:130,53:19,98:12,42:-,NM_006499.4(LGALS8) c.930+101A>G:-,0.56:-,NOT_FOUND 1 236708357 rs60495052 C CCCTT 13 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5,CCCTT/0.5;DB;DBA=NA;PAF=C/0.5,CCCTT/0.5;DB;DBA=NA;PAF=C/0.5,CCCTT/0.5;NP=549;Gene=LGALS8/NM_201545.2/0;CC=c.930+143_930+146dupCCTT;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.930+143_930+146dupCCTT;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.804+143_804+146dupCCTT;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.804+143_804+146dupCCTT;VC=Intron;DM=LGALS8/Gal-bind_lectin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CCCTT:6:0:4:0:2,4:66,130:0.00,13.25:0.00,0.00:0.00,13.25:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,33.8:0,0:0,0:107,80:43,70:30,7:-,NM_006499.4(LGALS8) c.930+142_930+143insCCTT:-,0.55:-,NOT_FOUND 1 236711297 rs2254823 A T 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4996,T/0.5004;PC=0.022;Gene=LGALS8/NM_201545.2/0;CC=c.931-15A>T;VC=Intron;Gene=LGALS8/NM_006499.4/1;CC=c.931-15A>T;VC=Intron;Gene=LGALS8/NM_201543.2/0;CC=c.805-15A>T;VC=Intron;Gene=LGALS8/NM_201544.2/0;CC=c.805-15A>T;VC=Intron;DM=LGALS8/Gal-bind_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:44:0:0:21,25:640,727:0.00,70.80:0.00,59.89:0.00,10.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.8,67.6:0,0:0,0:52,47:98,102:36,30:-,NM_006499.4(LGALS8) c.931-15A>T:-,0.56:-,0.61833 1 236711323 rs15701 T C 91 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.4996,C/0.5004;PC=0.988;Gene=LGALS8/NM_201545.2/0;CC=c.942T>C;ProtCh=p.Y314=;VC=Silent;Gene=LGALS8/NM_006499.4/1;CC=c.942T>C;ProtCh=p.Y314=;VC=Silent;Gene=LGALS8/NM_201543.2/0;CC=c.816T>C;ProtCh=p.Y272=;VC=Silent;Gene=LGALS8/NM_201544.2/0;CC=c.816T>C;ProtCh=p.Y272=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:52:0:0:29,28:941,871:90.75,0.00:74.53,0.00:16.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.4,8.3:0,0:0,0:48,47:103,102:29,33:NM_006499.4(LGALS8) c.942T>C (p.(=)),-:0.56,-:0.618176,- 1 236711462 . C . . NT END=236714201;NT GT ./. 1 236711586 rs1160 G A 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4998,A/0.5002;Gene=LGALS8/NM_201545.2/0;CC=c.*125G>A;VC=3UTR;Gene=LGALS8/NM_006499.4/1;CC=c.*125G>A;VC=3UTR;Gene=LGALS8/NM_201543.2/0;CC=c.*125G>A;VC=3UTR;Gene=LGALS8/NM_201544.2/0;CC=c.*125G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:1:0:0:7,9:204,308:18.94,0.00:1.66,0.00:17.29,0.00:0.98,0.00:0.62,0.00:0.98,0.00:60,60:30.7,2.7:0,0:0,0:96,81:55,69:28,36:NM_006499.4(LGALS8) c.*125G>A,-:0.56,-:NOT_FOUND,- 1 236714064 rs6989 A C 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.503,C/0.497;PC=0.093;Gene=LGALS8/NM_201545.2/0;CC=c.*2603A>C;VC=3UTR;Gene=LGALS8/NM_006499.4/1;CC=c.*2603A>C;VC=3UTR;Gene=LGALS8/NM_201543.2/0;CC=c.*2603A>C;VC=3UTR;Gene=LGALS8/NM_201544.2/0;CC=c.*2603A>C;VC=3UTR;Gene=HEATR1/NM_018072.5/1;CC=c.*138T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,C:13:13:0:0:2,11:67,338:0.00,36.55:0.00,36.55:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.0,32.9:0,0:0,0:70,50:80,101:19,15:-,NM_006499.4(LGALS8) c.*2603A>C:-,0.56:-,NOT_FOUND 1 236714291 . C . . NT END=236715298;NT GT ./. 1 236714292 rs74473767 T TAA 26 idl,rn VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=5;PC=1.000;Gene=LGALS8/NM_201545.2/0;CC=c.*2849_*2850insAA;VC=3UTR;Gene=LGALS8/NM_006499.4/1;CC=c.*2849_*2850insAA;VC=3UTR;Gene=LGALS8/NM_201543.2/0;CC=c.*2849_*2850insAA;VC=3UTR;Gene=LGALS8/NM_201544.2/0;CC=c.*2849_*2850insAA;VC=3UTR;Gene=HEATR1/NM_018072.5/1;CC=c.6347-3_6347-2insTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T,TAA,D:45:30:19:9:1,25,11,8:14,762,545,287:0.17,0.00,26.10,21.45:0.28,0.00,3.14,12.73:-0.12,0.00,22.96,8.72:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:160.0,21.4,93.2,23.2:0,0,8,1:0,0,0,0:137,126,95,89:13,19,48,61:0,20,24,1:-,NM_006499.4(LGALS8) c.*2832A[20]:-,NOT_FOUND:-,NOT_FOUND 1 236714335 rs2254487 C T 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.5731,T/0.4269;Gene=LGALS8/NM_201545.2/0;CC=c.*2874C>T;VC=3UTR;Gene=LGALS8/NM_006499.4/1;CC=c.*2874C>T;VC=3UTR;Gene=LGALS8/NM_201543.2/0;CC=c.*2874C>T;VC=3UTR;Gene=LGALS8/NM_201544.2/0;CC=c.*2874C>T;VC=3UTR;Gene=HEATR1/NM_018072.5/1;CC=c.6347-45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:12:0:0:18,20:492,668:0.00,65.03:0.00,5.77:0.00,59.26:0.00,1.00:0.00,1.00:0.00,1.00:60,70:15.9,80.3:0,0:0,0:113,81:32,67:19,23:-,NM_006499.4(LGALS8) c.*2874C>T:-,0.48:-,0.547273 1 236714384 rs2254483 G A 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5024,A/0.4976;PC=0.002;Gene=LGALS8/NM_201545.2/0;CC=c.*2923G>A;VC=3UTR;Gene=LGALS8/NM_006499.4/1;CC=c.*2923G>A;VC=3UTR;Gene=LGALS8/NM_201543.2/0;CC=c.*2923G>A;VC=3UTR;Gene=LGALS8/NM_201544.2/0;CC=c.*2923G>A;VC=3UTR;Gene=HEATR1/NM_018072.5/1;CC=c.6347-94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:2:0:0:17,10:568,309:57.19,0.00:1.46,0.00:55.73,0.00:1.00,0.00:0.89,0.00:1.00,0.00:70,60:71.1,10.0:0,0:0,0:108,112:35,30:31,23:NM_006499.4(LGALS8) c.*2923G>A,-:0.56,-:NOT_FOUND,- 1 236715408 . C . . NT END=236716880;NT GT ./. 1 236715517 rs3189 T C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5028,C/0.4972;Gene=LGALS8/NM_201545.2/0;CC=c.*4056T>C;VC=3UTR;Gene=LGALS8/NM_006499.4/1;CC=c.*4056T>C;VC=3UTR;Gene=LGALS8/NM_201543.2/0;CC=c.*4056T>C;VC=3UTR;Gene=LGALS8/NM_201544.2/0;CC=c.*4056T>C;VC=3UTR;Gene=HEATR1/NM_018072.5/1;CC=c.6238-110A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:15:0:0:0:10,5:312,165:31.82,0.00:0.00,0.00:31.82,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.0,15.0:0,0:0,0:67,99:83,52:45,23:NM_006499.4(LGALS8) c.*4056T>C,-:0.56,-:NOT_FOUND,- 1 236716686 rs1475133 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3261,A/0.6739;Gene=HEATR1/NM_018072.5/1;CC=c.6237+195C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:A,G:12:12:0:0:6,6:175,159:16.76,0.00:16.76,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:69.7,55.0:0,0:0,0:77,59:73,91:26,40:NM_018072.5(HEATR1) c.6237+195C>T,-:0.72,-:NOT_FOUND,- 1 236716741 rs1475132 G A 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5148,A/0.4852;Gene=HEATR1/NM_018072.5/1;CC=c.6237+140C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:A,G,T:19:19:0:0:12,6,1:342,185,13:34.86,0.00,0.46:32.97,0.00,0.46:1.89,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.75,0.00,0.00:60,60,60:63.7,1.5,256.0:0,0,0:0,0,0:41,45,123:109,106,28:15,24,0:NM_018072.5(HEATR1) c.6237+140C>T,-:0.55,-:NOT_FOUND,- 1 236716959 rs2275685 C T 146 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.5154,T/0.4846;Gene=HEATR1/NM_018072.5/1;CC=c.6159G>A;ProtCh=p.S2053=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:60:0:0:44,44:1259,1515:0.00,146.13:0.00,73.76:0.00,72.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,37.2:0,0:0,0:69,87:79,63:31,35:-,NM_018072.5(HEATR1) c.6159G>A (p.(=)):-,0.55:-,0.601261 1 236717040 . C . . NT END=236717897;NT GT ./. 1 236717104 rs2275686 A G 75 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.5152,G/0.4848;Gene=HEATR1/NM_018072.5/1;CC=c.6079-65T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:14:0:0:29,24:889,796:0.00,75.20:0.00,13.36:0.00,61.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,38.6:0,0:0,0:116,105:35,45:19,26:-,NM_018072.5(HEATR1) c.6079-65T>C:-,0.55:-,NOT_FOUND 1 236717614 rs2759004 A C 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3207,C/0.6793;PC=0.001;Gene=HEATR1/NM_018072.5/1;CC=c.6078+284T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,C:7:5:0:0:2,5:44,155:0.00,16.10:0.00,12.06:0.00,4.04:0.00,0.98:0.00,1.00:0.00,0.98:60,60:0.0,47.2:0,0:0,0:130,24:21,126:12,24:-,NM_018072.5(HEATR1) c.6078+284T>G:-,0.71:-,NOT_FOUND 1 236717926 rs2275687 T C 80 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.5152,C/0.4848;PC=1.000;Gene=HEATR1/NM_018072.5/1;CC=c.6050A>G;ProtCh=p.E2017G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:67:49:0:0:1,27,39:9,863,1268:-0.14,79.76,0.00:-0.05,35.06,0.00:-0.10,44.70,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:121.0,33.4,10.2:0,0,0:0,0,0:130,85,63:20,58,83:0,32,43:NM_018072.5(HEATR1) c.6050A>G (p.Glu2017Gly),-:0.55,-:0.601415,- 1 236718053 . C . . NT END=236718595;NT GT ./. 1 236718421 rs6668716 G C 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5152,C/0.4848;Gene=HEATR1/NM_018072.5/1;CC=c.5923+175C>G;VC=Intron;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:13:13:0:0:7,6:219,190:21.32,0.00:21.32,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:67.9,5.7:0,0:0,0:48,34:101,116:31,8:NM_018072.5(HEATR1) c.5923+175C>G,-:0.55,-:NOT_FOUND,- 1 236718524 rs6668848 G C 66 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.5895,C/0.4105;Gene=HEATR1/NM_018072.5/1;CC=c.5923+72C>G;VC=Intron;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:40:38:0:0:20,20:687,612:66.21,0.00:61.39,0.00:4.82,0.00:1.00,0.00:1.00,0.00:0.73,0.00:60,60:94.0,5.7:0,0:0,0:45,39:105,111:25,18:NM_018072.5(HEATR1) c.5923+72C>G,-:0.47,-:NOT_FOUND,- 1 236718561 rs6668926 G A 105 nt VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.5154,A/0.4846;PC=0.119;Gene=HEATR1/NM_018072.5/1;CC=c.5923+35C>T;VC=Intron;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:57:0:0:34,32:1087,1012:105.05,0.00:76.76,0.00:28.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:81.8,6.8:0,0:0,0:39,31:109,118:26,19:NM_018072.5(HEATR1) c.5923+35C>T,-:0.55,-:0.601338,- 1 236718620 rs1126627 T C 137 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.5152,C/0.4848;PC=1.000;Gene=HEATR1/NM_018072.5/1;CC=c.5899A>G;ProtCh=p.N1967D;VC=Missense;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:93:74:0:0:45,1,47:1433,13,1434:137.06,-0.02,0.00:87.54,0.08,0.00:49.52,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.8,52.0,6.9:0,0,0:0,0,0:74,45,58:75,106,89:37,0,35:NM_018072.5(HEATR1) c.5899A>G (p.Asn1967Asp),-:0.55,-:0.601492,- 1 236718765 . C . . NT END=236718850;NT GT ./. 1 236718956 . C . . NT END=236719104;NT GT ./. 1 236719135 rs1885532 T C 88 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.127,C/0.873;PC=0.698;Gene=HEATR1/NM_018072.5/1;CC=c.5619A>G;ProtCh=p.E1873=;VC=Silent;DM=HEATR1/BP28CT;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:45:0:0:30,35:928,1194:87.57,0.00:52.54,0.00:35.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.2,5.3:0,0:0,0:64,89:82,55:31,26:NM_018072.5(HEATR1) c.5619A>G (p.(=)),-:0.87,-:0.840766,- 1 236719193 rs1885533 A G 89 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.515,C/.,G/0.485,T/.;PC=0.040;Gene=HEATR1/NM_018072.5/1;CC=c.5561T>C;ProtCh=p.V1854A;VC=Missense;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:42:0:0:37,30:1124,952:0.00,89.46:0.00,32.76:0.00,56.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,76.4:0,0:0,0:54,67:90,83:37,25:-,NM_018072.5(HEATR1) c.5561T>C (p.Val1854Ala):-,0.55:-,0.601415 1 236719240 . C . . NT END=236719399;NT GT ./. 1 236719259 rs1885534 G A 87 nt VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.65,A/0.35;PC=0.915;Gene=HEATR1/NM_018072.5/1;CC=c.5515-20C>T;VC=Intron;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:72:46:0:0:29,1,41,1:941,12,1308,13:87.33,-0.04,0.00,0.00:37.91,-0.15,0.00,0.10:49.42,0.10,0.00,-0.10:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:64.1,83.0,8.3,100.0:0,0,0,0:0,0,0,0:78,98,84,26:67,53,66,124:39,0,27,0:NM_018072.5(HEATR1) c.5515-20C>T,-:0.42,-:0.45479,- 1 236719559 . C . . NT END=236720494;NT GT ./. 1 236719688 rs1407518 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3782,G/0.6218;Gene=HEATR1/NM_018072.5/1;CC=c.5356-130T>C;VC=Intron;DM=HEATR1/BP28CT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:14,9:396,285:0.00,26.12:0.00,0.00:0.00,26.12:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.8,34.6:0,0:0,0:106,101:45,50:37,35:-,NM_018072.5(HEATR1) c.5356-130T>C:-,0.66:-,NOT_FOUND 1 236720646 . C . . NT END=236721536;NT GT ./. 1 236720761 rs2799404 T C 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.3852,C/0.6148;Gene=HEATR1/NM_018072.5/1;CC=c.5205-116A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:4:0:0:13,16:388,464:36.32,0.00:2.47,0.00:33.85,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:54.6,9.5:0,0:0,0:71,122:80,28:35,18:NM_018072.5(HEATR1) c.5205-116A>G,-:0.66,-:NOT_FOUND,- 1 236720833 rs2759005 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5154,T/0.4846;Gene=HEATR1/NM_018072.5/1;CC=c.5205-188G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:8,7:213,233:0.00,22.19:0.00,0.00:0.00,22.19:0.00,0.99:0.00,0.00:0.00,0.99:60,60:6.5,74.0:0,0:0,0:99,107:51,44:21,23:-,NM_018072.5(HEATR1) c.5205-188G>A:-,0.55:-,NOT_FOUND 1 236721452 rs537572616 G GA 13 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=3;Gene=HEATR1/NM_018072.5/1;CC=c.5204+84dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,G,GA,D:41:43:7:3:2,31,5,3:46,929,230,90:2.34,0.00,12.66,6.00:2.37,0.00,12.74,6.05:-0.03,0.00,-0.08,-0.05:0.00,0.00,0.75,0.00:0.00,0.00,0.75,0.00:0.00,0.00,0.37,0.00:60,60,60,60:23.0,12.2,4.8,57.3:1,0,2,0:0,0,0,0:8,36,33,42:143,115,116,109:7,22,12,15:-,NM_018072.5(HEATR1) c.5204+84_5204+85insT:-,NOT_FOUND:-,NOT_FOUND 1 236721610 rs2275688 G A 176 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.3852,A/0.6148;PC=0.023;Gene=HEATR1/NM_018072.5/1;CC=c.5131C>T;ProtCh=p.L1711=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:119:85:0:0:56,1,62:1843,8,2046:175.54,-0.17,0.00:84.05,-0.06,0.00:91.49,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.0,95.0,10.6:0,0,0:0,0,0:71,149,83:71,2,62:34,0,31:NM_018072.5(HEATR1) c.5131C>T (p.(=)),-:0.66,-:0.692911,- 1 236721660 rs2275689 T C 175 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=T/0.3227,C/0.6773;Gene=HEATR1/NM_018072.5/1;CC=c.5081A>G;ProtCh=p.N1694S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:111:57:0:0:55,56:1820,1753:174.78,0.00:74.30,0.00:100.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.4,22.2:0,0:0,0:86,81:65,65:37,36:NM_018072.5(HEATR1) c.5081A>G (p.Asn1694Ser),-:0.72,-:0.742888,- 1 236721731 rs819431 T C 339 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=3467;Gene=HEATR1/NM_018072.5/1;CC=c.5010A>G;ProtCh=p.A1670=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:94:55:0:0:94:2944:338.92:160.87:178.05:1.00:1.00:1.00:60:48.6:0:0:77:68:40:NM_018072.5(HEATR1) c.=,NM_018072.5(HEATR1) c.=:1,1:0.998693,0.998693 1 236721830 . C . . NT END=236722294;NT GT ./. 1 236722182 rs819432 A T 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=3427;Gene=HEATR1/NM_018072.5/1;CC=c.4911+113T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:21:0:0:24:722:83.59:71.72:11.87:1.00:1.00:1.00:60:36.7:0:0:45:105:41:NM_018072.5(HEATR1) c.4911+113T>A,NM_018072.5(HEATR1) c.4911+113T>A:1,1:NOT_FOUND,NOT_FOUND 1 236722436 . C . . NT END=236723013;NT GT ./. 1 236722489 rs2146122 C T 40 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.3844,T/0.6156;Gene=HEATR1/NM_018072.5/1;CC=c.4771-54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:27:4:0:0:13,1,13:423,11,412:0.00,0.14,39.57:0.00,-0.02,5.99:0.00,0.16,33.57:0.00,0.00,1.00:0.00,0.00,0.93:0.00,0.00,1.00:60,60,60:21.2,119.0,37.9:0,0,0:0,0,0:109,25,119:42,126,32:23,0,16:-,NM_018072.5(HEATR1) c.4771-54G>A:-,0.66:-,NOT_FOUND 1 236723138 . C . . NT END=236724524;NT GT ./. 1 236723177 rs10754576 G A 108 nt VT=SNV;PN=G;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.5709,A/0.4291;Gene=HEATR1/NM_018072.5/1;CC=c.4647-40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:50:0:0:37,51:1165,1666:108.14,0.00:35.16,0.00:72.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.0,7.8:0,0:0,0:99,100:48,42:24,26:NM_018072.5(HEATR1) c.4647-40C>T,-:0.43,-:0.485084,- 1 236723178 rs10754577 C A 109 nt VT=SNV;PN=G;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.5709,A/0.4291;Gene=HEATR1/NM_018072.5/1;CC=c.4647-41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:87:49:0:0:37,50:1172,1692:109.09,0.00:36.02,0.00:73.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.0,8.3:0,0:0,0:101,97:45,42:25,30:NM_018072.5(HEATR1) c.4647-41G>T,-:0.42,-:0.485084,- 1 236724504 rs1077439 G A 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4211,A/0.5789,T/.;PC=0.002;Gene=HEATR1/NM_018072.5/1;CC=c.4646+21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:24:0:0:17,12:546,398:54.19,0.00:33.92,0.00:20.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.2,2.3:0,0:0,0:56,32:86,116:33,12:NM_018072.5(HEATR1) c.4646+21C>T,-:0.62,-:0.643165,- 1 236724572 . C . . NT END=236727797;NT GT ./. 1 236724605 rs1077438 G T 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.4213,T/0.5787;Gene=HEATR1/NM_018072.5/1;CC=c.4600-34C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:26:0:0:16,26:524,860:0.00,86.30:0.00,37.42:0.00,48.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,58.5:0,0:0,0:116,85:34,44:17,27:-,NM_018072.5(HEATR1) c.4600-34C>A:-,0.62:-,0.645109 1 236724715 rs1077437 T G 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4211,G/0.5789;Gene=HEATR1/NM_018072.5/1;CC=c.4600-144A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:G,T:12:0:0:0:10,2:293,65:31.64,0.00:0.00,0.00:31.64,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:64.8,0.0:0,0:0,0:111,99:40,50:16,42:NM_018072.5(HEATR1) c.4600-144A>C,-:0.62,-:NOT_FOUND,- 1 236724766 rs1077436 C T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4215,T/0.5785;Gene=HEATR1/NM_018072.5/1;CC=c.4600-195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,T:6:0:0:0:2,4:49,128:0.00,13.06:0.00,0.00:0.00,13.06:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,67.2:0,0:0,0:79,84:71,67:29,46:-,NM_018072.5(HEATR1) c.4600-195G>A:-,0.62:-,NOT_FOUND 1 236727962 . C . . NT END=236729218;NT GT ./. 1 236728150 rs2799434 A G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5839,G/0.4161;PC=0.072;Gene=HEATR1/NM_018072.5/1;CC=c.4436-189T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:7:0:0:0:3,4:95,133:0.00,13.13:0.00,0.00:0.00,13.13:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,33.2:0,0:0,0:120,91:30,60:22,43:-,NM_018072.5(HEATR1) c.4436-189T>C:-,0.48:-,NOT_FOUND 1 236729346 . C . . NT END=236729945;NT GT ./. 1 236729458 rs2564744 G C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6324,C/0.3676;Gene=HEATR1/NM_018072.5/1;CC=c.4309-113C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,G:16:2:0:0:7,9:184,308:16.95,0.00:1.68,0.00:15.26,0.00:0.98,0.00:0.74,0.00:0.98,0.00:60,60:42.7,0.0:0,0:0,0:72,115:79,36:18,14:NM_018072.5(HEATR1) c.4309-113C>G,-:0.44,-:NOT_FOUND,- 1 236729698 rs2758171 C G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5625,G/0.4375;Gene=HEATR1/NM_018072.5/1;CC=c.4308+248G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G:5:4:0:0:1,4:32,112:0.00,11.98:0.00,12.68:0.00,-0.70:0.00,0.96:0.00,1.00:0.00,0.87:60,60:22.0,60.8:0,0:0,0:131,41:19,109:0,29:-,NM_018072.5(HEATR1) c.4308+248G>C:-,0.49:-,NOT_FOUND 1 236729732 rs397801971 C CAGA 9 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=63;Gene=HEATR1/NM_018072.5/1;CC=c.4308+213_4308+214insTCT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,CAGA:8:8:3:0:5,3:108,101:0.00,9.25:0.00,9.25:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:36.6,36.3:0,0:0,0:14,53:137,96:8,15:-,NM_018072.5(HEATR1) c.4308+213_4308+214insTCT:-,0.66:-,NOT_FOUND 1 236729867 rs2758172 C T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5627,T/0.4373;Gene=HEATR1/NM_018072.5/1;CC=c.4308+79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:C,T:17:17:0:0:11,6:323,182:0.00,16.27:0.00,16.27:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:19.7,63.3:0,0:0,0:57,43:94,107:25,16:-,NM_018072.5(HEATR1) c.4308+79G>A:-,0.49:-,NOT_FOUND 1 236729956 rs653737 T C 52 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.9107,C/0.08926;PC=0.001;Gene=HEATR1/NM_018072.5/1;CC=c.4298A>G;ProtCh=p.Y1433C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:36:0:0:17,23:554,715:51.67,0.00:32.92,0.00:18.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,11.2:0,0:0,0:56,48:93,102:24,27:NM_018072.5(HEATR1) c.4298A>G (p.Tyr1433Cys),-:0.1,-:0.12302,- 1 236730177 . C . . NT END=236732295;NT GT ./. 1 236732054 rs2799430 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3401,G/0.6599;PC=0.003;Gene=HEATR1/NM_018072.5/1;CC=c.4077+242T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,G:7:6:0:0:3,4:103,126:0.00,12.43:0.00,9.00:0.00,3.43:0.00,0.90:0.00,0.99:0.00,0.71:60,60:0.0,43.5:0,0:0,0:23,95:127,55:2,27:-,NM_018072.5(HEATR1) c.4077+242T>C:-,0.7:-,NOT_FOUND 1 236732198 rs12135604 C A 19 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4491,A/0.5509;NP=93;PC=0.001;Gene=HEATR1/NM_018072.5/1;CC=c.4077+98G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,C,I,D:22:21:2:2:7,11,2,2:208,358,67,65:18.82,0.00,5.12,4.92:19.07,0.00,5.18,3.66:-0.25,0.00,-0.06,1.26:0.97,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.71,0.00,0.00,0.00:60,60,60,60:81.4,20.0,24.5,5.5:3,0,0,0:0,0,0,0:28,34,47,31:123,115,102,112:10,15,12,26:NM_018072.5(HEATR1) c.4077+98G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 236732199 rs76883267 A AC 7 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4491,AC/0.5509;DB;DBA=NA;PAF=NA;NP=21;NP=8;Gene=HEATR1/NM_018072.5/1;CC=c.4077+96_4077+97insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,C,AC:21:20:3:2:17,1,3:523,17,97:0.00,0.54,7.46:0.00,0.59,7.60:0.00,-0.04,-0.13:0.00,0.00,0.49:0.00,0.00,0.90:0.00,0.00,0.42:60,60,60:33.0,136.0,47.3:2,0,0:0,0,0:37,17,26:113,124,125:13,0,3:-,NM_018072.5(HEATR1) c.4077+96_4077+97insG:-,NOT_FOUND:-,NOT_FOUND 1 236732425 . C . . NT END=236734650;NT GT ./. 1 236734773 . C . . NT END=236734867;NT GT ./. 1 236734987 . C . . NT END=236735710;NT GT ./. 1 236735855 . C . . NT END=236736024;NT GT ./. 1 236735939 rs2853602 T C 83 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.6306,C/0.3694;Gene=HEATR1/NM_018072.5/1;CC=c.3564-85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:26:0:0:28,25:861,819:83.48,0.00:45.11,0.00:38.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,10.4:0,0:0,0:80,78:70,73:35,39:NM_018072.5(HEATR1) c.3564-85A>G,-:0.44,-:NOT_FOUND,- 1 236736129 . C . . NT END=236737501;NT GT ./. 1 236737634 . C . . NT END=236737960;NT GT ./. 1 236737874 rs74614923 CT C 12 idl,rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=30;PC=0.002;Gene=HEATR1/NM_018072.5/1;CC=c.3327+86delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CT,I,C:37:27:4:5:28,4,5:933,125,158:0.00,9.16,12.08:0.00,7.02,6.83:0.00,2.14,5.24:0.00,0.00,0.77:0.00,0.00,0.94:0.00,0.00,0.73:60,60,60:17.8,9.2,1.6:0,0,0:0,0,0:71,25,82:79,125,68:43,8,37:-,NM_018072.5(HEATR1) c.3327+86delA:-,NOT_FOUND:-,NOT_FOUND 1 236738204 . C . . NT END=236739518;NT GT ./. 1 236739301 rs2853598 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5431,C/0.4569;Gene=HEATR1/NM_018072.5/1;CC=c.3084+218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:C,T:5:5:0:0:4,1:136,22:14.42,0.00:14.42,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:49.2,0.0:0,0:0,0:40,150:110,1:14,0:NM_018072.5(HEATR1) c.3084+218A>G,-:0.52,-:NOT_FOUND,- 1 236739416 rs2115740 C T 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4399,T/0.5601;Gene=HEATR1/NM_018072.5/1;CC=c.3084+103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:18:0:0:8,11:282,344:0.00,34.03:0.00,27.19:0.00,6.84:0.00,1.00:0.00,1.00:0.00,0.97:60,60:5.9,39.9:0,0:0,0:45,34:105,115:19,18:-,NM_018072.5(HEATR1) c.3084+103G>A:-,0.62:-,NOT_FOUND 1 236739678 . C . . NT END=236740079;NT GT ./. 1 236739866 rs2794773 A T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4403,T/0.5597;Gene=HEATR1/NM_018072.5/1;CC=c.2926-189T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,T:10:6:0:0:5,5:162,142:0.00,13.55:0.00,9.42:0.00,4.12:0.00,0.95:0.00,0.73:0.00,0.94:60,60:1.8,62.2:0,0:0,0:45,95:105,56:29,21:-,NM_018072.5(HEATR1) c.2926-189T>A:-,0.62:-,NOT_FOUND 1 236739888 rs2853596 T A 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4403,A/0.5597;Gene=HEATR1/NM_018072.5/1;CC=c.2925+192A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,T:13:10:0:0:8,5:268,151:26.87,0.00:20.25,0.00:6.62,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:51.2,5.2:0,0:0,0:38,65:111,86:31,27:NM_018072.5(HEATR1) c.2925+192A>T,-:0.62,-:NOT_FOUND,- 1 236740039 rs6658793 G C 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.4405,C/0.5595;Gene=HEATR1/NM_018072.5/1;CC=c.2925+41C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:42:36:0:0:18,24:617,805:57.84,0.00:45.18,0.00:12.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,11.5:0,0:0,0:57,37:93,93:21,26:NM_018072.5(HEATR1) c.2925+41C>G,-:0.62,-:0.635091,- 1 236740250 . C . . NT END=236744521;NT GT ./. 1 236744268 rs1253242 T C 14 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3948,C/0.6052;Gene=HEATR1/NM_018072.5/1;CC=c.2755+254A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:125:14.40:12.42:1.99:1.00:1.00:1.00:60:47.0:0:0:86:64:27:NM_018072.5(HEATR1) c.2755+254A>G,NM_018072.5(HEATR1) c.2755+254A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 236744309 rs1253241 G A 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8518,A/0.1482;Gene=HEATR1/NM_018072.5/1;CC=c.2755+213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:7:7:0:0:3,4:91,127:8.45,0.00:8.58,0.00:-0.12,0.00:0.69,0.00:0.69,0.00:0.62,0.00:60,60:50.7,17.2:0,0:0,0:38,40:113,110:9,19:NM_018072.5(HEATR1) c.2755+213C>T,-:0.17,-:NOT_FOUND,- 1 236744424 rs397749475 A AT 27 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5441,AT/0.4553,ATT/0.000599;DB;DBA=NA;PAF=A/0.5441,AT/0.4553;DB;DBA=NA;PAF=A/0.5441,AT/0.4553;NP=2001;PC=0.004;Gene=HEATR1/NM_018072.5/1;CC=c.2755+97dupA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:22:22:9:0:13,9:410,291:0.00,26.93:0.00,26.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.6,15.1:0,0:0,0:36,42:115,103:22,26:-,NM_018072.5(HEATR1) c.2755+97_2755+98insA:-,0.51:-,NOT_FOUND 1 236744712 rs4518892 C A 56 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.5853,A/0.4147,T/.;PC=0.926;Gene=HEATR1/NM_018072.5/1;CC=c.2565G>T;ProtCh=p.V855=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:44:22:0:0:19,25:602,807:56.20,0.00:25.56,0.00:30.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.1,12.8:0,0:0,0:78,100:47,50:25,34:NM_018072.5(HEATR1) c.2565G>T (p.(=)),-:0.48,-:0.521452,- 1 236744715 . C . . NT END=236746035;NT GT ./. 1 236744720 rs397983365 TA T 56 idl,rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=TA/0.6737,T/0.3263;DB;DBA=NA;PAF=TA/0.6737,T/0.3263;NP=254;Gene=HEATR1/NM_018072.5/1;CC=c.2563-7delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:39:19:2:22:19,1,19:527,52,675:0.00,0.70,56.06:0.00,-0.09,17.97:0.00,0.79,38.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:35.5,44.0,28.2:0,1,3:0,0,0:92,62,101:27,88,49:32,49,20:-,NM_018072.5(HEATR1) c.2563-7delT:-,NOT_FOUND:-,NOT_FOUND 1 236744854 rs12065886 T C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3594,C/0.6406;PC=0.001;Gene=HEATR1/NM_018072.5/1;CC=c.2563-140A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:10,10:317,309:30.42,0.00:0.00,0.00:30.42,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.6,1.1:0,0:0,0:98,83:52,66:31,43:NM_018072.5(HEATR1) c.2563-140A>G,-:0.68,-:NOT_FOUND,- 1 236745736 rs71738766 CT C 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=48;PC=0.008;Gene=HEATR1/NM_018072.5/1;CC=c.2562+299delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CT,C:4:4:0:2:2,2:65,67:0.00,6.45:0.00,4.71:0.00,1.74:0.00,0.94:0.00,0.94:0.00,0.67:60,60:0.0,59.5:0,0:0,0:40,76:110,74:32,59:-,NM_018072.5(HEATR1) c.2562+299delA:-,0.55:-,NOT_FOUND 1 236745796 rs2758187 G A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5631,A/0.4369;PC=0.019;Gene=HEATR1/NM_018072.5/1;CC=c.2562+240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,G:10:9:0:0:4,6:137,154:12.73,0.00:9.15,0.00:3.58,0.00:0.84,0.00:0.98,0.00:0.60,0.00:60,60:60.5,5.7:0,0:0,0:48,46:102,103:33,20:NM_018072.5(HEATR1) c.2562+240C>T,-:0.49,-:NOT_FOUND,- 1 236746173 . C . . NT END=236746312;NT GT ./. 1 236746275 rs2794769 G C 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.4814,C/0.5186;Gene=HEATR1/NM_018072.5/1;CC=c.2425+38C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:36:0:0:26,31:839,1015:79.23,0.00:39.12,0.00:40.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,9.6:0,0:0,0:77,76:73,75:35,35:NM_018072.5(HEATR1) c.2425+38C>G,-:0.58,-:0.580348,- 1 236746443 rs2794768 C T 120 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.4814,T/0.5186;PC=0.003;Gene=HEATR1/NM_018072.5/1;CC=c.2295G>A;ProtCh=p.V765=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:42:0:0:38,38:1290,1244:0.00,119.63:0.00,45.36:0.00,74.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,38.4:0,0:0,0:75,84:75,65:26,31:-,NM_018072.5(HEATR1) c.2295G>A (p.(=)):-,0.58:-,0.580271 1 236746497 . C . . NT END=236748324;NT GT ./. 1 236748505 rs1006456 T C 138 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.4814,C/0.5186;PC=0.992;Gene=HEATR1/NM_018072.5/1;CC=c.2061A>G;ProtCh=p.L687=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:43:0:0:41,29:1394,911:138.34,0.00:66.30,0.00:72.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.6,22.9:0,0:0,0:90,91:59,56:25,28:NM_018072.5(HEATR1) c.2061A>G (p.(=)),-:0.58,-:0.580194,- 1 236748517 . C . . NT END=236749119;NT GT ./. 1 236748570 rs657629 T C 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.8562,C/0.1438;Gene=HEATR1/NM_018072.5/1;CC=c.2050-54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:17:0:0:16,27:538,846:49.12,0.00:14.70,0.00:34.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,58.5:0,0:0,0:101,109:47,41:27,26:NM_018072.5(HEATR1) c.2050-54A>G,-:0.15,-:NOT_FOUND,- 1 236748630 rs1006455 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4814,T/0.5186;Gene=HEATR1/NM_018072.5/1;CC=c.2050-114G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:7,13:212,410:0.00,41.60:0.00,0.00:0.00,41.60:0.00,1.00:0.00,0.00:0.00,1.00:60,60:29.1,75.9:0,0:0,0:85,105:66,46:32,28:-,NM_018072.5(HEATR1) c.2050-114G>A:-,0.58:-,NOT_FOUND 1 236748636 rs1006454 G A 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.5717,A/0.4283;Gene=HEATR1/NM_018072.5/1;CC=c.2050-120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:12,8:334,268:33.23,0.00:0.00,0.00:33.23,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:76.2,25.5:0,0:0,0:108,79:42,72:28,22:NM_018072.5(HEATR1) c.2050-120C>T,-:0.49,-:NOT_FOUND,- 1 236749022 rs10925166 G A 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4814,A/0.5186;Gene=HEATR1/NM_018072.5/1;CC=c.2049+98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:24:0:0:12,13:399,414:38.12,0.00:29.70,0.00:8.41,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:81.2,10.6:0,0:0,0:24,58:114,92:19,33:NM_018072.5(HEATR1) c.2049+98C>T,-:0.54,-:NOT_FOUND,- 1 236749026 rs10925167 T A 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4912,A/0.5088;Gene=HEATR1/NM_018072.5/1;CC=c.2049+94A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:25:0:0:12,14:399,425:37.84,0.00:29.40,0.00:8.44,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:81.2,5.3:0,0:0,0:28,70:110,80:19,39:NM_018072.5(HEATR1) c.2049+94A>T,-:0.52,-:NOT_FOUND,- 1 236749242 . C . . NT END=236749540;NT GT ./. 1 236749348 rs2794764 C T 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4814,T/0.5186;Gene=HEATR1/NM_018072.5/1;CC=c.1928-107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:12:0:0:15,11:518,363:0.00,33.85:0.00,5.23:0.00,28.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,49.3:0,0:0,0:92,87:59,64:40,46:-,NM_018072.5(HEATR1) c.1928-107G>A:-,0.58:-,NOT_FOUND 1 236749433 rs2799421 A C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4814,C/0.5186;PC=0.010;Gene=HEATR1/NM_018072.5/1;CC=c.1927+108T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:8:0:0:9,12:243,405:0.00,40.05:0.00,16.87:0.00,23.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.6,52.4:0,0:0,0:117,82:34,68:6,39:-,NM_018072.5(HEATR1) c.1927+108T>G:-,0.58:-,NOT_FOUND 1 236749451 rs3831993 TA T 31 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=TA/0.3309,T/0.6691;NP=1679;Gene=HEATR1/NM_018072.5/1;CC=c.1927+89delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:19:9:0:10:9,10:290,319:0.00,30.96:0.00,16.06:0.00,14.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.6,49.1:0,0:0,0:132,93:18,58:9,26:-,NM_018072.5(HEATR1) c.1927+89delT:-,0.71:-,NOT_FOUND 1 236749649 rs2794763 T C 51 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.631,C/0.369;PC=1.000;Gene=HEATR1/NM_018072.5/1;CC=c.1819A>G;ProtCh=p.M607V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:26:0:0:16,19:536,568:50.80,0.00:33.27,0.00:17.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,4.3:0,0:0,0:55,72:95,79:36,31:NM_018072.5(HEATR1) c.1819A>G (p.Met607Val),-:0.44,-:0.456167,- 1 236749753 . C . . NT END=236750701;NT GT ./. 1 236749817 rs2799420 C T 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4814,T/0.5186;Gene=HEATR1/NM_018072.5/1;CC=c.1716-65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:8:0:0:14,12:466,387:0.00,36.64:0.00,12.81:0.00,23.83:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.8,35.1:0,0:0,0:118,106:32,44:21,36:-,NM_018072.5(HEATR1) c.1716-65G>A:-,0.58:-,NOT_FOUND 1 236750791 . C . . NT END=236751247;NT GT ./. 1 236751344 . C . . NT END=236754146;NT GT ./. 1 236751519 rs34200005 GA G 7 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GA/0.5717,G/0.4283;NP=720;PC=0.005;Gene=HEATR1/NM_018072.5/1;CC=c.1531-177delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:GA,G:9:0:0:3:6,3:187,85:0.00,7.45:0.00,0.00:0.00,7.45:0.00,0.64:0.00,0.00:0.00,0.64:60,60:3.0,7.0:0,0:0,0:115,87:36,64:21,48:-,NM_018072.5(HEATR1) c.1531-177delT:-,0.48:-,NOT_FOUND 1 236754255 . C . . NT END=236755292;NT GT ./. 1 236755170 rs2794760 G T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4423,T/0.5577;Gene=HEATR1/NM_018072.5/1;CC=c.1422+123C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,T:7:7:0:0:2,5:71,145:0.00,15.02:0.00,15.02:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,50.0:0,0:0,0:52,54:98,97:17,10:-,NM_018072.5(HEATR1) c.1422+123C>A:-,0.61:-,NOT_FOUND 1 236755411 . C . . NT END=236755822;NT GT ./. 1 236755427 rs2794759 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4405,G/0.5595;Gene=HEATR1/NM_018072.5/1;CC=c.1305-17T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:5:0:0:10,9:330,282:0.00,26.78:0.00,8.80:0.00,17.98:0.00,1.00:0.00,0.95:0.00,1.00:60,60:2.7,36.4:0,0:0,0:98,111:52,40:27,20:-,NM_018072.5(HEATR1) c.1305-17T>C:-,0.61:-,0.605676 1 236755814 rs2794757 G A 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4407,A/0.5593;Gene=HEATR1/NM_018072.5/1;CC=c.1304+9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:17:0:0:10,13:297,382:27.61,0.00:19.60,0.00:8.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.1,5.6:0,0:0,0:48,53:102,93:23,24:NM_018072.5(HEATR1) c.1304+9C>T,-:0.61,-:0.60122,- 1 236755837 rs2564739 C T 31 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4405,T/0.5595;PC=1.000;Gene=HEATR1/NM_018072.5/1;CC=c.1290G>A;ProtCh=p.R430=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:16:0:0:14,11:426,334:0.00,31.22:0.00,19.26:0.00,11.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,67.0:0,0:0,0:55,62:96,89:31,34:-,NM_018072.5(HEATR1) c.1290G>A (p.(=)):-,0.61:-,0.601728 1 236755934 . C . . NT END=236757311;NT GT ./. 1 236755937 rs67239913 TA T 21 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1587;PC=0.956;Gene=HEATR1/NM_018072.5/1;CC=c.1194-5delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:TA,I,T:23:12:4:7:12,4,7:393,117,231:0.00,9.58,20.93:0.00,7.25,10.94:0.00,2.33,9.99:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,0.99:60,60,60:11.7,10.5,17.7:0,0,0:0,0,0:79,88,94:71,59,49:19,8,13:-,NM_018072.5(HEATR1) c.1194-5delT:-,NOT_FOUND:-,NOT_FOUND 1 236756107 rs2853588 C T 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4495,T/0.5505;Gene=HEATR1/NM_018072.5/1;CC=c.1194-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:8:0:0:0:5,3:157,102:0.00,9.33:0.00,0.00:0.00,9.33:0.00,0.67:0.00,0.00:0.00,0.67:60,60:2.0,80.0:0,0:0,0:80,65:69,86:38,9:-,NM_018072.5(HEATR1) c.1194-174G>A:-,0.6:-,NOT_FOUND 1 236756152 rs2794756 A G 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4405,G/0.5595;Gene=HEATR1/NM_018072.5/1;CC=c.1194-219T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:0:0:0:3,2:98,70:0.00,6.49:0.00,0.00:0.00,6.49:0.00,0.46:0.00,0.00:0.00,0.46:60,60:3.3,103.5:0,0:0,0:98,105:52,45:16,4:-,NM_018072.5(HEATR1) c.1194-219T>C:-,0.61:-,NOT_FOUND 1 236757200 rs2564738 A G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4405,G/0.5595;PC=0.009;Gene=HEATR1/NM_018072.5/1;CC=c.1193+112T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:10:10:0:0:5,5:165,167:0.00,16.08:0.00,16.08:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:13.4,73.6:0,0:0,0:52,76:98,74:27,23:-,NM_018072.5(HEATR1) c.1193+112T>C:-,0.61:-,NOT_FOUND 1 236757229 rs2794754 G A 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4405,A/0.5595;Gene=HEATR1/NM_018072.5/1;CC=c.1193+83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:A,G:12:12:0:0:6,6:182,174:17.45,0.00:17.60,0.00:-0.15,0.00:0.98,0.00:0.98,0.00:0.67,0.00:60,60:60.3,11.2:0,0:0,0:70,67:80,83:39,29:NM_018072.5(HEATR1) c.1193+83C>T,-:0.61,-:NOT_FOUND,- 1 236757415 . C . . NT END=236758839;NT GT ./. 1 236757507 rs2794753 A G 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5667,G/0.4333;PC=0.008;Gene=HEATR1/NM_018072.5/1;CC=c.1091-93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,G:11:0:0:0:5,6:164,203:0.00,19.87:0.00,0.00:0.00,19.87:0.00,0.98:0.00,0.00:0.00,0.98:60,60:3.8,33.8:0,0:0,0:124,96:27,55:21,31:-,NM_018072.5(HEATR1) c.1091-93T>C:-,0.49:-,NOT_FOUND 1 236758887 rs2794751 T C 42 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.4405,C/0.5595;PC=0.049;Gene=HEATR1/NM_018072.5/1;CC=c.1043A>G;ProtCh=p.H348R;VC=Missense;DM=HEATR1/U3snoRNP10;DM=HEATR1/U3snoRNP10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:23:0:0:15,26:467,810:42.17,0.00:21.74,0.00:20.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,7.0:0,0:0,0:108,107:42,43:27,26:NM_018072.5(HEATR1) c.1043A>G (p.His348Arg),-:0.61,-:0.605567,- 1 236758974 . C . . NT END=236759132;NT GT ./. 1 236759060 rs2794750 T C 58 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4495,C/0.5505;PC=0.004;Gene=HEATR1/NM_018072.5/1;CC=c.956+73A>G;VC=Intron;DM=HEATR1/U3snoRNP10;DM=HEATR1/U3snoRNP10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:21:0:0:18,14:593,434:58.33,0.00:27.42,0.00:30.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,6.5:1,0:0,0:105,51:45,99:22,39:NM_018072.5(HEATR1) c.956+73A>G,-:0.61,-:NOT_FOUND,- 1 236759345 . C . . NT END=236760135;NT GT ./. 1 236759964 rs2758163 G T 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2859,T/0.7141;PC=0.002;Gene=HEATR1/NM_018072.5/1;CC=c.744+172C>A;VC=Intron;DM=HEATR1/U3snoRNP10;DM=HEATR1/U3snoRNP10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,G,T:13:13:0:0:1,8,4:11,197,129:0.28,0.00,11.50:0.28,0.00,11.50:0.00,0.00,0.00:0.00,0.00,0.79:0.00,0.00,0.79:0.00,0.00,0.00:60,60,60:11.0,41.2,32.2:0,0,0:0,0,0:118,80,52:33,70,99:0,31,11:-,NM_018072.5(HEATR1) c.744+172C>A:-,0.75:-,NOT_FOUND 1 236760277 . C . . NT END=236761177;NT GT ./. 1 236760368 rs2564737 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5641,C/0.4359;Gene=HEATR1/NM_018072.5/1;CC=c.604-92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:2:0:0:8,11:208,345:18.87,0.00:5.40,0.00:13.46,0.00:0.99,0.00:0.72,0.00:1.00,0.00:60,60:63.5,4.5:0,0:0,0:107,89:44,62:18,33:NM_018072.5(HEATR1) c.604-92A>G,-:0.5,-:NOT_FOUND,- 1 236761280 . C . . NT END=236762782;NT GT ./. 1 236762925 . C . . NT END=236766459;NT GT ./. 1 236763031 rs477226 C T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.9451,T/0.05491;PC=0.001;Gene=HEATR1/NM_018072.5/1;CC=c.360-107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:5:0:0:13,13:361,391:0.00,37.48:0.00,2.49:0.00,34.99:0.00,1.00:0.00,0.96:0.00,1.00:60,60:4.5,41.7:0,0:0,0:107,115:44,35:30,28:-,NM_018072.5(HEATR1) c.360-107G>A:-,0.07:-,NOT_FOUND 1 236766677 . C . . NT END=236767253;NT GT ./. 1 236767072 rs1529540 A G 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4211,G/0.5789;PC=0.001;Gene=HEATR1/NM_018072.5/1;CC=c.142+182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:15:0:0:7,9:230,259:0.00,25.40:0.00,23.89:0.00,1.51:0.00,1.00:0.00,1.00:0.00,0.71:60,60:3.4,75.3:0,0:0,0:32,70:118,80:29,36:-,NM_018072.5(HEATR1) c.142+182T>C:-,0.63:-,NOT_FOUND 1 236767176 rs1529541 C G 68 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.5715,G/0.4285;PC=0.005;Gene=HEATR1/NM_018072.5/1;CC=c.142+78G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:34:33:0:0:13,21:437,679:0.00,68.06:0.00,61.35:0.00,6.71:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.8,51.3:0,19:0,0:29,41:121,107:20,19:-,NM_018072.5(HEATR1) c.142+78G>C:-,NOT_FOUND:-,NOT_FOUND 1 236767178 rs5781902 AG A 56 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=AG/0.4453,A/0.5547;DB;DBA=NA;PAF=AG/0.4453,A/0.5547;NP=2163;PC=0.004;Gene=HEATR1/NM_018072.5/1;CC=c.142+75delC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:35:33:0:19:16,19:500,570:0.00,55.58:0.00,49.64:0.00,5.93:0.00,1.00:0.00,1.00:0.00,0.99:60,60:14.4,48.8:2,0:0,0:27,43:122,105:21,19:-,NM_018072.5(HEATR1) c.142+75delC:-,NOT_FOUND:-,NOT_FOUND 1 236767182 rs6650089 G A 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=HEATR1/NM_018072.5/1;CC=c.142+72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:32:A,G,T,I:37:34:2:0:4,30,1,2:104,960,9,66:7.00,0.00,-0.17,4.30:6.44,0.00,-0.12,4.39:0.56,0.00,-0.05,-0.10:0.60,0.00,0.00,0.00:0.93,0.00,0.00,0.00:0.52,0.00,0.00,0.00:60,60,60,60:80.8,33.1,80.0,0.0:0,17,1,0:0,0,0,0:6,44,68,27:144,105,81,123:5,19,0,1:NM_018072.5(HEATR1) c.142+72C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 236767330 rs10802551 A G 219 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.4167,G/0.5833;Gene=HEATR1/NM_018072.5/1;CC=c.66T>C;ProtCh=p.S22=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:103:76:0:0:36,67:1165,2156:0.00,218.50:0.00,110.83:0.00,107.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,38.9:0,0:0,0:69,71:79,80:24,40:-,NM_018072.5(HEATR1) c.66T>C (p.(=)):-,0.63:-,0.601338 1 236767396 . C . . NT END=236849973;NT GT ./. 1 236785046 rs1652211 T A,C 19 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.06829,C/0.9317 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:19:A,C:6:5:0:0:1,5:28,173:2.50,19.29:1.25,11.39:1.25,7.90:0.00,0.99:0.00,1.00:0.00,1.00:60,60:60.0,50.0:0,0:0,0:1,72:121,46:0,22:chr1 g.236785045T>A (intergenic),chr1 g.236785045T>C (intergenic):NOT_FOUND,0.95:NOT_FOUND,NOT_FOUND 1 236785070 rs147876113 CGCGCGT C 19 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CGCGCGT/0.1148,C/0.8852;DB;DBA=NA;PAF=CGCGCGT/0.1148,C/0.8852;NP=627;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:5:5:163:18.68:7.40:11.28:1.00:1.00:1.00:60:51.0:0:0:74:55:22:chr1 g.236785071_236785076delGCGCGT (intergenic),chr1 g.236785071_236785076delGCGCGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 236785093 rs1773420 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.06869,T/0.9313;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:148:17.16:5.77:11.39:1.00:1.00:1.00:60:55.0:0:0:91:38:22:chr1 g.236785092C>T (intergenic),chr1 g.236785092C>T (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 1 236850100 . G . . NT END=236881157;NT GT ./. 1 236856477 rs891338 G GCACACA 7 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;NP=8;Gene=ACTN2/NM_001103.3/1;CC=c.126+6416_126+6417insCACACA;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.126+6416_126+6417insCACACA;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-696+6416_-696+6417insCACACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:2:G,T,GCACACA,D:5:4:3:1:1,1,2,1:36,34,103,34:0.00,3.02,6.82,3.02:0.00,3.10,7.00,3.10:0.00,-0.08,-0.18,-0.08:0.00,0.00,0.42,0.00:0.00,0.00,0.81,0.00:0.00,0.00,0.63,0.00:60,60,60,60:44.0,165.0,12.0,0.0:0,0,1,0:0,0,0,0:103,122,70,96:39,29,81,54:0,0,4,0:-,NM_001103.2(ACTN2) c.126+6378_126+6379insCACACA:-,NOT_FOUND:-,NOT_FOUND 1 236881273 . G . . NT END=236882193;NT GT ./. 1 236882110 rs1341865 G A 179 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.007388,A/0.9926;NP=3460;Gene=ACTN2/NM_001103.3/1;CC=c.242-84G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.242-84G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-580-84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:46:0:0:50:1557:179.38:147.45:31.93:1.00:1.00:1.00:60:41.6:0:0:46:100:28:NM_001103.2(ACTN2) c.242-84G>A,NM_001103.2(ACTN2) c.242-84G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 236882303 rs1341864 T C 351 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=T/0.007388,C/0.9926;NP=3469;PC=0.489;Gene=ACTN2/NM_001103.3/1;CC=c.351T>C;ProtCh=p.I117=;VC=Silent;Gene=ACTN2/NM_001278343.1/0;CC=c.351T>C;ProtCh=p.I117=;VC=Silent;Gene=ACTN2/NM_001278344.1/0;CC=c.-471T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:53:0:0:96:3051:350.66:135.13:215.53:1.00:1.00:1.00:60:35.5:0:0:89:55:26:NM_001103.2(ACTN2) c.=,NM_001103.2(ACTN2) c.=:0.99,0.99:0.992234,0.992234 1 236882314 . G . . NT END=236883404;NT GT ./. 1 236882450 rs115748872 C T 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.998,T/0.001997;NP=13;Gene=ACTN2/NM_001103.3/1;CC=c.361+137C>T;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.361+137C>T;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-461+137C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:0:0:0:11,14:286,464:0.00,45.69:0.00,0.00:0.00,45.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.6,44.9:0,0:0,0:95,113:56,37:19,16:-,NM_001103.2(ACTN2) c.361+137C>T:-,0.0032:-,NOT_FOUND 1 236883161 rs1773444 A G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1066,G/0.8934;PC=0.001;Gene=ACTN2/NM_001103.3/1;CC=c.362-244A>G;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.362-244A>G;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-460-244A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:99:11.68:11.68:0.00:1.00:1.00:0.00:60:59.0:0:0:39:110:27:NM_001103.2(ACTN2) c.362-244A>G,NM_001103.2(ACTN2) c.362-244A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 236883240 rs1768053 T C 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.007987,C/0.992;NP=1529;Gene=ACTN2/NM_001103.3/1;CC=c.362-165T>C;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.362-165T>C;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-460-165T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:365:42.19:42.19:0.00:1.00:1.00:0.00:60:41.2:0:0:57:93:15:NM_001103.2(ACTN2) c.362-165T>C,NM_001103.2(ACTN2) c.362-165T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 236883421 rs1341863 C T 206 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=in-clinvar;PAF=C/0.07927,T/0.9207;PC=0.437;Gene=ACTN2/NM_001103.3/1;CC=c.378C>T;ProtCh=p.N126=;VC=Silent;Gene=ACTN2/NM_001278343.1/0;CC=c.378C>T;ProtCh=p.N126=;VC=Silent;Gene=ACTN2/NM_001278344.1/0;CC=c.-444C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:T:57:39:0:0:57:1793:206.38:109.93:96.45:1.00:1.00:1.00:60:41.1:0:0:66:85:23:NM_001103.2(ACTN2) c.=,NM_001103.2(ACTN2) c.=:0.94,0.94:0.937721,0.937721 1 236883492 . G . . NT END=236889232;NT GT ./. 1 236883564 rs1341862 G A 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.07768,A/0.9223;Gene=ACTN2/NM_001103.3/1;CC=c.448+73G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.448+73G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-374+73G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:7:0:0:25:795:91.38:16.84:74.54:1.00:1.00:1.00:60:40.7:0:0:98:52:29:NM_001103.2(ACTN2) c.448+73G>A,NM_001103.2(ACTN2) c.448+73G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 236883686 rs1341861 G T 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1254,T/0.8746;PC=0.003;Gene=ACTN2/NM_001103.3/1;CC=c.448+195G>T;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.448+195G>T;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-374+195G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:365:41.74:0.00:41.74:1.00:0.00:1.00:60:43.2:0:0:109:42:22:NM_001103.2(ACTN2) c.448+195G>T,NM_001103.2(ACTN2) c.448+195G>T:0.9,0.9:NOT_FOUND,NOT_FOUND 1 236889321 . G . . NT END=236890977;NT GT ./. 1 236890781 rs1768056 A G 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.04832,G/0.9517;Gene=ACTN2/NM_001103.3/1;CC=c.537-197A>G;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.537-197A>G;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-285-197A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:294:34.61:34.61:0.00:1.00:1.00:0.00:60:42.2:0:0:59:92:17:NM_001103.2(ACTN2) c.537-197A>G,NM_001103.2(ACTN2) c.537-197A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 236891057 . G . . NT END=236894532;NT GT ./. 1 236891261 rs12136869 G A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9814,A/0.01857;Gene=ACTN2/NM_001103.3/1;CC=c.615+205G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.615+205G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-207+205G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:10:0:0:0:6,4:194,126:19.34,0.00:0.00,0.00:19.34,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:32.3,10.8:0,0:0,0:122,132:29,17:19,11:NM_001103.2(ACTN2) c.615+205G>A,-:0.03,-:NOT_FOUND,- 1 236894615 . G . . NT END=236897732;NT GT ./. 1 236894647 rs819640 G A 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.5084,A/0.4916;Gene=ACTN2/NM_001103.3/1;CC=c.697+33G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.697+33G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-125+33G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:15:0:0:18,15:584,488:57.11,0.00:12.30,0.00:44.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,9.1:0,0:0,0:97,112:54,39:28,29:NM_001103.2(ACTN2) c.697+33G>A,-:0.46,-:0.398047,- 1 236897633 rs707203 A G 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=190;Gene=ACTN2/NM_001103.3/1;CC=c.698-1302A>G;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.698-100A>G;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-124-100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:17:0:0:17:559:64.00:60.03:3.98:1.00:1.00:1.00:60:36.6:0:0:30:121:21:NM_001103.2(ACTN2) c.698-1302A>G,NM_001103.2(ACTN2) c.698-1302A>G:1,1:NOT_FOUND,NOT_FOUND 1 236897819 . G . . NT END=236898934;NT GT ./. 1 236898035 rs819643 T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.03794,C/0.9621;Gene=ACTN2/NM_001103.3/1;CC=c.698-900T>C;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.783+217T>C;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.-39+217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:140:15.91:0.00:15.91:1.00:0.00:1.00:60:38.2:0:0:109:41:13:NM_001103.2(ACTN2) c.698-900T>C,NM_001103.2(ACTN2) c.698-900T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 236899021 . G . . NT END=236899857;NT GT ./. 1 236899042 rs2288600 G A 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8041,A/0.1959;Gene=ACTN2/NM_001103.3/1;CC=c.783+22G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.783+1224G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.48+22G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:19:0:0:12,21:400,622:36.34,0.00:15.78,0.00:20.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,11.7:0,0:0,0:69,88:76,63:13,52:NM_001103.2(ACTN2) c.783+22G>A,-:0.19,-:0.15662,- 1 236899899 rs397983372 TC T 49 PASS VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=TC/0.4718,T/0.5282;DB;DBA=NA;PAF=TC/0.4718,T/0.5282;NP=97;PC=0.002;Gene=ACTN2/NM_001103.3/1;CC=c.784-518delC;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.784-518delC;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.95delC;ProtCh=p.P32Lfs*12;VC=FrameShiftDel;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:39:29:0:17:22,17:725,525:0.00,49.00:0.00,20.24:0.00,28.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,7.8:0,0:0,0:63,89:62,60:33,26:-,NM_001103.2(ACTN2) c.784-522delC:-,0.56:-,NOT_FOUND 1 236899969 . G . . NT END=236900421;NT GT ./. 1 236900018 rs7542508 G A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6406,A/0.3594;PC=0.044;Gene=ACTN2/NM_001103.3/1;CC=c.784-404G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.784-404G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.159+50G>A;VC=Intron;DM=ACTN2/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:17:5:0:0:5,12:136,404:11.51,0.00:3.86,0.00:7.65,0.00:0.88,0.00:0.81,0.00:0.99,0.00:60,60:36.8,2.5:0,0:0,0:50,124:101,22:14,18:NM_001103.2(ACTN2) c.784-404G>A,-:0.41,-:NOT_FOUND,- 1 236900515 . G . . NT END=236902601;NT GT ./. 1 236900597 rs372674400 G GTATATAT 7 idl,nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.081;Gene=ACTN2/NM_001103.3/1;CC=c.876+83_876+84insTATATAT;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.876+83_876+84insTATATAT;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.252+83_252+84insTATATAT;VC=Intron;DM=ACTN2/CH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:G,GTATATAT:11:4:8:0:8,3:236,245:0.00,7.33:0.00,2.13:0.00,5.20:0.00,0.54:0.00,0.57:0.00,0.88:60,70:12.0,58.3:2,5:0,0:125,140:19,8:24,6:-,NM_001103.2(ACTN2) c.876+83_876+84insTATATAT:-,NOT_FOUND:-,NOT_FOUND 1 236900598 rs7521191 C T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4681,T/0.5319;PC=0.081;Gene=ACTN2/NM_001103.3/1;CC=c.876+84C>T;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.876+84C>T;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.252+84C>T;VC=Intron;DM=ACTN2/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,T,D:10:3:0:1:6,3,1:154,99,32:0.00,8.85,2.41:0.00,-0.37,-0.11:0.00,9.22,2.52:0.00,0.62,0.00:0.00,0.69,0.00:0.00,0.92,0.00:60,60,60:13.2,45.0,17.0:0,0,0:0,0,0:139,85,81:5,64,70:9,2,0:-,NM_001103.2(ACTN2) c.876+84C>T:-,NOT_FOUND:-,NOT_FOUND 1 236902532 . AT A 15 rn VT=DEL;SST=Single;DP=56;NP=76;PC=0.016;Gene=ACTN2/NM_001103.3/1;CC=c.877-58delT;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.877-58delT;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.253-58delT;VC=Intron;DM=ACTN2/CH;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:AT,I,A:56:53:1:7:48,1,7:1513,29,212:0.00,1.26,15.45:0.00,1.31,11.33:0.00,-0.05,4.11:0.00,0.00,0.91:0.00,0.00,0.99:0.00,0.00,0.72:60,60,60:28.6,42.0,19.0:0,0,0:0,0,0:50,51,117:100,100,34:42,0,8:-,NM_001103.2(ACTN2) c.877-69delT:-,NOT_FOUND:-,NOT_FOUND 1 236902560 rs7527525 C T 84 nt VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;Gene=ACTN2/NM_001103.3/1;CC=c.877-42C>T;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.877-42C>T;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.253-42C>T;VC=Intron;DM=ACTN2/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:71:0:0:45,34:1390,916:0.00,84.32:0.00,64.58:0.00,19.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,62.5:0,0:0,0:41,21:107,125:26,8:-,NM_001103.2(ACTN2) c.877-42C>T:-,0.45:-,0.479775 1 236902594 rs2288601 C G 127 nt VT=SNV;PN=G;NN=G;SST=Single;DP=105;DB;DBA=in-clinvar;PAF=C/0.2324,G/0.7676,T/.;PC=0.999;Gene=ACTN2/NM_001103.3/1;CC=c.877-8C>G;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.877-8C>G;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.253-8C>G;VC=Intron;DM=ACTN2/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:105:88:0:0:61,44:1869,1366:0.00,126.58:0.00,84.07:0.00,42.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,56.4:0,0:0,0:42,48:105,103:24,19:-,NM_001103.2(ACTN2) c.877-8C>G:-,0.76:-,0.777487 1 236902833 . G . . NT END=236906195;NT GT ./. 1 236902865 rs2288602 A C 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.5773,C/0.4227;PC=0.001;Gene=ACTN2/NM_001103.3/1;CC=c.1107+33A>C;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1107+33A>C;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.483+33A>C;VC=Intron;DM=ACTN2/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:103:33:0:0:55,48:1741,1426:0.00,134.42:0.00,32.00:0.00,102.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,42.4:0,0:0,0:103,106:48,44:27,27:-,NM_001103.2(ACTN2) c.1107+33A>C:-,0.47:-,0.500154 1 236902955 rs7544174 T C 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.5793,C/0.4207;Gene=ACTN2/NM_001103.3/1;CC=c.1107+123T>C;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1107+123T>C;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.483+123T>C;VC=Intron;DM=ACTN2/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:0:0:0:14,24:437,755:39.51,0.00:0.00,0.00:39.51,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:65.9,13.9:0,0:0,0:119,92:32,58:21,42:NM_001103.2(ACTN2) c.1107+123T>C,-:0.46,-:NOT_FOUND,- 1 236906344 . G . . NT END=236907925;NT GT ./. 1 236908077 . G . . NT END=236910966;NT GT ./. 1 236910863 rs10802557 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6721,C/0.3279;PC=0.408;Gene=ACTN2/NM_001103.3/1;CC=c.1407-104T>C;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1407-104T>C;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.783-104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:7,11:237,343:21.83,0.00:21.83,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:53.9,3.2:0,0:0,0:61,55:90,96:37,35:NM_001103.2(ACTN2) c.1407-104T>C,-:0.32,-:NOT_FOUND,- 1 236911076 . G . . NT END=236912423;NT GT ./. 1 236912219 rs3818884 G T 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.2246,C/.,T/0.7754;Gene=ACTN2/NM_001103.3/1;CC=c.1516-205G>T;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1516-205G>T;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.892-205G>T;VC=Intron;DM=ACTN2/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:17:0:0:17:524:60.48:60.48:0.00:1.00:1.00:0.00:60:66.0:0:0:40:104:23:NM_001103.2(ACTN2) c.1516-205G>T,NM_001103.2(ACTN2) c.1516-205G>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 236912286 rs2297956 G A 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.08367,A/0.9163;Gene=ACTN2/NM_001103.3/1;CC=c.1516-138G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1516-138G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.892-138G>A;VC=Intron;DM=ACTN2/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:26:0:0:26:791:91.37:91.37:0.00:1.00:1.00:0.00:60:62.7:0:0:70:80:35:NM_001103.2(ACTN2) c.1516-138G>A,NM_001103.2(ACTN2) c.1516-138G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 236912565 . G . . NT END=236914769;NT GT ./. 1 236912839 rs4659712 A G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5705,G/0.4295;PC=0.004;Gene=ACTN2/NM_001103.3/1;CC=c.1656+275A>G;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1656+275A>G;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.1032+275A>G;VC=Intron;DM=ACTN2/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:10:0:0:0:2,8:42,275:0.00,29.24:0.00,0.00:0.00,29.24:0.00,1.00:0.00,0.00:0.00,1.00:60,60:108.5,35.9:0,0:0,0:67,96:83,54:11,9:-,NM_001103.2(ACTN2) c.1656+275A>G:-,0.45:-,NOT_FOUND 1 236914576 rs3738544 C T 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4145,T/0.5855;Gene=ACTN2/NM_001103.3/1;CC=c.1657-194C>T;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1657-194C>T;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.1033-194C>T;VC=Intron;DM=ACTN2/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:313:36.06:36.06:0.00:1.00:1.00:0.00:60:71.8:0:0:27:123:19:NM_001103.2(ACTN2) c.1657-194C>T,NM_001103.2(ACTN2) c.1657-194C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 1 236914610 rs3738545 G C 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4133,C/0.5867;Gene=ACTN2/NM_001103.3/1;CC=c.1657-160G>C;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1657-160G>C;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.1033-160G>C;VC=Intron;DM=ACTN2/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:545:62.13:62.13:0.00:1.00:1.00:0.00:60:58.4:0:0:41:109:24:NM_001103.2(ACTN2) c.1657-160G>C,NM_001103.2(ACTN2) c.1657-160G>C:0.62,0.62:NOT_FOUND,NOT_FOUND 1 236914953 . G . . NT END=236917246;NT GT ./. 1 236915207 rs4659713 G A 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2216,A/0.7784;Gene=ACTN2/NM_001103.3/1;CC=c.1839+255G>A;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.1839+255G>A;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.1215+255G>A;VC=Intron;DM=ACTN2/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:222:25.94:0.00:25.94:1.00:0.00:1.00:60:37.4:0:0:99:51:15:NM_001103.2(ACTN2) c.1839+255G>A,NM_001103.2(ACTN2) c.1839+255G>A:0.78,0.78:NOT_FOUND,NOT_FOUND 1 236917382 . G . . NT END=236918318;NT GT ./. 1 236918499 . G . . NT END=236920785;NT GT ./. 1 236920933 . G . . NT END=236923023;NT GT ./. 1 236923090 . G . . NT END=236924314;NT GT ./. 1 236923299 rs10925223 A G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5895,G/0.4105;PC=0.009;Gene=ACTN2/NM_001103.3/1;CC=c.2367+210A>G;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.2367+210A>G;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.1743+210A>G;VC=Intron;DM=ACTN2/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,G:7:0:0:0:2,5:41,179:0.00,18.51:0.00,0.00:0.00,18.51:0.00,0.98:0.00,0.00:0.00,0.98:60,60:28.5,42.0:0,0:0,0:117,83:34,67:25,10:-,NM_001103.2(ACTN2) c.2367+210A>G:-,0.44:-,NOT_FOUND 1 236924474 . G . . NT END=236925760;NT GT ./. 1 236924506 rs2282366 A G 296 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.2019,G/0.7981;Gene=ACTN2/NM_001103.3/1;CC=c.2526+33A>G;VC=Intron;Gene=ACTN2/NM_001278343.1/0;CC=c.2526+33A>G;VC=Intron;Gene=ACTN2/NM_001278344.1/0;CC=c.1902+33A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:24:0:0:84:2567:296.34:47.76:248.57:1.00:1.00:1.00:60:36.0:0:0:88:62:25:NM_001103.2(ACTN2) c.2526+33A>G,NM_001103.2(ACTN2) c.2526+33A>G:0.82,0.82:0.86091,0.86091 1 236925844 rs12063382 G A 130 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=in-clinvar;PAF=G/0.8039,A/0.1961;Gene=ACTN2/NM_001103.3/1;CC=c.2610G>A;ProtCh=p.S870=;VC=Silent;Gene=ACTN2/NM_001278343.1/0;CC=c.2610G>A;ProtCh=p.S870=;VC=Silent;Gene=ACTN2/NM_001278344.1/0;CC=c.1986G>A;ProtCh=p.S662=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:103:65:0:0:42,60,1:1401,1833,13:130.12,0.00,-0.07:58.53,0.00,0.07:71.59,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,9.2,13.0:0,0,0:0,0,0:91,80,115:58,56,36:31,40,0:NM_001103.2(ACTN2) c.2610G>A (p.(=)),-:0.21,-:0.155697,- 1 236925920 . T . . NT END=236958620;NT GT ./. 1 236926030 rs1051251 A G 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6502,G/0.3498;PC=0.011;Gene=ACTN2/NM_001103.3/1;CC=c.*111A>G;VC=3UTR;Gene=ACTN2/NM_001278343.1/0;CC=c.*111A>G;VC=3UTR;Gene=ACTN2/NM_001278344.1/0;CC=c.*111A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:3:0:1:13,15:423,505:0.00,49.26:0.00,3.17:0.00,46.09:0.00,1.00:0.00,0.91:0.00,1.00:60,60:14.6,39.7:1,0:0,0:112,130:35,21:13,13:-,NM_001103.2(ACTN2) c.*111A>G:-,0.43:-,NOT_FOUND 1 236959038 . G . . NT END=236963357;NT GT ./. 1 236963778 . G . . NT END=236966727;NT GT ./. 1 236966943 . G . . NT END=236969443;NT GT ./. 1 236969534 . G . . NT END=236972003;NT GT ./. 1 236972074 . G . . NT END=236973802;NT GT ./. 1 236972186 rs12759827 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9054,G/0.09465;Gene=MTR/NM_000254.2/1;CC=c.409+113A>G;VC=Intron;Gene=MTR/NM_001291939.1/0;CC=c.409+113A>G;VC=Intron;Gene=MTR/NM_001291940.1/0;CC=c.-700+113A>G;VC=Intron;DM=MTR/S-methyl_trans;DM=MTR/Pterin_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:A,G:14:1:0:0:9,5:280,155:0.00,13.92:0.00,2.03:0.00,11.89:0.00,0.90:0.00,0.57:0.00,0.99:60,60:2.7,31.0:0,0:0,0:84,137:67,13:34,13:-,NM_000254.2(MTR) c.409+113A>G:-,0.14:-,NOT_FOUND 1 236973896 . G . . NT END=236976037;NT GT ./. 1 236976145 . G . . NT END=236978903;NT GT ./. 1 236978964 . G . . NT END=236979748;NT GT ./. 1 236979844 . G . . NT END=236987418;NT GT ./. 1 236987520 . G . . NT END=236988637;NT GT ./. 1 236988700 . G . . NT END=236990128;NT GT ./. 1 236990197 . G . . NT END=236992488;NT GT ./. 1 236992569 . G . . NT END=236995265;NT GT ./. 1 236995379 . G . . NT END=236998846;NT GT ./. 1 236998988 . G . . NT END=237001713;NT GT ./. 1 237001900 . G . . NT END=237013640;NT GT ./. 1 237013824 . G . . NT END=237015820;NT GT ./. 1 237015938 . G . . NT END=237016247;NT GT ./. 1 237016389 . G . . NT END=237023132;NT GT ./. 1 237023223 . G . . NT END=237024424;NT GT ./. 1 237024397 rs397974349 C CT 8 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=3;NP=31;PC=0.001;Gene=MTR/NM_000254.2/1;CC=c.2044-12_2044-11insT;VC=Intron;Gene=MTR/NM_001291939.1/0;CC=c.2044-1123_2044-1122insT;VC=Intron;Gene=MTR/NM_001291940.1/0;CC=c.823-12_823-11insT;VC=Intron;DM=MTR/Met_synt_B12;DM=MTR/B12-binding_2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C,T,CT,D:22:20:3:4:1,16,1,3,1:9,475,28,99,99:-0.03,0.00,1.61,7.70,2.20:0.06,0.00,1.70,6.55,1.00:-0.09,0.00,-0.09,1.15,1.21:0.00,0.00,0.00,0.47,0.00:0.00,0.00,0.00,0.86,0.00:0.00,0.00,0.00,0.67,0.00:60,60,60,60,60:56.0,41.0,44.0,81.0,75.0:0,0,0,0,2:0,0,0,0,0:132,45,101,59,21:11,89,17,92,124:0,29,0,7,9:-,NM_000254.2(MTR) c.2044-28_2044-27insT:-,NOT_FOUND:-,NOT_FOUND 1 237024578 . G . . NT END=237025535;NT GT ./. 1 237025644 . G . . NT END=237026753;NT GT ./. 1 237026855 . G . . NT END=237037072;NT GT ./. 1 237037141 . G . . NT END=237038025;NT GT ./. 1 237037853 rs2712831 C A 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=230;Gene=MTR/NM_000254.2/1;CC=c.2474-173C>A;VC=Intron;Gene=MTR/NM_001291939.1/0;CC=c.2321-173C>A;VC=Intron;Gene=MTR/NM_001291940.1/0;CC=c.1253-173C>A;VC=Intron;DM=MTR/B12-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:17:0:0:17:556:63.71:63.71:0.00:1.00:1.00:0.00:60:67.6:0:0:46:105:17:NM_000254.2(MTR) c.2474-173C>A,NM_000254.2(MTR) c.2474-173C>A:1,1:NOT_FOUND,NOT_FOUND 1 237037870 . CA C 11 idl,rn VT=DEL;SST=Single;DP=18;Gene=MTR/NM_000254.2/1;CC=c.2474-141delA;VC=Intron;Gene=MTR/NM_001291939.1/0;CC=c.2321-141delA;VC=Intron;Gene=MTR/NM_001291940.1/0;CC=c.1253-141delA;VC=Intron;DM=MTR/B12-binding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CA,I,C:17:18:2:5:11,2,4:360,66,162:0.00,5.08,10.90:0.00,5.08,10.90:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:62.4,30.5,96.0:0,0,1:0,0,0:63,37,46:88,113,105:17,23,28:-,NM_000254.2(MTR) c.2474-155delA:-,NOT_FOUND:-,NOT_FOUND 1 237038008 rs546254033 T TA 7 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=882;Gene=MTR/NM_000254.2/1;CC=c.2474-4_2474-3insA;VC=Intron;Gene=MTR/NM_001291939.1/0;CC=c.2321-4_2321-3insA;VC=Intron;Gene=MTR/NM_001291940.1/0;CC=c.1253-4_1253-3insA;VC=Intron;DM=MTR/B12-binding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:T,TA,D:35:27:4:3:29,3,3:895,118,92:0.00,6.50,6.30:0.00,3.05,5.45:0.00,3.45,0.85:0.00,0.39,0.00:0.00,0.79,0.00:0.00,0.64,0.00:60,60,60:29.4,33.3,3.3:0,1,0:0,0,0:66,70,58:80,78,93:31,25,46:-,NM_000254.2(MTR) c.2474-18_2474-17insA:-,NOT_FOUND:-,NOT_FOUND 1 237038147 . G . . NT END=237044054;NT GT ./. 1 237038161 rs1770449 T C 207 nt VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.7678,C/0.2322;Gene=MTR/NM_000254.2/1;CC=c.2594+15T>C;VC=Intron;Gene=MTR/NM_001291939.1/0;CC=c.2441+15T>C;VC=Intron;Gene=MTR/NM_001291940.1/0;CC=c.1373+15T>C;VC=Intron;DM=MTR/B12-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:C:59:30:0:0:59:1788:206.63:79.33:127.30:1.00:1.00:1.00:60:37.3:0:0:100:44:32:NM_000254.2(MTR) c.2594+15T>C,NM_000254.2(MTR) c.2594+15T>C:0.26,0.26:0.266646,0.266646 1 237044137 . G . . NT END=237048420;NT GT ./. 1 237048520 . G . . NT END=237049591;NT GT ./. 1 237049668 . G . . NT END=237052480;NT GT ./. 1 237052637 . G . . NT END=237054432;NT GT ./. 1 237054504 rs116836001 C T 153 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.9984,G/.,T/0.001597;NP=28;PC=0.003;Gene=MTR/NM_000254.2/1;CC=c.3079C>T;ProtCh=p.R1027W;VC=Missense;Gene=MTR/NM_001291939.1/0;CC=c.2926C>T;ProtCh=p.R976W;VC=Missense;Gene=MTR/NM_001291940.1/0;CC=c.1858C>T;ProtCh=p.R620W;VC=Missense;DM=MTR/Met_synt_B12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:99:75:0:0:51,48:1586,1598:0.00,152.91:0.00,90.94:0.00,61.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,38.4:0,0:0,0:78,81:67,69:30,31:-,NM_000254.2(MTR) c.3079C>T (p.Arg1027Trp):-,0.0023:-,0.002845 1 237054630 . G . . NT END=237057656;NT GT ./. 1 237057858 . G . . NT END=237058657;NT GT ./. 1 237057958 rs377058421 C CT 15 idl,rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=MTR/NM_000254.2/1;CC=c.3405+116dupT;VC=Intron;Gene=MTR/NM_001291939.1/0;CC=c.3252+116dupT;VC=Intron;Gene=MTR/NM_001291940.1/0;CC=c.2184+116dupT;VC=Intron;DM=MTR/Met_synt_B12;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T,CT,D:44:2:7:5:32,1,7,4:937,11,195,147:0.00,-0.07,14.86,7.73:0.00,-0.01,-0.11,-0.06:0.00,-0.05,14.97,7.79:0.00,0.00,0.93,0.00:0.00,0.00,0.41,0.00:0.00,0.00,1.00,0.00:60,60,70,60:19.0,41.0,19.0,45.5:0,0,0,1:0,0,0,0:91,36,90,84:60,96,61,66:38,0,29,8:-,NM_000254.2(MTR) c.3405+101_3405+102insT:-,NOT_FOUND:-,NOT_FOUND 1 237058851 . G . . NT END=237060305;NT GT ./. 1 237060419 . G . . NT END=237060857;NT GT ./. 1 237060945 . C . . NT END=237167486;NT GT ./. 1 237060945 rs67705775 CT C 15 rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=24;PC=0.917;Gene=MTR/NM_000254.2/1;CC=c.*16delT;VC=3UTR;Gene=MTR/NM_001291939.1/0;CC=c.*16delT;VC=3UTR;Gene=MTR/NM_001291940.1/0;CC=c.*16delT;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:CT,I,C:37:19:2:6:29,2,6:939,61,196:0.00,3.83,15.50:0.00,4.31,6.78:0.00,-0.48,8.72:0.00,0.00,0.88:0.00,0.00,0.92:0.00,0.00,0.98:60,60,60:11.0,30.0,9.5:0,0,0:0,0,0:124,92,97:24,46,45:14,3,7:-,NM_000254.2(MTR) c.*2T[14]:-,NOT_FOUND:-,NOT_FOUND 1 237105742 rs11808010 A G 10 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,G,T:5:0:0:0:1,3,1:34,100,12:0.00,10.37,0.89:0.00,0.00,0.00:0.00,10.37,0.89:0.00,0.78,0.00:0.00,0.00,0.00:0.00,0.78,0.00:60,60,60:0.0,57.3,64.0:0,0,0:0,0,0:8,136,42:143,10,108:0,2,0:-,chr1 g.237105741A>G (intergenic):-,0.1:-,NOT_FOUND 1 237144513 rs1252171 T G 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.07907,G/0.9209;PC=0.563 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:248:29.01:29.01:0.00:1.00:1.00:0.00:60:31.8:0:0:39:112:27:chr1 g.237144512T>G (intergenic),chr1 g.237144512T>G (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 1 237144731 rs6671297 G C 73 nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.5739,C/0.4261;PC=0.983 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:73:57:0:0:26,47:814,1573:73.17,0.00:55.59,0.00:17.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,11.6:0,0:0,0:55,74:84,69:40,29:chr1 g.237144730G>C (intergenic),-:0.45,-:NOT_FOUND,- 1 237167218 rs4659762 A G 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5719,G/0.4281;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:453:52.90:52.90:0.00:1.00:1.00:0.00:70:38.9:0:0:54:96:27:chr1 g.237167217A>G (intergenic),chr1 g.237167217A>G (intergenic):0.47,0.47:NOT_FOUND,NOT_FOUND 1 237167673 . T . . NT END=237205821;NT GT ./. 1 237205870 . G . . NT END=237433796;NT GT ./. 1 237414360 rs71180012 GTGTA G 13 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=205;PC=0.006;Gene=RYR2/NM_001035.2/1;CC=c.49-19434_49-19431delTATG;VC=Intron;DM=RYR2/Ins145_P3_rec;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:GTGTA,G:9:7:0:4:5,4:169,137:0.00,12.92:0.00,6.72:0.00,6.21:0.00,0.85:0.00,0.97:0.00,0.85:60,60:30.0,7.2:2,0:0,0:33,51:117,79:7,6:-,NM_001035.2(RYR2) c.49-19436_49-19433delTGTA:-,NOT_FOUND:-,NOT_FOUND 1 237427391 rs397983389 G GCACACACA 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=259;NP=4;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.49-6380_49-6379insCACACACA;VC=Intron;DM=RYR2/Ins145_P3_rec;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:G,GCACACACA:3:4:4:0:1,2:35,134:0.00,6.74:0.00,0.10:0.00,6.64:0.00,0.46:0.00,0.87:0.00,0.46:60,60:33.0,59.0:0,2:0,0:115,49:27,102:0,22:-,NM_001035.2(RYR2) c.49-6406_49-6405insCACACACA:-,NOT_FOUND:-,NOT_FOUND 1 237429630 rs397794451 T TTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.613,TTG/0.387;DB;DBA=NA;PAF=T/0.613,TTG/0.387;NP=425;PC=0.005;Gene=RYR2/NM_001035.2/1;CC=c.49-4144_49-4143insGT;VC=Intron;DM=RYR2/Ins145_P3_rec;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TTG:4:3:2:0:2,2:66,68:0.00,6.55:0.00,3.28:0.00,3.28:0.00,0.94:0.00,0.89:0.00,0.89:60,60:35.0,17.0:0,0:0,0:84,62:64,79:0,38:-,NM_001035.2(RYR2) c.49-4167_49-4166insTG:-,NOT_FOUND:-,NOT_FOUND 1 237433625 rs2275287 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5885,T/0.4115;Gene=RYR2/NM_001035.2/1;CC=c.49-172C>T;VC=Intron;DM=RYR2/Ins145_P3_rec GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:17:0:0:9,8:298,236:0.00,22.31:0.00,22.31:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.8,42.0:0,0:0,0:71,53:79,98:25,39:-,NM_001035.2(RYR2) c.49-172C>T:-,0.44:-,NOT_FOUND 1 237433917 . G . . NT END=237494177;NT GT ./. 1 237434181 rs7526874 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.07388,A/0.9261;Gene=RYR2/NM_001035.2/1;CC=c.168+265G>A;VC=Intron;DM=RYR2/Ins145_P3_rec GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:40.8:0:0:91:60:4:NM_001035.2(RYR2) c.168+265G>A,NM_001035.2(RYR2) c.168+265G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 1 237494283 . G . . NT END=237519264;NT GT ./. 1 237519286 . G . . NT END=237527657;NT GT ./. 1 237527673 . G . . NT END=237532833;NT GT ./. 1 237532909 . G . . NT END=237538016;NT GT ./. 1 237538096 . G . . NT END=237540622;NT GT ./. 1 237540736 . G . . NT END=237550580;NT GT ./. 1 237550681 . G . . NT END=237551386;NT GT ./. 1 237551484 . G . . NT END=237580348;NT GT ./. 1 237580424 . G . . NT END=237586391;NT GT ./. 1 237586549 . G . . NT END=237604618;NT GT ./. 1 237604784 . G . . NT END=237608700;NT GT ./. 1 237608823 . G . . NT END=237617690;NT GT ./. 1 237617875 . G . . NT END=237619899;NT GT ./. 1 237619875 rs60132900 AT A 54 idl,rn VT=DEL;SST=Single;DP=111;DB;DBA=in-clinvar;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=66;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.1477-11delT;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,T,I,A:107:99:6:25:78,1,1,6,21:2456,10,12,187,796:0.00,-0.21,-0.16,12.09,54.44:0.00,-0.13,-0.08,10.31,36.07:0.00,-0.09,-0.09,1.78,18.38:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:16.8,111.0,12.0,28.0,5.0:0,0,0,0,4:0,0,0,0,0:49,98,150,65,52:102,29,1,74,87:24,0,0,18,22:-,NM_001035.2(RYR2) c.1477-24delT:-,NOT_FOUND:-,NOT_FOUND 1 237620036 . G . . NT END=237632391;NT GT ./. 1 237632488 . G . . NT END=237655105;NT GT ./. 1 237655225 . G . . NT END=237656253;NT GT ./. 1 237656018 rs12022208 A C,G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3357,C/0.6643;PC=0.001;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:9:C,G:7:7:0:0:6,1:171,20:19.54,1.64:19.54,1.64:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.8,152.0:0,0:0,0:29,25:120,108:26,0:NM_001035.2(RYR2) c.1828-236A>C,NM_001035.2(RYR2) c.1828-236A>G:0.62,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 237656122 . T TGGAAGGAAGGAAGGAA 11 idl,nt VT=INS;SST=Single;DP=16;Gene=RYR2/NM_001035.2/1;CC=c.1828-131_1828-130insGAAGGAAGGAAGGAAG;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:T,TGGAAGGAAGGAAGGAA:14:16:6:0:10,4:330,187:0.00,10.85:0.00,10.85:0.00,0.00:0.00,0.75:0.00,0.75:0.00,0.00:60,60:75.7,52.0:0,2:0,0:103,43:47,100:19,13:-,NM_001035.2(RYR2) c.1828-132_1828-131insGGAAGGAAGGAAGGAA:-,NOT_FOUND:-,NOT_FOUND 1 237656124 rs12022241 A G 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4313,G/0.5687;NP=123;NP=3;Gene=RYR2/NM_001035.2/1;CC=c.1828-130A>G;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A,G:16:16:0:0:1,15:12,489:0.00,54.56:0.00,54.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:152.0,54.2:0,0:0,0:131,78:2,64:0,24:NM_001035.2(RYR2) c.1828-130A>G,NM_001035.2(RYR2) c.1828-130A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 237656172 . A G 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;PC=0.010;Gene=RYR2/NM_001035.2/1;CC=c.1828-82A>G;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,G:40:40:0:3:36,4:1031,109:0.00,7.22:0.00,7.22:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:18.1,85.2:0,0:0,0:34,119:115,16:20,10:-,NM_001035.2(RYR2) c.1828-82A>G:-,NOT_FOUND:-,NOT_FOUND 1 237656174 . G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;PC=0.012;Gene=RYR2/NM_001035.2/1;CC=c.1828-80G>A;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:41:41:0:3:4,37:121,1124:8.33,0.00:8.33,0.00:0.00,0.00:0.58,0.00:0.58,0.00:0.00,0.00:60,60:98.2,19.1:0,0:0,0:121,37:14,113:10,21:NM_001035.2(RYR2) c.1828-80G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 237656181 rs575448073 A G 12 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.6841,G/0.3159;NP=6;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.1828-73A>G;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:47:47:0:0:42,5:1290,162:0.00,11.67:0.00,11.70:0.00,-0.02:0.00,0.73:0.00,0.73:0.00,0.40:60,60:26.7,75.8:29,2:0,0:46,8:99,139:26,2:-,NM_001035.2(RYR2) c.1828-73A>G:-,NOT_FOUND:-,NOT_FOUND 1 237656185 rs185840210 A AAGGGAGGG 88 nt VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6034,G/0.3966;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.1828-48_1828-47insGGGAGGGA;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G,AAGGGAGGG:50:50:28:0:14,8,28:410,257,863:0.00,22.10,87.55:0.00,20.54,87.73:0.00,1.55,-0.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.84:60,60,60:50.9,59.2,13.8:1,0,0:0,0,0:122,10,44:21,137,105:15,6,15:-,NM_001035.2(RYR2) c.1828-69_1828-68insAGGGAGGG:-,NOT_FOUND:-,NOT_FOUND 1 237656388 . G . . NT END=237659810;NT GT ./. 1 237660053 . G . . NT END=237664010;NT GT ./. 1 237664204 . G . . NT END=237666588;NT GT ./. 1 237666806 . G . . NT END=237670009;NT GT ./. 1 237666993 rs139726000 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9918,G/0.008187;NP=15;Gene=RYR2/NM_001035.2/1;CC=c.2613+188A>G;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:418:47.97:0.00:47.97:1.00:0.00:1.00:60:54.5:0:0:112:39:28:NM_001035.2(RYR2) c.2613+188A>G,NM_001035.2(RYR2) c.2613+188A>G:0.01,0.01:NOT_FOUND,NOT_FOUND 1 237670115 . G . . NT END=237674987;NT GT ./. 1 237675092 . G . . NT END=237693726;NT GT ./. 1 237693610 . CA C 7 idl,rn VT=DEL;SST=Single;DP=22;NP=8;PC=0.017;Gene=RYR2/NM_001035.2/1;CC=c.2823-102delA;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:CA,I,C:21:22:2:4:16,2,3:529,54,115:0.00,3.61,7.32:0.00,3.61,7.32:0.00,0.00,0.00:0.00,0.00,0.48:0.00,0.00,0.48:0.00,0.00,0.00:60,60,60:13.9,36.0,55.0:0,0,1:0,0,0:44,3,50:106,148,100:39,1,19:-,NM_001035.2(RYR2) c.2823-116delA:-,NOT_FOUND:-,NOT_FOUND 1 237693811 . G . . NT END=237711730;NT GT ./. 1 237711457 rs2618662 A G 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1697,G/0.8303;Gene=RYR2/NM_001035.2/1;CC=c.2907-274A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:425:48.65:48.65:0.00:1.00:1.00:0.00:60:42.9:0:0:31:120:19:NM_001035.2(RYR2) c.2907-274A>G,NM_001035.2(RYR2) c.2907-274A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 237711644 rs2618661 T C 164 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.1697,C/0.8303;Gene=RYR2/NM_001035.2/1;CC=c.2907-87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:40:0:0:45:1430:164.30:137.77:26.53:1.00:1.00:1.00:60:43.0:0:0:53:97:28:NM_001035.2(RYR2) c.2907-87T>C,NM_001035.2(RYR2) c.2907-87T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 1 237711797 rs2253273 A G 540 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=148;DB;DBA=in-clinvar;PAF=A/0.1697,C/.,G/0.8303,T/.;PC=0.049;Gene=RYR2/NM_001035.2/1;CC=c.2973A>G;ProtCh=p.S991=;VC=Silent;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:148:115:0:0:1,147:34,4731:0.00,539.92:0.00,298.66:0.00,241.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,34.8:0,0:0,0:24,52:126,95:0,33:NM_001035.2(RYR2) c.2973A>G (p.(=)),NM_001035.2(RYR2) c.2973A>G (p.(=)):0.83,0.83:0.851108,0.851108 1 237711891 . G . . NT END=237713843;NT GT ./. 1 237713992 . G . . NT END=237729866;NT GT ./. 1 237729774 rs2248295 G A 217 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.2045,A/0.7955;Gene=RYR2/NM_001035.2/1;CC=c.3215-93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:A:59:56:0:0:59:1893:217.35:194.18:23.17:1.00:1.00:1.00:60:47.6:0:0:39:112:24:NM_001035.2(RYR2) c.3215-93G>A,NM_001035.2(RYR2) c.3215-93G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 1 237730076 . G . . NT END=237732444;NT GT ./. 1 237730124 rs2805390 A G 258 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.09445,G/0.9056;Gene=RYR2/NM_001035.2/1;CC=c.3423+49A>G;VC=Intron;DM=RYR2/SPRY;DM=RYR2/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:74:19:0:0:1,72,1:10,2245,10:0.13,257.79,0.13:0.00,38.00,0.00:0.13,219.79,0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:174.0,56.4,29.0:0,0,0:0,0,0:65,97,72:86,53,78:0,29,0:NM_001035.2(RYR2) c.3423+49A>G,NM_001035.2(RYR2) c.3423+49A>G:0.91,0.91:0.905522,0.905522 1 237730169 rs2779401 C T 185 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.08067,T/0.9193;Gene=RYR2/NM_001035.2/1;CC=c.3423+94C>T;VC=Intron;DM=RYR2/SPRY;DM=RYR2/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:T:51:3:0:0:51:1604:184.63:7.70:176.92:1.00:1.00:1.00:60:69.0:0:0:110:41:25:NM_001035.2(RYR2) c.3423+94C>T,NM_001035.2(RYR2) c.3423+94C>T:0.93,0.93:NOT_FOUND,NOT_FOUND 1 237732332 rs2618717 C T 128 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.4988,T/0.5012;Gene=RYR2/NM_001035.2/1;CC=c.3424-113C>T;VC=Intron;DM=RYR2/SPRY;DM=RYR2/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:T:35:34:0:0:35:1113:127.98:118.69:9.29:1.00:1.00:1.00:60:67.9:0:0:49:102:29:NM_001035.2(RYR2) c.3424-113C>T,NM_001035.2(RYR2) c.3424-113C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 1 237732395 rs2805396 G A 239 nt VT=SNV;PN=C;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.5072,A/0.4928;Gene=RYR2/NM_001035.2/1;CC=c.3424-50G>A;VC=Intron;DM=RYR2/SPRY;DM=RYR2/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:A:64:58:0:0:64:2089:239.39:177.92:61.47:1.00:1.00:1.00:60:54.9:0:0:58:93:33:NM_001035.2(RYR2) c.3424-50G>A,NM_001035.2(RYR2) c.3424-50G>A:0.5,0.5:0.593504,0.593504 1 237732620 . G . . NT END=237753092;NT GT ./. 1 237752866 rs12043270 C T 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4447,T/0.5553;Gene=RYR2/NM_001035.2/1;CC=c.3599-227C>T;VC=Intron;DM=RYR2/SPRY;DM=RYR2/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:105:12.36:12.36:0.00:1.00:1.00:0.00:60:82.5:0:0:49:101:10:NM_001035.2(RYR2) c.3599-227C>T,NM_001035.2(RYR2) c.3599-227C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 1 237752868 rs201121147 T C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4459,C/0.5541;DB;DBA=NA;PAF=NA;Gene=RYR2/NM_001035.2/1;CC=c.3599-225T>C;VC=Intron;DM=RYR2/SPRY;DM=RYR2/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:116:13.48:13.48:0.00:1.00:1.00:0.00:60:82.5:0:0:51:99:10:NM_001035.2(RYR2) c.3599-225T>C,NM_001035.2(RYR2) c.3599-225T>C:0.53,0.53:NOT_FOUND,NOT_FOUND 1 237753302 . G . . NT END=237753939;NT GT ./. 1 237753519 rs6689871 T C,TC 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4475,C/0.5525;PC=0.029 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:C,TC:4:0:1:0:3,1:95,33:10.56,3.18:0.00,0.00:10.56,3.18:0.85,0.00:0.00,0.00:0.85,0.00:60,60:38.7,0.0:0,0:0,0:123,132:27,19:15,0:NM_001035.2(RYR2) c.3807+218T>C,NM_001035.2(RYR2) c.3807+218_3807+219insC:0.49,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 237754293 . G . . NT END=237755038;NT GT ./. 1 237754452 rs183811325 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.002;Gene=RYR2/NM_001035.2/1;CC=c.4160+160C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:7:0:0:0:3,4:94,108:0.00,10.60:0.00,0.00:0.00,10.60:0.00,0.90:0.00,0.00:0.00,0.90:60,60:63.3,121.0:0,0:0,0:29,130:109,20:3,5:-,NM_001035.2(RYR2) c.4160+160C>T:-,0.16:-,NOT_FOUND 1 237754459 rs187044143 T C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.003;Gene=RYR2/NM_001035.2/1;CC=c.4160+167T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:7:0:0:0:4,3:111,69:10.92,0.00:0.00,0.00:10.92,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:121.0,63.3:0,0:0,0:137,36:13,102:5,3:NM_001035.2(RYR2) c.4160+167T>C,-:0.16,-:NOT_FOUND,- 1 237754482 rs192582916 T C 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.007;Gene=RYR2/NM_001035.2/1;CC=c.4160+190T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:127:15.05:0.00:15.05:1.00:0.00:1.00:60:54.2:0:0:45:103:17:NM_001035.2(RYR2) c.4160+190T>C,NM_001035.2(RYR2) c.4160+190T>C:0.28,0.28:NOT_FOUND,NOT_FOUND 1 237755154 . G . . NT END=237756775;NT GT ./. 1 237755348 rs2779431 T C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.04453,C/0.9555;Gene=RYR2/NM_001035.2/1;CC=c.4275+195T>C;VC=Intron;DM=RYR2/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:203:23.16:0.00:23.16:1.00:0.00:1.00:60:71.2:0:0:110:40:30:NM_001035.2(RYR2) c.4275+195T>C,NM_001035.2(RYR2) c.4275+195T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 237756937 . G . . NT END=237758797;NT GT ./. 1 237758958 . G . . NT END=237765324;NT GT ./. 1 237765412 . G . . NT END=237774061;NT GT ./. 1 237774289 . G . . NT END=237777338;NT GT ./. 1 237778144 . G . . NT END=237780585;NT GT ./. 1 237780787 . G . . NT END=237787064;NT GT ./. 1 237787171 . G . . NT END=237788960;NT GT ./. 1 237788786 rs6683048 G A 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8259,A/0.1741;Gene=RYR2/NM_001035.2/1;CC=c.6023-175G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:383:44.02:44.02:0.00:1.00:1.00:0.00:60:132.8:0:0:12:138:5:NM_001035.2(RYR2) c.6023-175G>A,NM_001035.2(RYR2) c.6023-175G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 1 237788826 rs6659362 C G 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7506,G/0.2494;PC=0.004;Gene=RYR2/NM_001035.2/1;CC=c.6023-135C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:18:0:0:18:593:67.86:67.86:0.00:1.00:1.00:0.00:60:132.4:0:0:43:108:13:NM_001035.2(RYR2) c.6023-135C>G,NM_001035.2(RYR2) c.6023-135C>G:0.22,0.22:NOT_FOUND,NOT_FOUND 1 237788844 rs571092 T C 77 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.2588,C/0.7412;Gene=RYR2/NM_001035.2/1;CC=c.6023-117T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:C,G:21:20:0:0:20,1:683,10:77.41,0.35:71.43,0.35:5.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:115.5,134.0:0,0:0,0:36,64:114,87:28,0:NM_001035.2(RYR2) c.6023-117T>C,NM_001035.2(RYR2) c.6023-117T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 237788862 rs571026 T C 108 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.26,C/0.74;Gene=RYR2/NM_001035.2/1;CC=c.6023-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:26:0:0:28:944:107.72:96.59:11.13:1.00:1.00:1.00:60:99.0:0:0:39:111:25:NM_001035.2(RYR2) c.6023-99T>C,NM_001035.2(RYR2) c.6023-99T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 1 237789105 . G . . NT END=237791106;NT GT ./. 1 237789317 rs512336 A G 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1689,G/0.8311;Gene=RYR2/NM_001035.2/1;CC=c.6166+213A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:0:0:0:19:535:62.49:0.00:62.49:1.00:0.00:1.00:60:31.4:0:0:85:65:53:NM_001035.2(RYR2) c.6166+213A>G,NM_001035.2(RYR2) c.6166+213A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 1 237791381 . G . . NT END=237794726;NT GT ./. 1 237794842 . G . . NT END=237796877;NT GT ./. 1 237794913 . ATTTTTTTTTTT A 10 idl,nt VT=DEL;SST=Single;DP=30;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.6555+94_6555+104delTTTTTTTTTTT;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:ATTTTTTTTTTT,C,A:23:4:0:14:17,1,5:539,14,348:0.00,0.28,10.46:0.00,-0.04,1.05:0.00,0.31,9.40:0.00,0.00,0.80:0.00,0.00,0.53:0.00,0.00,0.98:60,60,60:33.4,115.0,153.0:0,0,7:0,0,0:132,125,63:17,23,84:5,0,31:-,NM_001035.2(RYR2) c.6555+73_6555+83delTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 1 237794988 rs35598083 C A 28 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6132,A/0.3868;PC=0.037;Gene=RYR2/NM_001035.2/1;CC=c.6555+147C>A;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,C:9:0:0:0:8,1:257,32:28.15,0.00:0.00,0.00:28.15,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,59:71.2,13.0:8,2:0,0:92,78:56,60:15,0:NM_001035.2(RYR2) c.6555+147C>A,-:NOT_FOUND,-:NOT_FOUND,- 1 237794989 rs573480460 A AG 29 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6224,AG/0.3776;DB;DBA=NA;PAF=NA;NP=23;PC=0.023;Gene=RYR2/NM_001035.2/1;CC=c.6555+148_6555+149insG;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,AG:9:0:8:0:1,8:27,269:0.00,29.35:0.00,0.00:0.00,29.35:0.00,1.00:0.00,0.00:0.00,1.00:59,60:13.0,71.2:2,0:0,0:79,93:59,55:0,15:-,NM_001035.2(RYR2) c.6555+148_6555+149insG:-,0.12:-,NOT_FOUND 1 237794991 rs35427056 G A 30 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6132,A/0.3868;PC=0.025;Gene=RYR2/NM_001035.2/1;CC=c.6555+150G>A;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:1:8:265:30.32:0.00:30.32:1.00:0.00:1.00:60:71.2:8:0:96:52:15:NM_001035.2(RYR2) c.6555+150G>A,NM_001035.2(RYR2) c.6555+150G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 237796759 rs10925478 G C 126 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7548,C/0.2452;Gene=RYR2/NM_001035.2/1;CC=c.6556-119G>C;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C,T:36:36:0:0:35,1:1103,8:126.48,0.15:118.35,0.15:8.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.9,77.0:0,0:0,0:37,54:114,85:24,0:NM_001035.2(RYR2) c.6556-119G>C,NM_001035.2(RYR2) c.6556-119G>C:0.22,0.22:NOT_FOUND,NOT_FOUND 1 237796837 rs10802626 G A 239 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.5715,A/0.4285;Gene=RYR2/NM_001035.2/1;CC=c.6556-41G>A;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A,G:66:58:0:0:65,1:2103,11:239.44,0.00:168.45,0.00:70.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,77.0:0,0:0,0:57,132:90,7:34,0:NM_001035.2(RYR2) c.6556-41G>A,NM_001035.2(RYR2) c.6556-41G>A:0.41,0.41:0.386791,0.386791 1 237797011 . G . . NT END=237798188;NT GT ./. 1 237797082 rs1967579 T G 123 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.5593,G/0.4407;Gene=RYR2/NM_001035.2/1;CC=c.6688+72T>G;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:G,T:37:7:0:0:36,1:1081,34:123.16,0.00:18.90,0.00:104.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.9,14.0:0,0:0,0:125,41:23,110:19,0:NM_001035.2(RYR2) c.6688+72T>G,NM_001035.2(RYR2) c.6688+72T>G:0.4,0.4:NOT_FOUND,NOT_FOUND 1 237797103 rs1967580 C A 77 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7256,A/0.2744;Gene=RYR2/NM_001035.2/1;CC=c.6688+93C>A;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A,C:24:2:0:0:23,1:673,11:76.63,0.00:4.94,0.00:71.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.0,14.0:0,0:0,0:111,62:40,89:21,0:NM_001035.2(RYR2) c.6688+93C>A,NM_001035.2(RYR2) c.6688+93C>A:0.27,0.27:NOT_FOUND,NOT_FOUND 1 237797973 rs7526807 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5693,T/0.4307;Gene=RYR2/NM_001035.2/1;CC=c.6689-216C>T;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:91.8:0:0:42:108:16:NM_001035.2(RYR2) c.6689-216C>T,NM_001035.2(RYR2) c.6689-216C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 1 237797997 rs7538471 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5573,G/0.4427;PC=0.139;Gene=RYR2/NM_001035.2/1;CC=c.6689-192A>G;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G,T:8:8:0:0:7,1:197,11:22.60,0.72:22.60,0.72:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.3,170.0:0,0:0,0:21,48:130,100:19,0:NM_001035.2(RYR2) c.6689-192A>G,NM_001035.2(RYR2) c.6689-192A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 1 237798041 rs397795515 T TA 39 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5481,TA/0.4519;DB;DBA=NA;PAF=T/0.5481,TA/0.4519;NP=463;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.6689-144dupA;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:TA:11:11:11:0:11:334:38.63:38.63:0.00:1.00:1.00:0.00:60:46.4:0:0:52:99:38:NM_001035.2(RYR2) c.6689-148_6689-147insA,NM_001035.2(RYR2) c.6689-148_6689-147insA:0.43,0.43:NOT_FOUND,NOT_FOUND 1 237798293 . G . . NT END=237801656;NT GT ./. 1 237798450 rs3736543 G A 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6851,A/0.3149;Gene=RYR2/NM_001035.2/1;CC=c.6792+158G>A;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:344:39.62:0.00:39.62:1.00:0.00:1.00:60:44.5:0:0:96:54:24:NM_001035.2(RYR2) c.6792+158G>A,NM_001035.2(RYR2) c.6792+158G>A:0.3,0.3:NOT_FOUND,NOT_FOUND 1 237801404 rs386370126 G GAA 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3762,GAA/0.6238,GAAA/.;DB;DBA=NA;PAF=G/0.3762,GAA/0.6238;DB;DBA=NA;PAF=G/0.3762,GAA/0.6238;DB;DBA=NA;PAF=G/0.3762,GAA/0.6238;NP=1;NP=38;Gene=RYR2/NM_001035.2/1;CC=c.6793-243_6793-242dupAA;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GAA:5:5:4:0:1,4:36,131:0.00,13.92:0.00,13.92:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,0.0:0,0:0,0:142,49:8,101:0,40:-,NM_001035.2(RYR2) c.6793-253_6793-252insAA:-,NOT_FOUND:-,NOT_FOUND 1 237801770 rs707189 T C 242 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=63;DB;DBA=in-clinvar;PAF=T/0.04513,C/0.9549;PC=0.859;Gene=RYR2/NM_001035.2/1;CC=c.6906T>C;ProtCh=p.L2302=;VC=Silent;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C:63:41:0:0:63:2125:242.48:105.90:136.58:1.00:1.00:1.00:60:43.3:0:0:77:67:31:NM_001035.2(RYR2) c.6906T>C (p.(=)),NM_001035.2(RYR2) c.6906T>C (p.(=)):0.96,0.96:0.959206,0.959206 1 237801793 . G . . NT END=237802314;NT GT ./. 1 237802176 rs505489 A C 72 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4109,C/0.5891;Gene=RYR2/NM_001035.2/1;CC=c.6929-139A>C;VC=Intron;DM=RYR2/RYDR_ITPR;DM=RYR2/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:20:0:0:21:622:72.10:70.90:1.20:1.00:1.00:1.00:60:43.1:0:0:49:101:34:NM_001035.2(RYR2) c.6929-139A>C,NM_001035.2(RYR2) c.6929-139A>C:0.58,0.58:NOT_FOUND,NOT_FOUND 1 237802502 . G . . NT END=237804196;NT GT ./. 1 237802559 rs530109 T C 142 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.001797,C/0.9982;NP=3417;Gene=RYR2/NM_001035.2/1;CC=c.7115+58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:A,C,G:41:9:0:0:2,38,1:21,1247,13:0.78,141.52,0.37:0.00,19.52,0.00:0.78,122.00,0.37:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:84.5,42.3,51.0:0,0,0:0,0,0:12,97,41:137,53,102:10,42,0:NM_001035.2(RYR2) c.7115+58T>C,NM_001035.2(RYR2) c.7115+58T>C:1,1:NOT_FOUND,NOT_FOUND 1 237804303 . G . . NT END=237806626;NT GT ./. 1 237806748 . G . . NT END=237811743;NT GT ./. 1 237811914 . G . . NT END=237813176;NT GT ./. 1 237813030 rs487056 C T 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.001797,T/0.9982;NP=2309;Gene=RYR2/NM_001035.2/1;CC=c.7513-147C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:696:80.05:80.05:0.00:1.00:1.00:0.00:60:57.9:0:0:55:95:30:NM_001035.2(RYR2) c.7513-147C>T,NM_001035.2(RYR2) c.7513-147C>T:1,1:NOT_FOUND,NOT_FOUND 1 237813126 rs625006 A G 164 nt VT=SNV;PN=G;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.4269,G/0.5731;Gene=RYR2/NM_001035.2/1;CC=c.7513-51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:G,T:47:39:0:0:45,2:1431,37:163.69,2.18:116.99,2.18:46.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.9,95.0:0,0:0,0:43,109:108,40:25,1:NM_001035.2(RYR2) c.7513-51A>G,NM_001035.2(RYR2) c.7513-51A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 1 237813398 . G . . NT END=237814710;NT GT ./. 1 237814783 rs684923 C T 147 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=in-clinvar;PAF=C/0.4451,T/0.5549;PC=0.967;Gene=RYR2/NM_001035.2/1;CC=c.7806C>T;ProtCh=p.H2602=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:23:0:0:39:1288:147.36:62.12:85.25:1.00:1.00:1.00:60:41.8:0:0:105:44:27:NM_001035.2(RYR2) c.7806C>T (p.(=)),NM_001035.2(RYR2) c.7806C>T (p.(=)):0.55,0.55:0.450733,0.450733 1 237814802 . G . . NT END=237817573;NT GT ./. 1 237814898 rs2184014 C A 65 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4437,A/0.5563;Gene=RYR2/NM_001035.2/1;CC=c.7824+97C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:567:64.79:0.00:64.79:1.00:0.00:1.00:60:44.5:0:0:102:47:37:NM_001035.2(RYR2) c.7824+97C>A,NM_001035.2(RYR2) c.7824+97C>A:0.55,0.55:NOT_FOUND,NOT_FOUND 1 237817514 rs397840686 GA G 148 rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=GA/0.5525,G/0.4475;DB;DBA=NA;PAF=GA/0.5525,G/0.4475;NP=1413;Gene=RYR2/NM_001035.2/1;CC=c.7825-51delA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:GA,G:44:38:0:42:2,42:48,1317:0.00,148.20:0.00,110.69:0.00,37.51:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,9.1:0,0:0,0:147,42:2,104:0,33:NM_001035.2(RYR2) c.7825-59delA,NM_001035.2(RYR2) c.7825-59delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 237817715 . G . . NT END=237819120;NT GT ./. 1 237817784 rs669375 A G 169 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.6466,G/0.3534;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.7965+70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:G:46:13:0:0:46:1472:169.08:29.88:139.20:1.00:1.00:1.00:60:33.7:0:0:114:36:20:NM_001035.2(RYR2) c.7965+70A>G,NM_001035.2(RYR2) c.7965+70A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 1 237819014 rs515474 C G 88 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6104,G/0.3896;Gene=RYR2/NM_001035.2/1;CC=c.7966-107C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:23:0:0:23:775:88.46:86.43:2.04:1.00:1.00:1.00:60:45.3:0:0:60:91:32:NM_001035.2(RYR2) c.7966-107C>G,NM_001035.2(RYR2) c.7966-107C>G:0.34,0.34:NOT_FOUND,NOT_FOUND 1 237819090 . AT A 9 rn VT=DEL;SST=Single;DP=51;NP=27;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.7966-20delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:AT,I,A:51:45:2:4:45,2,4:1400,61,134:0.00,3.47,9.30:0.00,3.64,5.54:0.00,-0.17,3.75:0.00,0.00,0.54:0.00,0.00,0.91:0.00,0.00,0.64:60,60,60:22.7,18.0,25.5:0,0,0:0,0,0:46,36,91:97,114,59:27,21,13:-,NM_001035.2(RYR2) c.7966-30delT:-,NOT_FOUND:-,NOT_FOUND 1 237819285 . G . . NT END=237821243;NT GT ./. 1 237819431 rs589806 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6196,T/0.3804;PC=0.005;Gene=RYR2/NM_001035.2/1;CC=c.8129+147C>T;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:440:50.64:0.00:50.64:1.00:0.00:1.00:60:49.5:0:0:102:49:39:NM_001035.2(RYR2) c.8129+147C>T,NM_001035.2(RYR2) c.8129+147C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 1 237819602 rs489001 G T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6008,T/0.3992;Gene=RYR2/NM_001035.2/1;CC=c.8129+318G>T;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:103:12.11:0.00:12.11:1.00:0.00:1.00:60:65.2:0:0:37:114:20:NM_001035.2(RYR2) c.8129+318G>T,NM_001035.2(RYR2) c.8129+318G>T:0.35,0.35:NOT_FOUND,NOT_FOUND 1 237821109 rs607785 T A 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.751,A/0.249;Gene=RYR2/NM_001035.2/1;CC=c.8130-135T>A;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:329:37.67:37.67:0.00:1.00:1.00:0.00:60:32.9:0:0:62:89:48:NM_001035.2(RYR2) c.8130-135T>A,NM_001035.2(RYR2) c.8130-135T>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 237821323 . G . . NT END=237823284;NT GT ./. 1 237823375 . G . . NT END=237824109;NT GT ./. 1 237823476 rs1342834 A G 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7222,G/0.2778;Gene=RYR2/NM_001035.2/1;CC=c.8298+102A>G;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:460:53.57:0.00:53.57:1.00:0.00:1.00:60:65.4:0:0:108:42:30:NM_001035.2(RYR2) c.8298+102A>G,NM_001035.2(RYR2) c.8298+102A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 1 237823959 rs475234 C T 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.004393,T/0.9956;NP=690;PC=0.536;Gene=RYR2/NM_001035.2/1;CC=c.8299-151C>T;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:435:50.17:50.17:0.00:1.00:1.00:0.00:60:48.9:0:0:38:113:22:NM_001035.2(RYR2) c.8299-151C>T,NM_001035.2(RYR2) c.8299-151C>T:1,1:NOT_FOUND,NOT_FOUND 1 237824248 . G . . NT END=237829811;NT GT ./. 1 237824332 rs471647 G A 178 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.005192,A/0.9948;NP=889;Gene=RYR2/NM_001035.2/1;CC=c.8436+85G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A:48:9:0:0:48:1555:178.39:21.22:157.17:1.00:1.00:1.00:60:40.7:0:0:111:35:28:NM_001035.2(RYR2) c.8436+85G>A,NM_001035.2(RYR2) c.8436+85G>A:1,1:NOT_FOUND,NOT_FOUND 1 237824474 rs559344 T C 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.7937,C/0.2063;Gene=RYR2/NM_001035.2/1;CC=c.8436+227T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:453:51.93:0.00:51.93:1.00:0.00:1.00:60:51.7:0:0:89:57:46:NM_001035.2(RYR2) c.8436+227T>C,NM_001035.2(RYR2) c.8436+227T>C:0.19,0.19:NOT_FOUND,NOT_FOUND 1 237829890 . G . . NT END=237831182;NT GT ./. 1 237831103 rs477245 C A 95 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.04792,A/0.9521;Gene=RYR2/NM_001035.2/1;CC=c.8515-80C>A;VC=Intron;DM=RYR2/RyR;DM=RYR2/RyR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:24:0:1:25:835:95.42:81.30:14.12:1.00:1.00:1.00:60:35.4:0:0:31:114:26:NM_001035.2(RYR2) c.8515-80C>A,NM_001035.2(RYR2) c.8515-80C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 1 237831259 . G . . NT END=237837395;NT GT ./. 1 237837520 . G . . NT END=237838030;NT GT ./. 1 237838147 . G . . NT END=237841347;NT GT ./. 1 237841413 . G . . NT END=237843755;NT GT ./. 1 237843878 . G . . NT END=237850754;NT GT ./. 1 237850805 . G . . NT END=237862264;NT GT ./. 1 237862164 rs1521745 G C 55 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.372;Gene=RYR2/NM_001035.2/1;CC=c.9068-101G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:482:54.88:53.04:1.84:1.00:1.00:1.00:60:36.7:0:0:62:88:33:NM_001035.2(RYR2) c.9068-101G>C,NM_001035.2(RYR2) c.9068-101G>C:0.5,0.5:NOT_FOUND,NOT_FOUND 1 237862326 . G . . NT END=237863528;NT GT ./. 1 237862436 rs1521744 T C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2726,C/0.7274;Gene=RYR2/NM_001035.2/1;CC=c.9128+111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:206:23.46:0.00:23.46:1.00:0.00:1.00:60:57.3:0:0:127:23:19:NM_001035.2(RYR2) c.9128+111T>C,NM_001035.2(RYR2) c.9128+111T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 1 237863439 rs12754190 G A 78 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5385,A/0.4615;Gene=RYR2/NM_001035.2/1;CC=c.9129-90G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:22:0:0:22:677:78.18:78.18:0.00:1.00:1.00:0.00:60:48.2:0:0:62:88:50:NM_001035.2(RYR2) c.9129-90G>A,NM_001035.2(RYR2) c.9129-90G>A:0.48,0.48:NOT_FOUND,NOT_FOUND 1 237863718 rs2797436 T G 234 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=in-clinvar;PAF=T/0.03075,A/.,G/0.9692;Gene=RYR2/NM_001035.2/1;CC=c.9318T>G;ProtCh=p.S3106=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G,T:67:25:0:0:66,1:2039,9:233.53,0.00:58.03,0.00:175.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,118.0:0,0:0,0:107,97:41,54:28,0:NM_001035.2(RYR2) c.9318T>G (p.(=)),NM_001035.2(RYR2) c.9318T>G (p.(=)):0.97,0.97:0.971824,0.971824 1 237863768 . G . . NT END=237865277;NT GT ./. 1 237863790 rs371120316 G GT 9 idl,rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=8;Gene=RYR2/NM_001035.2/1;CC=c.9367+36dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,GT,D:31:6:6:2:25,4,2:818,182,66:0.00,9.34,4.44:0.00,-0.14,1.21:0.00,9.48,3.23:0.00,0.62,0.00:0.00,0.52,0.00:0.00,0.62,0.00:60,60,60:36.9,86.0,33.5:0,2,0:0,0,0:116,111,112:30,39,36:18,21,5:-,NM_001035.2(RYR2) c.9367+23_9367+24insT:-,NOT_FOUND:-,NOT_FOUND 1 237865203 rs939699 C T 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.03075,T/0.9692;PC=0.023;Gene=RYR2/NM_001035.2/1;CC=c.9368-75C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:402:45.92:38.22:7.70:1.00:1.00:1.00:60:39.9:0:0:42:108:29:NM_001035.2(RYR2) c.9368-75C>T,NM_001035.2(RYR2) c.9368-75C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 237865360 . G . . NT END=237868512;NT GT ./. 1 237868644 . G . . NT END=237870248;NT GT ./. 1 237870570 . G . . NT END=237872157;NT GT ./. 1 237872399 . G . . NT END=237872779;NT GT ./. 1 237872714 rs397790132 GT G 49 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=GT/0.234,G/0.766;DB;DBA=NA;PAF=GT/0.234,G/0.766;NP=1134;Gene=RYR2/NM_001035.2/1;CC=c.10143-54delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:GT,T,G:18:15:0:15:2,1,15:56,9,448:0.00,0.27,49.20:0.00,-0.04,38.99:0.00,0.31,10.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:16.5,180.0,11.3:1,0,0:0,0,0:114,59,39:36,92,112:27,0,14:-,NM_001035.2(RYR2) c.10143-65delT:-,NOT_FOUND:-,NOT_FOUND 1 237872868 . G . . NT END=237875044;NT GT ./. 1 237875138 . G . . NT END=237880497;NT GT ./. 1 237880054 rs72260792 CCACA C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=265;Gene=RYR2/NM_001035.2/1;CC=c.10324-418_10324-415delACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CCACA,C:4:3:0:3:1,3:34,96:0.00,10.05:0.00,5.13:0.00,4.93:0.00,0.85:0.00,0.99:0.00,0.99:60,60:34.0,19.7:0,0:0,0:129,85:22,65:0,11:-,NM_001035.2(RYR2) c.10324-443_10324-440delCACA:-,NOT_FOUND:-,NOT_FOUND 1 237880669 . G . . NT END=237881761;NT GT ./. 1 237881770 rs2797441 C T 114 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=in-clinvar;PAF=C/0.03954,T/0.9605;PC=0.088;Gene=RYR2/NM_001035.2/1;CC=c.10503C>T;ProtCh=p.T3501=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:22:0:0:29:997:113.53:53.09:60.44:1.00:1.00:1.00:60:42.5:0:0:74:70:23:NM_001035.2(RYR2) c.10503C>T (p.(=)),NM_001035.2(RYR2) c.10503C>T (p.(=)):0.97,0.97:0.961616,0.961616 1 237881822 . G . . NT END=237886427;NT GT ./. 1 237886195 rs5781984 ACT A 27 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=ACT/0.5713,A/0.4287;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ACT/0.5713,A/0.4287;DB;DBA=NA;PAF=ACT/0.5713,A/0.4287;NP=801;PC=0.003;Gene=RYR2/NM_001035.2/1;CC=c.10555-229_10555-228delTC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:7:7:234:26.74:26.74:0.00:1.00:1.00:0.00:60:0.0:0:0:44:107:11:NM_001035.2(RYR2) c.10555-232_10555-231delCT,NM_001035.2(RYR2) c.10555-232_10555-231delCT:0.44,0.44:NOT_FOUND,NOT_FOUND 1 237886563 . G . . NT END=237889572;NT GT ./. 1 237886739 rs2797444 C T 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1022,T/0.8978;Gene=RYR2/NM_001035.2/1;CC=c.10689+177C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:238:27.61:0.00:27.61:1.00:0.00:1.00:60:43.4:0:0:139:12:7:NM_001035.2(RYR2) c.10689+177C>T,NM_001035.2(RYR2) c.10689+177C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 1 237889609 . G . . NT END=237890386;NT GT ./. 1 237890437 rs2685301 C T 83 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=in-clinvar;PAF=C/0.03974,T/0.9603;Gene=RYR2/NM_001035.2/1;CC=c.10776C>T;ProtCh=p.S3592=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:15:0:0:22:730:83.48:41.28:42.20:1.00:1.00:1.00:60:39.6:0:0:79:63:30:NM_001035.2(RYR2) c.10776C>T (p.(=)),NM_001035.2(RYR2) c.10776C>T (p.(=)):0.97,0.97:0.960779,0.960779 1 237890500 . G . . NT END=237893559;NT GT ./. 1 237893657 . G . . NT END=237895345;NT GT ./. 1 237893674 rs2797445 C T 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.01478,T/0.9852;Gene=RYR2/NM_001035.2/1;CC=c.10935+18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:10:0:0:22:633:73.68:23.59:50.09:1.00:1.00:1.00:60:41.3:0:0:91:59:33:NM_001035.2(RYR2) c.10935+18C>T,NM_001035.2(RYR2) c.10935+18C>T:0.99,0.99:0.985376,0.985376 1 237895191 rs71561898 T TAC 16 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=132;Gene=RYR2/NM_001035.2/1;CC=c.10936-127_10936-126insAC;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:T,TAC:7:6:5:0:2,5:66,155:0.00,16.07:0.00,12.53:0.00,3.53:0.00,0.98:0.00,1.00:0.00,0.81:60,60:12.0,15.8:0,0:0,0:13,54:137,97:1,42:-,NM_001035.2(RYR2) c.10936-155_10936-154insAC:-,NOT_FOUND:-,NOT_FOUND 1 237895450 . G . . NT END=237897004;NT GT ./. 1 237897057 . G . . NT END=237905595;NT GT ./. 1 237905570 rs397516499 CT C 24 idl,rn VT=DEL;SST=Single;DP=34;DB;DBA=in-clinvar;PAF=NA;NP=23;PC=0.002;Gene=RYR2/NM_001035.2/1;CC=c.11092-11delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:32:25:3:11:19,1,3,9:555,13,100,335:0.00,0.18,7.51,23.57:0.00,-0.12,6.53,15.53:0.00,0.30,0.98,8.04:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:20.6,73.0,16.0,38.8:1,0,0,2:0,0,0,0:32,65,45,53:116,58,75,98:18,0,7,31:-,NM_001035.2(RYR2) c.11092-25delT:-,NOT_FOUND:-,NOT_FOUND 1 237905650 . G . . NT END=237918360;NT GT ./. 1 237918418 . G . . NT END=237919587;NT GT ./. 1 237919409 rs397863123 GA G 25 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=429;PC=0.798;Gene=RYR2/NM_001035.2/1;CC=c.11146-170delA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:GA,G:9:9:0:8:1,8:28,224:0.00,24.81:0.00,24.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:0.0,9.6:0,0:0,0:142,90:8,60:0,35:-,NM_001035.2(RYR2) c.11146-178delA:-,NOT_FOUND:-,NOT_FOUND 1 237919688 . G . . NT END=237920996;NT GT ./. 1 237921077 . G . . NT END=237923075;NT GT ./. 1 237923053 rs2253831 C T 83 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.2384,T/0.7616;Gene=RYR2/NM_001035.2/1;CC=c.11326-23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:21:0:0:24:717:82.99:61.36:21.62:1.00:1.00:1.00:60:36.4:0:0:52:98:28:NM_001035.2(RYR2) c.11326-23C>T,NM_001035.2(RYR2) c.11326-23C>T:0.77,0.77:0.725983,0.725983 1 237923153 . G . . NT END=237924254;NT GT ./. 1 237924112 rs2056387 C A 28 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7556,A/0.2444;Gene=RYR2/NM_001035.2/1;CC=c.11403-143C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:246:28.38:28.38:0.00:1.00:1.00:0.00:60:40.9:5:0:67:83:23:NM_001035.2(RYR2) c.11403-143C>A,NM_001035.2(RYR2) c.11403-143C>A:0.24,0.24:NOT_FOUND,NOT_FOUND 1 237924114 rs6143694 C CAATGAATGGAGACATGT 16 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7113,CAATGAATGGAGACATGT/0.2887;DB;DBA=NA;PAF=C/0.7113,CAATGAATGGAGACATGT/0.2887;Gene=RYR2/NM_001035.2/1;CC=c.11403-140_11403-124dupAATGAATGGAGACATGT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,CAATGAATGGAGACATGT:8:8:5:0:3,5:95,164:0.00,16.49:0.00,16.49:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:49.7,35.6:0,0:0,0:124,55:18,96:1,20:-,NM_001035.2(RYR2) c.11403-141_11403-140insAATGAATGGAGACATGT:-,0.31:-,NOT_FOUND 1 237924329 . G . . NT END=237934106;NT GT ./. 1 237934188 . G . . NT END=237935311;NT GT ./. 1 237935401 . G . . NT END=237936819;NT GT ./. 1 237936949 . G . . NT END=237941965;NT GT ./. 1 237942071 . G . . NT END=237944864;NT GT ./. 1 237944947 . G . . NT END=237946974;NT GT ./. 1 237946964 rs790889 T C 96 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=in-clinvar;PAF=T/0.5853,C/0.4147,G/.;PC=0.048;Gene=RYR2/NM_001035.2/1;CC=c.11963-11T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:51:0:0:31,33:1004,1104:95.94,0.00:69.68,0.00:26.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,6.6:0,0:0,0:41,42:110,101:24,36:NM_001035.2(RYR2) c.11963-11T>C,-:0.43,-:0.326707,- 1 237948273 . G . . NT END=237949268;NT GT ./. 1 237949020 rs11370997 T TG 13 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=809;PC=0.937;Gene=RYR2/NM_001035.2/1;CC=c.13261-249_13261-248insG;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TG:4:4:4:0:4:109:12.80:12.80:0.00:1.00:1.00:0.00:60:32.5:0:0:27:120:17:NM_001035.2(RYR2) c.13261-249_13261-248insG,NM_001035.2(RYR2) c.13261-249_13261-248insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 237949337 . G . . NT END=237951287;NT GT ./. 1 237951436 . G . . NT END=237954728;NT GT ./. 1 237951451 rs2256242 A G 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=in-clinvar;PAF=A/0.3634,G/0.6366;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.13476+16A>G;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:16:0:0:27,24:877,772:0.00,73.33:0.00,18.79:0.00,54.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,39.3:0,0:0,0:86,104:65,46:39,18:-,NM_001035.2(RYR2) c.13476+16A>G:-,0.62:-,0.617642 1 237954816 . G . . NT END=237955404;NT GT ./. 1 237955624 . G . . NT END=237957166;NT GT ./. 1 237955649 rs570819253 CTGTG C 21 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=CTGTG/0.4718,C/0.5282;DB;DBA=NA;PAF=CTGTG/0.4718,C/0.5282;NP=12;Gene=RYR2/NM_001035.2/1;CC=c.13782+55_13782+58delTGTG;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTGTG,C:32:14:0:11:24,8:744,335:0.00,21.39:0.00,2.29:0.00,19.11:0.00,0.98:0.00,0.94:0.00,1.00:70,60:21.5,77.6:0,3:0,0:125,96:22,55:14,8:-,NM_001035.2(RYR2) c.13782+27_13782+30delTGTG:-,NOT_FOUND:-,NOT_FOUND 1 237955678 rs144369382 T C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4718,C/0.5282;NP=348;PC=0.179;Gene=RYR2/NM_001035.2/1;CC=c.13782+55T>C;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,T:26:4:0:0:6,20:155,608:12.28,0.00:-0.34,0.00:12.63,0.00:0.91,0.00:0.66,0.00:0.99,0.00:60,70:78.7,37.3:0,1:0,0:128,92:22,46:3,38:NM_001035.2(RYR2) c.13782+55T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 237955680 rs146659498 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4718,C/0.5282;NP=647;PC=0.127;Gene=RYR2/NM_001035.2/1;CC=c.13782+57T>C;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G,T:25:4:0:0:7,1,17:215,8,531:18.55,-0.10,0.00:-0.42,-0.05,0.00:18.97,-0.04,0.00:0.96,0.00,0.00:0.74,0.00,0.00:1.00,0.00,0.00:60,60,70:72.0,8.0,41.5:0,0,0:0,0,0:130,11,105:21,140,44:5,0,38:NM_001035.2(RYR2) c.13782+57T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 237955682 rs12739270 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=50;PC=0.048;Gene=RYR2/NM_001035.2/1;CC=c.13782+59C>T;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,T:25:4:0:0:20,5:472,148:0.00,11.80:0.00,0.70:0.00,11.10:0.00,0.83:0.00,0.60:0.00,0.98:60,70:40.9,73.8:0,0:0,0:125,43:26,106:11,36:-,NM_001035.2(RYR2) c.13782+59C>T:-,NOT_FOUND:-,NOT_FOUND 1 237955692 . TGTGTGC T 9 nt VT=DEL;SST=Single;DP=26;PC=0.126;Gene=RYR2/NM_001035.2/1;CC=c.13782+75_13782+80delCGTGTG;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:TGTGTGC,T:26:5:0:5:22,4:714,115:0.00,8.57:0.00,2.28:0.00,6.28:0.00,0.67:0.00,0.56:0.00,0.95:60,70:47.4,21.2:1,0:0,0:127,20:24,131:18,9:-,NM_001035.2(RYR2) c.13782+70_13782+75delGTGTGC:-,NOT_FOUND:-,NOT_FOUND 1 237957146 rs790902 G A 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.266,A/0.734;Gene=RYR2/NM_001035.2/1;CC=c.13783-21G>A;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:27:0:0:15,15:504,451:48.59,0.00:38.13,0.00:10.46,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:69.2,3.0:0,0:0,0:39,48:95,98:30,19:NM_001035.2(RYR2) c.13783-21G>A,-:0.73,-:0.624191,- 1 237957161 rs790901 A G 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=in-clinvar;PAF=A/0.2424,G/0.7576;Gene=RYR2/NM_001035.2/1;CC=c.13783-6A>G;VC=Intron;DM=RYR2/RR_TM4-6;DM=RYR2/RR_TM4-6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:32:0:0:19,16:589,548:0.00,51.98:0.00,37.14:0.00,14.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,66.4:0,0:0,0:48,35:88,84:33,19:-,NM_001035.2(RYR2) c.13783-6A>G:-,0.75:-,0.651378 1 237957298 . G . . NT END=237958588;NT GT ./. 1 237957309 rs790900 A C 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=A/0.2492,C/0.7508;PC=0.013;Gene=RYR2/NM_001035.2/1;CC=c.13913+12A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:20:0:0:23,17:746,556:0.00,51.85:0.00,15.24:0.00,36.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,39.4:0,0:0,0:89,111:55,35:38,28:-,NM_001035.2(RYR2) c.13913+12A>C:-,0.74:-,0.647839 1 237958632 . G . . NT END=237961336;NT GT ./. 1 237961471 . G . . NT END=237965155;NT GT ./. 1 237964934 rs7543732 A G 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4623,G/0.5377;Gene=RYR2/NM_001035.2/1;CC=c.14091-222A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:256:29.41:29.41:0.00:1.00:1.00:0.00:60:50.6:0:0:69:77:47:NM_001035.2(RYR2) c.14091-222A>G,NM_001035.2(RYR2) c.14091-222A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 1 237965133 . AT A 32 rn VT=DEL;SST=Single;DP=44;NP=27;PC=0.001;Gene=RYR2/NM_001035.2/1;CC=c.14091-11delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:44:32:2:12:30,2,12:992,65,372:0.00,4.16,32.01:0.00,3.14,14.39:0.00,1.03,17.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:19.5,75.0,11.8:0,0,0:0,0,0:48,53,23:103,95,122:26,43,9:-,NM_001035.2(RYR2) c.14091-22delT:-,NOT_FOUND:-,NOT_FOUND 1 237965217 . G . . NT END=237969436;NT GT ./. 1 237969584 . G . . NT END=237972200;NT GT ./. 1 237972336 . G . . NT END=237982335;NT GT ./. 1 237982493 . G . . NT END=237991680;NT GT ./. 1 237991746 . G . . NT END=237993829;NT GT ./. 1 237993724 rs2275692 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9157,T/0.08427;Gene=RYR2/NM_001035.2/1;CC=c.14656-106C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:C,T:12:12:0:0:6,6:206,172:0.00,16.43:0.00,16.43:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.2,44.7:0,0:0,0:58,69:93,81:21,40:-,NM_001035.2(RYR2) c.14656-106C>T:-,0.11:-,NOT_FOUND 1 237993931 . G . . NT END=237994813;NT GT ./. 1 237994866 . G . . NT END=237995851;NT GT ./. 1 237995671 rs12025731 A G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4309,G/0.5691;PC=0.003;Gene=RYR2/NM_001035.2/1;CC=c.14809-181A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:5:5:0:0:2,3:64,107:0.00,10.67:0.00,10.67:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,39.7:0,0:0,0:82,47:68,104:21,2:-,NM_001035.2(RYR2) c.14809-181A>G:-,0.53:-,NOT_FOUND 1 237995948 . A . . NT END=238045721;NT GT ./. 1 238005337 . GCA G 10 sb,rn VT=DEL;SST=Single;DP=4;NP=19;PC=0.002;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GCA,G:4:4:0:3:1,3:35,92:0.00,9.65:0.00,8.38:0.00,1.27:0.00,0.85:0.00,0.85:0.00,0.95:60,60:32.0,27.7:0,0:0,0:0,63:125,88:0,30:-,chr1 g.238005338_238005339delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 238045850 . C . . NT END=238046041;NT GT ./. 1 238046147 . C . . NT END=238048068;NT GT ./. 1 238047313 . C A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;NP=1;NP=13;Gene=LOC100130331/NR_027247.2/0;VC=NonCoding;Gene=ZP4/NM_021186.3/1;CC=c.1390+756G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,C:4:3:0:2:3,1:77,31:8.11,0.00:3.10,0.00:5.01,0.00:0.85,0.00:0.99,0.00:0.99,0.00:57,60:93.3,47.0:0,0:0,0:82,146:55,5:5,0:NM_021186.3(ZP4) c.1390+756G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 238047317 rs78448217 A C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=LOC100130331/NR_027247.2/0;VC=NonCoding;Gene=ZP4/NM_021186.3/1;CC=c.1390+752T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:2:4:120:13.89:5.89:8.00:1.00:1.00:1.00:60:84.0:0:0:62:66:35:NM_021186.3(ZP4) c.1390+752T>G,NM_021186.3(ZP4) c.1390+752T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 238047333 rs199660460 A C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=65;PC=0.014;Gene=LOC100130331/NR_027247.2/0;VC=NonCoding;Gene=ZP4/NM_021186.3/1;CC=c.1390+736T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,C:5:2:0:0:2,3:56,90:0.00,8.97:0.00,-0.40:0.00,9.37:0.00,0.78:0.00,0.87:0.00,0.78:57,60:54.5,45.3:0,1:0,0:93,36:26,115:14,22:-,NM_021186.3(ZP4) c.1390+736T>G:-,NOT_FOUND:-,NOT_FOUND 1 238048148 . C . . NT END=238048464;NT GT ./. 1 238048325 rs2298100 A G 168 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.1224,G/0.8776;Gene=LOC100130331/NR_027247.2/0;VC=NonCoding;Gene=ZP4/NM_021186.3/1;CC=c.1311+140T>C;VC=Intron;DM=ZP4/Zona_pellucida GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:G:46:28:0:0:46:1462:168.10:101.01:67.08:1.00:1.00:1.00:60:41.1:0:0:86:64:38:NM_021186.3(ZP4) c.1311+140T>C,NM_021186.3(ZP4) c.1311+140T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 1 238048616 . C . . NT END=238048690;NT GT ./. 1 238048881 . C . . NT END=238049055;NT GT ./. 1 238049187 . C . . NT END=238050070;NT GT ./. 1 238050169 . C . . NT END=238050673;NT GT ./. 1 238050862 . C . . NT END=238051657;NT GT ./. 1 238051811 . C . . NT END=238053166;NT GT ./. 1 238053270 . C . . NT END=238053354;NT GT ./. 1 238053477 . C . . NT END=238053760;NT GT ./. 1 238053936 . A . . NT END=240070751;NT GT ./. 1 238187843 rs144656643 ATGTG A 11 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=111;PC=0.005;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:6:4:166:11.37:7.30:4.07:0.93:0.99:0.99:60:27.0:2:0:86:63:16:chr1 g.238187844_238187847delTGTG (intergenic),chr1 g.238187844_238187847delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 238654968 rs115398741 C A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9954,A/0.004593;NP=30;PC=0.443 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,C:9:5:0:0:3,6:99,192:8.84,0.00:1.35,0.00:7.50,0.00:0.64,0.00:0.86,0.00:0.64,0.00:60,60:45.7,0.3:0,0:0,0:99,109:52,36:2,13:NR_015407.1(LOC339535) n.-5651G>T,-:0.01,-:NOT_FOUND,- 1 238655577 rs115794711 G A 42 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9954,A/0.004593;NP=19;PC=0.981 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:19:0:0:13,9:427,279:42.46,0.00:28.93,0.00:13.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,4.8:0,0:0,0:27,39:124,112:13,15:NR_015407.1(LOC339535) n.-6260C>T,-:0.01,-:NOT_FOUND,- 1 239087682 rs61579271 A AAC 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1845,AAC/0.8155,AACAC/.,AACACAC/.;DB;DBA=NA;PAF=A/0.1845,AAC/0.8155,AACACAC/.;NP=1;NP=16;NP=427;NP=8;PC=0.124;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,AAC:4:4:3:0:1,3:33,101:0.00,10.55:0.00,5.28:0.00,5.28:0.00,0.85:0.00,0.85:0.00,0.85:60,70:0.0,11.0:0,0:0,0:139,112:11,39:0,13:-,chr1 g.239087682_239087683insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 239216054 rs6688183 A G 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2198,G/0.7802;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:12:0:0:8,8:261,237:0.00,22.66:0.00,14.93:0.00,7.74:0.00,1.00:0.00,0.98:0.00,0.87:60,60:0.0,78.6:0,0:0,0:37,26:104,124:21,18:-,chr1 g.239216053A>G (intergenic):-,0.77:-,NOT_FOUND 1 239216186 rs12754904 G A 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2192,A/0.7808;PC=0.504 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:15:0:0:12,8:414,279:41.28,0.00:18.46,0.00:22.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.8,2.8:0,0:0,0:88,82:46,51:32,12:chr1 g.239216185G>A (intergenic),-:0.77,-:NOT_FOUND,- 1 239216233 rs191141405 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9884,A/0.01158;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:6:0:0:8,6:272,196:26.86,0.00:8.88,0.00:17.98,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:153.9,5.5:0,0:0,0:62,120:89,28:25,14:chr1 g.239216232G>A (intergenic),-:0.02,-:NOT_FOUND,- 1 239216238 rs12759966 C T 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2198,T/0.7802 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,T:13:5:0:0:5,8:149,268:0.00,26.87:0.00,8.65:0.00,18.22:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.6,153.9:0,0:0,0:125,67:25,84:25,25:-,chr1 g.239216237C>T (intergenic):-,0.74:-,NOT_FOUND 1 239216239 rs12741374 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2192,G/0.7808 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:12:5:0:0:4,8:141,251:0.00,25.60:0.00,9.08:0.00,16.52:0.00,1.00:0.00,0.99:0.00,1.00:60,60:2.8,148.5:0,0:0,0:98,82:52,65:28,24:-,chr1 g.239216238A>G (intergenic):-,0.74:-,NOT_FOUND 1 239216264 rs6690909 T C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2194,C/0.7806;PC=0.066 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,T:10:1:0:0:7,3:236,100:24.29,0.00:1.91,0.00:22.38,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:156.4,3.7:0,0:0,0:91,39:60,112:22,18:chr1 g.239216263T>C (intergenic),-:0.77,-:NOT_FOUND,- 1 239517337 rs5782079 A ATG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4549,ATG/0.5451,ATGTG/.;NP=1;NP=175;NP=2;NP=50;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,ATG:3:2:3:0:1,2:33,96:0.00,6.45:0.00,3.28:0.00,3.17:0.00,0.94:0.00,0.79:0.00,0.94:60,60:11.0,45.5:0,1:0,0:105,59:45,76:0,10:-,chr1 g.239517337_239517338insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 239525865 rs397983448 CCA C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CCA/0.356,C/0.644;NP=173;PC=0.112;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:CCA,C:4:2:0:3:1,3:9,92:0.00,9.71:0.00,6.90:0.00,2.81:0.00,0.85:0.00,0.95:0.00,0.95:60,60:57.0,9.3:0,0:0,0:122,30:29,121:0,8:-,chr1 g.239525866_239525867delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 239642490 rs71567247 C CCACA 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=32;NP=44;PC=0.004;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,CCACA:6:4:5:0:2,4:68,135:0.00,11.70:0.00,6.33:0.00,5.37:0.00,0.90:0.00,0.97:0.00,0.93:60,60:0.0,48.5:0,1:0,0:119,58:23,93:25,4:-,chr1 g.239642490_239642491insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 239869917 rs71166887 T TAC 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=249;PC=0.006;Gene=CHRM3/NM_000740.2/1;CC=c.-147+28358_-147+28359insCA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TAC:5:5:4:0:1,4:32,130:0.00,13.82:0.00,6.56:0.00,7.26:0.00,0.96:0.00,0.96:0.00,1.00:60,60:0.0,3.0:0,0:0,0:12,33:139,92:0,4:-,NM_000740.2(CHRM3) c.-147+28329_-147+28330insAC:-,NOT_FOUND:-,NOT_FOUND 1 239971067 rs529930 G A 14 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.01997,A/0.98;Gene=CHRM3/NM_000740.2/1;CC=c.-146-19485G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:4:0:0:5:118:14.11:8.02:6.09:1.00:1.00:1.00:60:41.8:0:0:7:144:3:NM_000740.2(CHRM3) c.-146-19485G>A,NM_000740.2(CHRM3) c.-146-19485G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 239971147 rs376416140 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8225,C/0.1775;DB;DBA=NA;PAF=NA;NP=206;NP=5;PC=0.001;Gene=CHRM3/NM_000740.2/1;CC=c.-146-19405T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,T:7:6:0:1:3,4:107,124:10.06,0.00:5.15,0.00:4.91,0.00:0.69,0.00:0.95,0.00:0.69,0.00:60,60:67.7,15.5:0,0:0,0:73,86:44,65:3,1:NM_000740.2(CHRM3) c.-146-19405T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 240072525 . A . . NT END=240255409;NT GT ./. 1 240136598 rs34312508 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8572,C/0.1428;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,T:4:1:0:0:2,2:69,59:6.65,0.00:1.89,0.00:4.76,0.00:0.94,0.00:0.67,0.00:0.94,0.00:60,60:73.5,29.5:0,0:0,0:64,106:86,44:36,43:chr1 g.240136597T>C (intergenic),-:0.11,-:NOT_FOUND,- 1 240222026 rs71646811 C A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8692,A/0.1308,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C:5:4:0:0:3,2:83,66:8.26,0.00:4.80,0.00:3.46,0.00:0.78,0.00:0.97,0.00:0.94,0.00:60,60:51.7,0.0:0,0:0,0:34,46:116,105:5,1:chr1 g.240222025C>A (intergenic),-:0.15,-:NOT_FOUND,- 1 240222055 rs71646812 A G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8399,G/0.1601;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:8:6:0:0:5,3:164,77:0.00,6.80:0.00,2.03:0.00,4.77:0.00,0.67:0.00,0.93:0.00,0.90:60,60:4.8,42.3:0,0:0,0:26,58:125,93:16,44:-,chr1 g.240222054A>G (intergenic):-,0.18:-,NOT_FOUND 1 240255203 rs12727981 G T 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6667,T/0.3333;Gene=FMN2/NM_001305424.1/1;CC=c.-207G>T;VC=5UTR;Gene=FMN2/NM_020066.4/0;CC=c.-207G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:26:0:0:26:873:99.70:99.70:0.00:1.00:1.00:0.00:60:52.1:0:0:37:114:34:NM_020066.4(FMN2) c.-207G>T,NM_020066.4(FMN2) c.-207G>T:0.38,0.38:NOT_FOUND,NOT_FOUND 1 240255568 rs71929261 GGGC G 833 PASS VT=DEL;SST=Single;DP=333;DB;DBA=NA;PAF=GGGC/0.2933,G/0.7067;DB;DBA=NA;PAF=GGGC/0.2933,G/0.7067;NP=704;Gene=FMN2/NM_001305424.1/1;CC=c.174_176delCGG;ProtCh=p.G59del;VC=InFrameDel;Gene=FMN2/NM_020066.4/0;CC=c.174_176delCGG;ProtCh=p.G59del;VC=InFrameDel;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGC,G:330:264:0:271:64,266:1578,7846:0.00,833.08:0.00,621.56:0.00,211.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.5,10.8:11,3:0,0:132,68:15,76:12,33:-,NM_020066.4(FMN2) c.162CGG[4] (p.Gly51[8]):-,0.68:-,NOT_FOUND 1 240255571 . C G 53 idl VT=SNV;PN=G;NN=G;SST=Single;DP=63;Gene=FMN2/NM_001305424.1/1;CC=c.162C>G;ProtCh=p.G54=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.162C>G;ProtCh=p.G54=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,D:63:39:0:284:2,38,22,1:21,1060,601,24:0.05,0.00,53.50,0.85:0.16,0.00,10.50,-0.21:-0.11,0.00,43.00,1.06:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:67.5,31.9,69.0,87.0:1,0,7,1:0,0,0,0:123,139,25,40:27,8,110,111:16,6,22,0:-,NM_020066.4(FMN2) c.162C>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 240256822 rs10926124 C A 814 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=219;DB;DBA=NA;PAF=C/0.6701,A/0.3299;PC=0.010;Gene=FMN2/NM_001305424.1/1;CC=c.1413C>A;ProtCh=p.A471=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.1413C>A;ProtCh=p.A471=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:219:144:0:0:219:7100:814.08:435.94:378.13:1.00:1.00:1.00:60:41.3:0:0:64:81:39:NM_020066.4(FMN2) c.1413C>A (p.(=)),NM_020066.4(FMN2) c.1413C>A (p.(=)):0.35,0.35:0.39721,0.39721 1 240257025 . G . . NT END=240286478;NT GT ./. 1 240258686 rs79231816 T TACACAC 14 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=17;NP=2;NP=21;NP=44;Gene=FMN2/NM_001305424.1/1;CC=c.1615+1687_1615+1688insCACACA;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1615+1687_1615+1688insCACACA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TACACAC:5:6:5:0:1,4:34,166:0.00,14.13:0.00,6.82:0.00,7.30:0.00,0.93:0.00,0.93:0.00,0.99:60,60:0.0,5.2:0,1:0,0:117,47:26,60:0,14:-,NM_020066.4(FMN2) c.1615+1662_1615+1663insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 240286646 . G . . NT END=240341220;NT GT ./. 1 240286773 rs3820506 C G 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8175,G/0.1825;Gene=FMN2/NM_001305424.1/1;CC=c.1782+128C>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+128C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:384:44.12:0.00:44.12:1.00:0.00:1.00:60:97.5:0:0:118:33:14:NM_020066.4(FMN2) c.1782+128C>G,NM_020066.4(FMN2) c.1782+128C>G:0.21,0.21:NOT_FOUND,NOT_FOUND 1 240286855 rs12021945 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8175,C/0.1825;Gene=FMN2/NM_001305424.1/1;CC=c.1782+210T>C;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+210T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:6:0:0:0:6:114:13.92:0.00:13.92:1.00:0.00:1.00:60:67.2:0:0:67:64:15:NM_020066.4(FMN2) c.1782+210T>C,NM_020066.4(FMN2) c.1782+210T>C:0.2,0.2:NOT_FOUND,NOT_FOUND 1 240305775 rs142700570 A ATATTTATTTATTTATTTATTTATT 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.44,ATATTTATTTATT/.,ATATTTATTTATTTATTTATT/0.3605;NP=1;NP=1;NP=18;Gene=FMN2/NM_001305424.1/1;CC=c.1782+19153_1782+19154insTTATTTATTTATTTATTTATTTAT;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+19153_1782+19154insTTATTTATTTATTTATTTATTTAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATATTTATTTATTTATTTATTTATT:5:5:4:0:1,4:34,132:0.00,14.02:0.00,14.02:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:35.0,0.0:0,0:0,0:142,34:9,115:0,4:-,NM_020066.4(FMN2) c.1782+19130_1782+19131insTATTTATTTATTTATTTATTTATT:-,NOT_FOUND:-,NOT_FOUND 1 240305899 rs12746598 C T 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7248,T/0.2752;PC=0.001;Gene=FMN2/NM_001305424.1/1;CC=c.1782+19254C>T;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+19254C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:20:0:0:24:755:86.87:63.71:23.16:1.00:1.00:1.00:60:39.2:0:0:48:102:18:NM_020066.4(FMN2) c.1782+19254C>T,NM_020066.4(FMN2) c.1782+19254C>T:0.25,0.25:NOT_FOUND,NOT_FOUND 1 240306822 rs200591057 CAA C 54 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=CAA/0.9926,C/0.007388;NP=102;PC=1.000;Gene=FMN2/NM_001305424.1/1;CC=c.1782+20179_1782+20180delAA;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+20179_1782+20180delAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,C:32:26:0:17:15,17:457,559:0.00,54.42:0.00,37.88:0.00,16.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,1.0:0,0:0,0:82,63:69,87:44,45:-,NM_020066.4(FMN2) c.1782+20178_1782+20179delAA:-,0.01:-,NOT_FOUND 1 240307389 rs2355833 C G 70 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3033,G/0.6967;PC=1.000;Gene=FMN2/NM_001305424.1/1;CC=c.1782+20744C>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+20744C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:12:0:0:18:611:69.68:42.20:27.49:1.00:1.00:1.00:60:39.2:0:0:32:117:20:NM_020066.4(FMN2) c.1782+20744C>G,NM_020066.4(FMN2) c.1782+20744C>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 240307892 rs1539200 A G 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3061,G/0.6939;PC=1.000;Gene=FMN2/NM_001305424.1/1;CC=c.1782+21247A>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+21247A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:9:0:0:17:577:65.81:30.42:35.39:1.00:1.00:1.00:60:35.1:0:0:80:70:41:NM_020066.4(FMN2) c.1782+21247A>G,NM_020066.4(FMN2) c.1782+21247A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 240308147 rs10926139 T C 113 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2931,C/0.7069;PC=0.004;Gene=FMN2/NM_001305424.1/1;CC=c.1782+21502T>C;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+21502T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:C:33:15:0:0:33:977:113.15:44.63:68.52:1.00:1.00:1.00:60:70.3:0:0:69:66:22:NM_020066.4(FMN2) c.1782+21502T>C,NM_020066.4(FMN2) c.1782+21502T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 1 240308200 rs12127949 T C 103 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.3095,C/0.6905;PC=1.000;Gene=FMN2/NM_001305424.1/1;CC=c.1782+21555T>C;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+21555T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:14:0:0:28:898:103.06:39.85:63.21:1.00:1.00:1.00:60:73.2:0:0:107:42:31:NM_020066.4(FMN2) c.1782+21555T>C,NM_020066.4(FMN2) c.1782+21555T>C:0.64,0.64:NOT_FOUND,NOT_FOUND 1 240308348 rs10926140 C G 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.3073,G/0.6927;PC=1.000;Gene=FMN2/NM_001305424.1/1;CC=c.1782+21703C>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+21703C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G,T:19:13:0:0:18,1:581,8:66.21,0.25:42.94,0.00:23.27,0.25:1.00,0.00:1.00,0.00:1.00,0.00:60,60:99.3,119.0:0,0:0,0:64,29:87,107:35,0:NM_020066.4(FMN2) c.1782+21703C>G,NM_020066.4(FMN2) c.1782+21703C>G:0.64,0.64:NOT_FOUND,NOT_FOUND 1 240308366 rs12127948 A G 75 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6879,G/0.3121;PC=0.999;Gene=FMN2/NM_001305424.1/1;CC=c.1782+21721A>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+21721A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:15:0:0:22:644:74.71:44.65:30.06:1.00:1.00:1.00:60:97.8:0:0:69:78:37:NM_020066.4(FMN2) c.1782+21721A>G,NM_020066.4(FMN2) c.1782+21721A>G:0.28,0.28:NOT_FOUND,NOT_FOUND 1 240308382 rs10926141 C A 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4429,A/0.5571;PC=1.000;Gene=FMN2/NM_001305424.1/1;CC=c.1782+21737C>A;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1782+21737C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:16:0:0:23:628:73.58:47.14:26.44:1.00:1.00:1.00:60:97.2:0:0:65:69:38:NM_020066.4(FMN2) c.1782+21737C>A,NM_020066.4(FMN2) c.1782+21737C>A:0.5,0.5:NOT_FOUND,NOT_FOUND 1 240341369 . G . . NT END=240343468;NT GT ./. 1 240343481 . G . . NT END=240351506;NT GT ./. 1 240351563 . G . . NT END=240370098;NT GT ./. 1 240351628 rs4659948 T C 67 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4091,C/0.5909;Gene=FMN2/NM_001305424.1/1;CC=c.1998+66T>C;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.1986+66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:4:0:0:18:581:66.68:8.84:57.84:1.00:1.00:1.00:60:36.6:0:0:75:75:41:NM_020066.4(FMN2) c.1986+66T>C,NM_020066.4(FMN2) c.1986+66T>C:0.55,0.55:0.653307,0.653307 1 240370629 rs10926166 C G 543 lc VT=SNV;PN=C;NN=A;SST=Single;DP=149;DB;DBA=NA;PAF=C/0.7127,G/0.2873;PC=0.998;Gene=FMN2/NM_001305424.1/1;CC=c.2529C>G;ProtCh=p.T843=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.2517C>G;ProtCh=p.T839=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:149:93:0:0:149:4728:543.38:244.55:298.83:1.00:1.00:1.00:60:38.2:0:0:79:68:36:NM_020066.4(FMN2) c.2517C>G (p.(=)),NM_020066.4(FMN2) c.2517C>G (p.(=)):0.26,0.26:0.354606,0.354606 1 240370769 rs146874723 T G 154 lc VT=SNV;PN=A;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.9972,A/.,G/0.002796;NP=46;Gene=FMN2/NM_001305424.1/1;CC=c.2669T>G;ProtCh=p.M890R;VC=Missense;Gene=FMN2/NM_020066.4/0;CC=c.2657T>G;ProtCh=p.M886R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:108:55:0:0:1,53,54:13,1605,1589:-0.03,153.57,0.00:-0.09,51.64,0.00:0.05,101.92,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:117.0,49.1,22.7:0,0,0:0,0,0:38,69,74:112,80,71:0,32,31:NM_020066.4(FMN2) c.2657T>G (p.Met886Arg),-:0.01,-:0.005459,- 1 240371009 rs200975594 T C 7 lc VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.9986,C/0.001398;NP=5;Gene=FMN2/NM_001305424.1/1;CC=c.2909T>C;ProtCh=p.L970P;VC=Missense;Gene=FMN2/NM_020066.4/0;CC=c.2897T>C;ProtCh=p.L966P;VC=Missense;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,T:37:13:0:0:5,32:109,932:7.01,0.00:3.27,0.00:3.74,0.00:0.77,0.00:0.77,0.00:0.97,0.00:60,60:105.8,26.8:0,0:0,0:58,84:37,49:11,37:NM_020066.4(FMN2) c.2897T>C (p.Leu966Pro),-:NOT_FOUND,-:NOT_FOUND,- 1 240371106 rs11586155 C T 79 lc VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=FMN2/NM_001305424.1/1;CC=c.3006C>T;ProtCh=p.P1002=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.2994C>T;ProtCh=p.P998=;VC=Silent;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:23:0:0:17,28:482,791:0.00,79.41:0.00,19.31:0.00,60.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.4,84.7:0,0:0,0:69,86:28,34:35,37:-,NM_020066.4(FMN2) c.2994C>T (p.(=)):-,0.21:-,NOT_FOUND 1 240371211 rs201587786 G T 32 lc VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8141,T/0.1859;Gene=FMN2/NM_001305424.1/1;CC=c.3111G>T;ProtCh=p.P1037=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.3099G>T;ProtCh=p.P1033=;VC=Silent;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:40:17:0:0:2,1,24,13:23,13,624,362:0.40,0.12,0.00,31.98:-0.17,0.30,0.00,3.19:0.57,-0.18,0.00,28.79:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:7,4,60,60:109.5,226.0,82.6,74.1:0,0,0,0:0,0,0,0:41,128,59,85:90,9,63,52:33,0,11,10:-,NM_020066.4(FMN2) c.3099G>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 240371223 rs575452021 C T 42 lc VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.7825,T/0.2175;NP=572;PC=0.001;Gene=FMN2/NM_001305424.1/1;CC=c.3123C>T;ProtCh=p.P1041=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.3111C>T;ProtCh=p.P1037=;VC=Silent;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:40:12:0:0:1,23,1,15:12,630,12,460:0.07,0.00,0.07,42.12:-0.03,0.00,-0.03,12.99:0.10,0.00,0.10,29.12:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:1,45,21,60:35.0,75.1,168.0,87.4:0,0,0,0:0,0,0,0:20,73,74,65:92,52,65,64:0,20,0,19:-,NM_020066.4(FMN2) c.3111C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 240371238 rs201302496 C T 12 lc VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=FMN2/NM_001305424.1/1;CC=c.3138C>T;ProtCh=p.P1046=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.3126C>T;ProtCh=p.P1042=;VC=Silent;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,G,T:46:13:0:0:40,1,5:1135,13,160:0.00,-0.04,11.58:0.00,-0.06,-0.33:0.00,0.03,11.91:0.00,0.00,0.74:0.00,0.00,0.69:0.00,0.00,0.74:60,60,27:81.6,180.0,57.4:0,0,0:0,0,0:86,95,25:41,56,98:23,0,10:-,NM_020066.4(FMN2) c.3126C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 240371250 rs530821922 A T 9 lc VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=FMN2/NM_001305424.1/1;CC=c.3150A>T;ProtCh=p.P1050=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.3138A>T;ProtCh=p.P1046=;VC=Silent;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,C,G,T:47:6:0:0:39,1,1,6:1061,9,13,136:0.00,-0.21,-0.02,8.89:0.00,-0.03,-0.03,-0.18:0.00,-0.18,0.01,9.06:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.54:0.00,0.00,0.00,0.86:60,1,60,60:62.7,28.0,180.0,144.3:0,0,0,0:0,0,0,0:92,21,107,88:51,91,44,34:36,0,0,9:-,NM_020066.4(FMN2) c.3138A>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 1 240371328 rs71646895 G A 42 lc VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.004;Gene=FMN2/NM_001305424.1/1;CC=c.3228G>A;ProtCh=p.A1076=;VC=Silent;Gene=FMN2/NM_020066.4/0;CC=c.3216G>A;ProtCh=p.A1072=;VC=Silent;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:1:0:0:14,11:425,335:41.70,0.00:1.61,0.00:40.09,0.00:1.00,0.00:0.71,0.00:1.00,0.00:27,13:61.7,31.6:0,0:0,0:72,79:44,21:35,19:NM_020066.4(FMN2) c.3216G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 240371554 rs12732924 A G 73 lc VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.04113,G/0.9589;PC=0.402;Gene=FMN2/NM_001305424.1/1;CC=c.3454A>G;ProtCh=p.R1152G;VC=Missense;Gene=FMN2/NM_020066.4/0;CC=c.3442A>G;ProtCh=p.R1148G;VC=Missense;DM=FMN2/Drf_FH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C,G,T:23:3:0:0:1,21,1:5,634,15:0.09,72.56,0.69:0.00,7.02,0.00:0.09,65.53,0.69:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:59,60,60:201.0,78.2,62.0:0,0,0:0,0,0:108,96,121:43,27,5:0,44,0:NM_020066.4(FMN2) c.3442A>G (p.Arg1148Gly),NM_020066.4(FMN2) c.3442A>G (p.Arg1148Gly):0.71,0.71:NOT_FOUND,NOT_FOUND 1 240372033 . G . . NT END=240374390;NT GT ./. 1 240374536 . G . . NT END=240421244;NT GT ./. 1 240421333 . G . . NT END=240458121;NT GT ./. 1 240421383 rs10926181 G A 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.2318,A/0.7682;Gene=FMN2/NM_001305424.1/1;CC=c.4165+51G>A;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.4153+51G>A;VC=Intron;DM=FMN2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:6:0:0:15,11:493,359:48.74,0.00:6.42,0.00:42.32,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:40.7,3.8:0,0:0,0:66,103:85,48:46,34:NM_020066.4(FMN2) c.4153+51G>A,-:0.78,-:0.721247,- 1 240458184 . G . . NT END=240492375;NT GT ./. 1 240458489 rs68097936 TAC T 8 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TAC/0.2336,T/0.7664;NP=2;Gene=FMN2/NM_001305424.1/1;CC=c.4227+341_4227+342delAC;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.4215+341_4215+342delAC;VC=Intron;DM=FMN2/FH2;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:TAC,T:5:3:0:3:2,3:62,85:0.00,8.46:0.00,3.26:0.00,5.21:0.00,0.78:0.00,0.94:0.00,0.97:60,60:14.5,35.0:0,0:0,0:102,42:37,108:46,27:-,NM_020066.4(FMN2) c.4215+307_4215+308delAC:-,NOT_FOUND:-,NOT_FOUND 1 240492468 . G . . NT END=240492638;NT GT ./. 1 240492769 . G . . NT END=240493902;NT GT ./. 1 240493636 rs6689742 G C 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=508;Gene=FMN2/NM_001305424.1/1;CC=c.4450-267G>C;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.4438-267G>C;VC=Intron;DM=FMN2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:8:0:0:9:251:29.32:25.54:3.78:1.00:1.00:1.00:60:49.7:0:0:30:121:22:NM_020066.4(FMN2) c.4438-267G>C,NM_020066.4(FMN2) c.4438-267G>C:1,1:NOT_FOUND,NOT_FOUND 1 240494050 . G . . NT END=240497186;NT GT ./. 1 240497247 . G . . NT END=240497408;NT GT ./. 1 240497530 . G . . NT END=240519115;NT GT ./. 1 240519209 . G . . NT END=240555810;NT GT ./. 1 240555863 . G . . NT END=240601360;NT GT ./. 1 240601269 rs2356386 A G 94 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.07268,G/0.9273;PC=0.527;Gene=FMN2/NM_001305424.1/1;CC=c.4923-92A>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.4911-92A>G;VC=Intron;DM=FMN2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:29:0:0:29:803:93.98:92.14:1.84:1.00:1.00:1.00:60:36.8:0:0:72:79:43:NM_020066.4(FMN2) c.4911-92A>G,NM_020066.4(FMN2) c.4911-92A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 240601511 . G . . NT END=240635671;NT GT ./. 1 240601632 rs2356387 A G 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7602,G/0.2398;Gene=FMN2/NM_001305424.1/1;CC=c.5072+122A>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.5060+122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:16:0:0:0:5,11:146,349:0.00,35.82:0.00,0.00:0.00,35.82:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.8,65.4:0,0:0,0:95,98:56,52:32,35:-,NM_020066.4(FMN2) c.5060+122A>G:-,0.21:-,NOT_FOUND 1 240601686 rs9700311 C G 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5357,G/0.4643;Gene=FMN2/NM_001305424.1/1;CC=c.5072+176C>G;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.5060+176C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,G:13:0:0:0:5,8:157,252:0.00,25.25:0.00,0.00:0.00,25.25:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,88.4:0,0:0,0:71,75:80,75:49,30:-,NM_020066.4(FMN2) c.5060+176C>G:-,0.49:-,NOT_FOUND 1 240601714 rs12217144 G A 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4818,A/0.5182;Gene=FMN2/NM_001305424.1/1;CC=c.5072+204G>A;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.5060+204G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:11:0:0:0:6,5:173,138:16.84,0.00:0.00,0.00:16.84,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:94.8,9.8:0,0:0,0:82,50:68,100:25,13:NM_020066.4(FMN2) c.5060+204G>A,-:0.53,-:NOT_FOUND,- 1 240628630 . CTGTGTGTGTGTGTGTGTGTGTG C 10 nt VT=DEL;SST=Single;DP=5;PC=0.003;Gene=FMN2/NM_001305424.1/1;CC=c.5073-7006_5073-6985delGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.5061-7006_5061-6985delGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CTGTGTGTGTGTGTGTGTGTGTG,C:5:4:0:3:2,3:65,96:0.00,9.57:0.00,10.17:0.00,-0.60:0.00,0.78:0.00,0.97:0.00,0.87:60,70:69.5,38.3:0,0:0,0:85,42:37,106:30,29:-,NM_020066.4(FMN2) c.5061-7041_5061-7020delTGTGTGTGTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 1 240628684 rs7516973 G C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7019,C/0.2981;PC=0.005;Gene=FMN2/NM_001305424.1/1;CC=c.5073-6988G>C;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.5061-6988G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:C,G:5:5:0:0:4,1:124,26:13.21,0.00:7.24,0.00:5.97,0.00:0.96,0.00:0.96,0.00:0.99,0.00:70,60:55.8,0.0:0,0:0,0:32,103:87,37:1,0:NM_020066.4(FMN2) c.5061-6988G>C,-:0.27,-:NOT_FOUND,- 1 240635491 rs2210861 G C 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.01058,C/0.9894;Gene=FMN2/NM_001305424.1/1;CC=c.5073-181G>C;VC=Intron;Gene=FMN2/NM_020066.4/0;CC=c.5061-181G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:207:24.87:24.87:0.00:1.00:1.00:0.00:60:29.9:0:0:63:88:26:NM_020066.4(FMN2) c.5061-181G>C,NM_020066.4(FMN2) c.5061-181G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 240635754 . G . . NT END=240637427;NT GT ./. 1 240637455 . A . . NT END=240656268;NT GT ./. 1 240656777 . C . . NT END=240694934;NT GT ./. 1 240656797 rs11806449 G A 146 nt VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.7969,A/0.2031;PC=0.012;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:93:39:0:0:46,47:1518,1436:145.76,0.00:49.51,0.00:96.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.7,41.4:0,0:0,0:105,104:40,47:24,17:NM_022469.3(GREM2) c.-1-21C>T,-:0.2,-:0.146205,- 1 240656824 rs10926280 C A 139 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.7123,A/0.2877;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-48G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:82:30:0:0:43,39:1426,1174:138.52,0.00:22.88,0.00:115.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.1,70.4:0,0:0,0:112,114:35,34:28,20:NM_022469.3(GREM2) c.-1-48G>T,-:0.31,-:0.261085,- 1 240656841 rs45519645 A T 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.7446,T/0.2554;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-65T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,I,D:61:18:1:1:30,29,1,1:826,888,29,33:0.00,84.88,1.38,1.78:0.00,20.29,-0.03,-0.03:0.00,64.59,1.42,1.81:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:53.1,88.9,15.0,74.0:0,1,0,0:0,0,0,0:119,114,17,104:32,35,134,47:20,17,0,0:-,NM_022469.3(GREM2) c.-1-65T>A:-,0.26:-,NOT_FOUND 1 240656852 rs75027152 T TA 32 idl,nt VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.7971,TA/0.2029;DB;DBA=NA;PAF=T/0.7971,TA/0.2029;DB;DBA=NA;PAF=NA;NP=27;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-77_-1-76insT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:51:17:16:0:7,32,12:183,930,501:13.55,0.00,31.99:6.07,0.00,8.32:7.48,0.00,23.67:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:107.1,58.5,98.3:0,0,4:0,0,0:107,122,120:42,28,27:25,21,8:-,NM_022469.3(GREM2) c.-1-77_-1-76insT:-,NOT_FOUND:-,NOT_FOUND 1 240694876 rs6693656 G A 240 nt VT=SNV;PN=G;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.0627,A/0.9373;PC=0.938;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-38100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:58:0:0:67:2085:240.26:166.48:73.78:1.00:1.00:1.00:60:36.1:0:0:38:112:29:NM_022469.3(GREM2) c.-1-38100C>T,NM_022469.3(GREM2) c.-1-38100C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 240694988 . t . . NT END=240939462;NT GT ./. 1 240695014 rs67857042 CTTTTT C 171 idl,nt VT=DEL;SST=Single;DP=86;DB;DBA=NA;PAF=CTTTTT/0.3261,C/0.6739;NP=105;PC=0.107;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-38243_-1-38239delAAAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTTT,C:73:48:0:65:22,51:707,2087:0.00,170.76:0.00,62.10:0.00,108.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,15.3:0,13:0,0:141,90:8,57:4,18:-,NM_022469.3(GREM2) c.-1-38243_-1-38239delAAAAA:-,NOT_FOUND:-,NOT_FOUND 1 240695094 rs6670314 C T 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.4687,T/0.5313;PC=0.001;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-38318G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:4:0:0:20,12:564,408:0.00,37.40:0.00,3.15:0.00,34.25:0.00,1.00:0.00,0.85:0.00,1.00:60,60:11.5,39.2:0,0:0,0:91,103:58,47:38,29:-,NM_022469.3(GREM2) c.-1-38318G>A:-,0.54:-,NOT_FOUND 1 240695255 rs12129547 C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6897,T/0.3103;Gene=MIR1273E/NR_128706.1/0;VC=NonCoding;Gene=GREM2/NM_022469.3/1;CC=c.-1-38479G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:9:0:0:0:3,6:96,194:0.00,19.77:0.00,0.00:0.00,19.77:0.00,0.99:0.00,0.00:0.00,0.99:60,60:53.7,43.2:0,0:0,0:81,131:70,18:45,8:-,NM_022469.3(GREM2) c.-1-38479G>A:-,0.31:-,NOT_FOUND 1 240934479 rs4628499 A C 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.3167,C/0.6833;PC=0.892 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A,C:12:7:0:0:1,11:11,322:0.00,36.00:0.00,14.79:0.00,21.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:99.0,54.1:0,0:0,0:77,61:74,85:0,18:chr1 g.240934478A>C (intergenic),chr1 g.240934478A>C (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 1 240939514 . C . . NT END=240963940;NT GT ./. 1 240964022 . C . . NT END=240964754;NT GT ./. 1 240964233 rs4603122 G C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5511,C/0.4489;PC=0.002;Gene=RGS7/NM_001282773.1/0;CC=c.1201-212C>G;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.1360-212C>G;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.1359+1971C>G;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.1413+522C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:163:18.68:8.15:10.53:1.00:1.00:1.00:60:38.2:0:0:79:72:12:NM_002924.4(RGS7) c.1413+522C>G,NM_002924.4(RGS7) c.1413+522C>G:0.48,0.48:NOT_FOUND,NOT_FOUND 1 240964809 . C . . NT END=240966203;NT GT ./. 1 240966294 . C . . NT END=240969439;NT GT ./. 1 240969627 . C . . NT END=240975217;NT GT ./. 1 240969897 rs10926357 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4493,T/0.5507;PC=0.017;Gene=RGS7/NM_001282773.1/0;CC=c.924-271G>A;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.1083-271G>A;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.1083-271G>A;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.1083-271G>A;VC=Intron;DM=RGS7/RGS;DM=RGS7/RGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G,T:7:0:0:0:1,6:13,174:0.95,19.83:0.00,0.00:0.95,19.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:172.0,42.8:0,0:0,0:136,88:14,62:0,24:NM_002924.4(RGS7) c.1083-271G>A,NM_002924.4(RGS7) c.1083-271G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 1 240975213 rs2275742 T C 134 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.5954,C/0.4046;PC=0.093;Gene=RGS7/NM_001282773.1/0;CC=c.923+5A>G;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.1082+5A>G;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.1082+5A>G;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.1082+5A>G;VC=Intron;DM=RGS7/RGS;DM=RGS7/RGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:30:0:0:34:1180:134.22:87.93:46.29:1.00:1.00:1.00:60:36.6:0:0:44:101:24:NM_002924.4(RGS7) c.1082+5A>G,NM_002924.4(RGS7) c.1082+5A>G:0.43,0.43:0.473547,0.473547 1 240975344 . C . . NT END=240976917;NT GT ./. 1 240975435 rs2275744 C T 95 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.5956,T/0.4044;Gene=RGS7/NM_001282773.1/0;CC=c.798-92G>A;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.957-92G>A;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.957-92G>A;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.957-92G>A;VC=Intron;DM=RGS7/RGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:8:0:0:25:827:94.58:17.40:77.18:1.00:1.00:1.00:60:36.3:0:0:108:40:23:NM_002924.4(RGS7) c.957-92G>A,NM_002924.4(RGS7) c.957-92G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 1 240977029 . C . . NT END=240978015;NT GT ./. 1 240977964 rs12744536 G T 81 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4708,T/0.5292;Gene=RGS7/NM_001282773.1/0;CC=c.686+52C>A;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.845+52C>A;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.845+52C>A;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.845+52C>A;VC=Intron;DM=RGS7/RGS;DM=RGS7/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:18:0:0:22:709:81.39:59.23:22.16:1.00:1.00:1.00:60:36.9:0:0:29:120:22:NM_002924.4(RGS7) c.845+52C>A,NM_002924.4(RGS7) c.845+52C>A:0.54,0.54:0.631057,0.631057 1 240978078 . C . . NT END=240979616;NT GT ./. 1 240979716 . C . . NT END=240990397;NT GT ./. 1 240979803 rs3738068 G A 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3067,A/0.6933;Gene=RGS7/NM_001282773.1/0;CC=c.526-88C>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.685-88C>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.685-88C>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.685-88C>T;VC=Intron;DM=RGS7/RGS;DM=RGS7/G-gamma GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:256:29.41:0.00:29.41:1.00:0.00:1.00:60:49.6:0:0:87:63:30:NM_002924.4(RGS7) c.685-88C>T,NM_002924.4(RGS7) c.685-88C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 240990473 . C . . NT END=241031886;NT GT ./. 1 240998216 . CCA C 9 rn VT=DEL;SST=Single;DP=8;NP=21;PC=0.007;Gene=RGS7/NM_001282773.1/0;CC=c.451-7746_451-7745delTG;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.610-7746_610-7745delTG;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.610-7746_610-7745delTG;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.610-7746_610-7745delTG;VC=Intron;DM=RGS7/RGS;DM=RGS7/G-gamma;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:CCA,C:8:6:0:3:5,3:171,96:0.00,8.73:0.00,6.19:0.00,2.54:0.00,0.67:0.00,0.93:0.00,0.85:60,60:4.2,8.7:0,0:0,0:32,44:119,105:25,9:-,NM_002924.4(RGS7) c.610-7746_610-7745delTG:-,NOT_FOUND:-,NOT_FOUND 1 241031969 . C . . NT END=241032075;NT GT ./. 1 241032153 . C . . NT END=241033354;NT GT ./. 1 241033420 . C . . NT END=241094016;NT GT ./. 1 241094069 . C . . NT END=241099899;NT GT ./. 1 241100007 . C . . NT END=241146378;NT GT ./. 1 241100122 rs261857 G T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6522,T/0.3478;PC=0.001;Gene=RGS7/NM_001282773.1/0;CC=c.226+46257C>A;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.227-116C>A;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.227-116C>A;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.227-116C>A;VC=Intron;DM=RGS7/DEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:0:0:0:13,9:430,292:0.00,27.03:0.00,0.00:0.00,27.03:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.9,39.7:0,0:0,0:104,108:47,42:36,14:-,NM_002924.4(RGS7) c.227-116C>A:-,0.36:-,NOT_FOUND 1 241146322 rs7520707 A G 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.644,G/0.356;PC=0.001;Gene=RGS7/NM_001282773.1/0;CC=c.226+57T>C;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.226+57T>C;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.226+57T>C;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.226+57T>C;VC=Intron;DM=RGS7/DEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:17:0:0:18:558:64.38:49.42:14.96:1.00:1.00:1.00:60:44.2:0:0:37:113:21:NM_002924.4(RGS7) c.226+57T>C,NM_002924.4(RGS7) c.226+57T>C:0.37,0.37:0.379939,0.379939 1 241146430 . C . . NT END=241261965;NT GT ./. 1 241161648 rs575226 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6697,G/0.3303;PC=0.019;Gene=RGS7/NM_001282773.1/0;CC=c.176-15219T>C;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.176-15219T>C;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.176-15219T>C;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.176-15219T>C;VC=Intron;DM=RGS7/DEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:257:29.51:29.51:0.00:1.00:1.00:0.00:60:60.8:0:0:49:99:26:NM_002924.4(RGS7) c.176-15219T>C,NM_002924.4(RGS7) c.176-15219T>C:0.34,0.34:NOT_FOUND,NOT_FOUND 1 241161775 rs670659 C T 99 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.6873,T/0.3127;PC=1.000;Gene=RGS7/NM_001282773.1/0;CC=c.176-15346G>A;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.176-15346G>A;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.176-15346G>A;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.176-15346G>A;VC=Intron;DM=RGS7/DEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:20:0:0:26:870:99.39:62.13:37.27:1.00:1.00:1.00:60:39.6:0:0:53:86:28:NM_002924.4(RGS7) c.176-15346G>A,NM_002924.4(RGS7) c.176-15346G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 1 241261787 rs12026118 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7991,T/0.2009;Gene=RGS7/NM_001282773.1/0;CC=c.175+179G>A;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.175+179G>A;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.175+179G>A;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.175+179G>A;VC=Intron;DM=RGS7/DEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,T:10:10:0:0:6,4:198,120:0.00,10.98:0.00,10.98:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:9.5,33.2:0,0:0,0:30,65:116,83:24,17:-,NM_002924.4(RGS7) c.175+179G>A:-,0.2:-,NOT_FOUND 1 241262063 . C . . NT END=241349754;NT GT ./. 1 241349774 . T . . NT END=241518998;NT GT ./. 1 241349810 rs199710247 C CATAT 11 idl,nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1;NP=15;PC=0.001;Gene=RGS7/NM_001282773.1/0;CC=c.79-87752_79-87749dupATAT;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87752_79-87749dupATAT;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87752_79-87749dupATAT;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87752_79-87749dupATAT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,CATAT:35:19:7:0:30,5:963,208:0.00,10.56:0.00,3.46:0.00,7.10:0.00,0.77:0.00,0.87:0.00,0.95:60,60:81.3,211.4:0,2:0,0:95,66:42,85:16,23:-,NM_002924.4(RGS7) c.79-87749_79-87748insATAT:-,NOT_FOUND:-,NOT_FOUND 1 241349824 rs375213177 T TATA 35 idl,nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=RGS7/NM_001282773.1/0;CC=c.79-87763_79-87762insTAT;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87763_79-87762insTAT;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87763_79-87762insTAT;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87763_79-87762insTAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TATA:30:16:16:1:18,12:504,497:0.00,34.72:0.00,6.76:0.00,27.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.4,182.2:0,4:0,0:110,100:20,50:21,13:-,NM_002924.4(RGS7) c.79-87763_79-87762insTAT:-,NOT_FOUND:-,NOT_FOUND 1 241349825 rs10926427 T A 30 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=61;PC=0.002;Gene=RGS7/NM_001282773.1/0;CC=c.79-87763A>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87763A>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87763A>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87763A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:7:0:1:10,16:331,508:30.36,0.00:0.69,0.00:29.67,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:139.7,139.8:0,16:0,0:91,105:54,45:28,12:NM_002924.4(RGS7) c.79-87763A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 241349826 rs56240023 T A 45 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.003;Gene=RGS7/NM_001282773.1/0;CC=c.79-87764A>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87764A>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87764A>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87764A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:6:0:1:14,11:462,337:45.46,0.00:11.79,0.00:33.68,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:150.7,123.5:12,1:0,0:105,98:44,47:18,18:NM_002924.4(RGS7) c.79-87764A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 241349827 rs76975057 T A 31 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5909,A/0.4091;NP=19;PC=0.003;Gene=RGS7/NM_001282773.1/0;CC=c.79-87765A>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87765A>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87765A>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87765A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T,I:26:7:1:1:10,15,1:332,494,27:30.66,0.00,1.51:0.89,0.00,1.70:29.77,0.00,-0.19:1.00,0.00,0.00:0.95,0.00,0.00:1.00,0.00,0.00:60,60,60:139.7,146.9,34.0:0,13,0:0,0,0:93,110,105:52,41,46:28,14,0:NM_002924.4(RGS7) c.79-87765A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 241349828 rs60984403 T A 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.003;Gene=RGS7/NM_001282773.1/0;CC=c.79-87766A>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87766A>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87766A>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87766A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:7:0:0:14,13:461,406:44.66,0.00:10.94,0.00:33.72,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:150.7,122.5:1,2:0,0:107,88:42,63:18,30:NM_002924.4(RGS7) c.79-87766A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 241349829 rs201824631 T A 30 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.7079,A/0.2921;PC=0.002;Gene=RGS7/NM_001282773.1/0;CC=c.79-87767A>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87767A>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87767A>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87767A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:7:0:0:10,17:331,557:30.14,0.00:0.72,0.00:29.42,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:134.5,127.3:1,1:0,0:87,112:64,39:36,14:NM_002924.4(RGS7) c.79-87767A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 241349830 . T A 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;PC=0.002;Gene=RGS7/NM_001282773.1/0;CC=c.79-87768A>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87768A>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87768A>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87768A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:7:0:0:14,13:448,417:43.33,0.00:9.51,0.00:33.82,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:150.7,117.0:0,1:0,0:109,90:40,61:18,30:NM_002924.4(RGS7) c.79-87768A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 241349831 rs200151006 T A 30 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.7592,A/0.2408;PC=0.002;Gene=RGS7/NM_001282773.1/0;CC=c.79-87769A>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87769A>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87769A>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87769A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:28:8:0:0:10,18:331,592:29.95,0.00:0.66,0.00:29.29,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:134.5,136.2:1,0:0,0:89,114:62,37:36,15:NM_002924.4(RGS7) c.79-87769A>T,-:NOT_FOUND,-:NOT_FOUND,- 1 241349852 rs111874703 T G 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8311,G/0.1689;PC=0.014;Gene=RGS7/NM_001282773.1/0;CC=c.79-87790A>C;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-87790A>C;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-87790A>C;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-87790A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:7:0:0:15,13:501,423:48.86,0.00:11.30,0.00:37.55,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:135.5,107.2:0,1:0,0:124,96:24,55:14,43:NM_002924.4(RGS7) c.79-87790A>C,-:0.18,-:NOT_FOUND,- 1 241350119 rs10737854 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5665,A/0.4335;Gene=RGS7/NM_001282773.1/0;CC=c.79-88057C>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.79-88057C>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.79-88057C>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.79-88057C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:0:0:0:3,1:75,35:7.91,0.00:0.00,0.00:7.91,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,42:61.7,32.0:0,0:0,0:75,120:39,30:16,0:NM_002924.4(RGS7) c.79-88057C>T,-:0.46,-:NOT_FOUND,- 1 241469428 rs61022380 TCA T,TCACA 10 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:34:TCA,TCACA,T:6:8:3:4:1,3,2:32,97,130:0.00,9.65,5.93:0.00,4.72,6.08:0.00,4.93,-0.15:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.90,0.00:60,60,60:0.0,5.3,0.0:0,0,2:0,0,0:12,37,34:139,112,94:0,8,6:NM_002924.4(RGS7) c.78+49569_78+49570delTG,NM_002924.4(RGS7) c.78+49569_78+49570dupTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 241519077 . G . . NT END=241661127;NT GT ./. 1 241519098 rs4659599 T A 203 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.05172,A/0.9483;PC=0.120;Gene=RGS7/NM_001282773.1/0;CC=c.-22A>T;VC=5UTR;Gene=RGS7/NM_001282775.1/1;CC=c.-22A>T;VC=5UTR;Gene=RGS7/NM_001282778.1/0;CC=c.-22A>T;VC=5UTR;Gene=RGS7/NM_002924.5/0;CC=c.-22A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:A:56:33:0:0:56:1767:203.29:89.95:113.33:1.00:1.00:1.00:60:39.4:0:0:104:38:24:NM_002924.4(RGS7) c.-22A>T,NM_002924.4(RGS7) c.-22A>T:0.96,0.96:0.951099,0.951099 1 241519317 rs6677041 A G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1809,G/0.8191;PC=0.002;Gene=RGS7/NM_001282773.1/0;CC=c.-50-191T>C;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.-50-191T>C;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.-50-191T>C;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.-50-191T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:242:27.54:0.00:27.54:1.00:0.00:1.00:60:53.7:0:0:53:97:35:NM_002924.4(RGS7) c.-50-191T>C,NM_002924.4(RGS7) c.-50-191T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 1 241519418 rs1341466 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.05192,A/0.9481;Gene=RGS7/NM_001282773.1/0;CC=c.-50-292C>T;VC=Intron;Gene=RGS7/NM_001282775.1/1;CC=c.-50-292C>T;VC=Intron;Gene=RGS7/NM_001282778.1/0;CC=c.-50-292C>T;VC=Intron;Gene=RGS7/NM_002924.5/0;CC=c.-50-292C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:112:13.08:0.00:13.08:1.00:0.00:1.00:60:67.5:0:0:124:25:9:NM_002924.4(RGS7) c.-50-292C>T,NM_002924.4(RGS7) c.-50-292C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 1 241661271 . C . . NT END=241663736;NT GT ./. 1 241663891 . C . . NT END=241665742;NT GT ./. 1 241663902 rs74405673 T TGAGA 32 idl,rn VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=11;NP=3;NP=34;NP=4;NP=5;Gene=FH/NM_000143.3/1;CC=c.1237-13_1237-12insTCTC;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,TGAGA:61:45:28:0:4,1,42,14:116,10,1125,829:7.52,-0.11,0.00,32.24:0.86,-0.00,0.00,12.31:6.66,-0.11,0.00,19.94:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:106.8,55.0,11.2,34.4:0,0,0,14:0,0,0,0:73,112,112,61:70,36,32,88:10,0,23,16:-,NM_000143.3(FH) c.1237-13_1237-12insTCTC:-,NOT_FOUND:-,NOT_FOUND 1 241665510 rs2185626 A G 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6665,G/0.3335;PC=0.003;Gene=FH/NM_000143.3/1;CC=c.1236+233T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,G:8:8:0:0:4,4:115,112:0.00,10.71:0.00,10.71:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:17.8,40.2:0,0:0,0:34,51:116,99:21,18:-,NM_000143.3(FH) c.1236+233T>C:-,0.35:-,NOT_FOUND 1 241665871 . C . . NT END=241667341;NT GT ./. 1 241667233 rs4660099 C T 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.7857,T/0.2143;Gene=FH/NM_000143.3/1;CC=c.1108+109G>A;VC=Intron;DM=FH/Lyase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:40:0:0:20,20:694,594:0.00,56.86:0.00,56.86:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.2,73.1:0,0:0,0:61,36:90,114:44,32:-,NM_000143.3(FH) c.1108+109G>A:-,0.26:-,NOT_FOUND 1 241667244 rs4659607 G T 142 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.2642,T/0.7358;Gene=FH/NM_000143.3/1;CC=c.1108+98C>A;VC=Intron;DM=FH/Lyase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A,T:43:42:0:0:1,42:7,1229:0.10,142.27:0.10,134.98:0.00,7.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:120.0,49.0:0,0:0,0:46,47:105,103:0,34:NM_000143.3(FH) c.1108+98C>A,NM_000143.3(FH) c.1108+98C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 1 241667546 . C . . NT END=241669302;NT GT ./. 1 241669469 . C . . NT END=241671902;NT GT ./. 1 241669668 rs137943762 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9846,T/0.01538;Gene=FH/NM_000143.3/1;CC=c.739-200G>A;VC=Intron;DM=FH/Lyase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:6:0:0:0:4,2:101,70:0.00,6.31:0.00,0.00:0.00,6.31:0.00,0.42:0.00,0.00:0.00,0.42:60,60:5.0,46.0:0,0:0,0:105,41:45,104:19,21:-,NM_000143.3(FH) c.739-200G>A:-,0.01:-,NOT_FOUND 1 241672086 . C . . NT END=241675266;NT GT ./. 1 241675119 rs6673988 G C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7141,C/0.2859;PC=0.004;Gene=FH/NM_000143.3/1;CC=c.555+148C>G;VC=Intron;DM=FH/Lyase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,G:14:14:0:0:6,8:184,276:17.11,0.00:17.11,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:36.8,0.0:0,0:0,0:37,35:113,114:12,10:NM_000143.3(FH) c.555+148C>G,-:0.31,-:NOT_FOUND,- 1 241675444 . C . . NT END=241676902;NT GT ./. 1 241676758 rs10926500 C T 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6192,T/0.3808;PC=0.001;Gene=FH/NM_000143.3/1;CC=c.378+145G>A;VC=Intron;DM=FH/Lyase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,T:11:11:0:0:5,6:146,182:0.00,17.78:0.00,17.78:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:15.4,47.0:0,0:0,0:40,28:111,122:18,20:-,NM_000143.3(FH) c.378+145G>A:-,0.4:-,NOT_FOUND 1 241677014 . C . . NT END=241680481;NT GT ./. 1 241680617 . C . . NT END=241682890;NT GT ./. 1 241683023 . G . . NT END=241695624;NT GT ./. 1 241695799 . G . . NT END=241699762;NT GT ./. 1 241699865 . G . . NT END=241712128;NT GT ./. 1 241712199 . G . . NT END=241712976;NT GT ./. 1 241713075 . G . . NT END=241714254;NT GT ./. 1 241714345 . G . . NT END=241718911;NT GT ./. 1 241718961 . G . . NT END=241723964;NT GT ./. 1 241724053 . G . . NT END=241725466;NT GT ./. 1 241725633 . G . . NT END=241728286;NT GT ./. 1 241728011 rs74225732 T TTCTC 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1897,TTCTC/0.8103;DB;DBA=NA;PAF=T/0.1897,TTC/.,TTCTC/0.8103;DB;DBA=NA;PAF=NA;NP=214;PC=0.001;Gene=KMO/NM_003679.4/1;CC=c.616-272_616-269dupCTCT;VC=Intron;DM=KMO/FAD_binding_3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TTCTC:4:4:3:0:1,3:31,102:0.00,10.65:0.00,10.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:42.0,0.0:1,0:0,0:74,59:76,92:0,19:-,NM_003679.4(KMO) c.616-276_616-275insTCTC:-,0.82:-,NOT_FOUND 1 241728359 . G . . NT END=241729790;NT GT ./. 1 241729614 rs10754731 T G 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1887,G/0.8113;Gene=KMO/NM_003679.4/1;CC=c.688-177T>G;VC=Intron;DM=KMO/FAD_binding_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G,T:12:12:0:0:11,1:363,8:40.24,0.00:40.24,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.5,177.0:0,0:0,0:65,63:86,88:40,0:NM_003679.4(KMO) c.688-177T>G,NM_003679.4(KMO) c.688-177T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 241729913 . G . . NT END=241731799;NT GT ./. 1 241731948 . G . . NT END=241749980;NT GT ./. 1 241750039 . G . . NT END=241752049;NT GT ./. 1 241750285 rs685722 T A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.09685,A/0.9032;Gene=KMO/NM_003679.4/1;CC=c.1015+247T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:41.5:0:0:107:43:20:NM_003679.4(KMO) c.1015+247T>A,NM_003679.4(KMO) c.1015+247T>A:0.88,0.88:NOT_FOUND,NOT_FOUND 1 241752133 . G . . NT END=241753313;NT GT ./. 1 241753416 . G . . NT END=241753505;NT GT ./. 1 241753566 . G . . NT END=241755254;NT GT ./. 1 241755456 . T . . NT END=241757729;NT GT ./. 1 241755567 rs1053221 T C 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.865,C/0.135;PC=0.001;Gene=KMO/NM_003679.4/1;CC=c.*112T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:0:0:0:8,13:247,390:22.45,0.00:0.00,0.00:22.45,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:44.2,22.1:0,0:0,0:139,109:12,42:5,26:NM_003679.4(KMO) c.*112T>C,-:0.13,-:NOT_FOUND,- 1 241757549 rs3765809 G T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8239,T/0.1761;Gene=KMO/NM_003679.4/1;CC=c.*2094G>T;VC=3UTR;Gene=OPN3/NM_014322.2/1;CC=c.*181C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:16:16:0:0:10,6:349,198:0.00,18.07:0.00,18.07:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:0.0,37.3:0,0:0,0:34,47:115,104:22,14:-,NM_003679.4(KMO) c.*2094G>T:-,0.17:-,NOT_FOUND 1 241757994 . C . . NT END=241761047;NT GT ./. 1 241761300 . C . . NT END=241767561;NT GT ./. 1 241767882 . C . . NT END=241797097;NT GT ./. 1 241767930 rs632966 G A 191 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.09245,A/0.9075;Gene=OPN3/NM_014322.2/1;CC=c.374-49C>T;VC=Intron;DM=OPN3/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A:51:13:0:0:51:1663:190.55:32.70:157.85:1.00:1.00:1.00:60:42.0:0:0:107:43:28:NM_014322.2(OPN3) c.374-49C>T,NM_014322.2(OPN3) c.374-49C>T:0.91,0.91:0.944009,0.944009 1 241798443 rs41269377 G A 92 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.9804,A/0.01957;Gene=OPN3/NM_014322.2/1;CC=c.373+4741C>T;VC=Intron;Gene=CHML/NM_001821.3/1;CC=c.626C>T;ProtCh=p.A209V;VC=Missense;DM=OPN3/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:86:55:0:0:34,1,51:1002,12,1603:91.56,-0.08,0.00:43.34,0.03,0.00:48.22,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.8,53.0,8.8:0,0,0:0,0,0:77,87,55:74,59,95:34,0,36:NM_001821.3(CHML) c.626C>T (p.Ala209Val),-:0.02,-:0.021686,- 1 241798631 rs3737604 C T 431 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.7234,A/.,T/0.2766;Gene=OPN3/NM_014322.2/1;CC=c.373+4553G>A;VC=Intron;Gene=CHML/NM_001821.3/1;CC=c.438G>A;ProtCh=p.S146=;VC=Silent;DM=OPN3/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:114:82:0:0:114:3766:430.90:249.65:181.25:1.00:1.00:1.00:60:37.8:0:0:57:92:31:NM_001821.3(CHML) c.438G>A (p.(=)),NM_001821.3(CHML) c.438G>A (p.(=)):0.26,0.26:0.31821,0.31821 1 241799069 . T . . NT END=241803183;NT GT ./. 1 241803557 . g . . NT END=241815786;NT GT ./. 1 241803636 rs7513575 T C 367 nt VT=SNV;PN=G;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.2177,C/0.7823;Gene=OPN3/NM_014322.2/1;CC=c.-80A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:97:46:0:0:97:3213:367.41:116.70:250.72:1.00:1.00:1.00:60:69.2:0:0:99:44:23:NM_014322.2(OPN3) c.-80A>G,NM_014322.2(OPN3) c.-80A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 1 241803658 rs7513451 A G 288 nt VT=SNV;PN=T;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.2171,G/0.7829;Gene=OPN3/NM_014322.2/1;CC=c.-102T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:84:39:0:0:83,1:2493,8:288.16,0.07:81.76,0.07:206.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.2,93.0:0,0:0,0:110,84:34,67:22,0:NM_014322.2(OPN3) c.-102T>C,NM_014322.2(OPN3) c.-102T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 241803731 rs71174826 AC A 89 rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=237;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:0:0:27:26:770:89.39:0.00:89.39:1.00:0.00:1.00:60:43.6:0:0:86:64:26:NM_001821.3(CHML) c.-164-u4500delG,NM_001821.3(CHML) c.-164-u4500delG:0.7,0.7:NOT_FOUND,NOT_FOUND 1 241803807 rs113718400 C A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9824,A/0.01757;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:0:0:0:8,8:195,225:18.45,0.00:0.00,0.00:18.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.8,4.4:0,0:0,0:72,90:78,60:48,55:NM_001821.3(CHML) c.-164-u4575G>T,-:0.04,-:NOT_FOUND,- 1 241815932 . G . . NT END=241823831;NT GT ./. 1 241816142 rs7537781 T G 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.03474,G/0.9653;PC=0.019;Gene=WDR64/NM_144625.4/1;CC=c.145+211T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:452:52.73:0.00:52.73:1.00:0.00:1.00:60:61.6:0:0:89:62:47:NM_144625.4(WDR64) c.145+211T>G,NM_144625.4(WDR64) c.145+211T>G:0.92,0.92:NOT_FOUND,NOT_FOUND 1 241816163 rs6429283 G T 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.03474,T/0.9653;Gene=WDR64/NM_144625.4/1;CC=c.145+232G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:375:43.22:0.00:43.22:1.00:0.00:1.00:60:70.2:0:0:70:80:25:NM_144625.4(WDR64) c.145+232G>T,NM_144625.4(WDR64) c.145+232G>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 241820180 rs199635140 G GTGTGTA 23 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5409,GTA/.,GTG/.,GTGTGTA/0.4591,GTGTGTG/.;NP=130;PC=0.002;Gene=WDR64/NM_144625.4/1;CC=c.146-3647_146-3646insATGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:G,GTGTGTA:8:5:7:0:1,7:33,212:0.00,23.23:0.00,11.91:0.00,11.31:0.00,1.00:0.00,1.00:0.00,1.00:60,70:35.0,46.7:0,0:0,0:32,33:94,118:0,26:-,NM_144625.4(WDR64) c.146-3652_146-3651insTGTGTA:-,0.68:-,NOT_FOUND 1 241820214 rs12566066 C G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1963,G/0.8037;PC=0.021;Gene=WDR64/NM_144625.4/1;CC=c.146-3618C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:3:0:0:8:277:31.52:5.97:25.55:1.00:1.00:1.00:70:49.5:0:0:66:78:13:NM_144625.4(WDR64) c.146-3618C>G,NM_144625.4(WDR64) c.146-3618C>G:0.78,0.78:NOT_FOUND,NOT_FOUND 1 241823963 . G . . NT END=241834375;NT GT ./. 1 241834479 . G . . NT END=241837945;NT GT ./. 1 241834679 rs6663921 T C,G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.008187,G/0.9918;NP=694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:18:C,G:6:0:0:0:1,5:27,176:2.40,19.59:0.00,0.00:2.40,19.59:0.00,0.99:0.00,0.00:0.00,0.99:60,60:179.0,66.2:0,0:0,0:56,84:80,61:0,55:NM_144625.4(WDR64) c.379+201T>C,NM_144625.4(WDR64) c.379+201T>G:NOT_FOUND,0.99:NOT_FOUND,NOT_FOUND 1 241838050 . G . . NT END=241842786;NT GT ./. 1 241838057 rs67170285 C T 180 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.516,T/0.484;PC=0.989;Gene=WDR64/NM_144625.4/1;CC=c.483+8C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:T:48:22:0:0:48:1576:180.49:52.28:128.21:1.00:1.00:1.00:60:71.3:0:0:102:41:22:NM_144625.4(WDR64) c.483+8C>T,NM_144625.4(WDR64) c.483+8C>T:0.49,0.49:0.5265,0.5265 1 241838065 rs66585415 T C 171 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.4319,C/0.5681;PC=0.995;Gene=WDR64/NM_144625.4/1;CC=c.483+16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:19:0:0:46:1495:171.32:43.49:127.83:1.00:1.00:1.00:60:73.6:0:0:109:37:23:NM_144625.4(WDR64) c.483+16T>C,NM_144625.4(WDR64) c.483+16T>C:0.56,0.56:0.606877,0.606877 1 241842898 . G . . NT END=241846788;NT GT ./. 1 241847004 . G . . NT END=241850762;NT GT ./. 1 241847018 rs10802979 C T 210 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=WDR64/NM_144625.4/1;CC=c.809+15C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:T:59:19:0:0:59:1819:209.89:44.83:165.07:1.00:1.00:1.00:60:43.8:0:0:104:46:31:NM_144625.4(WDR64) c.809+15C>T,NM_144625.4(WDR64) c.809+15C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 1 241847166 rs397937436 T TAC 11 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=232;PC=0.001;Gene=WDR64/NM_144625.4/1;CC=c.809+196_809+197insCA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:T,TAC:10:1:5:0:6,4:194,155:0.00,11.07:0.00,-0.20:0.00,11.27:0.00,0.82:0.00,0.58:0.00,0.98:60,60:0.0,22.5:0,1:0,0:98,83:52,68:39,22:-,NM_144625.4(WDR64) c.809+163_809+164insAC:-,NOT_FOUND:-,NOT_FOUND 1 241850606 rs541259614 TA T 9 idl,rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TA/0.7714,T/0.2286;NP=4;PC=0.134;Gene=WDR64/NM_144625.4/1;CC=c.810-140delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:TA,I,T:12:14:5:3:6,3,3:206,162,99:0.00,8.30,8.70:0.00,8.30,8.70:0.00,0.00,0.00:0.00,0.00,0.56:0.00,0.00,0.56:0.00,0.00,0.00:60,60,60:12.8,19.0,0.0:0,2,0:0,0,0:68,92,18:75,59,133:40,17,7:-,NM_144625.4(WDR64) c.810-156delA:-,NOT_FOUND:-,NOT_FOUND 1 241850898 . G . . NT END=241875103;NT GT ./. 1 241875184 . G . . NT END=241886598;NT GT ./. 1 241886430 rs12748037 C G 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7857,G/0.2143;Gene=WDR64/NM_144625.4/1;CC=c.1025-169C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:C,G:14:14:0:0:6,8:182,215:0.00,21.09:0.00,21.09:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.0,26.9:0,0:0,0:76,34:74,114:28,34:-,NM_144625.4(WDR64) c.1025-169C>G:-,0.22:-,NOT_FOUND 1 241886739 . G . . NT END=241901664;NT GT ./. 1 241886916 rs149856967 T C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;NP=9;Gene=WDR64/NM_144625.4/1;CC=c.1164+178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,T:12:0:0:0:8,4:227,128:23.14,0.00:0.00,0.00:23.14,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.6,8.0:0,0:0,0:79,74:71,76:29,15:NM_144625.4(WDR64) c.1164+178T>C,-:0.01,-:NOT_FOUND,- 1 241899157 rs10802986 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;NP=2;NP=3;Gene=WDR64/NM_144625.4/1;CC=c.1165-2508C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:4:3:0:0:1,3:34,103:0.00,10.75:0.00,3.15:0.00,7.60:0.00,0.85:0.00,0.99:0.00,0.99:60,60:59.0,66.3:0,0:0,0:13,73:137,76:0,14:-,NM_144625.4(WDR64) c.1165-2508C>G:-,NOT_FOUND:-,NOT_FOUND 1 241901402 rs10754735 T C 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5927,C/0.4073;Gene=WDR64/NM_144625.4/1;CC=c.1165-263T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:5:5:0:0:4,1:104,33:11.21,0.00:11.21,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:42.2,0.0:0,0:0,0:68,14:82,136:21,0:NM_144625.4(WDR64) c.1165-263T>C,-:0.37,-:NOT_FOUND,- 1 241901460 rs66874128 ACTG A 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=ACTG/0.5927,A/0.4073;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ACTG/0.5927,A/0.4073;NP=530;Gene=WDR64/NM_144625.4/1;CC=c.1165-199_1165-197delGCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:ACTG,A:7:7:0:3:4,3:132,97:0.00,9.06:0.00,9.06:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:19.2,19.3:0,0:0,0:40,61:110,89:35,16:-,NM_144625.4(WDR64) c.1165-204_1165-202delCTG:-,0.37:-,NOT_FOUND 1 241901792 . G . . NT END=241904817;NT GT ./. 1 241901935 rs6413961 A C 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5923,C/0.4077;Gene=WDR64/NM_144625.4/1;CC=c.1291+144A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:16:0:0:0:7,9:206,310:0.00,30.54:0.00,0.00:0.00,30.54:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.7,46.3:0,0:0,0:141,74:9,76:9,52:-,NM_144625.4(WDR64) c.1291+144A>C:-,0.37:-,NOT_FOUND 1 241904967 . G . . NT END=241907694;NT GT ./. 1 241907519 rs7411702 G A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6496,A/0.3504;Gene=WDR64/NM_144625.4/1;CC=c.1441-176G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:11,9:329,304:32.16,0.00:32.16,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:72.5,0.0:0,0:0,0:54,41:97,110:26,41:NM_144625.4(WDR64) c.1441-176G>A,-:0.33,-:NOT_FOUND,- 1 241907548 rs7418198 A C 57 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.2837,C/0.7163;PC=0.006;Gene=WDR64/NM_144625.4/1;CC=c.1441-147A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:26:0:0:9,17:286,558:0.00,56.61:0.00,54.81:0.00,1.80:0.00,1.00:0.00,1.00:0.00,0.77:60,60:2.2,63.9:0,0:0,0:37,40:113,111:20,33:-,NM_144625.4(WDR64) c.1441-147A>C:-,0.71:-,NOT_FOUND 1 241907691 rs7418599 A G 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.6496,G/0.3504;Gene=WDR64/NM_144625.4/1;CC=c.1441-4A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:84:61:0:0:52,1,31:1693,19,964:0.00,0.31,87.25:0.00,-0.17,33.20:0.00,0.48,54.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.9,130.0,41.8:0,0,0:0,0,0:89,63,61:57,87,89:33,0,37:-,NM_144625.4(WDR64) c.1441-4A>G:-,0.33:-,0.289405 1 241907817 rs10802990 T C 117 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.4091,C/0.5909;PC=0.405;Gene=WDR64/NM_144625.4/1;CC=c.1563T>C;ProtCh=p.N521=;VC=Silent;DM=WDR64/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:50:0:0:38,50:1250,1655:116.99,0.00:55.03,0.00:61.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,4.4:0,0:0,0:80,76:64,62:32,28:NM_144625.4(WDR64) c.1563T>C (p.(=)),-:0.56,-:0.608488,- 1 241907819 . G . . NT END=241912848;NT GT ./. 1 241912674 rs6669629 A C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2841,C/0.7159;Gene=WDR64/NM_144625.4/1;CC=c.1565-175A>C;VC=Intron;DM=WDR64/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C:13:13:0:0:7,6:225,190:0.00,17.96:0.00,17.96:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:4.4,42.2:0,0:0,0:46,33:105,117:24,15:-,NM_144625.4(WDR64) c.1565-175A>C:-,0.71:-,NOT_FOUND 1 241913025 . G . . NT END=241920584;NT GT ./. 1 241913062 rs78674179 C CT 89 nt VT=INS;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.391,CT/0.609,CTT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2897;Gene=WDR64/NM_144625.4/1;CC=c.1740+43dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT:74:26:30:0:42,2,30:1386,47,960:0.00,2.06,89.08:0.00,-0.09,22.76:0.00,2.15,66.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.7,46.0,3.4:1,1,0:0,0,0:108,17,99:42,133,43:34,15,19:-,NM_144625.4(WDR64) c.1740+38_1740+39insT:-,0.6:-,0.640415 1 241913224 rs10926563 G C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4589,C/0.5411;Gene=WDR64/NM_144625.4/1;CC=c.1740+200G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,G:11:0:0:0:5,6:141,197:13.19,0.00:0.00,0.00:13.19,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:37.2,10.3:0,0:0,0:116,109:35,41:25,35:NM_144625.4(WDR64) c.1740+200G>C,-:0.55,-:NOT_FOUND,- 1 241913299 rs10926564 A T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.511,T/0.489;PC=0.001;Gene=WDR64/NM_144625.4/1;CC=c.1740+275A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,T:5:0:0:0:2,3:67,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,39.3:0,0:0,0:113,70:37,81:1,11:-,NM_144625.4(WDR64) c.1740+275A>T:-,0.5:-,NOT_FOUND 1 241920762 . G . . NT END=241929519;NT GT ./. 1 241929654 . G . . NT END=241932705;NT GT ./. 1 241932567 rs56396922 C G 9 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.522,G/0.478;Gene=WDR64/NM_144625.4/1;CC=c.2052-139C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,G:11:11:0:0:8,3:249,103:0.00,8.94:0.00,8.94:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:14.2,55.7:0,0:0,0:47,145:104,6:21,0:-,NM_144625.4(WDR64) c.2052-139C>G:-,0.49:-,NOT_FOUND 1 241932808 . G . . NT END=241933922;NT GT ./. 1 241933876 rs11809239 A G 72 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5142,G/0.4858;Gene=WDR64/NM_144625.4/1;CC=c.2154-47A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:39:0:0:20,23:654,740:0.00,72.06:0.00,50.96:0.00,21.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,38.8:0,0:0,0:46,52:104,93:24,43:-,NM_144625.4(WDR64) c.2154-47A>G:-,0.49:-,NOT_FOUND 1 241933993 . G . . NT END=241934962;NT GT ./. 1 241934933 . A G 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;PC=0.392;Gene=WDR64/NM_144625.4/1;CC=c.2224-30A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:26:0:0:20,14:685,434:0.00,40.07:0.00,21.06:0.00,19.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,31.7:0,0:0,0:68,47:75,103:26,29:-,NM_144625.4(WDR64) c.2224-30A>G:-,NOT_FOUND:-,NOT_FOUND 1 241935000 . G . . NT END=241936093;NT GT ./. 1 241935987 rs35632793 AC A 78 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=AC/0.7055,A/0.2945;NP=286;PC=0.005;Gene=WDR64/NM_144625.4/1;CC=c.2261-106delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:42:41:0:25:17,25:534,788:0.00,78.42:0.00,74.65:0.00,3.77:0.00,1.00:0.00,1.00:0.00,1.00:60,70:1.8,6.3:0,0:0,0:56,49:94,101:36,31:-,NM_144625.4(WDR64) c.2261-106delC:-,0.29:-,NOT_FOUND 1 241936234 . G . . NT END=241938406;NT GT ./. 1 241938513 . G . . NT END=241943305;NT GT ./. 1 241938718 rs9428515 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7208,G/0.2792;Gene=WDR64/NM_144625.4/1;CC=c.2506+206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:0:0:0:3,2:76,71:0.00,6.60:0.00,0.00:0.00,6.60:0.00,0.46:0.00,0.00:0.00,0.46:60,60:8.7,38.0:0,0:0,0:101,116:50,34:13,16:-,NM_144625.4(WDR64) c.2506+206A>G:-,0.28:-,NOT_FOUND 1 241943365 . G . . NT END=241946573;NT GT ./. 1 241946684 . G . . NT END=241951150;NT GT ./. 1 241946766 rs953597 A C 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4906,C/0.5094;Gene=WDR64/NM_144625.4/1;CC=c.2675+83A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,C:18:0:0:0:6,12:198,303:0.00,30.94:0.00,0.00:0.00,30.94:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.3,40.7:0,0:0,0:107,131:43,19:19,15:-,NM_144625.4(WDR64) c.2675+83A>C:-,0.52:-,NOT_FOUND 1 241951034 rs6429312 C T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5805,T/0.4195;Gene=WDR64/NM_144625.4/1;CC=c.2676-117C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:C,T:12:12:0:0:8,4:241,116:0.00,10.18:0.00,10.18:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:10.8,58.5:0,0:0,0:38,91:113,58:24,14:-,NM_144625.4(WDR64) c.2676-117C>T:-,0.43:-,NOT_FOUND 1 241951106 rs6429313 A G 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5807,G/0.4193;PC=0.001;Gene=WDR64/NM_144625.4/1;CC=c.2676-45A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:31:0:0:18,16:586,506:0.00,48.02:0.00,30.75:0.00,17.27:0.00,1.00:0.00,1.00:0.00,0.99:60,60:12.3,37.7:0,0:0,0:65,36:85,110:34,14:-,NM_144625.4(WDR64) c.2676-45A>G:-,0.42:-,0.39774 1 241951337 . G . . NT END=241953892;NT GT ./. 1 241951473 rs7533622 A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5819,G/0.4181;Gene=WDR64/NM_144625.4/1;CC=c.2861+137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:0:0:0:8,6:228,204:0.00,19.13:0.00,0.00:0.00,19.13:0.00,0.96:0.00,0.00:0.00,0.96:60,60:7.1,34.0:0,0:0,0:100,123:41,27:28,24:-,NM_144625.4(WDR64) c.2861+137A>G:-,0.42:-,NOT_FOUND 1 241953999 . G . . NT END=241958508;NT GT ./. 1 241954005 rs563076142 TA T 34 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=29;PC=0.168;Gene=WDR64/NM_144625.4/1;CC=c.2967+25delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:39:24:1:16:24,1,14:692,25,404:0.00,1.13,33.65:0.00,-0.13,9.88:0.00,1.26,23.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:19.2,11.0,24.1:0,0,1:0,0,0:118,9,96:19,140,44:19,0,23:-,NM_144625.4(WDR64) c.2967+8delA:-,NOT_FOUND:-,NOT_FOUND 1 241958401 rs146518112 C CTTGT 24 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7057,CTTGT/0.2943;NP=864;PC=0.001;Gene=WDR64/NM_144625.4/1;CC=c.2968-106_2968-105insGTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CTTGT:28:28:9:0:18,1,9:564,18,276:0.00,0.60,24.43:0.00,0.60,24.43:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:0.7,97.0,41.2:0,0,0:0,0,0:28,38,63:120,113,87:22,0,36:-,NM_144625.4(WDR64) c.2968-108_2968-107insTTGT:-,0.3:-,NOT_FOUND 1 241958409 rs55865277 C T 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7061,T/0.2939;Gene=WDR64/NM_144625.4/1;CC=c.2968-100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:33:0:0:19,14:615,450:0.00,41.92:0.00,41.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.6,41.9:0,0:0,0:31,37:119,113:18,29:-,NM_144625.4(WDR64) c.2968-100C>T:-,0.3:-,NOT_FOUND 1 241958590 . G . . NT END=241959558;NT GT ./. 1 241959673 . G . . NT END=241964433;NT GT ./. 1 241959794 rs5782206 CT C 12 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CT/0.5381,C/0.4619;DB;DBA=NA;PAF=CT/0.5381,C/0.4619;NP=92;PC=0.005;Gene=WDR64/NM_144625.4/1;CC=c.3162+136delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:CT,I,C:13:1:1:5:7,1,5:228,33,133:0.00,2.42,12.13:0.00,-0.02,-0.11:0.00,2.44,12.23:0.00,0.00,0.91:0.00,0.00,0.59:0.00,0.00,0.91:60,60,60:37.4,0.0,48.4:0,0,0:0,0,0:136,130,85:14,21,66:9,0,11:-,NM_144625.4(WDR64) c.3162+123delT:-,NOT_FOUND:-,NOT_FOUND 1 241964234 rs9428520 C T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7232,T/0.2768;Gene=WDR64/NM_144625.4/1;CC=c.3163-200C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,T:8:8:0:0:4,4:134,132:0.00,12.70:0.00,12.70:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:32.5,40.8:0,0:0,0:48,78:102,72:25,16:-,NM_144625.4(WDR64) c.3163-200C>T:-,0.28:-,NOT_FOUND 1 241964518 . G . . NT END=242013727;NT GT ./. 1 241964559 rs4658661 C T 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=WDR64/NM_144625.4/1;CC=c.*42C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:17:0:0:15,19:406,595:0.00,58.45:0.00,21.51:0.00,36.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,42.2:0,0:0,0:113,110:37,36:17,27:-,NM_144625.4(WDR64) c.*42C>T:-,0.44:-,0.469014 1 241970202 rs71174857 TAC T 6 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=67;PC=0.001;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:TAC,T:3:3:0:4:1,2:27,128:0.00,6.44:0.00,-0.22:0.00,6.66:0.00,0.46:0.00,0.80:0.00,0.87:60,60:0.0,0.0:0,2:0,0:150,51:1,79:0,19:-,chr1 g.241970203_241970204delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 242013581 . C CA 8 rn VT=INS;SST=Single;DP=13;NP=7;PC=0.021;Gene=EXO1/NM_130398.3/1;CC=c.-17-115_-17-114insA;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.-17-115_-17-114insA;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.-17-115_-17-114insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,CA,D:13:13:3:1:9,3,1:310,96,24:0.00,8.10,1.46:0.00,8.10,1.46:0.00,0.00,0.00:0.00,0.58,0.00:0.00,0.58,0.00:0.00,0.00,0.00:60,60,60:21.4,17.3,50.0:0,0,0:0,0,0:51,7,3:99,144,148:44,4,0:-,NM_130398.3(EXO1) c.-17-130_-17-129insA:-,NOT_FOUND:-,NOT_FOUND 1 242013592 rs2286014 A AC 22 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4782,AC/0.5218;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=443;PC=0.003;Gene=EXO1/NM_130398.3/1;CC=c.-17-119_-17-118insC;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.-17-119_-17-118insC;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.-17-119_-17-118insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,C,AC:16:16:7:0:7,2,7:218,65,226:0.00,5.24,21.68:0.00,5.24,21.68:0.00,0.00,0.00:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.00:60,60,60:18.7,32.5,18.6:0,0,0:0,0,0:15,7,62:136,142,88:12,4,43:-,NM_130398.3(EXO1) c.-17-119_-17-118insC:-,NOT_FOUND:-,NOT_FOUND 1 242013889 . G . . NT END=242015593;NT GT ./. 1 242015714 . G . . NT END=242016659;NT GT ./. 1 242015820 rs2526704 A G 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2748,G/0.7252;Gene=EXO1/NM_130398.3/1;CC=c.281+107A>G;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.281+107A>G;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.281+107A>G;VC=Intron;DM=EXO1/XPG_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:A,G:16:3:0:0:6,10:157,345:0.00,34.69:0.00,3.40:0.00,31.29:0.00,1.00:0.00,0.95:0.00,1.00:60,60:7.8,37.8:0,0:0,0:119,89:30,59:29,42:-,NM_130398.3(EXO1) c.281+107A>G:-,0.7:-,NOT_FOUND 1 242016590 rs4149867 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8606,T/0.1394;Gene=EXO1/NM_130398.3/1;CC=c.282-70C>T;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.282-70C>T;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.282-70C>T;VC=Intron;DM=EXO1/XPG_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:39:0:0:17,22:543,692:0.00,68.07:0.00,50.48:0.00,17.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,38.3:0,0:0,0:24,47:127,93:14,28:-,NM_130398.3(EXO1) c.282-70C>T:-,0.14:-,NOT_FOUND 1 242016784 . G . . NT END=242020646;NT GT ./. 1 242017009 rs1635515 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3335,G/0.6665;Gene=EXO1/NM_130398.3/1;CC=c.405+226A>G;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.405+226A>G;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.405+226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:10:1:0:0:5,5:166,170:0.00,16.38:0.00,1.84:0.00,14.54:0.00,0.95:0.00,0.67:0.00,0.95:60,60:0.0,51.2:0,0:0,0:139,119:12,32:3,16:-,NM_130398.3(EXO1) c.405+226A>G:-,0.67:-,NOT_FOUND 1 242020391 rs3094880 T A 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4633,A/0.5367;Gene=EXO1/NM_130398.3/1;CC=c.406-256T>A;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.406-256T>A;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.406-256T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,T:9:9:0:0:7,2:225,59:23.77,0.00:23.77,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:100.3,33.0:0,0:0,0:35,75:116,75:4,61:NM_130398.3(EXO1) c.406-256T>A,-:0.52,-:NOT_FOUND,- 1 242020392 rs3121390 C T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4495,T/0.5505;Gene=EXO1/NM_130398.3/1;CC=c.406-255C>T;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.406-255C>T;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.406-255C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,T:9:9:0:0:2,7:60,220:0.00,23.27:0.00,23.27:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:33.0,100.3:0,0:0,0:76,36:74,115:61,4:-,NM_130398.3(EXO1) c.406-255C>T:-,0.53:-,NOT_FOUND 1 242020495 rs2995544 C T 63 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.2786,T/0.7214;Gene=EXO1/NM_130398.3/1;CC=c.406-152C>T;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.406-152C>T;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.406-152C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:31:0:0:12,19:392,629:0.00,62.98:0.00,62.98:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.7,54.5:0,0:0,0:44,48:104,102:24,37:-,NM_130398.3(EXO1) c.406-152C>T:-,0.7:-,NOT_FOUND 1 242020785 . G . . NT END=242021807;NT GT ./. 1 242022021 . G . . NT END=242023818;NT GT ./. 1 242022130 rs2526699 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2752,C/0.7248;Gene=EXO1/NM_130398.3/1;CC=c.756+110T>C;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.756+110T>C;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.756+110T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:0:0:0:6,7:203,233:19.27,0.00:0.00,0.00:19.27,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:49.3,1.6:0,0:0,0:72,60:77,91:14,30:NM_130398.3(EXO1) c.756+110T>C,-:0.7,-:NOT_FOUND,- 1 242024007 . G . . NT END=242024707;NT GT ./. 1 242024245 rs1776131 T A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2718,A/0.7282;Gene=EXO1/NM_130398.3/1;CC=c.944+239T>A;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.944+239T>A;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.944+239T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,T:6:0:0:0:4,2:107,61:10.90,0.00:0.00,0.00:10.90,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:47.0,5.0:0,0:0,0:127,118:21,31:3,2:NM_130398.3(EXO1) c.944+239T>A,-:0.71,-:NOT_FOUND,- 1 242024500 rs1635512 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3337,T/0.6663;Gene=EXO1/NM_130398.3/1;CC=c.945-208C>T;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.945-208C>T;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.945-208C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:5:5:0:0:2,3:63,99:0.00,9.87:0.00,9.87:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:16.0,59.7:0,0:0,0:5,46:145,104:5,24:-,NM_130398.3(EXO1) c.945-208C>T:-,0.67:-,NOT_FOUND 1 242024805 . G . . NT END=242030131;NT GT ./. 1 242030151 rs735943 A G 58 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.363,G/0.637;PC=0.989;Gene=EXO1/NM_130398.3/1;CC=c.1061A>G;ProtCh=p.H354R;VC=Missense;Gene=EXO1/NM_003686.4/0;CC=c.1061A>G;ProtCh=p.H354R;VC=Missense;Gene=EXO1/NM_006027.4/0;CC=c.1061A>G;ProtCh=p.H354R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:43:38:0:0:22,20,1:724,612,13:0.00,58.02,0.14:0.00,39.49,0.18:0.00,18.52,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.0,31.5,24.0:0,0,0:0,0,0:59,60,131:75,87,19:35,34,0:-,NM_130398.3(EXO1) c.1061A>G (p.His354Arg):-,0.65:-,0.56743 1 242030358 . G . . NT END=242035333;NT GT ./. 1 242035438 rs4149965 G A 85 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.9101,A/0.08986,T/.;PC=0.013;Gene=EXO1/NM_130398.3/1;CC=c.1372G>A;ProtCh=p.V458M;VC=Missense;Gene=EXO1/NM_003686.4/0;CC=c.1372G>A;ProtCh=p.V458M;VC=Missense;Gene=EXO1/NM_006027.4/0;CC=c.1372G>A;ProtCh=p.V458M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:49:0:0:28,43:924,1406:85.10,0.00:38.28,0.00:46.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,8.1:0,0:0,0:82,61:64,80:31,24:NM_130398.3(EXO1) c.1372G>A (p.Val458Met),-:0.12,-:0.174458,- 1 242035581 . G . . NT END=242042050;NT GT ./. 1 242035722 rs851780 G A 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3071,A/0.6929;PC=0.003;Gene=EXO1/NM_130398.3/1;CC=c.1514+142G>A;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.1514+142G>A;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.1514+142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:A,G:14:1:0:0:9,5:297,160:30.03,0.00:2.28,0.00:27.75,0.00:1.00,0.00:0.76,0.00:1.00,0.00:60,60:36.3,0.0:0,0:0,0:125,131:26,20:24,17:NM_130398.3(EXO1) c.1514+142G>A,-:0.66,-:NOT_FOUND,- 1 242041933 rs1776147 A G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3552,G/0.6448;Gene=EXO1/NM_130398.3/1;CC=c.1515-118A>G;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.1515-118A>G;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.1515-118A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:23:0:0:11,12:318,401:0.00,38.90:0.00,38.90:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.4,42.2:0,0:0,0:61,43:90,107:23,27:-,NM_130398.3(EXO1) c.1515-118A>G:-,0.64:-,NOT_FOUND 1 242042301 rs1047840 G A 271 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.6484,A/0.3516;PC=0.011;Gene=EXO1/NM_130398.3/1;CC=c.1765G>A;ProtCh=p.E589K;VC=Missense;Gene=EXO1/NM_003686.4/0;CC=c.1765G>A;ProtCh=p.E589K;VC=Missense;Gene=EXO1/NM_006027.4/0;CC=c.1765G>A;ProtCh=p.E589K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:50:0:0:76:2349:271.02:152.45:118.57:1.00:1.00:1.00:60:39.3:0:0:75:73:35:NM_130398.3(EXO1) c.1765G>A (p.Glu589Lys),NM_130398.3(EXO1) c.1765G>A (p.Glu589Lys):0.36,0.36:0.408734,0.408734 1 242042545 rs1776148 A G 288 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.3181,G/0.6819;Gene=EXO1/NM_130398.3/1;CC=c.2009A>G;ProtCh=p.E670G;VC=Missense;Gene=EXO1/NM_003686.4/0;CC=c.2009A>G;ProtCh=p.E670G;VC=Missense;Gene=EXO1/NM_006027.4/0;CC=c.2009A>G;ProtCh=p.E670G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:38:0:0:83:2492:288.47:105.03:183.44:1.00:1.00:1.00:60:37.2:0:0:69:79:42:NM_130398.3(EXO1) c.2009A>G (p.Glu670Gly),NM_130398.3(EXO1) c.2009A>G (p.Glu670Gly):0.71,0.71:0.655005,0.655005 1 242042646 . G . . NT END=242045217;NT GT ./. 1 242042690 rs1418760 A G 92 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.2698,G/0.7302;Gene=EXO1/NM_130398.3/1;CC=c.2109+45A>G;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.2109+45A>G;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.2109+45A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:4:0:0:25:806:92.49:11.33:81.16:1.00:1.00:1.00:60:41.0:0:0:85:66:29:NM_130398.3(EXO1) c.2109+45A>G,NM_130398.3(EXO1) c.2109+45A>G:0.75,0.75:0.778396,0.778396 1 242045275 rs1635498 C T 104 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.08466,T/0.9153;PC=0.032;Gene=EXO1/NM_130398.3/1;CC=c.2167C>T;ProtCh=p.R723C;VC=Missense;Gene=EXO1/NM_003686.4/0;CC=c.2167C>T;ProtCh=p.R723C;VC=Missense;Gene=EXO1/NM_006027.4/0;CC=c.2167C>T;ProtCh=p.R723C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:20:0:0:28:911:104.44:50.28:54.16:1.00:1.00:1.00:60:36.7:0:0:85:57:25:NM_130398.3(EXO1) c.2167C>T (p.Arg723Cys),NM_130398.3(EXO1) c.2167C>T (p.Arg723Cys):0.92,0.92:0.945197,0.945197 1 242045320 . G . . NT END=242048615;NT GT ./. 1 242048365 rs1635490 G C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.02256,C/0.9774;Gene=EXO1/NM_130398.3/1;CC=c.2212-251G>C;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.2212-251G>C;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.2212-251G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:84:10.24:10.24:0.00:1.00:1.00:0.00:60:99.5:0:0:19:125:7:NM_130398.3(EXO1) c.2212-251G>C,NM_130398.3(EXO1) c.2212-251G>C:0.96,0.96:NOT_FOUND,NOT_FOUND 1 242048464 rs1635489 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.08446,A/0.9155;PC=0.010;Gene=EXO1/NM_130398.3/1;CC=c.2212-152G>A;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.2212-152G>A;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.2212-152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:293:34.04:34.04:0.00:1.00:1.00:0.00:60:81.3:0:0:51:99:30:NM_130398.3(EXO1) c.2212-152G>A,NM_130398.3(EXO1) c.2212-152G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 242048514 rs71570909 G GTAAA 46 idl,nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.7246,A/0.2754;DB;DBA=NA;PAF=G/0.6104,GTAAA/.,GTAAATAAA/0.3896,GTAAATAAATAAA/.;DB;DBA=NA;PAF=G/0.994,GTAAA/.,GTAAATAAA/.,GTAAATAAATAAA/.,GTAAATAAATAAATAAA/0.00599;NP=69;PC=0.005;Gene=EXO1/NM_130398.3/1;CC=c.2212-79_2212-78insATAA;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.2212-79_2212-78insATAA;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.2212-79_2212-78insATAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,G,GTAAA:15:17:15:0:1,1,13:32,29,469:2.42,0.00,46.16:2.42,0.00,46.16:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,36,60:60.0,240.0,23.4:0,0,2:0,0,0:5,141,44:146,9,106:0,0,23:NM_130398.3(EXO1) c.2212-102_2212-101insTAAA,NM_130398.3(EXO1) c.2212-102_2212-101insTAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 242048810 . G . . NT END=242052766;NT GT ./. 1 242052621 rs4150018 T G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5938,G/0.4062;Gene=EXO1/NM_130398.3/1;CC=c.2406-146T>G;VC=Intron;Gene=EXO1/NM_003686.4/0;CC=c.2406-148T>G;VC=Intron;Gene=EXO1/NM_006027.4/0;CC=c.2406-146T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:G,T:12:12:0:0:6,6:155,160:14.71,0.00:14.71,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:31.3,10.2:0,0:0,0:49,52:100,97:25,29:NM_130398.3(EXO1) c.2406-146T>G,-:0.4,-:NOT_FOUND,- 1 242052903 . A . . NT END=242120987;NT GT ./. 1 242053042 rs851797 A G 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3784,G/0.6216;PC=0.571;Gene=EXO1/NM_130398.3/1;CC=c.*140A>G;VC=3UTR;Gene=EXO1/NM_003686.4/0;CC=c.*267A>G;VC=3UTR;Gene=EXO1/NM_006027.4/0;CC=c.*140A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:0:0:0:19:621:71.16:0.00:71.16:1.00:0.00:1.00:60:36.5:0:0:85:66:50:NM_130398.3(EXO1) c.*140A>G,NM_130398.3(EXO1) c.*140A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 1 242120870 rs3851307 C G 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7129,G/0.2871 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,G:14:14:0:0:6,8:171,240:0.00,23.68:0.00,23.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.7,70.0:0,0:0,0:54,28:97,121:49,17:-,chr1 g.242120869C>G (intergenic):-,0.28:-,NOT_FOUND 1 242120953 rs3851306 T C 54 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.7029,C/0.2971;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:36:0:0:18,19:566,577:54.05,0.00:52.53,0.00:1.53,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:82.3,9.7:0,0:0,0:40,27:109,124:28,17:chr1 g.242120952T>C (intergenic),-:0.29,-:NOT_FOUND,- 1 242121011 rs3862973 ATAAG A 65 PASS VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=ATAAG/0.6963,A/0.3037;DB;DBA=NA;PAF=ATAAG/0.6963,A/0.3037;NP=416;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAAG,C,A:59:55:0:23:35,1,23:1111,11,714:0.00,-0.06,65.46:0.00,-0.03,56.96:0.00,-0.03,8.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:13.0,57.0,76.7:0,0,0:0,0,0:65,12,57:86,139,94:28,0,31:-,chr1 g.242121012_242121015delTAAG (intergenic):-,0.3:-,NOT_FOUND 1 242121052 rs3851305 C G 144 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.6965,G/0.3035 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:105:96:0:0:56,49:1901,1520:0.00,143.82:0.00,112.73:0.00,31.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,76.7:0,0:0,0:40,31:110,109:20,20:-,chr1 g.242121051C>G (intergenic):-,0.3:-,NOT_FOUND 1 242121061 rs3915586 C T 146 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.6965,T/0.3035 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:115:105:0:0:62,1,52:1924,9,1555:0.00,-0.17,146.07:0.00,-0.11,108.25:0.00,-0.06,37.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.2,53.0,73.5:0,0,0:0,0,0:46,33,37:103,118,101:29,0,22:-,chr1 g.242121060C>T (intergenic):-,0.3:-,NOT_FOUND 1 242121540 rs56335758 G A 405 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=235;DB;DBA=NA;PAF=G/0.7059,A/0.2941;PC=0.879;Gene=BECN2/NM_001290693.1/1;CC=c.472G>A;ProtCh=p.E158K;VC=Missense;DM=BECN2/APG6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:235:169:0:0:130,105:4132,3312:404.99,0.00:215.87,0.00:189.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,8.9:0,0:0,0:81,57:63,87:32,34:chr1 g.242121539G>A (intergenic),-:0.3,-:NOT_FOUND,- 1 242121587 . G . . NT END=242121590;NT GT ./. 1 242121796 rs3851304 G T 300 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=G/0.7083,T/0.2917;PC=0.825;Gene=BECN2/NM_001290693.1/1;CC=c.728G>T;ProtCh=p.R243M;VC=Missense;DM=BECN2/APG6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:198:113:0:0:102,96:3218,3141:0.00,300.37:0.00,117.14:0.00,183.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,37.7:0,0:0,0:74,80:73,67:42,39:-,chr1 g.242121795G>T (intergenic):-,0.29:-,NOT_FOUND 1 242122393 . g . . NT END=242159464;NT GT ./. 1 242156729 rs28706113 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.02037,A/0.9796;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:6:0:0:8:255:29.31:18.58:10.73:1.00:1.00:1.00:60:60.8:0:0:67:83:41:chr1 g.242156728G>A (intergenic),chr1 g.242156728G>A (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 1 242156746 rs28699136 A G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8552,G/0.1448;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:12:9:0:0:7,5:228,169:0.00,15.75:0.00,10.97:0.00,4.78:0.00,0.92:0.00,0.98:0.00,0.89:60,60:24.0,75.0:0,0:0,0:33,60:118,91:25,57:-,chr1 g.242156745A>G (intergenic):-,0.15:-,NOT_FOUND 1 242156949 rs28449792 C T 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8552,T/0.1448;PC=0.192 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:15:0:0:15,9:495,283:0.00,25.71:0.00,13.41:0.00,12.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,49.6:0,0:0,0:85,83:62,68:30,13:-,chr1 g.242156948C>T (intergenic):-,0.15:-,NOT_FOUND 1 242159688 . C . . NT END=242161815;NT GT ./. 1 242161553 rs28534726 G A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1202,A/0.8798;Gene=MAP1LC3C/NM_001004343.2/1;CC=c.221+263C>T;VC=Intron;DM=MAP1LC3C/Atg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,G:7:7:0:0:5,2:141,54:14.66,0.00:12.85,0.00:1.82,0.00:0.98,0.00:0.98,0.00:0.81,0.00:60,60:79.8,22.5:0,0:0,0:75,57:75,94:56,22:NM_001004343.2(MAP1LC3C) c.221+263C>T,-:0.89,-:NOT_FOUND,- 1 242161619 rs2049067 C A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1234,A/0.8766;PC=0.010;Gene=MAP1LC3C/NM_001004343.2/1;CC=c.221+197G>T;VC=Intron;DM=MAP1LC3C/Atg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,C:11:10:0:0:6,5:202,138:19.77,0.00:18.26,0.00:1.52,0.00:0.98,0.00:1.00,0.00:0.83,0.00:60,60:78.3,9.0:0,0:0,0:67,59:83,92:30,38:NM_001004343.2(MAP1LC3C) c.221+197G>T,-:0.88,-:NOT_FOUND,- 1 242161679 rs28408563 G A 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.1302,A/0.8698;PC=0.087;Gene=MAP1LC3C/NM_001004343.2/1;CC=c.221+137C>T;VC=Intron;DM=MAP1LC3C/Atg8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:19:0:0:10,10:328,307:31.55,0.00:31.85,0.00:-0.30,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:62.5,8.9:0,0:0,0:49,43:101,108:33,21:NM_001004343.2(MAP1LC3C) c.221+137C>T,-:0.88,-:NOT_FOUND,- 1 242161923 . C . . NT END=242162077;NT GT ./. 1 242162134 . C . . NT END=242162252;NT GT ./. 1 242162386 . A . . NT END=242253155;NT GT ./. 1 242162525 rs3795639 G A 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.4375,A/0.5625;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:4:0:0:21,26:637,911:59.68,0.00:4.81,0.00:54.87,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:41.7,11.0:0,0:0,0:102,88:49,62:33,35:NM_001004343.2(MAP1LC3C) c.-75-u140C>T,-:0.56,-:NOT_FOUND,- 1 242220796 rs183682585 C G 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.9992,G/0.0007987;NP=2;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,G:27:18:0:0:20,7:661,219:0.00,18.53:0.00,9.13:0.00,9.40:0.00,0.96:0.00,0.99:0.00,0.99:60,60:8.8,33.6:0,0:0,0:107,114:27,34:14,16:-,chr1 g.242220795C>G (intergenic):-,0.0018:-,NOT_FOUND 1 242222754 rs871766 A G 204 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.3267,G/0.6733;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:G:54:25:0:0:54:1783:204.04:54.41:149.63:1.00:1.00:1.00:60:38.4:0:0:102:47:31:chr1 g.242222753A>G (intergenic),chr1 g.242222753A>G (intergenic):0.68,0.68:NOT_FOUND,NOT_FOUND 1 242222991 rs10158496 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4904,C/0.5096;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:132:15.11:7.25:7.85:1.00:1.00:1.00:60:50.5:0:0:31:119:17:chr1 g.242222990T>C (intergenic),chr1 g.242222990T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 242223343 rs10158939 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7001,A/0.2999;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,C:6:4:0:0:5,1:154,6:17.38,0.37:13.38,0.00:4.00,0.37:0.99,0.00:1.00,0.00:0.98,0.00:60,60:39.8,118.0:0,0:0,0:29,24:122,125:22,0:chr1 g.242223342G>A (intergenic),chr1 g.242223342G>A (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 1 242253413 . C . . NT END=242263969;NT GT ./. 1 242264085 . C . . NT END=242270972;NT GT ./. 1 242270805 rs34191588 T TCTC 12 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.141,TCCT/.,TCTC/0.859;NP=2405;Gene=PLD5/NM_001195811.1/0;CC=c.1053+167_1053+168insGAG;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.615+167_615+168insGAG;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.1239+167_1239+168insGAG;VC=Intron;DM=PLD5/PLDc_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,T,TCTC:10:10:4:0:1,5,4:32,175,127:2.45,0.00,11.91:2.45,0.00,11.91:0.00,0.00,0.00:0.00,0.00,0.84:0.00,0.00,0.84:0.00,0.00,0.00:60,60,60:32.0,25.6,19.8:0,0,0:0,0,0:0,50,58:150,91,92:0,19,25:-,NM_152666.2(PLD5) c.1239+167_1239+168insGAG:-,NOT_FOUND:-,NOT_FOUND 1 242271142 . C . . NT END=242277191;NT GT ./. 1 242271323 rs4658619 T G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3393,G/0.6607;Gene=PLD5/NM_001195811.1/0;CC=c.885-182A>C;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.447-182A>C;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.1071-182A>C;VC=Intron;DM=PLD5/PLDc_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:6:0:0:0:5,1:142,35:15.39,0.00:0.00,0.00:15.39,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:41.2,20.0:0,0:0,0:27,46:124,105:20,0:NM_152666.2(PLD5) c.1071-182A>C,-:0.64,-:NOT_FOUND,- 1 242277329 . C . . NT END=242287769;NT GT ./. 1 242287968 . C . . NT END=242383289;NT GT ./. 1 242295384 rs9803843 C T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.49,T/0.51;Gene=PLD5/NM_001195811.1/0;CC=c.550-7417G>A;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.112-7417G>A;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.736-7417G>A;VC=Intron;DM=PLD5/PLDc_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,100:0.00,10.45:0.00,10.45:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,59:0.0,102.7:0,0:0,0:25,86:126,65:0,0:-,NM_152666.2(PLD5) c.736-7417G>A:-,0.5:-,NOT_FOUND 1 242383017 rs1609954 C A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6222,A/0.3778;Gene=PLD5/NM_001195811.1/0;CC=c.549+273G>T;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.111+273G>T;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.735+273G>T;VC=Intron;DM=PLD5/PLDc_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:4:4:0:0:3,1:100,35:10.45,0.00:10.45,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:33.3,0.0:0,0:0,0:78,69:71,82:21,0:NM_152666.2(PLD5) c.735+273G>T,-:0.37,-:NOT_FOUND,- 1 242383170 rs5782230 T TAC 59 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.6224,TAC/0.3776;DB;DBA=NA;PAF=T/0.6224,TAC/0.3776;NP=1281;Gene=PLD5/NM_001195811.1/0;CC=c.549+118_549+119dupGT;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.111+118_111+119dupGT;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.735+118_735+119dupGT;VC=Intron;DM=PLD5/PLDc_3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAC:32:31:19:0:13,19:445,590:0.00,58.67:0.00,52.36:0.00,6.31:0.00,1.00:0.00,1.00:0.00,0.97:60,60:24.4,35.9:1,0:0,0:38,48:112,102:27,30:-,NM_152666.2(PLD5) c.735+119_735+120insGT:-,0.37:-,NOT_FOUND 1 242383201 rs1973498 T G 74 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.6222,G/0.3778;Gene=PLD5/NM_001195811.1/0;CC=c.549+89A>C;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.111+89A>C;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.735+89A>C;VC=Intron;DM=PLD5/PLDc_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:45:43:0:0:25,20:753,649:73.75,0.00:65.83,0.00:7.92,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:45.8,1.5:0,0:0,0:78,39:73,111:39,19:NM_152666.2(PLD5) c.735+89A>C,-:0.37,-:NOT_FOUND,- 1 242383418 . C . . NT END=242428638;NT GT ./. 1 242383510 rs7547029 T C 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.6224,C/0.3776;Gene=PLD5/NM_001195811.1/0;CC=c.422-93A>G;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.-17-93A>G;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.608-93A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:10:0:0:19,29:599,950:54.95,0.00:2.70,0.00:52.25,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:34.7,4.2:0,0:0,0:111,107:40,44:20,21:NM_152666.2(PLD5) c.608-93A>G,-:0.37,-:NOT_FOUND,- 1 242383608 rs113967982 TAAAAG T,TAAAAGAAAAG 15 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=42;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:16:TAAAAG,TAAAAGAAAAG,T:10:0:5:3:2,5,3:63,148,76:0.00,15.08,7.14:0.00,0.00,0.00:0.00,15.08,7.14:0.00,0.95,0.00:0.00,0.00,0.00:0.00,0.95,0.00:60,60,60:27.0,19.4,11.7:0,0,0:0,0,0:141,103,69:9,47,82:0,6,1:NM_152666.2(PLD5) c.608-196_608-192delCTTTT,NM_152666.2(PLD5) c.608-196_608-192dupCTTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 242428751 . C . . NT END=242451663;NT GT ./. 1 242451374 rs1847099 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1078,G/0.8922;Gene=PLD5/NM_001195811.1/0;CC=c.309+290T>C;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.-129-22624T>C;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.495+290T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:40.0:0:0:106:45:32:NM_152666.2(PLD5) c.495+290T>C,NM_152666.2(PLD5) c.495+290T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 1 242451833 . C . . NT END=242511400;NT GT ./. 1 242452040 rs12125208 T C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.108,C/0.892;Gene=PLD5/NM_001195811.1/0;CC=c.141-208A>G;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.-129-23290A>G;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.327-208A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:155:17.88:0.00:17.88:1.00:0.00:1.00:60:39.2:0:0:85:64:24:NM_152666.2(PLD5) c.327-208A>G,NM_152666.2(PLD5) c.327-208A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 1 242511545 . C . . NT END=242612655;NT GT ./. 1 242511556 rs564235862 AACAAAG A 196 nt VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=AACAAAG/0.3009,A/0.6991;DB;DBA=NA;PAF=AACAAAG/0.3009,A/0.6991;NP=3046;PC=0.003;Gene=PLD5/NM_001195811.1/0;CC=c.4-18_4-13delCTTTGT;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.-273-18_-273-13delCTTTGT;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.190-18_190-13delCTTTGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:AACAAAG,A:66:26:0:57:9,57:284,1802:0.00,195.93:0.00,52.74:0.00,143.19:0.00,1.00:0.00,1.00:0.00,1.00:54,62:0.0,9.4:0,0:0,0:144,100:6,48:5,25:-,NM_152666.2(PLD5) c.190-18_190-13delCTTTGT:-,0.67:-,NOT_FOUND 1 242540073 rs111742899 G A 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.9423,A/0.05771;PC=0.998;Gene=PLD5/NM_001195811.1/0;CC=c.4-28529C>T;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.-273-28529C>T;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.190-28529C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:27:27:0:0:15,11,1:487,291,21:48.26,0.00,0.99:48.26,0.00,0.99:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:43.8,13.5,246.0:0,0,0:0,0,0:45,46,103:106,105,48:31,15,0:NM_152666.2(PLD5) c.190-28529C>T,-:0.07,-:NOT_FOUND,- 1 242612419 rs141936499 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9984,T/0.001597;NP=7;PC=0.001;Gene=PLD5/NM_001195811.1/0;CC=c.3+237G>A;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.-274+237G>A;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.189+74971G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,T:7:7:0:0:3,4:77,128:0.00,12.65:0.00,12.65:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:89.3,36.2:0,0:0,0:34,54:117,96:0,9:-,NM_152666.2(PLD5) c.189+74971G>A:-,0.0041:-,NOT_FOUND 1 242612420 rs2654871 G A 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.734,A/0.266;PC=0.001;Gene=PLD5/NM_001195811.1/0;CC=c.3+236C>T;VC=Intron;Gene=PLD5/NM_001195812.1/0;CC=c.-274+236C>T;VC=Intron;Gene=PLD5/NM_152666.2/1;CC=c.189+74970C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:7:7:0:0:3,4:85,134:7.85,0.00:7.85,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:89.3,36.2:0,0:0,0:35,55:116,95:0,9:NM_152666.2(PLD5) c.189+74970C>T,-:0.3,-:NOT_FOUND,- 1 242612785 . A . . NT END=242687389;NT GT ./. 1 242687579 . C . . NT END=243289750;NT GT ./. 1 242808709 rs61297097 C CTGTGTGTG 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;NP=2;NP=28;NP=6;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,CTGTGTGTG:6:6:4:0:3,3:105,133:0.00,9.50:0.00,8.17:0.00,1.33:0.00,0.69:0.00,0.95:0.00,0.83:60,60:15.3,3.7:0,1:0,0:91,47:38,86:14,5:-,chr1 g.242808709_242808710insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 242885189 rs144780125 GCACACA G 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=76;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:5:4:122:14.11:5.52:8.59:1.00:1.00:1.00:60:11.5:0:0:49:67:16:chr1 g.242885190_242885195delCACACA (intergenic),chr1 g.242885190_242885195delCACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 243131899 rs112772294 AGT T,A 10 end,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=11;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:T,A:4:4:0:4:1,3:34,122:3.18,9.76:0.00,6.56:3.18,3.20:0.00,0.78:0.00,0.97:0.00,0.94:40,60:251.0,75.0:0,1:0,0:113,32:9,89:0,3:chr1 g.243131899_243131900delAG (intergenic),chr1 g.243131900_243131901delGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 243131903 . T A 11 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,T:4:3:0:1:3,1:102,30:10.65,0.00:9.28,0.00:1.37,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,40:26.0,251.0:2,0:0,0:30,117:121,5:6,0:chr1 g.243131902T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 243146634 rs376413185 T TAGAC 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8281,TAC/0.1719,TATAC/.;NP=1;NP=1;NP=1;NP=1;NP=11;NP=4;NP=4;NP=70;NP=97;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TAGAC:5:5:2:0:3,2:78,68:0.00,6.30:0.00,4.67:0.00,1.63:0.00,0.46:0.00,0.46:0.00,0.70:60,60:46.0,17.0:0,0:0,0:121,88:29,62:1,18:-,chr1 g.243146634_243146635insAGAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 243217078 rs3963860 G T 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.9669,A/0.03315,T/.;NP=10;NP=17;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:G,T:29:27:0:0:26,3:827,102:0.00,7.45:0.00,3.37:0.00,4.08:0.00,0.43:0.00,0.87:0.00,0.65:60,40:20.1,41.0:0,0:0,0:44,33:100,99:24,1:-,chr1 g.243217077G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 243217374 rs78598994 A G 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.366,G/0.634;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:36:0:0:40,15:1343,423:0.00,35.45:0.00,21.44:0.00,14.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.5,53.7:0,0:0,0:96,96:49,53:30,43:-,XR_132881.2(LOC100505955) n.447T>C:-,0.29:-,NOT_FOUND 1 243217395 rs71537323 A G 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.3658,G/0.6342;NP=97 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:26:0:0:32,13:1002,387:0.00,33.16:0.00,17.77:0.00,15.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,59.3:0,0:0,0:105,56:45,95:32,42:-,XR_132881.2(LOC100505955) n.426T>C:-,NOT_FOUND:-,NOT_FOUND 1 243218882 rs61833113 G A 123 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.8504,A/0.1496 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:48:0:0:38,33:1263,1025:123.13,0.00:64.24,0.00:58.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,6.2:0,0:0,0:61,74:90,72:29,41:XR_132881.2(LOC100505955) n.-1062C>T,-:0.17,-:NOT_FOUND,- 1 243219400 rs34540223 T C 129 nt VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=T/0.3666,C/0.6334 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:131:100:0:0:1,50,80:13,1431,2625:-0.12,129.19,0.00:-0.18,82.89,0.00:0.06,46.30,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,51,60:59.0,43.4,9.2:0,0,0:0,0,0:43,40,71:106,108,70:0,21,39:XR_132881.2(LOC100505955) n.-1580A>G,-:0.41,-:NOT_FOUND,- 1 243219876 . G C 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=182;PC=0.001;Gene=LINC01347/NR_029401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:182:122:0:0:1,29,151,1:8,951,4989,7:-0.30,74.46,0.00,-0.31:-0.17,65.41,0.00,-0.17:-0.13,9.05,0.00,-0.14:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,54,58,25:84.0,72.8,14.9,102.0:0,0,0,0:0,0,0,0:78,24,74,47:73,127,77,104:0,11,41,0:NR_029401.1(LOC731275) n.3574C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 243219965 rs201815804 G C 120 nt VT=SNV;PN=G;NN=A;SST=Single;DP=188;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=LINC01347/NR_029401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:188:132:0:0:42,146:1429,4731:119.60,0.00:66.97,0.00:52.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,49:56.0,12.5:0,0:0,0:92,81:58,69:22,31:NR_029401.1(LOC731275) n.3485C>G,-:NOT_FOUND,-:NOT_FOUND,- 1 243220561 rs61833114 A G 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.4864,G/0.5136;PC=0.001;Gene=LINC01347/NR_029401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:16:0:0:45,18:1519,545:0.00,46.72:0.00,4.46:0.00,42.27:0.00,1.00:0.00,0.99:0.00,1.00:53,40:11.0,57.4:0,0:0,0:87,113:64,33:30,14:-,NR_029401.1(LOC731275) n.2889T>C:-,0.23:-,NOT_FOUND 1 243220682 rs61833115 T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.068;Gene=LINC01347/NR_029401.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:G,T:21:2:0:0:3,18:101,535:7.80,0.00:-0.07,0.00:7.86,0.00:0.49,0.00:0.39,0.00:0.49,0.00:21,46:37.3,22.2:3,0:0,0:71,95:80,55:3,44:NR_029401.1(LOC731275) n.2861A>C,-:NOT_FOUND,-:NOT_FOUND,- 1 243290041 . C . . NT END=243291550;NT GT ./. 1 243291603 . C . . NT END=243292661;NT GT ./. 1 243292756 . C . . NT END=243299444;NT GT ./. 1 243299534 . C . . NT END=243303238;NT GT ./. 1 243303410 . C . . NT END=243305587;NT GT ./. 1 243305766 . C . . NT END=243319522;NT GT ./. 1 243319758 . C . . NT END=243327585;NT GT ./. 1 243327520 rs1815604 A T 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6793,T/0.3207;NP=552;PC=0.002;Gene=CEP170/NM_001042404.1/0;CC=c.3382+66T>A;VC=Intron;Gene=CEP170/NM_001042405.1/0;CC=c.3382+66T>A;VC=Intron;Gene=CEP170/NM_014812.2/1;CC=c.3676+66T>A;VC=Intron;DM=CEP170/CEP170_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:23:22:0:1:9,14:276,434:0.00,43.39:0.00,38.05:0.00,5.34:0.00,1.00:0.00,1.00:0.00,0.87:60,60:12.0,56.2:0,0:0,0:64,56:87,94:36,27:-,NM_014812.2(CEP170) c.3676+66T>A:-,NOT_FOUND:-,NOT_FOUND 1 243329419 . C . . NT END=243332929;NT GT ./. 1 243332884 rs140816120 AAG A 38 sb,nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=AAG/0.6817,A/0.3183;NP=607;Gene=CEP170/NM_001042404.1/0;CC=c.1549+44_1549+45delCT;VC=Intron;Gene=CEP170/NM_001042405.1/0;CC=c.1549+44_1549+45delCT;VC=Intron;Gene=CEP170/NM_014812.2/1;CC=c.1843+44_1843+45delCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAG,A:19:17:0:12:7,12:206,381:0.00,38.42:0.00,39.50:0.00,-1.08:0.00,1.00:0.00,1.00:0.00,0.95:42,55:6.0,3.2:1,0:0,0:56,46:95,104:31,23:-,NM_014812.2(CEP170) c.1843+44_1843+45delCT:-,0.28:-,0.310634 1 243333057 . C . . NT END=243335998;NT GT ./. 1 243336149 . C . . NT END=243349080;NT GT ./. 1 243336384 rs80029414 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6795,T/0.3205;PC=0.091;Gene=CEP170/NM_001042404.1/0;CC=c.1273-236G>A;VC=Intron;Gene=CEP170/NM_001042405.1/0;CC=c.1273-236G>A;VC=Intron;Gene=CEP170/NM_014812.2/1;CC=c.1567-236G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:12,7:325,215:0.00,19.43:0.00,0.00:0.00,19.43:0.00,0.98:0.00,0.00:0.00,0.98:60,60:17.0,67.7:0,0:0,0:105,111:45,40:41,19:-,NM_014812.2(CEP170) c.1567-236G>A:-,0.29:-,NOT_FOUND 1 243349375 . C . . NT END=243349560;NT GT ./. 1 243349725 . C . . NT END=243354319;NT GT ./. 1 243354791 rs144272877 C T 23 lc VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CEP170/NM_001042404.1/0;CC=c.637G>A;ProtCh=p.G213S;VC=Missense;Gene=CEP170/NM_001042405.1/0;CC=c.637G>A;ProtCh=p.G213S;VC=Missense;Gene=CEP170/NM_014812.2/1;CC=c.637G>A;ProtCh=p.G213S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:16:0:0:28,8:797,276:0.00,23.15:0.00,9.45:0.00,13.70:0.00,0.98:0.00,0.96:0.00,1.00:60,40:8.5,34.5:0,0:0,0:87,78:42,72:22,18:-,NM_014812.2(CEP170) c.637G>A (p.Gly213Ser):-,0.8:-,NOT_FOUND 1 243354797 . C . . NT END=243362361;NT GT ./. 1 243362331 rs2789172 C T 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.118,T/0.882;Gene=CEP170/NM_001042404.1/0;CC=c.631+31G>A;VC=Intron;Gene=CEP170/NM_001042405.1/0;CC=c.631+31G>A;VC=Intron;Gene=CEP170/NM_014812.2/1;CC=c.631+31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:31:0:0:17,18:570,597:0.00,57.76:0.00,46.85:0.00,10.90:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.9,39.8:0,0:0,0:52,34:99,115:32,20:-,NM_014812.2(CEP170) c.631+31G>A:-,0.8:-,NOT_FOUND 1 243362497 . C . . NT END=243363819;NT GT ./. 1 243363983 . C . . NT END=243364078;NT GT ./. 1 243364138 . G . . NT END=243375187;NT GT ./. 1 243364297 rs11580082 G A 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6833,A/0.3167;NP=458;Gene=CEP170/NM_001042404.1/0;CC=c.277-162C>T;VC=Intron;Gene=CEP170/NM_001042405.1/0;CC=c.277-162C>T;VC=Intron;Gene=CEP170/NM_014812.2/1;CC=c.277-162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:15:0:0:0:12,3:378,91:40.23,0.00:0.00,0.00:40.23,0.00:1.00,0.00:0.00,0.00:1.00,0.00:56,55:37.6,66.3:0,0:0,0:97,102:53,49:25,35:NM_014812.2(CEP170) c.275-160C>T,-:NOT_FOUND,-:NOT_FOUND,- 1 243375267 . C . . NT END=243385025;NT GT ./. 1 243385116 . C . . NT END=243388477;NT GT ./. 1 243385307 rs6662118 A G 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5254,G/0.4746;PC=0.006;Gene=CEP170/NM_001042404.1/0;CC=c.106-192T>C;VC=Intron;Gene=CEP170/NM_001042405.1/0;CC=c.106-192T>C;VC=Intron;Gene=CEP170/NM_014812.2/1;CC=c.106-192T>C;VC=Intron;DM=CEP170/FHA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:8:0:0:0:3,5:92,154:0.00,15.47:0.00,0.00:0.00,15.47:0.00,0.97:0.00,0.00:0.00,0.97:60,60:11.7,44.8:0,0:0,0:64,64:87,87:8,55:-,NM_014812.2(CEP170) c.106-192T>C:-,0.41:-,NOT_FOUND 1 243388370 rs10926973 A T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5747,T/0.4253;Gene=CEP170/NM_001042404.1/0;CC=c.105+108T>A;VC=Intron;Gene=CEP170/NM_001042405.1/0;CC=c.105+108T>A;VC=Intron;Gene=CEP170/NM_014812.2/1;CC=c.105+108T>A;VC=Intron;DM=CEP170/FHA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:21:21:0:0:12,9:382,267:0.00,24.76:0.00,24.76:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.6,32.6:0,0:0,0:34,32:116,118:21,10:-,NM_014812.2(CEP170) c.105+108T>A:-,0.37:-,NOT_FOUND 1 243388583 . T . . NT END=243419475;NT GT ./. 1 243419544 . T . . NT END=243433393;NT GT ./. 1 243419706 rs61833906 T C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.9309,C/0.06909;PC=0.005;Gene=SDCCAG8/NM_006642.3/1;CC=c.67+164T>C;VC=Intron;DM=SDCCAG8/CCCAP;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:0:0:0:8,11:258,361:24.00,0.00:0.00,0.00:24.00,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:49.8,6.0:0,0:0,0:123,114:27,37:16,27:NM_006642.3(SDCCAG8) c.67+164T>C,-:0.07,-:NOT_FOUND,- 1 243433561 . T . . NT END=243434279;NT GT ./. 1 243433654 rs2275154 A G 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7131,G/0.2869;Gene=SDCCAG8/NM_006642.3/1;CC=c.220+95A>G;VC=Intron;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:0:0:0:14,14:437,473:0.00,45.56:0.00,0.00:0.00,45.56:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.6,34.5:0,0:0,0:110,94:41,56:19,41:-,NM_006642.3(SDCCAG8) c.220+95A>G:-,0.24:-,NOT_FOUND 1 243434367 . T . . NT END=243437844;NT GT ./. 1 243437960 . T . . NT END=243449573;NT GT ./. 1 243449701 . T . . NT END=243456392;NT GT ./. 1 243456522 . G . . NT END=243468014;NT GT ./. 1 243468080 . G . . NT END=243470654;NT GT ./. 1 243470815 rs147089981 T G 64 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.9946,G/0.005391;NP=27;PC=0.002;Gene=SDCCAG8/NM_006642.3/1;CC=c.741-476T>G;VC=Intron;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:51:41:0:0:20,31:692,952:63.93,0.00:43.38,0.00:20.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,12.3:0,0:0,0:84,73:66,74:20,42:NM_006642.3(SDCCAG8) c.741-476T>G,-:0.01,-:NOT_FOUND,- 1 243471186 . G . . NT END=243471290;NT GT ./. 1 243471480 . G . . NT END=243480056;NT GT ./. 1 243480197 . C . . NT END=243481804;NT GT ./. 1 243481825 . T . . NT END=243493841;NT GT ./. 1 243493907 rs2275155 A T 95 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.7286,T/0.2714;PC=0.996;Gene=SDCCAG8/NM_006642.3/1;CC=c.1134A>T;ProtCh=p.E378D;VC=Missense;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:61:47:0:0:30,31:956,990:0.00,95.43:0.00,63.21:0.00,32.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,42.8:0,0:0,0:85,55:63,95:29,35:-,NM_006642.3(SDCCAG8) c.1134A>T (p.Glu378Asp):-,0.23:-,0.268184 1 243493996 . T . . NT END=243504340;NT GT ./. 1 243504108 rs2256126 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7562,G/0.2438;Gene=SDCCAG8/NM_006642.3/1;CC=c.1222-233A>G;VC=Intron;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:5:0:0:1,4:33,139:0.00,14.72:0.00,14.72:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,34.8:0,0:0,0:64,36:85,114:0,21:-,NM_006642.3(SDCCAG8) c.1222-233A>G:-,0.22:-,NOT_FOUND 1 243504477 . T . . NT END=243507516;NT GT ./. 1 243507635 . T . . NT END=243542022;NT GT ./. 1 243507680 rs398050192 C CA 18 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7622,CA/0.2378;DB;DBA=NA;PAF=C/0.7622,CA/0.2378;NP=1525;Gene=SDCCAG8/NM_006642.3/1;CC=c.1473+48dupA;VC=Intron;DM=SDCCAG8/CCCAP;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,CA:16:4:6:0:10,6:322,193:0.00,17.57:0.00,-0.61:0.00,18.18:0.00,0.95:0.00,0.85:0.00,1.00:60,60:2.3,5.3:0,0:0,0:109,78:41,70:40,18:-,NM_006642.3(SDCCAG8) c.1473+47_1473+48insA:-,0.22:-,0.281754 1 243542167 . T . . NT END=243579003;NT GT ./. 1 243578812 rs10927010 G A 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9117,A/0.08826;Gene=SDCCAG8/NM_006642.3/1;CC=c.1617-192G>A;VC=Intron;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:7,9:226,286:21.18,0.00:21.18,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:38.4,8.0:0,0:0,0:37,54:114,97:21,36:NM_006642.3(SDCCAG8) c.1617-192G>A,-:0.1,-:NOT_FOUND,- 1 243579133 . T . . NT END=243581269;NT GT ./. 1 243581380 . T . . NT END=243589728;NT GT ./. 1 243589862 . T . . NT END=243639232;NT GT ./. 1 243601743 rs150276657 GCT G 13 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GCT/0.8844,G/0.1156;NP=209;Gene=SDCCAG8/NM_006642.3/1;CC=c.1985+11888_1985+11889delCT;VC=Intron;DM=SDCCAG8/CCCAP;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GCT,G:5:4:0:4:1,4:36,122:0.00,13.02:0.00,10.59:0.00,2.43:0.00,0.96:0.00,1.00:0.00,0.99:60,60:0.0,5.5:0,0:0,0:42,18:109,132:0,3:-,NM_006642.3(SDCCAG8) c.1985+11884_1985+11885delCT:-,0.12:-,NOT_FOUND 1 243601935 rs12119001 C T 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8554,T/0.1446;PC=0.036;Gene=SDCCAG8/NM_006642.3/1;CC=c.1985+12075C>T;VC=Intron;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:1:0:0:1,3:35,101:0.00,10.55:0.00,-0.60:0.00,11.16:0.00,0.85:0.00,0.83:0.00,0.99:60,60:0.0,38.0:0,0:0,0:132,121:19,30:0,8:-,NM_006642.3(SDCCAG8) c.1985+12075C>T:-,0.15:-,NOT_FOUND 1 243639018 rs2994322 G C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.2522,C/0.7478;PC=0.001;Gene=SDCCAG8/NM_006642.3/1;CC=c.1986-13298G>C;VC=Intron;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,G:9:9:0:0:6,3:183,104:18.65,0.00:18.65,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:54.3,10.0:0,0:0,0:45,24:105,127:15,15:NM_006642.3(SDCCAG8) c.1986-13298G>C,-:0.8,-:NOT_FOUND,- 1 243639667 . G . . NT END=243652315;NT GT ./. 1 243639859 rs3006916 A G 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8249,G/0.1751;Gene=SDCCAG8/NM_006642.3/1;CC=c.1986-12457A>G;VC=Intron;DM=SDCCAG8/CCCAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,G:7:0:0:0:2,5:51,165:0.00,17.07:0.00,0.00:0.00,17.07:0.00,0.98:0.00,0.00:0.00,0.98:60,60:57.0,34.4:0,0:0,0:76,108:74,42:47,12:-,NM_006642.3(SDCCAG8) c.1986-12457A>G:-,0.17:-,NOT_FOUND 1 243652444 . T . . NT END=243663057;NT GT ./. 1 243663107 . A . . NT END=243668550;NT GT ./. 1 243668637 . C . . NT END=243675625;NT GT ./. 1 243675729 . C . . NT END=243708811;NT GT ./. 1 243708900 . C . . NT END=243716030;NT GT ./. 1 243709071 rs1473466 G A 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.02776,A/0.9722;Gene=AKT3/NM_181690.2/1;CC=c.1164-172C>T;VC=Intron;Gene=AKT3/NM_005465.4/0;CC=c.1164-172C>T;VC=Intron;Gene=AKT3/NM_001206729.1/0;CC=c.1164-172C>T;VC=Intron;DM=AKT3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:301:34.39:0.00:34.39:1.00:0.00:1.00:60:33.4:0:0:93:58:29:NM_181690.2(AKT3) c.1164-172C>T,NM_181690.2(AKT3) c.1164-172C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 243716246 . C . . NT END=243727021;NT GT ./. 1 243727151 . C . . NT END=243736227;NT GT ./. 1 243736210 rs66631932 CT C 45 idl,rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=105;PC=1.000;Gene=AKT3/NM_181690.2/1;CC=c.819+17delA;VC=Intron;Gene=AKT3/NM_005465.4/0;CC=c.819+17delA;VC=Intron;Gene=AKT3/NM_001206729.1/0;CC=c.819+17delA;VC=Intron;DM=AKT3/Pkinase;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:CT,I,C:24:26:5:20:5,5,14:170,156,600:0.00,13.76,45.21:0.00,7.00,28.79:0.00,6.76,16.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.2,9.2,26.2:0,0,5:0,0,0:93,48,51:55,91,100:30,12,19:-,NM_181690.2(AKT3) c.819+17delA:-,NOT_FOUND:-,NOT_FOUND 1 243736351 . C . . NT END=243776972;NT GT ./. 1 243777042 . C . . NT END=243778397;NT GT ./. 1 243777066 rs2168812 G A 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.7502,A/0.2498;Gene=AKT3/NM_181690.2/1;CC=c.628-25C>T;VC=Intron;Gene=AKT3/NM_005465.4/0;CC=c.628-25C>T;VC=Intron;Gene=AKT3/NM_001206729.1/0;CC=c.628-25C>T;VC=Intron;DM=AKT3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:17:0:0:15,22:467,731:43.00,0.00:14.08,0.00:28.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,15.7:0,0:0,0:85,97:61,43:16,31:NM_181690.2(AKT3) c.628-25C>T,-:0.24,-:0.201963,- 1 243778464 . C . . NT END=243800912;NT GT ./. 1 243801045 . C . . NT END=243809194;NT GT ./. 1 243801190 rs10927046 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8464,C/0.1536;Gene=AKT3/NM_181690.2/1;CC=c.430-146A>G;VC=Intron;Gene=AKT3/NM_005465.4/0;CC=c.430-146A>G;VC=Intron;Gene=AKT3/NM_001206729.1/0;CC=c.430-146A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:6:0:0:0:3,3:100,92:9.63,0.00:0.00,0.00:9.63,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:52.3,0.0:0,0:0,0:90,128:60,23:8,5:NM_181690.2(AKT3) c.430-146A>G,-:0.15,-:NOT_FOUND,- 1 243809340 . C . . NT END=243828073;NT GT ./. 1 243812615 rs72185512 ATGTGTG A 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=14;PC=0.043;Gene=AKT3/NM_181690.2/1;CC=c.285-3282_285-3277delCACACA;VC=Intron;Gene=AKT3/NM_005465.4/0;CC=c.285-3282_285-3277delCACACA;VC=Intron;Gene=AKT3/NM_001206729.1/0;CC=c.285-3282_285-3277delCACACA;VC=Intron;DM=AKT3/PH;DM=AKT3/PH;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:ATGTGTG,A:5:5:0:5:1,4:33,155:0.00,13.03:0.00,7.87:0.00,5.15:0.00,0.93:0.00,0.99:0.00,0.99:60,60:34.0,70.0:0,1:0,0:122,32:29,108:0,10:-,NM_181690.2(AKT3) c.285-3282_285-3277delCACACA:-,NOT_FOUND:-,NOT_FOUND 1 243812659 rs7514202 G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2917,A/0.7083;PC=0.036;Gene=AKT3/NM_181690.2/1;CC=c.285-3320C>T;VC=Intron;Gene=AKT3/NM_005465.4/0;CC=c.285-3320C>T;VC=Intron;Gene=AKT3/NM_001206729.1/0;CC=c.285-3320C>T;VC=Intron;DM=AKT3/PH;DM=AKT3/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:163:18.68:7.45:11.23:1.00:1.00:1.00:60:47.0:0:0:63:70:13:NM_181690.2(AKT3) c.285-3320C>T,NM_181690.2(AKT3) c.285-3320C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 1 243828186 . C . . NT END=243858892;NT GT ./. 1 243828306 rs167661 T A 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=AKT3/NM_181690.2/1;CC=c.173-121A>T;VC=Intron;Gene=AKT3/NM_005465.4/0;CC=c.173-121A>T;VC=Intron;Gene=AKT3/NM_001206729.1/0;CC=c.173-121A>T;VC=Intron;DM=AKT3/PH;DM=AKT3/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:242:27.98:0.00:27.98:1.00:0.00:1.00:60:43.2:0:0:120:29:17:NM_181690.2(AKT3) c.173-121A>T,NM_181690.2(AKT3) c.173-121A>T:0.81,0.81:NOT_FOUND,NOT_FOUND 1 243859019 . C . . NT END=244006426;NT GT ./. 1 244006585 . C . . NT END=244006845;NT GT ./. 1 244006887 . G . . NT END=244013341;NT GT ./. 1 244013361 . g . . NT END=244214679;NT GT ./. 1 244013405 . C CG 6 rn VT=INS;SST=Single;DP=25;NP=3;PC=0.986;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:C,G,CG:25:15:3:0:20,2,3:562,27,88:0.00,0.84,6.37:0.00,-0.49,2.11:0.00,1.33,4.25:0.00,0.00,0.46:0.00,0.00,0.77:0.00,0.00,0.68:60,60,60:20.0,75.0,79.7:0,0,0:0,0,0:119,51,88:27,91,47:25,18,12:-,NM_181690.2(AKT3) c.-112-u6822_-112-u6821insC:-,NOT_FOUND:-,NOT_FOUND 1 244013597 rs34490111 A AGGC 15 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5885,AGGC/0.4115,AGGCGGC/.;NP=1;NP=70;PC=1.000;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:A,AGGC:15:12:5:0:10,5:316,163:0.00,14.54:0.00,10.81:0.00,3.74:0.00,0.89:0.00,0.98:0.00,0.98:60,60:6.3,4.8:0,0:0,0:28,34:82,117:18,23:-,NM_181690.2(AKT3) c.-112-u7014_-112-u7013insGCC:-,NOT_FOUND:-,NOT_FOUND 1 244214800 . A . . NT END=244217017;NT GT ./. 1 244218691 rs112455960 AAT A 7 rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ZBTB18/NM_001278196.1/0;CC=c.*33_*34delTA;VC=3UTR;Gene=ZBTB18/NM_205768.2/1;CC=c.*33_*34delTA;VC=3UTR;Gene=ZBTB18/NM_006352.4/0;CC=c.*33_*34delTA;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:AAT,T,I,A:41:11:1:3:36,1,1,3:1137,10,33,97:0.00,-0.17,1.78,6.54:0.00,-0.07,-0.07,-0.21:0.00,-0.10,1.85,6.76:0.00,0.00,0.00,0.36:0.00,0.00,0.00,0.49:0.00,0.00,0.00,0.85:60,60,60,60:20.4,41.0,0.0,3.3:0,0,0,0:0,0,0,0:88,3,69,108:61,148,81,43:32,0,0,4:-,NM_205768.2(ZNF238) c.*21TA[6]:-,NOT_FOUND:-,0.0581 1 244218697 . t . . NT END=244528002;NT GT ./. 1 244489421 . G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;PC=0.044 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:4:2:0:1:2,2:68,70:6.55,0.00:3.53,0.00:3.02,0.00:0.94,0.00:0.79,0.00:0.89,0.00:60,60:52.0,54.0:2,1:0,0:101,55:48,83:1,21:chr1 g.244489420G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 244489422 . T A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=0.060 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,T:4:2:0:1:2,2:70,69:6.75,0.00:3.43,0.00:3.32,0.00:0.94,0.00:0.79,0.00:0.89,0.00:60,60:52.0,54.0:2,1:0,0:102,56:47,82:1,21:chr1 g.244489421T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 244489457 rs61121147 G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9079,A/0.09205;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:7:3:0:0:4,3:134,102:13.23,0.00:6.98,0.00:6.25,0.00:0.90,0.00:0.93,0.00:0.98,0.00:60,60:60.0,36.0:0,0:0,0:137,70:12,58:2,43:chr1 g.244489456G>A (intergenic),-:0.25,-:NOT_FOUND,- 1 244523811 rs558110743 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.011;Gene=C1orf100/NM_001012970.2/0;CC=c.-13-4179T>C;VC=Intron;Gene=C1orf100/NM_001276348.1/1;CC=c.-13-4179T>C;VC=Intron;Gene=C1orf100/NM_001276349.1/0;CC=c.-13-4179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:168:19.18:7.85:11.33:1.00:1.00:1.00:60:56.8:0:0:36:110:3:NM_001012970.1(C1orf100) c.-13-4179T>C,NM_001012970.1(C1orf100) c.-13-4179T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 244527857 rs10927214 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.747,C/0.253;Gene=C1orf100/NM_001012970.2/0;CC=c.-13-133T>C;VC=Intron;Gene=C1orf100/NM_001276348.1/1;CC=c.-13-133T>C;VC=Intron;Gene=C1orf100/NM_001276349.1/0;CC=c.-13-133T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,T:9:9:0:0:3,6:93,171:8.24,0.00:8.24,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:60,60:39.3,22.8:0,0:0,0:82,56:65,94:17,37:NM_001012970.1(C1orf100) c.-13-133T>C,-:0.28,-:NOT_FOUND,- 1 244528059 . G . . NT END=244538673;NT GT ./. 1 244528127 rs9782996 T C 90 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.2099,C/0.7901;Gene=C1orf100/NM_001012970.2/0;CC=c.56+69T>C;VC=Intron;Gene=C1orf100/NM_001276348.1/1;CC=c.56+69T>C;VC=Intron;Gene=C1orf100/NM_001276349.1/0;CC=c.56+69T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:8:0:0:24:786:89.99:19.25:70.74:1.00:1.00:1.00:60:43.8:0:0:77:73:35:NM_001012970.1(C1orf100) c.56+69T>C,NM_001012970.1(C1orf100) c.56+69T>C:0.79,0.79:0.719667,0.719667 1 244538770 . G . . NT END=244541768;NT GT ./. 1 244541942 . G . . NT END=244552252;NT GT ./. 1 244552372 . C . . NT END=244572887;NT GT ./. 1 244572941 . C . . NT END=244574588;NT GT ./. 1 244574520 rs367805844 C CA 12 idl,rn VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=64;PC=0.003;Gene=ADSS/NM_001126.3/1;CC=c.1318+68_1318+69insT;VC=Intron;DM=ADSS/Adenylsucc_synt;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,C,CA,D:43:44:6:7:1,33,5,4:9,1042,189,198:-0.16,0.00,11.92,9.77:-0.31,0.00,10.57,9.81:0.15,0.00,1.36,-0.04:0.00,0.00,0.74,0.00:0.00,0.00,0.97,0.00:0.00,0.00,0.35,0.00:60,60,60,60:9.0,17.2,9.2,1.2:0,0,1,2:0,0,0,0:30,61,58,76:97,90,93,74:0,50,16,40:-,NM_001126.3(ADSS) c.1318+68_1318+69insT:-,NOT_FOUND:-,NOT_FOUND 1 244574739 . C . . NT END=244579282;NT GT ./. 1 244579381 . C . . NT END=244580929;NT GT ./. 1 244581055 . C . . NT END=244582061;NT GT ./. 1 244582217 . C . . NT END=244583471;NT GT ./. 1 244583599 . C . . NT END=244586136;NT GT ./. 1 244583801 rs11434001 T TA 35 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1737,TA/0.8263;NP=619;Gene=ADSS/NM_001126.3/1;CC=c.664-204_664-203insT;VC=Intron;DM=ADSS/Adenylsucc_synt;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:TA:10:0:10:0:10:302:34.97:0.00:34.97:1.00:0.00:1.00:60:6.3:0:0:120:29:10:NM_001126.3(ADSS) c.664-204_664-203insT,NM_001126.3(ADSS) c.664-204_664-203insT:0.84,0.84:NOT_FOUND,NOT_FOUND 1 244586219 . C . . NT END=244587254;NT GT ./. 1 244587363 . C . . NT END=244587622;NT GT ./. 1 244587690 . C . . NT END=244595846;NT GT ./. 1 244595898 . C . . NT END=244600126;NT GT ./. 1 244595962 rs532312490 CTTT C 10 idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CTTT/0.6943,C/0.3057;PC=1.000;Gene=ADSS/NM_001126.3/1;CC=c.356-68_356-66delAAA;VC=Intron;DM=ADSS/Adenylsucc_synt;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,CTTT,C:17:6:0:8:1,12,4:8,350,195:-0.02,0.00,10.26:-0.09,0.00,1.20:0.07,0.00,9.06:0.00,0.00,0.71:0.00,0.00,0.71:0.00,0.00,0.95:60,60,70:192.0,23.2,27.2:0,0,3:0,0,0:128,130,53:18,18,92:0,8,12:-,NM_001126.3(ADSS) c.356-68_356-66delAAA:-,NOT_FOUND:-,NOT_FOUND 1 244600196 . C . . NT END=244600967;NT GT ./. 1 244601071 . C . . NT END=244614936;NT GT ./. 1 244601152 rs3127465 C T 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1783,T/0.8217;Gene=ADSS/NM_001126.3/1;CC=c.184-82G>A;VC=Intron;DM=ADSS/Adenylsucc_synt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:4:0:0:11:330:38.22:8.81:29.41:1.00:1.00:1.00:60:32.7:0:0:130:21:6:NM_001126.3(ADSS) c.184-82G>A,NM_001126.3(ADSS) c.184-82G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 244615120 . G . . NT END=244624731;NT GT ./. 1 244624635 rs3006006 G C 103 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.3464,C/0.6536 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:56:53:0:0:33,23:1042,779:103.41,0.00:87.43,0.00:15.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,3.3:0,0:0,0:35,50:116,101:23,36:NM_001130957.1(C1orf101) c.-59-u38G>C,-:0.68,-:NOT_FOUND,- 1 244624797 . G . . NT END=244627209;NT GT ./. 1 244624887 rs3124058 T C 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.3666,C/0.6334;Gene=C1orf101/NM_001130957.1/1;CC=c.65+91T>C;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.-237+91T>C;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.65+91T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:6:0:0:17,18:538,570:51.37,0.00:4.86,0.00:46.51,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:42.5,2.8:0,0:0,0:87,101:64,50:36,33:NM_001130957.1(C1orf101) c.65+91T>C,-:0.66,-:NOT_FOUND,- 1 244627259 . G . . NT END=244640842;NT GT ./. 1 244640917 . G . . NT END=244641207;NT GT ./. 1 244641278 . G . . NT END=244643018;NT GT ./. 1 244643087 . G . . NT END=244653745;NT GT ./. 1 244653774 . G . . NT END=244662303;NT GT ./. 1 244662382 . G . . NT END=244678578;NT GT ./. 1 244678630 . G . . NT END=244681893;NT GT ./. 1 244682001 . G . . NT END=244715623;NT GT ./. 1 244715366 rs33962480 C CAA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;Gene=C1orf101/NM_001130957.1/1;CC=c.537-235_537-234insAA;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.84-235_84-234insAA;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.537-235_537-234insAA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:C,CAA,D:6:6:3:1:2,3,1:66,99,34:0.00,9.83,2.94:0.00,9.83,2.94:0.00,0.00,0.00:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.00,0.00:60,60,60:0.0,96.7,63.0:0,0,0:0,0,0:132,17,76:17,115,75:5,11,0:-,NM_001130957.1(C1orf101) c.537-258_537-257insAA:-,NOT_FOUND:-,NOT_FOUND 1 244715411 rs3003218 G C 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.127,C/0.873;PC=0.022;Gene=C1orf101/NM_001130957.1/1;CC=c.537-213G>C;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.84-213G>C;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.537-213G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:401:46.70:46.70:0.00:1.00:1.00:0.00:60:82.9:0:0:26:124:16:NM_001130957.1(C1orf101) c.537-213G>C,NM_001130957.1(C1orf101) c.537-213G>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 244715439 rs3003217 T C 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.127,C/0.873;PC=0.056;Gene=C1orf101/NM_001130957.1/1;CC=c.537-185T>C;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.84-185T>C;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.537-185T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A,C:14:14:0:0:1,13:12,376:0.61,43.30:0.61,43.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:97.0,81.8:0,0:0,0:81,53:70,97:0,16:NM_001130957.1(C1orf101) c.537-185T>C,NM_001130957.1(C1orf101) c.537-185T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 1 244716117 . G . . NT END=244723969;NT GT ./. 1 244724448 . G . . NT END=244735631;NT GT ./. 1 244735535 . C T 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;Gene=C1orf101/NM_001130957.1/1;CC=c.1508-97C>T;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.1055-97C>T;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.1508-97C>T;VC=Intron;DM=C1orf101/CATSPERD;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:14,11:452,350:0.00,32.81:0.00,32.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:74.0,59.5:0,0:0,0:32,49:116,102:26,39:-,NM_001130957.1(C1orf101) c.1508-97C>T:-,NOT_FOUND:-,NOT_FOUND 1 244735547 rs61842363 A G 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.8894,G/0.1106;PC=0.013;Gene=C1orf101/NM_001130957.1/1;CC=c.1508-85A>G;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.1055-85A>G;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.1508-85A>G;VC=Intron;DM=C1orf101/CATSPERD;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:25:0:0:11,14:353,461:0.00,45.33:0.00,45.33:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:64.7,74.0:0,0:0,0:42,44:108,104:30,26:-,NM_001130957.1(C1orf101) c.1508-85A>G:-,0.1:-,NOT_FOUND 1 244735556 rs4290045 G C 88 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.006789,C/0.9932,T/.;NP=1525;Gene=C1orf101/NM_001130957.1/1;CC=c.1508-76G>C;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.1055-76G>C;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.1508-76G>C;VC=Intron;DM=C1orf101/CATSPERD;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:24:0:0:24:767:88.09:86.11:1.99:1.00:1.00:1.00:60:71.7:0:0:48:102:23:NM_001130957.1(C1orf101) c.1508-76G>C,NM_001130957.1(C1orf101) c.1508-76G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 244736075 . G . . NT END=244745097;NT GT ./. 1 244745157 . G . . NT END=244747165;NT GT ./. 1 244747242 . G . . NT END=244751783;NT GT ./. 1 244751837 . G . . NT END=244754982;NT GT ./. 1 244755034 . G . . NT END=244756696;NT GT ./. 1 244756731 . G . . NT END=244756800;NT GT ./. 1 244756881 . G . . NT END=244768996;NT GT ./. 1 244769097 . G . . NT END=244773541;NT GT ./. 1 244773514 rs4658645 C T 43 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8405,T/0.1595;Gene=C1orf101/NM_001130957.1/1;CC=c.2404-28C>T;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.1951-28C>T;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.2404-28C>T;VC=Intron;DM=C1orf101/CATSPERD;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:25:0:0:18,15:572,461:0.00,43.36:0.00,32.20:0.00,11.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,33.6:0,0:0,0:42,57:103,93:24,37:-,NM_001130957.1(C1orf101) c.2404-28C>T:-,0.14:-,0.165001 1 244773629 . G . . NT END=244780830;NT GT ./. 1 244773784 rs6698173 T C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2522,C/0.7478;PC=0.002;Gene=C1orf101/NM_001130957.1/1;CC=c.2490+156T>C;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.2037+156T>C;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.2490+156T>C;VC=Intron;DM=C1orf101/CATSPERD;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:132:15.57:0.00:15.57:1.00:0.00:1.00:60:44.4:0:0:123:27:24:NM_001130957.1(C1orf101) c.2490+156T>C,NM_001130957.1(C1orf101) c.2490+156T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 1 244780989 . G . . NT END=244798790;NT GT ./. 1 244798845 . G . . NT END=244803229;NT GT ./. 1 244803014 rs2653155 C T 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1114,T/0.8886;Gene=C1orf101/NM_001130957.1/1;CC=c.2703-216C>T;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.2250-216C>T;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.*46-216C>T;VC=Intron;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:6:6:0:0:2,4:64,113:0.00,11.53:0.00,11.53:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:33.5,100.2:0,0:0,0:17,15:133,136:7,2:-,NM_001130957.1(C1orf101) c.2703-216C>T:-,0.9:-,NOT_FOUND 1 244803017 rs905251 T G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3163,G/0.6837;PC=0.001;Gene=C1orf101/NM_001130957.1/1;CC=c.2703-213T>G;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.2250-213T>G;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.*46-213T>G;VC=Intron;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:6:6:0:0:4,2:123,66:12.55,0.00:12.55,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:100.2,33.5:0,0:0,0:18,20:133,130:2,7:NM_001130957.1(C1orf101) c.2703-213T>G,-:0.69,-:NOT_FOUND,- 1 244803025 rs2819015 C T 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.006589,T/0.9934;NP=635;Gene=C1orf101/NM_001130957.1/1;CC=c.2703-205C>T;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.2250-205C>T;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.*46-205C>T;VC=Intron;DM=C1orf101/CATSPERD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:251:28.91:28.91:0.00:1.00:1.00:0.00:60:67.6:0:0:22:128:8:NM_001130957.1(C1orf101) c.2703-205C>T,NM_001130957.1(C1orf101) c.2703-205C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 1 244803205 rs60280231 CTT C 89 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=C1orf101/NM_001130957.1/1;CC=c.2703-12_2703-11delTT;VC=Intron;Gene=C1orf101/NM_001242340.1/0;CC=c.2250-12_2250-11delTT;VC=Intron;Gene=C1orf101/NM_173807.4/0;CC=c.*46-12_*46-11delTT;VC=Intron;DM=C1orf101/CATSPERD;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:A,CTT,C:31:32:0:35:1,4,26:10,69,1086:0.17,0.00,88.75:0.17,0.00,60.98:0.00,0.00,27.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:96.0,63.2,24.8:0,0,9:0,0,0:73,96,53:58,47,97:0,9,22:-,NM_001130957.1(C1orf101) c.2703-24_2703-23delTT:-,NOT_FOUND:-,NOT_FOUND 1 244803384 . G . . NT END=244816615;NT GT ./. 1 244803490 rs397729389 C CGTA 15 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3359,CA/.,CGTA/0.6641;DB;DBA=NA;PAF=C/0.3359,CGTA/0.6641;NP=1;NP=766;Gene=C1orf101/NM_001130957.1/1;CC=c.*112_*114dupTAG;VC=3UTR;Gene=C1orf101/NM_001242340.1/0;CC=c.*112_*114dupTAG;VC=3UTR;Gene=C1orf101/NM_173807.4/0;CC=c.*311_*313dupTAG;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,CGTA:13:1:5:0:8,5:205,167:0.00,15.33:0.00,-0.11:0.00,15.44:0.00,0.91:0.00,0.59:0.00,0.91:60,60:3.9,0.0:0,0:0,0:100,50:50,101:39,12:-,NM_001130957.1(C1orf101) c.*112_*114dupTAG:-,NOT_FOUND:-,NOT_FOUND 1 244816658 . G . . NT END=244849898;NT GT ./. 1 244849972 . G . . NT END=244852550;NT GT ./. 1 244852645 . G . . NT END=244855180;NT GT ./. 1 244855323 . G . . NT END=244868857;NT GT ./. 1 244869092 . A . . NT END=244999016;NT GT ./. 1 244869241 rs371377008 C CA 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=6;PC=1.000;Gene=DESI2/NM_001297746.1/0;CC=c.*162dupA;VC=3UTR;Gene=DESI2/NM_016076.4/1;CC=c.*162dupA;VC=3UTR;Gene=DESI2/NR_123735.1/0;VC=NonCoding;Gene=DESI2/NR_123736.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,CA,D:8:0:4:1:3,4,1:84,118,31:0.00,11.60,2.50:0.00,0.00,0.00:0.00,11.60,2.50:0.00,0.87,0.00:0.00,0.00,0.00:0.00,0.87,0.00:60,60,60:21.0,12.5,0.0:0,0,0:0,0,0:129,90,15:21,61,136:3,24,0:-,NM_016076.3(DESI2) c.*162dupA:-,NOT_FOUND:-,NOT_FOUND 1 244998884 rs370216563 TGGC T 106 nt VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=TGGC/0.9752,T/0.02476;NP=49;PC=1.000;Gene=COX20/NM_001312871/0;CC=c.-129_-127delGGC;VC=5UTR;Gene=COX20/NM_198076.4/1;CC=c.-129_-127delGGC;VC=5UTR;Gene=COX20/NM_001312872/0;CC=c.-129_-127delGGC;VC=5UTR;Gene=COX20/NM_001312873/0;CC=c.-129_-127delGGC;VC=5UTR;Gene=COX20/NM_001312874/0;CC=c.-129_-127delGGC;VC=5UTR;Gene=COX20/NR_132419/0;VC=NonCoding;Gene=COX20/NR_132420/0;VC=NonCoding;Gene=COX20/NR_132421/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGGC,T:61:60:0:34:27,34:855,1076:0.00,105.63:0.00,99.84:0.00,5.79:0.00,1.00:0.00,1.00:0.00,0.98:60,60:9.7,6.3:0,0:0,0:58,60:93,91:37,36:-,NM_198076.4(COX20) c.-132GGC[1]:-,NOT_FOUND:-,NOT_FOUND 1 244999059 . G . . NT END=244999786;NT GT ./. 1 244999823 . G . . NT END=245005245;NT GT ./. 1 245005361 . G . . NT END=245005496;NT GT ./. 1 245005561 . G . . NT END=245006342;NT GT ./. 1 245006479 . A . . NT END=245017751;NT GT ./. 1 245017806 . C . . NT END=245018274;NT GT ./. 1 245018347 . C . . NT END=245018725;NT GT ./. 1 245018911 . C . . NT END=245019205;NT GT ./. 1 245019461 . C . . NT END=245019758;NT GT ./. 1 245019928 . C . . NT END=245020029;NT GT ./. 1 245020159 . C . . NT END=245020899;NT GT ./. 1 245021020 . C . . NT END=245021312;NT GT ./. 1 245021291 . TA T 27 idl,rn VT=DEL;SST=Single;DP=78;NP=336;PC=0.010;Gene=HNRNPU/NM_004501.3/0;CC=c.1437+21delT;VC=Intron;Gene=HNRNPU/NM_031844.2/1;CC=c.1494+21delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:75:61:6:14:2,56,5,12:49,1695,196,409:2.11,0.00,11.32,27.24:1.48,0.00,9.38,16.23:0.63,0.00,1.94,11.01:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:40.5,11.1,13.2,10.5:1,0,1,2:0,0,0,0:25,57,36,50:125,89,109,95:18,32,7,30:-,NM_031844.2(HNRNPU) c.1494+21delT:-,NOT_FOUND:-,NOT_FOUND 1 245021577 . C . . NT END=245022030;NT GT ./. 1 245022144 . C . . NT END=245022576;NT GT ./. 1 245022677 . C . . NT END=245023636;NT GT ./. 1 245023777 . C . . NT END=245025762;NT GT ./. 1 245025697 rs528097252 T TA 46 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.507,TA/0.493,TAA/.,TAAA/.;NP=175;NP=2;NP=22;NP=9;PC=0.001;Gene=HNRNPU/NM_004501.3/0;CC=c.820+65dupT;VC=Intron;Gene=HNRNPU/NM_031844.2/1;CC=c.877+65dupT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,T,TA:20:25:19:0:1,5,14:32,149,591:2.19,0.00,45.97:2.19,0.00,45.97:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:170.0,57.0,49.8:0,0,5:0,0,0:0,98,58:123,37,92:0,23,30:-,NM_031844.2(HNRNPU) c.877+65_877+66insT:-,NOT_FOUND:-,NOT_FOUND 1 245025837 . C . . NT END=245025920;NT GT ./. 1 245026033 . C . . NT END=245026918;NT GT ./. 1 245027349 rs6675421 C T 259 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=163;DB;DBA=NA;PAF=C/0.7149,T/0.2851;PC=0.152;Gene=HNRNPU/NM_004501.3/0;CC=c.261G>A;ProtCh=p.E87=;VC=Silent;Gene=HNRNPU/NM_031844.2/1;CC=c.261G>A;ProtCh=p.E87=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:163:105:0:0:81,82:2604,2688:0.00,258.87:0.00,122.04:0.00,136.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,40.8:0,0:0,0:71,70:80,77:26,35:-,NM_031844.2(HNRNPU) c.261G>A (p.(=)):-,0.28:-,0.258886 1 245027610 . G . . NT END=245133720;NT GT ./. 1 245133489 rs7545078 T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5124,G/0.4876;Gene=LOC101928068/NR_111907.1/0;VC=NonCoding;Gene=EFCAB2/NM_032328.3/0;CC=c.-90-142T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:G,T:5:5:0:0:4,1:118,19:12.63,0.00:12.63,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:45.8,36.0:0,0:0,0:125,34:25,117:21,0:NM_032328.3(EFCAB2) c.-90-142T>G,-:0.5,-:NOT_FOUND,- 1 245133539 rs7542813 A G 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=53;Gene=LOC101928068/NR_111907.1/0;VC=NonCoding;Gene=EFCAB2/NM_032328.3/0;CC=c.-90-92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:433:49.50:49.50:0.00:1.00:1.00:0.00:60:84.7:0:0:31:118:10:NM_032328.3(EFCAB2) c.-90-92A>G,NM_032328.3(EFCAB2) c.-90-92A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 245133549 rs10536649 GGC G 10 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=GGC/0.518,G/0.482;NP=8;PC=0.004;Gene=LOC101928068/NR_111907.1/0;VC=NonCoding;Gene=EFCAB2/NM_032328.3/0;CC=c.-90-75_-90-74delGC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:GGC,G:15:15:0:4:11,4:357,123:0.00,10.43:0.00,10.43:0.00,0.00:0.00,0.76:0.00,0.76:0.00,0.00:60,60:60.4,116.8:0,0:0,0:31,44:118,70:17,13:-,NM_032328.3(EFCAB2) c.-90-81_-90-80delGC:-,0.5:-,NOT_FOUND 1 245133623 rs78699431 T TCCTCC 48 nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.5028,TCCTCC/0.4972;DB;DBA=NA;PAF=T/0.5028,TCCTCC/0.4972;NP=17;PC=0.012;Gene=LOC101928068/NR_111907.1/0;VC=NonCoding;Gene=EFCAB2/NM_032328.3/0;CC=c.-90-7_-90-3dupCCTCC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCCTCC:59:51:19:0:3,37,19:53,1125,547:2.25,0.00,48.18:2.37,0.00,24.03:-0.11,0.00,24.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:107.3,22.5,41.3:0,1,0:0,0,0:59,33,23:87,116,125:29,21,9:-,NM_032328.3(EFCAB2) c.-90-8_-90-7insCCTCC:-,NOT_FOUND:-,NOT_FOUND 1 245133662 rs61844237 G C 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.6288,C/0.3712;Gene=LOC101928068/NR_111907.1/0;VC=NonCoding;Gene=EFCAB2/NM_032328.3/0;CC=c.-59G>C;VC=5UTR;Gene=EFCAB2/NM_001290327.1/0;CC=c.-141G>C;VC=5UTR;Gene=EFCAB2/NM_001143943.1/1;CC=c.-59G>C;VC=5UTR;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:95:79:0:0:42,53:1295,1544:121.33,0.00:55.40,0.00:65.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,13.7:0,0:0,0:51,43:93,100:28,25:NM_032328.3(EFCAB2) c.-59G>C,-:0.38,-:NOT_FOUND,- 1 245133746 . G . . NT END=245165422;NT GT ./. 1 245165535 . G . . NT END=245180543;NT GT ./. 1 245180629 . G . . NT END=245222687;NT GT ./. 1 245180639 rs398090034 AT A 11 rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=AT/0.7626,A/0.2374;DB;DBA=NA;PAF=AT/0.7626,A/0.2374;NP=400;PC=0.169;Gene=EFCAB2/NM_032328.3/0;CC=c.110+22delT;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.140+22delT;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.110+22delT;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AT,A:42:19:0:5:37,5:1192,151:0.00,10.84:0.00,2.30:0.00,8.54:0.00,0.76:0.00,0.83:0.00,0.96:60,60:13.2,7.0:0,0:0,0:103,91:44,59:22,10:-,NM_032328.3(EFCAB2) c.110+12delT:-,NOT_FOUND:-,0.190179 1 245222507 rs471747 A T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7081,T/0.2919;Gene=EFCAB2/NM_032328.3/0;CC=c.111-181A>T;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.141-181A>T;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.111-181A>T;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,T:4:4:0:0:2,2:35,69:0.00,6.66:0.00,6.66:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:23.5,81.0:0,0:0,0:71,44:78,106:23,9:-,NM_032328.3(EFCAB2) c.111-181A>T:-,0.32:-,NOT_FOUND 1 245222634 rs694793 C G 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1144,G/0.8856;Gene=EFCAB2/NM_032328.3/0;CC=c.111-54C>G;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.141-54C>G;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.111-54C>G;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:16:13:0:0:16:408:48.00:32.74:15.26:1.00:1.00:1.00:60:42.3:0:0:80:69:36:NM_032328.3(EFCAB2) c.111-54C>G,NM_032328.3(EFCAB2) c.111-54C>G:0.92,0.92:0.943252,0.943252 1 245222761 . G . . NT END=245245384;NT GT ./. 1 245222839 rs579269 G T 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.02476,T/0.9752;Gene=EFCAB2/NM_032328.3/0;CC=c.183+79G>T;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.213+79G>T;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.183+79G>T;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:3:0:0:17:523:60.33:5.97:54.37:1.00:1.00:1.00:60:39.6:0:0:79:72:37:NM_032328.3(EFCAB2) c.183+79G>T,NM_032328.3(EFCAB2) c.183+79G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 1 245245378 rs10927386 T C 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6983,A/.,C/0.3017;PC=0.114;Gene=EFCAB2/NM_032328.3/0;CC=c.184-7T>C;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.214-7T>C;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.184-7T>C;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:26:0:0:12,25:377,799:33.30,0.00:16.94,0.00:16.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.2,8.4:0,0:0,0:40,52:103,98:21,32:NM_032328.3(EFCAB2) c.184-7T>C,-:0.32,-:0.358604,- 1 245245402 rs10927387 C T 43 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7107,T/0.2893;PC=0.842;Gene=EFCAB2/NM_032328.3/0;CC=c.201C>T;ProtCh=p.P67=;VC=Silent;Gene=EFCAB2/NM_001290327.1/0;CC=c.231C>T;ProtCh=p.P77=;VC=Silent;Gene=EFCAB2/NM_001143943.1/1;CC=c.201C>T;ProtCh=p.P67=;VC=Silent;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:31:0:0:28,14:897,479:0.00,42.98:0.00,19.36:0.00,23.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,63.9:0,0:0,0:58,58:92,79:31,26:-,NM_032328.3(EFCAB2) c.201C>T (p.(=)):-,0.32:-,0.346379 1 245245465 . G . . NT END=245246743;NT GT ./. 1 245245705 rs6429520 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.04353,A/0.9565;Gene=EFCAB2/NM_032328.3/0;CC=c.263+241G>A;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.293+241G>A;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.263+241G>A;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:142:16.53:0.00:16.53:1.00:0.00:1.00:60:38.6:0:0:124:27:15:NM_032328.3(EFCAB2) c.263+241G>A,NM_032328.3(EFCAB2) c.263+241G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 1 245246545 rs10927389 C T 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7013,T/0.2987;PC=0.006;Gene=EFCAB2/NM_032328.3/0;CC=c.264-199C>T;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.294-199C>T;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.264-199C>T;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:4:0:0:2,2:69,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:67.0,61.5:0,0:0,0:26,54:119,96:3,31:-,NM_032328.3(EFCAB2) c.264-199C>T:-,0.32:-,NOT_FOUND 1 245246787 . G . . NT END=245246923;NT GT ./. 1 245246991 . G . . NT END=245250546;NT GT ./. 1 245247180 rs10754849 G A 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.5441,A/0.4559;Gene=EFCAB2/NM_032328.3/0;CC=c.373+190G>A;VC=Intron;Gene=EFCAB2/NM_001290327.1/0;CC=c.403+190G>A;VC=Intron;Gene=EFCAB2/NM_001143943.1/1;CC=c.373+190G>A;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:0:0:0:10,11:353,335:33.77,0.00:0.00,0.00:33.77,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.9,17.2:0,0:0,0:96,86:55,64:28,29:NM_032328.3(EFCAB2) c.373+190G>A,-:0.47,-:NOT_FOUND,- 1 245251020 rs1047707 G T 101 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.7103,T/0.2897;PC=0.001;Gene=EFCAB2/NM_032328.3/0;CC=c.*358G>T;VC=3UTR;Gene=EFCAB2/NM_001290327.1/0;CC=c.*358G>T;VC=3UTR;Gene=EFCAB2/NM_001143943.1/1;CC=c.373+4030G>T;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:71:44:0:0:38,33:1136,1062:0.00,100.65:0.00,40.51:0.00,60.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.7,40.8:0,0:0,0:74,66:76,74:39,37:-,NM_032328.3(EFCAB2) c.*358G>T:-,0.32:-,NOT_FOUND 1 245251140 rs4658695 T G 227 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.05871,G/0.9413;PC=0.003;Gene=EFCAB2/NM_032328.3/0;CC=c.*478T>G;VC=3UTR;Gene=EFCAB2/NM_001290327.1/0;CC=c.*478T>G;VC=3UTR;Gene=EFCAB2/NM_001143943.1/1;CC=c.373+4150T>G;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G:60:27:0:0:60:1980:226.50:68.44:158.06:1.00:1.00:1.00:60:43.5:0:0:70:70:35:NM_032328.3(EFCAB2) c.*478T>G,NM_032328.3(EFCAB2) c.*478T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 245251149 . a . . NT END=245318726;NT GT ./. 1 245251607 rs2152908 G T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.631,T/0.369;Gene=EFCAB2/NM_001143943.1/1;CC=c.373+4617G>T;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:151:17.48:7.60:9.88:1.00:1.00:1.00:60:40.8:0:0:70:81:14:NM_001143943.1(EFCAB2) c.373+4617G>T,NM_001143943.1(EFCAB2) c.373+4617G>T:0.38,0.38:NOT_FOUND,NOT_FOUND 1 245251617 rs374395494 G GACACAC 12 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3702,GAC/.,GACAC/.,GACACAC/.,GACACACAC/.,GACACACACAC/0.6298;DB;DBA=NA;PAF=NA;NP=1;NP=25;NP=42;Gene=EFCAB2/NM_001143943.1/1;CC=c.373+4661_373+4662insACACAC;VC=Intron;Gene=EFCAB2/NR_026587.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GACACAC:5:3:4:0:1,4:36,116:0.00,12.42:0.00,5.02:0.00,7.40:0.00,0.96:0.00,0.99:0.00,1.00:60,60:34.0,40.2:0,0:0,0:107,73:30,78:0,14:-,NM_001143943.1(EFCAB2) c.373+4627_373+4628insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 245318688 rs12409851 C T 95 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5944,T/0.4056;PC=0.003;Gene=KIF26B/NM_018012.3/1;CC=c.-39C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:23:0:0:26:822:94.52:64.96:29.56:1.00:1.00:1.00:60:51.0:0:0:56:94:25:NM_018012.3(KIF26B) c.-39C>T,NM_018012.3(KIF26B) c.-39C>T:0.38,0.38:0.342565,0.342565 1 245318790 . G . . NT END=245319583;NT GT ./. 1 245319986 . G . . NT END=245530135;NT GT ./. 1 245332638 rs6686698 T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.206;Gene=KIF26B/NM_018012.3/1;CC=c.465+12653T>G;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:G,T:8:7:0:0:3,5:80,164:7.13,0.00:2.04,0.00:5.10,0.00:0.67,0.00:0.95,0.00:0.93,0.00:60,60:34.3,3.4:0,0:0,0:89,68:62,62:8,35:NM_018012.3(KIF26B) c.465+12653T>G,-:NOT_FOUND,-:NOT_FOUND,- 1 245408120 rs3008475 C T 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.05411,T/0.9459;Gene=KIF26B/NM_018012.3/1;CC=c.465+88135C>T;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:4:0:0:7:228:26.14:8.89:17.25:1.00:1.00:1.00:60:54.1:0:0:75:36:20:NM_018012.3(KIF26B) c.465+88135C>T,NM_018012.3(KIF26B) c.465+88135C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 1 245410168 rs56027872 A AACAC 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2885,AAC/0.7115,AACAC/.;DB;DBA=NA;PAF=NA;NP=2;NP=325;PC=0.123;Gene=KIF26B/NM_018012.3/1;CC=c.465+90210_465+90211insCACA;VC=Intron;DM=KIF26B/Kinesin;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,AACAC:4:3:3:0:1,3:19,89:0.00,9.36:0.00,5.60:0.00,3.75:0.00,0.85:0.00,0.99:0.00,0.83:60,60:35.0,28.0:0,0:0,0:72,34:79,114:0,23:-,NM_018012.3(KIF26B) c.465+90183_465+90184insACAC:-,NOT_FOUND:-,NOT_FOUND 1 245430915 rs12732812 T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9028,C/0.09724;Gene=KIF26B/NM_018012.3/1;CC=c.466-99221T>C;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:C,T:4:1:0:0:2,2:68,44:6.57,0.00:-0.30,0.00:6.87,0.00:0.94,0.00:0.67,0.00:0.89,0.00:60,70:34.0,33.0:0,0:0,0:51,41:98,107:7,20:NM_018012.3(KIF26B) c.466-99221T>C,-:0.11,-:NOT_FOUND,- 1 245530670 . G . . NT END=245582880;NT GT ./. 1 245530744 rs115418061 C T 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9924,T/0.007588;Gene=KIF26B/NM_018012.3/1;CC=c.999+75C>T;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:8:0:0:19,18:538,561:0.00,53.58:0.00,4.48:0.00,49.10:0.00,1.00:0.00,0.99:0.00,1.00:60,60:9.1,38.6:0,0:0,0:106,95:45,54:28,32:-,NM_018012.3(KIF26B) c.999+75C>T:-,0.01:-,NOT_FOUND 1 245545835 rs71563746 T TTGTG 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=358;NP=7;PC=0.001;Gene=KIF26B/NM_018012.3/1;CC=c.999+15187_999+15188insGTGT;VC=Intron;DM=KIF26B/Kinesin;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TTGTG:4:1:2:0:2,2:67,67:0.00,6.45:0.00,-0.30:0.00,6.75:0.00,0.94:0.00,0.67:0.00,0.89:60,60:0.0,0.0:0,0:0,0:103,89:47,61:16,27:-,NM_018012.3(KIF26B) c.999+15166_999+15167insTGTG:-,NOT_FOUND:-,NOT_FOUND 1 245583048 . G . . NT END=245704068;NT GT ./. 1 245583284 rs1148920 T C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.648,C/0.352;Gene=KIF26B/NM_018012.3/1;CC=c.1166+237T>C;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:95:11.24:0.00:11.24:1.00:0.00:1.00:60:73.5:0:0:102:48:16:NM_018012.3(KIF26B) c.1166+237T>C,NM_018012.3(KIF26B) c.1166+237T>C:0.34,0.34:NOT_FOUND,NOT_FOUND 1 245583293 rs1173654 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8417,G/0.1583;Gene=KIF26B/NM_018012.3/1;CC=c.1166+246A>G;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:86:10.43:0.00:10.43:1.00:0.00:1.00:60:73.5:0:0:111:39:16:NM_018012.3(KIF26B) c.1166+246A>G,NM_018012.3(KIF26B) c.1166+246A>G:0.15,0.15:NOT_FOUND,NOT_FOUND 1 245637540 rs10924205 G A 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.003794,A/0.9962;NP=7;PC=0.006;Gene=KIF26B/NM_018012.3/1;CC=c.1166+54493G>A;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:137:15.61:11.58:4.03:1.00:1.00:1.00:60:36.2:0:0:70:81:8:NM_018012.3(KIF26B) c.1166+54493G>A,NM_018012.3(KIF26B) c.1166+54493G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 245703990 rs9919234 G T 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.3748,T/0.6252;Gene=KIF26B/NM_018012.3/1;CC=c.1167-79G>T;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:28:0:0:15,15:503,451:0.00,43.22:0.00,42.14:0.00,1.09:0.00,1.00:0.00,1.00:0.00,0.89:60,60:4.9,31.9:0,0:0,0:28,37:123,111:20,33:-,NM_018012.3(KIF26B) c.1167-79G>T:-,0.62:-,NOT_FOUND 1 245704253 . G . . NT END=245765878;NT GT ./. 1 245765707 rs12727516 T C 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.78,C/0.22;PC=0.166;Gene=KIF26B/NM_018012.3/1;CC=c.1351-172T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:C,T:15:15:0:0:9,6:289,178:28.81,0.00:28.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:90.9,18.5:0,0:0,0:51,105:97,45:31,27:NM_018012.3(KIF26B) c.1351-172T>C,-:0.24,-:NOT_FOUND,- 1 245765719 rs1771526 C G 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.1993,G/0.8007;Gene=KIF26B/NM_018012.3/1;CC=c.1351-160C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:18:0:0:9,9:281,305:0.00,29.38:0.00,29.38:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.3,94.6:0,0:0,0:93,48:58,103:55,19:-,NM_018012.3(KIF26B) c.1351-160C>G:-,0.8:-,NOT_FOUND 1 245765800 rs7541927 T A 57 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6739,A/0.3261;Gene=KIF26B/NM_018012.3/1;CC=c.1351-79T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:34:30:0:0:18,16:591,517:57.48,0.00:47.91,0.00:9.57,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:67.3,0.7:0,0:0,0:54,29:96,120:32,22:NM_018012.3(KIF26B) c.1351-79T>A,-:0.35,-:NOT_FOUND,- 1 245766086 . G . . NT END=245770952;NT GT ./. 1 245771047 . G . . NT END=245772567;NT GT ./. 1 245772370 rs1771524 G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.485,A/0.515;Gene=KIF26B/NM_018012.3/1;CC=c.1652-198G>A;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,G:10:10:0:0:6,4:187,110:18.65,0.00:18.65,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:69.0,12.0:0,0:0,0:12,83:136,67:6,47:NM_018012.3(KIF26B) c.1652-198G>A,-:0.5,-:NOT_FOUND,- 1 245772831 . G . . NT END=245775094;NT GT ./. 1 245773041 rs12041565 C T 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8175,T/0.1825;PC=1.000;Gene=KIF26B/NM_018012.3/1;CC=c.1914+211C>T;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:14:0:0:0:5,9:148,247:0.00,25.01:0.00,0.00:0.00,25.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:37.6,34.0:0,0:0,0:78,99:56,51:25,27:-,NM_018012.3(KIF26B) c.1914+211C>T:-,0.19:-,NOT_FOUND 1 245774844 rs10924253 C T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5182,T/0.4818;Gene=KIF26B/NM_018012.3/1;CC=c.1915-251C>T;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,101:0.00,10.55:0.00,10.55:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,33.7:0,0:0,0:101,73:49,77:0,10:-,NM_018012.3(KIF26B) c.1915-251C>T:-,0.48:-,NOT_FOUND 1 245774964 rs10802225 A G 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4922,G/0.5078;Gene=KIF26B/NM_018012.3/1;CC=c.1915-131A>G;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:10,8:312,235:0.00,21.95:0.00,22.08:0.00,-0.13:0.00,0.99:0.00,0.99:0.00,0.63:60,60:11.9,97.1:0,0:0,0:45,38:105,113:28,23:-,NM_018012.3(KIF26B) c.1915-131A>G:-,0.51:-,NOT_FOUND 1 245774979 rs10754457 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5182,T/0.4818;Gene=KIF26B/NM_018012.3/1;CC=c.1915-116C>T;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:13,16:431,517:0.00,50.67:0.00,47.60:0.00,3.07:0.00,1.00:0.00,1.00:0.00,0.96:60,60:10.0,79.9:0,0:0,0:32,13:119,138:28,13:-,NM_018012.3(KIF26B) c.1915-116C>T:-,0.48:-,NOT_FOUND 1 245774993 rs10754458 A G 76 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.516,G/0.484;Gene=KIF26B/NM_018012.3/1;CC=c.1915-102A>G;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:36:0:0:15,23:471,764:0.00,76.28:0.00,63.53:0.00,12.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,70.3:0,0:0,0:45,16:106,135:29,10:-,NM_018012.3(KIF26B) c.1915-102A>G:-,0.48:-,NOT_FOUND 1 245775279 . G . . NT END=245809422;NT GT ./. 1 245775405 rs1715791 T A 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=5;PC=0.012;Gene=KIF26B/NM_018012.3/1;CC=c.2098+127T>A;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,T,D:14:2:0:1:4,9,1:131,302,35:11.52,0.00,2.54:-0.15,0.00,1.38:11.66,0.00,1.16:0.77,0.00,0.00:0.57,0.00,0.00:0.97,0.00,0.00:60,60,60:98.5,30.9,0.0:0,0,0:0,0,0:94,74,54:56,77,97:5,26,0:NM_018012.3(KIF26B) c.2098+127T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 245775407 rs3047661 T A 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;PC=0.063;Gene=KIF26B/NM_018012.3/1;CC=c.2098+129T>A;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:13:1:0:1:6,7:214,240:20.37,0.00:-0.27,0.00:20.63,0.00:0.97,0.00:0.64,0.00:1.00,0.00:60,60:83.2,24.7:0,0:0,0:96,76:54,75:7,26:NM_018012.3(KIF26B) c.2098+129T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 245809583 . G . . NT END=245847534;NT GT ./. 1 245815447 rs6669528 T A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5627,A/0.4373;NP=1;NP=19;NP=397;NP=4;NP=5;NP=5;NP=5;Gene=KIF26B/NM_018012.3/1;CC=c.2258+5865T>A;VC=Intron;DM=KIF26B/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,T:5:3:0:0:2,3:71,70:6.60,0.00:1.62,0.00:4.98,0.00:0.46,0.00:0.80,0.00:0.46,0.00:60,60:53.5,17.0:0,0:0,0:99,21:50,130:19,2:NM_018012.3(KIF26B) c.2258+5865T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 245847698 . G . . NT END=245848706;NT GT ./. 1 245851304 rs6701084 A G 692 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=A/0.01018,G/0.9898;NP=1301;Gene=KIF26B/NM_018012.3/1;CC=c.5019A>G;ProtCh=p.T1673=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:204:145:0:0:1,203:13,5986:0.00,692.28:0.00,385.74:0.00,306.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,37.5:0,0:0,0:87,68:64,77:0,43:NM_018012.3(KIF26B) c.5019A>G (p.(=)),NM_018012.3(KIF26B) c.5019A>G (p.(=)):0.99,0.99:0.984823,0.984823 1 245852110 . G . . NT END=245861407;NT GT ./. 1 245852388 rs3766648 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5559,T/0.4441;PC=0.002;Gene=KIF26B/NM_018012.3/1;CC=c.5824+279C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,T:8:0:0:0:4,4:49,132:0.00,12.81:0.00,0.00:0.00,12.81:0.00,0.87:0.00,0.00:0.00,0.87:60,60:88.0,52.0:0,0:0,0:103,125:48,25:18,14:-,NM_018012.3(KIF26B) c.5824+279C>T:-,0.53:-,NOT_FOUND 1 245861571 rs3205034 C T 155 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.5996,T/0.4004;PC=0.705;Gene=KIF26B/NM_018012.3/1;CC=c.5988C>T;ProtCh=p.D1996=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:58:0:0:50,50:1560,1614:0.00,155.15:0.00,55.67:0.00,99.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,38.4:0,0:0,0:62,94:78,56:39,33:-,NM_018012.3(KIF26B) c.5988C>T (p.(=)):-,0.47:-,0.526423 1 245861611 . G . . NT END=245862188;NT GT ./. 1 245862340 . G . . NT END=245865759;NT GT ./. 1 245865909 . A . . NT END=245912864;NT GT ./. 1 245912967 . C . . NT END=245927342;NT GT ./. 1 245927452 . C . . NT END=245977664;NT GT ./. 1 245928347 rs554434672 T TAC 21 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;NP=4;NP=53;PC=0.001;Gene=SMYD3/NM_022743.2/1;CC=c.900-897_900-896insGT;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.1077-897_1077-896insGT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TAC:6:5:6:0:6:183:21.15:15.11:6.05:1.00:1.00:1.00:70:23.7:0:0:38:101:25:NM_001167740.1(SMYD3) c.1077-897_1077-896insGT,NM_001167740.1(SMYD3) c.1077-897_1077-896insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 245977467 rs10802268 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4545,T/0.5455;Gene=SMYD3/NM_022743.2/1;CC=c.899+44331G>A;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.1076+44331G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,T:8:8:0:0:4,4:129,107:0.00,10.15:0.00,10.15:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:11.5,58.0:0,0:0,0:78,87:73,63:11,13:-,NM_001167740.1(SMYD3) c.1076+44331G>A:-,0.59:-,NOT_FOUND 1 245977555 rs10802269 G A 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4896,A/0.5104;Gene=SMYD3/NM_022743.2/1;CC=c.899+44243C>T;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.1076+44243C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:12:12:0:0:4,8:132,258:11.79,0.00:11.79,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:40.8,0.6:0,0:0,0:33,30:116,119:10,24:NM_001167740.1(SMYD3) c.1076+44243C>T,-:0.55,-:NOT_FOUND,- 1 245977718 . C . . NT END=246021797;NT GT ./. 1 245977881 rs2362926 A G 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8546,G/0.1454;Gene=SMYD3/NM_022743.2/1;CC=c.899+43917T>C;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.1076+43917T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:6:0:0:0:2,4:67,126:0.00,12.85:0.00,0.00:0.00,12.85:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,31.5:0,0:0,0:110,89:40,61:15,55:-,NM_001167740.1(SMYD3) c.1076+43917T>C:-,0.14:-,NOT_FOUND 1 246021494 rs4654141 C A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8241,A/0.1759;Gene=SMYD3/NM_022743.2/1;CC=c.899+304G>T;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.1076+304G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,C:6:6:0:0:3,3:101,80:9.73,0.00:9.73,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.7,2.7:0,0:0,0:32,88:118,63:0,15:NM_001167740.1(SMYD3) c.1076+304G>T,-:0.16,-:NOT_FOUND,- 1 246021973 . C . . NT END=246027100;NT GT ./. 1 246022159 rs2185369 G A 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3227,A/0.6773;Gene=SMYD3/NM_022743.2/1;CC=c.725-187C>T;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.902-187C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:9,7:271,209:26.64,0.00:0.00,0.00:26.64,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.3,17.7:0,0:0,0:120,94:28,57:10,39:NM_001167740.1(SMYD3) c.902-187C>T,-:0.72,-:NOT_FOUND,- 1 246026850 rs12048995 G T 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7246,T/0.2754;Gene=SMYD3/NM_022743.2/1;CC=c.724+251C>A;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.901+251C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,T:5:5:0:0:1,4:36,122:0.00,13.02:0.00,13.02:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,44.2:0,0:0,0:41,83:110,67:0,26:-,NM_001167740.1(SMYD3) c.901+251C>A:-,0.26:-,NOT_FOUND 1 246027034 rs2153404 G C 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.009385,C/0.9906;Gene=SMYD3/NM_022743.2/1;CC=c.724+67C>G;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.901+67C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:22:0:0:22:677:78.18:72.17:6.02:1.00:1.00:1.00:60:32.9:0:0:33:117:29:NM_001167740.1(SMYD3) c.901+67C>G,NM_001167740.1(SMYD3) c.901+67C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 246027189 . C . . NT END=246078831;NT GT ./. 1 246078943 . C . . NT END=246091232;NT GT ./. 1 246091115 rs2275313 C G 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.271,G/0.729;Gene=SMYD3/NM_022743.2/1;CC=c.525+118G>C;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.702+118G>C;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:420:48.61:48.61:0.00:1.00:1.00:0.00:60:48.5:0:0:48:103:30:NM_001167740.1(SMYD3) c.702+118G>C,NM_001167740.1(SMYD3) c.702+118G>C:0.73,0.73:NOT_FOUND,NOT_FOUND 1 246091336 . C . . NT END=246093171;NT GT ./. 1 246091457 rs6669768 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.003395,C/0.9966;NP=1472;Gene=SMYD3/NM_022743.2/1;CC=c.423-122A>G;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.600-122A>G;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:0:0:0:16:456:53.06:0.00:53.06:1.00:0.00:1.00:60:74.7:0:0:67:82:39:NM_001167740.1(SMYD3) c.600-122A>G,NM_001167740.1(SMYD3) c.600-122A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 246091515 rs2275318 C T 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3339,T/0.6661;Gene=SMYD3/NM_022743.2/1;CC=c.423-180G>A;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.600-180G>A;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:412:46.92:0.00:46.92:1.00:0.00:1.00:60:89.8:0:0:97:53:27:NM_001167740.1(SMYD3) c.600-180G>A,NM_001167740.1(SMYD3) c.600-180G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 1 246091531 rs6669866 T C 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.01158,C/0.9884;Gene=SMYD3/NM_022743.2/1;CC=c.423-196A>G;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.600-196A>G;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:307:35.43:0.00:35.43:1.00:0.00:1.00:60:95.1:0:0:98:52:19:NM_001167740.1(SMYD3) c.600-196A>G,NM_001167740.1(SMYD3) c.600-196A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 246093240 . C . . NT END=246116532;NT GT ./. 1 246116352 rs12137320 A G 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.614,G/0.386;PC=0.048;Gene=SMYD3/NM_022743.2/1;CC=c.355-23113T>C;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.532-23113T>C;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:13:13:0:0:4,9:128,312:0.00,32.01:0.00,32.01:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.8,43.9:0,0:0,0:70,28:81,118:36,10:-,NM_001167740.1(SMYD3) c.532-23113T>C:-,0.44:-,NOT_FOUND 1 246116658 . C . . NT END=246119227;NT GT ./. 1 246119155 rs10802304 G T 100 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3538,T/0.6462;PC=0.004;Gene=SMYD3/NM_022743.2/1;CC=c.355-25916C>A;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.532-25916C>A;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:28:0:0:28:864:99.74:99.74:0.00:1.00:1.00:0.00:60:60.9:0:0:63:87:38:NM_001167740.1(SMYD3) c.532-25916C>A,NM_001167740.1(SMYD3) c.532-25916C>A:0.67,0.67:NOT_FOUND,NOT_FOUND 1 246119178 rs59638550 GT G 56 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=GT/0.3083,G/0.6917;DB;DBA=NA;PAF=GT/0.3083,G/0.6917;NP=188;PC=0.023;Gene=SMYD3/NM_022743.2/1;CC=c.355-25940delA;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.532-25940delA;VC=Intron;DM=SMYD3/SET;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,T,G:30:34:0:23:10,2,18:305,35,702:0.00,1.88,55.96:0.00,1.91,56.28:0.00,-0.03,-0.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.68:60,60,70:48.4,57.5,73.5:0,0,5:0,0,0:90,134,44:53,8,107:33,15,29:-,NM_001167740.1(SMYD3) c.532-25940delA:-,NOT_FOUND:-,NOT_FOUND 1 246119246 rs6658072 T C 258 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.004792,C/0.9952;NP=17;PC=0.001;Gene=SMYD3/NM_022743.2/1;CC=c.355-26007A>G;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.532-26007A>G;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:C,T:72:60:0:0:70,2:2279,20:257.95,0.00:166.53,0.00:91.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:44.3,30.5:0,0:0,0:33,115:117,35:16,34:NM_001167740.1(SMYD3) c.532-26007A>G,NM_001167740.1(SMYD3) c.532-26007A>G:1,1:NOT_FOUND,NOT_FOUND 1 246119405 . a . . NT END=246350044;NT GT ./. 1 246350248 . A . . NT END=246490502;NT GT ./. 1 246490438 rs3737245 T C 56 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1837,C/0.8163;Gene=SMYD3/NM_022743.2/1;CC=c.354+65A>G;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.531+65A>G;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:35:0:0:18,22:594,731:56.03,0.00:38.25,0.00:17.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.2,6.3:0,0:0,0:33,62:118,88:28,36:NM_001167740.1(SMYD3) c.531+65A>G,-:0.82,-:NOT_FOUND,- 1 246490442 rs3737246 A G 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.1837,G/0.8163;PC=0.910;Gene=SMYD3/NM_022743.2/1;CC=c.354+61T>C;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.531+61T>C;VC=Intron;DM=SMYD3/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:35:0:0:22,19:711,553:0.00,52.02:0.00,36.07:0.00,15.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,64.8:0,0:0,0:50,22:100,127:23,16:-,NM_001167740.1(SMYD3) c.531+61T>C:-,0.82:-,NOT_FOUND 1 246490640 . C . . NT END=246493781;NT GT ./. 1 246493840 . C . . NT END=246498668;NT GT ./. 1 246498777 . C . . NT END=246518332;NT GT ./. 1 246518087 rs2027371 G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2568,A/0.7432;PC=0.001;Gene=SMYD3/NM_022743.2/1;CC=c.51+246C>T;VC=Intron;Gene=SMYD3/NM_001167740.1/0;CC=c.228+246C>T;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,G:4:4:0:0:3,1:98,9:10.31,0.00:10.31,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:32.7,59.0:0,0:0,0:44,36:107,114:35,0:NM_001167740.1(SMYD3) c.228+246C>T,-:0.74,-:NOT_FOUND,- 1 246518397 . C . . NT END=246670355;NT GT ./. 1 246670140 rs397800996 T TC 32 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;Gene=SMYD3/NM_001167740.1/0;CC=c.164+215dupG;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:TC:9:9:9:0:9:278:32.09:32.09:0.00:1.00:1.00:0.00:60:18.0:0:0:65:86:17:NM_001167740.1(SMYD3) c.164+215_164+216insG,NM_001167740.1(SMYD3) c.164+215_164+216insG:0.88,0.88:NOT_FOUND,NOT_FOUND 1 246670281 rs6671418 G C 159 nt VT=SNV;PN=G;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=79;Gene=SMYD3/NM_001167740.1/0;CC=c.164+75C>G;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:40:0:0:43:1383:158.70:142.31:16.39:1.00:1.00:1.00:60:99.5:0:0:56:91:33:NM_001167740.1(SMYD3) c.164+75C>G,NM_001167740.1(SMYD3) c.164+75C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 246670297 rs201911211 CCCT C 22 nt VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=SMYD3/NM_001167740.1/0;CC=c.164+56_164+58delAGG;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCCT,C:48:42:0:10:39,9:1268,281:0.00,22.34:0.00,17.40:0.00,4.94:0.00,0.98:0.00,1.00:0.00,0.54:60,60:96.8,88.6:30,0:0,0:55,65:83,83:33,39:-,NM_001167740.1(SMYD3) c.164+56_164+58delAGG:-,0.65:-,NOT_FOUND 1 246670298 rs150603688 CCT C 80 idl,nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SMYD3/NM_001167740.1/0;CC=c.164+56_164+57delAG;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCT,C:38:33:0:35:13,25:426,787:0.00,80.02:0.00,67.93:0.00,12.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:83.8,96.9:5,0:0,0:104,53:21,92:36,24:-,NM_001167740.1(SMYD3) c.164+56_164+57delAG:-,0.67:-,NOT_FOUND 1 246670299 rs10603677 CT C 8 idl,nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SMYD3/NM_001167740.1/0;CC=c.164+56delA;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:CT,C:13:11:0:39:10,3:324,97:0.00,8.08:0.00,6.97:0.00,1.11:0.00,0.58:0.00,0.91:0.00,0.81:60,60:69.5,131.3:1,0:0,0:111,47:8,99:26,11:-,NM_001167740.1(SMYD3) c.164+56delA:-,0.66:-,NOT_FOUND 1 246670300 rs112001464 T C 43 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SMYD3/NM_001167740.1/0;CC=c.164+56A>G;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:6:0:41:13:371:43.25:15.61:27.64:1.00:1.00:1.00:60:74.1:1:0:8:122:8:NM_001167740.1(SMYD3) c.164+56A>G,NM_001167740.1(SMYD3) c.164+56A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 246670333 rs6426303 A G 222 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.01657,G/0.9834;PC=0.001;Gene=SMYD3/NM_001167740.1/0;CC=c.164+23T>C;VC=Intron;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:49:0:0:66:1913:222.35:142.87:79.48:1.00:1.00:1.00:60:83.6:0:0:47:95:26:NM_001167740.1(SMYD3) c.164+23T>C,NM_001167740.1(SMYD3) c.164+23T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 1 246670481 rs7520453 C G 545 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=144;DB;DBA=NA;PAF=C/0.2514,G/0.7486;PC=0.004;Gene=SMYD3/NM_001167740.1/0;CC=c.39G>C;ProtCh=p.K13N;VC=Missense;DM=SMYD3/SET;DM=SMYD3/zf-MYND;DM=SMYD3/zf-MYND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:144:98:0:0:144:4764:544.90:277.64:267.27:1.00:1.00:1.00:60:42.4:0:0:88:61:33:NM_001167740.1(SMYD3) c.39G>C (p.Lys13Asn),NM_001167740.1(SMYD3) c.39G>C (p.Lys13Asn):0.78,0.78:0.77661,0.77661 1 246670520 . C . . NT END=246704332;NT GT ./. 1 246670626 rs58962570 A AGGGGC 123 nt VT=INS;SST=Single;DP=65;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.915;Gene=SMYD3/NM_001167740.1/0;CC=c.-112_-108dupGCCCC;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGGGGC:65:10:40:0:25,40:799,1226:0.00,122.87:0.00,8.46:0.00,114.41:0.00,1.00:0.00,1.00:0.00,1.00:60,70:25.8,5.2:1,0:0,0:135,88:14,63:7,27:-,NM_001167740.1(SMYD3) c.-112_-108dupGCCCC:-,0.79:-,NOT_FOUND 1 246673666 rs10802423 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:5:4:0:0:2,3:68,105:0.00,10.47:0.00,7.01:0.00,3.46:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,35.0:0,0:0,0:63,94:87,57:37,17:-,NM_001167740.1(SMYD3) c.-125-u3022T>C:-,0.76:-,NOT_FOUND 1 246677013 rs112602811 G A 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.154 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:29:0:0:17,13:547,384:53.93,0.00:54.47,0.00:-0.54,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:96.1,54.8:0,0:0,0:41,56:108,95:26,23:NM_001167740.1(SMYD3) c.-125-u6369C>T,-:0.01,-:NOT_FOUND,- 1 246677035 rs3129564 T C 128 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.09964,C/0.9004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A,C:37:36:0:0:1,36:12,1114:0.34,128.08:0.34,120.70:0.00,7.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.0,75.1:0,0:0,0:122,45:29,104:0,29:NM_001167740.1(SMYD3) c.-125-u6391A>G,NM_001167740.1(SMYD3) c.-125-u6391A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 1 246677104 rs3120684 A C 302 nt VT=SNV;PN=C;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.0633,C/0.9367;PC=0.915 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:83:80:0:0:82,1:2635,11:302.17,0.15:283.36,0.15:18.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.5,20.0:0,0:0,0:57,27:93,124:28,0:NM_001167740.1(SMYD3) c.-125-u6460T>G,NM_001167740.1(SMYD3) c.-125-u6460T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 1 246677397 rs10754521 C G 54 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8093,G/0.1907;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:0:0:0:16,17:432,560:0.00,54.20:0.00,0.00:0.00,54.20:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.9,44.7:0,0:0,0:79,101:71,48:45,34:-,NM_001167740.1(SMYD3) c.-125-u6753G>C:-,0.19:-,NOT_FOUND 1 246704505 . C . . NT END=246707822;NT GT ./. 1 246704733 . C CG 28 nt VT=INS;SST=Single;DP=8;NP=201;PC=0.003;Gene=TFB2M/NM_022366.2/1;CC=c.1020-230_1020-229insC;VC=Intron;DM=TFB2M/RrnaAD;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:CG:8:0:8:0:8:243:28.11:0.00:28.11:1.00:0.00:1.00:60:2.6:0:0:82:68:21:NM_022366.2(TFB2M) c.1020-230_1020-229insC,NM_022366.2(TFB2M) c.1020-230_1020-229insC:1,1:NOT_FOUND,NOT_FOUND 1 246707984 . C . . NT END=246711846;NT GT ./. 1 246708165 rs7527607 C T 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1408,T/0.8592;Gene=TFB2M/NM_022366.2/1;CC=c.859-182G>A;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:339:39.14:0.00:39.14:1.00:0.00:1.00:60:61.7:0:0:120:30:17:NM_022366.2(TFB2M) c.859-182G>A,NM_022366.2(TFB2M) c.859-182G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 1 246708208 rs34359087 T A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.03315,A/0.9669,C/.;Gene=TFB2M/NM_022366.2/1;CC=c.859-225A>T;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:117:13.57:0.00:13.57:1.00:0.00:1.00:60:134.0:0:0:88:61:21:NM_022366.2(TFB2M) c.859-225A>T,NM_022366.2(TFB2M) c.859-225A>T:0.92,0.92:NOT_FOUND,NOT_FOUND 1 246708210 rs35870187 C T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03395,T/0.9661;Gene=TFB2M/NM_022366.2/1;CC=c.859-227G>A;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:134.0:0:0:90:59:21:NM_022366.2(TFB2M) c.859-227G>A,NM_022366.2(TFB2M) c.859-227G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 1 246708211 rs75119433 C G 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03375,G/0.9663;Gene=TFB2M/NM_022366.2/1;CC=c.859-228G>C;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,G:4:0:0:0:1,3:10,104:0.00,10.90:0.00,0.00:0.00,10.90:0.00,0.85:0.00,0.00:0.00,0.85:54,60:110.0,142.0:0,0:0,0:55,97:84,52:0,11:-,NM_022366.2(TFB2M) c.859-228G>C:-,0.92:-,NOT_FOUND 1 246711604 rs12735904 T G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5369,G/0.4631;PC=0.002;Gene=TFB2M/NM_022366.2/1;CC=c.858+243A>C;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:190:21.86:21.86:0.00:1.00:1.00:0.00:60:50.0:0:0:39:110:15:NM_022366.2(TFB2M) c.858+243A>C,NM_022366.2(TFB2M) c.858+243A>C:0.43,0.43:NOT_FOUND,NOT_FOUND 1 246711781 rs201979968 T TA 7 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.9874,TA/0.01258;NP=11;Gene=TFB2M/NM_022366.2/1;CC=c.858+65_858+66insT;VC=Intron;DM=TFB2M/RrnaAD;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:T,TA:27:24:3:0:24,3:745,96:0.00,6.95:0.00,7.12:0.00,-0.17:0.00,0.44:0.00,0.87:0.00,0.39:60,60:38.8,35.7:0,0:0,0:56,57:95,94:39,4:-,NM_022366.2(TFB2M) c.858+65_858+66insT:-,0.04:-,NOT_FOUND 1 246711789 rs3124131 T A 100 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4079,A/0.5921;PC=0.144;Gene=TFB2M/NM_022366.2/1;CC=c.858+58A>T;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:24:0:1:29:864:100.05:83.50:16.54:1.00:1.00:1.00:60:41.3:0:0:54:95:34:NM_022366.2(TFB2M) c.858+58A>T,NM_022366.2(TFB2M) c.858+58A>T:0.58,0.58:0.528909,0.528909 1 246711910 . C . . NT END=246714514;NT GT ./. 1 246712033 rs1890160 A G 86 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2747;Gene=TFB2M/NM_022366.2/1;CC=c.796-124T>C;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:0:0:0:23:747:85.65:0.00:85.65:1.00:0.00:1.00:60:44.7:0:0:116:35:25:NM_022366.2(TFB2M) c.796-124T>C,NM_022366.2(TFB2M) c.796-124T>C:1,1:NOT_FOUND,NOT_FOUND 1 246714605 . C . . NT END=246719874;NT GT ./. 1 246720024 . C . . NT END=246720682;NT GT ./. 1 246720174 rs3120710 A G 69 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.007987,G/0.992;NP=1412;PC=0.004;Gene=TFB2M/NM_022366.2/1;CC=c.557-151T>C;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:0:0:0:18:603:68.88:0.00:68.88:1.00:0.00:1.00:60:47.9:0:0:69:81:31:NM_022366.2(TFB2M) c.557-151T>C,NM_022366.2(TFB2M) c.557-151T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 1 246720304 rs187016807 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=TFB2M/NM_022366.2/1;CC=c.557-281C>T;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:8:1:0:0:5,3:169,98:16.99,0.00:3.57,0.00:13.41,0.00:0.97,0.00:0.75,0.00:1.00,0.00:60,60:43.0,22.0:0,0:0,0:58,141:93,9:51,1:NM_022366.2(TFB2M) c.557-281C>T,-:0.0005,-:NOT_FOUND,- 1 246720798 rs3124071 G A 326 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=3468;PC=0.200;Gene=TFB2M/NM_022366.2/1;CC=c.441C>T;ProtCh=p.I147=;VC=Silent;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:89:49:0:0:89:2832:325.52:130.70:194.82:1.00:1.00:1.00:60:37.2:0:0:76:69:38:NM_022366.2(TFB2M) c.=,NM_022366.2(TFB2M) c.=:1,1:0.999923,0.999923 1 246720837 . C . . NT END=246727647;NT GT ./. 1 246727558 rs3120713 G T 64 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.007788,T/0.9922;Gene=TFB2M/NM_022366.2/1;CC=c.402+90C>A;VC=Intron;DM=TFB2M/RrnaAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:18:0:0:18:557:64.22:62.29:1.94:1.00:1.00:1.00:60:40.2:0:0:64:86:29:NM_022366.2(TFB2M) c.402+90C>A,NM_022366.2(TFB2M) c.402+90C>A:0.99,0.99:NOT_FOUND,NOT_FOUND 1 246727737 . C . . NT END=246729127;NT GT ./. 1 246729441 . G . . NT END=246733175;NT GT ./. 1 246733293 . G . . NT END=246754813;NT GT ./. 1 246754778 rs534151181 G GA 55 nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.5393,GA/0.4607;DB;DBA=NA;PAF=G/0.5393,GA/0.4607;DB;DBA=NA;PAF=G/0.5393,GA/0.4607;NP=1540;PC=0.739;Gene=CNST/NM_001139459.1/0;CC=c.-51-32dupA;VC=Intron;Gene=CNST/NM_152609.2/1;CC=c.-51-32dupA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:45:40:19:0:26,19:904,591:0.00,54.85:0.00,42.83:0.00,12.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,5.3:0,0:0,0:51,50:96,101:18,32:-,NM_152609.2(CNST) c.-51-36_-51-35insA:-,NOT_FOUND:-,NOT_FOUND 1 246755124 rs6702823 T C 408 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.1166,C/0.8834;Gene=CNST/NM_001139459.1/0;CC=c.260T>C;ProtCh=p.L87S;VC=Missense;Gene=CNST/NM_152609.2/1;CC=c.260T>C;ProtCh=p.L87S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:116:60:0:0:115,1:3555,9:408.35,0.00:155.57,0.00:252.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,126.0:0,0:0,0:78,77:71,33:32,0:NM_152609.2(CNST) c.260T>C (p.Leu87Ser),NM_152609.2(CNST) c.260T>C (p.Leu87Ser):0.89,0.89:0.884592,0.884592 1 246755244 . G . . NT END=246784730;NT GT ./. 1 246784937 . G . . NT END=246795195;NT GT ./. 1 246785113 rs6699673 A C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5907,C/0.4093;PC=0.010;Gene=CNST/NM_001139459.1/0;CC=c.585+177A>C;VC=Intron;Gene=CNST/NM_152609.2/1;CC=c.585+177A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,C:6:0:0:0:2,4:57,109:0.00,11.12:0.00,0.00:0.00,11.12:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,63.5:0,0:0,0:131,100:20,46:10,22:-,NM_152609.2(CNST) c.585+177A>C:-,0.39:-,NOT_FOUND 1 246794947 rs6701256 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4099,A/0.5901;Gene=CNST/NM_001139459.1/0;CC=c.586-249G>A;VC=Intron;Gene=CNST/NM_152609.2/1;CC=c.586-249G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:5:0:0:3,2:76,68:7.53,0.00:7.53,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:58.7,13.5:0,0:0,0:76,50:75,99:3,4:NM_152609.2(CNST) c.586-249G>A,-:0.56,-:NOT_FOUND,- 1 246795227 . G . . NT END=246797225;NT GT ./. 1 246797313 . G . . NT END=246797774;NT GT ./. 1 246797710 rs35650980 G T 30 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5938,T/0.4062;PC=0.007;Gene=CNST/NM_001139459.1/0;CC=c.704-65G>T;VC=Intron;Gene=CNST/NM_152609.2/1;CC=c.704-65G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:18:0:0:8,10:266,302:0.00,29.55:0.00,29.55:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,51.7:0,9:0,0:42,34:108,114:23,11:-,NM_152609.2(CNST) c.704-65G>T:-,0.4:-,NOT_FOUND 1 246797714 rs372864418 G GT 28 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.603,GT/0.397;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1044;PC=0.002;Gene=CNST/NM_001139459.1/0;CC=c.704-54dupT;VC=Intron;Gene=CNST/NM_152609.2/1;CC=c.704-54dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:18:18:9:0:7,2,9:223,40,290:0.00,2.70,28.48:0.00,2.70,26.69:0.00,0.00,1.79:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.67:60,60,60:0.0,88.5,37.8:0,0,0:0,0,0:42,69,38:108,58,113:14,35,12:-,NM_152609.2(CNST) c.704-61_704-60insT:-,NOT_FOUND:-,NOT_FOUND 1 246797890 . G . . NT END=246805050;NT GT ./. 1 246797974 rs6680646 T A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5938,A/0.4062;PC=0.003;Gene=CNST/NM_001139459.1/0;CC=c.818+85T>A;VC=Intron;Gene=CNST/NM_152609.2/1;CC=c.818+85T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,T:13:0:0:0:5,8:161,262:14.72,0.00:0.00,0.00:14.72,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:41.0,0.0:0,0:0,0:128,102:23,48:15,24:NM_152609.2(CNST) c.818+85T>A,-:0.4,-:NOT_FOUND,- 1 246805073 . G . . NT END=246805242;NT GT ./. 1 246805340 . G . . NT END=246810440;NT GT ./. 1 246805433 . TG T 10 nt VT=DEL;SST=Single;DP=13;NP=55;Gene=CNST/NM_001139459.1/0;CC=c.937+96delG;VC=Intron;Gene=CNST/NM_152609.2/1;CC=c.937+96delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:TG,T:12:0:0:5:8,4:260,143:0.00,10.18:0.00,0.00:0.00,10.18:0.00,0.79:0.00,0.00:0.00,0.79:60,70:4.9,49.0:1,1:0,0:136,79:14,70:7,12:-,NM_152609.2(CNST) c.937+95delG:-,NOT_FOUND:-,NOT_FOUND 1 246811545 . C . . NT END=246823500;NT GT ./. 1 246811696 rs11802065 A G 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.603,G/0.397;Gene=CNST/NM_152609.2/1;CC=c.1836+357A>G;VC=Intron;DM=CNST/Consortin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G:8:0:0:0:4,4:106,117:0.00,11.18:0.00,0.00:0.00,11.18:0.00,0.87:0.00,0.00:0.00,0.87:60,60:58.5,35.0:0,0:0,0:125,43:25,107:8,26:-,NM_152609.2(CNST) c.1836+357A>G:-,0.38:-,NOT_FOUND 1 246811704 rs3129557 C T 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6715,T/0.3285;Gene=CNST/NM_152609.2/1;CC=c.1836+365C>T;VC=Intron;DM=CNST/Consortin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:8:0:0:0:4,4:128,112:0.00,10.70:0.00,0.00:0.00,10.70:0.00,0.87:0.00,0.00:0.00,0.87:60,60:35.0,58.5:0,0:0,0:51,133:99,17:26,8:-,NM_152609.2(CNST) c.1836+365C>T:-,0.36:-,NOT_FOUND 1 246823637 . G . . NT END=246829001;NT GT ./. 1 246829208 . C . . NT END=246887724;NT GT ./. 1 246859891 rs7517375 C T 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.02117,T/0.9788;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:38.8:0:0:48:103:42:chr1 g.246859890C>T (intergenic),chr1 g.246859890C>T (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 1 246859905 rs77349150 CA C 21 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CA/0.744,C/0.256;NP=2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:6:6:183:21.16:21.16:0.00:1.00:1.00:0.00:70:30.5:0:0:19:122:13:chr1 g.246859906delA (intergenic),chr1 g.246859906delA (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 1 246860063 rs67940973 TAGGC T 10 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=114;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:TAGGC,T:13:7:0:6:9,4:268,117:0.00,10.12:0.00,2.53:0.00,7.60:0.00,0.79:0.00,0.90:0.00,0.95:60,60:43.3,69.5:0,0:0,0:79,84:62,45:20,8:-,chr1 g.246860064_246860067delAGGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 246860094 rs569645328 GTGTGTGTC G 15 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=100;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:GTGTGTGTC,G:17:9:0:7:12,5:389,169:0.00,14.82:0.00,4.49:0.00,10.33:0.00,0.88:0.00,0.93:0.00,0.99:60,60:70.8,14.0:1,0:0,0:94,110:27,33:30,16:-,chr1 g.246860095_246860102delTGTGTGTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 246860102 rs9426211 C G 40 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=101 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:6:0:8:11:350:40.20:13.27:26.93:1.00:1.00:1.00:60:79.3:1:0:104:14:22:chr1 g.246860101C>G (intergenic),chr1 g.246860101C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 246860213 rs61202512 A C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4896,C/0.5104 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,C:7:1:0:0:4,3:120,100:0.00,9.36:0.00,-0.24:0.00,9.60:0.00,0.69:0.00,0.62:0.00,0.95:60,60:46.5,77.3:0,0:0,0:138,143:11,8:10,4:-,chr1 g.246860212A>C (intergenic):-,0.52:-,NOT_FOUND 1 246887915 . G . . NT END=246890193;NT GT ./. 1 246888053 rs10754532 A G 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6036,G/0.3964;Gene=SCCPDH/NM_016002.2/1;CC=c.190+139A>G;VC=Intron;DM=SCCPDH/Sacchrp_dh_NADP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:0:0:0:14,13:472,366:0.00,34.65:0.00,0.00:0.00,34.65:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.3,44.3:0,0:0,0:78,121:73,30:24,15:-,NM_016002.2(SCCPDH) c.190+139A>G:-,0.39:-,NOT_FOUND 1 246888172 rs61852474 T C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7851,C/0.2149;PC=0.004;Gene=SCCPDH/NM_016002.2/1;CC=c.190+258T>C;VC=Intron;DM=SCCPDH/Sacchrp_dh_NADP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:0:0:0:3,2:86,70:8.57,0.00:0.00,0.00:8.57,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:69.7,28.0:0,0:0,0:98,102:52,47:35,8:NM_016002.2(SCCPDH) c.190+258T>C,-:0.22,-:NOT_FOUND,- 1 246890307 . G . . NT END=246899276;NT GT ./. 1 246899358 . G . . NT END=246903473;NT GT ./. 1 246903604 . G . . NT END=246907377;NT GT ./. 1 246903654 rs3007322 G C 66 nt VT=SNV;PN=G;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.7384,A/.,C/0.2616,T/.;Gene=SCCPDH/NM_016002.2/1;CC=c.514+51G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:43:18:0:0:21,22:687,716:65.76,0.00:19.76,0.00:46.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,2.3:0,0:0,0:94,110:56,40:24,29:NM_016002.2(SCCPDH) c.514+51G>C,-:0.27,-:0.288462,- 1 246907428 . G . . NT END=246921527;NT GT ./. 1 246921659 . G . . NT END=246922335;NT GT ./. 1 246922454 . G . . NT END=246923258;NT GT ./. 1 246923379 . G . . NT END=246923472;NT GT ./. 1 246923530 . G . . NT END=246927547;NT GT ./. 1 246927660 . G . . NT END=246929359;NT GT ./. 1 246929442 . G . . NT END=246930496;NT GT ./. 1 246929483 rs12144408 A G 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.7023,G/0.2977;Gene=SCCPDH/NM_016002.2/1;CC=c.1184+42A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:4:0:0:7,17:232,586:0.00,60.42:0.00,5.31:0.00,55.11:0.00,1.00:0.00,0.99:0.00,1.00:60,60:34.3,37.1:0,0:0,0:118,89:32,61:14,20:-,NM_016002.2(SCCPDH) c.1184+42A>G:-,0.3:-,0.33869 1 246930603 . A . . NT END=246935138;NT GT ./. 1 246935294 . C . . NT END=246939364;NT GT ./. 1 246937460 rs199671457 GGGGTGT G 9 sb;idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=16;PC=0.157;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:5:0:7:3:156:9.33:1.54:7.79:0.73:0.96:0.94:70:80.3:3:0:34:75:8:XM_001717074.4(LOC100130097) c.1535-1686_1535-1681delACACCC,XM_001717074.4(LOC100130097) c.1535-1686_1535-1681delACACCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 246939178 rs12085330 G A 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7462,A/0.2538 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:A,G:11:11:0:0:6,5:199,172:19.47,0.00:19.47,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:80.8,0.0:0,0:0,0:46,45:105,105:19,1:XM_001717074.4(LOC100130097) c.1534+47C>T,-:0.26,-:NOT_FOUND,- 1 246939222 rs6426334 A C 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5238,C/0.4762;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:19:0:0:7,12:221,409:0.00,41.19:0.00,41.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,92.0:0,0:0,0:89,35:61,115:33,20:-,XM_001717074.4(LOC100130097) c.1534+3T>G:-,0.47:-,NOT_FOUND 1 246939277 rs6664883 G A 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7153,A/0.2847 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:33:0:0:19,14:639,416:63.20,0.00:59.46,0.00:3.74,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:71.4,5.8:0,0:0,0:72,36:78,112:32,19:XM_001717074.4(LOC100130097) c.1482C>T (p.(=)),-:0.29,-:NOT_FOUND,- 1 246939513 rs3795467 G A 169 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.7939,A/0.2061;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:117:71:0:0:56,61:1771,1870:168.84,0.00:73.80,0.00:95.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,8.7:0,0:0,0:84,65:63,79:27,35:XM_001717074.4(LOC100130097) c.1298C>T (p.Ala433Val),-:0.21,-:NOT_FOUND,- 1 246939556 . C . . NT END=246939847;NT GT ./. 1 246939610 rs56887415 A ATATT 80 nt VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.5248,ATATT/0.4752;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5248,ATATT/0.4752;NP=113;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,ATATT:66:26:28:0:37,1,28:1125,32,863:0.00,1.62,80.40:0.00,1.80,33.71:0.00,-0.19,46.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.6,32.0,13.2:1,0,0:0,0,0:98,0,98:53,151,52:36,0,28:-,XM_001717074.4(LOC100130097) c.1256-56_1256-55insAATA:-,NOT_FOUND:-,NOT_FOUND 1 246939856 rs3795465 G A 88 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.5258,A/0.4742 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:83:64:0:0:30,53:968,1793:87.54,0.00:47.89,0.00:39.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,2.0:0,0:0,0:74,67:75,78:43,38:XM_001717074.4(LOC100130097) c.1241C>T (p.Thr414Ile),-:0.47,-:NOT_FOUND,- 1 246939943 rs6685364 T C 91 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.726,C/0.274;PC=0.806 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:78:48:0:0:1,30,47:12,989,1556:-0.07,90.86,0.00:0.08,47.31,0.00:-0.16,43.55,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:232.0,52.8,5.6:0,0,0:0,0,0:70,63,93:76,87,56:0,31,35:XM_001717074.4(LOC100130097) c.1154A>G (p.Lys385Arg),-:0.28,-:NOT_FOUND,- 1 246939983 . C . . NT END=246940231;NT GT ./. 1 246940179 rs3795464 G A 80 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.7458,A/0.2542 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:53:0:0:26,37:860,1063:79.95,0.00:62.14,0.00:17.81,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:71.1,6.6:0,0:0,0:42,85:109,66:27,36:XM_001717074.4(LOC100130097) c.1110+57C>T,-:0.26,-:NOT_FOUND,- 1 246940182 rs3795463 C A 82 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.7079,A/0.2921 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:52:0:0:26,35:879,1068:82.27,0.00:64.66,0.00:17.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.1,5.1:0,0:0,0:45,81:106,70:27,38:XM_001717074.4(LOC100130097) c.1110+54G>T,-:0.3,-:NOT_FOUND,- 1 246940343 . C . . NT END=246940575;NT GT ./. 1 246940442 rs3795462 T C 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.5246,C/0.4754 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:20:0:0:20,29:607,896:55.86,0.00:21.34,0.00:34.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,13.3:0,0:0,0:82,91:68,60:35,31:XM_001717074.4(LOC100130097) c.1004-100A>G,-:0.47,-:NOT_FOUND,- 1 246940743 . C . . NT END=246942114;NT GT ./. 1 246940790 rs72448872 TAAAGA T 53 nt VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=TAAAGA/0.7909,T/0.2091;DB;DBA=NA;PAF=TAAAGA/0.7909,T/0.2091;NP=36;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAAGA,T:48:15:0:19:29,19:900,581:0.00,53.17:0.00,9.94:0.00,43.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.4,4.5:0,0:0,0:119,113:30,37:22,13:-,XM_001717074.4(LOC100130097) c.837-53_837-49delTCTTT:-,0.21:-,NOT_FOUND 1 246940826 rs4926454 G C 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.7111,A/.,C/0.2889 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:27:8:0:0:12,15:370,503:34.63,0.00:9.11,0.00:25.52,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:56.7,7.2:0,0:0,0:106,105:44,46:14,40:XM_001717074.4(LOC100130097) c.837-84C>G,-:0.29,-:NOT_FOUND,- 1 246940864 rs4244627 A G 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7149,G/0.2851 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:3:0:0:11,10:332,266:0.00,25.02:0.00,5.08:0.00,19.94:0.00,1.00:0.00,0.87:0.00,1.00:60,60:10.7,66.1:0,0:0,0:87,119:64,31:26,25:-,XM_001717074.4(LOC100130097) c.837-122T>C:-,0.29:-,NOT_FOUND 1 246940928 rs4926455 T A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7109,A/0.2891 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,T:10:0:0:0:5,5:167,156:16.08,0.00:0.00,0.00:16.08,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:60.4,14.6:0,0:0,0:67,100:83,51:7,8:XM_001717074.4(LOC100130097) c.837-186A>T,-:0.29,-:NOT_FOUND,- 1 246942159 rs7512440 G A 142 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.7909,A/0.2091 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:113:81:0:0:47,1,64,1:1525,11,2028,13:142.08,-0.14,0.00,-0.07:73.12,-0.01,0.00,-0.13:68.96,-0.12,0.00,0.06:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:37.7,50.0,6.2,223.0:0,0,0,0:0,0,0,0:81,107,86,148:67,44,61,-1:38,0,34,0:XM_001717074.4(LOC100130097) c.792C>T (p.(=)),-:0.22,-:NOT_FOUND,- 1 246942250 . C . . NT END=246943596;NT GT ./. 1 246943872 . C . . NT END=246949294;NT GT ./. 1 246949200 rs61852523 T C 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=50 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:10,7:299,236:29.64,0.00:29.64,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:90.4,33.0:0,0:0,0:40,34:97,117:18,25:NR_015422.1(LOC149134) n.-3719T>C,-:NOT_FOUND,-:NOT_FOUND,- 1 246949223 rs12568205 G A 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=324 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:22:22:0:0:11,10,1:347,264,11:33.66,0.00,0.20:33.66,0.00,0.20:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,13:72.0,48.6,32.0:0,0,0:0,0,0:42,44,69:109,106,45:24,24,0:NR_015422.1(LOC149134) n.-3696G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 246949298 rs61852525 G A 50 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.7903,A/0.2097,C/.;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:37:0:0:17,29:555,937:50.44,0.00:33.70,0.00:16.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,10.5:0,0:0,0:62,34:86,115:28,19:NR_015422.1(LOC149134) n.-3621G>A,-:NOT_FOUND,-:NOT_FOUND,- 1 246949403 . C . . NT END=246950277;NT GT ./. 1 246949434 rs12049149 T C 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4481,C/0.5519 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:20:0:0:18,22:571,743:53.73,0.00:19.62,0.00:34.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,4.2:0,0:0,0:113,80:35,69:17,39:NR_015422.1(LOC149134) n.-3485T>C,-:0.55,-:NOT_FOUND,- 1 246950177 rs4511163 G C 115 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:30:0:0:30:1010:115.31:115.31:0.00:1.00:1.00:0.00:60:43.3:0:0:34:116:26:NR_015422.1(LOC149134) n.-2742G>C,NR_015422.1(LOC149134) n.-2742G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 1 246950231 rs12142760 G A 53 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.723,A/0.277 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:50:0:0:20,35:587,1112:52.57,0.00:53.94,0.00:-1.37,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:49.4,21.5:0,0:0,0:37,46:113,105:23,28:NR_015422.1(LOC149134) n.-2688G>A,-:0.28,-:NOT_FOUND,- 1 246950396 . C . . NT END=246952888;NT GT ./. 1 246950449 . A AT 27 idl,rn VT=INS;SST=Single;DP=73;NP=1;PC=0.002;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,AT,D:67:28:11:13:49,11,7:1419,340,396:0.00,26.76,15.99:0.00,3.34,3.33:0.00,23.42,12.66:0.00,0.99,0.00:0.00,0.97,0.00:0.00,1.00,0.00:60,70,60:20.0,32.0,22.7:2,0,6:0,0,0:122,107,104:22,43,44:18,19,13:-,NR_015422.1(LOC149134) n.-2470_-2469insT:-,NOT_FOUND:-,NOT_FOUND 1 246950717 rs34989088 G C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7095,C/0.2905;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:C,G:5:0:0:0:3,2:107,40:10.71,0.00:0.00,0.00:10.71,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:35.7,47.0:0,0:0,0:90,110:60,40:46,18:NR_015422.1(LOC149134) n.-2202G>C,-:0.29,-:NOT_FOUND,- 1 246952801 rs4472790 G T 195 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.04273,T/0.9573;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:T:55:49:0:0:55:1685:194.61:157.04:37.57:1.00:1.00:1.00:60:41.7:0:0:48:103:31:NR_015422.1(LOC149134) n.-118G>T,NR_015422.1(LOC149134) n.-118G>T:0.97,0.97:NOT_FOUND,NOT_FOUND 1 246953034 . C . . NT END=246953972;NT GT ./. 1 246953304 rs10802444 A C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.04533,C/0.9547;PC=0.006;Gene=LINC01341/NR_015422.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:117:14.01:0.00:14.01:1.00:0.00:1.00:60:76.0:0:0:56:66:23:NR_015422.1(LOC149134) n.82+304A>C,NR_015422.1(LOC149134) n.82+304A>C:0.95,0.95:NOT_FOUND,NOT_FOUND 1 246954097 . C . . NT END=246955578;NT GT ./. 1 246954165 rs12132038 C T 107 nt VT=SNV;PN=T;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.7658,T/0.2342;Gene=LINC01341/NR_015422.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:26:0:0:22,35:705,1068:0.00,106.90:0.00,32.02:0.00,74.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.5,49.8:0,0:0,0:103,102:47,44:18,27:-,NR_015422.1(LOC149134) n.500C>T:-,0.23:-,NOT_FOUND 1 246954166 rs6694274 A G 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.7835,G/0.2165;Gene=LINC01341/NR_015422.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:56:26:0:0:33,22,1:1024,706,8:0.00,64.97,-0.16:0.00,16.78,0.02:0.00,48.19,-0.18:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:45.2,39.2,102.0:0,0,0:0,0,0:88,97,70:48,51,62:30,25,0:-,NR_015422.1(LOC149134) n.501A>G:-,0.21:-,NOT_FOUND 1 246954297 rs6680122 G A 58 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3638,A/0.6362;Gene=LINC01341/NR_015422.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:0:0:0:15:507:57.82:0.00:57.82:1.00:0.00:1.00:60:46.9:0:0:102:49:27:NR_015422.1(LOC149134) n.632G>A,NR_015422.1(LOC149134) n.632G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 1 246955634 . C . . NT END=246957521;NT GT ./. 1 246955731 rs41308152 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7664,A/0.2336 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:A,G:19:4:0:0:6,13:197,435:17.42,0.00:-0.33,0.00:17.75,0.00:0.94,0.00:0.78,0.00:0.94,0.00:60,60:32.8,2.7:0,0:0,0:110,106:40,45:19,35:chr1 g.246955730G>A (intergenic),-:0.22,-:NOT_FOUND,- 1 246957417 rs72191060 AGGGAGGGGAGAGCAGGGGCAGG A 8 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AGGGAGGGGAGAGCAGGGGCAGG/0.9607,A/0.03934;DB;DBA=NA;PAF=AGGGAGGGGAGAGCAGGGGCAGG/0.9607,A/0.03934;NP=2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:AGGGAGGGGAGAGCAGGGGCAGG,A:10:10:0:3:7,3:179,94:0.00,8.19:0.00,8.19:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,70:56.6,36.3:0,0:0,0:43,25:106,126:34,25:-,chr1 g.246957418_246957439delGGGAGGGGAGAGCAGGGGCAGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 246957514 rs12075623 C G 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7905,G/0.2095 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:41:0:0:24,17:801,493:0.00,45.30:0.00,39.20:0.00,6.09:0.00,1.00:0.00,1.00:0.00,1.00:60,70:4.4,57.5:0,0:0,0:36,54:99,77:21,21:-,chr1 g.246957513C>G (intergenic):-,0.2:-,NOT_FOUND 1 246957650 . A . . NT END=246958744;NT GT ./. 1 246958638 rs74152706 C G 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8976,G/0.1024;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:24:0:0:11,13:357,391:0.00,38.08:0.00,38.25:0.00,-0.17:0.00,1.00:0.00,1.00:0.00,0.69:60,60:25.8,50.0:0,0:0,0:43,57:108,93:20,34:-,chr1 g.246958637C>G (intergenic):-,0.09:-,NOT_FOUND 1 246958827 . C . . NT END=246960700;NT GT ./. 1 246960463 rs7551836 A G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1324,G/0.8676 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:64.6:0:0:40:108:7:chr1 g.246960462A>G (intergenic),chr1 g.246960462A>G (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 246960811 . C . . NT END=246963005;NT GT ./. 1 246962909 rs531742456 C T 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.6913,T/0.3081;DB;DBA=NA;PAF=C/0.6913,CT/0.000599 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:23:0:0:13,11:405,358:0.00,33.86:0.00,30.66:0.00,3.21:0.00,1.00:0.00,1.00:0.00,0.76:60,60:11.5,54.5:0,0:0,0:35,50:116,101:27,26:-,chr1 g.246962908C>T (intergenic):-,0.3:-,NOT_FOUND 1 246963074 . C . . NT END=246965519;NT GT ./. 1 246963137 rs12566739 C G 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.6961,G/0.3039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:28:0:0:24,22:759,701:0.00,66.73:0.00,31.52:0.00,35.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,35.3:0,0:0,0:116,104:34,45:18,19:-,chr1 g.246963136C>G (intergenic):-,0.3:-,NOT_FOUND 1 246965334 rs7520393 A G 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4415,G/0.5585;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:213:24.64:24.64:0.00:1.00:1.00:0.00:60:38.3:0:0:75:58:27:chr1 g.246965333A>G (intergenic),chr1 g.246965333A>G (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 1 246965505 rs398074824 GA G 147 nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=GA/0.1468,G/0.8532;DB;DBA=NA;PAF=GA/0.1468,G/0.8532;NP=7;PC=0.694;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:GA,G:43:35:0:41:2,41:27,1309:0.00,147.17:0.00,87.15:0.00,60.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:102.0,5.3:0,0:0,0:145,74:-1,77:2,38:chr1 g.246965506delA (intergenic),chr1 g.246965506delA (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 246965632 . C . . NT END=246970522;NT GT ./. 1 246970678 . C . . NT END=246973110;NT GT ./. 1 246970737 rs7553726 G A 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.5962,A/0.4038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:64:18:0:0:30,1,33:930,6,964:88.33,-0.18,0.00:19.19,-0.04,0.00:69.14,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,70:43.0,35.0,15.0:0,0,0:0,0,0:105,35,113:40,115,31:17,0,26:chr1 g.246970736G>A (intergenic),-:0.4,-:NOT_FOUND,- 1 246970765 rs11331694 CT C 21 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,C:32:7:0:18:1,22,9:9,596,443:-0.07,0.00,20.98:-0.06,0.00,0.70:-0.01,0.00,20.28:0.00,0.00,0.99:0.00,0.00,0.81:0.00,0.00,1.00:60,60,70:35.0,25.6,74.7:0,0,7:0,0,0:141,130,99:3,19,43:0,14,25:-,chr1 g.246970766delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 246972927 rs4971274 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4882,C/0.5118;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:C,T:9:9:0:0:5,4:154,129:15.10,0.00:15.10,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:40.0,47.0:0,0:0,0:75,64:68,79:8,47:chr1 g.246972926T>C (intergenic),-:0.51,-:NOT_FOUND,- 1 246973336 . C . . NT END=246978548;NT GT ./. 1 246978585 . C . . NT END=246983979;NT GT ./. 1 246984183 . C . . NT END=246993202;NT GT ./. 1 246984312 rs3007300 G A 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6422,A/0.3578 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:12,8:379,255:37.77,0.00:0.00,0.00:37.77,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:57.0,2.8:0,0:0,0:118,72:32,77:20,42:chr1 g.246984311G>A (intergenic),-:0.33,-:NOT_FOUND,- 1 246984343 rs36063237 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.741,T/0.259;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:8,6:218,198:0.00,18.53:0.00,0.00:0.00,18.53:0.00,0.96:0.00,0.00:0.00,0.96:60,60:10.2,79.7:0,0:0,0:76,116:72,35:27,26:-,chr1 g.246984342C>T (intergenic):-,0.25:-,NOT_FOUND 1 246984369 rs71566670 G GA 12 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7434,GA/0.2566;NP=381;PC=0.005;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:G,GA:12:0:4:0:8,4:244,130:0.00,11.60:0.00,0.00:0.00,11.60:0.00,0.98:0.00,0.00:0.00,0.98:60,60:22.9,55.2:0,0:0,0:102,102:46,48:27,21:-,chr1 g.246984369_246984370insA (intergenic):-,0.25:-,NOT_FOUND 1 246993123 rs2996544 A G 124 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.07808,G/0.9219 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:33:0:0:34:1077:123.81:118.09:5.72:1.00:1.00:1.00:60:35.8:0:0:40:111:21:chr1 g.246993122A>G (intergenic),chr1 g.246993122A>G (intergenic):0.93,0.93:NOT_FOUND,NOT_FOUND 1 246993398 . C . . NT END=247002832;NT GT ./. 1 247002890 . T . . NT END=247004107;NT GT ./. 1 247004301 . C . . NT END=247005995;NT GT ./. 1 247006079 . C . . NT END=247007096;NT GT ./. 1 247007042 rs71680437 TA T 111 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1289;Gene=AHCTF1/NM_015446.4/1;CC=c.6552+54delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:30:0:32:32:956:110.82:85.48:25.34:1.00:1.00:1.00:60:10.5:0:0:42:108:27:NM_015446.4(AHCTF1) c.6552+54delT,NM_015446.4(AHCTF1) c.6552+54delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 247007231 . C . . NT END=247012916;NT GT ./. 1 247014064 rs144747230 G A 154 lc VT=SNV;PN=C;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.998,A/0.001997;NP=27;PC=0.168;Gene=AHCTF1/NM_015446.4/1;CC=c.5271C>T;ProtCh=p.N1757=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:106:72:0:0:50,56:1617,1707:153.81,0.00:66.51,0.00:87.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,44:37.4,3.8:0,1:0,0:73,81:77,69:42,29:NM_015446.4(AHCTF1) c.5271C>T (p.(=)),-:NOT_FOUND,-:0.005933,- 1 247014745 . C . . NT END=247016392;NT GT ./. 1 247016602 . C . . NT END=247019031;NT GT ./. 1 247019130 . C . . NT END=247020992;NT GT ./. 1 247021117 . C . . NT END=247024200;NT GT ./. 1 247021266 rs111386980 C CTTCT 28 idl,nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.03075,CTTCT/0.9692,CTTCTT/.,CTTT/.;NP=1;NP=110;PC=0.001;Gene=AHCTF1/NM_015446.4/1;CC=c.4160-151_4160-150insAGAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,CTTCT:9:1:10:0:1,8:35,317:0.00,27.85:0.00,1.87:0.00,25.98:0.00,1.00:0.00,0.82:0.00,1.00:60,70:0.0,7.1:0,2:0,0:122,114:29,36:0,25:-,NM_015446.4(AHCTF1) c.4160-151_4160-150insAGAA:-,NOT_FOUND:-,NOT_FOUND 1 247024598 . C . . NT END=247025260;NT GT ./. 1 247025456 . C . . NT END=247027225;NT GT ./. 1 247027419 . C . . NT END=247030545;NT GT ./. 1 247030654 . C . . NT END=247030962;NT GT ./. 1 247031114 . C . . NT END=247039338;NT GT ./. 1 247031203 rs368941568 C A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9447,A/0.05531;NP=129;NP=3;PC=0.278;Gene=AHCTF1/NM_015446.4/1;CC=c.3116-90G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,D:19:2:0:1:7,11,1:219,301,29:20.02,0.00,1.85:4.11,0.00,0.00:15.90,0.00,1.85:0.98,0.00,0.00:0.67,0.00,0.00:1.00,0.00,0.00:60,60,60:46.3,46.4,48.0:1,0,0:0,0,0:126,99,93:23,46,51:6,23,0:NM_015446.4(AHCTF1) c.3116-90G>T,-:NOT_FOUND,-:NOT_FOUND,- 1 247039490 . C . . NT END=247040251;NT GT ./. 1 247040384 . C . . NT END=247040459;NT GT ./. 1 247040605 . C . . NT END=247048794;NT GT ./. 1 247048983 . C . . NT END=247050512;NT GT ./. 1 247050660 . C . . NT END=247051478;NT GT ./. 1 247051536 . C . . NT END=247051695;NT GT ./. 1 247051820 . C . . NT END=247053267;NT GT ./. 1 247053362 . C . . NT END=247054257;NT GT ./. 1 247054363 . C . . NT END=247055080;NT GT ./. 1 247055222 . C . . NT END=247057960;NT GT ./. 1 247058051 . C . . NT END=247059136;NT GT ./. 1 247059228 . C . . NT END=247061509;NT GT ./. 1 247061639 . C . . NT END=247062752;NT GT ./. 1 247062815 . C . . NT END=247063366;NT GT ./. 1 247063549 . C . . NT END=247063638;NT GT ./. 1 247063772 . C . . NT END=247065826;NT GT ./. 1 247065978 . C . . NT END=247067250;NT GT ./. 1 247067139 rs34620854 CA C 8 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=50;PC=0.057;Gene=AHCTF1/NM_015446.4/1;CC=c.993+111delT;VC=Intron;DM=AHCTF1/ELYS-bb;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CA,I,C:9:11:1:5:5,1,3:157,33,154:0.00,2.53,7.65:0.00,2.53,7.65:0.00,0.00,0.00:0.00,0.00,0.60:0.00,0.00,0.60:0.00,0.00,0.00:60,60,60:7.8,166.0,54.0:0,0,2:0,0,0:137,11,18:13,139,133:8,0,16:-,NM_015446.4(AHCTF1) c.993+111delT:-,NOT_FOUND:-,NOT_FOUND 1 247067336 . C . . NT END=247068842;NT GT ./. 1 247068960 . C . . NT END=247070852;NT GT ./. 1 247071061 . C . . NT END=247076533;NT GT ./. 1 247076715 . C . . NT END=247079443;NT GT ./. 1 247079698 . C . . NT END=247081551;NT GT ./. 1 247081680 . C . . NT END=247094609;NT GT ./. 1 247094630 . G . . NT END=247109098;NT GT ./. 1 247109130 . C . . NT END=247148624;NT GT ./. 1 247149383 . T . . NT END=247149647;NT GT ./. 1 247151558 . C . . NT END=247162649;NT GT ./. 1 247162658 rs2642973 C T 80 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.1689,T/0.8311;PC=0.255;Gene=ZNF695/NM_001204221.1/1;CC=c.251G>A;ProtCh=p.R84K;VC=Missense;Gene=ZNF695/NR_037892.1/0;VC=NonCoding;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF695/NM_020394.4/0;CC=c.251G>A;ProtCh=p.R84K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:43:0:0:34,26:1196,859:0.00,80.47:0.00,46.15:0.00,34.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,36.5:0,0:0,0:60,57:85,90:25,27:-,NM_020394.4(ZNF695) c.=:-,0.89:-,0.829752 1 247162743 . C . . NT END=247163213;NT GT ./. 1 247163187 rs2818870 T C 76 nt VT=SNV;PN=C;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.1801,C/0.8199;PC=0.002;Gene=ZNF695/NM_001204221.1/1;CC=c.166+27A>G;VC=Intron;Gene=ZNF695/NR_037892.1/0;VC=NonCoding;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF695/NM_020394.4/0;CC=c.166+27A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:47:0:0:27,31:810,1027:76.41,0.00:62.86,0.00:13.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.2,5.8:0,0:0,0:50,55:98,95:24,36:NM_020394.4(ZNF695) c.166+27A>G,-:0.88,-:0.81782,- 1 247163377 . C . . NT END=247171207;NT GT ./. 1 247171211 . T . . NT END=247200750;NT GT ./. 1 247171336 rs61852608 C T 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.9319,T/0.06809;PC=0.004;Gene=ZNF695/NM_001204221.1/1;CC=c.-126G>A;VC=5UTR;Gene=ZNF695/NR_037892.1/0;VC=NonCoding;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF695/NM_020394.4/0;CC=c.-126G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:13:0:0:23,23:731,740:0.00,71.13:0.00,16.43:0.00,54.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,60.1:0,0:0,0:109,110:41,37:34,25:-,NM_020394.4(ZNF695) c.-126G>A:-,0.05:-,NOT_FOUND 1 247171390 rs61373194 C G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.8946,G/0.1054;PC=0.546;Gene=ZNF695/NM_001204221.1/1;CC=c.-180G>C;VC=5UTR;Gene=ZNF695/NR_037892.1/0;VC=NonCoding;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF695/NM_020394.4/0;CC=c.-180G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:1:0:0:16,10:507,292:0.00,26.41:0.00,0.72:0.00,25.69:0.00,1.00:0.00,0.59:0.00,1.00:60,60:10.2,73.5:0,0:0,0:98,109:52,41:30,15:-,NM_020394.4(ZNF695) c.-180G>C:-,0.07:-,NOT_FOUND 1 247195596 rs3122532 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4625,G/0.5375;PC=0.093;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,G:7:5:0:0:3,4:102,111:0.00,10.92:0.00,4.35:0.00,6.57:0.00,0.90:0.00,0.98:0.00,0.99:60,60:0.0,43.2:0,0:0,0:90,96:19,37:10,17:-,NR_037894.1(ZNF670-ZNF695) n.221-32220T>C:-,0.37:-,NOT_FOUND 1 247201730 . C . . NT END=247202111;NT GT ./. 1 247201852 rs2818880 T C 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.4748,C/0.5252;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF670/NM_001204220.1/1;CC=c.192-126A>G;VC=Intron;Gene=ZNF670/NM_033213.4/0;CC=c.192-123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:5:0:0:16,14:450,444:43.51,0.00:8.05,0.00:35.46,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:46.6,5.8:0,0:0,0:100,104:46,46:24,25:NM_033213.4(ZNF670) c.192-123A>G,-:0.47,-:NOT_FOUND,- 1 247202032 rs10924897 G T 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.7216,C/.,T/0.2784;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF670/NM_001204220.1/1;CC=c.191+80C>A;VC=Intron;Gene=ZNF670/NM_033213.4/0;CC=c.191+80C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:13:0:0:10,11:300,329:0.00,31.82:0.00,18.73:0.00,13.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.8,34.8:0,0:0,0:72,56:78,94:29,48:-,NM_033213.4(ZNF670) c.191+80C>A:-,0.26:-,NOT_FOUND 1 247202173 . C . . NT END=247202712;NT GT ./. 1 247202453 rs1973414 T C 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.005591,C/0.9944;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF670/NM_001204220.1/1;CC=c.130+260A>G;VC=Intron;Gene=ZNF670/NM_033213.4/0;CC=c.130+260A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:4:0:0:7:228:26.14:14.21:11.93:1.00:1.00:1.00:60:45.9:0:0:56:93:35:NM_033213.4(ZNF670) c.130+260A>G,NM_033213.4(ZNF670) c.130+260A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 247202840 . C . . NT END=247241895;NT GT ./. 1 247206375 rs2172795 G A 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4982,A/0.5018;PC=0.997;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF670/NM_001204220.1/1;CC=c.4-3536C>T;VC=Intron;Gene=ZNF670/NM_033213.4/0;CC=c.4-3536C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:A,G:15:12:0:0:13,2:458,65:49.44,0.00:23.50,0.00:25.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,0.0:0,0:0,0:56,36:92,114:23,35:NM_033213.4(ZNF670) c.4-3536C>T,-:0.45,-:NOT_FOUND,- 1 247206885 rs7543803 C T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9024,T/0.09764;PC=0.943;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF670/NM_001204220.1/1;CC=c.4-4046G>A;VC=Intron;Gene=ZNF670/NM_033213.4/0;CC=c.4-4046G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:5:0:0:10,6:325,202:0.00,18.47:0.00,3.14:0.00,15.33:0.00,0.95:0.00,0.90:0.00,0.95:60,60:1.2,33.7:0,0:0,0:88,77:62,53:40,31:-,NM_033213.4(ZNF670) c.4-4046G>A:-,0.06:-,NOT_FOUND 1 247241636 rs6689229 C T 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7179,T/0.2821;PC=0.001;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF670/NM_001204220.1/1;CC=c.3+260G>A;VC=Intron;Gene=ZNF670/NM_033213.4/0;CC=c.3+260G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,T:10:10:0:0:4,6:111,150:0.00,14.88:0.00,14.88:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:13.0,48.2:0,0:0,0:67,113:84,38:9,10:-,NM_033213.4(ZNF670) c.3+260G>A:-,0.26:-,NOT_FOUND 1 247241668 rs6701757 A G 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3582,G/0.6418;PC=0.003;Gene=ZNF670-ZNF695/NR_037894.1/0;VC=NonCoding;Gene=ZNF670/NM_001204220.1/1;CC=c.3+228T>C;VC=Intron;Gene=ZNF670/NM_033213.4/0;CC=c.3+228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:15:15:0:0:9,6:266,171:0.00,15.57:0.00,15.57:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:11.3,52.8:0,0:0,0:78,34:73,116:49,25:-,NM_033213.4(ZNF670) c.3+228T>C:-,0.59:-,NOT_FOUND 1 247241899 . T . . NT END=247263675;NT GT ./. 1 247264622 . C . . NT END=247265032;NT GT ./. 1 247264862 rs3736325 C G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5855,G/0.4145;PC=0.086;Gene=ZNF669/NM_001142572.1/0;CC=c.191+171G>C;VC=Intron;Gene=ZNF669/NM_024804.2/1;CC=c.449+171G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,G:19:11:0:0:12,7:331,194:0.00,17.29:0.00,7.96:0.00,9.33:0.00,0.98:0.00,0.99:0.00,0.96:60,60:16.6,69.3:0,0:0,0:119,121:32,28:24,11:-,NM_024804.2(ZNF669) c.449+171G>C:-,0.37:-,NOT_FOUND 1 247265094 . C . . NT END=247265288;NT GT ./. 1 247265416 . C . . NT END=247267240;NT GT ./. 1 247267274 rs4925692 C A 284 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=199;DB;DBA=NA;PAF=C/0.7484,A/0.2516;PC=0.005;Gene=ZNF669/NM_001142572.1/0;CC=c.3+225G>T;VC=Intron;Gene=ZNF669/NM_024804.2/1;CC=c.228G>T;ProtCh=p.E76D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:199:162:0:0:92,106,1:2997,3549,9:284.22,0.00,-0.19:178.45,0.00,-0.12:105.77,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.6,12.3,142.0:0,0,0:0,0,0:54,51,129:95,93,22:32,30,0:NM_024804.2(ZNF669) c.228G>T (p.Glu76Asp),-:0.22,-:0.251577,- 1 247267502 . T . . NT END=247274812;NT GT ./. 1 247267668 rs2270616 G T 62 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.642,T/0.358;PC=0.001;Gene=ZNF669/NM_001142572.1/0;CC=c.-167C>A;VC=5UTR;Gene=ZNF669/NM_024804.2/1;CC=c.-167C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:0:0:0:21,21:711,646:0.00,61.98:0.00,0.00:0.00,61.98:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.9,38.5:0,0:0,0:114,112:37,39:24,32:-,NM_024804.2(ZNF669) c.-167C>A:-,0.31:-,NOT_FOUND 1 247275527 . C . . NT END=247319141;NT GT ./. 1 247275876 rs77398773 C G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9627,G/0.03734;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,G:6:0:0:0:2,4:55,144:0.00,14.65:0.00,0.00:0.00,14.65:0.00,0.93:0.00,0.00:0.00,0.93:60,60:29.0,49.8:0,0:0,0:85,74:65,76:21,18:-,NM_207401.1(C1orf229) c.-193-u157G>C:-,0.04:-,NOT_FOUND 1 247319162 rs35031827 C CA 29 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.7328,CA/0.2672;NP=7;Gene=ZNF124/NM_001243740.2/1;CC=c.218+3145_218+3146insT;VC=Intron;Gene=ZNF124/NM_001297567.1/0;CC=c.218+3145_218+3146insT;VC=Intron;Gene=ZNF124/NM_001297568.1/0;CC=c.*705_*706insT;VC=3UTR;Gene=ZNF124/NM_001297569.1/0;CC=c.*1283_*1284insT;VC=3UTR;Gene=ZNF124/NM_003431.3/0;CC=c.*705_*706insT;VC=3UTR;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:35:33:10:5:2,20,10,3:56,661,329,124:3.56,0.00,29.29,6.54:0.42,0.00,29.57,4.92:3.14,0.00,-0.28,1.63:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.84,0.00:60,60,60,60:65.0,25.9,68.9,45.3:0,0,0,1:0,0,0,0:18,88,35,77:132,51,116,73:18,40,23,27:-,NM_001243740.1(ZNF124) c.218+3145_218+3146insT:-,NOT_FOUND:-,NOT_FOUND 1 247320706 . C . . NT END=247322307;NT GT ./. 1 247322369 . C . . NT END=247322988;NT GT ./. 1 247323170 . C . . NT END=247335149;NT GT ./. 1 247335391 . G . . NT END=247419373;NT GT ./. 1 247353355 rs1115201 G A 519 nt VT=SNV;PN=A;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.6597,A/0.3403 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:152:150:0:0:147,3,2:4547,28,23:518.99,0.00,0.35:511.29,0.00,0.35:7.70,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.1,80.3,52.0:0,0,0:0,0,0:53,69,64:96,81,86:34,20,63:chr1 g.247353354G>A (intergenic),chr1 g.247353354G>A (intergenic):0.38,0.38:NOT_FOUND,NOT_FOUND 1 247419509 rs1778540 T C 292 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.2181,C/0.7819;PC=0.988;Gene=VN1R5/NM_173858.1/1;CC=c.136T>C;ProtCh=p.*46Qext*312;VC=Readthrough GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:48:0:0:76:2560:292.19:138.31:153.88:1.00:1.00:1.00:60:38.6:0:0:75:71:38:NM_173858.1(VN1R5) c.=,NM_173858.1(VN1R5) c.=:0.79,0.79:0.812796,0.812796 1 247419664 rs1778541 C T 327 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.228,T/0.772;PC=0.562;Gene=VN1R5/NM_173858.1/1;CC=c.291C>T;ProtCh=p.T97=;VC=Silent;DM=VN1R5/V1R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:88:62:0:0:1,87:9,2869:0.00,326.67:0.00,202.51:0.00,124.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:82.0,40.4:0,0:0,0:24,71:118,79:0,33:NM_173858.1(VN1R5) c.=,NM_173858.1(VN1R5) c.=:0.78,0.78:0.803028,0.803028 1 247420448 . t . . NT END=247463831;NT GT ./. 1 247464579 . C . . NT END=247470387;NT GT ./. 1 247470187 rs7528202 G A 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.631,A/0.369;Gene=ZNF496/NM_032752.1/1;CC=c.1006+1590C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:300:34.76:34.76:0.00:1.00:1.00:0.00:60:38.7:0:0:36:114:31:NM_032752.1(ZNF496) c.1006+1590C>T,NM_032752.1(ZNF496) c.1006+1590C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 1 247471330 . C . . NT END=247471776;NT GT ./. 1 247471561 rs9426182 C T 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6138,T/0.3862;Gene=ZNF496/NM_032752.1/1;CC=c.1006+216G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:7:0:0:12:356:41.27:24.73:16.54:1.00:1.00:1.00:60:40.0:0:0:54:96:39:NM_032752.1(ZNF496) c.1006+216G>A,NM_032752.1(ZNF496) c.1006+216G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 1 247471891 . C . . NT END=247472740;NT GT ./. 1 247472990 . T . . NT END=247473000;NT GT ./. 1 247473109 . C . . NT END=247473380;NT GT ./. 1 247473476 . T . . NT END=247473625;NT GT ./. 1 247473759 . C . . NT END=247485999;NT GT ./. 1 247479437 rs57316962 G GGTGTGT 11 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;PC=0.001;Gene=ZNF496/NM_032752.1/1;CC=c.652-5680_652-5679insACACAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:G,T,GGTGTGT:8:8:5:0:3,1,4:99,30,149:0.00,2.37,11.33:0.00,-0.13,6.67:0.00,2.50,4.66:0.00,0.00,0.85:0.00,0.00,0.98:0.00,0.00,0.94:60,60,60:19.0,178.0,46.8:0,0,1:0,0,0:110,98,60:38,52,91:26,0,16:-,NM_032752.1(ZNF496) c.652-5680_652-5679insACACAC:-,NOT_FOUND:-,NOT_FOUND 1 247479518 rs68180391 CGT C 26 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=113;PC=0.006;Gene=ZNF496/NM_032752.1/1;CC=c.652-5762_652-5761delAC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:CGT,C:9:5:0:9:1,8:33,258:0.00,25.94:0.00,6.51:0.00,19.43:0.00,1.00:0.00,0.96:0.00,1.00:60,70:48.0,11.5:0,1:0,0:125,67:26,84:0,17:-,NM_032752.1(ZNF496) c.652-5762_652-5761delAC:-,NOT_FOUND:-,NOT_FOUND 1 247485932 rs10924984 A G 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.09884,G/0.9012;Gene=ZNF496/NM_032752.1/1;CC=c.651+524T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:30:0:0:31:972:111.98:101.83:10.14:1.00:1.00:1.00:60:33.0:0:0:28:123:21:NM_032752.1(ZNF496) c.651+524T>C,NM_032752.1(ZNF496) c.651+524T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 1 247486108 . C . . NT END=247486455;NT GT ./. 1 247486533 . C . . NT END=247491984;NT GT ./. 1 247486678 rs7540329 T C 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6044,C/0.3956;PC=0.002;Gene=ZNF496/NM_032752.1/1;CC=c.575-146A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:375:43.69:0.00:43.69:1.00:0.00:1.00:60:32.3:0:0:116:35:18:NM_032752.1(ZNF496) c.575-146A>G,NM_032752.1(ZNF496) c.575-146A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 1 247492169 . C . . NT END=247492490;NT GT ./. 1 247492892 . A . . NT END=247582096;NT GT ./. 1 247493031 rs6674425 C G 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.5942,G/0.4058;PC=0.006;Gene=ZNF496/NM_032752.1/1;CC=c.-37-114G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:0:0:0:22:715:81.92:0.00:81.92:1.00:0.00:1.00:60:42.9:0:0:123:27:22:NM_032752.1(ZNF496) c.-37-114G>C,NM_032752.1(ZNF496) c.-37-114G>C:0.39,0.39:NOT_FOUND,NOT_FOUND 1 247582380 . G . . NT END=247586531;NT GT ./. 1 247582461 rs368835809 TATA T 57 nt VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=9;PC=0.003;Gene=NLRP3/NM_001079821.2/0;CC=c.283+83_283+85delATA;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.283+83_283+85delATA;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.283+83_283+85delATA;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.277+83_277+85delATA;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.283+83_283+85delATA;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.283+83_283+85delATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TATA,T:45:5:0:20:25,20:775,611:0.00,57.22:0.00,4.94:0.00,52.29:0.00,1.00:0.00,0.94:0.00,1.00:60,60:34.5,14.2:0,0:0,0:126,98:25,53:19,35:-,NM_004895.4(NLRP3) c.283+83_283+85delATA:-,NOT_FOUND:-,NOT_FOUND 1 247582466 rs4998423 A T 73 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.3433,T/0.6567;NP=5;PC=0.002;Gene=NLRP3/NM_001079821.2/0;CC=c.283+87A>T;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.283+87A>T;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.283+87A>T;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.277+87A>T;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.283+87A>T;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.283+87A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:39:5:0:0:16,23:505,733:0.00,72.83:0.00,10.47:0.00,62.36:0.00,1.00:0.00,0.99:0.00,1.00:60,60:26.6,20.5:0,20:0,0:93,100:57,51:41,36:-,NM_004895.4(NLRP3) c.283+87A>T:-,NOT_FOUND:-,NOT_FOUND 1 247586652 . G . . NT END=247587148;NT GT ./. 1 247586920 rs4925651 T G 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.08027,G/0.9197;Gene=NLRP3/NM_001079821.2/0;CC=c.404-229T>G;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.404-229T>G;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.404-229T>G;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.398-229T>G;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.404-229T>G;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.404-229T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:5:0:0:13:393:45.47:18.78:26.69:1.00:1.00:1.00:60:42.3:0:0:56:94:43:NM_004895.4(NLRP3) c.404-229T>G,NM_004895.4(NLRP3) c.404-229T>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 247587477 rs3806268 G A 545 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=NA;Gene=NLRP3/NM_001079821.2/0;CC=c.732G>A;ProtCh=p.A244=;VC=Silent;Gene=NLRP3/NM_001127461.2/0;CC=c.732G>A;ProtCh=p.A244=;VC=Silent;Gene=NLRP3/NM_001127462.2/0;CC=c.732G>A;ProtCh=p.A244=;VC=Silent;Gene=NLRP3/NM_001243133.1/0;CC=c.726G>A;ProtCh=p.A242=;VC=Silent;Gene=NLRP3/NM_004895.4/1;CC=c.732G>A;ProtCh=p.A244=;VC=Silent;Gene=NLRP3/NM_183395.2/0;CC=c.732G>A;ProtCh=p.A244=;VC=Silent;DM=NLRP3/NACHT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:149:76:0:0:149:4744:545.20:222.23:322.97:1.00:1.00:1.00:60:62.3:0:0:95:53:36:NM_004895.4(NLRP3) c.732G>A (p.(=)),NM_004895.4(NLRP3) c.732G>A (p.(=)):0.41,0.41:0.405966,0.405966 1 247587531 rs4925543 A G 469 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=A/0.08007,C/.,G/0.9199;PC=0.795;Gene=NLRP3/NM_001079821.2/0;CC=c.786A>G;ProtCh=p.R262=;VC=Silent;Gene=NLRP3/NM_001127461.2/0;CC=c.786A>G;ProtCh=p.R262=;VC=Silent;Gene=NLRP3/NM_001127462.2/0;CC=c.786A>G;ProtCh=p.R262=;VC=Silent;Gene=NLRP3/NM_001243133.1/0;CC=c.780A>G;ProtCh=p.R260=;VC=Silent;Gene=NLRP3/NM_004895.4/1;CC=c.786A>G;ProtCh=p.R262=;VC=Silent;Gene=NLRP3/NM_183395.2/0;CC=c.786A>G;ProtCh=p.R262=;VC=Silent;DM=NLRP3/NACHT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:131:73:0:0:1,130:12,4080:0.13,469.33:0.13,220.18:0.00,249.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:198.0,64.4:0,0:0,0:40,65:107,85:0,36:NM_004895.4(NLRP3) c.=,NM_004895.4(NLRP3) c.=:0.95,0.95:0.918807,0.918807 1 247588053 rs34298354 C T 259 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=177;DB;DBA=NA;PAF=C/0.9343,T/0.06569;PC=0.009;Gene=NLRP3/NM_001079821.2/0;CC=c.1308C>T;ProtCh=p.S436=;VC=Silent;Gene=NLRP3/NM_001127461.2/0;CC=c.1308C>T;ProtCh=p.S436=;VC=Silent;Gene=NLRP3/NM_001127462.2/0;CC=c.1308C>T;ProtCh=p.S436=;VC=Silent;Gene=NLRP3/NM_001243133.1/0;CC=c.1302C>T;ProtCh=p.S434=;VC=Silent;Gene=NLRP3/NM_004895.4/1;CC=c.1308C>T;ProtCh=p.S436=;VC=Silent;Gene=NLRP3/NM_183395.2/0;CC=c.1308C>T;ProtCh=p.S436=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:177:123:0:0:1,93,83:22,2969,2721:0.34,0.00,258.87:0.45,0.00,150.42:-0.11,0.00,108.45:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:190.0,6.8,41.2:0,0,0:0,0,0:75,64,76:76,80,68:0,46,30:-,NM_004895.4(NLRP3) c.1308C>T (p.(=)):-,0.07:-,0.088959 1 247588902 . G . . NT END=247592886;NT GT ./. 1 247593058 . G . . NT END=247597404;NT GT ./. 1 247597176 rs367956369 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NLRP3/NM_001079821.2/0;CC=c.2328-229A>G;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2328-229A>G;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2157-229A>G;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2322-229A>G;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2328-229A>G;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2157-229A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,G:11:11:0:0:8,3:220,81:0.00,6.74:0.00,5.10:0.00,1.64:0.00,0.60:0.00,0.60:0.00,0.56:60,60:42.1,203.7:0,0:0,0:35,38:116,70:18,11:-,NM_004895.4(NLRP3) c.2328-229A>G:-,NOT_FOUND:-,NOT_FOUND 1 247597258 rs10802498 G C 65 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.2646,C/0.7354;PC=0.005;Gene=NLRP3/NM_001079821.2/0;CC=c.2328-147G>C;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2328-147G>C;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2157-147G>C;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2322-147G>C;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2328-147G>C;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2157-147G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:C,G:22:22:0:0:19,3:597,77:65.01,0.00:65.44,0.00:-0.43,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:72.8,171.0:0,0:0,0:53,112:98,-4:31,8:NM_004895.4(NLRP3) c.2328-147G>C,-:0.63,-:NOT_FOUND,- 1 247597329 rs12124866 C T 47 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.08227,T/0.9177;Gene=NLRP3/NM_001079821.2/0;CC=c.2328-76C>T;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2328-76C>T;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2157-76C>T;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2322-76C>T;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2328-76C>T;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2157-76C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:400:47.00:45.07:1.94:1.00:1.00:1.00:60:80.3:0:0:96:46:15:NM_004895.4(NLRP3) c.2328-76C>T,NM_004895.4(NLRP3) c.2328-76C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 1 247597365 rs539490854 G A 205 nt VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.09724,A/0.7887;DB;DBA=NA;PAF=NA;PC=0.075;Gene=NLRP3/NM_001079821.2/0;CC=c.2328-40G>A;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2328-40G>A;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2157-40G>A;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2322-40G>A;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2328-40G>A;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2157-40G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:A:55:51:0:0:55:1787:204.89:147.54:57.35:1.00:1.00:1.00:60:42.5:0:0:33:98:16:NM_004895.4(NLRP3) c.2328-40G>A,NM_004895.4(NLRP3) c.2328-40G>A:0.94,0.94:0.907427,0.907427 1 247597576 . G . . NT END=247599271;NT GT ./. 1 247597656 rs397983662 TG T 166 nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=TG/0.5238,T/0.4762;DB;DBA=NA;PAF=TG/0.5238,T/0.4762;NP=2734;Gene=NLRP3/NM_001079821.2/0;CC=c.2498+85delG;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2498+85delG;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2327+85delG;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2492+85delG;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2498+85delG;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2327+85delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:TG,T:52:9:0:47:5,47:154,1506:0.00,165.87:0.00,10.64:0.00,155.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.2,3.5:1,0:0,0:145,88:6,63:2,30:-,NM_004895.4(NLRP3) c.2498+82delG:-,0.5:-,NOT_FOUND 1 247599070 rs4612666 T C 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4109,C/0.5891;PC=0.004;Gene=NLRP3/NM_001079821.2/0;CC=c.2499-202T>C;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2498+1495T>C;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2328-202T>C;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2493-202T>C;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2499-202T>C;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2327+1495T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:350:40.19:40.19:0.00:1.00:1.00:0.00:60:41.5:0:0:62:88:11:NM_004895.4(NLRP3) c.2499-202T>C,NM_004895.4(NLRP3) c.2499-202T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 1 247599232 rs10754557 G A 292 nt VT=SNV;PN=G;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.516,A/0.484;Gene=NLRP3/NM_001079821.2/0;CC=c.2499-40G>A;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2498+1657G>A;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2328-40G>A;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2493-40G>A;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2499-40G>A;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2327+1657G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:79:68:0:0:78,1:2553,10:291.96,0.13:199.23,0.13:92.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,88.0:0,0:0,0:38,141:105,10:26,0:NM_004895.4(NLRP3) c.2499-40G>A,NM_004895.4(NLRP3) c.2499-40G>A:0.52,0.52:0.496848,0.496848 1 247599443 . G . . NT END=247607273;NT GT ./. 1 247607052 rs10159239 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4036,A/0.5964;Gene=NLRP3/NM_001079821.2/0;CC=c.2670-222G>A;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2499-222G>A;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2499-222G>A;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2664-222G>A;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2670-222G>A;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2328-222G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:5:5:0:0:4,1:133,32:14.12,0.00:14.12,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:57.0,83.0:0,0:0,0:12,119:138,32:7,0:NM_004895.4(NLRP3) c.2670-222G>A,-:0.58,-:NOT_FOUND,- 1 247607445 . G . . NT END=247607952;NT GT ./. 1 247607642 rs12130711 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6665,T/0.3335;Gene=NLRP3/NM_001079821.2/0;CC=c.2840+198C>T;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2669+198C>T;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2669+198C>T;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2834+198C>T;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2840+198C>T;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2498+198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:A,C,T:15:2:0:0:1,9,5:12,275,152:0.32,0.00,13.62:-0.03,0.00,3.12:0.35,0.00,10.49:0.00,0.00,0.89:0.00,0.00,0.63:0.00,0.00,0.99:60,60,60:102.0,6.2,60.8:0,0,0:0,0,0:6,110,37:145,40,114:0,28,16:-,NM_004895.4(NLRP3) c.2840+198C>T:-,0.35:-,NOT_FOUND 1 247607847 . C CT 18 idl,rn VT=INS;SST=Single;DP=42;NP=4;PC=0.002;Gene=NLRP3/NM_001079821.2/0;CC=c.2841-95dupT;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2670-95dupT;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2670-95dupT;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.2835-95dupT;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.2841-95dupT;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2499-95dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,CT,D:41:39:7:5:30,7,4:1022,227,150:0.00,18.22,8.34:0.00,14.42,7.02:0.00,3.80,1.32:0.00,0.94,0.00:0.00,1.00,0.00:0.00,0.64,0.00:60,60,60:13.1,6.1,17.5:0,0,1:0,0,0:43,43,54:103,105,97:27,16,35:-,NM_004895.4(NLRP3) c.2841-106_2841-105insT:-,NOT_FOUND:-,NOT_FOUND 1 247608124 . G . . NT END=247611706;NT GT ./. 1 247608167 rs45624634 C A 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.9028,A/0.09724;Gene=NLRP3/NM_001079821.2/0;CC=c.3011+44C>A;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2840+44C>A;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2840+44C>A;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.3005+44C>A;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.3011+44C>A;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2669+44C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:81:32:0:0:42,39:1346,1285:130.28,0.00:31.37,0.00:98.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,5.6:0,0:0,0:105,106:45,45:28,22:NM_004895.4(NLRP3) c.3011+44C>A,-:0.11,-:0.134861,- 1 247611570 rs58966539 CT C 16 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CT/0.4167,C/0.5833;PC=0.002;Gene=NLRP3/NM_001079821.2/0;CC=c.3012-115delT;VC=Intron;Gene=NLRP3/NM_001127461.2/0;CC=c.2841-115delT;VC=Intron;Gene=NLRP3/NM_001127462.2/0;CC=c.2841-115delT;VC=Intron;Gene=NLRP3/NM_001243133.1/0;CC=c.3006-115delT;VC=Intron;Gene=NLRP3/NM_004895.4/1;CC=c.3012-115delT;VC=Intron;Gene=NLRP3/NM_183395.2/0;CC=c.2670-115delT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:CT,C:9:9:0:5:4,5:118,161:0.00,15.81:0.00,15.81:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:58.5,39.6:0,0:0,0:45,18:90,132:24,10:-,NM_004895.4(NLRP3) c.3012-136delT:-,NOT_FOUND:-,NOT_FOUND 1 247611807 . G . . NT END=247614330;NT GT ./. 1 247612036 rs10754558 G C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3464,C/0.6536;Gene=NLRP3/NM_001079821.2/0;CC=c.*230G>C;VC=3UTR;Gene=NLRP3/NM_001127461.2/0;CC=c.*230G>C;VC=3UTR;Gene=NLRP3/NM_001127462.2/0;CC=c.*230G>C;VC=3UTR;Gene=NLRP3/NM_001243133.1/0;CC=c.*230G>C;VC=3UTR;Gene=NLRP3/NM_004895.4/1;CC=c.*230G>C;VC=3UTR;Gene=NLRP3/NM_183395.2/0;CC=c.*230G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G:5:0:0:0:3,2:102,69:10.17,0.00:0.00,0.00:10.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:34.0,0.0:0,0:0,0:135,78:16,73:9,24:NM_004895.4(NLRP3) c.*230G>C,-:0.64,-:NOT_FOUND,- 1 247614693 rs6695302 C T 604 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=165;DB;DBA=NA;PAF=C/0.1044,T/0.8956;Gene=OR2B11/NM_001004492.1/1;CC=c.592G>A;ProtCh=p.V198M;VC=Missense;DM=OR2B11/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:165:108:0:0:165:5257:604.16:308.22:295.94:1.00:1.00:1.00:60:37.2:0:0:79:69:38:NM_001004492.1(OR2B11) c.592G>A (p.Val198Met),NM_001004492.1(OR2B11) c.592G>A (p.Val198Met):0.91,0.91:0.896817,0.896817 1 247614896 rs11583410 A C 541 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=144;DB;DBA=NA;PAF=A/0.6304,C/0.3696,G/.;PC=1.000;Gene=OR2B11/NM_001004492.1/1;CC=c.389T>G;ProtCh=p.I130S;VC=Missense;DM=OR2B11/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:144:90:0:0:1,143:12,4751:0.00,541.02:0.00,276.67:0.00,264.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,42.4:0,0:0,0:120,76:31,74:0,36:NM_001004492.1(OR2B11) c.389T>G (p.Ile130Ser),NM_001004492.1(OR2B11) c.389T>G (p.Ile130Ser):0.37,0.37:0.361602,0.361602 1 247615285 . G . . NT END=247654429;NT GT ./. 1 247615470 rs4269805 T C 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1855,C/0.8145 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:244:28.21:0.00:28.21:1.00:0.00:1.00:60:51.9:0:0:119:31:13:NM_001004492.1(OR2B11) c.1-u186A>G,NM_001004492.1(OR2B11) c.1-u186A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 1 247617497 rs6656755 A ATG 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5869,G/0.4131;NP=3;NP=45;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:ATG:4:3:4:0:4:134:15.31:7.60:7.70:1.00:1.00:1.00:60:15.0:0:0:59:76:27:NM_001004492.1(OR2B11) c.1-u2214_1-u2213insCA,NM_001004492.1(OR2B11) c.1-u2214_1-u2213insCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 247654993 rs10925061 T C 231 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.6763,C/0.3237;Gene=OR2W5/NM_001004698.2/1;CC=c.564T>C;ProtCh=p.S188=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:133:89:0:0:1,71,61:11,2371,2012:-0.11,231.40,0.00:-0.00,131.35,0.00:-0.10,100.05,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:60.0,38.8,9.2:0,0,0:0,0,0:56,66,76:95,83,73:0,36,26:NM_001004698.2(OR2W5) c.564T>C (p.(=)),-:0.33,-:0.348839,- 1 247655275 rs12141850 T C 197 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.6765,C/0.3235;Gene=OR2W5/NM_001004698.2/1;CC=c.846T>C;ProtCh=p.H282=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:130:82:0:0:1,63,66:9,2055,2046:-0.17,196.75,0.00:-0.11,100.26,0.00:-0.05,96.48,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.0,42.1,10.4:0,0,0:0,0,0:107,90,83:44,60,64:0,33,35:NM_001004698.2(OR2W5) c.846T>C (p.(=)),-:0.33,-:0.353375,- 1 247655393 . T . . NT END=247694850;NT GT ./. 1 247655400 . GAC G 132 nt VT=DEL;SST=Single;DP=109;NP=2;Gene=OR2W5/NM_001004698.2/1;CC=c.*10_*11delCA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAC,G:109:45:0:45:64,45:2135,1431:0.00,132.48:0.00,39.47:0.00,93.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,9.6:0,0:0,0:84,81:60,70:30,20:-,NM_001004698.2(OR2W5) c.*10_*11delCA:-,NOT_FOUND:-,0.000719 1 247655516 rs12123109 C T 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.754,T/0.246;Gene=OR2W5/NM_001004698.2/1;CC=c.*124C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:3:0:0:19,14:561,441:0.00,41.03:0.00,-0.60:0.00,41.63:0.00,1.00:0.00,0.82:0.00,1.00:60,60:17.8,33.8:0,0:0,0:125,98:26,51:16,28:-,NM_001004698.2(OR2W5) c.*124C>T:-,0.26:-,NOT_FOUND 1 247685473 rs4925680 C A,T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2382,T/0.7618 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:A,T:4:3:0:0:1,3:12,76:1.08,8.62:1.08,3.15:0.00,5.48:0.00,0.85:0.00,0.99:0.00,0.95:47,60:70.0,60.3:0,0:0,0:108,108:42,41:0,4:chr1 g.247685472C>A (intergenic),chr1 g.247685472C>T (intergenic):NOT_FOUND,0.71:NOT_FOUND,NOT_FOUND 1 247694550 rs6678867 C G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3698,G/0.6302;PC=0.008;Gene=GCSAML/NM_001281834.1/0;CC=c.-264+4194C>G;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.-148+4194C>G;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.-68+4194C>G;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.-8+4194C>G;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.-57+4194C>G;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.-68+4194C>G;VC=Intron;Gene=OR2C3/NM_198074.4/1;CC=c.*301G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:4:4:0:0:2,2:70,69:0.00,6.65:0.00,6.65:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:0.0,40.5:0,0:0,0:117,22:32,127:9,4:-,NM_198074.4(OR2C3) c.*301G>C:-,0.63:-,NOT_FOUND 1 247695427 rs34220133 C G 187 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.9309,G/0.06909;Gene=GCSAML/NM_001281834.1/0;CC=c.-264+5071C>G;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.-148+5071C>G;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.-68+5071C>G;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.-8+5071C>G;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.-57+5071C>G;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.-68+5071C>G;VC=Intron;Gene=OR2C3/NM_198074.4/1;CC=c.387G>C;ProtCh=p.R129S;VC=Missense;DM=OR2C3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:117:67:0:0:54,62,1:1711,1919,10:0.00,186.53,-0.12:0.00,76.33,-0.10:0.00,110.21,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.9,45.1,28.0:0,0,0:0,0,0:78,83,126:63,65,25:38,35,0:-,NM_198074.4(OR2C3) c.387G>C (p.Arg129Ser):-,0.07:-,0.125327 1 247695612 rs6657127 G A 292 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.001597,A/0.9984,C/.;NP=3467;PC=0.244;Gene=GCSAML/NM_001281834.1/0;CC=c.-264+5256G>A;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.-148+5256G>A;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.-68+5256G>A;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.-8+5256G>A;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.-57+5256G>A;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.-68+5256G>A;VC=Intron;Gene=OR2C3/NM_198074.4/1;CC=c.202C>T;ProtCh=p.P68S;VC=Missense;DM=OR2C3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:78:34:0:0:77,1:2555,8:291.71,0.08:92.70,0.08:199.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,56.0:0,0:0,0:81,57:68,93:39,0:NM_198074.4(OR2C3) c.=,NM_198074.4(OR2C3) c.=:1,1:0.998078,0.998078 1 247695756 rs6697472 T C 196 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.02296,C/0.977;Gene=GCSAML/NM_001281834.1/0;CC=c.-264+5400T>C;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.-148+5400T>C;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.-68+5400T>C;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.-8+5400T>C;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.-57+5400T>C;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.-68+5400T>C;VC=Intron;Gene=OR2C3/NM_198074.4/1;CC=c.58A>G;ProtCh=p.T20A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:C:53:26:0:0:53:1713:196.39:70.40:125.99:1.00:1.00:1.00:60:45.8:0:0:105:43:25:NM_198074.4(OR2C3) c.58A>G (p.Thr20Ala),NM_198074.4(OR2C3) c.58A>G (p.Thr20Ala):0.98,0.98:0.973858,0.973858 1 247695814 . T . . NT END=247712346;NT GT ./. 1 247695958 rs6697675 T C 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.02316,C/0.9768;Gene=GCSAML/NM_001281834.1/0;CC=c.-264+5602T>C;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.-148+5602T>C;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.-68+5602T>C;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.-8+5602T>C;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.-57+5602T>C;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.-68+5602T>C;VC=Intron;Gene=OR2C3/NM_198074.4/1;CC=c.-29-116A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:0:0:0:12:418:47.52:0.00:47.52:1.00:0.00:1.00:60:41.1:0:0:96:55:28:NM_198074.4(OR2C3) c.-29-116A>G,NM_198074.4(OR2C3) c.-29-116A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 1 247712523 . G . . NT END=247719708;NT GT ./. 1 247719769 . G . . NT END=247726891;NT GT ./. 1 247726822 rs558817663 CTTTT C 33 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=CTTTT/0.6587,C/0.3413;DB;DBA=NA;PAF=CTTTT/0.6587,C/0.3413;NP=1926;PC=0.001;Gene=GCSAML/NM_001281834.1/0;CC=c.30-66_30-63delTTTT;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.30-66_30-63delTTTT;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.-7-66_-7-63delTTTT;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.-7-66_-7-63delTTTT;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.90-66_90-63delTTTT;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.-7-66_-7-63delTTTT;VC=Intron;Gene=GCSAML/NM_145278.4/0;CC=c.90-66_90-63delTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTT,C:18:15:0:10:8,10:240,338:0.00,33.22:0.00,29.18:0.00,4.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,6.3:0,0:0,0:35,64:102,86:28,22:-,NM_145278.3(GCSAML) c.90-69_90-66delTTTT:-,0.35:-,0.447259 1 247726942 . G . . NT END=247729232;NT GT ./. 1 247728962 rs1151694 C T 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3728,T/0.6272;Gene=GCSAML/NM_001281834.1/0;CC=c.80-271C>T;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.80-271C>T;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.44-271C>T;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.44-271C>T;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.140-271C>T;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.44-271C>T;VC=Intron;Gene=GCSAML/NM_145278.4/0;CC=c.140-271C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:5:5:0:0:1,4:35,130:0.00,13.82:0.00,13.82:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,32.5:0,0:0,0:108,21:42,129:0,4:-,NM_145278.3(GCSAML) c.140-271C>T:-,0.62:-,NOT_FOUND 1 247729206 rs538995820 CT C 12 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=100;Gene=GCSAML/NM_001281834.1/0;CC=c.80-11delT;VC=Intron;Gene=GCSAML/NM_001281835.1/0;CC=c.80-11delT;VC=Intron;Gene=GCSAML/NM_001281836.1/0;CC=c.44-11delT;VC=Intron;Gene=GCSAML/NM_001281838.1/0;CC=c.44-11delT;VC=Intron;Gene=GCSAML/NM_001281853.1/1;CC=c.140-11delT;VC=Intron;Gene=GCSAML/NM_001281837.1/0;CC=c.44-11delT;VC=Intron;Gene=GCSAML/NM_145278.4/0;CC=c.140-11delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:CT,T,I,C:43:37:4:9:33,1,4,5:1043,11,132,266:0.00,-0.08,9.57,12.33:0.00,-0.19,7.33,6.01:0.00,0.11,2.24,6.32:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.90:60,60,60,60:25.0,35.0,52.2,32.8:1,0,0,3:0,0,0,0:77,27,33,71:73,124,117,78:33,0,13,28:-,NM_145278.3(GCSAML) c.140-26delT:-,NOT_FOUND:-,NOT_FOUND 1 247729262 . G . . NT END=247737444;NT GT ./. 1 247737685 . A . . NT END=247751661;NT GT ./. 1 247737928 rs12401701 A T 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9012,T/0.09884;PC=0.001;Gene=GCSAML/NM_001281834.1/0;CC=c.*244A>T;VC=3UTR;Gene=GCSAML/NM_001281835.1/0;CC=c.*244A>T;VC=3UTR;Gene=GCSAML/NM_001281836.1/0;CC=c.*244A>T;VC=3UTR;Gene=GCSAML/NM_001281838.1/0;CC=c.*244A>T;VC=3UTR;Gene=GCSAML/NM_001281853.1/1;CC=c.*244A>T;VC=3UTR;Gene=GCSAML/NM_001281837.1/0;CC=c.*244A>T;VC=3UTR;Gene=GCSAML/NM_145278.4/0;CC=c.*244A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,T:9:0:0:0:3,6:94,182:0.00,18.57:0.00,0.00:0.00,18.57:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,44.5:0,0:0,0:140,122:10,28:4,13:-,NM_145278.3(GCSAML) c.*244A>T:-,0.12:-,NOT_FOUND 1 247752019 rs1151687 G C 159 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.4205,C/0.5795;PC=0.005;Gene=OR2G2/NM_001001915.1/1;CC=c.358G>C;ProtCh=p.V120L;VC=Missense;DM=OR2G2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:94:49:0:0:48,46:1646,1508:159.23,0.00:66.99,0.00:92.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,14.7:0,0:0,0:89,95:57,53:35,31:NM_001001915.1(OR2G2) c.358G>C (p.Val120Leu),-:0.61,-:0.55336,- 1 247752161 rs10925085 T C 149 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.6925,C/0.3075;Gene=OR2G2/NM_001001915.1/1;CC=c.500T>C;ProtCh=p.L167P;VC=Missense;DM=OR2G2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:103:70:0:0:51,52:1559,1775:149.16,0.00:75.97,0.00:73.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,10.1:0,0:0,0:86,67:59,84:37,41:NM_001001915.1(OR2G2) c.500T>C (p.Leu167Pro),-:0.35,-:0.302091,- 1 247752616 . t . . NT END=247768887;NT GT ./. 1 247752650 rs35280339 AT A 42 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=924;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,G,A:24:4:0:13:10,1,13:303,11,430:0.00,0.20,42.36:0.00,-0.02,3.22:0.00,0.22,39.14:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:17.8,102.0,6.2:0,0,0:0,0,0:125,137,85:24,13,66:16,0,19:-,chr1 g.247752651delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 247764393 rs4925690 A G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3736,G/0.6264 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:4:0:0:2,2:66,72:0.00,6.95:0.00,5.36:0.00,1.59:0.00,0.94:0.00,0.94:0.00,0.89:53,60:0.0,36.0:0,0:0,0:30,51:92,97:0,3:-,NM_001001914.1(OR2G3) c.1-u4495A>G:-,0.66:-,NOT_FOUND 1 247769592 rs1151683 C T 108 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.6901,T/0.3099;Gene=OR2G3/NM_001001914.1/1;CC=c.705C>T;ProtCh=p.H235=;VC=Silent;DM=OR2G3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:41:0:0:32,35:1070,1119:0.00,108.44:0.00,61.30:0.00,47.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.2,38.2:0,0:0,0:79,73:71,70:34,31:-,NM_001001914.1(OR2G3) c.705C>T (p.(=)):-,0.31:-,0.256805 1 247769818 . T . . NT END=247835419;NT GT ./. 1 247835352 rs1151641 C T 61 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1917,T/0.8083 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:16:0:0:17:534:61.47:55.60:5.87:1.00:1.00:1.00:60:35.6:0:0:66:85:36:chr1 g.247835351C>T (intergenic),chr1 g.247835351C>T (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 1 247835674 rs28446289 G A 86 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.6691,A/0.3309;Gene=OR13G1/NM_001005487.1/1;CC=c.670C>T;ProtCh=p.R224C;VC=Missense;DM=OR13G1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:39:0:0:28,40:929,1228:86.25,0.00:52.83,0.00:33.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,12.9:0,0:0,0:60,87:90,64:41,43:NM_001005487.1(OR13G1) c.670C>T (p.Arg224Cys),-:0.31,-:0.339074,- 1 247835908 rs28556931 T A 149 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.6697,A/0.3303;Gene=OR13G1/NM_001005487.1/1;CC=c.436A>T;ProtCh=p.M146L;VC=Missense;DM=OR13G1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:98:70:0:0:47,51:1558,1634:148.74,0.00:77.48,0.00:71.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.0,31.8:0,0:0,0:58,76:87,66:33,40:NM_001005487.1(OR13G1) c.436A>T (p.Met146Leu),-:0.31,-:0.339997,- 1 247835950 rs1151640 T C 185 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.594,C/0.406;Gene=OR13G1/NM_001005487.1/1;CC=c.394A>G;ProtCh=p.I132V;VC=Missense;DM=OR13G1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:118:82:0:0:59,59:1926,1843:185.18,0.00:105.81,0.00:79.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,50.7:0,0:0,0:70,59:78,75:36,33:NM_001005487.1(OR13G1) c.394A>G (p.Ile132Val),-:0.44,-:0.337767,- 1 247836008 rs28555391 G A 195 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.6707,A/0.3293;Gene=OR13G1/NM_001005487.1/1;CC=c.336C>T;ProtCh=p.F112=;VC=Silent;DM=OR13G1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:132:91:0:0:66,66:2033,2271:194.88,0.00:114.51,0.00:80.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.7,21.6:0,0:0,0:69,67:77,83:37,37:NM_001005487.1(OR13G1) c.336C>T (p.(=)),-:0.31,-:0.339074,- 1 247836207 rs28711149 T A 126 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.6705,A/0.3295;PC=0.030;Gene=OR13G1/NM_001005487.1/1;CC=c.137A>T;ProtCh=p.K46I;VC=Missense;DM=OR13G1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:93:44:0:0:43,50:1335,1579:126.04,0.00:31.35,0.00:94.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,9.8:0,1:0,0:90,101:58,47:37,28:NM_001005487.1(OR13G1) c.137A>T (p.Lys46Ile),-:0.31,-:0.339074,- 1 247836344 . C . . NT END=247875130;NT GT ./. 1 247836494 rs28607552 T A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6705,A/0.3295 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:21:0:0:0:10,11:307,332:29.13,0.00:0.00,0.00:29.13,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:30.7,5.9:0,0:0,0:125,135:25,15:13,7:NM_001005487.1(OR13G1) c.1-u151A>T,-:0.31,-:NOT_FOUND,- 1 247876058 . T . . NT END=247920763;NT GT ./. 1 247920508 rs375813035 CTA C 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CTA/0.1621,C/0.8379;DB;DBA=NA;PAF=CTA/0.1621,C/0.8379;NP=316;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:6:6:190:21.86:21.86:0.00:1.00:1.00:0.00:60:5.7:0:0:70:80:21:chr1 g.247920509_247920510delTA (intergenic),chr1 g.247920509_247920510delTA (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 1 247921100 rs1552812 T G 297 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.2676,A/.,G/0.7324;Gene=OR1C1/NM_012353.2/1;CC=c.609A>C;ProtCh=p.G203=;VC=Silent;DM=OR1C1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:32:0:0:83:2580:297.18:94.30:202.88:1.00:1.00:1.00:60:40.9:0:0:59:91:38:NM_012353.2(OR1C1) c.609A>C (p.(=)),NM_012353.2(OR1C1) c.609A>C (p.(=)):0.76,0.76:0.769182,0.769182 1 247921352 rs1552813 C T 363 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.156,T/0.844;PC=0.004;Gene=OR1C1/NM_012353.2/1;CC=c.357G>A;ProtCh=p.A119=;VC=Silent;DM=OR1C1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:97:61:0:0:97:3171:363.26:176.54:186.72:1.00:1.00:1.00:60:40.8:0:0:83:68:34:NM_012353.2(OR1C1) c.357G>A (p.(=)),NM_012353.2(OR1C1) c.357G>A (p.(=)):0.87,0.87:0.841388,0.841388 1 247921709 . A . . NT END=247978101;NT GT ./. 1 247921717 rs10888359 C A 165 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.1544,A/0.8456 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:A:46:20:0:0:46:1428:164.59:48.21:116.38:1.00:1.00:1.00:60:41.4:0:0:96:50:27:NM_012353.2(OR1C1) c.1-u9G>T,NM_012353.2(OR1C1) c.1-u9G>T:0.87,0.87:0.842021,0.842021 1 247921789 rs61126187 A AGT 56 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=40;PC=0.015;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AGT,D:28:2:17:1:9,1,17,1:309,11,552,19:0.00,0.20,55.97,0.83:0.00,0.00,5.09,0.00:0.00,0.20,50.88,0.83:0.00,0.00,1.00,0.00:0.00,0.00,0.87,0.00:0.00,0.00,1.00,0.00:60,60,60,60:41.3,132.0,25.4,117.0:0,0,0,0:0,0,0,0:119,102,80,65:32,26,58,86:5,0,26,0:-,NM_012353.2(OR1C1) c.1-u82_1-u81insAC:-,NOT_FOUND:-,NOT_FOUND 1 247921888 rs965975 C T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.08087,T/0.9191;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:32.8:0:0:132:10:10:NM_012353.2(OR1C1) c.1-u180G>A,NM_012353.2(OR1C1) c.1-u180G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 1 247978087 rs10888248 G A 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1659,A/0.8341 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:16:0:0:18:593:67.88:51.29:16.60:1.00:1.00:1.00:60:36.7:0:0:71:80:31:chr1 g.247978086G>A (intergenic),chr1 g.247978086G>A (intergenic):0.85,0.85:0.809399,0.809399 1 247978319 rs6695283 A G 162 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.001198,G/0.9988;NP=3465;PC=0.996;Gene=OR14A16/NM_001001966.1/1;CC=c.713T>C;ProtCh=p.I238T;VC=Missense;DM=OR14A16/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:27:0:0:43:1412:161.62:84.13:77.48:1.00:1.00:1.00:60:40.2:0:0:81:70:36:NM_001001966.1(OR14A16) c.713T>C (p.Ile238Thr),NM_001001966.1(OR14A16) c.713T>C (p.Ile238Thr):1,1:0.99877,0.99877 1 247978541 rs375198428 AAGG A 168 PASS VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=AAGG/0.2794,A/0.7206;DB;DBA=NA;PAF=AAGG/0.2794,A/0.7206;NP=3253;Gene=OR14A16/NM_001001966.1/1;CC=c.488_490delCCT;ProtCh=p.S163del;VC=InFrameDel;DM=OR14A16/7tm_4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:AAGG,A:52:39:0:48:4,48:110,1517:0.00,168.48:0.00,102.45:0.00,66.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.0,5.2:0,0:0,0:143,68:3,80:3,26:NM_001001966.1(OR14A16) c.488_490delCCT (p.Ser163del),NM_001001966.1(OR14A16) c.488_490delCCT (p.Ser163del):0.76,0.76:0.684105,0.684105 1 247978996 rs10888249 A G 177 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.1532,G/0.8468;Gene=OR14A16/NM_001001966.1/1;CC=c.36T>C;ProtCh=p.L12=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:G:46:24:0:0:46:1555:177.43:64.50:112.93:1.00:1.00:1.00:60:44.2:0:0:95:55:28:NM_001001966.1(OR14A16) c.36T>C (p.(=)),NM_001001966.1(OR14A16) c.36T>C (p.(=)):0.87,0.87:0.821363,0.821363 1 247979032 . T . . NT END=248004229;NT GT ./. 1 247990932 rs12125756 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3824,A/0.6176;PC=0.968 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:34.2:0:0:86:65:28:chr1 g.247990931G>A (intergenic),chr1 g.247990931G>A (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 1 248004296 rs6681483 A G 161 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.851,G/0.149;Gene=OR11L1/NM_001001959.1/1;CC=c.903T>C;ProtCh=p.V301=;VC=Silent;DM=OR11L1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:93:62:0:0:40,1,52:1271,12,1635:0.00,-0.02,160.86:0.00,0.07,93.22:0.00,-0.10,67.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.5,101.0,36.2:0,0,0:0,0,0:68,102,83:81,7,65:42,0,31:-,NM_001001959.1(OR11L1) c.903T>C (p.(=)):-,0.13:-,0.19268 1 248004614 rs6667389 G A 178 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.1532,A/0.8468;Gene=OR11L1/NM_001001959.1/1;CC=c.585C>T;ProtCh=p.T195=;VC=Silent;DM=OR11L1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:66:0:0:55,54:1846,1699:178.03,0.00:83.71,0.00:94.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.5,7.5:0,0:0,0:89,69:61,78:36,31:NM_001001959.1(OR11L1) c.585C>T (p.(=)),-:0.87,-:0.804782,- 1 248004687 rs10888255 C G 164 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.1296,G/0.8704;PC=0.001;Gene=OR11L1/NM_001001959.1/1;CC=c.512G>C;ProtCh=p.R171P;VC=Missense;DM=OR11L1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:133:100:0:0:1,74,58:10,2369,1758:-0.18,0.00,164.08:-0.06,0.00,94.90:-0.12,0.00,69.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:170.0,7.6,61.3:0,0,0:0,0,0:38,65,63:112,81,86:0,40,37:-,NM_001001959.1(OR11L1) c.512G>C (p.Arg171Pro):-,0.88:-,0.829925 1 248004775 rs10888256 C T 169 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.1094,T/0.8906;Gene=OR11L1/NM_001001959.1/1;CC=c.424G>A;ProtCh=p.A142T;VC=Missense;DM=OR11L1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:126:92:0:0:66,1,59:2200,11,1781:0.00,-0.13,168.59:0.00,-0.03,83.87:0.00,-0.10,84.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.1,43.0,84.8:0,0,0:0,0,0:89,130,93:57,20,55:33,0,30:-,NM_001001959.1(OR11L1) c.424G>A (p.Ala142Thr):-,0.9:-,0.848224 1 248004848 rs4607924 G C 161 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.1096,C/0.8904;Gene=OR11L1/NM_001001959.1/1;CC=c.351C>G;ProtCh=p.F117L;VC=Missense;DM=OR11L1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:112:69:0:0:50,62:1706,2116:160.99,0.00:85.69,0.00:75.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:110.5,34.2:0,0:0,0:71,80:67,67:36,32:NM_001001959.1(OR11L1) c.351C>G (p.Phe117Leu),-:0.9,-:0.848147,- 1 248004877 rs10888257 C T 162 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.129,T/0.871;Gene=OR11L1/NM_001001959.1/1;CC=c.322G>A;ProtCh=p.G108S;VC=Missense;DM=OR11L1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:114:68:0:0:61,53:1845,1711:0.00,162.21:0.00,69.73:0.00,92.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.5,109.6:0,0:0,0:85,87:66,60:31,35:-,NM_001001959.1(OR11L1) c.322G>A (p.Gly108Ser):-,0.88:-,0.830002 1 248004884 rs1339845 T C 433 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.04373,C/0.9563;Gene=OR11L1/NM_001001959.1/1;CC=c.315A>G;ProtCh=p.V105=;VC=Silent;DM=OR11L1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:116:71:0:0:115,1:3792,12:433.40,0.14:199.48,0.14:233.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.3,193.0:0,0:0,0:79,6:69,143:36,0:NM_001001959.1(OR11L1) c.315A>G (p.(=)),NM_001001959.1(OR11L1) c.315A>G (p.(=)):0.96,0.96:0.944103,0.944103 1 248005199 . T . . NT END=248020548;NT GT ./. 1 248005213 rs7522811 G C 96 nt VT=SNV;PN=T;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.1552,C/0.8448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:73:27:0:0:1,31,41:11,1030,1376:-0.08,96.40,0.00:-0.06,28.21,0.00:-0.02,68.18,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:16.0,42.5,4.6:0,0,0:0,0,0:2,90,89:149,61,62:0,34,33:NM_001001959.1(OR11L1) c.1-u15C>G,-:0.86,-:0.81611,- 1 248018209 rs56972422 C CGTGTGT 13 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=2;NP=2;NP=2;NP=92;PC=0.006;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T,CGTGTGT:7:5:5:0:2,1,4:45,28,153:0.00,2.26,12.92:0.00,-0.08,9.69:0.00,2.35,3.23:0.00,0.00,0.87:0.00,0.00,0.96:0.00,0.00,0.94:60,39,60:31.5,212.0,19.2:1,0,1:0,0,0:77,112,58:64,1,93:49,0,22:-,NM_015431.3(TRIM58) c.-48-u2292_-48-u2291insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 1 248020448 rs10749636 G A 206 nt VT=SNV;PN=C;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.3452,A/0.6548 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:131:112:0:0:66,1,64:2132,11,1956:205.59,-0.12,0.00:157.97,-0.05,0.00:47.62,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:52.8,38.0,8.4:0,0,0:0,0,0:52,50,48:94,101,102:34,0,28:NM_015431.3(TRIM58) c.-48-u53G>A,-:0.66,-:NOT_FOUND,- 1 248020556 rs11204523 G C 308 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=G/0.3199,C/0.6801,T/.;PC=0.001;Gene=TRIM58/NM_015431.3/1;CC=c.8G>C;ProtCh=p.W3S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:213:170:0:0:102,111:3236,3703:308.10,0.00:198.86,0.00:109.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.9,10.2:0,0:0,0:77,73:69,71:33,33:NM_015431.3(TRIM58) c.8G>C (p.Trp3Ser),-:0.68,-:0.678015,- 1 248020969 . G . . NT END=248023918;NT GT ./. 1 248024015 . G . . NT END=248028006;NT GT ./. 1 248028219 rs946696 G A 530 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=G/0.5843,A/0.4157,T/.;Gene=TRIM58/NM_015431.3/1;CC=c.729G>A;ProtCh=p.P243=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:143:60:0:0:143:4619:529.67:138.02:391.65:1.00:1.00:1.00:60:40.9:0:0:92:55:32:NM_015431.3(TRIM58) c.729G>A (p.(=)),NM_015431.3(TRIM58) c.729G>A (p.(=)):0.43,0.43:0.415091,0.415091 1 248028238 . G . . NT END=248031146;NT GT ./. 1 248031170 . G . . NT END=248031264;NT GT ./. 1 248031366 . G . . NT END=248039201;NT GT ./. 1 248039451 rs3811444 C T 651 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=C/0.7726,T/0.2274;Gene=TRIM58/NM_015431.3/1;CC=c.1121C>T;ProtCh=p.T374M;VC=Missense;DM=TRIM58/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:179:106:0:0:1,178:10,5671:0.06,651.12:0.06,291.44:0.00,359.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:113.0,42.0:0,0:0,0:110,54:41,91:0,34:NM_015431.3(TRIM58) c.1121C>T (p.Thr374Met),NM_015431.3(TRIM58) c.1121C>T (p.Thr374Met):0.23,0.23:0.258727,0.258727 1 248039713 rs3811445 A G 252 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.4159,G/0.5841;Gene=TRIM58/NM_015431.3/1;CC=c.1383A>G;ProtCh=p.T461=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:A,G:72:34:0:0:1,71:12,2202:0.00,251.51:0.00,86.11:0.00,165.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:121.0,37.8:0,0:0,0:4,81:147,65:0,41:NM_015431.3(TRIM58) c.1383A>G (p.(=)),NM_015431.3(TRIM58) c.1383A>G (p.(=)):0.58,0.58:0.586037,0.586037 1 248039792 . A . . NT END=248058888;NT GT ./. 1 248058755 rs1337876 A G 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.04832,G/0.9517 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:431:49.30:49.30:0.00:1.00:1.00:0.00:60:132.7:0:0:37:114:31:NM_001001957.2(OR2W3) c.1-u134A>G,NM_001001957.2(OR2W3) c.1-u134A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 248058761 rs11204543 G C 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7033,C/0.2967 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:538:61.43:61.43:0.00:1.00:1.00:0.00:60:131.6:0:0:39:111:33:NM_001001957.2(OR2W3) c.1-u128G>C,NM_001001957.2(OR2W3) c.1-u128G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 1 248058797 rs1856248 T G 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.04872,G/0.9513 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:21:0:0:21:690:78.97:74.89:4.08:1.00:1.00:1.00:60:128.0:0:0:42:109:28:NM_001001957.2(OR2W3) c.1-u92T>G,NM_001001957.2(OR2W3) c.1-u92T>G:0.95,0.95:NOT_FOUND,NOT_FOUND 1 248058845 rs4500353 A C 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.04852,C/0.9515,G/.,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:32:0:0:34:1139:130.09:102.20:27.89:1.00:1.00:1.00:60:96.4:0:0:44:106:26:NM_001001957.2(OR2W3) c.1-u44A>C,NM_001001957.2(OR2W3) c.1-u44A>C:0.95,0.95:0.955923,0.955923 1 248058879 rs6587387 A T 230 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.04972,T/0.9503 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:G,T:60:50:0:0:1,59:6,2020:0.06,229.68:0.06,164.82:0.00,64.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:104.0,70.4:0,0:0,0:122,38:28,100:0,25:NM_001001957.2(OR2W3) c.1-u10A>T,NM_001001957.2(OR2W3) c.1-u10A>T:0.95,0.95:0.953252,0.953252 1 248059456 rs12135078 G A 169 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.6364,A/0.3636,T/.;Gene=OR2W3/NM_001001957.2/1;CC=c.568G>A;ProtCh=p.V190I;VC=Missense;DM=OR2W3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:132:84:0:0:55,77:1816,2525:168.88,0.00:76.14,0.00:92.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.7,31.2:0,0:0,0:87,76:63,62:30,27:NM_001001957.2(OR2W3) c.568G>A (p.Val190Ile),-:0.38,-:0.399969,- 1 248059476 rs12139390 A C 488 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.4239,C/0.5761,T/.;PC=0.002;Gene=OR2W3/NM_001001957.2/1;CC=c.588A>C;ProtCh=p.E196D;VC=Missense;DM=OR2W3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:136:82:0:0:135,1:4241,21:487.69,0.56:211.70,0.00:275.99,0.56:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.2,31.0:0,0:0,0:99,52:47,99:29,0:NM_001001957.2(OR2W3) c.588A>C (p.Glu196Asp),NM_001001957.2(OR2W3) c.588A>C (p.Glu196Asp):0.59,0.59:0.655851,0.655851 1 248059703 rs11204545 T A 92 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.522,A/0.478;Gene=OR2W3/NM_001001957.2/1;CC=c.815T>A;ProtCh=p.M272K;VC=Missense;DM=OR2W3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:70:37:0:0:31,39:982,1285:92.08,0.00:32.48,0.00:59.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.5,10.1:0,0:0,0:80,76:53,73:43,31:NM_001001957.2(OR2W3) c.815T>A (p.Met272Lys),-:0.51,-:0.5499,- 1 248059712 rs11204546 T C 78 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.5202,C/0.4798;Gene=OR2W3/NM_001001957.2/1;CC=c.824T>C;ProtCh=p.M275T;VC=Missense;DM=OR2W3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:71:39:0:0:29,1,41:846,12,1316:77.67,-0.04,0.00:30.52,-0.12,0.00:47.15,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.4,37.0,10.1:0,0,0:0,0,0:89,116,78:59,35,67:42,0,33:NM_001001957.2(OR2W3) c.824T>C (p.Met275Thr),-:0.51,-:0.553206,- 1 248059779 rs112696640 G GA 109 PASS VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.8656,GA/0.1344;NP=891;PC=0.726;Gene=OR2W3/NM_001001957.2/1;CC=c.893dupA;ProtCh=p.A300Gfs*40;VC=FrameShiftIns;DM=OR2W3/7tm_4;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:63:35:35:0:28,35:966,1114:0.00,109.29:0.00,39.52:0.00,69.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.9,8.7:0,0:0,0:88,79:56,72:40,32:-,NM_001001957.2(OR2W3) c.893dupA (p.Ala300Glyfs*?):-,0.12:-,0.148394 1 248059834 . A . . NT END=248084309;NT GT ./. 1 248059856 rs10888268 T C 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.5228,C/0.4772 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:15:0:0:18,24:631,805:59.23,0.00:11.66,0.00:47.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,6.9:0,0:0,0:83,102:67,40:26,21:chr1 g.248059855T>C (intergenic),-:0.51,-:0.550832,- 1 248084222 rs12048237 T C 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5603,C/0.4397;PC=0.360 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:27:0:0:15,12:477,352:46.82,0.00:46.82,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.7,16.2:0,0:0,0:31,40:120,109:20,34:NM_001005522.1(OR2T8) c.1-u98T>C,-:0.4,-:NOT_FOUND,- 1 248084434 rs11204563 G A 282 lc VT=SNV;PN=T;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=G/0.5371,A/0.4629,C/.;PC=0.022;Gene=OR2T8/NM_001005522.1/1;CC=c.115G>A;ProtCh=p.G39S;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:128:97:0:0:90,1,37:2726,6,1129:282.03,-0.10,0.00:217.73,-0.06,0.00:64.29,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,60:67.9,201.0,43.9:0,0,0:0,0,0:39,36,96:111,115,50:29,0,35:NM_001005522.1(OR2T8) c.115G>A (p.Gly39Ser),-:0.47,-:NOT_FOUND,- 1 248084464 rs11204564 T C 426 lc VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=NA;Gene=OR2T8/NM_001005522.1/1;CC=c.145T>C;ProtCh=p.W49R;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:C,G,T:144:108:0:1:129,1,14:3850,10,485:426.09,0.03,0.00:256.25,-0.02,0.00:169.84,0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,53:61.5,201.0,79.7:0,1,0:0,0,0:49,65,22:102,86,111:30,0,13:NM_001005522.1(OR2T8) c.145T>C (p.Trp49Arg),-:0.85,-:NOT_FOUND,- 1 248084511 rs41315864 T C 35 lc VT=SNV;PN=T;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=3041;Gene=OR2T8/NM_001005522.1/1;CC=c.192T>C;ProtCh=p.L64=;VC=Silent;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,T:150:103:0:0:14,136:486,4284:35.09,0.00:19.08,0.00:16.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,46:74.8,63.8:0,0:0,0:62,75:67,70:8,24:NM_001005522.1(OR2T8) c.192T>C (p.(=)),-:0.29,-:NOT_FOUND,- 1 248084524 rs28575687 G A 86 lc VT=SNV;PN=C;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=NA;Gene=OR2T8/NM_001005522.1/1;CC=c.205G>A;ProtCh=p.V69M;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:147:97:0:0:33,114:1043,3638:86.12,0.00:8.37,0.00:77.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,53:81.9,59.9:0,0:0,0:79,76:70,70:32,16:NM_001005522.1(OR2T8) c.205G>A (p.Val69Met),-:0.09,-:NOT_FOUND,- 1 248084579 rs113819678 G A 20 lc VT=SNV;PN=A;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.8403,A/0.1597;Gene=OR2T8/NM_001005522.1/1;CC=c.260G>A;ProtCh=p.S87N;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,C,G:120:49:0:0:9,1,110:296,7,3571:20.06,-0.35,0.00:4.39,-0.08,0.00:15.67,-0.27,0.00:0.95,0.00,0.00:0.92,0.00,0.00:0.99,0.00,0.00:40,3,44:76.3,72.0,61.6:0,0,0:0,0,0:130,143,115:18,8,32:4,0,22:NM_001005522.1(OR2T8) c.260G>A (p.Ser87Asn),-:0.18,-:NOT_FOUND,- 1 248084609 rs140703773 C T 257 lc VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=1383;Gene=OR2T8/NM_001005522.1/1;CC=c.290C>T;ProtCh=p.A97V;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:185:C,G,T:75:18:0:0:1,2,72:6,20,2251:0.00,0.46,257.21:0.00,0.19,53.03:0.00,0.27,204.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:25,43,41:52.0,72.0,91.0:0,0,0:0,0,0:20,113,90:131,33,60:0,12,40:NM_001005522.1(OR2T8) c.290C>T (p.Ala97Val),NM_001005522.1(OR2T8) c.290C>T (p.Ala97Val):0.98,0.98:NOT_FOUND,NOT_FOUND 1 248084625 rs6692365 C G 105 lc VT=SNV;PN=T;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.4175,A/.,G/0.5825;NP=286;Gene=OR2T8/NM_001005522.1/1;CC=c.306C>G;ProtCh=p.L102=;VC=Silent;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:58:12:0:0:26,32:809,1075:0.00,105.39:0.00,11.39:0.00,94.00:0.00,1.00:0.00,1.00:0.00,1.00:40,43:53.3,130.2:0,0:0,0:91,104:59,46:15,30:-,NM_001005522.1(OR2T8) c.306C>G (p.(=)):-,0.54:-,NOT_FOUND 1 248084627 rs61857490 C T 81 lc VT=SNV;PN=C;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.4169,T/0.5831;NP=249;Gene=OR2T8/NM_001005522.1/1;CC=c.308C>T;ProtCh=p.P103L;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:11:0:0:28,27:753,846:0.00,81.01:0.00,4.43:0.00,76.58:0.00,1.00:0.00,1.00:0.00,1.00:40,43:61.6,134.4:0,0:0,0:93,106:57,45:16,26:-,NM_001005522.1(OR2T8) c.308C>T (p.Pro103Leu):-,0.54:-,NOT_FOUND 1 248084631 rs28689982 A C 86 lc VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.3413,C/0.6587;Gene=OR2T8/NM_001005522.1/1;CC=c.312A>C;ProtCh=p.T104=;VC=Silent;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:52:11:0:0:20,31,1:598,863,10:0.00,86.08,0.01:0.00,3.47,-0.07:0.00,82.61,0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,43,30:43.9,135.4,62.0:0,0,0:0,0,0:87,105,114:63,45,36:23,27,0:-,NM_001005522.1(OR2T8) c.312A>C (p.(=)):-,0.6:-,NOT_FOUND 1 248084747 rs4523549 A C 52 lc VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.05711,C/0.9429,G/.,T/.;NP=264;Gene=OR2T8/NM_001005522.1/1;CC=c.428A>C;ProtCh=p.N143T;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,C:19:4:0:0:3,16:73,483:0.00,52.33:0.00,4.74:0.00,47.59:0.00,1.00:0.00,1.00:0.00,1.00:31,40:39.3,112.4:2,0:0,0:0,63:151,87:0,23:-,NM_001005522.1(OR2T8) c.428A>C (p.Asn143Thr):-,NOT_FOUND:-,NOT_FOUND 1 248084749 rs12142488 C A,CA 57 end,lc VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.05611,A/0.9439;NP=361;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:A,C,CA:21:4:2:0:17,2,2:519,32,48:57.03,0.00,3.64:9.06,0.00,1.37:47.96,0.00,2.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,25,31:89.8,197.5,30.0:0,0,0:0,0,0:45,38,2:100,111,149:27,28,0:NM_001005522.1(OR2T8) c.430C>A (p.Leu144Met),NM_001005522.1(OR2T8) c.430_431insA (p.Leu144Hisfs*10):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248084757 rs142841709 T C 7 end,lc VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.773,C/0.227;Gene=OR2T8/NM_001005522.1/1;CC=c.438T>C;ProtCh=p.C146=;VC=Silent;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T:35:19:0:0:3,32:99,929:6.89,0.00:4.52,0.00:2.37,0.00:0.40,0.00:0.71,0.00:0.71,0.00:42,52:89.3,78.9:0,0:0,0:0,9:151,138:0,5:NM_001005522.1(OR2T8) c.438T>C (p.(=)),-:0.24,-:NOT_FOUND,- 1 248084798 rs61857491 C T 29 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=153;Gene=OR2T8/NM_001005522.1/1;CC=c.479C>T;ProtCh=p.A160V;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:105:66:0:0:91,14:2916,405:0.00,29.34:0.00,32.16:0.00,-2.82:0.00,1.00:0.00,1.00:0.00,1.00:53,31:41.8,71.8:0,0:0,0:37,18:113,132:14,14:-,NM_001005522.1(OR2T8) c.479C>T (p.Ala160Val):-,NOT_FOUND:-,NOT_FOUND 1 248084825 rs61857492 C T 109 lc VT=SNV;PN=G;NN=A;SST=Single;DP=151;DB;DBA=NA;PAF=C/0.524,T/0.476;PC=0.003;Gene=OR2T8/NM_001005522.1/1;CC=c.506C>T;ProtCh=p.A169V;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:151:113:0:0:110,41:3656,1273:0.00,108.53:0.00,78.62:0.00,29.91:0.00,1.00:0.00,1.00:0.00,1.00:53,42:34.6,46.1:0,0:0,0:59,18:89,129:20,7:-,NM_001005522.1(OR2T8) c.506C>T (p.Ala169Val):-,0.28:-,NOT_FOUND 1 248084854 rs4584426 A G 57 lc VT=SNV;PN=G;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=NA;Gene=OR2T8/NM_001005522.1/1;CC=c.535A>G;ProtCh=p.T179A;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:151:119:0:0:124,26,1:3784,747,9:0.00,57.19,-0.32:0.00,20.96,-0.18:0.00,36.23,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,41,33:24.8,78.1,172.0:0,0,0:0,0,0:58,100,97:84,48,45:18,8,0:-,NM_001005522.1(OR2T8) c.535A>G (p.Thr179Ala):-,0.48:-,NOT_FOUND 1 248084909 rs34508376 T G 42 lc VT=SNV;PN=A;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=NA;Gene=OR2T8/NM_001005522.1/1;CC=c.590T>G;ProtCh=p.M197R;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:146:114:0:0:18,128:566,4046:41.56,0.00:19.13,0.00:22.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:79.2,20.5:0,0:0,0:56,96:94,51:46,25:NM_001005522.1(OR2T8) c.590T>G (p.Met197Arg),-:0.46,-:NOT_FOUND,- 1 248084980 rs4362017 G T 75 lc VT=SNV;PN=C;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.6444,T/0.3556;NP=1425;Gene=OR2T8/NM_001005522.1/1;CC=c.661G>T;ProtCh=p.A221S;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:111:63:0:0:83,28:2605,892:0.00,75.36:0.00,56.41:0.00,18.95:0.00,1.00:0.00,1.00:0.00,1.00:40,40:30.1,63.2:0,0:0,0:75,68:76,83:35,32:-,NM_001005522.1(OR2T8) c.661G>T (p.Ala221Ser):-,0.47:-,NOT_FOUND 1 248085011 rs4595394 C G 201 lc VT=SNV;PN=G;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.646,G/0.354;PC=0.002;Gene=OR2T8/NM_001005522.1/1;CC=c.692C>G;ProtCh=p.A231G;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:107:65:0:0:42,64,1:1306,2016,10:0.00,201.10,-0.07:0.00,104.60,-0.09:0.00,96.50,0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,51,40:41.9,52.2,185.0:0,0,0:0,0,0:75,70,53:75,80,83:37,36,0:-,NM_001005522.1(OR2T8) c.692C>G (p.Ala231Gly):-,0.32:-,NOT_FOUND 1 248085108 rs4625315 C T 122 lc VT=SNV;PN=A;NN=A;SST=Single;DP=127;DB;DBA=NA;PAF=NA;Gene=OR2T8/NM_001005522.1/1;CC=c.789C>T;ProtCh=p.H263=;VC=Silent;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:127:65:0:0:83,44:2682,1365:0.00,121.90:0.00,72.83:0.00,49.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.5,45.7:0,0:0,0:66,27:83,123:37,19:-,NM_001005522.1(OR2T8) c.789C>T (p.(=)):-,0.55:-,NOT_FOUND 1 248085124 rs4590708 G A 259 lc VT=SNV;PN=C;NN=A;SST=Single;DP=123;DB;DBA=NA;PAF=G/0.6496,A/0.3504;Gene=OR2T8/NM_001005522.1/1;CC=c.805G>A;ProtCh=p.D269N;VC=Missense;DM=OR2T8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:123:62:0:1:80,43:2551,1300:258.73,0.00:81.46,0.00:177.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.2,43.4:0,0:0,0:79,33:70,116:35,13:NM_001005522.1(OR2T8) c.805G>A (p.Asp269Asn),-:0.31,-:0.231503,- 1 248085270 . T . . NT END=248112159;NT GT ./. 1 248085341 rs4925773 T A 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.374,A/0.626 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:27:1:0:0:12,1,14:377,13,436:35.63,0.26,0.00:3.42,0.00,0.00:32.20,0.26,0.00:1.00,0.00,0.00:0.63,0.00,0.00:1.00,0.00,0.00:60,60,60:33.8,26.0,7.9:0,0,0:0,0,0:78,12,90:71,138,61:41,0,37:chr1 g.248085340T>A (intergenic),-:0.65,-:NOT_FOUND,- 1 248104057 rs56119719 TGC T 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=67;PC=0.007;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+3378_-19+3379delGC;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+3378_-144+3379delGC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TGC,T:4:3:0:3:1,3:34,98:0.00,10.25:0.00,5.43:0.00,4.83:0.00,0.85:0.00,0.99:0.00,0.85:60,70:34.0,0.0:0,0:0,0:115,53:35,59:0,31:-,NM_175911.2(OR2L13) c.-144+3372_-144+3373delGC:-,NOT_FOUND:-,NOT_FOUND 1 248112627 rs4925787 T C 203 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.5881,C/0.4119;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+11941T>C;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+11941T>C;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.468T>C;ProtCh=p.C156=;VC=Silent;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:133:78:0:0:66,67:2117,2126:203.09,0.00:91.61,0.00:111.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.6,19.6:0,0:0,0:86,83:57,66:36,34:NM_001001963.1(OR2L8) c.468T>C (p.(=)),-:0.46,-:0.461633,- 1 248112738 rs60155834 C A 201 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.9627,A/0.03734;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12052C>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12052C>A;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.579C>A;ProtCh=p.V193=;VC=Silent;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:135:85:0:0:68,67:2095,2136:201.26,0.00:109.92,0.00:91.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,58:69.0,145.6:0,0:0,0:68,70:79,79:29,36:NM_001001963.1(OR2L8) c.579C>A (p.(=)),-:0.04,-:NOT_FOUND,- 1 248112745 rs4925788 G T 489 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.2772,T/0.7228;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12059G>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12059G>T;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.586G>T;ProtCh=p.G196C;VC=Missense;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:137:86:0:0:137:4244:489.40:251.44:237.97:1.00:1.00:1.00:60:109.6:0:0:71:76:33:NM_001001963.1(OR2L8) c.586G>T (p.Gly196Cys),NM_001001963.1(OR2L8) c.586G>T (p.Gly196Cys):0.77,0.77:NOT_FOUND,NOT_FOUND 1 248112762 rs4925789 T C 203 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.2702,C/0.7298;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12076T>C;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12076T>C;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.603T>C;ProtCh=p.S201=;VC=Silent;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:133:86:0:0:63,70:2132,2134:203.39,0.00:105.99,0.00:97.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:167.2,63.0:0,0:0,0:76,76:74,74:28,34:NM_001001963.1(OR2L8) c.603T>C (p.(=)),-:0.64,-:0.555538,- 1 248112763 rs4925790 G A 184 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.2568,A/0.7432,C/.;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12077G>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12077G>A;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.604G>A;ProtCh=p.A202T;VC=Missense;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:134:86:0:0:63,70,1:1942,2312,8:184.22,0.00,-0.17:99.48,0.00,-0.08:84.74,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,56:167.0,62.3,78.0:0,0,0:0,0,0:77,84,102:73,65,38:28,32,0:NM_001001963.1(OR2L8) c.604G>A (p.Ala202Thr),-:0.65,-:0.57937,- 1 248112771 rs4925791 C T 197 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=NA;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12085C>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12085C>T;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.612C>T;ProtCh=p.I204=;VC=Silent;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:137:83:0:0:70,67:2350,2064:0.00,196.97:0.00,98.39:0.00,98.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:60.2,163.1:0,0:0,0:82,77:67,74:36,33:-,NM_001001963.1(OR2L8) c.612C>T (p.(=)):-,0.75:-,0.632554 1 248112809 rs4925583 A G 201 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=A/0.244,G/0.756;PC=1.000;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12123A>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12123A>G;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.650A>G;ProtCh=p.Y217C;VC=Missense;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:138:83:0:0:72,66:2206,2112:0.00,201.17:0.00,103.45:0.00,97.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.1,143.7:0,0:0,0:65,70:83,79:37,36:-,NM_001001963.1(OR2L8) c.650A>G (p.Tyr217Cys):-,0.78:-,0.753652 1 248112836 rs4925792 A G 205 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=143;DB;DBA=NA;PAF=A/0.238,G/0.762,T/.;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12150A>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12150A>G;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.677A>G;ProtCh=p.H226R;VC=Missense;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:143:82:0:0:72,1,70:2280,10,2145:0.00,-0.15,204.94:0.00,-0.11,87.66:0.00,-0.04,117.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,43,60:27.3,162.0,113.9:0,0,0:0,0,0:68,132,64:83,19,87:33,0,35:-,NM_001001963.1(OR2L8) c.677A>G (p.His226Arg):-,0.78:-,0.765877 1 248113026 rs10888281 T A 123 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.2542,A/0.7458;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12340T>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12340T>A;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.867T>A;ProtCh=p.Y289*;VC=Nonsense;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:108:49:0:0:46,1,61:1331,10,1917:123.18,-0.15,0.00:39.53,0.02,0.00:83.65,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,50,56:70.0,232.0,53.1:0,0,0:0,0,0:93,56,99:56,95,47:27,0,35:NM_001001963.1(OR2L8) c.867T>A (p.Tyr289*),-:0.76,-:0.747654,- 1 248113040 rs10888282 A G 354 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.0619,G/0.9381;PC=0.100;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12354A>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12354A>G;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.881A>G;ProtCh=p.K294R;VC=Missense;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:96:43:0:0:96:3082:353.89:116.26:237.63:1.00:1.00:1.00:60:69.5:0:0:100:50:30:NM_001001963.1(OR2L8) c.881A>G (p.Lys294Arg),NM_001001963.1(OR2L8) c.881A>G (p.Lys294Arg):0.93,0.93:NOT_FOUND,NOT_FOUND 1 248113061 rs74155337 C A 133 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.9621,A/0.03794;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12375C>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12375C>A;VC=Intron;Gene=OR2L8/NM_001001963.1/1;CC=c.902C>A;ProtCh=p.T301K;VC=Missense;DM=OR2L8/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:81:35:0:0:44,37:1360,1205:132.65,0.00:43.63,0.00:89.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.5,68.1:0,0:0,0:100,103:49,44:25,24:NM_001001963.1(OR2L8) c.902C>A (p.Thr301Lys),-:0.04,-:0.043174,- 1 248113099 . A . . NT END=248128633;NT GT ./. 1 248113206 rs10888283 C G 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.2374,G/0.7626;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12520C>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12520C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:25:0:0:0:12,12,1:345,371,11:0.00,35.59,0.16:0.00,0.00,0.00:0.00,35.59,0.16:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:3.5,43.1,168.0:0,0,0:0,0,0:86,120,137:64,29,14:29,21,0:-,NM_175911.2(OR2L13) c.-144+12520C>G:-,0.78:-,NOT_FOUND 1 248113343 rs34655559 A ATG 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.01218,AGT/.,ATG/0.2266,ATGT/0.7612;NP=94;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+12658_-19+12659insGT;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+12658_-144+12659insGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,ATG:4:0:3:0:1,3:30,86:0.00,9.05:0.00,0.00:0.00,9.05:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,42.0:0,0:0,0:149,116:2,35:0,4:-,NM_175911.2(OR2L13) c.-144+12657_-144+12658insTG:-,NOT_FOUND:-,NOT_FOUND 1 248128722 rs41304159 T C 131 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.9764,C/0.02356,G/.;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+28036T>C;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+28036T>C;VC=Intron;Gene=OR2AK2/NM_001004491.1/1;CC=c.89T>C;ProtCh=p.V30A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:85:67:0:0:43,42:1365,1318:131.34,0.00:97.13,0.00:34.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,6.5:0,0:0,0:67,66:81,83:36,24:NM_001004491.1(OR2AK2) c.89T>C (p.Val30Ala),-:0.03,-:0.026603,- 1 248128929 rs6664332 G A 171 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.6284,A/0.3716;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+28243G>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+28243G>A;VC=Intron;Gene=OR2AK2/NM_001004491.1/1;CC=c.296G>A;ProtCh=p.S99N;VC=Missense;DM=OR2AK2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:119:72:0:0:57,1,61:1793,10,2035:171.01,-0.13,0.00:81.49,-0.02,0.00:89.51,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:33.9,93.0,6.5:0,0,0:0,0,0:86,80,86:64,71,64:40,0,31:NM_001004491.1(OR2AK2) c.296G>A (p.Ser99Asn),-:0.36,-:0.319314,- 1 248129240 rs4478844 G A 136 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.5687,A/0.4313;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+28554G>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+28554G>A;VC=Intron;Gene=OR2AK2/NM_001004491.1/1;CC=c.607G>A;ProtCh=p.V203M;VC=Missense;DM=OR2AK2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:64:0:0:46,52:1436,1718:136.03,0.00:78.37,0.00:57.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,3.3:0,0:0,0:48,79:97,72:38,36:NM_001004491.1(OR2AK2) c.607G>A (p.Val203Met),-:0.46,-:0.489466,- 1 248129486 rs74153220 C T 180 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.9633,T/0.03674;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+28800C>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+28800C>T;VC=Intron;Gene=OR2AK2/NM_001004491.1/1;CC=c.853C>T;ProtCh=p.R285W;VC=Missense;DM=OR2AK2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:83:0:0:72,60:2247,1912:0.00,180.30:0.00,77.25:0.00,103.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,38.1:0,0:0,0:77,67:69,83:40,38:-,NM_001004491.1(OR2AK2) c.853C>T (p.Arg285Trp):-,0.04:-,0.043057 1 248129642 . T . . NT END=248185249;NT GT ./. 1 248129881 rs12725426 A T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5679,T/0.4321;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+29195A>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+29195A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,T:8:0:0:0:5,3:143,99:0.00,9.03:0.00,0.00:0.00,9.03:0.00,0.67:0.00,0.00:0.00,0.67:60,60:33.2,33.0:0,0:0,0:126,111:24,40:24,33:-,NM_175911.2(OR2L13) c.-144+29195A>T:-,0.46:-,NOT_FOUND 1 248138531 rs4268384 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1871,G/0.8129;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+37845A>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+37845A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:125:14.41:6.55:7.85:1.00:1.00:1.00:60:146.2:0:0:32:119:18:NM_175911.2(OR2L13) c.-144+37845A>G,NM_175911.2(OR2L13) c.-144+37845A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 1 248138577 rs6689666 C A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1875,A/0.8125;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+37891C>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+37891C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:161:18.48:11.03:7.45:1.00:1.00:1.00:60:135.6:0:0:70:81:22:NM_175911.2(OR2L13) c.-144+37891C>A,NM_175911.2(OR2L13) c.-144+37891C>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 248138588 rs6680172 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1877,A/0.8123;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+37902G>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+37902G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:161:18.48:11.73:6.75:1.00:1.00:1.00:60:135.6:0:0:81:70:22:NM_175911.2(OR2L13) c.-144+37902G>A,NM_175911.2(OR2L13) c.-144+37902G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 1 248138642 rs6694546 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1831,G/0.8169;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+37956A>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+37956A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:7:6:0:0:6,1:194,13:21.86,0.95:16.19,0.95:5.66,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:59.5,149.0:0,0:0,0:41,113:105,37:29,0:NM_175911.2(OR2L13) c.-144+37956A>G,NM_175911.2(OR2L13) c.-144+37956A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 1 248138848 rs12042554 G C 218 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.1833,C/0.8167;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+38162G>C;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+38162G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C:57:52:0:0:57:1913:218.45:159.90:58.55:1.00:1.00:1.00:60:37.6:0:0:52:99:31:NM_175911.2(OR2L13) c.-144+38162G>C,NM_175911.2(OR2L13) c.-144+38162G>C:0.81,0.81:NOT_FOUND,NOT_FOUND 1 248169543 . ATATG A 11 nt VT=DEL;SST=Single;DP=11;PC=0.010;Gene=OR2L13/NM_001304535.1/0;CC=c.-19+68859_-19+68862delATGT;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-144+68859_-144+68862delATGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:ATATG,A:11:10:0:4:7,4:237,125:0.00,11.28:0.00,7.41:0.00,3.86:0.00,0.82:0.00,0.98:0.00,0.92:60,60:8.7,33.8:1,0:0,0:106,54:40,96:18,23:-,NM_175911.2(OR2L13) c.-144+68858_-144+68861delTATG:-,NOT_FOUND:-,NOT_FOUND 1 248186189 . A . . NT END=248201569;NT GT ./. 1 248202509 . A . . NT END=248223983;NT GT ./. 1 248224746 rs6697812 G T 568 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=158;DB;DBA=NA;PAF=G/0.9726,A/.,T/0.02736;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-37914G>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-37207G>T;VC=Intron;Gene=OR2L3/NM_001004687.1/1;CC=c.763G>T;ProtCh=p.V255F;VC=Missense;DM=OR2L3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:158:93:0:1:158:4929:568.05:257.74:310.31:1.00:1.00:1.00:60:39.9:0:0:69:73:43:NM_001004687.1(OR2L3) c.763G>T (p.Val255Phe),NM_001004687.1(OR2L3) c.763G>T (p.Val255Phe):0.03,0.03:0.062769,0.062769 1 248224923 . A . . NT END=248262677;NT GT ./. 1 248225201 rs6587417 A G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.005391,G/0.9946;NP=116;PC=0.037;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-37459A>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-36752A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:32.8:0:0:122:28:7:NM_175911.2(OR2L13) c.-143-36752A>G,NM_175911.2(OR2L13) c.-143-36752A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 1 248247308 rs61856418 A C 231 nt VT=SNV;PN=C;NN=T;SST=Single;DP=514;DB;DBA=NA;PAF=NA;NP=2784;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-15352A>C;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14645A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:514:397:0:0:425,89:13655,2908:0.00,230.50:0.00,181.07:0.00,49.43:0.00,1.00:0.00,1.00:0.00,1.00:60,44:13.8,43.8:0,0:0,0:63,28:84,116:37,17:-,NM_175911.2(OR2L13) c.-143-14645A>C:-,NOT_FOUND:-,NOT_FOUND 1 248247363 rs201775100 C T 153 nt VT=SNV;PN=G;NN=C;SST=Single;DP=687;DB;DBA=NA;PAF=NA;NP=93;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-15297C>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14590C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:687:541:0:0:7,596,2,82:80,19114,18,2213:-1.61,0.00,-0.73,152.56:-1.39,0.00,-0.42,117.90:-0.22,0.00,-0.30,34.66:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,24,59:45.9,19.0,57.0,56.6:0,1,0,0:0,0,0,0:35,69,96,28:116,79,54,121:10,33,9,20:-,NM_175911.2(OR2L13) c.-143-14590C>T:-,NOT_FOUND:-,NOT_FOUND 1 248247463 rs200533379 C T 374 nt VT=SNV;PN=A;NN=G;SST=Single;DP=766;DB;DBA=NA;PAF=NA;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-15197C>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14490C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:766:503:0:0:2,616,2,146:25,19179,25,4652:-0.68,0.00,-0.67,373.62:-0.34,0.00,-0.36,158.59:-0.34,0.00,-0.32,215.03:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:50,60,25,60:118.5,22.8,68.5,51.5:0,0,0,0:0,0,0,0:74,88,55,79:76,57,95,70:59,27,49,29:-,NM_175911.2(OR2L13) c.-143-14490C>T:-,NOT_FOUND:-,NOT_FOUND 1 248247586 rs10788754 T G 957 nt VT=SNV;PN=G;NN=G;SST=Single;DP=517;DB;DBA=NA;PAF=T/0.3419,G/0.6581;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-15074T>G;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14367T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:517:259:0:0:1,314,202:10,9579,6355:-0.15,957.13,0.00:-0.04,410.93,0.00:-0.12,546.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,57,53:160.0,102.7,40.1:0,0,0:0,0,0:73,73,43:64,78,107:0,38,28:NM_175911.2(OR2L13) c.-143-14367T>G,-:0.8,-:NOT_FOUND,- 1 248247588 rs200848234 T A 446 nt VT=SNV;PN=G;NN=G;SST=Single;DP=514;DB;DBA=NA;PAF=T/0.9191,A/0.08087;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-15072T>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14365T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:514:256:0:0:155,359:5090,11138:446.41,0.00:188.97,0.00:257.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,57:40.6,95.6:0,0:0,0:37,74:112,77:21,39:NM_175911.2(OR2L13) c.-143-14365T>A,-:NOT_FOUND,-:NOT_FOUND,- 1 248247590 rs55839802 G A 990 nt VT=SNV;PN=G;NN=G;SST=Single;DP=513;DB;DBA=NA;PAF=G/0.3658,A/0.6342;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-15070G>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14363G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:513:258:0:0:307,2,203,1:9933,19,6432,12:990.48,-0.28,0.00,-0.14:418.53,-0.07,0.00,-0.02:571.95,-0.20,0.00,-0.12:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:57,40,56,7:104.8,136.0,38.5,67.0:0,0,0,0:0,0,0,0:68,108,58,140:82,43,92,10:39,10,36,0:NM_175911.2(OR2L13) c.-143-14363G>A,-:0.79,-:NOT_FOUND,- 1 248247592 rs28460545 G C 1026 nt VT=SNV;PN=G;NN=A;SST=Single;DP=516;DB;DBA=NA;PAF=G/0.3722,C/0.6278;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-15068G>C;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14361G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:516:261:0:0:309,207:10298,6880:1026.02,0.00:448.15,0.00:577.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,56:103.6,38.6:0,0:0,0:76,45:75,105:37,28:NM_175911.2(OR2L13) c.-143-14361G>C,-:0.77,-:NOT_FOUND,- 1 248247747 rs199778801 C T 45 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=229;DB;DBA=NA;PAF=C/0.9315,T/0.06849;PC=0.001;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-14913C>T;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:229:98:0:0:210,19:6044,638:0.00,44.51:0.00,-2.82:0.00,47.33:0.00,1.00:0.00,1.00:0.00,1.00:60,40:12.8,46.2:0,0:0,0:93,128:55,23:34,7:-,NM_175911.2(OR2L13) c.-143-14206C>T:-,NOT_FOUND:-,NOT_FOUND 1 248247754 rs57985790 G A 38 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=226;DB;DBA=NA;PAF=G/0.9361,A/0.0639;Gene=OR2L13/NM_001304535.1/0;CC=c.-18-14906G>A;VC=Intron;Gene=OR2L13/NM_175911.3/1;CC=c.-143-14199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:A,G:226:99:0:0:20,206:571,6173:37.73,0.00:-3.01,0.00:40.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.5,12.0:0,0:0,0:135,85:16,63:6,39:NM_175911.2(OR2L13) c.-143-14199G>A,-:0.05,-:NOT_FOUND,- 1 248263617 . T . . NT END=248308449;NT GT ./. 1 248309389 . G . . NT END=248343287;NT GT ./. 1 248343021 rs11204597 T G 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4625,G/0.5375;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:390:45.12:45.12:0.00:1.00:1.00:0.00:60:47.4:0:0:60:88:22:NM_001004688.1(OR2M2) c.1-u267T>G,NM_001004688.1(OR2M2) c.1-u267T>G:0.54,0.54:NOT_FOUND,NOT_FOUND 1 248343543 rs9435919 C T 968 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=261;DB;DBA=NA;PAF=C/0.4215,T/0.5785;Gene=OR2M2/NM_001004688.1/1;CC=c.256C>T;ProtCh=p.L86=;VC=Silent;DM=OR2M2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:261:139:0:0:261:8437:967.69:388.95:578.74:1.00:1.00:1.00:60:41.0:0:0:89:61:37:NM_001004688.1(OR2M2) c.256C>T (p.(=)),NM_001004688.1(OR2M2) c.256C>T (p.(=)):0.55,0.55:0.639111,0.639111 1 248343945 rs4244171 C G 650 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=C/0.4253,G/0.5747,T/.;Gene=OR2M2/NM_001004688.1/1;CC=c.658C>G;ProtCh=p.R220G;VC=Missense;DM=OR2M2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:181:123:0:0:179,2:5660,24:650.09,0.35:375.46,0.00:274.63,0.35:1.00,0.00:1.00,0.00:1.00,0.00:60,52:58.6,119.0:0,0:0,0:78,44:67,105:32,28:NM_001004688.1(OR2M2) c.658C>G (p.Arg220Gly),NM_001004688.1(OR2M2) c.658C>G (p.Arg220Gly):0.51,0.51:0.61658,0.61658 1 248343990 rs4916104 T C 764 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=T/0.4203,C/0.5797;Gene=OR2M2/NM_001004688.1/1;CC=c.703T>C;ProtCh=p.C235R;VC=Missense;DM=OR2M2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:213:152:0:0:212,1:6643,10:764.08,0.05:434.86,0.05:329.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.8,27.0:0,0:0,0:66,37:80,112:43,0:NM_001004688.1(OR2M2) c.703T>C (p.Cys235Arg),NM_001004688.1(OR2M2) c.703T>C (p.Cys235Arg):0.51,0.51:0.608274,0.608274 1 248344332 . C . . NT END=248366369;NT GT ./. 1 248344442 rs4916105 C T 79 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4227,T/0.5773 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:1:0:0:21:689:78.91:1.89:77.03:1.00:1.00:1.00:60:41.2:0:0:109:42:16:chr1 g.248344441C>T (intergenic),chr1 g.248344441C>T (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 1 248366702 rs4916112 G A 952 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=267;DB;DBA=NA;PAF=G/0.517,A/0.483;Gene=OR2M3/NM_001004689.1/1;CC=c.333G>A;ProtCh=p.E111=;VC=Silent;DM=OR2M3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:267:159:0:0:264,2,1:8296,26,12:952.14,0.28,0.00:418.77,-0.00,0.00:533.36,0.29,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.6,50.5,55.0:0,0,0:0,0,0:87,47,135:61,102,16:33,43,0:NM_001004689.1(OR2M3) c.333G>A (p.(=)),NM_001004689.1(OR2M3) c.333G>A (p.(=)):0.48,0.48:0.537829,0.537829 1 248367309 . G . . NT END=248402230;NT GT ./. 1 248367415 rs4916082 C T 97 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.2017,T/0.7983 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:T:28:0:0:0:28:836:96.72:0.00:96.72:1.00:0.00:1.00:60:41.5:0:0:79:71:38:chr1 g.248367414C>T (intergenic),chr1 g.248367414C>T (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 1 248402758 rs6666148 C T 375 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.2971,T/0.7029;Gene=OR2M4/NM_017504.1/1;CC=c.528C>T;ProtCh=p.H176=;VC=Silent;DM=OR2M4/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:102:69:0:0:1,101:10,3283:0.00,374.68:0.00,209.05:0.00,165.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:85.0,42.3:0,0:0,0:108,68:24,73:0,40:NM_017504.1(OR2M4) c.528C>T (p.(=)),NM_017504.1(OR2M4) c.528C>T (p.(=)):0.68,0.68:0.663924,0.663924 1 248403167 . C . . NT END=248436153;NT GT ./. 1 248436456 rs142107755 C A 63 lc VT=SNV;PN=G;NN=G;SST=Single;DP=210;DB;DBA=NA;PAF=NA;NP=1231;Gene=OR2T33/NM_001004695.1/1;CC=c.661G>T;ProtCh=p.A221S;VC=Missense;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:210:106:0:0:26,182,2:850,5598,19:63.49,0.00,-0.60:40.76,0.00,-0.33:22.73,0.00,-0.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,50,40:61.7,9.1,58.0:0,0,0:0,0,0:87,87,40:63,63,111:51,41,19:NM_001004695.1(OR2T33) c.661G>T (p.Ala221Ser),-:NOT_FOUND,-:NOT_FOUND,- 1 248436611 rs10888338 G A 995 lc VT=SNV;PN=T;NN=C;SST=Single;DP=322;DB;DBA=NA;PAF=G/0.3478,A/0.6522;PC=0.002;Gene=OR2T33/NM_001004695.1/1;CC=c.506C>T;ProtCh=p.A169V;VC=Missense;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:322:252:0:0:291,1,30:8994,24,956:994.74,0.47,0.00:652.60,-0.04,0.00:342.14,0.51,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,25,53:68.8,135.0,84.4:0,0,0:0,0,0:50,48,26:98,89,118:30,0,16:NM_001004695.1(OR2T33) c.506C>T (p.Ala169Val),-:0.63,-:NOT_FOUND,- 1 248436616 rs71538179 A G 1169 lc VT=SNV;PN=C;NN=C;SST=Single;DP=341;DB;DBA=NA;PAF=NA;PC=0.001;Gene=OR2T33/NM_001004695.1/1;CC=c.501T>C;ProtCh=p.C167=;VC=Silent;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:341:264:0:0:6,334,1:87,10216,31:0.00,1168.54,1.08:0.00,753.29,1.09:0.00,415.25,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,55,42:106.7,68.8,65.0:0,0,0:0,0,0:40,43,123:106,105,27:21,24,0:NM_001004695.1(OR2T33) c.501T>C (p.(=)),NM_001004695.1(OR2T33) c.501T>C (p.(=)):0.7,0.7:NOT_FOUND,NOT_FOUND 1 248436638 rs200877558 A G 166 lc VT=SNV;PN=A;NN=C;SST=Single;DP=400;DB;DBA=NA;PAF=NA;NP=2833;Gene=OR2T33/NM_001004695.1/1;CC=c.479T>C;ProtCh=p.V160A;VC=Missense;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:400:310:0:0:335,2,63:10464,17,2111:0.00,-0.65,165.75:0.00,-0.43,125.60:0.00,-0.22,40.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,25,53:56.7,98.0,63.0:0,0,0:0,0,0:58,98,22:91,45,118:28,23,18:-,NM_001004695.1(OR2T33) c.479T>C (p.Val160Ala):-,NOT_FOUND:-,NOT_FOUND 1 248436805 rs28399248 T G 1845 lc VT=SNV;PN=G;NN=G;SST=Single;DP=653;DB;DBA=NA;PAF=NA;Gene=OR2T33/NM_001004695.1/1;CC=c.312A>C;ProtCh=p.T104=;VC=Silent;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:653:471:0:0:1,544,108:7,17136,3407:-0.08,1845.24,0.00:-0.06,896.52,0.00:-0.02,948.72,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:44,53,43:159.0,53.5,8.5:0,0,0:0,0,0:23,70,47:128,79,100:0,32,23:NM_001004695.1(OR2T33) c.312A>C (p.(=)),-:0.76,-:NOT_FOUND,- 1 248436809 rs61832700 G A 317 lc VT=SNV;PN=G;NN=G;SST=Single;DP=665;DB;DBA=NA;PAF=NA;NP=1222;Gene=OR2T33/NM_001004695.1/1;CC=c.308C>T;ProtCh=p.P103L;VC=Missense;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:665:471:0:0:119,1,542,3:3949,5,16922,51:316.52,-0.47,0.00,0.39:118.01,-0.25,0.00,0.15:198.51,-0.21,0.00,0.24:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:51,40,53,44:109.2,45.0,31.3,99.0:0,0,0,0:0,0,0,0:72,80,64,63:78,70,83,88:27,0,30,20:NM_001004695.1(OR2T33) c.308C>T (p.Pro103Leu),-:NOT_FOUND,-:NOT_FOUND,- 1 248436811 rs61832701 G C 317 lc VT=SNV;PN=G;NN=A;SST=Single;DP=667;DB;DBA=NA;PAF=NA;NP=1240;Gene=OR2T33/NM_001004695.1/1;CC=c.306C>G;ProtCh=p.L102=;VC=Silent;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:667:474:0:0:1,116,550:10,3955,18002:-0.23,317.23,0.00:-0.13,118.79,0.00:-0.10,198.43,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:44,51,53:159.0,105.5,30.9:0,0,0:0,0,0:29,83,55:122,67,89:0,30,29:NM_001004695.1(OR2T33) c.306C>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 1 248436912 rs201497316 T C 97 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=592;DB;DBA=NA;PAF=NA;Gene=OR2T33/NM_001004695.1/1;CC=c.205A>G;ProtCh=p.M69V;VC=Missense;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:C,T:592:319:0:0:49,543:1470,17985:97.13,0.00:-3.29,0.00:100.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,52:98.8,18.7:0,0:0,0:119,80:26,67:17,30:NM_001004695.1(OR2T33) c.205A>G (p.Met69Val),-:NOT_FOUND,-:NOT_FOUND,- 1 248436972 rs112084843 A G 266 lc VT=SNV;PN=C;NN=G;SST=Single;DP=412;DB;DBA=NA;PAF=NA;Gene=OR2T33/NM_001004695.1/1;CC=c.145T>C;ProtCh=p.W49R;VC=Missense;DM=OR2T33/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:412:178:0:0:310,1,100,1:10321,12,3171,11:0.00,-0.23,265.96,-0.24:0.00,-0.05,35.65,-0.09:0.00,-0.18,230.31,-0.15:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,40,48,42:7.9,102.0,43.7,30.0:1,0,0,0:0,0,0,0:85,39,110,113:65,110,40,37:37,0,26,0:-,NM_001004695.1(OR2T33) c.145T>C (p.Trp49Arg):-,0.35:-,NOT_FOUND 1 248437117 . A . . NT END=248457917;NT GT ./. 1 248437247 rs67335738 GCCCTAA G 158 nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=GCCCTAA/0.1943,G/0.8057;DB;DBA=NA;PAF=GCCCTAA/0.1943,G/0.8057;NP=1356;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:GCCCTAA,G:53:5:0:47:6,47:199,1437:0.00,157.96:0.00,2.80:0.00,155.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,7.2:0,0:0,0:141,101:2,50:2,29:-,NM_001004695.1(OR2T33) c.1-u137_1-u132delTTAGGG:-,0.77:-,NOT_FOUND 1 248457979 rs6667171 C A 593 lc VT=SNV;PN=C;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=C/0.2053,A/0.7947,G/.,T/.;Gene=OR2T12/NM_001004692.1/1;CC=c.902G>T;ProtCh=p.R301L;VC=Missense;DM=OR2T12/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:160:128:0:0:157,2,1:5216,12,9:593.20,0.00,0.04:385.08,0.00,0.05:208.11,0.00,-0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,57,53:39.5,139.0,193.0:0,0,0:0,0,0:76,70,34:74,81,117:37,58,0:NM_001004692.1(OR2T12) c.902G>T (p.Arg301Leu),NM_001004692.1(OR2T12) c.902G>T (p.Arg301Leu):0.77,0.77:0.754729,0.754729 1 248458419 rs142654576 G C 194 lc VT=SNV;PN=G;NN=C;SST=Single;DP=289;DB;DBA=NA;PAF=NA;Gene=OR2T12/NM_001004692.1/1;CC=c.462C>G;ProtCh=p.G154=;VC=Silent;DM=OR2T12/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:289:158:0:0:76,212,1:2299,6755,11:194.04,0.00,-0.23:25.49,0.00,-0.09:168.55,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,51,27:45.2,8.6,11.0:0,0,0:0,0,0:106,69,134:44,79,16:35,37,0:NM_001004692.1(OR2T12) c.462C>G (p.(=)),-:0.04,-:NOT_FOUND,- 1 248458571 rs12137982 T A 691 lc VT=SNV;PN=G;NN=G;SST=Single;DP=197;DB;DBA=NA;PAF=T/0.6114,A/0.3886;Gene=OR2T12/NM_001004692.1/1;CC=c.310A>T;ProtCh=p.T104S;VC=Missense;DM=OR2T12/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:197:96:0:0:190,7:6138,220:691.14,0.00:335.10,0.00:356.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:54.5,56.9:0,0:0,0:85,18:66,133:32,10:NM_001004692.1(OR2T12) c.310A>T (p.Thr104Ser),NM_001004692.1(OR2T12) c.310A>T (p.Thr104Ser):0.41,0.41:NOT_FOUND,NOT_FOUND 1 248458676 rs6678138 T C 555 lc VT=SNV;PN=A;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=NA;Gene=OR2T12/NM_001004692.1/1;CC=c.205A>G;ProtCh=p.M69V;VC=Missense;DM=OR2T12/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:160:110:0:0:154,6:4928,199:554.89,0.00:340.60,0.00:214.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,42:106.7,47.5:0,0:0,0:71,116:80,34:34,12:NM_001004692.1(OR2T12) c.205A>G (p.Met69Val),NM_001004692.1(OR2T12) c.205A>G (p.Met69Val):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248458689 rs6674940 A G 611 lc VT=SNV;PN=A;NN=A;SST=Single;DP=168;DB;DBA=NA;PAF=NA;Gene=OR2T12/NM_001004692.1/1;CC=c.192T>C;ProtCh=p.L64=;VC=Silent;DM=OR2T12/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:168:115:0:0:6,1,161:185,9,5453:0.00,0.03,610.74:0.00,-0.00,345.67:0.00,0.03,265.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,40,60:47.5,174.0,103.9:0,0,0:0,0,0:126,79,63:24,72,88:7,0,31:NM_001004692.1(OR2T12) c.192T>C (p.(=)),NM_001004692.1(OR2T12) c.192T>C (p.(=)):0.71,0.71:NOT_FOUND,NOT_FOUND 1 248458717 rs12745228 C G 710 lc VT=SNV;PN=C;NN=T;SST=Single;DP=192;DB;DBA=NA;PAF=NA;Gene=OR2T12/NM_001004692.1/1;CC=c.164G>C;ProtCh=p.R55T;VC=Missense;DM=OR2T12/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:192:108:0:0:192:6184:709.81:299.98:409.83:1.00:1.00:1.00:60:86.1:0:0:56:93:32:NM_001004692.1(OR2T12) c.164G>C (p.Arg55Thr),NM_001004692.1(OR2T12) c.164G>C (p.Arg55Thr):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248458881 . A . . NT END=248486931;NT GT ./. 1 248458974 rs11204626 T A 181 nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.1741,A/0.8259 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A:49:13:0:0:49:1576:180.88:30.92:149.96:1.00:1.00:1.00:60:37.0:0:0:108:43:26:NM_001004692.1(OR2T12) c.1-u94A>T,NM_001004692.1(OR2T12) c.1-u94A>T:0.79,0.79:NOT_FOUND,NOT_FOUND 1 248486895 rs4244184 G T 163 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.1747,T/0.8253 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:41:0:0:43:1425:162.94:139.32:23.61:1.00:1.00:1.00:60:71.2:0:0:48:101:30:chr1 g.248486894G>T (intergenic),chr1 g.248486894G>T (intergenic):0.79,0.79:0.778649,0.778649 1 248486913 rs4244185 A G 183 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.1987,G/0.8013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:51:48:0:0:51:1589:183.14:149.78:33.35:1.00:1.00:1.00:60:65.7:0:0:36:115:24:chr1 g.248486912A>G (intergenic),chr1 g.248486912A>G (intergenic):0.77,0.77:0.75642,0.75642 1 248487300 rs4916129 C T 697 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=195;DB;DBA=NA;PAF=C/0.5935,T/0.4065;Gene=OR2M7/NM_001004691.1/1;CC=c.571G>A;ProtCh=p.D191N;VC=Missense;DM=OR2M7/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:195:136:0:0:195:6041:696.54:406.57:289.97:1.00:1.00:1.00:60:63.7:0:0:67:81:38:NM_001004691.1(OR2M7) c.571G>A (p.Asp191Asn),NM_001004691.1(OR2M7) c.571G>A (p.Asp191Asn):0.4,0.4:0.438779,0.438779 1 248487338 rs4916130 C A 786 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=216;DB;DBA=NA;PAF=C/0.1725,A/0.8275;PC=0.790;Gene=OR2M7/NM_001004691.1/1;CC=c.533G>T;ProtCh=p.C178F;VC=Missense;DM=OR2M7/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:216:151:0:0:216:6838:786.39:457.48:328.91:1.00:1.00:1.00:60:63.6:0:0:71:76:35:NM_001004691.1(OR2M7) c.533G>T (p.Cys178Phe),NM_001004691.1(OR2M7) c.533G>T (p.Cys178Phe):0.76,0.76:0.776573,0.776573 1 248487638 rs7555310 A G 958 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=248;DB;DBA=NA;PAF=A/0.1995,G/0.8005;Gene=OR2M7/NM_001004691.1/1;CC=c.233T>C;ProtCh=p.V78A;VC=Missense;DM=OR2M7/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:248:149:0:0:248:8404:958.44:432.34:526.10:1.00:1.00:1.00:60:44.3:0:0:79:69:33:NM_001004691.1(OR2M7) c.233T>C (p.Val78Ala),NM_001004691.1(OR2M7) c.233T>C (p.Val78Ala):0.77,0.77:0.756574,0.756574 1 248487768 rs7555424 A G 645 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=A/0.1991,G/0.8009;PC=0.720;Gene=OR2M7/NM_001004691.1/1;CC=c.103T>C;ProtCh=p.F35L;VC=Missense;DM=OR2M7/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:177:91:0:0:1,176:25,5642:0.00,645.22:0.00,255.84:0.00,389.38:0.00,1.00:0.00,1.00:0.00,1.00:21,60:68.0,47.4:0,0:0,0:45,81:97,69:0,37:NM_001004691.1(OR2M7) c.103T>C (p.Phe35Leu),NM_001004691.1(OR2M7) c.103T>C (p.Phe35Leu):0.77,0.77:0.756497,0.756497 1 248487871 . G . . NT END=248512076;NT GT ./. 1 248488128 rs142941222 TTACA T 28 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TTACA/0.1993,T/0.8007;NP=190;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:8:8:243:28.11:0.00:28.11:1.00:0.00:1.00:60:30.0:0:0:98:53:27:NM_001004691.1(OR2M7) c.1-u262_1-u259delTGTA,NM_001004691.1(OR2M7) c.1-u262_1-u259delTGTA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248488157 rs10157089 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1989,G/0.8011;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:219:25.23:0.00:25.23:1.00:0.00:1.00:60:34.3:0:0:112:39:35:NM_001004691.1(OR2M7) c.1-u287T>C,NM_001004691.1(OR2M7) c.1-u287T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 1 248511928 rs28419186 G T 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5355,T/0.4645 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:259:29.71:29.71:0.00:1.00:1.00:0.00:60:36.8:0:0:78:72:15:NM_001001918.1(OR14C36) c.1-u149G>T,NM_001001918.1(OR14C36) c.1-u149G>T:0.47,0.47:NOT_FOUND,NOT_FOUND 1 248512064 rs28372410 T G 183 nt VT=SNV;PN=T;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.5353,G/0.4647 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C,G:50:44:0:0:1,49:12,1600:0.27,182.79:0.27,151.29:0.00,31.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:110.0,73.8:0,0:0,0:83,49:68,102:0,27:NM_001001918.1(OR14C36) c.1-u13T>G,NM_001001918.1(OR14C36) c.1-u13T>G:0.47,0.47:0.517607,0.517607 1 248512094 rs28728105 C T 225 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.5357,T/0.4643;Gene=OR14C36/NM_001001918.1/1;CC=c.18C>T;ProtCh=p.T6=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:T:59:51:0:0:59:1969:224.95:181.71:43.24:1.00:1.00:1.00:60:71.1:0:0:66:85:29:NM_001001918.1(OR14C36) c.18C>T (p.(=)),NM_001001918.1(OR14C36) c.18C>T (p.(=)):0.47,0.47:0.517838,0.517838 1 248512637 rs2039824 C T 427 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.5395,T/0.4605;Gene=OR14C36/NM_001001918.1/1;CC=c.561C>T;ProtCh=p.C187=;VC=Silent;DM=OR14C36/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:119:65:0:0:1,118:10,3715:0.08,427.24:0.08,195.17:0.00,232.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:79.0,49.3:0,0:0,0:104,75:47,74:0,31:NM_001001918.1(OR14C36) c.561C>T (p.(=)),NM_001001918.1(OR14C36) c.561C>T (p.(=)):0.46,0.46:0.511918,0.511918 1 248512749 rs28377739 G A 430 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.5395,A/0.4605;Gene=OR14C36/NM_001001918.1/1;CC=c.673G>A;ProtCh=p.G225R;VC=Missense;DM=OR14C36/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:113:70:0:0:113:3758:429.59:208.70:220.90:1.00:1.00:1.00:60:75.0:0:0:65:81:43:NM_001001918.1(OR14C36) c.673G>A (p.Gly225Arg),NM_001001918.1(OR14C36) c.673G>A (p.Gly225Arg):0.46,0.46:0.511918,0.511918 1 248512767 rs28545014 G T 395 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.5391,T/0.4609;Gene=OR14C36/NM_001001918.1/1;CC=c.691G>T;ProtCh=p.D231Y;VC=Missense;DM=OR14C36/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:109:71:0:0:109:3436:395.30:204.59:190.70:1.00:1.00:1.00:60:71.4:0:0:71:79:43:NM_001001918.1(OR14C36) c.691G>T (p.Asp231Tyr),NM_001001918.1(OR14C36) c.691G>T (p.Asp231Tyr):0.46,0.46:0.512225,0.512225 1 248513016 . G . . NT END=248524882;NT GT ./. 1 248513023 rs28607995 G A 116 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.5391,A/0.4609 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:11:0:0:31:1013:116.08:27.09:88.99:1.00:1.00:1.00:60:46.6:0:0:98:46:32:chr1 g.248513022G>A (intergenic),chr1 g.248513022G>A (intergenic):0.46,0.46:0.554893,0.554893 1 248513088 rs28481429 G C 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5393,C/0.4607 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:2:0:0:23:681:78.93:5.16:73.76:1.00:1.00:1.00:60:59.5:0:0:85:44:35:chr1 g.248513087G>C (intergenic),chr1 g.248513087G>C (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 1 248513191 rs28657383 A T 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5393,T/0.4607 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:218:25.14:0.00:25.14:1.00:0.00:1.00:60:55.6:0:0:113:38:21:chr1 g.248513190A>T (intergenic),chr1 g.248513190A>T (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 1 248524648 rs1544176 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.595,A/0.405 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:64.6:0:0:59:92:18:NM_001004696.1(OR2T4) c.1-u235G>A,NM_001004696.1(OR2T4) c.1-u235G>A:0.4,0.4:NOT_FOUND,NOT_FOUND 1 248524683 rs1544177 C G 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3013,G/0.6987 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:343:39.50:39.50:0.00:1.00:1.00:0.00:60:51.5:0:0:24:127:24:NM_001004696.1(OR2T4) c.1-u200C>G,NM_001004696.1(OR2T4) c.1-u200C>G:0.68,0.68:NOT_FOUND,NOT_FOUND 1 248525638 rs34079073 CA C 487 PASS VT=DEL;SST=Single;DP=135;DB;DBA=NA;PAF=CA/0.5986,C/0.4014;NP=2558;PC=1.000;Gene=OR2T4/NM_001004696.1/1;CC=c.757delA;ProtCh=p.I253Sfs*8;VC=FrameShiftDel;DM=OR2T4/7tm_4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:135:107:0:134:1,134:9,4236:0.06,487.04:0.00,322.80:0.06,164.24:0.00,1.00:0.00,1.00:0.00,1.00:45,60:170.0,5.8:1,0:0,0:75,65:74,81:0,31:NM_001004696.1(OR2T4) c.757delA (p.Ile253Serfs*8),NM_001004696.1(OR2T4) c.757delA (p.Ile253Serfs*8):0.4,0.4:0.479872,0.479872 1 248525930 . A . . NT END=248550909;NT GT ./. 1 248530391 rs6696565 G A 15 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6246,A/0.3754;PC=0.199 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:12.97:1.94:1.00:1.00:1.00:60:44.2:0:0:76:74:27:chr1 g.248530390G>A (intergenic),chr1 g.248530390G>A (intergenic):0.37,0.37:NOT_FOUND,NOT_FOUND 1 248530416 rs201557420 AGTGT A 6 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.093;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:AGTGT,A:4:6:0:4:2,2:58,131:0.00,6.35:0.00,4.65:0.00,1.70:0.00,0.42:0.00,0.42:0.00,0.56:60,60:33.5,78.5:0,2:0,0:128,22:22,107:12,4:-,chr1 g.248530417_248530420delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248530598 rs28627313 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6789,C/0.3211;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:138:15.71:0.00:15.71:1.00:0.00:1.00:60:45.2:0:0:104:46:16:chr1 g.248530597T>C (intergenic),chr1 g.248530597T>C (intergenic):0.33,0.33:NOT_FOUND,NOT_FOUND 1 248550976 rs6587467 T G 244 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.2272,G/0.7728;Gene=OR2T6/NM_001005471.1/1;CC=c.67T>G;ProtCh=p.C23G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:185:G,T:69:51:0:0:68,1:2139,10:244.43,0.00:149.16,0.00:95.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.6,81.0:0,0:0,0:71,132:78,19:38,0:NM_001005471.1(OR2T6) c.67T>G (p.Cys23Gly),NM_001005471.1(OR2T6) c.67T>G (p.Cys23Gly):0.73,0.73:0.751115,0.751115 1 248551837 . G . . NT END=248569295;NT GT ./. 1 248569050 rs11485458 A G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2272,G/0.7728 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:224:26.20:26.20:0.00:1.00:1.00:0.00:60:44.2:0:0:53:97:46:NM_030904.1(OR2T1) c.1-u246A>G,NM_030904.1(OR2T1) c.1-u246A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 1 248569282 rs28667896 A G 174 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.6897,G/0.3103 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:G,T:47:36:0:0:46,1:1523,10:173.76,0.19:108.69,0.19:65.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.4,68.0:0,0:0,0:64,135:86,16:24,0:NM_030904.1(OR2T1) c.1-u14A>G,NM_030904.1(OR2T1) c.1-u14A>G:0.32,0.32:0.404574,0.404574 1 248569369 rs28599722 A G 203 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.6737,G/0.3263;Gene=OR2T1/NM_030904.1/1;CC=c.74A>G;ProtCh=p.H25R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:A,G,T:62:47:0:0:1,59,2:10,1777,25:0.00,202.90,0.82:0.00,113.35,0.84:0.00,89.55,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:26.0,50.0,54.0:0,0,0:0,0,0:22,70,121:107,80,30:0,30,29:NM_030904.1(OR2T1) c.74A>G (p.His25Arg),NM_030904.1(OR2T1) c.74A>G (p.His25Arg):0.33,0.33:0.418268,0.418268 1 248570406 . C . . NT END=248616098;NT GT ./. 1 248570440 rs6695780 G A 255 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.146,A/0.854 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:68:32:0:0:68:2232:255.49:67.82:187.67:1.00:1.00:1.00:60:43.3:0:0:108:34:27:chr1 g.248570439G>A (intergenic),chr1 g.248570439G>A (intergenic):0.83,0.83:0.833077,0.833077 1 248570552 rs75238999 T G 90 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=244 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:0:0:0:24:785:89.92:0.00:89.92:1.00:0.00:1.00:60:53.8:18:0:96:55:30:chr1 g.248570551T>G (intergenic),chr1 g.248570551T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248570553 rs370245627 A AGTTAT 59 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,AGTTAT:24:0:18:0:6,18:202,566:0.00,59.32:0.00,0.00:0.00,59.32:0.00,1.00:0.00,0.00:0.00,1.00:60,60:69.3,48.7:0,0:0,0:140,75:7,74:2,22:-,chr1 g.248570553_248570554insGTTAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248570664 rs28376879 T A 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6889,A/0.3111;PC=0.070 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:192:22.06:0.00:22.06:1.00:0.00:1.00:60:59.5:0:0:124:20:7:chr1 g.248570663T>A (intergenic),chr1 g.248570663T>A (intergenic):0.33,0.33:NOT_FOUND,NOT_FOUND 1 248604274 rs143324771 T TA 7 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5545,TA/0.4455;NP=298;PC=0.001;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:T,TA:7:7:3:0:4,3:123,78:0.00,7.15:0.00,7.15:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,45:0.0,7.3:0,0:0,0:6,22:145,125:5,6:-,chr1 g.248604274_248604275insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248604452 rs78822516 A G 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.6214,G/0.3786;NP=941 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:55:53:0:0:21,33,1:639,1105,10:0.00,110.59,0.00:0.00,94.64,0.03:0.00,15.95,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.1,51.1,10.0:0,0,0:0,0,0:47,90,145:103,61,5:30,21,0:-,chr1 g.248604451A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248604465 rs1770074 C T 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1282 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:50:0:0:38,18:1234,599:0.00,53.22:0.00,40.97:0.00,12.25:0.00,1.00:0.00,1.00:0.00,1.00:60,54:20.9,67.2:0,0:0,0:72,95:76,55:31,19:-,chr1 g.248604464C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248604559 rs397951667 T TTC 124 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.4095,TC/.,TTC/0.5905;DB;DBA=NA;PAF=NA;NP=7;PC=0.283;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T,TTC:39:7:37:0:2,37:38,1095:0.00,123.58:0.00,15.75:0.00,107.82:0.00,1.00:0.00,1.00:0.00,1.00:50,42:59.5,12.6:1,0:0,0:112,84:36,66:36,29:chr1 g.248604559_248604560insTC (intergenic),chr1 g.248604559_248604560insTC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248604614 rs61834486 A T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=3025;PC=0.473 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:74:34:0:0:60,14:1854,455:0.00,36.61:0.00,19.28:0.00,17.32:0.00,1.00:0.00,1.00:0.00,1.00:43,42:13.4,39.2:0,0:0,0:46,40:103,111:14,22:-,chr1 g.248604613A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248604765 rs144165631 T A 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=3364 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:86:51:0:0:27,59:909,1959:80.54,0.00:35.45,0.00:45.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,43:55.9,11.5:0,0:0,0:53,72:98,79:17,25:chr1 g.248604764T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 1 248604839 rs61834488 G A 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.9012,A/0.09884,C/.;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:52:0:0:22,60:708,1982:60.60,0.00:42.10,0.00:18.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,43:40.4,25.5:0,0:0,0:58,127:92,22:27,15:chr1 g.248604838G>A (intergenic),-:0.13,-:NOT_FOUND,- 1 248604881 rs1782240 A T 79 nt VT=SNV;PN=G;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:75:44:0:0:47,28:1433,872:0.00,79.06:0.00,19.23:0.00,59.83:0.00,1.00:0.00,1.00:0.00,1.00:44,27:20.1,45.6:0,0:0,0:38,123:111,24:20,18:-,chr1 g.248604880A>T (intergenic):-,0.11:-,NOT_FOUND 1 248605436 rs71642447 C G 141 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.6669,A/.,G/0.3331;NP=2106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G:38:7:0:0:38:1227:140.74:18.30:122.45:1.00:1.00:1.00:55:63.3:0:0:91:59:31:chr1 g.248605435C>G (intergenic),chr1 g.248605435C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248605442 rs71642448 G T 129 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.644,C/.,T/0.356;NP=1;NP=2387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:T:35:7:0:0:35:1123:128.95:16.29:112.66:1.00:1.00:1.00:50:65.5:0:0:84:67:36:chr1 g.248605441G>T (intergenic),chr1 g.248605441G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248617074 . C . . NT END=248636651;NT GT ./. 1 248617276 rs192833957 A G 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:A,G:31:0:0:0:28,3:886,104:0.00,7.55:0.00,0.00:0.00,7.55:0.00,0.42:0.00,0.00:0.00,0.42:51,51:3.3,90.3:0,0:0,0:92,103:58,48:33,18:-,chr1 g.248617275A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248636641 rs201256586 C CTG 28 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9972,CTG/0.002796;PC=0.010;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,CTG:10:4:9:0:1,9:13,245:0.82,28.09:0.82,6.71:0.00,21.39:0.00,1.00:0.00,1.00:0.00,1.00:21,40:20.0,0.0:0,0:0,0:0,86:150,65:0,36:NM_001005495.1(OR2T3) c.1-u11_1-u10insTG,NM_001005495.1(OR2T3) c.1-u11_1-u10insTG:0.06,0.06:0.008259,0.008259 1 248637367 rs1770108 A G 70 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=211;DB;DBA=NA;PAF=NA;Gene=OR2T3/NM_001005495.1/1;CC=c.716A>G;ProtCh=p.H239R;VC=Missense;DM=OR2T3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:211:161:0:0:177,34:5737,940:0.00,69.94:0.00,72.14:0.00,-2.20:0.00,1.00:0.00,1.00:0.00,1.00:60,39:3.1,33.6:0,0:0,0:73,14:75,136:34,11:-,NM_001005495.1(OR2T3) c.716A>G (p.His239Arg):-,NOT_FOUND:-,NOT_FOUND 1 248637609 . T . . NT END=248651889;NT GT ./. 1 248651927 rs1770043 A G 418 lc VT=SNV;PN=A;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=A/0.08347,G/0.9165,T/.;Gene=OR2T5/NM_001004697.1/1;CC=c.38A>G;ProtCh=p.K13R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:116:84:0:0:1,1,113,1:10,5,3669,13:0.00,0.02,418.14,0.17:0.00,-0.00,264.69,-0.00:0.00,0.02,153.45,0.18:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:51,42,43,27:95.0,20.0,38.6,13.0:0,0,0,0:0,0,0,0:103,86,66,4:47,65,84,147:0,0,43,0:NM_001004697.1(OR2T5) c.38A>G (p.Lys13Arg),NM_001004697.1(OR2T5) c.38A>G (p.Lys13Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248652838 . G . . NT END=248684947;NT GT ./. 1 248685253 rs9727474 T C 640 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=176;DB;DBA=NA;PAF=T/0.04812,C/0.9519;Gene=OR2G6/NM_001013355.1/1;CC=c.306T>C;ProtCh=p.Y102=;VC=Silent;DM=OR2G6/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:176:128:0:0:176:5565:640.05:373.35:266.71:1.00:1.00:1.00:60:42.2:0:0:71:74:32:NM_001013355.1(OR2G6) c.306T>C (p.(=)),NM_001013355.1(OR2G6) c.306T>C (p.(=)):0.96,0.96:0.9491,0.9491 1 248685899 . G . . NT END=248721844;NT GT ./. 1 248722722 rs199528787 T C 73 lc VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=OR2T29/NM_001004694.2/1;CC=c.71A>G;ProtCh=p.Q24R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:19:0:0:20:637:73.22:62.04:11.18:1.00:1.00:1.00:42:40.4:0:0:83:67:40:NM_001004694.2(OR2T29) c.71A>G (p.Gln24Arg),NM_001004694.2(OR2T29) c.71A>G (p.Gln24Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248722793 . G . . NT END=248737101;NT GT ./. 1 248737095 rs200055265 T C 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:284:32.69:32.69:0.00:1.00:1.00:0.00:40:60.3:0:0:59:92:31:chr1 g.248737094T>C (intergenic),chr1 g.248737094T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248737259 rs1770107 C G 205 lc VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.743;Gene=OR2T34/NM_001001821.1/1;CC=c.800G>C;ProtCh=p.R267P;VC=Missense;DM=OR2T34/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:A,G:63:63:0:0:1,62:13,1760:0.28,204.51:0.28,200.69:0.00,3.82:0.00,1.00:0.00,1.00:0.00,1.00:40,40:13.0,38.3:0,0:0,0:134,50:16,96:0,31:NM_001001821.1(OR2T34) c.800G>C (p.Arg267Pro),NM_001001821.1(OR2T34) c.800G>C (p.Arg267Pro):0.98,0.98:NOT_FOUND,NOT_FOUND 1 248738059 . G . . NT END=248756130;NT GT ./. 1 248738133 rs373986839 A G 113 nt VT=SNV;PN=T;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=1159 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:8:0:0:53,38:1505,1218:0.00,113.13:0.00,4.58:0.00,108.55:0.00,1.00:0.00,0.98:0.00,1.00:60,50:12.8,40.9:0,0:0,0:112,128:39,22:26,13:-,NM_001001821.1(OR2T34) c.1-u75T>C:-,NOT_FOUND:-,NOT_FOUND 1 248738183 rs1782199 G T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=87 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,G,T:38:0:0:0:1,30,7:10,942,193:-0.12,0.00,14.87:0.00,0.00,0.00:-0.12,0.00,14.87:0.00,0.00,0.94:0.00,0.00,0.00:0.00,0.00,0.94:54,60,40:60.0,11.6,64.9:0,0,0:0,0,0:120,104,139:14,46,12:0,31,4:-,NM_001001821.1(OR2T34) c.1-u125C>A:-,NOT_FOUND:-,NOT_FOUND 1 248757070 . G . . NT END=248789478;NT GT ./. 1 248789454 rs1892441 G C 117 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.1234,C/0.8766,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:30:0:0:32:1017:116.88:100.08:16.80:1.00:1.00:1.00:60:69.6:0:0:29:121:18:chr1 g.248789453G>C (intergenic),chr1 g.248789453G>C (intergenic):0.89,0.89:0.869032,0.869032 1 248789504 rs1892442 T C 182 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.04393,C/0.9561;PC=0.001;Gene=OR2T11/NM_001001964.1/1;CC=c.926A>G;ProtCh=p.Q309R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C,T:53:51:0:0:52,1:1592,33:181.77,0.00:145.22,0.00:36.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.0,0.0:0,0:0,0:55,18:92,133:27,0:NM_001001964.1(OR2T11) c.926A>G (p.Gln309Arg),NM_001001964.1(OR2T11) c.926A>G (p.Gln309Arg):0.96,0.96:0.946971,0.946971 1 248790075 rs1892443 A G 425 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.08706,G/0.9129;PC=0.843;Gene=OR2T11/NM_001001964.1/1;CC=c.355T>C;ProtCh=p.C119R;VC=Missense;DM=OR2T11/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:119:77:0:0:119:3684:424.78:198.06:226.72:1.00:1.00:1.00:60:39.4:0:0:77:73:39:NM_001001964.1(OR2T11) c.355T>C (p.Cys119Arg),NM_001001964.1(OR2T11) c.355T>C (p.Cys119Arg):0.92,0.92:0.902641,0.902641 1 248790430 . T . . NT END=248801587;NT GT ./. 1 248801528 . G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:120:14.37:14.37:0.00:1.00:1.00:0.00:56:262.0:0:0:21:115:10:chr1 g.248801527G>A (intergenic),chr1 g.248801527G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801538 . G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:132:15.55:15.55:0.00:1.00:1.00:0.00:56:262.0:0:0:31:105:10:chr1 g.248801537G>A (intergenic),chr1 g.248801537G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801542 rs372631772 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:229:26.24:26.24:0.00:1.00:1.00:0.00:56:265.9:0:0:25:126:13:chr1 g.248801541A>G (intergenic),chr1 g.248801541A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801550 rs374446105 C T 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:232:26.98:26.98:0.00:1.00:1.00:0.00:56:260.9:0:0:32:118:19:chr1 g.248801549C>T (intergenic),chr1 g.248801549C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801556 rs79649486 C T 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:240:28.21:28.21:0.00:1.00:1.00:0.00:56:253.3:0:0:37:112:23:chr1 g.248801555C>T (intergenic),chr1 g.248801555C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801566 rs74154510 T G 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:G:13:13:0:0:13:342:40.21:40.21:0.00:1.00:1.00:0.00:56:225.8:0:0:24:127:23:chr1 g.248801565T>G (intergenic),chr1 g.248801565T>G (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 1 248801592 rs78622116 C T 77 lc VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=OR2T35/NM_001001827.1/1;CC=c.968G>A;ProtCh=p.G323D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:21:0:0:22:662:76.68:72.80:3.88:1.00:1.00:1.00:56:187.5:0:0:29:121:12:NM_001001827.1(OR2T35) c.968G>A (p.Gly323Asp),NM_001001827.1(OR2T35) c.968G>A (p.Gly323Asp):0.73,0.73:NOT_FOUND,NOT_FOUND 1 248801602 rs370874670 T TCA 72 lc VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=OR2T35/NM_001001827.1/1;CC=c.956_957dupTG;ProtCh=p.I320*;VC=FrameShiftIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:T,TCA:24:23:22:0:2,22:26,645:0.00,71.96:0.00,69.42:0.00,2.54:0.00,1.00:0.00,1.00:0.00,0.94:55,56:220.0,176.3:2,0:0,0:96,35:37,116:1,13:NM_001001827.1(OR2T35) c.956_957dupTG (p.Ile320*),NM_001001827.1(OR2T35) c.956_957dupTG (p.Ile320*):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801610 rs150878651 G A 85 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9966,A/0.003395;Gene=OR2T35/NM_001001827.1/1;CC=c.950C>T;ProtCh=p.A317V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:23:0:0:24:736:84.96:83.52:1.43:1.00:1.00:1.00:56:179.9:2:0:46:104:15:NM_001001827.1(OR2T35) c.950C>T (p.Ala317Val),NM_001001827.1(OR2T35) c.950C>T (p.Ala317Val):0.16,0.16:NOT_FOUND,NOT_FOUND 1 248801611 rs143981271 C T 81 lc VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=OR2T35/NM_001001827.1/1;CC=c.949G>A;ProtCh=p.A317T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A,T:24:23:0:0:1,23:11,708:0.38,81.21:0.38,77.35:0.00,3.86:0.00,1.00:0.00,1.00:0.00,0.97:56,55:287.0,175.3:0,0:0,0:125,47:22,104:0,14:NM_001001827.1(OR2T35) c.949G>A (p.Ala317Thr),NM_001001827.1(OR2T35) c.949G>A (p.Ala317Thr):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801633 rs74901534 A G 109 lc VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=OR2T35/NM_001001827.1/1;CC=c.927T>C;ProtCh=p.G309=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:27:0:0:29:951:108.90:93.89:15.01:1.00:1.00:1.00:53:133.9:0:0:63:88:22:NM_001001827.1(OR2T35) c.927T>C (p.(=)),NM_001001827.1(OR2T35) c.927T>C (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801778 rs61834268 A T 380 lc VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.4193,T/0.5807;Gene=OR2T35/NM_001001827.1/1;CC=c.782T>A;ProtCh=p.L261Q;VC=Missense;DM=OR2T35/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:105:88:0:0:1,104:5,3310:0.02,379.93:0.02,292.26:0.00,87.67:0.00,1.00:0.00,1.00:0.00,1.00:27,42:82.0,38.4:0,0:0,0:32,60:119,90:0,37:NM_001001827.1(OR2T35) c.782T>A (p.Leu261Gln),NM_001001827.1(OR2T35) c.782T>A (p.Leu261Gln):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248801944 rs143010547 TCAGCACG T 544 lc VT=DEL;SST=Single;DP=213;DB;DBA=NA;PAF=NA;NP=1459;Gene=OR2T35/NM_001001827.1/1;CC=c.609_615delCGTGCTG;ProtCh=p.C203*;VC=FrameShiftDel;DM=OR2T35/7tm_4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCAGCACG,T:213:133:0:178:35,178:1113,5016:0.00,543.68:0.00,263.20:0.00,280.48:0.00,1.00:0.00,1.00:0.00,1.00:44,46:6.3,4.7:0,0:0,0:142,83:6,66:5,28:-,NM_001001827.1(OR2T35) c.609_615delCGTGCTG (p.Cys203*):-,NOT_FOUND:-,NOT_FOUND 1 248802469 rs199678335 C T 39 lc VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=473;Gene=OR2T35/NM_001001827.1/1;CC=c.91G>A;ProtCh=p.V31I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:338:38.57:38.57:0.00:1.00:1.00:0.00:27:36.4:0:0:61:89:21:NM_001001827.1(OR2T35) c.91G>A (p.Val31Ile),NM_001001827.1(OR2T35) c.91G>A (p.Val31Ile):0.85,0.85:NOT_FOUND,NOT_FOUND 1 248802560 . G . . NT END=248813231;NT GT ./. 1 248802763 rs77518069 C T 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=1609 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:0:0:0:27:838:96.62:0.00:96.62:1.00:0.00:1.00:53:43.4:0:0:90:54:42:NM_001001827.1(OR2T35) c.1-u204G>A,NM_001001827.1(OR2T35) c.1-u204G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 1 248813135 rs4916153 G A 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2853,A/0.7147 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:A:16:16:0:0:16:427:50.11:50.11:0.00:1.00:1.00:0.00:60:44.9:0:0:49:101:38:chr1 g.248813134G>A (intergenic),chr1 g.248813134G>A (intergenic):0.68,0.68:NOT_FOUND,NOT_FOUND 1 248813547 rs201161767 G C 165 lc VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1051;Gene=OR2T27/NM_001001824.1/1;CC=c.639C>G;ProtCh=p.V213=;VC=Silent;DM=OR2T27/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:4:0:0:43:1446:165.10:15.21:149.89:1.00:1.00:1.00:40:42.1:0:0:110:41:22:NM_001001824.1(OR2T27) c.639C>G (p.(=)),NM_001001824.1(OR2T27) c.639C>G (p.(=)):0.67,0.67:NOT_FOUND,NOT_FOUND 1 248813785 rs200036975 A T 49 sb,lc VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=NA;Gene=OR2T27/NM_001001824.1/1;CC=c.401T>A;ProtCh=p.V134D;VC=Missense;DM=OR2T27/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:64:45:0:0:43,21:1330,568:0.00,49.20:0.00,51.12:0.00,-1.92:0.00,1.00:0.00,1.00:0.00,1.00:44,40:24.5,35.0:0,0:0,0:114,55:34,96:15,30:-,NM_001001824.1(OR2T27) c.401T>A (p.Val134Asp):-,NOT_FOUND:-,NOT_FOUND 1 248813827 rs1782241 T C 61 lc VT=SNV;PN=A;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=0.001;Gene=OR2T27/NM_001001824.1/1;CC=c.359A>G;ProtCh=p.Y120C;VC=Missense;DM=OR2T27/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:55:0:0:22,49:700,1525:61.43,0.00:29.23,0.00:32.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,43:52.2,21.4:0,0:0,0:86,37:65,114:35,29:NM_001001824.1(OR2T27) c.359A>G (p.Tyr120Cys),-:NOT_FOUND,-:NOT_FOUND,- 1 248813901 rs144600224 A T 40 lc VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=3125;Gene=OR2T27/NM_001001824.1/1;CC=c.285T>A;ProtCh=p.A95=;VC=Silent;DM=OR2T27/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:90:72:0:0:75,15:2463,506:0.00,40.16:0.00,35.98:0.00,4.18:0.00,1.00:0.00,1.00:0.00,0.99:43,40:14.0,51.1:0,0:0,0:77,59:73,92:32,40:-,NM_001001824.1(OR2T27) c.285T>A (p.(=)):-,0.75:-,NOT_FOUND 1 248814052 rs28533004 T A 97 lc VT=SNV;PN=C;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=3142;PC=0.022;Gene=OR2T27/NM_001001824.1/1;CC=c.134A>T;ProtCh=p.K45M;VC=Missense;DM=OR2T27/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:134:74:0:0:34,1,99:1138,10,3216:97.21,-0.23,0.00:46.96,-0.11,0.00:50.25,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,42,53:67.3,103.0,37.7:0,0,0:0,0,0:65,118,65:86,7,84:20,0,22:NM_001001824.1(OR2T27) c.134A>T (p.Lys45Met),-:0.57,-:NOT_FOUND,- 1 248814080 rs1782242 A C 560 lc VT=SNV;PN=A;NN=A;SST=Single;DP=152;DB;DBA=NA;PAF=A/0.05531,C/0.9447;Gene=OR2T27/NM_001001824.1/1;CC=c.106T>G;ProtCh=p.L36V;VC=Missense;DM=OR2T27/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:152:79:0:0:2,149,1:19,4927,12:0.00,559.80,0.11:0.00,204.06,0.00:0.00,355.74,0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,58,53:85.5,46.8,152.0:0,0,0:0,0,0:89,68,52:44,80,99:57,31,0:NM_001001824.1(OR2T27) c.106T>G (p.Leu36Val),NM_001001824.1(OR2T27) c.106T>G (p.Leu36Val):0.95,0.95:NOT_FOUND,NOT_FOUND 1 248814186 . A . . NT END=248902851;NT GT ./. 1 248814203 . A G 61 nt VT=SNV;PN=C;NN=A;SST=Single;DP=70;NP=71 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:28:0:0:49,21:1595,696:0.00,61.06:0.00,11.98:0.00,49.08:0.00,1.00:0.00,1.00:0.00,1.00:60,51:23.1,58.2:0,0:0,0:115,118:29,33:18,10:-,NM_001001824.1(OR2T27) c.1-u18T>C:-,NOT_FOUND:-,NOT_FOUND 1 248814216 rs202080638 C T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.7682,T/0.2318;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:59:17:0:0:53,6:1783,190:0.00,13.44:0.00,-0.51:0.00,13.96:0.00,0.83:0.00,0.74:0.00,0.98:60,27:26.4,65.5:0,0:0,0:120,130:28,20:15,2:-,NM_001001824.1(OR2T27) c.1-u31G>A:-,NOT_FOUND:-,NOT_FOUND 1 248844268 rs200531033 C CGTGTGT 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7931,CGTGTGT/.,CGTGTGTGT/0.2069;DB;DBA=NA;PAF=NA;NP=13;NP=2;NP=3;NP=4;NP=9;NP=96;PC=0.651;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,CGTGTGT:3:3:3:0:1,2:35,92:0.00,6.45:0.00,3.23:0.00,3.23:0.00,0.94:0.00,0.89:0.00,0.94:60,60:34.0,15.5:0,1:0,0:65,47:38,103:0,5:-,chr1 g.248844268_248844269insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 1 248903212 . G . . NT END=249106098;NT GT ./. 1 249105926 rs1127427 G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8239,C/0.1761;Gene=SH3BP5L/NM_030645.1/1;CC=c.*173C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:7:7:0:0:3,4:101,136:9.46,0.00:9.46,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:99.7,0.0:0,0:0,0:22,64:129,85:4,27:NM_030645.1(SH3BP5L) c.*173C>G,-:0.17,-:NOT_FOUND,- 1 249106570 . C . . NT END=249107187;NT GT ./. 1 249107362 . C . . NT END=249108647;NT GT ./. 1 249108810 . C . . NT END=249110732;NT GT ./. 1 249110862 . C . . NT END=249111020;NT GT ./. 1 249110906 rs4926508 G C 251 nt VT=SNV;PN=A;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.5735,A/.,C/0.4265;Gene=SH3BP5L/NM_030645.1/1;CC=c.247-45C>G;VC=Intron;DM=SH3BP5L/SH3BP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:69:38:0:0:69:2184:251.13:109.75:141.38:1.00:1.00:1.00:60:41.9:0:0:98:45:31:NM_030645.1(SH3BP5L) c.247-45C>G,NM_030645.1(SH3BP5L) c.247-45C>G:0.48,0.48:0.525834,0.525834 1 249111084 . C . . NT END=249111183;NT GT ./. 1 249111273 . a . . NT END=249118951;NT GT ./. 1 249119566 . C . . NT END=249120033;NT GT ./. 1 249120153 . T . . NT END=249141473;NT GT ./. 1 249141454 rs11555324 C T 246 nt VT=SNV;PN=C;NN=C;SST=Single;DP=161;DB;DBA=NA;PAF=C/0.9844,G/.,T/0.01558;Gene=ZNF672/NM_024836.2/1;CC=c.-20C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:161:144:0:0:84,77:2664,2580:0.00,246.32:0.00,185.18:0.00,61.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,41.6:0,0:0,0:38,63:109,81:18,31:-,NM_024836.1(ZNF672) c.-20C>T:-,0.02:-,0.036291 1 249142833 . T . . NT END=249144408;NT GT ./. 1 249144716 . C . . NT END=249144880;NT GT ./. 1 249144981 . C . . NT END=249148135;NT GT ./. 1 249148251 . C . . NT END=249149578;NT GT ./. 1 249149658 . C . . NT END=249149756;NT GT ./. 1 249149835 . C . . NT END=249149923;NT GT ./. 1 249150146 . C . . NT END=249150486;NT GT ./. 1 249150622 . C . . NT END=249150712;NT GT ./. 1 249150762 . C . . NT END=249151432;NT GT ./. 1 249152234 . C . . NT END=249152329;NT GT ./. 1 249152521 . C . . NT END=249152710;NT GT ./. 1 249152714 . G . . NT END=249208061;NT GT ./. 1 249208079 . G . . NT END=249208637;NT GT ./. 1 249208759 . G . . NT END=249210800;NT GT ./. 1 249212563 . C . . NT END=249250621;NT GT ./. 1 249231035 . GC G 8 nt VT=DEL;SST=Single;DP=6;NP=10;PC=1.000;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:GC,G:6:2:0:3:3,3:106,82:0.00,7.82:0.00,-0.30:0.00,8.12:0.00,0.73:0.00,0.79:0.00,0.73:40,38:47.7,8.3:0,0:0,0:119,124:30,27:16,3:-,chr1 g.249231036delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 1 . N . . NT END=41607;NT GT ./. 2 41628 . C . . NT END=41633;NT GT ./. 2 42332 . C . . NT END=42808;NT GT ./. 2 45895 rs4241318 A G 542 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.0007987,G/0.9992;Gene=FAM110C/NM_001077710.2/1;CC=c.491T>C;ProtCh=p.I164T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:147:84:0:0:147:4720:541.90:234.47:307.43:1.00:1.00:1.00:60:47.6:0:0:69:77:32:NM_001077710.2(FAM110C) c.491T>C (p.Ile164Thr),NM_001077710.2(FAM110C) c.491T>C (p.Ile164Thr):0.99,0.99:0.997652,0.997652 2 46386 . C . . NT END=218810;NT GT ./. 2 219002 . C . . NT END=224863;NT GT ./. 2 224919 rs2290911 A G 39 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.7444,G/0.2556;PC=0.968;Gene=SH3YL1/NM_001282687.1/1;CC=c.495T>C;ProtCh=p.S165=;VC=Silent;Gene=SH3YL1/NR_104227.1/0;VC=NonCoding;Gene=SH3YL1/NR_104226.1/0;VC=NonCoding;Gene=SH3YL1/NM_001159597.2/0;CC=c.781+5047T>C;VC=Intron;Gene=SH3YL1/NM_015677.3/0;CC=c.783T>C;ProtCh=p.S261=;VC=Silent;Gene=SH3YL1/NR_104225.1/0;VC=NonCoding;Gene=SH3YL1/NR_104223.1/0;VC=NonCoding;Gene=SH3YL1/NM_001282682.1/0;CC=c.493+5047T>C;VC=Intron;DM=SH3YL1/Ysc84 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:21:0:0:17,13:540,417:0.00,38.96:0.00,21.32:0.00,17.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.6,59.5:0,0:0,0:73,67:74,65:37,18:-,NM_015677.2(SH3YL1) c.783T>C (p.(=)):-,0.24:-,0.299102 2 224921 . C . . NT END=229965;NT GT ./. 2 224970 rs2290912 C T 83 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.405,T/0.595;Gene=SH3YL1/NM_001282687.1/1;CC=c.494-50G>A;VC=Intron;Gene=SH3YL1/NR_104227.1/0;VC=NonCoding;Gene=SH3YL1/NR_104226.1/0;VC=NonCoding;Gene=SH3YL1/NM_001159597.2/0;CC=c.781+4996G>A;VC=Intron;Gene=SH3YL1/NM_015677.3/0;CC=c.782-50G>A;VC=Intron;Gene=SH3YL1/NR_104225.1/0;VC=NonCoding;Gene=SH3YL1/NR_104223.1/0;VC=NonCoding;Gene=SH3YL1/NM_001282682.1/0;CC=c.493+4996G>A;VC=Intron;DM=SH3YL1/Ysc84 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:15:0:0:23:724:83.31:32.37:50.94:1.00:1.00:1.00:60:53.5:0:0:117:23:21:NM_015677.2(SH3YL1) c.782-50G>A,NM_015677.2(SH3YL1) c.782-50G>A:0.63,0.63:0.625382,0.625382 2 230045 . C . . NT END=231022;NT GT ./. 2 230912 rs2306060 A C 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7198,C/0.2802;Gene=SH3YL1/NM_001282687.1/1;CC=c.414+111T>G;VC=Intron;Gene=SH3YL1/NR_104227.1/0;VC=NonCoding;Gene=SH3YL1/NR_104226.1/0;VC=NonCoding;Gene=SH3YL1/NM_001159597.2/0;CC=c.702+111T>G;VC=Intron;Gene=SH3YL1/NM_015677.3/0;CC=c.702+111T>G;VC=Intron;Gene=SH3YL1/NR_104225.1/0;VC=NonCoding;Gene=SH3YL1/NR_104223.1/0;VC=NonCoding;Gene=SH3YL1/NM_001282682.1/0;CC=c.414+111T>G;VC=Intron;DM=SH3YL1/Ysc84 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:21:0:0:13,8:422,276:0.00,25.36:0.00,25.36:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.2,35.6:0,0:0,0:40,77:111,74:26,48:-,NM_015677.2(SH3YL1) c.702+111T>G:-,0.27:-,NOT_FOUND 2 231192 . C . . NT END=233100;NT GT ./. 2 233230 . C . . NT END=234159;NT GT ./. 2 234130 rs3748872 T G 59 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.6873,G/0.3127;PC=0.005;Gene=SH3YL1/NM_001282687.1/1;CC=c.116+30A>C;VC=Intron;Gene=SH3YL1/NR_104227.1/0;VC=NonCoding;Gene=SH3YL1/NR_104226.1/0;VC=NonCoding;Gene=SH3YL1/NM_001159597.2/0;CC=c.404+30A>C;VC=Intron;Gene=SH3YL1/NM_015677.3/0;CC=c.404+30A>C;VC=Intron;Gene=SH3YL1/NR_104225.1/0;VC=NonCoding;Gene=SH3YL1/NR_104223.1/0;VC=NonCoding;Gene=SH3YL1/NM_001282682.1/0;CC=c.116+30A>C;VC=Intron;DM=SH3YL1/Ysc84;DM=SH3YL1/Ysc84 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:35:31:0:0:18,17:612,549:59.26,0.00:38.76,0.00:20.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,1.7:0,0:0,0:34,31:112,120:23,23:NM_015677.2(SH3YL1) c.404+30A>C,-:0.36,-:0.292745,- 2 234273 . C . . NT END=247537;NT GT ./. 2 247603 . C . . NT END=249730;NT GT ./. 2 249845 . C . . NT END=253004;NT GT ./. 2 253116 . C . . NT END=263983;NT GT ./. 2 264019 rs7595075 C A 163 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.7356,A/0.2644;Gene=SH3YL1/NM_001159597.2/0;CC=c.-35G>T;VC=5UTR;Gene=SH3YL1/NM_015677.3/0;CC=c.-35G>T;VC=5UTR;Gene=SH3YL1/NR_104225.1/0;VC=NonCoding;Gene=SH3YL1/NR_104223.1/0;VC=NonCoding;Gene=SH3YL1/NM_001282682.1/0;CC=c.-422+763G>T;VC=Intron;Gene=SH3YL1/NR_104224.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:129:96:0:0:57,71,1:1739,2327,9:162.82,0.00,-0.18:88.83,0.00,-0.05:73.99,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.0,9.2,9.0:0,0,0:0,0,0:62,64,45:79,75,106:25,23,0:NM_015677.2(SH3YL1) c.-35G>T,-:0.26,-:0.303753,- 2 264069 . C . . NT END=264964;NT GT ./. 2 264227 rs7584915 G A 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7175,A/0.2825;PC=0.002;Gene=SH3YL1/NR_104225.1/0;VC=NonCoding;Gene=SH3YL1/NR_104223.1/0;VC=NonCoding;Gene=SH3YL1/NM_001282682.1/0;CC=c.-422+555C>T;VC=Intron;Gene=SH3YL1/NR_104224.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:0:0:0:8,11:227,347:20.89,0.00:0.00,0.00:20.89,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:36.6,22.8:0,0:0,0:81,113:69,33:28,32:NM_004300.3(ACP1) c.-96-u642G>A,-:0.27,-:NOT_FOUND,- 2 264895 rs4854300 G C 297 nt VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=3043;Gene=ACP1/NM_001040649.2/0;CC=c.-70G>C;VC=5UTR;Gene=ACP1/NM_004300.3/1;CC=c.-70G>C;VC=5UTR;Gene=ACP1/NM_007099.3/0;CC=c.-70G>C;VC=5UTR;Gene=ACP1/NR_024080.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:77:68:0:0:77:2607:297.33:200.74:96.59:1.00:1.00:1.00:60:40.3:0:0:48:98:34:NM_004300.3(ACP1) c.-70G>C,NM_004300.3(ACP1) c.-70G>C:1,1:0.999343,0.999343 2 265008 . G . . NT END=271865;NT GT ./. 2 271797 rs59937473 G A 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.7157,A/0.2843;PC=0.001;Gene=ACP1/NM_001040649.2/0;CC=c.44-69G>A;VC=Intron;Gene=ACP1/NM_004300.3/1;CC=c.44-69G>A;VC=Intron;Gene=ACP1/NM_007099.3/0;CC=c.44-69G>A;VC=Intron;Gene=ACP1/NR_024080.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:27:0:0:20,8:647,269:66.96,0.00:60.67,0.00:6.29,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:54.0,25.4:0,0:0,0:38,68:112,83:13,39:NM_004300.3(ACP1) c.44-69G>A,-:0.26,-:NOT_FOUND,- 2 271940 . G . . NT END=272036;NT GT ./. 2 271998 rs564501759 CA C,CAA 79 idl,nt VT=DEL;SST=Single;DP=70;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:95:A,CA,CAA,C:59:51:22:37:1,14,17,27:11,456,697,994:0.08,0.00,49.98,79.03:-0.06,0.00,43.37,46.75:0.14,0.00,6.61,32.29:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:16.0,21.5,31.2,16.8:0,0,5,6:0,0,0,0:1,101,43,57:149,26,106,93:0,40,32,40:NM_004300.3(ACP1) c.118-38delA,NM_004300.3(ACP1) c.118-38dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 272051 rs11553742 C T 99 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.9832,T/0.01677;PC=1.000;Gene=ACP1/NM_001040649.2/0;CC=c.132C>T;ProtCh=p.S44=;VC=Silent;Gene=ACP1/NM_004300.3/1;CC=c.132C>T;ProtCh=p.S44=;VC=Silent;Gene=ACP1/NM_007099.3/0;CC=c.117+112C>T;VC=Intron;Gene=ACP1/NR_024080.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:101:83:0:0:1,59,1,40:13,1873,10,1090:-0.06,0.00,-0.16,98.93:-0.17,0.00,-0.07,72.34:0.10,0.00,-0.09,26.59:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:21.0,6.3,48.0,32.8:0,0,0,0:0,0,0,0:23,54,139,46:127,95,12,104:0,29,0,26:-,NM_004300.3(ACP1) c.132C>T (p.(=)):-,0.03:-,0.040289 2 272203 rs11553746 C T 180 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.7566,T/0.2434;PC=1.000;Gene=ACP1/NM_001040649.2/0;CC=c.284C>T;ProtCh=p.T95I;VC=Missense;Gene=ACP1/NM_004300.3/1;CC=c.231+53C>T;VC=Intron;Gene=ACP1/NM_007099.3/0;CC=c.129C>T;ProtCh=p.D43=;VC=Silent;Gene=ACP1/NR_024080.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:118:69:0:0:59,1,58:1985,12,1880:0.00,-0.08,180.45:0.00,0.03,79.22:0.00,-0.11,101.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.7,165.0,42.5:0,0,0:0,0,0:79,106,93:68,40,56:40,0,22:-,NM_004300.3(ACP1) c.231+53C>T:-,0.24:-,0.285407 2 272482 . T . . NT END=275139;NT GT ./. 2 275202 . G . . NT END=276979;NT GT ./. 2 276908 rs7568288 C G 71 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.07867,G/0.9213;PC=0.675;Gene=ACP1/NM_004300.3/1;CC=c.294-72C>G;VC=Intron;Gene=ACP1/NM_007099.3/0;CC=c.294-72C>G;VC=Intron;Gene=ACP1/NR_024080.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:616:70.61:65.00:5.62:1.00:1.00:1.00:60:61.3:0:0:61:88:26:NM_004300.3(ACP1) c.294-72C>G,NM_004300.3(ACP1) c.294-72C>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 276942 rs7573495 A G 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.6791,G/0.3209;PC=0.735;Gene=ACP1/NM_004300.3/1;CC=c.294-38A>G;VC=Intron;Gene=ACP1/NM_007099.3/0;CC=c.294-38A>G;VC=Intron;Gene=ACP1/NR_024080.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:27:0:0:12,18:376,564:0.00,56.22:0.00,43.65:0.00,12.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.4,52.2:0,0:0,0:34,48:115,102:22,35:-,NM_004300.3(ACP1) c.294-38A>G:-,0.37:-,0.292444 2 277003 rs79716074 A G 39 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=A/0.7358,G/0.2642;PC=1.000;Gene=ACP1/NM_004300.3/1;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=ACP1/NM_007099.3/0;CC=c.317A>G;ProtCh=p.Q106R;VC=Missense;Gene=ACP1/NR_024080.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:33:0:0:27,13:893,441:0.00,39.35:0.00,23.78:0.00,15.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.7,37.8:0,0:0,0:55,48:81,93:32,25:-,NM_004300.3(ACP1) c.317A>G (p.Gln106Arg):-,0.25:-,0.303464 2 277086 . G . . NT END=277226;NT GT ./. 2 277305 . G . . NT END=280146;NT GT ./. 2 280153 . C . . NT END=283110;NT GT ./. 2 283176 . C . . NT END=283180;NT GT ./. 2 283231 rs386389378 A AT 256 rn VT=INS;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.07967,AT/0.9203;DB;DBA=NA;PAF=A/0.07967,AT/0.9203;DB;DBA=NA;PAF=A/0.07967,AT/0.9203;DB;DBA=NA;PAF=A/0.07967,AT/0.9203,ATT/.;NP=2352;Gene=FAM150B/NM_001002919.2/1;CC=c.389-57dupA;VC=Intron;DM=FAM150B/FAM150;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,AT:89:60:76:0:13,76:367,2359:0.00,256.25:0.00,138.35:0.00,117.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.2,10.0:1,0:0,0:131,83:7,60:13,35:-,NM_001002919.2(FAM150B) c.389-57_389-56insA:-,0.91:-,NOT_FOUND 2 283595 . C . . NT END=286121;NT GT ./. 2 283794 rs10199876 T A 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3401,A/0.6599;Gene=FAM150B/NM_001002919.2/1;CC=c.389-619A>T;VC=Intron;DM=FAM150B/FAM150 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:245:27.84:0.00:27.84:1.00:0.00:1.00:60:38.1:0:0:108:41:20:NM_001002919.2(FAM150B) c.389-619A>T,NM_001002919.2(FAM150B) c.389-619A>T:0.68,0.68:NOT_FOUND,NOT_FOUND 2 286204 . C . . NT END=286288;NT GT ./. 2 286344 . C . . NT END=287581;NT GT ./. 2 287448 rs67240058 TAAA T 12 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TAAA/0.08087,T/0.9191;DB;DBA=NA;PAF=TAAA/0.08087,T/0.9191;NP=23;PC=0.159;Gene=FAM150B/NM_001002919.2/1;CC=c.253+132_253+134delTTT;VC=Intron;DM=FAM150B/FAM150;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:TAAA,T:9:13:0:8:5,4:142,235:0.00,11.77:0.00,11.77:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,70:47.8,56.2:0,4:0,0:103,30:21,118:18,11:-,NM_001002919.2(FAM150B) c.253+132_253+134delTTT:-,NOT_FOUND:-,NOT_FOUND 2 287893 . C . . NT END=288012;NT GT ./. 2 288309 . C . . NT END=669579;NT GT ./. 2 313392 rs7355657 G C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3562,C/0.6438;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:131:15.01:11.83:3.18:1.00:1.00:1.00:60:38.2:0:0:15:129:6:chr2 g.313391G>C (intergenic),chr2 g.313391G>C (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 2 669676 . C . . NT END=669756;NT GT ./. 2 669851 . C . . NT END=672807;NT GT ./. 2 672863 . C . . NT END=675509;NT GT ./. 2 675631 . C . . NT END=675757;NT GT ./. 2 676177 rs2293083 C G 309 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=176;DB;DBA=NA;PAF=C/0.3191,G/0.6809,T/.;Gene=TMEM18/NM_152834.2/1;CC=c.58-547G>C;VC=Intron;DM=TMEM18/TMEM18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:176:120:0:0:79,97:2668,3150:0.00,308.54:0.00,151.38:0.00,157.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,41.1:0,0:0,0:68,79:78,64:32,41:-,NM_152834.2(TMEM18) c.58-547G>C:-,0.7:-,NOT_FOUND 2 676239 . C . . NT END=676573;NT GT ./. 2 676457 rs2293082 G C 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.2133,C/0.7867;Gene=TMEM18/NM_152834.2/1;CC=c.58-827C>G;VC=Intron;DM=TMEM18/TMEM18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:49:30:0:0:26,23:808,672:78.53,0.00:47.28,0.00:31.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,21.3:0,0:0,0:80,69:70,80:35,44:NM_152834.2(TMEM18) c.58-827C>G,-:0.8,-:NOT_FOUND,- 2 676478 rs3215297 T TGTAA 74 nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.2067,TGTAA/0.7933;NP=127;PC=0.001;Gene=TMEM18/NM_152834.2/1;CC=c.57+810_57+811insTTAC;VC=Intron;DM=TMEM18/TMEM18;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TGTAA:49:34:25:0:24,25:742,764:0.00,73.60:0.00,47.73:0.00,25.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.4,32.9:0,0:0,0:55,72:93,79:35,37:-,NM_152834.2(TMEM18) c.57+810_57+811insTTAC:-,NOT_FOUND:-,NOT_FOUND 2 676638 . A . . NT END=677288;NT GT ./. 2 677213 rs3749138 G A 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.1957,A/0.8043;Gene=TMEM18/NM_152834.2/1;CC=c.57+76C>T;VC=Intron;DM=TMEM18/TMEM18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:33:0:0:15,21:494,610:45.98,0.00:36.65,0.00:9.34,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:35.7,13.3:0,0:0,0:25,27:115,122:19,17:NM_152834.2(TMEM18) c.57+76C>T,-:0.82,-:NOT_FOUND,- 2 677346 . G . . NT END=946682;NT GT ./. 2 942733 rs12989400 C T 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9006,T/0.09944;PC=0.567 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:131:15.01:5.67:9.34:1.00:1.00:1.00:60:40.5:0:0:52:93:3:NM_018968.3(SNTG2) c.-129-u3821C>T,NM_018968.3(SNTG2) c.-129-u3821C>T:0.11,0.11:NOT_FOUND,NOT_FOUND 2 946755 . G . . NT END=1079203;NT GT ./. 2 951842 rs13397119 C CCCTGCT 12 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=SNTG2/NM_018968.3/1;CC=c.72+5093_72+5094insTCCTGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T,CCCTGCT:9:2:5:0:2,2,5:54,24,114:0.00,1.84,11.68:0.00,0.00,2.57:0.00,1.84,9.11:0.00,0.00,0.96:0.00,0.00,0.84:0.00,0.00,0.96:60,60,60:70.5,52.0,11.8:0,0,0:0,0,0:96,6,59:34,143,57:44,4,25:-,NM_018968.3(SNTG2) c.72+5088_72+5089insCCTGCT:-,NOT_FOUND:-,NOT_FOUND 2 1078945 rs5828804 AAC A 12 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AAC/0.2121,A/0.7879;DB;DBA=NA;PAF=AAC/0.2121,A/0.7879;Gene=SNTG2/NM_018968.3/1;CC=c.73-257_73-256delCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AAC,A:6:6:0:4:2,4:66,120:0.00,12.25:0.00,12.25:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,7.5:0,0:0,0:61,26:88,116:38,7:-,NM_018968.3(SNTG2) c.73-258_73-257delAC:-,0.76:-,NOT_FOUND 2 1079143 rs4971431 A G 104 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.2428,G/0.7572;Gene=SNTG2/NM_018968.3/1;CC=c.73-61A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:46:0:0:22,31:672,1047:0.00,103.95:0.00,72.35:0.00,31.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,40.1:0,0:0,0:49,52:101,90:33,34:-,NM_018968.3(SNTG2) c.73-61A>G:-,0.76:-,NOT_FOUND 2 1079320 rs4971432 C T 122 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.3309,T/0.6691;PC=0.999;Gene=SNTG2/NM_018968.3/1;CC=c.189C>T;ProtCh=p.G63=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:48:0:0:40,38:1273,1272:0.00,121.91:0.00,38.09:0.00,83.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.1,39.6:0,0:0,0:74,62:72,81:32,37:-,NM_018968.3(SNTG2) c.189C>T (p.(=)):-,0.72:-,0.72526 2 1079342 . G . . NT END=1093881;NT GT ./. 2 1093616 rs6729178 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9097,T/0.09026;Gene=SNTG2/NM_018968.3/1;CC=c.211-266C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,33.0:0,0:0,0:110,15:41,136:0,1:-,NM_018968.3(SNTG2) c.211-266C>T:-,0.1:-,NOT_FOUND 2 1093939 . G . . NT END=1094038;NT GT ./. 2 1093965 rs11127460 G A 129 nt VT=SNV;PN=T;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.7021,A/0.2979,C/.;Gene=SNTG2/NM_018968.3/1;CC=c.267+27G>A;VC=Intron;DM=SNTG2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:62:0:0:45,49:1361,1667:129.25,0.00:72.37,0.00:56.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,3.9:0,0:0,0:56,80:80,71:41,33:NM_018968.3(SNTG2) c.267+27G>A,-:0.34,-:0.395707,- 2 1094097 . G . . NT END=1133307;NT GT ./. 2 1133188 rs71392567 G GCACA 36 idl,nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=280;Gene=SNTG2/NM_018968.3/1;CC=c.326-105_326-104insACAC;VC=Intron;DM=SNTG2/PDZ;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCACA,D:28:30:15:1:14,13,1:482,450,33:0.00,36.05,2.09:0.00,32.32,2.10:0.00,3.73,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.90,0.00:60,60,60:3.9,2.8,0.0:0,2,0:0,0,0:65,54,26:85,97,124:24,39,0:-,NM_018968.3(SNTG2) c.326-120_326-119insCACA:-,NOT_FOUND:-,NOT_FOUND 2 1133352 . G . . NT END=1133453;NT GT ./. 2 1133367 rs79642551 G A 116 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.9213,A/0.07867;Gene=SNTG2/NM_018968.3/1;CC=c.369+16G>A;VC=Intron;DM=SNTG2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:56:0:0:38,44:1229,1413:116.45,0.00:50.59,0.00:65.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,1.8:0,0:0,0:75,69:72,79:32,29:NM_018968.3(SNTG2) c.369+16G>A,-:0.08,-:0.099934,- 2 1133496 . G . . NT END=1161233;NT GT ./. 2 1150873 rs62654140 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2288,C/0.7712;NP=1;NP=341;Gene=SNTG2/NM_018968.3/1;CC=c.412-10361T>C;VC=Intron;DM=SNTG2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:106,34:11.05,0.00:5.53,0.00:5.53,0.00:0.85,0.00:0.85,0.00:0.85,0.00:60,60:94.3,0.0:0,0:0,0:93,23:58,63:13,0:NM_018968.3(SNTG2) c.412-10361T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 1161295 rs61744692 C T 98 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.994,T/0.00599;PC=1.000;Gene=SNTG2/NM_018968.3/1;CC=c.473C>T;ProtCh=p.A158V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:35:0:0:16,31:532,962:0.00,97.87:0.00,51.33:0.00,46.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,41.5:0,0:0,0:94,86:44,59:21,28:-,NM_018968.3(SNTG2) c.473C>T (p.Ala158Val):-,0.01:-,0.017224 2 1161322 . G . . NT END=1168777;NT GT ./. 2 1168870 . G . . NT END=1204788;NT GT ./. 2 1193201 rs74164499 A ATG 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=2;NP=23;NP=69;PC=0.014;Gene=SNTG2/NM_018968.3/1;CC=c.592-11553_592-11552insGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATG:4:4:3:0:1,3:33,84:0.00,8.85:0.00,6.15:0.00,2.70:0.00,0.85:0.00,0.85:0.00,0.99:30,70:0.0,0.0:0,0:0,0:18,104:33,47:0,4:-,NM_018968.3(SNTG2) c.592-11588_592-11587insTG:-,NOT_FOUND:-,NOT_FOUND 2 1204917 . G . . NT END=1241659;NT GT ./. 2 1241502 rs28628894 G T 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6981,T/0.3019;Gene=SNTG2/NM_018968.3/1;CC=c.720-158G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:25:0:0:15,10:381,345:0.00,32.06:0.00,32.06:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:33.5,76.9:0,0:0,0:67,39:84,112:33,15:-,NM_018968.3(SNTG2) c.720-158G>T:-,0.25:-,NOT_FOUND 2 1241592 rs146197111 C T 242 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1769;Gene=SNTG2/NM_018968.3/1;CC=c.720-68C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:66:65:0:0:66:2102:241.66:210.44:31.22:1.00:1.00:1.00:60:54.9:0:0:44:103:32:NM_018968.3(SNTG2) c.720-68C>T,NM_018968.3(SNTG2) c.720-68C>T:1,1:NOT_FOUND,NOT_FOUND 2 1241623 rs28541377 G A 128 nt VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.7274,A/0.2726;Gene=SNTG2/NM_018968.3/1;CC=c.720-37G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:78:0:0:40,44:1344,1340:128.31,0.00:101.69,0.00:26.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.9,29.1:0,0:0,0:49,38:96,112:27,20:NM_018968.3(SNTG2) c.720-37G>A,-:0.22,-:0.202212,- 2 1241790 . G . . NT END=1243509;NT GT ./. 2 1241905 rs28583446 T C 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.6953,C/0.3047;PC=0.002;Gene=SNTG2/NM_018968.3/1;CC=c.849+116T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:39:2:0:0:2,21,16:20,690,521:0.37,67.98,0.00:0.00,3.71,0.00:0.37,64.27,0.00:0.00,1.00,0.00:0.00,0.82,0.00:0.00,1.00,0.00:60,60,60:193.5,68.1,2.8:0,0,0:0,0,0:39,117,114:101,34,36:32,22,20:NM_018968.3(SNTG2) c.849+116T>C,-:0.25,-:NOT_FOUND,- 2 1241944 rs28502413 G C 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6128,C/0.3872;Gene=SNTG2/NM_018968.3/1;CC=c.849+155G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:0:0:0:12,9:385,286:38.00,0.00:0.00,0.00:38.00,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:94.1,2.8:0,0:0,0:117,121:27,29:10,27:NM_018968.3(SNTG2) c.849+155G>C,-:0.32,-:NOT_FOUND,- 2 1241984 rs28435516 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6957,A/0.3043;Gene=SNTG2/NM_018968.3/1;CC=c.849+195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,G:12:0:0:0:6,6:144,197:13.62,0.00:0.00,0.00:13.62,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:101.7,6.2:0,0:0,0:109,79:41,70:30,37:NM_018968.3(SNTG2) c.849+195G>A,-:0.25,-:NOT_FOUND,- 2 1243447 rs58094864 A G 94 nt VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.7262,G/0.2738;Gene=SNTG2/NM_018968.3/1;CC=c.850-63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:61:53:0:0:31,30:974,985:0.00,94.48:0.00,57.64:0.00,36.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,35.0:0,0:0,0:54,53:97,91:33,16:-,NM_018968.3(SNTG2) c.850-63A>G:-,0.22:-,0.202146 2 1243549 . G . . NT END=1251098;NT GT ./. 2 1251087 rs58278307 A AAAGGTT 67 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=4;PC=0.041;Gene=SNTG2/NM_018968.3/1;CC=c.889-12_889-11insAAGGTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AAAGGTT:42:37:22:0:19,1,22:628,13,692:0.00,0.17,67.39:0.00,0.25,44.49:0.00,-0.08,22.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.8,183.0,36.9:0,0,0:0,0,0:40,141,61:109,10,90:20,0,31:-,NM_018968.3(SNTG2) c.889-12_889-11insAAGGTT:-,0.3:-,NOT_FOUND 2 1251088 rs55953201 C T 73 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.994;Gene=SNTG2/NM_018968.3/1;CC=c.889-11C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:37:0:0:20,23:660,746:0.00,72.65:0.00,47.39:0.00,25.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.6,36.7:0,0:0,0:40,68:109,83:21,32:-,NM_018968.3(SNTG2) c.889-11C>T:-,NOT_FOUND:-,NOT_FOUND 2 1251216 . G . . NT END=1263141;NT GT ./. 2 1251344 rs28694128 G A 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6106,A/0.3894;Gene=SNTG2/NM_018968.3/1;CC=c.1005+129G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G:12:0:0:0:9,3:268,82:28.20,0.00:0.00,0.00:28.20,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:45.8,13.7:0,0:0,0:120,72:31,79:27,30:NM_018968.3(SNTG2) c.1005+129G>A,-:0.32,-:NOT_FOUND,- 2 1262839 rs9286350 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7316,C/0.2684;Gene=SNTG2/NM_018968.3/1;CC=c.1006-303T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:5:5:0:0:4,1:136,33:14.42,0.00:14.42,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:34.0,43.0:0,0:0,0:10,12:141,125:5,0:NM_018968.3(SNTG2) c.1006-303T>C,-:0.23,-:NOT_FOUND,- 2 1263005 rs9330340 A G 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6472,G/0.3528;Gene=SNTG2/NM_018968.3/1;CC=c.1006-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:23:0:0:11,12:331,401:0.00,38.91:0.00,38.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.8,34.8:0,0:0,0:83,52:68,98:34,30:-,NM_018968.3(SNTG2) c.1006-137A>G:-,0.3:-,NOT_FOUND 2 1263214 . G . . NT END=1271136;NT GT ./. 2 1263297 rs9330341 G A 46 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.723,A/0.277;Gene=SNTG2/NM_018968.3/1;CC=c.1077+84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:3:0:0:15,12:466,403:45.65,0.00:1.51,0.00:44.14,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:31.1,0.0:0,0:0,0:124,105:27,44:16,27:NM_018968.3(SNTG2) c.1077+84G>A,-:0.23,-:NOT_FOUND,- 2 1270968 rs35492456 G A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6352,A/0.3648;Gene=SNTG2/NM_018968.3/1;CC=c.1078-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:14:0:0:7,7:221,216:21.22,0.00:21.22,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:44.9,10.0:0,0:0,0:23,108:128,43:19,33:NM_018968.3(SNTG2) c.1078-169G>A,-:0.3,-:NOT_FOUND,- 2 1271110 rs28626835 G T 94 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.7632,A/.,T/0.2368;Gene=SNTG2/NM_018968.3/1;CC=c.1078-27G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:62:57:0:0:32,30:999,983:0.00,93.93:0.00,68.73:0.00,25.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,46.5:0,0:0,0:33,44:116,99:20,20:-,NM_018968.3(SNTG2) c.1078-27G>T:-,0.2:-,0.172508 2 1271230 rs13023962 A G 168 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=127;DB;DBA=NA;PAF=A/0.64,G/0.36,T/.;PC=0.999;Gene=SNTG2/NM_018968.3/1;CC=c.1171A>G;ProtCh=p.I391V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:127:96:0:0:71,55,1:2408,1790,15:0.00,167.70,-0.01:0.00,73.49,0.09:0.00,94.21,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:1.8,41.1,61.0:0,0,0:0,0,0:79,65,150:68,84,1:33,33,0:-,NM_018968.3(SNTG2) c.1171A>G (p.Ile391Val):-,0.3:-,0.30496 2 1271344 . G . . NT END=1312265;NT GT ./. 2 1271426 rs12997053 C T 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.6364,T/0.3636;PC=0.001;Gene=SNTG2/NM_018968.3/1;CC=c.1284+83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:4:0:0:22,10:633,321:0.00,28.26:0.00,1.41:0.00,26.85:0.00,1.00:0.00,0.78:0.00,1.00:60,60:31.0,48.7:0,0:0,0:112,124:39,27:27,19:-,NM_018968.3(SNTG2) c.1284+83C>T:-,0.3:-,NOT_FOUND 2 1271452 rs115957181 G C 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.9942,C/0.005791;PC=0.004;Gene=SNTG2/NM_018968.3/1;CC=c.1284+109G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:0:0:0:14,7:456,219:46.40,0.00:0.00,0.00:46.40,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.4,73.6:0,0:0,0:105,53:45,98:31,45:NM_018968.3(SNTG2) c.1284+109G>C,-:0.01,-:NOT_FOUND,- 2 1271519 rs201748886 TA T 9 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TA/0.6368,T/0.3632;NP=65;Gene=SNTG2/NM_018968.3/1;CC=c.1284+179delA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:TA,T:9:0:0:3:6,3:151,96:0.00,8.55:0.00,0.00:0.00,8.55:0.00,0.64:0.00,0.00:0.00,0.64:60,60:82.7,83.0:0,0:0,0:96,105:55,46:12,15:-,NM_018968.3(SNTG2) c.1284+177delA:-,0.3:-,NOT_FOUND 2 1271523 rs374135801 T C 12 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6364,C/0.3636;Gene=SNTG2/NM_018968.3/1;CC=c.1284+180T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,T:9:0:0:0:4,5:126,130:11.85,0.00:0.00,0.00:11.85,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:101.0,68.2:4,0:0,0:91,109:59,42:18,18:NM_018968.3(SNTG2) c.1284+180T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 1271544 rs36193973 A G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.724,G/0.276;Gene=SNTG2/NM_018968.3/1;CC=c.1284+201A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G:9:0:0:0:4,5:78,118:0.00,11.47:0.00,0.00:0.00,11.47:0.00,0.96:0.00,0.00:0.00,0.96:60,60:76.2,89.8:0,0:0,0:121,96:30,55:10,33:-,NM_018968.3(SNTG2) c.1284+201A>G:-,0.23:-,NOT_FOUND 2 1285070 rs77301222 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=11;PC=0.004;Gene=SNTG2/NM_018968.3/1;CC=c.1284+13727A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:4:4:0:0:2,2:30,69:0.00,6.67:0.00,4.83:0.00,1.84:0.00,0.51:0.00,0.51:0.00,0.67:41,24:104.5,102.5:0,0:0,0:92,11:57,88:2,0:-,NM_018968.3(SNTG2) c.1284+13727A>G:-,NOT_FOUND:-,NOT_FOUND 2 1310457 rs79639516 A AGTGTGTGTGTGT 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5615,AGT/0.4385;DB;DBA=NA;PAF=A/0.5615,AGT/0.4385;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=125;NP=2;NP=2;NP=22;NP=3;NP=4;NP=4;PC=0.683;Gene=SNTG2/NM_018968.3/1;CC=c.1285-1784_1285-1783insTGTGTGTGTGTG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:AGTGTGTGTGTGT:2:4:5:0:2:157:6.66:3.18:3.48:0.46:0.87:0.60:60:17.5:3:0:60:89:19:NM_018968.3(SNTG2) c.1285-1809_1285-1808insGTGTGTGTGTGT,NM_018968.3(SNTG2) c.1285-1809_1285-1808insGTGTGTGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 1310555 rs9751877 A G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4425,G/0.5575;PC=0.193;Gene=SNTG2/NM_018968.3/1;CC=c.1285-1711A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:178:20.19:3.98:16.21:1.00:1.00:1.00:70:44.2:0:0:107:40:33:NM_018968.3(SNTG2) c.1285-1711A>G,NM_018968.3(SNTG2) c.1285-1711A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 2 1311157 rs13021490 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8778,T/0.1222;PC=0.001;Gene=SNTG2/NM_018968.3/1;CC=c.1285-1109C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,T:4:1:0:0:1,3:8,91:0.00,9.63:0.00,1.73:0.00,7.90:0.00,0.85:0.00,0.83:0.00,0.85:60,60:11.0,99.3:0,0:0,0:67,78:83,65:0,0:-,NM_018968.3(SNTG2) c.1285-1109C>T:-,0.09:-,NOT_FOUND 2 1312359 . G . . NT END=1320036;NT GT ./. 2 1319892 rs4927634 A T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4952,T/0.5048;Gene=SNTG2/NM_018968.3/1;CC=c.1378-145A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:276:31.42:31.42:0.00:1.00:1.00:0.00:60:34.5:0:0:16:135:13:NM_018968.3(SNTG2) c.1378-145A>T,NM_018968.3(SNTG2) c.1378-145A>T:0.49,0.49:NOT_FOUND,NOT_FOUND 2 1320143 rs4927635 C T 153 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.4946,T/0.5054;PC=1.000;Gene=SNTG2/NM_018968.3/1;CC=c.1484C>T;ProtCh=p.T495M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:T:42:25:0:0:42:1332:153.15:66.96:86.19:1.00:1.00:1.00:60:41.5:0:0:93:56:19:NM_018968.3(SNTG2) c.1484C>T (p.Thr495Met),NM_018968.3(SNTG2) c.1484C>T (p.Thr495Met):0.49,0.49:0.498029,0.498029 2 1320148 . G . . NT END=1371114;NT GT ./. 2 1320300 rs35466197 A G 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4964,G/0.5036;Gene=SNTG2/NM_018968.3/1;CC=c.1488+153A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C,G:16:0:0:0:1,15:12,508:0.57,57.54:0.00,0.00:0.57,57.54:0.00,1.00:0.00,0.00:0.00,1.00:60,60:51.0,110.0:0,0:0,0:46,108:71,43:0,16:NM_018968.3(SNTG2) c.1488+153A>G,NM_018968.3(SNTG2) c.1488+153A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 1320304 rs74994128 C A 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4966,A/0.5034;NP=27;Gene=SNTG2/NM_018968.3/1;CC=c.1488+157C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A,C:16:0:0:0:15,1:375,17:42.88,0.00:0.00,0.00:42.88,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:104.1,140.0:0,0:0,0:110,112:41,39:20,0:NM_018968.3(SNTG2) c.1488+157C>A,NM_018968.3(SNTG2) c.1488+157C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 1320305 rs79534404 G C 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4966,C/0.5034;NP=31;Gene=SNTG2/NM_018968.3/1;CC=c.1488+158G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C,G:16:0:0:0:15,1:451,12:50.74,0.00:0.00,0.00:50.74,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:110.0,51.0:0,0:0,0:113,51:38,66:16,0:NM_018968.3(SNTG2) c.1488+158G>C,NM_018968.3(SNTG2) c.1488+158G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 1332690 rs397702556 T TAC 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.002;Gene=SNTG2/NM_018968.3/1;CC=c.1488+12549_1488+12550insAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TAC:4:0:4:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:10.8:0:0:110:40:5:NM_018968.3(SNTG2) c.1488+12543_1488+12544insAC,NM_018968.3(SNTG2) c.1488+12543_1488+12544insAC:0.52,0.52:NOT_FOUND,NOT_FOUND 2 1371247 . A . . NT END=1417460;NT GT ./. 2 1417199 rs2071402 G A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.608,A/0.392 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:12:12:0:0:4,8:138,240:12.39,0.00:12.39,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:60,60:70.0,2.8:0,0:0,0:57,14:93,137:29,7:NM_000547.5(TPO) c.-91-u34G>A,-:0.36,-:NOT_FOUND,- 2 1417244 rs2071403 A G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3676,G/0.6324;Gene=TPO/NM_000547.5/1;CC=c.-80A>G;VC=5UTR;Gene=TPO/NM_001206744.1/0;CC=c.-75A>G;VC=5UTR;Gene=TPO/NM_001206745.1/0;CC=c.-75A>G;VC=5UTR;Gene=TPO/NM_175719.3/0;CC=c.-80A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:262,271:0.00,25.83:0.00,25.83:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:2.4,57.9:0,0:0,0:59,38:92,113:10,28:-,NM_000547.5(TPO) c.-80A>G:-,0.6:-,NOT_FOUND 2 1417496 . G . . NT END=1418179;NT GT ./. 2 1417981 rs9326166 G A 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6214,A/0.3786;Gene=TPO/NM_000547.5/1;CC=c.-1-199G>A;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.-1-199G>A;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.-1-199G>A;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.-1-199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:9:9:0:0:6,3:183,107:18.66,0.00:18.66,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:70.3,0.0:0,0:0,0:74,85:76,66:18,5:NM_000547.5(TPO) c.-1-199G>A,-:0.38,-:NOT_FOUND,- 2 1417983 rs9326167 G A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6232,A/0.3768;Gene=TPO/NM_000547.5/1;CC=c.-1-197G>A;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.-1-197G>A;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.-1-197G>A;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.-1-197G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:9:9:0:0:6,3:198,96:20.17,0.00:20.17,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:70.3,0.0:0,0:0,0:76,87:74,64:18,5:NM_000547.5(TPO) c.-1-197G>A,-:0.38,-:NOT_FOUND,- 2 1418192 rs9678281 C G 131 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=NA;Gene=TPO/NM_000547.5/1;CC=c.12C>G;ProtCh=p.L4=;VC=Silent;Gene=TPO/NM_001206744.1/0;CC=c.12C>G;ProtCh=p.L4=;VC=Silent;Gene=TPO/NM_001206745.1/0;CC=c.12C>G;ProtCh=p.L4=;VC=Silent;Gene=TPO/NM_175719.3/0;CC=c.12C>G;ProtCh=p.L4=;VC=Silent;Gene=TPO/NM_175721.3/0;CC=c.12C>G;ProtCh=p.L4=;VC=Silent;Gene=TPO/NM_175722.3/0;CC=c.12C>G;ProtCh=p.L4=;VC=Silent;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:98:82:0:0:1,54,43:18,1756,1398:0.22,0.00,131.38:0.32,0.00,77.34:-0.10,0.00,54.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:77.0,9.7,37.0:0,0,0:0,0,0:64,70,48:86,67,89:0,37,28:-,NM_000547.5(TPO) c.12C>G (p.(=)):-,0.33:-,0.355298 2 1418275 . G . . NT END=1426816;NT GT ./. 2 1426621 rs2276702 A G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.479,G/0.521;Gene=TPO/NM_000547.5/1;CC=c.95-196A>G;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.95-196A>G;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.95-196A>G;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.95-196A>G;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.95-196A>G;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.95-196A>G;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:14:14:0:0:8,6:229,185:0.00,17.22:0.00,17.22:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:35.8,33.0:0,0:0,0:27,31:122,120:18,24:-,NM_000547.5(TPO) c.95-196A>G:-,0.53:-,NOT_FOUND 2 1426902 . G . . NT END=1437209;NT GT ./. 2 1437380 . G . . NT END=1440023;NT GT ./. 2 1437410 rs4927578 C T 178 nt VT=SNV;PN=G;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.5627,A/.,T/0.4373;PC=0.008;Gene=TPO/NM_000547.5/1;CC=c.349+31C>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.349+31C>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.349+31C>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.349+31C>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.349+31C>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.349+31C>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:52:0:0:45,56:1398,1810:0.00,177.62:0.00,65.17:0.00,112.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,34.7:0,0:0,0:112,94:37,55:25,18:-,NM_000547.5(TPO) c.349+31C>T:-,0.49:-,0.49554 2 1440157 . G . . NT END=1457465;NT GT ./. 2 1457364 rs2070881 A G 159 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.07228,G/0.9277;Gene=TPO/NM_000547.5/1;CC=c.483-102A>G;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.483-102A>G;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.483-102A>G;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.483-102A>G;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.483-102A>G;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.483-102A>G;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:44:0:0:45:1379:159.22:135.76:23.46:1.00:1.00:1.00:60:40.1:0:0:31:118:23:NM_000547.5(TPO) c.483-102A>G,NM_000547.5(TPO) c.483-102A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 1457596 . G . . NT END=1459847;NT GT ./. 2 1459806 rs4927610 A G 197 nt VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.0647,G/0.9353,T/.;Gene=TPO/NM_000547.5/1;CC=c.613-42A>G;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.613-42A>G;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.613-42A>G;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.613-42A>G;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.613-42A>G;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.613-42A>G;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:G,T:62:56:0:0:61,1:1685,11:196.67,0.19:151.48,0.19:45.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,83.0:0,0:0,0:50,56:101,92:31,0:NM_000547.5(TPO) c.613-42A>G,NM_000547.5(TPO) c.613-42A>G:0.93,0.93:0.928385,0.928385 2 1460055 . G . . NT END=1480857;NT GT ./. 2 1460220 rs11694726 C T 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9123,T/0.08766;Gene=TPO/NM_000547.5/1;CC=c.819+166C>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.819+166C>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.819+166C>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.819+166C>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.819+166C>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.819+166C>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;DM=TPO/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:0:0:0:9,14:250,428:0.00,42.84:0.00,0.00:0.00,42.84:0.00,1.00:0.00,0.00:0.00,1.00:60,60:37.2,47.6:0,0:0,0:111,100:40,50:35,33:-,NM_000547.5(TPO) c.819+166C>T:-,0.1:-,0.067893 2 1460280 rs28910572 G T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6146,T/0.3854;Gene=TPO/NM_000547.5/1;CC=c.819+226G>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.819+226G>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.819+226G>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.819+226G>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.819+226G>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.819+226G>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;DM=TPO/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:G,T:11:0:0:0:7,4:157,137:0.00,12.49:0.00,0.00:0.00,12.49:0.00,0.82:0.00,0.00:0.00,0.82:60,60:67.0,108.5:0,0:0,0:98,108:53,41:27,17:-,NM_000547.5(TPO) c.819+226G>T:-,0.41:-,0.413891 2 1460297 rs4927579 C T 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.0651,T/0.9349;PC=0.001;Gene=TPO/NM_000547.5/1;CC=c.819+243C>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.819+243C>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.819+243C>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.819+243C>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.819+243C>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.819+243C>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;DM=TPO/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:267:30.98:0.00:30.98:1.00:0.00:1.00:60:92.7:0:0:108:40:20:NM_000547.5(TPO) c.819+243C>T,NM_000547.5(TPO) c.819+243C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 1480676 rs2280131 G C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6004,C/0.3996;Gene=TPO/NM_000547.5/1;CC=c.820-182G>C;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.820-182G>C;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.820-182G>C;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.820-182G>C;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.820-182G>C;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.820-7692G>C;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;DM=TPO/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:21:0:0:11,10:308,289:29.68,0.00:29.68,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.3,14.9:0,0:0,0:31,39:115,112:26,33:NM_000547.5(TPO) c.820-182G>C,-:0.42,-:NOT_FOUND,- 2 1481155 rs2280132 G T 542 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=353;DB;DBA=NA;PAF=G/0.5919,T/0.4081;Gene=TPO/NM_000547.5/1;CC=c.1117G>T;ProtCh=p.A373S;VC=Missense;Gene=TPO/NM_001206744.1/0;CC=c.1117G>T;ProtCh=p.A373S;VC=Missense;Gene=TPO/NM_001206745.1/0;CC=c.1117G>T;ProtCh=p.A373S;VC=Missense;Gene=TPO/NM_175719.3/0;CC=c.1117G>T;ProtCh=p.A373S;VC=Missense;Gene=TPO/NM_175721.3/0;CC=c.1117G>T;ProtCh=p.A373S;VC=Missense;Gene=TPO/NM_175722.3/0;CC=c.820-7213G>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:353:248:0:0:169,184:5516,5608:0.00,542.08:0.00,282.91:0.00,259.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.1,54.8:0,0:0,0:83,70:66,78:39,33:-,NM_000547.5(TPO) c.1117G>T (p.Ala373Ser):-,0.43:-,0.406895 2 1481231 rs2175977 G C 1262 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=347;DB;DBA=NA;PAF=G/0.2897,C/0.7103;PC=0.956;Gene=TPO/NM_000547.5/1;CC=c.1193G>C;ProtCh=p.S398T;VC=Missense;Gene=TPO/NM_001206744.1/0;CC=c.1193G>C;ProtCh=p.S398T;VC=Missense;Gene=TPO/NM_001206745.1/0;CC=c.1193G>C;ProtCh=p.S398T;VC=Missense;Gene=TPO/NM_175719.3/0;CC=c.1193G>C;ProtCh=p.S398T;VC=Missense;Gene=TPO/NM_175721.3/0;CC=c.1193G>C;ProtCh=p.S398T;VC=Missense;Gene=TPO/NM_175722.3/0;CC=c.820-7137G>C;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:347:214:0:0:346,1:10984,10:1262.15,0.03:611.13,0.00:651.02,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.0,84.0:0,0:0,0:81,49:65,102:37,0:NM_000547.5(TPO) c.1193G>C (p.Ser398Thr),NM_000547.5(TPO) c.1193G>C (p.Ser398Thr):0.69,0.69:0.781629,0.781629 2 1481377 . G . . NT END=1481469;NT GT ./. 2 1481492 rs2138019 C T 444 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=279;DB;DBA=NA;PAF=C/0.5972,T/0.4028;Gene=TPO/NM_000547.5/1;CC=c.1338+116C>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1338+116C>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1338+116C>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1338+116C>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1338+116C>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.820-6876C>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:279:165:0:0:1,133,145:10,4249,4585:-0.19,0.00,444.02:-0.06,0.00,171.26:-0.13,0.00,272.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:103.0,38.3,39.6:0,0,0:0,0,0:21,79,79:130,64,67:0,35,37:-,NM_000547.5(TPO) c.1338+116C>T:-,0.42:-,NOT_FOUND 2 1481494 rs11681087 C T 378 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=278;DB;DBA=NA;PAF=C/0.8381,A/.,G/.,T/0.1619;Gene=TPO/NM_000547.5/1;CC=c.1338+118C>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1338+118C>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1338+118C>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1338+118C>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1338+118C>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.820-6874C>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:278:163:0:0:147,1,130:4792,9,3995:0.00,-0.22,378.23:0.00,-0.07,166.23:0.00,-0.15,211.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:39.7,68.0,39.4:0,0,0:0,0,0:83,40,70:62,110,73:35,0,40:-,NM_000547.5(TPO) c.1338+118C>T:-,0.17:-,NOT_FOUND 2 1481707 rs2175978 A C 762 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=212;DB;DBA=NA;PAF=NA;Gene=TPO/NM_000547.5/1;CC=c.1338+331A>C;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1338+331A>C;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1338+331A>C;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1338+331A>C;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1338+331A>C;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.820-6661A>C;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:212:127:0:0:211,1:6621,8:761.95,0.03:356.05,0.00:405.90,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,185.0:0,0:0,0:84,12:60,139:32,0:NM_000547.5(TPO) c.1338+331A>C,NM_000547.5(TPO) c.1338+331A>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 1482091 . T . . NT END=1488367;NT GT ./. 2 1482093 rs2138020 T A 153 nt VT=SNV;PN=A;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=T/0.9028,A/0.09724;Gene=TPO/NM_000547.5/1;CC=c.1338+717T>A;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1338+717T>A;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1338+717T>A;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1338+717T>A;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1338+717T>A;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.820-6275T>A;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:128:62:0:0:49,79:1667,2617:153.09,0.00:57.88,0.00:95.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,6.7:0,0:0,0:57,65:90,77:27,29:NM_000547.5(TPO) c.1338+717T>A,-:0.1,-:NOT_FOUND,- 2 1488627 . G . . NT END=1491592;NT GT ./. 2 1488668 rs6715129 T C 143 nt VT=SNV;PN=T;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.403,C/0.597;PC=0.007;Gene=TPO/NM_000547.5/1;CC=c.1597+42T>C;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1597+42T>C;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1597+42T>C;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1597+42T>C;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1597+42T>C;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1078+42T>C;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:117:46:0:0:2,49,1,65:42,1531,10,2050:1.59,142.65,-0.16,0.00:0.98,19.20,-0.07,0.00:0.61,123.45,-0.09,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:66.0,41.3,75.0,10.0:0,0,0,0:0,0,0,0:126,100,90,97:18,40,61,43:21,27,0,26:NM_000547.5(TPO) c.1597+42T>C,-:0.56,-:0.550631,- 2 1488787 rs28911468 G T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9181,T/0.08187;PC=0.124;Gene=TPO/NM_000547.5/1;CC=c.1597+161G>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1597+161G>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1597+161G>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1597+161G>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1597+161G>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1078+161G>T;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:0:0:0:13,10:410,327:0.00,30.64:0.00,0.00:0.00,30.64:0.00,1.00:0.00,0.00:0.00,1.00:60,60:30.3,67.7:0,0:0,0:88,130:62,20:30,9:-,NM_000547.5(TPO) c.1597+161G>T:-,0.09:-,NOT_FOUND 2 1488831 rs28911469 A C 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3075,C/0.6925;PC=0.002;Gene=TPO/NM_000547.5/1;CC=c.1597+205A>C;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1597+205A>C;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1597+205A>C;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1597+205A>C;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1597+205A>C;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1078+205A>C;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:340:39.21:0.00:39.21:1.00:0.00:1.00:60:39.1:0:0:122:26:12:NM_000547.5(TPO) c.1597+205A>C,NM_000547.5(TPO) c.1597+205A>C:0.68,0.68:NOT_FOUND,NOT_FOUND 2 1491381 rs6714887 C A 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4237,A/0.5763;PC=0.011;Gene=TPO/NM_000547.5/1;CC=c.1598-212C>A;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1598-212C>A;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1597+2755C>A;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1597+2755C>A;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1598-212C>A;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1079-212C>A;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:20:20:0:0:11,8,1:354,267,9:35.01,0.00,0.12:35.01,0.00,0.12:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:65.3,3.4,95.0:0,0,0:0,0,0:34,35,102:117,114,48:20,27,0:NM_000547.5(TPO) c.1598-212C>A,-:0.54,-:NOT_FOUND,- 2 1491497 rs6727192 T C 71 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.4237,C/0.5763;PC=0.056;Gene=TPO/NM_000547.5/1;CC=c.1598-96T>C;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1598-96T>C;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1597+2871T>C;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1597+2871T>C;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1598-96T>C;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1079-96T>C;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:47:0:0:23,28:756,914:71.31,0.00:67.74,0.00:3.57,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:48.0,17.4:0,1:0,0:45,33:106,117:34,25:NM_000547.5(TPO) c.1598-96T>C,-:0.54,-:NOT_FOUND,- 2 1491510 rs72230434 CA C 63 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=134;PC=0.015;Gene=TPO/NM_000547.5/1;CC=c.1598-69delA;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1598-69delA;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1597+2898delA;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1597+2898delA;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1598-69delA;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1079-69delA;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:53:50:8:23:1,23,8,21:28,745,252,699:1.38,0.00,20.79,63.20:0.62,0.00,19.62,55.33:0.76,0.00,1.17,7.87:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:38.0,32.1,19.8,29.2:0,0,0,1:0,0,0,0:40,66,19,43:82,80,131,108:0,40,6,17:-,NM_000547.5(TPO) c.1598-82delA:-,NOT_FOUND:-,NOT_FOUND 2 1491764 . G . . NT END=1497573;NT GT ./. 2 1492069 rs938327 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4237,G/0.5763;Gene=TPO/NM_000547.5/1;CC=c.1768+306A>G;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1768+306A>G;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1597+3443A>G;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1597+3443A>G;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1768+306A>G;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1249+306A>G;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:8:0:0:0:5,3:147,103:0.00,9.43:0.00,0.00:0.00,9.43:0.00,0.67:0.00,0.00:0.00,0.67:60,60:4.4,34.3:0,0:0,0:70,99:79,52:32,24:-,NM_000547.5(TPO) c.1768+306A>G:-,0.54:-,NOT_FOUND 2 1497442 rs9679267 A G 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.4221,G/0.5779;Gene=TPO/NM_000547.5/1;CC=c.1769-132A>G;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.1769-132A>G;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.1598-132A>G;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.1598-132A>G;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.1769-132A>G;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1250-132A>G;VC=Intron;DM=TPO/An_peroxidase;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:28:0:0:14,14:433,406:0.00,38.85:0.00,38.85:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.6,59.6:0,0:0,0:31,57:119,93:31,38:-,NM_000547.5(TPO) c.1769-132A>G:-,0.54:-,NOT_FOUND 2 1497803 rs1126797 C T 91 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.641,A/.,G/.,T/0.359;Gene=TPO/NM_000547.5/1;CC=c.1998C>T;ProtCh=p.D666=;VC=Silent;Gene=TPO/NM_001206744.1/0;CC=c.1998C>T;ProtCh=p.D666=;VC=Silent;Gene=TPO/NM_001206745.1/0;CC=c.1827C>T;ProtCh=p.D609=;VC=Silent;Gene=TPO/NM_175719.3/0;CC=c.1827C>T;ProtCh=p.D609=;VC=Silent;Gene=TPO/NM_175721.3/0;CC=c.1998C>T;ProtCh=p.D666=;VC=Silent;Gene=TPO/NM_175722.3/0;CC=c.1479C>T;ProtCh=p.D493=;VC=Silent;DM=TPO/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:29:0:0:43,31:1344,980:0.00,90.91:0.00,21.05:0.00,69.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,42.2:0,0:0,0:109,98:42,53:29,32:-,NM_000547.5(TPO) c.1998C>T (p.(=)):-,0.38:-,0.350531 2 1497812 . G . . NT END=1499760;NT GT ./. 2 1499899 rs732608 C T 199 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=C/0.5611,A/.,T/0.4389;Gene=TPO/NM_000547.5/1;CC=c.2145C>T;ProtCh=p.P715=;VC=Silent;Gene=TPO/NM_001206744.1/0;CC=c.2145C>T;ProtCh=p.P715=;VC=Silent;Gene=TPO/NM_001206745.1/0;CC=c.1974C>T;ProtCh=p.P658=;VC=Silent;Gene=TPO/NM_175719.3/0;CC=c.1974C>T;ProtCh=p.P658=;VC=Silent;Gene=TPO/NM_175721.3/0;CC=c.2145C>T;ProtCh=p.P715=;VC=Silent;Gene=TPO/NM_175722.3/0;CC=c.1626C>T;ProtCh=p.P542=;VC=Silent;DM=TPO/Sushi GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:149:88:0:0:1,84,64:25,2604,2126:0.63,0.00,199.23:-0.11,0.00,73.65:0.74,0.00,125.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:55.0,4.7,63.9:0,0,0:0,0,0:150,85,82:1,62,66:0,36,33:-,NM_000547.5(TPO) c.2145C>T (p.(=)):-,0.42:-,0.41304 2 1499927 rs732609 A C 161 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=A/0.5016,C/0.4984,G/.;PC=0.985;Gene=TPO/NM_000547.5/1;CC=c.2173A>C;ProtCh=p.T725P;VC=Missense;Gene=TPO/NM_001206744.1/0;CC=c.2173A>C;ProtCh=p.T725P;VC=Missense;Gene=TPO/NM_001206745.1/0;CC=c.2002A>C;ProtCh=p.T668P;VC=Missense;Gene=TPO/NM_175719.3/0;CC=c.2002A>C;ProtCh=p.T668P;VC=Missense;Gene=TPO/NM_175721.3/0;CC=c.2173A>C;ProtCh=p.T725P;VC=Missense;Gene=TPO/NM_175722.3/0;CC=c.1654A>C;ProtCh=p.T552P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:135:81:0:0:78,57:2489,1734:0.00,160.51:0.00,58.66:0.00,101.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,66.7:0,0:0,0:90,94:55,49:34,30:-,NM_000547.5(TPO) c.2173A>C (p.Thr725Pro):-,0.47:-,0.470321 2 1499970 . G . . NT END=1500366;NT GT ./. 2 1500538 . G . . NT END=1507719;NT GT ./. 2 1500665 rs867983 C T 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.4808,T/0.5192;Gene=TPO/NM_000547.5/1;CC=c.2386+128C>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2386+128C>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2215+128C>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2215+128C>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2386+128C>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.1867+128C>T;VC=Intron;DM=TPO/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:0:0:0:16,14:542,427:0.00,40.35:0.00,0.00:0.00,40.35:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,35.1:0,0:0,0:105,135:45,14:24,10:-,NM_000547.5(TPO) c.2386+128C>T:-,0.49:-,NOT_FOUND 2 1507852 . G . . NT END=1516162;NT GT ./. 2 1515905 rs11211655 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8994,G/0.1006;PC=0.042;Gene=TPO/NM_000547.5/1;CC=c.2519-4750A>G;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2519-4750A>G;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2348-4750A>G;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2348-4750A>G;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2387-4750A>G;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.2000-4750A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:4:0:0:1,3:34,83:0.00,8.75:0.00,8.75:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,93.0:0,0:0,0:65,76:86,75:0,59:-,NM_000547.5(TPO) c.2519-4750A>G:-,0.11:-,NOT_FOUND 2 1515951 rs11683140 G A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9107,A/0.08926;PC=0.029;Gene=TPO/NM_000547.5/1;CC=c.2519-4704G>A;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2519-4704G>A;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2348-4704G>A;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2348-4704G>A;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2387-4704G>A;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.2000-4704G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,G:6:5:0:0:5,1:133,27:14.47,0.00:12.08,0.00:2.39,0.00:0.99,0.00:1.00,0.00:0.89,0.00:60,60:45.4,0.0:0,0:0,0:35,111:115,40:21,0:NM_000547.5(TPO) c.2519-4704G>A,-:0.09,-:NOT_FOUND,- 2 1516247 . C . . NT END=1520654;NT GT ./. 2 1520676 rs1126799 T C 85 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.3361,C/0.6639;PC=0.165;Gene=TPO/NM_000547.5/1;CC=c.2540T>C;ProtCh=p.V847A;VC=Missense;Gene=TPO/NM_001206744.1/0;CC=c.2540T>C;ProtCh=p.V847A;VC=Missense;Gene=TPO/NM_001206745.1/0;CC=c.2369T>C;ProtCh=p.V790A;VC=Missense;Gene=TPO/NM_175719.3/0;CC=c.2369T>C;ProtCh=p.V790A;VC=Missense;Gene=TPO/NM_175721.3/0;CC=c.2408T>C;ProtCh=p.V803A;VC=Missense;Gene=TPO/NM_175722.3/0;CC=c.2021T>C;ProtCh=p.V674A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:82:61:0:0:1,29,52:11,946,1724:-0.12,85.49,0.00:-0.14,41.13,0.00:0.02,44.36,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:52.0,37.3,8.4:0,0,0:0,0,0:96,80,73:55,68,73:0,24,25:NM_000547.5(TPO) c.2540T>C (p.Val847Ala),-:0.61,-:0.613255,- 2 1520755 . G . . NT END=1544365;NT GT ./. 2 1544147 rs12619427 A T 102 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5096,T/0.4904;PC=0.011;Gene=TPO/NM_000547.5/1;CC=c.2619-219A>T;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2619-219A>T;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2448-219A>T;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2448-219A>T;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2487-219A>T;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.2100-219A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:28:0:0:28:883:101.64:101.64:0.00:1.00:1.00:0.00:60:36.0:0:0:24:125:19:NM_000547.5(TPO) c.2619-219A>T,NM_000547.5(TPO) c.2619-219A>T:0.47,0.47:NOT_FOUND,NOT_FOUND 2 1544196 rs397802081 A AAAT 178 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.5092,AAAT/0.4908;DB;DBA=NA;PAF=A/0.5092,AAAT/0.4908;DB;DBA=NA;PAF=A/0.5092,AAAT/0.4908;NP=763;PC=0.024;Gene=TPO/NM_000547.5/1;CC=c.2619-168_2619-166dupATA;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2619-168_2619-166dupATA;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2448-168_2448-166dupATA;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2448-168_2448-166dupATA;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2487-168_2487-166dupATA;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.2100-168_2100-166dupATA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T,AAAT:51:48:50:0:1,50:22,1549:1.02,178.29:0.00,160.35:1.02,17.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,21.5:0,0:0,0:1,45:150,106:0,21:NM_000547.5(TPO) c.2619-170_2619-169insAAT,NM_000547.5(TPO) c.2619-170_2619-169insAAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 1544617 rs12615819 G A 297 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=229;DB;DBA=NA;PAF=G/0.6621,A/0.3379;Gene=TPO/NM_000547.5/1;CC=c.2748+122G>A;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2748+122G>A;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2577+122G>A;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2577+122G>A;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2616+122G>A;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.2229+122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:229:140:0:0:102,1,126:3163,26,3904:296.82,0.54,0.00:132.39,-0.11,0.00:164.43,0.65,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.3,169.0,7.6:0,0,0:0,0,0:85,144,74:65,-1,74:29,0,45:NM_000547.5(TPO) c.2748+122G>A,-:0.34,-:NOT_FOUND,- 2 1545027 . c . . NT END=1546192;NT GT ./. 2 1545110 rs4927632 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4375,A/0.5625;PC=0.001;Gene=TPO/NM_000547.5/1;CC=c.2748+615G>A;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2748+615G>A;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2577+615G>A;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2577+615G>A;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2616+615G>A;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.2229+615G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:11,7:296,223:29.54,0.00:0.00,0.00:29.54,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.5,3.4:0,0:0,0:107,133:44,18:33,12:NM_000547.5(TPO) c.2748+615G>A,-:0.58,-:NOT_FOUND,- 2 1545134 rs66592009 G GT 17 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7913,GT/0.2087;DB;DBA=NA;PAF=G/0.7913,GT/0.2087;NP=74;PC=0.002;Gene=TPO/NM_000547.5/1;CC=c.2748+652_2748+653insT;VC=Intron;Gene=TPO/NM_001206744.1/0;CC=c.2748+652_2748+653insT;VC=Intron;Gene=TPO/NM_001206745.1/0;CC=c.2577+652_2577+653insT;VC=Intron;Gene=TPO/NM_175719.3/0;CC=c.2577+652_2577+653insT;VC=Intron;Gene=TPO/NM_175721.3/0;CC=c.2616+652_2616+653insT;VC=Intron;Gene=TPO/NM_175722.3/0;CC=c.2229+652_2229+653insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:G,GT:11:0:6:0:5,6:146,178:0.00,17.38:0.00,0.00:0.00,17.38:0.00,0.98:0.00,0.00:0.00,0.98:60,60:18.0,83.0:0,0:0,0:83,99:68,51:54,28:-,NM_000547.5(TPO) c.2748+639_2748+640insT:-,NOT_FOUND:-,NOT_FOUND 2 1546365 . A . . NT END=1637975;NT GT ./. 2 1546531 rs2280127 C T 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6873,T/0.3127 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:7,9:240,267:0.00,26.23:0.00,0.00:0.00,26.23:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.4,41.2:0,0:0,0:121,117:30,33:12,14:-,chr2 g.1546530C>T (intergenic):-,0.28:-,NOT_FOUND 2 1607670 . GCACACA G 7 idl,rn VT=DEL;SST=Single;DP=4;NP=3;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G:2:4:0:4:2:132:6.95:3.48:3.48:0.51:0.51:0.79:60:6.5:2:0:35:111:5:chr2 g.1607671_1607676delCACACA (intergenic),chr2 g.1607671_1607676delCACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 1638096 . C . . NT END=1639179;NT GT ./. 2 1639294 . C . . NT END=1642617;NT GT ./. 2 1642369 rs6732413 A C 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.07688,C/0.9231;Gene=PXDN/NM_012293.2/1;CC=c.4206+249T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:354:40.65:40.65:0.00:1.00:1.00:0.00:60:57.2:0:0:82:69:23:NM_012293.1(PXDN) c.4206+249T>G,NM_012293.1(PXDN) c.4206+249T>G:0.93,0.93:NOT_FOUND,NOT_FOUND 2 1642453 rs6729173 T C 69 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.1246,C/0.8754;Gene=PXDN/NM_012293.2/1;CC=c.4206+165A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:596:68.62:68.62:0.00:1.00:1.00:0.00:60:121.8:0:0:41:110:26:NM_012293.1(PXDN) c.4206+165A>G,NM_012293.1(PXDN) c.4206+165A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 1642537 rs6729142 T C 187 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.1218,C/0.8782;Gene=PXDN/NM_012293.2/1;CC=c.4206+81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:C:50:46:0:0:50:1632:186.96:151.03:35.93:1.00:1.00:1.00:60:127.4:0:0:46:101:32:NM_012293.1(PXDN) c.4206+81A>G,NM_012293.1(PXDN) c.4206+81A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 1642539 rs6742040 C T 179 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.1256,T/0.8744;Gene=PXDN/NM_012293.2/1;CC=c.4206+79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:T:52:48:0:0:52:1548:179.41:142.93:36.48:1.00:1.00:1.00:60:122.5:0:0:42:108:26:NM_012293.1(PXDN) c.4206+79G>A,NM_012293.1(PXDN) c.4206+79G>A:0.89,0.89:NOT_FOUND,NOT_FOUND 2 1642544 rs116214231 C T 75 nt VT=SNV;PN=A;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.9319,T/0.06809;Gene=PXDN/NM_012293.2/1;CC=c.4206+74G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:47:0:0:29,24:957,797:0.00,75.30:0.00,65.21:0.00,10.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:99.6,148.9:0,0:0,0:46,64:105,86:30,28:-,NM_012293.1(PXDN) c.4206+74G>A:-,0.06:-,NOT_FOUND 2 1642545 rs6742039 C G 214 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.1218,G/0.8782;Gene=PXDN/NM_012293.2/1;CC=c.4206+73G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G:56:49:0:0:56:1877:214.40:162.50:51.90:1.00:1.00:1.00:60:117.4:0:0:46:105:26:NM_012293.1(PXDN) c.4206+73G>C,NM_012293.1(PXDN) c.4206+73G>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 1642751 . C . . NT END=1643073;NT GT ./. 2 1642853 rs74164527 GC G 7 end,nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=GC/0.9627,G/0.03734;NP=413;Gene=PXDN/NM_012293.2/1;CC=c.4074-104delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:GC,G:28:16:0:3:25,3:816,99:0.00,7.19:0.00,3.50:0.00,3.70:0.00,0.44:0.00,0.74:0.00,0.71:60,60:5.9,0.0:0,0:0,0:118,146:1,5:6,0:-,NM_012293.1(PXDN) c.4074-104delG:-,0.37:-,NOT_FOUND 2 1643195 . C . . NT END=1647139;NT GT ./. 2 1643456 rs7575438 T C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6637,C/0.3363;PC=0.002;Gene=PXDN/NM_012293.2/1;CC=c.3953-262A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:8:0:0:0:3,5:102,161:9.33,0.00:0.00,0.00:9.33,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:34.0,28.4:0,0:0,0:69,95:82,55:20,43:NM_012293.1(PXDN) c.3953-262A>G,-:0.34,-:NOT_FOUND,- 2 1647171 rs6730800 T C 530 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=T/0.09225,A/.,C/0.9077;PC=0.960;Gene=PXDN/NM_012293.2/1;CC=c.3921A>G;ProtCh=p.V1307=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:146:124:0:0:144,1,1:4643,5,29:530.09,0.01,0.00:354.90,0.01,0.00:175.19,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.9,128.0,0.0:0,0,0:0,0,0:51,26,16:96,125,133:29,0,0:NM_012293.1(PXDN) c.3921A>G (p.(=)),NM_012293.1(PXDN) c.3921A>G (p.(=)):0.91,0.91:0.863442,0.863442 2 1647349 . C . . NT END=1648389;NT GT ./. 2 1648525 . C . . NT END=1651943;NT GT ./. 2 1648570 rs13015020 G A 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.9912,A/0.008786;Gene=PXDN/NM_012293.2/1;CC=c.3609-46C>T;VC=Intron;DM=PXDN/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:20:0:0:25,34:763,1054:70.79,0.00:22.98,0.00:47.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,8.4:0,0:0,0:115,106:35,43:24,20:NM_012293.1(PXDN) c.3609-46C>T,-:0.02,-:0.02185,- 2 1648781 rs12467846 G C 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.08427,C/0.9157;Gene=PXDN/NM_012293.2/1;CC=c.3609-257C>G;VC=Intron;DM=PXDN/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:257:29.47:0.00:29.47:1.00:0.00:1.00:60:37.1:0:0:82:68:18:NM_012293.1(PXDN) c.3609-257C>G,NM_012293.1(PXDN) c.3609-257C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 1651842 rs11685976 C A 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7552,A/0.2448;PC=0.001;Gene=PXDN/NM_012293.2/1;CC=c.3608+102G>T;VC=Intron;DM=PXDN/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:31:31:0:0:19,12:593,407:59.37,0.00:55.81,0.00:3.56,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:46.6,2.5:0,0:0,0:45,62:106,88:31,36:NM_012293.1(PXDN) c.3608+102G>T,-:0.25,-:NOT_FOUND,- 2 1652660 rs3811613 G A 248 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.7552,A/0.2448,C/.;PC=0.930;Gene=PXDN/NM_012293.2/1;CC=c.2892C>T;ProtCh=p.N964=;VC=Silent;DM=PXDN/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:149:114:0:0:81,67,1:2537,2002,11:248.06,0.00,-0.11:147.55,0.00,-0.03:100.52,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,15.7,125.0:0,0,0:0,0,0:72,77,100:75,72,49:41,37,0:NM_012293.1(PXDN) c.2892C>T (p.(=)),-:0.25,-:0.250239,- 2 1652822 rs1863135 T G 482 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.0645,A/.,C/.,G/0.9355;PC=0.842;Gene=PXDN/NM_012293.2/1;CC=c.2730A>C;ProtCh=p.I910=;VC=Silent;DM=PXDN/An_peroxidase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:132:67:0:0:132:4192:481.88:181.74:300.14:1.00:1.00:1.00:60:40.1:0:0:77:71:32:NM_012293.1(PXDN) c.2730A>C (p.(=)),NM_012293.1(PXDN) c.2730A>C (p.(=)):0.94,0.94:0.899146,0.899146 2 1653448 . C . . NT END=1657399;NT GT ./. 2 1657558 . C . . NT END=1658171;NT GT ./. 2 1658281 . C . . NT END=1664652;NT GT ./. 2 1658550 rs1477496 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1544,T/0.8456;Gene=PXDN/NM_012293.2/1;CC=c.1838-270G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:76.5:0:0:109:41:14:NM_012293.1(PXDN) c.1838-270G>A,NM_012293.1(PXDN) c.1838-270G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 2 1664508 rs2241456 G C 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6232,C/0.3768;PC=0.006;Gene=PXDN/NM_012293.2/1;CC=c.1837+145C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:392:45.76:45.76:0.00:1.00:1.00:0.00:60:41.6:0:0:57:94:34:NM_012293.1(PXDN) c.1837+145C>G,NM_012293.1(PXDN) c.1837+145C>G:0.4,0.4:NOT_FOUND,NOT_FOUND 2 1664654 rs17841813 A G 307 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.1891,G/0.8109;PC=0.027;Gene=PXDN/NM_012293.2/1;CC=c.1836T>C;ProtCh=p.N612=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:71:0:0:83:2672:306.73:197.14:109.59:1.00:1.00:1.00:60:36.2:0:0:61:85:32:NM_012293.1(PXDN) c.1836T>C (p.(=)),NM_012293.1(PXDN) c.1836T>C (p.(=)):0.8,0.8:0.713489,0.713489 2 1664810 . C . . NT END=1665843;NT GT ./. 2 1665957 . C . . NT END=1667376;NT GT ./. 2 1667310 rs12475392 G A 197 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.1472,A/0.8528;Gene=PXDN/NM_012293.2/1;CC=c.1567+67C>T;VC=Intron;DM=PXDN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:A:54:51:0:0:54:1719:197.49:174.63:22.86:1.00:1.00:1.00:60:42.4:0:0:39:108:24:NM_012293.1(PXDN) c.1567+67C>T,NM_012293.1(PXDN) c.1567+67C>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 1667536 . C . . NT END=1668729;NT GT ./. 2 1668566 rs890055 A G 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1426,C/.,G/0.8574;Gene=PXDN/NM_012293.2/1;CC=c.1408+164T>C;VC=Intron;DM=PXDN/I-set;DM=PXDN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:171:19.93:19.93:0.00:1.00:1.00:0.00:60:57.3:0:0:36:114:19:NM_012293.1(PXDN) c.1408+164T>C,NM_012293.1(PXDN) c.1408+164T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 1668847 . C . . NT END=1669985;NT GT ./. 2 1670259 . C . . NT END=1677414;NT GT ./. 2 1677585 . C . . NT END=1680698;NT GT ./. 2 1680817 . C . . NT END=1683964;NT GT ./. 2 1682860 rs111613941 A ATG 14 idl,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=33;NP=4;PC=0.142;Gene=PXDN/NM_012293.2/1;CC=c.730+1104_730+1105insCA;VC=Intron;DM=PXDN/I-set;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,ATG:5:5:6:0:1,4:23,198:0.00,13.77:0.00,5.07:0.00,8.70:0.00,0.90:0.00,0.98:0.00,0.99:60,60:35.0,44.8:0,2:0,0:24,64:104,55:0,28:-,NM_012293.1(PXDN) c.730+1104_730+1105insCA:-,NOT_FOUND:-,NOT_FOUND 2 1683738 rs62638001 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7105,A/0.2895;PC=0.977;Gene=PXDN/NM_012293.2/1;CC=c.730+227C>T;VC=Intron;DM=PXDN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:8:0:0:9:246:28.84:24.96:3.88:1.00:1.00:1.00:60:62.6:0:0:30:121:22:NM_012293.1(PXDN) c.730+227C>T,NM_012293.1(PXDN) c.730+227C>T:0.29,0.29:NOT_FOUND,NOT_FOUND 2 1684135 . C . . NT END=1687427;NT GT ./. 2 1687500 . C . . NT END=1687851;NT GT ./. 2 1687924 . C . . NT END=1691403;NT GT ./. 2 1691476 . C . . NT END=1695699;NT GT ./. 2 1695772 . C . . NT END=1696834;NT GT ./. 2 1696907 . C . . NT END=1748027;NT GT ./. 2 1723606 rs59596874 T TTG 6 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9311,C/0.06889;DB;DBA=NA;PAF=NA;PC=0.005;Gene=PXDN/NM_012293.2/1;CC=c.200+24421_200+24422insCA;VC=Intron;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:T,TTG,D:6:4:2:2:2,2,2:56,68,9:0.00,6.45,0.43:0.00,6.45,-0.35:0.00,0.00,0.78:0.00,0.42,0.00:0.00,0.81,0.00:0.00,0.63,0.00:60,60,6:95.0,51.0,52.5:0,0,0:0,0,0:89,43,55:61,106,71:58,4,50:-,NM_012293.1(PXDN) c.200+24421_200+24422insCA:-,NOT_FOUND:-,NOT_FOUND 2 1723670 . C G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;PC=0.025;Gene=PXDN/NM_012293.2/1;CC=c.200+24358G>C;VC=Intron;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,G:4:4:0:0:1,3:36,67:0.00,7.13:0.00,4.74:0.00,2.39:0.00,0.85:0.00,0.85:0.00,0.99:6,60:0.0,106.3:0,0:0,0:67,97:34,54:0,8:-,NM_012293.1(PXDN) c.200+24358G>C:-,NOT_FOUND:-,NOT_FOUND 2 1724490 . TCTCTCTCA T 15 nt VT=DEL;SST=Single;DP=5;NP=181;PC=0.001;Gene=PXDN/NM_012293.2/1;CC=c.200+23530_200+23537delTGAGAGAG;VC=Intron;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:5:4:172:15.22:7.66:7.56:0.96:1.00:0.99:60:0.0:1:0:45:101:23:NM_012293.1(PXDN) c.200+23530_200+23537delTGAGAGAG,NM_012293.1(PXDN) c.200+23530_200+23537delTGAGAGAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 1747797 rs62116429 T G 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5393,A/.,G/0.4607;Gene=PXDN/NM_012293.2/1;CC=c.200+231A>C;VC=Intron;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8;DM=PXDN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:140:16.36:16.36:0.00:1.00:1.00:0.00:60:56.6:0:0:38:112:7:NM_012293.1(PXDN) c.200+231A>C,NM_012293.1(PXDN) c.200+231A>C:0.48,0.48:NOT_FOUND,NOT_FOUND 2 1748117 rs140134102 C G 173 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.992,G/0.007987;PC=0.988;Gene=PXDN/NM_012293.2/1;CC=c.111G>C;ProtCh=p.P37=;VC=Silent;DM=PXDN/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:109:91:0:0:56,53:1760,1806:0.00,173.14:0.00,115.40:0.00,57.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,41.2:0,0:0,0:60,74:89,77:32,45:-,NM_012293.1(PXDN) c.111G>C (p.(=)):-,0.03:-,0.00713 2 1748228 . G . . NT END=1795638;NT GT ./. 2 1795780 . C . . NT END=1796092;NT GT ./. 2 1796237 . C . . NT END=1805467;NT GT ./. 2 1805572 . C . . NT END=1812847;NT GT ./. 2 1805748 rs2288180 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3918,T/0.6082;Gene=MYT1L/NM_001303052.1/1;CC=c.3173-177G>A;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.3167-177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:6:0:0:0:3,3:90,103:0.00,9.93:0.00,0.00:0.00,9.93:0.00,0.73:0.00,0.00:0.00,0.73:60,60:18.0,34.3:0,0:0,0:142,102:9,46:3,28:-,NM_015025.2(MYT1L) c.3167-177G>A:-,0.58:-,NOT_FOUND 2 1812940 . C . . NT END=1842920;NT GT ./. 2 1813057 rs12988270 G T 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8534,T/0.1466;Gene=MYT1L/NM_001303052.1/1;CC=c.3081-118C>A;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.3075-118C>A;VC=Intron;DM=MYT1L/zf-C2HC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:G,T:16:1:0:0:11,5:324,157:0.00,13.78:0.00,-0.08:0.00,13.86:0.00,0.88:0.00,0.54:0.00,0.88:60,60:13.8,35.2:0,0:0,0:103,102:48,49:20,1:-,NM_015025.2(MYT1L) c.3075-118C>A:-,0.18:-,NOT_FOUND 2 1813194 rs78217895 G GA 10 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5391,GA/0.4609;DB;DBA=NA;PAF=NA;NP=96;Gene=MYT1L/NM_001303052.1/1;CC=c.3081-256_3081-255insT;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.3075-256_3075-255insT;VC=Intron;DM=MYT1L/zf-C2HC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G,GA:10:0:4:0:1,5,4:31,121,111:2.35,0.00,10.31:0.00,0.00,0.00:2.35,0.00,10.31:0.00,0.00,0.84:0.00,0.00,0.00:0.00,0.00,0.84:60,60,60:63.0,14.4,24.0:0,0,0:0,0,0:3,117,76:148,34,74:0,25,22:-,NM_015025.2(MYT1L) c.3075-256_3075-255insT:-,0.45:-,NOT_FOUND 2 1843143 . C . . NT END=1844531;NT GT ./. 2 1844616 . C . . NT END=1855412;NT GT ./. 2 1844667 . GCTTT G 6 nt VT=DEL;SST=Single;DP=22;PC=0.002;Gene=MYT1L/NM_001303052.1/1;CC=c.2775-56_2775-53delAAAG;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.2769-56_2769-53delAAAG;VC=Intron;DM=MYT1L/zf-C2HC;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:GCTTT,G:22:8:0:3:19,3:602,87:0.00,6.33:0.00,1.20:0.00,5.13:0.00,0.48:0.00,0.64:0.00,0.90:60,60:17.5,3.7:0,0:0,0:110,117:29,27:25,6:-,NM_015025.2(MYT1L) c.2769-56_2769-53delAAAG:-,NOT_FOUND:-,NOT_FOUND 2 1844676 rs7425542 C T 8 idl;end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.362,T/0.638;NP=37;PC=0.006;Gene=MYT1L/NM_001303052.1/1;CC=c.2775-61G>A;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.2769-61G>A;VC=Intron;DM=MYT1L/zf-C2HC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:C,T,I,D:16:5:1:8:9,3,1,3:248,95,34,79:0.00,7.94,2.42,6.35:0.00,2.81,1.29,-0.13:0.00,5.13,1.13,6.49:0.00,0.54,0.00,0.00:0.00,0.63,0.00,0.00:0.00,0.91,0.00,0.00:60,60,60,60:17.0,36.0,21.0,5.7:3,0,0,0:0,0,0,0:103,149,105,81:47,2,44,70:32,0,0,26:-,NM_015025.2(MYT1L) c.2769-61G>A:-,NOT_FOUND:-,NOT_FOUND 2 1855476 . C . . NT END=1890310;NT GT ./. 2 1855567 rs4553849 C A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9399,A/0.0601;Gene=MYT1L/NM_001303052.1/1;CC=c.2712-92G>T;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.2706-92G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:5:0:0:9,8:301,265:29.29,0.00:6.31,0.00:22.98,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:37.0,0.0:0,0:0,0:107,104:44,46:22,26:NM_015025.2(MYT1L) c.2706-92G>T,-:0.06,-:NOT_FOUND,- 2 1855686 rs4286314 C A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4748,A/0.5252;Gene=MYT1L/NM_001303052.1/1;CC=c.2712-211G>T;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.2706-211G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:138:16.15:0.00:16.15:1.00:0.00:1.00:60:66.2:0:0:102:48:31:NM_015025.2(MYT1L) c.2706-211G>T,NM_015025.2(MYT1L) c.2706-211G>T:0.51,0.51:NOT_FOUND,NOT_FOUND 2 1855717 rs7421372 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5541,G/0.4459;Gene=MYT1L/NM_001303052.1/1;CC=c.2712-242T>C;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.2706-242T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:66.2:0:0:117:32:20:NM_015025.2(MYT1L) c.2706-242T>C,NM_015025.2(MYT1L) c.2706-242T>C:0.45,0.45:NOT_FOUND,NOT_FOUND 2 1890380 . C . . NT END=1891259;NT GT ./. 2 1891382 . C . . NT END=1893012;NT GT ./. 2 1893250 . C . . NT END=1895808;NT GT ./. 2 1896060 . C . . NT END=1906851;NT GT ./. 2 1896278 . CTT C 9 idl,rn VT=DEL;SST=Single;DP=20;PC=0.002;Gene=MYT1L/NM_001303052.1/1;CC=c.2033-221_2033-220delAA;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.2027-221_2027-220delAA;VC=Intron;DM=MYT1L/MYT1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:CTT,C:17:1:0:7:13,4:315,210:0.00,8.87:0.00,-0.05:0.00,8.92:0.00,0.71:0.00,0.47:0.00,0.71:60,60:26.3,55.5:0,3:0,0:130,78:12,73:15,31:-,NM_015025.2(MYT1L) c.2027-221_2027-220delAA:-,NOT_FOUND:-,NOT_FOUND 2 1907067 . C . . NT END=1914011;NT GT ./. 2 1914120 . C . . NT END=1915791;NT GT ./. 2 1915883 . C . . NT END=1920976;NT GT ./. 2 1921112 . C . . NT END=1926057;NT GT ./. 2 1926437 rs1529667 G T 636 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=G/0.008786,T/0.9912;PC=0.097;Gene=MYT1L/NM_001303052.1/1;CC=c.1104C>A;ProtCh=p.P368=;VC=Silent;Gene=MYT1L/NM_015025.3/0;CC=c.1104C>A;ProtCh=p.P368=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:163:113:0:0:163:5583:636.04:353.83:282.21:1.00:1.00:1.00:60:42.2:0:0:75:73:38:NM_015025.2(MYT1L) c.1104C>A (p.(=)),NM_015025.2(MYT1L) c.1104C>A (p.(=)):0.99,0.99:0.976929,0.976929 2 1927036 . C . . NT END=1946753;NT GT ./. 2 1947107 . C . . NT END=1982936;NT GT ./. 2 1982877 rs2304007 T G 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7602,G/0.2398;Gene=MYT1L/NM_001303052.1/1;CC=c.152+60A>C;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.152+60A>C;VC=Intron;DM=MYT1L/zf-C2HC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:22:21:0:0:14,8:402,247:40.51,0.00:34.50,0.00:6.01,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:34.1,9.4:0,0:0,0:58,29:93,120:40,12:NM_015025.2(MYT1L) c.152+60A>C,-:0.23,-:0.219886,- 2 1983000 . C . . NT END=1983292;NT GT ./. 2 1983327 . C . . NT END=1983494;NT GT ./. 2 1983374 rs2304008 A C 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.5359,C/0.4641,T/.;Gene=MYT1L/NM_001303052.1/1;CC=c.56-48T>G;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.56-48T>G;VC=Intron;DM=MYT1L/zf-C2HC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:39:26:0:0:20,19:610,604:0.00,57.73:0.00,34.73:0.00,23.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,59.8:0,0:0,0:68,108:76,43:31,21:-,NM_015025.2(MYT1L) c.56-48T>G:-,0.44:-,0.405255 2 1983395 rs2304009 C T 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.8297,T/0.1703;PC=0.164;Gene=MYT1L/NM_001303052.1/1;CC=c.56-69G>A;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.56-69G>A;VC=Intron;DM=MYT1L/zf-C2HC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:23:0:0:21,20:653,610:0.00,58.22:0.00,27.24:0.00,30.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,59.0:0,0:0,0:65,109:86,41:26,37:-,NM_015025.2(MYT1L) c.56-69G>A:-,0.18:-,0.154621 2 1983550 . C . . NT END=3193104;NT GT ./. 2 1983619 rs7561518 A G 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.5248,G/0.4752;PC=0.001;Gene=MYT1L/NM_001303052.1/1;CC=c.1-70T>C;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.1-70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:4:0:0:13,12:348,361:0.00,34.26:0.00,4.43:0.00,29.83:0.00,1.00:0.00,0.93:0.00,1.00:60,60:21.1,30.9:0,0:0,0:101,100:50,49:21,24:-,NM_015025.2(MYT1L) c.1-70T>C:-,0.46:-,0.436487 2 2162360 rs73913232 T C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.749,C/0.251;Gene=MYT1L/NM_001303052.1/1;CC=c.-304+14284A>G;VC=Intron;Gene=MYT1L/NM_015025.3/0;CC=c.-304+14284A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:71,66:6.85,0.00:7.15,0.00:-0.30,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:63.5,0.0:0,0:0,0:76,69:74,62:49,18:NM_015025.2(MYT1L) c.-304+14284A>G,-:0.23,-:NOT_FOUND,- 2 2488477 rs375626525 A AGT 19 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=3;NP=4;NP=66;NP=8;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,AGT:9:7:6:0:3,6:75,190:0.00,19.38:0.00,7.80:0.00,11.58:0.00,0.99:0.00,1.00:0.00,1.00:60,60:20.7,22.8:0,0:0,0:46,49:56,100:30,8:-,chr2 g.2488477_2488478insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 2798368 . G GTA 6 nt VT=INS;SST=Single;DP=4;NP=6;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GTA:4:4:2:0:2,2:72,67:0.00,6.45:0.00,4.96:0.00,1.49:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,32.5:1,0:0,0:66,26:74,94:23,9:-,chr2 g.2798368_2798369insTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 3061771 rs139708374 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.612,A/0.388;NP=9;Gene=LINC01250/NR_110228.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:5:5:0:0:4,1:121,34:12.92,0.00:9.49,0.00:3.43,0.00:0.96,0.00:0.96,0.00:0.99,0.00:60,3:50.5,34.0:0,0:0,0:56,39:94,20:12,0:chr2 g.3061770G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 3193280 . C . . NT END=3196184;NT GT ./. 2 3196040 rs2242084 A G 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2183,G/0.7817;Gene=TSSC1/NM_003310.2/1;CC=c.989+145T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:28:0:0:18,10:550,306:0.00,27.45:0.00,27.54:0.00,-0.10:0.00,1.00:0.00,1.00:0.00,0.57:60,60:5.8,39.8:0,0:0,0:62,75:87,76:26,25:-,NM_003310.2(TSSC1) c.989+145T>C:-,0.78:-,NOT_FOUND 2 3196353 . C . . NT END=3197769;NT GT ./. 2 3196471 rs73129592 A G 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.9683,G/0.03175;Gene=TSSC1/NM_003310.2/1;CC=c.822-119T>C;VC=Intron;DM=TSSC1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:1:0:0:18,16:521,540:0.00,51.45:0.00,1.87:0.00,49.57:0.00,1.00:0.00,0.65:0.00,1.00:60,60:15.9,40.2:0,0:0,0:110,111:41,39:36,25:-,NM_003310.2(TSSC1) c.822-119T>C:-,0.04:-,NOT_FOUND 2 3196641 rs5828967 GA G 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GA/0.2151,G/0.7849;DB;DBA=NA;PAF=GA/0.2151,G/0.7849;DB;DBA=NA;PAF=GA/0.2151,G/0.7849;NP=183;Gene=TSSC1/NM_003310.2/1;CC=c.822-290delT;VC=Intron;DM=TSSC1/WD40;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:GA,G:5:0:0:6:1,4:16,122:0.00,9.62:0.00,0.00:0.00,9.62:0.00,0.93:0.00,0.00:0.00,0.93:60,60:22.0,58.8:0,1:0,0:147,118:2,33:0,13:-,NM_003310.2(TSSC1) c.822-290delT:-,NOT_FOUND:-,NOT_FOUND 2 3197938 . C . . NT END=3200651;NT GT ./. 2 3198175 rs2305491 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2386,T/0.7614;Gene=TSSC1/NM_003310.2/1;CC=c.654-238G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:8:0:0:0:3,5:66,169:0.00,17.00:0.00,0.00:0.00,17.00:0.00,0.97:0.00,0.00:0.00,0.97:60,60:28.3,35.4:0,0:0,0:131,128:20,23:17,9:-,NM_003310.2(TSSC1) c.654-238G>A:-,0.77:-,NOT_FOUND 2 3200391 rs4854104 A C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1845,C/0.8155;Gene=TSSC1/NM_003310.2/1;CC=c.653+261T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C:14:14:0:0:11,3:321,104:0.00,8.68:0.00,8.68:0.00,0.00:0.00,0.56:0.00,0.56:0.00,0.00:60,60:10.2,37.7:0,0:0,0:44,80:106,71:28,7:-,NM_003310.2(TSSC1) c.653+261T>G:-,0.82:-,NOT_FOUND 2 3200789 . C . . NT END=3217919;NT GT ./. 2 3200948 rs1037467 C A 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2151,A/0.7849;PC=0.011;Gene=TSSC1/NM_003310.2/1;CC=c.517-160G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,C:11:0:0:0:5,6:164,189:15.49,0.00:0.00,0.00:15.49,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:35.2,25.3:0,0:0,0:111,114:40,37:14,26:NM_003310.2(TSSC1) c.517-160G>T,-:0.78,-:NOT_FOUND,- 2 3217777 rs11127386 A C 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.08886,C/0.9111;Gene=TSSC1/NM_003310.2/1;CC=c.516+143T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C:14:14:0:0:6,8:192,239:0.00,23.55:0.00,23.55:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.8,88.6:0,0:0,0:86,70:64,76:49,39:-,NM_003310.2(TSSC1) c.516+143T>G:-,0.92:-,NOT_FOUND 2 3217794 rs10865535 T C 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.08886,C/0.9111;PC=0.001;Gene=TSSC1/NM_003310.2/1;CC=c.516+126A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:9,6:274,206:27.31,0.00:27.31,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:90.1,16.0:0,0:0,0:44,40:76,110:41,28:NM_003310.2(TSSC1) c.516+126A>G,-:0.92,-:NOT_FOUND,- 2 3217908 rs11682452 G C 100 nt VT=SNV;PN=T;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.07927,C/0.9207;Gene=TSSC1/NM_003310.2/1;CC=c.516+12C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:62:54:0:0:1,32,29:9,1027,927:-0.08,99.62,0.00:-0.02,64.27,0.00:-0.07,35.35,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.0,43.7,6.6:0,0,0:0,0,0:111,49,45:19,101,101:0,22,23:NM_003310.2(TSSC1) c.516+12C>G,-:0.93,-:0.916885,- 2 3218020 . C . . NT END=3261069;NT GT ./. 2 3218348 rs10200437 T C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.08886,C/0.9111;PC=0.001;Gene=TSSC1/NM_003310.2/1;CC=c.417-329A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:102:12.06:0.00:12.06:1.00:0.00:1.00:60:71.8:0:0:119:30:11:NM_003310.2(TSSC1) c.417-329A>G,NM_003310.2(TSSC1) c.417-329A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 3241058 rs12464973 C T 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.09345,T/0.9065;PC=0.041;Gene=TSSC1/NM_003310.2/1;CC=c.416+20012G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:193:22.16:12.42:9.74:1.00:1.00:1.00:60:58.0:0:0:52:82:6:NM_003310.2(TSSC1) c.416+20012G>A,NM_003310.2(TSSC1) c.416+20012G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 2 3260822 rs2602745 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2806,G/0.7194;Gene=TSSC1/NM_003310.2/1;CC=c.416+248T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:9:9:0:0:5,4:155,119:0.00,11.12:0.00,11.12:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:14.2,66.5:0,0:0,0:33,41:118,97:11,20:-,NM_003310.2(TSSC1) c.416+248T>C:-,0.69:-,NOT_FOUND 2 3261227 . C . . NT END=3341787;NT GT ./. 2 3341567 rs7599088 T C 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7772,C/0.2228;Gene=TSSC1/NM_003310.2/1;CC=c.259+221A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:169:19.74:19.74:0.00:1.00:1.00:0.00:60:46.2:0:0:74:76:36:NM_003310.2(TSSC1) c.259+221A>G,NM_003310.2(TSSC1) c.259+221A>G:0.26,0.26:NOT_FOUND,NOT_FOUND 2 3341921 . C . . NT END=3358320;NT GT ./. 2 3342009 rs3811617 T C 186 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.3976,C/0.6024;Gene=TSSC1/NM_003310.2/1;CC=c.127-89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C:52:21:0:0:52:1612:185.93:53.87:132.06:1.00:1.00:1.00:60:41.5:0:0:109:39:22:NM_003310.2(TSSC1) c.127-89A>G,NM_003310.2(TSSC1) c.127-89A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 2 3342161 rs3811618 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3932,G/0.6068;PC=0.003;Gene=TSSC1/NM_003310.2/1;CC=c.127-241T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:33.0:0:0:120:29:19:NM_003310.2(TSSC1) c.127-241T>C,NM_003310.2(TSSC1) c.127-241T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 3358098 rs7570358 G A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7788,A/0.2212;Gene=TSSC1/NM_003310.2/1;CC=c.126+223C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:135:15.84:15.84:0.00:1.00:1.00:0.00:60:51.4:0:0:57:94:30:NM_003310.2(TSSC1) c.126+223C>T,NM_003310.2(TSSC1) c.126+223C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 2 3358120 rs35431353 G T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.853,T/0.147;Gene=TSSC1/NM_003310.2/1;CC=c.126+201C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,T:7:7:0:0:4,3:113,82:0.00,7.56:0.00,7.56:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:32.0,54.0:0,0:0,0:54,32:96,119:36,11:-,NM_003310.2(TSSC1) c.126+201C>A:-,0.18:-,NOT_FOUND 2 3358295 rs12612251 T C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.9389,C/0.0611;PC=0.851;Gene=TSSC1/NM_003310.2/1;CC=c.126+26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:27:0:0:15,15:475,498:45.58,0.00:42.53,0.00:3.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,2.9:0,0:0,0:38,46:113,104:32,29:NM_003310.2(TSSC1) c.126+26A>G,-:0.07,-:0.066815,- 2 3358405 . C . . NT END=3381418;NT GT ./. 2 3358458 rs146001084 ATTATGAAGTTAGAT A 112 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=ATTATGAAGTTAGAT/0.003594,A/0.9964;DB;DBA=NA;PAF=ATTATGAAGTTAGAT/0.003594,A/0.9964;NP=3105;PC=0.050;Gene=TSSC1/NM_003310.2/1;CC=c.43-68_43-55delATCTAACTTCATAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTATGAAGTTAGAT,A:42:21:0:33:9,33:287,1058:0.00,112.05:0.00,35.06:0.00,76.99:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.2,4.4:0,0:0,0:139,96:4,53:7,20:-,NM_003310.2(TSSC1) c.43-68_43-55delATCTAACTTCATAA:-,0.99:-,NOT_FOUND 2 3381189 rs13022433 G A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8544,A/0.1456;Gene=TSSC1/NM_003310.2/1;CC=c.42+230C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,G:10:10:0:0:4,6:119,163:10.90,0.00:10.90,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:37.2,25.8:0,0:0,0:26,50:124,100:19,8:NM_003310.2(TSSC1) c.42+230C>T,-:0.18,-:NOT_FOUND,- 2 3381461 . G . . NT END=3391394;NT GT ./. 2 3391826 rs11127423 C T 254 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=C/0.6949,T/0.3051;Gene=TRAPPC12/NM_016030.5/1;CC=c.432C>T;ProtCh=p.A144=;VC=Silent;DM=TRAPPC12/TPR_19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:172:92:0:0:90,82:2695,2663:0.00,253.70:0.00,111.88:0.00,141.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,42.9:0,0:0,0:88,88:51,59:31,24:-,NM_016030.5(TRAPPC12) c.432C>T (p.(=)):-,0.28:-,NOT_FOUND 2 3392075 rs10865541 T C 603 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=160;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TRAPPC12/NM_016030.5/1;CC=c.681T>C;ProtCh=p.F227=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:160:116:0:0:160:5267:602.84:336.20:266.65:1.00:1.00:1.00:60:41.3:0:0:64:84:43:NM_016030.5(TRAPPC12) c.681T>C (p.(=)),NM_016030.5(TRAPPC12) c.681T>C (p.(=)):0.64,0.64:0.621252,0.621252 2 3392295 rs11686212 A G 284 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=A/0.5321,G/0.4679;PC=1.000;Gene=TRAPPC12/NM_016030.5/1;CC=c.901A>G;ProtCh=p.S301G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:187:135:0:0:94,93:3057,2961:0.00,284.18:0.00,138.13:0.00,146.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,37.0:0,0:0,0:72,79:74,72:44,39:-,NM_016030.5(TRAPPC12) c.901A>G (p.Ser301Gly):-,0.44:-,0.387206 2 3392442 . G . . NT END=3405547;NT GT ./. 2 3392513 rs12999423 T C 211 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.3462,C/0.6538;Gene=TRAPPC12/NM_016030.5/1;CC=c.1047+72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:C:57:10:0:0:57:1840:211.00:20.08:190.91:1.00:1.00:1.00:60:66.8:0:0:105:42:29:NM_016030.5(TRAPPC12) c.1047+72T>C,NM_016030.5(TRAPPC12) c.1047+72T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 3392514 rs12999424 T A 179 nt VT=SNV;PN=T;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.3454,A/0.6546;Gene=TRAPPC12/NM_016030.5/1;CC=c.1047+73T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:A,C,G:53:9:0:0:51,1,1:1552,10,10:178.54,0.17,0.17:16.72,0.00,0.00:161.82,0.17,0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.3,129.0,26.0:0,0,0:0,0,0:106,79,9:41,68,142:28,0,0:NM_016030.5(TRAPPC12) c.1047+73T>A,NM_016030.5(TRAPPC12) c.1047+73T>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 3405665 . G . . NT END=3425651;NT GT ./. 2 3425514 rs7558487 G C 129 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.3235,A/.,C/0.6765;PC=0.377;Gene=TRAPPC12/NM_016030.5/1;CC=c.1165-138G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C:36:36:0:0:36:1118:128.93:128.93:0.00:1.00:1.00:0.00:60:39.4:0:0:47:101:34:NM_016030.5(TRAPPC12) c.1165-138G>C,NM_016030.5(TRAPPC12) c.1165-138G>C:0.65,0.65:NOT_FOUND,NOT_FOUND 2 3425766 . G . . NT END=3428295;NT GT ./. 2 3425948 rs10206964 T C 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3239,C/0.6761;Gene=TRAPPC12/NM_016030.5/1;CC=c.1278+183T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:15:0:0:0:15:375:44.19:0.00:44.19:1.00:0.00:1.00:60:47.2:0:0:106:45:37:NM_016030.5(TRAPPC12) c.1278+183T>C,NM_016030.5(TRAPPC12) c.1278+183T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 2 3428435 . G . . NT END=3447549;NT GT ./. 2 3428508 rs10166880 T G 59 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7716,G/0.2284;Gene=TRAPPC12/NM_016030.5/1;CC=c.1417+74T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:11:0:0:18,18:617,540:59.47,0.00:14.12,0.00:45.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,15.0:0,0:0,0:92,98:58,52:19,29:NM_016030.5(TRAPPC12) c.1417+74T>G,-:0.25,-:NOT_FOUND,- 2 3447663 . G . . NT END=3461391;NT GT ./. 2 3447827 rs4482520 T G 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3301,G/0.6699;Gene=TRAPPC12/NM_016030.5/1;CC=c.1530+165T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:395:45.22:0.00:45.22:1.00:0.00:1.00:60:35.1:0:0:89:61:24:NM_016030.5(TRAPPC12) c.1530+165T>G,NM_016030.5(TRAPPC12) c.1530+165T>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 3461465 . G . . NT END=3461565;NT GT ./. 2 3461812 rs61424875 GAGAGGCCTCTGCGTCGGGGAC G 88 PASS VT=DEL;SST=Single;DP=178;DB;DBA=NA;PAF=GAGAGGCCTCTGCGTCGGGGAC/0.5004,G/0.4996;DB;DBA=NA;PAF=GAGAGGCCTCTGCGTCGGGGAC/0.5004,G/0.4996;NP=218;Gene=TRAPPC12/NM_016030.5/1;CC=c.1603+376_1603+396delCTCTGCGTCGGGGACAGAGGC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAGAGGCCTCTGCGTCGGGGAC,G:178:125:0:36:142,36:4704,1093:0.00,87.59:0.00,46.53:0.00,41.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,5.6:0,0:0,0:104,58:34,93:28,14:-,NM_016030.5(TRAPPC12) c.1603+349_1603+369delAGAGGCCTCTGCGTCGGGGAC:-,NOT_FOUND:-,NOT_FOUND 2 3461833 rs77749801 C G 53 idl VT=SNV;PN=A;NN=A;SST=Single;DP=140;DB;DBA=NA;PAF=NA;Gene=TRAPPC12/NM_016030.5/1;CC=c.1603+369C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:140:97:0:40:119,21:3845,690:0.00,53.35:0.00,44.25:0.00,9.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,46.6:0,0:0,0:94,18:49,133:40,10:-,NM_016030.5(TRAPPC12) c.1603+369C>G:-,0.28:-,NOT_FOUND 2 3462194 . G . . NT END=3464033;NT GT ./. 2 3464108 . G . . NT END=3469367;NT GT ./. 2 3469278 rs4971513 C G 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6739,A/.,G/0.3261;Gene=TRAPPC12/NM_016030.5/1;CC=c.1678-90C>G;VC=Intron;DM=TRAPPC12/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:20:0:0:7,13:229,403:0.00,40.88:0.00,35.82:0.00,5.06:0.00,1.00:0.00,1.00:0.00,0.99:60,60:15.4,34.2:0,0:0,0:32,32:118,118:19,18:-,NM_016030.5(TRAPPC12) c.1678-90C>G:-,0.33:-,NOT_FOUND 2 3469463 rs4971514 G C 64 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5847,C/0.4153;PC=0.166;Gene=TRAPPC12/NM_016030.5/1;CC=c.1773G>C;ProtCh=p.L591=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:41:22:0:0:20,21:672,691:64.43,0.00:22.52,0.00:41.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,8.3:0,0:0,0:84,96:60,54:35,32:NM_016030.5(TRAPPC12) c.1773G>C (p.(=)),-:0.43,-:0.429955,- 2 3469467 . G . . NT END=3481465;NT GT ./. 2 3469702 rs4514905 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4089,G/0.5911;Gene=TRAPPC12/NM_016030.5/1;CC=c.1776+236A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:6:0:0:0:2,4:61,134:0.00,13.65:0.00,0.00:0.00,13.65:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,59.2:0,0:0,0:75,128:74,22:33,17:-,NM_016030.5(TRAPPC12) c.1776+236A>G:-,0.55:-,NOT_FOUND 2 3469708 rs4246575 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6402,G/0.3598;Gene=TRAPPC12/NM_016030.5/1;CC=c.1776+242A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:5:0:0:0:2,3:65,103:0.00,10.27:0.00,0.00:0.00,10.27:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,69.3:0,0:0,0:81,122:68,28:33,25:-,NM_016030.5(TRAPPC12) c.1776+242A>G:-,0.34:-,NOT_FOUND 2 3481567 . G . . NT END=3482616;NT GT ./. 2 3481637 rs4535074 T C 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5122,C/0.4878;Gene=TRAPPC12/NM_016030.5/1;CC=c.1877+71T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:2:0:0:12,9:279,288:27.21,0.00:-0.37,0.00:27.57,0.00:1.00,0.00:0.85,0.00:1.00,0.00:60,60:55.6,8.3:0,0:0,0:105,107:45,44:34,22:NM_016030.5(TRAPPC12) c.1877+71T>C,-:0.47,-:NOT_FOUND,- 2 3481659 rs4321399 G A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5697,A/0.4303;Gene=TRAPPC12/NM_016030.5/1;CC=c.1877+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:14:0:0:0:6,8:191,242:17.82,0.00:0.00,0.00:17.82,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:74.2,23.4:0,0:0,0:69,69:81,80:27,42:NM_016030.5(TRAPPC12) c.1877+93G>A,-:0.42,-:NOT_FOUND,- 2 3481716 rs4535075 T C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5126,C/0.4874;Gene=TRAPPC12/NM_016030.5/1;CC=c.1877+150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,T:10:0:0:0:5,5:177,136:17.11,0.00:0.00,0.00:17.11,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:90.6,11.2:0,0:0,0:121,91:29,60:5,16:NM_016030.5(TRAPPC12) c.1877+150T>C,-:0.47,-:NOT_FOUND,- 2 3482705 . G . . NT END=3482989;NT GT ./. 2 3482796 rs11890651 T G 96 nt VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.6382,G/0.3618;PC=0.001;Gene=TRAPPC12/NM_016030.5/1;CC=c.1965+92T>G;VC=Intron;DM=TRAPPC12/TPR_19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:63:39:0:0:33,30:997,944:96.44,0.00:61.83,0.00:34.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,10.3:0,0:0,0:58,45:93,106:36,33:NM_016030.5(TRAPPC12) c.1965+92T>G,-:0.35,-:NOT_FOUND,- 2 3482912 rs13431788 G A 193 nt VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.7115,A/0.2885;Gene=TRAPPC12/NM_016030.5/1;CC=c.1966-78G>A;VC=Intron;DM=TRAPPC12/TPR_19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:131:111:0:0:60,70,1:2030,2075,35:192.77,0.00,1.64:119.96,0.00,1.71:72.81,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.4,6.3,35.0:0,0,0:0,0,0:51,43,5:96,100,145:28,29,0:NM_016030.5(TRAPPC12) c.1966-78G>A,-:0.3,-:NOT_FOUND,- 2 3483205 rs6767 C T 117 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.5146,T/0.4854;PC=0.999;Gene=TRAPPC12/NM_016030.5/1;CC=c.2181C>T;ProtCh=p.F727=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:52:0:0:67,41:2204,1281:0.00,116.50:0.00,32.18:0.00,84.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,43.6:0,0:0,0:66,79:80,67:32,27:-,NM_016030.5(TRAPPC12) c.2181C>T (p.(=)):-,0.46:-,0.445333 2 3483233 . C . . NT END=3502733;NT GT ./. 2 3483390 rs7569694 T G 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5146,G/0.4854 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:14:0:0:0:7,7:223,212:21.40,0.00:0.00,0.00:21.40,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:46.3,11.0:0,0:0,0:85,77:66,74:43,22:chr2 g.3483389T>G (intergenic),-:0.46,-:NOT_FOUND,- 2 3502854 . C . . NT END=3504584;NT GT ./. 2 3502909 rs10627319 A ACTT 141 nt VT=INS;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.4573,ACTT/0.5427;NP=51;PC=0.001;Gene=ADI1/NM_001306077.1/1;CC=c.403-57_403-56insAAG;VC=Intron;Gene=ADI1/NM_018269.3/0;CC=c.421-57_421-56insAAG;VC=Intron;DM=ADI1/ARD;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACTT:108:36:47:0:61,47:2057,1505:0.00,140.81:0.00,23.35:0.00,117.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,39.2:1,0:0,0:98,74:46,74:33,21:-,NM_018269.3(ADI1) c.421-57_421-56insAAG:-,0.53:-,NOT_FOUND 2 3502910 rs58594264 G T 147 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ADI1/NM_001306077.1/1;CC=c.403-57C>A;VC=Intron;Gene=ADI1/NM_018269.3/0;CC=c.421-57C>A;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:101:31:0:0:1,53,47:32,1779,1546:1.45,0.00,147.00:-0.05,0.00,24.95:1.50,0.00,122.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.0,12.1,39.2:0,0,47:0,0,0:150,101,78:1,45,70:0,27,21:-,NM_018269.3(ADI1) c.421-57C>A:-,NOT_FOUND:-,NOT_FOUND 2 3504687 rs9950 A G 221 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.4665,G/0.5335;PC=0.100;Gene=ADI1/NM_001306077.1/1;CC=c.300T>C;ProtCh=p.D100=;VC=Silent;Gene=ADI1/NM_018269.3/0;CC=c.318T>C;ProtCh=p.D106=;VC=Silent;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:125:73:0:0:55,70:1782,2250:0.00,221.04:0.00,81.30:0.00,139.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,41.3:0,0:0,0:93,70:56,74:29,32:-,NM_018269.3(ADI1) c.318T>C (p.(=)):-,0.53:-,0.506843 2 3504765 . C . . NT END=3517627;NT GT ./. 2 3504819 rs34240449 A G 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4643,G/0.5357;PC=0.001;Gene=ADI1/NM_001306077.1/1;CC=c.223-55T>C;VC=Intron;Gene=ADI1/NM_018269.3/0;CC=c.241-55T>C;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:12:0:0:14,19:408,651:0.00,64.42:0.00,13.43:0.00,50.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,39.8:0,0:0,0:98,94:52,55:24,20:-,NM_018269.3(ADI1) c.241-55T>C:-,0.53:-,NOT_FOUND 2 3504893 rs397758685 G GA 23 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4744,GA/0.5256;DB;DBA=NA;PAF=G/0.4744,GA/0.5256;NP=558;PC=0.010;Gene=ADI1/NM_001306077.1/1;CC=c.223-130dupT;VC=Intron;Gene=ADI1/NM_018269.3/0;CC=c.241-130dupT;VC=Intron;DM=ADI1/ARD;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA:21:0:8:0:1,12,8:9,366,254:0.03,0.00,23.37:0.00,0.00,0.00:0.03,0.00,23.37:0.00,0.00,0.99:0.00,0.00,0.00:0.00,0.00,0.99:6,60,60:180.0,16.2,26.6:0,1,0:0,0,0:75,106,125:67,45,25:0,41,13:-,NM_018269.3(ADI1) c.241-130_241-129insT:-,0.51:-,NOT_FOUND 2 3505772 rs70938947 C CCA 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;Gene=ADI1/NM_001306077.1/1;CC=c.223-1009_223-1008insTG;VC=Intron;Gene=ADI1/NM_018269.3/0;CC=c.241-1009_241-1008insTG;VC=Intron;DM=ADI1/ARD;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,CCA:4:3:2:0:2,2:65,66:0.00,6.35:0.00,4.91:0.00,1.44:0.00,0.51:0.00,0.89:0.00,0.79:60,60:56.0,42.0:0,0:0,0:23,34:128,116:2,15:-,NM_018269.3(ADI1) c.241-1009_241-1008insTG:-,NOT_FOUND:-,NOT_FOUND 2 3505815 rs367871575 G A 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=ADI1/NM_001306077.1/1;CC=c.223-1051C>T;VC=Intron;Gene=ADI1/NM_018269.3/0;CC=c.241-1051C>T;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:3:0:0:2,2:66,70:6.35,0.00:2.92,0.00:3.43,0.00:0.51,0.00:0.89,0.00:0.79,0.00:60,60:56.0,42.0:2,0:0,0:53,79:98,71:2,15:NM_018269.3(ADI1) c.241-1051C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 3517373 rs35852722 T C 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5557,C/0.4443;PC=0.123;Gene=ADI1/NM_001306077.1/1;CC=c.222+255A>G;VC=Intron;Gene=ADI1/NM_018269.3/0;CC=c.240+255A>G;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:6:6:0:0:4,2:136,65:13.85,0.00:13.85,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:34.0,55.0:0,0:0,0:43,64:107,86:22,41:NM_018269.3(ADI1) c.240+255A>G,-:0.47,-:NOT_FOUND,- 2 3517748 . C . . NT END=3518578;NT GT ./. 2 3518617 . c . . NT END=3519649;NT GT ./. 2 3518643 rs7566663 T C 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.76,C/0.24;PC=0.002;Gene=ADI1/NM_001306077.1/1;CC=c.38A>G;ProtCh=p.H13R;VC=Missense;Gene=ADI1/NM_018269.3/0;CC=c.121-896A>G;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:12:0:0:14,18:406,595:37.69,0.00:7.70,0.00:29.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.8,3.9:0,0:0,0:121,78:29,59:21,36:NM_018269.3(ADI1) c.121-896A>G,-:0.25,-:NOT_FOUND,- 2 3519572 rs6422707 A C 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.3085,C/0.6915;PC=0.319;Gene=ADI1/NM_001306077.1/1;CC=c.-892T>G;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.121-1825T>G;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:22:0:0:22:685:78.94:78.94:0.00:1.00:1.00:0.00:60:60.5:0:0:54:96:32:NM_018269.3(ADI1) c.121-1825T>G,NM_018269.3(ADI1) c.121-1825T>G:0.73,0.73:NOT_FOUND,NOT_FOUND 2 3519616 rs13012176 A G 46 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5563,G/0.4437;PC=0.016;Gene=ADI1/NM_001306077.1/1;CC=c.-936T>C;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.121-1869T>C;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:28:0:0:13,15:397,471:0.00,45.86:0.00,40.47:0.00,5.39:0.00,1.00:0.00,1.00:0.00,0.95:60,60:60.8,56.1:0,0:0,0:64,49:87,101:45,29:-,NM_018269.3(ADI1) c.121-1869T>C:-,0.47:-,NOT_FOUND 2 3519656 rs6422708 T C 54 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.7584,C/0.2416;PC=0.020;Gene=ADI1/NM_001306077.1/1;CC=c.-976A>G;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.121-1909A>G;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:37:0:0:17,21:569,599:53.69,0.00:46.02,0.00:7.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.7,30.0:0,0:0,0:45,50:105,101:28,39:NM_018269.3(ADI1) c.121-1909A>G,-:0.25,-:NOT_FOUND,- 2 3519739 rs6422709 C A 118 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.8101,A/0.1899;Gene=ADI1/NM_001306077.1/1;CC=c.-1059G>T;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.121-1992G>T;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:68:49:0:0:36,32:1216,1063:118.36,0.00:65.43,0.00:52.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.9,14.3:0,0:0,0:69,66:79,79:26,26:NM_018269.3(ADI1) c.121-1992G>T,-:0.22,-:NOT_FOUND,- 2 3519839 rs13012839 A G 64 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.5563,G/0.4437;PC=0.045;Gene=ADI1/NM_001306077.1/1;CC=c.-1159T>C;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.121-2092T>C;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:56:25:0:0:32,1,23:1065,10,689:0.00,-0.09,63.61:0.00,-0.08,19.28:0.00,-0.01,44.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.4,138.0,39.5:0,0,0:0,0,0:90,107,91:60,17,58:28,0,26:-,NM_018269.3(ADI1) c.121-2092T>C:-,0.47:-,NOT_FOUND 2 3519878 . g . . NT END=3520465;NT GT ./. 2 3520047 rs6605294 G A 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3083,A/0.6917;PC=0.281;Gene=ADI1/NM_001306077.1/1;CC=c.-1367C>T;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.121-2300C>T;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:193:22.16:0.00:22.16:1.00:0.00:1.00:60:37.0:0:0:119:31:18:NM_018269.3(ADI1) c.121-2300C>T,NM_018269.3(ADI1) c.121-2300C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 3520245 . C CA 10 rn VT=INS;SST=Single;DP=7;PC=0.041;Gene=ADI1/NM_001306077.1/1;CC=c.-1566_-1565insT;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.121-2499_121-2498insT;VC=Intron;DM=ADI1/ARD;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,CA,D:5:7:3:3:1,3,1:35,99,89:0.00,9.98,2.47:0.00,9.98,2.47:0.00,0.00,0.00:0.00,0.69,0.00:0.00,0.69,0.00:0.00,0.00,0.00:60,60,60:0.0,28.7,365.0:0,0,2:0,0,0:63,97,45:88,54,105:0,15,36:-,NM_018269.3(ADI1) c.121-2499_121-2498insT:-,NOT_FOUND:-,NOT_FOUND 2 3520680 rs10656904 CTTTT C 114 PASS VT=DEL;SST=Single;DP=100;DB;DBA=NA;PAF=CTTTT/0.8109,C/0.1891;NP=255;PC=0.012;Gene=ADI1/NM_001306077.1/1;CC=c.-2004_-2001delAAAA;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.120+2455_120+2458delAAAA;VC=Intron;DM=ADI1/ARD;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTT,C:100:62:0:39:61,39:2050,1240:0.00,113.58:0.00,42.46:0.00,71.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,5.5:0,0:0,0:72,69:72,75:39,26:-,NM_018269.3(ADI1) c.120+2455_120+2458delAAAA:-,0.22:-,NOT_FOUND 2 3520733 . g . . NT END=3523138;NT GT ./. 2 3521051 rs7585610 C T 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3079,T/0.6921;PC=0.060;Gene=ADI1/NM_001306077.1/1;CC=c.-2371G>A;VC=5UTR;Gene=ADI1/NM_018269.3/0;CC=c.120+2088G>A;VC=Intron;DM=ADI1/ARD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:152:17.58:0.00:17.58:1.00:0.00:1.00:60:57.8:0:0:122:29:20:NM_018269.3(ADI1) c.120+2088G>A,NM_018269.3(ADI1) c.120+2088G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 3523259 . G . . NT END=3593374;NT GT ./. 2 3523324 rs10179340 A G 477 nt VT=SNV;PN=T;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=A/0.2546,G/0.7454;Gene=ADI1/NM_018269.3/0;CC=c.-66T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:129:57:0:0:1,127,1:12,4170,10:0.13,476.58,0.08:0.13,136.69,0.00:0.00,339.89,0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:134.0,41.1,83.0:0,0,0:0,0,0:107,92,114:44,50,37:0,25,0:NM_018269.3(ADI1) c.-66T>C,NM_018269.3(ADI1) c.-66T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 2 3523444 rs6751350 C A 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8125,A/0.1875 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:0:0:0:17,16:524,493:50.55,0.00:0.00,0.00:50.55,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.1,31.9:0,0:0,0:106,104:45,46:34,35:NM_018269.3(ADI1) c.-92-u94G>T,-:0.21,-:NOT_FOUND,- 2 3593462 . C . . NT END=3595520;NT GT ./. 2 3595646 . C . . NT END=3596229;NT GT ./. 2 3596315 . C . . NT END=3596647;NT GT ./. 2 3596703 . C . . NT END=3597962;NT GT ./. 2 3597974 rs10186193 T C 88 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.6244,C/0.3756;PC=0.110;Gene=RNASEH1/NM_001286834.1/0;CC=c.420A>G;ProtCh=p.P140=;VC=Silent;Gene=RNASEH1/NM_001286837.1/0;CC=c.147A>G;ProtCh=p.P49=;VC=Silent;Gene=RNASEH1/NM_002936.4/1;CC=c.498A>G;ProtCh=p.P166=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:46:0:0:29,25:903,854:87.90,0.00:53.43,0.00:34.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.6,4.0:0,0:0,0:46,56:103,93:29,27:NM_002936.3(RNASEH1) c.498A>G (p.(=)),-:0.37,-:0.444487,- 2 3598063 . C . . NT END=3599733;NT GT ./. 2 3599539 rs13399327 A G 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8283,G/0.1717;Gene=RNASEH1/NM_001286834.1/0;CC=c.331+195T>C;VC=Intron;Gene=RNASEH1/NM_001286837.1/0;CC=c.58+195T>C;VC=Intron;Gene=RNASEH1/NM_002936.4/1;CC=c.409+195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:14:14:0:0:4,10:131,321:0.00,33.23:0.00,33.23:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,32.1:0,0:0,0:38,64:112,86:9,33:-,NM_002936.3(RNASEH1) c.409+195T>C:-,0.19:-,NOT_FOUND 2 3599700 rs7563960 G T 77 nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.3674,T/0.6326;Gene=RNASEH1/NM_001286834.1/0;CC=c.331+34C>A;VC=Intron;Gene=RNASEH1/NM_001286837.1/0;CC=c.58+34C>A;VC=Intron;Gene=RNASEH1/NM_002936.4/1;CC=c.409+34C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:68:60:0:0:1,41,26:12,1340,837:-0.05,0.00,76.68:0.01,0.00,47.33:-0.06,0.00,29.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:211.0,5.3,35.7:0,0,0:0,0,0:28,37,27:121,101,111:0,25,25:-,NM_002936.3(RNASEH1) c.409+34C>A:-,0.62:-,0.714516 2 3599899 . C . . NT END=3604378;NT GT ./. 2 3600012 rs373198549 CCTCT C 15 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=CCTCT/0.8377,C/0.1623;DB;DBA=NA;PAF=CCTCT/0.8377,C/0.1623;NP=255;Gene=RNASEH1/NM_001286834.1/0;CC=c.167-118_167-115delAGAG;VC=Intron;Gene=RNASEH1/NM_001286837.1/0;CC=c.-107-118_-107-115delAGAG;VC=Intron;Gene=RNASEH1/NM_002936.4/1;CC=c.245-118_245-115delAGAG;VC=Intron;DM=RNASEH1/Cauli_VI;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,CCTCT,C:24:5:0:6:1,17,6:9,491,182:-0.05,0.00,15.33:-0.04,0.00,1.39:-0.02,0.00,13.95:0.00,0.00,0.92:0.00,0.00,0.75:0.00,0.00,0.92:60,60,60:36.0,22.1,12.3:0,0,0:0,0,0:128,130,121:22,21,29:0,18,8:-,NM_002936.3(RNASEH1) c.245-118_245-115delAGAG:-,0.18:-,NOT_FOUND 2 3600103 rs189348227 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8369,G/0.1631;PC=0.004;Gene=RNASEH1/NM_001286834.1/0;CC=c.167-205T>C;VC=Intron;Gene=RNASEH1/NM_001286837.1/0;CC=c.-107-205T>C;VC=Intron;Gene=RNASEH1/NM_002936.4/1;CC=c.245-205T>C;VC=Intron;DM=RNASEH1/Cauli_VI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:0:0:0:3,2:92,71:0.00,6.59:0.00,0.00:0.00,6.59:0.00,0.46:0.00,0.00:0.00,0.46:60,70:0.0,35.5:0,0:0,0:143,105:8,45:5,18:-,NM_002936.3(RNASEH1) c.245-205T>C:-,0.18:-,NOT_FOUND 2 3604495 . C . . NT END=3605484;NT GT ./. 2 3605468 rs12711976 A G 345 nt VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.3081,G/0.6919;PC=0.001;Gene=RNASEH1/NM_001286834.1/0;CC=c.50+255T>C;VC=Intron;Gene=RNASEH1/NM_001286837.1/0;CC=c.-224+17T>C;VC=Intron;Gene=RNASEH1/NM_002936.4/1;CC=c.128+255T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:91:81:0:0:91:3015:344.75:278.24:66.51:1.00:1.00:1.00:60:65.5:0:0:54:94:29:NM_002936.3(RNASEH1) c.128+255T>C,NM_002936.3(RNASEH1) c.128+255T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 2 3605528 rs62106013 T G 202 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=T/0.6084,G/0.3916;Gene=RNASEH1/NM_001286834.1/0;CC=c.50+195A>C;VC=Intron;Gene=RNASEH1/NM_001286837.1/0;CC=c.-267A>C;VC=5UTR;Gene=RNASEH1/NM_002936.4/1;CC=c.128+195A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:139:112:0:0:1,68,70:12,2109,2145:-0.10,201.76,0.00:-0.14,144.04,0.00:0.04,57.72,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:85.0,83.2,24.6:0,0,0:0,0,0:23,59,52:127,88,96:0,33,38:NM_002936.3(RNASEH1) c.128+195A>C,-:0.38,-:NOT_FOUND,- 2 3605538 rs34613047 A C 206 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=A/0.6072,C/0.3928;Gene=RNASEH1/NM_001286834.1/0;CC=c.50+185T>G;VC=Intron;Gene=RNASEH1/NM_001286837.1/0;CC=c.-277T>G;VC=5UTR;Gene=RNASEH1/NM_002936.4/1;CC=c.128+185T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:145:119:0:0:74,70,1:2448,2160,11:0.00,205.97,-0.13:0.00,142.10,-0.16:0.00,63.86,0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:19.8,82.3,109.0:0,0,0:0,0,0:40,71,36:109,79,105:29,38,0:-,NM_002936.3(RNASEH1) c.128+185T>G:-,0.38:-,NOT_FOUND 2 3605851 . C . . NT END=3623199;NT GT ./. 2 3623275 . G . . NT END=3623406;NT GT ./. 2 3623479 . G . . NT END=3624076;NT GT ./. 2 3623540 rs3087873 A G 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.1647,G/0.8353;Gene=RPS7/NM_001011.3/1;CC=c.147+62A>G;VC=Intron;DM=RPS7/Ribosomal_S7e;DM=RPS7/Ribosomal_S7e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:3:0:0:24:776:89.04:7.25:81.79:1.00:1.00:1.00:60:42.8:0:0:108:42:26:NM_001011.3(RPS7) c.147+62A>G,NM_001011.3(RPS7) c.147+62A>G:0.82,0.82:0.748576,0.748576 2 3624221 . G . . NT END=3625299;NT GT ./. 2 3625365 . G . . NT END=3627699;NT GT ./. 2 3627648 rs7576238 G C 145 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.09744,C/0.9026;Gene=RPS7/NM_001011.3/1;CC=c.357-52G>C;VC=Intron;DM=RPS7/Ribosomal_S7e;DM=RPS7/Ribosomal_S7e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A,C:40:38:0:0:1,39:11,1268:0.27,144.93:0.00,116.64:0.27,28.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:179.0,34.8:0,0:0,0:61,65:81,83:0,32:NM_001011.3(RPS7) c.357-52G>C,NM_001011.3(RPS7) c.357-52G>C:0.87,0.87:0.818451,0.818451 2 3627851 . G . . NT END=3628394;NT GT ./. 2 3628473 . A . . NT END=3651235;NT GT ./. 2 3651252 . G . . NT END=3651904;NT GT ./. 2 3652061 . G . . NT END=3653641;NT GT ./. 2 3653576 rs7604806 A G 64 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.3361,G/0.6639;Gene=COLEC11/NM_001255982.1/0;CC=c.130+1516A>G;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.130+1516A>G;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+1516A>G;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.130+1516A>G;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.42+1516A>G;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.172+1516A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:34:0:0:17,21:537,657:0.00,64.35:0.00,49.54:0.00,14.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,37.2:0,0:0,0:39,42:112,108:17,28:-,NM_024027.4(COLEC11) c.130+1516A>G:-,0.66:-,NOT_FOUND 2 3653834 . G . . NT END=3660900;NT GT ./. 2 3653844 rs3739147 T C 104 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.2488,C/0.7512;Gene=COLEC11/NM_001255982.1/0;CC=c.130+1784T>C;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.130+1784T>C;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+1784T>C;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.130+1784T>C;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.42+1784T>C;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.172+1784T>C;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.52+11T>C;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.52+11T>C;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.52+11T>C;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.52+11T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:81:31:0:0:37,1,43:1105,5,1366:104.17,-0.20,0.00:28.00,-0.02,0.00:76.18,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:31.9,63.0,6.1:0,0,0:0,0,0:96,97,119:45,54,31:29,0,26:NM_024027.4(COLEC11) c.130+1784T>C,-:0.72,-:NOT_FOUND,- 2 3660752 rs3811531 T C 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4241,C/0.5759;Gene=COLEC11/NM_001255982.1/0;CC=c.130+8692T>C;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.131-149T>C;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+8692T>C;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.131-149T>C;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.43-149T>C;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.173-149T>C;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.53-149T>C;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.52+6919T>C;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.53-149T>C;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.52+6919T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:11,7:348,225:34.84,0.00:34.84,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:60.3,7.1:0,0:0,0:33,67:118,84:11,23:NM_024027.4(COLEC11) c.131-149T>C,-:0.6,-:NOT_FOUND,- 2 3660973 . G . . NT END=3673603;NT GT ./. 2 3661181 rs11123651 T C 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.2676,C/0.7324;Gene=COLEC11/NM_001255982.1/0;CC=c.130+9121T>C;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.202+209T>C;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+9121T>C;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.202+209T>C;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.114+209T>C;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.244+209T>C;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.124+209T>C;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.52+7348T>C;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.124+209T>C;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.52+7348T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,T:12:0:0:0:9,3:259,99:27.21,0.00:0.00,0.00:27.21,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.4,3.3:0,0:0,0:108,110:43,41:32,5:NM_024027.4(COLEC11) c.202+209T>C,-:0.72,-:NOT_FOUND,- 2 3665138 rs11892595 C T 121 nt VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.2782,T/0.7218;PC=1.000;Gene=COLEC11/NM_001255982.1/0;CC=c.130+13078C>T;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.202+4166C>T;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+13078C>T;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.202+4166C>T;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.114+4166C>T;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.244+4166C>T;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.124+4166C>T;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.52+11305C>T;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.124+4166C>T;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.52+11305C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:55:0:0:26,40:858,1212:0.00,120.95:0.00,84.15:0.00,36.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,75.0:0,0:0,0:36,63:114,83:21,29:-,NM_024027.4(COLEC11) c.202+4166C>T:-,NOT_FOUND:-,NOT_FOUND 2 3665146 rs11896016 T C 131 nt VT=SNV;PN=T;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.2784,C/0.7216;PC=0.967;Gene=COLEC11/NM_001255982.1/0;CC=c.130+13086T>C;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.202+4174T>C;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+13086T>C;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.202+4174T>C;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.114+4174T>C;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.244+4174T>C;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.124+4174T>C;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.52+11313T>C;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.124+4174T>C;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.52+11313T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:58:0:0:41,28:1318,902:131.10,0.00:91.59,0.00:39.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.4,4.9:0,0:0,0:74,42:73,106:31,27:NM_024027.4(COLEC11) c.202+4174T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 3665342 rs2312925 T C 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.2428,C/0.7572;Gene=COLEC11/NM_001255982.1/0;CC=c.130+13282T>C;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.202+4370T>C;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+13282T>C;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.202+4370T>C;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.114+4370T>C;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.244+4370T>C;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.124+4370T>C;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.52+11509T>C;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.124+4370T>C;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.52+11509T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:12:0:0:28,16:828,543:83.49,0.00:10.79,0.00:72.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,5.1:0,0:0,0:97,108:48,43:30,31:NM_024027.4(COLEC11) c.202+4370T>C,-:0.74,-:NOT_FOUND,- 2 3665445 rs7576886 A C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.2782,C/0.7218;PC=0.034;Gene=COLEC11/NM_001255982.1/0;CC=c.130+13385A>C;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.202+4473A>C;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.130+13385A>C;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.202+4473A>C;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.114+4473A>C;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.244+4473A>C;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.124+4473A>C;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.52+11612A>C;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.124+4473A>C;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.52+11612A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:0:0:0:11,8:315,276:0.00,25.82:0.00,0.00:0.00,25.82:0.00,0.99:0.00,0.00:0.00,0.99:60,60:6.5,58.5:0,0:0,0:85,128:65,22:15,9:-,NM_024027.4(COLEC11) c.202+4473A>C:-,0.72:-,NOT_FOUND 2 3673648 rs10170348 G A 92 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.8808,A/0.1192;PC=0.002;Gene=COLEC11/NM_001255982.1/0;CC=c.131-11475G>A;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.202+12676G>A;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.131-14220G>A;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.203-11475G>A;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.159G>A;ProtCh=p.K53=;VC=Silent;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.245-11475G>A;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.125-11475G>A;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.53-11475G>A;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.124+12676G>A;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.53-14220G>A;VC=Intron;DM=COLEC11/Collagen;DM=COLEC11/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:53:0:0:30,39:987,1343:92.49,0.00:58.72,0.00:33.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,5.8:0,0:0,0:86,70:62,79:27,27:NM_024027.4(COLEC11) c.203-11475G>A,-:0.15,-:0.10795,- 2 3673683 . G . . NT END=3685122;NT GT ./. 2 3684912 rs3811529 C T 18 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.375,T/0.625;Gene=COLEC11/NM_001255982.1/0;CC=c.131-211C>T;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.203-2956C>T;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.131-2956C>T;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.203-211C>T;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.194-211C>T;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.245-211C>T;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.125-211C>T;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.53-211C>T;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.125-2956C>T;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.53-2956C>T;VC=Intron;DM=COLEC11/Collagen;DM=COLEC11/Collagen;DM=COLEC11/Collagen;DM=COLEC11/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:157:18.08:18.08:0.00:1.00:1.00:0.00:60:74.2:0:0:6:141:1:NM_024027.4(COLEC11) c.203-211C>T,NM_024027.4(COLEC11) c.203-211C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 3685046 rs3811528 T C 101 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.148,C/0.852;Gene=COLEC11/NM_001255982.1/0;CC=c.131-77T>C;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.203-2822T>C;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.131-2822T>C;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.203-77T>C;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.194-77T>C;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.245-77T>C;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.125-77T>C;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.53-77T>C;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.125-2822T>C;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.53-2822T>C;VC=Intron;DM=COLEC11/Collagen;DM=COLEC11/Collagen;DM=COLEC11/Collagen;DM=COLEC11/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:C,G:29:27:0:0:28,1:881,13:100.90,0.46:80.27,0.46:20.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.2,44.0:0,0:0,0:49,144:101,7:27,0:NM_024027.4(COLEC11) c.203-77T>C,NM_024027.4(COLEC11) c.203-77T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 3685074 rs3811527 A G 145 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.1476,G/0.8524;Gene=COLEC11/NM_001255982.1/0;CC=c.131-49A>G;VC=Intron;Gene=COLEC11/NM_001255983.1/0;CC=c.203-2794A>G;VC=Intron;Gene=COLEC11/NM_001255984.1/0;CC=c.131-2794A>G;VC=Intron;Gene=COLEC11/NM_024027.4/1;CC=c.203-49A>G;VC=Intron;Gene=COLEC11/NM_199235.2/0;CC=c.194-49A>G;VC=Intron;Gene=COLEC11/NR_045659.1/0;VC=NonCoding;Gene=COLEC11/NM_001255985.1/0;CC=c.245-49A>G;VC=Intron;Gene=COLEC11/NM_001255986.1/0;CC=c.125-49A>G;VC=Intron;Gene=COLEC11/NM_001255987.1/0;CC=c.53-49A>G;VC=Intron;Gene=COLEC11/NM_001255988.1/0;CC=c.125-2794A>G;VC=Intron;Gene=COLEC11/NM_001255989.1/0;CC=c.53-2794A>G;VC=Intron;DM=COLEC11/Collagen;DM=COLEC11/Collagen;DM=COLEC11/Collagen;DM=COLEC11/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:G:41:37:0:0:41:1256:144.99:104.28:40.71:1.00:1.00:1.00:60:58.4:0:0:35:110:27:NM_024027.4(COLEC11) c.203-49A>G,NM_024027.4(COLEC11) c.203-49A>G:0.84,0.84:0.813394,0.813394 2 3685195 . G . . NT END=3687867;NT GT ./. 2 3687922 . G . . NT END=3688829;NT GT ./. 2 3689023 . G . . NT END=3691033;NT GT ./. 2 3691130 . G . . NT END=3691316;NT GT ./. 2 3691709 . G . . NT END=3718747;NT GT ./. 2 3718692 rs13409104 C T 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.6546,T/0.3454;PC=1.000;Gene=ALLC/NM_018436.3/1;CC=c.-56C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:50:0:0:30,27:966,837:0.00,79.41:0.00,46.85:0.00,32.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,36.1:0,0:0,0:67,57:79,85:31,26:-,NM_018436.3(ALLC) c.-56C>T:-,0.37:-,0.422032 2 3718781 . G . . NT END=3721664;NT GT ./. 2 3718985 rs34086816 A G 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6542,G/0.3458;Gene=ALLC/NM_018436.3/1;CC=c.33+205A>G;VC=Intron;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:15:0:0:0:6,9:193,282:0.00,28.09:0.00,0.00:0.00,28.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.0,38.1:0,0:0,0:63,98:87,53:34,47:-,NM_018436.3(ALLC) c.33+205A>G:-,0.37:-,NOT_FOUND 2 3721632 rs13390724 G A 91 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.6637,A/0.3363;PC=0.013;Gene=ALLC/NM_018436.3/1;CC=c.34-33G>A;VC=Intron;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:41:0:0:29,16:904,522:91.47,0.00:68.94,0.00:22.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.2,6.0:0,0:0,0:54,28:95,107:32,23:NM_018436.3(ALLC) c.34-33G>A,-:0.37,-:0.384722,- 2 3721716 . G . . NT END=3726057;NT GT ./. 2 3721729 rs12105179 A G 95 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.491,C/.,G/0.509;Gene=ALLC/NM_018436.3/1;CC=c.84+14A>G;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:23:0:0:13,28:407,930:0.00,95.22:0.00,32.47:0.00,62.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,50.5:0,0:0,0:101,82:50,56:21,32:-,NM_018436.3(ALLC) c.84+14A>G:-,0.52:-,0.598179 2 3725964 rs72769388 C T 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.8269,T/0.1731;Gene=ALLC/NM_018436.3/1;CC=c.85-94C>T;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:34:0:0:12,23:369,763:0.00,77.49:0.00,69.19:0.00,8.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,49.1:0,0:0,0:23,42:127,109:9,30:-,NM_018436.3(ALLC) c.85-94C>T:-,0.21:-,NOT_FOUND 2 3726146 . G . . NT END=3727458;NT GT ./. 2 3726163 rs2043080 T C 90 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.5481,C/0.4519;Gene=ALLC/NM_018436.3/1;CC=c.172+18T>C;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:44:20:0:0:27,1,16:890,13,522:89.50,0.20,0.00:32.89,-0.04,0.00:56.61,0.23,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.9,153.0,25.2:0,0,0:0,0,0:108,96,97:39,55,54:30,0,36:NM_018436.3(ALLC) c.172+18T>C,-:0.47,-:0.54658,- 2 3727297 rs10203738 A C 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.9537,C/0.04633;Gene=ALLC/NM_018436.3/1;CC=c.173-162A>C;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:25:25:0:0:13,12:367,374:0.00,35.61:0.00,35.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.8,36.6:0,0:0,0:34,76:117,73:31,27:-,NM_018436.3(ALLC) c.173-162A>C:-,0.06:-,NOT_FOUND 2 3727585 . G . . NT END=3729223;NT GT ./. 2 3729304 . G . . NT END=3730531;NT GT ./. 2 3730295 rs572177802 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9764,T/0.02356;NP=10;Gene=ALLC/NM_018436.3/1;CC=c.379-237C>T;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:10:10:0:0:5,5:163,161:0.00,15.47:0.00,15.47:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,40:21.4,67.4:0,0:0,0:48,65:103,86:29,3:-,NM_018436.3(ALLC) c.379-237C>T:-,NOT_FOUND:-,NOT_FOUND 2 3730301 rs141495700 C G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9762,G/0.02376;PC=0.004;Gene=ALLC/NM_018436.3/1;CC=c.379-231C>G;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,G:9:9:0:0:4,5:130,166:0.00,16.30:0.00,16.30:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,40:26.8,67.4:0,0:0,0:39,71:111,80:23,3:-,NM_018436.3(ALLC) c.379-231C>G:-,0.02:-,NOT_FOUND 2 3730665 . G . . NT END=3743306;NT GT ./. 2 3730877 rs6732295 A T 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7746,T/0.2254;Gene=ALLC/NM_018436.3/1;CC=c.511+213A>T;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,T:9:0:0:0:3,6:78,197:0.00,20.08:0.00,0.00:0.00,20.08:0.00,0.99:0.00,0.00:0.00,0.99:60,60:6.0,34.8:0,0:0,0:102,97:46,54:10,32:-,NM_018436.3(ALLC) c.511+213A>T:-,0.26:-,NOT_FOUND 2 3743463 . G . . NT END=3743864;NT GT ./. 2 3743939 . G . . NT END=3744937;NT GT ./. 2 3745047 . G . . NT END=3749101;NT GT ./. 2 3745211 rs112134730 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7754,A/0.2246;NP=222;PC=0.004;Gene=ALLC/NM_018436.3/1;CC=c.850+165G>A;VC=Intron;DM=ALLC/Allantoicase;DM=ALLC/Allantoicase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:9:0:0:0:4,5:128,167:12.02,0.00:0.00,0.00:12.02,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:32.0,0.0:0,0:0,0:115,125:36,25:21,15:NM_018436.3(ALLC) c.850+165G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 3749227 . G . . NT END=3749952;NT GT ./. 2 3750154 . C . . NT END=3751341;NT GT ./. 2 3751091 rs11123613 A C 53 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.528,C/0.472 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:14:0:0:15:457:52.81:49.03:3.78:1.00:1.00:1.00:60:51.9:0:0:69:82:39:XM_001127882.4(DCDC2C) c.-154-u97A>C,XM_001127882.4(DCDC2C) c.-154-u97A>C:0.49,0.49:NOT_FOUND,NOT_FOUND 2 3751213 rs62106595 C T 214 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.6871,T/0.3129;Gene=DCDC2C/NM_001287444.1/1;CC=c.-129C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:C,T:60:58:0:0:1,59:7,1877:0.00,214.35:0.00,200.90:0.00,13.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:53.0,50.2:0,0:0,0:150,46:1,105:0,33:XM_001127882.4(DCDC2C) c.-129C>T,XM_001127882.4(DCDC2C) c.-129C>T:0.32,0.32:NOT_FOUND,NOT_FOUND 2 3751629 . G . . NT END=3756138;NT GT ./. 2 3751705 rs35537698 C T 304 nt VT=SNV;PN=C;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.5881,T/0.4119;Gene=DCDC2C/NM_001287444.1/1;CC=c.287+77C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:86:14:0:0:1,1,84:10,11,2649:0.12,0.15,304.01:0.00,0.00,32.60:0.12,0.15,271.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:190.0,85.0,56.0:0,0,0:0,0,0:29,24,103:107,127,43:0,0,27:XM_001127882.4(DCDC2C) c.287+77C>T,XM_001127882.4(DCDC2C) c.287+77C>T:0.43,0.43:NOT_FOUND,NOT_FOUND 2 3751769 rs34652310 C T 131 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=DCDC2C/NM_001287444.1/1;CC=c.287+141C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:C,T:42:1:0:0:3,39:18,1162:0.00,131.15:0.00,1.47:0.00,129.68:0.00,1.00:0.00,0.95:0.00,1.00:60,60:110.0,93.5:0,0:0,0:23,115:128,36:17,27:XM_001127882.4(DCDC2C) c.287+141C>T,XM_001127882.4(DCDC2C) c.287+141C>T:0.25,0.25:NOT_FOUND,NOT_FOUND 2 3751772 rs10186479 A C 127 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.5829,C/0.4171;Gene=DCDC2C/NM_001287444.1/1;CC=c.287+144A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:41:0:0:0:41:1079:126.81:0.00:126.81:1.00:0.00:1.00:60:94.6:0:0:108:40:31:XM_001127882.4(DCDC2C) c.287+144A>C,XM_001127882.4(DCDC2C) c.287+144A>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 3756073 rs17505481 G A 78 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.6703,A/0.3297;Gene=DCDC2C/NM_001287444.1/1;CC=c.288-66G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:A,C:23:23:0:0:22,1:681,10:78.08,0.33:66.31,0.33:11.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,70.0:0,0:0,0:54,87:97,64:35,0:XM_001127882.4(DCDC2C) c.288-66G>A,XM_001127882.4(DCDC2C) c.288-66G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 2 3756191 . G . . NT END=3774592;NT GT ./. 2 3774258 rs13020649 T C 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9107,C/0.08926;Gene=DCDC2C/NM_001287444.1/1;CC=c.340-335T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:4:4:0:0:2,2:67,71:6.45,0.00:6.45,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:88.5,0.0:0,0:0,0:44,43:106,106:29,14:XM_001127882.4(DCDC2C) c.340-335T>C,-:0.1,-:NOT_FOUND,- 2 3774436 rs357940 C T 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.04593,T/0.9541;Gene=DCDC2C/NM_001287444.1/1;CC=c.340-157C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:15:0:0:15:463:53.45:53.45:0.00:1.00:1.00:0.00:60:97.5:0:0:34:117:19:XM_001127882.4(DCDC2C) c.340-157C>T,XM_001127882.4(DCDC2C) c.340-157C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 3774448 rs12711970 T C 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4752,C/0.5248;Gene=DCDC2C/NM_001287444.1/1;CC=c.340-145T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:516:59.67:59.67:0.00:1.00:1.00:0.00:60:95.0:0:0:34:116:24:XM_001127882.4(DCDC2C) c.340-145T>C,XM_001127882.4(DCDC2C) c.340-145T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 2 3774519 rs357941 T C 122 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.04493,C/0.9551;Gene=DCDC2C/NM_001287444.1/1;CC=c.340-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:30:0:0:35:1050:121.56:94.76:26.80:1.00:1.00:1.00:60:58.3:0:0:25:123:23:XM_001127882.4(DCDC2C) c.340-74T>C,XM_001127882.4(DCDC2C) c.340-74T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 3774670 . G . . NT END=3789509;NT GT ./. 2 3789383 rs2249380 A C 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.1705,C/0.8295;Gene=DCDC2C/NM_001287444.1/1;CC=c.417-127A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:26:0:0:9,17:283,544:0.00,55.20:0.00,51.81:0.00,3.39:0.00,1.00:0.00,1.00:0.00,0.90:60,60:3.4,46.9:0,0:0,0:37,40:114,111:17,26:-,XM_001127882.4(DCDC2C) c.417-127A>C:-,0.79:-,NOT_FOUND 2 3789639 . G . . NT END=3800352;NT GT ./. 2 3800491 . G . . NT END=3802181;NT GT ./. 2 3802225 . G . . NT END=3815343;NT GT ./. 2 3815250 rs10180257 A G 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2859,G/0.7141;Gene=DCDC2C/NM_001287444.1/1;CC=c.727-94A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:28:26:0:0:18,1,9:520,8,282:0.00,-0.10,25.03:0.00,-0.04,20.95:0.00,-0.06,4.09:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.93:60,60,60:10.3,43.0,47.4:0,0,0:0,0,0:43,141,65:104,10,86:18,0,43:-,XM_001127882.4(DCDC2C) c.727-94A>G:-,0.71:-,NOT_FOUND 2 3815471 . G . . NT END=3816900;NT GT ./. 2 3815532 rs562268643 A AT 84 rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.5861,AT/0.4139;DB;DBA=NA;PAF=A/0.5861,AT/0.4139;DB;DBA=NA;PAF=A/0.5861,AT/0.4139;NP=40;PC=0.001;Gene=DCDC2C/NM_001287444.1/1;CC=c.853+74dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:40:24:28:0:13,27:429,856:0.00,84.11:0.00,30.55:0.00,53.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,11.0:0,1:0,0:133,75:13,74:9,25:-,XM_001127882.4(DCDC2C) c.853+62_853+63insT:-,NOT_FOUND:-,NOT_FOUND 2 3815767 rs4849927 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2568,A/0.7432;Gene=DCDC2C/NM_001287444.1/1;CC=c.853+297G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:5:0:0:0:3,2:101,65:10.07,0.00:0.00,0.00:10.07,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:33.7,3.5:0,0:0,0:117,138:34,13:26,8:XM_001127882.4(DCDC2C) c.853+297G>A,-:0.73,-:NOT_FOUND,- 2 3817002 . G . . NT END=3826405;NT GT ./. 2 3826475 . G . . NT END=3832648;NT GT ./. 2 3832691 . G . . NT END=3894743;NT GT ./. 2 3894559 rs968796 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4044,A/0.5956;Gene=DCDC2C/NM_001287444.1/1;CC=c.1066-185G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:10:9:0:0:5,5:171,147:16.48,0.00:12.90,0.00:3.58,0.00:0.95,0.00:1.00,0.00:0.67,0.00:60,60:101.8,62.8:0,0:0,0:42,37:100,97:17,3:XM_001127882.4(DCDC2C) c.1066-185G>A,-:0.54,-:NOT_FOUND,- 2 3894611 . A C 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;Gene=DCDC2C/NM_001287444.1/1;CC=c.1066-133A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,C:13:12:0:0:8,5:203,90:0.00,7.61:0.00,7.82:0.00,-0.21:0.00,0.91:0.00,0.99:0.00,0.59:60,60:38.4,106.8:0,0:0,0:52,92:95,45:38,3:-,XM_001127882.4(DCDC2C) c.1066-133A>C:-,NOT_FOUND:-,NOT_FOUND 2 3894774 . C . . NT END=5832853;NT GT ./. 2 3932464 rs373856604 T TG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=13;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:T,TG:4:4:3:0:1,3:22,99:0.00,10.36:0.00,10.36:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:54.0,3.7:0,0:0,0:86,84:65,34:0,31:-,chr2 g.3932464_3932465insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 3974425 rs5015945 G A 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5072,A/0.4928;NP=121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:4:2:0:0:2,2:67,69:6.45,0.00:1.64,0.00:4.81,0.00:0.51,0.00:0.79,0.00:0.51,0.00:60,60:102.0,0.0:0,0:0,0:81,109:68,41:37,17:chr2 g.3974424G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 3974427 rs5015946 G A 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4301,A/0.5699;NP=2;NP=234;NP=3;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:4:2:0:0:2,2:66,62:6.35,0.00:1.59,0.00:4.76,0.00:0.51,0.00:0.79,0.00:0.51,0.00:60,60:97.5,0.0:0,0:0,0:112,111:38,39:8,17:chr2 g.3974426G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 4562203 rs539881478 TACC T 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TACC/0.8191,T/0.1809;DB;DBA=NA;PAF=TACC/0.8191,T/0.1809;NP=606;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:4:4:107:12.60:7.05:5.55:1.00:1.00:1.00:60:6.2:0:0:53:96:25:chr2 g.4562204_4562206delACC (intergenic),chr2 g.4562204_4562206delACC (intergenic):0.16,0.16:NOT_FOUND,NOT_FOUND 2 4673886 rs5828944 G GGTGT 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=23;NP=3;PC=0.001;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GGTGT:5:4:4:0:2,3:67,123:0.00,8.82:0.00,5.70:0.00,3.12:0.00,0.73:0.00,0.51:0.00,0.96:60,60:22.0,16.0:0,1:0,0:31,20:99,91:3,1:-,chr2 g.4673886_4673887insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 4810408 . A G 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:5:5:0:0:2,3:68,104:0.00,10.37:0.00,4.99:0.00,5.38:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,73.7:0,0:0,0:79,30:52,44:6,0:-,chr2 g.4810407A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 4810435 . T A 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,T:5:5:0:0:2,3:70,101:6.49,0.00:3.14,0.00:3.36,0.00:0.46,0.00:0.46,0.00:0.87,0.00:60,60:70.0,27.0:0,0:0,0:57,100:17,17:0,13:chr2 g.4810434T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 4924720 . GCA G,GCGCGCACA 10 idl,nt VT=INS;SST=Single;DP=4;NP=1;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:GCGCGCACA,G:4:4:3:1:3,1:91,33:10.15,3.18:6.95,1.59:3.20,1.59:0.85,0.00:0.85,0.00:0.99,0.00:60,60:120.3,0.0:0,0:0,0:70,37:81,76:7,0:chr2 g.4924721_4924722delCA (intergenic),chr2 g.4924721_4924722insGCGCAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 4945876 rs7421733 C G,CTGTGTGTG 7 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=156;NP=19;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:G,CTGTGTGTG,D:4:3:2:1:2,1,1:68,65,3:6.96,3.08,0.15:5.17,1.54,0.00:1.79,1.54,0.15:0.46,0.00,0.00:0.80,0.00,0.00:0.87,0.00,0.00:60,60,3:68.5,35.0,0.0:0,1,0:0,0,0:12,28,119:129,93,32:0,0,0:chr2 g.4945875C>G (intergenic),chr2 g.4945876_4945877insTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 4945960 rs6542646 A G 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8353,G/0.1647;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:3:0:0:1,3:34,104:0.00,10.85:0.00,5.03:0.00,5.83:0.00,0.85:0.00,0.99:0.00,0.95:60,60:48.0,57.3:0,0:0,0:105,97:1,40:0,1:-,chr2 g.4945959A>G (intergenic):-,0.15:-,NOT_FOUND 2 4955987 rs57119022 GCA G 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=204;PC=0.806;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:GCA,G:5:5:0:4:2,3:48,88:0.00,8.78:0.00,8.78:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,37.7:0,0:0,0:83,34:67,117:43,0:-,chr2 g.4955988_4955989delCA (intergenic):-,0.32:-,NOT_FOUND 2 4955999 rs2256049 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.06769,G/0.9323;PC=0.055 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,G:6:6:0:0:3,3:102,84:0.00,8.02:0.00,8.17:0.00,-0.15:0.00,0.73:0.00,0.73:0.00,0.67:60,60:8.3,37.7:0,1:0,0:119,44:32,107:20,0:-,chr2 g.4955998A>G (intergenic):-,0.87:-,NOT_FOUND 2 5202144 rs70939947 A ATG 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=17;NP=69;PC=0.001;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,ATG:4:5:3:0:2,2:65,101:0.00,6.51:0.00,3.20:0.00,3.32:0.00,0.46:0.00,0.46:0.00,0.80:60,60:54.0,0.0:0,1:0,0:63,48:87,65:57,13:-,chr2 g.5202144_5202145insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 5443447 rs5828997 CA C 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=125;PC=0.001;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CA,C:4:3:0:3:1,3:35,85:0.00,8.95:0.00,6.60:0.00,2.35:0.00,0.85:0.00,0.99:0.00,0.83:60,60:56.0,10.7:0,0:0,0:33,40:98,98:0,14:-,chr2 g.5443448delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 5462344 rs67940932 TTG T 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=452;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TTG,T:4:4:0:3:1,3:34,98:0.00,10.25:0.00,8.43:0.00,1.83:0.00,0.85:0.00,0.85:0.00,0.83:60,60:48.0,0.0:0,0:0,0:71,52:79,99:0,1:-,chr2 g.5462345_5462346delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 5822930 rs146676025 T TTG 30 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4091,TTG/0.5909,TTGTG/.;NP=202;NP=4;PC=0.015;Gene=LINC01248/NR_110580.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:TTG:8:6:8:0:8:258:29.61:13.07:16.55:1.00:1.00:1.00:60:29.8:0:0:79:70:24:chr2 g.5822930_5822931insTG (intergenic),chr2 g.5822930_5822931insTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 5832634 rs183761758 C A 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.906,A/0.09405;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,C:11:10:0:0:5,6:165,185:15.60,0.00:15.86,0.00:-0.26,0.00:0.93,0.00:0.99,0.00:0.64,0.00:60,60:67.8,42.2:0,0:0,0:73,62:78,87:34,22:NM_003108.3(SOX11) c.-55-u165C>A,-:0.08,-:NOT_FOUND,- 2 5832667 rs6721975 T C 75 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.07388,C/0.9261;PC=0.831 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:18:0:0:19:660:75.06:71.29:3.78:1.00:1.00:1.00:60:52.4:0:0:35:116:30:NM_003108.3(SOX11) c.-55-u132T>C,NM_003108.3(SOX11) c.-55-u132T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 5834180 . A . . NT END=6988439;NT GT ./. 2 5834249 rs3841075 G GTGA 76 nt VT=INS;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.6971,GTGA/0.3029;NP=64;PC=0.542;Gene=SOX11/NM_003108.3/1;CC=c.*86_*87insGAT;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTGA:82:26:27:0:55,27:1677,854:0.00,75.75:0.00,11.10:0.00,64.65:0.00,1.00:0.00,1.00:0.00,1.00:60,70:21.6,12.1:0,0:0,0:111,95:30,55:33,19:-,NM_003108.3(SOX11) c.*84_*86dupGAT:-,0.27:-,NOT_FOUND 2 5876302 rs2252087 G T 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6807,T/0.3193 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:153:17.68:11.92:5.77:1.00:1.00:1.00:60:37.2:0:0:92:59:42:chr2 g.5876301G>T (intergenic),chr2 g.5876301G>T (intergenic):0.31,0.31:NOT_FOUND,NOT_FOUND 2 6106584 rs11893368 A G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3193,G/0.6807;PC=0.002;Gene=LINC01105/NR_026832.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:118:13.70:2.57:11.13:1.00:1.00:1.00:60:53.0:0:0:62:87:11:NR_026832.1(LOC150622) n.236-2134A>G,NR_026832.1(LOC150622) n.236-2134A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 6416116 rs2350909 C T 15 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2408,T/0.7592;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:130:14.91:1.94:12.97:1.00:1.00:1.00:60:43.2:0:0:92:51:23:chr2 g.6416115C>T (intergenic),chr2 g.6416115C>T (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 2 6423605 . CGCGT T,C 7 idl;end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:57:T,C:4:2:0:2:2,2:70,58:7.35,6.15:1.84,1.59:5.51,4.56:0.51,0.00:0.79,0.00:0.51,0.00:60,60:162.0,17.5:2,0:0,0:75,7:58,101:8,0:chr2 g.6423605_6423608delCGCG (intergenic),chr2 g.6423606_6423609delGCGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 6423613 rs4993557 T C 12 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.108,C/0.892;NP=4;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:2:0:0:4:105:12.31:3.78:8.53:1.00:1.00:1.00:60:88.5:4:0:42:59:31:chr2 g.6423612T>C (intergenic),chr2 g.6423612T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 6423628 rs397743861 A ATG 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.273,ATG/0.727,ATGTG/.;DB;DBA=NA;PAF=A/0.273,ATG/0.727;NP=2;PC=0.002;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:ATG:4:2:4:0:4:132:15.11:3.83:11.28:1.00:1.00:1.00:60:89.8:0:0:57:44:31:chr2 g.6423628_6423629insTG (intergenic),chr2 g.6423628_6423629insTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 6501001 rs59832286 CGTGTGTGT C 6 sb;idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CGTGTGTGT,C:4:6:0:6:1,3:35,160:0.00,6.34:0.00,1.40:0.00,4.94:0.00,0.69:0.00,0.95:0.00,0.93:60,70:0.0,43.7:0,3:0,0:71,37:34,71:0,24:-,chr2 g.6501002_6501009delGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 6636424 rs35856990 G T 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4012,T/0.5988;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:G,T:16:4:0:0:5,11:160,350:0.00,35.93:0.00,7.07:0.00,28.85:0.00,1.00:0.00,0.99:0.00,1.00:60,60:3.2,43.8:0,0:0,0:108,101:43,50:23,41:-,chr2 g.6636423G>T (intergenic):-,0.6:-,NOT_FOUND 2 6636747 rs365528 T C 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.004992,C/0.995;NP=3369;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:16:0:0:18:597:68.28:53.22:15.06:1.00:1.00:1.00:60:41.7:0:0:83:68:41:chr2 g.6636746T>C (intergenic),chr2 g.6636746T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 6636940 rs7575577 C T 22 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5737,T/0.4263;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:4:0:0:9,8:290,231:0.00,21.79:0.00,1.17:0.00,20.62:0.00,0.99:0.00,0.92:0.00,1.00:60,60:13.1,43.2:0,0:0,0:129,114:19,35:15,34:-,chr2 g.6636939C>T (intergenic):-,0.45:-,NOT_FOUND 2 6636974 rs7592030 T C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5685,C/0.4315;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,T:8:0:0:0:4,4:104,136:9.87,0.00:0.00,0.00:9.87,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:56.2,0.0:0,0:0,0:102,85:49,64:35,36:chr2 g.6636973T>C (intergenic),-:0.45,-:NOT_FOUND,- 2 6643564 rs397810256 A AAC 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5056,AAC/0.4944;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=224;PC=0.041;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,AAC,D:4:5:3:1:1,2,1:34,102,32:0.00,6.74,2.88:0.00,3.37,2.93:0.00,3.37,-0.05:0.00,0.46,0.00:0.00,0.46,0.00:0.00,0.80,0.00:60,70,60:0.0,34.0,14.0:0,1,0:0,0,0:98,64,93:30,81,58:0,11,0:-,chr2 g.6643564_6643565insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 6977170 rs397817990 A AAC 9 sb,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=422;NP=8;PC=0.076;Gene=NRIR/NR_126359.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AAC:5:5:3:0:2,3:67,91:0.00,9.07:0.00,7.69:0.00,1.38:0.00,0.78:0.00,0.78:0.00,0.94:60,60:44.5,65.0:0,0:0,0:75,39:39,112:24,6:-,chr2 g.6977170_6977171insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 6990105 . C . . NT END=6990780;NT GT ./. 2 6991815 . C . . NT END=7001314;NT GT ./. 2 7001119 rs2712046 G A 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1008,A/0.8992;Gene=CMPK2/NM_001256478.1/0;CC=c.992+196C>T;VC=Intron;Gene=CMPK2/NM_207315.3/1;CC=c.992+196C>T;VC=Intron;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.992+196C>T;VC=Intron;DM=CMPK2/Thymidylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:273:31.12:31.12:0.00:1.00:1.00:0.00:60:45.9:0:0:104:46:23:NM_207315.3(CMPK2) c.992+196C>T,NM_207315.3(CMPK2) c.992+196C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 2 7001188 rs567453181 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=CMPK2/NM_001256478.1/0;CC=c.992+127T>C;VC=Intron;Gene=CMPK2/NM_207315.3/1;CC=c.992+127T>C;VC=Intron;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.992+127T>C;VC=Intron;DM=CMPK2/Thymidylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:13:13:0:0:8,5:262,172:0.00,15.82:0.00,14.15:0.00,1.68:0.00,0.91:0.00,0.91:0.00,0.68:60,60:42.8,74.0:0,0:0,0:41,21:109,129:32,5:-,NM_207315.3(CMPK2) c.992+127T>C:-,NOT_FOUND:-,NOT_FOUND 2 7001224 rs139571871 TACACACACACGC T 42 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=178;Gene=CMPK2/NM_001256478.1/0;CC=c.992+79_992+90delGCGTGTGTGTGT;VC=Intron;Gene=CMPK2/NM_207315.3/1;CC=c.992+79_992+90delGCGTGTGTGTGT;VC=Intron;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.992+79_992+90delGCGTGTGTGTGT;VC=Intron;DM=CMPK2/Thymidylate_kin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:TACACACACACGC,T:18:18:0:14:5,13:167,435:0.00,41.75:0.00,38.29:0.00,3.46:0.00,1.00:0.00,1.00:0.00,0.99:60,60:69.8,53.0:1,1:0,0:28,52:31,97:6,18:-,NM_207315.3(CMPK2) c.992+79_992+90delGCGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 7001259 rs551916301 C A 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.05331,A/0.9437;DB;DBA=NA;PAF=C/0.05331,CA/0.002995;NP=410;PC=0.001;Gene=CMPK2/NM_001256478.1/0;CC=c.992+56G>T;VC=Intron;Gene=CMPK2/NM_207315.3/1;CC=c.992+56G>T;VC=Intron;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.992+56G>T;VC=Intron;DM=CMPK2/Thymidylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:23:0:1:26:866:99.00:75.10:23.90:1.00:1.00:1.00:60:42.7:1:0:46:94:25:NM_207315.3(CMPK2) c.992+56G>T,NM_207315.3(CMPK2) c.992+56G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 7001517 . C . . NT END=7003594;NT GT ./. 2 7003710 . C . . NT END=7005152;NT GT ./. 2 7003879 rs2712039 G A 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.1092,A/0.8908;Gene=CMPK2/NM_001256478.1/0;CC=c.676-170C>T;VC=Intron;Gene=CMPK2/NM_207315.3/1;CC=c.676-170C>T;VC=Intron;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.676-170C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:0:0:0:14:406:47.13:0.00:47.13:1.00:0.00:1.00:60:60.4:0:0:114:35:36:NM_207315.3(CMPK2) c.676-170C>T,NM_207315.3(CMPK2) c.676-170C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 7003902 rs2712040 G A 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.05631,A/0.9437;Gene=CMPK2/NM_001256478.1/0;CC=c.676-193C>T;VC=Intron;Gene=CMPK2/NM_207315.3/1;CC=c.676-193C>T;VC=Intron;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.676-193C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:281:32.39:0.00:32.39:1.00:0.00:1.00:60:73.7:0:0:100:51:42:NM_207315.3(CMPK2) c.676-193C>T,NM_207315.3(CMPK2) c.676-193C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 7005069 rs2595172 C T 224 nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.0649,T/0.9351;Gene=CMPK2/NM_001256478.1/0;CC=c.675+84G>A;VC=Intron;Gene=CMPK2/NM_207315.3/1;CC=c.675+84G>A;VC=Intron;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.675+84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:T:63:60:0:0:63:1938:223.75:183.40:40.36:1.00:1.00:1.00:60:41.0:0:0:52:97:34:NM_207315.3(CMPK2) c.675+84G>A,NM_207315.3(CMPK2) c.675+84G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 7005369 rs11678810 A G 694 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=185;DB;DBA=NA;PAF=A/0.001997,G/0.998;NP=1087;PC=0.021;Gene=CMPK2/NM_001256478.1/0;CC=c.459T>C;ProtCh=p.C153=;VC=Silent;Gene=CMPK2/NM_207315.3/1;CC=c.459T>C;ProtCh=p.C153=;VC=Silent;Gene=CMPK2/NR_046236.1/0;VC=NonCoding;Gene=CMPK2/NM_001256477.1/0;CC=c.459T>C;ProtCh=p.C153=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:185:117:0:0:185:6057:693.59:326.40:367.19:1.00:1.00:1.00:60:40.0:0:0:63:82:37:NM_207315.3(CMPK2) c.459T>C (p.(=)),NM_207315.3(CMPK2) c.459T>C (p.(=)):1,1:0.996614,0.996614 2 7005951 . G . . NT END=7006556;NT GT ./. 2 7005992 rs4669108 C T 532 nt VT=SNV;PN=C;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.0633,T/0.9367;Gene=CMPK2/NR_046236.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:145:79:0:0:2,143:11,4651:0.08,532.30:0.08,198.43:0.00,333.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.5,40.7:0,0:0,0:85,91:65,56:30,31:NM_207315.3(CMPK2) c.-123-u42G>A,NM_207315.3(CMPK2) c.-123-u42G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 7006639 rs2595173 C A 197 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.0641,A/0.9359;PC=0.004;Gene=CMPK2/NR_046236.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:43:0:0:52:1722:196.99:104.41:92.58:1.00:1.00:1.00:60:38.0:0:0:85:58:24:NM_207315.3(CMPK2) c.-123-u689G>T,NM_207315.3(CMPK2) c.-123-u689G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 7006644 . c . . NT END=7017931;NT GT ./. 2 7017903 rs10182815 A G 233 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.04653,G/0.9535;PC=0.003;Gene=RSAD2/NM_080657.4/1;CC=c.-29A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:G,T:68:65:0:0:66,2:2027,29:233.19,1.10:194.41,1.10:38.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,99.0:0,0:0,0:45,111:102,40:22,15:NM_080657.4(RSAD2) c.-29A>G,NM_080657.4(RSAD2) c.-29A>G:0.97,0.97:0.955328,0.955328 2 7018278 . G . . NT END=7018924;NT GT ./. 2 7018881 rs4143154 C T 101 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.05112,T/0.9489;Gene=RSAD2/NM_080657.4/1;CC=c.346+604C>T;VC=Intron;DM=RSAD2/Radical_SAM;DM=RSAD2/Fer4_12;DM=RSAD2/Radical_SAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:23:0:0:28:877:101.01:69.36:31.65:1.00:1.00:1.00:60:33.5:0:0:42:107:35:NM_080657.4(RSAD2) c.346+604C>T,NM_080657.4(RSAD2) c.346+604C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 7019023 . c . . NT END=7023501;NT GT ./. 2 7019079 rs6704746 A G 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.1038,G/0.8962;PC=0.003;Gene=RSAD2/NM_080657.4/1;CC=c.346+802A>G;VC=Intron;DM=RSAD2/Radical_SAM;DM=RSAD2/Fer4_12;DM=RSAD2/Radical_SAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G,T:17:3:0:0:15,2:503,28:56.63,1.95:2.01,1.95:54.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,40.5:0,0:0,0:86,143:62,7:28,3:NM_080657.4(RSAD2) c.346+802A>G,NM_080657.4(RSAD2) c.346+802A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 7023664 . G . . NT END=7027065;NT GT ./. 2 7027296 . G . . NT END=7030306;NT GT ./. 2 7027323 rs9917321 T A 131 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.2646,A/0.7354;Gene=RSAD2/NM_080657.4/1;CC=c.738+28T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:7:0:0:35:1148:131.49:20.92:110.57:1.00:1.00:1.00:60:40.8:0:0:106:45:28:NM_080657.4(RSAD2) c.738+28T>A,NM_080657.4(RSAD2) c.738+28T>A:0.77,0.77:0.747347,0.747347 2 7030457 . G . . NT END=7033801;NT GT ./. 2 7033835 . G . . NT END=7035908;NT GT ./. 2 7035733 rs62108131 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9291,G/0.07089;Gene=RSAD2/NM_080657.4/1;CC=c.922-176A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:9:9:0:0:3,6:95,173:0.00,17.67:0.00,17.67:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:11.0,36.7:0,0:0,0:74,88:77,63:26,35:-,NM_080657.4(RSAD2) c.922-176A>G:-,0.07:-,NOT_FOUND 2 7036074 . A . . NT END=7137057;NT GT ./. 2 7136847 rs2924385 G T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4034,T/0.5966;PC=0.004;Gene=RNF144A/NM_014746.4/1;CC=c.-11-200G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:G,T:11:11:0:0:7,4:239,129:0.00,11.68:0.00,11.68:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:29.6,32.2:0,0:0,0:11,72:140,77:3,51:-,NM_014746.3(RNF144A) c.-11-200G>T:-,0.54:-,NOT_FOUND 2 7136883 rs536546948 C CA 42 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7596,CA/0.2404;DB;DBA=NA;PAF=C/0.7596,CA/0.2404;NP=151;PC=0.004;Gene=RNF144A/NM_014746.4/1;CC=c.-11-156_-11-155insA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:C,CA:19:19:13:0:6,13:180,406:0.00,41.66:0.00,41.66:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:37.8,32.0:1,0:0,0:49,33:102,118:15,21:-,NM_014746.3(RNF144A) c.-11-164_-11-163insA:-,NOT_FOUND:-,NOT_FOUND 2 7136926 rs11898648 C A 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7596,A/0.2404;PC=0.014;Gene=RNF144A/NM_014746.4/1;CC=c.-11-121C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:31:30:0:0:23,8:710,253:74.24,0.00:69.76,0.00:4.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.7,21.1:0,0:0,0:54,27:96,123:28,27:NM_014746.3(RNF144A) c.-11-121C>A,-:0.26,-:NOT_FOUND,- 2 7137067 rs364891 A G 359 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.1581,G/0.8419;PC=1.000;Gene=RNF144A/NM_014746.4/1;CC=c.10A>G;ProtCh=p.T4A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:75:0:0:92:3154:359.23:202.41:156.82:1.00:1.00:1.00:60:40.3:0:0:57:79:34:NM_014746.3(RNF144A) c.10A>G (p.Thr4Ala),NM_014746.3(RNF144A) c.10A>G (p.Thr4Ala):0.81,0.81:0.81424,0.81424 2 7137193 . G . . NT END=7154584;NT GT ./. 2 7137317 rs378548 G A 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8201,A/0.1799;Gene=RNF144A/NM_014746.4/1;CC=c.135+125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:6,11:207,333:18.78,0.00:0.00,0.00:18.78,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:47.7,20.8:0,0:0,0:75,99:75,33:28,41:NM_014746.3(RNF144A) c.135+125G>A,-:0.17,-:NOT_FOUND,- 2 7154632 rs309325 T C 198 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=3467;PC=0.746;Gene=RNF144A/NM_014746.4/1;CC=c.183T>C;ProtCh=p.T61=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C:55:46:0:0:55:1715:197.50:122.91:74.60:1.00:1.00:1.00:60:39.8:0:0:68:75:27:NM_014746.3(RNF144A) c.183T>C (p.(=)),NM_014746.3(RNF144A) c.183T>C (p.(=)):1,1:NOT_FOUND,NOT_FOUND 2 7154690 . G . . NT END=7154842;NT GT ./. 2 7154826 rs556538791 AT A 48 rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=256;Gene=RNF144A/NM_014746.4/1;CC=c.241-8delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:40:15:1:17:22,1,17:696,31,512:0.00,1.74,47.71:0.00,1.92,13.30:0.00,-0.18,34.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.4,0.0,15.6:0,0,0:0,0,0:70,12,83:78,139,68:27,0,38:-,NM_014746.3(RNF144A) c.241-16delT:-,NOT_FOUND:-,NOT_FOUND 2 7154904 . G . . NT END=7160603;NT GT ./. 2 7160490 rs309306 C T 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4968,T/0.5032;PC=0.023;Gene=RNF144A/NM_014746.4/1;CC=c.302-114C>T;VC=Intron;DM=RNF144A/IBR;DM=RNF144A/IBR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:22:0:0:11,12:341,337:0.00,32.50:0.00,29.53:0.00,2.98:0.00,1.00:0.00,1.00:0.00,0.81:60,60:11.7,45.4:0,0:0,0:62,25:89,126:20,23:-,NM_014746.3(RNF144A) c.302-114C>T:-,0.46:-,NOT_FOUND 2 7160812 . G . . NT END=7164499;NT GT ./. 2 7164325 rs397869527 AT A 14 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=AT/0.727,A/0.273;NP=207;Gene=RNF144A/NM_014746.4/1;CC=c.510-165delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:AT,A:10:10:0:5:5,5:159,151:0.00,14.47:0.00,14.47:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:41.8,44.8:0,0:0,0:55,37:96,112:21,9:-,NM_014746.3(RNF144A) c.510-174delT:-,NOT_FOUND:-,NOT_FOUND 2 7164330 rs115452094 T C 13 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.727,C/0.273;NP=1;Gene=RNF144A/NM_014746.4/1;CC=c.510-170T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,T:10:10:0:0:4,6:139,152:12.91,0.00:12.91,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:37.5,47.2:4,1:0,0:36,63:113,88:5,23:NM_014746.3(RNF144A) c.510-170T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 7164483 rs6709878 C T 144 nt VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.488,T/0.512;Gene=RNF144A/NM_014746.4/1;CC=c.510-17C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:98:90:0:0:51,47:1681,1507:0.00,143.66:0.00,111.12:0.00,32.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.1,39.5:0,0:0,0:74,32:77,118:28,21:-,NM_014746.3(RNF144A) c.510-17C>T:-,0.47:-,0.371136 2 7164578 rs376219 A G 210 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.7356,G/0.2644;PC=0.983;Gene=RNF144A/NM_014746.4/1;CC=c.588A>G;ProtCh=p.E196=;VC=Silent;DM=RNF144A/IBR;DM=RNF144A/IBR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:147:106:0:0:80,67:2624,2217:0.00,209.65:0.00,106.78:0.00,102.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,39.2:0,0:0,0:62,71:79,79:33,34:-,NM_014746.3(RNF144A) c.588A>G (p.(=)):-,0.25:-,0.30263 2 7164648 . G . . NT END=7170256;NT GT ./. 2 7164746 rs392709 C G 82 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.7372,G/0.2628;Gene=RNF144A/NM_014746.4/1;CC=c.657+99C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:51:7:0:0:25,26:815,852:0.00,82.26:0.00,10.98:0.00,71.28:0.00,1.00:0.00,0.99:0.00,1.00:60,60:5.4,58.1:0,0:0,0:98,87:53,62:25,25:-,NM_014746.3(RNF144A) c.657+99C>G:-,0.24:-,NOT_FOUND 2 7164812 rs392409 C G 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7672,G/0.2328;Gene=RNF144A/NM_014746.4/1;CC=c.657+165C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:0:0:0:13,14:401,461:0.00,44.66:0.00,0.00:0.00,44.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.6,69.0:0,0:0,0:130,94:20,56:14,33:-,NM_014746.3(RNF144A) c.657+165C>G:-,0.23:-,NOT_FOUND 2 7170157 rs145818266 TATC T 13 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=TATC/0.9493,T/0.05072;NP=328;Gene=RNF144A/NM_014746.4/1;CC=c.658-97_658-95delCAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:TATC,T:15:15:0:5:10,5:291,150:0.00,13.25:0.00,13.34:0.00,-0.09:0.00,0.89:0.00,0.89:0.00,0.56:60,60:15.6,7.8:0,0:0,0:46,97:104,54:15,4:-,NM_014746.3(RNF144A) c.658-99_658-97delATC:-,0.04:-,NOT_FOUND 2 7170347 . G . . NT END=7179759;NT GT ./. 2 7170388 . CTGTGTGTGTGTGTG C 24 idl,nt VT=DEL;SST=Single;DP=34;NP=4;PC=0.450;Gene=RNF144A/NM_014746.4/1;CC=c.747+78_747+91delGTGTGTGTGTGTGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CTGTGTGTGTGTGTG,G,C:28:16:0:16:1,16,1,10:11,531,10,467:0.09,0.00,0.04,23.92:0.22,0.00,-0.08,3.71:-0.13,0.00,0.12,20.21:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,70:11.0,17.9,92.0,22.7:0,0,0,6:0,0,0,0:123,125,109,74:28,25,22,74:0,18,0,21:-,NM_014746.3(RNF144A) c.747+43_747+56delTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 7179961 rs72783732 C T 172 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.9407,T/0.05931;PC=0.003;Gene=RNF144A/NM_014746.4/1;CC=c.*70C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:130:76:0:0:70,60:2232,1822:0.00,171.82:0.00,76.36:0.00,95.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,43.3:0,0:0,0:74,95:75,52:37,26:-,NM_014746.3(RNF144A) c.*70C>T:-,0.04:-,NOT_FOUND 2 7181486 rs309304 A G 157 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.3674,G/0.6326;Gene=RNF144A/NM_014746.4/1;CC=c.*1595A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:55:0:0:48,49:1516,1625:0.00,156.64:0.00,71.39:0.00,85.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,38.1:0,0:0,0:74,50:71,92:50,34:-,NM_014746.3(RNF144A) c.*1595A>G:-,0.59:-,NOT_FOUND 2 7182177 rs309302 G A 360 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.2286,A/0.7714;Gene=RNF144A/NM_014746.4/1;CC=c.*2286G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:99:58:0:0:98,1:3138,6:359.89,0.03:162.58,0.00:197.31,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,107.0:0,0:0,0:75,14:73,137:38,0:NM_014746.3(RNF144A) c.*2286G>A,NM_014746.3(RNF144A) c.*2286G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 7182533 rs55943761 T C 177 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.9407,C/0.05931;Gene=RNF144A/NM_014746.4/1;CC=c.*2642T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:117:64:0:1:54,63:1859,1966:176.62,0.00:78.49,0.00:98.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.0,6.3:0,0:0,0:76,69:74,81:35,41:NM_014746.3(RNF144A) c.*2642T>C,-:0.04,-:NOT_FOUND,- 2 7182534 rs55977534 A T 163 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.9407,T/0.05931;Gene=RNF144A/NM_014746.4/1;CC=c.*2643A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:117:63:0:1:64,53:1944,1726:0.00,162.91:0.00,66.11:0.00,96.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,71.5:0,0:0,0:71,81:79,70:37,31:-,NM_014746.3(RNF144A) c.*2643A>T:-,0.04:-,NOT_FOUND 2 7182817 rs55688218 T C 155 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.9407,C/0.05931;Gene=RNF144A/NM_014746.4/1;CC=c.*2926T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:109:61:0:0:49,1,59:1641,12,1812:155.19,-0.09,0.00:57.78,-0.10,0.00:97.41,0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.2,245.0,12.1:0,0,0:0,0,0:72,69,89:71,82,61:33,0,36:NM_014746.3(RNF144A) c.*2926T>C,-:0.04,-:NOT_FOUND,- 2 7182919 rs17668045 C A 112 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.9407,A/0.05931;Gene=RNF144A/NM_014746.4/1;CC=c.*3028C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:82:39:0:0:38,44:1185,1389:112.06,0.00:41.08,0.00:70.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:79.9,11.7:0,0:0,0:75,74:74,69:37,31:NM_014746.3(RNF144A) c.*3028C>A,-:0.04,-:NOT_FOUND,- 2 7182946 rs74555163 T C 125 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.9407,C/0.05931;Gene=RNF144A/NM_014746.4/1;CC=c.*3055T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:43:0:0:39,42:1311,1244:125.40,0.00:59.01,0.00:66.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.5,11.3:0,0:0,0:71,95:71,53:39,28:NM_014746.3(RNF144A) c.*3055T>C,-:0.04,-:NOT_FOUND,- 2 7183014 . t . . NT END=7183278;NT GT ./. 2 7183214 rs144935141 C G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9409,G/0.05911;Gene=RNF144A/NM_014746.4/1;CC=c.*3323C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:31:0:0:22,15:746,515:0.00,47.81:0.00,38.85:0.00,8.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,35.6:0,0:0,0:69,49:81,101:35,34:-,NM_014746.3(RNF144A) c.*3323C>G:-,0.04:-,NOT_FOUND 2 7183787 rs17668081 G A 123 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.9401,A/0.0599;Gene=RNF144A/NM_014746.4/1;CC=c.*3896G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:63:0:0:39,55:1319,1752:122.82,0.00:67.68,0.00:55.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.9,4.8:0,0:0,0:85,71:65,79:31,39:NM_014746.3(RNF144A) c.*3896G>A,-:0.05,-:NOT_FOUND,- 2 7183977 rs1050563 G A 108 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.9407,A/0.05931;PC=1.000;Gene=RNF144A/NM_014746.4/1;CC=c.*4086G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:49:0:0:36,38:1128,1201:107.69,0.00:59.17,0.00:48.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,11.2:0,0:0,0:66,68:84,82:36,27:NM_014746.3(RNF144A) c.*4086G>A,-:0.04,-:NOT_FOUND,- 2 7184311 . C . . NT END=7208346;NT GT ./. 2 7192969 rs397730320 A AACAC 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4531,AAC/0.5469,AACAC/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.4531,AAC/0.5469;NP=1;NP=10;NP=307;PC=0.008;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,AACAC:4:4:4:0:1,3:22,131:0.00,10.07:0.00,4.99:0.00,5.08:0.00,0.78:0.00,0.97:0.00,0.87:60,60:26.0,12.3:0,1:0,0:149,79:1,64:0,28:-,chr2 g.7192969_7192970insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 7208324 rs1869298 G T 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6246,A/.,T/0.3754;PC=0.005;Gene=LOC101929452/NR_110252.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:22:0:0:16,11:524,327:0.00,30.00:0.00,23.96:0.00,6.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,65.6:0,0:0,0:58,36:92,107:28,25:-,chr2 g.7208323G>T (intergenic):-,0.35:-,NOT_FOUND 2 7208407 . G . . NT END=8822295;NT GT ./. 2 7208422 rs1869297 T C 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6258,C/0.3742;PC=0.002;Gene=LOC101929452/NR_110252.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:17:0:0:11,11:378,364:36.43,0.00:17.08,0.00:19.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.7,8.3:0,0:0,0:96,102:55,44:11,23:chr2 g.7208421T>C (intergenic),-:0.35,-:NOT_FOUND,- 2 7421557 rs4668533 C G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2372,G/0.7628 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,G:4:3:0:0:2,2:65,71:0.00,6.85:0.00,3.58:0.00,3.27:0.00,0.51:0.00,0.89:0.00,0.51:60,60:0.0,35.5:0,0:0,0:43,62:96,72:41,39:-,chr2 g.7421556C>G (intergenic):-,0.74:-,NOT_FOUND 2 7471480 . TCA T 8 rn VT=DEL;SST=Single;DP=9;NP=7;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:TCA,T:9:8:0:3:6,3:199,90:0.00,7.94:0.00,3.68:0.00,4.26:0.00,0.64:0.00,0.94:0.00,0.92:60,60:17.8,46.3:0,0:0,0:85,38:59,101:24,0:-,chr2 g.7471481_7471482delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 7805753 rs59347084 CCACACA C 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CCACACA,C:3:3:0:3:1,2:33,100:0.00,6.65:0.00,6.95:0.00,-0.30:0.00,0.51:0.00,0.89:0.00,0.67:33,60:0.0,24.0:0,1:0,0:104,37:40,95:0,19:-,chr2 g.7805754_7805759delCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 8010821 rs80006601 A ATGTGTG 11 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=11;NP=16;NP=24;NP=9;PC=0.060;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:ATGTGTG:3:3:5:0:3:157:10.86:7.11:3.75:0.78:0.94:0.97:60:0.0:2:0:31:70:23:chr2 g.8010821_8010822insTGTGTG (intergenic),chr2 g.8010821_8010822insTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 8114580 rs147925511 T TAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4189,TAC/0.5811;DB;DBA=NA;PAF=T/0.4189,TAC/0.5811,TACAC/.;NP=11;NP=268;Gene=LINC00298/NR_015405.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:T,TAC:3:4:3:0:1,2:34,100:0.00,6.65:0.00,3.33:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,52.0:0,1:0,0:77,40:28,68:0,34:-,NR_015405.1(LOC339788) n.106+2259_106+2260insGT:-,NOT_FOUND:-,NOT_FOUND 2 8114608 rs193926 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5072,C/0.4928;Gene=LINC00298/NR_015405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:142:16.11:10.04:6.07:1.00:1.00:1.00:60:35.5:0:0:55:54:27:NR_015405.1(LOC339788) n.106+2232C>G,NR_015405.1(LOC339788) n.106+2232C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 8227151 . TTTCACA T 6 nt VT=DEL;SST=Single;DP=4;Gene=LINC00299/NR_034135.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:TTTCACA,T:4:3:0:2:2,2:45,67:0.00,6.46:0.00,5.03:0.00,1.44:0.00,0.51:0.00,0.89:0.00,0.79:60,70:63.0,72.5:1,0:0,0:59,25:91,99:27,12:-,NR_034135.1(LINC00299) n.954-26622_954-26617delTGTGAA:-,NOT_FOUND:-,NOT_FOUND 2 8227194 rs1833929 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3674,C/0.6326;NP=114;PC=0.025;Gene=LINC00299/NR_034135.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,C:4:3:0:0:2,2:42,71:0.00,6.87:0.00,5.28:0.00,1.59:0.00,0.51:0.00,0.89:0.00,0.79:60,70:63.0,72.5:0,0:0,0:101,62:49,62:28,12:-,NR_034135.1(LINC00299) n.954-26659T>G:-,NOT_FOUND:-,NOT_FOUND 2 8311671 rs146419964 ATG A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=103;Gene=LINC00299/NR_034135.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:ATG,A:4:3:0:2:2,2:54,67:0.00,6.45:0.00,1.29:0.00,5.16:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,0.0:0,0:0,0:133,40:17,109:14,0:-,NR_034135.1(LINC00299) n.954-111138_954-111137delCA:-,NOT_FOUND:-,NOT_FOUND 2 8491701 rs56910798 T TAC 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=154;NP=3;NP=55;NP=6;PC=0.002;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:T,TAC,D:6:6:5:1:1,4,1:34,163,18:0.00,13.47,1.37:0.00,5.22,0.69:0.00,8.25,0.69:0.00,0.90,0.00:0.00,0.99,0.00:0.00,0.99,0.00:60,70,18:0.0,3.2,0.0:0,1,0:0,0,0:127,76,11:23,51,84:0,23,0:-,chr2 g.8491701_8491702insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 8743476 rs12692363 G C 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.609,C/0.391;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:2:0:0:10:349:39.67:4.03:35.64:1.00:1.00:1.00:60:34.9:0:0:85:66:31:chr2 g.8743475G>C (intergenic),chr2 g.8743475G>C (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 2 8763017 rs73912885 G GAC 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,G,GAC:5:4:2:0:1,2,2:14,60,68:0.99,0.00,6.51:-0.19,0.00,4.78:1.18,0.00,1.74:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.70:40,60,60:205.0,2.5,24.5:0,0,0:0,0,0:110,135,86:32,15,64:0,11,9:-,chr2 g.8763017_8763018insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 8822644 . G . . NT END=8822972;NT GT ./. 2 8822892 . CA C 9 idl,rn VT=DEL;SST=Single;DP=23;NP=1;Gene=ID2/NM_002166.4/1;CC=c.349-56delA;VC=Intron;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:CA,I,C:21:23:1:6:16,1,4:538,33,186:0.00,2.11,9.35:0.00,2.13,9.43:0.00,-0.02,-0.08:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.43:60,60,60:36.3,59.0,68.5:0,0,2:0,0,0:35,79,64:115,72,84:27,0,9:-,NM_002166.4(ID2) c.349-80delA:-,NOT_FOUND:-,NOT_FOUND 2 8822912 rs3845751 A C,AC 54 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:115:A,C,AC:24:19:5:0:2,17,5:36,497,145:0.00,54.16,13.28:0.00,37.24,8.54:0.00,16.91,4.74:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,56.6,25.6:0,0,0:0,0,0:58,34,47:78,101,103:26,22,19:NM_002166.4(ID2) c.349-61A>C,NM_002166.4(ID2) c.349-61_349-60insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 8823030 . A . . NT END=8867022;NT GT ./. 2 8823160 rs140172462 G T 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;PC=0.411;Gene=ID2/NM_002166.4/1;CC=c.*7+124G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,T:8:0:0:0:2,6:68,200:0.00,20.91:0.00,0.00:0.00,20.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.0,36.7:0,0:0,0:114,87:36,63:1,28:-,NM_002166.4(ID2) c.*7+124G>T:-,0.0005:-,NOT_FOUND 2 8839548 rs60692986 GGTGTGTGT G 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GGTGTGTGT/0.2322,G/0.7678;DB;DBA=NA;PAF=GGTGTGTGT/0.2322,G/0.7678;NP=41;PC=0.664;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GGTGTGTGT,G:5:3:0:2:3,2:67,68:0.00,6.30:0.00,3.04:0.00,3.27:0.00,0.46:0.00,0.80:0.00,0.70:60,60:4.3,6.5:0,0:0,0:106,52:45,94:3,7:-,chr2 g.8839549_8839556delGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 8866844 rs13024421 C G 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7304,G/0.2696;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:299:34.19:34.19:0.00:1.00:1.00:0.00:60:37.0:0:0:49:102:33:chr2 g.8866843C>G (intergenic),chr2 g.8866843C>G (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 2 8867074 . C . . NT END=8867317;NT GT ./. 2 8867398 . C . . NT END=8868986;NT GT ./. 2 8870814 rs6431959 A G 517 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=A/0.04633,G/0.9537;PC=0.003;Gene=KIDINS220/NM_020738.2/1;CC=c.*36T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:141:72:0:0:1,139,1:13,4519,8:0.14,517.22,0.04:0.14,203.32,0.04:0.00,313.90,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:199.0,40.3,148.0:0,0,0:0,0,0:3,88,84:148,61,65:0,31,0:NM_020738.2(KIDINS220) c.=,NM_020738.2(KIDINS220) c.=:0.95,0.95:0.950238,0.950238 2 8871342 rs1044280 C A 589 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=165;DB;DBA=NA;PAF=C/0.765,A/0.235;PC=0.067;Gene=KIDINS220/NM_020738.2/1;CC=c.4824G>T;ProtCh=p.Q1608H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:165:100:0:0:163,1,1:5142,10,9:589.34,0.00,0.05:282.21,0.00,0.05:307.13,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,153.0,102.0:0,0,0:0,0,0:83,78,84:67,73,67:35,0,0:NM_020738.2(KIDINS220) c.4824G>T (p.Gln1608His),NM_020738.2(KIDINS220) c.4824G>T (p.Gln1608His):0.23,0.23:0.248633,0.248633 2 8872113 . C . . NT END=8873573;NT GT ./. 2 8873811 . C . . NT END=8874784;NT GT ./. 2 8874884 . C . . NT END=8876997;NT GT ./. 2 8877130 . C . . NT END=8880281;NT GT ./. 2 8880315 . C . . NT END=8887274;NT GT ./. 2 8887332 . C . . NT END=8888016;NT GT ./. 2 8888131 . C . . NT END=8890241;NT GT ./. 2 8890466 . C . . NT END=8891595;NT GT ./. 2 8891775 . C . . NT END=8897327;NT GT ./. 2 8897918 . C . . NT END=8910799;NT GT ./. 2 8898036 rs6750682 A G 113 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.7316,G/0.2684;PC=0.698;Gene=KIDINS220/NM_020738.2/1;CC=c.3012-6262T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:30:0:0:0:30:984:112.71:0.00:112.71:1.00:0.00:1.00:60:55.9:0:0:77:73:38:NM_020738.2(KIDINS220) c.3012-6262T>C,NM_020738.2(KIDINS220) c.3012-6262T>C:0.26,0.26:NOT_FOUND,NOT_FOUND 2 8898089 rs4669336 A T 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.03095,T/0.969;PC=0.963;Gene=KIDINS220/NM_020738.2/1;CC=c.3012-6315T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:0:0:0:19:604:69.42:0.00:69.42:1.00:0.00:1.00:60:67.0:0:0:103:47:18:NM_020738.2(KIDINS220) c.3012-6315T>A,NM_020738.2(KIDINS220) c.3012-6315T>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 8910717 rs10929557 T C 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7326,C/0.2674;PC=0.002;Gene=KIDINS220/NM_020738.2/1;CC=c.3011+83A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:16:0:0:19:530:61.95:52.76:9.19:1.00:1.00:1.00:60:43.8:0:0:51:100:35:NM_020738.2(KIDINS220) c.3011+83A>G,NM_020738.2(KIDINS220) c.3011+83A>G:0.26,0.26:NOT_FOUND,NOT_FOUND 2 8910736 rs144280481 GT G 30 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GT/0.5867,G/0.4133;NP=129;PC=0.197;Gene=KIDINS220/NM_020738.2/1;CC=c.3011+63delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:GT,G:15:14:0:12:5,10:137,331:0.00,30.50:0.00,19.90:0.00,10.60:0.00,1.00:0.00,1.00:0.00,0.99:60,60:42.2,42.7:0,1:0,0:80,31:71,120:45,11:-,NM_020738.2(KIDINS220) c.3011+63delA:-,NOT_FOUND:-,NOT_FOUND 2 8910963 . C . . NT END=8916877;NT GT ./. 2 8910987 rs12476359 A T 126 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.01937,T/0.9806;Gene=KIDINS220/NM_020738.2/1;CC=c.2849-25T>A;VC=Intron;DM=KIDINS220/KAP_NTPase;DM=KIDINS220/KAP_NTPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:T:34:14:0:0:34:1097:125.91:32.20:93.71:1.00:1.00:1.00:60:37.8:0:0:101:49:26:NM_020738.2(KIDINS220) c.2849-25T>A,NM_020738.2(KIDINS220) c.2849-25T>A:0.88,0.88:0.978829,0.978829 2 8916847 rs4669338 A T 180 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.05152,T/0.9485;Gene=KIDINS220/NM_020738.2/1;CC=c.2848+31T>A;VC=Intron;DM=KIDINS220/KAP_NTPase;DM=KIDINS220/KAP_NTPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:T:49:44:0:0:49:1570:180.30:144.91:35.39:1.00:1.00:1.00:60:39.5:0:0:37:100:29:NM_020738.2(KIDINS220) c.2848+31T>A,NM_020738.2(KIDINS220) c.2848+31T>A:0.95,0.95:0.943251,0.943251 2 8917023 . C . . NT END=8918768;NT GT ./. 2 8918858 . C . . NT END=8919025;NT GT ./. 2 8919270 . C . . NT END=8919803;NT GT ./. 2 8919945 . C . . NT END=8925870;NT GT ./. 2 8926161 . C . . NT END=8926335;NT GT ./. 2 8926488 . C . . NT END=8928776;NT GT ./. 2 8928943 . C . . NT END=8930009;NT GT ./. 2 8930190 . C . . NT END=8931189;NT GT ./. 2 8931355 . C . . NT END=8933939;NT GT ./. 2 8934118 . C . . NT END=8936900;NT GT ./. 2 8937000 . C . . NT END=8938331;NT GT ./. 2 8938431 . C . . NT END=8940529;NT GT ./. 2 8940629 . C . . NT END=8943059;NT GT ./. 2 8943258 . C . . NT END=8946400;NT GT ./. 2 8943291 rs2356658 G A 175 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.00619,A/0.9938;NP=3246;Gene=KIDINS220/NM_020738.2/1;CC=c.604-34C>T;VC=Intron;DM=KIDINS220/KAP_NTPase;DM=KIDINS220/Ank_2;DM=KIDINS220/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:15:0:0:50:1515:175.16:29.23:145.93:1.00:1.00:1.00:60:38.7:0:0:105:42:26:NM_020738.2(KIDINS220) c.604-34C>T,NM_020738.2(KIDINS220) c.604-34C>T:0.99,0.99:0.993368,0.993368 2 8946500 . C . . NT END=8952524;NT GT ./. 2 8946745 rs12472126 C T 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8167,T/0.1833;Gene=KIDINS220/NM_020738.2/1;CC=c.505-246G>A;VC=Intron;DM=KIDINS220/Ank_2;DM=KIDINS220/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:1:0:0:10:326:37.37:3.78:33.59:1.00:1.00:1.00:60:32.6:0:0:71:79:37:NM_020738.2(KIDINS220) c.505-246G>A,NM_020738.2(KIDINS220) c.505-246G>A:0.19,0.19:NOT_FOUND,NOT_FOUND 2 8952627 . C . . NT END=8953366;NT GT ./. 2 8953466 . C . . NT END=8957747;NT GT ./. 2 8953644 rs17631263 A C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7514,C/0.2486;PC=0.005;Gene=KIDINS220/NM_020738.2/1;CC=c.307-179T>G;VC=Intron;DM=KIDINS220/Ank_2;DM=KIDINS220/Ank_2;DM=KIDINS220/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:243:27.64:0.00:27.64:1.00:0.00:1.00:60:39.1:0:0:115:36:9:NM_020738.2(KIDINS220) c.307-179T>G,NM_020738.2(KIDINS220) c.307-179T>G:0.24,0.24:NOT_FOUND,NOT_FOUND 2 8957847 . C . . NT END=8958824;NT GT ./. 2 8958924 . C . . NT END=8967115;NT GT ./. 2 8967224 . T . . NT END=8998808;NT GT ./. 2 8998624 rs10929559 A G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.01797,G/0.982;PC=1.000;Gene=MBOAT2/NM_138799.2/1;CC=c.*185T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:35.2:0:0:61:88:25:NM_138799.2(MBOAT2) c.=,NM_138799.2(MBOAT2) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 2 8998775 rs35543955 CA C 8 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=145;PC=0.039;Gene=MBOAT2/NM_138799.2/1;CC=c.*33delT;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:CA,I,C:26:26:4:3:20,3,3:640,129,100:0.00,7.25,7.55:0.00,3.19,6.21:0.00,4.06,1.33:0.00,0.00,0.44:0.00,0.00,0.88:0.00,0.00,0.56:60,60,60:11.4,3.3,0.0:0,1,0:0,0,0:31,13,76:106,137,75:29,3,28:-,NM_138799.2(MBOAT2) c.*22T[11]:-,NOT_FOUND:-,NOT_FOUND 2 8999035 . C . . NT END=9000742;NT GT ./. 2 9000895 . C . . NT END=9002400;NT GT ./. 2 9002453 . C . . NT END=9002719;NT GT ./. 2 9002853 . C . . NT END=9004299;NT GT ./. 2 9004365 . C . . NT END=9008575;NT GT ./. 2 9008680 . C . . NT END=9013237;NT GT ./. 2 9013431 . C . . NT END=9017159;NT GT ./. 2 9017344 . C . . NT END=9022640;NT GT ./. 2 9022696 . C . . NT END=9028147;NT GT ./. 2 9028204 . C . . NT END=9048750;NT GT ./. 2 9048847 . C . . NT END=9083315;NT GT ./. 2 9083394 . C . . NT END=9098625;NT GT ./. 2 9098772 . C . . NT END=9143668;NT GT ./. 2 9143744 . g . . NT END=9347233;NT GT ./. 2 9278563 rs35375807 CAG C 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CAG/0.365,C/0.635;DB;DBA=NA;PAF=CAG/0.365,C/0.635;NP=226;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:CAG,C:4:4:0:5:2,2:57,67:0.00,6.45:0.00,3.07:0.00,3.38:0.00,0.51:0.00,0.51:0.00,0.89:60,70:13.5,0.0:0,0:0,0:79,109:18,32:68,29:-,chr2 g.9278564_9278565delAG (intergenic):-,0.65:-,NOT_FOUND 2 9347360 . G . . NT END=9419445;NT GT ./. 2 9411441 rs11682874 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.895,A/0.105;PC=0.998;Gene=ASAP2/NM_001135191.1/0;CC=c.127-8005G>A;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.127-8005G>A;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,G:16:13:0:0:5,11:166,330:14.69,0.00:11.80,0.00:2.88,0.00:0.88,0.00:0.98,0.00:0.84,0.00:60,60:37.8,1.1:0,0:0,0:16,50:135,101:7,22:NM_003887.2(ASAP2) c.127-8005G>A,-:0.12,-:NOT_FOUND,- 2 9411732 rs7600853 T G 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.8456,G/0.1544;PC=0.972;Gene=ASAP2/NM_001135191.1/0;CC=c.127-7714T>G;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.127-7714T>G;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:22:12:0:0:12,10:385,298:37.63,0.00:15.36,0.00:22.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.2,2.3:0,0:0,0:106,120:44,21:26,21:NM_003887.2(ASAP2) c.127-7714T>G,-:0.16,-:NOT_FOUND,- 2 9419411 rs10193043 G A 95 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8684,A/0.1316,C/.;PC=0.001;Gene=ASAP2/NM_001135191.1/0;CC=c.127-35G>A;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.127-35G>A;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:23:0:0:26:828:95.19:72.58:22.61:1.00:1.00:1.00:60:49.8:0:0:46:103:37:NM_003887.2(ASAP2) c.127-35G>A,NM_003887.2(ASAP2) c.127-35G>A:0.71,0.71:0.754729,0.754729 2 9419415 rs10170149 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4521,T/0.5479;Gene=ASAP2/NM_001135191.1/0;CC=c.127-31C>T;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.127-31C>T;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:26:23:0:0:1,15,10:10,493,333:0.05,0.00,30.76:0.12,0.00,26.66:-0.08,0.00,4.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:74.0,36.4,66.9:0,0,0:0,0,0:49,55,41:102,93,108:0,41,28:-,NM_003887.2(ASAP2) c.127-31C>T:-,0.56:-,0.535676 2 9419519 . G . . NT END=9437428;NT GT ./. 2 9437575 . G . . NT END=9458652;NT GT ./. 2 9437857 rs62121305 T G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7945,G/0.2055;PC=0.001;Gene=ASAP2/NM_001135191.1/0;CC=c.345+283T>G;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.345+283T>G;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:G,T:6:0:0:0:3,3:78,94:7.40,0.00:0.00,0.00:7.40,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:71.0,4.7:0,0:0,0:108,143:43,8:28,4:NM_003887.2(ASAP2) c.345+283T>G,-:0.22,-:NOT_FOUND,- 2 9458460 rs3811599 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7887,G/0.2113;Gene=ASAP2/NM_001135191.1/0;CC=c.346-193A>G;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.346-193A>G;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,G,T:6:6:0:0:2,3,1:47,67,14:0.00,6.61,0.95:0.00,6.61,0.95:0.00,0.00,0.00:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.00,0.00:60,60,60:5.0,51.3,14.0:0,0,0:0,0,0:41,52,69:110,98,82:15,35,0:-,NM_003887.2(ASAP2) c.346-193A>G:-,0.22:-,NOT_FOUND 2 9458728 . G . . NT END=9460416;NT GT ./. 2 9460234 rs17522163 G A 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8922,A/0.1078;Gene=ASAP2/NM_001135191.1/0;CC=c.421-183G>A;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.421-183G>A;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:8:8:0:0:5,3:157,99:15.79,0.00:15.79,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:35.2,0.0:0,0:0,0:52,76:99,75:28,20:NM_003887.2(ASAP2) c.421-183G>A,-:0.13,-:NOT_FOUND,- 2 9460467 . G . . NT END=9463249;NT GT ./. 2 9462949 rs10210653 A C 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6272,C/0.3728;Gene=ASAP2/NM_001135191.1/0;CC=c.471-301A>C;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.471-301A>C;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,C:4:4:0:0:1,3:34,75:0.00,7.95:0.00,7.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,98.3:0,0:0,0:13,57:138,92:0,5:-,NM_003887.2(ASAP2) c.471-301A>C:-,0.36:-,NOT_FOUND 2 9463380 . G . . NT END=9467954;NT GT ./. 2 9463454 rs12475160 C T 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.3808,T/0.6192;Gene=ASAP2/NM_001135191.1/0;CC=c.600+75C>T;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.600+75C>T;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:14:0:0:22,38:634,1241:0.00,125.07:0.00,24.14:0.00,100.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,38.4:1,0:0,0:115,121:31,28:26,19:-,NM_003887.2(ASAP2) c.600+75C>T:-,0.63:-,NOT_FOUND 2 9463635 rs13384605 T C 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6284,C/0.3716;Gene=ASAP2/NM_001135191.1/0;CC=c.600+256T>C;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.600+256T>C;VC=Intron;DM=ASAP2/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:0:0:0:2,3:70,99:6.49,0.00:0.00,0.00:6.49,0.00:0.46,0.00:0.00,0.00:0.46,0.00:60,60:35.0,0.0:0,0:0,0:130,110:20,40:10,25:NM_003887.2(ASAP2) c.600+256T>C,-:0.36,-:NOT_FOUND,- 2 9468041 . G . . NT END=9474866;NT GT ./. 2 9474943 . G . . NT END=9475221;NT GT ./. 2 9475309 . G . . NT END=9484660;NT GT ./. 2 9475337 rs4392227 A G 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.8858,G/0.1142;Gene=ASAP2/NM_001135191.1/0;CC=c.849+29A>G;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.849+29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:39:14:0:0:19,1,19:604,10,495:0.00,0.01,47.05:0.00,-0.07,13.99:0.00,0.08,33.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,6,60:14.4,255.0,32.6:0,0,0:0,0,0:101,62,106:49,86,45:30,0,36:-,NM_003887.2(ASAP2) c.849+29A>G:-,0.13:-,0.204829 2 9484542 rs6724103 C T 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.1336,T/0.8664;Gene=ASAP2/NM_001135191.1/0;CC=c.850-119C>T;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.850-119C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:368:42.51:42.51:0.00:1.00:1.00:0.00:60:36.2:0:0:38:113:16:NM_003887.2(ASAP2) c.850-119C>T,NM_003887.2(ASAP2) c.850-119C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 2 9484561 rs79044067 TAAAA T 43 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TAAAA/0.1344,T/0.8656;DB;DBA=NA;PAF=TAAAA/0.1344,T/0.8656;NP=2423;PC=0.607;Gene=ASAP2/NM_001135191.1/0;CC=c.850-93_850-90delAAAA;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.850-93_850-90delAAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:12:12:377:43.42:43.42:0.00:1.00:1.00:0.00:60:36.2:0:0:57:94:16:NM_003887.2(ASAP2) c.850-99_850-96delAAAA,NM_003887.2(ASAP2) c.850-99_850-96delAAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 9484765 . G . . NT END=9484859;NT GT ./. 2 9484930 . G . . NT END=9490936;NT GT ./. 2 9485119 rs397983830 GT G 16 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GT/0.1621,G/0.8379;DB;DBA=NA;PAF=GT/0.1621,G/0.8379;NP=250;Gene=ASAP2/NM_001135191.1/0;CC=c.1023+203delT;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.1023+203delT;VC=Intron;DM=ASAP2/PH;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:GT,G:8:0:0:6:3,5:95,191:0.00,15.85:0.00,0.00:0.00,15.85:0.00,0.96:0.00,0.00:0.00,0.96:60,60:7.7,55.0:0,1:0,0:141,99:10,51:3,5:-,NM_003887.2(ASAP2) c.1023+191delT:-,NOT_FOUND:-,NOT_FOUND 2 9485145 rs113885167 A T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8692,T/0.1308;Gene=ASAP2/NM_001135191.1/0;CC=c.1023+216A>T;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.1023+216A>T;VC=Intron;DM=ASAP2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:227:26.04:0.00:26.04:1.00:0.00:1.00:60:44.1:0:0:122:29:5:NM_003887.2(ASAP2) c.1023+216A>T,NM_003887.2(ASAP2) c.1023+216A>T:0.15,0.15:NOT_FOUND,NOT_FOUND 2 9491017 rs4669385 C T 212 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.119,T/0.881;Gene=ASAP2/NM_001135191.1/0;CC=c.1104C>T;ProtCh=p.L368=;VC=Silent;Gene=ASAP2/NM_003887.2/1;CC=c.1104C>T;ProtCh=p.L368=;VC=Silent;DM=ASAP2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:T:58:36:0:0:58:1848:212.35:90.58:121.77:1.00:1.00:1.00:60:34.7:0:0:103:38:25:NM_003887.2(ASAP2) c.1104C>T (p.(=)),NM_003887.2(ASAP2) c.1104C>T (p.(=)):0.9,0.9:0.908734,0.908734 2 9491025 . G . . NT END=9496175;NT GT ./. 2 9496225 . G . . NT END=9496307;NT GT ./. 2 9496291 rs2709591 T C 304 nt VT=SNV;PN=T;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.4297,C/0.5703;Gene=ASAP2/NM_001135191.1/0;CC=c.1161-17T>C;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.1161-17T>C;VC=Intron;DM=ASAP2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:84:57:0:0:84:2637:303.51:162.79:140.72:1.00:1.00:1.00:60:36.0:0:0:64:85:34:NM_003887.2(ASAP2) c.1161-17T>C,NM_003887.2(ASAP2) c.1161-17T>C:0.53,0.53:0.692834,0.692834 2 9496475 . G . . NT END=9498884;NT GT ./. 2 9499019 . G . . NT END=9508553;NT GT ./. 2 9508649 . G . . NT END=9514883;NT GT ./. 2 9515074 . G . . NT END=9517036;NT GT ./. 2 9515099 . TA T 11 idl,rn VT=DEL;SST=Single;DP=64;NP=26;Gene=ASAP2/NM_001135191.1/0;CC=c.1746+40delA;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.1746+40delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,TA,I,T:59:31:3:11:2,48,3,6:68,1391,80,315:4.09,0.00,4.48,11.20:0.98,0.00,0.86,1.96:3.11,0.00,3.62,9.24:0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.98:60,60,60,60:53.5,15.6,63.7,63.7:1,0,0,5:0,0,0,0:72,127,109,116:69,23,42,35:27,17,13,14:-,NM_003887.2(ASAP2) c.1746+27delA:-,NOT_FOUND:-,NOT_FOUND 2 9517123 . G . . NT END=9519072;NT GT ./. 2 9519189 . G . . NT END=9520869;NT GT ./. 2 9520938 . G . . NT END=9525373;NT GT ./. 2 9525488 . G . . NT END=9528422;NT GT ./. 2 9528226 rs4560084 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9673,T/0.03275;PC=0.002;Gene=ASAP2/NM_001135191.1/0;CC=c.2131-197C>T;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.2131-197C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,T:11:11:0:0:7,4:223,112:0.00,9.96:0.00,9.96:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:1.1,34.0:0,0:0,0:55,44:94,105:7,9:-,NM_003887.2(ASAP2) c.2131-197C>T:-,0.04:-,NOT_FOUND 2 9528536 rs2715860 G C 470 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.5541,C/0.4459;PC=1.000;Gene=ASAP2/NM_001135191.1/0;CC=c.2244G>C;ProtCh=p.E748D;VC=Missense;Gene=ASAP2/NM_003887.2/1;CC=c.2244G>C;ProtCh=p.E748D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:122:90:0:0:122:4121:470.25:269.78:200.47:1.00:1.00:1.00:60:39.9:0:0:55:94:29:NM_003887.2(ASAP2) c.2244G>C (p.Glu748Asp),NM_003887.2(ASAP2) c.2244G>C (p.Glu748Asp):0.42,0.42:0.499077,0.499077 2 9528676 . G . . NT END=9531190;NT GT ./. 2 9531326 . G . . NT END=9533610;NT GT ./. 2 9533777 . G . . NT END=9540151;NT GT ./. 2 9540202 . G . . NT END=9540870;NT GT ./. 2 9540378 rs188505839 T C 7 end;mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ASAP2/NM_001135191.1/0;CC=c.2599+177T>C;VC=Intron;Gene=ASAP2/NM_003887.2/1;CC=c.2734+177T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:C,T:4:0:0:0:2,2:70,43:6.76,0.00:0.00,0.00:6.76,0.00:0.51,0.00:0.00,0.00:0.51,0.00:9,60:68.0,102.0:0,0:0,0:68,137:0,13:0,12:NM_003887.2(ASAP2) c.2734+177T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 9540960 . G . . NT END=9541402;NT GT ./. 2 9541526 . G . . NT END=9543381;NT GT ./. 2 9543457 . A . . NT END=9546962;NT GT ./. 2 9546805 rs4798 C T 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7991,T/0.2009;PC=0.088;Gene=ITGB1BP1/NM_004763.3/1;CC=c.*158G>A;VC=3UTR;Gene=ITGB1BP1/NM_022334.3/0;CC=c.*158G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:274:32.07:32.07:0.00:1.00:1.00:0.00:60:39.8:0:0:13:138:13:NM_004763.3(ITGB1BP1) c.*158G>A,NM_004763.3(ITGB1BP1) c.*158G>A:0.21,0.21:NOT_FOUND,NOT_FOUND 2 9547035 . C . . NT END=9547577;NT GT ./. 2 9547171 rs10929579 G A 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6474,A/0.3526;Gene=ITGB1BP1/NM_004763.3/1;CC=c.532-137C>T;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.382-137C>T;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:2:0:0:15:481:55.25:7.55:47.70:1.00:1.00:1.00:60:40.0:0:0:71:80:26:NM_004763.3(ITGB1BP1) c.532-137C>T,NM_004763.3(ITGB1BP1) c.532-137C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 2 9547363 rs10929580 C A 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6502,A/0.3498;PC=0.001;Gene=ITGB1BP1/NM_004763.3/1;CC=c.531+215G>T;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.382-329G>T;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:474:54.53:54.53:0.00:1.00:1.00:0.00:60:57.7:0:0:48:102:30:NM_004763.3(ITGB1BP1) c.531+215G>T,NM_004763.3(ITGB1BP1) c.531+215G>T:0.35,0.35:NOT_FOUND,NOT_FOUND 2 9547728 . C . . NT END=9548241;NT GT ./. 2 9548026 rs397869347 T TG 19 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6987,TG/0.3013,TGG/.;DB;DBA=NA;PAF=T/0.6987,TG/0.3013;DB;DBA=NA;PAF=T/0.6987,TG/0.3013;NP=39;PC=0.097;Gene=ITGB1BP1/NM_004763.3/1;CC=c.381+215dupC;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.381+215dupC;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:T,TG:7:4:6:0:1,6:32,177:0.00,19.31:0.00,9.08:0.00,10.23:0.00,1.00:0.00,1.00:0.00,1.00:60,70:13.0,59.7:0,0:0,0:23,38:127,107:0,13:-,NM_004763.3(ITGB1BP1) c.381+215_381+216insC:-,0.3:-,NOT_FOUND 2 9548335 . C . . NT END=9552397;NT GT ./. 2 9552171 rs56249290 CA C,CAA 14 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:CAA,C:5:6:1:5:1,4:34,156:3.10,14.10:3.10,14.10:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:7.0,33.0:0,1:0,0:66,37:85,111:0,29:NM_004763.3(ITGB1BP1) c.288+226delT,NM_004763.3(ITGB1BP1) c.288+226dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 9552383 . AT A 15 rn VT=DEL;SST=Single;DP=31;NP=17;Gene=ITGB1BP1/NM_004763.3/1;CC=c.288+14delA;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.288+14delA;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:AT,A:31:24:0:6:25,6:790,185:0.00,14.75:0.00,8.53:0.00,6.22:0.00,0.90:0.00,0.98:0.00,0.93:60,70:7.9,5.2:0,0:0,0:63,48:87,103:22,27:-,NM_004763.3(ITGB1BP1) c.288+14delA:-,NOT_FOUND:-,0.027172 2 9552535 . C . . NT END=9554306;NT GT ./. 2 9554075 rs10199974 T G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5308,G/0.4692;Gene=ITGB1BP1/NM_004763.3/1;CC=c.151+232A>C;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.151+232A>C;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:149:17.25:17.25:0.00:1.00:1.00:0.00:60:70.2:0:0:25:126:12:NM_004763.3(ITGB1BP1) c.151+232A>C,NM_004763.3(ITGB1BP1) c.151+232A>C:0.45,0.45:NOT_FOUND,NOT_FOUND 2 9554255 rs10208358 G A 104 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.4295,A/0.5705;Gene=ITGB1BP1/NM_004763.3/1;CC=c.151+52C>T;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.151+52C>T;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:26:0:0:27:914:104.28:90.46:13.82:1.00:1.00:1.00:60:34.9:0:0:60:89:22:NM_004763.3(ITGB1BP1) c.151+52C>T,NM_004763.3(ITGB1BP1) c.151+52C>T:0.53,0.53:0.708058,0.708058 2 9554386 . C . . NT END=9558754;NT GT ./. 2 9554461 rs10185646 C A 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5308,A/0.4692;Gene=ITGB1BP1/NM_004763.3/1;CC=c.73-76G>T;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.73-76G>T;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A,C:19:2:0:0:18,1:552,12:62.15,0.00:3.75,0.00:58.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,206.0:0,0:0,0:106,11:45,139:23,0:NM_004763.3(ITGB1BP1) c.73-76G>T,NM_004763.3(ITGB1BP1) c.73-76G>T:0.45,0.45:NOT_FOUND,NOT_FOUND 2 9558614 rs16867025 T C 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8634,C/0.1366;Gene=ITGB1BP1/NM_004763.3/1;CC=c.72+141A>G;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.72+141A>G;VC=Intron;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg;DM=ITGB1BP1/ICAP-1_inte_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,C:10:10:0:0:1,9:12,315:0.73,35.38:0.73,35.38:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:168.0,41.2:0,0:0,0:133,38:17,113:0,20:NM_004763.3(ITGB1BP1) c.72+141A>G,NM_004763.3(ITGB1BP1) c.72+141A>G:0.15,0.15:NOT_FOUND,NOT_FOUND 2 9558862 . C . . NT END=9560118;NT GT ./. 2 9558905 rs71389244 C CT 21 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.331;Gene=ITGB1BP1/NM_004763.3/1;CC=c.-35-45_-35-44insA;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.-35-45_-35-44insA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:21:12:12:2:12,8,1:374,352,68:0.00,21.11,2.26:0.00,5.10,2.35:0.00,16.01,-0.09:0.00,0.98,0.00:0.00,0.97,0.00:0.00,1.00,0.00:60,60,60:7.4,23.8,0.0:0,4,1:0,0,0:130,79,90:19,65,60:12,38,17:-,NM_004763.3(ITGB1BP1) c.-35-45_-35-44insA:-,NOT_FOUND:-,NOT_FOUND 2 9560230 . C . . NT END=9562607;NT GT ./. 2 9560346 rs4436931 A G 66 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8636,G/0.1364;Gene=ITGB1BP1/NM_004763.3/1;CC=c.-35-1485T>C;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.-35-1485T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:0:0:0:17:576:65.71:0.00:65.71:1.00:0.00:1.00:60:83.5:0:0:86:65:19:NM_004763.3(ITGB1BP1) c.-35-1485T>C,NM_004763.3(ITGB1BP1) c.-35-1485T>C:0.15,0.15:NOT_FOUND,NOT_FOUND 2 9560372 rs4479399 A C 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8632,C/0.1368;Gene=ITGB1BP1/NM_004763.3/1;CC=c.-35-1511T>G;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.-35-1511T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:0:0:0:14:451:51.77:0.00:51.77:1.00:0.00:1.00:60:94.2:0:0:105:45:15:NM_004763.3(ITGB1BP1) c.-35-1511T>G,NM_004763.3(ITGB1BP1) c.-35-1511T>G:0.15,0.15:NOT_FOUND,NOT_FOUND 2 9560413 rs4516401 C T 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7382,T/0.2618;PC=0.001;Gene=ITGB1BP1/NM_004763.3/1;CC=c.-35-1552G>A;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.-35-1552G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:281:32.39:0.00:32.39:1.00:0.00:1.00:60:96.1:0:0:134:15:11:NM_004763.3(ITGB1BP1) c.-35-1552G>A,NM_004763.3(ITGB1BP1) c.-35-1552G>A:0.26,0.26:NOT_FOUND,NOT_FOUND 2 9562263 rs55685911 T C 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8636,C/0.1364;PC=0.001;Gene=ITGB1BP1/NM_004763.3/1;CC=c.-36+1239A>G;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.-36+1239A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:108:12.68:12.68:0.00:1.00:1.00:0.00:60:61.0:0:0:23:127:17:NM_004763.3(ITGB1BP1) c.-36+1239A>G,NM_004763.3(ITGB1BP1) c.-36+1239A>G:0.15,0.15:NOT_FOUND,NOT_FOUND 2 9562294 rs56063038 T G 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8702,G/0.1298;PC=0.163;Gene=ITGB1BP1/NM_004763.3/1;CC=c.-36+1208A>C;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.-36+1208A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:195:22.83:22.83:0.00:1.00:1.00:0.00:60:48.3:0:0:36:115:21:NM_004763.3(ITGB1BP1) c.-36+1208A>C,NM_004763.3(ITGB1BP1) c.-36+1208A>C:0.14,0.14:NOT_FOUND,NOT_FOUND 2 9563307 rs34550584 CGT C 668 PASS VT=DEL;SST=Single;DP=213;DB;DBA=NA;PAF=CGT/0.5234,C/0.4766;DB;DBA=NA;PAF=CGT/0.5234,C/0.4766;NP=481;PC=0.002;Gene=ITGB1BP1/NM_004763.3/1;CC=c.-36+193_-36+194delAC;VC=Intron;Gene=ITGB1BP1/NM_022334.3/0;CC=c.-36+193_-36+194delAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:CGT,C:212:150:0:201:13,199:390,5971:0.00,668.40:0.00,363.96:0.00,304.45:0.00,1.00:0.00,1.00:0.00,1.00:60,70:22.4,9.1:1,2:0,0:146,72:2,75:3,32:NM_004763.3(ITGB1BP1) c.-36+193_-36+194delAC,NM_004763.3(ITGB1BP1) c.-36+193_-36+194delAC:0.45,0.45:NOT_FOUND,NOT_FOUND 2 9563375 . G . . NT END=9563501;NT GT ./. 2 9563521 . C . . NT END=9563902;NT GT ./. 2 9564182 . G . . NT END=9564189;NT GT ./. 2 9564365 . G . . NT END=9568893;NT GT ./. 2 9564534 rs11691132 C T 62 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8932,T/0.1068;Gene=CPSF3/NM_016207.3/1;CC=c.50+582C>T;VC=Intron;DM=CPSF3/Lactamase_B_6;DM=CPSF3/Lactamase_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:0:0:0:17:539:62.01:0.00:62.01:1.00:0.00:1.00:60:43.1:0:0:115:36:30:NM_016207.3(CPSF3) c.50+582C>T,NM_016207.3(CPSF3) c.50+582C>T:0.12,0.12:NOT_FOUND,NOT_FOUND 2 9568958 . G . . NT END=9570051;NT GT ./. 2 9569123 rs72775268 A G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9046,G/0.09545;Gene=CPSF3/NM_016207.3/1;CC=c.114+166A>G;VC=Intron;DM=CPSF3/Lactamase_B_6;DM=CPSF3/Lactamase_B;DM=CPSF3/Lactamase_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:110:12.89:0.00:12.89:1.00:0.00:1.00:60:51.5:0:0:126:24:13:NM_016207.3(CPSF3) c.114+166A>G,NM_016207.3(CPSF3) c.114+166A>G:0.11,0.11:NOT_FOUND,NOT_FOUND 2 9569972 rs7589401 A T 94 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.5325,T/0.4675;Gene=CPSF3/NM_016207.3/1;CC=c.115-80A>T;VC=Intron;DM=CPSF3/Lactamase_B_6;DM=CPSF3/Lactamase_B;DM=CPSF3/Lactamase_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:26:0:0:26:814:93.65:82.02:11.63:1.00:1.00:1.00:60:35.0:0:0:63:87:36:NM_016207.3(CPSF3) c.115-80A>T,NM_016207.3(CPSF3) c.115-80A>T:0.45,0.45:NOT_FOUND,NOT_FOUND 2 9570150 . G . . NT END=9570880;NT GT ./. 2 9571010 . G . . NT END=9572639;NT GT ./. 2 9571054 rs2002044 C T 101 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5325,T/0.4675;Gene=CPSF3/NM_016207.3/1;CC=c.341+45C>T;VC=Intron;DM=CPSF3/Lactamase_B_6;DM=CPSF3/Lactamase_B;DM=CPSF3/Lactamase_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G,T:29:10:0:0:1,28:11,884:0.33,101.32:0.33,19.34:0.00,81.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,32.5:0,0:0,0:100,74:51,74:0,30:NM_016207.3(CPSF3) c.341+45C>T,NM_016207.3(CPSF3) c.341+45C>T:0.45,0.45:0.660234,0.660234 2 9572473 rs397702580 T TA 34 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5501,TA/0.4499;DB;DBA=NA;PAF=T/0.5501,TA/0.4499;NP=134;PC=0.002;Gene=CPSF3/NM_016207.3/1;CC=c.342-157dupA;VC=Intron;DM=CPSF3/Lactamase_B_6;DM=CPSF3/Lactamase_B;DM=CPSF3/Lactamase_B;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TA:12:15:13:0:2,10:63,402:0.00,34.25:0.00,34.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,10.9:0,3:0,0:19,44:131,107:12,33:-,NM_016207.3(CPSF3) c.342-167_342-166insA:-,NOT_FOUND:-,NOT_FOUND 2 9572818 . G . . NT END=9573999;NT GT ./. 2 9572887 rs559362405 TA T 14 rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=TA/0.9189,T/0.08107;DB;DBA=NA;PAF=TA/0.9189,T/0.08107;NP=70;Gene=CPSF3/NM_016207.3/1;CC=c.519+81delA;VC=Intron;DM=CPSF3/Lactamase_B;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:TA,I,T:50:7:2:6:42,2,6:1162,62,187:0.00,3.62,13.73:0.00,-0.08,1.23:0.00,3.70,12.49:0.00,0.00,0.85:0.00,0.00,0.55:0.00,0.00,0.99:60,60,60:13.7,0.0,16.2:0,0,0:0,0,0:101,125,92:49,26,58:30,6,16:-,NM_016207.3(CPSF3) c.519+71delA:-,NOT_FOUND:-,NOT_FOUND 2 9573113 rs10209023 A G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8912,G/0.1088;Gene=CPSF3/NM_016207.3/1;CC=c.519+296A>G;VC=Intron;DM=CPSF3/Lactamase_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:97:11.55:0.00:11.55:1.00:0.00:1.00:60:31.0:0:0:127:19:4:NM_016207.3(CPSF3) c.519+296A>G,NM_016207.3(CPSF3) c.519+296A>G:0.13,0.13:NOT_FOUND,NOT_FOUND 2 9574090 . G . . NT END=9576339;NT GT ./. 2 9576491 . G . . NT END=9580619;NT GT ./. 2 9576553 rs6432003 T C 187 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.5323,C/0.4677;Gene=CPSF3/NM_016207.3/1;CC=c.760+63T>C;VC=Intron;DM=CPSF3/Beta-Casp;DM=CPSF3/Beta-Casp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C:54:9:0:0:54:1615:187.19:21.76:165.43:1.00:1.00:1.00:60:39.7:0:0:101:47:28:NM_016207.3(CPSF3) c.760+63T>C,NM_016207.3(CPSF3) c.760+63T>C:0.45,0.45:NOT_FOUND,NOT_FOUND 2 9576771 rs113201671 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9048,A/0.09525;PC=0.001;Gene=CPSF3/NM_016207.3/1;CC=c.760+281G>A;VC=Intron;DM=CPSF3/Beta-Casp;DM=CPSF3/Beta-Casp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:104:12.30:3.78:8.52:1.00:1.00:1.00:60:67.8:0:0:92:58:34:NM_016207.3(CPSF3) c.760+281G>A,NM_016207.3(CPSF3) c.760+281G>A:0.11,0.11:NOT_FOUND,NOT_FOUND 2 9580540 rs202198125 G GT 109 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.5321,GT/0.4679;DB;DBA=NA;PAF=NA;NP=2644;Gene=CPSF3/NM_016207.3/1;CC=c.761-78dupT;VC=Intron;DM=CPSF3/Beta-Casp;DM=CPSF3/Beta-Casp;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G,T,GT:37:32:32:0:2,3,32:60,74,975:0.00,5.50,108.97:0.00,5.50,85.43:0.00,0.00,23.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:0.0,84.3,13.5:0,1,0:0,0,0:145,106,53:3,44,98:0,44,31:NM_016207.3(CPSF3) c.761-80_761-79insT,NM_016207.3(CPSF3) c.761-80_761-79insT:0.45,0.45:NOT_FOUND,NOT_FOUND 2 9580796 . G . . NT END=9581946;NT GT ./. 2 9581741 rs7582154 C T 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6583,T/0.3417;Gene=CPSF3/NM_016207.3/1;CC=c.937-206C>T;VC=Intron;DM=CPSF3/Beta-Casp;DM=CPSF3/Beta-Casp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:441:50.70:50.70:0.00:1.00:1.00:0.00:60:50.5:0:0:13:137:7:NM_016207.3(CPSF3) c.937-206C>T,NM_016207.3(CPSF3) c.937-206C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 2 9582106 . G . . NT END=9583643;NT GT ./. 2 9583791 . G . . NT END=9588326;NT GT ./. 2 9583822 rs397752622 A AG 134 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.9044,AG/0.09565;DB;DBA=NA;PAF=A/0.9044,AG/0.09565;NP=1129;Gene=CPSF3/NM_016207.3/1;CC=c.1242+35dupG;VC=Intron;DM=CPSF3/RMMBL;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A,AG:42:18:40:0:2,40:47,1183:0.00,134.02:0.00,41.07:0.00,92.94:0.00,1.00:0.00,1.00:0.00,1.00:60,70:63.0,25.4:2,0:0,0:84,73:66,78:50,40:NM_016207.3(CPSF3) c.1242+32_1242+33insG,NM_016207.3(CPSF3) c.1242+32_1242+33insG:0.12,0.12:0.172045,0.172045 2 9583922 rs11681316 A G 66 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.5675,G/0.4325;Gene=CPSF3/NM_016207.3/1;CC=c.1242+132A>G;VC=Intron;DM=CPSF3/RMMBL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:0:0:0:18:578:66.35:0.00:66.35:1.00:0.00:1.00:60:47.6:0:0:111:38:18:NM_016207.3(CPSF3) c.1242+132A>G,NM_016207.3(CPSF3) c.1242+132A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 2 9588480 . G . . NT END=9593041;NT GT ./. 2 9588691 rs55885294 G T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8854,T/0.1146;PC=0.984;Gene=CPSF3/NM_016207.3/1;CC=c.1395+212G>T;VC=Intron;DM=CPSF3/CPSF73-100_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:2:0:0:5:148:17.18:5.11:12.07:1.00:1.00:1.00:60:80.6:0:0:91:58:51:NM_016207.3(CPSF3) c.1395+212G>T,NM_016207.3(CPSF3) c.1395+212G>T:0.13,0.13:NOT_FOUND,NOT_FOUND 2 9593151 . G . . NT END=9595787;NT GT ./. 2 9595887 . G . . NT END=9597061;NT GT ./. 2 9597157 . G . . NT END=9599659;NT GT ./. 2 9597276 rs70948817 A ATG 15 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7003,ATG/0.2997;DB;DBA=NA;PAF=A/0.7003,ATG/0.2997;NP=1;NP=2;NP=3;NP=53;Gene=CPSF3/NM_016207.3/1;CC=c.1698+164_1698+165insTG;VC=Intron;DM=CPSF3/CPSF73-100_C;DM=CPSF3/CPSF73-100_C;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,ATG:12:3:5:0:7,5:202,161:0.00,14.95:0.00,2.96:0.00,11.99:0.00,0.92:0.00,0.82:0.00,0.99:60,60:31.4,5.8:0,0:0,0:121,17:30,89:25,13:-,NM_016207.3(CPSF3) c.1698+120_1698+121insTG:-,NOT_FOUND:-,NOT_FOUND 2 9599748 . G . . NT END=9607835;NT GT ./. 2 9599848 rs7570618 A G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5765,G/0.4235;PC=0.001;Gene=CPSF3/NM_016207.3/1;CC=c.1786+101A>G;VC=Intron;DM=CPSF3/CPSF73-100_C;DM=CPSF3/CPSF73-100_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:153:17.68:0.00:17.68:1.00:0.00:1.00:60:83.4:0:0:106:41:28:NM_016207.3(CPSF3) c.1786+101A>G,NM_016207.3(CPSF3) c.1786+101A>G:0.4,0.4:NOT_FOUND,NOT_FOUND 2 9599865 rs7570625 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5765,G/0.4235;PC=0.049;Gene=CPSF3/NM_016207.3/1;CC=c.1786+118A>G;VC=Intron;DM=CPSF3/CPSF73-100_C;DM=CPSF3/CPSF73-100_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:128:14.70:0.00:14.70:1.00:0.00:1.00:60:76.2:0:0:87:60:38:NM_016207.3(CPSF3) c.1786+118A>G,NM_016207.3(CPSF3) c.1786+118A>G:0.4,0.4:NOT_FOUND,NOT_FOUND 2 9607820 . C CT 8 sb,rn VT=INS;SST=Single;DP=46;Gene=CPSF3/NM_016207.3/1;CC=c.1787-6dupT;VC=Intron;DM=CPSF3/CPSF73-100_C;DM=CPSF3/CPSF73-100_C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,CT:46:39:4:0:42,4:1469,123:0.00,8.31:0.00,1.74:0.00,6.57:0.00,0.57:0.00,0.91:0.00,0.85:60,60:10.0,3.0:0,0:0,0:53,18:96,122:17,1:-,NM_016207.3(CPSF3) c.1787-16_1787-15insT:-,NOT_FOUND:-,NOT_FOUND 2 9607906 . G . . NT END=9611471;NT GT ./. 2 9611342 rs58209081 C CA 14 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9778,CA/0.02216;DB;DBA=NA;PAF=C/0.9778,CA/0.02216;NP=30;Gene=CPSF3/NM_016207.3/1;CC=c.1857-119_1857-118insA;VC=Intron;DM=CPSF3/CPSF73-100_C;DM=CPSF3/CPSF73-100_C;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,CA:15:16:6:0:10,5:341,188:0.00,13.63:0.00,13.63:0.00,0.00:0.00,0.88:0.00,0.88:0.00,0.00:60,60:5.4,4.0:0,1:0,0:81,63:70,86:35,32:-,NM_016207.3(CPSF3) c.1857-130_1857-129insA:-,NOT_FOUND:-,NOT_FOUND 2 9611569 . G . . NT END=9613044;NT GT ./. 2 9612901 rs4622691 A C 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5415,C/0.4585;PC=0.002;Gene=CPSF3/NM_016207.3/1;CC=c.1954-144A>C;VC=Intron;DM=CPSF3/CPSF73-100_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:287:32.97:32.97:0.00:1.00:1.00:0.00:60:68.9:0:0:28:123:28:NM_016207.3(CPSF3) c.1954-144A>C,NM_016207.3(CPSF3) c.1954-144A>C:0.44,0.44:NOT_FOUND,NOT_FOUND 2 9613147 . G . . NT END=9614695;NT GT ./. 2 9613289 rs2001658 T C 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5415,C/0.4585 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:404:47.52:0.00:47.52:1.00:0.00:1.00:60:56.5:0:0:116:30:29:NM_001039613.1(IAH1) c.-26-u1381T>C,NM_001039613.1(IAH1) c.-26-u1381T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 2 9613328 rs2001659 G A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5763,A/0.4237 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:193:22.16:0.00:22.16:1.00:0.00:1.00:60:66.5:0:0:106:45:25:NM_001039613.1(IAH1) c.-26-u1342G>A,NM_001039613.1(IAH1) c.-26-u1342G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 2 9614523 rs13411809 G A 54 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5306,A/0.4694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:17:0:0:17:460:53.97:53.97:0.00:1.00:1.00:0.00:60:47.8:0:0:44:107:24:NM_001039613.1(IAH1) c.-26-u147G>A,NM_001039613.1(IAH1) c.-26-u147G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 9614667 rs561437641 G GGCCCC 170 nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:G,GGCCCC:59:48:50:0:9,50:220,1565:0.00,169.53:0.00,92.63:0.00,76.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.2,6.4:1,0:0,0:107,42:20,103:24,20:-,NM_001039613.1(IAH1) c.-26-u3_-26-u2insGCCCC:-,NOT_FOUND:-,NOT_FOUND 2 9614777 . G . . NT END=9615132;NT GT ./. 2 9615347 . G . . NT END=9616115;NT GT ./. 2 9615556 rs6432007 T C 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5555,C/0.4445;Gene=IAH1/NM_001039613.1/1;CC=c.82-560T>C;VC=Intron;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:187:22.32:0.00:22.32:1.00:0.00:1.00:60:64.0:0:0:107:43:24:NM_001039613.1(IAH1) c.82-560T>C,NM_001039613.1(IAH1) c.82-560T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 2 9615881 rs6432009 T C 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5553,C/0.4447;Gene=IAH1/NM_001039613.1/1;CC=c.82-235T>C;VC=Intron;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:7:0:0:8:268:30.62:27.24:3.38:1.00:1.00:1.00:60:53.1:0:0:42:108:30:NM_001039613.1(IAH1) c.82-235T>C,NM_001039613.1(IAH1) c.82-235T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 2 9615931 . A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;PC=0.017;Gene=IAH1/NM_001039613.1/1;CC=c.82-185A>G;VC=Intron;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,G:11:11:0:0:5,6:165,161:0.00,15.62:0.00,15.62:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:35.6,89.8:0,0:0,0:55,45:96,105:27,29:-,NM_001039613.1(IAH1) c.82-185A>G:-,NOT_FOUND:-,NOT_FOUND 2 9616035 rs7591166 A G 78 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6502,G/0.3498;Gene=IAH1/NM_001039613.1/1;CC=c.82-81A>G;VC=Intron;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G,T:23:18:0:0:22,1:679,12:77.95,0.46:59.45,0.46:18.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,158.0:0,0:0,0:41,114:109,29:28,0:NM_001039613.1(IAH1) c.82-81A>G,NM_001039613.1(IAH1) c.82-81A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 2 9616169 . G . . NT END=9618350;NT GT ./. 2 9616301 rs55842436 TAGG T 18 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TAGG/0.6627,T/0.3373;DB;DBA=NA;PAF=TAGG/0.6627,T/0.3373;NP=949;Gene=IAH1/NM_001039613.1/1;CC=c.134+136_134+138delGAG;VC=Intron;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:TAGG,T:6:0:0:5:1,5:32,163:0.00,17.51:0.00,0.00:0.00,17.51:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,0.0:0,0:0,0:144,100:3,50:0,24:-,NM_001039613.1(IAH1) c.134+134_134+136delAGG:-,0.33:-,NOT_FOUND 2 9618133 rs59018063 T C 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8698,C/0.1302;Gene=IAH1/NM_001039613.1/1;CC=c.135-218T>C;VC=Intron;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:302:34.94:34.94:0.00:1.00:1.00:0.00:60:60.2:0:0:38:113:30:NM_001039613.1(IAH1) c.135-218T>C,NM_001039613.1(IAH1) c.135-218T>C:0.13,0.13:NOT_FOUND,NOT_FOUND 2 9618500 . G . . NT END=9621414;NT GT ./. 2 9621577 . G . . NT END=9624560;NT GT ./. 2 9621683 rs2276337 G A 98 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5952,A/0.4048;Gene=IAH1/NM_001039613.1/1;CC=c.445+107G>A;VC=Intron;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:0:0:0:26:856:97.96:0.00:97.96:1.00:0.00:1.00:60:47.0:0:0:92:58:29:NM_001039613.1(IAH1) c.445+107G>A,NM_001039613.1(IAH1) c.445+107G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 2 9621837 rs17524237 A G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5399,G/0.4601;Gene=IAH1/NM_001039613.1/1;CC=c.445+261A>G;VC=Intron;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:176:19.98:0.00:19.98:1.00:0.00:1.00:60:46.8:0:0:96:54:34:NM_001039613.1(IAH1) c.445+261A>G,NM_001039613.1(IAH1) c.445+261A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 2 9624680 . G . . NT END=9628275;NT GT ./. 2 9624794 rs17524376 T A 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.7069,A/0.2931;Gene=IAH1/NM_001039613.1/1;CC=c.564+115T>A;VC=Intron;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:0:0:0:20:612:70.73:0.00:70.73:1.00:0.00:1.00:60:42.7:0:0:66:84:40:NM_001039613.1(IAH1) c.564+115T>A,NM_001039613.1(IAH1) c.564+115T>A:0.29,0.29:NOT_FOUND,NOT_FOUND 2 9627956 . TGTGTGTGCGCGC T 9 nt VT=DEL;SST=Single;DP=4;NP=45;PC=0.015;Gene=IAH1/NM_001039613.1/1;CC=c.565-318_565-307delTGTGTGCGCGCG;VC=Intron;DM=IAH1/Lipase_GDSL;DM=IAH1/Lipase_GDSL;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TGTGTGTGCGCGC,T:4:3:0:3:1,3:34,87:0.00,9.15:0.00,5.23:0.00,3.92:0.00,0.85:0.00,0.99:0.00,0.99:48,70:65.0,21.3:0,0:0,0:77,28:2,103:0,5:-,NM_001039613.1(IAH1) c.565-319_565-308delGTGTGTGCGCGC:-,NOT_FOUND:-,NOT_FOUND 2 9628459 . C . . NT END=9630305;NT GT ./. 2 9630231 rs6705408 C T 101 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.5393,T/0.4607;Gene=ADAM17/NM_003183.4/1;CC=c.*75G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:27:0:0:28:875:100.72:91.43:9.29:1.00:1.00:1.00:60:44.9:0:0:55:96:25:NM_003183.4(ADAM17) c.*75G>A,NM_003183.4(ADAM17) c.*75G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 2 9630244 rs397871862 AT A 125 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=AT/0.6088,A/0.3912;DB;DBA=NA;PAF=AT/0.6088,A/0.3912;NP=2046;PC=0.002;Gene=ADAM17/NM_003183.4/1;CC=c.*61delA;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:AT,A:36:35:0:35:1,35:25,1103:0.00,125.02:0.00,115.60:0.00,9.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:105.0,31.6:1,0:0,0:90,52:21,99:0,37:NM_003183.4(ADAM17) c.*59A[2],NM_003183.4(ADAM17) c.*59A[2]:0.38,0.38:NOT_FOUND,NOT_FOUND 2 9630648 . C . . NT END=9631229;NT GT ./. 2 9631281 . C . . NT END=9633026;NT GT ./. 2 9631340 rs10495562 T C 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.7055,C/0.2945;Gene=ADAM17/NM_003183.4/1;CC=c.2083-60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:7:0:0:23:779:88.84:19.73:69.11:1.00:1.00:1.00:60:41.7:0:0:107:42:29:NM_003183.4(ADAM17) c.2083-60A>G,NM_003183.4(ADAM17) c.2083-60A>G:0.29,0.29:0.461892,0.461892 2 9632802 rs55855916 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8642,C/0.1358;Gene=ADAM17/NM_003183.4/1;CC=c.2082+225A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:49.0:0:0:16:134:11:NM_003183.4(ADAM17) c.2082+225A>G,NM_003183.4(ADAM17) c.2082+225A>G:0.14,0.14:NOT_FOUND,NOT_FOUND 2 9633116 . C . . NT END=9633875;NT GT ./. 2 9633137 rs4622692 T G 100 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5383,G/0.4617;Gene=ADAM17/NM_003183.4/1;CC=c.1994-22A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:12:0:0:26:878:100.17:25.85:74.32:1.00:1.00:1.00:60:34.5:0:0:110:35:26:NM_003183.4(ADAM17) c.1994-22A>C,NM_003183.4(ADAM17) c.1994-22A>C:0.44,0.44:0.644417,0.644417 2 9633955 . C . . NT END=9634765;NT GT ./. 2 9634100 rs883399 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6204,A/0.3796;Gene=ADAM17/NM_003183.4/1;CC=c.1915-146C>T;VC=Intron;DM=ADAM17/ADAM17_MPD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:130:15.31:0.00:15.31:1.00:0.00:1.00:60:26.8:0:0:94:57:19:NM_003183.4(ADAM17) c.1915-146C>T,NM_003183.4(ADAM17) c.1915-146C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 2 9634856 rs1048610 A G 276 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.5355,G/0.4645;PC=0.026;Gene=ADAM17/NM_003183.4/1;CC=c.1824T>C;ProtCh=p.S608=;VC=Silent;DM=ADAM17/ADAM17_MPD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:77:53:0:0:77:2394:275.84:134.62:141.23:1.00:1.00:1.00:60:38.2:0:0:47:101:31:NM_003183.4(ADAM17) c.1824T>C (p.(=)),NM_003183.4(ADAM17) c.1824T>C (p.(=)):0.45,0.45:0.645548,0.645548 2 9634897 . C . . NT END=9637242;NT GT ./. 2 9637085 rs12995571 C G 129 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.617,G/0.383;Gene=ADAM17/NM_003183.4/1;CC=c.1783+158G>C;VC=Intron;DM=ADAM17/ADAM17_MPD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:35:0:0:35:1126:129.29:129.29:0.00:1.00:1.00:0.00:60:34.7:0:0:53:98:26:NM_003183.4(ADAM17) c.1783+158G>C,NM_003183.4(ADAM17) c.1783+158G>C:0.37,0.37:NOT_FOUND,NOT_FOUND 2 9637331 rs56237316 A G 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.9916,G/0.008387,T/.;Gene=ADAM17/NM_003183.4/1;CC=c.1695T>C;ProtCh=p.T565=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:93:56:0:0:45,47,1:1517,1489,11:0.00,143.63,-0.08:0.00,50.03,-0.12:0.00,93.61,0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:22.4,52.2,20.0:0,0,0:0,0,0:70,74,127:81,77,23:37,37,0:-,NM_003183.4(ADAM17) c.1695T>C (p.(=)):-,0.01:-,0.011533 2 9637378 . C . . NT END=9642301;NT GT ./. 2 9637403 rs41264175 A G 270 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.8994,G/0.1006;PC=0.011;Gene=ADAM17/NM_003183.4/1;CC=c.1649-26T>C;VC=Intron;DM=ADAM17/Disintegrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:70:30:0:0:69,1:2377,7:270.17,0.06:81.55,0.00:188.62,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.6,86.0:0,0:0,0:102,97:47,52:28,0:NM_003183.4(ADAM17) c.1649-26T>C,NM_003183.4(ADAM17) c.1649-26T>C:0.11,0.11:0.174074,0.174074 2 9642406 . C . . NT END=9645294;NT GT ./. 2 9642478 rs34367192 C T 70 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7087,T/0.2913;Gene=ADAM17/NM_003183.4/1;CC=c.1545-73G>A;VC=Intron;DM=ADAM17/Disintegrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:4:0:0:18:611:69.68:9.14:60.54:1.00:1.00:1.00:60:38.7:0:0:113:36:18:NM_003183.4(ADAM17) c.1545-73G>A,NM_003183.4(ADAM17) c.1545-73G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 2 9645495 . C . . NT END=9650107;NT GT ./. 2 9649966 rs11891922 A G 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5391,G/0.4609;Gene=ADAM17/NM_003183.4/1;CC=c.1344+142T>C;VC=Intron;DM=ADAM17/Reprolysin_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:433:49.48:49.48:0.00:1.00:1.00:0.00:60:35.5:0:0:38:113:22:NM_003183.4(ADAM17) c.1344+142T>C,NM_003183.4(ADAM17) c.1344+142T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 2 9650261 . C . . NT END=9658029;NT GT ./. 2 9650350 rs35431407 C CATAA 77 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6939,CATAA/0.3061,CATAAT/.;NP=575;Gene=ADAM17/NM_003183.4/1;CC=c.1192-91_1192-90insTTAT;VC=Intron;DM=ADAM17/Reprolysin_5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C,CATAA:23:5:22:0:1,22:31,683:0.00,77.00:0.00,12.30:0.00,64.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,8.2:0,0:0,0:149,101:2,50:0,21:NM_003183.4(ADAM17) c.1192-91_1192-90insTTAT,NM_003183.4(ADAM17) c.1192-91_1192-90insTTAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 9658119 . C . . NT END=9658231;NT GT ./. 2 9658377 . C . . NT END=9661331;NT GT ./. 2 9658388 rs34863481 C CA 41 idl,rn VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=5;PC=0.637;Gene=ADAM17/NM_003183.4/1;CC=c.958-13_958-12insT;VC=Intron;DM=ADAM17/Reprolysin_5;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:44:36:19:10:24,15,5:664,579,261:0.00,41.32,12.75:0.00,30.95,11.83:0.00,10.38,0.92:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,70,60:48.8,63.2,36.4:0,5,4:0,0,0:113,51,56:23,81,95:26,20,20:-,NM_003183.4(ADAM17) c.958-13_958-12insT:-,NOT_FOUND:-,NOT_FOUND 2 9661446 . C . . NT END=9663377;NT GT ./. 2 9661589 rs4278906 C T 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5292,T/0.4708;PC=0.035;Gene=ADAM17/NM_003183.4/1;CC=c.844-144G>A;VC=Intron;DM=ADAM17/Reprolysin_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:194:22.26:0.00:22.26:1.00:0.00:1.00:60:34.2:0:0:129:21:16:NM_003183.4(ADAM17) c.844-144G>A,NM_003183.4(ADAM17) c.844-144G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 2 9663468 . C . . NT END=9666239;NT GT ./. 2 9666374 . C . . NT END=9667914;NT GT ./. 2 9667751 rs17525468 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8978,C/0.1022;Gene=ADAM17/NM_003183.4/1;CC=c.619+164A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:A,C:13:13:0:0:1,12:10,395:0.48,44.80:0.48,44.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:110.0,34.0:0,0:0,0:18,48:133,102:0,13:NM_003183.4(ADAM17) c.619+164A>G,NM_003183.4(ADAM17) c.619+164A>G:0.11,0.11:NOT_FOUND,NOT_FOUND 2 9668084 . C . . NT END=9675962;NT GT ./. 2 9676052 . C . . NT END=9676826;NT GT ./. 2 9676958 . C . . NT END=9683281;NT GT ./. 2 9683415 . C . . NT END=9695637;NT GT ./. 2 9695735 . G . . NT END=9725414;NT GT ./. 2 9695888 rs55790676 G T 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9004,T/0.09964;Gene=ADAM17/NM_003183.4/1;CC=c.-154C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:373:43.46:0.00:43.46:1.00:0.00:1.00:60:75.1:0:0:96:55:44:NM_003183.4(ADAM17) c.-154C>A,NM_003183.4(ADAM17) c.-154C>A:0.11,0.11:NOT_FOUND,NOT_FOUND 2 9695906 rs12692386 A G 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3912,G/0.6088;PC=1.000;Gene=ADAM17/NM_003183.4/1;CC=c.-172T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C,G:11:0:0:0:1,10:5,295:0.18,33.83:0.00,0.00:0.18,33.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:185.0,68.9:0,0:0,0:91,66:60,77:0,45:NM_003183.4(ADAM17) c.-172T>C,NM_003183.4(ADAM17) c.-172T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 2 9725475 . C . . NT END=9727542;NT GT ./. 2 9727639 . C . . NT END=9728293;NT GT ./. 2 9728458 . C . . NT END=9731520;NT GT ./. 2 9731645 . C . . NT END=9770287;NT GT ./. 2 9770050 rs13417081 A G 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5206,G/0.4794;Gene=YWHAQ/NM_006826.3/1;CC=c.294+238T>C;VC=Intron;DM=YWHAQ/14-3-3;DM=YWHAQ/14-3-3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:253:29.52:29.52:0.00:1.00:1.00:0.00:60:31.0:0:0:66:83:22:NM_006826.2(YWHAQ) c.294+238T>C,NM_006826.2(YWHAQ) c.294+238T>C:0.46,0.46:NOT_FOUND,NOT_FOUND 2 9770582 . g . . NT END=9789436;NT GT ./. 2 9789403 rs12615784 T C 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.8405,C/0.1595 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:40:36:0:0:20,1,19:607,8,610:58.40,-0.07,0.00:40.28,-0.02,0.00:18.13,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:52.5,41.0,17.0:0,0,0:0,0,0:76,47,43:75,102,107:35,0,33:chr2 g.9789402T>C (intergenic),-:0.18,-:NOT_FOUND,- 2 9789518 . C . . NT END=9983670;NT GT ./. 2 9983591 rs35818430 A AG 241 nt VT=INS;SST=Single;DP=69;DB;DBA=NA;PAF=A/0,AG/0.998,AGGCTTCTCCGGCCGGAAG/0.001997;NP=641;PC=0.009;Gene=TAF1B/NM_005680.2/1;CC=c.-79dupG;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:G,AG:69:59:67:0:2,67:58,2103:3.70,241.37:1.45,164.02:2.24,77.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.5,19.9:0,0:0,0:0,46:141,105:0,25:NM_005680.2(TAF1B) c.-79dupG,NM_005680.2(TAF1B) c.-79dupG:NOT_FOUND,NOT_FOUND:0.997405,0.997405 2 9983686 rs2303914 G T 130 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.4593,T/0.5407;PC=0.995;Gene=TAF1B/NM_005680.2/1;CC=c.16G>T;ProtCh=p.A6S;VC=Missense;DM=TAF1B/RRN7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:100:66:0:0:53,47:1739,1376:0.00,129.85:0.00,46.03:0.00,83.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,63.1:0,0:0,0:62,81:65,53:33,26:-,NM_005680.2(TAF1B) c.16G>T (p.Ala6Ser):-,0.56:-,0.444703 2 9983689 . G . . NT END=9985348;NT GT ./. 2 9983716 rs385513 A C 279 nt VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.07308,C/0.9269,T/.;Gene=TAF1B/NM_005680.2/1;CC=c.18+28A>C;VC=Intron;DM=TAF1B/RRN7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:80:53:0:0:1,79:10,2431:0.00,278.68:0.00,121.30:0.00,157.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:189.0,51.8:0,0:0,0:118,89:7,53:0,30:NM_005680.2(TAF1B) c.18+28A>C,NM_005680.2(TAF1B) c.18+28A>C:0.94,0.94:0.926523,0.926523 2 9985448 . G . . NT END=9989501;NT GT ./. 2 9985606 rs287986 T C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8431,C/0.1569;Gene=TAF1B/NM_005680.2/1;CC=c.117+159T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:C,T:9:0:0:0:4,5:141,166:13.32,0.00:0.00,0.00:13.32,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:35.2,14.0:0,0:0,0:113,87:38,64:5,24:NM_005680.2(TAF1B) c.117+159T>C,-:0.15,-:NOT_FOUND,- 2 9985670 rs2245344 T C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4529,C/0.5471;PC=0.001;Gene=TAF1B/NM_005680.2/1;CC=c.117+223T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:0:0:0:3,1:92,32:9.65,0.00:0.00,0.00:9.65,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:30.7,36.0:0,0:0,0:96,150:55,1:31,0:NM_005680.2(TAF1B) c.117+223T>C,-:0.56,-:NOT_FOUND,- 2 9989590 . G . . NT END=9991669;NT GT ./. 2 9991556 rs287991 G A 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.003994,A/0.996;Gene=TAF1B/NM_005680.2/1;CC=c.206-114G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:1:13:406:46.80:46.80:0.00:1.00:1.00:0.00:60:41.2:1:0:46:105:45:NM_005680.2(TAF1B) c.206-114G>A,NM_005680.2(TAF1B) c.206-114G>A:1,1:NOT_FOUND,NOT_FOUND 2 9991768 . G . . NT END=9994454;NT GT ./. 2 9991867 rs287992 G A 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8446,A/0.1554;Gene=TAF1B/NM_005680.2/1;CC=c.303+100G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:1:0:0:9,8:257,285:24.87,0.00:1.59,0.00:23.28,0.00:1.00,0.00:0.69,0.00:1.00,0.00:60,60:36.7,6.5:0,0:0,0:107,98:44,52:26,22:NM_005680.2(TAF1B) c.303+100G>A,-:0.16,-:NOT_FOUND,- 2 9994551 . G . . NT END=10008404;NT GT ./. 2 10008559 . G . . NT END=10015993;NT GT ./. 2 10016148 . G . . NT END=10022834;NT GT ./. 2 10022935 . G . . NT END=10044987;NT GT ./. 2 10023016 rs447465 T C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8363,C/0.1637;Gene=TAF1B/NM_005680.2/1;CC=c.807+82T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:12:1:0:0:6,6:203,190:19.55,0.00:-0.30,0.00:19.85,0.00:0.98,0.00:0.67,0.00:1.00,0.00:60,60:37.8,5.8:0,0:0,0:115,100:35,51:13,44:NM_005680.2(TAF1B) c.807+82T>C,-:0.17,-:NOT_FOUND,- 2 10023105 rs382747 G T 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8365,T/0.1635;Gene=TAF1B/NM_005680.2/1;CC=c.807+171G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:G,T:7:0:0:0:4,3:127,91:0.00,8.45:0.00,0.00:0.00,8.45:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,40.3:0,0:0,0:85,85:65,65:44,40:-,NM_005680.2(TAF1B) c.807+171G>T:-,0.17:-,NOT_FOUND 2 10044827 rs564933 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5783,A/0.4217;Gene=TAF1B/NM_005680.2/1;CC=c.808-161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:11:11:0:0:7,4:228,125:23.00,0.00:23.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:72.9,7.8:0,0:0,0:60,53:90,97:31,23:NM_005680.2(TAF1B) c.808-161G>A,-:0.47,-:NOT_FOUND,- 2 10044875 rs565683 A G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5687,G/0.4313;Gene=TAF1B/NM_005680.2/1;CC=c.808-113A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:15:14:0:0:8,7:255,181:0.00,16.86:0.00,15.41:0.00,1.45:0.00,0.99:0.00,1.00:0.00,0.76:60,60:52.8,91.4:0,0:0,0:27,77:118,74:22,31:-,NM_005680.2(TAF1B) c.808-113A>G:-,0.48:-,NOT_FOUND 2 10044941 rs450192 G T 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5697,T/0.4303;Gene=TAF1B/NM_005680.2/1;CC=c.808-47G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:34:27:0:0:14,20:468,643:0.00,63.84:0.00,42.96:0.00,20.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:84.6,124.5:0,0:0,0:41,30:101,120:20,20:-,NM_005680.2(TAF1B) c.808-47G>T:-,0.48:-,0.484043 2 10044946 rs450194 G T 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.7794,T/0.2206;Gene=TAF1B/NM_005680.2/1;CC=c.808-42G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:37:29:0:0:15,22:486,692:0.00,68.83:0.00,46.92:0.00,21.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:86.0,121.8:0,0:0,0:42,32:98,116:28,20:-,NM_005680.2(TAF1B) c.808-42G>T:-,0.24:-,0.246369 2 10044951 rs2052948 A G 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.6398,G/0.3602;Gene=TAF1B/NM_005680.2/1;CC=c.808-37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:27:0:0:21,14:696,443:0.00,40.75:0.00,24.80:0.00,15.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:124.4,84.3:0,0:0,0:36,51:112,90:19,27:-,NM_005680.2(TAF1B) c.808-37A>G:-,0.35:-,0.303269 2 10045014 rs400917 C T 166 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.1803,A/.,T/0.8197;PC=0.960;Gene=TAF1B/NM_005680.2/1;CC=c.834C>T;ProtCh=p.Y278=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:T:45:34:0:0:45:1443:165.66:101.10:64.56:1.00:1.00:1.00:60:103.4:0:0:80:68:24:NM_005680.2(TAF1B) c.=,NM_005680.2(TAF1B) c.=:0.86,0.86:0.851761,0.851761 2 10045024 rs396190 G A 168 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.06789,A/0.9321;PC=0.006;Gene=TAF1B/NM_005680.2/1;CC=c.844G>A;ProtCh=p.V282I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A:45:34:0:0:45:1465:167.95:103.51:64.44:1.00:1.00:1.00:60:101.5:0:0:82:67:27:NM_005680.2(TAF1B) c.=,NM_005680.2(TAF1B) c.=:0.95,0.95:0.930801,0.930801 2 10045136 . G . . NT END=10050864;NT GT ./. 2 10045147 rs448327 A G 140 nt VT=SNV;PN=G;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.05851,G/0.9415;Gene=TAF1B/NM_005680.2/1;CC=c.955+12A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G:38:17:0:0:38:1225:140.49:40.77:99.73:1.00:1.00:1.00:60:49.4:0:0:78:66:28:NM_005680.2(TAF1B) c.955+12A>G,NM_005680.2(TAF1B) c.955+12A>G:0.96,0.96:0.939259,0.939259 2 10050947 rs1054561 T C 84 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.5687,C/0.4313;PC=1.000;Gene=TAF1B/NM_005680.2/1;CC=c.1038T>C;ProtCh=p.A346=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:38:0:0:28,32:886,1081:83.94,0.00:36.88,0.00:47.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:83.3,4.1:0,0:0,0:78,75:66,66:38,33:NM_005680.2(TAF1B) c.1038T>C (p.(=)),-:0.48,-:0.513071,- 2 10050960 rs1054565 A G 96 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.5687,G/0.4313;PC=0.850;Gene=TAF1B/NM_005680.2/1;CC=c.1051A>G;ProtCh=p.T351A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:61:34:0:0:31,30:970,1001:0.00,96.05:0.00,46.05:0.00,50.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,80.2:0,0:0,0:71,82:73,61:23,43:-,NM_005680.2(TAF1B) c.1051A>G (p.Thr351Ala):-,0.48:-,0.512994 2 10051043 . G . . NT END=10051639;NT GT ./. 2 10051053 rs10495576 G C 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=TAF1B/NM_005680.2/1;CC=c.1133+11G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:44:15:0:0:23,21:722,672:69.88,0.00:14.68,0.00:55.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.7,6.6:0,0:0,0:76,79:70,68:33,25:NM_005680.2(TAF1B) c.1133+11G>C,-:0.48,-:0.515454,- 2 10051161 rs2241665 T C 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5687,C/0.4313;PC=0.003;Gene=TAF1B/NM_005680.2/1;CC=c.1133+119T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:9,6:238,200:23.69,0.00:0.00,0.00:23.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.7,21.2:0,0:0,0:106,77:44,72:37,45:NM_005680.2(TAF1B) c.1133+119T>C,-:0.48,-:NOT_FOUND,- 2 10051687 . G . . NT END=10053287;NT GT ./. 2 10051792 rs2241664 A G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7794,G/0.2206;Gene=TAF1B/NM_005680.2/1;CC=c.1180+106A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,G:13:1:0:0:9,4:273,124:0.00,10.82:0.00,-0.08:0.00,10.90:0.00,0.79:0.00,0.54:0.00,0.79:60,60:12.9,38.8:0,0:0,0:103,115:48,35:39,19:-,NM_005680.2(TAF1B) c.1180+106A>G:-,0.24:-,NOT_FOUND 2 10053379 . G . . NT END=10059169;NT GT ./. 2 10053412 rs12467598 C T 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.5687,T/0.4313;Gene=TAF1B/NM_005680.2/1;CC=c.1271+34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:13:0:0:19,12:610,397:0.00,36.44:0.00,3.91:0.00,32.53:0.00,1.00:0.00,0.99:0.00,1.00:60,60:12.7,36.8:0,0:0,0:68,88:82,62:41,26:-,NM_005680.2(TAF1B) c.1271+34C>T:-,0.48:-,0.512686 2 10059097 rs2303921 A C 58 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.4978,C/0.5022;Gene=TAF1B/NM_005680.2/1;CC=c.1272-73A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:36:0:0:25,18:729,617:0.00,57.61:0.00,44.85:0.00,12.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,37.3:0,0:0,0:38,55:112,95:27,25:-,NM_005680.2(TAF1B) c.1272-73A>C:-,0.49:-,NOT_FOUND 2 10059241 . G . . NT END=10059726;NT GT ./. 2 10059545 rs1820967 A G 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5617,G/0.4383;Gene=TAF1B/NM_005680.2/1;CC=c.1343-182A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C,G:14:11:0:0:5,1,8:160,11,248:0.00,0.37,24.81:0.00,0.37,16.43:0.00,0.00,8.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.93:60,60,60:7.8,239.0,57.4:0,0,0:0,0,0:72,114,42:78,37,107:16,0,23:-,NM_005680.2(TAF1B) c.1343-182A>G:-,0.49:-,NOT_FOUND 2 10059620 rs1820966 G C 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.5617,C/0.4383;PC=0.003;Gene=TAF1B/NM_005680.2/1;CC=c.1343-107G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:26:0:0:14,14:442,422:42.45,0.00:35.50,0.00:6.95,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:47.1,3.3:0,0:0,0:37,57:114,94:33,17:NM_005680.2(TAF1B) c.1343-107G>C,-:0.49,-:NOT_FOUND,- 2 10059770 rs1820965 G T 131 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.5585,T/0.4415;PC=0.969;Gene=TAF1B/NM_005680.2/1;CC=c.1386G>T;ProtCh=p.E462D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:90:69:0:0:47,43:1540,1376:0.00,131.07:0.00,89.02:0.00,42.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,39.1:0,0:0,0:64,60:80,90:30,32:-,NM_005680.2(TAF1B) c.1386G>T (p.Glu462Asp):-,0.49:-,0.515301 2 10059950 . G . . NT END=10073911;NT GT ./. 2 10074114 . G . . NT END=10091962;NT GT ./. 2 10091983 . G . . NT END=10095043;NT GT ./. 2 10094765 rs4669511 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8616,A/0.1384;Gene=GRHL1/NM_198182.2/1;CC=c.21-279G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:5:5:0:0:4,1:137,32:14.52,0.00:12.58,0.00:1.94,0.00:0.96,0.00:0.96,0.00:0.87,0.00:60,60:34.2,40.0:0,0:0,0:112,64:38,83:9,0:NM_198182.2(GRHL1) c.21-279G>A,-:0.16,-:NOT_FOUND,- 2 10094992 rs2303918 A G 219 nt VT=SNV;PN=T;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.4026,G/0.5974;PC=0.002;Gene=GRHL1/NM_198182.2/1;CC=c.21-52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:51:0:0:58:1914:219.01:154.10:64.90:1.00:1.00:1.00:60:41.8:0:0:50:97:29:NM_198182.2(GRHL1) c.21-52A>G,NM_198182.2(GRHL1) c.21-52A>G:0.62,0.62:NOT_FOUND,NOT_FOUND 2 10095231 . G . . NT END=10098914;NT GT ./. 2 10095374 rs13401891 C T 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.8143,T/0.1857;Gene=GRHL1/NM_198182.2/1;CC=c.207+144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:0:0:0:13,13:429,376:0.00,35.92:0.00,0.00:0.00,35.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.2,44.7:0,0:0,0:102,125:49,26:21,21:-,NM_198182.2(GRHL1) c.207+144C>T:-,0.17:-,NOT_FOUND 2 10099094 . G . . NT END=10101174;NT GT ./. 2 10101566 . G . . NT END=10102583;NT GT ./. 2 10102661 . G . . NT END=10104014;NT GT ./. 2 10104172 . G . . NT END=10104363;NT GT ./. 2 10104476 . G . . NT END=10105415;NT GT ./. 2 10105511 . G . . NT END=10126251;NT GT ./. 2 10105584 rs111854908 AT A 8 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=14;PC=0.001;Gene=GRHL1/NM_198182.2/1;CC=c.1110+87delT;VC=Intron;DM=GRHL1/CP2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:AT,I,A:18:4:2:3:13,2,3:377,65,97:0.00,4.89,7.78:0.00,-0.08,4.28:0.00,4.97,3.50:0.00,0.00,0.52:0.00,0.00,0.53:0.00,0.00,0.89:60,60,60:11.7,0.0,8.0:0,0,0:0,0,0:111,114,114:40,36,37:19,12,1:-,NM_198182.2(GRHL1) c.1110+75delT:-,NOT_FOUND:-,NOT_FOUND 2 10126123 rs1835424 A T 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7652,T/0.2348;PC=0.155;Gene=GRHL1/NM_198182.2/1;CC=c.1111-129A>T;VC=Intron;DM=GRHL1/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,T:16:16:0:0:12,4:372,131:0.00,11.11:0.00,11.17:0.00,-0.06:0.00,0.75:0.00,0.75:0.00,0.50:60,60:31.1,38.5:0,0:0,0:67,46:83,105:25,27:-,NM_198182.2(GRHL1) c.1111-129A>T:-,0.26:-,NOT_FOUND 2 10126330 rs2303920 G A 131 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.7372,A/0.2628;PC=1.000;Gene=GRHL1/NM_198182.2/1;CC=c.1189G>A;ProtCh=p.V397I;VC=Missense;DM=GRHL1/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:60:0:0:41,39:1357,1294:131.20,0.00:78.47,0.00:52.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.7,14.9:0,0:0,0:62,74:86,76:38,44:NM_198182.2(GRHL1) c.1189G>A (p.Val397Ile),-:0.29,-:0.246502,- 2 10126411 . G . . NT END=10130823;NT GT ./. 2 10126416 rs16867274 A G 246 nt VT=SNV;PN=G;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.4976,G/0.5024;PC=0.174;Gene=GRHL1/NM_198182.2/1;CC=c.1269+6A>G;VC=Intron;DM=GRHL1/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:67:32:0:0:67:2142:245.97:80.50:165.47:1.00:1.00:1.00:60:46.8:0:0:96:50:26:NM_198182.2(GRHL1) c.1269+6A>G,NM_198182.2(GRHL1) c.1269+6A>G:0.5,0.5:0.507535,0.507535 2 10130902 . G . . NT END=10132134;NT GT ./. 2 10130973 rs12475243 T G 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7368,G/0.2632;PC=0.013;Gene=GRHL1/NM_198182.2/1;CC=c.1321+98T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:4:0:0:17,13:550,401:54.21,0.00:5.18,0.00:49.03,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:48.5,30.0:0,0:0,0:120,100:31,51:17,39:NM_198182.2(GRHL1) c.1321+98T>G,-:0.29,-:NOT_FOUND,- 2 10131061 rs397868573 AG G,A 37 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=267;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:G,A:20:0:0:11:9,11:264,347:27.56,37.09:0.00,0.00:27.56,37.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:66.6,83.2:0,0:0,0:92,93:59,58:20,30:NM_198182.2(GRHL1) c.1321+186delA,NM_198182.2(GRHL1) c.1321+187delG:NOT_FOUND,0.28:NOT_FOUND,NOT_FOUND 2 10131078 rs1430621 C A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.765,A/0.235;Gene=GRHL1/NM_198182.2/1;CC=c.1321+203C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:0:0:0:10,7:329,227:32.67,0.00:0.00,0.00:32.67,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:88.1,49.6:0,0:0,0:99,101:51,50:33,12:NM_198182.2(GRHL1) c.1321+203C>A,-:0.26,-:NOT_FOUND,- 2 10131094 rs1367388 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.737,C/0.263;Gene=GRHL1/NM_198182.2/1;CC=c.1321+219T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:13:0:0:0:7,6:214,186:20.84,0.00:0.00,0.00:20.84,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:97.1,49.5:0,0:0,0:102,115:49,36:22,10:NM_198182.2(GRHL1) c.1321+219T>C,-:0.29,-:NOT_FOUND,- 2 10131122 rs1367389 C T 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.765,T/0.235;PC=0.001;Gene=GRHL1/NM_198182.2/1;CC=c.1321+247C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,T:9:0:0:0:4,5:104,141:0.00,13.77:0.00,0.00:0.00,13.77:0.00,0.96:0.00,0.00:0.00,0.96:60,60:57.8,97.4:0,0:0,0:137,112:14,39:6,12:-,NM_198182.2(GRHL1) c.1321+247C>T:-,0.26:-,NOT_FOUND 2 10132118 . A AT 21 idl,rn VT=INS;SST=Single;DP=79;Gene=GRHL1/NM_198182.2/1;CC=c.1322-4_1322-3insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:A,C,T,AT,D:78:67:10:6:61,1,1,10,5:1843,14,13,292,185:0.00,-0.06,-0.11,21.43,9.88:0.00,0.04,-0.25,11.77,6.29:0.00,-0.10,0.14,9.67,3.58:0.00,0.00,0.00,0.98,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.97,0.00:60,60,60,60,60:20.0,150.0,25.0,24.4,3.2:0,0,0,0,1:0,0,0,0,0:44,35,70,40,84:101,115,81,109,67:28,0,0,27,36:-,NM_198182.2(GRHL1) c.1322-17_1322-16insT:-,NOT_FOUND:-,NOT_FOUND 2 10132275 . G . . NT END=10133334;NT GT ./. 2 10132515 rs34950562 C T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7871,T/0.2129;PC=0.033;Gene=GRHL1/NM_198182.2/1;CC=c.1461+241C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:4:0:0:0:2,2:55,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,34.5:0,0:0,0:72,115:78,36:5,21:-,NM_198182.2(GRHL1) c.1461+241C>T:-,0.23:-,NOT_FOUND 2 10133284 rs12618788 C T 55 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.7975,T/0.2025;Gene=GRHL1/NM_198182.2/1;CC=c.1462-51C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:27:0:0:17,18:573,569:0.00,54.94:0.00,29.42:0.00,25.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,35.7:0,0:0,0:36,38:112,110:19,10:-,NM_198182.2(GRHL1) c.1462-51C>T:-,0.22:-,0.154928 2 10133373 . G . . NT END=10136006;NT GT ./. 2 10135855 rs11674576 T C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7786,C/0.2214;Gene=GRHL1/NM_198182.2/1;CC=c.1500-152T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:17:17:0:0:6,11:200,352:18.07,0.00:18.07,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:42.8,7.7:0,0:0,0:74,53:77,98:25,26:NM_198182.2(GRHL1) c.1500-152T>C,-:0.2,-:NOT_FOUND,- 2 10135956 rs41264205 G A 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.8099,A/0.1901;Gene=GRHL1/NM_198182.2/1;CC=c.1500-51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:39:0:0:24,23:732,740:70.47,0.00:58.12,0.00:12.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.0,2.8:0,0:0,0:52,52:99,98:26,30:NM_198182.2(GRHL1) c.1500-51G>A,-:0.17,-:0.207827,- 2 10136099 . G . . NT END=10136443;NT GT ./. 2 10136530 . G . . NT END=10139092;NT GT ./. 2 10138991 . CGT T,C 10 nt VT=DEL;SST=Single;DP=4;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:T,C:4:4:0:3:1,3:33,89:3.18,9.95:1.59,9.95:1.59,0.00:0.00,0.85:0.00,0.85:0.00,0.83:60,60:132.0,71.7:0,2:0,0:15,19:136,132:0,9:NM_198182.2(GRHL1) c.1678-102_1678-101delCG,NM_198182.2(GRHL1) c.1678-101_1678-100delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 10139015 rs370547914 T TATAC 31 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9836,TAC/0.007188,TATAC/.,TGTAC/0.009185;NP=1;NP=1;NP=1;Gene=GRHL1/NM_198182.2/1;CC=c.1678-77_1678-76insTACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:T,TATAC:10:9:9:0:1,9:33,279:0.00,30.78:0.00,23.62:0.00,7.16:0.00,1.00:0.00,1.00:0.00,1.00:60,70:31.0,65.1:1,0:0,0:11,16:139,134:0,8:-,NM_198182.2(GRHL1) c.1678-78_1678-77insATAC:-,NOT_FOUND:-,NOT_FOUND 2 10139017 rs35173307 C T,CAT 34 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9896,T/0.01038;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=17;NP=27;NP=354 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:9:T,CAT:11:9:1:0:10,1:292,32:33.52,2.64:22.93,2.64:10.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:59.7,31.0:9,0:0,0:26,13:124,137:13,0:NM_198182.2(GRHL1) c.1678-76C>T,NM_198182.2(GRHL1) c.1678-76_1678-75insAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 10139158 . G . . NT END=10140720;NT GT ./. 2 10140651 rs2163338 A G 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.6074,G/0.3926;Gene=GRHL1/NM_198182.2/1;CC=c.1743-70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:G:25:22:0:0:25:716:83.23:65.44:17.78:1.00:1.00:1.00:60:35.8:0:0:28:122:25:NM_198182.2(GRHL1) c.1743-70A>G,NM_198182.2(GRHL1) c.1743-70A>G:0.4,0.4:NOT_FOUND,NOT_FOUND 2 10140836 . A . . NT END=10183843;NT GT ./. 2 10140981 rs934303 C T 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6074,T/0.3926;Gene=GRHL1/NM_198182.2/1;CC=c.*146C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:260:30.28:0.00:30.28:1.00:0.00:1.00:60:43.7:0:0:92:58:23:NM_198182.2(GRHL1) c.*146C>T,NM_198182.2(GRHL1) c.*146C>T:0.4,0.4:NOT_FOUND,NOT_FOUND 2 10183358 . T G 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;PC=0.148 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:G,T:5:0:0:1:2,3:70,83:6.50,0.00:0.00,0.00:6.50,0.00:0.46,0.00:0.00,0.00:0.46,0.00:60,60:145.0,14.3:0,0:0,0:39,17:98,113:32,1:NM_003597.4(KLF11) c.-162-u324T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 10183376 . T G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:G,T:4:0:0:0:2,2:72,67:6.95,0.00:0.00,0.00:6.95,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:145.0,0.0:0,0:0,0:57,34:80,105:32,0:NM_003597.4(KLF11) c.-162-u306T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 10183385 rs185299561 G T,GCCGCCCCCT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:62:T,GCCGCCCCCT:4:0:2:0:2,2:64,67:6.75,7.05:0.00,0.00:6.75,7.05:0.00,0.51:0.00,0.00:0.00,0.51:60,60:145.0,0.0:0,0:0,0:66,43:71,96:32,0:NM_003597.4(KLF11) c.-162-u297G>T,NM_003597.4(KLF11) c.-162-u297_-162-u296insCCGCCCCCT:0.16,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 10183748 rs372827624 TGCC T 74 rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=TGCC/0.7143,T/0.2857;NP=27;PC=0.001;Gene=KLF11/NM_003597.4/1;CC=c.-80_-78delGCC;VC=5UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGCC,T:48:47:0:26:22,26:636,756:0.00,73.58:0.00,59.69:0.00,13.90:0.00,1.00:0.00,1.00:0.00,1.00:60,70:10.7,8.2:0,0:0,0:40,33:110,115:23,21:-,NM_003597.4(KLF11) c.-95GCC[5]:-,NOT_FOUND:-,NOT_FOUND 2 10183886 . G . . NT END=10183955;NT GT ./. 2 10183970 rs115226520 A G 230 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=172;DB;DBA=NA;PAF=A/0.8431,G/0.1569;PC=0.006;Gene=KLF11/NM_003597.4/1;CC=c.42+85A>G;VC=Intron;Gene=KLF11/NM_001177716.1/0;CC=c.-54A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:172:121:0:0:98,74:2982,2455:0.00,229.82:0.00,122.01:0.00,107.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,44.6:0,0:0,0:65,84:76,62:31,33:-,NM_003597.4(KLF11) c.42+85A>G:-,0.16:-,NOT_FOUND 2 10184015 . g . . NT END=10184371;NT GT ./. 2 10184245 rs150558373 CTTGGGGGCGGGGCAAGAGCTGCTGGCGGGAACGCGGCACGGTT C 21 sb,nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=1;Gene=KLF11/NM_003597.4/1;CC=c.42+375_42+417delAGAGCTGCTGGCGGGAACGCGGCACGGTTTTGGGGGCGGGGCA;VC=Intron;Gene=KLF11/NM_001177716.1/0;CC=c.-10+246_-10+288delAGAGCTGCTGGCGGGAACGCGGCACGGTTTTGGGGGCGGGGCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:CTTGGGGGCGGGGCAAGAGCTGCTGGCGGGAACGCGGCACGGTT,G,C:51:36:0:9:41,1,9:1201,10,274:0.00,-0.18,21.47:0.00,-0.24,20.04:0.00,0.07,1.43:0.00,0.00,0.98:0.00,0.00,0.99:0.00,0.00,0.90:60,60,60:14.6,28.0,4.3:0,0,0:0,0,0:108,102,69:30,15,82:20,0,16:-,NM_003597.4(KLF11) c.42+361_42+403delTTGGGGGCGGGGCAAGAGCTGCTGGCGGGAACGCGGCACGGTT:-,NOT_FOUND:-,NOT_FOUND 2 10184283 rs139638572 A ACG 36 idl,nt VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.3546,ACG/0.6454;NP=5;Gene=KLF11/NM_003597.4/1;CC=c.42+399_42+400dupCG;VC=Intron;Gene=KLF11/NM_001177716.1/0;CC=c.-10+270_-10+271dupCG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACG:47:40:13:9:34,13:1033,421:0.00,36.27:0.00,27.35:0.00,8.92:0.00,1.00:0.00,1.00:0.00,0.90:60,60:14.1,80.9:0,0:0,0:37,16:113,135:32,7:-,NM_003597.4(KLF11) c.42+398_42+399insCG:-,NOT_FOUND:-,NOT_FOUND 2 10184287 rs62127532 T C 38 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.3437,C/0.6563;Gene=KLF11/NM_003597.4/1;CC=c.42+402T>C;VC=Intron;Gene=KLF11/NM_001177716.1/0;CC=c.-10+273T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:48:42:0:9:2,13,1,32:20,436,12,757:0.05,38.09,-0.01,0.00:0.12,28.74,0.02,0.00:-0.06,9.35,-0.03,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.86,0.00,0.00:60,60,60,60:72.5,80.9,44.0,11.0:0,13,0,0:0,0,0,0:26,22,44,32:125,129,107,119:0,7,0,25:NM_003597.4(KLF11) c.42+402T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 10184288 rs62127533 T C 34 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.3437,C/0.6563;NP=18;Gene=KLF11/NM_003597.4/1;CC=c.42+403T>C;VC=Intron;Gene=KLF11/NM_001177716.1/0;CC=c.-10+274T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:43:0:9:13,36:403,885:34.24,0.00:26.98,0.00:7.27,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:80.9,15.0:0,0:0,0:23,33:128,118:7,25:NM_003597.4(KLF11) c.42+403T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 10184359 rs70948866 C CG 385 nt VT=INS;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.1236,CG/.,CGG/.,CGGA/0.03974,CGGG/0.8367;NP=520;Gene=KLF11/NM_003597.4/1;CC=c.42+477dupG;VC=Intron;Gene=KLF11/NM_001177716.1/0;CC=c.-10+348dupG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,CG:120:101:112:0:5,3,112:90,93,3408:0.00,5.89,385.42:0.00,-0.04,300.54:0.00,5.93,84.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.8,88.7,19.4:1,0,0:0,0,0:115,17,52:4,122,91:32,11,34:NM_003597.4(KLF11) c.42+474_42+475insG,NM_003597.4(KLF11) c.42+474_42+475insG:0.85,0.85:NOT_FOUND,NOT_FOUND 2 10184579 . G . . NT END=10186276;NT GT ./. 2 10186419 rs35927125 A G 145 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=A/0.9421,G/0.05791,T/.;PC=1.000;Gene=KLF11/NM_003597.4/1;CC=c.185A>G;ProtCh=p.Q62R;VC=Missense;Gene=KLF11/NM_001177716.1/0;CC=c.134A>G;ProtCh=p.Q45R;VC=Missense;Gene=KLF11/NM_001177718.1/0;CC=c.134A>G;ProtCh=p.Q45R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:96:54:0:0:47,49:1578,1506:0.00,145.06:0.00,44.60:0.00,100.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,34.8:0,0:0,0:79,75:66,70:30,42:-,NM_003597.4(KLF11) c.185A>G (p.Gln62Arg):-,0.06:-,0.094802 2 10186547 . G . . NT END=10187776;NT GT ./. 2 10188649 rs11687357 A T 258 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.1647,T/0.8353;PC=0.003;Gene=KLF11/NM_003597.4/1;CC=c.1185A>T;ProtCh=p.V395=;VC=Silent;Gene=KLF11/NM_001177716.1/0;CC=c.1134A>T;ProtCh=p.V378=;VC=Silent;Gene=KLF11/NM_001177718.1/0;CC=c.1134A>T;ProtCh=p.V378=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:72:33:0:0:1,71:13,2258:0.00,257.65:0.00,91.13:0.00,166.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,38.5:0,0:0,0:150,92:1,59:0,29:NM_003597.4(KLF11) c.=,NM_003597.4(KLF11) c.=:0.84,0.84:0.808396,0.808396 2 10188723 . G . . NT END=10192353;NT GT ./. 2 10192635 . A . . NT END=10198979;NT GT ./. 2 10192851 rs546483536 G GTT 26 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3223,GT/0.09585,GTT/0.5819;DB;DBA=NA;PAF=G/0.3223,GTT/0.5819;DB;DBA=NA;PAF=G/0.3223,GTT/0.5819;DB;DBA=NA;PAF=G/0.3223,GT/0.09585,GTT/0.5819;NP=26;NP=3;PC=0.005;Gene=KLF11/NM_003597.4/1;CC=c.*226_*227dupTT;VC=3UTR;Gene=KLF11/NM_001177716.1/0;CC=c.*226_*227dupTT;VC=3UTR;Gene=KLF11/NM_001177718.1/0;CC=c.*226_*227dupTT;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:G,GTT:11:0:9:0:3,8:102,283:0.00,25.97:0.00,0.00:0.00,25.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.7,3.6:0,1:0,0:109,104:42,47:34,22:-,NM_003597.4(KLF11) c.*218T[12]:-,NOT_FOUND:-,NOT_FOUND 2 10199086 . C . . NT END=10206030;NT GT ./. 2 10206084 . C . . NT END=10220032;NT GT ./. 2 10220351 . G . . NT END=10262745;NT GT ./. 2 10262859 rs72542787 G A 276 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=175;DB;DBA=NA;PAF=G/0.9593,A/0.04073;Gene=RRM2/NM_001165931.1/1;CC=c.114G>A;ProtCh=p.G38=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:175:123:0:0:92,1,82:2840,17,2517:275.53,0.06,0.00:145.26,-0.12,0.00:130.27,0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:55.2,17.0,30.8:0,0,0:0,0,0:67,129,63:83,22,84:41,0,35:NM_001165931.1(RRM2) c.114G>A (p.(=)),-:0.04,-:0.081946,- 2 10262920 rs1130609 T G 674 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=187;DB;DBA=NA;PAF=T/0.3482,G/0.6518;Gene=RRM2/NM_001165931.1/1;CC=c.175T>G;ProtCh=p.S59A;VC=Missense;Gene=RRM2/NM_001034.3/0;CC=c.-6T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:187:114:0:0:186,1:5884,12:674.41,0.00:300.49,0.00:373.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.2,163.0:0,0:0,0:64,76:85,73:32,0:NM_001165931.1(RRM2) c.175T>G (p.Ser59Ala),NM_001165931.1(RRM2) c.175T>G (p.Ser59Ala):0.65,0.65:0.773572,0.773572 2 10263025 . G . . NT END=10263109;NT GT ./. 2 10263185 . G . . NT END=10263513;NT GT ./. 2 10263658 . G . . NT END=10263862;NT GT ./. 2 10263980 . G . . NT END=10264843;NT GT ./. 2 10264057 rs6432065 T C 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.3437,C/0.6563;Gene=RRM2/NM_001165931.1/1;CC=c.615+78T>C;VC=Intron;Gene=RRM2/NM_001034.3/0;CC=c.435+78T>C;VC=Intron;DM=RRM2/Ribonuc_red_sm;DM=RRM2/Ribonuc_red_sm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:C,T:18:1:0:0:17,1:480,10:54.56,0.00:3.55,0.00:51.01,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:30.2,86.0:0,0:0,0:101,103:50,35:40,0:NM_001165931.1(RRM2) c.615+78T>C,NM_001165931.1(RRM2) c.615+78T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 2 10264709 rs6741290 T C 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.5617,C/0.4383;Gene=RRM2/NM_001165931.1/1;CC=c.616-135T>C;VC=Intron;Gene=RRM2/NM_001034.3/0;CC=c.436-135T>C;VC=Intron;DM=RRM2/Ribonuc_red_sm;DM=RRM2/Ribonuc_red_sm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:19:0:0:12,8:352,245:35.03,0.00:33.69,0.00:1.34,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,60:45.7,6.8:0,0:0,0:17,27:133,124:17,21:NM_001165931.1(RRM2) c.616-135T>C,-:0.45,-:NOT_FOUND,- 2 10264978 . G . . NT END=10267001;NT GT ./. 2 10265144 rs72544298 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9093,G/0.09065;PC=0.062;Gene=RRM2/NM_001165931.1/1;CC=c.749+167A>G;VC=Intron;Gene=RRM2/NM_001034.3/0;CC=c.569+167A>G;VC=Intron;DM=RRM2/Ribonuc_red_sm;DM=RRM2/Ribonuc_red_sm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:6:0:0:0:3,3:90,96:0.00,9.22:0.00,0.00:0.00,9.22:0.00,0.73:0.00,0.00:0.00,0.73:60,60:3.7,49.0:0,0:0,0:117,75:34,75:9,0:-,NM_001165931.1(RRM2) c.749+167A>G:-,0.1:-,NOT_FOUND 2 10267097 . G . . NT END=10267213;NT GT ./. 2 10267348 . G . . NT END=10268974;NT GT ./. 2 10268798 rs4668664 A G 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.347,G/0.653;Gene=RRM2/NM_001165931.1/1;CC=c.979-177A>G;VC=Intron;Gene=RRM2/NM_001034.3/0;CC=c.799-177A>G;VC=Intron;DM=RRM2/Ribonuc_red_sm;DM=RRM2/Ribonuc_red_sm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:260:29.81:29.81:0.00:1.00:1.00:0.00:60:35.4:0:0:25:125:12:NM_001165931.1(RRM2) c.979-177A>G,NM_001165931.1(RRM2) c.979-177A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 10269080 . G . . NT END=10269167;NT GT ./. 2 10269282 . G . . NT END=10269360;NT GT ./. 2 10269514 . A . . NT END=10282381;NT GT ./. 2 10282147 rs11896140 T C 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5132,C/0.4868;Gene=C2orf48/NM_182626.3/1;CC=c.72+66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:260:30.22:30.22:0.00:1.00:1.00:0.00:60:49.9:0:0:41:110:26:NM_182626.2(C2orf48) c.72+66T>C,NM_182626.2(C2orf48) c.72+66T>C:0.52,0.52:0.606001,0.606001 2 10282503 . g . . NT END=10350436;NT GT ./. 2 10282679 rs79005913 G GC 80 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.0009984,GC/0.999;DB;DBA=NA;PAF=G/0.0009984,GC/0.999;DB;DBA=NA;PAF=NA;NP=1723;PC=0.238;Gene=C2orf48/NM_182626.3/1;CC=c.193+178dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:G,GC:28:0:24:0:4,24:100,739:0.00,80.49:0.00,0.00:0.00,80.49:0.00,1.00:0.00,0.00:0.00,1.00:60,60:38.8,14.0:1,0:0,0:147,95:3,54:1,34:-,NM_182626.2(C2orf48) c.193+177_193+178insC:-,1:-,NOT_FOUND 2 10282773 rs61189179 A AG 7 end,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=353;Gene=C2orf48/NM_182626.3/1;CC=c.193+273dupG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,AG:5:0:3:0:2,3:48,73:0.00,7.26:0.00,0.00:0.00,7.26:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,49.3:1,0:0,0:123,142:28,8:25,1:-,NM_182626.2(C2orf48) c.193+271_193+272insG:-,1:-,NOT_FOUND 2 10304135 rs552368095 C CGT 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.977,T/0.02296;DB;DBA=NA;PAF=NA;NP=1;NP=257;PC=0.002;Gene=C2orf48/NM_182626.3/1;CC=c.193+21650_193+21651insTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CGT:4:4:3:0:1,3:36,86:0.00,9.05:0.00,9.35:0.00,-0.30:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,0.0:0,0:0,0:70,119:68,30:0,1:-,NM_182626.2(C2orf48) c.193+21633_193+21634insGT:-,NOT_FOUND:-,NOT_FOUND 2 10350599 rs7423163 G C 178 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.9714,C/0.02855,T/.;PC=0.001;Gene=C2orf48/NM_182626.3/1;CC=c.356G>C;ProtCh=p.W119S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:112:79:0:0:59,53:1839,1742:178.40,0.00:86.41,0.00:91.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,10.6:0,0:0,0:68,65:76,65:35,39:NM_182626.2(C2orf48) c.356G>C (p.Trp119Ser),-:0.04,-:0.067661,- 2 10350724 . A . . NT END=10559883;NT GT ./. 2 10508442 rs11888000 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6228,G/0.3772;Gene=HPCAL1/NM_002149.3/0;CC=c.-110-28519A>G;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.-283-28519A>G;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.-110-28519A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:3:0:0:1,3:32,84:0.00,8.83:0.00,3.35:0.00,5.48:0.00,0.85:0.00,0.99:0.00,0.99:60,60:56.0,28.0:0,0:0,0:138,48:13,91:0,12:-,NM_001258359.1(HPCAL1) c.-564-u448A>G:-,0.36:-,NOT_FOUND 2 10539397 rs200457390 C T 7 end;mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1;PC=0.007;Gene=HPCAL1/NM_002149.3/0;CC=c.-25+2351C>T;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.-198+2351C>T;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.-25+2351C>T;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.-25+2351C>T;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.-25+2351C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:18:17:0:0:15,3:459,92:0.00,7.11:0.00,7.51:0.00,-0.39:0.00,0.52:0.00,0.91:0.00,0.75:44,17:148.2,146.7:3,0:0,0:49,7:77,144:14,1:-,NM_001258359.1(HPCAL1) c.-25+2351C>T:-,NOT_FOUND:-,NOT_FOUND 2 10539478 . T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;NP=1;PC=0.002;Gene=HPCAL1/NM_002149.3/0;CC=c.-25+2432T>C;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.-198+2432T>C;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.-25+2432T>C;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.-25+2432T>C;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.-25+2432T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,G,T:13:12:0:0:3,1,9:93,13,243:7.81,0.41,0.00:6.37,0.48,0.00:1.44,-0.07,0.00:0.58,0.00,0.00:0.92,0.00,0.00:0.66,0.00,0.00:21,3,60:213.0,179.0,179.8:0,0,0:0,0,0:120,144,76:31,0,64:12,0,16:NM_001258359.1(HPCAL1) c.-25+2432T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 10539488 . T C 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;NP=1;PC=0.007;Gene=HPCAL1/NM_002149.3/0;CC=c.-25+2442T>C;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.-198+2442T>C;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.-25+2442T>C;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.-25+2442T>C;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.-25+2442T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:14:13:0:1:8,6:247,166:24.37,0.00:17.44,0.00:6.93,0.00:1.00,0.00:1.00,0.00:0.97,0.00:45,60:199.6,167.2:0,0:0,0:85,21:57,91:17,9:NM_001258359.1(HPCAL1) c.-25+2442T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 10539493 . T C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;PC=0.010;Gene=HPCAL1/NM_002149.3/0;CC=c.-25+2447T>C;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.-198+2447T>C;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.-25+2447T>C;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.-25+2447T>C;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.-25+2447T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,T:15:14:0:1:4,11:134,277:11.55,0.00:11.81,0.00:-0.27,0.00:0.76,0.00:0.97,0.00:0.64,0.00:46,60:231.8,179.7:0,0:0,0:58,73:70,48:40,34:NM_001258359.1(HPCAL1) c.-25+2447T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 10539496 . T C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;PC=0.007;Gene=HPCAL1/NM_002149.3/0;CC=c.-25+2450T>C;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.-198+2450T>C;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.-25+2450T>C;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.-25+2450T>C;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.-25+2450T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:16:15:0:0:8,1,7:257,13,211:25.03,0.46,0.00:22.00,0.50,0.00:3.02,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.51,0.00,0.00:46,21,60:244.6,144.0,150.1:0,0,1:0,0,0:64,138,88:77,13,54:44,0,18:NM_001258359.1(HPCAL1) c.-25+2450T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 10539532 . C T 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;PC=0.016;Gene=HPCAL1/NM_002149.3/0;CC=c.-25+2486C>T;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.-198+2486C>T;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.-25+2486C>T;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.-25+2486C>T;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.-25+2486C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:17:17:0:0:13,4:399,134:0.00,11.29:0.00,8.49:0.00,2.79:0.00,0.74:0.00,0.74:0.00,0.87:60,54:132.6,223.2:0,0:0,0:89,57:38,37:35,8:-,NM_001258359.1(HPCAL1) c.-25+2486C>T:-,NOT_FOUND:-,NOT_FOUND 2 10560262 . G . . NT END=10563108;NT GT ./. 2 10560335 . CT C 9 idl,rn VT=DEL;SST=Single;DP=69;PC=0.265;Gene=HPCAL1/NM_002149.3/0;CC=c.378+96delT;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.378+96delT;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.378+96delT;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.378+96delT;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.378+96delT;VC=Intron;DM=HPCAL1/EF-hand_7;DM=HPCAL1/EF-hand_7;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:CT,G,T,I,C:63:23:8:8:51,1,1,5,5:1531,10,10,205,235:0.00,-0.18,-0.18,7.45,9.25:0.00,-0.09,-0.09,-0.49,-0.49:0.00,-0.08,-0.08,7.94,9.73:0.00,0.00,0.00,0.00,0.66:0.00,0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.00,0.95:60,60,60,60,60:21.1,85.0,63.0,104.2,61.8:1,0,0,3,3:0,0,0,0,0:129,81,112,69,97:18,59,39,81,54:15,0,0,35,18:-,NM_001258359.1(HPCAL1) c.378+75delT:-,NOT_FOUND:-,NOT_FOUND 2 10563215 . G . . NT END=10566849;NT GT ./. 2 10563233 rs2270304 G A 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.8203,A/0.1797;Gene=HPCAL1/NM_002149.3/0;CC=c.484+19G>A;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.484+19G>A;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.484+19G>A;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.484+19G>A;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.484+19G>A;VC=Intron;DM=HPCAL1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:25:0:0:26,20:904,631:89.14,0.00:30.96,0.00:58.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,21.6:0,0:0,0:112,93:34,54:24,23:NM_001258359.1(HPCAL1) c.484+19G>A,-:0.18,-:0.193911,- 2 10563284 . C T 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;NP=1;Gene=HPCAL1/NM_002149.3/0;CC=c.484+70C>T;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.484+70C>T;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.484+70C>T;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.484+70C>T;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.484+70C>T;VC=Intron;DM=HPCAL1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:24:5:0:0:13,1,10:401,10,329:0.00,0.08,30.83:0.00,-0.03,6.39:0.00,0.11,24.43:0.00,0.00,1.00:0.00,0.00,0.92:0.00,0.00,1.00:60,60,60:62.9,10.0,40.8:0,0,0:0,0,0:118,116,116:33,35,34:31,0,17:-,NM_001258359.1(HPCAL1) c.484+70C>T:-,NOT_FOUND:-,NOT_FOUND 2 10563297 rs2270305 G A 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8231,A/0.1769;Gene=HPCAL1/NM_002149.3/0;CC=c.484+83G>A;VC=Intron;Gene=HPCAL1/NM_134421.2/1;CC=c.484+83G>A;VC=Intron;Gene=HPCAL1/NM_001258357.1/0;CC=c.484+83G>A;VC=Intron;Gene=HPCAL1/NM_001258358.1/0;CC=c.484+83G>A;VC=Intron;Gene=HPCAL1/NM_001258359.1/0;CC=c.484+83G>A;VC=Intron;DM=HPCAL1/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:4:0:0:12,10:369,336:36.04,0.00:4.56,0.00:31.48,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:64.4,46.3:0,0:0,0:112,126:39,25:29,10:NM_001258359.1(HPCAL1) c.484+83G>A,-:0.18,-:NOT_FOUND,- 2 10566948 . G . . NT END=10580849;NT GT ./. 2 10567082 rs1042953 A G 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3317,G/0.6683;PC=0.106;Gene=HPCAL1/NM_002149.3/0;CC=c.*135A>G;VC=3UTR;Gene=HPCAL1/NM_134421.2/1;CC=c.*135A>G;VC=3UTR;Gene=HPCAL1/NM_001258357.1/0;CC=c.*135A>G;VC=3UTR;Gene=HPCAL1/NM_001258358.1/0;CC=c.*135A>G;VC=3UTR;Gene=HPCAL1/NM_001258359.1/0;CC=c.*135A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:0:0:0:6,8:209,258:0.00,25.46:0.00,0.00:0.00,25.46:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.3,35.8:0,0:0,0:111,124:39,26:35,19:-,NM_001258359.1(HPCAL1) c.*135A>G:-,0.68:-,NOT_FOUND 2 10580995 . C . . NT END=10581634;NT GT ./. 2 10581086 rs111950270 AT A 13 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=30;Gene=ODC1/NM_001287189.1/0;CC=c.1242-93delA;VC=Intron;Gene=ODC1/NM_001287190.1/0;CC=c.1242-93delA;VC=Intron;Gene=ODC1/NM_001287188.1/0;CC=c.855-93delA;VC=Intron;Gene=ODC1/NM_002539.2/1;CC=c.1242-93delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:AT,I,A:35:8:2:6:27,2,6:741,67,173:0.00,4.49,13.39:0.00,-0.13,-0.41:0.00,4.61,13.79:0.00,0.00,0.89:0.00,0.00,0.73:0.00,0.00,0.99:60,60,60:9.3,0.0,9.2:0,0,0:0,0,0:128,84,88:19,66,62:19,26,37:-,NM_002539.1(ODC1) c.1242-93delA:-,NOT_FOUND:-,NOT_FOUND 2 10581850 . C . . NT END=10581942;NT GT ./. 2 10582056 . C . . NT END=10582137;NT GT ./. 2 10582301 . C . . NT END=10583355;NT GT ./. 2 10583440 . C . . NT END=10583615;NT GT ./. 2 10583698 . C . . NT END=10583827;NT GT ./. 2 10583963 . C . . NT END=10584220;NT GT ./. 2 10584394 . C . . NT END=10584599;NT GT ./. 2 10584774 . C . . NT END=10585056;NT GT ./. 2 10585159 . G . . NT END=10712196;NT GT ./. 2 10685107 rs201211787 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5419,T/0.4581;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:127:14.61:9.39:5.22:1.00:1.00:1.00:60:39.8:0:0:43:108:9:chr2 g.10685106C>T (intergenic),chr2 g.10685106C>T (intergenic):0.7,0.7:NOT_FOUND,NOT_FOUND 2 10685243 rs13024441 G A 15 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6765,A/0.3235 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:134:15.31:1.99:13.32:1.00:1.00:1.00:60:41.0:0:0:83:67:37:chr2 g.10685242G>A (intergenic),chr2 g.10685242G>A (intergenic):0.36,0.36:NOT_FOUND,NOT_FOUND 2 10711941 rs10172924 C A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.001398,A/0.9986;NP=736;Gene=NOL10/NM_001261392.1/0;CC=c.*256G>T;VC=3UTR;Gene=NOL10/NM_001261394.1/0;CC=c.*256G>T;VC=3UTR;Gene=NOL10/NM_024894.3/1;CC=c.*256G>T;VC=3UTR;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:198:22.66:22.66:0.00:1.00:1.00:0.00:60:42.0:0:0:91:59:27:NM_024894.3(NOL10) c.=,NM_024894.3(NOL10) c.=:1,1:NOT_FOUND,NOT_FOUND 2 10712317 . C . . NT END=10717761;NT GT ./. 2 10717489 rs6748036 C T 19 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4093,T/0.5907;Gene=NOL10/NM_001261392.1/0;CC=c.1869+273G>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1797+273G>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1947+273G>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:161:18.89:17.05:1.84:1.00:1.00:1.00:60:60.7:0:0:42:108:16:NM_024894.3(NOL10) c.1947+273G>A,NM_024894.3(NOL10) c.1947+273G>A:0.61,0.61:NOT_FOUND,NOT_FOUND 2 10717548 rs10929677 A G 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7171,G/0.2829;Gene=NOL10/NM_001261392.1/0;CC=c.1869+214T>C;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1797+214T>C;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1947+214T>C;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,G:8:7:0:0:1,7:34,215:0.00,23.53:0.00,20.21:0.00,3.32:0.00,1.00:0.00,1.00:0.00,0.92:60,60:0.0,61.3:0,0:0,0:45,97:106,53:0,27:-,NM_024894.3(NOL10) c.1947+214T>C:-,0.3:-,NOT_FOUND 2 10717714 rs12473957 G C 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7171,C/0.2829;Gene=NOL10/NM_001261392.1/0;CC=c.1869+48C>G;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1797+48C>G;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1947+48C>G;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:18:0:0:12,7:412,232:41.49,0.00:29.46,0.00:12.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,25.6:0,0:0,0:48,17:102,123:37,13:NM_024894.3(NOL10) c.1947+48C>G,-:0.3,-:0.359308,- 2 10717806 rs2287059 C T 74 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.8666,T/0.1334;PC=0.997;Gene=NOL10/NM_001261392.1/0;CC=c.1825G>A;ProtCh=p.D609N;VC=Missense;Gene=NOL10/NM_001261394.1/0;CC=c.1753G>A;ProtCh=p.D585N;VC=Missense;Gene=NOL10/NM_024894.3/1;CC=c.1903G>A;ProtCh=p.D635N;VC=Missense;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:39:0:0:31,24:997,793:0.00,74.37:0.00,41.69:0.00,32.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,33.0:0,0:0,0:72,60:72,91:22,25:-,NM_024894.3(NOL10) c.1903G>A (p.Asp635Asn):-,0.17:-,0.220975 2 10717865 . C . . NT END=10729168;NT GT ./. 2 10718007 rs7570118 G T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4101,T/0.5899;Gene=NOL10/NM_001261392.1/0;CC=c.1767-143C>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1695-143C>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1845-143C>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:G,T:7:0:0:0:2,5:62,166:0.00,17.17:0.00,0.00:0.00,17.17:0.00,0.98:0.00,0.00:0.00,0.98:60,60:5.0,41.0:0,0:0,0:134,110:16,40:5,3:-,NM_024894.3(NOL10) c.1845-143C>A:-,0.61:-,NOT_FOUND 2 10728972 rs35516187 C T 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8668,T/0.1332;PC=0.001;Gene=NOL10/NM_001261392.1/0;CC=c.1766+197G>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1694+197G>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1844+197G>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:9,20:308,600:0.00,61.71:0.00,61.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.6,45.7:0,0:0,0:69,42:81,109:23,29:-,NM_024894.3(NOL10) c.1844+197G>A:-,0.17:-,NOT_FOUND 2 10729032 rs6714787 C T 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.7171,T/0.2829;PC=0.002;Gene=NOL10/NM_001261392.1/0;CC=c.1766+137G>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1694+137G>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1844+137G>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:38:0:0:26,13:823,445:0.00,39.93:0.00,40.19:0.00,-0.26:0.00,1.00:0.00,1.00:0.00,0.63:60,60:31.6,39.9:0,0:0,0:67,62:82,87:22,43:-,NM_024894.3(NOL10) c.1844+137G>A:-,0.3:-,NOT_FOUND 2 10729417 . C . . NT END=10729703;NT GT ./. 2 10729554 rs759402 A T 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4095,T/0.5905;Gene=NOL10/NM_001261392.1/0;CC=c.1519-138T>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1447-138T>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1597-138T>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:12:0:0:29,17:931,544:0.00,49.37:0.00,19.02:0.00,30.35:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.0,35.4:0,0:0,0:91,74:60,74:23,46:-,NM_024894.3(NOL10) c.1597-138T>A:-,0.61:-,NOT_FOUND 2 10729878 . C . . NT END=10740978;NT GT ./. 2 10729897 rs759403 C T 82 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.4095,T/0.5905;Gene=NOL10/NM_001261392.1/0;CC=c.1345-20G>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1273-20G>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1423-20G>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:9:0:0:14,24:454,817:0.00,82.29:0.00,8.21:0.00,74.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,35.5:0,0:0,0:106,98:35,51:27,34:-,NM_024894.3(NOL10) c.1423-20G>A:-,0.61:-,0.589341 2 10740729 rs35824010 CAAAT C 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CAAAT/0.4109,C/0.5891;DB;DBA=NA;PAF=CAAAT/0.4109,C/0.5891;NP=302;Gene=NOL10/NM_001261392.1/0;CC=c.1344+246_1344+249delATTT;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1272+246_1272+249delATTT;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1422+246_1422+249delATTT;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CAAAT,C:6:6:0:3:3,3:102,94:0.00,9.02:0.00,9.02:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,13.7:0,0:0,0:13,83:138,68:1,43:-,NM_024894.3(NOL10) c.1422+246_1422+249delATTT:-,NOT_FOUND:-,NOT_FOUND 2 10741069 . C . . NT END=10742901;NT GT ./. 2 10741141 rs10181806 A G 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.4105,G/0.5895;Gene=NOL10/NM_001261392.1/0;CC=c.1255-73T>C;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1183-73T>C;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1333-73T>C;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:3:0:0:12,12:374,374:0.00,35.89:0.00,2.92:0.00,32.97:0.00,1.00:0.00,0.89:0.00,1.00:60,60:9.5,39.3:0,0:0,0:97,101:39,50:24,21:-,NM_024894.3(NOL10) c.1333-73T>C:-,0.61:-,NOT_FOUND 2 10743001 . C . . NT END=10743203;NT GT ./. 2 10743153 rs2287061 C T 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4103,T/0.5897;Gene=NOL10/NM_001261392.1/0;CC=c.1155+51G>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1083+51G>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1233+51G>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:18:0:0:15,16:497,460:0.00,44.26:0.00,25.00:0.00,19.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,71.0:0,0:0,0:79,36:72,114:48,28:-,NM_024894.3(NOL10) c.1233+51G>A:-,0.61:-,0.595435 2 10743191 rs2287062 G A 60 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.4103,A/0.5897;Gene=NOL10/NM_001261392.1/0;CC=c.1155+13C>T;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1083+13C>T;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1233+13C>T;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:21:0:0:20,14:608,473:60.30,0.00:33.09,0.00:27.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.5,8.0:0,0:0,0:71,73:78,77:32,42:NM_024894.3(NOL10) c.1233+13C>T,-:0.61,-:0.589434,- 2 10743284 . C . . NT END=10747310;NT GT ./. 2 10747013 rs6744599 C G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4103,G/0.5897;Gene=NOL10/NM_001261392.1/0;CC=c.1075+298G>C;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1003+298G>C;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1153+298G>C;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G:4:4:0:0:1,3:35,81:0.00,8.51:0.00,8.51:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,51.0:0,0:0,0:46,39:104,110:0,13:-,NM_024894.3(NOL10) c.1153+298G>C:-,0.61:-,NOT_FOUND 2 10747207 rs6759714 A G 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4103,G/0.5897;Gene=NOL10/NM_001261392.1/0;CC=c.1075+104T>C;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1003+104T>C;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1153+104T>C;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:21:21:0:0:14,7:415,204:0.00,17.93:0.00,18.10:0.00,-0.18:0.00,0.97:0.00,0.97:0.00,0.63:60,60:11.3,82.7:0,0:0,0:31,47:119,104:22,20:-,NM_024894.3(NOL10) c.1153+104T>C:-,0.61:-,NOT_FOUND 2 10747246 rs6744854 C G 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4103,G/0.5897;PC=0.211;Gene=NOL10/NM_001261392.1/0;CC=c.1075+65G>C;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1003+65G>C;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1153+65G>C;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:21:0:0:16,10:522,332:0.00,30.44:0.00,18.94:0.00,11.51:0.00,1.00:0.00,1.00:0.00,0.98:60,60:7.4,85.1:0,0:0,0:47,44:103,105:15,24:-,NM_024894.3(NOL10) c.1153+65G>C:-,0.61:-,NOT_FOUND 2 10747271 rs6759740 A G 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.4103,G/0.5897;Gene=NOL10/NM_001261392.1/0;CC=c.1075+40T>C;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.1003+40T>C;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.1153+40T>C;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:26:0:0:20,14:634,446:0.00,41.26:0.00,22.79:0.00,18.47:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.8,84.9:0,0:0,0:61,45:89,105:25,30:-,NM_024894.3(NOL10) c.1153+40T>C:-,0.61:-,0.597 2 10747438 . C . . NT END=10784445;NT GT ./. 2 10784499 . C . . NT END=10794606;NT GT ./. 2 10794674 . C . . NT END=10797867;NT GT ./. 2 10794774 rs145656130 G T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9986,T/0.001398;NP=2;Gene=NOL10/NM_001261392.1/0;CC=c.829-101C>A;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.757-101C>A;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.907-101C>A;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:G,T:6:1:0:0:3,3:103,98:0.00,9.42:0.00,1.74:0.00,7.69:0.00,0.73:0.00,0.67:0.00,0.73:60,60:11.3,36.0:0,0:0,0:83,131:68,20:13,0:-,NM_024894.3(NOL10) c.907-101C>A:-,0.0032:-,NOT_FOUND 2 10798018 . C . . NT END=10799297;NT GT ./. 2 10799377 . C . . NT END=10803084;NT GT ./. 2 10803171 . C . . NT END=10807343;NT GT ./. 2 10807405 . C . . NT END=10808783;NT GT ./. 2 10808776 rs111709616 C CAA 124 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=2751;PC=0.128;Gene=NOL10/NM_001261392.1/0;CC=c.452+7_452+8insTT;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.530+7_530+8insTT;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.530+7_530+8insTT;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C,CAA:35:30:34:0:1,34:28,1095:0.00,123.75:0.00,85.12:0.00,38.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,6.5:0,0:0,0:147,55:1,94:0,26:NM_024894.3(NOL10) c.530+7_530+8insTT,NM_024894.3(NOL10) c.530+7_530+8insTT:NOT_FOUND,NOT_FOUND:0.986236,0.986236 2 10808850 . C . . NT END=10811679;NT GT ./. 2 10811535 rs5829273 CT C 8 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CT/0.6334,C/0.3666;DB;DBA=NA;PAF=CT/0.6334,C/0.3666;NP=33;Gene=NOL10/NM_001261392.1/0;CC=c.386+144delA;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.464+144delA;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.464+144delA;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CT,I,C:17:19:2:5:12,2,3:406,65,166:0.00,4.92,8.23:0.00,4.92,8.23:0.00,0.00,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.00:60,60,60:29.7,75.5,27.0:0,0,2:0,0,0:69,12,89:79,138,61:45,4,32:-,NM_024894.3(NOL10) c.464+144delA:-,NOT_FOUND:-,NOT_FOUND 2 10811817 . C . . NT END=10813645;NT GT ./. 2 10813684 . C . . NT END=10815919;NT GT ./. 2 10813782 rs6748766 T C 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.01158,C/0.9884;NP=1984;Gene=NOL10/NM_001261392.1/0;CC=c.212-99A>G;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.290-99A>G;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.290-99A>G;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:1:0:0:19:608:69.83:2.04:67.79:1.00:1.00:1.00:60:44.0:0:0:84:56:33:NM_024894.3(NOL10) c.290-99A>G,NM_024894.3(NOL10) c.290-99A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 10815833 rs9287721 A G 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7804,G/0.2196;PC=0.001;Gene=NOL10/NM_001261392.1/0;CC=c.212-2150T>C;VC=Intron;Gene=NOL10/NM_001261394.1/0;CC=c.289+87T>C;VC=Intron;Gene=NOL10/NM_024894.3/1;CC=c.289+87T>C;VC=Intron;Gene=NOL10/NR_048552.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:15:13:0:0:6,9:170,302:0.00,30.12:0.00,27.24:0.00,2.88:0.00,1.00:0.00,1.00:0.00,0.78:60,60:3.3,36.8:0,0:0,0:77,62:74,89:45,28:-,NM_024894.3(NOL10) c.289+87T>C:-,0.24:-,NOT_FOUND 2 10815998 . C . . NT END=10822096;NT GT ./. 2 10822196 . C . . NT END=10824692;NT GT ./. 2 10824739 . C . . NT END=10829921;NT GT ./. 2 10829988 . G . . NT END=10862975;NT GT ./. 2 10863105 . G . . NT END=10866627;NT GT ./. 2 10866696 . G . . NT END=10894106;NT GT ./. 2 10894193 . G . . NT END=10904456;NT GT ./. 2 10904552 . G . . NT END=10908844;NT GT ./. 2 10908893 rs1198849 A G 117 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.5475,G/0.4525;PC=1.000;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.427A>G;ProtCh=p.N143D;VC=Missense;Gene=ATP6V1C2/NM_144583.3/0;CC=c.427A>G;ProtCh=p.N143D;VC=Missense;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:52:0:0:30,37:964,1198:0.00,117.47:0.00,64.15:0.00,53.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,44.3:0,0:0,0:91,63:53,80:24,22:-,NM_001039362.1(ATP6V1C2) c.427A>G (p.Asn143Asp):-,0.44:-,0.35745 2 10908937 . G . . NT END=10911964;NT GT ./. 2 10911891 rs1198850 T C 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1214,C/0.8786;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.471-74T>C;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.471-74T>C;VC=Intron;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:16:0:0:17:571:65.20:50.25:14.96:1.00:1.00:1.00:60:41.3:0:0:53:98:31:NM_001039362.1(ATP6V1C2) c.471-74T>C,NM_001039362.1(ATP6V1C2) c.471-74T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 10912064 . G . . NT END=10912667;NT GT ./. 2 10912153 rs2171773 T G 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6368,G/0.3632;PC=0.001;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.569+90T>G;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.569+90T>G;VC=Intron;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:G,T:11:0:0:0:6,5:187,169:18.27,0.00:0.00,0.00:18.27,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:36.8,0.0:0,0:0,0:59,104:91,45:24,12:NM_001039362.1(ATP6V1C2) c.569+90T>G,-:0.39,-:NOT_FOUND,- 2 10912448 rs16856614 C A 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8059,A/0.1941;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.570-220C>A;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.570-220C>A;VC=Intron;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,C:8:8:0:0:4,4:112,132:10.68,0.00:10.68,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:74.0,8.8:0,0:0,0:29,42:106,108:14,7:NM_001039362.1(ATP6V1C2) c.570-220C>A,-:0.23,-:NOT_FOUND,- 2 10912737 . G . . NT END=10914913;NT GT ./. 2 10915007 . G . . NT END=10915103;NT GT ./. 2 10915020 rs2969881 A G 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.602,G/0.398;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.731+14A>G;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.731+14A>G;VC=Intron;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:39:0:0:32,31:982,919:0.00,87.66:0.00,39.86:0.00,47.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,39.6:0,0:0,0:75,61:75,87:42,42:-,NM_001039362.1(ATP6V1C2) c.731+14A>G:-,0.37:-,0.356528 2 10915090 rs58188788 T A 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.7312,A/0.2688;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.732-14T>A;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.732-14T>A;VC=Intron;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:61:37:0:0:28,33:843,1019:79.36,0.00:47.06,0.00:32.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,25.3:0,0:0,0:61,73:88,68:27,37:NM_001039362.1(ATP6V1C2) c.732-14T>A,-:0.31,-:0.205521,- 2 10915198 . G . . NT END=10917710;NT GT ./. 2 10915449 rs13020276 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6621,A/0.3379;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.825+252G>A;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.825+252G>A;VC=Intron;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:8:0:0:0:4,4:112,102:10.71,0.00:0.00,0.00:10.71,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:33.2,10.2:0,0:0,0:130,118:21,32:8,11:NM_001039362.1(ATP6V1C2) c.825+252G>A,-:0.4,-:NOT_FOUND,- 2 10917849 . G . . NT END=10918697;NT GT ./. 2 10918068 rs77979706 TC T 11 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TC/0.7113,T/0.2887;DB;DBA=NA;PAF=TC/0.7113,T/0.2887;NP=7;PC=0.002;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.963+224delC;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.826-626delC;VC=Intron;DM=ATP6V1C2/V-ATPase_C;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:TC,T:13:0:0:4:9,4:291,128:0.00,11.22:0.00,0.00:0.00,11.22:0.00,0.79:0.00,0.00:0.00,0.79:60,60:15.9,21.5:0,0:0,0:106,108:35,41:14,18:-,NM_001039362.1(ATP6V1C2) c.963+221delC:-,0.28:-,NOT_FOUND 2 10918796 . G . . NT END=10922368;NT GT ./. 2 10922502 . G . . NT END=10923299;NT GT ./. 2 10922516 rs1686482 A C 70 nt VT=SNV;PN=A;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.6228,C/0.3772;PC=0.002;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.1194+15A>C;VC=Intron;Gene=ATP6V1C2/NM_144583.3/0;CC=c.1056+15A>C;VC=Intron;DM=ATP6V1C2/V-ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:76:38:0:0:51,25:1627,792:0.00,70.21:0.00,31.17:0.00,39.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,40.7:0,0:0,0:106,94:43,56:29,35:-,NM_001039362.1(ATP6V1C2) c.1194+15A>C:-,0.39:-,0.399585 2 10923390 . A . . NT END=10924383;NT GT ./. 2 10924453 . C . . NT END=10925059;NT GT ./. 2 10924524 rs1198873 T C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.4427,C/0.5573;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.*1135T>C;VC=3UTR;Gene=ATP6V1C2/NM_144583.3/0;CC=c.*1135T>C;VC=3UTR;Gene=PDIA6/NM_001282707.1/0;CC=c.1246-72A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.1255-72A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.1411-72A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.1270-72A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.1399-72A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:12:0:0:21,17:639,544:62.59,0.00:12.61,0.00:49.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,17.9:0,0:0,0:109,100:41,49:23,26:NM_001039362.1(ATP6V1C2) c.*1135T>C,-:0.53,-:NOT_FOUND,- 2 10924686 rs397746628 CT C 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=174;PC=0.001;Gene=ATP6V1C2/NM_001039362.1/1;CC=c.*1299delT;VC=3UTR;Gene=ATP6V1C2/NM_144583.3/0;CC=c.*1299delT;VC=3UTR;Gene=PDIA6/NM_001282707.1/0;CC=c.1246-235delA;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.1255-235delA;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.1411-235delA;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.1270-235delA;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.1399-235delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:CT,C:6:1:0:3:3,3:82,90:0.00,8.64:0.00,3.58:0.00,5.06:0.00,0.73:0.00,0.67:0.00,0.96:60,60:12.3,13.3:0,0:0,0:36,108:115,40:9,31:-,NM_001039362.1(ATP6V1C2) c.*1298T[1]:-,0.53:-,NOT_FOUND 2 10925157 . C . . NT END=10927406;NT GT ./. 2 10927345 rs1686510 T C 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.5333,C/0.4667;Gene=PDIA6/NM_001282707.1/0;CC=c.1148+62A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.1157+62A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.1313+62A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.1172+62A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.1301+62A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:39:0:0:17,22:540,680:50.53,0.00:50.53,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.4,13.0:0,0:0,0:40,54:109,96:27,35:NM_005742.2(PDIA6) c.1157+62A>G,-:0.42,-:NOT_FOUND,- 2 10927566 . C . . NT END=10928822;NT GT ./. 2 10928710 rs1734433 A C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7149,C/0.2851;PC=0.001;Gene=PDIA6/NM_001282707.1/0;CC=c.989+113T>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.998+113T>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.1154+113T>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.1013+113T>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.1142+113T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:A,C,G:16:16:0:0:9,6,1:275,152,5:0.00,13.65,-0.12:0.00,13.65,-0.12:0.00,0.00,0.00:0.00,0.95,0.00:0.00,0.95,0.00:0.00,0.00,0.00:60,60,60:10.2,90.0,81.0:0,0,0:0,0,0:38,32,99:113,118,52:27,23,0:-,NM_005742.2(PDIA6) c.998+113T>G:-,0.27:-,NOT_FOUND 2 10928777 rs2952626 A C 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.5399,C/0.4601;Gene=PDIA6/NM_001282707.1/0;CC=c.989+46T>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.998+46T>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.1154+46T>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.1013+46T>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.1142+46T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:30:0:0:18,14:582,475:0.00,44.66:0.00,32.94:0.00,11.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,68.7:0,0:0,0:50,32:88,118:35,30:-,NM_005742.2(PDIA6) c.998+46T>G:-,0.45:-,0.485238 2 10928896 . C . . NT END=10929022;NT GT ./. 2 10928906 rs1734432 T C 88 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.5393,C/0.4607;Gene=PDIA6/NM_001282707.1/0;CC=c.917-11A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.926-11A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.1082-11A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.941-11A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.1070-11A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:51:0:0:28,41:948,1324:87.93,0.00:55.74,0.00:32.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.3,3.8:0,0:0,0:106,93:44,54:25,23:NM_005742.2(PDIA6) c.926-11A>G,-:0.45,-:0.485464,- 2 10928962 rs1734431 A G 75 nt VT=SNV;PN=G;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.5395,G/0.4605;Gene=PDIA6/NM_001282707.1/0;CC=c.916+61T>C;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.925+61T>C;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.1081+61T>C;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.940+61T>C;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.1069+61T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:61:44:0:0:35,26:1099,809:0.00,75.21:0.00,40.95:0.00,34.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,52.7:0,0:0,0:72,63:79,88:53,52:-,NM_005742.2(PDIA6) c.925+61T>C:-,0.45:-,NOT_FOUND 2 10929108 . C . . NT END=10929874;NT GT ./. 2 10929133 rs1734430 A G 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.5387,G/0.4613;Gene=PDIA6/NM_001282707.1/0;CC=c.832-26T>C;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.841-26T>C;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.997-26T>C;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.856-26T>C;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.985-26T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:27:0:0:33,25:1043,836:0.00,78.31:0.00,24.65:0.00,53.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,38.7:0,0:0,0:111,106:35,44:28,31:-,NM_005742.2(PDIA6) c.841-26T>C:-,0.45:-,0.486083 2 10929602 rs1686513 T C 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4441,C/0.5559;Gene=PDIA6/NM_001282707.1/0;CC=c.831+273A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.840+273A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.996+273A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.855+273A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.984+273A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,G,T:6:5:0:0:2,1,3:69,10,96:6.37,0.49,0.00:6.55,0.57,0.00:-0.18,-0.08,0.00:0.42,0.00,0.00:0.86,0.00,0.00:0.56,0.00,0.00:60,60,60:34.5,234.0,85.3:0,0,0:0,0,0:27,37,39:123,113,112:8,0,9:NM_005742.2(PDIA6) c.840+273A>G,-:0.53,-:NOT_FOUND,- 2 10929867 rs11904084 T C 104 nt VT=SNV;PN=G;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.5397,A/.,C/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.831+8A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.840+8A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.996+8A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.855+8A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.984+8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:68:0:0:37,47:1117,1533:104.23,0.00:52.04,0.00:52.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,2.3:0,0:0,0:63,47:74,98:38,22:NM_005742.2(PDIA6) c.840+8A>G,-:0.45,-:0.48616,- 2 10930016 . C . . NT END=10930844;NT GT ./. 2 10930050 rs1686514 A T 100 nt VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.5397,T/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.691-35T>A;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.700-35T>A;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.856-35T>A;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.715-35T>A;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.844-35T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:66:24:0:0:32,34:1000,1038:0.00,100.05:0.00,24.89:0.00,75.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.5,48.5:0,0:0,0:105,101:39,46:19,22:-,NM_005742.2(PDIA6) c.700-35T>A:-,0.45:-,0.483 2 10930106 rs375949867 A AT 10 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=1;PC=0.119;Gene=PDIA6/NM_001282707.1/0;CC=c.691-92_691-91insA;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.700-92_700-91insA;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.856-92_856-91insA;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.715-92_715-91insA;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.844-92_844-91insA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,AT,D:25:6:4:6:17,4,4:513,127,187:0.00,10.11,10.11:0.00,2.61,5.26:0.00,7.50,4.85:0.00,0.00,0.66:0.00,0.00,0.59:0.00,0.00,0.93:60,60,60:23.8,20.2,52.8:0,0,2:0,0,0:140,114,111:11,35,38:8,9,3:-,NM_005742.2(PDIA6) c.700-92_700-91insA:-,NOT_FOUND:-,NOT_FOUND 2 10930266 rs1734417 G A 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5387,A/0.4613;PC=0.006;Gene=PDIA6/NM_001282707.1/0;CC=c.691-251C>T;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.700-251C>T;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.856-251C>T;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.715-251C>T;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.844-251C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:8:0:0:0:3,5:86,164:7.73,0.00:0.00,0.00:7.73,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:96.0,3.4:0,0:0,0:46,93:103,54:33,9:NM_005742.2(PDIA6) c.700-251C>T,-:0.42,-:NOT_FOUND,- 2 10930267 rs1734418 G A 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5407,A/0.4593;PC=0.010;Gene=PDIA6/NM_001282707.1/0;CC=c.691-252C>T;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.700-252C>T;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.856-252C>T;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.715-252C>T;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.844-252C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:8:0:0:0:3,5:88,172:7.93,0.00:0.00,0.00:7.93,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:96.0,3.4:0,0:0,0:47,94:102,53:33,9:NM_005742.2(PDIA6) c.700-252C>T,-:0.42,-:NOT_FOUND,- 2 10930903 rs4807 T C 142 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.7187,C/0.2813;PC=1.000;Gene=PDIA6/NM_001282707.1/0;CC=c.632A>G;ProtCh=p.K211R;VC=Missense;Gene=PDIA6/NM_005742.3/0;CC=c.641A>G;ProtCh=p.K214R;VC=Missense;Gene=PDIA6/NM_001282704.1/1;CC=c.797A>G;ProtCh=p.K266R;VC=Missense;Gene=PDIA6/NM_001282706.1/0;CC=c.656A>G;ProtCh=p.K219R;VC=Missense;Gene=PDIA6/NM_001282705.1/0;CC=c.785A>G;ProtCh=p.K262R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:66:0:0:43,41:1468,1318:142.04,0.00:67.02,0.00:75.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.2,7.4:0,0:0,0:66,72:80,77:22,27:NM_005742.2(PDIA6) c.641A>G (p.Lys214Arg),-:0.27,-:0.230663,- 2 10930960 . C . . NT END=10931920;NT GT ./. 2 10931001 rs1614107 A G 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.5397,G/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.576-42T>C;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.585-42T>C;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.741-42T>C;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.600-42T>C;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.729-42T>C;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:16:0:0:25,17:826,528:0.00,48.60:0.00,7.53:0.00,41.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,77.6:0,0:0,0:118,113:23,38:22,24:-,NM_005742.2(PDIA6) c.585-42T>C:-,0.45:-,0.485084 2 10931046 rs1734419 G A 25 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.5397,A/0.4603;PC=0.090;Gene=PDIA6/NM_001282707.1/0;CC=c.576-87C>T;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.585-87C>T;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.741-87C>T;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.600-87C>T;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.729-87C>T;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:3:0:0:11,10:258,326:24.65,0.00:0.73,0.00:23.91,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:76.9,16.0:0,0:0,0:65,86:85,64:44,39:NM_005742.2(PDIA6) c.585-87C>T,-:0.44,-:NOT_FOUND,- 2 10931063 rs1734420 T C 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5397,C/0.4603;PC=0.117;Gene=PDIA6/NM_001282707.1/0;CC=c.576-104A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.585-104A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.741-104A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.600-104A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.729-104A>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:1:0:0:9,10:277,291:26.29,0.00:1.44,0.00:24.85,0.00:1.00,0.00:0.65,0.00:1.00,0.00:60,60:77.1,17.3:0,0:0,0:74,54:76,96:35,43:NM_005742.2(PDIA6) c.585-104A>G,-:0.44,-:NOT_FOUND,- 2 10932052 . C . . NT END=10933221;NT GT ./. 2 10932082 rs1734421 T C 83 nt VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.5397,C/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.445-31A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.454-31A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.610-31A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.469-31A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.598-31A>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:33:0:0:28,38:892,1174:83.01,0.00:28.80,0.00:54.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,11.2:0,0:0,0:89,86:56,55:33,24:NM_005742.2(PDIA6) c.454-31A>G,-:0.45,-:0.485007,- 2 10932207 rs1734422 C A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.5397,A/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.445-156G>T;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.454-156G>T;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.610-156G>T;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.469-156G>T;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.598-156G>T;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:0:0:0:9,13:283,397:26.13,0.00:0.00,0.00:26.13,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:47.3,23.8:0,0:0,0:105,96:45,54:25,25:NM_005742.2(PDIA6) c.454-156G>T,-:0.45,-:NOT_FOUND,- 2 10933249 rs4799 C T 147 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.6138,T/0.3862;Gene=PDIA6/NM_001282707.1/0;CC=c.417G>A;ProtCh=p.R139=;VC=Silent;Gene=PDIA6/NM_005742.3/0;CC=c.426G>A;ProtCh=p.R142=;VC=Silent;Gene=PDIA6/NM_001282704.1/1;CC=c.582G>A;ProtCh=p.R194=;VC=Silent;Gene=PDIA6/NM_001282706.1/0;CC=c.441G>A;ProtCh=p.R147=;VC=Silent;Gene=PDIA6/NM_001282705.1/0;CC=c.570G>A;ProtCh=p.R190=;VC=Silent;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:86:72:0:0:38,48:1273,1502:0.00,147.38:0.00,84.04:0.00,63.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,39.9:0,0:0,0:65,39:84,98:34,21:-,NM_005742.2(PDIA6) c.426G>A (p.(=)):-,0.4:-,0.407658 2 10933329 . C . . NT END=10937206;NT GT ./. 2 10933346 rs143770934 T TAGGC 88 nt VT=INS;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.7179,TAGGC/0.2821;NP=57;PC=0.360;Gene=PDIA6/NM_001282707.1/0;CC=c.338-22_338-19dupGCCT;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.347-22_347-19dupGCCT;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.503-22_503-19dupGCCT;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.362-22_362-19dupGCCT;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.491-22_491-19dupGCCT;VC=Intron;DM=PDIA6/Thioredoxin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,TAGGC:72:40:30:0:1,1,40,30:14,9,1265,945:0.06,-0.14,0.00,88.04:-0.09,0.02,0.00,28.17:0.14,-0.16,0.00,59.87:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:77.0,19.0,16.6,32.4:0,0,0,0:0,0,0,0:1,123,109,99:150,27,33,48:0,0,30,26:-,NM_005742.2(PDIA6) c.347-19_347-18insGCCT:-,0.28:-,0.230751 2 10933421 rs1686517 G A 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.4443,A/0.5557;Gene=PDIA6/NM_001282707.1/0;CC=c.338-93C>T;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.347-93C>T;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.503-93C>T;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.362-93C>T;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.491-93C>T;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:6:0:0:17,22:591,659:55.63,0.00:3.17,0.00:52.46,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:69.1,1.6:0,0:0,0:88,80:63,70:24,47:NM_005742.2(PDIA6) c.347-93C>T,-:0.53,-:NOT_FOUND,- 2 10933493 rs1734427 T C 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7149,C/0.2851;Gene=PDIA6/NM_001282707.1/0;CC=c.338-165A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.347-165A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.503-165A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.362-165A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.491-165A>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:10,12:305,351:28.69,0.00:0.00,0.00:28.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:105.2,3.7:0,0:0,0:102,94:48,56:34,20:NM_005742.2(PDIA6) c.347-165A>G,-:0.28,-:NOT_FOUND,- 2 10933501 rs1686518 A G 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5397,G/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.338-173T>C;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.347-173T>C;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.503-173T>C;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.362-173T>C;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.491-173T>C;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:0:0:0:10,9:317,273:0.00,25.87:0.00,0.00:0.00,25.87:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.4,95.2:0,0:0,0:99,86:51,65:17,41:-,NM_005742.2(PDIA6) c.347-173T>C:-,0.45:-,NOT_FOUND 2 10936979 rs1686445 C T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5397,T/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.337+228G>A;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.346+228G>A;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.502+228G>A;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.361+228G>A;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.490+228G>A;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,T:4:4:0:0:2,2:47,71:0.00,6.85:0.00,6.85:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,118.5:0,0:0,0:76,36:75,114:66,11:-,NM_005742.2(PDIA6) c.346+228G>A:-,0.45:-,NOT_FOUND 2 10937334 . C . . NT END=10937825;NT GT ./. 2 10937409 rs1686444 C T 87 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.5399,T/0.4601;Gene=PDIA6/NM_001282707.1/0;CC=c.211-76G>A;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.220-76G>A;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.376-76G>A;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.235-76G>A;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.364-76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:18:0:0:15,27:474,859:0.00,86.88:0.00,31.12:0.00,55.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.0,40.4:0,0:0,0:71,104:80,40:32,16:-,NM_005742.2(PDIA6) c.220-76G>A:-,0.45:-,NOT_FOUND 2 10937591 rs1734345 A C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5399,C/0.4601;Gene=PDIA6/NM_001282707.1/0;CC=c.210+235T>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.219+235T>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.375+235T>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.234+235T>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.363+235T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:6:0:0:9,10:259,276:0.00,26.63:0.00,7.29:0.00,19.34:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.2,53.1:0,0:0,0:97,62:54,87:48,41:-,NM_005742.2(PDIA6) c.219+235T>G:-,0.45:-,NOT_FOUND 2 10937687 rs1734346 G A 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5399,A/0.4601;Gene=PDIA6/NM_001282707.1/0;CC=c.210+139C>T;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.219+139C>T;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.375+139C>T;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.234+139C>T;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.363+139C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:19:0:0:12,11:381,377:36.91,0.00:26.65,0.00:10.26,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:49.9,8.7:0,0:0,0:63,88:87,62:46,29:NM_005742.2(PDIA6) c.219+139C>T,-:0.45,-:NOT_FOUND,- 2 10937884 . C . . NT END=10942624;NT GT ./. 2 10938043 rs56346617 T G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5397,G/0.4603;PC=0.001;Gene=PDIA6/NM_001282707.1/0;CC=c.153-160A>C;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.162-160A>C;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.318-160A>C;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.177-160A>C;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.306-160A>C;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:G,T:8:0:0:0:5,3:152,100:15.24,0.00:0.00,0.00:15.24,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:57.8,0.0:0,0:0,0:85,127:66,23:17,9:NM_005742.2(PDIA6) c.162-160A>C,-:0.45,-:NOT_FOUND,- 2 10942333 rs1734359 T C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5399,C/0.4601;Gene=PDIA6/NM_001282707.1/0;CC=c.152+292A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.161+292A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.317+292A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.176+292A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.305+292A>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:5:0:0:2,3:69,79:6.40,0.00:6.40,0.00:0.00,0.00:0.46,0.00:0.46,0.00:0.00,0.00:60,60:131.5,3.3:0,0:0,0:40,25:110,126:13,21:NM_005742.2(PDIA6) c.161+292A>G,-:0.45,-:NOT_FOUND,- 2 10942411 rs1734361 G T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5399,T/0.4601;Gene=PDIA6/NM_001282707.1/0;CC=c.152+214C>A;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.161+214C>A;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.317+214C>A;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.176+214C>A;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.305+214C>A;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:G,T:10:10:0:0:6,4:194,128:0.00,11.79:0.00,11.79:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:1.7,86.5:0,0:0,0:75,58:75,93:21,51:-,NM_005742.2(PDIA6) c.161+214C>A:-,0.45:-,NOT_FOUND 2 10942567 rs1686434 G A 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.5395,A/0.4605;Gene=PDIA6/NM_001282707.1/0;CC=c.152+58C>T;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.161+58C>T;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.317+58C>T;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.176+58C>T;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.305+58C>T;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:22:0:0:11,13:370,375:35.10,0.00:28.59,0.00:6.51,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:47.2,24.2:0,0:0,0:43,41:108,110:24,22:NM_005742.2(PDIA6) c.161+58C>T,-:0.45,-:NOT_FOUND,- 2 10942687 rs4758 C T 127 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.5401,T/0.4599;PC=0.729;Gene=PDIA6/NM_001282707.1/0;CC=c.90G>A;ProtCh=p.S30=;VC=Silent;Gene=PDIA6/NM_005742.3/0;CC=c.99G>A;ProtCh=p.S33=;VC=Silent;Gene=PDIA6/NM_001282704.1/1;CC=c.255G>A;ProtCh=p.S85=;VC=Silent;Gene=PDIA6/NM_001282706.1/0;CC=c.114G>A;ProtCh=p.S38=;VC=Silent;Gene=PDIA6/NM_001282705.1/0;CC=c.243G>A;ProtCh=p.S81=;VC=Silent;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:77:61:0:0:1,36,40:34,1155,1303:1.79,0.00,126.61:-0.12,0.00,95.16:1.91,0.00,31.45:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:145.0,7.7,40.2:0,0,0:0,0,0:17,79,48:134,72,102:0,18,26:-,NM_005742.2(PDIA6) c.99G>A (p.(=)):-,0.45:-,0.485084 2 10942767 . C . . NT END=10950368;NT GT ./. 2 10942990 rs1734363 T C 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5399,C/0.4601;Gene=PDIA6/NM_001282707.1/0;CC=c.11-224A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.20-224A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.176-224A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.35-224A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.164-224A>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:C,T:13:0:0:0:5,8:176,246:16.22,0.00:0.00,0.00:16.22,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:46.4,12.5:0,0:0,0:118,119:33,32:24,25:NM_005742.2(PDIA6) c.20-224A>G,-:0.45,-:NOT_FOUND,- 2 10950284 rs1734449 G C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5397,C/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.10+85C>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.19+2520C>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.176-7518C>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.35-7518C>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.164-7518C>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:18:18:0:0:9,8,1:298,256,10:28.99,0.00,0.19:28.99,0.00,0.19:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:40.4,12.4,42.0:0,0,0:0,0,0:83,87,117:67,63,33:32,37,0:NM_005742.2(PDIA6) c.19+2520C>G,-:0.45,-:NOT_FOUND,- 2 10950547 . C . . NT END=10952803;NT GT ./. 2 10950665 rs1489613 T C 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.5397,C/0.4603;Gene=PDIA6/NM_001282707.1/0;CC=c.-168-119A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.19+2139A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.176-7899A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.35-7899A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.164-7899A>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:7:0:0:16,22:453,704:41.69,0.00:3.59,0.00:38.09,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:31.6,5.4:0,0:0,0:96,108:54,42:36,27:NM_005742.2(PDIA6) c.19+2139A>G,-:0.45,-:NOT_FOUND,- 2 10952790 rs6726687 T C 198 nt VT=SNV;PN=C;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=T/0.4393,C/0.5607;Gene=PDIA6/NM_001282707.1/0;CC=c.-169+14A>G;VC=Intron;Gene=PDIA6/NM_005742.3/0;CC=c.19+14A>G;VC=Intron;Gene=PDIA6/NM_001282704.1/1;CC=c.175+6610A>G;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.34+6610A>G;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.163+6610A>G;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:150:130:0:0:66,84:2111,2778:197.91,0.00:122.14,0.00:75.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,11.2:0,0:0,0:56,49:92,95:25,28:NM_005742.2(PDIA6) c.19+14A>G,-:0.53,-:0.600699,- 2 10952961 . g . . NT END=10959399;NT GT ./. 2 10953001 rs6736810 G T 128 nt VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.5453,T/0.4547;Gene=PDIA6/NM_001282704.1/1;CC=c.175+6399C>A;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.34+6399C>A;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.163+6399C>A;VC=Intron;DM=PDIA6/Thioredoxin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:117:51:0:0:75,42:2350,1408:0.00,127.66:0.00,33.24:0.00,94.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,37.6:0,0:0,0:99,85:47,55:35,21:-,NM_005742.2(PDIA6) c.-138-u41C>A:-,0.44:-,NOT_FOUND 2 10953062 rs17552858 GT G 78 rn VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=GT/0.5453,G/0.4547;NP=403;PC=0.042;Gene=PDIA6/NM_001282704.1/1;CC=c.175+6337delA;VC=Intron;Gene=PDIA6/NM_001282706.1/0;CC=c.34+6337delA;VC=Intron;Gene=PDIA6/NM_001282705.1/0;CC=c.163+6337delA;VC=Intron;DM=PDIA6/Thioredoxin;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:68:25:0:27:41,27:1306,849:0.00,77.95:0.00,8.43:0.00,69.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.4,34.3:0,0:0,0:110,105:31,44:15,25:-,NM_005742.2(PDIA6) c.-138-u103delA:-,0.44:-,NOT_FOUND 2 10959481 . C . . NT END=10972488;NT GT ./. 2 10972383 rs4668698 A G 63 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.07348,G/0.9265;PC=0.001;Gene=PDIA6/NM_001282704.1/1;CC=c.-110T>C;VC=5UTR;Gene=PDIA6/NM_001282706.1/0;CC=c.-103T>C;VC=5UTR;Gene=PDIA6/NM_001282705.1/0;CC=c.82+5267T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:539:62.87:62.87:0.00:1.00:1.00:0.00:60:31.2:0:0:53:96:40:chr2 g.10972382A>G (intergenic),chr2 g.10972382A>G (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 2 10972572 . G . . NT END=10977821;NT GT ./. 2 10972626 rs10803729 A T 232 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.02716,T/0.9728;Gene=PDIA6/NM_001282705.1/0;CC=c.82+5024T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:T:62:23:0:0:62:2029:232.42:53.73:178.69:1.00:1.00:1.00:60:38.3:0:0:98:50:32:chr2 g.10972625A>T (intergenic),chr2 g.10972625A>T (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 2 10978020 . T . . NT END=11052552;NT GT ./. 2 10978049 rs10579312 TGCGC T 140 nt VT=DEL;SST=Single;DP=185;DB;DBA=NA;PAF=NA;NP=2;Gene=PDIA6/NM_001282705.1/0;CC=c.-322_-319delGCGC;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,TGCGC,T:184:115:0:56:3,130,51:84,4272,1651:3.58,0.00,139.89:0.83,0.00,55.86:2.75,0.00,84.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:41.0,9.3,15.6:0,0,1:0,0,0:144,85,92:7,57,53:2,27,25:-,chr2 g.10978050_10978053delGCGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 10978056 rs35271022 G A 149 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=173;DB;DBA=NA;PAF=G/0.5014,A/0.4986;NP=54;PC=0.004;Gene=PDIA6/NM_001282705.1/0;CC=c.-325C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:173:103:0:0:56,117:1691,3719:148.54,0.00:53.89,0.00:94.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:13.7,10.0:56,0:0,0:90,84:57,58:26,24:chr2 g.10978055G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 10978162 rs1734367 A G 69 nt VT=SNV;PN=T;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.5022,G/0.4978 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:0:0:0:43,23:1313,770:0.00,69.45:0.00,0.00:0.00,69.45:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.3,69.8:0,0:0,0:114,91:37,58:27,33:-,chr2 g.10978161A>G (intergenic):-,0.51:-,NOT_FOUND 2 10978185 rs1565324 C G 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.7971,G/0.2029 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:49:0:0:0:32,17:961,582:0.00,52.59:0.00,0.00:0.00,52.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.6,81.5:0,0:0,0:91,95:59,56:36,19:-,chr2 g.10978184C>G (intergenic):-,0.2:-,NOT_FOUND 2 10978248 rs1565323 T C 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5022,C/0.4978 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:0:0:0:9,18:248,585:21.62,0.00:0.00,0.00:21.62,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:78.9,10.2:0,0:0,0:110,117:38,33:30,30:chr2 g.10978247T>C (intergenic),-:0.51,-:NOT_FOUND,- 2 11053020 rs3732104 A G 563 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=A/0.107,G/0.893;PC=0.892;Gene=KCNF1/NM_002236.4/1;CC=c.468A>G;ProtCh=p.A156=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:163:125:0:0:1,162:13,4876:0.00,562.57:0.00,310.96:0.00,251.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.0,37.6:0,0:0,0:78,65:73,83:0,29:NM_002236.4(KCNF1) c.468A>G (p.(=)),NM_002236.4(KCNF1) c.468A>G (p.(=)):0.9,0.9:0.875347,0.875347 2 11053740 rs3732105 C T 179 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.517,T/0.483;PC=0.169;Gene=KCNF1/NM_002236.4/1;CC=c.1188C>T;ProtCh=p.I396=;VC=Silent;DM=KCNF1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:121:68:0:0:62,1,58:1939,10,1875:0.00,-0.13,179.11:0.00,-0.01,79.84:0.00,-0.12,99.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.1,85.0,39.8:0,0,0:0,0,0:85,52,77:63,99,66:42,0,34:-,NM_002236.4(KCNF1) c.1188C>T (p.(=)):-,0.51:-,0.550438 2 11053923 rs115526526 G A 212 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=G/0.984,A/0.01597;Gene=KCNF1/NM_002236.4/1;CC=c.1371G>A;ProtCh=p.A457=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:128:92:0:0:66,1,61:2191,6,1909:212.37,-0.19,0.00:110.90,-0.12,0.00:101.47,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.2,94.0,10.0:0,0,0:0,0,0:77,125,65:71,26,85:42,0,25:NM_002236.4(KCNF1) c.1371G>A (p.(=)),-:0.02,-:0.031404,- 2 11054038 . C . . NT END=11273460;NT GT ./. 2 11090816 rs11895495 A G 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01238,G/0.9876;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:165:18.88:11.13:7.75:1.00:1.00:1.00:60:47.0:0:0:39:110:2:chr2 g.11090815A>G (intergenic),chr2 g.11090815A>G (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 11273407 . GTC G 60 idl,rn VT=DEL;SST=Single;DP=116;NP=176;PC=0.052;Gene=C2orf50/NM_182500.2/1;CC=c.-36_-35delCT;VC=5UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTC,I,G:111:105:1:30:85,1,25:2685,34,890:0.00,1.50,59.87:0.00,0.66,51.93:0.00,0.84,7.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.6,0.0,18.9:1,0,5:0,0,0:46,64,40:105,87,108:29,0,20:-,NM_182500.2(C2orf50) c.-52CT[8]:-,NOT_FOUND:-,NOT_FOUND 2 11273718 . G . . NT END=11280635;NT GT ./. 2 11273813 rs6751137 T C 221 nt VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.05072,C/0.9493;Gene=C2orf50/NM_182500.2/1;CC=c.257+96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:C:64:23:0:0:64:1908:221.18:51.75:169.42:1.00:1.00:1.00:60:39.1:0:0:116:33:24:NM_182500.2(C2orf50) c.257+96T>C,NM_182500.2(C2orf50) c.257+96T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 11280676 . G . . NT END=11284045;NT GT ./. 2 11284238 . G . . NT END=11295672;NT GT ./. 2 11295411 . G GGGGGC 12 nt VT=INS;SST=Single;DP=8;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,GGGGGC:8:8:4:0:4,4:105,128:0.00,12.31:0.00,12.31:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:39.8,43.5:0,0:0,0:101,48:46,98:39,34:-,NM_152391.3(PQLC3) c.-133-u129_-133-u128insGGGGC:-,NOT_FOUND:-,NOT_FOUND 2 11295464 rs550983371 A C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5561,G/0.4439 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,C,G:11:11:0:1:4,6,1:123,160,9:0.00,15.87,0.28:0.00,15.87,0.28:0.00,0.00,0.00:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.00,0.00:60,60,60:50.8,88.5,42.0:0,0,0:0,0,0:41,61,58:108,85,52:8,11,0:-,NM_152391.3(PQLC3) c.-133-u76A>C:-,NOT_FOUND:-,NOT_FOUND 2 11295816 . G . . NT END=11300591;NT GT ./. 2 11295867 rs7598570 G C 210 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.1853,C/0.8147;Gene=PQLC3/NM_001282710.1/0;CC=c.143+52G>C;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.143+52G>C;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.143+52G>C;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.143+52G>C;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding;DM=PQLC3/PQ-loop GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:C:63:19:0:0:63:1807:210.24:44.77:165.47:1.00:1.00:1.00:60:36.9:0:0:104:45:29:NM_152391.3(PQLC3) c.143+52G>C,NM_152391.3(PQLC3) c.143+52G>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 11296046 rs908274 T C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1565,C/0.8435;PC=0.001;Gene=PQLC3/NM_001282710.1/0;CC=c.143+231T>C;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.143+231T>C;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.143+231T>C;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.143+231T>C;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding;DM=PQLC3/PQ-loop GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:209:24.21:0.00:24.21:1.00:0.00:1.00:60:65.3:0:0:97:54:21:NM_152391.3(PQLC3) c.143+231T>C,NM_152391.3(PQLC3) c.143+231T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 11300675 . G . . NT END=11300750;NT GT ./. 2 11300732 rs2271622 C T 152 nt VT=SNV;PN=T;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.6178,T/0.3822;Gene=PQLC3/NM_001282710.1/0;CC=c.227-19C>T;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.227-19C>T;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.227-19C>T;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.227-19C>T;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:66:0:0:57,49:1733,1607:0.00,152.38:0.00,84.97:0.00,67.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,40.4:0,0:0,0:83,83:64,65:28,38:-,NM_152391.3(PQLC3) c.227-19C>T:-,0.39:-,0.391665 2 11300869 rs6432182 T C 277 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.06689,C/0.9331;Gene=PQLC3/NM_001282710.1/0;CC=c.296+49T>C;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.296+49T>C;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*36T>C;VC=3UTR;Gene=PQLC3/NM_152391.4/1;CC=c.296+49T>C;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:84:40:0:0:83,1:2401,13:276.95,0.00:109.03,0.00:167.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.4,163.0:0,0:0,0:77,48:65,102:26,0:NM_152391.3(PQLC3) c.296+49T>C,NM_152391.3(PQLC3) c.296+49T>C:0.93,0.93:0.910734,0.910734 2 11300875 . G . . NT END=11304329;NT GT ./. 2 11300927 rs59329825 TAAA T 58 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=7;PC=0.006;Gene=PQLC3/NM_001282710.1/0;CC=c.296+125_296+127delAAA;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.296+125_296+127delAAA;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*41+71_*41+73delAAA;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.296+125_296+127delAAA;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAA,T:37:24:0:41:16,21:493,1088:0.00,58.19:0.00,13.72:0.00,44.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.6,86.0:0,17:0,0:137,106:13,44:7,17:-,NM_152391.3(PQLC3) c.296+108_296+110delAAA:-,NOT_FOUND:-,NOT_FOUND 2 11304172 rs33985535 C T 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5088,T/0.4912;Gene=PQLC3/NM_001282710.1/0;CC=c.297-158C>T;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.297-158C>T;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*41+3298C>T;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.297-158C>T;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:13:13:0:0:6,7:153,230:0.00,22.46:0.00,22.46:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:22.2,39.0:0,0:0,0:75,45:75,105:36,11:-,NM_152391.3(PQLC3) c.297-158C>T:-,0.49:-,NOT_FOUND 2 11304388 . G . . NT END=11312050;NT GT ./. 2 11304471 rs57784960 A ATATCT 9 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5647,ATATT/0.4353;DB;DBA=NA;PAF=A/0.6068,T/0.3932;NP=12;PC=0.006;Gene=PQLC3/NM_001282710.1/0;CC=c.354+85_354+86insATCTT;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.354+85_354+86insATCTT;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*41+3598_*41+3599insATCTT;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.354+85_354+86insATCTT;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,ATATCT:4:3:5:0:1,3:34,142:0.00,9.03:0.00,2.72:0.00,6.30:0.00,0.73:0.00,0.89:0.00,0.73:60,70:0.0,65.7:0,2:0,0:135,79:2,71:0,11:-,NM_152391.3(PQLC3) c.354+84_354+85insTATCT:-,NOT_FOUND:-,NOT_FOUND 2 11304528 rs35332442 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4892,T/0.5108;PC=0.067;Gene=PQLC3/NM_001282710.1/0;CC=c.354+141C>T;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.354+141C>T;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*41+3654C>T;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.354+141C>T;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:5:0:0:0:2,3:62,75:0.00,7.40:0.00,0.00:0.00,7.40:0.00,0.78:0.00,0.00:0.00,0.78:60,70:22.0,44.3:0,0:0,0:143,66:6,85:1,17:-,NM_152391.3(PQLC3) c.354+141C>T:-,0.52:-,NOT_FOUND 2 11312172 . G . . NT END=11315093;NT GT ./. 2 11312181 rs12987956 G A 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.6653,A/0.3347;Gene=PQLC3/NM_001282710.1/0;CC=c.475+10G>A;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.355-2913G>A;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*42-5682G>A;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.475+10G>A;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:40:0:0:25,42:835,1280:76.20,0.00:32.15,0.00:44.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.6,23.7:0,0:0,0:85,94:64,54:14,29:NM_152391.3(PQLC3) c.475+10G>A,-:0.35,-:0.367446,- 2 11312224 rs3732103 C T 205 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.5302,T/0.4698;Gene=PQLC3/NM_001282710.1/0;CC=c.475+53C>T;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.355-2870C>T;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*42-5639C>T;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.475+53C>T;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:18:0:0:54:1797:205.42:38.97:166.45:1.00:1.00:1.00:60:48.6:0:0:105:45:25:NM_152391.3(PQLC3) c.475+53C>T,NM_152391.3(PQLC3) c.475+53C>T:0.48,0.48:NOT_FOUND,NOT_FOUND 2 11312382 rs397801267 G GA 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;PC=0.330;Gene=PQLC3/NM_001282710.1/0;CC=c.475+221dupA;VC=Intron;Gene=PQLC3/NM_001282711.1/0;CC=c.355-2702dupA;VC=Intron;Gene=PQLC3/NM_001282712.1/0;CC=c.*42-5471dupA;VC=Intron;Gene=PQLC3/NM_152391.4/1;CC=c.475+221dupA;VC=Intron;Gene=PQLC3/NR_104231.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,GA:8:0:3:0:5,3:132,84:0.00,7.54:0.00,0.00:0.00,7.54:0.00,0.67:0.00,0.00:0.00,0.67:60,60:62.6,47.7:0,0:0,0:131,108:17,42:8,8:-,NM_152391.3(PQLC3) c.475+211_475+212insA:-,0.37:-,NOT_FOUND 2 11315136 . G . . NT END=11317862;NT GT ./. 2 11317955 . T . . NT END=11323562;NT GT ./. 2 11323567 . C . . NT END=11324791;NT GT ./. 2 11324575 rs1515224 C T 59 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1442,T/0.8558;PC=0.005;Gene=ROCK2/NM_004850.3/1;CC=c.4164-1009G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:16:0:0:16:512:58.82:57.24:1.59:1.00:1.00:1.00:60:48.3:0:0:34:115:20:NM_004850.3(ROCK2) c.4164-1009G>A,NM_004850.3(ROCK2) c.4164-1009G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 2 11324896 . C . . NT END=11332273;NT GT ./. 2 11332238 . C CT 10 rn VT=INS;SST=Single;DP=35;NP=3;Gene=ROCK2/NM_004850.3/1;CC=c.4163+35dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,CT,D:35:33:4:2:29,4,2:924,129,59:0.00,9.52,3.63:0.00,6.86,2.60:0.00,2.65,1.03:0.00,0.61,0.00:0.00,0.94,0.00:0.00,0.57,0.00:60,60,60:11.6,31.0,12.5:0,0,0:0,0,0:23,26,92:127,124,58:17,7,30:-,NM_004850.3(ROCK2) c.4163+35_4163+36insA:-,NOT_FOUND:-,NOT_FOUND 2 11332488 . C . . NT END=11332576;NT GT ./. 2 11332839 . C . . NT END=11333904;NT GT ./. 2 11333984 . C . . NT END=11334381;NT GT ./. 2 11334471 . C . . NT END=11335080;NT GT ./. 2 11334908 rs72368049 C CA 13 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5885,CA/0.4115;DB;DBA=NA;PAF=C/0.5885,CA/0.4115;NP=512;Gene=ROCK2/NM_004850.3/1;CC=c.3519+172dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,CA:7:7:4:0:3,4:102,131:0.00,12.93:0.00,12.93:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:0.0,0.0:0,0:0,0:81,73:70,76:2,55:-,NM_004850.3(ROCK2) c.3519+172_3519+173insT:-,NOT_FOUND:-,NOT_FOUND 2 11335152 . C . . NT END=11337305;NT GT ./. 2 11337475 . C . . NT END=11337651;NT GT ./. 2 11337832 . C . . NT END=11338616;NT GT ./. 2 11338712 . C . . NT END=11338806;NT GT ./. 2 11338901 . C . . NT END=11341082;NT GT ./. 2 11339009 rs397725883 C CT 28 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4894,CT/0.5106,CTT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4894,CT/0.5106;NP=1;NP=1;NP=5;PC=0.001;Gene=ROCK2/NM_004850.3/1;CC=c.2911-110_2911-109insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT,D:18:0:11:1:7,1,9,1:223,33,349,34:0.00,2.32,28.05,2.42:0.00,0.00,0.00,0.00:0.00,2.32,28.05,2.42:0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:15.0,85.0,19.1,0.0:0,0,2,0:0,0,0,0:141,117,73,84:10,21,78,66:6,0,29,0:-,NM_004850.3(ROCK2) c.2911-110_2911-109insA:-,NOT_FOUND:-,NOT_FOUND 2 11341270 . C . . NT END=11341435;NT GT ./. 2 11341540 . C . . NT END=11342177;NT GT ./. 2 11342248 . C . . NT END=11347851;NT GT ./. 2 11348037 . C . . NT END=11348412;NT GT ./. 2 11348256 rs1546597 A G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.6136,G/0.3864;Gene=ROCK2/NM_004850.3/1;CC=c.2364+157T>C;VC=Intron;DM=ROCK2/Rho_Binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:13:0:0:12,9:377,268:0.00,24.84:0.00,20.28:0.00,4.56:0.00,1.00:0.00,1.00:0.00,0.98:60,60:5.2,36.7:0,0:0,0:71,69:78,81:28,34:-,NM_004850.3(ROCK2) c.2364+157T>C:-,0.39:-,NOT_FOUND 2 11348364 rs202064470 C CTAACT 56 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.5883,CCAACT/.,CTAACT/0.4117;DB;DBA=NA;PAF=NA;NP=16;NP=88;Gene=ROCK2/NM_004850.3/1;CC=c.2364+48_2364+49insAGTTA;VC=Intron;DM=ROCK2/Rho_Binding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CTAACT:35:26:18:0:1,15,1,18:10,450,32,569:0.05,0.00,1.95,55.59:0.10,0.00,2.00,39.56:-0.05,0.00,-0.05,16.03:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:149.0,5.6,32.0,11.0:0,0,0,0:0,0,0,0:106,45,3,43:45,106,148,104:0,23,0,11:-,NM_004850.3(ROCK2) c.2364+48_2364+49insAGTTA:-,NOT_FOUND:-,0.429396 2 11348574 . C . . NT END=11351806;NT GT ./. 2 11348609 rs5829297 CAAAT C 63 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=CAAAT/0.6254,C/0.3746;NP=1787;Gene=ROCK2/NM_004850.3/1;CC=c.2204-40_2204-37delATTT;VC=Intron;DM=ROCK2/Rho_Binding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAAAT,C:39:17:0:21:18,21:584,642:0.00,62.53:0.00,23.15:0.00,39.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.2,2.0:0,0:0,0:109,91:32,59:19,25:-,NM_004850.3(ROCK2) c.2204-40_2204-37delATTT:-,0.38:-,0.392232 2 11348727 rs397872899 C CT 11 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.613,CT/0.387;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.613,CT/0.387;NP=17;PC=0.034;Gene=ROCK2/NM_004850.3/1;CC=c.2204-155_2204-154insA;VC=Intron;DM=ROCK2/Rho_Binding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,C,CT,D:17:0:4:1:1,11,4,1:11,320,124,33:0.19,0.00,10.52,2.26:0.00,0.00,0.00,0.00:0.19,0.00,10.52,2.26:0.00,0.00,0.74,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.74,0.00:60,60,60,60:24.0,10.7,0.0,12.0:0,0,0,0:0,0,0,0:59,139,39,128:90,9,111,23:0,9,6,0:-,NM_004850.3(ROCK2) c.2204-155_2204-154insA:-,NOT_FOUND:-,NOT_FOUND 2 11351550 rs12465116 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6254,C/0.3746;PC=0.498;Gene=ROCK2/NM_004850.3/1;CC=c.2203+257A>G;VC=Intron;DM=ROCK2/Rho_Binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:102,34:10.65,0.00:10.65,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:40.7,0.0:0,0:0,0:22,67:127,84:11,0:NM_004850.3(ROCK2) c.2203+257A>G,-:0.39,-:NOT_FOUND,- 2 11351967 . C . . NT END=11354482;NT GT ./. 2 11352034 . A AT 13 idl,rn VT=INS;SST=Single;DP=38;NP=2;NP=3;PC=0.052;Gene=ROCK2/NM_004850.3/1;CC=c.2044-69_2044-68insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,T,AT,D:36:7:6:5:27,1,5,3:841,33,195,129:0.00,1.89,12.53,6.76:0.00,-0.05,-0.27,-0.16:0.00,1.94,12.80,6.92:0.00,0.00,0.77,0.00:0.00,0.00,0.59,0.00:0.00,0.00,0.97,0.00:60,60,60,60:15.0,62.0,0.0,11.3:0,0,1,1:0,0,0,0:122,29,91,105:20,122,59,45:16,0,25,9:-,NM_004850.3(ROCK2) c.2044-69_2044-68insA:-,NOT_FOUND:-,NOT_FOUND 2 11352149 rs4595944 T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5946,C/0.4054;PC=0.001;Gene=ROCK2/NM_004850.3/1;CC=c.2044-183A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,T:10:0:0:0:5,5:156,157:14.98,0.00:0.00,0.00:14.98,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:31.2,12.4:0,0:0,0:128,133:22,18:17,11:NM_004850.3(ROCK2) c.2044-183A>G,-:0.42,-:NOT_FOUND,- 2 11354308 rs10495582 G C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6124,C/0.3876;Gene=ROCK2/NM_004850.3/1;CC=c.2043+175C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,G:7:7:0:0:4,3:135,105:13.33,0.00:13.33,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:90.8,7.3:0,0:0,0:32,47:116,102:12,32:NM_004850.3(ROCK2) c.2043+175C>G,-:0.39,-:NOT_FOUND,- 2 11354590 . C . . NT END=11354965;NT GT ./. 2 11355213 . C . . NT END=11355446;NT GT ./. 2 11355539 . C . . NT END=11355635;NT GT ./. 2 11355772 . C . . NT END=11356283;NT GT ./. 2 11356190 rs726843 G A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.648,A/0.352;Gene=ROCK2/NM_004850.3/1;CC=c.1461+94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:12:0:0:7,8:219,252:20.73,0.00:19.84,0.00:0.89,0.00:0.99,0.00:1.00,0.00:0.86,0.00:60,60:32.9,17.2:0,0:0,0:85,38:65,112:37,30:NM_004850.3(ROCK2) c.1461+94C>T,-:0.37,-:NOT_FOUND,- 2 11356333 . C . . NT END=11357215;NT GT ./. 2 11357100 rs57554471 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.638,A/0.362;PC=0.620;Gene=ROCK2/NM_004850.3/1;CC=c.1412+116C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:10:10:0:0:6,4:205,106:20.45,0.00:20.45,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:34.2,36.5:0,0:0,0:52,25:98,126:45,14:NM_004850.3(ROCK2) c.1412+116C>T,-:0.39,-:NOT_FOUND,- 2 11357296 . C . . NT END=11358580;NT GT ./. 2 11358593 . C . . NT END=11359091;NT GT ./. 2 11359031 rs9808228 G T 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.05871,T/0.9413;Gene=ROCK2/NM_004850.3/1;CC=c.1320+61C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:15:0:0:16:486:56.23:49.72:6.50:1.00:1.00:1.00:60:39.7:0:0:51:100:31:NM_004850.3(ROCK2) c.1320+61C>A,NM_004850.3(ROCK2) c.1320+61C>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 11359120 rs2230774 G T 17 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6002,C/.,T/0.3998;PC=1.000;Gene=ROCK2/NM_004850.3/1;CC=c.1292C>A;ProtCh=p.T431N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:G,T:24:18:0:0:18,6:609,201:0.00,17.10:0.00,8.51:0.00,8.59:0.00,0.92:0.00,0.98:0.00,0.99:60,60:15.9,56.7:0,0:0,0:67,89:75,62:26,16:-,NM_004850.3(ROCK2) c.1292C>A (p.Thr431Asn):-,0.43:-,0.450538 2 11359153 . C . . NT END=11361323;NT GT ./. 2 11361484 . C . . NT END=11362208;NT GT ./. 2 11362301 . C . . NT END=11364447;NT GT ./. 2 11362351 rs2122385 G A 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.9393,A/0.0607;Gene=ROCK2/NM_004850.3/1;CC=c.1008-51C>T;VC=Intron;DM=ROCK2/Rho_Binding;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:12:0:0:10,19:324,631:29.06,0.00:7.48,0.00:21.59,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:64.7,15.9:0,0:0,0:114,113:36,34:17,21:NM_004850.3(ROCK2) c.1008-51C>T,-:0.06,-:0.069052,- 2 11364587 . C . . NT END=11367379;NT GT ./. 2 11364756 rs2056103 T A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5899,A/0.4101;Gene=ROCK2/NM_004850.3/1;CC=c.869-170A>T;VC=Intron;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,T:10:0:0:0:7,3:215,76:22.22,0.00:0.00,0.00:22.22,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:45.3,17.3:0,0:0,0:84,76:66,74:34,3:NM_004850.3(ROCK2) c.869-170A>T,-:0.43,-:NOT_FOUND,- 2 11364847 rs2176052 T G 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6164,G/0.3836;Gene=ROCK2/NM_004850.3/1;CC=c.869-261A>C;VC=Intron;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:G,T:4:0:0:0:2,2:68,67:6.55,0.00:0.00,0.00:6.55,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:66.5,9.5:0,1:0,0:120,106:29,33:21,5:NM_004850.3(ROCK2) c.869-261A>C,-:0.38,-:NOT_FOUND,- 2 11367525 . C . . NT END=11375827;NT GT ./. 2 11376089 . C . . NT END=11389786;NT GT ./. 2 11389925 . C . . NT END=11426664;NT GT ./. 2 11390112 rs3771106 C T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6442,T/0.3558;Gene=ROCK2/NM_004850.3/1;CC=c.325-188G>A;VC=Intron;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:12:0:0:0:5,7:172,197:0.00,19.49:0.00,0.00:0.00,19.49:0.00,0.99:0.00,0.00:0.00,0.99:60,60:20.2,51.9:0,0:0,0:88,122:63,28:37,27:-,NM_004850.3(ROCK2) c.325-188G>A:-,0.37:-,NOT_FOUND 2 11397407 rs58638997 T TG 228 nt VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=141;PC=0.001;Gene=ROCK2/NM_004850.3/1;CC=c.325-7484dupC;VC=Intron;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T,TG:64:48:63:0:1,63:36,2006:0.00,228.39:0.00,117.95:0.00,110.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,6.1:1,0:0,0:109,83:42,62:0,33:NM_004850.3(ROCK2) c.325-7484_325-7483insC,NM_004850.3(ROCK2) c.325-7484_325-7483insC:1,1:NOT_FOUND,NOT_FOUND 2 11397883 rs1868584 T C 254 nt VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.1823,C/0.8177,G/.;PC=0.702;Gene=ROCK2/NM_004850.3/1;CC=c.325-7959A>G;VC=Intron;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:C:65:25:0:0:65:2229:253.85:67.36:186.49:1.00:1.00:1.00:60:37.7:0:0:92:56:25:NM_004850.3(ROCK2) c.325-7959A>G,NM_004850.3(ROCK2) c.325-7959A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 11426766 . C . . NT END=11427780;NT GT ./. 2 11427863 . C . . NT END=11484121;NT GT ./. 2 11448334 rs6713273 C T 105 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.1937,T/0.8063;PC=0.983;Gene=ROCK2/NM_004850.3/1;CC=c.142-20472G>A;VC=Intron;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C,T:31:7:0:0:1,30:11,927:0.00,105.31:0.00,24.76:0.00,80.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:103.0,37.3:0,0:0,0:131,88:-20,62:0,32:NM_004850.3(ROCK2) c.142-20472G>A,NM_004850.3(ROCK2) c.142-20472G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 2 11448958 rs200030544 A T 242 nt VT=SNV;PN=A;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ROCK2/NM_004850.3/1;CC=c.142-21096T>A;VC=Intron;DM=ROCK2/Pkinase;DM=ROCK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:38:0:0:67:2103:242.12:108.13:133.99:1.00:1.00:1.00:52:39.7:0:0:94:57:32:NM_004850.3(ROCK2) c.142-21096T>A,NM_004850.3(ROCK2) c.142-21096T>A:0.66,0.66:NOT_FOUND,NOT_FOUND 2 11484462 rs76229353 A AGCCCG 164 PASS VT=INS;SST=Single;DP=161;DB;DBA=NA;PAF=A/0.6286,AGCCCG/0.3714;DB;DBA=NA;PAF=A/0.6286,AGCCCG/0.3714;NP=122;NP=22;PC=0.019;Gene=ROCK2/NM_004850.3/1;CC=c.-201_-200insCGGGC;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,AGCCCG:161:91:60:1:99,1,1,60:3140,12,10,1813:0.00,-0.16,-0.20,164.07:0.00,-0.10,-0.10,78.37:0.00,-0.05,-0.09,85.70:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:12.3,44.0,138.0,11.8:1,0,0,0:0,0,0,0:86,33,109,48:60,117,10,92:44,0,0,25:-,NM_004850.3(ROCK2) c.-205_-201dupCGGGC:-,NOT_FOUND:-,NOT_FOUND 2 11484605 . c . . NT END=11586602;NT GT ./. 2 11491621 rs6739422 A G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5805,G/0.4195;PC=0.085 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,G:6:6:0:0:1,5:27,170:0.00,18.21:0.00,18.21:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:12.0,34.0:0,0:0,0:23,12:128,138:0,9:-,NM_004850.3(ROCK2) c.-449-u6910T>C:-,0.42:-,NOT_FOUND 2 11586556 rs112341910 G A 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9902,A/0.009784,T/.;NP=156;Gene=E2F6/NM_001278275.1/0;CC=c.*47C>T;VC=3UTR;Gene=E2F6/NM_001278276.1/0;CC=c.*47C>T;VC=3UTR;Gene=E2F6/NM_001278277.1/1;CC=c.*47C>T;VC=3UTR;Gene=E2F6/NM_001278278.1/0;CC=c.*47C>T;VC=3UTR;Gene=E2F6/NM_198256.3/0;CC=c.*47C>T;VC=3UTR;Gene=E2F6/NM_212540.2/0;CC=c.*47C>T;VC=3UTR;Gene=E2F6/NR_103490.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:17:0:0:9,11:278,331:26.12,0.00:15.65,0.00:10.47,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.0,7.5:0,0:0,0:47,30:101,117:31,26:NM_198256.2(E2F6) c.*47C>T,-:0.01,-:0.019594,- 2 11586650 . C . . NT END=11587752;NT GT ./. 2 11587901 . C . . NT END=11590137;NT GT ./. 2 11590253 . G . . NT END=11591776;NT GT ./. 2 11591933 . C . . NT END=11593707;NT GT ./. 2 11593496 rs61016299 A G 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.624,G/0.376;PC=0.007;Gene=E2F6/NM_001278275.1/0;CC=c.284+212T>C;VC=Intron;Gene=E2F6/NM_001278276.1/0;CC=c.155+212T>C;VC=Intron;Gene=E2F6/NM_001278277.1/1;CC=c.155+212T>C;VC=Intron;Gene=E2F6/NM_001278278.1/0;CC=c.155+212T>C;VC=Intron;Gene=E2F6/NM_198256.3/0;CC=c.380+212T>C;VC=Intron;Gene=E2F6/NM_212540.2/0;CC=c.-77+212T>C;VC=Intron;Gene=E2F6/NR_103490.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:53.2:0:0:46:98:22:NM_198256.2(E2F6) c.380+212T>C,NM_198256.2(E2F6) c.380+212T>C:0.38,0.38:NOT_FOUND,NOT_FOUND 2 11593925 . C . . NT END=11595467;NT GT ./. 2 11595601 . C . . NT END=11597304;NT GT ./. 2 11597360 . C . . NT END=11598406;NT GT ./. 2 11598478 . C . . NT END=11605897;NT GT ./. 2 11606006 . G . . NT END=11696740;NT GT ./. 2 11623947 rs397805350 C CT 16 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.006589,CT/0.9934;DB;DBA=NA;PAF=C/0.006589,CT/0.9934;NP=17;PC=0.862;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CT:7:1:5:0:2,5:69,154:0.00,15.97:0.00,-0.54:0.00,16.51:0.00,0.98:0.00,0.81:0.00,1.00:60,60:0.0,37.2:0,0:0,0:140,64:4,87:1,35:-,chr2 g.11623947_11623948insT (intergenic):-,0.99:-,NOT_FOUND 2 11623954 rs1561015 G C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.01997,C/0.98;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:152:17.58:0.00:17.58:1.00:0.00:1.00:60:37.2:0:0:72:79:35:chr2 g.11623953G>C (intergenic),chr2 g.11623953G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 11696898 . G . . NT END=11702588;NT GT ./. 2 11702661 rs10929757 A C 179 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.5843,C/0.4157;PC=0.606;Gene=GREB1/NM_014668.3/1;CC=c.230A>C;ProtCh=p.N77T;VC=Missense;Gene=GREB1/NM_148903.2/0;CC=c.230A>C;ProtCh=p.N77T;VC=Missense;Gene=GREB1/NM_033090.2/0;CC=c.230A>C;ProtCh=p.N77T;VC=Missense;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:136:88:0:0:77,59:2376,1910:0.00,178.76:0.00,86.56:0.00,92.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,41.9:0,0:0,0:77,96:72,55:41,39:-,NM_014668.3(GREB1) c.230A>C (p.Asn77Thr):-,0.42:-,0.417346 2 11702709 . G . . NT END=11706605;NT GT ./. 2 11706672 rs142882892 C T 179 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.9952,T/0.004792;PC=0.617;Gene=GREB1/NM_014668.3/1;CC=c.344C>T;ProtCh=p.A115V;VC=Missense;Gene=GREB1/NM_148903.2/0;CC=c.344C>T;ProtCh=p.A115V;VC=Missense;Gene=GREB1/NM_033090.2/0;CC=c.344C>T;ProtCh=p.A115V;VC=Missense;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:115:77:0:0:58,57:1833,1862:0.00,178.84:0.00,74.22:0.00,104.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,45.6:0,0:0,0:76,71:74,74:31,28:-,NM_014668.3(GREB1) c.344C>T (p.Ala115Val):-,0.0046:-,0.013609 2 11706783 . G . . NT END=11716478;NT GT ./. 2 11716433 . CA C 12 idl,rn VT=DEL;SST=Single;DP=39;NP=28;PC=0.038;Gene=GREB1/NM_014668.3/1;CC=c.455-33delA;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.455-33delA;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.455-33delA;VC=Intron;DM=GREB1/GREB1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CA,I,C:39:35:4:5:30,4,5:992,135,162:0.00,10.04,12.34:0.00,8.81,8.63:0.00,1.23,3.71:0.00,0.00,0.77:0.00,0.00,0.97:0.00,0.00,0.65:60,60,60:10.3,0.0,4.6:0,0,0:0,0,0:57,56,72:88,95,79:36,11,10:-,NM_014668.3(GREB1) c.455-45delA:-,NOT_FOUND:-,0.105802 2 11716662 . G . . NT END=11718422;NT GT ./. 2 11716919 rs4668732 A T 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2336,T/0.7664;Gene=GREB1/NM_014668.3/1;CC=c.637+258A>T;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.637+258A>T;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.637+258A>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:5:0:0:0:1,4:36,136:0.00,14.42:0.00,0.00:0.00,14.42:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,34.0:0,0:0,0:74,99:77,52:0,24:-,NM_014668.3(GREB1) c.637+258A>T:-,0.71:-,NOT_FOUND 2 11718558 . G . . NT END=11720829;NT GT ./. 2 11718591 rs1529868 C T 123 nt VT=SNV;PN=A;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.4702,T/0.5298;Gene=GREB1/NM_014668.3/1;CC=c.772+34C>T;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.772+34C>T;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.772+34C>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:48:0:0:67,43:2196,1345:0.00,122.97:0.00,42.51:0.00,80.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,33.8:0,0:0,0:100,98:45,51:29,23:-,NM_014668.3(GREB1) c.772+34C>T:-,0.52:-,0.5499 2 11720959 . G . . NT END=11725286;NT GT ./. 2 11725049 rs12468019 T C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3852,C/0.6148;Gene=GREB1/NM_014668.3/1;CC=c.902-238T>C;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.902-238T>C;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.902-238T>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:4:4:0:0:3,1:87,30:9.15,0.00:9.15,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:55.7,0.0:0,0:0,0:8,73:142,78:5,0:NM_014668.3(GREB1) c.902-238T>C,-:0.62,-:NOT_FOUND,- 2 11725179 rs78338846 G GA 16 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6218,GA/0.3782;DB;DBA=NA;PAF=G/0.6218,GA/0.3782;DB;DBA=NA;PAF=NA;NP=1;NP=232;PC=0.020;Gene=GREB1/NM_014668.3/1;CC=c.902-97dupA;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.902-97dupA;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.902-97dupA;VC=Intron;DM=GREB1/GREB1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:G,GA,D:17:19:7:3:9,6,2:291,205,92:0.00,16.08,4.57:0.00,16.08,4.57:0.00,0.00,0.00:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.00,0.00:60,60,60:9.2,34.7,5.0:0,1,1:0,0,0:48,64,24:102,87,127:27,25,4:-,NM_014668.3(GREB1) c.902-108_902-107insA:-,NOT_FOUND:-,NOT_FOUND 2 11725241 rs12470971 G A 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6707,A/0.3293;Gene=GREB1/NM_014668.3/1;CC=c.902-46G>A;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.902-46G>A;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.902-46G>A;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:34:0:0:17,19:524,640:49.69,0.00:44.36,0.00:5.33,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:37.1,4.3:0,0:0,0:35,56:110,95:26,28:NM_014668.3(GREB1) c.902-46G>A,-:0.36,-:0.282615,- 2 11725401 . G . . NT END=11725887;NT GT ./. 2 11726032 . G . . NT END=11727507;NT GT ./. 2 11727507 rs13394619 G A 82 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.3808,A/0.6192;Gene=GREB1/NM_014668.3/1;CC=c.1160-1365G>A;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.1160-1G>A;VC=SpliceSiteCDS;Gene=GREB1/NM_033090.2/0;CC=c.1160-1365G>A;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:67:0:0:28,50:909,1544:82.17,0.00:58.75,0.00:23.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,17.6:0,0:0,0:67,48:79,100:25,26:NM_014668.3(GREB1) c.1160-1365G>A,-:0.62,-:0.614734,- 2 11727820 rs377181735 AAC A 88 idl,rn VT=DEL;SST=Single;DP=175;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=GREB1/NM_014668.3/1;CC=c.1160-1005_1160-1004delAC;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*289_*290delAC;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-1005_1160-1004delAC;VC=Intron;DM=GREB1/GREB1;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,C,A:167:146:0:43:131,1,35:4029,12,1346:0.00,-0.24,88.20:0.00,-0.24,66.60:0.00,-0.00,21.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:27.7,46.0,55.8:1,0,8:0,0,0:78,15,51:59,136,100:37,0,22:-,NM_014668.3(GREB1) c.1160-1051_1160-1050delAC:-,NOT_FOUND:-,NOT_FOUND 2 11727858 rs537158955 C T 478 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=204;DB;DBA=NA;PAF=C/0.994,T/0.00599;NP=16;Gene=GREB1/NM_014668.3/1;CC=c.1160-1014C>T;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*280C>T;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-1014C>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I:204:151:3:0:53,148,3:1777,4587,102:0.00,478.45,5.82:0.00,248.84,5.97:0.00,229.61,-0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:70.5,46.6,0.0:0,0,0:0,0,0:36,62,76:97,83,75:19,28,5:-,NM_014668.3(GREB1) c.1160-1014C>T:-,NOT_FOUND:-,NOT_FOUND 2 11727861 rs201790412 A G 45 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=207;DB;DBA=NA;PAF=A/0.9399,G/0.0601;Gene=GREB1/NM_014668.3/1;CC=c.1160-1011A>G;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*283A>G;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-1011A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,C,G:207:151:0:0:186,1,20:5946,12,639:0.00,-0.32,44.97:0.00,-0.21,32.43:0.00,-0.11,12.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:40.2,96.0,146.6:4,0,0:0,0,0:69,99,28:77,44,115:29,0,7:-,NM_014668.3(GREB1) c.1160-1011A>G:-,NOT_FOUND:-,NOT_FOUND 2 11727863 rs62118300 A G 47 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=208;DB;DBA=NA;PAF=NA;NP=7;Gene=GREB1/NM_014668.3/1;CC=c.1160-1009A>G;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*285A>G;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-1009A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:208:150:0:0:187,21:5951,667:0.00,47.21:0.00,33.67:0.00,13.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.3,146.5:16,0:0,0:71,31:75,113:29,7:-,NM_014668.3(GREB1) c.1160-1009A>G:-,NOT_FOUND:-,NOT_FOUND 2 11727865 rs62118301 A G 49 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=207;DB;DBA=NA;PAF=NA;NP=2;NP=23;Gene=GREB1/NM_014668.3/1;CC=c.1160-1007A>G;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*287A>G;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-1007A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:207:148:0:0:186,21:5946,686:0.00,49.14:0.00,34.45:0.00,14.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.6,146.6:16,0:0,0:70,31:74,111:28,8:-,NM_014668.3(GREB1) c.1160-1007A>G:-,NOT_FOUND:-,NOT_FOUND 2 11727867 rs62118309 A G 50 idl VT=SNV;PN=C;NN=C;SST=Single;DP=210;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=35;NP=44;NP=5;Gene=GREB1/NM_014668.3/1;CC=c.1160-1005A>G;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*289A>G;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-1005A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,I:208:145:16:0:170,3,21,14:5320,37,683,476:0.00,-0.34,49.57,26.18:0.00,-0.18,33.81,6.67:0.00,-0.16,15.76,19.51:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:39.8,89.7,149.0,18.4:0,0,0,2:0,0,0,0:75,34,35,47:71,117,109,74:30,9,7,8:-,NM_014668.3(GREB1) c.1160-1005A>G:-,NOT_FOUND:-,NOT_FOUND 2 11727988 rs4669752 G C 186 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=168;DB;DBA=NA;PAF=G/0.3794,C/0.6206;Gene=GREB1/NM_014668.3/1;CC=c.1160-884G>C;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*410G>C;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-884G>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:168:80:0:0:61,107:2050,3516:186.27,0.00:90.06,0.00:96.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.7,12.7:0,0:0,0:88,103:63,47:29,34:NM_014668.3(GREB1) c.1160-884G>C,-:0.63,-:NOT_FOUND,- 2 11728080 rs4669753 G A 135 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.6831,A/0.3169;Gene=GREB1/NM_014668.3/1;CC=c.1160-792G>A;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*502G>A;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-792G>A;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:93:31:0:0:42,1,49,1:1419,6,1500,34:134.69,-0.20,0.00,1.69:32.19,-0.05,0.00,-0.05:102.50,-0.15,0.00,1.74:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:89.3,38.0,9.3,101.0:0,0,0,0:0,0,0,0:82,11,90,140:67,139,47,11:26,0,31,0:NM_014668.3(GREB1) c.1160-792G>A,-:0.34,-:NOT_FOUND,- 2 11728089 rs4669754 C T 130 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.615,T/0.385;Gene=GREB1/NM_014668.3/1;CC=c.1160-783C>T;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*511C>T;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-783C>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:92:28:0:0:49,43:1448,1369:0.00,129.82:0.00,28.82:0.00,101.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,87.6:0,0:0,0:97,86:48,60:33,32:-,NM_014668.3(GREB1) c.1160-783C>T:-,0.41:-,NOT_FOUND 2 11728092 . c . . NT END=11728349;NT GT ./. 2 11728353 . CA C 16 idl,rn VT=DEL;SST=Single;DP=40;PC=0.008;Gene=GREB1/NM_014668.3/1;CC=c.1160-506delA;VC=Intron;Gene=GREB1/NM_148903.2/0;CC=c.*777+11delA;VC=3UTR;Gene=GREB1/NM_033090.2/0;CC=c.1160-506delA;VC=Intron;DM=GREB1/GREB1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,CA,I,C:37:32:4:8:2,26,3,6:35,846,113,247:1.41,0.00,5.09,15.79:-0.39,0.00,2.06,11.96:1.80,0.00,3.03,3.83:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.93:60,60,60,60:94.5,17.3,54.0,50.2:0,0,1,2:0,0,0,0:34,55,56,66:117,94,94,84:34,39,9,30:-,NM_014668.3(GREB1) c.1160-518delA:-,NOT_FOUND:-,NOT_FOUND 2 11728367 . g . . NT END=11728871;NT GT ./. 2 11728381 rs6746291 T C 44 nt VT=SNV;PN=T;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.5491,C/0.4509;PC=0.024;Gene=GREB1/NM_014668.3/1;CC=c.1160-491T>C;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.1160-491T>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:50:34:0:0:16,1,33:494,10,1056:43.59,-0.11,0.00:17.09,-0.15,0.00:26.50,0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:85.4,92.0,8.4:0,0,0:0,0,0:46,45,48:83,84,95:19,0,36:NM_014668.3(GREB1) c.1160-491T>C,-:0.48,-:NOT_FOUND,- 2 11728388 rs59129126 T C 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.6713,C/0.3287;Gene=GREB1/NM_014668.3/1;CC=c.1160-484T>C;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.1160-484T>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:53:36:0:0:17,1,35:489,8,1130:42.73,-0.18,0.00:19.77,-0.15,0.00:22.96,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:84.8,8.0,10.6:0,0,0:0,0,0:55,13,58:75,138,85:20,0,36:NM_014668.3(GREB1) c.1160-484T>C,-:0.36,-:NOT_FOUND,- 2 11729058 . G . . NT END=11732059;NT GT ./. 2 11731846 rs2884374 T C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3896,C/0.6104;Gene=GREB1/NM_014668.3/1;CC=c.1346-1056T>C;VC=Intron;Gene=GREB1/NM_033090.2/0;CC=c.*296T>C;VC=3UTR;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:5:5:0:0:3,2:101,61:10.07,0.00:10.07,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:37.0,0.0:0,0:0,0:26,13:125,138:1,6:NM_014668.3(GREB1) c.1346-1056T>C,-:0.61,-:NOT_FOUND,- 2 11732273 . C . . NT END=11732901;NT GT ./. 2 11733253 . G . . NT END=11735376;NT GT ./. 2 11733488 rs57439315 G T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6192,T/0.3808;Gene=GREB1/NM_014668.3/1;CC=c.1696+236G>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:G,T:9:0:0:0:5,4:164,132:0.00,12.42:0.00,0.00:0.00,12.42:0.00,0.85:0.00,0.00:0.00,0.85:60,60:14.2,40.5:0,0:0,0:114,110:35,40:14,17:-,NM_014668.3(GREB1) c.1696+236G>T:-,0.41:-,NOT_FOUND 2 11735115 rs12473442 T C 16 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4077,C/0.5923;PC=0.006;Gene=GREB1/NM_014668.3/1;CC=c.1697-262T>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:8:8:0:0:5,3:160,102:16.09,0.00:16.09,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:107.8,38.3:4,1:0,0:38,100:113,51:24,16:NM_014668.3(GREB1) c.1697-262T>C,-:0.54,-:NOT_FOUND,- 2 11735119 rs371356681 C CT 9 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=27;PC=0.001;Gene=GREB1/NM_014668.3/1;CC=c.1697-243_1697-242insT;VC=Intron;DM=GREB1/GREB1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,CT,D:8:9:4:1:4,3,1:117,130,33:0.00,9.10,2.62:0.00,9.10,2.62:0.00,0.00,0.00:0.00,0.64,0.00:0.00,0.64,0.00:0.00,0.00,0.00:60,60,60:40.8,159.7,12.0:0,1,0:0,0,0:74,30,104:52,116,47:43,15,0:-,NM_014668.3(GREB1) c.1697-258_1697-257insT:-,NOT_FOUND:-,NOT_FOUND 2 11735135 rs11686429 A T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5136,T/0.4864;PC=0.014;Gene=GREB1/NM_014668.3/1;CC=c.1697-242A>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,T:8:8:0:0:4,4:91,133:0.00,12.82:0.00,12.82:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:28.8,119.8:0,0:0,0:84,48:44,99:43,14:-,NM_014668.3(GREB1) c.1697-242A>T:-,0.47:-,NOT_FOUND 2 11735506 . G . . NT END=11736236;NT GT ./. 2 11736037 rs11679686 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4014,G/0.5986;Gene=GREB1/NM_014668.3/1;CC=c.1826-200A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:14:0:0:7,7:223,248:0.00,23.93:0.00,23.93:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.9,38.7:0,0:0,0:37,77:114,74:17,21:-,NM_014668.3(GREB1) c.1826-200A>G:-,0.6:-,NOT_FOUND 2 11736366 . G . . NT END=11737906;NT GT ./. 2 11738091 rs1435547 T C 200 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.08327,C/0.9167;PC=0.016;Gene=GREB1/NM_014668.3/1;CC=c.2139T>C;ProtCh=p.H713=;VC=Silent;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C:59:18:0:0:59:1719:199.61:40.91:158.70:1.00:1.00:1.00:60:40.5:0:0:108:43:32:NM_014668.3(GREB1) c.2139T>C (p.(=)),NM_014668.3(GREB1) c.2139T>C (p.(=)):0.94,0.94:0.937031,0.937031 2 11738105 . G . . NT END=11738805;NT GT ./. 2 11738378 rs7557063 A G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.08806,G/0.9119;Gene=GREB1/NM_014668.3/1;CC=c.2152+274A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:1:0:0:4:117:13.56:2.04:11.52:1.00:1.00:1.00:60:67.8:0:0:106:44:18:NM_014668.3(GREB1) c.2152+274A>G,NM_014668.3(GREB1) c.2152+274A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 11738765 rs1865575 C T 273 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.08826,T/0.9117;Gene=GREB1/NM_014668.3/1;CC=c.2153-41C>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:64:0:0:74:2380:273.25:187.62:85.63:1.00:1.00:1.00:60:38.4:0:0:41:102:22:NM_014668.3(GREB1) c.2153-41C>T,NM_014668.3(GREB1) c.2153-41C>T:0.94,0.94:0.932263,0.932263 2 11738987 . G . . NT END=11740925;NT GT ./. 2 11741122 . G . . NT END=11742531;NT GT ./. 2 11741193 rs11681838 C A 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.07248,A/0.9275;Gene=GREB1/NM_014668.3/1;CC=c.2529+72C>A;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:4:0:0:36:1123:129.39:7.70:121.69:1.00:1.00:1.00:60:38.1:0:0:111:40:27:NM_014668.3(GREB1) c.2529+72C>A,NM_014668.3(GREB1) c.2529+72C>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 11741390 rs11688915 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.07228,C/0.9277;Gene=GREB1/NM_014668.3/1;CC=c.2529+269T>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:38.8:0:0:76:74:18:NM_014668.3(GREB1) c.2529+269T>C,NM_014668.3(GREB1) c.2529+269T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 11742458 rs72772088 A G 162 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.6873,G/0.3127;Gene=GREB1/NM_014668.3/1;CC=c.2530-74A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G:47:45:0:0:47:1400:162.20:116.73:45.47:1.00:1.00:1.00:60:35.9:0:0:28:119:19:NM_014668.3(GREB1) c.2530-74A>G,NM_014668.3(GREB1) c.2530-74A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 2 11742669 . G . . NT END=11750813;NT GT ./. 2 11751154 . G . . NT END=11752385;NT GT ./. 2 11751261 rs3762577 G T 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8073,T/0.1927;Gene=GREB1/NM_014668.3/1;CC=c.3006+108G>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:32:0:0:0:10,22:326,707:0.00,72.56:0.00,0.00:0.00,72.56:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.3,50.2:0,0:0,0:89,99:61,50:35,20:-,NM_014668.3(GREB1) c.3006+108G>T:-,0.22:-,NOT_FOUND 2 11752319 rs66910997 C CA 14 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4762,CAA/.,CAAA/0.5238;DB;DBA=NA;PAF=C/0.4762,CA/.,CAAA/0.5238;DB;DBA=NA;PAF=C/0.4762,CAAA/0.5238;NP=1;NP=10;NP=2;NP=3;Gene=GREB1/NM_014668.3/1;CC=c.3007-286_3007-285insA;VC=Intron;DM=GREB1/GREB1;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,CA,D:20:28:11:6:13,5,2:429,356,150:0.00,13.90,5.03:0.00,14.06,5.09:0.00,-0.16,-0.06:0.00,0.80,0.00:0.00,0.98,0.00:0.00,0.48,0.00:60,60,60:12.9,37.8,76.5:0,6,3:0,0,0:70,50,83:81,101,68:57,30,15:-,NM_014668.3(GREB1) c.3007-302_3007-301insA:-,NOT_FOUND:-,NOT_FOUND 2 11752503 . G . . NT END=11752620;NT GT ./. 2 11752635 rs2304399 T C 323 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.02356,C/0.9764,G/.;PC=0.033;Gene=GREB1/NM_014668.3/1;CC=c.3021T>C;ProtCh=p.I1007=;VC=Silent;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:89:60:0:0:88,1:2826,10:322.71,0.00:170.04,0.00:152.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,10.0:0,0:0,0:55,128:87,23:29,0:NM_014668.3(GREB1) c.3021T>C (p.(=)),NM_014668.3(GREB1) c.3021T>C (p.(=)):0.98,0.98:0.985555,0.985555 2 11752737 . G . . NT END=11755216;NT GT ./. 2 11752919 rs3816096 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4319,A/0.5681;Gene=GREB1/NM_014668.3/1;CC=c.3122+183G>A;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G:11:0:0:0:5,6:165,181:15.60,0.00:0.00,0.00:15.60,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:35.4,16.5:0,0:0,0:96,91:55,59:5,23:NM_014668.3(GREB1) c.3122+183G>A,-:0.58,-:NOT_FOUND,- 2 11754965 rs529601627 C CT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6803,CT/0.3197;DB;DBA=NA;PAF=C/0.6803,CT/0.3197;DB;DBA=NA;PAF=NA;NP=64;Gene=GREB1/NM_014668.3/1;CC=c.3123-246dupT;VC=Intron;DM=GREB1/GREB1;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,CT:5:5:3:0:2,3:47,99:0.00,9.88:0.00,9.88:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:21.0,4.0:0,0:0,0:7,63:144,88:4,34:-,NM_014668.3(GREB1) c.3123-252_3123-251insT:-,0.37:-,NOT_FOUND 2 11755417 . G . . NT END=11756756;NT GT ./. 2 11755443 rs2252958 T G 340 nt VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.1775,C/.,G/0.8225;Gene=GREB1/NM_014668.3/1;CC=c.3322+27T>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:92:39:0:0:91,1:2982,13:339.56,0.00:86.19,0.00:253.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,130.0:0,0:0,0:99,6:45,145:32,0:NM_014668.3(GREB1) c.3322+27T>G,NM_014668.3(GREB1) c.3322+27T>G:0.82,0.82:0.779653,0.779653 2 11756847 . G . . NT END=11758413;NT GT ./. 2 11757009 rs6735957 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.0637,G/0.9363;Gene=GREB1/NM_014668.3/1;CC=c.3412+163A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:235:26.84:0.00:26.84:1.00:0.00:1.00:60:60.4:0:0:140:11:2:NM_014668.3(GREB1) c.3412+163A>G,NM_014668.3(GREB1) c.3412+163A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 11757076 rs3792038 G C 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4169,C/0.5831;Gene=GREB1/NM_014668.3/1;CC=c.3412+230G>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:118:13.70:3.98:9.73:1.00:1.00:1.00:60:121.2:0:0:91:59:33:NM_014668.3(GREB1) c.3412+230G>C,NM_014668.3(GREB1) c.3412+230G>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 11757086 rs3792037 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4177,A/0.5823;Gene=GREB1/NM_014668.3/1;CC=c.3412+240G>A;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:128:14.71:3.38:11.33:1.00:1.00:1.00:60:121.2:0:0:101:49:33:NM_014668.3(GREB1) c.3412+240G>A,NM_014668.3(GREB1) c.3412+240G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 2 11758254 rs7423714 A G 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=3;PC=0.502;Gene=GREB1/NM_014668.3/1;CC=c.3413-160A>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G:8:8:0:0:2,6:63,192:0.00,20.11:0.00,20.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.0,163.8:0,0:0,0:57,16:82,132:8,11:-,NM_014668.3(GREB1) c.3413-160A>G:-,NOT_FOUND:-,NOT_FOUND 2 11758261 rs7421823 C T 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7248,T/0.2752;NP=5;PC=0.002;Gene=GREB1/NM_014668.3/1;CC=c.3413-153C>T;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,T:9:9:0:0:2,7:63,218:0.00,23.07:0.00,23.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.0,149.9:0,0:0,0:64,19:75,132:8,9:-,NM_014668.3(GREB1) c.3413-153C>T:-,NOT_FOUND:-,NOT_FOUND 2 11758262 rs3838572 C G 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7248,G/0.2752;NP=9;Gene=GREB1/NM_014668.3/1;CC=c.3413-152C>G;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,G:9:9:0:0:2,7:53,239:0.00,25.17:0.00,25.17:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.0,149.9:0,0:0,0:65,20:74,131:8,9:-,NM_014668.3(GREB1) c.3413-152C>G:-,NOT_FOUND:-,NOT_FOUND 2 11759046 . G . . NT END=11761030;NT GT ./. 2 11760985 rs372433827 G A 80 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=GREB1/NM_014668.3/1;CC=c.4045-46G>A;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:41:0:0:25,22:825,684:80.30,0.00:67.75,0.00:12.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,3.9:0,0:0,0:27,40:124,107:16,16:NM_014668.3(GREB1) c.4045-46G>A,-:NOT_FOUND,-:0.000082,- 2 11761134 . G . . NT END=11765279;NT GT ./. 2 11764941 rs188223405 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.997,C/0.002995;NP=3;PC=0.100;Gene=GREB1/NM_014668.3/1;CC=c.4148-339T>C;VC=Intron;DM=GREB1/GREB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:4:3:0:0:2,2:70,63:6.75,0.00:3.07,0.00:3.68,0.00:0.51,0.00:0.89,0.00:0.67,0.00:60,60:51.0,5.0:0,0:0,0:90,116:59,34:45,13:NM_014668.3(GREB1) c.4148-339T>C,-:0.0041,-:NOT_FOUND,- 2 11765439 . G . . NT END=11767087;NT GT ./. 2 11767231 . G . . NT END=11770073;NT GT ./. 2 11770236 . G . . NT END=11772034;NT GT ./. 2 11772240 . G . . NT END=11773014;NT GT ./. 2 11773190 . G . . NT END=11774256;NT GT ./. 2 11774476 . G . . NT END=11775395;NT GT ./. 2 11775532 . G . . NT END=11777841;NT GT ./. 2 11778043 . G . . NT END=11778796;NT GT ./. 2 11778936 . G . . NT END=11780416;NT GT ./. 2 11780581 . G . . NT END=11798604;NT GT ./. 2 11798481 rs6742234 A T 56 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.7939,T/0.2061;PC=0.001;Gene=NTSR2/NM_012344.3/1;CC=c.*124T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:36:36:0:0:19,17:597,587:0.00,56.02:0.00,54.61:0.00,1.41:0.00,1.00:0.00,1.00:0.00,0.92:60,60:10.8,51.8:0,0:0,0:36,33:115,117:25,23:-,NM_012344.3(NTSR2) c.*124T>A:-,0.21:-,NOT_FOUND 2 11798849 . C . . NT END=11800168;NT GT ./. 2 11800260 . C . . NT END=11802092;NT GT ./. 2 11802367 . C . . NT END=11809631;NT GT ./. 2 11802630 rs114316812 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.969,A/0.03095;PC=0.001;Gene=NTSR2/NM_012344.3/1;CC=c.625-264C>T;VC=Intron;DM=NTSR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,G:10:2:0:0:6,4:193,119:19.24,0.00:1.43,0.00:17.81,0.00:0.99,0.00:0.87,0.00:1.00,0.00:60,60:58.5,59.5:0,0:0,0:91,124:59,27:41,8:NM_012344.3(NTSR2) c.625-264C>T,-:0.04,-:NOT_FOUND,- 2 11809513 rs4578832 G A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6058,A/0.3942;Gene=NTSR2/NM_012344.3/1;CC=c.624+119C>T;VC=Intron;DM=NTSR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:25:0:0:9,17:230,577:19.98,0.00:20.25,0.00:-0.28,0.00:0.99,0.00:1.00,0.00:0.64,0.00:60,60:57.6,67.7:0,0:0,0:114,73:37,68:33,21:NM_012344.3(NTSR2) c.624+119C>T,-:0.38,-:NOT_FOUND,- 2 11809517 rs11689220 G A 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9243,A/0.07568;Gene=NTSR2/NM_012344.3/1;CC=c.624+115C>T;VC=Intron;DM=NTSR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,G:24:23:0:0:17,7:529,173:54.70,0.00:48.81,0.00:5.89,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:61.9,61.6:0,0:0,0:77,99:64,51:24,44:NM_012344.3(NTSR2) c.624+115C>T,-:0.09,-:NOT_FOUND,- 2 11809594 . A C 12 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;NP=15;PC=0.001;Gene=NTSR2/NM_012344.3/1;CC=c.624+38T>G;VC=Intron;DM=NTSR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,C,G:42:14:0:1:31,10,1:654,170,12:0.00,11.95,-0.01:0.00,10.29,-0.08:0.00,1.66,0.07:0.00,1.00,0.00:0.00,0.95,0.00:0.00,1.00,0.00:60,60,60:12.4,60.5,23.0:0,0,0:0,0,0:33,78,12:117,47,103:22,50,0:-,NM_012344.3(NTSR2) c.624+38T>G:-,NOT_FOUND:-,NOT_FOUND 2 11809602 . T C 12 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;NP=19;Gene=NTSR2/NM_012344.3/1;CC=c.624+30A>G;VC=Intron;DM=NTSR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G,T:52:23:0:0:6,1,45:173,27,1186:12.22,1.10,0.00:13.82,1.35,0.00:-1.60,-0.25,0.00:0.84,0.00,0.00:0.87,0.00,0.00:0.94,0.00,0.00:60,60,60:95.2,79.0,13.9:0,0,0:0,0,0:133,145,19:6,6,126:12,0,15:NM_012344.3(NTSR2) c.624+30A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 11810091 rs114415067 G A 343 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=242;DB;DBA=NA;PAF=G/0.969,A/0.03095;PC=1.000;Gene=NTSR2/NM_012344.3/1;CC=c.165C>T;ProtCh=p.H55=;VC=Silent;DM=NTSR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:242:151:0:0:113,1,128:3611,11,4019:342.58,-0.17,0.00:151.64,-0.12,0.00:190.94,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.2,59.0,36.9:0,0,0:0,0,0:95,31,72:55,120,77:38,0,40:NM_012344.3(NTSR2) c.165C>T (p.(=)),-:0.04,-:NOT_FOUND,- 2 11810095 rs6432225 G A 870 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=238;DB;DBA=NA;PAF=G/0.02935,A/0.9706;PC=0.065;Gene=NTSR2/NM_012344.3/1;CC=c.161C>T;ProtCh=p.A54V;VC=Missense;DM=NTSR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:238:146:0:0:237,1:7580,10:870.33,0.04:431.34,0.00:438.99,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.7,59.0:0,0:0,0:89,62:60,89:39,0:NM_012344.3(NTSR2) c.=,NM_012344.3(NTSR2) c.=:0.98,0.98:0.984953,0.984953 2 11810256 . C . . NT END=11817773;NT GT ./. 2 11817812 rs4669769 G C 142 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.5136,C/0.4864;PC=0.016;Gene=LPIN1/NM_001261428.1/0;CC=c.39G>C;ProtCh=p.E13D;VC=Missense;DM=LPIN1/Lipin_mid;DM=LPIN1/Lipin_N;DM=LPIN1/Lipin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:93:68:0:0:45,48:1487,1651:142.15,0.00:66.67,0.00:75.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,3.8:0,0:0,0:77,86:71,57:29,23:NM_012344.3(NTSR2) c.-74-u7483C>G,-:0.48,-:NOT_FOUND,- 2 11817855 . G . . NT END=11853881;NT GT ./. 2 11853774 rs12465629 T C 60 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6064,C/0.3936;Gene=LPIN1/NM_001261428.1/0;CC=c.82-108T>C;VC=Intron;DM=LPIN1/Lipin_mid;DM=LPIN1/Lipin_N;DM=LPIN1/Lipin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:528:60.43:58.49:1.94:1.00:1.00:1.00:60:41.5:0:0:29:120:22:NM_001261428.1(LPIN1) c.82-108T>C,NM_001261428.1(LPIN1) c.82-108T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 2 11853939 . G . . NT END=11864459;NT GT ./. 2 11853988 rs12465630 A T 87 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.6066,T/0.3934;Gene=LPIN1/NM_001261428.1/0;CC=c.138+50A>T;VC=Intron;DM=LPIN1/Lipin_mid;DM=LPIN1/Lipin_N;DM=LPIN1/Lipin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:11:0:0:24:756:87.01:30.60:56.40:1.00:1.00:1.00:60:41.6:0:0:112:38:16:NM_001261428.1(LPIN1) c.138+50A>T,NM_001261428.1(LPIN1) c.138+50A>T:0.39,0.39:NOT_FOUND,NOT_FOUND 2 11854099 rs4668739 T C 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6062,C/0.3938;Gene=LPIN1/NM_001261428.1/0;CC=c.138+161T>C;VC=Intron;DM=LPIN1/Lipin_mid;DM=LPIN1/Lipin_N;DM=LPIN1/Lipin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:0:0:0:15:466:53.75:0.00:53.75:1.00:0.00:1.00:60:40.8:0:0:95:56:22:NM_001261428.1(LPIN1) c.138+161T>C,NM_001261428.1(LPIN1) c.138+161T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 2 11864769 . G . . NT END=11881474;NT GT ./. 2 11881555 . G . . NT END=11886721;NT GT ./. 2 11886798 . G . . NT END=11905658;NT GT ./. 2 11905860 . G . . NT END=11907888;NT GT ./. 2 11907985 . G . . NT END=11911497;NT GT ./. 2 11911806 . G . . NT END=11913745;NT GT ./. 2 11913727 . CT C 8 rn VT=DEL;SST=Single;DP=40;NP=150;Gene=LPIN1/NM_001261428.1/0;CC=c.744-8delT;VC=Intron;Gene=LPIN1/NM_001261429.1/0;CC=c.615-8delT;VC=Intron;Gene=LPIN1/NM_001261427.1/0;CC=c.615-8delT;VC=Intron;Gene=LPIN1/NM_145693.2/1;CC=c.597-8delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:CT,I,C:40:36:2:4:34,2,4:1162,56,119:0.00,3.21,8.26:0.00,1.88,4.32:0.00,1.33,3.94:0.00,0.00,0.59:0.00,0.00,0.93:0.00,0.00,0.72:60,60,60:13.9,30.0,0.0:0,0,0:0,0,0:61,82,43:82,68,107:31,11,24:-,NM_145693.2(LPIN1) c.597-18delT:-,NOT_FOUND:-,NOT_FOUND 2 11913872 . G . . NT END=11916211;NT GT ./. 2 11916320 . G . . NT END=11919644;NT GT ./. 2 11919772 . G . . NT END=11922326;NT GT ./. 2 11919993 rs147387879 C T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9932,T/0.006789;NP=5;PC=0.001;Gene=LPIN1/NM_001261428.1/0;CC=c.1104+222C>T;VC=Intron;Gene=LPIN1/NM_001261429.1/0;CC=c.975+222C>T;VC=Intron;Gene=LPIN1/NM_001261427.1/0;CC=c.867+222C>T;VC=Intron;Gene=LPIN1/NM_145693.2/1;CC=c.849+222C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:11:0:0:0:7,4:204,131:0.00,11.88:0.00,0.00:0.00,11.88:0.00,0.82:0.00,0.00:0.00,0.82:60,60:20.0,35.2:0,0:0,0:120,132:31,19:25,3:-,NM_145693.2(LPIN1) c.849+222C>T:-,0.01:-,NOT_FOUND 2 11922634 . G . . NT END=11923954;NT GT ./. 2 11924172 . t . . NT END=11924430;NT GT ./. 2 11924429 . CA C 47 idl,rn VT=DEL;SST=Single;DP=92;NP=1;PC=0.145;Gene=LPIN1/NM_001261428.1/0;CC=c.1505+402delA;VC=Intron;Gene=LPIN1/NM_001261429.1/0;CC=c.*379+19delA;VC=3UTR;Gene=LPIN1/NM_001261427.1/0;CC=c.1268+402delA;VC=Intron;Gene=LPIN1/NM_145693.2/1;CC=c.1250+402delA;VC=Intron;DM=LPIN1/Lipin_mid;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:85:79:13:24:1,54,12,18:29,1620,401,743:1.18,0.00,28.75,47.45:-0.20,0.00,24.15,39.08:1.38,0.00,4.60,8.37:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:40.0,35.2,42.5,35.1:0,0,1,6:0,0,0,0:12,67,41,50:138,72,110,90:0,41,32,19:-,NM_145693.2(LPIN1) c.1250+382delA:-,NOT_FOUND:-,NOT_FOUND 2 11924440 . a . . NT END=11925011;NT GT ./. 2 11925203 . G . . NT END=11927199;NT GT ./. 2 11927238 rs33997857 G A 74 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.9928,A/0.007188;PC=1.000;Gene=LPIN1/NM_001261428.1/0;CC=c.1735G>A;ProtCh=p.V579M;VC=Missense;Gene=LPIN1/NM_001261427.1/0;CC=c.1498G>A;ProtCh=p.V500M;VC=Missense;Gene=LPIN1/NM_145693.2/1;CC=c.1480G>A;ProtCh=p.V494M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:38:0:0:25,30:787,940:74.16,0.00:38.54,0.00:35.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,13.3:0,0:0,0:83,61:68,84:23,35:NM_145693.2(LPIN1) c.1480G>A (p.Val494Met),-:0.01,-:0.0163,- 2 11927294 . G . . NT END=11928512;NT GT ./. 2 11928583 . G . . NT END=11932039;NT GT ./. 2 11932133 . G . . NT END=11935533;NT GT ./. 2 11935322 rs78580932 G C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9842,C/0.01577;Gene=LPIN1/NM_001261428.1/0;CC=c.1954-212G>C;VC=Intron;Gene=LPIN1/NM_001261427.1/0;CC=c.1717-212G>C;VC=Intron;Gene=LPIN1/NM_145693.2/1;CC=c.1699-212G>C;VC=Intron;DM=LPIN1/LNS2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,G:8:8:0:0:6,2:183,69:19.19,0.00:19.19,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.2,5.5:0,0:0,0:73,54:77,97:47,19:NM_145693.2(LPIN1) c.1699-212G>C,-:0.02,-:NOT_FOUND,- 2 11935614 . G . . NT END=11943032;NT GT ./. 2 11943160 . G . . NT END=11944548;NT GT ./. 2 11944698 . G . . NT END=11945195;NT GT ./. 2 11945283 . G . . NT END=11955213;NT GT ./. 2 11955367 . G . . NT END=11959609;NT GT ./. 2 11955537 rs147863283 C T 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=LPIN1/NM_001261428.1/0;CC=c.2549+171C>T;VC=Intron;Gene=LPIN1/NM_001261427.1/0;CC=c.2312+171C>T;VC=Intron;Gene=LPIN1/NM_145693.2/1;CC=c.2294+171C>T;VC=Intron;DM=LPIN1/LNS2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:19:0:0:0:1,8,10:9,265,319:0.12,0.00,31.29:0.00,0.00,0.00:0.12,0.00,31.29:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:98.0,22.0,36.2:0,0,0:0,0,0:124,89,118:27,62,32:0,23,23:-,NM_145693.2(LPIN1) c.2294+171C>T:-,0.0009:-,NOT_FOUND 2 11959725 . G . . NT END=11960536;NT GT ./. 2 11960641 . G . . NT END=11964757;NT GT ./. 2 11964645 rs78481689 A C 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.9986,C/0.001398;NP=6;PC=0.001;Gene=LPIN1/NM_001261428.1/0;CC=c.2769-113A>C;VC=Intron;Gene=LPIN1/NM_001261427.1/0;CC=c.2532-113A>C;VC=Intron;Gene=LPIN1/NM_145693.2/1;CC=c.2514-113A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:22:0:0:11,11:361,329:0.00,31.48:0.00,31.63:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.67:60,60:3.7,58.7:0,0:0,0:61,45:88,106:20,36:-,NM_145693.2(LPIN1) c.2514-113A>C:-,0.0018:-,NOT_FOUND 2 11964918 . A . . NT END=12858433;NT GT ./. 2 11982402 . TTG T 7 idl,rn VT=DEL;SST=Single;DP=4;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TTG,T:3:3:0:6:1,2:33,74:0.00,6.55:0.00,4.91:0.00,1.64:0.00,0.51:0.00,0.89:0.00,0.89:24,60:0.0,68.0:0,1:0,0:40,74:45,77:0,13:-,NR_036226.1(MIR4262) n.-5292_-5291delCA:-,NOT_FOUND:-,NOT_FOUND 2 12163800 rs4669796 C G 141 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.3852,G/0.6148;PC=0.986;Gene=MIR3681HG/NR_110198.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110197.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G:38:26:0:0:38:1229:141.02:78.41:62.61:1.00:1.00:1.00:60:41.9:0:0:87:63:34:chr2 g.12163799C>G (intergenic),chr2 g.12163799C>G (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 2 12164189 rs4668745 C T 344 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.4329,T/0.5671;PC=0.786;Gene=MIR3681HG/NR_110198.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110197.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:92:59:0:0:1,91:11,3016:0.14,344.36:0.00,178.51:0.14,165.85:0.00,1.00:0.00,1.00:0.00,1.00:43,60:145.0,60.0:0,0:0,0:89,76:29,70:0,28:chr2 g.12164188C>T (intergenic),chr2 g.12164188C>T (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 2 12164246 rs4669797 C T 343 nt VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.5282,T/0.4718;PC=0.872;Gene=MIR3681HG/NR_110198.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110197.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:95:57:0:0:95:2979:343.02:158.00:185.02:1.00:1.00:1.00:60:56.8:0:0:71:75:41:chr2 g.12164245C>T (intergenic),chr2 g.12164245C>T (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 2 12164456 rs13002221 C T 188 nt VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.5266,T/0.4734;PC=0.674;Gene=MIR3681HG/NR_110198.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110197.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:T:51:27:0:0:51:1633:187.55:95.34:92.20:1.00:1.00:1.00:60:45.9:0:0:72:76:38:chr2 g.12164455C>T (intergenic),chr2 g.12164455C>T (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 2 12164535 rs62113770 G A 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.8213,A/0.1787;PC=1.000;Gene=MIR3681HG/NR_110198.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110197.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:32:0:0:20,30:669,923:61.84,0.00:31.86,0.00:29.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.3,33.2:0,0:0,0:68,83:82,66:50,49:chr2 g.12164534G>A (intergenic),-:0.18,-:NOT_FOUND,- 2 12164627 rs3890478 A G 192 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.4205,G/0.5795;PC=0.054;Gene=MIR3681HG/NR_110198.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110197.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:A,G:51:27:0:0:1,50:11,1702:0.00,192.26:0.00,84.31:0.00,107.95:0.00,1.00:0.00,1.00:0.00,1.00:55,60:10.0,47.7:0,0:0,0:21,83:130,65:0,29:chr2 g.12164626A>G (intergenic),chr2 g.12164626A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 12164827 rs12471113 T C 72 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4207,C/0.5793;PC=1.000;Gene=MIR3681HG/NR_110198.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110197.1/0;VC=NonCoding;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:5:0:0:20:622:71.73:13.67:58.06:1.00:1.00:1.00:60:36.6:0:0:102:45:34:chr2 g.12164826T>C (intergenic),chr2 g.12164826T>C (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 2 12281564 rs371848216 G A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5112,A/0.4888;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:A,G:4:3:0:0:3,1:78,36:8.22,0.00:4.98,0.00:3.25,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,60:38.7,0.0:0,0:0,0:57,121:52,4:42,0:chr2 g.12281563G>A (intergenic),-:0.66,-:NOT_FOUND,- 2 12302472 . GACAC G 9 nt VT=DEL;SST=Single;DP=4;PC=0.001;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GACAC,G:4:4:0:3:1,3:34,87:0.00,9.15:0.00,6.25:0.00,2.90:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,7.3:0,0:0,0:25,55:21,96:0,31:-,chr2 g.12302473_12302476delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 12577340 . ATATGTG A 11 nt VT=DEL;SST=Single;DP=4;NP=1;Gene=MIR3681HG/NR_110196.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:3:0:4:3:131:10.96:5.48:5.48:0.85:0.99:0.85:70:9.7:1:0:99:51:19:chr2 g.12577341_12577346delTATGTG (intergenic),chr2 g.12577341_12577346delTATGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 12606205 rs34135195 G A,GCGCA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=19;NP=2;NP=2;NP=2;NP=2;NP=3;NP=3;NP=3;NP=3;NP=45;NP=8;NP=99;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:25:A,C,GCGCA:4:3:2:0:1,1,2:35,9,66:3.38,0.78,6.95:3.38,0.00,5.26:0.00,0.78,1.69:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.79:60,60,60:102.0,124.0,0.0:0,0,0:0,0,0:67,94,66:81,57,82:0,0,20:chr2 g.12606204G>A (intergenic),chr2 g.12606205_12606206insCGCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 12766030 rs12692485 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1923,T/0.8077;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:128:14.71:11.08:3.63:1.00:1.00:1.00:60:70.5:3:0:74:76:15:chr2 g.12766029C>T (intergenic),chr2 g.12766029C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 12858704 . G . . NT END=12863385;NT GT ./. 2 12863679 . G . . NT END=12880451;NT GT ./. 2 12880921 . G . . NT END=14774103;NT GT ./. 2 13076676 rs34159883 GAC G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GAC/0.652,G/0.348;NP=25;PC=0.018;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:GAC,G:4:1:0:3:1,3:14,92:0.00,9.67:0.00,3.75:0.00,5.92:0.00,0.85:0.00,0.83:0.00,0.99:60,60:24.0,18.7:0,0:0,0:13,106:138,43:0,4:-,chr2 g.13076677_13076678delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 13125601 rs58266442 T TTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10;NP=89;PC=0.229;Gene=LOC100506474/NR_038434.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:T,TTG:3:4:3:0:1,2:34,95:0.00,6.85:0.00,1.99:0.00,4.86:0.00,0.51:0.00,0.51:0.00,0.51:60,60:0.0,16.5:0,1:0,0:23,97:91,53:0,12:-,NR_038434.1(LOC100506474) n.611-4358_611-4357insCA:-,NOT_FOUND:-,NOT_FOUND 2 13437884 rs112523022 A ATG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7446,ATG/0.2554,ATGTG/.,ATGTGTG/.;NP=207;NP=4;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,ATG:4:4:2:0:2,2:67,67:0.00,6.45:0.00,4.96:0.00,1.49:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,3.5:0,0:0,0:62,25:85,114:24,11:-,chr2 g.13437884_13437885insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 13623070 rs34874302 C CGT 15 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=20;NP=60;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CGT:4:2:4:0:4:126:14.51:5.52:8.99:1.00:1.00:1.00:60:24.8:0:0:51:90:26:chr2 g.13623070_13623071insGT (intergenic),chr2 g.13623070_13623071insGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 14090397 rs111945044 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.993,G/0.006989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:6:5:0:0:1,5:35,133:0.00,14.39:0.00,5.69:0.00,8.70:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,34.8:0,0:0,0:55,69:96,68:0,5:-,chr2 g.14090396A>G (intergenic):-,0.01:-,NOT_FOUND 2 14339742 rs10183827 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5741,C/0.4259 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:160:18.38:11.18:7.20:1.00:1.00:1.00:60:38.2:0:0:32:99:19:chr2 g.14339741T>C (intergenic),chr2 g.14339741T>C (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 2 14381536 rs78573849 GCACA G 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=34;Gene=LINC00276/NR_103814.2/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G:2:4:0:4:2:133:6.95:3.48:3.48:0.51:0.51:0.79:70:0.0:2:0:41:50:26:chr2 g.14381537_14381540delCACA (intergenic),chr2 g.14381537_14381540delCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 14448426 . GGT G 6 rn VT=DEL;SST=Single;DP=4;PC=0.001;Gene=LINC00276/NR_103814.2/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:GGT,G:4:4:0:2:2,2:43,67:0.00,6.47:0.00,4.88:0.00,1.59:0.00,0.51:0.00,0.51:0.00,0.79:60,60:50.5,18.0:2,0:0,0:50,70:98,50:21,16:-,chr2 g.14448427_14448428delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 14448430 rs5829450 T G 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7969,G/0.2031;NP=5;PC=0.001;Gene=LINC00276/NR_103814.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:G,T:4:4:0:0:2,2:66,45:6.37,0.00:4.78,0.00:1.59,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:18.0,50.5:2,0:0,0:72,54:48,94:16,21:chr2 g.14448429T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 14448455 rs76307775 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8902,G/0.1098;PC=0.018;Gene=LINC00276/NR_103814.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:3:0:0:1,3:34,101:0.00,10.55:0.00,5.03:0.00,5.53:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,45.7:0,0:0,0:113,81:38,49:0,20:-,chr2 g.14448454A>G (intergenic):-,0.11:-,NOT_FOUND 2 14486177 rs58522229 A ATATGTGTGTGTGTGTGTGTG 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=4;NP=8;PC=0.001;Gene=LINC00276/NR_103814.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:ATATGTGTGTGTGTGTGTGTG:2:3:4:0:2:133:7.15:5.36:1.79:0.51:0.89:0.51:60:89.5:2:0:78:72:10:chr2 g.14486177_14486178insTATGTGTGTGTGTGTGTGTG (intergenic),chr2 g.14486177_14486178insTATGTGTGTGTGTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 14774983 . C . . NT END=15307171;NT GT ./. 2 15227347 rs55857149 AAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=156;PC=0.001;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:AAC,A:3:3:0:3:1,2:34,83:0.00,6.75:0.00,5.11:0.00,1.64:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,44.5:0,1:0,0:121,76:29,71:0,2:-,chr2 g.15227348_15227349delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 15306861 rs2241348 G C 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5156,C/0.4844 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:139:15.81:15.81:0.00:1.00:1.00:0.00:60:34.8:0:0:48:103:10:chr2 g.15306860G>C (intergenic),chr2 g.15306860G>C (intergenic):0.47,0.47:NOT_FOUND,NOT_FOUND 2 15307448 . C . . NT END=15319111;NT GT ./. 2 15319070 rs5829492 TA T 88 idl,rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1135;PC=0.019;Gene=NBAS/NM_015909.3/1;CC=c.6840+41delT;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:60:62:5:36:26,5,29:836,158,1084:0.00,11.70,87.64:0.00,9.97,74.93:0.00,1.74,12.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:19.6,2.6,26.2:0,0,6:0,0,0:46,48,46:101,103,89:31,16,35:-,NM_015909.3(NBAS) c.6840+41delT:-,NOT_FOUND:-,NOT_FOUND 2 15319241 . C . . NT END=15326865;NT GT ./. 2 15327005 . C . . NT END=15330387;NT GT ./. 2 15330211 rs2302941 G A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7242,A/0.2758;PC=0.359;Gene=NBAS/NM_015909.3/1;CC=c.6572+177C>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:12:12:0:0:3,9:98,293:8.30,0.00:8.30,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:60,60:32.7,1.2:0,0:0,0:26,74:125,77:15,22:NM_015909.3(NBAS) c.6572+177C>T,-:0.28,-:NOT_FOUND,- 2 15330528 . C . . NT END=15358896;NT GT ./. 2 15359093 . C . . NT END=15372545;NT GT ./. 2 15359339 rs10206716 C T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1466,T/0.8534;Gene=NBAS/NM_015909.3/1;CC=c.6237-247G>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:T:11:0:0:0:11:261:31.07:0.00:31.07:1.00:0.00:1.00:60:50.4:0:0:106:32:33:NM_015909.3(NBAS) c.6237-247G>A,NM_015909.3(NBAS) c.6237-247G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 2 15372636 . C . . NT END=15374668;NT GT ./. 2 15372731 rs10929352 T G 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7468,G/0.2532;Gene=NBAS/NM_015909.3/1;CC=c.6147-96A>C;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:1:0:0:14,16:436,538:41.26,0.00:1.72,0.00:39.54,0.00:1.00,0.00:0.64,0.00:1.00,0.00:60,60:34.0,16.4:0,0:0,0:110,95:41,56:20,28:NM_015909.3(NBAS) c.6147-96A>C,-:0.25,-:NOT_FOUND,- 2 15374872 . C . . NT END=15378591;NT GT ./. 2 15378811 . C . . NT END=15415607;NT GT ./. 2 15378822 rs76002488 G GAATT 124 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.01657,GAATT/0.9834,GTAAT/.;DB;DBA=NA;PAF=NA;NP=3288;Gene=NBAS/NM_015909.3/1;CC=c.5725-13_5725-12insAATT;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GAATT:46:19:36:0:10,36:315,1169:0.00,123.63:0.00,38.13:0.00,85.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,8.7:0,0:0,0:142,86:4,60:0,17:-,NM_015909.3(NBAS) c.5725-13_5725-12insAATT:-,0.99:-,0.982069 2 15415525 rs3755127 C T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.2867,T/0.7133;PC=0.131;Gene=NBAS/NM_015909.3/1;CC=c.5724+83G>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:13,9:430,263:0.00,24.11:0.00,22.36:0.00,1.74:0.00,1.00:0.00,1.00:0.00,0.61:60,60:19.9,32.1:0,0:0,0:69,20:81,131:31,9:-,NM_015909.3(NBAS) c.5724+83G>A:-,0.69:-,NOT_FOUND 2 15415943 . C . . NT END=15416974;NT GT ./. 2 15417226 . C . . NT END=15427196;NT GT ./. 2 15417280 rs397775849 ATT A 68 nt VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=ATT/0.2951,A/0.7049;DB;DBA=NA;PAF=ATT/0.2951,A/0.7049;NP=1600;Gene=NBAS/NM_015909.3/1;CC=c.5139-57_5139-56delAA;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATT,A:54:19:0:23:31,23:965,732:0.00,68.19:0.00,23.45:0.00,44.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.7,40.8:0,0:0,0:114,108:17,43:20,28:-,NM_015909.3(NBAS) c.5139-57_5139-56delAA:-,NOT_FOUND:-,NOT_FOUND 2 15417283 rs2302943 T A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=4;Gene=NBAS/NM_015909.3/1;CC=c.5139-58A>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,T:51:18:0:0:4,47:130,1479:8.82,0.00:2.23,0.00:6.59,0.00:0.54,0.00:0.65,0.00:0.89,0.00:60,60:32.5,27.4:0,23:0,0:128,111:6,33:12,26:NM_015909.3(NBAS) c.5139-58A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 15417285 rs75287593 T A 70 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.2951,A/0.7049;PC=0.001;Gene=NBAS/NM_015909.3/1;CC=c.5139-60A>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:49:16:0:0:23,26:733,789:69.52,0.00:23.64,0.00:45.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,16.7:23,0:0,0:111,117:40,19:28,22:NM_015909.3(NBAS) c.5139-60A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 15427173 rs4668892 C T 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.3327,T/0.6673;Gene=NBAS/NM_015909.3/1;CC=c.5138+24G>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:28:0:0:19,15:608,460:0.00,43.01:0.00,33.20:0.00,9.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,32.1:0,0:0,0:46,27:102,119:18,24:-,NM_015909.3(NBAS) c.5138+24G>A:-,0.65:-,0.535291 2 15427308 . C . . NT END=15432660;NT GT ./. 2 15432891 . C . . NT END=15448339;NT GT ./. 2 15448311 rs1318102 A T 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.3317,G/.,T/0.6683;Gene=NBAS/NM_015909.3/1;CC=c.4797+29T>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:50:46:0:0:27,23:839,681:0.00,64.04:0.00,49.53:0.00,14.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,38.1:0,0:0,0:64,62:87,87:34,37:-,NM_015909.3(NBAS) c.4797+29T>A:-,0.63:-,0.542442 2 15448478 . C . . NT END=15449294;NT GT ./. 2 15449372 . C . . NT END=15467873;NT GT ./. 2 15467995 . C . . NT END=15468322;NT GT ./. 2 15468025 rs2042145 T C 77 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.7426,C/0.2574;Gene=NBAS/NM_015909.3/1;CC=c.4462-31A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:24:0:0:23,20:793,646:77.37,0.00:26.69,0.00:50.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,6.5:0,0:0,0:93,90:56,55:31,39:NM_015909.3(NBAS) c.4462-31A>G,-:0.27,-:0.247732,- 2 15468437 . C . . NT END=15470721;NT GT ./. 2 15470890 . C . . NT END=15492115;NT GT ./. 2 15471002 rs6759219 C A 104 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.5282,A/0.4718;Gene=NBAS/NM_015909.3/1;CC=c.4180-113G>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:1:0:0:30:903:104.41:1.84:102.58:1.00:1.00:1.00:60:63.8:0:0:87:63:41:NM_015909.3(NBAS) c.4180-113G>T,NM_015909.3(NBAS) c.4180-113G>T:0.48,0.48:NOT_FOUND,NOT_FOUND 2 15471027 rs6717303 T C 99 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6715,C/0.3285;Gene=NBAS/NM_015909.3/1;CC=c.4180-138A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:0:0:0:26:871:99.48:0.00:99.48:1.00:0.00:1.00:60:64.7:0:0:66:84:34:NM_015909.3(NBAS) c.4180-138A>G,NM_015909.3(NBAS) c.4180-138A>G:0.32,0.32:NOT_FOUND,NOT_FOUND 2 15478798 . TACAC T,TACACACACAC 7 idl,nt VT=DEL;SST=Single;DP=4;NP=9;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:30:TACACACACAC,T:3:4:2:2:1,2:67,67:3.28,7.05:1.64,3.53:1.64,3.53:0.00,0.51:0.00,0.51:0.00,0.89:60,60:82.0,5.5:1,0:0,0:43,42:107,108:15,27:NM_015909.3(NBAS) c.4180-7913_4180-7910delGTGT,NM_015909.3(NBAS) c.4180-7913GT[5]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 15491994 rs142247089 GCACACACACA G 20 idl,nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=261;PC=0.013;Gene=NBAS/NM_015909.3/1;CC=c.4179+112_4179+121delTGTGTGTGTG;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:GCACACACACA,G:11:15:0:10:5,6:153,328:0.00,19.97:0.00,18.29:0.00,1.68:0.00,0.96:0.00,0.96:0.00,0.70:60,60:66.6,8.8:0,4:0,0:99,56:52,94:17,28:-,NM_015909.3(NBAS) c.4179+112_4179+121delTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 15492206 . C . . NT END=15493676;NT GT ./. 2 15493835 . C . . NT END=15496426;NT GT ./. 2 15493881 rs2277915 A G 97 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.6254,G/0.3746;Gene=NBAS/NM_015909.3/1;CC=c.3932-47T>C;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:19:0:0:25,32:813,991:0.00,97.34:0.00,15.77:0.00,81.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,36.8:0,0:0,0:86,106:64,39:17,30:-,NM_015909.3(NBAS) c.3932-47T>C:-,0.42:-,0.538444 2 15496541 . C . . NT END=15506703;NT GT ./. 2 15496708 rs3731997 G T 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9227,T/0.07728;Gene=NBAS/NM_015909.3/1;CC=c.3818-168C>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,T:15:0:0:0:8,7:280,188:0.00,17.61:0.00,0.00:0.00,17.61:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.1,66.3:0,0:0,0:107,108:43,43:37,10:-,NM_015909.3(NBAS) c.3818-168C>A:-,0.09:-,NOT_FOUND 2 15506818 . C . . NT END=15514731;NT GT ./. 2 15514845 . C . . NT END=15519725;NT GT ./. 2 15514982 rs2049720 T C 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5489,C/0.4511;Gene=NBAS/NM_015909.3/1;CC=c.3591-138A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:10:0:0:0:6,4:182,136:18.14,0.00:0.00,0.00:18.14,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:64.8,0.0:0,0:0,0:67,109:68,42:56,6:NM_015909.3(NBAS) c.3591-138A>G,-:0.46,-:NOT_FOUND,- 2 15515058 rs2049719 A G 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.476,G/0.524;PC=0.005;Gene=NBAS/NM_015909.3/1;CC=c.3591-214T>C;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:5:0:0:0:2,3:63,79:0.00,7.83:0.00,0.00:0.00,7.83:0.00,0.78:0.00,0.00:0.00,0.78:60,60:5.0,97.7:0,0:0,0:78,95:70,56:49,18:-,NM_015909.3(NBAS) c.3591-214T>C:-,0.53:-,NOT_FOUND 2 15519956 . C . . NT END=15523338;NT GT ./. 2 15519992 rs2058866 G T 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.4826,C/.,T/0.5174;Gene=NBAS/NM_015909.3/1;CC=c.3361-37C>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:41:12:0:0:1,1,25,14:13,10,763,450:0.11,-0.05,0.00,40.62:-0.04,-0.04,0.00,9.66:0.15,-0.01,0.00,30.96:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,70,60:62.0,112.0,5.5,38.1:0,0,0,0:0,0,0,0:47,62,122,96:103,62,27,49:0,0,21,21:-,NM_015909.3(NBAS) c.3361-37C>A:-,0.52:-,0.642692 2 15520153 rs2058867 T C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.472,C/0.528;Gene=NBAS/NM_015909.3/1;CC=c.3361-198A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:C,T:5:0:0:0:3,2:66,40:6.61,0.00:0.00,0.00:6.61,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:46.0,54.0:0,0:0,0:69,80:82,70:31,22:NM_015909.3(NBAS) c.3361-198A>G,-:0.53,-:NOT_FOUND,- 2 15523266 rs6756934 A T 66 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.01797,T/0.982;Gene=NBAS/NM_015909.3/1;CC=c.3360+73T>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:19:0:0:19:570:65.97:58.57:7.40:1.00:1.00:1.00:60:37.6:0:0:24:127:19:NM_015909.3(NBAS) c.3360+73T>A,NM_015909.3(NBAS) c.3360+73T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 15523307 rs3834149 TA T 44 rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=TA/0.509,T/0.491;NP=2808;PC=0.013;Gene=NBAS/NM_015909.3/1;CC=c.3360+31delT;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:26:25:0:14:12,14:390,447:0.00,43.58:0.00,34.46:0.00,9.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.2,22.7:0,0:0,0:43,62:100,88:32,37:-,NM_015909.3(NBAS) c.3360+31delT:-,NOT_FOUND:-,NOT_FOUND 2 15523442 . C . . NT END=15534350;NT GT ./. 2 15523549 rs3755129 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.4826,C/0.5174;Gene=NBAS/NM_015909.3/1;CC=c.3258-108A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:1:0:0:10,11:333,347:31.75,0.00:3.66,0.00:28.09,0.00:1.00,0.00:0.65,0.00:1.00,0.00:60,60:38.0,2.2:0,0:0,0:76,116:75,35:32,26:NM_015909.3(NBAS) c.3258-108A>G,-:0.52,-:NOT_FOUND,- 2 15534474 . C . . NT END=15536536;NT GT ./. 2 15534642 rs3792578 G A 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4826,A/0.5174;Gene=NBAS/NM_015909.3/1;CC=c.3135-169C>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:8,6:257,206:25.36,0.00:0.00,0.00:25.36,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:67.0,7.3:0,0:0,0:107,117:32,33:27,13:NM_015909.3(NBAS) c.3135-169C>T,-:0.52,-:NOT_FOUND,- 2 15534723 rs3792579 A G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.472,G/0.528;PC=0.007;Gene=NBAS/NM_015909.3/1;CC=c.3135-250T>C;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G:4:0:0:0:1,3:28,103:0.00,10.75:0.00,0.00:0.00,10.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,69.0:0,0:0,0:148,102:3,49:0,26:-,NM_015909.3(NBAS) c.3135-250T>C:-,0.53:-,NOT_FOUND 2 15536509 . GA G 23 rn VT=DEL;SST=Single;DP=11;NP=18;PC=0.002;Gene=NBAS/NM_015909.3/1;CC=c.3134+27delT;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:GA,I,G:11:9:1:8:3,1,7:83,21,222:0.00,1.42,22.86:0.00,-0.04,20.04:0.00,1.46,2.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.7,145.0,11.3:0,0,0:0,0,0:8,93,40:105,41,99:5,0,35:-,NM_015909.3(NBAS) c.3134+27delT:-,NOT_FOUND:-,NOT_FOUND 2 15536600 . C . . NT END=15542291;NT GT ./. 2 15542159 rs6733647 A G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4601,G/0.5399;Gene=NBAS/NM_015909.3/1;CC=c.3071+133T>C;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:9,9:262,275:0.00,26.37:0.00,26.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.0,42.0:0,0:0,0:83,62:64,89:23,58:-,NM_015909.3(NBAS) c.3071+133T>C:-,0.54:-,NOT_FOUND 2 15542352 rs16862653 C T 95 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.9323,T/0.06769;PC=1.000;Gene=NBAS/NM_015909.3/1;CC=c.3011G>A;ProtCh=p.R1004Q;VC=Missense;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:43:0:0:39,31:1212,1007:0.00,94.62:0.00,52.24:0.00,42.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,42.6:0,0:0,0:91,66:59,81:39,26:-,NM_015909.3(NBAS) c.3011G>A (p.Arg1004Gln):-,0.08:-,0.062433 2 15542426 . C . . NT END=15555669;NT GT ./. 2 15544045 rs4668906 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5192,C/0.4808;NP=540;Gene=NBAS/NM_015909.3/1;CC=c.2938-1620A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:2:0:0:2,2:68,66:6.55,0.00:3.53,0.00:3.02,0.00:0.51,0.00:0.79,0.00:0.89,0.00:60,60:39.0,0.0:0,0:0,0:67,46:83,104:40,42:NM_015909.3(NBAS) c.2938-1620A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 15555844 . C . . NT END=15557650;NT GT ./. 2 15557535 rs1528622 A T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6214,T/0.3786;PC=0.001;Gene=NBAS/NM_015909.3/1;CC=c.2763+116T>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,T:13:13:0:0:8,5:238,162:0.00,14.85:0.00,14.85:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:16.1,34.4:0,0:0,0:74,18:76,133:21,6:-,NM_015909.3(NBAS) c.2763+116T>A:-,0.41:-,NOT_FOUND 2 15557837 . C . . NT END=15564438;NT GT ./. 2 15564593 . C . . NT END=15567834;NT GT ./. 2 15564718 rs10929367 T C 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.49,C/0.51;PC=0.001;Gene=NBAS/NM_015909.3/1;CC=c.2424-126A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:2:0:0:6,10:205,318:18.77,0.00:1.52,0.00:17.24,0.00:0.95,0.00:0.67,0.00:1.00,0.00:60,60:47.2,11.5:0,0:0,0:104,115:47,34:41,30:NM_015909.3(NBAS) c.2424-126A>G,-:0.5,-:NOT_FOUND,- 2 15564799 rs6748427 T C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5244,C/0.4756;PC=0.099;Gene=NBAS/NM_015909.3/1;CC=c.2424-207A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,T:9:0:0:0:4,5:137,164:12.92,0.00:0.00,0.00:12.92,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:56.8,0.0:0,0:0,0:81,115:69,36:38,35:NM_015909.3(NBAS) c.2424-207A>G,-:0.47,-:NOT_FOUND,- 2 15567649 rs3796002 T C 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4629,C/0.5371;Gene=NBAS/NM_015909.3/1;CC=c.2423+186A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:6:6:0:0:3,3:104,97:10.03,0.00:10.03,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:58.0,0.0:0,0:0,0:15,34:136,116:8,25:NM_015909.3(NBAS) c.2423+186A>G,-:0.54,-:NOT_FOUND,- 2 15567919 . C . . NT END=15601324;NT GT ./. 2 15601287 . A AT 54 nt VT=INS;SST=Single;DP=36;NP=2404;Gene=NBAS/NM_015909.3/1;CC=c.2339+37_2339+38insA;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AT:36:33:18:0:17,1,18:523,13,557:0.00,0.20,53.76:0.00,-0.17,46.16:0.00,0.37,7.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.9,51.0,4.3:0,0,0:0,0,0:50,2,46:98,149,104:24,0,20:-,NM_015909.3(NBAS) c.2339+37_2339+38insA:-,0.52:-,0.647468 2 15601441 rs7590340 C T 67 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.4764,T/0.5236;PC=0.027;Gene=NBAS/NM_015909.3/1;CC=c.2223G>A;ProtCh=p.L741=;VC=Silent;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:24:0:0:25,21:849,705:0.00,66.75:0.00,24.84:0.00,41.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,39.4:0,0:0,0:83,82:67,68:39,33:-,NM_015909.3(NBAS) c.2223G>A (p.(=)):-,0.53:-,0.649316 2 15601462 . C . . NT END=15601810;NT GT ./. 2 15601574 rs7590458 C T 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4746,T/0.5254;PC=0.021;Gene=NBAS/NM_015909.3/1;CC=c.2203-113G>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:2:0:0:9,8:277,261:0.00,24.83:0.00,3.47:0.00,21.36:0.00,0.99:0.00,0.77:0.00,1.00:60,60:2.3,36.1:0,0:0,0:92,77:58,73:33,14:-,NM_015909.3(NBAS) c.2203-113G>A:-,0.53:-,NOT_FOUND 2 15601916 . C . . NT END=15607452;NT GT ./. 2 15607532 . C . . NT END=15607787;NT GT ./. 2 15607842 rs4668909 T C 31 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6394,C/0.3606;PC=0.996;Gene=NBAS/NM_015909.3/1;CC=c.1964A>G;ProtCh=p.K655R;VC=Missense;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:23:0:0:10,18:342,619:31.05,0.00:16.36,0.00:14.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,4.4:0,0:0,0:78,87:70,50:13,33:NM_015909.3(NBAS) c.1964A>G (p.Lys655Arg),-:0.4,-:0.524762,- 2 15607929 . C . . NT END=15608505;NT GT ./. 2 15608013 rs4668910 C A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.4601,A/0.5399;Gene=NBAS/NM_015909.3/1;CC=c.1878-85G>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,C:14:2:0:0:5,9:157,299:14.12,0.00:1.57,0.00:12.55,0.00:0.90,0.00:0.66,0.00:0.90,0.00:60,60:33.0,2.7:0,0:0,0:142,99:6,52:4,32:NM_015909.3(NBAS) c.1878-85G>T,-:0.54,-:NOT_FOUND,- 2 15608210 rs6716384 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5072,G/0.4928;Gene=NBAS/NM_015909.3/1;CC=c.1878-282T>C;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,G:4:3:0:0:1,3:22,98:0.00,10.26:0.00,6.40:0.00,3.85:0.00,0.85:0.00,0.99:0.00,0.83:60,60:97.0,59.0:0,0:0,0:102,54:48,97:0,37:-,NM_015909.3(NBAS) c.1878-282T>C:-,0.49:-,NOT_FOUND 2 15608658 . C . . NT END=15613345;NT GT ./. 2 15613472 . C . . NT END=15614190;NT GT ./. 2 15613678 rs11898971 T C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4986,C/0.5014;Gene=NBAS/NM_015909.3/1;CC=c.1600-207A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:C,T:15:1:0:0:5,10:167,278:14.94,0.00:-0.18,0.00:15.12,0.00:0.89,0.00:0.56,0.00:0.99,0.00:60,60:67.6,18.9:0,0:0,0:72,123:79,26:35,21:NM_015909.3(NBAS) c.1600-207A>G,-:0.5,-:NOT_FOUND,- 2 15613715 rs11893303 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5074,A/0.4926;Gene=NBAS/NM_015909.3/1;CC=c.1600-244C>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:9:1:0:0:5,4:176,125:17.30,0.00:-0.35,0.00:17.65,0.00:0.96,0.00:0.70,0.00:1.00,0.00:60,60:74.8,0.0:0,0:0,0:74,123:74,27:35,16:NM_015909.3(NBAS) c.1600-244C>T,-:0.49,-:NOT_FOUND,- 2 15613994 rs11900088 T C 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5072,C/0.4928;Gene=NBAS/NM_015909.3/1;CC=c.1599+197A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:10:10:0:0:7,3:236,99:24.29,0.00:24.29,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.0,0.0:0,0:0,0:25,8:125,142:23,1:NM_015909.3(NBAS) c.1599+197A>G,-:0.49,-:NOT_FOUND,- 2 15614404 rs13014906 T C 99 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.4806,C/0.5194;Gene=NBAS/NM_015909.3/1;CC=c.1386A>G;ProtCh=p.R462=;VC=Silent;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:34:0:0:33,25:1010,759:99.44,0.00:54.13,0.00:45.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,1.4:0,0:0,0:96,92:55,58:24,42:NM_015909.3(NBAS) c.1386A>G (p.(=)),-:0.53,-:0.645625,- 2 15614449 . C . . NT END=15615810;NT GT ./. 2 15615704 rs35237017 T C 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6394,C/0.3606;PC=0.001;Gene=NBAS/NM_015909.3/1;CC=c.1341+107A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:20:20:0:0:16,4:517,127:54.95,0.00:54.95,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.8,20.0:0,0:0,0:46,75:104,75:20,34:NM_015909.3(NBAS) c.1341+107A>G,-:0.4,-:NOT_FOUND,- 2 15615910 rs1990754 A G 105 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.5072,G/0.4928;Gene=NBAS/NM_015909.3/1;CC=c.1242T>C;ProtCh=p.S414=;VC=Silent;Gene=NBAS/NR_052013.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:26:0:0:19,33:661,1037:0.00,104.60:0.00,23.86:0.00,80.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,42.5:0,0:0,0:80,69:64,81:31,25:-,NM_015909.3(NBAS) c.1242T>C (p.(=)):-,0.49:-,0.636322 2 15616005 . C . . NT END=15618349;NT GT ./. 2 15616013 rs1990755 C G 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5072,G/0.4928,T/.;Gene=NBAS/NM_015909.3/1;CC=c.1148-9G>C;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:29:12:0:0:14,15:456,465:0.00,44.91:0.00,3.33:0.00,41.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,71.1:0,0:0,0:93,106:56,34:22,32:-,NM_015909.3(NBAS) c.1148-9G>C:-,0.49:-,0.634861 2 15616030 rs1990756 C T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.508,T/0.492;Gene=NBAS/NM_015909.3/1;CC=c.1148-26G>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:9:0:0:14,11:491,281:0.00,25.79:0.00,2.03:0.00,23.75:0.00,1.00:0.00,0.99:0.00,1.00:60,60:13.6,75.0:0,0:0,0:102,105:48,44:16,28:-,NM_015909.3(NBAS) c.1148-26G>A:-,0.49:-,0.634266 2 15618339 rs1125534 G A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.4724,A/0.5276;PC=0.001;Gene=NBAS/NM_015909.3/1;CC=c.1147+11C>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:30:0:0:12,21:397,657:36.03,0.00:32.25,0.00:3.78,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.3,1.1:0,0:0,0:62,55:89,96:28,25:NM_015909.3(NBAS) c.1147+11C>T,-:0.53,-:0.652568,- 2 15618414 . C . . NT END=15629017;NT GT ./. 2 15629147 . C . . NT END=15644268;NT GT ./. 2 15644338 . C . . NT END=15651335;NT GT ./. 2 15651475 . C . . NT END=15674666;NT GT ./. 2 15674686 rs13029846 T C 59 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6108,C/0.3892;PC=0.001;Gene=NBAS/NM_015909.3/1;CC=c.727A>G;ProtCh=p.I243V;VC=Missense;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:30:0:0:18,18:614,604:59.15,0.00:32.10,0.00:27.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,4.8:0,0:0,0:31,48:119,90:16,29:NM_015909.3(NBAS) c.727A>G (p.Ile243Val),-:0.42,-:0.551053,- 2 15674766 . C . . NT END=15676541;NT GT ./. 2 15676456 . C CA 10 rn VT=INS;SST=Single;DP=31;NP=43;Gene=NBAS/NM_015909.3/1;CC=c.647+85dupT;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,CA,D:30:30:4:2:25,4,1:806,132,64:0.00,10.06,1.93:0.00,10.27,1.98:0.00,-0.21,-0.05:0.00,0.64,0.00:0.00,0.95,0.00:0.00,0.54,0.00:60,60,60:9.0,13.8,73.0:0,0,1:0,0,0:69,39,16:82,111,135:41,24,12:-,NM_015909.3(NBAS) c.647+85_647+86insT:-,NOT_FOUND:-,NOT_FOUND 2 15676676 . C . . NT END=15679346;NT GT ./. 2 15676686 rs10208972 G A 73 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.4617,A/0.5383;Gene=NBAS/NM_015909.3/1;CC=c.514-11C>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:17:0:0:23,18:740,527:72.77,0.00:20.30,0.00:52.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,25.1:0,0:0,0:63,106:64,41:41,21:NM_015909.3(NBAS) c.514-11C>T,-:0.54,-:0.666154,- 2 15676703 rs57935128 T TA 11 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=2;NP=27;PC=0.223;Gene=NBAS/NM_015909.3/1;CC=c.514-29dupT;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:T,TA,D:35:11:6:5:26,5,4:659,165,159:0.00,10.64,9.37:0.00,1.20,1.21:0.00,9.44,8.17:0.00,0.77,0.00:0.00,0.73,0.00:0.00,0.98,0.00:60,60,60:44.8,29.8,44.2:0,1,1:0,0,0:86,43,89:45,75,47:41,21,18:-,NM_015909.3(NBAS) c.514-29_514-28insT:-,NOT_FOUND:-,NOT_FOUND 2 15676884 rs10929374 T A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6244,A/0.3756;Gene=NBAS/NM_015909.3/1;CC=c.514-209A>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,T:9:0:0:0:6,3:184,102:18.74,0.00:0.00,0.00:18.74,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:66.8,43.0:0,0:0,0:110,93:39,58:15,11:NM_015909.3(NBAS) c.514-209A>T,-:0.41,-:NOT_FOUND,- 2 15679481 . C . . NT END=15691616;NT GT ./. 2 15679609 rs2058868 A T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4617,T/0.5383;Gene=NBAS/NM_015909.3/1;CC=c.380-129T>A;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:18:1:0:0:9,9:289,304:0.00,29.28:0.00,1.69:0.00,27.59:0.00,1.00:0.00,0.67:0.00,1.00:60,60:2.3,51.9:0,0:0,0:78,75:73,75:42,47:-,NM_015909.3(NBAS) c.380-129T>A:-,0.54:-,NOT_FOUND 2 15679700 rs2058869 T C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4617,C/0.5383;Gene=NBAS/NM_015909.3/1;CC=c.380-220A>G;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,T:8:0:0:0:5,3:144,94:14.45,0.00:0.00,0.00:14.45,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:68.2,3.7:0,0:0,0:109,126:41,25:30,5:NM_015909.3(NBAS) c.380-220A>G,-:0.54,-:NOT_FOUND,- 2 15691661 . C . . NT END=15693549;NT GT ./. 2 15691886 rs7572131 G A 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5022,A/0.4978;PC=0.028;Gene=NBAS/NM_015909.3/1;CC=c.336-226C>T;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:8:0:0:0:4,4:134,122:12.90,0.00:0.00,0.00:12.90,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:33.5,12.8:0,0:0,0:67,130:83,19:32,11:NM_015909.3(NBAS) c.336-226C>T,-:0.49,-:NOT_FOUND,- 2 15693598 . C . . NT END=15694184;NT GT ./. 2 15694164 . T TA 43 nt VT=INS;SST=Single;DP=26;NP=2672;Gene=NBAS/NM_015909.3/1;CC=c.287+20_287+21insT;VC=Intron;Gene=NBAS/NR_052013.2/0;VC=NonCoding;DM=NBAS/Sec39;DM=NBAS/Nbas_N;DM=NBAS/Sec39;DM=NBAS/Nbas_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:26:23:14:0:12,14:402,439:0.00,42.78:0.00,22.45:0.00,20.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,8.4:0,0:0,0:32,72:111,72:26,25:-,NM_015909.3(NBAS) c.287+20_287+21insT:-,0.54:-,0.667093 2 15694263 . C . . NT END=15696906;NT GT ./. 2 15696944 . C . . NT END=15698703;NT GT ./. 2 15698759 . C . . NT END=15701311;NT GT ./. 2 15701429 . G . . NT END=15732057;NT GT ./. 2 15731043 . CTG C,CTGTGTG 7 end,nt VT=INS;SST=Single;DP=4;NP=2;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:21:CTG,CTGTGTG,C:4:4:2:1:1,2,1:12,66,34:0.00,6.66,3.15:0.00,4.97,1.52:0.00,1.69,1.64:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.79,0.00:60,60,60:123.0,0.0,0.0:0,0,0:0,0,0:36,62,10:115,59,141:0,43,0:NM_004939.2(DDX1) c.-313-u701_-313-u700delTG,NM_004939.2(DDX1) c.-313-u701TG[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 15732074 . G . . NT END=15735268;NT GT ./. 2 15735321 . G . . NT END=15735613;NT GT ./. 2 15735678 . G . . NT END=15736857;NT GT ./. 2 15736888 . G . . NT END=15737498;NT GT ./. 2 15737596 . G . . NT END=15739792;NT GT ./. 2 15739841 . G . . NT END=15742671;NT GT ./. 2 15739980 rs149496277 C T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.995,T/0.004992;NP=59;Gene=DDX1/NM_004939.2/1;CC=c.307+140C>T;VC=Intron;DM=DDX1/DEAD;DM=DDX1/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,T:6:0:0:0:3,3:83,84:0.00,8.03:0.00,0.00:0.00,8.03:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,28.0:0,0:0,0:110,73:40,78:6,14:-,NM_004939.2(DDX1) c.307+140C>T:-,0.0046:-,NOT_FOUND 2 15742756 . G . . NT END=15743315;NT GT ./. 2 15743400 . G . . NT END=15743937;NT GT ./. 2 15744015 . G . . NT END=15744560;NT GT ./. 2 15744634 . G . . NT END=15746073;NT GT ./. 2 15746151 . G . . NT END=15746273;NT GT ./. 2 15746389 . G . . NT END=15747298;NT GT ./. 2 15747438 . G . . NT END=15753347;NT GT ./. 2 15753307 . AT A 16 idl,rn VT=DEL;SST=Single;DP=33;NP=2;Gene=DDX1/NM_004939.2/1;CC=c.957-28delT;VC=Intron;DM=DDX1/DEAD;DM=DDX1/DEAD;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:AT,I,A:33:32:4:6:23,4,6:747,125,198:0.00,9.45,16.22:0.00,9.76,10.52:0.00,-0.31,5.70:0.00,0.00,0.89:0.00,0.00,0.99:0.00,0.00,0.89:60,60,60:5.2,8.8,4.0:0,0,0:0,0,0:55,86,38:94,64,112:24,6,18:-,NM_004939.2(DDX1) c.957-40delT:-,NOT_FOUND:-,NOT_FOUND 2 15753409 . G . . NT END=15757367;NT GT ./. 2 15757467 . G . . NT END=15758304;NT GT ./. 2 15758395 . G . . NT END=15760331;NT GT ./. 2 15760521 . G . . NT END=15761188;NT GT ./. 2 15761241 . G . . NT END=15763559;NT GT ./. 2 15763341 rs77288309 A T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9698,T/0.03015;PC=0.002;Gene=DDX1/NM_004939.2/1;CC=c.1448-219A>T;VC=Intron;DM=DDX1/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,T:5:5:0:0:2,3:67,98:0.00,9.77:0.00,9.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,42.0:0,0:0,0:96,51:53,100:31,31:-,NM_004939.2(DDX1) c.1448-219A>T:-,0.03:-,NOT_FOUND 2 15763707 . G . . NT END=15767177;NT GT ./. 2 15767270 . G . . NT END=15768568;NT GT ./. 2 15767312 . G A 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;Gene=DDX1/NM_004939.2/1;CC=c.1686+43G>A;VC=Intron;DM=DDX1/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:23:7:0:0:13,9,1:391,272,10:38.83,0.00,0.16:8.56,0.00,-0.03:30.27,0.00,0.18:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:32.5,3.7,66.0:0,0,0:0,0,0:105,118,94:45,33,56:19,17,0:NM_004939.2(DDX1) c.1686+43G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 15768642 . G . . NT END=15768761;NT GT ./. 2 15768835 . G . . NT END=15768920;NT GT ./. 2 15768964 . G . . NT END=15769725;NT GT ./. 2 15768981 rs62122280 C G 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8417,G/0.1583;Gene=DDX1/NM_004939.2/1;CC=c.1875+18C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:15:0:0:18,15:592,519:0.00,49.19:0.00,19.06:0.00,30.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,36.4:0,0:0,0:82,93:60,58:29,18:-,NM_004939.2(DDX1) c.1875+18C>G:-,0.2:-,0.26538 2 15769822 . G . . NT END=15770113;NT GT ./. 2 15770235 . G . . NT END=15770899;NT GT ./. 2 15771031 . T . . NT END=16082186;NT GT ./. 2 15921090 rs56243489 T G 15 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.406,G/0.594 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:134:15.31:9.59:5.72:1.00:1.00:1.00:60:81.2:4:0:70:63:25:chr2 g.15921089T>G (intergenic),chr2 g.15921089T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 15921092 rs200886610 T G 13 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5455,G/0.4545;NP=1;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:114:13.30:7.94:5.36:1.00:1.00:1.00:60:81.2:4:0:72:61:25:chr2 g.15921091T>G (intergenic),chr2 g.15921091T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 16029200 rs59857781 TCACA T 8 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:TCACA,T:4:2:0:3:1,3:12,73:0.00,7.77:0.00,3.15:0.00,4.62:0.00,0.85:0.00,0.95:0.00,0.85:60,70:35.0,34.3:0,0:0,0:9,48:140,91:0,5:-,chr2 g.16029201_16029204delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 16082977 . G . . NT END=16085614;NT GT ./. 2 16086220 . A . . NT END=16734203;NT GT ./. 2 16129203 rs56376344 G GCA 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;NP=4;NP=5;NP=51;PC=0.916;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,GCA:4:1:2:0:2,2:68,67:0.00,6.45:0.00,1.74:0.00,4.71:0.00,0.51:0.00,0.67:0.00,0.51:60,60:17.0,0.0:0,0:0,0:96,80:33,58:3,22:-,chr2 g.16129203_16129204insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 16253984 rs375445145 T TGA 18 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.597,TGA/0.403;NP=1;NP=8;PC=0.004;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TGA:5:4:5:0:5:156:17.98:10.68:7.30:1.00:1.00:1.00:60:17.6:0:0:48:86:17:chr2 g.16253984_16253985insGA (intergenic),chr2 g.16253984_16253985insGA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 16474658 rs397983953 AAC A 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=201;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:AAC,A:4:4:0:3:1,3:27,94:0.00,9.85:0.00,8.23:0.00,1.63:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,0.0:0,0:0,0:147,49:3,102:0,19:-,chr2 g.16474659_16474660delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 16734268 . C . . NT END=16736336;NT GT ./. 2 16734295 rs114377299 A G 52 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.9687,G/0.03135;PC=0.714;Gene=FAM49A/NM_030797.3/1;CC=c.909-28T>C;VC=Intron;DM=FAM49A/DUF1394 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:5:0:0:9,16:284,519:0.00,52.46:0.00,10.63:0.00,41.83:0.00,1.00:0.00,0.99:0.00,1.00:60,60:19.2,34.0:0,0:0,0:89,109:62,38:29,26:-,NM_030797.3(FAM49A) c.909-28T>C:-,0.04:-,0.05559 2 16736408 . C . . NT END=16740727;NT GT ./. 2 16740855 . C . . NT END=16742257;NT GT ./. 2 16742338 . C . . NT END=16742428;NT GT ./. 2 16742546 . C . . NT END=16742723;NT GT ./. 2 16742802 . C . . NT END=16743272;NT GT ./. 2 16743410 . C . . NT END=16745256;NT GT ./. 2 16743453 rs6751062 A C 68 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.4794,C/0.5206,T/.;Gene=FAM49A/NM_030797.3/1;CC=c.299-44T>G;VC=Intron;DM=FAM49A/DUF1394 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:56:21:0:0:31,25:1078,732:0.00,68.23:0.00,18.43:0.00,49.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,36.2:0,0:0,0:90,110:61,40:20,25:-,NM_030797.3(FAM49A) c.299-44T>G:-,0.44:-,0.558991 2 16745363 . C . . NT END=16746913;NT GT ./. 2 16747036 . C . . NT END=16769317;NT GT ./. 2 16769388 . C . . NT END=17692070;NT GT ./. 2 16958672 rs4456709 G GGT 8 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6891,GGT/0.3109;DB;DBA=NA;PAF=NA;NP=1;NP=286;PC=0.002;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:G,GGT:4:4:3:0:1,3:24,79:0.00,8.34:0.00,4.74:0.00,3.60:0.00,0.85:0.00,0.85:0.00,0.95:60,60:73.0,30.7:1,0:0,0:58,77:51,44:0,24:-,chr2 g.16958672_16958673insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 17325341 rs10174498 T G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.002196,G/0.9978;NP=6;PC=0.175 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:176:19.98:15.96:4.03:1.00:1.00:1.00:60:55.4:0:0:93:58:37:chr2 g.17325340T>G (intergenic),chr2 g.17325340T>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 17325432 rs71447280 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7688,G/0.2312;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,G:7:5:0:0:1,6:28,187:0.00,20.31:0.00,8.93:0.00,11.38:0.00,1.00:0.00,1.00:0.00,1.00:33,60:81.0,70.0:0,0:0,0:123,67:4,77:0,28:-,chr2 g.17325431A>G (intergenic):-,0.24:-,NOT_FOUND 2 17383459 rs1507977 T G 16 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4704,G/0.5296 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:138:15.71:13.82:1.89:1.00:1.00:1.00:60:43.0:0:0:33:118:21:chr2 g.17383458T>G (intergenic),chr2 g.17383458T>G (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 2 17383545 rs60930182 G GGTGTGT 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6216,GGTGTGT/0.3784;DB;DBA=NA;PAF=G/0.6216,GATGTG/.,GGT/.,GGTA/.,GGTGTGT/0.3784,GGTGTGTGT/.;NP=2;NP=3;NP=4;PC=0.001;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,GGTGTGT:5:5:4:0:2,3:72,121:0.00,8.72:0.00,5.55:0.00,3.17:0.00,0.73:0.00,0.96:0.00,0.96:60,70:36.0,33.3:0,1:0,0:105,90:44,51:27,7:-,chr2 g.17383545_17383546insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 17466075 rs10208884 A G 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3616,G/0.6384;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:3:0:0:7,10:197,325:0.00,32.29:0.00,5.72:0.00,26.57:0.00,1.00:0.00,0.94:0.00,1.00:60,60:5.3,33.9:0,0:0,0:56,61:95,87:22,14:-,chr2 g.17466074A>G (intergenic):-,0.61:-,NOT_FOUND 2 17566634 rs2946573 A G 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4243,G/0.5757;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:13:0:0:16:524:60.00:38.02:21.97:1.00:1.00:1.00:60:47.1:0:0:56:86:30:chr2 g.17566633A>G (intergenic),chr2 g.17566633A>G (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 2 17566856 rs11688807 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8944,T/0.1056;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:13:0:0:13,7:416,240:0.00,21.72:0.00,10.53:0.00,11.19:0.00,0.97:0.00,0.99:0.00,0.97:60,60:12.6,37.0:0,0:0,0:93,89:57,62:39,45:-,chr2 g.17566855C>T (intergenic):-,0.09:-,NOT_FOUND 2 17691950 rs398090175 CA C 20 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CA/0.4103,C/0.5897;DB;DBA=NA;PAF=CA/0.4103,C/0.5897;NP=581;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:CA,I,C:10:12:3:7:2,2,6:69,101,227:0.00,6.04,19.96:0.00,6.04,19.96:0.00,0.00,0.00:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.00:60,60,60:4.5,0.0,7.3:0,1,1:0,0,0:62,53,36:88,98,115:40,19,22:-,chr2 g.17691951delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 17692223 . C . . NT END=17695278;NT GT ./. 2 17695360 . C . . NT END=17696435;NT GT ./. 2 17695803 rs75497408 C CG 23 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.9467,G/0.05331;NP=1029;NP=2;NP=2;NP=2;NP=83;PC=0.317;Gene=RAD51AP2/NM_001099218.2/1;CC=c.3248-445_3248-444insC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,G,CG:14:2:8:0:3,3,8:86,55,220:0.00,4.63,22.76:0.00,-0.05,1.58:0.00,4.68,21.18:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,60,70:3.7,63.7,50.5:0,1,0:0,0,0:147,57,59:4,94,80:2,1,25:-,NM_001099218.2(RAD51AP2) c.3248-445_3248-444insC:-,NOT_FOUND:-,NOT_FOUND 2 17696274 rs34060092 GA G 8 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3;PC=0.015;Gene=RAD51AP2/NM_001099218.2/1;CC=c.3247+161delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:GA,G:7:7:0:3:4,3:112,91:0.00,8.46:0.00,8.46:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:13.0,35.3:0,0:0,0:61,52:90,99:22,27:-,NM_001099218.2(RAD51AP2) c.3247+161delT:-,NOT_FOUND:-,NOT_FOUND 2 17696573 rs834514 C T 76 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.4193,T/0.5807;Gene=RAD51AP2/NM_001099218.2/1;CC=c.3110G>A;ProtCh=p.G1037D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:40:0:0:27,25:844,794:0.00,75.72:0.00,50.27:0.00,25.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,36.4:0,0:0,0:87,101:61,50:44,37:-,NM_001099218.2(RAD51AP2) c.3110G>A (p.Gly1037Asp):-,0.58:-,0.511555 2 17698678 rs665312 A G 64 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.4012,G/0.5988;Gene=RAD51AP2/NM_001099218.2/1;CC=c.1005T>C;ProtCh=p.S335=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:38:0:0:35,22:1113,697:0.00,63.66:0.00,38.28:0.00,25.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,37.7:0,0:0,0:93,83:57,67:41,34:-,NM_001099218.2(RAD51AP2) c.1005T>C (p.(=)):-,0.6:-,0.545131 2 17699683 . G . . NT END=17773341;NT GT ./. 2 17773504 . G . . NT END=17830676;NT GT ./. 2 17773524 rs2680827 G A 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.2957,A/0.7043;Gene=VSNL1/NM_003385.4/1;CC=c.162+21G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:55:22:0:0:24,1,30:783,12,994:73.65,0.01,0.00:16.40,-0.06,0.00:57.25,0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.0,122.0,4.3:0,0,0:0,0,0:112,44,99:35,107,35:25,0,29:NM_003385.4(VSNL1) c.162+21G>A,-:0.7,-:0.612179,- 2 17830893 . G . . NT END=17836463;NT GT ./. 2 17836662 . G . . NT END=17846765;NT GT ./. 2 17846592 rs2710674 A T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3736,T/0.6264;PC=0.016;Gene=SMC6/NM_001142286.1/1;CC=c.*174T>A;VC=3UTR;Gene=SMC6/NM_024624.5/0;CC=c.*174T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:114:13.30:13.30:0.00:1.00:1.00:0.00:60:62.2:0:0:128:22:16:NM_001142286.1(SMC6) c.*174T>A,NM_001142286.1(SMC6) c.*174T>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 17846881 . C . . NT END=17847686;NT GT ./. 2 17847785 . C . . NT END=17851689;NT GT ./. 2 17851843 . C . . NT END=17860125;NT GT ./. 2 17860232 . C . . NT END=17864904;NT GT ./. 2 17865031 . C . . NT END=17876418;NT GT ./. 2 17876565 . C . . NT END=17877555;NT GT ./. 2 17877694 . C . . NT END=17881474;NT GT ./. 2 17881646 . C . . NT END=17883095;NT GT ./. 2 17883177 . C . . NT END=17884423;NT GT ./. 2 17883451 rs11681810 T C 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6158,C/0.3842;Gene=SMC6/NM_001142286.1/1;CC=c.2143-275A>G;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.2143-275A>G;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:0:0:0:2,2:70,66:6.75,0.00:0.00,0.00:6.75,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:51.5,0.0:0,0:0,0:75,108:75,42:55,34:NM_001142286.1(SMC6) c.2143-275A>G,-:0.4,-:NOT_FOUND,- 2 17884560 . C . . NT END=17888485;NT GT ./. 2 17888457 rs6734462 G A 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5795,A/0.4205;Gene=SMC6/NM_001142286.1/1;CC=c.2006+29C>T;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.2006+29C>T;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:41:0:0:15,29:461,1009:40.97,0.00:37.96,0.00:3.01,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.9,5.2:0,0:0,0:53,72:98,79:31,38:NM_001142286.1(SMC6) c.2006+29C>T,-:0.43,-:0.551138,- 2 17888647 . C . . NT END=17889905;NT GT ./. 2 17890021 . C . . NT END=17896127;NT GT ./. 2 17890091 rs113290670 G GTA 10 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=25;NP=5;NP=96;Gene=SMC6/NM_001142286.1/1;CC=c.1731-72_1731-71insTA;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.1731-72_1731-71insTA;VC=Intron;DM=SMC6/SMC_N;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:G,GTA:12:1:4:0:8,4:267,116:0.00,10.19:0.00,-0.09:0.00,10.28:0.00,0.80:0.00,0.56:0.00,0.80:60,60:0.0,5.2:0,0:0,0:134,73:14,76:12,47:-,NM_001142286.1(SMC6) c.1731-72_1731-71insTA:-,NOT_FOUND:-,NOT_FOUND 2 17895937 rs2344692 C T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6138,T/0.3862;Gene=SMC6/NM_001142286.1/1;CC=c.1730+191G>A;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.1730+191G>A;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,T:9:8:0:0:5,4:172,133:0.00,12.52:0.00,12.78:0.00,-0.26:0.00,0.85:0.00,0.98:0.00,0.63:60,60:32.0,59.0:0,0:0,0:104,58:46,91:7,40:-,NM_001142286.1(SMC6) c.1730+191G>A:-,0.4:-,NOT_FOUND 2 17895975 rs2344691 C T 46 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3752,T/0.6248;Gene=SMC6/NM_001142286.1/1;CC=c.1730+153G>A;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.1730+153G>A;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C,T:14:13:0:0:1,13:8,412:0.00,46.09:0.00,42.45:0.00,3.64:0.00,1.00:0.00,1.00:0.00,0.95:60,60:65.0,44.6:0,0:0,0:135,37:16,114:0,31:NM_001142286.1(SMC6) c.1730+153G>A,NM_001142286.1(SMC6) c.1730+153G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 17896333 . C . . NT END=17897352;NT GT ./. 2 17896390 rs373836490 ATCC A 49 nt VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=123;Gene=SMC6/NM_001142286.1/1;CC=c.1526-61_1526-59delGGA;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.1526-61_1526-59delGGA;VC=Intron;DM=SMC6/SMC_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATCC,C,G,A:41:8:0:17:22,1,1,17:662,11,11,527:0.00,0.03,0.03,49.21:0.00,-0.03,-0.03,2.70:0.00,0.06,0.06,46.52:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:4.3,209.0,168.0,3.9:0,0,0,0:0,0,0,0:112,115,135,72:31,31,-17,77:24,0,0,40:-,NM_001142286.1(SMC6) c.1526-61_1526-59delGGA:-,0.06:-,NOT_FOUND 2 17897532 . C . . NT END=17898007;NT GT ./. 2 17897819 rs16983791 G C 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8574,C/0.1426;PC=0.001;Gene=SMC6/NM_001142286.1/1;CC=c.1346+189C>G;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.1346+189C>G;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C,G:11:9:0:0:1,3,7:12,103,213:0.41,9.07,0.00:0.45,6.00,0.00:-0.04,3.07,0.00:0.00,0.60,0.00:0.00,0.91,0.00:0.00,0.56,0.00:60,60,60:34.0,34.3,8.0:0,0,0:0,0,0:139,86,48:12,64,103:0,14,32:NM_001142286.1(SMC6) c.1346+189C>G,-:0.14,-:NOT_FOUND,- 2 17898125 . AT A 16 rn VT=DEL;SST=Single;DP=76;NP=33;PC=1.000;Gene=SMC6/NM_001142286.1/1;CC=c.1228delA;ProtCh=p.I410Yfs*4;VC=FrameShiftDel;Gene=SMC6/NM_024624.5/0;CC=c.1228delA;ProtCh=p.I410Yfs*4;VC=FrameShiftDel;DM=SMC6/SMC_N;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:AT,T,I,A:76:48:1:7:67,1,1,7:2149,10,34,227:0.00,-0.25,1.62,15.99:0.00,-0.18,0.82,9.43:0.00,-0.07,0.80,6.56:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.97:60,48,60,60:5.6,217.0,0.0,11.6:0,0,0,0:0,0,0,0:61,71,86,68:80,73,55,77:35,0,0,26:-,NM_001142286.1(SMC6) c.1220A[8] (p.Ile410Tyrfs*4):-,NOT_FOUND:-,NOT_FOUND 2 17898173 . C . . NT END=17898354;NT GT ./. 2 17898326 rs12469221 C T 88 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.5797,T/0.4203;Gene=SMC6/NM_001142286.1/1;CC=c.1181+29G>A;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.1181+29G>A;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:32:0:0:21,29:676,891:0.00,88.13:0.00,45.49:0.00,42.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,36.0:0,0:0,0:63,52:88,94:30,33:-,NM_001142286.1(SMC6) c.1181+29G>A:-,0.43:-,0.552016 2 17898444 . C . . NT END=17899343;NT GT ./. 2 17899491 . C . . NT END=17902206;NT GT ./. 2 17899584 rs9679094 T G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6132,G/0.3868;PC=0.014;Gene=SMC6/NM_001142286.1/1;CC=c.946-94A>C;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.946-94A>C;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:4:0:0:14,14:459,457:44.15,0.00:3.32,0.00:40.82,0.00:1.00,0.00:0.51,0.00:1.00,0.00:60,60:39.4,1.7:0,0:0,0:121,107:28,43:18,35:NM_001142286.1(SMC6) c.946-94A>C,-:0.4,-:NOT_FOUND,- 2 17902012 rs17381041 A C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8237,C/0.1763;PC=0.003;Gene=SMC6/NM_001142286.1/1;CC=c.945+195T>G;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.945+195T>G;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,C:5:5:0:0:2,3:62,94:0.00,9.37:0.00,9.37:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:31.5,45.3:0,0:0,0:17,21:134,129:17,6:-,NM_001142286.1(SMC6) c.945+195T>G:-,0.18:-,NOT_FOUND 2 17902306 . C . . NT END=17902408;NT GT ./. 2 17902381 rs11897477 C G 122 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.8698,G/0.1302,T/.;Gene=SMC6/NM_001142286.1/1;CC=c.846+28G>C;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.846+28G>C;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:82:59:0:0:44,38:1380,1285:0.00,122.06:0.00,75.47:0.00,46.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,36.2:0,0:0,0:68,61:83,88:40,35:-,NM_001142286.1(SMC6) c.846+28G>C:-,0.13:-,0.149877 2 17902529 . C . . NT END=17906523;NT GT ./. 2 17906626 . C . . NT END=17907655;NT GT ./. 2 17907513 . A G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;PC=0.703;Gene=SMC6/NM_001142286.1/1;CC=c.624+143T>C;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.624+143T>C;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,G:9:9:0:0:4,5:107,171:0.00,16.82:0.00,16.82:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:7.8,94.6:0,0:0,0:90,39:60,112:27,12:-,NM_001142286.1(SMC6) c.624+143T>C:-,NOT_FOUND:-,NOT_FOUND 2 17907514 . T A 12 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;PC=0.656;Gene=SMC6/NM_001142286.1/1;CC=c.624+142A>T;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.624+142A>T;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,T:9:9:0:0:5,4:122,111:11.89,0.00:11.89,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:94.6,7.8:5,0:0,0:40,91:111,59:12,27:NM_001142286.1(SMC6) c.624+142A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 17907515 . C T 13 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;PC=0.294;Gene=SMC6/NM_001142286.1/1;CC=c.624+141G>A;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.624+141G>A;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:9:9:0:0:4,5:132,129:0.00,12.59:0.00,12.59:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:7.8,94.6:0,5:0,0:92,41:58,110:27,12:-,NM_001142286.1(SMC6) c.624+141G>A:-,NOT_FOUND:-,NOT_FOUND 2 17907518 rs553748283 GGAAATT G 14 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=SMC6/NM_001142286.1/1;CC=c.624+132_624+137delAATTTC;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.624+132_624+137delAATTTC;VC=Intron;DM=SMC6/SMC_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:GGAAATT,G:9:9:0:5:4,5:131,141:0.00,13.80:0.00,13.80:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:7.8,94.6:0,0:0,0:95,44:55,107:27,12:-,NM_001142286.1(SMC6) c.624+132_624+137delAATTTC:-,0.07:-,NOT_FOUND 2 17907737 . C . . NT END=17912344;NT GT ./. 2 17912407 . C . . NT END=17913007;NT GT ./. 2 17913145 . C . . NT END=17919487;NT GT ./. 2 17913266 rs2052746 A C 66 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=2071;Gene=SMC6/NM_001142286.1/1;CC=c.345-122T>G;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.345-122T>G;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:2:0:0:17:574:65.51:5.92:59.59:1.00:1.00:1.00:60:46.1:0:0:74:76:29:NM_001142286.1(SMC6) c.345-122T>G,NM_001142286.1(SMC6) c.345-122T>G:1,1:NOT_FOUND,NOT_FOUND 2 17919594 . C . . NT END=17922878;NT GT ./. 2 17921112 rs57847701 G C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;NP=34;NP=41;PC=0.281;Gene=SMC6/NM_001142286.1/1;CC=c.239-1519C>G;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.239-1519C>G;VC=Intron;DM=SMC6/SMC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:C,G,I:5:4:1:0:2,2,1:66,46,35:6.32,0.00,3.09:1.46,0.00,3.14:4.86,0.00,-0.05:0.46,0.00,0.00:0.87,0.00,0.00:0.80,0.00,0.00:60,60,60:63.5,0.0,0.0:0,0,0:0,0,0:24,131,101:125,17,49:5,6,0:NM_001142286.1(SMC6) c.239-1519C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 17921146 rs60784309 AACACAC A 10 sb;idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.200;Gene=SMC6/NM_001142286.1/1;CC=c.239-1559_239-1554delGTGTGT;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.239-1559_239-1554delGTGTGT;VC=Intron;DM=SMC6/SMC_N;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:AACACAC,A:8:4:0:7:4,4:92,133:0.00,9.99:0.00,1.33:0.00,8.66:0.00,0.85:0.00,0.91:0.00,0.85:60,60:31.8,50.2:1,1:0,0:37,61:64,86:21,5:-,NM_001142286.1(SMC6) c.239-1559_239-1554delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 17922997 . C . . NT END=17927093;NT GT ./. 2 17926925 rs397738429 AT A 18 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=AT/0.8343,A/0.1657;DB;DBA=NA;PAF=AT/0.8343,A/0.1657;NP=394;Gene=SMC6/NM_001142286.1/1;CC=c.120+168delA;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.120+168delA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:AT,A:12:12:0:6:6,6:186,184:0.00,17.65:0.00,17.65:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,7.2:0,0:0,0:51,30:100,119:22,16:-,NM_001142286.1(SMC6) c.120+168delA:-,0.16:-,NOT_FOUND 2 17927219 . C . . NT END=17934244;NT GT ./. 2 17927275 rs12474069 C T 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.5733,T/0.4267;PC=0.111;Gene=SMC6/NM_001142286.1/1;CC=c.-5-57G>A;VC=Intron;Gene=SMC6/NM_024624.5/0;CC=c.-5-57G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:4:0:0:24,11:762,336:0.00,29.38:0.00,3.13:0.00,26.26:0.00,1.00:0.00,0.78:0.00,1.00:60,60:8.7,36.6:0,0:0,0:97,82:53,69:31,24:-,NM_001142286.1(SMC6) c.-5-57G>A:-,0.44:-,NOT_FOUND 2 17934330 . T . . NT END=17941210;NT GT ./. 2 17941372 . G . . NT END=17942662;NT GT ./. 2 17941423 rs2555072 T G 206 nt VT=SNV;PN=G;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.2911,A/.,G/0.7089;Gene=GEN1/NM_182625.3/0;CC=c.161+52T>G;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.161+52T>G;VC=Intron;DM=GEN1/XPG_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G,T:58:16:0:0:56,2:1825,15:206.37,0.00:36.21,0.00:170.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,120.0:0,0:0,0:92,52:57,96:38,15:NM_001130009.1(GEN1) c.161+52T>G,NM_001130009.1(GEN1) c.161+52T>G:0.7,0.7:0.579758,0.579758 2 17942775 rs1812152 T A 168 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.1863,A/0.8137,C/.;PC=0.189;Gene=GEN1/NM_182625.3/0;CC=c.274T>A;ProtCh=p.S92T;VC=Missense;Gene=GEN1/NM_001130009.1/1;CC=c.274T>A;ProtCh=p.S92T;VC=Missense;DM=GEN1/XPG_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A,T:47:38:0:0:46,1:1474,9:167.71,0.00:100.46,0.00:67.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,207.0:0,0:0,0:79,79:69,64:28,0:NM_001130009.1(GEN1) c.274T>A (p.Ser92Thr),NM_001130009.1(GEN1) c.274T>A (p.Ser92Thr):0.79,0.79:0.671229,0.671229 2 17942850 . G . . NT END=17946163;NT GT ./. 2 17943015 rs2615047 T C 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1885,C/0.8115;Gene=GEN1/NM_182625.3/0;CC=c.348+166T>C;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.348+166T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:204:23.69:0.00:23.69:1.00:0.00:1.00:60:35.3:0:0:97:54:15:NM_001130009.1(GEN1) c.348+166T>C,NM_001130009.1(GEN1) c.348+166T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 17946243 rs16981869 A G 112 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.872,G/0.128;PC=1.000;Gene=GEN1/NM_182625.3/0;CC=c.428A>G;ProtCh=p.N143S;VC=Missense;Gene=GEN1/NM_001130009.1/1;CC=c.428A>G;ProtCh=p.N143S;VC=Missense;DM=GEN1/XPG_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:62:0:0:51,37:1635,1202:0.00,111.80:0.00,63.12:0.00,48.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,37.5:0,0:0,0:73,57:71,89:36,29:-,NM_001130009.1(GEN1) c.428A>G (p.Asn143Ser):-,0.13:-,0.145394 2 17946341 . G . . NT END=17947845;NT GT ./. 2 17947886 rs116772931 G A 56 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9906,A/0.009385;PC=0.498;Gene=GEN1/NM_182625.3/0;CC=c.566G>A;ProtCh=p.S189N;VC=Missense;Gene=GEN1/NM_001130009.1/1;CC=c.566G>A;ProtCh=p.S189N;VC=Missense;DM=GEN1/XPG_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:27:0:0:18,19:588,554:56.30,0.00:34.53,0.00:21.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,14.4:0,0:0,0:74,48:68,100:21,38:NM_001130009.1(GEN1) c.566G>A (p.Ser189Asn),-:0.01,-:0.013763,- 2 17947957 . G . . NT END=17950004;NT GT ./. 2 17948034 rs16983838 A G 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8726,G/0.1274;Gene=GEN1/NM_182625.3/0;CC=c.636+78A>G;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.636+78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:1:0:0:6,9:198,311:0.00,31.01:0.00,-0.40:0.00,31.41:0.00,1.00:0.00,0.73:0.00,1.00:60,60:11.5,40.9:0,0:0,0:102,64:48,86:23,41:-,NM_001130009.1(GEN1) c.636+78A>G:-,0.13:-,NOT_FOUND 2 17949933 rs188010937 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9884,A/0.01158;Gene=GEN1/NM_182625.3/0;CC=c.637-72G>A;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.637-72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:17:15:0:0:6,11:177,325:15.76,0.00:13.01,0.00:2.76,0.00:0.95,0.00:1.00,0.00:0.88,0.00:60,60:40.5,11.3:0,0:0,0:44,32:105,115:26,23:NM_001130009.1(GEN1) c.637-72G>A,-:0.01,-:NOT_FOUND,- 2 17949939 rs72407975 TTAA T 15 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TTAA/0.8644,T/0.1356;DB;DBA=NA;PAF=TTAA/0.8644,T/0.1356;NP=566;Gene=GEN1/NM_182625.3/0;CC=c.637-63_637-61delATA;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.637-63_637-61delATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:TTAA,T:18:16:0:6:12,6:381,174:0.00,15.29:0.00,12.91:0.00,2.37:0.00,0.94:0.00,0.99:0.00,0.42:60,60:10.3,40.5:0,0:0,0:39,50:109,99:30,26:-,NM_001130009.1(GEN1) c.637-65_637-63delTAA:-,0.13:-,NOT_FOUND 2 17950079 . G . . NT END=17952462;NT GT ./. 2 17952555 . G . . NT END=17953900;NT GT ./. 2 17953850 rs116651705 A G 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.9794,G/0.02057;Gene=GEN1/NM_182625.3/0;CC=c.803-51A>G;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.803-51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:28:0:0:17,13:526,409:0.00,38.18:0.00,31.87:0.00,6.31:0.00,1.00:0.00,1.00:0.00,0.97:60,60:14.0,46.4:0,0:0,0:52,48:83,102:30,25:-,NM_001130009.1(GEN1) c.803-51A>G:-,0.02:-,0.021602 2 17954027 rs300175 G A 151 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.02296,A/0.977;Gene=GEN1/NM_182625.3/0;CC=c.929G>A;ProtCh=p.S310N;VC=Missense;Gene=GEN1/NM_001130009.1/1;CC=c.929G>A;ProtCh=p.S310N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:18:0:0:42:1315:151.41:43.97:107.43:1.00:1.00:1.00:60:44.8:0:0:79:62:38:NM_001130009.1(GEN1) c.929G>A (p.Ser310Asn),NM_001130009.1(GEN1) c.929G>A (p.Ser310Asn):0.99,0.99:0.983546,0.983546 2 17954052 . G . . NT END=17954362;NT GT ./. 2 17954140 rs300176 A G 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.2286,G/0.7714;Gene=GEN1/NM_182625.3/0;CC=c.953+89A>G;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.953+89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A,G:20:5:0:0:1,19:8,611:0.00,68.77:0.00,17.87:0.00,50.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:89.0,53.1:0,0:0,0:59,109:91,42:0,32:NM_001130009.1(GEN1) c.953+89A>G,NM_001130009.1(GEN1) c.953+89A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 17954400 . G . . NT END=17954485;NT GT ./. 2 17954421 rs300177 C G 171 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.1885,G/0.8115,T/.;Gene=GEN1/NM_182625.3/0;CC=c.990+22C>G;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.990+22C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:31:0:0:46:1488:170.65:86.35:84.30:1.00:1.00:1.00:60:39.0:0:0:88:62:32:NM_001130009.1(GEN1) c.990+22C>G,NM_001130009.1(GEN1) c.990+22C>G:0.78,0.78:0.669819,0.669819 2 17954567 . G . . NT END=17955537;NT GT ./. 2 17954647 rs300178 T G 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2418,G/0.7582;Gene=GEN1/NM_182625.3/0;CC=c.1071+81T>G;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.1071+81T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:4:0:0:18:613:69.88:9.54:60.34:1.00:1.00:1.00:60:37.3:0:0:120:30:16:NM_001130009.1(GEN1) c.1071+81T>G,NM_001130009.1(GEN1) c.1071+81T>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 17955304 rs7556996 G A 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8726,A/0.1274;PC=0.028;Gene=GEN1/NM_182625.3/0;CC=c.1072-234G>A;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.1072-234G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:4:0:0:2,2:67,67:6.45,0.00:6.45,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:65.0,0.0:0,0:0,0:68,70:81,80:33,63:NM_001130009.1(GEN1) c.1072-234G>A,-:0.13,-:NOT_FOUND,- 2 17955669 . G . . NT END=17959268;NT GT ./. 2 17959331 . G . . NT END=17961244;NT GT ./. 2 17959420 rs70964006 TAC T 21 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=537;Gene=GEN1/NM_182625.3/0;CC=c.1264+100_1264+101delCA;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.1264+100_1264+101delCA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:TAC,T:9:0:0:8:2,7:65,194:0.00,20.66:0.00,0.00:0.00,20.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:65.0,18.0:0,0:0,0:72,96:77,55:65,16:-,NM_001130009.1(GEN1) c.1264+91_1264+92delAC:-,NOT_FOUND:-,NOT_FOUND 2 17959473 rs142517754 GTA G 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GTA/0.8564,G/0.1436;NP=184;PC=0.007;Gene=GEN1/NM_182625.3/0;CC=c.1264+151_1264+152delAT;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.1264+151_1264+152delAT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:GTA,G:6:0:0:3:3,3:98,96:0.00,9.22:0.00,0.00:0.00,9.22:0.00,0.73:0.00,0.00:0.00,0.73:60,60:33.0,49.7:1,0:0,0:147,118:4,33:3,6:-,NM_001130009.1(GEN1) c.1264+144_1264+145delTA:-,0.13:-,NOT_FOUND 2 17961050 rs300167 A G 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1885,G/0.8115;Gene=GEN1/NM_182625.3/0;CC=c.1265-195A>G;VC=Intron;Gene=GEN1/NM_001130009.1/1;CC=c.1265-195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:349:39.67:39.67:0.00:1.00:1.00:0.00:60:35.6:0:0:60:90:22:NM_001130009.1(GEN1) c.1265-195A>G,NM_001130009.1(GEN1) c.1265-195A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 17961389 . G . . NT END=17961887;NT GT ./. 2 17962450 rs300168 A G 102 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.4261,G/0.5739;PC=0.989;Gene=GEN1/NM_182625.3/0;CC=c.1971A>G;ProtCh=p.E657=;VC=Silent;Gene=GEN1/NM_001130009.1/1;CC=c.1971A>G;ProtCh=p.E657=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:36:0:0:25,32:852,1034:0.00,101.65:0.00,55.53:0.00,46.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.3,56.5:0,0:0,0:87,69:63,77:28,28:-,NM_001130009.1(GEN1) c.1971A>G (p.(=)):-,0.56:-,0.426111 2 17962518 rs300169 C T 194 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.242,T/0.758;Gene=GEN1/NM_182625.3/0;CC=c.2039C>T;ProtCh=p.T680I;VC=Missense;Gene=GEN1/NM_001130009.1/1;CC=c.2039C>T;ProtCh=p.T680I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C,T:54:27:0:0:1,53:35,1706:0.00,193.62:0.00,81.83:0.00,111.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:79.0,46.6:0,0:0,0:80,86:47,65:0,43:NM_001130009.1(GEN1) c.2039C>T (p.Thr680Ile),NM_001130009.1(GEN1) c.2039C>T (p.Thr680Ile):0.74,0.74:0.618714,0.618714 2 17963207 . A . . NT END=17997785;NT GT ./. 2 17997581 rs1471344 T C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.388,C/0.612;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:C,T:8:8:0:0:4,4:137,107:13.20,0.00:13.20,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:40.2,18.8:0,0:0,0:43,89:107,61:30,40:NM_001105569.1(MSGN1) c.1-u205T>C,-:0.61,-:NOT_FOUND,- 2 17998025 rs34069439 A T 214 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.6781,T/0.3219;PC=0.118;Gene=MSGN1/NM_001105569.1/1;CC=c.240A>T;ProtCh=p.E80D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:153:108:0:0:81,72:2503,2261:0.00,214.44:0.00,115.83:0.00,98.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,56.7:0,0:0,0:72,63:77,80:34,35:-,NM_001105569.1(MSGN1) c.240A>T (p.Glu80Asp):-,0.33:-,0.507972 2 17998095 rs35858730 C T 272 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=171;DB;DBA=NA;PAF=C/0.7041,A/.,T/0.2959;PC=0.012;Gene=MSGN1/NM_001105569.1/1;CC=c.310C>T;ProtCh=p.H104Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:171:113:0:0:1,83,87:11,2685,2817:-0.14,0.00,272.02:-0.02,0.00,139.42:-0.11,0.00,132.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.0,7.2,56.0:0,0,0:0,0,0:16,52,78:135,88,61:0,31,33:-,NM_001105569.1(MSGN1) c.310C>T (p.His104Tyr):-,0.3:-,0.466511 2 17998331 rs13001625 T C 154 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.7055,C/0.2945;PC=0.997;Gene=MSGN1/NM_001105569.1/1;CC=c.546T>C;ProtCh=p.L182=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:101:41:0:0:1,49,51:7,1603,1458:-0.18,153.63,0.00:-0.01,46.96,0.00:-0.16,106.67,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:215.0,41.0,20.9:0,0,0:0,0,0:81,82,91:70,68,56:0,26,39:NM_001105569.1(MSGN1) c.546T>C (p.(=)),-:0.31,-:0.468569,- 2 17998368 . G . . NT END=18112275;NT GT ./. 2 18112473 rs4240213 G A 430 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.05891,A/0.9411;PC=1.000;Gene=KCNS3/NM_001282428.1/0;CC=c.198G>A;ProtCh=p.E66=;VC=Silent;Gene=KCNS3/NM_002252.4/1;CC=c.198G>A;ProtCh=p.E66=;VC=Silent;DM=KCNS3/BTB_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:118:70:0:0:118:3738:429.95:211.36:218.59:1.00:1.00:1.00:60:41.2:0:0:83:65:41:NM_002252.3(KCNS3) c.=,NM_002252.3(KCNS3) c.=:0.95,0.95:0.92811,0.92811 2 18113508 rs3747516 G A 91 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.643,A/0.357;PC=1.000;Gene=KCNS3/NM_001282428.1/0;CC=c.1233G>A;ProtCh=p.K411=;VC=Silent;Gene=KCNS3/NM_002252.4/1;CC=c.1233G>A;ProtCh=p.K411=;VC=Silent;DM=KCNS3/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:84:46:0:0:32,1,51:998,9,1725:91.01,-0.17,0.00:37.10,-0.13,0.00:53.91,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:53.4,119.0,11.6:0,0,0:0,0,0:72,95,85:78,51,51:37,0,37:NM_002252.3(KCNS3) c.1233G>A (p.(=)),-:0.31,-:0.20183,- 2 18113623 rs4832524 A G 299 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.2039,G/0.7961;PC=1.000;Gene=KCNS3/NM_001282428.1/0;CC=c.1348A>G;ProtCh=p.T450A;VC=Missense;Gene=KCNS3/NM_002252.4/1;CC=c.1348A>G;ProtCh=p.T450A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:85:61:0:0:84,1:2596,13:298.68,0.22:162.81,0.22:135.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,73.0:0,0:0,0:81,121:67,30:38,0:NM_002252.3(KCNS3) c.1348A>G (p.Thr450Ala),NM_002252.3(KCNS3) c.1348A>G (p.Thr450Ala):0.76,0.76:0.665847,0.665847 2 18113752 . G . . NT END=18736456;NT GT ./. 2 18144763 rs541603838 GGT G 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GGT/0.6751,G/0.3249;PC=0.979;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GGT,G:5:5:0:3:2,3:67,92:0.00,9.17:0.00,4.39:0.00,4.78:0.00,0.78:0.00,0.78:0.00,0.97:60,60:113.0,53.0:0,0:0,0:51,20:71,64:21,7:-,chr2 g.18144764_18144765delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 18144823 rs59882839 GGT T,G 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.766 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:21:GGT,T,G:7:6:0:4:2,2,3:46,67,93:0.00,6.28,9.15:0.00,3.07,2.85:0.00,3.21,6.30:0.00,0.00,0.69:0.00,0.00,0.95:0.00,0.00,0.95:60,59,58:113.0,67.5,21.3:0,0,0:0,0,0:111,93,56:11,12,95:21,15,35:chr2 g.18144823_18144824delGG (intergenic),chr2 g.18144824_18144825delGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 18397214 rs377447914 CCACACACACACA C 8 sb;idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=5;PC=0.256;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:CCACACACACACA,C:7:7:0:5:4,3:139,150:0.00,7.59:0.00,-0.53:0.00,8.12:0.00,0.64:0.00,0.92:0.00,0.42:60,60:12.0,59.3:0,2:0,0:107,45:33,104:13,12:-,chr2 g.18397215_18397226delCACACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 18397308 rs7584174 G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1615,A/0.8385 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:167:19.08:3.88:15.21:1.00:1.00:1.00:60:42.4:0:0:114:37:13:chr2 g.18397307G>A (intergenic),chr2 g.18397307G>A (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 2 18398959 rs4832562 G C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:209:23.76:11.83:11.93:1.00:1.00:1.00:60:40.5:0:0:110:36:22:chr2 g.18398958G>C (intergenic),chr2 g.18398958G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 18451770 . TAC T,TACAC 7 idl,nt VT=DEL;SST=Single;DP=4;NP=9;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:50:TACAC,T:4:3:2:2:2,2:50,67:5.35,7.05:1.39,5.26:3.96,1.79:0.00,0.51:0.00,0.89:0.00,0.89:60,60:52.5,45.0:0,0:0,0:26,85:122,66:5,6:chr2 g.18451771_18451772delAC (intergenic),chr2 g.18451771_18451772dupAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 18451855 rs1597823 A T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.732,T/0.268;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,T:5:1:0:0:1,4:32,81:0.00,8.82:0.00,1.11:0.00,7.71:0.00,0.96:0.00,0.87:0.00,1.00:60,60:0.0,61.5:0,0:0,0:134,95:17,55:0,18:-,chr2 g.18451854A>T (intergenic):-,0.25:-,NOT_FOUND 2 18451885 rs1597824 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7923,C/0.2077;PC=0.086 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:116:13.50:3.98:9.53:1.00:1.00:1.00:60:61.5:0:0:125:25:18:chr2 g.18451884T>C (intergenic),chr2 g.18451884T>C (intergenic):0.19,0.19:NOT_FOUND,NOT_FOUND 2 18737075 . C . . NT END=18741445;NT GT ./. 2 18741839 . C . . NT END=18745061;NT GT ./. 2 18745386 . C . . NT END=18757449;NT GT ./. 2 18757635 . C . . NT END=18758038;NT GT ./. 2 18758162 . C . . NT END=18764133;NT GT ./. 2 18764264 . C . . NT END=18765353;NT GT ./. 2 18765522 . C . . NT END=18765779;NT GT ./. 2 18766245 . C . . NT END=18767513;NT GT ./. 2 18767384 rs11096544 G T 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.8429,T/0.1571;Gene=NT5C1B-RDH14/NM_001199103.1/0;CC=c.264+130C>A;VC=Intron;Gene=NT5C1B-RDH14/NM_001199104.1/1;CC=c.438+136C>A;VC=Intron;Gene=NT5C1B/NM_001002006.2/1;CC=c.438+136C>A;VC=Intron;Gene=NT5C1B/NM_001199086.1/0;CC=c.387+136C>A;VC=Intron;Gene=NT5C1B/NM_001199087.1/0;CC=c.489+136C>A;VC=Intron;Gene=NT5C1B/NM_001199088.1/0;CC=c.444+130C>A;VC=Intron;Gene=NT5C1B/NM_033253.3/0;CC=c.258+136C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:51:51:0:0:25,26:782,828:0.00,79.85:0.00,80.01:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.67:60,60:19.3,47.5:0,0:0,0:54,62:97,88:33,33:-,NM_001199087.1(NT5C1B) c.489+136C>A:-,0.19:-,NOT_FOUND 2 18767658 . C . . NT END=18768208;NT GT ./. 2 18768156 rs554604985 C T 120 nt VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=0.023;Gene=NT5C1B-RDH14/NM_001199103.1/0;CC=c.121-499G>A;VC=Intron;Gene=NT5C1B-RDH14/NM_001199104.1/1;CC=c.300+104G>A;VC=Intron;Gene=NT5C1B/NM_001002006.2/1;CC=c.300+104G>A;VC=Intron;Gene=NT5C1B/NM_001199086.1/0;CC=c.249+104G>A;VC=Intron;Gene=NT5C1B/NM_001199087.1/0;CC=c.351+53G>A;VC=Intron;Gene=NT5C1B/NM_001199088.1/0;CC=c.300+104G>A;VC=Intron;Gene=NT5C1B/NM_033253.3/0;CC=c.121-499G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:77:0:0:44,38:1306,1266:0.00,120.17:0.00,107.44:0.00,12.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,42.9:0,0:0,0:44,37:107,111:31,28:-,NM_001199087.1(NT5C1B) c.351+53G>A:-,NOT_FOUND:-,NOT_FOUND 2 18768440 . C . . NT END=18768768;NT GT ./. 2 18768859 . C . . NT END=18770704;NT GT ./. 2 18770400 rs534062662 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.020;Gene=NT5C1B-RDH14/NM_001199103.1/0;CC=c.30+305A>G;VC=Intron;Gene=NT5C1B-RDH14/NM_001199104.1/1;CC=c.30+305A>G;VC=Intron;Gene=NT5C1B/NM_001002006.2/1;CC=c.30+305A>G;VC=Intron;Gene=NT5C1B/NM_001199086.1/0;CC=c.30+305A>G;VC=Intron;Gene=NT5C1B/NM_001199087.1/0;CC=c.30+305A>G;VC=Intron;Gene=NT5C1B/NM_001199088.1/0;CC=c.30+305A>G;VC=Intron;Gene=NT5C1B/NM_033253.3/0;CC=c.30+305A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:5:0:0:5:122:14.53:14.53:0.00:1.00:1.00:0.00:60:52.0:0:0:58:93:39:NM_001199087.1(NT5C1B) c.30+305A>G,NM_001199087.1(NT5C1B) c.30+305A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 18770735 . T . . NT END=19552035;NT GT ./. 2 19087891 rs57602808 A ATGTGTGTGTGTG 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6707,ATG/.,ATGTGTGTGTG/.,ATGTGTGTGTGTG/0.3293;DB;DBA=NA;PAF=A/0.6707,ATGTGTGTGTGTG/0.3293;NP=1;NP=10;PC=0.003;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,ATGTGTGTGTGTG:5:3:4:0:1,4:35,131:0.00,13.92:0.00,6.86:0.00,7.06:0.00,0.96:0.00,0.99:0.00,0.97:60,60:0.0,2.8:0,0:0,0:134,68:17,82:0,21:-,chr2 g.19087891_19087892insTGTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19330425 rs34558576 GGTGT G 13 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GGTGT/0.2929,G/0.7071;DB;DBA=NA;PAF=GGTGT/0.2929,G/0.7071;NP=121;PC=0.991;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:GGTGT,G:6:4:0:5:2,4:60,158:0.00,12.60:0.00,2.88:0.00,9.72:0.00,0.90:0.00,0.97:0.00,0.99:60,60:66.5,7.2:0,1:0,0:73,67:27,83:58,21:-,chr2 g.19330426_19330429delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19420587 rs564808797 ACT A 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=ACT/0.07388,A/0.9261;DB;DBA=NA;PAF=ACT/0.07388,A/0.9261;DB;DBA=NA;PAF=ACT/0.07388,A/0.9261;NP=570;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:ACT,A:5:4:0:3:2,3:68,97:0.00,9.67:0.00,2.86:0.00,6.81:0.00,0.78:0.00,0.97:0.00,0.97:60,70:58.5,27.0:1,0:0,0:57,78:79,70:6,39:-,chr2 g.19420588_19420589delCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19420594 rs1658298 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=202 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G:4:3:0:1:1,3:36,104:0.00,10.85:0.00,7.60:0.00,3.25:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,62.3:1,2:0,0:83,70:68,65:0,17:-,chr2 g.19420593C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19486049 . AAC A 6 rn VT=DEL;SST=Single;DP=4;NP=4;PC=0.021;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AAC,A:4:4:0:2:2,2:68,67:0.00,6.45:0.00,4.96:0.00,1.49:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,0.0:0,0:0,0:29,51:70,99:7,38:-,chr2 g.19486050_19486051delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19486081 rs1658244 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7606,CACACACACAT/.,CACACAT/.,CACAT/0.2394,CAT/.;DB;DBA=NA;PAF=NA;NP=13;NP=2;NP=5;NP=63;NP=83 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,T,I:6:6:2:0:2,3,1:70,92,67:0.00,9.04,2.80:0.00,5.85,-0.15:0.00,3.19,2.95:0.00,0.69,0.00:0.00,0.95,0.00:0.00,0.89,0.00:60,60,60:5.0,60.3,0.0:0,0,1:0,0,0:52,25,61:98,126,38:9,8,7:-,chr2 g.19486080C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19486169 rs1658243 A G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.363,G/0.637 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:5:3:0:0:2,3:61,78:0.00,7.74:0.00,4.58:0.00,3.16:0.00,0.78:0.00,0.94:0.00,0.87:60,60:5.0,60.3:0,0:0,0:140,113:10,38:9,8:-,chr2 g.19486168A>G (intergenic):-,0.6:-,NOT_FOUND 2 19529926 rs71402663 G GCA 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;NP=53;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GCA:4:4:3:0:1,3:36,102:0.00,10.65:0.00,5.33:0.00,5.33:0.00,0.85:0.00,0.85:0.00,0.85:60,60:24.0,3.0:0,0:0,0:104,38:45,46:0,23:-,chr2 g.19529926_19529927insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19552172 . C . . NT END=19552901;NT GT ./. 2 19552389 rs851066 T C 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1022,C/0.8978;Gene=OSR1/NM_145260.2/1;CC=c.666-218A>G;VC=Intron;DM=OSR1/zf-C2H2_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C:10:0:0:0:10:264:30.98:0.00:30.98:1.00:0.00:1.00:60:41.1:0:0:102:49:33:NM_145260.2(OSR1) c.666-218A>G,NM_145260.2(OSR1) c.666-218A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 2 19552913 rs12329305 C T 164 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.9052,A/.,T/0.09485;PC=0.042;Gene=OSR1/NM_145260.2/1;CC=c.654G>A;ProtCh=p.L218=;VC=Silent;DM=OSR1/zf-C2H2_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:92:78:0:0:38,54:1278,1649:0.00,163.51:0.00,103.98:0.00,59.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,39.5:0,0:0,0:35,58:100,90:25,24:-,NM_145260.2(OSR1) c.654G>A (p.(=)):-,0.07:-,0.121021 2 19553567 . T . . NT END=20096747;NT GT ./. 2 19799212 . G GTGTGTGT 11 nt VT=INS;SST=Single;DP=4;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GTGTGTGT:3:3:4:1:3:128:10.76:7.00:3.75:0.85:0.99:0.83:60:10.3:1:0:73:77:19:chr2 g.19799212_19799213insTGTGTGT (intergenic),chr2 g.19799212_19799213insTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 19799214 rs73918273 T TG 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=40;PC=0.001;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TG:5:4:3:0:2,3:67,94:0.00,9.37:0.00,5.91:0.00,3.46:0.00,0.78:0.00,0.97:0.00,0.87:60,60:0.0,10.3:2,0:0,0:102,65:25,85:3,6:-,chr2 g.19799214_19799215insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19821768 rs75416087 A ACACC 19 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8668,C/0.1332;PC=0.146;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C,ACACC:8:4:6:0:1,1,6:35,30,173:0.00,2.52,18.80:0.00,-0.06,7.12:0.00,2.58,11.68:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,60,70:24.0,30.0,17.7:0,0,0:0,0,0:129,15,67:5,136,66:0,0,31:-,chr2 g.19821768_19821769insCACC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 19942014 . GCACACACA G 12 nt VT=DEL;SST=Single;DP=4;NP=13;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:3:0:4:4:97:11.55:6.40:5.15:1.00:1.00:1.00:69:38.5:0:0:59:70:24:chr2 g.19942015_19942022delCACACACA (intergenic),chr2 g.19942015_19942022delCACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 19985093 rs146304010 AACACACAC A 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=176;PC=0.005;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AACACACAC,A:4:4:0:2:2,2:67,67:0.00,6.45:0.00,6.75:0.00,-0.30:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,14.5:0,0:0,0:137,66:13,84:3,34:-,chr2 g.19985094_19985101delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 20096888 . C . . NT END=20097629;NT GT ./. 2 20097797 . C . . NT END=20101466;NT GT ./. 2 20101222 rs397869866 GA G 41 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GA/0.07169,G/0.9283;DB;DBA=NA;PAF=GA/0.07169,G/0.9283;NP=51;PC=0.001;Gene=TTC32/NM_001008237.1/1;CC=c.149+244delT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:12:12:352:40.91:40.91:0.00:1.00:1.00:0.00:70:13.8:0:0:33:118:17:NM_001008237.1(TTC32) c.149+244delT,NM_001008237.1(TTC32) c.149+244delT:0.92,0.92:NOT_FOUND,NOT_FOUND 2 20101363 rs7584726 G A 56 nt VT=SNV;PN=T;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.4914,A/0.5086;Gene=TTC32/NM_001008237.1/1;CC=c.149+104C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:50:0:0:20,34:622,1111:56.27,0.00:51.33,0.00:4.94,0.00:1.00,0.00:1.00,0.00:0.98,0.00:70,60:34.9,15.7:0,0:0,0:36,33:115,116:24,18:NM_001008237.1(TTC32) c.149+104C>T,-:0.49,-:NOT_FOUND,- 2 20101616 . A . . NT END=20113318;NT GT ./. 2 20101878 rs1370585 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8145,T/0.1855 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,T:13:0:0:0:10,3:276,105:0.00,8.88:0.00,0.00:0.00,8.88:0.00,0.58:0.00,0.00:0.00,0.58:60,60:27.5,35.0:0,0:0,0:86,92:65,59:35,13:-,NM_001008237.1(TTC32) c.-132-u131G>A:-,0.21:-,NOT_FOUND 2 20113470 . C . . NT END=20113797;NT GT ./. 2 20114039 . C . . NT END=20130156;NT GT ./. 2 20130314 . C . . NT END=20131029;NT GT ./. 2 20131079 rs1191778 T C 115 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.7676,C/0.2324;PC=0.992;Gene=WDR35/NM_001006657.1/1;CC=c.2948A>G;ProtCh=p.E983G;VC=Missense;Gene=WDR35/NM_020779.3/0;CC=c.2915A>G;ProtCh=p.E972G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:47:0:0:36,33:1185,1068:114.90,0.00:63.40,0.00:51.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,12.9:0,0:0,0:78,92:66,56:24,31:NM_001006657.1(WDR35) c.2948A>G (p.Glu983Gly),-:0.28,-:0.320775,- 2 20131171 . C . . NT END=20132043;NT GT ./. 2 20131184 rs1191779 C A 209 nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.03514,A/0.9649;PC=0.021;Gene=WDR35/NM_001006657.1/1;CC=c.2857-14G>T;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.2824-14G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:A:56:23:0:0:56:1827:209.40:59.18:150.22:1.00:1.00:1.00:60:41.4:0:0:87:61:32:NM_001006657.1(WDR35) c.2857-14G>T,NM_001006657.1(WDR35) c.2857-14G>T:0.98,0.98:0.964549,0.964549 2 20131987 rs4294960 T C 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.7706,C/0.2294;Gene=WDR35/NM_001006657.1/1;CC=c.2856+57A>G;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.2823+57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:38:0:0:19,23:643,729:60.83,0.00:48.71,0.00:12.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,17.7:0,0:0,0:49,38:101,106:24,22:NM_001006657.1(WDR35) c.2856+57A>G,-:0.25,-:NOT_FOUND,- 2 20132209 . C . . NT END=20133161;NT GT ./. 2 20133273 . C . . NT END=20135231;NT GT ./. 2 20133473 rs11688680 G C 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7712,C/0.2288;Gene=WDR35/NM_001006657.1/1;CC=c.2581-201C>G;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.2548-201C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,G:8:0:0:0:4,4:117,141:11.19,0.00:0.00,0.00:11.19,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:43.0,2.8:0,0:0,0:88,120:62,30:11,20:NM_001006657.1(WDR35) c.2581-201C>G,-:0.25,-:NOT_FOUND,- 2 20135283 rs6741091 T C 70 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.4892,C/0.5108,G/.;Gene=WDR35/NM_001006657.1/1;CC=c.2529A>G;ProtCh=p.E843=;VC=Silent;Gene=WDR35/NM_020779.3/0;CC=c.2496A>G;ProtCh=p.E832=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:53:39:0:0:22,1,30:746,13,1004:69.71,0.06,0.00:36.88,0.19,0.00:32.83,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.4,33.0,2.1:0,0,0:0,0,0:61,111,74:88,40,68:19,0,26:NM_001006657.1(WDR35) c.2529A>G (p.(=)),-:0.5,-:0.429725,- 2 20135365 . C . . NT END=20135979;NT GT ./. 2 20135550 rs12995324 A T 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8758,T/0.1242;Gene=WDR35/NM_001006657.1/1;CC=c.2448-186T>A;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.2415-186T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:19:1:0:0:12,7:356,221:0.00,20.01:0.00,3.44:0.00,16.57:0.00,0.98:0.00,0.58:0.00,1.00:60,60:8.5,35.6:0,0:0,0:110,98:39,52:25,5:-,NM_001006657.1(WDR35) c.2448-186T>A:-,0.13:-,NOT_FOUND 2 20136127 . C . . NT END=20137503;NT GT ./. 2 20137708 . C . . NT END=20138025;NT GT ./. 2 20138163 . C . . NT END=20141519;NT GT ./. 2 20141601 . C . . NT END=20145546;NT GT ./. 2 20145758 . C . . NT END=20146221;NT GT ./. 2 20146332 . C . . NT END=20147924;NT GT ./. 2 20147979 . C . . NT END=20151175;NT GT ./. 2 20151246 . C . . NT END=20153594;NT GT ./. 2 20153740 . C . . NT END=20160314;NT GT ./. 2 20160250 rs12996974 G C 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.771,C/0.229;Gene=WDR35/NM_001006657.1/1;CC=c.1288+65C>G;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.1255+65C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:15:13:0:0:6,9:203,275:18.79,0.00:15.67,0.00:3.12,0.00:0.96,0.00:1.00,0.00:0.46,0.00:60,60:35.2,4.6:0,0:0,0:55,45:96,105:29,29:NM_001006657.1(WDR35) c.1288+65C>G,-:0.25,-:0.250773,- 2 20160376 . C . . NT END=20162055;NT GT ./. 2 20162089 . C . . NT END=20166484;NT GT ./. 2 20166278 rs7572536 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.49,G/0.51;PC=0.018;Gene=WDR35/NM_001006657.1/1;CC=c.1194+207T>C;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.1194+207T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:10:10:0:0:3,7:79,221:0.00,22.82:0.00,22.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:39.3,31.6:0,0:0,0:59,38:67,113:24,4:-,NM_001006657.1(WDR35) c.1194+207T>C:-,0.49:-,NOT_FOUND 2 20166671 . C . . NT END=20169240;NT GT ./. 2 20169132 rs13005512 T A 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8732,A/0.1268;PC=0.005;Gene=WDR35/NM_001006657.1/1;CC=c.1008+109A>T;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.1008+109A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:25:0:0:12,14:407,444:38.64,0.00:33.73,0.00:4.91,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:39.2,6.3:0,0:0,0:33,48:117,102:14,36:NM_001006657.1(WDR35) c.1008+109A>T,-:0.13,-:NOT_FOUND,- 2 20169367 . C . . NT END=20173323;NT GT ./. 2 20169509 rs61079224 AT A 8 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=5;PC=0.971;Gene=WDR35/NM_001006657.1/1;CC=c.883-144delA;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.883-144delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:AT,I,A:18:0:1:4:14,1,3:364,25,133:0.00,1.38,7.90:0.00,0.00,0.00:0.00,1.38,7.90:0.00,0.00,0.51:0.00,0.00,0.00:0.00,0.00,0.51:60,60,70:14.2,58.0,11.3:0,0,1:0,0,0:116,56,85:24,94,65:26,0,29:-,NM_001006657.1(WDR35) c.883-144delA:-,NOT_FOUND:-,NOT_FOUND 2 20173255 rs10153717 A C 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.2686,C/0.7314;Gene=WDR35/NM_001006657.1/1;CC=c.882+69T>G;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.882+69T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:52:51:0:0:32,20:967,671:0.00,61.63:0.00,45.40:0.00,16.24:0.00,1.00:0.00,1.00:0.00,0.91:60,60:6.0,38.9:0,0:0,0:31,26:120,106:19,20:-,NM_001006657.1(WDR35) c.882+69T>G:-,0.7:-,NOT_FOUND 2 20173470 . C . . NT END=20174228;NT GT ./. 2 20174035 rs34425205 G C 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.771,C/0.229;PC=0.002;Gene=WDR35/NM_001006657.1/1;CC=c.736+194C>G;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.736+194C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,G:10:10:0:0:4,6:132,207:12.19,0.00:12.30,0.00:-0.11,0.00:0.84,0.00:0.84,0.00:0.60,0.00:60,60:33.0,2.8:0,0:0,0:8,30:141,110:4,15:NM_001006657.1(WDR35) c.736+194C>G,-:0.25,-:NOT_FOUND,- 2 20174175 rs60345222 G GA 9 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=1;PC=0.142;Gene=WDR35/NM_001006657.1/1;CC=c.736+53_736+54insT;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.736+53_736+54insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:G,GA,D:45:44:5:4:37,4,4:1204,161,128:0.00,9.01,9.01:0.00,7.92,7.87:0.00,1.09,1.14:0.00,0.00,0.57:0.00,0.00,0.93:0.00,0.00,0.56:60,60,60:15.4,3.0,7.0:0,1,0:0,0,0:32,52,46:118,99,99:26,34,42:-,NM_001006657.1(WDR35) c.736+53_736+54insT:-,NOT_FOUND:-,NOT_FOUND 2 20174395 . C . . NT END=20175290;NT GT ./. 2 20175425 . C . . NT END=20178511;NT GT ./. 2 20178641 . C . . NT END=20180451;NT GT ./. 2 20180545 . C . . NT END=20182223;NT GT ./. 2 20181935 rs1191820 G T 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.03435,T/0.9657;PC=0.002;Gene=WDR35/NM_001006657.1/1;CC=c.214+289C>A;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.214+289C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:219:26.13:26.13:0.00:1.00:1.00:0.00:60:40.9:0:0:77:72:52:NM_001006657.1(WDR35) c.214+289C>A,NM_001006657.1(WDR35) c.214+289C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 20182296 . C . . NT END=20188925;NT GT ./. 2 20188765 rs13035048 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7772,T/0.2228;PC=0.001;Gene=WDR35/NM_001006657.1/1;CC=c.142+161G>A;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.142+161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,T:11:11:0:0:5,6:170,179:0.00,17.45:0.00,17.45:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:3.0,29.8:0,0:0,0:63,43:87,107:52,20:-,NM_001006657.1(WDR35) c.142+161G>A:-,0.25:-,NOT_FOUND 2 20189044 . C . . NT END=20189752;NT GT ./. 2 20189089 rs3731663 C T 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.3784,T/0.6216;Gene=WDR35/NM_001006657.1/1;CC=c.25-46G>A;VC=Intron;Gene=WDR35/NM_020779.3/0;CC=c.25-46G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:16:0:0:22,25:690,758:0.00,73.58:0.00,19.96:0.00,53.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,46.7:0,0:0,0:115,111:33,40:23,24:-,NM_001006657.1(WDR35) c.25-46G>A:-,0.6:-,0.568122 2 20189777 . C . . NT END=20192871;NT GT ./. 2 20192696 rs7569975 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4908,A/0.5092;PC=0.037;Gene=LOC101928222/NR_110235.1/0;VC=NonCoding;Gene=MATN3/NM_002381.4/1;CC=c.*176C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,G:5:5:0:0:3,2:98,48:9.78,0.00:9.78,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:32.7,21.0:0,0:0,0:24,109:127,40:12,17:NM_002381.4(MATN3) c.*176C>T,-:0.49,-:NOT_FOUND,- 2 20192928 . G . . NT END=20194059;NT GT ./. 2 20192931 rs35973216 G A 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.7722,A/0.2278;PC=0.111;Gene=LOC101928222/NR_110235.1/0;VC=NonCoding;Gene=MATN3/NM_002381.4/1;CC=c.1406-4C>T;VC=Intron;DM=MATN3/Matrilin_ccoil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:18:0:0:15,17:463,549:43.85,0.00:13.33,0.00:30.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,15.8:0,0:0,0:110,80:41,70:14,26:NM_002381.4(MATN3) c.1406-4C>T,-:0.25,-:0.246954,- 2 20194036 rs3820949 G C 61 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4906,C/0.5094;PC=0.948;Gene=LOC101928222/NR_110235.1/0;VC=NonCoding;Gene=MATN3/NM_002381.4/1;CC=c.1405+24C>G;VC=Intron;DM=MATN3/Matrilin_ccoil GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:35:0:0:18,19:638,611:61.26,0.00:54.65,0.00:6.61,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.2,6.0:0,0:0,0:44,33:106,118:20,20:NM_002381.4(MATN3) c.1405+24C>G,-:0.49,-:0.420462,- 2 20194171 . C . . NT END=20196894;NT GT ./. 2 20197021 . C . . NT END=20200201;NT GT ./. 2 20200328 . C . . NT END=20201715;NT GT ./. 2 20201842 . C . . NT END=20202921;NT GT ./. 2 20201952 rs5829720 C CACACACACACAG 13 idl,nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=34;NP=4;Gene=LOC101928222/NR_110235.1/0;VC=NonCoding;Gene=MATN3/NM_002381.4/1;CC=c.917-112_917-111insCTGTGTGTGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,CACACACACACAG:21:12:8:0:16,5:506,253:0.00,13.06:0.00,6.73:0.00,6.33:0.00,0.83:0.00,0.90:0.00,0.96:60,70:13.2,16.8:0,3:0,0:127,70:18,79:14,37:-,NM_002381.4(MATN3) c.917-112_917-111insCTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 20202811 rs11681705 A G 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8736,G/0.1264;PC=0.003;Gene=LOC101928222/NR_110235.1/0;VC=NonCoding;Gene=MATN3/NM_002381.4/1;CC=c.916+111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:9,9:268,290:0.00,27.88:0.00,28.03:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.67:60,60:15.8,79.3:0,0:0,0:38,30:113,121:24,27:-,NM_002381.4(MATN3) c.916+111T>C:-,0.14:-,NOT_FOUND 2 20202929 rs28452699 C T 84 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.854,T/0.146;Gene=LOC101928222/NR_110235.1/0;VC=NonCoding;Gene=MATN3/NM_002381.4/1;CC=c.909G>A;ProtCh=p.T303=;VC=Silent;DM=MATN3/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:53:0:0:35,27:1141,891:0.00,83.55:0.00,59.91:0.00,23.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,46.1:0,0:0,0:35,49:111,102:19,28:-,NM_002381.4(MATN3) c.909G>A (p.(=)):-,0.15:-,0.191407 2 20203048 . C . . NT END=20205504;NT GT ./. 2 20205197 rs3731667 C A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8616,A/0.1384;Gene=MATN3/NM_002381.4/1;CC=c.790+308G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,C:4:4:0:0:2,2:69,59:6.65,0.00:6.65,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:51.5,11.5:0,0:0,0:38,43:111,107:11,28:NM_002381.4(MATN3) c.790+308G>T,-:0.13,-:NOT_FOUND,- 2 20205423 rs78069341 A AAAAG 24 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.4299,AAAAG/0.5701;DB;DBA=NA;PAF=NA;NP=285;PC=0.004;Gene=MATN3/NM_002381.4/1;CC=c.790+81_790+82insCTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AAAAG:25:24:8:0:15,2,8:447,60,265:0.00,4.22,23.86:0.00,4.29,22.60:0.00,-0.07,1.26:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.79:60,60,60:9.7,30.0,3.0:0,0,0:0,0,0:30,2,69:120,148,79:21,1,25:-,NM_002381.4(MATN3) c.790+81_790+82insCTTT:-,NOT_FOUND:-,NOT_FOUND 2 20205680 rs28401180 C T 234 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.4756,T/0.5244;PC=0.180;Gene=MATN3/NM_002381.4/1;CC=c.615G>A;ProtCh=p.E205=;VC=Silent;DM=MATN3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:146:97:0:0:73,73:2361,2431:0.00,233.97:0.00,114.40:0.00,119.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,40.7:0,0:0,0:78,69:68,77:47,34:-,NM_002381.4(MATN3) c.615G>A (p.(=)):-,0.51:-,0.429966 2 20205848 rs28598872 G A 267 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=G/0.4752,A/0.5248;Gene=MATN3/NM_002381.4/1;CC=c.447C>T;ProtCh=p.A149=;VC=Silent;DM=MATN3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:173:114:0:0:84,89:2789,2738:266.92,0.00:168.10,0.00:98.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,5.7:0,0:0,0:75,59:73,88:30,37:NM_002381.4(MATN3) c.447C>T (p.(=)),-:0.51,-:0.436879,- 2 20206072 . C . . NT END=20212169;NT GT ./. 2 20212393 . G . . NT END=20232964;NT GT ./. 2 20212474 rs8176066 G GGCCCCGCCCC 54 nt VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.256,GGCCCC/.,GGCCCCGCCCC/0.7212,GGCCCCGCCCT/0.02276;DB;DBA=NA;PAF=G/0.256,GGCCCCGCCCC/0.7212;PC=0.531;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GGCCCCGCCCC:40:13:21:0:18,1,21:551,12,562:0.00,0.12,54.49:0.00,-0.05,8.25:0.00,0.17,46.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:20.8,12.0,16.3:0,0,0:0,0,0:132,144,72:16,7,78:11,0,12:-,NM_002381.4(MATN3) c.-63-u20_-63-u19insGGGGCGGGGC:-,NOT_FOUND:-,NOT_FOUND 2 20212647 rs62109424 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.484,G/0.516;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:141:16.01:0.00:16.01:1.00:0.00:1.00:60:35.2:0:0:126:25:7:NM_002381.4(MATN3) c.-63-u192T>C,NM_002381.4(MATN3) c.-63-u192T>C:0.48,0.48:NOT_FOUND,NOT_FOUND 2 20233041 . C . . NT END=20234076;NT GT ./. 2 20233135 rs1191824 T C 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6276,C/0.3724;Gene=LAPTM4A/NM_014713.4/1;CC=c.628-95A>G;VC=Intron;DM=LAPTM4A/Mtp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:1:0:0:10,6:270,197:27.12,0.00:-0.43,0.00:27.55,0.00:1.00,0.00:0.75,0.00:1.00,0.00:60,60:39.0,3.3:0,0:0,0:100,123:50,28:39,17:NM_014713.4(LAPTM4A) c.628-95A>G,-:0.45,-:NOT_FOUND,- 2 20234177 . C . . NT END=20234726;NT GT ./. 2 20234523 rs1147114 C T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.06869,T/0.9313;Gene=LAPTM4A/NM_014713.4/1;CC=c.528+205G>A;VC=Intron;DM=LAPTM4A/Mtp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:6:0:0:7:222:25.54:20.12:5.42:1.00:1.00:1.00:60:33.3:0:0:72:79:53:NM_014713.4(LAPTM4A) c.528+205G>A,NM_014713.4(LAPTM4A) c.528+205G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 20234824 . C . . NT END=20237075;NT GT ./. 2 20237200 . C . . NT END=20237297;NT GT ./. 2 20237376 . C . . NT END=20240650;NT GT ./. 2 20237512 rs57679180 TA T 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.5785,T/0.4215;DB;DBA=NA;PAF=TA/0.5785,T/0.4215;NP=5;PC=0.001;Gene=LAPTM4A/NM_014713.4/1;CC=c.233-138delT;VC=Intron;DM=LAPTM4A/Mtp;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TA,T:6:0:0:4:3,3:63,129:0.00,9.32:0.00,0.00:0.00,9.32:0.00,0.69:0.00,0.00:0.00,0.69:60,60:53.7,14.3:0,1:0,0:81,104:70,47:11,21:-,NM_014713.4(LAPTM4A) c.233-138delT:-,NOT_FOUND:-,NOT_FOUND 2 20240668 rs3731673 C A 54 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.8311,A/0.1689,T/.;PC=0.035;Gene=LAPTM4A/NM_014713.4/1;CC=c.216G>T;ProtCh=p.S72=;VC=Silent;DM=LAPTM4A/Mtp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:42:33:0:0:18,24:574,765:53.51,0.00:40.55,0.00:12.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,3.1:0,0:0,0:66,57:84,80:22,39:NM_014713.4(LAPTM4A) c.216G>T (p.(=)),-:0.17,-:0.139935,- 2 20240773 . C . . NT END=20251169;NT GT ./. 2 20251282 . C . . NT END=20402526;NT GT ./. 2 20329452 rs200731250 ATG A 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=18;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:2:0:4:3:134:11.06:3.65:7.40:0.85:0.95:0.85:60:13.7:1:0:40:109:24:chr2 g.20329453_20329454delTG (intergenic),chr2 g.20329453_20329454delTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 20402380 rs1131351 C G 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.623,G/0.377;Gene=SDC1/NM_002997.4/0;CC=c.*147G>C;VC=3UTR;Gene=SDC1/NM_001006946.1/1;CC=c.*147G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:23:0:0:23:755:86.42:86.42:0.00:1.00:1.00:0.00:60:45.7:0:0:52:98:28:NM_001006946.1(SDC1) c.*147G>C,NM_001006946.1(SDC1) c.*147G>C:0.37,0.37:NOT_FOUND,NOT_FOUND 2 20402697 . C . . NT END=20402847;NT GT ./. 2 20402984 . C . . NT END=20403573;NT GT ./. 2 20403794 rs10205485 A T 403 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.03315,T/0.9669;Gene=SDC1/NM_002997.4/0;CC=c.407T>A;ProtCh=p.L136Q;VC=Missense;Gene=SDC1/NM_001006946.1/1;CC=c.407T>A;ProtCh=p.L136Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:112:66:0:0:1,1,110:5,5,3519:0.02,0.02,403.23:0.00,0.02,187.97:0.02,0.00,215.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:106.0,84.0,44.7:0,0,0:0,0,0:89,71,81:42,80,63:0,0,33:NM_001006946.1(SDC1) c.=,NM_001006946.1(SDC1) c.=:0.97,0.97:0.964549,0.964549 2 20403949 rs2230924 C T 196 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.8261,G/.,T/0.1739;Gene=SDC1/NM_002997.4/0;CC=c.252G>A;ProtCh=p.E84=;VC=Silent;Gene=SDC1/NM_001006946.1/1;CC=c.252G>A;ProtCh=p.E84=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:114:65:0:0:1,51,1,61:9,1630,10,2003:-0.13,0.00,-0.11,195.81:-0.08,0.00,-0.08,78.44:-0.05,0.00,-0.03,117.37:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:40.0,11.8,94.0,41.1:0,0,0,0:0,0,0,0:119,79,118,100:31,69,33,50:0,44,0,35:-,NM_001006946.1(SDC1) c.252G>A (p.(=)):-,0.2:-,0.234697 2 20404053 . C . . NT END=20405103;NT GT ./. 2 20404903 rs6714433 G A 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4651,A/0.5349;Gene=SDC1/NM_002997.4/0;CC=c.148+201C>T;VC=Intron;Gene=SDC1/NM_001006946.1/1;CC=c.148+201C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,G:10:10:0:0:8,2:254,61:27.04,0.00:27.04,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.1,13.0:0,0:0,0:53,48:96,102:11,21:NM_001006946.1(SDC1) c.148+201C>T,-:0.53,-:NOT_FOUND,- 2 20405004 rs3732166 C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6993,T/0.3007;Gene=SDC1/NM_002997.4/0;CC=c.148+100G>A;VC=Intron;Gene=SDC1/NM_001006946.1/1;CC=c.148+100G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,T:13:13:0:0:6,7:181,206:0.00,20.03:0.00,20.20:0.00,-0.17:0.00,0.99:0.00,0.99:0.00,0.69:60,60:39.5,72.0:0,0:0,0:32,51:116,100:17,39:-,NM_001006946.1(SDC1) c.148+100G>A:-,0.32:-,NOT_FOUND 2 20405050 rs6531225 A C 116 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.01498,C/0.985;Gene=SDC1/NM_002997.4/0;CC=c.148+54T>G;VC=Intron;Gene=SDC1/NM_001006946.1/1;CC=c.148+54T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:26:0:0:32:1006:115.83:75.08:40.74:1.00:1.00:1.00:60:43.3:0:0:29:115:19:NM_001006946.1(SDC1) c.148+54T>G,NM_001006946.1(SDC1) c.148+54T>G:0.98,0.98:0.985764,0.985764 2 20405186 . C . . NT END=20407139;NT GT ./. 2 20406917 rs3771253 C T 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7817,T/0.2183;Gene=SDC1/NM_002997.4/0;CC=c.67-1732G>A;VC=Intron;Gene=SDC1/NM_001006946.1/1;CC=c.67-1732G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T:7:7:0:0:2,5:23,169:0.00,17.52:0.00,17.52:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:45.0,39.2:0,0:0,0:87,27:62,122:17,20:-,NM_001006946.1(SDC1) c.67-1732G>A:-,0.23:-,NOT_FOUND 2 20407191 . T . . NT END=20407687;NT GT ./. 2 20407893 . A . . NT END=20423017;NT GT ./. 2 20423041 . T . . NT END=20424562;NT GT ./. 2 20423154 rs4666375 A G 116 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.001597,G/0.9984;NP=142;Gene=SDC1/NM_002997.4/0;CC=c.66+1409T>C;VC=Intron;Gene=SDC1/NM_001006946.1/1;CC=c.66+1409T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:7:0:0:33:1004:116.05:16.64:99.41:1.00:1.00:1.00:60:46.0:0:0:112:36:17:NM_001006946.1(SDC1) c.66+1409T>C,NM_001006946.1(SDC1) c.66+1409T>C:1,1:NOT_FOUND,NOT_FOUND 2 20424629 . G . . NT END=20451345;NT GT ./. 2 20439626 rs2072464 G A 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7644,A/0.2356 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:20:0:0:13,10:395,297:38.85,0.00:32.77,0.00:6.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,15.6:0,0:0,0:27,29:124,120:27,24:chr2 g.20439625G>A (intergenic),-:0.26,-:NOT_FOUND,- 2 20440860 rs7595266 C T 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.7322,T/0.2678;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:12:0:0:19,19:592,597:0.00,57.29:0.00,9.04:0.00,48.24:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.7,38.8:0,0:0,0:107,106:42,45:23,21:-,chr2 g.20440859C>T (intergenic):-,0.28:-,NOT_FOUND 2 20451478 . C . . NT END=20453582;NT GT ./. 2 20453776 . C . . NT END=20454623;NT GT ./. 2 20454431 rs11686919 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5883,G/0.4117;Gene=PUM2/NM_001282790.1/0;CC=c.2633+193T>C;VC=Intron;Gene=PUM2/NM_001282791.1/0;CC=c.2465+193T>C;VC=Intron;Gene=PUM2/NM_001282752.1/0;CC=c.2702+193T>C;VC=Intron;Gene=PUM2/NM_015317.2/1;CC=c.2870+193T>C;VC=Intron;DM=PUM2/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:9:9:0:0:4,5:127,130:0.00,12.65:0.00,12.65:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:13.5,39.6:0,0:0,0:42,71:108,80:24,12:-,NM_015317.1(PUM2) c.2870+193T>C:-,0.41:-,NOT_FOUND 2 20454746 . C . . NT END=20454976;NT GT ./. 2 20455103 . C . . NT END=20455793;NT GT ./. 2 20455176 rs66951840 GT G 8 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GT/0.5793,G/0.4207;DB;DBA=NA;PAF=GT/0.5793,G/0.4207;NP=212;PC=0.260;Gene=PUM2/NM_001282790.1/0;CC=c.2386-75delA;VC=Intron;Gene=PUM2/NM_001282791.1/0;CC=c.2218-75delA;VC=Intron;Gene=PUM2/NM_001282752.1/0;CC=c.2455-75delA;VC=Intron;Gene=PUM2/NM_015317.2/1;CC=c.2623-75delA;VC=Intron;DM=PUM2/PUF;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:GT,G:15:7:0:5:12,3:408,130:0.00,7.87:0.00,0.97:0.00,6.90:0.00,0.54:0.00,0.73:0.00,0.88:60,60:15.9,15.3:0,1:0,0:105,71:42,79:20,28:-,NM_015317.1(PUM2) c.2623-75delA:-,NOT_FOUND:-,NOT_FOUND 2 20455932 . C . . NT END=20457997;NT GT ./. 2 20458133 . C . . NT END=20460097;NT GT ./. 2 20460228 . C . . NT END=20462953;NT GT ./. 2 20462852 rs3796066 G C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7636,C/0.2364;PC=0.003;Gene=PUM2/NM_001282790.1/0;CC=c.1988+102C>G;VC=Intron;Gene=PUM2/NM_001282791.1/0;CC=c.1820+102C>G;VC=Intron;Gene=PUM2/NM_001282752.1/0;CC=c.2057+102C>G;VC=Intron;Gene=PUM2/NM_015317.2/1;CC=c.2225+102C>G;VC=Intron;DM=PUM2/PUF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:C,G:5:5:0:0:4,1:136,23:14.42,0.00:12.58,0.00:1.84,0.00:0.96,0.00:0.96,0.00:0.87,0.00:60,60:59.5,0.0:0,0:0,0:33,139:118,12:12,0:NM_015317.1(PUM2) c.2225+102C>G,-:0.26,-:NOT_FOUND,- 2 20463222 . C . . NT END=20478343;NT GT ./. 2 20478581 . C . . NT END=20482707;NT GT ./. 2 20482993 . C . . NT END=20483103;NT GT ./. 2 20483248 . C . . NT END=20490412;NT GT ./. 2 20490196 rs397984006 TATTTACCATTCCTGTCGTTGAGTCTCA T 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TATTTACCATTCCTGTCGTTGAGTCTCA/0.1667,T/0.8333;DB;DBA=NA;PAF=TATTTACCATTCCTGTCGTTGAGTCTCA/0.1667,T/0.8333;NP=83;Gene=PUM2/NM_001282790.1/0;CC=c.1291+190_1291+216delTGAGACTCAACGACAGGAATGGTAAAT;VC=Intron;Gene=PUM2/NM_001282791.1/0;CC=c.1123+190_1123+216delTGAGACTCAACGACAGGAATGGTAAAT;VC=Intron;Gene=PUM2/NM_001282752.1/0;CC=c.1123+190_1123+216delTGAGACTCAACGACAGGAATGGTAAAT;VC=Intron;Gene=PUM2/NM_015317.2/1;CC=c.1291+190_1291+216delTGAGACTCAACGACAGGAATGGTAAAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TATTTACCATTCCTGTCGTTGAGTCTCA,T:5:5:0:4:1,4:34,131:0.00,13.92:0.00,13.92:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:58,60:9.0,0.0:0,0:0,0:105,43:28,107:0,2:-,NM_015317.1(PUM2) c.1291+190_1291+216delTGAGACTCAACGACAGGAATGGTAAAT:-,0.73:-,NOT_FOUND 2 20490552 . C . . NT END=20494136;NT GT ./. 2 20490841 rs917904 T A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1873,A/0.8127;PC=0.907;Gene=PUM2/NM_001282790.1/0;CC=c.1153-290A>T;VC=Intron;Gene=PUM2/NM_001282791.1/0;CC=c.985-290A>T;VC=Intron;Gene=PUM2/NM_001282752.1/0;CC=c.985-290A>T;VC=Intron;Gene=PUM2/NM_015317.2/1;CC=c.1153-290A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:104:12.23:0.00:12.23:1.00:0.00:1.00:60:60.5:0:0:117:34:19:NM_015317.1(PUM2) c.1153-290A>T,NM_015317.1(PUM2) c.1153-290A>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 20494280 . C . . NT END=20497313;NT GT ./. 2 20497440 . C . . NT END=20507738;NT GT ./. 2 20507833 . C . . NT END=20508074;NT GT ./. 2 20508346 . C . . NT END=20511254;NT GT ./. 2 20511425 . C . . NT END=20511996;NT GT ./. 2 20512185 . C . . NT END=20518297;NT GT ./. 2 20518407 . C . . NT END=20526021;NT GT ./. 2 20525948 rs9306890 T C 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6785,C/0.3215;PC=0.058;Gene=PUM2/NM_001282790.1/0;CC=c.51+1123A>G;VC=Intron;Gene=PUM2/NM_001282791.1/0;CC=c.-118+74A>G;VC=Intron;Gene=PUM2/NM_001282752.1/0;CC=c.-9+1123A>G;VC=Intron;Gene=PUM2/NM_015317.2/1;CC=c.51+1123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:17:16:0:0:11,6:356,174:36.07,0.00:30.23,0.00:5.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,18.8:0,0:0,0:25,44:122,106:13,16:NM_015317.1(PUM2) c.51+1123A>G,-:0.33,-:NOT_FOUND,- 2 20526147 . C . . NT END=20527070;NT GT ./. 2 20527145 . G . . NT END=20550357;NT GT ./. 2 20536442 rs537931954 TTG T,TTGTGTGTG 23 idl,nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=TTG/0.5487,T/0.4513;DB;DBA=NA;PAF=TTG/0.5487,T/0.4513;NP=115;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:26:TTG,TTGTGTGTG,T:12:15:8:5:2,7,3:66,252,120:0.00,22.77,8.04:0.00,22.57,6.75:0.00,0.20,1.29:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.86,0.00:60,60,60:49.5,40.0,28.0:0,1,2:0,0,0:40,44,39:80,103,98:19,7,8:chr2 g.20536443_20536444delTG (intergenic),chr2 g.20536443TG[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 20550563 . A . . NT END=20647226;NT GT ./. 2 20647818 . G . . NT END=20818435;NT GT ./. 2 20729143 rs72362297 C CT 46 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3191,CT/0.6809,CTT/.,CTTT/.;DB;DBA=NA;PAF=C/0.3191,CT/0.6809,CTT/.;DB;DBA=NA;PAF=C/0.3191,CT/0.6809,CTT/.;NP=31;NP=78;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,G,CT,D:21:22:15:2:4,1,14,2:114,10,470,63:0.00,0.26,46.09,5.01:0.00,0.26,46.09,5.01:0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00:60,60,60,60:45.0,31.0,31.2,34.0:0,0,1,0:0,0,0,0:62,103,46,23:89,14,105,116:22,0,31,5:-,chr2 g.20729143_20729144insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 20729597 rs2289084 T C 125 nt VT=SNV;PN=T;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.7752,C/0.2248;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:48:0:0:42,29:1261,913:125.23,0.00:66.57,0.00:58.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,9.7:0,0:0,0:88,67:62,81:38,27:chr2 g.20729596T>C (intergenic),-:0.19,-:NOT_FOUND,- 2 20729746 rs4666416 T C 337 nt VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.01917,C/0.9808;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:93:55:0:0:93:2926:336.78:134.25:202.53:1.00:1.00:1.00:60:42.2:0:0:81:70:31:chr2 g.20729745T>C (intergenic),chr2 g.20729745T>C (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 2 20729915 rs6737468 T C 64 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.01857,C/0.9814 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:0:0:0:17:563:64.41:0.00:64.41:1.00:0.00:1.00:60:55.2:0:0:87:64:17:chr2 g.20729914T>C (intergenic),chr2 g.20729914T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 20729929 rs61556739 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7774,C/0.2226 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:8,9:222,311:20.90,0.00:0.00,0.00:20.90,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:79.0,30.4:0,0:0,0:95,90:56,59:48,27:chr2 g.20729928T>C (intergenic),-:0.18,-:NOT_FOUND,- 2 20730032 rs67302202 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8746,A/0.1254;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:7:0:0:0:5,2:176,66:18.17,0.00:0.00,0.00:18.17,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:73.6,14.5:0,0:0,0:120,116:29,34:18,1:chr2 g.20730031G>A (intergenic),-:0.11,-:NOT_FOUND,- 2 20806921 rs397699034 C CT 15 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5325,CT/0.4675;DB;DBA=NA;PAF=C/0.5325,CT/0.4675;NP=1;NP=358;PC=0.001;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CT:4:3:4:0:4:127:14.61:8.99:5.62:1.00:1.00:1.00:60:50.0:0:0:31:119:12:chr2 g.20806921_20806922insT (intergenic),chr2 g.20806921_20806922insT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 20818286 rs3821217 A C 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1881,C/0.8119;Gene=HS1BP3/NM_022460.3/1;CC=c.*461T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,T:9:9:0:0:8,1:255,7:28.88,0.35:28.88,0.35:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.8,49.0:0,0:0,0:46,57:105,94:23,0:NM_022460.3(HS1BP3) c.*461T>G,NM_022460.3(HS1BP3) c.*461T>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 20818454 rs3732152 T A 217 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.1885,A/0.8115;Gene=HS1BP3/NM_022460.3/1;CC=c.*293A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:A:58:52:0:0:58:1893:216.90:157.56:59.34:1.00:1.00:1.00:60:37.8:0:0:51:96:31:NM_022460.3(HS1BP3) c.*293A>T,NM_022460.3(HS1BP3) c.*293A>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 20819006 . C . . NT END=20821940;NT GT ./. 2 20822080 . C . . NT END=20823655;NT GT ./. 2 20822218 rs4666444 T C 49 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.003994,C/0.996;NP=119;Gene=HS1BP3/NM_022460.3/1;CC=c.920+1438A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:C:16:1:0:0:16:419:49.31:1.84:47.47:1.00:1.00:1.00:60:49.5:0:0:98:52:26:NM_022460.3(HS1BP3) c.920+1438A>G,NM_022460.3(HS1BP3) c.920+1438A>G:1,1:NOT_FOUND,NOT_FOUND 2 20823612 rs13030108 A G 265 nt VT=SNV;PN=G;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.2059,C/.,G/0.7941;PC=0.001;Gene=HS1BP3/NM_022460.3/1;CC=c.920+44T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:71:65:0:0:71:2311:264.89:193.22:71.67:1.00:1.00:1.00:60:50.1:0:0:48:103:25:NM_022460.3(HS1BP3) c.920+44T>C,NM_022460.3(HS1BP3) c.920+44T>C:0.81,0.81:0.746802,0.746802 2 20823724 rs6531248 T C 341 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.003794,C/0.9962,G/.;NP=3288;Gene=HS1BP3/NM_022460.3/1;CC=c.852A>G;ProtCh=p.P284=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:60:0:0:96:2955:341.12:159.27:181.86:1.00:1.00:1.00:60:58.6:0:0:92:49:32:NM_022460.3(HS1BP3) c.852A>G (p.(=)),NM_022460.3(HS1BP3) c.852A>G (p.(=)):1,1:0.993003,0.993003 2 20823792 . C . . NT END=20824491;NT GT ./. 2 20823816 rs2305460 G A,T 126 nt VT=SNV;PN=G;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:A,T:71:26:0:0:37,34:1191,1095:126.28,114.81:29.75,20.64:96.53,94.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.5,71.1:0,0:0,0:91,76:59,75:27,22:NM_022460.3(HS1BP3) c.785-25C>T,NM_022460.3(HS1BP3) c.785-25C>A:NOT_FOUND,0.47:NOT_FOUND,0.339563 2 20823850 rs6733419 T C 209 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.003794,C/0.9962;NP=3082;Gene=HS1BP3/NM_022460.3/1;CC=c.785-59A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:C:61:15:0:0:61:1804:209.02:31.80:177.22:1.00:1.00:1.00:60:85.6:0:0:102:46:21:NM_022460.3(HS1BP3) c.785-59A>G,NM_022460.3(HS1BP3) c.785-59A>G:1,1:NOT_FOUND,NOT_FOUND 2 20823858 rs2305459 C T 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.7616,T/0.2384;PC=0.015;Gene=HS1BP3/NM_022460.3/1;CC=c.785-67G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:13:0:0:26,30:840,951:0.00,92.58:0.00,15.08:0.00,77.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.5,94.0:0,0:0,0:107,90:43,52:13,33:-,NM_022460.3(HS1BP3) c.785-67G>A:-,0.27:-,NOT_FOUND 2 20824498 rs2305458 C T 177 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.618,T/0.382;Gene=HS1BP3/NM_022460.3/1;CC=c.778G>A;ProtCh=p.V260M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:99:80:0:0:43,1,55:1352,9,1797:0.00,-0.11,176.75:0.00,-0.03,100.97:0.00,-0.08,75.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.2,141.0,39.0:0,0,0:0,0,0:50,62,49:93,77,96:26,0,28:-,NM_022460.3(HS1BP3) c.778G>A (p.Val260Met):-,0.41:-,0.49531 2 20824653 . C . . NT END=20838195;NT GT ./. 2 20838413 . C . . NT END=20840732;NT GT ./. 2 20838560 rs7596314 A G 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.003594,G/0.9964;NP=1765;Gene=HS1BP3/NM_022460.3/1;CC=c.407-148T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:283:32.58:0.00:32.58:1.00:0.00:1.00:60:37.9:0:0:98:53:12:NM_022460.3(HS1BP3) c.407-148T>C,NM_022460.3(HS1BP3) c.407-148T>C:1,1:NOT_FOUND,NOT_FOUND 2 20840941 . C . . NT END=20845099;NT GT ./. 2 20841059 rs4666449 C T 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4681,T/0.5319;Gene=HS1BP3/NM_022460.3/1;CC=c.199-119G>A;VC=Intron;DM=HS1BP3/PX;DM=HS1BP3/PX;DM=HS1BP3/PX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:12,7:378,211:0.00,18.99:0.00,0.00:0.00,18.99:0.00,0.98:0.00,0.00:0.00,0.98:60,60:14.6,41.4:0,0:0,0:120,120:30,31:18,17:-,NM_022460.3(HS1BP3) c.199-119G>A:-,0.55:-,NOT_FOUND 2 20845266 . C . . NT END=20850791;NT GT ./. 2 20845273 rs2304423 G A 261 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.254,A/0.746;Gene=HS1BP3/NM_022460.3/1;CC=c.33-8C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:34:0:0:67:2290:260.95:91.66:169.29:1.00:1.00:1.00:60:48.5:0:0:91:52:31:NM_022460.3(HS1BP3) c.33-8C>T,NM_022460.3(HS1BP3) c.33-8C>T:0.7,0.7:0.687452,0.687452 2 20845413 rs2304424 C G 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8788,G/0.1212;Gene=HS1BP3/NM_022460.3/1;CC=c.33-148G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:21:0:0:0:11,10:356,295:0.00,27.93:0.00,0.00:0.00,27.93:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.2,53.4:0,0:0,0:106,94:45,56:31,30:-,NM_022460.3(HS1BP3) c.33-148G>C:-,0.13:-,NOT_FOUND 2 20850827 . G . . NT END=20866999;NT GT ./. 2 20866720 rs10205228 G C 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1857,C/0.8143;Gene=GDF7/NM_182828.2/1;CC=c.-280G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:331:37.87:37.87:0.00:1.00:1.00:0.00:60:38.6:0:0:34:116:27:NM_182828.2(GDF7) c.-280G>C,NM_182828.2(GDF7) c.-280G>C:0.77,0.77:NOT_FOUND,NOT_FOUND 2 20866888 rs70939049 CG C 198 nt VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=187;PC=0.602;Gene=GDF7/NM_182828.2/1;CC=c.-109delG;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:CG,C:62:59:0:59:3,59:85,1747:0.00,197.57:0.00,168.00:0.00,29.57:0.00,1.00:0.00,1.00:0.00,1.00:60,70:11.3,18.2:0,0:0,0:146,50:3,97:2,31:NM_182828.2(GDF7) c.-111G[2],NM_182828.2(GDF7) c.-111G[2]:0.98,0.98:NOT_FOUND,NOT_FOUND 2 20867122 rs563301908 G GGGCGGCGGC 181 idl VT=INS;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.1891,GGGCGGCGGC/0.8109;PC=0.004;Gene=GDF7/NM_182828.2/1;CC=c.149_150insCGGCGGCGG;ProtCh=p.G50_R51insGGG;VC=InFrameIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGGCGGCGGC:137:78:71:0:70,67:2246,2023:0.00,181.28:0.00,57.95:0.00,123.33:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.5,6.8:0,4:0,0:117,85:27,60:12,15:-,NM_182828.2(GDF7) c.126CGG[11] (p.Gly41[13]):-,NOT_FOUND:-,NOT_FOUND 2 20867391 . G . . NT END=20870223;NT GT ./. 2 20870018 rs1865679 T G 91 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=157;Gene=GDF7/NM_182828.2/1;CC=c.392-206T>G;VC=Intron;DM=GDF7/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:25:0:0:25:796:91.47:91.47:0.00:1.00:1.00:0.00:60:49.9:0:0:42:106:32:NM_182828.2(GDF7) c.392-206T>G,NM_182828.2(GDF7) c.392-206T>G:1,1:NOT_FOUND,NOT_FOUND 2 20870579 rs13013489 G A 684 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.1923,A/0.8077;PC=0.405;Gene=GDF7/NM_182828.2/1;CC=c.747G>A;ProtCh=p.R249=;VC=Silent;DM=GDF7/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:196:113:0:0:194,1,1:5937,9,11:683.61,0.00,0.07:295.39,0.00,-0.00:388.22,0.00,0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:70,60,60:37.9,52.0,202.0:0,0,0:0,0,0:77,101,137:71,21,14:35,0,0:NM_182828.2(GDF7) c.747G>A (p.(=)),NM_182828.2(GDF7) c.747G>A (p.(=)):0.77,0.77:0.854712,0.854712 2 20871186 . C . . NT END=20886662;NT GT ./. 2 20871190 rs4666457 A C 338 nt VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.0009984,C/0.999;NP=2367;PC=0.026;Gene=GDF7/NM_182828.2/1;CC=c.*5A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:93:57:0:0:92,1:2952,11:338.33,0.14:138.48,0.00:199.85,0.14:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,44.0:0,0:0,0:84,102:63,49:29,0:NM_182828.2(GDF7) c.*5A>C,NM_182828.2(GDF7) c.*5A>C:1,1:0.996874,0.996874 2 20871293 rs1564696 A G 168 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.0009984,G/0.999;NP=1106;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:13:0:0:45:1463:167.69:29.03:138.66:1.00:1.00:1.00:60:57.8:0:0:111:36:21:chr2 g.20871292A>G (intergenic),chr2 g.20871292A>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 20886855 . C . . NT END=20901329;NT GT ./. 2 20901413 . C . . NT END=20939730;NT GT ./. 2 20939706 rs2046325 T C 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=LDAH/NM_001282719.1/0;CC=c.577+25A>G;VC=Intron;Gene=LDAH/NM_001282720.1/0;CC=c.559+25A>G;VC=Intron;Gene=LDAH/NM_001282721.1/0;CC=c.313+25A>G;VC=Intron;Gene=LDAH/NM_001282722.1/0;CC=c.313+25A>G;VC=Intron;Gene=LDAH/NM_001282723.1/0;CC=c.468+34864A>G;VC=Intron;Gene=LDAH/NM_001282724.1/0;CC=c.342+34864A>G;VC=Intron;Gene=LDAH/NM_021925.3/1;CC=c.703+25A>G;VC=Intron;Gene=LDAH/NR_104233.1/0;VC=NonCoding;DM=LDAH/DUF2305 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:23:0:0:13,12:431,383:41.79,0.00:36.88,0.00:4.91,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:68.3,2.7:0,0:0,0:31,47:120,103:21,28:NM_021925.2(C2orf43) c.703+25A>G,-:0.3,-:0.00323,- 2 20939708 rs653347 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.5625,T/0.4375;Gene=LDAH/NM_001282719.1/0;CC=c.577+23G>A;VC=Intron;Gene=LDAH/NM_001282720.1/0;CC=c.559+23G>A;VC=Intron;Gene=LDAH/NM_001282721.1/0;CC=c.313+23G>A;VC=Intron;Gene=LDAH/NM_001282722.1/0;CC=c.313+23G>A;VC=Intron;Gene=LDAH/NM_001282723.1/0;CC=c.468+34862G>A;VC=Intron;Gene=LDAH/NM_001282724.1/0;CC=c.342+34862G>A;VC=Intron;Gene=LDAH/NM_021925.3/1;CC=c.703+23G>A;VC=Intron;Gene=LDAH/NR_104233.1/0;VC=NonCoding;DM=LDAH/DUF2305 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:23:0:0:12,13:374,435:0.00,42.19:0.00,37.54:0.00,4.66:0.00,1.00:0.00,1.00:0.00,0.97:60,60:1.8,68.3:0,0:0,0:31,33:119,118:19,21:-,NM_021925.2(C2orf43) c.703+23G>A:-,0.42:-,0.239889 2 20939966 . C . . NT END=20974569;NT GT ./. 2 20974740 . C . . NT END=20990014;NT GT ./. 2 20990159 . C . . NT END=21001051;NT GT ./. 2 21001224 . T . . NT END=21224601;NT GT ./. 2 21027112 rs56219488 T TAGAC 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=5;NP=6;PC=0.009;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:T,TAGAC:5:3:3:0:2,3:44,96:0.00,9.60:0.00,1.01:0.00,8.59:0.00,0.78:0.00,0.94:0.00,0.94:60,60:53.5,7.0:1,2:0,0:71,53:77,98:62,2:-,NM_021925.2(C2orf43) c.-33-u4286_-33-u4285insGTCT:-,NOT_FOUND:-,NOT_FOUND 2 21086090 . ATGTGTG T,A 6 idl,nt VT=DEL;SST=Single;DP=5;NP=1;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:T,A:3:3:0:6:1,2:10,123:0.79,6.46:0.79,-0.15:0.00,6.61:0.00,0.46:0.00,0.80:0.00,0.87:60,70:32.0,25.5:0,2:0,0:133,34:18,101:0,25:chr2 g.21086090_21086096delATGTGTGinsT (intergenic),chr2 g.21086091_21086096delTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 21086225 rs974394 T A,C 11 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.00619,C/0.9938;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:A,C:4:2:0:0:1,3:34,96:3.28,10.66:0.00,3.70:3.28,6.95:0.00,0.85:0.00,0.95:0.00,0.85:60,60:34.0,45.7:0,0:0,0:144,123:7,27:0,10:chr2 g.21086224T>A (intergenic),chr2 g.21086224T>C (intergenic):NOT_FOUND,0.99:NOT_FOUND,NOT_FOUND 2 21224853 rs1801695 C T 124 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=94;DB;DBA=in-clinvar;PAF=C/0.9858,G/.,T/0.01418;PC=0.808;Gene=APOB/NM_000384.2/1;CC=c.13441G>A;ProtCh=p.A4481T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:94:56:0:0:50,1,43:1584,10,1313:0.00,-0.13,123.92:0.00,-0.00,55.76:0.00,-0.13,68.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.4,10.0,37.7:0,0,0:0,0,0:76,14,58:73,137,91:35,0,31:-,NM_000384.2(APOB) c.13441G>A (p.Ala4481Thr):-,0.02:-,0.028525 2 21225281 rs1042034 C T 107 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=72;DB;DBA=in-clinvar;PAF=C/0.3704,T/0.6296;PC=0.001;Gene=APOB/NM_000384.2/1;CC=c.13013G>A;ProtCh=p.S4338N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:49:0:0:36,36:1200,1119:0.00,107.34:0.00,58.05:0.00,49.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,46.4:0,0:0,0:73,65:77,85:41,41:-,NM_000384.2(APOB) c.13013G>A (p.Ser4338Asn):-,0.66:-,0.802972 2 21226207 . C . . NT END=21227140;NT GT ./. 2 21227325 . C . . NT END=21227432;NT GT ./. 2 21227548 . C . . NT END=21227951;NT GT ./. 2 21231524 rs676210 G A 120 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=81;DB;DBA=in-clinvar;PAF=G/0.6338,A/0.3662,T/.;PC=1.000;Gene=APOB/NM_000384.2/1;CC=c.8216C>T;ProtCh=p.P2739L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:81:50:0:0:38,1,42:1255,12,1314:119.62,-0.04,0.00:76.53,0.09,0.00:43.08,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.0,70.0,7.9:0,0,0:0,0,0:66,46,101:84,105,49:38,0,23:NM_000384.2(APOB) c.8216C>T (p.Pro2739Leu),-:0.34,-:0.196525,- 2 21232195 rs693 G A 165 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=in-clinvar;PAF=G/0.749,A/0.251;PC=0.215;Gene=APOB/NM_000384.2/1;CC=c.7545C>T;ProtCh=p.T2515=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:109:69:0:0:54,1,54:1713,12,1632:164.54,-0.07,0.00:70.47,0.04,0.00:94.07,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.0,21.0,7.2:0,0,0:0,0,0:53,138,84:97,13,62:34,0,30:NM_000384.2(APOB) c.7545C>T (p.(=)),-:0.27,-:0.413886,- 2 21232803 rs584542 T C 225 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.01378,A/.,C/0.9862;Gene=APOB/NM_000384.2/1;CC=c.6937A>G;ProtCh=p.I2313V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:C:60:32:0:0:60:1960:224.60:98.05:126.56:1.00:1.00:1.00:60:52.4:0:0:75:73:46:NM_000384.2(APOB) c.=,NM_000384.2(APOB) c.=:0.97,0.97:0.981624,0.981624 2 21232804 rs1041968 G A 104 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=in-clinvar;PAF=G/0.7508,A/0.2492;Gene=APOB/NM_000384.2/1;CC=c.6936C>T;ProtCh=p.D2312=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:31:0:0:32,27:1062,888:103.79,0.00:51.65,0.00:52.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.9,32.9:0,0:0,0:75,75:72,74:39,58:NM_000384.2(APOB) c.6936_6937delCGinsTA (p.Val2313Ile),-:0.22,-:0.395971,- 2 21235475 rs568413 T C 254 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=3467;PC=0.001;Gene=APOB/NM_000384.2/1;CC=c.4265A>G;ProtCh=p.Y1422C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:66:36:0:0:66:2227:254.13:102.37:151.76:1.00:1.00:1.00:60:38.8:0:0:74:75:39:NM_000384.2(APOB) c.=,NM_000384.2(APOB) c.=:1,1:0.999692,0.999692 2 21235524 . C . . NT END=21236031;NT GT ./. 2 21236406 . C . . NT END=21237319;NT GT ./. 2 21236482 rs488329 A G 144 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.008986,G/0.991;NP=3403;Gene=APOB/NM_000384.2/1;CC=c.3843-77T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:A,G:41:14:0:0:1,40:9,1269:0.00,144.26:0.00,31.99:0.00,112.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,36.9:0,0:0,0:42,95:108,53:0,23:NM_000384.2(APOB) c.3843-77T>C,NM_000384.2(APOB) c.3843-77T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 21237466 . C . . NT END=21237944;NT GT ./. 2 21237544 rs673548 G A 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6142,A/0.3858;Gene=APOB/NM_000384.2/1;CC=c.3697-79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:11:0:0:14,24:418,766:37.58,0.00:9.93,0.00:27.65,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:51.4,16.8:0,0:0,0:101,109:49,36:17,19:NM_000384.2(APOB) c.3697-79C>T,-:0.35,-:NOT_FOUND,- 2 21238133 . C . . NT END=21238241;NT GT ./. 2 21238418 . C . . NT END=21239310;NT GT ./. 2 21239158 . CA C 9 rn VT=DEL;SST=Single;DP=11;PC=0.010;Gene=APOB/NM_000384.2/1;CC=c.3332+152delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:CA,I,C:10:11:3:3:5,2,3:172,97,96:0.00,5.44,8.65:0.00,5.44,8.65:0.00,0.00,0.00:0.00,0.00,0.60:0.00,0.00,0.60:0.00,0.00,0.00:60,60,60:2.4,12.5,0.0:0,1,0:0,0,0:50,21,11:100,130,140:22,13,9:-,NM_000384.2(APOB) c.3332+152delT:-,NOT_FOUND:-,NOT_FOUND 2 21239522 . C . . NT END=21241863;NT GT ./. 2 21239667 rs12720816 T C 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8556,C/0.1444;PC=0.293;Gene=APOB/NM_000384.2/1;CC=c.3122-146A>G;VC=Intron;DM=APOB/DUF1081 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:11,7:329,215:32.87,0.00:0.00,0.00:32.87,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.8,69.6:0,0:0,0:98,89:53,55:22,31:NM_000384.2(APOB) c.3122-146A>G,-:0.16,-:NOT_FOUND,- 2 21241986 . C . . NT END=21242594;NT GT ./. 2 21242778 . C . . NT END=21245702;NT GT ./. 2 21245915 . C . . NT END=21246396;NT GT ./. 2 21246565 . C . . NT END=21247804;NT GT ./. 2 21247997 . C . . NT END=21249659;NT GT ./. 2 21249837 . C . . NT END=21250699;NT GT ./. 2 21250914 rs679899 G A 115 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=in-clinvar;PAF=G/0.515,A/0.485;PC=1.000;Gene=APOB/NM_000384.2/1;CC=c.1853C>T;ProtCh=p.A618V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:11:0:0:34:987:114.81:25.89:88.92:1.00:1.00:1.00:60:36.6:0:0:100:47:25:NM_000384.2(APOB) c.1853C>T (p.Ala618Val),NM_000384.2(APOB) c.1853C>T (p.Ala618Val):0.49,0.49:0.365524,0.365524 2 21250938 . C . . NT END=21251198;NT GT ./. 2 21251040 rs570877 T G 70 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.126,G/0.874;Gene=APOB/NM_000384.2/1;CC=c.1830-103A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A,G:20:10:0:0:1,19:14,614:0.66,70.02:0.00,36.92:0.66,33.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.0,48.5:0,0:0,0:96,71:55,80:0,26:NM_000384.2(APOB) c.1830-103A>C,NM_000384.2(APOB) c.1830-103A>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 21251411 . C . . NT END=21252510;NT GT ./. 2 21252365 rs67556837 GAGGA G 53 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1400;Gene=APOB/NM_000384.2/1;CC=c.1617+142_1617+145delTCCT;VC=Intron;DM=APOB/Vitellogenin_N;DM=APOB/Vitellogenin_N;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:GAGGA,G:17:17:0:16:1,16:34,471:0.00,53.06:0.00,53.06:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:0.0,10.3:0,0:0,0:142,23:8,127:0,22:NM_000384.2(APOB) c.1617+142_1617+145delTCCT,NM_000384.2(APOB) c.1617+142_1617+145delTCCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 21252658 . C . . NT END=21252769;NT GT ./. 2 21252888 . C . . NT END=21255225;NT GT ./. 2 21255454 . C . . NT END=21256170;NT GT ./. 2 21255573 rs190024507 C CCATCT 68 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.125,CCATC/.,CCATCT/0.875;DB;DBA=NA;PAF=NA;NP=44;Gene=APOB/NM_000384.2/1;CC=c.1125-121_1125-120insAGATG;VC=Intron;DM=APOB/Vitellogenin_N;DM=APOB/Vitellogenin_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,CCATCT:23:0:21:0:2,21:57,605:0.00,67.55:0.00,0.00:0.00,67.55:0.00,1.00:0.00,0.00:0.00,1.00:60,60:57.5,16.5:0,0:0,0:135,101:1,50:4,24:-,NM_000384.2(APOB) c.1125-121_1125-120insAGATG:-,NOT_FOUND:-,NOT_FOUND 2 21256391 . C . . NT END=21257687;NT GT ./. 2 21257774 . C . . NT END=21258455;NT GT ./. 2 21258581 . C . . NT END=21259971;NT GT ./. 2 21260128 . C . . NT END=21260829;NT GT ./. 2 21260601 rs550619 G A 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.132,A/0.868;Gene=APOB/NM_000384.2/1;CC=c.537+229C>T;VC=Intron;DM=APOB/Vitellogenin_N;DM=APOB/Vitellogenin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:213:24.63:24.63:0.00:1.00:1.00:0.00:60:44.6:0:0:43:108:26:NM_000384.2(APOB) c.537+229C>T,NM_000384.2(APOB) c.537+229C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 2 21260984 . C . . NT END=21263809;NT GT ./. 2 21263639 rs531819 T G 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1456,G/0.8544;PC=0.001;Gene=APOB/NM_000384.2/1;CC=c.383+171A>C;VC=Intron;DM=APOB/Vitellogenin_N;DM=APOB/Vitellogenin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:423:48.50:48.50:0.00:1.00:1.00:0.00:60:40.2:0:0:31:119:22:NM_000384.2(APOB) c.383+171A>C,NM_000384.2(APOB) c.383+171A>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 21263956 . C . . NT END=21265232;NT GT ./. 2 21265141 rs661665 C A 70 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4367,A/0.5633;Gene=APOB/NM_000384.2/1;CC=c.237+92G>T;VC=Intron;DM=APOB/Vitellogenin_N;DM=APOB/Vitellogenin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:20:0:0:20:604:69.88:69.88:0.00:1.00:1.00:0.00:60:42.9:0:0:37:113:21:NM_000384.2(APOB) c.237+92G>T,NM_000384.2(APOB) c.237+92G>T:0.55,0.55:NOT_FOUND,NOT_FOUND 2 21265349 . C . . NT END=21266384;NT GT ./. 2 21266424 . C . . NT END=21266735;NT GT ./. 2 21266818 . C . . NT END=23785066;NT GT ./. 2 22572327 rs370329450 A AATATTTTTGTTTT 7 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6575,AATATTTTTGTTTT/0.3425;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,AATATTTTTGTTTT:5:3:3:0:2,3:56,69:0.00,6.86:0.00,0.48:0.00,6.38:0.00,0.78:0.00,0.94:0.00,0.94:60,60:54.0,54.0:0,0:0,0:143,77:7,57:2,20:-,chr2 g.22572327_22572328insATATTTTTGTTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 23024655 rs71841912 CCA C 9 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.010;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:5:0:6:3:188:9.23:3.28:5.95:0.73:0.96:0.89:60:53.7:3:0:47:89:10:chr2 g.23024656_23024657delCA (intergenic),chr2 g.23024656_23024657delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 23223957 rs373212835 AGTGTGTGT A 20 idl,nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=8;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:8:0:11:6:310:19.53:11.44:8.09:0.99:1.00:1.00:60:22.0:4:0:42:106:22:chr2 g.23223958_23223965delGTGTGTGT (intergenic),chr2 g.23223958_23223965delGTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 23223998 rs60707296 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=167;NP=6;NP=61;NP=68;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:10:6:0:0:3,7:102,247:8.98,0.00:1.13,0.00:7.84,0.00:0.62,0.00:0.86,0.00:0.92,0.00:60,60:34.0,4.3:0,0:0,0:60,80:78,71:7,19:chr2 g.23223997G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 23343560 rs13027010 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:2:0:0:2,2:70,66:6.75,0.00:5.51,0.00:1.24,0.00:0.51,0.00:0.79,0.00:0.89,0.00:60,60:35.0,27.0:0,1:0,0:63,92:87,59:10,26:chr2 g.23343559G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 23558014 rs2723124 C A 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2212,A/0.7788 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:186:21.43:13.92:7.51:1.00:1.00:1.00:60:44.5:0:0:81:68:22:chr2 g.23558013C>A (intergenic),chr2 g.23558013C>A (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 2 23584094 rs56356438 G C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6585,C/0.3415 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:173:19.68:13.77:5.92:1.00:1.00:1.00:60:54.8:0:0:82:68:11:chr2 g.23584093G>C (intergenic),chr2 g.23584093G>C (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 2 23621739 rs56227367 TTGA T 17 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=TTGA/0.7815,T/0.2185;NP=1326;PC=0.003;Gene=KLHL29/NM_052920.1/1;CC=c.-154+13095_-154+13097delTGA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:TTGA,T:23:19:0:7:16,7:535,200:0.00,17.20:0.00,7.90:0.00,9.30:0.00,0.97:0.00,1.00:0.00,0.95:60,60:1.2,4.3:0,0:0,0:64,73:87,78:30,45:-,NM_052920.1(KLHL29) c.-154+13089_-154+13091delTGA:-,0.2:-,NOT_FOUND 2 23626599 rs9798143 T A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KLHL29/NM_052920.1/1;CC=c.-154+17948T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,T:4:4:0:1:3,1:90,35:9.45,0.00:6.55,0.00:2.90,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:30.0,0.0:0,0:0,0:107,34:44,53:20,0:NM_052920.1(KLHL29) c.-154+17948T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 23634300 rs2723111 A G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1771,G/0.8229;Gene=KLHL29/NM_052920.1/1;CC=c.-154+25649A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G:4:4:0:0:2,2:44,68:0.00,6.56:0.00,3.14:0.00,3.43:0.00,0.51:0.00,0.51:0.00,0.89:60,60:5.5,39.5:0,0:0,0:108,54:19,88:16,23:-,NM_052920.1(KLHL29) c.-154+25649A>G:-,0.78:-,NOT_FOUND 2 23659151 . TTGTGTGTG T 10 idl,rn VT=DEL;SST=Single;DP=7;NP=2;Gene=KLHL29/NM_052920.1/1;CC=c.-153-39235_-153-39228delGTGTGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:TTGTGTGTG,T:5:5:0:6:1,4:20,169:0.00,10.39:0.00,5.13:0.00,5.26:0.00,0.90:0.00,0.98:0.00,0.98:60,70:0.0,2.8:0,2:0,0:149,20:2,116:0,15:-,NM_052920.1(KLHL29) c.-153-39278_-153-39271delTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 23785352 . G . . NT END=23862008;NT GT ./. 2 23785517 rs4665225 A G 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1164,G/0.8836;Gene=KLHL29/NM_052920.1/1;CC=c.285+166A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:490:56.57:0.00:56.57:1.00:0.00:1.00:60:48.4:0:0:111:39:30:NM_052920.1(KLHL29) c.285+166A>G,NM_052920.1(KLHL29) c.285+166A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 23861886 rs870314 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8147,T/0.1853;Gene=KLHL29/NM_052920.1/1;CC=c.286-123C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:21:0:0:14,8:447,240:0.00,21.54:0.00,16.78:0.00,4.76:0.00,0.99:0.00,1.00:0.00,0.84:60,60:15.7,45.1:0,0:0,0:41,83:110,68:30,28:-,NM_052920.1(KLHL29) c.286-123C>T:-,0.21:-,NOT_FOUND 2 23862151 . G . . NT END=23865207;NT GT ./. 2 23865085 rs4665623 T C 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8159,C/0.1841;Gene=KLHL29/NM_052920.1/1;CC=c.428-123T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:27:0:0:11,17:351,514:32.20,0.00:29.04,0.00:3.16,0.00:1.00,0.00:1.00,0.00:0.69,0.00:60,60:114.1,16.7:0,0:0,0:26,37:125,114:20,25:NM_052920.1(KLHL29) c.428-123T>C,-:0.21,-:NOT_FOUND,- 2 23865109 rs3806508 C A 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.8147,A/0.1853;Gene=KLHL29/NM_052920.1/1;CC=c.428-99C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:35:33:0:0:16,19:501,620:47.23,0.00:40.70,0.00:6.53,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:115.9,17.9:0,0:0,0:24,55:123,96:9,25:NM_052920.1(KLHL29) c.428-99C>A,-:0.21,-:NOT_FOUND,- 2 23865139 rs3806509 C T 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.8161,T/0.1839;PC=0.035;Gene=KLHL29/NM_052920.1/1;CC=c.428-69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:44:0:0:29,18:862,590:0.00,54.06:0.00,43.40:0.00,10.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.3,116.9:0,0:0,0:43,46:97,102:34,17:-,NM_052920.1(KLHL29) c.428-69C>T:-,0.21:-,NOT_FOUND 2 23865176 rs3806510 G A 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.8195,A/0.1805;Gene=KLHL29/NM_052920.1/1;CC=c.428-32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:66:0:0:33,38:1113,1118:105.76,0.00:83.28,0.00:22.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:98.2,24.3:0,0:0,0:41,46:107,93:33,24:NM_052920.1(KLHL29) c.428-32G>A,-:0.2,-:0.04862,- 2 23865260 rs642931 T C 476 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.1238,C/0.8762,G/.;PC=0.075;Gene=KLHL29/NM_052920.1/1;CC=c.480T>C;ProtCh=p.I160=;VC=Silent;DM=KLHL29/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:130:104:0:0:130:4147:476.12:310.27:165.85:1.00:1.00:1.00:60:47.8:0:0:63:84:30:NM_052920.1(KLHL29) c.480T>C (p.(=)),NM_052920.1(KLHL29) c.480T>C (p.(=)):0.86,0.86:0.77661,0.77661 2 23865721 . G . . NT END=23907268;NT GT ./. 2 23907211 rs59352915 TA T 35 rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=17;PC=0.709;Gene=KLHL29/NM_052920.1/1;CC=c.941-45delA;VC=Intron;DM=KLHL29/BACK;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:52:47:2:13:1,36,2,13:29,1098,64,408:1.37,0.00,3.91,34.69:1.41,0.00,1.75,20.99:-0.05,0.00,2.17,13.70:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:29.0,17.7,15.0,10.4:0,0,0,0:0,0,0,0:0,39,59,66:150,108,82,84:0,26,5,28:-,NM_052920.1(KLHL29) c.941-57delA:-,NOT_FOUND:-,NOT_FOUND 2 23907408 . G . . NT END=23914543;NT GT ./. 2 23907532 rs66787697 TCTC T 47 sb,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=TCTC/0.1779,T/0.8221;DB;DBA=NA;PAF=TCTC/0.1779,T/0.8221;DB;DBA=NA;PAF=TCTC/0.1779,T/0.8221;NP=341;PC=1.000;Gene=KLHL29/NM_052920.1/1;CC=c.1079+148_1079+150delTCC;VC=Intron;DM=KLHL29/BACK;DM=KLHL29/BTB;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:TCTC,T:23:2:0:18:6,17:163,480:0.00,46.81:0.00,-0.08:0.00,46.89:0.00,1.00:0.00,0.93:0.00,1.00:60,60:19.0,10.0:0,1:0,0:146,48:5,102:1,31:-,NM_052920.1(KLHL29) c.1079+126_1079+128delCTC:-,0.82:-,NOT_FOUND 2 23914747 . G . . NT END=23916138;NT GT ./. 2 23916032 rs56228887 TC T 213 nt VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=205;PC=0.001;Gene=KLHL29/NM_052920.1/1;CC=c.1283-102delC;VC=Intron;DM=KLHL29/BTB;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:TC,T:63:60:0:61:2,61:51,1874:0.00,212.64:0.00,167.61:0.00,45.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,27.0:0,0:0,0:142,29:8,122:0,17:NM_052920.1(KLHL29) c.1283-106delC,NM_052920.1(KLHL29) c.1283-106delC:1,1:NOT_FOUND,NOT_FOUND 2 23916038 rs34964606 G A 78 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.8754,A/0.1246;Gene=KLHL29/NM_052920.1/1;CC=c.1283-101G>A;VC=Intron;DM=KLHL29/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:62:0:1:26,39:850,1135:78.43,0.00:62.32,0.00:16.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,12.9:25,35:0,0:31,31:117,118:14,18:NM_052920.1(KLHL29) c.1283-101G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 23916399 . G . . NT END=23918492;NT GT ./. 2 23918692 . G . . NT END=23918820;NT GT ./. 2 23919004 . G . . NT END=23919202;NT GT ./. 2 23919169 rs72796125 C T 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.9115,T/0.08846;Gene=KLHL29/NM_052920.1/1;CC=c.1925-34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:67:41:0:0:33,1,33:986,11,1098:0.00,-0.04,105.71:0.00,-0.10,57.85:0.00,0.06,47.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.8,132.0,40.1:0,0,0:0,0,0:62,115,49:86,36,97:26,0,26:-,NM_052920.1(KLHL29) c.1925-34C>T:-,0.09:-,0.104468 2 23919384 . G . . NT END=23926055;NT GT ./. 2 23926233 rs72796138 C T 90 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.9109,T/0.08906;PC=0.681;Gene=KLHL29/NM_052920.1/1;CC=c.2283C>T;ProtCh=p.I761=;VC=Silent;DM=KLHL29/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:37:0:0:41,30:1338,969:0.00,90.19:0.00,29.07:0.00,61.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,40.6:0,0:0,0:114,85:30,60:23,32:-,NM_052920.1(KLHL29) c.2283C>T (p.(=)):-,0.09:-,0.105125 2 23926250 . G . . NT END=23926588;NT GT ./. 2 23926734 . G . . NT END=23929350;NT GT ./. 2 23929535 . C . . NT END=23974915;NT GT ./. 2 23974958 . C . . NT END=23977048;NT GT ./. 2 23977178 . C . . NT END=23977516;NT GT ./. 2 23977377 rs56218741 A C 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8924,C/0.1076;Gene=ATAD2B/NM_001242338.2/0;CC=c.4191+140T>G;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.4206+140T>G;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:15:0:0:13,10:423,276:0.00,25.51:0.00,14.95:0.00,10.56:0.00,1.00:0.00,1.00:0.00,0.98:60,60:0.8,53.0:0,0:0,0:86,84:65,52:25,37:-,NM_017552.2(ATAD2B) c.4206+140T>G:-,0.11:-,NOT_FOUND 2 23977645 . C . . NT END=23980287;NT GT ./. 2 23980972 . C . . NT END=23985078;NT GT ./. 2 23985217 . C . . NT END=23988375;NT GT ./. 2 23985329 rs2712070 A T 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.2514,T/0.7486;PC=0.003;Gene=ATAD2B/NM_001242338.2/0;CC=c.3242-113T>A;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.3257-113T>A;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:4:0:0:10,14:331,461:0.00,45.70:0.00,3.31:0.00,42.39:0.00,1.00:0.00,0.97:0.00,1.00:60,60:2.6,48.1:0,0:0,0:95,83:55,66:19,27:-,NM_017552.2(ATAD2B) c.3257-113T>A:-,0.75:-,NOT_FOUND 2 23988499 . C . . NT END=24005738;NT GT ./. 2 24005899 . C . . NT END=24008896;NT GT ./. 2 24006065 rs72780188 G A 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8936,A/0.1064;PC=0.001;Gene=ATAD2B/NM_001242338.2/0;CC=c.2959-167C>T;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.2974-167C>T;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:4:0:0:0:2,2:67,69:6.45,0.00:0.00,0.00:6.45,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:33.5,11.0:0,0:0,0:113,80:37,70:26,6:NM_017552.2(ATAD2B) c.2974-167C>T,-:0.11,-:NOT_FOUND,- 2 24009094 . C . . NT END=24011381;NT GT ./. 2 24011518 . C . . NT END=24021007;NT GT ./. 2 24020812 rs17462558 T C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8928,C/0.1072;PC=0.001;Gene=ATAD2B/NM_001242338.2/0;CC=c.2640+196A>G;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.2640+196A>G;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:101:11.98:11.98:0.00:1.00:1.00:0.00:60:70.2:0:0:20:130:3:NM_017552.2(ATAD2B) c.2640+196A>G,NM_017552.2(ATAD2B) c.2640+196A>G:0.11,0.11:NOT_FOUND,NOT_FOUND 2 24021194 . C . . NT END=24033185;NT GT ./. 2 24021231 rs17509001 T C 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8926,C/0.1074;Gene=ATAD2B/NM_001242338.2/0;CC=c.2455-38A>G;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.2455-38A>G;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:10:0:0:18,10:584,307:59.06,0.00:19.61,0.00:39.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,13.3:0,0:0,0:98,129:52,20:16,12:NM_017552.2(ATAD2B) c.2455-38A>G,-:0.11,-:0.122305,- 2 24033373 . C . . NT END=24042616;NT GT ./. 2 24042357 rs9967832 C T 15 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03714,T/0.9629;Gene=ATAD2B/NM_001242338.2/0;CC=c.2267+260G>A;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.2267+260G>A;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:128:14.71:12.82:1.89:1.00:1.00:1.00:60:106.0:2:0:66:83:54:NM_017552.2(ATAD2B) c.2267+260G>A,NM_017552.2(ATAD2B) c.2267+260G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 24042380 rs72782133 T C 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ATAD2B/NM_001242338.2/0;CC=c.2267+237A>G;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.2267+237A>G;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:A,C,T:6:6:0:0:1,2,3:14,70,56:0.88,6.48,0.00:0.88,4.68,0.00:0.00,1.80,0.00:0.00,0.42,0.00:0.00,0.42,0.00:0.00,0.56,0.00:60,60,60:47.0,135.5,136.3:0,0,0:0,0,0:148,71,28:2,78,122:0,63,13:NM_017552.2(ATAD2B) c.2267+237A>G,-:0.11,-:NOT_FOUND,- 2 24042550 rs2879639 C T 70 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.03674,T/0.9633;Gene=ATAD2B/NM_001242338.2/0;CC=c.2267+67G>A;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.2267+67G>A;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:16:0:0:18:615:70.08:49.26:20.82:1.00:1.00:1.00:60:40.4:0:0:56:93:26:NM_017552.2(ATAD2B) c.2267+67G>A,NM_017552.2(ATAD2B) c.2267+67G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 24042753 . C . . NT END=24046127;NT GT ./. 2 24045941 rs10610500 CATTT C 18 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CATTT/0.893,C/0.107;NP=24;Gene=ATAD2B/NM_001242338.2/0;CC=c.2131+183_2131+186delAAAT;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.2131+183_2131+186delAAAT;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:CATTT,C:10:10:0:6:4,6:137,178:0.00,17.74:0.00,17.74:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:8.2,16.0:0,0:0,0:46,31:104,119:33,10:-,NM_017552.2(ATAD2B) c.2131+183_2131+186delAAAT:-,0.11:-,NOT_FOUND 2 24046440 . C . . NT END=24051718;NT GT ./. 2 24051810 . C . . NT END=24056788;NT GT ./. 2 24056668 rs17761971 C A 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.891,A/0.109;PC=0.168;Gene=ATAD2B/NM_001242338.2/0;CC=c.1728+121G>T;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.1728+121G>T;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:16:0:0:9,7:301,221:29.64,0.00:29.64,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.8,0.0:0,0:0,0:43,56:107,95:22,40:NM_017552.2(ATAD2B) c.1728+121G>T,-:0.12,-:NOT_FOUND,- 2 24056949 . C . . NT END=24080284;NT GT ./. 2 24080374 . C . . NT END=24086250;NT GT ./. 2 24086426 . C . . NT END=24087678;NT GT ./. 2 24087621 rs72788214 A C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8926,C/0.1074;PC=0.956;Gene=ATAD2B/NM_001242338.2/0;CC=c.1304+58T>G;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.1304+58T>G;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,C:17:16:0:0:12,5:388,126:0.00,10.50:0.00,10.73:0.00,-0.23:0.00,0.88:0.00,0.99:0.00,0.59:60,60:7.2,51.2:0,0:0,0:39,47:99,91:29,28:-,NM_017552.2(ATAD2B) c.1304+58T>G:-,0.11:-,NOT_FOUND 2 24087795 . C . . NT END=24088790;NT GT ./. 2 24087857 rs12623316 A G 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.8926,G/0.1074;PC=0.010;Gene=ATAD2B/NM_001242338.2/0;CC=c.1189-63T>C;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.1189-63T>C;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:6:0:0:13,15:430,412:0.00,39.87:0.00,12.29:0.00,27.57:0.00,1.00:0.00,0.99:0.00,1.00:60,60:5.1,36.5:0,0:0,0:136,108:14,38:9,33:-,NM_017552.2(ATAD2B) c.1189-63T>C:-,0.11:-,NOT_FOUND 2 24088876 . T . . NT END=24090704;NT GT ./. 2 24090817 . C . . NT END=24092532;NT GT ./. 2 24092632 . C . . NT END=24098698;NT GT ./. 2 24092773 rs2176263 G C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3756,C/0.6244;PC=0.005;Gene=ATAD2B/NM_001242338.2/0;CC=c.978-142C>G;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.978-142C>G;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,G,T:11:1:0:0:3,7,1:105,221,10:9.27,0.00,0.24:-0.14,0.00,-0.04:9.41,0.00,0.28:0.60,0.00,0.00:0.52,0.00,0.00:0.93,0.00,0.00:60,60,60:35.0,14.4,148.0:0,0,0:0,0,0:85,69,117:66,82,33:28,33,0:NM_017552.2(ATAD2B) c.978-142C>G,-:0.63,-:NOT_FOUND,- 2 24095285 rs72788278 A C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8902,C/0.1098;PC=0.996;Gene=ATAD2B/NM_001242338.2/0;CC=c.978-2654T>G;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.978-2654T>G;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,C:6:6:0:0:3,3:81,103:0.00,9.93:0.00,6.56:0.00,3.38:0.00,0.73:0.00,0.73:0.00,0.51:60,60:0.0,57.3:0,0:0,0:122,67:29,83:6,5:-,NM_017552.2(ATAD2B) c.978-2654T>G:-,0.11:-,NOT_FOUND 2 24095798 rs17038360 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8221,G/0.1779;PC=0.385;Gene=ATAD2B/NM_001242338.2/0;CC=c.977+2901T>C;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.977+2901T>C;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,G:9:4:0:0:6,3:197,98:0.00,8.74:0.00,1.11:0.00,7.63:0.00,0.64:0.00,0.81:0.00,0.92:60,60:0.0,32.7:0,0:0,0:118,116:32,35:26,28:-,NM_017552.2(ATAD2B) c.977+2901T>C:-,0.18:-,NOT_FOUND 2 24098775 . C . . NT END=24103508;NT GT ./. 2 24103432 rs374010112 CA C 12 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=CA/0.6855,C/0.3145;NP=70;PC=0.002;Gene=ATAD2B/NM_001242338.2/0;CC=c.901+76delT;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.901+76delT;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:CA,C:13:15:0:6:9,4:308,199:0.00,11.90:0.00,11.90:0.00,0.00:0.00,0.76:0.00,0.76:0.00,0.00:60,60:15.0,2.0:0,2:0,0:37,48:111,102:29,15:-,NM_017552.2(ATAD2B) c.901+76delT:-,NOT_FOUND:-,NOT_FOUND 2 24103626 . C . . NT END=24106463;NT GT ./. 2 24103749 rs12623079 G A 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.893,A/0.107;PC=0.038;Gene=ATAD2B/NM_001242338.2/0;CC=c.785-124C>T;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.785-124C>T;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:8,7:189,212:18.13,0.00:0.00,0.00:18.13,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.9,13.6:0,0:0,0:95,128:55,23:37,20:NM_017552.2(ATAD2B) c.785-124C>T,-:0.11,-:NOT_FOUND,- 2 24106506 . C . . NT END=24107634;NT GT ./. 2 24107744 . C . . NT END=24108596;NT GT ./. 2 24108557 rs72790304 G A 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8291,A/0.1709;Gene=ATAD2B/NM_001242338.2/0;CC=c.675+40C>T;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.675+40C>T;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:19:0:0:15,8:469,238:47.62,0.00:39.03,0.00:8.59,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:55.8,16.1:0,0:0,0:18,57:133,93:15,41:NM_017552.2(ATAD2B) c.675+40C>T,-:0.17,-:0.160276,- 2 24108652 rs7579201 T C 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=3373;PC=1.000;Gene=ATAD2B/NM_001242338.2/0;CC=c.620A>G;ProtCh=p.Q207R;VC=Missense;Gene=ATAD2B/NM_017552.3/1;CC=c.620A>G;ProtCh=p.Q207R;VC=Missense;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:C:43:32:0:0:43:1236:143.81:77.72:66.09:1.00:1.00:1.00:60:43.9:0:0:84:60:23:NM_017552.2(ATAD2B) c.620A>G (p.Gln207Arg),NM_017552.2(ATAD2B) c.620A>G (p.Gln207Arg):1,1:0.999501,0.999501 2 24108700 . C . . NT END=24110701;NT GT ./. 2 24110856 . C . . NT END=24111219;NT GT ./. 2 24110911 rs78513031 G GA 7 rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.494,GA/0.506;DB;DBA=NA;PAF=G/0.494,GA/0.506;DB;DBA=NA;PAF=NA;NP=1;NP=672;Gene=ATAD2B/NM_001242338.2/0;CC=c.419-57dupT;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.419-57dupT;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:G,T,GA:40:10:3:0:36,1,3:1120,7,99:0.00,-0.29,6.74:0.00,-0.07,2.43:0.00,-0.22,4.31:0.00,0.00,0.37:0.00,0.00,0.48:0.00,0.00,0.83:60,60,60:22.9,15.0,0.0:0,0,0:0,0,0:104,76,117:46,55,31:25,0,10:-,NM_017552.2(ATAD2B) c.419-57_419-56insT:-,NOT_FOUND:-,NOT_FOUND 2 24111270 . C . . NT END=24118688;NT GT ./. 2 24111311 rs72790306 T G 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.903,G/0.09704;PC=0.774;Gene=ATAD2B/NM_001242338.2/0;CC=c.369-42A>C;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.369-42A>C;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:25:17:0:0:1,14,10:12,459,306:0.26,45.50,0.00:-0.08,20.82,0.00:0.34,24.68,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:187.0,42.3,7.3:0,0,0:0,0,0:120,82,117:15,67,33:0,19,13:NM_017552.2(ATAD2B) c.369-42A>C,-:0.1,-:0.103986,- 2 24118841 . C . . NT END=24149424;NT GT ./. 2 24126809 rs56128748 T G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.873,TTGG/0.01458,TTGGTGT/.;DB;DBA=NA;PAF=T/0.873,G/0.1124;Gene=ATAD2B/NM_001242338.2/0;CC=c.217-7969A>C;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.217-7969A>C;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:130:14.91:10.98:3.93:1.00:1.00:1.00:60:41.0:0:0:65:74:12:NM_017552.2(ATAD2B) c.217-7969A>C,NM_017552.2(ATAD2B) c.217-7969A>C:0.11,0.11:NOT_FOUND,NOT_FOUND 2 24126904 rs6756419 A G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3484,G/0.6516;PC=0.001;Gene=ATAD2B/NM_001242338.2/0;CC=c.217-8064T>C;VC=Intron;Gene=ATAD2B/NM_017552.3/1;CC=c.217-8064T>C;VC=Intron;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:137:15.61:0.00:15.61:1.00:0.00:1.00:60:56.8:0:0:64:87:31:NM_017552.2(ATAD2B) c.217-8064T>C,NM_017552.2(ATAD2B) c.217-8064T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 2 24149439 rs61739076 G A 218 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=164;DB;DBA=NA;PAF=G/0.9044,A/0.09565;PC=0.309;Gene=ATAD2B/NM_001242338.2/0;CC=c.202C>T;ProtCh=p.L68=;VC=Silent;Gene=ATAD2B/NM_017552.3/1;CC=c.202C>T;ProtCh=p.L68=;VC=Silent;Gene=ATAD2B/NR_125717.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:164:121:0:0:75,1,88:2308,13,2897:217.62,-0.10,0.00:118.95,0.02,0.00:98.68,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.4,13.0,11.8:0,0,0:0,0,0:65,146,78:81,5,65:37,0,25:NM_017552.2(ATAD2B) c.202C>T (p.(=)),-:0.09,-:0.076893,- 2 24149641 . G . . NT END=24181184;NT GT ./. 2 24167267 rs75046532 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.8916,G/0.1084;PC=0.012;Gene=UBXN2A/NM_181713.3/1;CC=c.-15+3749A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,G:12:4:0:0:7,5:208,156:0.00,14.43:0.00,3.35:0.00,11.09:0.00,0.92:0.00,0.89:0.00,0.99:60,60:3.7,33.2:0,0:0,0:104,94:47,57:32,5:-,NM_181713.3(UBXN2A) c.-15+3749A>G:-,0.11:-,NOT_FOUND 2 24181159 rs12616678 G T 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.8215,T/0.1785;PC=0.367;Gene=UBXN2A/NM_181713.3/1;CC=c.-14-12G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:66:56:0:0:1,37,28:13,1199,877:0.02,0.00,81.74:-0.16,0.00,53.85:0.18,0.00,27.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.0,4.8,35.8:0,0,0:0,0,0:77,48,40:73,98,102:0,27,16:-,NM_181713.3(UBXN2A) c.-14-12G>T:-,0.18:-,0.193059 2 24181226 . G . . NT END=24194145;NT GT ./. 2 24193947 rs10166036 G A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2284,A/0.7716;Gene=UBXN2A/NM_181713.3/1;CC=c.42-199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:7,13:227,411:20.42,0.00:20.42,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:32.4,7.8:0,0:0,0:9,31:141,119:8,22:NM_181713.3(UBXN2A) c.42-199G>A,-:0.77,-:NOT_FOUND,- 2 24194285 . G . . NT END=24199838;NT GT ./. 2 24194490 rs12620594 G A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.8916,A/0.1084;PC=0.004;Gene=UBXN2A/NM_181713.3/1;CC=c.180+206G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:8,6:186,194:18.15,0.00:0.00,0.00:18.15,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.4,12.2:0,0:0,0:94,107:56,43:32,11:NM_181713.3(UBXN2A) c.180+206G>A,-:0.11,-:NOT_FOUND,- 2 24199946 . G . . NT END=24205765;NT GT ./. 2 24205429 rs2339935 T G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.227,G/0.773;PC=0.001;Gene=UBXN2A/NM_181713.3/1;CC=c.288-337T>G;VC=Intron;DM=UBXN2A/SEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:4:3:0:0:3,1:99,33:10.35,0.00:10.96,0.00:-0.60,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:37.0,5.0:0,0:0,0:53,97:97,54:7,0:NM_181713.3(UBXN2A) c.288-337T>G,-:0.77,-:NOT_FOUND,- 2 24205904 . G . . NT END=24207542;NT GT ./. 2 24207702 . G . . NT END=24222541;NT GT ./. 2 24222738 . T . . NT END=24232966;NT GT ./. 2 24233064 . T . . NT END=24236154;NT GT ./. 2 24236282 . T . . NT END=24239025;NT GT ./. 2 24236630 rs34751257 GT G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=30;PC=0.017;Gene=MFSD2B/NM_001080473.1/1;CC=c.222+365delT;VC=Intron;DM=MFSD2B/MFS_2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GT,G:4:0:0:3:1,3:34,93:0.00,9.75:0.00,0.00:0.00,9.75:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,98.0:0,0:0,0:117,88:33,63:0,16:-,NM_001080473.1(MFSD2B) c.222+351delT:-,NOT_FOUND:-,NOT_FOUND 2 24238928 rs72781680 C T 81 nt VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.9014,T/0.09864;Gene=MFSD2B/NM_001080473.1/1;CC=c.223-98C>T;VC=Intron;DM=MFSD2B/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:46:0:0:23,26:712,830:0.00,80.67:0.00,75.29:0.00,5.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,40.2:0,0:0,0:34,35:117,109:12,23:-,NM_001080473.1(MFSD2B) c.223-98C>T:-,0.1:-,NOT_FOUND 2 24239152 . T . . NT END=24239714;NT GT ./. 2 24239189 rs372694818 T TCCTGGC 86 nt VT=INS;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.9016,TCCTGGC/0.09844;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9016,TCCTGGC/0.09844;NP=1;NP=5;Gene=MFSD2B/NM_001080473.1/1;CC=c.347+44_347+49dupGCCCTG;VC=Intron;DM=MFSD2B/MFS_2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCCTGGC:89:36:30:0:4,55,30:104,1661,959:6.08,0.00,86.26:-0.32,0.00,16.93:6.40,0.00,69.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:48.2,13.0,1.3:0,1,0:0,0,0:9,104,87:138,42,60:4,35,21:-,NM_001080473.1(MFSD2B) c.347+39_347+40insCCTGGC:-,0.08:-,0.101899 2 24239840 . T . . NT END=24240155;NT GT ./. 2 24240236 . T . . NT END=24240327;NT GT ./. 2 24240460 . T . . NT END=24244517;NT GT ./. 2 24243010 rs149927649 C T 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=4;Gene=MFSD2B/NM_001080473.1/1;CC=c.682-1508C>T;VC=Intron;DM=MFSD2B/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:2:0:0:6,7:206,218:0.00,21.24:0.00,1.59:0.00,19.66:0.00,0.99:0.00,0.82:0.00,0.99:60,60:10.3,32.3:0,0:0,0:65,128:85,23:55,13:-,NM_001080473.1(MFSD2B) c.682-1508C>T:-,0.0014:-,NOT_FOUND 2 24243127 rs2136264 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2953,C/0.7047;PC=0.001;Gene=MFSD2B/NM_001080473.1/1;CC=c.682-1391T>C;VC=Intron;DM=MFSD2B/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:102:12.03:0.00:12.03:1.00:0.00:1.00:60:28.5:0:0:120:31:6:NM_001080473.1(MFSD2B) c.682-1391T>C,NM_001080473.1(MFSD2B) c.682-1391T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 24244610 . T . . NT END=24244718;NT GT ./. 2 24244842 . T . . NT END=24245302;NT GT ./. 2 24245388 . T . . NT END=24245691;NT GT ./. 2 24245659 rs17712391 C T 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.9022,T/0.09784;Gene=MFSD2B/NM_001080473.1/1;CC=c.979-33C>T;VC=Intron;DM=MFSD2B/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:80:0:0:48,36:1592,1161:0.00,108.32:0.00,78.37:0.00,29.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,37.3:0,0:0,0:48,52:98,92:22,32:-,NM_001080473.1(MFSD2B) c.979-33C>T:-,0.1:-,0.104564 2 24245774 . T . . NT END=24245999;NT GT ./. 2 24245929 . G A 87 nt VT=SNV;PN=C;NN=A;SST=Single;DP=72;NP=2;Gene=MFSD2B/NM_001080473.1/1;CC=c.1060-71G>A;VC=Intron;DM=MFSD2B/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:72:50:0:0:30,1,41:933,10,1236:86.60,-0.12,0.00:40.28,-0.18,0.00:46.33,0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.1,52.0,7.7:0,0,0:0,0,0:54,90,52:96,60,99:18,0,33:NM_001080473.1(MFSD2B) c.1060-71G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 24246111 . T . . NT END=24246452;NT GT ./. 2 24246175 rs12989842 C T 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.227,T/0.773;Gene=MFSD2B/NM_001080473.1/1;CC=c.1169+66C>T;VC=Intron;DM=MFSD2B/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:8:0:0:16,13:421,428:0.00,40.38:0.00,8.57:0.00,31.81:0.00,1.00:0.00,0.98:0.00,1.00:60,60:24.6,48.8:0,0:0,0:74,106:76,44:42,36:-,NM_001080473.1(MFSD2B) c.1169+66C>T:-,0.78:-,NOT_FOUND 2 24246598 . T . . NT END=24246964;NT GT ./. 2 24246679 rs925228 A G 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.2143,G/0.7857;Gene=MFSD2B/NM_001080473.1/1;CC=c.1313+83A>G;VC=Intron;DM=MFSD2B/MFS_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:16:0:0:24,17:810,514:0.00,47.40:0.00,10.26:0.00,37.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,46.6:0,0:0,0:120,104:28,47:24,20:-,NM_001080473.1(MFSD2B) c.1313+83A>G:-,0.79:-,NOT_FOUND 2 24247146 . G . . NT END=24248301;NT GT ./. 2 24248328 . G . . NT END=24253802;NT GT ./. 2 24253661 rs137952507 CAG C 30 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CAG/0.9014,C/0.09864;NP=127;Gene=C2orf44/NM_001142319.1/0;CC=c.*319_*320delCT;VC=3UTR;Gene=C2orf44/NM_025203.2/1;CC=c.*140_*141delCT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:CAG,C:14:14:0:11:4,10:130,289:0.00,30.02:0.00,30.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.8,22.4:0,0:0,0:34,34:116,116:13,19:-,NM_025203.2(C2orf44) c.*140_*141delCT:-,NOT_FOUND:-,NOT_FOUND 2 24254033 . C . . NT END=24255698;NT GT ./. 2 24255817 . C . . NT END=24260546;NT GT ./. 2 24255862 rs10179142 C G 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3465;Gene=C2orf44/NM_001142319.1/0;CC=c.1819-1830G>C;VC=Intron;Gene=C2orf44/NM_025203.2/1;CC=c.1819-46G>C;VC=Intron;DM=C2orf44/DUF4613 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:5:0:0:14:448:51.47:10.98:40.49:1.00:1.00:1.00:60:35.5:0:0:134:16:10:NM_025203.2(C2orf44) c.1819-46G>C,NM_025203.2(C2orf44) c.1819-46G>C:1,1:0.999077,0.999077 2 24262060 rs3731620 G A 199 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.9016,A/0.09844;PC=1.000;Gene=C2orf44/NM_001142319.1/0;CC=c.305C>T;ProtCh=p.T102M;VC=Missense;Gene=C2orf44/NM_025203.2/1;CC=c.305C>T;ProtCh=p.T102M;VC=Missense;DM=C2orf44/DUF4613 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:93:0:0:64,70:2089,2194:199.12,0.00:101.98,0.00:97.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,6.7:0,0:0,0:79,59:71,89:27,35:NM_025203.2(C2orf44) c.305C>T (p.Thr102Met),-:0.09,-:0.118791,- 2 24262365 . C . . NT END=24272719;NT GT ./. 2 24272645 rs116520786 C T 99 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.8714,T/0.1286;PC=1.000;Gene=FKBP1B/NM_004116.3/0;CC=c.-75C>T;VC=5UTR;Gene=FKBP1B/NM_054033.2/1;CC=c.-75C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:59:0:0:32,35:1031,1028:0.00,99.31:0.00,52.25:0.00,47.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.8,38.9:0,0:0,0:39,48:107,103:23,19:-,NM_004116.3(FKBP1B) c.-75C>T:-,0.14:-,NOT_FOUND 2 24272657 rs111634163 C T 103 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.9054,T/0.09465;PC=0.036;Gene=FKBP1B/NM_004116.3/0;CC=c.-63C>T;VC=5UTR;Gene=FKBP1B/NM_054033.2/1;CC=c.-63C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:61:0:0:36,34:1049,1081:0.00,103.27:0.00,75.35:0.00,27.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.8,41.0:0,0:0,0:62,46:89,103:17,20:-,NM_004116.3(FKBP1B) c.-63C>T:-,0.09:-,NOT_FOUND 2 24272757 . G . . NT END=24276771;NT GT ./. 2 24276736 rs11125393 T C 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.7476,C/0.2524;Gene=FKBP1B/NM_004116.3/0;CC=c.38-36T>C;VC=Intron;Gene=FKBP1B/NM_054033.2/1;CC=c.38-36T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:28:0:0:17,22:546,644:51.16,0.00:37.15,0.00:14.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,18.6:0,0:0,0:37,48:112,101:24,29:NM_004116.3(FKBP1B) c.38-36T>C,-:0.23,-:0.328694,- 2 24276820 . G . . NT END=24283683;NT GT ./. 2 24283483 rs12988269 G T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.906,T/0.09405;Gene=FKBP1B/NM_004116.3/0;CC=c.86-201G>T;VC=Intron;Gene=FKBP1B/NM_054033.2/1;CC=c.86-201G>T;VC=Intron;DM=FKBP1B/FKBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G,T:8:7:0:0:1,3,4:11,98,130:0.54,0.00,12.80:0.54,0.00,9.42:0.00,0.00,3.38:0.00,0.00,0.87:0.00,0.00,0.99:0.00,0.00,0.67:60,60,60:96.0,42.7,32.5:0,0,0:0,0,0:19,95,65:129,56,80:0,25,35:-,NM_004116.3(FKBP1B) c.86-201G>T:-,0.08:-,NOT_FOUND 2 24283797 . G . . NT END=24285888;NT GT ./. 2 24283853 rs13016301 A T 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.906,T/0.09405;Gene=FKBP1B/NM_004116.3/0;CC=c.198+57A>T;VC=Intron;Gene=FKBP1B/NM_054033.2/1;CC=c.198+57A>T;VC=Intron;DM=FKBP1B/FKBP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:42:5:0:0:23,1,18:663,11,565:0.00,0.02,52.88:0.00,-0.02,6.61:0.00,0.03,46.27:0.00,0.00,1.00:0.00,0.00,0.93:0.00,0.00,1.00:60,60,60:3.5,28.0,40.9:0,0,0:0,0,0:98,39,118:53,112,32:31,0,29:-,NM_004116.3(FKBP1B) c.198+57A>T:-,0.08:-,NOT_FOUND 2 24286063 . A . . NT END=24290631;NT GT ./. 2 24290722 . C . . NT END=24291190;NT GT ./. 2 24291080 rs10194004 A G 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.9032,G/0.09685;Gene=SF3B6/NM_016047.3/1;CC=c.288+111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:27:0:0:14,14:410,390:0.00,37.10:0.00,30.19:0.00,6.91:0.00,1.00:0.00,1.00:0.00,0.96:60,60:7.6,34.3:0,0:0,0:29,40:121,110:22,30:-,NM_016047.3(SF3B14) c.288+111T>C:-,0.09:-,NOT_FOUND 2 24291330 . C . . NT END=24296945;NT GT ./. 2 24291445 rs72783611 C T 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8586,T/0.1414;PC=0.004;Gene=SF3B6/NM_016047.3/1;CC=c.150-116G>A;VC=Intron;DM=SF3B6/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:3:0:0:10,18:275,583:0.00,58.99:0.00,5.30:0.00,53.69:0.00,1.00:0.00,0.96:0.00,1.00:60,60:13.9,38.3:0,0:0,0:47,119:102,32:30,24:-,NM_016047.3(SF3B14) c.150-116G>A:-,0.14:-,NOT_FOUND 2 24297065 . C . . NT END=24299069;NT GT ./. 2 24299100 . C . . NT END=24300448;NT GT ./. 2 24300563 rs10209238 T C 155 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.906,C/0.09405;Gene=FAM228B/NM_001291328.1/0;CC=c.-290+724T>C;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_001206802.2/0;CC=c.688A>G;ProtCh=p.T230A;VC=Missense;Gene=TP53I3/NM_004881.4/1;CC=c.885A>G;ProtCh=p.Q295=;VC=Silent;Gene=TP53I3/NM_147184.3/0;CC=c.885A>G;ProtCh=p.Q295=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:118:74:0:0:49,69:1662,2184:154.79,0.00:84.17,0.00:70.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,5.6:0,0:0,0:75,73:74,71:37,35:NM_004881.4(TP53I3) c.885A>G (p.(=)),-:0.08,-:0.118022,- 2 24300632 . C . . NT END=24302313;NT GT ./. 2 24300740 rs10194831 C G 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.906,G/0.09405;PC=0.021;Gene=FAM228B/NM_001291328.1/0;CC=c.-290+901C>G;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_001206802.2/0;CC=c.620-109G>C;VC=Intron;Gene=TP53I3/NM_004881.4/1;CC=c.817-109G>C;VC=Intron;Gene=TP53I3/NM_147184.3/0;CC=c.817-109G>C;VC=Intron;DM=TP53I3/ADH_zinc_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:38:3:0:0:20,18:599,545:0.00,51.67:0.00,5.19:0.00,46.48:0.00,1.00:0.00,0.87:0.00,1.00:60,60:10.0,33.9:0,0:0,0:87,92:63,58:38,38:-,NM_004881.4(TP53I3) c.817-109G>C:-,0.08:-,NOT_FOUND 2 24302246 rs2303287 C T 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.8716,T/0.1284;Gene=FAM228B/NM_001291328.1/0;CC=c.-289-1500C>T;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_001206802.2/0;CC=c.619+1443G>A;VC=Intron;Gene=TP53I3/NM_004881.4/1;CC=c.816+68G>A;VC=Intron;Gene=TP53I3/NM_147184.3/0;CC=c.816+68G>A;VC=Intron;DM=TP53I3/ADH_zinc_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:31:29:0:0:18,1,12:578,12,326:0.00,0.12,29.49:0.00,0.15,25.15:0.00,-0.03,4.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.93:60,60,60:6.3,48.0,53.1:0,0,0:0,0,0:43,139,46:106,11,105:27,0,25:-,NM_004881.4(TP53I3) c.816+68G>A:-,0.13:-,NOT_FOUND 2 24302511 . C . . NT END=24303688;NT GT ./. 2 24303902 . C . . NT END=24305754;NT GT ./. 2 24305512 rs4149372 T G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7552,G/0.2448;Gene=FAM228B/NM_001291328.1/0;CC=c.-210+1687T>G;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_001206802.2/0;CC=c.406+243A>C;VC=Intron;Gene=TP53I3/NM_004881.4/1;CC=c.406+243A>C;VC=Intron;Gene=TP53I3/NM_147184.3/0;CC=c.406+243A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:197:22.56:22.56:0.00:1.00:1.00:0.00:60:53.8:0:0:39:112:20:NM_004881.4(TP53I3) c.406+243A>C,NM_004881.4(TP53I3) c.406+243A>C:0.23,0.23:NOT_FOUND,NOT_FOUND 2 24306023 . C . . NT END=24307058;NT GT ./. 2 24306107 rs71395187 C CT 41 sb;idl,rn VT=INS;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.8964,CT/0.1036;DB;DBA=NA;PAF=C/0.8964,CT/0.1036;DB;DBA=NA;PAF=C/0.8964,CT/0.1036;NP=1;NP=345;Gene=FAM228B/NM_001291328.1/0;CC=c.-210+2292dupT;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_001206802.2/0;CC=c.139-86dupA;VC=Intron;Gene=TP53I3/NM_004881.4/1;CC=c.139-86dupA;VC=Intron;Gene=TP53I3/NM_147184.3/0;CC=c.139-86dupA;VC=Intron;DM=TP53I3/ADH_N;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT,D:57:13:19:1:39,1,16,1:1102,31,570,31:0.00,1.53,41.13,1.53:0.00,-0.04,0.92,-0.04:0.00,1.57,40.22,1.57:0.00,0.00,1.00,0.00:0.00,0.00,0.96,0.00:0.00,0.00,1.00,0.00:60,60,60,60:13.7,56.0,14.8,0.0:0,0,3,0:0,0,0,0:111,5,97,123:29,146,53,28:28,0,26,0:-,NM_004881.4(TP53I3) c.139-86_139-85insA:-,NOT_FOUND:-,NOT_FOUND 2 24307197 . A . . NT END=24338452;NT GT ./. 2 24307250 rs36207095 G A 84 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.008;Gene=FAM228B/NM_001291328.1/0;CC=c.-210+3425G>A;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_004881.4/1;CC=c.-54C>T;VC=5UTR;Gene=TP53I3/NM_147184.3/0;CC=c.-5-49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:26:0:0:30,40:908,1262:84.36,0.00:20.19,0.00:64.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,70:48.9,21.1:0,0:0,0:101,101:48,44:24,27:NM_004881.4(TP53I3) c.-54C>T,-:0.13,-:NOT_FOUND,- 2 24307260 rs373254751 A ACAGGG 136 idl,nt VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.243;Gene=FAM228B/NM_001291328.1/0;CC=c.-210+3449_-210+3450insGCAGG;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_004881.4/1;CC=c.-65_-64insCCCTG;VC=5UTR;Gene=TP53I3/NM_147184.3/0;CC=c.-5-60_-5-59insCCCTG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,ACAGGG:55:23:50:0:13,1,41:373,14,1575:0.00,0.24,135.65:0.00,-0.03,21.23:0.00,0.27,114.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:24.1,72.0,42.4:0,0,9:0,0,0:139,110,97:10,40,50:3,0,21:-,NM_004881.4(TP53I3) c.-69_-65dupCCCTG:-,NOT_FOUND:-,NOT_FOUND 2 24307275 rs184590859 A G 12 end,nt VT=SNV;PN=G;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.002;Gene=FAM228B/NM_001291328.1/0;CC=c.-210+3450A>G;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=TP53I3/NM_004881.4/1;CC=c.-79T>C;VC=5UTR;Gene=TP53I3/NM_147184.3/0;CC=c.-5-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,G:54:14:0:0:49,5:1470,167:0.00,11.86:0.00,1.18:0.00,10.68:0.00,0.72:0.00,0.65:0.00,0.97:70,70:35.2,75.4:0,0:0,0:107,144:42,2:27,3:-,NM_004881.4(TP53I3) c.-79T>C:-,0.11:-,NOT_FOUND 2 24315794 rs55740240 GCA G,GCACACA 10 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:20:GCACACA,G:4:3:2:3:1,3:60,97:2.38,10.46:-1.59,5.13:3.97,5.33:0.00,0.78:0.00,0.94:0.00,0.97:60,60:79.0,13.7:1,0:0,0:60,63:90,76:21,6:chr2 g.24315795_24315796delCA (intergenic),chr2 g.24315795CA[3] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 24338428 rs1056123 T G 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.9034,G/0.09665;PC=0.002;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-19561T>G;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.*25A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:37:27:0:0:17,20:563,664:53.32,0.00:30.83,0.00:22.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,2.9:0,0:0,0:43,51:107,90:19,28:NM_199346.1(PFN4) c.*25A>C,-:0.08,-:0.119538,- 2 24338482 . C . . NT END=24342446;NT GT ./. 2 24342242 rs2303289 C G 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8714,G/0.1286;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-15747C>G;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.361+205G>C;VC=Intron;DM=PFN4/Profilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G:6:6:0:0:1,5:35,172:0.00,18.41:0.00,18.41:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,38.6:0,0:0,0:38,53:113,97:0,19:-,NM_199346.1(PFN4) c.361+205G>C:-,0.13:-,NOT_FOUND 2 24342505 rs1056122 T C 153 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.723,C/0.277;PC=1.000;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-15484T>C;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.303A>G;ProtCh=p.V101=;VC=Silent;DM=PFN4/Profilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:C,T:43:25:0:0:42,1:1347,13:152.81,0.00:61.59,0.00:91.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.3,0.0:0,0:0,0:71,136:78,13:29,0:NM_199346.1(PFN4) c.303A>G (p.(=)),NM_199346.1(PFN4) c.303A>G (p.(=)):0.26,0.26:0.318468,0.318468 2 24342532 rs1134516 G A 50 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.8716,A/0.1284;PC=0.047;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-15457G>A;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.276C>T;ProtCh=p.V92=;VC=Silent;DM=PFN4/Profilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:45:19:0:0:19,1,25:541,10,839:50.01,-0.05,0.00:14.14,-0.08,0.00:35.87,0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:75.4,190.0,28.4:0,0,0:0,0,0:99,85,64:52,66,75:27,0,36:NM_199346.1(PFN4) c.276C>T (p.(=)),-:0.11,-:0.149008,- 2 24342553 . C . . NT END=24344032;NT GT ./. 2 24343867 rs67397664 ACTTT A 21 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=ACTTT/0.9044,A/0.09565;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ACTTT/0.9044,A/0.09565;NP=348;PC=0.008;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-14116_-120-14113delTTTC;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.255+162_255+165delAAAG;VC=Intron;DM=PFN4/Profilin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTTT,A:17:16:0:8:10,7:290,227:0.00,21.04:0.00,17.75:0.00,3.29:0.00,0.98:0.00,1.00:0.00,0.61:60,60:25.8,3.1:0,0:0,0:80,52:70,97:38,40:-,NM_199346.1(PFN4) c.255+162_255+165delAAAG:-,0.08:-,NOT_FOUND 2 24344060 rs33913065 T G 100 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.8518,A/.,G/0.1482;PC=1.000;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-13929T>G;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.228A>C;ProtCh=p.A76=;VC=Silent;DM=PFN4/Profilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:54:0:0:37,34:1041,1127:99.94,0.00:51.32,0.00:48.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.8,10.2:0,0:0,0:77,82:73,61:36,26:NM_199346.1(PFN4) c.228A>C (p.(=)),-:0.15,-:0.168999,- 2 24344171 . C . . NT END=24345288;NT GT ./. 2 24345196 rs71397404 C CAAAA 10 idl,nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=26;NP=4;PC=0.145;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-12779_-120-12778insAAAA;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.117+92_117+93insTTTT;VC=Intron;DM=PFN4/Profilin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,CAAAA,D:13:15:6:1:8,4,1:251,184,32:0.00,10.33,2.26:0.00,10.33,2.26:0.00,0.00,0.00:0.00,0.76,0.00:0.00,0.76,0.00:0.00,0.00,0.00:60,60,60:23.6,35.0,76.0:0,2,0:0,0,0:98,46,36:52,104,115:38,20,0:-,NM_199346.1(PFN4) c.117+92_117+93insTTTT:-,NOT_FOUND:-,NOT_FOUND 2 24345406 . G . . NT END=24347231;NT GT ./. 2 24345562 rs7592020 C G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.906,G/0.09405;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-12427C>G;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=PFN4/NM_199346.2/1;CC=c.-12-145G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,G:9:0:0:0:5,4:169,131:0.00,12.32:0.00,0.00:0.00,12.32:0.00,0.85:0.00,0.00:0.00,0.85:60,60:5.2,51.0:0,0:0,0:127,100:24,50:6,23:-,NM_199346.1(PFN4) c.-12-145G>C:-,0.08:-,NOT_FOUND 2 24347093 rs73920010 A C 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.8716,C/0.1284;Gene=FAM228B/NM_001291328.1/0;CC=c.-120-10896A>C;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.-32-107A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:20:20:0:0:9,11:234,355:0.00,34.79:0.00,34.79:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:55.2,34.2:0,0:0,0:76,93:75,56:28,24:-,NM_001145710.1(FAM228B) c.-32-107A>C:-,0.11:-,NOT_FOUND 2 24347331 . G . . NT END=24357988;NT GT ./. 2 24358001 rs12329297 G C 47 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.9062,C/0.09385;PC=1.000;Gene=FAM228B/NM_001291328.1/0;CC=c.-108G>C;VC=5UTR;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.112G>C;ProtCh=p.E38Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:27:0:0:15,24:512,795:47.08,0.00:27.89,0.00:19.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,3.0:0,0:0,0:65,70:83,73:12,32:NM_001145710.1(FAM228B) c.112G>C (p.Glu38Gln),-:0.09,-:NOT_FOUND,- 2 24358058 . G . . NT END=24360778;NT GT ./. 2 24358160 rs12329043 A C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9044,C/0.09565;Gene=FAM228B/NM_001291328.1/0;CC=c.-52+103A>C;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.168+103A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,C:13:1:0:0:8,5:263,177:0.00,16.32:0.00,-0.11:0.00,16.43:0.00,0.91:0.00,0.59:0.00,0.91:60,60:1.4,37.2:0,0:0,0:115,81:35,70:27,35:-,NM_001145710.1(FAM228B) c.168+103A>C:-,0.08:-,NOT_FOUND 2 24358344 rs10187612 C T 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9044,A/.,T/0.09565;Gene=FAM228B/NM_001291328.1/0;CC=c.-52+287C>T;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.168+287C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:C,T:4:0:0:0:2,2:43,66:0.00,6.36:0.00,0.00:0.00,6.36:0.00,0.51:0.00,0.00:0.00,0.51:60,60:45.5,33.0:0,0:0,0:87,139:48,11:53,10:-,NM_001145710.1(FAM228B) c.168+287C>T:-,0.08:-,NOT_FOUND 2 24360971 . G . . NT END=24362239;NT GT ./. 2 24362321 . G . . NT END=24369617;NT GT ./. 2 24369674 rs11693860 C T 173 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.154,T/0.846;PC=0.657;Gene=FAM228B/NM_001291328.1/0;CC=c.87C>T;ProtCh=p.N29=;VC=Silent;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.498C>T;ProtCh=p.N166=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:T:46:34:0:0:46:1511:173.00:95.41:77.59:1.00:1.00:1.00:60:34.4:0:0:74:74:40:NM_001145710.1(FAM228B) c.498C>T (p.(=)),NM_001145710.1(FAM228B) c.498C>T (p.(=)):0.85,0.85:NOT_FOUND,NOT_FOUND 2 24369706 . G . . NT END=24369799;NT GT ./. 2 24369957 . G . . NT END=24384375;NT GT ./. 2 24370084 rs34273095 C T 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9309,T/0.06909;PC=0.007;Gene=FAM228B/NM_001291328.1/0;CC=c.275+128C>T;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.686+128C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:7:0:0:0:1,6:33,155:0.00,17.09:0.00,0.00:0.00,17.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,43.7:0,0:0,0:6,108:145,41:0,30:-,NM_001145710.1(FAM228B) c.686+128C>T:-,0.06:-,NOT_FOUND 2 24384424 rs4665667 T C 178 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.1861,C/0.8139;Gene=FAM228B/NM_001291328.1/0;CC=c.324T>C;ProtCh=p.P108=;VC=Silent;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.735T>C;ProtCh=p.P245=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A,C:48:31:0:0:1,47:11,1556:0.23,177.56:0.00,80.04:0.23,97.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:93.0,38.6:0,0:0,0:11,82:139,59:0,29:NM_001145710.1(FAM228B) c.735T>C (p.(=)),NM_001145710.1(FAM228B) c.735T>C (p.(=)):0.82,0.82:0.821507,0.821507 2 24384484 . G . . NT END=24387067;NT GT ./. 2 24386925 rs398104109 C CA 62 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8129,CA/0.1871,CAA/.;DB;DBA=NA;PAF=C/0.8129,CA/0.1871;DB;DBA=NA;PAF=C/0.8129,CA/0.1871;NP=80;PC=0.855;Gene=FAM228B/NM_001291328.1/0;CC=c.384-136dupA;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.795-136dupA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C,CA:20:19:19:0:1,19:25,548:0.00,62.12:0.00,59.47:0.00,2.65:0.00,1.00:0.00,1.00:0.00,0.97:60,70:58.0,14.5:0,0:0,0:37,39:110,110:0,34:NM_001145710.1(FAM228B) c.795-143_795-142insA,NM_001145710.1(FAM228B) c.795-143_795-142insA:0.19,0.19:NOT_FOUND,NOT_FOUND 2 24387178 rs397822939 G GC 306 PASS VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=922;PC=0.993;Gene=FAM228B/NM_001291328.1/0;CC=c.495dupC;ProtCh=p.R166Qfs*23;VC=FrameShiftIns;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.906dupC;ProtCh=p.R303Qfs*23;VC=FrameShiftIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G,GC:88:51:85:0:3,85:82,2715:0.00,306.49:0.00,126.98:0.00,179.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,7.9:0,0:0,0:146,74:2,74:3,29:NM_001145710.1(FAM228B) c.907dupC (p.Gln303Profs*38),NM_001145710.1(FAM228B) c.907dupC (p.Gln303Profs*38):0.95,0.95:0.969429,0.969429 2 24387206 . T . . NT END=24398349;NT GT ./. 2 24387404 rs558450779 TCACACGATGAGGGTGCCCCCTGGTGGAGC T 9 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TCACACGATGAGGGTGCCCCCTGGTGGAGC/0.5996,T/0.4004;DB;DBA=NA;PAF=TCACACGATGAGGGTGCCCCCTGGTGGAGC/0.5996,T/0.4004;NP=292;PC=0.053;Gene=FAM228B/NM_001291328.1/0;CC=c.520+256_520+284delAGCCACACGATGAGGGTGCCCCCTGGTGG;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.931+256_931+284delAGCCACACGATGAGGGTGCCCCCTGGTGG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:TCACACGATGAGGGTGCCCCCTGGTGGAGC,T:13:0:0:4:9,4:306,105:0.00,8.87:0.00,0.00:0.00,8.87:0.00,0.79:0.00,0.00:0.00,0.79:60,70:8.3,25.5:0,0:0,0:91,31:56,102:11,6:-,NM_001145710.1(FAM228B) c.932+201_932+229delCACACGATGAGGGTGCCCCCTGGTGGAGC:-,NOT_FOUND:-,NOT_FOUND 2 24387532 rs36101491 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8165,T/0.1835;Gene=FAM228B/NM_001291328.1/0;CC=c.520+328C>T;VC=Intron;Gene=FAM228B/NR_111929.1/0;VC=NonCoding;Gene=FAM228B/NM_001145710.1/1;CC=c.931+328C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:137:15.61:0.00:15.61:1.00:0.00:1.00:70:34.2:0:0:124:15:6:NM_001145710.1(FAM228B) c.932+328C>T,NM_001145710.1(FAM228B) c.932+328C>T:0.18,0.18:NOT_FOUND,NOT_FOUND 2 24398281 rs2042467 T G 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.1454,G/0.8546;Gene=FAM228A/NM_001040710.2/1;CC=c.-14-55T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:27:0:0:29:850:98.65:71.31:27.34:1.00:1.00:1.00:60:35.3:0:0:32:118:26:NM_001040710.1(FAM228A) c.-14-55T>G,NM_001040710.1(FAM228A) c.-14-55T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 24398443 . G . . NT END=24398814;NT GT ./. 2 24399089 . G . . NT END=24400670;NT GT ./. 2 24399222 rs66807709 T TA 24 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1767,TA/0.8233;DB;DBA=NA;PAF=T/0.1767,TA/0.8233,TT/.;NP=3;PC=0.080;Gene=FAM228A/NM_001040710.2/1;CC=c.93+788dupA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:T,TA:9:0:7:0:2,7:56,229:0.00,24.17:0.00,0.00:0.00,24.17:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.0,0.0:0,0:0,0:141,95:7,54:2,21:-,NM_001040710.1(FAM228A) c.93+780_93+781insA:-,0.83:-,NOT_FOUND 2 24400740 . G . . NT END=24401979;NT GT ./. 2 24400769 rs55661701 A C 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.064;Gene=FAM228A/NM_001040710.2/1;CC=c.162+30A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:11:0:0:22:740:84.47:24.72:59.75:1.00:1.00:1.00:60:37.1:0:0:90:52:36:NM_001040710.1(FAM228A) c.162+30A>C,NM_001040710.1(FAM228A) c.162+30A>C:0.15,0.15:0.173596,0.173596 2 24401805 rs7604097 G C 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8019,C/0.1981;PC=0.010;Gene=FAM228A/NM_001040710.2/1;CC=c.162+1066G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:34.2:0:0:26:124:3:NM_001040710.1(FAM228A) c.162+1066G>C,NM_001040710.1(FAM228A) c.162+1066G>C:0.2,0.2:NOT_FOUND,NOT_FOUND 2 24402127 rs112599829 C CAA 129 PASS VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=120;PC=0.006;Gene=FAM228A/NM_001040710.2/1;CC=c.162+1388_162+1389insAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:CAA:35:24:35:0:35:1125:129.18:64.06:65.12:1.00:1.00:1.00:70:3.5:0:0:79:71:33:NM_001040710.1(FAM228A) c.162+1388_162+1389insAA,NM_001040710.1(FAM228A) c.162+1388_162+1389insAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 24402167 . G . . NT END=24406153;NT GT ./. 2 24406242 . G . . NT END=24406363;NT GT ./. 2 24406515 . G . . NT END=24411313;NT GT ./. 2 24411555 . g . . NT END=24413280;NT GT ./. 2 24413298 rs2288073 A G 356 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.7857,G/0.2143;Gene=FAM228A/NM_001040710.2/1;CC=c.419A>G;ProtCh=p.Y140C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:96:79:0:0:96:3101:355.69:240.56:115.14:1.00:1.00:1.00:60:39.2:0:0:58:90:34:NM_001040710.1(FAM228A) c.419A>G (p.Tyr140Cys),NM_001040710.1(FAM228A) c.419A>G (p.Tyr140Cys):0.22,0.22:0.250757,0.250757 2 24413595 rs2288074 C T 588 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=C/0.863,T/0.137;Gene=FAM228A/NM_001040710.2/1;CC=c.*95C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:162:106:0:0:162:5113:588.21:293.55:294.65:1.00:1.00:1.00:60:39.8:0:0:66:78:38:NM_001040710.1(FAM228A) c.*95C>T,NM_001040710.1(FAM228A) c.*95C>T:0.16,0.16:NOT_FOUND,NOT_FOUND 2 24414400 rs13387930 A G 187 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.7923,G/0.2077;PC=0.002;Gene=FAM228A/NM_001040710.2/1;CC=c.*900A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G:50:19:0:0:50:1630:186.81:40.06:146.75:1.00:1.00:1.00:60:40.8:0:0:104:34:23:NM_001040710.1(FAM228A) c.*900A>G,NM_001040710.1(FAM228A) c.*900A>G:0.21,0.21:NOT_FOUND,NOT_FOUND 2 24414415 . t . . NT END=24423448;NT GT ./. 2 24423282 rs112058782 T TGA 59 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=17;PC=0.002;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:G,T,TGA:19:19:17:0:1,1,17:11,32,522:0.42,0.00,58.50:0.42,0.00,58.50:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:11.0,12.0,17.8:0,1,0:0,0,0:132,50,53:14,101,97:0,0,20:chr2 g.24423282_24423283insGA (intergenic),chr2 g.24423282_24423283insGA (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 2 24423614 . A . . NT END=24426494;NT GT ./. 2 24426653 . C . . NT END=24427113;NT GT ./. 2 24427288 . C . . NT END=24428082;NT GT ./. 2 24428167 . C . . NT END=24431105;NT GT ./. 2 24431184 rs2303291 C T 230 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.861,T/0.139;PC=1.000;Gene=ITSN2/NM_006277.2/1;CC=c.4600G>A;ProtCh=p.A1534T;VC=Missense;Gene=ITSN2/NM_019595.3/0;CC=c.4519G>A;ProtCh=p.A1507T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C,T:67:40:0:0:1,66:36,2012:0.00,230.22:0.00,95.31:0.00,134.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,42.9:0,0:0,0:88,93:62,52:0,29:NM_006277.2(ITSN2) c.4600G>A (p.Ala1534Thr),NM_006277.2(ITSN2) c.4600G>A (p.Ala1534Thr):0.16,0.16:0.180301,0.180301 2 24431189 . C . . NT END=24431968;NT GT ./. 2 24431463 rs9917402 T G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1294,G/0.8706;Gene=ITSN2/NM_006277.2/1;CC=c.4596-275A>C;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.4515-275A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:142:16.11:0.00:16.11:1.00:0.00:1.00:60:35.5:0:0:128:22:13:NM_006277.2(ITSN2) c.4596-275A>C,NM_006277.2(ITSN2) c.4596-275A>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 24432091 . C . . NT END=24432686;NT GT ./. 2 24432138 rs2303292 C T 228 nt VT=SNV;PN=A;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.8594,T/0.1406;Gene=ITSN2/NM_006277.2/1;CC=c.4474-48G>A;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.4393-48G>A;VC=Intron;DM=ITSN2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:T:63:29:0:0:63:1979:227.83:67.23:160.60:1.00:1.00:1.00:60:54.2:0:0:97:51:33:NM_006277.2(ITSN2) c.4474-48G>A,NM_006277.2(ITSN2) c.4474-48G>A:0.16,0.16:0.184146,0.184146 2 24432211 rs2303293 C T 134 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.1432,T/0.8568;Gene=ITSN2/NM_006277.2/1;CC=c.4474-121G>A;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.4393-121G>A;VC=Intron;DM=ITSN2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C,T:37:5:0:0:1,36:14,1183:0.00,133.60:0.00,13.38:0.00,120.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:135.0,61.3:0,0:0,0:70,98:45,51:0,35:NM_006277.2(ITSN2) c.4474-121G>A,NM_006277.2(ITSN2) c.4474-121G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 24432667 rs2303295 C G 105 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.1404,G/0.8596;Gene=ITSN2/NM_006277.2/1;CC=c.4473+20G>C;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.4392+20G>C;VC=Intron;DM=ITSN2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:30:30:0:0:30:906:104.89:87.45:17.45:1.00:1.00:1.00:60:38.5:0:0:39:109:26:NM_006277.2(ITSN2) c.4473+20G>C,NM_006277.2(ITSN2) c.4473+20G>C:0.86,0.86:0.840458,0.840458 2 24432839 rs2303296 A G 226 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.8588,G/0.1412;PC=0.001;Gene=ITSN2/NM_006277.2/1;CC=c.4321T>C;ProtCh=p.L1441=;VC=Silent;Gene=ITSN2/NM_019595.3/0;CC=c.4240T>C;ProtCh=p.L1414=;VC=Silent;DM=ITSN2/PH_13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:G:61:32:0:0:61:1971:226.02:89.42:136.61:1.00:1.00:1.00:60:53.2:0:0:78:64:41:NM_006277.2(ITSN2) c.4321T>C (p.(=)),NM_006277.2(ITSN2) c.4321T>C (p.(=)):0.16,0.16:0.184376,0.184376 2 24432903 . C . . NT END=24433648;NT GT ./. 2 24432937 rs2303297 C T 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.8592,A/.,T/0.1408;Gene=ITSN2/NM_006277.2/1;CC=c.4258-35G>A;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.4177-35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:11:0:0:30:916:105.83:34.38:71.44:1.00:1.00:1.00:60:80.1:0:0:112:35:23:NM_006277.2(ITSN2) c.4258-35G>A,NM_006277.2(ITSN2) c.4258-35G>A:0.16,0.16:0.184453,0.184453 2 24433483 . C CA 14 end,rn VT=INS;SST=Single;DP=14;Gene=ITSN2/NM_006277.2/1;CC=c.4257+165_4257+166insT;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.4176+165_4176+166insT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,CA,D:13:14:6:1:7,5,1:241,187,33:0.00,14.21,2.41:0.00,14.21,2.41:0.00,0.00,0.00:0.00,0.90,0.00:0.00,0.90,0.00:0.00,0.00,0.00:60,60,60:55.1,71.0,0.0:0,1,0:0,0,0:57,10,53:77,129,97:47,3,0:-,NM_006277.2(ITSN2) c.4257+165_4257+166insT:-,NOT_FOUND:-,NOT_FOUND 2 24433817 . C . . NT END=24435518;NT GT ./. 2 24435599 rs41281481 G A 114 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.9896,A/0.01038;PC=1.000;Gene=ITSN2/NM_006277.2/1;CC=c.4009C>T;ProtCh=p.R1337W;VC=Missense;Gene=ITSN2/NM_019595.3/0;CC=c.3928C>T;ProtCh=p.R1310W;VC=Missense;DM=ITSN2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:53:0:0:38,43:1206,1446:114.39,0.00:46.33,0.00:68.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,2.5:0,0:0,0:86,63:61,77:26,30:NM_006277.2(ITSN2) c.4009C>T (p.Arg1337Trp),-:0.01,-:0.030755,- 2 24435618 . C . . NT END=24438917;NT GT ./. 2 24435837 rs72795824 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8584,C/0.1416;PC=0.001;Gene=ITSN2/NM_006277.2/1;CC=c.3991-220A>G;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.3910-220A>G;VC=Intron;DM=ITSN2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:C,T:9:0:0:0:8,1:193,33:21.59,0.00:0.00,0.00:21.59,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.0,63.0:0,0:0,0:101,124:48,18:13,0:NM_006277.2(ITSN2) c.3991-220A>G,-:0.16,-:NOT_FOUND,- 2 24438712 rs74470633 A G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8562,G/0.1438;PC=0.056;Gene=ITSN2/NM_006277.2/1;CC=c.3990+206T>C;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.3909+206T>C;VC=Intron;DM=ITSN2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:177:20.52:20.52:0.00:1.00:1.00:0.00:60:38.8:0:0:67:82:34:NM_006277.2(ITSN2) c.3990+206T>C,NM_006277.2(ITSN2) c.3990+206T>C:0.16,0.16:NOT_FOUND,NOT_FOUND 2 24439102 . C . . NT END=24440775;NT GT ./. 2 24439276 rs13021828 G C 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6921,C/0.3079;PC=0.001;Gene=ITSN2/NM_006277.2/1;CC=c.3807-175C>G;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.3726-175C>G;VC=Intron;DM=ITSN2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:449:51.55:0.00:51.55:1.00:0.00:1.00:60:53.6:0:0:75:75:16:NM_006277.2(ITSN2) c.3807-175C>G,NM_006277.2(ITSN2) c.3807-175C>G:0.32,0.32:NOT_FOUND,NOT_FOUND 2 24440883 . C . . NT END=24443187;NT GT ./. 2 24440997 rs2551183 A T 61 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.03095,T/0.969;PC=0.001;Gene=ITSN2/NM_006277.2/1;CC=c.3700-115T>A;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.3619-115T>A;VC=Intron;DM=ITSN2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:1:0:0:17:530:61.05:1.99:59.07:1.00:1.00:1.00:60:35.0:0:0:118:33:19:NM_006277.2(ITSN2) c.3700-115T>A,NM_006277.2(ITSN2) c.3700-115T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 24443936 . C . . NT END=24468997;NT GT ./. 2 24469190 . C . . NT END=24469665;NT GT ./. 2 24469763 . C . . NT END=24471497;NT GT ./. 2 24471620 . C . . NT END=24471705;NT GT ./. 2 24471752 . C . . NT END=24475213;NT GT ./. 2 24475205 rs4450560 T C 151 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.001797,C/0.9982;NP=3467;Gene=ITSN2/NM_006277.2/1;CC=c.3120+9A>G;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.3039+9A>G;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.3120+9A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:33:0:0:40:1315:150.57:107.95:42.61:1.00:1.00:1.00:60:40.1:0:0:58:90:22:NM_006277.2(ITSN2) c.3120+9A>G,NM_006277.2(ITSN2) c.3120+9A>G:1,1:0.99877,0.99877 2 24475381 . C . . NT END=24477235;NT GT ./. 2 24477301 . C . . NT END=24480756;NT GT ./. 2 24480963 . C . . NT END=24483974;NT GT ./. 2 24484120 . C . . NT END=24484429;NT GT ./. 2 24484150 rs4665680 T C 109 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.02915,C/0.9708,G/.;Gene=ITSN2/NM_006277.2/1;CC=c.2538-31A>G;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.2457-31A>G;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.2538-31A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:9:0:0:28:956:108.95:21.82:87.13:1.00:1.00:1.00:60:38.9:0:0:101:37:24:NM_006277.2(ITSN2) c.2538-31A>G,NM_006277.2(ITSN2) c.2538-31A>G:0.92,0.92:0.977381,0.977381 2 24484612 . C . . NT END=24493539;NT GT ./. 2 24484840 rs67295128 GCATT G 18 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GCATT/0.02696,G/0.973;DB;DBA=NA;PAF=GCATT/0.02696,G/0.973;NP=163;PC=0.022;Gene=ITSN2/NM_006277.2/1;CC=c.2356-233_2356-230delAATG;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.2275-233_2275-230delAATG;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.2356-233_2356-230delAATG;VC=Intron;DM=ITSN2/SH3_9;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:GCATT,G:6:0:0:5:1,5:34,163:0.00,17.51:0.00,0.00:0.00,17.51:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,6.2:0,0:0,0:139,114:5,37:0,10:-,NM_006277.2(ITSN2) c.2356-233_2356-230delAATG:-,0.97:-,NOT_FOUND 2 24493638 . C . . NT END=24494634;NT GT ./. 2 24494811 . c . . NT END=24498581;NT GT ./. 2 24498719 . C . . NT END=24507631;NT GT ./. 2 24498839 rs4411652 T G 61 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.02696,G/0.973;Gene=ITSN2/NM_006277.2/1;CC=c.1945-121A>C;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.1864-121A>C;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.1945-121A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:G,T:17:1:0:0:16,1:550,10:61.18,0.00:1.83,0.00:59.36,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:40.2,0.0:0,0:0,0:102,6:48,144:27,0:NM_006277.2(ITSN2) c.1945-121A>C,NM_006277.2(ITSN2) c.1945-121A>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 24507713 . C . . NT END=24509080;NT GT ./. 2 24507757 rs566368308 ATTT A 12 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=ATTT/0.2602,A/0.7398;PC=1.000;Gene=ITSN2/NM_006277.2/1;CC=c.1864-48_1864-46delAAA;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.1863+1321_1863+1323delAAA;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.1864-48_1864-46delAAA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:ATTT,A:19:14:0:11:14,5:440,295:0.00,12.06:0.00,4.78:0.00,7.28:0.00,0.83:0.00,0.92:0.00,0.96:60,60:18.0,53.6:0,5:0,0:130,87:17,64:11,17:-,NM_006277.2(ITSN2) c.1864-48_1864-46delAAA:-,NOT_FOUND:-,NOT_FOUND 2 24509221 . C . . NT END=24516556;NT GT ./. 2 24509370 rs17733015 T C 47 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8452,C/0.1548;Gene=ITSN2/NM_006277.2/1;CC=c.1724-150A>G;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.1724-150A>G;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.1724-150A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:0:0:0:14:407:47.36:0.00:47.36:1.00:0.00:1.00:60:38.1:0:0:119:31:19:NM_006277.2(ITSN2) c.1724-150A>G,NM_006277.2(ITSN2) c.1724-150A>G:0.17,0.17:NOT_FOUND,NOT_FOUND 2 24516645 . C . . NT END=24518532;NT GT ./. 2 24518269 rs4665684 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.02855,A/0.9714;PC=0.023;Gene=ITSN2/NM_006277.2/1;CC=c.1635+264C>T;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.1635+264C>T;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.1635+264C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:161:18.88:18.88:0.00:1.00:1.00:0.00:60:64.8:0:0:86:64:15:NM_006277.2(ITSN2) c.1635+264C>T,NM_006277.2(ITSN2) c.1635+264C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 24518674 . C . . NT END=24521533;NT GT ./. 2 24518796 rs4233705 C T 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.02676,T/0.9732;PC=0.030;Gene=ITSN2/NM_006277.2/1;CC=c.1495-123G>A;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.1495-123G>A;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.1495-123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:0:0:0:13:411:47.30:0.00:47.30:1.00:0.00:1.00:60:32.5:0:0:99:52:33:NM_006277.2(ITSN2) c.1495-123G>A,NM_006277.2(ITSN2) c.1495-123G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 24521493 rs7559133 C T 125 nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.02676,T/0.9732;Gene=ITSN2/NM_006277.2/1;CC=c.1494+41G>A;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.1494+41G>A;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.1494+41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:31:0:0:34:1084:124.53:91.48:33.05:1.00:1.00:1.00:60:38.5:0:0:66:77:32:NM_006277.2(ITSN2) c.1494+41G>A,NM_006277.2(ITSN2) c.1494+41G>A:0.98,0.98:0.977933,0.977933 2 24521684 . C . . NT END=24522777;NT GT ./. 2 24521766 rs6707600 C T 72 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.02855,T/0.9714;Gene=ITSN2/NM_006277.2/1;CC=c.1345-83G>A;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.1345-83G>A;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.1345-83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:2:0:0:21:624:72.29:3.83:68.47:1.00:1.00:1.00:60:46.4:0:0:117:29:30:NM_006277.2(ITSN2) c.1345-83G>A,NM_006277.2(ITSN2) c.1345-83G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 24523041 . C . . NT END=24524022;NT GT ./. 2 24524109 . C . . NT END=24524833;NT GT ./. 2 24524725 rs72793213 A G 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.8464,G/0.1536;Gene=ITSN2/NM_006277.2/1;CC=c.995+109T>C;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.995+109T>C;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.995+109T>C;VC=Intron;DM=ITSN2/EF-hand_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:21:0:0:22:685:78.89:75.30:3.59:1.00:1.00:1.00:60:42.7:0:0:31:118:24:NM_006277.2(ITSN2) c.995+109T>C,NM_006277.2(ITSN2) c.995+109T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 2 24524958 rs7603997 C T 179 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.7079,T/0.2921;PC=0.991;Gene=ITSN2/NM_006277.2/1;CC=c.871G>A;ProtCh=p.V291I;VC=Missense;Gene=ITSN2/NM_019595.3/0;CC=c.871G>A;ProtCh=p.V291I;VC=Missense;Gene=ITSN2/NM_147152.2/0;CC=c.871G>A;ProtCh=p.V291I;VC=Missense;DM=ITSN2/EF-hand_4;DM=ITSN2/EF-hand_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:22:0:0:47:1565:178.87:57.90:120.97:1.00:1.00:1.00:60:37.0:0:0:67:79:29:NM_006277.2(ITSN2) c.871G>A (p.Val291Ile),NM_006277.2(ITSN2) c.871G>A (p.Val291Ile):0.3,0.3:0.361679,0.361679 2 24524972 . C . . NT END=24526667;NT GT ./. 2 24526732 . C . . NT END=24531485;NT GT ./. 2 24531626 . C . . NT END=24533152;NT GT ./. 2 24533250 . C . . NT END=24533357;NT GT ./. 2 24533562 . C . . NT END=24535080;NT GT ./. 2 24535245 . C . . NT END=24536328;NT GT ./. 2 24536393 . C . . NT END=24538000;NT GT ./. 2 24538095 . T . . NT END=24550920;NT GT ./. 2 24550867 rs67389058 CA C 67 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=294;PC=0.415;Gene=ITSN2/NM_006277.2/1;CC=c.31+53delT;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.31+53delT;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.31+53delT;VC=Intron;DM=ITSN2/EF-hand_4;DM=ITSN2/SH3_1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:CA,C:27:27:0:24:7,20:203,761:0.00,67.30:0.00,51.50:0.00,15.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,11.9:0,4:0,0:108,67:42,83:36,38:-,NM_006277.2(ITSN2) c.31+53delT:-,NOT_FOUND:-,NOT_FOUND 2 24550952 . G . . NT END=24881546;NT GT ./. 2 24557403 rs6737940 G A 62 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.02676,A/0.9732;PC=1.000;Gene=ITSN2/NM_006277.2/1;CC=c.-33-6419C>T;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.-33-6419C>T;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.-33-6419C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:16:0:0:17:537:61.75:54.71:7.03:1.00:1.00:1.00:60:44.9:0:0:32:115:22:NM_006277.2(ITSN2) c.-33-6419C>T,NM_006277.2(ITSN2) c.-33-6419C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 24557626 rs2702046 T C 160 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.02676,C/0.9732;PC=1.000;Gene=ITSN2/NM_006277.2/1;CC=c.-33-6642A>G;VC=Intron;Gene=ITSN2/NM_019595.3/0;CC=c.-33-6642A>G;VC=Intron;Gene=ITSN2/NM_147152.2/0;CC=c.-33-6642A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:27:0:0:41:1409:160.42:68.26:92.17:1.00:1.00:1.00:60:38.8:0:0:95:45:23:NM_006277.2(ITSN2) c.-33-6642A>G,NM_006277.2(ITSN2) c.-33-6642A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 24597815 rs7577645 T C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.02895,C/0.971;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:3:0:0:6:174:20.24:5.69:14.56:1.00:1.00:1.00:60:39.8:0:0:124:7:12:chr2 g.24597814T>C (intergenic),chr2 g.24597814T>C (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 2 24714064 . C CGGGCG 25 nt VT=INS;SST=Single;DP=8;PC=0.091;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,CGGGCG:8:8:7:0:1,7:35,229:0.00,24.93:0.00,24.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,0.0:0,0:0,0:122,36:21,115:0,9:-,chr2 g.24714064_24714065insGGGCG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 24812499 rs199524547 GGT G 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=6;PC=0.042;Gene=NCOA1/NM_003743.4/1;CC=c.-175+5103_-175+5104delGT;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.-175+5103_-175+5104delGT;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.-175+5103_-175+5104delGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GGT,G:4:4:0:2:2,2:70,66:0.00,6.35:0.00,3.17:0.00,3.17:0.00,0.51:0.00,0.51:0.00,0.51:60,60:0.0,0.0:0,0:0,0:132,90:18,48:2,19:-,NM_003743.4(NCOA1) c.-175+5071_-175+5072delGT:-,NOT_FOUND:-,NOT_FOUND 2 24881636 . G . . NT END=24888617;NT GT ./. 2 24888785 . G . . NT END=24896234;NT GT ./. 2 24888854 rs142101398 TTTA T 21 rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=TTTA/0.8764,T/0.1236;NP=11;PC=0.004;Gene=NCOA1/NM_003743.4/1;CC=c.256+91_256+93delATT;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.256+91_256+93delATT;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.256+91_256+93delATT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTA,T:25:2:0:9:17,8:516,268:0.00,21.42:0.00,-0.24:0.00,21.65:0.00,0.98:0.00,0.60:0.00,1.00:60,60:9.7,29.9:0,1:0,0:119,81:28,70:21,18:-,NM_003743.4(NCOA1) c.256+71_256+73delTTA:-,NOT_FOUND:-,NOT_FOUND 2 24896333 . G . . NT END=24905819;NT GT ./. 2 24896389 rs4665712 T G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4167,G/0.5833;Gene=NCOA1/NM_003743.4/1;CC=c.354+57T>G;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.354+57T>G;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.354+57T>G;VC=Intron;DM=NCOA1/PAS_11;DM=NCOA1/PAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:17:2:0:0:8,9:246,295:23.31,0.00:2.51,0.00:20.80,0.00:0.99,0.00:0.77,0.00:1.00,0.00:60,60:37.0,4.1:0,0:0,0:119,82:30,69:22,20:NM_003743.4(NCOA1) c.354+57T>G,-:0.59,-:NOT_FOUND,- 2 24905684 rs74260979 C CA 43 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.0613,CA/0.9387;DB;DBA=NA;PAF=NA;NP=1761;Gene=NCOA1/NM_003743.4/1;CC=c.355-136_355-135insA;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.355-136_355-135insA;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.355-136_355-135insA;VC=Intron;DM=NCOA1/PAS_11;DM=NCOA1/PAS;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:CA:12:12:12:0:12:368:42.52:42.52:0.00:1.00:1.00:0.00:60:6.8:0:0:41:109:27:NM_003743.4(NCOA1) c.355-136_355-135insA,NM_003743.4(NCOA1) c.355-136_355-135insA:0.95,0.95:NOT_FOUND,NOT_FOUND 2 24905927 rs11125744 G C 199 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.1935,C/0.8065,T/.;PC=1.000;Gene=NCOA1/NM_003743.4/1;CC=c.462G>C;ProtCh=p.T154=;VC=Silent;Gene=NCOA1/NM_147223.2/0;CC=c.462G>C;ProtCh=p.T154=;VC=Silent;Gene=NCOA1/NM_147233.2/0;CC=c.462G>C;ProtCh=p.T154=;VC=Silent;DM=NCOA1/PAS_11;DM=NCOA1/PAS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C:53:35:0:0:53:1740:199.22:86.14:113.08:1.00:1.00:1.00:60:39.4:0:0:62:85:30:NM_003743.4(NCOA1) c.462G>C (p.(=)),NM_003743.4(NCOA1) c.462G>C (p.(=)):0.84,0.84:0.786406,0.786406 2 24905998 . G . . NT END=24914349;NT GT ./. 2 24914125 rs2119120 C T 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1651,T/0.8349;Gene=NCOA1/NM_003743.4/1;CC=c.533-225C>T;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.533-225C>T;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.533-225C>T;VC=Intron;DM=NCOA1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:341:39.30:39.30:0.00:1.00:1.00:0.00:60:50.4:0:0:60:90:40:NM_003743.4(NCOA1) c.533-225C>T,NM_003743.4(NCOA1) c.533-225C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 24914530 . G . . NT END=24916120;NT GT ./. 2 24916217 . G . . NT END=24920526;NT GT ./. 2 24920668 . G . . NT END=24927954;NT GT ./. 2 24928103 . G . . NT END=24929436;NT GT ./. 2 24930758 . G . . NT END=24933799;NT GT ./. 2 24933689 rs7593430 A C 68 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1655,C/0.8345;Gene=NCOA1/NM_003743.4/1;CC=c.2419-111A>C;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.2419-111A>C;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.2419-111A>C;VC=Intron;DM=NCOA1/Nuc_rec_co-act GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:593:68.31:68.31:0.00:1.00:1.00:0.00:60:46.2:0:0:30:121:25:NM_003743.4(NCOA1) c.2419-111A>C,NM_003743.4(NCOA1) c.2419-111A>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 24933981 . G . . NT END=24949457;NT GT ./. 2 24949576 . G . . NT END=24951176;NT GT ./. 2 24951346 . G . . NT END=24952369;NT GT ./. 2 24952685 . G . . NT END=24962300;NT GT ./. 2 24952712 rs375818965 CT C 12 idl,rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=268;PC=0.003;Gene=NCOA1/NM_003743.4/1;CC=c.3201+41delT;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.3201+41delT;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.3201+41delT;VC=Intron;DM=NCOA1/DUF1518;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:CT,I,C:45:23:3:9:37,3,5:1246,85,295:0.00,5.29,12.10:0.00,-0.37,0.56:0.00,5.66,11.54:0.00,0.00,0.73:0.00,0.00,0.83:0.00,0.00,0.96:60,60,60:9.4,4.0,0.0:0,0,4:0,0,0:110,60,71:26,91,65:32,27,29:-,NM_003743.4(NCOA1) c.3201+29delT:-,NOT_FOUND:-,NOT_FOUND 2 24952740 rs11439247 C CT 118 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.09305,CT/0.9069;NP=2853;PC=0.001;Gene=NCOA1/NM_003743.4/1;CC=c.3201+56_3201+57insT;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.3201+56_3201+57insT;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.3201+56_3201+57insT;VC=Intron;DM=NCOA1/DUF1518;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:CT:32:9:32:0:32:1029:118.15:20.15:98.00:1.00:1.00:1.00:60:8.6:0:0:90:59:25:NM_003743.4(NCOA1) c.3201+56_3201+57insT,NM_003743.4(NCOA1) c.3201+56_3201+57insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 24962138 rs6739575 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1647,G/0.8353;Gene=NCOA1/NM_003743.4/1;CC=c.3202-163A>G;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.3202-163A>G;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.3202-163A>G;VC=Intron;DM=NCOA1/DUF1518 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:102:11.94:11.94:0.00:1.00:1.00:0.00:60:77.2:0:0:48:102:10:NM_003743.4(NCOA1) c.3202-163A>G,NM_003743.4(NCOA1) c.3202-163A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 24962403 . G . . NT END=24964652;NT GT ./. 2 24964495 rs17046513 A C 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.9323,C/0.06769;PC=0.029;Gene=NCOA1/NM_003743.4/1;CC=c.3304-158A>C;VC=Intron;Gene=NCOA1/NM_147223.2/0;CC=c.3304-158A>C;VC=Intron;Gene=NCOA1/NM_147233.2/0;CC=c.3304-158A>C;VC=Intron;DM=NCOA1/DUF1518 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:22:0:0:11,11:317,365:0.00,35.15:0.00,35.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.4,35.9:1,0:0,0:63,56:87,95:35,20:-,NM_003743.4(NCOA1) c.3304-158A>C:-,0.08:-,NOT_FOUND 2 24965056 . G . . NT END=24974850;NT GT ./. 2 24974945 rs11125763 T G 265 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.1639,G/0.8361;PC=1.000;Gene=NCOA1/NM_003743.4/1;CC=c.3801T>G;ProtCh=p.L1267=;VC=Silent;Gene=NCOA1/NM_147223.2/0;CC=c.3801T>G;ProtCh=p.L1267=;VC=Silent;Gene=NCOA1/NM_147233.2/0;CC=c.3801T>G;ProtCh=p.L1267=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:49:0:0:69:2325:265.34:132.41:132.93:1.00:1.00:1.00:60:52.6:0:0:81:69:37:NM_003743.4(NCOA1) c.3801T>G (p.(=)),NM_003743.4(NCOA1) c.3801T>G (p.(=)):0.86,0.86:0.81893,0.81893 2 24974958 rs1804645 C T 105 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.992,T/0.007987;PC=0.908;Gene=NCOA1/NM_003743.4/1;CC=c.3814C>T;ProtCh=p.P1272S;VC=Missense;Gene=NCOA1/NM_147223.2/0;CC=c.3814C>T;ProtCh=p.P1272S;VC=Missense;Gene=NCOA1/NM_147233.2/0;CC=c.3814C>T;ProtCh=p.P1272S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:38:0:0:29,35:941,1079:0.00,105.40:0.00,39.62:0.00,65.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.1,71.6:0,0:0,0:83,83:68,67:32,29:-,NM_003743.4(NCOA1) c.3814C>T (p.Pro1272Ser):-,0.01:-,0.021759 2 24975026 . G . . NT END=24980841;NT GT ./. 2 24981026 . G . . NT END=24985555;NT GT ./. 2 24985646 . G . . NT END=24990947;NT GT ./. 2 24991005 . G . . NT END=24991089;NT GT ./. 2 24991261 . C . . NT END=25013279;NT GT ./. 2 25013451 . C . . NT END=25015994;NT GT ./. 2 25013523 rs12471620 G C 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5685,C/0.4315;Gene=PTRHD1/NM_001013663.1/1;CC=c.253-73C>G;VC=Intron;DM=PTRHD1/PTH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:9:0:0:18,16:511,497:49.46,0.00:7.47,0.00:41.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,2.8:0,0:0,0:115,104:36,46:12,27:NM_001013663.1(PTRHD1) c.253-73C>G,-:0.44,-:NOT_FOUND,- 2 25016247 . C . . NT END=25016342;NT GT ./. 2 25016390 . G . . NT END=25016720;NT GT ./. 2 25016835 . G . . NT END=25022543;NT GT ./. 2 25022442 rs68095203 TA T 91 sb;idl,rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=582;PC=0.013;Gene=CENPO/NM_001199803.1/0;CC=c.29-89delA;VC=Intron;Gene=CENPO/NM_024322.2/1;CC=c.47-89delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:TA,T:27:29:0:28:1,26:30,878:0.00,91.48:0.00,89.62:0.00,1.86:0.00,1.00:0.00,1.00:0.00,0.93:60,60:10.0,28.3:0,2:0,0:94,42:57,108:0,22:NM_024322.2(CENPO) c.47-101delA,NM_024322.2(CENPO) c.47-101delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 25022598 rs1550116 A G 154 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.8676,G/0.1324;Gene=CENPO/NM_001199803.1/0;CC=c.83A>G;ProtCh=p.Q28R;VC=Missense;Gene=CENPO/NM_024322.2/1;CC=c.101A>G;ProtCh=p.Q34R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:90:70:0:0:38,52:1317,1560:0.00,154.04:0.00,90.94:0.00,63.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,36.7:0,0:0,0:47,46:101,102:33,24:-,NM_024322.2(CENPO) c.101A>G (p.Gln34Arg):-,0.15:-,0.135399 2 25022714 . G . . NT END=25037244;NT GT ./. 2 25037363 . G . . NT END=25038365;NT GT ./. 2 25038268 rs2082881 G A 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.345,A/0.655;Gene=CENPO/NM_001199803.1/0;CC=c.317-98G>A;VC=Intron;Gene=CENPO/NM_024322.2/1;CC=c.335-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:27:0:0:18,11:562,387:56.39,0.00:41.64,0.00:14.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,4.8:0,0:0,0:49,41:101,109:41,27:NM_024322.2(CENPO) c.335-98G>A,-:0.67,-:NOT_FOUND,- 2 25038626 . G . . NT END=25039514;NT GT ./. 2 25038876 rs934609 G C 12 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5537,C/0.4463;PC=0.003;Gene=CENPO/NM_001199803.1/0;CC=c.576+251G>C;VC=Intron;Gene=CENPO/NM_024322.2/1;CC=c.594+251G>C;VC=Intron;DM=CENPO/CENP-O GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,G:7:0:0:0:4,3:123,97:12.13,0.00:0.00,0.00:12.13,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:34.0,2.3:0,0:0,0:147,79:3,72:1,26:NM_024322.2(CENPO) c.594+251G>C,-:0.45,-:NOT_FOUND,- 2 25039687 . G . . NT END=25040538;NT GT ./. 2 25039804 rs2099505 G A 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.04533,A/0.9547;Gene=CENPO/NM_001199803.1/0;CC=c.748+118G>A;VC=Intron;Gene=CENPO/NM_024322.2/1;CC=c.766+118G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:0:0:0:19:601:69.10:0.00:69.10:1.00:0.00:1.00:60:42.3:0:0:98:52:27:NM_024322.2(CENPO) c.766+118G>A,NM_024322.2(CENPO) c.766+118G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 25040335 rs67615331 C CAAAAAAA 13 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.7418,CAAAAAA/.,CAAAAAAA/0.2582;DB;DBA=NA;PAF=C/0.7418,CAAAAA/.,CAAAAAAA/0.2582,CAAAAAAAAA/.;DB;DBA=NA;PAF=C/0.7418,CAAAAAAA/0.2582;NP=1;NP=10;PC=0.008;Gene=CENPO/NM_001199803.1/0;CC=c.749-200_749-194dupAAAAAAA;VC=Intron;Gene=CENPO/NM_024322.2/1;CC=c.767-200_767-194dupAAAAAAA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CAAAAAAA:4:7:7:0:4:222:13.34:13.34:0.00:0.90:0.90:0.00:60:136.2:3:0:53:96:17:NM_024322.2(CENPO) c.767-204_767-203insAAAAAAA,NM_024322.2(CENPO) c.767-204_767-203insAAAAAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 25040346 rs11680229 G A 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5545,A/0.4455;Gene=CENPO/NM_001199803.1/0;CC=c.749-193G>A;VC=Intron;Gene=CENPO/NM_024322.2/1;CC=c.767-193G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,G:15:15:0:0:10,5:293,159:29.88,0.00:29.88,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:79.0,16.6:0,0:0,0:61,6:90,145:36,6:NM_024322.2(CENPO) c.767-193G>A,-:0.43,-:NOT_FOUND,- 2 25040423 rs10178420 G A 76 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.3115,A/0.6885;Gene=CENPO/NM_001199803.1/0;CC=c.749-116G>A;VC=Intron;Gene=CENPO/NM_024322.2/1;CC=c.767-116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:41:0:0:27,19:769,651:76.07,0.00:62.20,0.00:13.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,7.6:0,0:0,0:46,37:97,114:26,23:NM_024322.2(CENPO) c.767-116G>A,-:0.69,-:NOT_FOUND,- 2 25040676 . T . . NT END=25042800;NT GT ./. 2 25042625 rs1044040 C G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1751,G/0.8249;Gene=CENPO/NM_001199803.1/0;CC=c.*438C>G;VC=3UTR;Gene=CENPO/NM_024322.2/1;CC=c.*438C>G;VC=3UTR;Gene=ADCY3/NM_004036.3/1;CC=c.*176G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:233:26.64:26.64:0.00:1.00:1.00:0.00:60:35.6:0:0:25:126:12:NM_004036.3(ADCY3) c.*176G>C,NM_004036.3(ADCY3) c.*176G>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 25042984 . C . . NT END=25043252;NT GT ./. 2 25043097 rs72792176 C T 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.9383,T/0.0617;Gene=CENPO/NM_001199803.1/0;CC=c.*910C>T;VC=3UTR;Gene=CENPO/NM_024322.2/1;CC=c.*910C>T;VC=3UTR;Gene=ADCY3/NM_004036.3/1;CC=c.3253-114G>A;VC=Intron;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:35:20:0:0:22,1,12:667,10,374:0.00,-0.04,33.52:0.00,0.09,16.63:0.00,-0.13,16.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.1,217.0,66.2:0,0,0:0,0,0:38,74,94:112,76,56:29,0,33:-,NM_024322.2(CENPO) c.*910C>T:-,0.07:-,NOT_FOUND 2 25043321 . C . . NT END=25043592;NT GT ./. 2 25043718 . C . . NT END=25044385;NT GT ./. 2 25044153 rs72792177 A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9385,G/0.0615;Gene=CENPO/NM_001199803.1/0;CC=c.*1966A>G;VC=3UTR;Gene=CENPO/NM_024322.2/1;CC=c.*1966A>G;VC=3UTR;Gene=ADCY3/NM_004036.3/1;CC=c.3127+233T>C;VC=Intron;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,G:9:8:0:0:5,4:159,143:0.00,13.52:0.00,13.78:0.00,-0.26:0.00,0.85:0.00,0.98:0.00,0.63:60,60:10.2,39.0:0,0:0,0:89,79:62,72:19,37:-,NM_024322.2(CENPO) c.*1966A>G:-,0.07:-,NOT_FOUND 2 25044510 . C . . NT END=25045379;NT GT ./. 2 25044754 rs3198665 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4273,G/0.5727;Gene=CENPO/NM_001199803.1/0;CC=c.*2567A>G;VC=3UTR;Gene=CENPO/NM_024322.2/1;CC=c.*2567A>G;VC=3UTR;Gene=ADCY3/NM_004036.3/1;CC=c.3004-245T>C;VC=Intron;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:4:0:0:0:2,2:64,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:13.0,103.5:0,0:0,0:87,85:63,66:30,14:-,NM_024322.2(CENPO) c.*2567A>G:-,0.54:-,NOT_FOUND 2 25044763 rs3198667 A G 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4273,G/0.5727;Gene=CENPO/NM_001199803.1/0;CC=c.*2576A>G;VC=3UTR;Gene=CENPO/NM_024322.2/1;CC=c.*2576A>G;VC=3UTR;Gene=ADCY3/NM_004036.3/1;CC=c.3004-254T>C;VC=Intron;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,G:4:0:0:0:2,2:41,72:0.00,6.97:0.00,0.00:0.00,6.97:0.00,0.51:0.00,0.00:0.00,0.51:60,60:13.0,103.5:0,0:0,0:96,94:54,57:30,14:-,NM_024322.2(CENPO) c.*2576A>G:-,0.57:-,NOT_FOUND 2 25045500 . C . . NT END=25046077;NT GT ./. 2 25046090 rs1127568 T C 372 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.3087,C/0.6913;Gene=ADCY3/NM_004036.3/1;CC=c.2871A>G;ProtCh=p.S957=;VC=Silent;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:107:81:0:0:107:3217:372.35:228.05:144.30:1.00:1.00:1.00:60:37.0:0:0:75:75:30:NM_004036.3(ADCY3) c.2871A>G (p.(=)),NM_004036.3(ADCY3) c.2871A>G (p.(=)):0.7,0.7:0.625404,0.625404 2 25046225 . C . . NT END=25047246;NT GT ./. 2 25046355 rs4665273 T C 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.4273,C/0.5727;Gene=ADCY3/NM_004036.3/1;CC=c.2737-131A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:6:0:0:13,21:367,650:33.05,0.00:4.93,0.00:28.12,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:34.0,7.6:0,0:0,0:80,101:70,50:48,30:NM_004036.3(ADCY3) c.2737-131A>G,-:0.57,-:NOT_FOUND,- 2 25046361 rs5829941 A ATT 33 idl,rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5381,AT/0.4619,ATT/.,ATTT/.;NP=25;NP=6;NP=7;PC=0.015;Gene=ADCY3/NM_004036.3/1;CC=c.2737-138_2737-137insAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATT:26:1:17:0:14,12:425,503:0.00,33.12:0.00,-0.11:0.00,33.22:0.00,1.00:0.00,0.59:0.00,1.00:60,60:14.2,32.2:0,5:0,0:119,83:32,67:24,35:-,NM_004036.3(ADCY3) c.2737-138_2737-137insAA:-,NOT_FOUND:-,NOT_FOUND 2 25046860 rs4665726 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5479,A/0.4521;Gene=ADCY3/NM_004036.3/1;CC=c.2736+387C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:A,G:5:5:0:0:3,2:100,18:10.07,0.00:10.07,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:55.3,112.0:0,0:0,0:16,49:134,101:1,39:NM_004036.3(ADCY3) c.2736+387C>T,-:0.46,-:NOT_FOUND,- 2 25047406 . C . . NT END=25048913;NT GT ./. 2 25047408 rs7604576 A G 162 nt VT=SNV;PN=T;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.4784,G/0.5216;PC=0.084;Gene=ADCY3/NM_004036.3/1;CC=c.2578-3T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:51:0:0:49,50:1519,1678:0.00,161.81:0.00,48.37:0.00,113.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,39.8:0,0:0,0:77,83:74,61:38,24:-,NM_004036.3(ADCY3) c.2578-3T>C:-,0.52:-,0.450254 2 25048847 rs2289090 A G 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.3403,G/0.6597;Gene=ADCY3/NM_004036.3/1;CC=c.2577+67T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:G:21:21:0:0:21:549:64.64:60.86:3.78:1.00:1.00:1.00:60:54.2:0:0:45:106:36:NM_004036.3(ADCY3) c.2577+67T>C,NM_004036.3(ADCY3) c.2577+67T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 2 25048999 . C . . NT END=25050414;NT GT ./. 2 25049159 rs934611 A G 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.04613,G/0.9539;Gene=ADCY3/NM_004036.3/1;CC=c.2496-164T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:367:41.95:0.00:41.95:1.00:0.00:1.00:60:34.8:0:0:91:58:32:NM_004036.3(ADCY3) c.2496-164T>C,NM_004036.3(ADCY3) c.2496-164T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 25050478 . C . . NT END=25050770;NT GT ./. 2 25050977 rs7566416 T C 532 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=T/0.3405,C/0.6595;Gene=ADCY3/NM_004036.3/1;CC=c.2226A>G;ProtCh=p.E742=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:137:102:0:0:137:4665:531.72:267.71:264.01:1.00:1.00:1.00:60:39.4:0:0:74:74:30:NM_004036.3(ADCY3) c.2226A>G (p.(=)),NM_004036.3(ADCY3) c.2226A>G (p.(=)):0.67,0.67:0.590727,0.590727 2 25051031 . C . . NT END=25053577;NT GT ./. 2 25051221 rs13005690 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5607,A/0.4393;Gene=ADCY3/NM_004036.3/1;CC=c.2173-191C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,G:18:0:0:0:5,13:136,426:11.37,0.00:0.00,0.00:11.37,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:47.4,11.5:0,0:0,0:77,99:74,40:27,28:NM_004036.3(ADCY3) c.2173-191C>T,-:0.45,-:NOT_FOUND,- 2 25053695 . C . . NT END=25054530;NT GT ./. 2 25053828 rs1056074 T C 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.7967,C/0.2033;Gene=ADCY3/NM_004036.3/1;CC=c.2056-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:262,308:25.07,0.00:0.00,0.00:25.07,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:29.1,35.4:0,0:0,0:102,81:49,68:37,21:NM_004036.3(ADCY3) c.2056-134A>G,-:0.2,-:NOT_FOUND,- 2 25054619 . C . . NT END=25057353;NT GT ./. 2 25057263 rs2278485 G A 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5879,A/0.4121;Gene=ADCY3/NM_004036.3/1;CC=c.1967+91C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:A:23:22:0:0:23:665:77.26:67.72:9.54:1.00:1.00:1.00:60:71.3:0:0:64:84:35:NM_004036.3(ADCY3) c.1967+91C>T,NM_004036.3(ADCY3) c.1967+91C>T:0.45,0.45:NOT_FOUND,NOT_FOUND 2 25057516 . C . . NT END=25057662;NT GT ./. 2 25057806 . C . . NT END=25059785;NT GT ./. 2 25059638 rs4665733 G C 123 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.4073,C/0.5927;Gene=ADCY3/NM_004036.3/1;CC=c.1662+148C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:C,T:33:32:0:0:32,1:1083,23:123.14,1.28:113.43,1.28:9.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,208.0:0,0:0,0:49,48:96,96:29,0:NM_004036.3(ADCY3) c.1662+148C>G,NM_004036.3(ADCY3) c.1662+148C>G:0.62,0.62:NOT_FOUND,NOT_FOUND 2 25059915 . C . . NT END=25061313;NT GT ./. 2 25061492 . C . . NT END=25061715;NT GT ./. 2 25061782 . C . . NT END=25062741;NT GT ./. 2 25061810 . A AT 10 idl,rn VT=INS;SST=Single;DP=41;PC=0.006;Gene=ADCY3/NM_004036.3/1;CC=c.1356-320_1356-319insA;VC=Intron;DM=ADCY3/Guanylate_cyc;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,AT,D:39:18:5:5:32,4,3:968,154,130:0.00,9.74,6.77:0.00,0.94,2.28:0.00,8.80,4.49:0.00,0.58,0.00:0.00,0.74,0.00:0.00,0.91,0.00:60,60,60:13.2,16.8,16.0:0,1,1:0,0,0:120,97,94:22,52,56:22,4,10:-,NM_004036.3(ADCY3) c.1356-320_1356-319insA:-,NOT_FOUND:-,NOT_FOUND 2 25062634 rs11125810 A G 108 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1699,G/0.8301;PC=0.001;Gene=ADCY3/NM_004036.3/1;CC=c.1355+108T>C;VC=Intron;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G,T:32:32:0:0:31,1:937,10:107.93,0.26:100.30,0.26:7.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,133.0:0,0:0,0:36,31:113,120:23,0:NM_004036.3(ADCY3) c.1355+108T>C,NM_004036.3(ADCY3) c.1355+108T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 25062901 . C . . NT END=25064127;NT GT ./. 2 25064079 rs2241757 G A 117 nt VT=SNV;PN=G;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.6282,A/0.3718;Gene=ADCY3/NM_004036.3/1;CC=c.1196+49C>T;VC=Intron;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:59:0:0:38,29:1189,919:117.09,0.00:78.00,0.00:39.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,13.5:0,0:0,0:45,54:100,93:31,26:NM_004036.3(ADCY3) c.1196+49C>T,-:0.4,-:0.25499,- 2 25064193 rs2241759 G A 414 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.4894,A/0.5106;Gene=ADCY3/NM_004036.3/1;CC=c.1131C>T;ProtCh=p.P377=;VC=Silent;DM=ADCY3/Guanylate_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:109:77:0:0:108,1:3637,5:413.89,0.00:205.72,0.00:208.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,74.0:0,0:0,0:53,111:96,40:34,0:NM_004036.3(ADCY3) c.1131C>T (p.(=)),NM_004036.3(ADCY3) c.1131C>T (p.(=)):0.52,0.52:0.446684,0.446684 2 25064256 . C . . NT END=25064424;NT GT ./. 2 25064537 . C . . NT END=25065122;NT GT ./. 2 25065254 . C . . NT END=25095438;NT GT ./. 2 25095589 . C . . NT END=25141181;NT GT ./. 2 25124945 rs375352898 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.019;Gene=ADCY3/NM_004036.3/1;CC=c.675+16237T>C;VC=Intron;DM=ADCY3/AC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G:4:2:0:0:2,2:57,68:0.00,6.55:0.00,1.74:0.00,4.81:0.00,0.51:0.00,0.79:0.00,0.51:60,60:42.5,34.0:0,0:0,0:124,107:19,2:4,41:-,NM_004036.3(ADCY3) c.675+16237T>C:-,NOT_FOUND:-,NOT_FOUND 2 25141538 rs11676272 A G 702 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=196;DB;DBA=NA;PAF=A/0.4331,G/0.5669;PC=0.799;Gene=ADCY3/NM_004036.3/1;CC=c.319T>C;ProtCh=p.S107P;VC=Missense;DM=ADCY3/AC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:196:129:0:0:195,1:6100,9:701.84,0.04:362.98,0.04:338.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,181.0:0,0:0,0:65,86:86,61:34,0:NM_004036.3(ADCY3) c.319T>C (p.Ser107Pro),NM_004036.3(ADCY3) c.319T>C (p.Ser107Pro):0.54,0.54:0.596648,0.596648 2 25141857 . A . . NT END=25170484;NT GT ./. 2 25170618 . C . . NT END=25174262;NT GT ./. 2 25174007 rs1439097 G C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.119,C/0.881;PC=0.009;Gene=DNAJC27/NM_001198559.1/0;CC=c.529-3390C>G;VC=Intron;Gene=DNAJC27/NM_016544.2/1;CC=c.689+256C>G;VC=Intron;DM=DNAJC27/DnaJ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:246:28.41:28.41:0.00:1.00:1.00:0.00:60:71.4:0:0:49:101:30:NM_016544.2(DNAJC27) c.689+256C>G,NM_016544.2(DNAJC27) c.689+256C>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 25174012 rs1439096 A C 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1546,C/0.8454;Gene=DNAJC27/NM_001198559.1/0;CC=c.529-3395T>G;VC=Intron;Gene=DNAJC27/NM_016544.2/1;CC=c.689+251T>G;VC=Intron;DM=DNAJC27/DnaJ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:235:26.84:26.84:0.00:1.00:1.00:0.00:60:75.1:0:0:44:107:21:NM_016544.2(DNAJC27) c.689+251T>G,NM_016544.2(DNAJC27) c.689+251T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 25174424 . C . . NT END=25176418;NT GT ./. 2 25176453 . CT C 9 rn VT=DEL;SST=Single;DP=46;NP=2;PC=0.002;Gene=DNAJC27/NM_001198559.1/0;CC=c.528+3458delA;VC=Intron;Gene=DNAJC27/NM_016544.2/1;CC=c.529-2031delA;VC=Intron;DM=DNAJC27/Ras;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CT,I,C:46:35:3:4:39,3,4:1236,100,130:0.00,6.74,9.13:0.00,5.90,5.99:0.00,0.84,3.14:0.00,0.00,0.57:0.00,0.00,0.88:0.00,0.00,0.82:60,60,60:13.8,4.0,13.5:0,0,0:0,0,0:60,96,46:86,55,104:29,12,15:-,NM_016544.2(DNAJC27) c.529-2031delA:-,NOT_FOUND:-,NOT_FOUND 2 25176505 . C . . NT END=25179911;NT GT ./. 2 25180035 . C . . NT END=25180678;NT GT ./. 2 25180844 . C . . NT END=25186273;NT GT ./. 2 25186344 . C . . NT END=25190079;NT GT ./. 2 25190163 . C . . NT END=25194686;NT GT ./. 2 25194741 rs7593864 G A 333 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.2871,A/0.7129;Gene=DNAJC27/NM_001198559.1/0;CC=c.33C>T;ProtCh=p.P11=;VC=Silent;Gene=DNAJC27/NM_016544.2/1;CC=c.33C>T;ProtCh=p.P11=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:93:68:0:0:90,1,2:2941,5,20:333.34,0.02,0.00:186.58,0.00,0.00:146.76,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.5,59.0,216.5:0,0,0:0,0,0:79,95,70:69,56,73:24,0,47:NM_016544.2(DNAJC27) c.33C>T (p.(=)),NM_016544.2(DNAJC27) c.33C>T (p.(=)):0.76,0.76:0.73789,0.73789 2 25194774 . G . . NT END=25265181;NT GT ./. 2 25265189 . G . . NT END=25265331;NT GT ./. 2 25265536 . G . . NT END=25314193;NT GT ./. 2 25302846 rs17744531 G A 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7792,A/0.2208;PC=1.000;Gene=EFR3B/NM_014971.1/1;CC=c.8-11348G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:12:0:0:19:612:70.19:46.82:23.36:1.00:1.00:1.00:60:44.6:0:0:55:96:36:NM_014971.1(EFR3B) c.8-11348G>A,NM_014971.1(EFR3B) c.8-11348G>A:0.26,0.26:NOT_FOUND,NOT_FOUND 2 25304287 rs17801121 C T 136 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8011,T/0.1989;PC=1.000;Gene=EFR3B/NM_014971.1/1;CC=c.8-9907C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:28:0:0:37:1184:135.98:81.38:54.60:1.00:1.00:1.00:60:34.8:0:0:53:98:31:NM_014971.1(EFR3B) c.8-9907C>T,NM_014971.1(EFR3B) c.8-9907C>T:0.24,0.24:NOT_FOUND,NOT_FOUND 2 25314271 . G . . NT END=25315871;NT GT ./. 2 25316000 . G . . NT END=25326505;NT GT ./. 2 25326657 . G . . NT END=25344541;NT GT ./. 2 25344664 . G . . NT END=25351051;NT GT ./. 2 25344833 rs76084257 G GT 23 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.018;Gene=EFR3B/NM_014971.1/1;CC=c.485+184_485+185insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:27:0:9:1:18,8,1:554,284,32:0.00,22.74,1.95:0.00,0.00,0.00:0.00,22.74,1.95:0.00,0.98,0.00:0.00,0.00,0.00:0.00,0.98,0.00:60,60,60:7.2,14.8,10.0:0,1,0:0,0,0:123,105,95:27,46,56:19,19,0:-,NM_014971.1(EFR3B) c.485+170_485+171insT:-,NOT_FOUND:-,NOT_FOUND 2 25351202 . G . . NT END=25352843;NT GT ./. 2 25352979 . G . . NT END=25353420;NT GT ./. 2 25353500 . G . . NT END=25354236;NT GT ./. 2 25354373 . G . . NT END=25354618;NT GT ./. 2 25354781 . G . . NT END=25355771;NT GT ./. 2 25355884 . G . . NT END=25356251;NT GT ./. 2 25356304 . G . . NT END=25358335;NT GT ./. 2 25358509 . G . . NT END=25359391;NT GT ./. 2 25359422 rs3731631 G A 51 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.7053,A/0.2947;PC=1.000;Gene=EFR3B/NM_014971.1/1;CC=c.1515G>A;ProtCh=p.L505=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:37:0:0:18,32:561,1028:50.51,0.00:29.15,0.00:21.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,8.2:0,0:0,0:82,80:68,56:18,40:NM_014971.1(EFR3B) c.1515G>A (p.(=)),-:0.33,-:0.301577,- 2 25359468 . G . . NT END=25360209;NT GT ./. 2 25360372 . G . . NT END=25361927;NT GT ./. 2 25362060 . G . . NT END=25364234;NT GT ./. 2 25364303 . G . . NT END=25366603;NT GT ./. 2 25366529 . TA T 9 rn VT=DEL;SST=Single;DP=46;NP=18;PC=0.004;Gene=EFR3B/NM_014971.1/1;CC=c.1923-64delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:A,C,G,TA,I,T:46:40:1:4:1,1,1,38,1,4:29,36,13,1197,29,130:1.36,2.05,-0.02,0.00,1.36,9.17:1.45,0.93,0.07,0.00,1.45,4.24:-0.09,1.12,-0.09,0.00,-0.09,4.93:0.00,0.00,0.00,0.00,0.00,0.57:0.00,0.00,0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.00,0.00,0.68:60,60,60,60,60,60:123.0,99.0,162.0,11.9,0.0,0.0:0,0,0,0,0,0:0,0,0,0,0,0:1,20,50,46,4,41:150,128,101,99,147,106:0,0,0,22,0,21:-,NM_014971.1(EFR3B) c.1923-74delA:-,NOT_FOUND:-,NOT_FOUND 2 25366732 . G . . NT END=25367828;NT GT ./. 2 25367921 . G . . NT END=25372562;NT GT ./. 2 25372612 . G . . NT END=25374782;NT GT ./. 2 25374890 . G . . NT END=25376580;NT GT ./. 2 25375105 rs3795955 T C 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2881,C/0.7119;Gene=EFR3B/NM_014971.1/1;CC=c.2298+216T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:407:46.84:0.00:46.84:1.00:0.00:1.00:60:42.8:0:0:80:71:46:NM_014971.1(EFR3B) c.2298+216T>C,NM_014971.1(EFR3B) c.2298+216T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 25376631 . G . . NT END=25377103;NT GT ./. 2 25377176 rs2164808 T C 103 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.1897,A/.,C/0.8103;PC=0.016;Gene=EFR3B/NM_014971.1/1;CC=c.2421T>C;ProtCh=p.Y807=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:47:0:0:33,33:1076,1036:103.41,0.00:48.85,0.00:54.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,18.7:0,0:0,0:83,84:47,49:21,29:NM_014971.1(EFR3B) c.2421T>C (p.(=)),-:0.8,-:0.642138,- 2 25377210 . A . . NT END=25383949;NT GT ./. 2 25383887 rs1042571 G A 116 nt VT=SNV;PN=G;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.8844,A/0.1156;PC=0.022;Gene=POMC/NM_000939.2/0;CC=c.*63C>T;VC=3UTR;Gene=POMC/NM_001035256.1/1;CC=c.*63C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:73:64:0:0:37,2,34:1201,22,1113:116.39,0.17,0.00:82.01,0.28,0.00:34.38,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.3,84.5,10.6:0,0,0:0,0,0:72,63,53:79,85,96:28,4,20:NM_001035256.1(POMC) c.*63C>T,-:0.13,-:NOT_FOUND,- 2 25384622 . C . . NT END=25387509;NT GT ./. 2 25387642 . C . . NT END=25457147;NT GT ./. 2 25387858 rs3039380 G GACC 28 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.07169,GACC/0.9283;NP=14;PC=0.003;Gene=POMC/NM_000939.2/0;CC=c.-20-198_-20-197insGGT;VC=Intron;Gene=POMC/NM_001035256.1/1;CC=c.-20-198_-20-197insGGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:GACC:8:0:8:0:8:246:28.41:0.00:28.41:1.00:0.00:1.00:60:15.1:0:0:91:59:21:NM_001035256.1(POMC) c.-20-198_-20-197insGGT,NM_001035256.1(POMC) c.-20-198_-20-197insGGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 25415896 rs376721848 G GTGTGTA 9 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=2;NP=2;NP=26;NP=30;NP=5;NP=8;NP=8;NP=83;NP=9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:G,GTGTGTA,D:6:6:6:1:2,3,1:71,196,33:0.00,9.15,2.72:0.00,1.04,-0.08:0.00,8.11,2.80:0.00,0.64,0.00:0.00,0.89,0.00:0.00,0.92,0.00:60,60,60:16.5,55.3,115.0:0,3,0:0,0,0:133,67,127:5,78,24:9,28,0:-,chr2 g.25415896_25415897insTGTGTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 25418603 rs4007312 GCACACACA G 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=6;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:GCACACACA,G:6:5:0:5:3,3:98,123:0.00,8.60:0.00,2.92:0.00,5.67:0.00,0.69:0.00,0.93:0.00,0.89:60,60:17.3,57.7:0,1:0,0:102,36:44,114:18,17:-,chr2 g.25418604_25418611delCACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 25457290 . C . . NT END=25458575;NT GT ./. 2 25458546 rs2304429 C T 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.6392,T/0.3608;Gene=DNMT3A/NM_153759.3/0;CC=c.2030+30G>A;VC=Intron;Gene=DNMT3A/NM_022552.4/0;CC=c.2597+30G>A;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.2597+30G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:28:0:0:19,14:592,471:0.00,44.01:0.00,29.35:0.00,14.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.3,36.6:0,0:0,0:54,51:97,99:19,23:-,NM_153759.3(DNMT3A) c.2030+30G>A:-,0.4:-,0.455636 2 25458695 . C . . NT END=25459804;NT GT ./. 2 25459875 . C . . NT END=25461998;NT GT ./. 2 25462085 . C . . NT END=25463170;NT GT ./. 2 25463320 . C . . NT END=25463508;NT GT ./. 2 25463483 rs2289195 G A 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.641,A/0.359;Gene=DNMT3A/NM_153759.3/0;CC=c.1606+26C>T;VC=Intron;Gene=DNMT3A/NM_022552.4/0;CC=c.2173+26C>T;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.2173+26C>T;VC=Intron;DM=DNMT3A/DNA_methylase;DM=DNMT3A/DNA_methylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:60:0:0:35,59:1143,1898:104.09,0.00:60.10,0.00:43.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,9.6:0,0:0,0:55,82:95,69:28,41:NM_153759.3(DNMT3A) c.1606+26C>T,-:0.38,-:0.401199,- 2 25463600 . C . . NT END=25464430;NT GT ./. 2 25464577 . C . . NT END=25466766;NT GT ./. 2 25466852 . C . . NT END=25467023;NT GT ./. 2 25466888 rs2289093 G T 315 nt VT=SNV;PN=A;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.3998,T/0.6002;PC=0.003;Gene=DNMT3A/NM_153759.3/0;CC=c.1285-37C>A;VC=Intron;Gene=DNMT3A/NM_022552.4/0;CC=c.1852-37C>A;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.1852-37C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:90:63:0:0:90:2725:315.19:186.51:128.69:1.00:1.00:1.00:60:38.2:0:0:85:62:39:NM_153759.3(DNMT3A) c.1285-37C>A,NM_153759.3(DNMT3A) c.1285-37C>A:0.65,0.65:0.679481,0.679481 2 25467208 . C . . NT END=25467408;NT GT ./. 2 25467522 . C . . NT END=25468121;NT GT ./. 2 25468202 . C . . NT END=25468888;NT GT ./. 2 25468934 . C . . NT END=25469028;NT GT ./. 2 25469179 . C . . NT END=25469488;NT GT ./. 2 25469502 rs2276598 C T 200 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=126;DB;DBA=NA;PAF=C/0.7762,T/0.2238;PC=0.997;Gene=DNMT3A/NM_153759.3/0;CC=c.699G>A;ProtCh=p.L233=;VC=Silent;Gene=DNMT3A/NM_022552.4/0;CC=c.1266G>A;ProtCh=p.L422=;VC=Silent;Gene=DNMT3A/NM_175629.2/1;CC=c.1266G>A;ProtCh=p.L422=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:126:100:0:0:63,63:2036,2081:0.00,200.24:0.00,114.27:0.00,85.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,42.6:0,0:0,0:56,65:87,84:31,27:-,NM_153759.3(DNMT3A) c.699G>A (p.(=)):-,0.24:-,0.204938 2 25469646 . C . . NT END=25469919;NT GT ./. 2 25469913 rs2276599 C T 304 nt VT=SNV;PN=A;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.386,T/0.614;Gene=DNMT3A/NM_153759.3/0;CC=c.555+7G>A;VC=Intron;Gene=DNMT3A/NM_022552.4/0;CC=c.1122+7G>A;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.1122+7G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:87:69:0:0:1,86:11,2640:0.14,304.31:0.14,192.63:0.00,111.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:237.0,39.9:0,0:0,0:29,52:122,95:0,38:NM_153759.3(DNMT3A) c.555+7G>A,NM_153759.3(DNMT3A) c.555+7G>A:0.66,0.66:0.686299,0.686299 2 25470028 . C . . NT END=25470459;NT GT ./. 2 25470619 . C . . NT END=25470905;NT GT ./. 2 25471122 . C . . NT END=25472525;NT GT ./. 2 25472594 . C . . NT END=25475062;NT GT ./. 2 25472784 rs11681447 C T 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3992,T/0.6008;PC=0.001;Gene=DNMT3A/NM_153759.3/0;CC=c.5-191G>A;VC=Intron;Gene=DNMT3A/NM_022552.4/0;CC=c.640-1663G>A;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.640-1663G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:344:39.64:0.00:39.64:1.00:0.00:1.00:60:39.6:0:0:110:40:17:NM_153759.3(DNMT3A) c.5-191G>A,NM_153759.3(DNMT3A) c.5-191G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 2 25475185 . g . . NT END=25497809;NT GT ./. 2 25475191 . T G 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;PC=0.040;Gene=DNMT3A/NM_022552.4/0;CC=c.640-4070A>C;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.640-4070A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,G,T:43:18:0:0:1,5,37:8,105,1023:-0.24,6.32,0.00:-0.04,-0.88,0.00:-0.21,7.20,0.00:0.00,0.75,0.00:0.00,0.81,0.00:0.00,0.90,0.00:60,60,60:44.0,145.8,32.8:0,0,0:0,0,0:119,49,129:32,65,19:0,36,11:NM_175629.2(DNMT3A) c.640-4070A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 25497957 . C . . NT END=25498368;NT GT ./. 2 25498413 . C . . NT END=25504320;NT GT ./. 2 25500909 rs55825862 G A,C 28 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=96 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:17:A,C:8:7:0:0:1,7:32,246:2.77,27.53:2.77,15.73:0.00,11.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,41.4:1,7:0,0:49,82:91,53:0,17:NM_175629.2(DNMT3A) c.449-2497C>T,NM_175629.2(DNMT3A) c.449-2497C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 25500911 rs62129158 C CACAAACAG 13 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=59;NP=9;Gene=DNMT3A/NM_022552.4/0;CC=c.449-2500_449-2499insCTGTTTGT;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.449-2500_449-2499insCTGTTTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CACAAACAG:4:7:8:0:4:253:13.01:3.13:9.88:0.87:0.99:0.96:60:82.8:4:0:85:50:17:NM_175629.2(DNMT3A) c.449-2500_449-2499insCTGTTTGT,NM_175629.2(DNMT3A) c.449-2500_449-2499insCTGTTTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 25504866 . c . . NT END=25505144;NT GT ./. 2 25505023 rs532858843 CT C 12 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3;Gene=DNMT3A/NM_022552.4/0;CC=c.448+286delA;VC=Intron;Gene=DNMT3A/NM_175629.2/1;CC=c.448+286delA;VC=Intron;Gene=DNMT3A/NM_175630.1/0;CC=c.*233delA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:CT,T,I,C:38:22:2:6:30,1,2,5:939,10,65,190:0.00,-0.12,4.19,11.75:0.00,-0.21,1.98,6.59:0.00,0.09,2.21,5.16:0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.83:60,60,60,60:25.6,80.0,0.0,17.4:0,0,0,1:0,0,0,0:66,43,70,80:84,108,81,71:28,0,48,13:-,NM_175629.2(DNMT3A) c.448+286delA:-,NOT_FOUND:-,NOT_FOUND 2 25505581 . C . . NT END=25523007;NT GT ./. 2 25523113 . C . . NT END=25536781;NT GT ./. 2 25537031 . C . . NT END=25537107;NT GT ./. 2 25537355 . A . . NT END=25537523;NT GT ./. 2 25537542 . G . . NT END=25564694;NT GT ./. 2 25564772 . C . . NT END=25602187;NT GT ./. 2 25602142 rs2304426 G A 115 nt VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.5168,A/0.4832;PC=0.004;Gene=DTNB/NM_001256308.1/0;CC=c.*29+17C>T;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.*29+17C>T;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.*29+17C>T;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.*29+17C>T;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.*29+17C>T;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.*29+17C>T;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.*29+17C>T;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.*29+17C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:83:0:0:38,56:1244,1858:114.98,0.00:79.38,0.00:35.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,5.0:0,0:0,0:42,41:103,98:23,28:NM_021907.4(DTNB) c.*29+17C>T,-:0.47,-:0.640735,- 2 25602193 . C . . NT END=25606704;NT GT ./. 2 25602450 rs2304428 A G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.47,G/0.53;PC=0.001;Gene=DTNB/NM_001256308.1/0;CC=c.1634-258T>C;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.1805-258T>C;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.1859-258T>C;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.1880-258T>C;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.1790-258T>C;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.1700-258T>C;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.1826-258T>C;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.1679-258T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,G:12:0:0:0:7,5:176,123:0.00,11.12:0.00,0.00:0.00,11.12:0.00,0.92:0.00,0.00:0.00,0.92:60,60:1.6,67.4:0,0:0,0:125,118:26,32:23,24:-,NM_021907.4(DTNB) c.1880-258T>C:-,0.51:-,NOT_FOUND 2 25606295 rs10205701 C A 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4768,A/0.5232;Gene=DTNB/NM_001256308.1/0;CC=c.1633+3863G>T;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.1804+3863G>T;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.1858+410G>T;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.1879+410G>T;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.1789+410G>T;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.1699+410G>T;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.1825+3863G>T;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.1678+410G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,C:4:4:0:0:2,2:69,64:6.65,0.00:6.65,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:34.5,0.0:0,0:0,0:22,42:127,109:14,20:NM_021907.4(DTNB) c.1879+410G>T,-:0.51,-:NOT_FOUND,- 2 25606759 . C . . NT END=25608895;NT GT ./. 2 25608947 rs77707502 G A 107 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.9736,A/0.02636;Gene=DTNB/NM_001256308.1/0;CC=c.1633+1211C>T;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.1804+1211C>T;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.1804+1211C>T;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.1825+1211C>T;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.1735+2124C>T;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.1645+2124C>T;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.1825+1211C>T;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.1624+2124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:97:67:0:0:35,62:1175,1925:106.65,0.00:35.52,0.00:71.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,8.7:0,0:0,0:64,54:87,89:26,21:NM_021907.4(DTNB) c.1825+1211C>T,-:0.05,-:NOT_FOUND,- 2 25608982 . C . . NT END=25610157;NT GT ./. 2 25610248 . C . . NT END=25611070;NT GT ./. 2 25611231 . C . . NT END=25642383;NT GT ./. 2 25642405 . C . . NT END=25650403;NT GT ./. 2 25650501 . C . . NT END=25655754;NT GT ./. 2 25655075 rs60610400 T TACACAC 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=6;NP=7;PC=0.005;Gene=DTNB/NM_001256308.1/0;CC=c.1286+679_1286+680insGTGTGT;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.1457+679_1457+680insGTGTGT;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.1457+679_1457+680insGTGTGT;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.1457+679_1457+680insGTGTGT;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.1457+679_1457+680insGTGTGT;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.1367+679_1367+680insGTGTGT;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.1457+679_1457+680insGTGTGT;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.1367+679_1367+680insGTGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TACACAC:3:3:4:0:3:132:10.96:7.25:3.70:0.85:0.99:0.99:60:44.0:1:0:50:83:18:NM_021907.4(DTNB) c.1457+679_1457+680insGTGTGT,NM_021907.4(DTNB) c.1457+679_1457+680insGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 25655869 . C . . NT END=25656778;NT GT ./. 2 25656865 . C . . NT END=25674416;NT GT ./. 2 25656880 rs1395949 C G 68 nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.1837,A/.,G/0.8163,T/.;PC=0.073;Gene=DTNB/NM_001256308.1/0;CC=c.1087-16G>C;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.1258-16G>C;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.1258-16G>C;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.1258-16G>C;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.1258-16G>C;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.1168-16G>C;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.1258-16G>C;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.1168-16G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:68:38:0:0:44,24:1432,754:0.00,67.67:0.00,17.04:0.00,50.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,38.2:0,0:0,0:95,127:45,20:15,18:-,NM_021907.4(DTNB) c.1258-16G>C:-,0.84:-,0.905695 2 25674505 . C . . NT END=25678273;NT GT ./. 2 25678364 . C . . NT END=25705664;NT GT ./. 2 25705428 rs6751254 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6522,C/0.3478;PC=0.003;Gene=DTNB/NM_001256308.1/0;CC=c.908+237A>G;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.1079+237A>G;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.1079+237A>G;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.1079+237A>G;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.1079+237A>G;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.1079+237A>G;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.1079+237A>G;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.1079+237A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,T:6:6:0:0:3,3:103,85:9.93,0.00:9.93,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:34.3,0.0:0,0:0,0:26,49:125,102:13,26:NM_021907.4(DTNB) c.1079+237A>G,-:0.35,-:NOT_FOUND,- 2 25705743 . C . . NT END=25754341;NT GT ./. 2 25754467 . C . . NT END=25781060;NT GT ./. 2 25758097 rs500864 T C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2983,C/0.7017;PC=0.012;Gene=DTNB/NM_001256308.1/0;CC=c.706-3631A>G;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.877-3631A>G;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.877-3631A>G;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.877-3631A>G;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.877-3631A>G;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.877-3631A>G;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.877-3631A>G;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.877-3631A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:C,T:8:5:0:0:4,4:131,113:12.61,0.00:3.18,0.00:9.43,0.00:0.87,0.00:0.96,0.00:0.99,0.00:60,60:82.5,41.2:0,0:0,0:68,79:72,60:13,11:NM_021907.4(DTNB) c.877-3631A>G,-:0.66,-:NOT_FOUND,- 2 25758591 rs62130085 G C 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.7302,C/0.2698;PC=0.075;Gene=DTNB/NM_001256308.1/0;CC=c.706-4125C>G;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.877-4125C>G;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.877-4125C>G;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.877-4125C>G;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.877-4125C>G;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.877-4125C>G;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.877-4125C>G;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.877-4125C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:17:0:0:15,9:427,258:42.93,0.00:24.58,0.00:18.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.5,92.3:0,0:0,0:72,30:75,96:44,24:NM_021907.4(DTNB) c.877-4125C>G,-:0.27,-:NOT_FOUND,- 2 25758869 . A G 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;PC=0.012;Gene=DTNB/NM_001256308.1/0;CC=c.706-4403T>C;VC=Intron;Gene=DTNB/NM_001256304.1/0;CC=c.877-4403T>C;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.877-4403T>C;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.877-4403T>C;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.877-4403T>C;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.877-4403T>C;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.877-4403T>C;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.877-4403T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,C,G:23:13:0:0:18,1,4:567,13,90:0.00,0.19,6.40:0.00,0.41,5.89:0.00,-0.22,0.50:0.00,0.00,0.69:0.00,0.00,0.86:0.00,0.00,0.88:60,60,60:45.9,47.0,118.0:0,0,0:0,0,0:110,101,96:26,50,36:27,0,6:-,NM_021907.4(DTNB) c.877-4403T>C:-,NOT_FOUND:-,NOT_FOUND 2 25781277 . C . . NT END=25799706;NT GT ./. 2 25799874 . C . . NT END=25803589;NT GT ./. 2 25803696 . C . . NT END=25818954;NT GT ./. 2 25819110 . C . . NT END=25830104;NT GT ./. 2 25830191 . C . . NT END=25851039;NT GT ./. 2 25851254 . C . . NT END=25861882;NT GT ./. 2 25861964 . C . . NT END=25872890;NT GT ./. 2 25873092 . G . . NT END=25875462;NT GT ./. 2 25875401 . TA T 20 idl,rn VT=DEL;SST=Single;DP=41;NP=35;Gene=DTNB/NM_001256304.1/0;CC=c.67+61delT;VC=Intron;Gene=DTNB/NM_001256303.1/0;CC=c.67+61delT;VC=Intron;Gene=DTNB/NM_021907.4/1;CC=c.67+61delT;VC=Intron;Gene=DTNB/NM_033147.3/0;CC=c.67+61delT;VC=Intron;Gene=DTNB/NM_033148.3/0;CC=c.67+61delT;VC=Intron;Gene=DTNB/NM_183360.2/0;CC=c.67+61delT;VC=Intron;Gene=DTNB/NM_183361.2/0;CC=c.67+61delT;VC=Intron;DM=DTNB/EF-hand_2;DM=DTNB/EF-hand_2;DM=DTNB/EF-hand_2;DM=DTNB/EF-hand_2;DM=DTNB/EF-hand_2;DM=DTNB/EF-hand_2;DM=DTNB/EF-hand_2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TA,I,T:35:39:10:12:20,7,8:633,311,337:0.00,17.85,20.46:0.00,15.97,19.35:0.00,1.89,1.11:0.00,0.00,0.97:0.00,0.00,1.00:0.00,0.00,0.81:60,60,60:31.4,16.7,37.9:0,3,3:0,0,0:52,59,36:97,91,115:43,30,24:-,NM_021907.4(DTNB) c.67+61delT:-,NOT_FOUND:-,NOT_FOUND 2 25875530 . C . . NT END=25964897;NT GT ./. 2 25942422 rs71927082 TTG T 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;PC=0.001;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:TTG,T:5:4:0:5:1,4:10,127:0.00,13.58:0.00,10.49:0.00,3.09:0.00,0.96:0.00,1.00:0.00,0.99:60,60:82.0,3.0:0,0:0,0:112,51:39,73:0,20:-,chr2 g.25942423_25942424delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 25967346 . C . . NT END=25972564;NT GT ./. 2 25967804 rs71804631 CCACA C 10 sb;idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CCACA/0.5635,C/0.4365;DB;DBA=NA;PAF=CCACA/0.5635,C/0.4365;NP=45;PC=0.008;Gene=ASXL2/NM_018263.4/1;CC=c.1861-463_1861-460delTGTG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:4:0:5:3:151:9.56:0.10:9.46:0.78:0.97:0.78:60:34.0:2:0:48:95:4:NM_018263.4(ASXL2) c.1861-463_1861-460delTGTG,NM_018263.4(ASXL2) c.1861-463_1861-460delTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 25973283 . C . . NT END=25976402;NT GT ./. 2 25976509 . C . . NT END=25978886;NT GT ./. 2 25978984 . C . . NT END=25982350;NT GT ./. 2 25982515 . C . . NT END=25990451;NT GT ./. 2 25990596 . C . . NT END=25991610;NT GT ./. 2 25991738 . C . . NT END=25994308;NT GT ./. 2 25994410 . C . . NT END=26022253;NT GT ./. 2 26022405 . C . . NT END=26029097;NT GT ./. 2 26029207 . C . . NT END=26068263;NT GT ./. 2 26068267 . C . . NT END=26068349;NT GT ./. 2 26068433 . C . . NT END=26101034;NT GT ./. 2 26101092 . G . . NT END=26151846;NT GT ./. 2 26151643 rs2072695 A T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4317,T/0.5683;Gene=KIF3C/NM_002254.6/1;CC=c.*204T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:36.8:0:0:42:109:3:NM_002254.6(KIF3C) c.*204T>A,NM_002254.6(KIF3C) c.*204T>A:0.52,0.52:NOT_FOUND,NOT_FOUND 2 26151941 . C . . NT END=26152173;NT GT ./. 2 26152347 . C . . NT END=26152823;NT GT ./. 2 26152933 . C . . NT END=26174657;NT GT ./. 2 26174775 . C . . NT END=26177135;NT GT ./. 2 26177255 . C . . NT END=26178409;NT GT ./. 2 26178533 . C . . NT END=26179211;NT GT ./. 2 26179314 . C . . NT END=26203241;NT GT ./. 2 26203678 rs1465878 T C 439 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=3468;PC=0.674;Gene=KIF3C/NM_002254.6/1;CC=c.1109A>G;ProtCh=p.Q370R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:124:77:0:0:123,1:3820,11:438.66,0.00:230.98,0.00:207.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,149.0:0,2:0,0:72,45:77,101:38,0:NM_002254.6(KIF3C) c.=,NM_002254.6(KIF3C) c.=:1,1:0.999846,0.999846 2 26204787 . C . . NT END=26257477;NT GT ./. 2 26205081 rs1465877 A T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=20;PC=0.047;Gene=KIF3C/NM_002254.6/1;CC=c.-295T>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:106:12.50:0.00:12.50:1.00:0.00:1.00:60:80.0:0:0:69:81:22:NM_002254.6(KIF3C) c.=,NM_002254.6(KIF3C) c.=:1,1:NOT_FOUND,NOT_FOUND 2 26250881 rs71399344 T TTTTA 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2666,TTTTA/0.7334;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2666,TTTTA/0.7334;NP=284;PC=0.256;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TTTTA:4:4:3:0:1,3:31,97:0.00,10.15:0.00,10.15:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:32.0,0.0:0,0:0,0:140,23:11,126:0,10:-,NM_016131.4(RAB10) c.-749-u5848_-749-u5847insTTTA:-,0.73:-,NOT_FOUND 2 26251361 rs4665809 A G 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.2061,C/.,G/0.7939;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:33:0:0:23,27:696,882:0.00,86.12:0.00,43.83:0.00,42.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.2,37.1:0,0:0,0:35,68:110,83:19,40:-,NM_016131.4(RAB10) c.-749-u5368A>G:-,0.8:-,NOT_FOUND 2 26257249 rs4665300 C G 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=132;PC=1.000;Gene=RAB10/NM_016131.4/1;CC=c.-229C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:502:57.82:57.82:0.00:1.00:1.00:0.00:60:78.4:0:0:38:113:24:NM_016131.4(RAB10) c.-228C>G,NM_016131.4(RAB10) c.-228C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 26257250 rs4665301 G C 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=127;PC=1.000;Gene=RAB10/NM_016131.4/1;CC=c.-228G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:551:62.73:62.73:0.00:1.00:1.00:0.00:60:78.4:0:0:39:112:24:NM_016131.4(RAB10) c.-229G>C,NM_016131.4(RAB10) c.-229G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 26257605 . G . . NT END=26321530;NT GT ./. 2 26321526 rs11678157 T C 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.2434,C/0.7566;PC=0.998;Gene=RAB10/NM_016131.4/1;CC=c.128-5T>C;VC=Intron;DM=RAB10/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,T:12:12:0:0:8,4:266,129:27.10,0.00:17.16,0.00:9.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,3.5:0,0:0,0:93,24:53,113:10,6:NM_016131.4(RAB10) c.128-5T>C,-:0.78,-:0.733354,- 2 26321592 . G . . NT END=26332636;NT GT ./. 2 26332776 . G . . NT END=26350012;NT GT ./. 2 26350103 . G . . NT END=26350718;NT GT ./. 2 26350136 rs2289022 G T 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.2143,T/0.7857;Gene=RAB10/NM_016131.4/1;CC=c.417+34G>T;VC=Intron;DM=RAB10/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:8:0:0:10,15:343,498:0.00,49.65:0.00,11.75:0.00,37.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,38.9:0,0:0,0:105,117:45,34:9,18:-,NM_016131.4(RAB10) c.417+34G>T:-,0.8:-,0.755152 2 26350821 . G . . NT END=26357806;NT GT ./. 2 26357748 rs2243834 G T 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2165,T/0.7835;PC=0.006;Gene=RAB10/NM_016131.4/1;CC=c.520-59G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:15:15:0:0:8,7:243,231:0.00,21.94:0.00,18.75:0.00,3.19:0.00,0.99:0.00,0.99:0.00,0.95:60,60:8.1,60.9:0,0:0,0:36,84:114,67:30,33:-,NM_016131.4(RAB10) c.520-59G>T:-,0.79:-,0.745291 2 26357891 . G . . NT END=26396089;NT GT ./. 2 26363042 . T TA 9 rn VT=INS;SST=Single;DP=15;NP=2;PC=0.471;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:T,TA:15:15:4:0:11,4:348,113:0.00,9.43:0.00,9.43:0.00,0.00:0.00,0.76:0.00,0.76:0.00,0.00:60,70:26.0,29.8:0,0:0,0:16,42:135,108:15,34:-,chr2 g.26363042_26363043insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 26363461 rs6709142 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1803,T/0.8197;PC=0.141 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:7:0:0:0:4,3:100,105:0.00,9.90:0.00,0.00:0.00,9.90:0.00,0.69:0.00,0.00:0.00,0.69:60,60:3.0,35.0:0,0:0,0:100,76:50,74:10,13:-,chr2 g.26363460C>T (intergenic):-,0.83:-,NOT_FOUND 2 26370659 rs377207930 A ATGTG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;NP=33;NP=4;PC=0.001;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,ATGTG:4:3:2:0:2,2:68,66:0.00,6.35:0.00,5.06:0.00,1.29:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,21.0:0,0:0,0:98,59:48,91:16,37:-,chr2 g.26370659_26370660insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 26396202 . G . . NT END=26399212;NT GT ./. 2 26398943 rs13432932 C T 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5645,T/0.4355;Gene=GAREM2/NM_001168241.1/0;CC=c.113-270C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:6:6:0:0:2,4:69,109:0.00,11.13:0.00,11.13:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:30.5,33.0:0,0:0,0:30,32:121,118:13,5:-,NM_001168241.1(FAM59B) c.113-270C>T:-,0.41:-,NOT_FOUND 2 26399214 rs4665830 G A 91 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.1883,A/0.8117;PC=1.000;Gene=GAREM2/NM_001168241.1/0;CC=c.114G>A;ProtCh=p.G38=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:54:0:0:29,36:969,1089:91.36,0.00:59.68,0.00:31.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,11.0:0,0:0,0:54,58:96,87:23,37:NM_001168241.1(FAM59B) c.114G>A (p.(=)),-:0.81,-:0.735436,- 2 26399354 . G . . NT END=26403765;NT GT ./. 2 26399481 rs11675057 C G 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.5619,G/0.4381;Gene=GAREM2/NM_001168241.1/0;CC=c.253+128C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:2:0:0:15,18:482,610:0.00,59.71:0.00,5.42:0.00,54.29:0.00,1.00:0.00,0.83:0.00,1.00:60,60:2.9,42.5:0,0:0,0:98,104:53,46:23,31:-,NM_001168241.1(FAM59B) c.253+128C>G:-,0.42:-,NOT_FOUND 2 26403766 rs7585891 G A 333 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.1434,A/0.8566;PC=0.001;Gene=GAREM2/NM_001168241.1/0;CC=c.254-2070G>A;VC=Intron;Gene=GAREM2/NM_001191033.1/1;CC=c.-1575G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:88:79:0:0:88:2914:333.34:234.58:98.76:1.00:1.00:1.00:60:41.5:0:0:60:89:36:NM_001168241.1(FAM59B) c.254-2070G>A,NM_001168241.1(FAM59B) c.254-2070G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26404022 . g . . NT END=26404833;NT GT ./. 2 26404221 rs12611790 C T 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1444,T/0.8556;Gene=GAREM2/NM_001168241.1/0;CC=c.254-1615C>T;VC=Intron;Gene=GAREM2/NM_001191033.1/1;CC=c.-1120C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:248:28.61:0.00:28.61:1.00:0.00:1.00:60:47.9:0:0:102:36:15:NM_001168241.1(FAM59B) c.254-1615C>T,NM_001168241.1(FAM59B) c.254-1615C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26404775 rs4665832 A G 109 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.145,G/0.855;Gene=GAREM2/NM_001168241.1/0;CC=c.254-1061A>G;VC=Intron;Gene=GAREM2/NM_001191033.1/1;CC=c.-566A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:G:32:31:0:0:32:936:108.64:101.63:7.02:1.00:1.00:1.00:60:41.8:0:0:55:94:23:NM_001168241.1(FAM59B) c.254-1061A>G,NM_001168241.1(FAM59B) c.254-1061A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26405016 rs2384360 C G 575 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=158;DB;DBA=NA;PAF=C/0.145,G/0.855;Gene=GAREM2/NM_001168241.1/0;CC=c.254-820C>G;VC=Intron;Gene=GAREM2/NM_001191033.1/1;CC=c.-325C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:158:121:0:1:1,155,2:12,5043,21:0.00,575.24,0.29:0.00,336.02,0.29:0.00,239.22,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:61.0,39.7,133.0:0,0,0:0,0,0:48,78,137:103,70,13:0,31,12:NM_001168241.1(FAM59B) c.254-820C>G,NM_001168241.1(FAM59B) c.254-820C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26405363 . g . . NT END=26405835;NT GT ./. 2 26405967 . G . . NT END=26407101;NT GT ./. 2 26405985 rs10779956 A G 357 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.1428,G/0.8572;Gene=GAREM2/NM_001168241.1/0;CC=c.384+19A>G;VC=Intron;Gene=GAREM2/NM_001191033.1/1;CC=c.153+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:102:51:0:0:102:3083:356.54:114.82:241.73:1.00:1.00:1.00:60:38.7:0:0:92:56:27:NM_001168241.1(FAM59B) c.384+19A>G,NM_001168241.1(FAM59B) c.384+19A>G:0.86,0.86:0.828296,0.828296 2 26408064 rs4665833 T C 517 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.08007,C/0.9199;PC=1.000;Gene=GAREM2/NM_001168241.1/0;CC=c.1347T>C;ProtCh=p.D449=;VC=Silent;Gene=GAREM2/NM_001191033.1/1;CC=c.1116T>C;ProtCh=p.D372=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:142:93:0:0:141,1:4505,31:517.15,1.44:251.29,1.44:265.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,31.0:0,0:0,0:74,6:74,145:36,0:NM_001168241.1(FAM59B) c.1347T>C (p.(=)),NM_001168241.1(FAM59B) c.1347T>C (p.(=)):0.92,0.92:NOT_FOUND,NOT_FOUND 2 26408146 . G . . NT END=26409057;NT GT ./. 2 26409228 . G . . NT END=26410099;NT GT ./. 2 26409950 rs892447 G A 299 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.1697,A/0.8303;Gene=GAREM2/NM_001168241.1/0;CC=c.1599-150G>A;VC=Intron;Gene=GAREM2/NM_001191033.1/1;CC=c.1368-150G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:73:0:0:79:2616:299.23:230.17:69.06:1.00:1.00:1.00:60:39.7:0:0:45:104:24:NM_001168241.1(FAM59B) c.1599-150G>A,NM_001168241.1(FAM59B) c.1599-150G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 2 26411127 . A . . NT END=26414118;NT GT ./. 2 26413917 rs7260 C T 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2125,G/.,T/0.7875;Gene=HADHA/NM_000182.4/1;CC=c.*202G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:16:0:0:16:491:56.72:56.72:0.00:1.00:1.00:0.00:60:40.6:0:0:55:96:29:NM_000182.4(HADHA) c.*202G>A,NM_000182.4(HADHA) c.*202G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 2 26414265 . C . . NT END=26414351;NT GT ./. 2 26414498 . C . . NT END=26415178;NT GT ./. 2 26415088 rs397984128 TA T 11 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=156;PC=0.196;Gene=HADHA/NM_000182.4/1;CC=c.2000+90delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,TA,T:16:16:0:4:1,11,4:33,310,132:2.27,0.00,11.34:0.98,0.00,11.34:1.29,0.00,0.00:0.00,0.00,0.75:0.00,0.00,0.75:0.00,0.00,0.50:60,60,60:33.0,20.3,6.2:0,0,0:0,0,0:100,52,38:40,96,111:0,27,5:-,NM_000182.4(HADHA) c.2000+90delT:-,NOT_FOUND:-,NOT_FOUND 2 26415294 . C . . NT END=26416445;NT GT ./. 2 26415429 rs5001914 A G 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1406,G/0.8594;PC=0.001;Gene=HADHA/NM_000182.4/1;CC=c.1886-136T>C;VC=Intron;DM=HADHA/3HCDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:328:38.04:0.00:38.04:1.00:0.00:1.00:60:41.0:0:0:86:64:42:NM_000182.4(HADHA) c.1886-136T>C,NM_000182.4(HADHA) c.1886-136T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26416301 rs7582341 A G 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1474,G/0.8526;PC=0.015;Gene=HADHA/NM_000182.4/1;CC=c.1885+145T>C;VC=Intron;DM=HADHA/3HCDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:19:0:0:19:623:71.34:71.34:0.00:1.00:1.00:0.00:60:37.9:0:0:39:111:34:NM_000182.4(HADHA) c.1885+145T>C,NM_000182.4(HADHA) c.1885+145T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26416642 . C . . NT END=26417438;NT GT ./. 2 26417508 . C . . NT END=26417960;NT GT ./. 2 26417533 rs1865324 C A 100 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.1482,A/0.8518;Gene=HADHA/NM_000182.4/1;CC=c.1621-26G>T;VC=Intron;DM=HADHA/3HCDH_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:18:0:0:27:871:99.94:47.61:52.33:1.00:1.00:1.00:60:36.4:0:0:98:52:24:NM_000182.4(HADHA) c.1621-26G>T,NM_000182.4(HADHA) c.1621-26G>T:0.86,0.86:0.833077,0.833077 2 26417829 rs17593512 G A 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9633,A/0.03674;Gene=HADHA/NM_000182.4/1;CC=c.1620+132C>T;VC=Intron;DM=HADHA/3HCDH_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:21:0:0:16,8:474,243:48.34,0.00:42.92,0.00:5.42,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:33.1,16.8:0,0:0,0:50,43:99,107:33,7:NM_000182.4(HADHA) c.1620+132C>T,-:0.06,-:NOT_FOUND,- 2 26418102 . C . . NT END=26420559;NT GT ./. 2 26420647 . C . . NT END=26424017;NT GT ./. 2 26420708 rs13387855 T G 96 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1472,G/0.8528;PC=0.030;Gene=HADHA/NM_000182.4/1;CC=c.1393-62A>C;VC=Intron;DM=HADHA/3HCDH_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:10:0:0:26:838:96.10:27.84:68.26:1.00:1.00:1.00:60:41.3:0:0:112:38:25:NM_000182.4(HADHA) c.1393-62A>C,NM_000182.4(HADHA) c.1393-62A>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26420809 rs2289019 G C 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1474,C/0.8526;Gene=HADHA/NM_000182.4/1;CC=c.1393-163C>G;VC=Intron;DM=HADHA/3HCDH_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:354:40.63:0.00:40.63:1.00:0.00:1.00:60:59.7:0:0:106:45:27:NM_000182.4(HADHA) c.1393-163C>G,NM_000182.4(HADHA) c.1393-163C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26424190 . C . . NT END=26426930;NT GT ./. 2 26427066 . C . . NT END=26432648;NT GT ./. 2 26432759 . C . . NT END=26435438;NT GT ./. 2 26435496 . C . . NT END=26437311;NT GT ./. 2 26437431 . C . . NT END=26437921;NT GT ./. 2 26438045 . C . . NT END=26453059;NT GT ./. 2 26438276 rs962217 T C 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1472,C/0.8528;PC=0.001;Gene=HADHA/NM_000182.4/1;CC=c.677-232A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:249:28.24:0.00:28.24:1.00:0.00:1.00:60:48.4:0:0:88:63:23:NM_000182.4(HADHA) c.677-232A>G,NM_000182.4(HADHA) c.677-232A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 26452197 rs1560865 C A 46 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1765,A/0.8235;PC=0.008;Gene=HADHA/NM_000182.4/1;CC=c.676+863G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:9:0:0:13:398:45.94:28.28:17.66:1.00:1.00:1.00:60:68.6:0:0:70:72:18:NM_000182.4(HADHA) c.676+863G>T,NM_000182.4(HADHA) c.676+863G>T:0.84,0.84:NOT_FOUND,NOT_FOUND 2 26452209 rs2384361 T C 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1669,C/0.8331;Gene=HADHA/NM_000182.4/1;CC=c.676+851A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:9:0:0:13:423:48.50:29.38:19.12:1.00:1.00:1.00:60:68.3:0:0:82:60:16:NM_000182.4(HADHA) c.676+851A>G,NM_000182.4(HADHA) c.676+851A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 26452216 rs75328342 G GCACA 23 idl,rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4115,GCACA/.,GCACACA/0.5885;DB;DBA=NA;PAF=G/0.4115,GCACA/.,GCACACA/0.5885,GCGCACACA/.;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=33;NP=4;PC=0.014;Gene=HADHA/NM_000182.4/1;CC=c.676+843_676+844insTGTG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GCACA:9:8:11:0:2,7:40,344:0.00,23.46:0.00,16.73:0.00,6.73:0.00,0.99:0.00,1.00:0.00,0.99:60,60:48.5,109.9:0,4:0,0:118,84:27,62:0,16:-,NM_000182.4(HADHA) c.676+843_676+844insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 26453163 . C . . NT END=26455027;NT GT ./. 2 26454996 rs7593175 A G 158 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.5419,G/0.4581;Gene=HADHA/NM_000182.4/1;CC=c.573+32T>C;VC=Intron;DM=HADHA/ECH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:41:0:0:44:1374:158.28:119.61:38.67:1.00:1.00:1.00:60:35.5:0:0:42:107:22:NM_000182.4(HADHA) c.573+32T>C,NM_000182.4(HADHA) c.573+32T>C:0.46,0.46:0.651699,0.651699 2 26455148 . C . . NT END=26457084;NT GT ./. 2 26457224 . C . . NT END=26459722;NT GT ./. 2 26459857 . C . . NT END=26461801;NT GT ./. 2 26460072 rs12998092 C T 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5427,T/0.4573;PC=0.780;Gene=HADHA/NM_000182.4/1;CC=c.181-216G>A;VC=Intron;DM=HADHA/ECH_1;DM=HADHA/3HCDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:270:31.26:0.00:31.26:1.00:0.00:1.00:60:40.9:0:0:96:55:26:NM_000182.4(HADHA) c.181-216G>A,NM_000182.4(HADHA) c.181-216G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 2 26461873 . C . . NT END=26461969;NT GT ./. 2 26462012 . C . . NT END=26467397;NT GT ./. 2 26467536 . A . . NT END=26477122;NT GT ./. 2 26467666 rs3806516 G A 147 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.5427,A/0.4573;Gene=HADHB/NM_000183.2/1;CC=c.-201G>A;VC=5UTR;Gene=HADHB/NM_001281512.1/0;CC=c.-201G>A;VC=5UTR;Gene=HADHB/NM_001281513.1/0;CC=c.-350G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A:40:5:0:0:40:1280:147.02:8.85:138.16:1.00:1.00:1.00:60:40.3:0:0:115:34:24:NM_000183.2(HADHB) c.-201G>A,NM_000183.2(HADHB) c.-201G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 2 26476977 rs10201087 A G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3151,G/0.6849;PC=0.009;Gene=HADHB/NM_000183.2/1;CC=c.-8-138A>G;VC=Intron;Gene=HADHB/NM_001281512.1/0;CC=c.-8-138A>G;VC=Intron;Gene=HADHB/NM_001281513.1/0;CC=c.-157-138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:172:20.01:20.01:0.00:1.00:1.00:0.00:60:45.5:0:0:78:70:17:NM_000183.2(HADHB) c.-8-138A>G,NM_000183.2(HADHB) c.-8-138A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 26477125 rs59947000 G GACT 138 PASS VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.2905,GACC/.,GACT/0.7095,GGCT/.;DB;DBA=NA;PAF=G/0.2905,GACT/0.7095;DB;DBA=NA;PAF=G/0.2905,GACT/0.7095;NP=3266;PC=1.000;Gene=HADHB/NM_000183.2/1;CC=c.5_7dupCTA;ProtCh=p.T2_I3insT;VC=InFrameIns;Gene=HADHB/NM_001281512.1/0;CC=c.5_7dupCTA;ProtCh=p.T2_I3insT;VC=InFrameIns;Gene=HADHB/NM_001281513.1/0;CC=c.-145_-143dupCTA;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GACT:43:38:39:0:4,39:129,1250:0.00,137.82:0.00,92.52:0.00,45.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.5,9.4:2,0:0,0:119,59:25,90:20,22:-,NM_000183.2(HADHB) c.5_7dupCTA (p.Thr2dup):-,NOT_FOUND:-,0.913137 2 26477187 . G . . NT END=26477297;NT GT ./. 2 26477343 . G . . NT END=26483848;NT GT ./. 2 26483932 . g . . NT END=26486247;NT GT ./. 2 26484080 rs70950178 A AC 14 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=22;NP=3;NP=37;PC=0.001;Gene=HADHB/NM_000183.2/1;CC=c.110-2158dupC;VC=Intron;Gene=HADHB/NM_001281512.1/0;CC=c.110-2158dupC;VC=Intron;Gene=HADHB/NM_001281513.1/0;CC=c.43+159dupC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,C,AC:12:1:6:0:4,2,6:97,21,142:0.00,1.24,14.05:0.00,0.00,3.08:0.00,1.24,10.98:0.00,0.00,0.98:0.00,0.00,0.67:0.00,0.00,1.00:60,60,70:0.0,37.5,45.8:0,0,0:0,0,0:97,66,84:54,83,66:9,22,44:-,NM_000183.2(HADHB) c.110-2168_110-2167insC:-,NOT_FOUND:-,NOT_FOUND 2 26486348 . G . . NT END=26492820;NT GT ./. 2 26492866 . G . . NT END=26496518;NT GT ./. 2 26496619 . G . . NT END=26499940;NT GT ./. 2 26500029 . G . . NT END=26501481;NT GT ./. 2 26501670 . G . . NT END=26502002;NT GT ./. 2 26502184 . G . . NT END=26502861;NT GT ./. 2 26502984 . G . . NT END=26505712;NT GT ./. 2 26505793 . G . . NT END=26505871;NT GT ./. 2 26505920 . G . . NT END=26506984;NT GT ./. 2 26507073 . G . . NT END=26507750;NT GT ./. 2 26507826 . G . . NT END=26508274;NT GT ./. 2 26508440 . G . . NT END=26512785;NT GT ./. 2 26512822 . T . . NT END=26531953;NT GT ./. 2 26512957 rs1056471 G C 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2889,C/0.7111;PC=0.004;Gene=HADHB/NM_000183.2/1;CC=c.*136G>C;VC=3UTR;Gene=HADHB/NM_001281512.1/0;CC=c.*136G>C;VC=3UTR;Gene=HADHB/NM_001281513.1/0;CC=c.*136G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:368:42.05:0.00:42.05:1.00:0.00:1.00:60:40.0:0:0:88:63:42:NM_000183.2(HADHB) c.*136G>C,NM_000183.2(HADHB) c.*136G>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 26519596 rs60036059 T TACAC 14 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=3;NP=7;PC=0.042;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TACAC:6:7:6:0:2,4:67,184:0.00,13.70:0.00,9.44:0.00,4.26:0.00,0.87:0.00,0.99:0.00,0.96:60,60:0.0,25.8:0,2:0,0:98,61:38,81:15,19:-,chr2 g.26519596_26519597insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 26532450 . C . . NT END=26532811;NT GT ./. 2 26532491 rs2007556 G T 218 nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.2909,T/0.7091;Gene=ADGRF3/NM_001145169.1/0;CC=c.2935-42C>A;VC=Intron;Gene=ADGRF3/NM_153835.3/0;CC=c.2545-42C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:T:61:15:0:0:61:1888:217.71:35.79:181.91:1.00:1.00:1.00:60:43.7:0:0:95:53:24:NM_001145169.1(GPR113) c.2935-42C>A,NM_001145169.1(GPR113) c.2935-42C>A:0.75,0.75:0.728282,0.728282 2 26532735 rs3856397 G A 155 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.3752,A/0.6248;PC=0.002;Gene=ADGRF3/NM_001145169.1/0;CC=c.2934+176C>T;VC=Intron;Gene=ADGRF3/NM_153835.3/0;CC=c.2544+176C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A:44:40:0:0:44:1344:155.20:132.60:22.59:1.00:1.00:1.00:60:35.9:0:0:66:84:33:NM_001145169.1(GPR113) c.2934+176C>T,NM_001145169.1(GPR113) c.2934+176C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 2 26532974 . C . . NT END=26533063;NT GT ./. 2 26533023 rs3851967 C T 354 nt VT=SNV;PN=G;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.3738,T/0.6262;Gene=ADGRF3/NM_001145169.1/0;CC=c.2871+41G>A;VC=Intron;Gene=ADGRF3/NM_153835.3/0;CC=c.2481+41G>A;VC=Intron;Gene=ADGRF3/NM_001145168.1/1;CC=c.3078+41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:98:54:0:0:1,1,96:11,9,3095:0.13,0.08,354.34:0.00,0.08,132.41:0.13,0.00,221.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:43.0,18.0,37.7:0,0,0:0,0,0:65,32,74:86,118,69:0,0,38:NM_001145168.1(GPR113) c.3078+41G>A,NM_001145168.1(GPR113) c.3078+41G>A:0.67,0.67:0.64278,0.64278 2 26533106 . C . . NT END=26533559;NT GT ./. 2 26534801 rs7568529 G A 563 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=G/0.3287,A/0.6713;PC=0.061;Gene=ADGRF3/NM_001145169.1/0;CC=c.1588C>T;ProtCh=p.H530Y;VC=Missense;Gene=ADGRF3/NM_153835.3/0;CC=c.1198C>T;ProtCh=p.H400Y;VC=Missense;Gene=ADGRF3/NM_001145168.1/1;CC=c.1795C>T;ProtCh=p.H599Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:154:105:0:0:153,1:4924,12:563.01,0.00:277.85,0.00:285.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,119.0:0,0:0,0:61,36:89,96:35,0:NM_001145168.1(GPR113) c.1795C>T (p.His599Tyr),NM_001145168.1(GPR113) c.1795C>T (p.His599Tyr):0.72,0.72:0.684915,0.684915 2 26534943 . C . . NT END=26535810;NT GT ./. 2 26535144 rs397722063 T TG 20 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2686,TG/0.7314;DB;DBA=NA;PAF=T/0.2686,TG/0.7314;DB;DBA=NA;PAF=T/0.2686,TG/0.7314;NP=275;Gene=ADGRF3/NM_001145169.1/0;CC=c.1447-203dupC;VC=Intron;Gene=ADGRF3/NM_153835.3/0;CC=c.1057-203dupC;VC=Intron;Gene=ADGRF3/NM_001145168.1/1;CC=c.1654-203dupC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TG:6:0:6:0:6:174:20.25:0.00:20.25:1.00:0.00:1.00:60:14.0:0:0:76:72:18:NM_001145168.1(GPR113) c.1654-203_1654-202insC,NM_001145168.1(GPR113) c.1654-203_1654-202insC:0.76,0.76:NOT_FOUND,NOT_FOUND 2 26535991 . C . . NT END=26536244;NT GT ./. 2 26536442 . C . . NT END=26536627;NT GT ./. 2 26536555 rs7566473 T C 230 nt VT=SNV;PN=G;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.2728,C/0.7272;Gene=ADGRF3/NM_001145169.1/0;CC=c.1069+73A>G;VC=Intron;Gene=ADGRF3/NM_153835.3/0;CC=c.679+73A>G;VC=Intron;Gene=ADGRF3/NM_001145168.1/1;CC=c.1276+73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C,G,T:69:39:0:0:66,1,2:2024,21,21:230.16,0.78,0.00:124.46,0.79,0.00:105.70,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.9,238.0,94.0:0,0,0:0,0,0:76,147,108:74,4,26:35,0,11:NM_001145168.1(GPR113) c.1276+73A>G,NM_001145168.1(GPR113) c.1276+73A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 2 26536694 rs2052937 C T 337 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.3367,T/0.6633;PC=0.040;Gene=ADGRF3/NM_001145169.1/0;CC=c.1003G>A;ProtCh=p.A335T;VC=Missense;Gene=ADGRF3/NM_153835.3/0;CC=c.613G>A;ProtCh=p.A205T;VC=Missense;Gene=ADGRF3/NM_001145168.1/1;CC=c.1210G>A;ProtCh=p.A404T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:93:63:0:0:93:2931:337.28:163.14:174.14:1.00:1.00:1.00:60:38.6:0:0:48:96:34:NM_001145168.1(GPR113) c.1210G>A (p.Ala404Thr),NM_001145168.1(GPR113) c.1210G>A (p.Ala404Thr):0.71,0.71:0.689835,0.689835 2 26536772 . C . . NT END=26537281;NT GT ./. 2 26537492 . C . . NT END=26538389;NT GT ./. 2 26537499 rs10187359 A C 370 nt VT=SNV;PN=A;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.08307,C/0.9169;PC=0.107;Gene=ADGRF3/NM_001145169.1/0;CC=c.716-8T>G;VC=Intron;Gene=ADGRF3/NM_153835.3/0;CC=c.326-8T>G;VC=Intron;Gene=ADGRF3/NM_001145168.1/1;CC=c.923-8T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:98:54:0:0:98:3239:370.47:132.50:237.98:1.00:1.00:1.00:60:41.9:0:0:109:38:27:NM_001145168.1(GPR113) c.923-8T>G,NM_001145168.1(GPR113) c.923-8T>G:0.94,0.94:0.94764,0.94764 2 26538636 . C . . NT END=26539142;NT GT ./. 2 26539317 . C . . NT END=26539779;NT GT ./. 2 26539924 . C . . NT END=26540363;NT GT ./. 2 26540431 . C . . NT END=26540878;NT GT ./. 2 26540992 . C . . NT END=26541739;NT GT ./. 2 26541158 rs11904514 G A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.235,A/0.765;Gene=ADGRF3/NM_001145169.1/0;CC=c.84+676C>T;VC=Intron;Gene=ADGRF3/NM_153835.3/0;CC=c.115-728C>T;VC=Intron;Gene=ADGRF3/NM_001145168.1/1;CC=c.179-167C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,G:9:0:0:0:5,4:163,137:16.00,0.00:0.00,0.00:16.00,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:39.2,47.5:0,0:0,0:112,107:38,37:20,10:NM_001145168.1(GPR113) c.179-167C>T,-:0.74,-:NOT_FOUND,- 2 26541971 . G . . NT END=26568988;NT GT ./. 2 26542143 rs7585749 A G 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.07348,G/0.9265;PC=0.001;Gene=ADGRF3/NM_153835.3/0;CC=c.115-1713T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:1:0:0:11:326:37.82:2.04:35.78:1.00:1.00:1.00:60:43.1:0:0:81:70:27:NM_001145168.1(GPR113) c.1-u226T>C,NM_001145168.1(GPR113) c.1-u226T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 26559183 rs71399385 A AGTGTGTGTGTGTGTGT 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4609,AGT/.,AGTGTGTGTGTGT/.,AGTGTGTGTGTGTGT/0.5391;DB;DBA=NA;PAF=A/0.4609,AGT/.,AGTGTGTGTGT/.,AGTGTGTGTGTGT/.,AGTGTGTGTGTGTGT/0.5391;NP=1;NP=1;NP=2;PC=0.002;Gene=ADGRF3/NM_153835.3/0;CC=c.114+9805_114+9806insACACACACACACACAC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,AGTGTGTGTGTGTGTGT:4:4:4:0:1,3:35,117:0.00,8.86:0.00,9.26:0.00,-0.40:0.00,0.78:0.00,0.97:0.00,0.73:60,70:0.0,28.7:0,1:0,0:67,57:84,73:0,26:-,NM_153835.3(GPR113) c.114+9805_114+9806insACACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 26569158 . G . . NT END=26587169;NT GT ./. 2 26587239 . G . . NT END=26587699;NT GT ./. 2 26587809 . G . . NT END=26590013;NT GT ./. 2 26590089 . G . . NT END=26596234;NT GT ./. 2 26596498 . G . . NT END=26597907;NT GT ./. 2 26598017 . G . . NT END=26606166;NT GT ./. 2 26606154 rs1109465 T C 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.8151,C/0.1849;PC=0.998;Gene=EPT1/NM_033505.2/1;CC=c.683-13T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:22:0:0:16,13:535,391:52.49,0.00:30.13,0.00:22.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,22.5:0,0:0,0:37,81:114,67:20,41:NM_033505.2(EPT1) c.683-13T>C,-:0.23,-:0.056078,- 2 26606216 . G . . NT END=26607826;NT GT ./. 2 26607815 rs4665853 T C 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.8163,C/0.1837;PC=0.565;Gene=EPT1/NM_033505.2/1;CC=c.732-12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:27:0:0:14,16:482,492:45.89,0.00:30.69,0.00:15.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,17.8:0,0:0,0:48,38:102,110:16,29:NM_033505.2(EPT1) c.732-12T>C,-:0.23,-:0.04912,- 2 26607992 rs934280 T C 163 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.0609,C/0.9391;PC=1.000;Gene=EPT1/NM_033505.2/1;CC=c.897T>C;ProtCh=p.A299=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:22:0:0:43:1423:162.76:47.40:115.36:1.00:1.00:1.00:60:37.1:0:0:105:45:31:NM_033505.2(EPT1) c.897T>C (p.(=)),NM_033505.2(EPT1) c.897T>C (p.(=)):0.93,0.93:0.952498,0.952498 2 26608008 . G . . NT END=26609221;NT GT ./. 2 26609405 . G . . NT END=26611872;NT GT ./. 2 26609469 rs7585892 G A 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7564,A/0.2436;PC=0.002;Gene=EPT1/NM_033505.2/1;CC=c.1095+65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:3:0:0:10,13:325,405:30.44,0.00:3.37,0.00:27.07,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:35.9,18.1:0,0:0,0:100,79:50,71:32,18:NM_033505.2(EPT1) c.1095+65G>A,-:0.25,-:NOT_FOUND,- 2 26611667 rs11126455 T C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.0609,C/0.9391;Gene=EPT1/NM_033505.2/1;CC=c.1096-206T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:260:30.26:30.26:0.00:1.00:1.00:0.00:60:33.4:0:0:47:104:29:NM_033505.2(EPT1) c.1096-206T>C,NM_033505.2(EPT1) c.1096-206T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 26611972 . T . . NT END=26624857;NT GT ./. 2 26625013 . G . . NT END=26637211;NT GT ./. 2 26637300 . G . . NT END=26644155;NT GT ./. 2 26644269 . G . . NT END=26647138;NT GT ./. 2 26647277 rs7423300 T G 148 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=T/0.3766,A/.,C/.,G/0.6234;Gene=DRC1/NM_145038.3/1;CC=c.495T>G;ProtCh=p.A165=;VC=Silent;DM=DRC1/NYD-SP28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:121:65:0:0:52,69:1590,2289:147.89,0.00:58.93,0.00:88.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,10.9:0,0:0,0:74,93:66,47:40,33:NM_145038.2(CCDC164) c.495T>G (p.(=)),-:0.61,-:0.785714,- 2 26647323 . G . . NT END=26652495;NT GT ./. 2 26652634 . G . . NT END=26653653;NT GT ./. 2 26652671 rs4356622 A G 102 nt VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.2244,C/.,G/0.7756;Gene=DRC1/NM_145038.3/1;CC=c.678+38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:40:0:0:55,38:1801,1113:0.00,102.01:0.00,32.57:0.00,69.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,35.7:0,0:0,0:98,89:46,61:31,32:-,NM_145038.2(CCDC164) c.678+38A>G:-,0.74:-,0.909888 2 26653457 rs4450561 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6989,A/0.3011;Gene=DRC1/NM_145038.3/1;CC=c.679-197G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:8,8:229,219:21.87,0.00:21.87,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.5,7.6:0,0:0,0:46,34:103,116:28,29:NM_145038.2(CCDC164) c.679-197G>A,-:0.31,-:NOT_FOUND,- 2 26653741 . G . . NT END=26654751;NT GT ./. 2 26653826 rs5830013 C CT 14 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.7079,CT/0.2921,CTT/.,CTTT/.;NP=15;NP=16;PC=0.002;Gene=DRC1/NM_145038.3/1;CC=c.765+106_765+107insT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,G,T,CT,D:38:4:8:7:26,1,2,6,3:644,12,57,229,175:0.00,0.04,3.47,13.55,6.16:0.00,-0.04,-0.07,-0.23,-0.11:0.00,0.08,3.54,13.78,6.27:0.00,0.00,0.00,0.87,0.00:0.00,0.00,0.00,0.46,0.00:0.00,0.00,0.00,0.99,0.00:60,60,60,60,60:18.7,41.0,114.5,25.7,39.3:0,0,1,2,3:0,0,0,0,0:128,17,47,106,108:21,134,102,43,43:19,0,47,13,6:-,NM_145038.2(CCDC164) c.765+86_765+87insT:-,NOT_FOUND:-,NOT_FOUND 2 26654875 . G . . NT END=26663245;NT GT ./. 2 26663187 rs58723978 T TTGTG 106 idl,rn VT=INS;SST=Single;DP=120;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=98;PC=0.087;Gene=DRC1/NM_145038.3/1;CC=c.889-32_889-31insGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TTGTG,D:113:108:45:3:2,70,38,3:69,2000,1394,94:3.80,0.00,105.64,5.27:2.81,0.00,67.64,5.44:0.99,0.00,38.00,-0.16:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:88.0,16.5,55.4,7.3:0,0,7,0:0,0,0,0:48,64,42,25:97,84,98,126:38,38,17,8:-,NM_145038.2(CCDC164) c.889-59_889-58insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 26663215 rs56218945 A G 185 nt VT=SNV;PN=T;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=NA;NP=685;Gene=DRC1/NM_145038.3/1;CC=c.889-31A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:119:100:0:5:60,59:1948,1927:0.00,184.97:0.00,115.50:0.00,69.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,55.9:0,0:0,0:57,72:81,72:27,20:-,NM_145038.2(CCDC164) c.889-31A>G:-,0.32:-,0.143346 2 26663386 . G . . NT END=26667089;NT GT ./. 2 26667225 . G . . NT END=26667583;NT GT ./. 2 26667615 rs939820 T C 416 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.0007987,C/0.9992;NP=3469;PC=1.000;Gene=DRC1/NM_145038.3/1;CC=c.1195T>C;ProtCh=p.W399R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:118:99:0:0:118:3601:415.76:313.20:102.56:1.00:1.00:1.00:60:44.5:0:0:62:88:33:NM_145038.2(CCDC164) c.1195T>C (p.Trp399Arg),NM_145038.2(CCDC164) c.1195T>C (p.Trp399Arg):1,1:0.998001,0.998001 2 26667817 . G . . NT END=26671558;NT GT ./. 2 26671544 rs4072407 A G 155 nt VT=SNV;PN=C;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.4696,G/0.5304;Gene=DRC1/NM_145038.3/1;CC=c.1397-15A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:79:0:0:40,51:1287,1583:0.00,155.46:0.00,112.64:0.00,42.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,36.9:0,0:0,0:61,42:88,96:26,29:-,NM_145038.2(CCDC164) c.1397-15A>G:-,0.53:-,0.678456 2 26671672 . G . . NT END=26672863;NT GT ./. 2 26672954 . G . . NT END=26673459;NT GT ./. 2 26673550 . G . . NT END=26676187;NT GT ./. 2 26676322 rs1402962 A G 498 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.005591,A/0.9944;NP=3465;Gene=DRC1/NM_145038.3/1;CC=c.1824A>G;ProtCh=p.E608=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:134:74:0:0:134:4343:498.00:206.84:291.16:1.00:1.00:1.00:60:46.6:0:0:97:52:28:NM_145038.2(CCDC164) c.1824A>G (p.(=)),NM_145038.2(CCDC164) c.1824A>G (p.(=)):0.99,0.99:0.99531,0.99531 2 26676395 rs12623642 G T 127 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.8061,A/.,T/0.1939;PC=1.000;Gene=DRC1/NM_145038.3/1;CC=c.1897G>T;ProtCh=p.V633F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:87:32:0:0:46,41:1485,1333:0.00,126.74:0.00,30.04:0.00,96.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.3,55.0:0,0:0,0:94,74:53,73:33,41:-,NM_145038.2(CCDC164) c.1897G>T (p.Val633Phe):-,0.23:-,0.055897 2 26676418 . G . . NT END=26677514;NT GT ./. 2 26677303 rs2280515 G T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2103,T/0.7897;Gene=DRC1/NM_145038.3/1;CC=c.1920-212G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:16:16:0:0:9,7:272,237:0.00,22.28:0.00,22.28:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:22.9,37.0:0,0:0,0:18,42:132,109:14,31:-,NM_145038.2(CCDC164) c.1920-212G>T:-,0.75:-,NOT_FOUND 2 26677659 . G . . NT END=26677998;NT GT ./. 2 26677810 rs2280516 A G 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.4375,G/0.5625;Gene=DRC1/NM_145038.3/1;CC=c.2063+152A>G;VC=Intron;DM=DRC1/NYD-SP28_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:49:11:0:0:27,22:930,648:0.00,60.57:0.00,6.22:0.00,54.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,48.1:0,0:0,0:102,89:49,61:28,29:-,NM_145038.2(CCDC164) c.2063+152A>G:-,0.55:-,NOT_FOUND 2 26678102 . G . . NT END=26679328;NT GT ./. 2 26678169 rs1879759 G A 111 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.8085,A/0.1915;Gene=DRC1/NM_145038.3/1;CC=c.2166+68G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:12:0:0:35,18:1095,583:111.46,0.00:6.97,0.00:104.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,10.3:0,0:0,0:102,109:48,42:34,26:NM_145038.2(CCDC164) c.2166+68G>A,-:0.23,-:NOT_FOUND,- 2 26679386 . G . . NT END=26680907;NT GT ./. 2 26679394 rs1054737 G A 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.9734,A/0.02656;Gene=DRC1/NM_145038.3/1;CC=c.*9G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:41:0:0:33,38:1048,1228:99.31,0.00:44.18,0.00:55.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,5.0:0,0:0,0:97,71:52,79:34,35:NM_145038.2(CCDC164) c.*9G>A,-:0.03,-:0.057819,- 2 26681089 . C . . NT END=26682875;NT GT ./. 2 26682646 rs4416176 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.779,C/0.221;Gene=OTOF/NM_004802.3/0;CC=c.*17+230A>G;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.*17+230A>G;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.3512+869A>G;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.5813+869A>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.*17+230A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:4:4:0:0:2,2:68,63:6.55,0.00:6.55,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:48.0,69.0:0,0:0,0:12,9:138,141:0,8:NM_194248.2(OTOF) c.*17+230A>G,-:0.26,-:NOT_FOUND,- 2 26683074 . C . . NT END=26683514;NT GT ./. 2 26683616 . C . . NT END=26683719;NT GT ./. 2 26683730 rs200182894 A G 161 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=NA;PC=1.000;Gene=OTOF/NM_004802.3/0;CC=c.3401T>C;ProtCh=p.F1134S;VC=Missense;Gene=OTOF/NM_194322.2/0;CC=c.3632T>C;ProtCh=p.F1211S;VC=Missense;Gene=OTOF/NM_194323.2/0;CC=c.3401T>C;ProtCh=p.F1134S;VC=Missense;Gene=OTOF/NM_001287489.1/0;CC=c.5702T>C;ProtCh=p.F1901S;VC=Missense;Gene=OTOF/NM_194248.2/1;CC=c.5702T>C;ProtCh=p.F1901S;VC=Missense;DM=OTOF/Ferlin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:110:73:0:0:58,52:1870,1689:0.00,160.60:0.00,91.03:0.00,69.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,45.7:0,0:0,0:77,60:71,79:27,34:-,NM_194248.2(OTOF) c.5702T>C (p.Phe1901Ser):-,NOT_FOUND:-,NOT_FOUND 2 26683899 . C . . NT END=26684563;NT GT ./. 2 26684497 rs2280512 C T 119 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.9048,T/0.09525;Gene=OTOF/NM_004802.3/0;CC=c.3232+67G>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.3463+67G>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.3232+67G>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.5533+67G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.5533+67G>A;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:64:0:0:36,37:1066,1232:0.00,118.89:0.00,84.10:0.00,34.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,47.5:0,0:0,0:38,30:104,117:22,19:-,NM_194248.2(OTOF) c.5533+67G>A:-,0.09:-,NOT_FOUND 2 26684806 . C . . NT END=26684950;NT GT ./. 2 26685050 . C . . NT END=26686350;NT GT ./. 2 26686440 . C . . NT END=26686831;NT GT ./. 2 26686975 . C . . NT END=26687736;NT GT ./. 2 26687162 rs144387283 A G 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.9938,G/0.00619;NP=7;Gene=OTOF/NM_004802.3/0;CC=c.2660-188T>C;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2891-188T>C;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.2660-188T>C;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4961-188T>C;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4961-188T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:9,8:285,247:0.00,23.42:0.00,0.00:0.00,23.42:0.00,0.99:0.00,0.00:0.00,0.99:60,60:21.7,63.9:0,0:0,0:122,92:27,58:11,13:-,NM_194248.2(OTOF) c.4961-188T>C:-,0.01:-,NOT_FOUND 2 26687195 rs116682447 G A 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.993,A/0.006989;NP=3;PC=0.001;Gene=OTOF/NM_004802.3/0;CC=c.2660-221C>T;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2891-221C>T;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.2660-221C>T;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4961-221C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4961-221C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:9:0:0:0:6,3:184,80:18.80,0.00:0.00,0.00:18.80,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:69.8,50.0:0,0:0,0:121,125:30,25:8,8:NM_194248.2(OTOF) c.4961-221C>T,-:0.01,-:NOT_FOUND,- 2 26687898 . C . . NT END=26688539;NT GT ./. 2 26687908 rs41286009 G A 151 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.999,A/0.0009984;NP=17;Gene=OTOF/NM_004802.3/0;CC=c.2499-11C>T;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2730-11C>T;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.2499-11C>T;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4800-11C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4800-11C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:42:0:0:46,41:1556,1214:151.45,0.00:41.37,0.00:110.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,13.5:0,0:0,0:88,84:62,62:28,33:NM_194248.2(OTOF) c.4800-11C>T,-:0.0009,-:0.002307,- 2 26688100 rs72853723 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9758,G/0.02416;Gene=OTOF/NM_004802.3/0;CC=c.2499-203T>C;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2730-203T>C;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.2499-203T>C;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4800-203T>C;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4800-203T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:8:0:0:0:4,4:130,123:0.00,11.80:0.00,0.00:0.00,11.80:0.00,0.87:0.00,0.00:0.00,0.87:60,60:3.0,36.8:0,0:0,0:119,94:32,57:18,37:-,NM_194248.2(OTOF) c.4800-203T>C:-,0.02:-,NOT_FOUND 2 26688322 rs58155484 C T 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9756,T/0.02436;Gene=OTOF/NM_004802.3/0;CC=c.2498+218G>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2729+218G>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.2498+218G>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4799+218G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4799+218G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T:7:6:0:0:1,6:32,203:0.00,21.92:0.00,18.21:0.00,3.71:0.00,1.00:0.00,1.00:0.00,0.90:60,60:0.0,39.5:0,0:0,0:18,26:133,123:0,15:-,NM_194248.2(OTOF) c.4799+218G>A:-,0.02:-,NOT_FOUND 2 26688711 . C . . NT END=26688816;NT GT ./. 2 26688945 . C . . NT END=26689581;NT GT ./. 2 26689412 rs138481203 C T 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.993,T/0.006989;NP=7;PC=0.001;Gene=OTOF/NM_004802.3/0;CC=c.2199+170G>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2430+170G>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.2199+170G>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4500+170G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4500+170G>A;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:11:11:0:0:4,7:126,164:0.00,16.56:0.00,16.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:51.2,28.0:0,0:0,0:29,36:121,115:22,28:-,NM_194248.2(OTOF) c.4500+170G>A:-,0.01:-,NOT_FOUND 2 26689720 . C . . NT END=26689966;NT GT ./. 2 26689911 rs200861730 G GT 117 nt VT=INS;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.9936,GT/0.00639;NP=80;Gene=OTOF/NM_004802.3/0;CC=c.2061+55dupA;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2292+55dupA;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.2061+55dupA;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4362+55dupA;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4362+55dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:94:85:41:0:53,41:1664,1256:0.00,117.24:0.00,110.76:0.00,6.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.3,30.0:5,0:0,0:55,65:91,86:24,32:-,NM_194248.2(OTOF) c.4362+55_4362+56insA:-,0.01:-,NOT_FOUND 2 26689997 rs149236286 G A 204 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=134;DB;DBA=in-clinvar;PAF=G/0.9934,A/0.006589,T/.;Gene=OTOF/NM_004802.3/0;CC=c.2031C>T;ProtCh=p.T677=;VC=Silent;Gene=OTOF/NM_194322.2/0;CC=c.2262C>T;ProtCh=p.T754=;VC=Silent;Gene=OTOF/NM_194323.2/0;CC=c.2031C>T;ProtCh=p.T677=;VC=Silent;Gene=OTOF/NM_001287489.1/0;CC=c.4332C>T;ProtCh=p.T1444=;VC=Silent;Gene=OTOF/NM_194248.2/1;CC=c.4332C>T;ProtCh=p.T1444=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:90:0:0:64,70:2134,2098:203.72,0.00:94.44,0.00:109.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,17.4:0,0:0,0:70,85:76,54:24,36:NM_194248.2(OTOF) c.4332C>T (p.(=)),-:0.01,-:0.018761,- 2 26690102 . C . . NT END=26690232;NT GT ./. 2 26690370 . C . . NT END=26691275;NT GT ./. 2 26690520 rs59761427 C T 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.9501,T/0.04992;Gene=OTOF/NM_004802.3/0;CC=c.1790-151G>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.2021-151G>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.1790-151G>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.4091-151G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.4091-151G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:C,G,T:18:0:0:0:6,1,11:186,12,366:0.00,0.39,37.03:0.00,0.00,0.00:0.00,0.39,37.03:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:0.0,75.0,37.3:0,0,0:0,0,0:83,141,102:67,10,49:36,0,34:-,NM_194248.2(OTOF) c.4091-151G>A:-,0.04:-,NOT_FOUND 2 26691343 . C . . NT END=26693460;NT GT ./. 2 26693590 . C . . NT END=26693988;NT GT ./. 2 26693967 rs2272072 C T 100 nt VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.7957,T/0.2043;Gene=OTOF/NM_004802.3/0;CC=c.1593+22G>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.1824+22G>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.1593+22G>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.3894+22G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.3894+22G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:53:0:0:31,30:998,1036:0.00,99.55:0.00,70.26:0.00,29.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,40.4:0,0:0,0:24,45:124,104:18,27:-,NM_194248.2(OTOF) c.3894+22G>A:-,0.24:-,0.05805 2 26694019 . C . . NT END=26695386;NT GT ./. 2 26695338 rs41286013 C T 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.9704,T/0.02955;Gene=OTOF/NM_004802.3/0;CC=c.1563+49G>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.1794+49G>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.1563+49G>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.3864+49G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.3864+49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:55:0:0:34,31:1105,957:0.00,90.95:0.00,58.68:0.00,32.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,76.5:0,0:0,0:45,30:97,119:29,21:-,NM_194248.2(OTOF) c.3864+49G>A:-,0.03:-,0.040904 2 26695354 rs41286015 C T 131 nt VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.9704,T/0.02955;Gene=OTOF/NM_004802.3/0;CC=c.1563+33G>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.1794+33G>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.1563+33G>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.3864+33G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.3864+33G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:86:72:0:0:44,42:1419,1364:0.00,130.52:0.00,86.89:0.00,43.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,61.4:0,0:0,0:38,25:99,112:29,20:-,NM_194248.2(OTOF) c.3864+33G>A:-,0.03:-,0.040981 2 26695518 . C . . NT END=26695999;NT GT ./. 2 26696163 . C . . NT END=26696273;NT GT ./. 2 26696436 . C . . NT END=26696858;NT GT ./. 2 26696979 . C . . NT END=26697380;NT GT ./. 2 26697422 rs80356574 C G 171 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=115;DB;DBA=in-clinvar;PAF=C/0.9938,A/.,G/0.00619,T/.;PC=0.220;Gene=OTOF/NM_004802.3/0;CC=c.1006G>C;ProtCh=p.A336P;VC=Missense;Gene=OTOF/NM_194322.2/0;CC=c.1177G>C;ProtCh=p.A393P;VC=Missense;Gene=OTOF/NM_194323.2/0;CC=c.1006G>C;ProtCh=p.A336P;VC=Missense;Gene=OTOF/NM_001287489.1/0;CC=c.3247G>C;ProtCh=p.A1083P;VC=Missense;Gene=OTOF/NM_194248.2/1;CC=c.3247G>C;ProtCh=p.A1083P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:115:91:0:0:60,55:1997,1795:0.00,171.16:0.00,92.08:0.00,79.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,55.3:0,0:0,0:69,73:71,76:40,35:-,NM_194248.2(OTOF) c.3247G>C (p.Ala1083Pro):-,0.01:-,0.01892 2 26697480 rs80356573 C T 167 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=in-clinvar;PAF=C/0.993,T/0.006989;Gene=OTOF/NM_004802.3/0;CC=c.948G>A;ProtCh=p.A316=;VC=Silent;Gene=OTOF/NM_194322.2/0;CC=c.1119G>A;ProtCh=p.A373=;VC=Silent;Gene=OTOF/NM_194323.2/0;CC=c.948G>A;ProtCh=p.A316=;VC=Silent;Gene=OTOF/NM_001287489.1/0;CC=c.3189G>A;ProtCh=p.A1063=;VC=Silent;Gene=OTOF/NM_194248.2/1;CC=c.3189G>A;ProtCh=p.A1063=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:117:85:0:0:65,52:2090,1771:0.00,167.04:0.00,85.13:0.00,81.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,58.4:0,0:0,0:73,76:73,72:33,36:-,NM_194248.2(OTOF) c.3189G>A (p.(=)):-,0.01:-,0.019071 2 26697543 . C . . NT END=26698226;NT GT ./. 2 26697925 rs148216359 G T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9938,A/.,T/0.00619;Gene=OTOF/NM_004802.3/0;CC=c.885+302C>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.1056+302C>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.885+302C>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.3126+302C>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.3126+302C>A;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:5:3:0:0:2,3:66,88:0.00,8.77:0.00,5.91:0.00,2.86:0.00,0.78:0.00,0.94:0.00,0.87:60,60:51.0,56.7:0,0:0,0:54,138:97,13:13,10:-,NM_194248.2(OTOF) c.3126+302C>A:-,0.01:-,NOT_FOUND 2 26698019 rs4427975 G C 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2444,C/0.7556;Gene=OTOF/NM_004802.3/0;CC=c.885+208C>G;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.1056+208C>G;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.885+208C>G;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.3126+208C>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.3126+208C>G;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:276:31.42:31.42:0.00:1.00:1.00:0.00:60:61.2:0:0:45:106:25:NM_194248.2(OTOF) c.3126+208C>G,NM_194248.2(OTOF) c.3126+208C>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 26698065 rs114185661 T C 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9938,C/0.00619;NP=16;PC=0.189;Gene=OTOF/NM_004802.3/0;CC=c.885+162A>G;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.1056+162A>G;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.885+162A>G;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.3126+162A>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.3126+162A>G;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:7,10:227,342:21.04,0.00:21.04,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:52.4,20.9:0,0:0,0:25,32:101,118:16,16:NM_194248.2(OTOF) c.3126+162A>G,-:0.01,-:NOT_FOUND,- 2 26698362 . C . . NT END=26698781;NT GT ./. 2 26698593 rs142364427 G A 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9946,A/0.005391;NP=21;Gene=OTOF/NM_004802.3/0;CC=c.750+189C>T;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.921+189C>T;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.750+189C>T;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.2991+189C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2991+189C>T;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:22:0:0:15,13:475,336:46.25,0.00:31.27,0.00:14.98,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.1,26.3:0,0:0,0:77,38:74,113:33,38:NM_194248.2(OTOF) c.2991+189C>T,-:0.01,-:NOT_FOUND,- 2 26698682 rs6712188 G T 60 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.504,T/0.496;PC=0.002;Gene=OTOF/NM_004802.3/0;CC=c.750+100C>A;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.921+100C>A;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.750+100C>A;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.2991+100C>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2991+100C>A;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:44:37:0:0:22,22:643,625:0.00,59.71:0.00,55.46:0.00,4.25:0.00,1.00:0.00,1.00:0.00,0.98:60,60:24.2,39.4:0,0:0,0:48,49:96,101:28,36:-,NM_194248.2(OTOF) c.2991+100C>A:-,0.52:-,NOT_FOUND 2 26698907 . C . . NT END=26698995;NT GT ./. 2 26699126 rs4335905 C G 579 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=149;DB;DBA=in-clinvar;PAF=NA;DB;DBA=in-clinvar;PAF=C/0.2921,A/.,G/0.7079;PC=0.015;Gene=OTOF/NM_004802.3/0;CC=c.495G>C;ProtCh=p.L165=;VC=Silent;Gene=OTOF/NM_194322.2/0;CC=c.666G>C;ProtCh=p.L222=;VC=Silent;Gene=OTOF/NM_194323.2/0;CC=c.495G>C;ProtCh=p.L165=;VC=Silent;Gene=OTOF/NM_001287489.1/0;CC=c.2736G>C;ProtCh=p.L912=;VC=Silent;Gene=OTOF/NM_194248.2/1;CC=c.2736G>C;ProtCh=p.L912=;VC=Silent;DM=OTOF/FerB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:149:106:0:0:149:5077:578.72:275.78:302.94:1.00:1.00:1.00:60:39.4:0:0:67:83:36:NM_194248.2(OTOF) c.2736G>C (p.(=)),NM_194248.2(OTOF) c.2736G>C (p.(=)):0.71,0.71:0.529792,0.529792 2 26699186 . C . . NT END=26699758;NT GT ./. 2 26699397 rs569183061 CCCCCACCTCCTT C 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CCCCCACCTCCTT/0.5513,C/0.4487;NP=12;Gene=OTOF/NM_004802.3/0;CC=c.436-224_436-213delAAGGAGGTGGGG;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.607-224_607-213delAAGGAGGTGGGG;VC=Intron;Gene=OTOF/NM_194323.2/0;CC=c.436-224_436-213delAAGGAGGTGGGG;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.2677-224_2677-213delAAGGAGGTGGGG;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2677-224_2677-213delAAGGAGGTGGGG;VC=Intron;DM=OTOF/FerB;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CCCCCACCTCCTT,C:7:0:0:4:3,4:62,124:0.00,12.25:0.00,0.00:0.00,12.25:0.00,0.90:0.00,0.00:0.00,0.90:60,60:97.7,12.2:0,0:0,0:146,112:5,38:0,7:-,NM_194248.2(OTOF) c.2677-224_2677-213delAAGGAGGTGGGG:-,NOT_FOUND:-,NOT_FOUND 2 26699855 rs2272069 G C 109 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=in-clinvar;PAF=G/0.4984,A/.,C/0.5016;Gene=OTOF/NM_004802.3/0;CC=c.339C>G;ProtCh=p.V113=;VC=Silent;Gene=OTOF/NM_194322.2/0;CC=c.510C>G;ProtCh=p.V170=;VC=Silent;Gene=OTOF/NM_194323.2/0;CC=c.339C>G;ProtCh=p.V113=;VC=Silent;Gene=OTOF/NM_001287489.1/0;CC=c.2580C>G;ProtCh=p.V860=;VC=Silent;Gene=OTOF/NM_194248.2/1;CC=c.2580C>G;ProtCh=p.V860=;VC=Silent;DM=OTOF/FerB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:88:62:0:0:36,52:1181,1621:109.44,0.00:56.38,0.00:53.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,8.8:0,0:0,0:92,69:58,69:34,35:NM_194248.2(OTOF) c.2580C>G (p.(=)),-:0.52,-:0.343798,- 2 26699912 . C . . NT END=26700039;NT GT ./. 2 26700099 rs80356570 G A 186 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=133;DB;DBA=in-clinvar;PAF=G/0.9938,A/0.00619;PC=0.955;Gene=OTOF/NM_004802.3/0;CC=c.223C>T;ProtCh=p.R75W;VC=Missense;Gene=OTOF/NM_194322.2/0;CC=c.394C>T;ProtCh=p.R132W;VC=Missense;Gene=OTOF/NM_194323.2/0;CC=c.223C>T;ProtCh=p.R75W;VC=Missense;Gene=OTOF/NM_001287489.1/0;CC=c.2464C>T;ProtCh=p.R822W;VC=Missense;Gene=OTOF/NM_194248.2/1;CC=c.2464C>T;ProtCh=p.R822W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:133:103:0:0:61,71,1:1967,2288,10:186.29,0.00,-0.16:106.18,0.00,-0.13:80.12,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.0,11.0,105.0:0,0,0:0,0,0:57,57,90:89,75,60:35,26,0:NM_194248.2(OTOF) c.2464C>T (p.Arg822Trp),-:0.01,-:0.018627,- 2 26700157 . C . . NT END=26700283;NT GT ./. 2 26700375 . C . . NT END=26700516;NT GT ./. 2 26700700 rs4665855 G A 143 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=102;DB;DBA=in-clinvar;PAF=G/0.3974,A/0.6026;Gene=OTOF/NM_004802.3/0;CC=c.-28+12C>T;VC=Intron;Gene=OTOF/NM_194322.2/0;CC=c.62C>T;ProtCh=p.P21L;VC=Missense;Gene=OTOF/NM_194323.2/0;CC=c.-28+12C>T;VC=Intron;Gene=OTOF/NM_001287489.1/0;CC=c.2215-83C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2215-83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:102:53:0:0:48,53,1:1507,1635,33:143.22,0.00,1.55:56.94,0.00,-0.08:86.27,0.00,1.63:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.2,4.6,116.0:0,0,0:0,0,0:72,97,45:63,47,106:34,30,0:NM_194248.2(OTOF) c.2215-83C>T,-:0.62,-:0.411004,- 2 26700819 rs55806442 TGG T 250 PASS VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=TGG/0.2754,T/0.7246;NP=579;Gene=OTOF/NM_004802.3/0;CC=c.-137_-136delCC;VC=5UTR;Gene=OTOF/NM_194322.2/0;CC=c.-60_-59delCC;VC=5UTR;Gene=OTOF/NM_194323.2/0;CC=c.-137_-136delCC;VC=5UTR;Gene=OTOF/NM_001287489.1/0;CC=c.2215-204_2215-203delCC;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2215-204_2215-203delCC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:TGG,T:76:41:0:71:5,71:140,2242:0.00,250.15:0.00,96.35:0.00,153.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,25.5:0,0:0,0:148,57:2,93:2,40:NM_194248.2(OTOF) c.2215-204_2215-203delCC,NM_194248.2(OTOF) c.2215-204_2215-203delCC:0.72,0.72:NOT_FOUND,NOT_FOUND 2 26700908 rs6749978 C G 243 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.2724,G/0.7276;PC=0.005;Gene=OTOF/NM_004802.3/0;CC=c.-224G>C;VC=5UTR;Gene=OTOF/NM_194322.2/0;CC=c.-147G>C;VC=5UTR;Gene=OTOF/NM_194323.2/0;CC=c.-224G>C;VC=5UTR;Gene=OTOF/NM_001287489.1/0;CC=c.2215-291G>C;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2215-291G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:37:0:0:66:2120:243.37:91.56:151.81:1.00:1.00:1.00:60:42.2:0:0:95:50:29:NM_194248.2(OTOF) c.2215-291G>C,NM_194248.2(OTOF) c.2215-291G>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 26700911 . C . . NT END=26702131;NT GT ./. 2 26701813 rs1815040 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2394,C/0.7606;PC=0.009;Gene=OTOF/NM_001287489.1/0;CC=c.2214+319A>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2214+319A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:48.6:0:0:32:118:19:NM_194248.2(OTOF) c.2214+319A>G,NM_194248.2(OTOF) c.2214+319A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 26702057 rs10714255 GT G 180 nt VT=DEL;SST=Single;DP=88;DB;DBA=NA;PAF=GT/0.4593,G/0.5407;NP=1218;Gene=OTOF/NM_001287489.1/0;CC=c.2214+74delA;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2214+74delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:88:78:0:56:32,56:1074,1786:0.00,180.27:0.00,137.45:0.00,42.82:0.00,1.00:0.00,1.00:0.00,1.00:60,70:40.1,11.0:0,0:0,0:39,46:110,100:23,25:-,NM_194248.2(OTOF) c.2214+74delA:-,0.56:-,NOT_FOUND 2 26702082 rs61323419 G A 163 nt VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.883,A/0.117;Gene=OTOF/NM_001287489.1/0;CC=c.2214+50C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.2214+50C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:99:0:0:54,61:1718,1928:163.01,0.00:111.95,0.00:51.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:35.7,10.7:0,0:0,0:35,48:109,98:25,23:NM_194248.2(OTOF) c.2214+50C>T,-:0.1,-:0.128627,- 2 26702253 . C . . NT END=26702340;NT GT ./. 2 26702508 rs72853741 G A 152 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=131;DB;DBA=in-clinvar;PAF=G/0.9802,A/0.01977;PC=0.961;Gene=OTOF/NM_001287489.1/0;CC=c.1926C>T;ProtCh=p.N642=;VC=Silent;Gene=OTOF/NM_194248.2/1;CC=c.1926C>T;ProtCh=p.N642=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:131:72:0:0:54,77:1645,2379:151.58,0.00:42.46,0.00:109.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,9.5:0,0:0,0:103,79:42,65:31,33:NM_194248.2(OTOF) c.1926C>T (p.(=)),-:0.02,-:0.032702,- 2 26702522 . C . . NT END=26703070;NT GT ./. 2 26703180 . C . . NT END=26703653;NT GT ./. 2 26703267 rs72853742 G C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9802,C/0.01977;Gene=OTOF/NM_001287489.1/0;CC=c.1804-88C>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.1804-88C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:2:0:0:8,8:232,230:22.20,0.00:2.17,0.00:20.03,0.00:1.00,0.00:0.79,0.00:1.00,0.00:60,60:44.5,23.4:0,0:0,0:126,59:19,92:21,42:NM_194248.2(OTOF) c.1804-88C>G,-:0.02,-:NOT_FOUND,- 2 26703369 rs6719195 A G 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.01957,G/0.9804;NP=468;Gene=OTOF/NM_001287489.1/0;CC=c.1804-190T>C;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.1804-190T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:2:0:0:6:190:21.86:7.15:14.71:1.00:1.00:1.00:60:56.2:0:0:83:67:36:NM_194248.2(OTOF) c.1804-190T>C,NM_194248.2(OTOF) c.1804-190T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 26703878 . C . . NT END=26705273;NT GT ./. 2 26705461 . C . . NT END=26706329;NT GT ./. 2 26706517 . C . . NT END=26707341;NT GT ./. 2 26706642 rs4665328 T C 116 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.4241,C/0.5759;Gene=OTOF/NM_001287489.1/0;CC=c.1206-126A>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.1206-126A>G;VC=Intron;DM=OTOF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:0:0:0:31:1016:116.37:0.00:116.37:1.00:0.00:1.00:60:39.9:0:0:98:53:34:NM_194248.2(OTOF) c.1206-126A>G,NM_194248.2(OTOF) c.1206-126A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 26707150 rs77126038 T C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.976,C/0.02396;Gene=OTOF/NM_001287489.1/0;CC=c.1205+192A>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.1205+192A>G;VC=Intron;DM=OTOF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,C,T:10:9:0:0:1,4,5:11,104,166:0.41,9.59,0.00:0.46,9.82,0.00:-0.05,-0.22,0.00:0.00,0.84,0.00:0.00,0.98,0.00:0.00,0.60,0.00:60,60,60:86.0,38.5,19.6:0,0,0:0,0,0:82,15,84:25,135,67:0,7,50:NM_194248.2(OTOF) c.1205+192A>G,-:0.02,-:NOT_FOUND,- 2 26707502 . C . . NT END=26712078;NT GT ./. 2 26711829 rs12052886 C A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7859,A/0.2141;PC=0.042;Gene=OTOF/NM_001287489.1/0;CC=c.1045+250G>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.1045+250G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,C:6:6:0:0:4,2:133,57:13.55,0.00:13.55,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:33.2,23.0:0,0:0,0:22,49:128,101:9,49:NM_194248.2(OTOF) c.1045+250G>T,-:0.21,-:NOT_FOUND,- 2 26712164 . C . . NT END=26712545;NT GT ./. 2 26712609 . C . . NT END=26717809;NT GT ./. 2 26717641 rs939814 A G 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.277,G/0.723;PC=0.008;Gene=OTOF/NM_001287489.1/0;CC=c.897+169T>C;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.897+169T>C;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:18:0:0:18:593:67.84:67.84:0.00:1.00:1.00:0.00:60:39.7:0:0:51:99:32:NM_194248.2(OTOF) c.897+169T>C,NM_194248.2(OTOF) c.897+169T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 2 26717942 . C . . NT END=26724621;NT GT ./. 2 26724677 . C . . NT END=26725167;NT GT ./. 2 26724725 rs6547079 T G 127 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.2997,G/0.7003;PC=0.043;Gene=OTOF/NM_001287489.1/0;CC=c.711-49A>C;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.711-49A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:14:0:0:34:1105:126.68:37.59:89.09:1.00:1.00:1.00:60:36.4:0:0:91:51:33:NM_194248.2(OTOF) c.711-49A>C,NM_194248.2(OTOF) c.711-49A>C:0.71,0.71:0.629786,0.629786 2 26725295 . C . . NT END=26726639;NT GT ./. 2 26726714 . C . . NT END=26733572;NT GT ./. 2 26726752 rs884390 G A 102 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.7003,A/0.2997;PC=0.002;Gene=OTOF/NM_001287489.1/0;CC=c.510-39C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.510-39C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:36:0:0:34,32:1056,1065:101.86,0.00:38.66,0.00:63.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,8.2:0,0:0,0:93,104:53,42:21,23:NM_194248.2(OTOF) c.510-39C>T,-:0.3,-:0.299247,- 2 26733500 rs939817 C T 84 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5124,T/0.4876;Gene=OTOF/NM_001287489.1/0;CC=c.509+5786G>A;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.509+5786G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C,G,T:27:23:0:0:1,1,25:14,10,738:0.00,0.28,83.75:0.00,0.28,62.14:0.00,0.00,21.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:35.0,43.0,46.0:0,0,0:0,0,0:127,33,58:16,118,93:0,0,31:NM_194248.2(OTOF) c.509+5786G>A,NM_194248.2(OTOF) c.509+5786G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 2 26733618 . C . . NT END=26739285;NT GT ./. 2 26733677 rs7582117 G A 90 nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.7212,A/0.2788;PC=1.000;Gene=OTOF/NM_001287489.1/0;CC=c.509+5609C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.509+5609C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:53:34:0:0:28,1,24:921,13,800:89.88,0.11,0.00:39.17,-0.07,0.00:50.71,0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.7,73.0,7.5:0,0,0:0,0,0:106,91,109:27,58,35:19,0,25:NM_194248.2(OTOF) c.509+5609C>T,-:0.29,-:NOT_FOUND,- 2 26739468 . C . . NT END=26741877;NT GT ./. 2 26739526 rs55682147 A G 246 nt VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.865,G/0.135;Gene=OTOF/NM_001287489.1/0;CC=c.328-59T>C;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.328-59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:65:23:0:0:65:2150:245.92:51.37:194.55:1.00:1.00:1.00:60:46.9:0:0:98:49:18:NM_194248.2(OTOF) c.328-59T>C,NM_194248.2(OTOF) c.328-59T>C:0.16,0.16:NOT_FOUND,NOT_FOUND 2 26741978 . C . . NT END=26750699;NT GT ./. 2 26750557 rs10865425 T C 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.05711,C/0.9429;Gene=OTOF/NM_001287489.1/0;CC=c.227+143A>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.227+143A>G;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:447:51.36:51.36:0.00:1.00:1.00:0.00:60:53.0:0:0:28:118:13:NM_194248.2(OTOF) c.227+143A>G,NM_194248.2(OTOF) c.227+143A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 26750645 rs1879760 G A 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3596,A/0.6404;Gene=OTOF/NM_001287489.1/0;CC=c.227+55C>T;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.227+55C>T;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:33:0:0:21,13:644,430:64.61,0.00:61.19,0.00:3.42,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:47.8,14.8:0,0:0,0:60,44:90,107:27,32:NM_194248.2(OTOF) c.227+55C>T,-:0.66,-:0.718134,- 2 26750789 . C . . NT END=26760583;NT GT ./. 2 26760643 . C . . NT END=26781360;NT GT ./. 2 26781247 rs4665880 G C 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7027,C/0.2973;Gene=OTOF/NM_001287489.1/0;CC=c.79+114C>G;VC=Intron;Gene=OTOF/NM_194248.2/1;CC=c.79+114C>G;VC=Intron;DM=OTOF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,G:12:12:0:0:9,3:306,99:31.96,0.00:31.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.1,10.7:0,0:0,0:31,47:119,104:13,1:NM_194248.2(OTOF) c.79+114C>G,-:0.31,-:NOT_FOUND,- 2 26781440 . G . . NT END=26785480;NT GT ./. 2 26781685 rs55751185 CGT C 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CGT/0.1478,C/0.8522;DB;DBA=NA;PAF=CGT/0.1478,C/0.8522;DB;DBA=NA;PAF=CGT/0.1478,C/0.8522;NP=26;PC=0.999;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:CGT,C:6:1:0:4:2,4:57,123:0.00,12.55:0.00,3.10:0.00,9.45:0.00,0.93:0.00,0.78:0.00,0.99:60,60:109.5,37.2:0,0:0,0:138,62:11,88:5,38:-,NM_001105519.1(C2orf70) c.1-u3795_1-u3794delGT:-,NOT_FOUND:-,NOT_FOUND 2 26785555 . G . . NT END=26798769;NT GT ./. 2 26798591 rs1148952 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4744,A/0.5256;Gene=C2orf70/NM_001105519.1/1;CC=c.75-179G>A;VC=Intron;DM=C2orf70/DUF2475 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:11,9:304,298:29.60,0.00:29.60,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.7,6.2:0,0:0,0:42,16:107,135:26,10:NM_001105519.1(C2orf70) c.75-179G>A,-:0.56,-:NOT_FOUND,- 2 26798893 rs13002673 A T 185 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=A/0.6655,G/.,T/0.3345;Gene=C2orf70/NM_001105519.1/1;CC=c.198A>T;ProtCh=p.Q66H;VC=Missense;DM=C2orf70/DUF2475 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:132:81:0:0:69,63:2210,1946:0.00,184.87:0.00,87.20:0.00,97.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,51.1:0,0:0,0:71,82:77,69:25,28:-,NM_001105519.1(C2orf70) c.198A>T (p.Gln66His):-,0.33:-,0.240237 2 26799031 rs2272464 G A 146 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.6402,A/0.3598;Gene=C2orf70/NM_001105519.1/1;CC=c.336G>A;ProtCh=p.T112=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:99:48:0:0:49,1,49:1519,9,1638:145.71,-0.14,0.00:49.72,-0.08,0.00:95.99,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.5,119.0,4.7:0,0,0:0,0,0:82,106,66:62,24,84:30,0,36:NM_001105519.1(C2orf70) c.336G>A (p.(=)),-:0.35,-:0.261247,- 2 26799044 . G . . NT END=26800383;NT GT ./. 2 26800422 rs1053807 G A 111 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.6587,A/0.3413;Gene=C2orf70/NM_001105519.1/1;CC=c.387G>A;ProtCh=p.T129=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:54:0:0:34,38:1161,1176:110.71,0.00:55.84,0.00:54.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,7.1:0,0:0,0:65,55:80,91:27,25:NM_001105519.1(C2orf70) c.387G>A (p.(=)),-:0.37,-:0.398348,- 2 26800497 . G . . NT END=26802161;NT GT ./. 2 26802307 . G . . NT END=26804230;NT GT ./. 2 26802392 rs2272467 A T 38 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6382,T/0.3618;PC=0.001;Gene=C2orf70/NM_001105519.1/1;CC=c.*86A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:4:0:0:13,14:378,399:0.00,38.43:0.00,5.18:0.00,33.25:0.00,1.00:0.00,0.95:0.00,1.00:60,60:5.3,38.4:0,0:0,0:78,68:72,83:30,22:-,NM_001105519.1(C2orf70) c.*86A>T:-,0.36:-,NOT_FOUND 2 26804122 rs744539 T G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3804,G/0.6196;PC=0.407;Gene=CIB4/NM_001029881.1/1;CC=c.*109A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:G,T:9:9:0:0:7,2:220,62:23.27,0.00:23.27,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:117.1,82.5:0,0:0,0:34,83:117,65:30,48:NM_001029881.1(CIB4) c.*109A>C,-:0.6,-:NOT_FOUND,- 2 26804143 rs744540 T C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3415,C/0.6585;Gene=CIB4/NM_001029881.1/1;CC=c.*88A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:C,T:10:10:0:0:8,2:267,65:28.34,0.00:28.34,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:127.9,33.0:0,0:0,0:34,35:113,115:17,20:NM_001029881.1(CIB4) c.*88A>G,-:0.64,-:NOT_FOUND,- 2 26804218 rs935171 G A 118 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.03854,A/0.9615;Gene=CIB4/NM_001029881.1/1;CC=c.*13C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A:33:31:0:0:33:1024:118.01:77.64:40.37:1.00:1.00:1.00:60:64.4:0:0:41:97:20:NM_001029881.1(CIB4) c.*13C>T,NM_001029881.1(CIB4) c.*13C>T:0.97,0.97:0.960326,0.960326 2 26804247 rs935172 T C 88 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.4149,C/0.5851;PC=1.000;Gene=CIB4/NM_001029881.1/1;CC=c.542A>G;ProtCh=p.H181R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:38:0:0:26,17:879,547:87.77,0.00:56.48,0.00:31.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.3,30.1:0,0:0,0:56,52:93,95:34,19:NM_001029881.1(CIB4) c.542A>G (p.His181Arg),-:0.58,-:0.509073,- 2 26804262 . C . . NT END=26805692;NT GT ./. 2 26805782 . C . . NT END=26806656;NT GT ./. 2 26806767 . C . . NT END=26818043;NT GT ./. 2 26818006 rs1148962 T C 214 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.1218,C/0.8782;Gene=CIB4/NM_001029881.1/1;CC=c.328+38A>G;VC=Intron;DM=CIB4/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:C:59:51:0:0:59:1857:213.66:139.88:73.78:1.00:1.00:1.00:60:75.3:0:0:37:114:23:NM_001029881.1(CIB4) c.328+38A>G,NM_001029881.1(CIB4) c.328+38A>G:0.88,0.88:0.842227,0.842227 2 26818021 rs1148963 C T 243 nt VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.2808,T/0.7192;Gene=CIB4/NM_001029881.1/1;CC=c.328+23G>A;VC=Intron;DM=CIB4/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A,C,T:67:57:0:0:1,2,64:12,33,2164:0.21,0.00,243.26:0.21,0.00,157.37:-0.01,0.00,85.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:51.0,90.5,69.3:0,1,0:0,0,0:127,88,52:24,59,94:0,60,29:NM_001029881.1(CIB4) c.328+23G>A,NM_001029881.1(CIB4) c.328+23G>A:0.76,0.76:0.687144,0.687144 2 26818186 . C . . NT END=26852277;NT GT ./. 2 26852375 . C . . NT END=26863400;NT GT ./. 2 26863436 . C . . NT END=26864128;NT GT ./. 2 26864183 . G . . NT END=26915743;NT GT ./. 2 26910027 . C CACACAG 7 nt VT=INS;SST=Single;DP=4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CACACAG:4:3:2:0:2,2:70,68:0.00,6.55:0.00,3.27:0.00,3.27:0.00,0.51:0.00,0.89:0.00,0.89:60,60:99.5,10.0:1,0:0,0:113,97:37,49:0,11:-,NM_002246.2(KCNK3) c.-163-u5554_-163-u5553insACACAG:-,NOT_FOUND:-,NOT_FOUND 2 26915624 rs12476527 G T 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.5745,T/0.4255;Gene=KCNK3/NM_002246.2/1;CC=c.-120G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C,T:25:25:0:0:1,24:8,773:0.20,88.28:0.20,78.48:0.00,9.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:92.0,45.9:0,0:0,0:115,19:36,130:0,10:NM_002246.2(KCNK3) c.-120G>T,NM_002246.2(KCNK3) c.-120G>T:0.44,0.44:NOT_FOUND,NOT_FOUND 2 26916027 . G . . NT END=26947354;NT GT ./. 2 26947370 rs1275920 A G 51 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.004393,G/0.9956;NP=33;PC=0.006;Gene=KCNK3/NM_002246.2/1;CC=c.284-3165A>G;VC=Intron;DM=KCNK3/Ion_trans_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:14:0:0:15:439:50.95:43.33:7.61:1.00:1.00:1.00:60:49.7:0:0:45:103:31:NM_002246.2(KCNK3) c.284-3165A>G,NM_002246.2(KCNK3) c.284-3165A>G:1,1:NOT_FOUND,NOT_FOUND 2 26947429 . g . . NT END=26950534;NT GT ./. 2 26947724 rs4665898 A G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6909,G/0.3091;Gene=KCNK3/NM_002246.2/1;CC=c.284-2811A>G;VC=Intron;DM=KCNK3/Ion_trans_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:65.5:0:0:66:84:10:NM_002246.2(KCNK3) c.284-2811A>G,NM_002246.2(KCNK3) c.284-2811A>G:0.35,0.35:NOT_FOUND,NOT_FOUND 2 26951437 . C . . NT END=26987217;NT GT ./. 2 26951449 rs1663002 G A 310 nt VT=SNV;PN=G;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.03734,A/0.9627;PC=0.998;Gene=KCNK3/NM_002246.2/1;CC=c.*13G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:90:32:0:0:89,1:2687,9:310.40,0.09:77.90,0.00:232.50,0.09:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,64.0:0,0:0,0:96,9:55,142:26,0:NM_002246.2(KCNK3) c.*13G>A,NM_002246.2(KCNK3) c.*13G>A:0.97,0.97:0.970274,0.970274 2 26957945 rs72656998 T A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=576 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:118:13.70:5.82:7.89:1.00:1.00:1.00:60:44.5:0:0:62:67:47:chr2 g.26957944T>A (intergenic),chr2 g.26957944T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 26987295 . G . . NT END=26987680;NT GT ./. 2 26987481 rs2252860 A G 138 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5485,G/0.4515;Gene=SLC35F6/NM_017877.3/1;CC=c.77+187A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:G:40:20:0:0:40:1195:138.31:64.73:73.57:1.00:1.00:1.00:60:73.3:0:0:77:71:38:NM_017877.3(C2orf18) c.77+187A>G,NM_017877.3(C2orf18) c.77+187A>G:0.44,0.44:NOT_FOUND,NOT_FOUND 2 26987488 rs2304337 G C 140 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.6969,C/0.3031;PC=0.001;Gene=SLC35F6/NM_017877.3/1;CC=c.77+194G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:C:39:20:0:0:39:1218:140.26:70.11:70.15:1.00:1.00:1.00:60:74.6:0:0:83:66:38:NM_017877.3(C2orf18) c.77+194G>C,NM_017877.3(C2orf18) c.77+194G>C:0.32,0.32:NOT_FOUND,NOT_FOUND 2 26987811 rs35277048 G A 453 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=123;DB;DBA=NA;PAF=G/0.7308,A/0.2692;PC=0.002;Gene=SLC35F6/NM_017877.3/1;CC=c.77+517G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:123:66:0:0:123:3948:453.26:163.59:289.67:1.00:1.00:1.00:60:39.1:0:0:84:62:37:NM_017877.3(C2orf18) c.77+517G>A,NM_017877.3(C2orf18) c.77+517G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 2 26987867 . G . . NT END=26997118;NT GT ./. 2 26988011 rs34995758 T A 61 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6967,A/0.3033;Gene=SLC35F6/NM_017877.3/1;CC=c.77+717T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:0:0:0:20:517:61.10:0.00:61.10:1.00:0.00:1.00:60:45.6:0:0:89:61:30:NM_017877.3(C2orf18) c.77+717T>A,NM_017877.3(C2orf18) c.77+717T>A:0.32,0.32:NOT_FOUND,NOT_FOUND 2 26997031 rs13007156 G A 172 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.7318,A/0.2682;Gene=SLC35F6/NM_017877.3/1;CC=c.78-88G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:A,G:50:47:0:0:48,2:1524,43:171.86,0.00:156.87,0.00:14.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,52.5:0,0:0,0:47,6:103,132:31,5:NM_017877.3(C2orf18) c.78-88G>A,NM_017877.3(C2orf18) c.78-88G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 2 26997192 . G . . NT END=26997911;NT GT ./. 2 26998084 . G . . NT END=26998331;NT GT ./. 2 26998545 . G . . NT END=26999239;NT GT ./. 2 26999351 . G . . NT END=27000909;NT GT ./. 2 27000611 rs71401511 A AGTGT 25 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6508,AGTGT/0.3492;DB;DBA=NA;PAF=A/0.6508,AGT/.,AGTGT/0.3492;NP=14;Gene=SLC35F6/NM_017877.3/1;CC=c.647-279_647-278insGTGT;VC=Intron;DM=SLC35F6/SLC35F;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:AGTGT:7:7:8:0:7:256:25.23:17.64:7.59:1.00:1.00:1.00:60:23.1:1:0:55:84:18:NM_017877.3(C2orf18) c.647-299_647-298insGTGT,NM_017877.3(C2orf18) c.647-299_647-298insGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 27001380 . G . . NT END=27009064;NT GT ./. 2 27009165 . G . . NT END=27014998;NT GT ./. 2 27009478 rs12467466 C T 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8419,T/0.1581;Gene=CENPA/NM_001809.3/1;CC=c.100+314C>T;VC=Intron;Gene=CENPA/NM_001042426.1/0;CC=c.100+314C>T;VC=Intron;DM=CENPA/Histone GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:0:0:0:13:404:46.60:0.00:46.60:1.00:0.00:1.00:60:42.6:0:0:112:37:35:NM_001809.3(CENPA) c.100+314C>T,NM_001809.3(CENPA) c.100+314C>T:0.19,0.19:NOT_FOUND,NOT_FOUND 2 27015109 . G . . NT END=27015623;NT GT ./. 2 27015702 . G . . NT END=27016012;NT GT ./. 2 27016148 . G . . NT END=27121367;NT GT ./. 2 27050055 rs561714363 CATTA C 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CATTA/0.594,C/0.406;DB;DBA=NA;PAF=CATTA/0.594,C/0.406;NP=2456;PC=1.000;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CATTA,C:4:4:0:3:1,3:35,84:0.00,8.85:0.00,9.15:0.00,-0.30:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,31.3:0,0:0,0:126,52:5,99:0,25:-,chr2 g.27050056_27050059delATTA (intergenic):-,0.43:-,NOT_FOUND 2 27107388 rs35489206 T TCTCACA 26 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=12;NP=14;NP=34;Gene=DPYSL5/NM_020134.3/0;CC=c.-4-13975_-4-13974insTCACAC;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.-4-13975_-4-13974insTCACAC;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.-4-13975_-4-13974insTCACAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:TCTCACA:7:4:8:0:7:263:26.23:9.55:16.68:1.00:1.00:1.00:70:2.4:1:0:65:69:26:NM_020134.3(DPYSL5) c.-4-13976_-4-13975insCTCACA,NM_020134.3(DPYSL5) c.-4-13976_-4-13975insCTCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 27121629 . G . . NT END=27147754;NT GT ./. 2 27147914 . G . . NT END=27150120;NT GT ./. 2 27150301 . G . . NT END=27151122;NT GT ./. 2 27150891 rs3769134 G A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6394,A/0.3606;PC=0.963;Gene=DPYSL5/NM_020134.3/0;CC=c.601-232G>A;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.601-232G>A;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.601-232G>A;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:266:30.42:30.42:0.00:1.00:1.00:0.00:60:38.9:0:0:57:93:19:NM_020134.3(DPYSL5) c.601-232G>A,NM_020134.3(DPYSL5) c.601-232G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 2 27151192 . G . . NT END=27154507;NT GT ./. 2 27154553 . G . . NT END=27156125;NT GT ./. 2 27156202 . G . . NT END=27157445;NT GT ./. 2 27156416 rs4665363 T G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.65,G/0.35;PC=0.001;Gene=DPYSL5/NM_020134.3/0;CC=c.790+215T>G;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.790+215T>G;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.790+215T>G;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:40.7:0:0:109:41:24:NM_020134.3(DPYSL5) c.790+215T>G,NM_020134.3(DPYSL5) c.790+215T>G:0.37,0.37:NOT_FOUND,NOT_FOUND 2 27157396 rs920437 G A 359 nt VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.65,A/0.35,T/.;Gene=DPYSL5/NM_020134.3/0;CC=c.791-50G>A;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.791-50G>A;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.791-50G>A;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:98:83:0:0:98:3122:358.67:273.54:85.13:1.00:1.00:1.00:60:68.6:0:0:45:104:24:NM_020134.3(DPYSL5) c.791-50G>A,NM_020134.3(DPYSL5) c.791-50G>A:0.37,0.37:0.357297,0.357297 2 27157400 rs920436 A G 362 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.03275,G/0.9673,T/.;Gene=DPYSL5/NM_020134.3/0;CC=c.791-46A>G;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.791-46A>G;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.791-46A>G;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:102:85:0:0:102:3136:361.93:264.30:97.64:1.00:1.00:1.00:60:66.6:0:0:41:105:26:NM_020134.3(DPYSL5) c.791-46A>G,NM_020134.3(DPYSL5) c.791-46A>G:0.97,0.97:0.964709,0.964709 2 27157603 . G . . NT END=27162898;NT GT ./. 2 27157788 rs920435 T C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6438,C/0.3562;Gene=DPYSL5/NM_020134.3/0;CC=c.947+186T>C;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.947+186T>C;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.947+186T>C;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:395:46.01:0.00:46.01:1.00:0.00:1.00:60:48.1:0:0:104:45:23:NM_020134.3(DPYSL5) c.947+186T>C,NM_020134.3(DPYSL5) c.947+186T>C:0.37,0.37:NOT_FOUND,NOT_FOUND 2 27163041 . G . . NT END=27164817;NT GT ./. 2 27163284 rs11126781 G A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.03275,A/0.9673;PC=0.004;Gene=DPYSL5/NM_020134.3/0;CC=c.1089+244G>A;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.1089+244G>A;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.1089+244G>A;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:1:0:0:8:226:26.34:3.68:22.66:1.00:1.00:1.00:60:98.5:0:0:83:67:19:NM_020134.3(DPYSL5) c.1089+244G>A,NM_020134.3(DPYSL5) c.1089+244G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 27163333 rs11126782 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.03315,G/0.9669;Gene=DPYSL5/NM_020134.3/0;CC=c.1089+293A>G;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.1089+293A>G;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.1089+293A>G;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:204:23.26:4.08:19.18:1.00:1.00:1.00:60:112.8:0:0:124:26:13:NM_020134.3(DPYSL5) c.1089+293A>G,NM_020134.3(DPYSL5) c.1089+293A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 27164961 . G . . NT END=27165410;NT GT ./. 2 27165202 rs3739086 T C 93 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.6198,C/0.3802;Gene=DPYSL5/NM_020134.3/0;CC=c.1233-209T>C;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.1233-209T>C;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.1233-209T>C;VC=Intron;DM=DPYSL5/Amidohydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:14:0:0:25:816:93.48:51.88:41.60:1.00:1.00:1.00:60:40.4:0:0:59:92:38:NM_020134.3(DPYSL5) c.1233-209T>C,NM_020134.3(DPYSL5) c.1233-209T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 2 27165619 . G . . NT END=27167523;NT GT ./. 2 27167693 . G . . NT END=27169777;NT GT ./. 2 27167784 rs3739088 C T 153 nt VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.6573,T/0.3427;Gene=DPYSL5/NM_020134.3/0;CC=c.1609+92C>T;VC=Intron;Gene=DPYSL5/NM_001253723.1/1;CC=c.1609+92C>T;VC=Intron;Gene=DPYSL5/NM_001253724.1/0;CC=c.1609+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T:44:7:0:0:44:1323:153.13:16.34:136.78:1.00:1.00:1.00:60:41.5:0:0:111:39:32:NM_020134.3(DPYSL5) c.1609+92C>T,NM_020134.3(DPYSL5) c.1609+92C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 2 27169864 . A . . NT END=27245086;NT GT ./. 2 27170941 rs67138052 CCA C,CCACA 13 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=50;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:6:CCA,CCACA,C:6:5:4:1:1,4,1:28,127,34:0.00,13.43,3.02:0.00,10.43,3.02:0.00,3.00,0.00:0.00,0.93,0.00:0.00,0.99,0.00:0.00,0.78,0.00:60,60,60:7.0,4.5,0.0:0,0,0:0,0,0:124,30,43:27,119,108:0,11,0:NM_020134.3(DPYSL5) c.*1080AC[17],NM_020134.3(DPYSL5) c.*1114_*1115dupAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 27245208 . G . . NT END=27246199;NT GT ./. 2 27245475 rs7355650 T C 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6611,C/0.3389;PC=0.072;Gene=MAPRE3/NM_012326.3/0;CC=c.121+268T>C;VC=Intron;Gene=MAPRE3/NM_001303050.1/1;CC=c.121+268T>C;VC=Intron;DM=MAPRE3/CH;DM=MAPRE3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,C:9:0:0:0:1,8:8,246:0.42,27.96:0.00,0.00:0.42,27.96:0.00,1.00:0.00,0.00:0.00,1.00:12,60:179.0,53.0:0,0:0,0:108,124:19,22:0,24:NM_012326.2(MAPRE3) c.121+268T>C,NM_012326.2(MAPRE3) c.121+268T>C:0.34,0.34:NOT_FOUND,NOT_FOUND 2 27246285 rs10865456 C T 392 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.1198,T/0.8802;PC=0.001;Gene=MAPRE3/NM_012326.3/0;CC=c.207C>T;ProtCh=p.H69=;VC=Silent;Gene=MAPRE3/NM_001303050.1/1;CC=c.207C>T;ProtCh=p.H69=;VC=Silent;DM=MAPRE3/CH;DM=MAPRE3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:105:63:0:0:105:3423:392.23:155.38:236.85:1.00:1.00:1.00:60:40.8:0:0:81:69:40:NM_012326.2(MAPRE3) c.=,NM_012326.2(MAPRE3) c.=:0.87,0.87:0.900969,0.900969 2 27246346 . G . . NT END=27246963;NT GT ./. 2 27247166 . G . . NT END=27248450;NT GT ./. 2 27248606 . G . . NT END=27248747;NT GT ./. 2 27248901 . G . . NT END=27249147;NT GT ./. 2 27249217 . G . . NT END=27255883;NT GT ./. 2 27256035 . G . . NT END=27256934;NT GT ./. 2 27257135 . G . . NT END=27258002;NT GT ./. 2 27258154 . G . . NT END=27258461;NT GT ./. 2 27258597 . G . . NT END=27258837;NT GT ./. 2 27258921 . G . . NT END=27259354;NT GT ./. 2 27259461 . G . . NT END=27259572;NT GT ./. 2 27259655 . G . . NT END=27259944;NT GT ./. 2 27259931 rs374468266 C T 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=TMEM214/NM_001083590.1/0;CC=c.774-14C>T;VC=Intron;Gene=TMEM214/NM_017727.4/1;CC=c.909-14C>T;VC=Intron;DM=TMEM214/DUF2359;DM=TMEM214/DUF2359 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:41:0:0:22,22:741,714:0.00,68.65:0.00,44.94:0.00,23.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,38.3:0,0:0,0:45,44:103,96:16,26:-,NM_017727.4(TMEM214) c.909-14C>T:-,NOT_FOUND:-,0.000081 2 27260047 . G . . NT END=27260428;NT GT ./. 2 27260469 rs1124649 G A 327 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.6969,A/0.3031;PC=1.000;Gene=TMEM214/NM_001083590.1/0;CC=c.916G>A;ProtCh=p.V306M;VC=Missense;Gene=TMEM214/NM_017727.4/1;CC=c.1051G>A;ProtCh=p.V351M;VC=Missense;DM=TMEM214/DUF2359 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:89:63:0:0:89:2843:326.58:172.06:154.52:1.00:1.00:1.00:60:41.8:0:0:69:82:36:NM_017727.4(TMEM214) c.1051G>A (p.Val351Met),NM_017727.4(TMEM214) c.1051G>A (p.Val351Met):0.28,0.28:0.341483,0.341483 2 27260571 . G . . NT END=27260657;NT GT ./. 2 27260761 . G . . NT END=27260899;NT GT ./. 2 27261106 . G . . NT END=27261351;NT GT ./. 2 27261329 rs11690454 A G 363 nt VT=SNV;PN=T;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.01937,G/0.9806,T/.;Gene=TMEM214/NM_001083590.1/0;CC=c.1110-23A>G;VC=Intron;Gene=TMEM214/NM_017727.4/1;CC=c.1245-23A>G;VC=Intron;DM=TMEM214/DUF2359 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:97:67:0:0:97:3172:363.34:191.05:172.29:1.00:1.00:1.00:60:41.5:0:0:69:78:37:NM_017727.4(TMEM214) c.1245-23A>G,NM_017727.4(TMEM214) c.1245-23A>G:0.98,0.98:0.982083,0.982083 2 27261401 . G . . NT END=27261569;NT GT ./. 2 27261684 . G . . NT END=27261914;NT GT ./. 2 27262033 . G . . NT END=27262608;NT GT ./. 2 27262706 . G . . NT END=27262897;NT GT ./. 2 27262763 rs59935461 GGGA G 153 nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=GGGA/0.03554,G/0.9645;DB;DBA=NA;PAF=GGGA/0.03554,G/0.9645;NP=3439;PC=0.312;Gene=TMEM214/NM_001083590.1/0;CC=c.1487+64_1487+66delAGG;VC=Intron;Gene=TMEM214/NM_017727.4/1;CC=c.1622+64_1622+66delAGG;VC=Intron;DM=TMEM214/DUF2359;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:GGGA,G:52:30:0:45:7,45:226,1404:0.00,152.93:0.00,93.20:0.00,59.73:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,3.7:0,0:0,0:140,71:5,79:6,30:-,NM_017727.4(TMEM214) c.1622+59_1622+61delGGA:-,0.97:-,NOT_FOUND 2 27263067 . G . . NT END=27263212;NT GT ./. 2 27263365 . G . . NT END=27263578;NT GT ./. 2 27263706 . G . . NT END=27275826;NT GT ./. 2 27276042 . G . . NT END=27276269;NT GT ./. 2 27276442 . G . . NT END=27276763;NT GT ./. 2 27276928 . G . . NT END=27277497;NT GT ./. 2 27277274 rs10181551 G A 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.781,A/0.219;PC=0.009;Gene=AGBL5/NM_001035507.2/0;CC=c.552-224G>A;VC=Intron;Gene=AGBL5/NM_021831.5/1;CC=c.552-224G>A;VC=Intron;Gene=AGBL5/NR_104246.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:35.2:0:0:16:135:8:NM_021831.5(AGBL5) c.552-224G>A,NM_021831.5(AGBL5) c.552-224G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 2 27277676 . G . . NT END=27277942;NT GT ./. 2 27278122 . G . . NT END=27278549;NT GT ./. 2 27279007 . G . . NT END=27279490;NT GT ./. 2 27279416 rs2384570 A G 123 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.03335,G/0.9667;Gene=AGBL5/NM_001035507.2/0;CC=c.1366-75A>G;VC=Intron;Gene=AGBL5/NM_021831.5/1;CC=c.1366-75A>G;VC=Intron;Gene=AGBL5/NR_104246.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:G:36:33:0:0:36:1060:122.92:101.75:21.17:1.00:1.00:1.00:60:35.1:0:0:53:96:29:NM_021831.5(AGBL5) c.1366-75A>G,NM_021831.5(AGBL5) c.1366-75A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 27279661 . G . . NT END=27280170;NT GT ./. 2 27279820 rs2018138 T C 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.05032,C/0.9497;Gene=AGBL5/NM_001035507.2/0;CC=c.1535+160T>C;VC=Intron;Gene=AGBL5/NM_021831.5/1;CC=c.1535+160T>C;VC=Intron;Gene=AGBL5/NR_104246.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C:13:0:0:0:13:342:40.22:0.00:40.22:1.00:0.00:1.00:60:49.1:0:0:87:63:30:NM_021831.5(AGBL5) c.1535+160T>C,NM_021831.5(AGBL5) c.1535+160T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 27280307 . G . . NT END=27281267;NT GT ./. 2 27281471 . G . . NT END=27282057;NT GT ./. 2 27282404 . C . . NT END=27290361;NT GT ./. 2 27290515 . G . . NT END=27291499;NT GT ./. 2 27293132 . T . . NT END=27294216;NT GT ./. 2 27294331 . C . . NT END=27301933;NT GT ./. 2 27302104 . G . . NT END=27303018;NT GT ./. 2 27303139 . G . . NT END=27303599;NT GT ./. 2 27303755 rs2736976 A G 373 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.03115,A/0.9688,C/.;PC=0.004;Gene=EMILIN1/NM_007046.3/1;CC=c.446A>G;ProtCh=p.Q149R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:106:61:0:0:105,1:3234,13:372.91,0.18:141.20,0.18:231.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,83.0:0,0:0,0:80,112:66,20:37,0:NM_007046.3(EMILIN1) c.=,NM_007046.3(EMILIN1) c.=:0.97,0.97:0.976212,0.976212 2 27303821 . G . . NT END=27304950;NT GT ./. 2 27303976 . CGTGTGT C 16 idl,rn VT=DEL;SST=Single;DP=9;NP=2;PC=0.011;Gene=EMILIN1/NM_007046.3/1;CC=c.511+191_511+196delGTGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:CGTGTGT,C:7:2:0:7:2,5:62,202:0.00,15.50:0.00,6.84:0.00,8.66:0.00,0.96:0.00,0.84:0.00,0.99:60,60:17.0,36.0:0,2:0,0:138,56:12,95:1,28:-,NM_007046.3(EMILIN1) c.511+157_511+162delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 27306455 rs36035398 C T 181 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.9984,T/0.001597;NP=56;PC=0.002;Gene=EMILIN1/NM_007046.3/1;CC=c.2016C>T;ProtCh=p.G672=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:123:75:0:0:60,63:1929,1877:0.00,180.64:0.00,84.29:0.00,96.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,44.0:0,0:0,0:95,55:55,95:33,38:-,NM_007046.3(EMILIN1) c.2016C>T (p.(=)):-,0.0014:-,0.007074 2 27306880 . G . . NT END=27307282;NT GT ./. 2 27307400 . G . . NT END=27307858;NT GT ./. 2 27307877 . G . . NT END=27308027;NT GT ./. 2 27308166 . G . . NT END=27308545;NT GT ./. 2 27308884 . A . . NT END=27310127;NT GT ./. 2 27310220 . G . . NT END=27315199;NT GT ./. 2 27315252 rs2304681 G A 283 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.6685,A/0.3315;PC=1.000;Gene=KHK/NM_000221.2/1;CC=c.145G>A;ProtCh=p.V49I;VC=Missense;Gene=KHK/NM_006488.2/0;CC=c.145G>A;ProtCh=p.V49I;VC=Missense;DM=KHK/PfkB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:76:50:0:0:75,1:2488,7:283.09,0.00:118.15,0.00:164.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,13.0:0,0:0,0:91,110:58,41:29,0:NM_000221.2(KHK) c.145G>A (p.Val49Ile),NM_000221.2(KHK) c.145G>A (p.Val49Ile):0.34,0.34:0.35599,0.35599 2 27315317 . G . . NT END=27317341;NT GT ./. 2 27317480 . G . . NT END=27317667;NT GT ./. 2 27317803 . G . . NT END=27319596;NT GT ./. 2 27319670 . G . . NT END=27320370;NT GT ./. 2 27319826 rs9677784 A G 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.02596,G/0.974;PC=0.001;Gene=KHK/NM_000221.2/1;CC=c.417+157A>G;VC=Intron;Gene=KHK/NM_006488.2/0;CC=c.417+157A>G;VC=Intron;DM=KHK/PfkB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:401:46.25:0.00:46.25:1.00:0.00:1.00:60:47.9:0:0:105:46:29:NM_000221.2(KHK) c.417+157A>G,NM_000221.2(KHK) c.417+157A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 27320518 . G . . NT END=27322063;NT GT ./. 2 27321887 rs4665944 A G 37 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.01558,G/0.9844;PC=0.011;Gene=KHK/NM_000221.2/1;CC=c.565-177A>G;VC=Intron;Gene=KHK/NM_006488.2/0;CC=c.565-177A>G;VC=Intron;DM=KHK/PfkB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:G:13:12:0:0:13:309:36.81:35.26:1.54:1.00:1.00:1.00:60:51.8:0:0:54:97:34:NM_000221.2(KHK) c.565-177A>G,NM_000221.2(KHK) c.565-177A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 27322153 . G . . NT END=27322287;NT GT ./. 2 27322446 . G . . NT END=27322532;NT GT ./. 2 27322619 . G . . NT END=27322651;NT GT ./. 2 27322709 . C . . NT END=27323283;NT GT ./. 2 27323385 rs1131375 C T 224 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.7083,T/0.2917;PC=0.001;Gene=KHK/NM_000221.2/1;CC=c.*767C>T;VC=3UTR;Gene=KHK/NM_006488.2/0;CC=c.*767C>T;VC=3UTR;Gene=CGREF1/NM_001166240.1/0;CC=c.343-677G>A;VC=Intron;Gene=CGREF1/NM_001301324.1/0;CC=c.312G>A;ProtCh=p.L104=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:A,G,T:64:42:0:0:1,1,62:12,8,1958:0.23,0.09,224.46:0.00,0.09,104.67:0.23,0.00,119.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:71.0,30.0,49.4:0,0,0:0,0,0:117,144,95:32,7,51:0,0,31:NM_000221.2(KHK) c.*767C>T,NM_000221.2(KHK) c.*767C>T:0.31,0.31:0.302891,0.302891 2 27323411 . C . . NT END=27323631;NT GT ./. 2 27323468 rs4665371 A C 150 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.01378,C/0.9862,G/.;PC=0.004;Gene=KHK/NM_000221.2/1;CC=c.*850A>C;VC=3UTR;Gene=KHK/NM_006488.2/0;CC=c.*850A>C;VC=3UTR;Gene=CGREF1/NM_001166240.1/0;CC=c.343-760T>G;VC=Intron;Gene=CGREF1/NM_001301324.1/0;CC=c.287-58T>G;VC=Intron;Gene=CGREF1/NM_001166239.1/0;CC=c.*674T>G;VC=3UTR;Gene=CGREF1/NM_006569.5/1;CC=c.*674T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:A,C,G:44:14:0:0:1,42,1:11,1325,10:0.00,150.43,0.19:0.00,40.24,0.19:0.00,110.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:77.0,57.9,51.0:0,0,0:0,0,0:122,104,61:28,46,89:0,30,0:NM_000221.2(KHK) c.=,NM_000221.2(KHK) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 2 27324340 rs11893427 G A 234 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=55;Gene=CGREF1/NM_001166240.1/0;CC=c.342+625C>T;VC=Intron;Gene=CGREF1/NM_001301324.1/0;CC=c.286+543C>T;VC=Intron;Gene=CGREF1/NM_001166239.1/0;CC=c.759C>T;ProtCh=p.P253=;VC=Silent;Gene=CGREF1/NM_006569.5/1;CC=c.759C>T;ProtCh=p.P253=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:215:145:0:0:86,10,116,3:2525,103,2922,34:233.79,1.63,0.00,-0.15:99.96,2.49,0.00,0.02:133.83,-0.87,0.00,-0.17:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:69.8,61.2,28.0,66.3:0,0,0,0:0,0,0,0:120,120,23,118:25,29,124,33:13,13,12,20:NM_006569.5(CGREF1) c.759C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 27324354 rs1057391 C T 134 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=219;DB;DBA=NA;PAF=NA;Gene=CGREF1/NM_001166240.1/0;CC=c.342+611G>A;VC=Intron;Gene=CGREF1/NM_001301324.1/0;CC=c.286+529G>A;VC=Intron;Gene=CGREF1/NM_001166239.1/0;CC=c.745G>A;ProtCh=p.E249K;VC=Missense;Gene=CGREF1/NM_006569.5/1;CC=c.745G>A;ProtCh=p.E249K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:219:149:0:1:1,158,1,59:9,4514,14,1607:-0.30,0.00,-0.21,133.79:-0.15,0.00,-0.20,62.72:-0.15,0.00,-0.01,71.06:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:21,60,60,60:78.0,27.5,14.0,85.0:0,0,0,0:0,0,0,0:104,28,43,129:26,115,74,19:0,17,0,9:-,NM_006569.5(CGREF1) c.745G>A (p.Glu249Lys):-,0.02:-,NOT_FOUND 2 27324371 rs1057389 C T 65 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=248;DB;DBA=NA;PAF=NA;NP=2;Gene=CGREF1/NM_001166240.1/0;CC=c.342+594G>A;VC=Intron;Gene=CGREF1/NM_001301324.1/0;CC=c.286+512G>A;VC=Intron;Gene=CGREF1/NM_001166239.1/0;CC=c.728G>A;ProtCh=p.G243E;VC=Missense;Gene=CGREF1/NM_006569.5/1;CC=c.728G>A;ProtCh=p.G243E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:248:142:0:0:2,217,29:21,6557,899:-0.56,0.00,65.11:-0.34,0.00,13.12:-0.22,0.00,52.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:64.5,27.1,101.0:0,0,0:0,0,0:34,42,139:97,105,12:25,20,4:-,NM_006569.5(CGREF1) c.728G>A (p.Gly243Glu):-,NOT_FOUND:-,NOT_FOUND 2 27324757 . C . . NT END=27324964;NT GT ./. 2 27325090 . C . . NT END=27325227;NT GT ./. 2 27325299 . C . . NT END=27325393;NT GT ./. 2 27325460 . C . . NT END=27325802;NT GT ./. 2 27325837 rs4665372 T A 333 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.6052,A/0.3948;Gene=CGREF1/NM_001166240.1/0;CC=c.81-378A>T;VC=Intron;Gene=CGREF1/NM_001301324.1/0;CC=c.14-378A>T;VC=Intron;Gene=CGREF1/NM_001166239.1/0;CC=c.81-378A>T;VC=Intron;Gene=CGREF1/NM_006569.5/1;CC=c.81-378A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:93:64:0:0:93:2891:333.30:195.44:137.86:1.00:1.00:1.00:60:39.1:0:0:68:80:40:NM_006569.5(CGREF1) c.81-378A>T,NM_006569.5(CGREF1) c.81-378A>T:0.42,0.42:NOT_FOUND,NOT_FOUND 2 27325962 . A . . NT END=27327154;NT GT ./. 2 27326922 rs7601733 C G,T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03415,T/0.9659 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:G,T:4:4:0:0:1,3:11,84:0.98,9.45:0.98,9.45:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:158.0,45.7:0,0:0,0:28,26:90,123:0,18:NM_006569.5(CGREF1) c.80+233G>C,NM_006569.5(CGREF1) c.80+233G>A:NOT_FOUND,0.97:NOT_FOUND,NOT_FOUND 2 27327235 . C . . NT END=27346816;NT GT ./. 2 27346931 . G . . NT END=27351308;NT GT ./. 2 27351470 . G . . NT END=27351812;NT GT ./. 2 27351948 rs6715286 T G 359 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.01657,T/0.9834;PC=0.025;Gene=ABHD1/NM_032604.3/1;CC=c.411T>G;ProtCh=p.D137E;VC=Missense;DM=ABHD1/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:93:58:0:0:93:3150:359.29:168.88:190.41:1.00:1.00:1.00:60:40.9:0:0:81:66:32:NM_032604.3(ABHD1) c.=,NM_032604.3(ABHD1) c.=:0.99,0.99:0.983469,0.983469 2 27351996 . G . . NT END=27352183;NT GT ./. 2 27352230 . G . . NT END=27352381;NT GT ./. 2 27352495 . G . . NT END=27352621;NT GT ./. 2 27352796 . G . . NT END=27352972;NT GT ./. 2 27353022 . G . . NT END=27353094;NT GT ./. 2 27353285 . G . . NT END=27353400;NT GT ./. 2 27353507 rs2304678 G C 161 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.7935,A/.,C/0.2065;PC=0.873;Gene=ABHD1/NM_032604.3/1;CC=c.1113G>C;ProtCh=p.W371C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:113:74:0:0:52,61:1704,1985:161.27,0.00:72.61,0.00:88.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.0,6.7:0,0:0,0:86,86:62,65:37,37:NM_032604.3(ABHD1) c.1113G>C (p.Trp371Cys),-:0.22,-:0.198524,- 2 27353613 . C . . NT END=27354281;NT GT ./. 2 27353630 rs41288799 G C 61 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.9912,C/0.008786;PC=0.046;Gene=ABHD1/NM_032604.3/1;CC=c.*18G>C;VC=3UTR;Gene=PREB/NM_013388.4/1;CC=c.*652C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:43:9:0:0:19,24:643,796:60.55,0.00:9.66,0.00:50.89,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:50.4,13.1:0,0:0,0:106,117:44,32:34,24:NM_013388.4(PREB) c.*652C>G,-:0.02,-:0.02791,- 2 27354173 rs11126874 C A 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.02057,A/0.9794;Gene=PREB/NM_013388.4/1;CC=c.*109G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:11:0:0:12:386:44.30:40.22:4.08:1.00:1.00:1.00:60:47.2:0:0:65:77:43:NM_013388.4(PREB) c.=,NM_013388.4(PREB) c.=:0.98,0.98:NOT_FOUND,NOT_FOUND 2 27354377 . C . . NT END=27354539;NT GT ./. 2 27354700 . C . . NT END=27354877;NT GT ./. 2 27354951 . C . . NT END=27355097;NT GT ./. 2 27354971 rs11695930 C T 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.8275,T/0.1725;Gene=PREB/NM_013388.4/1;CC=c.927-21G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:21:0:0:22,16:708,457:0.00,42.05:0.00,7.83:0.00,34.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.9,47.0:0,0:0,0:81,104:53,39:38,31:-,NM_013388.4(PREB) c.927-21G>A:-,0.19:-,0.159234 2 27355272 . C . . NT END=27355470;NT GT ./. 2 27355454 rs4665948 A C 203 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.01577,C/0.9842;NP=3454;Gene=PREB/NM_013388.4/1;CC=c.752+17T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:A,C:60:43:0:1:2,58:22,1784:0.00,202.71:0.00,113.13:0.00,89.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.5,48.4:0,0:0,0:46,57:104,94:37,32:NM_013388.4(PREB) c.752+17T>G,NM_013388.4(PREB) c.752+17T>G:0.99,0.99:0.98393,0.98393 2 27355596 . C . . NT END=27355710;NT GT ./. 2 27355792 . C . . NT END=27355984;NT GT ./. 2 27355991 rs2289358 G T 105 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.8073,C/.,T/0.1927;PC=0.999;Gene=PREB/NM_013388.4/1;CC=c.540C>A;ProtCh=p.V180=;VC=Silent;DM=PREB/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:77:56:0:0:42,35:1374,1109:0.00,104.53:0.00,80.23:0.00,24.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,40.9:0,0:0,0:42,52:99,99:27,27:-,NM_013388.4(PREB) c.540C>A (p.(=)):-,0.21:-,0.180225 2 27356206 . C . . NT END=27356399;NT GT ./. 2 27356278 rs2289359 T C 73 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.8037,C/0.1963,G/.;Gene=PREB/NM_013388.4/1;CC=c.326-73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:21:0:0:24,25:759,783:72.62,0.00:28.02,0.00:44.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,10.9:0,0:0,0:118,77:33,74:22,31:NM_013388.4(PREB) c.326-73A>G,-:0.21,-:NOT_FOUND,- 2 27356590 . C . . NT END=27357154;NT GT ./. 2 27356929 rs72810711 G C 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.774,C/0.226;PC=0.060;Gene=PREB/NM_013388.4/1;CC=c.135+226C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,G:7:5:0:0:3,4:85,127:7.85,0.00:6.49,0.00:1.36,0.00:0.69,0.00:0.93,0.00:0.73,0.00:60,60:49.0,8.8:0,0:0,0:106,23:45,127:32,14:NM_013388.4(PREB) c.135+226C>G,-:0.21,-:NOT_FOUND,- 2 27357447 . C . . NT END=27359930;NT GT ./. 2 27357619 rs11678061 C T 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8067,T/0.1933;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,T:15:0:0:0:5,10:162,309:0.00,31.50:0.00,0.00:0.00,31.50:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.6,46.2:0,0:0,0:123,127:28,24:16,19:-,NM_013388.4(PREB) c.-253-u77G>A:-,0.21:-,NOT_FOUND 2 27360291 . G . . NT END=27360294;NT GT ./. 2 27360303 . C T 568 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=389;PC=1.000;Gene=PRR30/NM_178553.3/1;CC=c.895G>A;ProtCh=p.G299S;VC=Missense;DM=PRR30/DUF4679 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,D:389:259:0:1:208,1,179,1:6232,7,5990,11:0.00,-0.26,568.43,-0.23:0.00,-0.12,294.65,-0.14:0.00,-0.13,273.78,-0.09:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,3,60,60:10.9,19.0,38.9,158.0:0,0,0,1:0,0,0,0:78,108,78,28:65,22,61,123:43,0,37,0:-,NM_178553.3(C2orf53) c.895G>A (p.Gly299Ser):-,NOT_FOUND:-,NOT_FOUND 2 27361031 . G . . NT END=27361048;NT GT ./. 2 27361246 rs2304680 C T 241 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=177;DB;DBA=NA;PAF=C/0.74,T/0.26;Gene=PRR30/NM_178553.3/1;CC=c.-49G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:177:97:0:0:1,94,82:9,3003,2546:-0.20,0.00,240.82:-0.09,0.00,84.47:-0.11,0.00,156.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:64.0,7.7,37.0:0,0,0:0,0,0:100,78,88:35,64,57:0,41,30:-,NM_178553.3(C2orf53) c.-49G>A:-,0.26:-,0.257767 2 27361288 . T . . NT END=27372001;NT GT ./. 2 27372224 . G . . NT END=27372990;NT GT ./. 2 27373234 . G . . NT END=27375555;NT GT ./. 2 27375828 . C . . NT END=27423303;NT GT ./. 2 27423448 . C . . NT END=27423865;NT GT ./. 2 27423646 rs1275519 T C 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2021,C/0.7979;Gene=SLC5A6/NM_021095.2/1;CC=c.1765-199A>G;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:5:0:0:14:397:46.27:18.68:27.59:1.00:1.00:1.00:60:36.9:0:0:43:107:31:NM_021095.2(SLC5A6) c.1765-199A>G,NM_021095.2(SLC5A6) c.1765-199A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 27423982 . C . . NT END=27424217;NT GT ./. 2 27424322 . C . . NT END=27424533;NT GT ./. 2 27424496 rs1006898 G A 163 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.2023,A/0.7977;Gene=SLC5A6/NM_021095.2/1;CC=c.1544+38C>T;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A,T:47:34:0:0:46,1:1419,18:163.34,0.69:106.21,0.69:57.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.1,89.0:0,0:0,0:49,68:100,83:36,0:NM_021095.2(SLC5A6) c.1544+38C>T,NM_021095.2(SLC5A6) c.1544+38C>T:0.84,0.84:0.777257,0.777257 2 27424636 rs1395 G A 162 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=G/0.4675,A/0.5325;PC=0.734;Gene=SLC5A6/NM_021095.2/1;CC=c.1442C>T;ProtCh=p.S481F;VC=Missense;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:116:91:0:0:55,61:1704,1982:161.72,0.00:91.76,0.00:69.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.5,6.2:0,0:0,0:60,66:85,74:32,35:NM_021095.2(SLC5A6) c.1442C>T (p.Ser481Phe),-:0.62,-:0.541366,- 2 27424716 . C . . NT END=27424855;NT GT ./. 2 27424943 . C . . NT END=27425680;NT GT ./. 2 27426214 . C . . NT END=27426646;NT GT ./. 2 27426362 rs2580761 G A 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7354,A/0.2646;Gene=SLC5A6/NM_021095.2/1;CC=c.1095-149C>T;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:2:0:0:8,11:245,344:22.68,0.00:7.10,0.00:15.58,0.00:0.99,0.00:0.72,0.00:1.00,0.00:60,60:43.1,18.1:0,0:0,0:97,124:53,27:41,16:NM_021095.2(SLC5A6) c.1095-149C>T,-:0.23,-:NOT_FOUND,- 2 27426514 rs1275521 G C 42 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.09964,C/0.9004;Gene=SLC5A6/NM_021095.2/1;CC=c.1094+133C>G;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:10:0:0:11:367:41.95:38.17:3.78:1.00:1.00:1.00:60:37.3:0:0:86:65:52:NM_021095.2(SLC5A6) c.1094+133C>G,NM_021095.2(SLC5A6) c.1094+133C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 27426736 . C . . NT END=27427328;NT GT ./. 2 27426878 rs1275522 C T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4531,T/0.5469;Gene=SLC5A6/NM_021095.2/1;CC=c.1006-143G>A;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:10:1:0:0:6,4:201,131:0.00,12.09:0.00,3.38:0.00,8.71:0.00,0.84:0.00,0.60:0.00,0.98:60,60:0.0,32.8:0,0:0,0:122,112:28,39:9,15:-,NM_021095.2(SLC5A6) c.1006-143G>A:-,0.62:-,NOT_FOUND 2 27427459 . C . . NT END=27427658;NT GT ./. 2 27427800 . C . . NT END=27428217;NT GT ./. 2 27428147 rs1298361 A G 178 nt VT=SNV;PN=C;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.004992,G/0.995;NP=3340;PC=0.001;Gene=SLC5A6/NM_021095.2/1;CC=c.734+71T>C;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:G,T:54:46:0:0:53,1:1541,13:178.41,0.31:132.33,0.31:46.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,42.0:0,0:0,0:29,126:120,24:22,0:NM_021095.2(SLC5A6) c.734+71T>C,NM_021095.2(SLC5A6) c.734+71T>C:1,1:NOT_FOUND,NOT_FOUND 2 27428295 rs1275524 A G 427 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.001398,G/0.9986;NP=3469;PC=0.007;Gene=SLC5A6/NM_021095.2/1;CC=c.657T>C;ProtCh=p.I219=;VC=Silent;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:118:90:0:0:2,116:17,3750:0.00,427.00:0.00,222.51:0.00,204.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:91.5,37.6:0,0:0,0:122,75:26,65:12,35:NM_021095.2(SLC5A6) c.=,NM_021095.2(SLC5A6) c.=:1,1:0.99877,0.99877 2 27428373 . C . . NT END=27428893;NT GT ./. 2 27428702 rs1275525 A C 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1883,C/0.8117;Gene=SLC5A6/NM_021095.2/1;CC=c.579+192T>G;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:6:0:0:8:232:27.01:19.15:7.85:1.00:1.00:1.00:60:35.4:0:0:73:76:17:NM_021095.2(SLC5A6) c.579+192T>G,NM_021095.2(SLC5A6) c.579+192T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 27428815 rs1275526 C G 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1835,G/0.8165;Gene=SLC5A6/NM_021095.2/1;CC=c.579+79G>C;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:19:0:0:21:674:77.34:69.59:7.75:1.00:1.00:1.00:60:69.4:0:0:55:96:30:NM_021095.2(SLC5A6) c.579+79G>C,NM_021095.2(SLC5A6) c.579+79G>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 27428877 rs1275527 C G 152 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.1883,G/0.8117;Gene=SLC5A6/NM_021095.2/1;CC=c.579+17G>C;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:C,G:44:36:0:0:1,43:6,1334:0.00,152.42:0.00,106.13:0.00,46.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,51.4:0,0:0,0:28,46:122,102:0,23:NM_021095.2(SLC5A6) c.579+17G>C,NM_021095.2(SLC5A6) c.579+17G>C:0.85,0.85:0.785791,0.785791 2 27428962 . C . . NT END=27429350;NT GT ./. 2 27429403 . C . . NT END=27429744;NT GT ./. 2 27429808 rs61280535 G A 43 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.9962,A/0.003794;PC=1.000;Gene=SLC5A6/NM_021095.2/1;CC=c.396C>T;ProtCh=p.Y132=;VC=Silent;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;DM=SLC5A6/SSF;DM=SLC5A6/SSF;DM=SLC5A6/SSF;DM=SLC5A6/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:24:0:0:14,20:467,591:43.41,0.00:16.41,0.00:27.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,22.8:0,0:0,0:95,71:51,77:25,25:NM_021095.2(SLC5A6) c.396C>T (p.(=)),-:0.01,-:0.012917,- 2 27429811 . C . . NT END=27430125;NT GT ./. 2 27430519 . A . . NT END=27435071;NT GT ./. 2 27430781 rs1275528 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4529,G/0.5471;Gene=SLC5A6/NM_021095.2/1;CC=c.-140-123T>C;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:60:33.0:0:0:90:58:9:NM_021095.2(SLC5A6) c.-140-123T>C,NM_021095.2(SLC5A6) c.-140-123T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 27434834 . C CCCCGCCCCCTG 7 nt VT=INS;SST=Single;DP=8;NP=23;PC=0.010;Gene=SLC5A6/NM_021095.2/1;CC=c.-208+53_-208+54insCAGGGGGCGGG;VC=Intron;Gene=SLC5A6/NR_028323.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,CCCCGCCCCCTG:8:8:3:0:5,3:173,81:0.00,7.23:0.00,7.23:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:2.0,17.3:0,0:0,0:41,71:110,80:36,2:-,NM_021095.2(SLC5A6) c.-208+53_-208+54insCAGGGGGCGGG:-,NOT_FOUND:-,NOT_FOUND 2 27435250 rs1275533 A G 669 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=180;DB;DBA=NA;PAF=A/0.09565,G/0.9044;Gene=ATRAID/NM_080592.3/0;CC=c.179A>G;ProtCh=p.D60G;VC=Missense;Gene=ATRAID/NM_001170795.1/1;CC=c.14A>G;ProtCh=p.D5G;VC=Missense;Gene=ATRAID/NM_016085.4/0;CC=c.-301A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:180:120:0:0:1,178,1:14,5864,11:0.00,668.64,0.08:0.00,338.92,0.08:0.00,329.72,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.0,43.4,187.0:0,0,0:0,0,0:123,73,130:28,77,16:0,35,0:NM_080592.3(ATRAID) c.179A>G (p.Asp60Gly),NM_080592.3(ATRAID) c.179A>G (p.Asp60Gly):0.93,0.93:0.902473,0.902473 2 27435374 rs11608 G A 228 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.4567,A/0.5433;PC=0.001;Gene=ATRAID/NM_080592.3/0;CC=c.264+39G>A;VC=Intron;Gene=ATRAID/NM_001170795.1/1;CC=c.99+39G>A;VC=Intron;Gene=ATRAID/NM_016085.4/0;CC=c.-177G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:84:0:0:75,76:2374,2461:227.67,0.00:109.42,0.00:118.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,13.8:0,0:0,0:97,88:52,56:24,33:NM_080592.3(ATRAID) c.264+39G>A,-:0.62,-:0.575004,- 2 27435476 . G . . NT END=27436044;NT GT ./. 2 27436167 . G . . NT END=27438188;NT GT ./. 2 27438261 . G . . NT END=27438341;NT GT ./. 2 27438414 . G . . NT END=27438499;NT GT ./. 2 27438622 . G . . NT END=27439390;NT GT ./. 2 27438710 rs11126918 G A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.7342,A/0.2658;Gene=ATRAID/NM_080592.3/0;CC=c.652+89G>A;VC=Intron;Gene=ATRAID/NM_001170795.1/1;CC=c.487+89G>A;VC=Intron;Gene=ATRAID/NM_016085.4/0;CC=c.313+89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:6:0:0:13,19:384,622:35.19,0.00:2.91,0.00:32.28,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:50.3,11.8:0,0:0,0:96,102:55,49:27,22:NM_080592.3(ATRAID) c.652+89G>A,-:0.23,-:NOT_FOUND,- 2 27439489 . G . . NT END=27439711;NT GT ./. 2 27439817 . A . . NT END=27440419;NT GT ./. 2 27440013 rs397984155 CT C 10 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CT/0.4533,C/0.5467;DB;DBA=NA;PAF=CT/0.4533,C/0.5467;NP=223;PC=0.008;Gene=ATRAID/NM_080592.3/0;CC=c.*203delT;VC=3UTR;Gene=ATRAID/NM_001170795.1/1;CC=c.*203delT;VC=3UTR;Gene=ATRAID/NM_016085.4/0;CC=c.*203delT;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:CT,C:7:1:0:4:3,4:92,100:0.00,9.82:0.00,2.03:0.00,7.79:0.00,0.90:0.00,0.71:0.00,0.99:60,60:0.0,71.5:0,0:0,0:147,75:4,75:2,40:-,NM_080592.3(ATRAID) c.*198T[5]:-,0.62:-,NOT_FOUND 2 27440503 . T . . NT END=27440744;NT GT ./. 2 27440785 rs1275536 C T 365 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.004193,C/0.9958;NP=3481;PC=0.004;Gene=CAD/NM_001306079.1/0;CC=c.123C>T;ProtCh=p.T41=;VC=Silent;Gene=CAD/NM_004341.4/1;CC=c.123C>T;ProtCh=p.T41=;VC=Silent;DM=CAD/MGS;DM=CAD/OTCace_N;DM=CAD/CPSase_sm_chain;DM=CAD/CPSase_sm_chain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:97:66:0:0:1,96:5,3199:0.02,365.09:0.02,182.25:0.00,182.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:85.0,45.7:0,0:0,0:104,76:46,60:0,32:NM_004341.3(CAD) c.=,NM_004341.3(CAD) c.=:1,1:0.995771,0.995771 2 27440886 . T . . NT END=27444085;NT GT ./. 2 27444217 . T . . NT END=27445061;NT GT ./. 2 27445206 . T . . NT END=27445386;NT GT ./. 2 27445315 rs397871765 G GT 121 nt VT=INS;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.735,GT/0.265;DB;DBA=NA;PAF=G/0.735,GT/0.265;NP=1362;Gene=CAD/NM_001306079.1/0;CC=c.496-70dupT;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.496-70dupT;VC=Intron;DM=CAD/OTCace;DM=CAD/Amidohydro_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:82:52:40:0:42,40:1390,1267:0.00,121.13:0.00,64.78:0.00,56.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,4.0:1,0:0,0:72,57:78,93:37,34:-,NM_004341.3(CAD) c.496-72_496-71insT:-,0.23:-,NOT_FOUND 2 27445530 . T . . NT END=27445733;NT GT ./. 2 27445907 . T . . NT END=27446430;NT GT ./. 2 27446230 rs9309604 T C 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5465,C/0.4535;Gene=CAD/NM_001306079.1/0;CC=c.810-201T>C;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.810-201T>C;VC=Intron;DM=CAD/OTCace;DM=CAD/GATase;DM=CAD/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C,T:13:9:0:0:1,8,4:12,249,107:0.50,25.34,0.00:0.57,19.24,0.00:-0.07,6.10,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:24.0,58.0,6.5:0,0,0:0,0,0:103,82,101:47,69,48:0,19,46:NM_004341.3(CAD) c.810-201T>C,-:0.38,-:NOT_FOUND,- 2 27446298 rs71834349 CA C 15 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=51;PC=0.047;Gene=CAD/NM_001306079.1/0;CC=c.810-117delA;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.810-117delA;VC=Intron;DM=CAD/OTCace;DM=CAD/GATase;DM=CAD/GATase;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:CA,I,C:17:17:3:7:8,3,6:272,97,200:0.00,8.17,15.39:0.00,8.25,15.56:0.00,-0.08,-0.18:0.00,0.00,0.94:0.00,0.00,1.00:0.00,0.00,0.56:60,60,60:35.4,3.0,72.2:0,0,1:0,0,0:68,39,16:82,111,134:55,34,9:-,NM_004341.3(CAD) c.810-132delA:-,NOT_FOUND:-,NOT_FOUND 2 27446618 . T . . NT END=27446784;NT GT ./. 2 27446899 . T . . NT END=27447212;NT GT ./. 2 27447360 . T . . NT END=27447612;NT GT ./. 2 27447746 . T . . NT END=27447877;NT GT ./. 2 27448113 . T . . NT END=27448572;NT GT ./. 2 27448171 rs182636083 C GT 24 idl,rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.5212,T/0.4788;NP=4;Gene=CAD/NM_001306079.1/0;CC=c.1620+59_1620+60insG;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.1620+59_1620+60insG;VC=Intron;DM=CAD/CPSase_L_D2;DM=CAD/CPSase_L_D2;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GT,D:28:4:12:8:15,10,3:427,328,184:0.00,24.14,6.89:0.00,1.32,-0.08:0.00,22.83,6.98:0.00,1.00,0.00:0.00,0.77,0.00:0.00,1.00,0.00:60,70,60:22.1,53.7,58.0:0,2,3:0,0,0:132,71,72:18,61,77:11,22,13:-,NM_004341.3(CAD) c.1620+60delCinsGT:-,NOT_FOUND:-,NOT_FOUND 2 27448796 . T . . NT END=27448998;NT GT ./. 2 27449188 . G . . NT END=27449392;NT GT ./. 2 27449293 rs7593448 C G 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.5268,G/0.4732;PC=0.041;Gene=CAD/NM_001306079.1/0;CC=c.1843-100C>G;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.2032-100C>G;VC=Intron;DM=CAD/CPSase_L_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:58:30:0:0:32,26:1045,870:0.00,82.08:0.00,38.49:0.00,43.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,38.6:0,0:0,0:81,66:70,84:54,31:-,NM_004341.3(CAD) c.2032-100C>G:-,0.39:-,NOT_FOUND 2 27449519 . T . . NT END=27449699;NT GT ./. 2 27449832 . T . . NT END=27454335;NT GT ./. 2 27454450 . T . . NT END=27454847;NT GT ./. 2 27455094 . T . . NT END=27455315;NT GT ./. 2 27455564 . T . . NT END=27455909;NT GT ./. 2 27456010 . T . . NT END=27456179;NT GT ./. 2 27456406 . T . . NT END=27456493;NT GT ./. 2 27456678 . T . . NT END=27456875;NT GT ./. 2 27457096 . T . . NT END=27457385;NT GT ./. 2 27457555 . T . . NT END=27458112;NT GT ./. 2 27458297 . T . . NT END=27458403;NT GT ./. 2 27458510 . T . . NT END=27459151;NT GT ./. 2 27459393 . T . . NT END=27459616;NT GT ./. 2 27459700 . T . . NT END=27460246;NT GT ./. 2 27460415 . T . . NT END=27460585;NT GT ./. 2 27460752 . T . . NT END=27460923;NT GT ./. 2 27460968 rs1141313 A G 149 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.5453,G/0.4547;Gene=CAD/NM_001306079.1/0;CC=c.4584A>G;ProtCh=p.A1528=;VC=Silent;Gene=CAD/NM_004341.4/1;CC=c.4773A>G;ProtCh=p.A1591=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:112:76:0:0:58,54:1978,1572:0.00,149.20:0.00,62.22:0.00,86.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,39.9:0,0:0,0:67,65:76,76:30,30:-,NM_004341.3(CAD) c.4773A>G (p.(=)):-,0.38:-,0.449869 2 27461057 . T . . NT END=27461298;NT GT ./. 2 27461502 . T . . NT END=27461909;NT GT ./. 2 27462076 rs3739092 C T 227 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=C/0.7344,T/0.2656;Gene=CAD/NM_001306079.1/0;CC=c.5040C>T;ProtCh=p.P1680=;VC=Silent;Gene=CAD/NM_004341.4/1;CC=c.5229C>T;ProtCh=p.P1743=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:155:102:0:0:81,1,73:2483,5,2389:0.00,-0.20,227.48:0.00,-0.09,114.95:0.00,-0.10,112.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.5,142.0,39.4:0,0,0:0,0,0:76,45,93:56,106,54:34,0,29:-,NM_004341.3(CAD) c.5229C>T (p.(=)):-,0.23:-,0.234046 2 27462102 . T . . NT END=27462198;NT GT ./. 2 27462341 . T . . NT END=27462564;NT GT ./. 2 27462405 rs2014252 T A 92 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.5351,A/0.4649;Gene=CAD/NM_001306079.1/0;CC=c.5205+66T>A;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.5394+66T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:71:33:0:0:32,39:982,1184:92.24,0.00:48.85,0.00:43.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,6.6:0,0:0,0:107,111:43,39:19,34:NM_004341.3(CAD) c.5394+66T>A,-:0.38,-:NOT_FOUND,- 2 27462668 . T . . NT END=27463132;NT GT ./. 2 27463091 rs373157465 G GA 18 idl,rn VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=1;NP=11;PC=0.474;Gene=CAD/NM_001306079.1/0;CC=c.5308-29_5308-28insA;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.5497-29_5497-28insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,G,T,GA,D:44:39:8:10:1,28,1,7,7:13,945,9,256,310:0.08,0.00,-0.11,17.87,17.57:0.14,0.00,-0.20,11.32,6.65:-0.06,0.00,0.09,6.56,10.92:0.00,0.00,0.00,0.93,0.00:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,0.91,0.00:60,60,60,60,60:13.0,10.7,91.0,11.7,19.3:0,0,0,1,3:0,0,0,0,0:147,37,56,45,40:-1,106,85,104,107:0,26,0,30,29:-,NM_004341.3(CAD) c.5497-42_5497-41insA:-,NOT_FOUND:-,NOT_FOUND 2 27463231 . T . . NT END=27463434;NT GT ./. 2 27463486 . G . . NT END=27463778;NT GT ./. 2 27463825 . T . . NT END=27463925;NT GT ./. 2 27464097 . T . . NT END=27464189;NT GT ./. 2 27464266 . T . . NT END=27464778;NT GT ./. 2 27464993 . T . . NT END=27465169;NT GT ./. 2 27465297 . T . . NT END=27465487;NT GT ./. 2 27465645 . T . . NT END=27465739;NT GT ./. 2 27465843 . T . . NT END=27466065;NT GT ./. 2 27466162 . T . . NT END=27466283;NT GT ./. 2 27466258 rs5830040 CT C 18 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=CAD/NM_001306079.1/0;CC=c.6387-5delT;VC=Intron;Gene=CAD/NM_004341.4/1;CC=c.6576-5delT;VC=Intron;DM=CAD/OTCace;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:CT,T,I,C:39:31:2:15:30,1,1,7:907,10,57,440:0.00,-0.09,1.73,17.75:0.00,-0.17,1.84,12.58:0.00,0.08,-0.11,5.17:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.96:60,60,60,60:58.6,174.0,157.0,94.0:0,0,1,8:0,0,0,0:68,60,29,20:65,91,122,91:42,0,23,16:-,NM_004341.3(CAD) c.6576-25delT:-,NOT_FOUND:-,NOT_FOUND 2 27466388 . G . . NT END=27477952;NT GT ./. 2 27477627 rs372545922 AACAC A 12 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=11;PC=0.330;Gene=SLC30A3/NM_003459.4/1;CC=c.*549_*552delGTGT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:AACAC,I,A:12:13:2:5:6,2,4:205,67,158:0.00,5.59,12.00:0.00,4.17,12.24:0.00,1.42,-0.24:0.00,0.00,0.79:0.00,0.00,0.79:0.00,0.00,0.77:60,60,60:11.8,6.5,23.0:0,0,1:0,0,0:81,63,39:68,86,111:43,30,15:-,NM_003459.4(SLC30A3) c.*513GT[18]:-,NOT_FOUND:-,NOT_FOUND 2 27478329 . C . . NT END=27479252;NT GT ./. 2 27479389 . C . . NT END=27479654;NT GT ./. 2 27479762 . C . . NT END=27480020;NT GT ./. 2 27480221 . C . . NT END=27480772;NT GT ./. 2 27480927 . C . . NT END=27481027;NT GT ./. 2 27481176 . C . . NT END=27481619;NT GT ./. 2 27481460 rs58965570 C T 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7336,T/0.2664;PC=0.001;Gene=SLC30A3/NM_003459.4/1;CC=c.277+161G>A;VC=Intron;DM=SLC30A3/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:15:0:0:7,13:211,389:0.00,39.46:0.00,27.59:0.00,11.87:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.4,36.2:0,0:0,0:58,34:93,117:16,17:-,NM_003459.4(SLC30A3) c.277+161G>A:-,0.23:-,NOT_FOUND 2 27481803 . C . . NT END=27485678;NT GT ./. 2 27485961 . C . . NT END=27486877;NT GT ./. 2 27486134 rs113407226 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9617,A/0.03834 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:A,G:14:0:0:0:7,7:165,231:15.57,0.00:0.00,0.00:15.57,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.4,14.1:0,0:0,0:60,80:91,70:41,29:NM_003459.4(SLC30A3) c.-186-u174C>T,-:0.05,-:NOT_FOUND,- 2 27486951 . C . . NT END=27498044;NT GT ./. 2 27497815 rs60631624 T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7396,G/0.2604 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,G,T:7:7:0:0:1,3,3:8,77,92:0.30,7.29,0.00:0.30,7.29,0.00:0.00,0.00,0.00:0.00,0.69,0.00:0.00,0.69,0.00:0.00,0.00,0.00:60,60,60:20.0,38.3,0.0:0,0,0:0,0,0:133,46,9:18,105,140:0,9,3:NM_032546.3(TRIM54) c.-303-u7482T>G,-:0.22,-:NOT_FOUND,- 2 27498101 . C . . NT END=27499596;NT GT ./. 2 27499710 . G . . NT END=27500621;NT GT ./. 2 27499791 rs373252438 C CT 11 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.015;Gene=DNAJC5G/NM_001303127.1/1;CC=c.113+103_113+104insT;VC=Intron;Gene=DNAJC5G/NM_001303128.1/0;CC=c.113+103_113+104insT;VC=Intron;Gene=DNAJC5G/NM_173650.2/0;CC=c.113+103_113+104insT;VC=Intron;Gene=DNAJC5G/NR_130126.1/0;VC=NonCoding;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,CT,D:26:2:6:7:17,5,4:461,165,194:0.00,10.56,9.06:0.00,-0.08,1.34:0.00,10.64,7.72:0.00,0.80,0.00:0.00,0.42,0.00:0.00,0.98,0.00:60,60,60:7.6,39.0,43.5:1,1,3:0,0,0:132,121,85:18,30,64:16,1,29:-,NM_173650.1(DNAJC5G) c.113+82_113+83insT:-,NOT_FOUND:-,NOT_FOUND 2 27500381 rs4665961 T C 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5469,C/0.4531;Gene=DNAJC5G/NM_001303127.1/1;CC=c.114-241T>C;VC=Intron;Gene=DNAJC5G/NM_001303128.1/0;CC=c.113+672T>C;VC=Intron;Gene=DNAJC5G/NM_173650.2/0;CC=c.114-241T>C;VC=Intron;Gene=DNAJC5G/NR_130126.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:7:7:0:0:4,3:135,78:13.34,0.00:13.34,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:59.8,30.0:0,0:0,0:45,93:105,58:40,0:NM_173650.1(DNAJC5G) c.114-241T>C,-:0.37,-:NOT_FOUND,- 2 27500884 . G . . NT END=27501055;NT GT ./. 2 27501201 . G . . NT END=27503033;NT GT ./. 2 27503084 . G . . NT END=27505599;NT GT ./. 2 27505768 . G . . NT END=27521434;NT GT ./. 2 27505782 rs62130709 C T 127 nt VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.7398,T/0.2602;Gene=TRIM54/NM_032546.3/1;CC=c.168+15C>T;VC=Intron;Gene=TRIM54/NM_187841.2/0;CC=c.168+15C>T;VC=Intron;DM=TRIM54/zf-RING_UBOX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:37:0:0:46,42:1367,1332:0.00,126.81:0.00,38.63:0.00,88.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,36.3:0,0:0,0:102,93:48,55:25,35:-,NM_032546.3(TRIM54) c.168+15C>T:-,0.23:-,0.217284 2 27521608 . G . . NT END=27522112;NT GT ./. 2 27522285 . G . . NT END=27522397;NT GT ./. 2 27522400 . a . . NT END=27527826;NT GT ./. 2 27527923 . G . . NT END=27528451;NT GT ./. 2 27528686 . G . . NT END=27528947;NT GT ./. 2 27528692 rs4665963 T C 103 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.5375,C/0.4625;PC=0.002;Gene=TRIM54/NM_032546.3/1;CC=c.969+7T>C;VC=Intron;Gene=TRIM54/NM_187841.2/0;CC=c.843+7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:17:0:0:35,30:1058,999:102.96,0.00:20.30,0.00:82.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.6,18.5:0,0:0,0:116,104:28,44:17,17:NM_032546.3(TRIM54) c.969+7T>C,-:0.38,-:0.435933,- 2 27528971 . G . . NT END=27529080;NT GT ./. 2 27529206 . G . . NT END=27529323;NT GT ./. 2 27529410 . G . . NT END=27530388;NT GT ./. 2 27530764 . G . . NT END=27532779;NT GT ./. 2 27532850 . C . . NT END=27534766;NT GT ./. 2 27532870 rs62130714 A G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.7292,G/0.2708;Gene=MPV17/NM_002437.4/1;CC=c.462-21T>C;VC=Intron;DM=MPV17/Mpv17_PMP22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,G:24:19:0:0:18,6:584,207:0.00,17.71:0.00,5.14:0.00,12.57:0.00,0.92:0.00,0.99:0.00,0.98:60,60:5.4,34.5:0,0:0,0:92,87:53,63:21,22:-,NM_002437.4(MPV17) c.462-21T>C:-,0.23:-,0.226357 2 27534820 . C . . NT END=27535081;NT GT ./. 2 27535115 . C . . NT END=27535360;NT GT ./. 2 27535311 rs5830041 T TG 132 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3443;Gene=MPV17/NM_002437.4/1;CC=c.375+49dupC;VC=Intron;DM=MPV17/Mpv17_PMP22;DM=MPV17/Mpv17_PMP22;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T,TG:41:32:38:0:3,38:101,1181:0.00,131.55:0.00,85.96:0.00,45.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:50.3,6.6:2,0:0,0:86,67:51,84:33,43:NM_002437.4(MPV17) c.375+49_375+50insC,NM_002437.4(MPV17) c.375+49_375+50insC:1,1:0.99976,0.99976 2 27535457 . C . . NT END=27535546;NT GT ./. 2 27535640 . C . . NT END=27535860;NT GT ./. 2 27535977 . C . . NT END=27538758;NT GT ./. 2 27539054 . C . . NT END=27539944;NT GT ./. 2 27540102 . C . . NT END=27545314;NT GT ./. 2 27545385 . G . . NT END=27549541;NT GT ./. 2 27549761 . C . . NT END=27550043;NT GT ./. 2 27549833 rs397868275 CA C 40 idl,rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=326;Gene=GTF3C2/NM_001035521.2/0;CC=c.2518-74delT;VC=Intron;Gene=GTF3C2/NM_001521.3/1;CC=c.2518-74delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:28:9:1:15:4,10,1,13:39,294,30,440:1.92,0.00,1.86,39.80:-0.23,0.00,1.96,12.61:2.15,0.00,-0.10,27.19:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:50.0,6.3,0.0,8.6:0,0,0,1:0,0,0,0:34,78,38,85:117,73,112,65:33,11,0,41:-,NM_001521.2(GTF3C2) c.2518-74delT:-,NOT_FOUND:-,NOT_FOUND 2 27550152 . C . . NT END=27550903;NT GT ./. 2 27550967 rs1049817 A G 88 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.5497,G/0.4503;PC=0.306;Gene=GTF3C2/NM_001035521.2/0;CC=c.2346T>C;ProtCh=p.P782=;VC=Silent;Gene=GTF3C2/NM_001521.3/1;CC=c.2346T>C;ProtCh=p.P782=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:45:0:0:35,29:1180,931:0.00,87.79:0.00,41.12:0.00,46.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,41.2:0,0:0,0:87,93:60,58:23,39:-,NM_001521.2(GTF3C2) c.2346T>C (p.(=)):-,0.41:-,0.486083 2 27551057 . C . . NT END=27551334;NT GT ./. 2 27551464 . C . . NT END=27551710;NT GT ./. 2 27551799 . C . . NT END=27551987;NT GT ./. 2 27552150 . C . . NT END=27552245;NT GT ./. 2 27552391 . C . . NT END=27556521;NT GT ./. 2 27556652 . C . . NT END=27556840;NT GT ./. 2 27556721 rs3739095 G A 103 nt VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.4858,A/0.5142;Gene=GTF3C2/NM_001035521.2/0;CC=c.1603-70C>T;VC=Intron;Gene=GTF3C2/NM_001521.3/1;CC=c.1603-70C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:30:0:0:33,27:1051,908:102.88,0.00:33.95,0.00:68.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,4.1:0,0:0,0:101,99:50,42:27,25:NM_001521.2(GTF3C2) c.1603-70C>T,-:0.45,-:NOT_FOUND,- 2 27556867 . C . . NT END=27558464;NT GT ./. 2 27558252 rs11684134 A G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5881,G/0.4119;Gene=GTF3C2/NM_001035521.2/0;CC=c.1576+213T>C;VC=Intron;Gene=GTF3C2/NM_001521.3/1;CC=c.1576+213T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:8:8:0:0:3,5:70,146:0.00,14.71:0.00,14.71:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:75.7,57.6:0,0:0,0:42,23:109,128:12,8:-,NM_001521.2(GTF3C2) c.1576+213T>C:-,0.37:-,NOT_FOUND 2 27558574 . C . . NT END=27558783;NT GT ./. 2 27558896 . C . . NT END=27559064;NT GT ./. 2 27559293 . C . . NT END=27560110;NT GT ./. 2 27560210 . C . . NT END=27560347;NT GT ./. 2 27560426 . C . . NT END=27560792;NT GT ./. 2 27560577 . G A 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;PC=0.009;Gene=GTF3C2/NM_001035521.2/0;CC=c.951-152C>T;VC=Intron;Gene=GTF3C2/NM_001521.3/1;CC=c.951-152C>T;VC=Intron;Gene=GTF3C2-AS1/NR_038427.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,G:10:4:0:0:5,5:164,148:15.78,0.00:6.25,0.00:9.53,0.00:0.95,0.00:0.51,0.00:0.73,0.00:60,60:40.6,17.0:0,0:0,0:117,85:34,66:31,45:NR_038427.1(LOC100505624) n.748G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 27560888 . C . . NT END=27564814;NT GT ./. 2 27565101 . C . . NT END=27565692;NT GT ./. 2 27566015 . C . . NT END=27566174;NT GT ./. 2 27566446 . C . . NT END=27573180;NT GT ./. 2 27573406 . c . . NT END=27578953;NT GT ./. 2 27573503 rs397815295 C CA 47 rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.642,CA/0.358;DB;DBA=NA;PAF=C/0.642,CA/0.358;NP=443;PC=0.005;Gene=GTF3C2/NM_001035521.2/0;CC=c.-25+6102_-25+6103insT;VC=Intron;Gene=GTF3C2/NM_001521.3/1;CC=c.-100-248_-100-247insT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:45:0:16:0:1,28,16:11,861,521:-0.03,0.00,47.22:0.00,0.00,0.00:-0.03,0.00,47.22:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:35.0,10.5,3.1:0,0,0:0,0,0:87,112,101:61,38,49:0,34,24:-,NM_001521.2(GTF3C2) c.-100-248_-100-247insT:-,0.32:-,NOT_FOUND 2 27578963 . C . . NT END=27587266;NT GT ./. 2 27587467 . C . . NT END=27587584;NT GT ./. 2 27587766 . C . . NT END=27589625;NT GT ./. 2 27587922 rs543125992 CT C 17 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.829;Gene=EIF2B4/NM_172195.3/0;CC=c.1252-158delA;VC=Intron;Gene=EIF2B4/NM_001034116.1/1;CC=c.1192-158delA;VC=Intron;Gene=EIF2B4/NM_015636.3/0;CC=c.1189-158delA;VC=Intron;DM=EIF2B4/IF-2B;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CT,I,C:16:0:4:7:6,4,6:179,119,183:0.00,10.66,17.39:0.00,0.00,0.00:0.00,10.66,17.39:0.00,0.00,0.95:0.00,0.00,0.00:0.00,0.00,0.95:60,60,60:24.2,14.5,4.3:0,0,0:0,0,0:130,126,86:20,24,64:9,5,30:-,NM_001034116.1(EIF2B4) c.1192-158delA:-,NOT_FOUND:-,NOT_FOUND 2 27589804 . C . . NT END=27589940;NT GT ./. 2 27589810 rs2280737 T C 121 nt VT=SNV;PN=G;NN=G;SST=Single;DP=89;DB;DBA=in-clinvar;PAF=T/0.6166,C/0.3834;PC=0.068;Gene=EIF2B4/NM_172195.3/0;CC=c.1074-7A>G;VC=Intron;Gene=EIF2B4/NM_001034116.1/1;CC=c.1014-7A>G;VC=Intron;Gene=EIF2B4/NM_015636.3/0;CC=c.1011-7A>G;VC=Intron;DM=EIF2B4/IF-2B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:89:48:0:0:40,49:1282,1473:120.71,0.00:51.90,0.00:68.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,6.3:0,0:0,0:92,100:57,46:24,32:NM_001034116.1(EIF2B4) c.1014-7A>G,-:0.34,-:0.415885,- 2 27590069 . C . . NT END=27590323;NT GT ./. 2 27590427 . C . . NT END=27590612;NT GT ./. 2 27590690 . C . . NT END=27590891;NT GT ./. 2 27591007 . C . . NT END=27591238;NT GT ./. 2 27591331 . C . . NT END=27591520;NT GT ./. 2 27591601 . C . . NT END=27591872;NT GT ./. 2 27592080 . C . . NT END=27592280;NT GT ./. 2 27592090 . T TA 17 idl,rn VT=INS;SST=Single;DP=112;NP=3;PC=0.001;Gene=EIF2B4/NM_172195.3/0;CC=c.275-15dupT;VC=Intron;Gene=EIF2B4/NM_001034116.1/1;CC=c.212-12dupT;VC=Intron;Gene=EIF2B4/NM_015636.3/0;CC=c.212-15dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:T,TA,D:110:65:9:8:95,9,6:2738,264,247:0.00,17.42,12.58:0.00,5.90,0.21:0.00,11.52,12.37:0.00,0.95,0.00:0.00,0.97,0.00:0.00,0.99,0.00:60,60,60:29.3,38.8,9.8:0,0,2:0,0,0:91,88,105:59,62,45:36,19,9:-,NM_001034116.1(EIF2B4) c.212-12_212-11insT:-,NOT_FOUND:-,NOT_FOUND 2 27592417 . C . . NT END=27592742;NT GT ./. 2 27592423 rs7602534 C T 117 nt VT=SNV;PN=A;NN=A;SST=Single;DP=89;DB;DBA=in-clinvar;PAF=C/0.6216,T/0.3784;PC=0.994;Gene=EIF2B4/NM_172195.3/0;CC=c.139-7G>A;VC=Intron;Gene=EIF2B4/NM_001034116.1/1;CC=c.76-7G>A;VC=Intron;Gene=EIF2B4/NM_015636.3/0;CC=c.76-7G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:34:0:0:49,40:1566,1246:0.00,117.03:0.00,29.40:0.00,87.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,44.0:0,0:0,0:86,78:63,69:43,34:-,NM_001034116.1(EIF2B4) c.76-7G>A:-,0.34:-,0.415808 2 27592920 . T . . NT END=27592972;NT GT ./. 2 27593182 . C . . NT END=27593505;NT GT ./. 2 27593674 . G . . NT END=27594135;NT GT ./. 2 27594336 . G . . NT END=27595465;NT GT ./. 2 27595608 . G . . NT END=27595906;NT GT ./. 2 27595756 rs1528533 G C 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.5553,C/0.4447;Gene=SNX17/NM_001267059.1/0;CC=c.220+149G>C;VC=Intron;Gene=SNX17/NM_001267060.1/0;CC=c.181+149G>C;VC=Intron;Gene=SNX17/NM_001267061.1/0;CC=c.196+149G>C;VC=Intron;Gene=SNX17/NM_014748.3/1;CC=c.256+149G>C;VC=Intron;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:42:11:0:0:18,24:604,796:56.53,0.00:20.14,0.00:36.39,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:43.3,13.5:0,0:0,0:115,69:35,81:34,32:NM_014748.3(SNX17) c.256+149G>C,-:0.39,-:NOT_FOUND,- 2 27595981 . G . . NT END=27596113;NT GT ./. 2 27596179 . G . . NT END=27596727;NT GT ./. 2 27596395 rs6547589 C A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5389,A/0.4611;Gene=SNX17/NM_001267059.1/0;CC=c.285+217C>A;VC=Intron;Gene=SNX17/NM_001267060.1/0;CC=c.246+217C>A;VC=Intron;Gene=SNX17/NM_001267061.1/0;CC=c.261+217C>A;VC=Intron;Gene=SNX17/NM_014748.3/1;CC=c.321+217C>A;VC=Intron;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,C:11:1:0:0:8,3:231,71:24.08,0.00:1.07,0.00:23.01,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:31.2,44.3:0,0:0,0:88,68:61,82:36,19:NM_014748.3(SNX17) c.321+217C>A,-:0.41,-:NOT_FOUND,- 2 27596839 . G . . NT END=27596951;NT GT ./. 2 27597043 . G . . NT END=27597212;NT GT ./. 2 27597190 rs34784726 AT A 25 idl,rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=193;PC=0.004;Gene=SNX17/NM_001267059.1/0;CC=c.488-10delT;VC=Intron;Gene=SNX17/NM_001267060.1/0;CC=c.449-10delT;VC=Intron;Gene=SNX17/NM_001267061.1/0;CC=c.464-10delT;VC=Intron;Gene=SNX17/NM_014748.3/1;CC=c.524-10delT;VC=Intron;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,I,A:61:34:5:13:45,2,4,10:1280,44,158,417:0.00,1.93,8.54,25.11:0.00,-0.25,4.43,17.34:0.00,2.18,4.11,7.77:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:14.4,49.0,67.0,5.8:0,1,1,3:0,0,0,0:55,71,103,38:86,78,48,110:37,51,27,15:-,NM_014748.3(SNX17) c.524-22delT:-,NOT_FOUND:-,NOT_FOUND 2 27597301 . G . . NT END=27597555;NT GT ./. 2 27597626 . G . . NT END=27597927;NT GT ./. 2 27597805 rs3215365 CTT C 43 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=CTT/0.5555,C/0.4445;NP=1357;Gene=SNX17/NM_001267059.1/0;CC=c.646-122_646-121delTT;VC=Intron;Gene=SNX17/NM_001267060.1/0;CC=c.607-122_607-121delTT;VC=Intron;Gene=SNX17/NM_001267061.1/0;CC=c.622-122_622-121delTT;VC=Intron;Gene=SNX17/NM_014748.3/1;CC=c.682-122_682-121delTT;VC=Intron;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:38:28:0:15:23,15:772,471:0.00,43.18:0.00,30.99:0.00,12.19:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.3,7.9:0,0:0,0:37,50:114,101:22,31:-,NM_014748.3(SNX17) c.682-122_682-121delTT:-,0.4:-,NOT_FOUND 2 27598021 . G . . NT END=27598372;NT GT ./. 2 27598097 rs4665972 T C 63 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.2815,C/0.7185;Gene=SNX17/NM_001267059.1/0;CC=c.738+77T>C;VC=Intron;Gene=SNX17/NM_001267060.1/0;CC=c.699+77T>C;VC=Intron;Gene=SNX17/NM_001267061.1/0;CC=c.714+77T>C;VC=Intron;Gene=SNX17/NM_014748.3/1;CC=c.774+77T>C;VC=Intron;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:10:0:0:20,17:642,530:62.67,0.00:17.09,0.00:45.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.5,3.2:0,0:0,0:87,113:56,38:35,31:NM_014748.3(SNX17) c.774+77T>C,-:0.62,-:NOT_FOUND,- 2 27598155 rs4665973 G A 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.8327,A/0.1673;PC=0.004;Gene=SNX17/NM_001267059.1/0;CC=c.738+135G>A;VC=Intron;Gene=SNX17/NM_001267060.1/0;CC=c.699+135G>A;VC=Intron;Gene=SNX17/NM_001267061.1/0;CC=c.714+135G>A;VC=Intron;Gene=SNX17/NM_014748.3/1;CC=c.774+135G>A;VC=Intron;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:30:13:0:0:16,1,13:476,10,432:46.55,0.08,0.00:23.17,-0.07,0.00:23.38,0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.4,79.0,4.3:0,0,0:0,0,0:81,143,76:66,-11,73:57,0,38:NM_014748.3(SNX17) c.774+135G>A,-:0.14,-:NOT_FOUND,- 2 27598577 . G . . NT END=27598712;NT GT ./. 2 27598839 . G . . NT END=27598972;NT GT ./. 2 27599051 . G . . NT END=27599179;NT GT ./. 2 27599132 rs12475426 G A 146 nt VT=SNV;PN=G;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.5363,A/0.4637;Gene=SNX17/NM_001267059.1/0;CC=c.1147-48G>A;VC=Intron;Gene=SNX17/NM_001267060.1/0;CC=c.1108-48G>A;VC=Intron;Gene=SNX17/NM_001267061.1/0;CC=c.1123-48G>A;VC=Intron;Gene=SNX17/NM_014748.3/1;CC=c.1183-48G>A;VC=Intron;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:65:0:0:47,39:1492,1238:145.81,0.00:87.66,0.00:58.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,13.6:0,0:0,0:50,72:95,78:26,47:NM_014748.3(SNX17) c.1183-48G>A,-:0.41,-:0.49062,- 2 27599255 . G . . NT END=27599345;NT GT ./. 2 27599388 . G . . NT END=27599472;NT GT ./. 2 27599587 . T . . NT END=27600411;NT GT ./. 2 27600239 rs13472 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.648,A/0.352;PC=0.105;Gene=SNX17/NM_001267059.1/0;CC=c.*653G>A;VC=3UTR;Gene=SNX17/NM_001267060.1/0;CC=c.*653G>A;VC=3UTR;Gene=SNX17/NM_001267061.1/0;CC=c.*653G>A;VC=3UTR;Gene=SNX17/NM_014748.3/1;CC=c.*653G>A;VC=3UTR;Gene=SNX17/NR_049782.1/0;VC=NonCoding;Gene=SNX17/NR_049783.1/0;VC=NonCoding;Gene=SNX17/NR_049784.1/0;VC=NonCoding;Gene=SNX17/NR_049785.1/0;VC=NonCoding;Gene=SNX17/NR_049786.1/0;VC=NonCoding;Gene=SNX17/NR_049787.1/0;VC=NonCoding;Gene=SNX17/NR_049788.1/0;VC=NonCoding;Gene=ZNF513/NM_001201459.1/0;CC=c.*173C>T;VC=3UTR;Gene=ZNF513/NM_144631.5/1;CC=c.*173C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:13:13:0:0:5,8:132,197:11.82,0.00:11.82,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:64.8,15.9:0,0:0,0:22,16:107,134:18,15:NM_014748.3(SNX17) c.*653G>A,-:0.31,-:NOT_FOUND,- 2 27600814 rs61995753 G A 314 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=228;DB;DBA=NA;PAF=G/0.9954,A/0.004593,T/.;Gene=ZNF513/NM_001201459.1/0;CC=c.1038C>T;ProtCh=p.R346=;VC=Silent;Gene=ZNF513/NM_144631.5/1;CC=c.1224C>T;ProtCh=p.R408=;VC=Silent;DM=ZNF513/zf-H2C2_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:228:163:0:0:105,1,122:3315,12,3762:313.51,-0.14,0.00:165.90,-0.05,0.00:147.61,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,18,60:40.4,197.0,9.6:0,0,0:0,0,0:79,43,62:72,83,80:36,0,40:NM_144631.5(ZNF513) c.1224C>T (p.(=)),-:0.01,-:0.012917,- 2 27601239 . C . . NT END=27601333;NT GT ./. 2 27601922 . C . . NT END=27602959;NT GT ./. 2 27603312 . C . . NT END=27603338;NT GT ./. 2 27603516 . g . . NT END=27604465;NT GT ./. 2 27603673 rs56120917 G A 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.759,A/0.241;PC=0.045 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:0:0:0:14,15:393,481:37.19,0.00:0.00,0.00:37.19,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.8,33.0:0,0:0,0:86,112:64,39:40,27:NM_144631.5(ZNF513) c.-218-u62C>T,-:0.2,-:NOT_FOUND,- 2 27604279 rs4582 A G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5381,G/0.4619;PC=0.882;Gene=PPM1G/NM_177983.2/1;CC=c.*187T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:8:8:0:0:4,4:128,132:0.00,12.70:0.00,12.70:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:20.8,33.0:0,0:0,0:78,43:73,106:4,25:-,NM_177983.2(PPM1G) c.*187T>C:-,0.41:-,NOT_FOUND 2 27604673 . C . . NT END=27604992;NT GT ./. 2 27605096 . C . . NT END=27605342;NT GT ./. 2 27605473 . C . . NT END=27606232;NT GT ./. 2 27605696 rs397750477 G GT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5591,GT/0.4409;DB;DBA=NA;PAF=G/0.5591,GT/0.4409;NP=28;PC=0.047;Gene=PPM1G/NM_177983.2/1;CC=c.1202-225_1202-224insA;VC=Intron;DM=PPM1G/PP2C;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GT:5:0:3:0:2,3:67,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,23.7:0,0:0,0:113,55:36,96:30,44:-,NM_177983.2(PPM1G) c.1202-225_1202-224insA:-,NOT_FOUND:-,NOT_FOUND 2 27605762 rs34341829 G A 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.646,A/0.354;PC=0.038;Gene=PPM1G/NM_177983.2/1;CC=c.1202-290C>T;VC=Intron;DM=PPM1G/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:A,G:5:1:0:0:2,3:71,52:6.61,0.00:-0.21,0.00:6.82,0.00:0.46,0.00:0.60,0.00:0.87,0.00:60,60:35.5,10.0:0,0:0,0:100,57:51,93:22,24:NM_177983.2(PPM1G) c.1202-290C>T,-:0.31,-:NOT_FOUND,- 2 27606098 rs2384629 A G 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.007788,G/0.9922;Gene=PPM1G/NM_177983.2/1;CC=c.1201+135T>C;VC=Intron;DM=PPM1G/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:316:36.37:36.37:0.00:1.00:1.00:0.00:60:36.1:0:0:20:130:7:NM_177983.2(PPM1G) c.1201+135T>C,NM_177983.2(PPM1G) c.1201+135T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 27606468 . C . . NT END=27606818;NT GT ./. 2 27606960 . C . . NT END=27607539;NT GT ./. 2 27607956 . C . . NT END=27608613;NT GT ./. 2 27608115 rs1647284 C T 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.5385,T/0.4615;Gene=PPM1G/NM_177983.2/1;CC=c.410-160G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:0:0:0:17,14:503,383:0.00,35.69:0.00,0.00:0.00,35.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.9,32.9:0,0:0,0:123,104:28,46:16,39:-,NM_177983.2(PPM1G) c.410-160G>A:-,0.41:-,NOT_FOUND 2 27608747 . C . . NT END=27609060;NT GT ./. 2 27609147 . C . . NT END=27609955;NT GT ./. 2 27610026 . C . . NT END=27632169;NT GT ./. 2 27632290 . G . . NT END=27656140;NT GT ./. 2 27656036 rs809673 A G 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.5461,G/0.4539;Gene=NRBP1/NM_013392.2/1;CC=c.-20-85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:30:0:0:14,17:455,455:0.00,44.11:0.00,44.63:0.00,-0.52:0.00,1.00:0.00,1.00:0.00,0.83:60,60:9.1,34.0:0,0:0,0:42,47:108,102:32,18:-,NM_013392.2(NRBP1) c.-20-85A>G:-,0.4:-,NOT_FOUND 2 27656351 . G . . NT END=27656539;NT GT ./. 2 27656663 . G . . NT END=27656855;NT GT ./. 2 27656822 rs397824808 G GA 55 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.4778,GA/0.5222;DB;DBA=NA;PAF=NA;NP=2279;PC=0.259;Gene=NRBP1/NM_013392.2/1;CC=c.334-33dupA;VC=Intron;DM=NRBP1/Pkinase_Tyr;DM=NRBP1/Pkinase_Tyr;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:46:24:19:0:27,19:905,594:0.00,54.92:0.00,14.85:0.00,40.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,5.4:0,0:0,0:79,60:72,91:44,31:-,NM_013392.2(NRBP1) c.334-34_334-33insA:-,NOT_FOUND:-,0.564617 2 27656958 . G . . NT END=27657337;NT GT ./. 2 27657167 rs704791 T C 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5459,C/0.4541;Gene=NRBP1/NM_013392.2/1;CC=c.436-171T>C;VC=Intron;DM=NRBP1/Pkinase_Tyr;DM=NRBP1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:19:11:0:0:12,7:343,194:34.55,0.00:12.55,0.00:22.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.0,20.7:0,0:0,0:77,59:69,91:39,33:NM_013392.2(NRBP1) c.436-171T>C,-:0.4,-:NOT_FOUND,- 2 27657428 . G . . NT END=27657588;NT GT ./. 2 27657630 . G . . NT END=27657999;NT GT ./. 2 27657681 rs77005271 C T 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.8594,T/0.1406;PC=0.723;Gene=NRBP1/NM_013392.2/1;CC=c.566+52C>T;VC=Intron;DM=NRBP1/Pkinase_Tyr;DM=NRBP1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:15:0:0:20,18:612,566:0.00,53.77:0.00,20.66:0.00,33.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,38.6:0,0:0,0:91,110:54,32:32,25:-,NM_013392.2(NRBP1) c.566+52C>T:-,0.12:-,0.07247 2 27658095 . G . . NT END=27659619;NT GT ./. 2 27659491 rs780102 T C 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5449,C/0.4551;Gene=NRBP1/NM_013392.2/1;CC=c.662-129T>C;VC=Intron;DM=NRBP1/Pkinase_Tyr;DM=NRBP1/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:C,T:10:10:0:0:6,4:203,76:20.28,0.00:20.28,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:41.7,6.8:0,0:0,0:28,29:122,121:10,17:NM_013392.2(NRBP1) c.662-129T>C,-:0.4,-:NOT_FOUND,- 2 27659704 . G . . NT END=27659913;NT GT ./. 2 27659832 rs561426797 CT C 10 idl,rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=9;PC=0.003;Gene=NRBP1/NM_013392.2/1;CC=c.746-70delT;VC=Intron;DM=NRBP1/Pkinase_Tyr;DM=NRBP1/Pkinase_Tyr;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:CT,I,C:33:22:4:4:26,3,4:812,132,133:0.00,7.13,10.08:0.00,7.57,7.73:0.00,-0.44,2.35:0.00,0.00,0.62:0.00,0.00,0.86:0.00,0.00,0.74:60,60,60:28.0,32.3,5.5:0,1,0:0,0,0:28,29,43:122,121,107:26,21,23:-,NM_013392.2(NRBP1) c.746-81delT:-,NOT_FOUND:-,NOT_FOUND 2 27659973 . g . . NT END=27660128;NT GT ./. 2 27660101 . CT C 11 idl,rn VT=DEL;SST=Single;DP=53;NP=41;PC=0.012;Gene=NRBP1/NM_013392.2/1;CC=c.805-18delT;VC=Intron;DM=NRBP1/Pkinase_Tyr;DM=NRBP1/Pkinase_Tyr;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,CT,I,C:53:34:4:5:1,43,4,5:8,1398,121,157:-0.25,0.00,8.06,11.12:-0.18,0.00,4.21,7.84:-0.07,0.00,3.85,3.28:0.00,0.00,0.00,0.71:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.88:60,60,60,60:86.0,22.5,0.0,20.4:0,0,0,0:0,0,0,0:62,79,37,57:71,72,113,94:0,39,15,39:-,NM_013392.2(NRBP1) c.805-27delT:-,NOT_FOUND:-,0.025559 2 27660228 . G . . NT END=27662632;NT GT ./. 2 27662766 . G . . NT END=27663269;NT GT ./. 2 27662862 rs200010147 CTTTTTTTTTTTTTTTTTTTTT C 16 idl,nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=18;PC=0.025;Gene=NRBP1/NM_013392.2/1;CC=c.1036+113_1036+133delTTTTTTTTTTTTTTTTTTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:CTTTTTTTTTTTTTTTTTTTTT,T,I,C:26:5:1:14:16,3,1,6:484,76,22,411:0.00,5.34,0.97,16.43:0.00,-0.17,-0.05,-0.35:0.00,5.50,1.02,16.78:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.99:60,60,60,70:0.0,47.0,99.0,35.8:0,2,0,7:0,0,0,0:134,96,100,85:14,54,27,63:11,2,0,21:-,NM_013392.2(NRBP1) c.1036+98_1036+118delTTTTTTTTTTTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 2 27663215 rs1260341 T A 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5459,A/0.4541;Gene=NRBP1/NM_013392.2/1;CC=c.1037-55T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:23:0:0:13,14:404,444:38.48,0.00:33.99,0.00:4.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,17.6:0,0:0,0:55,42:96,108:37,26:NM_013392.2(NRBP1) c.1037-55T>A,-:0.4,-:NOT_FOUND,- 2 27663376 . G . . NT END=27663518;NT GT ./. 2 27663416 rs1260342 G T 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5461,T/0.4539;Gene=NRBP1/NM_013392.2/1;CC=c.1142+41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:44:23:0:0:1,24,19:10,751,578:-0.04,0.00,54.04:-0.12,0.00,16.73:0.08,0.00,37.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:55.0,12.0,46.5:0,0,0:0,0,0:70,91,114:81,53,35:0,33,24:-,NM_013392.2(NRBP1) c.1142+41G>T:-,0.4:-,0.479087 2 27663570 . G . . NT END=27663671;NT GT ./. 2 27663808 . G . . NT END=27663993;NT GT ./. 2 27664048 . G . . NT END=27664133;NT GT ./. 2 27664198 . G . . NT END=27664433;NT GT ./. 2 27664490 . G . . NT END=27664574;NT GT ./. 2 27664680 . A . . NT END=27665279;NT GT ./. 2 27665308 . G . . NT END=27665445;NT GT ./. 2 27665361 rs780112 C G 141 nt VT=SNV;PN=C;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.5457,G/0.4543,T/.;Gene=KRTCAP3/NM_173853.3/0;CC=c.28+54C>G;VC=Intron;Gene=KRTCAP3/NM_001168364.1/1;CC=c.28+54C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:112:76:0:0:62,50:1894,1510:0.00,141.37:0.00,72.62:0.00,68.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,43.8:0,0:0,0:91,61:49,89:39,35:-,NM_001168364.1(KRTCAP3) c.28+54C>G:-,0.4:-,0.469558 2 27665631 . G . . NT END=27665708;NT GT ./. 2 27665769 . G . . NT END=27665940;NT GT ./. 2 27666148 . G . . NT END=27666264;NT GT ./. 2 27666400 . G . . NT END=27666815;NT GT ./. 2 27666924 . G . . NT END=27667298;NT GT ./. 2 27667297 rs4803 A G 93 nt VT=SNV;PN=C;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5459,G/0.4541;PC=0.004;Gene=KRTCAP3/NM_001168364.1/1;CC=c.*5+369A>G;VC=Intron;Gene=IFT172/NM_015662.2/1;CC=c.*2T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:49:0:0:24,31:803,951:0.00,93.40:0.00,63.04:0.00,30.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,37.1:0,0:0,0:41,19:98,125:23,13:-,NM_015662.1(IFT172) c.*2T>C:-,0.4:-,0.479087 2 27667389 . C . . NT END=27667880;NT GT ./. 2 27667520 rs56750963 T TTTTG 15 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4633,TTTTG/0.5367;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4633,TTTTG/0.5367;NP=194;PC=0.005;Gene=KRTCAP3/NM_001168364.1/1;CC=c.*5+603_*5+604insGTTT;VC=Intron;Gene=IFT172/NM_015662.2/1;CC=c.5161-133_5161-132insCAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:T,TTTTG:10:2:5:0:5,5:138,158:0.00,15.19:0.00,-0.58:0.00,15.78:0.00,0.95:0.00,0.79:0.00,0.87:60,60:26.0,7.4:0,0:0,0:70,95:74,56:17,17:-,NM_015662.1(IFT172) c.5161-133_5161-132insCAAA:-,NOT_FOUND:-,NOT_FOUND 2 27667818 rs111756175 G GT 7 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9605,GT/0.03954;NP=51;PC=0.039;Gene=KRTCAP3/NM_001168364.1/1;CC=c.*5+899dupT;VC=Intron;Gene=IFT172/NM_015662.2/1;CC=c.5160+62dupA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:G,GT:28:28:3:0:25,3:781,96:0.00,6.90:0.00,5.74:0.00,1.16:0.00,0.44:0.00,0.44:0.00,0.42:60,60:26.6,0.0:0,0:0,0:68,38:83,113:40,2:-,NM_015662.1(IFT172) c.5160+62_5160+63insA:-,0.05:-,NOT_FOUND 2 27667973 . C . . NT END=27668162;NT GT ./. 2 27668317 . C . . NT END=27668611;NT GT ./. 2 27668711 . C . . NT END=27668795;NT GT ./. 2 27668856 . C . . NT END=27669126;NT GT ./. 2 27669223 . C . . NT END=27670381;NT GT ./. 2 27669341 rs11333597 AT A 25 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=AT/0.5455,A/0.4545;NP=779;PC=0.018;Gene=KRTCAP3/NM_001168364.1/1;CC=c.*181delT;VC=3UTR;Gene=IFT172/NM_015662.2/1;CC=c.4660-120delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:20:0:0:9:11,9:359,270:0.00,25.31:0.00,0.00:0.00,25.31:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.8,11.7:0,0:0,0:96,121:54,29:9,21:-,NM_001168364.1(KRTCAP3) c.*180T[1]:-,NOT_FOUND:-,NOT_FOUND 2 27669365 rs184340017 G GT 11 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5509,GT/0.4491;DB;DBA=NA;PAF=NA;NP=183;Gene=IFT172/NM_015662.2/1;CC=c.4660-144_4660-143insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:G,GT:17:0:4:0:13,4:414,127:0.00,10.59:0.00,0.00:0.00,10.59:0.00,0.74:0.00,0.00:0.00,0.74:60,60:12.2,0.0:0,0:0,0:118,90:33,60:26,28:-,NM_015662.1(IFT172) c.4660-144_4660-143insA:-,0.38:-,NOT_FOUND 2 27670307 rs11126999 G A 117 nt VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.6466,A/0.3534;Gene=IFT172/NM_015662.2/1;CC=c.4659+75C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:66:0:0:37,36:1216,1107:117.33,0.00:92.00,0.00:25.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,11.5:0,0:0,0:45,28:106,120:38,14:NM_015662.1(IFT172) c.4659+75C>T,-:0.31,-:NOT_FOUND,- 2 27670502 . C . . NT END=27670678;NT GT ./. 2 27670790 . C . . NT END=27671781;NT GT ./. 2 27671899 . C . . NT END=27672160;NT GT ./. 2 27672248 . C . . NT END=27672365;NT GT ./. 2 27672430 . C . . NT END=27672557;NT GT ./. 2 27672668 . C . . NT END=27672864;NT GT ./. 2 27672964 . C . . NT END=27676250;NT GT ./. 2 27676287 rs56076827 A T 111 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=A/0.6464,T/0.3536;PC=0.037;Gene=IFT172/NM_015662.2/1;CC=c.3915T>A;ProtCh=p.S1305=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:90:75:0:0:54,36:1813,1200:0.00,110.86:0.00,70.76:0.00,40.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,36.0:0,0:0,0:64,84:75,64:31,47:-,NM_015662.1(IFT172) c.3915T>A (p.(=)):-,0.31:-,0.375827 2 27676381 . C . . NT END=27676496;NT GT ./. 2 27676607 . C . . NT END=27676848;NT GT ./. 2 27677030 . C . . NT END=27677220;NT GT ./. 2 27677286 . C . . NT END=27677433;NT GT ./. 2 27677528 . C . . NT END=27679377;NT GT ./. 2 27677691 rs780104 G A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5457,A/0.4543;PC=0.008;Gene=IFT172/NM_015662.2/1;CC=c.3372-164C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:18:0:0:0:9,8,1:253,242,11:24.45,0.00,0.26:0.00,0.00,0.00:24.45,0.00,0.26:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.7,20.8,84.0:0,0,0:0,0,0:81,95,137:70,56,13:23,19,0:NM_015662.1(IFT172) c.3372-164C>T,-:0.4,-:NOT_FOUND,- 2 27679521 . C . . NT END=27680505;NT GT ./. 2 27680623 . C . . NT END=27680707;NT GT ./. 2 27680844 . C . . NT END=27680992;NT GT ./. 2 27681091 . C . . NT END=27681645;NT GT ./. 2 27681598 rs780106 A C 127 nt VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.5455,C/0.4545,G/.;Gene=IFT172/NM_015662.2/1;CC=c.2877+48T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:65:62:0:0:26,39:838,1271:0.00,126.71:0.00,106.07:0.00,20.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,44.0:0,0:0,0:68,35:82,115:38,27:-,NM_015662.1(IFT172) c.2877+48T>G:-,0.4:-,0.478779 2 27681736 . C . . NT END=27682244;NT GT ./. 2 27682390 . C . . NT END=27682575;NT GT ./. 2 27682697 . C . . NT END=27683881;NT GT ./. 2 27682850 rs72819536 G T 49 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6462,T/0.3538;PC=0.439;Gene=IFT172/NM_015662.2/1;CC=c.2522-154C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:G,T:22:0:0:0:7,15:174,476:0.00,48.81:0.00,0.00:0.00,48.81:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.7,34.9:0,0:0,0:78,102:73,49:26,38:-,NM_015662.1(IFT172) c.2522-154C>A:-,0.31:-,NOT_FOUND 2 27683961 . C . . NT END=27684135;NT GT ./. 2 27684385 . C . . NT END=27684625;NT GT ./. 2 27684704 . C . . NT END=27685567;NT GT ./. 2 27684734 rs780107 A G 128 nt VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.5455,G/0.4545;Gene=IFT172/NM_015662.2/1;CC=c.2116-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:52:0:0:42,40:1346,1334:0.00,127.77:0.00,53.59:0.00,74.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,40.1:0,0:0,0:100,100:50,46:12,27:-,NM_015662.1(IFT172) c.2116-31T>C:-,0.4:-,0.478779 2 27685388 rs780110 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.477,A/0.523;Gene=IFT172/NM_015662.2/1;CC=c.2115+180C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:5:5:0:0:4,1:134,35:14.22,0.00:14.22,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:62.0,0.0:0,0:0,0:85,11:65,140:27,0:NM_015662.1(IFT172) c.2115+180C>T,-:0.46,-:NOT_FOUND,- 2 27685661 . C . . NT END=27685963;NT GT ./. 2 27686049 . C . . NT END=27688277;NT GT ./. 2 27688386 . C . . NT END=27688612;NT GT ./. 2 27688601 rs1647276 C T 105 nt VT=SNV;PN=G;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.5459,T/0.4541;Gene=IFT172/NM_015662.2/1;CC=c.1829+12G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:68:0:0:48,36:1574,1126:0.00,104.85:0.00,63.59:0.00,41.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,44.3:0,0:0,0:83,56:56,93:42,25:-,NM_015662.1(IFT172) c.1829+12G>A:-,0.4:-,0.478933 2 27688750 . C . . NT END=27693794;NT GT ./. 2 27693963 . C . . NT END=27695116;NT GT ./. 2 27695230 . C . . NT END=27699507;NT GT ./. 2 27699594 . C . . NT END=27700083;NT GT ./. 2 27700188 . C . . NT END=27700425;NT GT ./. 2 27700480 . C . . NT END=27700861;NT GT ./. 2 27701024 . C . . NT END=27702375;NT GT ./. 2 27702472 . C . . NT END=27702892;NT GT ./. 2 27703017 . C . . NT END=27703912;NT GT ./. 2 27704128 . C . . NT END=27706155;NT GT ./. 2 27706244 . C . . NT END=27706446;NT GT ./. 2 27706527 . C . . NT END=27706738;NT GT ./. 2 27706640 rs2272417 T C 44 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.6296,C/0.3704;Gene=IFT172/NM_015662.2/1;CC=c.402+99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:7:0:0:14,12:451,346:43.97,0.00:12.34,0.00:31.63,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:44.1,14.2:0,0:0,0:75,88:74,62:41,30:NM_015662.1(IFT172) c.402+99A>G,-:0.32,-:NOT_FOUND,- 2 27706805 . C . . NT END=27707093;NT GT ./. 2 27707134 . C . . NT END=27707884;NT GT ./. 2 27707998 . C . . NT END=27708226;NT GT ./. 2 27708007 . TA T 7 rn VT=DEL;SST=Single;DP=27;NP=68;PC=0.590;Gene=IFT172/NM_015662.2/1;CC=c.184-11delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,TA,I,T:27:17:1:4:1,21,1,4:33,630,32,103:2.00,0.00,1.90,7.45:-0.20,0.00,2.05,3.28:2.20,0.00,-0.15,4.17:0.00,0.00,0.00,0.66:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.83:60,60,60,60:65.0,8.8,110.0,31.5:0,0,0,0:0,0,0,0:60,97,53,70:80,52,98,80:0,27,0,24:-,NM_015662.1(IFT172) c.184-11delT:-,NOT_FOUND:-,0.055751 2 27708371 . C . . NT END=27712481;NT GT ./. 2 27712521 . G . . NT END=27715261;NT GT ./. 2 27715207 rs8395 T A 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6066,A/0.3934;PC=0.150;Gene=FNDC4/NM_022823.2/1;CC=c.*103A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:26:0:0:12,15:380,452:35.69,0.00:29.60,0.00:6.08,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:33.2,10.3:0,0:0,0:65,61:86,90:53,37:NM_022823.2(FNDC4) c.*103A>T,-:0.35,-:NOT_FOUND,- 2 27715346 . C . . NT END=27715532;NT GT ./. 2 27715416 rs2303369 C T 83 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.6454,T/0.3546;Gene=FNDC4/NM_022823.2/1;CC=c.670-71G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:37:0:0:25,26:762,862:0.00,83.27:0.00,52.69:0.00,30.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.1,56.2:0,0:0,0:44,68:107,81:39,47:-,NM_022823.2(FNDC4) c.670-71G>A:-,0.31:-,0.379325 2 27715658 . C . . NT END=27716254;NT GT ./. 2 27716346 . C . . NT END=27716795;NT GT ./. 2 27716494 rs704795 G A 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5633,A/0.4367;Gene=FNDC4/NM_022823.2/1;CC=c.455-149C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:3:0:0:9,7:281,233:27.62,0.00:6.90,0.00:20.73,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:34.9,1.4:0,0:0,0:63,136:88,15:32,4:NM_022823.2(FNDC4) c.455-149C>T,-:0.39,-:NOT_FOUND,- 2 27717002 . C . . NT END=27717216;NT GT ./. 2 27717334 . C . . NT END=27717412;NT GT ./. 2 27717547 . c . . NT END=27719771;NT GT ./. 2 27719832 . G . . NT END=27720110;NT GT ./. 2 27720267 . G . . NT END=27720428;NT GT ./. 2 27720498 . G . . NT END=27721121;NT GT ./. 2 27721191 . G . . NT END=27721590;NT GT ./. 2 27721665 . G . . NT END=27722008;NT GT ./. 2 27721971 rs813592 T C 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.5437,C/0.4563;Gene=GCKR/NM_001486.3/1;CC=c.429-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:33:0:0:16,23:520,729:48.15,0.00:31.30,0.00:16.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,13.4:0,0:0,0:26,38:120,108:19,16:NM_001486.3(GCKR) c.429-38T>C,-:0.4,-:0.480009,- 2 27722076 . G . . NT END=27722263;NT GT ./. 2 27722318 . G . . NT END=27724001;NT GT ./. 2 27724097 . G . . NT END=27726380;NT GT ./. 2 27726487 . G . . NT END=27728584;NT GT ./. 2 27728704 . G . . NT END=27729347;NT GT ./. 2 27728777 rs2293572 C G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6282,G/0.3718;Gene=GCKR/NM_001486.3/1;CC=c.869+74C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:17:0:0:0:7,10:231,321:0.00,31.87:0.00,0.00:0.00,31.87:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.9,37.4:0,0:0,0:108,103:42,47:21,18:-,NM_001486.3(GCKR) c.869+74C>G:-,0.32:-,NOT_FOUND 2 27729447 . G . . NT END=27729654;NT GT ./. 2 27729480 rs2293571 G A 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.6282,A/0.3718;PC=0.008;Gene=GCKR/NM_001486.3/1;CC=c.968+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:21:0:0:20,28:576,907:52.96,0.00:12.87,0.00:40.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,3.0:0,0:0,0:122,107:28,44:18,29:NM_001486.3(GCKR) c.968+34G>A,-:0.32,-:0.384592,- 2 27729753 . G . . NT END=27730101;NT GT ./. 2 27730179 . G . . NT END=27730547;NT GT ./. 2 27730645 . G . . NT END=27730843;NT GT ./. 2 27730940 rs1260326 T C 116 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=in-clinvar;PAF=T/0.2933,C/0.7067;PC=0.996;Gene=GCKR/NM_001486.3/1;CC=c.1337T>C;ProtCh=p.L446P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:45:0:0:39,34:1193,1110:115.97,0.00:43.09,0.00:72.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,8.9:0,0:0,0:85,88:60,56:24,24:NM_001486.3(GCKR) c.1337T>C (p.Leu446Pro),-:0.62,-:0.675919,- 2 27730942 . G . . NT END=27731034;NT GT ./. 2 27731119 . G . . NT END=27741654;NT GT ./. 2 27736776 . T TTG 7 rn VT=INS;SST=Single;DP=5;NP=1;NP=2;PC=0.018;Gene=GCKR/NM_001486.3/1;CC=c.1423-4840_1423-4839insGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:T,TTG,D:5:5:2:1:2,2,1:67,68,33:0.00,6.51,2.88:0.00,6.63,1.39:0.00,-0.11,1.49:0.00,0.46,0.00:0.00,0.46,0.00:0.00,0.70,0.00:60,60,60:0.0,4.5,0.0:0,0,0:0,0,0:72,68,42:78,82,98:62,21,0:-,NM_001486.3(GCKR) c.1423-4879_1423-4878insTG:-,NOT_FOUND:-,NOT_FOUND 2 27741805 . G . . NT END=27745326;NT GT ./. 2 27745462 . G . . NT END=27746135;NT GT ./. 2 27745946 rs7589217 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6492,G/0.3508;PC=0.051;Gene=GCKR/NM_001486.3/1;CC=c.1708-190A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,G:11:11:0:0:5,6:157,157:0.00,15.24:0.00,15.41:0.00,-0.17:0.00,0.98:0.00,0.98:0.00,0.70:60,60:21.4,37.8:0,0:0,0:39,49:110,100:13,27:-,NM_001486.3(GCKR) c.1708-190A>G:-,0.31:-,NOT_FOUND 2 27746307 . A . . NT END=27799439;NT GT ./. 2 27749925 rs7420159 G A 16 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G:8:8:0:0:5,3:164,92:16.49,0.00:12.98,0.00:3.51,0.00:0.97,0.00:0.97,0.00:0.95,0.00:60,60:43.8,35.3:5,1:0,0:31,26:99,123:11,15:chr2 g.27749924G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 27749927 rs71401572 G GCGCGCACACACACA 13 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=31;NP=8;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:G,GCGCGCACACACACA,D:7:8:5:1:2,4,1:36,161,32:0.00,13.37,2.67:0.00,9.79,1.28:0.00,3.58,1.39:0.00,0.87,0.00:0.00,0.87,0.00:0.00,0.89,0.00:60,60,60:53.0,54.5,0.0:0,1,0:0,0,0:69,33,13:75,97,138:41,11,0:-,chr2 g.27749927_27749928insCGCGCACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 27804357 . GGTCCCTCTCAGAGAAGACATCACA G 107 PASS VT=DEL;SST=Single;DP=198;NP=11;Gene=C2orf16/NM_032266.3/1;CC=c.4926_4949delTCAGAGAAGACATCACAGTCCCTC;ProtCh=p.Q1643_S1650del;VC=InFrameDel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,GGTCCCTCTCAGAGAAGACATCACA,G:198:165:0:44:6,2,147,43:111,19,3949,1300:3.96,-0.43,0.00,106.62:2.66,-0.46,0.00,84.83:1.30,0.03,0.00,21.79:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:72.0,117.5,47.4,23.2:0,0,0,0:0,0,0,0:74,52,70,56:71,90,70,91:18,7,41,17:-,NM_032266.3(C2orf16) c.4926_4949delTCAGAGAAGACATCACAGTCCCTC (p.Gln1643_Ser1650del):-,NOT_FOUND:-,0.009587 2 27804365 rs201097866 T A 71 idl VT=SNV;PN=C;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=T/0.9968,A/0.003195;NP=10;PC=0.055;Gene=C2orf16/NM_032266.3/1;CC=c.4926T>A;ProtCh=p.S1642=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:152:118:0:44:29,4,119:885,37,3717:70.62,-0.54,0.00:46.63,-0.65,0.00:23.99,0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:147.0,92.0,31.9:0,0,0:0,0,0:117,57,55:34,85,80:14,15,34:NM_032266.3(C2orf16) c.4926T>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 27804366 rs201640856 C G 81 idl VT=SNV;PN=T;NN=A;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.9968,G/0.003195;NP=10;Gene=C2orf16/NM_032266.3/1;CC=c.4927C>G;ProtCh=p.Q1643E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:159:123:0:44:2,123,34:38,3875,1001:0.84,0.00,80.77:-0.34,0.00,55.00:1.17,0.00,25.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:144.0,33.8,135.9:0,0,0:0,0,0:81,48,117:61,86,33:13,32,16:-,NM_032266.3(C2orf16) c.4927C>G (p.Gln1643Glu):-,NOT_FOUND:-,NOT_FOUND 2 27804374 rs201341561 A C 95 idl VT=SNV;PN=G;NN=C;SST=Single;DP=161;DB;DBA=NA;PAF=A/0.9968,C/0.003195;NP=1;Gene=C2orf16/NM_032266.3/1;CC=c.4935A>C;ProtCh=p.R1645S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:161:123:0:44:121,38,1,1:3639,1149,9,12:0.00,95.12,-0.27,-0.21:0.00,63.79,-0.16,-0.20:0.00,31.33,-0.11,-0.01:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:27.8,140.0,232.0,77.0:0,0,0,0:0,0,0,0:57,108,56,14:75,33,94,137:33,28,0,0:-,NM_032266.3(C2orf16) c.4935A>C (p.Arg1645Ser):-,0.0009:-,0.000167 2 27804379 rs200371690 A G 86 idl VT=SNV;PN=C;NN=C;SST=Single;DP=164;DB;DBA=NA;PAF=A/0.9968,G/0.003195;NP=2;Gene=C2orf16/NM_032266.3/1;CC=c.4940A>G;ProtCh=p.H1647R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:164:125:0:44:126,38:3866,1063:0.00,85.95:0.00,50.44:0.00,35.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,142.7:0,0:0,0:62,85:69,34:34,51:-,NM_032266.3(C2orf16) c.4940A>G (p.His1647Arg):-,0.0018:-,0.000333 2 27804607 rs202029351 G A 57 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=304;DB;DBA=NA;PAF=NA;NP=1;Gene=C2orf16/NM_032266.3/1;CC=c.5168G>A;ProtCh=p.R1723Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:304:179:0:0:46,2,254,2:897,13,6323,25:56.71,-0.71,0.00,-0.50:5.86,-0.37,0.00,-0.14:50.85,-0.34,0.00,-0.35:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:80.2,107.5,28.1,99.0:0,0,0,0:0,0,0,0:61,99,65,82:72,37,75,69:26,30,36,22:NM_032266.3(C2orf16) c.5168G>A (p.Arg1723Gln),-:NOT_FOUND,-:0.000412,- 2 27804714 rs556229651 T C 52 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=321;DB;DBA=NA;PAF=NA;NP=2;Gene=C2orf16/NM_032266.3/1;CC=c.5275T>C;ProtCh=p.C1759R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:321:205:0:0:5,49,5,262:45,853,68,7296:-1.17,51.67,-0.18,0.00:-0.78,35.65,-0.16,0.00:-0.39,16.02,-0.03,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:118.2,79.1,92.4,25.2:0,0,0,0:0,0,0,0:64,77,118,73:86,61,22,69:43,24,10,35:NM_032266.3(C2orf16) c.5275T>C (p.Cys1759Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 27804738 rs199708546 T C 47 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=311;DB;DBA=NA;PAF=T/0.9972,C/0.002796;NP=6;Gene=C2orf16/NM_032266.3/1;CC=c.5299T>C;ProtCh=p.C1767R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:311:197:0:0:5,47,259:68,801,7289:-0.05,46.90,0.00:0.27,28.31,0.00:-0.31,18.59,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:95.8,80.7,27.4:2,0,0:0,0,0:77,86,76:37,63,60:35,31,38:NM_032266.3(C2orf16) c.5299T>C (p.Cys1767Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 27805395 . G . . NT END=27805979;NT GT ./. 2 27806011 . T . . NT END=27806292;NT GT ./. 2 27806394 . G . . NT END=27806524;NT GT ./. 2 27806584 . G . . NT END=27820933;NT GT ./. 2 27806793 rs145957642 G GT 55 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8417,GT/0.1583;NP=226;Gene=ZNF512/NM_001271286.1/0;CC=c.89+212dupT;VC=Intron;Gene=ZNF512/NM_001271287.1/0;CC=c.-143+786dupT;VC=Intron;Gene=ZNF512/NM_001271288.1/0;CC=c.-140+786dupT;VC=Intron;Gene=ZNF512/NM_001271289.1/0;CC=c.-143+212dupT;VC=Intron;Gene=ZNF512/NM_001271318.1/1;CC=c.-143+212dupT;VC=Intron;Gene=ZNF512/NM_032434.3/0;CC=c.89+212dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:GT:16:0:16:0:16:475:55.12:0.00:55.12:1.00:0.00:1.00:70:16.9:0:0:78:71:54:NM_032434.3(ZNF512) c.89+210_89+211insT,NM_032434.3(ZNF512) c.89+210_89+211insT:0.14,0.14:NOT_FOUND,NOT_FOUND 2 27821123 . T . . NT END=27822449;NT GT ./. 2 27822547 . T . . NT END=27822836;NT GT ./. 2 27822922 . T . . NT END=27823557;NT GT ./. 2 27823684 . T . . NT END=27824222;NT GT ./. 2 27824311 . T . . NT END=27825329;NT GT ./. 2 27825430 . T . . NT END=27826006;NT GT ./. 2 27826176 . T . . NT END=27830711;NT GT ./. 2 27830908 . T . . NT END=27838034;NT GT ./. 2 27838138 . T . . NT END=27839128;NT GT ./. 2 27838319 rs12233155 T C 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.01498,C/0.985;Gene=ZNF512/NM_001271286.1/0;CC=c.1146+183T>C;VC=Intron;Gene=ZNF512/NM_001271287.1/0;CC=c.1002+183T>C;VC=Intron;Gene=ZNF512/NM_001271288.1/0;CC=c.1002+183T>C;VC=Intron;Gene=ZNF512/NM_001271289.1/0;CC=c.918+183T>C;VC=Intron;Gene=ZNF512/NM_001271318.1/1;CC=c.1002+183T>C;VC=Intron;Gene=ZNF512/NM_032434.3/0;CC=c.1233+183T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:174:20.25:0.00:20.25:1.00:0.00:1.00:60:47.7:0:0:81:69:35:NM_032434.3(ZNF512) c.1233+183T>C,NM_032434.3(ZNF512) c.1233+183T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 27839193 . T . . NT END=27840339;NT GT ./. 2 27840440 . T . . NT END=27844019;NT GT ./. 2 27844330 . C . . NT END=27849829;NT GT ./. 2 27850785 . C . . NT END=27851256;NT GT ./. 2 27851582 . G . . NT END=27851862;NT GT ./. 2 27852037 . G . . NT END=27852241;NT GT ./. 2 27852310 . G . . NT END=27852725;NT GT ./. 2 27852389 rs116756341 C T 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9942,T/0.005791;NP=29;Gene=GPN1/NM_001145047.1/1;CC=c.75+80C>T;VC=Intron;Gene=GPN1/NM_001145048.1/0;CC=c.-126-337C>T;VC=Intron;Gene=GPN1/NM_001145049.1/0;CC=c.-67-337C>T;VC=Intron;Gene=GPN1/NM_007266.3/0;CC=c.154-337C>T;VC=Intron;Gene=GPN1/NR_026735.1/0;VC=NonCoding;DM=GPN1/ATP_bind_1;DM=GPN1/ATP_bind_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:7:0:0:8,12:220,403:0.00,40.21:0.00,7.17:0.00,33.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,38.8:0,0:0,0:102,111:47,39:24,31:-,NM_007266.3(GPN1) c.154-337C>T:-,0.01:-,NOT_FOUND 2 27852820 . G . . NT END=27853893;NT GT ./. 2 27853934 . G . . NT END=27854700;NT GT ./. 2 27854768 . G . . NT END=27855499;NT GT ./. 2 27855538 . G . . NT END=27857712;NT GT ./. 2 27857792 . G . . NT END=27858006;NT GT ./. 2 27858102 . G . . NT END=27861076;NT GT ./. 2 27861123 . G . . NT END=27861751;NT GT ./. 2 27861707 rs11692692 G A 156 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.6987,A/0.3013;Gene=GPN1/NM_001145047.1/1;CC=c.535-45G>A;VC=Intron;Gene=GPN1/NM_001145048.1/0;CC=c.334-45G>A;VC=Intron;Gene=GPN1/NM_001145049.1/0;CC=c.286-45G>A;VC=Intron;Gene=GPN1/NM_007266.3/0;CC=c.613-45G>A;VC=Intron;Gene=GPN1/NR_026735.1/0;VC=NonCoding;DM=GPN1/ATP_bind_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:33:0:0:42:1363:156.26:114.17:42.09:1.00:1.00:1.00:60:39.5:0:0:55:91:15:NM_007266.3(GPN1) c.613-45G>A,NM_007266.3(GPN1) c.613-45G>A:0.31,0.31:0.440258,0.440258 2 27861899 . G . . NT END=27862909;NT GT ./. 2 27862993 . G . . NT END=27864106;NT GT ./. 2 27863250 . C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;Gene=GPN1/NM_001145047.1/1;CC=c.764+258C>T;VC=Intron;Gene=GPN1/NM_001145048.1/0;CC=c.563+258C>T;VC=Intron;Gene=GPN1/NM_001145049.1/0;CC=c.515+258C>T;VC=Intron;Gene=GPN1/NM_007266.3/0;CC=c.842+258C>T;VC=Intron;Gene=GPN1/NR_026735.1/0;VC=NonCoding;DM=GPN1/ATP_bind_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:0:0:0:2,2:72,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,33.0:0,0:0,0:103,104:47,46:0,31:-,NM_007266.3(GPN1) c.842+258C>T:-,NOT_FOUND:-,NOT_FOUND 2 27864147 . G . . NT END=27865295;NT GT ./. 2 27865387 . G . . NT END=27870702;NT GT ./. 2 27865810 . T TTA 6 rn VT=INS;SST=Single;DP=4;NP=1;NP=13;PC=0.004;Gene=GPN1/NM_001145047.1/1;CC=c.895+440_895+441insTA;VC=Intron;Gene=GPN1/NM_001145048.1/0;CC=c.694+440_694+441insTA;VC=Intron;Gene=GPN1/NM_001145049.1/0;CC=c.646+440_646+441insTA;VC=Intron;Gene=GPN1/NM_007266.3/0;CC=c.973+440_973+441insTA;VC=Intron;Gene=GPN1/NR_026735.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:T,TTA:4:3:2:0:2,2:61,66:0.00,6.35:0.00,3.18:0.00,3.18:0.00,0.51:0.00,0.89:0.00,0.89:60,60:84.5,0.0:0,0:0,0:58,29:72,88:33,19:-,NM_007266.3(GPN1) c.973+424_973+425insTA:-,NOT_FOUND:-,NOT_FOUND 2 27870811 . G . . NT END=27872981;NT GT ./. 2 27870853 rs145512340 T C 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.9932,C/0.006789;NP=82;PC=0.713;Gene=GPN1/NM_001145047.1/1;CC=c.1003+43T>C;VC=Intron;Gene=GPN1/NM_001145048.1/0;CC=c.802+43T>C;VC=Intron;Gene=GPN1/NM_001145049.1/0;CC=c.754+43T>C;VC=Intron;Gene=GPN1/NM_007266.3/0;CC=c.1081+43T>C;VC=Intron;Gene=GPN1/NR_026735.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:6:0:0:13,9:406,302:40.31,0.00:8.44,0.00:31.87,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:51.2,3.2:0,0:0,0:110,92:41,59:21,21:NM_007266.3(GPN1) c.1081+43T>C,-:0.01,-:0.011533,- 2 27873068 . G . . NT END=27876351;NT GT ./. 2 27876615 . C . . NT END=27878231;NT GT ./. 2 27878470 . C . . NT END=27880211;NT GT ./. 2 27880537 . C . . NT END=27883850;NT GT ./. 2 27884469 . C . . NT END=27885045;NT GT ./. 2 27884878 rs1569152 C T 68 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.008586,T/0.9914;Gene=SUPT7L/NM_001282729.1/0;CC=c.14+168G>A;VC=Intron;Gene=SUPT7L/NM_001282730.1/0;CC=c.-206+168G>A;VC=Intron;Gene=SUPT7L/NM_001282731.1/0;CC=c.-48+168G>A;VC=Intron;Gene=SUPT7L/NM_001282732.1/0;CC=c.14+168G>A;VC=Intron;Gene=SUPT7L/NM_014860.2/1;CC=c.14+168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:18:0:0:18:591:67.68:65.75:1.94:1.00:1.00:1.00:60:43.9:0:0:46:104:26:NM_014860.1(SUPT7L) c.14+168G>A,NM_014860.1(SUPT7L) c.14+168G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 27885060 . T . . NT END=27886619;NT GT ./. 2 27885332 rs7586426 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.008586,G/0.9914;Gene=SUPT7L/NM_001282729.1/0;CC=c.-89-184T>C;VC=Intron;Gene=SUPT7L/NM_001282730.1/0;CC=c.-308-184T>C;VC=Intron;Gene=SUPT7L/NM_001282731.1/0;CC=c.-150-184T>C;VC=Intron;Gene=SUPT7L/NM_001282732.1/0;CC=c.-89-184T>C;VC=Intron;Gene=SUPT7L/NM_014860.2/1;CC=c.-89-184T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A,G:8:0:0:0:1,7:8,238:0.00,25.99:0.00,0.00:0.00,25.99:0.00,1.00:0.00,0.00:0.00,1.00:60,60:88.0,38.1:0,0:0,0:96,68:54,82:0,20:NM_014860.1(SUPT7L) c.-89-184T>C,NM_014860.1(SUPT7L) c.-89-184T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 27887034 rs9678851 C A 477 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.6609,A/0.3391,G/.,T/.;Gene=SLC4A1AP/NM_018158.2/1;CC=c.415C>A;ProtCh=p.P139T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:135:79:0:0:134,1:4153,10:477.05,0.00:217.32,0.00:259.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,76.0:0,0:0,0:70,34:70,116:29,0:NM_018158.2(SLC4A1AP) c.415C>A (p.Pro139Thr),NM_018158.2(SLC4A1AP) c.415C>A (p.Pro139Thr):0.34,0.34:0.477007,0.477007 2 27887445 . G . . NT END=27887966;NT GT ./. 2 27887770 rs60597294 TA T 11 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=9;PC=0.091;Gene=SLC4A1AP/NM_018158.2/1;CC=c.826-180delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:TA,I,T:10:9:1:4:5,1,4:154,31,117:0.00,2.35,10.90:0.00,2.40,11.13:0.00,-0.05,-0.22:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.60:60,60,60:26.8,0.0,69.8:0,0,0:0,0,0:87,14,78:63,135,72:40,0,23:-,NM_018158.2(SLC4A1AP) c.826-196delA:-,NOT_FOUND:-,NOT_FOUND 2 27888163 . G . . NT END=27890134;NT GT ./. 2 27890258 . G . . NT END=27891709;NT GT ./. 2 27890262 rs370816726 G A 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.615;Gene=SLC4A1AP/NM_018158.2/1;CC=c.1144+5G>A;VC=Intron;DM=SLC4A1AP/dsrm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:43:0:0:26,47:870,1597:78.77,0.00:38.41,0.00:40.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.8,11.2:0,0:0,0:84,89:64,59:30,24:NM_018158.2(SLC4A1AP) c.1144+5G>A,-:NOT_FOUND,-:0.000077,- 2 27891771 . G . . NT END=27892114;NT GT ./. 2 27892255 . G . . NT END=27898398;NT GT ./. 2 27896857 rs145900373 TTGTGTGTGTGTGTG T 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=142;PC=0.175;Gene=SLC4A1AP/NM_018158.2/1;CC=c.1346-1514_1346-1501delGTGTGTGTGTGTGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:TTGTGTGTGTGTGTG,T:5:3:0:3:2,3:63,93:0.00,9.27:0.00,6.01:0.00,3.26:0.00,0.78:0.00,0.94:0.00,0.87:60,60:0.0,14.3:0,0:0,0:121,53:23,96:11,19:-,NM_018158.2(SLC4A1AP) c.1346-1541_1346-1528delTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 27898560 . G . . NT END=27900161;NT GT ./. 2 27900232 . G . . NT END=27900604;NT GT ./. 2 27900792 . G . . NT END=27905114;NT GT ./. 2 27905227 . G . . NT END=27907903;NT GT ./. 2 27905388 rs548231584 ATTCT A 20 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=ATTCT/0.654,A/0.346;DB;DBA=NA;PAF=ATTCT/0.654,A/0.346;NP=35;PC=0.818;Gene=SLC4A1AP/NM_018158.2/1;CC=c.1875+165_1875+168delCTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:ATTCT,A:7:0:0:7:1,6:21,187:0.00,20.32:0.00,0.00:0.00,20.32:0.00,1.00:0.00,0.00:0.00,1.00:60,70:11.0,24.5:1,0:0,0:2,106:148,43:0,30:-,NM_018158.2(SLC4A1AP) c.1875+163_1875+166delTTCT:-,NOT_FOUND:-,NOT_FOUND 2 27908145 . G . . NT END=27910800;NT GT ./. 2 27910888 . G . . NT END=27911566;NT GT ./. 2 27911635 . G . . NT END=27916551;NT GT ./. 2 27916622 . G . . NT END=27917500;NT GT ./. 2 27917551 . T . . NT END=27994644;NT GT ./. 2 27994667 . G . . NT END=27995540;NT GT ./. 2 27995560 . G . . NT END=27997290;NT GT ./. 2 27995781 rs3736594 A C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4754,C/0.5246;PC=0.007;Gene=MRPL33/NM_004891.3/1;CC=c.41+222A>C;VC=Intron;Gene=MRPL33/NM_145330.2/0;CC=c.41+222A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:34.8:0:0:13:138:12:NM_004891.3(MRPL33) c.41+222A>C,NM_004891.3(MRPL33) c.41+222A>C:0.54,0.54:NOT_FOUND,NOT_FOUND 2 27997398 . G . . NT END=28002299;NT GT ./. 2 28002424 . C . . NT END=28004481;NT GT ./. 2 28004656 . C . . NT END=28050433;NT GT ./. 2 28050623 . C . . NT END=28055552;NT GT ./. 2 28055645 . C . . NT END=28065933;NT GT ./. 2 28066099 . C . . NT END=28069908;NT GT ./. 2 28069972 . C . . NT END=28070900;NT GT ./. 2 28070965 . C . . NT END=28081305;NT GT ./. 2 28081439 . C . . NT END=28113123;NT GT ./. 2 28113213 . C . . NT END=28117423;NT GT ./. 2 28117552 . G . . NT END=28152698;NT GT ./. 2 28152776 . G . . NT END=28210859;NT GT ./. 2 28205711 rs70953896 T TATAC 9 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=6;NP=6;NP=60;PC=0.023;Gene=BRE/NM_001261840.1/0;CC=c.206-5148_206-5147insTACA;VC=Intron;Gene=BRE/NM_004899.4/0;CC=c.206-5148_206-5147insTACA;VC=Intron;Gene=BRE/NM_199191.2/0;CC=c.206-5148_206-5147insTACA;VC=Intron;Gene=BRE/NM_199192.2/0;CC=c.206-5148_206-5147insTACA;VC=Intron;Gene=BRE/NM_199193.2/1;CC=c.206-5148_206-5147insTACA;VC=Intron;Gene=BRE/NM_199194.2/0;CC=c.206-5148_206-5147insTACA;VC=Intron;DM=BRE/BRE;DM=BRE/BRE;DM=BRE/BRE;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TATAC:4:2:3:0:1,3:34,82:0.00,8.65:0.00,1.17:0.00,7.48:0.00,0.85:0.00,0.95:0.00,0.99:60,70:27.0,28.3:1,0:0,0:124,105:27,41:0,5:-,NM_004899.4(BRE) c.206-5149_206-5148insATAC:-,NOT_FOUND:-,NOT_FOUND 2 28210955 . G . . NT END=28248092;NT GT ./. 2 28248288 . G . . NT END=28268591;NT GT ./. 2 28268467 rs6738887 C T 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4477,T/0.5523;PC=0.999;Gene=BRE/NM_001261840.1/0;CC=c.496-125C>T;VC=Intron;Gene=BRE/NM_004899.4/0;CC=c.496-125C>T;VC=Intron;Gene=BRE/NM_199191.2/0;CC=c.496-125C>T;VC=Intron;Gene=BRE/NM_199192.2/0;CC=c.496-125C>T;VC=Intron;Gene=BRE/NM_199193.2/1;CC=c.496-125C>T;VC=Intron;Gene=BRE/NM_199194.2/0;CC=c.496-125C>T;VC=Intron;DM=BRE/BRE;DM=BRE/BRE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:309:35.63:35.63:0.00:1.00:1.00:0.00:60:32.6:0:0:87:63:32:NM_004899.4(BRE) c.496-125C>T,NM_004899.4(BRE) c.496-125C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 2 28268667 . G . . NT END=28352137;NT GT ./. 2 28268822 rs1506533 G A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01058,A/0.9894;PC=0.047;Gene=BRE/NM_001261840.1/0;CC=c.570+156G>A;VC=Intron;Gene=BRE/NM_004899.4/0;CC=c.570+156G>A;VC=Intron;Gene=BRE/NM_199191.2/0;CC=c.570+156G>A;VC=Intron;Gene=BRE/NM_199192.2/0;CC=c.570+156G>A;VC=Intron;Gene=BRE/NM_199193.2/1;CC=c.570+156G>A;VC=Intron;Gene=BRE/NM_199194.2/0;CC=c.570+156G>A;VC=Intron;DM=BRE/BRE;DM=BRE/BRE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:54.5:0:0:93:57:10:NM_004899.4(BRE) c.570+156G>A,NM_004899.4(BRE) c.570+156G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 28352248 . G . . NT END=28460068;NT GT ./. 2 28460169 . G . . NT END=28464189;NT GT ./. 2 28464261 . G . . NT END=28467646;NT GT ./. 2 28464369 . C CT 7 rn VT=INS;SST=Single;DP=20;NP=8;Gene=BRE/NM_001261840.1/0;CC=c.851+121_851+122insT;VC=Intron;Gene=BRE/NM_004899.4/0;CC=c.851+121_851+122insT;VC=Intron;Gene=BRE/NM_199191.2/0;CC=c.851+121_851+122insT;VC=Intron;Gene=BRE/NM_199192.2/0;CC=c.851+121_851+122insT;VC=Intron;Gene=BRE/NM_199193.2/1;CC=c.851+121_851+122insT;VC=Intron;Gene=BRE/NM_199194.2/0;CC=c.851+121_851+122insT;VC=Intron;DM=BRE/BRE;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,CT,D:20:0:3:1:16,3,1:447,96,34:0.00,7.44,2.22:0.00,0.00,0.00:0.00,7.44,2.22:0.00,0.50,0.00:0.00,0.00,0.00:0.00,0.50,0.00:60,60,60:26.4,4.0,0.0:0,0,0:0,0,0:95,114,89:56,36,62:24,14,0:-,NM_004899.4(BRE) c.851+109_851+110insT:-,NOT_FOUND:-,NOT_FOUND 2 28464435 rs6737817 T C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.001198,C/0.9988;NP=1381;Gene=BRE/NM_001261840.1/0;CC=c.851+175T>C;VC=Intron;Gene=BRE/NM_004899.4/0;CC=c.851+175T>C;VC=Intron;Gene=BRE/NM_199191.2/0;CC=c.851+175T>C;VC=Intron;Gene=BRE/NM_199192.2/0;CC=c.851+175T>C;VC=Intron;Gene=BRE/NM_199193.2/1;CC=c.851+175T>C;VC=Intron;Gene=BRE/NM_199194.2/0;CC=c.851+175T>C;VC=Intron;DM=BRE/BRE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:209:24.20:0.00:24.20:1.00:0.00:1.00:60:36.7:0:0:133:18:11:NM_004899.4(BRE) c.851+175T>C,NM_004899.4(BRE) c.851+175T>C:1,1:NOT_FOUND,NOT_FOUND 2 28467730 . G . . NT END=28521204;NT GT ./. 2 28467955 . A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;Gene=BRE/NM_001261840.1/0;CC=c.934+226A>G;VC=Intron;Gene=BRE/NM_004899.4/0;CC=c.934+226A>G;VC=Intron;Gene=BRE/NM_199191.2/0;CC=c.934+226A>G;VC=Intron;Gene=BRE/NM_199192.2/0;CC=c.934+226A>G;VC=Intron;Gene=BRE/NM_199193.2/1;CC=c.934+226A>G;VC=Intron;Gene=BRE/NM_199194.2/0;CC=c.934+226A>G;VC=Intron;DM=BRE/BRE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:10:0:0:0:7,3:231,103:0.00,9.08:0.00,0.00:0.00,9.08:0.00,0.62:0.00,0.00:0.00,0.62:60,60:8.7,34.3:0,0:0,0:95,111:55,40:39,33:-,NM_004899.4(BRE) c.934+226A>G:-,NOT_FOUND:-,NOT_FOUND 2 28521057 rs4665408 C T 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4637,T/0.5363;PC=0.005;Gene=BRE/NM_001261840.1/0;CC=c.935-148C>T;VC=Intron;Gene=BRE/NM_004899.4/0;CC=c.935-148C>T;VC=Intron;Gene=BRE/NM_199191.2/0;CC=c.935-148C>T;VC=Intron;Gene=BRE/NM_199192.2/0;CC=c.935-148C>T;VC=Intron;Gene=BRE/NM_199193.2/1;CC=c.935-148C>T;VC=Intron;Gene=BRE/NM_199194.2/0;CC=c.935-148C>T;VC=Intron;DM=BRE/BRE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:12,10:397,330:0.00,31.19:0.00,31.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.8,35.7:0,0:0,0:43,51:107,98:36,28:-,NM_004899.4(BRE) c.935-148C>T:-,0.55:-,NOT_FOUND 2 28521359 . G . . NT END=28532948;NT GT ./. 2 28533021 . G . . NT END=28550140;NT GT ./. 2 28550315 . G . . NT END=28561316;NT GT ./. 2 28561397 . G . . NT END=28616587;NT GT ./. 2 28616690 . G . . NT END=28626973;NT GT ./. 2 28627226 . G . . NT END=28631625;NT GT ./. 2 28631734 . G . . NT END=28633339;NT GT ./. 2 28633443 . G . . NT END=28634796;NT GT ./. 2 28633551 rs72775173 C T 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9577,T/0.04233;Gene=FOSL2/NM_005253.3/1;CC=c.463-1246C>T;VC=Intron;DM=FOSL2/bZIP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:11:0:0:0:8,3:242,103:0.00,8.93:0.00,0.00:0.00,8.93:0.00,0.60:0.00,0.00:0.00,0.60:60,60:0.0,34.3:0,0:0,0:102,128:48,20:26,10:-,NM_005253.3(FOSL2) c.463-1246C>T:-,0.06:-,NOT_FOUND 2 28634790 rs12624279 G A 97 nt VT=SNV;PN=C;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.7059,A/0.2941;Gene=FOSL2/NM_005253.3/1;CC=c.463-7G>A;VC=Intron;DM=FOSL2/bZIP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:65:0:0:34,51:1056,1664:96.94,0.00:54.33,0.00:42.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,4.9:0,0:0,0:68,50:82,97:29,27:NM_005253.3(FOSL2) c.463-7G>A,-:0.28,-:0.360218,- 2 28635316 . C . . NT END=28718981;NT GT ./. 2 28657849 . TACAC T 8 idl,rn VT=DEL;SST=Single;DP=10;NP=2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:TACAC,T:8:8:0:5:5,3:160,157:0.00,8.19:0.00,3.44:0.00,4.75:0.00,0.62:0.00,0.92:0.00,0.86:60,60:8.2,58.0:0,2:0,0:125,62:25,76:3,21:-,chr2 g.28657850_28657853delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 28657896 rs1111336 A C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6951,C/0.3049;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,C:7:5:0:0:4,3:92,100:0.00,9.37:0.00,3.15:0.00,6.22:0.00,0.69:0.00,0.93:0.00,0.69:60,60:37.0,33.3:0,0:0,0:44,121:82,23:7,7:-,chr2 g.28657895A>C (intergenic):-,0.31:-,NOT_FOUND 2 28718897 rs4665423 A G 101 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.03574,G/0.9643;PC=0.067 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:23:0:0:26:886:101.00:77.08:23.91:1.00:1.00:1.00:60:43.3:0:0:36:114:19:NM_153021.4(PLB1) c.-44-u41A>G,NM_153021.4(PLB1) c.-44-u41A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 28719037 . G . . NT END=28739674;NT GT ./. 2 28739737 . G . . NT END=28741332;NT GT ./. 2 28741400 . G . . NT END=28742571;NT GT ./. 2 28742631 . G . . NT END=28748133;NT GT ./. 2 28748175 . G . . NT END=28748771;NT GT ./. 2 28748451 rs4666084 A C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.03215,C/0.9679;Gene=PLB1/NM_001170585.1/0;CC=c.284+277A>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.284+277A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:4:0:0:6:153:18.10:11.15:6.95:1.00:1.00:1.00:60:64.3:0:0:69:81:31:NM_153021.4(PLB1) c.284+277A>C,NM_153021.4(PLB1) c.284+277A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 28748813 . G . . NT END=28752183;NT GT ./. 2 28748857 rs4666085 T C 170 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.03235,C/0.9677;Gene=PLB1/NM_001170585.1/0;CC=c.325+45T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.325+45T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:C:44:19:0:0:44:1491:170.08:44.23:125.85:1.00:1.00:1.00:60:52.6:0:0:90:56:25:NM_153021.4(PLB1) c.325+45T>C,NM_153021.4(PLB1) c.325+45T>C:0.97,0.97:0.978625,0.978625 2 28748916 rs10181687 A C 92 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.603,C/0.397;Gene=PLB1/NM_001170585.1/0;CC=c.325+104A>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.325+104A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:5:0:0:25:796:91.52:9.34:82.18:1.00:1.00:1.00:60:62.1:0:0:117:34:24:NM_153021.4(PLB1) c.325+104A>C,NM_153021.4(PLB1) c.325+104A>C:0.4,0.4:NOT_FOUND,NOT_FOUND 2 28752275 . G . . NT END=28752594;NT GT ./. 2 28752498 rs6728486 T C 118 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.03275,C/0.9673;Gene=PLB1/NM_001170585.1/0;CC=c.417-97T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.417-97T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:26:0:0:31:1036:118.37:86.82:31.55:1.00:1.00:1.00:60:61.0:0:0:59:92:36:NM_153021.4(PLB1) c.417-97T>C,NM_153021.4(PLB1) c.417-97T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 28752555 rs4473343 T C 142 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.09425,C/0.9058;Gene=PLB1/NM_001170585.1/0;CC=c.417-40T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.417-40T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C:36:31:0:0:36:1250:142.17:87.93:54.24:1.00:1.00:1.00:60:54.4:0:0:60:85:25:NM_153021.4(PLB1) c.417-40T>C,NM_153021.4(PLB1) c.417-40T>C:0.9,0.9:0.904352,0.904352 2 28752647 . G . . NT END=28754974;NT GT ./. 2 28752727 rs6710800 C G 87 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.03295,G/0.9671;Gene=PLB1/NM_001170585.1/0;CC=c.468+81C>G;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.468+81C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:6:0:0:23:756:86.57:14.12:72.45:1.00:1.00:1.00:60:59.7:0:0:116:35:14:NM_153021.4(PLB1) c.468+81C>G,NM_153021.4(PLB1) c.468+81C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 28752741 rs6725577 A G 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.09245,G/0.9075;Gene=PLB1/NM_001170585.1/0;CC=c.468+95A>G;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.468+95A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:4:0:0:19:614:70.40:7.75:62.65:1.00:1.00:1.00:60:66.9:0:0:111:40:29:NM_153021.4(PLB1) c.468+95A>G,NM_153021.4(PLB1) c.468+95A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 28755062 . G . . NT END=28761152;NT GT ./. 2 28761249 . G . . NT END=28761965;NT GT ./. 2 28761257 rs7589169 A G 114 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.1478,G/0.8522;Gene=PLB1/NM_001170585.1/0;CC=c.651+9A>G;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.618+9A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:16:0:0:31:993:113.93:39.86:74.08:1.00:1.00:1.00:60:65.8:0:0:81:65:30:NM_153021.4(PLB1) c.618+9A>G,NM_153021.4(PLB1) c.618+9A>G:0.86,0.86:0.858406,0.858406 2 28761282 rs7589254 A G 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.1468,G/0.8532;Gene=PLB1/NM_001170585.1/0;CC=c.651+34A>G;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.618+34A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:14:0:0:28:840:97.20:28.43:68.77:1.00:1.00:1.00:60:70.1:0:0:98:52:24:NM_153021.4(PLB1) c.618+34A>G,NM_153021.4(PLB1) c.618+34A>G:0.86,0.86:0.857572,0.857572 2 28761481 rs8179651 C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.147,T/0.853;Gene=PLB1/NM_001170585.1/0;CC=c.651+233C>T;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.618+233C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:60:72.8:0:0:116:34:3:NM_153021.4(PLB1) c.618+233C>T,NM_153021.4(PLB1) c.618+233C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 28761484 rs8179821 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.147,A/0.853;Gene=PLB1/NM_001170585.1/0;CC=c.651+236G>A;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.618+236G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:140:15.91:0.00:15.91:1.00:0.00:1.00:60:72.8:0:0:119:31:3:NM_153021.4(PLB1) c.618+236G>A,NM_153021.4(PLB1) c.618+236G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 28761981 rs6753929 G C 48 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8005,A/.,C/0.1995;PC=1.000;Gene=PLB1/NM_001170585.1/0;CC=c.667G>C;ProtCh=p.V223L;VC=Missense;Gene=PLB1/NM_153021.4/1;CC=c.634G>C;ProtCh=p.V212L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:40:29:0:0:15,25:526,859:48.26,0.00:37.03,0.00:11.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,5.2:0,0:0,0:48,57:103,80:28,30:NM_153021.4(PLB1) c.634G>C (p.Val212Leu),-:0.21,-:0.217976,- 2 28762046 . G . . NT END=28763232;NT GT ./. 2 28763309 . G . . NT END=28764573;NT GT ./. 2 28763374 rs11127162 G T 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6565,T/0.3435;Gene=PLB1/NM_001170585.1/0;CC=c.807+66G>T;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.774+66G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:26:9:0:0:8,18:274,493:0.00,50.77:0.00,11.99:0.00,38.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,40.0:0,0:0,0:77,113:72,31:44,25:-,NM_153021.4(PLB1) c.774+66G>T:-,0.33:-,NOT_FOUND 2 28764452 rs13406540 C T 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4543,T/0.5457;Gene=PLB1/NM_001170585.1/0;CC=c.808-122C>T;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.775-122C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:9:9:0:0:4,5:129,164:0.00,16.10:0.00,16.10:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:53.2,78.4:0,0:0,0:73,44:78,107:13,29:-,NM_153021.4(PLB1) c.775-122C>T:-,0.57:-,NOT_FOUND 2 28764458 rs11127163 C A 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1098,A/0.8902;Gene=PLB1/NM_001170585.1/0;CC=c.808-116C>A;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.775-116C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:334:38.17:38.17:0.00:1.00:1.00:0.00:60:63.6:0:0:60:91:26:NM_153021.4(PLB1) c.775-116C>A,NM_153021.4(PLB1) c.775-116C>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 28764679 . G . . NT END=28766078;NT GT ./. 2 28766136 . G . . NT END=28771726;NT GT ./. 2 28766254 rs11127164 T C 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.63,C/0.37;Gene=PLB1/NM_001170585.1/0;CC=c.969+119T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.936+119T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:1:0:0:8,10:239,294:22.36,0.00:3.42,0.00:18.93,0.00:0.99,0.00:0.63,0.00:1.00,0.00:60,60:39.6,19.8:0,0:0,0:126,106:24,43:12,17:NM_153021.4(PLB1) c.936+119T>C,-:0.35,-:NOT_FOUND,- 2 28771624 rs11680168 T G 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.1218,G/0.8782;Gene=PLB1/NM_001170585.1/0;CC=c.970-103T>G;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.937-103T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:432:49.83:47.79:2.04:1.00:1.00:1.00:60:38.1:0:0:35:115:24:NM_153021.4(PLB1) c.937-103T>G,NM_153021.4(PLB1) c.937-103T>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 28771799 . G . . NT END=28772876;NT GT ./. 2 28771897 rs11680304 T C 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4541,C/0.5459;Gene=PLB1/NM_001170585.1/0;CC=c.1041+99T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.1008+99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:C,G:18:2:0:0:17,1:522,13:59.89,0.62:3.55,0.00:56.33,0.62:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,125.0:0,0:0,0:124,22:27,129:11,0:NM_153021.4(PLB1) c.1008+99T>C,NM_153021.4(PLB1) c.1008+99T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 2 28772952 . G . . NT END=28775794;NT GT ./. 2 28775859 . G . . NT END=28785907;NT GT ./. 2 28785967 . G . . NT END=28788146;NT GT ./. 2 28788221 . G . . NT END=28789662;NT GT ./. 2 28789643 rs10186460 T C 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.6364,C/0.3636;Gene=PLB1/NM_001170585.1/0;CC=c.1314-20T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.1281-20T>C;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:38:27:0:0:1,18,19:8,626,615:-0.07,60.05,0.00:-0.12,31.42,0.00:0.05,28.63,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:218.0,38.1,3.1:0,0,0:0,0,0:84,54,65:54,90,77:0,15,46:NM_153021.4(PLB1) c.1281-20T>C,-:0.36,-:0.432646,- 2 28789707 . G . . NT END=28796063;NT GT ./. 2 28795893 rs13005799 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5905,A/0.4095;Gene=PLB1/NM_001170585.1/0;CC=c.1358-171G>A;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.1325-171G>A;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:221:25.44:25.44:0.00:1.00:1.00:0.00:60:93.4:0:0:34:116:22:NM_153021.4(PLB1) c.1325-171G>A,NM_153021.4(PLB1) c.1325-171G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 28795899 rs13007288 C T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6446,T/0.3554;Gene=PLB1/NM_001170585.1/0;CC=c.1358-165C>T;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.1325-165C>T;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:93.4:0:0:40:110:22:NM_153021.4(PLB1) c.1325-165C>T,NM_153021.4(PLB1) c.1325-165C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 2 28795962 rs13005854 G A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5964,A/0.4036;Gene=PLB1/NM_001170585.1/0;CC=c.1358-102G>A;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.1325-102G>A;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:390:44.72:44.72:0.00:1.00:1.00:0.00:60:68.1:0:0:60:89:30:NM_153021.4(PLB1) c.1325-102G>A,NM_153021.4(PLB1) c.1325-102G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 2 28796173 . G . . NT END=28800973;NT GT ./. 2 28796291 rs1881251 G A 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5745,A/0.4255;Gene=PLB1/NM_001170585.1/0;CC=c.1466+119G>A;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.1433+119G>A;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:0:0:0:15:478:54.94:0.00:54.94:1.00:0.00:1.00:60:40.5:0:0:118:33:28:NM_153021.4(PLB1) c.1433+119G>A,NM_153021.4(PLB1) c.1433+119G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 2 28801026 . G . . NT END=28802493;NT GT ./. 2 28802575 . G . . NT END=28804934;NT GT ./. 2 28805001 . G . . NT END=28805271;NT GT ./. 2 28805373 . G . . NT END=28808627;NT GT ./. 2 28808710 . G . . NT END=28812316;NT GT ./. 2 28812422 . G . . NT END=28812541;NT GT ./. 2 28812638 . G . . NT END=28812871;NT GT ./. 2 28812944 . G . . NT END=28813999;NT GT ./. 2 28814039 . G . . NT END=28814566;NT GT ./. 2 28814628 . G . . NT END=28815527;NT GT ./. 2 28815587 . G . . NT END=28816547;NT GT ./. 2 28816425 rs10176136 T C 80 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5018,C/0.4982;Gene=PLB1/NM_001170585.1/0;CC=c.2215-123T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.2248-123T>C;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:21:0:0:21:698:79.79:79.79:0.00:1.00:1.00:0.00:60:46.0:0:0:61:90:24:NM_153021.4(PLB1) c.2248-123T>C,NM_153021.4(PLB1) c.2248-123T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 28816622 . G . . NT END=28820871;NT GT ./. 2 28820916 . G . . NT END=28821518;NT GT ./. 2 28821144 . G A 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;PC=0.002;Gene=PLB1/NM_001170585.1/0;CC=c.2332+229G>A;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.2365+229G>A;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:0:0:0:3,2:99,68:9.87,0.00:0.00,0.00:9.87,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:40.7,0.0:0,0:0,0:90,84:61,66:40,33:NM_153021.4(PLB1) c.2365+229G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 28821628 . G . . NT END=28823675;NT GT ./. 2 28821832 rs7573949 T C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.02296,C/0.977;Gene=PLB1/NM_001170585.1/0;CC=c.2441+205T>C;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.2474+205T>C;VC=Intron;DM=PLB1/Lipase_GDSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:203:23.59:0.00:23.59:1.00:0.00:1.00:60:37.4:0:0:84:67:36:NM_153021.4(PLB1) c.2474+205T>C,NM_153021.4(PLB1) c.2474+205T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 28823728 . g . . NT END=28824118;NT GT ./. 2 28824200 . G . . NT END=28824765;NT GT ./. 2 28824832 . G . . NT END=28825687;NT GT ./. 2 28825789 . G . . NT END=28826832;NT GT ./. 2 28826915 . G . . NT END=28827521;NT GT ./. 2 28827627 . G . . NT END=28828719;NT GT ./. 2 28828816 . G . . NT END=28829362;NT GT ./. 2 28829435 . G . . NT END=28836897;NT GT ./. 2 28836964 . G . . NT END=28840593;NT GT ./. 2 28840655 . G . . NT END=28841207;NT GT ./. 2 28841267 . G . . NT END=28843131;NT GT ./. 2 28843200 . G . . NT END=28843466;NT GT ./. 2 28843511 . G . . NT END=28843745;NT GT ./. 2 28843846 . G . . NT END=28847923;NT GT ./. 2 28847666 rs75112505 T TC 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=753;Gene=PLB1/NM_001170585.1/0;CC=c.3495-256dupC;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.3528-256dupC;VC=Intron;DM=PLB1/Lipase_GDSL;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TC:4:4:4:0:4:118:13.71:13.71:0.00:1.00:1.00:0.00:60:2.8:0:0:73:76:12:NM_153021.4(PLB1) c.3528-258_3528-257insC,NM_153021.4(PLB1) c.3528-258_3528-257insC:1,1:NOT_FOUND,NOT_FOUND 2 28847976 . G . . NT END=28849294;NT GT ./. 2 28849376 . G . . NT END=28851429;NT GT ./. 2 28851496 . G . . NT END=28851960;NT GT ./. 2 28852053 . G . . NT END=28853452;NT GT ./. 2 28853532 . G . . NT END=28854902;NT GT ./. 2 28855008 . G . . NT END=28855810;NT GT ./. 2 28855907 . G . . NT END=28863792;NT GT ./. 2 28855918 rs79952871 A AG 152 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3452;Gene=PLB1/NM_001170585.1/0;CC=c.4065+14dupG;VC=Intron;Gene=PLB1/NM_153021.4/1;CC=c.4098+14dupG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A,AG:43:25:42:0:1,42:30,1339:0.00,151.87:0.00,57.13:0.00,94.73:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,6.6:0,0:0,0:148,97:3,49:0,34:NM_153021.4(PLB1) c.4098+12_4098+13insG,NM_153021.4(PLB1) c.4098+12_4098+13insG:1,1:NOT_FOUND,NOT_FOUND 2 28863868 . G . . NT END=28865723;NT GT ./. 2 28865928 . G . . NT END=28974990;NT GT ./. 2 28963148 . TAC T 12 idl,rn VT=DEL;SST=Single;DP=6;NP=2;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:6:4:169:12.40:10.10:2.30:0.93:0.99:0.91:70:72.5:2:0:32:117:26:XR_109967.1(LOC100505774) n.-4120_-4119delGT,XR_109967.1(LOC100505774) n.-4120_-4119delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 28975043 . G . . NT END=28999716;NT GT ./. 2 28999849 . G . . NT END=29001674;NT GT ./. 2 29001691 rs1128416 A G 66 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.5046,C/.,G/0.4954;PC=0.976;Gene=PPP1CB/NM_206876.1/1;CC=c.201A>G;ProtCh=p.Q67=;VC=Silent;Gene=PPP1CB/NM_002709.2/0;CC=c.201A>G;ProtCh=p.Q67=;VC=Silent;DM=PPP1CB/Metallophos;DM=PPP1CB/Metallophos;DM=PPP1CB/Metallophos;DM=PPP1CB/Metallophos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:34:0:0:16,21:483,666:0.00,65.61:0.00,54.40:0.00,11.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,36.2:0,0:0,0:47,68:98,82:34,39:-,NM_002709.2(PPP1CB) c.201A>G (p.(=)):-,0.48:-,0.595062 2 29001906 . G . . NT END=29004603;NT GT ./. 2 29004709 . G . . NT END=29006772;NT GT ./. 2 29004923 rs6740859 G A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.01318,A/0.9868;NP=519;PC=0.004;Gene=PPP1CB/NM_206876.1/1;CC=c.520+215G>A;VC=Intron;Gene=PPP1CB/NM_002709.2/0;CC=c.520+215G>A;VC=Intron;DM=PPP1CB/Metallophos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,C:6:0:0:0:5,1:146,5:16.57,0.28:0.00,0.00:16.57,0.28:0.99,0.00:0.00,0.00:0.99,0.00:60,60:54.8,76.0:0,0:0,0:57,69:93,80:28,0:NM_002709.2(PPP1CB) c.520+215G>A,NM_002709.2(PPP1CB) c.520+215G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 29006591 rs6547877 G C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5044,C/0.4956;Gene=PPP1CB/NM_206876.1/1;CC=c.521-182G>C;VC=Intron;Gene=PPP1CB/NM_002709.2/0;CC=c.521-182G>C;VC=Intron;DM=PPP1CB/Metallophos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,G:8:8:0:0:4,4:139,141:13.40,0.00:13.40,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:34.8,66.8:0,0:0,0:55,79:96,71:25,23:NM_002709.2(PPP1CB) c.521-182G>C,-:0.47,-:NOT_FOUND,- 2 29006845 . G . . NT END=29011523;NT GT ./. 2 29006962 rs114802424 C T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9898,T/0.01018;Gene=PPP1CB/NM_206876.1/1;CC=c.592+118C>T;VC=Intron;Gene=PPP1CB/NM_002709.2/0;CC=c.592+118C>T;VC=Intron;DM=PPP1CB/Metallophos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:12:0:0:0:6,6:211,194:0.00,18.65:0.00,0.00:0.00,18.65:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,34.3:0,0:0,0:95,70:55,80:17,19:-,NM_002709.2(PPP1CB) c.592+118C>T:-,0.01:-,NOT_FOUND 2 29011676 . G . . NT END=29016728;NT GT ./. 2 29016864 . G . . NT END=29022064;NT GT ./. 2 29022170 . A . . NT END=29038880;NT GT ./. 2 29038149 rs374392526 AACACAC A 20 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=5;PC=0.006;Gene=SPDYA/NM_001142634.1/0;CC=c.-18-675_-18-670delACACAC;VC=Intron;Gene=SPDYA/NM_182756.3/1;CC=c.-19+636_-19+641delACACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:AACACAC,A:7:8:0:8:1,6:31,258:0.00,20.33:0.00,14.08:0.00,6.25:0.00,1.00:0.00,1.00:0.00,0.97:60,60:0.0,18.7:0,2:0,0:114,70:37,76:0,4:-,NM_182756.3(SPDYA) c.-19+598_-19+603delACACAC:-,NOT_FOUND:-,NOT_FOUND 2 29039116 . G . . NT END=29041913;NT GT ./. 2 29041973 . G . . NT END=29045190;NT GT ./. 2 29045277 . G . . NT END=29052013;NT GT ./. 2 29045323 rs4436918 C T 97 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.03634,T/0.9637;PC=0.003;Gene=SPDYA/NM_001142634.1/0;CC=c.380+47C>T;VC=Intron;Gene=SPDYA/NM_182756.3/1;CC=c.380+47C>T;VC=Intron;Gene=SPDYA/NM_001008779.1/0;CC=c.380+47C>T;VC=Intron;DM=SPDYA/Spy1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:1:0:0:27:846:97.37:3.88:93.49:1.00:1.00:1.00:60:38.7:0:0:77:74:31:NM_182756.3(SPDYA) c.380+47C>T,NM_182756.3(SPDYA) c.380+47C>T:0.98,0.98:0.969465,0.969465 2 29052186 . G . . NT END=29063037;NT GT ./. 2 29052256 rs12998251 T C 100 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.1216,C/0.8784;PC=0.892;Gene=SPDYA/NM_001142634.1/0;CC=c.552+71T>C;VC=Intron;Gene=SPDYA/NM_182756.3/1;CC=c.552+71T>C;VC=Intron;Gene=SPDYA/NM_001008779.1/0;CC=c.552+71T>C;VC=Intron;DM=SPDYA/Spy1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A,C:31:6:0:0:1,30:11,859:0.32,99.60:0.00,16.13:0.32,83.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.0,38.5:0,0:0,0:91,103:60,45:0,25:NM_182756.3(SPDYA) c.552+71T>C,NM_182756.3(SPDYA) c.552+71T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 29063676 . C . . NT END=29072715;NT GT ./. 2 29072808 . G . . NT END=29073064;NT GT ./. 2 29073109 . C . . NT END=29073193;NT GT ./. 2 29073272 . C . . NT END=29073937;NT GT ./. 2 29074165 . C . . NT END=29075273;NT GT ./. 2 29075366 . C . . NT END=29083983;NT GT ./. 2 29084175 . C . . NT END=29087882;NT GT ./. 2 29085701 rs397984195 TA T 14 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TA/0.2418,T/0.7582;DB;DBA=NA;PAF=TA/0.2418,T/0.7582;NP=573;Gene=TRMT61B/NM_017910.3/1;CC=c.803-1528delT;VC=Intron;DM=TRMT61B/GCD14;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:4:4:119:13.81:8.69:5.11:1.00:1.00:1.00:60:7.8:0:0:74:69:28:NM_017910.3(TRMT61B) c.803-1528delT,NM_017910.3(TRMT61B) c.803-1528delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 29087814 rs55785599 C A 79 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5581,A/0.4419;Gene=TRMT61B/NM_017910.3/1;CC=c.802+69G>T;VC=Intron;DM=TRMT61B/GCD14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:21:0:0:21:686:78.61:73.35:5.26:1.00:1.00:1.00:60:35.4:0:0:38:112:27:NM_017910.3(TRMT61B) c.802+69G>T,NM_017910.3(TRMT61B) c.802+69G>T:0.48,0.48:NOT_FOUND,NOT_FOUND 2 29087986 . C . . NT END=29092444;NT GT ./. 2 29092679 rs4233729 T C 331 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.4948,C/0.5052;PC=0.992;Gene=TRMT61B/NM_017910.3/1;CC=c.465A>G;ProtCh=p.E155=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:88:64:0:0:87,1:2910,9:330.72,0.00:203.77,0.00:126.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,40:42.9,171.0:0,0:0,0:67,99:82,36:32,0:NM_017910.3(TRMT61B) c.465A>G (p.(=)),NM_017910.3(TRMT61B) c.465A>G (p.(=)):0.53,0.53:0.410734,0.410734 2 29092850 rs4666122 G T 489 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.4948,T/0.5052;Gene=TRMT61B/NM_017910.3/1;CC=c.294C>A;ProtCh=p.S98=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:134:89:0:0:1,133:9,4273:0.00,488.88:0.00,223.23:0.00,265.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:233.0,39.6:0,0:0,0:134,71:16,69:0,28:NM_017910.3(TRMT61B) c.294C>A (p.(=)),NM_017910.3(TRMT61B) c.294C>A (p.(=)):0.53,0.53:0.41081,0.41081 2 29093144 . A . . NT END=29117564;NT GT ./. 2 29117295 rs371677345 C T 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=1;NP=125;NP=2;NP=36;NP=4;NP=5;NP=5;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:1:6:163:19.12:15.25:3.88:1.00:1.00:1.00:60:107.5:1:0:56:84:5:NM_015131.1(WDR43) c.-32-u238C>T,NM_015131.1(WDR43) c.-32-u238C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 29117790 . G . . NT END=29124852;NT GT ./. 2 29124991 . G . . NT END=29129325;NT GT ./. 2 29129300 rs397868491 AT A 130 idl,rn VT=DEL;SST=Single;DP=75;DB;DBA=NA;PAF=AT/0.5186,A/0.4814;DB;DBA=NA;PAF=AT/0.5186,A/0.4814;NP=79;PC=0.039;Gene=WDR43/NM_015131.2/1;CC=c.364-10delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:70:59:1:46:28,1,41:850,32,1461:0.00,1.64,129.64:0.00,1.69,83.90:0.00,-0.05,45.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.5,50.0,19.0:0,0,5:0,0,0:61,25,60:79,125,88:27,0,24:-,NM_015131.1(WDR43) c.364-25delT:-,NOT_FOUND:-,NOT_FOUND 2 29129418 rs11688605 A G 133 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.6286,G/0.3714;PC=0.997;Gene=WDR43/NM_015131.2/1;CC=c.456A>G;ProtCh=p.E152=;VC=Silent;DM=WDR43/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:49:0:0:40,43:1294,1373:0.00,132.77:0.00,59.87:0.00,72.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,43.9:0,0:0,0:67,86:77,65:35,33:-,NM_015131.1(WDR43) c.456A>G (p.(=)):-,0.4:-,0.207841 2 29129448 . G . . NT END=29135455;NT GT ./. 2 29129682 rs57693531 T G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6288,G/0.3712;PC=0.001;Gene=WDR43/NM_015131.2/1;CC=c.485+235T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:G,T:6:0:0:0:3,3:95,93:9.12,0.00:0.00,0.00:9.12,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:52.7,30.3:0,0:0,0:117,120:34,26:0,13:NM_015131.1(WDR43) c.485+235T>G,-:0.4,-:NOT_FOUND,- 2 29135468 rs6715296 C G 129 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.3007,G/0.6993,T/.;PC=0.020;Gene=WDR43/NM_015131.2/1;CC=c.498C>G;ProtCh=p.G166=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:108:85:0:0:59,48,1:1843,1378,10:0.00,128.64,-0.14:0.00,67.95,-0.16:0.00,60.68,0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.4,37.7,10.0:0,0,0:0,0,0:69,39,86:79,110,64:36,25,0:-,NM_015131.1(WDR43) c.498C>G (p.(=)):-,0.71:-,0.673261 2 29135577 . G . . NT END=29136934;NT GT ./. 2 29135790 rs6730523 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3005,G/0.6995;Gene=WDR43/NM_015131.2/1;CC=c.606+214A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,C,G:15:0:0:0:9,1,5:307,5,122:0.00,-0.14,10.60:0.00,0.00,0.00:0.00,-0.14,10.60:0.00,0.00,0.89:0.00,0.00,0.00:0.00,0.00,0.89:60,60,70:4.1,10.0,60.6:0,0,0:0,0,0:130,128,139:20,22,12:13,0,7:-,NM_015131.1(WDR43) c.606+214A>G:-,0.71:-,NOT_FOUND 2 29137075 . G . . NT END=29140758;NT GT ./. 2 29137278 rs12714250 G C 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.246,C/0.754;PC=0.012;Gene=WDR43/NM_015131.2/1;CC=c.746+204G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,G:11:0:0:0:6,5:190,167:18.55,0.00:0.00,0.00:18.55,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:66.0,2.4:0,0:0,0:89,125:61,25:18,17:NM_015131.1(WDR43) c.746+204G>C,-:0.75,-:NOT_FOUND,- 2 29137309 rs56289239 C T 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6222,T/0.3778;PC=0.971;Gene=WDR43/NM_015131.2/1;CC=c.746+235C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:8:0:0:0:2,6:68,175:0.00,18.37:0.00,0.00:0.00,18.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,65.8:0,0:0,0:92,108:57,42:40,27:-,NM_015131.1(WDR43) c.746+235C>T:-,0.4:-,NOT_FOUND 2 29140711 rs4389288 G A 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6218,A/0.3782;Gene=WDR43/NM_015131.2/1;CC=c.747-48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:23:0:0:11,14:337,480:31.50,0.00:26.90,0.00:4.60,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:35.8,4.2:0,0:0,0:52,19:99,131:23,17:NM_015131.1(WDR43) c.747-48G>A,-:0.4,-:0.202978,- 2 29140862 . G . . NT END=29145784;NT GT ./. 2 29145548 rs57312136 C G 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9213,G/0.07867;PC=0.001;Gene=WDR43/NM_015131.2/1;CC=c.850-237C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,G:7:7:0:0:1,6:30,201:0.00,21.72:0.00,21.72:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.0,33.5:0,0:0,0:1,80:150,70:0,42:-,NM_015131.1(WDR43) c.850-237C>G:-,0.09:-,NOT_FOUND 2 29145725 rs9653591 G T 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.3013,T/0.6987;PC=0.010;Gene=WDR43/NM_015131.2/1;CC=c.850-60G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:37:33:0:0:1,16,20:10,460,606:0.04,0.00,59.38:0.07,0.00,35.36:-0.03,0.00,24.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.0,9.1,43.2:0,0,0:0,0,0:45,27,37:106,119,109:0,11,12:-,NM_015131.1(WDR43) c.850-60G>T:-,0.71:-,0.672361 2 29145850 . G . . NT END=29147847;NT GT ./. 2 29148020 . G . . NT END=29149333;NT GT ./. 2 29149051 rs4666140 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6544,T/0.3456;PC=0.002;Gene=WDR43/NM_015131.2/1;CC=c.1087-283C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:35.0,66.3:0,0:0,0:73,52:78,99:0,13:-,NM_015131.1(WDR43) c.1087-283C>T:-,0.37:-,NOT_FOUND 2 29149421 . G . . NT END=29150434;NT GT ./. 2 29150567 . G . . NT END=29152444;NT GT ./. 2 29152384 rs34113296 T G 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.9036,A/.,G/0.09645;PC=0.001;Gene=WDR43/NM_015131.2/1;CC=c.1306-61T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:46:43:0:0:21,25:710,802:67.25,0.00:50.26,0.00:16.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.9,9.9:0,0:0,0:48,40:91,104:20,29:NM_015131.1(WDR43) c.1306-61T>G,-:0.11,-:NOT_FOUND,- 2 29152456 rs1140697 A G 85 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.5823,G/0.4177;PC=1.000;Gene=WDR43/NM_015131.2/1;CC=c.1317A>G;ProtCh=p.E439=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:52:0:0:36,30:1169,907:0.00,85.16:0.00,44.08:0.00,41.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,57.1:0,0:0,0:66,75:80,75:29,29:-,NM_015131.1(WDR43) c.1317A>G (p.(=)):-,0.42:-,0.629658 2 29152577 . G . . NT END=29158386;NT GT ./. 2 29158474 . G . . NT END=29159787;NT GT ./. 2 29159820 . G . . NT END=29160796;NT GT ./. 2 29160861 . G . . NT END=29164326;NT GT ./. 2 29161010 rs4233731 G A 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1192,A/0.8808;Gene=WDR43/NM_015131.2/1;CC=c.1620+150G>A;VC=Intron;DM=WDR43/Utp12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:0:0:0:16:545:62.13:0.00:62.13:1.00:0.00:1.00:60:35.3:0:0:76:75:35:NM_015131.1(WDR43) c.1620+150G>A,NM_015131.1(WDR43) c.1620+150G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 2 29164441 . G . . NT END=29165177;NT GT ./. 2 29165248 . G . . NT END=29169315;NT GT ./. 2 29165469 rs10716859 AT A 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=165;PC=0.083;Gene=WDR43/NM_015131.2/1;CC=c.1804+232delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AT,A:6:0:0:4:2,4:66,125:0.00,12.75:0.00,0.00:0.00,12.75:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,9.0:0,0:0,0:129,123:22,28:15,12:-,NM_015131.1(WDR43) c.1804+223delT:-,0.69:-,NOT_FOUND 2 29169194 rs6745598 A G 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.2909,G/0.7091;Gene=WDR43/NM_015131.2/1;CC=c.1805-122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:17:17:0:0:8,1,8:221,10,252:0.00,0.19,24.22:0.00,0.19,24.22:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:12.9,165.0,33.1:0,0,0:0,0,0:32,33,22:117,118,127:17,0,19:-,NM_015131.1(WDR43) c.1805-122A>G:-,0.72:-,NOT_FOUND 2 29169366 . G . . NT END=29169465;NT GT ./. 2 29169612 rs3087649 T C 158 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.2448,C/0.7552;PC=1.000;Gene=WDR43/NM_015131.2/1;CC=c.2001T>C;ProtCh=p.D667=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:98:61:0:0:1,50,47:11,1637,1507:-0.08,158.38,0.00:0.02,71.77,0.00:-0.10,86.61,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:54.0,38.8,8.6:0,0,0:0,0,0:15,87,71:136,59,80:0,23,32:NM_015131.1(WDR43) c.2001T>C (p.(=)),-:0.75,-:0.724257,- 2 29169646 . A . . NT END=29217700;NT GT ./. 2 29217729 . G . . NT END=29221008;NT GT ./. 2 29217896 rs7563398 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3546,T/0.6454;Gene=FAM179A/NM_199280.2/1;CC=c.28+168C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:10:0:0:0:5,5:158,169:0.00,16.28:0.00,0.00:0.00,16.28:0.00,0.95:0.00,0.00:0.00,0.95:60,60:0.0,33.8:0,0:0,0:84,114:67,37:36,27:-,NM_199280.2(FAM179A) c.28+168C>T:-,0.66:-,NOT_FOUND 2 29221120 . G . . NT END=29222046;NT GT ./. 2 29221994 rs72786175 G T 79 nt VT=SNV;PN=T;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.9355,T/0.0645;PC=0.005;Gene=FAM179A/NM_199280.2/1;CC=c.140-53G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:58:55:0:0:31,27:1000,838:0.00,79.23:0.00,63.47:0.00,15.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.8,34.1:0,0:0,0:45,46:96,92:29,28:-,NM_199280.2(FAM179A) c.140-53G>T:-,0.07:-,NOT_FOUND 2 29222070 rs13009279 G A 167 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.6715,A/0.3285;Gene=FAM179A/NM_199280.2/1;CC=c.163G>A;ProtCh=p.A55T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:111:92:0:0:55,1,55:1735,12,1872:166.61,-0.07,0.00:123.98,0.01,0.00:42.63,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:33.8,23.0,14.7:0,0,0:0,0,0:64,131,61:87,19,81:35,0,35:NM_199280.2(FAM179A) c.163G>A (p.Ala55Thr),-:0.34,-:0.256763,- 2 29222335 . G . . NT END=29225401;NT GT ./. 2 29222388 rs57018089 G C 255 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.4808,C/0.5192;Gene=FAM179A/NM_199280.2/1;CC=c.427+54G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:72:27:0:0:71,1:2216,10:254.87,0.13:65.91,0.00:188.96,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,157.0:0,0:0,0:101,98:49,53:25,0:NM_199280.2(FAM179A) c.427+54G>C,NM_199280.2(FAM179A) c.427+54G>C:0.54,0.54:NOT_FOUND,NOT_FOUND 2 29225502 rs72786178 T G 183 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.8111,G/0.1889;PC=0.052;Gene=FAM179A/NM_199280.2/1;CC=c.528T>G;ProtCh=p.P176=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:115:81:0:0:58,57:1900,1819:183.01,0.00:87.29,0.00:95.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.7,7.6:0,0:0,0:69,85:80,65:25,29:NM_199280.2(FAM179A) c.528T>G (p.(=)),-:0.19,-:0.163332,- 2 29225504 rs72786179 T C 176 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.8111,C/0.1889;PC=1.000;Gene=FAM179A/NM_199280.2/1;CC=c.530T>C;ProtCh=p.L177P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:115:82:0:0:57,58:1839,1928:176.48,0.00:86.73,0.00:89.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.6,6.5:0,0:0,0:74,84:72,63:27,25:NM_199280.2(FAM179A) c.530T>C (p.Leu177Pro),-:0.19,-:0.162982,- 2 29225614 . G . . NT END=29226357;NT GT ./. 2 29225710 rs72786181 C T 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.9419,T/0.05811;Gene=FAM179A/NM_199280.2/1;CC=c.639+97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:3:0:0:10,15:313,438:0.00,43.59:0.00,3.16:0.00,40.44:0.00,1.00:0.00,0.94:0.00,1.00:60,60:3.7,31.7:0,0:0,0:117,94:34,57:18,41:-,NM_199280.2(FAM179A) c.639+97C>T:-,0.06:-,NOT_FOUND 2 29226498 rs12613325 G A 157 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.4067,A/0.5933;Gene=FAM179A/NM_199280.2/1;CC=c.780G>A;ProtCh=p.P260=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:78:0:0:50,59:1653,1939:156.50,0.00:73.81,0.00:82.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:82.4,53.6:0,0:0,0:94,74:50,65:27,27:NM_199280.2(FAM179A) c.780G>A (p.(=)),-:0.62,-:0.661926,- 2 29226512 rs12623297 A G 357 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.2552,G/0.7448;PC=0.999;Gene=FAM179A/NM_199280.2/1;CC=c.794A>G;ProtCh=p.Q265R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:100:64:0:0:100:3099:357.25:151.44:205.81:1.00:1.00:1.00:60:74.5:0:0:87:54:28:NM_199280.2(FAM179A) c.794A>G (p.Gln265Arg),NM_199280.2(FAM179A) c.794A>G (p.Gln265Arg):0.78,0.78:0.797264,0.797264 2 29226549 . G . . NT END=29234320;NT GT ./. 2 29226559 rs12619829 C T 248 nt VT=SNV;PN=C;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.3496,G/.,T/0.6504;Gene=FAM179A/NM_199280.2/1;CC=c.830+11C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:30:0:0:68:2153:247.58:79.23:168.35:1.00:1.00:1.00:60:83.1:0:0:105:35:27:NM_199280.2(FAM179A) c.830+11C>T,NM_199280.2(FAM179A) c.830+11C>T:0.68,0.68:0.745699,0.745699 2 29234368 . G . . NT END=29237260;NT GT ./. 2 29237428 . G . . NT END=29240019;NT GT ./. 2 29239942 rs11685375 T G 134 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.7901,G/0.2099;PC=0.003;Gene=FAM179A/NM_199280.2/1;CC=c.1045-78T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:66:60:0:0:43,23:1323,669:134.15,0.00:109.44,0.00:24.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.7,18.2:0,0:0,0:56,41:94,109:33,19:NM_199280.2(FAM179A) c.1045-78T>G,-:0.21,-:NOT_FOUND,- 2 29240060 rs11127202 A G 219 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=A/0.7873,G/0.2127;PC=1.000;Gene=FAM179A/NM_199280.2/1;CC=c.1085A>G;ProtCh=p.Q362R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:135:106:0:0:63,72:2128,2249:0.00,218.68:0.00,116.61:0.00,102.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,37.9:0,0:0,0:58,58:87,90:33,31:-,NM_199280.2(FAM179A) c.1085A>G (p.Gln362Arg):-,0.21:-,0.233414 2 29240171 . G . . NT END=29240657;NT GT ./. 2 29240272 rs11899716 G T 79 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.7873,T/0.2127;Gene=FAM179A/NM_199280.2/1;CC=c.1195+102G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:3:0:0:16,25:515,790:0.00,79.03:0.00,1.23:0.00,77.79:0.00,1.00:0.00,0.95:0.00,1.00:60,60:2.4,47.4:0,0:0,0:92,111:58,40:38,30:-,NM_199280.2(FAM179A) c.1195+102G>T:-,0.21:-,NOT_FOUND 2 29240466 rs72788138 G C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9485,C/0.05152;PC=0.014;Gene=FAM179A/NM_199280.2/1;CC=c.1196-192G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,G:12:10:0:0:4,8:138,238:12.40,0.00:9.37,0.00:3.03,0.00:0.80,0.00:0.97,0.00:0.63,0.00:60,60:51.2,32.9:0,0:0,0:27,30:122,120:7,14:NM_199280.2(FAM179A) c.1196-192G>C,-:0.06,-:NOT_FOUND,- 2 29240582 rs66482868 T C 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.7905,C/0.2095;PC=0.001;Gene=FAM179A/NM_199280.2/1;CC=c.1196-76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:46:44:0:0:27,1,18:820,10,508:81.67,0.02,0.00:71.70,0.05,0.00:9.98,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.7,45.0,24.4:0,0,0:0,0,0:60,150,23:88,1,118:34,0,20:NM_199280.2(FAM179A) c.1196-76T>C,-:0.21,-:NOT_FOUND,- 2 29240673 rs35166194 G A 133 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.7943,A/0.2057;PC=0.261;Gene=FAM179A/NM_199280.2/1;CC=c.1211G>A;ProtCh=p.R404Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:76:0:0:42,47:1394,1394:132.79,0.00:80.86,0.00:51.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:86.8,22.9:0,0:0,0:62,34:87,117:36,20:NM_199280.2(FAM179A) c.1211G>A (p.Arg404Gln),-:0.21,-:0.226649,- 2 29240686 rs34261417 A C 135 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.7905,C/0.2095;Gene=FAM179A/NM_199280.2/1;CC=c.1224A>C;ProtCh=p.T408=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:99:82:0:0:51,47,1:1676,1425,12:0.00,135.39,-0.07:0.00,74.25,0.02:0.00,61.14,-0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:21.1,87.1,47.0:0,0,0:0,0,0:54,53,64:97,90,87:33,28,0:-,NM_199280.2(FAM179A) c.1224A>C (p.(=)):-,0.21:-,0.230615 2 29240783 rs1109758 A G 439 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.5986,C/.,G/0.4014;PC=0.064;Gene=FAM179A/NM_199280.2/1;CC=c.1321A>G;ProtCh=p.I441V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:123:83:0:0:1,120,2:12,3832,22:0.13,438.76,0.40:0.13,201.79,0.00:0.00,236.96,0.40:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:57.0,47.8,24.5:0,0,0:0,0,0:105,75,84:36,65,67:0,32,0:NM_199280.2(FAM179A) c.1321A>G (p.Ile441Val),NM_199280.2(FAM179A) c.1321A>G (p.Ile441Val):0.41,0.41:0.397819,0.397819 2 29240823 . G . . NT END=29245023;NT GT ./. 2 29241097 rs72788140 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9475,T/0.05252;Gene=FAM179A/NM_199280.2/1;CC=c.1360+275C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,T:6:0:0:0:2,4:54,101:0.00,10.33:0.00,0.00:0.00,10.33:0.00,0.93:0.00,0.00:0.00,0.93:60,60:36.5,25.2:0,0:0,0:110,106:40,44:36,28:-,NM_199280.2(FAM179A) c.1360+275C>T:-,0.06:-,NOT_FOUND 2 29245175 . G . . NT END=29245951;NT GT ./. 2 29245933 rs13420380 G A 129 nt VT=SNV;PN=G;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=0.005;Gene=FAM179A/NM_199280.2/1;CC=c.1512-19G>A;VC=Intron;DM=FAM179A/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:63:0:0:41,33:1315,1097:128.94,0.00:80.41,0.00:48.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.9,4.5:0,0:0,0:37,31:96,110:22,23:NM_199280.2(FAM179A) c.1512-19G>A,-:0.45,-:0.316565,- 2 29246044 rs6721861 T C 118 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.5256,C/0.4744;PC=0.997;Gene=FAM179A/NM_199280.2/1;CC=c.1604T>C;ProtCh=p.V535A;VC=Missense;DM=FAM179A/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:77:49:0:0:40,37:1227,1232:118.49,0.00:49.88,0.00:68.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,5.6:0,0:0,0:103,95:44,50:22,34:NM_199280.2(FAM179A) c.1604T>C (p.Val535Ala),-:0.52,-:0.402612,- 2 29246058 . G . . NT END=29247004;NT GT ./. 2 29247241 . G . . NT END=29249718;NT GT ./. 2 29247304 rs66715573 C T 61 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.7813,T/0.2187;Gene=FAM179A/NM_199280.2/1;CC=c.1853+64C>T;VC=Intron;DM=FAM179A/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:40:8:0:0:18,1,21:517,14,629:0.00,0.25,61.20:0.00,-0.01,10.45:0.00,0.26,50.76:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:63.7,287.0,46.8:1,0,0:0,0,0:95,64,125:53,84,21:28,0,12:-,NM_199280.2(FAM179A) c.1853+64C>T:-,0.26:-,NOT_FOUND 2 29249878 . G . . NT END=29255799;NT GT ./. 2 29249903 rs11884174 G C 131 nt VT=SNV;PN=G;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.8369,C/0.1631;Gene=FAM179A/NM_199280.2/1;CC=c.2012+26G>C;VC=Intron;DM=FAM179A/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:91:47:0:0:42,49:1384,1645:131.15,0.00:48.98,0.00:82.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,3.4:0,0:0,0:93,95:54,55:28,32:NM_199280.2(FAM179A) c.2012+26G>C,-:0.16,-:0.200812,- 2 29250075 rs11896479 C T 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4137,T/0.5863;Gene=FAM179A/NM_199280.2/1;CC=c.2012+198C>T;VC=Intron;DM=FAM179A/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G,T:11:0:0:0:1,10:9,281:0.45,32.41:0.00,0.00:0.45,32.41:0.00,1.00:0.00,0.00:0.00,1.00:60,60:169.0,59.0:0,0:0,0:88,107:57,43:0,36:NM_199280.2(FAM179A) c.2012+198C>T,NM_199280.2(FAM179A) c.2012+198C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 2 29255918 . G . . NT END=29256334;NT GT ./. 2 29256430 . G . . NT END=29258329;NT GT ./. 2 29256564 rs7590355 A T 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=FAM179A/NM_199280.2/1;CC=c.2225+135A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,T:14:0:0:0:8,6:213,169:0.00,15.59:0.00,0.00:0.00,15.59:0.00,0.96:0.00,0.00:0.00,0.96:60,60:43.2,33.7:0,0:0,0:88,102:61,48:39,25:-,NM_199280.2(FAM179A) c.2225+135A>T:-,0.3:-,NOT_FOUND 2 29258193 rs878292 A G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6302,G/0.3698;Gene=FAM179A/NM_199280.2/1;CC=c.2226-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:14:14:0:0:8,6:208,158:0.00,14.52:0.00,14.52:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:27.1,39.5:0,0:0,0:60,62:91,89:49,21:-,NM_199280.2(FAM179A) c.2226-137A>G:-,0.42:-,NOT_FOUND 2 29258523 . G . . NT END=29259406;NT GT ./. 2 29259624 . G . . NT END=29268189;NT GT ./. 2 29268277 . G . . NT END=29274621;NT GT ./. 2 29274960 . A . . NT END=29287734;NT GT ./. 2 29281796 rs62130332 T TGG 14 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=8;PC=0.425;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:T,TGG:11:7:5:0:6,5:192,149:0.00,13.99:0.00,8.61:0.00,5.38:0.00,0.93:0.00,0.98:0.00,0.96:60,70:48.2,84.6:0,0:0,0:128,54:16,92:13,5:-,chr2 g.29281796_29281797insGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 29281800 rs571400732 T G 32 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:5:0:0:9:279:32.19:11.92:20.27:1.00:1.00:1.00:70:78.1:5:0:65:68:10:chr2 g.29281799T>G (intergenic),chr2 g.29281799T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 29281804 rs4666165 T G 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:5:0:0:8:219:25.62:8.53:17.10:1.00:1.00:1.00:70:83.0:0:0:66:73:5:chr2 g.29281803T>G (intergenic),chr2 g.29281803T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 29281867 rs12714258 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8946,G/0.1054;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:3:0:0:5:142:16.46:4.88:11.58:1.00:1.00:1.00:70:97.4:0:0:125:25:2:chr2 g.29281866A>G (intergenic),chr2 g.29281866A>G (intergenic):0.13,0.13:NOT_FOUND,NOT_FOUND 2 29287708 rs10182566 C T 176 nt VT=SNV;PN=G;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.6729,T/0.3271;Gene=C2orf71/NM_001029883.2/1;CC=c.*27G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:114:101:0:0:3,53,58:33,1774,1813:0.23,0.00,175.58:0.42,0.00,124.16:-0.18,0.00,51.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:27.7,6.6,39.9:0,0,0:0,0,0:112,65,40:39,83,108:30,30,27:-,NM_001029883.2(C2orf71) c.*27G>A:-,0.33:-,0.284035 2 29287926 rs35753661 C CGCT 198 PASS VT=INS;SST=Single;DP=155;DB;DBA=NA;PAF=C/0.6264,CGCT/0.3736;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6264,CGCT/0.3736;NP=223;PC=0.974;Gene=C2orf71/NM_001029883.2/1;CC=c.3673_3675dupAGC;ProtCh=p.S1225_E1226insS;VC=InFrameIns;DM=C2orf71/Retinal;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CGCT:155:79:66:0:89,66:2719,2121:0.00,197.61:0.00,56.36:0.00,141.25:0.00,1.00:0.00,1.00:0.00,1.00:60,70:11.2,6.6:1,0:0,0:109,97:31,51:25,21:-,NM_001029883.2(C2orf71) c.3673_3675dupAGC (p.Ser1225dup):-,NOT_FOUND:-,0.318223 2 29287934 . C . . NT END=29293459;NT GT ./. 2 29288109 rs12620307 A G 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.624,G/0.376;Gene=C2orf71/NM_001029883.2/1;CC=c.3669-176T>C;VC=Intron;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:8,9:207,279:0.00,27.09:0.00,0.00:0.00,27.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:47.0,52.2:0,0:0,0:123,103:25,48:6,26:-,NM_001029883.2(C2orf71) c.3669-176T>C:-,0.38:-,NOT_FOUND 2 29288224 rs12714260 G C 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6488,C/0.3512;PC=0.018;Gene=C2orf71/NM_001029883.2/1;CC=c.3669-291C>G;VC=Intron;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,G:7:0:0:0:4,3:127,107:12.53,0.00:0.00,0.00:12.53,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:51.8,0.0:0,0:0,0:110,107:40,43:22,27:NM_001029883.2(C2orf71) c.3669-291C>G,-:0.35,-:NOT_FOUND,- 2 29293241 rs6749000 A C 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3666,C/0.6334;PC=0.059;Gene=C2orf71/NM_001029883.2/1;CC=c.3668+219T>G;VC=Intron;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:444:51.05:51.05:0.00:1.00:1.00:0.00:60:60.0:0:0:26:123:10:NM_001029883.2(C2orf71) c.3668+219T>G,NM_001029883.2(C2orf71) c.3668+219T>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 29294629 rs34253433 C T 208 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=C/0.8752,T/0.1248;Gene=C2orf71/NM_001029883.2/1;CC=c.2499G>A;ProtCh=p.P833=;VC=Silent;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:174:99:0:0:101,73:3053,2242:0.00,207.73:0.00,79.73:0.00,128.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,42.9:0,0:0,0:94,68:53,77:31,37:-,NM_001029883.2(C2orf71) c.2499G>A (p.(=)):-,0.15:-,0.175304 2 29294754 rs17744093 G C 186 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=138;DB;DBA=NA;PAF=G/0.875,C/0.125;PC=0.034;Gene=C2orf71/NM_001029883.2/1;CC=c.2374C>G;ProtCh=p.L792V;VC=Missense;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:138:87:0:0:59,79:1988,2479:186.07,0.00:85.28,0.00:100.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,8.6:0,0:0,0:74,83:75,61:39,33:NM_001029883.2(C2orf71) c.2374C>G (p.Leu792Val),-:0.15,-:0.175111,- 2 29295016 rs10200693 A G 260 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=177;DB;DBA=NA;PAF=A/0.6661,G/0.3339;Gene=C2orf71/NM_001029883.2/1;CC=c.2112T>C;ProtCh=p.N704=;VC=Silent;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:177:106:0:0:88,1,88:2828,15,2715:0.00,-0.04,260.05:0.00,0.08,104.25:0.00,-0.12,155.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.5,35.0,38.8:0,0,0:0,0,0:88,3,80:60,144,69:29,0,39:-,NM_001029883.2(C2orf71) c.2112T>C (p.(=)):-,0.33:-,0.304676 2 29295676 rs13385188 G A 161 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.6683,A/0.3317;Gene=C2orf71/NM_001029883.2/1;CC=c.1452C>T;ProtCh=p.S484=;VC=Silent;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:152:93:0:0:58,1,92,1:1766,12,2944,13:160.71,-0.16,0.00,-0.14:83.96,-0.13,0.00,0.01:76.76,-0.03,0.00,-0.15:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:42.1,47.0,14.9,94.0:0,0,0,0:0,0,0,0:85,76,67,138:59,75,81,7:38,0,29,0:NM_001029883.2(C2orf71) c.1452C>T (p.(=)),-:0.33,-:0.30412,- 2 29296870 rs62132765 C T 235 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=C/0.8888,T/0.1112;Gene=C2orf71/NM_001029883.2/1;CC=c.258G>A;ProtCh=p.R86=;VC=Silent;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:167:98:0:0:1,89,77:9,2965,2478:-0.18,0.00,234.71:-0.12,0.00,108.11:-0.06,0.00,126.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:62.0,5.6,37.3:0,0,0:0,0,0:51,90,78:100,55,72:0,32,29:-,NM_001029883.2(C2orf71) c.258G>A (p.(=)):-,0.13:-,0.168148 2 29297068 rs35929540 C T 207 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=143;DB;DBA=NA;PAF=C/0.8834,T/0.1166;PC=0.988;Gene=C2orf71/NM_001029883.2/1;CC=c.60G>A;ProtCh=p.Q20=;VC=Silent;DM=C2orf71/Retinal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:143:82:0:0:74,69:2449,2175:0.00,207.37:0.00,87.52:0.00,119.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,35.0:0,0:0,0:75,91:73,53:31,30:-,NM_001029883.2(C2orf71) c.60G>A (p.(=)):-,0.14:-,0.173189 2 29297128 . G . . NT END=29344254;NT GT ./. 2 29297334 rs68079907 CTGT C 16 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CTGT/0.889,C/0.111;DB;DBA=NA;PAF=CTGT/0.889,C/0.111;NP=15;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:CTGT,C:13:0:0:6:7,6:210,173:0.00,16.28:0.00,0.00:0.00,16.28:0.00,0.97:0.00,0.00:0.00,0.97:60,60:43.4,20.8:0,0:0,0:106,37:44,113:34,8:-,NM_001029883.2(C2orf71) c.1-u210_1-u208delACA:-,0.13:-,NOT_FOUND 2 29344127 rs17693414 T G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.9391,G/0.0609;PC=0.009;Gene=CLIP4/NM_001287528.1/0;CC=c.-15-113T>G;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.-15-113T>G;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.-15-113T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:G,T:16:15:0:0:10,6:285,188:28.63,0.00:29.05,0.00:-0.43,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:38.1,0.0:0,0:0,0:58,46:92,105:30,26:NM_024692.4(CLIP4) c.-15-113T>G,-:0.08,-:NOT_FOUND,- 2 29344388 . G . . NT END=29353495;NT GT ./. 2 29344410 rs56075962 T A 81 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.9571,A/0.04293;Gene=CLIP4/NM_001287528.1/0;CC=c.133+23T>A;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.133+23T>A;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.133+23T>A;VC=Intron;DM=CLIP4/Ank_2;DM=CLIP4/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:37:16:0:0:25,12:792,397:80.99,0.00:14.54,0.00:66.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,7.5:0,0:0,0:83,92:55,50:32,24:NM_024692.4(CLIP4) c.133+23T>A,-:0.06,-:0.085499,- 2 29353754 . G . . NT END=29354123;NT GT ./. 2 29354264 . G . . NT END=29355017;NT GT ./. 2 29355112 . G . . NT END=29356520;NT GT ./. 2 29355303 rs4666167 C T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1883,T/0.8117;PC=0.001;Gene=CLIP4/NM_001287528.1/0;CC=c.367+192C>T;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.367+192C>T;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.367+192C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:200:23.32:0.00:23.32:1.00:0.00:1.00:60:50.6:0:0:115:36:16:NM_024692.4(CLIP4) c.367+192C>T,NM_024692.4(CLIP4) c.367+192C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 2 29356669 rs3100232 A G 81 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.5849,G/0.4151;PC=0.557;Gene=CLIP4/NM_001287528.1/0;CC=c.516A>G;ProtCh=p.T172=;VC=Silent;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.516A>G;ProtCh=p.T172=;VC=Silent;Gene=CLIP4/NM_024692.5/1;CC=c.516A>G;ProtCh=p.T172=;VC=Silent;DM=CLIP4/Ank_2;DM=CLIP4/Ank_2;DM=CLIP4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:23:0:0:27,26:872,849:0.00,81.34:0.00,17.42:0.00,63.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,59.3:0,0:0,0:90,88:38,59:33,22:-,NM_024692.4(CLIP4) c.516A>G (p.(=)):-,0.42:-,0.468169 2 29356683 . G . . NT END=29358413;NT GT ./. 2 29356728 rs3768674 T C 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.764,C/0.236;Gene=CLIP4/NM_001287528.1/0;CC=c.529+46T>C;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.529+46T>C;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.529+46T>C;VC=Intron;DM=CLIP4/Ank_2;DM=CLIP4/Ank_2;DM=CLIP4/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:10:0:0:16,15:524,498:50.70,0.00:8.06,0.00:42.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.6,3.5:0,0:0,0:128,85:21,66:15,24:NM_024692.4(CLIP4) c.529+46T>C,-:0.24,-:0.227699,- 2 29358533 . G . . NT END=29366574;NT GT ./. 2 29366646 rs35024908 C T 89 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.9698,T/0.03015;Gene=CLIP4/NM_001287528.1/0;CC=c.720C>T;ProtCh=p.A240=;VC=Silent;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.720C>T;ProtCh=p.A240=;VC=Silent;Gene=CLIP4/NM_024692.5/1;CC=c.720C>T;ProtCh=p.A240=;VC=Silent;DM=CLIP4/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:47:0:0:33,27:1012,942:0.00,89.17:0.00,64.91:0.00,24.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,39.3:0,0:0,0:73,66:75,81:40,24:-,NM_024692.4(CLIP4) c.720C>T (p.(=)):-,0.04:-,0.057589 2 29366812 . G . . NT END=29368097;NT GT ./. 2 29366830 rs3213947 A G 72 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5549,G/0.4451;Gene=CLIP4/NM_001287528.1/0;CC=c.885+19A>G;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.885+19A>G;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.885+19A>G;VC=Intron;DM=CLIP4/CAP_GLY;DM=CLIP4/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:17:0:0:21,22:700,743:0.00,71.83:0.00,17.07:0.00,54.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,39.7:0,0:0,0:105,100:46,49:26,18:-,NM_024692.4(CLIP4) c.885+19A>G:-,0.44:-,0.314547 2 29366875 rs3217572 C CACAG 34 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2553;Gene=CLIP4/NM_001287528.1/0;CC=c.885+65_885+68dupACAG;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.885+65_885+68dupACAG;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.885+65_885+68dupACAG;VC=Intron;DM=CLIP4/CAP_GLY;DM=CLIP4/CAP_GLY;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CACAG:38:2:12:0:26,12:848,388:0.00,34.23:0.00,1.52:0.00,32.71:0.00,1.00:0.00,0.61:0.00,1.00:60,60:11.1,36.8:0,0:0,0:128,109:22,41:21,14:-,NM_024692.4(CLIP4) c.885+64_885+65insACAG:-,0.6:-,NOT_FOUND 2 29368234 . G . . NT END=29375550;NT GT ./. 2 29375695 . G . . NT END=29379219;NT GT ./. 2 29375775 rs138408378 C CT 38 rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.8101,CT/0.1899;DB;DBA=NA;PAF=C/0.8101,CT/0.1899;NP=953;Gene=CLIP4/NM_001287528.1/0;CC=c.1165+89dupT;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.1165+89dupT;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.1165+89dupT;VC=Intron;DM=CLIP4/CAP_GLY;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:29:4:14:0:16,13:546,437:0.00,38.13:0.00,3.14:0.00,34.98:0.00,1.00:0.00,0.90:0.00,1.00:60,60:14.6,27.0:0,1:0,0:89,52:61,98:32,27:-,NM_024692.4(CLIP4) c.1165+81_1165+82insT:-,0.21:-,NOT_FOUND 2 29375902 rs3100239 T C 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6775,C/0.3225;Gene=CLIP4/NM_001287528.1/0;CC=c.1165+208T>C;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.1165+208T>C;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.1165+208T>C;VC=Intron;DM=CLIP4/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:C,T:10:0:0:0:6,4:166,131:16.53,0.00:0.00,0.00:16.53,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:45.2,0.0:0,0:0,0:125,70:25,79:23,6:NM_024692.4(CLIP4) c.1165+208T>C,-:0.34,-:NOT_FOUND,- 2 29375946 rs3100240 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7047,A/0.2953;Gene=CLIP4/NM_001287528.1/0;CC=c.1165+252G>A;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.1165+252G>A;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.1165+252G>A;VC=Intron;DM=CLIP4/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,G:8:0:0:0:4,4:109,111:10.41,0.00:0.00,0.00:10.41,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:76.2,0.0:0,0:0,0:122,114:28,35:20,6:NM_024692.4(CLIP4) c.1165+252G>A,-:0.32,-:NOT_FOUND,- 2 29379310 . G . . NT END=29380069;NT GT ./. 2 29380269 . G . . NT END=29383198;NT GT ./. 2 29380393 rs10192072 C G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5282,G/0.4718;PC=0.001;Gene=CLIP4/NM_001287528.1/0;CC=c.1399+180C>G;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.1399+180C>G;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.1399+180C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,G:16:0:0:0:11,5:362,169:0.00,14.97:0.00,0.00:0.00,14.97:0.00,0.88:0.00,0.00:0.00,0.88:60,60:20.1,49.8:0,0:0,0:91,129:60,21:27,18:-,NM_024692.4(CLIP4) c.1399+180C>G:-,0.46:-,NOT_FOUND 2 29383334 . G . . NT END=29386690;NT GT ./. 2 29383374 rs2305450 G A 292 nt VT=SNV;PN=A;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.1364,A/0.8636;Gene=CLIP4/NM_001287528.1/0;CC=c.1534+41G>A;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.1534+41G>A;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.1534+41G>A;VC=Intron;DM=CLIP4/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:79:37:0:0:79:2546:292.20:87.97:204.23:1.00:1.00:1.00:60:38.0:0:0:113:34:20:NM_024692.4(CLIP4) c.1534+41G>A,NM_024692.4(CLIP4) c.1534+41G>A:0.87,0.87:0.876903,0.876903 2 29386646 rs10200936 G C 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3431,C/0.6569;Gene=CLIP4/NM_001287528.1/0;CC=c.1535-51G>C;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.1535-51G>C;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.1535-51G>C;VC=Intron;DM=CLIP4/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:24:0:0:14,14:478,484:46.05,0.00:30.61,0.00:15.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,5.9:0,0:0,0:45,25:105,125:31,14:NM_024692.4(CLIP4) c.1535-51G>C,-:0.64,-:0.502384,- 2 29386821 . G . . NT END=29390341;NT GT ./. 2 29389396 rs55833657 GAC G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=29;PC=0.004;Gene=CLIP4/NM_001287528.1/0;CC=c.1659-915_1659-914delAC;VC=Intron;Gene=CLIP4/NR_109844.1/0;VC=NonCoding;Gene=CLIP4/NM_001287527.1/0;CC=c.1659-915_1659-914delAC;VC=Intron;Gene=CLIP4/NM_024692.5/1;CC=c.1659-915_1659-914delAC;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GAC,G:4:4:0:3:1,3:36,99:0.00,10.35:0.00,8.53:0.00,1.83:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,14.0:0,0:0,0:127,53:23,85:0,13:-,NM_024692.4(CLIP4) c.1659-945_1659-944delAC:-,NOT_FOUND:-,NOT_FOUND 2 29390407 . G . . NT END=29397238;NT GT ./. 2 29397580 . C . . NT END=29404437;NT GT ./. 2 29404760 . G . . NT END=29416089;NT GT ./. 2 29415792 rs1728828 G A 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.007188,A/0.9928;PC=0.001;Gene=ALK/NM_004304.4/1;CC=c.*298C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:160:18.38:18.38:0.00:1.00:1.00:0.00:60:52.0:0:0:35:115:20:NM_004304.4(ALK) c.*298C>T,NM_004304.4(ALK) c.*298C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 29416025 rs397706189 C CATTG 40 nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.6028,CATTG/0.3972;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6028,CATTG/0.3972;NP=107;Gene=ALK/NM_004304.4/1;CC=c.*61_*64dupCAAT;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CATTG:36:36:14:0:22,14:699,436:0.00,39.83:0.00,39.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.8,3.1:0,0:0,0:46,31:103,120:33,8:-,NM_004304.4(ALK) c.*61_*64dupCAAT:-,NOT_FOUND:-,NOT_FOUND 2 29416366 rs1881421 G C 462 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=G/0.4271,C/0.5729;Gene=ALK/NM_004304.4/1;CC=c.4587C>G;ProtCh=p.D1529E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:123:79:0:0:122,1:4044,8:462.02,0.05:227.18,0.05:234.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,56.0:0,0:0,0:83,96:65,54:36,0:NM_004304.4(ALK) c.4587C>G (p.Asp1529Glu),NM_004304.4(ALK) c.4587C>G (p.Asp1529Glu):0.57,0.57:0.433492,0.433492 2 29416481 rs1881420 T C 202 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.5849,C/0.4151;PC=1.000;Gene=ALK/NM_004304.4/1;CC=c.4472A>G;ProtCh=p.K1491R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:130:85:0:0:65,65:2100,2066:201.81,0.00:103.80,0.00:98.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.4,27.9:0,0:0,0:69,76:78,74:35,39:NM_004304.4(ALK) c.4472A>G (p.Lys1491Arg),-:0.4,-:0.223358,- 2 29416572 rs1670283 T C 472 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=T/0.007788,C/0.9922;NP=3483;Gene=ALK/NM_004304.4/1;CC=c.4381A>G;ProtCh=p.I1461V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:129:83:0:0:129:4111:472.31:237.35:234.96:1.00:1.00:1.00:60:55.1:0:0:78:72:38:NM_004304.4(ALK) c.4381A>G (p.Ile1461Val),NM_004304.4(ALK) c.4381A>G (p.Ile1461Val):0.99,0.99:0.990312,0.990312 2 29416615 rs56132472 G A 214 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=G/0.9409,A/0.05911;PC=0.510;Gene=ALK/NM_004304.4/1;CC=c.4338C>T;ProtCh=p.T1446=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:145:95:0:0:69,76:2251,2470:214.41,0.00:112.08,0.00:102.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.0,29.3:0,0:0,0:69,71:80,74:35,42:NM_004304.4(ALK) c.4338C>T (p.(=)),-:0.07,-:0.10326,- 2 29416789 . C . . NT END=29419635;NT GT ./. 2 29416794 rs17007646 G A 128 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.8391,A/0.1609;Gene=ALK/NM_004304.4/1;CC=c.4165-6C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:25:0:0:41,33:1309,1011:128.46,0.00:24.56,0.00:103.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,7.3:0,0:0,0:105,100:43,51:26,37:NM_004304.4(ALK) c.4165-6C>T,-:0.16,-:0.20252,- 2 29416946 rs12619135 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5855,C/0.4145;Gene=ALK/NM_004304.4/1;CC=c.4165-158A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:C,T:10:0:0:0:5,5:147,167:14.07,0.00:0.00,0.00:14.07,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:56.6,2.8:0,0:0,0:47,120:98,31:35,18:NM_004304.4(ALK) c.4165-158A>G,-:0.39,-:NOT_FOUND,- 2 29419413 rs1728826 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.01398,C/0.986;Gene=ALK/NM_004304.4/1;CC=c.4164+223A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:139:15.81:15.81:0.00:1.00:1.00:0.00:60:34.8:0:0:35:116:25:NM_004304.4(ALK) c.4164+223A>G,NM_004304.4(ALK) c.4164+223A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 29419727 . C . . NT END=29420407;NT GT ./. 2 29420315 rs3738870 C T 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.606,T/0.394;Gene=ALK/NM_004304.4/1;CC=c.4073+93G>A;VC=Intron;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:32:0:0:15,20:469,644:0.00,63.56:0.00,56.80:0.00,6.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.0,42.0:0,0:0,0:49,51:100,99:18,27:-,NM_004304.4(ALK) c.4073+93G>A:-,0.38:-,NOT_FOUND 2 29420543 . C . . NT END=29430036;NT GT ./. 2 29429888 rs4666178 G A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1781,A/0.8219;Gene=ALK/NM_004304.4/1;CC=c.3938+149C>T;VC=Intron;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:317:36.47:36.47:0.00:1.00:1.00:0.00:60:37.1:0:0:57:92:45:NM_004304.4(ALK) c.3938+149C>T,NM_004304.4(ALK) c.3938+149C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 2 29430139 . C . . NT END=29432651;NT GT ./. 2 29432745 . C . . NT END=29436849;NT GT ./. 2 29436948 . C . . NT END=29443571;NT GT ./. 2 29437182 rs1630306 T C 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.392,C/0.608;Gene=ALK/NM_004304.4/1;CC=c.3646-235A>G;VC=Intron;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:C,T:4:0:0:0:3,1:79,25:8.32,0.00:0.00,0.00:8.32,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:61.7,138.0:0,0:0,0:77,120:74,31:5,0:NM_004304.4(ALK) c.3646-235A>G,-:0.6,-:NOT_FOUND,- 2 29443373 rs4665446 G A 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.5863,A/0.4137;Gene=ALK/NM_004304.4/1;CC=c.3645+199C>T;VC=Intron;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:10,11:290,333:27.43,0.00:27.43,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.2,9.6:0,0:0,0:61,37:90,114:37,20:NM_004304.4(ALK) c.3645+199C>T,-:0.39,-:NOT_FOUND,- 2 29443702 . C . . NT END=29445209;NT GT ./. 2 29445275 . C . . NT END=29445382;NT GT ./. 2 29445458 rs3795850 G T 137 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.5841,T/0.4159;Gene=ALK/NM_004304.4/1;CC=c.3375C>A;ProtCh=p.G1125=;VC=Silent;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:94:48:0:0:48,46:1564,1438:0.00,137.43:0.00,43.58:0.00,93.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,43.5:0,0:0,0:100,91:45,51:21,31:-,NM_004304.4(ALK) c.3375C>A (p.(=)):-,0.4:-,0.221436 2 29445474 . C . . NT END=29446207;NT GT ./. 2 29445982 rs11689436 G C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.744,C/0.256;Gene=ALK/NM_004304.4/1;CC=c.3359+226C>G;VC=Intron;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:C,G:5:5:0:0:4,1:135,10:14.38,0.00:14.38,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:47.8,28.0:0,0:0,0:36,54:115,96:14,0:NM_004304.4(ALK) c.3359+226C>G,-:0.27,-:NOT_FOUND,- 2 29446128 rs12989497 A G 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.9343,G/0.06569;Gene=ALK/NM_004304.4/1;CC=c.3359+80T>C;VC=Intron;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:31:0:0:21,14:630,445:0.00,40.98:0.00,27.47:0.00,13.51:0.00,1.00:0.00,1.00:0.00,0.46:60,60:30.8,44.6:0,0:0,0:55,32:96,118:26,17:-,NM_004304.4(ALK) c.3359+80T>C:-,0.08:-,NOT_FOUND 2 29446184 rs2276550 C G 85 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.5793,G/0.4207,T/.;Gene=ALK/NM_004304.4/1;CC=c.3359+24G>C;VC=Intron;DM=ALK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:54:48:0:0:24,30:769,867:0.00,84.77:0.00,69.75:0.00,15.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.9,39.8:0,0:0,0:40,47:110,97:26,35:-,NM_004304.4(ALK) c.3359+24G>C:-,0.4:-,0.223435 2 29446395 . C . . NT END=29448326;NT GT ./. 2 29448432 . C . . NT END=29449787;NT GT ./. 2 29449526 rs1881419 C T 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6112,T/0.3888;PC=0.002;Gene=ALK/NM_004304.4/1;CC=c.3067+262G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:C,G,T:11:11:0:0:5,1,5:176,10,121:0.00,0.32,11.43:0.00,0.32,11.43:0.00,0.00,0.00:0.00,0.00,0.93:0.00,0.00,0.93:0.00,0.00,0.00:60,60,60:0.0,10.0,49.8:0,0,0:0,0,0:21,8,17:130,143,134:6,0,11:-,NM_004304.4(ALK) c.3067+262G>A:-,0.38:-,NOT_FOUND 2 29449819 rs2293563 C T 162 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=C/0.8301,T/0.1699;Gene=ALK/NM_004304.4/1;CC=c.3036G>A;ProtCh=p.T1012=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:122:98:0:0:72,50:2218,1736:0.00,161.65:0.00,100.14:0.00,61.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,40.0:0,0:0,0:84,67:65,72:35,21:-,NM_004304.4(ALK) c.3036G>A (p.(=)):-,0.18:-,0.189605 2 29449941 . C . . NT END=29450439;NT GT ./. 2 29450539 . C . . NT END=29451749;NT GT ./. 2 29450684 rs35787487 G A 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.8624,A/0.1376;PC=0.986;Gene=ALK/NM_004304.4/1;CC=c.2816-146C>T;VC=Intron;DM=ALK/Gly_rich GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:11,7:339,202:33.91,0.00:0.00,0.00:33.91,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.5,17.0:0,0:0,0:143,83:8,68:5,50:NM_004304.4(ALK) c.2816-146C>T,-:0.12,-:NOT_FOUND,- 2 29451933 . C . . NT END=29455169;NT GT ./. 2 29455016 rs12714270 C T 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5108,T/0.4892;Gene=ALK/NM_004304.4/1;CC=c.2632+154G>A;VC=Intron;DM=ALK/Gly_rich GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:26:0:0:13,13:429,414:0.00,39.77:0.00,39.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.4,35.2:0,0:0,0:50,40:101,111:44,33:-,NM_004304.4(ALK) c.2632+154G>A:-,0.5:-,NOT_FOUND 2 29455267 rs2256740 A G 175 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.5,G/0.5;PC=0.328;Gene=ALK/NM_004304.4/1;CC=c.2535T>C;ProtCh=p.G845=;VC=Silent;DM=ALK/Gly_rich GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:113:75:0:0:56,1,56:1738,9,1817:0.00,-0.15,174.57:0.00,-0.11,70.66:0.00,-0.04,103.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.1,103.0,35.6:0,0,0:0,0,0:96,38,83:50,112,66:42,0,33:-,NM_004304.4(ALK) c.2535T>C (p.(=)):-,0.51:-,0.661387 2 29455315 . C . . NT END=29456430;NT GT ./. 2 29456563 . C . . NT END=29462545;NT GT ./. 2 29462697 . C . . NT END=29473970;NT GT ./. 2 29474134 . C . . NT END=29497964;NT GT ./. 2 29498094 . C . . NT END=29498267;NT GT ./. 2 29498210 rs4589708 A G 231 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.1486,G/0.8514;PC=0.001;Gene=ALK/NM_004304.4/1;CC=c.1912+58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G:64:38:0:0:64:2009:231.27:115.53:115.74:1.00:1.00:1.00:60:41.8:0:0:75:76:44:NM_004304.4(ALK) c.1912+58T>C,NM_004304.4(ALK) c.1912+58T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 29498363 . C . . NT END=29519753;NT GT ./. 2 29498568 rs114523409 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9958,T/0.004193;NP=6;Gene=ALK/NM_004304.4/1;CC=c.1818-206G>A;VC=Intron;DM=ALK/MAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,T:9:0:0:0:4,5:115,162:0.00,15.90:0.00,0.00:0.00,15.90:0.00,0.96:0.00,0.00:0.00,0.96:60,60:11.2,43.8:0,0:0,0:62,135:88,16:37,11:-,NM_004304.4(ALK) c.1818-206G>A:-,0.01:-,NOT_FOUND 2 29519622 rs2272409 C T 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.2953,T/0.7047;Gene=ALK/NM_004304.4/1;CC=c.1817+132G>A;VC=Intron;DM=ALK/MAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:621:72.48:72.48:0.00:1.00:1.00:0.00:60:42.7:0:0:50:91:31:NM_004304.4(ALK) c.1817+132G>A,NM_004304.4(ALK) c.1817+132G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 29519924 . C . . NT END=29541169;NT GT ./. 2 29520085 rs4666194 G A 63 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.1306,A/0.8694;Gene=ALK/NM_004304.4/1;CC=c.1648-162C>T;VC=Intron;DM=ALK/MAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:552:63.31:0.00:63.31:1.00:0.00:1.00:60:44.7:0:0:113:38:20:NM_004304.4(ALK) c.1648-162C>T,NM_004304.4(ALK) c.1648-162C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 29541104 rs2276549 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4153,T/0.5847;Gene=ALK/NM_004304.4/1;CC=c.1647+66G>A;VC=Intron;DM=ALK/MAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,T:10:8:0:0:4,6:141,154:0.00,15.30:0.00,10.66:0.00,4.64:0.00,0.99:0.00,1.00:0.00,0.97:60,60:0.0,36.2:0,0:0,0:41,36:109,114:9,21:-,NM_004304.4(ALK) c.1647+66G>A:-,0.6:-,NOT_FOUND 2 29541271 . C . . NT END=29543616;NT GT ./. 2 29543663 rs2293564 T C 431 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.2234,C/0.7766,G/.;PC=0.007;Gene=ALK/NM_004304.4/1;CC=c.1500A>G;ProtCh=p.Q500=;VC=Silent;DM=ALK/MAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:114:85:0:0:114:3766:430.78:248.85:181.92:1.00:1.00:1.00:60:39.4:0:0:59:91:31:NM_004304.4(ALK) c.1500A>G (p.(=)),NM_004304.4(ALK) c.1500A>G (p.(=)):0.8,0.8:0.790943,0.790943 2 29543749 . C . . NT END=29551215;NT GT ./. 2 29551348 . C . . NT END=29606597;NT GT ./. 2 29606726 . C . . NT END=29754780;NT GT ./. 2 29754983 . C . . NT END=29917715;NT GT ./. 2 29917881 . C . . NT END=29940443;NT GT ./. 2 29917940 rs2256376 C G 213 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.3924,G/0.6076;PC=0.002;Gene=ALK/NM_004304.4/1;CC=c.788-60G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:G:56:22:0:0:56:1869:213.48:49.65:163.83:1.00:1.00:1.00:60:38.8:0:0:93:54:30:NM_004304.4(ALK) c.788-60G>C,NM_004304.4(ALK) c.788-60G>C:0.65,0.65:NOT_FOUND,NOT_FOUND 2 29933365 rs71403672 C CGT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=20;NP=3;NP=5;NP=53;PC=0.006;Gene=ALK/NM_004304.4/1;CC=c.787+7078_787+7079insAC;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,CGT:5:3:3:0:2,3:20,101:0.00,10.13:0.00,5.00:0.00,5.14:0.00,0.78:0.00,0.94:0.00,0.94:60,70:23.0,0.0:0,0:0,0:102,101:48,50:38,13:-,NM_004304.4(ALK) c.787+7078_787+7079insAC:-,NOT_FOUND:-,NOT_FOUND 2 29940529 rs2246745 A T 261 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.4107,C/.,T/0.5893;PC=1.000;Gene=ALK/NM_004304.4/1;CC=c.702T>A;ProtCh=p.P234=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:72:49:0:0:1,71:12,2295:0.00,261.32:0.00,116.82:0.00,144.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:73.0,39.8:0,0:0,0:131,79:19,71:0,32:NM_004304.4(ALK) c.702T>A (p.(=)),NM_004304.4(ALK) c.702T>A (p.(=)):0.64,0.64:0.627018,0.627018 2 29940564 . C . . NT END=30142858;NT GT ./. 2 29940820 rs2270353 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4221,T/0.5779;PC=0.994;Gene=ALK/NM_004304.4/1;CC=c.668-257G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:117:14.04:0.00:14.04:1.00:0.00:1.00:60:47.8:0:0:136:14:8:NM_004304.4(ALK) c.668-257G>A,NM_004304.4(ALK) c.668-257G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 30067725 rs59519920 G GCACACA 11 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;NP=37;Gene=ALK/NM_004304.4/1;CC=c.667+75133_667+75134insTGTGTG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GCACACA:3:4:5:0:3:161:10.56:7.21:3.35:0.78:0.97:0.73:60:8.3:2:0:52:99:14:NM_004304.4(ALK) c.667+75133_667+75134insTGTGTG,NM_004304.4(ALK) c.667+75133_667+75134insTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 30143499 rs4358080 G C 424 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.1062,C/0.8938;PC=0.871;Gene=ALK/NM_004304.4/1;CC=c.27C>G;ProtCh=p.L9=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:110:60:0:0:110:3713:423.58:149.52:274.07:1.00:1.00:1.00:60:42.5:0:0:92:57:31:NM_004304.4(ALK) c.27C>G (p.(=)),NM_004304.4(ALK) c.27C>G (p.(=)):0.9,0.9:0.909286,0.909286 2 30143526 . C . . NT END=30379517;NT GT ./. 2 30169781 . CGTGTGTGTGTGTGTGTGTGTGTGTGTGT C 6 nt VT=DEL;SST=Single;DP=5;PC=0.426;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CGTGTGTGTGTGTGTGTGTGTGTGTGTGT,C:4:4:0:3:2,2:64,99:0.00,6.31:0.00,4.85:0.00,1.47:0.00,0.46:0.00,0.87:0.00,0.70:60,60:14.0,16.0:0,1:0,0:114,49:24,101:2,7:-,chr2 g.30169782_30169809delGTGTGTGTGTGTGTGTGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 30230885 rs71403679 A AGTGTGT 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;NP=55;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,AGTGTGT:4:4:2:0:2,2:67,67:0.00,6.45:0.00,3.23:0.00,3.23:0.00,0.51:0.00,0.51:0.00,0.51:60,60:4.0,31.5:0,0:0,0:19,50:110,80:16,26:-,chr2 g.30230885_30230886insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 30230965 rs13007417 C G 14 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2734,G/0.7266 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G:5:2:0:0:1,4:34,136:0.00,14.42:0.00,1.44:0.00,12.98:0.00,0.96:0.00,0.97:0.00,0.96:60,60:54.0,46.8:0,0:0,0:112,90:39,59:0,18:-,chr2 g.30230964C>G (intergenic):-,0.7:-,NOT_FOUND 2 30379362 rs72785870 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9213,G/0.07867;PC=0.001;Gene=YPEL5/NM_001127399.1/0;CC=c.-24-132A>G;VC=Intron;Gene=YPEL5/NM_001127400.1/0;CC=c.-24-132A>G;VC=Intron;Gene=YPEL5/NM_001127401.1/1;CC=c.-24-132A>G;VC=Intron;Gene=YPEL5/NM_016061.2/0;CC=c.-24-132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:11:11:0:0:4,7:122,237:0.00,23.91:0.00,23.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,39.7:0,0:0,0:33,28:117,123:26,23:-,NM_001127401.1(YPEL5) c.-24-132A>G:-,0.08:-,NOT_FOUND 2 30379659 . G . . NT END=30381484;NT GT ./. 2 30381710 . A . . NT END=30454604;NT GT ./. 2 30454631 . G . . NT END=30457270;NT GT ./. 2 30457374 . G . . NT END=30480298;NT GT ./. 2 30480027 rs11679137 G A 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8393,A/0.1607;Gene=LBH/NM_030915.3/1;CC=c.130-272G>A;VC=Intron;DM=LBH/Lbh;DM=LBH/Lbh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:80.5:0:0:55:95:23:NM_030915.3(LBH) c.130-272G>A,NM_030915.3(LBH) c.130-272G>A:0.18,0.18:NOT_FOUND,NOT_FOUND 2 30480488 . A . . NT END=30682478;NT GT ./. 2 30495166 rs4951987 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8377,G/0.1623 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:3:0:0:1,3:34,104:0.00,10.85:0.00,5.43:0.00,5.43:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,34.7:0,0:0,0:82,77:68,62:0,12:-,chr2 g.30495165A>G (intergenic):-,0.18:-,NOT_FOUND 2 30647913 rs55846001 A G 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=172 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:2:0:0:1,3:34,108:0.00,11.25:0.00,1.37:0.00,9.88:0.00,0.85:0.00,0.95:0.00,0.99:60,60:11.0,99.0:0,1:0,0:92,88:45,57:0,12:-,chr2 g.30647912A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 30647915 rs62139580 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:4:2:0:0:2,2:70,69:0.00,6.65:0.00,-0.45:0.00,7.10:0.00,0.51:0.00,0.79:0.00,0.89:60,60:67.0,112.5:0,1:0,0:70,96:69,54:23,6:-,chr2 g.30647914A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 30682589 . G . . NT END=30748452;NT GT ./. 2 30748622 . G . . NT END=30755981;NT GT ./. 2 30756181 . G . . NT END=30785011;NT GT ./. 2 30785159 . G . . NT END=30790925;NT GT ./. 2 30791043 . G . . NT END=30862982;NT GT ./. 2 30863555 . A . . NT END=30954209;NT GT ./. 2 30954266 . C . . NT END=30955303;NT GT ./. 2 30955118 rs35481680 G T 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.7827,T/0.2173;Gene=CAPN13/NM_144575.2/1;CC=c.1927+186C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:31:31:0:0:17,14:461,341:0.00,31.44:0.00,31.44:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.6,90.1:0,0:0,0:61,70:85,81:32,28:-,NM_144575.2(CAPN13) c.1927+186C>A:-,0.23:-,NOT_FOUND 2 30955154 rs2609911 A G 58 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.4583,G/0.5417;Gene=CAPN13/NM_144575.2/1;CC=c.1927+150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:39:39:0:0:19,19,1:540,603,8:0.00,57.93,-0.07:0.00,57.93,-0.07:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:12.3,80.3,199.0:0,0,0:0,0,0:81,84,87:70,67,64:40,51,0:-,NM_144575.2(CAPN13) c.1927+150T>C:-,0.52:-,NOT_FOUND 2 30955176 rs2593433 A G 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5713,G/0.4287;Gene=CAPN13/NM_144575.2/1;CC=c.1927+128T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:40:0:0:21,19:710,514:0.00,48.31:0.00,48.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.7,81.3:0,0:0,0:81,50:70,101:45,46:-,NM_144575.2(CAPN13) c.1927+128T>C:-,0.42:-,NOT_FOUND 2 30955433 . C . . NT END=30957314;NT GT ./. 2 30955528 rs2276567 C A 198 nt VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.2095,A/0.7905;Gene=CAPN13/NM_144575.2/1;CC=c.1799-96G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A,T:57:18:0:0:56,1:1719,12:198.03,0.25:36.21,0.25:161.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,87.0:0,0:0,0:108,114:38,37:29,0:NM_144575.2(CAPN13) c.1799-96G>T,NM_144575.2(CAPN13) c.1799-96G>T:0.8,0.8:NOT_FOUND,NOT_FOUND 2 30957391 . C . . NT END=30959368;NT GT ./. 2 30959262 rs509380 G T 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3257,T/0.6743;Gene=CAPN13/NM_144575.2/1;CC=c.1722+107C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:20:0:0:20:635:73.03:67.37:5.67:1.00:1.00:1.00:60:33.6:0:0:33:118:25:NM_144575.2(CAPN13) c.1722+107C>A,NM_144575.2(CAPN13) c.1722+107C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 2 30959438 . C . . NT END=30961100;NT GT ./. 2 30960832 rs71831494 GACACAC G 9 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=69;Gene=CAPN13/NM_144575.2/1;CC=c.1653+263_1653+268delGTGTGT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:GACACAC,G:5:6:0:5:2,3:47,157:0.00,8.84:0.00,10.96:0.00,-2.12:0.00,0.69:0.00,0.95:0.00,0.83:60,60:6.0,8.7:0,2:0,0:109,72:36,79:0,29:-,NM_144575.2(CAPN13) c.1653+263_1653+268delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 30961160 . C . . NT END=30961265;NT GT ./. 2 30961324 . C . . NT END=30964239;NT GT ./. 2 30961400 rs35032002 AG A 41 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=AG/0.8932,A/0.1068;NP=533;Gene=CAPN13/NM_144575.2/1;CC=c.1537-78delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:26:5:0:14:12,14:409,417:0.00,40.57:0.00,5.92:0.00,34.65:0.00,1.00:0.00,0.98:0.00,1.00:60,60:11.9,12.5:0,0:0,0:99,101:52,49:28,18:-,NM_144575.2(CAPN13) c.1537-78delC:-,0.14:-,NOT_FOUND 2 30964831 . C . . NT END=30965191;NT GT ./. 2 30965226 . C . . NT END=30966248;NT GT ./. 2 30966446 . C . . NT END=30968588;NT GT ./. 2 30966687 rs2253464 G A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.752,A/0.248;Gene=CAPN13/NM_144575.2/1;CC=c.1246-239C>T;VC=Intron;DM=CAPN13/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:59.2:0:0:113:38:13:NM_144575.2(CAPN13) c.1249-242C>T,NM_144575.2(CAPN13) c.1249-242C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 2 30968601 . C . . NT END=30973968;NT GT ./. 2 30968929 rs561956 G C 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7642,C/0.2358;PC=0.059;Gene=CAPN13/NM_144575.2/1;CC=c.1238-805C>G;VC=Intron;DM=CAPN13/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:38.2:0:0:124:25:13:NM_144575.2(CAPN13) c.1237-329C>G,NM_144575.2(CAPN13) c.1237-329C>G:0.24,0.24:NOT_FOUND,NOT_FOUND 2 30974118 . C . . NT END=30975918;NT GT ./. 2 30976058 rs2926304 C T 262 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.6162,T/0.3838;PC=0.888;Gene=CAPN13/NM_144575.2/1;CC=c.948G>A;ProtCh=p.S316=;VC=Silent;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:70:38:0:0:70:2286:261.88:89.82:172.06:1.00:1.00:1.00:60:36.4:0:0:78:71:38:NM_144575.2(CAPN13) c.948G>A (p.(=)),NM_144575.2(CAPN13) c.948G>A (p.(=)):0.39,0.39:0.328394,0.328394 2 30976065 . C . . NT END=30977155;NT GT ./. 2 30977073 rs485100 G A 124 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.1681,A/0.8319;Gene=CAPN13/NM_144575.2/1;CC=c.941+83C>T;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:33:0:0:34:1083:124.45:114.70:9.74:1.00:1.00:1.00:60:42.0:0:0:30:111:23:NM_144575.2(CAPN13) c.941+83C>T,NM_144575.2(CAPN13) c.941+83C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 2 30977231 . C . . NT END=30980911;NT GT ./. 2 30977354 rs482384 C T 68 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.1685,T/0.8315;Gene=CAPN13/NM_144575.2/1;CC=c.867-124G>A;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:0:0:0:20:587:68.11:0.00:68.11:1.00:0.00:1.00:60:47.7:0:0:102:49:30:NM_144575.2(CAPN13) c.867-124G>A,NM_144575.2(CAPN13) c.867-124G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 30980940 rs508405 C T 228 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.2099,T/0.7901;Gene=CAPN13/NM_144575.2/1;CC=c.838G>A;ProtCh=p.A280T;VC=Missense;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:G,T:63:49:0:0:1,62:15,1988:0.39,227.86:0.39,133.99:0.00,93.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:70.0,37.6:0,0:0,0:22,55:128,84:0,31:NM_144575.2(CAPN13) c.838G>A (p.Ala280Thr),NM_144575.2(CAPN13) c.838G>A (p.Ala280Thr):0.77,0.77:0.75555,0.75555 2 30981004 . C . . NT END=30985947;NT GT ./. 2 30985774 rs499476 G C 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2222,C/0.7778;Gene=CAPN13/NM_144575.2/1;CC=c.774+174C>G;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:C,G:11:11:0:0:5,6:175,171:16.60,0.00:16.60,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:48.4,12.2:0,0:0,0:99,14:51,135:28,9:NM_144575.2(CAPN13) c.774+174C>G,-:0.8,-:NOT_FOUND,- 2 30985829 rs498686 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=CAPN13/NM_144575.2/1;CC=c.774+119G>A;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:C,T:18:17:0:0:10,8:322,177:0.00,16.09:0.00,13.17:0.00,2.92:0.00,0.99:0.00,1.00:0.00,0.63:60,60:7.7,39.5:0,0:0,0:43,28:108,122:26,20:-,NM_144575.2(CAPN13) c.774+119G>A:-,0.83:-,NOT_FOUND 2 30986023 . C . . NT END=30986997;NT GT ./. 2 30986853 rs17396613 A G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.9673,G/0.03275;Gene=CAPN13/NM_144575.2/1;CC=c.699+145T>C;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:24:0:0:11,13:333,440:0.00,43.01:0.00,43.01:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.3,53.9:0,0:0,0:65,62:86,88:22,42:-,NM_144575.2(CAPN13) c.699+145T>C:-,0.04:-,NOT_FOUND 2 30986989 rs579016 G T 250 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.1286,T/0.8714;Gene=CAPN13/NM_144575.2/1;CC=c.699+9C>A;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:C,T:70:60:0:0:1,69:10,2181:0.13,250.42:0.13,170.30:0.00,80.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:126.0,37.8:0,0:0,0:105,48:42,94:0,33:NM_144575.2(CAPN13) c.699+9C>A,NM_144575.2(CAPN13) c.699+9C>A:0.88,0.88:0.87717,0.87717 2 30987173 . C . . NT END=30993178;NT GT ./. 2 30993316 . C . . NT END=30998795;NT GT ./. 2 30998912 . C . . NT END=31000432;NT GT ./. 2 30999017 rs145800419 T A 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9904,A/0.009585;PC=0.458;Gene=CAPN13/NM_144575.2/1;CC=c.272-106A>T;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:2:0:0:16,10:465,300:46.60,0.00:3.62,0.00:42.99,0.00:1.00,0.00:0.88,0.00:1.00,0.00:60,60:40.9,9.7:0,0:0,0:107,140:39,10:22,6:NM_144575.2(CAPN13) c.272-106A>T,-:0.01,-:NOT_FOUND,- 2 30999023 rs5830184 AT A 47 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=AT/0.5767,A/0.4233;DB;DBA=NA;PAF=AT/0.5767,A/0.4233;NP=771;PC=0.001;Gene=CAPN13/NM_144575.2/1;CC=c.272-113delA;VC=Intron;DM=CAPN13/Peptidase_C2;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:22:3:0:15:7,15:221,462:0.00,47.38:0.00,4.92:0.00,42.46:0.00,1.00:0.00,0.97:0.00,1.00:60,60:23.4,28.8:0,0:0,0:144,94:7,53:2,15:-,NM_144575.2(CAPN13) c.272-113delA:-,NOT_FOUND:-,NOT_FOUND 2 31000243 rs10179981 T G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9457,G/0.05431;PC=0.002;Gene=CAPN13/NM_144575.2/1;CC=c.271+190A>C;VC=Intron;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:G,T:12:12:0:0:4,8:91,259:7.66,0.00:7.66,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:60,60:116.2,8.0:0,0:0,0:44,56:106,94:2,17:NM_144575.2(CAPN13) c.271+190A>C,-:0.05,-:NOT_FOUND,- 2 31000506 . C . . NT END=31009993;NT GT ./. 2 31009872 rs148067563 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.984,C/0.01597;Gene=CAPN13/NM_144575.2/1;CC=c.198+122A>G;VC=Intron;DM=CAPN13/Peptidase_C2;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:C,T:18:18:0:0:13,5:439,164:45.48,0.00:45.48,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:82.4,53.6:0,0:0,0:52,44:99,107:14,32:NM_144575.2(CAPN13) c.198+122A>G,-:0.02,-:NOT_FOUND,- 2 31009876 rs1915126 T C 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.05591,C/0.9441;Gene=CAPN13/NM_144575.2/1;CC=c.198+118A>G;VC=Intron;DM=CAPN13/Peptidase_C2;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:20:0:0:20:634:72.94:72.94:0.00:1.00:1.00:0.00:60:73.8:0:0:48:102:22:NM_144575.2(CAPN13) c.198+118A>G,NM_144575.2(CAPN13) c.198+118A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 31009977 rs1915125 G C 233 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.08407,A/.,C/0.9159;Gene=CAPN13/NM_144575.2/1;CC=c.198+17C>G;VC=Intron;DM=CAPN13/Peptidase_C2;DM=CAPN13/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:C:65:59:0:0:65:2024:233.33:180.17:53.16:1.00:1.00:1.00:60:42.5:0:0:59:92:35:NM_144575.2(CAPN13) c.198+17C>G,NM_144575.2(CAPN13) c.198+17C>G:0.91,0.91:0.869952,0.869952 2 31010224 . C . . NT END=31133766;NT GT ./. 2 31133926 . C . . NT END=31135088;NT GT ./. 2 31135209 . C . . NT END=31146984;NT GT ./. 2 31147130 . C . . NT END=31147605;NT GT ./. 2 31147690 . C . . NT END=31152260;NT GT ./. 2 31152354 . C . . NT END=31154933;NT GT ./. 2 31155061 . C . . NT END=31165066;NT GT ./. 2 31165171 . C . . NT END=31167723;NT GT ./. 2 31167809 . C . . NT END=31168648;NT GT ./. 2 31168737 . C . . NT END=31178483;NT GT ./. 2 31178222 rs2303327 T A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7288,A/0.2712;Gene=GALNT14/NM_001253827.1/1;CC=c.594+262A>T;VC=Intron;Gene=GALNT14/NM_001253826.1/0;CC=c.669+262A>T;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.654+262A>T;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding;DM=GALNT14/Glycos_transf_2;DM=GALNT14/Glycos_transf_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:A,T:13:13:0:0:7,6:221,171:21.57,0.00:21.57,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:54.0,9.3:0,0:0,0:39,19:112,131:26,12:NM_001253826.1(GALNT14) c.669+262A>T,-:0.29,-:NOT_FOUND,- 2 31178606 . C . . NT END=31178777;NT GT ./. 2 31178844 . C . . NT END=31181262;NT GT ./. 2 31181331 . C . . NT END=31189069;NT GT ./. 2 31188957 rs889896 C T 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.02376,T/0.9762;Gene=GALNT14/NM_001253827.1/1;CC=c.338+113G>A;VC=Intron;Gene=GALNT14/NM_001253826.1/0;CC=c.413+113G>A;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.398+113G>A;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding;DM=GALNT14/Glycos_transf_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:19:0:0:19:587:67.67:67.67:0.00:1.00:1.00:0.00:60:38.2:0:0:46:104:38:NM_001253826.1(GALNT14) c.413+113G>A,NM_001253826.1(GALNT14) c.413+113G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 31189169 . C . . NT END=31215703;NT GT ./. 2 31189236 rs2303324 G A 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.8149,A/0.1851;Gene=GALNT14/NM_001253827.1/1;CC=c.240-68C>T;VC=Intron;Gene=GALNT14/NM_001253826.1/0;CC=c.315-68C>T;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.300-68C>T;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:10:0:0:15,14:463,464:44.73,0.00:11.42,0.00:33.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,8.9:0,0:0,0:113,99:29,52:17,29:NM_001253826.1(GALNT14) c.315-68C>T,-:0.2,-:NOT_FOUND,- 2 31189304 rs2303323 T C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8139,C/0.1861;Gene=GALNT14/NM_001253827.1/1;CC=c.240-136A>G;VC=Intron;Gene=GALNT14/NM_001253826.1/0;CC=c.315-136A>G;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.300-136A>G;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,T:12:0:0:0:5,7:161,223:14.95,0.00:0.00,0.00:14.95,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:94.6,8.7:0,0:0,0:119,133:32,18:29,10:NM_001253826.1(GALNT14) c.315-136A>G,-:0.2,-:NOT_FOUND,- 2 31189401 rs2303321 A G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8135,G/0.1865;PC=0.516;Gene=GALNT14/NM_001253827.1/1;CC=c.240-233T>C;VC=Intron;Gene=GALNT14/NM_001253826.1/0;CC=c.315-233T>C;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.300-233T>C;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:0:0:0:2,3:70,90:0.00,8.97:0.00,0.00:0.00,8.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:21.0,80.0:0,0:0,0:114,18:37,131:22,7:-,NM_001253826.1(GALNT14) c.315-233T>C:-,0.2:-,NOT_FOUND 2 31215874 . C . . NT END=31301799;NT GT ./. 2 31301933 . C . . NT END=31348019;NT GT ./. 2 31348120 . C . . NT END=31352142;NT GT ./. 2 31348335 rs4020219 ACC A 22 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=ACC/0.2246,A/0.7754;DB;DBA=NA;PAF=ACC/0.2246,A/0.7754;NP=16;Gene=GALNT14/NM_001253827.1/1;CC=c.-116-218_-116-217delGG;VC=Intron;Gene=GALNT14/NM_001253826.1/0;CC=c.130-218_130-217delGG;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.129+12487_129+12488delGG;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:ACC,A:8:0:0:7:1,7:28,204:0.00,22.43:0.00,0.00:0.00,22.43:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,9.7:0,0:0,0:137,118:5,31:0,9:-,NM_001253826.1(GALNT14) c.130-218_130-217delGG:-,0.75:-,NOT_FOUND 2 31352176 rs13412639 A T 76 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.7226,T/0.2774;Gene=GALNT14/NM_001253827.1/1;CC=c.-150T>A;VC=5UTR;Gene=GALNT14/NM_001253826.1/0;CC=c.130-4057T>A;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.129+8648T>A;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:44:0:0:21,25:690,779:0.00,75.99:0.00,68.15:0.00,7.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,41.6:0,0:0,0:59,34:92,115:36,16:-,NM_001253826.1(GALNT14) c.130-4057T>A:-,0.26:-,NOT_FOUND 2 31352507 . G . . NT END=31360823;NT GT ./. 2 31352655 rs57550849 G A 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9423,A/0.05771;PC=0.008;Gene=GALNT14/NM_001253826.1/0;CC=c.130-4536C>T;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.129+8169C>T;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:10,6:304,210:30.53,0.00:0.00,0.00:30.53,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:84.6,31.0:0,0:0,0:95,109:48,38:35,28:NM_001253826.1(GALNT14) c.130-4536C>T,-:0.05,-:NOT_FOUND,- 2 31352656 rs60157549 C A 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9431,A/0.05691;Gene=GALNT14/NM_001253826.1/0;CC=c.130-4537G>T;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.129+8168G>T;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:0:0:0:10,7:295,225:29.26,0.00:0.00,0.00:29.26,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:84.6,26.6:0,0:0,0:96,89:47,62:35,48:NM_001253826.1(GALNT14) c.130-4537G>T,-:0.05,-:NOT_FOUND,- 2 31360680 rs2008535 T A 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.7037,A/0.2963;Gene=GALNT14/NM_001253826.1/0;CC=c.129+144A>T;VC=Intron;Gene=GALNT14/NM_024572.3/0;CC=c.129+144A>T;VC=Intron;Gene=GALNT14/NR_045602.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:29:29:0:0:18,11:562,336:56.41,0.00:54.47,0.00:1.93,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:35.9,12.9:0,0:0,0:47,34:102,116:26,24:NM_001253826.1(GALNT14) c.129+144A>T,-:0.3,-:NOT_FOUND,- 2 31360953 . G . . NT END=31397546;NT GT ./. 2 31390894 rs57395766 G GACACACAC 16 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=31;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GACACACAC:6:6:5:0:1,5:36,144:0.00,15.60:0.00,14.51:0.00,1.10:0.00,0.99:0.00,0.99:0.00,0.89:60,60:0.0,39.6:0,0:0,0:85,35:29,96:0,9:-,chr2 g.31390894_31390895insACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 31397332 rs12992405 A C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5096,C/0.4904;PC=0.008;Gene=CAPN14/NM_001145122.1/1;CC=c.*215T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,C:8:8:0:0:2,6:67,176:0.00,18.47:0.00,18.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,33.8:0,0:0,0:47,43:103,107:6,40:-,NM_001145122.1(CAPN14) c.*215T>G:-,0.48:-,NOT_FOUND 2 31397574 . C . . NT END=31399452;NT GT ./. 2 31397696 rs10168043 G C 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.6342,C/0.3658;PC=0.272;Gene=CAPN14/NM_001145122.1/1;CC=c.2029-123C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:2:0:0:15,13:492,449:47.96,0.00:1.64,0.00:46.32,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:52.5,5.5:0,0:0,0:111,136:39,15:25,12:NM_001145122.1(CAPN14) c.2029-123C>G,-:0.34,-:NOT_FOUND,- 2 31397727 rs10180369 T C 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6258,C/0.3742;PC=1.000;Gene=CAPN14/NM_001145122.1/1;CC=c.2029-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,T:15:0:0:0:9,6:293,183:29.21,0.00:0.00,0.00:29.21,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.2,6.8:0,0:0,0:95,101:54,49:24,13:NM_001145122.1(CAPN14) c.2029-154A>G,-:0.34,-:NOT_FOUND,- 2 31399358 rs7570373 T G 37 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.635,G/0.365;Gene=CAPN14/NM_001145122.1/1;CC=c.2028+95A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:17:0:0:12,7:369,218:37.19,0.00:36.74,0.00:0.46,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:54.5,12.3:0,0:0,0:46,24:104,127:39,8:NM_001145122.1(CAPN14) c.2028+95A>C,-:0.34,-:NOT_FOUND,- 2 31399414 rs7556787 G C 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.6374,A/.,C/0.3626;Gene=CAPN14/NM_001145122.1/1;CC=c.2028+39C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:29:24:0:0:14,15:443,471:42.24,0.00:31.53,0.00:10.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.7,15.1:0,0:0,0:44,32:106,119:29,20:NM_001145122.1(CAPN14) c.2028+39C>G,-:0.33,-:NOT_FOUND,- 2 31399509 . C . . NT END=31399891;NT GT ./. 2 31399659 rs6720151 T C 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.597,C/0.403;Gene=CAPN14/NM_001145122.1/1;CC=c.1973-151A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:5:0:0:10:309:35.62:19.18:16.44:1.00:1.00:1.00:60:57.2:0:0:64:86:41:NM_001145122.1(CAPN14) c.1973-151A>G,NM_001145122.1(CAPN14) c.1973-151A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 2 31399751 rs6720254 T G 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6358,G/0.3642;Gene=CAPN14/NM_001145122.1/1;CC=c.1972+141A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:16:14:0:0:8,8:242,230:23.18,0.00:18.45,0.00:4.73,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:73.4,12.5:0,0:0,0:69,37:78,113:30,17:NM_001145122.1(CAPN14) c.1972+141A>C,-:0.33,-:NOT_FOUND,- 2 31399988 rs4592896 C T 120 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.6354,T/0.3646;PC=0.158;Gene=CAPN14/NM_001145122.1/1;CC=c.1876G>A;ProtCh=p.V626I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:64:0:0:50,38:1604,1284:0.00,120.48:0.00,60.01:0.00,60.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,55.6:0,0:0,0:82,89:54,58:27,31:-,NM_001145122.1(CAPN14) c.1876G>A (p.Val626Ile):-,0.33:-,0.322164 2 31400009 . C . . NT END=31400611;NT GT ./. 2 31400039 rs4516476 A G 76 nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.6364,G/0.3636;Gene=CAPN14/NM_001145122.1/1;CC=c.1856-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:34:0:0:37,25:1227,827:0.00,76.46:0.00,29.43:0.00,47.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,68.0:0,0:0,0:93,98:44,53:27,23:-,NM_001145122.1(CAPN14) c.1856-31T>C:-,0.33:-,0.320193 2 31400157 rs116520788 T C 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9762,C/0.02376;Gene=CAPN14/NM_001145122.1/1;CC=c.1856-149A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,T:18:1:0:0:12,6:393,198:40.02,0.00:3.80,0.00:36.22,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,70:40.8,18.7:0,0:0,0:115,110:35,40:28,9:NM_001145122.1(CAPN14) c.1856-149A>G,-:0.02,-:NOT_FOUND,- 2 31400200 rs59011202 AC A 12 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AC/0.6785,A/0.3215;NP=15;Gene=CAPN14/NM_001145122.1/1;CC=c.1856-193delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:AC,A:10:2:0:4:6,4:144,131:0.00,12.11:0.00,3.16:0.00,8.95:0.00,0.84:0.00,0.70:0.00,0.97:60,70:29.5,33.5:0,0:0,0:103,76:47,74:24,60:-,NM_001145122.1(CAPN14) c.1856-193delG:-,0.3:-,NOT_FOUND 2 31400263 rs13409609 T G 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6366,G/0.3634;PC=0.447;Gene=CAPN14/NM_001145122.1/1;CC=c.1856-255A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:G,T:5:3:0:0:2,3:69,92:6.39,0.00:3.24,0.00:3.16,0.00:0.46,0.00:0.80,0.00:0.70,0.00:60,60:67.0,23.3:0,0:0,0:78,130:71,20:1,11:NM_001145122.1(CAPN14) c.1856-255A>C,-:0.33,-:NOT_FOUND,- 2 31400502 rs13421721 A C 59 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5909,C/0.4091;Gene=CAPN14/NM_001145122.1/1;CC=c.1855+110T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:15:0:0:17:509:58.98:51.39:7.59:1.00:1.00:1.00:60:41.5:0:0:52:99:47:NM_001145122.1(CAPN14) c.1855+110T>G,NM_001145122.1(CAPN14) c.1855+110T>G:0.37,0.37:NOT_FOUND,NOT_FOUND 2 31400510 rs1443707 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6378,A/0.3622;Gene=CAPN14/NM_001145122.1/1;CC=c.1855+102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:18:16:0:0:5,13:170,384:14.77,0.00:13.68,0.00:1.09,0.00:0.87,0.00:0.98,0.00:0.79,0.00:60,60:61.6,29.4:0,0:0,0:71,21:78,130:48,16:NM_001145122.1(CAPN14) c.1855+102C>T,-:0.33,-:NOT_FOUND,- 2 31400688 . C . . NT END=31401376;NT GT ./. 2 31400722 rs1443706 G A 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6378,A/0.3622;PC=0.200;Gene=CAPN14/NM_001145122.1/1;CC=c.1780-35C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:20:0:0:13,21:451,665:41.49,0.00:17.72,0.00:23.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,9.5:0,0:0,0:95,97:56,33:20,25:NM_001145122.1(CAPN14) c.1780-35C>T,-:0.33,-:NOT_FOUND,- 2 31400867 rs1373216 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6631,C/0.3369;Gene=CAPN14/NM_001145122.1/1;CC=c.1780-180A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:6:0:0:0:4,2:121,63:12.35,0.00:0.00,0.00:12.35,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:39.0,28.0:0,0:0,0:86,75:63,76:42,67:NM_001145122.1(CAPN14) c.1780-180A>G,-:0.31,-:NOT_FOUND,- 2 31401290 rs4952052 A C 94 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.01298,C/0.987;Gene=CAPN14/NM_001145122.1/1;CC=c.1779+87T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:24:0:0:25:820:93.86:87.95:5.92:1.00:1.00:1.00:60:46.1:0:0:66:85:43:NM_001145122.1(CAPN14) c.1779+87T>G,NM_001145122.1(CAPN14) c.1779+87T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 31401446 . C . . NT END=31403801;NT GT ./. 2 31401499 rs28684727 G A 43 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6571,A/0.3429;Gene=CAPN14/NM_001145122.1/1;CC=c.1711-54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:14:0:0:15,23:468,755:42.89,0.00:10.87,0.00:32.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,4.7:0,0:0,0:101,93:50,57:22,37:NM_001145122.1(CAPN14) c.1711-54C>T,-:0.31,-:NOT_FOUND,- 2 31401700 rs28376508 G T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7228,T/0.2772;Gene=CAPN14/NM_001145122.1/1;CC=c.1711-255C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,T:5:0:0:0:2,3:67,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,117.7:0,0:0,0:122,53:26,97:16,34:-,NM_001145122.1(CAPN14) c.1711-255C>A:-,0.26:-,NOT_FOUND 2 31401719 rs7578398 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6412,C/0.3588;Gene=CAPN14/NM_001145122.1/1;CC=c.1711-274A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:0:0:0:3,1:92,32:9.65,0.00:0.00,0.00:9.65,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:117.7,0.0:0,0:0,0:72,125:78,25:34,0:NM_001145122.1(CAPN14) c.1711-274A>G,-:0.33,-:NOT_FOUND,- 2 31401763 rs7564478 G T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5948,T/0.4052;PC=0.003;Gene=CAPN14/NM_001145122.1/1;CC=c.1711-318C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:60:113.0:0:0:94:56:37:NM_001145122.1(CAPN14) c.1711-318C>A,NM_001145122.1(CAPN14) c.1711-318C>A:0.36,0.36:NOT_FOUND,NOT_FOUND 2 31403867 . C . . NT END=31409293;NT GT ./. 2 31403947 rs2028678 G A 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.642,A/0.358;Gene=CAPN14/NM_001145122.1/1;CC=c.1646-81C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:11:0:0:15,10:471,343:46.94,0.00:9.90,0.00:37.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.2,24.7:0,0:0,0:127,91:23,57:10,39:NM_001145122.1(CAPN14) c.1646-81C>T,-:0.33,-:NOT_FOUND,- 2 31404001 rs2028677 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5954,C/0.4046;Gene=CAPN14/NM_001145122.1/1;CC=c.1646-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:310:35.77:0.00:35.77:1.00:0.00:1.00:60:56.8:0:0:118:32:19:NM_001145122.1(CAPN14) c.1646-135A>G,NM_001145122.1(CAPN14) c.1646-135A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 2 31409115 rs10445909 T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6412,C/0.3588;PC=0.088;Gene=CAPN14/NM_001145122.1/1;CC=c.1645+179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,G,T:7:7:0:0:3,1,3:105,13,71:10.11,0.76,0.00:10.11,0.76,0.00:0.00,0.00,0.00:0.69,0.00,0.00:0.69,0.00,0.00:0.00,0.00,0.00:60,60,60:35.0,171.0,10.7:0,0,0:0,0,0:17,28,94:133,121,57:1,0,8:NM_001145122.1(CAPN14) c.1645+179A>G,-:0.33,-:NOT_FOUND,- 2 31409352 . C . . NT END=31410623;NT GT ./. 2 31410653 rs7422120 C T 65 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.6717,T/0.3283;PC=0.461;Gene=CAPN14/NM_001145122.1/1;CC=c.1558G>A;ProtCh=p.D520N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:24:0:0:18,20:621,667:0.00,64.82:0.00,23.88:0.00,40.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.7,69.1:0,0:0,0:85,88:58,57:21,32:-,NM_001145122.1(CAPN14) c.1558G>A (p.Asp520Asn):-,0.3:-,0.272887 2 31410681 . C . . NT END=31411183;NT GT ./. 2 31410708 rs1822496 C T 91 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.001597,T/0.9984;NP=991;Gene=CAPN14/NM_001145122.1/1;CC=c.1531-28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:13:0:0:26:783:90.58:33.34:57.24:1.00:1.00:1.00:60:67.4:0:0:106:34:34:NM_001145122.1(CAPN14) c.1531-28G>A,NM_001145122.1(CAPN14) c.1531-28G>A:1,1:0.99781,0.99781 2 31410728 rs764072 C A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6699,A/0.3301;Gene=CAPN14/NM_001145122.1/1;CC=c.1531-48G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:A,C:16:6:0:0:6,10:183,312:16.55,0.00:4.22,0.00:12.32,0.00:0.95,0.00:0.93,0.00:1.00,0.00:60,60:106.0,49.0:0,0:0,0:109,94:42,55:16,29:NM_001145122.1(CAPN14) c.1531-48G>T,-:0.3,-:0.271353,- 2 31411184 rs1465972 C A 44 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.6697,A/0.3303;PC=1.000;Gene=CAPN14/NM_001145122.1/1;CC=c.1530G>T;ProtCh=p.K510N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:41:32:0:0:15,26:490,875:44.45,0.00:30.32,0.00:14.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.1,14.3:0,0:0,0:86,32:59,103:27,18:NM_001145122.1(CAPN14) c.1530G>T (p.Lys510Asn),-:0.3,-:0.272887,- 2 31411221 . C . . NT END=31412138;NT GT ./. 2 31411242 rs1465973 C A 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.6697,A/0.3303,G/.;Gene=CAPN14/NM_001145122.1/1;CC=c.1494-22G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:42:31:0:0:17,25:548,879:50.60,0.00:23.43,0.00:27.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.4,24.9:0,0:0,0:72,82:71,68:23,15:NM_001145122.1(CAPN14) c.1494-22G>T,-:0.3,-:0.272011,- 2 31411293 rs146061154 T C 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.983,C/0.01697;Gene=CAPN14/NM_001145122.1/1;CC=c.1494-73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:16:0:0:17,14:546,484:53.44,0.00:15.98,0.00:37.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,75.7:0,0:0,0:116,104:34,46:17,12:NM_001145122.1(CAPN14) c.1494-73A>G,-:0.01,-:0.017959,- 2 31411310 rs1465974 C T 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.6697,T/0.3303;Gene=CAPN14/NM_001145122.1/1;CC=c.1494-90G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:13:0:0:15,13:490,421:0.00,39.88:0.00,12.86:0.00,27.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.9,79.1:0,0:0,0:120,109:30,41:18,13:-,NM_001145122.1(CAPN14) c.1494-90G>A:-,0.3:-,NOT_FOUND 2 31411355 rs140054942 C T 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.983,T/0.01697;Gene=CAPN14/NM_001145122.1/1;CC=c.1494-135G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:0:0:0:7,10:236,285:0.00,28.22:0.00,0.00:0.00,28.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:64.1,60.3:0,0:0,0:61,97:89,51:42,11:-,NM_001145122.1(CAPN14) c.1494-135G>A:-,0.01:-,NOT_FOUND 2 31411365 rs1465975 G A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6757,A/0.3243;Gene=CAPN14/NM_001145122.1/1;CC=c.1494-145C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,G:14:0:0:0:5,9:161,316:14.52,0.00:0.00,0.00:14.52,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:59.6,56.3:0,0:0,0:70,104:81,44:40,10:NM_001145122.1(CAPN14) c.1494-145C>T,-:0.29,-:NOT_FOUND,- 2 31412013 rs55817058 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6733,C/0.3267;PC=0.001;Gene=CAPN14/NM_001145122.1/1;CC=c.1493+126A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:16:0:0:9,7:261,246:25.60,0.00:25.60,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:100.9,2.1:0,0:0,0:12,34:139,117:9,18:NM_001145122.1(CAPN14) c.1493+126A>G,-:0.3,-:NOT_FOUND,- 2 31412049 rs17010910 A T 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7045,T/0.2955;PC=0.157;Gene=CAPN14/NM_001145122.1/1;CC=c.1493+90T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:27:0:0:16,11:525,304:0.00,27.69:0.00,27.92:0.00,-0.23:0.00,1.00:0.00,1.00:0.00,0.71:60,60:5.4,94.5:0,0:0,0:33,40:118,109:17,14:-,NM_001145122.1(CAPN14) c.1493+90T>A:-,0.26:-,NOT_FOUND 2 31412096 rs55741080 T C 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6789,C/0.3211;Gene=CAPN14/NM_001145122.1/1;CC=c.1493+43A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:41:0:0:24,22:797,715:77.30,0.00:57.71,0.00:19.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.8,5.6:0,0:0,0:39,55:108,96:29,22:NM_001145122.1(CAPN14) c.1493+43A>G,-:0.29,-:0.263469,- 2 31412345 . C . . NT END=31414264;NT GT ./. 2 31412443 rs13382984 T C 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6789,A/.,C/0.3211;Gene=CAPN14/NM_001145122.1/1;CC=c.1288-99A>G;VC=Intron;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:21:1:0:0:8,1,12:257,10,392:23.66,0.10,0.00:-0.10,-0.01,0.00:23.77,0.11,0.00:0.99,0.00,0.00:0.59,0.00,0.00:0.99,0.00,0.00:60,60,60:35.8,42.0,2.0:0,0,0:0,0,0:78,64,111:72,74,40:50,0,19:NM_001145122.1(CAPN14) c.1288-99A>G,-:0.29,-:NOT_FOUND,- 2 31414223 rs13408524 G A 78 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.6891,A/0.3109;PC=0.001;Gene=CAPN14/NM_001145122.1/1;CC=c.1287+42C>T;VC=Intron;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:43:0:0:27,21:797,686:78.25,0.00:58.44,0.00:19.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:49.7,18.1:0,0:0,0:58,70:73,77:30,26:NM_001145122.1(CAPN14) c.1287+42C>T,-:0.29,-:0.262593,- 2 31414274 . C . . NT END=31414800;NT GT ./. 2 31414296 rs574181271 G GA 15 idl,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=5;PC=0.015;Gene=CAPN14/NM_001145122.1/1;CC=c.1279-24_1279-23insT;VC=Intron;DM=CAPN14/Calpain_III;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,G,GA,D:38:23:7:6:5,23,6,4:106,733,213,123:7.30,0.00,14.92,9.18:-0.71,0.00,9.36,2.33:8.02,0.00,5.57,6.85:0.00,0.00,0.88,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.97,0.00:60,60,70,60:84.8,28.2,93.2,49.8:0,0,1,0:0,0,0,0:73,101,89,84:53,47,59,51:14,25,31,6:-,NM_001145122.1(CAPN14) c.1279-24_1279-23insT:-,NOT_FOUND:-,NOT_FOUND 2 31414325 rs113833644 T G 31 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.9685,G/0.03155;Gene=CAPN14/NM_001145122.1/1;CC=c.1279-52A>C;VC=Intron;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:37:19:0:0:1,13,23:10,347,609:-0.04,30.67,0.00:-0.09,7.72,0.00:0.05,22.95,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:37,70,60:78.0,61.7,44.8:0,0,0:0,0,0:72,102,88:33,29,47:0,20,32:NM_001145122.1(CAPN14) c.1279-52A>C,-:0.02,-:0.027376,- 2 31414807 rs1562022 C G 383 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.08606,G/0.9139;PC=0.997;Gene=CAPN14/NM_001145122.1/1;CC=c.1272G>C;ProtCh=p.L424=;VC=Silent;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:101:84:0:0:101:3350:383.06:264.21:118.85:1.00:1.00:1.00:60:38.7:0:0:48:101:33:NM_001145122.1(CAPN14) c.1272G>C (p.(=)),NM_001145122.1(CAPN14) c.1272G>C (p.(=)):0.92,0.92:0.906702,0.906702 2 31414965 . C . . NT END=31415996;NT GT ./. 2 31415054 rs17010928 G A 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.8389,A/0.1611;Gene=CAPN14/NM_001145122.1/1;CC=c.1115-90C>T;VC=Intron;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:12:0:0:15,29:453,924:40.21,0.00:6.21,0.00:34.00,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:34.8,7.4:0,0:0,0:104,108:31,43:32,26:NM_001145122.1(CAPN14) c.1115-90C>T,-:0.14,-:NOT_FOUND,- 2 31415826 rs6543614 A G 42 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2041,G/0.7959;Gene=CAPN14/NM_001145122.1/1;CC=c.1114+171T>C;VC=Intron;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:12:0:0:12:364:42.10:42.10:0.00:1.00:1.00:0.00:60:69.7:0:0:57:93:41:NM_001145122.1(CAPN14) c.1114+171T>C,NM_001145122.1(CAPN14) c.1114+171T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 31415831 rs6543615 A G 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2049,G/0.7951;Gene=CAPN14/NM_001145122.1/1;CC=c.1114+166T>C;VC=Intron;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:15:15:0:0:15:379:44.69:44.69:0.00:1.00:1.00:0.00:60:67.9:0:0:27:124:27:NM_001145122.1(CAPN14) c.1114+166T>C,NM_001145122.1(CAPN14) c.1114+166T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 31415967 rs7591444 T C 246 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.4453,C/0.5547;Gene=CAPN14/NM_001145122.1/1;CC=c.1114+30A>G;VC=Intron;DM=CAPN14/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:60:0:0:67:2142:246.15:185.24:60.90:1.00:1.00:1.00:60:45.0:0:0:50:93:32:NM_001145122.1(CAPN14) c.1114+30A>G,NM_001145122.1(CAPN14) c.1114+30A>G:0.55,0.55:0.534385,0.534385 2 31416161 . C . . NT END=31417274;NT GT ./. 2 31416213 rs11124248 T C 149 nt VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.5443,C/0.4557;Gene=CAPN14/NM_001145122.1/1;CC=c.951-53A>G;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:40:21:0:0:40:1300:149.00:47.81:101.19:1.00:1.00:1.00:60:46.2:0:0:95:47:36:NM_001145122.1(CAPN14) c.951-53A>G,NM_001145122.1(CAPN14) c.951-53A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 31416305 rs11124249 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5677,T/0.4323;PC=0.036;Gene=CAPN14/NM_001145122.1/1;CC=c.951-145G>A;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:11,7:327,203:0.00,18.41:0.00,0.00:0.00,18.41:0.00,0.98:0.00,0.00:0.00,0.98:60,60:83.5,109.6:0,0:0,0:100,48:51,103:22,16:-,NM_001145122.1(CAPN14) c.951-145G>A:-,0.44:-,NOT_FOUND 2 31416309 rs11124250 A G 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.5451,G/0.4549;Gene=CAPN14/NM_001145122.1/1;CC=c.951-149T>C;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:0:0:0:18:554:63.98:0.00:63.98:1.00:0.00:1.00:60:97.2:0:0:90:61:18:NM_001145122.1(CAPN14) c.951-149T>C,NM_001145122.1(CAPN14) c.951-149T>C:0.46,0.46:NOT_FOUND,NOT_FOUND 2 31416317 rs12619774 C G 64 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5449,G/0.4551;Gene=CAPN14/NM_001145122.1/1;CC=c.951-157G>C;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:0:0:0:17:560:64.10:0.00:64.10:1.00:0.00:1.00:60:98.9:0:0:98:53:18:NM_001145122.1(CAPN14) c.951-157G>C,NM_001145122.1(CAPN14) c.951-157G>C:0.46,0.46:NOT_FOUND,NOT_FOUND 2 31416418 rs6543616 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=CAPN14/NM_001145122.1/1;CC=c.951-258G>A;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:135:15.41:0.00:15.41:1.00:0.00:1.00:60:112.5:0:0:128:22:19:NM_001145122.1(CAPN14) c.951-258G>A,NM_001145122.1(CAPN14) c.951-258G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 31417350 . C . . NT END=31420114;NT GT ./. 2 31419934 rs6543617 A G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6196,G/0.3804;PC=0.010;Gene=CAPN14/NM_001145122.1/1;CC=c.875+181T>C;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:5:5:0:0:2,3:60,92:0.00,9.17:0.00,9.17:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,42.0:0,0:0,0:52,107:98,44:51,24:-,NM_001145122.1(CAPN14) c.875+181T>C:-,0.4:-,NOT_FOUND 2 31420201 . C . . NT END=31422335;NT GT ./. 2 31422399 . C . . NT END=31423316;NT GT ./. 2 31423122 rs6543618 G C 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.004992,C/0.995;NP=485;PC=0.001;Gene=CAPN14/NM_001145122.1/1;CC=c.726+195C>G;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:311:35.39:35.39:0.00:1.00:1.00:0.00:60:40.7:0:0:26:125:18:NM_001145122.1(CAPN14) c.726+195C>G,NM_001145122.1(CAPN14) c.726+195C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 31423492 . C . . NT END=31424727;NT GT ./. 2 31423513 rs148618724 A G 75 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.99,G/0.009984;NP=1;PC=0.029;Gene=CAPN14/NM_001145122.1/1;CC=c.552-22T>C;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:49:16:0:0:23,25,1:710,779,11:0.00,75.31,0.02:0.00,12.26,-0.05:0.00,63.05,0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.3,44.7,199.0:0,0,0:0,0,0:84,87,142:62,58,9:28,25,0:-,NM_001145122.1(CAPN14) c.552-22T>C:-,0.0014:-,0.002409 2 31424865 . C . . NT END=31424999;NT GT ./. 2 31424885 rs11692905 C T 138 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.5647,T/0.4353;PC=0.001;Gene=CAPN14/NM_001145122.1/1;CC=c.415-21G>A;VC=Intron;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:92:50:0:0:1,48,43:12,1393,1443:-0.06,0.00,137.53:0.08,0.00,58.28:-0.14,0.00,79.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:97.0,6.1,40.3:0,0,0:0,0,0:121,97,84:29,54,67:0,25,35:-,NM_001145122.1(CAPN14) c.415-21G>A:-,0.44:-,0.432326 2 31425119 . C . . NT END=31425935;NT GT ./. 2 31425783 rs1373218 A G 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4655,G/0.5345;PC=0.001;Gene=CAPN14/NM_001145122.1/1;CC=c.295+153T>C;VC=Intron;DM=CAPN14/Peptidase_C2;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:11:11:0:0:4,7:109,229:0.00,23.13:0.00,23.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:43.8,45.7:0,0:0,0:53,118:90,33:22,27:-,NM_001145122.1(CAPN14) c.295+153T>C:-,0.54:-,NOT_FOUND 2 31426006 . C . . NT END=31428088;NT GT ./. 2 31427854 rs9789485 T C 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5569,C/0.4431;PC=0.012;Gene=CAPN14/NM_001145122.1/1;CC=c.225+235A>G;VC=Intron;DM=CAPN14/Peptidase_C2;DM=CAPN14/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:C,T:6:6:0:0:5,1:167,31:17.91,0.00:17.91,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:49.0,0.0:0,0:0,0:22,7:128,142:15,0:NM_001145122.1(CAPN14) c.225+235A>G,-:0.45,-:NOT_FOUND,- 2 31428314 . G . . NT END=31457487;NT GT ./. 2 31428541 rs11687767 A G 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5581,G/0.4419;Gene=CAPN14/NM_001145122.1/1;CC=c.-52-176T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:4:0:0:0:2,2:64,67:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,33.5:0,0:0,0:127,124:22,26:17,25:-,NM_001145122.1(CAPN14) c.-52-176T>C:-,0.45:-,NOT_FOUND 2 31457154 rs6146703 GGGGACCCCGGCTT G 14 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GGGGACCCCGGCTT/0.3285,G/0.6715;DB;DBA=NA;PAF=GGGGACCCCGGCTT/0.3285,G/0.6715;NP=543;Gene=EHD3/NM_014600.2/1;CC=c.-322_-310delTTGGGACCCCGGC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:GGGGACCCCGGCTT,G:6:6:0:5:1,5:21,132:0.00,14.41:0.00,14.41:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,17.0:0,0:0,0:147,38:4,113:0,24:-,NM_014600.2(EHD3) c.-322_-310delTTGGGACCCCGGC:-,0.67:-,NOT_FOUND 2 31457715 . G . . NT END=31467139;NT GT ./. 2 31457817 rs2236170 T C 109 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4485,C/0.5515;Gene=EHD3/NM_014600.2/1;CC=c.227+103T>C;VC=Intron;DM=EHD3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:0:0:0:29:948:108.58:0.00:108.58:1.00:0.00:1.00:60:36.8:0:0:105:45:33:NM_014600.2(EHD3) c.227+103T>C,NM_014600.2(EHD3) c.227+103T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 2 31467079 rs2295471 G A 248 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.4651,A/0.5349;PC=0.006;Gene=EHD3/NM_014600.2/1;CC=c.228-61G>A;VC=Intron;DM=EHD3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:69:63:0:0:69:2148:247.53:197.80:49.73:1.00:1.00:1.00:60:39.9:0:0:48:98:29:NM_014600.2(EHD3) c.228-61G>A,NM_014600.2(EHD3) c.228-61G>A:0.54,0.54:NOT_FOUND,NOT_FOUND 2 31467317 . G . . NT END=31472236;NT GT ./. 2 31467351 rs2295473 T A 185 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.3335,A/0.6665;Gene=EHD3/NM_014600.2/1;CC=c.404+35T>A;VC=Intron;DM=EHD3/Dynamin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:A,T:60:13:0:0:59,1:1590,10:184.90,0.00:33.34,0.00:151.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,175.0:0,0:0,0:115,64:33,86:23,0:NM_014600.2(EHD3) c.404+35T>A,NM_014600.2(EHD3) c.404+35T>A:0.65,0.65:0.563586,0.563586 2 31472335 . G . . NT END=31483375;NT GT ./. 2 31483789 . G . . NT END=31484414;NT GT ./. 2 31483890 rs13028669 T C 129 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.3305,C/0.6695;Gene=EHD3/NM_014600.2/1;CC=c.915+102T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:5:0:0:37:1117:129.19:11.58:117.61:1.00:1.00:1.00:60:40.3:0:0:117:34:18:NM_014600.2(EHD3) c.915+102T>C,NM_014600.2(EHD3) c.915+102T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 2 31484334 rs654650 G A 205 nt VT=SNV;PN=G;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.1056,A/0.8944;PC=0.001;Gene=EHD3/NM_014600.2/1;CC=c.916-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:A,T:55:54:0:0:54,1:1801,10:205.43,0.17:170.71,0.17:34.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,121.0:0,0:0,0:50,116:98,35:32,0:NM_014600.2(EHD3) c.916-81G>A,NM_014600.2(EHD3) c.916-81G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 2 31484580 . G . . NT END=31489042;NT GT ./. 2 31488965 rs619002 C T 137 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.09964,T/0.9004;Gene=EHD3/NM_014600.2/1;CC=c.1081-78C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:T:42:39:0:0:42:1170:136.77:116.25:20.52:1.00:1.00:1.00:60:43.7:0:0:30:119:19:NM_014600.2(EHD3) c.1081-78C>T,NM_014600.2(EHD3) c.1081-78C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 2 31489571 . T . . NT END=31558823;NT GT ./. 2 31489627 rs67643147 TAC T 28 idl,rn VT=DEL;SST=Single;DP=93;DB;DBA=NA;PAF=TAC/0.7218,T/0.2782;DB;DBA=NA;PAF=TAC/0.7218,T/0.2782;NP=15;Gene=EHD3/NM_014600.2/1;CC=c.*89_*90delCA;VC=3UTR;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,TAC,I,T:90:27:1:16:1,75,1,13:10,2218,26,458:-0.25,0.00,0.79,28.11:-0.07,0.00,-0.07,7.89:-0.18,0.00,0.86,20.22:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.95:0.00,0.00,0.00,1.00:44,60,60,60:212.0,14.1,35.0,22.3:0,0,0,3:0,0,0,0:98,109,54,77:33,42,97,74:0,26,0,24:-,NM_014600.2(EHD3) c.*59CA[15]:-,NOT_FOUND:-,NOT_FOUND 2 31489727 rs644926 T C 116 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.09884,C/0.9012;Gene=EHD3/NM_014600.2/1;CC=c.*157T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:C,T:36:0:0:0:35,1:1016,12:116.26,0.00:0.00,0.00:116.26,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:47.9,0.0:0,0:0,0:93,29:58,120:38,0:NM_014600.2(EHD3) c.*157T>C,NM_014600.2(EHD3) c.*157T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 31496819 rs58396995 TACACACACACAC T 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=136;PC=0.057;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:4:3:114:10.96:5.63:5.33:0.85:0.99:0.95:60:4.7:1:0:85:66:11:chr2 g.31496820_31496831delACACACACACAC (intergenic),chr2 g.31496820_31496831delACACACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 31558875 . C . . NT END=31560506;NT GT ./. 2 31559095 rs2268800 G C 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5653,C/0.4347;PC=0.002;Gene=XDH/NM_000379.3/1;CC=c.3952-221C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:0:0:0:14:429:49.57:0.00:49.57:1.00:0.00:1.00:60:31.6:0:0:78:72:27:NM_000379.3(XDH) c.3952-221C>G,NM_000379.3(XDH) c.3952-221C>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 31560684 . C . . NT END=31562354;NT GT ./. 2 31562544 . C . . NT END=31564194;NT GT ./. 2 31564261 . C . . NT END=31565048;NT GT ./. 2 31565164 . C . . NT END=31567549;NT GT ./. 2 31565360 rs12614330 C T 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5925,T/0.4075;PC=0.058;Gene=XDH/NM_000379.3/1;CC=c.3405-197G>A;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:216:24.92:0.00:24.92:1.00:0.00:1.00:60:33.3:0:0:80:70:34:NM_000379.3(XDH) c.3405-197G>A,NM_000379.3(XDH) c.3405-197G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 31567298 rs207452 T G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.01857,G/0.9814;Gene=XDH/NM_000379.3/1;CC=c.3404+252A>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:50.5:0:0:18:131:7:NM_000379.3(XDH) c.3404+252A>C,NM_000379.3(XDH) c.3404+252A>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 31567603 . C . . NT END=31569634;NT GT ./. 2 31567743 rs566224 T C 73 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.003594,C/0.9964;NP=2038;Gene=XDH/NM_000379.3/1;CC=c.3352-141A>G;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:0:0:0:20:638:73.31:0.00:73.31:1.00:0.00:1.00:60:33.0:0:0:94:57:46:NM_000379.3(XDH) c.3352-141A>G,NM_000379.3(XDH) c.3352-141A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 31569305 rs7598968 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2212,G/0.7788;Gene=XDH/NM_000379.3/1;CC=c.3351+330T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:115:13.40:13.40:0.00:1.00:1.00:0.00:60:52.2:0:0:72:79:13:NM_000379.3(XDH) c.3351+330T>C,NM_000379.3(XDH) c.3351+330T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 31569374 rs7572658 C G 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2228,G/0.7772;Gene=XDH/NM_000379.3/1;CC=c.3351+261G>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:246:28.41:28.41:0.00:1.00:1.00:0.00:60:58.9:0:0:29:120:20:NM_000379.3(XDH) c.3351+261G>C,NM_000379.3(XDH) c.3351+261G>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 31569471 rs7599175 A G 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2023,G/0.7977;Gene=XDH/NM_000379.3/1;CC=c.3351+164T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:464:53.92:53.92:0.00:1.00:1.00:0.00:60:42.3:0:0:49:101:33:NM_000379.3(XDH) c.3351+164T>C,NM_000379.3(XDH) c.3351+164T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 31569710 . C . . NT END=31570387;NT GT ./. 2 31570069 rs1366811 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2232,G/0.7768;Gene=XDH/NM_000379.3/1;CC=c.3276+319T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:136:15.51:11.63:3.88:1.00:1.00:1.00:60:62.8:0:0:109:41:30:NM_000379.3(XDH) c.3276+319T>C,NM_000379.3(XDH) c.3276+319T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 31570115 rs1366812 G C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3918,C/0.6082;Gene=XDH/NM_000379.3/1;CC=c.3276+273C>G;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:60:55.5:0:0:53:96:37:NM_000379.3(XDH) c.3276+273C>G,NM_000379.3(XDH) c.3276+273C>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 31570376 rs1366813 T C 437 nt VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.2226,C/0.7774;Gene=XDH/NM_000379.3/1;CC=c.3276+12A>G;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:117:99:0:0:117:3813:436.97:282.48:154.48:1.00:1.00:1.00:60:38.8:0:0:56:85:31:NM_000379.3(XDH) c.3276+12A>G,NM_000379.3(XDH) c.3276+12A>G:0.79,0.79:0.75173,0.75173 2 31570517 . C . . NT END=31571133;NT GT ./. 2 31570626 rs4952083 C T 148 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.2033,T/0.7967;Gene=XDH/NM_000379.3/1;CC=c.3148-110G>A;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:9:0:0:39:1290:147.60:18.33:129.26:1.00:1.00:1.00:60:79.2:0:0:103:48:33:NM_000379.3(XDH) c.3148-110G>A,NM_000379.3(XDH) c.3148-110G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 2 31570631 rs4952084 A G 137 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.2029,G/0.7971;Gene=XDH/NM_000379.3/1;CC=c.3148-115T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:7:0:0:35:1204:137.09:14.81:122.28:1.00:1.00:1.00:60:82.3:0:0:108:43:31:NM_000379.3(XDH) c.3148-115T>C,NM_000379.3(XDH) c.3148-115T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 31570689 rs4952085 G A 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.2027,A/0.7973;Gene=XDH/NM_000379.3/1;CC=c.3148-173C>T;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:1:0:0:21:667:76.69:3.58:73.11:1.00:1.00:1.00:60:86.0:0:0:89:62:31:NM_000379.3(XDH) c.3148-173C>T,NM_000379.3(XDH) c.3148-173C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 2 31571230 . C . . NT END=31571764;NT GT ./. 2 31571241 rs13415401 G C 209 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.2316,C/0.7684;PC=0.003;Gene=XDH/NM_000379.3/1;CC=c.3052-12C>G;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A,C,T:58:29:0:0:1,56,1:20,1829,9:0.78,208.64,0.13:0.00,64.82,0.00:0.78,143.82,0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:184.0,42.0,9.0:0,0,0:0,0,0:59,105,144:82,39,6:0,24,0:NM_000379.3(XDH) c.3052-12C>G,NM_000379.3(XDH) c.3052-12C>G:0.78,0.78:0.742965,0.742965 2 31571786 rs1884725 A G 203 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.2001,G/0.7999;PC=1.000;Gene=XDH/NM_000379.3/1;CC=c.3030T>C;ProtCh=p.F1010=;VC=Silent;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:G:54:41:0:0:54:1777:203.31:115.62:87.69:1.00:1.00:1.00:60:41.2:0:0:56:84:27:NM_000379.3(XDH) c.3030T>C (p.(=)),NM_000379.3(XDH) c.3030T>C (p.(=)):0.8,0.8:0.772951,0.772951 2 31571847 . C . . NT END=31572551;NT GT ./. 2 31572398 rs1429374 A G 70 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.399,G/0.601;Gene=XDH/NM_000379.3/1;CC=c.2969+154T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:18:0:0:18:619:70.48:70.48:0.00:1.00:1.00:0.00:60:41.6:0:0:41:108:29:NM_000379.3(XDH) c.2969+154T>C,NM_000379.3(XDH) c.2969+154T>C:0.64,0.64:NOT_FOUND,NOT_FOUND 2 31572482 rs397723726 T TG 169 nt VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.1993,TG/.,TGG/0.7963,TGT/0.004393;DB;DBA=NA;PAF=NA;NP=3266;Gene=XDH/NM_000379.3/1;CC=c.2969+69dupC;VC=Intron;DM=XDH/Ald_Xan_dh_C2;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G,TG:52:43:49:0:3,49:92,1474:6.93,169.46:4.59,131.31:2.34,38.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.7,12.6:0,0:0,0:0,32:151,119:0,26:NM_000379.3(XDH) c.2969+69_2969+70insC,NM_000379.3(XDH) c.2969+69_2969+70insC:0.8,0.8:NOT_FOUND,NOT_FOUND 2 31572698 . C . . NT END=31572897;NT GT ./. 2 31573090 . C . . NT END=31587023;NT GT ./. 2 31573346 rs11680208 A G 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.229,G/0.771;Gene=XDH/NM_000379.3/1;CC=c.2632-257T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:187:21.56:0.00:21.56:1.00:0.00:1.00:60:33.0:0:0:99:50:21:NM_000379.3(XDH) c.2632-257T>C,NM_000379.3(XDH) c.2632-257T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 31587111 . C . . NT END=31588322;NT GT ./. 2 31587235 rs1018505 G A 52 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2298,A/0.7702;Gene=XDH/NM_000379.3/1;CC=c.2545-125C>T;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:0:0:0:16:445:52.04:0.00:52.04:1.00:0.00:1.00:60:61.5:0:0:103:48:16:NM_000379.3(XDH) c.2545-125C>T,NM_000379.3(XDH) c.2545-125C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 31588288 rs2365842 T A 245 nt VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.3379,A/0.6621,C/.;Gene=XDH/NM_000379.3/1;CC=c.2544+35A>T;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:61:0:0:67:2128:244.60:183.33:61.27:1.00:1.00:1.00:60:37.1:0:0:67:84:33:NM_000379.3(XDH) c.2544+35A>T,NM_000379.3(XDH) c.2544+35A>T:0.69,0.69:0.632324,0.632324 2 31588411 . C . . NT END=31588841;NT GT ./. 2 31588561 rs1429376 A C 110 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.2254,C/0.7746;Gene=XDH/NM_000379.3/1;CC=c.2457-151T>G;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:10:0:0:30:959:110.16:33.72:76.44:1.00:1.00:1.00:60:54.6:0:0:118:32:26:NM_000379.3(XDH) c.2457-151T>G,NM_000379.3(XDH) c.2457-151T>G:0.79,0.79:NOT_FOUND,NOT_FOUND 2 31588577 rs17011356 A G 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.746,G/0.254;Gene=XDH/NM_000379.3/1;CC=c.2457-167T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:11:0:0:12,10:398,312:0.00,29.36:0.00,9.57:0.00,19.79:0.00,1.00:0.00,0.93:0.00,0.93:60,60:48.3,78.7:0,0:0,0:74,93:76,45:45,42:-,NM_000379.3(XDH) c.2457-167T>C:-,0.29:-,NOT_FOUND 2 31588664 rs12621192 C T 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7081,T/0.2919;Gene=XDH/NM_000379.3/1;CC=c.2456+178G>A;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:24:0:0:13,16:383,471:0.00,46.02:0.00,42.15:0.00,3.86:0.00,1.00:0.00,1.00:0.00,0.98:60,60:28.0,36.9:0,0:0,0:62,59:88,90:37,28:-,NM_000379.3(XDH) c.2456+178G>A:-,0.29:-,NOT_FOUND 2 31588976 . C . . NT END=31589735;NT GT ./. 2 31589654 rs13387204 T C 146 nt VT=SNV;PN=C;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.7147,C/0.2853;Gene=XDH/NM_000379.3/1;CC=c.2322+82A>G;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:100:91:0:0:48,52:1532,1715:146.01,0.00:113.33,0.00:32.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,8.9:0,0:0,0:38,36:107,113:27,26:NM_000379.3(XDH) c.2322+82A>G,-:0.32,-:NOT_FOUND,- 2 31589847 rs2295475 G A 249 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=167;DB;DBA=NA;PAF=G/0.7298,A/0.2702;PC=0.132;Gene=XDH/NM_000379.3/1;CC=c.2211C>T;ProtCh=p.I737=;VC=Silent;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:167:89:0:0:80,87:2609,2741:248.98,0.00:103.31,0.00:145.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,5.7:0,0:0,0:80,80:65,70:39,39:NM_000379.3(XDH) c.2211C>T (p.(=)),-:0.27,-:0.233508,- 2 31589861 . C . . NT END=31590826;NT GT ./. 2 31590156 rs732436 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2925,G/0.7075;Gene=XDH/NM_000379.3/1;CC=c.2198-296T>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:264:30.67:0.00:30.67:1.00:0.00:1.00:60:40.8:0:0:121:28:14:NM_000379.3(XDH) c.2198-296T>C,NM_000379.3(XDH) c.2198-296T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 2 31590626 rs2281549 G C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7013,C/0.2987;PC=0.108;Gene=XDH/NM_000379.3/1;CC=c.2197+201C>G;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:5:5:0:0:3,2:77,68:7.63,0.00:7.63,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:28.3,0.0:0,0:0,0:46,32:102,118:20,2:NM_000379.3(XDH) c.2197+201C>G,-:0.34,-:NOT_FOUND,- 2 31590759 rs2281550 C T 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7468,T/0.2532;Gene=XDH/NM_000379.3/1;CC=c.2197+68G>A;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:40:0:0:27,14:890,438:0.00,39.05:0.00,36.20:0.00,2.86:0.00,1.00:0.00,1.00:0.00,0.90:60,60:35.6,35.3:0,0:0,0:54,58:97,92:37,33:-,NM_000379.3(XDH) c.2197+68G>A:-,0.29:-,NOT_FOUND 2 31590785 rs761926 C G 114 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.7268,G/0.2732;PC=0.129;Gene=XDH/NM_000379.3/1;CC=c.2197+42G>C;VC=Intron;DM=XDH/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:56:52:0:0:22,34:720,1140:0.00,113.91:0.00,93.66:0.00,20.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.3,37.7:0,0:0,0:34,55:115,96:29,39:-,NM_000379.3(XDH) c.2197+42G>C:-,0.27:-,0.228741 2 31590924 . C . . NT END=31591406;NT GT ./. 2 31591527 . C . . NT END=31593220;NT GT ./. 2 31593345 . C . . NT END=31595093;NT GT ./. 2 31595264 . C . . NT END=31596738;NT GT ./. 2 31595424 rs10171290 T C 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.619,C/0.381;Gene=XDH/NM_000379.3/1;CC=c.1687-161A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:C,T:20:0:0:0:14,6:478,199:49.17,0.00:0.00,0.00:49.17,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.6,7.0:0,0:0,0:123,75:27,75:18,26:NM_000379.3(XDH) c.1687-161A>G,-:0.37,-:NOT_FOUND,- 2 31596519 rs4549138 G A 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7452,A/0.2548;PC=0.001;Gene=XDH/NM_000379.3/1;CC=c.1686+220C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:4:4:0:0:2,2:67,45:6.47,0.00:6.47,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:33.5,53.0:0,0:0,0:64,59:85,92:60,14:NM_000379.3(XDH) c.1686+220C>T,-:0.29,-:NOT_FOUND,- 2 31596823 . C . . NT END=31598245;NT GT ./. 2 31596955 rs4952086 G A 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5619,A/0.4381;PC=0.001;Gene=XDH/NM_000379.3/1;CC=c.1603-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:8,6:254,197:25.06,0.00:0.00,0.00:25.06,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:64.5,28.2:0,0:0,0:108,76:43,74:23,47:NM_000379.3(XDH) c.1603-133C>T,-:0.47,-:NOT_FOUND,- 2 31596963 rs4952087 T C 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.5609,C/0.4391;Gene=XDH/NM_000379.3/1;CC=c.1603-141A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:10,7:289,210:28.65,0.00:0.00,0.00:28.65,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:58.0,40.1:0,0:0,0:108,77:43,72:33,44:NM_000379.3(XDH) c.1603-141A>G,-:0.47,-:NOT_FOUND,- 2 31597130 rs4952088 G A 9 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5401,A/0.4599;Gene=XDH/NM_000379.3/1;CC=c.1603-308C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:0:0:0:3,1:88,34:9.25,0.00:0.00,0.00:9.25,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:46.7,12.0:0,0:0,0:142,127:9,24:1,0:NM_000379.3(XDH) c.1603-308C>T,-:0.49,-:NOT_FOUND,- 2 31598421 . C . . NT END=31599918;NT GT ./. 2 31598485 rs2070294 T C 155 nt VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.6835,C/0.3165;Gene=XDH/NM_000379.3/1;CC=c.1428-65A>G;VC=Intron;DM=XDH/CO_deh_flav_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:101:45:0:0:53,1,47:1597,12,1614:154.91,-0.05,0.00:52.55,-0.04,0.00:102.36,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,102.0,11.5:0,0,0:0,0,0:118,124,95:28,27,50:24,0,31:NM_000379.3(XDH) c.1428-65A>G,-:0.3,-:NOT_FOUND,- 2 31600104 . C . . NT END=31602732;NT GT ./. 2 31600146 rs10187719 T C 223 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.2492,A/.,C/0.7508;Gene=XDH/NM_000379.3/1;CC=c.1243-43A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:C:59:15:0:0:59:1948:222.82:39.92:182.90:1.00:1.00:1.00:60:39.6:0:0:82:67:28:NM_000379.3(XDH) c.1243-43A>G,NM_000379.3(XDH) c.1243-43A>G:0.76,0.76:0.73766,0.73766 2 31600307 . G GA 8 rn VT=INS;SST=Single;DP=10;PC=0.019;Gene=XDH/NM_000379.3/1;CC=c.1243-205dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:G,T,GA:10:0:3:0:6,1,3:198,9,92:0.00,0.20,8.13:0.00,0.00,0.00:0.00,0.20,8.13:0.00,0.00,0.62:0.00,0.00,0.00:0.00,0.00,0.62:60,60,60:30.0,9.0,9.3:0,0,0:0,0,0:123,47,125:18,102,24:21,0,3:-,NM_000379.3(XDH) c.1243-205_1243-204insT:-,NOT_FOUND:-,NOT_FOUND 2 31602843 . C . . NT END=31604498;NT GT ./. 2 31604593 . C . . NT END=31605866;NT GT ./. 2 31605615 rs1864280 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5401,G/0.4599;Gene=XDH/NM_000379.3/1;CC=c.1038+252T>C;VC=Intron;DM=XDH/FAD_binding_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,G:9:9:0:0:4,5:136,138:0.00,13.50:0.00,13.50:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:16.0,68.8:0,0:0,0:24,82:126,69:13,48:-,NM_000379.3(XDH) c.1038+252T>C:-,0.48:-,NOT_FOUND 2 31606019 . C . . NT END=31606620;NT GT ./. 2 31606714 . C . . NT END=31609279;NT GT ./. 2 31609422 . C . . NT END=31610676;NT GT ./. 2 31609448 rs477626 A C 349 nt VT=SNV;PN=A;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=3481;PC=0.001;Gene=XDH/NM_000379.3/1;CC=c.652-27T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:91:37:0:0:1,90:8,3073:0.00,348.62:0.00,95.08:0.00,253.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:206.0,41.1:0,0:0,0:85,100:64,48:0,25:NM_000379.3(XDH) c.652-27T>G,NM_000379.3(XDH) c.652-27T>G:1,1:NOT_FOUND,NOT_FOUND 2 31610764 . C . . NT END=31611092;NT GT ./. 2 31611029 rs2073316 G A 140 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.6428,A/0.3572;Gene=XDH/NM_000379.3/1;CC=c.564+64C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:A,G:39:32:0:0:38,1:1241,35:140.16,0.00:106.62,0.00:33.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,32.0:0,0:0,0:51,14:99,137:31,0:NM_000379.3(XDH) c.564+64C>T,NM_000379.3(XDH) c.564+64C>T:0.39,0.39:0.428384,0.428384 2 31611162 . C . . NT END=31620533;NT GT ./. 2 31611367 rs206847 T C 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.4073,C/0.5927;PC=0.002;Gene=XDH/NM_000379.3/1;CC=c.496-206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,C:14:0:0:0:1,13:11,396:0.53,45.38:0.00,0.00:0.53,45.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:93.0,35.2:0,0:0,0:51,96:100,55:0,30:NM_000379.3(XDH) c.496-206A>G,NM_000379.3(XDH) c.496-206A>G:0.6,0.6:NOT_FOUND,NOT_FOUND 2 31620596 . C . . NT END=31621438;NT GT ./. 2 31621566 . C . . NT END=31624085;NT GT ./. 2 31624195 . C . . NT END=31625913;NT GT ./. 2 31626011 . C . . NT END=31628772;NT GT ./. 2 31628831 . C . . NT END=31637490;NT GT ./. 2 31637533 . T . . NT END=31751265;NT GT ./. 2 31751333 . C . . NT END=31754376;NT GT ./. 2 31754528 . C . . NT END=31756440;NT GT ./. 2 31756543 . C . . NT END=31758672;NT GT ./. 2 31758837 . C . . NT END=31805688;NT GT ./. 2 31779994 rs59697517 CGTGT C 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;PC=0.005;Gene=SRD5A2/NM_000348.3/1;CC=c.281-21162_281-21159delACAC;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:CGTGT,C:6:6:0:3:3,3:83,96:0.00,9.23:0.00,9.38:0.00,-0.15:0.00,0.73:0.00,0.73:0.00,0.67:60,60:61.3,22.7:0,0:0,0:85,66:66,83:27,11:-,NM_000348.3(SRD5A2) c.282-21162_282-21159delACAC:-,NOT_FOUND:-,NOT_FOUND 2 31805619 rs619857 T C 182 nt VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=1264;Gene=SRD5A2/NM_000348.3/1;CC=c.280+71A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:A,C:53:52:0:0:1,52:13,1583:0.31,182.48:0.31,156.73:0.00,25.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,90.2:0,0:0,0:149,35:1,110:0,23:NM_000348.3(SRD5A2) c.281+71A>G,NM_000348.3(SRD5A2) c.281+71A>G:1,1:NOT_FOUND,NOT_FOUND 2 31805675 rs522638 A G 403 nt VT=SNV;PN=A;NN=G;SST=Single;DP=110;DB;DBA=in-clinvar;PAF=A/0.3576,G/0.6424;Gene=SRD5A2/NM_000348.3/1;CC=c.280+15T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:110:98:0:0:110:3511:403.30:314.15:89.15:1.00:1.00:1.00:60:82.1:0:0:39:109:27:NM_000348.3(SRD5A2) c.281+15T>C,NM_000348.3(SRD5A2) c.281+15T>C:0.64,0.64:0.701309,0.701309 2 31805706 rs523349 G C 478 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=132;DB;DBA=in-clinvar;PAF=G/0.3478,C/0.6522;PC=0.022;Gene=SRD5A2/NM_000348.3/1;CC=c.264C>G;ProtCh=p.A88=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:132:114:0:0:131,1:4165,8:478.34,0.05:336.32,0.05:142.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.9,83.0:0,0:0,0:56,55:92,96:25,0:NM_000348.3(SRD5A2) c.265C>G (p.Leu89Val),NM_000348.3(SRD5A2) c.265C>G (p.Leu89Val):0.66,0.66:0.724468,0.724468 2 31805880 rs201096302 A AG 677 PASS VT=INS;SST=Single;DP=200;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3061;Gene=SRD5A2/NM_000348.3/1;CC=c.89dupC;ProtCh=p.P31Sfs*225;VC=FrameShiftIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,AG:200:123:189:0:8,3,189:229,86,6015:0.00,4.55,677.03:0.00,-0.02,285.71:0.00,4.56,391.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.0,41.3,4.4:2,0,0:0,0,0:146,0,68:3,151,81:2,0,36:NM_000348.3(SRD5A2) c.90dupC (p.Ser31Leufs*105),NM_000348.3(SRD5A2) c.90dupC (p.Ser31Leufs*105):1,1:0.999662,0.999662 2 31805970 . C . . NT END=32093429;NT GT ./. 2 31806031 rs632148 C G 287 nt VT=SNV;PN=C;NN=C;SST=Single;DP=78;DB;DBA=in-clinvar;PAF=C/0.3596,G/0.6404;PC=0.933;Gene=SRD5A2/NM_000348.3/1;CC=c.-62G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:78:28:0:0:1,77:11,2510:0.16,287.07:0.16,62.43:0.00,224.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:71.0,37.8:0,0:0,0:100,96:51,52:0,33:NM_000348.3(SRD5A2) c.-62G>C,NM_000348.3(SRD5A2) c.-62G>C:0.64,0.64:NOT_FOUND,NOT_FOUND 2 31806130 rs60274949 G GC 103 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=358;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:GC:30:0:30:0:30:885:102.77:0.00:102.77:1.00:0.00:1.00:60:26.8:0:0:97:52:18:NM_000348.3(SRD5A2) c.-71-u91_-71-u90insG,NM_000348.3(SRD5A2) c.-71-u91_-71-u90insG:1,1:NOT_FOUND,NOT_FOUND 2 31806286 rs62141252 C G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4481,G/0.5519;NP=453 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:116:13.46:0.00:13.46:1.00:0.00:1.00:60:109.5:0:0:105:45:5:NM_000348.3(SRD5A2) c.-71-u246G>C,NM_000348.3(SRD5A2) c.-71-u246G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 31806287 rs62141253 A C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=226 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:125:14.40:0.00:14.40:1.00:0.00:1.00:60:109.5:0:0:106:44:5:NM_000348.3(SRD5A2) c.-71-u247T>G,NM_000348.3(SRD5A2) c.-71-u247T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 31806288 rs62141254 T A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4675,A/0.5325;NP=181;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:106:12.43:0.00:12.43:1.00:0.00:1.00:60:109.5:0:0:107:43:5:NM_000348.3(SRD5A2) c.-71-u248A>T,NM_000348.3(SRD5A2) c.-71-u248A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 31962945 rs67218751 GAC G 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GAC/0.6919,G/0.3081;DB;DBA=NA;PAF=GAC/0.6919,G/0.3081;NP=20;PC=0.641;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:4:4:132:15.11:11.28:3.83:1.00:1.00:1.00:60:34.2:0:0:24:120:12:chr2 g.31962946_31962947delAC (intergenic),chr2 g.31962946_31962947delAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 32093562 . C . . NT END=32094916;NT GT ./. 2 32095022 . C . . NT END=32108454;NT GT ./. 2 32095023 . TA T 9 rn VT=DEL;SST=Single;DP=18;NP=24;PC=1.000;Gene=MEMO1/NM_001137602.2/0;CC=c.589-3delT;VC=Intron;Gene=MEMO1/NM_015955.3/0;CC=c.658-3delT;VC=Intron;Gene=MEMO1/NR_126032.1/0;VC=NonCoding;Gene=MEMO1/NM_001301833.1/1;CC=c.658-3delT;VC=Intron;Gene=MEMO1/NM_001301852.1/0;CC=c.370-3delT;VC=Intron;Gene=MEMO1/NR_126034.1/0;VC=NonCoding;DM=MEMO1/Memo;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:TA,I,T:18:11:1:4:13,1,4:382,34,110:0.00,2.30,8.89:0.00,1.19,5.50:0.00,1.12,3.39:0.00,0.00,0.73:0.00,0.00,0.90:0.00,0.00,0.94:60,60,60:2.5,0.0,64.0:0,0,0:0,0,0:139,78,101:11,31,48:9,0,12:-,NM_015955.2(MEMO1) c.658-3delT:-,NOT_FOUND:-,NOT_FOUND 2 32108532 . C . . NT END=32117060;NT GT ./. 2 32117204 . C . . NT END=32118310;NT GT ./. 2 32118391 . C . . NT END=32142994;NT GT ./. 2 32132855 rs5830217 A AAC 18 sb,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=171;PC=0.001;Gene=MEMO1/NM_001137602.2/0;CC=c.368+10139_368+10140insGT;VC=Intron;Gene=MEMO1/NM_015955.3/0;CC=c.437+10139_437+10140insGT;VC=Intron;Gene=MEMO1/NR_126032.1/0;VC=NonCoding;Gene=MEMO1/NM_001301833.1/1;CC=c.437+10139_437+10140insGT;VC=Intron;Gene=MEMO1/NM_001301852.1/0;CC=c.292+10139_292+10140insGT;VC=Intron;Gene=MEMO1/NR_126034.1/0;VC=NonCoding;DM=MEMO1/Memo;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:AAC:5:5:6:0:5:190:17.69:15.94:1.75:0.99:1.00:0.98:60:16.2:1:0:32:117:14:NM_015955.2(MEMO1) c.437+10139_437+10140insGT,NM_015955.2(MEMO1) c.437+10139_437+10140insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 32143107 . C . . NT END=32145866;NT GT ./. 2 32145980 . C . . NT END=32157135;NT GT ./. 2 32157205 . C . . NT END=32168370;NT GT ./. 2 32168123 rs41280625 C T 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6024,T/0.3976;PC=0.033;Gene=MEMO1/NM_001137602.2/0;CC=c.143+248G>A;VC=Intron;Gene=MEMO1/NM_015955.3/0;CC=c.143+248G>A;VC=Intron;Gene=MEMO1/NR_126032.1/0;VC=NonCoding;Gene=MEMO1/NM_001301833.1/1;CC=c.143+248G>A;VC=Intron;Gene=MEMO1/NM_001301852.1/0;CC=c.-3+248G>A;VC=Intron;Gene=MEMO1/NR_126034.1/0;VC=NonCoding;DM=MEMO1/Memo;DM=MEMO1/Memo GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:34.8:0:0:57:94:30:NM_015955.2(MEMO1) c.143+248G>A,NM_015955.2(MEMO1) c.143+248G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 2 32168453 . C . . NT END=32235255;NT GT ./. 2 32235317 . C . . NT END=32248741;NT GT ./. 2 32248878 . C . . NT END=32248971;NT GT ./. 2 32249326 . C . . NT END=32254662;NT GT ./. 2 32254806 . C . . NT END=32264347;NT GT ./. 2 32255094 rs186160281 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9972,T/0.002796;NP=8;Gene=DPY30/NM_032574.2/1;CC=c.85-289G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,T:6:0:0:0:2,4:48,133:0.00,13.56:0.00,0.00:0.00,13.56:0.00,0.93:0.00,0.00:0.00,0.93:60,60:6.5,47.0:0,0:0,0:109,107:40,41:17,15:-,NM_032574.2(DPY30) c.85-289G>A:-,0.0046:-,NOT_FOUND 2 32264396 . C . . NT END=32264489;NT GT ./. 2 32264526 . G . . NT END=32288900;NT GT ./. 2 32289316 . G . . NT END=32312560;NT GT ./. 2 32312648 . G . . NT END=32314590;NT GT ./. 2 32314675 . G . . NT END=32323864;NT GT ./. 2 32323922 . G A 73 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=51;PC=1.000;Gene=SPAST/NM_014946.3/1;CC=c.644G>A;ProtCh=p.S215N;VC=Missense;Gene=SPAST/NM_199436.1/0;CC=c.586+9248G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:32:0:0:24,27:767,930:72.82,0.00:34.82,0.00:38.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.3,2.4:0,0:0,0:80,70:57,61:35,30:NM_014946.3(SPAST) c.644G>A (p.Ser215Asn),-:NOT_FOUND,-:NOT_FOUND,- 2 32323961 . G . . NT END=32339706;NT GT ./. 2 32339895 . G . . NT END=32340770;NT GT ./. 2 32340026 rs369636307 A AT 7 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4048,AT/0.5952,ATT/.,ATTT/.;DB;DBA=NA;PAF=A/0.4048,AT/0.5952;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.4048,AT/0.5952,ATT/.,ATTT/.;NP=2;PC=0.017;Gene=SPAST/NM_014946.3/1;CC=c.870+150_870+151insT;VC=Intron;Gene=SPAST/NM_199436.1/0;CC=c.774+150_774+151insT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,AT:9:0:4:0:6,3:191,117:0.00,7.33:0.00,0.00:0.00,7.33:0.00,0.62:0.00,0.00:0.00,0.62:60,70:9.3,29.7:0,1:0,0:139,104:10,46:6,11:-,NM_014946.3(SPAST) c.870+132_870+133insT:-,NOT_FOUND:-,NOT_FOUND 2 32340482 rs6543650 C G 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.01917,G/0.9808;Gene=SPAST/NM_014946.3/1;CC=c.871-289C>G;VC=Intron;Gene=SPAST/NM_199436.1/0;CC=c.775-289C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:174:19.78:19.78:0.00:1.00:1.00:0.00:60:46.2:0:0:19:127:5:NM_014946.3(SPAST) c.871-289C>G,NM_014946.3(SPAST) c.871-289C>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 32340905 . G . . NT END=32341187;NT GT ./. 2 32341282 . G . . NT END=32352016;NT GT ./. 2 32352092 . G . . NT END=32353476;NT GT ./. 2 32353549 . G . . NT END=32361631;NT GT ./. 2 32361708 . G . . NT END=32361945;NT GT ./. 2 32362038 . G . . NT END=32362177;NT GT ./. 2 32362258 . G . . NT END=32366972;NT GT ./. 2 32367016 . G . . NT END=32368404;NT GT ./. 2 32368485 . G . . NT END=32370005;NT GT ./. 2 32369901 rs2365556 T C 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.02696,C/0.973;Gene=SPAST/NM_014946.3/1;CC=c.1617-105T>C;VC=Intron;Gene=SPAST/NM_199436.1/0;CC=c.1521-105T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:523:61.26:57.43:3.83:1.00:1.00:1.00:60:31.8:0:0:68:83:44:NM_014946.3(SPAST) c.1617-105T>C,NM_014946.3(SPAST) c.1617-105T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 32370077 . G . . NT END=32372286;NT GT ./. 2 32372328 . G . . NT END=32379442;NT GT ./. 2 32372414 . GT G 11 idl,rn VT=DEL;SST=Single;DP=19;PC=0.002;Gene=SPAST/NM_014946.3/1;CC=c.1728+112delT;VC=Intron;Gene=SPAST/NM_199436.1/0;CC=c.1632+112delT;VC=Intron;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:GT,I,G:16:5:2:7:10,1,5:280,57,173:0.00,1.47,10.57:0.00,-0.07,1.05:0.00,1.54,9.52:0.00,0.00,0.86:0.00,0.00,0.77:0.00,0.00,0.98:60,60,60:9.8,161.0,105.0:0,1,2:0,0,0:125,106,96:25,44,54:21,12,27:-,NM_014946.3(SPAST) c.1728+88delT:-,NOT_FOUND:-,NOT_FOUND 2 32372445 rs142201362 A T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9976,T/0.002396;NP=6;PC=0.001;Gene=SPAST/NM_014946.3/1;CC=c.1728+118A>T;VC=Intron;Gene=SPAST/NM_199436.1/0;CC=c.1632+118A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,T:15:0:0:0:6,9:193,307:0.00,30.61:0.00,0.00:0.00,30.61:0.00,1.00:0.00,0.00:0.00,1.00:60,60:39.8,71.0:0,0:0,0:100,64:47,87:33,32:-,NM_014946.3(SPAST) c.1728+118A>T:-,0.0027:-,NOT_FOUND 2 32379566 . G . . NT END=32390969;NT GT ./. 2 32390973 . G . . NT END=32396355;NT GT ./. 2 32396443 . G . . NT END=32399131;NT GT ./. 2 32399217 . G . . NT END=32400387;NT GT ./. 2 32400431 . G . . NT END=32409341;NT GT ./. 2 32409408 . G . . NT END=32417404;NT GT ./. 2 32417486 . G . . NT END=32417986;NT GT ./. 2 32418023 . G . . NT END=32418957;NT GT ./. 2 32418808 rs212751 T A 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3327,A/0.6673;PC=0.354;Gene=SLC30A6/NM_001193513.1/1;CC=c.522-150T>A;VC=Intron;Gene=SLC30A6/NM_001193514.1/0;CC=c.402-150T>A;VC=Intron;Gene=SLC30A6/NM_001193515.1/0;CC=c.315-150T>A;VC=Intron;Gene=SLC30A6/NM_017964.3/0;CC=c.402-150T>A;VC=Intron;DM=SLC30A6/Cation_efflux;DM=SLC30A6/Cation_efflux GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:260:29.81:29.81:0.00:1.00:1.00:0.00:60:38.4:0:0:37:113:23:NM_001193513.1(SLC30A6) c.522-150T>A,NM_001193513.1(SLC30A6) c.522-150T>A:0.69,0.69:NOT_FOUND,NOT_FOUND 2 32419053 . G . . NT END=32422386;NT GT ./. 2 32422462 . G . . NT END=32422775;NT GT ./. 2 32422896 . G . . NT END=32429658;NT GT ./. 2 32426822 rs212759 T C 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.39,C/0.61;PC=0.001;Gene=SLC30A6/NM_001193513.1/1;CC=c.786-2837T>C;VC=Intron;Gene=SLC30A6/NM_001193514.1/0;CC=c.666-2837T>C;VC=Intron;Gene=SLC30A6/NM_001193515.1/0;CC=c.579-2837T>C;VC=Intron;Gene=SLC30A6/NM_017964.3/0;CC=c.666-2837T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A,C:33:12:0:0:1,32:13,899:0.43,104.45:0.00,39.16:0.43,65.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:70.0,33.9:0,0:0,0:12,56:139,94:0,42:NM_001193513.1(SLC30A6) c.786-2837T>C,NM_001193513.1(SLC30A6) c.786-2837T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 32427092 rs369983441 G GA 10 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=8;PC=0.978;Gene=SLC30A6/NM_001193513.1/1;CC=c.786-2556dupA;VC=Intron;Gene=SLC30A6/NM_001193514.1/0;CC=c.666-2556dupA;VC=Intron;Gene=SLC30A6/NM_001193515.1/0;CC=c.579-2556dupA;VC=Intron;Gene=SLC30A6/NM_017964.3/0;CC=c.666-2556dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,GA,D:28:15:4:1:23,4,1:692,133,34:0.00,10.30,2.07:0.00,6.75,1.09:0.00,3.55,0.98:0.00,0.66,0.00:0.00,0.83,0.00:0.00,0.91,0.00:60,60,60:23.3,0.0,0.0:0,0,0:0,0,0:105,114,113:45,32,38:24,10,0:-,NM_001193513.1(SLC30A6) c.786-2567_786-2566insA:-,NOT_FOUND:-,NOT_FOUND 2 32429497 rs212762 A T 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5162,T/0.4838;PC=0.001;Gene=SLC30A6/NM_001193513.1/1;CC=c.786-162A>T;VC=Intron;Gene=SLC30A6/NM_001193514.1/0;CC=c.666-162A>T;VC=Intron;Gene=SLC30A6/NM_001193515.1/0;CC=c.579-162A>T;VC=Intron;Gene=SLC30A6/NM_017964.3/0;CC=c.666-162A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:185:21.36:21.36:0.00:1.00:1.00:0.00:60:40.5:0:0:65:85:22:NM_001193513.1(SLC30A6) c.786-162A>T,NM_001193513.1(SLC30A6) c.786-162A>T:0.51,0.51:NOT_FOUND,NOT_FOUND 2 32429762 . G . . NT END=32431954;NT GT ./. 2 32429880 rs71407425 A AT 11 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5962,AT/0.4038;DB;DBA=NA;PAF=A/0.5962,AT/0.4038;NP=26;PC=0.047;Gene=SLC30A6/NM_001193513.1/1;CC=c.888+138_888+139insT;VC=Intron;Gene=SLC30A6/NM_001193514.1/0;CC=c.768+138_768+139insT;VC=Intron;Gene=SLC30A6/NM_001193515.1/0;CC=c.681+138_681+139insT;VC=Intron;Gene=SLC30A6/NM_017964.3/0;CC=c.768+138_768+139insT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,AT,D:12:0:6:1:7,4,1:222,181,33:0.00,11.41,2.41:0.00,0.00,0.00:0.00,11.41,2.41:0.00,0.77,0.00:0.00,0.00,0.00:0.00,0.77,0.00:60,60,60:32.6,50.5,0.0:0,2,0:0,0,0:136,102,125:15,49,25:10,3,0:-,NM_001193513.1(SLC30A6) c.888+119_888+120insT:-,NOT_FOUND:-,NOT_FOUND 2 32432003 . G . . NT END=32434561;NT GT ./. 2 32434631 . G . . NT END=32445281;NT GT ./. 2 32434701 rs212685 A G 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3305,G/0.6695;Gene=SLC30A6/NM_001193513.1/1;CC=c.1005+71A>G;VC=Intron;Gene=SLC30A6/NM_001193514.1/0;CC=c.816+2699A>G;VC=Intron;Gene=SLC30A6/NM_001193515.1/0;CC=c.798+71A>G;VC=Intron;Gene=SLC30A6/NM_017964.3/0;CC=c.885+71A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:10:0:0:22:719:82.37:22.75:59.62:1.00:1.00:1.00:60:36.8:0:0:117:33:20:NM_001193513.1(SLC30A6) c.1005+71A>G,NM_001193513.1(SLC30A6) c.1005+71A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 2 32445783 . T . . NT END=32449541;NT GT ./. 2 32449835 . C . . NT END=32460469;NT GT ./. 2 32449871 rs570325678 AT A 35 idl,rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;Gene=NLRC4/NM_001199138.1/0;CC=c.2783-38delA;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2783-38delA;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.788-38delA;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2783-38delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:23:8:0:14:11,12:315,431:0.00,35.08:0.00,7.72:0.00,27.36:0.00,1.00:0.00,0.99:0.00,1.00:60,60:49.5,128.4:2,2:0,0:127,89:5,62:16,22:-,NM_021209.4(NLRC4) c.2783-38delA:-,NOT_FOUND:-,NOT_FOUND 2 32449877 rs2366742 T A 52 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5905,A/0.4095;NP=4;Gene=NLRC4/NM_001199138.1/0;CC=c.2783-43A>T;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2783-43A>T;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.788-43A>T;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2783-43A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,T:18:3:0:0:16,2:473,67:52.11,0.00:9.36,0.00:42.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:124.3,71.5:13,1:0,0:94,67:57,72:22,36:NM_021209.4(NLRC4) c.2783-43A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 32449878 rs199847843 T A 61 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5531,A/0.4469;NP=6;Gene=NLRC4/NM_001199138.1/0;CC=c.2783-44A>T;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2783-44A>T;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.788-44A>T;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2783-44A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,T:18:3:0:0:17,1:544,33:60.83,0.00:9.63,0.00:51.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:121.0,75.0:14,0:0,0:94,105:57,24:22,0:NM_021209.4(NLRC4) c.2783-44A>T,NM_021209.4(NLRC4) c.2783-44A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 32449879 rs200950944 T A 62 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5128,A/0.4872;NP=274;PC=0.001;Gene=NLRC4/NM_001199138.1/0;CC=c.2783-45A>T;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2783-45A>T;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.788-45A>T;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2783-45A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,T:18:3:0:0:17,1:551,33:61.53,0.00:9.63,0.00:51.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:121.0,75.0:1,0:0,0:95,106:56,23:22,0:NM_021209.4(NLRC4) c.2783-45A>T,NM_021209.4(NLRC4) c.2783-45A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 32460348 rs212714 A G 72 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4291,G/0.5709;PC=0.003;Gene=NLRC4/NM_001199138.1/0;CC=c.2782+122T>C;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2782+122T>C;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.787+122T>C;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2782+122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:20:0:0:21:625:72.39:66.97:5.42:1.00:1.00:1.00:60:38.0:0:0:45:106:35:NM_021209.4(NLRC4) c.2782+122T>C,NM_021209.4(NLRC4) c.2782+122T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 32460638 . C . . NT END=32461315;NT GT ./. 2 32460886 rs212715 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4862,G/0.5138;Gene=NLRC4/NM_001199138.1/0;CC=c.2615-249G>C;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2615-249G>C;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.620-249G>C;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2615-249G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:55.8:0:0:113:37:15:NM_021209.4(NLRC4) c.2615-249G>C,NM_021209.4(NLRC4) c.2615-249G>C:0.54,0.54:NOT_FOUND,NOT_FOUND 2 32460934 rs212716 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4862,G/0.5138;PC=0.001;Gene=NLRC4/NM_001199138.1/0;CC=c.2615-297T>C;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2615-297T>C;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.620-297T>C;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2615-297T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:124:14.31:3.58:10.73:1.00:1.00:1.00:60:57.5:0:0:83:67:63:NM_021209.4(NLRC4) c.2615-297T>C,NM_021209.4(NLRC4) c.2615-297T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 2 32461409 . C . . NT END=32463200;NT GT ./. 2 32461493 rs55638726 T TC 22 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2516;Gene=NLRC4/NM_001199138.1/0;CC=c.2522-86_2522-85insG;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2522-86_2522-85insG;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.527-86_527-85insG;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2522-86_2522-85insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TC:6:0:6:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:4.5:0:0:99:51:37:NM_021209.4(NLRC4) c.2522-86_2522-85insG,NM_021209.4(NLRC4) c.2522-86_2522-85insG:0.99,0.99:NOT_FOUND,NOT_FOUND 2 32463372 . C . . NT END=32466101;NT GT ./. 2 32466029 rs212721 A G 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4006,G/0.5994;PC=0.002;Gene=NLRC4/NM_001199138.1/0;CC=c.2350+73T>C;VC=Intron;Gene=NLRC4/NM_001199139.1/0;CC=c.2350+73T>C;VC=Intron;Gene=NLRC4/NM_001302504.1/0;CC=c.355+73T>C;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.2350+73T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:510:58.15:58.15:0.00:1.00:1.00:0.00:60:36.9:0:0:48:103:29:NM_021209.4(NLRC4) c.2350+73T>C,NM_021209.4(NLRC4) c.2350+73T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 32466195 . C . . NT END=32474675;NT GT ./. 2 32475109 rs455060 G A 425 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.4077,A/0.5923;PC=0.602;Gene=NLRC4/NM_001199138.1/0;CC=c.1824C>T;ProtCh=p.A608=;VC=Silent;Gene=NLRC4/NM_001199139.1/0;CC=c.1824C>T;ProtCh=p.A608=;VC=Silent;Gene=NLRC4/NM_001302504.1/0;CC=c.262+2379C>T;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.1824C>T;ProtCh=p.A608=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:112:65:0:0:112:3719:425.15:174.70:250.45:1.00:1.00:1.00:60:41.3:0:0:79:66:39:NM_021209.4(NLRC4) c.1824C>T (p.(=)),NM_021209.4(NLRC4) c.1824C>T (p.(=)):0.6,0.6:0.629709,0.629709 2 32476390 rs408813 T G 462 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.4844,C/.,G/0.5156;PC=0.999;Gene=NLRC4/NM_001199138.1/0;CC=c.543A>C;ProtCh=p.R181=;VC=Silent;Gene=NLRC4/NM_001199139.1/0;CC=c.543A>C;ProtCh=p.R181=;VC=Silent;Gene=NLRC4/NM_001302504.1/0;CC=c.262+1098A>C;VC=Intron;Gene=NLRC4/NM_021209.4/1;CC=c.543A>C;ProtCh=p.R181=;VC=Silent;DM=NLRC4/NACHT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:120:78:0:0:1,119:9,4057:0.06,461.95:0.00,252.42:0.06,209.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:92.0,39.9:0,0:0,0:86,90:65,59:0,34:NM_021209.4(NLRC4) c.543A>C (p.(=)),NM_021209.4(NLRC4) c.543A>C (p.(=)):0.54,0.54:0.587652,0.587652 2 32476671 . C . . NT END=32477487;NT GT ./. 2 32477749 . C . . NT END=32503224;NT GT ./. 2 32503304 . G . . NT END=32515551;NT GT ./. 2 32503526 rs398290 T C 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4205,C/0.5795;Gene=YIPF4/NM_032312.3/1;CC=c.79+223T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:206:23.46:0.00:23.46:1.00:0.00:1.00:60:47.8:0:0:68:82:40:NM_032312.3(YIPF4) c.79+223T>C,NM_032312.3(YIPF4) c.79+223T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 32515398 rs458628 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4385,A/0.5615;Gene=YIPF4/NM_032312.3/1;CC=c.80-154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:378:43.52:43.52:0.00:1.00:1.00:0.00:60:40.2:0:0:30:119:16:NM_032312.3(YIPF4) c.80-154G>A,NM_032312.3(YIPF4) c.80-154G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 32515706 . G . . NT END=32517245;NT GT ./. 2 32517418 . G . . NT END=32523302;NT GT ./. 2 32523381 . G . . NT END=32526450;NT GT ./. 2 32526565 . G . . NT END=32530557;NT GT ./. 2 32531207 rs397689196 CTT C 184 PASS VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=CTT/0.6615,C/0.3385;DB;DBA=NA;PAF=CTT/0.6615,C/0.3385;NP=17;PC=0.426;Gene=YIPF4/NM_032312.3/1;CC=c.*516_*517delTT;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:CTT,C:54:33:0:52:2,52:57,1632:0.00,184.28:0.00,103.54:0.00,80.74:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,10.9:0,0:0,0:148,67:2,83:1,24:NM_032312.3(YIPF4) c.*513T[3],NM_032312.3(YIPF4) c.*513T[3]:0.38,0.38:NOT_FOUND,NOT_FOUND 2 32531659 . C . . NT END=32532172;NT GT ./. 2 32532221 . A . . NT END=32582229;NT GT ./. 2 32582555 . G . . NT END=32602655;NT GT ./. 2 32602838 . G . . NT END=32605220;NT GT ./. 2 32605359 . G . . NT END=32613817;NT GT ./. 2 32614012 . G . . NT END=32617106;NT GT ./. 2 32614191 rs6734595 G A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9677,A/0.03235;Gene=BIRC6/NM_016252.3/1;CC=c.839+180G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,G:10:0:0:0:4,6:107,205:9.67,0.00:0.00,0.00:9.67,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:64.2,5.8:0,0:0,0:113,110:38,40:18,21:NM_016252.3(BIRC6) c.839+180G>A,-:0.04,-:NOT_FOUND,- 2 32617219 . G . . NT END=32620578;NT GT ./. 2 32620662 . G . . NT END=32626230;NT GT ./. 2 32626454 . G . . NT END=32626530;NT GT ./. 2 32626692 . G . . NT END=32631566;NT GT ./. 2 32631626 . G . . NT END=32639836;NT GT ./. 2 32641232 . G . . NT END=32654213;NT GT ./. 2 32654364 . G . . NT END=32655932;NT GT ./. 2 32655873 rs367657542 C CT 25 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.002;Gene=BIRC6/NM_016252.3/1;CC=c.3023-39_3023-38insT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:17:18:9:1:8,8,1:237,292,33:0.00,24.77,2.33:0.00,23.15,2.33:0.00,1.61,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.63,0.00:60,60,60:42.0,110.2,76.0:0,1,0:0,0,0:97,49,29:23,94,94:21,33,0:-,NM_016252.3(BIRC6) c.3023-60_3023-59insT:-,NOT_FOUND:-,NOT_FOUND 2 32655915 . G T 9 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;Gene=BIRC6/NM_016252.3/1;CC=c.3023-18G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:G,T:31:26:0:0:23,8:738,128:0.00,8.93:0.00,9.96:0.00,-1.04:0.00,0.98:0.00,1.00:0.00,0.93:60,60:10.2,100.6:0,0:0,0:15,70:128,66:8,22:-,NM_016252.3(BIRC6) c.3023-18G>T:-,NOT_FOUND:-,NOT_FOUND 2 32656159 . G . . NT END=32658711;NT GT ./. 2 32658873 . G . . NT END=32660521;NT GT ./. 2 32660654 . G . . NT END=32661120;NT GT ./. 2 32661253 . G . . NT END=32664575;NT GT ./. 2 32664265 rs35308115 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01318,G/0.9868;DB;DBA=NA;PAF=NA;PC=0.003;Gene=BIRC6/NM_016252.3/1;CC=c.3632-311A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:142:16.54:12.61:3.93:1.00:1.00:1.00:60:59.0:0:0:44:87:19:NM_016252.3(BIRC6) c.3632-311A>G,NM_016252.3(BIRC6) c.3632-311A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 32664755 . G . . NT END=32666396;NT GT ./. 2 32666137 rs13409142 C T 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4325,T/0.5675;Gene=BIRC6/NM_016252.3/1;CC=c.3811-260C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:31.2:0:0:50:100:13:NM_016252.3(BIRC6) c.3811-260C>T,NM_016252.3(BIRC6) c.3811-260C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 2 32666531 . G . . NT END=32667132;NT GT ./. 2 32667058 rs55734616 C A 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=3404;PC=0.005;Gene=BIRC6/NM_016252.3/1;CC=c.3945-75C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:20:0:0:23:763:87.27:69.82:17.45:1.00:1.00:1.00:60:82.2:0:0:55:96:34:NM_016252.3(BIRC6) c.3945-75C>A,NM_016252.3(BIRC6) c.3945-75C>A:1,1:NOT_FOUND,NOT_FOUND 2 32667061 rs60955793 T A 86 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=3420;Gene=BIRC6/NM_016252.3/1;CC=c.3945-72T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:20:0:0:23:753:86.27:67.38:18.88:1.00:1.00:1.00:60:81.8:0:0:58:93:34:NM_016252.3(BIRC6) c.3945-72T>A,NM_016252.3(BIRC6) c.3945-72T>A:1,1:NOT_FOUND,NOT_FOUND 2 32667182 rs60197615 G C 253 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=3484;PC=1.000;Gene=BIRC6/NM_016252.3/1;CC=c.3994G>C;ProtCh=p.V1332L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:A,C,G:68:54:0:0:1,66,1:8,2241,10:0.08,253.49,0.00:0.08,155.39,0.00:0.00,98.10,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:155.0,45.9,136.0:0,0,0:0,0,0:13,52,64:137,92,54:0,30,0:NM_016252.3(BIRC6) c.=,NM_016252.3(BIRC6) c.=:1,1:NOT_FOUND,NOT_FOUND 2 32667295 . G . . NT END=32667391;NT GT ./. 2 32667524 . G . . NT END=32668558;NT GT ./. 2 32668657 . G . . NT END=32670588;NT GT ./. 2 32670737 . G . . NT END=32673862;NT GT ./. 2 32673997 . G . . NT END=32678875;NT GT ./. 2 32679023 . G . . NT END=32688261;NT GT ./. 2 32688450 . G . . NT END=32689576;NT GT ./. 2 32688601 rs762019 A C 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5683,C/0.4317;PC=0.998;Gene=BIRC6/NM_016252.3/1;CC=c.4941+152A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,C:10:0:0:0:1,9:8,279:0.00,30.94:0.00,0.00:0.00,30.94:0.00,1.00:0.00,0.00:0.00,1.00:60,60:118.0,37.2:0,0:0,0:42,77:98,74:0,39:NM_016252.3(BIRC6) c.4941+152A>C,NM_016252.3(BIRC6) c.4941+152A>C:0.48,0.48:NOT_FOUND,NOT_FOUND 2 32689892 . G . . NT END=32690132;NT GT ./. 2 32690109 rs187901351 A AT 14 rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=1;Gene=BIRC6/NM_016252.3/1;CC=c.5257-12dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,AT,D:47:24:6:3:38,6,3:1170,189,99:0.00,14.16,6.66:0.00,4.14,-0.55:0.00,10.02,7.21:0.00,0.86,0.00:0.00,0.91,0.00:0.00,0.94,0.00:60,60,60:9.5,11.5,0.0:0,0,0:0,0,0:69,45,124:78,104,26:27,38,5:-,NM_016252.3(BIRC6) c.5257-24_5257-23insT:-,NOT_FOUND:-,NOT_FOUND 2 32690233 . G . . NT END=32692592;NT GT ./. 2 32690317 . ATT A 8 rn VT=DEL;SST=Single;DP=9;Gene=BIRC6/NM_016252.3/1;CC=c.5356+104_5356+105delTT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:ATT,I,A:9:0:1:4:5,1,3:134,27,88:0.00,1.97,7.93:0.00,0.00,0.00:0.00,1.97,7.93:0.00,0.00,0.64:0.00,0.00,0.00:0.00,0.00,0.64:60,60,60:26.4,83.0,71.7:0,0,0:0,0,0:135,81,79:15,69,71:5,0,11:-,NM_016252.3(BIRC6) c.5356+86_5356+87delTT:-,NOT_FOUND:-,NOT_FOUND 2 32692808 . G . . NT END=32692970;NT GT ./. 2 32693180 . G . . NT END=32693504;NT GT ./. 2 32693852 . G . . NT END=32694462;NT GT ./. 2 32694683 . G . . NT END=32695235;NT GT ./. 2 32695026 rs79270452 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9565,G/0.04353;Gene=BIRC6/NM_016252.3/1;CC=c.6348-210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:10:10:0:0:6,4:184,106:0.00,9.59:0.00,9.59:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:31.2,40.5:0,0:0,0:73,48:77,102:21,23:-,NM_016252.3(BIRC6) c.6348-210A>G:-,0.05:-,NOT_FOUND 2 32695370 . G . . NT END=32696081;NT GT ./. 2 32696220 . G . . NT END=32698179;NT GT ./. 2 32696502 rs4952214 T G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=60;Gene=BIRC6/NM_016252.3/1;CC=c.6592+310T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:166:19.42:0.00:19.42:1.00:0.00:1.00:60:33.0:0:0:88:61:13:NM_016252.3(BIRC6) c.6592+310T>G,NM_016252.3(BIRC6) c.6592+310T>G:1,1:NOT_FOUND,NOT_FOUND 2 32698308 . G . . NT END=32701280;NT GT ./. 2 32701413 . G . . NT END=32702435;NT GT ./. 2 32702652 . G . . NT END=32703702;NT GT ./. 2 32703887 . G . . NT END=32704529;NT GT ./. 2 32704686 . G . . NT END=32706387;NT GT ./. 2 32706522 . G . . NT END=32707496;NT GT ./. 2 32706579 rs9646977 T A 112 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=2549;PC=0.047;Gene=BIRC6/NM_016252.3/1;CC=c.7542+58T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:10:0:0:31:973:112.07:20.10:91.97:1.00:1.00:1.00:60:45.5:0:0:97:49:25:NM_016252.3(BIRC6) c.7542+58T>A,NM_016252.3(BIRC6) c.7542+58T>A:1,1:NOT_FOUND,NOT_FOUND 2 32707651 . G . . NT END=32710709;NT GT ./. 2 32710827 . G . . NT END=32712713;NT GT ./. 2 32712869 . G . . NT END=32713654;NT GT ./. 2 32712875 rs2366891 A C 154 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=3482;PC=0.003;Gene=BIRC6/NM_016252.3/1;CC=c.7968+7A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:11:0:0:41:1345:154.00:25.10:128.90:1.00:1.00:1.00:60:37.3:0:0:82:63:35:NM_016252.3(BIRC6) c.7968+7A>C,NM_016252.3(BIRC6) c.7968+7A>C:1,1:NOT_FOUND,NOT_FOUND 2 32713706 rs2366894 A T 121 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4391,T/0.5609;PC=0.994;Gene=BIRC6/NM_016252.3/1;CC=c.8020A>T;ProtCh=p.T2674S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:24:0:0:33:1055:121.18:64.14:57.05:1.00:1.00:1.00:60:39.2:0:0:54:85:35:NM_016252.3(BIRC6) c.8020A>T (p.Thr2674Ser),NM_016252.3(BIRC6) c.8020A>T (p.Thr2674Ser):0.58,0.58:0.658698,0.658698 2 32713782 . G . . NT END=32715107;NT GT ./. 2 32715219 . G . . NT END=32716491;NT GT ./. 2 32716626 . G . . NT END=32718606;NT GT ./. 2 32718735 . G . . NT END=32724613;NT GT ./. 2 32718849 rs6543658 G A 43 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4361,A/0.5639;Gene=BIRC6/NM_016252.3/1;CC=c.8468+115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:1:0:0:11:379:43.15:1.89:41.26:1.00:1.00:1.00:60:36.0:0:0:119:30:25:NM_016252.3(BIRC6) c.8468+115G>A,NM_016252.3(BIRC6) c.8468+115G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 32725177 . G . . NT END=32726779;NT GT ./. 2 32725308 . TA T 9 nt VT=DEL;SST=Single;DP=8;PC=0.866;Gene=BIRC6/NM_016252.3/1;CC=c.9031+133delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:TA,T:8:0:0:3:5,3:159,101:0.00,9.23:0.00,0.00:0.00,9.23:0.00,0.67:0.00,0.00:0.00,0.67:60,60:0.0,24.7:0,0:0,0:122,86:28,65:25,3:-,NM_016252.3(BIRC6) c.9031+133delA:-,NOT_FOUND:-,NOT_FOUND 2 32726956 . G . . NT END=32727861;NT GT ./. 2 32727959 . G . . NT END=32728108;NT GT ./. 2 32728304 . G . . NT END=32730071;NT GT ./. 2 32728475 rs146429810 CTTTGTTTG C 21 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=18;PC=0.035;Gene=BIRC6/NM_016252.3/1;CC=c.9499+196_9499+203delGTTTGTTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:CTTTGTTTG,C:7:0:0:6:1,6:27,193:0.00,20.92:0.00,0.00:0.00,20.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,0.0:0,0:0,0:147,85:3,65:0,16:-,NM_016252.3(BIRC6) c.9499+173_9499+180delTTTGTTTG:-,NOT_FOUND:-,NOT_FOUND 2 32730273 . G . . NT END=32733046;NT GT ./. 2 32733327 . G . . NT END=32734804;NT GT ./. 2 32735062 . G . . NT END=32735592;NT GT ./. 2 32735702 . G . . NT END=32737999;NT GT ./. 2 32738222 . G . . NT END=32740056;NT GT ./. 2 32740138 rs34757266 T C 86 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.9647,C/0.03534;PC=0.994;Gene=BIRC6/NM_016252.3/1;CC=c.10650T>C;ProtCh=p.C3550=;VC=Silent;DM=BIRC6/DUF3643 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:44:0:0:27,29:901,908:86.15,0.00:55.92,0.00:30.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,12.8:0,0:0,0:91,64:46,84:34,29:NM_016252.3(BIRC6) c.10650T>C (p.(=)),-:0.05,-:0.083346,- 2 32740838 . G . . NT END=32743320;NT GT ./. 2 32743084 rs2069213 C T 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4113,T/0.5887;Gene=BIRC6/NM_016252.3/1;CC=c.11350-237C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:250:28.81:28.81:0.00:1.00:1.00:0.00:60:43.6:0:0:48:93:10:NM_016252.3(BIRC6) c.11350-237C>T,NM_016252.3(BIRC6) c.11350-237C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 2 32743465 . G . . NT END=32743883;NT GT ./. 2 32744014 . G . . NT END=32749954;NT GT ./. 2 32749880 rs2710609 C T 65 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=68;Gene=BIRC6/NM_016252.3/1;CC=c.11624-75C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:16:0:0:18:561:64.65:55.20:9.45:1.00:1.00:1.00:60:119.5:0:0:36:113:21:NM_016252.3(BIRC6) c.11624-75C>T,NM_016252.3(BIRC6) c.11624-75C>T:1,1:NOT_FOUND,NOT_FOUND 2 32749890 rs2710610 C T 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=34;Gene=BIRC6/NM_016252.3/1;CC=c.11624-65C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:16:0:0:18:551:63.55:54.48:9.07:1.00:1.00:1.00:60:122.9:0:0:46:103:24:NM_016252.3(BIRC6) c.11624-65C>T,NM_016252.3(BIRC6) c.11624-65C>T:1,1:NOT_FOUND,NOT_FOUND 2 32749893 rs2710611 A T 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=47;Gene=BIRC6/NM_016252.3/1;CC=c.11624-62A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:16:0:0:18:556:64.15:54.85:9.30:1.00:1.00:1.00:60:123.1:0:0:46:102:18:NM_016252.3(BIRC6) c.11624-62A>T,NM_016252.3(BIRC6) c.11624-62A>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 32749903 rs2710612 T C 65 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=335;Gene=BIRC6/NM_016252.3/1;CC=c.11624-52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:18:0:0:20:553:64.71:53.98:10.73:1.00:1.00:1.00:60:111.8:0:0:52:98:24:NM_016252.3(BIRC6) c.11624-52T>C,NM_016252.3(BIRC6) c.11624-52T>C:1,1:NOT_FOUND,NOT_FOUND 2 32750087 . G . . NT END=32750530;NT GT ./. 2 32750696 . G . . NT END=32754717;NT GT ./. 2 32750879 rs2249109 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4365,A/0.5635;Gene=BIRC6/NM_016252.3/1;CC=c.11920+184G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:144:16.76:0.00:16.76:1.00:0.00:1.00:60:32.4:0:0:116:35:24:NM_016252.3(BIRC6) c.11920+184G>A,NM_016252.3(BIRC6) c.11920+184G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 32754515 rs541981024 C A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3;Gene=BIRC6/NM_016252.3/1;CC=c.11921-203C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C:7:7:0:0:4,3:129,100:12.73,0.00:12.73,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:34.8,3.3:0,0:0,0:55,105:95,46:8,34:NM_016252.3(BIRC6) c.11921-203C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 32754892 . G . . NT END=32756421;NT GT ./. 2 32756619 . G . . NT END=32768307;NT GT ./. 2 32768140 rs2710631 A T 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=BIRC6/NM_016252.3/1;CC=c.12292-168A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:316:36.37:36.37:0.00:1.00:1.00:0.00:60:39.5:0:0:69:81:20:NM_016252.3(BIRC6) c.12292-168A>T,NM_016252.3(BIRC6) c.12292-168A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 32768609 . G . . NT END=32770709;NT GT ./. 2 32768797 rs2254106 G A 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5954,A/0.4046;Gene=BIRC6/NM_016252.3/1;CC=c.12592+189G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:295:33.79:0.00:33.79:1.00:0.00:1.00:60:38.6:0:0:108:42:27:NM_016252.3(BIRC6) c.12592+189G>A,NM_016252.3(BIRC6) c.12592+189G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 2 32770928 . G . . NT END=32772916;NT GT ./. 2 32773082 . G . . NT END=32774379;NT GT ./. 2 32774549 . G . . NT END=32800222;NT GT ./. 2 32800434 . G . . NT END=32815872;NT GT ./. 2 32816046 . G . . NT END=32818981;NT GT ./. 2 32819128 . G . . NT END=32820100;NT GT ./. 2 32820212 . G . . NT END=32822817;NT GT ./. 2 32822729 rs2583713 A G 57 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6967,G/0.3033;Gene=BIRC6/NM_016252.3/1;CC=c.13613-89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:17:0:0:17:492:57.25:55.41:1.84:1.00:1.00:1.00:60:42.2:0:0:28:123:9:NM_016252.3(BIRC6) c.13613-89A>G,NM_016252.3(BIRC6) c.13613-89A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 2 32822957 rs2710625 G A 245 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.6671,A/0.3329;Gene=BIRC6/NM_016252.3/1;CC=c.13752G>A;ProtCh=p.T4584=;VC=Silent;DM=BIRC6/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:42:0:0:67:2128:244.60:117.40:127.20:1.00:1.00:1.00:60:36.3:0:0:68:76:33:NM_016252.3(BIRC6) c.13752G>A (p.(=)),NM_016252.3(BIRC6) c.13752G>A (p.(=)):0.37,0.37:0.38736,0.38736 2 32823036 . G . . NT END=32824805;NT GT ./. 2 32824968 . G . . NT END=32828072;NT GT ./. 2 32828151 . G . . NT END=32832521;NT GT ./. 2 32832711 . G . . NT END=32836514;NT GT ./. 2 32836650 . G . . NT END=32842791;NT GT ./. 2 32842972 . G . . NT END=32853359;NT GT ./. 2 32843294 rs66698122 TA T 8 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TA/0.2706,T/0.7294;NP=17;PC=1.000;Gene=BIRC6/NM_016252.3/1;CC=c.*324delA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:TA,T:6:0:0:3:3,3:89,87:0.00,8.32:0.00,0.00:0.00,8.32:0.00,0.73:0.00,0.00:0.00,0.73:60,60:32.7,6.7:0,0:0,0:147,116:4,35:0,16:-,NM_016252.3(BIRC6) c.*324delA:-,0.76:-,NOT_FOUND 2 32853448 . G . . NT END=32855589;NT GT ./. 2 32855615 rs2710623 A G 277 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.01218,G/0.9878;PC=0.731;Gene=TTC27/NM_001193509.1/0;CC=c.-37A>G;VC=5UTR;Gene=TTC27/NM_017735.4/1;CC=c.114A>G;ProtCh=p.L38=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:72:59:0:0:72:2425:276.75:186.63:90.12:1.00:1.00:1.00:60:38.3:0:0:71:75:34:NM_017735.4(TTC27) c.=,NM_017735.4(TTC27) c.=:0.99,0.99:0.988771,0.988771 2 32855768 . G . . NT END=32858942;NT GT ./. 2 32858637 rs4952343 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6504,G/0.3496;Gene=TTC27/NM_001193509.1/0;CC=c.117-306A>G;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.267-306A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:34.5:0:0:36:114:20:NM_017735.4(TTC27) c.267-306A>G,NM_017735.4(TTC27) c.267-306A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 2 32858797 . A AT 8 rn VT=INS;SST=Single;DP=26;NP=1;Gene=TTC27/NM_001193509.1/0;CC=c.117-135dupT;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.267-135dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,AT,D:26:26:4:2:20,4,2:628,112,66:0.00,8.41,4.63:0.00,8.41,4.63:0.00,0.00,0.00:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.00,0.00:60,60,60:20.4,39.8,0.0:0,0,0:0,0,0:40,75,54:110,74,96:25,35,45:-,NM_017735.4(TTC27) c.267-146_267-145insT:-,NOT_FOUND:-,NOT_FOUND 2 32859073 . G . . NT END=32865336;NT GT ./. 2 32865478 . G . . NT END=32875197;NT GT ./. 2 32875301 . G . . NT END=32889369;NT GT ./. 2 32889535 . G . . NT END=32891701;NT GT ./. 2 32891836 . G . . NT END=32897338;NT GT ./. 2 32892036 rs5830236 GT G 38 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GT/0.2692,G/0.7308;DB;DBA=NA;PAF=GT/0.2692,G/0.7308;NP=282;Gene=TTC27/NM_001193509.1/0;CC=c.789+211delT;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.939+211delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:GT,G:12:0:0:11:1,11:33,345:0.00,38.25:0.00,0.00:0.00,38.25:0.00,1.00:0.00,0.00:0.00,1.00:60,70:31.0,5.0:0,0:0,0:140,121:10,28:0,14:-,NM_017735.4(TTC27) c.939+202delT:-,NOT_FOUND:-,NOT_FOUND 2 32897206 rs45494293 A C 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9581,C/0.04193;Gene=TTC27/NM_001193509.1/0;CC=c.790-133A>C;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.940-133A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,C:9:9:0:0:2,7:70,231:0.00,24.37:0.00,24.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.0,34.4:0,0:0,0:95,30:54,121:27,8:-,NM_017735.4(TTC27) c.940-133A>C:-,0.05:-,NOT_FOUND 2 32897452 . G . . NT END=32903922;NT GT ./. 2 32903990 . G . . NT END=32927873;NT GT ./. 2 32927863 rs2273659 G A 91 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7927,A/0.2073,T/.;Gene=TTC27/NM_001193509.1/0;CC=c.970-11G>A;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1120-11G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:52:0:0:30,29:945,878:91.07,0.00:55.42,0.00:35.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,5.0:0,0:0,0:47,25:103,103:22,21:NM_017735.4(TTC27) c.1120-11G>A,-:0.18,-:0.163309,- 2 32927988 . G . . NT END=32958894;NT GT ./. 2 32958838 rs3830967 CTT C 54 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=CTT/0.7959,C/0.2041;NP=995;Gene=TTC27/NM_001193509.1/0;CC=c.1084-56_1084-55delTT;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1234-56_1234-55delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:30:28:0:17:13,17:422,550:0.00,54.21:0.00,44.19:0.00,10.03:0.00,1.00:0.00,1.00:0.00,0.99:60,60:3.5,4.6:0,0:0,0:55,33:95,118:15,22:-,NM_017735.4(TTC27) c.1234-56_1234-55delTT:-,0.17:-,NOT_FOUND 2 32958991 . G . . NT END=32961760;NT GT ./. 2 32959024 rs1551177 T C 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5795,C/0.4205;PC=0.001;Gene=TTC27/NM_001193509.1/0;CC=c.1179+34T>C;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1329+34T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:8:0:0:10,20:354,645:31.88,0.00:8.41,0.00:23.47,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:36.1,16.4:0,0:0,0:105,107:45,41:12,21:NM_017735.4(TTC27) c.1329+34T>C,-:0.46,-:0.486468,- 2 32959075 rs3818266 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7953,A/0.2047;Gene=TTC27/NM_001193509.1/0;CC=c.1179+85G>A;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1329+85G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:1:0:0:9,7:299,228:29.43,0.00:-0.18,0.00:29.61,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:41.7,20.0:0,0:0,0:119,76:29,74:14,48:NM_017735.4(TTC27) c.1329+85G>A,-:0.17,-:NOT_FOUND,- 2 32961540 rs12624166 A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5046,G/0.4954;Gene=TTC27/NM_001193509.1/0;CC=c.1180-221A>G;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1330-221A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:7:7:0:0:4,3:131,98:0.00,9.16:0.00,9.16:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:7.8,103.3:0,0:0,0:39,21:111,130:6,2:-,NM_017735.4(TTC27) c.1330-221A>G:-,0.45:-,NOT_FOUND 2 32961691 rs17497801 C T 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.7089,T/0.2911;Gene=TTC27/NM_001193509.1/0;CC=c.1180-70C>T;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1330-70C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:38:0:0:22,18:723,557:0.00,52.32:0.00,47.78:0.00,4.55:0.00,1.00:0.00,1.00:0.00,0.96:60,60:27.9,63.4:0,0:0,0:52,62:97,88:21,35:-,NM_017735.4(TTC27) c.1330-70C>T:-,0.33:-,NOT_FOUND 2 32961745 rs10200333 T A 255 nt VT=SNV;PN=T;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.009784,A/0.9902,G/.;NP=3469;PC=0.003;Gene=TTC27/NM_001193509.1/0;CC=c.1180-16T>A;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1330-16T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:71:59:0:0:71:2211:254.75:188.57:66.18:1.00:1.00:1.00:60:39.6:0:0:50:96:34:NM_017735.4(TTC27) c.1330-16T>A,NM_017735.4(TTC27) c.1330-16T>A:0.99,0.99:0.990389,0.990389 2 32961884 . G . . NT END=32983358;NT GT ./. 2 32962066 rs2273661 T C 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.626,C/0.374;PC=0.995;Gene=TTC27/NM_001193509.1/0;CC=c.1302+183T>C;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1452+183T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:1:0:0:12,10:383,321:37.42,0.00:1.86,0.00:35.56,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:46.0,7.9:0,0:0,0:97,108:51,42:25,32:NM_017735.4(TTC27) c.1452+183T>C,-:0.4,-:NOT_FOUND,- 2 32983526 rs2273665 C T 178 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.7071,T/0.2929;PC=1.000;Gene=TTC27/NM_001193509.1/0;CC=c.1470C>T;ProtCh=p.N490=;VC=Silent;Gene=TTC27/NM_017735.4/1;CC=c.1620C>T;ProtCh=p.N540=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:117:57:0:0:57,60:1870,1846:0.00,177.92:0.00,58.99:0.00,118.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,38.4:0,0:0,0:80,71:68,78:38,34:-,NM_017735.4(TTC27) c.1620C>T (p.(=)):-,0.34:-,0.342227 2 32983587 . G . . NT END=33002948;NT GT ./. 2 33002739 rs1022719 T G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4888,G/0.5112;PC=0.001;Gene=TTC27/NM_001193509.1/0;CC=c.1531-210T>G;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1681-210T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:G,T:7:7:0:0:3,4:94,140:8.75,0.00:8.75,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:48.7,29.0:0,0:0,0:25,67:126,83:6,18:NM_017735.4(TTC27) c.1681-210T>G,-:0.46,-:NOT_FOUND,- 2 33003048 . G . . NT END=33007692;NT GT ./. 2 33007746 . G . . NT END=33012050;NT GT ./. 2 33007992 rs220652 T G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2993,G/0.7007;Gene=TTC27/NM_001193509.1/0;CC=c.1682+247T>G;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.1832+247T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:5:0:0:0:3,2:94,65:9.37,0.00:0.00,0.00:9.37,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:42.3,3.5:0,0:0,0:36,92:114,59:0,3:NM_017735.4(TTC27) c.1832+247T>G,-:0.65,-:NOT_FOUND,- 2 33012217 . G . . NT END=33036090;NT GT ./. 2 33036289 . G . . NT END=33037570;NT GT ./. 2 33036324 rs3731578 G A 99 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.5479,A/0.4521,C/.;Gene=TTC27/NM_001193509.1/0;CC=c.2046+36G>A;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.2196+36G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:20:0:0:32,30:1019,955:98.53,0.00:21.61,0.00:76.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,9.9:0,0:0,0:93,109:52,41:27,26:NM_017735.4(TTC27) c.2196+36G>A,-:0.4,-:0.413348,- 2 33037683 . G . . NT END=33042523;NT GT ./. 2 33042625 . G . . NT END=33045882;NT GT ./. 2 33045732 rs6543677 T C 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3187,C/0.6813;Gene=TTC27/NM_001193509.1/0;CC=c.2260-151T>C;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.2410-151T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:241,206:23.23,0.00:23.23,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:70,60:35.9,1.7:0,0:0,0:55,39:96,112:37,15:NM_017735.4(TTC27) c.2410-151T>C,-:0.64,-:NOT_FOUND,- 2 33045867 rs77795521 G GT 75 rn VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.8013,GT/0.1987;DB;DBA=NA;PAF=G/0.8013,GT/0.1987;NP=367;PC=0.001;Gene=TTC27/NM_001193509.1/0;CC=c.2260-10dupT;VC=Intron;Gene=TTC27/NM_017735.4/1;CC=c.2410-10dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:53:47:25:0:28,25:935,792:0.00,75.22:0.00,61.95:0.00,13.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,5.6:0,0:0,0:58,43:78,105:29,35:-,NM_017735.4(TTC27) c.2410-16_2410-15insT:-,0.16:-,NOT_FOUND 2 33046006 . t . . NT END=33172391;NT GT ./. 2 33051813 rs60545208 T A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.009;Gene=LINC00486/NR_027098.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,T:4:3:0:0:3,1:98,34:10.25,0.00:5.43,0.00:4.83,0.00:0.85,0.00:0.99,0.00:0.85,0.00:60,60:62.3,34.0:0,0:0,0:57,105:61,46:43,0:NR_027098.1(LINC00486) n.68+1236T>A,-:0.33,-:NOT_FOUND,- 2 33091951 rs201023747 C G,T 9 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=100 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:G,T:4:4:0:1:1,3:10,83:0.88,9.35:0.88,9.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:22,18:100.0,115.3:1,0:0,0:54,19:97,93:0,1:NR_027098.1(LINC00486) n.289+25651C>G,NR_027098.1(LINC00486) n.289+25651C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 33091956 rs369315949 C T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=89;Gene=LINC00486/NR_027098.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:5:5:0:1:1,4:33,82:0.00,8.90:0.00,8.90:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:18,22:165.0,111.5:0,0:0,0:3,45:139,86:0,22:-,NR_027098.1(LINC00486) n.289+25656C>T:-,NOT_FOUND:-,NOT_FOUND 2 33141308 rs199876417 T G 225 sb;idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=NA;NP=10;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,I,D:171:3:5:5:3,16,105,43,3,1:39,139,2158,520,25,1:0.56,5.54,224.76,0.00,-0.28,-0.11:-0.01,-0.04,1.86,0.00,-0.01,-0.00:0.56,5.58,222.91,0.00,-0.27,-0.11:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.94,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:5,53,60,60,57,1:63.0,62.0,78.1,68.9,70.3,81.0:0,2,5,5,2,0:0,0,0,0,0,0:31,12,14,11,31,36:86,98,105,104,84,74:1,5,7,5,11,0:NR_027098.1(LINC00486) n.454-9112T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 33141319 rs74712418 C G 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=248;DB;DBA=NA;PAF=NA;NP=316;NP=5;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:248:4:1:5:1,209,26,10,1,1:13,1409,597,122,4,2:-0.24,0.00,38.29,1.20,-0.32,-0.33:-0.00,0.00,0.37,-0.03,0.00,-0.00:-0.24,0.00,37.92,1.23,-0.32,-0.32:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.37,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:2,60,43,19,4,2:119.0,71.4,75.1,70.0,33.0,30.0:0,7,1,0,0,0:0,0,0,0,0,0:2,21,25,24,67,2:112,100,90,97,40,146:0,9,13,5,0,0:-,NR_027098.1(LINC00486) n.454-9101C>G:-,NOT_FOUND:-,NOT_FOUND 2 33141401 . A G 336 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=269;NP=2;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:265:1:1:30:102,20,122,14,1,6:1586,174,3459,153,16,63:0.00,5.38,335.88,3.81,-0.01,0.33:0.00,-0.03,-0.25,-0.02,-0.00,-0.01:0.00,5.41,336.12,3.83,-0.01,0.34:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.64,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:60,60,60,37,17,31:76.8,79.5,88.5,88.8,82.0,156.5:15,1,0,0,0,6:0,0,0,0,0,0:90,87,100,84,72,68:34,36,36,58,67,68:28,21,9,11,0,21:-,NR_027098.1(LINC00486) n.454-9019A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141405 . A G 342 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=239;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:238:1:1:27:73,15,131,17,1,1:954,109,3390,226,9,14:0.00,2.03,342.31,10.38,-0.09,-0.11:0.00,-0.03,-0.33,-0.03,-0.00,-0.00:0.00,2.05,342.63,10.41,-0.09,-0.11:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.70,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:60,60,60,60,9,8:94.4,81.9,85.4,87.6,79.0,145.0:17,4,5,5,0,1:0,0,0,0,0,0:80,91,101,101,60,83:58,38,33,32,60,37:27,24,11,7,0,16:-,NR_027098.1(LINC00486) n.454-9015A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141413 . GTGAGA G 67 idl,nt VT=DEL;SST=Single;DP=235;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,GTGAGA,T,G:223:1:0:109:3,3,141,2,74:40,29,2847,20,1086:0.06,-0.44,0.00,-0.36,66.98:-0.01,-0.01,0.00,-0.00,-0.16:0.06,-0.43,0.00,-0.36,67.14:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.54:0.00,0.00,0.00,0.00,1.00:23,17,60,12,60:117.3,72.0,91.0,49.0,89.7:1,3,52,1,13:0,0,0,0,0:50,88,96,94,105:101,38,39,39,29:39,20,25,19,11:-,NR_027098.1(LINC00486) n.454-9006_454-9002delTGAGA:-,NOT_FOUND:-,NOT_FOUND 2 33141414 . T G 51 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=122;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T,D:118:1:0:124:12,11,33,60,2:178,100,617,781,46:9.34,3.28,50.67,0.00,-0.30:0.00,0.00,0.80,0.00,0.00:9.34,3.28,49.86,0.00,-0.30:0.00,0.00,1.00,0.00,0.00:0.00,0.00,0.51,0.00,0.00:0.00,0.00,1.00,0.00,0.00:23,60,60,60,60:98.7,88.5,92.2,97.1,204.5:2,8,6,32,4:0,0,0,0,0:66,103,76,88,86:66,28,54,46,40:32,9,24,22,19:NR_027098.1(LINC00486) n.454-9006T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 33141416 . A G 23 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=116;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:116:1:1:134:79,6,19,9,1,2:1139,43,343,99,2,11:0.00,-0.50,22.68,2.34,-0.30,-0.46:0.00,0.37,0.00,0.00,0.00,0.00:0.00,-0.87,22.68,2.34,-0.30,-0.46:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.44,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:60,35,24,60,2,8:86.5,147.0,106.7,78.8,281.0,63.5:26,1,0,2,0,0:0,0,0,0,0,0:54,91,72,91,103,57:75,40,62,44,48,57:39,18,32,13,0,48:-,NR_027098.1(LINC00486) n.454-9004A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141418 . A G 56 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=165;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I:165:1:1:101:100,15,40,9,1:1420,137,733,99,6:0.00,3.55,56.01,1.73,-0.24:0.00,0.53,0.00,0.00,0.00:0.00,3.02,56.01,1.73,-0.24:0.00,0.00,1.00,0.00,0.00:0.00,0.00,0.50,0.00,0.00:0.00,0.00,1.00,0.00,0.00:37,60,60,31,6:82.4,91.6,98.4,104.0,58.0:34,8,9,3,2:0,0,0,0,0:56,91,65,103,73:73,48,77,42,33:41,23,37,14,0:-,NR_027098.1(LINC00486) n.454-9002A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141468 rs141897024 A G 189 nt VT=SNV;PN=G;NN=G;SST=Single;DP=544;DB;DBA=NA;PAF=NA;NP=428;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:534:8:5:20:340,42,112,32,2,6:4395,344,2453,362,10,87:0.00,4.98,189.13,7.26,-0.58,-1.23:0.00,-0.12,3.87,-0.09,-0.01,-0.02:0.00,5.10,185.26,7.36,-0.57,-1.21:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.80,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:60,25,23,40,5,15:82.5,71.3,79.2,96.7,169.0,147.3:23,3,0,3,3,7:0,0,0,0,0,0:43,47,43,45,56,51:80,72,85,86,57,90:16,21,13,13,6,15:-,NR_027098.1(LINC00486) n.454-8952A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141508 rs150602740 A G 1173 sb;idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=1065;DB;DBA=NA;PAF=NA;NP=22;NP=32;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:1055:7:9:48:429,67,484,67,4,4:5808,483,12201,785,68,78:0.00,6.44,1172.60,25.66,-0.36,-0.64:0.00,-0.14,-1.25,0.22,-0.01,-0.01:0.00,6.57,1173.85,25.44,-0.35,-0.64:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.98,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:40,22,30,19,27,16:77.5,77.1,89.2,92.0,136.2,234.2:35,6,2,2,5,5:0,0,0,0,0,0:65,48,34,60,69,56:68,90,117,78,46,88:29,34,15,34,18,34:-,NR_027098.1(LINC00486) n.454-8912A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141540 . A G 1799 sb;idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=1234;NP=2;NP=20;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:1221:6:10:88:386,63,700,57,5,10:5224,407,17780,700,76,86:0.00,2.72,1799.14,21.65,-0.54,-1.03:0.00,0.28,-1.41,0.26,-0.01,-0.01:0.00,2.45,1800.55,21.39,-0.54,-1.01:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.99,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:39,20,34,22,21,12:83.8,74.0,85.8,89.0,161.8,131.8:46,9,4,4,5,8:0,0,0,0,0,0:67,42,55,64,76,68:57,83,85,78,59,72:36,19,16,32,22,34:-,NR_027098.1(LINC00486) n.454-8880A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141553 rs200605609 A G 1602 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=1288;DB;DBA=NA;PAF=NA;NP=1;NP=65;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:1285:5:5:32:523,73,620,65,2,2:6623,502,16497,792,39,12:0.00,3.33,1601.70,23.50,-0.41,-0.43:0.00,0.33,-0.69,0.31,-0.00,-0.00:0.00,3.00,1602.39,23.19,-0.41,-0.42:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.96,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:34,20,38,23,39,9:83.3,71.8,84.9,92.1,296.0,33.0:46,5,4,3,3,0:0,0,0,0,0,0:69,48,64,72,70,23:62,80,74,69,53,96:28,22,15,32,25,12:-,NR_027098.1(LINC00486) n.454-8867A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141624 rs201491036 A G 249 nt VT=SNV;PN=G;NN=G;SST=Single;DP=877;DB;DBA=NA;PAF=A/0.9533,G/.,T/0.04673;NP=211;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I:875:1:4:21:662,45,136,30,2:11083,301,3412,375,25:0.00,-5.64,249.24,3.73,-0.56:0.00,0.25,0.00,0.00,0.00:0.00,-5.89,249.24,3.73,-0.56:0.00,0.00,1.00,0.00,0.00:0.00,0.00,0.44,0.00,0.00:0.00,0.00,1.00,0.00,0.00:26,39,56,38,11:80.6,75.7,89.9,90.3,164.5:28,3,7,2,2:0,0,0,0,0:126,99,106,111,80:6,29,24,24,58:17,15,18,10,16:-,NR_027098.1(LINC00486) n.454-8796A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141648 . C G 109 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=201;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:199:0:3:12:8,133,50,4,2,2:133,1462,1304,57,21,19:4.79,0.00,109.15,0.67,-0.18,-0.53:0.00,0.00,0.00,0.00,0.00,0.00:4.79,0.00,109.15,0.67,-0.18,-0.53:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:13,56,21,5,17,16:115.6,83.9,104.2,135.0,115.5,131.5:0,7,1,0,1,2:0,0,0,0,0,0:141,121,113,131,70,93:5,9,17,10,46,40:7,15,12,11,11,10:-,NR_027098.1(LINC00486) n.454-8772C>G:-,NOT_FOUND:-,NOT_FOUND 2 33141654 . C G 91 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=148;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I,D:145:0:2:19:9,84,43,7,1,1:139,1129,1052,84,27,28:6.07,0.00,91.05,1.77,-0.17,-0.24:0.00,0.00,0.00,0.00,0.00,0.00:6.07,0.00,91.05,1.77,-0.17,-0.24:0.00,0.00,1.00,0.00,0.00,0.00:0.00,0.00,0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00,0.00:8,34,33,56,34,24:112.2,85.9,121.0,104.6,81.0,178.0:3,16,2,2,1,2:0,0,0,0,0,0:113,121,116,100,102,103:29,9,15,16,27,32:8,18,8,10,12,3:-,NR_027098.1(LINC00486) n.454-8766C>G:-,NOT_FOUND:-,NOT_FOUND 2 33141665 . A G 91 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;NP=2;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I:75:0:1:5:25,8,34,7,1:351,55,928,94,16:0.00,1.54,90.86,4.88,0.26:0.00,0.00,0.00,0.00,0.00:0.00,1.54,90.86,4.88,0.26:0.00,0.00,1.00,0.00,0.00:0.00,0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:33,34,56,45,16:87.3,68.1,136.3,143.6,117.0:6,0,3,0,0:0,0,0,0,0:120,105,119,121,86:17,22,24,29,26:13,10,10,1,0:-,NR_027098.1(LINC00486) n.454-8755A>G:-,NOT_FOUND:-,NOT_FOUND 2 33141693 . N G 71 nt VT=SNV;PN=G;NN=N;SST=Single;DP=26;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:G:26:0:0:0:26:589:70.98:0.00:70.98:1.00:0.00:1.00:31:135.5:0:0:133:2:15:NR_027098.1(LINC00486) n.454-8727N>G,NR_027098.1(LINC00486) n.454-8727N>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 33141694 . N C 33 nt VT=SNV;PN=N;NN=N;SST=Single;DP=16;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,G,T:16:0:0:0:14,1,1:272,30,29:32.90,2.27,2.17:0.00,0.00,0.00:32.90,2.27,2.17:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:31,2,6:145.6,185.0,149.0:0,0,0:0,0,0:121,149,150:2,2,1:13,0,0:NR_027098.1(LINC00486) n.454-8726N>C,NR_027098.1(LINC00486) n.454-8726N>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 33141695 . N C 30 nt VT=SNV;PN=N;NN=N;SST=Single;DP=12;Gene=LINC00486/NR_027098.1/0;VC=NonCoding;Gene=LINC00486/NR_027099.1/0;VC=NonCoding;Gene=LINC00486/NR_027100.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:241:29.69:0.00:29.69:1.00:0.00:1.00:31:138.5:0:0:118:1:11:NR_027098.1(LINC00486) n.454-8725N>C,NR_027098.1(LINC00486) n.454-8725N>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 33172307 rs112060237 C G 83 nt VT=SNV;PN=G;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.9457,G/0.05431 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:72:67:0:0:43,29:1259,905:0.00,83.31:0.00,69.42:0.00,13.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.9,38.8:0,0:0,0:40,27:109,115:18,13:-,NM_206943.2(LTBP1) c.-23-u62C>G:-,0.08:-,NOT_FOUND 2 33172886 . G . . NT END=33173941;NT GT ./. 2 33173154 rs147888211 CCTT C 20 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CCTT/0.9457,C/0.05431;NP=155;PC=0.001;Gene=LTBP1/NM_206943.2/1;CC=c.494+272_494+274delTCT;VC=Intron;DM=LTBP1/EGF_CA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:CCTT,C:8:0:0:6:2,6:64,194:0.00,20.31:0.00,0.00:0.00,20.31:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,0.0:0,0:0,0:81,72:70,78:52,14:-,NM_206943.2(LTBP1) c.494+270_494+272delCTT:-,0.07:-,NOT_FOUND 2 33174013 . G . . NT END=33245975;NT GT ./. 2 33174072 rs150654 A C 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.7464,C/0.2536;Gene=LTBP1/NM_206943.2/1;CC=c.565+60A>C;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:50:20:0:0:32,18:928,515:0.00,45.87:0.00,15.43:0.00,30.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.1,41.3:0,0:0,0:117,111:31,39:19,26:-,NM_206943.2(LTBP1) c.565+60A>C:-,0.24:-,0.334647 2 33174252 rs72866295 C G 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9239,G/0.07608;Gene=LTBP1/NM_206943.2/1;CC=c.565+240C>G;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,G:14:0:0:0:4,10:143,321:0.00,33.22:0.00,0.00:0.00,33.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.5,44.4:0,0:0,0:86,77:63,73:3,44:-,NM_206943.2(LTBP1) c.565+240C>G:-,0.08:-,NOT_FOUND 2 33194296 rs575035380 T G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5717,TTG/0.4283;DB;DBA=NA;PAF=T/0.4671,G/0.5329;DB;DBA=NA;PAF=T/0.5717,TTG/0.4283;PC=0.017;Gene=LTBP1/NM_206943.2/1;CC=c.565+20284T>G;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:2:0:2:5:171:19.48:3.88:15.61:1.00:1.00:1.00:60:75.6:0:0:65:41:2:NM_206943.2(LTBP1) c.565+20284T>G,NM_206943.2(LTBP1) c.565+20284T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 33194411 rs70938381 T TGTG 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5284,TGTG/0.4716;DB;DBA=NA;PAF=T/0.5284,TGTG/0.4716;NP=594;PC=0.263;Gene=LTBP1/NM_206943.2/1;CC=c.565+20404_565+20405insGGT;VC=Intron;DM=LTBP1/EGF_CA;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TGTG:4:1:2:0:2,2:43,67:0.00,6.46:0.00,1.79:0.00,4.67:0.00,0.51:0.00,0.67:0.00,0.51:60,60:3.5,0.0:1,0:0,0:120,102:14,49:26,3:-,NM_206943.2(LTBP1) c.565+20399_565+20400insGTG:-,NOT_FOUND:-,NOT_FOUND 2 33246274 . G . . NT END=33335648;NT GT ./. 2 33246491 rs219195 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3854,G/0.6146;Gene=LTBP1/NM_206943.2/1;CC=c.863+218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:13:0:0:0:9,4:283,138:0.00,12.23:0.00,0.00:0.00,12.23:0.00,0.79:0.00,0.00:0.00,0.79:60,60:8.7,34.5:0,0:0,0:94,63:55,87:31,16:-,NM_206943.2(LTBP1) c.863+218A>G:-,0.62:-,NOT_FOUND 2 33281558 rs72791802 G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.9407,A/0.05931;PC=1.000;Gene=LTBP1/NM_206943.2/1;CC=c.863+35285G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,G:21:3:0:0:7,14:195,425:17.02,0.00:-0.26,0.00:17.28,0.00:0.97,0.00:0.73,0.00:0.97,0.00:60,60:64.4,5.3:0,0:0,0:64,89:87,62:23,31:NM_206943.2(LTBP1) c.863+35285G>A,-:0.07,-:NOT_FOUND,- 2 33317264 rs34702998 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2346,A/0.7654;DB;DBA=NA;PAF=NA;Gene=LTBP1/NM_206943.2/1;CC=c.864-18385G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:11.78:3.93:1.00:1.00:1.00:60:42.8:0:0:64:86:26:NM_206943.2(LTBP1) c.864-18385G>A,NM_206943.2(LTBP1) c.864-18385G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 33335819 . G . . NT END=33359663;NT GT ./. 2 33335847 rs218226 C T 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.6076,T/0.3924;PC=0.002;Gene=LTBP1/NM_206943.2/1;CC=c.1033+29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:25:0:0:44,19:1454,554:0.00,47.70:0.00,20.58:0.00,27.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,34.3:0,0:0,0:80,95:65,51:35,25:-,NM_206943.2(LTBP1) c.1033+29C>T:-,0.39:-,0.379594 2 33340106 rs7605817 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=244;Gene=LTBP1/NM_206943.2/1;CC=c.1033+4288C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:3:0:1:1,3:30,88:0.00,9.25:0.00,4.93:0.00,4.32:0.00,0.85:0.00,0.99:0.00,0.95:60,70:42.0,75.7:0,0:0,0:2,60:126,91:0,12:-,NM_206943.2(LTBP1) c.1033+4288C>T:-,NOT_FOUND:-,NOT_FOUND 2 33360028 . G . . NT END=33411922;NT GT ./. 2 33360185 rs1545551 T C 87 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.03155,C/0.9685;Gene=LTBP1/NM_206943.2/1;CC=c.1201+158T>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.223+158T>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.223+158T>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.223+158T>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.223+158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:0:0:0:27:747:87.44:0.00:87.44:1.00:0.00:1.00:60:37.3:0:0:88:63:38:NM_206943.2(LTBP1) c.1201+158T>C,NM_206943.2(LTBP1) c.1201+158T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 33360338 rs1545552 A G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1577,G/0.8423;Gene=LTBP1/NM_206943.2/1;CC=c.1201+311A>G;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.223+311A>G;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.223+311A>G;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.223+311A>G;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.223+311A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:35.2:0:0:98:51:29:NM_206943.2(LTBP1) c.1201+311A>G,NM_206943.2(LTBP1) c.1201+311A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 33412148 . G . . NT END=33413643;NT GT ./. 2 33413494 rs577171233 CA C 11 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CA/0.8355,C/0.1645;NP=2;PC=0.001;Gene=LTBP1/NM_206943.2/1;CC=c.1427-133delA;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.449-133delA;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.449-133delA;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.449-133delA;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.449-133delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:CA,I,C:14:17:1:7:9,1,4:300,34,207:0.00,2.41,10.65:0.00,2.41,10.65:0.00,0.00,0.00:0.00,0.00,0.74:0.00,0.00,0.74:0.00,0.00,0.00:60,60,60:12.6,20.0,83.2:0,0,3:0,0,0:86,73,45:65,78,106:26,0,10:-,NM_206943.2(LTBP1) c.1427-149delA:-,NOT_FOUND:-,NOT_FOUND 2 33413919 . G . . NT END=33442618;NT GT ./. 2 33414009 rs3922572 T A 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.03914,A/0.9609;Gene=LTBP1/NM_206943.2/1;CC=c.1701+91T>A;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.723+91T>A;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.723+91T>A;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.723+91T>A;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.723+91T>A;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/TB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:30:4:0:0:16,14:467,437:45.30,0.00:7.29,0.00:38.01,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:48.0,5.9:0,1:0,0:112,111:38,39:32,20:NM_206943.2(LTBP1) c.1701+91T>A,-:0.88,-:NOT_FOUND,- 2 33442722 . G . . NT END=33447146;NT GT ./. 2 33447023 rs7608535 G A 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6649,A/0.3351;Gene=LTBP1/NM_206943.2/1;CC=c.1805-124G>A;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.827-124G>A;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.827-124G>A;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.827-124G>A;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.827-124G>A;VC=Intron;DM=LTBP1/TB;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:7,8:232,242:22.05,0.00:22.05,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:33.1,8.4:0,0:0,0:67,48:84,102:46,35:NM_206943.2(LTBP1) c.1805-124G>A,-:0.39,-:NOT_FOUND,- 2 33447202 rs2290448 C T 40 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.6673,T/0.3327;PC=1.000;Gene=LTBP1/NM_206943.2/1;CC=c.1860C>T;ProtCh=p.N620=;VC=Silent;Gene=LTBP1/NM_000627.3/0;CC=c.882C>T;ProtCh=p.N294=;VC=Silent;Gene=LTBP1/NM_001166264.1/0;CC=c.882C>T;ProtCh=p.N294=;VC=Silent;Gene=LTBP1/NM_001166265.1/0;CC=c.882C>T;ProtCh=p.N294=;VC=Silent;Gene=LTBP1/NM_001166266.1/0;CC=c.882C>T;ProtCh=p.N294=;VC=Silent;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:20:0:0:20,14:675,435:0.00,40.15:0.00,12.72:0.00,27.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,52.0:0,0:0,0:75,86:75,49:28,28:-,NM_206943.2(LTBP1) c.1860C>T (p.(=)):-,0.39:-,0.402353 2 33447219 . G . . NT END=33468728;NT GT ./. 2 33468852 . G . . NT END=33477743;NT GT ./. 2 33474390 rs368333270 TCACACA T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12;PC=0.347;Gene=LTBP1/NM_206943.2/1;CC=c.2000-3315_2000-3310delCACACA;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.1022-3315_1022-3310delCACACA;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.1022-3315_1022-3310delCACACA;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.1022-3315_1022-3310delCACACA;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.1022-3315_1022-3310delCACACA;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:TCACACA,I,T:4:4:1:2:1,1,2:34,33,68:0.00,3.05,6.85:0.00,3.11,5.21:0.00,-0.06,1.64:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.79:60,60,60:0.0,11.0,17.0:0,0,0:0,0,0:121,44,69:30,107,77:0,0,2:-,NM_206943.2(LTBP1) c.2000-3353_2000-3348delCACACA:-,NOT_FOUND:-,NOT_FOUND 2 33477912 . G . . NT END=33482350;NT GT ./. 2 33477964 rs3731575 C T 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.8247,T/0.1753;Gene=LTBP1/NM_206943.2/1;CC=c.2167+53C>T;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.1189+53C>T;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.1189+53C>T;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.1189+53C>T;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.1189+53C>T;VC=Intron;DM=LTBP1/TB;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:18:0:0:31,30:952,955:0.00,91.39:0.00,13.77:0.00,77.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,41.5:0,0:0,0:127,105:24,40:22,24:-,NM_206943.2(LTBP1) c.2167+53C>T:-,0.2:-,NOT_FOUND 2 33482579 . G . . NT END=33484654;NT GT ./. 2 33482720 rs35328302 GC G 17 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GC/0.8498,G/0.1502;NP=91;Gene=LTBP1/NM_206943.2/1;CC=c.2395+143delC;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.1417+143delC;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.1417+143delC;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.1258+143delC;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.1258+143delC;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:GC,G:12:0:0:6:6,6:187,180:0.00,17.26:0.00,0.00:0.00,17.26:0.00,0.98:0.00,0.00:0.00,0.98:60,70:17.0,3.8:0,0:0,0:93,114:56,35:25,27:-,NM_206943.2(LTBP1) c.2395+143delC:-,0.17:-,NOT_FOUND 2 33484678 . G . . NT END=33487788;NT GT ./. 2 33487889 . G . . NT END=33488360;NT GT ./. 2 33488419 rs12468099 G A 76 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.8325,A/0.1675;PC=0.350;Gene=LTBP1/NM_206943.2/1;CC=c.2577G>A;ProtCh=p.T859=;VC=Silent;Gene=LTBP1/NM_000627.3/0;CC=c.1599G>A;ProtCh=p.T533=;VC=Silent;Gene=LTBP1/NM_001166264.1/0;CC=c.1599G>A;ProtCh=p.T533=;VC=Silent;Gene=LTBP1/NM_001166265.1/0;CC=c.1440G>A;ProtCh=p.T480=;VC=Silent;Gene=LTBP1/NM_001166266.1/0;CC=c.1440G>A;ProtCh=p.T480=;VC=Silent;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:39:0:0:24,23:788,682:76.15,0.00:37.40,0.00:38.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,0.0:0,0:0,0:76,62:63,86:24,12:NM_206943.2(LTBP1) c.2577G>A (p.(=)),-:0.19,-:0.212671,- 2 33488460 . G . . NT END=33498722;NT GT ./. 2 33498849 . G . . NT END=33500031;NT GT ./. 2 33499107 rs3754829 G A 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5371,A/0.4629;PC=0.004;Gene=LTBP1/NM_206943.2/1;CC=c.2743+259G>A;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.1765+259G>A;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.1765+259G>A;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.1606+259G>A;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.1606+259G>A;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:8:0:0:0:3,5:90,170:8.13,0.00:0.00,0.00:8.13,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:43.0,2.2:0,0:0,0:71,115:77,34:2,24:NM_206943.2(LTBP1) c.2743+259G>A,-:0.45,-:NOT_FOUND,- 2 33499709 rs62148882 C T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7161,T/0.2839;Gene=LTBP1/NM_206943.2/1;CC=c.2744-323C>T;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.1766-323C>T;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.1766-323C>T;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.1607-323C>T;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.1607-323C>T;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:6:6:0:0:3,3:100,82:0.00,7.80:0.00,7.80:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:8.3,27.3:0,0:0,0:93,37:58,114:45,2:-,NM_206943.2(LTBP1) c.2744-323C>T:-,0.29:-,NOT_FOUND 2 33500158 . G . . NT END=33500867;NT GT ./. 2 33500848 rs3816479 A G 151 nt VT=SNV;PN=A;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.8161,G/0.1839;Gene=LTBP1/NM_206943.2/1;CC=c.2870-20A>G;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.1892-20A>G;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.1892-20A>G;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.1733-20A>G;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.1733-20A>G;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:101:85:0:0:52,49:1683,1581:0.00,150.97:0.00,106.53:0.00,44.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,44.1:0,0:0,0:45,53:106,94:29,21:-,NM_206943.2(LTBP1) c.2870-20A>G:-,0.21:-,0.238582 2 33500991 . G . . NT END=33505105;NT GT ./. 2 33505226 . G . . NT END=33518226;NT GT ./. 2 33518350 . G . . NT END=33525517;NT GT ./. 2 33525382 rs935996 A C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4597,C/0.5403;Gene=LTBP1/NM_206943.2/1;CC=c.3236-136A>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.2258-136A>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2258-136A>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2099-136A>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2099-136A>C;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA;DM=LTBP1/cEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:21:0:0:12,9:361,262:0.00,24.24:0.00,24.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:37.0,45.3:0,0:0,0:40,34:110,117:29,25:-,NM_206943.2(LTBP1) c.3236-136A>C:-,0.53:-,NOT_FOUND 2 33525407 rs2123769 A G 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.8233,G/0.1767;Gene=LTBP1/NM_206943.2/1;CC=c.3236-111A>G;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.2258-111A>G;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2258-111A>G;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2099-111A>G;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2099-111A>G;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA;DM=LTBP1/cEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:29:0:0:15,15:454,438:0.00,41.84:0.00,38.81:0.00,3.04:0.00,1.00:0.00,1.00:0.00,0.96:60,60:32.0,45.9:0,0:0,0:29,37:119,109:22,23:-,NM_206943.2(LTBP1) c.3236-111A>G:-,0.21:-,NOT_FOUND 2 33525641 . G . . NT END=33526588;NT GT ./. 2 33526382 rs6735659 T G 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4597,G/0.5403;PC=0.043;Gene=LTBP1/NM_206943.2/1;CC=c.3359-207T>G;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.2381-207T>G;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2381-207T>G;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2222-207T>G;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2222-207T>G;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:G,T:15:15:0:0:8,7:250,185:24.32,0.00:24.32,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:83.5,3.6:0,0:0,0:48,35:101,116:29,28:NM_206943.2(LTBP1) c.3359-207T>G,-:0.53,-:NOT_FOUND,- 2 33526712 . G . . NT END=33534500;NT GT ./. 2 33534624 . G . . NT END=33540210;NT GT ./. 2 33540138 rs2276591 G A 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.4497,A/0.5503;Gene=LTBP1/NM_206943.2/1;CC=c.3605-73G>A;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.2627-73G>A;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2627-73G>A;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2468-73G>A;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2468-73G>A;VC=Intron;DM=LTBP1/TB;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:33:0:0:36:1114:128.42:103.87:24.55:1.00:1.00:1.00:60:46.1:0:0:52:98:30:NM_206943.2(LTBP1) c.3605-73G>A,NM_206943.2(LTBP1) c.3605-73G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 2 33540172 rs397840290 A AT 53 rn VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.729,AT/0.271,ATT/.;DB;DBA=NA;PAF=A/0.729,AT/0.271;NP=1799;Gene=LTBP1/NM_206943.2/1;CC=c.3605-32dupT;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.2627-32dupT;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2627-32dupT;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2468-32dupT;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2468-32dupT;VC=Intron;DM=LTBP1/TB;DM=LTBP1/EGF_CA;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:49:45:19:0:30,19:956,580:0.00,52.86:0.00,48.28:0.00,4.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.1,46.3:0,0:0,0:54,55:96,96:36,27:-,NM_206943.2(LTBP1) c.3605-39_3605-38insT:-,0.28:-,NOT_FOUND 2 33540248 rs1058840 G A 315 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.5397,A/0.4603,T/.;PC=0.221;Gene=LTBP1/NM_206943.2/1;CC=c.3642G>A;ProtCh=p.P1214=;VC=Silent;Gene=LTBP1/NM_000627.3/0;CC=c.2664G>A;ProtCh=p.P888=;VC=Silent;Gene=LTBP1/NM_001166264.1/0;CC=c.2664G>A;ProtCh=p.P888=;VC=Silent;Gene=LTBP1/NM_001166265.1/0;CC=c.2505G>A;ProtCh=p.P835=;VC=Silent;Gene=LTBP1/NM_001166266.1/0;CC=c.2505G>A;ProtCh=p.P835=;VC=Silent;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:84:63:0:0:84:2750:314.96:192.21:122.75:1.00:1.00:1.00:60:46.5:0:0:61:87:34:NM_206943.2(LTBP1) c.3642G>A (p.(=)),NM_206943.2(LTBP1) c.3642G>A (p.(=)):0.49,0.49:0.558127,0.558127 2 33540337 . G . . NT END=33567904;NT GT ./. 2 33568031 . G . . NT END=33572433;NT GT ./. 2 33568191 rs5024712 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4121,C/0.5879;PC=0.002;Gene=LTBP1/NM_206943.2/1;CC=c.3856+161T>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.2878+161T>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2753-4243T>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2719+161T>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2594-4243T>C;VC=Intron;DM=LTBP1/EGF_CA;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:271,306:25.97,0.00:0.00,0.00:25.97,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.4,0.0:0,0:0,0:102,69:49,82:35,43:NM_206943.2(LTBP1) c.3856+161T>C,-:0.58,-:NOT_FOUND,- 2 33572555 rs6706620 G A 117 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.9097,A/0.09026;PC=1.000;Gene=LTBP1/NM_206943.2/1;CC=c.3978G>A;ProtCh=p.Q1326=;VC=Silent;Gene=LTBP1/NM_000627.3/0;CC=c.3000G>A;ProtCh=p.Q1000=;VC=Silent;Gene=LTBP1/NM_001166264.1/0;CC=c.2874G>A;ProtCh=p.Q958=;VC=Silent;Gene=LTBP1/NM_001166265.1/0;CC=c.2841G>A;ProtCh=p.Q947=;VC=Silent;Gene=LTBP1/NM_001166266.1/0;CC=c.2715G>A;ProtCh=p.Q905=;VC=Silent;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:55:0:0:41,58:1271,1940:117.44,0.00:38.85,0.00:78.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,6.9:0,0:0,0:75,82:68,59:32,30:NM_206943.2(LTBP1) c.3978G>A (p.(=)),-:0.09,-:0.133631,- 2 33572578 . G . . NT END=33585663;NT GT ./. 2 33579750 rs71409608 TAC T 15 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=39;Gene=LTBP1/NM_206943.2/1;CC=c.4001-5869_4001-5868delAC;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.3023-5869_3023-5868delAC;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2897-5869_2897-5868delAC;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2864-5869_2864-5868delAC;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2738-5869_2738-5868delAC;VC=Intron;DM=LTBP1/EGF_CA;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:TAC,T:8:5:0:5:3,5:99,147:0.00,14.78:0.00,4.51:0.00,10.28:0.00,0.97:0.00,0.99:0.00,1.00:60,60:50.3,39.8:0,0:0,0:103,37:43,113:33,7:-,NM_206943.2(LTBP1) c.4001-5913_4001-5912delAC:-,NOT_FOUND:-,NOT_FOUND 2 33579795 rs7591417 A C 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9123,C/0.08766;Gene=LTBP1/NM_206943.2/1;CC=c.4001-5869A>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.3023-5869A>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.2897-5869A>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.2864-5869A>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2738-5869A>C;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:6:2:0:0:1,5:35,158:0.00,17.01:0.00,2.61:0.00,14.40:0.00,0.99:0.00,0.98:0.00,1.00:60,60:64.0,49.8:0,0:0,0:87,80:32,70:0,15:-,NM_206943.2(LTBP1) c.4001-5869A>C:-,0.1:-,NOT_FOUND 2 33585796 rs4422143 T C 303 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=3481;PC=0.998;Gene=LTBP1/NM_206943.2/1;CC=c.4133T>C;ProtCh=p.V1378A;VC=Missense;Gene=LTBP1/NM_000627.3/0;CC=c.3155T>C;ProtCh=p.V1052A;VC=Missense;Gene=LTBP1/NM_001166264.1/0;CC=c.3029T>C;ProtCh=p.V1010A;VC=Missense;Gene=LTBP1/NM_001166265.1/0;CC=c.2996T>C;ProtCh=p.V999A;VC=Missense;Gene=LTBP1/NM_001166266.1/0;CC=c.2870T>C;ProtCh=p.V957A;VC=Missense;DM=LTBP1/TB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:56:0:0:83:2635:302.61:151.29:151.32:1.00:1.00:1.00:60:38.8:0:0:72:72:31:NM_206943.2(LTBP1) c.=,NM_206943.2(LTBP1) c.=:1,1:0.999923,0.999923 2 33585847 . G . . NT END=33586495;NT GT ./. 2 33586464 rs397786645 C CT 51 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.4595,CT/0.5405,CTT/.,CTTT/.,CTTTT/.;DB;DBA=NA;PAF=NA;NP=2;NP=687;PC=0.001;Gene=LTBP1/NM_206943.2/1;CC=c.4184-18dupT;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.3206-18dupT;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3080-18dupT;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3047-18dupT;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.2921-18dupT;VC=Intron;DM=LTBP1/TB;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:C,CT:22:21:19:0:6,16:182,581:0.00,51.07:0.00,33.81:0.00,17.26:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.8,50.4:0,3:0,0:111,49:33,102:27,29:-,NM_206943.2(LTBP1) c.4184-32_4184-31insT:-,NOT_FOUND:-,NOT_FOUND 2 33586583 . G . . NT END=33588456;NT GT ./. 2 33586776 rs2305502 T G 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7055,G/0.2945;PC=0.004;Gene=LTBP1/NM_206943.2/1;CC=c.4270+194T>G;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.3292+194T>G;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3166+194T>G;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3133+194T>G;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3007+194T>G;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:39.2:0:0:77:73:5:NM_206943.2(LTBP1) c.4270+194T>G,NM_206943.2(LTBP1) c.4270+194T>G:0.28,0.28:NOT_FOUND,NOT_FOUND 2 33588586 . G . . NT END=33589282;NT GT ./. 2 33589424 . G . . NT END=33590399;NT GT ./. 2 33590571 . G . . NT END=33614250;NT GT ./. 2 33590693 rs144867482 C CGTGT 21 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=12;Gene=LTBP1/NM_206943.2/1;CC=c.4711+147_4711+148insGTGT;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.3733+147_3733+148insGTGT;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3607+147_3607+148insGTGT;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3574+147_3574+148insGTGT;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3448+147_3448+148insGTGT;VC=Intron;DM=LTBP1/TB;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CGTGT,D:23:0:11:1:14,8,1:382,333,17:0.00,21.11,0.58:0.00,0.00,0.00:0.00,21.11,0.58:0.00,0.98,0.00:0.00,0.00,0.00:0.00,0.98,0.00:60,60,60:11.3,23.2,51.0:0,3,0:0,0,0:110,77,104:38,74,47:14,9,0:-,NM_206943.2(LTBP1) c.4711+123_4711+124insGTGT:-,NOT_FOUND:-,NOT_FOUND 2 33614187 rs642472 C T 147 nt VT=SNV;PN=G;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.4974,T/0.5026;Gene=LTBP1/NM_206943.2/1;CC=c.4712-64C>T;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.3734-64C>T;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3608-64C>T;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3575-64C>T;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3449-64C>T;VC=Intron;DM=LTBP1/TB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:93:0:0:57,51:1757,1553:0.00,147.24:0.00,93.38:0.00,53.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,38.5:0,0:0,0:55,61:94,89:21,28:-,NM_206943.2(LTBP1) c.4712-64C>T:-,0.5:-,NOT_FOUND 2 33614374 . G . . NT END=33622199;NT GT ./. 2 33614554 rs6749614 G A 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8912,A/0.1088;Gene=LTBP1/NM_206943.2/1;CC=c.4834+181G>A;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.3856+181G>A;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3730+181G>A;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3697+181G>A;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3571+181G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G:10:0:0:0:3,7:76,218:6.36,0.00:0.00,0.00:6.36,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:61.0,9.4:0,0:0,0:56,95:91,56:19,43:NM_206943.2(LTBP1) c.4834+181G>A,-:0.1,-:NOT_FOUND,- 2 33622350 . G . . NT END=33623430;NT GT ./. 2 33622448 rs2367734 T C 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3732,C/0.6268;Gene=LTBP1/NM_206943.2/1;CC=c.4984+99T>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.4006+99T>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3880+99T>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3847+99T>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3721+99T>C;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:6:0:0:14,12:462,390:45.07,0.00:14.77,0.00:30.31,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:49.6,3.2:0,0:0,0:128,121:23,29:14,17:NM_206943.2(LTBP1) c.4984+99T>C,-:0.67,-:NOT_FOUND,- 2 33622475 rs12053346 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5994,C/0.4006;PC=0.001;Gene=LTBP1/NM_206943.2/1;CC=c.4984+126T>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.4006+126T>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3880+126T>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3847+126T>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3721+126T>C;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:C,T:15:1:0:0:7,8:167,264:15.42,0.00:-0.14,0.00:15.56,0.00:0.99,0.00:0.64,0.00:0.99,0.00:60,60:64.4,4.8:0,0:0,0:57,93:94,55:45,42:NM_206943.2(LTBP1) c.4984+126T>C,-:0.45,-:NOT_FOUND,- 2 33623288 rs626121 T C 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4301,C/0.5699;Gene=LTBP1/NM_206943.2/1;CC=c.4985-143T>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.4007-143T>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3881-143T>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3848-143T>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3722-143T>C;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,C,T:18:18:0:0:1,12,5:10,395,162:0.27,40.72,0.00:0.27,40.72,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:209.0,114.1,3.2:0,0,0:0,0,0:70,39,84:65,112,67:0,26,21:NM_206943.2(LTBP1) c.4985-143T>C,-:0.61,-:NOT_FOUND,- 2 33623306 rs2034693 C T 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5178,T/0.4822;Gene=LTBP1/NM_206943.2/1;CC=c.4985-125C>T;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.4007-125C>T;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3881-125C>T;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3848-125C>T;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3722-125C>T;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:7,16:238,506:0.00,52.09:0.00,52.09:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.3,125.9:0,0:0,0:48,40:103,110:41,24:-,NM_206943.2(LTBP1) c.4985-125C>T:-,0.51:-,NOT_FOUND 2 33623387 rs624060 A G 112 nt VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.2192,G/0.7808;Gene=LTBP1/NM_206943.2/1;CC=c.4985-44A>G;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.4007-44A>G;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3881-44A>G;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3848-44A>G;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3722-44A>G;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:55:0:0:26,33:852,1140:0.00,112.16:0.00,81.38:0.00,30.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,94.8:0,0:0,0:32,49:110,101:20,34:-,NM_206943.2(LTBP1) c.4985-44A>G:-,0.71:-,0.787252 2 33623388 rs624058 T C 109 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.2192,A/.,C/0.7808;Gene=LTBP1/NM_206943.2/1;CC=c.4985-43T>C;VC=Intron;Gene=LTBP1/NM_000627.3/0;CC=c.4007-43T>C;VC=Intron;Gene=LTBP1/NM_001166264.1/0;CC=c.3881-43T>C;VC=Intron;Gene=LTBP1/NM_001166265.1/0;CC=c.3848-43T>C;VC=Intron;Gene=LTBP1/NM_001166266.1/0;CC=c.3722-43T>C;VC=Intron;DM=LTBP1/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:55:0:0:33,26:1110,830:109.13,0.00:79.14,0.00:29.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:93.9,2.4:0,0:0,0:54,37:97,106:26,23:NM_206943.2(LTBP1) c.4985-43T>C,-:0.72,-:0.787406,- 2 33623613 . A . . NT END=33740203;NT GT ./. 2 33623720 rs8970 A G 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6945,G/0.3055;PC=0.027;Gene=LTBP1/NM_206943.2/1;CC=c.*108A>G;VC=3UTR;Gene=LTBP1/NM_000627.3/0;CC=c.*108A>G;VC=3UTR;Gene=LTBP1/NM_001166264.1/0;CC=c.*108A>G;VC=3UTR;Gene=LTBP1/NM_001166265.1/0;CC=c.*108A>G;VC=3UTR;Gene=LTBP1/NM_001166266.1/0;CC=c.*108A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:9,9:282,289:0.00,27.78:0.00,0.00:0.00,27.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:21.6,80.8:0,0:0,0:62,78:89,73:27,18:-,NM_206943.2(LTBP1) c.*108A>G:-,0.35:-,NOT_FOUND 2 33623734 rs622716 A G 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.2244,G/0.7756;Gene=LTBP1/NM_206943.2/1;CC=c.*122A>G;VC=3UTR;Gene=LTBP1/NM_000627.3/0;CC=c.*122A>G;VC=3UTR;Gene=LTBP1/NM_001166264.1/0;CC=c.*122A>G;VC=3UTR;Gene=LTBP1/NM_001166265.1/0;CC=c.*122A>G;VC=3UTR;Gene=LTBP1/NM_001166266.1/0;CC=c.*122A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:8,9:226,307:0.00,29.92:0.00,0.00:0.00,29.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:24.2,80.8:0,0:0,0:72,92:75,59:19,18:-,NM_206943.2(LTBP1) c.*122A>G:-,0.81:-,NOT_FOUND 2 33740274 . G . . NT END=33741608;NT GT ./. 2 33741712 . A . . NT END=33745018;NT GT ./. 2 33744958 rs7597095 C T 114 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.514,T/0.486;Gene=RASGRP3/NM_170672.2/1;CC=c.174-61C>T;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.174-61C>T;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.174-61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:28:0:0:31:997:114.46:88.18:26.29:1.00:1.00:1.00:60:45.2:0:0:53:94:31:NM_001139488.1(RASGRP3) c.174-61C>T,NM_001139488.1(RASGRP3) c.174-61C>T:0.51,0.51:0.575339,0.575339 2 33745082 . G . . NT END=33745619;NT GT ./. 2 33745208 rs2305576 T C 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5597,C/0.4403;PC=0.004;Gene=RASGRP3/NM_170672.2/1;CC=c.236+127T>C;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.236+127T>C;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.236+127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:0:0:0:19:559:64.94:0.00:64.94:1.00:0.00:1.00:60:39.3:0:0:99:51:28:NM_001139488.1(RASGRP3) c.236+127T>C,NM_001139488.1(RASGRP3) c.236+127T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 33745336 rs2305575 T C 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2015,C/0.7985;PC=0.005;Gene=RASGRP3/NM_170672.2/1;CC=c.236+255T>C;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.236+255T>C;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.236+255T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:6:0:0:10:338:38.57:23.06:15.51:1.00:1.00:1.00:60:67.1:0:0:46:104:34:NM_001139488.1(RASGRP3) c.236+255T>C,NM_001139488.1(RASGRP3) c.236+255T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 2 33745402 rs2305574 A G 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6907,G/0.3093;PC=0.001;Gene=RASGRP3/NM_170672.2/1;CC=c.237-218A>G;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.237-218A>G;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.237-218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:13:0:0:15:472:54.35:46.89:7.45:1.00:1.00:1.00:60:65.0:0:0:70:80:27:NM_001139488.1(RASGRP3) c.237-218A>G,NM_001139488.1(RASGRP3) c.237-218A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 2 33745752 . G . . NT END=33747021;NT GT ./. 2 33746806 rs7565568 T A 49 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1787,A/0.8213;PC=0.034;Gene=RASGRP3/NM_170672.2/1;CC=c.369-216T>A;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.369-216T>A;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.369-216T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:13:0:0:13:425:48.70:48.70:0.00:1.00:1.00:0.00:60:75.5:0:0:34:117:20:NM_001139488.1(RASGRP3) c.369-216T>A,NM_001139488.1(RASGRP3) c.369-216T>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 33746842 rs11676264 G C 58 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6993,C/0.3007;Gene=RASGRP3/NM_170672.2/1;CC=c.369-180G>C;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.369-180G>C;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.369-180G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:503:57.91:57.91:0.00:1.00:1.00:0.00:60:69.5:0:0:48:102:26:NM_001139488.1(RASGRP3) c.369-180G>C,NM_001139488.1(RASGRP3) c.369-180G>C:0.33,0.33:NOT_FOUND,NOT_FOUND 2 33747170 . G . . NT END=33748945;NT GT ./. 2 33747285 rs2305573 G A 74 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.1741,A/0.8259;PC=1.000;Gene=RASGRP3/NM_170672.2/1;CC=c.516+116G>A;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.516+116G>A;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.516+116G>A;VC=Intron;DM=RASGRP3/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:1:0:0:21:643:74.29:1.84:72.45:1.00:1.00:1.00:60:35.2:0:0:98:52:27:NM_001139488.1(RASGRP3) c.516+116G>A,NM_001139488.1(RASGRP3) c.516+116G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 33748838 rs2305571 A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7169,G/0.2831;PC=0.003;Gene=RASGRP3/NM_170672.2/1;CC=c.517-108A>G;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.517-108A>G;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.517-108A>G;VC=Intron;DM=RASGRP3/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:16:0:0:10,6:320,211:0.00,19.37:0.00,19.47:0.00,-0.10:0.00,0.95:0.00,0.95:0.00,0.58:60,60:15.7,42.7:0,0:0,0:40,63:110,87:13,15:-,NM_001139488.1(RASGRP3) c.517-108A>G:-,0.32:-,NOT_FOUND 2 33749120 . G . . NT END=33749498;NT GT ./. 2 33749616 . G . . NT END=33752203;NT GT ./. 2 33752129 rs11292992 GC G 82 nt VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=GC/0.8373,G/0.1627;NP=481;PC=0.013;Gene=RASGRP3/NM_170672.2/1;CC=c.808-73delC;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.808-73delC;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.808-73delC;VC=Intron;DM=RASGRP3/RasGEF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:50:46:0:26:24,26:762,848:0.00,82.19:0.00,69.92:0.00,12.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,3.8:0,0:0,0:48,48:102,103:22,31:-,NM_001139488.1(RASGRP3) c.808-74delC:-,0.16:-,NOT_FOUND 2 33752480 . G . . NT END=33759389;NT GT ./. 2 33759468 . G . . NT END=33764160;NT GT ./. 2 33763947 rs7609546 T A 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3235,A/0.6765;Gene=RASGRP3/NM_170672.2/1;CC=c.1162-214T>A;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.1162-214T>A;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.1162-217T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:286:32.89:32.89:0.00:1.00:1.00:0.00:60:36.4:0:0:53:98:26:NM_001139488.1(RASGRP3) c.1162-214T>A,NM_001139488.1(RASGRP3) c.1162-214T>A:0.67,0.67:NOT_FOUND,NOT_FOUND 2 33764278 . G . . NT END=33768578;NT GT ./. 2 33764286 rs7592762 T C 84 nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6699,C/0.3301;Gene=RASGRP3/NM_170672.2/1;CC=c.1278+9T>C;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.1278+9T>C;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.1275+9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:13:0:0:24,12:826,397:84.10,0.00:22.30,0.00:61.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,0.0:0,0:0,0:120,118:27,33:12,27:NM_001139488.1(RASGRP3) c.1278+9T>C,-:0.36,-:0.394955,- 2 33768695 . G . . NT END=33774670;NT GT ./. 2 33774819 . G . . NT END=33780597;NT GT ./. 2 33780635 . G . . NT END=33783277;NT GT ./. 2 33783404 . G . . NT END=33783738;NT GT ./. 2 33784098 . G . . NT END=33787795;NT GT ./. 2 33784135 rs12470399 A G 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.8726,G/0.1274;Gene=RASGRP3/NM_170672.2/1;CC=c.2064+38A>G;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.2064+38A>G;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.2061+38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:8:0:0:19,14:625,460:0.00,42.92:0.00,10.21:0.00,32.70:0.00,1.00:0.00,0.98:0.00,1.00:60,60:30.7,36.4:0,0:0,0:115,118:29,32:21,24:-,NM_001139488.1(RASGRP3) c.2064+38A>G:-,0.12:-,0.101659 2 33784161 rs2278955 G A 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.7508,A/0.2492;Gene=RASGRP3/NM_170672.2/1;CC=c.2064+64G>A;VC=Intron;Gene=RASGRP3/NM_001139488.1/0;CC=c.2064+64G>A;VC=Intron;Gene=RASGRP3/NM_015376.2/0;CC=c.2061+64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:1:0:0:12,12:382,338:36.72,0.00:-0.30,0.00:37.02,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:38.9,28.9:0,0:0,0:115,82:36,68:22,39:NM_001139488.1(RASGRP3) c.2064+64G>A,-:0.27,-:NOT_FOUND,- 2 33787805 . C . . NT END=33809842;NT GT ./. 2 33787976 rs397758583 CCTAA C 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1067;PC=0.013;Gene=RASGRP3/NM_170672.2/1;CC=c.*184_*187delACTA;VC=3UTR;Gene=RASGRP3/NM_001139488.1/0;CC=c.*184_*187delACTA;VC=3UTR;Gene=RASGRP3/NM_015376.2/0;CC=c.*184_*187delACTA;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:7:6:192:22.06:0.00:22.06:1.00:0.00:1.00:60:5.7:0:0:79:70:44:NM_001139488.1(RASGRP3) c.*176ACTA[2],NM_001139488.1(RASGRP3) c.*176ACTA[2]:0.95,0.95:NOT_FOUND,NOT_FOUND 2 33788060 rs574479010 CTT C 16 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CTT/0.2328,C/0.7672;DB;DBA=NA;PAF=CTT/0.2328,C/0.7672;NP=382;PC=0.027;Gene=RASGRP3/NM_170672.2/1;CC=c.*261_*262delTT;VC=3UTR;Gene=RASGRP3/NM_001139488.1/0;CC=c.*261_*262delTT;VC=3UTR;Gene=RASGRP3/NM_015376.2/0;CC=c.*261_*262delTT;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CTT,C:6:0:0:5:1,5:32,143:0.00,15.51:0.00,0.00:0.00,15.51:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,32.6:0,0:0,0:150,105:1,45:0,18:-,NM_001139488.1(RASGRP3) c.*257T[4]:-,NOT_FOUND:-,NOT_FOUND 2 33810512 . C . . NT END=33810596;NT GT ./. 2 33810765 . C . . NT END=33811628;NT GT ./. 2 33811516 rs935625 C G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6186,G/0.3814;Gene=FAM98A/NM_001304538.1/0;CC=c.135+113G>C;VC=Intron;Gene=FAM98A/NM_015475.4/1;CC=c.720+113G>C;VC=Intron;DM=FAM98A/DUF2465;DM=FAM98A/DUF2465 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:15:15:0:0:7,8:229,211:0.00,20.38:0.00,20.38:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.7,29.9:0,0:0,0:54,63:96,87:11,30:-,NM_015475.3(FAM98A) c.720+113G>C:-,0.42:-,NOT_FOUND 2 33811746 . C . . NT END=33812306;NT GT ./. 2 33812388 . C . . NT END=33813401;NT GT ./. 2 33813587 . C . . NT END=33817146;NT GT ./. 2 33817282 . C . . NT END=33820555;NT GT ./. 2 33817369 rs13028004 T C 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.9067,C/0.09325;PC=0.005;Gene=FAM98A/NM_001304538.1/0;CC=c.-198-88A>G;VC=Intron;Gene=FAM98A/NM_015475.4/1;CC=c.203-88A>G;VC=Intron;DM=FAM98A/DUF2465;DM=FAM98A/DUF2465 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:C,T:21:2:0:0:16,5:547,160:57.33,0.00:3.81,0.00:53.52,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:38.5,0.0:0,0:0,0:122,133:27,16:18,13:NM_015475.3(FAM98A) c.203-88A>G,-:0.08,-:NOT_FOUND,- 2 33820705 . C . . NT END=33824235;NT GT ./. 2 33824289 . G . . NT END=36583435;NT GT ./. 2 33952456 rs2367810 C G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.002995,G/0.997;PC=1.000;Gene=LINC01317/NR_126403.1/0;VC=NonCoding;Gene=MYADML/NR_003143.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:136:15.98:15.98:0.00:1.00:1.00:0.00:60:65.0:0:0:12:139:12:NR_003143.2(MYADML) n.829G>C,NR_003143.2(MYADML) n.829G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 33952621 rs11684598 G A 66 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5551,A/0.4449;PC=0.878;Gene=LINC01317/NR_126403.1/0;VC=NonCoding;Gene=MYADML/NR_003143.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:13:0:0:18:576:66.13:41.85:24.28:1.00:1.00:1.00:60:37.0:0:0:63:88:32:NR_003143.2(MYADML) n.664C>T,NR_003143.2(MYADML) n.664C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 2 34065380 rs76645076 A G 18 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.311;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:44:21:0:0:35,9:1185,238:0.00,18.45:0.00,17.69:0.00,0.76:0.00,0.99:0.00,0.97:0.00,0.99:60,52:7.0,237.9:0,0:0,0:90,29:61,121:35,17:-,chr2 g.34065379A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 34065385 rs74197247 T A 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.895;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:23:0:0:11,34:373,1133:31.68,0.00:27.65,0.00:4.03,0.00:1.00,0.00:0.99,0.00:1.00,0.00:52,60:240.9,7.0:0,0:0,0:40,93:111,57:20,35:chr2 g.34065384T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 34065405 . T G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;PC=1.000;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:40:20:0:0:9,31:311,1016:26.13,0.00:23.70,0.00:2.43,0.00:0.99,0.00:0.98,0.00:0.99,0.00:52,60:242.6,5.3:0,0:0,0:52,97:97,53:18,26:chr2 g.34065404T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 34065414 rs371360497 C A 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.971;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:43:21:0:0:11,32:340,1004:28.63,0.00:25.24,0.00:3.39,0.00:1.00,0.00:0.99,0.00:1.00,0.00:52,60:248.5,4.8:0,0:0,0:61,86:88,64:24,39:chr2 g.34065413C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 34065440 . A C 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;PC=0.002;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:22:0:0:30,10:940,287:0.00,23.72:0.00,17.92:0.00,5.80:0.00,1.00:0.00,0.99:0.00,0.99:60,52:2.6,251.1:0,0:0,0:79,79:71,70:47,21:-,chr2 g.34065439A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 34065441 . T C 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;PC=0.102;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:22:0:0:10,29:313,939:26.43,0.00:20.80,0.00:5.63,0.00:1.00,0.00:0.99,0.00:0.99,0.00:52,60:251.1,2.7:0,0:0,0:80,71:69,80:21,39:chr2 g.34065440T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 34065487 rs367667969 A G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:38:24:0:0:31,7:1020,199:0.00,15.37:0.00,12.03:0.00,3.35:0.00,0.94:0.00,0.97:0.00,0.96:60,52:3.0,257.1:0,0:0,0:52,119:98,32:26,17:-,chr2 g.34065486A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 34065511 . T A 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;PC=1.000;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,T:39:26:0:0:6,33:178,1093:13.42,0.00:9.66,0.00:3.76,0.00:0.88,0.00:0.67,0.00:0.92,0.00:40,60:265.7,1.7:0,0:0,0:113,66:35,84:17,26:chr2 g.34065510T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 34065516 . T G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;PC=1.000;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:G,T:40:25:0:0:6,34:195,1119:15.02,0.00:9.98,0.00:5.04,0.00:0.88,0.00:0.95,0.00:0.93,0.00:40,60:265.7,1.7:0,0:0,0:118,71:30,79:17,27:chr2 g.34065515T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 34065523 . A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;PC=1.000;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:38:23:0:0:33,5:1128,166:0.00,12.56:0.00,7.94:0.00,4.62:0.00,0.77:0.00,0.90:0.00,0.91:60,40:1.7,266.8:0,0:0,0:78,118:73,29:26,15:-,chr2 g.34065522A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 34065529 rs112464095 C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.9904,T/0.009585;PC=0.972;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T:36:21:0:0:32,4:998,117:0.00,8.20:0.00,5.33:0.00,2.87:0.00,0.61:0.00,0.83:0.00,0.88:60,40:1.4,268.2:0,0:0,0:83,120:68,28:23,7:-,chr2 g.34065528C>T (intergenic):-,0.12:-,NOT_FOUND 2 34111753 rs182477542 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9535,A/0.04653;NP=12;PC=0.001;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:129:14.81:7.25:7.55:1.00:1.00:1.00:70:56.0:0:0:65:54:35:chr2 g.34111752G>A (intergenic),chr2 g.34111752G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 34111761 rs10638656 C CTCTGTGTG 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=141;Gene=LINC01317/NR_126403.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CTCTGTGTG:4:2:4:0:4:124:14.31:5.11:9.19:1.00:1.00:1.00:70:70.2:0:0:58:58:17:chr2 g.34111761_34111762insTCTGTGTG (intergenic),chr2 g.34111761_34111762insTCTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 34111779 rs4670306 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3407,G/0.6593;PC=0.002;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:135:15.41:5.72:9.69:1.00:1.00:1.00:70:70.2:0:0:84:32:17:chr2 g.34111778A>G (intergenic),chr2 g.34111778A>G (intergenic):0.68,0.68:NOT_FOUND,NOT_FOUND 2 34231413 rs3054673 G GGTGTGTGT 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4239,GGT/.,GGTGTGT/.,GGTGTGTGT/0.5761;DB;DBA=NA;PAF=G/0.4239,GGTGTGTGT/0.5761;NP=1;NP=17;NP=8;Gene=LINC01317/NR_126403.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,GGTGTGTGT:4:3:4:0:1,3:30,131:0.00,10.47:0.00,1.63:0.00,8.84:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,35.0:0,1:0,0:148,73:3,76:0,16:-,chr2 g.34231413_34231414insGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 34316998 rs72788974 A C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,C,I:4:4:2:0:1,2,1:35,67,66:0.00,6.64,2.98:0.00,3.21,1.44:0.00,3.43,1.54:0.00,0.46,0.00:0.00,0.87,0.00:0.00,0.87,0.00:60,60,60:0.0,33.5,105.0:0,0,1:0,0,0:131,49,89:1,86,56:0,2,25:-,chr2 g.34316997A>C (intergenic):-,0.19:-,NOT_FOUND 2 34517466 rs144976721 TTCTCTCTC T 7 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TTCTCTCTC/0.07009,T/0.9299;NP=240;PC=0.007;Gene=LINC01317/NR_126403.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TTCTCTCTC,T:4:4:0:3:2,2:67,93:0.00,6.51:0.00,3.04:0.00,3.48:0.00,0.46:0.00,0.87:0.00,0.80:60,60:34.5,98.0:0,1:0,0:72,94:78,57:40,20:-,chr2 g.34517467_34517474delTCTCTCTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 34517511 rs74177033 A G 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=227;PC=0.031;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:4:4:0:0:2,2:64,66:0.00,6.35:0.00,3.02:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.89:60,60:34.5,66.5:0,0:0,0:108,100:42,31:39,30:-,chr2 g.34517510A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 34517513 rs62161759 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3492,GCA/0.6508;DB;DBA=NA;PAF=G/0.3492,GCA/0.6508;DB;DBA=NA;PAF=NA;NP=119;NP=237;PC=0.031;Gene=LINC01317/NR_126403.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:4:4:0:0:2,2:70,61:6.75,0.00:3.22,0.00:3.53,0.00:0.51,0.00:0.51,0.00:0.89,0.00:60,60:66.0,34.0:0,0:0,0:102,87:29,62:30,62:chr2 g.34517512G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 34596225 rs12712384 C G 10 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6637,G/0.3363;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,G:5:3:0:0:2,3:60,101:0.00,10.07:0.00,8.94:0.00,1.13:0.00,0.78:0.00,0.94:0.00,0.94:60,60:0.0,38.3:0,0:0,0:77,97:73,52:42,0:-,chr2 g.34596224C>G (intergenic):-,0.36:-,NOT_FOUND 2 34872262 rs149066724 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7129,G/0.2871;NP=181;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:108:12.69:8.76:3.93:1.00:1.00:1.00:60:53.5:2:0:61:85:10:chr2 g.34872261A>G (intergenic),chr2 g.34872261A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 35128956 rs70940283 T G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.531,G/0.469;DB;DBA=NA;PAF=T/0.7572,TGT/.,TGTGG/0.2428 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:4:3:0:0:3,1:102,33:10.65,0.00:3.45,0.00:7.20,0.00:0.85,0.00:0.99,0.00:0.85,0.00:60,60:41.7,0.0:0,0:0,0:94,45:33,82:38,0:chr2 g.35128955T>G (intergenic),-:0.38,-:NOT_FOUND,- 2 35539986 rs34169999 A G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7576,G/0.2424 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:4:4:0:0:2,2:64,70:0.00,6.75:0.00,6.75:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,35.0:0,0:0,0:68,19:82,131:13,4:-,chr2 g.35539985A>G (intergenic):-,0.3:-,NOT_FOUND 2 35540102 rs57031285 A AACAC 10 idl,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5485,AAA/.,AAC/.,AACAC/.,AACACAC/.,AACACACAC/0.4515,AACACACACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=7;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,AACAC:5:5:5:0:2,3:63,162:0.00,9.54:0.00,4.77:0.00,4.77:0.00,0.69:0.00,0.93:0.00,0.93:60,60:35.0,26.7:0,2:0,0:135,52:15,98:4,26:-,chr2 g.35540102_35540103insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 35890349 . T TG 7 idl,nt VT=INS;SST=Single;DP=5;NP=6;PC=0.005;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:T,TG:3:4:4:0:1,2:27,130:0.00,6.64:0.00,4.90:0.00,1.74:0.00,0.46:0.00,0.87:0.00,0.70:60,60:34.0,49.0:0,3:0,0:150,56:1,85:0,29:-,chr2 g.35890349_35890350insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 36213963 rs370538095 A AACAAACAC 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=2;NP=2;NP=7;NP=7;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,AACAAACAC:7:4:3:1:4,3:109,95:0.00,8.87:0.00,3.17:0.00,5.70:0.00,0.69:0.00,0.89:0.00,0.69:60,70:0.0,10.7:0,0:0,0:17,81:125,70:4,34:-,chr2 g.36213963_36213964insACAAACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 36583342 rs201258494 T TGCG 30 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.7103,TGCG/0.2897;NP=50;PC=0.995;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TGCG:31:31:11:0:1,19,11:29,503,335:1.62,0.00,30.20:1.62,0.00,30.20:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:73.0,16.3,17.9:0,1,0:0,0,0:0,56,29:151,94,122:0,32,7:-,NM_016441.2(CRIM1) c.-66-u28_-66-u27insGCG:-,0.24:-,NOT_FOUND 2 36583767 . G . . NT END=36623756;NT GT ./. 2 36623931 . G . . NT END=36668400;NT GT ./. 2 36624137 rs3821164 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7742,A/0.2258;Gene=CRIM1/NM_016441.2/1;CC=c.505+207G>A;VC=Intron;DM=CRIM1/VWC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:8:0:0:0:4,4:131,134:12.60,0.00:0.00,0.00:12.60,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:35.8,0.0:0,0:0,0:82,123:69,27:55,5:NM_016441.2(CRIM1) c.505+207G>A,-:0.23,-:NOT_FOUND,- 2 36668395 rs2276673 T A 154 nt VT=SNV;PN=C;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.6997,A/0.3003;PC=0.617;Gene=CRIM1/NM_016441.2/1;CC=c.506-6T>A;VC=Intron;DM=CRIM1/VWC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:105:83:0:0:50,1,1,53:1607,36,6,1775:153.52,1.85,-0.20,0.00:110.74,-0.14,-0.11,0.00:42.77,1.99,-0.09,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:39.3,36.0,83.0,4.0:0,0,0,0:0,0,0,0:45,41,130,79:89,110,21,72:31,0,0,37:NM_016441.2(CRIM1) c.506-6T>A,-:0.29,-:0.178687,- 2 36668644 . G . . NT END=36669757;NT GT ./. 2 36668846 rs3770885 G A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7115,A/0.2885;PC=0.001;Gene=CRIM1/NM_016441.2/1;CC=c.748+203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:14:0:0:0:5,9:136,277:12.02,0.00:0.00,0.00:12.02,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:27.2,25.6:0,0:0,0:99,121:50,30:33,22:NM_016441.2(CRIM1) c.748+203G>A,-:0.28,-:NOT_FOUND,- 2 36669645 rs17018798 T C 49 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6959,C/0.3041;PC=0.002;Gene=CRIM1/NM_016441.2/1;CC=c.749-113T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:33:0:0:16,18:513,483:48.75,0.00:46.05,0.00:2.69,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:80.3,12.0:0,0:0,0:22,38:129,112:10,21:NM_016441.2(CRIM1) c.749-113T>C,-:0.3,-:NOT_FOUND,- 2 36669670 rs3821157 C A 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7005,A/0.2995;Gene=CRIM1/NM_016441.2/1;CC=c.749-88C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:46:43:0:0:18,28:564,920:51.60,0.00:41.05,0.00:10.55,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:71.1,8.0:0,0:0,0:46,38:105,112:11,22:NM_016441.2(CRIM1) c.749-88C>A,-:0.29,-:NOT_FOUND,- 2 36669879 . G . . NT END=36691676;NT GT ./. 2 36691799 . G . . NT END=36704031;NT GT ./. 2 36691951 rs711252 A C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=CRIM1/NM_016441.2/1;CC=c.991+153A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:1:0:0:11,7:389,220:0.00,20.12:0.00,-0.11:0.00,20.22:0.00,0.98:0.00,0.59:0.00,0.98:60,60:1.1,33.0:0,0:0,0:72,78:78,71:53,32:-,NM_016441.2(CRIM1) c.991+153A>C:-,0.64:-,NOT_FOUND 2 36698904 rs72156127 C A 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4509,A/0.5491;DB;DBA=NA;PAF=NA;NP=7;PC=0.007;Gene=CRIM1/NM_016441.2/1;CC=c.992-5128C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:A,C:9:4:0:0:5,4:169,138:16.60,0.00:9.03,0.00:7.57,0.00:0.96,0.00:0.96,0.00:0.99,0.00:70,60:58.4,5.2:0,0:0,0:101,96:47,54:13,10:NM_016441.2(CRIM1) c.992-5128C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 36704144 rs848547 C T 181 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.3864,T/0.6136;Gene=CRIM1/NM_016441.2/1;CC=c.1104C>T;ProtCh=p.T368=;VC=Silent;DM=CRIM1/VWC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:98:68:0:0:44,54:1407,1848:0.00,181.27:0.00,89.48:0.00,91.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,43.5:0,0:0,0:63,54:84,87:28,32:-,NM_016441.2(CRIM1) c.1104C>T (p.(=)):-,0.6:-,0.515762 2 36704215 . G . . NT END=36706639;NT GT ./. 2 36706421 rs711251 C G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7402,G/0.2598;PC=0.005;Gene=CRIM1/NM_016441.2/1;CC=c.1175-219C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:14:14:0:0:7,7:239,220:0.00,21.10:0.00,21.10:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.7,71.4:0,0:0,0:69,11:82,140:26,5:-,NM_016441.2(CRIM1) c.1175-219C>G:-,0.25:-,NOT_FOUND 2 36706511 rs711250 G C 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5715,C/0.4285;PC=0.008;Gene=CRIM1/NM_016441.2/1;CC=c.1175-129G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:19:0:0:10,9:298,268:28.87,0.00:28.87,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:57.8,1.4:0,0:0,0:88,49:62,102:22,20:NM_016441.2(CRIM1) c.1175-129G>C,-:0.39,-:NOT_FOUND,- 2 36706838 . G . . NT END=36726361;NT GT ./. 2 36707037 rs848542 A G 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.003395,G/0.9966;NP=1244;PC=0.146;Gene=CRIM1/NM_016441.2/1;CC=c.1372+200A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:0:0:0:15:480:55.12:0.00:55.12:1.00:0.00:1.00:60:55.5:0:0:83:57:31:NM_016441.2(CRIM1) c.1372+200A>G,NM_016441.2(CRIM1) c.1372+200A>G:1,1:NOT_FOUND,NOT_FOUND 2 36726491 . G . . NT END=36737125;NT GT ./. 2 36737283 . G . . NT END=36739415;NT GT ./. 2 36739538 . G . . NT END=36740698;NT GT ./. 2 36739553 rs848526 T C 327 nt VT=SNV;PN=A;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.1661,C/0.8339,G/.;Gene=CRIM1/NM_016441.2/1;CC=c.1780+16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:91:46:0:0:91:2834:326.69:113.25:213.44:1.00:1.00:1.00:60:39.1:0:0:96:48:29:NM_016441.2(CRIM1) c.1780+16T>C,NM_016441.2(CRIM1) c.1780+16T>C:0.8,0.8:0.762571,0.762571 2 36740643 rs2293254 C G 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.6773,G/0.3227;PC=0.001;Gene=CRIM1/NM_016441.2/1;CC=c.1781-56C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:39:38:0:0:20,19:696,620:0.00,59.33:0.00,57.11:0.00,2.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,42.1:0,0:0,0:56,81:94,69:27,35:-,NM_016441.2(CRIM1) c.1781-56C>G:-,0.32:-,NOT_FOUND 2 36740909 . G . . NT END=36744469;NT GT ./. 2 36744686 . G . . NT END=36749234;NT GT ./. 2 36745012 rs2287082 C A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.763,A/0.237;PC=0.003;Gene=CRIM1/NM_016441.2/1;CC=c.2206+327C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,C:8:0:0:0:6,2:199,62:20.81,0.00:0.00,0.00:20.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.5,0.0:0,0:0,0:131,89:18,61:9,47:NM_016441.2(CRIM1) c.2206+327C>A,-:0.25,-:NOT_FOUND,- 2 36749457 . G . . NT END=36764494;NT GT ./. 2 36764690 . G . . NT END=36771518;NT GT ./. 2 36771309 rs12712508 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5549,G/0.4451;Gene=CRIM1/NM_016441.2/1;CC=c.2624-210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:A,G:11:11:0:0:5,6:170,144:0.00,13.87:0.00,13.87:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:2.0,51.5:0,0:0,0:71,74:80,76:37,40:-,NM_016441.2(CRIM1) c.2624-210A>G:-,0.46:-,NOT_FOUND 2 36771642 . G . . NT END=36774126;NT GT ./. 2 36774315 . G . . NT END=36775667;NT GT ./. 2 36775845 . A . . NT END=36780305;NT GT ./. 2 36780323 . C . . NT END=36782825;NT GT ./. 2 36782656 rs10178965 G A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.725,A/0.275;Gene=FEZ2/NM_001042548.1/1;CC=c.1126+170C>T;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.1045+170C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,G:7:7:0:0:4,3:132,106:13.03,0.00:13.03,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:33.0,0.0:0,0:0,0:81,33:69,117:34,9:NM_001042548.1(FEZ2) c.1126+170C>T,-:0.28,-:NOT_FOUND,- 2 36782892 . C . . NT END=36785580;NT GT ./. 2 36785398 rs10178002 A G 10 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4563,G/0.5437;Gene=FEZ2/NM_001042548.1/1;CC=c.1060+183T>C;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.979+183T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:4:0:0:1,3:34,97:0.00,10.15:0.00,10.15:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,32.3:0,0:0,0:60,7:90,143:0,1:-,NM_001042548.1(FEZ2) c.1060+183T>C:-,0.53:-,NOT_FOUND 2 36785657 . C . . NT END=36787927;NT GT ./. 2 36785667 . TA T 7 rn VT=DEL;SST=Single;DP=36;NP=10;PC=1.000;Gene=FEZ2/NM_001042548.1/1;CC=c.985-12delT;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.904-12delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:TA,I,T:36:25:3:3:30,3,3:983,89,98:0.00,5.97,6.86:0.00,0.83,2.13:0.00,5.13,4.73:0.00,0.00,0.39:0.00,0.00,0.77:0.00,0.00,0.81:60,60,60:4.5,44.7,0.0:0,0,0:0,0,0:114,105,110:34,45,22:20,21,6:-,NM_001042548.1(FEZ2) c.985-12delT:-,NOT_FOUND:-,0.028162 2 36788009 . C . . NT END=36805739;NT GT ./. 2 36805676 rs2075226 A G 124 nt VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.51,G/0.49;Gene=FEZ2/NM_001042548.1/1;CC=c.903+64T>C;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.903+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:73:0:0:34,42:1075,1267:0.00,124.05:0.00,103.77:0.00,20.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,38.9:0,0:0,0:72,36:79,113:45,23:-,NM_001042548.1(FEZ2) c.903+64T>C:-,0.49:-,NOT_FOUND 2 36806009 . C . . NT END=36808432;NT GT ./. 2 36806021 rs2072534 G A 108 nt VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.528,A/0.472;PC=0.166;Gene=FEZ2/NM_001042548.1/1;CC=c.635-13C>T;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.635-13C>T;VC=Intron;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:27:0:0:38,36:1121,1153:107.92,0.00:29.59,0.00:78.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.7,6.9:0,0:0,0:94,87:42,61:35,28:NM_001042548.1(FEZ2) c.635-13C>T,-:0.48,-:0.407,- 2 36806051 rs2072533 A G 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.5242,G/0.4758;Gene=FEZ2/NM_001042548.1/1;CC=c.635-43T>C;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.635-43T>C;VC=Intron;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:17:0:0:33,26:1035,767:0.00,71.44:0.00,9.89:0.00,61.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,65.7:0,0:0,0:101,101:43,38:28,25:-,NM_001042548.1(FEZ2) c.635-43T>C:-,0.49:-,0.410594 2 36808350 rs848638 C T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4257,T/0.5743;Gene=FEZ2/NM_001042548.1/1;CC=c.634+83G>A;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.634+83G>A;VC=Intron;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:19:0:0:12,9:370,281:0.00,26.17:0.00,18.91:0.00,7.26:0.00,1.00:0.00,1.00:0.00,0.98:60,60:11.7,33.8:0,0:0,0:39,45:111,106:32,39:-,NM_001042548.1(FEZ2) c.634+83G>A:-,0.59:-,NOT_FOUND 2 36808575 . C . . NT END=36810495;NT GT ./. 2 36808732 rs848637 T G 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1727,G/0.8273;Gene=FEZ2/NM_001042548.1/1;CC=c.493-158A>C;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.493-158A>C;VC=Intron;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:0:0:0:9,12:302,319:28.29,0.00:0.00,0.00:28.29,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.6,18.2:0,0:0,0:104,77:44,73:20,59:NM_001042548.1(FEZ2) c.493-158A>C,-:0.81,-:NOT_FOUND,- 2 36810473 rs11691767 G T 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=FEZ2/NM_001042548.1/1;CC=c.492+23C>A;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.492+23C>A;VC=Intron;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:24:0:0:16,12:512,386:0.00,36.00:0.00,23.50:0.00,12.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,46.4:0,0:0,0:52,44:96,100:29,30:-,NM_001042548.1(FEZ2) c.492+23C>A:-,0.21:-,0.235929 2 36810586 rs14291 T C 54 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.5713,C/0.4287,G/.;PC=0.025;Gene=FEZ2/NM_001042548.1/1;CC=c.402A>G;ProtCh=p.T134=;VC=Silent;Gene=FEZ2/NM_005102.2/0;CC=c.402A>G;ProtCh=p.T134=;VC=Silent;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:27:0:0:18,28:592,915:54.42,0.00:23.79,0.00:30.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.4,3.2:0,0:0,0:86,82:56,53:31,28:NM_001042548.1(FEZ2) c.402A>G (p.(=)),-:0.43,-:0.390918,- 2 36810613 . C . . NT END=36818045;NT GT ./. 2 36810769 rs848619 T C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3826,C/0.6174;Gene=FEZ2/NM_001042548.1/1;CC=c.376-157A>G;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.376-157A>G;VC=Intron;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,T:9:0:0:0:4,5:137,150:12.93,0.00:0.00,0.00:12.93,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:41.2,14.2:0,0:0,0:131,72:20,79:14,10:NM_001042548.1(FEZ2) c.376-157A>G,-:0.62,-:NOT_FOUND,- 2 36818155 . C . . NT END=36825019;NT GT ./. 2 36824956 rs5830430 G GC 337 nt VT=INS;SST=Single;DP=99;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.006;Gene=FEZ2/NM_001042548.1/1;CC=c.266+63dupG;VC=Intron;Gene=FEZ2/NM_005102.2/0;CC=c.266+63dupG;VC=Intron;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,GC:99:93:94:0:3,2,94:50,37,2968:2.35,0.00,337.19:1.99,0.00,268.98:0.36,0.00,68.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:86.0,48.5,8.4:1,1,0:0,0,0:1,95,36:149,55,112:1,52,20:NM_001042548.1(FEZ2) c.266+63_266+64insG,NM_001042548.1(FEZ2) c.266+63_266+64insG:0.99,0.99:NOT_FOUND,NOT_FOUND 2 36825137 rs1544655 G A 247 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=G/0.1304,A/0.8696;PC=1.000;Gene=FEZ2/NM_001042548.1/1;CC=c.149C>T;ProtCh=p.P50L;VC=Missense;Gene=FEZ2/NM_005102.2/0;CC=c.149C>T;ProtCh=p.P50L;VC=Missense;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:181:120:0:0:80,101:2626,3064:246.94,0.00:91.39,0.00:155.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.8,10.8:0,0:0,0:64,59:80,84:30,30:NM_001042548.1(FEZ2) c.149C>T (p.Pro50Leu),-:0.82,-:NOT_FOUND,- 2 36825170 rs2287104 T C 231 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=178;DB;DBA=NA;PAF=T/0.1414,C/0.8586;PC=0.001;Gene=FEZ2/NM_001042548.1/1;CC=c.116A>G;ProtCh=p.E39G;VC=Missense;Gene=FEZ2/NM_005102.2/0;CC=c.116A>G;ProtCh=p.E39G;VC=Missense;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ;DM=FEZ2/FEZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:178:107:0:0:77,1,100:2473,8,3196:231.44,-0.22,0.00:80.27,-0.11,0.00:151.17,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:73.2,44.0,15.0:0,0,0:0,0,0:77,28,86:72,123,57:32,0,30:NM_001042548.1(FEZ2) c.116A>G (p.Glu39Gly),-:0.79,-:NOT_FOUND,- 2 36825286 . C . . NT END=36943513;NT GT ./. 2 36825330 rs555617731 C CG 369 nt VT=INS;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.003594,CG/0.9964;DB;DBA=NA;PAF=C/0.003594,CG/0.9964,CGGCCCAGCCCG/.;NP=248;PC=0.019;Gene=FEZ2/NM_001042548.1/1;CC=c.-46_-45insC;VC=5UTR;Gene=FEZ2/NM_005102.2/0;CC=c.-46_-45insC;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C,CG:117:48:108:0:9,108:198,3306:0.00,369.34:0.00,84.68:0.00,284.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.6,16.4:2,0:0,0:108,97:3,38:30,27:NM_001042548.1(FEZ2) c.-46dupC,NM_001042548.1(FEZ2) c.-46dupC:NOT_FOUND,NOT_FOUND:0.980447,0.980447 2 36825359 . G GCCCCGC 76 sb,nt VT=INS;SST=Single;DP=94;NP=5;PC=0.018;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GCCCCGC:94:11:28:0:1,65,28:11,2136,875:-0.17,0.00,76.17:0.11,0.00,-0.92:-0.28,0.00,77.09:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:50.0,17.6,4.9:0,1,0:0,0,0:134,108,83:17,23,67:0,26,29:-,NM_001042548.1(FEZ2) c.-47-u28_-47-u27insGCGGGG:-,NOT_FOUND:-,NOT_FOUND 2 36825374 . G C 14 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:C,G,T:82:5:0:0:8,72,2:219,2355,22:14.47,0.00,-0.22:0.93,0.00,0.35:13.54,0.00,-0.57:0.93,0.00,0.00:0.39,0.00,0.00:1.00,0.00,0.00:60,60,60:35.5,12.1,52.0:0,0,0:0,0,0:149,97,95:2,49,56:0,36,11:NM_001042548.1(FEZ2) c.-47-u42C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 36889860 rs10167208 G A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.647,A/0.353;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:86.5:0:0:62:88:17:chr2 g.36889859G>A (intergenic),chr2 g.36889859G>A (intergenic):0.34,0.34:NOT_FOUND,NOT_FOUND 2 36943338 rs4670597 C G 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.08446,G/0.9155;PC=0.001;Gene=VIT/NM_001177972.1/0;CC=c.-18-158C>G;VC=Intron;Gene=VIT/NM_001177969.1/0;CC=c.-18-158C>G;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.-18-158C>G;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.-18-158C>G;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.-18-158C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:430:49.20:49.20:0.00:1.00:1.00:0.00:60:58.4:0:0:47:104:22:NM_053276.3(VIT) c.-18-158C>G,NM_053276.3(VIT) c.-18-158C>G:0.93,0.93:NOT_FOUND,NOT_FOUND 2 36943419 rs4670598 T C 106 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.08506,C/0.9149;PC=0.007;Gene=VIT/NM_001177972.1/0;CC=c.-18-77T>C;VC=Intron;Gene=VIT/NM_001177969.1/0;CC=c.-18-77T>C;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.-18-77T>C;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.-18-77T>C;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.-18-77T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:26:0:0:29:921:105.90:84.57:21.33:1.00:1.00:1.00:60:47.0:0:0:57:94:44:NM_053276.3(VIT) c.-18-77T>C,NM_053276.3(VIT) c.-18-77T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 36943566 . G . . NT END=36956568;NT GT ./. 2 36944550 rs70946945 GGGGTTTCACCGTGTGAGACA G 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GGGGTTTCACCGTGTGAGACA/0.6312,G/0.3688;DB;DBA=NA;PAF=GGGGTTTCACCGTGTGAGACA/0.6312,G/0.3688;NP=201;PC=0.094;Gene=VIT/NM_001177972.1/0;CC=c.52+1000_52+1019delGAGACAGGGTTTCACCGTGT;VC=Intron;Gene=VIT/NM_001177969.1/0;CC=c.52+1000_52+1019delGAGACAGGGTTTCACCGTGT;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.52+1000_52+1019delGAGACAGGGTTTCACCGTGT;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.52+1000_52+1019delGAGACAGGGTTTCACCGTGT;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.52+1000_52+1019delGAGACAGGGTTTCACCGTGT;VC=Intron;DM=VIT/VWA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:GGGGTTTCACCGTGTGAGACA,G:4:1:0:2:2,2:65,67:0.00,6.45:0.00,3.48:0.00,2.97:0.00,0.51:0.00,0.67:0.00,0.89:60,60:11.0,0.0:0,0:0,0:82,51:42,99:9,9:-,NM_053276.3(VIT) c.52+986_52+1005delGGGTTTCACCGTGTGAGACA:-,NOT_FOUND:-,NOT_FOUND 2 36956635 . G . . NT END=36970242;NT GT ./. 2 36970400 . G . . NT END=36982063;NT GT ./. 2 36981918 rs2072524 G C 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5561,C/0.4439;PC=0.002;Gene=VIT/NM_001177972.1/0;CC=c.276-146G>C;VC=Intron;Gene=VIT/NM_001177969.1/0;CC=c.276-146G>C;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.276-146G>C;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.276-146G>C;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.276-146G>C;VC=Intron;DM=VIT/VWA;DM=VIT/LCCL;DM=VIT/LCCL;DM=VIT/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:13:13:0:0:7,6:222,192:21.63,0.00:21.63,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:44.9,9.7:0,0:0,0:118,79:33,71:24,22:NM_053276.3(VIT) c.276-146G>C,-:0.43,-:NOT_FOUND,- 2 36982198 . G . . NT END=36986111;NT GT ./. 2 36986088 rs376844939 G GT 20 rn VT=INS;SST=Single;DP=81;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=70;Gene=VIT/NM_001177972.1/0;CC=c.410-14dupT;VC=Intron;Gene=VIT/NM_001177969.1/0;CC=c.410-14dupT;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.410-14dupT;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.410-14dupT;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.410-14dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:G,GT,D:81:78:10:1:70,10,1:1992,282,33:0.00,19.95,1.50:0.00,18.97,1.54:0.00,0.98,-0.04:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.76,0.00:60,70,60:15.8,33.7,0.0:1,0,0:0,0,0:47,60,124:96,89,25:34,23,0:-,NM_053276.3(VIT) c.410-24_410-23insT:-,0.09:-,NOT_FOUND 2 36986549 rs10179289 A G 489 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=A/0.03574,G/0.9643;PC=0.001;Gene=VIT/NM_001177972.1/0;CC=c.*235A>G;VC=3UTR;Gene=VIT/NM_001177969.1/0;CC=c.487+360A>G;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.487+360A>G;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.487+360A>G;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.487+360A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:133:74:0:0:1,132:12,4269:0.13,489.16:0.13,211.80:0.00,277.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:108.0,40.8:0,0:0,0:136,72:13,75:0,42:NM_053276.3(VIT) c.487+360A>G,NM_053276.3(VIT) c.487+360A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 36986819 . T . . NT END=36994236;NT GT ./. 2 36987058 rs6544033 A C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01777,C/0.9822;PC=0.013;Gene=VIT/NM_001177969.1/0;CC=c.487+869A>C;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.487+869A>C;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.487+869A>C;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.487+869A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:131:15.43:0.00:15.43:1.00:0.00:1.00:70:43.8:0:0:86:65:45:NM_053276.3(VIT) c.487+869A>C,NM_053276.3(VIT) c.487+869A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 36994429 . G . . NT END=37000933;NT GT ./. 2 36994439 rs11124542 A C 326 nt VT=SNV;PN=T;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.5292,C/0.4708;Gene=VIT/NM_001177969.1/0;CC=c.679+11A>C;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.679+11A>C;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.679+11A>C;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.679+11A>C;VC=Intron;DM=VIT/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:92:24:0:0:92:2820:325.70:52.19:273.52:1.00:1.00:1.00:60:35.9:0:0:107:40:33:NM_053276.3(VIT) c.679+11A>C,NM_053276.3(VIT) c.679+11A>C:0.45,0.45:0.459557,0.459557 2 37000991 . G . . NT END=37001686;NT GT ./. 2 37001570 rs974964 C T 161 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.05631,T/0.9437;Gene=VIT/NM_001177969.1/0;CC=c.737-575C>T;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.737-575C>T;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.736+580C>T;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.737-575C>T;VC=Intron;DM=VIT/VWA;DM=VIT/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:43:0:0:44:1404:161.38:146.17:15.21:1.00:1.00:1.00:60:45.2:0:0:47:103:36:NM_053276.3(VIT) c.737-575C>T,NM_053276.3(VIT) c.737-575C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 37001815 rs77219548 G A 222 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=174;DB;DBA=NA;PAF=G/0.9395,A/0.0605;PC=0.003;Gene=VIT/NM_001177969.1/0;CC=c.737-330G>A;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.737-330G>A;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.736+825G>A;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.737-330G>A;VC=Intron;DM=VIT/VWA;DM=VIT/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:174:117:0:0:79,95:2368,3153:222.31,0.00:114.35,0.00:107.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.9,6.6:0,0:0,0:87,75:59,72:33,39:NM_053276.3(VIT) c.737-330G>A,-:0.03,-:NOT_FOUND,- 2 37002061 . G . . NT END=37002144;NT GT ./. 2 37002211 . G . . NT END=37008869;NT GT ./. 2 37008915 . G . . NT END=37010482;NT GT ./. 2 37010546 . G . . NT END=37014271;NT GT ./. 2 37010574 rs3821147 G A 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5034,A/0.4966;PC=0.002;Gene=VIT/NM_001177969.1/0;CC=c.865+29G>A;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.803-3698G>A;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.799+29G>A;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.910+29G>A;VC=Intron;DM=VIT/VWA;DM=VIT/VWA;DM=VIT/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:24:0:0:20,21:669,631:64.14,0.00:27.27,0.00:36.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.9,16.0:0,0:0,0:107,101:37,46:15,25:NM_053276.3(VIT) c.910+29G>A,-:0.57,-:0.499308,- 2 37014420 . G . . NT END=37028443;NT GT ./. 2 37028548 . G . . NT END=37032580;NT GT ./. 2 37032451 rs567911067 G GA 36 idl,rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.5627,GA/0.4373;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5627,GA/0.4373,GAA/.;NP=1;NP=43;NP=6;PC=0.001;Gene=VIT/NM_001177969.1/0;CC=c.1118-111_1118-110insA;VC=Intron;Gene=VIT/NM_001177970.1/0;CC=c.1055-111_1055-110insA;VC=Intron;Gene=VIT/NM_001177971.1/0;CC=c.1052-111_1052-110insA;VC=Intron;Gene=VIT/NM_053276.3/1;CC=c.1163-111_1163-110insA;VC=Intron;DM=VIT/VWA;DM=VIT/VWA;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:34:42:19:4:19,12,3:605,619,129:0.00,35.52,6.98:0.00,35.52,6.98:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:13.8,59.3,32.3:0,7,1:0,0,0:98,26,30:52,125,120:33,20,6:-,NM_053276.3(VIT) c.1163-130_1163-129insA:-,NOT_FOUND:-,NOT_FOUND 2 37032808 . G . . NT END=37035614;NT GT ./. 2 37036129 . G . . NT END=37041325;NT GT ./. 2 37041505 . A . . NT END=37076598;NT GT ./. 2 37073027 rs10539790 AAC A 14 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AAC/0.1785,A/0.8215;NP=201;PC=0.002;Gene=STRN/NM_003162.3/1;CC=c.*3570_*3571delGT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:4:4:118:13.70:11.03:2.67:1.00:1.00:1.00:60:22.2:0:0:53:83:13:NM_003162.3(STRN) c.*3550GT[10],NM_003162.3(STRN) c.*3550GT[10]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 37076769 . C . . NT END=37076856;NT GT ./. 2 37076944 . C . . NT END=37078142;NT GT ./. 2 37077015 rs723674 C A 104 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.0629,A/0.9371;Gene=STRN/NM_003162.3/1;CC=c.2087-72G>T;VC=Intron;DM=STRN/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:2:0:0:28:910:104.35:5.47:98.89:1.00:1.00:1.00:60:38.9:0:0:114:33:20:NM_003162.3(STRN) c.2087-72G>T,NM_003162.3(STRN) c.2087-72G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 37078095 rs55758437 A ATT 23 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=281;NP=77;PC=0.001;Gene=STRN/NM_003162.3/1;CC=c.2086+46_2086+47dupAA;VC=Intron;DM=STRN/WD40;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,ATT:10:11:9:0:3,7:79,293:0.00,23.36:0.00,23.74:0.00,-0.38:0.00,0.99:0.00,1.00:0.00,0.72:60,60:58.3,8.0:1,2:0,0:89,36:62,114:6,15:-,NM_003162.3(STRN) c.2086+47_2086+48insAA:-,NOT_FOUND:-,NOT_FOUND 2 37078251 . C . . NT END=37082354;NT GT ./. 2 37082496 . C . . NT END=37084998;NT GT ./. 2 37082688 rs116125323 C T 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9946,T/0.005391;NP=18;Gene=STRN/NM_003162.3/1;CC=c.1838-193G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:7:0:0:0:2,5:66,160:0.00,16.57:0.00,0.00:0.00,16.57:0.00,0.98:0.00,0.00:0.00,0.98:60,60:32.5,58.4:0,0:0,0:88,111:62,40:41,22:-,NM_003162.3(STRN) c.1838-193G>A:-,0.01:-,NOT_FOUND 2 37082695 rs998321 C T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1887,T/0.8113;Gene=STRN/NM_003162.3/1;CC=c.1838-200G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:54.8:0:0:117:33:21:NM_003162.3(STRN) c.1838-200G>A,NM_003162.3(STRN) c.1838-200G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 2 37085167 . C . . NT END=37088274;NT GT ./. 2 37088083 rs2540935 C T 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.07049,T/0.9295;Gene=STRN/NM_003162.3/1;CC=c.1669+192G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:313:36.07:36.07:0.00:1.00:1.00:0.00:60:54.2:0:0:25:126:21:NM_003162.3(STRN) c.1669+192G>A,NM_003162.3(STRN) c.1669+192G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 37088397 . C . . NT END=37094956;NT GT ./. 2 37094945 rs2540923 A G 99 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.09265,G/0.9073;Gene=STRN/NM_003162.3/1;CC=c.1547+12T>C;VC=Intron;DM=STRN/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G,T:26:22:0:0:25,1:877,9:99.20,0.24:65.54,0.24:33.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,48.0:0,0:0,0:58,25:92,125:27,0:NM_003162.3(STRN) c.1547+12T>C,NM_003162.3(STRN) c.1547+12T>C:0.93,0.93:0.903588,0.903588 2 37095005 . C . . NT END=37096696;NT GT ./. 2 37095139 rs6752845 G C 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5599,C/0.4401;Gene=STRN/NM_003162.3/1;CC=c.1500-135C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,G:12:0:0:0:6,6:172,208:16.43,0.00:0.00,0.00:16.43,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:33.8,6.0:0,0:0,0:52,114:98,37:35,20:NM_003162.3(STRN) c.1500-135C>G,-:0.45,-:NOT_FOUND,- 2 37096873 . C . . NT END=37105033;NT GT ./. 2 37096970 rs2160379 C T 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.1911,T/0.8089;Gene=STRN/NM_003162.3/1;CC=c.1324-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A,T:29:2:0:0:1,28:11,912:0.33,104.12:0.00,3.86:0.33,100.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:121.0,45.1:0,0:0,0:51,117:96,33:0,23:NM_003162.3(STRN) c.1324-98G>A,NM_003162.3(STRN) c.1324-98G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 2 37097009 rs2110942 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.5631,C/0.4369;Gene=STRN/NM_003162.3/1;CC=c.1324-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:0:0:0:7,9:195,285:18.08,0.00:0.00,0.00:18.08,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:70.1,37.2:0,0:0,0:90,129:59,22:42,10:NM_003162.3(STRN) c.1324-137A>G,-:0.44,-:NOT_FOUND,- 2 37105171 . C . . NT END=37111074;NT GT ./. 2 37111045 rs2691106 T A 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.6625,A/0.3375;PC=0.026;Gene=STRN/NM_003162.3/1;CC=c.1186+30A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:50:47:0:0:28,22:844,711:82.70,0.00:70.26,0.00:12.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,1.1:0,0:0,0:50,55:95,94:20,37:NM_003162.3(STRN) c.1186+30A>T,-:0.38,-:0.422959,- 2 37111219 . C . . NT END=37113858;NT GT ./. 2 37113970 . C . . NT END=37121040;NT GT ./. 2 37121177 . C . . NT END=37126665;NT GT ./. 2 37126802 . C . . NT END=37129726;NT GT ./. 2 37129618 rs148671880 A ATAAT 62 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.05471,ATAAT/0.9453,ATTAA/.;NP=1789;PC=0.001;Gene=STRN/NM_003162.3/1;CC=c.659+108_659+109insATTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:ATAAT:17:17:17:0:17:535:61.60:61.60:0.00:1.00:1.00:0.00:60:1.4:0:0:55:96:37:NM_003162.3(STRN) c.659+108_659+109insATTA,NM_003162.3(STRN) c.659+108_659+109insATTA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 37129895 . C . . NT END=37132682;NT GT ./. 2 37132762 . C . . NT END=37143220;NT GT ./. 2 37143295 . C . . NT END=37152247;NT GT ./. 2 37152352 . C . . NT END=37193372;NT GT ./. 2 37193665 . G . . NT END=37208632;NT GT ./. 2 37208938 . C . . NT END=37215788;NT GT ./. 2 37216003 . C . . NT END=37217790;NT GT ./. 2 37217943 . C . . NT END=37227728;NT GT ./. 2 37227637 rs537047556 T C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=5;Gene=HEATR5B/NM_019024.2/1;CC=c.5545+92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:13,11:413,358:40.28,0.00:38.55,0.00:1.74,0.00:1.00,0.00:1.00,0.00:0.82,0.00:60,60:32.5,4.0:0,0:0,0:62,49:89,99:49,37:NM_019024.1(HEATR5B) c.5545+92A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 37227957 . C . . NT END=37229448;NT GT ./. 2 37229716 . C . . NT END=37230684;NT GT ./. 2 37230516 rs72873849 C A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8702,A/0.1298;PC=0.002;Gene=HEATR5B/NM_019024.2/1;CC=c.5050+169G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,C:8:8:0:0:5,3:131,53:13.20,0.00:13.20,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:36.8,15.7:0,0:0,0:73,117:77,33:18,26:NM_019024.1(HEATR5B) c.5050+169G>T,-:0.14,-:NOT_FOUND,- 2 37230734 rs17497654 C T 56 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8698,A/.,T/0.1302;PC=1.000;Gene=HEATR5B/NM_019024.2/1;CC=c.5001G>A;ProtCh=p.Q1667=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:33:0:0:21,18:716,592:0.00,56.10:0.00,32.62:0.00,23.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,37.8:0,0:0,0:66,81:79,57:39,28:-,NM_019024.1(HEATR5B) c.5001G>A (p.(=)):-,0.14:-,0.178533 2 37230830 . C . . NT END=37232774;NT GT ./. 2 37232903 . C . . NT END=37234192;NT GT ./. 2 37234448 . C . . NT END=37235753;NT GT ./. 2 37234480 rs5830448 C CT 17 sb;idl,rn VT=INS;SST=Single;DP=91;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=HEATR5B/NM_019024.2/1;CC=c.4523-34_4523-33insA;VC=Intron;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,T,CT,D:78:32:19:12:58,5,10,5:1804,126,488,277:0.00,7.47,16.99,9.78:0.00,-0.53,-1.09,-0.53:0.00,8.00,18.08,10.31:0.00,0.00,0.98,0.00:0.00,0.00,0.93,0.00:0.00,0.00,1.00,0.00:60,60,60,60:26.1,101.6,166.0,20.2:0,2,9,4:0,0,0,0:118,33,96,95:24,116,55,56:22,16,15,25:-,NM_019024.1(HEATR5B) c.4523-34_4523-33insA:-,NOT_FOUND:-,NOT_FOUND 2 37234519 rs2013223 T C 80 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.3311,C/0.6689;PC=0.001;Gene=HEATR5B/NM_019024.2/1;CC=c.4523-72A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:9:0:0:25,43:872,1309:79.72,0.00:0.73,0.00:78.99,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:84.4,39.6:0,0:0,0:98,98:53,48:31,32:NM_019024.1(HEATR5B) c.4523-72A>G,-:0.65,-:NOT_FOUND,- 2 37235992 . C . . NT END=37240983;NT GT ./. 2 37241164 . C . . NT END=37246951;NT GT ./. 2 37247021 . C . . NT END=37247797;NT GT ./. 2 37247980 . C . . NT END=37255065;NT GT ./. 2 37255015 rs2540998 G A 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.3307,A/0.6693;PC=0.002;Gene=HEATR5B/NM_019024.2/1;CC=c.3853+51C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:45:43:0:0:22,1,22:722,10,768:69.44,-0.02,0.00:58.05,-0.19,0.00:11.40,0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:33.6,188.0,1.6:0,0,0:0,0,0:57,57,62:92,63,86:24,0,32:NM_019024.1(HEATR5B) c.3853+51C>T,-:0.65,-:0.633113,- 2 37255318 . C . . NT END=37255823;NT GT ./. 2 37256064 . C . . NT END=37259771;NT GT ./. 2 37259917 . C . . NT END=37264997;NT GT ./. 2 37260027 rs5830450 G GT 10 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;Gene=HEATR5B/NM_019024.2/1;CC=c.3217-112_3217-111insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:G,T,GT,D:26:4:4:3:19,1,4,2:587,26,132,101:0.00,1.34,10.47,4.86:0.00,1.63,2.85,-0.05:0.00,-0.29,7.63,4.91:0.00,0.00,0.66,0.00:0.00,0.00,0.48,0.00:0.00,0.00,0.94,0.00:60,60,70,60:19.7,47.0,0.0,36.5:0,0,0,1:0,0,0,0:102,126,75,65:48,15,76,77:39,0,55,6:-,NM_019024.1(HEATR5B) c.3217-112_3217-111insA:-,NOT_FOUND:-,NOT_FOUND 2 37264935 rs4670650 A T 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.3894,T/0.6106;Gene=HEATR5B/NM_019024.2/1;CC=c.3216+63T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:27:0:0:15,12:446,388:0.00,36.48:0.00,33.21:0.00,3.27:0.00,1.00:0.00,1.00:0.00,0.91:60,60:20.1,40.9:0,0:0,0:80,31:70,116:51,12:-,NM_019024.1(HEATR5B) c.3216+63T>A:-,0.59:-,NOT_FOUND 2 37265168 . C . . NT END=37267471;NT GT ./. 2 37267662 . C . . NT END=37268275;NT GT ./. 2 37267901 rs2287108 A T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4097,T/0.5903;Gene=HEATR5B/NM_019024.2/1;CC=c.2857-240T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,T:6:1:0:0:3,3:102,81:0.00,7.71:0.00,1.46:0.00,6.25:0.00,0.73:0.00,0.67:0.00,0.96:60,60:0.0,62.3:0,0:0,0:126,121:24,30:9,13:-,NM_019024.1(HEATR5B) c.2857-240T>A:-,0.58:-,NOT_FOUND 2 37268436 . C . . NT END=37276795;NT GT ./. 2 37276651 rs10495870 A C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.6891,C/0.3109;PC=0.001;Gene=HEATR5B/NM_019024.2/1;CC=c.2696+145T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:20:20:0:0:11,9:360,293:0.00,27.61:0.00,27.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.2,39.9:0,0:0,0:28,52:123,96:16,26:-,NM_019024.1(HEATR5B) c.2696+145T>G:-,0.31:-,NOT_FOUND 2 37276987 . C . . NT END=37280644;NT GT ./. 2 37276993 . TA T 25 idl,rn VT=DEL;SST=Single;DP=52;Gene=HEATR5B/NM_019024.2/1;CC=c.2506-8delT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:TA,I,T:45:19:6:19:27,6,12:746,172,510:0.00,13.02,25.05:0.00,4.93,2.87:0.00,8.09,22.18:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:24.5,42.0,44.2:0,0,7:0,0,0:122,86,87:28,64,48:24,24,25:-,NM_019024.1(HEATR5B) c.2506-8delT:-,NOT_FOUND:-,NOT_FOUND 2 37280571 rs75117295 T A 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.8732,A/0.1268;Gene=HEATR5B/NM_019024.2/1;CC=c.2505+74A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:19:18:0:0:9,10:298,307:28.39,0.00:21.82,0.00:6.57,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:33.1,5.7:0,0:0,0:44,57:107,93:23,27:NM_019024.1(HEATR5B) c.2505+74A>T,-:0.14,-:NOT_FOUND,- 2 37280751 . C . . NT END=37283582;NT GT ./. 2 37283759 . C . . NT END=37284459;NT GT ./. 2 37284624 . C . . NT END=37285593;NT GT ./. 2 37285704 . C . . NT END=37286030;NT GT ./. 2 37286131 . C . . NT END=37287723;NT GT ./. 2 37287877 . C . . NT END=37289081;NT GT ./. 2 37289194 . C . . NT END=37291882;NT GT ./. 2 37292134 . C . . NT END=37292897;NT GT ./. 2 37293054 . C . . NT END=37295823;NT GT ./. 2 37296074 . C . . NT END=37297372;NT GT ./. 2 37297531 . C . . NT END=37299252;NT GT ./. 2 37299425 . C . . NT END=37302627;NT GT ./. 2 37302556 rs397813708 GA G 76 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=GA/0.07208,G/0.9279;DB;DBA=NA;PAF=GA/0.07208,G/0.9279;NP=3366;PC=0.618;Gene=HEATR5B/NM_019024.2/1;CC=c.597+71delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:GA,G:22:21:0:21:1,21:36,674:0.00,75.65:0.00,68.18:0.00,7.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,1.4:0,0:0,0:48,52:103,99:0,45:NM_019024.1(HEATR5B) c.597+71delT,NM_019024.1(HEATR5B) c.597+71delT:0.94,0.94:NOT_FOUND,NOT_FOUND 2 37302778 . C . . NT END=37304053;NT GT ./. 2 37304163 . C . . NT END=37306262;NT GT ./. 2 37304369 rs17445820 T C 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8013,C/0.1987;Gene=HEATR5B/NM_019024.2/1;CC=c.339-207A>G;VC=Intron;DM=HEATR5B/Methyltransf_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:275:31.32:0.00:31.32:1.00:0.00:1.00:60:39.0:0:0:73:77:24:NM_019024.1(HEATR5B) c.339-207A>G,NM_019024.1(HEATR5B) c.339-207A>G:0.23,0.23:NOT_FOUND,NOT_FOUND 2 37306343 rs6743906 G A 146 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.07069,A/0.9293;PC=0.730;Gene=HEATR5B/NM_019024.2/1;CC=c.258C>T;ProtCh=p.F86=;VC=Silent;DM=HEATR5B/Methyltransf_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A:40:32:0:0:40:1273:146.36:90.11:56.25:1.00:1.00:1.00:60:38.6:0:0:86:64:38:NM_019024.1(HEATR5B) c.=,NM_019024.1(HEATR5B) c.=:0.94,0.94:0.923592,0.923592 2 37306475 . C . . NT END=37310431;NT GT ./. 2 37310558 . T . . NT END=37311660;NT GT ./. 2 37311714 . G . . NT END=37315511;NT GT ./. 2 37315479 rs578050653 TA T 7 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=TA/0.9852,T/0.01478;NP=23;Gene=GPATCH11/NM_001278505.1/0;CC=c.-65-23delA;VC=Intron;Gene=GPATCH11/NM_174931.3/1;CC=c.54-23delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:TA,I,T:28:27:1:3:24,1,3:814,33,100:0.00,1.95,7.34:0.00,2.00,7.49:0.00,-0.05,-0.15:0.00,0.00,0.44:0.00,0.00,0.88:0.00,0.00,0.42:60,60,60:6.1,11.0,0.0:0,0,0:0,0,0:44,91,45:94,59,106:29,0,20:-,NM_174931.2(CCDC75) c.-25-32delA:-,NOT_FOUND:-,NOT_FOUND 2 37315584 . G . . NT END=37316782;NT GT ./. 2 37316717 rs371385606 TA T 16 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=7;PC=0.012;Gene=GPATCH11/NM_001278505.1/0;CC=c.7+1149delA;VC=Intron;Gene=GPATCH11/NM_174931.3/1;CC=c.126-51delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,TA,I,T:34:33:6:7:1,22,5,6:10,678,190,221:-0.03,0.00,12.58,15.76:-0.23,0.00,12.80,16.03:0.20,0.00,-0.22,-0.27:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.64:60,60,60,60:150.0,19.7,22.6,13.2:0,0,1,1:0,0,0,0:32,34,23,48:92,117,125,102:0,18,11,24:-,NM_174931.2(CCDC75) c.48-65delA:-,NOT_FOUND:-,NOT_FOUND 2 37317010 . G . . NT END=37317823;NT GT ./. 2 37317866 . G . . NT END=37319058;NT GT ./. 2 37317869 rs4670654 C T 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.07149,T/0.9285;PC=0.969;Gene=GPATCH11/NM_001278505.1/0;CC=c.8-1190C>T;VC=Intron;Gene=GPATCH11/NM_174931.3/1;CC=c.394+4C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:10:0:0:20:654:74.86:25.85:49.01:1.00:1.00:1.00:60:44.3:0:0:109:41:20:NM_174931.2(CCDC75) c.316+4C>T,NM_174931.2(CCDC75) c.316+4C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 2 37318041 rs4670655 A G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3778,G/0.6222;PC=0.694;Gene=GPATCH11/NM_001278505.1/0;CC=c.8-1018A>G;VC=Intron;Gene=GPATCH11/NM_174931.3/1;CC=c.394+176A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:146:16.96:0.00:16.96:1.00:0.00:1.00:60:41.0:0:0:41:107:3:NM_174931.2(CCDC75) c.316+176A>G,NM_174931.2(CCDC75) c.316+176A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 2 37319180 . G . . NT END=37319307;NT GT ./. 2 37319399 . G . . NT END=37321224;NT GT ./. 2 37321339 . G . . NT END=37322579;NT GT ./. 2 37322662 . G . . NT END=37323350;NT GT ./. 2 37323407 . G . . NT END=37334415;NT GT ./. 2 37334185 rs397718360 T TA 28 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2825,TA/0.7175;DB;DBA=NA;PAF=T/0.2825,TA/0.7175;NP=203;Gene=EIF2AK2/NM_001135652.2/0;CC=c.*230_*231insT;VC=3UTR;Gene=EIF2AK2/NM_001135651.2/0;CC=c.*230_*231insT;VC=3UTR;Gene=EIF2AK2/NM_002759.3/1;CC=c.*230_*231insT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:T,TA:13:13:9:0:4,9:126,274:0.00,28.20:0.00,28.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:2.8,9.6:0,0:0,0:72,21:78,129:59,15:-,NM_002759.3(EIF2AK2) c.*230dupT:-,NOT_FOUND:-,NOT_FOUND 2 37334539 . C . . NT END=37334616;NT GT ./. 2 37334671 . C . . NT END=37336336;NT GT ./. 2 37336439 . C . . NT END=37341873;NT GT ./. 2 37336720 rs4233920 A G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.09285,C/.,G/0.9071;PC=0.002;Gene=EIF2AK2/NM_001135652.2/0;CC=c.1255-282T>C;VC=Intron;Gene=EIF2AK2/NM_001135651.2/0;CC=c.1378-282T>C;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.1378-282T>C;VC=Intron;DM=EIF2AK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:109:12.77:0.00:12.77:1.00:0.00:1.00:60:48.5:0:0:104:46:25:NM_002759.3(EIF2AK2) c.1378-282T>C,NM_002759.3(EIF2AK2) c.1378-282T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 2 37342003 . C . . NT END=37347101;NT GT ./. 2 37342007 . G GA 15 rn VT=INS;SST=Single;DP=81;NP=2;PC=0.020;Gene=EIF2AK2/NM_001135652.2/0;CC=c.1126-6dupT;VC=Intron;Gene=EIF2AK2/NM_001135651.2/0;CC=c.1249-6dupT;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.1249-6dupT;VC=Intron;DM=EIF2AK2/Pkinase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,G,T,GA,D:81:42:7:2:1,70,1,7,2:8,2233,12,216,64:-0.29,0.00,-0.18,14.76,3.39:-0.13,0.00,0.05,6.54,-0.28:-0.16,0.00,-0.23,8.22,3.67:0.00,0.00,0.00,0.87,0.00:0.00,0.00,0.00,0.92,0.00:0.00,0.00,0.00,0.98,0.00:60,60,60,60,60:30.0,8.7,12.0,11.1,10.0:0,0,0,0,0:0,0,0,0,0:126,73,150,35,69:24,66,1,116,81:0,41,0,20,7:-,NM_002759.3(EIF2AK2) c.1249-6_1249-5insT:-,NOT_FOUND:-,NOT_FOUND 2 37347283 . C . . NT END=37349648;NT GT ./. 2 37347529 rs150657320 T C 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7798,C/0.2202;PC=0.001;Gene=EIF2AK2/NM_001135652.2/0;CC=c.945-247A>G;VC=Intron;Gene=EIF2AK2/NM_001135651.2/0;CC=c.1068-247A>G;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.1068-247A>G;VC=Intron;DM=EIF2AK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:34.2:0:0:106:45:39:NM_002759.3(EIF2AK2) c.1068-247A>G,NM_002759.3(EIF2AK2) c.1068-247A>G:0.25,0.25:NOT_FOUND,NOT_FOUND 2 37349808 . C . . NT END=37353431;NT GT ./. 2 37353555 . C . . NT END=37362626;NT GT ./. 2 37362690 . C . . NT END=37364125;NT GT ./. 2 37364161 . C . . NT END=37365412;NT GT ./. 2 37365507 . C . . NT END=37365651;NT GT ./. 2 37365729 . C . . NT END=37366773;NT GT ./. 2 37366901 . C . . NT END=37368695;NT GT ./. 2 37367181 rs5830457 AT A 8 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AT/0.09085,A/0.9091;DB;DBA=NA;PAF=AT/0.09085,A/0.9091;DB;DBA=NA;PAF=AT/0.09085,A/0.9091;NP=71;PC=0.288;Gene=EIF2AK2/NM_001135652.2/0;CC=c.390-282delA;VC=Intron;Gene=EIF2AK2/NM_001135651.2/0;CC=c.390-282delA;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.390-282delA;VC=Intron;DM=EIF2AK2/dsrm;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:AT,A:5:0:0:3:2,3:62,81:0.00,8.07:0.00,0.00:0.00,8.07:0.00,0.78:0.00,0.00:0.00,0.78:60,60:44.5,40.0:0,0:0,0:144,83:6,64:3,1:-,NM_002759.3(EIF2AK2) c.390-282delA:-,NOT_FOUND:-,NOT_FOUND 2 37368452 rs2287350 T C 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7672,C/0.2328;Gene=EIF2AK2/NM_001135652.2/0;CC=c.389+244A>G;VC=Intron;Gene=EIF2AK2/NM_001135651.2/0;CC=c.389+244A>G;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.389+244A>G;VC=Intron;DM=EIF2AK2/dsrm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:182:21.02:21.02:0.00:1.00:1.00:0.00:60:71.5:0:0:45:105:17:NM_002759.3(EIF2AK2) c.389+244A>G,NM_002759.3(EIF2AK2) c.389+244A>G:0.26,0.26:NOT_FOUND,NOT_FOUND 2 37368845 . C . . NT END=37373995;NT GT ./. 2 37369050 rs4648174 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7664,C/0.2336;Gene=EIF2AK2/NM_001135652.2/0;CC=c.241-206A>G;VC=Intron;Gene=EIF2AK2/NM_001135651.2/0;CC=c.241-206A>G;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.241-206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:233:26.64:0.00:26.64:1.00:0.00:1.00:60:37.7:0:0:118:33:16:NM_002759.3(EIF2AK2) c.241-206A>G,NM_002759.3(EIF2AK2) c.241-206A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 2 37373982 rs76827799 A AT 219 nt VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.0651,AC/.,AT/0.9349;DB;DBA=NA;PAF=NA;NP=3384;PC=0.001;Gene=EIF2AK2/NM_001135652.2/0;CC=c.240+13_240+14insA;VC=Intron;Gene=EIF2AK2/NM_001135651.2/0;CC=c.240+13_240+14insA;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.240+13_240+14insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:T,AT:61:48:59:0:2,59:54,1916:3.41,218.87:0.00,142.90:3.41,75.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.5,6.2:0,0:0,0:1,67:149,80:0,21:NM_002759.3(EIF2AK2) c.240+13_240+14insA,NM_002759.3(EIF2AK2) c.240+13_240+14insA:NOT_FOUND,NOT_FOUND:0.932737,0.932737 2 37374101 rs141047420 A G 90 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=5;PC=0.870;Gene=EIF2AK2/NM_001135652.2/0;CC=c.135T>C;ProtCh=p.V45=;VC=Silent;Gene=EIF2AK2/NM_001135651.2/0;CC=c.135T>C;ProtCh=p.V45=;VC=Silent;Gene=EIF2AK2/NM_002759.3/1;CC=c.135T>C;ProtCh=p.V45=;VC=Silent;DM=EIF2AK2/dsrm;DM=EIF2AK2/dsrm;DM=EIF2AK2/dsrm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:66:37:0:0:37,28,1:1132,955,11:0.00,89.58,-0.06:0.00,49.70,0.11:0.00,39.87,-0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.5,38.1,11.0:0,0,0:0,0,0:77,96,150:68,54,1:23,28,0:-,NM_002759.3(EIF2AK2) c.135T>C (p.(=)):-,NOT_FOUND:-,0.000385 2 37374117 . C . . NT END=37374830;NT GT ./. 2 37374950 . T . . NT END=37395077;NT GT ./. 2 37375932 rs2270414 G A 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5232,A/0.4768;PC=1.000;Gene=EIF2AK2/NM_001135651.2/0;CC=c.-17+68C>T;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.-17+68C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:12:0:0:16:498:57.38:35.73:21.65:1.00:1.00:1.00:60:35.6:0:0:36:111:25:NM_002759.3(EIF2AK2) c.-17+68C>T,NM_002759.3(EIF2AK2) c.-17+68C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 2 37376291 rs2254958 G A 82 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6268,A/0.3732;PC=1.000;Gene=EIF2AK2/NM_001135651.2/0;CC=c.-183-125C>T;VC=Intron;Gene=EIF2AK2/NM_002759.3/1;CC=c.-308C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:12:0:0:22:715:81.99:37.08:44.91:1.00:1.00:1.00:60:46.9:0:0:73:76:26:NM_002759.3(EIF2AK2) c.-308C>T,NM_002759.3(EIF2AK2) c.-308C>T:0.43,0.43:NOT_FOUND,NOT_FOUND 2 37395209 . C . . NT END=37398576;NT GT ./. 2 37395569 rs6748151 A G 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1835,G/0.8165;PC=0.001;Gene=SULT6B1/NM_001032377.1/1;CC=c.668-361T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:91:10.95:0.00:10.95:1.00:0.00:1.00:60:59.5:0:0:124:22:12:NM_001032377.1(SULT6B1) c.668-361T>C,NM_001032377.1(SULT6B1) c.668-361T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 37398734 . C . . NT END=37402274;NT GT ./. 2 37402270 rs11569755 C G 123 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.7843,G/0.2157;PC=0.957;Gene=SULT6B1/NM_001032377.1/1;CC=c.510+5G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:27:0:0:32:1079:123.16:83.50:39.66:1.00:1.00:1.00:60:51.5:0:0:42:98:27:NM_001032377.1(SULT6B1) c.510+5G>C,NM_001032377.1(SULT6B1) c.510+5G>C:0.25,0.25:0.292026,0.292026 2 37402370 . C . . NT END=37406600;NT GT ./. 2 37402373 rs11569758 A G 136 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.7843,C/.,G/0.2157;PC=1.000;Gene=SULT6B1/NM_001032377.1/1;CC=c.416-4T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:G:36:22:0:0:36:1192:136.32:56.53:79.79:1.00:1.00:1.00:60:51.4:0:0:85:63:23:NM_001032377.1(SULT6B1) c.416-4T>C,NM_001032377.1(SULT6B1) c.416-4T>C:0.25,0.25:0.29114,0.29114 2 37406728 . C . . NT END=37410567;NT GT ./. 2 37410357 rs6544060 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6538,C/0.3462;Gene=SULT6B1/NM_001032377.1/1;CC=c.288+211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:187:21.56:21.56:0.00:1.00:1.00:0.00:60:32.7:0:0:29:121:13:NM_001032377.1(SULT6B1) c.288+211A>G,NM_001032377.1(SULT6B1) c.288+211A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 2 37410537 rs6544061 C T 131 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.6554,T/0.3446;PC=0.003;Gene=SULT6B1/NM_001032377.1/1;CC=c.288+31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:T:35:29:0:0:35:1142:130.89:89.19:41.70:1.00:1.00:1.00:60:37.9:0:0:50:101:32:NM_001032377.1(SULT6B1) c.288+31G>A,NM_001032377.1(SULT6B1) c.288+31G>A:0.37,0.37:0.442642,0.442642 2 37410658 . C . . NT END=37414497;NT GT ./. 2 37414431 rs6724820 A C 58 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7744,C/0.2256;PC=0.002;Gene=SULT6B1/NM_001032377.1/1;CC=c.198+67T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:510:58.15:58.15:0.00:1.00:1.00:0.00:60:38.1:0:0:50:88:22:NM_001032377.1(SULT6B1) c.198+67T>G,NM_001032377.1(SULT6B1) c.198+67T>G:0.26,0.26:NOT_FOUND,NOT_FOUND 2 37414611 . C . . NT END=37415584;NT GT ./. 2 37415496 rs11124566 G C 85 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3289,C/0.6711;Gene=SULT6B1/NM_001032377.1/1;CC=c.85+89C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:22:0:0:23:739:84.86:78.76:6.10:1.00:1.00:1.00:60:39.2:0:0:36:115:27:NM_001032377.1(SULT6B1) c.85+89C>G,NM_001032377.1(SULT6B1) c.85+89C>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 37415691 . C . . NT END=37428906;NT GT ./. 2 37428743 rs2540973 C T 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.1797,T/0.8203;PC=0.002;Gene=CEBPZOS/NR_037879.1/0;VC=NonCoding;Gene=CEBPZOS/NR_037880.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:369:42.62:42.62:0.00:1.00:1.00:0.00:60:41.1:0:0:44:106:31:NR_037879.1(LOC100505876) n.370-42C>T,NR_037879.1(LOC100505876) n.370-42C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 37429047 . C . . NT END=37429926;NT GT ./. 2 37430009 . C . . NT END=37430092;NT GT ./. 2 37430152 . C . . NT END=37438141;NT GT ./. 2 37438226 . C . . NT END=37438985;NT GT ./. 2 37438993 rs1137437 G A 188 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.6805,A/0.3195;PC=0.002;Gene=CEBPZ/NM_005760.2/1;CC=c.2793C>T;ProtCh=p.S931=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:45:0:0:50:1638:187.56:135.88:51.68:1.00:1.00:1.00:60:37.3:0:0:43:93:24:NM_005760.2(CEBPZ) c.2793C>T (p.(=)),NM_005760.2(CEBPZ) c.2793C>T (p.(=)):0.38,0.38:0.361175,0.361175 2 37439183 . C . . NT END=37439477;NT GT ./. 2 37439536 . C . . NT END=37441006;NT GT ./. 2 37441105 . C . . NT END=37442028;NT GT ./. 2 37442096 . C . . NT END=37443282;NT GT ./. 2 37443352 . C . . NT END=37443458;NT GT ./. 2 37443562 . C . . NT END=37444126;NT GT ./. 2 37444181 . C . . NT END=37447527;NT GT ./. 2 37447461 rs200116467 A ACAAG 7 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=29;Gene=CEBPZ/NM_005760.2/1;CC=c.2154+66_2154+67insCTTG;VC=Intron;DM=CEBPZ/CBF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,ACAAG:23:23:3:0:20,3:653,90:0.00,6.57:0.00,5.20:0.00,1.37:0.00,0.47:0.00,0.47:0.00,0.37:60,60:91.5,16.3:2,0:0,0:38,117:110,30:29,6:-,NM_005760.2(CEBPZ) c.2154+66_2154+67insCTTG:-,NOT_FOUND:-,NOT_FOUND 2 37447465 rs367780066 A G 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.1607,G/0.8393;DB;DBA=NA;PAF=NA;NP=16;PC=0.394;Gene=CEBPZ/NM_005760.2/1;CC=c.2154+63T>C;VC=Intron;DM=CEBPZ/CBF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:22:22:0:0:5,17:126,573:0.00,60.35:0.00,58.57:0.00,1.78:0.00,1.00:0.00,1.00:0.00,0.85:60,60:46.8,95.8:2,0:0,0:47,32:101,113:38,24:-,NM_005760.2(CEBPZ) c.2154+63T>C:-,NOT_FOUND:-,NOT_FOUND 2 37447473 rs57004489 T A 55 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.1607,A/0.8393;NP=32;Gene=CEBPZ/NM_005760.2/1;CC=c.2154+55A>T;VC=Intron;DM=CEBPZ/CBF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A,T:16:15:0:6:15,1:490,27:54.53,0.00:47.33,0.00:7.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:101.7,12.0:0,0:0,0:40,133:105,14:24,0:NM_005760.2(CEBPZ) c.2154+55A>T,NM_005760.2(CEBPZ) c.2154+55A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 37447475 rs74177066 T A 64 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.1607,A/0.8393;NP=20;Gene=CEBPZ/NM_005760.2/1;CC=c.2154+53A>T;VC=Intron;DM=CEBPZ/CBF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A,C:18:17:0:4:17,1:563,12:63.99,0.54:56.63,0.54:7.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:97.8,12.0:2,0:0,0:40,135:111,12:23,0:NM_005760.2(CEBPZ) c.2154+53A>T,NM_005760.2(CEBPZ) c.2154+53A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 37447617 . C . . NT END=37449522;NT GT ./. 2 37449707 . C . . NT END=37450312;NT GT ./. 2 37450545 . C . . NT END=37454686;NT GT ./. 2 37456032 rs2098386 C T 340 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.0601,T/0.9399;Gene=CEBPZ/NM_005760.2/1;CC=c.304G>A;ProtCh=p.V102I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:94:63:0:0:94:2949:339.55:192.10:147.45:1.00:1.00:1.00:60:39.1:0:0:81:64:38:NM_005760.2(CEBPZ) c.304G>A (p.Val102Ile),NM_005760.2(CEBPZ) c.304G>A (p.Val102Ile):0.93,0.93:0.879499,0.879499 2 37456180 . C . . NT END=37458554;NT GT ./. 2 37458711 . G . . NT END=37458848;NT GT ./. 2 37458711 rs3213745 G A 515 nt VT=SNV;PN=T;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.7069,A/0.2931;Gene=CEBPZ/NM_005760.2/1;CC=c.-1C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:139:91:0:0:139:4486:514.59:260.40:254.19:1.00:1.00:1.00:60:40.5:0:0:62:84:36:NM_005760.2(CEBPZ) c.-1C>T,NM_005760.2(CEBPZ) c.-1C>T:0.36,0.36:0.326157,0.326157 2 37458904 . G . . NT END=37458912;NT GT ./. 2 37459023 . G . . NT END=37459248;NT GT ./. 2 37459410 . G . . NT END=37463238;NT GT ./. 2 37463320 . G . . NT END=37464899;NT GT ./. 2 37464877 rs368987177 G GT 7 rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=NDUFAF7/NM_001083946.1/0;CC=c.217-13dupT;VC=Intron;Gene=NDUFAF7/NM_144736.4/1;CC=c.298-13dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:G,GT:23:22:3:0:20,3:648,95:0.00,7.07:0.00,7.28:0.00,-0.21:0.00,0.47:0.00,0.89:0.00,0.54:60,60:35.5,50.3:0,0:0,0:25,66:122,85:16,11:-,NM_144736.4(NDUFAF7) c.298-23_298-22insT:-,NOT_FOUND:-,NOT_FOUND 2 37465011 . G . . NT END=37468720;NT GT ./. 2 37468564 rs2041837 G T 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.277,T/0.723;Gene=NDUFAF7/NM_001083946.1/0;CC=c.328-157G>T;VC=Intron;Gene=NDUFAF7/NM_144736.4/1;CC=c.409-157G>T;VC=Intron;DM=NDUFAF7/Methyltransf_28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:200:23.73:23.73:0.00:1.00:1.00:0.00:60:42.0:0:0:51:99:28:NM_144736.4(NDUFAF7) c.409-157G>T,NM_144736.4(NDUFAF7) c.409-157G>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 37468935 . G . . NT END=37469777;NT GT ./. 2 37469837 . G . . NT END=37471005;NT GT ./. 2 37471117 . G . . NT END=37473194;NT GT ./. 2 37473339 . G . . NT END=37474598;NT GT ./. 2 37473655 rs759461 A C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1863,C/0.8137;Gene=NDUFAF7/NM_001083946.1/0;CC=c.642+317A>C;VC=Intron;Gene=NDUFAF7/NM_144736.4/1;CC=c.936+317A>C;VC=Intron;DM=NDUFAF7/Methyltransf_28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:33.2:0:0:110:39:16:NM_144736.4(NDUFAF7) c.936+317A>C,NM_144736.4(NDUFAF7) c.936+317A>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 37474773 . G . . NT END=37475277;NT GT ./. 2 37475114 rs12712529 C G 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6168,G/0.3832;Gene=NDUFAF7/NM_001083946.1/0;CC=c.817-164C>G;VC=Intron;Gene=NDUFAF7/NM_144736.4/1;CC=c.1111-164C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:8:0:0:8:253:29.07:29.07:0.00:1.00:1.00:0.00:60:35.4:0:0:41:110:7:NM_144736.4(NDUFAF7) c.1111-164C>G,NM_144736.4(NDUFAF7) c.1111-164C>G:0.4,0.4:NOT_FOUND,NOT_FOUND 2 37475494 . T . . NT END=37480319;NT GT ./. 2 37480249 rs1056021 A G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7218,G/0.2782;PC=0.001;Gene=PRKD3/NM_005813.4/1;CC=c.*71T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,T:10:10:0:0:9,1:277,15:31.58,1.00:25.78,1.00:5.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,37.0:0,0:0,0:24,150:127,1:9,0:NM_005813.3(PRKD3) c.*71T>C,NM_005813.3(PRKD3) c.*71T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 2 37480494 . C . . NT END=37481346;NT GT ./. 2 37481433 . C . . NT END=37483804;NT GT ./. 2 37483771 . ATTTTT A 12 idl,rn VT=DEL;SST=Single;DP=38;PC=0.004;Gene=PRKD3/NM_005813.4/1;CC=c.2413+29_2413+33delAAAAA;VC=Intron;DM=PRKD3/Pkinase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:ATTTTT,A:27:35:0:20:22,5:680,491:0.00,12.14:0.00,11.63:0.00,0.50:0.00,0.77:0.00,0.97:0.00,0.82:60,60:14.5,139.8:0,11:0,0:110,47:27,87:17,13:-,NM_005813.3(PRKD3) c.2413+29_2413+33delAAAAA:-,NOT_FOUND:-,NOT_FOUND 2 37484073 . C . . NT END=37486725;NT GT ./. 2 37486527 rs2714470 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1849,G/0.8151;Gene=PRKD3/NM_005813.4/1;CC=c.2145+199T>C;VC=Intron;DM=PRKD3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:217:25.00:25.00:0.00:1.00:1.00:0.00:60:51.6:0:0:75:75:47:NM_005813.3(PRKD3) c.2145+199T>C,NM_005813.3(PRKD3) c.2145+199T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 37486825 . C . . NT END=37487365;NT GT ./. 2 37487528 . C . . NT END=37494572;NT GT ./. 2 37487723 rs10176949 G A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6999,A/0.3001;Gene=PRKD3/NM_005813.4/1;CC=c.1885-196C>T;VC=Intron;DM=PRKD3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:157:18.08:0.00:18.08:1.00:0.00:1.00:60:40.8:0:0:125:24:8:NM_005813.3(PRKD3) c.1885-196C>T,NM_005813.3(PRKD3) c.1885-196C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 2 37494680 . C . . NT END=37496757;NT GT ./. 2 37496831 . C . . NT END=37499522;NT GT ./. 2 37499576 . C . . NT END=37501563;NT GT ./. 2 37501841 . C . . NT END=37502909;NT GT ./. 2 37502988 . C . . NT END=37505008;NT GT ./. 2 37505133 . C . . NT END=37506888;NT GT ./. 2 37506664 rs367996520 G GA 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;Gene=PRKD3/NM_005813.4/1;CC=c.1172+224_1172+225insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:G,GA:6:6:3:0:3,3:86,96:0.00,9.23:0.00,9.23:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:9.7,0.0:0,0:0,0:4,35:146,116:3,26:-,NM_005813.3(PRKD3) c.1172+224_1172+225insT:-,NOT_FOUND:-,NOT_FOUND 2 37507073 . C . . NT END=37509684;NT GT ./. 2 37509763 . C . . NT END=37513319;NT GT ./. 2 37513513 . C . . NT END=37516498;NT GT ./. 2 37516657 . C . . NT END=37518010;NT GT ./. 2 37518045 rs10177176 G C 99 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6935,A/.,C/0.3065;PC=0.998;Gene=PRKD3/NM_005813.4/1;CC=c.525C>G;ProtCh=p.L175=;VC=Silent;DM=PRKD3/C1_1;DM=PRKD3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:16:0:0:26:869:99.30:46.51:52.79:1.00:1.00:1.00:60:44.2:0:0:62:88:30:NM_005813.3(PRKD3) c.525C>G (p.(=)),NM_005813.3(PRKD3) c.525C>G (p.(=)):0.37,0.37:0.331078,0.331078 2 37518143 . C . . NT END=37520275;NT GT ./. 2 37520079 rs11683872 G T 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.728,T/0.272;Gene=PRKD3/NM_005813.4/1;CC=c.427+197C>A;VC=Intron;DM=PRKD3/Pkinase;DM=PRKD3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:158:18.60:18.60:0.00:1.00:1.00:0.00:60:51.8:0:0:76:74:38:NM_005813.3(PRKD3) c.427+197C>A,NM_005813.3(PRKD3) c.427+197C>A:0.34,0.34:NOT_FOUND,NOT_FOUND 2 37520415 . C . . NT END=37543379;NT GT ./. 2 37543371 rs6544066 A G 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.5585,G/0.4415;PC=0.391;Gene=PRKD3/NM_005813.4/1;CC=c.288+9T>C;VC=Intron;DM=PRKD3/Pkinase;DM=PRKD3/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:35:0:0:17,19:544,533:0.00,51.45:0.00,44.70:0.00,6.75:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.6,37.7:0,0:0,0:53,14:89,137:16,10:-,NM_005813.3(PRKD3) c.288+9T>C:-,0.41:-,0.302399 2 37544323 . C . . NT END=37551340;NT GT ./. 2 37551085 rs13015451 T C 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7059,C/0.2941 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:280:32.27:32.27:0.00:1.00:1.00:0.00:60:41.2:0:0:101:50:40:NM_005813.3(PRKD3) c.-555-u6863A>G,NM_005813.3(PRKD3) c.-555-u6863A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 2 37551361 . G . . NT END=37571874;NT GT ./. 2 37571752 rs6761908 G A 133 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.035;Gene=QPCT/NM_012413.3/1;CC=c.-122-1G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:34:0:0:38:1151:133.15:112.31:20.84:1.00:1.00:1.00:60:37.9:0:0:34:116:28:NM_012413.3(QPCT) c.-122-u1G>A,NM_012413.3(QPCT) c.-122-u1G>A:1,1:NOT_FOUND,NOT_FOUND 2 37571995 . G . . NT END=37579931;NT GT ./. 2 37580079 . G . . NT END=37586722;NT GT ./. 2 37587002 . G . . NT END=37594374;NT GT ./. 2 37594552 . G . . NT END=37596827;NT GT ./. 2 37596928 . G . . NT END=37599498;NT GT ./. 2 37599616 . G . . NT END=37599824;NT GT ./. 2 37599971 . T . . NT END=37872965;NT GT ./. 2 37623512 rs577753302 AACAC A 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.002;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AACAC,A:4:4:0:3:1,3:34,101:0.00,10.55:0.00,8.68:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,0.0:0,0:0,0:78,67:73,83:0,6:-,chr2 g.37623513_37623516delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 37872871 rs15628 C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.9195,T/0.08047;Gene=CDC42EP3/NM_001270437.1/0;CC=c.*95G>A;VC=3UTR;Gene=CDC42EP3/NM_001270438.1/0;CC=c.*95G>A;VC=3UTR;Gene=CDC42EP3/NM_006449.4/1;CC=c.*95G>A;VC=3UTR;Gene=CDC42EP3/NM_001270436.1/0;CC=c.*95G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:28:0:0:20,9:633,262:0.00,22.68:0.00,21.16:0.00,1.52:0.00,0.99:0.00,1.00:0.00,0.60:60,60:16.9,35.6:0,0:0,0:34,66:116,85:24,32:-,NM_006449.4(CDC42EP3) c.*95G>A:-,0.07:-,NOT_FOUND 2 37873731 . T . . NT END=38156420;NT GT ./. 2 37957015 rs141520065 A ACAC 18 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8718,ACAC/0.1282;NP=4;PC=0.117;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,ACAC:6:6:5:0:1,5:34,167:0.00,17.91:0.00,12.36:0.00,5.55:0.00,0.99:0.00,0.99:0.00,1.00:60,60:12.0,4.8:0,0:0,0:14,66:137,83:0,11:-,chr2 g.37957015_37957016insCAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38044488 rs55818118 TA T 61 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3105;PC=0.963;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:11:0:18:17:564:60.78:27.99:32.79:1.00:1.00:1.00:60:16.0:1:0:78:72:40:chr2 g.38044489delA (intergenic),chr2 g.38044489delA (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 38100089 . GACAC G 8 sb;idl,rn VT=DEL;SST=Single;DP=7;NP=3;PC=0.001;Gene=LINC00211/NR_110012.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:GACAC,G:5:5:0:5:2,3:70,145:0.00,7.84:0.00,1.49:0.00,6.35:0.00,0.69:0.00,0.93:0.00,0.89:60,60:42.0,88.7:0,2:0,0:26,45:95,105:22,7:-,chr2 g.38100090_38100093delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38100155 rs2707234 T C 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3666,C/0.6334;Gene=LINC00211/NR_110012.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:4:0:0:7:220:25.32:7.57:17.75:1.00:1.00:1.00:60:55.1:0:0:89:61:16:chr2 g.38100154T>C (intergenic),chr2 g.38100154T>C (intergenic):0.59,0.59:NOT_FOUND,NOT_FOUND 2 38156873 . G . . NT END=38177595;NT GT ./. 2 38177739 . G . . NT END=38178375;NT GT ./. 2 38179134 rs4670800 G A 221 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=3466;Gene=RMDN2/NM_001170791.2/0;CC=c.453-22049G>A;VC=Intron;Gene=RMDN2/NM_001170792.2/1;CC=c.453-22049G>A;VC=Intron;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.17+1396G>A;VC=Intron;Gene=RMDN2/NM_144713.4/0;CC=c.776G>A;ProtCh=p.G259D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:A:62:39:0:0:62:1911:220.52:117.36:103.16:1.00:1.00:1.00:60:40.3:0:0:70:80:31:NM_144713.3(FAM82A1) c.776G>A (p.Gly259Asp),NM_144713.3(FAM82A1) c.776G>A (p.Gly259Asp):1,1:NOT_FOUND,NOT_FOUND 2 38179345 . G . . NT END=38201182;NT GT ./. 2 38201358 . G . . NT END=38202354;NT GT ./. 2 38202458 . G . . NT END=38208425;NT GT ./. 2 38208233 rs1446297 T C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4605,C/0.5395;Gene=RMDN2/NM_001170791.2/0;CC=c.731-193T>C;VC=Intron;Gene=RMDN2/NM_001170792.2/1;CC=c.731-193T>C;VC=Intron;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.296-193T>C;VC=Intron;Gene=RMDN2/NM_144713.4/0;CC=c.1265-193T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:6:6:0:0:4,2:131,66:13.35,0.00:13.35,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:32.8,0.0:0,0:0,0:20,50:129,100:8,34:NM_144713.3(FAM82A1) c.1265-193T>C,-:0.53,-:NOT_FOUND,- 2 38208487 . G . . NT END=38216683;NT GT ./. 2 38208606 rs61676428 A T 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.625,T/0.375;Gene=RMDN2/NM_001170791.2/0;CC=c.791+120A>T;VC=Intron;Gene=RMDN2/NM_001170792.2/1;CC=c.791+120A>T;VC=Intron;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.356+120A>T;VC=Intron;Gene=RMDN2/NM_144713.4/0;CC=c.1325+120A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,T:10:0:0:0:3,7:102,202:0.00,20.85:0.00,0.00:0.00,20.85:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,49.6:0,0:0,0:107,83:44,68:1,29:-,NM_144713.3(FAM82A1) c.1325+120A>T:-,0.4:-,NOT_FOUND 2 38208664 rs72899094 G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.852,A/0.148,T/.;Gene=RMDN2/NM_001170791.2/0;CC=c.791+178G>A;VC=Intron;Gene=RMDN2/NM_001170792.2/1;CC=c.791+178G>A;VC=Intron;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.356+178G>A;VC=Intron;Gene=RMDN2/NM_144713.4/0;CC=c.1325+178G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:65.0:0:0:131:18:5:NM_144713.3(FAM82A1) c.1325+178G>A,NM_144713.3(FAM82A1) c.1325+178G>A:0.15,0.15:NOT_FOUND,NOT_FOUND 2 38216416 rs1446296 T G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2879,G/0.7121;Gene=RMDN2/NM_001170791.2/0;CC=c.792-268T>G;VC=Intron;Gene=RMDN2/NM_001170792.2/1;CC=c.792-268T>G;VC=Intron;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.357-268T>G;VC=Intron;Gene=RMDN2/NM_144713.4/0;CC=c.1326-268T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:43.5:0:0:24:125:14:NM_144713.3(FAM82A1) c.1326-268T>G,NM_144713.3(FAM82A1) c.1326-268T>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 38216478 rs6736956 T C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4543,C/0.5457;Gene=RMDN2/NM_001170791.2/0;CC=c.792-206T>C;VC=Intron;Gene=RMDN2/NM_001170792.2/1;CC=c.792-206T>C;VC=Intron;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.357-206T>C;VC=Intron;Gene=RMDN2/NM_144713.4/0;CC=c.1326-206T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:7:7:0:0:4,3:115,102:11.31,0.00:11.31,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:46.5,22.0:0,0:0,0:60,69:91,82:18,10:NM_144713.3(FAM82A1) c.1326-206T>C,-:0.55,-:NOT_FOUND,- 2 38216760 . G . . NT END=38218362;NT GT ./. 2 38218441 . G . . NT END=38224558;NT GT ./. 2 38218470 rs11356296 TA T 21 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=TA/0.8512,T/0.1488;NP=495;PC=0.206;Gene=RMDN2/NM_001170791.2/0;CC=c.945+31delA;VC=Intron;Gene=RMDN2/NM_001170792.2/1;CC=c.945+31delA;VC=Intron;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.510+31delA;VC=Intron;Gene=RMDN2/NM_144713.4/0;CC=c.1479+31delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:15:4:0:7:8,7:261,225:0.00,21.34:0.00,2.99:0.00,18.35:0.00,0.99:0.00,0.92:0.00,1.00:60,70:0.0,0.0:0,0:0,0:79,78:70,72:36,29:-,NM_144713.3(FAM82A1) c.1479+31delA:-,0.15:-,0.124339 2 38224658 . G . . NT END=38231133;NT GT ./. 2 38231188 . G . . NT END=38231278;NT GT ./. 2 38231360 . G . . NT END=38244328;NT GT ./. 2 38244782 . a . . NT END=38294124;NT GT ./. 2 38244826 rs77762745 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.8864,G/0.1136;PC=0.001;Gene=RMDN2/NM_001170791.2/0;CC=c.*444A>G;VC=3UTR;Gene=RMDN2/NM_001170792.2/1;CC=c.*444A>G;VC=3UTR;Gene=RMDN2-AS1/NR_102712.1/0;VC=NonCoding;Gene=RMDN2/NM_001170793.2/0;CC=c.*444A>G;VC=3UTR;Gene=RMDN2/NM_144713.4/0;CC=c.1713+13467A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:6:0:0:16,15:505,500:0.00,47.83:0.00,8.67:0.00,39.16:0.00,1.00:0.00,0.97:0.00,1.00:60,60:1.9,44.9:0,0:0,0:116,112:34,39:18,17:-,NM_144713.3(FAM82A1) c.1713+13467A>G:-,0.12:-,NOT_FOUND 2 38266230 rs372170367 CACACACAGAG C 12 sb,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=73;Gene=RMDN2/NM_144713.4/0;CC=c.1714-27893_1714-27884delCACACAGAGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CACACACAGAG,C:6:3:0:5:2,4:70,122:0.00,12.45:0.00,0.63:0.00,11.81:0.00,0.93:0.00,0.97:0.00,0.99:60,70:35.5,6.5:0,0:0,0:84,73:29,77:10,45:-,NM_144713.3(FAM82A1) c.1714-27894_1714-27885delACACACAGAG:-,NOT_FOUND:-,NOT_FOUND 2 38294134 . T . . NT END=38297864;NT GT ./. 2 38298150 rs1056837 A G 216 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=143;DB;DBA=NA;PAF=A/0.3798,G/0.6202,T/.;Gene=CYP1B1/NM_000104.3/1;CC=c.1347T>C;ProtCh=p.D449=;VC=Silent;DM=CYP1B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:143:94:0:0:72,1,70:2325,10,2257:0.00,-0.15,216.37:0.00,-0.11,104.74:0.00,-0.03,111.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.4,118.0,60.8:0,0,0:0,0,0:80,108,54:66,43,89:35,0,37:-,NM_000104.3(CYP1B1) c.1347T>C (p.(=)):-,0.62:-,0.453714 2 38298203 rs1056836 C G 231 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=G/0.3852,C/0.6148;Gene=CYP1B1/NM_000104.3/1;CC=c.1294G>C;ProtCh=p.V432L;VC=Missense;DM=CYP1B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:142:88:0:0:71,71:2376,2396:0.00,230.74:0.00,129.77:0.00,100.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,61.4:0,0:0,0:80,74:68,71:41,32:-,NM_000104.3(CYP1B1) c.=:-,0.61:-,0.445564 2 38298454 . C . . NT END=38301488;NT GT ./. 2 38302177 rs1056827 C A 317 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=211;DB;DBA=in-clinvar;PAF=C/0.6376,A/0.3624;Gene=CYP1B1/NM_000104.3/1;CC=c.355G>T;ProtCh=p.A119S;VC=Missense;DM=CYP1B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:211:119:0:0:107,103,1:3293,3276,11:317.08,0.00,-0.16:148.92,0.00,-0.03:168.15,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.3,9.4,142.0:0,0,0:0,0,0:95,78,111:52,71,6:33,32,0:NM_000104.3(CYP1B1) c.355G>T (p.Ala119Ser),-:0.32,-:0.336529,- 2 38302390 rs10012 G C 304 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=226;DB;DBA=in-clinvar;PAF=G/0.6252,C/0.3748;Gene=CYP1B1/NM_000104.3/1;CC=c.142C>G;ProtCh=p.R48G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:226:150:0:0:103,123:3220,3743:303.61,0.00:128.26,0.00:175.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,7.7:0,0:0,0:69,64:68,76:32,33:NM_000104.3(CYP1B1) c.142C>G (p.Arg48Gly),-:0.34,-:0.349853,- 2 38302532 . G . . NT END=38523135;NT GT ./. 2 38302544 rs2617266 G A 95 nt VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.7059,A/0.2941;PC=0.002;Gene=CYP1B1/NM_000104.3/1;CC=c.-1-12C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:36:0:0:34,48:1030,1638:94.96,0.00:33.49,0.00:61.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.3,4.6:0,0:0,0:80,108:58,32:26,24:NM_000104.3(CYP1B1) c.-1-12C>T,-:0.26,-:0.267728,- 2 38500388 rs12615498 T TCTCA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5531,A/0.4469;NP=1;NP=177;NP=3;NP=4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:T,TCTCA:4:3:2:0:2,2:59,69:0.00,6.65:0.00,5.26:0.00,1.39:0.00,0.51:0.00,0.89:0.00,0.89:60,60:12.0,0.0:0,0:0,0:68,64:70,78:28,4:-,chr2 g.38500388_38500389insCTCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38523733 . C . . NT END=38525285;NT GT ./. 2 38525718 . C . . NT END=38526397;NT GT ./. 2 38526470 . C . . NT END=38527413;NT GT ./. 2 38527471 . C . . NT END=38536520;NT GT ./. 2 38536649 . C . . NT END=38537450;NT GT ./. 2 38537327 rs72803183 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9844,G/0.01558;PC=0.002;Gene=ATL2/NM_001308076.1/0;CC=c.889+124T>C;VC=Intron;Gene=ATL2/NM_001135673.2/0;CC=c.943+124T>C;VC=Intron;Gene=ATL2/NM_022374.3/1;CC=c.943+124T>C;VC=Intron;Gene=ATL2/NR_024191.1/0;VC=NonCoding;DM=ATL2/GBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,G:9:9:0:0:3,6:97,155:0.00,15.77:0.00,15.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.7,34.3:0,0:0,0:64,36:86,114:61,20:-,NM_001135673.1(ATL2) c.943+124T>C:-,0.03:-,NOT_FOUND 2 38537590 . C . . NT END=38540292;NT GT ./. 2 38540386 . C . . NT END=38541749;NT GT ./. 2 38541807 . C . . NT END=38542425;NT GT ./. 2 38542477 . C . . NT END=38545676;NT GT ./. 2 38545615 . G GA 8 rn VT=INS;SST=Single;DP=24;PC=0.224;Gene=ATL2/NM_001308076.1/0;CC=c.549+61_549+62insT;VC=Intron;Gene=ATL2/NM_001135673.2/0;CC=c.603+61_603+62insT;VC=Intron;Gene=ATL2/NM_022374.3/1;CC=c.603+61_603+62insT;VC=Intron;Gene=ATL2/NR_024191.1/0;VC=NonCoding;DM=ATL2/GBP;DM=ATL2/GBP_C;DM=ATL2/GBP;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:G,GA:24:24:3:0:21,3:672,101:0.00,7.61:0.00,7.69:0.00,-0.09:0.00,0.47:0.00,0.47:0.00,0.38:60,60:16.2,0.0:0,0:0,0:50,99:101,52:41,2:-,NM_001135673.1(ATL2) c.603+61_603+62insT:-,NOT_FOUND:-,NOT_FOUND 2 38545782 . C . . NT END=38546026;NT GT ./. 2 38546162 . C . . NT END=38570409;NT GT ./. 2 38552837 . CCAGT C 12 nt VT=DEL;SST=Single;DP=10;NP=1;PC=0.001;Gene=ATL2/NM_001308076.1/0;CC=c.310-6680_310-6677delACTG;VC=Intron;Gene=ATL2/NM_001135673.2/0;CC=c.364-6680_364-6677delACTG;VC=Intron;Gene=ATL2/NM_022374.3/1;CC=c.364-6680_364-6677delACTG;VC=Intron;Gene=ATL2/NR_024191.1/0;VC=NonCoding;DM=ATL2/GBP;DM=ATL2/GBP;DM=ATL2/GBP;DM=ATL2/GBP;DM=ATL2/GBP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:CCAGT,C:10:6:0:5:5,5:170,131:0.00,12.47:0.00,3.01:0.00,9.46:0.00,0.95:0.00,0.73:0.00,0.99:60,60:20.0,11.4:0,0:0,0:89,63:61,88:34,5:-,NM_001135673.1(ATL2) c.364-6680_364-6677delACTG:-,NOT_FOUND:-,NOT_FOUND 2 38570291 . T TA 8 end,rn VT=INS;SST=Single;DP=12;PC=0.023;Gene=ATL2/NM_001308076.1/0;CC=c.309+118_309+119insT;VC=Intron;Gene=ATL2/NM_001135673.2/0;CC=c.363+118_363+119insT;VC=Intron;Gene=ATL2/NM_022374.3/1;CC=c.363+118_363+119insT;VC=Intron;Gene=ATL2/NR_024191.1/0;VC=NonCoding;DM=ATL2/GBP;DM=ATL2/GBP;DM=ATL2/GBP;DM=ATL2/GBP;DM=ATL2/GBP;RN=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:T,TA,D:11:12:3:3:6,3,2:190,92,85:0.00,8.08,5.12:0.00,8.14,5.16:0.00,-0.06,-0.04:0.00,0.59,0.00:0.00,0.59,0.00:0.00,0.50,0.00:60,60,60:41.3,93.7,147.5:0,0,1:0,0,0:65,10,22:62,110,94:51,1,17:-,NM_001135673.1(ATL2) c.363+118_363+119insT:-,NOT_FOUND:-,NOT_FOUND 2 38570655 . C . . NT END=38604284;NT GT ./. 2 38604403 . C . . NT END=38791323;NT GT ./. 2 38709568 rs13013924 A G 153 nt VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.8349,G/0.1651;PC=1.000;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:101:74:0:0:52,1,48:1614,11,1598:0.00,-0.10,152.67:0.00,-0.15,91.21:0.00,0.05,61.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,54,60:9.3,65.0,41.9:0,0,0:0,0,0:64,72,68:85,79,81:35,0,34:-,chr2 g.38709567A>G (intergenic):-,0.15:-,NOT_FOUND 2 38710012 rs71402229 T TA 22 idl,rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;NP=48;NP=8;PC=0.008;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,T,TA:33:15:21:0:4,20,9:109,595,604:7.82,0.00,22.28:-0.20,0.00,8.05:8.02,0.00,14.23:0.00,0.00,0.99:0.00,0.00,0.93:0.00,0.00,1.00:60,60,60:188.2,43.3,132.8:3,13,12:0,0,0:49,109,73:102,41,54:30,17,32:-,chr2 g.38710012_38710013insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38710016 rs538061888 AAAT A 29 nt VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;PC=0.002;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAT,A:45:14:0:12:33,12:1059,350:0.00,29.40:0.00,4.26:0.00,25.13:0.00,1.00:0.00,0.97:0.00,1.00:60,60:73.7,56.2:15,0:0,0:74,103:55,47:41,9:-,chr2 g.38710017_38710019delAAT (intergenic):-,0.17:-,NOT_FOUND 2 38710019 rs2005502 T A 52 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6713,A/0.3287;PC=0.002;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:28:8:0:15:17,11:516,324:51.56,0.00:9.61,0.00:41.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.2,114.2:0,0:0,0:71,70:77,81:27,31:chr2 g.38710018T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 38710042 rs74326517 A T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=6;PC=0.011;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,T:40:5:0:0:31,9:910,227:0.00,17.77:0.00,-0.44:0.00,18.21:0.00,0.99:0.00,0.71:0.00,1.00:60,60:54.5,158.1:0,0:0,0:107,65:29,86:31,25:-,chr2 g.38710041A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38710043 rs77740865 T A 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=4;PC=0.002;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:40:5:0:0:9,31:262,911:21.25,0.00:-0.44,0.00:21.69,0.00:0.99,0.00:0.71,0.00:1.00,0.00:60,60:158.1,53.5:0,0:0,0:66,101:85,41:25,27:chr2 g.38710042T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 38710059 rs34556641 A G 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=4;PC=0.017;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,I:38:1:2:0:25,11,2:715,373,46:0.00,32.94,2.51:0.00,-0.07,-0.01:0.00,33.01,2.52:0.00,1.00,0.00:0.00,0.53,0.00:0.00,1.00,0.00:60,60,60:51.6,158.6,61.0:0,0,0:0,0,0:111,103,45:37,48,106:28,11,12:-,chr2 g.38710058A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38710063 . A G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;NP=3;PC=0.018;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,G,T:39:0:0:0:32,6,1:1023,196,7:0.00,15.27,-0.26:0.00,0.00,0.00:0.00,15.27,-0.26:0.00,0.88,0.00:0.00,0.00,0.00:0.00,0.88,0.00:60,60,60:82.3,72.3,88.0:0,0,0:0,0,0:95,143,65:56,7,86:25,4,0:-,chr2 g.38710062A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38710072 rs34589564 G A 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.011;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:0:0:0:17,18:499,588:47.41,0.00:0.00,0.00:47.41,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:125.1,38.3:0,0:0,0:106,91:43,51:21,37:chr2 g.38710071G>A (intergenic),-:0.15,-:NOT_FOUND,- 2 38717960 rs34926370 C CGTGTGTGT 10 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=5;NP=51;Gene=LOC101929596/NR_110259.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,CGTGTGTGT:5:6:5:0:2,3:63,157:0.00,9.84:0.00,6.50:0.00,3.34:0.00,0.69:0.00,0.95:0.00,0.89:60,70:0.0,8.7:0,2:0,0:144,35:6,116:4,21:-,chr2 g.38717960_38717961insGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 38791380 . C . . NT END=38793087;NT GT ./. 2 38793169 rs142500247 T C 111 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.9976,C/0.002396;NP=8;Gene=HNRNPLL/NM_001142650.1/1;CC=c.1559-1790A>G;VC=Intron;Gene=HNRNPLL/NM_138394.3/0;CC=c.1574-1790A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:67:56:0:0:35,32:1141,1001:110.63,0.00:69.52,0.00:41.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,5.7:0,0:0,0:50,68:93,79:25,33:NM_138394.3(HNRPLL) c.1574-1790A>G,-:0.0023,-:NOT_FOUND,- 2 38793343 . c . . NT END=38795340;NT GT ./. 2 38795440 . C . . NT END=38795527;NT GT ./. 2 38795586 . C . . NT END=38796274;NT GT ./. 2 38796477 . C . . NT END=38796945;NT GT ./. 2 38797068 . C . . NT END=38800351;NT GT ./. 2 38800570 . C . . NT END=38804602;NT GT ./. 2 38804675 . C . . NT END=38809054;NT GT ./. 2 38809128 . C . . NT END=38809213;NT GT ./. 2 38809311 . A . . NT END=38810982;NT GT ./. 2 38811069 . C . . NT END=38812785;NT GT ./. 2 38813024 . C . . NT END=38818671;NT GT ./. 2 38818791 . C . . NT END=38829579;NT GT ./. 2 38829737 rs34376380 G A 154 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.9892,A/0.01078;PC=1.000;Gene=HNRNPLL/NM_001142650.1/1;CC=c.17C>T;ProtCh=p.T6M;VC=Missense;Gene=HNRNPLL/NM_138394.3/0;CC=c.32C>T;ProtCh=p.T11M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:93:0:0:56,78:1665,2327:153.67,0.00:95.44,0.00:58.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.8,13.3:0,0:0,0:76,83:68,66:39,34:NM_138394.3(HNRPLL) c.32C>T (p.Thr11Met),-:0.02,-:0.018063,- 2 38830010 . T . . NT END=38893303;NT GT ./. 2 38893494 . G . . NT END=38903053;NT GT ./. 2 38903209 . G . . NT END=38908421;NT GT ./. 2 38908629 . G . . NT END=38916954;NT GT ./. 2 38916906 rs11687518 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7977,C/0.2023;PC=0.894;Gene=GALM/NM_138801.2/1;CC=c.553-49T>C;VC=Intron;DM=GALM/Aldose_epim;DM=GALM/Aldose_epim;DM=GALM/Aldose_epim;DM=GALM/Aldose_epim GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:26:0:0:11,19:353,587:31.99,0.00:23.68,0.00:8.31,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:53.0,23.8:0,0:0,0:68,48:82,102:43,25:NM_138801.2(GALM) c.553-49T>C,-:0.21,-:0.244656,- 2 38917037 . G . . NT END=38925507;NT GT ./. 2 38925579 . G . . NT END=38956697;NT GT ./. 2 38925655 . TA T 7 rn VT=DEL;SST=Single;DP=23;NP=2;Gene=GALM/NM_138801.2/1;CC=c.634+8632delA;VC=Intron;DM=GALM/Aldose_epim;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:TA,I,T:23:4:1:3:19,1,3:524,32,93:0.00,1.95,6.93:0.00,-0.05,-0.15:0.00,2.00,7.09:0.00,0.00,0.47:0.00,0.00,0.44:0.00,0.00,0.89:60,60,60:43.6,0.0,54.7:0,0,0:0,0,0:117,110,98:31,40,52:27,0,0:-,NM_138801.2(GALM) c.634+8620delA:-,NOT_FOUND:-,NOT_FOUND 2 38925708 rs13413726 G T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7011,T/0.2989;PC=0.002;Gene=GALM/NM_138801.2/1;CC=c.634+8672G>T;VC=Intron;DM=GALM/Aldose_epim GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:G,T:12:0:0:0:7,5:230,139:0.00,12.72:0.00,0.00:0.00,12.72:0.00,0.92:0.00,0.00:0.00,0.92:60,60:20.4,118.6:0,0:0,0:99,85:52,33:5,64:-,NM_138801.2(GALM) c.634+8672G>T:-,0.33:-,NOT_FOUND 2 38955828 rs71402250 A AAAAACAAAAC 7 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3978,AAAAACAAAAC/0.6022;DB;DBA=NA;PAF=A/0.3978,AAAAAC/.,AAAAACAAAAC/0.6022,AACAAAACAAAA/.,ACAAAA/.;NP=1;NP=157;PC=0.008;Gene=GALM/NM_138801.2/1;CC=c.635-841_635-840insCAAAACAAAA;VC=Intron;DM=GALM/Aldose_epim;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AAAAACAAAAC:5:4:3:0:2,3:68,71:0.00,6.86:0.00,4.89:0.00,1.97:0.00,0.78:0.00,0.97:0.00,0.94:60,60:32.5,44.7:0,0:0,0:58,70:74,81:25,21:-,NM_138801.2(GALM) c.635-870_635-869insAAAACAAAAC:-,NOT_FOUND:-,NOT_FOUND 2 38955866 rs6728394 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.388,A/0.612;PC=0.053;Gene=GALM/NM_138801.2/1;CC=c.635-832G>A;VC=Intron;DM=GALM/Aldose_epim GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:3:0:0:3,1:102,35:10.65,0.00:3.50,0.00:7.15,0.00:0.85,0.00:0.99,0.00:0.85,0.00:60,60:45.0,65.0:0,0:0,0:118,71:33,80:21,0:NM_138801.2(GALM) c.635-832G>A,-:0.62,-:NOT_FOUND,- 2 38956463 rs3112161 G A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8293,A/0.1707;PC=0.201;Gene=GALM/NM_138801.2/1;CC=c.635-235G>A;VC=Intron;DM=GALM/Aldose_epim GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:5:0:0:3,2:98,69:9.77,0.00:9.77,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:32.7,16.5:0,0:0,0:88,65:63,84:37,34:NM_138801.2(GALM) c.635-235G>A,-:0.19,-:NOT_FOUND,- 2 38956504 rs397690555 C CATTT 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3918,CATTT/0.6082,CATTTATTT/.;DB;DBA=NA;PAF=C/0.3918,CATTT/0.6082;NP=207;PC=0.002;Gene=GALM/NM_138801.2/1;CC=c.635-174_635-173insATTT;VC=Intron;DM=GALM/Aldose_epim;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,CATTT:7:7:3:0:4,3:136,93:0.00,8.65:0.00,8.65:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:24.2,0.0:0,0:0,0:88,28:62,123:47,23:-,NM_138801.2(GALM) c.635-194_635-193insATTT:-,0.61:-,NOT_FOUND 2 38956840 . G . . NT END=38958876;NT GT ./. 2 38956947 rs2272445 A G 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.389,G/0.611;Gene=GALM/NM_138801.2/1;CC=c.776+108A>G;VC=Intron;DM=GALM/Aldose_epim GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,C,G:11:1:0:0:4,1,6:102,5,197:0.00,0.01,19.63:0.00,0.00,1.81:0.00,0.01,17.82:0.00,0.00,0.98:0.00,0.00,0.70:0.00,0.00,0.98:60,60,60:20.2,5.0,34.0:0,0,0:0,0,0:58,100,112:92,51,38:13,0,16:-,NM_138801.2(GALM) c.776+108A>G:-,0.62:-,NOT_FOUND 2 38959052 . G . . NT END=38960629;NT GT ./. 2 38960362 rs10555489 CA C 11 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CA/0.1943,C/0.8057;NP=8;PC=0.062;Gene=GALM/NM_138801.2/1;CC=c.952-251delA;VC=Intron;DM=GALM/Aldose_epim;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:5:0:5:3:162:10.66:10.66:0.00:0.78:0.78:0.00:60:103.3:2:0:17:134:14:NM_138801.2(GALM) c.952-267delA,NM_138801.2(GALM) c.952-267delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 38960491 rs3097714 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8255,G/0.1745;PC=0.001;Gene=GALM/NM_138801.2/1;CC=c.952-139A>G;VC=Intron;DM=GALM/Aldose_epim GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:18:18:0:0:8,9,1:222,307,10:0.00,29.91,0.19:0.00,29.91,0.19:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:9.6,36.6,227.0:0,0,0:0,0,0:31,90,138:119,61,13:14,37,0:-,NM_138801.2(GALM) c.952-139A>G:-,0.19:-,NOT_FOUND 2 38960708 . G . . NT END=38972274;NT GT ./. 2 38972330 . C . . NT END=38973285;NT GT ./. 2 38973322 . C . . NT END=38973835;NT GT ./. 2 38973890 . C . . NT END=38975188;NT GT ./. 2 38975300 . C . . NT END=38975720;NT GT ./. 2 38975332 rs575777235 GT G 15 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=5;PC=0.028;Gene=SRSF7/NM_001031684.2/1;CC=c.462-34delA;VC=Intron;Gene=SRSF7/NM_001195446.1/0;CC=c.462-34delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:GT,I,G:44:20:2:7:36,2,6:1132,63,230:0.00,3.84,15.08:0.00,1.00,6.62:0.00,2.85,8.46:0.00,0.00,0.86:0.00,0.00,0.88:0.00,0.00,0.97:60,60,60:15.1,18.0,5.3:0,0,1:0,0,0:116,96,95:23,44,55:22,3,17:-,NM_001031684.2(SRSF7) c.462-34delA:-,NOT_FOUND:-,NOT_FOUND 2 38975796 . C . . NT END=38976108;NT GT ./. 2 38975942 rs536472794 AT A 12 rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=18;PC=0.996;Gene=SRSF7/NM_001031684.2/1;CC=c.387-148delA;VC=Intron;Gene=SRSF7/NM_001195446.1/0;CC=c.387-148delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:AT,I,A:36:21:1:5:30,1,5:896,33,155:0.00,1.86,11.66:0.00,-0.21,9.59:0.00,2.07,2.08:0.00,0.00,0.78:0.00,0.00,0.90:0.00,0.00,0.82:60,60,60:13.1,0.0,21.2:0,0,0:0,0,0:67,110,60:83,41,90:37,0,23:-,NM_001031684.2(SRSF7) c.387-148delA:-,NOT_FOUND:-,NOT_FOUND 2 38976489 . C . . NT END=38976670;NT GT ./. 2 38976848 . C . . NT END=38977155;NT GT ./. 2 38977337 . C . . NT END=38978370;NT GT ./. 2 38977371 rs3112183 C T 96 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.3355,T/0.6645;PC=0.599;Gene=SRSF7/NM_001031684.2/1;CC=c.29-35G>A;VC=Intron;Gene=SRSF7/NM_001195446.1/0;CC=c.29-35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:25:0:0:31,30:957,997:0.00,95.66:0.00,27.19:0.00,68.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,63.1:0,0:0,0:117,98:31,48:24,20:-,NM_001031684.2(SRSF7) c.29-35G>A:-,0.67:-,0.611641 2 38977402 rs3134630 T C 72 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.3337,C/0.6663;Gene=SRSF7/NM_001031684.2/1;CC=c.29-66A>G;VC=Intron;Gene=SRSF7/NM_001195446.1/0;CC=c.29-66A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:40:13:0:0:1,22,17:10,732,529:0.03,72.08,0.00:-0.04,15.63,0.00:0.07,56.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:162.0,73.8,9.1:0,0,0:0,0,0:18,120,113:133,29,34:0,18,23:NM_001031684.2(SRSF7) c.29-66A>G,-:0.68,-:NOT_FOUND,- 2 38977505 rs3134629 T C 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3341,C/0.6659;Gene=SRSF7/NM_001031684.2/1;CC=c.29-169A>G;VC=Intron;Gene=SRSF7/NM_001195446.1/0;CC=c.29-169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:9,8:225,246:21.58,0.00:0.00,0.00:21.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:62.3,30.8:0,0:0,0:66,104:85,45:43,16:NM_001031684.2(SRSF7) c.29-169A>G,-:0.68,-:NOT_FOUND,- 2 38977612 rs3134628 A G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.004;Gene=SRSF7/NM_001031684.2/1;CC=c.29-276T>C;VC=Intron;Gene=SRSF7/NM_001195446.1/0;CC=c.29-276T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:0:0:0:1,3:34,100:0.00,10.45:0.00,0.00:0.00,10.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:29.0,52.0:0,0:0,0:87,115:64,36:0,15:-,NM_001031684.2(SRSF7) c.29-276T>C:-,0.75:-,NOT_FOUND 2 38978399 . G . . NT END=39006132;NT GT ./. 2 38997172 rs3112192 A G 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7965,G/0.2035;PC=0.951 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:6:3:0:0:4,2:114,72:0.00,6.50:0.00,1.62:0.00,4.87:0.00,0.89:0.00,0.73:0.00,0.89:60,60:2.5,36.0:0,0:0,0:69,100:81,47:8,12:-,chr2 g.38997171A>G (intergenic):-,0.21:-,NOT_FOUND 2 39006261 . G . . NT END=39008658;NT GT ./. 2 39008468 rs1562855 C T 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.3862,T/0.6138;Gene=GEMIN6/NM_024775.9/1;CC=c.129-191C>T;VC=Intron;DM=GEMIN6/Gemin6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:13:13:0:0:9,4:306,132:0.00,11.62:0.00,11.62:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,60:4.7,33.0:0,0:0,0:32,49:116,101:19,28:-,NM_024775.9(GEMIN6) c.129-191C>T:-,0.64:-,NOT_FOUND 2 39009035 . G . . NT END=39025440;NT GT ./. 2 39025555 rs1530853 G A 143 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.4119,A/0.5881;PC=0.003;Gene=DHX57/NM_198963.1/1;CC=c.4047C>T;ProtCh=p.C1349=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:53:0:0:46,46:1491,1514:143.31,0.00:68.37,0.00:74.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.6,3.2:0,0:0,0:71,73:80,70:40,34:NM_198963.1(DHX57) c.4047C>T (p.(=)),-:0.61,-:0.541212,- 2 39025585 . C . . NT END=39029856;NT GT ./. 2 39025632 rs1530852 A G 103 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.4109,G/0.5891;Gene=DHX57/NM_198963.1/1;CC=c.4018-48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:23:0:0:27,33:880,1056:0.00,103.37:0.00,32.87:0.00,70.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,63.1:0,0:0,0:102,108:37,42:25,17:-,NM_198963.1(DHX57) c.4018-48T>C:-,0.61:-,0.539674 2 39025941 rs12996194 C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4177,T/0.5823;PC=0.023;Gene=DHX57/NM_198963.1/1;CC=c.4018-357G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:37.8:0:0:103:47:26:NM_198963.1(DHX57) c.4018-357G>A,NM_198963.1(DHX57) c.4018-357G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 39029532 rs3112210 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6905,T/0.3095;PC=0.002;Gene=DHX57/NM_198963.1/1;CC=c.4017+325G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:87:10.55:10.55:0.00:1.00:1.00:0.00:60:114.5:0:0:56:94:28:NM_198963.1(DHX57) c.4017+325G>A,NM_198963.1(DHX57) c.4017+325G>A:0.32,0.32:NOT_FOUND,NOT_FOUND 2 39030058 . C . . NT END=39033700;NT GT ./. 2 39030074 rs13029406 C T 140 nt VT=SNV;PN=T;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.4191,T/0.5809;PC=0.993;Gene=DHX57/NM_198963.1/1;CC=c.3817-17G>A;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:33:0:0:38,47:1307,1429:0.00,139.77:0.00,38.76:0.00,101.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,35.1:0,0:0,0:93,89:54,60:36,27:-,NM_198963.1(DHX57) c.3817-17G>A:-,0.6:-,0.533369 2 39033590 rs3099968 T C 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.7941,C/0.2059;Gene=DHX57/NM_198963.1/1;CC=c.3816+111A>G;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:12,14:339,399:31.78,0.00:32.05,0.00:-0.27,0.00:1.00,0.00:1.00,0.00:0.76,0.00:60,60:39.8,9.7:0,0:0,0:44,20:105,130:29,16:NM_198963.1(DHX57) c.3816+111A>G,-:0.21,-:NOT_FOUND,- 2 39033836 . C . . NT END=39040962;NT GT ./. 2 39034007 rs546333028 CT C 17 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CT/0.3982,C/0.6018;DB;DBA=NA;PAF=CT/0.3982,C/0.6018;NP=11;Gene=DHX57/NM_198963.1/1;CC=c.3682-173delA;VC=Intron;DM=DHX57/OB_NTP_bind;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:CT,C:13:0:0:7:7,6:210,216:0.00,17.16:0.00,0.00:0.00,17.16:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,5.2:0,1:0,0:131,95:15,56:13,22:-,NM_198963.1(DHX57) c.3682-173delA:-,NOT_FOUND:-,NOT_FOUND 2 39037813 rs3112215 G A 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7121,A/0.2879;PC=1.000;Gene=DHX57/NM_198963.1/1;CC=c.3681+3150C>T;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:9:9:0:0:5,4:167,140:16.40,0.00:11.20,0.00:5.20,0.00:0.96,0.00:0.96,0.00:0.99,0.00:60,60:40.2,4.8:0,0:0,0:35,68:115,83:24,22:NM_198963.1(DHX57) c.3681+3150C>T,-:0.29,-:NOT_FOUND,- 2 39038725 rs3112216 C T 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6907,T/0.3093;PC=1.000;Gene=DHX57/NM_198963.1/1;CC=c.3681+2238G>A;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:14:11:0:0:5,9:167,270:0.00,27.29:0.00,12.41:0.00,14.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,43.7:0,0:0,0:28,38:123,100:20,27:-,NM_198963.1(DHX57) c.3681+2238G>A:-,0.31:-,NOT_FOUND 2 39040845 rs7419838 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7043,A/0.2957;Gene=DHX57/NM_198963.1/1;CC=c.3681+118C>T;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:18:0:0:8,11:267,264:25.00,0.00:21.70,0.00:3.30,0.00:0.99,0.00:1.00,0.00:0.61,0.00:60,60:39.1,42.5:0,0:0,0:36,41:115,110:25,30:NM_198963.1(DHX57) c.3681+118C>T,-:0.29,-:NOT_FOUND,- 2 39041038 . C . . NT END=39042662;NT GT ./. 2 39041359 rs4670897 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4173,T/0.5827;PC=0.099;Gene=DHX57/NM_198963.1/1;CC=c.3607-322G>A;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,T:6:0:0:0:3,3:88,81:0.00,7.70:0.00,0.00:0.00,7.70:0.00,0.73:0.00,0.00:0.00,0.73:60,60:19.0,52.7:0,0:0,0:77,88:73,63:33,17:-,NM_198963.1(DHX57) c.3607-322G>A:-,0.6:-,NOT_FOUND 2 39042496 rs10865144 C T 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4183,T/0.5817;Gene=DHX57/NM_198963.1/1;CC=c.3606+167G>A;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:26:0:0:14,12:428,421:0.00,40.03:0.00,40.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.6,39.2:0,0:0,0:74,43:76,107:15,25:-,NM_198963.1(DHX57) c.3606+167G>A:-,0.6:-,NOT_FOUND 2 39042639 rs3112138 G A 338 nt VT=SNV;PN=T;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.09645,A/0.9036;Gene=DHX57/NM_198963.1/1;CC=c.3606+24C>T;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:94:79:0:0:94:2932:337.79:244.29:93.50:1.00:1.00:1.00:60:41.0:0:0:48:96:27:NM_198963.1(DHX57) c.3606+24C>T,NM_198963.1(DHX57) c.3606+24C>T:0.92,0.92:0.910195,0.910195 2 39042798 . C . . NT END=39046018;NT GT ./. 2 39045885 rs10176932 C T 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4732,T/0.5268;Gene=DHX57/NM_198963.1/1;CC=c.3471+134G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:20:0:0:7,13:216,416:0.00,42.18:0.00,42.18:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:25.6,37.3:0,0:0,0:90,43:61,108:29,27:-,NM_198963.1(DHX57) c.3471+134G>A:-,0.55:-,NOT_FOUND 2 39046103 . C . . NT END=39046190;NT GT ./. 2 39046287 . C . . NT END=39050134;NT GT ./. 2 39046321 rs3832124 CT C 6 rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=45;Gene=DHX57/NM_198963.1/1;CC=c.3292-36delA;VC=Intron;DM=DHX57/HA2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CT,I,C:40:17:2:3:35,2,3:1141,64,95:0.00,3.98,6.38:0.00,-0.27,-0.41:0.00,4.24,6.78:0.00,0.00,0.37:0.00,0.00,0.62:0.00,0.00,0.81:60,60,60:19.8,0.0,11.3:0,0,0:0,0,0:97,84,41:39,65,110:24,10,22:-,NM_198963.1(DHX57) c.3292-36delA:-,NOT_FOUND:-,0.12912 2 39050019 rs3112146 G T 92 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.08586,T/0.9141;PC=0.003;Gene=DHX57/NM_198963.1/1;CC=c.3291+116C>A;VC=Intron;DM=DHX57/HA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:25:0:0:26:794:91.69:87.81:3.88:1.00:1.00:1.00:60:51.3:0:0:25:124:19:NM_198963.1(DHX57) c.3291+116C>A,NM_198963.1(DHX57) c.3291+116C>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 39050061 rs34582261 AT A 144 nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=AT/0.09065,A/0.9093;NP=2876;PC=0.001;Gene=DHX57/NM_198963.1/1;CC=c.3291+73delA;VC=Intron;DM=DHX57/HA2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:AT,A:43:38:0:41:2,41:44,1283:0.00,144.50:0.00,117.53:0.00,26.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:81.5,36.1:0,0:0,0:136,39:4,110:9,17:NM_198963.1(DHX57) c.3291+73delA,NM_198963.1(DHX57) c.3291+73delA:0.93,0.93:NOT_FOUND,NOT_FOUND 2 39050141 rs3770681 A C 164 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.4008,C/0.5992;PC=0.975;Gene=DHX57/NM_198963.1/1;CC=c.3285T>G;ProtCh=p.S1095=;VC=Silent;DM=DHX57/HA2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:98:80:0:0:45,53:1515,1686:0.00,164.38:0.00,119.53:0.00,44.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,40.1:0,0:0,0:61,53:85,98:32,36:-,NM_198963.1(DHX57) c.3285T>G (p.(=)):-,0.62:-,0.556512 2 39050412 . C . . NT END=39052988;NT GT ./. 2 39053190 . C . . NT END=39053657;NT GT ./. 2 39053545 rs7589162 G C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4145,C/0.5855;PC=0.001;Gene=DHX57/NM_198963.1/1;CC=c.2813+113C>G;VC=Intron;DM=DHX57/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:18:0:0:9,11:297,343:28.03,0.00:24.69,0.00:3.34,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:42.6,6.2:0,0:0,0:45,29:106,122:28,23:NM_198963.1(DHX57) c.2813+113C>G,-:0.61,-:NOT_FOUND,- 2 39053832 . C . . NT END=39055481;NT GT ./. 2 39054048 rs3099980 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7931,A/0.2069;PC=0.001;Gene=DHX57/NM_198963.1/1;CC=c.2640-217C>T;VC=Intron;DM=DHX57/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:5:0:0:0:3,2:105,65:10.47,0.00:0.00,0.00:10.47,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:37.3,0.0:0,0:0,0:116,118:34,32:12,21:NM_198963.1(DHX57) c.2640-217C>T,-:0.21,-:NOT_FOUND,- 2 39055262 rs3099984 A T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6819,T/0.3181;PC=0.003;Gene=DHX57/NM_198963.1/1;CC=c.2639+220T>A;VC=Intron;DM=DHX57/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,T:4:4:0:0:1,3:32,85:0.00,8.95:0.00,8.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,115.3:0,0:0,0:102,45:49,96:0,33:-,NM_198963.1(DHX57) c.2639+220T>A:-,0.32:-,NOT_FOUND 2 39055579 . C . . NT END=39064972;NT GT ./. 2 39065090 . C . . NT END=39070146;NT GT ./. 2 39070353 . C . . NT END=39074160;NT GT ./. 2 39074216 . C . . NT END=39075410;NT GT ./. 2 39075098 rs2044853 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.08067,G/0.9193;Gene=DHX57/NM_198963.1/1;CC=c.2164+313T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:33.2:0:0:54:96:13:NM_198963.1(DHX57) c.2164+313T>C,NM_198963.1(DHX57) c.2164+313T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 39075356 rs11124651 A C 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.4056,C/0.5944;PC=1.000;Gene=DHX57/NM_198963.1/1;CC=c.2164+55T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:35:0:0:20,20:628,663:0.00,63.81:0.00,57.42:0.00,6.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,41.2:0,0:0,0:38,40:111,110:20,23:-,NM_198963.1(DHX57) c.2164+55T>G:-,0.61:-,NOT_FOUND 2 39075545 . C . . NT END=39081195;NT GT ./. 2 39081341 . A . . NT END=39082198;NT GT ./. 2 39082344 rs7598922 T C 134 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.4109,C/0.5891;PC=0.135;Gene=DHX57/NM_198963.1/1;CC=c.1760A>G;ProtCh=p.N587S;VC=Missense;DM=DHX57/DEAD;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:103:54:0:0:1,44,58:11,1435,1847:-0.13,134.19,0.00:-0.09,40.30,0.00:-0.03,93.89,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:48.0,37.5,5.1:0,0,0:0,0,0:9,97,96:142,52,51:0,33,32:NM_198963.1(DHX57) c.1760A>G (p.Asn587Ser),-:0.6,-:0.535907,- 2 39082395 . C . . NT END=39083481;NT GT ./. 2 39082579 rs72020623 CCAATCAAAAGGA C 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CCAATCAAAAGGA/0.8355,C/0.1645;DB;DBA=NA;PAF=CCAATCAAAAGGA/0.8355,C/0.1645;NP=44;Gene=DHX57/NM_198963.1/1;CC=c.1710-197_1710-186delTCCTTTTGATTG;VC=Intron;DM=DHX57/DEAD;DM=DHX57/OB_NTP_bind;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:CCAATCAAAAGGA,C:7:0:0:3:4,3:124,100:0.00,9.36:0.00,0.00:0.00,9.36:0.00,0.69:0.00,0.00:0.00,0.69:60,60:8.0,0.0:0,0:0,0:134,102:13,49:2,19:-,NM_198963.1(DHX57) c.1710-197_1710-186delTCCTTTTGATTG:-,0.18:-,NOT_FOUND 2 39083229 rs3099997 C G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.117,G/0.883;Gene=DHX57/NM_198963.1/1;CC=c.1709+253G>C;VC=Intron;DM=DHX57/DEAD;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:69.2:0:0:57:94:36:NM_198963.1(DHX57) c.1709+253G>C,NM_198963.1(DHX57) c.1709+253G>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 39083604 . C . . NT END=39085802;NT GT ./. 2 39083645 rs372510406 CT C 30 sb;idl,rn VT=DEL;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=1;Gene=DHX57/NM_198963.1/1;CC=c.1588-43delA;VC=Intron;DM=DHX57/OB_NTP_bind;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:CT,T,I,C:114:68:11:23:88,4,9,13:2798,89,330,690:0.00,3.99,17.69,29.94:0.00,-0.62,1.16,0.50:0.00,4.61,16.53,29.45:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:20.1,67.8,28.7,42.3:0,0,2,9:0,0,0,0:108,52,70,78:20,92,69,66:25,16,17,29:-,NM_198963.1(DHX57) c.1588-43delA:-,NOT_FOUND:-,NOT_FOUND 2 39083812 rs3099998 T G 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.8129,G/0.1871;PC=0.070;Gene=DHX57/NM_198963.1/1;CC=c.1588-209A>C;VC=Intron;DM=DHX57/OB_NTP_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:0:0:0:12,18:387,571:35.64,0.00:0.00,0.00:35.64,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:54.2,6.2:0,0:0,0:65,94:85,56:16,40:NM_198963.1(DHX57) c.1588-209A>C,-:0.2,-:NOT_FOUND,- 2 39085573 rs10573961 CTG C 11 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CTG/0.4139,C/0.5861;NP=769;Gene=DHX57/NM_198963.1/1;CC=c.1587+228_1587+229delCA;VC=Intron;DM=DHX57/OB_NTP_bind;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CTG,C:6:6:0:4:2,4:69,110:0.00,11.24:0.00,11.24:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,19.2:0,0:0,0:29,27:121,123:9,13:-,NM_198963.1(DHX57) c.1587+228_1587+229delCA:-,0.6:-,NOT_FOUND 2 39085979 . C . . NT END=39088140;NT GT ./. 2 39088323 rs11893062 G A 166 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.9766,A/0.02336;PC=1.000;Gene=DHX57/NM_198963.1/1;CC=c.1229C>T;ProtCh=p.S410F;VC=Missense;DM=DHX57/HA2;DM=DHX57/RWD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:68:0:0:52,42:1693,1385:166.03,0.00:102.27,0.00:63.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,4.7:0,0:0,0:73,69:73,78:43,41:NM_198963.1(DHX57) c.1229C>T (p.Ser410Phe),-:0.03,-:0.0499,- 2 39088980 . C . . NT END=39089286;NT GT ./. 2 39089476 . C . . NT END=39090502;NT GT ./. 2 39090662 . C . . NT END=39095323;NT GT ./. 2 39090696 rs3099999 T C 214 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.01058,A/.,C/0.9894;NP=3468;Gene=DHX57/NM_198963.1/1;CC=c.225-35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C:58:29:0:0:58:1865:214.08:65.71:148.37:1.00:1.00:1.00:60:37.6:0:0:100:46:19:NM_198963.1(DHX57) c.225-35A>G,NM_198963.1(DHX57) c.225-35A>G:0.99,0.99:0.99062,0.99062 2 39090828 rs3100000 C G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7682,G/0.2318;Gene=DHX57/NM_198963.1/1;CC=c.225-167G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:C,G:8:0:0:0:2,6:49,202:0.00,21.11:0.00,0.00:0.00,21.11:0.00,1.00:0.00,0.00:0.00,1.00:60,60:22.0,43.2:0,0:0,0:95,89:55,60:42,27:-,NM_198963.1(DHX57) c.225-167G>C:-,0.25:-,NOT_FOUND 2 39095548 . T . . NT END=39108582;NT GT ./. 2 39108720 . G . . NT END=39109553;NT GT ./. 2 39108773 rs3099948 A G 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.8081,G/0.1919;PC=0.001;Gene=MORN2/NM_001145450.1/1;CC=c.137+54A>G;VC=Intron;DM=MORN2/MORN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:21:0:0:22,30:681,992:0.00,98.13:0.00,28.67:0.00,69.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,51.8:0,0:0,0:100,102:34,48:33,19:-,NM_001145450.1(MORN2) c.137+54A>G:-,0.21:-,NOT_FOUND 2 39109393 rs3099949 T G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7933,G/0.2067;PC=0.060;Gene=MORN2/NM_001145450.1/1;CC=c.138-161T>G;VC=Intron;DM=MORN2/MORN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:G,T:8:8:0:0:4,4:113,91:10.80,0.00:10.80,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:32.2,52.5:0,0:0,0:14,51:135,94:8,43:NM_001145450.1(MORN2) c.138-161T>G,-:0.22,-:NOT_FOUND,- 2 39109657 . A . . NT END=39146588;NT GT ./. 2 39146614 . G . . NT END=39148514;NT GT ./. 2 39148565 . G . . NT END=39156047;NT GT ./. 2 39156213 . G . . NT END=39156849;NT GT ./. 2 39156972 . G . . NT END=39158249;NT GT ./. 2 39158393 . G . . NT END=39162915;NT GT ./. 2 39162785 rs5830547 CT C 20 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CT/0.7616,C/0.2384;DB;DBA=NA;PAF=CT/0.7616,C/0.2384;NP=463;PC=0.003;Gene=ARHGEF33/NM_001145451.2/1;CC=c.506-123delT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:16:16:0:7:9,7:299,212:0.00,19.77:0.00,19.77:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:16.8,21.1:0,0:0,0:30,41:121,109:29,31:-,NM_001145451.2(ARHGEF33) c.506-130delT:-,NOT_FOUND:-,NOT_FOUND 2 39162976 . G . . NT END=39164475;NT GT ./. 2 39163209 rs390008 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5669,C/0.4331;PC=0.001;Gene=ARHGEF33/NM_001145451.2/1;CC=c.565+234T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:4:0:0:0:2,2:70,61:6.75,0.00:0.00,0.00:6.75,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:35.0,5.5:0,0:0,0:114,28:36,122:5,27:NM_001145451.2(ARHGEF33) c.565+234T>C,-:0.42,-:NOT_FOUND,- 2 39164701 . G . . NT END=39171041;NT GT ./. 2 39170683 rs398080193 TG T 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TG/0.1506,T/0.8494;DB;DBA=NA;PAF=TG/0.1506,T/0.8494;DB;DBA=NA;PAF=TG/0.1506,T/0.8494;NP=23;PC=0.003;Gene=ARHGEF33/NM_001145451.2/1;CC=c.791-353delG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:92:11.08:11.08:0.00:1.00:1.00:0.00:60:65.0:0:0:65:85:31:NM_001145451.2(ARHGEF33) c.791-358delG,NM_001145451.2(ARHGEF33) c.791-358delG:0.86,0.86:NOT_FOUND,NOT_FOUND 2 39170932 rs397984349 GT G 101 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=725;PC=0.002;Gene=ARHGEF33/NM_001145451.2/1;CC=c.791-100delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:GT,G:32:30:0:29:3,29:78,910:0.00,100.59:0.00,85.80:0.00,14.79:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,9.8:0,0:0,0:70,38:81,112:55,23:-,NM_001145451.2(ARHGEF33) c.791-109delT:-,NOT_FOUND:-,NOT_FOUND 2 39171172 . G . . NT END=39178129;NT GT ./. 2 39172017 rs397942466 G GGTGT 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1062,GGT/.,GGTGT/0.8938,GGTGTGTGT/.;DB;DBA=NA;PAF=NA;NP=103;NP=6;PC=0.002;Gene=ARHGEF33/NM_001145451.2/1;CC=c.920+871_920+872insTGTG;VC=Intron;DM=ARHGEF33/RhoGEF;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,GGTGT:4:5:3:0:2,2:66,98:0.00,6.41:0.00,4.80:0.00,1.62:0.00,0.46:0.00,0.46:0.00,0.46:60,60:0.0,52.0:0,1:0,0:124,30:13,105:25,22:-,NM_001145451.2(ARHGEF33) c.920+846_920+847insGTGT:-,NOT_FOUND:-,NOT_FOUND 2 39172043 rs2599075 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1052,T/0.8948;Gene=ARHGEF33/NM_001145451.2/1;CC=c.920+872C>T;VC=Intron;DM=ARHGEF33/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:137:15.61:3.93:11.68:1.00:1.00:1.00:60:34.2:0:0:81:60:33:NM_001145451.2(ARHGEF33) c.920+872C>T,NM_001145451.2(ARHGEF33) c.920+872C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 2 39178263 . G . . NT END=39180302;NT GT ./. 2 39178493 rs441869 G C 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.08047,C/0.9195;Gene=ARHGEF33/NM_001145451.2/1;CC=c.1053+231G>C;VC=Intron;DM=ARHGEF33/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:416:48.21:0.00:48.21:1.00:0.00:1.00:60:47.1:0:0:106:43:23:NM_001145451.2(ARHGEF33) c.1053+231G>C,NM_001145451.2(ARHGEF33) c.1053+231G>C:0.92,0.92:NOT_FOUND,NOT_FOUND 2 39180129 rs2603144 C T 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2548,T/0.7452;Gene=ARHGEF33/NM_001145451.2/1;CC=c.1054-174C>T;VC=Intron;DM=ARHGEF33/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:16:0:0:16:517:59.31:59.31:0.00:1.00:1.00:0.00:60:49.1:0:0:59:92:44:NM_001145451.2(ARHGEF33) c.1054-174C>T,NM_001145451.2(ARHGEF33) c.1054-174C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 2 39180387 . G . . NT END=39181513;NT GT ./. 2 39181598 . G . . NT END=39184039;NT GT ./. 2 39181774 rs10706405 CT C 11 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CT/0.2334,C/0.7666;NP=48;PC=0.001;Gene=ARHGEF33/NM_001145451.2/1;CC=c.1221+195delT;VC=Intron;DM=ARHGEF33/RhoGEF;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:CT,C:8:0:0:5:4,4:113,139:0.00,11.18:0.00,0.00:0.00,11.18:0.00,0.85:0.00,0.00:0.00,0.85:60,60:42.0,36.8:0,2:0,0:138,82:10,69:2,30:-,NM_001145451.2(ARHGEF33) c.1221+178delT:-,NOT_FOUND:-,NOT_FOUND 2 39184189 . G . . NT END=39185174;NT GT ./. 2 39184366 rs62144301 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9748,G/0.02516;Gene=ARHGEF33/NM_001145451.2/1;CC=c.1370+178A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,G:8:0:0:0:3,5:78,156:0.00,15.70:0.00,0.00:0.00,15.70:0.00,0.97:0.00,0.00:0.00,0.97:60,60:42.7,54.8:0,0:0,0:143,97:8,53:1,9:-,NM_001145451.2(ARHGEF33) c.1370+178A>G:-,0.04:-,NOT_FOUND 2 39185048 rs422854 C T 76 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.1082,T/0.8918;PC=0.014;Gene=ARHGEF33/NM_001145451.2/1;CC=c.1371-127C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C,T:22:22:0:0:1,21:8,670:0.00,75.56:0.00,73.53:0.00,2.03:0.00,1.00:0.00,1.00:0.00,0.97:60,60:161.0,36.7:0,0:0,0:149,56:2,95:0,21:NM_001145451.2(ARHGEF33) c.1371-127C>T,NM_001145451.2(ARHGEF33) c.1371-127C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 2 39185340 . G . . NT END=39186981;NT GT ./. 2 39187190 rs6755527 T C 842 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=226;DB;DBA=NA;PAF=T/0.08307,C/0.9169;PC=0.973;Gene=ARHGEF33/NM_001145451.2/1;CC=c.1744T>C;ProtCh=p.S582P;VC=Missense;Gene=LOC375196/NR_028386.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:226:153:0:0:224,2:7404,57:842.08,0.00:434.58,0.00:407.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,12.5:0,0:0,0:79,68:69,82:30,0:NM_001145451.2(ARHGEF33) c.1744T>C (p.Ser582Pro),NM_001145451.2(ARHGEF33) c.1744T>C (p.Ser582Pro):0.92,0.92:0.944054,0.944054 2 39187519 rs958412 A G 725 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=190;DB;DBA=NA;PAF=A/0.09984,G/0.9002;PC=1.000;Gene=ARHGEF33/NM_001145451.2/1;CC=c.2073A>G;ProtCh=p.K691=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:190:121:0:0:190:6346:724.87:341.72:383.15:1.00:1.00:1.00:60:40.3:0:0:83:64:38:NM_001145451.2(ARHGEF33) c.2073A>G (p.(=)),NM_001145451.2(ARHGEF33) c.2073A>G (p.(=)):0.91,0.91:NOT_FOUND,NOT_FOUND 2 39187790 . G . . NT END=39193146;NT GT ./. 2 39193287 . G . . NT END=39200854;NT GT ./. 2 39200985 . A . . NT END=39212964;NT GT ./. 2 39201073 rs141703594 CTA C 10 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.997;Gene=ARHGEF33/NM_001145451.2/1;CC=c.*105_*106delAT;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:CTA,C:15:4:0:4:11,4:318,120:0.00,10.13:0.00,3.10:0.00,7.03:0.00,0.76:0.00,0.71:0.00,0.97:60,60:18.5,6.5:0,0:0,0:115,116:35,34:30,3:-,NM_001145451.2(ARHGEF33) c.*91AT[7]:-,NOT_FOUND:-,NOT_FOUND 2 39213457 . C . . NT END=39214613;NT GT ./. 2 39214733 . C . . NT END=39216410;NT GT ./. 2 39214821 rs2290445 A C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.09764,C/0.9024;Gene=SOS1/NM_005633.3/1;CC=c.3392-89T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:207:23.56:0.00:23.56:1.00:0.00:1.00:60:36.3:0:0:121:30:7:NM_005633.3(SOS1) c.3392-89T>G,NM_005633.3(SOS1) c.3392-89T>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 39216456 . C . . NT END=39222263;NT GT ./. 2 39222529 . C . . NT END=39224062;NT GT ./. 2 39224180 . C . . NT END=39224393;NT GT ./. 2 39224351 rs1454223 G T 107 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.09984,T/0.9002;Gene=SOS1/NM_005633.3/1;CC=c.2964+43C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:T:30:24:0:0:30:923:106.58:73.39:33.19:1.00:1.00:1.00:60:47.4:0:0:42:108:19:NM_005633.3(SOS1) c.2964+43C>A,NM_005633.3(SOS1) c.2964+43C>A:0.91,0.91:0.946002,0.946002 2 39224567 . C . . NT END=39233552;NT GT ./. 2 39224615 rs5830551 G GT 73 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.2121,GT/0.7879;DB;DBA=NA;PAF=G/0.2121,GT/0.7879,GTT/.;NP=3199;Gene=SOS1/NM_005633.3/1;CC=c.2792-50dupA;VC=Intron;DM=SOS1/RasGEF;DM=SOS1/RasGEF;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:G,GT:27:5:23:0:5,22:165,709:0.00,72.93:0.00,10.62:0.00,62.31:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.4,8.5:0,1:0,0:144,108:6,42:1,26:-,NM_005633.3(SOS1) c.2792-50_2792-49insA:-,NOT_FOUND:-,0.828425 2 39224747 . AT A,ATTT 6 idl,nt VT=INS;SST=Single;DP=6;PC=0.011;DM=SOS1/RasGEF;DM=SOS1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:31:AT,ATTT,A:5:0:3:2:1,2,2:30,99,58:0.00,6.42,5.62:0.00,0.00,0.00:0.00,6.42,5.62:0.00,0.89,0.00:0.00,0.00,0.00:0.00,0.89,0.00:60,60,60:0.0,0.0,21.5:0,1,0:0,0,0:148,110,73:3,40,77:0,17,16:NM_005633.3(SOS1) c.2792-182delA,NM_005633.3(SOS1) c.2792-182A[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 39233500 rs7577088 G A 68 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.09485,A/0.9052;Gene=SOS1/NM_005633.3/1;CC=c.2791+53C>T;VC=Intron;DM=SOS1/RasGEF;DM=SOS1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:19:0:0:19:594:68.46:62.79:5.67:1.00:1.00:1.00:60:32.4:0:0:41:110:35:NM_005633.3(SOS1) c.2791+53C>T,NM_005633.3(SOS1) c.2791+53C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 39233671 . C . . NT END=39234171;NT GT ./. 2 39234335 . C . . NT END=39237724;NT GT ./. 2 39237845 . C . . NT END=39239266;NT GT ./. 2 39238037 . CT C,CTTCTT 30 idl,nt VT=INS;SST=Single;DP=14;PC=0.004;DM=SOS1/RasGEF;DM=SOS1/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:CT,CTTCTT,C:11:0:12:1:1,9,1:32,362,33:0.00,30.12,2.60:0.00,0.00,0.00:0.00,30.12,2.60:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,70,60:0.0,21.7,35.0:0,3,0:0,0,0:149,120,91:1,30,60:0,16,0:NM_005633.3(SOS1) c.2391-194delA,NM_005633.3(SOS1) c.2391-194_2391-193insAGAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 39239490 . C . . NT END=39240600;NT GT ./. 2 39239572 rs3796038 G C 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2684,C/0.7316;Gene=SOS1/NM_005633.3/1;CC=c.2168-83C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:1:0:0:15:523:59.45:2.04:57.42:1.00:1.00:1.00:60:38.4:0:0:100:51:11:NM_005633.3(SOS1) c.2168-83C>G,NM_005633.3(SOS1) c.2168-83C>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 39240705 . C . . NT END=39241007;NT GT ./. 2 39241131 . C . . NT END=39241905;NT GT ./. 2 39241988 . C . . NT END=39249710;NT GT ./. 2 39250367 . C . . NT END=39251150;NT GT ./. 2 39251279 . C . . NT END=39262352;NT GT ./. 2 39251375 rs56299761 T TCAC 90 sb,nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.1056,TCAC/0.8944;DB;DBA=NA;PAF=T/0.1056,TCAC/0.8944;NP=2915;Gene=SOS1/NM_005633.3/1;CC=c.1075-100_1075-98dupGTG;VC=Intron;DM=SOS1/RhoGEF;DM=SOS1/RhoGEF;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:TCAC:26:1:26:0:26:776:89.97:1.79:88.18:1.00:1.00:1.00:70:12.7:0:0:98:51:27:NM_005633.3(SOS1) c.1075-98_1075-97insGTG,NM_005633.3(SOS1) c.1075-98_1075-97insGTG:0.9,0.9:NOT_FOUND,NOT_FOUND 2 39262068 rs10153761 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1004,T/0.8996;Gene=SOS1/NM_005633.3/1;CC=c.1074+285G>A;VC=Intron;DM=SOS1/RhoGEF;DM=SOS1/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:5:0:0:5:121:14.40:14.40:0.00:1.00:1.00:0.00:60:54.4:0:0:39:107:17:NM_005633.3(SOS1) c.1074+285G>A,NM_005633.3(SOS1) c.1074+285G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 39262452 . C . . NT END=39262530;NT GT ./. 2 39262642 . C . . NT END=39278284;NT GT ./. 2 39278066 rs4670907 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1058,T/0.8942;PC=0.002;Gene=SOS1/NM_005633.3/1;CC=c.864+219G>A;VC=Intron;DM=SOS1/RhoGEF;DM=SOS1/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:6:6:0:0:1,5:9,144:0.63,16.39:0.63,16.39:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:154.0,53.4:0,0:0,0:53,46:96,101:0,37:NM_005633.3(SOS1) c.864+219G>A,NM_005633.3(SOS1) c.864+219G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 39278429 . C . . NT END=39281754;NT GT ./. 2 39281730 rs997344 G C 97 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1086,C/0.8914;Gene=SOS1/NM_005633.3/1;CC=c.720+25C>G;VC=Intron;DM=SOS1/RhoGEF;DM=SOS1/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:24:0:0:25:848:96.72:76.59:20.13:1.00:1.00:1.00:60:37.1:0:0:50:98:19:NM_005633.3(SOS1) c.720+25C>G,NM_005633.3(SOS1) c.720+25C>G:0.9,0.9:0.937346,0.937346 2 39281965 . C . . NT END=39283842;NT GT ./. 2 39282079 rs2060987 A G 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1074,G/0.8926;Gene=SOS1/NM_005633.3/1;CC=c.511-115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:177:20.08:0.00:20.08:1.00:0.00:1.00:60:37.6:0:0:105:46:24:NM_005633.3(SOS1) c.511-115T>C,NM_005633.3(SOS1) c.511-115T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 2 39284008 . C . . NT END=39285813;NT GT ./. 2 39285946 . C . . NT END=39294768;NT GT ./. 2 39294895 . C . . NT END=39347476;NT GT ./. 2 39347646 . G . . NT END=39405687;NT GT ./. 2 39405457 rs6710989 G A 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.05451,A/0.9455 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:174:19.78:19.78:0.00:1.00:1.00:0.00:60:34.8:0:0:60:91:1:chr2 g.39405456G>A (intergenic),chr2 g.39405456G>A (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 2 39406463 . C . . NT END=39411731;NT GT ./. 2 39406572 rs7566123 C A 62 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.1583,A/0.8417;Gene=CDKL4/NM_001009565.1/1;CC=c.793-110G>T;VC=Intron;DM=CDKL4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:2:0:0:18:538:62.27:3.43:58.84:1.00:1.00:1.00:60:40.7:0:0:100:51:16:NM_001009565.1(CDKL4) c.793-110G>T,NM_001009565.1(CDKL4) c.793-110G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 39411789 . C . . NT END=39414767;NT GT ./. 2 39411863 rs141702509 A ATG 10 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=109;PC=0.296;Gene=CDKL4/NM_001009565.1/1;CC=c.736-76_736-75insCA;VC=Intron;DM=CDKL4/Pkinase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,ATG,D:22:11:5:3:16,4,2:512,159,98:0.00,10.23,4.89:0.00,2.24,1.13:0.00,7.99,3.76:0.00,0.68,0.00:0.00,0.81,0.00:0.00,0.92,0.00:60,60,60:7.6,37.0,7.0:0,1,1:0,0,0:102,94,38:43,57,100:40,24,30:-,NM_001009565.1(CDKL4) c.736-76_736-75insCA:-,NOT_FOUND:-,NOT_FOUND 2 39414851 . C . . NT END=39417445;NT GT ./. 2 39417644 . C . . NT END=39431667;NT GT ./. 2 39417839 rs2708223 A G 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1348,G/0.8652;Gene=CDKL4/NM_001009565.1/1;CC=c.455-196T>C;VC=Intron;DM=CDKL4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:228:26.14:0.00:26.14:1.00:0.00:1.00:60:74.6:0:0:118:33:14:NM_001009565.1(CDKL4) c.455-196T>C,NM_001009565.1(CDKL4) c.455-196T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 39417860 rs6544209 T C 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3265,C/0.6735;Gene=CDKL4/NM_001009565.1/1;CC=c.455-217A>G;VC=Intron;DM=CDKL4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:107:12.55:0.00:12.55:1.00:0.00:1.00:60:76.2:0:0:120:30:13:NM_001009565.1(CDKL4) c.455-217A>G,NM_001009565.1(CDKL4) c.455-217A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 39431759 . C . . NT END=39440540;NT GT ./. 2 39440614 . C . . NT END=39452979;NT GT ./. 2 39440727 rs10196407 G C 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3646,C/0.6354,T/.;Gene=CDKL4/NM_001009565.1/1;CC=c.291-114C>G;VC=Intron;DM=CDKL4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:C:12:1:0:0:12:316:37.14:3.68:33.46:1.00:1.00:1.00:60:43.7:0:0:81:65:31:NM_001009565.1(CDKL4) c.291-114C>G,NM_001009565.1(CDKL4) c.291-114C>G:0.69,0.69:NOT_FOUND,NOT_FOUND 2 39452861 rs11124663 C T 94 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3331,T/0.6669;Gene=CDKL4/NM_001009565.1/1;CC=c.290+119G>A;VC=Intron;DM=CDKL4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G,T:26:26:0:0:1,25:12,829:0.42,94.37:0.42,90.51:0.00,3.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:54.0,40.8:0,0:0,0:52,33:99,117:0,21:NM_001009565.1(CDKL4) c.290+119G>A,NM_001009565.1(CDKL4) c.290+119G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 39453102 . C . . NT END=39456505;NT GT ./. 2 39456674 . T . . NT END=39477758;NT GT ./. 2 39477847 . C . . NT END=39478970;NT GT ./. 2 39479027 . C . . NT END=39481590;NT GT ./. 2 39479122 rs3770678 G C 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.149,A/.,C/0.851;Gene=MAP4K3/NM_001270425.1/0;CC=c.2479-96C>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.2542-96C>G;VC=Intron;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:1:0:0:15:439:51.00:3.48:47.53:1.00:1.00:1.00:60:35.7:0:0:103:45:30:NM_003618.3(MAP4K3) c.2542-96C>G,NM_003618.3(MAP4K3) c.2542-96C>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 39481662 . C . . NT END=39485488;NT GT ./. 2 39485582 . C . . NT END=39485659;NT GT ./. 2 39485729 . C . . NT END=39487746;NT GT ./. 2 39487533 rs2178760 T C 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1448,C/0.8552;Gene=MAP4K3/NM_001270425.1/0;CC=c.2245+214A>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.2308+214A>G;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:200:23.30:23.30:0.00:1.00:1.00:0.00:60:46.9:0:0:83:65:25:NM_003618.3(MAP4K3) c.2308+214A>G,NM_003618.3(MAP4K3) c.2308+214A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 39487919 . C . . NT END=39492343;NT GT ./. 2 39492144 rs3755178 C A 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.154,A/0.846;Gene=MAP4K3/NM_001270425.1/0;CC=c.2073+200G>T;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.2136+200G>T;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:45.2:0:0:19:131:11:NM_003618.3(MAP4K3) c.2136+200G>T,NM_003618.3(MAP4K3) c.2136+200G>T:0.87,0.87:NOT_FOUND,NOT_FOUND 2 39492448 . C . . NT END=39494329;NT GT ./. 2 39494197 rs2302749 C T 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3728,T/0.6272;Gene=MAP4K3/NM_001270425.1/0;CC=c.1969+133G>A;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.2032+133G>A;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:15:0:0:16:520:59.63:55.85:3.78:1.00:1.00:1.00:60:41.0:0:0:61:87:35:NM_003618.3(MAP4K3) c.2032+133G>A,NM_003618.3(MAP4K3) c.2032+133G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 2 39494389 . C . . NT END=39499423;NT GT ./. 2 39494469 rs10865149 C G 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.151,G/0.849;PC=0.002;Gene=MAP4K3/NM_001270425.1/0;CC=c.1911-81G>C;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1974-81G>C;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:5:0:0:18:601:68.68:14.26:54.43:1.00:1.00:1.00:60:41.1:0:0:126:24:19:NM_003618.3(MAP4K3) c.1974-81G>C,NM_003618.3(MAP4K3) c.1974-81G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 39494566 rs11124669 C A 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3742,A/0.6258;Gene=MAP4K3/NM_001270425.1/0;CC=c.1911-178G>T;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1974-178G>T;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:283:32.59:0.00:32.59:1.00:0.00:1.00:60:139.3:0:0:52:98:20:NM_003618.3(MAP4K3) c.1974-178G>T,NM_003618.3(MAP4K3) c.1974-178G>T:0.65,0.65:NOT_FOUND,NOT_FOUND 2 39494596 rs11682362 A G 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3682,G/0.6318;Gene=MAP4K3/NM_001270425.1/0;CC=c.1911-208T>C;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1974-208T>C;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:257:29.49:0.00:29.49:1.00:0.00:1.00:60:148.4:0:0:80:70:18:NM_003618.3(MAP4K3) c.1974-208T>C,NM_003618.3(MAP4K3) c.1974-208T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 2 39494607 rs11677189 T C 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3684,C/0.6316;PC=0.023;Gene=MAP4K3/NM_001270425.1/0;CC=c.1911-219A>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1974-219A>G;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:258:29.57:0.00:29.57:1.00:0.00:1.00:60:148.4:0:0:91:59:18:NM_003618.3(MAP4K3) c.1974-219A>G,NM_003618.3(MAP4K3) c.1974-219A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 39494625 rs11124670 A C 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3722,C/0.6278;PC=0.016;Gene=MAP4K3/NM_001270425.1/0;CC=c.1911-237T>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1974-237T>G;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:269:30.72:0.00:30.72:1.00:0.00:1.00:60:148.4:0:0:109:41:18:NM_003618.3(MAP4K3) c.1974-237T>G,NM_003618.3(MAP4K3) c.1974-237T>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 39499542 . C . . NT END=39499622;NT GT ./. 2 39499684 . C . . NT END=39505547;NT GT ./. 2 39505300 rs13015356 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3716,G/0.6284;PC=0.005;Gene=MAP4K3/NM_001270425.1/0;CC=c.1731+248G>C;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1794+248G>C;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:142:16.11:16.11:0.00:1.00:1.00:0.00:60:88.2:0:0:55:94:14:NM_003618.3(MAP4K3) c.1794+248G>C,NM_003618.3(MAP4K3) c.1794+248G>C:0.66,0.66:NOT_FOUND,NOT_FOUND 2 39505303 rs62138511 C A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3716,A/0.6284;PC=0.013;Gene=MAP4K3/NM_001270425.1/0;CC=c.1731+245G>T;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1794+245G>T;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:88.2:0:0:58:91:14:NM_003618.3(MAP4K3) c.1794+245G>T,NM_003618.3(MAP4K3) c.1794+245G>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 39505306 rs13015357 C A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9062,A/0.09385;PC=0.055;Gene=MAP4K3/NM_001270425.1/0;CC=c.1731+242G>T;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1794+242G>T;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,C:4:4:0:0:3,1:81,33:8.53,0.00:8.53,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:94.3,70.0:0,0:0,0:52,70:96,81:28,0:NM_003618.3(MAP4K3) c.1794+242G>T,-:0.08,-:NOT_FOUND,- 2 39505516 . T TA 9 rn VT=INS;SST=Single;DP=26;NP=7;Gene=MAP4K3/NM_001270425.1/0;CC=c.1731+31_1731+32insT;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1794+31_1794+32insT;VC=Intron;DM=MAP4K3/CNH;DM=MAP4K3/CNH;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:T,TA:26:22:4:0:22,4:691,124:0.00,9.46:0.00,7.27:0.00,2.19:0.00,0.67:0.00,0.93:0.00,0.78:60,60:10.2,7.0:0,0:0,0:50,97:100,53:37,18:-,NM_003618.3(MAP4K3) c.1794+31_1794+32insT:-,NOT_FOUND:-,NOT_FOUND 2 39505628 . C . . NT END=39507412;NT GT ./. 2 39507417 rs3755176 T A 125 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.3728,A/0.6272;PC=0.999;Gene=MAP4K3/NM_001270425.1/0;CC=c.1647A>T;ProtCh=p.T549=;VC=Silent;Gene=MAP4K3/NM_003618.3/1;CC=c.1710A>T;ProtCh=p.T570=;VC=Silent;DM=MAP4K3/CNH;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:29:0:0:34:1092:125.30:85.86:39.44:1.00:1.00:1.00:60:37.3:0:0:41:103:20:NM_003618.3(MAP4K3) c.1710A>T (p.(=)),NM_003618.3(MAP4K3) c.1710A>T (p.(=)):0.68,0.68:0.665821,0.665821 2 39507498 . C . . NT END=39509653;NT GT ./. 2 39509363 rs6725790 G C 21 end,nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3299,C/0.6701;PC=0.004;Gene=MAP4K3/NM_001270425.1/0;CC=c.1566+291C>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1629+291C>G;VC=Intron;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:181:20.95:20.95:0.00:1.00:1.00:0.00:60:42.5:0:0:9:141:3:NM_003618.3(MAP4K3) c.1629+291C>G,NM_003618.3(MAP4K3) c.1629+291C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 39509696 . C . . NT END=39513992;NT GT ./. 2 39509921 rs12618944 G C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3746,C/0.6254;PC=0.350;Gene=MAP4K3/NM_001270425.1/0;CC=c.1525-226C>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1588-226C>G;VC=Intron;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:205:23.36:0.00:23.36:1.00:0.00:1.00:60:40.8:0:0:67:83:36:NM_003618.3(MAP4K3) c.1588-226C>G,NM_003618.3(MAP4K3) c.1588-226C>G:0.68,0.68:NOT_FOUND,NOT_FOUND 2 39514106 . C . . NT END=39515261;NT GT ./. 2 39514136 rs3755172 T C 113 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3724,C/0.6276;PC=0.044;Gene=MAP4K3/NM_001270425.1/0;CC=c.1412-31A>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1475-31A>G;VC=Intron;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:A,C:31:11:0:0:1,30:10,987:0.26,112.52:0.00,25.86:0.26,86.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:78.0,53.4:0,0:0,0:23,87:128,61:0,36:NM_003618.3(MAP4K3) c.1475-31A>G,NM_003618.3(MAP4K3) c.1475-31A>G:0.68,0.68:0.668308,0.668308 2 39514204 rs3755171 G C 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3746,C/0.6254;PC=0.033;Gene=MAP4K3/NM_001270425.1/0;CC=c.1412-99C>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1475-99C>G;VC=Intron;DM=MAP4K3/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:0:0:0:20:657:75.20:0.00:75.20:1.00:0.00:1.00:60:69.0:0:0:80:70:23:NM_003618.3(MAP4K3) c.1475-99C>G,NM_003618.3(MAP4K3) c.1475-99C>G:0.68,0.68:NOT_FOUND,NOT_FOUND 2 39515422 . C . . NT END=39517432;NT GT ./. 2 39517225 rs200698252 CAAAAAAAA C 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CAAAAAAAA/0.002796,C/0.9972;NP=35;PC=0.002;Gene=MAP4K3/NM_001270425.1/0;CC=c.1251+200_1251+207delTTTTTTTT;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1314+200_1314+207delTTTTTTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:4:0:4:3:133:11.06:11.06:0.00:0.85:0.85:0.00:60:8.3:1:0:33:117:10:NM_003618.3(MAP4K3) c.1314+200_1314+207delTTTTTTTT,NM_003618.3(MAP4K3) c.1314+200_1314+207delTTTTTTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 39517476 . C . . NT END=39519913;NT GT ./. 2 39519718 rs11124672 T C 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3379,C/0.6621;PC=0.002;Gene=MAP4K3/NM_001270425.1/0;CC=c.1208+196A>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1271+196A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:153:17.66:17.66:0.00:1.00:1.00:0.00:60:51.2:0:0:69:81:23:NM_003618.3(MAP4K3) c.1271+196A>G,NM_003618.3(MAP4K3) c.1271+196A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 39519968 . C . . NT END=39520370;NT GT ./. 2 39520410 . C . . NT END=39526883;NT GT ./. 2 39526842 rs2111382 A C 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.05252,C/0.9475;PC=0.016;Gene=MAP4K3/NM_001270425.1/0;CC=c.1115+42T>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.1178+42T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:16:0:0:18:616:70.18:52.49:17.70:1.00:1.00:1.00:60:37.2:1:0:34:112:18:NM_003618.3(MAP4K3) c.1178+42T>G,NM_003618.3(MAP4K3) c.1178+42T>G:0.96,0.96:0.956437,0.956437 2 39526943 . C . . NT END=39535083;NT GT ./. 2 39535147 . C . . NT END=39536601;NT GT ./. 2 39536661 . C . . NT END=39542450;NT GT ./. 2 39542530 . C . . NT END=39552658;NT GT ./. 2 39542658 rs5830562 AT A 29 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1095;PC=0.005;Gene=MAP4K3/NM_001270425.1/0;CC=c.919-130delA;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.919-130delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:AT,A:11:0:0:9:2,9:62,274:0.00,29.42:0.00,0.00:0.00,29.42:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,4.0:0,0:0,0:146,65:5,86:1,26:-,NM_003618.3(MAP4K3) c.919-130delA:-,NOT_FOUND:-,NOT_FOUND 2 39549733 rs368092389 A ATGTGTGTG 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1761,ATATG/.,ATGTGTGTG/0.8239;NP=1;NP=1;NP=18;NP=3;NP=7;NP=8;Gene=MAP4K3/NM_001270425.1/0;CC=c.918+2925_918+2926insCACACACA;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.918+2925_918+2926insCACACACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,ATGTGTGTG:4:3:4:0:1,3:34,129:0.00,10.47:0.00,1.63:0.00,8.84:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,46.3:0,1:0,0:122,50:22,97:0,6:-,NM_003618.3(MAP4K3) c.918+2925_918+2926insCACACACA:-,NOT_FOUND:-,NOT_FOUND 2 39549759 rs7567187 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2552,G/0.7448;PC=0.001;Gene=MAP4K3/NM_001270425.1/0;CC=c.918+2900T>C;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.918+2900T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:139:15.81:5.87:9.94:1.00:1.00:1.00:60:34.8:0:0:83:63:7:NM_003618.3(MAP4K3) c.918+2900T>C,NM_003618.3(MAP4K3) c.918+2900T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 39552770 . C . . NT END=39552870;NT GT ./. 2 39552953 . C . . NT END=39553039;NT GT ./. 2 39553103 . C . . NT END=39553286;NT GT ./. 2 39553271 rs3815594 A G 139 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.2244,G/0.7756;Gene=MAP4K3/NM_001270425.1/0;CC=c.662+16T>C;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.662+16T>C;VC=Intron;DM=MAP4K3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:32:0:0:37:1218:139.43:97.14:42.30:1.00:1.00:1.00:60:47.7:0:0:56:91:38:NM_003618.3(MAP4K3) c.662+16T>C,NM_003618.3(MAP4K3) c.662+16T>C:0.81,0.81:0.826542,0.826542 2 39553419 . C . . NT END=39559057;NT GT ./. 2 39558928 rs6760382 G A 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1556,A/0.8444;Gene=MAP4K3/NM_001270425.1/0;CC=c.530+130C>T;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.530+130C>T;VC=Intron;DM=MAP4K3/Pkinase;DM=MAP4K3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:319:36.67:36.67:0.00:1.00:1.00:0.00:60:33.8:0:0:75:75:36:NM_003618.3(MAP4K3) c.530+130C>T,NM_003618.3(MAP4K3) c.530+130C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 2 39559131 . C . . NT END=39560672;NT GT ./. 2 39560716 . C . . NT END=39564060;NT GT ./. 2 39561102 rs60361690 T TTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3918,TTG/.,TTGTG/0.6082,TTGTGTG/.;DB;DBA=NA;PAF=NA;NP=13;NP=2;NP=61;PC=0.432;Gene=MAP4K3/NM_001270425.1/0;CC=c.415-388_415-387insCA;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.415-388_415-387insCA;VC=Intron;DM=MAP4K3/Pkinase;DM=MAP4K3/Pkinase;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:T,TTG:3:4:3:0:1,2:34,96:0.00,6.65:0.00,6.65:0.00,-0.00:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,120.5:0,1:0,0:107,34:28,58:0,17:-,NM_003618.3(MAP4K3) c.415-388_415-387insCA:-,NOT_FOUND:-,NOT_FOUND 2 39564109 . C . . NT END=39564666;NT GT ./. 2 39564620 rs1125839 C A 104 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.1512,A/0.8488;Gene=MAP4K3/NM_001270425.1/0;CC=c.366+47G>T;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.366+47G>T;VC=Intron;DM=MAP4K3/Pkinase;DM=MAP4K3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:23:0:0:28:902:103.52:56.56:46.96:1.00:1.00:1.00:60:36.6:0:0:39:104:30:NM_003618.3(MAP4K3) c.366+47G>T,NM_003618.3(MAP4K3) c.366+47G>T:0.87,0.87:0.888453,0.888453 2 39564723 . C . . NT END=39570528;NT GT ./. 2 39570427 rs3732053 T C 73 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.3071,C/0.6929;PC=0.100;Gene=MAP4K3/NM_001270425.1/0;CC=c.310+102A>G;VC=Intron;Gene=MAP4K3/NM_003618.3/1;CC=c.310+102A>G;VC=Intron;DM=MAP4K3/Pkinase;DM=MAP4K3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:639:72.96:72.96:0.00:1.00:1.00:0.00:60:38.8:0:0:49:102:25:NM_003618.3(MAP4K3) c.310+102A>G,NM_003618.3(MAP4K3) c.310+102A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 39570594 . C . . NT END=39583389;NT GT ./. 2 39583446 rs8545 A G 156 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.3079,G/0.6921;PC=1.000;Gene=MAP4K3/NM_001270425.1/0;CC=c.189T>C;ProtCh=p.I63=;VC=Silent;Gene=MAP4K3/NM_003618.3/1;CC=c.189T>C;ProtCh=p.I63=;VC=Silent;DM=MAP4K3/Pkinase;DM=MAP4K3/Pkinase;DM=MAP4K3/Pkinase;DM=MAP4K3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:30:0:0:42:1357:155.62:73.38:82.24:1.00:1.00:1.00:60:37.2:0:0:76:67:20:NM_003618.3(MAP4K3) c.189T>C (p.(=)),NM_003618.3(MAP4K3) c.189T>C (p.(=)):0.74,0.74:0.734,0.734 2 39583481 . C . . NT END=39605206;NT GT ./. 2 39605265 . C . . NT END=39664032;NT GT ./. 2 39664129 . G . . NT END=39893114;NT GT ./. 2 39685609 rs560327176 TAC T 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=211;Gene=LOC728730/NR_037875.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:TAC,T:6:6:0:4:2,4:71,132:0.00,13.45:0.00,10.09:0.00,3.36:0.00,0.93:0.00,0.93:0.00,0.97:60,60:0.0,34.5:0,0:0,0:129,41:21,106:2,5:-,NR_037875.1(LOC728730) n.282+4104_282+4105delAC:-,NOT_FOUND:-,NOT_FOUND 2 39893515 . G . . NT END=39931220;NT GT ./. 2 39931335 . G . . NT END=39934188;NT GT ./. 2 39934327 . G . . NT END=39944149;NT GT ./. 2 39944392 . C . . NT END=39963874;NT GT ./. 2 39964200 . C . . NT END=39971509;NT GT ./. 2 39971619 . C . . NT END=39982434;NT GT ./. 2 39982550 . C . . NT END=39983028;NT GT ./. 2 39983101 . C . . NT END=39984485;NT GT ./. 2 39984509 . C . . NT END=39988470;NT GT ./. 2 39988559 . C . . NT END=39993196;NT GT ./. 2 39993250 . C . . NT END=39995563;NT GT ./. 2 39995642 . C . . NT END=39996040;NT GT ./. 2 39996234 . C . . NT END=39996849;NT GT ./. 2 39997260 . C . . NT END=39998644;NT GT ./. 2 39997455 rs917968 C T 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.02117,T/0.9788;Gene=THUMPD2/NM_025264.4/1;CC=c.263-196G>A;VC=Intron;Gene=THUMPD2/NR_028102.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:390:45.12:0.00:45.12:1.00:0.00:1.00:60:35.0:0:0:97:53:35:NM_025264.4(THUMPD2) c.263-196G>A,NM_025264.4(THUMPD2) c.263-196G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 39998781 . C . . NT END=40006253;NT GT ./. 2 40006380 . G . . NT END=40342392;NT GT ./. 2 40010736 rs11685661 C T 9 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=26;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:2:0:2:1,3:35,82:0.00,8.65:0.00,1.58:0.00,7.08:0.00,0.85:0.00,0.95:0.00,0.85:60,60:0.0,32.0:0,3:0,0:64,92:4,59:0,17:-,NM_025264.4(THUMPD2) c.-37-u4320G>A:-,NOT_FOUND:-,NOT_FOUND 2 40092703 rs13432836 G A 13 sb;idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6448,A/0.3552;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:1:4:114:13.27:11.73:1.54:1.00:1.00:1.00:70:51.2:4:0:56:80:34:chr2 g.40092702G>A (intergenic),chr2 g.40092702G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 40092707 rs58008657 GCGCA A,G 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=87;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:30:A,G:3:4:0:4:1,2:34,118:3.18,6.76:1.59,6.76:1.59,0.00:0.00,0.46:0.00,0.87:0.00,0.70:60,70:0.0,102.5:1,2:0,0:33,60:62,76:0,34:chr2 g.40092707_40092710delGCGC (intergenic),chr2 g.40092708_40092711delCGCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 40342770 . C . . NT END=40366540;NT GT ./. 2 40366817 . C . . NT END=40387904;NT GT ./. 2 40388005 . C . . NT END=40391993;NT GT ./. 2 40391789 rs1005213 G T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5537,A/.,T/0.4463;PC=0.006;Gene=SLC8A1-AS1/NR_038441.1/0;VC=NonCoding;Gene=SLC8A1/NM_001112800.1/0;CC=c.2154+205C>A;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.2130+205C>A;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.2145+205C>A;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.2169+205C>A;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.2061+205C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:40.8:0:0:52:98:22:NM_021097.2(SLC8A1) c.2169+205C>A,NM_021097.2(SLC8A1) c.2169+205C>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 40392125 . C . . NT END=40397420;NT GT ./. 2 40392313 rs434725 G C 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.08187,C/0.9181;Gene=SLC8A1-AS1/NR_038441.1/0;VC=NonCoding;Gene=SLC8A1/NM_001112800.1/0;CC=c.2024-189C>G;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.2000-189C>G;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.2015-189C>G;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.2039-189C>G;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.1931-189C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:434:49.60:0.00:49.60:1.00:0.00:1.00:60:37.2:0:0:118:33:27:NM_021097.2(SLC8A1) c.2039-189C>G,NM_021097.2(SLC8A1) c.2039-189C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 40397490 . C . . NT END=40401845;NT GT ./. 2 40401861 . C . . NT END=40401964;NT GT ./. 2 40401983 . C . . NT END=40402400;NT GT ./. 2 40402275 rs6734847 G A 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4868,A/0.5132;PC=0.001;Gene=SLC8A1-AS1/NR_038441.1/0;VC=NonCoding;Gene=SLC8A1/NM_001112800.1/0;CC=c.1936+126C>T;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.1913-293C>T;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.1913-293C>T;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.1936+126C>T;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.1913-293C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:10:0:0:13:420:48.20:34.93:13.27:1.00:1.00:1.00:60:49.2:0:0:30:121:14:NM_021097.2(SLC8A1) c.1936+126C>T,NM_021097.2(SLC8A1) c.1936+126C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 2 40402422 . C . . NT END=40404891;NT GT ./. 2 40404839 rs433572 C T 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.503,T/0.497;PC=0.991;Gene=SLC8A1-AS1/NR_038441.1/0;VC=NonCoding;Gene=SLC8A1/NM_001112800.1/0;CC=c.1915+688G>A;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.1912+53G>A;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.1912+53G>A;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.1915+688G>A;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.1912+53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:13:0:0:14:434:50.06:42.38:7.67:1.00:1.00:1.00:60:40.6:0:0:23:127:15:NM_021097.2(SLC8A1) c.1915+688G>A,NM_021097.2(SLC8A1) c.1915+688G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 2 40404996 . C . . NT END=40405526;NT GT ./. 2 40405196 rs11686356 G A 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9796,A/0.02037;Gene=SLC8A1-AS1/NR_038441.1/0;VC=NonCoding;Gene=SLC8A1/NM_001112800.1/0;CC=c.1915+331C>T;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.1809-201C>T;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.1809-201C>T;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.1915+331C>T;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.1809-201C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:7:2:0:0:4,3:120,93:11.83,0.00:2.06,0.00:9.77,0.00:0.90,0.00:0.85,0.00:0.98,0.00:60,60:45.0,0.0:0,0:0,0:97,79:53,70:20,8:NM_021097.2(SLC8A1) c.1915+331C>T,-:0.03,-:NOT_FOUND,- 2 40405634 . C . . NT END=40655612;NT GT ./. 2 40534312 rs201948834 A C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;Gene=SLC8A1/NM_001112800.1/0;CC=c.1808+121301T>G;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.1808+121301T>G;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.1808+121301T>G;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.1808+121301T>G;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.1808+121301T>G;VC=Intron;DM=SLC8A1/Calx-beta;DM=SLC8A1/Calx-beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:4:4:0:0:2,2:67,66:0.00,6.35:0.00,6.65:0.00,-0.30:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,63.0:0,0:0,0:31,139:87,11:6,6:-,NM_021097.2(SLC8A1) c.1808+121301T>G:-,NOT_FOUND:-,NOT_FOUND 2 40549961 rs5830620 AACAC A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AACAC/0.7458,A/0.2542;NP=97;Gene=SLC8A1/NM_001112800.1/0;CC=c.1808+105648_1808+105651delGTGT;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.1808+105648_1808+105651delGTGT;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.1808+105648_1808+105651delGTGT;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.1808+105648_1808+105651delGTGT;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.1808+105648_1808+105651delGTGT;VC=Intron;DM=SLC8A1/Calx-beta;DM=SLC8A1/Calx-beta;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AACAC,A:4:4:0:2:2,2:67,67:0.00,6.45:0.00,5.01:0.00,1.44:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,0.0:0,0:0,0:134,75:16,46:2,18:-,NM_021097.2(SLC8A1) c.1808+105648_1808+105651delGTGT:-,NOT_FOUND:-,NOT_FOUND 2 40655563 rs200981654 CCA C 299 idl,rn VT=DEL;SST=Single;DP=129;DB;DBA=NA;PAF=NA;NP=74;PC=0.089;Gene=SLC8A1/NM_001112800.1/0;CC=c.1808+48_1808+49delTG;VC=Intron;Gene=SLC8A1/NM_001112801.1/0;CC=c.1808+48_1808+49delTG;VC=Intron;Gene=SLC8A1/NM_001252624.1/0;CC=c.1808+48_1808+49delTG;VC=Intron;Gene=SLC8A1/NM_021097.2/1;CC=c.1808+48_1808+49delTG;VC=Intron;Gene=SLC8A1/NM_001112802.1/0;CC=c.1808+48_1808+49delTG;VC=Intron;DM=SLC8A1/Calx-beta;DM=SLC8A1/Calx-beta;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CCA,T,C:105:109:0:113:1,15,1,88:32,491,10,3469:1.54,0.00,0.03,299.32:1.55,0.00,0.04,219.57:-0.01,0.00,-0.01,79.75:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:94.0,3.3,21.0,11.6:0,0,0,24:0,0,0,0:0,135,129,52:151,16,22,97:0,9,0,27:-,NM_021097.2(SLC8A1) c.1808+48_1808+49delTG:-,NOT_FOUND:-,NOT_FOUND 2 40657445 . C . . NT END=42165742;NT GT ./. 2 40691037 rs13406064 T G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6082,G/0.3918;NP=41;NP=511;PC=0.001;Gene=SLC8A1/NM_001112802.1/0;CC=c.-24-33593A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:G,T:5:4:0:0:3,2:106,66:10.57,0.00:5.33,0.00:5.23,0.00:0.78,0.00:0.97,0.00:0.97,0.00:60,60:89.0,52.5:0,0:0,0:60,60:84,90:22,53:NM_001112802.1(SLC8A1) c.-24-33593A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 40773517 rs76022733 T TAC 6 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;NP=25;NP=3;NP=4;NP=42;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:T,TAC,D:5:5:3:1:2,2,1:59,100,28:0.00,6.35,2.34:0.00,3.17,1.17:0.00,3.17,1.17:0.00,0.89,0.00:0.00,0.86,0.00:0.00,0.81,0.00:60,60,60:24.5,23.0,22.0:0,1,0:0,0,0:61,54,58:88,93,83:32,21,0:-,chr2 g.40773517_40773518insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 40923772 rs61547176 T A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=118 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,T:4:2:0:0:3,1:102,10:10.70,0.00:3.85,0.00:6.85,0.00:0.85,0.00:0.95,0.00:0.85,0.00:60,52:107.7,10.0:0,0:0,0:62,38:57,91:16,0:chr2 g.40923771T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 41384390 rs2113376 G A 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.3435,A/0.6565;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:19:0:0:14,13:470,399:45.58,0.00:29.39,0.00:16.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,5.2:0,0:0,0:34,38:115,113:26,19:chr2 g.41384389G>A (intergenic),-:0.61,-:NOT_FOUND,- 2 41981165 rs13401353 C T 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6731,T/0.3269;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:5:5:0:0:1,4:33,136:0.00,14.42:0.00,11.19:0.00,3.23:0.00,0.96:0.00,0.96:0.00,0.99:60,60:0.0,34.0:0,0:0,0:57,74:92,56:0,28:-,chr2 g.41981164C>T (intergenic):-,0.29:-,NOT_FOUND 2 42047732 rs142631711 G C 10 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9978,C/0.002196;NP=48;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:7:3:0:0:4,3:98,104:9.61,0.00:0.68,0.00:8.93,0.00:0.90,0.00:0.93,0.00:0.97,0.00:60,60:81.5,0.0:0,0:0,0:133,135:17,15:8,15:chr2 g.42047731G>C (intergenic),-:0.0027,-:NOT_FOUND,- 2 42077586 rs12994523 C A 74 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.6512,A/0.3488;PC=0.976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:42:28:0:0:23,19:754,596:73.81,0.00:32.66,0.00:41.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.7,11.5:0,0:0,0:69,90:82,60:43,38:chr2 g.42077585C>A (intergenic),-:0.33,-:NOT_FOUND,- 2 42077657 rs10180866 T C 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.6496,C/0.3504;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:19:0:0:21,17:660,540:64.68,0.00:25.18,0.00:39.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.4,4.3:0,0:0,0:90,75:61,73:39,25:chr2 g.42077656T>C (intergenic),-:0.34,-:NOT_FOUND,- 2 42077788 rs10181062 T C 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6538,C/0.3462;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:0:0:0:6,8:208,262:19.51,0.00:0.00,0.00:19.51,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:40.0,7.1:0,0:0,0:109,120:41,31:9,8:chr2 g.42077787T>C (intergenic),-:0.33,-:NOT_FOUND,- 2 42165754 . C . . NT END=42180127;NT GT ./. 2 42180436 . G . . NT END=42275339;NT GT ./. 2 42242155 rs192015990 T C 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7574,C/0.2426 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:11:8:0:0:7,4:220,139:22.21,0.00:9.81,0.00:12.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.0,21.2:0,0:0,0:66,73:45,55:18,9:chr2 g.42242154T>C (intergenic),-:0.21,-:NOT_FOUND,- 2 42242206 rs80092404 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5298,G/0.4702 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:6:4:0:0:3,3:86,101:0.00,9.73:0.00,4.56:0.00,5.16:0.00,0.73:0.00,0.51:0.00,0.51:60,60:29.3,116.0:0,0:0,0:118,99:10,51:7,1:-,chr2 g.42242205A>G (intergenic):-,0.41:-,NOT_FOUND 2 42275063 . T TGGAGGCGGAGGCGGAGGCGGCGGA 12 nt VT=INS;SST=Single;DP=5;NP=1;NP=3;PC=0.928;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TGGAGGCGGAGGCGGAGGCGGCGGA:5:4:4:0:1,4:33,113:0.00,12.12:0.00,12.82:0.00,-0.70:0.00,0.96:0.00,1.00:0.00,0.87:60,70:16.0,27.0:0,0:0,0:107,61:12,90:0,16:-,NM_138370.2(PKDCC) c.-179-u98_-179-u97insGGAGGCGGAGGCGGAGGCGGCGGA:-,NOT_FOUND:-,NOT_FOUND 2 42275245 rs182284067 G A 204 nt VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.9227,A/0.07728;PC=0.886;Gene=PKDCC/NM_138370.2/1;CC=c.-95G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:118:116:0:0:64,54:2085,1589:203.76,0.00:151.43,0.00:52.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,15.6:0,0:0,0:44,30:105,120:31,19:NM_138370.2(PKDCC) c.-95G>A,-:0.1,-:NOT_FOUND,- 2 42275726 rs11891679 C G 167 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.7568,G/0.2432;PC=0.927;Gene=PKDCC/NM_138370.2/1;CC=c.387C>G;ProtCh=p.R129=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:114:107:0:0:58,56:1932,1742:0.00,166.53:0.00,126.91:0.00,39.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,59.4:0,0:0,0:45,39:96,106:24,31:-,NM_138370.2(PKDCC) c.387C>G (p.(=)):-,0.24:-,NOT_FOUND 2 42275819 rs11897440 T C 275 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=T/0.4014,C/0.5986;PC=0.998;Gene=PKDCC/NM_138370.2/1;CC=c.480T>C;ProtCh=p.G160=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:172:151:0:0:87,85:2857,2713:275.34,0.00:172.41,0.00:102.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.5,8.8:0,0:0,0:62,47:89,101:40,28:NM_138370.2(PKDCC) c.480T>C (p.(=)),-:0.55,-:0.52973,- 2 42275979 . G . . NT END=42280378;NT GT ./. 2 42280300 rs34482969 G A 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7508,A/0.2492,T/.;PC=0.534;Gene=PKDCC/NM_138370.2/1;CC=c.640-79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,G:14:11:0:0:4,10:134,302:11.68,0.00:6.86,0.00:4.81,0.00:0.77,0.00:0.95,0.00:0.85,0.00:60,60:71.5,37.1:0,0:0,0:42,78:108,66:9,20:NM_138370.2(PKDCC) c.640-79G>A,-:0.23,-:NOT_FOUND,- 2 42280358 rs35771566 C T 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.7508,T/0.2492;PC=0.965;Gene=PKDCC/NM_138370.2/1;CC=c.640-21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:16:0:0:14,12:377,366:0.00,34.52:0.00,15.81:0.00,18.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,64.2:0,0:0,0:43,31:103,95:34,24:-,NM_138370.2(PKDCC) c.640-21C>T:-,0.23:-,0.284715 2 42280502 . G . . NT END=42281175;NT GT ./. 2 42280854 rs13419617 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7169,T/0.2831;Gene=PKDCC/NM_138370.2/1;CC=c.763-322C>T;VC=Intron;DM=PKDCC/PIP49_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:5:4:0:0:2,3:65,91:0.00,9.07:0.00,5.41:0.00,3.65:0.00,0.78:0.00,0.97:0.00,0.73:60,60:0.0,67.3:0,0:0,0:25,49:124,102:11,21:-,NM_138370.2(PKDCC) c.763-322C>T:-,0.26:-,NOT_FOUND 2 42280927 rs13419707 C T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.752,T/0.248;Gene=PKDCC/NM_138370.2/1;CC=c.763-249C>T;VC=Intron;DM=PKDCC/PIP49_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:7:7:0:0:4,3:132,83:0.00,7.64:0.00,7.64:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:12.0,84.7:0,0:0,0:53,101:91,50:38,21:-,NM_138370.2(PKDCC) c.763-249C>T:-,0.23:-,NOT_FOUND 2 42281448 . G . . NT END=42282080;NT GT ./. 2 42281656 rs72794538 G T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9233,T/0.07668;PC=0.380;Gene=PKDCC/NM_138370.2/1;CC=c.1034+209G>T;VC=Intron;DM=PKDCC/PIP49_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:G,T:10:0:0:0:4,6:116,207:0.00,20.64:0.00,0.00:0.00,20.64:0.00,0.99:0.00,0.00:0.00,0.99:60,60:25.8,35.8:0,0:0,0:88,110:62,40:27,20:-,NM_138370.2(PKDCC) c.1034+209G>T:-,0.09:-,NOT_FOUND 2 42282161 . G . . NT END=42282425;NT GT ./. 2 42282534 . G . . NT END=42284360;NT GT ./. 2 42282632 rs13401037 A T 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7159,T/0.2841;Gene=PKDCC/NM_138370.2/1;CC=c.1222+99A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:21:0:0:0:10,1,10:302,10,297:0.00,0.14,28.43:0.00,0.00,0.00:0.00,0.14,28.43:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:25.5,22.0,38.3:0,0,0:0,0,0:96,41,86:54,110,65:34,0,26:-,NM_138370.2(PKDCC) c.1222+99A>T:-,0.26:-,NOT_FOUND 2 42284535 . G . . NT END=42284742;NT GT ./. 2 42284829 . C . . NT END=42396751;NT GT ./. 2 42379500 rs372973298 TGCGC T 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=19;PC=0.001;Gene=LOC102723824/NR_110584.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:TGCGC,T:6:4:0:3:3,3:99,97:0.00,9.32:0.00,2.82:0.00,6.50:0.00,0.73:0.00,0.51:0.00,0.89:60,60:4.3,66.7:0,0:0,0:27,77:101,71:22,6:-,chr2 g.42379501_42379504delGCGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 42379513 rs62144709 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5589,A/0.4411;NP=85;Gene=LOC102723824/NR_110584.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:6:4:0:0:3,3:100,102:9.62,0.00:3.07,0.00:6.55,0.00:0.73,0.00:0.51,0.00:0.51,0.00:60,60:66.7,4.3:3,3:0,0:86,13:62,138:6,2:chr2 g.42379512G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 42379515 . GCACACA A,G 11 nt VT=DEL;SST=Single;DP=6;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:99:A,G:6:4:0:3:3,3:100,100:10.53,10.53:3.68,7.00:6.85,3.53:0.00,0.73:0.00,0.51:0.00,0.51:60,60:66.7,4.3:0,0:0,0:88,15:60,136:6,2:chr2 g.42379515_42379520delGCACAC (intergenic),chr2 g.42379516_42379521delCACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 42396722 rs7233 A G 152 nt VT=SNV;PN=T;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.3011,G/0.6989;PC=1.000;Gene=LOC102723824/NR_110584.1/0;VC=NonCoding;Gene=EML4/NM_001145076.2/0;CC=c.-30A>G;VC=5UTR;Gene=EML4/NM_019063.4/1;CC=c.-30A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:101:78:0:0:53,48:1619,1593:0.00,151.86:0.00,102.00:0.00,49.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,47.3:0,0:0,0:44,48:96,97:22,27:-,NM_019063.3(EML4) c.-30A>G:-,0.64:-,0.707596 2 42396777 . G . . NT END=42472644;NT GT ./. 2 42472828 . G . . NT END=42483640;NT GT ./. 2 42483771 . G . . NT END=42488260;NT GT ./. 2 42488198 rs2302345 A G 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.7302,G/0.2698;Gene=EML4/NM_001145076.2/0;CC=c.339-2120A>G;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.339-63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:33:0:0:14,19:421,584:0.00,57.66:0.00,50.98:0.00,6.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,39.8:0,0:0,0:72,60:69,90:41,38:-,NM_019063.3(EML4) c.339-63A>G:-,0.33:-,NOT_FOUND 2 42488435 . G . . NT END=42490317;NT GT ./. 2 42490447 . G . . NT END=42491845;NT GT ./. 2 42490538 rs67401314 CTT C 8 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.011;Gene=EML4/NM_001145076.2/0;CC=c.467+116_467+117delTT;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.641+116_641+117delTT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:CTT,I,C:19:6:1:10:14,1,4:402,26,209:0.00,1.45,8.32:0.00,-0.10,-0.42:0.00,1.55,8.73:0.00,0.00,0.69:0.00,0.00,0.66:0.00,0.00,0.94:60,60,60:18.9,0.0,88.2:0,0,4:0,0,0:139,19,67:11,131,79:9,0,28:-,NM_019063.3(EML4) c.641+93_641+94delTT:-,NOT_FOUND:-,NOT_FOUND 2 42490630 rs13429735 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.376,C/0.624;Gene=EML4/NM_001145076.2/0;CC=c.467+184T>C;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.641+184T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:0:0:0:7,7:215,213:20.63,0.00:0.00,0.00:20.63,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.7,9.7:0,0:0,0:76,88:74,62:22,29:NM_019063.3(EML4) c.641+184T>C,-:0.65,-:NOT_FOUND,- 2 42491751 rs35132936 C T 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.7542,T/0.2458;PC=0.004;Gene=EML4/NM_001145076.2/0;CC=c.468-95C>T;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.642-95C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:23:0:0:10,15:309,513:0.00,51.16:0.00,44.73:0.00,6.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,34.2:0,0:0,0:31,56:118,93:12,21:-,NM_019063.3(EML4) c.642-95C>T:-,0.31:-,NOT_FOUND 2 42491872 . G . . NT END=42492058;NT GT ./. 2 42492092 . G . . NT END=42507989;NT GT ./. 2 42492191 rs13016514 A C 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.754,C/0.246;Gene=EML4/NM_001145076.2/0;CC=c.493+320A>C;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.667+320A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:34:7:0:0:19,15:582,508:0.00,47.83:0.00,4.80:0.00,43.03:0.00,1.00:0.00,0.97:0.00,1.00:60,60:9.8,39.2:0,0:0,0:93,118:58,33:36,13:-,NM_019063.3(EML4) c.667+320A>C:-,0.31:-,NOT_FOUND 2 42508114 . G . . NT END=42509962;NT GT ./. 2 42508204 . CA C 7 rn VT=DEL;SST=Single;DP=30;NP=15;PC=0.001;Gene=EML4/NM_001145076.2/0;CC=c.617+102delA;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.791+102delA;VC=Intron;DM=EML4/HELP;DM=EML4/HELP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,CA,I,C:29:6:1:4:1,24,1,3:10,672,23,128:-0.08,0.00,0.97,6.84:-0.03,0.00,0.63,1.30:-0.05,0.00,0.34,5.54:0.00,0.00,0.00,0.43:0.00,0.00,0.00,0.45:0.00,0.00,0.00,0.43:60,60,60,60:34.0,12.2,22.0,0.0:0,0,0,1:0,0,0,0:48,104,73,67:102,44,78,82:0,26,0,51:-,NM_019063.3(EML4) c.791+92delA:-,NOT_FOUND:-,NOT_FOUND 2 42508359 rs112828938 C G 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6595,G/0.3405;Gene=EML4/NM_001145076.2/0;CC=c.617+246C>G;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.791+246C>G;VC=Intron;DM=EML4/HELP;DM=EML4/HELP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:6:0:0:0:3,3:96,67:0.00,6.30:0.00,0.00:0.00,6.30:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,70.3:0,0:0,0:140,57:11,89:7,42:-,NM_019063.3(EML4) c.791+246C>G:-,0.39:-,NOT_FOUND 2 42509829 rs6723361 T C 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6563,C/0.3437;PC=0.002;Gene=EML4/NM_001145076.2/0;CC=c.618-134T>C;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.792-134T>C;VC=Intron;DM=EML4/HELP;DM=EML4/HELP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,T:13:13:0:0:9,4:293,131:30.07,0.00:30.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.2,0.0:0,0:0,0:51,67:100,84:10,19:NM_019063.3(EML4) c.792-134T>C,-:0.39,-:NOT_FOUND,- 2 42510018 rs6736913 A G 189 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.003794,G/0.9962;PC=1.000;Gene=EML4/NM_001145076.2/0;CC=c.673A>G;ProtCh=p.K225E;VC=Missense;Gene=EML4/NM_019063.4/1;CC=c.847A>G;ProtCh=p.K283E;VC=Missense;DM=EML4/HELP;DM=EML4/HELP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:G:53:40:0:0:53:1639:188.99:109.20:79.80:1.00:1.00:1.00:60:36.7:0:0:63:88:31:NM_019063.3(EML4) c.=,NM_019063.3(EML4) c.=:0.99,0.99:0.987621,0.987621 2 42510113 . G . . NT END=42511773;NT GT ./. 2 42511627 rs2286704 T G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7177,G/0.2823;PC=0.078;Gene=EML4/NM_001145076.2/0;CC=c.768-147T>G;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.942-147T>G;VC=Intron;DM=EML4/WD40;DM=EML4/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:G,T:10:10:0:0:7,3:220,99:22.68,0.00:22.68,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.1,4.0:0,0:0,0:65,101:86,49:46,15:NM_019063.3(EML4) c.942-147T>G,-:0.33,-:NOT_FOUND,- 2 42511844 . G . . NT END=42513408;NT GT ./. 2 42511903 rs6744779 A G 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.7129,G/0.2871;Gene=EML4/NM_001145076.2/0;CC=c.837+60A>G;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.1011+60A>G;VC=Intron;DM=EML4/WD40;DM=EML4/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:3:0:0:9,15:272,465:0.00,46.78:0.00,3.71:0.00,43.07:0.00,1.00:0.00,0.95:0.00,1.00:60,60:1.1,41.4:0,0:0,0:113,119:38,32:22,8:-,NM_019063.3(EML4) c.1011+60A>G:-,0.34:-,0.268068 2 42513520 . G . . NT END=42515366;NT GT ./. 2 42513659 rs3732195 C G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4129,G/0.5871;PC=0.001;Gene=EML4/NM_001145076.2/0;CC=c.948+140C>G;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.1122+140C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,G:8:0:0:0:3,5:104,152:0.00,15.27:0.00,0.00:0.00,15.27:0.00,0.97:0.00,0.00:0.00,0.97:60,60:36.3,41.0:0,0:0,0:130,80:21,71:9,31:-,NM_019063.3(EML4) c.1122+140C>G:-,0.62:-,NOT_FOUND 2 42515388 rs10202624 A G 71 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.1464,G/0.8536;PC=1.000;Gene=EML4/NM_001145076.2/0;CC=c.970A>G;ProtCh=p.I324V;VC=Missense;Gene=EML4/NM_019063.4/1;CC=c.1144A>G;ProtCh=p.I382V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:14:0:0:18:621:70.68:39.17:31.52:1.00:1.00:1.00:60:49.9:0:0:57:93:24:NM_019063.3(EML4) c.=,NM_019063.3(EML4) c.=:0.85,0.85:0.917333,0.917333 2 42515437 rs28651764 A G 38 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7274,G/0.2726;PC=1.000;Gene=EML4/NM_001145076.2/0;CC=c.1019A>G;ProtCh=p.K340R;VC=Missense;Gene=EML4/NM_019063.4/1;CC=c.1193A>G;ProtCh=p.K398R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:11:0:0:7,11:242,376:0.00,37.62:0.00,15.70:0.00,21.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.7,61.0:0,0:0,0:87,83:63,67:24,43:-,NM_019063.3(EML4) c.1193A>G (p.Lys398Arg):-,0.33:-,0.262494 2 42515463 . G . . NT END=42522264;NT GT ./. 2 42515670 rs13017804 A C 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6597,C/0.3403;Gene=EML4/NM_001145076.2/0;CC=c.1044+208A>C;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.1218+208A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,C:4:0:0:0:1,3:27,104:0.00,10.85:0.00,0.00:0.00,10.85:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,78.7:0,0:0,0:87,103:64,48:0,10:-,NM_019063.3(EML4) c.1218+208A>C:-,0.39:-,NOT_FOUND 2 42522400 . G . . NT END=42522520;NT GT ./. 2 42522657 . G . . NT END=42528380;NT GT ./. 2 42522756 rs10490555 A G 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.7562,G/0.2438,T/.;Gene=EML4/NM_001145076.2/0;CC=c.1315+100A>G;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.1489+100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:1:0:0:11,15:351,503:0.00,49.76:0.00,-0.19:0.00,49.95:0.00,1.00:0.00,0.72:0.00,1.00:60,60:9.7,35.1:0,0:0,0:90,81:60,69:24,29:-,NM_019063.3(EML4) c.1489+100A>G:-,0.3:-,NOT_FOUND 2 42528533 . G . . NT END=42530243;NT GT ./. 2 42530370 . G . . NT END=42530454;NT GT ./. 2 42530587 . G . . NT END=42531623;NT GT ./. 2 42531692 . G . . NT END=42543101;NT GT ./. 2 42543191 . G . . NT END=42544566;NT GT ./. 2 42544665 . G . . NT END=42552606;NT GT ./. 2 42552695 . G . . NT END=42553184;NT GT ./. 2 42553284 . A . . NT END=42553293;NT GT ./. 2 42553393 . G . . NT END=42556025;NT GT ./. 2 42553578 rs11682029 A C 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3958,C/0.6042;Gene=EML4/NM_001145076.2/0;CC=c.2167+186A>C;VC=Intron;Gene=EML4/NM_019063.4/1;CC=c.2341+186A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,C:7:0:0:0:3,4:97,113:0.00,11.10:0.00,0.00:0.00,11.10:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,44.0:0,0:0,0:130,74:20,76:5,34:-,NM_019063.3(EML4) c.2341+186A>C:-,0.64:-,NOT_FOUND 2 42556157 . G . . NT END=42556873;NT GT ./. 2 42557348 . C . . NT END=42578358;NT GT ./. 2 42578149 rs8162 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5559,G/0.4441;Gene=COX7A2L/NM_004718.2/1;CC=c.*210T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:16:0:0:8,8:247,223:0.00,21.29:0.00,21.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.1,53.5:0,0:0,0:48,87:103,59:29,19:-,NM_004718.2(COX7A2L) c.*210T>C:-,0.51:-,NOT_FOUND 2 42578274 rs568475280 T TA 6 rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=20;PC=0.008;Gene=COX7A2L/NM_004718.2/1;CC=c.*84_*85insT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,T,TA,D:42:38:3:3:1,35,3,3:29,1036,96,81:1.40,0.00,6.47,5.01:-0.31,0.00,6.65,5.18:1.71,0.00,-0.18,-0.18:0.00,0.00,0.36,0.00:0.00,0.00,0.83,0.00:0.00,0.00,0.43,0.00:60,60,60,60:66.0,10.6,0.0,50.0:0,0,0,0:0,0,0,0:23,32,26,46:127,119,125,97:0,24,17,29:-,NM_004718.2(COX7A2L) c.*84dupT:-,NOT_FOUND:-,NOT_FOUND 2 42578500 . C . . NT END=42580351;NT GT ./. 2 42580484 . C . . NT END=42588229;NT GT ./. 2 42588195 rs3764906 T C 90 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.7234,C/0.2766;Gene=COX7A2L/NM_004718.2/1;CC=c.72+35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:63:52:0:0:1,30,32:13,948,1075:0.05,90.43,0.00:0.13,57.68,0.00:-0.07,32.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:27.0,44.0,3.1:0,0,0:0,0,0:0,36,47:151,115,99:0,17,37:NM_004718.2(COX7A2L) c.72+35A>G,-:0.34,-:0.272685,- 2 42588302 . G . . NT END=42671073;NT GT ./. 2 42671720 . C . . NT END=42719976;NT GT ./. 2 42679910 rs70963315 G GGT 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5329,GGT/.,GGTGT/0.4671;DB;DBA=NA;PAF=NA;NP=76;NP=91;PC=0.049;Gene=KCNG3/NM_133329.5/0;CC=c.666-8192_666-8191insAC;VC=Intron;Gene=KCNG3/NM_172344.2/1;CC=c.633-8192_633-8191insAC;VC=Intron;DM=KCNG3/Ion_trans;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GGT:4:5:5:0:4:153:13.52:9.84:3.68:0.96:0.96:0.97:60:15.8:1:0:65:86:24:NM_133329.5(KCNG3) c.666-8192_666-8191insAC,NM_133329.5(KCNG3) c.666-8192_666-8191insAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 42698326 rs11124880 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2949,G/0.7051;NP=557;Gene=KCNG3/NM_133329.5/0;CC=c.665+21651T>C;VC=Intron;Gene=KCNG3/NM_172344.2/1;CC=c.632+21684T>C;VC=Intron;DM=KCNG3/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,G:8:4:0:0:1,7:33,214:0.00,23.43:0.00,6.49:0.00,16.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,55.6:0,0:0,0:39,84:103,36:0,45:-,NM_133329.5(KCNG3) c.665+21651T>C:-,NOT_FOUND:-,NOT_FOUND 2 42719847 rs386390058 T G,TG 59 idl;end,nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.002396,TG/0.9976;DB;DBA=NA;PAF=T/0.002396,TG/0.9976;DB;DBA=NA;PAF=T/0.002396,TG/0.9976;NP=26;DM=KCNG3/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:20:G,TG:19:19:17:0:2,17:61,514:5.10,58.68:5.10,58.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.5,11.4:0,0:0,0:0,69:151,82:0,33:NM_133329.5(KCNG3) c.665+130A>C,NM_133329.5(KCNG3) c.665+129_665+130insC:NOT_FOUND,1:NOT_FOUND,NOT_FOUND 2 42719860 rs386390060 G GC 78 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.002396,GC/0.9976,GGC/.;DB;DBA=NA;PAF=G/0.002396,GC/0.9976;NP=42;Gene=KCNG3/NM_133329.5/0;CC=c.665+116dupG;VC=Intron;Gene=KCNG3/NM_172344.2/1;CC=c.632+149dupG;VC=Intron;DM=KCNG3/Ion_trans;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:C,GC:23:23:22:0:1,22:10,676:0.33,77.66:0.33,77.66:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:66.0,9.1:1,0:0,0:53,42:98,88:0,40:NM_133329.5(KCNG3) c.665+116_665+117insG,NM_133329.5(KCNG3) c.665+116_665+117insG:1,1:NOT_FOUND,NOT_FOUND 2 42720642 . G . . NT END=42795885;NT GT ./. 2 42795716 rs77161047 A C 76 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=320;PC=0.004;Gene=MTA3/NM_001282755.1/1;CC=c.-140-1861A>C;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.-141+350A>C;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.-170A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:19:0:0:21:664:76.40:69.04:7.35:1.00:1.00:1.00:60:129.4:0:0:60:87:24:NM_020744.2(MTA3) c.-167C>A,NM_020744.2(MTA3) c.-167C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 42795719 rs62142669 A C 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.006;Gene=MTA3/NM_001282755.1/1;CC=c.-140-1858A>C;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.-141+353A>C;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.-167A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:19:0:0:21:681:78.11:69.96:8.15:1.00:1.00:1.00:60:129.4:0:0:63:84:24:NM_020744.2(MTA3) c.-170C>A,NM_020744.2(MTA3) c.-170C>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 42795727 rs62142670 T C 94 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=327;PC=0.001;Gene=MTA3/NM_001282755.1/1;CC=c.-140-1850T>C;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.-141+361T>C;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.-159T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:25:0:0:27:817:94.48:88.23:6.25:1.00:1.00:1.00:60:115.7:0:0:60:91:30:NM_020744.2(MTA3) c.=,NM_020744.2(MTA3) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 42795914 . G . . NT END=42797576;NT GT ./. 2 42795954 rs78106475 T C 403 nt VT=SNV;PN=G;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=42;PC=0.166;Gene=MTA3/NM_001282755.1/1;CC=c.-140-1623T>C;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.-141+588T>C;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.28+41T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:112:66:0:0:1,111:10,3505:0.09,402.66:0.09,141.36:0.00,261.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:164.0,43.3:0,0:0,0:88,102:41,39:0,25:NM_020744.2(MTA3) c.28+41T>C,NM_020744.2(MTA3) c.28+41T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 42797645 . G . . NT END=42806246;NT GT ./. 2 42806341 . G . . NT END=42836597;NT GT ./. 2 42836516 rs6720277 A G 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.1713,G/0.8287;PC=0.027;Gene=MTA3/NM_001282755.1/1;CC=c.23-82A>G;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.23-82A>G;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.191-82A>G;VC=Intron;DM=MTA3/BAH;DM=MTA3/BAH;DM=MTA3/BAH;DM=MTA3/BAH;DM=MTA3/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:27:0:0:19,11:605,342:0.00,30.88:0.00,20.75:0.00,10.13:0.00,1.00:0.00,1.00:0.00,0.97:60,60:9.8,36.9:0,0:0,0:43,33:107,118:30,12:-,NM_020744.2(MTA3) c.191-82A>G:-,0.76:-,NOT_FOUND 2 42836725 . G . . NT END=42867312;NT GT ./. 2 42867377 . G . . NT END=42871266;NT GT ./. 2 42871144 rs2272448 C G 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6448,G/0.3552;Gene=MTA3/NM_001282755.1/1;CC=c.214-123C>G;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.214-123C>G;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.382-123C>G;VC=Intron;DM=MTA3/BAH;DM=MTA3/BAH;DM=MTA3/BAH;DM=MTA3/BAH;DM=MTA3/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,C,G:13:13:0:0:1,5,7:7,168,223:0.09,0.00,22.08:0.09,0.00,22.08:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:117.0,21.8,44.6:0,0,0:0,0,0:103,28,72:48,121,77:0,27,25:-,NM_020744.2(MTA3) c.382-123C>G:-,0.35:-,NOT_FOUND 2 42871385 . G . . NT END=42883339;NT GT ./. 2 42883443 . G . . NT END=42886902;NT GT ./. 2 42887003 . G . . NT END=42909540;NT GT ./. 2 42909730 . G . . NT END=42922904;NT GT ./. 2 42922774 rs70963347 C CA 12 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.768;Gene=MTA3/NM_001282755.1/1;CC=c.724-104_724-103insA;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.724-104_724-103insA;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.892-104_892-103insA;VC=Intron;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,CA:10:12:6:0:6,4:209,196:0.00,12.24:0.00,12.24:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:48.8,75.2:0,2:0,0:76,39:64,109:47,33:-,NM_020744.2(MTA3) c.892-131_892-130insA:-,NOT_FOUND:-,NOT_FOUND 2 42922802 rs200999920 G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1;PC=0.998;Gene=MTA3/NM_001282755.1/1;CC=c.724-103G>A;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.724-103G>A;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.892-103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,G:14:14:0:0:4,10:83,213:6.58,0.00:6.58,0.00:0.00,0.00:0.77,0.00:0.77,0.00:0.00,0.00:60,60:72.5,31.6:0,0:0,0:96,35:54,100:18,32:NM_020744.2(MTA3) c.892-103G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 42922888 rs66547039 AT A 11 rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=AT/0.609,A/0.391;NP=481;PC=0.249;Gene=MTA3/NM_001282755.1/1;CC=c.724-4delT;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.724-4delT;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.892-4delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:AT,I,A:51:42:3:5:44,2,5:1330,100,158:0.00,4.08,11.18:0.00,2.00,7.84:0.00,2.08,3.34:0.00,0.00,0.72:0.00,0.00,0.94:0.00,0.00,0.90:60,60,60:20.0,18.0,24.8:0,1,0:0,0,0:40,49,55:104,94,92:15,9,14:-,NM_020744.2(MTA3) c.892-16delT:-,NOT_FOUND:-,NOT_FOUND 2 42922980 . G . . NT END=42924915;NT GT ./. 2 42924975 . G . . NT END=42931333;NT GT ./. 2 42925079 rs66846641 TTTC T 17 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TTTC/0.7562,T/0.2438;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TTTC/0.7562,T/0.2438;NP=256;PC=0.072;Gene=MTA3/NM_001282755.1/1;CC=c.857+113_857+115delTCT;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.857+113_857+115delTCT;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.1025+113_1025+115delTCT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:TTTC,T:18:0:0:6:12,6:365,195:0.00,17.39:0.00,0.00:0.00,17.39:0.00,0.94:0.00,0.00:0.00,0.94:60,60:2.5,7.5:0,0:0,0:67,88:83,61:51,20:-,NM_020744.2(MTA3) c.1025+106_1025+108delTTC:-,0.23:-,NOT_FOUND 2 42931217 rs2304658 A C 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.2512,C/0.7488;PC=0.001;Gene=MTA3/NM_001282755.1/1;CC=c.858-120A>C;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.858-120A>C;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.1026-117A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:31:0:0:11,20:362,546:0.00,55.28:0.00,46.89:0.00,8.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,42.4:0,0:0,0:47,57:103,94:20,21:-,NM_020744.2(MTA3) c.1026-117A>C:-,0.69:-,NOT_FOUND 2 42931459 . G . . NT END=42935042;NT GT ./. 2 42935195 . G . . NT END=42936013;NT GT ./. 2 42935706 rs6544589 T A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6933,A/0.3067;Gene=MTA3/NM_001282755.1/1;CC=c.1132-308T>A;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1132-308T>A;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.1303-308T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,T:4:3:0:0:3,1:68,34:7.19,0.00:6.10,0.00:1.09,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:68.7,0.0:0,0:0,0:69,70:76,80:23,0:NM_020744.2(MTA3) c.1303-308T>A,-:0.31,-:NOT_FOUND,- 2 42935961 rs4953577 C T 101 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.2588,T/0.7412;Gene=MTA3/NM_001282755.1/1;CC=c.1132-53C>T;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1132-53C>T;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.1303-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:58:0:0:30,33:996,1041:0.00,100.82:0.00,69.35:0.00,31.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,73.6:0,0:0,0:46,47:103,102:29,28:-,NM_020744.2(MTA3) c.1303-53C>T:-,0.67:-,NOT_FOUND 2 42935979 rs4953578 C T 125 nt VT=SNV;PN=A;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.2588,T/0.7412;Gene=MTA3/NM_001282755.1/1;CC=c.1132-35C>T;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1132-35C>T;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.1303-35C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:65:0:0:32,40:1087,1270:0.00,124.59:0.00,81.00:0.00,43.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,65.8:0,0:0,0:42,66:104,84:21,31:-,NM_020744.2(MTA3) c.1303-35C>T:-,0.67:-,0.647952 2 42936419 rs397718263 G GA 68 rn VT=INS;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.2664,GA/0.7336;DB;DBA=NA;PAF=G/0.999,A/0.0009984;DB;DBA=NA;PAF=G/0.2664,GA/0.7336;NP=1;NP=572;PC=0.002;Gene=MTA3/NM_001282755.1/1;CC=c.1354+193dupA;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1354+193dupA;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.*170dupA;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GA:76:33:26:1:3,46,1,26:98,1462,11,758:6.22,0.00,-0.10,67.73:-0.24,0.00,-0.08,27.72:6.46,0.00,-0.02,40.01:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:54.3,15.1,78.0,19.9:2,1,0,0:0,0,0,0:13,107,108,72:138,36,42,69:13,34,0,36:-,chr2 g.42936419_42936420insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 42936430 . T . . NT END=42946127;NT GT ./. 2 42936547 rs3816186 A C 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.2356,C/0.7644;PC=0.087;Gene=MTA3/NM_001282755.1/1;CC=c.1354+311A>C;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1354+311A>C;VC=Intron;Gene=MTA3/NM_020744.3/0;CC=c.*288A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:20:2:0:0:8,12:249,406:0.00,40.48:0.00,3.26:0.00,37.22:0.00,1.00:0.00,0.87:0.00,1.00:60,60:6.1,40.1:0,0:0,0:83,114:67,37:55,31:-,chr2 g.42936546A>C (intergenic):-,0.69:-,NOT_FOUND 2 42938916 . G GTGTGTGTT 9 nt VT=INS;SST=Single;DP=4;Gene=MTA3/NM_001282755.1/1;CC=c.1354+2680_1354+2681insTGTGTGTT;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1354+2680_1354+2681insTGTGTGTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GTGTGTGTT:4:3:3:0:1,3:33,88:0.00,9.25:0.00,2.60:0.00,6.65:0.00,0.85:0.00,0.99:0.00,0.99:60,60:72.0,140.7:0,0:0,0:14,55:122,96:0,7:-,chr2 g.42938916_42938917insTGTGTGTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 42938917 rs113277937 A T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3073,T/0.6927;Gene=MTA3/NM_001282755.1/1;CC=c.1354+2681A>T;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1354+2681A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:4:3:0:0:1,3:33,94:0.00,9.85:0.00,3.25:0.00,6.60:0.00,0.85:0.00,0.99:0.00,0.99:60,60:72.0,150.0:0,0:0,0:15,55:121,95:0,0:-,chr2 g.42938916A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 42938919 rs79292011 A T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3077,T/0.6923;Gene=MTA3/NM_001282755.1/1;CC=c.1354+2683A>T;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1354+2683A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:4:3:0:0:1,3:33,104:0.00,10.85:0.00,3.25:0.00,7.60:0.00,0.85:0.00,0.99:0.00,0.99:60,60:72.0,150.0:1,0:0,0:17,57:119,93:0,0:-,chr2 g.42938918A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 42938921 rs148420336 A T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.476,T/0.524;NP=2;PC=0.013;Gene=MTA3/NM_001282755.1/1;CC=c.1354+2685A>T;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1354+2685A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:4:3:0:0:1,3:33,105:0.00,10.95:0.00,3.25:0.00,7.70:0.00,0.85:0.00,0.99:0.00,0.99:60,60:72.0,150.0:1,0:0,0:19,59:117,91:0,0:-,chr2 g.42938920A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 42938923 rs139575046 A T,AGT 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4591,T/0.5409;NP=1;NP=28;NP=5;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:25:T,AGT:4:3:1:0:3,1:103,31:11.36,2.98:3.75,2.98:7.60,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,60:146.7,72.0:0,0:0,0:61,21:89,115:0,0:chr2 g.42938922A>T (intergenic),chr2 g.42938923_42938924insGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 42946215 . G . . NT END=42950028;NT GT ./. 2 42949805 rs2888840 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3894,T/0.6106;Gene=MTA3/NM_001282755.1/1;CC=c.1442-224C>T;VC=Intron;Gene=MTA3/NM_001282756.1/0;CC=c.1442-224C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,T:10:10:0:0:5,5:142,143:0.00,13.66:0.00,13.66:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:69.4,50.4:0,0:0,0:66,29:85,122:31,27:-,chr2 g.42949804C>T (intergenic):-,0.55:-,NOT_FOUND 2 42950176 . G . . NT END=42980513;NT GT ./. 2 42983171 . g . . NT END=42983584;NT GT ./. 2 42984087 . G . . NT END=42990047;NT GT ./. 2 42991127 rs146033252 G A 156 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.9982,A/0.001797;NP=14;Gene=OXER1/NM_148962.4/1;CC=c.193C>T;ProtCh=p.P65S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:118:72:0:0:57,1,60:1644,10,1848:156.24,-0.13,0.00:85.72,-0.10,0.00:70.52,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.1,159.0,9.5:0,0,0:0,0,0:65,84,71:86,38,79:39,0,45:NM_148962.4(OXER1) c.193C>T (p.Pro65Ser),-:0.0037,-:0.003152,- 2 42991320 . C . . NT END=42994576;NT GT ./. 2 42994656 . C . . NT END=42994734;NT GT ./. 2 42994818 . C . . NT END=42994999;NT GT ./. 2 42995069 . C . . NT END=42996852;NT GT ./. 2 42996709 . ATGTGTGTGTGTG A 29 idl,nt VT=DEL;SST=Single;DP=27;NP=6;PC=0.007;Gene=HAAO/NM_012205.2/1;CC=c.630+132_630+143delCACACACACACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATGTGTGTGTGTG,A:24:27:0:13:14,10:390,411:0.00,29.26:0.00,29.36:0.00,-0.10:0.00,1.00:0.00,1.00:0.00,0.58:60,60:29.8,25.0:0,3:0,0:77,55:59,96:35,26:-,NM_012205.2(HAAO) c.630+132_630+143delCACACACACACA:-,NOT_FOUND:-,NOT_FOUND 2 42996759 rs66779554 AAGAG A 57 idl,nt VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1301;PC=0.001;Gene=HAAO/NM_012205.2/1;CC=c.630+90_630+93delCTCT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAGAG,G,T,A:36:37:0:21:15,1,2,18:444,11,19,605:0.00,0.10,0.34,56.64:0.00,0.12,0.36,53.36:0.00,-0.01,-0.02,3.27:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.93:60,60,60,60:24.6,20.0,50.0,30.5:0,0,0,1:0,0,0,0:44,113,86,61:105,38,64,90:24,0,40,38:-,NM_012205.2(HAAO) c.630+90_630+93delCTCT:-,NOT_FOUND:-,NOT_FOUND 2 42996819 rs13413507 G A 141 nt VT=SNV;PN=G;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.9111,A/0.08886;PC=0.002;Gene=HAAO/NM_012205.2/1;CC=c.630+34C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:79:67:0:0:45,33,1:1428,1014,9:141.07,0.00,-0.09:88.23,0.00,-0.03:52.83,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.2,13.3,89.0:0,0,0:0,0,0:34,45,110:116,103,7:24,20,0:NM_012205.2(HAAO) c.630+34C>T,-:0.08,-:0.110257,- 2 42996999 . C . . NT END=42997282;NT GT ./. 2 42997327 . C . . NT END=42997632;NT GT ./. 2 42997614 rs2241850 G A 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.5913,A/0.4087;Gene=HAAO/NM_012205.2/1;CC=c.440+19C>T;VC=Intron;DM=HAAO/3-HAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:42:0:0:22,33:674,1014:61.80,0.00:38.75,0.00:23.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,7.1:0,0:0,0:51,41:99,110:23,23:NM_012205.2(HAAO) c.440+19C>T,-:0.43,-:0.308381,- 2 42997723 . C . . NT END=43010453;NT GT ./. 2 43010561 . C . . NT END=43010923;NT GT ./. 2 43011008 . C . . NT END=43011054;NT GT ./. 2 43011081 . A . . NT END=43015668;NT GT ./. 2 43011169 rs4953660 G T 73 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.3235,T/0.6765;Gene=HAAO/NM_012205.2/1;CC=c.160-162C>A;VC=Intron;DM=HAAO/3-HAO;DM=HAAO/3-HAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:49:6:0:0:24,25:727,755:0.00,72.68:0.00,3.11:0.00,69.56:0.00,1.00:0.00,0.98:0.00,1.00:60,60:8.2,34.8:0,0:0,0:105,117:45,34:14,13:-,NM_012205.2(HAAO) c.160-162C>A:-,0.65:-,NOT_FOUND 2 43015612 rs3816181 G T 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=HAAO/NM_012205.2/1;CC=c.159+57C>A;VC=Intron;DM=HAAO/3-HAO;DM=HAAO/3-HAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:27:0:0:18,10:532,330:0.00,29.84:0.00,19.49:0.00,10.35:0.00,1.00:0.00,1.00:0.00,0.94:60,60:3.8,50.4:0,0:0,0:23,55:128,96:18,23:-,NM_012205.2(HAAO) c.159+57C>A:-,0.81:-,0.803767 2 43015719 rs3816183 T C 49 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.1404,C/0.8596;PC=1.000;Gene=HAAO/NM_012205.2/1;CC=c.109A>G;ProtCh=p.I37V;VC=Missense;DM=HAAO/3-HAO;DM=HAAO/3-HAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:51:0:0:18,45:570,1427:49.23,0.00:27.63,0.00:21.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.8,4.8:0,0:0,0:71,56:54,89:26,28:NM_012205.2(HAAO) c.109A>G (p.Ile37Val),-:0.82,-:0.793634,- 2 43015748 . C . . NT END=43019596;NT GT ./. 2 43015757 rs3816184 G A 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.1416,A/0.8584;Gene=HAAO/NM_012205.2/1;CC=c.81-10C>T;VC=Intron;DM=HAAO/3-HAO;DM=HAAO/3-HAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:41:0:0:18,41:604,1291:53.25,0.00:25.93,0.00:27.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.9,4.6:0,0:0,0:99,79:30,61:20,26:NM_012205.2(HAAO) c.81-10C>T,-:0.81,-:0.793557,- 2 43015902 rs3816185 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.142,A/0.858;Gene=HAAO/NM_012205.2/1;CC=c.81-155C>T;VC=Intron;DM=HAAO/3-HAO;DM=HAAO/3-HAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,G:18:0:0:0:5,13:158,382:13.57,0.00:0.00,0.00:13.57,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:33.8,11.0:0,0:0,0:115,115:35,33:7,14:NM_012205.2(HAAO) c.81-155C>T,-:0.81,-:NOT_FOUND,- 2 43019677 . G . . NT END=43451457;NT GT ./. 2 43019730 rs2304656 A G 115 nt VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.1414,G/0.8586;Gene=HAAO/NM_012205.2/1;CC=c.-54T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:74:24:0:0:36,38:1150,1192:0.00,115.07:0.00,22.34:0.00,92.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,41.9:0,0:0,0:98,112:50,29:25,24:-,NM_012205.2(HAAO) c.-54T>C:-,0.81:-,NOT_FOUND 2 43452892 . C . . NT END=43453403;NT GT ./. 2 43453086 rs35064085 G A 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8502,A/0.1498;Gene=ZFP36L2/NM_006887.4/1;CC=c.52-195C>T;VC=Intron;DM=ZFP36L2/Tis11B_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:4:0:0:8:247:28.51:13.20:15.31:1.00:1.00:1.00:60:41.6:0:0:75:75:59:NM_006887.4(ZFP36L2) c.52-195C>T,NM_006887.4(ZFP36L2) c.52-195C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 2 43453455 . G . . NT END=43458086;NT GT ./. 2 43458483 . C . . NT END=43459851;NT GT ./. 2 43460022 . C . . NT END=43506903;NT GT ./. 2 43507036 . C . . NT END=43514046;NT GT ./. 2 43514201 . C . . NT END=43518834;NT GT ./. 2 43518908 . C . . NT END=43519242;NT GT ./. 2 43519362 . C . . NT END=43519972;NT GT ./. 2 43520353 . C . . NT END=43547584;NT GT ./. 2 43547680 . C . . NT END=43571260;NT GT ./. 2 43571377 . C . . NT END=43625109;NT GT ./. 2 43592705 rs375762944 G GACACAC 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=11;NP=15;NP=5;PC=0.001;Gene=THADA/NM_001083953.1/1;CC=c.4228-21330_4228-21329insGTGTGT;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.4228-21330_4228-21329insGTGTGT;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,GACACAC:4:4:4:0:1,3:34,127:0.00,10.27:0.00,8.69:0.00,1.58:0.00,0.78:0.00,0.97:0.00,0.94:60,60:34.0,0.0:0,1:0,0:134,46:17,104:0,32:-,NM_001083953.1(THADA) c.4228-21330_4228-21329insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 43625279 . C . . NT END=43655238;NT GT ./. 2 43625404 rs77442683 C T 99 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.9293,T/0.07069;Gene=THADA/NM_001083953.1/1;CC=c.4059-126G>A;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.4059-126G>A;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:2:0:0:27:862:99.05:3.53:95.52:1.00:1.00:1.00:60:34.6:0:0:97:53:26:NM_001083953.1(THADA) c.4059-126G>A,NM_001083953.1(THADA) c.4059-126G>A:0.09,0.09:NOT_FOUND,NOT_FOUND 2 43652585 rs145614349 ATGTG A 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=34;PC=0.003;Gene=THADA/NM_001083953.1/1;CC=c.4058+2650_4058+2653delCACA;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.4058+2650_4058+2653delCACA;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:4:3:125:10.26:3.30:6.95:0.85:0.85:0.85:60:52.7:1:0:51:84:15:NM_001083953.1(THADA) c.4058+2650_4058+2653delCACA,NM_001083953.1(THADA) c.4058+2650_4058+2653delCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 43655371 . C . . NT END=43657351;NT GT ./. 2 43657442 . C . . NT END=43712372;NT GT ./. 2 43712465 . C . . NT END=43725971;NT GT ./. 2 43726095 . C . . NT END=43732760;NT GT ./. 2 43732875 . C . . NT END=43735786;NT GT ./. 2 43735920 . C . . NT END=43755017;NT GT ./. 2 43755128 . C . . NT END=43768297;NT GT ./. 2 43755265 rs367617080 C CT 9 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;PC=0.839;Gene=THADA/NM_001083953.1/1;CC=c.3265-139_3265-138insA;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.3265-139_3265-138insA;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;DM=THADA/DUF2428;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T,CT:9:0:3:0:4,2,3:127,35,93:0.00,2.72,8.60:0.00,0.00,0.00:0.00,2.72,8.60:0.00,0.00,0.64:0.00,0.00,0.00:0.00,0.00,0.64:60,60,60:3.5,103.0,52.0:0,0,0:0,0,0:144,72,116:6,65,35:4,28,0:-,NM_001083953.1(THADA) c.3265-139_3265-138insA:-,NOT_FOUND:-,NOT_FOUND 2 43768233 . TA T 8 rn VT=DEL;SST=Single;DP=52;NP=16;Gene=THADA/NM_001083953.1/1;CC=c.3264+64delT;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.3264+64delT;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;DM=THADA/DUF2428;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:TA,I,T:52:50:2:4:46,2,4:1454,62,126:0.00,3.55,8.46:0.00,3.61,5.93:0.00,-0.07,2.53:0.00,0.00,0.54:0.00,0.00,0.93:0.00,0.00,0.43:60,60,60:5.0,0.0,6.0:0,0,0:0,0,0:41,75,15:110,75,135:28,60,5:-,NM_001083953.1(THADA) c.3264+64delT:-,NOT_FOUND:-,NOT_FOUND 2 43768456 . C . . NT END=43776348;NT GT ./. 2 43768644 rs371718091 G GT 12 rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=THADA/NM_001083953.1/1;CC=c.3107-190_3107-189insA;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.3107-190_3107-189insA;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;DM=THADA/DUF2428;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:G,GT,D:26:0:5:2:19,5,2:631,149,53:0.00,11.94,3.38:0.00,0.00,0.00:0.00,11.94,3.38:0.00,0.82,0.00:0.00,0.00,0.00:0.00,0.82,0.00:60,60,60:10.9,25.6,97.5:0,0,0:0,0,0:131,109,48:20,41,102:11,17,28:-,NM_001083953.1(THADA) c.3107-190_3107-189insA:-,NOT_FOUND:-,NOT_FOUND 2 43776508 . C . . NT END=43778927;NT GT ./. 2 43778857 . G GA 7 idl,rn VT=INS;SST=Single;DP=31;NP=8;Gene=THADA/NM_001083953.1/1;CC=c.2947+70dupT;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.2947+70dupT;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;DM=THADA/DUF2428;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,G,GA,D:30:29:4:3:1,23,3,3:10,670,128,94:-0.06,0.00,6.88,6.78:-0.28,0.00,4.25,5.73:0.22,0.00,2.63,1.05:0.00,0.00,0.42,0.00:0.00,0.00,0.87,0.00:0.00,0.00,0.54,0.00:60,60,60,60:57.0,23.7,8.0,3.0:0,0,1,0:0,0,0,0:23,47,75,82:127,102,76,68:0,20,24,31:-,NM_001083953.1(THADA) c.2947+70_2947+71insT:-,NOT_FOUND:-,NOT_FOUND 2 43779065 . C . . NT END=43779206;NT GT ./. 2 43779206 rs142593751 G GT 279 PASS VT=INS;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.9475,GT/0.05252;NP=250;NP=4;Gene=THADA/NM_001083953.1/1;CC=c.2810+136dupA;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.2810+136dupA;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.*132dupA;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G,GT:81:54:79:0:2,79:36,2449:0.00,278.64:0.00,144.02:0.00,134.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.0,6.6:1,0:0,0:111,61:27,87:38,32:NM_001083953.1(THADA) c.2810+136_2810+137insA,NM_001083953.1(THADA) c.2810+136_2810+137insA:0.06,0.06:NOT_FOUND,NOT_FOUND 2 43779479 . C . . NT END=43783231;NT GT ./. 2 43783695 . C . . NT END=43787372;NT GT ./. 2 43787525 . C . . NT END=43793836;NT GT ./. 2 43793961 . C . . NT END=43797526;NT GT ./. 2 43793963 . TA T 21 idl,rn VT=DEL;SST=Single;DP=74;NP=4;PC=0.983;Gene=THADA/NM_001083953.1/1;CC=c.2188-4delT;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.2188-4delT;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.2188-4delT;VC=Intron;Gene=THADA/NM_001271644.1/0;CC=c.2188-4delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,TA,I,T:72:47:7:9:2,56,5,9:21,1708,211,278:-0.15,0.00,9.55,20.72:-0.29,0.00,5.20,6.94:0.13,0.00,4.36,13.78:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,70:17.0,14.2,54.8,8.7:0,1,2,0:0,0,0,0:9,90,91,60:141,45,60,61:9,36,17,28:-,NM_001083953.1(THADA) c.2188-4delT:-,NOT_FOUND:-,NOT_FOUND 2 43797650 . C . . NT END=43798845;NT GT ./. 2 43797981 rs78428333 C CATT 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;Gene=THADA/NM_001083953.1/1;CC=c.2065-333_2065-332insAAT;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.2065-333_2065-332insAAT;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.2065-333_2065-332insAAT;VC=Intron;Gene=THADA/NM_001271644.1/0;CC=c.2065-333_2065-332insAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CATT:4:0:4:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:70:3.2:0:0:113:37:16:NM_001083953.1(THADA) c.2065-333_2065-332insAAT,NM_001083953.1(THADA) c.2065-333_2065-332insAAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 43799002 . C . . NT END=43799952;NT GT ./. 2 43799070 rs3752355 C T 136 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.3564,T/0.6436;Gene=THADA/NM_001083953.1/1;CC=c.1909-69G>A;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.1909-69G>A;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.1909-69G>A;VC=Intron;Gene=THADA/NM_001271644.1/0;CC=c.1909-69G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A,T:39:10:0:0:1,38:11,1188:0.27,136.40:0.00,20.76:0.27,115.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:154.0,40.3:0,0:0,0:14,106:137,38:0,32:NM_001083953.1(THADA) c.1909-69G>A,NM_001083953.1(THADA) c.1909-69G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 43799837 rs138195131 T C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.9932,C/0.006789;Gene=THADA/NM_001083953.1/1;CC=c.1908+116A>G;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.1908+116A>G;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.1908+116A>G;VC=Intron;Gene=THADA/NM_001271644.1/0;CC=c.1908+116A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:21:0:0:10,12:335,339:31.72,0.00:28.69,0.00:3.03,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:35.1,12.4:0,0:0,0:53,73:97,77:39,33:NM_001083953.1(THADA) c.1908+116A>G,-:0.01,-:NOT_FOUND,- 2 43800132 . C . . NT END=43801474;NT GT ./. 2 43802167 . C . . NT END=43804160;NT GT ./. 2 43802261 rs970175 C A 92 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=2381;Gene=THADA/NM_001083953.1/1;CC=c.1038-95G>T;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.1038-95G>T;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.1038-95G>T;VC=Intron;Gene=THADA/NM_001271644.1/0;CC=c.1038-95G>T;VC=Intron;DM=THADA/DUF2428 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:1:0:0:26:795:91.79:1.94:89.86:1.00:1.00:1.00:60:36.6:0:0:119:31:21:NM_001083953.1(THADA) c.1038-95G>T,NM_001083953.1(THADA) c.1038-95G>T:1,1:NOT_FOUND,NOT_FOUND 2 43804382 . C . . NT END=43805651;NT GT ./. 2 43804570 rs72867061 G A 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9505,A/0.04952;Gene=THADA/NM_001083953.1/1;CC=c.817-189C>T;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.817-189C>T;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.817-189C>T;VC=Intron;Gene=THADA/NM_001271644.1/0;CC=c.817-189C>T;VC=Intron;DM=THADA/DUF2428 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:332:38.37:0.00:38.37:1.00:0.00:1.00:60:51.9:0:0:101:50:16:NM_001083953.1(THADA) c.817-189C>T,NM_001083953.1(THADA) c.817-189C>T:0.07,0.07:NOT_FOUND,NOT_FOUND 2 43805747 . C . . NT END=43808879;NT GT ./. 2 43809068 . C . . NT END=43813539;NT GT ./. 2 43813589 . C . . NT END=43813840;NT GT ./. 2 43813874 . C . . NT END=43813992;NT GT ./. 2 43814142 . C . . NT END=43817962;NT GT ./. 2 43817783 . CA C 11 idl,rn VT=DEL;SST=Single;DP=19;PC=0.003;Gene=THADA/NM_001083953.1/1;CC=c.302+179delT;VC=Intron;Gene=THADA/NM_022065.4/0;CC=c.302+179delT;VC=Intron;Gene=THADA/NR_073394.1/0;VC=NonCoding;Gene=THADA/NM_001271643.1/0;CC=c.302+179delT;VC=Intron;Gene=THADA/NM_001271644.1/0;CC=c.302+179delT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CA,I,C:16:19:4:6:9,3,4:298,132,188:0.00,8.26,10.58:0.00,8.26,10.58:0.00,0.00,0.00:0.00,0.00,0.72:0.00,0.00,0.72:0.00,0.00,0.00:60,60,60:7.1,29.0,31.8:0,1,2:0,0,0:82,67,86:68,83,64:61,29,21:-,NM_001083953.1(THADA) c.302+179delT:-,NOT_FOUND:-,NOT_FOUND 2 43818094 . C . . NT END=43819090;NT GT ./. 2 43819186 . C . . NT END=43819455;NT GT ./. 2 43819532 . T . . NT END=43871812;NT GT ./. 2 43871936 . G . . NT END=43902513;NT GT ./. 2 43871983 rs12105773 T C 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4181,C/0.5819;PC=0.001;Gene=PLEKHH2/NM_172069.3/1;CC=c.123+48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:8:0:0:14,8:406,245:40.92,0.00:9.58,0.00:31.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,13.4:0,0:0,0:115,65:33,55:18,12:NM_172069.3(PLEKHH2) c.123+48T>C,-:0.58,-:0.684453,- 2 43902511 rs755862 G C 214 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.4473,C/0.5527;Gene=PLEKHH2/NM_172069.3/1;CC=c.124-3491G>C;VC=Intron;Gene=C1GALT1C1L/NM_001101330.2/1;CC=c.*3C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:C,T:58:55:0:0:57,1:1877,10:214.33,0.16:173.17,0.16:41.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,103.0:0,0:0,0:71,75:78,74:40,0:NM_001101330.1(LOC728819) c.=,NM_001101330.1(LOC728819) c.=:0.55,0.55:0.706303,0.706303 2 43903066 rs3828297 A G 493 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.4575,G/0.5425;Gene=PLEKHH2/NM_172069.3/1;CC=c.124-2936A>G;VC=Intron;Gene=C1GALT1C1L/NM_001101330.2/1;CC=c.396T>C;ProtCh=p.G132=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:139:86:0:0:1,138:10,4298:0.00,493.33:0.00,240.19:0.00,253.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:209.0,37.0:0,0:0,0:68,73:83,70:0,30:NM_001101330.1(LOC728819) c.396T>C (p.(=)),NM_001101330.1(LOC728819) c.396T>C (p.(=)):0.54,0.54:0.699333,0.699333 2 43903354 rs4952675 T C 412 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.4974,C/0.5026;Gene=PLEKHH2/NM_172069.3/1;CC=c.124-2648T>C;VC=Intron;Gene=C1GALT1C1L/NM_001101330.2/1;CC=c.108A>G;ProtCh=p.Q36=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:107:70:0:0:107:3612:412.15:210.15:202.00:1.00:1.00:1.00:60:47.8:0:0:62:88:36:NM_001101330.1(LOC728819) c.=,NM_001101330.1(LOC728819) c.=:0.51,0.51:0.67178,0.67178 2 43903462 . T . . NT END=43906001;NT GT ./. 2 43903483 rs4952995 T C 261 nt VT=SNV;PN=G;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.4395,C/0.5605;Gene=PLEKHH2/NM_172069.3/1;CC=c.124-2519T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:35:0:0:71:2275:261.18:91.61:169.58:1.00:1.00:1.00:60:48.5:0:0:93:54:29:NM_172069.3(PLEKHH2) c.124-2519T>C,NM_172069.3(PLEKHH2) c.124-2519T>C:0.57,0.57:0.700757,0.700757 2 43905876 rs113794228 A G 10 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8039,G/0.1961;Gene=PLEKHH2/NM_172069.3/1;CC=c.124-126A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G,I:6:6:1:0:2,3,1:66,100,25:0.00,9.93,2.04:0.00,9.93,2.04:0.00,0.00,0.00:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.00,0.00:60,60,60:0.0,48.7,96.0:0,0,0:0,0,0:33,4,36:118,146,115:1,0,0:-,NM_172069.3(PLEKHH2) c.124-126A>G:-,0.29:-,NOT_FOUND 2 43906065 . G . . NT END=43919652;NT GT ./. 2 43906158 rs561967145 C G 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+94C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:17:2:0:0:7,10:219,313:0.00,31.06:0.00,-0.39:0.00,31.45:0.00,1.00:0.00,0.86:0.00,1.00:60,60:13.9,48.6:0,0:0,0:133,85:18,65:12,39:-,NM_172069.3(PLEKHH2) c.186+94C>G:-,NOT_FOUND:-,NOT_FOUND 2 43907911 rs7561373 G C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3948,C/0.6052;PC=0.032;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+1847G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:115:13.36:13.36:0.00:1.00:1.00:0.00:60:61.8:0:0:41:109:7:NM_172069.3(PLEKHH2) c.186+1847G>C,NM_172069.3(PLEKHH2) c.186+1847G>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 43907938 rs10178541 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6306,T/0.3694;PC=0.797;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+1874C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:7:0:0:4,3:109,96:0.00,8.96:0.00,8.96:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:35.8,108.0:0,0:0,0:68,18:82,133:8,6:-,NM_172069.3(PLEKHH2) c.186+1874C>T:-,0.38:-,NOT_FOUND 2 43907955 rs10191033 T C 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.63,C/0.37;PC=0.111;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+1891T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,T:7:7:0:0:3,4:90,135:8.35,0.00:7.25,0.00:1.10,0.00:0.69,0.00:0.69,0.00:0.62,0.00:60,60:67.3,35.8:0,0:0,0:29,85:122,65:25,8:NM_172069.3(PLEKHH2) c.186+1891T>C,-:0.38,-:NOT_FOUND,- 2 43908544 rs6728623 T C 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.8149,C/0.1851;PC=0.999;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+2480T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:44:0:0:29,25:958,785:93.45,0.00:71.00,0.00:22.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,7.8:0,0:0,0:52,55:99,95:22,26:NM_172069.3(PLEKHH2) c.186+2480T>C,-:0.17,-:NOT_FOUND,- 2 43908689 rs11897064 T C 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.6296,C/0.3704;PC=1.000;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+2625T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:19:0:0:21,27:630,910:58.71,0.00:16.32,0.00:42.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,12.3:0,0:0,0:97,107:51,36:32,31:NM_172069.3(PLEKHH2) c.186+2625T>C,-:0.38,-:NOT_FOUND,- 2 43908762 rs12053399 A G 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8153,G/0.1847;PC=0.004;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+2698A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:11,12:327,371:0.00,35.90:0.00,0.00:0.00,35.90:0.00,1.00:0.00,0.00:0.00,1.00:60,60:31.0,36.5:0,0:0,0:116,122:32,28:21,15:-,NM_172069.3(PLEKHH2) c.186+2698A>G:-,0.18:-,NOT_FOUND 2 43910078 rs74472377 T TAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9822,TAC/.,TATACACAC/0.01777;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9381,C/0.0619;NP=2;PC=0.018;Gene=PLEKHH2/NM_172069.3/1;CC=c.186+4037_186+4038insCA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TAC:4:3:2:0:2,2:67,67:0.00,6.45:0.00,1.19:0.00,5.26:0.00,0.51:0.00,0.89:0.00,0.79:60,60:51.0,22.5:0,0:0,0:74,58:76,92:45,21:-,NM_172069.3(PLEKHH2) c.186+4014_186+4015insAC:-,NOT_FOUND:-,NOT_FOUND 2 43919803 . G . . NT END=43921569;NT GT ./. 2 43919934 rs17031284 G C 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8576,C/0.1424;Gene=PLEKHH2/NM_172069.3/1;CC=c.336+132G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:2:0:0:7,9:210,310:19.56,0.00:-0.25,0.00:19.81,0.00:0.98,0.00:0.74,0.00:0.98,0.00:60,60:45.0,8.9:0,0:0,0:75,94:76,57:29,42:NM_172069.3(PLEKHH2) c.336+132G>C,-:0.13,-:NOT_FOUND,- 2 43919954 rs149919085 AG A 22 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=AG/0.859,A/0.141;NP=269;PC=0.001;Gene=PLEKHH2/NM_172069.3/1;CC=c.336+154delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:14:0:0:7:7,7:237,231:0.00,22.22:0.00,0.00:0.00,22.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.1,40.7:0,0:0,0:108,80:42,71:16,21:-,NM_172069.3(PLEKHH2) c.336+153delG:-,0.14:-,NOT_FOUND 2 43921489 rs12616572 A T 26 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4706,T/0.5294;PC=0.016;Gene=PLEKHH2/NM_172069.3/1;CC=c.337-81A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:227:26.04:24.15:1.89:1.00:1.00:1.00:60:34.0:0:0:68:82:42:NM_172069.3(PLEKHH2) c.337-81A>T,NM_172069.3(PLEKHH2) c.337-81A>T:0.5,0.5:NOT_FOUND,NOT_FOUND 2 43921654 . G . . NT END=43922281;NT GT ./. 2 43922364 . G . . NT END=43924309;NT GT ./. 2 43924171 rs10211617 T A 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4712,A/0.5288;Gene=PLEKHH2/NM_172069.3/1;CC=c.503-139T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:226:25.94:25.94:0.00:1.00:1.00:0.00:60:35.3:0:0:86:65:29:NM_172069.3(PLEKHH2) c.503-139T>A,NM_172069.3(PLEKHH2) c.503-139T>A:0.5,0.5:NOT_FOUND,NOT_FOUND 2 43924496 . G . . NT END=43926785;NT GT ./. 2 43926943 rs7606783 T A 300 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.4728,A/0.5272;Gene=PLEKHH2/NM_172069.3/1;CC=c.846T>A;ProtCh=p.P282=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:47:0:0:78:2627:299.84:131.47:168.37:1.00:1.00:1.00:60:38.7:0:0:64:87:34:NM_172069.3(PLEKHH2) c.846T>A (p.(=)),NM_172069.3(PLEKHH2) c.846T>A (p.(=)):0.49,0.49:0.607566,0.607566 2 43927459 rs12623703 C G 132 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.863,G/0.137;PC=1.000;Gene=PLEKHH2/NM_172069.3/1;CC=c.1362C>G;ProtCh=p.A454=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:89:48:0:0:43,44,2:1386,1373,38:0.00,131.99,1.60:0.00,58.30,-0.18:0.00,73.69,1.78:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.4,36.8,172.0:0,0,0:0,0,0:93,77,84:56,67,65:29,37,4:-,NM_172069.3(PLEKHH2) c.1362C>G (p.(=)):-,0.13:-,0.136399 2 43927748 . G . . NT END=43931119;NT GT ./. 2 43931055 rs10530805 CTTTTT C 7 idl,nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.008;Gene=PLEKHH2/NM_172069.3/1;CC=c.1651-44_1651-40delTTTTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:CTTTTT,C:9:13:0:8:6,3:209,240:0.00,7.50:0.00,3.89:0.00,3.61:0.00,0.56:0.00,0.92:0.00,0.55:60,60:45.3,177.3:0,5:0,0:85,53:59,91:45,25:-,NM_172069.3(PLEKHH2) c.1651-64_1651-60delTTTTT:-,NOT_FOUND:-,NOT_FOUND 2 43931176 rs4953002 T C 92 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.5521,C/0.4479;PC=0.025;Gene=PLEKHH2/NM_172069.3/1;CC=c.1707T>C;ProtCh=p.N569=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:15:0:0:24:810:92.44:36.33:56.11:1.00:1.00:1.00:60:46.7:0:0:86:49:20:NM_172069.3(PLEKHH2) c.1707T>C (p.(=)),NM_172069.3(PLEKHH2) c.1707T>C (p.(=)):0.43,0.43:0.548209,0.548209 2 43931196 . G . . NT END=43933460;NT GT ./. 2 43931321 rs4953003 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.527,A/0.473;Gene=PLEKHH2/NM_172069.3/1;CC=c.1726+126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:190:21.86:0.00:21.86:1.00:0.00:1.00:60:48.7:0:0:100:49:12:NM_172069.3(PLEKHH2) c.1726+126G>A,NM_172069.3(PLEKHH2) c.1726+126G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 43933556 . G . . NT END=43934539;NT GT ./. 2 43934335 rs67550912 C CAAAAA 10 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.292;Gene=PLEKHH2/NM_172069.3/1;CC=c.1822-185_1822-184insAAAAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CAAAAA:4:8:7:0:1,3:34,229:0.00,9.65:0.00,9.65:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:116.0,16.7:0,4:0,0:18,30:133,121:0,17:-,NM_172069.3(PLEKHH2) c.1822-205_1822-204insAAAAA:-,NOT_FOUND:-,NOT_FOUND 2 43934685 . G . . NT END=43937128;NT GT ./. 2 43934884 rs543062927 G GT 15 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;Gene=PLEKHH2/NM_172069.3/1;CC=c.1966+211dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:G,T,GT,D:11:0:8:1:3,2,5,1:97,66,237,32:0.00,5.66,14.87,2.43:0.00,0.00,0.00,0.00:0.00,5.66,14.87,2.43:0.00,0.00,0.90,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.90,0.00:60,60,60,60:0.0,183.5,39.4,0.0:0,2,3,0:0,0,0,0:147,76,81,131:4,74,69,18:2,44,45,0:-,NM_172069.3(PLEKHH2) c.1966+200_1966+201insT:-,NOT_FOUND:-,NOT_FOUND 2 43936952 rs9678355 T C 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4445,C/0.5555;Gene=PLEKHH2/NM_172069.3/1;CC=c.1967-177T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:399:45.61:45.61:0.00:1.00:1.00:0.00:60:65.1:0:0:31:120:13:NM_172069.3(PLEKHH2) c.1967-177T>C,NM_172069.3(PLEKHH2) c.1967-177T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 2 43936974 rs9679009 A G 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4445,G/0.5555;PC=0.001;Gene=PLEKHH2/NM_172069.3/1;CC=c.1967-155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:405:46.70:46.70:0.00:1.00:1.00:0.00:60:66.8:0:0:49:102:16:NM_172069.3(PLEKHH2) c.1967-155A>G,NM_172069.3(PLEKHH2) c.1967-155A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 2 43937266 . G . . NT END=43937358;NT GT ./. 2 43937470 . G . . NT END=43937627;NT GT ./. 2 43937715 . G . . NT END=43937976;NT GT ./. 2 43938368 . T . . NT END=43938373;NT GT ./. 2 43938558 rs6713194 C A 215 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.4613,A/0.5387;PC=0.002;Gene=PLEKHH2/NM_172069.3/1;CC=c.2302-806C>A;VC=Intron;DM=PLEKHH2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:A,C:63:38:0:0:62,1:1874,10:214.98,0.00:99.58,0.00:115.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,26.0:0,0:0,0:81,109:70,41:33,0:NM_172069.3(PLEKHH2) c.2302-806C>A,NM_172069.3(PLEKHH2) c.2302-806C>A:0.5,0.5:NOT_FOUND,NOT_FOUND 2 43938771 . c . . NT END=43939033;NT GT ./. 2 43939032 rs76519695 C CA 52 idl,rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=26;PC=0.026;Gene=PLEKHH2/NM_172069.3/1;CC=c.2302-316_2302-315insA;VC=Intron;DM=PLEKHH2/PH;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,T,CA,D:26:31:19:5:7,1,16,2:219,10,611,117:0.00,0.16,52.34,4.77:0.00,0.17,52.50,4.78:0.00,-0.01,-0.16,-0.01:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.68,0.00:60,60,60,60:32.7,83.0,51.6,83.5:0,0,3,2:0,0,0,0:41,138,39,52:110,12,112,99:31,0,27,26:-,NM_172069.3(PLEKHH2) c.2302-332_2302-331insA:-,NOT_FOUND:-,NOT_FOUND 2 43939079 rs2888881 A G 115 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.3377,G/0.6623;PC=0.001;Gene=PLEKHH2/NM_172069.3/1;CC=c.2302-285A>G;VC=Intron;DM=PLEKHH2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:A,G:39:33:0:0:1,38:13,996:0.00,115.40:0.00,71.81:0.00,43.58:0.00,1.00:0.00,1.00:0.00,1.00:60,70:55.0,43.0:0,0:0,0:86,57:65,93:0,25:NM_172069.3(PLEKHH2) c.2302-285A>G,NM_172069.3(PLEKHH2) c.2302-285A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 43939105 . C . . NT END=43939363;NT GT ./. 2 43939523 . G . . NT END=43947807;NT GT ./. 2 43939525 rs13028613 A G 80 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.871,G/0.129;PC=1.000;Gene=PLEKHH2/NM_172069.3/1;CC=c.2460+3A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:22:0:0:27,26:904,831:0.00,79.54:0.00,16.03:0.00,63.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,42.9:0,0:0,0:78,74:72,74:33,22:-,NM_172069.3(PLEKHH2) c.2460+3A>G:-,0.14:-,0.187683 2 43947760 rs10206389 T C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8498,C/0.1502;PC=0.003;Gene=PLEKHH2/NM_172069.3/1;CC=c.2461-48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:15:13:0:0:4,11:110,302:9.14,0.00:3.94,0.00:5.20,0.00:0.76,0.00:0.96,0.00:0.82,0.00:60,60:27.5,14.7:0,0:0,0:28,33:122,118:11,25:NM_172069.3(PLEKHH2) c.2461-48T>C,-:0.15,-:0.155467,- 2 43947889 . G . . NT END=43953410;NT GT ./. 2 43947944 rs17031344 A G 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6316,G/0.3684;Gene=PLEKHH2/NM_172069.3/1;CC=c.2541+56A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:3:0:0:7,9:230,307:0.00,30.23:0.00,5.11:0.00,25.12:0.00,1.00:0.00,0.92:0.00,1.00:60,60:28.6,35.6:0,0:0,0:84,120:66,30:27,25:-,NM_172069.3(PLEKHH2) c.2541+56A>G:-,0.35:-,0.433173 2 43953263 rs3066315 CAA C 14 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CAA/0.4309,C/0.5691;DB;DBA=NA;PAF=CAA/0.4309,C/0.5691;NP=19;PC=0.013;Gene=PLEKHH2/NM_172069.3/1;CC=c.2542-133_2542-132delAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CAA,C:5:7:0:6:1,4:35,199:0.00,14.17:0.00,14.17:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:0.0,0.0:0,2:0,0:131,51:15,97:0,11:-,NM_172069.3(PLEKHH2) c.2542-147_2542-146delAA:-,NOT_FOUND:-,NOT_FOUND 2 43953591 . G . . NT END=43956775;NT GT ./. 2 43953664 rs7574334 A G 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4531,G/0.5469;PC=0.886;Gene=PLEKHH2/NM_172069.3/1;CC=c.2721+74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:2:0:0:18:554:63.90:3.88:60.02:1.00:1.00:1.00:60:55.7:0:0:91:59:35:NM_172069.3(PLEKHH2) c.2721+74A>G,NM_172069.3(PLEKHH2) c.2721+74A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 43953752 rs2374573 C T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4463,T/0.5537;PC=0.010;Gene=PLEKHH2/NM_172069.3/1;CC=c.2721+162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:237:27.04:0.00:27.04:1.00:0.00:1.00:60:62.6:0:0:130:20:14:NM_172069.3(PLEKHH2) c.2721+162C>T,NM_172069.3(PLEKHH2) c.2721+162C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 2 43956885 . G . . NT END=43958628;NT GT ./. 2 43958742 . G . . NT END=43965479;NT GT ./. 2 43965660 . G . . NT END=43967954;NT GT ./. 2 43965705 rs28646121 T C 72 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.7987,C/0.2013;Gene=PLEKHH2/NM_172069.3/1;CC=c.3123+46T>C;VC=Intron;DM=PLEKHH2/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:9:0:0:23,18:737,593:72.41,0.00:16.26,0.00:56.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,4.8:0,0:0,0:98,116:52,34:38,23:NM_172069.3(PLEKHH2) c.3123+46T>C,-:0.19,-:0.193645,- 2 43968183 . G . . NT END=43969879;NT GT ./. 2 43970058 . G . . NT END=43970972;NT GT ./. 2 43970252 rs10211045 A T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8089,T/0.1911;Gene=PLEKHH2/NM_172069.3/1;CC=c.3399+195A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,T:6:0:0:0:2,4:56,111:0.00,11.35:0.00,0.00:0.00,11.35:0.00,0.93:0.00,0.00:0.00,0.93:60,60:40.0,57.5:0,0:0,0:85,86:65,65:29,7:-,NM_172069.3(PLEKHH2) c.3399+195A>T:-,0.18:-,NOT_FOUND 2 43970253 rs6544700 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6755,T/0.3245;PC=0.001;Gene=PLEKHH2/NM_172069.3/1;CC=c.3399+196C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,T:6:0:0:0:1,5:8,153:0.54,17.29:0.00,0.00:0.54,17.29:0.00,0.99:0.00,0.00:0.00,0.99:60,60:33.0,55.4:0,0:0,0:92,82:59,69:0,25:NM_172069.3(PLEKHH2) c.3399+196C>T,NM_172069.3(PLEKHH2) c.3399+196C>T:0.31,0.31:NOT_FOUND,NOT_FOUND 2 43971261 . A . . NT END=43973004;NT GT ./. 2 43973103 . G . . NT END=43980757;NT GT ./. 2 43980631 rs17336182 T C 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8946,C/0.1054;PC=0.012;Gene=PLEKHH2/NM_172069.3/1;CC=c.3654-127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,T:10:10:0:0:6,4:210,127:20.94,0.00:21.14,0.00:-0.20,0.00:0.99,0.00:0.99,0.00:0.73,0.00:60,60:38.7,0.0:0,0:0,0:37,36:114,113:25,31:NM_172069.3(PLEKHH2) c.3654-127T>C,-:0.1,-:NOT_FOUND,- 2 43980900 . G . . NT END=43984257;NT GT ./. 2 43984404 . G . . NT END=43986038;NT GT ./. 2 43984561 . CT C 17 idl,rn VT=DEL;SST=Single;DP=21;Gene=PLEKHH2/NM_172069.3/1;CC=c.3941+173delT;VC=Intron;DM=PLEKHH2/FERM_M;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CT,T,I,C:18:1:5:8:7,1,4,6:225,11,163,253:0.00,0.27,11.38,17.47:0.00,0.42,0.00,0.00:0.00,-0.15,11.38,17.47:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.52:0.00,0.00,0.00,1.00:60,60,60,60:23.4,33.0,0.0,10.0:1,0,1,2:0,0,0,0:126,89,115,75:24,26,36,74:19,0,6,25:-,NM_172069.3(PLEKHH2) c.3941+159delT:-,NOT_FOUND:-,NOT_FOUND 2 43985940 rs7570252 C A 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6683,A/0.3317;Gene=PLEKHH2/NM_172069.3/1;CC=c.3942-99C>A;VC=Intron;DM=PLEKHH2/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:21:0:0:12,9:361,282:35.58,0.00:35.94,0.00:-0.37,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:49.8,22.1:0,0:0,0:52,80:98,71:30,41:NM_172069.3(PLEKHH2) c.3942-99C>A,-:0.28,-:NOT_FOUND,- 2 43986169 . G . . NT END=43989442;NT GT ./. 2 43989530 . G . . NT END=43991366;NT GT ./. 2 43991310 rs10205936 C T 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5497,T/0.4503;Gene=PLEKHH2/NM_172069.3/1;CC=c.4159-57C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:17:17:0:0:9,1,7:307,10,209:0.00,0.17,19.46:0.00,0.18,17.83:0.00,-0.01,1.63:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.71:60,60,60:11.1,124.0,69.4:0,0,0:0,0,0:59,88,34:92,59,117:21,0,32:-,NM_172069.3(PLEKHH2) c.4159-57C>T:-,0.39:-,NOT_FOUND 2 43991357 rs7565517 A C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2524,C/0.7476;PC=0.996;Gene=PLEKHH2/NM_172069.3/1;CC=c.4159-10A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:21:0:0:14,8:461,281:0.00,25.65:0.00,19.07:0.00,6.59:0.00,0.99:0.00,1.00:0.00,0.97:60,60:19.6,60.5:0,0:0,0:67,54:62,96:38,18:-,NM_172069.3(PLEKHH2) c.4159-10A>C:-,0.71:-,0.824669 2 43991505 . G . . NT END=43992551;NT GT ./. 2 43992738 . A . . NT END=44001277;NT GT ./. 2 44001286 . G . . NT END=44003920;NT GT ./. 2 44004010 rs2288709 T C 93 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.4868,C/0.5132,G/.;PC=1.000;Gene=DYNC2LI1/NM_015522.3/0;CC=c.98T>C;ProtCh=p.F33S;VC=Missense;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.98T>C;ProtCh=p.F33S;VC=Missense;Gene=DYNC2LI1/NM_016008.3/0;CC=c.98T>C;ProtCh=p.F33S;VC=Missense;DM=DYNC2LI1/DLIC;DM=DYNC2LI1/DLIC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:21:0:0:26,13:911,434:92.72,0.00:35.12,0.00:57.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,2.3:0,0:0,0:96,101:51,49:20,36:NM_001193464.1(DYNC2LI1) c.98T>C (p.Phe33Ser),-:0.45,-:0.518222,- 2 44004039 . G . . NT END=44010658;NT GT ./. 2 44010620 rs3815995 G A 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.5561,A/0.4439;PC=0.907;Gene=DYNC2LI1/NM_015522.3/0;CC=c.127-39G>A;VC=Intron;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.127-39G>A;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.127-39G>A;VC=Intron;DM=DYNC2LI1/DLIC;DM=DYNC2LI1/DLIC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:17:0:0:10,14:315,452:29.18,0.00:11.23,0.00:17.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:31.5,4.3:0,0:0,0:53,61:96,89:19,16:NM_001193464.1(DYNC2LI1) c.127-39G>A,-:0.4,-:0.434451,- 2 44010694 . G . . NT END=44014319;NT GT ./. 2 44014301 rs3765000 A G 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.8454,G/0.1546;Gene=DYNC2LI1/NM_015522.3/0;CC=c.162-19A>G;VC=Intron;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.162-19A>G;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.162-19A>G;VC=Intron;DM=DYNC2LI1/DLIC;DM=DYNC2LI1/DLIC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:30:0:0:15,17:496,535:0.00,51.99:0.00,35.42:0.00,16.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,34.9:0,0:0,0:75,36:75,108:27,17:-,NM_001193464.1(DYNC2LI1) c.162-19A>G:-,0.15:-,0.118253 2 44014390 . G . . NT END=44016771;NT GT ./. 2 44016602 rs2288705 G A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7923,A/0.2077;Gene=DYNC2LI1/NM_015522.3/0;CC=c.232-170G>A;VC=Intron;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.232-170G>A;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.232-170G>A;VC=Intron;DM=DYNC2LI1/DLIC;DM=DYNC2LI1/DLIC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:4:4:0:0:2,2:68,69:6.55,0.00:6.55,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:65.5,0.0:0,0:0,0:98,70:52,80:38,35:NM_001193464.1(DYNC2LI1) c.232-170G>A,-:0.2,-:NOT_FOUND,- 2 44016861 . G . . NT END=44021595;NT GT ./. 2 44016885 rs3815994 C G 74 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7853,G/0.2147;Gene=DYNC2LI1/NM_015522.3/0;CC=c.320+25C>G;VC=Intron;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.320+25C>G;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.320+25C>G;VC=Intron;DM=DYNC2LI1/DLIC;DM=DYNC2LI1/DLIC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:42:23:0:0:20,22:644,757:0.00,73.57:0.00,26.18:0.00,47.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,37.4:0,0:0,0:97,94:53,41:36,22:-,NM_001193464.1(DYNC2LI1) c.320+25C>G:-,0.2:-,0.167846 2 44021407 rs3749063 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8444,G/0.1556;PC=0.002;Gene=DYNC2LI1/NM_015522.3/0;CC=c.321-189A>G;VC=Intron;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.321-189A>G;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.321-189A>G;VC=Intron;DM=DYNC2LI1/DLIC;DM=DYNC2LI1/DLIC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:6:6:0:0:2,4:33,144:0.00,14.72:0.00,14.72:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:79.0,36.0:0,0:0,0:75,73:75,76:15,22:-,NM_001193464.1(DYNC2LI1) c.321-189A>G:-,0.15:-,NOT_FOUND 2 44021826 rs9309107 T A 143 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.5483,A/0.4517;Gene=DYNC2LI1/NM_015522.3/0;CC=c.551T>A;ProtCh=p.F184Y;VC=Missense;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.507+44T>A;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.507+44T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:99:56:0:0:47,52:1506,1656:143.27,0.00:66.17,0.00:77.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,6.1:0,0:0,0:69,78:79,72:31,32:NM_001193464.1(DYNC2LI1) c.507+44T>A,-:0.4,-:0.441565,- 2 44022319 . C . . NT END=44023025;NT GT ./. 2 44022512 rs7569333 A G 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7815,G/0.2185;PC=0.001;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.508-514A>G;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.508-517A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,G:12:2:0:0:7,5:208,157:0.00,14.55:0.00,4.84:0.00,9.70:0.00,0.92:0.00,0.72:0.00,0.99:60,60:17.3,40.0:0,0:0,0:70,110:81,40:41,4:-,NM_001193464.1(DYNC2LI1) c.508-514A>G:-,0.21:-,NOT_FOUND 2 44022591 rs72794897 C T 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.886,T/0.114;PC=0.012;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.508-435C>T;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.508-438C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:9:0:0:0:5,4:128,128:0.00,12.06:0.00,0.00:0.00,12.06:0.00,0.85:0.00,0.00:0.00,0.85:60,60:11.2,47.8:0,0:0,0:104,56:46,93:33,6:-,NM_001193464.1(DYNC2LI1) c.508-435C>T:-,0.11:-,NOT_FOUND 2 44023098 . G . . NT END=44023856;NT GT ./. 2 44023935 . G . . NT END=44027979;NT GT ./. 2 44027948 rs3792013 G A 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8904,A/0.1096;PC=0.030;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.658-32G>A;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.655-32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:23:0:0:9,17:284,568:25.41,0.00:20.91,0.00:4.50,0.00:0.99,0.00:1.00,0.00:0.97,0.00:60,60:34.0,1.4:0,0:0,0:25,60:126,89:21,21:NM_001193464.1(DYNC2LI1) c.658-32G>A,-:0.11,-:0.075893,- 2 44028057 . G . . NT END=44028777;NT GT ./. 2 44028180 rs13432783 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8187,T/0.1813;PC=0.468;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.734+124C>T;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.731+124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:C,T:13:0:0:0:7,6:242,171:0.00,16.04:0.00,0.00:0.00,16.04:0.00,0.97:0.00,0.00:0.00,0.97:60,60:1.7,50.0:0,0:0,0:84,115:66,25:28,16:-,NM_001193464.1(DYNC2LI1) c.734+124C>T:-,0.17:-,NOT_FOUND 2 44028849 . G . . NT END=44031780;NT GT ./. 2 44031879 . G . . NT END=44032292;NT GT ./. 2 44032084 rs2116547 G C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.744,C/0.256;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.903+206G>C;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.900+206G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,G:9:6:0:0:4,5:140,155:13.22,0.00:10.01,0.00:3.22,0.00:0.85,0.00:0.96,0.00:0.84,0.00:60,60:43.2,6.2:0,0:0,0:86,29:64,122:9,23:NM_001193464.1(DYNC2LI1) c.903+206G>C,-:0.22,-:NOT_FOUND,- 2 44032386 . G . . NT END=44036843;NT GT ./. 2 44036689 rs4953018 A G 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.7408,G/0.2592;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.997-155A>G;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.994-155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:20:0:0:11,9:369,282:0.00,26.52:0.00,26.52:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.4,45.0:0,0:0,0:69,64:80,87:36,32:-,NM_001193464.1(DYNC2LI1) c.997-155A>G:-,0.23:-,NOT_FOUND 2 44036800 rs4952683 A G 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.7137,G/0.2863;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.997-44A>G;VC=Intron;Gene=DYNC2LI1/NM_016008.3/0;CC=c.994-44A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:34:0:0:23,16:735,498:0.00,45.94:0.00,35.25:0.00,10.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,63.8:0,0:0,0:47,47:102,103:26,27:-,NM_001193464.1(DYNC2LI1) c.997-44A>G:-,0.26:-,0.261248 2 44036922 rs10186552 T C 83 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.7444,C/0.2556;Gene=DYNC2LI1/NM_001193464.1/1;CC=c.*16T>C;VC=3UTR;Gene=DYNC2LI1/NM_016008.3/0;CC=c.*16T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:33:0:0:27,32:878,1030:83.01,0.00:39.37,0.00:43.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,5.8:0,0:0,0:84,64:66,86:28,40:NM_001193464.1(DYNC2LI1) c.*16T>C,-:0.22,-:0.240681,- 2 44037150 . C . . NT END=44037519;NT GT ./. 2 44037333 rs3792009 G A 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.7512,A/0.2488 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:14:0:0:8,9:263,315:25.01,0.00:22.21,0.00:2.80,0.00:0.99,0.00:1.00,0.00:0.86,0.00:60,60:34.1,0.0:0,0:0,0:47,101:103,49:42,31:chr2 g.44037332G>A (intergenic),-:0.21,-:NOT_FOUND,- 2 44037488 rs3792008 A G 69 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.7608,G/0.2392 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:36:0:0:23,23:751,718:0.00,68.93:0.00,43.37:0.00,25.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,36.7:0,0:0,0:60,45:91,93:30,39:-,chr2 g.44037487A>G (intergenic):-,0.21:-,NOT_FOUND 2 44037649 . C . . NT END=44040335;NT GT ./. 2 44040401 rs6720173 G C 91 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.76,C/0.24;PC=1.000;Gene=ABCG5/NM_022436.2/1;CC=c.1810C>G;ProtCh=p.Q604E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:40:32:0:0:26,14:896,471:90.76,0.00:50.86,0.00:39.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,8.6:0,0:0,0:56,63:83,83:23,19:NM_022436.2(ABCG5) c.1810C>G (p.Gln604Glu),-:0.21,-:0.210288,- 2 44040449 . C . . NT END=44041615;NT GT ./. 2 44041729 . C . . NT END=44047053;NT GT ./. 2 44047240 . C . . NT END=44049639;NT GT ./. 2 44047530 rs4148189 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7262,T/0.2738;Gene=ABCG5/NM_022436.2/1;CC=c.1464-291G>A;VC=Intron;DM=ABCG5/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,T:4:0:0:0:2,2:38,70:0.00,6.78:0.00,0.00:0.00,6.78:0.00,0.51:0.00,0.00:0.00,0.51:60,60:4.5,35.0:0,0:0,0:78,85:73,65:51,25:-,NM_022436.2(ABCG5) c.1464-291G>A:-,0.25:-,NOT_FOUND 2 44049617 rs7423086 G C 66 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3866,C/0.6134;Gene=ABCG5/NM_022436.2/1;CC=c.1463+319C>G;VC=Intron;DM=ABCG5/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,C,G:28:27:0:0:1,22,5:11,612,87:0.27,66.32,0.00:0.28,51.86,0.00:-0.01,14.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:194.0,60.8,44.0:1,11,3:0,0,0:129,79,38:-6,65,113:0,46,33:NM_022436.2(ABCG5) c.1463+319C>G,-:0.74,-:NOT_FOUND,- 2 44049618 . C CG 26 nt VT=INS;SST=Single;DP=31;NP=13;NP=151;Gene=ABCG5/NM_022436.2/1;CC=c.1463+317_1463+318insC;VC=Intron;DM=ABCG5/ABC2_membrane;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CG:31:29:11:0:20,11:558,292:0.00,25.70:0.00,21.96:0.00,3.74:0.00,1.00:0.00,1.00:0.00,0.98:60,60:42.2,96.5:6,0:0,0:67,45:83,80:55,26:-,NM_022436.2(ABCG5) c.1463+317_1463+318insC:-,NOT_FOUND:-,NOT_FOUND 2 44049744 . C . . NT END=44049935;NT GT ./. 2 44050075 . C . . NT END=44051051;NT GT ./. 2 44050888 rs4148187 G A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5377,A/0.4623;Gene=ABCG5/NM_022436.2/1;CC=c.1324+164C>T;VC=Intron;DM=ABCG5/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:9,9:273,273:26.15,0.00:26.15,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.0,3.2:0,0:0,0:30,20:121,129:27,20:NM_022436.2(ABCG5) c.1324+164C>T,-:0.44,-:NOT_FOUND,- 2 44051258 . C . . NT END=44051357;NT GT ./. 2 44051572 . C . . NT END=44051703;NT GT ./. 2 44051781 . G . . NT END=44052027;NT GT ./. 2 44052158 . C . . NT END=44053520;NT GT ./. 2 44053305 . CT C 13 rn VT=DEL;SST=Single;DP=21;NP=3;PC=0.020;Gene=ABCG5/NM_022436.2/1;CC=c.774+215delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:CT,C:21:21:0:5:16,5:489,154:0.00,12.78:0.00,12.78:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:42.7,39.6:0,0:0,0:46,42:104,109:41,20:-,NM_022436.2(ABCG5) c.774+215delA:-,NOT_FOUND:-,NOT_FOUND 2 44053661 . C . . NT END=44055121;NT GT ./. 2 44054991 rs56266464 G A 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9347,A/0.0653;Gene=ABCG5/NM_022436.2/1;CC=c.634+131C>T;VC=Intron;DM=ABCG5/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:34:0:0:17,19:501,647:47.36,0.00:43.51,0.00:3.85,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:43.5,12.0:0,0:0,0:29,68:122,82:21,25:NM_022436.2(ABCG5) c.634+131C>T,-:0.07,-:NOT_FOUND,- 2 44055255 . C . . NT END=44058907;NT GT ./. 2 44055446 rs4557032 G A 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.5683,A/0.4317;Gene=ABCG5/NM_022436.2/1;CC=c.502-192C>T;VC=Intron;DM=ABCG5/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:9,11:272,367:25.48,0.00:0.00,0.00:25.48,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:47.1,21.5:0,0:0,0:112,110:39,41:10,24:NM_022436.2(ABCG5) c.502-192C>T,-:0.41,-:NOT_FOUND,- 2 44055510 rs114938914 C T 13 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9297,T/0.07029;PC=0.001;Gene=ABCG5/NM_022436.2/1;CC=c.502-256G>A;VC=Intron;DM=ABCG5/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T:8:1:0:0:3,5:80,128:0.00,12.83:0.00,1.01:0.00,11.82:0.00,0.97:0.00,0.75:0.00,1.00:60,60:83.0,46.0:0,0:0,0:105,148:45,3:7,2:-,NM_022436.2(ABCG5) c.502-256G>A:-,0.08:-,NOT_FOUND 2 44055527 rs4549146 T C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3764,C/0.6236;PC=0.013;Gene=ABCG5/NM_022436.2/1;CC=c.502-273A>G;VC=Intron;DM=ABCG5/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:159:18.28:3.38:14.91:1.00:1.00:1.00:60:76.2:0:0:122:28:10:NM_022436.2(ABCG5) c.502-273A>G,NM_022436.2(ABCG5) c.502-273A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 44059007 . C . . NT END=44059085;NT GT ./. 2 44059223 . C . . NT END=44064972;NT GT ./. 2 44065090 rs6756629 G A 187 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.9329,A/0.06709,C/.;PC=0.841;Gene=ABCG5/NM_022436.2/1;CC=c.148C>T;ProtCh=p.R50C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:69:0:0:57,63:1958,1925:186.98,0.00:66.60,0.00:120.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,8.8:0,0:0,0:70,56:77,93:47,32:NM_022436.2(ABCG5) c.148C>T (p.Arg50Cys),-:0.07,-:0.066662,- 2 44065095 . C . . NT END=44065675;NT GT ./. 2 44065900 . G . . NT END=44066192;NT GT ./. 2 44066174 rs3806471 T G 120 nt VT=SNV;PN=G;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.5106,A/.,G/0.4894;Gene=ABCG8/NM_022437.2/1;CC=c.-19T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:75:65:0:0:39,36:1237,1162:119.69,0.00:63.07,0.00:56.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.2,31.9:0,0:0,0:29,52:112,95:19,25:NM_022437.2(ABCG8) c.-19T>G,-:0.47,-:0.292072,- 2 44066247 rs11887534 G C 160 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=G/0.9395,A/.,C/0.0605;PC=1.000;Gene=ABCG8/NM_022437.2/1;CC=c.55G>C;ProtCh=p.D19H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:96:64:0:0:48,48:1663,1611:160.29,0.00:54.89,0.00:105.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,34.0:0,0:0,0:77,85:67,52:32,24:NM_022437.2(ABCG8) c.55G>C (p.Asp19His),-:0.06,-:0.054216,- 2 44066256 . G . . NT END=44071645;NT GT ./. 2 44071625 rs4148209 C A 62 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.5655,A/0.4345;PC=0.107;Gene=ABCG8/NM_022437.2/1;CC=c.64-21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:41:35:0:0:22,19:637,627:61.85,0.00:42.86,0.00:18.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.1,12.2:0,0:0,0:62,43:86,105:35,39:NM_022437.2(ABCG8) c.64-21C>A,-:0.44,-:0.319775,- 2 44071639 rs4148210 C T 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.484,T/0.516;Gene=ABCG8/NM_022437.2/1;CC=c.64-7C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:36:0:0:21,25:689,750:0.00,73.08:0.00,44.35:0.00,28.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,75.8:0,0:0,0:45,55:106,90:29,32:-,NM_022437.2(ABCG8) c.64-7C>T:-,0.51:-,0.393895 2 44071743 rs4148211 A G 54 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5653,G/0.4347;PC=1.000;Gene=ABCG8/NM_022437.2/1;CC=c.161A>G;ProtCh=p.Y54C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:24:0:0:22,18:643,572:0.00,53.82:0.00,22.54:0.00,31.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,71.7:0,0:0,0:115,95:30,56:22,20:-,NM_022437.2(ABCG8) c.161A>G (p.Tyr54Cys):-,0.44:-,0.320852 2 44071748 . G . . NT END=44073293;NT GT ./. 2 44071833 rs4148212 A C 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.485,C/0.515;Gene=ABCG8/NM_022437.2/1;CC=c.165+86A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:0:0:0:7,12:224,336:0.00,33.86:0.00,0.00:0.00,33.86:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.0,93.0:0,0:0,0:93,70:58,80:27,32:-,NM_022437.2(ABCG8) c.165+86A>C:-,0.47:-,NOT_FOUND 2 44071852 rs4148213 G C 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4838,C/0.5162;Gene=ABCG8/NM_022437.2/1;CC=c.165+105G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:C,G:15:0:0:0:9,6:270,187:26.91,0.00:0.00,0.00:26.91,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:87.4,21.0:0,0:0,0:81,104:70,47:24,25:NM_022437.2(ABCG8) c.165+105G>C,-:0.51,-:NOT_FOUND,- 2 44073451 . G . . NT END=44078722;NT GT ./. 2 44073656 rs41360247 T C 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9241,C/0.07588;Gene=ABCG8/NM_022437.2/1;CC=c.322+206T>C;VC=Intron;DM=ABCG8/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,T:17:0:0:0:12,5:382,163:39.45,0.00:0.00,0.00:39.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.9,0.0:0,0:0,0:116,127:34,21:21,16:NM_022437.2(ABCG8) c.322+206T>C,-:0.08,-:NOT_FOUND,- 2 44078577 rs142558447 C T 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.9992,T/0.0007987;Gene=ABCG8/NM_022437.2/1;CC=c.323-146C>T;VC=Intron;DM=ABCG8/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:33:0:0:23,10:658,344:0.00,30.40:0.00,30.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.3,46.3:0,0:0,0:28,59:121,91:21,23:-,NM_022437.2(ABCG8) c.323-146C>T:-,0.0014:-,NOT_FOUND 2 44078853 rs56132765 G A 229 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=G/0.9369,A/0.0631,C/.;PC=1.000;Gene=ABCG8/NM_022437.2/1;CC=c.453G>A;ProtCh=p.V151=;VC=Silent;DM=ABCG8/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:176:114:0:0:78,97,1:2441,3309,10:229.02,0.00,-0.19:109.71,0.00,-0.04:119.30,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.1,10.3,33.0:0,0,0:0,0,0:83,90,126:62,61,25:42,26,0:NM_022437.2(ABCG8) c.453G>A (p.(=)),-:0.07,-:0.06743,- 2 44078962 . G . . NT END=44079492;NT GT ./. 2 44079004 rs4148214 T C 178 nt VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.3163,C/0.6837;Gene=ABCG8/NM_022437.2/1;CC=c.561+43T>C;VC=Intron;DM=ABCG8/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:C,T:50:5:0:0:49,1:1558,7:177.67,0.00:11.12,0.00:166.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.1,17.0:0,0:0,0:112,127:39,24:37,0:NM_022437.2(ABCG8) c.561+43T>C,NM_022437.2(ABCG8) c.561+43T>C:0.65,0.65:0.594879,0.594879 2 44079310 rs72875462 C A 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.9058,A/0.09425;Gene=ABCG8/NM_022437.2/1;CC=c.562-183C>A;VC=Intron;DM=ABCG8/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:27:0:0:16,13:521,345:51.11,0.00:51.78,0.00:-0.67,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:44.4,15.8:0,0:0,0:37,45:113,106:22,29:NM_022437.2(ABCG8) c.562-183C>A,-:0.09,-:NOT_FOUND,- 2 44079626 . G . . NT END=44079737;NT GT ./. 2 44080008 . G . . NT END=44099114;NT GT ./. 2 44098855 rs3795860 T C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4818,C/0.5182;Gene=ABCG8/NM_022437.2/1;CC=c.965-260T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:6:6:0:0:3,3:75,106:7.09,0.00:7.09,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:98.7,0.0:0,0:0,0:66,41:85,110:33,28:NM_022437.2(ABCG8) c.965-260T>C,-:0.51,-:NOT_FOUND,- 2 44099278 . G . . NT END=44099361;NT GT ./. 2 44099446 . G . . NT END=44100925;NT GT ./. 2 44101126 . G . . NT END=44101545;NT GT ./. 2 44101214 rs10709506 CA C 122 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=CA/0.0651,C/0.9349;NP=3302;Gene=ABCG8/NM_022437.2/1;CC=c.1411+90delA;VC=Intron;DM=ABCG8/ABC2_membrane;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:CA,C:35:7:0:35:1,34:15,1072:0.00,121.57:0.00,10.77:0.00,110.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:108.0,12.0:0,0:0,0:148,117:3,33:0,23:NM_022437.2(ABCG8) c.1411+90delA,NM_022437.2(ABCG8) c.1411+90delA:0.91,0.91:NOT_FOUND,NOT_FOUND 2 44101394 rs4953027 A G 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1893,G/0.8107;PC=0.003;Gene=ABCG8/NM_022437.2/1;CC=c.1412-152A>G;VC=Intron;DM=ABCG8/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:4:0:0:9:245:28.72:12.86:15.85:1.00:1.00:1.00:60:66.4:0:0:73:77:59:NM_022437.2(ABCG8) c.1412-152A>G,NM_022437.2(ABCG8) c.1412-152A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 2 44101430 rs4952689 T G 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=ABCG8/NM_022437.2/1;CC=c.1412-116T>G;VC=Intron;DM=ABCG8/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:10:0:0:12:366:42.28:34.33:7.95:1.00:1.00:1.00:60:65.5:0:0:28:122:12:NM_022437.2(ABCG8) c.1412-116T>G,NM_022437.2(ABCG8) c.1412-116T>G:0.54,0.54:NOT_FOUND,NOT_FOUND 2 44101537 . A AT 25 nt VT=INS;SST=Single;DP=33;NP=711;Gene=ABCG8/NM_022437.2/1;CC=c.1412-9_1412-8insT;VC=Intron;DM=ABCG8/ABC2_membrane;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:33:30:9:1:23,9,1:680,285,21:0.00,24.55,0.78:0.00,14.57,0.90:0.00,9.97,-0.11:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:9.3,44.1,46.0:0,0,1:0,0,0:45,57,64:103,93,85:26,29,0:-,NM_022437.2(ABCG8) c.1412-9_1412-8insT:-,NOT_FOUND:-,NOT_FOUND 2 44101538 rs543743001 C T 26 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.235,T/0.765;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ABCG8/NM_022437.2/1;CC=c.1412-8C>T;VC=Intron;DM=ABCG8/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:29:0:1:24,9:778,300:0.00,25.90:0.00,15.55:0.00,10.35:0.00,0.99:0.00,1.00:0.00,0.99:60,60:11.8,42.6:0,9:0,0:40,59:109,91:20,36:-,NM_022437.2(ABCG8) c.1412-8C>T:-,0.74:-,NOT_FOUND 2 44101623 . G . . NT END=44102284;NT GT ./. 2 44101649 rs3841852 G GC 49 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.261,GAC/.,GC/0.3157,GCC/0.2963,GCCC/0.1242,GCCCC/0.002196,GCT/0.000599;NP=1;NP=1092;NP=174;NP=211;PC=0.003;Gene=ABCG8/NM_022437.2/1;CC=c.1488+33dupC;VC=Intron;DM=ABCG8/ABC2_membrane;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:G,GC:21:14:19:0:6,15:172,587:0.00,48.95:0.00,16.12:0.00,32.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,21.2:1,4:0,0:143,111:4,39:5,15:-,NM_022437.2(ABCG8) c.1488+27_1488+28insC:-,NOT_FOUND:-,NOT_FOUND 2 44101711 rs13405698 T C 16 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8339,C/0.1661;PC=0.001;Gene=ABCG8/NM_022437.2/1;CC=c.1488+89T>C;VC=Intron;DM=ABCG8/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,T:10:3:0:0:6,4:157,142:15.63,0.00:-0.79,0.00:16.43,0.00:0.99,0.00:0.94,0.00:1.00,0.00:60,60:27.8,11.5:0,0:0,0:138,136:11,14:6,3:NM_022437.2(ABCG8) c.1488+89T>C,-:0.17,-:NOT_FOUND,- 2 44101827 rs4953028 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2879,A/0.7121;Gene=ABCG8/NM_022437.2/1;CC=c.1488+205G>A;VC=Intron;DM=ABCG8/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:0:0:0:3,2:101,69:10.07,0.00:0.00,0.00:10.07,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:33.7,0.0:0,0:0,0:105,70:46,79:10,8:NM_022437.2(ABCG8) c.1488+205G>A,-:0.66,-:NOT_FOUND,- 2 44102235 rs4148220 T C 146 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.6779,C/0.3221;Gene=ABCG8/NM_022437.2/1;CC=c.1489-50T>C;VC=Intron;DM=ABCG8/ABC2_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:99:91:0:0:47,52:1534,1705:146.04,0.00:103.77,0.00:42.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,13.4:0,0:0,0:47,46:101,93:31,33:NM_022437.2(ABCG8) c.1489-50T>C,-:0.27,-:0.182839,- 2 44102553 . G . . NT END=44104699;NT GT ./. 2 44104828 . G . . NT END=44104914;NT GT ./. 2 44104925 rs6544718 T C 194 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=T/0.07708,C/0.9229,G/.;Gene=ABCG8/NM_022437.2/1;CC=c.1895T>C;ProtCh=p.V632A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:147:89:0:0:64,1,82:2071,24,2632:194.06,0.55,0.00:88.80,0.69,0.00:105.26,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.0,153.0,9.2:0,0,0:0,0,0:82,54,78:64,64,66:26,0,29:NM_022437.2(ABCG8) c.1895T>C (p.Val632Ala),-:0.89,-:0.837229,- 2 44105053 . T . . NT END=44115738;NT GT ./. 2 44115796 . C . . NT END=44116872;NT GT ./. 2 44116100 rs10445885 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2692,T/0.7308;Gene=LRPPRC/NM_133259.3/1;CC=c.4129-305G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:C,T:7:0:0:0:2,5:56,172:0.00,17.77:0.00,0.00:0.00,17.77:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,34.4:0,0:0,0:128,73:22,78:7,31:-,NM_133259.3(LRPPRC) c.4129-305G>A:-,0.71:-,NOT_FOUND 2 44116836 rs2955280 C T 130 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.2562,T/0.7438;Gene=LRPPRC/NM_133259.3/1;CC=c.4128+37G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C,T:40:36:0:0:1,39:10,1131:0.00,129.87:0.00,98.01:0.00,31.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:207.0,39.9:0,0:0,0:45,41:105,104:0,22:NM_133259.3(LRPPRC) c.4128+37G>A,NM_133259.3(LRPPRC) c.4128+37G>A:0.72,0.72:0.598493,0.598493 2 44117016 . C . . NT END=44121683;NT GT ./. 2 44121769 . C . . NT END=44123772;NT GT ./. 2 44121928 rs17496251 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9257,C/0.07428;Gene=LRPPRC/NM_133259.3/1;CC=c.3901-160A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:6:0:0:0:4,2:136,65:13.85,0.00:0.00,0.00:13.85,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:48.5,0.0:0,0:0,0:133,102:17,48:12,41:NM_133259.3(LRPPRC) c.3901-160A>G,-:0.06,-:NOT_FOUND,- 2 44123672 rs3839036 TC T 34 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TC/0.3588,T/0.6412;NP=1771;Gene=LRPPRC/NM_133259.3/1;CC=c.3900+100delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:TC,T:14:14:0:10:4,10:131,326:0.00,33.73:0.00,33.73:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:33.8,0.9:0,0:0,0:37,42:112,109:20,28:-,NM_133259.3(LRPPRC) c.3900+100delG:-,0.64:-,NOT_FOUND 2 44123758 rs76850904 G A 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9141,A/0.08586;PC=0.001;Gene=LRPPRC/NM_133259.3/1;CC=c.3900+15C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:20:0:0:11,17:371,567:34.20,0.00:20.56,0.00:13.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:41.5,5.4:0,0:0,0:33,66:118,85:17,29:NM_133259.3(LRPPRC) c.3900+15C>T,-:0.06,-:0.103183,- 2 44123848 . C . . NT END=44126357;NT GT ./. 2 44126474 . C . . NT END=44126604;NT GT ./. 2 44126745 . C . . NT END=44128458;NT GT ./. 2 44128664 . C . . NT END=44132830;NT GT ./. 2 44128912 rs4953032 C T 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3572,T/0.6428;Gene=LRPPRC/NM_133259.3/1;CC=c.3365-249G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:0:0:0:3,2:93,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:60,60:7.3,45.0:0,0:0,0:75,92:75,58:6,34:-,NM_133259.3(LRPPRC) c.3365-249G>A:-,0.64:-,NOT_FOUND 2 44132920 . C . . NT END=44139570;NT GT ./. 2 44139474 rs17424482 A G 49 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.9299,G/0.07009;PC=0.004;Gene=LRPPRC/NM_133259.3/1;CC=c.3275+97T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:32:0:0:17,18:581,508:0.00,48.77:0.00,42.89:0.00,5.88:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.5,44.7:0,0:0,0:40,68:111,82:18,33:-,NM_133259.3(LRPPRC) c.3275+97T>C:-,0.05:-,NOT_FOUND 2 44139698 . C . . NT END=44145163;NT GT ./. 2 44145273 . C . . NT END=44145394;NT GT ./. 2 44145374 rs7568481 G T 111 nt VT=SNV;PN=C;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.3454,A/.,T/0.6546;Gene=LRPPRC/NM_133259.3/1;CC=c.3039+21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:69:39:0:0:34,35:1073,1147:0.00,110.68:0.00,53.82:0.00,56.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,41.1:0,0:0,0:42,66:101,82:20,36:-,NM_133259.3(LRPPRC) c.3039+21C>A:-,0.65:-,0.486698 2 44145538 . C . . NT END=44152205;NT GT ./. 2 44145799 rs4953036 C T 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5226,T/0.4774;PC=0.003;Gene=LRPPRC/NM_133259.3/1;CC=c.2897-262G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:7:0:0:0:2,5:67,163:0.00,16.87:0.00,0.00:0.00,16.87:0.00,0.98:0.00,0.00:0.00,0.98:60,60:41.5,37.0:0,0:0,0:66,100:85,51:22,20:-,NM_133259.3(LRPPRC) c.2897-262G>A:-,0.47:-,NOT_FOUND 2 44152058 rs62138280 A G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9307,G/0.06929;PC=0.007;Gene=LRPPRC/NM_133259.3/1;CC=c.2896+148T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,G:5:5:0:0:1,4:26,138:0.00,14.62:0.00,14.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,50.2:0,0:0,0:54,32:97,117:0,10:-,NM_133259.3(LRPPRC) c.2896+148T>C:-,0.05:-,NOT_FOUND 2 44152180 rs4952694 G A 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.248,A/0.752;Gene=LRPPRC/NM_133259.3/1;CC=c.2896+26C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:15:0:0:18:535:62.04:51.12:10.92:1.00:1.00:1.00:60:49.3:0:0:65:86:44:NM_133259.3(LRPPRC) c.2896+26C>T,NM_133259.3(LRPPRC) c.2896+26C>T:0.72,0.72:0.592726,0.592726 2 44152297 . C . . NT END=44153031;NT GT ./. 2 44152406 rs4953039 G T 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2734,T/0.7266;Gene=LRPPRC/NM_133259.3/1;CC=c.2806-110C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:389:45.49:0.00:45.49:1.00:0.00:1.00:60:43.6:0:0:79:69:37:NM_133259.3(LRPPRC) c.2806-110C>A,NM_133259.3(LRPPRC) c.2806-110C>A:0.7,0.7:NOT_FOUND,NOT_FOUND 2 44152995 rs62138281 C G 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9289,G/0.07109,T/.;PC=0.122;Gene=LRPPRC/NM_133259.3/1;CC=c.2805+37G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:19:0:0:12,8:417,259:0.00,23.85:0.00,16.99:0.00,6.86:0.00,0.99:0.00,1.00:0.00,0.96:60,60:5.8,35.1:0,0:0,0:85,83:61,67:24,41:-,NM_133259.3(LRPPRC) c.2805+37G>C:-,0.06:-,0.094034 2 44153101 . C . . NT END=44161328;NT GT ./. 2 44161436 . C . . NT END=44161892;NT GT ./. 2 44162018 . C . . NT END=44170825;NT GT ./. 2 44171034 . C . . NT END=44172470;NT GT ./. 2 44172444 rs28394191 A C 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.3924,C/0.6076,G/.;Gene=LRPPRC/NM_133259.3/1;CC=c.2296+27T>G;VC=Intron;DM=LRPPRC/PPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:35:0:0:22,21:698,633:0.00,60.36:0.00,45.50:0.00,14.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,36.9:0,0:0,0:42,45:102,105:28,23:-,NM_133259.3(LRPPRC) c.2296+27T>G:-,0.61:-,0.4494 2 44172557 . C . . NT END=44173251;NT GT ./. 2 44173087 rs66626626 CAATT C 16 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CAATT/0.5421,C/0.4579;DB;DBA=NA;PAF=CAATT/0.5421,C/0.4579;NP=595;Gene=LRPPRC/NM_133259.3/1;CC=c.2210+161_2210+164delAATT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:CAATT,C:9:9:0:5:4,5:135,166:0.00,16.30:0.00,16.30:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,0.0:0,0:0,0:48,31:102,119:15,8:-,NM_133259.3(LRPPRC) c.2210+161_2210+164delAATT:-,NOT_FOUND:-,NOT_FOUND 2 44173383 . C . . NT END=44174395;NT GT ./. 2 44173422 rs7594526 T G 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.3644,G/0.6356;Gene=LRPPRC/NM_133259.3/1;CC=c.2080-40A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:14:0:0:11,18:337,597:30.59,0.00:13.24,0.00:17.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,0.7:0,0:0,0:100,70:48,71:14,34:NM_133259.3(LRPPRC) c.2080-40A>C,-:0.62,-:0.474069,- 2 44174510 . C . . NT END=44174869;NT GT ./. 2 44174915 . C . . NT END=44175260;NT GT ./. 2 44175339 . C . . NT END=44175550;NT GT ./. 2 44175658 . C . . NT END=44176740;NT GT ./. 2 44176799 . C . . NT END=44177711;NT GT ./. 2 44177740 . C . . NT END=44184523;NT GT ./. 2 44177948 rs4245798 T C 17 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2045,C/0.7955;Gene=LRPPRC/NM_133259.3/1;CC=c.1650-209A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:143:16.64:1.89:14.75:1.00:1.00:1.00:60:50.8:0:0:97:53:42:NM_133259.3(LRPPRC) c.1650-209A>G,NM_133259.3(LRPPRC) c.1650-209A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 2 44184591 . C . . NT END=44187679;NT GT ./. 2 44187652 rs62135104 A G 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.9455,C/.,G/0.05451;PC=0.006;Gene=LRPPRC/NM_133259.3/1;CC=c.1582+28T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:22:0:0:13,12:423,361:0.00,34.23:0.00,20.99:0.00,13.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,30.9:0,0:0,0:66,55:82,95:35,33:-,NM_133259.3(LRPPRC) c.1582+28T>C:-,0.04:-,0.075746 2 44187774 . C . . NT END=44190726;NT GT ./. 2 44187829 rs10190161 A C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4694,C/0.5306,T/.;Gene=LRPPRC/NM_133259.3/1;CC=c.1489-56T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,C:13:4:0:0:5,8:175,261:0.00,26.15:0.00,7.33:0.00,18.83:0.00,1.00:0.00,0.98:0.00,1.00:60,60:0.0,32.6:0,0:0,0:84,129:67,22:57,8:-,NM_133259.3(LRPPRC) c.1489-56T>G:-,0.55:-,NOT_FOUND 2 44190846 . C . . NT END=44200745;NT GT ./. 2 44200854 . C . . NT END=44200933;NT GT ./. 2 44201040 . C . . NT END=44201288;NT GT ./. 2 44201376 rs4953042 T C 130 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=in-clinvar;PAF=T/0.7442,C/0.2558;Gene=LRPPRC/NM_133259.3/1;CC=c.1068A>G;ProtCh=p.Q356=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:43:0:0:39,25:1303,761:130.33,0.00:57.61,0.00:72.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,7.9:0,0:0,0:97,70:52,81:27,26:NM_133259.3(LRPPRC) c.1068A>G (p.(=)),-:0.23,-:0.115178,- 2 44201435 . C . . NT END=44201752;NT GT ./. 2 44201898 . C . . NT END=44202229;NT GT ./. 2 44202357 . C . . NT END=44203281;NT GT ./. 2 44203369 . C . . NT END=44204132;NT GT ./. 2 44204017 rs62135113 C G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9471,G/0.05292;Gene=LRPPRC/NM_133259.3/1;CC=c.650+116G>C;VC=Intron;DM=LRPPRC/PPR_3;DM=LRPPRC/PPR;DM=LRPPRC/PPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:13:12:0:0:7,6:190,205:0.00,19.50:0.00,15.86:0.00,3.64:0.00,0.97:0.00,1.00:0.00,0.64:60,60:10.1,38.8:0,0:0,0:72,91:79,60:28,19:-,NM_133259.3(LRPPRC) c.650+116G>C:-,0.04:-,NOT_FOUND 2 44204192 . C . . NT END=44204293;NT GT ./. 2 44204416 . C . . NT END=44206964;NT GT ./. 2 44207088 . C . . NT END=44209376;NT GT ./. 2 44209477 rs6741066 C T 66 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=in-clinvar;PAF=C/0.496,T/0.504;Gene=LRPPRC/NM_133259.3/1;CC=c.246G>A;ProtCh=p.Q82=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:29:0:0:25,22:843,692:0.00,65.57:0.00,22.89:0.00,42.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,33.6:0,0:0,0:80,77:60,65:22,42:-,NM_133259.3(LRPPRC) c.246G>A (p.(=)):-,0.52:-,0.724316 2 44209574 . C . . NT END=44222937;NT GT ./. 2 44222662 rs12712903 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.512,G/0.488;Gene=LRPPRC/NM_133259.3/1;CC=c.149+276T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,G:5:4:0:0:1,4:11,125:0.00,13.37:0.00,9.69:0.00,3.68:0.00,0.96:0.00,1.00:0.00,0.87:60,60:88.0,31.2:0,0:0,0:125,36:26,114:0,5:-,NM_133259.3(LRPPRC) c.149+276T>C:-,0.5:-,NOT_FOUND 2 44222881 rs62135152 C A 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9461,A/0.05391;Gene=LRPPRC/NM_133259.3/1;CC=c.149+57G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:35:0:0:23,14:741,399:74.46,0.00:57.57,0.00:16.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,30.4:0,0:0,0:35,54:116,81:20,32:NM_133259.3(LRPPRC) c.149+57G>T,-:0.05,-:NOT_FOUND,- 2 44223087 . T . . NT END=44428338;NT GT ./. 2 44223131 rs11124961 C T 96 nt VT=SNV;PN=A;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.9607,T/0.03934;PC=0.998;Gene=LRPPRC/NM_133259.3/1;CC=c.-45G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:41:0:0:44,34:1488,1028:0.00,95.81:0.00,26.78:0.00,69.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,42.1:0,0:0,0:97,107:48,39:27,30:-,NM_133259.3(LRPPRC) c.-45G>A:-,0.04:-,0.042614 2 44292977 rs7565605 C T 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5851,T/0.4149;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:18:0:0:18:572:65.78:58.13:7.65:1.00:1.00:1.00:60:34.4:0:0:28:122:17:chr2 g.44292976C>T (intergenic),chr2 g.44292976C>T (intergenic):0.4,0.4:NOT_FOUND,NOT_FOUND 2 44293372 rs200904908 G GT 12 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;PC=0.203;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:G,GT:8:2:5:0:4,4:104,158:0.00,11.89:0.00,3.12:0.00,8.77:0.00,0.85:0.00,0.74:0.00,0.85:60,60:36.5,47.8:0,1:0,0:114,88:37,63:13,21:-,chr2 g.44293372_44293373insT (intergenic):-,0.26:-,NOT_FOUND 2 44293377 rs1973051 G T 34 sb;idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.00619,T/0.9938;NP=381;PC=0.109 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:1:0:0:9:294:33.69:1.94:31.75:1.00:1.00:1.00:60:37.4:4:0:107:44:22:chr2 g.44293376G>T (intergenic),chr2 g.44293376G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 44298077 rs7567176 C T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1538,T/0.8462 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:198:22.66:11.28:11.38:1.00:1.00:1.00:60:69.7:0:0:22:86:15:chr2 g.44298076C>T (intergenic),chr2 g.44298076C>T (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 2 44298094 . TAC T 15 idl,rn VT=DEL;SST=Single;DP=11;NP=24;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:TAC,T:8:8:0:8:3,5:94,242:0.00,15.08:0.00,6.11:0.00,8.97:0.00,0.93:0.00,0.99:0.00,0.99:60,70:61.0,104.6:0,3:0,0:10,30:140,83:8,25:-,chr2 g.44298095_44298096delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 44298141 rs12185646 G A 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7841,A/0.2159 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:8:0:0:12:363:41.96:18.70:23.26:1.00:1.00:1.00:70:69.2:1:0:56:58:12:chr2 g.44298140G>A (intergenic),chr2 g.44298140G>A (intergenic):0.21,0.21:NOT_FOUND,NOT_FOUND 2 44302748 rs188634891 T G 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8578,G/0.1422;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:1:5:142:16.56:11.04:5.52:1.00:1.00:1.00:60:28.4:0:0:9:84:7:chr2 g.44302747T>G (intergenic),chr2 g.44302747T>G (intergenic):0.14,0.14:NOT_FOUND,NOT_FOUND 2 44393532 rs7593987 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2206,G/0.7794;PC=0.971 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:5:1:0:0:2,3:66,102:0.00,10.17:0.00,-0.40:0.00,10.57:0.00,0.78:0.00,0.73:0.00,0.97:60,60:0.0,34.0:0,0:0,0:38,115:111,35:28,10:-,NM_177968.2(PPM1B) c.-428-u2468A>G:-,0.77:-,NOT_FOUND 2 44428832 rs369989518 C T 176 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PPM1B/NM_001033557.2/0;CC=c.494C>T;ProtCh=p.S165F;VC=Missense;Gene=PPM1B/NM_002706.5/0;CC=c.494C>T;ProtCh=p.S165F;VC=Missense;Gene=PPM1B/NM_177969.3/0;CC=c.-15-7517C>T;VC=Intron;Gene=PPM1B/NM_177968.3/1;CC=c.494C>T;ProtCh=p.S165F;VC=Missense;DM=PPM1B/PP2C;DM=PPM1B/PP2C;DM=PPM1B/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:115:73:0:0:1,57,57:7,1890,1836:-0.18,0.00,176.46:-0.07,0.00,98.62:-0.11,0.00,77.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:72.0,7.5,39.9:0,0,0:0,0,0:74,70,68:76,80,82:0,43,37:-,NM_177968.2(PPM1B) c.494C>T (p.Ser165Phe):-,NOT_FOUND:-,0.000154 2 44429185 . G . . NT END=44436348;NT GT ./. 2 44436570 . CA C 9 idl,rn VT=DEL;SST=Single;DP=37;NP=6;Gene=PPM1B/NM_001033557.2/0;CC=c.964+117delA;VC=Intron;Gene=PPM1B/NM_002706.5/0;CC=c.964+117delA;VC=Intron;Gene=PPM1B/NM_177969.3/0;CC=c.103+117delA;VC=Intron;Gene=PPM1B/NM_177968.3/1;CC=c.964+117delA;VC=Intron;DM=PPM1B/PP2C_C;DM=PPM1B/PP2C_C;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,CA,I,C:36:3:2:5:1,29,2,4:29,820,62,159:1.47,0.00,3.93,9.12:-0.02,0.00,-0.04,1.38:1.49,0.00,3.97,7.73:0.00,0.00,0.00,0.60:0.00,0.00,0.00,0.35:0.00,0.00,0.00,0.94:60,60,60,60:71.0,35.0,0.0,9.2:0,0,0,1:0,0,0,0:43,98,77,111:101,49,74,40:0,17,4,19:-,NM_177968.2(PPM1B) c.964+105delA:-,NOT_FOUND:-,NOT_FOUND 2 44436572 . a . . NT END=44445105;NT GT ./. 2 44445218 . G . . NT END=44445618;NT GT ./. 2 44445604 rs371826554 G GT 12 idl,rn VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=5;Gene=PPM1B/NM_001033557.2/0;CC=c.1077-3dupT;VC=Intron;Gene=PPM1B/NM_002706.5/0;CC=c.1077-3dupT;VC=Intron;Gene=PPM1B/NM_177969.3/0;CC=c.216-3dupT;VC=Intron;Gene=PPM1B/NM_177968.3/1;CC=c.1077-3dupT;VC=Intron;DM=PPM1B/PP2C_C;DM=PPM1B/PP2C_C;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:G,GT,D:42:36:6:3:35,5,2:1158,189,96:0.00,11.64,4.16:0.00,7.02,3.20:0.00,4.61,0.97:0.00,0.75,0.00:0.00,0.95,0.00:0.00,0.87,0.00:60,70,60:16.2,14.8,17.0:0,1,1:0,0,0:51,46,35:92,100,111:19,25,12:-,NM_177968.2(PPM1B) c.1077-15_1077-14insT:-,NOT_FOUND:-,NOT_FOUND 2 44445677 . G . . NT END=44457131;NT GT ./. 2 44458612 . T . . NT END=44459454;NT GT ./. 2 44461400 . c . . NT END=44461663;NT GT ./. 2 44461668 rs562231987 AAAAG A 11 idl VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=1;Gene=PPM1B/NM_177968.3/1;CC=c.*2188_*2191delGAAA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:AAAAG,A:47:41:0:11:42,5:1355,158:0.00,11.27:0.00,9.10:0.00,2.17:0.00,0.73:0.00,0.96:0.00,0.85:60,60:28.3,63.6:9,0:0,0:34,85:98,66:19,6:-,NM_177968.2(PPM1B) c.*2188_*2191delGAAA:-,NOT_FOUND:-,NOT_FOUND 2 44461669 . AAAG A 15 idl VT=DEL;SST=Single;DP=40;NP=1;Gene=PPM1B/NM_177968.3/1;CC=c.*2188_*2190delGAA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:AAAG,G,A:40:34:0:19:33,1,6:1008,36,190:0.00,2.11,14.60:0.00,2.24,12.41:0.00,-0.13,2.19:0.00,0.00,0.88:0.00,0.00,0.98:0.00,0.00,0.90:60,60,60:25.8,36.0,25.0:2,1,0:0,0,0:37,88,64:97,62,85:20,0,30:-,NM_177968.2(PPM1B) c.*2188_*2190delGAA:-,NOT_FOUND:-,NOT_FOUND 2 44461672 rs12997474 G A 13 idl VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=3;NP=47;NP=8;Gene=PPM1B/NM_177968.3/1;CC=c.*2188G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,G,I:28:22:1:23:7,20,1:168,643,33:13.43,0.00,2.02:3.58,0.00,2.10:9.85,0.00,-0.08:0.96,0.00,0.00:0.99,0.00,0.00:0.96,0.00,0.00:60,60,60:52.7,10.8,0.0:0,0,0:0,0,0:43,36,36:79,99,114:11,23,0:NM_177968.2(PPM1B) c.*2188G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 44461743 . G . . NT END=44471366;NT GT ./. 2 44471313 . G GA 17 idl,rn VT=INS;SST=Single;DP=23;NP=2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G,GA,D:23:20:6:4:1,12,6,4:31,378,189,132:1.98,0.00,16.69,11.08:-0.17,0.00,12.54,9.87:2.16,0.00,4.15,1.21:0.00,0.00,0.92,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.90,0.00:60,60,60,60:59.0,5.4,4.0,0.0:0,0,0,0:0,0,0,0:0,38,101,41:151,112,48,105:0,28,19,29:-,chr2 g.44471313_44471314insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 44471550 . T . . NT END=44502674;NT GT ./. 2 44497544 rs11680456 C G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2995,G/0.7005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:7:7:0:0:2,5:65,159:0.00,16.47:0.00,16.47:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,31.8:0,0:0,0:39,66:112,84:21,29:-,NM_000341.3(SLC3A1) c.-78-u5053C>G:-,0.66:-,NOT_FOUND 2 44497828 rs6725676 T A 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.3464,A/0.6536;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:56:30:0:0:29,27:967,818:93.69,0.00:31.43,0.00:62.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,12.0:0,0:0,0:69,87:82,64:35,31:NM_000341.3(SLC3A1) c.-78-u4769T>A,-:0.62,-:NOT_FOUND,- 2 44502788 rs3738985 A C 202 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.2965,C/0.7035;PC=0.080;Gene=SLC3A1/NM_000341.3/1;CC=c.114A>C;ProtCh=p.G38=;VC=Silent;DM=SLC3A1/Alpha-amylase;DM=SLC3A1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:139:106:0:0:74,65:2349,2130:0.00,202.16:0.00,115.34:0.00,86.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,40.4:0,0:0,0:79,65:67,86:41,40:-,NM_000341.3(SLC3A1) c.114A>C (p.(=)):-,0.67:-,0.778871 2 44503105 . G . . NT END=44507854;NT GT ./. 2 44507990 rs140317484 C T 108 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.9988,A/.,T/0.001198;NP=18;PC=1.000;Gene=SLC3A1/NM_000341.3/1;CC=c.566C>T;ProtCh=p.T189M;VC=Missense;DM=SLC3A1/Alpha-amylase;DM=SLC3A1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:38:0:0:30,33:881,1115:0.00,108.44:0.00,47.74:0.00,60.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,38.0:0,0:0,0:68,67:70,84:24,36:-,NM_000341.3(SLC3A1) c.566C>T (p.Thr189Met):-,0.0027:-,0.004229 2 44508035 . G . . NT END=44508525;NT GT ./. 2 44508681 . G . . NT END=44513170;NT GT ./. 2 44508835 rs11124986 G A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4425,A/0.5575;Gene=SLC3A1/NM_000341.3/1;CC=c.765+155G>A;VC=Intron;DM=SLC3A1/Alpha-amylase;DM=SLC3A1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:14:0:0:0:6,8:190,260:17.71,0.00:0.00,0.00:17.71,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:33.3,8.5:0,0:0,0:110,88:40,62:36,34:NM_000341.3(SLC3A1) c.765+155G>A,-:0.55,-:NOT_FOUND,- 2 44512971 rs3768919 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SLC3A1/NM_000341.3/1;CC=c.766-200G>A;VC=Intron;DM=SLC3A1/Alpha-amylase;DM=SLC3A1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:A,G:14:14:0:0:6,8:177,201:16.39,0.00:16.39,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:34.2,15.1:0,0:0,0:47,40:104,110:17,37:NM_000341.3(SLC3A1) c.766-200G>A,-:0.62,-:NOT_FOUND,- 2 44513297 . G . . NT END=44527109;NT GT ./. 2 44527230 . G . . NT END=44528141;NT GT ./. 2 44528267 . G . . NT END=44531281;NT GT ./. 2 44531081 rs4953083 G T 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5639,T/0.4361;PC=0.240;Gene=SLC3A1/NM_000341.3/1;CC=c.1137-201G>T;VC=Intron;DM=SLC3A1/Alpha-amylase;DM=SLC3A1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:G,T:8:8:0:0:4,4:135,94:0.00,8.87:0.00,8.87:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:11.2,55.8:0,0:0,0:42,31:107,119:14,19:-,NM_000341.3(SLC3A1) c.1137-201G>T:-,0.43:-,NOT_FOUND 2 44531478 . G . . NT END=44539724;NT GT ./. 2 44531484 rs3738984 C T 77 nt VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.4581,T/0.5419;PC=0.001;Gene=SLC3A1/NM_000341.3/1;CC=c.1332+7C>T;VC=Intron;DM=SLC3A1/Alpha-amylase;DM=SLC3A1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:23:0:0:28,25:847,807:0.00,76.73:0.00,34.63:0.00,42.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,37.7:0,0:0,0:110,98:38,51:16,21:-,NM_000341.3(SLC3A1) c.1332+7C>T:-,0.54:-,0.630786 2 44531635 rs3738983 T C 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.894,C/0.106;Gene=SLC3A1/NM_000341.3/1;CC=c.1332+158T>C;VC=Intron;DM=SLC3A1/Alpha-amylase;DM=SLC3A1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:C,T:11:0:0:0:4,7:127,230:11.48,0.00:0.00,0.00:11.48,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:31.8,5.4:0,0:0,0:112,127:37,23:6,18:NM_000341.3(SLC3A1) c.1332+158T>C,-:0.1,-:NOT_FOUND,- 2 44539893 . G . . NT END=44540973;NT GT ./. 2 44541091 . G . . NT END=44547337;NT GT ./. 2 44547131 rs2289462 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4054,G/0.5946;PC=0.013;Gene=SLC3A1/NM_000341.3/1;CC=c.1618-207A>G;VC=Intron;Gene=PREPL/NM_001042385.2/0;CC=c.*1364T>C;VC=3UTR;Gene=PREPL/NM_001042386.2/0;CC=c.*1364T>C;VC=3UTR;Gene=PREPL/NM_006036.4/0;CC=c.*1364T>C;VC=3UTR;Gene=PREPL/NM_001171606.1/0;CC=c.*1364T>C;VC=3UTR;Gene=PREPL/NM_001171613.1/0;CC=c.*1364T>C;VC=3UTR;Gene=PREPL/NM_001171603.1/1;CC=c.*1364T>C;VC=3UTR;Gene=PREPL/NM_001171617.1/0;CC=c.*1364T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:9:9:0:0:3,6:103,156:0.00,15.91:0.00,15.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.3,29.7:0,0:0,0:45,25:106,126:29,20:-,NM_001171603.1(PREPL) c.*1364T>C:-,0.58:-,NOT_FOUND 2 44547574 rs698761 G A 124 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.5391,A/0.4609,C/.;Gene=SLC3A1/NM_000341.3/1;CC=c.1854G>A;ProtCh=p.M618I;VC=Missense;Gene=PREPL/NM_001042385.2/0;CC=c.*921C>T;VC=3UTR;Gene=PREPL/NM_001042386.2/0;CC=c.*921C>T;VC=3UTR;Gene=PREPL/NM_006036.4/0;CC=c.*921C>T;VC=3UTR;Gene=PREPL/NM_001171606.1/0;CC=c.*921C>T;VC=3UTR;Gene=PREPL/NM_001171613.1/0;CC=c.*921C>T;VC=3UTR;Gene=PREPL/NM_001171603.1/1;CC=c.*921C>T;VC=3UTR;Gene=PREPL/NM_001171617.1/0;CC=c.*921C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:103:53:0:0:42,60,1:1335,2011,7:123.50,0.00,-0.22:46.50,0.00,-0.12:77.00,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.3,6.2,106.0:0,0,0:0,0,0:65,85,102:84,65,49:30,34,0:NM_000341.3(SLC3A1) c.1854G>A (p.Met618Ile),-:0.46,-:0.544902,- 2 44547779 . G . . NT END=44548494;NT GT ./. 2 44547909 rs8886 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4245,C/0.5755;Gene=SLC3A1/NM_000341.3/1;CC=c.*131T>C;VC=3UTR;Gene=PREPL/NM_001042385.2/0;CC=c.*586A>G;VC=3UTR;Gene=PREPL/NM_001042386.2/0;CC=c.*586A>G;VC=3UTR;Gene=PREPL/NM_006036.4/0;CC=c.*586A>G;VC=3UTR;Gene=PREPL/NM_001171606.1/0;CC=c.*586A>G;VC=3UTR;Gene=PREPL/NM_001171613.1/0;CC=c.*586A>G;VC=3UTR;Gene=PREPL/NM_001171603.1/1;CC=c.*586A>G;VC=3UTR;Gene=PREPL/NM_001171617.1/0;CC=c.*586A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:16:0:0:0:5,11:147,370:12.77,0.00:0.00,0.00:12.77,0.00:0.88,0.00:0.00,0.00:0.88,0.00:60,60:38.0,6.8:0,0:0,0:103,106:48,45:27,32:NM_000341.3(SLC3A1) c.*131T>C,-:0.56,-:NOT_FOUND,- 2 44548585 . C . . NT END=44548659;NT GT ./. 2 44548613 rs2241871 T C 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.3754,C/0.6246;Gene=PREPL/NM_001042385.2/0;CC=c.1909-29A>G;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1897-29A>G;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.2095-29A>G;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.2095-29A>G;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.1828-29A>G;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.2095-29A>G;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.1828-29A>G;VC=Intron;DM=PREPL/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:29:0:0:21,22:698,671:66.90,0.00:50.26,0.00:16.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,2.8:0,0:0,0:106,40:44,110:33,30:NM_001171603.1(PREPL) c.2095-29A>G,-:0.6,-:0.708506,- 2 44549040 . C . . NT END=44549869;NT GT ./. 2 44549204 rs2241870 A G 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3628,G/0.6372;Gene=PREPL/NM_001042385.2/0;CC=c.1835-165T>C;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1823-165T>C;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.2021-165T>C;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.2021-165T>C;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.1754-165T>C;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.2021-165T>C;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.1754-165T>C;VC=Intron;DM=PREPL/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,G:11:0:0:0:4,7:129,209:0.00,21.09:0.00,0.00:0.00,21.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.8,64.4:0,0:0,0:74,118:75,31:26,28:-,NM_001171603.1(PREPL) c.2021-165T>C:-,0.61:-,NOT_FOUND 2 44549229 rs2241869 G A 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3626,A/0.6374;Gene=PREPL/NM_001042385.2/0;CC=c.1835-190C>T;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1823-190C>T;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.2021-190C>T;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.2021-190C>T;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.1754-190C>T;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.2021-190C>T;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.1754-190C>T;VC=Intron;DM=PREPL/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:7:0:0:0:4,3:115,105:11.33,0.00:0.00,0.00:11.33,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:71.8,3.7:0,0:0,0:92,92:57,59:33,15:NM_001171603.1(PREPL) c.2021-190C>T,-:0.61,-:NOT_FOUND,- 2 44549994 . C . . NT END=44550400;NT GT ./. 2 44550233 rs2053455 C T 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4247,T/0.5753;Gene=PREPL/NM_001042385.2/0;CC=c.1710+168G>A;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1698+168G>A;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.1896+168G>A;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.1896+168G>A;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.1629+168G>A;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.1896+168G>A;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.1629+168G>A;VC=Intron;DM=PREPL/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:8:0:0:9,10:271,310:0.00,30.04:0.00,6.35:0.00,23.69:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.3,66.0:0,0:0,0:35,75:116,72:8,14:-,NM_001171603.1(PREPL) c.1896+168G>A:-,0.57:-,NOT_FOUND 2 44550290 rs2053454 A G 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3748,G/0.6252;Gene=PREPL/NM_001042385.2/0;CC=c.1710+111T>C;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1698+111T>C;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.1896+111T>C;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.1896+111T>C;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.1629+111T>C;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.1896+111T>C;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.1629+111T>C;VC=Intron;DM=PREPL/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:10:0:0:7,9:241,294:0.00,28.93:0.00,9.92:0.00,19.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,67.4:0,0:0,0:84,122:67,29:11,23:-,NM_001171603.1(PREPL) c.1896+111T>C:-,0.6:-,NOT_FOUND 2 44550551 . C . . NT END=44553850;NT GT ./. 2 44553734 rs10183231 G A 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.002995,A/0.997;NP=3237;Gene=PREPL/NM_001042385.2/0;CC=c.1560+117C>T;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1548+117C>T;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.1746+117C>T;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.1746+117C>T;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.1479+117C>T;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.1746+117C>T;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.1479+117C>T;VC=Intron;DM=PREPL/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:0:14:410:47.60:47.60:0.00:1.00:1.00:0.00:60:47.9:0:0:46:104:36:NM_001171603.1(PREPL) c.1746+117C>T,NM_001171603.1(PREPL) c.1746+117C>T:1,1:NOT_FOUND,NOT_FOUND 2 44554068 . C . . NT END=44556075;NT GT ./. 2 44556252 . C . . NT END=44559597;NT GT ./. 2 44556298 rs2033951 T C 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.368,C/0.632;PC=0.001;Gene=PREPL/NM_001042385.2/0;CC=c.1168-47A>G;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1156-47A>G;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.1354-47A>G;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.1354-47A>G;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.1087-47A>G;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.1354-47A>G;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.1087-47A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,T:16:1:0:0:12,4:407,131:42.52,0.00:-0.30,0.00:42.82,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:35.0,23.5:0,0:0,0:116,102:34,48:34,31:NM_001171603.1(PREPL) c.1354-47A>G,-:0.63,-:0.759963,- 2 44559796 . C . . NT END=44565489;NT GT ./. 2 44559955 rs10185647 C T 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.01518,T/0.9848;Gene=PREPL/NM_001042385.2/0;CC=c.970-160G>A;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1156-3704G>A;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.1156-160G>A;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.1156-160G>A;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.889-160G>A;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.1156-160G>A;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.889-160G>A;VC=Intron;DM=PREPL/Peptidase_S9_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:371:42.79:0.00:42.79:1.00:0.00:1.00:60:32.1:0:0:119:31:19:NM_001171603.1(PREPL) c.1156-160G>A,NM_001171603.1(PREPL) c.1156-160G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 44565447 rs2289463 A T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.3894,T/0.6106;Gene=PREPL/NM_001042385.2/0;CC=c.969+839T>A;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.1155+43T>A;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.1155+43T>A;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.1155+43T>A;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.888+43T>A;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.1155+43T>A;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.888+43T>A;VC=Intron;DM=PREPL/Peptidase_S9_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:28:27:0:0:17,11:549,367:0.00,33.80:0.00,25.60:0.00,8.20:0.00,1.00:0.00,1.00:0.00,0.96:60,60:0.5,35.4:0,0:0,0:47,37:102,113:42,26:-,NM_001171603.1(PREPL) c.1155+43T>A:-,0.59:-,0.696431 2 44565676 . C . . NT END=44566285;NT GT ./. 2 44566503 . C . . NT END=44569555;NT GT ./. 2 44569474 rs2304769 G A 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3357,A/0.6643;PC=0.024;Gene=PREPL/NM_001042385.2/0;CC=c.752+82C>T;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.752+82C>T;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.752+82C>T;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.752+82C>T;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.485+82C>T;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.752+82C>T;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.485+82C>T;VC=Intron;DM=PREPL/Peptidase_S9_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:12,11:387,321:37.53,0.00:37.69,0.00:-0.16,0.00:1.00,0.00:1.00,0.00:0.68,0.00:60,60:42.0,8.5:0,0:0,0:71,42:79,109:36,25:NM_001171603.1(PREPL) c.752+82C>T,-:0.64,-:NOT_FOUND,- 2 44569692 . C . . NT END=44570883;NT GT ./. 2 44569700 rs61004197 AAAT A 23 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=AAAT/0.4349,A/0.5651;NP=2963;PC=0.464;Gene=PREPL/NM_001042385.2/0;CC=c.617-12_617-10delATT;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.617-12_617-10delATT;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.617-12_617-10delATT;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.617-12_617-10delATT;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.350-12_350-10delATT;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.617-12_617-10delATT;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.350-12_350-10delATT;VC=Intron;DM=PREPL/Peptidase_S9_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAT,A:22:6:0:8:14,8:449,259:0.00,23.45:0.00,11.43:0.00,12.02:0.00,0.99:0.00,0.92:0.00,1.00:60,60:9.8,9.2:0,0:0,0:112,93:38,58:13,23:-,NM_001171603.1(PREPL) c.617-12_617-10delATT:-,0.54:-,0.648521 2 44569739 . TA T 8 idl,rn VT=DEL;SST=Single;DP=14;Gene=PREPL/NM_001042385.2/0;CC=c.617-49delT;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.617-49delT;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.617-49delT;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.617-49delT;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.350-49delT;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.617-49delT;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.350-49delT;VC=Intron;DM=PREPL/Peptidase_S9_N;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,TA,I,T:13:4:2:4:1,7,2,3:10,205,68,126:0.23,0.00,5.60,8.29:-0.06,0.00,4.42,-0.21:0.29,0.00,1.18,8.50:0.00,0.00,0.00,0.56:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.89:60,60,60,60:64.0,17.3,0.0,3.7:0,0,0,1:0,0,0,0:55,128,111,99:96,23,22,52:0,18,19,17:-,NM_001171603.1(PREPL) c.617-49delT:-,NOT_FOUND:-,NOT_FOUND 2 44570776 rs17580226 C T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.385,T/0.615;PC=0.002;Gene=PREPL/NM_001042385.2/0;CC=c.616+108G>A;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.616+108G>A;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.616+108G>A;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.616+108G>A;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.349+108G>A;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.616+108G>A;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.349+108G>A;VC=Intron;DM=PREPL/Peptidase_S9_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T:7:7:0:0:4,3:128,78:0.00,7.15:0.00,7.15:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,90.7:0,0:0,0:82,81:67,70:42,9:-,NM_001171603.1(PREPL) c.616+108G>A:-,0.59:-,NOT_FOUND 2 44570804 rs12053381 C A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4119,A/0.5881;Gene=PREPL/NM_001042385.2/0;CC=c.616+80G>T;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.616+80G>T;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.616+80G>T;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.616+80G>T;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.349+80G>T;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.616+80G>T;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.349+80G>T;VC=Intron;DM=PREPL/Peptidase_S9_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,C:8:8:0:0:4,4:139,127:13.40,0.00:13.40,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:76.5,0.0:0,0:0,0:104,63:46,87:14,46:NM_001171603.1(PREPL) c.616+80G>T,-:0.57,-:NOT_FOUND,- 2 44571091 . C . . NT END=44571658;NT GT ./. 2 44571215 rs35987136 CAAT C 15 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CAAT/0.4121,C/0.5879;NP=795;Gene=PREPL/NM_001042385.2/0;CC=c.410-128_410-126delATT;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.410-128_410-126delATT;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.410-128_410-126delATT;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.410-128_410-126delATT;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.143-128_143-126delATT;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.410-128_410-126delATT;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.143-128_143-126delATT;VC=Intron;DM=PREPL/Peptidase_S9_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:CAAT,C:10:0:0:5:5,5:143,159:0.00,15.29:0.00,0.00:0.00,15.29:0.00,0.95:0.00,0.00:0.00,0.95:60,60:6.0,4.6:0,0:0,0:125,104:23,47:11,12:-,NM_001171603.1(PREPL) c.410-128_410-126delATT:-,0.57:-,NOT_FOUND 2 44571726 . C . . NT END=44573406;NT GT ./. 2 44573530 . C . . NT END=44586635;NT GT ./. 2 44573624 rs698763 G A 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=PREPL/NM_001042385.2/0;CC=c.220-95C>T;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.220-95C>T;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.220-95C>T;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.220-95C>T;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.-48-95C>T;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.220-95C>T;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.-48-95C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:5:0:0:11,15:374,453:34.97,0.00:8.84,0.00:26.13,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:72.1,6.7:0,0:0,0:101,109:48,39:22,37:NM_001171603.1(PREPL) c.220-95C>T,-:0.6,-:NOT_FOUND,- 2 44573658 rs698764 T C 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3311,C/0.6689;Gene=PREPL/NM_001042385.2/0;CC=c.220-129A>G;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.220-129A>G;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.220-129A>G;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.220-129A>G;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.-48-129A>G;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.220-129A>G;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.-48-129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:2:0:0:7,10:238,309:22.14,0.00:1.73,0.00:20.41,0.00:0.98,0.00:0.71,0.00:0.98,0.00:60,60:96.7,10.0:0,0:0,0:129,101:22,50:6,31:NM_001171603.1(PREPL) c.220-129A>G,-:0.64,-:NOT_FOUND,- 2 44573671 rs698765 G T 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3794,T/0.6206;Gene=PREPL/NM_001042385.2/0;CC=c.220-142C>A;VC=Intron;Gene=PREPL/NM_001042386.2/0;CC=c.220-142C>A;VC=Intron;Gene=PREPL/NM_006036.4/0;CC=c.220-142C>A;VC=Intron;Gene=PREPL/NM_001171606.1/0;CC=c.220-142C>A;VC=Intron;Gene=PREPL/NM_001171613.1/0;CC=c.-48-142C>A;VC=Intron;Gene=PREPL/NM_001171603.1/1;CC=c.220-142C>A;VC=Intron;Gene=PREPL/NM_001171617.1/0;CC=c.-48-142C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:13:2:0:0:7,6:235,192:0.00,18.17:0.00,1.64:0.00,16.53:0.00,0.97:0.00,0.76:0.00,0.97:60,60:6.7,100.3:0,0:0,0:103,136:46,15:16,10:-,NM_001171603.1(PREPL) c.220-142C>A:-,0.59:-,NOT_FOUND 2 44586855 . G . . NT END=44589146;NT GT ./. 2 44588941 rs698775 G A 88 nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.3884,A/0.6116;PC=0.896;Gene=PREPL/NM_001171603.1/1;CC=c.-314C>T;VC=5UTR;Gene=PREPL/NM_001171617.1/0;CC=c.-327C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:53:0:0:28,25:907,805:88.17,0.00:88.17,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.7,16.3:0,0:0,0:28,40:122,111:21,26:NM_001171603.1(PREPL) c.-314C>T,-:0.59,-:NOT_FOUND,- 2 44589285 . G . . NT END=44599854;NT GT ./. 2 44600028 . G . . NT END=44617379;NT GT ./. 2 44617324 rs1085486 T A 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.3564,A/0.6436;Gene=CAMKMT/NM_024766.4/1;CC=c.312-56T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:21:0:0:15,12:492,398:48.30,0.00:29.03,0.00:19.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,6.2:0,0:0,0:48,51:103,92:17,14:NM_024766.4(CAMKMT) c.312-56T>A,-:0.61,-:0.72432,- 2 44617445 . G . . NT END=44931421;NT GT ./. 2 44617633 rs1085487 A G 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2584,G/0.7416;Gene=CAMKMT/NM_024766.4/1;CC=c.376+189A>G;VC=Intron;DM=CAMKMT/Methyltransf_16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:114:13.29:0.00:13.29:1.00:0.00:1.00:60:128.2:0:0:100:39:17:NM_024766.4(CAMKMT) c.376+189A>G,NM_024766.4(CAMKMT) c.376+189A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 2 44766097 rs59764731 CTGTGTG C 6 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CTGTGTG/0.8778,C/0.1222;DB;DBA=NA;PAF=CTGTGTG/0.8778,C/0.1222;NP=8;Gene=CAMKMT/NM_024766.4/1;CC=c.376+148693_376+148698delGTGTGT;VC=Intron;DM=CAMKMT/Methyltransf_16;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:CTGTGTG,C:3:4:0:5:1,2:25,118:0.00,6.34:0.00,1.47:0.00,4.87:0.00,0.46:0.00,0.87:0.00,0.70:60,60:8.0,64.5:0,2:0,0:66,38:48,91:0,11:-,NM_024766.4(CAMKMT) c.376+148654_376+148659delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 44931483 . G . . NT END=44932466;NT GT ./. 2 44932339 rs146220848 C G 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9944,G/0.005591;NP=20;PC=0.994;Gene=CAMKMT/NM_024766.4/1;CC=c.437+857C>G;VC=Intron;DM=CAMKMT/Methyltransf_16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,G:15:15:0:0:10,5:320,158:0.00,14.04:0.00,12.29:0.00,1.75:0.00,0.89:0.00,0.89:0.00,0.56:60,60:9.2,31.6:0,0:0,0:23,12:127,139:13,12:-,NM_024766.4(CAMKMT) c.437+857C>G:-,0.01:-,NOT_FOUND 2 44932677 . G . . NT END=44933425;NT GT ./. 2 44933481 . G . . NT END=44934537;NT GT ./. 2 44934602 . G . . NT END=44942425;NT GT ./. 2 44942331 . C CA 10 idl,rn VT=INS;SST=Single;DP=22;Gene=CAMKMT/NM_024766.4/1;CC=c.557-75_557-74insA;VC=Intron;DM=CAMKMT/Methyltransf_16;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,CA,D:19:21:6:2:14,4,1:449,186,68:0.00,9.83,2.25:0.00,9.96,2.28:0.00,-0.13,-0.03:0.00,0.70,0.00:0.00,0.96,0.00:0.00,0.44,0.00:60,60,60:23.3,17.2,20.0:0,2,1:0,0,0:64,17,71:82,132,74:54,12,23:-,NM_024766.4(CAMKMT) c.557-95_557-94insA:-,NOT_FOUND:-,NOT_FOUND 2 44942384 rs343957 C G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.2165,G/0.7835;Gene=CAMKMT/NM_024766.4/1;CC=c.557-42C>G;VC=Intron;DM=CAMKMT/Methyltransf_16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:36:27:0:0:19,17:607,504:0.00,47.66:0.00,23.03:0.00,24.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,45.0:0,0:0,0:54,42:95,109:25,15:-,NM_024766.4(CAMKMT) c.557-42C>G:-,0.75:-,0.700984 2 44942493 . G . . NT END=44970760;NT GT ./. 2 44970836 . G . . NT END=44981193;NT GT ./. 2 44981258 . G . . NT END=44993568;NT GT ./. 2 44993701 . G . . NT END=44999174;NT GT ./. 2 44999253 . A . . NT END=45169243;NT GT ./. 2 45170050 . G . . NT END=45171706;NT GT ./. 2 45170153 rs4953152 G A 154 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.617,A/0.383;Gene=SIX3/NM_005413.3/1;CC=c.806+104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:36:0:0:48,33:1547,1055:153.81,0.00:36.44,0.00:117.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,6.3:0,0:0,0:100,84:50,67:25,29:NM_005413.3(SIX3) c.806+104G>A,-:0.36,-:NOT_FOUND,- 2 45171546 rs62131236 C T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7586,T/0.2414;PC=0.001;Gene=SIX3/NM_005413.3/1;CC=c.807-161C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,C,T:12:12:0:0:1,5,6:11,145,202:0.39,0.00,19.76:0.39,0.00,17.92:0.00,0.00,1.84:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.67:60,60,60:276.0,6.8,36.8:0,0,0:0,0,0:115,89,47:36,59,102:0,13,23:-,NM_005413.3(SIX3) c.807-161C>T:-,0.24:-,NOT_FOUND 2 45171842 rs338074 A G 433 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.0625,G/0.9375;PC=0.981;Gene=SIX3/NM_005413.3/1;CC=c.942A>G;ProtCh=p.A314=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:123:73:0:0:123:3743:432.53:158.09:274.44:1.00:1.00:1.00:60:44.3:0:0:84:62:30:NM_005413.3(SIX3) c.942A>G (p.(=)),NM_005413.3(SIX3) c.942A>G (p.(=)):0.95,0.95:0.936881,0.936881 2 45171900 . T . . NT END=45233308;NT GT ./. 2 45177292 rs60034375 T TAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.015;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:T,TAC:3:3:3:0:1,2:36,94:0.00,6.75:0.00,5.11:0.00,1.64:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,29.5:0,1:0,0:79,58:49,91:0,10:-,chr2 g.45177292_45177293insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 45178004 rs72246271 ACG A 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ACG/0.1058,A/0.8942;DB;DBA=NA;PAF=ACG/0.1058,A/0.8942;NP=217;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:ACG,A:4:2:0:3:1,3:32,93:0.00,9.75:0.00,3.75:0.00,6.00:0.00,0.85:0.00,0.95:0.00,0.85:60,70:32.0,34.3:0,0:0,0:130,60:7,89:0,8:-,chr2 g.45178005_45178006delCG (intergenic):-,0.89:-,NOT_FOUND 2 45205713 rs200992555 GACACACACAC G 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4;PC=0.002;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GACACACACAC,G:4:3:0:2:2,2:69,67:0.00,6.45:0.00,1.19:0.00,5.26:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,11.5:0,0:0,0:121,70:28,79:15,7:-,chr2 g.45205714_45205723delACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 45233625 . C . . NT END=45235683;NT GT ./. 2 45236250 . G . . NT END=45616449;NT GT ./. 2 45616739 . C . . NT END=45620083;NT GT ./. 2 45620269 . C . . NT END=45640252;NT GT ./. 2 45640433 . C . . NT END=45645503;NT GT ./. 2 45645681 . C . . NT END=45646926;NT GT ./. 2 45645815 rs71948671 TA T 43 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=604;Gene=SRBD1/NM_018079.4/1;CC=c.2157-136delT;VC=Intron;DM=SRBD1/HHH_3;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:28:0:0:15:13,15:313,446:0.00,43.45:0.00,0.00:0.00,43.45:0.00,1.00:0.00,0.00:0.00,1.00:60,60:61.8,33.4:1,0:0,0:138,92:8,46:5,23:-,NM_018079.4(SRBD1) c.2157-136delT:-,NOT_FOUND:-,NOT_FOUND 2 45645826 rs59246865 A C 7 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8656,C/0.1344;NP=67;Gene=SRBD1/NM_018079.4/1;CC=c.2157-146T>G;VC=Intron;DM=SRBD1/HHH_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C,D:23:0:0:1:18,4,1:548,100,22:0.00,7.40,0.98:0.00,0.00,0.00:0.00,7.40,0.98:0.00,0.69,0.00:0.00,0.00,0.00:0.00,0.69,0.00:60,60,60:40.9,73.0,71.0:0,0,0:0,0,0:100,149,102:42,-2,18:27,0,0:-,NM_018079.4(SRBD1) c.2157-146T>G:-,NOT_FOUND:-,NOT_FOUND 2 45647034 . C . . NT END=45704131;NT GT ./. 2 45647043 rs3213788 C G 148 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.7778,G/0.2222;PC=0.991;Gene=SRBD1/NM_018079.4/1;CC=c.2050-10G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:19:0:0:39:1299:148.47:50.11:98.36:1.00:1.00:1.00:60:40.5:0:0:109:32:27:NM_018079.4(SRBD1) c.2050-10G>C,NM_018079.4(SRBD1) c.2050-10G>C:0.24,0.24:0.370521,0.370521 2 45704215 . C . . NT END=45715378;NT GT ./. 2 45715471 . C . . NT END=45773290;NT GT ./. 2 45715648 rs3755080 T C 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.633,C/0.367;PC=0.013;Gene=SRBD1/NM_018079.4/1;CC=c.1875-178A>G;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:256:29.87:0.00:29.87:1.00:0.00:1.00:60:50.1:0:0:127:21:10:NM_018079.4(SRBD1) c.1875-178A>G,NM_018079.4(SRBD1) c.1875-178A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 2 45748425 rs71394840 A AAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=53;NP=70;PC=0.001;Gene=SRBD1/NM_018079.4/1;CC=c.1874+25445_1874+25446insGT;VC=Intron;DM=SRBD1/Tex_YqgF;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,AAC:4:4:2:0:2,2:66,67:0.00,6.45:0.00,4.81:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,0.0:0,0:0,0:107,53:25,93:27,37:-,NM_018079.4(SRBD1) c.1874+25445_1874+25446insGT:-,NOT_FOUND:-,NOT_FOUND 2 45773394 rs17394520 T C 257 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.7546,C/0.2454;Gene=SRBD1/NM_018079.4/1;CC=c.1874+477A>G;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:44:0:0:68:2245:256.84:127.59:129.25:1.00:1.00:1.00:60:40.2:0:0:79:64:29:NM_018079.4(SRBD1) c.1874+477A>G,NM_018079.4(SRBD1) c.1874+477A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 2 45773500 . C . . NT END=45773869;NT GT ./. 2 45773511 rs17394527 A G 215 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.5683,G/0.4317;Gene=SRBD1/NM_018079.4/1;CC=c.1874+360T>C;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G,T:59:20:0:0:58,1:1877,7:214.80,0.07:50.39,0.00:164.41,0.07:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.4,51.0:0,0:0,0:84,84:60,66:23,0:NM_018079.4(SRBD1) c.1874+360T>C,NM_018079.4(SRBD1) c.1874+360T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 2 45773816 rs2276657 C G 87 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.5659,G/0.4341;Gene=SRBD1/NM_018079.4/1;CC=c.1874+55G>C;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:24:0:0:25:753:87.14:81.35:5.79:1.00:1.00:1.00:60:36.2:0:0:33:118:21:NM_018079.4(SRBD1) c.1874+55G>C,NM_018079.4(SRBD1) c.1874+55G>C:0.4,0.4:NOT_FOUND,NOT_FOUND 2 45773979 . C . . NT END=45774659;NT GT ./. 2 45774050 rs6708810 G A 136 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.7586,A/0.2414;PC=0.304;Gene=SRBD1/NM_018079.4/1;CC=c.1767-72C>T;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:10:0:0:38:1179:135.86:24.75:111.11:1.00:1.00:1.00:60:38.4:0:0:107:43:24:NM_018079.4(SRBD1) c.1767-72C>T,NM_018079.4(SRBD1) c.1767-72C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 2 45774548 rs1865685 A C 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2516,C/0.7484;Gene=SRBD1/NM_018079.4/1;CC=c.1766+113T>G;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:377:42.95:42.95:0.00:1.00:1.00:0.00:60:35.8:0:0:35:116:23:NM_018079.4(SRBD1) c.1766+113T>G,NM_018079.4(SRBD1) c.1766+113T>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 45774752 . C . . NT END=45778262;NT GT ./. 2 45775006 rs7558185 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5701,C/0.4299;Gene=SRBD1/NM_018079.4/1;CC=c.1676-255A>G;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:106:12.81:0.00:12.81:1.00:0.00:1.00:60:50.6:0:0:63:88:29:NM_018079.4(SRBD1) c.1676-255A>G,NM_018079.4(SRBD1) c.1676-255A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 2 45775021 rs7558188 T G 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5683,G/0.4317;Gene=SRBD1/NM_018079.4/1;CC=c.1676-270A>C;VC=Intron;DM=SRBD1/Tex_YqgF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:0:0:0:5:147:17.03:0.00:17.03:1.00:0.00:1.00:60:50.6:0:0:78:73:29:NM_018079.4(SRBD1) c.1676-270A>C,NM_018079.4(SRBD1) c.1676-270A>C:0.43,0.43:NOT_FOUND,NOT_FOUND 2 45778422 . C . . NT END=45780760;NT GT ./. 2 45780870 . C . . NT END=45789790;NT GT ./. 2 45780962 rs3816107 C G 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.504,G/0.496;Gene=SRBD1/NM_018079.4/1;CC=c.1410-93G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:2:0:0:23:729:83.87:6.45:77.41:1.00:1.00:1.00:60:37.9:0:0:76:75:30:NM_018079.4(SRBD1) c.1410-93G>C,NM_018079.4(SRBD1) c.1410-93G>C:0.49,0.49:NOT_FOUND,NOT_FOUND 2 45789896 . C . . NT END=45800344;NT GT ./. 2 45790156 rs17322785 T G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7584,G/0.2416;PC=0.024;Gene=SRBD1/NM_018079.4/1;CC=c.1306-261A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:0:0:0:5:125:14.83:0.00:14.83:1.00:0.00:1.00:60:47.8:0:0:122:29:27:NM_018079.4(SRBD1) c.1306-261A>C,NM_018079.4(SRBD1) c.1306-261A>C:0.26,0.26:NOT_FOUND,NOT_FOUND 2 45800482 . C . . NT END=45801764;NT GT ./. 2 45801863 . C . . NT END=45807012;NT GT ./. 2 45806963 rs374392017 TA T 36 idl,rn VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=109;PC=0.004;Gene=SRBD1/NM_018079.4/1;CC=c.1072+50delT;VC=Intron;DM=SRBD1/Tex_N;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:65:65:9:20:1,43,7,14:9,1324,296,616:-0.16,0.00,17.34,35.58:-0.21,0.00,12.33,29.65:0.05,0.00,5.01,5.93:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.82:60,60,60,70:47.0,15.2,10.1,27.3:0,0,2,6:0,0,0,0:25,43,68,29:126,91,81,118:0,29,28,17:-,NM_018079.4(SRBD1) c.1072+50delT:-,NOT_FOUND:-,NOT_FOUND 2 45807153 . C . . NT END=45808830;NT GT ./. 2 45808950 . C . . NT END=45812745;NT GT ./. 2 45812914 . C . . NT END=45826586;NT GT ./. 2 45824068 rs70937964 A AACACACAC 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5481,AAA/.,AAC/.,AACAC/0.4519,AACACAC/.;DB;DBA=NA;PAF=NA;NP=21;NP=50;NP=7;PC=0.004;Gene=SRBD1/NM_018079.4/1;CC=c.648+2519_648+2520insGTGTGTGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,C,AACACACAC:4:4:3:0:1,1,2:34,10,92:0.00,0.70,6.34:0.00,-0.10,6.34:0.00,0.79,0.00:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.60:60,60,60:11.0,102.0,38.5:0,1,1:0,0,0:84,43,23:67,96,127:0,0,5:-,NM_018079.4(SRBD1) c.648+2519_648+2520insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 45824127 rs139080511 T TCACA 19 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=29;NP=3;PC=0.079;Gene=SRBD1/NM_018079.4/1;CC=c.648+2460_648+2461insTGTG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:T,TCACA:9:9:8:0:3,6:53,238:0.00,18.77:0.00,12.43:0.00,6.34:0.00,0.98:0.00,1.00:0.00,0.99:60,60:50.7,27.8:0,2:0,0:144,67:6,73:5,20:-,NM_018079.4(SRBD1) c.648+2460_648+2461insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 45826526 rs35501868 CT C 235 nt VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=CT/0.609,C/0.391;NP=2685;Gene=SRBD1/NM_018079.4/1;CC=c.648+61delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:CT,C:66:59:0:65:1,65:27,2066:0.00,235.34:0.00,185.06:0.00,50.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,8.6:0,0:0,0:148,54:1,97:0,33:NM_018079.4(SRBD1) c.648+61delA,NM_018079.4(SRBD1) c.648+61delA:0.41,0.41:NOT_FOUND,NOT_FOUND 2 45826975 . C . . NT END=45829040;NT GT ./. 2 45827174 rs6544840 G C 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2586,C/0.7414;Gene=SRBD1/NM_018079.4/1;CC=c.262-200C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:445:51.13:0.00:51.13:1.00:0.00:1.00:60:34.7:0:0:104:46:34:NM_018079.4(SRBD1) c.262-200C>G,NM_018079.4(SRBD1) c.262-200C>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 45829223 . C . . NT END=45832499;NT GT ./. 2 45832581 . C . . NT END=45879239;NT GT ./. 2 45879588 . G . . NT END=45904970;NT GT ./. 2 45879610 rs637909 A G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.1356,G/0.8644;PC=0.020;Gene=PRKCE/NM_005400.2/1;CC=c.348+23A>G;VC=Intron;DM=PRKCE/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:17:0:0:34,13:1085,389:0.00,33.05:0.00,9.18:0.00,23.87:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.0,44.9:0,0:0,0:121,109:29,42:19,27:-,NM_005400.2(PRKCE) c.348+23A>G:-,0.85:-,0.864261 2 45904871 . C T 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;Gene=PRKCE/NM_005400.2/1;CC=c.348+25284C>T;VC=Intron;DM=PRKCE/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:34:0:0:19,15:600,463:0.00,43.30:0.00,40.11:0.00,3.19:0.00,1.00:0.00,1.00:0.00,0.94:60,60:13.9,46.1:0,0:0,0:52,34:98,115:35,27:-,NM_005400.2(PRKCE) c.348+25284C>T:-,NOT_FOUND:-,NOT_FOUND 2 45905056 . G . . NT END=46070138;NT GT ./. 2 45905146 rs10207776 T C 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.9054,C/0.09465;PC=0.001;Gene=PRKCE/NM_005400.2/1;CC=c.348+25559T>C;VC=Intron;DM=PRKCE/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:1:0:0:16,17:535,519:51.21,0.00:1.88,0.00:49.33,0.00:1.00,0.00:0.66,0.00:1.00,0.00:60,60:43.8,12.1:0,0:0,0:86,82:60,69:28,36:NM_005400.2(PRKCE) c.348+25559T>C,-:0.1,-:NOT_FOUND,- 2 46070203 . G . . NT END=46203567;NT GT ./. 2 46070269 rs397978888 T TC 31 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8283,TC/0.1717,TG/.;DB;DBA=NA;PAF=T/0.8283,TC/0.1717;DB;DBA=NA;PAF=T/0.8283,TC/0.1717;NP=1212;Gene=PRKCE/NM_005400.2/1;CC=c.412+74dupC;VC=Intron;DM=PRKCE/Pkinase;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TC:18:5:10:0:8,10:263,313:0.00,30.70:0.00,8.68:0.00,22.02:0.00,1.00:0.00,0.98:0.00,1.00:60,70:1.4,0.8:0,0:0,0:107,103:43,44:31,17:-,NM_005400.2(PRKCE) c.412+67_412+68insC:-,0.2:-,0.198354 2 46203223 rs751238 G C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1056,C/0.8944;Gene=PRKCE/NM_005400.2/1;CC=c.413-345G>C;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:66.0:0:0:20:130:11:NM_005400.2(PRKCE) c.413-345G>C,NM_005400.2(PRKCE) c.413-345G>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 46203231 rs751237 C T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7095,T/0.2905;Gene=PRKCE/NM_005400.2/1;CC=c.413-337C>T;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:66.0:0:0:28:122:11:NM_005400.2(PRKCE) c.413-337C>T,NM_005400.2(PRKCE) c.413-337C>T:0.27,0.27:NOT_FOUND,NOT_FOUND 2 46203728 . G . . NT END=46206114;NT GT ./. 2 46203796 rs2278786 G C 143 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PRKCE/NM_005400.2/1;CC=c.572+69G>C;VC=Intron;DM=PRKCE/Pkinase;DM=PRKCE/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:5:0:0:38:1245:142.58:11.93:130.65:1.00:1.00:1.00:60:46.9:0:0:97:53:32:NM_005400.2(PRKCE) c.572+69G>C,NM_005400.2(PRKCE) c.572+69G>C:0.4,0.4:NOT_FOUND,NOT_FOUND 2 46206150 . G . . NT END=46207434;NT GT ./. 2 46207521 . G . . NT END=46211689;NT GT ./. 2 46211658 rs4953294 G A 297 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.8197,A/0.1803,C/.;Gene=PRKCE/NM_005400.2/1;CC=c.694-32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:77:70:0:0:77:2605:297.17:226.32:70.85:1.00:1.00:1.00:60:38.5:0:0:46:103:23:NM_005400.2(PRKCE) c.694-32G>A,NM_005400.2(PRKCE) c.694-32G>A:0.17,0.17:0.209643,0.209643 2 46211820 . G . . NT END=46228542;NT GT ./. 2 46211935 rs2595213 T C 106 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.08566,C/0.9143;Gene=PRKCE/NM_005400.2/1;CC=c.823+116T>C;VC=Intron;DM=PRKCE/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:C:33:2:0:0:33:906:106.10:3.73:102.37:1.00:1.00:1.00:60:41.3:0:0:105:46:26:NM_005400.2(PRKCE) c.823+116T>C,NM_005400.2(PRKCE) c.823+116T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 46228300 rs4952796 G T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6562,T/0.3438;Gene=PRKCE/NM_005400.2/1;CC=c.824-243G>T;VC=Intron;DM=PRKCE/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,T:5:5:0:0:2,3:62,85:0.00,8.46:0.00,8.46:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,28.3:0,0:0,0:18,8:132,143:5,7:-,NM_005400.2(PRKCE) c.824-243G>T:-,0.31:-,NOT_FOUND 2 46228391 rs71394868 C CAT 7 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=5;PC=0.001;Gene=PRKCE/NM_005400.2/1;CC=c.824-132_824-131insAT;VC=Intron;DM=PRKCE/C1_1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CAT,D:12:15:5:2:8,3,1:270,156,64:0.00,7.46,2.06:0.00,7.46,2.06:0.00,0.00,0.00:0.00,0.93,0.00:0.00,0.93,0.00:0.00,0.00,0.00:60,60,60:7.1,48.0,26.0:0,2,1:0,0,0:74,82,50:76,68,99:35,17,7:-,NM_005400.2(PRKCE) c.824-152_824-151insAT:-,NOT_FOUND:-,NOT_FOUND 2 46228686 . G . . NT END=46231680;NT GT ./. 2 46231525 rs4953297 T A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7159,A/0.2841;PC=0.998;Gene=PRKCE/NM_005400.2/1;CC=c.967-156T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,T:13:13:0:0:5,8:159,278:14.52,0.00:14.52,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:40.2,0.0:0,0:0,0:45,27:106,124:31,11:NM_005400.2(PRKCE) c.967-156T>A,-:0.26,-:NOT_FOUND,- 2 46231778 . G . . NT END=46234600;NT GT ./. 2 46234801 . G . . NT END=46237482;NT GT ./. 2 46237209 rs4953299 T C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6945,C/0.3055;PC=0.012;Gene=PRKCE/NM_005400.2/1;CC=c.1264-274T>C;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:5:5:0:0:3,2:82,68:8.17,0.00:8.17,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:72.0,0.0:0,0:0,0:61,71:90,80:6,7:NM_005400.2(PRKCE) c.1264-274T>C,-:0.28,-:NOT_FOUND,- 2 46237293 rs4953300 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.7139,T/0.2861;PC=0.003;Gene=PRKCE/NM_005400.2/1;CC=c.1264-190C>T;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,T:18:18:0:0:12,6:372,178:0.00,15.68:0.00,15.68:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:2.2,53.2:0,0:0,0:34,62:116,88:12,39:-,NM_005400.2(PRKCE) c.1264-190C>T:-,0.26:-,NOT_FOUND 2 46237446 rs1987070 C A 103 nt VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.8027,A/0.1973;Gene=PRKCE/NM_005400.2/1;CC=c.1264-37C>A;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:68:53:0:0:33,35:1078,1169:103.09,0.00:63.22,0.00:39.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,4.2:0,0:0,0:48,57:99,90:21,29:NM_005400.2(PRKCE) c.1264-37C>A,-:0.22,-:0.22927,- 2 46237657 . G . . NT END=46237822;NT GT ./. 2 46238063 . T . . NT END=46313346;NT GT ./. 2 46238244 rs6544867 A G 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1871,G/0.8129;PC=0.016;Gene=PRKCE/NM_005400.2/1;CC=c.1437+588A>G;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,G,T:10:0:0:0:1,8,1:28,271,7:0.00,29.44,0.28:0.00,0.00,0.00:0.00,29.44,0.28:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:0.0,33.9,76.0:0,0,0:0,0,0:26,115,68:125,36,83:0,28,0:-,NM_005400.2(PRKCE) c.1437+588A>G:-,0.79:-,NOT_FOUND 2 46308111 rs57380525 T TACACACAC 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=3;Gene=PRKCE/NM_005400.2/1;CC=c.1438-5205_1438-5204insCACACACA;VC=Intron;DM=PRKCE/Pkinase;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:T,TACACACAC:4:5:3:0:2,2:51,101:0.00,6.42:0.00,4.79:0.00,1.63:0.00,0.46:0.00,0.46:0.00,0.70:60,60:0.0,8.5:0,1:0,0:90,46:20,105:52,13:-,NM_005400.2(PRKCE) c.1438-5236_1438-5235insACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 46313481 rs1143691 C T 104 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.8363,T/0.1637;PC=1.000;Gene=PRKCE/NM_005400.2/1;CC=c.1572C>T;ProtCh=p.H524=;VC=Silent;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:90:52:0:0:55,35:1737,1136:0.00,104.17:0.00,43.91:0.00,60.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,37.7:0,0:0,0:87,95:62,45:37,32:-,NM_005400.2(PRKCE) c.1572C>T (p.(=)):-,0.15:-,0.063527 2 46313502 . G . . NT END=46372231;NT GT ./. 2 46372371 . G . . NT END=46378179;NT GT ./. 2 46378369 . G . . NT END=46386744;NT GT ./. 2 46378419 rs35676949 T TAC 19 sb;idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=21;Gene=PRKCE/NM_005400.2/1;CC=c.1920+95_1920+96insAC;VC=Intron;DM=PRKCE/Pkinase;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAC:23:9:10:1:15,8:422,285:0.00,19.47:0.00,0.89:0.00,18.58:0.00,0.99:0.00,0.95:0.00,1.00:60,70:13.7,19.1:0,2:0,0:110,63:40,86:25,17:-,NM_005400.2(PRKCE) c.1920+51_1920+52insAC:-,NOT_FOUND:-,NOT_FOUND 2 46378616 rs11686993 G T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9413,T/0.05871;PC=0.997;Gene=PRKCE/NM_005400.2/1;CC=c.1920+248G>T;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:G,T:8:0:0:0:3,5:64,166:0.00,16.70:0.00,0.00:0.00,16.70:0.00,0.97:0.00,0.00:0.00,0.97:60,60:63.0,76.8:0,0:0,0:53,72:98,78:26,16:-,NM_005400.2(PRKCE) c.1920+248G>T:-,0.07:-,NOT_FOUND 2 46378624 rs4952805 G A 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.02037,A/0.9796;PC=0.913;Gene=PRKCE/NM_005400.2/1;CC=c.1920+256G>A;VC=Intron;DM=PRKCE/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:245:28.31:0.00:28.31:1.00:0.00:1.00:60:71.6:0:0:72:78:19:NM_005400.2(PRKCE) c.1920+256G>A,NM_005400.2(PRKCE) c.1920+256G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 46386892 . G . . NT END=46411873;NT GT ./. 2 46412021 . G . . NT END=46525050;NT GT ./. 2 46451654 rs55638391 CTGTGTG C 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.002;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CTGTGTG,C:3:2:0:3:1,2:35,98:0.00,6.65:0.00,0.10:0.00,6.55:0.00,0.51:0.00,0.79:0.00,0.51:60,60:11.0,46.0:0,1:0,0:101,74:40,76:0,1:-,chr2 g.46451655_46451660delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 46488995 . ATG A 6 rn VT=DEL;SST=Single;DP=4;NP=72;PC=0.542;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:ATG,A:3:4:0:3:1,2:33,95:0.00,6.45:0.00,3.07:0.00,3.38:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,42.0:0,1:0,0:123,56:28,94:0,32:-,chr2 g.46488996_46488997delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 46525077 . G . . NT END=46574011;NT GT ./. 2 46574203 . G . . NT END=46583289;NT GT ./. 2 46583272 rs545163219 A C 12 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.9772,C/0.02177;DB;DBA=NA;PAF=A/0.9772,AC/0.0009984,ACC/.,ACT/.;Gene=EPAS1/NM_001430.4/1;CC=c.218-18A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,C,G,I,D:46:7:1:5:30,10,1,1,4:561,165,12,22,111:0.00,11.57,0.01,0.77,7.61:0.00,-0.42,-0.04,-0.04,5.44:0.00,11.99,0.05,0.81,2.17:0.00,0.99,0.00,0.00,0.00:0.00,0.79,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:60,60,60,60,60:17.7,48.1,143.0,20.0,59.8:0,2,0,0,0:0,0,0,0,0:48,47,61,28,12:94,103,89,122,127:26,24,0,0,8:-,NM_001430.4(EPAS1) c.218-18A>C:-,NOT_FOUND:-,NOT_FOUND 2 46583442 . G . . NT END=46583862;NT GT ./. 2 46583948 . G . . NT END=46587776;NT GT ./. 2 46587896 . G . . NT END=46588023;NT GT ./. 2 46588230 . G . . NT END=46596965;NT GT ./. 2 46597073 . G . . NT END=46602828;NT GT ./. 2 46597296 rs6753127 T C 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.0641,C/0.9359;Gene=EPAS1/NM_001430.4/1;CC=c.886+224T>C;VC=Intron;DM=EPAS1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:178:20.65:0.00:20.65:1.00:0.00:1.00:60:41.2:0:0:45:106:20:NM_001430.4(EPAS1) c.886+224T>C,NM_001430.4(EPAS1) c.886+224T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 46602678 rs7606559 C A 75 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.7422,A/0.2578;Gene=EPAS1/NM_001430.4/1;CC=c.887-151C>A;VC=Intron;DM=EPAS1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:A,G:23:23:0:0:22,1:652,32:75.26,2.31:75.26,2.31:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:70.9,66.0:0,0:0,0:37,92:114,59:20,0:NM_001430.4(EPAS1) c.887-151C>A,NM_001430.4(EPAS1) c.887-151C>A:0.28,0.28:NOT_FOUND,NOT_FOUND 2 46602722 rs7567582 T C 126 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7378,C/0.2622;Gene=EPAS1/NM_001430.4/1;CC=c.887-107T>C;VC=Intron;DM=EPAS1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:34:0:0:36:1087:125.80:110.26:15.54:1.00:1.00:1.00:60:59.6:0:0:61:90:40:NM_001430.4(EPAS1) c.887-107T>C,NM_001430.4(EPAS1) c.887-107T>C:0.28,0.28:NOT_FOUND,NOT_FOUND 2 46602977 . G . . NT END=46603677;NT GT ./. 2 46603165 rs7583088 A G 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.742,G/0.258;Gene=EPAS1/NM_001430.4/1;CC=c.1034+189A>G;VC=Intron;DM=EPAS1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:0:0:0:15:475:54.58:0.00:54.58:1.00:0.00:1.00:60:48.7:0:0:103:48:30:NM_001430.4(EPAS1) c.1034+189A>G,NM_001430.4(EPAS1) c.1034+189A>G:0.28,0.28:NOT_FOUND,NOT_FOUND 2 46603260 rs11678465 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7424,T/0.2576;Gene=EPAS1/NM_001430.4/1;CC=c.1034+284C>T;VC=Intron;DM=EPAS1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:T:6:0:0:0:6:118:14.48:0.00:14.48:1.00:0.00:1.00:60:46.8:0:0:80:70:54:NM_001430.4(EPAS1) c.1034+284C>T,NM_001430.4(EPAS1) c.1034+284C>T:0.27,0.27:NOT_FOUND,NOT_FOUND 2 46603310 rs3214773 GA G 14 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GA/0.729,G/0.271;NP=44;PC=0.006;Gene=EPAS1/NM_001430.4/1;CC=c.1034+344delA;VC=Intron;DM=EPAS1/PAS_11;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:4:4:123:14.21:3.58:10.63:1.00:1.00:1.00:60:39.2:0:0:56:95:21:NM_001430.4(EPAS1) c.1034+335delA,NM_001430.4(EPAS1) c.1034+335delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 46603438 rs7583392 A G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7424,G/0.2576;Gene=EPAS1/NM_001430.4/1;CC=c.1035-240A>G;VC=Intron;DM=EPAS1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G:5:5:0:0:1,4:30,138:0.00,14.62:0.00,14.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:57.0,34.5:0,0:0,0:27,69:110,80:0,49:-,NM_001430.4(EPAS1) c.1035-240A>G:-,0.27:-,NOT_FOUND 2 46603671 rs7557402 C G 239 nt VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.6875,A/.,G/0.3125;PC=0.122;Gene=EPAS1/NM_001430.4/1;CC=c.1035-7C>G;VC=Intron;DM=EPAS1/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:67:58:0:0:67:2079:239.35:153.94:85.41:1.00:1.00:1.00:60:35.1:0:0:35:108:23:NM_001430.4(EPAS1) c.1035-7C>G,NM_001430.4(EPAS1) c.1035-7C>G:0.33,0.33:0.42911,0.42911 2 46603893 . G . . NT END=46605032;NT GT ./. 2 46604043 rs11678817 C T 67 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.741,T/0.259;PC=0.005;Gene=EPAS1/NM_001430.4/1;CC=c.1249+151C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:0:0:0:18:585:67.08:0.00:67.08:1.00:0.00:1.00:60:52.7:0:0:91:58:34:NM_001430.4(EPAS1) c.1249+151C>T,NM_001430.4(EPAS1) c.1249+151C>T:0.28,0.28:NOT_FOUND,NOT_FOUND 2 46605227 . G . . NT END=46605795;NT GT ./. 2 46605659 rs7571218 A G 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.506,G/0.494;Gene=EPAS1/NM_001430.4/1;CC=c.1444-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:11:0:0:13:371:43.28:35.82:7.45:1.00:1.00:1.00:60:43.2:0:0:42:108:35:NM_001430.4(EPAS1) c.1444-137A>G,NM_001430.4(EPAS1) c.1444-137A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 46605907 . G . . NT END=46607365;NT GT ./. 2 46605954 rs7598371 G C 97 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7398,C/0.2602,T/.;Gene=EPAS1/NM_001430.4/1;CC=c.1554+48G>C;VC=Intron;DM=EPAS1/HIF-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:75:C:29:11:0:0:29:840:97.50:26.95:70.54:1.00:1.00:1.00:60:36.0:0:0:112:39:14:NM_001430.4(EPAS1) c.1554+48G>C,NM_001430.4(EPAS1) c.1554+48G>C:0.28,0.28:0.373597,0.373597 2 46607857 . G . . NT END=46608734;NT GT ./. 2 46608542 rs13006131 C G 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.7358,G/0.2642,T/.;Gene=EPAS1/NM_001430.4/1;CC=c.2046-193C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:449:51.57:51.57:0.00:1.00:1.00:0.00:60:41.1:0:0:62:87:24:NM_001430.4(EPAS1) c.2046-193C>G,NM_001430.4(EPAS1) c.2046-193C>G:0.29,0.29:NOT_FOUND,NOT_FOUND 2 46608862 . G . . NT END=46609113;NT GT ./. 2 46609229 . G . . NT END=46609563;NT GT ./. 2 46609738 . G . . NT END=46611647;NT GT ./. 2 46609957 rs11690950 A G 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5651,G/0.4349;Gene=EPAS1/NM_001430.4/1;CC=c.2461+220A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:235:27.28:0.00:27.28:1.00:0.00:1.00:60:86.6:0:0:62:89:27:NM_001430.4(EPAS1) c.2461+220A>G,NM_001430.4(EPAS1) c.2461+220A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 2 46609966 rs11690951 A T 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.735,T/0.265;Gene=EPAS1/NM_001430.4/1;CC=c.2461+229A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:231:26.88:0.00:26.88:1.00:0.00:1.00:60:86.6:0:0:71:80:27:NM_001430.4(EPAS1) c.2461+229A>T,NM_001430.4(EPAS1) c.2461+229A>T:0.29,0.29:NOT_FOUND,NOT_FOUND 2 46611471 rs56768253 G A 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.621,A/0.379;Gene=EPAS1/NM_001430.4/1;CC=c.2462-177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:21:0:0:21:632:73.12:73.12:0.00:1.00:1.00:0.00:60:34.9:0:0:37:111:15:NM_001430.4(EPAS1) c.2462-177G>A,NM_001430.4(EPAS1) c.2462-177G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 2 46611800 . G . . NT END=46706724;NT GT ./. 2 46636460 rs374010680 TAC T 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4;PC=0.165;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:TAC,T:6:5:0:4:2,4:61,131:0.00,13.35:0.00,8.10:0.00,5.25:0.00,0.93:0.00,0.99:0.00,0.91:60,60:71.5,0.0:0,0:0,0:57,87:93,63:49,3:-,chr2 g.46636461_46636462delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 46706468 rs4953385 G T 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4479,T/0.5521;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:148:17.18:17.18:0.00:1.00:1.00:0.00:60:93.8:0:0:41:110:20:NM_001145051.2(TMEM247) c.-21-u236G>T,NM_001145051.2(TMEM247) c.-21-u236G>T:0.55,0.55:NOT_FOUND,NOT_FOUND 2 46706512 rs3814048 C G 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5371,G/0.4629;PC=0.040 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:193:22.16:22.16:0.00:1.00:1.00:0.00:60:89.7:0:0:72:79:22:NM_001145051.2(TMEM247) c.-21-u192C>G,NM_001145051.2(TMEM247) c.-21-u192C>G:0.47,0.47:NOT_FOUND,NOT_FOUND 2 46706618 rs3814047 C G 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.4487,G/0.5513,T/.;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:28:0:0:28:945:107.81:107.81:0.00:1.00:1.00:0.00:60:38.9:0:0:55:95:27:NM_001145051.2(TMEM247) c.-21-u86C>G,NM_001145051.2(TMEM247) c.-21-u86C>G:0.55,0.55:NOT_FOUND,NOT_FOUND 2 46706842 . G . . NT END=46707543;NT GT ./. 2 46707808 rs74318890 C G 180 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=241;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;PC=1.000;Gene=TMEM247/NM_001145051.2/1;CC=c.382C>G;ProtCh=p.Q128E;VC=Missense;DM=TMEM247/TMEM247 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:241:161:0:0:174,67:5811,2097:0.00,179.82:0.00,106.46:0.00,73.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,46.3:0,0:0,0:94,22:51,98:30,14:-,NM_001145051.2(TMEM247) c.382C>G (p.Gln128Glu):-,NOT_FOUND:-,NOT_FOUND 2 46707904 . G . . NT END=46711382;NT GT ./. 2 46708129 rs13002880 C G 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7718,G/0.2282;Gene=TMEM247/NM_001145051.2/1;CC=c.477+226C>G;VC=Intron;DM=TMEM247/TMEM247 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:390:44.72:0.00:44.72:1.00:0.00:1.00:60:36.9:0:0:107:40:33:NM_001145051.2(TMEM247) c.477+226C>G,NM_001145051.2(TMEM247) c.477+226C>G:0.23,0.23:NOT_FOUND,NOT_FOUND 2 46711565 . C . . NT END=46739169;NT GT ./. 2 46739157 rs3814045 A G 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.5525,G/0.4475;Gene=ATP6V1E2/NM_080653.3/1;CC=c.*13T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:71:61:0:0:36,35:1190,1040:0.00,99.24:0.00,79.78:0.00,19.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,38.7:0,0:0,0:41,44:103,107:24,35:-,NM_080653.3(ATP6V1E2) c.*13T>C:-,0.45:-,0.391819 2 46739851 . G . . NT END=46770185;NT GT ./. 2 46770328 . G . . NT END=46770892;NT GT ./. 2 46770952 . G . . NT END=46803225;NT GT ./. 2 46771134 rs6714484 G C 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.1194,C/0.8806;Gene=RHOQ/NM_012249.3/1;CC=c.201+183G>C;VC=Intron;DM=RHOQ/Ras;DM=RHOQ/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:443:51.40:0.00:51.40:1.00:0.00:1.00:60:51.8:0:0:121:30:25:NM_012249.3(RHOQ) c.201+183G>C,NM_012249.3(RHOQ) c.201+183G>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 46802934 rs13413254 A T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.626,T/0.374;Gene=RHOQ/NM_012249.3/1;CC=c.202-292A>T;VC=Intron;Gene=LOC100506142/NR_104182.1/0;VC=NonCoding;DM=RHOQ/Ras;DM=RHOQ/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,T:5:5:0:0:2,3:62,100:0.00,9.97:0.00,9.97:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:17.0,33.3:0,0:0,0:63,17:87,131:5,11:-,NM_012249.3(RHOQ) c.202-292A>T:-,0.35:-,NOT_FOUND 2 46803391 . G . . NT END=46803699;NT GT ./. 2 46803796 . G . . NT END=46808066;NT GT ./. 2 46808223 . G . . NT END=46808616;NT GT ./. 2 46808243 rs149388763 GGA G 22 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=GGA/0.8241,G/0.1759;NP=1459;PC=0.841;Gene=RHOQ/NM_012249.3/1;CC=c.*22_*23delGA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGA,G:29:10:0:8:21,8:675,252:0.00,21.60:0.00,7.52:0.00,14.08:0.00,0.98:0.00,0.93:0.00,1.00:55,54:4.0,1.4:0,0:0,0:108,89:41,60:29,20:-,NM_012249.3(RHOQ) c.*22_*23delGA:-,0.19:-,0.21751 2 46808731 . C . . NT END=46815213;NT GT ./. 2 46815319 . C . . NT END=46818581;NT GT ./. 2 46818586 rs1901263 C T 51 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.5034,T/0.4966;PC=0.001;Gene=PIGF/NM_002643.3/0;CC=c.546+1028G>A;VC=Intron;Gene=PIGF/NM_173074.2/1;CC=c.546+1028G>A;VC=Intron;DM=PIGF/PIG-F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:35:0:0:21,17:660,542:0.00,50.94:0.00,37.70:0.00,13.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,47.4:0,0:0,0:69,56:82,95:21,32:-,NM_002643.3(PIGF) c.546+1028G>A:-,0.47:-,NOT_FOUND 2 46818992 rs17818315 C T 106 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.8185,T/0.1815;Gene=PIGF/NM_002643.3/0;CC=c.546+622G>A;VC=Intron;Gene=PIGF/NM_173074.2/1;CC=c.546+622G>A;VC=Intron;DM=PIGF/PIG-F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:55:0:0:39,35:1280,1113:0.00,105.75:0.00,56.18:0.00,49.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,39.8:0,0:0,0:81,47:68,104:31,23:-,NM_002643.3(PIGF) c.546+622G>A:-,0.18:-,NOT_FOUND 2 46819065 . C . . NT END=46819613;NT GT ./. 2 46819430 rs4953402 C G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6937,G/0.3063;Gene=PIGF/NM_002643.3/0;CC=c.546+184G>C;VC=Intron;Gene=PIGF/NM_173074.2/1;CC=c.546+184G>C;VC=Intron;DM=PIGF/PIG-F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,G:5:5:0:0:1,4:33,107:0.00,11.51:0.00,11.51:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,39.0:0,0:0,0:41,53:109,98:0,29:-,NM_002643.3(PIGF) c.546+184G>C:-,0.31:-,NOT_FOUND 2 46819723 . C . . NT END=46839366;NT GT ./. 2 46819815 rs2305350 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5467,G/0.4533;Gene=PIGF/NM_002643.3/0;CC=c.438-93T>C;VC=Intron;Gene=PIGF/NM_173074.2/1;CC=c.438-93T>C;VC=Intron;DM=PIGF/PIG-F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G:11:0:0:0:6,5:182,172:0.00,16.29:0.00,0.00:0.00,16.29:0.00,0.93:0.00,0.00:0.00,0.93:60,60:6.5,42.8:0,0:0,0:52,109:97,42:38,12:-,NM_002643.3(PIGF) c.438-93T>C:-,0.43:-,NOT_FOUND 2 46839477 rs1824050 T C 25 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8197,C/0.1803;PC=0.704;Gene=PIGF/NM_002643.3/0;CC=c.327A>G;ProtCh=p.A109=;VC=Silent;Gene=PIGF/NM_173074.2/1;CC=c.327A>G;ProtCh=p.A109=;VC=Silent;DM=PIGF/PIG-F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:16:0:0:9,15:274,492:24.78,0.00:13.61,0.00:11.17,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,70:37.6,5.7:0,0:0,0:100,87:50,44:5,33:NM_002643.3(PIGF) c.327A>G (p.(=)),-:0.18,-:0.21757,- 2 46839484 . C . . NT END=46840832;NT GT ./. 2 46840680 rs4952836 T A 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.7626,A/0.2374;PC=0.003;Gene=PIGF/NM_002643.3/0;CC=c.320+153A>T;VC=Intron;Gene=PIGF/NM_173074.2/1;CC=c.320+153A>T;VC=Intron;DM=PIGF/PIG-F GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,T:16:16:0:0:11,5:348,116:35.77,0.00:33.96,0.00:1.81,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:36.4,4.6:0,0:0,0:48,45:103,105:37,23:NM_002643.3(PIGF) c.320+153A>T,-:0.23,-:NOT_FOUND,- 2 46840925 . C . . NT END=46842075;NT GT ./. 2 46842304 . G . . NT END=46844421;NT GT ./. 2 46842410 rs2242033 A G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5226,G/0.4774;PC=0.877;Gene=PIGF/NM_002643.3/0;CC=c.-21-86T>C;VC=Intron;Gene=PIGF/NM_173074.2/1;CC=c.-21-86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:0:0:0:9,10:284,345:0.00,33.56:0.00,0.00:0.00,33.56:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.7,38.7:0,0:0,0:59,52:92,98:28,18:-,NM_002643.3(PIGF) c.-21-86T>C:-,0.43:-,NOT_FOUND 2 46844219 rs5830914 C CG 64 sb,nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=660;Gene=PIGF/NM_002643.3/0;CC=c.-133dupC;VC=5UTR;Gene=PIGF/NM_173074.2/1;CC=c.-133dupC;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G,CG:19:19:18:0:1,18:25,562:1.71,64.35:1.71,62.48:0.00,1.88:0.00,1.00:0.00,1.00:0.00,0.96:60,60:60.0,4.6:0,0:0,0:0,30:151,120:0,23:NM_002643.3(PIGF) c.-133dupC,NM_002643.3(PIGF) c.-133dupC:1,1:NOT_FOUND,NOT_FOUND 2 46844438 . G . . NT END=46845911;NT GT ./. 2 46845849 rs2122715 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.7688,G/0.2312;PC=0.188;Gene=CRIPT/NM_014171.5/1;CC=c.17-63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G:14:11:0:0:10,4:316,124:0.00,10.68:0.00,4.00:0.00,6.67:0.00,0.77:0.00,0.95:0.00,0.80:60,60:10.0,31.0:0,0:0,0:27,16:123,134:19,7:-,NM_014171.4(CRIPT) c.17-63A>G:-,0.22:-,0.290039 2 46845978 . G . . NT END=46846765;NT GT ./. 2 46846821 . G . . NT END=46850902;NT GT ./. 2 46851007 . G . . NT END=46851301;NT GT ./. 2 46851180 rs11333819 AT A 18 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=63;PC=0.004;Gene=CRIPT/NM_014171.5/1;CC=c.242-112delT;VC=Intron;DM=CRIPT/Cript;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:AT,A:17:13:0:6:11,6:359,195:0.00,17.57:0.00,11.50:0.00,6.07:0.00,0.95:0.00,0.99:0.00,0.83:60,60:30.7,40.0:0,0:0,0:65,114:86,36:41,15:-,NM_014171.4(CRIPT) c.242-121delT:-,NOT_FOUND:-,NOT_FOUND 2 46851183 rs56198684 T A 15 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8215,A/0.1785;PC=0.104;Gene=CRIPT/NM_014171.5/1;CC=c.242-119T>A;VC=Intron;DM=CRIPT/Cript GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,T:17:13:0:0:5,12:168,389:14.71,0.00:8.52,0.00:6.19,0.00:0.88,0.00:0.97,0.00:0.76,0.00:60,60:45.8,29.1:5,1:0,0:117,73:34,78:14,37:NM_014171.4(CRIPT) c.242-119T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 46851367 . A . . NT END=46985669;NT GT ./. 2 46987139 rs17771838 G A 142 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.9345,A/0.0655;PC=0.630;Gene=SOCS5/NM_014011.4/0;CC=c.1470G>A;ProtCh=p.A490=;VC=Silent;Gene=SOCS5/NM_144949.2/1;CC=c.1470G>A;ProtCh=p.A490=;VC=Silent;DM=SOCS5/SOCS_box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:44:0:0:44,42:1468,1324:141.88,0.00:55.88,0.00:86.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,3.2:0,0:0,0:78,81:72,69:29,36:NM_144949.2(SOCS5) c.1470G>A (p.(=)),-:0.06,-:0.075504,- 2 46987281 . A . . NT END=47132601;NT GT ./. 2 46987300 rs3768720 T G 62 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.2855,G/0.7145;PC=0.607;Gene=SOCS5/NM_014011.4/0;CC=c.*20T>G;VC=3UTR;Gene=SOCS5/NM_144949.2/1;CC=c.*20T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:48:18:0:0:20,28:668,923:62.18,0.00:10.35,0.00:51.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,3.0:0,0:0,0:86,90:63,57:37,18:NM_144949.2(SOCS5) c.*20T>G,-:0.68,-:0.715287,- 2 47082358 rs147461404 C CCT 10 sb,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=24;Gene=LINC01119/NR_024452.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,CCT:7:5:4:0:3,4:54,105:0.00,10.34:0.00,9.77:0.00,0.57:0.00,0.90:0.00,0.98:0.00,0.97:60,60:70.3,33.2:0,0:0,0:4,46:103,64:0,0:-,NR_024452.1(LOC100134259) n.222-704_222-703insCT:-,NOT_FOUND:-,NOT_FOUND 2 47082373 rs6734058 G C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3165,C/0.6835;PC=0.009;Gene=LINC01119/NR_024452.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:6:0:0:7:242:27.54:17.35:10.19:1.00:1.00:1.00:60:56.9:0:0:63:48:6:NR_024452.1(LOC100134259) n.222-689G>C,NR_024452.1(LOC100134259) n.222-689G>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 47132734 . C . . NT END=47134948;NT GT ./. 2 47135109 . C . . NT END=47136161;NT GT ./. 2 47136317 . C . . NT END=47142861;NT GT ./. 2 47142755 rs186588514 C T 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9974,T/0.002596;Gene=MCFD2/NM_001171506.2/1;CC=c.-101+107G>A;VC=Intron;Gene=MCFD2/NM_001171509.2/0;CC=c.-8+107G>A;VC=Intron;Gene=MCFD2/NM_139279.5/0;CC=c.-7+107G>A;VC=Intron;Gene=MCFD2/NM_001171507.2/0;CC=c.-7+365G>A;VC=Intron;Gene=MCFD2/NM_001171510.2/0;CC=c.-8+365G>A;VC=Intron;Gene=MCFD2/NM_001171508.2/0;CC=c.-6-6439G>A;VC=Intron;Gene=MCFD2/NM_001171511.2/0;CC=c.93-7647G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:C,T:14:14:0:0:8,6:261,170:0.00,15.70:0.00,15.70:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:8.6,32.7:0,0:0,0:57,38:93,113:16,23:-,NM_001171507.2(MCFD2) c.-7+365G>A:-,0.01:-,NOT_FOUND 2 47142950 . GCCCCC C,G 19 idl VT=SNV;PN=C;NN=C;SST=Single;DP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:33:A,C,GCCCCC,G:19:12:0:14:1,8,5,5:12,196,112,255:0.37,18.81,0.00,13.05:0.40,15.76,0.00,-0.30:-0.04,3.05,0.00,13.36:0.00,0.99,0.00,0.00:0.00,0.99,0.00,0.00:0.00,0.99,0.00,0.00:60,60,60,60:12.0,40.4,48.8,76.0:0,1,0,4:0,0,0,0:128,108,133,76:17,17,14,75:0,11,7,15:NM_001171507.2(MCFD2) c.-7+166_-7+170delGGGGC,NM_001171507.2(MCFD2) c.-7+165_-7+169delGGGGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 47143008 . g . . NT END=47143119;NT GT ./. 2 47143252 . G . . NT END=47168680;NT GT ./. 2 47168803 . G . . NT END=47177501;NT GT ./. 2 47177666 . G . . NT END=47183977;NT GT ./. 2 47184147 . G . . NT END=47185633;NT GT ./. 2 47184490 rs4953437 C T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3586,T/0.6414;Gene=TTC7A/NM_001288953.1/1;CC=c.415+344C>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.517+344C>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-388+344C>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.517+344C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:35.0:0:0:123:27:19:NM_020458.2(TTC7A) c.517+344C>T,NM_020458.2(TTC7A) c.517+344C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 2 47185438 rs4952856 G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7266,A/0.2734;Gene=TTC7A/NM_001288953.1/1;CC=c.415+1292G>A;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.517+1292G>A;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-388+1292G>A;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.517+1292G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:7:7:0:0:5,2:160,57:16.57,0.00:16.57,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:43.8,10.5:0,0:0,0:8,49:143,101:6,8:NM_020458.2(TTC7A) c.517+1292G>A,-:0.31,-:NOT_FOUND,- 2 47185692 . G . . NT END=47202111;NT GT ./. 2 47185960 rs877047 T G 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6324,G/0.3676;PC=0.002;Gene=TTC7A/NM_001288953.1/1;CC=c.415+1814T>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.517+1814T>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-388+1814T>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.517+1814T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:G,T:6:0:0:0:4,2:138,58:14.05,0.00:0.00,0.00:14.05,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:34.5,32.5:0,0:0,0:106,74:45,75:26,68:NM_020458.2(TTC7A) c.517+1814T>G,-:0.4,-:NOT_FOUND,- 2 47201797 rs6745836 A T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3051,T/0.6949;PC=0.004;Gene=TTC7A/NM_001288953.1/1;CC=c.416-315A>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.518-315A>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-387-315A>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.518-315A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:162:18.98:18.98:0.00:1.00:1.00:0.00:60:41.7:0:0:39:112:10:NM_020458.2(TTC7A) c.518-315A>T,NM_020458.2(TTC7A) c.518-315A>T:0.68,0.68:NOT_FOUND,NOT_FOUND 2 47201988 rs72888545 C T 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.9481,T/0.05192;Gene=TTC7A/NM_001288953.1/1;CC=c.416-124C>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.518-124C>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-387-124C>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.518-124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:56:0:0:30,30:916,1028:0.00,99.06:0.00,89.58:0.00,9.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,40.9:30,0:0,0:28,26:121,124:14,23:-,NM_020458.2(TTC7A) c.518-124C>T:-,0.05:-,NOT_FOUND 2 47201991 rs67758600 CT C 89 nt VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=CT/0.5982,C/0.4018;NP=1624;Gene=TTC7A/NM_001288953.1/1;CC=c.416-120delT;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.518-120delT;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-387-120delT;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.518-120delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:61:57:0:30:31,30:991,932:0.00,89.15:0.00,77.60:0.00,11.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.5,11.5:0,0:0,0:27,31:124,118:21,14:-,NM_020458.2(TTC7A) c.518-120delT:-,0.44:-,NOT_FOUND 2 47202243 . G . . NT END=47205930;NT GT ./. 2 47206047 . G . . NT END=47220588;NT GT ./. 2 47220448 rs60188383 C CT 50 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.8632,CT/0.1368;DB;DBA=NA;PAF=C/0.8632,CT/0.1368;NP=685;PC=0.828;Gene=TTC7A/NM_001288953.1/1;CC=c.663-140dupT;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.765-140dupT;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-140-140dupT;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.765-140dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:26:26:16:0:10,16:344,498:0.00,49.90:0.00,49.90:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:3.4,12.2:0,0:0,0:35,28:115,122:20,10:-,NM_020458.2(TTC7A) c.765-141_765-140insT:-,0.13:-,NOT_FOUND 2 47220622 rs17480869 G A 138 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.8632,A/0.1368;PC=0.999;Gene=TTC7A/NM_001288953.1/1;CC=c.696G>A;ProtCh=p.E232=;VC=Silent;Gene=TTC7A/NM_001288951.1/0;CC=c.798G>A;ProtCh=p.E266=;VC=Silent;Gene=TTC7A/NM_001288955.1/0;CC=c.-107G>A;VC=5UTR;Gene=TTC7A/NM_020458.3/0;CC=c.798G>A;ProtCh=p.E266=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:70:0:0:44,55:1463,1824:137.75,0.00:61.44,0.00:76.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,7.8:0,0:0,0:78,90:62,56:27,33:NM_020458.2(TTC7A) c.798G>A (p.(=)),-:0.13,-:0.164386,- 2 47220668 . G . . NT END=47221495;NT GT ./. 2 47220784 rs6751599 G A 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8636,A/0.1364,C/.,T/.;Gene=TTC7A/NM_001288953.1/1;CC=c.741+117G>A;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.843+117G>A;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-62+117G>A;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.843+117G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:0:0:0:15,11:493,369:48.76,0.00:0.00,0.00:48.76,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.0,5.7:0,0:0,0:92,113:57,38:49,30:NM_020458.2(TTC7A) c.843+117G>A,-:0.13,-:NOT_FOUND,- 2 47221193 rs6754795 C T 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.863,T/0.137;PC=0.152;Gene=TTC7A/NM_001288953.1/1;CC=c.742-303C>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.844-303C>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-62+526C>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.844-303C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:108:12.65:12.65:0.00:1.00:1.00:0.00:60:71.0:0:0:68:80:1:NM_020458.2(TTC7A) c.844-303C>T,NM_020458.2(TTC7A) c.844-303C>T:0.13,0.13:NOT_FOUND,NOT_FOUND 2 47221197 rs6755001 G C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8628,C/0.1372;PC=0.165;Gene=TTC7A/NM_001288953.1/1;CC=c.742-299G>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.844-299G>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-62+530G>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.844-299G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:113:13.15:13.15:0.00:1.00:1.00:0.00:60:71.0:0:0:72:76:1:NM_020458.2(TTC7A) c.844-299G>C,NM_020458.2(TTC7A) c.844-299G>C:0.13,0.13:NOT_FOUND,NOT_FOUND 2 47221654 . G . . NT END=47222274;NT GT ./. 2 47221693 rs7576915 A G 109 nt VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.8626,G/0.1374;Gene=TTC7A/NM_001288953.1/1;CC=c.899+40A>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1001+40A>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.-61-582A>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1001+40A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:26:0:0:38,35:1174,1141:0.00,108.87:0.00,20.88:0.00,87.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,35.8:0,0:0,0:103,77:34,73:26,28:-,NM_020458.2(TTC7A) c.1001+40A>G:-,0.13:-,0.164463 2 47222339 . G . . NT END=47226583;NT GT ./. 2 47226394 rs72872910 T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9093,C/0.09065;PC=0.002;Gene=TTC7A/NM_001288953.1/1;CC=c.963+4056T>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1065+4056T>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.3+4056T>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1065+4056T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:C,T:4:4:0:0:3,1:69,25:7.32,0.00:7.32,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:65.7,0.0:0,0:0,0:100,60:40,91:11,0:NM_020458.2(TTC7A) c.1065+4056T>C,-:0.09,-:NOT_FOUND,- 2 47226469 rs56274518 G A 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7087,A/0.2913;PC=0.001;Gene=TTC7A/NM_001288953.1/1;CC=c.963+4131G>A;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1065+4131G>A;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.3+4131G>A;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1065+4131G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:A,G:11:11:0:0:6,5:160,151:15.57,0.00:15.57,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:73.2,0.0:0,0:0,0:53,39:98,112:19,15:NM_020458.2(TTC7A) c.1065+4131G>A,-:0.27,-:NOT_FOUND,- 2 47227033 . G . . NT END=47233060;NT GT ./. 2 47227146 rs13402320 T G 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.7414,G/0.2586;Gene=TTC7A/NM_001288953.1/1;CC=c.963+4808T>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1065+4808T>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.3+4808T>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1065+4808T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:45:4:0:0:23,22:695,709:66.89,0.00:2.79,0.00:64.09,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:44.8,7.2:0,0:0,0:113,82:38,69:23,29:NM_020458.2(TTC7A) c.1065+4808T>G,-:0.24,-:NOT_FOUND,- 2 47227353 rs57770875 G T 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9181,T/0.08187;PC=0.002;Gene=TTC7A/NM_001288953.1/1;CC=c.963+5015G>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1065+5015G>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.3+5015G>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1065+5015G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T:5:0:0:0:1,4:34,130:0.00,13.82:0.00,0.00:0.00,13.82:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,35.0:0,0:0,0:55,107:96,43:0,2:-,NM_020458.2(TTC7A) c.1065+5015G>T:-,0.08:-,NOT_FOUND 2 47233048 rs13407983 G A 170 nt VT=SNV;PN=T;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.855,A/0.145;PC=0.001;Gene=TTC7A/NM_001288953.1/1;CC=c.964-13G>A;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1066-13G>A;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.4-13G>A;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1066-13G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:90:0:0:54,40:1717,1306:169.55,0.00:129.22,0.00:40.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,10.9:0,0:0,0:55,44:82,96:34,35:NM_020458.2(TTC7A) c.1066-13G>A,-:0.14,-:0.181762,- 2 47233199 . G . . NT END=47233779;NT GT ./. 2 47233328 . CA C 35 idl,nt VT=DEL;SST=Single;DP=30;Gene=TTC7A/NM_001288953.1/1;CC=c.1101+132delA;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1203+132delA;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.141+132delA;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1203+132delA;VC=Intron;DM=TTC7A/TPR_9;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:30:4:0:12:18,12:583,378:0.00,34.76:0.00,-0.67:0.00,35.42:0.00,1.00:0.00,0.87:0.00,1.00:60,60:2.9,8.6:0,12:0,0:127,101:23,48:18,14:-,NM_020458.2(TTC7A) c.1203+131delA:-,NOT_FOUND:-,NOT_FOUND 2 47233331 rs200441134 G GACTTGACC 39 idl,nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9411,GACC/0.05891,GCTTGACC/.;PC=0.003;Gene=TTC7A/NM_001288953.1/1;CC=c.1101+133_1101+134insACTTGACC;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1203+133_1203+134insACTTGACC;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.141+133_141+134insACTTGACC;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1203+133_1203+134insACTTGACC;VC=Intron;DM=TTC7A/TPR_9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GACTTGACC:25:2:13:0:12,13:398,402:0.00,38.88:0.00,-0.48:0.00,39.36:0.00,1.00:0.00,0.81:0.00,1.00:60,60:1.7,7.9:0,13:0,0:113,100:37,48:30,17:-,NM_020458.2(TTC7A) c.1203+133_1203+134insACTTGACC:-,NOT_FOUND:-,NOT_FOUND 2 47233749 rs13424540 T C 66 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.8468,C/0.1532;Gene=TTC7A/NM_001288953.1/1;CC=c.1102-31T>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1204-31T>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.142-31T>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1204-31T>C;VC=Intron;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:29:0:0:20,17:680,559:66.46,0.00:43.03,0.00:23.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,4.1:0,0:0,0:43,36:107,113:26,17:NM_020458.2(TTC7A) c.1204-31T>C,-:0.15,-:0.187759,- 2 47233864 . G . . NT END=47238469;NT GT ./. 2 47238575 . G . . NT END=47249000;NT GT ./. 2 47238631 rs55944397 C T 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9463,T/0.05371;Gene=TTC7A/NM_001288953.1/1;CC=c.1290+57C>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1392+57C>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.330+57C>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1392+57C>T;VC=Intron;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:4:0:0:25,19:812,559:0.00,51.86:0.00,4.60:0.00,47.26:0.00,1.00:0.00,0.90:0.00,1.00:60,60:2.8,33.7:0,0:0,0:118,119:33,32:22,22:-,NM_020458.2(TTC7A) c.1392+57C>T:-,0.06:-,NOT_FOUND 2 47248745 rs7592145 C T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9275,T/0.07248;Gene=TTC7A/NM_001288953.1/1;CC=c.1291-256C>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1393-256C>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.331-256C>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1393-256C>T;VC=Intron;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,92:0.00,9.65:0.00,9.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,68.3:0,0:0,0:8,41:141,110:0,18:-,NM_020458.2(TTC7A) c.1393-256C>T:-,0.06:-,NOT_FOUND 2 47248833 rs7565682 A G 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8874,G/0.1126;Gene=TTC7A/NM_001288953.1/1;CC=c.1291-168A>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1393-168A>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.331-168A>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1393-168A>G;VC=Intron;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:9:9:0:0:4,5:125,175:0.00,17.20:0.00,17.20:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:37.0,80.4:0,0:0,0:34,85:117,66:25,44:-,NM_020458.2(TTC7A) c.1393-168A>G:-,0.1:-,NOT_FOUND 2 47248834 rs7565683 A C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8874,C/0.1126;Gene=TTC7A/NM_001288953.1/1;CC=c.1291-167A>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1393-167A>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.331-167A>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1393-167A>C;VC=Intron;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,C:9:9:0:0:4,5:125,150:0.00,14.67:0.00,14.67:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:37.0,80.4:0,0:0,0:35,86:116,65:25,44:-,NM_020458.2(TTC7A) c.1393-167A>C:-,0.1:-,NOT_FOUND 2 47249119 . G . . NT END=47250546;NT GT ./. 2 47249239 rs3814036 A G 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.594,G/0.406;Gene=TTC7A/NM_001288953.1/1;CC=c.1408+121A>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1510+121A>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.448+121A>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1510+121A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:14:0:0:0:5,9:97,315:0.00,31.89:0.00,0.00:0.00,31.89:0.00,1.00:0.00,0.00:0.00,1.00:60,60:26.0,36.3:0,0:0,0:109,83:42,67:9,25:-,NM_020458.2(TTC7A) c.1510+121A>G:-,0.45:-,NOT_FOUND 2 47250605 . G . . NT END=47251425;NT GT ./. 2 47250819 rs12988535 A G 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6687,G/0.3313;PC=0.002;Gene=TTC7A/NM_001288953.1/1;CC=c.1466+215A>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1568+215A>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.506+215A>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1568+215A>G;VC=Intron;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,G:7:1:0:0:4,3:138,82:0.00,7.54:0.00,1.85:0.00,5.69:0.00,0.69:0.00,0.62:0.00,0.69:60,60:2.8,31.0:0,0:0,0:71,96:79,55:4,10:-,NM_020458.2(TTC7A) c.1568+215A>G:-,0.3:-,NOT_FOUND 2 47251499 . G . . NT END=47256362;NT GT ./. 2 47251510 rs11885389 G C 109 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.8476,A/.,C/0.1524;Gene=TTC7A/NM_001288953.1/1;CC=c.1539+12G>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1641+12G>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.579+12G>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1641+12G>C;VC=Intron;DM=TTC7A/TPR_9;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:71:42:0:0:34,37:1140,1207:108.86,0.00:31.62,0.00:77.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,9.7:0,0:0,0:106,89:37,59:26,33:NM_020458.2(TTC7A) c.1641+12G>C,-:0.13,-:0.167102,- 2 47251634 rs6713052 T C 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.2796,C/0.7204;PC=0.002;Gene=TTC7A/NM_001288953.1/1;CC=c.1539+136T>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1641+136T>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.579+136T>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1641+136T>C;VC=Intron;DM=TTC7A/TPR_9;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,T:16:1:0:0:6,10:185,311:16.77,0.00:-0.10,0.00:16.87,0.00:0.95,0.00:0.58,0.00:0.95,0.00:60,60:93.8,9.7:0,0:0,0:107,126:44,24:33,15:NM_020458.2(TTC7A) c.1641+136T>C,-:0.67,-:NOT_FOUND,- 2 47251698 rs13400315 T C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8195,C/0.1805;Gene=TTC7A/NM_001288953.1/1;CC=c.1539+200T>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1641+200T>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.579+200T>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1641+200T>C;VC=Intron;DM=TTC7A/TPR_9;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:6:0:0:0:4,2:114,69:11.65,0.00:0.00,0.00:11.65,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:123.0,0.0:0,0:0,0:97,118:53,32:27,26:NM_020458.2(TTC7A) c.1641+200T>C,-:0.17,-:NOT_FOUND,- 2 47251725 rs72806599 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8399,A/0.1601;Gene=TTC7A/NM_001288953.1/1;CC=c.1539+227G>A;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1641+227G>A;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.579+227G>A;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1641+227G>A;VC=Intron;DM=TTC7A/TPR_9;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:0:0:0:3,1:76,35:8.05,0.00:0.00,0.00:8.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:144.3,0.0:0,0:0,0:119,119:32,31:10,0:NM_020458.2(TTC7A) c.1641+227G>A,-:0.14,-:NOT_FOUND,- 2 47251727 rs74443796 C G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9513,A/.,G/0.04872;Gene=TTC7A/NM_001288953.1/1;CC=c.1539+229C>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1641+229C>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.579+229C>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1641+229C>G;VC=Intron;DM=TTC7A/TPR_9;DM=TTC7A/TPR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G:4:0:0:0:1,3:33,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,144.3:0,0:0,0:121,121:29,30:0,10:-,NM_020458.2(TTC7A) c.1641+229C>G:-,0.04:-,NOT_FOUND 2 47256524 . G . . NT END=47273453;NT GT ./. 2 47273571 . G . . NT END=47274404;NT GT ./. 2 47273668 rs12712986 G A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7718,A/0.2282;Gene=TTC7A/NM_001288953.1/1;CC=c.1817+98G>A;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1919+98G>A;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.857+98G>A;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1919+98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,C,G:14:0:0:0:8,1,5:256,10,175:25.63,0.29,0.00:0.00,0.00,0.00:25.63,0.29,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.1,146.0,1.8:0,0,0:0,0,0:83,139,115:66,12,36:22,0,8:NM_020458.2(TTC7A) c.1919+98G>A,-:0.25,-:NOT_FOUND,- 2 47274255 rs147261315 G C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=TTC7A/NM_001288953.1/1;CC=c.1817+685G>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1920-150G>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.857+685G>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1919+685G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,G:9:9:0:0:7,2:239,70:25.17,0.00:25.17,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.1,0.0:0,0:0,0:33,36:117,114:25,25:NM_020458.2(TTC7A) c.1919+685G>C,-:0.0005,-:NOT_FOUND,- 2 47274477 . G . . NT END=47277087;NT GT ./. 2 47277035 rs77908208 C T 69 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.9343,T/0.06569;PC=0.001;Gene=TTC7A/NM_001288953.1/1;CC=c.1818-53C>T;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.1992-53C>T;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.858-53C>T;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.1920-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:36:0:0:22,21:714,719:0.00,68.98:0.00,49.53:0.00,19.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,37.9:0,0:0,0:46,34:104,117:35,21:-,NM_020458.2(TTC7A) c.1920-53C>T:-,0.06:-,NOT_FOUND 2 47277186 . G . . NT END=47278884;NT GT ./. 2 47277207 rs3816066 C A 68 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.389,A/0.611,T/.;Gene=TTC7A/NM_001288953.1/1;CC=c.1915+22C>A;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.2089+22C>A;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.955+22C>A;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.2017+22C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:39:15:0:0:20,19:698,626:67.61,0.00:19.03,0.00:48.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:78.3,1.8:0,0:0,0:86,118:52,33:34,25:NM_020458.2(TTC7A) c.2017+22C>A,-:0.5,-:0.08104,- 2 47277208 rs3816065 A G 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.387,G/0.613,T/.;Gene=TTC7A/NM_001288953.1/1;CC=c.1915+23A>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.2089+23A>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.955+23A>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.2017+23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:14:0:0:19,20:599,697:0.00,67.51:0.00,19.08:0.00,48.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,77.4:0,0:0,0:119,91:32,51:21,31:-,NM_020458.2(TTC7A) c.2017+23A>G:-,0.5:-,0.087806 2 47279020 . G . . NT END=47281227;NT GT ./. 2 47281345 . c . . NT END=47287907;NT GT ./. 2 47281394 rs59837889 AACAGTTT A 15 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=AACAGTTT/0.4093,A/0.5907;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=AACAGTTT/0.4093,A/0.5907;NP=467;PC=0.147;Gene=TTC7A/NM_001288953.1/1;CC=c.2050+2387_2050+2393delTTTACAG;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.2224+2387_2224+2393delTTTACAG;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.1090+2387_1090+2393delTTTACAG;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.2152+2387_2152+2393delTTTACAG;VC=Intron;DM=TTC7A/TPR_11;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:AACAGTTT,A:30:9:0:6:24,6:744,187:0.00,15.05:0.00,2.69:0.00,12.36:0.00,0.90:0.00,0.82:0.00,0.99:60,60:8.9,0.0:0,0:0,0:114,119:37,30:27,6:-,NM_020458.2(TTC7A) c.2152+2376_2152+2382delACAGTTT:-,0.57:-,NOT_FOUND 2 47287594 rs2570514 T G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4349,G/0.5651;PC=0.559;Gene=TTC7A/NM_001288953.1/1;CC=c.2051-314T>G;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.2225-314T>G;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.1091-314T>G;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.2153-314T>G;VC=Intron;DM=TTC7A/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:192:22.06:22.06:0.00:1.00:1.00:0.00:60:37.8:0:0:39:111:21:NM_020458.2(TTC7A) c.2153-314T>G,NM_020458.2(TTC7A) c.2153-314T>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 47288111 . G . . NT END=47300840;NT GT ./. 2 47288401 rs940737 G C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1086,C/0.8914;Gene=TTC7A/NM_001288953.1/1;CC=c.2253+291G>C;VC=Intron;Gene=TTC7A/NM_001288951.1/0;CC=c.2427+291G>C;VC=Intron;Gene=TTC7A/NM_001288955.1/0;CC=c.1293+291G>C;VC=Intron;Gene=TTC7A/NM_020458.3/0;CC=c.2355+291G>C;VC=Intron;DM=TTC7A/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:0:0:0:5:116:13.92:0.00:13.92:1.00:0.00:1.00:60:48.4:0:0:60:90:34:NM_020458.2(TTC7A) c.2355+291G>C,NM_020458.2(TTC7A) c.2355+291G>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 47301063 . C . . NT END=47314146;NT GT ./. 2 47314048 rs2280647 T C 32 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6687,C/0.3313;PC=0.081 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:34:0:0:12,22:362,736:32.31,0.00:31.21,0.00:1.10,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:84.2,33.6:0,0:0,0:35,51:115,100:19,24:chr2 g.47314047T>C (intergenic),-:0.31,-:NOT_FOUND,- 2 47314052 rs1474394 T C 137 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.08566,C/0.9143 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:36:0:0:36:1200:137.10:116.92:20.19:1.00:1.00:1.00:60:52.4:0:0:39:111:26:chr2 g.47314051T>C (intergenic),chr2 g.47314051T>C (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 2 47314270 . C . . NT END=47317408;NT GT ./. 2 47314451 rs61274551 C T 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6741,T/0.3259;Gene=C2orf61/NM_001163561.1/1;CC=c.625-182G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:12,9:405,284:0.00,26.46:0.00,0.00:0.00,26.46:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.9,59.2:0,0:0,0:124,72:26,79:8,34:-,NM_001163561.1(C2orf61) c.625-182G>A:-,0.31:-,NOT_FOUND 2 47314492 rs10865215 A G 52 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.08586,G/0.9141;Gene=C2orf61/NM_001163561.1/1;CC=c.625-223T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:0:0:0:14:450:51.65:0.00:51.65:1.00:0.00:1.00:60:52.6:0:0:103:48:25:NM_001163561.1(C2orf61) c.625-223T>C,NM_001163561.1(C2orf61) c.625-223T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 47317514 . C . . NT END=47356992;NT GT ./. 2 47357135 . C . . NT END=47357334;NT GT ./. 2 47357400 . C . . NT END=47378396;NT GT ./. 2 47357458 rs58184321 A G 110 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2929,G/0.7071;Gene=C2orf61/NM_001163561.1/1;CC=c.400-59T>C;VC=Intron;Gene=C2orf61/NM_173649.2/0;CC=c.400-59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:6:0:0:28:964:109.75:18.15:91.61:1.00:1.00:1.00:60:42.1:0:0:85:65:32:NM_001163561.1(C2orf61) c.400-59T>C,NM_001163561.1(C2orf61) c.400-59T>C:0.71,0.71:0.653088,0.653088 2 47357564 rs59073987 A T 57 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4151,T/0.5849;PC=0.756;Gene=C2orf61/NM_001163561.1/1;CC=c.400-165T>A;VC=Intron;Gene=C2orf61/NM_173649.2/0;CC=c.400-165T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:0:0:0:16:497:57.32:0.00:57.32:1.00:0.00:1.00:60:52.1:0:0:79:71:35:NM_001163561.1(C2orf61) c.400-165T>A,NM_001163561.1(C2orf61) c.400-165T>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 47366546 rs539232476 A ATT 16 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1839,AT/.,ATT/0.8161,ATTT/.;DB;DBA=NA;PAF=A/0.1839,ATT/0.8161;DB;DBA=NA;PAF=A/0.7676,T/0.2324;NP=1;NP=1;NP=109;NP=2;PC=0.001;Gene=C2orf61/NM_001163561.1/1;CC=c.400-9148_400-9147insAA;VC=Intron;Gene=C2orf61/NM_173649.2/0;CC=c.400-9148_400-9147insAA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,ATT:7:10:9:0:2,5:17,283:0.00,15.79:0.00,12.75:0.00,3.03:0.00,0.93:0.00,0.99:0.00,0.64:60,60:32.0,53.6:0,4:0,0:121,41:12,110:18,22:-,NM_001163561.1(C2orf61) c.400-9148_400-9147insAA:-,NOT_FOUND:-,NOT_FOUND 2 47378655 . C . . NT END=47380095;NT GT ./. 2 47378855 rs2454081 A T 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1308,T/0.8692;Gene=C2orf61/NM_001163561.1/1;CC=c.142-201T>A;VC=Intron;Gene=C2orf61/NM_173649.2/0;CC=c.142-201T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:0:0:0:15:451:52.18:0.00:52.18:1.00:0.00:1.00:60:42.5:0:0:103:47:13:NM_001163561.1(C2orf61) c.142-201T>A,NM_001163561.1(C2orf61) c.142-201T>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 47380156 . C . . NT END=47382309;NT GT ./. 2 47380203 rs815809 T C 113 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3724,C/0.6276;PC=0.010;Gene=C2orf61/NM_001163561.1/1;CC=c.82-48A>G;VC=Intron;Gene=C2orf61/NM_173649.2/0;CC=c.82-48A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:14:0:0:31:980:112.77:35.09:77.68:1.00:1.00:1.00:60:40.2:0:0:122:29:20:NM_001163561.1(C2orf61) c.82-48A>G,NM_001163561.1(C2orf61) c.82-48A>G:0.67,0.67:0.626943,0.626943 2 47382214 rs815806 C G 97 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.00619,G/0.9938;Gene=C2orf61/NM_001163561.1/1;CC=c.81+96G>C;VC=Intron;Gene=C2orf61/NM_173649.2/0;CC=c.81+96G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:26:0:0:26:842:96.60:90.93:5.67:1.00:1.00:1.00:60:33.2:0:0:50:101:29:NM_001163561.1(C2orf61) c.81+96G>C,NM_001163561.1(C2orf61) c.81+96G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 47382391 . G . . NT END=47387914;NT GT ./. 2 47382606 rs13026158 T A 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.2823,A/0.7177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:365:42.21:0.00:42.21:1.00:0.00:1.00:60:46.2:0:0:123:27:17:NM_001163561.1(C2orf61) c.-127-u89A>T,NM_001163561.1(C2orf61) c.-127-u89A>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 47387944 . C . . NT END=47388861;NT GT ./. 2 47387989 rs70940659 CAAA C 18 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.508;Gene=CALM2/NM_001305626.1/0;CC=c.314-49_314-47delTTT;VC=Intron;Gene=CALM2/NM_001305624.1/0;CC=c.566-49_566-47delTTT;VC=Intron;Gene=CALM2/NM_001743.5/0;CC=c.422-49_422-47delTTT;VC=Intron;Gene=CALM2/NM_001305625.1/1;CC=c.314-49_314-47delTTT;VC=Intron;DM=CALM2/EF-hand_7;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAAA,T,C:16:17:0:17:9,1,6:236,9,422:0.00,0.10,17.99:0.00,0.20,12.42:0.00,-0.11,5.57:0.00,0.00,0.92:0.00,0.00,0.98:0.00,0.00,0.94:60,60,60:5.8,125.0,42.0:0,0,7:0,0,0:144,120,82:7,25,68:5,0,15:-,NM_001743.4(CALM2) c.422-49_422-47delTTT:-,NOT_FOUND:-,NOT_FOUND 2 47388765 rs573997516 C G 96 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.1056,G/0.8944;DB;DBA=NA;PAF=NA;Gene=CALM2/NM_001305626.1/0;CC=c.313+97G>C;VC=Intron;Gene=CALM2/NM_001305624.1/0;CC=c.565+97G>C;VC=Intron;Gene=CALM2/NM_001743.5/0;CC=c.421+97G>C;VC=Intron;Gene=CALM2/NM_001305625.1/1;CC=c.313+97G>C;VC=Intron;DM=CALM2/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:25:0:0:25:844:96.30:88.29:8.00:1.00:1.00:1.00:60:78.0:0:0:65:86:30:NM_001743.4(CALM2) c.421+97G>C,NM_001743.4(CALM2) c.421+97G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 47388766 rs2454085 A G 92 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.01438,G/0.9856;Gene=CALM2/NM_001305626.1/0;CC=c.313+96T>C;VC=Intron;Gene=CALM2/NM_001305624.1/0;CC=c.565+96T>C;VC=Intron;Gene=CALM2/NM_001743.5/0;CC=c.421+96T>C;VC=Intron;Gene=CALM2/NM_001305625.1/1;CC=c.313+96T>C;VC=Intron;DM=CALM2/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:25:0:0:25:801:91.96:84.41:7.55:1.00:1.00:1.00:60:78.0:0:0:52:99:29:NM_001743.4(CALM2) c.421+96T>C,NM_001743.4(CALM2) c.421+96T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 47388998 . C . . NT END=47389424;NT GT ./. 2 47389532 . C . . NT END=47389657;NT GT ./. 2 47389802 . C . . NT END=47397872;NT GT ./. 2 47390026 rs1027478 C T 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5276,T/0.4724;PC=0.118;Gene=CALM2/NM_001305626.1/0;CC=c.-74-225G>A;VC=Intron;Gene=CALM2/NM_001305624.1/0;CC=c.179-225G>A;VC=Intron;Gene=CALM2/NM_001743.5/0;CC=c.35-225G>A;VC=Intron;Gene=CALM2/NM_001305625.1/1;CC=c.-74-225G>A;VC=Intron;DM=CALM2/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:189:21.76:0.00:21.76:1.00:0.00:1.00:60:41.8:0:0:94:56:16:NM_001743.4(CALM2) c.35-225G>A,NM_001743.4(CALM2) c.35-225G>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 47397904 . C . . NT END=47399552;NT GT ./. 2 47399599 . C . . NT END=47403579;NT GT ./. 2 47404072 . A . . NT END=47596644;NT GT ./. 2 47596721 . G . . NT END=47600601;NT GT ./. 2 47600710 . G . . NT END=47600946;NT GT ./. 2 47601106 rs1126497 T C 235 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.3339,C/0.6661;PC=0.328;Gene=EPCAM/NM_002354.2/1;CC=c.344T>C;ProtCh=p.M115T;VC=Missense;DM=EPCAM/Thyroglobulin_1;DM=EPCAM/Thyroglobulin_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:149:88:0:0:77,72:2428,2381:234.64,0.00:92.37,0.00:142.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,3.2:0,0:0,0:92,81:59,62:31,33:NM_002354.2(EPCAM) c.344T>C (p.Met115Thr),-:0.66,-:0.566738,- 2 47601188 . G . . NT END=47602372;NT GT ./. 2 47602196 rs62139666 C T 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.979,T/0.02097;PC=0.001;Gene=EPCAM/NM_002354.2/1;CC=c.426-177C>T;VC=Intron;DM=EPCAM/Thyroglobulin_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,T:5:5:0:0:2,3:49,98:0.00,9.78:0.00,9.78:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:31.0,37.0:0,0:0,0:94,18:55,133:50,8:-,NM_002354.2(EPCAM) c.426-177C>T:-,0.01:-,NOT_FOUND 2 47602439 . G . . NT END=47604152;NT GT ./. 2 47604217 . G . . NT END=47606091;NT GT ./. 2 47606194 . G . . NT END=47606907;NT GT ./. 2 47606774 rs3923559 A G 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.3395,G/0.6605;Gene=EPCAM/NM_002354.2/1;CC=c.658-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:20:19:0:0:9,10,1:291,303,10:0.00,29.33,0.16:0.00,29.63,0.18:0.00,-0.30,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.67,0.00:60,60,60:8.0,37.7,50.0:0,0,0:0,0,0:25,42,126:126,108,24:10,30,0:-,NM_002354.2(EPCAM) c.658-134A>G:-,0.66:-,NOT_FOUND 2 47607109 . G . . NT END=47612304;NT GT ./. 2 47612350 . G . . NT END=47613710;NT GT ./. 2 47613699 rs62139669 T C 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.974,C/0.02596;Gene=EPCAM/NM_002354.2/1;CC=c.904-12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:25:0:0:18,17:618,565:59.86,0.00:27.00,0.00:32.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,7.2:0,0:0,0:54,72:72,63:34,25:NM_002354.2(EPCAM) c.904-12T>C,-:0.03,-:0.029394,- 2 47613753 . C . . NT END=47630330;NT GT ./. 2 47630542 . G . . NT END=47635539;NT GT ./. 2 47630550 rs2303426 C G 108 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=in-clinvar;PAF=C/0.3716,A/.,G/0.6284;Gene=MSH2/NM_000251.2/1;CC=c.211+9C>G;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.13+9C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:95:45:0:0:56,39:1724,1172:0.00,107.80:0.00,32.26:0.00,75.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,51.0:0,0:0,0:100,109:47,42:22,26:-,NM_000251.2(MSH2) c.211+9C>G:-,0.62:-,0.475875 2 47630639 rs3815865 T C 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=in-clinvar;PAF=T/0.3728,C/0.6272;Gene=MSH2/NM_000251.2/1;CC=c.211+98T>C;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.13+98T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:0:0:0:18,24:496,787:45.67,0.00:0.00,0.00:45.67,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.7,9.0:0,0:0,0:98,77:52,73:12,39:NM_000251.2(MSH2) c.211+98T>C,-:0.62,-:NOT_FOUND,- 2 47635523 . C CT 22 idl,rn VT=INS;SST=Single;DP=69;NP=6;PC=0.001;Gene=MSH2/NM_000251.2/1;CC=c.212-4dupT;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.14-4dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T,CT,D:64:56:9:11:48,1,9,6:1563,34,286,360:0.00,1.73,22.03,14.51:0.00,0.83,18.79,11.12:0.00,0.91,3.23,3.39:0.00,0.00,0.97,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.95,0.00:60,60,60,60:18.6,45.0,25.1,8.5:0,0,0,5:0,0,0,0:42,40,74,76:96,96,76,73:21,0,41,40:-,NM_000251.2(MSH2) c.212-17_212-16insT:-,NOT_FOUND:-,NOT_FOUND 2 47635695 . G . . NT END=47637232;NT GT ./. 2 47637512 . G . . NT END=47639552;NT GT ./. 2 47639700 . G . . NT END=47641407;NT GT ./. 2 47641558 . G . . NT END=47643434;NT GT ./. 2 47641559 rs11309117 TA T 28 idl,rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MSH2/NM_000251.2/1;CC=c.942+29delA;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.744+29delA;VC=Intron;DM=MSH2/MutS_II;DM=MSH2/MutS_II;DM=MSH2/MutS_II;DM=MSH2/MutS_II;DM=MSH2/MutS_II;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:51:46:1:36:1,38,1,11:34,1033,32,784:1.81,0.00,1.61,27.52:-0.14,0.00,1.72,25.52:1.95,0.00,-0.11,2.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.97:60,60,60,60:34.0,19.2,20.0,36.8:1,1,0,15:0,0,0,0:53,128,50,77:59,16,63,61:0,18,0,25:-,NM_000251.2(MSH2) c.942+3delA:-,NOT_FOUND:-,NOT_FOUND 2 47643191 rs11691516 C G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3267,G/0.6733;PC=0.167;Gene=MSH2/NM_000251.2/1;CC=c.943-244C>G;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.745-244C>G;VC=Intron;DM=MSH2/MutS_II;DM=MSH2/MutS_II;DM=MSH2/MutS_II;DM=MSH2/MutS_II;DM=MSH2/MutS_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,G:6:5:0:0:2,4:48,119:0.00,12.16:0.00,9.06:0.00,3.10:0.00,0.93:0.00,0.99:0.00,0.78:60,60:107.5,89.2:0,0:0,0:73,53:77,97:35,39:-,NM_000251.2(MSH2) c.943-244C>G:-,0.65:-,NOT_FOUND 2 47643569 . G . . NT END=47656880;NT GT ./. 2 47643746 . G GT 10 rn VT=INS;SST=Single;DP=7;NP=1;Gene=MSH2/NM_000251.2/1;CC=c.1076+190_1076+191insT;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.878+190_878+191insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:G,GT,D:6:0:4:1:2,3,1:64,132,33:0.00,9.74,2.80:0.00,0.00,0.00:0.00,9.74,2.80:0.00,0.69,0.00:0.00,0.00,0.00:0.00,0.69,0.00:60,60,60:0.0,9.0,0.0:0,1,0:0,0,0:124,81,106:26,69,45:20,23,0:-,NM_000251.2(MSH2) c.1076+178_1076+179insT:-,NOT_FOUND:-,NOT_FOUND 2 47656801 rs2347794 G A 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=in-clinvar;PAF=G/0.4063,A/0.5937;Gene=MSH2/NM_000251.2/1;CC=c.1077-80G>A;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.879-80G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:22:0:0:15,10:473,308:47.16,0.00:42.40,0.00:4.76,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:32.9,7.6:0,0:0,0:37,42:113,108:14,25:NM_000251.2(MSH2) c.1077-80G>A,-:0.57,-:NOT_FOUND,- 2 47657081 . G . . NT END=47672686;NT GT ./. 2 47657196 . CT C 8 rn VT=DEL;SST=Single;DP=13;NP=7;PC=0.002;Gene=MSH2/NM_000251.2/1;CC=c.1276+132delT;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.1078+132delT;VC=Intron;DM=MSH2/MutS_III;DM=MSH2/MutS_III;DM=MSH2/MutS_III;DM=MSH2/MutS_III;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:CT,C:13:1:0:3:10,3:303,99:0.00,8.28:0.00,-0.11:0.00,8.40:0.00,0.58:0.00,0.49:0.00,0.92:60,60:17.5,9.3:0,0:0,0:127,90:24,60:15,22:-,NM_000251.2(MSH2) c.1276+117delT:-,NOT_FOUND:-,NOT_FOUND 2 47672569 rs1981929 G A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=in-clinvar;PAF=G/0.2053,A/0.7947;PC=0.001;Gene=MSH2/NM_000251.2/1;CC=c.1277-118G>A;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.1079-118G>A;VC=Intron;DM=MSH2/MutS_III;DM=MSH2/MutS_III;DM=MSH2/MutS_III;DM=MSH2/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:9:9:0:0:6,3:193,105:19.67,0.00:19.67,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.5,0.0:0,0:0,0:88,28:62,122:46,1:NM_000251.2(MSH2) c.1277-118G>A,-:0.77,-:NOT_FOUND,- 2 47672797 . G . . NT END=47690169;NT GT ./. 2 47672900 rs17224444 C T 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.988,T/0.01198;Gene=MSH2/NM_000251.2/1;CC=c.1386+104C>T;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.1188+104C>T;VC=Intron;DM=MSH2/MutS_III;DM=MSH2/MutS_III;DM=MSH2/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:13:0:0:0:6,7:184,211:0.00,20.53:0.00,0.00:0.00,20.53:0.00,0.99:0.00,0.00:0.00,0.99:60,60:6.3,39.1:0,0:0,0:93,110:58,40:22,29:-,NM_000251.2(MSH2) c.1386+104C>T:-,0.01:-,NOT_FOUND 2 47690294 . G . . NT END=47693796;NT GT ./. 2 47693948 . G . . NT END=47698103;NT GT ./. 2 47698202 . G . . NT END=47702163;NT GT ./. 2 47702410 . G . . NT END=47703505;NT GT ./. 2 47702451 rs201305711 GT G 15 sb;idl,rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.028;Gene=MSH2/NM_000251.2/1;CC=c.2005+61delT;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.1807+61delT;VC=Intron;DM=MSH2/MutS_III;DM=MSH2/MutS_III;DM=MSH2/MutS_III;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:GT,T,I,G:49:25:6:13:32,4,6,7:839,107,189,386:0.00,7.14,14.40,15.41:0.00,-0.36,5.79,-1.69:0.00,7.50,8.61,17.10:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.99:60,60,60,60:29.1,84.2,41.0,92.3:0,2,0,6:0,0,0,0:110,73,88,84:20,61,62,60:29,15,29,17:-,NM_000251.2(MSH2) c.2005+43delT:-,NOT_FOUND:-,NOT_FOUND 2 47703379 rs2059521 C T 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1906;Gene=MSH2/NM_000251.2/1;CC=c.2006-127C>T;VC=Intron;Gene=MSH2/NM_001258281.1/0;CC=c.1808-127C>T;VC=Intron;DM=MSH2/MutS_III;DM=MSH2/MutS_III;DM=MSH2/MutS_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:541:62.14:62.14:0.00:1.00:1.00:0.00:60:54.4:0:0:37:113:22:NM_000251.2(MSH2) c.2006-127C>T,NM_000251.2(MSH2) c.2006-127C>T:1,1:NOT_FOUND,NOT_FOUND 2 47703711 . G . . NT END=47705410;NT GT ./. 2 47705659 . G . . NT END=47707834;NT GT ./. 2 47708011 . G . . NT END=47709917;NT GT ./. 2 47710368 . G . . NT END=47739441;NT GT ./. 2 47710431 rs56116962 C G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9886,G/0.01138 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:17:1:0:0:11,6:353,212:0.00,19.27:0.00,-0.09:0.00,19.36:0.00,0.95:0.00,0.57:0.00,0.95:60,60:12.6,38.7:0,0:0,0:132,115:19,35:9,12:-,chr2 g.47710430C>G (intergenic):-,0.01:-,NOT_FOUND 2 47739574 . C . . NT END=47748045;NT GT ./. 2 47748292 rs2278139 A G 229 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=A/0.4081,G/0.5919;Gene=KCNK12/NM_022055.1/1;CC=c.1047T>C;ProtCh=p.G349=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:133:87:0:0:61,72:1935,2344:0.00,228.83:0.00,109.94:0.00,118.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,36.7:0,0:0,0:81,65:70,82:39,29:-,NM_022055.1(KCNK12) c.1047T>C (p.(=)):-,0.53:-,NOT_FOUND 2 47748948 . C . . NT END=47797079;NT GT ./. 2 47749020 . T G 6 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;Gene=KCNK12/NM_022055.1/1;CC=c.392-73A>C;VC=Intron;DM=KCNK12/Ion_trans_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:G,T:39:17:0:0:8,31:110,763:6.32,0.00:-1.38,0.00:7.71,0.00:0.97,0.00:0.95,0.00:0.99,0.00:60,60:89.8,22.9:0,0:0,0:43,122:92,13:26,25:NM_022055.1(KCNK12) c.392-73A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 47797471 . G . . NT END=48010372;NT GT ./. 2 47804588 rs11682450 T A 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8347,A/0.1653 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:142:16.11:4.03:12.08:1.00:1.00:1.00:60:48.2:0:0:66:69:23:NM_022055.1(KCNK12) c.1-u7118A>T,NM_022055.1(KCNK12) c.1-u7118A>T:0.15,0.15:NOT_FOUND,NOT_FOUND 2 47863730 rs58972030 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6933,T/0.3067;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=41;NP=64;NP=88;PC=0.080 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:138:15.71:5.92:9.79:1.00:1.00:1.00:60:66.2:0:0:76:43:26:chr2 g.47863729C>T (intergenic),chr2 g.47863729C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 47863732 rs2881829 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7073,C/0.2927;NP=172;PC=0.957 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:138:15.71:6.07:9.64:1.00:1.00:1.00:60:67.5:0:0:78:41:26:chr2 g.47863731T>C (intergenic),chr2 g.47863731T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 48010558 rs1042820 C A 190 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=127;DB;DBA=in-clinvar;PAF=C/0.9309,A/0.06909;Gene=MSH6/NM_000179.2/1;CC=c.186C>A;ProtCh=p.R62=;VC=Silent;Gene=MSH6/NM_001281492.1/0;CC=c.186C>A;ProtCh=p.R62=;VC=Silent;Gene=MSH6/NM_001281493.1/0;CC=c.-551C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:127:85:0:0:67,60:1969,2010:190.46,0.00:77.07,0.00:113.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.0,7.9:0,0:0,0:73,74:73,75:30,28:NM_000179.2(MSH6) c.186C>A (p.(=)),-:0.09,-:0.116645,- 2 48010633 . G . . NT END=48011093;NT GT ./. 2 48010654 rs55927047 C G 145 nt VT=SNV;PN=T;NN=G;SST=Single;DP=89;DB;DBA=in-clinvar;PAF=C/0.9311,G/0.06889;Gene=MSH6/NM_000179.2/1;CC=c.260+22C>G;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.237+45C>G;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-477+22C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:89:37:0:0:40,49:1100,1486:0.00,145.46:0.00,50.84:0.00,94.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.8,68.4:0,0:0,0:103,113:46,36:33,26:-,NM_000179.2(MSH6) c.260+22C>G:-,0.09:-,0.091121 2 48010710 . A G 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;Gene=MSH6/NM_000179.2/1;CC=c.260+78A>G;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.237+101A>G;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-477+78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,C,G:47:14:0:0:40,1,6:1104,11,122:0.00,-0.13,7.47:0.00,0.14,-0.59:0.00,-0.28,8.06:0.00,0.00,0.86:0.00,0.00,0.77:0.00,0.00,0.77:60,60,60:31.7,52.0,129.0:0,0,0:0,0,0:118,40,82:33,111,52:21,0,16:-,NM_000179.2(MSH6) c.260+78A>G:-,NOT_FOUND:-,NOT_FOUND 2 48011021 rs3136233 C G 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.4972,G/0.5028;Gene=MSH6/NM_000179.2/1;CC=c.260+389C>G;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.237+412C>G;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-477+389C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:51:51:0:0:29,22:883,558:0.00,51.03:0.00,51.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.3,102.3:0,0:0,0:46,66:105,84:30,30:-,NM_000179.2(MSH6) c.260+389C>G:-,0.45:-,NOT_FOUND 2 48011058 rs3136235 G A 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.9319,A/0.06809;PC=0.021;Gene=MSH6/NM_000179.2/1;CC=c.260+426G>A;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.237+449G>A;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-477+426G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:65:0:0:28,40:823,1123:75.66,0.00:57.59,0.00:18.07,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:91.4,21.8:0,0:0,0:49,48:85,102:42,27:NM_000179.2(MSH6) c.260+426G>A,-:0.1,-:NOT_FOUND,- 2 48011091 rs3136237 G C 107 nt VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.8848,C/0.1152;Gene=MSH6/NM_000179.2/1;CC=c.260+459G>C;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.237+482G>C;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-477+459G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:100:88:0:0:39,61:1177,1964:107.15,0.00:70.16,0.00:36.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.9,17.0:0,0:0,0:46,45:94,100:31,31:NM_000179.2(MSH6) c.260+459G>C,-:0.16,-:NOT_FOUND,- 2 48011245 . G . . NT END=48011319;NT GT ./. 2 48011378 . G . . NT END=48018065;NT GT ./. 2 48018081 rs1800932 A G 136 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=in-clinvar;PAF=A/0.9133,G/0.08666;PC=0.970;Gene=MSH6/NM_000179.2/1;CC=c.276A>G;ProtCh=p.P92=;VC=Silent;Gene=MSH6/NM_001281492.1/0;CC=c.237+7472A>G;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-461A>G;VC=5UTR;Gene=MSH6/NM_001281494.1/0;CC=c.-627A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:73:61:0:0:28,45:911,1356:0.00,135.86:0.00,90.49:0.00,45.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,38.2:0,0:0,0:41,51:97,86:30,30:-,NM_000179.2(MSH6) c.276A>G (p.(=)):-,0.1:-,0.165231 2 48018263 . G . . NT END=48023032;NT GT ./. 2 48018293 rs397839804 TTG T 15 rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=101;PC=0.514;Gene=MSH6/NM_000179.2/1;CC=c.457+52_457+53delTG;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.238-7436_238-7435delTG;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-280+52_-280+53delTG;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.-446+52_-446+53delTG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,TTG,T:56:19:0:7:1,49,6:36,1509,200:1.95,0.00,14.64:1.10,0.00,5.38:0.85,0.00,9.27:0.00,0.00,0.83:0.00,0.00,0.79:0.00,0.00,0.98:60,60,60:36.0,22.2,33.0:0,0,0:0,0,0:132,110,81:11,33,70:0,26,27:-,NM_000179.2(MSH6) c.457+32_457+33delTG:-,NOT_FOUND:-,NOT_FOUND 2 48018314 rs374618432 T A 86 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=in-clinvar;PAF=T/0.8145,A/0.1855;DB;DBA=NA;PAF=NA;PC=0.049;Gene=MSH6/NM_000179.2/1;CC=c.457+52T>A;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.238-7436T>A;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-280+52T>A;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.-446+52T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:44:11:0:0:26,18:870,596:86.47,0.00:14.52,0.00:71.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,13.8:0,0:0,0:101,106:49,31:19,31:NM_000179.2(MSH6) c.457+52T>A,-:0.21,-:0.313877,- 2 48018479 rs3136283 G T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9343,T/0.06569;PC=0.009;Gene=MSH6/NM_000179.2/1;CC=c.457+217G>T;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.238-7271G>T;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-280+217G>T;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.-446+217G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:G,T:8:0:0:0:4,4:98,124:0.00,11.92:0.00,0.00:0.00,11.92:0.00,0.87:0.00,0.00:0.00,0.87:60,60:67.8,33.8:0,0:0,0:124,119:26,31:15,20:-,NM_000179.2(MSH6) c.457+217G>T:-,0.08:-,NOT_FOUND 2 48022900 rs3136316 A G 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1571,G/0.8429;Gene=MSH6/NM_000179.2/1;CC=c.458-133A>G;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.238-2850A>G;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-279-2850A>G;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.-445-133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:20:0:0:9,11:253,314:0.00,30.68:0.00,30.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.8,46.6:0,0:0,0:89,35:62,115:36,21:-,NM_000179.2(MSH6) c.458-133A>G:-,0.82:-,NOT_FOUND 2 48023115 rs1800935 T C 98 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=in-clinvar;PAF=T/0.8648,C/0.1352;PC=1.000;Gene=MSH6/NM_000179.2/1;CC=c.540T>C;ProtCh=p.D180=;VC=Silent;Gene=MSH6/NM_001281492.1/0;CC=c.238-2635T>C;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.-279-2635T>C;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.-363T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:77:55:0:0:35,42:1045,1324:98.01,0.00:57.93,0.00:40.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,4.4:0,0:0,0:43,55:99,90:31,31:NM_000179.2(MSH6) c.540T>C (p.(=)),-:0.17,-:0.250654,- 2 48023203 . G . . NT END=48025749;NT GT ./. 2 48028295 . G . . NT END=48030558;NT GT ./. 2 48030458 rs2072447 G C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.1775,C/0.8225;Gene=MSH6/NM_000179.2/1;CC=c.3173-101G>C;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.2783-101G>C;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.2267-101G>C;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.2267-101G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:19:0:0:9,11:284,361:26.72,0.00:25.57,0.00:1.16,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:45.6,9.7:0,0:0,0:19,33:132,118:12,26:NM_000179.2(MSH6) c.3173-101G>C,-:0.81,-:NOT_FOUND,- 2 48030825 . G . . NT END=48032048;NT GT ./. 2 48030838 rs2020911 A T 107 nt VT=SNV;PN=T;NN=A;SST=Single;DP=58;DB;DBA=in-clinvar;PAF=A/0.599,T/0.401;Gene=MSH6/NM_000179.2/1;CC=c.3438+14A>T;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.3048+14A>T;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.2532+14A>T;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.2532+14A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:58:23:0:0:24,34:704,1080:0.00,107.14:0.00,30.37:0.00,76.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,35.3:0,0:0,0:103,94:47,47:15,28:-,NM_000179.2(MSH6) c.3438+14A>T:-,0.4:-,0.314624 2 48032167 . G . . NT END=48032756;NT GT ./. 2 48032613 rs7562367 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2304,A/0.7696;PC=0.023;Gene=MSH6/NM_000179.2/1;CC=c.3557-144G>A;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.3167-144G>A;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.2651-144G>A;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.2651-144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,G:11:11:0:0:6,5:177,153:17.26,0.00:17.26,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:31.7,37.6:0,0:0,0:44,20:106,131:15,16:NM_000179.2(MSH6) c.3557-144G>A,-:0.75,-:NOT_FOUND,- 2 48032740 rs267608102 AT A 13 idl,rn VT=DEL;SST=Single;DP=37;DB;DBA=in-clinvar;PAF=NA;NP=59;Gene=MSH6/NM_000179.2/1;CC=c.3557-4delT;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.3167-4delT;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.2651-4delT;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.2651-4delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:AT,I,A:35:31:3:7:27,3,5:827,85,230:0.00,5.68,12.94:0.00,4.66,6.14:0.00,1.01,6.80:0.00,0.00,0.77:0.00,0.00,0.96:0.00,0.00,0.86:60,60,60:15.6,13.0,2.6:0,0,2:0,0,0:43,85,33:101,65,117:32,4,18:-,NM_000179.2(MSH6) c.3557-16delT:-,NOT_FOUND:-,NOT_FOUND 2 48032847 . G . . NT END=48033342;NT GT ./. 2 48032874 rs3136358 ACTAT A 44 nt VT=DEL;SST=Single;DP=32;DB;DBA=in-clinvar;PAF=ACTAT/0.2378,A/0.7622;DB;DBA=NA;PAF=ACTAT/0.2378,A/0.7622;NP=3007;Gene=MSH6/NM_000179.2/1;CC=c.3646+35_3646+38delATCT;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.3256+35_3256+38delATCT;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.2740+35_2740+38delATCT;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.2740+35_2740+38delATCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTAT,A:32:13:0:14:18,14:496,466:0.00,43.77:0.00,7.08:0.00,36.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,8.4:0,0:0,0:123,96:19,54:21,19:-,NM_000179.2(MSH6) c.3646+29_3646+32delCTAT:-,0.74:-,0.708053 2 48032937 rs3136359 T C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=MSH6/NM_000179.2/1;CC=c.3646+91T>C;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.3256+91T>C;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.2740+91T>C;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.2740+91T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:0:0:0:9,7:316,216:31.13,0.00:0.00,0.00:31.13,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.1,9.1:0,0:0,0:89,72:61,77:34,14:NM_000179.2(MSH6) c.3646+91T>C,-:0.8,-:NOT_FOUND,- 2 48033498 . G . . NT END=48033590;NT GT ./. 2 48033551 rs3136367 C G 97 nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=in-clinvar;PAF=C/0.1909,G/0.8091;Gene=MSH6/NM_000179.2/1;CC=c.3802-40C>G;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.3412-40C>G;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.2896-40C>G;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.2896-40C>G;VC=Intron;DM=MSH6/MutS_IV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:61:42:0:0:31,30:1001,1015:0.00,97.45:0.00,62.34:0.00,35.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,37.8:0,0:0,0:67,60:79,90:53,32:-,NM_000179.2(MSH6) c.3802-40C>G:-,0.79:-,0.787219 2 48033791 . G . . NT END=48033917;NT GT ./. 2 48033890 rs67094025 CT C 21 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=in-clinvar;PAF=NA;DB;DBA=NA;PAF=NA;NP=35;Gene=MSH6/NM_000179.2/1;CC=c.4002-10delT;VC=Intron;Gene=MSH6/NM_001281492.1/0;CC=c.3612-10delT;VC=Intron;Gene=MSH6/NM_001281493.1/0;CC=c.3096-10delT;VC=Intron;Gene=MSH6/NM_001281494.1/0;CC=c.3096-10delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:CT,G,I,C:33:24:4:11:20,1,4,8:627,9,129,332:0.00,-0.05,9.97,20.62:0.00,-0.14,9.02,12.62:0.00,0.08,0.95,8.00:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.98:60,60,60,60:15.6,122.0,19.5,32.0:0,0,0,3:0,0,0,0:72,77,16,65:78,60,135,84:53,0,5,41:-,NM_000179.2(MSH6) c.4002-27delT:-,NOT_FOUND:-,NOT_FOUND 2 48034000 . A . . NT END=48035256;NT GT ./. 2 48035567 . C . . NT END=48036296;NT GT ./. 2 48035673 rs2710163 A G 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5725,G/0.4275;Gene=FBXO11/NM_025133.4/1;CC=c.2304-107T>C;VC=Intron;Gene=FBXO11/NM_001190274.1/0;CC=c.2556-107T>C;VC=Intron;DM=FBXO11/zf-UBR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,G:13:0:0:0:6,7:151,196:0.00,19.06:0.00,0.00:0.00,19.06:0.00,0.99:0.00,0.00:0.00,0.99:60,60:19.7,63.9:0,0:0,0:61,125:90,25:24,22:-,NM_025133.4(FBXO11) c.2304-107T>C:-,0.43:-,NOT_FOUND 2 48036406 . C . . NT END=48036738;NT GT ./. 2 48036847 . C . . NT END=48037454;NT GT ./. 2 48037566 . C . . NT END=48040372;NT GT ./. 2 48040517 . C . . NT END=48040929;NT GT ./. 2 48040564 rs564540671 A ATTTT 7 idl,nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.3772,ATT/.,ATTT/.,ATTTT/0.6228,ATTTTT/.,ATTTTTTTTT/.;NP=1;NP=1;NP=1;NP=4;Gene=FBXO11/NM_025133.4/1;CC=c.1832-49_1832-48insAAAA;VC=Intron;Gene=FBXO11/NM_001190274.1/0;CC=c.2084-49_2084-48insAAAA;VC=Intron;DM=FBXO11/Beta_helix;DM=FBXO11/Beta_helix;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,T,ATTTT,D:34:15:10:3:27,1,3,3:828,28,309,92:0.00,1.38,6.94,6.34:0.00,-0.12,-0.36,-0.36:0.00,1.50,7.30,6.70:0.00,0.00,0.36,0.00:0.00,0.00,0.57,0.00:0.00,0.00,0.81,0.00:60,12,60,60:5.5,229.0,129.3,44.7:0,0,7,0:0,0,0,0:116,108,102,105:24,13,43,46:20,0,9,6:-,NM_025133.4(FBXO11) c.1832-49_1832-48insAAAA:-,NOT_FOUND:-,NOT_FOUND 2 48040904 rs77079615 G GA 100 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.08746,GA/0.9125;DB;DBA=NA;PAF=G/0.08746,GA/0.9125;DB;DBA=NA;PAF=G/0.08746,GA/0.9125;DB;DBA=NA;PAF=G/0.08746,GA/0.9125;NP=2745;Gene=FBXO11/NM_025133.4/1;CC=c.1831+25dupT;VC=Intron;Gene=FBXO11/NM_001190274.1/0;CC=c.2083+25dupT;VC=Intron;DM=FBXO11/Beta_helix;DM=FBXO11/Beta_helix;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G,GA:30:25:29:0:2,28:45,926:0.00,99.51:0.00,68.12:0.00,31.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:61.0,8.0:1,1:0,0:69,40:81,108:31,17:NM_025133.4(FBXO11) c.1831+25_1831+26insT,NM_025133.4(FBXO11) c.1831+25_1831+26insT:0.93,0.93:0.962608,0.962608 2 48041007 . C . . NT END=48045917;NT GT ./. 2 48046004 . C . . NT END=48046094;NT GT ./. 2 48046012 rs374445177 TA T 36 idl,rn VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=94;PC=0.001;Gene=FBXO11/NM_025133.4/1;CC=c.1669-10delT;VC=Intron;Gene=FBXO11/NM_001190274.1/0;CC=c.1921-10delT;VC=Intron;DM=FBXO11/Beta_helix;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:66:54:5:16:4,43,5,14:86,1238,157,496:4.78,0.00,11.00,35.90:4.32,0.00,2.84,26.56:0.46,0.00,8.16,9.34:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:73.2,19.6,26.2,7.6:0,0,0,2:0,0,0,0:48,86,89,68:103,57,62,83:40,37,26,39:-,NM_025133.4(FBXO11) c.1669-10delT:-,NOT_FOUND:-,NOT_FOUND 2 48046218 . C . . NT END=48047500;NT GT ./. 2 48047596 . C . . NT END=48049356;NT GT ./. 2 48049443 . C . . NT END=48050281;NT GT ./. 2 48050500 . C . . NT END=48059487;NT GT ./. 2 48059471 rs67864921 AAAAT A 69 nt VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=AAAAT/0.8391,A/0.1609;DB;DBA=NA;PAF=AAAAT/0.8391,A/0.1609;NP=1406;PC=0.001;Gene=FBXO11/NM_025133.4/1;CC=c.1146+13_1146+16delATTT;VC=Intron;Gene=FBXO11/NM_001190274.1/0;CC=c.1398+13_1398+16delATTT;VC=Intron;DM=FBXO11/Beta_helix;DM=FBXO11/Beta_helix;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAAT,A:54:48:0:23:31,23:1009,738:0.00,68.77:0.00,56.77:0.00,12.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,4.5:0,0:0,0:73,58:77,93:46,23:-,NM_025133.4(FBXO11) c.1146+13_1146+16delATTT:-,0.17:-,0.193322 2 48059626 . C . . NT END=48059710;NT GT ./. 2 48059818 . C . . NT END=48059907;NT GT ./. 2 48060020 . C . . NT END=48060102;NT GT ./. 2 48060210 . C . . NT END=48061717;NT GT ./. 2 48061851 . C . . NT END=48061926;NT GT ./. 2 48062011 . C . . NT END=48063010;NT GT ./. 2 48063141 . C . . NT END=48065997;NT GT ./. 2 48066143 . C . . NT END=48066557;NT GT ./. 2 48066232 rs368463059 CT C 39 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=268;Gene=FBXO11/NM_025133.4/1;CC=c.191-91delA;VC=Intron;Gene=FBXO11/NM_001190274.1/0;CC=c.443-91delA;VC=Intron;DM=FBXO11/Beta_helix;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:29:11:3:15:14,2,13:453,98,479:0.00,4.55,39.05:0.00,-0.11,7.51:0.00,4.66,31.54:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:9.4,0.0,17.2:0,1,2:0,0,0:133,30,113:11,121,36:13,6,14:-,NM_025133.4(FBXO11) c.191-91delA:-,NOT_FOUND:-,NOT_FOUND 2 48066640 . C . . NT END=48066780;NT GT ./. 2 48066909 . C . . NT END=48115764;NT GT ./. 2 48115859 . A . . NT END=48132627;NT GT ./. 2 48116126 rs4952896 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1661,A/0.8339;PC=0.873;Gene=FBXO11/NM_001190274.1/0;CC=c.232+16502C>T;VC=Intron;DM=FBXO11/F-box-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,G:5:0:0:0:3,2:97,54:9.67,0.00:0.00,0.00:9.67,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:77.3,4.5:0,0:0,0:57,104:85,47:10,2:NM_025133.4(FBXO11) c.-114-u268C>T,-:0.81,-:NOT_FOUND,- 2 48132860 . T . . NT END=48573353;NT GT ./. 2 48537033 rs371601167 C CGTGTGTGT 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.007;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CGTGTGTGT:4:5:4:0:1,3:35,128:0.00,10.27:0.00,5.33:0.00,4.93:0.00,0.78:0.00,0.78:0.00,0.97:18,60:0.0,2.7:0,1:0,0:91,56:33,69:0,25:-,NM_002158.3(FOXN2) c.-315-u4762_-315-u4761insGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 48573891 . G . . NT END=48586185;NT GT ./. 2 48586019 rs10549580 AATCC A 16 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=AATCC/0.604,A/0.396;NP=645;PC=0.044;Gene=FOXN2/NM_002158.3/1;CC=c.538-166_538-163delATCC;VC=Intron;DM=FOXN2/Forkhead;DM=FOXN2/Forkhead;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:AATCC,A:11:11:0:5:6,5:203,168:0.00,15.89:0.00,15.89:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,35.6:0,0:0,0:48,53:101,97:12,7:-,NM_002158.3(FOXN2) c.538-166_538-163delATCC:-,0.38:-,NOT_FOUND 2 48586034 rs57893565 C G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7141,G/0.2859;Gene=FOXN2/NM_002158.3/1;CC=c.538-152C>G;VC=Intron;DM=FOXN2/Forkhead;DM=FOXN2/Forkhead GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:C,G:12:12:0:0:7,5:239,178:0.00,16.65:0.00,16.65:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:0.0,35.6:0,0:0,0:63,64:87,86:23,7:-,NM_002158.3(FOXN2) c.538-152C>G:-,0.31:-,NOT_FOUND 2 48586287 . G . . NT END=48589781;NT GT ./. 2 48586409 rs375005254 ATTTAGTT A 8 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=ATTTAGTT/0.7893,A/0.2107;DB;DBA=NA;PAF=ATTTAGTT/0.7893,A/0.2107;NP=72;Gene=FOXN2/NM_002158.3/1;CC=c.638+141_638+147delAGTTTTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:ATTTAGTT,A:11:0:0:3:8,3:221,95:0.00,8.14:0.00,0.00:0.00,8.14:0.00,0.60:0.00,0.00:0.00,0.60:60,60:6.2,0.0:0,0:0,0:133,77:17,74:9,12:-,NM_002158.3(FOXN2) c.638+124_638+130delTTTAGTT:-,0.21:-,NOT_FOUND 2 48589847 . G . . NT END=48600430;NT GT ./. 2 48600500 . G . . NT END=48602058;NT GT ./. 2 48600691 rs7587385 T G 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6671,G/0.3329;PC=0.011;Gene=FOXN2/NM_002158.3/1;CC=c.772+192T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:G,T:10:0:0:0:5,5:155,147:14.88,0.00:0.00,0.00:14.88,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:80.4,6.6:0,0:0,0:52,96:98,54:8,23:NM_002158.3(FOXN2) c.772+192T>G,-:0.34,-:NOT_FOUND,- 2 48600692 rs7573316 C T 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6671,T/0.3329;PC=0.027;Gene=FOXN2/NM_002158.3/1;CC=c.772+193C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,T:10:0:0:0:5,5:135,143:0.00,13.67:0.00,0.00:0.00,13.67:0.00,0.95:0.00,0.00:0.00,0.95:60,60:6.6,80.4:0,0:0,0:97,53:53,97:23,8:-,NM_002158.3(FOXN2) c.772+193C>T:-,0.34:-,NOT_FOUND 2 48602252 rs17855177 C T 192 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.7444,T/0.2556;PC=0.982;Gene=FOXN2/NM_002158.3/1;CC=c.966C>T;ProtCh=p.S322=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:146:94:0:0:2,80,1,63:31,2471,9,2045:0.35,0.00,-0.19,191.95:-0.25,0.00,-0.07,99.49:0.60,0.00,-0.12,92.45:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:216.5,8.2,54.0,35.6:0,0,0,0:0,0,0,0:83,91,27,85:63,51,123,62:31,32,0,35:-,NM_002158.3(FOXN2) c.966C>T (p.(=)):-,0.29:-,0.267031 2 48602583 . A . . NT END=48668092;NT GT ./. 2 48667951 . CGCG C 8 rn VT=DEL;SST=Single;DP=21;NP=6;PC=1.000;Gene=PPP1R21/NM_001135629.2/1;CC=c.-121_-119delGGC;VC=5UTR;Gene=PPP1R21/NM_001193475.1/0;CC=c.-121_-119delGGC;VC=5UTR;Gene=PPP1R21/NM_152994.4/0;CC=c.-121_-119delGGC;VC=5UTR;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:CGCG,C:21:21:0:3:18,3:625,99:0.00,7.59:0.00,7.69:0.00,-0.10:0.00,0.49:0.00,0.49:0.00,0.42:60,60:4.7,0.0:0,0:0,0:66,108:84,39:37,8:-,NM_001135629.2(PPP1R21) c.-139GGC[6]:-,NOT_FOUND:-,NOT_FOUND 2 48668150 . G . . NT END=48678146;NT GT ./. 2 48678216 . G . . NT END=48681694;NT GT ./. 2 48681881 . G . . NT END=48685264;NT GT ./. 2 48685367 . G . . NT END=48686892;NT GT ./. 2 48686695 rs7606562 T A 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.6024,A/0.3976;Gene=PPP1R21/NM_001135629.2/1;CC=c.376-198T>A;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.376-198T>A;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.376-198T>A;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:19:19:0:0:12,7:387,214:39.00,0.00:39.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.9,2.4:0,0:0,0:31,49:119,102:15,25:NM_001135629.2(PPP1R21) c.376-198T>A,-:0.35,-:NOT_FOUND,- 2 48687058 . G . . NT END=48687233;NT GT ./. 2 48687293 . G . . NT END=48688276;NT GT ./. 2 48688372 . G . . NT END=48692075;NT GT ./. 2 48688463 rs36022363 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9385,C/0.0615;PC=0.001;Gene=PPP1R21/NM_001135629.2/1;CC=c.694+92A>C;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.694+92A>C;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.694+92A>C;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,C:7:0:0:0:4,3:128,77:0.00,7.03:0.00,0.00:0.00,7.03:0.00,0.69:0.00,0.00:0.00,0.69:60,60:5.8,40.7:0,0:0,0:129,97:21,54:16,3:-,NM_001135629.2(PPP1R21) c.694+92A>C:-,0.07:-,NOT_FOUND 2 48692129 . G . . NT END=48692631;NT GT ./. 2 48692782 . G . . NT END=48698225;NT GT ./. 2 48695968 rs62137056 A ATGTGTGTG 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7768,ATGTG/.,ATGTGTG/.,ATGTGTGTG/0.2232,ATGTGTGTGTG/.;DB;DBA=NA;PAF=A/0.7768,ATGTG/.,ATGTGTG/.,ATGTGTGTG/0.2232;DB;DBA=NA;PAF=NA;NP=21;NP=32;NP=4;NP=5;NP=6;PC=0.005;Gene=PPP1R21/NM_001135629.2/1;CC=c.898-2229_898-2228insGTGTGTGT;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.898-2229_898-2228insGTGTGTGT;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.898-2229_898-2228insGTGTGTGT;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:ATGTGTGTG:4:3:5:0:4:162:14.32:7.31:7.01:0.96:0.99:1.00:70:7.8:1:0:55:83:28:NM_001135629.2(PPP1R21) c.898-2258_898-2257insTGTGTGTG,NM_001135629.2(PPP1R21) c.898-2258_898-2257insTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 48698328 . G . . NT END=48698417;NT GT ./. 2 48698507 . G . . NT END=48701821;NT GT ./. 2 48701959 . G . . NT END=48707062;NT GT ./. 2 48707156 . G . . NT END=48713769;NT GT ./. 2 48713777 rs33994624 C T 179 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.9101,T/0.08986;PC=0.994;Gene=PPP1R21/NM_001135629.2/1;CC=c.1326C>T;ProtCh=p.S442=;VC=Silent;Gene=PPP1R21/NM_001193475.1/0;CC=c.1326C>T;ProtCh=p.S442=;VC=Silent;Gene=PPP1R21/NM_152994.4/0;CC=c.1326C>T;ProtCh=p.S442=;VC=Silent;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:43:0:0:47:1567:179.07:138.32:40.76:1.00:1.00:1.00:60:42.5:0:0:69:70:35:NM_001135629.2(PPP1R21) c.1326C>T (p.(=)),NM_001135629.2(PPP1R21) c.1326C>T (p.(=)):0.07,0.07:0.092265,0.092265 2 48713898 . G . . NT END=48718156;NT GT ./. 2 48717807 rs4430989 G A 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1136,A/0.8864;PC=0.001;Gene=PPP1R21/NM_001135629.2/1;CC=c.1447-350G>A;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.1447-350G>A;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.1447-350G>A;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:114:13.30:13.30:0.00:1.00:1.00:0.00:60:40.2:0:0:7:143:4:NM_001135629.2(PPP1R21) c.1447-350G>A,NM_001135629.2(PPP1R21) c.1447-350G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 2 48718310 . G . . NT END=48722817;NT GT ./. 2 48722755 rs4443044 T C 90 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.4736,C/0.5264;Gene=PPP1R21/NM_001135629.2/1;CC=c.1600-63T>C;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.1600-2877T>C;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.1600-63T>C;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:23:0:0:24:786:90.02:76.60:13.42:1.00:1.00:1.00:60:47.9:0:0:49:102:39:NM_001135629.2(PPP1R21) c.1600-63T>C,NM_001135629.2(PPP1R21) c.1600-63T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 48722911 . G . . NT END=48725631;NT GT ./. 2 48725415 . GT G 9 rn VT=DEL;SST=Single;DP=5;Gene=PPP1R21/NM_001135629.2/1;CC=c.1693-206delT;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.1600-206delT;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.1693-206delT;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:GT,G:5:5:0:3:2,3:68,95:0.00,9.47:0.00,9.47:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:20.0,0.0:0,0:0,0:36,86:115,65:25,41:-,NM_001135629.2(PPP1R21) c.1693-216delT:-,NOT_FOUND:-,NOT_FOUND 2 48725610 rs3811519 C T 223 nt VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.5226,T/0.4774;Gene=PPP1R21/NM_001135629.2/1;CC=c.1693-22C>T;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.1600-22C>T;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.1693-22C>T;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:T:61:57:0:0:61:1942:223.19:190.94:32.25:1.00:1.00:1.00:60:38.6:0:0:52:98:29:NM_001135629.2(PPP1R21) c.1693-22C>T,NM_001135629.2(PPP1R21) c.1693-22C>T:0.44,0.44:0.515921,0.515921 2 48725875 . G . . NT END=48732702;NT GT ./. 2 48732736 . G . . NT END=48734407;NT GT ./. 2 48732944 rs4293602 A G 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3009,G/0.6991;PC=0.217;Gene=PPP1R21/NM_001135629.2/1;CC=c.1968+209A>G;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.1843-1464A>G;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.1936-1464A>G;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:192:22.06:0.00:22.06:1.00:0.00:1.00:60:32.0:0:0:109:41:25:NM_001135629.2(PPP1R21) c.1968+209A>G,NM_001135629.2(PPP1R21) c.1968+209A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 48734525 . G . . NT END=48737153;NT GT ./. 2 48734576 rs6716341 G A 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=PPP1R21/NM_001135629.2/1;CC=c.2085+52G>A;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.1959+52G>A;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.2052+52G>A;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding;DM=PPP1R21/TTKRSYEDQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:4:0:0:12:394:45.12:11.53:33.59:1.00:1.00:1.00:60:35.7:0:0:111:39:23:NM_001135629.2(PPP1R21) c.2085+52G>A,NM_001135629.2(PPP1R21) c.2085+52G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 48737253 . G . . NT END=48738478;NT GT ./. 2 48738608 . G . . NT END=48741853;NT GT ./. 2 48738687 rs4528813 G C 208 nt VT=SNV;PN=G;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.2446,C/0.7554;Gene=PPP1R21/NM_001135629.2/1;CC=c.2313+80G>C;VC=Intron;Gene=PPP1R21/NM_001193475.1/0;CC=c.2187+80G>C;VC=Intron;Gene=PPP1R21/NM_152994.4/0;CC=c.2280+80G>C;VC=Intron;Gene=PPP1R21/NR_024188.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A,C,T:57:22:0:0:1,55,1:11,1828,14:0.21,208.16,0.36:0.21,62.26,0.00:0.00,145.90,0.36:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.0,40.9,58.0:0,0,0:0,0,0:126,111,133:25,39,17:0,24,0:NM_001135629.2(PPP1R21) c.2313+80G>C,NM_001135629.2(PPP1R21) c.2313+80G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 48741884 . T . . NT END=48807772;NT GT ./. 2 48807510 rs4465808 G C 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1733,C/0.8267;PC=0.005;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.-47-216G>C;VC=Intron;Gene=STON1/NM_001198595.1/1;CC=c.-47-216G>C;VC=Intron;Gene=STON1/NM_006873.3/0;CC=c.-47-216G>C;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.-47-216G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:583:66.85:66.85:0.00:1.00:1.00:0.00:60:42.7:0:0:44:107:22:NM_001198593.1(STON1-GTF2A1L) c.-47-216G>C,NM_001198593.1(STON1-GTF2A1L) c.-47-216G>C:0.83,0.83:NOT_FOUND,NOT_FOUND 2 48807593 rs397871647 GT G 106 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=GT/0.6625,G/0.3375;DB;DBA=NA;PAF=GT/0.6625,G/0.3375;NP=211;PC=0.002;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.-47-123delT;VC=Intron;Gene=STON1/NM_001198595.1/1;CC=c.-47-123delT;VC=Intron;Gene=STON1/NM_006873.3/0;CC=c.-47-123delT;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.-47-123delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:GT,G:31:32:0:31:1,30:11,956:0.00,105.62:0.00,105.62:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:190.0,23.6:0,1:0,0:15,66:129,84:0,44:NM_001198593.1(STON1-GTF2A1L) c.-47-132delT,NM_001198593.1(STON1-GTF2A1L) c.-47-132delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 48807796 rs17039250 A C 678 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=183;DB;DBA=NA;PAF=A/0.6661,C/0.3339;PC=0.940;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.24A>C;ProtCh=p.K8N;VC=Missense;Gene=STON1/NM_001198595.1/1;CC=c.24A>C;ProtCh=p.K8N;VC=Missense;Gene=STON1/NM_006873.3/0;CC=c.24A>C;ProtCh=p.K8N;VC=Missense;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.24A>C;ProtCh=p.K8N;VC=Missense;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.24A>C;ProtCh=p.K8N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:183:139:0:0:2,180,1:21,5966,11:0.00,678.28,0.06:0.00,423.27,0.07:0.00,255.00,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:135.0,39.0,11.0:0,0,0:0,0,0:83,62,75:55,82,76:33,30,0:NM_001198593.1(STON1-GTF2A1L) c.24A>C (p.Lys8Asn),NM_001198593.1(STON1-GTF2A1L) c.24A>C (p.Lys8Asn):0.33,0.33:0.31201,0.31201 2 48807976 rs3828340 T C 844 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=224;DB;DBA=NA;PAF=T/0.6605,C/0.3395;PC=0.957;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.204T>C;ProtCh=p.D68=;VC=Silent;Gene=STON1/NM_001198595.1/1;CC=c.204T>C;ProtCh=p.D68=;VC=Silent;Gene=STON1/NM_006873.3/0;CC=c.204T>C;ProtCh=p.D68=;VC=Silent;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.204T>C;ProtCh=p.D68=;VC=Silent;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.204T>C;ProtCh=p.D68=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:224:123:0:0:224:7373:843.82:386.73:457.09:1.00:1.00:1.00:60:41.9:0:0:76:71:41:NM_001198593.1(STON1-GTF2A1L) c.204T>C (p.(=)),NM_001198593.1(STON1-GTF2A1L) c.204T>C (p.(=)):0.34,0.34:0.318699,0.318699 2 48808125 rs72824125 G T 296 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=202;DB;DBA=NA;PAF=G/0.9922,T/0.007788;NP=25;PC=0.051;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.353G>T;ProtCh=p.G118V;VC=Missense;Gene=STON1/NM_001198595.1/1;CC=c.353G>T;ProtCh=p.G118V;VC=Missense;Gene=STON1/NM_006873.3/0;CC=c.353G>T;ProtCh=p.G118V;VC=Missense;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.353G>T;ProtCh=p.G118V;VC=Missense;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.353G>T;ProtCh=p.G118V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:202:137:0:0:102,100:3256,3094:0.00,296.35:0.00,175.78:0.00,120.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.3,63.8:0,0:0,0:67,71:81,75:37,35:-,NM_001198593.1(STON1-GTF2A1L) c.353G>T (p.Gly118Val):-,0.0032:-,0.002614 2 48808152 rs940389 G C 738 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=197;DB;DBA=NA;PAF=G/0.6444,C/0.3556;PC=0.015;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.380G>C;ProtCh=p.R127T;VC=Missense;Gene=STON1/NM_001198595.1/1;CC=c.380G>C;ProtCh=p.R127T;VC=Missense;Gene=STON1/NM_006873.3/0;CC=c.380G>C;ProtCh=p.R127T;VC=Missense;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.380G>C;ProtCh=p.R127T;VC=Missense;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.380G>C;ProtCh=p.R127T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:197:131:0:0:197:6446:738.21:408.44:329.77:1.00:1.00:1.00:60:51.6:0:0:64:86:35:NM_001198593.1(STON1-GTF2A1L) c.380G>C (p.Arg127Thr),NM_001198593.1(STON1-GTF2A1L) c.380G>C (p.Arg127Thr):0.35,0.35:0.326926,0.326926 2 48808594 rs3749142 C T 853 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=223;DB;DBA=NA;PAF=C/0.6048,T/0.3952;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.822C>T;ProtCh=p.S274=;VC=Silent;Gene=STON1/NM_001198595.1/1;CC=c.822C>T;ProtCh=p.S274=;VC=Silent;Gene=STON1/NM_006873.3/0;CC=c.822C>T;ProtCh=p.S274=;VC=Silent;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.822C>T;ProtCh=p.S274=;VC=Silent;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.822C>T;ProtCh=p.S274=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:223:134:0:0:1,222:12,7491:0.00,852.84:0.00,417.40:0.00,435.44:0.00,1.00:0.00,1.00:0.00,1.00:53,60:51.0,38.5:0,0:0,0:43,78:28,69:0,33:NM_001198593.1(STON1-GTF2A1L) c.822C>T (p.(=)),NM_001198593.1(STON1-GTF2A1L) c.822C>T (p.(=)):0.41,0.41:0.441873,0.441873 2 48808882 rs3749144 T A 878 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=230;DB;DBA=NA;PAF=T/0.6639,A/0.3361;PC=0.232;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.1110T>A;ProtCh=p.P370=;VC=Silent;Gene=STON1/NM_001198595.1/1;CC=c.1110T>A;ProtCh=p.P370=;VC=Silent;Gene=STON1/NM_006873.3/0;CC=c.1110T>A;ProtCh=p.P370=;VC=Silent;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.1110T>A;ProtCh=p.P370=;VC=Silent;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.1110T>A;ProtCh=p.P370=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:230:154:0:0:230:7684:877.89:484.90:392.99:1.00:1.00:1.00:60:67.5:0:0:61:85:36:NM_001198593.1(STON1-GTF2A1L) c.1110T>A (p.(=)),NM_001198593.1(STON1-GTF2A1L) c.1110T>A (p.(=)):0.34,0.34:0.31201,0.31201 2 48808898 rs3749145 C T 835 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=235;DB;DBA=NA;PAF=C/0.6659,T/0.3341;PC=1.000;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.1126C>T;ProtCh=p.L376=;VC=Silent;Gene=STON1/NM_001198595.1/1;CC=c.1126C>T;ProtCh=p.L376=;VC=Silent;Gene=STON1/NM_006873.3/0;CC=c.1126C>T;ProtCh=p.L376=;VC=Silent;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.1126C>T;ProtCh=p.L376=;VC=Silent;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.1126C>T;ProtCh=p.L376=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:235:167:0:0:2,233:63,7290:0.00,834.83:0.00,490.46:0.00,344.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,68.4:0,0:0,0:5,58:145,89:0,33:NM_001198593.1(STON1-GTF2A1L) c.1126C>T (p.(=)),NM_001198593.1(STON1-GTF2A1L) c.1126C>T (p.(=)):0.34,0.34:0.312317,0.312317 2 48809593 rs3792234 G T 1096 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=293;DB;DBA=NA;PAF=G/0.6036,T/0.3964;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.1821G>T;ProtCh=p.Q607H;VC=Missense;Gene=STON1/NM_001198595.1/1;CC=c.1821G>T;ProtCh=p.Q607H;VC=Missense;Gene=STON1/NM_006873.3/0;CC=c.1821G>T;ProtCh=p.Q607H;VC=Missense;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.1821G>T;ProtCh=p.Q607H;VC=Missense;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.1821G>T;ProtCh=p.Q607H;VC=Missense;DM=STON1-GTF2A1L/Adap_comp_sub;DM=STON1/Adap_comp_sub GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:293:177:0:0:293:9568:1096.20:520.22:575.99:1.00:1.00:1.00:60:41.7:0:0:73:76:42:NM_001198593.1(STON1-GTF2A1L) c.1821G>T (p.Gln607His),NM_001198593.1(STON1-GTF2A1L) c.1821G>T (p.Gln607His):0.41,0.41:0.44764,0.44764 2 48809703 . G . . NT END=48818791;NT GT ./. 2 48809756 rs3792235 T C 523 nt VT=SNV;PN=T;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=NA;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.1930+54T>C;VC=Intron;Gene=STON1/NM_001198595.1/1;CC=c.1930+54T>C;VC=Intron;Gene=STON1/NM_006873.3/0;CC=c.1930+54T>C;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.1930+54T>C;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.1930+54T>C;VC=Intron;DM=STON1-GTF2A1L/Adap_comp_sub;DM=STON1/Adap_comp_sub GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:141:39:0:0:140,1:4587,17:523.00,0.00:97.32,0.00:425.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,124.0:0,0:0,0:96,88:52,62:30,0:NM_001198593.1(STON1-GTF2A1L) c.1930+54T>C,NM_001198593.1(STON1-GTF2A1L) c.1930+54T>C:0.36,0.36:NOT_FOUND,NOT_FOUND 2 48809873 rs3792236 T C 139 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6585,C/0.3415;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.1930+171T>C;VC=Intron;Gene=STON1/NM_001198595.1/1;CC=c.1930+171T>C;VC=Intron;Gene=STON1/NM_006873.3/0;CC=c.1930+171T>C;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.1930+171T>C;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.1930+171T>C;VC=Intron;DM=STON1-GTF2A1L/Adap_comp_sub;DM=STON1/Adap_comp_sub GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:46:1:0:0:46:1181:139.46:3.88:135.58:1.00:1.00:1.00:60:42.0:0:0:106:43:24:NM_001198593.1(STON1-GTF2A1L) c.1930+171T>C,NM_001198593.1(STON1-GTF2A1L) c.1930+171T>C:0.34,0.34:NOT_FOUND,NOT_FOUND 2 48810067 rs13011288 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4848,T/0.5152;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.1930+365C>T;VC=Intron;Gene=STON1/NM_001198595.1/1;CC=c.1930+365C>T;VC=Intron;Gene=STON1/NM_006873.3/0;CC=c.1930+365C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.1930+365C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.1930+365C>T;VC=Intron;DM=STON1-GTF2A1L/Adap_comp_sub;DM=STON1/Adap_comp_sub GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:76.5:0:0:90:55:34:NM_001198593.1(STON1-GTF2A1L) c.1930+365C>T,NM_001198593.1(STON1-GTF2A1L) c.1930+365C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 2 48817775 rs6146756 A AACACACACAC 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5489,AACACACACACAC/.,AACACACACACACACAC/.,AACACACACACACACACAC/.,AACACACACACACACACACAC/0.4511;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.1931-993_1931-992insACACACACAC;VC=Intron;Gene=STON1/NM_001198595.1/1;CC=c.1931-993_1931-992insACACACACAC;VC=Intron;Gene=STON1/NM_006873.3/0;CC=c.1931-993_1931-992insACACACACAC;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.1931-993_1931-992insACACACACAC;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.1931-993_1931-992insACACACACAC;VC=Intron;DM=STON1-GTF2A1L/Adap_comp_sub;DM=STON1/Adap_comp_sub;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AACACACACAC:3:5:4:0:1,2:32,125:0.00,6.64:0.00,5.01:0.00,1.63:0.00,0.46:0.00,0.46:0.00,0.70:60,60:0.0,22.5:0,2:0,0:112,66:25,84:0,7:-,NM_001198593.1(STON1-GTF2A1L) c.1931-1017_1931-1016insACACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 48818995 . G . . NT END=48822366;NT GT ./. 2 48819197 rs2293276 A G 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.6184,G/0.3816;PC=0.001;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.2133+203A>G;VC=Intron;Gene=STON1/NM_001198595.1/1;CC=c.2133+203A>G;VC=Intron;Gene=STON1/NM_006873.3/0;CC=c.2133+203A>G;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.2133+203A>G;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.2133+203A>G;VC=Intron;DM=STON1/Adap_comp_sub GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:0:0:0:21:647:74.62:0.00:74.62:1.00:0.00:1.00:60:52.1:0:0:108:31:36:NM_001198593.1(STON1-GTF2A1L) c.2133+203A>G,NM_001198593.1(STON1-GTF2A1L) c.2133+203A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 2 48822442 . G . . NT END=48845013;NT GT ./. 2 48845035 . G . . NT END=48847989;NT GT ./. 2 48845091 . G A 131 nt VT=SNV;PN=G;NN=C;SST=Single;DP=75;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.2134-2899G>A;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.2134-2899G>A;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.2134-2899G>A;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.21+57G>A;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.21+57G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:36:0:0:43,32:1330,1058:131.22,0.00:42.73,0.00:88.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,6.8:0,0:0,0:119,87:31,64:19,44:NM_001198593.1(STON1-GTF2A1L) c.2134-2899G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 48847868 rs41281477 T A 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8437,A/0.1563;PC=0.004;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.2134-122T>A;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.2134-122T>A;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.2134-122T>A;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.22-438T>A;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.22-122T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:25:0:0:12,13:366,370:34.80,0.00:34.80,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:56.3,13.5:0,0:0,0:83,55:67,93:18,21:NM_001198593.1(STON1-GTF2A1L) c.2134-122T>A,-:0.14,-:NOT_FOUND,- 2 48847918 rs72187525 GAATA G 50 rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=26;PC=0.001;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.2134-33_2134-30delTAAA;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.2134-33_2134-30delTAAA;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.2134-33_2134-30delTAAA;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.22-349_22-346delTAAA;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.22-33_22-30delTAAA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GAATA,G:41:39:0:18:1,23,17:33,742,569:1.92,0.00,49.76:1.95,0.00,40.75:-0.04,0.00,9.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,70:267.0,16.7,19.5:0,0,1:0,0,0:44,84,32:107,66,119:0,45,13:-,NM_001198593.1(STON1-GTF2A1L) c.2134-71_2134-68delAATA:-,NOT_FOUND:-,NOT_FOUND 2 48848092 . G . . NT END=48848305;NT GT ./. 2 48848295 rs13035544 C T 167 nt VT=SNV;PN=T;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.844,T/0.156;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.2236-11C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.2236-11C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.2236-11C>T;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.22-11C>T;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.124-11C>T;VC=Intron;DM=GTF2A1L/TFIIA;DM=STON1-GTF2A1L/TFIIA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:79:0:3:55,55:1804,1740:0.00,167.08:0.00,89.19:0.00,77.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,42.4:0,0:0,0:51,64:100,85:33,38:-,NM_001198593.1(STON1-GTF2A1L) c.2236-11C>T:-,0.13:-,0.107028 2 48848430 . G . . NT END=48869540;NT GT ./. 2 48869597 . G . . NT END=48872171;NT GT ./. 2 48872257 . G . . NT END=48873591;NT GT ./. 2 48873257 rs12987384 C T 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8512,T/0.1488;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.2501-335C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.2501-335C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.2360-335C>T;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.287-335C>T;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.389-335C>T;VC=Intron;DM=GTF2A1L/TFIIA;DM=STON1-GTF2A1L/TFIIA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:4:0:0:1,3:35,62:0.00,6.61:0.00,6.61:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,65.7:0,0:0,0:32,22:118,128:0,13:-,NM_001198593.1(STON1-GTF2A1L) c.2501-335C>T:-,0.13:-,NOT_FOUND 2 48873512 . AT A 14 idl,rn VT=DEL;SST=Single;DP=45;NP=6;PC=0.001;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.2501-65delT;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.2501-65delT;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.2360-65delT;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.287-65delT;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.389-65delT;VC=Intron;DM=GTF2A1L/TFIIA;DM=STON1-GTF2A1L/TFIIA;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:AT,I,A:44:44:6:6:33,5,6:979,180,186:0.00,10.74,14.17:0.00,10.84,14.30:0.00,-0.10,-0.12:0.00,0.00,0.86:0.00,0.00,0.99:0.00,0.00,0.40:60,60,60:34.7,108.2,23.0:0,1,0:0,0,0:52,40,47:81,101,104:43,30,39:-,NM_001198593.1(STON1-GTF2A1L) c.2501-79delT:-,NOT_FOUND:-,NOT_FOUND 2 48874182 . G . . NT END=48896860;NT GT ./. 2 48897122 . G . . NT END=48898729;NT GT ./. 2 48897272 rs11899239 A C 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.6849,C/0.3151;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3351+151A>C;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.3351+151A>C;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.3210+151A>C;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.1137+151A>C;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.1239+151A>C;VC=Intron;DM=GTF2A1L/TFIIA;DM=STON1-GTF2A1L/TFIIA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:0:0:0:7,16:218,497:0.00,51.15:0.00,0.00:0.00,51.15:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,46.4:0,0:0,0:85,86:64,63:7,35:-,NM_001198593.1(STON1-GTF2A1L) c.3351+151A>C:-,0.27:-,NOT_FOUND 2 48898539 rs7562038 C T 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8013,T/0.1987;PC=0.382;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3352-191C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.3352-191C>T;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.3211-191C>T;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.1138-191C>T;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.1240-191C>T;VC=Intron;DM=GTF2A1L/TFIIA;DM=STON1-GTF2A1L/TFIIA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:12:12:0:0:6,6:206,181:0.00,17.35:0.00,17.35:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:3.7,64.8:0,0:0,0:20,81:131,70:7,38:-,NM_001198593.1(STON1-GTF2A1L) c.3352-191C>T:-,0.17:-,NOT_FOUND 2 48898798 rs3920390 T A 142 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.01498,A/0.985;PC=0.091;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3420T>A;ProtCh=p.V1140=;VC=Silent;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.3420T>A;ProtCh=p.V1140=;VC=Silent;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.3279T>A;ProtCh=p.V1093=;VC=Silent;Gene=GTF2A1L/NM_001193487.2/0;CC=c.1206T>A;ProtCh=p.V402=;VC=Silent;Gene=GTF2A1L/NM_006872.4/1;CC=c.1308T>A;ProtCh=p.V436=;VC=Silent;DM=GTF2A1L/TFIIA;DM=STON1-GTF2A1L/TFIIA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:87:51:0:0:47,40:1453,1277:141.63,0.00:54.91,0.00:86.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,5.3:0,0:0,0:84,90:58,56:28,17:NM_001198593.1(STON1-GTF2A1L) c.3420T>A (p.(=)),-:0.99,-:0.978625,- 2 48898820 . G . . NT END=48906473;NT GT ./. 2 48906360 rs1464728 A G 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.1032,G/0.8968;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3441+7541A>G;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.3442-114A>G;VC=Intron;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.3301-114A>G;VC=Intron;Gene=GTF2A1L/NM_001193487.2/0;CC=c.1228-114A>G;VC=Intron;Gene=GTF2A1L/NM_006872.4/1;CC=c.1330-114A>G;VC=Intron;DM=GTF2A1L/TFIIA;DM=STON1-GTF2A1L/TFIIA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:37:0:0:23,14:754,462:0.00,42.21:0.00,42.42:0.00,-0.21:0.00,1.00:0.00,1.00:0.00,0.68:60,60:7.3,36.0:0,0:0,0:39,72:112,78:26,36:-,NM_001198593.1(STON1-GTF2A1L) c.3441+7541A>G:-,0.9:-,NOT_FOUND 2 48906625 rs1965508 T C 144 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.01478,C/0.9852;PC=0.418;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3441+7806T>C;VC=Intron;Gene=STON1-GTF2A1L/NM_172311.2/0;CC=c.*44T>C;VC=3UTR;Gene=STON1-GTF2A1L/NM_001198594.1/0;CC=c.*44T>C;VC=3UTR;Gene=GTF2A1L/NM_001193487.2/0;CC=c.*44T>C;VC=3UTR;Gene=GTF2A1L/NM_006872.4/1;CC=c.*44T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:118:61:0:0:1,48,69:8,1551,2224:-0.19,143.57,0.00:-0.09,59.36,0.00:-0.10,84.21,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:174.0,40.5,5.0:0,0,0:0,0,0:58,78,101:93,70,47:0,28,37:NM_006872.3(GTF2A1L) c.*44T>C,-:0.99,-:0.978471,- 2 48906749 . T . . NT END=48914835;NT GT ./. 2 48915989 . C . . NT END=48921362;NT GT ./. 2 48921444 . C . . NT END=48925753;NT GT ./. 2 48925746 rs6755901 C T 150 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.2626,T/0.7374;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3441+26927C>T;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.866+8G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:40:0:0:43:1301:150.48:116.43:34.04:1.00:1.00:1.00:60:40.9:0:0:61:83:38:NM_000233.3(LHCGR) c.866+8G>A,NM_000233.3(LHCGR) c.866+8G>A:0.71,0.71:0.852376,0.852376 2 48925940 . C . . NT END=48936086;NT GT ./. 2 48925986 rs70946824 AT A 66 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=AT/0.0619,A/0.9381;NP=1064;PC=0.947;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3441+27179delT;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.681-48delA;VC=Intron;DM=LHCGR/LRR_5;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:34:15:0:23:12,22:330,684:0.00,66.12:0.00,17.99:0.00,48.13:0.00,1.00:0.00,1.00:0.00,1.00:60,70:24.9,24.5:0,1:0,0:137,100:12,49:9,23:-,NM_000233.3(LHCGR) c.681-48delA:-,NOT_FOUND:-,NOT_FOUND 2 48926182 rs2037614 G C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.01577,C/0.9842;PC=0.005;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3441+27363G>C;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.681-243C>G;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:208:23.66:0.00:23.66:1.00:0.00:1.00:60:43.0:0:0:127:24:3:NM_000233.3(LHCGR) c.681-243C>G,NM_000233.3(LHCGR) c.681-243C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 48935849 rs6733079 T C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1077;NP=80;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3441+37030T>C;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.680+238A>G;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:152:17.58:17.58:0.00:1.00:1.00:0.00:60:104.2:0:0:78:72:43:NM_000233.3(LHCGR) c.680+238A>G,NM_000233.3(LHCGR) c.680+238A>G:1,1:NOT_FOUND,NOT_FOUND 2 48935930 rs34594563 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.8522,C/0.1478;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3441+37111T>C;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.680+157A>G;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:6,9:202,290:18.68,0.00:18.68,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:39.0,24.4:0,0:0,0:41,40:110,111:27,22:NM_000233.3(LHCGR) c.680+157A>G,-:0.13,-:NOT_FOUND,- 2 48936162 . C . . NT END=48941124;NT GT ./. 2 48941194 . C . . NT END=48950594;NT GT ./. 2 48950673 . C . . NT END=48950760;NT GT ./. 2 48950836 . C . . NT END=48952814;NT GT ./. 2 48952624 rs6545062 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.007588,A/0.9924;NP=1989;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3442-50795G>A;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.383+191C>T;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:190:21.86:21.86:0.00:1.00:1.00:0.00:60:67.3:0:0:38:112:25:NM_000233.3(LHCGR) c.383+191C>T,NM_000233.3(LHCGR) c.383+191C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 48952701 rs6545063 C G 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.007588,G/0.9924;NP=3455;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3442-50718C>G;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.383+114G>C;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:464:53.08:53.08:0.00:1.00:1.00:0.00:60:46.7:0:0:65:85:20:NM_000233.3(LHCGR) c.383+114G>C,NM_000233.3(LHCGR) c.383+114G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 48952890 . C . . NT END=48956291;NT GT ./. 2 48956367 . C . . NT END=48958365;NT GT ./. 2 48956431 rs11892719 T A 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3948,A/0.6052;PC=0.005;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3442-46988T>A;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.234-65A>T;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,T:17:8:0:0:11,6:358,179:36.25,0.00:11.40,0.00:24.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.5,3.3:0,0:0,0:114,136:37,14:14,10:NM_000233.3(LHCGR) c.234-65A>T,-:0.62,-:0.58085,- 2 48956475 rs11887058 C T 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5507,T/0.4493;PC=0.002;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3442-46944C>T;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.234-109G>A;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:9:0:0:0:2,7:35,235:0.00,24.81:0.00,0.00:0.00,24.81:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.5,94.4:0,0:0,0:54,119:97,30:39,22:-,NM_000233.3(LHCGR) c.234-109G>A:-,0.46:-,NOT_FOUND 2 48956512 rs11897846 A G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5479,G/0.4521;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3442-46907A>G;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.234-146T>C;VC=Intron;DM=LHCGR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,G:9:0:0:0:5,4:160,140:0.00,13.22:0.00,0.00:0.00,13.22:0.00,0.85:0.00,0.00:0.00,0.85:60,60:8.0,98.5:0,0:0,0:31,111:118,40:19,24:-,NM_000233.3(LHCGR) c.234-146T>C:-,0.46:-,NOT_FOUND 2 48958438 . C . . NT END=48982649;NT GT ./. 2 48958647 rs7561945 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7416,T/0.2584;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3442-44772C>T;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.162-210G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T:5:0:0:0:3,2:53,70:0.00,6.51:0.00,0.00:0.00,6.51:0.00,0.46:0.00,0.00:0.00,0.46:60,60:45.7,85.0:0,0:0,0:114,107:37,43:23,4:-,NM_000233.3(LHCGR) c.162-210G>A:-,0.23:-,NOT_FOUND 2 48982811 . G . . NT END=49003418;NT GT ./. 2 48982868 rs10176989 C A 136 nt VT=SNV;PN=G;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=C/0.7434,A/0.2566;PC=0.006;Gene=STON1-GTF2A1L/NM_001198593.1/1;CC=c.3442-20551C>A;VC=Intron;Gene=LHCGR/NM_000233.3/1;CC=c.-58G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:104:60:0:0:47,57:1448,1867:136.07,0.00:40.71,0.00:95.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,11.5:0,0:0,0:91,108:48,42:29,26:NM_000233.3(LHCGR) c.-58G>T,-:0.24,-:NOT_FOUND,- 2 49003455 . C . . NT END=49189871;NT GT ./. 2 49089673 rs55959189 A AACAC 17 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=22;NP=9;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,AACAC:6:6:7:0:1,5:34,229:0.00,17.44:0.00,12.55:0.00,4.88:0.00,0.97:0.00,1.00:0.00,0.99:60,60:0.0,16.0:0,2:0,0:47,56:104,94:0,24:-,chr2 g.49089673_49089674insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 49109308 . G GCA 17 rn VT=INS;SST=Single;DP=8;NP=2;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:G,GCA:7:7:6:0:2,5:65,195:0.00,16.61:0.00,9.93:0.00,6.68:0.00,0.97:0.00,1.00:0.00,0.98:60,60:0.0,47.2:0,1:0,0:45,51:106,99:21,14:-,chr2 g.49109308_49109309insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 49142407 rs1922480 T G 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.7574,G/0.2426;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:22:0:0:12,13:392,415:37.41,0.00:29.56,0.00:7.85,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:37.3,4.8:0,0:0,0:64,34:86,114:30,27:chr2 g.49142406T>G (intergenic),-:0.22,-:NOT_FOUND,- 2 49189921 rs6166 C T 128 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=in-clinvar;PAF=C/0.4073,T/0.5927;PC=0.036;Gene=FSHR/NM_000145.3/1;CC=c.2039G>A;ProtCh=p.S680N;VC=Missense;Gene=FSHR/NM_181446.2/0;CC=c.1961G>A;ProtCh=p.S654N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:65:0:0:33,41:1084,1305:0.00,127.99:0.00,101.27:0.00,26.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,38.5:0,0:0,0:60,35:91,116:30,26:-,NM_000145.3(FSHR) c.2039G>A (p.Ser680Asn):-,0.6:-,0.558204 2 49191041 rs6165 C T 136 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=in-clinvar;PAF=C/0.5078,G/.,T/0.4922;Gene=FSHR/NM_000145.3/1;CC=c.919G>A;ProtCh=p.A307T;VC=Missense;Gene=FSHR/NM_181446.2/0;CC=c.841G>A;ProtCh=p.A281T;VC=Missense;DM=FSHR/GnHR_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:39:0:0:24,44:760,1344:0.00,136.17:0.00,46.38:0.00,89.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,41.0:0,0:0,0:94,71:55,79:40,39:-,NM_000145.3(FSHR) c.919G>A (p.Ala307Thr):-,0.51:-,0.454636 2 49191106 . C . . NT END=49195836;NT GT ./. 2 49196023 . C . . NT END=49210050;NT GT ./. 2 49200420 rs35292210 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3347,C/0.6653;PC=0.003;Gene=FSHR/NM_000145.3/1;CC=c.669-4398T>G;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.591-4398T>G;VC=Intron;DM=FSHR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C:4:1:0:0:2,2:67,71:0.00,6.85:0.00,1.84:0.00,5.01:0.00,0.51:0.00,0.67:0.00,0.51:60,60:20.5,82.0:0,0:0,0:73,94:78,47:29,9:-,NM_000145.3(FSHR) c.669-4398T>G:-,0.63:-,NOT_FOUND 2 49210126 . C . . NT END=49210236;NT GT ./. 2 49210306 . C . . NT END=49216115;NT GT ./. 2 49214976 rs72108367 AAC A 9 sb;idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=221;PC=0.007;Gene=FSHR/NM_000145.3/1;CC=c.524+1138_524+1139delGT;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.446+2727_446+2728delGT;VC=Intron;DM=FSHR/LRR_5;DM=FSHR/LRR_5;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:5:0:6:3:177:9.43:0.05:9.38:0.73:0.96:0.96:70:18.7:3:0:43:65:16:NM_000145.3(FSHR) c.524+1138_524+1139delGT,NM_000145.3(FSHR) c.524+1138_524+1139delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 49215977 rs2072488 G A 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2857,A/0.7143;PC=0.004;Gene=FSHR/NM_000145.3/1;CC=c.524+139C>T;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.446+1728C>T;VC=Intron;DM=FSHR/LRR_5;DM=FSHR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:363:41.55:41.55:0.00:1.00:1.00:0.00:60:35.5:0:0:36:115:30:NM_000145.3(FSHR) c.524+139C>T,NM_000145.3(FSHR) c.524+139C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 2 49216194 . C . . NT END=49217704;NT GT ./. 2 49216284 rs2072487 C T 58 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.2889,T/0.7111;PC=0.010;Gene=FSHR/NM_000145.3/1;CC=c.447-91G>A;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.446+1421G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:2:0:0:17:500:58.04:3.78:54.26:1.00:1.00:1.00:60:39.4:0:0:112:38:27:NM_000145.3(FSHR) c.447-91G>A,NM_000145.3(FSHR) c.447-91G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 49217777 . C . . NT END=49224317;NT GT ./. 2 49217916 rs2072486 T G 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6166,G/0.3834;PC=0.003;Gene=FSHR/NM_000145.3/1;CC=c.375-140A>C;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.375-140A>C;VC=Intron;DM=FSHR/LRR_5;DM=FSHR/LRR_5;DM=FSHR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:5:0:0:0:4,1:117,33:12.51,0.00:0.00,0.00:12.51,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:38.2,0.0:0,0:0,0:105,116:44,35:34,0:NM_000145.3(FSHR) c.375-140A>C,-:0.38,-:NOT_FOUND,- 2 49224430 rs1922464 G C 183 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.4659,C/0.5341;PC=0.025;Gene=FSHR/NM_000145.3/1;CC=c.375-6654C>G;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.375-6654C>G;VC=Intron;DM=FSHR/LRR_5;DM=FSHR/LRR_5;DM=FSHR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C:49:34:0:0:49:1595:182.81:94.24:88.57:1.00:1.00:1.00:60:37.1:0:0:84:66:39:NM_000145.3(FSHR) c.375-6654C>G,NM_000145.3(FSHR) c.375-6654C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 2 49224453 . G . . NT END=49244627;NT GT ./. 2 49224580 rs1922463 G T 124 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.502,T/0.498;PC=0.674;Gene=FSHR/NM_000145.3/1;CC=c.375-6804C>A;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.375-6804C>A;VC=Intron;DM=FSHR/LRR_5;DM=FSHR/LRR_5;DM=FSHR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:17:0:0:35:1077:124.33:48.30:76.03:1.00:1.00:1.00:60:37.4:0:0:95:56:26:NM_000145.3(FSHR) c.375-6804C>A,NM_000145.3(FSHR) c.375-6804C>A:0.51,0.51:NOT_FOUND,NOT_FOUND 2 49224804 rs1922462 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4203,A/0.5797;Gene=FSHR/NM_000145.3/1;CC=c.375-7028C>T;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.375-7028C>T;VC=Intron;DM=FSHR/LRR_5;DM=FSHR/LRR_5;DM=FSHR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:160:18.38:0.00:18.38:1.00:0.00:1.00:60:32.0:0:0:132:19:15:NM_000145.3(FSHR) c.375-7028C>T,NM_000145.3(FSHR) c.375-7028C>T:0.58,0.58:NOT_FOUND,NOT_FOUND 2 49244559 rs2091787 A G 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.392,G/0.608;PC=0.001;Gene=FSHR/NM_000145.3/1;CC=c.374+69T>C;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.374+69T>C;VC=Intron;DM=FSHR/LRR_5;DM=FSHR/LRR_5;DM=FSHR/LRR_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:10:10:0:0:3,7:98,221:0.00,22.77:0.00,17.45:0.00,5.32:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.0,37.9:0,0:0,0:67,54:84,96:0,43:-,NM_000145.3(FSHR) c.374+69T>C:-,0.62:-,NOT_FOUND 2 49244703 . C . . NT END=49247224;NT GT ./. 2 49247300 . C . . NT END=49295357;NT GT ./. 2 49295430 . C . . NT END=49381404;NT GT ./. 2 49295672 rs1504167 C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7614,T/0.2386;Gene=FSHR/NM_000145.3/1;CC=c.153-243G>A;VC=Intron;Gene=FSHR/NM_181446.2/0;CC=c.153-243G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T:4:0:0:0:1,3:10,78:0.00,8.29:0.00,0.00:0.00,8.29:0.00,0.85:0.00,0.00:0.00,0.85:60,60:28.0,50.0:0,0:0,0:111,117:40,33:0,15:-,NM_000145.3(FSHR) c.153-243G>A:-,0.25:-,NOT_FOUND 2 49381557 . A . . NT END=50149081;NT GT ./. 2 49381585 rs1394205 C T 90 nt VT=SNV;PN=T;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.655,T/0.345;PC=0.003;Gene=FSHR/NM_000145.3/1;CC=c.-29G>A;VC=5UTR;Gene=FSHR/NM_181446.2/0;CC=c.-29G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:49:20:0:0:1,19,29:9,625,907:-0.02,0.00,90.48:-0.04,0.00,24.33:0.02,0.00,66.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:78.0,2.5,39.0:0,0,0:0,0,0:65,93,95:86,26,56:0,34,29:-,NM_000145.3(FSHR) c.-29G>A:-,0.36:-,0.259111 2 49381696 rs67177405 CTTT C 12 idl,nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=CTTT/0.6436,C/0.3564;NP=3;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:CTTT,I,C:12:0:1:9:6,1,5:175,33,225:0.00,2.42,11.87:0.00,0.00,0.00:0.00,2.42,11.87:0.00,0.00,0.89:0.00,0.00,0.00:0.00,0.00,0.89:60,60,60:5.0,0.0,23.8:0,0,3:0,0,0:107,129,113:42,22,37:15,0,16:-,NM_000145.3(FSHR) c.-110-u33_-110-u31delAAA:-,NOT_FOUND:-,NOT_FOUND 2 49499823 rs139955144 GTGGTGT G 12 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GTGGTGT/0.767,G/0.233;NP=124;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GTGGTGT,G:5:2:0:4:1,4:34,115:0.00,12.32:0.00,4.12:0.00,8.20:0.00,0.96:0.00,0.97:0.00,1.00:60,70:0.0,12.5:0,0:0,0:126,75:25,76:0,27:-,chr2 g.49499824_49499829delTGGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 49634902 rs72835144 G GTGTGTGTGTGTGTGTGTA 14 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8438,A/0.1562;NP=4;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GTGTGTGTGTGTGTGTGTA:5:4:5:0:1,4:34,163:0.00,13.73:0.00,6.85:0.00,6.87:0.00,0.93:0.00,0.99:0.00,0.99:59,70:69.0,41.8:0,1:0,0:106,74:17,76:0,14:-,chr2 g.49634902_49634903insTGTGTGTGTGTGTGTGTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 49634904 rs4971612 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=153;NP=17;NP=56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:0:5:176:19.98:10.14:9.84:1.00:1.00:1.00:60:47.2:0:0:94:56:14:chr2 g.49634903A>G (intergenic),chr2 g.49634903A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 49831284 rs70946873 A AACAC 10 sb,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=31;NP=48;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AACAC:4:4:3:0:1,3:34,96:0.00,10.05:0.00,8.53:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:12.0,22.3:0,0:0,0:106,29:30,121:0,12:-,chr2 g.49831284_49831285insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 50105886 rs1865491 G A 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2907;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:13:0:0:20:648:74.34:46.76:27.58:1.00:1.00:1.00:60:36.1:0:0:95:55:31:chr2 g.50105885G>A (intergenic),chr2 g.50105885G>A (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 50149390 . C . . NT END=50170841;NT GT ./. 2 50149510 rs17039448 A G 104 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7676,G/0.2324;Gene=NRXN1/NM_138735.2/0;CC=c.1022-121T>C;VC=Intron;Gene=NRXN1/NM_001135659.1/1;CC=c.4337-121T>C;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.4127-121T>C;VC=Intron;DM=NRXN1/Syndecan;DM=NRXN1/Syndecan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:0:0:0:27:909:103.78:0.00:103.78:1.00:0.00:1.00:60:42.4:0:0:115:36:26:NM_001135659.1(NRXN1) c.4337-121T>C,NM_001135659.1(NRXN1) c.4337-121T>C:0.26,0.26:NOT_FOUND,NOT_FOUND 2 50170729 rs1345562 G C 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.7554,C/0.2446;Gene=NRXN1/NM_138735.2/0;CC=c.1021+113C>G;VC=Intron;Gene=NRXN1/NM_001135659.1/1;CC=c.4336+113C>G;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.4126+113C>G;VC=Intron;DM=NRXN1/Syndecan;DM=NRXN1/Syndecan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:370:43.60:43.60:0.00:1.00:1.00:0.00:60:40.8:0:0:84:65:37:NM_001135659.1(NRXN1) c.4336+113C>G,NM_001135659.1(NRXN1) c.4336+113C>G:0.25,0.25:NOT_FOUND,NOT_FOUND 2 50170930 . C . . NT END=50280408;NT GT ./. 2 50280283 rs1363050 T C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2616,C/0.7384;Gene=NRXN1/NM_138735.2/0;CC=c.933+126A>G;VC=Intron;Gene=NRXN1/NM_001135659.1/1;CC=c.4248+126A>G;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.4038+126A>G;VC=Intron;DM=NRXN1/Syndecan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:10,13:285,395:26.42,0.00:26.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:59.5,10.7:0,0:0,0:64,49:86,102:32,17:NM_001135659.1(NRXN1) c.4248+126A>G,-:0.73,-:NOT_FOUND,- 2 50280338 rs1363049 G A 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4127,A/0.5873;Gene=NRXN1/NM_138735.2/0;CC=c.933+71C>T;VC=Intron;Gene=NRXN1/NM_001135659.1/1;CC=c.4248+71C>T;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.4038+71C>T;VC=Intron;DM=NRXN1/Syndecan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:35:0:0:15,22:443,640:40.59,0.00:36.50,0.00:4.09,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:45.7,10.5:0,0:0,0:54,47:97,104:33,42:NM_001135659.1(NRXN1) c.4248+71C>T,-:0.6,-:NOT_FOUND,- 2 50280729 . C . . NT END=50282092;NT GT ./. 2 50282183 . C . . NT END=50318460;NT GT ./. 2 50318633 . C . . NT END=50463926;NT GT ./. 2 50464109 . C . . NT END=50573828;NT GT ./. 2 50574836 rs116199888 A T 209 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=164;DB;DBA=NA;PAF=A/0.9752,T/0.02476;PC=0.115;Gene=NRXN1/NM_138735.2/0;CC=c.-749T>A;VC=5UTR;Gene=NRXN1/NM_001135659.1/1;CC=c.3485-110728T>A;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3365-110728T>A;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:164:59:0:0:90,1,73:2982,9,2225:0.00,-0.19,208.56:0.00,-0.06,63.46:0.00,-0.12,145.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.5,51.0,38.3:0,0,0:0,0,0:87,119,92:57,32,57:34,0,29:-,NM_001135659.1(NRXN1) c.3485-110728T>A:-,0.02:-,NOT_FOUND 2 50574895 . a . . NT END=50692579;NT GT ./. 2 50681802 rs34990763 TCACA T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=6;PC=0.014;Gene=NRXN1/NM_001135659.1/1;CC=c.3484+10774_3484+10777delTGTG;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3364+10774_3364+10777delTGTG;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TCACA,T:4:5:0:4:1,3:34,133:0.00,10.37:0.00,7.01:0.00,3.36:0.00,0.78:0.00,0.78:0.00,0.94:60,60:0.0,11.3:0,1:0,0:90,19:37,82:0,3:-,NM_001135659.1(NRXN1) c.3484+10774_3484+10777delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 50692358 rs1879318 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1843,T/0.8157;Gene=NRXN1/NM_001135659.1/1;CC=c.3484+222G>A;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3364+222G>A;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:229:27.05:27.05:0.00:1.00:1.00:0.00:60:70.8:0:0:46:105:10:NM_001135659.1(NRXN1) c.3484+222G>A,NM_001135659.1(NRXN1) c.3484+222G>A:0.81,0.81:NOT_FOUND,NOT_FOUND 2 50692459 rs12713101 T A 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7594,A/0.2406;Gene=NRXN1/NM_001135659.1/1;CC=c.3484+121A>T;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3364+121A>T;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:30:0:0:30:936:107.86:107.86:0.00:1.00:1.00:0.00:60:45.7:0:0:51:99:32:NM_001135659.1(NRXN1) c.3484+121A>T,NM_001135659.1(NRXN1) c.3484+121A>T:0.25,0.25:NOT_FOUND,NOT_FOUND 2 50692700 . C . . NT END=50699435;NT GT ./. 2 50692819 rs10168838 T G 136 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.1006,G/0.8994;PC=0.109;Gene=NRXN1/NM_001135659.1/1;CC=c.3365-120A>C;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3245-120A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:4:0:0:37:1180:135.58:7.77:127.81:1.00:1.00:1.00:60:38.4:0:0:116:35:24:NM_001135659.1(NRXN1) c.3365-120A>C,NM_001135659.1(NRXN1) c.3365-120A>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 50699305 rs2075234 T A 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.473,A/0.527;PC=0.001;Gene=NRXN1/NM_001135659.1/1;CC=c.3364+131A>T;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3244+131A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:22:0:0:10,12:337,364:31.90,0.00:31.90,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.2,9.1:0,0:0,0:44,51:105,98:37,31:NM_001135659.1(NRXN1) c.3364+131A>T,-:0.53,-:NOT_FOUND,- 2 50699610 . C . . NT END=50723042;NT GT ./. 2 50699758 rs2075233 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4756,T/0.5244;Gene=NRXN1/NM_001135659.1/1;CC=c.3191-149G>A;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3071-149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,T:10:1:0:0:2,8:62,232:0.00,24.76:0.00,3.58:0.00,21.18:0.00,1.00:0.00,0.87:0.00,1.00:60,60:6.5,57.4:0,0:0,0:50,109:99,42:47,20:-,NM_001135659.1(NRXN1) c.3191-149G>A:-,0.53:-,NOT_FOUND 2 50699890 rs6704933 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4694,C/0.5306;Gene=NRXN1/NM_001135659.1/1;CC=c.3191-281A>G;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.3071-281A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:5:2:0:0:4,1:126,33:13.42,0.00:5.27,0.00:8.15,0.00:0.96,0.00:0.97,0.00:1.00,0.00:60,60:72.5,0.0:0,0:0,0:118,135:32,14:16,0:NM_001135659.1(NRXN1) c.3191-281A>G,-:0.53,-:NOT_FOUND,- 2 50723234 . C . . NT END=50724470;NT GT ./. 2 50724853 . C . . NT END=50733632;NT GT ./. 2 50733756 . C . . NT END=50755762;NT GT ./. 2 50733860 rs7584062 A G 104 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=3128;PC=0.002;Gene=NRXN1/NM_001135659.1/1;CC=c.2495-105T>C;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.2375-105T>C;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C,G:30:13:0:0:1,29:5,910:0.07,104.37:0.00,31.42:0.07,72.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.0,41.3:0,0:0,0:32,115:119,34:0,14:NM_001135659.1(NRXN1) c.2495-105T>C,NM_001135659.1(NRXN1) c.2495-105T>C:1,1:NOT_FOUND,NOT_FOUND 2 50733958 rs7571753 T C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7099,C/0.2901;PC=0.023;Gene=NRXN1/NM_001135659.1/1;CC=c.2495-203A>G;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.2375-203A>G;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:C,T:8:0:0:0:6,2:206,63:21.51,0.00:0.00,0.00:21.51,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:60.0,24.0:0,0:0,0:105,96:45,55:38,7:NM_001135659.1(NRXN1) c.2495-203A>G,-:0.27,-:NOT_FOUND,- 2 50742738 rs369879881 GGTGT G 6 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GGTGT/0.6975,G/0.3025;NP=35;Gene=NRXN1/NM_001135659.1/1;CC=c.2495-8987_2495-8984delACAC;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.2375-8987_2375-8984delACAC;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:GGTGT,I,G:5:3:1:3:2,1,2:43,21,101:0.00,1.65,6.36:0.00,-0.04,-0.09:0.00,1.69,6.44:0.00,0.00,0.42:0.00,0.00,0.73:0.00,0.00,0.42:60,60,60:32.0,98.0,0.0:0,0,1:0,0,0:53,62,66:39,89,61:39,0,0:-,NM_001135659.1(NRXN1) c.2495-8987_2495-8984delACAC:-,NOT_FOUND:-,NOT_FOUND 2 50755790 . C . . NT END=50758364;NT GT ./. 2 50758309 rs5831131 C CA 56 nt VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.1382,CA/0.8618;DB;DBA=NA;PAF=C/0.1382,CA/0.8618;NP=2601;PC=1.000;Gene=NRXN1/NM_001135659.1/1;CC=c.2467+55dupT;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.2347+55dupT;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:40:39:19:0:21,19:695,591:0.00,56.15:0.00,49.11:0.00,7.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,4.4:0,0:0,0:47,35:103,115:24,22:-,NM_001135659.1(NRXN1) c.2467+55_2467+56insT:-,0.83:-,NOT_FOUND 2 50758569 . C . . NT END=50765390;NT GT ./. 2 50758657 rs2066948 T C 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.1468,C/0.8532;PC=0.010;Gene=NRXN1/NM_001135659.1/1;CC=c.2264-89A>G;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.2144-89A>G;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:A,C:25:4:0:0:1,24:10,785:0.31,89.47:0.00,9.65:0.31,79.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:78.0,44.7:0,0:0,0:26,112:116,38:0,10:NM_001135659.1(NRXN1) c.2264-89A>G,NM_001135659.1(NRXN1) c.2264-89A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 50765775 . C . . NT END=50779724;NT GT ./. 2 50766007 rs6545179 T A 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2316,A/0.7684;PC=0.001;Gene=NRXN1/NM_001135659.1/1;CC=c.1880-233A>T;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.1760-233A>T;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:145:16.88:0.00:16.88:1.00:0.00:1.00:60:63.6:0:0:112:37:26:NM_001135659.1(NRXN1) c.1880-233A>T,NM_001135659.1(NRXN1) c.1880-233A>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 50779606 . T C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;PC=0.005;Gene=NRXN1/NM_001135659.1/1;CC=c.1879+119A>G;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.1759+119A>G;VC=Intron;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:C,T:16:16:0:0:6,10:186,309:16.86,0.00:16.86,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:36.7,3.6:0,0:0,0:102,33:48,116:15,28:NM_001135659.1(NRXN1) c.1879+119A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 50780164 . C . . NT END=50847159;NT GT ./. 2 50847322 . C . . NT END=50848342;NT GT ./. 2 50848388 . C . . NT END=50850451;NT GT ./. 2 50850754 . C . . NT END=51149006;NT GT ./. 2 50986964 rs72209781 CTGTGTGTGTGTG C 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=26;Gene=NRXN1/NM_001135659.1/1;CC=c.923-128733_923-128722delCACACACACACA;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.824-128733_824-128722delCACACACACACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CTGTGTGTGTGTG,C:3:5:0:4:1,2:10,133:0.00,6.65:0.00,1.53:0.00,5.12:0.00,0.46:0.00,0.46:0.00,0.80:39,60:0.0,6.0:0,2:0,0:107,33:41,106:0,14:-,NM_001135659.1(NRXN1) c.932-136223_932-136212delCACACACACACA:-,NOT_FOUND:-,NOT_FOUND 2 51112958 rs57614861 A AACACACACAC 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=55;Gene=NRXN1/NM_001135659.1/1;CC=c.922+36834_922+36835insGTGTGTGTGT;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.823+36834_823+36835insGTGTGTGTGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,AACACACACAC:6:5:3:0:3,3:98,94:0.00,9.02:0.00,7.74:0.00,1.29:0.00,0.73:0.00,0.96:0.00,0.89:60,60:4.0,7.0:0,0:0,0:98,57:33,94:8,11:-,NM_001135659.1(NRXN1) c.931+36048_931+36049insGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 51113044 rs35650250 T A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6174,A/0.3826;PC=0.161;Gene=NRXN1/NM_001135659.1/1;CC=c.922+36749A>T;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.823+36749A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,T:6:1:0:0:5,1:157,34:16.91,0.00:-0.39,0.00:17.30,0.00:0.99,0.00:0.89,0.00:0.99,0.00:60,60:42.2,0.0:0,0:0,0:64,40:87,111:52,0:NM_001135659.1(NRXN1) c.931+35963A>T,-:0.43,-:NOT_FOUND,- 2 51149019 . C . . NT END=51149795;NT GT ./. 2 51149826 . C . . NT END=51153075;NT GT ./. 2 51153094 . C . . NT END=51253508;NT GT ./. 2 51153279 rs75071398 T C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.9934,C/0.006589;PC=0.001;Gene=NRXN1/NM_001135659.1/1;CC=c.872-186A>G;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.773-186A>G;VC=Intron;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:10:0:0:0:3,7:103,220:9.08,0.00:0.00,0.00:9.08,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:59.7,24.1:0,0:0,0:68,102:83,47:3,21:NM_001135659.1(NRXN1) c.872-186A>G,-:0.01,-:NOT_FOUND,- 2 51253608 . C . . NT END=51254639;NT GT ./. 2 51254478 rs13023341 G A 79 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.8295,A/0.1705;PC=0.018;Gene=NRXN1/NM_001135659.1/1;CC=c.772+162C>T;VC=Intron;Gene=NRXN1/NM_004801.4/0;CC=c.772+162C>T;VC=Intron;DM=NRXN1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:24:0:0:24:680:79.33:79.33:0.00:1.00:1.00:0.00:60:48.9:0:0:51:99:30:NM_001135659.1(NRXN1) c.772+162C>T,NM_001135659.1(NRXN1) c.772+162C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 2 51255412 . G . . NT END=53897639;NT GT ./. 2 51266445 rs13020270 C T 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8219,T/0.1781;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:3:0:0:1,3:34,102:0.00,10.65:0.00,5.03:0.00,5.63:0.00,0.85:0.00,0.99:0.00,0.95:60,60:33.0,44.7:1,0:0,0:28,86:123,59:0,2:-,NM_001135659.1(NRXN1) c.-1477-u6771G>A:-,NOT_FOUND:-,NOT_FOUND 2 51266454 rs59814352 TCTCA T 6 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=130;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TCTCA,T:4:4:0:3:2,2:71,102:0.00,6.41:0.00,-0.54:0.00,6.96:0.00,0.46:0.00,0.87:0.00,0.80:60,60:49.5,46.5:0,1:0,0:61,95:80,50:24,2:-,NM_001135659.1(NRXN1) c.-1477-u6784_-1477-u6781delTGAG:-,NOT_FOUND:-,NOT_FOUND 2 51855043 rs71406606 A ATG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=62;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,ATG:6:6:3:0:3,3:94,99:0.00,9.53:0.00,4.61:0.00,4.91:0.00,0.73:0.00,0.73:0.00,0.96:60,60:3.7,12.0:0,0:0,0:40,76:110,75:31,22:-,chr2 g.51855043_51855044insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 52032467 rs66592913 A G 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4673,G/0.5327;NP=44;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:4:4:0:1:2,2:63,68:0.00,6.55:0.00,5.01:0.00,1.54:0.00,0.51:0.00,0.51:0.00,0.79:12,60:106.0,76.0:0,0:0,0:13,74:95,46:5,4:-,chr2 g.52032466A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 52191522 . G GAC 10 rn VT=INS;SST=Single;DP=5;NP=2;NP=6;PC=0.001;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:G,GAC:5:5:3:0:2,3:56,101:0.00,10.07:0.00,10.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:38.5,0.0:0,0:0,0:64,48:87,102:64,13:-,chr2 g.52191522_52191523insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 52279933 rs79297585 T TTGTGTGTGTG 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6328,TTG/0.3672,TTGTG/.,TTGTGTGTG/.;DB;DBA=NA;PAF=T/0.6328,TTG/0.3672,TTGTGTG/.,TTGTGTGTGTGTG/.;DB;DBA=NA;PAF=NA;NP=2;NP=34;NP=77;PC=0.001;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TTGTGTGTGTG:3:3:3:0:1,2:33,97:0.00,6.45:0.00,1.44:0.00,5.01:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,49.5:0,1:0,0:125,33:26,117:0,17:-,chr2 g.52279933_52279934insTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 52456992 rs373140930 AACAC A 8 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=44;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:AACAC,A:5:7:0:6:2,3:34,171:0.00,7.95:0.00,2.93:0.00,5.03:0.00,0.67:0.00,0.95:0.00,0.90:60,60:11.0,67.7:0,3:0,0:129,52:20,81:20,17:-,chr2 g.52456993_52456996delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 52798793 rs941054 G C 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3169,C/0.6831;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:5:4:0:0:3,2:81,68:8.04,0.00:4.49,0.00:3.56,0.00:0.78,0.00:0.97,0.00:0.87,0.00:60,60:58.3,0.0:0,0:0,0:27,18:124,101:18,10:chr2 g.52798792G>C (intergenic),-:0.66,-:NOT_FOUND,- 2 53246746 . T TTGGG 8 nt VT=INS;SST=Single;DP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TTGGG:4:5:4:0:1,3:32,112:0.00,8.36:0.00,8.36:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,24.7:0,1:0,0:94,67:2,72:0,22:-,chr2 g.53246746_53246747insTGGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 53847570 rs201673165 T C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7065,C/0.2935;NP=97;PC=0.056 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:173:19.68:9.84:9.84:1.00:1.00:1.00:60:68.4:0:0:76:65:18:chr2 g.53847569T>C (intergenic),chr2 g.53847569T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 53847572 rs200073380 T C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7817,C/0.2183;NP=71;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:179:20.29:10.14:10.14:1.00:1.00:1.00:60:67.0:0:0:78:63:18:chr2 g.53847571T>C (intergenic),chr2 g.53847571T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 53897429 . AT A 10 rn VT=DEL;SST=Single;DP=6;PC=0.065;Gene=ASB3/NM_001201965.1/0;CC=c.*210delA;VC=3UTR;Gene=ASB3/NM_016115.4/1;CC=c.*210delA;VC=3UTR;Gene=ASB3/NM_145863.2/0;CC=c.*210delA;VC=3UTR;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:AT,I,A:5:6:1:4:1,1,3:34,33,127:0.00,2.92,9.73:0.00,2.92,9.73:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:169.0,100.0,100.3:0,0,1:0,0,0:48,41,12:94,110,134:0,0,5:-,NM_001164165.1(GPR75-ASB3) c.*185A[25]:-,NOT_FOUND:-,NOT_FOUND 2 53897828 . C . . NT END=53921020;NT GT ./. 2 53921152 . C . . NT END=53927407;NT GT ./. 2 53927672 . C . . NT END=53941520;NT GT ./. 2 53941719 . C . . NT END=53943702;NT GT ./. 2 53943881 . C . . NT END=53955848;NT GT ./. 2 53955471 rs62137573 C T 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.878,T/0.122;Gene=ASB3/NM_001201965.1/0;CC=c.385+378G>A;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.604+378G>A;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.385+378G>A;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.718+378G>A;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:4:4:0:0:2,2:65,68:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,137.0:0,0:0,0:5,72:145,79:4,29:-,NM_001164165.1(GPR75-ASB3) c.718+378G>A:-,0.11:-,NOT_FOUND 2 53955478 rs10178643 G A 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4649,A/0.5351;PC=0.044;Gene=ASB3/NM_001201965.1/0;CC=c.385+371C>T;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.604+371C>T;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.385+371C>T;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.718+371C>T;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:4:0:0:2,2:67,68:6.45,0.00:6.45,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:137.0,0.0:0,0:0,0:79,12:72,138:29,4:NM_001164165.1(GPR75-ASB3) c.718+371C>T,-:0.48,-:NOT_FOUND,- 2 53955489 rs10201938 A C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.481,C/0.519;Gene=ASB3/NM_001201965.1/0;CC=c.385+360T>G;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.604+360T>G;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.385+360T>G;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.718+360T>G;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:5:5:0:0:2,3:66,104:0.00,10.37:0.00,10.37:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,114.3:0,0:0,0:23,61:127,90:4,52:-,NM_001164165.1(GPR75-ASB3) c.718+360T>G:-,0.47:-,NOT_FOUND 2 53955513 rs17039525 A C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6731,C/0.3269;PC=0.105;Gene=ASB3/NM_001201965.1/0;CC=c.385+336T>G;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.604+336T>G;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.385+336T>G;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.718+336T>G;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:5:5:0:0:2,3:66,104:0.00,10.37:0.00,10.37:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,114.3:0,0:0,0:47,85:103,66:4,52:-,NM_001164165.1(GPR75-ASB3) c.718+336T>G:-,0.27:-,NOT_FOUND 2 53955850 rs17521008 C T 130 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.8283,T/0.1717;Gene=ASB3/NM_001201965.1/0;CC=c.384G>A;ProtCh=p.S128=;VC=Silent;Gene=ASB3/NM_016115.4/1;CC=c.603G>A;ProtCh=p.S201=;VC=Silent;Gene=ASB3/NM_145863.2/0;CC=c.384G>A;ProtCh=p.S128=;VC=Silent;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.717G>A;ProtCh=p.S239=;VC=Silent;DM=GPR75-ASB3/Ank_2;DM=ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:72:0:0:44,41:1322,1364:0.00,130.46:0.00,86.51:0.00,43.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,43.1:0,0:0,0:75,55:70,86:35,32:-,NM_001164165.1(GPR75-ASB3) c.717G>A (p.(=)):-,0.16:-,0.166 2 53955985 . C . . NT END=53956594;NT GT ./. 2 53956708 . C . . NT END=53977919;NT GT ./. 2 53956883 rs2302797 T G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8151,G/0.1849;Gene=ASB3/NM_001201965.1/0;CC=c.137-176A>C;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.356-176A>C;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.137-176A>C;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.470-176A>C;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ASB3/Ank_2;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,G,T:12:0:0:0:1,5,6:11,124,160:0.36,11.47,0.00:0.00,0.00,0.00:0.36,11.47,0.00:0.00,0.92,0.00:0.00,0.00,0.00:0.00,0.92,0.00:60,60,60:80.0,79.8,29.8:0,0,0:0,0,0:99,122,72:52,28,77:0,3,10:NM_001164165.1(GPR75-ASB3) c.470-176A>C,-:0.17,-:NOT_FOUND,- 2 53978079 . C . . NT END=53992497;NT GT ./. 2 53992723 . C . . NT END=53995023;NT GT ./. 2 53992859 rs2287340 T G 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.862,G/0.138;Gene=ASB3/NM_001201965.1/0;CC=c.-23-14781A>C;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.-13-137A>C;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.-23-14781A>C;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-137A>C;VC=Intron;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:45:0:0:0:24,21:678,668:65.69,0.00:0.00,0.00:65.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.8,15.0:0,0:0,0:86,108:65,42:37,23:NM_001164165.1(GPR75-ASB3) c.102-137A>C,-:0.12,-:NOT_FOUND,- 2 53994820 rs17045203 C T 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8658,T/0.1342;Gene=ASB3/NM_001201965.1/0;CC=c.-23-16742G>A;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.-13-2098G>A;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.-23-16742G>A;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-2098G>A;VC=Intron;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:18:18:0:0:7,1,10:221,7,285:0.00,0.03,28.20:0.00,0.03,28.20:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:0.0,202.0,54.3:0,0,0:0,0,0:20,123,37:131,20,111:15,0,16:-,NM_001164165.1(GPR75-ASB3) c.102-2098G>A:-,0.12:-,NOT_FOUND 2 53994929 rs62137612 G A 110 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.8786,A/0.1214;PC=0.001;Gene=ASB3/NM_001201965.1/0;CC=c.-23-16851C>T;VC=Intron;Gene=ASB3/NM_016115.4/1;CC=c.-13-2207C>T;VC=Intron;Gene=ASB3/NM_145863.2/0;CC=c.-23-16851C>T;VC=Intron;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-2207C>T;VC=Intron;Gene=CHAC2/NM_001008708.2/1;CC=c.-95G>A;VC=5UTR;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:68:0:0:36,36:1147,1145:110.19,0.00:92.18,0.00:18.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,9.9:0,0:0,0:50,49:95,100:29,28:NM_001008708.2(CHAC2) c.-95G>A,-:0.11,-:NOT_FOUND,- 2 53995159 . G . . NT END=53999043;NT GT ./. 2 53999080 . G . . NT END=54001278;NT GT ./. 2 54001663 . T . . NT END=54014347;NT GT ./. 2 54014510 . G . . NT END=54021481;NT GT ./. 2 54021225 rs2542589 C G 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7614,G/0.2386;PC=0.005;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-28503G>C;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.163-257C>G;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.163-257C>G;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.163-257C>G;VC=Intron;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:6:6:0:0:4,2:135,71:0.00,6.40:0.00,6.40:0.00,0.00:0.00,0.42:0.00,0.42:0.00,0.00:60,60:8.2,35.5:0,0:0,0:13,44:138,107:8,34:-,NM_001164165.1(GPR75-ASB3) c.102-28503G>C:-,0.23:-,NOT_FOUND 2 54021587 . G . . NT END=54023069;NT GT ./. 2 54023151 . G . . NT END=54024651;NT GT ./. 2 54023247 rs72502136 GT G 12 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1107;PC=0.362;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-30526delA;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.348+108delT;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.348+108delT;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.348+108delT;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ERLEC1/PRKCSH;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:GT,G:12:1:0:4:8,4:249,131:0.00,11.70:0.00,1.70:0.00,10.00:0.00,0.80:0.00,0.56:0.00,0.80:60,60:47.4,20.2:0,0:0,0:127,69:24,81:11,29:-,NM_001164165.1(GPR75-ASB3) c.102-30526delA:-,NOT_FOUND:-,NOT_FOUND 2 54023322 rs2692513 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7682,T/0.2318;PC=0.186;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-30600G>A;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.348+172C>T;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.348+172C>T;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.348+172C>T;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ERLEC1/PRKCSH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:4:0:0:0:2,2:54,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,34.5:0,0:0,0:86,114:64,36:61,4:-,NM_001164165.1(GPR75-ASB3) c.102-30600G>A:-,0.22:-,NOT_FOUND 2 54024626 rs2692514 C T 77 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.52,T/0.48;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-31904G>A;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.349-26C>T;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.349-26C>T;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.349-26C>T;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ERLEC1/PRKCSH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:36:0:0:19,25:634,779:0.00,76.76:0.00,53.05:0.00,23.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,51.6:0,0:0,0:38,36:110,114:24,20:-,NM_001164165.1(GPR75-ASB3) c.102-31904G>A:-,0.44:-,0.436942 2 54024730 . G . . NT END=54024868;NT GT ./. 2 54024933 . G . . NT END=54026183;NT GT ./. 2 54024957 rs2949813 C G 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.8796,G/0.1204;PC=0.002;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-32235G>C;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.490+25C>G;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.490+25C>G;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.490+25C>G;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ERLEC1/PRKCSH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:40:20:0:0:22,18:739,607:0.00,57.33:0.00,14.22:0.00,43.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,37.2:0,0:0,0:103,90:34,47:24,23:-,NM_001164165.1(GPR75-ASB3) c.102-32235G>C:-,0.11:-,0.077733 2 54025009 . AT A 7 rn VT=DEL;SST=Single;DP=23;NP=10;PC=0.653;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-32288delA;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.490+87delT;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.490+87delT;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.490+87delT;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ERLEC1/PRKCSH;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:AT,A:23:2:0:3:20,3:632,92:0.00,6.77:0.00,1.37:0.00,5.40:0.00,0.47:0.00,0.37:0.00,0.47:60,60:24.6,11.3:0,0:0,0:108,105:42,46:21,27:-,NM_001164165.1(GPR75-ASB3) c.102-32288delA:-,NOT_FOUND:-,NOT_FOUND 2 54025071 . C T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;NP=2;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-32349G>A;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.490+139C>T;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.490+139C>T;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.490+139C>T;VC=Intron;DM=GPR75-ASB3/Ank_2;DM=ERLEC1/PRKCSH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:C,T:12:0:0:0:4,8:116,247:0.00,25.17:0.00,0.00:0.00,25.17:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.8,48.5:0,0:0,0:105,97:45,53:34,44:-,NM_001164165.1(GPR75-ASB3) c.102-32349G>A:-,NOT_FOUND:-,NOT_FOUND 2 54026219 . G . . NT END=54028533;NT GT ./. 2 54028758 . G . . NT END=54028849;NT GT ./. 2 54028980 . G . . NT END=54035435;NT GT ./. 2 54035374 rs2692519 A G 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.7702,G/0.2298;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-42652T>C;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.880-62A>G;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.880-977A>G;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.880-62A>G;VC=Intron;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:41:0:0:21,24:709,732:0.00,71.06:0.00,52.66:0.00,18.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,68.7:0,0:0,0:71,27:80,116:39,18:-,NM_001164165.1(GPR75-ASB3) c.102-42652T>C:-,0.22:-,NOT_FOUND 2 54035447 rs1127362 A G 141 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.8273,G/0.1727;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.102-42725T>C;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.891A>G;ProtCh=p.Q297=;VC=Silent;Gene=ERLEC1/NM_001127398.2/0;CC=c.880-904A>G;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.891A>G;ProtCh=p.Q297=;VC=Silent;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:64:0:0:40,42:1245,1457:0.00,141.07:0.00,78.85:0.00,62.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,48.8:0,0:0,0:50,65:98,82:27,26:-,NM_015701.4(ERLEC1) c.891A>G (p.(=)):-,0.16:-,0.167846 2 54035598 . G . . NT END=54036350;NT GT ./. 2 54036411 . G . . NT END=54040085;NT GT ./. 2 54040211 . G . . NT END=54041679;NT GT ./. 2 54041758 . G . . NT END=54041996;NT GT ./. 2 54041983 rs2542571 G T 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.5138,T/0.4862;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.101+44982C>A;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.1227-14G>T;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.1143-14G>T;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.1305-14G>T;VC=Intron;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:45:36:0:0:32,13:1071,410:0.00,35.45:0.00,22.32:0.00,13.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,38.0:0,0:0,0:55,40:93,89:34,22:-,NM_001164165.1(GPR75-ASB3) c.101+44982C>A:-,0.45:-,0.456936 2 54042073 . G . . NT END=54045034;NT GT ./. 2 54042132 . CTT C 8 idl,rn VT=DEL;SST=Single;DP=26;PC=0.049;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.101+44831_101+44832delAA;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.1302+80_1302+81delTT;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.1218+80_1218+81delTT;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.1380+80_1380+81delTT;VC=Intron;DM=GPR75-ASB3/Ank_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:CTT,T,I,C:24:7:3:5:16,2,3,3:477,42,90,150:0.00,2.45,6.77,7.77:0.00,-0.16,-0.24,1.18:0.00,2.60,7.01,6.59:0.00,0.00,0.00,0.45:0.00,0.00,0.00,0.54:0.00,0.00,0.00,0.87:60,60,60,60:13.4,27.0,45.3,96.7:0,0,0,2:0,0,0,0:133,15,119,95:17,135,31,56:10,12,5,15:-,NM_001164165.1(GPR75-ASB3) c.101+44831_101+44832delAA:-,NOT_FOUND:-,NOT_FOUND 2 54042149 rs577075458 T G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9988,G/0.001198;NP=12;PC=0.012;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.101+44816A>C;VC=Intron;Gene=ERLEC1/NM_001127397.2/0;CC=c.1302+77T>G;VC=Intron;Gene=ERLEC1/NM_001127398.2/0;CC=c.1218+77T>G;VC=Intron;Gene=ERLEC1/NM_015701.4/1;CC=c.1380+77T>G;VC=Intron;DM=GPR75-ASB3/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:G,T:18:2:0:0:5,13:155,427:13.27,0.00:-0.21,0.00:13.48,0.00:0.87,0.00:0.57,0.00:0.99,0.00:60,60:58.0,29.5:0,0:0,0:109,135:42,13:16,7:NM_001164165.1(GPR75-ASB3) c.101+44816A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 54045107 . A . . NT END=54080270;NT GT ./. 2 54081894 . T . . NT END=54086964;NT GT ./. 2 54085539 . GAC G 9 sb,rn VT=DEL;SST=Single;DP=4;NP=17;PC=0.082;Gene=GPR75-ASB3/NM_001164165.1/1;CC=c.101+1424_101+1425delGT;VC=Intron;Gene=GPR75/NM_006794.3/1;CC=c.-110+1424_-110+1425delGT;VC=Intron;DM=GPR75-ASB3/Ank_2;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GAC,G:4:2:0:3:1,3:36,89:0.00,9.35:0.00,1.22:0.00,8.13:0.00,0.85:0.00,0.95:0.00,0.99:60,60:0.0,46.3:0,0:0,0:121,97:29,53:0,5:-,NM_001164165.1(GPR75-ASB3) c.101+1424_101+1425delGT:-,NOT_FOUND:-,NOT_FOUND 2 54087066 . C . . NT END=54093225;NT GT ./. 2 54087274 rs3215339 C CAGA 11 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6498,CAGA/0.3502;NP=284;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,CAGA:13:0:4:0:9,4:287,129:0.00,11.32:0.00,0.00:0.00,11.32:0.00,0.79:0.00,0.00:0.00,0.79:60,60:22.9,11.5:0,0:0,0:135,75:16,76:14,21:-,NM_001164165.1(GPR75-ASB3) c.-105-u105_-105-u104insTCT:-,0.31:-,NOT_FOUND 2 54093361 . C . . NT END=54093883;NT GT ./. 2 54094018 . C . . NT END=54096512;NT GT ./. 2 54096676 . C . . NT END=54101475;NT GT ./. 2 54101632 . C . . NT END=54102763;NT GT ./. 2 54102893 . C . . NT END=54112826;NT GT ./. 2 54112913 . C . . NT END=54114395;NT GT ./. 2 54114605 . C . . NT END=54114994;NT GT ./. 2 54114762 rs805398 G A 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7963,A/0.2037;Gene=PSME4/NM_014614.2/1;CC=c.4521-158C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:338:38.57:0.00:38.57:1.00:0.00:1.00:60:59.0:0:0:89:61:31:NM_014614.2(PSME4) c.4521-158C>T,NM_014614.2(PSME4) c.4521-158C>T:0.19,0.19:NOT_FOUND,NOT_FOUND 2 54114967 rs805399 G A 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6536,A/0.3464;Gene=PSME4/NM_014614.2/1;CC=c.4520+28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:19:0:0:12,8:388,274:38.67,0.00:35.41,0.00:3.26,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:35.3,2.8:0,0:0,0:30,76:107,74:21,26:NM_014614.2(PSME4) c.4520+28C>T,-:0.3,-:0.270414,- 2 54115127 . C . . NT END=54115857;NT GT ./. 2 54115904 rs805400 A G 45 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.648,G/0.352;PC=1.000;Gene=PSME4/NM_014614.2/1;CC=c.4342T>C;ProtCh=p.L1448=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:21:0:0:13,15:427,466:0.00,45.29:0.00,21.26:0.00,24.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,41.7:0,0:0,0:59,61:78,66:22,26:-,NM_014614.2(PSME4) c.4342T>C (p.(=)):-,0.3:-,0.278026 2 54115950 . C . . NT END=54117240;NT GT ./. 2 54116003 rs805401 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6486,T/0.3514;PC=0.038;Gene=PSME4/NM_014614.2/1;CC=c.4297-54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:11:6:0:0:6,5:196,160:0.00,15.09:0.00,4.24:0.00,10.85:0.00,0.93:0.00,0.96:0.00,0.99:60,60:2.0,56.4:0,0:0,0:142,105:8,46:5,15:-,NM_014614.2(PSME4) c.4297-54G>A:-,0.3:-,0.272011 2 54117346 . C . . NT END=54119944;NT GT ./. 2 54120025 rs805408 A T 42 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.6508,T/0.3492;PC=1.000;Gene=PSME4/NM_014614.2/1;CC=c.4111T>A;ProtCh=p.S1371T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:51:28:0:0:36,15:1146,482:0.00,41.94:0.00,6.62:0.00,35.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,38.7:0,0:0,0:68,42:79,109:31,24:-,NM_014614.2(PSME4) c.4111T>A (p.Ser1371Thr):-,0.3:-,0.271106 2 54120098 . C . . NT END=54120810;NT GT ./. 2 54120820 rs805412 G A 18 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4269,A/0.5731;PC=1.000;Gene=PSME4/NM_014614.2/1;CC=c.4029C>T;ProtCh=p.C1343=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:17:0:0:7,15:211,430:18.47,0.00:9.49,0.00:8.98,0.00:0.97,0.00:0.99,0.00:0.98,0.00:60,60:34.3,8.9:0,0:0,0:60,40:91,100:18,14:NM_014614.2(PSME4) c.4029C>T (p.(=)),-:0.54,-:0.455448,- 2 54120937 . C . . NT END=54122143;NT GT ./. 2 54122214 . C . . NT END=54122719;NT GT ./. 2 54122625 rs805413 C T 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=PSME4/NM_014614.2/1;CC=c.3842+95G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:C,G,T:21:21:0:0:5,1,15:171,11,465:0.00,0.31,48.74:0.00,0.32,49.01:0.00,-0.01,-0.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.81:60,60,60:2.2,178.0,40.5:0,0,0:0,0,0:65,7,60:85,143,91:41,0,27:-,NM_014614.2(PSME4) c.3842+95G>A:-,0.19:-,NOT_FOUND 2 54122874 . C . . NT END=54123940;NT GT ./. 2 54122956 rs698856 A G 79 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=PSME4/NM_014614.2/1;CC=c.3689-83T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:4:0:0:22:685:78.94:10.68:68.26:1.00:1.00:1.00:60:50.0:0:0:121:29:16:NM_014614.2(PSME4) c.3689-83T>C,NM_014614.2(PSME4) c.3689-83T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 54122984 rs698857 C T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6552,T/0.3448;Gene=PSME4/NM_014614.2/1;CC=c.3689-111G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:C,T:14:1:0:0:6,8:176,227:0.00,22.35:0.00,-0.37:0.00,22.72:0.00,1.00:0.00,0.71:0.00,1.00:60,60:49.7,62.9:0,0:0,0:128,67:22,83:15,50:-,NM_014614.2(PSME4) c.3689-111G>A:-,0.3:-,NOT_FOUND 2 54124023 . C . . NT END=54125006;NT GT ./. 2 54124791 rs805415 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6496,C/0.3504;Gene=PSME4/NM_014614.2/1;CC=c.3606+216A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:42.2:0:0:30:120:15:NM_014614.2(PSME4) c.3606+216A>G,NM_014614.2(PSME4) c.3606+216A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 2 54125137 . C . . NT END=54125437;NT GT ./. 2 54125185 . G GA 6 rn VT=INS;SST=Single;DP=34;NP=3;Gene=PSME4/NM_014614.2/1;CC=c.3477-50dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:G,GA:34:18:3:0:31,3:984,93:0.00,6.33:0.00,0.93:0.00,5.40:0.00,0.40:0.00,0.70:0.00,0.82:60,60:20.1,22.7:0,0:0,0:105,57:40,93:24,8:-,NM_014614.2(PSME4) c.3477-50_3477-49insT:-,NOT_FOUND:-,NOT_FOUND 2 54125258 rs805416 T C 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5158,C/0.4842;Gene=PSME4/NM_014614.2/1;CC=c.3477-122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:8:0:0:14,9:479,258:47.93,0.00:9.29,0.00:38.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,21.2:0,0:0,0:86,98:64,53:47,26:NM_014614.2(PSME4) c.3477-122A>G,-:0.45,-:NOT_FOUND,- 2 54125492 . C . . NT END=54127017;NT GT ./. 2 54125495 rs805417 T C 53 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6466,TA/0.00619;DB;DBA=NA;PAF=T/0.6466,C/0.3472;PC=0.506;Gene=PSME4/NM_014614.2/1;CC=c.3423-4A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:19:0:0:16,17:555,523:53.23,0.00:24.97,0.00:28.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,6.3:0,0:0,0:68,70:82,79:24,24:NM_014614.2(PSME4) c.3423-4A>G,-:0.3,-:0.269426,- 2 54126759 rs805422 C A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4227,A/0.5773;PC=0.004;Gene=PSME4/NM_014614.2/1;CC=c.3422+259G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:6:6:0:0:4,2:128,66:13.05,0.00:13.05,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:54.5,0.0:0,0:0,0:42,69:108,81:28,56:NM_014614.2(PSME4) c.3422+259G>T,-:0.54,-:NOT_FOUND,- 2 54127041 rs805423 C T 100 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.3914,T/0.6086;PC=1.000;Gene=PSME4/NM_014614.2/1;CC=c.3399G>A;ProtCh=p.Q1133=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:47:0:0:27,30:899,1028:0.00,99.99:0.00,58.24:0.00,41.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,38.2:0,0:0,0:58,78:93,65:25,29:-,NM_014614.2(PSME4) c.3399G>A (p.(=)):-,0.58:-,0.518761 2 54127155 . C . . NT END=54128486;NT GT ./. 2 54128697 . C . . NT END=54131161;NT GT ./. 2 54131004 rs200037710 A AT 12 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8982,AT/0.1018;NP=202;Gene=PSME4/NM_014614.2/1;CC=c.3075+157_3075+158insA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AT:6:6:4:0:2,4:68,122:0.00,12.45:0.00,12.45:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,24.2:0,0:0,0:31,16:118,134:25,3:-,NM_014614.2(PSME4) c.3075+157_3075+158insA:-,0.1:-,NOT_FOUND 2 54131014 rs805427 A T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7506,AT/0.2494;DB;DBA=NA;PAF=A/0.7949,T/0.2051;Gene=PSME4/NM_014614.2/1;CC=c.3075+148T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,T:7:7:0:0:3,4:96,86:0.00,8.36:0.00,8.36:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:11.0,24.2:0,0:0,0:16,27:134,123:13,3:-,NM_014614.2(PSME4) c.3075+148T>A:-,NOT_FOUND:-,NOT_FOUND 2 54131294 . C . . NT END=54133734;NT GT ./. 2 54133744 rs805316 T C 29 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.7861,C/0.2139,G/.;PC=0.002;Gene=PSME4/NM_014614.2/1;CC=c.2934A>G;ProtCh=p.S978=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:19:0:0:9,11:307,362:29.02,0.00:24.37,0.00:4.65,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:51.7,5.6:0,0:0,0:59,53:90,97:26,12:NM_014614.2(PSME4) c.2934A>G (p.(=)),-:0.2,-:0.229433,- 2 54133831 . C . . NT END=54133942;NT GT ./. 2 54134006 . C . . NT END=54135456;NT GT ./. 2 54134165 rs56042602 A AAT 9 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6446,AAT/0.3554;DB;DBA=NA;PAF=A/0.6446,AAT/0.3554;NP=77;PC=0.020;Gene=PSME4/NM_014614.2/1;CC=c.2785-162_2785-161dupAT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,AAT:9:0:3:0:6,3:198,98:0.00,8.74:0.00,0.00:0.00,8.74:0.00,0.64:0.00,0.00:0.00,0.64:60,60:0.0,3.0:0,0:0,0:66,102:85,48:26,1:-,NM_014614.2(PSME4) c.2785-161_2785-160insAT:-,0.3:-,NOT_FOUND 2 54135429 rs805319 G C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6486,C/0.3514;Gene=PSME4/NM_014614.2/1;CC=c.2784+28C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:22:19:0:0:9,13:296,432:27.43,0.00:20.90,0.00:6.53,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:38.9,4.8:0,0:0,0:21,53:128,94:16,27:NM_014614.2(PSME4) c.2784+28C>G,-:0.31,-:0.275392,- 2 54135556 . C . . NT END=54135646;NT GT ./. 2 54135703 . C . . NT END=54135920;NT GT ./. 2 54135978 . C . . NT END=54137211;NT GT ./. 2 54137268 . C . . NT END=54146287;NT GT ./. 2 54146384 . C . . NT END=54147329;NT GT ./. 2 54147488 . C . . NT END=54148025;NT GT ./. 2 54148242 . C . . NT END=54149653;NT GT ./. 2 54148331 rs805330 C A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4159,A/0.5841;Gene=PSME4/NM_014614.2/1;CC=c.2047-90G>T;VC=Intron;DM=PSME4/BLM10_mid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,C:10:1:0:0:6,4:197,134:19.64,0.00:1.58,0.00:18.06,0.00:0.99,0.00:0.73,0.00:0.99,0.00:60,60:52.0,0.0:0,0:0,0:87,93:61,56:30,9:NM_014614.2(PSME4) c.2047-90G>T,-:0.55,-:NOT_FOUND,- 2 54149722 . C . . NT END=54150185;NT GT ./. 2 54150256 . C . . NT END=54150457;NT GT ./. 2 54150557 . C . . NT END=54152675;NT GT ./. 2 54152827 . C . . NT END=54153095;NT GT ./. 2 54152927 rs2302879 T C 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6484,C/0.3516;Gene=PSME4/NM_014614.2/1;CC=c.1659-101A>G;VC=Intron;DM=PSME4/BLM10_mid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:12:0:0:21,15:722,477:71.60,0.00:14.79,0.00:56.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,4.7:0,0:0,0:118,81:32,70:22,32:NM_014614.2(PSME4) c.1659-101A>G,-:0.31,-:NOT_FOUND,- 2 54153161 . C . . NT END=54154530;NT GT ./. 2 54154621 . C . . NT END=54155253;NT GT ./. 2 54155240 rs805349 A G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.6436,G/0.3564;PC=0.004;Gene=PSME4/NM_014614.2/1;CC=c.1503+14T>C;VC=Intron;DM=PSME4/BLM10_mid;DM=PSME4/BLM10_mid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:36:0:0:28,11:929,316:0.00,26.75:0.00,20.69:0.00,6.06:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.2,38.3:0,0:0,0:68,59:82,92:29,42:-,NM_014614.2(PSME4) c.1503+14T>C:-,0.31:-,0.284177 2 54155441 . C . . NT END=54158971;NT GT ./. 2 54158957 rs805352 C T 76 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.6502,T/0.3498;PC=0.001;Gene=PSME4/NM_014614.2/1;CC=c.1316+15G>A;VC=Intron;DM=PSME4/BLM10_mid;DM=PSME4/BLM10_mid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:41:0:0:23,24:723,792:0.00,76.50:0.00,47.29:0.00,29.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,36.6:0,0:0,0:56,42:91,103:36,26:-,NM_014614.2(PSME4) c.1316+15G>A:-,0.3:-,0.276565 2 54159238 . C . . NT END=54159804;NT GT ./. 2 54159898 . C . . NT END=54161741;NT GT ./. 2 54161865 . C . . NT END=54163223;NT GT ./. 2 54161885 rs805357 G T 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6528,T/0.3472;PC=0.151;Gene=PSME4/NM_014614.2/1;CC=c.835-21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:24:9:0:0:12,12:409,369:0.00,35.40:0.00,12.00:0.00,23.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,47.4:0,0:0,0:84,116:66,34:41,17:-,NM_014614.2(PSME4) c.835-21C>A:-,0.3:-,0.2621 2 54162022 rs805358 C T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4197,T/0.5803;PC=0.083;Gene=PSME4/NM_014614.2/1;CC=c.835-158G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:7:1:0:0:4,3:141,95:0.00,8.85:0.00,-0.24:0.00,9.10:0.00,0.69:0.00,0.62:0.00,0.95:60,60:0.0,59.7:0,0:0,0:74,103:76,47:44,39:-,NM_014614.2(PSME4) c.835-158G>A:-,0.55:-,NOT_FOUND 2 54163299 . C . . NT END=54163900;NT GT ./. 2 54163965 . C . . NT END=54164527;NT GT ./. 2 54164678 . C . . NT END=54167092;NT GT ./. 2 54164848 rs805360 G T 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5341,T/0.4659;PC=0.005;Gene=PSME4/NM_014614.2/1;CC=c.546-171C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:G,T:9:0:0:0:2,7:69,204:0.00,21.63:0.00,0.00:0.00,21.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,46.6:0,0:0,0:51,45:98,106:47,25:-,NM_014614.2(PSME4) c.546-171C>A:-,0.44:-,NOT_FOUND 2 54167138 . C . . NT END=54175557;NT GT ./. 2 54175675 . C . . NT END=54176279;NT GT ./. 2 54176421 . c . . NT END=54197679;NT GT ./. 2 54176585 rs370113449 CT C 11 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CT/0.6629,C/0.3371;NP=13;Gene=PSME4/NM_014614.2/1;CC=c.243-166delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:CT,G,I,C:11:1:1:4:5,1,1,4:153,10,30,123:0.00,0.32,2.23,11.47:0.00,0.53,0.00,0.00:0.00,-0.21,2.23,11.47:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.58:0.00,0.00,0.00,0.98:60,60,60,60:17.4,98.0,0.0,27.2:0,0,0,0:0,0,0,0:126,74,110,97:24,55,40,53:22,0,0,16:-,NM_014614.2(PSME4) c.243-166delA:-,NOT_FOUND:-,NOT_FOUND 2 54197922 . G . . NT END=54342835;NT GT ./. 2 54197943 rs546633951 A C 19 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=NA;Gene=PSME4/NM_014614.2/1;CC=c.-22T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,C,G,T:73:12:0:1:54,16,1,2:1323,277,5,23:0.00,19.13,-0.30,-0.01:0.00,17.33,0.02,-0.03:0.00,1.80,-0.31,0.02:0.00,1.00,0.00,0.00:0.00,0.91,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:10.7,46.2,84.0,102.5:0,0,0,0:0,0,0,0:79,121,99,93:66,9,38,57:33,19,0,1:-,NM_014614.2(PSME4) c.-22T>G:-,NOT_FOUND:-,NOT_FOUND 2 54278585 rs1559037 C G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5415,G/0.4585,T/.;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,G:8:5:0:0:4,4:135,121:0.00,11.60:0.00,2.62:0.00,8.98:0.00,0.87:0.00,0.96:0.00,0.51:60,60:3.2,89.8:0,0:0,0:14,56:136,95:7,31:-,chr2 g.54278584C>G (intergenic):-,0.42:-,NOT_FOUND 2 54278604 rs7590819 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.656,C/0.344;PC=0.756 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:7:5:0:0:3,4:94,122:8.76,0.00:2.76,0.00:6.00,0.00:0.69,0.00:0.93,0.00:0.83,0.00:60,60:99.3,3.2:0,0:0,0:62,33:89,117:26,7:chr2 g.54278603T>C (intergenic),-:0.29,-:NOT_FOUND,- 2 54301715 rs72086142 TTG T 9 sb;idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;PC=0.002;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:5:0:6:3:189:9.43:1.24:8.19:0.73:0.96:0.73:60:13.0:3:0:50:91:25:chr2 g.54301716_54301717delTG (intergenic),chr2 g.54301716_54301717delTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 54342894 . G . . NT END=54362589;NT GT ./. 2 54343012 rs7573491 C A 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.3948,A/0.6052;PC=0.001;Gene=ACYP2/NM_138448.3/1;CC=c.58+119C>A;VC=Intron;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:1:0:0:15,18:482,450:45.58,0.00:-0.26,0.00:45.84,0.00:1.00,0.00:0.64,0.00:1.00,0.00:60,60:52.6,25.7:0,0:0,0:84,109:67,41:47,31:NM_138448.3(ACYP2) c.58+119C>A,-:0.59,-:NOT_FOUND,- 2 54343108 rs9808326 G C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3838,C/0.6162;Gene=ACYP2/NM_138448.3/1;CC=c.58+215G>C;VC=Intron;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:C,G:11:0:0:0:5,6:144,186:13.49,0.00:0.00,0.00:13.49,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:68.0,48.2:0,0:0,0:129,102:22,48:13,20:NM_138448.3(ACYP2) c.58+215G>C,-:0.6,-:NOT_FOUND,- 2 54362607 . G . . NT END=54365775;NT GT ./. 2 54365886 . G . . NT END=54482055;NT GT ./. 2 54366096 rs2287639 A G 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5138,G/0.4862;PC=0.002;Gene=ACYP2/NM_138448.3/1;CC=c.185+211A>G;VC=Intron;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:9:0:0:0:2,7:40,216:0.00,22.92:0.00,0.00:0.00,22.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:81.5,45.1:0,0:0,0:90,119:54,31:44,29:-,NM_138448.3(ACYP2) c.185+211A>G:-,0.47:-,NOT_FOUND 2 54434344 . A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;NP=2;Gene=ACYP2/NM_138448.3/1;CC=c.185+68459A>G;VC=Intron;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:6:4:0:0:4,2:109,70:0.00,6.31:0.00,3.25:0.00,3.06:0.00,0.42:0.00,0.81:0.00,0.86:60,60:15.2,51.5:0,2:0,0:113,36:36,54:19,2:-,NM_138448.3(ACYP2) c.185+68459A>G:-,NOT_FOUND:-,NOT_FOUND 2 54483272 rs61736715 C A 234 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=C/0.9519,A/0.04812;PC=0.004;Gene=ACYP2/NM_138448.3/1;CC=c.186-48553C>A;VC=Intron;Gene=TSPYL6/NM_001003937.2/1;CC=c.17G>T;ProtCh=p.S6I;VC=Missense;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase;DM=ACYP2/Acylphosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:141:82:0:0:77,64:2395,2134:233.93,0.00:99.17,0.00:134.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,6.4:0,0:0,0:81,66:67,72:35,29:NM_001003937.2(TSPYL6) c.17G>T (p.Ser6Ile),-:0.06,-:0.087086,- 2 54483289 . G . . NT END=54531824;NT GT ./. 2 54531940 . T . . NT END=54558112;NT GT ./. 2 54558139 . G . . NT END=54561953;NT GT ./. 2 54562162 . G . . NT END=54567041;NT GT ./. 2 54562298 rs10194310 A T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8854,T/0.1146;PC=0.001;Gene=C2orf73/NM_001100396.1/1;CC=c.234+137A>T;VC=Intron;DM=C2orf73/GDWWSH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:443:50.97:0.00:50.97:1.00:0.00:1.00:60:36.3:0:0:110:41:22:NM_001100396.1(C2orf73) c.234+137A>T,NM_001100396.1(C2orf73) c.234+137A>T:0.11,0.11:NOT_FOUND,NOT_FOUND 2 54567060 . G . . NT END=54570856;NT GT ./. 2 54571011 . G . . NT END=54586095;NT GT ./. 2 54586212 . G . . NT END=54587339;NT GT ./. 2 54587378 rs2280717 C G 358 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.8712,G/0.1288;PC=0.998;Gene=C2orf73/NM_001100396.1/1;CC=c.543C>G;ProtCh=p.G181=;VC=Silent;DM=C2orf73/GDWWSH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:71:0:0:98:3119:358.46:204.89:153.57:1.00:1.00:1.00:60:38.5:0:0:78:71:37:NM_001100396.1(C2orf73) c.543C>G (p.(=)),NM_001100396.1(C2orf73) c.543C>G (p.(=)):0.12,0.12:0.124525,0.124525 2 54587700 . A . . NT END=54753555;NT GT ./. 2 54753266 rs7589236 C G 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2165,G/0.7835;Gene=SPTBN1/NM_003128.2/1;CC=c.-47-243C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:9:0:0:10:255:30.15:26.27:3.88:1.00:1.00:1.00:60:40.3:0:0:40:110:22:NM_003128.2(SPTBN1) c.-47-243C>G,NM_003128.2(SPTBN1) c.-47-243C>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 54753704 . G . . NT END=54784872;NT GT ./. 2 54753991 rs4671224 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7061,T/0.2939;Gene=SPTBN1/NM_003128.2/1;CC=c.148+288C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,T:8:0:0:0:2,6:21,186:0.00,19.59:0.00,0.00:0.00,19.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:24.5,36.7:0,0:0,0:116,127:34,23:19,3:-,NM_003128.2(SPTBN1) c.148+288C>T:-,0.32:-,NOT_FOUND 2 54756740 rs1802889 C T 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2608,T/0.7392;PC=0.931;Gene=SPTBN1/NM_003128.2/1;CC=c.148+3037C>T;VC=Intron;Gene=RPL23AP32/NR_002229.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:168:19.18:9.84:9.34:1.00:1.00:1.00:60:36.6:0:0:78:57:45:NR_002229.2(RPL23AP32) n.382C>T,NR_002229.2(RPL23AP32) n.382C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 2 54786025 . G . . NT END=54826228;NT GT ./. 2 54798596 rs4671961 G A 16 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3179,A/0.6821;Gene=SPTBN1/NM_003128.2/1;CC=c.149-27633G>A;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.109+12572G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:13.72:1.99:1.00:1.00:1.00:70:61.8:0:0:72:77:29:NM_003128.2(SPTBN1) c.149-27633G>A,NM_003128.2(SPTBN1) c.149-27633G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 2 54798705 rs62134677 C T 12 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=31;PC=0.030;Gene=SPTBN1/NM_003128.2/1;CC=c.149-27524C>T;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.109+12681C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:2:4:106:12.47:6.96:5.52:1.00:1.00:1.00:70:56.8:4:0:110:27:16:NM_003128.2(SPTBN1) c.149-27524C>T,NM_003128.2(SPTBN1) c.149-27524C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 54798709 rs79102230 CACAT C 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=101;PC=0.012;Gene=SPTBN1/NM_003128.2/1;CC=c.149-27516_149-27513delTACA;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.109+12689_109+12692delTACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:6:4:122:14.11:8.39:5.72:1.00:1.00:1.00:70:45.5:0:0:114:23:17:NM_003128.2(SPTBN1) c.149-27519_149-27516delACAT,NM_003128.2(SPTBN1) c.149-27519_149-27516delACAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 54826381 . G . . NT END=54839297;NT GT ./. 2 54839276 rs3796014 A G 228 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.2498,G/0.7502;Gene=SPTBN1/NM_003128.2/1;CC=c.301-22A>G;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.262-22A>G;VC=Intron;DM=SPTBN1/CH;DM=SPTBN1/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:55:0:0:59:1998:227.89:183.15:44.75:1.00:1.00:1.00:60:42.9:0:0:48:98:30:NM_003128.2(SPTBN1) c.301-22A>G,NM_003128.2(SPTBN1) c.301-22A>G:0.75,0.75:0.800707,0.800707 2 54839472 . G . . NT END=54843343;NT GT ./. 2 54843200 rs3796013 C A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.885,A/0.115;Gene=SPTBN1/NM_003128.2/1;CC=c.475-144C>A;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.436-144C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,C:12:12:0:0:3,9:102,314:8.70,0.00:8.70,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:60,60:70.3,33.2:0,0:0,0:40,45:110,106:5,22:NM_003128.2(SPTBN1) c.475-144C>A,-:0.11,-:NOT_FOUND,- 2 54843214 rs3796012 A G 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7422,G/0.2578;Gene=SPTBN1/NM_003128.2/1;CC=c.475-130A>G;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.436-130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G:18:18:0:0:6,12:198,354:0.00,36.09:0.00,36.09:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:37.0,36.9:0,0:0,0:31,43:119,108:23,22:-,NM_003128.2(SPTBN1) c.475-130A>G:-,0.29:-,NOT_FOUND 2 54843436 . G . . NT END=54844744;NT GT ./. 2 54844790 rs2229506 C T 97 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.8866,G/.,T/0.1134;PC=0.004;Gene=SPTBN1/NM_003128.2/1;CC=c.612C>T;ProtCh=p.D204=;VC=Silent;Gene=SPTBN1/NM_178313.2/0;CC=c.573C>T;ProtCh=p.D191=;VC=Silent;DM=SPTBN1/CH;DM=SPTBN1/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:47:0:0:37,31:1113,1028:0.00,97.33:0.00,44.85:0.00,52.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.1,37.5:0,0:0,0:79,88:67,61:25,34:-,NM_003128.2(SPTBN1) c.612C>T (p.(=)):-,0.11:-,0.143549 2 54844826 . G . . NT END=54845214;NT GT ./. 2 54844911 rs72618664 G A 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7163,A/0.2837;Gene=SPTBN1/NM_003128.2/1;CC=c.647+86G>A;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.608+86G>A;VC=Intron;DM=SPTBN1/CH;DM=SPTBN1/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:3:0:0:14,15:426,421:40.60,0.00:5.86,0.00:34.74,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:45.5,40.1:0,0:0,0:86,85:65,66:31,29:NM_003128.2(SPTBN1) c.647+86G>A,-:0.32,-:NOT_FOUND,- 2 54844970 rs62134708 G A 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.8926,A/0.1074;Gene=SPTBN1/NM_003128.2/1;CC=c.647+145G>A;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.608+145G>A;VC=Intron;DM=SPTBN1/CH;DM=SPTBN1/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:24:7:0:0:12,11,1:370,335,8:35.76,0.00,0.01:9.83,0.00,0.16:25.94,0.00,-0.15:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:54.9,29.4,146.0:0,0,0:0,0,0:113,95,40:38,56,111:23,32,0:NM_003128.2(SPTBN1) c.647+145G>A,-:0.11,-:NOT_FOUND,- 2 54845331 . G . . NT END=54848536;NT GT ./. 2 54848650 . G . . NT END=54849436;NT GT ./. 2 54849625 . G . . NT END=54850615;NT GT ./. 2 54850734 . G . . NT END=54851940;NT GT ./. 2 54852100 . G . . NT END=54853068;NT GT ./. 2 54852258 rs4426562 A T 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.879,T/0.121;PC=0.518;Gene=SPTBN1/NM_003128.2/1;CC=c.1341+159A>T;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.1302+159A>T;VC=Intron;DM=SPTBN1/Spectrin;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:30:0:0:0:16,14:522,449:0.00,42.58:0.00,0.00:0.00,42.58:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.7,36.9:0,0:0,0:111,119:39,32:12,15:-,NM_003128.2(SPTBN1) c.1341+159A>T:-,0.12:-,NOT_FOUND 2 54853372 . G . . NT END=54855233;NT GT ./. 2 54853529 rs4671964 A G 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.7416,G/0.2584;PC=0.001;Gene=SPTBN1/NM_003128.2/1;CC=c.1644+158A>G;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.1605+158A>G;VC=Intron;DM=SPTBN1/Spectrin;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:0:0:0:16,14:546,408:0.00,38.46:0.00,0.00:0.00,38.46:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.9,53.6:0,0:0,0:91,100:59,50:24,37:-,NM_003128.2(SPTBN1) c.1644+158A>G:-,0.29:-,NOT_FOUND 2 54855137 rs2971887 T C 179 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.2434,C/0.7566;Gene=SPTBN1/NM_003128.2/1;CC=c.1645-97T>C;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.1606-97T>C;VC=Intron;DM=SPTBN1/Spectrin;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:C:48:46:0:0:48:1562:179.05:153.40:25.65:1.00:1.00:1.00:60:43.5:0:0:42:105:34:NM_003128.2(SPTBN1) c.1645-97T>C,NM_003128.2(SPTBN1) c.1645-97T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 54855388 . G . . NT END=54856069;NT GT ./. 2 54856941 . G . . NT END=54857028;NT GT ./. 2 54857167 . G . . NT END=54857991;NT GT ./. 2 54858511 rs1052788 C T 326 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=242;DB;DBA=NA;PAF=C/0.7596,T/0.2404;PC=0.004;Gene=SPTBN1/NM_003128.2/1;CC=c.3327C>T;ProtCh=p.N1109=;VC=Silent;Gene=SPTBN1/NM_178313.2/0;CC=c.3288C>T;ProtCh=p.N1096=;VC=Silent;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:242:176:0:0:136,106:4236,3473:0.00,325.92:0.00,193.59:0.00,132.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,40.7:0,0:0,0:69,71:80,79:34,38:-,NM_003128.2(SPTBN1) c.3327C>T (p.(=)):-,0.27:-,0.231355 2 54858749 . G . . NT END=54859702;NT GT ./. 2 54859906 . G . . NT END=54864849;NT GT ./. 2 54864941 . G . . NT END=54870119;NT GT ./. 2 54870267 . G . . NT END=54871459;NT GT ./. 2 54871119 rs56299899 CAAT C 10 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.083;Gene=SPTBN1/NM_003128.2/1;CC=c.4006-313_4006-311delAAT;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.3967-313_3967-311delAAT;VC=Intron;DM=SPTBN1/Spectrin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:5:0:5:3:155:9.96:9.96:0.00:0.78:0.78:0.00:60:16.7:2:0:77:73:14:NM_003128.2(SPTBN1) c.4006-340_4006-338delAAT,NM_003128.2(SPTBN1) c.4006-340_4006-338delAAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 54871277 rs2271322 T A 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3642,A/0.6358;Gene=SPTBN1/NM_003128.2/1;CC=c.4006-183T>A;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.3967-183T>A;VC=Intron;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:418:47.96:47.96:0.00:1.00:1.00:0.00:60:37.3:0:0:34:117:23:NM_003128.2(SPTBN1) c.4006-183T>A,NM_003128.2(SPTBN1) c.4006-183T>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 54871724 . G . . NT END=54872365;NT GT ./. 2 54872591 . G . . NT END=54873064;NT GT ./. 2 54873155 . G . . NT END=54873330;NT GT ./. 2 54873613 . G . . NT END=54874267;NT GT ./. 2 54874399 . G . . NT END=54876122;NT GT ./. 2 54875799 rs2941594 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9407,A/0.05931;PC=0.001;Gene=SPTBN1/NM_003128.2/1;CC=c.4998-324G>A;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.4959-324G>A;VC=Intron;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G:4:4:0:0:3,1:100,30:10.45,0.00:10.45,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:39.3,38.0:0,0:0,0:72,119:79,32:10,0:NM_003128.2(SPTBN1) c.4998-324G>A,-:0.06,-:NOT_FOUND,- 2 54876328 . G . . NT END=54876751;NT GT ./. 2 54877127 . G . . NT END=54880745;NT GT ./. 2 54880991 . G . . NT END=54882206;NT GT ./. 2 54882091 rs372320097 ACCATCAGTTTCTTTCAAGG A 57 nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=ACCATCAGTTTCTTTCAAGG/0.7376,A/0.2624;DB;DBA=NA;PAF=ACCATCAGTTTCTTTCAAGG/0.7376,A/0.2624;NP=273;PC=0.004;Gene=SPTBN1/NM_003128.2/1;CC=c.5823-98_5823-80delGGCCATCAGTTTCTTTCAA;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.5784-98_5784-80delGGCCATCAGTTTCTTTCAA;VC=Intron;DM=SPTBN1/Spectrin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACCATCAGTTTCTTTCAAGG,A:31:30:0:19:12,19:375,573:0.00,57.37:0.00,50.66:0.00,6.71:0.00,1.00:0.00,1.00:0.00,0.99:60,70:9.3,4.9:0,0:0,0:90,61:60,89:39,27:-,NM_003128.2(SPTBN1) c.5823-115_5823-97delCCATCAGTTTCTTTCAAGG:-,NOT_FOUND:-,NOT_FOUND 2 54882346 . G . . NT END=54883050;NT GT ./. 2 54883136 . G . . NT END=54884986;NT GT ./. 2 54884870 rs966003 C T 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.5431,T/0.4569;Gene=SPTBN1/NM_003128.2/1;CC=c.6047-117C>T;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.6008-117C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:44:0:0:22,22:684,660:0.00,63.18:0.00,63.18:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.9,35.2:0,0:0,0:35,36:115,115:32,16:-,NM_003128.2(SPTBN1) c.6047-117C>T:-,0.44:-,NOT_FOUND 2 54885184 . G . . NT END=54886290;NT GT ./. 2 54885314 rs2941586 A T 127 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.2594,T/0.7406;PC=0.002;Gene=SPTBN1/NM_003128.2/1;CC=c.6243+131A>T;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.6204+131A>T;VC=Intron;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:0:0:0:35:1107:127.34:0.00:127.34:1.00:0.00:1.00:60:50.9:0:0:98:52:32:NM_003128.2(SPTBN1) c.6243+131A>T,NM_003128.2(SPTBN1) c.6243+131A>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 54885370 rs17416284 A T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.748,T/0.252;Gene=SPTBN1/NM_003128.2/1;CC=c.6243+187A>T;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.6204+187A>T;VC=Intron;DM=SPTBN1/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,C,T:20:0:0:0:13,1,6:348,11,201:0.00,0.14,17.82:0.00,0.00,0.00:0.00,0.14,17.82:0.00,0.00,0.94:0.00,0.00,0.00:0.00,0.00,0.94:60,60,60:42.7,43.0,60.5:0,0,0:0,0,0:121,55,71:29,93,79:16,0,20:-,NM_003128.2(SPTBN1) c.6243+187A>T:-,0.28:-,NOT_FOUND 2 54886347 rs1052820 G A 133 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.7218,A/0.2782,T/.;PC=0.082;Gene=SPTBN1/NM_003128.2/1;CC=c.6300G>A;ProtCh=p.P2100=;VC=Silent;Gene=SPTBN1/NM_178313.2/0;CC=c.6261G>A;ProtCh=p.P2087=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:118:87:0:0:45,72,1:1450,2349,13:132.65,0.00,-0.09:61.81,0.00,0.04:70.84,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.8,9.0,202.0:0,0,0:0,0,0:85,67,131:64,75,19:27,23,0:NM_003128.2(SPTBN1) c.6300G>A (p.(=)),-:0.3,-:0.27595,- 2 54886404 . G . . NT END=54887072;NT GT ./. 2 54886741 rs56115900 G GT 7 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6649,GT/0.3075;DB;DBA=NA;PAF=G/0.6649,GT/0.3075;DB;DBA=NA;PAF=G/0.6649,A/0.02756;Gene=SPTBN1/NM_003128.2/1;CC=c.6357-326dupT;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.6318-326dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:G,GT:7:7:3:0:4,3:127,73:0.00,6.65:0.00,6.65:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,96.0:0,0:0,0:40,23:111,128:11,10:-,NM_003128.2(SPTBN1) c.6357-332_6357-331insT:-,0.31:-,NOT_FOUND 2 54888497 rs2941587 C T 415 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.2462,T/0.7538;PC=1.000;Gene=SPTBN1/NM_003128.2/1;CC=c.6420+1361C>T;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.*1274C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:113:71:0:0:113:3616:415.43:196.76:218.66:1.00:1.00:1.00:60:61.9:0:0:69:81:31:NM_003128.2(SPTBN1) c.6420+1361C>T,NM_003128.2(SPTBN1) c.6420+1361C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 54888533 rs2971879 T C 414 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=T/0.2452,C/0.7548;PC=1.000;Gene=SPTBN1/NM_003128.2/1;CC=c.6420+1397T>C;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.*1310T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:112:65:0:0:111,1:3628,8:414.02,0.00:182.24,0.00:231.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.2,33.0:0,0:0,0:75,143:72,7:27,0:NM_003128.2(SPTBN1) c.6420+1397T>C,NM_003128.2(SPTBN1) c.6420+1397T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 2 54888778 rs2971878 T C 204 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.8281,C/0.1719;PC=0.006;Gene=SPTBN1/NM_003128.2/1;CC=c.6420+1642T>C;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.*1555T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:104:68:0:0:64,40:2036,1345:203.93,0.00:101.71,0.00:102.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,6.5:0,0:0,0:73,64:78,86:36,32:NM_003128.2(SPTBN1) c.6420+1642T>C,-:0.17,-:NOT_FOUND,- 2 54889015 rs1047465 A G 162 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.8642,G/0.1358;PC=0.341;Gene=SPTBN1/NM_003128.2/1;CC=c.6420+1879A>G;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.*1792A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:60:0:0:51,53:1610,1685:0.00,162.40:0.00,67.58:0.00,94.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,49.9:0,0:0,0:77,80:73,69:38,36:-,NM_003128.2(SPTBN1) c.6420+1879A>G:-,0.14:-,NOT_FOUND 2 54889136 rs2971877 G A 427 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.2602,A/0.7398;PC=1.000;Gene=SPTBN1/NM_003128.2/1;CC=c.6420+2000G>A;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.*1913G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:120:90:0:0:119,1:3706,11:426.62,0.10:276.04,0.10:150.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.4,11.0:0,0:0,0:55,64:95,87:31,0:NM_003128.2(SPTBN1) c.6420+2000G>A,NM_003128.2(SPTBN1) c.6420+2000G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 54889390 rs1047499 C T 460 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=C/0.2466,T/0.7534;PC=1.000;Gene=SPTBN1/NM_003128.2/1;CC=c.6421-2200C>T;VC=Intron;Gene=SPTBN1/NM_178313.2/0;CC=c.*2167C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:125:60:0:0:125:4005:459.99:146.35:313.64:1.00:1.00:1.00:60:41.2:0:0:80:65:32:NM_003128.2(SPTBN1) c.6421-2200C>T,NM_003128.2(SPTBN1) c.6421-2200C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 54889446 . T . . NT END=54891589;NT GT ./. 2 54891829 . G . . NT END=54893051;NT GT ./. 2 54892800 rs2292356 G A 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.27,A/0.73;Gene=SPTBN1/NM_003128.2/1;CC=c.6660-252G>A;VC=Intron;DM=SPTBN1/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:178:20.62:20.62:0.00:1.00:1.00:0.00:60:92.5:0:0:32:105:13:NM_003128.2(SPTBN1) c.6660-252G>A,NM_003128.2(SPTBN1) c.6660-252G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 54892805 rs2292357 G A 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4038,A/0.5962;Gene=SPTBN1/NM_003128.2/1;CC=c.6660-247G>A;VC=Intron;DM=SPTBN1/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:190:21.86:21.86:0.00:1.00:1.00:0.00:60:92.5:0:0:37:100:13:NM_003128.2(SPTBN1) c.6660-247G>A,NM_003128.2(SPTBN1) c.6660-247G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 54893226 . G . . NT END=54894740;NT GT ./. 2 54893237 rs3817163 C T 153 nt VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.7506,T/0.2494;Gene=SPTBN1/NM_003128.2/1;CC=c.6833+12C>T;VC=Intron;DM=SPTBN1/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:83:31:0:0:34,1,48:1025,8,1545:0.00,-0.11,153.25:0.00,-0.06,35.72:0.00,-0.05,117.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.8,30.0,43.3:0,0,0:0,0,0:101,1,71:45,150,80:32,0,36:-,NM_003128.2(SPTBN1) c.6833+12C>T:-,0.28:-,0.243734 2 54894649 rs907136 G A 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.865,A/0.135;Gene=SPTBN1/NM_003128.2/1;CC=c.6834-92G>A;VC=Intron;DM=SPTBN1/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,G,T:16:15:0:0:10,5,1:312,165,10:31.80,0.00,0.28:25.29,0.00,0.32:6.51,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.4,0.0,142.0:0,0,0:0,0,0:25,15,115:120,133,36:21,11,0:NM_003128.2(SPTBN1) c.6834-92G>A,-:0.13,-:NOT_FOUND,- 2 54894784 . G . . NT END=54895487;NT GT ./. 2 54895707 . A . . NT END=54952198;NT GT ./. 2 54951888 rs354241 C A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.763,A/0.237 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,C:4:4:0:0:3,1:103,11:10.79,0.00:10.79,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:43.0,107.0:0,0:0,0:44,21:107,130:23,0:NM_001039753.2(EML6) c.-50-u261C>A,-:0.27,-:NOT_FOUND,- 2 54952396 . G . . NT END=55040368;NT GT ./. 2 55040204 rs17345285 C T 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8482,T/0.1518;PC=0.066;Gene=EML6/NM_001039753.2/1;CC=c.198-165C>T;VC=Intron;DM=EML6/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:8:8:0:0:2,6:69,196:0.00,20.51:0.00,20.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.0,42.0:0,0:0,0:48,62:98,87:36,21:-,NM_001039753.2(EML6) c.198-165C>T:-,0.17:-,NOT_FOUND 2 55040426 rs2631840 A G 214 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.2137,G/0.7863;Gene=EML6/NM_001039753.2/1;CC=c.255A>G;ProtCh=p.P85=;VC=Silent;DM=EML6/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:49:0:0:59:1859:214.02:134.45:79.56:1.00:1.00:1.00:60:36.3:0:0:60:91:34:NM_001039753.2(EML6) c.255A>G (p.(=)),NM_001039753.2(EML6) c.255A>G (p.(=)):0.81,0.81:NOT_FOUND,NOT_FOUND 2 55040529 . G . . NT END=55043923;NT GT ./. 2 55044023 . G . . NT END=55047530;NT GT ./. 2 55047600 . G . . NT END=55054702;NT GT ./. 2 55054889 . G . . NT END=55056478;NT GT ./. 2 55056615 . G . . NT END=55071183;NT GT ./. 2 55070981 rs144022085 CAA C 9 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CAA/0.3828,C/0.6172;NP=2;PC=0.006;Gene=EML6/NM_001039753.2/1;CC=c.848-185_848-184delAA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:CAA,C:9:12:0:6:6,3:186,198:0.00,9.08:0.00,9.14:0.00,-0.06:0.00,0.59:0.00,0.59:0.00,0.50:60,60:29.8,47.3:0,3:0,0:74,65:51,85:30,40:-,NM_001039753.2(EML6) c.848-202_848-201delAA:-,NOT_FOUND:-,NOT_FOUND 2 55071101 rs72020199 TTG T,TTGTGTGTGTG 28 idl,nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=75;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:80:TTG,TTGTGTGTGTG,T:27:26:8:15:8,8,11:158,238,418:0.00,21.90,27.88:0.00,19.11,16.18:0.00,2.79,11.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.95:60,60,70:40.6,35.8,39.5:0,0,4:0,0,0:109,36,26:37,112,123:9,17,12:NM_001039753.2(EML6) c.848-82_848-81delTG,NM_001039753.2(EML6) c.848-82TG[5]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 55071386 . G . . NT END=55074622;NT GT ./. 2 55074429 rs12465327 C A 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.523,A/0.477;PC=0.018;Gene=EML6/NM_001039753.2/1;CC=c.1050-194C>A;VC=Intron;DM=EML6/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:A,C:16:16:0:0:12,4:334,138:35.10,0.00:35.10,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:53.6,0.0:0,0:0,0:63,33:87,117:44,21:NM_001039753.2(EML6) c.1050-194C>A,-:0.46,-:NOT_FOUND,- 2 55074761 . G . . NT END=55077098;NT GT ./. 2 55075661 rs70944191 T TACAC 15 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;Gene=EML6/NM_001039753.2/1;CC=c.1187+928_1187+929insCACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TACAC:4:4:5:0:4:168:14.92:9.45:5.47:0.96:1.00:0.97:60:0.0:1:0:55:96:26:NM_001039753.2(EML6) c.1187+901_1187+902insACAC,NM_001039753.2(EML6) c.1187+901_1187+902insACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 55076857 rs7559919 C T 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7256,T/0.2744;PC=0.002;Gene=EML6/NM_001039753.2/1;CC=c.1188-242C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:5:5:0:0:2,3:66,101:0.00,10.07:0.00,10.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:57.5,69.7:0,0:0,0:12,56:138,95:1,3:-,NM_001039753.2(EML6) c.1188-242C>T:-,0.26:-,NOT_FOUND 2 55076869 rs7574117 T C 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.609,C/0.391;Gene=EML6/NM_001039753.2/1;CC=c.1188-230T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:5:5:0:0:3,2:108,63:10.77,0.00:10.77,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:69.7,57.5:0,0:0,0:68,24:83,126:3,1:NM_001039753.2(EML6) c.1188-230T>C,-:0.4,-:NOT_FOUND,- 2 55077061 rs12713278 A G 45 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.6074,G/0.3926;Gene=EML6/NM_001039753.2/1;CC=c.1188-38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:34:0:0:21,15:674,482:0.00,44.73:0.00,40.77:0.00,3.96:0.00,1.00:0.00,1.00:0.00,0.98:60,60:15.8,35.4:0,0:0,0:84,32:66,118:36,19:-,NM_001039753.2(EML6) c.1188-38A>G:-,0.41:-,0.467763 2 55077356 . G . . NT END=55080779;NT GT ./. 2 55077579 rs12713279 G A 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2584,A/0.7416;Gene=EML6/NM_001039753.2/1;CC=c.1444+224G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:208:24.08:0.00:24.08:1.00:0.00:1.00:60:51.3:0:0:65:86:38:NM_001039753.2(EML6) c.1444+224G>A,NM_001039753.2(EML6) c.1444+224G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 55080588 rs5831325 TA T 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TA/0.2504,T/0.7496;DB;DBA=NA;PAF=TA/0.2504,T/0.7496;NP=14;Gene=EML6/NM_001039753.2/1;CC=c.1445-190delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:14.8:0:0:75:75:36:NM_001039753.2(EML6) c.1445-191delA,NM_001039753.2(EML6) c.1445-191delA:0.71,0.71:NOT_FOUND,NOT_FOUND 2 55080611 rs5831326 GCTTT G 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GCTTT/0.9321,G/0.06789;NP=44;PC=0.002;Gene=EML6/NM_001039753.2/1;CC=c.1445-164_1445-161delCTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:GCTTT,G:6:6:0:3:3,3:101,99:0.00,9.52:0.00,9.52:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:19.7,0.0:0,0:0,0:131,21:19,130:8,4:-,NM_001039753.2(EML6) c.1445-168_1445-165delCTTT:-,0.05:-,NOT_FOUND 2 55080623 rs12991420 C T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.745,T/0.255;Gene=EML6/NM_001039753.2/1;CC=c.1445-157C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:7:7:0:0:4,3:117,87:0.00,8.06:0.00,8.06:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:25.8,40.7:3,0:0,0:27,75:124,76:14,68:-,NM_001039753.2(EML6) c.1445-157C>T:-,0.25:-,NOT_FOUND 2 55080703 rs35619447 A C 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7474,C/0.2526;Gene=EML6/NM_001039753.2/1;CC=c.1445-77A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:27:26:0:0:11,16:340,485:0.00,48.15:0.00,41.65:0.00,6.50:0.00,1.00:0.00,1.00:0.00,0.94:60,60:10.4,46.4:0,0:0,0:46,28:102,123:33,17:-,NM_001039753.2(EML6) c.1445-77A>C:-,0.25:-,NOT_FOUND 2 55080993 . G . . NT END=55086670;NT GT ./. 2 55081115 rs145092548 T C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9876,C/0.01238;PC=0.002;Gene=EML6/NM_001039753.2/1;CC=c.1657+123T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:9,8:313,262:30.49,0.00:0.00,0.00:30.49,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.0,12.6:0,0:0,0:97,106:53,44:12,24:NM_001039753.2(EML6) c.1657+123T>C,-:0.01,-:NOT_FOUND,- 2 55086518 rs79466642 G A 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9339,A/0.06609;Gene=EML6/NM_001039753.2/1;CC=c.1658-153G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,G:16:16:0:0:11,5:320,159:32.90,0.00:32.90,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.7,10.8:0,0:0,0:46,21:105,130:29,4:NM_001039753.2(EML6) c.1658-153G>A,-:0.05,-:NOT_FOUND,- 2 55086839 . G . . NT END=55090919;NT GT ./. 2 55086992 rs12052579 G A 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9357,A/0.0643;Gene=EML6/NM_001039753.2/1;CC=c.1825+154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,G:13:0:0:0:6,7:149,235:13.80,0.00:0.00,0.00:13.80,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:42.7,5.0:0,0:0,0:136,88:12,63:5,39:NM_001039753.2(EML6) c.1825+154G>A,-:0.05,-:NOT_FOUND,- 2 55091027 . G . . NT END=55093902;NT GT ./. 2 55093842 rs1961245 G A 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4659,A/0.5341;Gene=EML6/NM_001039753.2/1;CC=c.1933-61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:22:0:0:14,9:434,286:43.34,0.00:40.18,0.00:3.15,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:32.6,20.3:0,0:0,0:92,21:58,129:15,17:NM_001039753.2(EML6) c.1933-61G>A,-:0.49,-:NOT_FOUND,- 2 55094022 . G . . NT END=55096317;NT GT ./. 2 55096505 . G . . NT END=55098636;NT GT ./. 2 55098743 . G . . NT END=55106683;NT GT ./. 2 55106778 . G . . NT END=55118190;NT GT ./. 2 55118292 . G . . NT END=55119590;NT GT ./. 2 55119794 . G . . NT END=55122051;NT GT ./. 2 55121930 rs998230 C G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5473,G/0.4527;Gene=EML6/NM_001039753.2/1;CC=c.2743-122C>G;VC=Intron;DM=EML6/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:18:0:0:7,11:244,371:0.00,37.12:0.00,37.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.3,65.5:0,0:0,0:60,59:91,92:22,22:-,NM_001039753.2(EML6) c.2743-122C>G:-,0.49:-,NOT_FOUND 2 55121996 rs2165007 G C 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9579,C/0.04213;PC=0.003;Gene=EML6/NM_001039753.2/1;CC=c.2743-56G>C;VC=Intron;DM=EML6/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:36:35:0:0:16,20:517,693:48.58,0.00:37.74,0.00:10.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.9,1.6:0,0:0,0:28,48:121,102:19,26:NM_001039753.2(EML6) c.2743-56G>C,-:0.05,-:NOT_FOUND,- 2 55122164 . G . . NT END=55122409;NT GT ./. 2 55122538 . G . . NT END=55126777;NT GT ./. 2 55126920 . G . . NT END=55130180;NT GT ./. 2 55130334 . G . . NT END=55130507;NT GT ./. 2 55130640 . G . . NT END=55138090;NT GT ./. 2 55137953 rs67721747 T C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9267,C/0.07328;PC=0.001;Gene=EML6/NM_001039753.2/1;CC=c.3410-138T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:12:12:0:0:4,8:131,252:11.70,0.00:10.05,0.00:1.65,0.00:0.80,0.00:0.80,0.00:0.56,0.00:60,60:32.8,7.9:0,0:0,0:43,22:102,128:29,11:NM_001039753.2(EML6) c.3410-138T>C,-:0.06,-:NOT_FOUND,- 2 55138180 . G . . NT END=55143895;NT GT ./. 2 55138272 rs2304688 G A 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4748,A/0.5252;Gene=EML6/NM_001039753.2/1;CC=c.3498+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:9:0:0:0:6,3:200,92:20.38,0.00:0.00,0.00:20.38,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:49.7,9.3:0,0:0,0:120,126:30,25:11,2:NM_001039753.2(EML6) c.3498+93G>A,-:0.47,-:NOT_FOUND,- 2 55138302 rs2304686 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.484,A/0.516;Gene=EML6/NM_001039753.2/1;CC=c.3498+123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:5:0:0:0:4,1:132,32:14.02,0.00:0.00,0.00:14.02,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:65.8,28.0:0,0:0,0:112,62:37,89:24,0:NM_001039753.2(EML6) c.3498+123G>A,-:0.47,-:NOT_FOUND,- 2 55144073 . G . . NT END=55155449;NT GT ./. 2 55144103 rs2304685 C G 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.9197,G/0.08027;PC=0.126;Gene=EML6/NM_001039753.2/1;CC=c.3675+31C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:39:11:0:0:17,22:568,686:0.00,67.47:0.00,6.60:0.00,60.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.1,34.8:0,0:0,0:110,118:41,33:22,22:-,NM_001039753.2(EML6) c.3675+31C>G:-,0.07:-,0.071178 2 55144109 . C G 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;NP=1;Gene=EML6/NM_001039753.2/1;CC=c.3675+37C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:11:0:0:22,19:722,578:0.00,54.53:0.00,18.57:0.00,35.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.5,34.8:0,0:0,0:114,116:35,35:28,25:-,NM_001039753.2(EML6) c.3675+37C>G:-,NOT_FOUND:-,NOT_FOUND 2 55155652 . G . . NT END=55155761;NT GT ./. 2 55155889 . G . . NT END=55176018;NT GT ./. 2 55156163 rs398080274 GA G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GA/0.5349,G/0.4651;DB;DBA=NA;PAF=GA/0.5349,G/0.4651;NP=16;PC=0.001;Gene=EML6/NM_001039753.2/1;CC=c.4004+282delA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GA,G:4:0:0:3:1,3:35,97:0.00,10.15:0.00,0.00:0.00,10.15:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,20.7:0,0:0,0:95,134:56,17:0,5:-,NM_001039753.2(EML6) c.4004+276delA:-,0.42:-,NOT_FOUND 2 55176098 . G . . NT END=55177786;NT GT ./. 2 55177810 rs190613764 T C 109 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=7;PC=1.000;Gene=EML6/NM_001039753.2/1;CC=c.4107T>C;ProtCh=p.F1369=;VC=Silent;DM=EML6/HELP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:86:62:0:0:36,50:1173,1637:109.09,0.00:62.76,0.00:46.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,13.9:0,0:0,0:72,73:78,70:39,36:NM_001039753.2(EML6) c.4107T>C (p.(=)),-:0.0014,-:0.004599,- 2 55177917 . G . . NT END=55179730;NT GT ./. 2 55179830 . G . . NT END=55181119;NT GT ./. 2 55180965 rs4671998 G A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.07388,A/0.9261;PC=0.004;Gene=EML6/NM_001039753.2/1;CC=c.4313-155G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,G:9:9:0:0:4,5:128,134:12.03,0.00:12.03,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:56.8,5.6:0,0:0,0:48,43:103,83:28,29:NM_001039753.2(EML6) c.4313-155G>A,-:0.94,-:NOT_FOUND,- 2 55181022 rs34371058 T TA 11 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=2;PC=0.751;Gene=EML6/NM_001039753.2/1;CC=c.4313-81_4313-80insA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:G,T,TA,D:18:22:6:4:1,11,4,2:5,374,184,116:-0.12,0.00,10.79,4.22:-0.11,0.00,10.83,4.24:-0.01,0.00,-0.04,-0.02:0.00,0.00,0.70,0.00:0.00,0.00,0.70,0.00:0.00,0.00,0.46,0.00:60,60,60,60:14.0,67.0,112.2,95.0:0,0,2,2:0,0,0,0:81,24,40,24:26,127,102,117:0,23,15,8:-,NM_001039753.2(EML6) c.4313-98_4313-97insA:-,NOT_FOUND:-,NOT_FOUND 2 55181294 . G . . NT END=55184926;NT GT ./. 2 55181351 rs4671999 T C 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4934,C/0.5066;PC=0.449;Gene=EML6/NM_001039753.2/1;CC=c.4486+58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:7:0:0:13,19:391,626:35.87,0.00:6.27,0.00:29.60,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:61.2,7.9:0,0:0,0:101,115:50,33:29,27:NM_001039753.2(EML6) c.4486+58T>C,-:0.59,-:NOT_FOUND,- 2 55181382 rs4672001 G A 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4942,A/0.5058;Gene=EML6/NM_001039753.2/1;CC=c.4486+89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:4:0:0:10,12:307,372:28.89,0.00:3.14,0.00:25.75,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:69.4,12.5:0,0:0,0:111,98:39,52:22,38:NM_001039753.2(EML6) c.4486+89G>A,-:0.59,-:NOT_FOUND,- 2 55185136 . G . . NT END=55186240;NT GT ./. 2 55186399 . G . . NT END=55187355;NT GT ./. 2 55187297 rs58866010 A AG 110 nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=914;PC=0.001;Gene=EML6/NM_001039753.2/1;CC=c.4854-55dupG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A,AG:36:33:34:0:2,34:26,974:0.00,110.43:0.00,92.37:0.00,18.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,19.5:0,0:0,0:143,30:5,121:1,24:NM_001039753.2(EML6) c.4854-59_4854-58insG,NM_001039753.2(EML6) c.4854-59_4854-58insG:1,1:NOT_FOUND,NOT_FOUND 2 55187471 . G . . NT END=55189658;NT GT ./. 2 55189438 rs6745543 G A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6851,A/0.3149;Gene=EML6/NM_001039753.2/1;CC=c.4969-221G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,G:7:7:0:0:5,2:167,58:17.27,0.00:17.27,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:40.0,4.5:0,0:0,0:16,88:135,61:8,57:NM_001039753.2(EML6) c.4969-221G>A,-:0.26,-:NOT_FOUND,- 2 55189848 . G . . NT END=55191121;NT GT ./. 2 55189869 rs34564860 C T 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.9663,A/.,T/0.03375;Gene=EML6/NM_001039753.2/1;CC=c.5157+22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:19:0:0:28,24:921,732:0.00,69.03:0.00,14.69:0.00,54.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,44.2:0,0:0,0:106,106:45,37:27,26:-,NM_001039753.2(EML6) c.5157+22C>T:-,0.03:-,0.056724 2 55191295 . G . . NT END=55191706;NT GT ./. 2 55191870 . G . . NT END=55194135;NT GT ./. 2 55194240 . G . . NT END=55195263;NT GT ./. 2 55195069 rs148372431 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9828,T/0.01717;PC=0.006;Gene=EML6/NM_001039753.2/1;CC=c.5598-195C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:C,T:10:10:0:0:4,6:113,203:0.00,20.25:0.00,20.25:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:5.0,53.7:0,0:0,0:73,17:78,133:17,12:-,NM_001039753.2(EML6) c.5598-195C>T:-,0.02:-,NOT_FOUND 2 55195418 . G . . NT END=55195803;NT GT ./. 2 55195768 rs114778157 G C 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9832,C/0.01677;Gene=EML6/NM_001039753.2/1;CC=c.5752-36G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:21:0:0:15,9:514,290:51.66,0.00:38.67,0.00:12.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,8.0:0,0:0,0:32,48:114,103:19,25:NM_001039753.2(EML6) c.5752-36G>C,-:0.01,-:0.022339,- 2 55195905 . G . . NT END=55197206;NT GT ./. 2 55197232 . A . . NT END=55200291;NT GT ./. 2 55200335 . C . . NT END=55200698;NT GT ./. 2 55200758 . C . . NT END=55200956;NT GT ./. 2 55201004 . C . . NT END=55201830;NT GT ./. 2 55201038 rs2255026 C T 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.1821,T/0.8179;Gene=RTN4/NM_007008.2/0;CC=c.452-35G>A;VC=Intron;Gene=RTN4/NM_207521.1/0;CC=c.2813-35G>A;VC=Intron;Gene=RTN4/NM_020532.4/1;CC=c.3431-35G>A;VC=Intron;Gene=RTN4/NM_153828.2/0;CC=c.974-35G>A;VC=Intron;Gene=RTN4/NM_207520.1/0;CC=c.1031-35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:12:0:0:9,20:288,668:0.00,68.54:0.00,15.75:0.00,52.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,36.8:0,0:0,0:111,109:39,39:17,32:-,NM_020532.4(RTN4) c.3431-35G>A:-,0.84:-,0.879594 2 55201901 . C . . NT END=55209650;NT GT ./. 2 55209790 . C . . NT END=55214626;NT GT ./. 2 55214618 rs2580769 A C 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.394,C/0.606;PC=0.989;Gene=RTN4/NM_007008.2/0;CC=c.242+9T>G;VC=Intron;Gene=RTN4/NM_207521.1/0;CC=c.2603+9T>G;VC=Intron;Gene=RTN4/NM_020532.4/1;CC=c.3221+9T>G;VC=Intron;Gene=RTN4/NM_153828.2/0;CC=c.764+9T>G;VC=Intron;Gene=RTN4/NM_207520.1/0;CC=c.821+9T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:29:0:0:21,10:628,327:0.00,29.00:0.00,24.34:0.00,4.66:0.00,1.00:0.00,1.00:0.00,0.95:60,60:14.3,36.2:0,0:0,0:37,80:96,69:30,15:-,NM_020532.4(RTN4) c.3221+9T>G:-,0.67:-,0.670152 2 55214835 . C . . NT END=55237222;NT GT ./. 2 55214912 rs2580770 C G 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.1831,G/0.8169;PC=0.043;Gene=RTN4/NM_007008.2/0;CC=c.35-78G>C;VC=Intron;Gene=RTN4/NM_207521.1/0;CC=c.2396-78G>C;VC=Intron;Gene=RTN4/NM_020532.4/1;CC=c.3014-78G>C;VC=Intron;Gene=RTN4/NM_153828.2/0;CC=c.557-78G>C;VC=Intron;Gene=RTN4/NM_207520.1/0;CC=c.614-78G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,G:26:3:0:0:20,6:548,175:0.00,14.30:0.00,-0.17:0.00,14.47:0.00,0.91:0.00,0.58:0.00,0.91:60,60:15.2,38.0:0,0:0,0:88,78:62,72:46,29:-,NM_020532.4(RTN4) c.3014-78G>C:-,0.84:-,NOT_FOUND 2 55237049 rs17046589 T G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7999,G/0.2001;PC=0.704;Gene=RTN4/NM_007008.2/0;CC=c.34+174A>C;VC=Intron;Gene=RTN4/NM_207521.1/0;CC=c.2395+15173A>C;VC=Intron;Gene=RTN4/NM_020532.4/1;CC=c.3013+15173A>C;VC=Intron;Gene=RTN4/NM_153828.2/0;CC=c.557-22215A>C;VC=Intron;Gene=RTN4/NM_207520.1/0;CC=c.613+18251A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:G,T:11:11:0:0:5,6:154,171:14.49,0.00:14.49,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:61.0,0.0:0,0:0,0:28,27:122,123:21,18:NM_020532.4(RTN4) c.3013+15173A>C,-:0.18,-:NOT_FOUND,- 2 55237471 . A . . NT END=55252221;NT GT ./. 2 55252214 rs13401937 T G 102 nt VT=SNV;PN=T;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.8514,G/0.1486;PC=0.024;Gene=RTN4/NM_207521.1/0;CC=c.2395+8A>C;VC=Intron;Gene=RTN4/NM_020532.4/1;CC=c.3013+8A>C;VC=Intron;Gene=RTN4/NM_153828.2/0;CC=c.556+24667A>C;VC=Intron;Gene=RTN4/NM_207520.1/0;CC=c.613+3086A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:59:0:0:33,38:1077,1251:102.13,0.00:73.68,0.00:28.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,10.2:0,0:0,0:69,42:79,98:26,25:NM_020532.4(RTN4) c.3013+8A>C,-:0.1,-:0.150238,- 2 55254622 . C . . NT END=55255299;NT GT ./. 2 55254721 rs13002841 T C 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.9325,C/0.06749;PC=0.013;Gene=RTN4/NM_207521.1/0;CC=c.-5-100A>G;VC=Intron;Gene=RTN4/NM_020532.4/1;CC=c.614-100A>G;VC=Intron;Gene=RTN4/NM_153828.2/0;CC=c.556+22160A>G;VC=Intron;Gene=RTN4/NM_207520.1/0;CC=c.613+579A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:9:0:0:14,18:389,584:36.04,0.00:10.78,0.00:25.26,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:38.2,11.9:0,0:0,0:119,111:23,39:19,17:NM_020532.4(RTN4) c.614-100A>G,-:0.06,-:NOT_FOUND,- 2 55255357 . C . . NT END=55276214;NT GT ./. 2 55276327 . A . . NT END=55276880;NT GT ./. 2 55277437 . G . . NT END=55402925;NT GT ./. 2 55304892 rs70947005 T TACACACACAC 17 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=10;NP=4;NP=4;PC=0.001;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TACACACACAC:7:8:7:0:2,5:68,232:0.00,16.80:0.00,13.46:0.00,3.35:0.00,0.96:0.00,1.00:0.00,0.84:60,70:33.5,35.8:1,2:0,0:75,73:61,77:23,16:-,chr2 g.55304892_55304893insACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 55403123 . C . . NT END=55404737;NT GT ./. 2 55403284 rs546681308 C CTCA 9 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7732,CTCA/0.2268;DB;DBA=NA;PAF=C/0.7732,CTCA/0.2268;DB;DBA=NA;PAF=NA;NP=166;NP=4;Gene=CLHC1/NM_152385.2/1;CC=c.1565-165_1565-163dupTGA;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.1199-165_1199-163dupTGA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,CTCA:10:0:3:0:7,3:242,99:0.00,8.68:0.00,0.00:0.00,8.68:0.00,0.62:0.00,0.00:0.00,0.62:60,60:3.9,0.0:0,0:0,0:120,122:30,28:28,9:-,NM_152385.2(CLHC1) c.1565-163_1565-162insTGA:-,0.21:-,NOT_FOUND 2 55404918 . C . . NT END=55407645;NT GT ./. 2 55404925 rs6545477 C T 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8005,T/0.1995;PC=0.194;Gene=CLHC1/NM_152385.2/1;CC=c.1385-8G>A;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.1019-8G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:14:0:0:21,18:690,571:0.00,54.01:0.00,10.66:0.00,43.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.9,39.2:0,0:0,0:94,103:54,44:26,31:-,NM_152385.2(CLHC1) c.1385-8G>A:-,0.2:-,0.265954 2 55405037 rs75442422 T A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8568,A/0.1432;Gene=CLHC1/NM_152385.2/1;CC=c.1385-120A>T;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.1019-120A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,T:8:0:0:0:3,5:93,145:8.44,0.00:0.00,0.00:8.44,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:37.0,11.2:0,0:0,0:130,91:21,57:20,14:NM_152385.2(CLHC1) c.1385-120A>T,-:0.13,-:NOT_FOUND,- 2 55407459 rs6715694 C T 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.05232,T/0.9477;Gene=CLHC1/NM_152385.2/1;CC=c.1384+187G>A;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.1018+187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:269:30.72:30.72:0.00:1.00:1.00:0.00:60:42.9:0:0:30:115:19:NM_152385.2(CLHC1) c.1384+187G>A,NM_152385.2(CLHC1) c.1384+187G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 55407754 rs6716066 C T 241 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.03494,T/0.9651;PC=0.961;Gene=CLHC1/NM_152385.2/1;CC=c.1276G>A;ProtCh=p.V426I;VC=Missense;Gene=CLHC1/NM_001135598.1/0;CC=c.910G>A;ProtCh=p.V304I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:T:66:42:0:0:66:2092:240.51:109.10:131.41:1.00:1.00:1.00:60:37.8:0:0:75:61:39:NM_152385.2(CLHC1) c.1276G>A (p.Val426Ile),NM_152385.2(CLHC1) c.1276G>A (p.Val426Ile):0.97,0.97:0.982854,0.982854 2 55407849 . C . . NT END=55408705;NT GT ./. 2 55407935 rs10183953 G A 81 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.0619,A/0.9381;Gene=CLHC1/NM_152385.2/1;CC=c.1182-87C>T;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.816-87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:A,C:24:6:0:0:23,1:703,13:80.71,0.52:11.37,0.52:69.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,21.0:0,0:0,0:119,144:32,7:19,0:NM_152385.2(CLHC1) c.1182-87C>T,NM_152385.2(CLHC1) c.1182-87C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 55408881 . C . . NT END=55433405;NT GT ./. 2 55412095 rs537130476 CACAA C 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=22;PC=0.001;Gene=CLHC1/NM_152385.2/1;CC=c.1007-3219_1007-3216delTTGT;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.641-3219_641-3216delTTGT;VC=Intron;DM=CLHC1/Clathrin_H_link;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CACAA,C:4:3:0:4:1,3:11,88:0.00,9.29:0.00,2.48:0.00,6.80:0.00,0.85:0.00,0.99:0.00,0.99:60,70:0.0,26.7:0,0:0,0:125,73:2,45:0,32:-,NM_152385.2(CLHC1) c.1007-3219_1007-3216delTTGT:-,NOT_FOUND:-,NOT_FOUND 2 55433513 . C . . NT END=55435761;NT GT ./. 2 55435565 rs13420684 A C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7075,C/0.2925;PC=0.003;Gene=CLHC1/NM_152385.2/1;CC=c.899+197T>G;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.533+197T>G;VC=Intron;DM=CLHC1/Clathrin_H_link GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:145:16.84:16.84:0.00:1.00:1.00:0.00:60:29.0:0:0:42:108:17:NM_152385.2(CLHC1) c.899+197T>G,NM_152385.2(CLHC1) c.899+197T>G:0.28,0.28:NOT_FOUND,NOT_FOUND 2 55435847 . C . . NT END=55436539;NT GT ./. 2 55436002 rs10189758 T C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=43;Gene=CLHC1/NM_152385.2/1;CC=c.815-156A>G;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.449-156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:7:0:0:2:4,3:102,44:10.05,0.00:0.00,0.00:10.05,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:60.8,87.0:0,1:0,0:136,72:14,79:11,27:NM_152385.2(CLHC1) c.815-156A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 55436488 rs139842520 GA G 38 rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=GA/0.7041,G/0.2959;NP=1567;PC=0.002;Gene=CLHC1/NM_152385.2/1;CC=c.814+51delT;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.448+51delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:23:23:0:12:11,12:334,395:0.00,38.31:0.00,33.02:0.00,5.29:0.00,1.00:0.00,1.00:0.00,0.90:60,60:5.5,1.0:0,0:0,0:60,53:91,97:46,30:-,NM_152385.2(CLHC1) c.814+51delT:-,NOT_FOUND:-,0.328472 2 55436653 . C . . NT END=55436765;NT GT ./. 2 55436934 rs9677948 G A 73 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7897,A/0.2103;PC=0.991;Gene=CLHC1/NM_152385.2/1;CC=c.533C>T;ProtCh=p.A178V;VC=Missense;Gene=CLHC1/NM_001135598.1/0;CC=c.167C>T;ProtCh=p.A56V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:59:20:0:0:26,1,32:779,11,1081:72.95,-0.04,0.00:21.99,-0.05,0.00:50.96,0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.2,85.0,1.6:0,0,0:0,0,0:69,18,93:82,132,53:32,0,33:NM_152385.2(CLHC1) c.533C>T (p.Ala178Val),-:0.21,-:0.266923,- 2 55436968 . C . . NT END=55439808;NT GT ./. 2 55437156 rs114585236 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9736,C/0.02636;PC=0.001;Gene=CLHC1/NM_152385.2/1;CC=c.500-189A>G;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.134-189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,T:7:0:0:0:3,4:105,132:9.86,0.00:0.00,0.00:9.86,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:35.0,1.8:0,0:0,0:118,132:31,18:0,5:NM_152385.2(CLHC1) c.500-189A>G,-:0.02,-:NOT_FOUND,- 2 55439667 rs6723870 C G 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.03474,G/0.9653;Gene=CLHC1/NM_152385.2/1;CC=c.499+142G>C;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.133+142G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:54.2:0:0:29:121:13:NM_152385.2(CLHC1) c.499+142G>C,NM_152385.2(CLHC1) c.499+142G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 55439943 . C . . NT END=55444946;NT GT ./. 2 55439963 rs2118283 C A 147 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.03514,A/0.9649;Gene=CLHC1/NM_152385.2/1;CC=c.366-21G>T;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.-1-21G>T;VC=Intron;DM=CLHC1/TSNAXIP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:19:0:0:39:1281:146.64:47.44:99.20:1.00:1.00:1.00:60:38.8:0:0:96:43:29:NM_152385.2(CLHC1) c.366-21G>T,NM_152385.2(CLHC1) c.366-21G>T:0.97,0.97:0.982154,0.982154 2 55445135 . C . . NT END=55449370;NT GT ./. 2 55445311 rs1437393 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7071,T/0.2929;Gene=CLHC1/NM_152385.2/1;CC=c.178-177G>A;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.-189-177G>A;VC=Intron;DM=CLHC1/TSNAXIP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:9:0:0:0:5,4:169,106:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.85:0.00,0.00:0.00,0.85:60,60:2.4,48.0:0,0:0,0:122,96:29,55:8,11:-,NM_152385.2(CLHC1) c.178-177G>A:-,0.28:-,NOT_FOUND 2 55449256 rs1437389 G A 44 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.0641,A/0.9359;Gene=CLHC1/NM_152385.2/1;CC=c.177+115C>T;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.-189-4122C>T;VC=Intron;DM=CLHC1/TSNAXIP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:12:0:0:12:378:43.50:43.50:0.00:1.00:1.00:0.00:60:56.7:0:0:54:96:23:NM_152385.2(CLHC1) c.177+115C>T,NM_152385.2(CLHC1) c.177+115C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 55449318 rs4435493 T C 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.772,C/0.228;Gene=CLHC1/NM_152385.2/1;CC=c.177+53A>G;VC=Intron;Gene=CLHC1/NM_001135598.1/0;CC=c.-189-4184A>G;VC=Intron;DM=CLHC1/TSNAXIP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:23:0:0:11,13:363,409:34.36,0.00:26.51,0.00:7.84,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:72.1,19.5:0,0:0,0:41,42:110,109:38,32:NM_152385.2(CLHC1) c.177+53A>G,-:0.22,-:NOT_FOUND,- 2 55449412 rs74785222 C A 63 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.9736,A/0.02636;PC=1.000;Gene=CLHC1/NM_152385.2/1;CC=c.136G>T;ProtCh=p.A46S;VC=Missense;Gene=CLHC1/NM_001135598.1/0;CC=c.-189-4278G>T;VC=Intron;DM=CLHC1/TSNAXIP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:40:33:0:0:20,20:651,703:62.60,0.00:37.00,0.00:25.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.7,3.0:0,0:0,0:48,69:102,79:27,23:NM_152385.2(CLHC1) c.136G>T (p.Ala46Ser),-:0.02,-:0.030755,- 2 55449464 rs17852670 T C 69 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.772,C/0.228;PC=1.000;Gene=CLHC1/NM_152385.2/1;CC=c.84A>G;ProtCh=p.Q28=;VC=Silent;Gene=CLHC1/NM_001135598.1/0;CC=c.-189-4330A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:50:35:0:0:1,22,27:7,736,875:-0.15,69.45,0.00:-0.04,37.16,0.00:-0.11,32.29,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:129.0,67.1,3.0:0,0,0:0,0,0:33,74,77:117,75,59:0,25,41:NM_152385.2(CLHC1) c.84A>G (p.(=)),-:0.22,-:0.193633,- 2 55449548 . A . . NT END=55459960;NT GT ./. 2 55460009 . G . . NT END=55460498;NT GT ./. 2 55460554 . G . . NT END=55461254;NT GT ./. 2 55460605 rs6737227 A T 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.2913,T/0.7087;Gene=RPS27A/NM_001135592.2/1;CC=c.103+52A>T;VC=Intron;Gene=RPS27A/NM_002954.5/0;CC=c.103+52A>T;VC=Intron;Gene=RPS27A/NM_001177413.1/0;CC=c.103+52A>T;VC=Intron;DM=RPS27A/ubiquitin;DM=RPS27A/ubiquitin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:8:0:0:8,9:262,273:0.00,26.46:0.00,9.23:0.00,17.22:0.00,1.00:0.00,0.99:0.00,1.00:60,60:0.0,31.7:0,0:0,0:90,103:60,48:19,24:-,NM_001135592.2(RPS27A) c.103+52A>T:-,0.71:-,NOT_FOUND 2 55460751 rs6545480 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2945,T/0.7055;Gene=RPS27A/NM_001135592.2/1;CC=c.103+198C>T;VC=Intron;Gene=RPS27A/NM_002954.5/0;CC=c.103+198C>T;VC=Intron;Gene=RPS27A/NM_001177413.1/0;CC=c.103+198C>T;VC=Intron;DM=RPS27A/ubiquitin;DM=RPS27A/ubiquitin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:7:0:0:0:3,4:81,133:0.00,13.13:0.00,0.00:0.00,13.13:0.00,0.90:0.00,0.00:0.00,0.90:60,60:2.7,41.5:0,0:0,0:117,97:34,53:6,4:-,NM_001135592.2(RPS27A) c.103+198C>T:-,0.73:-,NOT_FOUND 2 55461341 . G . . NT END=55461966;NT GT ./. 2 55461369 rs112330410 TA T 7 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=33;PC=0.002;Gene=RPS27A/NM_001135592.2/1;CC=c.189+39delA;VC=Intron;Gene=RPS27A/NM_002954.5/0;CC=c.189+39delA;VC=Intron;Gene=RPS27A/NM_001177413.1/0;CC=c.189+39delA;VC=Intron;Gene=MIR4426/NR_039624.1/0;VC=NonCoding;DM=RPS27A/ubiquitin;DM=RPS27A/ubiquitin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,TA,T:35:18:0:3:1,31,3:33,975,97:1.85,0.00,6.73:0.98,0.00,2.18:0.87,0.00,4.54:0.00,0.00,0.40:0.00,0.00,0.69:0.00,0.00,0.82:60,60,60:33.0,16.7,17.0:0,0,0:0,0,0:126,109,99:24,42,52:0,10,21:-,NM_001135592.2(RPS27A) c.189+30delA:-,0.02:-,0.018388 2 55461570 rs2576723 A T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.03834,G/.,T/0.9617;PC=0.001;Gene=RPS27A/NM_001135592.2/1;CC=c.189+230A>T;VC=Intron;Gene=RPS27A/NM_002954.5/0;CC=c.189+230A>T;VC=Intron;Gene=RPS27A/NM_001177413.1/0;CC=c.189+230A>T;VC=Intron;Gene=MIR4426/NR_039624.1/0;VC=NonCoding;DM=RPS27A/ubiquitin;DM=RPS27A/ubiquitin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:1:0:0:6:200:22.86:3.98:18.88:1.00:1.00:1.00:60:34.5:0:0:33:117:17:NM_001135592.2(RPS27A) c.189+230A>T,NM_001135592.2(RPS27A) c.189+230A>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 55461823 rs2576722 T A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.2145,A/0.7855;PC=0.001;Gene=RPS27A/NM_001135592.2/1;CC=c.190-144T>A;VC=Intron;Gene=RPS27A/NM_002954.5/0;CC=c.190-144T>A;VC=Intron;Gene=RPS27A/NM_001177413.1/0;CC=c.190-144T>A;VC=Intron;Gene=MIR4426/NR_039624.1/0;VC=NonCoding;DM=RPS27A/ubiquitin;DM=RPS27A/ubiquitin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:22:0:0:14,10:454,343:45.00,0.00:35.69,0.00:9.31,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:35.9,14.4:0,0:0,0:46,30:104,120:35,23:NM_001135592.2(RPS27A) c.190-144T>A,-:0.82,-:NOT_FOUND,- 2 55462099 . G . . NT END=55462563;NT GT ./. 2 55462714 . C . . NT END=55463783;NT GT ./. 2 55463576 rs56039135 A C 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.6689,C/0.3311 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,C:10:10:0:0:6,4:181,126:0.00,11.59:0.00,11.59:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:16.7,41.0:0,0:0,0:32,54:118,96:5,38:-,NM_152385.2(CLHC1) c.-346-u4127T>G:-,0.29:-,NOT_FOUND 2 55463957 . C . . NT END=55464423;NT GT ./. 2 55464565 . C . . NT END=55467146;NT GT ./. 2 55467312 . C . . NT END=55470075;NT GT ./. 2 55470115 rs11357 C T 62 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.3712,T/0.6288;PC=1.000;Gene=MTIF2/NM_001005369.1/1;CC=c.1666G>A;ProtCh=p.V556I;VC=Missense;Gene=MTIF2/NM_002453.2/0;CC=c.1666G>A;ProtCh=p.V556I;VC=Missense;DM=MTIF2/IF-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:38:0:0:33,21:1096,674:0.00,61.76:0.00,29.35:0.00,32.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,33.2:0,0:0,0:50,86:85,61:28,32:-,NM_001005369.1(MTIF2) c.1666G>A (p.Val556Ile):-,0.68:-,0.690278 2 55470217 . C . . NT END=55470551;NT GT ./. 2 55470805 . C . . NT END=55471164;NT GT ./. 2 55471370 . C . . NT END=55473472;NT GT ./. 2 55471382 rs61109509 T C 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.851,C/0.149;Gene=MTIF2/NM_001005369.1/1;CC=c.1107-13A>G;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.1107-13A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:10:0:0:22,21:746,637:72.20,0.00:11.18,0.00:61.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.1,28.5:0,0:0,0:83,97:67,53:38,34:NM_001005369.1(MTIF2) c.1107-13A>G,-:0.14,-:0.101217,- 2 55471407 rs2589083 T C 117 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.05791,C/0.9421;PC=0.088;Gene=MTIF2/NM_001005369.1/1;CC=c.1107-38A>G;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.1107-38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:C:34:8:0:0:34:1012:117.17:23.76:93.41:1.00:1.00:1.00:60:54.1:0:0:110:40:26:NM_001005369.1(MTIF2) c.1107-38A>G,NM_001005369.1(MTIF2) c.1107-38A>G:0.96,0.96:0.953728,0.953728 2 55473371 rs2576724 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6651,G/0.3349;PC=0.001;Gene=MTIF2/NM_001005369.1/1;CC=c.1106+102T>C;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.1106+102T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:26:0:0:14,13:428,334:0.00,31.36:0.00,22.85:0.00,8.51:0.00,1.00:0.00,1.00:0.00,0.96:60,60:13.3,30.8:0,0:0,0:40,66:111,84:24,45:-,NM_001005369.1(MTIF2) c.1106+102T>C:-,0.4:-,NOT_FOUND 2 55473386 rs3833559 CAT C 57 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=CAT/0.3766,C/0.6234;NP=3177;Gene=MTIF2/NM_001005369.1/1;CC=c.1106+85_1106+86delAT;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.1106+85_1106+86delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAT,C:36:35:0:19:17,19:545,585:0.00,56.76:0.00,47.79:0.00,8.97:0.00,1.00:0.00,1.00:0.00,0.99:60,60:10.9,19.3:0,0:0,0:52,81:99,69:40,60:-,NM_001005369.1(MTIF2) c.1106+85_1106+86delAT:-,0.68:-,NOT_FOUND 2 55473598 . C . . NT END=55476530;NT GT ./. 2 55473681 rs2589081 A C 80 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.03894,C/0.9611;Gene=MTIF2/NM_001005369.1/1;CC=c.982-84T>G;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.982-84T>G;VC=Intron;DM=MTIF2/GTP_EFTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:5:0:0:23:696:80.47:11.88:68.59:1.00:1.00:1.00:60:36.2:0:0:117:34:24:NM_001005369.1(MTIF2) c.982-84T>G,NM_001005369.1(MTIF2) c.982-84T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 55476671 . C . . NT END=55479612;NT GT ./. 2 55476937 rs2576711 A C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4527,C/0.5473;PC=0.437;Gene=MTIF2/NM_001005369.1/1;CC=c.842-267T>G;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.842-267T>G;VC=Intron;DM=MTIF2/GTP_EFTU;DM=MTIF2/IF-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C:7:0:0:0:4,3:125,98:0.00,9.16:0.00,0.00:0.00,9.16:0.00,0.69:0.00,0.00:0.00,0.69:60,60:17.0,65.0:0,0:0,0:112,118:39,33:27,12:-,NM_001005369.1(MTIF2) c.842-267T>G:-,0.61:-,NOT_FOUND 2 55479790 . C . . NT END=55481176;NT GT ./. 2 55480022 rs2043712 A T 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1302,T/0.8698;PC=0.517;Gene=MTIF2/NM_001005369.1/1;CC=c.665-233T>A;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.665-233T>A;VC=Intron;DM=MTIF2/GTP_EFTU;DM=MTIF2/IF-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:233:26.64:0.00:26.64:1.00:0.00:1.00:60:33.3:0:0:74:76:42:NM_001005369.1(MTIF2) c.665-233T>A,NM_001005369.1(MTIF2) c.665-233T>A:0.89,0.89:NOT_FOUND,NOT_FOUND 2 55480993 rs2864826 C T 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.375,T/0.625;Gene=MTIF2/NM_001005369.1/1;CC=c.664+184G>A;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.664+184G>A;VC=Intron;DM=MTIF2/GTP_EFTU;DM=MTIF2/IF-2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:14:0:0:6,8:194,257:0.00,25.36:0.00,25.36:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.2,41.5:0,1:0,0:11,20:140,131:10,7:-,NM_001005369.1(MTIF2) c.664+184G>A:-,0.68:-,NOT_FOUND 2 55481338 . C . . NT END=55481789;NT GT ./. 2 55481486 rs10678751 T TATA 31 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.03834,TAAT/.,TATA/0.9617;NP=1092;Gene=MTIF2/NM_001005369.1/1;CC=c.504-150_504-149insTAT;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.504-150_504-149insTAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:T,TATA:13:1:10:0:3,10:90,292:0.00,30.91:0.00,3.66:0.00,27.25:0.00,1.00:0.00,0.85:0.00,1.00:60,60:10.7,20.7:0,0:0,0:146,98:3,52:0,23:-,NM_001005369.1(MTIF2) c.504-150_504-149insTAT:-,NOT_FOUND:-,NOT_FOUND 2 55481962 . C . . NT END=55489451;NT GT ./. 2 55489564 . C . . NT END=55490775;NT GT ./. 2 55489629 rs2589093 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3694,C/0.6306;PC=0.261;Gene=MTIF2/NM_001005369.1/1;CC=c.220-66A>G;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.220-66A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:20:4:0:0:1,8,11:11,237,279:0.19,21.90,0.00:-0.06,1.24,0.00:0.24,20.66,0.00:0.00,0.99,0.00:0.00,0.87,0.00:0.00,1.00,0.00:60,70,60:21.0,55.9,30.5:0,0,0:0,0,0:3,107,118:147,43,33:0,12,29:NM_001005369.1(MTIF2) c.220-66A>G,-:0.68,-:NOT_FOUND,- 2 55489677 rs66500251 C T 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5567,T/0.3862;DB;DBA=NA;PAF=C/0.5567,CT/0.05631,CTT/0.0007987;DB;DBA=NA;PAF=C/0.5567,CT/0.05631;NP=32;Gene=MTIF2/NM_001005369.1/1;CC=c.220-114G>A;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.220-114G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,C,T:12:0:0:1:1,5,6:10,141,84:0.31,0.00,7.82:0.00,0.00,0.00:0.31,0.00,7.82:0.00,0.00,0.98:0.00,0.00,0.00:0.00,0.00,0.98:60,60,70:21.0,66.0,74.7:0,0,0:0,0,0:51,129,107:99,20,43:0,10,16:-,NM_001005369.1(MTIF2) c.220-114G>A:-,NOT_FOUND:-,NOT_FOUND 2 55490745 . CA C 27 idl,rn VT=DEL;SST=Single;DP=46;NP=14;PC=0.022;Gene=MTIF2/NM_001005369.1/1;CC=c.219+30delT;VC=Intron;Gene=MTIF2/NM_002453.2/0;CC=c.219+30delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,CA,I,C:40:45:9:16:2,20,8,10:56,683,282,465:3.45,0.00,21.09,27.11:1.66,0.00,19.95,24.46:1.79,0.00,1.13,2.65:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.79:60,60,60,60:62.0,31.5,44.5,27.6:0,0,1,5:0,0,0,0:0,29,58,58:151,122,93,92:0,17,33,36:-,NM_001005369.1(MTIF2) c.219+30delT:-,NOT_FOUND:-,NOT_FOUND 2 55490819 rs1056445 G T 142 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.3708,C/.,T/0.6292;Gene=MTIF2/NM_001005369.1/1;CC=c.176C>A;ProtCh=p.T59N;VC=Missense;Gene=MTIF2/NM_002453.2/0;CC=c.176C>A;ProtCh=p.T59N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:107:92:0:0:60,47:1943,1517:0.00,142.27:0.00,89.34:0.00,52.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,38.0:0,0:0,0:58,52:80,83:27,22:-,NM_001005369.1(MTIF2) c.176C>A (p.Thr59Asn):-,0.68:-,0.688221 2 55490995 . G . . NT END=55518846;NT GT ./. 2 55518742 rs2249856 T C 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2135,C/0.7865;PC=1.000;Gene=CCDC88A/NM_001135597.1/1;CC=c.*35+70A>G;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.*35+70A>G;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.*35+70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:18:0:0:18:608:69.38:69.38:0.00:1.00:1.00:0.00:60:41.8:0:0:39:112:28:NM_001135597.1(CCDC88A) c.*35+70A>G,NM_001135597.1(CCDC88A) c.*35+70A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 55518912 . C . . NT END=55521296;NT GT ./. 2 55519148 rs59122515 C A 24 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2177,A/0.7823;Gene=CCDC88A/NM_001135597.1/1;CC=c.5549-237G>T;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.5327-237G>T;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.5468-237G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:210:24.34:0.00:24.34:1.00:0.00:1.00:60:49.1:6:0:100:51:31:NM_001135597.1(CCDC88A) c.5549-237G>T,NM_001135597.1(CCDC88A) c.5549-237G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 55519152 rs58553140 CCT C 19 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CCT/0.2177,C/0.7823;NP=145;PC=0.520;Gene=CCDC88A/NM_001135597.1/1;CC=c.5549-243_5549-242delAG;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.5327-243_5327-242delAG;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.5468-243_5468-242delAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:CCT,C:7:0:0:6:1,6:29,176:0.00,19.21:0.00,0.00:0.00,19.21:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.0,52.8:0,0:0,0:150,88:1,62:0,21:-,NM_001135597.1(CCDC88A) c.5549-243_5549-242delAG:-,0.83:-,NOT_FOUND 2 55522422 rs2589110 A G 251 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.09085,G/0.9091;PC=0.049;Gene=CCDC88A/NM_001135597.1/1;CC=c.5548+311T>C;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.5326+311T>C;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.5467+311T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:65:40:0:0:65:2204:251.39:128.71:122.69:1.00:1.00:1.00:60:39.7:0:0:61:85:29:NM_001135597.1(CCDC88A) c.5548+311T>C,NM_001135597.1(CCDC88A) c.5548+311T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 55523193 . C . . NT END=55523393;NT GT ./. 2 55523308 rs370401781 C CAA 65 idl,nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.3149,A/0.002995;Gene=CCDC88A/NM_001135597.1/1;CC=c.5088+85_5088+86insTT;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.5088+85_5088+86insTT;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.5007+85_5007+86insTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:C,CAA:28:24:31:0:7,21:205,913:0.00,64.87:0.00,48.58:0.00,16.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.7,84.9:0,10:0,0:136,75:13,75:9,26:-,NM_001135597.1(CCDC88A) c.5088+85_5088+86insTT:-,NOT_FOUND:-,NOT_FOUND 2 55523309 rs5831349 C A 133 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=CCDC88A/NM_001135597.1/1;CC=c.5088+85G>T;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.5088+85G>T;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.5007+85G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:60:A,C:40:26:0:0:38,2:1184,42:133.14,0.00:85.11,0.00:48.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.4,12.5:32,0:0,0:80,14:67,115:33,12:NM_001135597.1(CCDC88A) c.5088+85G>T,NM_001135597.1(CCDC88A) c.5088+85G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 55523660 . C . . NT END=55526974;NT GT ./. 2 55526751 rs2589116 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1318,G/0.8682;PC=0.001;Gene=CCDC88A/NM_001135597.1/1;CC=c.4822+224T>C;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.4822+224T>C;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.4741+224T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:138:16.15:16.15:0.00:1.00:1.00:0.00:60:36.6:0:0:62:89:33:NM_001135597.1(CCDC88A) c.4822+224T>C,NM_001135597.1(CCDC88A) c.4822+224T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 55527056 . C . . NT END=55528341;NT GT ./. 2 55527108 rs1545121 G A 123 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.252,A/0.748;Gene=CCDC88A/NM_001135597.1/1;CC=c.4742-53C>T;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.4742-53C>T;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.4661-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:11:0:0:33:1068:122.53:25.09:97.45:1.00:1.00:1.00:60:35.4:0:0:97:40:29:NM_001135597.1(CCDC88A) c.4742-53C>T,NM_001135597.1(CCDC88A) c.4742-53C>T:0.8,0.8:0.791064,0.791064 2 55528257 rs2576699 A C 42 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1382,C/0.8618;PC=0.001;Gene=CCDC88A/NM_001135597.1/1;CC=c.4741+85T>G;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.4741+85T>G;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.4660+85T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:368:42.05:36.18:5.87:1.00:1.00:1.00:60:39.2:0:0:64:86:24:NM_001135597.1(CCDC88A) c.4741+85T>G,NM_001135597.1(CCDC88A) c.4741+85T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 55528414 . C . . NT END=55529007;NT GT ./. 2 55528514 rs2589117 A G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2159,G/0.7841;PC=0.001;Gene=CCDC88A/NM_001135597.1/1;CC=c.4670-101T>C;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.4670-101T>C;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.4589-101T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:300:34.29:0.00:34.29:1.00:0.00:1.00:60:35.6:0:0:98:41:16:NM_001135597.1(CCDC88A) c.4670-101T>C,NM_001135597.1(CCDC88A) c.4670-101T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 2 55528548 rs60957899 CAACTAGAAACTGG C 11 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CAACTAGAAACTGG/0.2155,C/0.7845;DB;DBA=NA;PAF=CAACTAGAAACTGG/0.2155,C/0.7845;NP=333;PC=0.015;Gene=CCDC88A/NM_001135597.1/1;CC=c.4670-148_4670-136delCCAGTTTCTAGTT;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.4670-148_4670-136delCCAGTTTCTAGTT;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.4589-148_4589-136delCCAGTTTCTAGTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:CAACTAGAAACTGG,C:9:0:0:4:5,4:157,120:0.00,11.22:0.00,0.00:0.00,11.22:0.00,0.85:0.00,0.00:0.00,0.85:60,60:38.0,15.8:0,0:0,0:132,33:7,117:1,13:-,NM_001135597.1(CCDC88A) c.4670-148_4670-136delCCAGTTTCTAGTT:-,0.84:-,NOT_FOUND 2 55528855 rs2920973 A T 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3722,T/0.6278;Gene=CCDC88A/NM_001135597.1/1;CC=c.4669+153T>A;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.4669+153T>A;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.4588+153T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,T:15:15:0:0:6,9:174,296:0.00,29.51:0.00,29.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:19.8,34.3:0,0:0,0:21,72:128,79:12,29:-,NM_001135597.1(CCDC88A) c.4669+153T>A:-,0.7:-,NOT_FOUND 2 55529209 . C . . NT END=55530204;NT GT ./. 2 55530289 . C . . NT END=55535944;NT GT ./. 2 55536160 . C . . NT END=55536297;NT GT ./. 2 55536391 . C . . NT END=55539569;NT GT ./. 2 55539716 . C . . NT END=55543063;NT GT ./. 2 55539905 rs10189439 C A 9 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4677,A/0.5323;Gene=CCDC88A/NM_001135597.1/1;CC=c.3931-190G>T;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.3931-190G>T;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.3934-190G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,C:8:0:0:0:3,5:98,145:8.94,0.00:0.00,0.00:8.94,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:32.7,29.6:0,0:0,0:142,88:9,60:3,31:NM_001135597.1(CCDC88A) c.3931-190G>T,-:0.53,-:NOT_FOUND,- 2 55539947 rs79872332 TATATA T 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TATATA/0.5609,T/0.4391;DB;DBA=NA;PAF=TATATA/0.5609,T/0.4391;NP=44;Gene=CCDC88A/NM_001135597.1/1;CC=c.3931-237_3931-233delTATAT;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.3931-237_3931-233delTATAT;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.3934-237_3934-233delTATAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:TATATA,T:6:0:0:3:3,3:86,99:0.00,9.53:0.00,0.00:0.00,9.53:0.00,0.73:0.00,0.00:0.00,0.73:60,60:45.3,14.0:0,0:0,0:119,25:20,124:11,7:-,NM_001135597.1(CCDC88A) c.3931-237_3931-233delTATAT:-,0.45:-,NOT_FOUND 2 55543251 . C . . NT END=55544341;NT GT ./. 2 55544486 . C . . NT END=55544699;NT GT ./. 2 55544978 . C . . NT END=55545978;NT GT ./. 2 55546141 . C . . NT END=55549663;NT GT ./. 2 55549523 rs397739137 G GA 21 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2167,GA/0.7833;DB;DBA=NA;PAF=G/0.2167,GA/0.7833;NP=871;PC=0.001;Gene=CCDC88A/NM_001135597.1/1;CC=c.3159+140dupT;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.3159+140dupT;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.3162+140dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:GA:6:6:6:0:6:185:21.36:21.36:0.00:1.00:1.00:0.00:60:12.5:0:0:95:55:35:NM_001135597.1(CCDC88A) c.3159+140_3159+141insT,NM_001135597.1(CCDC88A) c.3159+140_3159+141insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 55549829 . C . . NT END=55555429;NT GT ./. 2 55555572 . C . . NT END=55559549;NT GT ./. 2 55555726 rs2576703 T C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8596,C/0.1404;Gene=CCDC88A/NM_001135597.1/1;CC=c.2856-158A>G;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.2856-158A>G;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.2856-155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:11:0:0:0:6,5:183,168:17.86,0.00:0.00,0.00:17.86,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:60.0,0.0:0,0:0,0:56,81:94,70:25,19:NM_001135597.1(CCDC88A) c.2856-158A>G,-:0.12,-:NOT_FOUND,- 2 55559569 . C . . NT END=55559701;NT GT ./. 2 55559651 rs368125112 CA C 23 idl,rn VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=126;PC=0.010;Gene=CCDC88A/NM_001135597.1/1;CC=c.2855+50delT;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.2855+50delT;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.2855+50delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,CA,I,C:62:46:4:10:2,47,4,9:22,1378,112,317:-0.02,0.00,7.00,22.76:-0.44,0.00,3.39,16.80:0.41,0.00,3.61,5.97:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.97:60,60,60,60:11.0,17.6,34.5,6.1:0,0,0,1:0,0,0,0:10,66,53,42:141,71,98,92:3,32,24,33:-,NM_001135597.1(CCDC88A) c.2855+50delT:-,NOT_FOUND:-,NOT_FOUND 2 55559830 . C . . NT END=55561229;NT GT ./. 2 55559971 rs77124524 T C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9718,C/0.02815;Gene=CCDC88A/NM_001135597.1/1;CC=c.2728-142A>G;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.2728-142A>G;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.2728-142A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:8,9:256,269:24.30,0.00:0.00,0.00:24.30,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:37.2,5.0:0,0:0,0:67,101:83,50:25,22:NM_001135597.1(CCDC88A) c.2728-142A>G,-:0.02,-:NOT_FOUND,- 2 55562301 . C . . NT END=55563816;NT GT ./. 2 55563656 rs2589069 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8612,C/0.1388;Gene=CCDC88A/NM_001135597.1/1;CC=c.1656+161A>G;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.1656+161A>G;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.1656+161A>G;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,C,T:11:11:0:0:1,4,6:12,125,185:0.45,11.47,0.00:0.45,11.47,0.00:0.00,0.00,0.00:0.00,0.82,0.00:0.00,0.82,0.00:0.00,0.00,0.00:60,60,60:112.0,31.2,0.0:0,0,0:0,0,0:105,99,14:45,47,135:0,29,10:NM_001135597.1(CCDC88A) c.1656+161A>G,-:0.12,-:NOT_FOUND,- 2 55563955 . C . . NT END=55566599;NT GT ./. 2 55566485 rs371070005 TAAC T 41 sb,nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=TAAC/0.5335,T/0.4665;DB;DBA=NA;PAF=TAAC/0.5335,T/0.4665;NP=609;PC=0.002;Gene=CCDC88A/NM_001135597.1/1;CC=c.1518+112_1518+114delGTT;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.1518+112_1518+114delGTT;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.1518+112_1518+114delGTT;VC=Intron;DM=CCDC88A/HOOK;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAC,T:29:27:0:14:15,14:477,435:0.00,41.45:0.00,39.54:0.00,1.92:0.00,1.00:0.00,1.00:0.00,0.99:60,70:3.3,5.1:0,0:0,0:41,32:102,118:37,20:-,NM_001135597.1(CCDC88A) c.1518+112_1518+114delGTT:-,0.46:-,NOT_FOUND 2 55566785 . C . . NT END=55570783;NT GT ./. 2 55566952 rs66507139 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6508,C/0.3492;PC=0.977;Gene=CCDC88A/NM_001135597.1/1;CC=c.1334-168A>G;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.1334-168A>G;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.1334-168A>G;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,T:18:0:0:0:5,13:177,418:15.47,0.00:0.00,0.00:15.47,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:35.4,6.4:0,0:0,0:131,90:18,60:9,32:NM_001135597.1(CCDC88A) c.1334-168A>G,-:0.38,-:NOT_FOUND,- 2 55570929 . C . . NT END=55571503;NT GT ./. 2 55571085 rs2589077 C T 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4683,T/0.5317;Gene=CCDC88A/NM_001135597.1/1;CC=c.1189-157G>A;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.1189-157G>A;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.1189-157G>A;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,T:15:0:0:0:6,9:148,300:0.00,29.98:0.00,0.00:0.00,29.98:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.5,47.4:0,0:0,0:82,108:68,43:35,32:-,NM_001135597.1(CCDC88A) c.1189-157G>A:-,0.52:-,NOT_FOUND 2 55571163 rs2589078 C T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8604,T/0.1396;PC=0.015;Gene=CCDC88A/NM_001135597.1/1;CC=c.1189-235G>A;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.1189-235G>A;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.1189-235G>A;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:7:0:0:0:3,4:65,130:0.00,12.86:0.00,0.00:0.00,12.86:0.00,0.90:0.00,0.00:0.00,0.90:60,60:2.7,58.8:0,0:0,0:89,127:62,22:24,12:-,NM_001135597.1(CCDC88A) c.1189-235G>A:-,0.12:-,NOT_FOUND 2 55571651 . C . . NT END=55573310;NT GT ./. 2 55573470 . C . . NT END=55576653;NT GT ./. 2 55576634 rs2589090 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.4363,T/0.5637;PC=0.015;Gene=CCDC88A/NM_001135597.1/1;CC=c.882+20G>A;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.882+20G>A;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.882+20G>A;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:41:0:0:23,22:756,712:0.00,68.17:0.00,46.75:0.00,21.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,32.8:0,0:0,0:59,30:92,119:28,24:-,NM_001135597.1(CCDC88A) c.882+20G>A:-,0.55:-,0.487387 2 55576736 . C . . NT END=55582714;NT GT ./. 2 55576869 rs68048646 AT A 15 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=AT/0.5645,A/0.4355;PC=0.001;Gene=CCDC88A/NM_001135597.1/1;CC=c.801-135delA;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.801-135delA;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.801-135delA;VC=Intron;DM=CCDC88A/HOOK;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:AT,A:17:0:0:5:12,5:367,166:0.00,14.51:0.00,0.00:0.00,14.51:0.00,0.88:0.00,0.00:0.00,0.88:60,60:15.6,0.0:1,0:0,0:123,116:23,35:25,10:-,NM_001135597.1(CCDC88A) c.801-135delA:-,0.54:-,NOT_FOUND 2 55576871 rs76235821 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.5645,G/0.4355,T/.;NP=770;PC=0.001;Gene=CCDC88A/NM_001135597.1/1;CC=c.801-136T>C;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.801-136T>C;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.801-136T>C;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,G:14:0:0:1:9,5:287,172:0.00,15.62:0.00,0.00:0.00,15.62:0.00,0.90:0.00,0.00:0.00,0.90:60,60:20.8,0.0:0,0:0,0:110,117:33,34:26,10:-,NM_001135597.1(CCDC88A) c.801-136T>C:-,NOT_FOUND:-,NOT_FOUND 2 55582601 rs5831355 T TTTGACACA 22 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4401,TTT/.,TTTGACACA/0.5599;NP=24;PC=0.021;Gene=CCDC88A/NM_001135597.1/1;CC=c.800+113_800+114insTGTGTCAA;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.800+113_800+114insTGTGTCAA;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.800+113_800+114insTGTGTCAA;VC=Intron;DM=CCDC88A/HOOK;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TTTGACACA:27:27:8:0:1,18,8:9,552,250:-0.05,0.00,21.85:-0.05,0.00,21.93:-0.01,0.00,-0.07:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,0.53:60,60,60:129.0,2.4,59.4:0,0,0:0,0,0:89,57,53:40,92,98:0,25,21:-,NM_001135597.1(CCDC88A) c.800+113_800+114insTGTGTCAA:-,0.53:-,NOT_FOUND 2 55582635 rs2589104 T C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.8566,C/0.1434;Gene=CCDC88A/NM_001135597.1/1;CC=c.800+80A>G;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.800+80A>G;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.800+80A>G;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:30:0:0:10,21:335,653:29.82,0.00:25.06,0.00:4.76,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:66.3,8.8:0,0:0,0:58,80:92,70:31,34:NM_001135597.1(CCDC88A) c.800+80A>G,-:0.12,-:NOT_FOUND,- 2 55582684 rs1437394 A T 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.5194,T/0.4806;PC=0.827;Gene=CCDC88A/NM_001135597.1/1;CC=c.800+31T>A;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.800+31T>A;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.800+31T>A;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:46:36:0:0:25,1,20:792,18,649:0.00,0.46,61.02:0.00,-0.16,52.72:0.00,0.62,8.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.2,256.0,56.6:0,0,0:0,0,0:69,56,45:82,93,97:37,0,35:-,NM_001135597.1(CCDC88A) c.800+31T>A:-,0.48:-,0.412809 2 55582888 . C . . NT END=55589443;NT GT ./. 2 55589434 rs3111412 T A 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.4567,A/0.5433;Gene=CCDC88A/NM_001135597.1/1;CC=c.627+10A>T;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.627+10A>T;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.627+10A>T;VC=Intron;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:49:40:0:0:24,25:788,842:75.50,0.00:44.91,0.00:30.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,6.7:0,0:0,0:48,61:100,90:29,17:NM_001135597.1(CCDC88A) c.627+10A>T,-:0.53,-:0.463137,- 2 55589585 . C . . NT END=55591085;NT GT ./. 2 55591170 . C . . NT END=55599587;NT GT ./. 2 55593670 rs375598439 TAC T 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=CCDC88A/NM_001135597.1/1;CC=c.403-2503_403-2502delGT;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.403-2503_403-2502delGT;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.403-2503_403-2502delGT;VC=Intron;DM=CCDC88A/HOOK;DM=CCDC88A/HOOK;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,TAC,T:5:2:0:5:1,1,3:12,34,116:0.84,0.00,9.83:-0.04,0.00,3.23:0.88,0.00,6.60:0.00,0.00,0.73:0.00,0.00,0.79:0.00,0.00,0.96:60,60,60:24.0,0.0,30.0:0,0,1:0,0,0:45,42,50:92,76,100:0,0,38:-,NM_001135597.1(CCDC88A) c.403-2503_403-2502delGT:-,NOT_FOUND:-,NOT_FOUND 2 55599647 . C . . NT END=55601949;NT GT ./. 2 55599655 rs3111411 G A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.5359,A/0.4641;PC=0.998;Gene=CCDC88A/NM_001135597.1/1;CC=c.344-9C>T;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.344-9C>T;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.344-9C>T;VC=Intron;DM=CCDC88A/HOOK;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:25:0:0:9,19:304,667:27.06,0.00:16.53,0.00:10.53,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:35.1,1.8:0,0:0,0:78,86:60,38:15,24:NM_001135597.1(CCDC88A) c.344-9C>T,-:0.48,-:0.547248,- 2 55602020 . C . . NT END=55615913;NT GT ./. 2 55615733 rs3762510 G A 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5865,A/0.4135;Gene=CCDC88A/NM_001135597.1/1;CC=c.273+181C>T;VC=Intron;Gene=CCDC88A/NM_001254943.1/0;CC=c.273+181C>T;VC=Intron;Gene=CCDC88A/NM_018084.4/0;CC=c.273+181C>T;VC=Intron;DM=CCDC88A/HOOK;DM=CCDC88A/HOOK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:7:7:0:0:3,4:91,140:8.45,0.00:8.45,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:35.0,0.0:0,0:0,0:19,22:131,127:6,5:NM_001135597.1(CCDC88A) c.273+181C>T,-:0.44,-:NOT_FOUND,- 2 55616023 . C . . NT END=55645951;NT GT ./. 2 55646053 . C . . NT END=55646152;NT GT ./. 2 55646216 . T . . NT END=55746937;NT GT ./. 2 55649468 rs369602818 GCGCACA G 11 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=89;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:GCGCACA,G:4:4:0:3:1,3:24,101:0.00,10.56:0.00,9.03:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:60.0,40.7:0,0:0,0:17,72:121,78:0,3:-,NM_001135597.1(CCDC88A) c.-842-u2417_-842-u2412delTGTGCG:-,NOT_FOUND:-,NOT_FOUND 2 55662398 rs10865285 C A 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.5715,A/0.4285;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,C,G:20:18:0:0:7,12,1:196,415,10:17.48,0.00,0.09:13.02,0.00,0.14:4.46,0.00,-0.04:0.97,0.00,0.00:1.00,0.00,0.00:0.87,0.00,0.00:60,60,60:57.7,6.4,10.0:0,0,0:0,0,0:47,65,140:81,85,11:39,34,0:chr2 g.55662397C>A (intergenic),-:0.45,-:NOT_FOUND,- 2 55662423 rs2100454 T C 25 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.1414,C/0.8586;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:18:0:0:8,12:271,397:25.07,0.00:24.06,0.00:1.01,0.00:0.99,0.00:1.00,0.00:0.94,0.00:60,60:55.6,2.8:0,0:0,0:50,76:94,75:28,29:chr2 g.55662422T>C (intergenic),-:0.89,-:NOT_FOUND,- 2 55662790 rs10865286 A G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5823,G/0.4177;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:A,G:15:7:0:0:7,8:179,270:0.00,26.33:0.00,5.90:0.00,20.44:0.00,1.00:0.00,0.99:0.00,1.00:60,60:18.7,33.8:0,0:0,0:120,63:28,87:20,15:-,chr2 g.55662789A>G (intergenic):-,0.44:-,NOT_FOUND 2 55747053 . G . . NT END=55747540;NT GT ./. 2 55747616 . G . . NT END=55749237;NT GT ./. 2 55749303 . G . . NT END=55750856;NT GT ./. 2 55750959 . G . . NT END=55756013;NT GT ./. 2 55756129 . G . . NT END=55761008;NT GT ./. 2 55760842 rs370265229 A T 15 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=95;PC=0.004;Gene=CFAP36/NM_001282761.1/1;CC=c.473-167A>T;VC=Intron;Gene=CFAP36/NM_080667.6/0;CC=c.398-167A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:70:110.8:2:0:10:140:2:NM_080667.5(CCDC104) c.398-167A>T,NM_080667.5(CCDC104) c.398-167A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 55760844 rs9808405 A T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3488,T/0.6512;PC=0.008;Gene=CFAP36/NM_001282761.1/1;CC=c.473-165A>T;VC=Intron;Gene=CFAP36/NM_080667.6/0;CC=c.398-165A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:70:110.8:2:0:12:138:2:NM_080667.5(CCDC104) c.398-165A>T,NM_080667.5(CCDC104) c.398-165A>T:0.57,0.57:NOT_FOUND,NOT_FOUND 2 55760940 rs4671248 G T 86 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3169,T/0.6831;PC=0.006;Gene=CFAP36/NM_001282761.1/1;CC=c.473-69G>T;VC=Intron;Gene=CFAP36/NM_080667.6/0;CC=c.398-69G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:22:0:0:22:751:85.59:69.88:15.71:1.00:1.00:1.00:70:48.0:0:0:47:104:32:NM_080667.5(CCDC104) c.398-69G>T,NM_080667.5(CCDC104) c.398-69G>T:0.72,0.72:NOT_FOUND,NOT_FOUND 2 55761097 . G . . NT END=55762847;NT GT ./. 2 55762832 rs72803515 T C 111 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.969,C/0.03095;PC=0.010;Gene=CFAP36/NM_001282761.1/1;CC=c.561-16T>C;VC=Intron;Gene=CFAP36/NM_080667.6/0;CC=c.486-16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:24:0:0:29:972:111.01:63.62:47.39:1.00:1.00:1.00:60:36.3:0:0:63:81:32:NM_080667.5(CCDC104) c.486-16T>C,NM_080667.5(CCDC104) c.486-16T>C:0.03,0.03:0.037483,0.037483 2 55762900 . G . . NT END=55764618;NT GT ./. 2 55764722 . G . . NT END=55765900;NT GT ./. 2 55765882 rs35188812 CT C 31 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.005;Gene=CFAP36/NM_001282761.1/1;CC=c.715+1175delT;VC=Intron;Gene=CFAP36/NM_080667.6/0;CC=c.640+1175delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:43:34:6:11:27,5,11:833,199,355:0.00,12.96,30.77:0.00,5.16,18.28:0.00,7.80,12.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:31.1,23.2,12.2:0,1,0:0,0,0:51,75,75:100,72,66:35,38,22:-,NM_080667.5(CCDC104) c.640+1162delT:-,NOT_FOUND:-,NOT_FOUND 2 55766122 . g . . NT END=55771073;NT GT ./. 2 55771050 rs3816489 C G 120 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.3942,A/.,G/0.6058;PC=0.813;Gene=CFAP36/NM_001282761.1/1;CC=c.716-24C>G;VC=Intron;Gene=CFAP36/NM_080667.6/0;CC=c.641-24C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:30:0:0:34:1038:119.93:94.87:25.06:1.00:1.00:1.00:60:55.5:0:0:56:88:26:NM_080667.5(CCDC104) c.641-24C>G,NM_080667.5(CCDC104) c.641-24C>G:0.65,0.65:0.709834,0.709834 2 55771161 rs1045910 A G 173 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.1737,G/0.8263;PC=0.277;Gene=CFAP36/NM_001282761.1/1;CC=c.803A>G;ProtCh=p.D268G;VC=Missense;Gene=CFAP36/NM_080667.6/0;CC=c.728A>G;ProtCh=p.D243G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:G:48:33:0:0:48:1500:172.67:81.68:90.99:1.00:1.00:1.00:60:45.5:0:0:48:100:30:NM_080667.5(CCDC104) c.728A>G (p.Asp243Gly),NM_080667.5(CCDC104) c.728A>G (p.Asp243Gly):0.83,0.83:0.953714,0.953714 2 55771211 . G . . NT END=55771355;NT GT ./. 2 55771506 . G . . NT END=55772042;NT GT ./. 2 55772145 . T . . NT END=55777045;NT GT ./. 2 55777143 . C . . NT END=55785909;NT GT ./. 2 55785692 rs4671249 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1677,A/.,C/0.8323;Gene=PPP4R3B/NM_001122964.2/1;CC=c.2454+219A>G;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.2358+219A>G;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.2199+219A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:114:13.29:13.29:0.00:1.00:1.00:0.00:60:28.5:0:0:76:74:30:NM_001122964.1(SMEK2) c.2454+219A>G,NM_001122964.1(SMEK2) c.2454+219A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 2 55785828 rs72803536 A G 114 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9688,G/0.03115;PC=0.944;Gene=PPP4R3B/NM_001122964.2/1;CC=c.2454+83T>C;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.2358+83T>C;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.2199+83T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:31:0:0:32:985:113.65:103.86:9.79:1.00:1.00:1.00:60:38.6:0:0:32:118:26:NM_001122964.1(SMEK2) c.2454+83T>C,NM_001122964.1(SMEK2) c.2454+83T>C:0.03,0.03:NOT_FOUND,NOT_FOUND 2 55786105 . C . . NT END=55791447;NT GT ./. 2 55786318 rs7575973 G A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1935,A/0.8065;PC=0.033;Gene=PPP4R3B/NM_001122964.2/1;CC=c.2261-214C>T;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.2165-214C>T;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.2006-214C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,C:9:0:0:0:8,1:231,9:26.50,0.51:0.00,0.00:26.50,0.51:1.00,0.00:0.00,0.00:1.00,0.00:60,36:43.8,209.0:0,0:0,0:71,117:80,33:58,0:NM_001122964.1(SMEK2) c.2261-214C>T,NM_001122964.1(SMEK2) c.2261-214C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 2 55791212 rs72803543 T G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9687,G/0.03135;PC=0.609;Gene=PPP4R3B/NM_001122964.2/1;CC=c.2260+237A>C;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.2164+237A>C;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.2005+237A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:206:23.46:23.46:0.00:1.00:1.00:0.00:60:36.5:0:0:13:137:5:NM_001122964.1(SMEK2) c.2260+237A>C,NM_001122964.1(SMEK2) c.2260+237A>C:0.03,0.03:NOT_FOUND,NOT_FOUND 2 55791634 . C . . NT END=55792036;NT GT ./. 2 55791688 rs72803544 T C 103 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.9687,C/0.03135;Gene=PPP4R3B/NM_001122964.2/1;CC=c.2076-55A>G;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.1980-55A>G;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.1821-55A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:C:30:7:0:0:30:892:103.30:18.83:84.47:1.00:1.00:1.00:60:38.4:0:0:107:43:21:NM_001122964.1(SMEK2) c.2076-55A>G,NM_001122964.1(SMEK2) c.2076-55A>G:0.03,0.03:NOT_FOUND,NOT_FOUND 2 55792178 . C . . NT END=55795328;NT GT ./. 2 55795500 . C . . NT END=55800754;NT GT ./. 2 55800914 . C . . NT END=55804449;NT GT ./. 2 55800992 rs4671250 G T 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.3776,T/0.6224;Gene=PPP4R3B/NM_001122964.2/1;CC=c.1607-79C>A;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.1511-79C>A;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.1510+3459C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:2:0:0:31:966:111.29:3.68:107.62:1.00:1.00:1.00:60:49.8:0:0:117:32:15:NM_001122964.1(SMEK2) c.1607-79C>A,NM_001122964.1(SMEK2) c.1607-79C>A:0.66,0.66:NOT_FOUND,NOT_FOUND 2 55801022 rs369126683 C CT 11 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1;NP=4;Gene=PPP4R3B/NM_001122964.2/1;CC=c.1607-110_1607-109insA;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.1511-110_1511-109insA;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.1510+3428_1510+3429insA;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,CT:16:1:8:0:11,5:340,201:0.00,10.73:0.00,1.60:0.00,9.13:0.00,0.86:0.00,0.51:0.00,0.86:60,60:52.9,130.4:1,3:0,0:144,94:6,42:3,28:-,NM_001122964.1(SMEK2) c.1607-110_1607-109insA:-,NOT_FOUND:-,NOT_FOUND 2 55804493 . c . . NT END=55806813;NT GT ./. 2 55806918 . C . . NT END=55808701;NT GT ./. 2 55807174 rs11890141 G A 14 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.383,A/0.617;Gene=PPP4R3B/NM_001122964.2/1;CC=c.1366-257C>T;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.1366-257C>T;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.1366-257C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:124:14.31:0.00:14.31:1.00:0.00:1.00:60:31.0:0:0:144:7:3:NM_001122964.1(SMEK2) c.1366-257C>T,NM_001122964.1(SMEK2) c.1366-257C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 55808835 . C . . NT END=55812185;NT GT ./. 2 55808969 rs1975486 C T 92 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.1597,T/0.8403;Gene=PPP4R3B/NM_001122964.2/1;CC=c.1234-135G>A;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.1234-135G>A;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.1234-135G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:2:0:0:26:795:91.82:3.83:88.00:1.00:1.00:1.00:60:42.7:0:0:105:44:26:NM_001122964.1(SMEK2) c.1234-135G>A,NM_001122964.1(SMEK2) c.1234-135G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 55812061 rs4312532 A G 55 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4778,G/0.5222;Gene=PPP4R3B/NM_001122964.2/1;CC=c.1233+126T>C;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.1233+126T>C;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.1233+126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:17:0:0:17:469:54.83:54.83:0.00:1.00:1.00:0.00:60:40.8:0:0:66:85:36:NM_001122964.1(SMEK2) c.1233+126T>C,NM_001122964.1(SMEK2) c.1233+126T>C:0.48,0.48:NOT_FOUND,NOT_FOUND 2 55812304 . C . . NT END=55813752;NT GT ./. 2 55813871 . C . . NT END=55816013;NT GT ./. 2 55815997 rs6545508 T C 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8233,C/0.1767;Gene=PPP4R3B/NM_001122964.2/1;CC=c.999+18A>G;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.999+18A>G;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.999+18A>G;VC=Intron;DM=PPP4R3B/SMK-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:22:0:0:25:791:90.93:63.64:27.29:1.00:1.00:1.00:60:48.7:0:0:40:110:24:NM_001122964.1(SMEK2) c.999+18A>G,NM_001122964.1(SMEK2) c.999+18A>G:0.14,0.14:0.191278,0.191278 2 55816093 . C . . NT END=55818640;NT GT ./. 2 55818834 . G . . NT END=55825550;NT GT ./. 2 55819041 rs72803576 C A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9685,A/0.03155;PC=0.001;Gene=PPP4R3B/NM_001122964.2/1;CC=c.922-2949G>T;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.922-2949G>T;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.922-2949G>T;VC=Intron;DM=PPP4R3B/SMK-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:144:16.73:0.00:16.73:1.00:0.00:1.00:60:42.2:0:0:73:78:21:NM_001122964.1(SMEK2) c.922-2949G>T,NM_001122964.1(SMEK2) c.922-2949G>T:0.03,0.03:NOT_FOUND,NOT_FOUND 2 55826176 . C . . NT END=55831112;NT GT ./. 2 55826403 rs1814457 A G 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1697,G/0.8303;Gene=PPP4R3B/NM_001122964.2/1;CC=c.298-228T>C;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.298-228T>C;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.298-228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:200:23.31:3.68:19.63:1.00:1.00:1.00:60:54.7:0:0:107:44:16:NM_001122964.1(SMEK2) c.298-228T>C,NM_001122964.1(SMEK2) c.298-228T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 55831213 . C . . NT END=55842585;NT GT ./. 2 55842643 . C . . NT END=55844278;NT GT ./. 2 55844105 rs782593 C T 86 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.1721,T/0.8279;Gene=PPP4R3B/NM_001122964.2/1;CC=c.142+175G>A;VC=Intron;Gene=PPP4R3B/NM_001282850.1/0;CC=c.142+175G>A;VC=Intron;Gene=PPP4R3B/NM_020463.3/0;CC=c.142+175G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:23:0:0:23:748:85.72:85.72:0.00:1.00:1.00:0.00:60:39.9:0:0:27:124:23:NM_001122964.1(SMEK2) c.142+175G>A,NM_001122964.1(SMEK2) c.142+175G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 2 55844422 . G . . NT END=55863371;NT GT ./. 2 55844616 rs397706452 A AG 104 nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=228;Gene=PPP4R3B/NM_001122964.2/1;CC=c.-196dupC;VC=5UTR;Gene=PPP4R3B/NM_001282850.1/0;CC=c.-196dupC;VC=5UTR;Gene=PPP4R3B/NM_020463.3/0;CC=c.-196dupC;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A,G,AG:33:0:31:0:1,1,31:32,29,915:0.00,1.85,104.19:0.00,0.00,0.00:0.00,1.85,104.19:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:0.0,124.0,11.9:0,1,0:0,0,0:147,141,95:2,10,55:0,0,39:NM_001122964.1(SMEK2) c.-196dupC,NM_001122964.1(SMEK2) c.-196dupC:1,1:NOT_FOUND,NOT_FOUND 2 55863360 rs397712271 T TA 114 idl,rn VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1599;NP=3;Gene=PNPT1/NM_033109.4/1;CC=c.*11dupT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,T,TA:44:40:35:0:3,8,33:87,252,1141:6.34,0.00,113.99:6.45,0.00,87.65:-0.10,0.00,26.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:37.7,2.6,8.6:1,0,2:0,0,0:2,107,60:149,43,86:1,28,28:-,NM_033109.3(PNPT1) c.*11dupT:-,NOT_FOUND:-,NOT_FOUND 2 55863528 . C . . NT END=55864686;NT GT ./. 2 55864735 . C . . NT END=55867761;NT GT ./. 2 55867841 . C . . NT END=55870292;NT GT ./. 2 55870349 . C . . NT END=55870453;NT GT ./. 2 55870561 . C . . NT END=55871771;NT GT ./. 2 55871856 . C . . NT END=55872483;NT GT ./. 2 55871932 rs71393504 AT A 9 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=26;PC=0.011;Gene=PNPT1/NM_033109.4/1;CC=c.1823-78delA;VC=Intron;DM=PNPT1/KH_1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:AT,I,A:11:4:1:3:7,1,3:226,32,101:0.00,2.35,8.87:0.00,-0.10,1.31:0.00,2.45,7.56:0.00,0.00,0.60:0.00,0.00,0.72:0.00,0.00,0.91:60,60,60:7.6,18.0,4.0:0,0,0:0,0,0:119,85,85:29,64,64:16,0,1:-,NM_033109.3(PNPT1) c.1823-78delA:-,NOT_FOUND:-,NOT_FOUND 2 55872568 . C . . NT END=55873393;NT GT ./. 2 55872717 rs72805490 T C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9728,C/0.02716;Gene=PNPT1/NM_033109.4/1;CC=c.1739-150A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:201:22.96:0.00:22.96:1.00:0.00:1.00:60:39.0:0:0:74:74:34:NM_033109.3(PNPT1) c.1739-150A>G,NM_033109.3(PNPT1) c.1739-150A>G:0.02,0.02:NOT_FOUND,NOT_FOUND 2 55873357 rs72805494 G C 81 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9728,C/0.02716;Gene=PNPT1/NM_033109.4/1;CC=c.1738+37C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A,C:23:20:0:0:1,22:11,706:0.39,80.59:0.39,57.19:0.00,23.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:82.0,36.5:0,0:0,0:120,31:30,116:0,22:NM_033109.3(PNPT1) c.1738+37C>G,NM_033109.3(PNPT1) c.1738+37C>G:0.02,0.02:0.028756,0.028756 2 55873458 . C . . NT END=55873549;NT GT ./. 2 55873622 . C . . NT END=55874481;NT GT ./. 2 55874589 . C . . NT END=55882034;NT GT ./. 2 55874657 . A AT 10 rn VT=INS;SST=Single;DP=16;Gene=PNPT1/NM_033109.4/1;CC=c.1496-70_1496-69insA;VC=Intron;DM=PNPT1/RNase_PH;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,AT,D:16:5:4:1:11,4,1:283,120,19:0.00,10.14,0.89:0.00,3.66,-0.06:0.00,6.48,0.94:0.00,0.75,0.00:0.00,0.75,0.00:0.00,0.96,0.00:60,60,60:8.5,26.5,10.0:0,0,0:0,0,0:142,124,30:8,27,121:4,1,0:-,NM_033109.3(PNPT1) c.1496-70_1496-69insA:-,NOT_FOUND:-,NOT_FOUND 2 55882089 . C . . NT END=55883265;NT GT ./. 2 55883317 rs2627765 G T 82 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6434,T/0.3566;PC=1.000;Gene=PNPT1/NM_033109.4/1;CC=c.1390C>A;ProtCh=p.R464=;VC=Silent;DM=PNPT1/RNase_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:19:0:0:21:718:81.81:65.07:16.74:1.00:1.00:1.00:60:48.1:0:0:78:72:26:NM_033109.3(PNPT1) c.1390C>A (p.(=)),NM_033109.3(PNPT1) c.1390C>A (p.(=)):0.4,0.4:0.486769,0.486769 2 55883356 . C . . NT END=55883439;NT GT ./. 2 55883507 . C . . NT END=55887291;NT GT ./. 2 55883509 . T TA 15 sb;idl,rn VT=INS;SST=Single;DP=37;NP=2;Gene=PNPT1/NM_033109.4/1;CC=c.1285-4dupT;VC=Intron;DM=PNPT1/RNase_PH;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:T,TA,D:37:23:6:4:27,6,4:788,192,128:0.00,15.26,9.51:0.00,0.45,5.93:0.00,14.81,3.57:0.00,0.88,0.00:0.00,0.95,0.00:0.00,0.97,0.00:60,60,60:23.3,7.8,2.5:0,0,0:0,0,0:90,94,70:56,56,48:18,8,17:-,NM_033109.3(PNPT1) c.1285-4_1285-3insT:-,NOT_FOUND:-,NOT_FOUND 2 55883713 rs2586951 C A 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1705,A/0.8295;Gene=PNPT1/NM_033109.4/1;CC=c.1285-207G>T;VC=Intron;DM=PNPT1/RNase_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:159:18.28:0.00:18.28:1.00:0.00:1.00:60:65.2:0:0:113:38:25:NM_033109.3(PNPT1) c.1285-207G>T,NM_033109.3(PNPT1) c.1285-207G>T:0.84,0.84:NOT_FOUND,NOT_FOUND 2 55887329 . C . . NT END=55889090;NT GT ./. 2 55889062 rs782604 G A 124 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.1729,A/0.8271;Gene=PNPT1/NM_033109.4/1;CC=c.1247+29C>T;VC=Intron;DM=PNPT1/RNase_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:28:0:0:32:1086:123.86:87.23:36.63:1.00:1.00:1.00:60:38.9:0:0:48:98:24:NM_033109.3(PNPT1) c.1247+29C>T,NM_033109.3(PNPT1) c.1247+29C>T:0.83,0.83:0.948548,0.948548 2 55889162 . C . . NT END=55894125;NT GT ./. 2 55894229 . C . . NT END=55894996;NT GT ./. 2 55895094 . C . . NT END=55898453;NT GT ./. 2 55895321 rs782636 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1707,C/0.8293;PC=0.001;Gene=PNPT1/NM_033109.4/1;CC=c.977-228A>G;VC=Intron;DM=PNPT1/PNPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:32.2:0:0:92:58:28:NM_033109.3(PNPT1) c.977-228A>G,NM_033109.3(PNPT1) c.977-228A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 55898512 . C . . NT END=55899129;NT GT ./. 2 55898962 rs147416432 AAAAAC A 19 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AAAAAC/0.973,A/0.02696;NP=58;PC=0.017;Gene=PNPT1/NM_033109.4/1;CC=c.918+163_918+167delGTTTT;VC=Intron;DM=PNPT1/PNPase;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:5:5:166:18.98:15.21:3.78:1.00:1.00:1.00:60:39.0:0:0:41:110:21:NM_033109.3(PNPT1) c.918+163_918+167delGTTTT,NM_033109.3(PNPT1) c.918+163_918+167delGTTTT:0.02,0.02:NOT_FOUND,NOT_FOUND 2 55899182 . C . . NT END=55900027;NT GT ./. 2 55899228 rs782631 A T 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1717,T/0.8283;PC=0.010;Gene=PNPT1/NM_033109.4/1;CC=c.867-47T>A;VC=Intron;DM=PNPT1/PNPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:9:0:0:15:502:57.35:21.32:36.03:1.00:1.00:1.00:60:35.2:0:0:90:61:27:NM_033109.3(PNPT1) c.867-47T>A,NM_033109.3(PNPT1) c.867-47T>A:0.84,0.84:0.950115,0.950115 2 55900215 . C . . NT END=55906816;NT GT ./. 2 55900231 rs146633902 G GA 10 rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9345,GA/0.0655,GAA/.;NP=2;NP=355;NP=4;Gene=PNPT1/NM_033109.4/1;CC=c.680-18dupT;VC=Intron;DM=PNPT1/RNase_PH_C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G,GA:36:16:4:0:1,31,4:10,1032,131:-0.14,0.00,9.61:-0.12,0.00,0.95:-0.02,0.00,8.66:0.00,0.00,0.61:0.00,0.00,0.76:0.00,0.00,0.92:60,60,60:30.0,8.3,8.5:0,0,0:0,0,0:26,111,94:109,39,29:0,17,21:-,NM_033109.3(PNPT1) c.680-18_680-17insT:-,NOT_FOUND:-,NOT_FOUND 2 55906931 . C . . NT END=55907846;NT GT ./. 2 55907560 rs562120728 TA T 9 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.2141,T/0.7859;DB;DBA=NA;PAF=TA/0.2141,T/0.7859;DB;DBA=NA;PAF=TA/0.2141,T/0.7859;NP=89;Gene=PNPT1/NM_033109.4/1;CC=c.565+286delT;VC=Intron;DM=PNPT1/RNase_PH_C;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:TA,T:5:7:0:5:2,3:62,140:0.00,8.84:0.00,8.84:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:28.5,61.0:0,2:0,0:52,48:98,100:49,32:-,NM_033109.3(PNPT1) c.565+286delT:-,NOT_FOUND:-,NOT_FOUND 2 55907895 . C . . NT END=55907989;NT GT ./. 2 55908054 . C . . NT END=55910919;NT GT ./. 2 55910970 . C . . NT END=55912077;NT GT ./. 2 55912184 . C . . NT END=55913504;NT GT ./. 2 55913580 . C . . NT END=55914779;NT GT ./. 2 55913644 rs72807624 C A 95 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.973,A/0.02696;Gene=PNPT1/NM_033109.4/1;CC=c.223-65G>T;VC=Intron;DM=PNPT1/RNase_PH;DM=PNPT1/RNase_PH;DM=PNPT1/RNase_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:11:0:0:25:832:95.12:27.14:67.98:1.00:1.00:1.00:60:33.6:0:0:117:26:14:NM_033109.3(PNPT1) c.223-65G>T,NM_033109.3(PNPT1) c.223-65G>T:0.02,0.02:0.028252,0.028252 2 55914841 . C . . NT END=55920797;NT GT ./. 2 55920959 . G . . NT END=56094207;NT GT ./. 2 56094370 . C . . NT END=56097854;NT GT ./. 2 56094578 rs376096585 C CT 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6967,CT/0.3033;NP=7;PC=0.001;Gene=EFEMP1/NM_001039348.2/1;CC=c.1321-210dupA;VC=Intron;Gene=EFEMP1/NM_001039349.2/0;CC=c.1321-210dupA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,CT:7:0:4:0:3,4:100,128:0.00,12.63:0.00,0.00:0.00,12.63:0.00,0.90:0.00,0.00:0.00,0.90:60,60:97.7,31.5:0,0:0,0:120,120:30,30:7,7:-,NM_001039348.2(EFEMP1) c.1321-210_1321-209insA:-,NOT_FOUND:-,NOT_FOUND 2 56098051 . C . . NT END=56098134;NT GT ./. 2 56098259 . C . . NT END=56102080;NT GT ./. 2 56102201 . C . . NT END=56103757;NT GT ./. 2 56103878 . C . . NT END=56104880;NT GT ./. 2 56105001 . C . . NT END=56108746;NT GT ./. 2 56108870 . C . . NT END=56144799;NT GT ./. 2 56145187 . C . . NT END=56145353;NT GT ./. 2 56145403 . C . . NT END=56149494;NT GT ./. 2 56145541 rs2277887 T C 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.9056,C/0.09445;Gene=EFEMP1/NM_001039348.2/1;CC=c.82-139A>G;VC=Intron;Gene=EFEMP1/NM_001039349.2/0;CC=c.82-139A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:0:0:0:13,9:381,271:37.78,0.00:0.00,0.00:37.78,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:55.8,12.7:0,0:0,0:95,95:56,55:43,47:NM_001039348.2(EFEMP1) c.82-139A>G,-:0.11,-:NOT_FOUND,- 2 56149583 . C . . NT END=56150033;NT GT ./. 2 56150075 . C . . NT END=56150845;NT GT ./. 2 56151188 . G . . NT END=56410327;NT GT ./. 2 56151391 rs201724386 A AT 16 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.7135,AT/0.2865;NP=2;NP=51;PC=0.001;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,C,AT,D:20:0:6:2:11,1,6,2:286,11,179,55:0.00,0.19,15.94,3.96:0.00,0.00,0.00,0.00:0.00,0.19,15.94,3.96:0.00,0.00,0.94,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.94,0.00:60,60,70,60:28.5,58.0,62.8,16.5:0,0,0,0:0,0,0,0:84,27,91,63:66,124,60,87:18,0,23,27:-,NM_001039348.2(EFEMP1) c.-501-u94_-501-u93insA:-,NOT_FOUND:-,NOT_FOUND 2 56151423 rs115559499 C T 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9898,T/0.01018;NP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:7,9:203,291:0.00,28.66:0.00,0.00:0.00,28.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:36.6,50.3:0,0:0,0:109,98:36,52:14,28:-,NM_001039348.2(EFEMP1) c.-501-u125G>A:-,0.01:-,NOT_FOUND 2 56170392 rs6718634 C T 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2534,T/0.7466;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:0:0:0:2,2:70,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,33.0:0,0:0,0:80,103:70,48:64,8:-,chr2 g.56170391C>T (intergenic):-,0.7:-,NOT_FOUND 2 56410082 rs144631327 A G 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9986,G/0.001398;NP=10;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,G:9:9:0:0:4,5:130,150:0.00,14.70:0.00,12.89:0.00,1.81:0.00,0.96:0.00,0.96:0.00,0.70:60,60:10.2,40.2:0,0:0,0:53,87:98,64:38,49:-,NM_001080433.1(CCDC85A) c.-502-u1176A>G:-,0.0023:-,NOT_FOUND 2 56410440 . G . . NT END=56410655;NT GT ./. 2 56410790 rs79421063 C T 226 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=C/0.9818,T/0.01817;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:139:92:0:0:65,74:2093,2325:0.00,226.00:0.00,98.93:0.00,127.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,40.6:0,0:0,0:77,64:70,75:38,29:-,NM_001080433.1(CCDC85A) c.-502-u468C>T:-,0.03:-,NOT_FOUND 2 56410944 rs11407328 C CCG 515 PASS VT=INS;SST=Single;DP=165;DB;DBA=NA;PAF=C/0.005391,CCCG/.,CCG/0.9946,CG/.;NP=650;PC=0.008;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C,G,CCG:165:118:151:0:11,3,151:349,82,4607:0.00,4.36,515.04:0.00,4.42,284.40:0.00,-0.06,230.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.0,50.7,9.2:0,0,0:0,0,0:146,1,67:4,150,79:3,0,31:NM_001080433.1(CCDC85A) c.-502-u314_-502-u313insCG,NM_001080433.1(CCDC85A) c.-502-u314_-502-u313insCG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 56411157 rs960490 T C 571 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=T/0.1563,C/0.8437,G/.;PC=0.010;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:154:98:0:0:154:4974:570.69:261.53:309.15:1.00:1.00:1.00:60:42.9:0:0:75:73:33:NM_001080433.1(CCDC85A) c.-502-u101T>C,NM_001080433.1(CCDC85A) c.-502-u101T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 56411291 . G . . NT END=56411759;NT GT ./. 2 56411363 rs960489 G A 272 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.1597,A/0.8403;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding;Gene=CCDC85A/NM_001080433.1/1;CC=c.-397G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:75:25:0:0:75:2368:272.38:57.44:214.94:1.00:1.00:1.00:60:44.6:0:0:101:45:23:NM_001080433.1(CCDC85A) c.-397G>A,NM_001080433.1(CCDC85A) c.-397G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 56411817 rs35587531 C T 481 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.2863,T/0.7137;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding;Gene=CCDC85A/NM_001080433.1/1;CC=c.58C>T;ProtCh=p.P20S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:129:99:0:0:129:4193:480.55:263.82:216.73:1.00:1.00:1.00:60:53.1:0:0:66:78:34:NM_001080433.1(CCDC85A) c.58C>T (p.Pro20Ser),NM_001080433.1(CCDC85A) c.58C>T (p.Pro20Ser):0.74,0.74:NOT_FOUND,NOT_FOUND 2 56411821 . C T 164 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=133;PC=0.036;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding;Gene=CCDC85A/NM_001080433.1/1;CC=c.62C>T;ProtCh=p.A21V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:133:102:0:0:73,60:2382,1748:0.00,163.50:0.00,90.62:0.00,72.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.9,66.7:0,0:0,0:94,61:56,84:34,34:-,NM_001080433.1(CCDC85A) c.62C>T (p.Ala21Val):-,NOT_FOUND:-,NOT_FOUND 2 56412036 . G . . NT END=56419611;NT GT ./. 2 56412263 rs145093438 C CG 34 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6478,CG/.,CGA/0.006589,CGG/0.3456;NP=4;Gene=LOC100129434/NR_125368.1/0;VC=NonCoding;Gene=CCDC85A/NM_001080433.1/1;CC=c.276+232dupG;VC=Intron;DM=CCDC85A/DUF2216;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,CG:11:0:10:0:1,10:18,309:0.00,34.23:0.00,0.00:0.00,34.23:0.00,1.00:0.00,0.00:0.00,1.00:60,60:39.0,17.3:1,0:0,0:95,113:56,37:0,16:NM_001080433.1(CCDC85A) c.276+228_276+229insG,NM_001080433.1(CCDC85A) c.276+228_276+229insG:0.38,0.38:NOT_FOUND,NOT_FOUND 2 56420576 . G . . NT END=56570013;NT GT ./. 2 56570091 . G . . NT END=56599478;NT GT ./. 2 56599614 . G . . NT END=56602950;NT GT ./. 2 56603071 . G . . NT END=56606884;NT GT ./. 2 56606984 . G . . NT END=56610697;NT GT ./. 2 56610679 rs114141294 G A 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9904,A/0.009585;Gene=CCDC85A/NM_001080433.1/1;CC=c.1573-722G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:33:0:0:15,22:450,717:41.29,0.00:27.08,0.00:14.20,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:37.2,5.7:0,0:0,0:25,48:116,98:13,36:NM_001080433.1(CCDC85A) c.1573-722G>A,-:0.01,-:NOT_FOUND,- 2 56610902 . T . . NT END=56611400;NT GT ./. 2 56611386 rs533200453 CT C 11 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=43;Gene=CCDC85A/NM_001080433.1/1;CC=c.1573-4delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:CT,I,C:47:38:5:5:38,4,5:1209,170,153:0.00,9.76,10.97:0.00,3.26,10.29:0.00,6.50,0.68:0.00,0.00,0.73:0.00,0.00,0.94:0.00,0.00,0.84:60,60,60:11.4,0.0,5.6:0,1,0:0,0,0:62,80,84:83,71,66:33,6,25:-,NM_001080433.1(CCDC85A) c.1573-14delT:-,NOT_FOUND:-,0.014554 2 56611491 . G . . NT END=58268185;NT GT ./. 2 56687254 rs1465361 C G 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.006589,G/0.9934 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:228:26.14:24.10:2.04:1.00:1.00:1.00:60:32.6:0:0:41:110:14:chr2 g.56687253C>G (intergenic),chr2 g.56687253C>G (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 56970815 rs76032304 A G,ATGTG 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=2;NP=5;NP=70;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:22:G,ATGTG:6:3:1:0:5,1:146,31:16.57,2.80:7.40,2.80:9.17,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:68.4,46.0:0,0:0,0:93,31:58,119:9,0:chr2 g.56970814A>G (intergenic),chr2 g.56970815_56970816insTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 57320755 rs374692631 TTG T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:TTG,T:4:4:0:2:2,2:54,66:0.00,6.35:0.00,4.61:0.00,1.74:0.00,0.51:0.00,0.51:0.00,0.67:60,60:16.5,0.0:0,0:0,0:33,38:112,69:27,6:-,chr2 g.57320756_57320757delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 57888128 rs71393596 T TACACACAC 19 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.484,TACAC/.,TACACAC/.,TACACACAC/0.516,TACACACACAC/.;NP=10;NP=4;NP=46;NP=9;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TACACACAC:5:3:6:0:5:192:18.69:9.40:9.30:0.99:1.00:1.00:70:5.0:1:0:72:78:12:chr2 g.57888128_57888129insACACACAC (intergenic),chr2 g.57888128_57888129insACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 58154133 rs57943937 T G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5313,G/0.4687;DB;DBA=NA;PAF=T/0.2923,TG/0.7077;DB;DBA=NA;PAF=NA;NP=162;NP=3;PC=0.089;Gene=VRK2/NM_001288837.1/0;CC=c.-557+19159T>G;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.-439+19159T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:G,T,I:5:5:1:0:3,1,1:97,36,28:10.07,0.00,2.48:8.29,0.00,2.48:1.78,0.00,0.00:0.78,0.00,0.00:0.78,0.00,0.00:0.73,0.00,0.00:60,60,60:70.3,0.0,129.0:2,0,0:0,0,0:43,132,40:107,19,110:22,0,0:chr2 g.58154132T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 58154249 rs2717014 T C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3518,C/0.6482;PC=0.041;Gene=VRK2/NM_001288837.1/0;CC=c.-557+19275T>C;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.-439+19275T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:1:0:0:3,1:105,32:10.95,0.00:1.93,0.00:9.03,0.00:0.85,0.00:0.83,0.00:0.85,0.00:60,60:46.0,0.0:0,0:0,0:121,126:29,14:1,0:chr2 g.58154248T>C (intergenic),-:0.66,-:NOT_FOUND,- 2 58268204 . C . . NT END=58273658;NT GT ./. 2 58273532 rs147967028 A T 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=21;Gene=VRK2/NM_001288837.1/0;CC=c.-5-2430A>T;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.-5-2430A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:29:0:0:15,14:470,423:0.00,40.22:0.00,40.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.3,44.4:0,0:0,0:47,26:103,124:29,15:-,NM_001130483.2(VRK2) c.-185-u245A>T:-,0.0027:-,NOT_FOUND 2 58274087 . C . . NT END=58274541;NT GT ./. 2 58274612 . T . . NT END=58275712;NT GT ./. 2 58275666 rs986512 G A 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.3097,A/0.6903;Gene=VRK2/NM_001288837.1/0;CC=c.-5-296G>A;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.-5-296G>A;VC=Intron;Gene=VRK2/NM_001130480.2/0;CC=c.-5-296G>A;VC=Intron;Gene=VRK2/NM_001130482.2/0;CC=c.-20-350G>A;VC=Intron;Gene=VRK2/NM_001130483.2/1;CC=c.-5-296G>A;VC=Intron;Gene=VRK2/NM_001288836.1/0;CC=c.-496-296G>A;VC=Intron;Gene=VRK2/NM_001288839.1/0;CC=c.-289-296G>A;VC=Intron;Gene=VRK2/NM_006296.6/0;CC=c.-5-296G>A;VC=Intron;Gene=VRK2/NM_001130481.2/0;CC=c.-5-296G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:34:0:0:18,21:586,634:55.54,0.00:45.05,0.00:10.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,15.6:0,0:0,0:42,46:101,97:29,30:NM_001130483.2(VRK2) c.-5-296G>A,-:0.71,-:NOT_FOUND,- 2 58275723 . G . . NT END=58275961;NT GT ./. 2 58276103 . G . . NT END=58311223;NT GT ./. 2 58276280 rs4672229 C A 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6571,A/0.3429;Gene=VRK2/NM_001288837.1/0;CC=c.136+178C>A;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.136+178C>A;VC=Intron;Gene=VRK2/NM_001130480.2/0;CC=c.136+178C>A;VC=Intron;Gene=VRK2/NM_001130482.2/0;CC=c.67+178C>A;VC=Intron;Gene=VRK2/NM_001130483.2/1;CC=c.136+178C>A;VC=Intron;Gene=VRK2/NM_001288836.1/0;CC=c.-356+178C>A;VC=Intron;Gene=VRK2/NM_001288839.1/0;CC=c.-149+178C>A;VC=Intron;Gene=VRK2/NM_006296.6/0;CC=c.136+178C>A;VC=Intron;Gene=VRK2/NM_001130481.2/0;CC=c.136+178C>A;VC=Intron;DM=VRK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:A,C:14:0:0:0:8,6:253,179:24.98,0.00:0.00,0.00:24.98,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.6,33.5:0,0:0,0:89,88:61,63:36,35:NM_001130483.2(VRK2) c.136+178C>A,-:0.39,-:NOT_FOUND,- 2 58311274 . G . . NT END=58312015;NT GT ./. 2 58312135 . G . . NT END=58313473;NT GT ./. 2 58313562 . G . . NT END=58315475;NT GT ./. 2 58315582 . G . . NT END=58316765;NT GT ./. 2 58316814 rs1051061 A G 52 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.6981,G/0.3019;PC=1.000;Gene=VRK2/NM_001288837.1/0;CC=c.499A>G;ProtCh=p.I167V;VC=Missense;Gene=VRK2/NM_001288838.1/0;CC=c.499A>G;ProtCh=p.I167V;VC=Missense;Gene=VRK2/NM_001130480.2/0;CC=c.499A>G;ProtCh=p.I167V;VC=Missense;Gene=VRK2/NM_001130482.2/0;CC=c.430A>G;ProtCh=p.I144V;VC=Missense;Gene=VRK2/NM_001130483.2/1;CC=c.499A>G;ProtCh=p.I167V;VC=Missense;Gene=VRK2/NM_001288836.1/0;CC=c.145A>G;ProtCh=p.I49V;VC=Missense;Gene=VRK2/NM_001288839.1/0;CC=c.145A>G;ProtCh=p.I49V;VC=Missense;Gene=VRK2/NM_006296.6/0;CC=c.499A>G;ProtCh=p.I167V;VC=Missense;Gene=VRK2/NM_001130481.2/0;CC=c.499A>G;ProtCh=p.I167V;VC=Missense;DM=VRK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:27:0:0:25,18:805,562:0.00,52.06:0.00,22.59:0.00,29.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,42.1:0,0:0,0:78,59:66,80:22,30:-,NM_001130483.2(VRK2) c.499A>G (p.Ile167Val):-,0.34:-,0.303417 2 58316859 . G . . NT END=58350235;NT GT ./. 2 58350369 . G . . NT END=58358942;NT GT ./. 2 58350504 rs7558007 A G 100 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.03794,G/0.9621;PC=0.019;Gene=VRK2/NM_001288837.1/0;CC=c.676+136A>G;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.676+136A>G;VC=Intron;Gene=VRK2/NM_001130480.2/0;CC=c.676+136A>G;VC=Intron;Gene=VRK2/NM_001130482.2/0;CC=c.607+136A>G;VC=Intron;Gene=VRK2/NM_001130483.2/1;CC=c.676+136A>G;VC=Intron;Gene=VRK2/NM_001288836.1/0;CC=c.322+136A>G;VC=Intron;Gene=VRK2/NM_001288839.1/0;CC=c.322+136A>G;VC=Intron;Gene=VRK2/NM_006296.6/0;CC=c.676+136A>G;VC=Intron;Gene=VRK2/NM_001130481.2/0;CC=c.676+136A>G;VC=Intron;DM=VRK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:1:0:0:27:869:99.77:1.89:97.88:1.00:1.00:1.00:60:44.0:0:0:94:57:39:NM_001130483.2(VRK2) c.676+136A>G,NM_001130483.2(VRK2) c.676+136A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 58350571 rs2043890 G A 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2554,A/0.7446;PC=0.241;Gene=VRK2/NM_001288837.1/0;CC=c.676+203G>A;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.676+203G>A;VC=Intron;Gene=VRK2/NM_001130480.2/0;CC=c.676+203G>A;VC=Intron;Gene=VRK2/NM_001130482.2/0;CC=c.607+203G>A;VC=Intron;Gene=VRK2/NM_001130483.2/1;CC=c.676+203G>A;VC=Intron;Gene=VRK2/NM_001288836.1/0;CC=c.322+203G>A;VC=Intron;Gene=VRK2/NM_001288839.1/0;CC=c.322+203G>A;VC=Intron;Gene=VRK2/NM_006296.6/0;CC=c.676+203G>A;VC=Intron;Gene=VRK2/NM_001130481.2/0;CC=c.676+203G>A;VC=Intron;DM=VRK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:13:0:0:0:8,5:265,163:26.55,0.00:0.00,0.00:26.55,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:70.4,27.0:0,0:0,0:91,114:58,37:23,26:NM_001130483.2(VRK2) c.676+203G>A,-:0.76,-:NOT_FOUND,- 2 58359064 . G . . NT END=58362275;NT GT ./. 2 58362161 rs11678320 G A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7057,A/0.2943;Gene=VRK2/NM_001288837.1/0;CC=c.798-115G>A;VC=Intron;Gene=VRK2/NM_001288838.1/0;CC=c.798-115G>A;VC=Intron;Gene=VRK2/NM_001130480.2/0;CC=c.798-115G>A;VC=Intron;Gene=VRK2/NM_001130482.2/0;CC=c.729-115G>A;VC=Intron;Gene=VRK2/NM_001130483.2/1;CC=c.798-115G>A;VC=Intron;Gene=VRK2/NM_001288836.1/0;CC=c.444-115G>A;VC=Intron;Gene=VRK2/NM_001288839.1/0;CC=c.444-115G>A;VC=Intron;Gene=VRK2/NM_006296.6/0;CC=c.798-115G>A;VC=Intron;Gene=VRK2/NM_001130481.2/0;CC=c.798-115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:16:15:0:0:6,10:197,345:17.97,0.00:14.82,0.00:3.15,0.00:0.95,0.00:1.00,0.00:0.67,0.00:60,60:36.5,4.5:0,0:0,0:54,56:96,94:31,27:NM_001130483.2(VRK2) c.798-115G>A,-:0.33,-:NOT_FOUND,- 2 58362335 . G . . NT END=58366800;NT GT ./. 2 58366968 . G . . NT END=58373450;NT GT ./. 2 58373610 . G . . NT END=58386483;NT GT ./. 2 58386829 . A . . NT END=58386899;NT GT ./. 2 58386936 . C . . NT END=58387074;NT GT ./. 2 58387315 . C . . NT END=58388656;NT GT ./. 2 58388696 rs848291 A G 56 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.2935,G/0.7065;PC=0.209;Gene=FANCL/NM_001114636.1/1;CC=c.996T>C;ProtCh=p.S332=;VC=Silent;Gene=FANCL/NM_018062.3/0;CC=c.981T>C;ProtCh=p.S327=;VC=Silent;DM=FANCL/FANCL_C;DM=FANCL/FANCL_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:28:0:0:16,19:534,574:0.00,55.94:0.00,36.60:0.00,19.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,31.5:0,0:0,0:37,48:110,91:20,31:-,NM_001114636.1(FANCL) c.996T>C (p.(=)):-,0.67:-,0.704091 2 58388774 . C . . NT END=58390000;NT GT ./. 2 58390083 . C . . NT END=58390163;NT GT ./. 2 58390210 . C . . NT END=58390568;NT GT ./. 2 58390218 . T TA 11 idl,rn VT=INS;SST=Single;DP=44;NP=19;PC=0.158;Gene=FANCL/NM_001114636.1/1;CC=c.791-10_791-9insT;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.776-10_776-9insT;VC=Intron;DM=FANCL/FANCL_C;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:T,TA,D:44:19:5:4:35,5,4:1040,150,133:0.00,10.84,9.60:0.00,2.31,3.83:0.00,8.53,5.77:0.00,0.75,0.00:0.00,0.81,0.00:0.00,0.97,0.00:60,60,60:12.0,8.2,9.8:0,0,0:0,0,0:73,90,94:58,61,56:30,24,22:-,NM_001114636.1(FANCL) c.791-10_791-9insT:-,NOT_FOUND:-,NOT_FOUND 2 58390653 . C . . NT END=58392858;NT GT ./. 2 58392789 rs848288 T C 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.7232,C/0.2768;Gene=FANCL/NM_001114636.1/1;CC=c.706+70A>G;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.691+70A>G;VC=Intron;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/FANCL_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:35:0:0:23,14:752,467:75.48,0.00:62.60,0.00:12.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,0.0:0,0:0,0:44,61:101,90:20,57:NM_001114636.1(FANCL) c.706+70A>G,-:0.26,-:NOT_FOUND,- 2 58392797 rs370127908 TTTA T 73 nt VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=TTTA/0.7476,T/0.2524;DB;DBA=NA;PAF=TTTA/0.7476,T/0.2524;NP=1826;PC=0.001;Gene=FANCL/NM_001114636.1/1;CC=c.706+59_706+61delTAA;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.691+59_691+61delTAA;VC=Intron;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/FANCL_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTA,T:37:32:0:23:14,23:438,724:0.00,72.73:0.00,59.96:0.00,12.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,35.7:0,0:0,0:53,53:97,93:41,19:-,NM_001114636.1(FANCL) c.706+59_706+61delTAA:-,0.24:-,NOT_FOUND 2 58393010 . C . . NT END=58425713;NT GT ./. 2 58425798 . C . . NT END=58431264;NT GT ./. 2 58431129 rs17049408 T C 12 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.9253,C/0.07468;Gene=FANCL/NM_001114636.1/1;CC=c.471+136A>G;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.471+136A>G;VC=Intron;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:10:10:0:0:4,6:126,208:11.59,0.00:11.59,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:31.5,0.0:0,0:0,0:10,21:141,128:2,14:NM_001114636.1(FANCL) c.471+136A>G,-:0.06,-:NOT_FOUND,- 2 58431362 . C . . NT END=58449076;NT GT ./. 2 58431446 rs62140045 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9249,C/0.07508;PC=0.972;Gene=FANCL/NM_001114636.1/1;CC=c.375-85A>G;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.375-85A>G;VC=Intron;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:18:1:0:0:6,12:181,351:15.99,0.00:-0.09,0.00:16.08,0.00:0.94,0.00:0.56,0.00:0.94,0.00:60,60:30.5,15.3:0,0:0,0:89,86:61,63:26,53:NM_001114636.1(FANCL) c.375-85A>G,-:0.06,-:NOT_FOUND,- 2 58431477 rs149883795 A AAATT 11 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9213,AAATT/0.07867;NP=15;PC=1.000;Gene=FANCL/NM_001114636.1/1;CC=c.375-117_375-116insAATT;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.375-117_375-116insAATT;VC=Intron;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,AAATT:13:0:4:0:9,4:287,127:0.00,11.12:0.00,0.00:0.00,11.12:0.00,0.79:0.00,0.00:0.00,0.79:60,60:18.1,33.0:1,0:0,0:98,102:53,49:18,15:-,NM_001114636.1(FANCL) c.375-117_375-116insAATT:-,0.06:-,NOT_FOUND 2 58449178 . C . . NT END=58453862;NT GT ./. 2 58453843 rs372101290 G GA 45 idl,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7404,GA/0.2596,GAA/.;NP=294;PC=0.637;Gene=FANCL/NM_001114636.1/1;CC=c.273+19dupT;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.273+19dupT;VC=Intron;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:37:36:17:4:19,15,3:617,546,99:0.00,45.23,7.33:0.00,25.48,6.27:0.00,19.75,1.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:17.4,10.7,3.3:0,2,0:0,0,0:56,56,89:68,91,61:41,31,19:-,NM_001114636.1(FANCL) c.273+19_273+20insT:-,NOT_FOUND:-,NOT_FOUND 2 58453920 . C . . NT END=58456948;NT GT ./. 2 58454060 rs17049422 C T 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9459,T/0.05411;Gene=FANCL/NM_001114636.1/1;CC=c.217-141G>A;VC=Intron;Gene=FANCL/NM_018062.3/0;CC=c.217-141G>A;VC=Intron;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3;DM=FANCL/WD-3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,T:11:1:0:0:5,6:128,206:0.00,20.19:0.00,1.76:0.00,18.43:0.00,0.98:0.00,0.70:0.00,0.98:60,60:2.0,42.7:0,0:0,0:108,74:43,71:8,31:-,NM_001114636.1(FANCL) c.217-141G>A:-,0.05:-,NOT_FOUND 2 58457010 . C . . NT END=58459188;NT GT ./. 2 58459248 . C . . NT END=58468352;NT GT ./. 2 58468449 . G . . NT END=60679699;NT GT ./. 2 58651948 rs10176211 A G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3534,G/0.6466 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:135:15.41:7.70:7.70:1.00:1.00:1.00:60:46.0:0:0:60:71:13:chr2 g.58651947A>G (intergenic),chr2 g.58651947A>G (intergenic):0.59,0.59:NOT_FOUND,NOT_FOUND 2 58687895 rs17399306 G A 95 nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.887,A/0.113;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:62:32:0:0:30,1,31:986,8,923:94.56,-0.12,0.00:39.64,0.02,0.00:54.92,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.3,61.0,10.6:0,0,0:0,0,0:100,135,89:48,16,62:27,0,25:chr2 g.58687894G>A (intergenic),-:0.1,-:NOT_FOUND,- 2 58688083 rs57292735 G A 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.8355,A/0.1645;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:5:0:0:13,12:418,411:40.48,0.00:11.06,0.00:29.43,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:64.6,8.5:0,0:0,0:72,50:79,100:33,37:chr2 g.58688082G>A (intergenic),-:0.14,-:NOT_FOUND,- 2 58688090 rs61432689 C G 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8804,G/0.1196,T/.;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:5:0:0:12,12:416,398:0.00,38.30:0.00,11.97:0.00,26.33:0.00,1.00:0.00,0.96:0.00,1.00:60,60:8.5,67.2:0,0:0,0:57,77:93,72:37,30:-,chr2 g.58688089C>G (intergenic):-,0.11:-,NOT_FOUND 2 58688845 rs56020523 T G 86 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.8804,G/0.1196;PC=0.988 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:60:37:0:0:29,31:907,1023:86.46,0.00:46.14,0.00:40.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,10.9:0,0:0,0:49,70:102,78:38,32:chr2 g.58688844T>G (intergenic),-:0.11,-:NOT_FOUND,- 2 59103170 . TTGTGTGTGTG T 6 nt VT=DEL;SST=Single;DP=4;NP=6;PC=0.037;Gene=LINC01122/NR_033873.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TTGTGTGTGTG,T:3:3:0:3:1,2:34,87:0.00,6.45:0.00,4.96:0.00,1.49:0.00,0.51:0.00,0.89:0.00,0.89:60,60:12.0,16.5:0,1:0,0:57,32:94,113:0,13:-,NR_033873.1(FLJ30838) n.424+25430_424+25439delTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 59446052 rs7592940 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.505,C/0.495;Gene=LOC101927285/NR_110219.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:4:4:0:0:2,2:69,67:6.65,0.00:3.02,0.00:3.63,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:34.5,6.5:0,0:0,0:40,39:94,111:22,8:chr2 g.59446051T>C (intergenic),-:0.47,-:NOT_FOUND,- 2 59883136 rs543694320 GGTGT G 9 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GGTGT/0.2608,G/0.7392;DB;DBA=NA;PAF=GGTGT/0.2608,G/0.7392;DB;DBA=NA;PAF=GGTGT/0.2608,G/0.7392;NP=192;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GGTGT,G:4:2:0:3:1,3:34,86:0.00,9.05:0.00,1.22:0.00,7.83:0.00,0.85:0.00,0.95:0.00,0.85:60,60:31.0,0.0:0,0:0,0:127,41:24,95:0,26:-,chr2 g.59883137_59883140delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 60009700 . AGT A 7 rn VT=DEL;SST=Single;DP=4;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:AGT,A:3:3:0:3:1,2:26,101:0.00,6.75:0.00,3.53:0.00,3.23:0.00,0.51:0.00,0.89:0.00,0.89:60,60:10.0,0.0:0,1:0,0:77,79:73,72:0,3:-,chr2 g.60009701_60009702delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 60048114 rs3982255 T TAC 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=3;NP=32;NP=41;NP=5;PC=0.017;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:T,TAC,D:5:3:2:1:2,2,1:41,67,28:0.00,6.42,2.39:0.00,1.47,1.19:0.00,4.95,1.19:0.00,0.46,0.00:0.00,0.80,0.00:0.00,0.87,0.00:60,60,60:57.0,6.0,149.0:0,0,0:0,0,0:51,40,22:98,94,129:33,31,0:-,chr2 g.60048114_60048115insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 60302663 rs71400231 G GCA 15 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=19;NP=21;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,GCA:7:5:5:0:2,5:72,145:0.00,15.06:0.00,8.41:0.00,6.65:0.00,0.98:0.00,1.00:0.00,0.99:60,70:4.0,18.0:0,0:0,0:106,48:42,102:22,20:-,chr2 g.60302663_60302664insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 60550741 . TGG T 9 nt VT=DEL;SST=Single;DP=6;NP=4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:TGG,T:6:6:0:4:3,3:95,94:0.00,9.02:0.00,4.51:0.00,4.51:0.00,0.73:0.00,0.73:0.00,0.73:60,60:63.7,45.0:0,0:0,0:87,93:64,25:14,11:-,chr2 g.60550742_60550743delGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 60597720 rs70957465 ACT A 8 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=94;PC=0.014;Gene=MIR4432HG/NR_132991/0;VC=NonCoding;Gene=MIR4432HG/NR_132992/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:ACT,A:8:6:0:4:5,3:143,85:0.00,7.64:0.00,2.64:0.00,4.99:0.00,0.67:0.00,0.93:0.00,0.90:60,70:34.6,68.3:0,0:0,0:79,78:41,60:50,1:-,chr2 g.60597721_60597722delCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 60679802 . C . . NT END=60684328;NT GT ./. 2 60679942 rs17331129 T C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8429,C/0.1571;Gene=BCL11A/NM_018014.3/1;CC=c.2231-141A>G;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.631-141A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,T:11:1:0:0:4,7:126,241:11.38,0.00:-0.20,0.00:11.57,0.00:0.82,0.00:0.58,0.00:0.98,0.00:60,60:31.5,11.4:0,0:0,0:99,79:48,72:30,17:NM_018014.3(BCL11A) c.2231-141A>G,-:0.17,-:NOT_FOUND,- 2 60684501 rs549234073 T TA 11 rn VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.9964,A/0.003594;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.2230+3315_2230+3316insT;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.631-4701_631-4700insT;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*3037_*3038insT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TA,D:64:44:6:2:56,6,2:1658,167,65:0.00,11.04,3.68:0.00,5.29,1.73:0.00,5.75,1.95:0.00,0.81,0.00:0.00,0.95,0.00:0.00,0.91,0.00:60,60,60:11.8,18.0,60.0:0,0,0:0,0,0:106,52,44:40,99,97:31,15,35:-,NM_018014.3(BCL11A) c.2230+3315_2230+3316insT:-,NOT_FOUND:-,NOT_FOUND 2 60684805 rs397868931 GT G 75 idl,rn VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=GT/0.8484,G/0.1516;DB;DBA=NA;PAF=NA;NP=103;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.2230+3011delA;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.630+4611delA;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*2733delA;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:69:41:7:29:37,5,27:966,223,873:0.00,11.13,74.74:0.00,5.82,37.34:0.00,5.32,37.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:35.1,122.8,51.6:1,2,2:0,0,0:93,40,84:49,111,63:37,29,33:-,NM_018014.3(BCL11A) c.2230+3011delA:-,NOT_FOUND:-,NOT_FOUND 2 60684836 . C T 7 sb VT=SNV;PN=T;NN=T;SST=Single;DP=55;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.2230+2981G>A;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.630+4581G>A;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*2703G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,T:55:30:0:0:45,10:1389,134:0.00,7.02:0.00,9.59:0.00,-2.57:0.00,0.99:0.00,0.99:0.00,0.99:60,60:37.9,80.0:0,0:0,0:56,76:78,73:45,20:-,NM_018014.3(BCL11A) c.2230+2981G>A:-,NOT_FOUND:-,NOT_FOUND 2 60685087 . CT C 17 idl,rn VT=DEL;SST=Single;DP=60;NP=2;PC=0.604;Gene=BCL11A/NM_018014.3/1;CC=c.2230+2729delA;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.630+4329delA;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*2451delA;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:CT,T,I,C:55:40:7:10:43,1,4,7:1341,27,203,292:0.00,1.10,7.44,17.00:0.00,-0.19,3.07,11.31:0.00,1.29,4.37,5.70:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.95:60,60,60,60:25.2,50.0,90.5,22.6:0,1,3,2:0,0,0,0:96,57,66,55:45,60,84,96:44,0,17,28:-,NM_018014.3(BCL11A) c.2230+2729delA:-,NOT_FOUND:-,NOT_FOUND 2 60685168 . C CT 11 rn VT=INS;SST=Single;DP=53;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.2230+2648dupA;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.630+4248dupA;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*2370dupA;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:C,T,CT:53:31:5:0:46,2,5:1424,22,158:0.00,-0.05,11.09:0.00,-0.09,3.14:0.00,0.04,7.95:0.00,0.00,0.71:0.00,0.00,0.88:0.00,0.00,0.89:60,60,60:15.5,122.0,7.0:0,0,0:0,0,0:64,76,112:86,71,21:42,56,22:-,NM_018014.3(BCL11A) c.2230+2648_2230+2649insA:-,NOT_FOUND:-,NOT_FOUND 2 60685409 . GT G 15 idl,rn VT=DEL;SST=Single;DP=66;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.2230+2407delA;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.630+4007delA;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*2129delA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:GT,I,G:66:50:4:7:55,4,7:1797,129,211:0.00,8.45,14.96:0.00,6.59,8.06:0.00,1.87,6.90:0.00,0.00,0.89:0.00,0.00,0.98:0.00,0.00,0.92:60,60,70:15.8,5.2,6.1:1,0,0:0,0,0:73,86,76:76,64,74:35,11,36:-,NM_018014.3(BCL11A) c.2230+2407delA:-,NOT_FOUND:-,NOT_FOUND 2 60685736 . G GT 28 idl,rn VT=INS;SST=Single;DP=71;NP=3;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.2230+2080dupA;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.630+3680dupA;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*1802dupA;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:71:35:11:5:55,11,5:1770,354,160:0.00,27.73,10.89:0.00,8.63,0.62:0.00,19.10,10.27:0.00,0.99,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:12.5,5.8,2.2:0,0,0:0,0,0:90,104,108:58,47,43:38,25,24:-,NM_018014.3(BCL11A) c.2230+2080_2230+2081insA:-,NOT_FOUND:-,NOT_FOUND 2 60687303 rs397872300 GA G 93 idl,rn VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.989;Gene=BCL11A/NM_018014.3/1;CC=c.2230+513delT;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.630+2113delT;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.*235delT;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:65:54:3:39:2,29,3,31:23,896,101,1155:0.28,0.00,6.87,93.01:-0.22,0.00,7.07,75.47:0.50,0.00,-0.20,17.53:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:74.0,22.0,0.0,20.3:0,0,0,6:0,0,0,0:102,101,108,75:48,40,42,73:14,38,19,27:-,NM_018014.3(BCL11A) c.2230+513delT:-,NOT_FOUND:-,NOT_FOUND 2 60687959 rs7569946 A G 671 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=A/0.1699,G/0.8301;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.2088T>C;ProtCh=p.S696=;VC=Silent;Gene=BCL11A/NM_138559.1/0;CC=c.630+1458T>C;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.2088T>C;ProtCh=p.S696=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:179:97:0:0:1,177,1:10,5893,9:0.00,671.30,0.05:0.00,277.47,0.05:0.00,393.83,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:19.0,42.8,34.0:0,0,0:0,0,0:112,86,105:38,58,46:0,36,0:NM_018014.3(BCL11A) c.2088T>C (p.(=)),NM_018014.3(BCL11A) c.2088T>C (p.(=)):0.8,0.8:0.712494,0.712494 2 60688968 . A G 7 sb VT=SNV;PN=G;NN=G;SST=Single;DP=65;PC=1.000;Gene=BCL11A/NM_018014.3/1;CC=c.1079T>C;ProtCh=p.L360P;VC=Missense;Gene=BCL11A/NM_138559.1/0;CC=c.630+449T>C;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.1079T>C;ProtCh=p.L360P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:65:47:0:0:56,9:1615,137:0.00,6.93:0.00,-2.11:0.00,9.03:0.00,0.97:0.00,0.99:0.00,0.93:60,60:17.1,90.6:0,0:0,0:75,63:73,46:34,28:-,NM_018014.3(BCL11A) c.1079T>C (p.Leu360Pro):-,NOT_FOUND:-,NOT_FOUND 2 60689560 . C . . NT END=60695866;NT GT ./. 2 60689748 rs9789627 A G 180 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.2817,G/0.7183;Gene=BCL11A/NM_018014.3/1;CC=c.488-189T>C;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.488-189T>C;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.488-189T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:2:0:0:48:1567:179.54:3.93:175.61:1.00:1.00:1.00:60:42.2:0:0:116:32:22:NM_018014.3(BCL11A) c.488-189T>C,NM_018014.3(BCL11A) c.488-189T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 60695969 . C . . NT END=60773105;NT GT ./. 2 60768081 . T TTGTG 10 rn VT=INS;SST=Single;DP=4;NP=1;NP=4;PC=0.069;Gene=BCL11A/NM_018014.3/1;CC=c.385+5024_385+5025insCACA;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.385+5024_385+5025insCACA;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.385+5024_385+5025insCACA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TTGTG:4:4:3:0:1,3:33,92:0.00,9.65:0.00,6.20:0.00,3.45:0.00,0.85:0.00,0.85:0.00,0.99:60,60:8.0,16.7:0,0:0,0:16,68:94,63:0,14:-,NM_018014.3(BCL11A) c.385+5024_385+5025insCACA:-,NOT_FOUND:-,NOT_FOUND 2 60773436 . C . . NT END=60780350;NT GT ./. 2 60773687 rs71875672 AAC A 17 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=AAC/0.4113,A/0.5887;DB;DBA=NA;PAF=AAC/0.4113,A/0.5887;NP=16;PC=0.053;Gene=BCL11A/NM_018014.3/1;CC=c.56-254_56-253delGT;VC=Intron;Gene=BCL11A/NM_138559.1/0;CC=c.56-254_56-253delGT;VC=Intron;Gene=BCL11A/NM_022893.3/0;CC=c.56-254_56-253delGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:AAC,A:6:0:0:6:1,5:19,193:0.00,16.91:0.00,0.00:0.00,16.91:0.00,0.98:0.00,0.00:0.00,0.98:60,60:60.0,8.8:1,1:0,0:28,89:123,52:0,10:-,NM_018014.3(BCL11A) c.56-254_56-253delGT:-,0.59:-,NOT_FOUND 2 60780406 . G . . NT END=60983613;NT GT ./. 2 60879529 rs200551220 TACAC T 19 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=45;PC=0.004;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TACAC,T:9:8:0:8:3,6:102,188:0.00,19.17:0.00,9.64:0.00,9.54:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,18.3:0,0:0,0:116,63:31,83:5,11:-,chr2 g.60879530_60879533delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 60962118 rs3796068 T C 98 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.645,C/0.355;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:32:0:0:29,20:982,662:97.63,0.00:39.21,0.00:58.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,5.7:0,0:0,0:88,87:63,59:40,33:chr2 g.60962117T>C (intergenic),-:0.39,-:NOT_FOUND,- 2 60962303 rs3796067 T C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.646,C/0.354 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:5:0:0:7,8:196,256:18.42,0.00:7.61,0.00:10.81,0.00:0.99,0.00:0.95,0.00:1.00,0.00:60,60:49.7,20.1:0,0:0,0:78,73:72,77:21,30:chr2 g.60962302T>C (intergenic),-:0.39,-:NOT_FOUND,- 2 60962423 rs12713426 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6458,C/0.3542 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,C,T:14:11:0:0:1,8,5:11,244,162:0.37,24.43,0.00:-0.11,17.86,0.00:0.48,6.57,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:113.0,44.5,8.6:0,0,0:0,0,0:39,75,60:111,75,91:0,33,24:chr2 g.60962422T>C (intergenic),-:0.39,-:NOT_FOUND,- 2 60962589 rs11692811 T C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6494,C/0.3506;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:13:0:0:8,16:272,523:24.38,0.00:4.88,0.00:19.50,0.00:0.99,0.00:0.99,0.00:0.94,0.00:60,60:34.0,11.9:0,0:0,0:113,92:37,58:23,35:chr2 g.60962588T>C (intergenic),-:0.39,-:NOT_FOUND,- 2 60962833 rs34405203 G A 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.643,A/0.357;PC=0.229 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:11:0:0:9,14:302,417:27.84,0.00:9.62,0.00:18.22,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:47.7,17.9:0,0:0,0:83,115:67,36:36,26:chr2 g.60962832G>A (intergenic),-:0.39,-:NOT_FOUND,- 2 60962949 rs34443559 A C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6014,C/0.3986;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:A,C:11:4:0:0:6,5:181,145:0.00,13.59:0.00,6.01:0.00,7.59:0.00,0.93:0.00,0.91:0.00,0.99:60,60:19.2,65.6:0,0:0,0:84,84:66,50:24,25:-,chr2 g.60962948A>C (intergenic):-,0.42:-,NOT_FOUND 2 60963010 rs35796883 G T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6438,T/0.3562;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:G,T:7:2:0:0:4,3:102,78:0.00,7.15:0.00,0.95:0.00,6.20:0.00,0.69:0.00,0.73:0.00,0.93:60,60:11.0,81.3:0,0:0,0:120,130:30,6:7,10:-,chr2 g.60963009G>T (intergenic):-,0.38:-,NOT_FOUND 2 60983631 . G . . NT END=60987232;NT GT ./. 2 60987431 . G . . NT END=60988839;NT GT ./. 2 60988943 . G . . NT END=60995568;NT GT ./. 2 60995687 . G . . NT END=60995879;NT GT ./. 2 60996026 . G . . NT END=60997556;NT GT ./. 2 60997647 . G . . NT END=60998617;NT GT ./. 2 60997770 rs112377548 T A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6042,A/0.3958;DB;DBA=NA;PAF=NA;Gene=PAPOLG/NM_022894.3/1;CC=c.492+124T>A;VC=Intron;DM=PAPOLG/PAP_central;DM=PAPOLG/NTP_transf_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:A,T,I:11:0:1:0:5,5,1:156,161,32:14.96,0.00,2.43:0.00,0.00,0.00:14.96,0.00,2.43:0.93,0.00,0.00:0.00,0.00,0.00:0.93,0.00,0.00:60,60,60:47.2,16.0,0.0:0,0,0:0,0,0:141,120,142:10,31,8:7,13,0:NM_022894.3(PAPOLG) c.492+124T>A,-:0.42,-:NOT_FOUND,- 2 60998766 . G . . NT END=61002132;NT GT ./. 2 61002259 . G . . NT END=61006735;NT GT ./. 2 61006707 . G GA 6 rn VT=INS;SST=Single;DP=39;PC=0.001;Gene=PAPOLG/NM_022894.3/1;CC=c.695-56dupA;VC=Intron;DM=PAPOLG/PAP_central;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:G,GA:39:33:3:0:36,3:1153,96:0.00,6.44:0.00,4.06:0.00,2.38:0.00,0.38:0.00,0.82:0.00,0.65:60,60:8.9,7.0:0,0:0,0:37,82:91,69:22,50:-,NM_022894.3(PAPOLG) c.695-65_695-64insA:-,NOT_FOUND:-,NOT_FOUND 2 61006911 . G . . NT END=61007805;NT GT ./. 2 61007782 rs10496089 A G 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.3011,G/0.6989;Gene=PAPOLG/NM_022894.3/1;CC=c.834-60A>G;VC=Intron;DM=PAPOLG/PAP_central GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:32:0:0:15,21:486,688:0.00,68.17:0.00,44.30:0.00,23.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,40.4:0,0:0,0:60,37:90,112:15,12:-,NM_022894.3(PAPOLG) c.834-60A>G:-,0.69:-,0.717696 2 61007915 . G . . NT END=61008983;NT GT ./. 2 61008036 rs3845814 C T 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.00639,T/0.9936;Gene=PAPOLG/NM_022894.3/1;CC=c.906+122C>T;VC=Intron;DM=PAPOLG/PAP_central GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:369:42.15:0.00:42.15:1.00:0.00:1.00:60:34.2:0:0:94:57:33:NM_022894.3(PAPOLG) c.906+122C>T,NM_022894.3(PAPOLG) c.906+122C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 61009141 . G . . NT END=61009784;NT GT ./. 2 61009549 rs13417624 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7965,A/0.2035;Gene=PAPOLG/NM_022894.3/1;CC=c.1028-272G>A;VC=Intron;DM=PAPOLG/PAP_central GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:10:9:0:0:7,3:188,89:19.40,0.00:17.08,0.00:2.32,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:83.6,33.3:0,0:0,0:88,59:63,92:22,59:NM_022894.3(PAPOLG) c.1028-272G>A,-:0.2,-:NOT_FOUND,- 2 61009590 rs13005859 C G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6002,G/0.3998;Gene=PAPOLG/NM_022894.3/1;CC=c.1028-231C>G;VC=Intron;DM=PAPOLG/PAP_central GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,G:14:13:0:0:6,8:184,213:0.00,20.91:0.00,17.48:0.00,3.43:0.00,1.00:0.00,1.00:0.00,0.71:60,60:6.7,74.5:0,0:0,0:29,96:121,54:13,34:-,NM_022894.3(PAPOLG) c.1028-231C>G:-,0.43:-,NOT_FOUND 2 61009699 rs397870480 GA G 81 idl,rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=GA/0.2754,G/0.7246;DB;DBA=NA;PAF=GA/0.2754,G/0.7246;NP=559;PC=0.001;Gene=PAPOLG/NM_022894.3/1;CC=c.1028-111delA;VC=Intron;DM=PAPOLG/PAP_central;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:57:52:3:28:4,24,3,26:97,774,100,867:6.34,0.00,7.03,80.55:0.74,0.00,5.87,65.44:5.60,0.00,1.15,15.11:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:114.5,17.4,9.0,10.8:1,0,0,1:0,0,0,0:7,36,119,21:124,111,32,114:3,33,11,17:-,NM_022894.3(PAPOLG) c.1028-121delA:-,NOT_FOUND:-,NOT_FOUND 2 61009813 rs74492547 T TTA 23 idl VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.8283,TA/0.1717,TTA/.,TTTA/.;DB;DBA=NA;PAF=NA;Gene=PAPOLG/NM_022894.3/1;CC=c.1028-8_1028-7insTA;VC=Intron;DM=PAPOLG/PAP_central;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,T,TTA:65:41:15:0:7,48,10:234,1506,462:17.55,0.00,23.43:1.65,0.00,5.38:15.90,0.00,18.05:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,1.00:60,70,60:66.7,38.3,55.6:0,1,5:0,0,0:32,105,98:117,20,53:17,16,35:-,NM_022894.3(PAPOLG) c.1028-8_1028-7insTA:-,NOT_FOUND:-,NOT_FOUND 2 61009906 . G . . NT END=61010254;NT GT ./. 2 61009909 rs10197672 C T 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.5649,T/0.4351;PC=0.999;Gene=PAPOLG/NM_022894.3/1;CC=c.1112+4C>T;VC=Intron;DM=PAPOLG/PAP_RNA-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:17:0:0:28,33:765,1105:0.00,108.04:0.00,23.28:0.00,84.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.6,51.1:0,0:0,0:97,96:53,53:25,20:-,NM_022894.3(PAPOLG) c.1112+4C>T:-,0.46:-,0.544084 2 61009938 rs139543059 AT A 17 rn VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=269;PC=0.006;Gene=PAPOLG/NM_022894.3/1;CC=c.1112+46delT;VC=Intron;DM=PAPOLG/PAP_RNA-bind;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:AT,I,A:47:14:2:7:38,2,7:1223,53,223:0.00,2.81,17.19:0.00,-0.15,5.49:0.00,2.97,11.70:0.00,0.00,0.93:0.00,0.00,0.83:0.00,0.00,0.99:60,60,60:36.2,23.0,19.7:0,0,0:0,0,0:110,55,102:40,93,49:20,36,21:-,NM_022894.3(PAPOLG) c.1112+34delT:-,NOT_FOUND:-,NOT_FOUND 2 61010345 . G . . NT END=61014045;NT GT ./. 2 61014202 . G . . NT END=61014609;NT GT ./. 2 61014756 . G . . NT END=61018859;NT GT ./. 2 61014952 rs4672404 A G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.3838,G/0.6162;PC=0.001;Gene=PAPOLG/NM_022894.3/1;CC=c.1396+197A>G;VC=Intron;DM=PAPOLG/PAP_RNA-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:12:1:0:0:6,6:212,188:0.00,18.05:0.00,-0.15:0.00,18.20:0.00,0.98:0.00,0.67:0.00,0.98:60,60:4.7,45.3:0,0:0,0:76,115:75,35:22,8:-,NM_022894.3(PAPOLG) c.1396+197A>G:-,0.58:-,NOT_FOUND 2 61018788 rs11695223 C T 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.6881,T/0.3119;Gene=PAPOLG/NM_022894.3/1;CC=c.1397-108C>T;VC=Intron;DM=PAPOLG/PAP_RNA-bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:34:0:0:15,20:435,652:0.00,64.37:0.00,56.20:0.00,8.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,39.0:0,0:0,0:48,32:103,115:27,16:-,NM_022894.3(PAPOLG) c.1397-108C>T:-,0.33:-,NOT_FOUND 2 61019018 . G . . NT END=61019227;NT GT ./. 2 61019425 . G . . NT END=61020725;NT GT ./. 2 61020553 rs10084353 A G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6,G/0.4;PC=0.022;Gene=PAPOLG/NM_022894.3/1;CC=c.1680-209A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:15:0:0:10,6:308,208:0.00,19.08:0.00,19.28:0.00,-0.20:0.00,0.95:0.00,1.00:0.00,0.58:60,60:18.9,46.2:0,0:0,0:43,51:103,100:17,11:-,NM_022894.3(PAPOLG) c.1680-209A>G:-,0.43:-,NOT_FOUND 2 61020851 . G . . NT END=61021069;NT GT ./. 2 61021327 . G . . NT END=61021808;NT GT ./. 2 61021349 rs11125855 A G 109 nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.5964,G/0.4036;PC=0.802;Gene=PAPOLG/NM_022894.3/1;CC=c.1989+23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:29:0:0:23,32:734,1101:0.00,109.17:0.00,40.30:0.00,68.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,35.6:0,0:0,0:84,97:62,30:31,32:-,NM_022894.3(PAPOLG) c.1989+23A>G:-,0.44:-,0.514459 2 61021911 . G . . NT END=61022062;NT GT ./. 2 61022156 . G . . NT END=61024160;NT GT ./. 2 61023978 rs11890393 C T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8011,T/0.1989;Gene=PAPOLG/NM_022894.3/1;CC=c.2113-219C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,T:5:5:0:0:1,4:29,133:0.00,14.12:0.00,14.12:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,50.2:0,0:0,0:51,67:100,82:0,26:-,NM_022894.3(PAPOLG) c.2113-219C>T:-,0.2:-,NOT_FOUND 2 61024048 rs13398594 G A 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8137,A/0.1863;Gene=PAPOLG/NM_022894.3/1;CC=c.2113-149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:15:14:0:0:12,3:389,98:41.36,0.00:37.58,0.00:3.78,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,60:44.1,0.0:0,0:0,0:30,11:121,140:12,0:NM_022894.3(PAPOLG) c.2113-149G>A,-:0.17,-:NOT_FOUND,- 2 61024296 . A . . NT END=61108975;NT GT ./. 2 61108829 rs67574266 G A 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8688,A/0.1312;PC=1.000;Gene=REL/NM_001291746.1/0;CC=c.-147G>A;VC=5UTR;Gene=REL/NM_002908.3/1;CC=c.-147G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:20:0:0:14,7:416,226:42.45,0.00:36.97,0.00:5.49,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:31.8,2.4:0,0:0,0:19,50:130,101:13,41:NM_002908.2(REL) c.-147G>A,-:0.18,-:NOT_FOUND,- 2 61108986 . G . . NT END=61118817;NT GT ./. 2 61118961 . G . . NT END=61121531;NT GT ./. 2 61121492 rs842644 G A 132 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.02456,A/0.9754;Gene=REL/NM_001291746.1/0;CC=c.154-40G>A;VC=Intron;Gene=REL/NM_002908.3/1;CC=c.154-40G>A;VC=Intron;DM=REL/RHD_DNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:34:0:0:36:1153:132.43:109.77:22.66:1.00:1.00:1.00:60:40.4:0:0:47:103:28:NM_002908.2(REL) c.154-40G>A,NM_002908.2(REL) c.154-40G>A:0.97,0.97:0.963362,0.963362 2 61121681 . G . . NT END=61128126;NT GT ./. 2 61128219 . G . . NT END=61144011;NT GT ./. 2 61128284 rs2115592 T C 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5539,C/0.4461;PC=0.001;Gene=REL/NM_001291746.1/0;CC=c.394+66T>C;VC=Intron;Gene=REL/NM_002908.3/1;CC=c.394+66T>C;VC=Intron;DM=REL/RHD_DNA_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:C,T:13:4:0:0:5,8:140,243:12.62,0.00:1.26,0.00:11.36,0.00:0.91,0.00:0.86,0.00:0.99,0.00:60,60:83.0,19.5:2,3:0,0:96,108:55,24:32,23:NM_002908.2(REL) c.394+66T>C,-:0.52,-:NOT_FOUND,- 2 61144153 . G . . NT END=61145325;NT GT ./. 2 61145431 . G . . NT END=61145528;NT GT ./. 2 61145498 rs149570046 AT A 17 idl,rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=176;Gene=REL/NM_001291746.1/0;CC=c.641-18delT;VC=Intron;Gene=REL/NM_002908.3/1;CC=c.641-18delT;VC=Intron;DM=REL/RHD_dimer;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:AT,I,A:51:47:8:11:39,5,7:1203,232,317:0.00,10.18,16.66:0.00,6.71,10.21:0.00,3.47,6.45:0.00,0.00,0.91:0.00,0.00,0.99:0.00,0.00,0.89:60,60,60:22.6,78.6,43.7:0,3,3:0,0,0:69,49,59:82,102,91:35,16,36:-,NM_002908.2(REL) c.641-30delT:-,NOT_FOUND:-,NOT_FOUND 2 61145742 . G . . NT END=61147175;NT GT ./. 2 61147245 . G . . NT END=61147708;NT GT ./. 2 61147778 . G . . NT END=61148897;NT GT ./. 2 61149919 . c . . NT END=61169529;NT GT ./. 2 61165289 . TTG T 7 end,rn VT=DEL;SST=Single;DP=4;NP=240;PC=0.005;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:TTG,T:4:4:0:3:1,3:19,71:0.00,7.30:0.00,5.43:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,0.0:0,0:0,0:143,9:8,141:0,3:-,chr2 g.61165290_61165291delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 61169569 . C . . NT END=61171328;NT GT ./. 2 61171262 rs386390296 C CA 13 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8381,CA/0.1619;DB;DBA=NA;PAF=C/0.8381,CA/0.1619;NP=92;PC=0.050;Gene=PUS10/NM_144709.2/1;CC=c.1551+881_1551+882insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T,CA,D:21:21:5:3:13,1,5,2:429,9,157,101:0.00,0.02,13.42,5.14:0.00,-0.20,13.75,3.89:0.00,0.22,-0.34,1.24:0.00,0.00,0.84,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.83,0.00:60,60,60,60:8.7,139.0,31.4,0.0:0,0,0,1:0,0,0,0:57,26,92,89:94,115,59,62:48,0,10,0:-,NM_144709.2(PUS10) c.1551+881_1551+882insT:-,NOT_FOUND:-,NOT_FOUND 2 61171397 . T . . NT END=61172143;NT GT ./. 2 61171877 rs11125859 G T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7254,T/0.2746;PC=0.015;Gene=PUS10/NM_144709.2/1;CC=c.1551+267C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,T:4:4:0:0:2,2:31,69:0.00,6.71:0.00,6.71:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:6.5,34.5:0,0:0,0:13,43:135,107:12,39:-,NM_144709.2(PUS10) c.1551+267C>A:-,0.33:-,NOT_FOUND 2 61172244 . C . . NT END=61175177;NT GT ./. 2 61174963 . CA C 7 rn VT=DEL;SST=Single;DP=4;Gene=PUS10/NM_144709.2/1;CC=c.1451+214delT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CA,C:3:4:0:3:1,2:34,98:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:128.0,23.0:0,1:0,0:25,41:126,110:0,7:-,NM_144709.2(PUS10) c.1451+214delT:-,NOT_FOUND:-,NOT_FOUND 2 61175312 rs12479056 T C 76 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.5445,C/0.4555;PC=0.973;Gene=PUS10/NM_144709.2/1;CC=c.1317A>G;ProtCh=p.K439=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:36:0:0:25,39:827,1197:76.04,0.00:23.91,0.00:52.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,9.8:0,0:0,0:64,92:77,53:30,34:NM_144709.2(PUS10) c.1317A>G (p.(=)),-:0.51,-:0.653083,- 2 61175321 . C . . NT END=61180131;NT GT ./. 2 61180250 . C . . NT END=61181067;NT GT ./. 2 61180288 rs76770165 C T 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9323,T/0.06769;Gene=PUS10/NM_144709.2/1;CC=c.1191-39G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:7:0:0:15,16:504,473:0.00,45.55:0.00,3.86:0.00,41.69:0.00,1.00:0.00,0.99:0.00,1.00:60,60:1.4,33.3:0,0:0,0:108,121:42,30:39,22:-,NM_144709.2(PUS10) c.1191-39G>A:-,0.09:-,0.13298 2 61181124 . C . . NT END=61181216;NT GT ./. 2 61181294 . C . . NT END=61182152;NT GT ./. 2 61182210 . C . . NT END=61187526;NT GT ./. 2 61187415 rs67927699 G C 51 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7496,C/0.2504;Gene=PUS10/NM_144709.2/1;CC=c.1000+112C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:29:29:0:0:15,14:530,436:51.45,0.00:49.71,0.00:1.74,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:52.3,8.9:0,0:0,0:71,65:79,84:35,31:NM_144709.2(PUS10) c.1000+112C>G,-:0.29,-:NOT_FOUND,- 2 61187478 . C CA 51 idl,rn VT=INS;SST=Single;DP=45;NP=3;PC=0.001;Gene=PUS10/NM_144709.2/1;CC=c.1000+48_1000+49insT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:37:42:19:9:17,17,3:552,595,297:0.00,50.82,7.30:0.00,46.08,-0.46:0.00,4.74,7.76:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:35.1,25.5,18.0:0,2,6:0,0,0:99,54,53:18,88,88:44,35,31:-,NM_144709.2(PUS10) c.1000+48_1000+49insT:-,NOT_FOUND:-,NOT_FOUND 2 61187653 . C . . NT END=61188597;NT GT ./. 2 61188684 . C . . NT END=61189960;NT GT ./. 2 61190026 . C . . NT END=61192192;NT GT ./. 2 61191995 rs55776317 G C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7442,C/0.2558;PC=0.002;Gene=PUS10/NM_144709.2/1;CC=c.723+198C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:6:6:0:0:3,3:103,102:9.93,0.00:9.93,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:46.0,0.0:0,0:0,0:47,44:104,106:26,17:NM_144709.2(PUS10) c.723+198C>G,-:0.29,-:NOT_FOUND,- 2 61192239 . C . . NT END=61192557;NT GT ./. 2 61192620 . C . . NT END=61194636;NT GT ./. 2 61194749 . C . . NT END=61198657;NT GT ./. 2 61198693 . C . . NT END=61233691;NT GT ./. 2 61233779 . C . . NT END=61235895;NT GT ./. 2 61235855 rs1182688 C A 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.6793,A/0.3207;Gene=PUS10/NM_144709.2/1;CC=c.381+41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:24:0:0:17,12:511,382:50.62,0.00:37.41,0.00:13.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,4.1:0,0:0,0:49,36:101,114:30,18:NM_144709.2(PUS10) c.381+41G>T,-:0.37,-:0.311675,- 2 61236151 . C . . NT END=61238899;NT GT ./. 2 61238871 rs560397854 G GA 13 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.015;Gene=PUS10/NM_144709.2/1;CC=c.126+28_126+29insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GA,D:23:21:5:5:14,5,4:417,157,163:0.00,13.26,10.69:0.00,13.62,10.97:0.00,-0.35,-0.28:0.00,0.83,0.00:0.00,0.98,0.00:0.00,0.61,0.00:60,60,60:22.9,31.6,14.5:0,0,1:0,0,0:52,39,75:82,101,76:31,28,34:-,NM_144709.2(PUS10) c.126+28_126+29insT:-,NOT_FOUND:-,NOT_FOUND 2 61239026 . A . . NT END=61244894;NT GT ./. 2 61244987 . G . . NT END=61258553;NT GT ./. 2 61259249 . G . . NT END=61272860;NT GT ./. 2 61272779 rs112402825 G A 79 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.993,A/0.006989;Gene=PEX13/NM_002618.3/1;CC=c.788-82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:37:0:0:25,12:776,379:79.36,0.00:68.83,0.00:10.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,19.0:0,0:0,0:67,69:84,81:37,30:NM_002618.3(PEX13) c.788-82G>A,-:0.01,-:NOT_FOUND,- 2 61272987 . G . . NT END=61275606;NT GT ./. 2 61275504 rs113595354 T C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9932,C/0.006789;NP=82;Gene=PEX13/NM_002618.3/1;CC=c.914-103T>C;VC=Intron;DM=PEX13/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:14,12:467,403:45.58,0.00:42.54,0.00:3.04,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:33.4,0.0:0,0:0,0:43,60:106,89:27,43:NM_002618.3(PEX13) c.914-103T>C,-:0.01,-:NOT_FOUND,- 2 61275906 . T . . NT END=61297485;NT GT ./. 2 61297636 . G . . NT END=61298740;NT GT ./. 2 61298928 . G . . NT END=61300592;NT GT ./. 2 61300556 . C CT 8 rn VT=INS;SST=Single;DP=16;NP=2;Gene=KIAA1841/NM_001129993.1/1;CC=c.338-26dupT;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.338-26dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,CT,D:16:16:3:1:12,3,1:389,97,32:0.00,7.87,2.14:0.00,8.05,2.19:0.00,-0.18,-0.06:0.00,0.54,0.00:0.00,0.54,0.00:0.00,0.57,0.00:60,60,60:11.4,24.7,49.0:0,0,0:0,0,0:101,80,31:49,71,119:33,8,0:-,NM_001129993.1(KIAA1841) c.338-37_338-36insT:-,NOT_FOUND:-,NOT_FOUND 2 61300687 . G . . NT END=61304054;NT GT ./. 2 61304002 rs1729657 A G 71 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.3828,G/0.6172;Gene=KIAA1841/NM_001129993.1/1;CC=c.432-53A>G;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.432-53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:35:0:0:12,23:383,700:0.00,71.17:0.00,60.45:0.00,10.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,39.4:0,0:0,0:60,29:90,119:31,24:-,NM_001129993.1(KIAA1841) c.432-53A>G:-,0.65:-,NOT_FOUND 2 61304271 rs1729659 A G 62 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.6542,G/0.3458;PC=0.998;Gene=KIAA1841/NM_001129993.1/1;CC=c.648A>G;ProtCh=p.K216=;VC=Silent;Gene=KIAA1841/NM_032506.2/0;CC=c.648A>G;ProtCh=p.K216=;VC=Silent;DM=KIAA1841/DUF3342 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:40:17:0:0:19,20,1:655,643,10:0.00,62.06,0.01:0.00,23.04,-0.06:0.00,39.02,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.5,38.6,63.0:0,0,0:0,0,0:101,92,98:50,59,16:25,22,0:-,NM_001129993.1(KIAA1841) c.648A>G (p.(=)):-,0.38:-,0.349147 2 61304294 . G . . NT END=61308586;NT GT ./. 2 61308517 rs1177295 A G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4067,G/0.5933;PC=0.373;Gene=KIAA1841/NM_001129993.1/1;CC=c.671-70A>G;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.671-70A>G;VC=Intron;DM=KIAA1841/DUF3342 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:19:0:0:13,9:368,285:0.00,26.33:0.00,21.84:0.00,4.49:0.00,1.00:0.00,1.00:0.00,0.96:60,60:42.2,44.2:0,0:0,0:22,60:124,90:17,29:-,NM_001129993.1(KIAA1841) c.671-70A>G:-,0.64:-,0.650528 2 61308569 . AT A 11 idl,rn VT=DEL;SST=Single;DP=43;NP=123;Gene=KIAA1841/NM_001129993.1/1;CC=c.671-3delT;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.671-3delT;VC=Intron;DM=KIAA1841/DUF3342;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:AT,I,A:36:38:8:9:26,5,5:789,239,280:0.00,11.02,11.33:0.00,10.83,6.10:0.00,0.19,5.23:0.00,0.00,0.75:0.00,0.00,0.96:0.00,0.00,0.89:60,60,60:37.6,69.2,48.0:0,3,4:0,0,0:53,52,42:70,83,91:37,13,28:-,NM_001129993.1(KIAA1841) c.671-17delT:-,NOT_FOUND:-,NOT_FOUND 2 61308646 . G . . NT END=61310288;NT GT ./. 2 61310450 . G . . NT END=61315293;NT GT ./. 2 61315381 . G . . NT END=61315492;NT GT ./. 2 61315642 . a . . NT END=61315933;NT GT ./. 2 61316386 . c . . NT END=61319598;NT GT ./. 2 61316509 rs1186180 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3844,C/0.6156;Gene=KIAA1841/NM_001129993.1/1;CC=c.1088+906T>C;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.1088+906T>C;VC=Intron;DM=KIAA1841/DUF3342 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:8:0:0:0:5,3:146,77:14.70,0.00:0.00,0.00:14.70,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:41.0,56.0:0,0:0,0:125,116:26,34:3,30:NM_001129993.1(KIAA1841) c.1088+906T>C,-:0.65,-:NOT_FOUND,- 2 61319723 . G . . NT END=61321173;NT GT ./. 2 61319728 rs369817534 A AT 17 idl,rn VT=INS;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.9599,AT/0.04014;NP=68;PC=0.002;Gene=KIAA1841/NM_001129993.1/1;CC=c.1212+17dupT;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.1212+17dupT;VC=Intron;DM=KIAA1841/DUF3342;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,AT,D:77:38:7:5:65,7,5:2040,232,154:0.00,16.57,9.97:0.00,4.55,3.77:0.00,12.02,6.19:0.00,0.88,0.00:0.00,0.91,0.00:0.00,0.99,0.00:60,60,60:6.8,0.0,2.4:0,0,0:0,0,0:90,80,114:60,69,35:19,36,11:-,NM_001129993.1(KIAA1841) c.1212+6_1212+7insT:-,NOT_FOUND:-,NOT_FOUND 2 61321264 . t . . NT END=61324834;NT GT ./. 2 61324824 rs373796692 G T 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=8;PC=0.003;Gene=KIAA1841/NM_001129993.1/1;CC=c.1213-11G>T;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.1213-11G>T;VC=Intron;DM=KIAA1841/DUF3342 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:27:0:0:17,11:595,353:0.00,32.40:0.00,22.52:0.00,9.88:0.00,1.00:0.00,1.00:0.00,0.98:60,60:2.4,33.1:0,0:0,0:79,61:71,90:28,32:-,NM_001129993.1(KIAA1841) c.1213-11G>T:-,NOT_FOUND:-,0.000846 2 61324988 . G . . NT END=61330987;NT GT ./. 2 61331134 . G . . NT END=61333697;NT GT ./. 2 61331376 rs1627608 C T 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5933,G/.,T/0.4067;Gene=KIAA1841/NM_001129993.1/1;CC=c.1511+243C>T;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.1511+243C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:9:1:0:0:3,6:71,197:0.00,20.16:0.00,3.70:0.00,16.46:0.00,0.99:0.00,0.78:0.00,1.00:60,60:0.0,46.2:0,0:0,0:13,124:138,26:2,11:-,NM_001129993.1(KIAA1841) c.1511+243C>T:-,0.45:-,NOT_FOUND 2 61333525 rs397984740 CA C 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.007;Gene=KIAA1841/NM_001129993.1/1;CC=c.1512-149delA;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.1512-149delA;VC=Intron;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CA,C:6:6:0:3:3,3:71,95:0.00,9.13:0.00,9.13:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:79.0,102.3:0,0:0,0:40,29:110,121:29,15:-,NM_001129993.1(KIAA1841) c.1512-172delA:-,NOT_FOUND:-,NOT_FOUND 2 61333568 rs111921053 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9924,A/0.007588;NP=48;PC=0.026;Gene=KIAA1841/NM_001129993.1/1;CC=c.1512-130G>A;VC=Intron;Gene=KIAA1841/NM_032506.2/0;CC=c.1512-130G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:11:11:0:0:6,5:127,142:12.24,0.00:12.24,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:101.3,20.6:0,0:0,0:50,21:100,128:10,15:NM_001129993.1(KIAA1841) c.1512-130G>A,-:0.01,-:NOT_FOUND,- 2 61333798 . G . . NT END=61335451;NT GT ./. 2 61335485 . G . . NT END=61336331;NT GT ./. 2 61336432 . G . . NT END=61343113;NT GT ./. 2 61343206 . G . . NT END=61344491;NT GT ./. 2 61344521 . G . . NT END=61344601;NT GT ./. 2 61344676 . G . . NT END=61345162;NT GT ./. 2 61345252 . G . . NT END=61348319;NT GT ./. 2 61348412 . G . . NT END=61349260;NT GT ./. 2 61349446 rs1177284 G A 73 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.3217,A/0.6783;PC=0.046;Gene=KIAA1841/NM_001129993.1/1;CC=c.*149G>A;VC=3UTR;Gene=KIAA1841/NM_032506.2/0;CC=c.2028+4195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:35:0:0:24,30:781,970:73.46,0.00:54.60,0.00:18.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,5.0:0,0:0,0:62,79:88,71:39,25:NM_001129993.1(KIAA1841) c.*149G>A,-:0.71,-:NOT_FOUND,- 2 61350137 rs1177285 A G 81 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.6314,G/0.3686;Gene=KIAA1841/NM_001129993.1/1;CC=c.*840A>G;VC=3UTR;Gene=KIAA1841/NM_032506.2/0;CC=c.2028+4886A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:31:0:0:28,25:843,846:0.00,80.64:0.00,45.54:0.00,35.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,37.6:0,0:0,0:67,85:83,66:46,39:-,NM_001129993.1(KIAA1841) c.*840A>G:-,0.4:-,NOT_FOUND 2 61350967 . c . . NT END=61351229;NT GT ./. 2 61351187 rs114498878 T C 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4205,C/0.5795;PC=0.001;Gene=KIAA1841/NM_001129993.1/1;CC=c.*1890T>C;VC=3UTR;Gene=KIAA1841/NM_032506.2/0;CC=c.2028+5936T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:20:0:0:11,15:312,463:28.71,0.00:21.72,0.00:6.98,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:95.5,4.9:0,0:0,0:75,65:76,86:26,27:NM_001129993.1(KIAA1841) c.*1890T>C,-:0.54,-:NOT_FOUND,- 2 61351188 rs114317312 T C 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.4205,C/0.5795;Gene=KIAA1841/NM_001129993.1/1;CC=c.*1891T>C;VC=3UTR;Gene=KIAA1841/NM_032506.2/0;CC=c.2028+5937T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:22:0:0:11,17:323,546:29.38,0.00:21.53,0.00:7.85,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:95.5,4.4:0,0:0,0:76,62:75,89:26,31:NM_001129993.1(KIAA1841) c.*1891T>C,-:0.54,-:NOT_FOUND,- 2 61351189 rs114015142 T A 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.4205,A/0.5795;Gene=KIAA1841/NM_001129993.1/1;CC=c.*1892T>A;VC=3UTR;Gene=KIAA1841/NM_032506.2/0;CC=c.2028+5938T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:28:22:0:0:11,17:328,538:29.88,0.00:23.08,0.00:6.80,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:95.5,4.4:0,0:0,0:77,50:74,99:26,39:NM_001129993.1(KIAA1841) c.*1892T>A,-:0.54,-:NOT_FOUND,- 2 61351416 . G . . NT END=61389628;NT GT ./. 2 61389737 rs1729674 T G 40 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6062,G/0.3938;PC=0.829;Gene=C2orf74/NM_001143960.1/1;CC=c.-121-240T>G;VC=Intron;Gene=C2orf74/NM_001316317/0;CC=c.-7-450T>G;VC=Intron;Gene=C2orf74/NM_001143959.1/0;CC=c.109T>G;ProtCh=p.Y37D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:37:20:0:0:14,23:444,718:40.42,0.00:12.34,0.00:28.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.1,4.2:0,0:0,0:80,87:68,61:44,35:NM_001143959.1(C2orf74) c.109T>G (p.Tyr37Asp),-:0.43,-:NOT_FOUND,- 2 61389745 . G . . NT END=61389976;NT GT ./. 2 61389799 rs1729673 G A 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.6304,A/0.3696;PC=0.108;Gene=C2orf74/NM_001143960.1/1;CC=c.-121-178G>A;VC=Intron;Gene=C2orf74/NM_001316317/0;CC=c.-7-388G>A;VC=Intron;Gene=C2orf74/NM_001143959.1/0;CC=c.116+55G>A;VC=Intron;DM=C2orf74/DUF4642 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:14:0:0:12,20:377,654:34.23,0.00:12.10,0.00:22.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.4,1.9:0,0:0,0:97,78:53,72:30,47:NM_001143959.1(C2orf74) c.116+55G>A,-:0.4,-:NOT_FOUND,- 2 61390091 . G . . NT END=61390186;NT GT ./. 2 61390368 . G . . NT END=61391488;NT GT ./. 2 61390505 rs2420811 A T 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.642,T/0.358;PC=0.099;Gene=C2orf74/NM_001143960.1/1;CC=c.174+138A>T;VC=Intron;Gene=C2orf74/NM_001316317/0;CC=c.174+138A>T;VC=Intron;Gene=C2orf74/NM_001143959.1/0;CC=c.411+138A>T;VC=Intron;DM=C2orf74/DUF4642;DM=C2orf74/DUF4642 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:19:0:0:0:7,12:231,376:0.00,37.89:0.00,0.00:0.00,37.89:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.6,39.9:0,0:0,0:101,98:50,52:34,25:-,NM_001143959.1(C2orf74) c.411+138A>T:-,0.39:-,NOT_FOUND 2 61391663 . A . . NT END=61408529;NT GT ./. 2 61408541 . G . . NT END=61410681;NT GT ./. 2 61410798 . G . . NT END=61411846;NT GT ./. 2 61411936 . G . . NT END=61412636;NT GT ./. 2 61412406 rs112342553 ATATG A 7 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=ATATG/0.8666,A/0.1334;NP=87;Gene=AHSA2/NM_152392.3/1;CC=c.76-230_76-227delTATG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:ATATG,A:5:5:0:3:2,3:38,68:0.00,6.80:0.00,6.80:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:4.0,77.3:0,0:0,0:69,47:81,96:40,27:-,NM_152392.3(AHSA2) c.76-230_76-227delTATG:-,0.14:-,NOT_FOUND 2 61412559 rs777585 C T 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3438,T/0.6562;Gene=AHSA2/NM_152392.3/1;CC=c.76-78C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:17:0:0:10,8:323,262:0.00,24.65:0.00,19.81:0.00,4.84:0.00,0.99:0.00,1.00:0.00,0.74:60,60:10.6,35.4:0,0:0,0:29,56:121,94:22,42:-,NM_152392.3(AHSA2) c.76-78C>T:-,0.67:-,NOT_FOUND 2 61412754 . G . . NT END=61413580;NT GT ./. 2 61413633 . G . . NT END=61413751;NT GT ./. 2 61413723 rs1809028 A G 113 nt VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.2045,G/0.7955,T/.;PC=0.049;Gene=AHSA2/NM_152392.3/1;CC=c.245-29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:51:0:0:39,39:1256,1183:0.00,113.40:0.00,71.47:0.00,41.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.3,43.4:0,0:0,0:56,51:95,100:34,26:-,NM_152392.3(AHSA2) c.245-29A>G:-,0.8:-,0.834153 2 61414639 rs528239073 GCAAT G 106 PASS VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=100;PC=1.000;Gene=AHSA2/NM_152392.3/1;CC=c.*729_*732delATCA;VC=3UTR;Gene=USP34/NM_014709.3/1;CC=c.*594_*597delATTG;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCAAT,G:82:38:0:36:46,36:1562,1135:0.00,106.25:0.00,36.57:0.00,69.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,7.9:0,0:0,0:93,89:51,60:41,21:-,NM_014709.3(USP34) c.*586ATTG[2]:-,NOT_FOUND:-,NOT_FOUND 2 61414687 . C . . NT END=61415043;NT GT ./. 2 61415091 . C . . NT END=61415237;NT GT ./. 2 61415492 rs14170 A G 162 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.5883,G/0.4117;PC=0.078;Gene=USP34/NM_014709.3/1;CC=c.10386T>C;ProtCh=p.A3462=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:108:69:0:0:52,56:1743,1677:0.00,161.67:0.00,84.38:0.00,77.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,38.3:0,0:0,0:77,77:72,71:41,33:-,NM_014709.3(USP34) c.10386T>C (p.(=)):-,0.46:-,0.485257 2 61415845 . C . . NT END=61416044;NT GT ./. 2 61416205 . C . . NT END=61417405;NT GT ./. 2 61416394 rs11309952 GT G 11 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=GT/0.4079,G/0.5921;NP=243;PC=0.001;Gene=USP34/NM_014709.3/1;CC=c.9874-191delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:GT,I,G:14:0:3:5:7,3,4:184,77,154:0.00,6.36,11.28:0.00,0.00,0.00:0.00,6.36,11.28:0.00,0.00,0.76:0.00,0.00,0.00:0.00,0.00,0.76:60,60,60:48.7,64.3,31.2:0,0,1:0,0,0:137,122,62:12,29,87:6,3,25:-,NM_014709.3(USP34) c.9874-191delA:-,NOT_FOUND:-,NOT_FOUND 2 61417550 . C . . NT END=61417652;NT GT ./. 2 61417617 rs777591 A G 134 nt VT=SNV;PN=T;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.371,G/0.629;Gene=USP34/NM_014709.3/1;CC=c.9729+36T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:53:0:0:39,44:1311,1382:0.00,134.19:0.00,74.25:0.00,59.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,39.5:0,0:0,0:51,93:98,57:31,43:-,NM_014709.3(USP34) c.9729+36T>C:-,0.65:-,0.616318 2 61417794 . C . . NT END=61420035;NT GT ./. 2 61420116 . C . . NT END=61421179;NT GT ./. 2 61420140 rs11897723 T C 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8492,C/0.1508;PC=0.022;Gene=USP34/NM_014709.3/1;CC=c.9509-25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:18:0:0:16,12:553,394:54.63,0.00:27.38,0.00:27.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,9.5:0,0:0,0:77,97:73,45:17,30:NM_014709.3(USP34) c.9509-25A>G,-:0.15,-:0.198242,- 2 61421345 . C . . NT END=61430274;NT GT ./. 2 61430399 . C . . NT END=61431390;NT GT ./. 2 61431516 . C . . NT END=61431631;NT GT ./. 2 61431737 . C . . NT END=61433151;NT GT ./. 2 61433260 . C . . NT END=61433894;NT GT ./. 2 61434022 . C . . NT END=61436033;NT GT ./. 2 61435847 rs4671397 G A 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1336,A/0.8664;PC=0.003;Gene=USP34/NM_014709.3/1;CC=c.8919+187C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:170:19.38:19.38:0.00:1.00:1.00:0.00:60:40.2:0:0:25:125:8:NM_014709.3(USP34) c.8919+187C>T,NM_014709.3(USP34) c.8919+187C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 2 61436113 . C . . NT END=61438906;NT GT ./. 2 61439065 . C . . NT END=61441194;NT GT ./. 2 61439206 rs751341 C T 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4756,T/0.5244;PC=0.001;Gene=USP34/NM_014709.3/1;CC=c.8683-142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:0:0:0:22:646:74.98:0.00:74.98:1.00:0.00:1.00:60:34.4:0:0:78:71:38:NM_014709.3(USP34) c.8683-142G>A,NM_014709.3(USP34) c.8683-142G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 2 61440947 rs12615783 T C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6829,C/0.3171;PC=0.001;Gene=USP34/NM_014709.3/1;CC=c.8682+248A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:7:7:0:0:4,3:135,102:13.33,0.00:13.33,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:39.5,0.0:0,0:0,0:95,109:55,42:25,31:NM_014709.3(USP34) c.8682+248A>G,-:0.31,-:NOT_FOUND,- 2 61441830 . C . . NT END=61447444;NT GT ./. 2 61442075 rs2123112 T G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3926,G/0.6074;PC=0.001;Gene=USP34/NM_014709.3/1;CC=c.8048-246A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:4:0:0:0:2,2:67,66:6.45,0.00:0.00,0.00:6.45,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:33.5,4.0:0,0:0,0:48,110:103,40:25,3:NM_014709.3(USP34) c.8048-246A>C,-:0.57,-:NOT_FOUND,- 2 61447286 rs60784334 TAAAAAAAAAAA T 19 idl,nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;PC=0.014;Gene=USP34/NM_014709.3/1;CC=c.8047+148_8047+158delTTTTTTTTTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:TAAAAAAAAAAA,T:8:12:0:10:2,6:27,319:0.00,19.27:0.00,19.27:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:27.5,77.0:0,4:0,0:132,56:15,94:9,8:-,NM_014709.3(USP34) c.8047+148_8047+158delTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 2 61447593 . C . . NT END=61448636;NT GT ./. 2 61448493 rs11889205 G A 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8458,A/0.1542,C/.;Gene=USP34/NM_014709.3/1;CC=c.7899+144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:9:9:0:0:4,5:129,172:12.12,0.00:12.12,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:32.2,7.4:0,0:0,0:14,67:136,83:10,18:NM_014709.3(USP34) c.7899+144C>T,-:0.16,-:NOT_FOUND,- 2 61448742 . C . . NT END=61449753;NT GT ./. 2 61448776 rs2290324 A C 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.7516,C/0.2484;Gene=USP34/NM_014709.3/1;CC=c.7795-35T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:20:0:0:21,10:649,349:0.00,31.22:0.00,13.97:0.00,17.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,34.9:0,0:0,0:127,86:23,64:19,19:-,NM_014709.3(USP34) c.7795-35T>G:-,0.23:-,0.199486 2 61449799 . C . . NT END=61450194;NT GT ./. 2 61450300 . C . . NT END=61450382;NT GT ./. 2 61450432 . C . . NT END=61454201;NT GT ./. 2 61450454 rs2123111 A G 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4209,G/0.5791;PC=0.997;Gene=USP34/NM_014709.3/1;CC=c.7596-23T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:23:0:0:21,25:672,818:0.00,79.92:0.00,22.52:0.00,57.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,34.8:0,0:0,0:113,98:38,53:27,17:-,NM_014709.3(USP34) c.7596-23T>C:-,0.54:-,0.512853 2 61454059 rs3087777 T A 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.483,A/0.517;PC=0.368;Gene=USP34/NM_014709.3/1;CC=c.7595+143A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:17:0:0:17:497:57.74:57.74:0.00:1.00:1.00:0.00:60:38.1:0:0:36:105:23:NM_014709.3(USP34) c.7595+143A>T,NM_014709.3(USP34) c.7595+143A>T:0.5,0.5:NOT_FOUND,NOT_FOUND 2 61454354 . C . . NT END=61455779;NT GT ./. 2 61455855 . C . . NT END=61455961;NT GT ./. 2 61456131 . C . . NT END=61456682;NT GT ./. 2 61456394 rs11307251 AT A 21 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AT/0.005391,A/0.9946;NP=280;PC=0.012;Gene=USP34/NM_014709.3/1;CC=c.7200-265delA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:2:0:6:6:177:20.56:5.75:14.81:1.00:1.00:1.00:60:9.2:0:0:58:92:23:NM_014709.3(USP34) c.7200-265delA,NM_014709.3(USP34) c.7200-265delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 61456592 . T TA 8 rn VT=INS;SST=Single;DP=16;Gene=USP34/NM_014709.3/1;CC=c.7199+90_7199+91insT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TA,D:16:16:3:2:11,3,2:347,93,67:0.00,7.56,5.21:0.00,7.56,5.21:0.00,0.00,0.00:0.00,0.54,0.00:0.00,0.54,0.00:0.00,0.00,0.00:60,60,60:41.2,91.7,27.5:0,0,0:0,0,0:64,73,69:81,77,81:32,4,43:-,NM_014709.3(USP34) c.7199+90_7199+91insT:-,NOT_FOUND:-,NOT_FOUND 2 61456611 rs70959901 C A 17 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4708,CAA/0.5292;DB;DBA=NA;PAF=C/0.4708,CAA/0.5292;NP=2;NP=232;NP=43;NP=844;PC=0.026;Gene=USP34/NM_014709.3/1;CC=c.7199+72G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,C,I:20:22:3:0:6,13,1:191,364,93:16.79,0.00,2.17:17.00,0.00,2.20:-0.21,0.00,-0.03:0.93,0.00,0.00:0.93,0.00,0.00:0.65,0.00,0.00:60,60,60:66.7,47.1,97.0:3,0,2:0,0,0:88,13,51:40,138,99:35,12,25:NM_014709.3(USP34) c.7199+72G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 61456623 rs563417424 A C 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=13;Gene=USP34/NM_014709.3/1;CC=c.7199+60T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,I:29:29:1:0:15,13,1:487,377,32:0.00,35.44,1.99:0.00,29.02,1.99:0.00,6.43,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.94,0.00:60,60,60:48.3,42.4,0.0:0,0,0:0,0,0:96,17,23:49,132,127:46,11,0:-,NM_014709.3(USP34) c.7199+60T>G:-,NOT_FOUND:-,NOT_FOUND 2 61456624 rs200365755 C A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1;NP=37;NP=758;Gene=USP34/NM_014709.3/1;CC=c.7199+59G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,C:29:29:0:0:4,25:103,664:7.21,0.00:7.37,0.00:-0.16,0.00:0.65,0.00:0.65,0.00:0.51,0.00:60,60:87.5,37.9:0,2:0,0:102,20:48,131:2,12:NM_014709.3(USP34) c.7199+59G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 61456769 . C . . NT END=61459586;NT GT ./. 2 61459668 . C . . NT END=61462979;NT GT ./. 2 61459753 rs114777504 G A 36 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=27;Gene=USP34/NM_014709.3/1;CC=c.7033-86C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:21:3:0:0:11,1,9:371,10,239:36.40,0.16,0.00:1.48,-0.02,0.00:34.92,0.18,0.00:1.00,0.00,0.00:0.90,0.00,0.00:1.00,0.00,0.00:60,60,60:39.4,203.0,13.6:0,0,0:0,0,0:110,94,117:41,41,34:22,0,11:NM_014709.3(USP34) c.7033-86C>T,-:0.0014,-:NOT_FOUND,- 2 61463046 . C . . NT END=61463160;NT GT ./. 2 61463209 . C . . NT END=61463295;NT GT ./. 2 61463372 . C . . NT END=61463459;NT GT ./. 2 61463525 . C . . NT END=61468694;NT GT ./. 2 61466435 . TCACA T 9 idl,rn VT=DEL;SST=Single;DP=7;NP=5;Gene=USP34/NM_014709.3/1;CC=c.6777+2256_6777+2259delTGTG;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:TCACA,T:5:7:0:5:2,3:46,146:0.00,9.04:0.00,9.04:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:9.5,49.7:0,2:0,0:122,20:28,126:4,5:-,NM_014709.3(USP34) c.6777+2256_6777+2259delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 61468761 rs72884996 T C 84 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.876,C/0.124;PC=1.000;Gene=USP34/NM_014709.3/1;CC=c.6711A>G;ProtCh=p.K2237=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:45:0:0:29,33:889,981:84.04,0.00:58.36,0.00:25.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,9.8:0,0:0,0:72,80:74,60:23,23:NM_014709.3(USP34) c.6711A>G (p.(=)),-:0.13,-:0.172201,- 2 61468791 . C . . NT END=61468900;NT GT ./. 2 61468955 . C . . NT END=61472344;NT GT ./. 2 61472424 . C . . NT END=61473458;NT GT ./. 2 61473613 . C . . NT END=61475645;NT GT ./. 2 61475819 . C . . NT END=61483518;NT GT ./. 2 61476053 rs72811474 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9704,T/0.02955;PC=0.001;Gene=USP34/NM_014709.3/1;CC=c.6222-235G>A;VC=Intron;DM=USP34/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:5:0:0:0:2,3:63,102:0.00,10.17:0.00,0.00:0.00,10.17:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,34.0:0,0:0,0:126,130:25,21:6,8:-,NM_014709.3(USP34) c.6222-235G>A:-,0.02:-,NOT_FOUND 2 61483614 . C . . NT END=61484007;NT GT ./. 2 61483715 rs68101593 A T 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4523,T/0.5477;PC=0.041;Gene=USP34/NM_014709.3/1;CC=c.6127-102T>A;VC=Intron;DM=USP34/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,T:17:8:0:0:2,15:65,493:0.00,53.78:0.00,25.53:0.00,28.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,64.6:1,0:0,0:68,68:83,83:68,30:-,NM_014709.3(USP34) c.6127-102T>A:-,NOT_FOUND:-,NOT_FOUND 2 61483725 rs72811484 T A,TA 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DM=USP34/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:35:A,T,TA:15:8:2:0:12,1,2:398,31,65:43.66,0.00,5.64:25.86,0.00,2.80:17.80,0.00,2.84:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:72.8,32.0,17.0:0,0,0:0,0,0:75,146,50:75,5,100:29,0,40:NM_014709.3(USP34) c.6127-112A>T,NM_014709.3(USP34) c.6127-113_6127-112insT:NOT_FOUND,0.55:NOT_FOUND,NOT_FOUND 2 61484086 . C . . NT END=61484186;NT GT ./. 2 61484244 . C . . NT END=61484338;NT GT ./. 2 61484486 . C . . NT END=61486845;NT GT ./. 2 61484556 rs2060824 T C 143 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.489,C/0.511;Gene=USP34/NM_014709.3/1;CC=c.5845-71A>G;VC=Intron;DM=USP34/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A,C:39:14:0:0:1,38:8,1256:0.14,143.22:0.00,33.81:0.14,109.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:54.0,38.8:0,0:0,0:51,105:100,45:0,19:NM_014709.3(USP34) c.5845-71A>G,NM_014709.3(USP34) c.5845-71A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 2 61486628 rs10169482 G T 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.469,T/0.531;PC=0.014;Gene=USP34/NM_014709.3/1;CC=c.5844+218C>A;VC=Intron;DM=USP34/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,T:4:4:0:0:1,3:32,93:0.00,9.75:0.00,9.75:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,31.0:0,0:0,0:98,40:53,111:0,40:-,NM_014709.3(USP34) c.5844+218C>A:-,0.47:-,NOT_FOUND 2 61486689 rs564141298 AT A 8 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AT/0.7726,A/0.2274;DB;DBA=NA;PAF=AT/0.7726,A/0.2274;NP=321;PC=0.014;Gene=USP34/NM_014709.3/1;CC=c.5844+156delA;VC=Intron;DM=USP34/UCH;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:AT,A:9:9:0:3:6,3:191,93:0.00,8.24:0.00,8.24:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:15.7,11.3:0,0:0,0:43,33:108,118:9,18:-,NM_014709.3(USP34) c.5844+156delA:-,NOT_FOUND:-,NOT_FOUND 2 61486912 . C . . NT END=61492531;NT GT ./. 2 61492693 . C . . NT END=61493118;NT GT ./. 2 61492829 rs147338129 TA T 19 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=TA/0.874,T/0.126;NP=74;Gene=USP34/NM_014709.3/1;CC=c.5618-138delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:17:2:0:7:10,7:270,205:0.00,18.87:0.00,2.96:0.00,15.91:0.00,0.98:0.00,0.71:0.00,1.00:60,60:10.7,27.0:0,0:0,0:114,85:34,66:24,37:-,NM_014709.3(USP34) c.5618-138delT:-,NOT_FOUND:-,NOT_FOUND 2 61492967 rs150868848 ATGT A 35 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=ATGT/0.9702,A/0.02975;NP=92;PC=0.002;Gene=USP34/NM_014709.3/1;CC=c.5617+149_5617+151delACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATGT,T,A:23:21:0:11:11,1,11:352,8,359:0.00,0.01,34.52:0.00,0.02,31.34:0.00,-0.02,3.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.77:60,60,60:5.7,106.0,1.2:0,0,0:0,0,0:46,99,46:105,52,105:34,0,19:-,NM_014709.3(USP34) c.5617+149_5617+151delACA:-,0.03:-,NOT_FOUND 2 61493303 . C . . NT END=61505299;NT GT ./. 2 61505072 rs13004855 C T 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6823,T/0.3177;PC=0.010;Gene=USP34/NM_014709.3/1;CC=c.5433+228G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:8:8:0:0:3,5:102,159:0.00,15.99:0.00,15.99:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:10.7,44.4:0,0:0,0:36,56:115,75:7,26:-,NM_014709.3(USP34) c.5433+228G>A:-,0.31:-,NOT_FOUND 2 61505421 . C . . NT END=61505522;NT GT ./. 2 61505579 . C . . NT END=61507378;NT GT ./. 2 61507484 . C . . NT END=61508224;NT GT ./. 2 61508378 . C . . NT END=61510279;NT GT ./. 2 61510405 . C . . NT END=61510543;NT GT ./. 2 61510585 . C . . NT END=61512009;NT GT ./. 2 61510709 rs67763106 TGAGTGA T 23 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=TGAGTGA/0.5669,T/0.4331;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TGAGTGA/0.5669,T/0.4331;DB;DBA=NA;PAF=TGAGTGA/0.5669,T/0.4331;NP=1028;PC=0.002;Gene=USP34/NM_014709.3/1;CC=c.4833-131_4833-126delTCACTC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGAGTGA,T:30:4:0:8:22,8:670,264:0.00,22.67:0.00,-0.33:0.00,23.00:0.00,0.98:0.00,0.71:0.00,1.00:60,60:20.9,5.4:0,0:0,0:121,64:29,87:24,8:-,NM_014709.3(USP34) c.4833-131_4833-126delTCACTC:-,0.54:-,NOT_FOUND 2 61512093 . C . . NT END=61515811;NT GT ./. 2 61512321 rs12620105 A T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6875,T/0.3125;Gene=USP34/NM_014709.3/1;CC=c.4750-229T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,T:5:0:0:0:2,3:64,88:0.00,8.77:0.00,0.00:0.00,8.77:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,32.0:0,0:0,0:49,89:101,59:17,49:-,NM_014709.3(USP34) c.4750-229T>A:-,0.3:-,NOT_FOUND 2 61516013 . C . . NT END=61520598;NT GT ./. 2 61520686 . C . . NT END=61522083;NT GT ./. 2 61520815 rs7566035 C T 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6849,T/0.3151;Gene=USP34/NM_014709.3/1;CC=c.4462-130G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:C,T:16:0:0:0:6,10:183,318:0.00,31.97:0.00,0.00:0.00,31.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.8,42.3:0,0:0,0:98,103:52,47:29,9:-,NM_014709.3(USP34) c.4462-130G>A:-,0.3:-,NOT_FOUND 2 61522047 rs35292974 T C 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.6482,C/0.3518;PC=0.415;Gene=USP34/NM_014709.3/1;CC=c.4461+37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:39:0:0:25,17:829,532:82.48,0.00:66.93,0.00:15.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.7,29.8:0,0:0,0:55,25:94,104:28,19:NM_014709.3(USP34) c.4461+37A>G,-:0.33,-:0.367443,- 2 61522123 rs13014347 T C 218 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.005391,C/0.9946;PC=0.898;Gene=USP34/NM_014709.3/1;CC=c.4422A>G;ProtCh=p.E1474=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:A,C:59:46:0:0:1,58:13,1909:0.29,218.08:0.29,129.84:0.00,88.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:69.0,42.9:0,0:0,0:132,62:18,83:0,27:NM_014709.3(USP34) c.4422A>G (p.(=)),NM_014709.3(USP34) c.4422A>G (p.(=)):0.99,0.99:0.986684,0.986684 2 61522168 . C . . NT END=61522302;NT GT ./. 2 61522426 . C . . NT END=61523934;NT GT ./. 2 61522612 rs115108049 A C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.992,C/0.007987;PC=0.449;Gene=USP34/NM_014709.3/1;CC=c.4255-187T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,C:12:0:0:0:7,5:174,166:0.00,15.47:0.00,0.00:0.00,15.47:0.00,0.92:0.00,0.00:0.00,0.92:60,60:23.1,35.2:0,0:0,0:85,87:66,63:18,23:-,NM_014709.3(USP34) c.4255-187T>G:-,0.01:-,NOT_FOUND 2 61524061 . C . . NT END=61528085;NT GT ./. 2 61527958 . CA C 8 rn VT=DEL;SST=Single;DP=8;NP=5;Gene=USP34/NM_014709.3/1;CC=c.4128+127delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,CA,C:8:8:0:3:1,4,3:33,130,82:2.64,0.00,7.54:2.67,0.00,7.64:-0.03,0.00,-0.10:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.58:60,60,60:88.0,0.0,30.0:1,0,0:0,0,0:25,62,34:121,87,116:0,36,1:-,NM_014709.3(USP34) c.4128+127delT:-,NOT_FOUND:-,NOT_FOUND 2 61528296 . C . . NT END=61528488;NT GT ./. 2 61528299 rs386390304 T TA 97 rn VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.6833,TA/0.3167;DB;DBA=NA;PAF=T/0.6833,TA/0.3167;DB;DBA=NA;PAF=T/0.6833,TA/0.3167;NP=1930;Gene=USP34/NM_014709.3/1;CC=c.3919-5dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:75:41:33:0:1,41,33:11,1241,1037:-0.07,0.00,97.37:0.06,0.00,39.43:-0.14,0.00,57.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:101.0,13.8,6.0:0,1,0:0,0,0:125,101,84:26,36,65:0,37,20:-,NM_014709.3(USP34) c.3919-5_3919-4insT:-,0.3:-,0.330567 2 61528590 . C . . NT END=61538674;NT GT ./. 2 61538602 rs76374237 G GAAAAGAGAAAGAAAAAGAAAA 49 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;Gene=USP34/NM_014709.3/1;CC=c.3817+72_3817+73insTTTTCTTTTTCTTTCTCTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G,GAAAAGAGAAAGAAAAAGAAAA:25:25:15:0:3,7,15:88,242,475:7.08,0.00,48.54:5.86,0.00,48.54:1.23,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.73:60,60,60:54.0,58.1,7.5:1,0,0:0,0,0:1,107,38:138,43,113:0,10,13:-,NM_014709.3(USP34) c.3817+72_3817+73insTTTTCTTTTTCTTTCTCTTTT:-,NOT_FOUND:-,NOT_FOUND 2 61538621 rs73936115 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=8;PC=0.004;Gene=USP34/NM_014709.3/1;CC=c.3817+54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G,T:47:43:0:0:4,42,1:134,1379,9:9.41,0.00,-0.24:7.11,0.00,-0.16:2.30,0.00,-0.07:0.56,0.00,0.00:0.92,0.00,0.00:0.61,0.00,0.00:60,60,60:70.2,12.6,20.0:0,0,0:0,0,0:119,42,118:25,91,32:10,22,0:NM_014709.3(USP34) c.3817+54C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 61538823 . C . . NT END=61538918;NT GT ./. 2 61539046 . C . . NT END=61541719;NT GT ./. 2 61541880 . C . . NT END=61542009;NT GT ./. 2 61542110 . C . . NT END=61544788;NT GT ./. 2 61544903 . C . . NT END=61546307;NT GT ./. 2 61546217 . C CA 9 rn VT=INS;SST=Single;DP=29;Gene=USP34/NM_014709.3/1;CC=c.3168+90dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CA,D:29:27:4:1:24,4,1:781,118,32:0.00,8.73,1.85:0.00,6.53,1.88:0.00,2.19,-0.03:0.00,0.65,0.00:0.00,0.95,0.00:0.00,0.46,0.00:60,60,60:8.9,5.5,0.0:0,0,0:0,0,0:61,35,61:90,115,90:44,18,0:-,NM_014709.3(USP34) c.3168+90_3168+91insT:-,NOT_FOUND:-,NOT_FOUND 2 61546463 . C . . NT END=61552509;NT GT ./. 2 61552379 rs397716641 A AT 12 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.642,AT/0.358;DB;DBA=NA;PAF=A/0.642,AT/0.358;NP=330;PC=0.042;Gene=USP34/NM_014709.3/1;CC=c.3013+130_3013+131insA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,AT:7:7:4:0:3,4:99,123:0.00,12.13:0.00,12.13:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:0.0,14.5:0,0:0,0:135,82:16,67:12,22:-,NM_014709.3(USP34) c.3013+130_3013+131insA:-,0.34:-,NOT_FOUND 2 61552411 rs369202857 T TA 12 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=6;PC=0.087;Gene=USP34/NM_014709.3/1;CC=c.3013+98_3013+99insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:T,TA:9:10:5:0:5,4:166,160:0.00,12.01:0.00,12.01:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:31.8,37.5:0,1:0,0:16,25:135,126:12,20:-,NM_014709.3(USP34) c.3013+98_3013+99insT:-,NOT_FOUND:-,NOT_FOUND 2 61552484 rs2593624 T A 79 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.2744,A/0.7256;PC=0.003;Gene=USP34/NM_014709.3/1;CC=c.3013+26A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:17:0:0:21:686:78.61:53.96:24.65:1.00:1.00:1.00:70:37.7:0:0:53:98:29:NM_014709.3(USP34) c.3013+26A>T,NM_014709.3(USP34) c.3013+26A>T:0.68,0.68:0.702515,0.702515 2 61552593 . C . . NT END=61558410;NT GT ./. 2 61558507 . C . . NT END=61561016;NT GT ./. 2 61558682 rs2694632 T C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.645,C/0.355;Gene=USP34/NM_014709.3/1;CC=c.2835-176A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T:6:0:0:0:3,3:103,88:9.93,0.00:0.00,0.00:9.93,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:38.0,3.3:0,0:0,0:90,147:61,3:17,1:NM_014709.3(USP34) c.2835-176A>G,-:0.33,-:NOT_FOUND,- 2 61561107 . C . . NT END=61566485;NT GT ./. 2 61566536 rs17008405 T C 119 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.8856,C/0.1144;PC=1.000;Gene=USP34/NM_014709.3/1;CC=c.2694A>G;ProtCh=p.Q898=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:52:0:0:36,33:1223,1033:118.78,0.00:74.47,0.00:44.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,6.2:0,0:0,0:83,73:65,76:31,34:NM_014709.3(USP34) c.2694A>G (p.(=)),-:0.12,-:0.167575,- 2 61566614 . C . . NT END=61566700;NT GT ./. 2 61566817 . C . . NT END=61570949;NT GT ./. 2 61566824 rs369130574 GA G 21 idl,rn VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=9;PC=0.404;Gene=USP34/NM_014709.3/1;CC=c.2501-9delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,GA,T,I,G:51:23:5:10:7,30,1,5,8:125,858,7,160,316:8.09,0.00,-0.17,11.98,20.83:-0.58,0.00,-0.08,6.67,11.00:8.67,0.00,-0.09,5.31,9.83:0.00,0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:40.3,14.4,116.0,7.0,41.2:1,0,0,0,2:0,0,0,0,0:64,107,117,89,104:87,27,14,62,45:42,23,0,10,13:-,NM_014709.3(USP34) c.2501-9delT:-,NOT_FOUND:-,NOT_FOUND 2 61566954 rs533591115 ATTTTG A 11 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=ATTTTG/0.6368,A/0.3632;DB;DBA=NA;PAF=ATTTTG/0.6368,A/0.3632;NP=141;PC=0.002;Gene=USP34/NM_014709.3/1;CC=c.2501-143_2501-139delCAAAA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:ATTTTG,A:14:0:0:4:10,4:317,128:0.00,11.07:0.00,0.00:0.00,11.07:0.00,0.77:0.00,0.00:0.00,0.77:60,60:17.2,0.0:0,0:0,0:132,78:18,71:10,26:-,NM_014709.3(USP34) c.2501-143_2501-139delCAAAA:-,0.34:-,NOT_FOUND 2 61570886 rs72381726 AAAGT A 53 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=AAAGT/0.6885,A/0.3115;DB;DBA=NA;PAF=AAAGT/0.6885,A/0.3115;NP=1772;Gene=USP34/NM_014709.3/1;CC=c.2500+60_2500+63delACTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAGT,A:28:25:0:17:11,17:348,535:0.00,53.46:0.00,43.56:0.00,9.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,3.2:0,0:0,0:47,34:104,117:34,17:-,NM_014709.3(USP34) c.2500+60_2500+63delACTT:-,0.3:-,NOT_FOUND 2 61571165 . C . . NT END=61575004;NT GT ./. 2 61571295 rs2463102 G C 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6392,C/0.3608;Gene=USP34/NM_014709.3/1;CC=c.2286-131C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:0:0:0:7,11:248,320:22.93,0.00:0.00,0.00:22.93,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:37.0,7.1:0,0:0,0:90,112:61,39:8,31:NM_014709.3(USP34) c.2286-131C>G,-:0.35,-:NOT_FOUND,- 2 61575308 rs6722430 A G 464 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=A/0.006989,G/0.993;PC=0.829;Gene=USP34/NM_014709.3/1;CC=c.1982T>C;ProtCh=p.M661T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:128:90:0:0:128:4032:463.91:247.40:216.51:1.00:1.00:1.00:60:41.1:0:0:57:92:35:NM_014709.3(USP34) c.1982T>C (p.Met661Thr),NM_014709.3(USP34) c.1982T>C (p.Met661Thr):0.99,0.99:0.985651,0.985651 2 61575428 . T C 246 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=143;PC=1.000;Gene=USP34/NM_014709.3/1;CC=c.1862A>G;ProtCh=p.K621R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:143:97:0:0:75,68:2530,2182:245.78,0.00:157.37,0.00:88.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,13.9:0,0:0,0:74,83:72,66:38,28:NM_014709.3(USP34) c.1862A>G (p.Lys621Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 61575616 . C . . NT END=61575890;NT GT ./. 2 61576022 . C . . NT END=61576384;NT GT ./. 2 61576181 rs71911723 AAAG A 32 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=AAAG/0.904,A/0.09605;DB;DBA=NA;PAF=AAAG/0.904,A/0.09605;NP=275;PC=0.012;Gene=USP34/NM_014709.3/1;CC=c.1544-163_1544-161delCTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAG,A:29:7:0:11:18,11:556,348:0.00,31.71:0.00,8.76:0.00,22.95:0.00,1.00:0.00,0.95:0.00,1.00:60,60:10.4,5.5:0,0:0,0:85,41:65,110:46,10:-,NM_014709.3(USP34) c.1544-163_1544-161delCTT:-,0.1:-,NOT_FOUND 2 61576421 . C . . NT END=61577394;NT GT ./. 2 61576517 rs811378 G A 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.0007987,A/0.9992;NP=3154;PC=0.072;Gene=USP34/NM_014709.3/1;CC=c.1508-97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:7:0:0:26:855:97.90:15.21:82.69:1.00:1.00:1.00:60:37.5:0:0:115:31:23:NM_014709.3(USP34) c.1508-97C>T,NM_014709.3(USP34) c.1508-97C>T:1,1:NOT_FOUND,NOT_FOUND 2 61577525 . C . . NT END=61577702;NT GT ./. 2 61577667 . GA G 13 rn VT=DEL;SST=Single;DP=54;NP=12;Gene=USP34/NM_014709.3/1;CC=c.1377+35delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,GA,I,G:54:30:3:6:1,44,3,6:8,1336,100,178:-0.26,0.00,6.58,12.70:-0.18,0.00,4.62,8.08:-0.08,0.00,1.96,4.62:0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.92:60,60,60,60:72.0,10.7,0.0,18.0:0,0,0,0:0,0,0,0:114,64,66,47:20,85,83,103:0,37,5,19:-,NM_014709.3(USP34) c.1377+35delT:-,NOT_FOUND:-,0.090684 2 61577829 . C . . NT END=61597455;NT GT ./. 2 61577949 rs811871 C T 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.4245,T/0.5755;Gene=USP34/NM_014709.3/1;CC=c.1252-121G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:7:0:0:15,14:454,483:0.00,46.26:0.00,6.41:0.00,39.85:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.8,39.0:0,0:0,0:118,99:33,51:25,27:-,NM_014709.3(USP34) c.1252-121G>A:-,0.53:-,NOT_FOUND 2 61597549 . C . . NT END=61597632;NT GT ./. 2 61597715 . C . . NT END=61605497;NT GT ./. 2 61605379 rs10196146 C A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4147,A/0.5853;PC=0.170;Gene=USP34/NM_014709.3/1;CC=c.1076+119G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,C:8:8:0:0:4,4:127,122:12.20,0.00:12.20,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:37.5,36.0:0,0:0,0:10,30:139,106:7,4:NM_014709.3(USP34) c.1076+119G>T,-:0.54,-:NOT_FOUND,- 2 61605560 . C . . NT END=61607303;NT GT ./. 2 61605614 rs10208769 T A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4605,A/0.5395;PC=0.487;Gene=USP34/NM_014709.3/1;CC=c.1015-55A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:13:0:0:8,14:241,466:21.63,0.00:8.38,0.00:13.25,0.00:0.99,0.00:0.99,0.00:1.00,0.00:60,60:33.2,3.7:0,0:0,0:128,107:22,40:12,23:NM_014709.3(USP34) c.1015-55A>T,-:0.5,-:0.453704,- 2 61607497 . C . . NT END=61610403;NT GT ./. 2 61607736 rs397984751 T TC 10 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6466,TC/0.3534;DB;DBA=NA;PAF=T/0.6466,TC/0.3534;DB;DBA=NA;PAF=T/0.6466,TC/0.3534;NP=75;PC=0.001;Gene=USP34/NM_014709.3/1;CC=c.822-241_822-240insG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:T,TC:10:1:4:0:6,4:164,114:0.00,10.39:0.00,-0.22:0.00,10.62:0.00,0.84:0.00,0.60:0.00,0.98:60,70:36.3,3.2:0,0:0,0:119,136:29,15:20,10:-,NM_014709.3(USP34) c.822-241_822-240insG:-,0.33:-,NOT_FOUND 2 61610472 . C . . NT END=61621987;NT GT ./. 2 61622138 . C . . NT END=61622317;NT GT ./. 2 61622369 . C . . NT END=61632842;NT GT ./. 2 61633264 . C . . NT END=61647880;NT GT ./. 2 61644329 rs13028833 C G 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.4133,G/0.5867;PC=1.000;Gene=USP34/NM_014709.3/1;CC=c.131+3552G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:41:21:0:0:16,24,1:511,800,11:0.00,79.73,0.09:0.00,26.12,0.21:0.00,53.60,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.8,38.8,11.0:0,0,0:0,0,0:104,99,143:46,49,8:21,23,0:-,NM_014709.3(USP34) c.131+3552G>C:-,0.54:-,NOT_FOUND 2 61647901 rs778155 A G 69 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.6645,G/0.3355;PC=1.000;Gene=USP34/NM_014709.3/1;CC=c.111T>C;ProtCh=p.Y37=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:38:0:0:23,22:725,716:0.00,68.53:0.00,44.51:0.00,24.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,44.1:0,0:0,0:46,76:101,70:32,22:-,NM_014709.3(USP34) c.111T>C (p.(=)):-,0.32:-,0.333138 2 61647969 . C . . NT END=61697784;NT GT ./. 2 61697847 . C . . NT END=61705954;NT GT ./. 2 61706102 . C . . NT END=61708319;NT GT ./. 2 61708417 . C . . NT END=61709514;NT GT ./. 2 61709349 rs9679557 C A 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.3526,CT/0.001797;DB;DBA=NA;PAF=C/0.3526,A/0.6456;PC=0.009;Gene=XPO1/NM_003400.3/1;CC=c.2972+166G>T;VC=Intron;DM=XPO1/CRM1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:20:0:0:13,8:373,267:37.40,0.00:37.82,0.00:-0.42,0.00:1.00,0.00:1.00,0.00:0.75,0.00:60,60:35.8,7.6:0,0:0,0:27,62:124,89:24,23:NM_003400.3(XPO1) c.2972+166G>T,-:0.67,-:NOT_FOUND,- 2 61709675 . C . . NT END=61710091;NT GT ./. 2 61709747 rs11360652 GT G 41 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=GT/0.4101,G/0.5899;NP=597;PC=0.918;Gene=XPO1/NM_003400.3/1;CC=c.2813-74delA;VC=Intron;DM=XPO1/CRM1_C;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GT,T,I,G:43:15:4:16:1,24,1,3,14:14,750,10,132,522:0.18,0.00,-0.03,6.97,41.18:-0.05,0.00,0.14,-0.21,7.19:0.23,0.00,-0.18,7.18,33.99:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:171.0,11.0,10.0,3.0,5.2:0,0,0,1,2:0,0,0,0,0:146,117,140,121,98:4,29,11,28,52:0,19,0,4,36:-,NM_003400.3(XPO1) c.2813-74delA:-,NOT_FOUND:-,NOT_FOUND 2 61710227 . C . . NT END=61711071;NT GT ./. 2 61711241 . C . . NT END=61712902;NT GT ./. 2 61713098 . C . . NT END=61715299;NT GT ./. 2 61713209 rs35844473 GGAAAATC G 45 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=GGAAAATC/0.5929,G/0.4071;NP=495;Gene=XPO1/NM_003400.3/1;CC=c.2314-119_2314-113delGATTTTC;VC=Intron;DM=XPO1/CRM1_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGAAAATC,G:28:2:0:15:13,15:422,464:0.00,45.15:0.00,3.51:0.00,41.64:0.00,1.00:0.00,0.82:0.00,1.00:60,60:5.0,8.7:0,0:0,0:82,75:68,75:40,22:-,NM_003400.3(XPO1) c.2314-119_2314-113delGATTTTC:-,0.45:-,NOT_FOUND 2 61713218 rs60155512 T A 51 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.5921,A/0.4079;Gene=XPO1/NM_003400.3/1;CC=c.2314-121A>T;VC=Intron;DM=XPO1/CRM1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:0:0:0:15,10:514,346:51.25,0.00:0.00,0.00:51.25,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:8.7,6.5:15,0:0,0:77,85:73,65:22,28:NM_003400.3(XPO1) c.2314-121A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 61713220 rs61235340 T G 44 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5921,G/0.4079;Gene=XPO1/NM_003400.3/1;CC=c.2314-123A>C;VC=Intron;DM=XPO1/CRM1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:0:0:0:15,10:441,344:43.89,0.00:0.00,0.00:43.89,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:8.7,6.5:15,0:0,0:79,87:71,63:22,28:NM_003400.3(XPO1) c.2314-123A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 61715407 . C . . NT END=61715722;NT GT ./. 2 61715907 . C . . NT END=61717776;NT GT ./. 2 61717912 . C . . NT END=61719169;NT GT ./. 2 61719334 . C . . NT END=61719459;NT GT ./. 2 61719617 . C . . NT END=61719701;NT GT ./. 2 61719884 . C . . NT END=61720049;NT GT ./. 2 61720189 . C . . NT END=61721028;NT GT ./. 2 61721227 . C . . NT END=61722589;NT GT ./. 2 61722519 rs74392163 G GA 35 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.3574,GA/0.642,GAA/0.000599;NP=2755;Gene=XPO1/NM_003400.3/1;CC=c.1047+70dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:37:35:13:0:24,13:811,396:0.00,35.39:0.00,29.33:0.00,6.06:0.00,1.00:0.00,1.00:0.00,0.99:60,60:5.7,21.2:0,0:0,0:40,65:110,86:18,53:-,NM_003400.3(XPO1) c.1047+70_1047+71insT:-,0.66:-,NOT_FOUND 2 61722749 . C . . NT END=61724013;NT GT ./. 2 61722904 rs12713437 C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.3578,T/0.6422;PC=0.002;Gene=XPO1/NM_003400.3/1;CC=c.889-156G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:0:0:0:17,8:489,259:0.00,22.93:0.00,0.00:0.00,22.93:0.00,0.99:0.00,0.00:0.00,0.99:60,60:10.5,33.6:0,0:0,0:93,96:57,42:41,36:-,NM_003400.3(XPO1) c.889-156G>A:-,0.66:-,NOT_FOUND 2 61724143 . C . . NT END=61725807;NT GT ./. 2 61725501 rs12713438 G A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4048,A/0.5952;Gene=XPO1/NM_003400.3/1;CC=c.759+307C>T;VC=Intron;DM=XPO1/Xpo1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:6:6:0:0:3,3:97,82:9.34,0.00:9.34,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:32.3,3.7:0,0:0,0:69,61:82,89:25,2:NM_003400.3(XPO1) c.759+307C>T,-:0.61,-:NOT_FOUND,- 2 61725928 . C . . NT END=61725999;NT GT ./. 2 61726049 . C . . NT END=61726847;NT GT ./. 2 61726050 . T TA 16 idl,rn VT=INS;SST=Single;DP=87;PC=1.000;Gene=XPO1/NM_003400.3/1;CC=c.591-3dupT;VC=Intron;DM=XPO1/Xpo1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:T,TA,D:86:48:8:5:74,7,5:2265,262,167:0.00,15.80,10.99:0.00,8.45,1.77:0.00,7.35,9.22:0.00,0.86,0.00:0.00,0.93,0.00:0.00,0.97,0.00:60,60,60:12.0,25.7,2.2:0,1,0:0,0,0:82,85,104:59,65,46:31,26,6:-,NM_003400.3(XPO1) c.591-3_591-2insT:-,NOT_FOUND:-,NOT_FOUND 2 61727030 . C . . NT END=61729130;NT GT ./. 2 61727215 rs6718887 G A 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4109,A/0.5891;PC=0.182;Gene=XPO1/NM_003400.3/1;CC=c.409-186C>T;VC=Intron;DM=XPO1/Xpo1;DM=XPO1/Xpo1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:10,8:273,262:26.64,0.00:0.00,0.00:26.64,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.5,10.8:0,0:0,0:52,93:98,57:34,20:NM_003400.3(XPO1) c.409-186C>T,-:0.61,-:NOT_FOUND,- 2 61728900 rs79333867 C CAT 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.359,CAT/0.641,CTA/.;DB;DBA=NA;PAF=NA;NP=2;NP=403;PC=0.149;Gene=XPO1/NM_003400.3/1;CC=c.408+230_408+231insAT;VC=Intron;DM=XPO1/Xpo1;DM=XPO1/Xpo1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CAT:5:5:3:0:2,3:68,97:0.00,9.67:0.00,9.67:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,6.0:0,0:0,0:23,20:127,131:2,8:-,NM_003400.3(XPO1) c.408+230_408+231insAT:-,NOT_FOUND:-,NOT_FOUND 2 61729176 . C . . NT END=61729383;NT GT ./. 2 61729258 rs2305155 A G 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.3782,G/0.6218;PC=0.001;Gene=XPO1/NM_003400.3/1;CC=c.364-83T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:27:0:0:24,22:820,675:0.00,64.16:0.00,33.14:0.00,31.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,60.8:0,0:0,0:105,81:44,68:34,42:-,NM_003400.3(XPO1) c.364-83T>C:-,0.64:-,NOT_FOUND 2 61729268 rs2305156 T C 60 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.359,C/0.641;PC=0.008;Gene=XPO1/NM_003400.3/1;CC=c.364-93A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:26:0:0:18,21:626,654:59.51,0.00:39.12,0.00:20.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,11.0:0,0:0,0:71,82:79,69:34,47:NM_003400.3(XPO1) c.364-93A>G,-:0.66,-:NOT_FOUND,- 2 61729446 . C . . NT END=61749745;NT GT ./. 2 61729641 rs7591345 T A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3784,A/0.6216;PC=0.033;Gene=XPO1/NM_003400.3/1;CC=c.302-196A>T;VC=Intron;DM=XPO1/IBN_N;DM=XPO1/IBN_N;DM=XPO1/IBN_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,T:10:0:0:0:6,4:197,137:19.64,0.00:0.00,0.00:19.64,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:100.7,17.2:0,0:0,0:64,75:86,76:31,12:NM_003400.3(XPO1) c.302-196A>T,-:0.63,-:NOT_FOUND,- 2 61729642 rs7577375 C A 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3784,A/0.6216;PC=0.039;Gene=XPO1/NM_003400.3/1;CC=c.302-197G>T;VC=Intron;DM=XPO1/IBN_N;DM=XPO1/IBN_N;DM=XPO1/IBN_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,C:10:0:0:0:6,4:196,142:19.54,0.00:0.00,0.00:19.54,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:100.7,17.2:0,0:0,0:65,76:85,75:31,12:NM_003400.3(XPO1) c.302-197G>T,-:0.64,-:NOT_FOUND,- 2 61729695 rs12612677 A C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3602,C/0.6398;PC=0.005;Gene=XPO1/NM_003400.3/1;CC=c.302-250T>G;VC=Intron;DM=XPO1/IBN_N;DM=XPO1/IBN_N;DM=XPO1/IBN_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,C:10:0:0:0:4,6:129,177:0.00,17.64:0.00,0.00:0.00,17.64:0.00,0.99:0.00,0.00:0.00,0.99:60,60:17.2,93.2:0,0:0,0:117,96:33,54:12,30:-,NM_003400.3(XPO1) c.302-250T>G:-,0.65:-,NOT_FOUND 2 61749690 rs3732171 C T 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.395,T/0.605;PC=0.245;Gene=XPO1/NM_003400.3/1;CC=c.301+56G>A;VC=Intron;DM=XPO1/IBN_N;DM=XPO1/IBN_N;DM=XPO1/IBN_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:26:0:0:14,13:484,414:0.00,39.46:0.00,31.42:0.00,8.04:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.4,63.8:0,0:0,0:49,54:101,97:28,27:-,NM_003400.3(XPO1) c.301+56G>A:-,0.62:-,0.609286 2 61749716 rs3732170 C T 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.3594,T/0.6406;PC=0.019;Gene=XPO1/NM_003400.3/1;CC=c.301+30G>A;VC=Intron;DM=XPO1/IBN_N;DM=XPO1/IBN_N;DM=XPO1/IBN_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:27:0:0:14,15:490,470:0.00,45.40:0.00,33.50:0.00,11.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,60.8:0,0:0,0:61,72:89,79:29,24:-,NM_003400.3(XPO1) c.301+30G>A:-,0.66:-,0.639846 2 61749819 . C . . NT END=61752404;NT GT ./. 2 61752469 . C . . NT END=61752626;NT GT ./. 2 61753479 . A . . NT END=61753554;NT GT ./. 2 61753657 . C . . NT END=61760906;NT GT ./. 2 61753786 rs7421663 C T 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.3582,T/0.6418;Gene=XPO1/NM_003400.3/1;CC=c.127-130G>A;VC=Intron;DM=XPO1/IBN_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:15:0:0:0:6,9:194,260:0.00,25.85:0.00,0.00:0.00,25.85:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.0,54.3:0,0:0,0:135,113:15,38:8,30:-,NM_003400.3(XPO1) c.127-130G>A:-,0.66:-,NOT_FOUND 2 61760756 rs13390751 A C 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8576,C/0.1424;Gene=XPO1/NM_003400.3/1;CC=c.126+151T>G;VC=Intron;DM=XPO1/IBN_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:18:0:0:7,11:233,350:0.00,35.02:0.00,35.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.9,40.8:0,0:0,0:83,92:67,59:18,31:-,NM_003400.3(XPO1) c.126+151T>G:-,0.15:-,NOT_FOUND 2 61761033 . A . . NT END=62053589;NT GT ./. 2 61761169 rs1446532 G A 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.007188,A/0.9928;Gene=XPO1/NM_003400.3/1;CC=c.-6-131C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:3:0:0:18:559:64.48:6.40:58.08:1.00:1.00:1.00:60:37.9:0:0:88:62:39:NM_003400.3(XPO1) c.-6-131C>T,NM_003400.3(XPO1) c.-6-131C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 61841351 rs6752790 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.849,A/0.151;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,G:5:4:0:0:3,2:97,50:9.68,0.00:4.40,0.00:5.28,0.00:0.78,0.00:0.97,0.00:0.87,0.00:60,60:68.3,40.5:0,0:0,0:56,88:95,62:30,6:chr2 g.61841350G>A (intergenic),-:0.16,-:NOT_FOUND,- 2 61841370 rs6752673 C A 13 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8289,A/0.1711;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,C:6:5:0:0:4,2:131,69:13.35,0.00:8.00,0.00:5.35,0.00:0.93,0.00:0.99,0.00:0.91,0.00:60,60:59.2,40.5:4,0:0,0:50,107:101,43:29,6:chr2 g.61841369C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 61841373 rs146288096 TACAC T 6 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=66;PC=0.212;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TACAC,T:4:5:0:4:2,2:66,133:0.00,6.45:0.00,1.35:0.00,5.10:0.00,0.42:0.00,0.86:0.00,0.63:60,60:40.5,118.5:0,2:0,0:110,53:40,98:6,29:-,chr2 g.61841374_61841377delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 61972877 . CTGTG C 7 rn VT=DEL;SST=Single;DP=5;NP=10;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CTGTG,C:4:5:0:3:2,2:70,100:0.00,6.51:0.00,3.26:0.00,3.26:0.00,0.46:0.00,0.46:0.00,0.87:60,60:0.0,22.0:0,1:0,0:66,57:45,87:14,7:-,chr2 g.61972878_61972881delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 62047433 rs6752985 C G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.524,G/0.476;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:173:19.68:15.66:4.03:1.00:1.00:1.00:60:39.6:0:0:40:109:16:chr2 g.62047432C>G (intergenic),chr2 g.62047432C>G (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 2 62053546 rs72380346 CGCT C 76 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=CGCT/0.9205,C/0.07947;DB;DBA=NA;PAF=CGCT/0.9205,C/0.07947;NP=788;Gene=FAM161A/NM_001201543.1/1;CC=c.*41_*43delAGC;VC=3UTR;Gene=FAM161A/NM_032180.2/0;CC=c.*41_*43delAGC;VC=3UTR;Gene=FAM161A/NR_037710.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGCT,C:47:40:0:24:23,24:746,789:0.00,76.23:0.00,58.28:0.00,17.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,1.0:0,0:0,0:70,48:74,102:33,19:-,NM_001201543.1(FAM161A) c.*41_*43delAGC:-,0.1:-,0.151404 2 62053735 . C . . NT END=62054238;NT GT ./. 2 62053878 rs397770644 G GA 41 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.02077,GA/0.9792;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.02077,GA/0.9792;NP=1267;PC=0.023;Gene=FAM161A/NM_001201543.1/1;CC=c.2007-145dupT;VC=Intron;Gene=FAM161A/NM_032180.2/0;CC=c.1839-145dupT;VC=Intron;Gene=FAM161A/NR_037710.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:G,GA:14:0:12:0:2,12:48,379:0.00,41.17:0.00,0.00:0.00,41.17:0.00,1.00:0.00,0.00:0.00,1.00:60,60:55.5,11.1:1,0:0,0:90,89:59,62:54,19:-,NM_001201543.1(FAM161A) c.2007-145_2007-144insT:-,0.97:-,NOT_FOUND 2 62054394 . C . . NT END=62063144;NT GT ./. 2 62063093 rs569674900 TA T,TAA 35 idl,nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=130 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:39:TA,TAA,T:20:20:5:12:4,5,11:123,159,377:0.00,14.70,35.36:0.00,14.70,29.68:0.00,0.00,5.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.90:60,60,60:49.2,28.6,12.3:0,0,1:0,0,0:98,13,44:52,138,103:23,7,21:NM_001201543.1(FAM161A) c.1851+51delT,NM_001201543.1(FAM161A) c.1851+51dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 62063245 . C . . NT END=62065672;NT GT ./. 2 62065525 rs1548322 A G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.01997,G/0.98;Gene=FAM161A/NM_001201543.1/1;CC=c.1751+148T>C;VC=Intron;Gene=FAM161A/NM_032180.2/0;CC=c.1583+1031T>C;VC=Intron;Gene=FAM161A/NR_037710.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:170:19.86:19.86:0.00:1.00:1.00:0.00:60:28.3:0:0:72:77:67:NM_001201543.1(FAM161A) c.1751+148T>C,NM_001201543.1(FAM161A) c.1751+148T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 62065841 . C . . NT END=62066555;NT GT ./. 2 62065989 rs71928925 ATATTTATT A 22 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=28;PC=0.086;Gene=FAM161A/NM_001201543.1/1;CC=c.1584-157_1584-150delAATAAATA;VC=Intron;Gene=FAM161A/NM_032180.2/0;CC=c.1583+559_1583+566delAATAAATA;VC=Intron;Gene=FAM161A/NR_037710.1/0;VC=NonCoding;DM=FAM161A/UPF0564;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATATTTATT,A:16:0:0:7:9,7:295,232:0.00,21.78:0.00,0.00:0.00,21.78:0.00,0.98:0.00,0.00:0.00,0.98:60,70:2.0,2.9:0,0:0,0:129,94:22,56:12,9:-,NM_001201543.1(FAM161A) c.1584-157_1584-150delAATAAATA:-,NOT_FOUND:-,NOT_FOUND 2 62066417 rs68027162 ATATAT A 89 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=ATATAT/0.5258,A/0.4742;DB;DBA=NA;PAF=ATATAT/0.5258,A/0.4742;DB;DBA=NA;PAF=ATATAT/0.5258,A/0.4742;NP=321;Gene=FAM161A/NM_001201543.1/1;CC=c.1583+134_1583+138delATATA;VC=Intron;Gene=FAM161A/NM_032180.2/0;CC=c.1583+134_1583+138delATATA;VC=Intron;Gene=FAM161A/NR_037710.1/0;VC=NonCoding;DM=FAM161A/UPF0564;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:ATATAT,A:27:27:0:25:2,25:59,797:0.00,88.53:0.00,88.53:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,9.9:0,0:0,0:138,54:6,96:3,28:NM_001201543.1(FAM161A) c.1583+134_1583+138delATATA,NM_001201543.1(FAM161A) c.1583+134_1583+138delATATA:0.46,0.46:NOT_FOUND,NOT_FOUND 2 62066927 rs4672457 A G 363 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=in-clinvar;PAF=A/0.02037,G/0.9796;Gene=FAM161A/NM_001201543.1/1;CC=c.1212T>C;ProtCh=p.C404=;VC=Silent;Gene=FAM161A/NM_032180.2/0;CC=c.1212T>C;ProtCh=p.C404=;VC=Silent;Gene=FAM161A/NR_037710.1/0;VC=NonCoding;DM=FAM161A/UPF0564 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:101:74:0:0:100,1:3160,13:363.09,0.19:208.52,0.19:154.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,114.0:0,0:0,0:57,139:91,9:35,0:NM_001201543.1(FAM161A) c.1212T>C (p.(=)),NM_001201543.1(FAM161A) c.1212T>C (p.(=)):0.98,0.98:0.97983,0.97983 2 62067717 . C . . NT END=62069256;NT GT ./. 2 62067880 rs1807820 G C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5383,C/0.4617;PC=0.001;Gene=FAM161A/NM_001201543.1/1;CC=c.423-164C>G;VC=Intron;Gene=FAM161A/NM_032180.2/0;CC=c.423-164C>G;VC=Intron;Gene=FAM161A/NR_037710.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:249:28.71:0.00:28.71:1.00:0.00:1.00:60:33.9:0:0:84:67:34:NM_001201543.1(FAM161A) c.423-164C>G,NM_001201543.1(FAM161A) c.423-164C>G:0.45,0.45:NOT_FOUND,NOT_FOUND 2 62069496 . C . . NT END=62080993;NT GT ./. 2 62081012 rs4270331 A C 523 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.02057,C/0.9794;Gene=FAM161A/NM_001201543.1/1;CC=c.165T>G;ProtCh=p.A55=;VC=Silent;Gene=FAM161A/NM_032180.2/0;CC=c.165T>G;ProtCh=p.A55=;VC=Silent;Gene=FAM161A/NR_037710.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:139:121:0:0:1,138:10,4588:0.00,522.59:0.00,367.07:0.00,155.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,41.6:0,0:0,0:37,56:114,88:0,34:NM_001201543.1(FAM161A) c.=,NM_001201543.1(FAM161A) c.=:0.98,0.98:0.979709,0.979709 2 62081177 . C . . NT END=62095826;NT GT ./. 2 62081217 rs1881616 A G 400 nt VT=SNV;PN=G;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.02057,G/0.9794;PC=0.999;Gene=FAM161A/NM_001201543.1/1;CC=c.-41T>C;VC=5UTR;Gene=FAM161A/NM_032180.2/0;CC=c.-41T>C;VC=5UTR;Gene=FAM161A/NR_037710.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:104:34:0:0:104:3502:399.63:77.12:322.51:1.00:1.00:1.00:60:43.5:0:0:103:45:22:NM_001201543.1(FAM161A) c.-41T>C,NM_001201543.1(FAM161A) c.-41T>C:0.98,0.98:0.981489,0.981489 2 62095842 . C . . NT END=62096574;NT GT ./. 2 62095994 rs4672463 A G,T 30 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.02077,G/0.9792;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:15:G,T:10:1:0:0:9,1:260,35:29.84,2.98:1.92,0.00:27.93,2.98:1.00,0.00:0.93,0.00:1.00,0.00:60,60:42.0,170.0:0,0:0,0:50,103:99,43:31,0:NM_006430.3(CCT4) c.1606-153T>C,NM_006430.3(CCT4) c.1606-153T>A:0.98,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 62096689 . C . . NT END=62099216;NT GT ./. 2 62098993 rs7569315 C T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5238,T/0.4762;Gene=CCT4/NM_001256721.1/0;CC=c.1401+224G>A;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.1491+224G>A;VC=Intron;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:85:10.33:10.33:0.00:1.00:1.00:0.00:60:21.2:0:0:56:94:25:NM_006430.3(CCT4) c.1491+224G>A,NM_006430.3(CCT4) c.1491+224G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 2 62099156 rs3828276 T C 110 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.524,C/0.476;Gene=CCT4/NM_001256721.1/0;CC=c.1401+61A>G;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.1491+61A>G;VC=Intron;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:29:0:0:30:953:109.60:103.78:5.82:1.00:1.00:1.00:60:35.5:0:0:47:103:25:NM_006430.3(CCT4) c.1491+61A>G,NM_006430.3(CCT4) c.1491+61A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 62099452 . C . . NT END=62099592;NT GT ./. 2 62099724 . C . . NT END=62100136;NT GT ./. 2 62100069 rs201964082 G GA 33 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.987,GA/0.01298;NP=111;Gene=CCT4/NM_001256721.1/0;CC=c.1035+67_1035+68insT;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.1125+67_1125+68insT;VC=Intron;DM=CCT4/Cpn60_TCP1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA:27:26:13:0:2,14,11:65,463,397:4.70,0.00,32.52:4.75,0.00,27.32:-0.05,0.00,5.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:56.5,13.5,24.5:0,1,2:0,0,0:18,36,38:127,114,112:18,26,34:-,NM_006430.3(CCT4) c.1125+67_1125+68insT:-,0.01:-,NOT_FOUND 2 62100248 . C . . NT END=62100331;NT GT ./. 2 62100429 . C . . NT END=62103229;NT GT ./. 2 62103370 . C . . NT END=62104054;NT GT ./. 2 62103724 rs7587722 C A 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5214,A/0.4786;Gene=CCT4/NM_001256721.1/0;CC=c.687+331G>T;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.777+331G>T;VC=Intron;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:187:21.56:17.98:3.58:1.00:1.00:1.00:60:64.3:0:0:66:83:42:NM_006430.3(CCT4) c.777+331G>T,NM_006430.3(CCT4) c.777+331G>T:0.46,0.46:NOT_FOUND,NOT_FOUND 2 62103768 rs6545914 C A 19 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.02037,A/0.9796;PC=0.003;Gene=CCT4/NM_001256721.1/0;CC=c.687+287G>T;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.777+287G>T;VC=Intron;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:171:19.48:17.50:1.99:1.00:1.00:1.00:60:61.0:0:0:70:80:27:NM_006430.3(CCT4) c.777+287G>T,NM_006430.3(CCT4) c.777+287G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 62104188 . C . . NT END=62104527;NT GT ./. 2 62104650 . C . . NT END=62106003;NT GT ./. 2 62104660 rs71981241 TA T 120 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=TA/0.5369,T/0.4631;DB;DBA=NA;PAF=TA/0.5369,T/0.4631;DB;DBA=NA;PAF=TA/0.5369,T/0.4631;NP=424;Gene=CCT4/NM_001256721.1/0;CC=c.433-12delT;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.523-12delT;VC=Intron;DM=CCT4/Cpn60_TCP1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:45:20:0:40:9,36:284,1223:0.00,119.75:0.00,36.09:0.00,83.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,9.0:0,3:0,0:132,90:19,57:18,31:-,NM_006430.3(CCT4) c.523-12delT:-,NOT_FOUND:-,NOT_FOUND 2 62104826 rs6721184 C T 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5375,T/0.4625;Gene=CCT4/NM_001256721.1/0;CC=c.433-177G>A;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.523-177G>A;VC=Intron;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:317:36.47:0.00:36.47:1.00:0.00:1.00:60:40.5:0:0:92:58:40:NM_006430.3(CCT4) c.523-177G>A,NM_006430.3(CCT4) c.523-177G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 62105819 rs1881615 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.02037,T/0.9796;PC=0.027;Gene=CCT4/NM_001256721.1/0;CC=c.432+185G>A;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.522+185G>A;VC=Intron;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:33.2:0:0:70:80:19:NM_006430.3(CCT4) c.522+185G>A,NM_006430.3(CCT4) c.522+185G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 62106147 . C . . NT END=62107420;NT GT ./. 2 62107376 rs5831625 T TC 72 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.02037,TC/0.9796;NP=3454;Gene=CCT4/NM_001256721.1/0;CC=c.289+44_289+45insG;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.379+44_379+45insG;VC=Intron;DM=CCT4/Cpn60_TCP1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T,TC:21:21:20:0:1,20:8,636:0.00,71.74:0.00,64.48:0.00,7.26:0.00,1.00:0.00,1.00:0.00,1.00:60,70:103.0,2.7:1,0:0,0:104,42:12,101:0,21:NM_006430.3(CCT4) c.379+44_379+45insG,NM_006430.3(CCT4) c.379+44_379+45insG:0.98,0.98:0.978907,0.978907 2 62107530 . C . . NT END=62110593;NT GT ./. 2 62110551 rs57068738 CA C 12 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CA/0.5459,C/0.4541;DB;DBA=NA;PAF=CA/0.5459,C/0.4541;NP=1;PC=0.581;Gene=CCT4/NM_001256721.1/0;CC=c.180+1603delT;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.270+42delT;VC=Intron;DM=CCT4/Cpn60_TCP1;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,CA,I,C:22:20:1:7:1,15,1,5:10,501,34,180:0.04,0.00,2.23,12.18:-0.28,0.00,2.24,6.29:0.32,0.00,-0.01,5.88:0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.69:60,60,60,60:73.0,13.5,0.0,17.2:0,0,0,1:0,0,0,0:42,86,101,54:109,64,50,95:0,40,0,15:-,NM_006430.3(CCT4) c.270+42delT:-,NOT_FOUND:-,NOT_FOUND 2 62110684 . C . . NT END=62112154;NT GT ./. 2 62110906 rs71409300 T TACAC 7 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6042,TAGAC/0.3958;DB;DBA=NA;PAF=T/0.6042,TAGAC/0.3958;DB;DBA=NA;PAF=NA;NP=87;PC=0.004;Gene=CCT4/NM_001256721.1/0;CC=c.180+1248_180+1249insGTGT;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.181-224_181-223insGTGT;VC=Intron;DM=CCT4/Cpn60_TCP1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:T,TACAC:8:2:3:0:5,3:148,74:0.00,6.53:0.00,-0.31:0.00,6.84:0.00,0.67:0.00,0.67:0.00,0.95:60,60:70.4,75.3:1,0:0,0:88,85:46,42:45,2:-,NM_006430.3(CCT4) c.181-224_181-223insGTGT:-,NOT_FOUND:-,NOT_FOUND 2 62110912 rs68074048 C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;Gene=CCT4/NM_001256721.1/0;CC=c.180+1243G>C;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.181-229G>C;VC=Intron;DM=CCT4/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,G:9:3:0:0:6,3:173,107:0.00,9.65:0.00,5.31:0.00,4.34:0.00,0.64:0.00,0.73:0.00,0.94:60,60:55.7,51.3:1,0:0,0:81,67:69,40:15,57:-,NM_006430.3(CCT4) c.181-229G>C:-,NOT_FOUND:-,NOT_FOUND 2 62112208 . C . . NT END=62115515;NT GT ./. 2 62112246 rs57035931 C CT 51 idl,rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=796;PC=0.002;Gene=CCT4/NM_001256721.1/0;CC=c.128-40_128-39insA;VC=Intron;Gene=CCT4/NM_006430.3/1;CC=c.128-40_128-39insA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:39:23:18:3:20,17,2:643,572,67:0.00,51.00,4.61:0.00,16.72,2.35:0.00,34.28,2.26:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.8,22.0,142.5:1,1,0:0,0,0:129,103,48:12,46,94:17,11,3:-,NM_006430.3(CCT4) c.128-40_128-39insA:-,NOT_FOUND:-,NOT_FOUND 2 62115643 . G . . NT END=62132813;NT GT ./. 2 62132994 . G . . NT END=62227835;NT GT ./. 2 62184222 rs71410906 C CGTGT 12 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=27;NP=90;PC=0.016;Gene=COMMD1/NM_152516.2/1;CC=c.181-43580_181-43579insGTGT;VC=Intron;DM=COMMD1/HCaRG;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CGTGT:5:4:4:0:1,4:36,108:0.00,11.57:0.00,6.40:0.00,5.17:0.00,0.96:0.00,1.00:0.00,0.99:60,60:0.0,0.0:0,0:0,0:55,71:94,79:0,6:-,NM_152516.2(COMMD1) c.181-43614_181-43613insGTGT:-,NOT_FOUND:-,NOT_FOUND 2 62223449 rs70946774 ATGTGTG A 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=29;PC=0.019;Gene=COMMD1/NM_152516.2/1;CC=c.181-4349_181-4344delGTGTGT;VC=Intron;DM=COMMD1/HCaRG;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:2:0:4:3:130:10.66:3.50:7.15:0.85:0.95:0.85:60:5.3:1:0:48:97:23:NM_152516.2(COMMD1) c.181-4386_181-4381delTGTGTG,NM_152516.2(COMMD1) c.181-4386_181-4381delTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 62228118 . G . . NT END=62362965;NT GT ./. 2 62363077 . A . . NT END=62449355;NT GT ./. 2 62373350 rs66851446 A G 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8189,G/0.1811;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:38.2:0:0:32:119:28:chr2 g.62373349A>G (intergenic),chr2 g.62373349A>G (intergenic):0.21,0.21:NOT_FOUND,NOT_FOUND 2 62450550 . A . . NT END=62728343;NT GT ./. 2 62728623 . C . . NT END=62729571;NT GT ./. 2 62729674 rs4672527 T C 133 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.1887,C/0.8113;PC=0.998;Gene=TMEM17/NM_198276.2/1;CC=c.216A>G;ProtCh=p.L72=;VC=Silent;DM=TMEM17/Transmemb_17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:21:0:0:34:1169:133.11:54.63:78.49:1.00:1.00:1.00:60:39.8:0:0:100:35:31:NM_198276.2(TMEM17) c.216A>G (p.(=)),NM_198276.2(TMEM17) c.216A>G (p.(=)):0.81,0.81:0.879594,0.879594 2 62729686 . C . . NT END=62729825;NT GT ./. 2 62729747 rs397770387 G GA 63 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.1887,GA/0.8113;DB;DBA=NA;PAF=G/0.1887,GA/0.8113;NP=3046;Gene=TMEM17/NM_198276.2/1;CC=c.205-63dupT;VC=Intron;DM=TMEM17/Transmemb_17;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:GA:17:10:17:0:17:552:63.31:35.93:27.38:1.00:1.00:1.00:60:25.8:0:0:84:66:30:NM_198276.2(TMEM17) c.205-63_205-62insT,NM_198276.2(TMEM17) c.205-63_205-62insT:0.81,0.81:NOT_FOUND,NOT_FOUND 2 62729930 . C . . NT END=62733164;NT GT ./. 2 62730048 rs4672528 T A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1887,A/0.8113;PC=0.007;Gene=TMEM17/NM_198276.2/1;CC=c.101-119A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:37.2:0:0:103:47:17:NM_198276.2(TMEM17) c.101-119A>T,NM_198276.2(TMEM17) c.101-119A>T:0.81,0.81:NOT_FOUND,NOT_FOUND 2 62732779 rs4347816 C A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.617,A/0.383;Gene=TMEM17/NM_198276.2/1;CC=c.100+386G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:A,C:4:4:0:0:3,1:81,36:8.53,0.00:8.53,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:35.3,0.0:0,0:0,0:80,117:71,1:27,0:NM_198276.2(TMEM17) c.100+386G>T,-:0.39,-:NOT_FOUND,- 2 62733253 rs11676567 C T 222 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.5673,T/0.4327;PC=0.036;Gene=TMEM17/NM_198276.2/1;CC=c.12G>A;ProtCh=p.P4=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:135:85:0:0:1,65,69:10,2018,2297:-0.13,0.00,222.27:-0.01,0.00,109.72:-0.12,0.00,112.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:30.0,8.0,38.5:0,0,0:0,0,0:67,87,101:84,55,47:0,29,25:-,NM_198276.2(TMEM17) c.12G>A (p.(=)):-,0.43:-,0.394356 2 62733265 . G . . NT END=62934326;NT GT ./. 2 62759659 . CT C 9 rn VT=DEL;SST=Single;DP=7;NP=29;PC=0.835;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:CT,C:7:7:0:3:4,3:137,94:0.00,8.75:0.00,8.88:0.00,-0.12:0.00,0.69:0.00,0.69:0.00,0.62:60,60:21.2,59.3:0,0:0,0:62,23:88,128:14,12:-,chr2 g.62759660delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 62788079 rs2129506 G C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8245,C/0.1755;PC=0.931 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,G:4:4:0:0:3,1:99,29:10.35,0.00:8.38,0.00:1.98,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:33.0,0.0:0,0:0,0:57,139:90,12:15,0:chr2 g.62788078G>C (intergenic),-:0.17,-:NOT_FOUND,- 2 62934431 . G . . NT END=62974529;NT GT ./. 2 62974588 . G . . NT END=62991400;NT GT ./. 2 62991497 . G . . NT END=62998473;NT GT ./. 2 62998528 . G . . NT END=63053221;NT GT ./. 2 63053048 rs11688816 G A 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6206,A/0.3794;PC=0.001;Gene=EHBP1/NM_001142615.2/1;CC=c.313-174G>A;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.313-174G>A;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.313-174G>A;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.313-174G>A;VC=Intron;DM=EHBP1/NT-C2;DM=EHBP1/NT-C2;DM=EHBP1/NT-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:171:19.86:19.86:0.00:1.00:1.00:0.00:60:31.3:0:0:68:83:22:NM_001142615.2(EHBP1) c.313-174G>A,NM_001142615.2(EHBP1) c.313-174G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 2 63053404 . G . . NT END=63058153;NT GT ./. 2 63057330 rs185429494 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.008;Gene=EHBP1/NM_001142615.2/1;CC=c.495-824C>T;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.495-824C>T;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.495-824C>T;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.495-824C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:6:4:0:0:3,3:104,98:0.00,9.42:0.00,6.75:0.00,2.67:0.00,0.73:0.00,0.51:0.00,0.96:60,60:33.3,68.0:0,0:0,0:68,90:78,61:54,8:-,NM_001142615.2(EHBP1) c.495-824C>T:-,0.1:-,NOT_FOUND 2 63057346 rs397742357 T TAC 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=402;PC=0.004;Gene=EHBP1/NM_001142615.2/1;CC=c.495-795_495-794insCA;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.495-795_495-794insCA;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.495-795_495-794insCA;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.495-795_495-794insCA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TAC:5:3:4:0:1,4:32,119:0.00,12.72:0.00,7.26:0.00,5.46:0.00,0.96:0.00,0.99:0.00,1.00:60,60:38.0,50.2:0,0:0,0:138,82:13,66:0,13:-,NM_001142615.2(EHBP1) c.495-808_495-807insAC:-,NOT_FOUND:-,NOT_FOUND 2 63058294 . G . . NT END=63085540;NT GT ./. 2 63085646 . G . . NT END=63086303;NT GT ./. 2 63085848 rs7567923 T C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3544,C/0.6456;PC=0.951;Gene=EHBP1/NM_001142615.2/1;CC=c.635-456T>C;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.635-456T>C;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.739+203T>C;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.635-456T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,T:6:0:0:0:3,3:86,97:8.22,0.00:0.00,0.00:8.22,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:42.0,0.0:0,0:0,0:47,136:104,12:6,9:NM_001142615.2(EHBP1) c.635-456T>C,-:0.6,-:NOT_FOUND,- 2 63086113 rs552167331 T G 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9974,G/0.002596;NP=5;PC=0.001;Gene=EHBP1/NM_001142615.2/1;CC=c.635-191T>G;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.635-191T>G;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.740-191T>G;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.635-191T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:G,T:6:6:0:0:4,2:121,63:12.35,0.00:12.35,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:30.2,0.0:0,0:0,0:62,33:88,116:42,26:NM_001142615.2(EHBP1) c.635-191T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 63086427 . G . . NT END=63091865;NT GT ./. 2 63086639 rs7557501 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.364,T/0.636;Gene=EHBP1/NM_001142615.2/1;CC=c.757+213C>T;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.757+213C>T;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.862+213C>T;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.757+213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:0:0:0:2,2:69,67:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.51:0.00,0.00:0.00,0.51:60,60:7.0,38.5:0,0:0,0:71,85:79,65:45,20:-,NM_001142615.2(EHBP1) c.757+213C>T:-,0.6:-,NOT_FOUND 2 63092107 . G . . NT END=63101480;NT GT ./. 2 63101668 . G . . NT END=63169852;NT GT ./. 2 63170032 . G . . NT END=63170936;NT GT ./. 2 63170185 rs2539990 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4167,T/0.5833;PC=0.033;Gene=EHBP1/NM_001142615.2/1;CC=c.1364+154C>T;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.1364+154C>T;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.1469+154C>T;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.1364+154C>T;VC=Intron;DM=EHBP1/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:12:0:0:0:7,5:226,162:0.00,15.05:0.00,0.00:0.00,15.05:0.00,0.92:0.00,0.00:0.00,0.92:60,60:0.0,32.4:0,0:0,0:111,136:40,15:39,11:-,NM_001142615.2(EHBP1) c.1364+154C>T:-,0.54:-,NOT_FOUND 2 63170921 rs2302567 C G 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8836,G/0.1164;PC=0.978;Gene=EHBP1/NM_001142615.2/1;CC=c.1365-16C>G;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.1365-16C>G;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.1470-16C>G;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.1365-16C>G;VC=Intron;DM=EHBP1/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:21:16:0:0:13,8:453,266:0.00,24.36:0.00,10.39:0.00,13.96:0.00,0.99:0.00,1.00:0.00,1.00:60,60:1.0,42.5:0,0:0,0:78,40:73,90:37,17:-,NM_001142615.2(EHBP1) c.1365-16C>G:-,0.13:-,0.094879 2 63170986 . G . . NT END=63175394;NT GT ./. 2 63176298 . G . . NT END=63182651;NT GT ./. 2 63182611 rs5831652 G GT 53 rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.8612,GT/0.1388,GTT/.;DB;DBA=NA;PAF=G/0.9992,A/0.0007987,T/.;DB;DBA=NA;PAF=G/0.8612,GT/0.1388;NP=318;Gene=EHBP1/NM_001142615.2/1;CC=c.2317-31dupT;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.2317-31dupT;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.2422-31dupT;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.2317-31dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:44:41:19:0:26,18:731,600:0.00,52.52:0.00,34.34:0.00,18.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,5.2:0,1:0,0:53,46:96,101:33,23:-,NM_001142615.2(EHBP1) c.2317-41_2317-40insT:-,NOT_FOUND:-,NOT_FOUND 2 63182796 . G . . NT END=63206322;NT GT ./. 2 63202997 rs2710636 T C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1621,C/0.8379;PC=0.001;Gene=EHBP1/NM_001142615.2/1;CC=c.2461-3326T>C;VC=Intron;Gene=EHBP1/NM_001142616.1/0;CC=c.2461-3326T>C;VC=Intron;Gene=EHBP1/NM_015252.3/0;CC=c.2566-3326T>C;VC=Intron;Gene=EHBP1/NM_001142614.1/0;CC=c.2461-3326T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:113:13.17:9.69:3.48:1.00:1.00:1.00:60:46.8:0:0:40:88:24:NM_001142615.2(EHBP1) c.2461-3326T>C,NM_001142615.2(EHBP1) c.2461-3326T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 63206471 . G . . NT END=63215065;NT GT ./. 2 63215174 . G . . NT END=63217850;NT GT ./. 2 63217976 . G . . NT END=63220664;NT GT ./. 2 63220804 . G . . NT END=63221005;NT GT ./. 2 63221113 . G . . NT END=63223777;NT GT ./. 2 63223902 . G . . NT END=63264669;NT GT ./. 2 63264770 . G . . NT END=63265877;NT GT ./. 2 63265952 . G . . NT END=63272200;NT GT ./. 2 63272316 . G . . NT END=63272544;NT GT ./. 2 63272636 . C . . NT END=63280125;NT GT ./. 2 63272724 rs2018650 T C 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.8798,C/0.1202;PC=0.002;Gene=EHBP1/NM_001142615.2/1;CC=c.*89T>C;VC=3UTR;Gene=EHBP1/NM_001142616.1/0;CC=c.*89T>C;VC=3UTR;Gene=EHBP1/NM_015252.3/0;CC=c.*89T>C;VC=3UTR;Gene=EHBP1/NM_001142614.1/0;CC=c.*89T>C;VC=3UTR;Gene=LOC100132215/NR_027069.1/0;VC=NonCoding;Gene=LOC100132215/NR_033389.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:1:0:0:18,12:596,389:59.38,0.00:3.85,0.00:55.53,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:36.7,4.2:0,0:0,0:94,107:56,43:39,26:NM_001142615.2(EHBP1) c.*89T>C,-:0.13,-:NOT_FOUND,- 2 63280223 . G . . NT END=63281181;NT GT ./. 2 63281334 . G . . NT END=63282635;NT GT ./. 2 63282567 rs2162011 G A 344 nt VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.6332,A/0.3668;Gene=OTX1/NM_001199770.1/1;CC=c.250-69G>A;VC=Intron;Gene=OTX1/NM_014562.3/0;CC=c.250-69G>A;VC=Intron;Gene=OTX1/NR_130153.1/0;VC=NonCoding;DM=OTX1/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:93:87:0:0:93:2998:344.00:285.50:58.50:1.00:1.00:1.00:60:39.7:0:0:40:109:24:NM_001199770.1(OTX1) c.250-69G>A,NM_001199770.1(OTX1) c.250-69G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 2 63283178 rs17850223 C G 253 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=170;DB;DBA=NA;PAF=C/0.876,G/0.124;PC=0.990;Gene=OTX1/NM_001199770.1/1;CC=c.792C>G;ProtCh=p.L264=;VC=Silent;Gene=OTX1/NM_014562.3/0;CC=c.792C>G;ProtCh=p.L264=;VC=Silent;Gene=OTX1/NR_130153.1/0;VC=NonCoding;DM=OTX1/TF_Otx GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:170:129:0:0:90,80:2948,2655:0.00,252.57:0.00,143.27:0.00,109.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,40.5:0,0:0,0:70,72:78,77:38,39:-,NM_001199770.1(OTX1) c.792C>G (p.(=)):-,0.14:-,0.102414 2 63283452 . G . . NT END=63348955;NT GT ./. 2 63349192 . C . . NT END=63380048;NT GT ./. 2 63380081 . C . . NT END=63380629;NT GT ./. 2 63380710 . C . . NT END=63401804;NT GT ./. 2 63380809 rs7595595 G A 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.1162,A/0.8838;PC=0.587;Gene=WDPCP/NM_001042692.2/0;CC=c.1602-100C>T;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.2079-100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:0:0:0:15:463:53.39:0.00:53.39:1.00:0.00:1.00:60:37.4:0:0:102:48:47:NM_015910.5(WDPCP) c.2079-100C>T,NM_015910.5(WDPCP) c.2079-100C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 2 63401968 . C . . NT END=63486441;NT GT ./. 2 63486429 rs992214 C T 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=in-clinvar;PAF=C/0.2362,T/0.7638;PC=0.995;Gene=WDPCP/NM_001042692.2/0;CC=c.1438+13G>A;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1915+13G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:43:0:0:24,26:793,800:0.00,77.31:0.00,54.98:0.00,22.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,37.8:0,0:0,0:59,50:85,96:36,33:-,NM_015910.5(WDPCP) c.1915+13G>A:-,0.72:-,0.622899 2 63486545 . C . . NT END=63540382;NT GT ./. 2 63540324 rs1517403 A G 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.8916,G/0.1084;PC=1.000;Gene=WDPCP/NM_001042692.2/0;CC=c.1335+59T>C;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1812+59T>C;VC=Intron;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:26:0:0:15,12:479,389:0.00,36.55:0.00,26.74:0.00,9.81:0.00,1.00:0.00,1.00:0.00,0.85:60,60:1.4,38.0:0,0:0,0:51,42:99,104:20,37:-,NM_015910.5(WDPCP) c.1812+59T>C:-,0.13:-,0.151993 2 63540447 . C . . NT END=63605520;NT GT ./. 2 63540523 rs1517402 A T 107 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.126,T/0.874;PC=0.066;Gene=WDPCP/NM_001042692.2/0;CC=c.1272-77T>A;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1749-77T>A;VC=Intron;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:11:0:0:29:934:107.18:22.40:84.78:1.00:1.00:1.00:60:37.7:0:0:114:36:15:NM_015910.5(WDPCP) c.1749-77T>A,NM_015910.5(WDPCP) c.1749-77T>A:0.85,0.85:NOT_FOUND,NOT_FOUND 2 63540707 rs1517401 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1404,G/0.8596;Gene=WDPCP/NM_001042692.2/0;CC=c.1272-261T>C;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1749-261T>C;VC=Intron;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:47.8:0:0:79:72:10:NM_015910.5(WDPCP) c.1749-261T>C,NM_015910.5(WDPCP) c.1749-261T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 63605430 rs2292795 A G 105 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.1262,G/0.8738;Gene=WDPCP/NM_001042692.2/0;CC=c.1271+91T>C;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1748+91T>C;VC=Intron;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:30:30:0:0:30:907:104.98:99.06:5.92:1.00:1.00:1.00:60:30.9:0:0:40:111:27:NM_015910.5(WDPCP) c.1748+91T>C,NM_015910.5(WDPCP) c.1748+91T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 63605645 . C . . NT END=63609040;NT GT ./. 2 63605772 rs2292794 A G 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.1258,G/0.8742;PC=1.000;Gene=WDPCP/NM_001042692.2/0;CC=c.1148-128T>C;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1625-128T>C;VC=Intron;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:1:0:0:18:600:68.58:4.08:64.51:1.00:1.00:1.00:60:41.3:0:0:123:27:14:NM_015910.5(WDPCP) c.1625-128T>C,NM_015910.5(WDPCP) c.1625-128T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 63609017 rs2138796 A T 257 nt VT=SNV;PN=C;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.5086,T/0.4914;Gene=WDPCP/NM_001042692.2/0;CC=c.1147+24T>A;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1624+24T>A;VC=Intron;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:64:0:0:68:2246:256.98:219.56:37.42:1.00:1.00:1.00:60:38.3:0:0:35:109:28:NM_015910.5(WDPCP) c.1624+24T>A,NM_015910.5(WDPCP) c.1624+24T>A:0.52,0.52:0.564639,0.564639 2 63609230 . C . . NT END=63631182;NT GT ./. 2 63609383 rs10186743 G C 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.5082,C/0.4918;PC=0.424;Gene=WDPCP/NM_001042692.2/0;CC=c.959-154C>G;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.1436-154C>G;VC=Intron;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:0:0:0:20:646:74.11:0.00:74.11:1.00:0.00:1.00:60:42.2:0:0:112:38:27:NM_015910.5(WDPCP) c.1436-154C>G,NM_015910.5(WDPCP) c.1436-154C>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 63631793 . C . . NT END=63660878;NT GT ./. 2 63631889 rs4671501 A C 73 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.6178,C/0.3822;Gene=WDPCP/NM_001042692.2/0;CC=c.349-97T>G;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.826-97T>G;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:50:5:0:0:25,25:787,757:0.00,72.52:0.00,-0.90:0.00,73.42:0.00,1.00:0.00,0.96:0.00,1.00:60,60:5.8,57.2:0,0:0,0:84,102:57,47:40,31:-,NM_015910.5(WDPCP) c.826-97T>G:-,0.41:-,NOT_FOUND 2 63631921 rs4671502 C T 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.626,T/0.374;Gene=WDPCP/NM_001042692.2/0;CC=c.349-129G>A;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.826-129G>A;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:38:1:0:0:3,16,19:28,562,537:0.74,0.00,52.14:-0.04,0.00,-0.30:0.78,0.00,52.45:0.00,0.00,1.00:0.00,0.00,0.67:0.00,0.00,1.00:60,60,60:42.7,1.4,60.9:0,0,0:0,0,0:65,101,112:86,49,38:32,30,27:-,NM_015910.5(WDPCP) c.826-129G>A:-,0.4:-,NOT_FOUND 2 63657110 rs199517613 TACACACAC T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=15;PC=0.217;Gene=WDPCP/NM_001042692.2/0;CC=c.348+3761_348+3768delGTGTGTGT;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.825+3761_825+3768delGTGTGTGT;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TACACACAC,T:3:2:0:3:1,2:33,94:0.00,6.55:0.00,3.33:0.00,3.23:0.00,0.51:0.00,0.79:0.00,0.89:16,60:98.0,0.0:0,1:0,0:14,16:49,135:0,3:-,NM_015910.5(WDPCP) c.825+3761_825+3768delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 63660902 rs17617459 C T 88 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.9828,T/0.01717;PC=0.992;Gene=WDPCP/NM_001042692.2/0;CC=c.325G>A;ProtCh=p.G109S;VC=Missense;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.802G>A;ProtCh=p.G268S;VC=Missense;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:59:0:0:39,28:1254,948:0.00,88.38:0.00,70.71:0.00,17.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,40.6:0,0:0,0:44,68:107,77:31,38:-,NM_015910.5(WDPCP) c.802G>A (p.Gly268Ser):-,0.02:-,0.044629 2 63661071 . C . . NT END=63664554;NT GT ./. 2 63661280 rs2292793 A G 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1234,G/0.8766;PC=0.942;Gene=WDPCP/NM_001042692.2/0;CC=c.157-210T>C;VC=Intron;Gene=WDPCP/NR_122106.1/0;VC=NonCoding;Gene=WDPCP/NM_015910.5/1;CC=c.634-210T>C;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:162:19.01:0.00:19.01:1.00:0.00:1.00:60:62.0:0:0:108:42:32:NM_015910.5(WDPCP) c.634-210T>C,NM_015910.5(WDPCP) c.634-210T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 63664689 . C . . NT END=63664995;NT GT ./. 2 63665164 . G . . NT END=63666890;NT GT ./. 2 63667006 . C . . NT END=63711737;NT GT ./. 2 63711798 . C . . NT END=63712050;NT GT ./. 2 63712122 . C . . NT END=63713675;NT GT ./. 2 63713721 . C . . NT END=63714580;NT GT ./. 2 63714629 . C . . NT END=63719989;NT GT ./. 2 63719887 rs17617855 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8602,C/0.1398;Gene=WDPCP/NM_015910.5/1;CC=c.160+103A>G;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:235,220:22.63,0.00:22.63,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:38.4,18.0:0,0:0,0:37,47:114,104:24,37:NM_015910.5(WDPCP) c.160+103A>G,-:0.17,-:NOT_FOUND,- 2 63720075 . C . . NT END=63815330;NT GT ./. 2 63720210 rs7563623 A G 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1262,G/0.8738;PC=0.004;Gene=WDPCP/NM_015910.5/1;CC=c.76-136T>C;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:0:0:0:23:758:86.72:0.00:86.72:1.00:0.00:1.00:60:41.0:0:0:97:53:30:NM_015910.5(WDPCP) c.76-136T>C,NM_015910.5(WDPCP) c.76-136T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 63749589 rs578104206 G C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6348,C/0.3652;DB;DBA=NA;PAF=NA;NP=4;PC=0.021;Gene=WDPCP/NM_015910.5/1;CC=c.76-29515C>G;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:C,G,I:7:5:1:0:4,2,1:135,72,33:13.70,0.00,2.80:7.00,0.00,2.87:6.70,0.00,-0.07:0.90,0.00,0.00:0.98,0.00,0.00:0.97,0.00,0.00:60,60,60:115.8,0.0,93.0:1,0,0:0,0,0:72,87,27:61,42,123:42,11,0:NM_015910.5(WDPCP) c.76-29515C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 63777373 rs1867848 A C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1434,C/0.8566;NP=7;PC=0.001;Gene=WDPCP/NM_015910.5/1;CC=c.75+37958T>G;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C:5:1:0:0:2,3:60,100:0.00,9.97:0.00,3.65:0.00,6.32:0.00,0.78:0.00,0.73:0.00,0.97:60,60:6.0,92.3:0,0:0,0:58,109:83,41:11,3:-,NM_015910.5(WDPCP) c.75+37958T>G:-,NOT_FOUND:-,NOT_FOUND 2 63815206 rs1109027 A G 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.8914,G/0.1086;Gene=WDPCP/NM_015910.5/1;CC=c.75+125T>C;VC=Intron;DM=WDPCP/DUF3312;DM=WDPCP/DUF3312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:37:0:0:19,19:584,526:0.00,50.13:0.00,46.65:0.00,3.48:0.00,1.00:0.00,1.00:0.00,0.67:60,60:2.8,32.7:0,0:0,0:74,56:77,93:26,47:-,NM_015910.5(WDPCP) c.75+125T>C:-,0.13:-,NOT_FOUND 2 63815406 . C . . NT END=63816177;NT GT ./. 2 63816181 . G . . NT END=63816284;NT GT ./. 2 63816519 . G . . NT END=63821621;NT GT ./. 2 63816672 rs10469944 C G 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.1254,G/0.8746;PC=0.700;Gene=MDH1/NM_001316374/0;CC=c.3+492C>G;VC=Intron;Gene=MDH1/NM_005917.3/1;CC=c.3+492C>G;VC=Intron;Gene=MDH1/NM_001199111.1/0;CC=c.57+154C>G;VC=Intron;Gene=MDH1/NM_001199112.1/0;CC=c.-168+154C>G;VC=Intron;DM=MDH1/Ldh_1_C;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:0:0:0:14:441:50.75:0.00:50.75:1.00:0.00:1.00:60:42.8:0:0:92:59:27:NM_001199111.1(MDH1) c.57+154C>G,NM_001199111.1(MDH1) c.57+154C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 63816776 rs10469945 T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1254,C/0.8746;Gene=MDH1/NM_001316374/0;CC=c.3+596T>C;VC=Intron;Gene=MDH1/NM_005917.3/1;CC=c.3+596T>C;VC=Intron;Gene=MDH1/NM_001199111.1/0;CC=c.57+258T>C;VC=Intron;Gene=MDH1/NM_001199112.1/0;CC=c.-168+258T>C;VC=Intron;DM=MDH1/Ldh_1_C;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:49.5:0:0:119:32:28:NM_001199111.1(MDH1) c.57+258T>C,NM_001199111.1(MDH1) c.57+258T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 63821721 . G . . NT END=63822556;NT GT ./. 2 63822654 . G . . NT END=63824402;NT GT ./. 2 63824306 rs11125979 T G 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6204,G/0.3796;Gene=MDH1/NM_001316374/0;CC=c.200-227T>G;VC=Intron;Gene=MDH1/NM_005917.3/1;CC=c.200-227T>G;VC=Intron;Gene=MDH1/NM_001199111.1/0;CC=c.254-227T>G;VC=Intron;Gene=MDH1/NM_001199112.1/0;CC=c.-68-227T>G;VC=Intron;DM=MDH1/Ldh_1_C;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_N;DM=MDH1/Ldh_1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:23:0:0:10,13:350,367:32.95,0.00:29.60,0.00:3.34,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:44.9,12.3:0,0:0,0:45,36:105,114:24,32:NM_001199111.1(MDH1) c.254-227T>G,-:0.37,-:NOT_FOUND,- 2 63824407 . G . . NT END=63824532;NT GT ./. 2 63824709 . G . . NT END=63826303;NT GT ./. 2 63826427 . G . . NT END=63831829;NT GT ./. 2 63826528 rs7606045 T G 115 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.227,G/0.773;Gene=MDH1/NM_001316374/0;CC=c.498+102T>G;VC=Intron;Gene=MDH1/NM_005917.3/1;CC=c.498+102T>G;VC=Intron;Gene=MDH1/NM_001199111.1/0;CC=c.552+102T>G;VC=Intron;Gene=MDH1/NM_001199112.1/0;CC=c.231+102T>G;VC=Intron;DM=MDH1/Ldh_1_C;DM=MDH1/Ldh_1_C;DM=MDH1/Ldh_1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:3:0:0:31:1001:114.86:11.93:102.93:1.00:1.00:1.00:60:43.0:0:0:117:34:25:NM_001199111.1(MDH1) c.552+102T>G,NM_001199111.1(MDH1) c.552+102T>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 63832007 . G . . NT END=63832413;NT GT ./. 2 63832528 . G . . NT END=63833072;NT GT ./. 2 63832776 rs2604613 G A 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1256,A/0.8744;PC=0.001;Gene=MDH1/NM_001316374/0;CC=c.789+249G>A;VC=Intron;Gene=MDH1/NM_005917.3/1;CC=c.789+249G>A;VC=Intron;Gene=MDH1/NM_001199111.1/0;CC=c.843+249G>A;VC=Intron;Gene=MDH1/NM_001199112.1/0;CC=c.522+249G>A;VC=Intron;DM=MDH1/Ldh_1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:3:0:0:9:304:34.69:11.03:23.66:1.00:1.00:1.00:60:42.0:0:0:91:59:34:NM_001199111.1(MDH1) c.843+249G>A,NM_001199111.1(MDH1) c.843+249G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 63833163 . G . . NT END=63833995;NT GT ./. 2 63833813 rs262473 G T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.126,T/0.874;Gene=MDH1/NM_001316374/0;CC=c.880-183G>T;VC=Intron;Gene=MDH1/NM_005917.3/1;CC=c.880-183G>T;VC=Intron;Gene=MDH1/NM_001199111.1/0;CC=c.934-183G>T;VC=Intron;Gene=MDH1/NM_001199112.1/0;CC=c.613-183G>T;VC=Intron;DM=MDH1/Ldh_1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:212:24.53:24.53:0.00:1.00:1.00:0.00:60:48.1:0:0:55:78:27:NM_001199111.1(MDH1) c.934-183G>T,NM_001199111.1(MDH1) c.934-183G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 63834122 . C . . NT END=64069319;NT GT ./. 2 63849200 rs71393320 CT C 19 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CT/0.7278,C/0.2722;DB;DBA=NA;PAF=CT/0.7278,C/0.2722;NP=9;PC=0.049;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:CT,C:11:12:0:7:5,6:151,229:0.00,19.16:0.00,19.16:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:55.4,86.2:0,1:0,0:42,41:109,109:39,16:-,chr2 g.63849201delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 63849491 rs262496 T C 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.6304,C/0.3696;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:36:0:0:26,32:889,997:84.01,0.00:51.49,0.00:32.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,6.4:0,0:0,0:58,58:91,92:42,44:chr2 g.63849490T>C (intergenic),-:0.36,-:NOT_FOUND,- 2 63878588 rs66833447 A AACACACACAC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.128,AACACAC/.,AACACACAC/0.872;DB;DBA=NA;PAF=A/0.128,AACACAC/.,AACACACAC/0.872,AACACACACAC/.;NP=2;NP=2;NP=3;PC=0.001;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:AACACACACAC:3:3:4:0:3:125:10.15:4.93:5.23:0.85:0.99:0.95:60:67.0:1:0:44:106:30:chr2 g.63878588_63878589insACACACACAC (intergenic),chr2 g.63878588_63878589insACACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 63878608 rs262486 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1256,C/0.8744;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:140:15.91:7.85:8.05:1.00:1.00:1.00:60:50.2:0:0:72:78:28:chr2 g.63878607G>C (intergenic),chr2 g.63878607G>C (intergenic):0.84,0.84:NOT_FOUND,NOT_FOUND 2 63911500 rs6723875 C T 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7592,T/0.2408;PC=0.964 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:10:9:0:0:4,6:114,202:0.00,20.16:0.00,13.09:0.00,7.07:0.00,0.99:0.00,1.00:0.00,0.78:60,60:2.2,33.7:0,0:0,0:117,57:31,88:12,22:-,chr2 g.63911499C>T (intergenic):-,0.25:-,NOT_FOUND 2 63911816 rs2054120 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.89,A/0.11;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:6:3:0:0:3,3:100,105:9.62,0.00:3.43,0.00:6.20,0.00:0.73,0.00:0.89,0.00:0.73,0.00:60,60:33.3,4.0:0,0:0,0:130,99:20,52:1,6:chr2 g.63911815G>A (intergenic),-:0.14,-:NOT_FOUND,- 2 63918988 rs2168274 T A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4541,A/0.5459 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,T:4:4:0:0:3,1:89,30:9.35,0.00:5.65,0.00:3.70,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:40.7,0.0:0,0:0,0:66,146:83,4:8,0:chr2 g.63918987T>A (intergenic),-:0.54,-:NOT_FOUND,- 2 64009874 rs72404710 ATG A 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=ATG/0.7206,A/0.2794;DB;DBA=NA;PAF=ATG/0.7206,A/0.2794;NP=31;PC=0.003;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:ATG,I,A:8:6:2:3:3,2,3:79,64,98:0.00,5.78,9.35:0.00,6.03,6.60:0.00,-0.25,2.75:0.00,0.00,0.67:0.00,0.00,0.93:0.00,0.00,0.85:60,60,60:10.0,12.0,3.3:0,0,0:0,0,0:26,57,90:95,92,60:25,28,1:-,chr2 g.64009875_64009876delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 64021004 rs67385053 TTG T 11 sb,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;PC=0.003;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TTG,T:5:4:0:4:1,4:34,104:0.00,10.95:0.00,9.00:0.00,1.95:0.00,0.96:0.00,1.00:0.00,0.99:60,60:0.0,2.8:0,0:0,0:118,85:33,65:0,1:-,chr2 g.64021005_64021006delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 64069277 rs78573846 GA G 29 idl,rn VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=39;PC=0.685;Gene=UGP2/NM_001001521.1/1;CC=c.-15+926delA;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.-28delA;VC=5UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:67:64:5:19:1,50,5,11:30,1622,157,542:1.33,0.00,10.73,28.66:-0.24,0.00,7.68,26.39:1.57,0.00,3.05,2.27:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.91:60,60,60,60:126.0,23.8,28.0,74.1:1,1,0,7:0,0,0,0:90,52,18,59:60,94,130,92:0,35,11,24:-,NM_006759.3(UGP2) c.-42A[14]:-,NOT_FOUND:-,NOT_FOUND 2 64069311 rs4671534 G C 117 nt VT=SNV;PN=A;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.9065,C/0.09345;PC=0.580;Gene=UGP2/NM_001001521.1/1;CC=c.-15+945G>C;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.-9G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:100:79:0:0:4,39,57:54,1266,1827:1.45,117.04,0.00:1.85,74.43,0.00:-0.40,42.61,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:102.8,43.0,19.2:0,0,0:0,0,0:80,42,49:63,107,94:7,32,28:NM_006759.3(UGP2) c.-9G>C,-:0.11,-:0.142934,- 2 64069339 . G . . NT END=64069463;NT GT ./. 2 64069572 . G . . NT END=64069672;NT GT ./. 2 64069732 rs6546029 G A 429 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.1563,A/0.8437;PC=0.510;Gene=UGP2/NM_001001521.1/1;CC=c.-15+1366G>A;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.19+394G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:111:54:0:0:111:3758:428.65:138.75:289.91:1.00:1.00:1.00:60:41.2:0:0:88:55:35:NM_006759.3(UGP2) c.19+394G>A,NM_006759.3(UGP2) c.19+394G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 64069734 . G . . NT END=64083439;NT GT ./. 2 64083568 . G . . NT END=64084962;NT GT ./. 2 64085071 . G . . NT END=64109599;NT GT ./. 2 64085114 rs10183479 G A 155 nt VT=SNV;PN=G;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.1554,A/0.8446;Gene=UGP2/NM_001001521.1/1;CC=c.222+44G>A;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.255+44G>A;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A:43:9:0:0:43:1349:155.40:18.93:136.46:1.00:1.00:1.00:60:34.3:0:0:112:38:21:NM_006759.3(UGP2) c.255+44G>A,NM_006759.3(UGP2) c.255+44G>A:0.84,0.84:0.820186,0.820186 2 64109786 . G . . NT END=64111093;NT GT ./. 2 64111228 . G . . NT END=64112722;NT GT ./. 2 64112428 rs12713498 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2654,T/0.7346;Gene=UGP2/NM_001001521.1/1;CC=c.543-295C>T;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.576-295C>T;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:119:13.80:13.80:0.00:1.00:1.00:0.00:60:36.2:0:0:69:81:21:NM_006759.3(UGP2) c.576-295C>T,NM_006759.3(UGP2) c.576-295C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 2 64112706 . CT C 13 idl;end,rn VT=DEL;SST=Single;DP=62;NP=79;PC=0.431;Gene=UGP2/NM_001001521.1/1;CC=c.543-5delT;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.576-5delT;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP;DM=UGP2/UDPGP;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CT,G,I,C:61:55:6:6:49,1,5,6:1524,10,187,188:0.00,-0.19,10.64,13.42:0.00,-0.11,5.03,11.19:0.00,-0.08,5.62,2.23:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.80:60,60,60,60:13.5,132.0,13.0,2.3:0,0,1,0:0,0,0,0:61,89,49,8:85,17,86,136:38,0,16,3:-,NM_006759.3(UGP2) c.576-16delT:-,NOT_FOUND:-,NOT_FOUND 2 64113021 . G . . NT END=64113474;NT GT ./. 2 64113202 rs34145077 G T 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8976,T/0.1024;PC=0.186;Gene=UGP2/NM_001001521.1/1;CC=c.840+182G>T;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.873+182G>T;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:17:6:0:0:1,9,7:7,268,239:-0.02,0.00,22.47:0.11,0.00,2.27:-0.13,0.00,20.20:0.00,0.00,0.98:0.00,0.00,0.95:0.00,0.00,0.99:60,60,60:36.0,14.3,34.1:0,0,0:0,0,0:103,46,91:48,104,59:0,35,10:-,NM_006759.3(UGP2) c.873+182G>T:-,0.13:-,NOT_FOUND 2 64113673 . G . . NT END=64114535;NT GT ./. 2 64114779 . G . . NT END=64117214;NT GT ./. 2 64117320 . G . . NT END=64118253;NT GT ./. 2 64117423 rs543356344 G A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.893,A/0.107;NP=3;Gene=UGP2/NM_001001521.1/1;CC=c.1386+104G>A;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+104G>A;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:7:0:0:0:3,4:97,139:9.05,0.00:0.00,0.00:9.05,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:180.7,0.0:0,0:0,0:49,82:101,68:8,16:NM_006759.3(UGP2) c.1419+104G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 64117425 rs561846564 G T 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.893,T/0.107;Gene=UGP2/NM_001001521.1/1;CC=c.1386+106G>T;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+106G>T;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:G,T:7:0:0:0:4,3:140,98:0.00,9.16:0.00,0.00:0.00,9.16:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,180.7:0,3:0,0:84,51:66,99:16,8:-,NM_006759.3(UGP2) c.1419+106G>T:-,NOT_FOUND:-,NOT_FOUND 2 64117426 rs529034843 C A 9 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.893,A/0.107;Gene=UGP2/NM_001001521.1/1;CC=c.1386+107C>A;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+107C>A;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,C:7:0:0:0:3,4:97,130:9.06,0.00:0.00,0.00:9.06,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:180.7,0.0:6,0:0,0:52,85:98,65:8,16:NM_006759.3(UGP2) c.1419+107C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 64117428 rs201713347 AC A 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=UGP2/NM_001001521.1/1;CC=c.1386+111delC;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+111delC;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:AC,A:6:0:0:3:3,3:98,100:0.00,9.63:0.00,0.00:0.00,9.63:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,180.7:0,3:0,0:84,54:66,96:6,8:-,NM_006759.3(UGP2) c.1419+110delC:-,0.11:-,NOT_FOUND 2 64117431 rs541205836 T TAG 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8982,TAG/0.1018;Gene=UGP2/NM_001001521.1/1;CC=c.1386+112_1386+113insAG;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+112_1419+113insAG;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:T,TAG:6:0:3:0:3,3:101,101:0.00,9.72:0.00,0.00:0.00,9.72:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,180.7:0,3:0,0:87,56:63,94:6,8:-,NM_006759.3(UGP2) c.1419+112_1419+113insAG:-,NOT_FOUND:-,NOT_FOUND 2 64117437 . ACT A 9 nt VT=DEL;SST=Single;DP=6;PC=0.001;Gene=UGP2/NM_001001521.1/1;CC=c.1386+119_1386+120delCT;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+119_1419+120delCT;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:ACT,A:6:0:0:3:3,3:98,98:0.00,9.42:0.00,0.00:0.00,9.42:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,180.7:0,0:0,0:93,64:57,86:6,8:-,NM_006759.3(UGP2) c.1419+119_1419+120delCT:-,NOT_FOUND:-,NOT_FOUND 2 64117440 rs201342142 A AG 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=UGP2/NM_001001521.1/1;CC=c.1386+122dupG;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+122dupG;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,AG:6:0:3:0:3,3:108,96:0.00,9.22:0.00,0.00:0.00,9.22:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,180.7:0,3:0,0:96,65:54,85:6,8:-,NM_006759.3(UGP2) c.1419+121_1419+122insG:-,0.11:-,NOT_FOUND 2 64117444 rs540886904 T G 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.893,G/0.107;PC=0.001;Gene=UGP2/NM_001001521.1/1;CC=c.1386+125T>G;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+125T>G;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:G,T:6:0:0:0:2,4:71,109:6.40,0.00:0.00,0.00:6.40,0.00:0.42,0.00:0.00,0.00:0.42,0.00:60,60:196.0,37.5:2,1:0,0:88,86:62,62:18,17:NM_006759.3(UGP2) c.1419+125T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 64117445 rs559363558 A C 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.893,C/0.107;Gene=UGP2/NM_001001521.1/1;CC=c.1386+126A>C;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+126A>C;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,C:6:0:0:0:3,3:100,78:0.00,7.41:0.00,0.00:0.00,7.41:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,180.7:0,3:0,0:101,71:49,79:6,8:-,NM_006759.3(UGP2) c.1419+126A>C:-,NOT_FOUND:-,NOT_FOUND 2 64117447 rs372889960 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.893,C/0.107;DB;DBA=NA;PAF=NA;Gene=UGP2/NM_001001521.1/1;CC=c.1386+128T>C;VC=Intron;Gene=UGP2/NM_006759.3/0;CC=c.1419+128T>C;VC=Intron;DM=UGP2/UDPGP;DM=UGP2/UDPGP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:6:0:0:0:3,3:101,100:9.72,0.00:0.00,0.00:9.72,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:180.7,0.0:0,0:0,0:73,103:77,47:8,6:NM_006759.3(UGP2) c.1419+128T>C,-:0.14,-:NOT_FOUND,- 2 64118362 . A . . NT END=64120563;NT GT ./. 2 64120670 . C . . NT END=64124629;NT GT ./. 2 64124725 . C . . NT END=64126607;NT GT ./. 2 64124893 rs17620012 T C 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8972,C/0.1028;Gene=VPS54/NM_001005739.1/0;CC=c.2698-169A>G;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.2734-169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:7:0:0:0:4,3:120,96:11.83,0.00:0.00,0.00:11.83,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:32.8,0.0:0,0:0,0:121,102:27,49:9,39:NM_016516.2(VPS54) c.2734-169A>G,-:0.13,-:NOT_FOUND,- 2 64126716 . C . . NT END=64139478;NT GT ./. 2 64126765 rs3815616 A G 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.896,G/0.104;Gene=VPS54/NM_001005739.1/0;CC=c.2590-50T>C;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.2626-50T>C;VC=Intron;DM=VPS54/Vps54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:10:0:0:10,14:316,488:0.00,48.40:0.00,4.19:0.00,44.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,38.8:0,0:0,0:116,98:34,51:24,25:-,NM_016516.2(VPS54) c.2626-50T>C:-,0.14:-,0.16823 2 64139560 . C . . NT END=64139673;NT GT ./. 2 64139796 . C . . NT END=64140356;NT GT ./. 2 64139831 . TA T 15 idl,rn VT=DEL;SST=Single;DP=37;NP=51;PC=0.010;Gene=VPS54/NM_001005739.1/0;CC=c.2387-37delT;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.2423-37delT;VC=Intron;DM=VPS54/Vps54;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:TA,I,T:36:20:2:8:28,2,6:840,61,227:0.00,3.85,15.28:0.00,1.06,5.16:0.00,2.79,10.13:0.00,0.00,0.88:0.00,0.00,0.93:0.00,0.00,0.98:60,60,60:13.1,25.0,13.2:0,0,1:0,0,0:105,83,64:41,68,40:28,41,14:-,NM_016516.2(VPS54) c.2423-37delT:-,NOT_FOUND:-,NOT_FOUND 2 64139901 rs2302809 A T 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.3464,T/0.6536;Gene=VPS54/NM_001005739.1/0;CC=c.2387-106T>A;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.2423-106T>A;VC=Intron;DM=VPS54/Vps54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:5:0:0:12,8:338,244:0.00,22.36:0.00,4.78:0.00,17.59:0.00,0.99:0.00,0.46:0.00,1.00:60,60:26.2,33.4:0,0:0,0:111,120:36,30:8,20:-,NM_016516.2(VPS54) c.2423-106T>A:-,0.65:-,NOT_FOUND 2 64140301 rs10207847 A T 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.3452,T/0.6548;Gene=VPS54/NM_001005739.1/0;CC=c.2386+56T>A;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.2422+56T>A;VC=Intron;DM=VPS54/Vps54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:31:31:0:0:15,16:490,402:0.00,38.41:0.00,35.76:0.00,2.65:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.3,32.1:0,0:0,0:54,50:97,101:37,37:-,NM_016516.2(VPS54) c.2422+56T>A:-,0.65:-,0.809242 2 64140445 . C . . NT END=64140958;NT GT ./. 2 64141060 . C . . NT END=64141315;NT GT ./. 2 64141422 . C . . NT END=64144033;NT GT ./. 2 64144098 . C . . NT END=64147016;NT GT ./. 2 64147130 . C . . NT END=64147579;NT GT ./. 2 64147762 . C . . NT END=64148339;NT GT ./. 2 64147917 rs66595136 G A 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8986,A/0.1014;PC=0.014;Gene=VPS54/NM_001005739.1/0;CC=c.1834-156C>T;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.1870-156C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:A,G:12:0:0:0:7,5:218,143:21.61,0.00:0.00,0.00:21.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.6,2.4:0,0:0,0:52,77:99,73:48,24:NM_016516.2(VPS54) c.1870-156C>T,-:0.13,-:NOT_FOUND,- 2 64148470 . C . . NT END=64160806;NT GT ./. 2 64161148 . C . . NT END=64169598;NT GT ./. 2 64165193 rs9309357 G GTGGTGTGTGT 22 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;NP=4;PC=0.049;Gene=VPS54/NM_001005739.1/0;CC=c.1363-4047_1363-4046insACACACACCA;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.1399-4047_1399-4046insACACACACCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:G,GTGGTGTGTGT:7:4:7:1:1,6:34,225:0.00,21.51:0.00,4.98:0.00,16.53:0.00,1.00:0.00,0.85:0.00,1.00:60,70:131.0,16.3:0,1:0,0:5,110:146,24:0,24:-,NM_016516.2(VPS54) c.1399-4047_1399-4046insACACACACCA:-,NOT_FOUND:-,NOT_FOUND 2 64169696 . C . . NT END=64171733;NT GT ./. 2 64171790 . C . . NT END=64174516;NT GT ./. 2 64174625 . C . . NT END=64176170;NT GT ./. 2 64176298 . C . . NT END=64189191;NT GT ./. 2 64189578 . C . . NT END=64192968;NT GT ./. 2 64193101 . C . . NT END=64196090;NT GT ./. 2 64195997 rs76368302 C CA 20 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6915,CA/0.2913,CAAA/0.01717;DB;DBA=NA;PAF=C/0.6915,CA/0.2913;DB;DBA=NA;PAF=C/0.6915,CA/0.2913;DB;DBA=NA;PAF=NA;NP=1;NP=105;Gene=VPS54/NM_001005739.1/0;CC=c.456+93dupT;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.492+93dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,C,CA,D:18:21:10:5:1,7,7,3:8,212,306,156:0.08,0.00,19.62,7.85:0.10,0.00,17.22,7.91:-0.02,0.00,2.41,-0.06:0.00,0.00,0.97,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.60,0.00:60,60,70,60:154.0,6.3,21.7,3.7:0,0,3,2:0,0,0,0:112,51,28,51:26,100,123,99:0,51,22,34:-,NM_016516.2(VPS54) c.492+93_492+94insT:-,NOT_FOUND:-,NOT_FOUND 2 64196126 . C . . NT END=64199299;NT GT ./. 2 64199379 . C . . NT END=64208779;NT GT ./. 2 64209022 . C . . NT END=64210997;NT GT ./. 2 64210875 rs13025640 C A 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.047;Gene=VPS54/NM_001005739.1/0;CC=c.136+123G>T;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.136+123G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:27:0:0:15,12:463,343:45.42,0.00:43.78,0.00:1.63,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:45.4,15.8:0,0:0,0:62,69:89,81:10,19:NM_016516.2(VPS54) c.136+123G>T,-:0.13,-:NOT_FOUND,- 2 64210979 . C CA 17 idl,rn VT=INS;SST=Single;DP=89;PC=0.001;Gene=VPS54/NM_001005739.1/0;CC=c.136+18dupT;VC=Intron;Gene=VPS54/NM_016516.2/1;CC=c.136+18dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,CA,D:88:74:8:8:73,8,7:2376,249,264:0.00,17.38,16.22:0.00,12.82,14.44:0.00,4.55,1.78:0.00,0.93,0.00:0.00,0.99,0.00:0.00,0.94,0.00:60,60,60:21.4,30.0,0.0:0,0,1:0,0,0:54,43,53:91,108,79:22,21,25:-,NM_016516.2(VPS54) c.136+18_136+19insT:-,NOT_FOUND:-,NOT_FOUND 2 64211134 . T . . NT END=64321835;NT GT ./. 2 64322403 . C . . NT END=64323258;NT GT ./. 2 64323448 . C . . NT END=64323546;NT GT ./. 2 64323745 . C . . NT END=64327531;NT GT ./. 2 64323751 rs368871090 GA G 19 rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=63;PC=0.296;Gene=PELI1/NM_020651.3/1;CC=c.304-8delT;VC=Intron;DM=PELI1/Pellino;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,GA,I,G:45:17:3:8:1,33,3,8:19,975,85,239:0.47,0.00,5.43,18.92:0.31,0.00,-0.27,2.26:0.16,0.00,5.70,16.66:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.92:0.00,0.00,0.00,1.00:60,60,60,60:167.0,13.7,27.7,9.5:0,0,0,0:0,0,0,0:97,87,104,102:54,55,46,43:0,28,5,29:-,NM_020651.3(PELI1) c.304-8delT:-,NOT_FOUND:-,NOT_FOUND 2 64327544 rs329498 G T 45 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6444,A/.,C/.,T/0.3556;PC=0.569;Gene=PELI1/NM_020651.3/1;CC=c.291C>A;ProtCh=p.T97=;VC=Silent;DM=PELI1/Pellino GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:19:0:0:9,13:231,450:0.00,44.86:0.00,29.02:0.00,15.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,66.7:0,0:0,0:37,50:102,100:25,42:-,NM_020651.3(PELI1) c.291C>A (p.(=)):-,0.37:-,0.247578 2 64327592 rs329497 T C 50 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6498,C/0.3502,G/.;PC=0.991;Gene=PELI1/NM_020651.3/1;CC=c.243A>G;ProtCh=p.L81=;VC=Silent;DM=PELI1/Pellino GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:12:0:0:15,8:492,262:49.88,0.00:14.68,0.00:35.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.8,5.2:0,0:0,0:80,73:71,71:25,20:NM_020651.3(PELI1) c.243A>G (p.(=)),-:0.37,-:0.24235,- 2 64327634 . C . . NT END=64331687;NT GT ./. 2 64331722 . A . . NT END=64331834;NT GT ./. 2 64331815 rs537000200 CT C 52 idl,rn VT=DEL;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=23;Gene=PELI1/NM_020651.3/1;CC=c.201+19delA;VC=Intron;DM=PELI1/Pellino;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,G,T,I,C:60:58:3:32:38,1,1,2,18:1205,10,9,96,1031:0.00,-0.09,-0.12,3.77,52.02:0.00,-0.11,-0.01,0.82,42.46:0.00,0.02,-0.10,2.95,9.56:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:38.7,74.0,79.0,87.5,44.1:0,0,0,1,14:0,0,0,0,0:85,76,97,44,53:64,75,18,93,97:38,0,0,9,31:-,NM_020651.3(PELI1) c.201+19delA:-,NOT_FOUND:-,NOT_FOUND 2 64331965 . C . . NT END=64335373;NT GT ./. 2 64335445 . G . . NT END=64681679;NT GT ./. 2 64584691 rs10198167 C G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=10;PC=0.029 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,G:9:6:0:0:2,7:71,228:0.00,24.06:0.00,13.26:0.00,10.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,45.4:2,2:0,0:126,70:24,60:1,28:-,chr2 g.64584690C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 64602940 . T C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;NP=7;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:7:6:0:0:4,3:101,60:9.91,0.00:9.01,0.00:0.91,0.00:0.90,0.00:0.99,0.00:0.85,0.00:37,50:111.5,111.3:0,0:0,0:94,60:47,90:23,40:chr2 g.64602939T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 64602978 rs201800089 T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=21;PC=0.414 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:C,T:7:7:0:0:3,4:83,125:7.65,0.00:7.90,0.00:-0.24,0.00:0.69,0.00:0.69,0.00:0.73,0.00:28,50:161.0,89.2:0,0:0,0:121,29:10,81:22,7:chr2 g.64602977T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 64603060 rs62649814 A C 14 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1910 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C:5:4:0:0:1,4:12,132:0.00,14.06:0.00,8.49:0.00,5.57:0.00,0.96:0.00,1.00:0.00,0.97:4,17:146.0,103.0:0,0:0,0:140,64:11,61:0,20:-,chr2 g.64603059A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 64603206 rs140818980 T C 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=60 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:6:3:0:1:3,3:77,100:7.29,0.00:1.49,0.00:5.80,0.00:0.73,0.00:0.89,0.00:0.73,0.00:28,33:142.0,11.3:0,1:0,0:53,16:69,63:29,12:chr2 g.64603205T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 64681716 . G . . NT END=64682477;NT GT ./. 2 64682364 rs3770741 A C 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4321,C/0.5679;PC=0.025;Gene=LGALSL/NM_014181.2/1;CC=c.37-114A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:401:46.29:46.29:0.00:1.00:1.00:0.00:60:51.6:0:0:20:130:12:NM_014181.2(LGALSL) c.37-114A>C,NM_014181.2(LGALSL) c.37-114A>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 64682406 rs151252901 C T 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9944,T/0.005591;NP=64;PC=0.006;Gene=LGALSL/NM_014181.2/1;CC=c.37-72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:8,13:253,401:0.00,40.25:0.00,36.94:0.00,3.31:0.00,1.00:0.00,1.00:0.00,0.95:60,60:16.0,52.7:0,0:0,0:39,53:112,97:14,21:-,NM_014181.2(LGALSL) c.37-72C>T:-,0.01:-,NOT_FOUND 2 64682550 . G . . NT END=64682722;NT GT ./. 2 64682812 . G . . NT END=64683421;NT GT ./. 2 64683062 rs3083174 ATT A 17 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=ATT/0.2788,A/0.7212;DB;DBA=NA;PAF=ATT/0.2788,A/0.7212;NP=2;PC=0.623;Gene=LGALSL/NM_014181.2/1;CC=c.197+267_197+268delTT;VC=Intron;DM=LGALSL/Gal-bind_lectin;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:ATT,A:7:1:0:7:2,5:66,228:0.00,17.00:0.00,3.52:0.00,13.48:0.00,0.96:0.00,0.70:0.00,1.00:60,60:0.0,27.6:0,2:0,0:140,102:10,42:1,12:-,NM_014181.2(LGALSL) c.197+252_197+253delTT:-,NOT_FOUND:-,NOT_FOUND 2 64683600 . G . . NT END=64685418;NT GT ./. 2 64685563 . T . . NT END=64778608;NT GT ./. 2 64780544 . G . . NT END=64794695;NT GT ./. 2 64780653 rs149538824 C T 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9962,T/0.003794;NP=3;Gene=AFTPH/NM_001002243.2/0;CC=c.1935+110C>T;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.1935+110C>T;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.1935+110C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:11,8:266,278:0.00,26.08:0.00,0.00:0.00,26.08:0.00,0.99:0.00,0.00:0.00,0.99:60,60:15.2,34.8:0,0:0,0:97,74:53,76:21,24:-,NM_203437.3(AFTPH) c.1935+110C>T:-,0.01:-,NOT_FOUND 2 64794848 . G . . NT END=64796225;NT GT ./. 2 64794945 rs7598893 G A 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6761,A/0.3239;Gene=AFTPH/NM_001002243.2/0;CC=c.2087+98G>A;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2087+98G>A;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2087+98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:3:0:0:17,9:520,306:52.79,0.00:5.39,0.00:47.40,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:31.1,16.2:0,0:0,0:116,102:35,49:11,26:NM_203437.3(AFTPH) c.2087+98G>A,-:0.3,-:NOT_FOUND,- 2 64795031 rs11326959 CA C 19 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CA/0.6769,C/0.3231;NP=212;PC=0.001;Gene=AFTPH/NM_001002243.2/0;CC=c.2087+185delA;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2087+185delA;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2087+185delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:CA,C:11:0:0:6:5,6:176,195:0.00,19.07:0.00,0.00:0.00,19.07:0.00,0.98:0.00,0.00:0.00,0.98:60,60:1.6,19.8:0,0:0,0:70,83:81,66:6,12:-,NM_203437.3(AFTPH) c.2087+185delA:-,0.3:-,NOT_FOUND 2 64796353 . G . . NT END=64796756;NT GT ./. 2 64796479 rs6546087 C T 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.4431,T/0.5569;Gene=AFTPH/NM_001002243.2/0;CC=c.2214+127C>T;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2214+127C>T;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2214+127C>T;VC=Intron;DM=AFTPH/Clathrin_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:5:0:0:18,11:582,349:0.00,31.79:0.00,3.71:0.00,28.08:0.00,1.00:0.00,0.90:0.00,1.00:60,60:9.8,37.6:0,0:0,0:95,84:55,66:31,49:-,NM_203437.3(AFTPH) c.2214+127C>T:-,0.52:-,NOT_FOUND 2 64796814 . G . . NT END=64800079;NT GT ./. 2 64796847 rs2287532 A G 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.6815,G/0.3185;PC=0.019;Gene=AFTPH/NM_001002243.2/0;CC=c.2271+34A>G;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2271+34A>G;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2271+34A>G;VC=Intron;DM=AFTPH/Clathrin_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:12:0:0:14,17:469,567:0.00,55.54:0.00,12.81:0.00,42.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,39.6:0,0:0,0:112,89:29,40:23,33:-,NM_203437.3(AFTPH) c.2271+34A>G:-,0.3:-,0.359296 2 64796932 rs2287533 G A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6825,A/0.3175;Gene=AFTPH/NM_001002243.2/0;CC=c.2271+119G>A;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2271+119G>A;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2271+119G>A;VC=Intron;DM=AFTPH/Clathrin_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,G:9:0:0:0:4,5:139,158:13.12,0.00:0.00,0.00:13.12,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:59.8,7.0:0,0:0,0:110,129:41,22:28,13:NM_203437.3(AFTPH) c.2271+119G>A,-:0.3,-:NOT_FOUND,- 2 64799937 rs570389054 TAA T 9 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=550;PC=0.047;Gene=AFTPH/NM_001002243.2/0;CC=c.2272-131_2272-130delAA;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2272-131_2272-130delAA;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2272-131_2272-130delAA;VC=Intron;DM=AFTPH/Clathrin_bdg;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:TAA,T:11:13:0:5:8,3:258,162:0.00,8.61:0.00,3.91:0.00,4.70:0.00,0.58:0.00,0.58:0.00,0.66:60,60:16.8,16.7:0,2:0,0:68,31:80,118:33,29:-,NM_203437.3(AFTPH) c.2272-142_2272-141delAA:-,NOT_FOUND:-,NOT_FOUND 2 64800203 . G . . NT END=64806619;NT GT ./. 2 64803208 rs373565904 TAC T 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7;Gene=AFTPH/NM_001002243.2/0;CC=c.2394+3049_2394+3050delAC;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2394+3049_2394+3050delAC;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2394+3049_2394+3050delAC;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TAC,T:4:2:0:3:1,3:35,100:0.00,10.45:0.00,1.58:0.00,8.88:0.00,0.85:0.00,0.95:0.00,0.85:60,60:0.0,0.0:0,0:0,0:60,60:51,72:0,17:-,NM_203437.3(AFTPH) c.2394+3007_2394+3008delAC:-,NOT_FOUND:-,NOT_FOUND 2 64806681 . G . . NT END=64808323;NT GT ./. 2 64808408 . G . . NT END=64812555;NT GT ./. 2 64812680 . G . . NT END=64819018;NT GT ./. 2 64818824 rs3770722 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5118,T/0.4882;Gene=AFTPH/NM_001002243.2/0;CC=c.2580-198C>T;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2580-195C>T;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2664-198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,T:13:13:0:0:7,6:182,164:0.00,15.34:0.00,15.34:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:12.7,63.2:0,0:0,0:39,64:111,86:27,33:-,NM_203437.3(AFTPH) c.2664-198C>T:-,0.46:-,NOT_FOUND 2 64818864 rs3770720 T C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7706,C/0.2294;Gene=AFTPH/NM_001002243.2/0;CC=c.2580-158T>C;VC=Intron;Gene=AFTPH/NM_017657.4/0;CC=c.2580-155T>C;VC=Intron;Gene=AFTPH/NM_203437.3/1;CC=c.2664-158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:9,6:304,195:30.31,0.00:30.31,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:54.0,14.8:0,0:0,0:42,74:109,76:22,20:NM_203437.3(AFTPH) c.2664-158T>C,-:0.22,-:NOT_FOUND,- 2 64819170 . C . . NT END=64863060;NT GT ./. 2 64819249 rs397871677 T TAA 14 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=34;PC=1.000;Gene=AFTPH/NM_001002243.2/0;CC=c.*100_*101insAA;VC=3UTR;Gene=AFTPH/NM_017657.4/0;CC=c.*100_*101insAA;VC=3UTR;Gene=AFTPH/NM_203437.3/1;CC=c.*100_*101insAA;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:T,TAA,D:23:6:9:1:16,6,1:400,241,27:0.00,13.65,1.50:0.00,-0.29,-0.04:0.00,13.94,1.54:0.00,0.91,0.00:0.00,0.77,0.00:0.00,0.99,0.00:60,70,60:42.1,98.7,35.0:0,3,0:0,0,0:126,91,92:24,52,59:19,25,0:-,NM_203437.3(AFTPH) c.*81A[22]:-,NOT_FOUND:-,NOT_FOUND 2 64844249 rs66784934 T C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8225,C/0.1775;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:3:0:0:3,2:97,69:9.67,0.00:5.53,0.00:4.14,0.00:0.78,0.00:0.94,0.00:0.97,0.00:60,60:32.3,8.5:0,0:0,0:75,89:74,55:2,40:chr2 g.64844248T>C (intergenic),-:0.17,-:NOT_FOUND,- 2 64864006 . A . . NT END=65216777;NT GT ./. 2 64892858 rs2192898 G T 215 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.0635,T/0.9365;PC=0.989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:T:57:47:0:0:57:1874:214.57:121.29:93.28:1.00:1.00:1.00:60:39.3:0:0:63:87:23:chr2 g.64892857G>T (intergenic),chr2 g.64892857G>T (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 2 65217305 . G . . NT END=65228581;NT GT ./. 2 65228625 . G . . NT END=65231086;NT GT ./. 2 65231063 rs35470885 GT G 110 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=GT/0.8335,G/0.1665;NP=1394;PC=0.004;Gene=SLC1A4/NM_001193493.1/0;CC=c.-90-15delT;VC=Intron;Gene=SLC1A4/NM_003038.4/1;CC=c.571-15delT;VC=Intron;DM=SLC1A4/SDF;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:GT,G:34:27:0:33:2,32:41,1017:0.00,110.29:0.00,68.14:0.00,42.15:0.00,1.00:0.00,1.00:0.00,1.00:60,70:96.5,7.4:0,1:0,0:145,46:6,101:0,31:NM_003038.4(SLC1A4) c.571-23delT,NM_003038.4(SLC1A4) c.571-23delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 65231150 . G . . NT END=65237730;NT GT ./. 2 65237898 . G . . NT END=65243573;NT GT ./. 2 65243808 . G . . NT END=65245204;NT GT ./. 2 65245365 rs759458 G A 211 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.8081,A/0.1919;PC=0.004;Gene=SLC1A4/NM_001193493.1/0;CC=c.301G>A;ProtCh=p.V101I;VC=Missense;Gene=SLC1A4/NM_003038.4/1;CC=c.1195G>A;ProtCh=p.V399I;VC=Missense;DM=SLC1A4/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:137:72:0:0:68,69:2194,2278:210.56,0.00:84.96,0.00:125.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,5.2:0,0:0,0:88,95:53,52:30,28:NM_003038.4(SLC1A4) c.1195G>A (p.Val399Ile),-:0.18,-:0.232893,- 2 65245400 . G . . NT END=65245678;NT GT ./. 2 65245814 . G . . NT END=65248045;NT GT ./. 2 65247805 rs7559886 G T 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=179;Gene=SLC1A4/NM_001193493.1/0;CC=c.471-241G>T;VC=Intron;Gene=SLC1A4/NM_003038.4/1;CC=c.1365-241G>T;VC=Intron;DM=SLC1A4/SDF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:431:49.77:49.77:0.00:1.00:1.00:0.00:60:40.1:0:0:51:99:24:NM_003038.4(SLC1A4) c.1365-241G>T,NM_003038.4(SLC1A4) c.1365-241G>T:1,1:NOT_FOUND,NOT_FOUND 2 65248281 . T . . NT END=65296578;NT GT ./. 2 65296798 rs7572857 G A 203 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=G/0.8846,A/0.1154;Gene=CEP68/NM_015147.2/1;CC=c.220G>A;ProtCh=p.G74S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:146:91:0:0:64,82:2157,2413:202.84,0.00:90.09,0.00:112.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,5.5:0,0:0,0:66,56:85,93:45,41:NM_015147.2(CEP68) c.220G>A (p.Gly74Ser),-:0.11,-:0.129479,- 2 65296936 . G . . NT END=65298587;NT GT ./. 2 65298839 rs17849707 A G 163 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.7526,G/0.2474;Gene=CEP68/NM_015147.2/1;CC=c.609A>G;ProtCh=p.T203=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:136:92:0:0:77,1,58:2580,6,1751:0.00,-0.21,162.68:0.00,-0.12,95.94:0.00,-0.09,66.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.0,186.0,37.3:0,0,0:0,0,0:66,18,65:77,133,83:40,0,38:-,NM_015147.2(CEP68) c.609A>G (p.(=)):-,0.25:-,0.214516 2 65300115 . G . . NT END=65301415;NT GT ./. 2 65301539 . G . . NT END=65305001;NT GT ./. 2 65305099 . G . . NT END=65307409;NT GT ./. 2 65307267 . CA C 10 rn VT=DEL;SST=Single;DP=23;NP=12;PC=0.014;Gene=CEP68/NM_015147.2/1;CC=c.2104+2181delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,CA,I,C:23:19:1:4:1,17,1,4:11,542,33,122:0.07,0.00,2.09,9.66:-0.28,0.00,2.14,4.23:0.34,0.00,-0.05,5.43:0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.70:60,60,60,60:11.0,25.2,0.0,24.8:0,0,0,0:0,0,0,0:6,53,27,55:145,98,124,95:0,44,0,33:-,NM_015147.2(CEP68) c.2104+2170delA:-,NOT_FOUND:-,NOT_FOUND 2 65307379 rs1894874 T C 77 nt VT=SNV;PN=T;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.8972,C/0.1028;PC=0.001;Gene=CEP68/NM_015147.2/1;CC=c.2104+2281T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:48:0:0:26,37:828,1209:76.64,0.00:57.83,0.00:18.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,10.5:0,0:0,0:55,80:94,70:28,39:NM_015147.2(CEP68) c.2104+2281T>C,-:0.1,-:NOT_FOUND,- 2 65307713 . g . . NT END=65309669;NT GT ./. 2 65309439 rs78945874 A G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.897,G/0.103;Gene=CEP68/NM_015147.2/1;CC=c.2105-231A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:9:9:0:0:6,3:198,100:0.00,8.94:0.00,8.94:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:0.0,35.7:0,0:0,0:28,66:122,85:13,16:-,NM_015147.2(CEP68) c.2105-231A>G:-,0.1:-,NOT_FOUND 2 65309840 . C . . NT END=65315626;NT GT ./. 2 65309988 rs1420183 T C 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3652,C/0.6348;Gene=CEP68/NM_015147.2/1;CC=c.*4+145T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:8,12:284,375:26.38,0.00:0.00,0.00:26.38,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:35.5,5.8:0,0:0,0:104,99:46,51:11,38:NM_015147.2(CEP68) c.*4+145T>C,-:0.64,-:NOT_FOUND,- 2 65315825 . C . . NT END=65316072;NT GT ./. 2 65315880 rs1420184 G C 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3658,C/0.6342;PC=0.001;Gene=RAB1A/NM_004161.4/1;CC=c.421-56C>G;VC=Intron;Gene=RAB1A/NM_015543.1/0;CC=c.193-56C>G;VC=Intron;DM=RAB1A/Ras;DM=RAB1A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:11:0:0:21,13:701,428:70.28,0.00:17.18,0.00:53.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.2,2.8:0,0:0,0:94,107:55,43:38,34:NM_004161.4(RAB1A) c.421-56C>G,-:0.64,-:NOT_FOUND,- 2 65315903 rs1420185 G A 58 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.4407,A/0.5593;Gene=RAB1A/NM_004161.4/1;CC=c.421-79C>T;VC=Intron;Gene=RAB1A/NM_015543.1/0;CC=c.193-79C>T;VC=Intron;DM=RAB1A/Ras;DM=RAB1A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:8:0:0:18,12:586,401:58.42,0.00:13.03,0.00:45.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.9,2.8:0,0:0,0:90,79:61,71:32,39:NM_004161.4(RAB1A) c.421-79C>T,-:0.58,-:NOT_FOUND,- 2 65316205 . C . . NT END=65318116;NT GT ./. 2 65318213 . C . . NT END=65325104;NT GT ./. 2 65325201 . C . . NT END=65331867;NT GT ./. 2 65325265 rs76210337 A G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8988,G/0.1012;PC=0.006;Gene=RAB1A/NM_004161.4/1;CC=c.97-65T>C;VC=Intron;Gene=RAB1A/NM_015543.1/0;CC=c.97-65T>C;VC=Intron;DM=RAB1A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:8:1:0:1:3,5:94,125:0.00,12.56:0.00,1.97:0.00,10.59:0.00,0.97:0.00,0.75:0.00,1.00:60,60:7.3,70.2:1,0:0,0:125,124:25,27:22,24:-,NM_004161.4(RAB1A) c.97-65T>C:-,0.1:-,NOT_FOUND 2 65331941 . C . . NT END=65357026;NT GT ./. 2 65357050 . G . . NT END=65455043;NT GT ./. 2 65359224 rs11689448 C A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6701,A/0.3299;NP=40;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:119:13.80:7.35:6.45:1.00:1.00:1.00:60:40.2:0:0:59:70:36:NM_004161.4(RAB1A) c.-386-u1789G>T,NM_004161.4(RAB1A) c.-386-u1789G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 65399348 rs74181301 A ATATG 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=106;NP=26;NP=80;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:ATATG:3:2:4:0:3:132:10.86:3.60:7.25:0.85:0.95:0.85:60:43.3:1:0:74:76:23:chr2 g.65399348_65399349insTATG (intergenic),chr2 g.65399348_65399349insTATG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 65399372 rs56207677 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8167,G/0.1833;PC=0.058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:133:15.21:3.98:11.23:1.00:1.00:1.00:60:33.2:0:0:86:64:9:chr2 g.65399371A>G (intergenic),chr2 g.65399371A>G (intergenic):0.2,0.2:NOT_FOUND,NOT_FOUND 2 65432486 rs11887168 T A 275 nt VT=SNV;PN=T;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.9337,A/0.06629;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:75:56:0:0:75:2389:274.55:179.20:95.36:1.00:1.00:1.00:60:38.2:0:0:75:75:30:chr2 g.65432485T>A (intergenic),chr2 g.65432485T>A (intergenic):0.09,0.09:NOT_FOUND,NOT_FOUND 2 65432857 rs11887325 T C 458 nt VT=SNV;PN=A;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=T/0.9335,C/0.06649;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:128:66:0:0:2,125,1:45,4009,10:2.16,457.87,0.00:1.89,197.03,0.00:0.27,260.84,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:101.0,49.2,45.0:0,0,0:0,0,0:72,71,99:78,79,52:41,42,0:chr2 g.65432856T>C (intergenic),chr2 g.65432856T>C (intergenic):0.09,0.09:NOT_FOUND,NOT_FOUND 2 65432952 rs35295972 T C 428 nt VT=SNV;PN=T;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.9139,C/0.08606,G/.;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:120:72:0:0:120:3715:428.31:227.15:201.16:1.00:1.00:1.00:60:51.9:0:0:89:59:34:chr2 g.65432951T>C (intergenic),chr2 g.65432951T>C (intergenic):0.1,0.1:NOT_FOUND,NOT_FOUND 2 65433187 rs34004866 G A 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.9471,A/0.05292;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:2:0:0:39:1121:130.50:6.95:123.55:1.00:1.00:1.00:56:37.0:0:0:122:28:21:chr2 g.65433186G>A (intergenic),chr2 g.65433186G>A (intergenic):0.08,0.08:NOT_FOUND,NOT_FOUND 2 65455092 . G . . NT END=65466985;NT GT ./. 2 65455301 rs7566950 C T 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7332,T/0.2668;Gene=ACTR2/NM_001005386.2/1;CC=c.48+210C>T;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.48+210C>T;VC=Intron;DM=ACTR2/Actin;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:348:40.91:0.00:40.91:1.00:0.00:1.00:60:42.8:0:0:113:38:20:NM_001005386.2(ACTR2) c.48+210C>T,NM_001005386.2(ACTR2) c.48+210C>T:0.27,0.27:NOT_FOUND,NOT_FOUND 2 65467097 . G . . NT END=65469105;NT GT ./. 2 65469198 . G . . NT END=65473657;NT GT ./. 2 65473874 . G . . NT END=65478160;NT GT ./. 2 65477968 rs268854 G T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9409,T/0.05911;Gene=ACTR2/NM_001005386.2/1;CC=c.391-193G>T;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.376-193G>T;VC=Intron;DM=ACTR2/Actin;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:59.0:0:0:73:77:31:NM_001005386.2(ACTR2) c.391-193G>T,NM_001005386.2(ACTR2) c.391-193G>T:0.09,0.09:NOT_FOUND,NOT_FOUND 2 65478003 rs268853 C T 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1859,T/0.8141;Gene=ACTR2/NM_001005386.2/1;CC=c.391-158C>T;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.376-158C>T;VC=Intron;DM=ACTR2/Actin;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:290:33.29:33.29:0.00:1.00:1.00:0.00:60:46.9:0:0:22:129:19:NM_001005386.2(ACTR2) c.391-158C>T,NM_001005386.2(ACTR2) c.391-158C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 2 65478234 . G . . NT END=65480861;NT GT ./. 2 65480598 rs268872 A T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9409,T/0.05911;Gene=ACTR2/NM_001005386.2/1;CC=c.464-264A>T;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.449-264A>T;VC=Intron;DM=ACTR2/Actin;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:60:33.0:0:0:57:94:45:NM_001005386.2(ACTR2) c.464-264A>T,NM_001005386.2(ACTR2) c.464-264A>T:0.09,0.09:NOT_FOUND,NOT_FOUND 2 65480999 . G . . NT END=65482678;NT GT ./. 2 65481008 rs268871 A C 114 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.2131,C/0.7869,T/.;Gene=ACTR2/NM_001005386.2/1;CC=c.600+10A>C;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.585+10A>C;VC=Intron;DM=ACTR2/Actin;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:10:0:0:32:991:114.35:28.83:85.53:1.00:1.00:1.00:60:36.0:0:0:107:43:15:NM_001005386.2(ACTR2) c.600+10A>C,NM_001005386.2(ACTR2) c.600+10A>C:0.82,0.82:0.836383,0.836383 2 65482829 . G . . NT END=65488380;NT GT ./. 2 65488160 rs268861 A G 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1883,G/0.8117;Gene=ACTR2/NM_001005386.2/1;CC=c.751-221A>G;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.736-221A>G;VC=Intron;DM=ACTR2/Actin;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:251:30.18:30.18:0.00:1.00:1.00:0.00:60:49.5:0:0:45:106:24:NM_001005386.2(ACTR2) c.751-221A>G,NM_001005386.2(ACTR2) c.751-221A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 65488527 . G . . NT END=65492176;NT GT ./. 2 65488538 rs268862 G A 194 nt VT=SNV;PN=A;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.1867,A/0.8133;PC=0.575;Gene=ACTR2/NM_001005386.2/1;CC=c.896+12G>A;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.881+12G>A;VC=Intron;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:A:54:18:0:0:54:1688:194.38:44.72:149.66:1.00:1.00:1.00:60:35.4:0:0:106:40:20:NM_001005386.2(ACTR2) c.896+12G>A,NM_001005386.2(ACTR2) c.896+12G>A:0.85,0.85:0.8656,0.8656 2 65492310 . G . . NT END=65495697;NT GT ./. 2 65495570 rs55843720 A C 105 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.1883,C/0.8117;Gene=ACTR2/NM_001005386.2/1;CC=c.1030-128A>C;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.1015-128A>C;VC=Intron;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:28:0:0:28:919:105.22:105.22:0.00:1.00:1.00:0.00:60:70.4:28:0:56:94:33:NM_001005386.2(ACTR2) c.1030-128A>C,NM_001005386.2(ACTR2) c.1030-128A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 65495571 rs60931828 T C 98 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.1883,C/0.8117;Gene=ACTR2/NM_001005386.2/1;CC=c.1030-127T>C;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.1015-127T>C;VC=Intron;DM=ACTR2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:28:0:0:28:850:98.28:98.28:0.00:1.00:1.00:0.00:60:70.4:28:0:57:93:33:NM_001005386.2(ACTR2) c.1030-127T>C,NM_001005386.2(ACTR2) c.1030-127T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 65495573 rs72536103 A AC 95 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1887,AC/0.8113;DB;DBA=NA;PAF=A/0.1887,AC/0.8113;NP=1350;Gene=ACTR2/NM_001005386.2/1;CC=c.1030-124_1030-123insC;VC=Intron;Gene=ACTR2/NM_005722.3/0;CC=c.1015-124_1015-123insC;VC=Intron;DM=ACTR2/Actin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A,AC:28:28:27:0:1,27:24,837:0.00,94.71:0.00,94.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:118.0,68.7:1,0:0,0:66,58:85,93:0,34:NM_001005386.2(ACTR2) c.1030-125_1030-124insC,NM_001005386.2(ACTR2) c.1030-125_1030-124insC:0.84,0.84:NOT_FOUND,NOT_FOUND 2 65495869 . A . . NT END=65535452;NT GT ./. 2 65495887 rs268875 G A 275 nt VT=SNV;PN=C;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.1917,A/0.8083;PC=0.033;Gene=ACTR2/NM_001005386.2/1;CC=c.*19G>A;VC=3UTR;Gene=ACTR2/NM_005722.3/0;CC=c.*19G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:75:25:0:0:75:2393:274.85:60.04:214.82:1.00:1.00:1.00:60:40.8:0:0:100:44:23:NM_001005386.2(ACTR2) c.*19G>A,NM_001005386.2(ACTR2) c.*19G>A:0.82,0.82:0.880249,0.880249 2 65496075 rs8771 C T 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9407,T/0.05931;PC=0.981;Gene=ACTR2/NM_001005386.2/1;CC=c.*207C>T;VC=3UTR;Gene=ACTR2/NM_005722.3/0;CC=c.*207C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:388:44.52:0.00:44.52:1.00:0.00:1.00:60:49.4:0:0:89:61:35:NM_001005386.2(ACTR2) c.*207C>T,NM_001005386.2(ACTR2) c.*207C>T:0.09,0.09:NOT_FOUND,NOT_FOUND 2 65496144 rs190577 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1903,G/0.8097;PC=1.000;Gene=ACTR2/NM_001005386.2/1;CC=c.*276A>G;VC=3UTR;Gene=ACTR2/NM_005722.3/0;CC=c.*276A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:202:23.06:0.00:23.06:1.00:0.00:1.00:60:61.5:0:0:119:31:24:NM_001005386.2(ACTR2) c.*276A>G,NM_001005386.2(ACTR2) c.*276A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 65535522 . C . . NT END=65535539;NT GT ./. 2 65535708 . C . . NT END=65537984;NT GT ./. 2 65535731 rs34349961 A G 89 nt VT=SNV;PN=G;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.9469,G/0.05312;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:29:0:0:43,29:1368,961:0.00,88.87:0.00,20.79:0.00,68.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,45.5:0,0:0,0:98,96:40,46:33,18:-,chr2 g.65535730A>G (intergenic):-,0.09:-,NOT_FOUND 2 65537592 rs369395335 TACACAC T 9 sb;idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=9;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:TACACAC,T:6:8:0:7:3,3:102,191:0.00,8.67:0.00,1.35:0.00,7.32:0.00,0.64:0.00,0.94:0.00,0.42:60,60:9.0,25.0:0,3:0,0:58,65:36,79:41,27:-,chr2 g.65537593_65537598delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 65539087 rs14294 A G 254 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=177;DB;DBA=NA;PAF=A/0.9507,G/0.04932;PC=0.247;Gene=SPRED2/NM_001128210.1/1;CC=c.*1548T>C;VC=3UTR;Gene=SPRED2/NM_181784.2/0;CC=c.*1548T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:177:129:0:0:91,85,1:3033,2663,10:0.00,253.74,-0.18:0.00,141.02,-0.12:0.00,112.72,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.1,37.2,29.0:0,0,0:0,0,0:65,61,60:76,85,90:29,34,0:-,NM_181784.2(SPRED2) c.*1548T>C:-,0.08:-,NOT_FOUND 2 65539596 rs11548392 G A 129 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.9507,A/0.04932;Gene=SPRED2/NM_001128210.1/1;CC=c.*1039C>T;VC=3UTR;Gene=SPRED2/NM_181784.2/0;CC=c.*1039C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:96:48:0:0:45,51:1367,1705:129.24,0.00:59.34,0.00:69.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.6,4.6:0,0:0,0:93,74:54,70:24,39:NM_181784.2(SPRED2) c.*1039C>T,-:0.08,-:NOT_FOUND,- 2 65539641 rs11548393 C T 103 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.5689,T/0.4311;Gene=SPRED2/NM_001128210.1/1;CC=c.*994G>A;VC=3UTR;Gene=SPRED2/NM_181784.2/0;CC=c.*994G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:87:44:0:0:52,35:1711,1119:0.00,103.14:0.00,47.28:0.00,55.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,66.4:0,0:0,0:76,103:74,41:40,32:-,NM_181784.2(SPRED2) c.*994G>A:-,0.45:-,NOT_FOUND 2 65541304 . C . . NT END=65543867;NT GT ./. 2 65541595 rs9677459 G C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8035,C/0.1965;Gene=SPRED2/NM_001128210.1/1;CC=c.580-292C>G;VC=Intron;Gene=SPRED2/NM_181784.2/0;CC=c.589-292C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,G:6:0:0:0:5,1:155,33:16.71,0.00:0.00,0.00:16.71,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:40.2,0.0:0,0:0,0:114,117:37,34:29,0:NM_181784.2(SPRED2) c.589-292C>G,-:0.18,-:NOT_FOUND,- 2 65543589 rs6546144 G T 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01757,T/0.9824;Gene=SPRED2/NM_001128210.1/1;CC=c.579+279C>A;VC=Intron;Gene=SPRED2/NM_181784.2/0;CC=c.588+279C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:118:13.69:13.69:0.00:1.00:1.00:0.00:60:107.5:0:0:91:58:20:NM_181784.2(SPRED2) c.588+279C>A,NM_181784.2(SPRED2) c.588+279C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 65544018 . C . . NT END=65559120;NT GT ./. 2 65559027 rs2271198 A G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2871,G/0.7129;Gene=SPRED2/NM_001128210.1/1;CC=c.429+94T>C;VC=Intron;Gene=SPRED2/NM_181784.2/0;CC=c.438+94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:7:7:0:0:2,5:70,168:0.00,17.37:0.00,11.57:0.00,5.80:0.00,0.98:0.00,0.98:0.00,0.98:60,60:6.5,37.2:0,0:0,0:108,29:42,120:20,7:-,NM_181784.2(SPRED2) c.438+94T>C:-,0.69:-,NOT_FOUND 2 65559186 . C . . NT END=65561738;NT GT ./. 2 65561908 . C . . NT END=65571852;NT GT ./. 2 65572031 . C . . NT END=65593723;NT GT ./. 2 65593932 . C . . NT END=65659095;NT GT ./. 2 65659122 . T . . NT END=66662988;NT GT ./. 2 65893578 rs72110244 CCT C 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CCT/0.8998,C/0.1002;DB;DBA=NA;PAF=CCT/0.8998,C/0.1002;NP=383;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:CCT,C:6:5:0:3:3,3:105,98:0.00,9.42:0.00,4.31:0.00,5.11:0.00,0.73:0.00,0.96:0.00,0.89:60,60:3.3,0.0:0,0:0,0:128,53:22,98:14,44:-,chr2 g.65893579_65893580delCT (intergenic):-,0.1:-,NOT_FOUND 2 65893849 rs61743052 C T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9617,T/0.03834;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T:5:4:0:0:1,4:27,135:0.00,14.32:0.00,10.44:0.00,3.88:0.00,0.96:0.00,1.00:0.00,0.87:60,60:0.0,33.8:0,0:0,0:33,40:117,110:0,28:-,chr2 g.65893848C>T (intergenic):-,0.04:-,NOT_FOUND 2 65894369 rs2003201 T C 15 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3191,C/0.6809;PC=0.181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:130:14.91:1.99:12.92:1.00:1.00:1.00:60:32.5:0:0:93:57:36:chr2 g.65894368T>C (intergenic),chr2 g.65894368T>C (intergenic):0.7,0.7:NOT_FOUND,NOT_FOUND 2 66206900 . C CGTGTGTGTGTGTGT 10 nt VT=INS;SST=Single;DP=4;NP=1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,CGTGTGTGTGTGTGT:4:1:3:0:1,3:32,94:0.00,9.85:0.00,1.83:0.00,8.03:0.00,0.85:0.00,0.83:0.00,0.85:60,70:151.0,34.0:0,0:0,0:104,85:37,39:0,26:-,chr2 g.66206900_66206901insGTGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 66206901 rs61277259 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6581,G/0.3419;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:70:63.2:0:0:102:30:13:chr2 g.66206900A>G (intergenic),chr2 g.66206900A>G (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 2 66318696 rs575722885 G GATATAT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;NP=3;NP=6;PC=0.027;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G,GATATAT:4:4:2:0:1,1,2:7,34,66:0.45,0.00,6.65:0.45,0.00,6.65:0.00,0.00,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.00:60,60,60:122.0,0.0,6.5:0,0,0:0,0,0:71,89,75:79,61,53:0,0,19:-,chr2 g.66318696_66318697insATATAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 66364145 rs373320670 TTGTG T 15 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TTGTG/0.4136,T/0.2716;NP=2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:5:0:5:4:166:14.72:11.04:3.68:0.96:0.96:1.00:60:0.0:1:0:44:104:16:chr2 g.66364146_66364149delTGTG (intergenic),chr2 g.66364146_66364149delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 66411276 . TGTGC T 10 nt VT=DEL;SST=Single;DP=4;NP=13;PC=0.011;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TGTGC,T:4:3:0:4:1,3:35,98:0.00,10.25:0.00,5.13:0.00,5.13:0.00,0.85:0.00,0.99:0.00,0.99:60,70:0.0,3.3:0,0:0,0:25,72:125,78:0,30:-,chr2 g.66411277_66411280delGTGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 66462475 rs13403789 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7879,C/0.2121;NP=102 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:1:0:0:3,1:103,33:10.75,0.00:-0.30,0.00:11.05,0.00:0.85,0.00:0.83,0.00:0.85,0.00:70,60:67.0,0.0:0,0:0,0:102,30:49,108:4,0:chr2 g.66462474T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 66662875 . CTTT C 12 idl,rn VT=DEL;SST=Single;DP=15;PC=1.000;Gene=MEIS1/NM_002398.2/1;CC=c.-92_-90delTTT;VC=5UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:CTTT,I,C:13:13:1:9:8,1,4:265,26,184:0.00,1.67,11.53:0.00,-0.24,9.93:0.00,1.91,1.60:0.00,0.00,0.76:0.00,0.00,0.96:0.00,0.00,0.64:60,60,60:8.2,0.0,118.5:0,0,2:0,0,0:99,25,17:26,122,133:19,0,3:-,NM_002398.2(MEIS1) c.-113T[21]:-,NOT_FOUND:-,NOT_FOUND 2 66663001 . G . . NT END=66664027;NT GT ./. 2 66664004 rs5831809 G GT 81 idl,rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.5002,GT/0.4998,GTT/.;DB;DBA=NA;PAF=G/0.5002,GT/0.4998,GTT/.;NP=122;PC=0.551;Gene=MEIS1/NM_002398.2/1;CC=c.13-849dupT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:43:42:40:1:14,2,26,1:439,46,1235,24:0.00,2.58,80.85,1.05:0.00,-0.14,53.80,-0.07:0.00,2.72,27.05,1.12:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:30.3,76.5,51.0,153.0:0,2,14,0:0,0,0,0:109,70,62,89:35,72,83,29:24,16,34,0:-,NM_002398.2(MEIS1) c.13-865_13-864insT:-,NOT_FOUND:-,NOT_FOUND 2 66664076 . G . . NT END=66664868;NT GT ./. 2 66665096 . G . . NT END=66666441;NT GT ./. 2 66665146 rs2280334 T C 161 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4347,C/0.5653;PC=0.445;Gene=MEIS1/NM_002398.2/1;CC=c.239+51T>C;VC=Intron;DM=MEIS1/Meis_PKNOX_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:3:0:0:42:1407:160.72:7.88:152.84:1.00:1.00:1.00:60:37.5:0:0:108:42:17:NM_002398.2(MEIS1) c.239+51T>C,NM_002398.2(MEIS1) c.239+51T>C:0.53,0.53:0.626198,0.626198 2 66666197 rs149035640 TTTC T 13 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TTTC/0.4165,T/0.5835;NP=199;PC=0.001;Gene=MEIS1/NM_002398.2/1;CC=c.240-763_240-761delCTT;VC=Intron;DM=MEIS1/Meis_PKNOX_N;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:TTTC,T:9:9:0:4:5,4:160,134:0.00,12.62:0.00,10.86:0.00,1.76:0.00,0.85:0.00,0.85:0.00,0.63:60,60:63.8,52.0:0,0:0,0:39,96:111,54:22,5:-,NM_002398.2(MEIS1) c.240-777_240-775delTTC:-,0.5:-,NOT_FOUND 2 66666804 . G . . NT END=66666974;NT GT ./. 2 66667117 . G . . NT END=66667693;NT GT ./. 2 66667186 rs2271856 C T 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.4698,T/0.5302;PC=0.001;Gene=MEIS1/NM_002398.2/1;CC=c.381+70C>T;VC=Intron;Gene=MEIS1-AS2/NR_046625.1/0;VC=NonCoding;DM=MEIS1/Meis_PKNOX_N;DM=MEIS1/Meis_PKNOX_N;DM=MEIS1/Meis_PKNOX_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:19:0:0:21,26:547,750:0.00,73.51:0.00,19.56:0.00,53.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.9,45.8:2,0:0,0:91,98:60,39:36,28:-,NM_002398.2(MEIS1) c.381+70C>T:-,0.51:-,NOT_FOUND 2 66667200 rs9309387 A AACACACACACACAC 9 idl,nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=20;PC=0.001;Gene=MEIS1/NM_002398.2/1;CC=c.381+108_381+109insACACACACACACAC;VC=Intron;Gene=MEIS1-AS2/NR_046625.1/0;VC=NonCoding;DM=MEIS1/Meis_PKNOX_N;DM=MEIS1/Meis_PKNOX_N;DM=MEIS1/Meis_PKNOX_N;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,AACACACACACACAC,D:39:13:8:4:32,5,2:865,233,61:0.00,9.23,3.74:0.00,-1.00,1.85:0.00,10.23,1.90:0.00,0.76,0.00:0.00,0.73,0.00:0.00,0.97,0.00:60,60,60:38.8,62.8,31.0:0,3,0:0,0,0:112,84,70:25,67,79:27,12,28:-,NM_002398.2(MEIS1) c.381+84_381+85insACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 66667745 . G . . NT END=66668545;NT GT ./. 2 66668597 . G . . NT END=66670033;NT GT ./. 2 66670181 . G . . NT END=66691240;NT GT ./. 2 66670211 rs368068335 GA G 15 rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=43;Gene=MEIS1/NM_002398.2/1;CC=c.630+42delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,GA,I,G:54:23:2:6:2,44,2,6:30,1348,63,199:0.65,0.00,3.68,14.79:-0.25,0.00,-0.25,0.69:0.90,0.00,3.92,14.10:0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.98:60,60,60,60:37.5,16.4,0.0,5.8:0,0,0,0:0,0,0,0:22,103,75,77:128,46,75,73:3,24,44,39:-,NM_002398.2(MEIS1) c.630+32delA:-,NOT_FOUND:-,0.095967 2 66691353 . G . . NT END=66739280;NT GT ./. 2 66739427 . G . . NT END=66775074;NT GT ./. 2 66775152 . G . . NT END=66794584;NT GT ./. 2 66794644 . G . . NT END=66795798;NT GT ./. 2 66795889 . G . . NT END=66796181;NT GT ./. 2 66796278 . G . . NT END=66798377;NT GT ./. 2 66798282 rs2861108 G T 147 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.1603,T/0.8397;PC=0.263;Gene=MEIS1/NM_002398.2/1;CC=c.*38-96G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:T:42:42:0:0:42:1269:146.86:138.96:7.90:1.00:1.00:1.00:60:37.5:0:0:51:99:37:NM_002398.2(MEIS1) c.*38-96G>T,NM_002398.2(MEIS1) c.*38-96G>T:0.87,0.87:NOT_FOUND,NOT_FOUND 2 66798662 . C . . NT END=67624580;NT GT ./. 2 66955301 rs57177095 TTGTG T 9 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.013;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TTGTG,I,T:10:9:2:4:5,2,3:167,68,95:0.00,5.87,8.59:0.00,5.97,4.01:0.00,-0.10,4.58:0.00,0.00,0.62:0.00,0.00,0.94:0.00,0.00,0.76:60,60,60:16.0,11.0,23.0:0,0,0:0,0,0:111,78,21:40,69,130:31,5,10:-,chr2 g.66955302_66955305delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 66955470 rs2216121 A T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.76,T/0.24;PC=0.055 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T:5:0:0:0:2,3:65,97:0.00,9.67:0.00,0.00:0.00,9.67:0.00,0.78:0.00,0.00:0.00,0.78:60,60:4.5,32.3:0,0:0,0:47,129:104,21:40,2:-,chr2 g.66955469A>T (intergenic):-,0.26:-,NOT_FOUND 2 67106292 rs75948460 T G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=25;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:G,T:6:2:0:0:3,3:90,97:8.62,0.00:5.95,0.00:2.67,0.00:0.73,0.00:0.79,0.00:0.51,0.00:60,60:46.7,56.7:0,0:0,0:138,105:12,46:2,29:chr2 g.67106291T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 67353747 rs202037925 AGT A 9 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=57;PC=0.002;Gene=LOC102800447/NR_110564.1/0;VC=NonCoding;Gene=LOC644838/NR_038844.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AGT,A:4:5:0:6:1,3:33,194:0.00,9.28:0.00,5.82:0.00,3.46:0.00,0.69:0.00,0.93:0.00,0.89:60,60:0.0,29.7:0,3:0,0:132,25:19,125:0,11:-,NR_038844.1(LOC644838) n.449-227_449-226delAC:-,NOT_FOUND:-,NOT_FOUND 2 67545173 rs55781217 C CTGTG 10 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=22;NP=41;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTGTG:3:1:5:0:3:158:9.86:3.45:6.41:0.78:0.73:0.97:60:11.3:2:0:84:67:19:chr2 g.67545173_67545174insTGTG (intergenic),chr2 g.67545173_67545174insTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 67624302 rs13016812 A G 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2851,G/0.7149 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:7:7:0:0:3,4:92,120:0.00,11.83:0.00,11.83:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:2.7,36.8:0,0:0,0:37,20:114,131:3,10:-,NM_019002.3(ETAA1) c.-139-u140A>G:-,0.71:-,NOT_FOUND 2 67624804 . G . . NT END=67626300;NT GT ./. 2 67626430 . G . . NT END=67626681;NT GT ./. 2 67626759 . G . . NT END=67629987;NT GT ./. 2 67630107 . G . . NT END=67630356;NT GT ./. 2 67630980 rs3770657 G A 109 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.2672,A/0.7328;PC=1.000;Gene=ETAA1/NM_019002.3/1;CC=c.1166G>A;ProtCh=p.S389N;VC=Missense;DM=ETAA1/ETAA1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:43:0:0:36,34:1129,1109:108.99,0.00:43.57,0.00:65.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,4.3:0,0:0,0:77,76:74,72:29,23:NM_019002.3(ETAA1) c.1166G>A (p.Ser389Asn),-:0.72,-:0.761538,- 2 67631831 rs61740794 G A 153 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.5443,A/0.4557;PC=0.001;Gene=ETAA1/NM_019002.3/1;CC=c.2017G>A;ProtCh=p.E673K;VC=Missense;DM=ETAA1/ETAA1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:49:0:0:48,38:1553,1174:152.58,0.00:57.58,0.00:95.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,18.3:0,0:0,0:89,79:52,71:36,45:NM_019002.3(ETAA1) c.2017G>A (p.Glu673Lys),-:0.46,-:0.412796,- 2 67632125 rs3770655 C T 121 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.2542,G/.,T/0.7458;Gene=ETAA1/NM_019002.3/1;CC=c.2311C>T;ProtCh=p.P771S;VC=Missense;DM=ETAA1/ETAA1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:32:0:0:31,37:999,1239:0.00,121.20:0.00,42.31:0.00,78.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,39.3:0,0:0,0:91,73:58,68:27,39:-,NM_019002.3(ETAA1) c.2311C>T (p.Pro771Ser):-,0.73:-,0.775958 2 67632468 . G . . NT END=67637042;NT GT ./. 2 67637171 . T . . NT END=68270020;NT GT ./. 2 67637196 rs1569 G A 105 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.01398,A/0.986,C/.;Gene=ETAA1/NM_019002.3/1;CC=c.*26G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:12:0:0:29:909:104.72:31.80:72.92:1.00:1.00:1.00:60:40.6:0:0:120:30:24:NM_019002.3(ETAA1) c.*26G>A,NM_019002.3(ETAA1) c.*26G>A:0.98,0.98:0.96378,0.96378 2 68235571 rs56084892 GCACACA G 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=25;PC=0.009;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:GCACACA,I,G:5:5:1:2:2,1,2:70,34,68:0.00,2.98,6.51:0.00,3.08,3.26:0.00,-0.10,3.26:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.87:60,60,60:0.0,0.0,18.5:1,0,0:0,0,0:50,34,91:54,117,59:6,0,6:-,chr2 g.68235572_68235577delCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 68251309 rs4442982 T G 58 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4071,G/0.5929;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:17:0:0:17:499:57.91:57.91:0.00:1.00:1.00:0.00:60:61.4:0:0:54:95:26:chr2 g.68251308T>G (intergenic),chr2 g.68251308T>G (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 2 68251347 rs6546352 A G 123 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.255,G/0.745;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:33:0:0:33:1070:122.67:116.61:6.07:1.00:1.00:1.00:60:51.8:0:0:37:114:28:chr2 g.68251346A>G (intergenic),chr2 g.68251346A>G (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 2 68251510 rs397766019 G GC 214 nt VT=INS;SST=Single;DP=62;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3303;PC=0.969;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:G,GC:62:30:60:0:2,60:57,1891:0.00,213.87:0.00,71.57:0.00,142.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,5.1:0,0:0,0:148,101:3,46:1,24:chr2 g.68251510_68251511insC (intergenic),chr2 g.68251510_68251511insC (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 68251762 rs7576627 T C 17 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2534,C/0.7466;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:145:16.88:1.44:15.44:1.00:1.00:1.00:60:54.0:0:0:100:51:5:chr2 g.68251761T>C (intergenic),chr2 g.68251761T>C (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 2 68270186 . C . . NT END=68273119;NT GT ./. 2 68273176 . C . . NT END=68273475;NT GT ./. 2 68273543 . C . . NT END=68274304;NT GT ./. 2 68274443 . T . . NT END=68358369;NT GT ./. 2 68274510 rs548360476 C CA 9 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=2;Gene=C1D/NM_001190263.1/0;CC=c.-9-60dupT;VC=Intron;Gene=C1D/NM_001190265.1/1;CC=c.-9-60dupT;VC=Intron;Gene=C1D/NM_006333.3/0;CC=c.-9-60dupT;VC=Intron;Gene=C1D/NM_173177.2/0;CC=c.-9-60dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T,CA,D:31:9:4:2:24,1,4,2:715,8,116,66:0.00,-0.17,8.52,4.48:0.00,-0.07,-0.30,1.20:0.00,-0.10,8.82,3.28:0.00,0.00,0.64,0.00:0.00,0.00,0.65,0.00:0.00,0.00,0.94,0.00:60,60,60,60:10.8,151.0,15.0,0.0:0,0,0,0:0,0,0,0:115,131,127,106:35,4,23,44:21,0,4,1:-,NM_001190265.1(C1D) c.-9-60_-9-59insT:-,NOT_FOUND:-,NOT_FOUND 2 68352515 rs6742154 A C 117 nt VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=A/0.5603,C/0.4397;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:93:68:0:0:53,40:1637,1257:0.00,117.17:0.00,67.19:0.00,49.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,35.5:0,0:0,0:74,66:75,77:24,15:-,chr2 g.68352514A>C (intergenic):-,0.42:-,0.380712 2 68358341 rs62145930 T C 121 nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.4864,C/0.5136;Gene=WDR92/NM_138458.3/1;CC=c.*29A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:65:0:0:39,34:1240,1063:120.61,0.00:95.13,0.00:25.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,6.4:0,0:0,0:40,50:103,96:27,36:NM_138458.3(WDR92) c.*29A>G,-:0.48,-:0.424343,- 2 68358578 . C . . NT END=68361215;NT GT ./. 2 68358653 rs17035004 T C 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.4864,C/0.5136;Gene=WDR92/NM_138458.3/1;CC=c.867-76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:9:0:0:21,32:562,1063:50.58,0.00:5.87,0.00:44.72,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:44.7,3.8:0,0:0,0:102,112:46,38:24,24:NM_138458.3(WDR92) c.867-76A>G,-:0.48,-:NOT_FOUND,- 2 68361932 . C . . NT END=68364430;NT GT ./. 2 68364478 rs13009282 T C 101 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.8227,A/.,C/0.1773;PC=1.000;Gene=WDR92/NM_138458.3/1;CC=c.721A>G;ProtCh=p.M241V;VC=Missense;Gene=WDR92/NR_046234.1/0;VC=NonCoding;Gene=WDR92/NM_001256476.1/0;CC=c.721A>G;ProtCh=p.M241V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:52:0:0:35,40:1067,1332:100.87,0.00:61.05,0.00:39.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,14.4:0,0:0,0:67,66:84,74:33,34:NM_138458.3(WDR92) c.721A>G (p.Met241Val),-:0.17,-:0.224358,- 2 68364566 . C . . NT END=68365873;NT GT ./. 2 68365990 . C . . NT END=68368825;NT GT ./. 2 68368928 . C . . NT END=68371716;NT GT ./. 2 68371848 . C . . NT END=68374598;NT GT ./. 2 68374700 . C . . NT END=68384392;NT GT ./. 2 68384576 . G . . NT END=68385066;NT GT ./. 2 68385097 rs2044693 A G 455 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=A/0.2316,G/0.7684;PC=0.023;Gene=PNO1/NM_020143.2/1;CC=c.31A>G;ProtCh=p.R11G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:135:114:0:0:1,133,1:13,3934,12:0.14,455.17,0.12:0.14,295.71,0.12:0.00,159.46,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:107.0,36.2,43.0:0,0,0:0,0,0:0,58,12:151,86,136:0,31,0:NM_020143.2(PNO1) c.31A>G (p.Arg11Gly),NM_020143.2(PNO1) c.31A>G (p.Arg11Gly):0.72,0.72:0.740612,0.740612 2 68385274 . G . . NT END=68385511;NT GT ./. 2 68385662 . G . . NT END=68388814;NT GT ./. 2 68388899 . G . . NT END=68389396;NT GT ./. 2 68389276 rs530812214 G GA 32 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1385;Gene=PNO1/NM_020143.2/1;CC=c.442-111_442-110insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:G,GA,D:15:15:10:1:4,10,1:123,308,32:0.00,31.90,2.38:0.00,31.90,2.38:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:29.8,3.5,0.0:0,0,0:0,0,0:56,62,22:90,88,129:27,36,0:-,NM_020143.2(PNO1) c.442-121_442-120insA:-,NOT_FOUND:-,NOT_FOUND 2 68389458 . G . . NT END=68389677;NT GT ./. 2 68389796 . G . . NT END=68400478;NT GT ./. 2 68389919 rs7606087 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8231,T/0.1769;Gene=PNO1/NM_020143.2/1;CC=c.620+124C>T;VC=Intron;DM=PNO1/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:7:0:0:0:3,4:97,113:0.00,11.11:0.00,0.00:0.00,11.11:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,38.8:0,0:0,0:119,113:32,34:9,2:-,NM_020143.2(PNO1) c.620+124C>T:-,0.17:-,NOT_FOUND 2 68400550 . G . . NT END=68401866;NT GT ./. 2 68401935 . T . . NT END=68408094;NT GT ./. 2 68402012 rs1060842 G T 71 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.2282,T/0.7718;Gene=PNO1/NM_020143.2/1;CC=c.*78G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:1:0:0:19:624:71.46:1.94:69.52:1.00:1.00:1.00:60:35.1:0:0:96:55:29:NM_020143.2(PNO1) c.*78G>T,NM_020143.2(PNO1) c.*78G>T:0.73,0.73:NOT_FOUND,NOT_FOUND 2 68408143 . C . . NT END=68413599;NT GT ./. 2 68413437 rs397744521 G GTTAA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2294,GTTAA/0.7706;DB;DBA=NA;PAF=G/0.2294,GTTAA/0.7706;NP=740;PC=0.018;Gene=PPP3R1/NM_000945.3/1;CC=c.465+159_465+162dupTTAA;VC=Intron;DM=PPP3R1/EF-hand_1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GTTAA:4:4:4:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:70:0.0:0:0:22:128:13:NM_000945.3(PPP3R1) c.465+162_465+163insTTAA,NM_000945.3(PPP3R1) c.465+162_465+163insTTAA:0.72,0.72:NOT_FOUND,NOT_FOUND 2 68413785 . C . . NT END=68414386;NT GT ./. 2 68414447 . C . . NT END=68415645;NT GT ./. 2 68415563 rs397702943 CT C 16 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CT/0.6194,C/0.3806;DB;DBA=NA;PAF=CT/0.6194,C/0.3806;NP=200;Gene=PPP3R1/NM_000945.3/1;CC=c.220+82delA;VC=Intron;DM=PPP3R1/EF-hand_7;DM=PPP3R1/EF-hand_7;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:CT,I,C:19:23:1:10:12,1,6:398,33,290:0.00,2.18,16.29:0.00,2.18,16.29:0.00,0.00,0.00:0.00,0.00,0.92:0.00,0.00,0.92:0.00,0.00,0.00:60,60,60:25.2,21.0,52.2:0,0,4:0,0,0:93,87,33:56,64,108:32,0,26:-,NM_000945.3(PPP3R1) c.220+82delA:-,NOT_FOUND:-,NOT_FOUND 2 68415767 rs687 G A 117 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.4844,A/0.5156;PC=1.000;Gene=PPP3R1/NM_000945.3/1;CC=c.99C>T;ProtCh=p.D33=;VC=Silent;DM=PPP3R1/EF-hand_7;DM=PPP3R1/EF-hand_7;DM=PPP3R1/EF-hand_5;DM=PPP3R1/EF-hand_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:63:0:0:38,43:1235,1463:117.31,0.00:65.24,0.00:52.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,2.0:0,0:0,0:79,67:66,72:22,25:NM_000945.3(PPP3R1) c.99C>T (p.(=)),-:0.49,-:0.421582,- 2 68415823 . C . . NT END=68444223;NT GT ./. 2 68444143 rs66891931 TAC T 15 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=280;Gene=PPP3R1/NM_000945.3/1;CC=c.43+79_43+80delGT;VC=Intron;DM=PPP3R1/EF-hand_7;DM=PPP3R1/EF-hand_5;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:TAC,T:17:18:0:6:12,5:345,197:0.00,14.51:0.00,11.50:0.00,3.01:0.00,0.87:0.00,0.87:0.00,0.79:60,60:31.4,76.4:0,1:0,0:79,65:70,85:34,15:-,NM_000945.3(PPP3R1) c.43+79_43+80delGT:-,NOT_FOUND:-,NOT_FOUND 2 68444168 rs373501884 A G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.5385,G/0.4615;DB;DBA=NA;PAF=NA;NP=4;NP=885;Gene=PPP3R1/NM_000945.3/1;CC=c.43+56T>C;VC=Intron;DM=PPP3R1/EF-hand_7;DM=PPP3R1/EF-hand_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,I:20:18:1:0:11,8,1:304,209,33:0.00,19.04,2.23:0.00,12.83,1.05:0.00,6.21,1.18:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.97,0.00:70,60,60:20.1,75.5,64.0:10,0,0:0,0,0:56,74,106:94,75,44:47,11,0:-,NM_000945.3(PPP3R1) c.43+56T>C:-,NOT_FOUND:-,NOT_FOUND 2 68444171 rs374427852 C G,CGCAG 30 idl,nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5495,CACGCAG/.,CGCAG/0.4505;NP=1;NP=1004;NP=26;DM=PPP3R1/EF-hand_7;DM=PPP3R1/EF-hand_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:C,G,CGCAG:19:16:10:0:1,8,10:21,252,282:0.00,25.75,29.85:0.00,18.62,23.07:0.00,7.14,6.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,70:59.0,74.4,17.0:0,0,0:0,0,0:105,81,58:46,69,91:0,15,40:NM_000945.3(PPP3R1) c.43+53G>C,NM_000945.3(PPP3R1) c.43+52_43+53insCTGC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 68444264 . C . . NT END=68479256;NT GT ./. 2 68479576 rs4519508 G A 124 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.5375,A/0.4625;PC=0.870;Gene=PPP3R1/NM_000945.3/1;CC=c.-317C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:74:50:0:0:41,1,32:1263,7,1035:124.05,-0.13,0.00:53.81,-0.10,0.00:70.23,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:52.7,139.0,21.8:0,0,0:0,0,0:73,24,86:77,127,59:35,0,34:NM_000945.3(PPP3R1) c.-317C>T,-:0.43,-:NOT_FOUND,- 2 68479652 . A . . NT END=68483187;NT GT ./. 2 68479671 rs4347819 A G 162 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.2284,G/0.7716;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A,G:45:16:0:0:1,44:12,1427:0.00,161.87:0.00,34.30:0.00,127.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.0,67.1:0,0:0,0:136,117:12,30:0,18:NM_000945.3(PPP3R1) c.-392-u20T>C,NM_000945.3(PPP3R1) c.-392-u20T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 68479723 rs184336391 G A 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.985 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,G:13:2:0:0:9,4:288,132:29.61,0.00:4.37,0.00:25.23,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:79.4,30.0:0,0:0,0:130,66:8,77:11,46:NM_000945.3(PPP3R1) c.-392-u72C>T,-:0.45,-:NOT_FOUND,- 2 68480768 rs6719833 T A,TGTGAGA 10 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.511,A/0.489 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:68:A,TGTGAGA:5:4:3:0:2,3:70,93:7.16,10.06:5.32,3.40:1.84,6.66:0.00,0.78:0.00,0.97:0.00,0.97:60,70:35.0,7.0:1,0:0,0:49,48:100,94:38,8:NM_000945.3(PPP3R1) c.-392-u1117A>T,NM_000945.3(PPP3R1) c.-392-u1118_-392-u1117insTCTCAC:0.48,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 68483248 . A . . NT END=68511559;NT GT ./. 2 68483396 rs7593613 A T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.51,T/0.49;PC=0.979 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,T:11:0:0:0:4,7:133,222:0.00,22.41:0.00,0.00:0.00,22.41:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.2,31.7:0,0:0,0:90,116:60,33:27,32:-,NM_000945.3(PPP3R1) c.-392-u3745T>A:-,0.46:-,NOT_FOUND 2 68511506 rs5831925 GA G 27 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=223;Gene=CNRIP1/NM_001111101.1/1;CC=c.*53delT;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:25:24:1:10:14,1,10:441,28,295:0.00,1.64,27.19:0.00,0.74,23.22:0.00,0.90,3.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:6.1,45.0,26.0:0,0,0:0,0,0:38,11,72:102,140,75:23,0,27:-,NM_001111101.1(CNRIP1) c.*42T[11]:-,NOT_FOUND:-,NOT_FOUND 2 68511584 rs735815 A G 52 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.6058,G/0.3942;PC=0.023;Gene=CNRIP1/NM_001111101.1/1;CC=c.363T>C;ProtCh=p.S121=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:30:0:0:21,17:698,556:0.00,52.37:0.00,27.12:0.00,25.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,57.5:0,0:0,0:67,51:73,95:36,21:-,NM_001111101.1(CNRIP1) c.363T>C (p.(=)):-,0.41:-,0.358081 2 68511617 . C . . NT END=68520141;NT GT ./. 2 68521159 . C . . NT END=68544288;NT GT ./. 2 68544440 . C . . NT END=68546353;NT GT ./. 2 68546304 rs4671897 T C 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.4878,C/0.5122;Gene=CNRIP1/NM_001111101.1/1;CC=c.179+50A>G;VC=Intron;Gene=CNRIP1/NM_015463.2/0;CC=c.179+50A>G;VC=Intron;DM=CNRIP1/CNRIP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:73:68:0:0:34,1,38:1059,5,1276:100.49,-0.20,0.00:87.12,-0.15,0.00:13.37,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:61.3,86.0,8.7:0,0,0:0,0,0:55,107,58:92,44,92:26,0,23:NM_015463.2(CNRIP1) c.179+50A>G,-:0.46,-:0.615124,- 2 68546374 rs4671898 T C 164 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.5871,C/0.4129;PC=1.000;Gene=CNRIP1/NM_001111101.1/1;CC=c.159A>G;ProtCh=p.K53=;VC=Silent;Gene=CNRIP1/NM_015463.2/0;CC=c.159A>G;ProtCh=p.K53=;VC=Silent;DM=CNRIP1/CNRIP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:116:98:0:0:51,65:1738,1950:163.59,0.00:106.64,0.00:56.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.6,5.5:0,0:0,0:65,58:82,90:37,39:NM_015463.2(CNRIP1) c.159A>G (p.(=)),-:0.38,-:0.458225,- 2 68546449 rs13025842 G A 219 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=G/0.7915,A/0.2085;PC=1.000;Gene=CNRIP1/NM_001111101.1/1;CC=c.84C>T;ProtCh=p.D28=;VC=Silent;Gene=CNRIP1/NM_015463.2/0;CC=c.84C>T;ProtCh=p.D28=;VC=Silent;DM=CNRIP1/CNRIP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:156:116:0:0:73,83:2311,2619:219.04,0.00:108.23,0.00:110.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.1,7.5:0,0:0,0:63,60:78,87:35,34:NM_015463.2(CNRIP1) c.84C>T (p.(=)),-:0.21,-:0.261072,- 2 68546533 . G . . NT END=68592483;NT GT ./. 2 68592526 . G . . NT END=68607459;NT GT ./. 2 68592584 rs880668 T C 70 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1346,C/0.8654;Gene=PLEK/NM_002664.2/1;CC=c.42+59T>C;VC=Intron;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:10:0:0:22,18:719,561:70.46,0.00:13.85,0.00:56.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,20.5:0,0:0,0:99,108:48,42:26,38:NM_002664.2(PLEK) c.42+59T>C,-:0.84,-:0.79435,- 2 68607616 . G . . NT END=68607854;NT GT ./. 2 68608037 . G . . NT END=68609673;NT GT ./. 2 68609766 . G . . NT END=68613633;NT GT ./. 2 68613710 rs2070171 G A 104 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.7877,A/0.2123;PC=0.001;Gene=PLEK/NM_002664.2/1;CC=c.549G>A;ProtCh=p.S183=;VC=Silent;DM=PLEK/DEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:55:0:0:33,43:1107,1377:103.89,0.00:67.49,0.00:36.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,11.8:0,0:0,0:77,65:73,80:30,36:NM_002664.2(PLEK) c.549G>A (p.(=)),-:0.23,-:0.274181,- 2 68613819 . G . . NT END=68615518;NT GT ./. 2 68615395 rs2241947 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8115,T/0.1885;Gene=PLEK/NM_002664.2/1;CC=c.658-124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,C,T:17:17:0:0:1,12,4:13,394,131:0.32,0.00,11.10:0.32,0.00,11.10:0.00,0.00,0.00:0.00,0.00,0.74:0.00,0.00,0.74:0.00,0.00,0.00:60,60,60:147.0,18.4,32.8:0,0,0:0,0,0:141,37,28:6,113,121:0,16,10:-,NM_002664.2(PLEK) c.658-124C>T:-,0.21:-,NOT_FOUND 2 68615624 . G . . NT END=68620293;NT GT ./. 2 68615654 rs2241946 T C 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.8129,C/0.1871;PC=0.111;Gene=PLEK/NM_002664.2/1;CC=c.762+31T>C;VC=Intron;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:11:0:0:10,20:342,652:30.68,0.00:9.36,0.00:21.32,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:41.2,5.7:0,0:0,0:110,102:33,49:17,29:NM_002664.2(PLEK) c.762+31T>C,-:0.21,-:0.215593,- 2 68620006 rs71395967 AAC A 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AAC/0.8123,A/0.1877;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=AAC/0.8123,A/0.1877;NP=97;Gene=PLEK/NM_002664.2/1;CC=c.763-284_763-283delCA;VC=Intron;DM=PLEK/PH;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:4:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:33.8:0:0:90:58:2:NM_002664.2(PLEK) c.763-287_763-286delAC,NM_002664.2(PLEK) c.763-287_763-286delAC:0.21,0.21:NOT_FOUND,NOT_FOUND 2 68620089 rs10496165 C T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7678,T/0.2322;Gene=PLEK/NM_002664.2/1;CC=c.763-205C>T;VC=Intron;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:6:6:0:0:2,4:68,112:0.00,11.44:0.00,11.44:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,37.2:0,0:0,0:29,20:121,129:1,12:-,NM_002664.2(PLEK) c.763-205C>T:-,0.26:-,NOT_FOUND 2 68620378 . G . . NT END=68621238;NT GT ./. 2 68620410 rs17602092 T A 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.8123,A/0.1877;Gene=PLEK/NM_002664.2/1;CC=c.846+33T>A;VC=Intron;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:36:14:0:0:12,24:348,790:30.55,0.00:7.01,0.00:23.54,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:44.8,3.1:0,0:0,0:81,98:57,41:32,21:NM_002664.2(PLEK) c.846+33T>A,-:0.21,-:0.248039,- 2 68621309 . G . . NT END=68622811;NT GT ./. 2 68621338 rs17530191 G T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.776,T/0.224;Gene=PLEK/NM_002664.2/1;CC=c.916+30G>T;VC=Intron;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:16:0:0:17,10:501,288:0.00,25.83:0.00,7.79:0.00,18.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,45.3:0,0:0,0:88,101:53,48:26,41:-,NM_002664.2(PLEK) c.916+30G>T:-,0.24:-,0.28779 2 68621427 rs34196827 G A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8121,A/0.1879;PC=0.003;Gene=PLEK/NM_002664.2/1;CC=c.916+119G>A;VC=Intron;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:1:0:0:7,10:227,319:21.03,0.00:-0.12,0.00:21.15,0.00:0.98,0.00:0.61,0.00:0.98,0.00:60,60:58.1,6.4:0,0:0,0:67,34:84,116:52,20:NM_002664.2(PLEK) c.916+119G>A,-:0.21,-:NOT_FOUND,- 2 68622658 rs1373200 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6344,T/0.3656;PC=0.003;Gene=PLEK/NM_002664.2/1;CC=c.917-154C>T;VC=Intron;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:16:16:0:0:9,7:291,191:0.00,17.64:0.00,17.64:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:21.6,45.7:0,0:0,0:58,66:91,85:51,9:-,NM_002664.2(PLEK) c.917-154C>T:-,0.38:-,NOT_FOUND 2 68622914 rs1063479 G A 105 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.1426,A/0.8574;PC=1.000;Gene=PLEK/NM_002664.2/1;CC=c.1019G>A;ProtCh=p.R340K;VC=Missense;DM=PLEK/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:47:0:0:35,46:1120,1511:104.66,0.00:45.74,0.00:58.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.5,6.9:0,0:0,0:86,87:62,62:33,29:NM_002664.2(PLEK) c.1019G>A (p.Arg340Lys),-:0.83,-:0.792327,- 2 68622949 . A . . NT END=68691340;NT GT ./. 2 68622952 rs1050181 G C 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.6324,C/0.3676;Gene=PLEK/NM_002664.2/1;CC=c.*4G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:67:36:0:0:28,39:890,1283:82.54,0.00:33.28,0.00:49.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.5,6.9:0,0:0,0:89,96:60,49:25,28:NM_002664.2(PLEK) c.*4G>C,-:0.38,-:0.474243,- 2 68691503 . C . . NT END=68691971;NT GT ./. 2 68692311 . C . . NT END=68694863;NT GT ./. 2 68694960 . G . . NT END=68717321;NT GT ./. 2 68695092 . C T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;PC=0.014;Gene=APLF/NM_173545.2/1;CC=c.96+133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:10,8:297,269:0.00,25.35:0.00,0.00:0.00,25.35:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.9,42.4:0,0:0,0:97,79:48,70:31,18:-,NM_173545.2(APLF) c.96+133C>T:-,NOT_FOUND:-,NOT_FOUND 2 68717394 . G . . NT END=68729862;NT GT ./. 2 68730036 . G . . NT END=68740211;NT GT ./. 2 68740360 . G . . NT END=68740679;NT GT ./. 2 68740813 . G . . NT END=68742737;NT GT ./. 2 68742869 . G . . NT END=68753192;NT GT ./. 2 68753375 . G . . NT END=68765003;NT GT ./. 2 68765360 . G . . NT END=68772318;NT GT ./. 2 68772281 rs397740387 AT A 56 rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=AT/0.8566,A/0.1434;DB;DBA=NA;PAF=AT/0.8566,A/0.1434;NP=887;PC=0.003;Gene=APLF/NM_173545.2/1;CC=c.1161-28delT;VC=Intron;DM=APLF/zf-CCHH;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:42:38:1:19:22,1,19:682,30,596:0.00,1.63,56.38:0.00,1.71,40.98:0.00,-0.07,15.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.3,11.0,17.0:0,0,0:0,0,0:44,4,46:105,147,103:30,0,33:-,NM_173545.2(APLF) c.1161-37delT:-,NOT_FOUND:-,NOT_FOUND 2 68772445 . G . . NT END=68790226;NT GT ./. 2 68790486 . T . . NT END=68794472;NT GT ./. 2 68794520 . G . . NT END=68795367;NT GT ./. 2 68795483 . G . . NT END=68804951;NT GT ./. 2 68806585 . g . . NT END=68807077;NT GT ./. 2 68807295 . C . . NT END=68813903;NT GT ./. 2 68813917 . G . . NT END=68839230;NT GT ./. 2 68839322 . T . . NT END=68872953;NT GT ./. 2 68873439 . G . . NT END=68882011;NT GT ./. 2 68881938 rs57056816 C CA 14 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=3;PC=0.362;Gene=PROKR1/NM_138964.2/1;CC=c.486-57_486-56insA;VC=Intron;DM=PROKR1/7tm_1;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,CA,D:18:21:8:3:12,5,1:368,254,98:0.00,13.60,2.08:0.00,13.70,2.10:0.00,-0.10,-0.02:0.00,0.84,0.00:0.00,0.98,0.00:0.00,0.49,0.00:60,60,60:10.5,28.8,46.0:0,3,2:0,0,0:72,40,30:78,105,121:34,18,0:-,NM_138964.2(PROKR1) c.486-74_486-73insA:-,NOT_FOUND:-,NOT_FOUND 2 68882709 . C . . NT END=68962331;NT GT ./. 2 68962393 . G . . NT END=69001932;NT GT ./. 2 69002553 . G . . NT END=69009364;NT GT ./. 2 69002760 rs10445945 C T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6829,T/0.3171;Gene=ARHGAP25/NM_001007231.2/1;CC=c.261+208C>T;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.261+208C>T;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.240+208C>T;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.240+208C>T;VC=Intron;DM=ARHGAP25/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T:15:0:0:0:10,5:274,136:0.00,11.84:0.00,0.00:0.00,11.84:0.00,0.89:0.00,0.00:0.00,0.89:60,60:13.1,40.8:0,0:0,0:114,76:35,74:21,24:-,NM_001007231.2(ARHGAP25) c.261+208C>T:-,0.31:-,NOT_FOUND 2 69009453 . G . . NT END=69014971;NT GT ./. 2 69015089 . G . . NT END=69034404;NT GT ./. 2 69034157 rs12992898 T C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.471,C/0.529;Gene=ARHGAP25/NM_001007231.2/1;CC=c.467-248T>C;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.350-251T>C;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.446-248T>C;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.446-251T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:5:5:0:0:4,1:138,33:14.62,0.00:14.62,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:34.5,0.0:0,0:0,0:52,79:99,71:12,0:NM_001007231.2(ARHGAP25) c.467-248T>C,-:0.49,-:NOT_FOUND,- 2 69034613 . G . . NT END=69040418;NT GT ./. 2 69034847 rs3749128 C T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.725,T/0.275;Gene=ARHGAP25/NM_001007231.2/1;CC=c.674+235C>T;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.554+235C>T;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.653+235C>T;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.650+235C>T;VC=Intron;DM=ARHGAP25/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,T:9:0:0:0:3,6:74,194:0.00,19.81:0.00,0.00:0.00,19.81:0.00,0.99:0.00,0.00:0.00,0.99:60,60:12.0,32.3:0,0:0,0:96,106:47,44:5,7:-,NM_001007231.2(ARHGAP25) c.674+235C>T:-,0.33:-,NOT_FOUND 2 69040552 . G . . NT END=69043420;NT GT ./. 2 69043264 rs67399232 CT C 12 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1178;Gene=ARHGAP25/NM_001007231.2/1;CC=c.808-146delT;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.688-146delT;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.787-146delT;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.784-146delT;VC=Intron;DM=ARHGAP25/RhoGAP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:CT,C:10:11:0:6:5,5:138,157:0.00,11.95:0.00,11.95:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,70:14.6,48.2:0,1:0,0:10,33:141,118:10,23:-,NM_001007231.2(ARHGAP25) c.808-156delT:-,NOT_FOUND:-,NOT_FOUND 2 69043266 rs78107572 T A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4175,A/0.5825;NP=1218;Gene=ARHGAP25/NM_001007231.2/1;CC=c.808-155T>A;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.688-155T>A;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.787-155T>A;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.784-155T>A;VC=Intron;DM=ARHGAP25/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,T:10:10:0:1:5,5:143,157:13.65,0.00:13.65,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:70,60:48.2,14.6:0,0:0,0:34,12:117,139:22,10:NM_001007231.2(ARHGAP25) c.808-155T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 69043495 . G . . NT END=69045004;NT GT ./. 2 69043539 rs2271832 G C 118 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.4163,C/0.5837;PC=0.010;Gene=ARHGAP25/NM_001007231.2/1;CC=c.881+45G>C;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.761+45G>C;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.860+45G>C;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.857+45G>C;VC=Intron;DM=ARHGAP25/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:11:0:0:31:1032:117.95:25.55:92.40:1.00:1.00:1.00:60:46.7:0:0:109:41:21:NM_001007231.2(ARHGAP25) c.881+45G>C,NM_001007231.2(ARHGAP25) c.881+45G>C:0.62,0.62:0.646394,0.646394 2 69043681 rs939060 A C 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.03874,C/0.9613;Gene=ARHGAP25/NM_001007231.2/1;CC=c.881+187A>C;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.761+187A>C;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.860+187A>C;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.857+187A>C;VC=Intron;DM=ARHGAP25/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:108:12.67:0.00:12.67:1.00:0.00:1.00:60:50.8:0:0:90:61:39:NM_001007231.2(ARHGAP25) c.881+187A>C,NM_001007231.2(ARHGAP25) c.881+187A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 69045127 . G . . NT END=69046254;NT GT ./. 2 69045158 rs10197806 C A 75 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.7139,A/0.2861;Gene=ARHGAP25/NM_001007231.2/1;CC=c.1003+32C>A;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.883+32C>A;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.982+32C>A;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.979+32C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:46:24:0:0:25,21:765,677:74.60,0.00:26.81,0.00:47.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,4.3:0,0:0,0:120,94:30,46:19,38:NM_001007231.2(ARHGAP25) c.1003+32C>A,-:0.33,-:0.297939,- 2 69045256 rs13418133 C A 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7139,A/0.2861;Gene=ARHGAP25/NM_001007231.2/1;CC=c.1003+130C>A;VC=Intron;Gene=ARHGAP25/NM_001166277.1/0;CC=c.883+130C>A;VC=Intron;Gene=ARHGAP25/NM_001166276.1/0;CC=c.982+130C>A;VC=Intron;Gene=ARHGAP25/NM_014882.2/0;CC=c.979+130C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:6:0:0:9,13:257,412:23.51,0.00:5.71,0.00:17.80,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:47.4,11.6:0,0:0,0:78,98:73,53:59,42:NM_001007231.2(ARHGAP25) c.1003+130C>A,-:0.33,-:NOT_FOUND,- 2 69046452 . G . . NT END=69049471;NT GT ./. 2 69049941 rs10177248 T C 107 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.6799,C/0.3201;PC=0.003;Gene=ARHGAP25/NM_001007231.2/1;CC=c.1670T>C;ProtCh=p.M557T;VC=Missense;Gene=ARHGAP25/NM_001166277.1/0;CC=c.1550T>C;ProtCh=p.M517T;VC=Missense;Gene=ARHGAP25/NM_001166276.1/0;CC=c.1649T>C;ProtCh=p.M550T;VC=Missense;Gene=ARHGAP25/NM_014882.2/0;CC=c.1646T>C;ProtCh=p.M549T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:97:51:0:0:1,40,1,55:11,1164,12,1725:-0.11,107.22,-0.08,0.00:-0.10,34.84,0.05,0.00:-0.01,72.39,-0.14,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:211.0,39.0,117.0,15.1:0,0,0,0:0,0,0,0:67,71,138,57:82,80,13,93:0,36,0,28:NM_001007231.2(ARHGAP25) c.1670T>C (p.Met557Thr),-:0.37,-:0.332282,- 2 69050005 . G . . NT END=69053118;NT GT ./. 2 69053327 . G . . NT END=69092762;NT GT ./. 2 69093704 . C . . NT END=69098156;NT GT ./. 2 69098078 rs2231340 A G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.996,G/0.003994;NP=100;Gene=BMP10/NM_014482.1/1;CC=c.334+79T>C;VC=Intron;DM=BMP10/TGFb_propeptide GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:13,8:403,207:0.00,18.44:0.00,17.92:0.00,0.52:0.00,0.99:0.00,0.99:0.00,0.68:60,60:14.3,41.2:0,0:0,0:30,98:121,53:27,19:-,NM_014482.1(BMP10) c.334+79T>C:-,0.01:-,NOT_FOUND 2 69098491 . G . . NT END=69172499;NT GT ./. 2 69172583 . C . . NT END=69173435;NT GT ./. 2 69173593 . C . . NT END=69174278;NT GT ./. 2 69174390 . C . . NT END=69177257;NT GT ./. 2 69177396 . C . . NT END=69177833;NT GT ./. 2 69177888 . C . . NT END=69179981;NT GT ./. 2 69179994 . T . . NT END=69201767;NT GT ./. 2 69180161 rs7561266 T A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3846,A/0.6154;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:178:20.66:0.00:20.66:1.00:0.00:1.00:60:51.3:0:0:115:35:24:NM_182536.2(GKN2) c.-109-u59A>T,NM_182536.2(GKN2) c.-109-u59A>T:0.67,0.67:NOT_FOUND,NOT_FOUND 2 69201501 rs4575760 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1855,A/0.8145,T/.;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:4:0:0:3,1:70,31:7.42,0.00:7.42,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:58.7,0.0:0,0:0,0:21,10:130,141:3,0:NM_019617.3(GKN1) c.-63-u204G>A,-:0.8,-:NOT_FOUND,- 2 69201822 . G . . NT END=69204626;NT GT ./. 2 69201894 rs4417751 C T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3395,T/0.6605;PC=0.002;Gene=GKN1/NM_019617.3/1;CC=c.54+73C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:3:0:0:7,7:229,231:0.00,22.23:0.00,3.27:0.00,18.95:0.00,0.99:0.00,0.89:0.00,1.00:60,60:11.1,35.6:0,0:0,0:75,120:76,31:17,17:-,NM_019617.3(GKN1) c.54+73C>T:-,0.69:-,0.629654 2 69201982 rs4430980 T C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3253,C/0.6747;PC=0.012;Gene=GKN1/NM_019617.3/1;CC=c.54+161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:6:0:0:0:3,3:108,57:10.45,0.00:0.00,0.00:10.45,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:36.0,29.3:0,0:0,0:33,136:118,14:7,10:NM_019617.3(GKN1) c.54+161T>C,-:0.7,-:NOT_FOUND,- 2 69204681 . G . . NT END=69204768;NT GT ./. 2 69204907 . G . . NT END=69206002;NT GT ./. 2 69206114 . G . . NT END=69207044;NT GT ./. 2 69206848 rs72839530 C G 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9553,G/0.04473;Gene=GKN1/NM_019617.3/1;CC=c.358-197C>G;VC=Intron;DM=GKN1/BRICHOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,G:7:7:0:0:4,3:143,96:0.00,8.95:0.00,8.95:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,32.0:0,0:0,0:63,9:87,142:28,8:-,NM_019617.3(GKN1) c.358-197C>G:-,0.07:-,NOT_FOUND 2 69207193 . G . . NT END=69207860;NT GT ./. 2 69207956 . A . . NT END=69240631;NT GT ./. 2 69240784 . G . . NT END=69267175;NT GT ./. 2 69267248 . G . . NT END=69271873;NT GT ./. 2 69271946 . G . . NT END=69297778;NT GT ./. 2 69297622 rs4591376 C T 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.05232,T/0.9477;Gene=ANTXR1/NM_018153.3/0;CC=c.297-157C>T;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.297-157C>T;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.297-157C>T;VC=Intron;DM=ANTXR1/VWA;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G,T:15:15:0:0:1,14:29,462:2.21,52.45:2.21,52.45:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:29.0,37.8:0,0:0,0:70,75:79,73:0,53:NM_032208.2(ANTXR1) c.297-157C>T,NM_032208.2(ANTXR1) c.297-157C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 69297861 . G . . NT END=69298885;NT GT ./. 2 69298013 rs4306745 C T 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=ANTXR1/NM_018153.3/0;CC=c.378+153C>T;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.378+153C>T;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.378+153C>T;VC=Intron;DM=ANTXR1/VWA;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:355:41.16:0.00:41.16:1.00:0.00:1.00:60:80.4:0:0:54:96:29:NM_032208.2(ANTXR1) c.378+153C>T,NM_032208.2(ANTXR1) c.378+153C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 69298014 rs4355153 C A 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.05252,A/0.9475;Gene=ANTXR1/NM_018153.3/0;CC=c.378+154C>A;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.378+154C>A;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.378+154C>A;VC=Intron;DM=ANTXR1/VWA;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A,C:12:0:0:0:11,1:356,13:39.43,0.00:0.00,0.00:39.43,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:79.5,91.0:0,0:0,0:46,84:105,66:20,0:NM_032208.2(ANTXR1) c.378+154C>A,NM_032208.2(ANTXR1) c.378+154C>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 69298817 rs13030844 T C 128 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6488,C/0.3512;PC=0.010;Gene=ANTXR1/NM_018153.3/0;CC=c.379-69T>C;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.379-69T>C;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.379-69T>C;VC=Intron;DM=ANTXR1/VWA;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:30:0:0:34:1115:127.65:86.44:41.21:1.00:1.00:1.00:60:39.6:0:0:39:105:23:NM_032208.2(ANTXR1) c.379-69T>C,NM_032208.2(ANTXR1) c.379-69T>C:0.37,0.37:0.438239,0.438239 2 69298920 . G . . NT END=69300153;NT GT ./. 2 69300234 . G . . NT END=69302721;NT GT ./. 2 69302791 . G . . NT END=69304539;NT GT ./. 2 69303037 rs12479009 G C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6406,C/0.3594;PC=0.001;Gene=ANTXR1/NM_018153.3/0;CC=c.561+247G>C;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.561+247G>C;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.561+247G>C;VC=Intron;DM=ANTXR1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:163:18.68:0.00:18.68:1.00:0.00:1.00:60:32.6:0:0:105:46:28:NM_032208.2(ANTXR1) c.561+247G>C,NM_032208.2(ANTXR1) c.561+247G>C:0.38,0.38:NOT_FOUND,NOT_FOUND 2 69304621 . G . . NT END=69317990;NT GT ./. 2 69304631 . C T 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=63;Gene=ANTXR1/NM_018153.3/0;CC=c.642+11C>T;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.642+11C>T;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.642+11C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:34:0:0:39,24:1318,752:0.00,68.47:0.00,14.42:0.00,54.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,43.2:0,0:0,0:99,98:51,43:24,27:-,NM_032208.2(ANTXR1) c.642+11C>T:-,NOT_FOUND:-,NOT_FOUND 2 69317925 rs4854546 G A 113 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.05711,A/0.9429;PC=0.041;Gene=ANTXR1/NM_018153.3/0;CC=c.643-66G>A;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.643-66G>A;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.643-66G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A:30:28:0:0:30:985:112.81:80.65:32.15:1.00:1.00:1.00:60:36.3:0:0:51:98:26:NM_032208.2(ANTXR1) c.643-66G>A,NM_032208.2(ANTXR1) c.643-66G>A:0.94,0.94:0.916338,0.916338 2 69318052 . G . . NT END=69329973;NT GT ./. 2 69318129 rs4241348 T G 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.04772,G/0.9523;Gene=ANTXR1/NM_018153.3/0;CC=c.703+78T>G;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.703+78T>G;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.703+78T>G;VC=Intron;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:5:0:0:15:483:55.41:9.29:46.12:1.00:1.00:1.00:60:37.3:0:0:108:42:10:NM_032208.2(ANTXR1) c.703+78T>G,NM_032208.2(ANTXR1) c.703+78T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 69318250 . TAA T 9 rn VT=DEL;SST=Single;DP=5;PC=0.103;Gene=ANTXR1/NM_018153.3/0;CC=c.703+216_703+217delAA;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.703+216_703+217delAA;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.703+216_703+217delAA;VC=Intron;DM=ANTXR1/Anth_Ig;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:TAA,I,T:5:0:1:3:1,1,3:33,29,90:0.00,2.58,9.37:0.00,0.00,0.00:0.00,2.58,9.37:0.00,0.00,0.78:0.00,0.00,0.00:0.00,0.00,0.78:60,60,60:101.0,79.0,59.7:0,0,0:0,0,0:115,67,117:36,84,34:0,0,6:-,NM_032208.2(ANTXR1) c.703+200_703+201delAA:-,NOT_FOUND:-,NOT_FOUND 2 69329772 rs4542888 A G 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5911,G/0.4089;Gene=ANTXR1/NM_018153.3/0;CC=c.704-202A>G;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.704-202A>G;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.704-202A>G;VC=Intron;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:9:9:0:0:5,4:137,129:0.00,12.13:0.00,12.13:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:76.0,69.8:0,0:0,0:45,28:105,122:40,14:-,NM_032208.2(ANTXR1) c.704-202A>G:-,0.42:-,NOT_FOUND 2 69329782 rs6546482 T C 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1779,C/0.8221;Gene=ANTXR1/NM_018153.3/0;CC=c.704-192T>C;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.704-192T>C;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.704-192T>C;VC=Intron;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C,T:9:9:0:0:8,1:267,8:29.33,0.00:29.33,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:59.6,182.0:0,0:0,0:52,49:99,95:28,0:NM_032208.2(ANTXR1) c.704-192T>C,NM_032208.2(ANTXR1) c.704-192T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 69330073 . G . . NT END=69350148;NT GT ./. 2 69330118 rs6710260 A G 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.6386,G/0.3614;PC=0.001;Gene=ANTXR1/NM_018153.3/0;CC=c.802+46A>G;VC=Intron;Gene=ANTXR1/NM_053034.2/0;CC=c.802+46A>G;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.802+46A>G;VC=Intron;DM=ANTXR1/Anth_Ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:15:0:0:24,23:810,724:0.00,69.21:0.00,18.76:0.00,50.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,34.4:0,0:0,0:100,114:51,37:33,20:-,NM_032208.2(ANTXR1) c.802+46A>G:-,0.35:-,0.338382 2 69350219 . G . . NT END=69351696;NT GT ./. 2 69351776 . G . . NT END=69372457;NT GT ./. 2 69373498 . C . . NT END=69379300;NT GT ./. 2 69379397 . G . . NT END=69397379;NT GT ./. 2 69379614 rs34590960 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4113,A/0.5887;PC=0.001;Gene=ANTXR1/NM_053034.2/0;CC=c.1047+218G>A;VC=Intron;Gene=ANTXR1/NM_032208.2/1;CC=c.1047+218G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:6:0:0:0:4,2:134,68:13.65,0.00:0.00,0.00:13.65,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:33.5,0.0:0,0:0,0:108,117:42,34:30,3:NM_032208.2(ANTXR1) c.1047+218G>A,-:0.55,-:NOT_FOUND,- 2 69397422 . G . . NT END=69399498;NT GT ./. 2 69399691 . C . . NT END=69408917;NT GT ./. 2 69409014 . G . . NT END=69409624;NT GT ./. 2 69409029 rs6749826 C A 101 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.4115,A/0.5885;Gene=ANTXR1/NM_032208.2/1;CC=c.1185+16C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:45:21:0:0:32,13:972,439:100.60,0.00:27.20,0.00:73.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,2.8:0,0:0,0:98,98:46,52:27,28:NM_032208.2(ANTXR1) c.1185+16C>A,-:0.54,-:0.451638,- 2 69409222 rs6752908 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4107,T/0.5893;Gene=ANTXR1/NM_032208.2/1;CC=c.1185+209C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,T:7:1:0:0:2,5:65,169:0.00,17.47:0.00,3.43:0.00,14.04:0.00,0.98:0.00,0.81:0.00,1.00:60,60:0.0,53.8:0,0:0,0:45,102:105,49:0,29:-,NM_032208.2(ANTXR1) c.1185+209C>T:-,0.54:-,NOT_FOUND 2 69409265 rs6724204 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4101,G/0.5899;Gene=ANTXR1/NM_032208.2/1;CC=c.1185+252A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:7:2:0:0:2,5:68,155:0.00,16.06:0.00,6.96:0.00,9.10:0.00,0.98:0.00,0.93:0.00,1.00:60,60:0.0,53.2:0,0:0,0:88,46:62,104:0,36:-,NM_032208.2(ANTXR1) c.1185+252A>G:-,0.54:-,NOT_FOUND 2 69409793 . G . . NT END=69420466;NT GT ./. 2 69420548 . G . . NT END=69472356;NT GT ./. 2 69420591 rs62134900 T TCTCA 21 idl,nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6601,A/0.3399;NP=1;NP=1;NP=1;NP=1;NP=1;NP=1;NP=12;NP=133;NP=2;NP=2;NP=23;NP=48;NP=9;PC=0.002;Gene=ANTXR1/NM_032208.2/1;CC=c.1434+45_1434+46insTCAC;VC=Intron;DM=ANTXR1/Ant_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TCTCA:29:14:12:1:21,8:631,374:0.00,21.47:0.00,3.81:0.00,17.66:0.00,0.98:0.00,0.95:0.00,1.00:60,70:17.6,58.6:0,4:0,0:108,119:42,31:23,27:-,NM_032208.2(ANTXR1) c.1434+44_1434+45insCTCA:-,NOT_FOUND:-,NOT_FOUND 2 69420596 rs7584057 T C 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2879,C/0.7121;Gene=ANTXR1/NM_032208.2/1;CC=c.1434+49T>C;VC=Intron;DM=ANTXR1/Ant_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,D:31:12:0:1:12,18,1:391,491,34:36.08,0.00,2.13:4.33,0.00,-0.08:31.75,0.00,2.21:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:70,60,60:53.8,7.9,21.0:0,0,0:0,0,0:83,112,58:67,38,93:49,18,0:NM_032208.2(ANTXR1) c.1434+49T>C,-:0.61,-:0.43034,- 2 69446516 rs377200577 G GACACAC 6 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=22;Gene=ANTXR1/NM_032208.2/1;CC=c.1435-25803_1435-25802insACACAC;VC=Intron;DM=ANTXR1/Ant_C;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GACACAC:2:4:5:0:2:164:6.46:0.00:6.46:0.46:0.87:0.80:60:45.5:3:0:55:96:9:NM_032208.2(ANTXR1) c.1435-25841_1435-25840insACACAC,NM_032208.2(ANTXR1) c.1435-25841_1435-25840insACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 69472668 . A . . NT END=69553320;NT GT ./. 2 69553366 . C . . NT END=69554045;NT GT ./. 2 69553375 rs201330278 GA G 58 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=290;PC=0.500;Gene=GFPT1/NM_001244710.1/1;CC=c.2056-11delT;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.2002-11delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:45:32:3:23:1,22,3,19:30,737,91,710:1.60,0.00,6.30,57.60:-0.11,0.00,2.35,25.92:1.71,0.00,3.95,31.69:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:54.0,19.2,44.0,16.4:0,0,0,3:0,0,0,0:11,84,95,69:140,44,56,70:0,29,25,19:-,NM_001244710.1(GFPT1) c.2056-11delT:-,NOT_FOUND:-,NOT_FOUND 2 69554208 . C . . NT END=69555402;NT GT ./. 2 69555226 . CA C 9 idl,rn VT=DEL;SST=Single;DP=10;NP=8;PC=0.007;Gene=GFPT1/NM_001244710.1/1;CC=c.1893+176delT;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.1839+176delT;VC=Intron;DM=GFPT1/SIS;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:CA,I,C:9:10:2:4:4,2,3:136,59,127:0.00,5.07,8.64:0.00,5.07,8.64:0.00,0.00,0.00:0.00,0.00,0.62:0.00,0.00,0.62:0.00,0.00,0.00:60,60,60:5.8,5.0,33.7:0,0,1:0,0,0:112,21,14:38,129,137:21,13,8:-,NM_001244710.1(GFPT1) c.1893+176delT:-,NOT_FOUND:-,NOT_FOUND 2 69555571 . C . . NT END=69556428;NT GT ./. 2 69556557 . C . . NT END=69556815;NT GT ./. 2 69556931 . C . . NT END=69565029;NT GT ./. 2 69565188 . C . . NT END=69565576;NT GT ./. 2 69565345 rs10164798 T C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6865,C/0.3135;PC=0.008;Gene=GFPT1/NM_001244710.1/1;CC=c.1325-158A>G;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.1271-158A>G;VC=Intron;DM=GFPT1/SIS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:7:0:0:11,7:353,218:35.32,0.00:13.42,0.00:21.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,7.1:0,0:0,0:82,54:68,96:34,16:NM_001244710.1(GFPT1) c.1325-158A>G,-:0.3,-:NOT_FOUND,- 2 69565698 . C . . NT END=69569283;NT GT ./. 2 69565842 rs11296709 TA T 25 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=TA/0.8718,T/0.1282;NP=529;Gene=GFPT1/NM_001244710.1/1;CC=c.1204-146delT;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.1150-146delT;VC=Intron;DM=GFPT1/SIS;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:28:1:0:11:18,10:497,312:0.00,25.16:0.00,-0.18:0.00,25.35:0.00,1.00:0.00,0.56:0.00,1.00:60,60:20.2,21.4:0,1:0,0:127,80:22,71:20,30:-,NM_001244710.1(GFPT1) c.1204-146delT:-,NOT_FOUND:-,NOT_FOUND 2 69565844 rs116730412 A T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5313,T/0.4687;NP=527;Gene=GFPT1/NM_001244710.1/1;CC=c.1204-147T>A;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.1150-147T>A;VC=Intron;DM=GFPT1/SIS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:28:0:0:1:19,9:574,221:0.00,18.72:0.00,0.00:0.00,18.72:0.00,0.99:0.00,0.00:0.00,0.99:60,60:25.9,23.8:0,0:0,0:113,70:37,70:35,12:-,NM_001244710.1(GFPT1) c.1204-147T>A:-,NOT_FOUND:-,NOT_FOUND 2 69569382 . C . . NT END=69573035;NT GT ./. 2 69573029 rs6722492 T C 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=in-clinvar;PAF=T/0.3528,A/.,C/0.6472;PC=0.058;Gene=GFPT1/NM_001244710.1/1;CC=c.1105+7A>G;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.1051+7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:26:0:0:15,13:526,420:51.36,0.00:43.23,0.00:8.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,4.4:0,0:0,0:53,38:97,95:41,30:NM_001244710.1(GFPT1) c.1105+7A>G,-:0.61,-:0.675408,- 2 69573132 . C . . NT END=69575302;NT GT ./. 2 69573273 rs4546050 T C 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3496,C/0.6504;Gene=GFPT1/NM_001244710.1/1;CC=c.1010-142A>G;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.956-142A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,C,T:14:0:0:0:1,9,4:8,305,108:0.19,31.30,0.00:0.00,0.00,0.00:0.19,31.30,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:17.0,35.6,22.8:0,0,0:0,0,0:76,116,106:73,35,35:0,15,11:NM_001244710.1(GFPT1) c.1010-142A>G,-:0.61,-:NOT_FOUND,- 2 69575467 . C . . NT END=69577209;NT GT ./. 2 69577316 . C . . NT END=69581390;NT GT ./. 2 69581445 . C . . NT END=69581620;NT GT ./. 2 69581701 . C . . NT END=69583627;NT GT ./. 2 69583422 rs7579871 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3528,A/0.6472;Gene=GFPT1/NM_001244710.1/1;CC=c.605+206C>T;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.605+206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,G:9:9:0:0:4,5:114,117:10.66,0.00:10.66,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:42.8,22.6:0,0:0,0:32,58:118,92:5,5:NM_001244710.1(GFPT1) c.605+206C>T,-:0.61,-:NOT_FOUND,- 2 69583690 . C . . NT END=69585460;NT GT ./. 2 69583873 rs67434964 AT A 14 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AT/0.3938,A/0.6062;NP=49;PC=0.520;Gene=GFPT1/NM_001244710.1/1;CC=c.544-185delA;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.544-185delA;VC=Intron;DM=GFPT1/GATase_6;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AT,I,A:8:1:1:5:2,1,5:59,33,135:0.00,2.76,13.99:0.00,1.44,0.00:0.00,1.32,13.99:0.00,0.00,0.97:0.00,0.00,0.75:0.00,0.00,0.97:60,60,60:0.0,0.0,104.2:0,0,0:0,0,0:144,93,119:6,58,32:2,0,5:-,NM_001244710.1(GFPT1) c.544-185delA:-,NOT_FOUND:-,NOT_FOUND 2 69583896 rs13389936 A G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.504,G/0.496;PC=0.010;Gene=GFPT1/NM_001244710.1/1;CC=c.544-207T>C;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.544-207T>C;VC=Intron;DM=GFPT1/GATase_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G,T:7:1:0:0:3,3,1:100,89,10:0.00,8.50,0.47:0.00,-0.12,-0.03:0.00,8.62,0.51:0.00,0.69,0.00:0.00,0.62,0.00:0.00,0.69,0.00:60,60,60:0.0,109.7,225.0:0,0,0:0,0,0:141,47,65:10,103,85:5,34,0:-,NM_001244710.1(GFPT1) c.544-207T>C:-,0.47:-,NOT_FOUND 2 69585596 . C . . NT END=69586399;NT GT ./. 2 69585609 . G GA 7 rn VT=INS;SST=Single;DP=37;PC=0.137;Gene=GFPT1/NM_001244710.1/1;CC=c.409-15dupT;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.409-15dupT;VC=Intron;DM=GFPT1/GATase_6;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:G,GA:37:14:3:0:34,3:1099,99:0.00,6.81:0.00,1.04:0.00,5.77:0.00,0.38:0.00,0.60:0.00,0.83:60,60:12.3,3.7:0,0:0,0:94,49:57,102:36,28:-,NM_001244710.1(GFPT1) c.409-15_409-14insT:-,NOT_FOUND:-,NOT_FOUND 2 69586293 rs6546505 A C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.353,C/0.647;Gene=GFPT1/NM_001244710.1/1;CC=c.408+107T>G;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.408+107T>G;VC=Intron;DM=GFPT1/GATase_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,C,G:12:12:0:0:7,4,1:228,127,10:0.00,11.47,0.24:0.00,11.47,0.24:0.00,0.00,0.00:0.00,0.80,0.00:0.00,0.80,0.00:0.00,0.00,0.00:60,60,60:13.7,65.0,52.0:0,0,0:0,0,0:27,61,56:124,90,95:22,16,0:-,NM_001244710.1(GFPT1) c.408+107T>G:-,0.61:-,NOT_FOUND 2 69586370 rs67760762 A G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.756,G/0.244,T/.;Gene=GFPT1/NM_001244710.1/1;CC=c.408+30T>C;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.408+30T>C;VC=Intron;DM=GFPT1/GATase_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:15:12:0:0:9,6:260,171:0.00,15.59:0.00,11.83:0.00,3.75:0.00,0.96:0.00,0.99:0.00,0.94:60,60:10.7,45.2:0,0:0,0:78,100:73,50:26,37:-,NM_001244710.1(GFPT1) c.408+30T>C:-,0.26:-,0.309857 2 69586459 . C . . NT END=69590676;NT GT ./. 2 69590803 . C . . NT END=69597132;NT GT ./. 2 69591164 rs6546507 C T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.006989,T/0.993;PC=0.001;Gene=GFPT1/NM_001244710.1/1;CC=c.224-362G>A;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.224-362G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:109:12.76:0.00:12.76:1.00:0.00:1.00:60:46.0:0:0:116:34:16:NM_001244710.1(GFPT1) c.224-362G>A,NM_001244710.1(GFPT1) c.224-362G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 69597209 rs2230300 A G 71 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=in-clinvar;PAF=A/0.9926,G/0.007388;PC=0.555;Gene=GFPT1/NM_001244710.1/1;CC=c.147T>C;ProtCh=p.D49=;VC=Silent;Gene=GFPT1/NM_002056.3/0;CC=c.147T>C;ProtCh=p.D49=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:39:0:0:33,23:1079,766:0.00,71.11:0.00,28.61:0.00,42.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,38.3:0,0:0,0:69,82:67,67:29,28:-,NM_001244710.1(GFPT1) c.147T>C (p.(=)):-,0.01:-,0.018991 2 69597241 . C . . NT END=69601137;NT GT ./. 2 69600994 rs150148475 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9982,C/0.001797;NP=16;PC=0.069;Gene=GFPT1/NM_001244710.1/1;CC=c.115+144A>G;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.115+144A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:6:6:0:0:3,3:103,92:9.93,0.00:9.93,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:47.0,7.3:0,0:0,0:80,52:70,99:14,11:NM_001244710.1(GFPT1) c.115+144A>G,-:0.0032,-:NOT_FOUND,- 2 69601246 . C . . NT END=69614196;NT GT ./. 2 69613958 rs6738707 A G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3361,G/0.6639;Gene=GFPT1/NM_001244710.1/1;CC=c.7+239T>C;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.7+239T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:8:8:0:0:5,3:159,90:0.00,8.13:0.00,8.13:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:17.2,68.7:0,0:0,0:7,53:144,98:7,35:-,NM_001244710.1(GFPT1) c.7+239T>C:-,0.62:-,NOT_FOUND 2 69614161 rs6720415 A G 72 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.3435,G/0.6565;PC=0.031;Gene=GFPT1/NM_001244710.1/1;CC=c.7+36T>C;VC=Intron;Gene=GFPT1/NM_002056.3/0;CC=c.7+36T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:44:0:0:33,24:993,779:0.00,72.48:0.00,35.25:0.00,37.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,45.6:0,0:0,0:48,37:103,111:28,22:-,NM_001244710.1(GFPT1) c.7+36T>C:-,0.62:-,0.691974 2 69614204 . G . . NT END=69623377;NT GT ./. 2 69623136 rs10170036 A G 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3496,G/0.6504;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:8:8:0:0:3,5:98,176:0.00,17.69:0.00,17.69:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,35.2:0,0:0,0:33,50:118,100:13,22:-,chr2 g.69623135A>G (intergenic):-,0.61:-,NOT_FOUND 2 69623423 . C . . NT END=69627495;NT GT ./. 2 69627671 . C . . NT END=69633153;NT GT ./. 2 69633215 . C . . NT END=69642316;NT GT ./. 2 69633382 rs6546513 A T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3353,T/0.6647;PC=0.001;Gene=NFU1/NM_001002755.2/1;CC=c.485-168T>A;VC=Intron;Gene=NFU1/NM_001002756.2/0;CC=c.62-168T>A;VC=Intron;Gene=NFU1/NM_015700.3/0;CC=c.413-168T>A;VC=Intron;Gene=NFU1/NR_045631.1/0;VC=NonCoding;Gene=NFU1/NR_045632.1/0;VC=NonCoding;DM=NFU1/Nfu_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:112:13.07:0.00:13.07:1.00:0.00:1.00:60:45.0:0:0:111:39:17:NM_001002755.2(NFU1) c.485-168T>A,NM_001002755.2(NFU1) c.485-168T>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 69642432 . C . . NT END=69646669;NT GT ./. 2 69646737 . C . . NT END=69650713;NT GT ./. 2 69646950 rs4404323 C T 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6813,T/0.3187;Gene=NFU1/NM_001002755.2/1;CC=c.303-214G>A;VC=Intron;Gene=NFU1/NM_001002756.2/0;CC=c.-121-214G>A;VC=Intron;Gene=NFU1/NM_015700.3/0;CC=c.231-214G>A;VC=Intron;Gene=NFU1/NR_045631.1/0;VC=NonCoding;Gene=NFU1/NR_045632.1/0;VC=NonCoding;DM=NFU1/Nfu_N;DM=NFU1/NifU;DM=NFU1/NifU;DM=NFU1/NifU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:0:0:0:2,2:72,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,33.0:0,0:0,0:85,96:64,53:23,26:-,NM_001002755.2(NFU1) c.303-214G>A:-,0.31:-,NOT_FOUND 2 69650445 rs67662551 T A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8872,A/0.1128;PC=0.120;Gene=NFU1/NM_001002755.2/1;CC=c.302+269A>T;VC=Intron;Gene=NFU1/NM_001002756.2/0;CC=c.-121-3709A>T;VC=Intron;Gene=NFU1/NM_015700.3/0;CC=c.230+269A>T;VC=Intron;Gene=NFU1/NR_045631.1/0;VC=NonCoding;Gene=NFU1/NR_045632.1/0;VC=NonCoding;DM=NFU1/Nfu_N;DM=NFU1/NifU;DM=NFU1/NifU;DM=NFU1/NifU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,T:6:6:0:0:4,2:119,55:12.15,0.00:12.15,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:32.8,62.5:0,0:0,0:47,30:96,120:25,25:NM_001002755.2(NFU1) c.302+269A>T,-:0.11,-:NOT_FOUND,- 2 69650527 rs11892371 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5946,T/0.4054;PC=0.008;Gene=NFU1/NM_001002755.2/1;CC=c.302+187G>A;VC=Intron;Gene=NFU1/NM_001002756.2/0;CC=c.-121-3791G>A;VC=Intron;Gene=NFU1/NM_015700.3/0;CC=c.230+187G>A;VC=Intron;Gene=NFU1/NR_045631.1/0;VC=NonCoding;Gene=NFU1/NR_045632.1/0;VC=NonCoding;DM=NFU1/Nfu_N;DM=NFU1/NifU;DM=NFU1/NifU;DM=NFU1/NifU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:C,T:12:11:0:0:6,6:193,178:0.00,17.05:0.00,14.87:0.00,2.17:0.00,0.98:0.00,1.00:0.00,0.67:60,60:33.5,60.5:0,0:0,0:70,54:80,79:40,36:-,NM_001002755.2(NFU1) c.302+187G>A:-,0.39:-,NOT_FOUND 2 69650554 rs141049329 A AT 27 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6012,AT/0.3988;NP=429;PC=0.138;Gene=NFU1/NM_001002755.2/1;CC=c.302+159dupA;VC=Intron;Gene=NFU1/NM_001002756.2/0;CC=c.-121-3819dupA;VC=Intron;Gene=NFU1/NM_015700.3/0;CC=c.230+159dupA;VC=Intron;Gene=NFU1/NR_045631.1/0;VC=NonCoding;Gene=NFU1/NR_045632.1/0;VC=NonCoding;DM=NFU1/Nfu_N;DM=NFU1/NifU;DM=NFU1/NifU;DM=NFU1/NifU;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,AT:15:14:9:0:6,9:170,267:0.00,26.67:0.00,24.22:0.00,2.45:0.00,1.00:0.00,1.00:0.00,0.73:60,60:29.5,60.9:0,0:0,0:52,41:99,103:41,33:-,NM_001002755.2(NFU1) c.302+159_302+160insA:-,0.39:-,NOT_FOUND 2 69650850 . C . . NT END=69659033;NT GT ./. 2 69659126 rs4453725 A T 41 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6829,T/0.3171;PC=0.001;Gene=NFU1/NM_001002755.2/1;CC=c.74T>A;ProtCh=p.M25K;VC=Missense;Gene=NFU1/NM_001002756.2/0;CC=c.-214T>A;VC=5UTR;Gene=NFU1/NM_015700.3/0;CC=c.2T>A;ProtCh=p.M1?;VC=Missense;Gene=NFU1/NR_045631.1/0;VC=NonCoding;Gene=NFU1/NR_045632.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:33:20:0:0:20,13:679,440:0.00,40.59:0.00,16.13:0.00,24.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,35.4:0,0:0,0:97,68:48,58:35,24:-,NM_001002755.2(NFU1) c.74T>A (p.Met25Lys):-,0.31:-,0.377211 2 69659138 . C . . NT END=69664402;NT GT ./. 2 69664555 . C . . NT END=69692556;NT GT ./. 2 69693006 rs9309428 C T 523 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=C/0.6895,T/0.3105;PC=0.055;Gene=AAK1/NM_014911.3/1;CC=c.*9995G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:144:94:0:0:2,1,141:22,5,4569:0.34,0.02,522.59:0.00,0.02,273.22:0.34,0.00,249.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:48.5,81.0,40.2:0,0,0:0,0,0:7,56,76:143,95,74:3,0,41:NM_014911.3(AAK1) c.*9995G>A,NM_014911.3(AAK1) c.*9995G>A:0.31,0.31:0.398817,0.398817 2 69699356 . a . . NT END=69699703;NT GT ./. 2 69700228 . a . . NT END=69700442;NT GT ./. 2 69703096 . C . . NT END=69704011;NT GT ./. 2 69704123 . C . . NT END=69706082;NT GT ./. 2 69706194 . C . . NT END=69707991;NT GT ./. 2 69708094 . C . . NT END=69709842;NT GT ./. 2 69709945 . C . . NT END=69723116;NT GT ./. 2 69723213 . C . . NT END=69732700;NT GT ./. 2 69732806 . C . . NT END=69734552;NT GT ./. 2 69734711 . C . . NT END=69736362;NT GT ./. 2 69736596 . C . . NT END=69741602;NT GT ./. 2 69741854 rs6715776 T G 475 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=3479;PC=1.000;Gene=AAK1/NM_014911.3/1;CC=c.1525A>C;ProtCh=p.K509Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:124:50:0:0:1,123:9,4166:0.06,474.71:0.00,130.54:0.06,344.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:123.0,40.7:0,0:0,0:58,97:93,53:0,29:NM_014911.3(AAK1) c.=,NM_014911.3(AAK1) c.=:1,1:NOT_FOUND,NOT_FOUND 2 69741882 . C . . NT END=69746085;NT GT ./. 2 69746373 . C . . NT END=69747965;NT GT ./. 2 69748121 . C . . NT END=69752164;NT GT ./. 2 69752245 . C . . NT END=69754347;NT GT ./. 2 69754452 . C . . NT END=69757139;NT GT ./. 2 69757273 . C . . NT END=69757756;NT GT ./. 2 69757839 . C . . NT END=69758732;NT GT ./. 2 69758863 . A . . NT END=69759172;NT GT ./. 2 69759295 . C . . NT END=69769654;NT GT ./. 2 69769798 . C . . NT END=69771567;NT GT ./. 2 69771677 . C . . NT END=69783991;NT GT ./. 2 69784111 . C . . NT END=69870009;NT GT ./. 2 69786394 rs200888041 T TCA 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9844,A/0.01558;NP=1;NP=1;NP=3;NP=4;Gene=AAK1/NM_014911.3/1;CC=c.164-2285_164-2284insTG;VC=Intron;DM=AAK1/Pkinase;DM=AAK1/Pkinase;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:T,TCA:5:4:2:0:3,2:89,69:0.00,6.39:0.00,5.05:0.00,1.35:0.00,0.46:0.00,0.87:0.00,0.87:60,60:4.0,16.5:0,0:0,0:50,66:55,84:45,23:-,NM_014911.3(AAK1) c.164-2285_164-2284insTG:-,NOT_FOUND:-,NOT_FOUND 2 69870217 . AT A 67 idl,rn VT=DEL;SST=Single;DP=107;PC=0.732;Gene=AAK1/NM_014911.3/1;CC=c.-46delA;VC=5UTR;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,I,A:95:70:6:36:64,1,5,25:1886,10,193,1125:0.00,-0.16,10.32,67.28:0.00,-0.13,2.59,30.35:0.00,-0.03,7.74,36.94:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:43.1,72.0,68.2,45.7:0,0,1,11:0,0,0,0:89,39,66,62:46,112,84,87:38,0,13,23:-,NM_014911.3(AAK1) c.-69A[23]:-,NOT_FOUND:-,0.127034 2 69870407 . C . . NT END=69870706;NT GT ./. 2 69870978 . G . . NT END=70008697;NT GT ./. 2 70008708 . T . . NT END=70015185;NT GT ./. 2 70015108 rs11683908 A G 36 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.9573,G/0.04273;PC=0.004;Gene=ANXA4/NM_001153.3/1;CC=c.10-78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:19:0:0:9,11:277,372:0.00,36.47:0.00,35.08:0.00,1.39:0.00,1.00:0.00,1.00:0.00,0.92:60,60:26.7,34.8:0,0:0,0:9,35:142,116:6,22:-,NM_001153.3(ANXA4) c.10-78A>G:-,0.07:-,NOT_FOUND 2 70015181 rs10496171 C T 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7187,T/0.2813;Gene=ANXA4/NM_001153.3/1;CC=c.10-5C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:36:0:0:20,22:694,672:0.00,65.05:0.00,42.11:0.00,22.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.8,33.8:0,0:0,0:71,46:77,95:33,24:-,NM_001153.3(ANXA4) c.10-5C>T:-,0.25:-,0.233892 2 70015275 . T . . NT END=70031664;NT GT ./. 2 70015491 rs10186725 A G 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.494,G/0.506;PC=0.009;Gene=ANXA4/NM_001153.3/1;CC=c.97+218A>G;VC=Intron;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:174:19.78:0.00:19.78:1.00:0.00:1.00:60:38.4:0:0:109:42:33:NM_001153.3(ANXA4) c.97+218A>G,NM_001153.3(ANXA4) c.97+218A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 70031761 . T . . NT END=70033516;NT GT ./. 2 70031797 rs3771541 C G 103 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.3433,G/0.6567;Gene=ANXA4/NM_001153.3/1;CC=c.192+38C>G;VC=Intron;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:13:0:0:28:901:103.42:26.04:77.38:1.00:1.00:1.00:60:39.3:0:0:97:53:39:NM_001153.3(ANXA4) c.192+38C>G,NM_001153.3(ANXA4) c.192+38C>G:0.64,0.64:0.580065,0.580065 2 70031941 rs3771540 A G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3433,G/0.6567;PC=0.006;Gene=ANXA4/NM_001153.3/1;CC=c.192+182A>G;VC=Intron;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:117:13.57:0.00:13.57:1.00:0.00:1.00:60:53.0:0:0:107:43:12:NM_001153.3(ANXA4) c.192+182A>G,NM_001153.3(ANXA4) c.192+182A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 2 70033584 rs2228203 C T 130 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.7993,T/0.2007;PC=0.128;Gene=ANXA4/NM_001153.3/1;CC=c.260C>T;ProtCh=p.T87M;VC=Missense;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:45:0:0:28,39:921,1308:0.00,129.63:0.00,59.60:0.00,70.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,58.3:0,0:0,0:83,69:54,82:29,28:-,NM_001153.3(ANXA4) c.260C>T (p.Thr87Met):-,0.22:-,0.230278 2 70033631 . G . . NT END=70035037;NT GT ./. 2 70033649 rs17037076 G A 83 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7137,A/0.2863;Gene=ANXA4/NM_001153.3/1;CC=c.306+19G>A;VC=Intron;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:23:0:0:26,18:833,579:82.77,0.00:33.29,0.00:49.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.4,13.6:0,0:0,0:119,97:25,54:19,31:NM_001153.3(ANXA4) c.306+19G>A,-:0.3,-:0.316162,- 2 70033711 rs3771539 G C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.627,C/0.373;PC=0.023;Gene=ANXA4/NM_001153.3/1;CC=c.306+81G>C;VC=Intron;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:17:2:0:0:8,9:272,309:25.91,0.00:5.42,0.00:20.49,0.00:0.99,0.00:0.77,0.00:1.00,0.00:60,60:38.5,38.4:0,0:0,0:125,105:25,46:19,20:NM_001153.3(ANXA4) c.306+81G>C,-:0.34,-:NOT_FOUND,- 2 70033795 rs3771538 A T 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7143,T/0.2857;PC=0.007;Gene=ANXA4/NM_001153.3/1;CC=c.306+165A>T;VC=Intron;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,T:8:0:0:0:3,5:86,162:0.00,16.29:0.00,0.00:0.00,16.29:0.00,0.97:0.00,0.00:0.00,0.97:60,60:34.0,37.6:0,0:0,0:123,64:28,86:24,33:-,NM_001153.3(ANXA4) c.306+165A>T:-,0.3:-,NOT_FOUND 2 70034793 rs2168115 A G,T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3518,G/0.6482;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:G,T:5:5:0:0:4,1:126,11:14.12,0.89:14.12,0.89:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:42.5,87.0:0,0:0,0:46,52:104,99:11,0:NM_001153.3(ANXA4) c.307-245A>G,NM_001153.3(ANXA4) c.307-245A>T:0.63,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 70035130 . T . . NT END=70037725;NT GT ./. 2 70037807 . T . . NT END=70039784;NT GT ./. 2 70039677 rs2305523 A C 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3498,C/0.6502;Gene=ANXA4/NM_001153.3/1;CC=c.478-108A>C;VC=Intron;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:13:0:0:15:471:54.21:47.05:7.15:1.00:1.00:1.00:60:40.4:0:0:40:109:32:NM_001153.3(ANXA4) c.478-108A>C,NM_001153.3(ANXA4) c.478-108A>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 70039843 . T . . NT END=70043232;NT GT ./. 2 70043328 . T . . NT END=70045730;NT GT ./. 2 70045828 . T . . NT END=70046411;NT GT ./. 2 70046255 rs3732269 G C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7354,C/0.2646;Gene=ANXA4/NM_001153.3/1;CC=c.725-157G>C;VC=Intron;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:C,G,T:13:13:0:0:7,5,1:224,175,8:22.18,0.00,0.16:22.18,0.00,0.16:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:60,60,60:80.1,0.0,45.0:0,0,0:0,0,0:74,36,32:77,115,119:18,20,0:NM_001153.3(ANXA4) c.725-157G>C,-:0.24,-:NOT_FOUND,- 2 70046262 rs3732268 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8247,A/0.1753;Gene=ANXA4/NM_001153.3/1;CC=c.725-150G>A;VC=Intron;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G:13:13:0:0:7,6:237,161:23.21,0.00:23.21,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:80.1,7.5:0,0:0,0:81,41:70,109:18,12:NM_001153.3(ANXA4) c.725-150G>A,-:0.17,-:NOT_FOUND,- 2 70046472 . T . . NT END=70047830;NT GT ./. 2 70047644 rs2290452 G A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7919,A/0.2081;PC=0.015;Gene=ANXA4/NM_001153.3/1;CC=c.784-187G>A;VC=Intron;DM=ANXA4/Annexin;DM=ANXA4/Annexin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:16:16:0:0:5,11:142,309:12.29,0.00:12.29,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:60,60:34.2,17.5:0,0:0,0:25,49:125,102:7,41:NM_001153.3(ANXA4) c.784-187G>A,-:0.23,-:NOT_FOUND,- 2 70047955 . T . . NT END=70052587;NT GT ./. 2 70052649 . A . . NT END=70057024;NT GT ./. 2 70056866 rs28362672 A G 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.7328,G/0.2672,T/.;PC=0.963;Gene=GMCL1/NM_178439.3/1;CC=c.-159A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:28:28:0:0:14,1,13:405,11,421:0.00,0.12,40.18:0.00,0.12,40.18:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:1.3,117.0,61.5:0,0,0:0,0,0:57,14,25:93,125,126:30,0,21:-,NM_178439.3(GMCL1) c.-159A>G:-,0.24:-,NOT_FOUND 2 70057285 . G . . NT END=70064678;NT GT ./. 2 70057448 rs3732266 T G 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3438,G/0.6562;Gene=GMCL1/NM_178439.3/1;CC=c.260+164T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:0:0:0:23:731:84.07:0.00:84.07:1.00:0.00:1.00:60:41.3:0:0:91:60:32:NM_178439.3(GMCL1) c.260+164T>G,NM_178439.3(GMCL1) c.260+164T>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 70064803 . G . . NT END=70066588;NT GT ./. 2 70064927 rs1377996 C A 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7047,A/0.2953;Gene=GMCL1/NM_178439.3/1;CC=c.384+125C>A;VC=Intron;DM=GMCL1/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:12:0:0:0:6,6:191,208:18.35,0.00:0.00,0.00:18.35,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:31.8,4.5:0,0:0,0:103,124:47,26:41,15:NM_178439.3(GMCL1) c.384+125C>A,-:0.32,-:NOT_FOUND,- 2 70066571 rs575134179 C CTT 57 idl,nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8165,CTT/0.1835;DB;DBA=NA;PAF=C/0.8165,CT/.,CTT/0.1835,CTTT/.;NP=1;NP=277;PC=0.001;Gene=GMCL1/NM_178439.3/1;CC=c.385-9_385-8dupTT;VC=Intron;DM=GMCL1/BTB;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTT,D:33:28:22:1:14,18,1:441,706,33:0.00,56.81,2.04:0.00,29.62,0.98:0.00,27.19,1.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.2,14.5,0.0:0,4,0:0,0,0:52,60,33:98,90,117:28,31,0:-,NM_178439.3(GMCL1) c.385-18_385-17insTT:-,NOT_FOUND:-,NOT_FOUND 2 70066686 . G . . NT END=70068073;NT GT ./. 2 70068057 rs3771533 G A 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.8163,A/0.1837;PC=0.001;Gene=GMCL1/NM_178439.3/1;CC=c.482-17G>A;VC=Intron;DM=GMCL1/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:33:0:0:16,22:527,731:49.11,0.00:26.24,0.00:22.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,4.3:0,0:0,0:51,37:99,113:29,17:NM_178439.3(GMCL1) c.482-17G>A,-:0.22,-:0.215439,- 2 70068172 . G . . NT END=70070280;NT GT ./. 2 70068258 rs398080327 CT C 32 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CT/0.344,C/0.656;DB;DBA=NA;PAF=CT/0.344,C/0.656;DB;DBA=NA;PAF=CT/0.344,C/0.656;NP=1427;PC=0.017;Gene=GMCL1/NM_178439.3/1;CC=c.579+93delT;VC=Intron;DM=GMCL1/BTB;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:CT,C:10:2:0:9:1,9:32,293:0.00,32.18:0.00,6.76:0.00,25.42:0.00,1.00:0.00,0.99:0.00,1.00:60,60:0.0,1.1:0,0:0,0:149,119:1,32:0,12:-,NM_178439.3(GMCL1) c.579+88delT:-,0.64:-,NOT_FOUND 2 70070394 . G . . NT END=70071262;NT GT ./. 2 70071329 . G . . NT END=70074674;NT GT ./. 2 70074760 . G . . NT END=70076783;NT GT ./. 2 70076650 rs6546552 T C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8157,C/0.1843;PC=0.003;Gene=GMCL1/NM_178439.3/1;CC=c.844-134T>C;VC=Intron;DM=GMCL1/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:100,34:10.45,0.00:10.45,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:33.3,0.0:0,0:0,0:10,121:141,29:9,0:NM_178439.3(GMCL1) c.844-134T>C,-:0.22,-:NOT_FOUND,- 2 70076875 . G . . NT END=70081954;NT GT ./. 2 70076954 rs4852349 A T 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3185,T/0.6815;PC=0.035;Gene=GMCL1/NM_178439.3/1;CC=c.934+80A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:345:39.74:0.00:39.74:1.00:0.00:1.00:60:31.4:0:0:90:61:27:NM_178439.3(GMCL1) c.934+80A>T,NM_178439.3(GMCL1) c.934+80A>T:0.63,0.63:NOT_FOUND,NOT_FOUND 2 70082093 . G . . NT END=70088409;NT GT ./. 2 70088480 . G . . NT END=70092031;NT GT ./. 2 70092108 . G . . NT END=70096850;NT GT ./. 2 70096862 rs114517801 T C 116 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.9894,C/0.01058;PC=0.973;Gene=GMCL1/NM_178439.3/1;CC=c.1230T>C;ProtCh=p.R410=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:83:66:0:0:38,45:1223,1264:115.60,0.00:67.31,0.00:48.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,4.8:0,0:0,0:59,47:90,87:32,24:NM_178439.3(GMCL1) c.1230T>C (p.(=)),-:0.01,-:0.027833,- 2 70096997 . G . . NT END=70098876;NT GT ./. 2 70098808 rs3214007 A G 51 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3203,G/0.6797;PC=0.001;Gene=GMCL1/NM_178439.3/1;CC=c.1365-69A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:449:51.10:49.11:1.99:1.00:1.00:1.00:60:41.6:0:0:32:116:21:NM_178439.3(GMCL1) c.1365-69A>G,NM_178439.3(GMCL1) c.1365-69A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 70098965 . G . . NT END=70106040;NT GT ./. 2 70106137 . A . . NT END=70121116;NT GT ./. 2 70120909 rs397747233 GA G 25 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GA/0.6222,G/0.3778;DB;DBA=NA;PAF=GA/0.6222,G/0.3778;NP=356;PC=0.003;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:GA,G:12:12:0:9:3,9:105,239:0.00,25.24:0.00,25.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.3,52.4:0,0:0,0:62,53:89,96:9,13:-,NM_006857.2(SNRNP27) c.-42-u165delA:-,0.31:-,NOT_FOUND 2 70121151 . G . . NT END=70122225;NT GT ./. 2 70121197 rs2278934 T C 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.617,C/0.383,G/.;Gene=SNRNP27/NM_006857.2/1;CC=c.34+47T>C;VC=Intron;Gene=SNRNP27/NR_037862.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:24:0:0:26,23:775,780:75.10,0.00:16.90,0.00:58.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,0.4:0,0:0,0:120,125:30,26:19,13:NM_006857.2(SNRNP27) c.34+47T>C,-:0.32,-:0.316623,- 2 70121909 rs6714919 G A 9 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6296,A/0.3704;Gene=SNRNP27/NM_006857.2/1;CC=c.35-317G>A;VC=Intron;Gene=SNRNP27/NR_037862.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,G:4:4:0:0:3,1:89,18:9.36,0.00:7.78,0.00:1.58,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:76.3,63.0:0,0:0,0:70,94:81,57:0,0:NM_006857.2(SNRNP27) c.35-317G>A,-:0.3,-:NOT_FOUND,- 2 70122347 . G . . NT END=70123567;NT GT ./. 2 70123681 . G . . NT END=70124508;NT GT ./. 2 70123808 rs547198931 G GT 29 rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.6773,GT/0.3227;DB;DBA=NA;PAF=G/0.6773,GT/0.3227;DB;DBA=NA;PAF=G/0.9932,T/0.006789;NP=1;NP=58;Gene=SNRNP27/NM_006857.2/1;CC=c.268+141_268+142insT;VC=Intron;Gene=SNRNP27/NR_037862.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:28:5:11:0:17,1,10:502,34,353:0.00,2.16,29.03:0.00,-0.05,-0.64:0.00,2.21,29.68:0.00,0.00,1.00:0.00,0.00,0.87:0.00,0.00,1.00:60,60,60:9.9,46.0,17.6:0,0,1:0,0,0:134,44,94:17,107,52:12,0,21:-,NM_006857.2(SNRNP27) c.268+128_268+129insT:-,NOT_FOUND:-,NOT_FOUND 2 70124316 rs3752781 T A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4373,A/0.5627;PC=0.001;Gene=SNRNP27/NM_006857.2/1;CC=c.269-193T>A;VC=Intron;Gene=SNRNP27/NR_037862.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:41.2:0:0:16:134:9:NM_006857.2(SNRNP27) c.269-193T>A,NM_006857.2(SNRNP27) c.269-193T>A:0.53,0.53:NOT_FOUND,NOT_FOUND 2 70124589 . G . . NT END=70130312;NT GT ./. 2 70130378 . G . . NT END=70131385;NT GT ./. 2 70131320 rs397794501 G GT 18 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6494,GT/0.3506;DB;DBA=NA;PAF=G/0.6494,GT/0.3506;NP=534;PC=0.003;Gene=SNRNP27/NM_006857.2/1;CC=c.414-55dupT;VC=Intron;Gene=SNRNP27/NR_037862.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:G,GT:18:19:8:0:12,6:397,262:0.00,17.57:0.00,11.26:0.00,6.31:0.00,0.94:0.00,1.00:0.00,0.69:60,60:33.4,11.2:0,2:0,0:43,39:103,109:36,33:-,NM_006857.2(SNRNP27) c.414-66_414-65insT:-,NOT_FOUND:-,NOT_FOUND 2 70131441 . G . . NT END=70142462;NT GT ./. 2 70131584 rs1048130 G A 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8227,A/0.1773;Gene=SNRNP27/NM_006857.2/1;CC=c.*144G>A;VC=3UTR;Gene=SNRNP27/NR_037862.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:9:0:0:0:6,3:173,106:17.66,0.00:0.00,0.00:17.66,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:45.3,0.0:0,0:0,0:110,130:40,20:12,15:NM_006857.2(SNRNP27) c.*144G>A,-:0.21,-:NOT_FOUND,- 2 70142536 . G . . NT END=70143252;NT GT ./. 2 70143353 . G . . NT END=70148867;NT GT ./. 2 70148898 . G . . NT END=70162482;NT GT ./. 2 70162534 rs2228183 T G 330 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.4161,G/0.5839;PC=0.423;Gene=MXD1/NM_001202513.1/1;CC=c.255T>G;ProtCh=p.L85=;VC=Silent;Gene=MXD1/NM_001202514.1/0;CC=c.225T>G;ProtCh=p.L75=;VC=Silent;Gene=MXD1/NM_002357.3/0;CC=c.255T>G;ProtCh=p.L85=;VC=Silent;DM=MXD1/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:60:0:0:85:2895:330.01:158.69:171.32:1.00:1.00:1.00:60:36.5:0:0:81:62:33:NM_002357.3(MXD1) c.255T>G (p.(=)),NM_002357.3(MXD1) c.255T>G (p.(=)):0.55,0.55:0.54744,0.54744 2 70162598 . G . . NT END=70164366;NT GT ./. 2 70164527 . G . . NT END=70165228;NT GT ./. 2 70164580 rs71245655 C CAGGG 155 nt VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.4107,CAGGG/0.5893;DB;DBA=NA;PAF=C/0.4107,CAGGG/0.5893;DB;DBA=NA;PAF=C/0.4107,CAGGG/0.5893;NP=118;PC=0.022;Gene=MXD1/NM_001202513.1/1;CC=c.478+55_478+58dupAGGG;VC=Intron;Gene=MXD1/NM_001202514.1/0;CC=c.448+55_448+58dupAGGG;VC=Intron;Gene=MXD1/NM_002357.3/0;CC=c.478+55_478+58dupAGGG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,G,CAGGG:54:18:46:0:7,1,46:229,25,1423:0.00,1.22,155.22:0.00,-0.02,31.36:0.00,1.24,123.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.7,25.0,18.2:0,0,0:0,0,0:141,1,104:5,150,45:5,0,21:-,NM_002357.3(MXD1) c.478+54_478+55insAGGG:-,0.54:-,NOT_FOUND 2 70164805 rs3771530 G C 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4946,C/0.5054;PC=0.515;Gene=MXD1/NM_001202513.1/1;CC=c.478+279G>C;VC=Intron;Gene=MXD1/NM_001202514.1/0;CC=c.448+279G>C;VC=Intron;Gene=MXD1/NM_002357.3/0;CC=c.478+279G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:C,G:8:2:0:0:7,1:213,34:23.33,0.00:3.27,0.00:20.06,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:40.0,88.0:0,0:0,0:119,135:32,2:28,0:NM_002357.3(MXD1) c.478+279G>C,-:0.48,-:NOT_FOUND,- 2 70165417 . G . . NT END=70187788;NT GT ./. 2 70188676 rs3796097 T C 354 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.3019,C/0.6981;Gene=ASPRV1/NM_152792.2/1;CC=c.145A>G;ProtCh=p.T49A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:97:57:0:0:97:3078:353.73:168.79:184.94:1.00:1.00:1.00:60:39.1:0:0:65:70:39:NM_152792.2(ASPRV1) c.145A>G (p.Thr49Ala),NM_152792.2(ASPRV1) c.145A>G (p.Thr49Ala):0.67,0.67:0.631478,0.631478 2 70188821 . T . . NT END=70314875;NT GT ./. 2 70249494 rs144531402 TAC T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=98;PC=0.015;Gene=PCBP1-AS1/NR_033872.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TAC,T:5:2:0:4:2,3:64,126:0.00,9.33:0.00,5.16:0.00,4.16:0.00,0.73:0.00,0.79:0.00,0.96:60,60:6.0,15.7:0,1:0,0:100,79:50,72:0,14:-,NR_033872.1(PCBP1-AS1) n.651+9769_651+9770delGT:-,NOT_FOUND:-,NOT_FOUND 2 70315947 . A . . NT END=70377487;NT GT ./. 2 70347170 . TTG T 10 idl,rn VT=DEL;SST=Single;DP=8;NP=8;PC=0.008;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:TTG,I,T:7:7:2:4:2,2,3:66,50,126:0.00,4.50,9.55:0.00,2.15,6.20:0.00,2.35,3.35:0.00,0.00,0.67:0.00,0.00,0.95:0.00,0.00,0.95:60,60,60:58.5,65.0,0.0:0,0,1:0,0,0:88,65,22:57,85,121:0,12,6:-,chr2 g.70347171_70347172delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 70377653 rs12989348 G A 145 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.9657,A/0.03435;PC=0.284;Gene=C2orf42/NM_017880.1/1;CC=c.1560C>T;ProtCh=p.I520=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:36:0:0:46,41:1493,1363:145.13,0.00:30.57,0.00:114.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,6.6:0,0:0,0:87,97:59,49:35,24:NM_017880.1(C2orf42) c.1560C>T (p.(=)),-:0.06,-:0.097878,- 2 70377697 . C . . NT END=70387756;NT GT ./. 2 70387920 . C . . NT END=70392223;NT GT ./. 2 70392325 . C . . NT END=70392659;NT GT ./. 2 70392768 . C . . NT END=70396688;NT GT ./. 2 70396794 . C . . NT END=70402804;NT GT ./. 2 70402910 . C . . NT END=70406663;NT GT ./. 2 70406775 . C . . NT END=70408294;NT GT ./. 2 70406916 rs4853373 A T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4998,T/0.5002;PC=0.006;Gene=C2orf42/NM_017880.1/1;CC=c.824-142T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,T:6:0:0:0:2,4:53,130:0.00,13.25:0.00,0.00:0.00,13.25:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,68.2:0,0:0,0:52,78:99,66:50,17:-,NM_017880.1(C2orf42) c.824-142T>A:-,0.46:-,NOT_FOUND 2 70409118 . T . . NT END=70439875;NT GT ./. 2 70439978 . C . . NT END=70441480;NT GT ./. 2 70441331 rs78211293 T TA 39 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9321,TA/0.06789;NP=98;PC=0.001;Gene=TIA1/NM_022037.2/0;CC=c.1001+149dupT;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.1034+149dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:24:24:13:0:11,13:359,402:0.00,39.21:0.00,39.21:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.6,35.5:0,0:0,0:72,45:78,106:39,31:-,NM_022173.2(TIA1) c.1034+149_1034+150insT:-,0.08:-,NOT_FOUND 2 70441361 rs72841145 G A 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.9056,A/0.09445;PC=0.003;Gene=TIA1/NM_022037.2/0;CC=c.1001+120C>T;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.1034+120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:31:31:0:0:17,13,1:528,404,11:51.96,0.00,0.13:50.32,0.00,0.14:1.64,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:0.83,0.00,0.00:60,60,60:37.6,3.9,11.0:0,0,0:0,0,0:50,54,102:100,96,48:33,45,0:NM_022173.2(TIA1) c.1034+120C>T,-:0.09,-:NOT_FOUND,- 2 70441627 . C . . NT END=70442502;NT GT ./. 2 70441775 rs2305144 A C,AC 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.009585,C/0.9904 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:C,AC:12:0:1:0:11,1:349,33:39.71,2.70:0.00,0.00:39.71,2.70:1.00,0.00:0.00,0.00:1.00,0.00:60,60:68.7,36.0:0,0:0,0:87,102:64,49:52,0:NM_022173.2(TIA1) c.889-149T>G,NM_022173.2(TIA1) c.889-150_889-149insG:0.42,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 70441783 rs370811118 A C 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.009585,C/0.9904;DB;DBA=NA;PAF=NA;Gene=TIA1/NM_022037.2/0;CC=c.856-157T>G;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.889-157T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:332:38.40:0.00:38.40:1.00:0.00:1.00:60:65.0:0:0:68:83:47:NM_022173.2(TIA1) c.889-157T>G,NM_022173.2(TIA1) c.889-157T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 70442627 . C . . NT END=70443339;NT GT ./. 2 70442792 rs2289920 T C 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9056,C/0.09445;PC=0.001;Gene=TIA1/NM_022037.2/0;CC=c.732-166A>G;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.765-166A>G;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:1:0:0:10,8:304,270:29.80,0.00:-0.35,0.00:30.15,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:33.5,2.8:0,0:0,0:122,57:28,93:19,39:NM_022173.2(TIA1) c.765-166A>G,-:0.09,-:NOT_FOUND,- 2 70443425 . C . . NT END=70443535;NT GT ./. 2 70443632 . C . . NT END=70443884;NT GT ./. 2 70444127 . C . . NT END=70451685;NT GT ./. 2 70444436 rs112509261 G T 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.905,T/0.09505;PC=0.037;Gene=TIA1/NM_022037.2/0;CC=c.442-310C>A;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.475-310C>A;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:G,T:5:0:0:0:3,2:91,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:60,60:0.0,34.5:0,0:0,0:102,80:46,69:45,41:-,NM_022173.2(TIA1) c.475-310C>A:-,0.09:-,NOT_FOUND 2 70452405 rs144221576 T G 127 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.9986,G/0.001398;NP=18;PC=1.000;Gene=TIA1/NM_022037.2/0;CC=c.366-644A>C;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.399-644A>C;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:75:53:0:0:41,34:1302,1065:127.29,0.00:67.61,0.00:59.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,13.9:0,0:0,0:76,73:73,72:34,42:NM_022173.2(TIA1) c.399-644A>C,-:0.0023,-:NOT_FOUND,- 2 70452526 . C . . NT END=70454866;NT GT ./. 2 70454794 rs2592181 G C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7242,C/0.2758;Gene=TIA1/NM_022037.2/0;CC=c.365+73C>G;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.398+73C>G;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,G:19:19:0:0:13,6:443,200:45.36,0.00:41.94,0.00:3.41,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.8,4.0:0,0:0,0:39,35:112,114:19,17:NM_022173.2(TIA1) c.398+73C>G,-:0.28,-:NOT_FOUND,- 2 70454955 . C . . NT END=70455475;NT GT ./. 2 70455705 . T TTTTG 31 PASS VT=INS;SST=Single;DP=67;PC=0.993;Gene=TIA1/NM_022037.2/0;CC=c.277+690_277+691insCAAA;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.310+485_310+486insCAAA;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTTG:67:37:12:0:55,12:1694,385:0.00,30.56:0.00,14.02:0.00,16.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,71.8:0,0:0,0:92,59:57,91:37,12:-,NM_022173.2(TIA1) c.310+485_310+486insCAAA:-,NOT_FOUND:-,NOT_FOUND 2 70455708 . C A 33 idl VT=SNV;PN=T;NN=A;SST=Single;DP=58;PC=0.935;Gene=TIA1/NM_022037.2/0;CC=c.277+688G>T;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.310+483G>T;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:58:34:0:0:13,45:406,1523:33.41,0.00:12.80,0.00:20.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.4,5.4:13,0:0,0:69,63:82,85:13,40:NM_022173.2(TIA1) c.310+483G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 70455709 . A ATTGTTTCTTTTTTTG 36 PASS VT=INS;SST=Single;DP=57;PC=0.996;Gene=TIA1/NM_022037.2/0;CC=c.277+686_277+687insCAAAAAAAGAAACAA;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.310+481_310+482insCAAAAAAAGAAACAA;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATTGTTTCTTTTTTTG:57:34:13:0:44,13:1427,428:0.00,35.72:0.00,12.79:0.00,22.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,71.4:0,0:0,0:65,70:82,81:40,13:-,NM_022173.2(TIA1) c.310+481_310+482insCAAAAAAAGAAACAA:-,NOT_FOUND:-,NOT_FOUND 2 70455711 . A T 37 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=57;PC=1.000;Gene=TIA1/NM_022037.2/0;CC=c.277+685T>A;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.310+480T>A;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:57:34:0:0:44,13:1434,436:0.00,36.51:0.00,13.59:0.00,22.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,71.4:0,0:0,0:67,87:80,64:40,13:-,NM_022173.2(TIA1) c.310+480T>A:-,NOT_FOUND:-,NOT_FOUND 2 70455907 rs964392 A G 324 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.3786,G/0.6214;PC=0.449;Gene=TIA1/NM_022037.2/0;CC=c.277+489T>C;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.310+284T>C;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:85:58:0:0:1,84:12,2846:0.18,324.15:0.00,179.39:0.18,144.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,39.7:0,0:0,0:69,62:82,85:0,46:NM_022173.2(TIA1) c.310+284T>C,NM_022173.2(TIA1) c.310+284T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 70456224 . C . . NT END=70456395;NT GT ./. 2 70456451 . C . . NT END=70457887;NT GT ./. 2 70456452 . T TA 15 idl,rn VT=INS;SST=Single;DP=65;NP=1;PC=1.000;Gene=TIA1/NM_022037.2/0;CC=c.223-3dupT;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.223-3dupT;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,T,TA,D:64:39:8:5:1,51,7,5:10,1516,240,166:-0.19,0.00,14.97,11.66:-0.15,0.00,3.96,9.93:-0.04,0.00,11.02,1.74:0.00,0.00,0.90,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.97,0.00:60,60,60,60:53.0,11.9,12.6,4.0:0,0,1,0:0,0,0,0:9,79,85,58:141,58,55,90:0,30,21,15:-,NM_022173.2(TIA1) c.223-3_223-2insT:-,NOT_FOUND:-,NOT_FOUND 2 70456586 rs2706768 C T 105 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.3614,T/0.6386;Gene=TIA1/NM_022037.2/0;CC=c.223-136G>A;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.223-136G>A;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:0:0:0:29:916:105.33:0.00:105.33:1.00:0.00:1.00:60:38.2:0:0:103:48:33:NM_022173.2(TIA1) c.223-136G>A,NM_022173.2(TIA1) c.223-136G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 70457740 rs1823103 T C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4609,C/0.5391;PC=0.001;Gene=TIA1/NM_022037.2/0;CC=c.222+148A>G;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.222+148A>G;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,T:8:8:0:0:4,4:131,116:12.60,0.00:12.60,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:38.2,41.5:0,0:0,0:91,24:59,126:4,12:NM_022173.2(TIA1) c.222+148A>G,-:0.51,-:NOT_FOUND,- 2 70457784 rs5832003 C CA 14 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5709,CA/0.4291,CAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5709,CA/0.4291,CAA/.,CAAA/.;NP=14;NP=9;PC=0.383;Gene=TIA1/NM_022037.2/0;CC=c.222+103_222+104insT;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.222+103_222+104insT;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,CA:10:14:9:0:5,5:170,282:0.00,14.49:0.00,14.49:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:27.8,80.2:0,4:0,0:137,24:13,126:4,19:-,NM_022173.2(TIA1) c.222+103_222+104insT:-,NOT_FOUND:-,NOT_FOUND 2 70457987 . C . . NT END=70463204;NT GT ./. 2 70462673 rs70956956 A AGTGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=14;NP=2;NP=22;PC=0.118;Gene=TIA1/NM_022037.2/0;CC=c.123+537_123+538insACACAC;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.123+537_123+538insACACAC;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,AGTGTGT:3:3:3:0:1,2:34,99:0.00,6.75:0.00,6.90:0.00,-0.15:0.00,0.51:0.00,0.89:0.00,0.79:60,70:35.0,81.5:0,1:0,0:141,68:10,83:0,26:-,NM_022173.2(TIA1) c.123+537_123+538insACACAC:-,NOT_FOUND:-,NOT_FOUND 2 70462707 rs74814151 T C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9355,C/0.0645;PC=0.343;Gene=TIA1/NM_022037.2/0;CC=c.123+504A>G;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.123+504A>G;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:1:0:0:4:102:11.94:4.08:7.87:1.00:1.00:1.00:60:70.2:0:0:74:76:22:NM_022173.2(TIA1) c.123+504A>G,NM_022173.2(TIA1) c.123+504A>G:0.07,0.07:NOT_FOUND,NOT_FOUND 2 70462720 rs59876127 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9319,C/0.06809;Gene=TIA1/NM_022037.2/0;CC=c.123+491A>G;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.123+491A>G;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:142:16.11:3.98:12.13:1.00:1.00:1.00:60:70.2:0:0:87:63:22:NM_022173.2(TIA1) c.123+491A>G,NM_022173.2(TIA1) c.123+491A>G:0.08,0.08:NOT_FOUND,NOT_FOUND 2 70463168 . TA T 7 idl,rn VT=DEL;SST=Single;DP=30;NP=14;PC=0.012;Gene=TIA1/NM_022037.2/0;CC=c.123+42delT;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.123+42delT;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:TA,T:28:29:0:5:25,3:759,160:0.00,6.79:0.00,6.95:0.00,-0.16:0.00,0.43:0.00,0.88:0.00,0.45:60,60:6.1,12.7:0,2:0,0:45,55:103,93:36,9:-,NM_022173.2(TIA1) c.123+42delT:-,NOT_FOUND:-,NOT_FOUND 2 70463308 . C . . NT END=70475536;NT GT ./. 2 70463334 . CT C 7 idl,rn VT=DEL;SST=Single;DP=29;NP=32;PC=0.004;Gene=TIA1/NM_022037.2/0;CC=c.27-28delA;VC=Intron;Gene=TIA1/NM_022173.2/1;CC=c.27-28delA;VC=Intron;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;DM=TIA1/RRM_1;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:CT,I,C:26:12:5:3:21,2,3:684,161,93:0.00,4.38,6.78:0.00,3.61,-0.26:0.00,0.78,7.04:0.00,0.00,0.43:0.00,0.00,0.65:0.00,0.00,0.85:60,60,60:12.6,34.0,0.0:0,3,0:0,0,0:89,54,37:58,96,113:30,6,35:-,NM_022173.2(TIA1) c.27-28delA:-,NOT_FOUND:-,NOT_FOUND 2 70475588 . C . . NT END=70485296;NT GT ./. 2 70475827 rs72841156 T G 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.9147,G/0.08526 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:1:0:0:10,11:303,355:28.73,0.00:3.35,0.00:25.38,0.00:1.00,0.00:0.65,0.00:1.00,0.00:60,60:63.5,11.4:0,0:0,0:100,95:50,56:38,36:NM_022173.2(TIA1) c.-217-u48A>C,-:0.08,-:NOT_FOUND,- 2 70475933 rs2592177 T G 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1152,G/0.8848 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:168:19.18:0.00:19.18:1.00:0.00:1.00:60:42.8:0:0:111:39:11:NM_022173.2(TIA1) c.-217-u154A>C,NM_022173.2(TIA1) c.-217-u154A>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 70481171 rs75670342 G A 58 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9265,A/0.07348;PC=0.361 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:7:0:0:17,8:562,270:57.50,0.00:11.08,0.00:46.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,0.0:0,0:0,0:112,121:29,29:25,13:NM_016297.3(PCYOX1) c.-66-u4060G>A,-:0.08,-:NOT_FOUND,- 2 70485174 rs13019683 A C 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9453,C/0.05471 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:32:0:0:14,18:460,538:0.00,52.82:0.00,53.00:0.00,-0.18:0.00,1.00:0.00,1.00:0.00,0.71:60,60:10.1,47.8:0,0:0,0:30,35:112,116:19,20:-,NM_016297.3(PCYOX1) c.-66-u57A>C:-,0.08:-,NOT_FOUND 2 70485320 rs11556184 C T 166 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.9311,T/0.06889;Gene=PCYOX1/NM_016297.3/1;CC=c.24C>T;ProtCh=p.L8=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:132:102:0:0:71,2,59:2258,21,1773:0.00,-0.14,166.43:0.00,0.09,89.48:0.00,-0.24,76.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.4,29.5,43.7:0,0,0:0,0,0:67,36,58:69,114,88:35,12,27:-,NM_016297.3(PCYOX1) c.24C>T (p.(=)):-,0.08:-,0.050138 2 70485409 . G . . NT END=70486491;NT GT ./. 2 70485581 rs12615873 G C 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9069,C/0.09305;Gene=PCYOX1/NM_016297.3/1;CC=c.112+173G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:17:0:0:0:9,8:287,255:27.87,0.00:0.00,0.00:27.87,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.9,27.9:0,0:0,0:124,131:27,19:14,16:NM_016297.3(PCYOX1) c.112+173G>C,-:0.1,-:NOT_FOUND,- 2 70486407 rs750156 T C 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.9075,C/0.09245;Gene=PCYOX1/NM_016297.3/1;CC=c.113-85T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:29:0:0:18,11:556,385:55.80,0.00:54.18,0.00:1.62,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:40.8,1.9:0,0:0,0:55,58:95,93:37,42:NM_016297.3(PCYOX1) c.113-85T>C,-:0.09,-:NOT_FOUND,- 2 70486475 rs397818965 G GT 93 rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.9081,GT/.,GTTTTC/0.005591,GTTTTT/0.08626;DB;DBA=NA;PAF=NA;NP=372;Gene=PCYOX1/NM_016297.3/1;CC=c.113-10dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:66:57:31:0:35,31:1151,977:0.00,92.68:0.00,74.29:0.00,18.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,19.5:0,0:0,0:47,60:101,87:24,26:-,NM_016297.3(PCYOX1) c.113-17_113-16insT:-,0.09:-,0.076038 2 70486699 . G . . NT END=70488343;NT GT ./. 2 70488519 . G . . NT END=70502090;NT GT ./. 2 70495188 rs76185979 G A 10 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9315,A/0.06849;PC=0.143;Gene=PCYOX1/NM_016297.3/1;CC=c.494+6670G>A;VC=Intron;DM=PCYOX1/Prenylcys_lyase;DM=PCYOX1/Prenylcys_lyase;DM=PCYOX1/Prenylcys_lyase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:3:0:0:3,1:96,36:10.05,0.00:9.03,0.00:1.02,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,60:41.0,0.0:0,0:0,0:82,104:69,47:65,0:NM_016297.3(PCYOX1) c.494+6670G>A,-:0.08,-:NOT_FOUND,- 2 70502303 . G . . NT END=70502645;NT GT ./. 2 70502799 . G . . NT END=70503865;NT GT ./. 2 70502811 rs112551993 T TTCTG 50 nt VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.9221,TCTG/.,TTCTC/0.008786,TTCTG/0.06909;NP=11;NP=412;PC=0.013;Gene=PCYOX1/NM_016297.3/1;CC=c.859+16_859+17insGTCT;VC=Intron;DM=PCYOX1/Prenylcys_lyase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTCTG:55:20:17:0:38,17:1185,565:0.00,49.86:0.00,10.53:0.00,39.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,11.4:1,0:0,0:112,87:38,47:27,40:-,NM_016297.3(PCYOX1) c.859+13_859+14insTCTG:-,NOT_FOUND:-,0.050008 2 70502930 rs17005439 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5282,G/0.4718;Gene=PCYOX1/NM_016297.3/1;CC=c.859+132A>G;VC=Intron;DM=PCYOX1/Prenylcys_lyase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:11:0:0:0:5,6:167,200:0.00,19.57:0.00,0.00:0.00,19.57:0.00,0.98:0.00,0.00:0.00,0.98:60,60:1.4,39.7:0,0:0,0:121,135:30,15:16,11:-,NM_016297.3(PCYOX1) c.859+132A>G:-,0.5:-,NOT_FOUND 2 70504525 . A . . NT END=70508765;NT GT ./. 2 70508817 . C . . NT END=70515199;NT GT ./. 2 70515067 rs201454758 G GTT 37 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=2120;PC=0.049;Gene=SNRPG/NM_001317167/0;CC=c.156+132_156+133insAA;VC=Intron;Gene=SNRPG/NM_001317168/0;CC=c.144+132_144+133insAA;VC=Intron;Gene=SNRPG/NM_001317169/0;CC=c.144+132_144+133insAA;VC=Intron;Gene=SNRPG/NM_001317165/0;CC=c.180+132_180+133insAA;VC=Intron;Gene=SNRPG/NM_001317166/0;CC=c.177+135_177+136insAA;VC=Intron;Gene=SNRPG/NM_001317171/0;CC=c.126+132_126+133insAA;VC=Intron;Gene=SNRPG/NM_003096.2/1;CC=c.180+132_180+133insAA;VC=Intron;DM=SNRPG/LSM;DM=SNRPG/LSM;DM=SNRPG/LSM;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GTT:26:26:12:0:12,2,12:407,55,385:0.00,3.82,36.97:0.00,3.82,36.97:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:3.7,27.5,0.8:0,0,0:0,0,0:69,1,79:81,150,71:44,0,20:-,NM_003096.2(SNRPG) c.180+132_180+133insAA:-,NOT_FOUND:-,NOT_FOUND 2 70515325 . C . . NT END=70516481;NT GT ./. 2 70516505 . C . . NT END=70520749;NT GT ./. 2 70516661 rs17581778 G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9317,A/0.06829;Gene=SNRPG/NM_001317167/0;CC=c.9-157C>T;VC=Intron;Gene=SNRPG/NM_001317168/0;CC=c.-4-157C>T;VC=Intron;Gene=SNRPG/NM_001317169/0;CC=c.-4-157C>T;VC=Intron;Gene=SNRPG/NM_001317165/0;CC=c.33-157C>T;VC=Intron;Gene=SNRPG/NM_001317166/0;CC=c.33-157C>T;VC=Intron;Gene=SNRPG/NM_001317171/0;CC=c.2-1337C>T;VC=Intron;Gene=SNRPG/NM_003096.2/1;CC=c.33-157C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:0:0:0:3,1:96,35:10.05,0.00:0.00,0.00:10.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:39.7,0.0:0,0:0,0:84,102:67,49:46,0:NM_003096.2(SNRPG) c.33-157C>T,-:0.08,-:NOT_FOUND,- 2 70520782 . G . . NT END=70524420;NT GT ./. 2 70520846 rs15656 C T 89 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.9309,A/.,G/.,T/0.06909;PC=0.004;Gene=SNRPG/NM_001317165/0;CC=c.-65G>A;VC=5UTR;Gene=SNRPG/NM_001317166/0;CC=c.-65G>A;VC=5UTR;Gene=SNRPG/NM_001317171/0;CC=c.-96G>A;VC=5UTR;Gene=SNRPG/NM_003096.2/1;CC=c.-65G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:29:0:0:19,29:629,894:0.00,89.21:0.00,37.61:0.00,51.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,58.3:0,0:0,0:101,102:50,49:28,17:-,NM_003096.2(SNRPG) c.-65G>A:-,0.08:-,0.053876 2 70520875 rs4567961 C T 61 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.8736,T/0.1264;PC=0.849;Gene=SNRPG/NM_001317165/0;CC=c.-94G>A;VC=5UTR;Gene=SNRPG/NM_001317166/0;CC=c.-94G>A;VC=5UTR;Gene=SNRPG/NM_001317171/0;CC=c.-125G>A;VC=5UTR;Gene=SNRPG/NM_003096.2/1;CC=c.-94G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:17:0:0:13,21:452,609:0.00,60.97:0.00,21.81:0.00,39.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,67.1:0,0:0,0:67,117:84,31:16,14:-,NM_003096.2(SNRPG) c.-88-u6G>A:-,0.12:-,NOT_FOUND 2 70524577 rs2618235 G A 182 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.7362,A/0.2638;PC=0.022;Gene=FAM136A/NM_032822.2/1;CC=c.261C>T;ProtCh=p.N87=;VC=Silent;DM=FAM136A/DUF842 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:77:0:0:58,62:1905,1968:182.09,0.00:71.51,0.00:110.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,7.5:0,0:0,0:89,63:60,75:27,27:NM_032822.2(FAM136A) c.261C>T (p.(=)),-:0.27,-:0.265108,- 2 70524610 . C . . NT END=70527971;NT GT ./. 2 70524753 . GT G 13 idl,rn VT=DEL;SST=Single;DP=25;Gene=FAM136A/NM_032822.2/1;CC=c.229-145delA;VC=Intron;DM=FAM136A/DUF842;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:GT,I,G:24:0:2:6:17,2,5:522,46,187:0.00,2.76,13.05:0.00,0.00,0.00:0.00,2.76,13.05:0.00,0.00,0.83:0.00,0.00,0.00:0.00,0.00,0.83:60,60,60:37.1,69.5,18.2:0,0,1:0,0,0:139,58,73:12,90,76:9,12,20:-,NM_032822.2(FAM136A) c.229-145delA:-,NOT_FOUND:-,NOT_FOUND 2 70528113 . C . . NT END=70528539;NT GT ./. 2 70528601 rs2279158 T C 267 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=184;DB;DBA=NA;PAF=T/0.7935,C/0.2065;Gene=FAM136A/NM_032822.2/1;CC=c.87+456A>G;VC=Intron;DM=FAM136A/DUF842 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:184:156:0:0:83,101:2821,3053:266.68,0.00:181.73,0.00:84.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,8.3:0,0:0,0:58,66:85,82:31,30:NM_032822.2(FAM136A) c.87+456A>G,-:0.18,-:NOT_FOUND,- 2 70528736 . C . . NT END=70528801;NT GT ./. 2 70528827 rs2279159 G A 353 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=245;DB;DBA=NA;PAF=G/0.5821,A/0.4179;Gene=FAM136A/NM_032822.2/1;CC=c.87+230C>T;VC=Intron;DM=FAM136A/DUF842 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:245:159:0:0:112,132,1:3727,4050,12:353.06,0.00,-0.16:164.91,0.00,-0.12:188.14,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.1,7.5,66.0:0,0,0:0,0,0:68,69,23:80,74,127:36,39,0:NM_032822.2(FAM136A) c.87+230C>T,-:0.41,-:NOT_FOUND,- 2 70529242 rs2952467 T C 991 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=280;DB;DBA=NA;PAF=T/0.3988,C/0.6012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:280:167:0:0:279,1:8586,11:990.57,0.06:441.12,0.00:549.45,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,129.0:0,0:0,0:90,90:57,61:32,0:NM_032822.2(FAM136A) c.-77-u22A>G,NM_032822.2(FAM136A) c.-77-u22A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 2 70529294 . G . . NT END=70677990;NT GT ./. 2 70529525 rs192854603 C T 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.9982,T/0.001797;NP=12;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:0:0:0:12,14:332,421:0.00,40.97:0.00,0.00:0.00,40.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:43.8,33.0:0,0:0,0:67,60:80,89:26,37:-,NM_032822.2(FAM136A) c.-77-u305G>A:-,0.0027:-,NOT_FOUND 2 70529602 rs187311783 C T 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.9936,T/0.00639;NP=38;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:8,10:247,271:0.00,26.44:0.00,0.00:0.00,26.44:0.00,1.00:0.00,0.00:0.00,1.00:60,60:35.2,86.4:0,0:0,0:120,94:30,56:10,39:-,NM_032822.2(FAM136A) c.-77-u382G>A:-,0.01:-,NOT_FOUND 2 70529614 rs2952468 T C 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5579,C/0.4421;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:8,7:270,215:26.32,0.00:0.00,0.00:26.32,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:78.6,36.4:0,0:0,0:79,127:72,24:31,11:NM_032822.2(FAM136A) c.-77-u394A>G,-:0.42,-:NOT_FOUND,- 2 70576823 rs368340367 GCACACA A,G 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=63;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,I,G:4:3:1:3:1,1,2:34,34,67:3.28,3.28,7.05:1.64,0.00,3.53:1.64,3.28,3.53:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.51:60,60,60:97.0,0.0,5.0:0,0,0:0,0,0:13,98,58:138,53,88:0,0,21:chr2 g.70576823_70576828delGCACAC (intergenic),chr2 g.70576824_70576829delCACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 70677994 rs2166975 G A 88 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.7925,A/0.2075;PC=1.000;Gene=TGFA/NM_001308158.1/0;CC=c.498C>T;ProtCh=p.V166=;VC=Silent;Gene=TGFA/NM_001308159.1/0;CC=c.495C>T;ProtCh=p.V165=;VC=Silent;Gene=TGFA/NM_001099691.2/0;CC=c.477C>T;ProtCh=p.V159=;VC=Silent;Gene=TGFA/NM_003236.3/1;CC=c.480C>T;ProtCh=p.V160=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:55:0:0:29,40:944,1343:87.86,0.00:52.36,0.00:35.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,3.1:0,0:0,0:59,63:92,85:36,31:NM_003236.3(TGFA) c.480C>T (p.(=)),-:0.21,-:0.235199,- 2 70677999 . C . . NT END=70680349;NT GT ./. 2 70678173 rs3732249 C A 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.746,A/0.254;PC=0.069;Gene=TGFA/NM_001308158.1/0;CC=c.494-175G>T;VC=Intron;Gene=TGFA/NM_001308159.1/0;CC=c.491-175G>T;VC=Intron;Gene=TGFA/NM_001099691.2/0;CC=c.473-175G>T;VC=Intron;Gene=TGFA/NM_003236.3/1;CC=c.476-175G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:21:0:0:0:12,8,1:354,217,12:35.24,0.00,0.32:0.00,0.00,0.00:35.24,0.00,0.32:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:61.6,27.9,23.0:0,0,0:0,0,0:120,115,45:30,36,106:20,13,0:NM_003236.3(TGFA) c.476-175G>T,-:0.25,-:NOT_FOUND,- 2 70678176 rs3732248 G A 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.7925,A/0.2075;Gene=TGFA/NM_001308158.1/0;CC=c.494-178C>T;VC=Intron;Gene=TGFA/NM_001308159.1/0;CC=c.491-178C>T;VC=Intron;Gene=TGFA/NM_001099691.2/0;CC=c.473-178C>T;VC=Intron;Gene=TGFA/NM_003236.3/1;CC=c.476-178C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:0:0:0:10,9:323,210:31.40,0.00:0.00,0.00:31.40,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.6,27.3:0,0:0,0:115,114:35,37:12,19:NM_003236.3(TGFA) c.476-178C>T,-:0.21,-:NOT_FOUND,- 2 70680211 . CT C 18 nt VT=DEL;SST=Single;DP=24;NP=746;Gene=TGFA/NM_001308158.1/0;CC=c.493+138delA;VC=Intron;Gene=TGFA/NM_001308159.1/0;CC=c.490+138delA;VC=Intron;Gene=TGFA/NM_001099691.2/0;CC=c.472+138delA;VC=Intron;Gene=TGFA/NM_003236.3/1;CC=c.475+138delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:CT,C:24:24:0:7:17,7:504,213:0.00,18.35:0.00,18.35:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,70:17.1,11.0:0,0:0,0:37,42:114,107:27,37:-,NM_003236.3(TGFA) c.475+138delA:-,0.22:-,NOT_FOUND 2 70680460 . C . . NT END=70683470;NT GT ./. 2 70683621 . C . . NT END=70692747;NT GT ./. 2 70683753 rs2278791 T C 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.7095,C/0.2905;Gene=TGFA/NM_001308158.1/0;CC=c.234-133A>G;VC=Intron;Gene=TGFA/NM_001308159.1/0;CC=c.231-133A>G;VC=Intron;Gene=TGFA/NM_001099691.2/0;CC=c.213-133A>G;VC=Intron;Gene=TGFA/NM_003236.3/1;CC=c.216-133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:32:1:0:0:15,1,16:504,10,499:48.23,0.04,0.00:-0.27,-0.01,0.00:48.50,0.05,0.00:1.00,0.00,0.00:0.65,0.00,0.00:1.00,0.00,0.00:60,60,60:36.2,205.0,2.6:0,0,0:0,0,0:112,55,111:39,95,40:18,0,27:NM_003236.3(TGFA) c.216-133A>G,-:0.28,-:NOT_FOUND,- 2 70692557 rs3732247 C T 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7923,T/0.2077;Gene=TGFA/NM_001308158.1/0;CC=c.233+191G>A;VC=Intron;Gene=TGFA/NM_001308159.1/0;CC=c.230+191G>A;VC=Intron;Gene=TGFA/NM_001099691.2/0;CC=c.212+191G>A;VC=Intron;Gene=TGFA/NM_003236.3/1;CC=c.215+191G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:13:0:0:6,7:203,191:0.00,18.53:0.00,18.53:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:33.2,54.6:0,0:0,0:23,97:128,54:14,19:-,NM_003236.3(TGFA) c.215+191G>A:-,0.23:-,NOT_FOUND 2 70692869 . C . . NT END=70741990;NT GT ./. 2 70739022 . TACAC T 12 rn VT=DEL;SST=Single;DP=5;NP=6;Gene=TGFA/NM_001308158.1/0;CC=c.112+2965_112+2968delGTGT;VC=Intron;Gene=TGFA/NM_001308159.1/0;CC=c.112+2965_112+2968delGTGT;VC=Intron;Gene=TGFA/NM_001099691.2/0;CC=c.94+2965_94+2968delGTGT;VC=Intron;Gene=TGFA/NM_003236.3/1;CC=c.94+2965_94+2968delGTGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TACAC,T:5:4:0:4:1,4:34,116:0.00,12.42:0.00,10.14:0.00,2.28:0.00,0.96:0.00,1.00:0.00,0.87:60,60:0.0,16.8:0,0:0,0:119,29:31,122:0,5:-,NM_003236.3(TGFA) c.94+2965_94+2968delGTGT:-,NOT_FOUND:-,NOT_FOUND 2 70742045 . C . . NT END=70780315;NT GT ./. 2 70780771 . G . . NT END=70780859;NT GT ./. 2 70780900 . T . . NT END=70890556;NT GT ./. 2 70795939 rs566098520 AGT A 19 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=AGT/0.5367,A/0.4633;DB;DBA=NA;PAF=AGT/0.5367,A/0.4633;NP=57;PC=0.010;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:AGT,A:10:7:0:8:4,6:98,251:0.00,18.57:0.00,11.28:0.00,7.29:0.00,0.98:0.00,0.99:0.00,0.87:60,70:46.5,22.0:0,2:0,0:102,51:39,99:22,27:-,chr2 g.70795940_70795941delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 70890868 . C . . NT END=70900009;NT GT ./. 2 70900139 . C . . NT END=70900372;NT GT ./. 2 70900459 . C . . NT END=70901809;NT GT ./. 2 70901958 . C . . NT END=70902215;NT GT ./. 2 70903319 rs11677026 G C 449 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=G/0.9385,C/0.0615;PC=0.225;Gene=ADD2/NM_001185054.1/0;CC=c.1593+609C>G;VC=Intron;Gene=ADD2/NM_001617.3/1;CC=c.1593+609C>G;VC=Intron;Gene=ADD2/NM_017488.3/0;CC=c.1593+609C>G;VC=Intron;Gene=ADD2/NM_001185055.1/0;CC=c.*522C>G;VC=3UTR;Gene=ADD2/NM_017482.3/0;CC=c.*522C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:121:62:0:0:121:3913:448.89:174.83:274.06:1.00:1.00:1.00:60:41.7:0:0:74:76:41:NM_001617.3(ADD2) c.1593+609C>G,NM_001617.3(ADD2) c.1593+609C>G:0.06,0.06:NOT_FOUND,NOT_FOUND 2 70904018 . C . . NT END=70904889;NT GT ./. 2 70905010 . C . . NT END=70905835;NT GT ./. 2 70905099 rs2902577 T G 193 nt VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.347,G/0.653;Gene=ADD2/NM_001185054.1/0;CC=c.1384-90A>C;VC=Intron;Gene=ADD2/NM_001617.3/1;CC=c.1384-90A>C;VC=Intron;Gene=ADD2/NM_017488.3/0;CC=c.1384-90A>C;VC=Intron;Gene=ADD2/NM_001185055.1/0;CC=c.1432-90A>C;VC=Intron;Gene=ADD2/NM_017482.3/0;CC=c.1384-90A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:G:52:25:0:0:52:1685:193.15:59.61:133.54:1.00:1.00:1.00:60:42.1:0:0:106:44:19:NM_001617.3(ADD2) c.1384-90A>C,NM_001617.3(ADD2) c.1384-90A>C:0.66,0.66:NOT_FOUND,NOT_FOUND 2 70906094 . C . . NT END=70910722;NT GT ./. 2 70910900 . C . . NT END=70915155;NT GT ./. 2 70915255 . C . . NT END=70917917;NT GT ./. 2 70917812 rs10084293 C T 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.2598,T/0.7402;Gene=ADD2/NM_001185054.1/0;CC=c.849+106G>A;VC=Intron;Gene=ADD2/NM_001617.3/1;CC=c.849+106G>A;VC=Intron;Gene=ADD2/NM_017488.3/0;CC=c.849+106G>A;VC=Intron;Gene=ADD2/NM_001185055.1/0;CC=c.897+106G>A;VC=Intron;Gene=ADD2/NM_017482.3/0;CC=c.849+106G>A;VC=Intron;DM=ADD2/Aldolase_II GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:T:35:34:0:1:35:1118:128.46:114.99:13.47:1.00:1.00:1.00:60:41.9:0:0:36:115:24:NM_001617.3(ADD2) c.849+106G>A,NM_001617.3(ADD2) c.849+106G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 70918062 . C . . NT END=70919534;NT GT ./. 2 70919685 . C . . NT END=70922852;NT GT ./. 2 70922934 . C . . NT END=70923376;NT GT ./. 2 70923529 . C . . NT END=70931452;NT GT ./. 2 70931400 . A C 8 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;Gene=ADD2/NM_001185054.1/0;CC=c.322+53T>G;VC=Intron;Gene=ADD2/NM_001617.3/1;CC=c.322+53T>G;VC=Intron;Gene=ADD2/NM_017488.3/0;CC=c.322+53T>G;VC=Intron;Gene=ADD2/NM_001185055.1/0;CC=c.370+53T>G;VC=Intron;Gene=ADD2/NM_017482.3/0;CC=c.322+53T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,C:46:20:0:0:38,8:940,134:0.00,8.12:0.00,6.64:0.00,1.48:0.00,0.97:0.00,0.94:0.00,0.99:60,60:16.1,53.6:0,0:0,0:21,118:125,19:17,22:-,NM_001617.3(ADD2) c.322+53T>G:-,NOT_FOUND:-,NOT_FOUND 2 70931592 . C . . NT END=70933357;NT GT ./. 2 70933575 . C . . NT END=70940197;NT GT ./. 2 70933659 rs11682965 T A 143 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.8183,A/0.1817,C/.;Gene=ADD2/NM_001185054.1/0;CC=c.-34-85A>T;VC=Intron;Gene=ADD2/NM_001617.3/1;CC=c.-34-85A>T;VC=Intron;Gene=ADD2/NM_017488.3/0;CC=c.-34-85A>T;VC=Intron;Gene=ADD2/NM_001185055.1/0;CC=c.15-85A>T;VC=Intron;Gene=ADD2/NM_017482.3/0;CC=c.-34-85A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:5:0:0:41:1241:143.47:13.57:129.90:1.00:1.00:1.00:60:43.6:0:0:115:36:22:NM_001617.3(ADD2) c.-34-85A>T,NM_001617.3(ADD2) c.-34-85A>T:0.19,0.19:NOT_FOUND,NOT_FOUND 2 70940317 . C . . NT END=70994735;NT GT ./. 2 70940481 rs3771451 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6312,G/0.3688;PC=0.001;Gene=ADD2/NM_001185054.1/0;CC=c.-153-165T>C;VC=Intron;Gene=ADD2/NM_001617.3/1;CC=c.-153-165T>C;VC=Intron;Gene=ADD2/NM_017488.3/0;CC=c.-153-165T>C;VC=Intron;Gene=ADD2/NM_001185055.1/0;CC=c.15-6907T>C;VC=Intron;Gene=ADD2/NM_017482.3/0;CC=c.-153-165T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:A,G:11:0:0:0:6,5:188,173:0.00,16.39:0.00,0.00:0.00,16.39:0.00,0.93:0.00,0.00:0.00,0.93:60,60:2.8,34.6:0,0:0,0:126,56:24,94:5,19:-,NM_001617.3(ADD2) c.-153-165T>C:-,NOT_FOUND:-,NOT_FOUND 2 70994848 . A . . NT END=70995017;NT GT ./. 2 70995075 . T . . NT END=71004498;NT GT ./. 2 70995233 rs2287099 G A 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7029,A/0.2971;PC=0.005;Gene=ADD2/NM_001617.3/1;CC=c.-369C>T;VC=5UTR;Gene=ADD2/NM_017488.3/0;CC=c.-369C>T;VC=5UTR;Gene=ADD2/NM_001185055.1/0;CC=c.-202C>T;VC=5UTR;Gene=ADD2/NM_017482.3/0;CC=c.-369C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:2:0:0:11,12:307,400:29.01,0.00:3.22,0.00:25.80,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:36.5,9.8:0,0:0,0:45,122:106,26:42,14:NM_001617.3(ADD2) c.-369C>T,-:0.28,-:NOT_FOUND,- 2 71004368 rs4533493 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.2708,G/0.7292;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:18:18:0:1:14,4:475,92:0.00,6.97:0.00,6.97:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:8.2,51.8:0,0:0,0:69,75:81,75:50,39:-,chr2 g.71004367A>G (intergenic):-,0.72:-,NOT_FOUND 2 71004413 . CA C 15 idl,rn VT=DEL;SST=Single;DP=21;NP=2;PC=0.001;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:CA,I,C:19:19:6:5:10,4,5:301,198,169:0.00,11.32,15.00:0.00,11.49,15.23:0.00,-0.18,-0.23:0.00,0.00,0.85:0.00,0.00,0.98:0.00,0.00,0.52:60,60,60:31.3,95.8,1.8:0,2,0:0,0,0:47,27,53:87,123,93:36,17,13:-,chr2 g.71004414delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 71004492 rs56316086 T C 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.6735,C/0.3265;PC=0.950;Gene=FIGLA/NM_001004311.3/1;CC=c.*7A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:33:0:0:11,33:352,1031:29.72,0.00:17.37,0.00:12.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:82.3,9.2:0,0:0,0:88,54:62,72:22,26:NM_001004311.3(FIGLA) c.*7A>G,-:0.31,-:NOT_FOUND,- 2 71004494 rs56135050 A T 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6735,C/.,T/0.3265;PC=0.979;Gene=FIGLA/NM_001004311.3/1;CC=c.*5T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:33:0:0:33,11:1075,386:0.00,33.11:0.00,20.31:0.00,12.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,82.3:0,0:0,0:56,90:72,60:26,22:-,NM_001004311.3(FIGLA) c.*5T>A:-,0.32:-,NOT_FOUND 2 71004515 . C . . NT END=71004768;NT GT ./. 2 71004804 . c . . NT END=71012546;NT GT ./. 2 71012604 rs7566541 G A 118 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.2023,A/0.7977;Gene=FIGLA/NM_001004311.3/1;CC=c.552C>T;ProtCh=p.H184=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:95:82:0:0:39,56:1275,1798:118.16,0.00:82.99,0.00:35.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,3.3:0,0:0,0:43,51:106,94:22,28:NM_001004311.3(FIGLA) c.552C>T (p.(=)),-:0.78,-:0.675008,- 2 71012734 rs7566476 C G 104 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.237,G/0.763;PC=0.311;Gene=FIGLA/NM_001004311.3/1;CC=c.422G>C;ProtCh=p.S141T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:77:31:0:0:43,34:1415,1106:0.00,103.85:0.00,21.16:0.00,82.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,44.4:0,0:0,0:77,89:72,59:38,41:-,NM_001004311.3(FIGLA) c.422G>C (p.Ser141Thr):-,0.75:-,0.626685 2 71012772 . C . . NT END=71014780;NT GT ./. 2 71012946 rs7566700 C A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.3728,A/0.6272;Gene=FIGLA/NM_001004311.3/1;CC=c.385-175G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:13:0:0:0:7,6:200,202:19.42,0.00:0.00,0.00:19.42,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:34.9,14.5:0,0:0,0:111,141:40,9:22,7:NM_001004311.3(FIGLA) c.385-175G>T,-:0.61,-:NOT_FOUND,- 2 71014934 . C . . NT END=71017539;NT GT ./. 2 71017516 rs12713717 A G 150 nt VT=SNV;PN=G;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.5789,G/0.4211;Gene=FIGLA/NM_001004311.3/1;CC=c.231+24T>C;VC=Intron;DM=FIGLA/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:102:92:0:0:52,49,1:1635,1566,10:0.00,149.58,-0.13:0.00,104.68,-0.06:0.00,44.90,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.3,41.0,87.0:0,0,0:0,0,0:53,54,105:90,96,46:28,28,0:-,NM_001004311.3(FIGLA) c.231+24T>C:-,0.4:-,0.198001 2 71017771 . G . . NT END=71036228;NT GT ./. 2 71018092 rs13029619 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6723,A/0.3277 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,G:5:0:0:0:4,1:128,30:13.62,0.00:0.00,0.00:13.62,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:32.0,12.0:0,0:0,0:130,58:19,92:5,0:NM_001004311.3(FIGLA) c.-5-u317C>T,-:0.32,-:NOT_FOUND,- 2 71036189 . CA C 57 nt VT=DEL;SST=Single;DP=40;NP=171;PC=0.378;Gene=CLEC4F/NM_001258027.1/0;CC=c.*136delT;VC=3UTR;Gene=CLEC4F/NM_173535.2/1;CC=c.*213delT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:40:36:0:20:20,20:629,599:0.00,57.41:0.00,35.18:0.00,22.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,8.7:0,0:0,0:37,49:112,100:22,27:-,NM_173535.2(CLEC4F) c.*213delT:-,0.18:-,NOT_FOUND 2 71036515 . C . . NT END=71036870;NT GT ./. 2 71036758 . TCA T 25 nt VT=DEL;SST=Single;DP=17;NP=2603;Gene=CLEC4F/NM_001258027.1/0;CC=c.1658+111_1658+112delTG;VC=Intron;Gene=CLEC4F/NM_173535.2/1;CC=c.1658+111_1658+112delTG;VC=Intron;DM=CLEC4F/Lectin_C;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCA,T:17:16:0:8:9,8:268,258:0.00,24.53:0.00,24.80:0.00,-0.28:0.00,0.99:0.00,1.00:0.00,0.65:60,60:11.2,1.2:0,0:0,0:69,63:82,87:20,24:-,NM_173535.2(CLEC4F) c.1658+111_1658+112delTG:-,0.59:-,NOT_FOUND 2 71036990 . C . . NT END=71039578;NT GT ./. 2 71038565 rs17656058 C T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8199,T/0.1801;PC=1.000;Gene=CLEC4F/NM_001258027.1/0;CC=c.1539+1014G>A;VC=Intron;Gene=CLEC4F/NM_173535.2/1;CC=c.1539+1014G>A;VC=Intron;DM=CLEC4F/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,T:14:2:0:0:8,6:236,166:0.00,15.28:0.00,-0.36:0.00,15.65:0.00,0.96:0.00,0.73:0.00,1.00:60,60:19.1,29.8:0,0:0,0:104,91:46,58:18,17:-,NM_173535.2(CLEC4F) c.1539+1014G>A:-,0.18:-,NOT_FOUND 2 71039731 . C . . NT END=71043125;NT GT ./. 2 71044211 rs2075221 C T 97 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.6695,G/.,T/0.3305;PC=0.678;Gene=CLEC4F/NM_001258027.1/0;CC=c.302G>A;ProtCh=p.R101Q;VC=Missense;Gene=CLEC4F/NM_173535.2/1;CC=c.302G>A;ProtCh=p.R101Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:45:0:0:52,33:1626,1055:0.00,96.61:0.00,23.74:0.00,72.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,38.8:0,0:0,0:79,85:67,64:39,19:-,NM_173535.2(CLEC4F) c.302G>A (p.Arg101Gln):-,0.35:-,0.275104 2 71044245 . C . . NT END=71046486;NT GT ./. 2 71046299 rs35483718 T C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6382,C/0.3618;Gene=CLEC4F/NM_001258027.1/0;CC=c.268+188A>G;VC=Intron;Gene=CLEC4F/NM_173535.2/1;CC=c.268+188A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,T:11:11:0:0:5,6:115,182:10.55,0.00:10.55,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:47.6,17.3:0,0:0,0:50,34:98,117:35,10:NM_173535.2(CLEC4F) c.268+188A>G,-:0.38,-:NOT_FOUND,- 2 71046577 . C . . NT END=71046906;NT GT ./. 2 71047024 . C . . NT END=71047594;NT GT ./. 2 71047656 . C . . NT END=71058180;NT GT ./. 2 71057892 rs2110980 A G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.0611,G/0.9389;Gene=CD207/NM_015717.4/1;CC=c.*289T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:44.2:0:0:97:54:13:NM_015717.3(CD207) c.*289T>C,NM_015717.3(CD207) c.*289T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 71058184 rs13421115 C T 81 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.8379,T/0.1621;Gene=CD207/NM_015717.4/1;CC=c.984G>A;ProtCh=p.P328=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:40:0:0:27,26:843,844:0.00,80.85:0.00,52.96:0.00,27.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,42.1:0,0:0,0:63,69:88,81:31,35:-,NM_015717.3(CD207) c.984G>A (p.(=)):-,0.17:-,0.254889 2 71058332 . C . . NT END=71058831;NT GT ./. 2 71058835 rs741326 A G 61 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.4547,C/.,G/0.5453;Gene=CD207/NM_015717.4/1;CC=c.833T>C;ProtCh=p.V278A;VC=Missense;DM=CD207/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:41:0:0:28,20:901,658:0.00,61.18:0.00,34.42:0.00,26.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,37.5:0,0:0,0:33,36:117,113:19,26:-,NM_015717.3(CD207) c.=:-,0.54:-,0.437219 2 71058951 . C . . NT END=71060030;NT GT ./. 2 71060183 . C . . NT END=71060776;NT GT ./. 2 71060936 rs17718987 G C 183 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.8678,C/0.1322;PC=0.001;Gene=CD207/NM_015717.4/1;CC=c.406C>G;ProtCh=p.Q136E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:122:82:0:0:57,65:1922,2157:182.80,0.00:98.32,0.00:84.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,10.8:0,0:0,0:71,71:75,74:31,31:NM_015717.3(CD207) c.406C>G (p.Gln136Glu),-:0.15,-:0.231053,- 2 71061152 . C . . NT END=71062621;NT GT ./. 2 71062648 rs10489990 G A 80 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.7157,A/0.2843;PC=0.697;Gene=CD207/NM_015717.4/1;CC=c.164C>T;ProtCh=p.A55V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:66:58:0:0:28,37,1:856,1215,18:79.62,0.00,0.33:58.15,0.00,0.42:21.47,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.2,5.8,56.0:0,0,0:0,0,0:50,59,103:84,91,48:29,28,0:NM_015717.3(CD207) c.164C>T (p.Ala55Val),-:0.3,-:0.283191,- 2 71062741 . G . . NT END=71062835;NT GT ./. 2 71062833 . G GC 373 nt VT=INS;SST=Single;DP=103;NP=3405;PC=1.000;Gene=CD207/NM_015717.4/1;CC=c.73dupG;ProtCh=p.E25Gfs*70;VC=FrameShiftIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,GC:103:69:102:0:1,102:31,3267:0.00,372.89:0.00,179.33:0.00,193.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,7.6:0,0:0,0:148,65:3,86:0,32:NM_015717.3(CD207) c.71+2_71+3insG,NM_015717.3(CD207) c.71+2_71+3insG:1,1:0.999755,0.999755 2 71062907 . C . . NT END=71127751;NT GT ./. 2 71091557 rs144364594 AACACAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=21;PC=0.005;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AACACAC,A:3:4:0:4:1,2:33,95:0.00,6.65:0.00,5.11:0.00,1.54:0.00,0.51:0.00,0.51:0.00,0.79:9,60:0.0,14.5:0,1:0,0:23,37:41,106:0,7:-,chr2 g.71091558_71091563delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 71115583 rs78918380 G GACACACACACACACAC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4607,GAC/.,GACACAC/.,GACACACAC/0.5393,GACACACACAC/.,GACACACACACACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=5;Gene=LINC01143/NR_126384.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,GACACACACACACACAC:3:2:3:0:1,2:30,101:0.00,6.75:0.00,-0.30:0.00,7.05:0.00,0.51:0.00,0.79:0.00,0.79:60,60:6.0,0.0:0,1:0,0:101,73:29,78:0,13:-,chr2 g.71115583_71115584insACACACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 71127607 rs13004912 G A 88 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.8245,A/0.1755;PC=0.125 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:37:0:0:27,14:864,395:87.93,0.00:77.41,0.00:10.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,15.1:0,0:0,0:36,62:115,88:26,43:NM_012476.2(VAX2) c.-32-u113G>A,-:0.22,-:NOT_FOUND,- 2 71127999 . G . . NT END=71148227;NT GT ./. 2 71148045 rs7564382 C T 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.1773,T/0.8227;Gene=VAX2/NM_012476.2/1;CC=c.248-183C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:14,10:442,320:0.00,29.71:0.00,29.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.8,33.7:0,0:0,0:32,23:116,127:21,21:-,NM_012476.2(VAX2) c.248-183C>T:-,0.81:-,NOT_FOUND 2 71148416 . G . . NT END=71159896;NT GT ./. 2 71148686 rs887885 A G 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1739,G/0.8261;Gene=VAX2/NM_012476.2/1;CC=c.435+271A>G;VC=Intron;DM=VAX2/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,G:7:0:0:0:1,6:32,202:0.00,21.82:0.00,0.00:0.00,21.82:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.0,33.7:0,0:0,0:132,118:18,32:0,30:-,NM_012476.2(VAX2) c.435+271A>G:-,0.81:-,NOT_FOUND 2 71160335 . G . . NT END=71163084;NT GT ./. 2 71162930 rs55655347 A G 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8259,G/0.1741;PC=0.845 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,G:11:11:0:0:3,8:80,241:0.00,25.10:0.00,25.10:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:106.0,57.1:0,0:0,0:58,10:93,139:9,10:-,NM_001692.3(ATP6V1B1) c.-87-u68A>G:-,0.23:-,NOT_FOUND 2 71162996 rs11685700 A G 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4696,G/0.5304 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:8,10:241,277:0.00,26.99:0.00,25.28:0.00,1.71:0.00,1.00:0.00,1.00:0.00,0.70:60,60:42.8,68.1:0,0:0,0:38,54:111,96:25,19:-,NM_001692.3(ATP6V1B1) c.-87-u2A>G:-,0.56:-,NOT_FOUND 2 71163086 rs11681642 T C 110 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=in-clinvar;PAF=T/0.6312,C/0.3688;PC=1.000;Gene=ATP6V1B1/NM_001692.3/1;CC=c.2T>C;ProtCh=p.M1?;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:52:0:0:34,26:1116,835:110.00,0.00:79.32,0.00:30.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.1,7.3:0,0:0,0:46,40:105,101:25,29:NM_001692.3(ATP6V1B1) c.2T>C (p.0?),-:0.39,-:0.415039,- 2 71163203 . G . . NT END=71165695;NT GT ./. 2 71163225 rs759219 C T 85 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.6222,T/0.3778;Gene=ATP6V1B1/NM_001692.3/1;CC=c.118+23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:25:0:0:20,27:621,856:0.00,84.51:0.00,29.02:0.00,55.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,56.1:0,0:0,0:113,108:31,28:21,24:-,NM_001692.3(ATP6V1B1) c.118+23C>T:-,0.4:-,0.422113 2 71165902 . G . . NT END=71167543;NT GT ./. 2 71168025 . t . . NT END=71168427;NT GT ./. 2 71168037 . CTTTTTCT C 15 idl,nt VT=DEL;SST=Single;DP=49;NP=8;Gene=ATP6V1B1/NM_001692.3/1;CC=c.119-2745_119-2739delCTTTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,CTTTTTCT,T,C:47:11:0:11:1,37,3,6:11,1034,40,258:-0.10,0.00,1.10,15.00:-0.09,0.00,-0.27,-0.56:-0.01,0.00,1.37,15.57:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.98:60,60,60,60:157.0,38.2,131.7,9.8:0,4,0,2:0,0,0,0:83,131,114,88:68,18,32,62:0,13,13,21:-,NM_001692.3(ATP6V1B1) c.119-2750_119-2744delTTTTTCT:-,NOT_FOUND:-,NOT_FOUND 2 71168042 . TC T 9 idl,nt VT=DEL;SST=Single;DP=37;NP=2;Gene=ATP6V1B1/NM_001692.3/1;CC=c.119-2745delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,TC,T:37:9:0:15:2,31,4:23,985,122:0.24,0.00,8.71:-0.19,0.00,-0.40:0.43,0.00,9.10:0.00,0.00,0.60:0.00,0.00,0.58:0.00,0.00,0.91:60,60,60:86.0,52.7,24.5:0,5,0:0,0,0:134,130,112:14,14,38:15,17,13:-,NM_001692.3(ATP6V1B1) c.119-2745delC:-,NOT_FOUND:-,NOT_FOUND 2 71168043 rs112148769 C T 96 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=186;Gene=ATP6V1B1/NM_001692.3/1;CC=c.119-2745C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,T,D:31:9:0:17:2,28,1:64,861,58:0.00,95.96,1.55:0.00,27.80,0.00:0.00,68.16,1.55:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:26.5,61.4,33.0:0,3,1:0,0,0:124,132,11:26,13,134:19,13,7:NM_001692.3(ATP6V1B1) c.119-2745C>T,NM_001692.3(ATP6V1B1) c.119-2745C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 71168555 . t . . NT END=71168879;NT GT ./. 2 71168881 rs3771385 G A 124 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.4465,A/0.5535;Gene=ATP6V1B1/NM_001692.3/1;CC=c.119-1907G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:93:89:0:0:41,51,1:1318,1693,12:123.88,0.00,-0.08:100.70,0.00,-0.03:23.19,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.9,2.3,109.0:0,0,0:0,0,0:59,54,105:73,94,46:35,30,0:NM_001692.3(ATP6V1B1) c.119-1907G>A,-:0.52,-:NOT_FOUND,- 2 71169082 . G . . NT END=71170787;NT GT ./. 2 71169280 rs67965081 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9393,T/0.0607;Gene=ATP6V1B1/NM_001692.3/1;CC=c.119-1508C>T;VC=Intron;Gene=ATP6V1B1-AS1/NR_110273.1/0;VC=NonCoding;Gene=ATP6V1B1-AS1/NR_110274.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:8,6:235,199:0.00,18.61:0.00,0.00:0.00,18.61:0.00,0.96:0.00,0.00:0.00,0.96:60,60:22.5,45.7:0,0:0,0:109,72:41,78:13,35:-,NM_001692.3(ATP6V1B1) c.119-1508C>T:-,0.08:-,NOT_FOUND 2 71170844 . G . . NT END=71171141;NT GT ./. 2 71171360 . G . . NT END=71185175;NT GT ./. 2 71185275 . G . . NT END=71185462;NT GT ./. 2 71185557 . G . . NT END=71186147;NT GT ./. 2 71186226 . G . . NT END=71187068;NT GT ./. 2 71187209 . G . . NT END=71188050;NT GT ./. 2 71188153 . G . . NT END=71188725;NT GT ./. 2 71188824 . G . . NT END=71189906;NT GT ./. 2 71190031 . G . . NT END=71190291;NT GT ./. 2 71190443 . G . . NT END=71190701;NT GT ./. 2 71190785 . G . . NT END=71191567;NT GT ./. 2 71191673 . G . . NT END=71191865;NT GT ./. 2 71191996 . G . . NT END=71192087;NT GT ./. 2 71192252 . C . . NT END=71205775;NT GT ./. 2 71205946 . G . . NT END=71206226;NT GT ./. 2 71205976 rs1115049 A G 379 nt VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=A/0.3904,G/0.6096;PC=0.002;Gene=ANKRD53/NM_001115116.1/0;CC=c.170+31A>G;VC=Intron;Gene=ANKRD53/NM_024933.3/1;CC=c.170+31A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:109:65:0:0:1,108:11,3296:0.00,378.90:0.00,152.30:0.00,226.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:69.0,48.6:0,0:0,0:115,91:36,57:0,29:NM_001115116.1(ANKRD53) c.170+31A>G,NM_001115116.1(ANKRD53) c.170+31A>G:0.58,0.58:0.622488,0.622488 2 71206058 rs1115050 A C 226 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.3279,C/0.6721;Gene=ANKRD53/NM_001115116.1/0;CC=c.170+113A>C;VC=Intron;Gene=ANKRD53/NM_024933.3/1;CC=c.170+113A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:171:C,G,T:67:37:0:0:65,1,1:1962,13,11:225.99,0.26,0.18:126.62,0.00,0.00:99.37,0.26,0.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.3,35.0,50.0:0,0,0:0,0,0:90,20,81:59,131,70:35,0,0:NM_001115116.1(ANKRD53) c.170+113A>C,NM_001115116.1(ANKRD53) c.170+113A>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 71206474 . G . . NT END=71206790;NT GT ./. 2 71206626 rs3771383 G T 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.8604,T/0.1396;PC=0.002;Gene=ANKRD53/NM_001115116.1/0;CC=c.417+153G>T;VC=Intron;Gene=ANKRD53/NM_024933.3/1;CC=c.417+153G>T;VC=Intron;DM=ANKRD53/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:43:15:0:0:23,20:707,552:0.00,51.76:0.00,13.57:0.00,38.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,47.4:0,0:0,0:78,103:63,47:36,29:-,NM_001115116.1(ANKRD53) c.417+153G>T:-,0.15:-,NOT_FOUND 2 71206991 . G . . NT END=71209065;NT GT ./. 2 71208844 rs10209944 A G 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3245,G/0.6755;Gene=ANKRD53/NM_001115116.1/0;CC=c.618-222A>G;VC=Intron;Gene=ANKRD53/NM_024933.3/1;CC=c.618-222A>G;VC=Intron;DM=ANKRD53/Ank_2;DM=ANKRD53/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:429:49.50:49.50:0.00:1.00:1.00:0.00:60:46.4:0:0:41:109:31:NM_001115116.1(ANKRD53) c.618-222A>G,NM_001115116.1(ANKRD53) c.618-222A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 71209231 . G . . NT END=71209706;NT GT ./. 2 71209828 . G . . NT END=71211252;NT GT ./. 2 71211417 rs72832792 C G 128 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.8532,G/0.1468;Gene=ANKRD53/NM_001115116.1/0;CC=c.904-324C>G;VC=Intron;Gene=ANKRD53/NM_024933.3/1;CC=c.1030+38C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:91:62:0:0:50,41:1600,1352:0.00,127.57:0.00,70.24:0.00,57.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,39.7:0,0:0,0:49,65:96,75:34,31:-,NM_001115116.1(ANKRD53) c.904-324C>G:-,0.17:-,0.191296 2 71211732 . T . . NT END=71211740;NT GT ./. 2 71211815 rs3796098 G A 272 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=175;DB;DBA=NA;PAF=G/0.8652,A/0.1348,C/.;Gene=ANKRD53/NM_001115116.1/0;CC=c.978G>A;ProtCh=p.L326=;VC=Silent;Gene=ANKRD53/NM_024933.3/1;CC=c.*73G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:175:119:0:0:88,87:2828,2884:271.88,0.00:126.74,0.00:145.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,6.7:0,0:0,0:59,60:86,89:29,28:NM_001115116.1(ANKRD53) c.978G>A (p.(=)),-:0.17,-:0.183092,- 2 71211989 rs3796099 A G 788 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=220;DB;DBA=NA;PAF=A/0.3267,C/.,G/0.6733;Gene=ANKRD53/NM_001115116.1/0;CC=c.1152A>G;ProtCh=p.T384=;VC=Silent;Gene=ANKRD53/NM_024933.3/1;CC=c.*247A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:220:162:0:0:1,219:10,6851:0.05,788.49:0.00,426.96:0.05,361.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:97.0,45.9:0,0:0,0:83,52:66,96:0,28:NM_001115116.1(ANKRD53) c.1152A>G (p.(=)),NM_001115116.1(ANKRD53) c.1152A>G (p.(=)):0.64,0.64:0.680902,0.680902 2 71212129 rs3796100 A T 296 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=197;DB;DBA=NA;PAF=A/0.863,T/0.137;Gene=ANKRD53/NM_001115116.1/0;CC=c.1292A>T;ProtCh=p.H431L;VC=Missense;Gene=ANKRD53/NM_024933.3/1;CC=c.*387A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:197:110:0:0:99,1,97:3171,11,3084:0.00,-0.15,295.58:0.00,-0.08,123.60:0.00,-0.06,171.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.7,83.0,46.6:0,0,0:0,0,0:87,139,81:55,12,64:33,0,37:-,NM_001115116.1(ANKRD53) c.1292A>T (p.His431Leu):-,0.17:-,0.171599 2 71212405 rs61732279 T C 149 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.8518,C/0.1482;Gene=ANKRD53/NM_001115116.1/0;CC=c.1568T>C;ProtCh=p.L523P;VC=Missense;Gene=ANKRD53/NM_024933.3/1;CC=c.*663T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:100:40:0:0:54,46:1537,1442:149.31,0.00:30.68,0.00:118.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,12.3:0,0:0,0:82,105:63,43:27,25:NM_001115116.1(ANKRD53) c.1568T>C (p.Leu523Pro),-:0.17,-:0.180464,- 2 71212431 . A . . NT END=71215729;NT GT ./. 2 71212621 rs71400969 A AC 10 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;Gene=ANKRD53/NM_001115116.1/0;CC=c.*198dupC;VC=3UTR;Gene=ANKRD53/NM_024933.3/1;CC=c.*886dupC;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,AC,D:10:0:4:1:5,4,1:129,112,30:0.00,10.42,2.25:0.00,0.00,0.00:0.00,10.42,2.25:0.00,0.84,0.00:0.00,0.00,0.00:0.00,0.84,0.00:60,60,60:6.6,20.2,0.0:0,0,0:0,0,0:137,124,63:14,26,88:11,9,0:-,NM_001115116.1(ANKRD53) c.*198dupC:-,NOT_FOUND:-,NOT_FOUND 2 71215617 rs4852735 A G 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.613,C/.,G/0.387,T/.;PC=0.056;Gene=TEX261/NM_144582.2/1;CC=c.*113T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G:12:12:0:0:3,9:98,316:0.00,32.96:0.00,32.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,40.2:0,0:0,0:26,54:125,97:1,21:-,NM_144582.2(TEX261) c.*113T>C:-,0.38:-,NOT_FOUND 2 71215846 . C . . NT END=71216044;NT GT ./. 2 71216148 . C . . NT END=71216878;NT GT ./. 2 71216246 rs2286980 A C 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.8522,C/0.1478;PC=0.001;Gene=TEX261/NM_144582.2/1;CC=c.373-99T>G;VC=Intron;DM=TEX261/Erv26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:24:3:0:0:13,11:360,358:0.00,33.88:0.00,3.16:0.00,30.72:0.00,1.00:0.00,0.85:0.00,1.00:60,60:9.5,42.5:0,0:0,0:99,108:52,42:36,20:-,NM_144582.2(TEX261) c.373-99T>G:-,0.17:-,NOT_FOUND 2 71216947 . C . . NT END=71218959;NT GT ./. 2 71219114 . C . . NT END=71220825;NT GT ./. 2 71219276 rs201937951 A AT 12 idl,rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=16;Gene=TEX261/NM_144582.2/1;CC=c.151-164_151-163insA;VC=Intron;DM=TEX261/Erv26;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,T,AT,D:25:0:6:4:16,1,6,2:396,34,144,117:0.00,2.19,11.63,4.37:0.00,0.00,0.00,0.00:0.00,2.19,11.63,4.37:0.00,0.00,0.91,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.91,0.00:60,60,60,60:33.1,34.0,33.5,29.5:1,1,0,2:0,0,0,0:124,8,94,70:27,143,56,69:12,0,18,26:-,NM_144582.2(TEX261) c.151-164_151-163insA:-,NOT_FOUND:-,NOT_FOUND 2 71220793 rs2276684 T G 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8568,G/0.1432;Gene=TEX261/NM_144582.2/1;CC=c.150+33A>C;VC=Intron;DM=TEX261/Erv26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:18:17:0:0:10,8:321,245:31.52,0.00:27.07,0.00:4.45,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:32.1,2.4:0,0:0,0:27,18:123,127:20,11:NM_144582.2(TEX261) c.150+33A>C,-:0.17,-:0.187759,- 2 71220906 . C . . NT END=71221770;NT GT ./. 2 71221822 rs2302561 A G 77 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.636,G/0.364;PC=0.999;Gene=TEX261/NM_144582.2/1;CC=c.66T>C;ProtCh=p.A22=;VC=Silent;DM=TEX261/Erv26;DM=TEX261/Erv26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:54:36:0:0:26,1,27:855,11,799:0.00,-0.00,76.68:0.00,0.13,42.67:0.00,-0.13,34.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.4,110.0,36.9:0,0,0:0,0,0:58,54,81:87,97,70:27,0,29:-,NM_144582.2(TEX261) c.66T>C (p.(=)):-,0.36:-,0.378235 2 71221888 . G . . NT END=71295675;NT GT ./. 2 71264791 rs6718347 T C 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.154,C/0.846;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:514:59.03:59.03:0.00:1.00:1.00:0.00:60:75.4:0:0:54:91:23:chr2 g.71264790T>C (intergenic),chr2 g.71264790T>C (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 71264795 rs6718350 T G 58 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.003395,G/0.9966;NP=499;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:A,G:17:17:0:0:1,16:7,511:0.22,58.29:0.22,58.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:136.0,68.5:0,0:0,0:63,50:57,101:0,31:chr2 g.71264794T>G (intergenic),chr2 g.71264794T>G (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 71264949 rs6718523 T C 213 nt VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.143,C/0.857 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:48:0:0:55:1873:213.48:158.41:55.08:1.00:1.00:1.00:60:38.9:0:0:40:111:20:chr2 g.71264948T>C (intergenic),chr2 g.71264948T>C (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 2 71265187 rs9309445 G T 111 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.2031,T/0.7969 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:0:0:0:31:961:110.77:0.00:110.77:1.00:0.00:1.00:60:40.8:0:0:107:44:26:chr2 g.71265186G>T (intergenic),chr2 g.71265186G>T (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 2 71296192 . G . . NT END=71297631;NT GT ./. 2 71297717 . G . . NT END=71297870;NT GT ./. 2 71297970 . G . . NT END=71298815;NT GT ./. 2 71298958 . G . . NT END=71299770;NT GT ./. 2 71299882 . G . . NT END=71300611;NT GT ./. 2 71300725 . G . . NT END=71302684;NT GT ./. 2 71302773 . G . . NT END=71303733;NT GT ./. 2 71303832 . G . . NT END=71304687;NT GT ./. 2 71304538 rs147845543 C CT 12 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9537,CT/0.04633;NP=158;Gene=NAGK/NM_017567.4/1;CC=c.904-141dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,CT:9:9:4:0:5,4:156,131:0.00,12.32:0.00,12.32:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:13.0,30.0:0,0:0,0:15,47:136,102:15,20:-,NM_017567.4(NAGK) c.904-150_904-149insT:-,NOT_FOUND:-,NOT_FOUND 2 71304738 rs1043701 G A 99 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.9501,A/0.04992;PC=1.000;Gene=NAGK/NM_017567.4/1;CC=c.954G>A;ProtCh=p.V318=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:48:0:0:32,33:1028,1056:98.53,0.00:54.91,0.00:43.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,15.1:0,0:0,0:78,79:67,60:30,27:NM_017567.4(NAGK) c.954G>A (p.(=)),-:0.05,-:0.080655,- 2 71304767 . G . . NT END=71305447;NT GT ./. 2 71305456 rs6713 C T 98 lc VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.1701,T/0.8299;Gene=NAGK/NM_017567.4/1;CC=c.991C>T;ProtCh=p.L331=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:70:62:0:0:36,1,33:1207,13,1032:0.00,0.03,98.17:0.00,0.09,66.54:0.00,-0.06,31.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.9,84.0,41.8:0,0,0:0,0,0:49,68,63:88,83,88:33,0,26:-,NM_017567.4(NAGK) c.991C>T (p.(=)):-,0.82:-,0.736352 2 71305639 . G . . NT END=71337099;NT GT ./. 2 71337253 . C . . NT END=71351335;NT GT ./. 2 71337425 rs7564905 G A 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5811,A/0.4189;PC=0.004;Gene=MCEE/NM_032601.3/1;CC=c.379-173C>T;VC=Intron;DM=MCEE/Glyoxalase_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,G:12:1:0:0:7,5:205,150:20.25,0.00:-0.19,0.00:20.44,0.00:1.00,0.00:0.72,0.00:1.00,0.00:60,60:33.0,4.6:0,0:0,0:80,64:70,87:32,42:NM_032601.3(MCEE) c.379-173C>T,-:0.4,-:NOT_FOUND,- 2 71351403 rs6748672 C A 129 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.7985,A/0.2015,T/.;PC=0.658;Gene=MCEE/NM_032601.3/1;CC=c.311G>T;ProtCh=p.R104L;VC=Missense;DM=MCEE/Glyoxalase_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:91:75:0:0:41,48,1,1:1365,1554,13,17:129.40,0.00,-0.02,0.19:76.81,0.00,0.04,0.25:52.58,0.00,-0.06,-0.06:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:40.7,17.1,77.0,45.0:0,0,0,0:0,0,0,0:81,63,44,57:70,80,105,93:32,37,0,0:NM_032601.3(MCEE) c.311G>T (p.Arg104Leu),-:0.17,-:0.188528,- 2 71351487 rs11541017 G A 182 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.8175,A/0.1825;Gene=MCEE/NM_032601.3/1;CC=c.227C>T;ProtCh=p.A76V;VC=Missense;DM=MCEE/Glyoxalase_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:100:64:0:0:58,1,41:1834,11,1231:182.08,-0.05,0.00:98.31,-0.10,0.00:83.77,0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.4,23.0,20.5:0,0,0:0,0,0:65,62,62:81,88,87:35,0,30:NM_032601.3(MCEE) c.227C>T (p.Ala76Val),-:0.21,-:0.273643,- 2 71351674 . C . . NT END=71357309;NT GT ./. 2 71351833 rs397739698 T TA 29 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5341,TA/0.4659;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5341,TA/0.4659;NP=231;Gene=MCEE/NM_032601.3/1;CC=c.41-161dupT;VC=Intron;DM=MCEE/Glyoxalase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:T,TA:13:0:9:0:4,9:102,281:0.00,28.98:0.00,0.00:0.00,28.98:0.00,1.00:0.00,0.00:0.00,1.00:60,60:23.2,7.2:0,0:0,0:109,109:42,40:18,13:-,NM_032601.3(MCEE) c.41-161_41-160insT:-,0.49:-,NOT_FOUND 2 71357350 . T . . NT END=71357795;NT GT ./. 2 71357417 rs2012479 C A 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.5363,A/0.4637;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:45:26:0:0:26,19:783,599:77.36,0.00:31.59,0.00:45.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,8.7:0,0:0,0:103,117:36,33:18,17:NM_005791.2(MPHOSPH10) c.-352-u27C>A,-:0.49,-:0.609339,- 2 71357634 rs1813348 C T 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.5357,T/0.4643;PC=0.001;Gene=MPHOSPH10/NM_005791.2/1;CC=c.-162C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:22:19:0:0:10,1,11:317,9,341:0.00,0.08,33.04:0.00,0.08,23.91:0.00,0.00,9.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.89:60,60,60:2.3,113.0,42.3:0,0,0:0,0,0:60,85,76:91,66,75:19,0,43:-,NM_005791.2(MPHOSPH10) c.-162C>T:-,0.49:-,NOT_FOUND 2 71357885 . G . . NT END=71360027;NT GT ./. 2 71360282 rs13010513 G A 146 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.8089,A/0.1911;PC=0.137;Gene=MPHOSPH10/NM_005791.2/1;CC=c.344G>A;ProtCh=p.R115H;VC=Missense;DM=MPHOSPH10/Mpp10;DM=MPHOSPH10/Mpp10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:103:76:0:0:48,55:1540,1688:146.01,0.00:90.96,0.00:55.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,10.4:0,0:0,0:68,77:79,74:30,37:NM_005791.2(MPHOSPH10) c.344G>A (p.Arg115His),-:0.17,-:0.177764,- 2 71360707 . G . . NT END=71361077;NT GT ./. 2 71360723 rs1813159 A G 219 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.1118,G/0.8882;Gene=MPHOSPH10/NM_005791.2/1;CC=c.768+17A>G;VC=Intron;DM=MPHOSPH10/Mpp10;DM=MPHOSPH10/Mpp10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:G:60:27:0:0:60:1902:218.70:67.67:151.03:1.00:1.00:1.00:60:45.1:0:0:98:50:25:NM_005791.2(MPHOSPH10) c.768+17A>G,NM_005791.2(MPHOSPH10) c.768+17A>G:0.89,0.89:0.825348,0.825348 2 71360735 rs3070610 T TTCC 160 nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.1024,TTCC/0.8976,TTTC/.;DB;DBA=NA;PAF=T/0.1024,TTCC/0.8976;NP=844;PC=0.020;Gene=MPHOSPH10/NM_005791.2/1;CC=c.768+35_768+37dupCTC;VC=Intron;DM=MPHOSPH10/Mpp10;DM=MPHOSPH10/Mpp10;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:T,TTCC:57:21:47:0:10,47:286,1490:0.00,160.03:0.00,33.44:0.00,126.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:58.9,37.9:2,0:0,0:138,88:9,59:5,33:-,NM_005791.2(MPHOSPH10) c.768+29_768+30insTCC:-,0.85:-,0.817431 2 71361236 . G . . NT END=71361755;NT GT ./. 2 71361928 . G . . NT END=71365619;NT GT ./. 2 71365762 . G . . NT END=71366924;NT GT ./. 2 71366993 . G . . NT END=71368361;NT GT ./. 2 71368500 . G . . NT END=71371557;NT GT ./. 2 71371669 . G . . NT END=71375128;NT GT ./. 2 71375237 . G . . NT END=71376352;NT GT ./. 2 71376201 rs1458868 C T 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6214,T/0.3786;PC=0.005;Gene=MPHOSPH10/NM_005791.2/1;CC=c.1666-152C>T;VC=Intron;DM=MPHOSPH10/Mpp10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:G,T:25:25:0:0:1,24:19,687:1.02,79.63:1.02,79.63:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:144.0,40.3:0,0:0,0:54,36:97,114:0,18:NM_005791.2(MPHOSPH10) c.1666-152C>T,NM_005791.2(MPHOSPH10) c.1666-152C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 2 71376584 . G . . NT END=71376995;NT GT ./. 2 71376809 rs4852763 T C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8171,C/0.1829;Gene=MPHOSPH10/NM_005791.2/1;CC=c.1897-187T>C;VC=Intron;DM=MPHOSPH10/Mpp10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:14:0:0:8,9:239,312:22.60,0.00:12.85,0.00:9.75,0.00:0.99,0.00:1.00,0.00:0.86,0.00:60,60:46.8,44.7:0,0:0,0:65,57:85,94:20,13:NM_005791.2(MPHOSPH10) c.1897-187T>C,-:0.21,-:NOT_FOUND,- 2 71377146 . T . . NT END=71415608;NT GT ./. 2 71405578 rs383445 G A 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.2137,A/0.7863;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:275:32.10:32.10:0.00:1.00:1.00:0.00:60:64.1:0:0:33:117:20:chr2 g.71405577G>A (intergenic),chr2 g.71405577G>A (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 2 71415479 rs357780 T C 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.05671,C/0.9433;PC=0.888;Gene=PAIP2B/NM_020459.1/1;CC=c.*130A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:242:27.54:27.54:0.00:1.00:1.00:0.00:60:93.0:0:0:61:90:18:NM_020459.1(PAIP2B) c.*130A>G,NM_020459.1(PAIP2B) c.*130A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 71415666 . C . . NT END=71416974;NT GT ./. 2 71417065 rs357777 G T 317 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.04233,T/0.9577;PC=0.203;Gene=PAIP2B/NM_020459.1/1;CC=c.225C>A;ProtCh=p.P75=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:84:58:0:0:84:2768:316.81:163.55:153.25:1.00:1.00:1.00:60:37.7:0:0:56:93:33:NM_020459.1(PAIP2B) c.225C>A (p.(=)),NM_020459.1(PAIP2B) c.225C>A (p.(=)):0.95,0.95:0.923772,0.923772 2 71417152 . C . . NT END=71429581;NT GT ./. 2 71417375 rs357775 A G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.012;Gene=PAIP2B/NM_020459.1/1;CC=c.139-224T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G:8:1:0:0:2,6:60,197:0.00,20.61:0.00,-0.60:0.00,21.21:0.00,1.00:0.00,0.83:0.00,1.00:60,60:18.5,51.0:0,0:0,0:85,109:66,39:12,11:-,NM_020459.1(PAIP2B) c.139-224T>C:-,NOT_FOUND:-,NOT_FOUND 2 71428138 rs70959217 GGTGT G 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;PC=0.005;Gene=PAIP2B/NM_020459.1/1;CC=c.138+1440_138+1443delACAC;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GGTGT,G:4:4:0:3:1,3:32,92:0.00,9.65:0.00,8.18:0.00,1.48:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,31.3:0,0:0,0:93,53:25,97:0,1:-,NM_020459.1(PAIP2B) c.138+1440_138+1443delACAC:-,NOT_FOUND:-,NOT_FOUND 2 71428191 rs357762 T C,G 12 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1903,C/0.8097;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:C,G:4:4:0:0:3,1:107,12:11.76,1.08:7.80,1.08:3.95,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:44.7,24.0:0,0:0,0:60,102:83,8:11,0:NM_020459.1(PAIP2B) c.138+1391A>G,NM_020459.1(PAIP2B) c.138+1391A>C:0.82,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 71429687 rs13001756 C G 46 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.9429,G/0.05711,T/.;PC=0.998;Gene=PAIP2B/NM_020459.1/1;CC=c.33G>C;ProtCh=p.P11=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:43:26:0:0:27,16:810,511:0.00,46.40:0.00,20.74:0.00,25.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,48.4:0,0:0,0:85,84:56,65:44,18:-,NM_020459.1(PAIP2B) c.33G>C (p.(=)):-,0.06:-,0.071038 2 71429720 . T . . NT END=71503768;NT GT ./. 2 71429891 rs357761 C T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1903,T/0.8097;PC=0.002;Gene=PAIP2B/NM_020459.1/1;CC=c.-11-161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:226:25.94:0.00:25.94:1.00:0.00:1.00:60:32.3:0:0:122:29:7:NM_020459.1(PAIP2B) c.-11-161G>A,NM_020459.1(PAIP2B) c.-11-161G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 71503874 rs2542538 T C 140 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.8746,C/0.1254;PC=0.140 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:91:48:0:0:45,46:1460,1553:140.08,0.00:49.77,0.00:90.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,3.7:0,0:0,0:103,97:36,52:28,20:chr2 g.71503873T>C (intergenic),-:0.13,-:NOT_FOUND,- 2 71503885 . G . . NT END=71558884;NT GT ./. 2 71503978 rs59596777 T C 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.7458,C/0.2542 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:1:0:0:15,13:442,404:42.96,0.00:1.75,0.00:41.21,0.00:1.00,0.00:0.69,0.00:1.00,0.00:60,60:51.7,9.0:0,0:0,0:57,99:94,52:40,40:chr2 g.71503977T>C (intergenic),-:0.22,-:NOT_FOUND,- 2 71558734 rs57585232 G GT 44 idl,rn VT=INS;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:71:75:20:7:47,2,17,5:1562,18,619,225:0.00,-0.17,44.19,11.70:0.00,-0.13,41.60,11.81:0.00,-0.05,2.59,-0.12:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.86,0.00:60,60,60,60:27.2,121.0,37.1,8.2:0,0,3,2:0,0,0,0:48,105,29,29:103,39,105,122:34,16,22,10:-,NM_001252612.1(ZNF638) c.-639-u151_-639-u150insT:-,NOT_FOUND:-,NOT_FOUND 2 71558755 rs10665561 A AGG 258 nt VT=INS;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=311;PC=0.096;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A,G,AGG:87:82:82:0:2,3,82:26,88,2233:0.00,5.82,257.83:0.00,5.82,208.02:0.00,0.00,49.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:64.5,50.7,21.0:1,1,0:0,0,0:122,0,35:28,150,112:25,0,19:NM_001252612.1(ZNF638) c.-639-u130_-639-u129insGG,NM_001252612.1(ZNF638) c.-639-u130_-639-u129insGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 71558782 rs397801943 G GC 412 nt VT=INS;SST=Single;DP=124;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;PC=0.984;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,GC:124:109:119:0:4,1,119:126,7,3581:8.53,0.00,411.72:7.34,0.00,296.30:1.19,0.00,115.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:70.0,55.0,15.7:1,0,0:0,0,0:0,116,34:140,6,114:0,0,17:NM_001252612.1(ZNF638) c.-639-u103_-639-u102insC,NM_001252612.1(ZNF638) c.-639-u103_-639-u102insC:1,1:NOT_FOUND,NOT_FOUND 2 71558924 rs2257136 G T 831 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=222;DB;DBA=NA;PAF=G/0.1138,T/0.8862;PC=0.593;Gene=ZNF638/NM_001014972.2/1;CC=c.-274G>T;VC=5UTR;Gene=ZNF638/NM_001252612.1/0;CC=c.-600G>T;VC=5UTR;Gene=ZNF638/NM_001252613.1/0;CC=c.-284G>T;VC=5UTR;Gene=ZNF638/NM_014497.4/0;CC=c.-284G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:222:145:0:0:1,221:13,7280:0.00,831.10:0.00,396.30:0.00,434.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.0,40.4:0,0:0,0:6,77:145,70:0,35:NM_001252612.1(ZNF638) c.-600G>T,NM_001252612.1(ZNF638) c.-600G>T:0.9,0.9:NOT_FOUND,NOT_FOUND 2 71559006 . G . . NT END=71575556;NT GT ./. 2 71559107 rs2287326 T G 304 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.614,G/0.386;PC=1.000;Gene=ZNF638/NM_001014972.2/1;CC=c.-203+112T>G;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.-529+112T>G;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.-203+102T>G;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.-203+102T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:19:0:0:86:2633:304.20:37.75:266.45:1.00:1.00:1.00:60:59.6:0:0:108:43:24:NM_001252612.1(ZNF638) c.-529+112T>G,NM_001252612.1(ZNF638) c.-529+112T>G:0.4,0.4:NOT_FOUND,NOT_FOUND 2 71559132 . T G 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=70;PC=1.000;Gene=ZNF638/NM_001014972.2/1;CC=c.-203+137T>G;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.-529+137T>G;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.-203+127T>G;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.-203+127T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:G,T:70:7:0:0:10,60:156,1661:8.15,0.00:-0.27,0.00:8.42,0.00:0.99,0.00:0.62,0.00:1.00,0.00:60,60:109.4,54.9:0,0:0,0:54,121:83,28:13,20:NM_001252612.1(ZNF638) c.-529+137T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 71577402 . G . . NT END=71582848;NT GT ./. 2 71582911 . G . . NT END=71590282;NT GT ./. 2 71590322 . G . . NT END=71591083;NT GT ./. 2 71590964 rs4852255 C G 179 nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.5753,G/0.4247;Gene=ZNF638/NM_001014972.2/1;CC=c.1419-120C>G;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.1419-120C>G;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.1419-120C>G;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.1419-120C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:G:49:49:0:0:49:1554:178.62:178.62:0.00:1.00:1.00:0.00:60:49.4:0:0:50:101:31:NM_001252612.1(ZNF638) c.1419-120C>G,NM_001252612.1(ZNF638) c.1419-120C>G:0.43,0.43:NOT_FOUND,NOT_FOUND 2 71591383 . G . . NT END=71592558;NT GT ./. 2 71592444 rs2542511 G T 68 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.1138,T/0.8862;Gene=ZNF638/NM_001014972.2/1;CC=c.1718-115G>T;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.1718-115G>T;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.1718-115G>T;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.1718-115G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:20:0:0:20:582:67.58:67.58:0.00:1.00:1.00:0.00:60:39.8:0:0:59:90:35:NM_001252612.1(ZNF638) c.1718-115G>T,NM_001252612.1(ZNF638) c.1718-115G>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 71592837 . G . . NT END=71595511;NT GT ./. 2 71595238 rs2542513 C A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1136,A/0.8864;Gene=ZNF638/NM_001014972.2/1;CC=c.1996-274C>A;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.1996-274C>A;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.1996-274C>A;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.1996-274C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:208:24.13:24.13:0.00:1.00:1.00:0.00:60:56.3:0:0:58:93:17:NM_001252612.1(ZNF638) c.1996-274C>A,NM_001252612.1(ZNF638) c.1996-274C>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 71595659 . G . . NT END=71597012;NT GT ./. 2 71597136 . G . . NT END=71607351;NT GT ./. 2 71607411 . G . . NT END=71607642;NT GT ./. 2 71607539 rs17693408 G A 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6789,A/0.3211;Gene=ZNF638/NM_001014972.2/1;CC=c.2325-104G>A;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.2325-104G>A;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.2325-104G>A;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.2325-104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:10:0:0:16:517:59.33:35.33:24.00:1.00:1.00:1.00:60:34.2:0:0:101:48:36:NM_001252612.1(ZNF638) c.2325-104G>A,NM_001252612.1(ZNF638) c.2325-104G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 2 71607696 . G . . NT END=71623270;NT GT ./. 2 71623322 . G . . NT END=71625830;NT GT ./. 2 71625903 . G . . NT END=71626688;NT GT ./. 2 71626776 . G . . NT END=71627241;NT GT ./. 2 71627311 . G . . NT END=71627607;NT GT ./. 2 71627539 rs3771371 C T 91 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6268,T/0.3732;Gene=ZNF638/NM_001014972.2/1;CC=c.2657-69C>T;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.2657-69C>T;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.2657-69C>T;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.2657-69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:21:0:0:25:791:90.98:60.02:30.97:1.00:1.00:1.00:60:41.4:0:0:55:88:23:NM_001252612.1(ZNF638) c.2657-69C>T,NM_001252612.1(ZNF638) c.2657-69C>T:0.38,0.38:0.44186,0.44186 2 71627649 . G . . NT END=71629085;NT GT ./. 2 71627860 rs10210436 G T 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.02835,T/0.9716;PC=0.121;Gene=ZNF638/NM_001014972.2/1;CC=c.2697+212G>T;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.2697+212G>T;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.2697+212G>T;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.2697+212G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:211:24.42:0.00:24.42:1.00:0.00:1.00:60:55.0:0:0:107:44:23:NM_001252612.1(ZNF638) c.2697+212G>T,NM_001252612.1(ZNF638) c.2697+212G>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 71629218 . G . . NT END=71630999;NT GT ./. 2 71629444 rs6546689 C T 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.07468,T/0.9253;PC=0.001;Gene=ZNF638/NM_001014972.2/1;CC=c.2829+227C>T;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.2829+227C>T;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.2829+227C>T;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.2829+227C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:282:32.49:0.00:32.49:1.00:0.00:1.00:60:41.7:0:0:98:52:25:NM_001252612.1(ZNF638) c.2829+227C>T,NM_001252612.1(ZNF638) c.2829+227C>T:0.93,0.93:NOT_FOUND,NOT_FOUND 2 71631129 . G . . NT END=71632730;NT GT ./. 2 71631345 rs4852256 A T 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5743,T/0.4257;Gene=ZNF638/NM_001014972.2/1;CC=c.2958+217A>T;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.2958+217A>T;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.2958+217A>T;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.2958+217A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:280:32.29:0.00:32.29:1.00:0.00:1.00:60:33.2:0:0:85:66:42:NM_001252612.1(ZNF638) c.2958+217A>T,NM_001252612.1(ZNF638) c.2958+217A>T:0.43,0.43:NOT_FOUND,NOT_FOUND 2 71632773 . G . . NT END=71633257;NT GT ./. 2 71633275 rs3732233 T C 365 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.5877,C/0.4123;PC=0.998;Gene=ZNF638/NM_001014972.2/1;CC=c.3018T>C;ProtCh=p.I1006=;VC=Silent;Gene=ZNF638/NM_001252612.1/0;CC=c.3018T>C;ProtCh=p.I1006=;VC=Silent;Gene=ZNF638/NM_001252613.1/0;CC=c.3018T>C;ProtCh=p.I1006=;VC=Silent;Gene=ZNF638/NM_014497.4/0;CC=c.3018T>C;ProtCh=p.I1006=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:68:0:0:95:3199:365.14:193.68:171.47:1.00:1.00:1.00:60:45.7:0:0:75:70:21:NM_001252612.1(ZNF638) c.3018T>C (p.(=)),NM_001252612.1(ZNF638) c.3018T>C (p.(=)):0.42,0.42:0.461402,0.461402 2 71633389 rs6714975 C T 203 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.5753,T/0.4247;PC=0.997;Gene=ZNF638/NM_001014972.2/1;CC=c.3132C>T;ProtCh=p.N1044=;VC=Silent;Gene=ZNF638/NM_001252612.1/0;CC=c.3132C>T;ProtCh=p.N1044=;VC=Silent;Gene=ZNF638/NM_001252613.1/0;CC=c.3132C>T;ProtCh=p.N1044=;VC=Silent;Gene=ZNF638/NM_014497.4/0;CC=c.3132C>T;ProtCh=p.N1044=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:T:57:19:0:0:57:1760:203.04:45.83:157.21:1.00:1.00:1.00:60:45.9:0:0:93:56:33:NM_001252612.1(ZNF638) c.3132C>T (p.(=)),NM_001252612.1(ZNF638) c.3132C>T (p.(=)):0.43,0.43:0.474854,0.474854 2 71633393 . G . . NT END=71635251;NT GT ./. 2 71635378 . G . . NT END=71645731;NT GT ./. 2 71645770 . G . . NT END=71649943;NT GT ./. 2 71645828 rs4852783 G A 80 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5877,A/0.4123;PC=0.010;Gene=ZNF638/NM_001014972.2/1;CC=c.3299+59G>A;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.3299+59G>A;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.3299+59G>A;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.3299+59G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:7:0:0:22:695:79.99:13.86:66.13:1.00:1.00:1.00:60:49.0:0:0:108:40:19:NM_001252612.1(ZNF638) c.3299+59G>A,NM_001252612.1(ZNF638) c.3299+59G>A:0.42,0.42:0.472663,0.472663 2 71645890 rs4852784 G C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3866,C/0.6134;Gene=ZNF638/NM_001014972.2/1;CC=c.3299+121G>C;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.3299+121G>C;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.3299+121G>C;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.3299+121G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:267:30.51:0.00:30.51:1.00:0.00:1.00:60:83.0:0:0:98:51:22:NM_001252612.1(ZNF638) c.3299+121G>C,NM_001252612.1(ZNF638) c.3299+121G>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 71645946 rs4438512 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5875,A/0.4125;PC=0.022;Gene=ZNF638/NM_001014972.2/1;CC=c.3299+177G>A;VC=Intron;Gene=ZNF638/NM_001252612.1/0;CC=c.3299+177G>A;VC=Intron;Gene=ZNF638/NM_001252613.1/0;CC=c.3299+177G>A;VC=Intron;Gene=ZNF638/NM_014497.4/0;CC=c.3299+177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:161:18.48:0.00:18.48:1.00:0.00:1.00:60:92.0:0:0:124:26:25:NM_001252612.1(ZNF638) c.3299+177G>A,NM_001252612.1(ZNF638) c.3299+177G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 2 71651169 . G . . NT END=71651779;NT GT ./. 2 71651846 . G . . NT END=71653589;NT GT ./. 2 71654545 . G . . NT END=71655676;NT GT ./. 2 71655782 . G . . NT END=71658456;NT GT ./. 2 71658559 . G . . NT END=71660294;NT GT ./. 2 71660414 . G . . NT END=71661871;NT GT ./. 2 71661938 . T . . NT END=71681128;NT GT ./. 2 71681218 . T . . NT END=71693823;NT GT ./. 2 71694064 . G . . NT END=71708012;NT GT ./. 2 71708070 . T . . NT END=71709008;NT GT ./. 2 71708825 rs75288288 T TATCC 19 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;NP=60;Gene=DYSF/NM_001130976.1/0;CC=c.145-150_145-149insCCAT;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.145-150_145-149insCCAT;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.145-150_145-149insCCAT;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.145-150_145-149insCCAT;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.145-150_145-149insCCAT;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.145-150_145-149insCCAT;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.145-150_145-149insCCAT;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.148-150_148-149insCCAT;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.148-150_148-149insCCAT;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.148-150_148-149insCCAT;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.148-150_148-149insCCAT;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.148-150_148-149insCCAT;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.148-150_148-149insCCAT;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.148-150_148-149insCCAT;VC=Intron;DM=DYSF/C2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TATCC:6:6:6:0:6:166:19.40:19.40:0.00:1.00:1.00:0.00:60:1.8:0:0:46:103:15:NM_001130978.1(DYSF) c.145-184_145-183insATCC,NM_001130978.1(DYSF) c.145-184_145-183insATCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 71709102 . T . . NT END=71730343;NT GT ./. 2 71730451 . T . . NT END=71738936;NT GT ./. 2 71738987 rs34603128 C T 124 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=81;DB;DBA=in-clinvar;PAF=C/0.8878,T/0.1122;PC=0.001;Gene=DYSF/NM_001130976.1/0;CC=c.393C>T;ProtCh=p.P131=;VC=Silent;Gene=DYSF/NM_001130977.1/0;CC=c.393C>T;ProtCh=p.P131=;VC=Silent;Gene=DYSF/NM_001130978.1/0;CC=c.393C>T;ProtCh=p.P131=;VC=Silent;Gene=DYSF/NM_001130979.1/0;CC=c.393C>T;ProtCh=p.P131=;VC=Silent;Gene=DYSF/NM_001130980.1/0;CC=c.393C>T;ProtCh=p.P131=;VC=Silent;Gene=DYSF/NM_001130981.1/0;CC=c.393C>T;ProtCh=p.P131=;VC=Silent;Gene=DYSF/NM_003494.3/1;CC=c.393C>T;ProtCh=p.P131=;VC=Silent;Gene=DYSF/NM_001130455.1/0;CC=c.396C>T;ProtCh=p.P132=;VC=Silent;Gene=DYSF/NM_001130982.1/0;CC=c.396C>T;ProtCh=p.P132=;VC=Silent;Gene=DYSF/NM_001130983.1/0;CC=c.396C>T;ProtCh=p.P132=;VC=Silent;Gene=DYSF/NM_001130984.1/0;CC=c.396C>T;ProtCh=p.P132=;VC=Silent;Gene=DYSF/NM_001130985.1/0;CC=c.396C>T;ProtCh=p.P132=;VC=Silent;Gene=DYSF/NM_001130986.1/0;CC=c.396C>T;ProtCh=p.P132=;VC=Silent;Gene=DYSF/NM_001130987.1/0;CC=c.396C>T;ProtCh=p.P132=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:61:0:0:41,40:1339,1291:0.00,123.73:0.00,49.30:0.00,74.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,42.0:0,0:0,0:71,75:80,53:36,26:-,NM_001130978.1(DYSF) c.393C>T (p.(=)):-,0.12:-,0.128906 2 71739053 . T . . NT END=71740369;NT GT ./. 2 71740464 . T . . NT END=71740845;NT GT ./. 2 71741053 . T . . NT END=71742752;NT GT ./. 2 71741257 rs55816929 G C 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.031;Gene=DYSF/NM_001130976.1/0;CC=c.663+206G>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.663+206G>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.663+206G>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.756+206G>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.756+206G>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.756+206G>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.663+206G>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.666+206G>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.759+206G>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.666+206G>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.666+206G>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.759+206G>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.666+206G>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.759+206G>C;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,G:4:0:0:0:3,1:87,32:9.15,0.00:0.00,0.00:9.15,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:34.7,144.0:0,0:0,0:130,85:21,50:2,0:NM_001130978.1(DYSF) c.663+206G>C,-:0.2,-:NOT_FOUND,- 2 71742736 rs61104194 C T 132 nt VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=in-clinvar;PAF=C/0.9012,T/0.09884;Gene=DYSF/NM_001130976.1/0;CC=c.664-17C>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.664-17C>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.664-17C>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.757-17C>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.757-17C>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.757-17C>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.664-17C>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.667-17C>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.760-17C>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.667-17C>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.667-17C>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.760-17C>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.667-17C>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.760-17C>T;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:92:81:0:0:50,42:1646,1395:0.00,131.97:0.00,101.01:0.00,30.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,44.8:0,0:0,0:48,55:98,95:27,34:-,NM_001130978.1(DYSF) c.664-17C>T:-,0.1:-,0.125942 2 71742883 . T . . NT END=71743309;NT GT ./. 2 71743374 . T . . NT END=71744118;NT GT ./. 2 71743640 rs6546702 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4187,C/0.5813;Gene=DYSF/NM_001130976.1/0;CC=c.855+268T>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.855+268T>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.855+268T>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.948+268T>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.948+268T>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.948+268T>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.855+268T>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.858+268T>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.951+268T>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.858+268T>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.858+268T>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.951+268T>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.858+268T>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.951+268T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:125:14.84:0.00:14.84:1.00:0.00:1.00:60:85.6:0:0:88:63:12:NM_001130978.1(DYSF) c.855+268T>C,NM_001130978.1(DYSF) c.855+268T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 2 71744171 . T . . NT END=71747307;NT GT ./. 2 71747235 rs11675897 A G 173 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.344,G/0.656;Gene=DYSF/NM_001130976.1/0;CC=c.907-73A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.907-73A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.907-73A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1000-73A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1000-73A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1000-73A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.907-73A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.910-73A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1003-73A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.910-73A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.910-73A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1003-73A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.910-73A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1003-73A>G;VC=Intron;DM=DYSF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:52:48:0:0:52:1492:173.45:127.45:46.00:1.00:1.00:1.00:60:42.1:0:0:36:111:21:NM_001130978.1(DYSF) c.907-73A>G,NM_001130978.1(DYSF) c.907-73A>G:0.67,0.67:0.837933,0.837933 2 71747340 . T . . NT END=71747918;NT GT ./. 2 71747432 rs11687223 G T 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4363,T/0.5637;PC=0.192;Gene=DYSF/NM_001130976.1/0;CC=c.937+94G>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.937+94G>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.937+94G>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1030+94G>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1030+94G>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1030+94G>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.937+94G>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.940+94G>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1033+94G>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.940+94G>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.940+94G>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1033+94G>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.940+94G>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1033+94G>T;VC=Intron;DM=DYSF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:5:0:0:29:877:101.40:10.68:90.72:1.00:1.00:1.00:60:40.1:0:0:91:60:30:NM_001130978.1(DYSF) c.937+94G>T,NM_001130978.1(DYSF) c.937+94G>T:0.56,0.56:NOT_FOUND,NOT_FOUND 2 71747568 rs12997658 G T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4363,T/0.5637;Gene=DYSF/NM_001130976.1/0;CC=c.937+230G>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.937+230G>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.937+230G>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1030+230G>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1030+230G>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1030+230G>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.937+230G>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.940+230G>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1033+230G>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.940+230G>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.940+230G>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1033+230G>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.940+230G>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1033+230G>T;VC=Intron;DM=DYSF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:1:0:0:8:248:28.58:3.48:25.10:1.00:1.00:1.00:60:40.6:0:0:87:63:25:NM_001130978.1(DYSF) c.937+230G>T,NM_001130978.1(DYSF) c.937+230G>T:0.56,0.56:NOT_FOUND,NOT_FOUND 2 71747723 rs12713754 C G 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4365,G/0.5635;PC=0.001;Gene=DYSF/NM_001130976.1/0;CC=c.938-196C>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.938-196C>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.938-196C>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1031-196C>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1031-196C>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1031-196C>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.938-196C>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.941-196C>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1034-196C>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.941-196C>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.941-196C>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1034-196C>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.941-196C>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1034-196C>G;VC=Intron;DM=DYSF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C,G:12:11:0:0:1,11:18,335:0.00,37.25:0.00,33.51:0.00,3.74:0.00,1.00:0.00,1.00:0.00,0.94:60,60:32.0,70.5:0,0:0,0:4,48:145,103:0,48:NM_001130978.1(DYSF) c.938-196C>G,NM_001130978.1(DYSF) c.938-196C>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 71747851 rs12713755 T C 140 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.3438,C/0.6562;Gene=DYSF/NM_001130976.1/0;CC=c.938-68T>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.938-68T>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.938-68T>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1031-68T>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1031-68T>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1031-68T>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.938-68T>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.941-68T>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1034-68T>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.941-68T>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.941-68T>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1034-68T>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.941-68T>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1034-68T>C;VC=Intron;DM=DYSF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C,T:38:36:0:0:37,1:1244,32:139.97,0.00:121.82,0.00:18.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.2,32.0:0,0:0,0:42,132:109,17:32,0:NM_001130978.1(DYSF) c.938-68T>C,NM_001130978.1(DYSF) c.938-68T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 2 71747899 rs12713756 G A 108 nt VT=SNV;PN=A;NN=A;SST=Single;DP=71;DB;DBA=in-clinvar;PAF=G/0.6322,A/0.3678;Gene=DYSF/NM_001130976.1/0;CC=c.938-20G>A;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.938-20G>A;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.938-20G>A;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1031-20G>A;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1031-20G>A;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1031-20G>A;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.938-20G>A;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.941-20G>A;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1034-20G>A;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.941-20G>A;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.941-20G>A;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1034-20G>A;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.941-20G>A;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1034-20G>A;VC=Intron;DM=DYSF/FerI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:62:0:0:36,35:1118,1175:107.57,0.00:79.57,0.00:28.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.3,22.5:0,0:0,0:41,35:109,111:25,21:NM_001130978.1(DYSF) c.938-20G>A,-:0.38,-:0.496079,- 2 71748036 . T . . NT END=71753349;NT GT ./. 2 71753478 . T . . NT END=71755427;NT GT ./. 2 71753487 rs35982795 C T 156 nt VT=SNV;PN=G;NN=G;SST=Single;DP=140;DB;DBA=in-clinvar;PAF=C/0.8864,T/0.1136;Gene=DYSF/NM_001130976.1/0;CC=c.1180+11C>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1180+11C>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1180+11C>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1273+11C>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1273+11C>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1273+11C>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1180+11C>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1183+11C>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1276+11C>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1183+11C>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1183+11C>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1276+11C>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1183+11C>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1276+11C>T;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:140:80:0:0:83,57:2529,1701:0.00,156.21:0.00,66.78:0.00,89.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.1,45.4:0,0:0,0:97,87:42,56:24,21:-,NM_001130978.1(DYSF) c.1180+11C>T:-,0.12:-,0.153799 2 71755380 rs4852800 A G 198 nt VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.3437,G/0.6563;Gene=DYSF/NM_001130976.1/0;CC=c.1181-48A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1181-48A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1181-48A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1274-48A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1274-48A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1274-48A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1181-48A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1184-48A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1277-48A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1184-48A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1184-48A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1277-48A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1184-48A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1277-48A>G;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:G:51:42:0:0:51:1739:198.22:131.43:66.80:1.00:1.00:1.00:60:37.7:0:0:42:102:22:NM_001130978.1(DYSF) c.1181-48A>G,NM_001130978.1(DYSF) c.1181-48A>G:0.67,0.67:0.846686,0.846686 2 71755533 . T . . NT END=71762150;NT GT ./. 2 71762221 . T . . NT END=71762397;NT GT ./. 2 71762232 rs4852801 C T 84 nt VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=in-clinvar;PAF=C/0.5423,T/0.4577;Gene=DYSF/NM_001130976.1/0;CC=c.1353+13C>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1353+13C>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1353+13C>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1446+13C>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1446+13C>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1446+13C>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1353+13C>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1356+13C>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1449+13C>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1356+13C>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1356+13C>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1449+13C>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1356+13C>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1449+13C>T;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:37:0:0:36,29:1150,900:0.00,84.43:0.00,31.26:0.00,53.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,42.0:0,0:0,0:97,109:46,29:27,26:-,NM_001130978.1(DYSF) c.1353+13C>T:-,0.48:-,0.62894 2 71762310 rs4852802 A G 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.4623,G/0.5377;Gene=DYSF/NM_001130976.1/0;CC=c.1354-88A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1354-88A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1354-88A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1447-88A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1447-88A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1447-88A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1354-88A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1357-88A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1450-88A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1357-88A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1357-88A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1450-88A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1357-88A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1450-88A>G;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:19:0:0:26,16:836,497:0.00,45.21:0.00,9.90:0.00,35.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,50.2:0,0:0,0:71,82:79,69:54,29:-,NM_001130978.1(DYSF) c.1354-88A>G:-,0.54:-,NOT_FOUND 2 71762443 . T . . NT END=71766286;NT GT ./. 2 71766124 rs79617374 G T 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9014,T/0.09864;PC=0.001;Gene=DYSF/NM_001130976.1/0;CC=c.1398-163G>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1398-163G>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1398-163G>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1491-163G>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1491-163G>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1491-163G>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1398-163G>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1401-163G>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1494-163G>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1401-163G>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1401-163G>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1494-163G>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1401-163G>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1494-163G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:G,T:10:10:0:0:3,7:93,225:0.00,23.19:0.00,23.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:29.7,46.1:0,0:0,0:35,53:116,98:8,24:-,NM_001130978.1(DYSF) c.1398-163G>T:-,0.11:-,NOT_FOUND 2 71766371 . T . . NT END=71776479;NT GT ./. 2 71766487 rs7609409 G A 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5429,A/0.4571;Gene=DYSF/NM_001130976.1/0;CC=c.1480+118G>A;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1480+118G>A;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1480+118G>A;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1573+118G>A;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1573+118G>A;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1573+118G>A;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1480+118G>A;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1483+118G>A;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1576+118G>A;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1483+118G>A;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1483+118G>A;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1576+118G>A;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1483+118G>A;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1576+118G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G:15:0:0:0:10,5:325,173:33.12,0.00:0.00,0.00:33.12,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.4,13.8:0,0:0,0:101,82:49,68:30,59:NM_001130978.1(DYSF) c.1480+118G>A,-:0.48,-:NOT_FOUND,- 2 71766622 rs78115186 T A 10 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.901,A/0.09904;Gene=DYSF/NM_001130976.1/0;CC=c.1480+253T>A;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1480+253T>A;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1480+253T>A;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1573+253T>A;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1573+253T>A;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1573+253T>A;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1480+253T>A;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1483+253T>A;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1576+253T>A;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1483+253T>A;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1483+253T>A;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1576+253T>A;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1483+253T>A;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1576+253T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:A,T:4:0:0:0:3,1:98,20:10.26,0.00:0.00,0.00:10.26,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:34.7,55.0:0,0:0,0:144,126:6,23:3,0:NM_001130978.1(DYSF) c.1480+253T>A,-:0.11,-:NOT_FOUND,- 2 71776345 rs736096 C T 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5461,T/0.4539;PC=0.021;Gene=DYSF/NM_001130976.1/0;CC=c.1481-1826C>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1481-1826C>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1481-135C>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1574-135C>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1574-1826C>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1574-1826C>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1481-135C>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1484-135C>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1577-135C>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1484-135C>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1484-1826C>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1577-1826C>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1484-1826C>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1577-1826C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:8,8:210,280:0.00,27.02:0.00,27.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:24.9,93.1:0,0:0,0:56,32:95,119:50,18:-,NM_001130978.1(DYSF) c.1481-135C>T:-,0.43:-,NOT_FOUND 2 71776346 rs934061 A G 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3528,G/0.6472;Gene=DYSF/NM_001130976.1/0;CC=c.1481-1825A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1481-1825A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1481-134A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1574-134A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1574-1825A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1574-1825A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1481-134A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1484-134A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1577-134A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1484-134A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1484-1825A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1577-1825A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1484-1825A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1577-1825A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:G:16:16:0:0:16:439:51.22:51.22:0.00:1.00:1.00:0.00:60:59.0:0:0:40:110:26:NM_001130978.1(DYSF) c.1481-134A>G,NM_001130978.1(DYSF) c.1481-134A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 71776523 . T . . NT END=71778170;NT GT ./. 2 71778288 . T . . NT END=71778736;NT GT ./. 2 71778852 . T . . NT END=71780140;NT GT ./. 2 71779032 rs7582130 G A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5385,A/0.4615;Gene=DYSF/NM_001130976.1/0;CC=c.1710+182G>A;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1710+182G>A;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1752+182G>A;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1845+182G>A;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1803+182G>A;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1803+182G>A;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1752+182G>A;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1755+182G>A;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1848+182G>A;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1755+182G>A;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1713+182G>A;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1806+182G>A;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1713+182G>A;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1806+182G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:221:26.26:0.00:26.26:1.00:0.00:1.00:60:33.9:0:0:121:30:15:NM_001130978.1(DYSF) c.1752+182G>A,NM_001130978.1(DYSF) c.1752+182G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 2 71779853 rs7599496 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.387,C/0.613;Gene=DYSF/NM_001130976.1/0;CC=c.1711-288T>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1711-288T>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1753-288T>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.1846-288T>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1804-288T>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1804-288T>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1753-288T>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1756-288T>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.1849-288T>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1756-288T>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1714-288T>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1807-288T>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1714-288T>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1807-288T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:66.8:0:0:83:67:25:NM_001130978.1(DYSF) c.1753-288T>C,NM_001130978.1(DYSF) c.1753-288T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 71780215 rs2303596 T C 415 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=113;DB;DBA=in-clinvar;PAF=T/0.4245,C/0.5755;Gene=DYSF/NM_001130976.1/0;CC=c.1785T>C;ProtCh=p.D595=;VC=Silent;Gene=DYSF/NM_001130977.1/0;CC=c.1785T>C;ProtCh=p.D595=;VC=Silent;Gene=DYSF/NM_001130978.1/0;CC=c.1827T>C;ProtCh=p.D609=;VC=Silent;Gene=DYSF/NM_001130979.1/0;CC=c.1920T>C;ProtCh=p.D640=;VC=Silent;Gene=DYSF/NM_001130980.1/0;CC=c.1878T>C;ProtCh=p.D626=;VC=Silent;Gene=DYSF/NM_001130981.1/0;CC=c.1878T>C;ProtCh=p.D626=;VC=Silent;Gene=DYSF/NM_003494.3/1;CC=c.1827T>C;ProtCh=p.D609=;VC=Silent;Gene=DYSF/NM_001130455.1/0;CC=c.1830T>C;ProtCh=p.D610=;VC=Silent;Gene=DYSF/NM_001130982.1/0;CC=c.1923T>C;ProtCh=p.D641=;VC=Silent;Gene=DYSF/NM_001130983.1/0;CC=c.1830T>C;ProtCh=p.D610=;VC=Silent;Gene=DYSF/NM_001130984.1/0;CC=c.1788T>C;ProtCh=p.D596=;VC=Silent;Gene=DYSF/NM_001130985.1/0;CC=c.1881T>C;ProtCh=p.D627=;VC=Silent;Gene=DYSF/NM_001130986.1/0;CC=c.1788T>C;ProtCh=p.D596=;VC=Silent;Gene=DYSF/NM_001130987.1/0;CC=c.1881T>C;ProtCh=p.D627=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:113:87:0:0:113:3614:415.21:228.78:186.43:1.00:1.00:1.00:60:36.4:0:0:69:76:35:NM_001130978.1(DYSF) c.1827T>C (p.(=)),NM_001130978.1(DYSF) c.1827T>C (p.(=)):0.59,0.59:0.734892,0.734892 2 71780320 . T . . NT END=71780936;NT GT ./. 2 71780821 rs2303597 T C 168 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.4095,C/0.5905;Gene=DYSF/NM_001130976.1/0;CC=c.1889-116T>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.1889-116T>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.1931-116T>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.2024-116T>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.1982-116T>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.1982-116T>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.1931-116T>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.1934-116T>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.2027-116T>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.1934-116T>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.1892-116T>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.1985-116T>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.1892-116T>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.1985-116T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:41:0:0:46:1462:168.07:123.18:44.88:1.00:1.00:1.00:60:54.5:0:0:47:76:25:NM_001130978.1(DYSF) c.1931-116T>C,NM_001130978.1(DYSF) c.1931-116T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 71781063 . T . . NT END=71783094;NT GT ./. 2 71781161 rs5832058 GAC G 77 nt VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=GAC/0.893,G/0.107;DB;DBA=NA;PAF=GAC/0.893,G/0.107;NP=587;Gene=DYSF/NM_001130976.1/0;CC=c.2013+105_2013+106delAC;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.2013+105_2013+106delAC;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.2055+105_2055+106delAC;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.2148+105_2148+106delAC;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.2106+105_2106+106delAC;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.2106+105_2106+106delAC;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.2055+105_2055+106delAC;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.2058+105_2058+106delAC;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.2151+105_2151+106delAC;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.2058+105_2058+106delAC;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.2016+105_2016+106delAC;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.2109+105_2109+106delAC;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.2016+105_2016+106delAC;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.2109+105_2109+106delAC;VC=Intron;DM=DYSF/FerA;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAC,G:50:8:0:25:25,25:834,803:0.00,77.17:0.00,4.26:0.00,72.91:0.00,1.00:0.00,0.87:0.00,1.00:60,60:11.2,2.0:0,0:0,0:136,83:15,68:8,25:-,NM_001130978.1(DYSF) c.2055+101_2055+102delAC:-,NOT_FOUND:-,NOT_FOUND 2 71783203 . T . . NT END=71788881;NT GT ./. 2 71789076 . T . . NT END=71791187;NT GT ./. 2 71791345 . T . . NT END=71795080;NT GT ./. 2 71795214 . T . . NT END=71795301;NT GT ./. 2 71795470 . T . . NT END=71796949;NT GT ./. 2 71797066 . T . . NT END=71797358;NT GT ./. 2 71797466 . T . . NT END=71797728;NT GT ./. 2 71797712 rs3764971 G A 429 nt VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=in-clinvar;PAF=G/0.7394,A/0.2606,T/.;Gene=DYSF/NM_001130976.1/0;CC=c.2990-17G>A;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.2990-17G>A;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3032-17G>A;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3125-17G>A;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3083-17G>A;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3083-17G>A;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3032-17G>A;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3035-17G>A;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3128-17G>A;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3035-17G>A;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.2993-17G>A;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3086-17G>A;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.2993-17G>A;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3086-17G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:114:99:0:0:114:3750:429.21:305.33:123.88:1.00:1.00:1.00:60:43.2:0:0:56:93:32:NM_001130978.1(DYSF) c.3032-17G>A,NM_001130978.1(DYSF) c.3032-17G>A:0.24,0.24:0.171666,0.171666 2 71797873 . T . . NT END=71801327;NT GT ./. 2 71801022 rs12328124 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5385,A/0.4615;PC=0.013;Gene=DYSF/NM_001130976.1/0;CC=c.3133-306G>A;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.3133-306G>A;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3175-306G>A;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3268-306G>A;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3226-306G>A;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3226-306G>A;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3175-306G>A;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3178-306G>A;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3271-306G>A;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3178-306G>A;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.3136-306G>A;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3229-306G>A;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.3136-306G>A;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3229-306G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:33.6:0:0:38:113:29:NM_001130978.1(DYSF) c.3175-306G>A,NM_001130978.1(DYSF) c.3175-306G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 2 71801334 rs398123779 C CAGGCGG 168 PASS VT=INS;SST=Single;DP=173;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.9774,CAGGCGG/0.02256,CGG/.;DB;DBA=NA;PAF=C/0.9774,CAGGCGG/0.02256;PC=1.000;Gene=DYSF/NM_001130976.1/0;CC=c.3149_3154dupCGGAGG;ProtCh=p.E1051_G1052insAE;VC=InFrameIns;Gene=DYSF/NM_001130977.1/0;CC=c.3149_3154dupCGGAGG;ProtCh=p.E1051_G1052insAE;VC=InFrameIns;Gene=DYSF/NM_001130978.1/0;CC=c.3191_3196dupCGGAGG;ProtCh=p.E1065_G1066insAE;VC=InFrameIns;Gene=DYSF/NM_001130979.1/0;CC=c.3284_3289dupCGGAGG;ProtCh=p.E1096_G1097insAE;VC=InFrameIns;Gene=DYSF/NM_001130980.1/0;CC=c.3242_3247dupCGGAGG;ProtCh=p.E1082_G1083insAE;VC=InFrameIns;Gene=DYSF/NM_001130981.1/0;CC=c.3242_3247dupCGGAGG;ProtCh=p.E1082_G1083insAE;VC=InFrameIns;Gene=DYSF/NM_003494.3/1;CC=c.3191_3196dupCGGAGG;ProtCh=p.E1065_G1066insAE;VC=InFrameIns;Gene=DYSF/NM_001130455.1/0;CC=c.3194_3199dupCGGAGG;ProtCh=p.E1066_G1067insAE;VC=InFrameIns;Gene=DYSF/NM_001130982.1/0;CC=c.3287_3292dupCGGAGG;ProtCh=p.E1097_G1098insAE;VC=InFrameIns;Gene=DYSF/NM_001130983.1/0;CC=c.3194_3199dupCGGAGG;ProtCh=p.E1066_G1067insAE;VC=InFrameIns;Gene=DYSF/NM_001130984.1/0;CC=c.3152_3157dupCGGAGG;ProtCh=p.E1052_G1053insAE;VC=InFrameIns;Gene=DYSF/NM_001130985.1/0;CC=c.3245_3250dupCGGAGG;ProtCh=p.E1083_G1084insAE;VC=InFrameIns;Gene=DYSF/NM_001130986.1/0;CC=c.3152_3157dupCGGAGG;ProtCh=p.E1052_G1053insAE;VC=InFrameIns;Gene=DYSF/NM_001130987.1/0;CC=c.3245_3250dupCGGAGG;ProtCh=p.E1083_G1084insAE;VC=InFrameIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CAGGCGG:172:139:62:0:110,1,61:3709,30,1907:0.00,0.99,168.13:0.00,1.11,107.89:0.00,-0.12,60.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.2,30.0,4.6:1,0,1:0,0,0:67,1,57:75,150,89:38,0,22:-,NM_001130978.1(DYSF) c.3191_3196dupCGGAGG (p.Ala1064_Glu1065dup):-,NOT_FOUND:-,0.041951 2 71801503 . T . . NT END=71816722;NT GT ./. 2 71816602 rs3811611 G C 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3954,C/0.6046;Gene=DYSF/NM_001130976.1/0;CC=c.3307-121G>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.3307-121G>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3349-121G>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3442-121G>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3400-121G>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3400-121G>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3349-121G>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3352-121G>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3445-121G>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3352-121G>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.3310-121G>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3403-121G>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.3310-121G>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3403-121G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:C:22:22:0:0:22:638:74.08:74.08:0.00:1.00:1.00:0.00:60:38.5:0:0:32:119:23:NM_001130978.1(DYSF) c.3349-121G>C,NM_001130978.1(DYSF) c.3349-121G>C:0.64,0.64:NOT_FOUND,NOT_FOUND 2 71816818 . T . . NT END=71817340;NT GT ./. 2 71817003 rs1473228 A G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2688,G/0.7312;Gene=DYSF/NM_001130976.1/0;CC=c.3400+187A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.3400+187A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3442+187A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3535+187A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3493+187A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3493+187A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3442+187A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3445+187A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3538+187A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3445+187A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.3403+187A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3496+187A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.3403+187A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3496+187A>G;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:2:0:0:5:166:18.98:7.15:11.83:1.00:1.00:1.00:60:52.4:0:0:64:86:29:NM_001130978.1(DYSF) c.3442+187A>G,NM_001130978.1(DYSF) c.3442+187A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 2 71817420 . T . . NT END=71825693;NT GT ./. 2 71817571 rs720541 A T 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.7602,T/0.2398;Gene=DYSF/NM_001130976.1/0;CC=c.3478+153A>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.3478+153A>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3520+153A>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3613+153A>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3571+153A>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3571+153A>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3520+153A>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3523+153A>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3616+153A>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3523+153A>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.3481+153A>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3574+153A>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.3481+153A>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3574+153A>T;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:467:53.38:0.00:53.38:1.00:0.00:1.00:60:36.6:0:0:119:31:22:NM_001130978.1(DYSF) c.3520+153A>T,NM_001130978.1(DYSF) c.3520+153A>T:0.23,0.23:NOT_FOUND,NOT_FOUND 2 71825877 . T . . NT END=71827831;NT GT ./. 2 71826077 rs934062 T C 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7416,C/0.2584;Gene=DYSF/NM_001130976.1/0;CC=c.3660+202T>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.3660+202T>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3702+202T>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3795+202T>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3753+202T>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3753+202T>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3702+202T>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3705+202T>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3798+202T>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3705+202T>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.3663+202T>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3756+202T>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.3663+202T>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3756+202T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:251:29.37:0.00:29.37:1.00:0.00:1.00:60:34.7:0:0:102:42:17:NM_001130978.1(DYSF) c.3702+202T>C,NM_001130978.1(DYSF) c.3702+202T>C:0.26,0.26:NOT_FOUND,NOT_FOUND 2 71827974 . T . . NT END=71828628;NT GT ./. 2 71828423 rs2303604 A T 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.08966,T/0.9103;Gene=DYSF/NM_001130976.1/0;CC=c.3802-206A>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.3802-206A>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3844-206A>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3937-206A>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3895-206A>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3895-206A>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3844-206A>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3847-206A>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3940-206A>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3847-206A>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.3805-206A>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3898-206A>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.3805-206A>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3898-206A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:17:0:0:17:539:62.00:62.00:0.00:1.00:1.00:0.00:60:38.3:0:0:38:113:23:NM_001130978.1(DYSF) c.3844-206A>T,NM_001130978.1(DYSF) c.3844-206A>T:0.93,0.93:NOT_FOUND,NOT_FOUND 2 71828660 . T . . NT END=71829905;NT GT ./. 2 71829821 rs1529408 G T 161 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.08886,T/0.9111;PC=0.001;Gene=DYSF/NM_001130976.1/0;CC=c.3832-85G>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.3832-85G>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.3874-85G>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.3967-85G>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.3925-85G>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.3925-85G>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.3874-85G>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.3877-85G>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.3970-85G>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.3877-85G>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.3835-85G>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.3928-85G>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.3835-85G>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.3928-85G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:T:42:41:0:0:42:1413:161.32:133.98:27.34:1.00:1.00:1.00:60:41.5:0:0:38:112:24:NM_001130978.1(DYSF) c.3874-85G>T,NM_001130978.1(DYSF) c.3874-85G>T:0.93,0.93:0.963863,0.963863 2 71829937 . T . . NT END=71838374;NT GT ./. 2 71838478 . T . . NT END=71838594;NT GT ./. 2 71838758 . T . . NT END=71839770;NT GT ./. 2 71839938 . T . . NT END=71840463;NT GT ./. 2 71840542 . T . . NT END=71847676;NT GT ./. 2 71847741 . T . . NT END=71871094;NT GT ./. 2 71847943 rs12995778 C A 18 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3171,A/0.6829;Gene=DYSF/NM_001130976.1/0;CC=c.4368+7403C>A;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.4431+204C>A;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.4473+204C>A;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.4503+7403C>A;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.4461+7403C>A;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.4524+204C>A;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.4410+7403C>A;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.4413+7403C>A;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.4506+7403C>A;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.4476+204C>A;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.4434+204C>A;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.4464+7403C>A;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.4371+7403C>A;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.4527+204C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:A:7:1:0:0:7:145:17.66:1.99:15.67:1.00:1.00:1.00:60:54.6:0:0:125:26:22:NM_001130978.1(DYSF) c.4473+204C>A,NM_001130978.1(DYSF) c.4473+204C>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 71871039 rs84181 A G 221 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.1753,G/0.8247;Gene=DYSF/NM_001130976.1/0;CC=c.4369-56A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.4432-56A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.4474-56A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.4504-56A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.4462-56A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.4525-56A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.4411-56A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.4414-56A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.4507-56A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.4477-56A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.4435-56A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.4465-56A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.4372-56A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.4528-56A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:54:0:0:59:1930:221.08:163.81:57.27:1.00:1.00:1.00:60:40.2:0:0:26:124:14:NM_001130978.1(DYSF) c.4474-56A>G,NM_001130978.1(DYSF) c.4474-56A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 71871195 . T . . NT END=71883291;NT GT ./. 2 71871236 rs84182 A G 267 nt VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.1617,G/0.8383;Gene=DYSF/NM_001130976.1/0;CC=c.4467+43A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.4530+43A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.4572+43A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.4602+43A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.4560+43A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.4623+43A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.4509+43A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.4512+43A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.4605+43A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.4575+43A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.4533+43A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.4563+43A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.4470+43A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.4626+43A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:30:0:0:69:2344:267.27:66.28:200.99:1.00:1.00:1.00:60:41.2:0:0:100:51:27:NM_001130978.1(DYSF) c.4572+43A>G,NM_001130978.1(DYSF) c.4572+43A>G:0.85,0.85:0.889666,0.889666 2 71883422 . T . . NT END=71886007;NT GT ./. 2 71886165 . T . . NT END=71887689;NT GT ./. 2 71887783 . T . . NT END=71891397;NT GT ./. 2 71891236 rs2303598 C T 71 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.3902,T/0.6098;PC=0.008;Gene=DYSF/NM_001130976.1/0;CC=c.4845-162C>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.4908-162C>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.4950-162C>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.4980-162C>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.4938-162C>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.5001-162C>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.4887-162C>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.4890-162C>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.4983-162C>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.4953-162C>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.4911-162C>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.4941-162C>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.4848-162C>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.5004-162C>T;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G,T:21:21:0:0:1,20:18,622:1.00,71.24:1.00,71.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:99.0,55.6:0,0:0,0:92,53:59,97:0,40:NM_001130978.1(DYSF) c.4950-162C>T,NM_001130978.1(DYSF) c.4950-162C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 2 71891361 rs2303599 C T 343 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.2552,T/0.7448;Gene=DYSF/NM_001130976.1/0;CC=c.4845-37C>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.4908-37C>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.4950-37C>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.4980-37C>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.4938-37C>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.5001-37C>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.4887-37C>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.4890-37C>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.4983-37C>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.4953-37C>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.4911-37C>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.4941-37C>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.4848-37C>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.5004-37C>T;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:95:83:0:0:1,94:8,2990:0.07,343.17:0.07,244.10:0.00,99.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,47.9:0,0:0,0:55,50:96,93:0,26:NM_001130978.1(DYSF) c.4950-37C>T,NM_001130978.1(DYSF) c.4950-37C>T:0.75,0.75:0.811625,0.811625 2 71891570 . T . . NT END=71892291;NT GT ./. 2 71892436 . T . . NT END=71894505;NT GT ./. 2 71894647 . T . . NT END=71895883;NT GT ./. 2 71895974 . T . . NT END=71896241;NT GT ./. 2 71896339 . T . . NT END=71896734;NT GT ./. 2 71896878 . T . . NT END=71901326;NT GT ./. 2 71897075 rs3791829 A G 60 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1677,G/0.8323;PC=0.001;Gene=DYSF/NM_001130976.1/0;CC=c.5625+199A>G;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.5688+199A>G;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.5730+199A>G;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.5760+199A>G;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.5718+199A>G;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.5781+199A>G;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.5667+199A>G;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.5670+199A>G;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.5763+199A>G;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.5733+199A>G;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.5691+199A>G;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.5721+199A>G;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.5628+199A>G;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.5784+199A>G;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:1:0:0:16:521:59.73:1.94:57.79:1.00:1.00:1.00:60:46.8:0:0:101:49:26:NM_001130978.1(DYSF) c.5730+199A>G,NM_001130978.1(DYSF) c.5730+199A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 71901286 rs2559081 C T 121 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.272,T/0.728;Gene=DYSF/NM_001130976.1/0;CC=c.5626-41C>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.5689-41C>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.5731-41C>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.5761-41C>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.5719-41C>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.5782-41C>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.5668-41C>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.5671-41C>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.5764-41C>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.5734-41C>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.5692-41C>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.5722-41C>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.5629-41C>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.5785-41C>T;VC=Intron;DM=DYSF/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:24:0:0:31:1058:120.58:73.22:47.36:1.00:1.00:1.00:60:44.0:0:0:52:99:25:NM_001130978.1(DYSF) c.5731-41C>T,NM_001130978.1(DYSF) c.5731-41C>T:0.73,0.73:0.780025,0.780025 2 71901428 . T . . NT END=71906186;NT GT ./. 2 71906171 rs1863812 T C 189 nt VT=SNV;PN=C;NN=A;SST=Single;DP=52;DB;DBA=in-clinvar;PAF=T/0.1218,C/0.8782;Gene=DYSF/NM_001130976.1/0;CC=c.5726-16T>C;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.5789-16T>C;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.5831-16T>C;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.5861-16T>C;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.5819-16T>C;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.5882-16T>C;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.5768-16T>C;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.5771-16T>C;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.5864-16T>C;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.5834-16T>C;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.5792-16T>C;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.5822-16T>C;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.5729-16T>C;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.5885-16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C:52:47:0:0:52:1641:188.84:149.32:39.52:1.00:1.00:1.00:60:36.7:0:0:66:83:33:NM_001130978.1(DYSF) c.5831-16T>C,NM_001130978.1(DYSF) c.5831-16T>C:0.88,0.88:0.923036,0.923036 2 71906367 . T . . NT END=71908130;NT GT ./. 2 71907930 rs7558412 G T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1745,T/0.8255;Gene=DYSF/NM_001130976.1/0;CC=c.5905-201G>T;VC=Intron;Gene=DYSF/NM_001130977.1/0;CC=c.5968-201G>T;VC=Intron;Gene=DYSF/NM_001130978.1/0;CC=c.6010-201G>T;VC=Intron;Gene=DYSF/NM_001130979.1/0;CC=c.6040-201G>T;VC=Intron;Gene=DYSF/NM_001130980.1/0;CC=c.5998-201G>T;VC=Intron;Gene=DYSF/NM_001130981.1/0;CC=c.6061-201G>T;VC=Intron;Gene=DYSF/NM_003494.3/1;CC=c.5947-201G>T;VC=Intron;Gene=DYSF/NM_001130455.1/0;CC=c.5950-201G>T;VC=Intron;Gene=DYSF/NM_001130982.1/0;CC=c.6043-201G>T;VC=Intron;Gene=DYSF/NM_001130983.1/0;CC=c.6013-201G>T;VC=Intron;Gene=DYSF/NM_001130984.1/0;CC=c.5971-201G>T;VC=Intron;Gene=DYSF/NM_001130985.1/0;CC=c.6001-201G>T;VC=Intron;Gene=DYSF/NM_001130986.1/0;CC=c.5908-201G>T;VC=Intron;Gene=DYSF/NM_001130987.1/0;CC=c.6064-201G>T;VC=Intron;DM=DYSF/Ferlin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:190:21.86:21.86:0.00:1.00:1.00:0.00:60:38.2:0:0:60:90:28:NM_001130978.1(DYSF) c.6010-201G>T,NM_001130978.1(DYSF) c.6010-201G>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 71908242 . T . . NT END=71909659;NT GT ./. 2 71909809 . T . . NT END=71913583;NT GT ./. 2 71913624 . G . . NT END=72359355;NT GT ./. 2 72211390 rs7594591 C T 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4227,T/0.5773;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:21:0:0:14,17:449,581:0.00,56.94:0.00,30.92:0.00,26.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,39.8:0,0:0,0:111,44:39,105:17,30:-,chr2 g.72211389C>T (intergenic):-,0.54:-,NOT_FOUND 2 72359312 rs2241059 A G 110 nt VT=SNV;PN=C;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.8099,G/0.1901;Gene=CYP26B1/NM_001277742.1/0;CC=c.*44T>C;VC=3UTR;Gene=CYP26B1/NM_019885.3/1;CC=c.*44T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:75:72:0:0:34,41:1104,1132:0.00,110.09:0.00,98.70:0.00,11.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,47.7:0,0:0,0:39,21:106,130:29,18:-,NM_019885.2(CYP26B1) c.*44T>C:-,0.18:-,0.195118 2 72359749 . C . . NT END=72360151;NT GT ./. 2 72360437 . C . . NT END=72361889;NT GT ./. 2 72361865 rs2241058 C A 147 nt VT=SNV;PN=C;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.8317,A/0.1683;Gene=CYP26B1/NM_001277742.1/0;CC=c.636+25G>T;VC=Intron;Gene=CYP26B1/NM_019885.3/1;CC=c.861+25G>T;VC=Intron;DM=CYP26B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:110:96:0:0:46,64:1577,1929:147.25,0.00:97.42,0.00:49.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.5,11.3:0,0:0,0:44,64:100,84:29,38:NM_019885.2(CYP26B1) c.861+25G>T,-:0.17,-:0.189557,- 2 72361960 rs2241057 A G 196 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.8275,G/0.1725;PC=0.060;Gene=CYP26B1/NM_001277742.1/0;CC=c.566T>C;ProtCh=p.L189S;VC=Missense;Gene=CYP26B1/NM_019885.3/1;CC=c.791T>C;ProtCh=p.L264S;VC=Missense;DM=CYP26B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:147:97:0:0:82,65:2584,2091:0.00,196.24:0.00,92.03:0.00,104.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,48.2:0,0:0,0:63,65:85,86:39,42:-,NM_019885.2(CYP26B1) c.791T>C (p.Leu264Ser):-,0.17:-,0.197063 2 72362046 . C . . NT END=72362272;NT GT ./. 2 72362549 . C . . NT END=72371117;NT GT ./. 2 72371343 . C . . NT END=72371465;NT GT ./. 2 72371645 . C . . NT END=72374759;NT GT ./. 2 72371661 . A C 10 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=68;Gene=CYP26B1/NM_001277742.1/0;CC=c.204+3099T>G;VC=Intron;Gene=CYP26B1/NM_019885.3/1;CC=c.205-319T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,C,G,T:68:16:0:0:54,10,1,3:1204,165,13,45:0.00,9.52,-0.09,1.09:0.00,8.72,-0.05,-0.13:0.00,0.80,-0.04,1.22:0.00,0.99,0.00,0.00:0.00,0.86,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:11.6,61.6,32.0,32.3:0,0,0,0:0,0,0,0:95,98,113,46:53,17,38,83:25,18,0,41:-,NM_019885.2(CYP26B1) c.205-319T>G:-,NOT_FOUND:-,NOT_FOUND 2 72374549 rs568967860 C G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.998,G/0.001997;Gene=CYP26B1/NM_001277742.1/0;CC=c.204+211G>C;VC=Intron;Gene=CYP26B1/NM_019885.3/1;CC=c.204+211G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,G:13:13:0:0:8,5:254,147:0.00,13.32:0.00,13.43:0.00,-0.11:0.00,0.91:0.00,0.91:0.00,0.59:60,60:18.6,39.8:0,0:0,0:11,17:139,134:10,16:-,NM_019885.2(CYP26B1) c.204+211G>C:-,NOT_FOUND:-,NOT_FOUND 2 72374964 . G . . NT END=72406463;NT GT ./. 2 72379134 . CCACACACA C 10 idl,nt VT=DEL;SST=Single;DP=5;NP=1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:2:0:5:3:157:9.86:5.13:4.73:0.78:0.87:0.97:60:35.0:2:0:58:93:15:NM_019885.2(CYP26B1) c.1-u4179_1-u4172delTGTGTGTG,NM_019885.2(CYP26B1) c.1-u4179_1-u4172delTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 72379179 rs7603034 C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.881,G/0.119;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,G:7:3:0:0:4,3:122,105:0.00,9.86:0.00,1.32:0.00,8.54:0.00,0.69:0.00,0.83:0.00,0.93:60,60:10.8,35.0:0,0:0,0:54,95:97,56:21,11:-,NM_019885.2(CYP26B1) c.1-u4216G>C:-,0.13:-,NOT_FOUND 2 72381895 rs550341344 T TGTGTGA 18 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.961;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TGTGTGA:5:5:5:0:5:161:18.48:12.82:5.67:1.00:1.00:1.00:60:68.4:0:0:63:88:31:NM_019885.2(CYP26B1) c.1-u6933_1-u6932insTCACAC,NM_019885.2(CYP26B1) c.1-u6933_1-u6932insTCACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 72381903 rs62150095 A T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8636,T/0.1364;NP=23;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:167:19.08:11.23:7.85:1.00:1.00:1.00:60:68.4:0:0:77:74:31:NM_019885.2(CYP26B1) c.1-u6940T>A,NM_019885.2(CYP26B1) c.1-u6940T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 72381917 rs73942525 T A 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8888,A/0.1112;NP=1;NP=20;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:179:20.29:6.12:14.17:1.00:1.00:1.00:60:58.6:0:0:60:68:51:NM_019885.2(CYP26B1) c.1-u6954A>T,NM_019885.2(CYP26B1) c.1-u6954A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 72406591 . C . . NT END=72410022;NT GT ./. 2 72410035 . C . . NT END=72411203;NT GT ./. 2 72411317 . C . . NT END=72562075;NT GT ./. 2 72411493 rs62150120 A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9321,G/0.06789;Gene=EXOC6B/NM_015189.1/1;CC=c.2197-177T>C;VC=Intron;DM=EXOC6B/Sec15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:10:0:0:0:6,4:181,98:0.00,8.77:0.00,0.00:0.00,8.77:0.00,0.84:0.00,0.00:0.00,0.84:60,60:14.8,28.0:0,0:0,0:111,73:39,76:12,31:-,NM_015189.1(EXOC6B) c.2197-177T>C:-,0.06:-,NOT_FOUND 2 72562150 . C . . NT END=72606857;NT GT ./. 2 72607000 . C . . NT END=72692288;NT GT ./. 2 72692272 rs5832083 A AAG 166 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.002396,AAG/0.9976;DB;DBA=NA;PAF=A/0.002396,AAG/0.9976;NP=2604;PC=0.013;Gene=EXOC6B/NM_015189.1/1;CC=c.1980+15_1980+16dupCT;VC=Intron;DM=EXOC6B/Sec15;DM=EXOC6B/Sec15;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A,AAG:46:43:45:0:1,45:31,1465:0.00,165.87:0.00,143.57:0.00,22.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,4.2:0,0:0,0:145,41:3,99:0,29:NM_015189.1(EXOC6B) c.1980+16_1980+17insCT,NM_015189.1(EXOC6B) c.1980+16_1980+17insCT:1,1:0.996086,0.996086 2 72692469 . C . . NT END=72707744;NT GT ./. 2 72707880 . C . . NT END=72719446;NT GT ./. 2 72719559 . C . . NT END=72722558;NT GT ./. 2 72722669 . C . . NT END=72723582;NT GT ./. 2 72723689 . C . . NT END=72725582;NT GT ./. 2 72725681 . C . . NT END=72727029;NT GT ./. 2 72725735 rs200519482 G GT 13 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9864,T/0.01358;NP=1;NP=4;NP=6;Gene=EXOC6B/NM_015189.1/1;CC=c.1240-56dupA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:G,GT,D:18:4:6:2:12,5,1:383,179,65:0.00,12.98,2.21:0.00,1.29,-0.04:0.00,11.69,2.25:0.00,0.85,0.00:0.00,0.69,0.00:0.00,0.99,0.00:60,60,60:14.8,39.0,11.0:0,2,1:0,0,0:127,74,116:23,76,34:20,31,4:-,NM_015189.1(EXOC6B) c.1240-56_1240-55insA:-,NOT_FOUND:-,NOT_FOUND 2 72727102 . C . . NT END=72740260;NT GT ./. 2 72740382 . C . . NT END=72741762;NT GT ./. 2 72741728 rs367736783 TAA T 30 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=64;PC=0.006;Gene=EXOC6B/NM_015189.1/1;CC=c.1046+33_1046+34delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAA,T:21:16:0:11:11,10:342,319:0.00,30.38:0.00,17.08:0.00,13.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.1,54.3:2,0:0,0:109,60:41,90:34,12:-,NM_015189.1(EXOC6B) c.1046+33_1046+34delTT:-,NOT_FOUND:-,NOT_FOUND 2 72741734 rs71337705 A T 66 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2839,T/0.7161;PC=0.031;Gene=EXOC6B/NM_015189.1/1;CC=c.1046+29T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A,T:19:15:0:2:1,18:34,588:0.00,65.68:0.00,35.23:0.00,30.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,56.5:0,11:0,0:115,66:35,84:0,22:NM_015189.1(EXOC6B) c.1046+29T>A,NM_015189.1(EXOC6B) c.1046+29T>A:0.7,0.7:NOT_FOUND,NOT_FOUND 2 72741810 . C . . NT END=72742171;NT GT ./. 2 72742083 rs57089571 GAC G 45 idl,rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=228;Gene=EXOC6B/NM_015189.1/1;CC=c.999+87_999+88delGT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,C,GAC,G:20:21:0:15:1,2,4,13:12,50,144,495:0.39,3.73,0.00,44.78:0.40,3.75,0.00,37.77:-0.01,-0.02,0.00,7.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.97:60,60,60,70:82.0,66.0,0.0,2.5:0,0,0,2:0,0,0,0:126,7,131,30:25,144,19,121:0,0,7,17:-,NM_015189.1(EXOC6B) c.999+87_999+88delGT:-,NOT_FOUND:-,NOT_FOUND 2 72742256 . C . . NT END=72742564;NT GT ./. 2 72742904 . g . . NT END=72786581;NT GT ./. 2 72745612 rs545930779 GGT G 13 sb,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=191;PC=0.001;Gene=EXOC6B/NM_015189.1/1;CC=c.916-3359_916-3358delAC;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GGT,G:5:5:0:4:1,4:33,118:0.00,12.62:0.00,11.18:0.00,1.44:0.00,0.96:0.00,0.96:0.00,0.97:60,60:9.0,40.2:0,0:0,0:43,44:50,105:0,3:-,NM_015189.1(EXOC6B) c.916-3359_916-3358delAC:-,NOT_FOUND:-,NOT_FOUND 2 72786651 . C . . NT END=72802620;NT GT ./. 2 72802798 . C . . NT END=72945231;NT GT ./. 2 72828296 rs112858944 T C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3017,C/0.6983;PC=0.003;Gene=EXOC6B/NM_015189.1/1;CC=c.670-25499A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:1:0:0:3,1:74,32:7.79,0.00:1.93,0.00:5.86,0.00:0.85,0.00:0.83,0.00:0.85,0.00:60,60:117.3,114.0:0,0:0,0:107,146:41,5:7,0:NM_015189.1(EXOC6B) c.670-25499A>G,-:0.64,-:NOT_FOUND,- 2 72893931 . C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;PC=0.047;Gene=EXOC6B/NM_015189.1/1;CC=c.669+51301G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:3:0:0:2,2:71,67:0.00,6.45:0.00,6.90:0.00,-0.45:0.00,0.51:0.00,0.89:0.00,0.79:60,60:67.0,55.0:0,0:0,0:93,96:39,49:25,22:-,NM_015189.1(EXOC6B) c.669+51301G>A:-,NOT_FOUND:-,NOT_FOUND 2 72945437 . C . . NT END=72958135;NT GT ./. 2 72958022 rs5832088 T TAAG 51 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.07228,TAAG/0.9277;DB;DBA=NA;PAF=T/0.07228,TAAG/0.9277;NP=1006;Gene=EXOC6B/NM_015189.1/1;CC=c.464+111_464+113dupCTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:TAAG:14:13:14:0:14:439:50.57:46.90:3.68:1.00:1.00:1.00:60:6.1:0:0:33:117:19:NM_015189.1(EXOC6B) c.464+113_464+114insCTT,NM_015189.1(EXOC6B) c.464+113_464+114insCTT:0.92,0.92:NOT_FOUND,NOT_FOUND 2 72958182 . C . . NT END=72958283;NT GT ./. 2 72958375 . C . . NT END=72960199;NT GT ./. 2 72960248 . C . . NT END=72968432;NT GT ./. 2 72968599 . C . . NT END=73052926;NT GT ./. 2 73053098 . C . . NT END=73114561;NT GT ./. 2 73072156 rs6739002 C T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.08566,T/0.9143;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:44.4:0:0:26:125:12:chr2 g.73072155C>T (intergenic),chr2 g.73072155C>T (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 73114352 rs1876487 A C 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4097,C/0.5903 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:C,T:14:14:0:0:13,1:389,10:44.64,0.45:44.64,0.45:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.3,85.0:0,0:0,0:44,92:107,58:35,0:NM_003124.4(SPR) c.-50-u160A>C,NM_003124.4(SPR) c.-50-u160A>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 73114866 . G . . NT END=73115442;NT GT ./. 2 73115734 . G . . NT END=73118475;NT GT ./. 2 73115997 rs6730083 G A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1504,A/0.8496;Gene=SPR/NM_003124.4/1;CC=c.595+264G>A;VC=Intron;DM=SPR/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:108:12.63:0.00:12.63:1.00:0.00:1.00:60:39.0:0:0:89:62:9:NM_003124.4(SPR) c.595+264G>A,NM_003124.4(SPR) c.595+264G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 73118667 . G . . NT END=73144981;NT GT ./. 2 73145502 . G . . NT END=73151437;NT GT ./. 2 73145739 rs115608752 C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9844,T/0.01558;Gene=EMX1/NM_004097.2/1;CC=c.520+238C>T;VC=Intron;DM=EMX1/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:0:0:0:1,3:35,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,33.0:0,0:0,0:102,50:49,101:0,19:-,NM_004097.2(EMX1) c.520+238C>T:-,0.02:-,NOT_FOUND 2 73151231 rs1561247 C T 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.01178,T/0.9882;Gene=EMX1/NM_004097.2/1;CC=c.521-207C>T;VC=Intron;DM=EMX1/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:586:68.99:68.99:0.00:1.00:1.00:0.00:60:53.4:0:0:40:109:24:NM_004097.2(EMX1) c.521-207C>T,NM_004097.2(EMX1) c.521-207C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 73151623 . G . . NT END=73152567;NT GT ./. 2 73153482 . A . . NT END=73160915;NT GT ./. 2 73161084 . G . . NT END=73172150;NT GT ./. 2 73172229 . C . . NT END=73188259;NT GT ./. 2 73188378 . C . . NT END=73195576;NT GT ./. 2 73195663 . C . . NT END=73198698;NT GT ./. 2 73195837 rs72142987 TTTCC T 26 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TTTCC/0.3425,T/0.6575;DB;DBA=NA;PAF=TTTCC/0.3425,T/0.6575;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TTTCC/0.3425,T/0.6575;DB;DBA=NA;PAF=TTTCC/0.3425,T/0.6575;NP=78;PC=0.002;Gene=SFXN5/NM_144579.2/1;CC=c.742-179_742-176delGGAA;VC=Intron;DM=SFXN5/Mtc;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:TTTCC,T:11:0:0:8:3,8:96,245:0.00,25.52:0.00,0.00:0.00,25.52:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.3,18.8:0,0:0,0:143,99:8,51:4,18:-,NM_144579.2(SFXN5) c.742-179_742-176delGGAA:-,0.65:-,NOT_FOUND 2 73198815 . C . . NT END=73215386;NT GT ./. 2 73209094 rs397872542 TTG T 13 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TTG/0.2109,T/0.7891;DB;DBA=NA;PAF=TTG/0.2109,T/0.7891;NP=247;PC=0.001;Gene=SFXN5/NM_144579.2/1;CC=c.625+6291_625+6292delCA;VC=Intron;DM=SFXN5/Mtc;DM=SFXN5/Mtc;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:107:12.59:10.91:1.69:1.00:1.00:1.00:70:42.5:0:0:8:142:6:NM_144579.2(SFXN5) c.625+6291_625+6292delCA,NM_144579.2(SFXN5) c.625+6291_625+6292delCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 73215478 . C . . NT END=73226077;NT GT ./. 2 73215574 rs142364939 G A 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=6;PC=0.002;Gene=SFXN5/NM_144579.2/1;CC=c.535-97C>T;VC=Intron;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:3:0:0:9,13:304,377:28.24,0.00:-0.57,0.00:28.81,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:58.4,1.0:0,0:0,0:80,108:49,43:22,31:NM_144579.2(SFXN5) c.535-97C>T,-:0.0014,-:NOT_FOUND,- 2 73226144 . C . . NT END=73227559;NT GT ./. 2 73226510 rs2421096 T C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.02875,C/0.9712;Gene=SFXN5/NM_144579.2/1;CC=c.469-367A>G;VC=Intron;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:118:13.71:0.00:13.71:1.00:0.00:1.00:60:47.2:0:0:122:22:7:NM_144579.2(SFXN5) c.469-367A>G,NM_144579.2(SFXN5) c.469-367A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 73227617 . C . . NT END=73228653;NT GT ./. 2 73228708 . C . . NT END=73247367;NT GT ./. 2 73247394 . C . . NT END=73249650;NT GT ./. 2 73249706 . C . . NT END=73250316;NT GT ./. 2 73250344 . C . . NT END=73267982;NT GT ./. 2 73268061 . C . . NT END=73285656;NT GT ./. 2 73277517 . GCA G 16 nt VT=DEL;SST=Single;DP=7;NP=410;PC=0.056;Gene=SFXN5/NM_144579.2/1;CC=c.171+8138_171+8139delTG;VC=Intron;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:GCA,G:7:6:0:5:2,5:68,150:0.00,15.56:0.00,8.43:0.00,7.13:0.00,0.98:0.00,1.00:0.00,1.00:60,60:84.0,36.2:2,0:0,0:36,54:108,97:10,13:-,NM_144579.2(SFXN5) c.171+8138_171+8139delTG:-,NOT_FOUND:-,NOT_FOUND 2 73277523 rs62147754 A G 14 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6593,G/0.3407;NP=7;PC=0.092;Gene=SFXN5/NM_144579.2/1;CC=c.171+8134T>C;VC=Intron;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc;DM=SFXN5/Mtc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,G:5:4:0:2:1,4:12,136:0.00,14.46:0.00,9.35:0.00,5.11:0.00,0.96:0.00,1.00:0.00,1.00:60,60:13.0,42.2:1,4:0,0:45,35:106,116:0,25:-,NM_144579.2(SFXN5) c.171+8134T>C:-,NOT_FOUND:-,NOT_FOUND 2 73285726 . C . . NT END=73286222;NT GT ./. 2 73287002 . t . . NT END=73298732;NT GT ./. 2 73298835 . G . . NT END=73302648;NT GT ./. 2 73302602 rs200527807 G A 75 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=13;Gene=RAB11FIP5/NM_015470.2/1;CC=c.*47C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:55:0:0:25,34:801,1075:74.58,0.00:58.08,0.00:16.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,8.9:0,0:0,0:36,47:115,97:24,29:NM_015470.2(RAB11FIP5) c.*47C>T,-:0.0005,-:0.000693,- 2 73302853 . C . . NT END=73303120;NT GT ./. 2 73303311 . C . . NT END=73306778;NT GT ./. 2 73306586 rs10202837 C A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.006789,A/0.9932;PC=0.001;Gene=RAB11FIP5/NM_015470.2/1;CC=c.1569-3276G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:188:21.66:21.66:0.00:1.00:1.00:0.00:60:36.3:0:0:46:103:6:NM_015470.2(RAB11FIP5) c.1569-3276G>T,NM_015470.2(RAB11FIP5) c.1569-3276G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 73308792 . C . . NT END=73315177;NT GT ./. 2 73315878 . C . . NT END=73316006;NT GT ./. 2 73316444 . C . . NT END=73339474;NT GT ./. 2 73339430 rs4143146 T G 224 nt VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.1186,G/0.8814;Gene=RAB11FIP5/NM_015470.2/1;CC=c.431+45A>C;VC=Intron;DM=RAB11FIP5/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:G:64:57:0:0:64:1935:223.86:162.79:61.07:1.00:1.00:1.00:60:40.2:0:0:30:117:20:NM_015470.2(RAB11FIP5) c.431+45A>C,NM_015470.2(RAB11FIP5) c.431+45A>C:0.87,0.87:0.886778,0.886778 2 73339708 rs1864488 G A 604 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=G/0.4794,A/0.5206;PC=0.988;Gene=RAB11FIP5/NM_015470.2/1;CC=c.198C>T;ProtCh=p.C66=;VC=Silent;DM=RAB11FIP5/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:176:125:0:0:174,1,1:5235,8,10:603.78,0.03,0.00:337.83,0.03,0.00:265.94,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.5,142.0,58.0:0,0,0:0,0,0:76,130,119:74,21,32:36,0,0:NM_015470.2(RAB11FIP5) c.198C>T (p.(=)),NM_015470.2(RAB11FIP5) c.198C>T (p.(=)):0.52,0.52:0.569611,0.569611 2 73339906 . G . . NT END=73429794;NT GT ./. 2 73354268 rs13018842 A C 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4583,C/0.5417;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:278:31.62:25.80:5.82:1.00:1.00:1.00:60:48.4:0:0:72:79:27:chr2 g.73354267A>C (intergenic),chr2 g.73354267A>C (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 2 73354310 rs70963153 AACAC A 12 sb,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=6;PC=0.003;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:AACAC,A:8:6:0:5:4,4:122,161:0.00,12.18:0.00,-1.02:0.00,13.20:0.00,0.85:0.00,0.96:0.00,0.94:60,60:43.5,81.0:0,1:0,0:114,66:37,77:7,20:-,chr2 g.73354311_73354314delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 73354371 rs13019020 A T 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4497,T/0.5503;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:2:0:0:6:177:20.52:3.78:16.74:1.00:1.00:1.00:60:61.7:0:0:111:18:17:chr2 g.73354370A>T (intergenic),chr2 g.73354370A>T (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 2 73430177 . G . . NT END=73435527;NT GT ./. 2 73435743 . G . . NT END=73437898;NT GT ./. 2 73438058 . A . . NT END=73441394;NT GT ./. 2 73441991 . G . . NT END=73445988;NT GT ./. 2 73446098 . G . . NT END=73447178;NT GT ./. 2 73447319 . G . . NT END=73447788;NT GT ./. 2 73447911 . G . . NT END=73448292;NT GT ./. 2 73448363 . G . . NT END=73448953;NT GT ./. 2 73449059 . G . . NT END=73449882;NT GT ./. 2 73449946 . G . . NT END=73450163;NT GT ./. 2 73450235 . G . . NT END=73450553;NT GT ./. 2 73450661 . G . . NT END=73451074;NT GT ./. 2 73451132 . G . . NT END=73451993;NT GT ./. 2 73452089 . G . . NT END=73452758;NT GT ./. 2 73452830 . G . . NT END=73452923;NT GT ./. 2 73453075 . T . . NT END=73455581;NT GT ./. 2 73455703 . C . . NT END=73455922;NT GT ./. 2 73456091 . C . . NT END=73456588;NT GT ./. 2 73456699 . C . . NT END=73457240;NT GT ./. 2 73457342 . C . . NT END=73460221;NT GT ./. 2 73460289 . C . . NT END=73461506;NT GT ./. 2 73461513 . G . . NT END=73462677;NT GT ./. 2 73462774 . g . . NT END=73466770;NT GT ./. 2 73466925 . G . . NT END=73467564;NT GT ./. 2 73467672 . G . . NT END=73470131;NT GT ./. 2 73470258 . G . . NT END=73471124;NT GT ./. 2 73471178 . G . . NT END=73471671;NT GT ./. 2 73471193 rs11289471 GT G 15 idl,rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=10;PC=0.998;Gene=CCT7/NM_001009570.2/0;CC=c.7-3680delT;VC=Intron;Gene=CCT7/NM_001166284.1/0;CC=c.185+33delT;VC=Intron;Gene=CCT7/NM_001166285.1/1;CC=c.314+33delT;VC=Intron;Gene=CCT7/NM_006429.3/0;CC=c.446+33delT;VC=Intron;Gene=CCT7/NR_029402.1/0;VC=NonCoding;Gene=CCT7/NR_029403.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:GT,I,G:47:31:8:7:35,6,6:1077,228,221:0.00,12.51,14.60:0.00,8.56,6.02:0.00,3.95,8.59:0.00,0.00,0.85:0.00,0.00,0.94:0.00,0.00,0.93:60,60,60:23.5,55.8,26.0:0,2,1:0,0,0:98,73,70:34,53,81:23,33,9:-,NM_006429.3(CCT7) c.446+17delT:-,NOT_FOUND:-,NOT_FOUND 2 73471844 . G . . NT END=73474889;NT GT ./. 2 73475055 . G . . NT END=73476118;NT GT ./. 2 73476308 . G . . NT END=73476946;NT GT ./. 2 73476417 rs74843370 G GT 9 rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=5;Gene=CCT7/NM_001009570.2/0;CC=c.360+122dupT;VC=Intron;Gene=CCT7/NM_001166284.1/0;CC=c.711+122dupT;VC=Intron;Gene=CCT7/NM_001166285.1/1;CC=c.840+122dupT;VC=Intron;Gene=CCT7/NM_006429.3/0;CC=c.972+122dupT;VC=Intron;Gene=CCT7/NR_029402.1/0;VC=NonCoding;Gene=CCT7/NR_029403.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:G,GT,D:30:2:4:1:25,4,1:693,123,33:0.00,9.17,1.94:0.00,-0.06,1.13:0.00,9.23,0.80:0.00,0.64,0.00:0.00,0.37,0.00:0.00,0.95,0.00:60,60,60:14.6,11.0,0.0:0,0,0:0,0,0:112,69,133:39,81,18:22,9,0:-,NM_006429.3(CCT7) c.972+110_972+111insT:-,NOT_FOUND:-,NOT_FOUND 2 73477045 . G . . NT END=73477433;NT GT ./. 2 73477567 . G . . NT END=73478353;NT GT ./. 2 73478561 . G . . NT END=73479767;NT GT ./. 2 73479990 . G . . NT END=73486109;NT GT ./. 2 73486173 . C . . NT END=73486308;NT GT ./. 2 73486425 . C . . NT END=73487516;NT GT ./. 2 73487676 . C . . NT END=73487867;NT GT ./. 2 73487987 . C . . NT END=73490340;NT GT ./. 2 73490437 . C . . NT END=73490805;NT GT ./. 2 73490585 . TA T 10 rn VT=DEL;SST=Single;DP=19;NP=3;PC=0.073;Gene=FBXO41/NM_001080410.2/1;CC=c.2076-150delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:TA,T:18:9:0:5:14,4:383,161:0.00,10.48:0.00,8.49:0.00,1.99:0.00,0.72:0.00,0.84:0.00,0.86:60,60:16.4,5.8:0,1:0,0:70,89:80,60:30,39:-,NM_001080410.2(FBXO41) c.2076-150delT:-,NOT_FOUND:-,NOT_FOUND 2 73490959 . C . . NT END=73491065;NT GT ./. 2 73491182 . C . . NT END=73491405;NT GT ./. 2 73491648 . C . . NT END=73492409;NT GT ./. 2 73491683 rs4852916 G A 181 nt VT=SNV;PN=A;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.7364,A/0.2636;PC=0.015;Gene=FBXO41/NM_001080410.2/1;CC=c.1565-36C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:95:39:0:0:55,40:1829,1255:181.14,0.00:41.05,0.00:140.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,9.2:0,0:0,0:92,101:53,45:25,32:NM_001080410.2(FBXO41) c.1565-36C>T,-:0.25,-:0.226957,- 2 73492222 rs7587036 T C 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7871,C/0.2129;Gene=FBXO41/NM_001080410.2/1;CC=c.1564+188A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:152:17.55:17.55:0.00:1.00:1.00:0.00:60:38.8:0:0:25:126:11:NM_001080410.2(FBXO41) c.1564+188A>G,NM_001080410.2(FBXO41) c.1564+188A>G:0.2,0.2:NOT_FOUND,NOT_FOUND 2 73492614 rs526106 A T 260 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=193;DB;DBA=NA;PAF=A/0.6697,T/0.3303;PC=0.998;Gene=FBXO41/NM_001080410.2/1;CC=c.1360T>A;ProtCh=p.S454T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:193:130:0:0:103,1,89:3276,11,2754:0.00,-0.16,260.22:0.00,-0.12,121.01:0.00,-0.04,139.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.0,18.0,36.1:0,0,0:0,0,0:75,24,78:76,127,67:40,0,32:-,NM_001080410.2(FBXO41) c.1360T>A (p.Ser454Thr):-,0.33:-,0.263362 2 73492769 . C . . NT END=73493020;NT GT ./. 2 73493095 . C . . NT END=73493584;NT GT ./. 2 73493811 . C . . NT END=73495853;NT GT ./. 2 73496759 . g . . NT END=73518584;NT GT ./. 2 73519910 . C . . NT END=73520309;NT GT ./. 2 73520755 . T . . NT END=73613140;NT GT ./. 2 73613031 rs55889738 T TGGA 25 rn VT=INS;SST=Single;DP=32;DB;DBA=in-clinvar;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=35;PC=1.000;Gene=ALMS1/NM_015120.4/1;CC=c.74_75insGGA;ProtCh=p.E28_A29insE;VC=InFrameIns;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TGGA,D:32:31:9:1:1,21,9,1:11,591,290,33:0.03,0.00,25.35,1.99:0.05,0.00,22.84,2.01:-0.02,0.00,2.51,-0.02:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.74,0.00:60,60,60,60:38.0,38.0,21.1,48.0:0,0,0,0:0,0,0,0:103,56,25,21:48,81,126,130:0,29,12,0:-,NM_015120.4(ALMS1) c.=:-,NOT_FOUND:-,NOT_FOUND 2 73613324 . A . . NT END=73635749;NT GT ./. 2 73635876 . G . . NT END=73646250;NT GT ./. 2 73635991 . TC T 9 nt VT=DEL;SST=Single;DP=21;Gene=ALMS1/NM_015120.4/1;CC=c.450+117delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:TC,T:21:4:0:7:16,5:446,117:0.00,9.09:0.00,-0.41:0.00,9.50:0.00,0.85:0.00,0.67:0.00,0.98:60,70:39.9,55.2:5,0:0,0:122,44:24,107:18,11:-,NM_015120.4(ALMS1) c.453+117delC:-,NOT_FOUND:-,NOT_FOUND 2 73646447 . G . . NT END=73649984;NT GT ./. 2 73650103 . G . . NT END=73651557;NT GT ./. 2 73650122 rs1881246 T A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4673,A/0.5327;Gene=ALMS1/NM_015120.4/1;CC=c.764+20T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:8:0:0:8,8:266,259:25.60,0.00:6.93,0.00:18.66,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:45.0,7.9:0,0:0,0:99,129:44,22:18,5:NM_015120.4(ALMS1) c.767+20T>A,-:0.54,-:0.502775,- 2 73651389 rs1881248 A G 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1236,G/0.8764;PC=0.003;Gene=ALMS1/NM_015120.4/1;CC=c.765-169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,G:14:14:0:0:4,10:128,342:0.00,35.33:0.00,35.33:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.5,48.3:0,0:0,0:58,43:92,107:17,20:-,NM_015120.4(ALMS1) c.768-169A>G:-,0.86:-,NOT_FOUND 2 73652031 . G . . NT END=73653580;NT GT ./. 2 73653682 . G . . NT END=73659325;NT GT ./. 2 73659420 . G . . NT END=73675089;NT GT ./. 2 73674900 rs397738420 AT A 8 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=225;PC=0.011;Gene=ALMS1/NM_015120.4/1;CC=c.1433-187delT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:AT,A:13:12:0:3:10,3:306,97:0.00,8.08:0.00,3.72:0.00,4.36:0.00,0.58:0.00,0.92:0.00,0.51:60,60:19.5,4.7:0,0:0,0:45,10:104,138:32,8:-,NM_015120.4(ALMS1) c.1436-189delT:-,0.54:-,NOT_FOUND 2 73675019 rs66492706 CT C 51 rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=1404;Gene=ALMS1/NM_015120.4/1;CC=c.1433-64delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:40:33:0:17:23,17:799,543:0.00,50.56:0.00,35.94:0.00,14.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,6.9:0,0:0,0:74,60:76,83:22,19:-,NM_015120.4(ALMS1) c.1436-70delT:-,0.6:-,NOT_FOUND 2 73675227 rs587621330 T TCTC 96 PASS VT=INS;SST=Single;DP=60;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2803;PC=0.981;Gene=ALMS1/NM_015120.4/1;CC=c.1571_1573dupCTC;ProtCh=p.S524_L525insP;VC=InFrameIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCTC:60:37:32:0:1,27,32:13,854,985:0.09,0.00,96.09:0.19,0.00,50.96:-0.10,0.00,45.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.0,3.0,5.9:0,0,0:0,0,0:0,82,61:151,69,90:0,47,38:-,NM_015120.4(ALMS1) c.=:-,NOT_FOUND:-,0.550787 2 73675669 rs2037814 T G 157 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=T/0.1278,G/0.8722;PC=0.002;Gene=ALMS1/NM_015120.4/1;CC=c.2012T>G;ProtCh=p.V671G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:106:69:0:0:51,55:1649,1659:157.39,0.00:79.73,0.00:77.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,10.4:0,0:0,0:88,72:60,79:41,41:NM_015120.4(ALMS1) c.2018T>G (p.Val673Gly),-:0.86,-:0.880566,- 2 73675844 rs7598901 C T 133 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.4736,T/0.5264;Gene=ALMS1/NM_015120.4/1;CC=c.2187C>T;ProtCh=p.F729=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:101:64:0:0:2,55,44:41,1713,1419:1.29,0.00,133.33:0.59,0.00,65.84:0.69,0.00,67.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:74.0,6.2,35.0:0,0,0:0,0,0:98,70,61:35,78,90:33,31,40:-,NM_015120.4(ALMS1) c.2193C>T (p.(=)):-,0.54:-,0.494807 2 73681530 . A . . NT END=73682288;NT GT ./. 2 73682423 . G . . NT END=73716760;NT GT ./. 2 73716617 rs56136045 C G 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.072;Gene=ALMS1/NM_015120.4/1;CC=c.7672-144C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,G:15:15:0:0:6,9:142,280:0.00,27.94:0.00,27.94:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.8,36.4:0,0:0,0:53,25:97,126:40,21:-,NM_015120.4(ALMS1) c.7678-144C>G:-,0.05:-,NOT_FOUND 2 73716810 rs3820700 G A 123 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.8732,A/0.1268;PC=1.000;Gene=ALMS1/NM_015120.4/1;CC=c.7721G>A;ProtCh=p.S2574N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:83:69:0:0:41,42:1284,1337:123.01,0.00:83.79,0.00:39.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,14.3:0,0:0,0:93,73:57,69:32,24:NM_015120.4(ALMS1) c.7727G>A (p.Ser2576Asn),-:0.14,-:0.120129,- 2 73717103 rs2017116 G C 111 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.864,A/.,C/0.136;PC=0.002;Gene=ALMS1/NM_015120.4/1;CC=c.8014G>C;ProtCh=p.D2672H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:86:47:0:0:37,49:1193,1592:111.41,0.00:60.53,0.00:50.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,3.9:0,0:0,0:36,72:115,73:23,43:NM_015120.4(ALMS1) c.8020G>C (p.Asp2674His),-:0.15,-:0.128935,- 2 73718626 . G . . NT END=73746901;NT GT ./. 2 73747144 . G . . NT END=73761950;NT GT ./. 2 73762077 . G . . NT END=73777393;NT GT ./. 2 73777565 . G . . NT END=73784346;NT GT ./. 2 73784482 . G . . NT END=73786098;NT GT ./. 2 73786270 . G . . NT END=73799388;NT GT ./. 2 73800552 . G . . NT END=73826527;NT GT ./. 2 73826649 . G . . NT END=73827804;NT GT ./. 2 73828009 . G . . NT END=73828321;NT GT ./. 2 73828310 rs1320374 T C 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.4471,C/0.5529;PC=0.330;Gene=ALMS1/NM_015120.4/1;CC=c.11870-12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:84:63:0:0:34,1,49:1052,8,1688:96.98,-0.19,0.00:66.31,-0.16,0.00:30.66,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.5,228.0,4.5:0,0,0:0,0,0:46,19,82:100,123,66:29,0,33:NM_015120.4(ALMS1) c.11876-12T>C,-:0.56,-:0.515006,- 2 73828538 rs1052161 G A 171 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.4177,A/0.5823;Gene=ALMS1/NM_015120.4/1;CC=c.12086G>A;ProtCh=p.R4029K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:125:76:0:0:55,70:1820,2345:170.99,0.00:56.45,0.00:114.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,3.9:0,0:0,0:75,83:64,58:34,29:NM_015120.4(ALMS1) c.12092G>A (p.Arg4031Lys),-:0.58,-:0.53661,- 2 73828564 . G . . NT END=73829311;NT GT ./. 2 73829496 . G . . NT END=73830367;NT GT ./. 2 73830432 . G . . NT END=73835601;NT GT ./. 2 73835702 . G . . NT END=73836694;NT GT ./. 2 73836740 . C . . NT END=73868071;NT GT ./. 2 73853001 rs11684039 G C 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1717,C/0.8283 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,C,G:8:6:0:0:1,4,3:11,132,100:0.54,13.00,0.00:0.66,4.91,0.00:-0.12,8.09,0.00:0.00,0.99,0.00:0.00,0.98,0.00:0.00,0.99,0.00:60,60,60:133.0,57.5,22.3:0,0,0:0,0,0:87,55,70:64,38,60:0,14,0:chr2 g.73853000G>C (intergenic),-:0.81,-:NOT_FOUND,- 2 73867897 rs1879662 A G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1575,G/0.8425;PC=0.009;Gene=NAT8/NM_003960.3/1;CC=c.*175T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,G:15:15:0:0:11,4:340,136:0.00,11.74:0.00,11.74:0.00,0.00:0.00,0.76:0.00,0.76:0.00,0.00:60,60:4.3,34.0:0,0:0,0:40,48:109,101:13,19:-,NM_003960.3(NAT8) c.*175T>C:-,0.83:-,NOT_FOUND 2 73868756 . G . . NT END=73927748;NT GT ./. 2 73870929 rs4852311 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1651,A/0.8349 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:4:0:0:3,1:107,33:11.15,0.00:7.50,0.00:3.65,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:35.7,0.0:0,0:0,0:99,2:33,113:14,0:NM_003960.3(NAT8) c.-167-u1392C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 73898118 rs7570683 C T 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4539,T/0.5461;Gene=ALMS1P/NR_003683.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:26:21:0:0:12,1,13:396,10,439:0.00,0.10,42.59:0.00,0.16,25.97:0.00,-0.07,16.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:2.3,169.0,34.6:0,0,0:0,0,0:36,110,37:113,37,111:19,0,18:-,NR_003683.2(ALMS1P) n.237-89C>T:-,0.55:-,NOT_FOUND 2 73898359 rs4341964 G A 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4479,A/0.5521;PC=0.006;Gene=ALMS1P/NR_003683.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:5:0:0:11,12:357,372:34.04,0.00:2.99,0.00:31.05,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:45.9,15.2:0,0:0,0:104,126:46,25:39,16:NR_003683.2(ALMS1P) n.307+82G>A,-:0.55,-:NOT_FOUND,- 2 73898420 rs2421582 A G 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4271,G/0.5729;PC=0.691;Gene=ALMS1P/NR_003683.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,G:9:0:0:0:5,4:162,139:0.00,13.12:0.00,0.00:0.00,13.12:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,68.5:0,0:0,0:69,117:81,33:29,6:-,NR_003683.2(ALMS1P) n.307+143A>G:-,0.59:-,NOT_FOUND 2 73899613 rs2421585 T G 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.1597,G/0.8403;PC=0.001;Gene=ALMS1P/NR_003683.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:12:0:0:15,16:500,533:47.82,0.00:4.06,0.00:43.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.4,5.2:0,0:0,0:86,92:50,58:29,42:NR_003683.2(ALMS1P) n.485T>G,-:0.84,-:NOT_FOUND,- 2 73899719 rs2421586 C T 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4495,T/0.5505;Gene=ALMS1P/NR_003683.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:12:2:0:0:8,4:260,132:0.00,11.79:0.00,-0.35:0.00,12.14:0.00,0.80:0.00,0.63:0.00,0.97:60,60:2.8,59.0:0,0:0,0:108,128:42,23:20,3:-,NR_003683.2(ALMS1P) n.494+97C>T:-,0.56:-,NOT_FOUND 2 73900844 rs7579068 C G 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1791,G/0.8209;Gene=ALMS1P/NR_003683.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,G:8:8:0:0:3,5:100,163:0.00,16.39:0.00,14.50:0.00,1.89:0.00,0.97:0.00,0.97:0.00,0.75:60,60:0.0,55.4:0,0:0,0:53,25:93,92:31,6:-,NR_003683.2(ALMS1P) n.738-96C>G:-,0.81:-,NOT_FOUND 2 73927931 rs4852974 A G 287 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=A/0.2334,C/.,G/0.7666;PC=0.876;Gene=NAT8B/NM_016347.2/1;CC=c.502T>C;ProtCh=p.*168Qext*0;VC=Readthrough;Gene=NAT8B/NR_132338.1/0;VC=NonCoding;DM=NAT8B/Acetyltransf_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:161:104:0:0:70,91:2237,2911:0.00,286.60:0.00,150.49:0.00,136.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,39.7:0,0:0,0:79,70:68,75:41,39:-,NM_016347.2(NAT8B) c.=:-,0.74:-,0.74927 2 73928098 rs2001490 C G 283 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=192;DB;DBA=NA;PAF=C/0.4227,G/0.5773;PC=0.841;Gene=NAT8B/NM_016347.2/1;CC=c.335G>C;ProtCh=p.G112A;VC=Missense;Gene=NAT8B/NR_132338.1/0;VC=NonCoding;DM=NAT8B/Acetyltransf_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:192:127:0:0:101,91:3298,2972:0.00,282.87:0.00,128.82:0.00,154.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,43.1:0,0:0,0:71,76:78,69:29,28:-,NM_016347.2(NAT8B) c.335G>C (p.Gly112Ala):-,0.58:-,0.561126 2 73928366 rs2012574 G C 249 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=NA;Gene=NAT8B/NM_016347.2/1;CC=c.67C>G;ProtCh=p.R23G;VC=Missense;Gene=NAT8B/NR_132338.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:171:97:0:0:84,87:2601,2674:248.71,0.00:108.21,0.00:140.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,7.9:0,0:0,0:77,76:68,75:29,37:NM_016347.2(NAT8B) c.67C>G (p.Arg23Gly),-:0.56,-:0.531438,- 2 73928433 . G . . NT END=73956297;NT GT ./. 2 73930595 rs200900547 A G 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:5:0:0:3,2:78,69:0.00,6.39:0.00,2.98:0.00,3.42:0.00,0.46:0.00,0.46:0.00,0.80:60,60:48.0,146.5:1,1:0,0:58,47:42,64:25,20:-,NM_016347.2(NAT8B) c.-35-u2128T>C:-,NOT_FOUND:-,NOT_FOUND 2 73956114 rs12713793 T C 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4289,A/.,C/0.5711;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:20:20:0:0:1,10,9:10,332,275:0.16,32.25,0.00:0.16,32.25,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:112.0,55.4,3.8:0,0,0:0,0,0:21,48,65:130,96,83:0,39,47:chr2 g.73956113T>C (intergenic),-:0.59,-:NOT_FOUND,- 2 73956433 . c . . NT END=73956956;NT GT ./. 2 73956436 rs36138587 C CAA 17 sb;idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=7;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,C,CAA:29:20:12:0:7,16,6:139,388,393:10.87,0.00,16.77:0.86,0.00,15.94:10.01,0.00,0.83:0.00,0.00,0.89:0.00,0.00,0.94:0.00,0.00,0.91:60,60,60:61.0,20.3,12.3:2,0,6:0,0,0:37,134,92:70,15,58:37,16,24:-,chr2 g.73956436_73956437insAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 73956633 rs536196504 TTTTTTTTTTTTTTGG T 8 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=191;PC=0.058;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:TTTTTTTTTTTTTTGG,T:14:0:0:3:11,3:362,96:0.00,7.87:0.00,0.00:0.00,7.87:0.00,0.56:0.00,0.00:0.00,0.56:60,60:44.8,11.3:2,0:0,0:58,99:93,51:26,19:-,chr2 g.73956634_73956648delTTTTTTTTTTTTTGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 73956648 rs2969598 G T 29 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=96;PC=0.058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:G,T,I:10:0:1:4:1,8,1:35,271,33:0.00,29.44,2.73:0.00,0.00,0.00:0.00,29.44,2.73:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:68.0,56.5,44.0:0,2,0:0,0,0:13,52,119:132,98,32:0,16,0:-,chr2 g.73956647G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 73956744 rs13020517 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.4293,T/0.5707 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:17:5:0:0:1,8,8:15,242,240:0.59,0.00,22.96:-0.05,0.00,9.50:0.65,0.00,13.46:0.00,0.00,0.99:0.00,0.00,0.95:0.00,0.00,1.00:60,60,60:49.0,28.9,74.8:0,0,0:0,0,0:107,114,55:43,36,91:0,34,36:-,chr2 g.73956743C>T (intergenic):-,0.58:-,NOT_FOUND 2 73956846 rs12713794 A G 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3359,G/0.6641;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:21:0:0:10,13:307,436:0.00,42.96:0.00,36.01:0.00,6.96:0.00,1.00:0.00,1.00:0.00,0.84:60,60:10.4,76.2:0,0:0,0:51,31:100,120:26,23:-,chr2 g.73956845A>G (intergenic):-,0.66:-,NOT_FOUND 2 73956881 rs12997568 T C 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.4123,C/0.5877;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:22:0:0:12,12:388,391:37.28,0.00:29.27,0.00:8.00,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:72.2,8.7:0,0:0,0:54,65:97,72:12,27:chr2 g.73956880T>C (intergenic),-:0.59,-:NOT_FOUND,- 2 73956940 rs67805162 CT C 35 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=CT/0.4038,C/0.5962;NP=80;PC=0.005;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:35:33:0:16:23,12:693,515:0.00,35.02:0.00,22.97:0.00,12.05:0.00,1.00:0.00,1.00:0.00,0.99:60,60:28.6,49.4:0,4:0,0:56,56:82,71:41,24:-,chr2 g.73956941delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 73957124 rs7210 A G 52 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.4293,C/.,G/0.5707;PC=1.000;Gene=TPRKB/NM_016058.2/1;CC=c.474T>C;ProtCh=p.I158=;VC=Silent;DM=TPRKB/CGI-121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:10:0:0:21,18:633,554:0.00,52.30:0.00,9.16:0.00,43.14:0.00,1.00:0.00,0.99:0.00,1.00:60,60:11.8,44.9:0,0:0,0:88,80:60,71:25,25:-,NM_016058.2(TPRKB) c.474T>C (p.(=)):-,0.59:-,0.566383 2 73957157 . C . . NT END=73957686;NT GT ./. 2 73957227 rs13003035 T A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4784,A/0.5216;PC=0.001;Gene=TPRKB/NM_016058.2/1;CC=c.442-71A>T;VC=Intron;DM=TPRKB/CGI-121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,T:12:0:0:0:7,5:217,172:21.47,0.00:0.00,0.00:21.47,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:64.4,2.4:0,0:0,0:60,108:90,43:21,22:NM_016058.2(TPRKB) c.442-71A>T,-:0.54,-:NOT_FOUND,- 2 73957864 . C . . NT END=73959289;NT GT ./. 2 73959413 . C . . NT END=73961555;NT GT ./. 2 73961311 rs4358149 T C 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3968,C/0.6032;Gene=TPRKB/NM_016058.2/1;CC=c.141+245A>G;VC=Intron;DM=TPRKB/CGI-121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:C,T:8:8:0:0:3,5:73,167:6.42,0.00:6.42,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:54.0,25.0:0,0:0,0:30,53:121,98:22,30:NM_016058.2(TPRKB) c.141+245A>G,-:0.61,-:NOT_FOUND,- 2 73961697 . T . . NT END=73989787;NT GT ./. 2 73989987 . C . . NT END=73993544;NT GT ./. 2 73993436 rs553128210 CA C 20 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=487;Gene=DUSP11/NM_003584.2/1;CC=c.935+108delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,CA,I,C:17:17:3:8:1,6,3,7:31,187,97,240:2.18,0.00,8.32,19.99:2.20,0.00,8.40,20.20:-0.03,0.00,-0.08,-0.21:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.59:60,60,60,60:63.0,20.3,4.3,10.3:0,0,0,1:0,0,0,0:1,87,72,33:150,60,78,118:0,36,31,21:-,NM_003584.2(DUSP11) c.935+108delT:-,NOT_FOUND:-,NOT_FOUND 2 73993722 . C . . NT END=73993954;NT GT ./. 2 73994031 . C . . NT END=73994287;NT GT ./. 2 73994074 rs2567599 G A 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.04832,A/0.9517;Gene=DUSP11/NM_003584.2/1;CC=c.683-44C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:13:0:0:13,10:399,346:39.21,0.00:21.76,0.00:17.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.1,7.5:0,0:0,0:75,114:73,32:36,18:NM_003584.2(DUSP11) c.683-44C>T,-:0.95,-:0.93164,- 2 73994335 . C . . NT END=73995550;NT GT ./. 2 73995823 . c . . NT END=73996391;NT GT ./. 2 73996453 . C . . NT END=74000926;NT GT ./. 2 74000701 rs2116367 C T 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3472,T/0.6528;Gene=DUSP11/NM_003584.2/1;CC=c.574+226G>A;VC=Intron;DM=DUSP11/DSPc;DM=DUSP11/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:11:11:0:0:4,7:105,211:0.00,21.32:0.00,21.32:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.0,38.9:0,0:0,0:31,82:120,68:23,19:-,NM_003584.2(DUSP11) c.574+226G>A:-,0.65:-,NOT_FOUND 2 74001051 . C . . NT END=74002039;NT GT ./. 2 74002172 . C . . NT END=74005427;NT GT ./. 2 74005504 . C . . NT END=74007000;NT GT ./. 2 74007136 rs2272051 T C 292 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=173;DB;DBA=NA;PAF=T/0.3904,C/0.6096;Gene=DUSP11/NM_003584.2/1;CC=c.107A>G;ProtCh=p.D36G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:173:113:0:0:91,1,81:3003,8,2581:291.98,-0.17,0.00:152.78,-0.09,0.00:139.20,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.6,67.0,9.3:0,0,0:0,0,0:90,5,74:52,146,75:29,0,33:NM_003584.2(DUSP11) c.107A>G (p.Asp36Gly),-:0.62,-:0.600723,- 2 74007243 . G . . NT END=74011436;NT GT ./. 2 74007345 rs3813228 A G 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.378,G/0.622 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:67:23:0:0:32,1,34:1047,9,1008:0.00,-0.10,97.07:0.00,0.08,25.47:0.00,-0.18,71.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.8,17.0,41.7:0,0,0:0,0,0:117,147,112:28,3,37:25,0,30:-,NM_001080474.1(C2orf78) c.-121-u3971A>G:-,0.63:-,NOT_FOUND 2 74011534 . G . . NT END=74035865;NT GT ./. 2 74035880 rs11675635 A G 312 lc VT=SNV;PN=C;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=NA;PC=0.985;Gene=C2orf78/NM_001080474.1/1;CC=c.98-4724A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:87:68:0:0:87:2711:311.85:173.13:138.72:1.00:1.00:1.00:59:39.7:0:0:69:77:28:NM_001080474.1(C2orf78) c.98-4724A>G,NM_001080474.1(C2orf78) c.98-4724A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 74036029 . G . . NT END=74040603;NT GT ./. 2 74041354 . G . . NT END=74042197;NT GT ./. 2 74044120 . G . . NT END=74057983;NT GT ./. 2 74058187 . G . . NT END=74071939;NT GT ./. 2 74072164 . G . . NT END=74072293;NT GT ./. 2 74072390 . G . . NT END=74074513;NT GT ./. 2 74074881 . G . . NT END=74076489;NT GT ./. 2 74076615 . G . . NT END=74077502;NT GT ./. 2 74076622 rs202168066 G GA 20 rn VT=INS;SST=Single;DP=105;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9611,GA/0.03894;NP=22;NP=3;PC=0.855;Gene=STAMBP/NM_201647.2/1;CC=c.867+18dupA;VC=Intron;Gene=STAMBP/NM_006463.4/0;CC=c.867+18dupA;VC=Intron;Gene=STAMBP/NM_213622.2/0;CC=c.867+18dupA;VC=Intron;DM=STAMBP/JAB;DM=STAMBP/JAB;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,G,GA,D:105:43:9:2:2,92,9,2:53,2984,288,65:2.10,0.00,19.93,3.25:-0.20,0.00,6.57,0.78:2.30,0.00,13.35,2.47:0.00,0.00,0.96,0.00:0.00,0.00,0.92,0.00:0.00,0.00,1.00,0.00:60,60,60,60:113.5,14.8,7.7,0.0:0,0,0,0:0,0,0,0:56,105,110,112:77,39,41,33:48,24,17,9:-,NM_201647.2(STAMBP) c.867+8_867+9insA:-,0.05:-,0.033946 2 74077641 . G . . NT END=74086380;NT GT ./. 2 74079829 rs189222426 C T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9948,T/0.005192;NP=14;PC=0.050;Gene=STAMBP/NM_201647.2/1;CC=c.1005+2189C>T;VC=Intron;Gene=STAMBP/NM_006463.4/0;CC=c.1005+2189C>T;VC=Intron;Gene=STAMBP/NM_213622.2/0;CC=c.1005+2189C>T;VC=Intron;DM=STAMBP/JAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T:9:9:0:0:5,4:165,127:0.00,11.92:0.00,11.92:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:6.0,36.2:0,0:0,0:77,61:74,90:21,6:-,NM_201647.2(STAMBP) c.1005+2189C>T:-,0.01:-,NOT_FOUND 2 74079972 rs55727735 T TTG 14 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.1733,TTG/0.569;DB;DBA=NA;PAF=NA;NP=2;NP=78;PC=0.020;Gene=STAMBP/NM_201647.2/1;CC=c.1005+2369_1005+2370insGT;VC=Intron;Gene=STAMBP/NM_006463.4/0;CC=c.1005+2369_1005+2370insGT;VC=Intron;Gene=STAMBP/NM_213622.2/0;CC=c.1005+2369_1005+2370insGT;VC=Intron;DM=STAMBP/JAB;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:T,TTG,D:12:10:7:1:6,5,1:192,214,34:0.00,14.00,2.54:0.00,9.23,2.59:0.00,4.77,-0.05:0.00,0.90,0.00:0.00,0.98,0.00:0.00,0.88,0.00:60,70,60:32.8,34.0,0.0:0,2,0:0,0,0:86,37,52:49,114,99:30,8,0:-,NM_201647.2(STAMBP) c.1005+2332_1005+2333insTG:-,NOT_FOUND:-,NOT_FOUND 2 74086494 . G . . NT END=74087178;NT GT ./. 2 74087279 . G . . NT END=74087660;NT GT ./. 2 74087717 . G . . NT END=74089329;NT GT ./. 2 74089266 rs371779071 GA G 13 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=60;Gene=STAMBP/NM_201647.2/1;CC=c.1219-50delA;VC=Intron;Gene=STAMBP/NM_006463.4/0;CC=c.1219-50delA;VC=Intron;Gene=STAMBP/NM_213622.2/0;CC=c.1219-50delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,GA,I,G:26:21:2:7:1,18,2,5:34,581,58,159:2.16,0.00,3.91,13.04:-0.20,0.00,4.11,7.57:2.36,0.00,-0.21,5.47:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.89:60,60,60,70:74.0,19.3,12.0,17.0:1,0,0,0:0,0,0,0:63,42,26,16:88,108,124,135:0,22,21,16:-,NM_201647.2(STAMBP) c.1219-63delA:-,NOT_FOUND:-,NOT_FOUND 2 74089387 . G . . NT END=74128438;NT GT ./. 2 74128361 rs1653258 T G 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5329,G/0.4671;PC=0.003;Gene=ACTG2/NM_001199893.1/0;CC=c.-36-42T>G;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.-36-42T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:30:0:0:12,18:411,566:38.07,0.00:33.03,0.00:5.04,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:137.8,65.1:0,0:0,0:23,30:127,118:11,23:NM_001615.3(ACTG2) c.-36-42T>G,-:0.51,-:NOT_FOUND,- 2 74128369 rs1632564 G A 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.5315,A/0.4685;Gene=ACTG2/NM_001199893.1/0;CC=c.-36-34G>A;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.-36-34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:36:0:0:16,20:491,686:45.97,0.00:37.34,0.00:8.63,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:123.0,68.0:0,0:0,0:18,29:133,121:14,21:NM_001615.3(ACTG2) c.-36-34G>A,-:0.51,-:NOT_FOUND,- 2 74128391 rs1721241 G C 175 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.2995,A/.,C/0.7005;Gene=ACTG2/NM_001199893.1/0;CC=c.-36-12G>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.-36-12G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:C,G,T:51:50:0:0:49,1,1:1543,22,11:175.38,0.00,0.22:148.76,0.00,0.22:26.62,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,33,60:83.8,206.0,78.0:0,0,0:0,0,0:31,4,22:116,143,129:17,0,0:NM_001615.3(ACTG2) c.-36-12G>C,NM_001615.3(ACTG2) c.-36-12G>C:0.73,0.73:0.763955,0.763955 2 74128433 rs1050146 C T 304 nt VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.2921,T/0.7079;PC=0.014;Gene=ACTG2/NM_001199893.1/0;CC=c.-6C>T;VC=5UTR;Gene=ACTG2/NM_001615.3/1;CC=c.-6C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:81:75:0:0:81:2655:304.12:232.56:71.56:1.00:1.00:1.00:60:74.6:0:0:56:90:27:NM_001615.3(ACTG2) c.-6C>T,NM_001615.3(ACTG2) c.-6C>T:0.73,0.73:0.762802,0.762802 2 74128565 . G . . NT END=74129486;NT GT ./. 2 74128660 rs111608790 TG T 65 nt VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=TG/0.8516,T/0.1484;NP=669;PC=0.021;Gene=ACTG2/NM_001199893.1/0;CC=c.126+97delG;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.126+97delG;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:48:8:0:23:26,22:878,726:0.00,65.31:0.00,4.48:0.00,60.83:0.00,1.00:0.00,0.98:0.00,1.00:60,60:8.8,8.1:0,1:0,0:102,111:25,24:14,20:-,NM_001615.3(ACTG2) c.126+97delG:-,NOT_FOUND:-,NOT_FOUND 2 74128685 rs376018484 G C 9 idl;end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5024,C/0.4976;NP=431;PC=0.002;Gene=ACTG2/NM_001199893.1/0;CC=c.126+121G>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.126+121G>C;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,G:4:1:0:6:3,1:81,29:8.55,0.00:3.25,0.00:5.30,0.00:0.85,0.00:0.83,0.00:0.99,0.00:60,60:43.3,31.0:0,0:0,0:146,149:3,2:0,0:NM_001615.3(ACTG2) c.126+121G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 74128714 rs4852320 C T 19 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2646,T/0.7354;NP=767;Gene=ACTG2/NM_001199893.1/0;CC=c.126+150C>T;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.126+150C>T;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:2:5:168:19.18:0.00:19.18:1.00:0.00:1.00:60:5.8:4:0:66:85:16:NM_001615.3(ACTG2) c.126+150C>T,NM_001615.3(ACTG2) c.126+150C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 74129389 rs7586415 T C 54 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8325,C/0.1675;Gene=ACTG2/NM_001199893.1/0;CC=c.126+825T>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.127-98T>C;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:24:0:0:16,9:539,289:54.44,0.00:49.09,0.00:5.35,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:47.8,28.0:0,0:0,0:66,31:81,120:36,9:NM_001615.3(ACTG2) c.127-98T>C,-:0.17,-:NOT_FOUND,- 2 74129474 rs1726025 T C 101 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.4371,C/0.5629;Gene=ACTG2/NM_001199893.1/0;CC=c.126+910T>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.127-13T>C;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:56:0:0:32,32:1049,960:100.91,0.00:75.98,0.00:24.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,17.3:0,0:0,0:56,36:92,113:28,25:NM_001615.3(ACTG2) c.127-13T>C,-:0.57,-:0.55682,- 2 74129616 . G . . NT END=74135799;NT GT ./. 2 74129664 rs1653256 A G 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.4375,G/0.5625;Gene=ACTG2/NM_001199893.1/0;CC=c.126+1100A>G;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.255+49A>G;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:61:23:0:0:38,23:1229,775:0.00,70.93:0.00,13.13:0.00,57.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,48.0:0,0:0,0:106,114:42,36:17,22:-,NM_001615.3(ACTG2) c.255+49A>G:-,0.57:-,0.556974 2 74129712 rs1721243 C G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.4565,G/0.5435;Gene=ACTG2/NM_001199893.1/0;CC=c.126+1148C>G;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.255+97C>G;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:6:0:0:24,13:771,413:0.00,37.08:0.00,4.98:0.00,32.10:0.00,1.00:0.00,0.91:0.00,1.00:60,60:5.7,57.8:0,0:0,0:119,123:28,28:25,10:-,NM_001615.3(ACTG2) c.255+97C>G:-,0.55:-,NOT_FOUND 2 74135732 rs702460 G A 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4281,A/0.5719;Gene=ACTG2/NM_001199893.1/0;CC=c.127-68G>A;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.256-68G>A;VC=Intron;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G:20:20:0:0:13,7:368,174:37.36,0.00:34.38,0.00:2.98,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:58.4,0.0:0,0:0,0:46,93:103,58:29,32:NM_001615.3(ACTG2) c.256-68G>A,-:0.59,-:NOT_FOUND,- 2 74135797 rs702461 T C 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.4241,C/0.5759;PC=0.657;Gene=ACTG2/NM_001199893.1/0;CC=c.127-3T>C;VC=Intergenic;Gene=ACTG2/NM_001615.3/1;CC=c.256-3T>C;VC=Intergenic;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:43:0:0:25,23:749,790:72.30,0.00:45.64,0.00:26.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.7,8.0:0,0:0,0:48,40:86,105:29,18:NM_001615.3(ACTG2) c.256-3T>C,-:0.59,-:0.594726,- 2 74135898 rs756128 A G 82 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.4281,G/0.5719;PC=1.000;Gene=ACTG2/NM_001199893.1/0;CC=c.225A>G;ProtCh=p.E75=;VC=Silent;Gene=ACTG2/NM_001615.3/1;CC=c.354A>G;ProtCh=p.E118=;VC=Silent;DM=ACTG2/Actin;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:31:0:0:26,25:813,855:0.00,82.09:0.00,30.29:0.00,51.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.1,51.7:0,0:0,0:105,85:43,64:21,34:-,NM_001615.3(ACTG2) c.354A>G (p.(=)):-,0.59:-,0.589958 2 74135911 . G . . NT END=74136181;NT GT ./. 2 74136267 . G . . NT END=74140611;NT GT ./. 2 74140581 rs891699 A T 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.4006,T/0.5994;Gene=ACTG2/NM_001199893.1/0;CC=c.323-31A>T;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.452-31A>T;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:68:60:0:0:39,29:1231,921:0.00,85.76:0.00,60.75:0.00,25.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,38.2:0,0:0,0:57,51:94,97:34,33:-,NM_001615.3(ACTG2) c.452-31A>T:-,0.61:-,0.619714 2 74140774 . G . . NT END=74141806;NT GT ./. 2 74140789 rs891698 T C 75 nt VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.4,C/0.6;Gene=ACTG2/NM_001199893.1/0;CC=c.484+16T>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.613+16T>C;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:21:0:0:25,32:805,989:75.48,0.00:25.62,0.00:49.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,10.7:0,0:0,0:103,100:36,51:23,26:NM_001615.3(ACTG2) c.613+16T>C,-:0.61,-:0.619637,- 2 74140888 rs891697 A C 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.498,C/0.502;Gene=ACTG2/NM_001199893.1/0;CC=c.484+115A>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.613+115A>C;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:2:0:0:10,9:329,303:0.00,28.89:0.00,2.81:0.00,26.07:0.00,1.00:0.00,0.77:0.00,1.00:60,60:1.0,54.1:0,0:0,0:102,100:49,50:40,38:-,NM_001615.3(ACTG2) c.613+115A>C:-,0.52:-,NOT_FOUND 2 74141999 . G . . NT END=74143710;NT GT ./. 2 74142164 rs397755154 GA G 22 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=GA/0.3423,G/0.6577;DB;DBA=NA;PAF=GA/0.3423,G/0.6577;NP=331;PC=0.006;Gene=ACTG2/NM_001199893.1/0;CC=c.676+171delA;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.805+171delA;VC=Intron;DM=ACTG2/Actin;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:GA,G:14:0:0:8:6,8:185,224:0.00,22.06:0.00,0.00:0.00,22.06:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.5,36.5:0,0:0,0:76,71:66,63:33,37:-,NM_001615.3(ACTG2) c.805+167delA:-,NOT_FOUND:-,NOT_FOUND 2 74143378 rs1726026 T C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.527,C/0.473;PC=0.032;Gene=ACTG2/NM_001199893.1/0;CC=c.677-333T>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.806-333T>C;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:121:14.01:10.33:3.68:1.00:1.00:1.00:60:62.2:0:0:59:92:32:NM_001615.3(ACTG2) c.806-333T>C,NM_001615.3(ACTG2) c.806-333T>C:0.48,0.48:NOT_FOUND,NOT_FOUND 2 74143438 rs1726027 G T 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5296,T/0.4704;PC=0.005;Gene=ACTG2/NM_001199893.1/0;CC=c.677-273G>T;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.806-273G>T;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:159:18.71:14.94:3.78:1.00:1.00:1.00:60:55.8:0:0:43:107:39:NM_001615.3(ACTG2) c.806-273G>T,NM_001615.3(ACTG2) c.806-273G>T:0.48,0.48:NOT_FOUND,NOT_FOUND 2 74143501 . GA G 10 idl,rn VT=DEL;SST=Single;DP=6;Gene=ACTG2/NM_001199893.1/0;CC=c.677-194delA;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.806-194delA;VC=Intron;DM=ACTG2/Actin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:GA,G:4:6:0:5:1,3:29,155:0.00,9.53:0.00,9.53:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:63.0,74.0:0,2:0,0:137,64:13,87:0,11:-,NM_001615.3(ACTG2) c.806-209delA:-,NOT_FOUND:-,NOT_FOUND 2 74143570 rs1653253 A C 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.524,C/0.476;PC=0.135;Gene=ACTG2/NM_001199893.1/0;CC=c.677-141A>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.806-141A>C;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:510:59.51:59.51:0.00:1.00:1.00:0.00:60:53.4:0:0:60:89:35:NM_001615.3(ACTG2) c.806-141A>C,NM_001615.3(ACTG2) c.806-141A>C:0.49,0.49:NOT_FOUND,NOT_FOUND 2 74143893 . G . . NT END=74146558;NT GT ./. 2 74143990 rs1622752 T A 169 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.5298,A/0.4702;PC=0.275;Gene=ACTG2/NM_001199893.1/0;CC=c.858+98T>A;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.987+98T>A;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:A:45:1:0:0:45:1480:169.39:2.04:167.35:1.00:1.00:1.00:60:55.9:0:0:107:43:27:NM_001615.3(ACTG2) c.987+98T>A,NM_001615.3(ACTG2) c.987+98T>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 74144040 rs1726028 G A 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5315,A/0.4685;Gene=ACTG2/NM_001199893.1/0;CC=c.858+148G>A;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.987+148G>A;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:0:0:0:23:732:84.06:0.00:84.06:1.00:0.00:1.00:60:84.2:0:0:95:56:29:NM_001615.3(ACTG2) c.987+148G>A,NM_001615.3(ACTG2) c.987+148G>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 74144110 rs1623605 A C 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5218,C/0.4782;Gene=ACTG2/NM_001199893.1/0;CC=c.858+218A>C;VC=Intron;Gene=ACTG2/NM_001615.3/1;CC=c.987+218A>C;VC=Intron;DM=ACTG2/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:329:37.67:0.00:37.67:1.00:0.00:1.00:60:98.8:0:0:125:25:14:NM_001615.3(ACTG2) c.987+218A>C,NM_001615.3(ACTG2) c.987+218A>C:0.49,0.49:NOT_FOUND,NOT_FOUND 2 74146703 . A . . NT END=74154037;NT GT ./. 2 74146869 rs1721238 G A 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3936,A/0.6064 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:219:25.63:0.00:25.63:1.00:0.00:1.00:60:58.8:0:0:69:78:24:NM_080916.2(DGUOK) c.-85-u7084G>A,NM_080916.2(DGUOK) c.-85-u7084G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 74153905 rs831526 C T 230 nt VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.004792,T/0.9952 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:G,T:66:65:0:0:1,65:9,1998:0.11,230.26:0.11,220.99:0.00,9.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,38.8:0,0:0,0:23,58:128,93:0,31:NM_080916.2(DGUOK) c.-85-u48C>T,NM_080916.2(DGUOK) c.-85-u48C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 74154180 . G . . NT END=74159724;NT GT ./. 2 74159811 . G . . NT END=74166036;NT GT ./. 2 74165856 rs831527 G A 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5062,A/0.4938;PC=0.001;Gene=DGUOK/NM_080916.2/1;CC=c.143-181G>A;VC=Intron;Gene=DGUOK/NM_080918.2/0;CC=c.143-181G>A;VC=Intron;DM=DGUOK/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:319:37.05:37.05:0.00:1.00:1.00:0.00:60:37.4:0:0:52:99:28:NM_080916.2(DGUOK) c.143-181G>A,NM_080916.2(DGUOK) c.143-181G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 2 74166150 . G . . NT END=74173845;NT GT ./. 2 74173656 rs1523828 A C 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3666,C/0.6334;Gene=DGUOK/NM_080916.2/1;CC=c.256-190A>C;VC=Intron;Gene=DGUOK/NM_080918.2/0;CC=c.256-190A>C;VC=Intron;DM=DGUOK/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:251:28.90:28.90:0.00:1.00:1.00:0.00:60:48.2:0:0:31:119:22:NM_080916.2(DGUOK) c.256-190A>C,NM_080916.2(DGUOK) c.256-190A>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 74174034 . G . . NT END=74177711;NT GT ./. 2 74174145 rs940297 A G 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.371,G/0.629;Gene=DGUOK/NM_080916.2/1;CC=c.443+112A>G;VC=Intron;Gene=DGUOK/NM_080918.2/0;CC=c.443+112A>G;VC=Intron;DM=DGUOK/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:0:0:0:28:944:107.75:0.00:107.75:1.00:0.00:1.00:60:36.8:0:0:112:39:24:NM_080916.2(DGUOK) c.443+112A>G,NM_080916.2(DGUOK) c.443+112A>G:0.62,0.62:NOT_FOUND,NOT_FOUND 2 74177860 . G . . NT END=74184251;NT GT ./. 2 74178080 rs7564379 T C 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.361,C/0.639;Gene=DGUOK/NM_080916.2/1;CC=c.591+221T>C;VC=Intron;Gene=DGUOK/NM_080918.2/0;CC=c.443+4047T>C;VC=Intron;DM=DGUOK/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C:13:0:0:0:13:350:41.02:0.00:41.02:1.00:0.00:1.00:60:31.9:0:0:74:77:47:NM_080916.2(DGUOK) c.591+221T>C,NM_080916.2(DGUOK) c.591+221T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 74184368 . G . . NT END=74185272;NT GT ./. 2 74184573 rs2002711 G A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5857,A/0.4143;PC=0.001;Gene=DGUOK/NM_080916.2/1;CC=c.707+206G>A;VC=Intron;Gene=DGUOK/NM_080918.2/0;CC=c.444-700G>A;VC=Intron;DM=DGUOK/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:A,C,G:10:0:0:0:5,1,4:165,11,123:16.18,0.46,0.00:0.00,0.00,0.00:16.18,0.46,0.00:0.95,0.00,0.00:0.00,0.00,0.00:0.95,0.00,0.00:60,60,60:51.0,120.0,10.8:0,0,0:0,0,0:84,31,113:67,119,37:31,0,27:NM_080916.2(DGUOK) c.707+206G>A,-:0.43,-:NOT_FOUND,- 2 74185373 . G . . NT END=74185836;NT GT ./. 2 74185864 . C . . NT END=74213530;NT GT ./. 2 74185876 rs4777 A T 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4692,T/0.5308;Gene=DGUOK/NM_080916.2/1;CC=c.*13A>T;VC=3UTR;Gene=DGUOK/NM_080918.2/0;CC=c.*13A>T;VC=3UTR;Gene=DGUOK-AS1/NR_104029.1/0;VC=NonCoding;Gene=DGUOK-AS1/NR_104030.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:22:0:0:14,15:462,502:0.00,48.63:0.00,18.06:0.00,30.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,37.3:0,0:0,0:90,96:51,55:29,36:-,NM_080916.2(DGUOK) c.*13A>T:-,0.54:-,0.565354 2 74213834 . G . . NT END=74230236;NT GT ./. 2 74230294 . G . . NT END=74273404;NT GT ./. 2 74230310 rs57360501 CGTGCGTGTGT C 70 nt VT=DEL;SST=Single;DP=94;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;PC=0.076;Gene=TET3/NM_001287491.1/1;CC=c.360+31_360+40delCGTGTGTGTG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGTGCGTGTGT,C:94:57:0:26:68,26:2193,819:0.00,70.28:0.00,20.21:0.00,50.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,9.0:0,0:0,0:113,80:30,59:22,23:-,chr2 g.74230311_74230320delGTGCGTGTGT (intergenic):-,0.09:-,NOT_FOUND 2 74230551 . GT G 9 rn VT=DEL;SST=Single;DP=9;NP=1;PC=0.470;Gene=TET3/NM_001287491.1/1;CC=c.360+274delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:GT,I,G:8:0:1:4:4,1,3:70,24,127:0.00,1.73,8.71:0.00,0.00,0.00:0.00,1.73,8.71:0.00,0.00,0.64:0.00,0.00,0.00:0.00,0.00,0.64:60,60,60:73.0,35.0,4.0:0,0,1:0,0,0:128,67,96:22,83,54:17,0,13:-,chr2 g.74230552delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 74273240 rs6754218 A G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8433,G/0.1567;PC=0.005;Gene=TET3/NM_001287491.1/1;CC=c.361-165A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:8:8:0:0:3,5:67,132:0.00,13.26:0.00,13.26:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:79.0,30.8:0,0:0,0:87,59:63,92:28,11:-,NM_144993.1(TET3) c.1-u210A>G:-,0.18:-,NOT_FOUND 2 74273383 rs79144580 T TC 146 nt VT=INS;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.7286,TC/0.2714;DB;DBA=NA;PAF=NA;NP=1310;Gene=TET3/NM_001287491.1/1;CC=c.361-17dupC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TC:92:85:49:0:43,49:1274,1502:0.00,146.09:0.00,121.39:0.00,24.70:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.8,12.1:3,0:0,0:32,37:113,109:25,26:-,NM_144993.1(TET3) c.1-u67_1-u66insC:-,0.28:-,NOT_FOUND 2 74275539 . G . . NT END=74300675;NT GT ./. 2 74300717 rs7560668 T C 87 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.6404,C/0.3596;PC=1.000;Gene=TET3/NM_001287491.1/1;CC=c.2536T>C;ProtCh=p.L846=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:49:0:0:27,30:912,969:86.98,0.00:47.65,0.00:39.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,11.5:0,0:0,0:69,84:72,63:28,38:NM_144993.1(TET3) c.2131T>C (p.(=)),-:0.36,-:0.41504,- 2 74300767 . G . . NT END=74307624;NT GT ./. 2 74307719 . G . . NT END=74314956;NT GT ./. 2 74307833 rs12328541 T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7981,G/0.2019;NP=340;Gene=TET3/NM_001287491.1/1;CC=c.2679+115T>G;VC=Intron;DM=TET3/Tet_JBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:G,T:5:0:0:0:3,2:76,33:7.56,0.00:0.00,0.00:7.56,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:79.7,164.0:0,0:0,0:63,83:63,66:14,54:NM_144993.1(TET3) c.2274+115T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 74314761 rs13013211 G T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8712,T/0.1288;PC=0.004;Gene=TET3/NM_001287491.1/1;CC=c.2680-196G>T;VC=Intron;DM=TET3/Tet_JBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:G,T:15:15:0:0:9,6:298,170:0.00,15.46:0.00,15.46:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:7.6,36.0:0,0:0,0:39,33:112,117:17,12:-,NM_144993.1(TET3) c.2275-196G>T:-,0.16:-,NOT_FOUND 2 74315166 . G . . NT END=74317023;NT GT ./. 2 74317175 . G . . NT END=74320028;NT GT ./. 2 74320119 . G . . NT END=74320655;NT GT ./. 2 74320262 rs12713810 C G 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7033,G/0.2967;PC=0.001;Gene=TET3/NM_001287491.1/1;CC=c.3129+144C>G;VC=Intron;DM=TET3/Tet_JBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:3:0:0:14,13:487,395:0.00,37.55:0.00,0.88:0.00,36.68:0.00,1.00:0.00,0.87:0.00,1.00:60,60:7.7,42.5:0,0:0,0:105,123:43,27:33,18:-,NM_144993.1(TET3) c.2724+144C>G:-,0.3:-,NOT_FOUND 2 74320794 . G . . NT END=74326402;NT GT ./. 2 74321075 rs7585240 G T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8431,A/.,T/0.1569;Gene=TET3/NM_001287491.1/1;CC=c.3267+282G>T;VC=Intron;DM=TET3/Tet_JBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,G,T:7:0:0:0:1,3,3:10,102,88:0.47,0.00,8.40:0.00,0.00,0.00:0.47,0.00,8.40:0.00,0.00,0.69:0.00,0.00,0.00:0.00,0.00,0.69:60,60,60:117.0,8.3,38.3:0,0,0:0,0,0:26,118,129:116,33,22:0,26,1:-,NM_144993.1(TET3) c.2862+282G>T:-,0.18:-,NOT_FOUND 2 74326740 . G . . NT END=74327519;NT GT ./. 2 74326902 rs9309479 C T 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3868,T/0.6132;Gene=TET3/NM_001287491.1/1;CC=c.3604+163C>T;VC=Intron;DM=TET3/Tet_JBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:0:0:0:17:529:61.00:0.00:61.00:1.00:0.00:1.00:60:43.2:0:0:107:37:25:NM_144993.1(TET3) c.3199+163C>T,NM_144993.1(TET3) c.3199+163C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 2 74329304 . G . . NT END=74362648;NT GT ./. 2 74329575 rs397840978 TC T 27 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=184;Gene=TET3/NM_001287491.1/1;CC=c.*281delC;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:TC,T:11:0:0:9:2,9:38,252:0.00,27.28:0.00,0.00:0.00,27.28:0.00,1.00:0.00,0.00:0.00,1.00:60,60:87.0,11.8:0,0:0,0:99,76:32,73:45,31:-,NM_144993.1(TET3) c.*273C[8]:-,NOT_FOUND:-,NOT_FOUND 2 74362459 rs77807718 T TAGC 36 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=522;PC=0.001;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:T,TAGC:11:11:10:0:1,10:33,323:0.00,35.61:0.00,35.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,10.8:0,0:0,0:138,26:6,121:0,16:-,chr2 g.74362459_74362460insAGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 74362786 . C . . NT END=74369398;NT GT ./. 2 74369488 . C . . NT END=74372315;NT GT ./. 2 74372431 . C . . NT END=74374947;NT GT ./. 2 74375002 . G . . NT END=74383694;NT GT ./. 2 74383630 rs11540640 G A 38 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7987,A/0.2013;PC=0.729;Gene=MOB1A/NM_001317111/0;CC=c.*65C>T;VC=3UTR;Gene=MOB1A/NM_001317110/0;CC=c.*65C>T;VC=3UTR;Gene=MOB1A/NM_001317112/0;CC=c.*135C>T;VC=3UTR;Gene=MOB1A/NM_018221.3/1;CC=c.*65C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:25:0:0:12,14:399,449:37.84,0.00:36.88,0.00:0.96,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:34.4,2.1:0,0:0,0:50,56:100,95:24,36:NM_018221.3(MOB1A) c.*65C>T,-:0.2,-:NOT_FOUND,- 2 74383773 . C . . NT END=74386217;NT GT ./. 2 74383911 rs828852 G A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3774,A/0.6226;PC=0.001;Gene=MOB1A/NM_001317111/0;CC=c.700-139C>T;VC=Intron;Gene=MOB1A/NM_001317110/0;CC=c.571-139C>T;VC=Intron;Gene=MOB1A/NM_001317112/0;CC=c.410-139C>T;VC=Intron;Gene=MOB1A/NM_018221.3/1;CC=c.574-139C>T;VC=Intron;DM=MOB1A/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,G:12:0:0:0:5,7:148,235:13.64,0.00:0.00,0.00:13.64,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:65.4,0.0:0,0:0,0:112,125:38,26:16,16:NM_018221.3(MOB1A) c.574-139C>T,-:0.65,-:NOT_FOUND,- 2 74383912 rs56259334 T C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8069,C/0.1931;Gene=MOB1A/NM_001317111/0;CC=c.700-140A>G;VC=Intron;Gene=MOB1A/NM_001317110/0;CC=c.571-140A>G;VC=Intron;Gene=MOB1A/NM_001317112/0;CC=c.410-140A>G;VC=Intron;Gene=MOB1A/NM_018221.3/1;CC=c.574-140A>G;VC=Intron;DM=MOB1A/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:11:0:0:0:5,6:164,195:15.49,0.00:0.00,0.00:15.49,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:65.4,0.0:0,0:0,0:113,118:37,33:16,14:NM_018221.3(MOB1A) c.574-140A>G,-:0.18,-:NOT_FOUND,- 2 74386382 . C . . NT END=74392344;NT GT ./. 2 74386569 rs3762480 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.375,C/0.625;PC=0.043;Gene=MOB1A/NM_001317111/0;CC=c.536-188A>G;VC=Intron;Gene=MOB1A/NM_001317110/0;CC=c.407-188A>G;VC=Intron;Gene=MOB1A/NM_001317112/0;CC=c.410-2797A>G;VC=Intron;Gene=MOB1A/NM_018221.3/1;CC=c.410-188A>G;VC=Intron;DM=MOB1A/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:12:0:0:0:7,5:187,166:18.49,0.00:0.00,0.00:18.49,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:40.7,36.4:0,0:0,0:117,118:34,33:28,12:NM_018221.3(MOB1A) c.410-188A>G,-:0.65,-:NOT_FOUND,- 2 74392479 . C . . NT END=74394140;NT GT ./. 2 74394034 rs56873314 G C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.8095,C/0.1905;PC=0.103;Gene=MOB1A/NM_001317111/0;CC=c.401+107C>G;VC=Intron;Gene=MOB1A/NM_001317110/0;CC=c.272+107C>G;VC=Intron;Gene=MOB1A/NM_001317112/0;CC=c.275+107C>G;VC=Intron;Gene=MOB1A/NM_018221.3/1;CC=c.275+107C>G;VC=Intron;DM=MOB1A/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:19:19:0:0:6,13:205,413:18.22,0.00:16.43,0.00:1.79,0.00:0.94,0.00:0.94,0.00:0.54,0.00:60,60:41.3,9.0:0,0:0,0:75,27:74,124:6,25:NM_018221.3(MOB1A) c.275+107C>G,-:0.18,-:NOT_FOUND,- 2 74394235 . C . . NT END=74399712;NT GT ./. 2 74399880 . C . . NT END=74405787;NT GT ./. 2 74405802 . C . . NT END=74425768;NT GT ./. 2 74405867 rs2272239 T G 66 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.7732,G/0.2268;PC=0.001;Gene=MOB1A/NM_001317110/0;CC=c.-66A>C;VC=5UTR;Gene=MOB1A/NM_001317112/0;CC=c.-66A>C;VC=5UTR;Gene=MOB1A/NM_018221.3/1;CC=c.-66A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:46:27:0:0:1,21,24:11,698,730:0.01,66.35,0.00:-0.08,27.20,0.00:0.09,39.15,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.0,50.8,18.1:0,0,0:0,0,0:92,108,97:59,43,44:0,18,21:NM_018221.3(MOB1A) c.-66A>C,-:0.22,-:NOT_FOUND,- 2 74405952 rs2272240 T C 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7732,C/0.2268;Gene=MOB1A/NM_001317110/0;CC=c.-151A>G;VC=5UTR;Gene=MOB1A/NM_001317112/0;CC=c.-151A>G;VC=5UTR;Gene=MOB1A/NM_018221.3/1;CC=c.-151A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:C,T:13:0:0:0:5,8:171,253:15.72,0.00:0.00,0.00:15.72,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:90.6,15.6:0,0:0,0:98,124:53,27:16,10:NM_018221.3(MOB1A) c.-151A>G,-:0.22,-:NOT_FOUND,- 2 74425427 rs56008504 C T 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8155,T/0.1845 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,T:6:6:0:0:3,3:98,70:0.00,6.59:0.00,6.59:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.7,55.3:0,0:0,0:78,81:73,70:31,44:-,NM_006636.3(MTHFD2) c.-79-u263C>T:-,0.18:-,NOT_FOUND 2 74425870 . G . . NT END=74432831;NT GT ./. 2 74425932 rs3821321 G A 33 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8179,A/0.1821;Gene=MTHFD2/NM_006636.3/1;CC=c.101+63G>A;VC=Intron;Gene=MTHFD2/NR_027405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:2:0:0:12,15:351,456:32.77,0.00:5.44,0.00:27.33,0.00:1.00,0.00:0.74,0.00:1.00,0.00:60,60:33.2,8.3:0,0:0,0:124,78:26,73:20,41:NM_006636.3(MTHFD2) c.101+63G>A,-:0.17,-:NOT_FOUND,- 2 74433017 . G . . NT END=74434830;NT GT ./. 2 74434954 . G . . NT END=74435695;NT GT ./. 2 74435849 . G . . NT END=74437068;NT GT ./. 2 74437177 . G . . NT END=74438325;NT GT ./. 2 74438419 . G . . NT END=74438867;NT GT ./. 2 74438994 . G . . NT END=74441205;NT GT ./. 2 74439071 rs71406866 C T 7 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=2;NP=3;PC=0.011;Gene=MTHFD2/NM_006636.3/1;CC=c.889+78C>T;VC=Intron;Gene=MTHFD2/NR_027405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,T,I,D:29:5:1:5:21,4,1,3:569,94,31,122:0.00,6.56,1.79,6.38:0.00,-0.12,-0.03,1.15:0.00,6.68,1.82,5.23:0.00,0.64,0.00,0.00:0.00,0.50,0.00,0.00:0.00,0.64,0.00,0.00:60,60,60,60:25.7,99.2,31.0,77.0:0,2,0,1:0,0,0,0:127,104,59,66:22,41,91,84:17,10,0,23:-,NM_006636.3(MTHFD2) c.889+78C>T:-,NOT_FOUND:-,NOT_FOUND 2 74439180 rs844169 T G 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3662,G/0.6338;Gene=MTHFD2/NM_006636.3/1;CC=c.889+187T>G;VC=Intron;Gene=MTHFD2/NR_027405.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:14:0:0:0:8,6:271,197:26.76,0.00:0.00,0.00:26.76,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.8,26.0:0,0:0,0:116,111:34,39:20,27:NM_006636.3(MTHFD2) c.889+187T>G,-:0.66,-:NOT_FOUND,- 2 74441370 . C . . NT END=74448593;NT GT ./. 2 74448629 . C . . NT END=74449994;NT GT ./. 2 74448672 rs1020485 C A 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7586,A/0.2414;Gene=SLC4A5/NM_133478.2/0;CC=c.3332-44G>T;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.3380-44G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:34:19:0:0:18,16:538,535:52.12,0.00:18.50,0.00:33.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,8.2:0,0:0,0:85,80:48,69:22,18:NM_021196.3(SLC4A5) c.3380-44G>T,-:0.21,-:0.142319,- 2 74450080 . C . . NT END=74451966;NT GT ./. 2 74450125 rs6745054 T C 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.5992,C/0.4008;PC=0.001;Gene=SLC4A5/NM_133478.2/0;CC=c.3247-46A>G;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.3295-46A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:5:0:0:17,15:561,479:54.59,0.00:6.81,0.00:47.77,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:42.5,2.2:0,0:0,0:99,121:52,30:41,23:NM_021196.3(SLC4A5) c.3295-46A>G,-:0.37,-:0.274915,- 2 74450134 . CT C 17 idl,rn VT=DEL;SST=Single;DP=28;NP=6;PC=0.001;Gene=SLC4A5/NM_133478.2/0;CC=c.3247-56delA;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.3295-56delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:CT,T,I,C:27:5:2:7:18,1,2,6:571,10,67,232:0.00,0.00,4.78,16.77:0.00,-0.05,-0.10,1.09:0.00,0.05,4.88,15.68:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.99:60,60,60,60:21.4,85.0,18.0,25.7:0,0,0,1:0,0,0,0:130,51,52,81:20,100,97,69:18,0,29,27:-,NM_021196.3(SLC4A5) c.3295-56delA:-,NOT_FOUND:-,NOT_FOUND 2 74452123 . C . . NT END=74454083;NT GT ./. 2 74454258 . C . . NT END=74454643;NT GT ./. 2 74454448 rs60003281 G C 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.764,C/0.236;Gene=SLC4A5/NM_133478.2/0;CC=c.2917-191C>G;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.2965-191C>G;VC=Intron;DM=SLC4A5/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:10:0:0:14,10:483,315:47.91,0.00:24.66,0.00:23.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,17.7:0,0:0,0:48,79:103,65:27,32:NM_021196.3(SLC4A5) c.2965-191C>G,-:0.21,-:NOT_FOUND,- 2 74454692 . c . . NT END=74454936;NT GT ./. 2 74455006 . C . . NT END=74458362;NT GT ./. 2 74458436 . C . . NT END=74459595;NT GT ./. 2 74459775 . C . . NT END=74460528;NT GT ./. 2 74460691 . C . . NT END=74462227;NT GT ./. 2 74460904 rs7571842 A G 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4347,G/0.5653;PC=0.003;Gene=SLC4A5/NM_133478.2/0;CC=c.2434-214T>C;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.2434-214T>C;VC=Intron;DM=SLC4A5/HCO3_cotransp;DM=SLC4A5/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:0:0:0:7,9:194,305:0.00,30.07:0.00,0.00:0.00,30.07:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.4,36.2:0,0:0,0:66,122:85,29:29,26:-,NM_021196.3(SLC4A5) c.2434-214T>C:-,0.58:-,NOT_FOUND 2 74462342 . C . . NT END=74466461;NT GT ./. 2 74466663 . C . . NT END=74469120;NT GT ./. 2 74466805 rs12464182 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8494,T/0.1506;Gene=SLC4A5/NM_133478.2/0;CC=c.2119-143G>A;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.2119-143G>A;VC=Intron;DM=SLC4A5/HCO3_cotransp;DM=SLC4A5/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,T:9:0:0:0:2,7:63,182:0.00,19.40:0.00,0.00:0.00,19.40:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,61.0:0,0:0,0:79,100:71,50:65,7:-,NM_021196.3(SLC4A5) c.2119-143G>A:-,0.15:-,NOT_FOUND 2 74469180 . C . . NT END=74474162;NT GT ./. 2 74474435 . C . . NT END=74475479;NT GT ./. 2 74474693 rs7558047 C G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3429,G/0.6571;PC=0.009;Gene=SLC4A5/NM_133478.2/0;CC=c.1788-259G>C;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.1788-259G>C;VC=Intron;DM=SLC4A5/HCO3_cotransp;DM=SLC4A5/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:4:0:0:0:2,2:70,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:60,60:23.5,40.5:0,0:0,0:110,90:40,60:25,16:-,NM_021196.3(SLC4A5) c.1788-259G>C:-,0.67:-,NOT_FOUND 2 74475614 . C . . NT END=74477469;NT GT ./. 2 74477645 . C . . NT END=74479305;NT GT ./. 2 74479516 . C . . NT END=74480100;NT GT ./. 2 74480256 . C . . NT END=74481745;NT GT ./. 2 74481834 . C . . NT END=74482901;NT GT ./. 2 74482892 rs7602215 T C 193 nt VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.7498,C/0.2502;Gene=SLC4A5/NM_133478.2/0;CC=c.1025+10A>G;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.1025+10A>G;VC=Intron;DM=SLC4A5/Band_3_cyto;DM=SLC4A5/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:117:98:0:0:62,55:1987,1790:193.08,0.00:129.79,0.00:63.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,6.7:0,0:0,0:55,43:92,105:30,18:NM_021196.3(SLC4A5) c.1025+10A>G,-:0.23,-:0.205751,- 2 74483060 . C . . NT END=74486714;NT GT ./. 2 74486771 . C . . NT END=74489263;NT GT ./. 2 74489360 . C . . NT END=74491273;NT GT ./. 2 74491427 . C . . NT END=74492230;NT GT ./. 2 74491616 . CGT C 8 rn VT=DEL;SST=Single;DP=12;PC=0.001;Gene=SLC4A5/NM_133478.2/0;CC=c.563-192_563-191delAC;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.563-192_563-191delAC;VC=Intron;DM=SLC4A5/Band_3_cyto;DM=SLC4A5/Band_3_cyto;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:CGT,C:11:2:0:4:8,3:168,132:0.00,8.48:0.00,-0.19:0.00,8.67:0.00,0.59:0.00,0.53:0.00,0.93:60,60:12.6,11.3:0,1:0,0:105,62:33,88:28,6:-,NM_021196.3(SLC4A5) c.563-192_563-191delAC:-,NOT_FOUND:-,NOT_FOUND 2 74491993 . C G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;NP=2;Gene=SLC4A5/NM_133478.2/0;CC=c.562+238G>C;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.562+238G>C;VC=Intron;DM=SLC4A5/Band_3_cyto;DM=SLC4A5/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,G:9:9:0:0:5,4:162,129:0.00,12.12:0.00,12.12:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:9.8,54.2:0,0:0,0:30,42:121,107:6,9:-,NM_021196.3(SLC4A5) c.562+238G>C:-,NOT_FOUND:-,NOT_FOUND 2 74492392 . C . . NT END=74512899;NT GT ./. 2 74492643 rs1006706 G T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8686,T/0.1314;Gene=SLC4A5/NM_133478.2/0;CC=c.402-252C>A;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.402-252C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:G,T:7:0:0:0:3,4:102,130:0.00,12.83:0.00,0.00:0.00,12.83:0.00,0.90:0.00,0.00:0.00,0.90:60,60:31.7,32.5:0,0:0,0:132,124:8,27:14,12:-,NM_021196.3(SLC4A5) c.402-252C>A:-,0.11:-,NOT_FOUND 2 74512808 rs12617294 G A 100 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.8528,A/0.1472;Gene=SLC4A5/NM_133478.2/0;CC=c.401+92C>T;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.401+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:48:0:0:32,19:990,619:99.59,0.00:77.55,0.00:22.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,13.9:0,0:0,0:56,62:94,89:38,36:NM_021196.3(SLC4A5) c.401+92C>T,-:0.12,-:NOT_FOUND,- 2 74513030 . C . . NT END=74517370;NT GT ./. 2 74517749 rs151284937 TGA T 15 sb;idl,rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=SLC4A5/NM_133478.2/0;CC=c.272-4722_272-4721delTC;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.272-4722_272-4721delTC;VC=Intron;DM=SLC4A5/Band_3_cyto;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:TGA,I,T:48:35:3:8:38,3,7:1003,95,236:0.00,6.26,15.15:0.00,3.10,13.53:0.00,3.16,1.62:0.00,0.00,0.92:0.00,0.00,0.98:0.00,0.00,0.93:60,60,60:25.4,14.3,10.7:0,0,1:0,0,0:93,96,37:54,55,113:29,18,31:-,NM_021196.3(SLC4A5) c.272-4722_272-4721delTC:-,NOT_FOUND:-,NOT_FOUND 2 74517833 . A . . NT END=74531615;NT GT ./. 2 74531420 rs9309483 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4734,C/0.5266;Gene=SLC4A5/NM_133478.2/0;CC=c.271+196A>G;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.271+196A>G;VC=Intron;DM=SLC4A5/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,T:12:12:0:0:5,7:160,136:14.89,0.00:14.89,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:39.2,20.1:0,0:0,0:31,59:120,92:31,12:NM_021196.3(SLC4A5) c.271+196A>G,-:0.51,-:NOT_FOUND,- 2 74531808 . C . . NT END=74542071;NT GT ./. 2 74533779 rs58494912 CT C 8 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=34;PC=0.992;Gene=SLC4A5/NM_133478.2/0;CC=c.80-1973delA;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.80-1973delA;VC=Intron;DM=SLC4A5/Band_3_cyto;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:CT,I,C:16:16:1:5:12,1,3:383,27,161:0.00,1.63,7.55:0.00,0.73,5.25:0.00,0.90,2.30:0.00,0.00,0.52:0.00,0.00,0.89:0.00,0.00,0.72:60,60,60:36.8,12.0,0.0:0,0,2:0,0,0:46,19,45:102,132,105:21,0,10:-,NM_021196.3(SLC4A5) c.80-1973delA:-,NOT_FOUND:-,NOT_FOUND 2 74534691 rs9789404 T C 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6891,C/0.3109;Gene=SLC4A5/NM_133478.2/0;CC=c.80-2884A>G;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.80-2884A>G;VC=Intron;DM=SLC4A5/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:17:0:0:9,9:289,285:27.78,0.00:23.46,0.00:4.31,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:93.0,11.6:0,0:0,0:30,21:121,129:28,14:NM_021196.3(SLC4A5) c.80-2884A>G,-:0.29,-:NOT_FOUND,- 2 74534699 rs116252692 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.9978,C/0.002196;NP=41;PC=0.202;Gene=SLC4A5/NM_133478.2/0;CC=c.80-2892A>G;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.80-2892A>G;VC=Intron;DM=SLC4A5/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:18:0:0:9,11:277,318:26.01,0.00:21.80,0.00:4.22,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:92.8,19.1:0,0:0,0:37,29:114,121:17,22:NM_021196.3(SLC4A5) c.80-2892A>G,-:0.0041,-:NOT_FOUND,- 2 74534944 rs70965795 T TG 16 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2794;Gene=SLC4A5/NM_133478.2/0;CC=c.80-3138dupC;VC=Intron;Gene=SLC4A5/NM_021196.3/1;CC=c.80-3138dupC;VC=Intron;DM=SLC4A5/Band_3_cyto;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TG:5:2:5:0:5:133:15.67:5.72:9.95:1.00:1.00:1.00:60:31.0:0:0:87:63:8:NM_021196.3(SLC4A5) c.80-3138_80-3137insC,NM_021196.3(SLC4A5) c.80-3138_80-3137insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 74542153 . C . . NT END=74555246;NT GT ./. 2 74555314 . C . . NT END=74588625;NT GT ./. 2 74588764 . C . . NT END=74589178;NT GT ./. 2 74589019 rs741788 A G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7975,G/0.2025;PC=0.029;Gene=DCTN1/NM_001135041.2/0;CC=c.3282+160T>C;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.3297+160T>C;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.3624+160T>C;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.3678+160T>C;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.3699+160T>C;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.3573+160T>C;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:18:11:0:0:14,4:449,126:0.00,10.37:0.00,4.37:0.00,6.00:0.00,0.73:0.00,0.90:0.00,0.79:60,60:7.4,37.0:0,0:0,0:62,73:88,75:37,30:-,NM_004082.4(DCTN1) c.3699+160T>C:-,0.2:-,NOT_FOUND 2 74589269 . C . . NT END=74589776;NT GT ./. 2 74589857 . C . . NT END=74590120;NT GT ./. 2 74590305 . C . . NT END=74590420;NT GT ./. 2 74590555 . C . . NT END=74590740;NT GT ./. 2 74590756 . C . . NT END=74592201;NT GT ./. 2 74592369 . C . . NT END=74592641;NT GT ./. 2 74592785 . C . . NT END=74593019;NT GT ./. 2 74593146 . C . . NT END=74593370;NT GT ./. 2 74593748 . C . . NT END=74593909;NT GT ./. 2 74594060 . C . . NT END=74594171;NT GT ./. 2 74594235 . C . . NT END=74594478;NT GT ./. 2 74594548 . C . . NT END=74594822;NT GT ./. 2 74594992 . C . . NT END=74595097;NT GT ./. 2 74595014 rs909177 G A 124 nt VT=SNV;PN=T;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.8003,A/0.1997;PC=0.923;Gene=DCTN1/NM_001135041.2/0;CC=c.1614-23C>T;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.1614-23C>T;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.1956-23C>T;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.1995-23C>T;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.2016-23C>T;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.1905-23C>T;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding;DM=DCTN1/Dynactin;DM=DCTN1/Dynactin;DM=DCTN1/Dynactin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:106:69:0:0:43,63:1348,2001:124.23,0.00:78.48,0.00:45.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,10.0:0,0:0,0:70,83:76,65:34,29:NM_004082.4(DCTN1) c.2016-23C>T,-:0.2,-:0.115408,- 2 74595259 . C . . NT END=74595854;NT GT ./. 2 74596008 . C . . NT END=74596224;NT GT ./. 2 74596168 rs397781440 G GA 132 nt VT=INS;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.6965,GA/0.3035;DB;DBA=NA;PAF=G/0.6965,GA/0.3035;NP=916;Gene=DCTN1/NM_001135041.2/0;CC=c.1299+56dupT;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.1299+56dupT;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.1641+56dupT;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.1680+56dupT;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.1701+56dupT;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.1590+56dupT;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding;DM=DCTN1/Dynactin;DM=DCTN1/Dynactin;DM=DCTN1/Dynactin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:83:50:44:0:39,44:1254,1357:0.00,131.77:0.00,76.50:0.00,55.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,5.1:0,0:0,0:70,74:81,76:44,46:-,NM_004082.4(DCTN1) c.1701+56_1701+57insT:-,0.29:-,NOT_FOUND 2 74596342 . C . . NT END=74596426;NT GT ./. 2 74596619 . C . . NT END=74597091;NT GT ./. 2 74596943 . G GAA 8 idl,rn VT=INS;SST=Single;DP=17;PC=0.001;Gene=DCTN1/NM_001135041.2/0;CC=c.990+148_990+149insTT;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.990+148_990+149insTT;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.1332+148_1332+149insTT;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.1371+148_1371+149insTT;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.1392+148_1392+149insTT;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.1281+148_1281+149insTT;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:G,GAA,D:13:17:5:4:8,3,2:274,161,126:0.00,8.10,5.46:0.00,8.10,5.46:0.00,0.00,0.00:0.00,0.53,0.00:0.00,0.53,0.00:0.00,0.00,0.00:60,60,60:26.5,146.0,103.0:0,2,2:0,0,0:43,39,74:98,108,75:25,14,25:-,NM_004082.4(DCTN1) c.1392+148_1392+149insTT:-,NOT_FOUND:-,NOT_FOUND 2 74597197 . C . . NT END=74597312;NT GT ./. 2 74597473 . C . . NT END=74597592;NT GT ./. 2 74597527 rs740277 G A 198 nt VT=SNV;PN=C;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=G/0.8017,A/0.1983;Gene=DCTN1/NM_001135041.2/0;CC=c.726-55C>T;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.726-55C>T;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.1068-55C>T;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.1107-55C>T;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.1128-55C>T;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.1017-55C>T;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:121:67:0:0:65,56:2038,1773:198.45,0.00:85.11,0.00:113.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,2.3:0,0:0,0:80,59:67,91:38,35:NM_004082.4(DCTN1) c.1128-55C>T,-:0.2,-:NOT_FOUND,- 2 74597672 . C . . NT END=74597747;NT GT ./. 2 74597953 . C . . NT END=74598105;NT GT ./. 2 74598304 . C . . NT END=74598663;NT GT ./. 2 74598856 . C . . NT END=74600054;NT GT ./. 2 74598999 rs35914551 AAAG A 12 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=AAAG/0.5479,A/0.4521;DB;DBA=NA;PAF=AAAG/0.5479,A/0.4521;NP=73;PC=0.668;Gene=DCTN1/NM_001135041.2/0;CC=c.52-147_52-145delCTT;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.52-147_52-145delCTT;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.394-147_394-145delCTT;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.433-147_433-145delCTT;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.454-147_454-145delCTT;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.343-147_343-145delCTT;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:AAAG,A:15:0:0:5:10,5:312,134:0.00,11.63:0.00,0.00:0.00,11.63:0.00,0.89:0.00,0.00:0.00,0.89:60,60:21.3,43.4:0,0:0,0:121,88:30,63:7,23:-,NM_004082.4(DCTN1) c.454-147_454-145delCTT:-,0.44:-,NOT_FOUND 2 74600076 . C . . NT END=74601449;NT GT ./. 2 74601383 . A C 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;PC=1.000;Gene=DCTN1/NM_001135041.2/0;CC=c.30+67T>G;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.30+67T>G;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.394-2528T>G;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.411+67T>G;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.432+67T>G;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.343-2528T>G;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,C:24:22:0:0:15,9:310,140:0.00,11.36:0.00,12.05:0.00,-0.69:0.00,1.00:0.00,1.00:0.00,0.90:60,60:51.8,113.2:0,0:0,0:41,112:109,39:24,26:-,NM_004082.4(DCTN1) c.432+67T>G:-,NOT_FOUND:-,NOT_FOUND 2 74601388 . A C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;PC=1.000;Gene=DCTN1/NM_001135041.2/0;CC=c.30+62T>G;VC=Intron;Gene=DCTN1/NM_023019.3/0;CC=c.30+62T>G;VC=Intron;Gene=DCTN1/NM_001135040.2/0;CC=c.394-2533T>G;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.411+62T>G;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.432+62T>G;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.343-2533T>G;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,C:25:20:0:0:19,6:422,103:0.00,7.22:0.00,7.80:0.00,-0.59:0.00,0.92:0.00,0.99:0.00,0.73:60,60:58.2,108.8:0,0:0,0:44,68:106,81:32,29:-,NM_004082.4(DCTN1) c.432+62T>G:-,NOT_FOUND:-,NOT_FOUND 2 74601863 . G . . NT END=74603868;NT GT ./. 2 74603890 . C . . NT END=74604558;NT GT ./. 2 74604594 . C . . NT END=74604774;NT GT ./. 2 74604673 rs3213672 C T 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.7067,T/0.2933;Gene=DCTN1/NM_001135040.2/0;CC=c.359-80G>A;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.359-80G>A;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.359-80G>A;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.308-80G>A;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:23:0:0:17,15:524,456:0.00,43.15:0.00,33.24:0.00,9.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,45.8:0,1:0,0:69,90:82,61:35,48:-,NM_004082.4(DCTN1) c.359-80G>A:-,0.28:-,0.183968 2 74604854 . C . . NT END=74605126;NT GT ./. 2 74604895 rs3815241 T C 72 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.8063,C/0.1937;Gene=DCTN1/NM_001135040.2/0;CC=c.280-42A>G;VC=Intron;Gene=DCTN1/NM_001190837.1/0;CC=c.280-42A>G;VC=Intron;Gene=DCTN1/NM_004082.4/1;CC=c.280-42A>G;VC=Intron;Gene=DCTN1/NM_001190836.1/0;CC=c.229-42A>G;VC=Intron;Gene=DCTN1/NR_033935.1/0;VC=NonCoding;DM=DCTN1/CAP_GLY;DM=DCTN1/CAP_GLY;DM=DCTN1/CAP_GLY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:24:0:0:22,18:730,572:71.52,0.00:30.94,0.00:40.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,5.9:0,0:0,0:95,70:49,79:24,41:NM_004082.4(DCTN1) c.280-42A>G,-:0.19,-:0.095597,- 2 74605373 . C . . NT END=74607131;NT GT ./. 2 74607165 . G . . NT END=74641455;NT GT ./. 2 74643055 . C . . NT END=74643137;NT GT ./. 2 74643369 . C . . NT END=74644508;NT GT ./. 2 74644536 . C . . NT END=74649280;NT GT ./. 2 74645676 rs148213870 G C 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.9966,C/0.003395;NP=6;PC=0.002;Gene=C2orf81/NM_001316764/0;CC=c.19-2308C>G;VC=Intron;Gene=C2orf81/NM_001316765/0;CC=c.19-2308C>G;VC=Intron;Gene=C2orf81/NM_001316766/0;CC=c.-350-2308C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:C,G:18:1:0:0:13,5:378,160:39.34,0.00:1.77,0.00:37.57,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:41.4,35.0:0,0:0,0:129,100:22,51:11,17:NM_001145054.1(C2orf81) c.-309-u832C>G,-:0.0046,-:NOT_FOUND,- 2 74649503 . G . . NT END=74649996;NT GT ./. 2 74649920 rs201792044 C CA 24 idl,nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=15;Gene=WDR54/NM_032118.2/1;CC=c.223-77_223-76insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:16:19:13:0:8,8:238,397:0.00,23.50:0.00,23.92:0.00,-0.41:0.00,0.99:0.00,1.00:0.00,0.68:60,60:42.5,101.4:1,5:0,0:64,59:79,92:62,27:-,NM_032118.2(WDR54) c.223-77_223-76insA:-,0.15:-,NOT_FOUND 2 74649921 rs371249809 C A 72 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=WDR54/NM_032118.2/1;CC=c.223-76C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,C:23:21:0:0:20,3:660,96:71.67,0.00:69.58,0.00:2.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.5,21.7:13,1:0,0:67,2:83,147:36,2:NM_032118.2(WDR54) c.223-76C>A,-:0.55,-:NOT_FOUND,- 2 74650060 . G . . NT END=74650445;NT GT ./. 2 74650513 . G . . NT END=74650604;NT GT ./. 2 74650659 . G . . NT END=74650981;NT GT ./. 2 74651110 . G . . NT END=74652001;NT GT ./. 2 74652103 . G . . NT END=74652201;NT GT ./. 2 74652365 . G . . NT END=74652543;NT GT ./. 2 74652619 . G . . NT END=74652696;NT GT ./. 2 74652829 . G . . NT END=74653369;NT GT ./. 2 74653702 . C . . NT END=74653707;NT GT ./. 2 74654122 . C . . NT END=74654295;NT GT ./. 2 74654401 . C . . NT END=74654550;NT GT ./. 2 74654720 . C . . NT END=74655394;NT GT ./. 2 74655524 . C . . NT END=74655757;NT GT ./. 2 74655865 . C . . NT END=74655974;NT GT ./. 2 74656070 . C . . NT END=74656954;NT GT ./. 2 74657165 . C . . NT END=74657378;NT GT ./. 2 74657497 . C . . NT END=74657591;NT GT ./. 2 74657646 . C . . NT END=74657742;NT GT ./. 2 74657805 . C . . NT END=74659593;NT GT ./. 2 74659794 . C . . NT END=74666677;NT GT ./. 2 74667105 . C . . NT END=74667479;NT GT ./. 2 74667711 . C . . NT END=74668832;NT GT ./. 2 74668944 . G . . NT END=74682243;NT GT ./. 2 74682302 . G . . NT END=74682532;NT GT ./. 2 74682726 . G . . NT END=74682944;NT GT ./. 2 74683064 . G . . NT END=74683229;NT GT ./. 2 74683400 . G . . NT END=74684460;NT GT ./. 2 74684992 . G . . NT END=74685610;NT GT ./. 2 74685799 . G . . NT END=74685958;NT GT ./. 2 74686047 . G . . NT END=74686123;NT GT ./. 2 74686245 . G . . NT END=74686769;NT GT ./. 2 74686873 . G . . NT END=74686999;NT GT ./. 2 74687177 . G . . NT END=74687347;NT GT ./. 2 74687809 . G . . NT END=74688401;NT GT ./. 2 74689078 rs142032474 C T 214 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=in-clinvar;PAF=C/0.9966,T/0.003395;NP=59;PC=0.002;Gene=MOGS/NM_001146158.1/0;CC=c.1520G>A;ProtCh=p.R507Q;VC=Missense;Gene=MOGS/NM_006302.2/1;CC=c.1838G>A;ProtCh=p.R613Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:153:105:0:0:83,70:2476,2261:0.00,213.71:0.00,122.19:0.00,91.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,44.1:0,0:0,0:86,64:56,84:35,35:-,NM_006302.2(MOGS) c.1838G>A (p.Arg613Gln):-,0.0046:-,0.008147 2 74690140 . C . . NT END=74690316;NT GT ./. 2 74690514 . C . . NT END=74691622;NT GT ./. 2 74691850 . C . . NT END=74692022;NT GT ./. 2 74692375 . C . . NT END=74699245;NT GT ./. 2 74699380 . C . . NT END=74699484;NT GT ./. 2 74699598 . C . . NT END=74699695;NT GT ./. 2 74699788 . G . . NT END=74701672;NT GT ./. 2 74701930 . C . . NT END=74702042;NT GT ./. 2 74702243 . C . . NT END=74702351;NT GT ./. 2 74702530 . C . . NT END=74702738;NT GT ./. 2 74702854 . C . . NT END=74707895;NT GT ./. 2 74708010 . C . . NT END=74708082;NT GT ./. 2 74708193 . C . . NT END=74708349;NT GT ./. 2 74708500 . C . . NT END=74708578;NT GT ./. 2 74708666 . C . . NT END=74708943;NT GT ./. 2 74709965 . G . . NT END=74710222;NT GT ./. 2 74710263 . G . . NT END=74710448;NT GT ./. 2 74710691 . G . . NT END=74717151;NT GT ./. 2 74717255 . G . . NT END=74717370;NT GT ./. 2 74717601 . G . . NT END=74717782;NT GT ./. 2 74717867 . G . . NT END=74718254;NT GT ./. 2 74718312 . G . . NT END=74718421;NT GT ./. 2 74718503 . G . . NT END=74718607;NT GT ./. 2 74718582 . T C 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=77;Gene=TTC31/NM_022492.4/1;CC=c.685-26T>C;VC=Intron;Gene=TTC31/NR_027749.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:C,T:77:34:0:0:12,65:199,1885:11.39,0.00:14.66,0.00:-3.27,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:126.2,20.5:0,0:0,0:83,55:52,89:23,39:NM_022492.4(TTC31) c.685-26T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 74718800 . G . . NT END=74719070;NT GT ./. 2 74719183 . G . . NT END=74719265;NT GT ./. 2 74719573 . G . . NT END=74719772;NT GT ./. 2 74720002 rs4853026 C G 596 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=160;DB;DBA=NA;PAF=C/0.005391,G/0.9946;NP=3456;PC=0.001;Gene=TTC31/NM_022492.4/1;CC=c.1264-47C>G;VC=Intron;Gene=TTC31/NR_027749.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:160:82:0:0:1,159:12,5220:0.00,595.71:0.00,228.09:0.00,367.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:80.0,44.8:0,0:0,0:22,90:129,58:0,33:NM_022492.4(TTC31) c.1264-47C>G,NM_022492.4(TTC31) c.1264-47C>G:0.99,0.99:0.985806,0.985806 2 74720346 . G . . NT END=74725053;NT GT ./. 2 74725144 rs6546908 T C 693 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=187;DB;DBA=NA;PAF=T/0.02875,C/0.9712;Gene=LBX2/NM_001282430.1/0;CC=c.507A>G;ProtCh=p.E169=;VC=Silent;Gene=LBX2/NM_001009812.1/1;CC=c.495A>G;ProtCh=p.E165=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:187:134:0:0:187:6046:693.49:382.37:311.12:1.00:1.00:1.00:60:37.6:0:0:64:85:31:NM_001009812.1(LBX2) c.495A>G (p.(=)),NM_001009812.1(LBX2) c.495A>G (p.(=)):0.97,0.97:0.944393,0.944393 2 74725446 . C . . NT END=74726459;NT GT ./. 2 74726686 . C . . NT END=74729793;NT GT ./. 2 74729987 . C . . NT END=74732210;NT GT ./. 2 74732547 . C . . NT END=74732678;NT GT ./. 2 74732766 . C . . NT END=74732863;NT GT ./. 2 74732898 . C . . NT END=74733078;NT GT ./. 2 74733185 . C . . NT END=74733307;NT GT ./. 2 74733380 . C . . NT END=74733858;NT GT ./. 2 74734012 . C . . NT END=74734168;NT GT ./. 2 74734275 . C . . NT END=74734484;NT GT ./. 2 74734574 . A . . NT END=74734702;NT GT ./. 2 74734796 . C . . NT END=74741350;NT GT ./. 2 74741362 . G . . NT END=74741595;NT GT ./. 2 74741546 . A C 8 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=80;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,C:80:48:0:0:68,12:1861,167:0.00,8.05:0.00,10.24:0.00,-2.19:0.00,1.00:0.00,1.00:0.00,0.99:60,60:28.2,136.7:0,0:0,0:43,70:108,73:30,16:-,NM_016170.4(TLX2) c.-338-u50A>C:-,NOT_FOUND:-,NOT_FOUND 2 74742334 . G . . NT END=74742759;NT GT ./. 2 74742998 . G . . NT END=74743099;NT GT ./. 2 74743559 . G . . NT END=74745572;NT GT ./. 2 74745730 . C . . NT END=74746166;NT GT ./. 2 74746358 . C . . NT END=74746682;NT GT ./. 2 74746874 . C . . NT END=74747041;NT GT ./. 2 74747162 . C . . NT END=74749706;NT GT ./. 2 74749899 . C . . NT END=74749982;NT GT ./. 2 74750142 . C . . NT END=74750245;NT GT ./. 2 74750346 . C . . NT END=74750436;NT GT ./. 2 74750665 . C . . NT END=74751049;NT GT ./. 2 74751435 . C . . NT END=74752135;NT GT ./. 2 74752330 . C . . NT END=74752619;NT GT ./. 2 74752857 . G . . NT END=74753926;NT GT ./. 2 74753964 . C . . NT END=74754067;NT GT ./. 2 74754249 . C . . NT END=74754374;NT GT ./. 2 74754491 . C . . NT END=74754597;NT GT ./. 2 74754718 . C . . NT END=74754862;NT GT ./. 2 74754818 rs566953424 G GA 16 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;PC=0.009;Gene=AUP1/NM_181575.4/1;CC=c.841+44dupT;VC=Intron;Gene=AUP1/NR_126510.1/0;VC=NonCoding;Gene=AUP1/NR_126511.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G,GA,D:59:40:7:5:1,47,7,4:22,1396,213,123:0.61,0.00,15.59,8.11:-0.20,0.00,10.88,3.52:0.80,0.00,4.71,4.60:0.00,0.00,0.91,0.00:0.00,0.00,0.97,0.00:0.00,0.00,0.95,0.00:60,60,70,60:118.0,13.7,29.3,19.8:0,1,0,0:0,0,0,0:104,80,62,70:37,71,89,80:0,36,31,11:-,NM_181575.3(AUP1) c.841+44_841+45insT:-,NOT_FOUND:-,NOT_FOUND 2 74754966 . C . . NT END=74755066;NT GT ./. 2 74755134 . C . . NT END=74755374;NT GT ./. 2 74755449 . C . . NT END=74755543;NT GT ./. 2 74755617 . C . . NT END=74755877;NT GT ./. 2 74756063 . C . . NT END=74756258;NT GT ./. 2 74756627 . C . . NT END=74756706;NT GT ./. 2 74756849 . C . . NT END=74757133;NT GT ./. 2 74757640 . G . . NT END=74757743;NT GT ./. 2 74757949 . G . . NT END=74758037;NT GT ./. 2 74758233 . G . . NT END=74758465;NT GT ./. 2 74758499 . G . . NT END=74758693;NT GT ./. 2 74758830 . G . . NT END=74758982;NT GT ./. 2 74759053 . G . . NT END=74759745;NT GT ./. 2 74759842 . G . . NT END=74759946;NT GT ./. 2 74760113 . A . . NT END=74760732;NT GT ./. 2 74760807 . C . . NT END=74761008;NT GT ./. 2 74761121 . C . . NT END=74761226;NT GT ./. 2 74761364 . C . . NT END=74761442;NT GT ./. 2 74761559 . C . . NT END=74761657;NT GT ./. 2 74761902 . C . . NT END=74762418;NT GT ./. 2 74762582 . C . . NT END=74762714;NT GT ./. 2 74762883 . C . . NT END=74763122;NT GT ./. 2 74763278 . C . . NT END=74763417;NT GT ./. 2 74763599 . C . . NT END=74763835;NT GT ./. 2 74764056 . C . . NT END=74776495;NT GT ./. 2 74776404 rs375000246 G A 116 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.997,A/0.002995;NP=3;Gene=LOXL3/NM_001289165.1/0;CC=c.-172+92C>T;VC=Intron;Gene=LOXL3/NM_001289164.1/0;CC=c.477+908C>T;VC=Intron;Gene=LOXL3/NM_032603.3/1;CC=c.692+92C>T;VC=Intron;Gene=DOK1/NM_001197260.1/0;CC=c.-358+105G>A;VC=Intron;DM=LOXL3/SRCR;DM=LOXL3/SRCR;DM=LOXL3/SRCR;DM=LOXL3/SRCR;DM=LOXL3/SRCR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:67:0:0:38,31:1186,924:116.03,0.00:100.46,0.00:15.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,12.6:0,0:0,0:57,38:93,113:27,30:NM_032603.2(LOXL3) c.692+92C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 74777476 . C . . NT END=74779448;NT GT ./. 2 74779774 . C . . NT END=74781881;NT GT ./. 2 74781987 . G . . NT END=74782280;NT GT ./. 2 74782581 . G . . NT END=74782701;NT GT ./. 2 74784242 . G . . NT END=74785842;NT GT ./. 2 74786002 . C . . NT END=74787277;NT GT ./. 2 74787419 . C . . NT END=74789045;NT GT ./. 2 74788296 . A G 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;NP=8;PC=0.843;Gene=M1AP/NM_138804.4/1;CC=c.1282-878T>C;VC=Intron;Gene=M1AP/NM_001281296.1/0;CC=c.1282-878T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:13:9:0:0:10,3:265,90:0.00,7.39:0.00,5.07:0.00,2.32:0.00,0.58:0.00,0.87:0.00,0.87:60,60:118.6,154.7:1,0:0,0:80,68:43,82:9,13:-,NM_138804.3(C2orf65) c.1282-878T>C:-,NOT_FOUND:-,NOT_FOUND 2 74789551 . C . . NT END=74802386;NT GT ./. 2 74792952 rs72206117 TCA T 11 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=95;PC=0.012;Gene=M1AP/NM_138804.4/1;CC=c.1075-3404_1075-3403delTG;VC=Intron;Gene=M1AP/NM_001281296.1/0;CC=c.1075-3404_1075-3403delTG;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:4:0:6:3:133:11.06:7.35:3.70:0.85:0.85:0.95:60:19.7:1:0:33:96:15:NM_138804.3(C2orf65) c.1075-3404_1075-3403delTG,NM_138804.3(C2orf65) c.1075-3404_1075-3403delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 74802707 . C . . NT END=74803582;NT GT ./. 2 74803746 . C . . NT END=74804011;NT GT ./. 2 74804067 . T . . NT END=74808800;NT GT ./. 2 74808975 . C . . NT END=74834181;NT GT ./. 2 74834351 . C . . NT END=74842090;NT GT ./. 2 74842277 . C . . NT END=74867162;NT GT ./. 2 74867455 . C . . NT END=74874401;NT GT ./. 2 74867590 . A AT 10 rn VT=INS;SST=Single;DP=19;NP=1;Gene=M1AP/NM_138804.4/1;CC=c.-52-137_-52-136insA;VC=Intron;Gene=M1AP/NM_001281296.1/0;CC=c.-52-137_-52-136insA;VC=Intron;Gene=M1AP/NM_001281295.1/0;CC=c.-52-137_-52-136insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,AT,D:17:1:4:3:12,4,1:321,120,92:0.00,9.98,2.12:0.00,1.50,0.00:0.00,8.48,2.12:0.00,0.72,0.00:0.00,0.47,0.00:0.00,0.72,0.00:60,60,60:17.8,12.5,11.0:0,0,2:0,0,0:137,65,70:13,83,81:11,51,4:-,NM_138804.3(C2orf65) c.-52-137_-52-136insA:-,NOT_FOUND:-,NOT_FOUND 2 74874583 . t . . NT END=74875099;NT GT ./. 2 74875165 . A . . NT END=74875391;NT GT ./. 2 74875466 . C . . NT END=74875959;NT GT ./. 2 74875977 . A . . NT END=74881503;NT GT ./. 2 74881649 . G . . NT END=74883660;NT GT ./. 2 74883813 . G . . NT END=74884691;NT GT ./. 2 74884752 . G . . NT END=74884979;NT GT ./. 2 74885079 . G . . NT END=74889858;NT GT ./. 2 74889953 . G . . NT END=74900583;NT GT ./. 2 74900495 rs205648 G A 202 nt VT=SNV;PN=T;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.4892,A/0.5108;PC=0.001;Gene=SEMA4F/NM_001271661.1/0;CC=c.358-1130G>A;VC=Intron;Gene=SEMA4F/NM_001271662.1/0;CC=c.452-89G>A;VC=Intron;Gene=SEMA4F/NM_004263.4/1;CC=c.551-89G>A;VC=Intron;Gene=SEMA4F/NR_073398.1/0;VC=NonCoding;Gene=SEMA4F/NR_073399.1/0;VC=NonCoding;DM=SEMA4F/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:A:56:55:0:0:56:1750:201.57:163.85:37.72:1.00:1.00:1.00:60:39.5:0:0:45:100:30:NM_004263.3(SEMA4F) c.551-89G>A,NM_004263.3(SEMA4F) c.551-89G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 2 74900704 . G . . NT END=74900803;NT GT ./. 2 74900956 . G . . NT END=74901624;NT GT ./. 2 74901804 . G . . NT END=74902014;NT GT ./. 2 74902163 . G . . NT END=74902288;NT GT ./. 2 74902512 . G . . NT END=74902651;NT GT ./. 2 74902762 . G . . NT END=74902875;NT GT ./. 2 74903037 . G . . NT END=74906402;NT GT ./. 2 74906462 . G . . NT END=74906725;NT GT ./. 2 74907337 . A . . NT END=75061707;NT GT ./. 2 74981837 rs7604793 A T 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3726,T/0.6274;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:5:4:0:0:1,4:34,135:0.00,14.32:0.00,8.55:0.00,5.77:0.00,0.96:0.00,1.00:0.00,0.97:60,60:0.0,41.8:0,0:0,0:28,50:121,100:0,2:-,chr2 g.74981836A>T (intergenic):-,0.61:-,NOT_FOUND 2 75061771 . G . . NT END=75081419;NT GT ./. 2 75061873 rs663504 C G 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.2414,G/0.7586;Gene=HK2/NM_000189.4/1;CC=c.63+103C>G;VC=Intron;DM=HK2/Hexokinase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:4:0:0:31:916:106.29:8.54:97.74:1.00:1.00:1.00:60:39.8:0:0:117:34:19:NM_000189.4(HK2) c.63+103C>G,NM_000189.4(HK2) c.63+103C>G:0.76,0.76:NOT_FOUND,NOT_FOUND 2 75081583 . G . . NT END=75094762;NT GT ./. 2 75094912 . G . . NT END=75099426;NT GT ./. 2 75095103 rs397736327 G GTA 45 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8395,GTA/0.1605;DB;DBA=NA;PAF=G/0.8395,GTA/0.1605;NP=530;Gene=HK2/NM_000189.4/1;CC=c.375+193_375+194dupTA;VC=Intron;DM=HK2/Hexokinase_1;DM=HK2/Hexokinase_1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTA:23:0:15:0:8,15:249,446:0.00,45.30:0.00,0.00:0.00,45.30:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.6,16.8:1,0:0,0:124,94:24,57:16,34:-,NM_000189.4(HK2) c.375+192_375+193insTA:-,0.2:-,NOT_FOUND 2 75099547 . G . . NT END=75100402;NT GT ./. 2 75099694 rs28363003 G A 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.897,A/0.103;Gene=HK2/NM_000189.4/1;CC=c.495+148G>A;VC=Intron;DM=HK2/Hexokinase_1;DM=HK2/Hexokinase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:12:1:0:0:6,6:125,167:11.68,0.00:-0.30,0.00:11.98,0.00:0.98,0.00:0.67,0.00:1.00,0.00:60,60:94.3,59.0:0,0:0,0:139,118:11,30:3,10:NM_000189.4(HK2) c.495+148G>A,-:0.12,-:NOT_FOUND,- 2 75100499 . G . . NT END=75100970;NT GT ./. 2 75101071 . G . . NT END=75101392;NT GT ./. 2 75101577 . G . . NT END=75104292;NT GT ./. 2 75104449 . G . . NT END=75105814;NT GT ./. 2 75105798 rs604112 A G 390 nt VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.01358,G/0.9864;Gene=HK2/NM_000189.4/1;CC=c.1032-17A>G;VC=Intron;DM=HK2/Hexokinase_2;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:101:95:0:0:101:3416:389.76:307.44:82.31:1.00:1.00:1.00:60:40.4:0:0:48:99:29:NM_000189.4(HK2) c.1032-17A>G,NM_000189.4(HK2) c.1032-17A>G:0.99,0.99:0.994379,0.994379 2 75106049 . G . . NT END=75107391;NT GT ./. 2 75107697 . G . . NT END=75108837;NT GT ./. 2 75108987 . G . . NT END=75109246;NT GT ./. 2 75109430 . G . . NT END=75112620;NT GT ./. 2 75112717 . G . . NT END=75113420;NT GT ./. 2 75113050 rs4852348 A G 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4393,G/0.5607;Gene=HK2/NM_000189.4/1;CC=c.1935+334A>G;VC=Intron;DM=HK2/Hexokinase_1;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:5:3:0:0:2,3:62,86:0.00,8.57:0.00,6.71:0.00,1.85:0.00,0.78:0.00,0.94:0.00,0.87:60,60:31.5,56.3:0,0:0,0:74,75:76,65:63,11:-,NM_000189.4(HK2) c.1935+334A>G:-,0.56:-,NOT_FOUND 2 75113521 . G . . NT END=75113616;NT GT ./. 2 75113572 rs2306806 G A 187 nt VT=SNV;PN=G;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.5148,A/0.4852;Gene=HK2/NM_000189.4/1;CC=c.2036-45G>A;VC=Intron;DM=HK2/Hexokinase_2;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:112:81:0:0:61,51:1917,1616:187.20,0.00:112.02,0.00:75.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.5,7.6:0,0:0,0:65,42:83,99:34,32:NM_000189.4(HK2) c.2036-45G>A,-:0.51,-:0.526142,- 2 75113657 rs2229626 C T 226 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.4884,T/0.5116;PC=0.255;Gene=HK2/NM_000189.4/1;CC=c.2076C>T;ProtCh=p.N692=;VC=Silent;DM=HK2/Hexokinase_2;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:145:96:0:0:72,73:2173,2346:0.00,225.93:0.00,104.32:0.00,121.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,56.1:0,0:0,0:67,66:81,73:32,37:-,NM_000189.4(HK2) c.2076C>T (p.(=)):-,0.5:-,0.520068 2 75113789 rs2229627 C G 153 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.4824,G/0.5176,T/.;Gene=HK2/NM_000189.4/1;CC=c.2208C>G;ProtCh=p.P736=;VC=Silent;DM=HK2/Hexokinase_2;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:103:56:0:0:51,52:1548,1589:0.00,152.70:0.00,65.08:0.00,87.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,41.0:0,0:0,0:92,90:53,55:28,30:-,NM_000189.4(HK2) c.2208C>G (p.(=)):-,0.53:-,0.549208 2 75113801 . G . . NT END=75115029;NT GT ./. 2 75115108 rs10194657 A G 124 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.4758,G/0.5242;PC=1.000;Gene=HK2/NM_000189.4/1;CC=c.2298A>G;ProtCh=p.L766=;VC=Silent;DM=HK2/Hexokinase_2;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:71:57:0:0:34,37:1042,1275:0.00,123.80:0.00,65.35:0.00,58.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,39.1:0,0:0,0:88,71:62,77:31,35:-,NM_000189.4(HK2) c.2298A>G (p.(=)):-,0.55:-,0.571582 2 75115186 . G . . NT END=75116371;NT GT ./. 2 75115379 rs2279429 C T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5389,T/0.4611;Gene=HK2/NM_000189.4/1;CC=c.2375+194C>T;VC=Intron;DM=HK2/Hexokinase_2;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:13:0:0:0:8,5:279,164:0.00,15.02:0.00,0.00:0.00,15.02:0.00,0.91:0.00,0.00:0.00,0.91:60,60:1.6,32.8:0,0:0,0:117,56:34,95:11,13:-,NM_000189.4(HK2) c.2375+194C>T:-,0.47:-,NOT_FOUND 2 75116606 . G . . NT END=75117923;NT GT ./. 2 75116627 rs4853069 C T 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.3257,T/0.6743;Gene=HK2/NM_000189.4/1;CC=c.2609+22C>T;VC=Intron;DM=HK2/Hexokinase_2;DM=HK2/Hexokinase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:18:0:0:35,42:1032,1369:0.00,133.93:0.00,27.49:0.00,106.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,38.2:0,0:0,0:119,93:32,57:21,29:-,NM_000189.4(HK2) c.2609+22C>T:-,0.66:-,0.659926 2 75118069 . A . . NT END=75185806;NT GT ./. 2 75118330 rs943 T G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3706,G/0.6294;Gene=HK2/NM_000189.4/1;CC=c.*262T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:4:0:0:0:3,1:104,33:10.85,0.00:0.00,0.00:10.85,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:34.7,0.0:0,0:0,0:32,50:119,100:9,0:NM_000189.4(HK2) c.*262T>G,-:0.62,-:NOT_FOUND,- 2 75167111 rs56215660 C T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7019,T/0.2981 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:231:26.44:16.90:9.54:1.00:1.00:1.00:60:33.0:0:0:45:70:35:chr2 g.75167110C>T (intergenic),chr2 g.75167110C>T (intergenic):0.26,0.26:NOT_FOUND,NOT_FOUND 2 75185667 rs7578100 C G 116 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.2206,G/0.7794 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:34:0:0:34:1000:116.18:116.18:0.00:1.00:1.00:0.00:60:37.0:0:0:38:112:28:NM_019896.2(POLE4) c.-32-u108C>G,NM_019896.2(POLE4) c.-32-u108C>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 75186020 . G . . NT END=75186467;NT GT ./. 2 75186242 rs72822155 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9868,T/0.01318;Gene=POLE4/NM_019896.2/1;CC=c.213+223C>T;VC=Intron;DM=POLE4/CBFD_NFYB_HMF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:5:0:0:8,6:246,194:0.00,18.11:0.00,8.09:0.00,10.02:0.00,0.96:0.00,0.93:0.00,0.99:60,60:7.6,43.2:0,0:0,0:93,79:56,71:21,42:-,NM_019896.2(POLE4) c.213+223C>T:-,0.02:-,NOT_FOUND 2 75186337 rs2287102 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6955,G/0.3045;Gene=POLE4/NM_019896.2/1;CC=c.214-131A>G;VC=Intron;DM=POLE4/CBFD_NFYB_HMF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:15:11:0:0:7,8:181,270:0.00,26.36:0.00,18.39:0.00,7.97:0.00,1.00:0.00,1.00:0.00,0.97:60,60:7.9,43.6:0,0:0,0:60,59:91,91:31,28:-,NM_019896.2(POLE4) c.214-131A>G:-,0.27:-,NOT_FOUND 2 75186553 . G . . NT END=75187231;NT GT ./. 2 75187274 . G . . NT END=75196535;NT GT ./. 2 75196550 . T . . NT END=75276558;NT GT ./. 2 75196731 rs7881 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7296,G/0.2704;Gene=POLE4/NM_019896.2/1;CC=c.*182A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:8:0:0:0:3,5:102,167:0.00,16.79:0.00,0.00:0.00,16.79:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,37.4:0,0:0,0:92,130:59,21:7,2:-,NM_019896.2(POLE4) c.*182A>G:-,0.24:-,NOT_FOUND 2 75276429 rs881 C G 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.778,G/0.222;Gene=TACR1/NM_001058.3/1;CC=c.*130G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,G:16:16:0:0:5,11:170,350:0.00,35.93:0.00,35.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.8,56.9:0,0:0,0:58,47:92,104:5,30:-,NM_001058.3(TACR1) c.*130G>C:-,0.17:-,NOT_FOUND 2 75276851 . C . . NT END=75278329;NT GT ./. 2 75278575 . C . . NT END=75280731;NT GT ./. 2 75280883 . C . . NT END=75347699;NT GT ./. 2 75297309 rs28394881 A G 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6839,G/0.3161;PC=0.005;Gene=TACR1/NM_001058.3/1;CC=c.585-16427T>C;VC=Intron;Gene=TACR1/NM_015727.2/0;CC=c.585-16427T>C;VC=Intron;DM=TACR1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:2:0:0:2,2:67,69:0.00,6.65:0.00,3.28:0.00,3.38:0.00,0.51:0.00,0.79:0.00,0.79:60,60:0.0,96.0:0,0:0,0:53,86:97,64:6,30:-,NM_001058.3(TACR1) c.585-16427T>C:-,0.28:-,NOT_FOUND 2 75297380 rs28516941 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6685,G/0.3315;NP=29;Gene=TACR1/NM_001058.3/1;CC=c.585-16498T>C;VC=Intron;Gene=TACR1/NM_015727.2/0;CC=c.585-16498T>C;VC=Intron;DM=TACR1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:1:0:0:2,2:67,69:0.00,6.65:0.00,-0.15:0.00,6.80:0.00,0.51:0.00,0.67:0.00,0.51:60,60:0.0,64.0:0,1:0,0:90,59:61,90:41,51:-,NM_001058.3(TACR1) c.585-16498T>C:-,NOT_FOUND:-,NOT_FOUND 2 75342210 rs72058991 CGTGT C 10 sb,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=12;Gene=TACR1/NM_001058.3/1;CC=c.584+5486_584+5489delACAC;VC=Intron;Gene=TACR1/NM_015727.2/0;CC=c.584+5486_584+5489delACAC;VC=Intron;DM=TACR1/7tm_1;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CGTGT,C:5:5:0:3:2,3:69,100:0.00,9.97:0.00,8.59:0.00,1.38:0.00,0.78:0.00,0.78:0.00,0.94:60,70:6.0,0.0:0,0:0,0:92,91:26,60:34,26:-,NM_001058.3(TACR1) c.584+5486_584+5489delACAC:-,NOT_FOUND:-,NOT_FOUND 2 75347895 . C . . NT END=75425671;NT GT ./. 2 75381614 . CCACA C 10 idl,rn VT=DEL;SST=Single;DP=16;NP=4;PC=0.004;Gene=TACR1/NM_001058.3/1;CC=c.390-33724_390-33721delTGTG;VC=Intron;Gene=TACR1/NM_015727.2/0;CC=c.390-33724_390-33721delTGTG;VC=Intron;DM=TACR1/7tm_1;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,CCACA,I,C:13:11:3:7:1,6,2,4:33,156,76,168:2.41,0.00,4.51,9.76:-0.12,0.00,2.17,4.06:2.53,0.00,2.34,5.70:0.00,0.00,0.00,0.75:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.89:60,60,60,70:81.0,48.3,34.0,48.5:1,0,1,2:0,0,0,0:90,109,44,62:61,35,107,89:0,18,11,16:-,NM_001058.3(TACR1) c.390-33724_390-33721delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 75425623 rs2024512 G A 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.4591,A/0.5409;Gene=TACR1/NM_001058.3/1;CC=c.389+49C>T;VC=Intron;Gene=TACR1/NM_015727.2/0;CC=c.389+49C>T;VC=Intron;DM=TACR1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:54:0:0:28,28:946,739:91.23,0.00:67.19,0.00:24.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.2,15.1:0,0:0,0:46,48:100,98:34,27:NM_001058.3(TACR1) c.389+49C>T,-:0.53,-:0.573966,- 2 75425728 rs6715729 A G 172 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.4349,G/0.5651;PC=1.000;Gene=TACR1/NM_001058.3/1;CC=c.333T>C;ProtCh=p.F111=;VC=Silent;Gene=TACR1/NM_015727.2/0;CC=c.333T>C;ProtCh=p.F111=;VC=Silent;DM=TACR1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:113:87:0:0:58,55:1816,1793:0.00,171.54:0.00,87.60:0.00,83.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,49.2:0,0:0,0:68,64:77,75:30,38:-,NM_001058.3(TACR1) c.333T>C (p.(=)):-,0.55:-,0.600338 2 75426061 . T . . NT END=75720361;NT GT ./. 2 75654262 rs70937844 C CGT 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7432,CGT/0.2568,CGTGT/.;DB;DBA=NA;PAF=NA;NP=13;NP=14;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CGT:3:4:4:0:3:132:10.96:9.13:1.83:0.85:0.85:0.83:60:5.7:1:0:54:96:18:chr2 g.75654262_75654263insGT (intergenic),chr2 g.75654262_75654263insGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 75720736 . C . . NT END=75745181;NT GT ./. 2 75745081 rs2286994 T C 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.5679,C/0.4321;Gene=EVA1A/NM_001135032.1/0;CC=c.85+101A>G;VC=Intron;Gene=EVA1A/NM_032181.2/1;CC=c.85+101A>G;VC=Intron;DM=EVA1A/FAM176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:35:0:0:12,23:395,740:35.45,0.00:35.63,0.00:-0.18,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:36.2,2.1:0,0:0,0:49,40:101,110:24,23:NM_001135032.1(EVA1A) c.85+101A>G,-:0.42,-:NOT_FOUND,- 2 75745335 . C . . NT END=75745766;NT GT ./. 2 75745574 rs4852380 C A 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6238,A/0.3762;Gene=EVA1A/NM_001135032.1/0;CC=c.-68-240G>T;VC=Intron;Gene=EVA1A/NM_032181.2/1;CC=c.-68-240G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:14:0:0:6,11:205,327:18.57,0.00:15.83,0.00:2.75,0.00:0.95,0.00:0.99,0.00:0.75,0.00:60,60:38.0,13.0:0,0:0,0:52,43:99,107:15,16:NM_001135032.1(EVA1A) c.-68-240G>T,-:0.37,-:NOT_FOUND,- 2 75745889 . G . . NT END=75745930;NT GT ./. 2 75745950 . C . . NT END=75873933;NT GT ./. 2 75873733 rs2286238 T C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.3337,C/0.6663;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:7,10:213,291:19.65,0.00:19.65,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:31.6,20.4:0,0:0,0:57,69:94,81:50,42:NM_014763.3(MRPL19) c.-25-u176T>C,-:0.66,-:NOT_FOUND,- 2 75874037 . G . . NT END=75874227;NT GT ./. 2 75874346 . G . . NT END=75879267;NT GT ./. 2 75874390 rs2286239 G C 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.8123,C/0.1877;Gene=MRPL19/NM_014763.3/1;CC=c.221+45G>C;VC=Intron;DM=MRPL19/Ribosomal_L19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:48:15:0:0:15,33:484,1133:42.61,0.00:7.49,0.00:35.12,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:52.9,6.9:0,0:0,0:92,90:59,61:25,31:NM_014763.3(MRPL19) c.221+45G>C,-:0.18,-:0.188078,- 2 75879387 . G . . NT END=75879648;NT GT ./. 2 75879784 . G . . NT END=75881861;NT GT ./. 2 75881828 rs6759555 T C 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.487,C/0.513;Gene=MRPL19/NM_014763.3/1;CC=c.476-34T>C;VC=Intron;DM=MRPL19/Ribosomal_L19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:28:21:0:0:1,18,9:11,593,288:0.20,60.41,0.00:-0.11,38.50,0.00:0.31,21.91,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:96.0,37.1,6.7:0,0,0:0,0,0:4,26,63:147,120,86:0,19,25:NM_014763.3(MRPL19) c.476-34T>C,-:0.49,-:0.504395,- 2 75882044 . G . . NT END=75882189;NT GT ./. 2 75882156 . CTT C 26 idl,rn VT=DEL;SST=Single;DP=30;PC=0.001;Gene=MRPL19/NM_014763.3/1;CC=c.658-14_658-13delTT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,I,C:23:17:1:18:13,1,9:358,31,490:0.00,1.91,26.29:0.00,-0.09,17.07:0.00,2.00,9.22:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:11.5,0.0,63.4:0,0,7:0,0,0:81,103,58:63,48,92:59,0,29:-,NM_014763.3(MRPL19) c.658-33_658-32delTT:-,NOT_FOUND:-,NOT_FOUND 2 75882412 . T . . NT END=75891791;NT GT ./. 2 75882576 rs11847 T C 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.487,C/0.513;PC=0.004;Gene=MRPL19/NM_014763.3/1;CC=c.*165T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:9:0:0:0:4,5:129,144:12.13,0.00:0.00,0.00:12.13,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:43.0,4.2:0,0:0,0:126,99:23,52:11,8:NM_014763.3(MRPL19) c.*165T>C,-:0.49,-:NOT_FOUND,- 2 75891910 . C . . NT END=75893054;NT GT ./. 2 75892837 rs3213670 T C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9333,C/0.06669;Gene=GCFC2/NM_001201334.1/1;CC=c.1721+218A>G;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.2228+218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:C,T:4:4:0:0:3,1:76,10:8.06,0.00:8.06,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:35.0,121.0:0,0:0,0:54,133:97,18:5,0:NM_003203.4(GCFC2) c.2228+218A>G,-:0.08,-:NOT_FOUND,- 2 75893180 . C . . NT END=75897263;NT GT ./. 2 75897176 rs13429072 C G 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6937,G/0.3063;PC=0.001;Gene=GCFC2/NM_001201334.1/1;CC=c.1596+88G>C;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.2103+88G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:27:23:0:0:1,13,13:10,428,397:0.08,0.00,38.05:0.13,0.00,28.31:-0.05,0.00,9.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:166.0,3.8,57.1:0,0,0:0,0,0:63,31,45:88,119,106:0,20,29:-,NM_003203.4(GCFC2) c.2103+88G>C:-,0.3:-,NOT_FOUND 2 75897411 . C . . NT END=75899075;NT GT ./. 2 75898890 rs34342745 CATTT C 11 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CATTT/0.7187,C/0.2813;NP=337;PC=0.001;Gene=GCFC2/NM_001201334.1/1;CC=c.1449+182_1449+185delAAAT;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.1956+182_1956+185delAAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:CATTT,C:6:6:0:4:2,4:46,112:0.00,11.45:0.00,11.45:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:7.5,1.8:0,0:0,0:83,68:67,81:43,8:-,NM_003203.4(GCFC2) c.1956+182_1956+185delAAAT:-,0.28:-,NOT_FOUND 2 75899143 . C . . NT END=75900569;NT GT ./. 2 75900647 . C . . NT END=75907318;NT GT ./. 2 75907351 rs6722682 T C 84 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.7959,C/0.2041;PC=0.264;Gene=GCFC2/NM_001201334.1/1;CC=c.1273A>G;ProtCh=p.T425A;VC=Missense;Gene=GCFC2/NM_003203.4/0;CC=c.1780A>G;ProtCh=p.T594A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:51:39:0:0:26,1,24:863,9,773:83.58,-0.07,0.00:49.08,0.01,0.00:34.50,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.2,40.0,13.0:0,0,0:0,0,0:56,52,61:80,98,79:31,0,27:NM_003203.4(GCFC2) c.1780A>G (p.Thr594Ala),-:0.19,-:0.248962,- 2 75907441 . C . . NT END=75914952;NT GT ./. 2 75915035 rs1803196 C T 78 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.4876,T/0.5124;Gene=GCFC2/NM_001201334.1/1;CC=c.1101G>A;ProtCh=p.V367=;VC=Silent;Gene=GCFC2/NM_003203.4/0;CC=c.1608G>A;ProtCh=p.V536=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:31:0:0:31,26:1029,830:0.00,78.33:0.00,26.57:0.00,51.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,33.2:0,0:0,0:86,76:65,73:25,47:-,NM_003203.4(GCFC2) c.1608G>A (p.(=)):-,0.49:-,0.512073 2 75915104 . C . . NT END=75916151;NT GT ./. 2 75916352 . C . . NT END=75917094;NT GT ./. 2 75917208 . C . . NT END=75917763;NT GT ./. 2 75917612 rs2301978 G A 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4864,A/0.5136;Gene=GCFC2/NM_001201334.1/1;CC=c.719+152C>T;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.1226+152C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:8:8:0:0:3,5:102,148:9.33,0.00:9.33,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:34.0,2.4:0,0:0,0:42,83:109,68:3,23:NM_003203.4(GCFC2) c.1226+152C>T,-:0.49,-:NOT_FOUND,- 2 75917846 . C . . NT END=75919102;NT GT ./. 2 75918070 rs10207888 T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7372,G/0.2628;Gene=GCFC2/NM_001201334.1/1;CC=c.638-225A>C;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.1145-225A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:G,T:6:0:0:0:4,2:102,70:10.44,0.00:0.00,0.00:10.44,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:60.0,0.0:0,0:0,0:88,58:61,92:15,41:NM_003203.4(GCFC2) c.1145-225A>C,-:0.27,-:NOT_FOUND,- 2 75918086 rs34937719 T C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9411,C/0.05891;Gene=GCFC2/NM_001201334.1/1;CC=c.638-241A>G;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.1145-241A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:6:0:0:0:4,2:138,62:14.05,0.00:0.00,0.00:14.05,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:60.0,0.0:0,0:0,0:104,74:45,76:15,41:NM_003203.4(GCFC2) c.1145-241A>G,-:0.08,-:NOT_FOUND,- 2 75919227 . C . . NT END=75921366;NT GT ./. 2 75919272 rs142689014 AATAT A 31 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=148;Gene=GCFC2/NM_001201334.1/1;CC=c.514-50_514-47delATAT;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.1021-50_1021-47delATAT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AATAT,I,A:22:10:1:12:11,1,10:343,33,396:0.00,2.20,31.49:0.00,-0.05,16.55:0.00,2.24,14.95:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:31.6,0.0,70.6:0,0,2:0,0,0:126,95,71:18,55,79:16,0,25:-,NM_003203.4(GCFC2) c.1021-50_1021-47delATAT:-,NOT_FOUND:-,NOT_FOUND 2 75919294 rs116783069 T C 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4417,C/0.5583;PC=0.001;Gene=GCFC2/NM_001201334.1/1;CC=c.514-68A>G;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.1021-68A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:7:0:0:14,9:461,270:46.07,0.00:11.96,0.00:34.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.6,32.6:0,0:0,0:73,119:76,31:38,19:NM_003203.4(GCFC2) c.1021-68A>G,-:0.47,-:NOT_FOUND,- 2 75919296 rs372259037 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4303,C/0.5697;DB;DBA=NA;PAF=NA;Gene=GCFC2/NM_001201334.1/1;CC=c.514-70A>G;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.1021-70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:7:0:0:14,9:449,286:44.86,0.00:13.68,0.00:31.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.6,32.6:0,0:0,0:75,121:74,29:38,19:NM_003203.4(GCFC2) c.1021-70A>G,-:0.48,-:NOT_FOUND,- 2 75921554 . C . . NT END=75923325;NT GT ./. 2 75923413 rs7560262 T C 65 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4467,C/0.5533;PC=0.001;Gene=GCFC2/NM_001201334.1/1;CC=c.239A>G;ProtCh=p.N80S;VC=Missense;Gene=GCFC2/NM_003203.4/0;CC=c.746A>G;ProtCh=p.N249S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:27:0:0:20,22:684,717:65.32,0.00:28.43,0.00:36.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,2.5:0,0:0,0:94,95:51,54:23,20:NM_003203.4(GCFC2) c.746A>G (p.Asn249Ser),-:0.54,-:0.562993,- 2 75923442 . C . . NT END=75928315;NT GT ./. 2 75928300 rs6547019 G T 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.4892,T/0.5108;Gene=GCFC2/NM_001201334.1/1;CC=c.210+16C>A;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.717+16C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:26:0:0:17,13:528,403:0.00,37.60:0.00,30.51:0.00,7.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,43.4:0,0:0,0:54,73:97,78:35,31:-,NM_003203.4(GCFC2) c.717+16C>A:-,0.49:-,0.510997 2 75928414 . C . . NT END=75928907;NT GT ./. 2 75929130 rs3088181 C A 84 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.6054,A/0.3946;PC=0.001;Gene=GCFC2/NM_001201334.1/1;CC=c.112+195G>T;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.619+195G>T;VC=Intron;Gene=GCFC2/NM_001201335.1/0;CC=c.*166G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:63:44:0:0:28,35:899,1108:84.47,0.00:47.26,0.00:37.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,15.9:0,0:0,0:77,79:72,70:32,38:NM_003203.4(GCFC2) c.619+195G>T,-:0.39,-:NOT_FOUND,- 2 75929238 rs3088180 C A 129 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.4884,A/0.5116;Gene=GCFC2/NM_001201334.1/1;CC=c.112+87G>T;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.619+87G>T;VC=Intron;Gene=GCFC2/NM_001201335.1/0;CC=c.*58G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:70:40:0:0:41,29:1304,906:129.30,0.00:64.25,0.00:65.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.7,9.8:0,0:0,0:67,100:77,51:29,33:NM_003203.4(GCFC2) c.619+87G>T,-:0.49,-:NOT_FOUND,- 2 75929574 . C . . NT END=75933648;NT GT ./. 2 75933590 rs10204609 A G 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.8904,G/0.1096;Gene=GCFC2/NM_001201334.1/1;CC=c.-114+59T>C;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.394+59T>C;VC=Intron;Gene=GCFC2/NM_001201335.1/0;CC=c.394+59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:32:0:0:15,19:490,614:0.00,60.30:0.00,53.64:0.00,6.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,39.6:0,0:0,0:19,51:131,100:6,21:-,NM_003203.4(GCFC2) c.394+59T>C:-,0.11:-,NOT_FOUND 2 75933778 . C . . NT END=75937569;NT GT ./. 2 75933830 rs6728499 T A 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4906,A/0.5094;Gene=GCFC2/NM_001201334.1/1;CC=c.-242-53A>T;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.266-53A>T;VC=Intron;Gene=GCFC2/NM_001201335.1/0;CC=c.266-53A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:7:0:0:15,8:504,267:51.10,0.00:9.96,0.00:41.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.7,3.1:0,0:0,0:85,111:50,39:20,15:NM_003203.4(GCFC2) c.266-53A>T,-:0.49,-:NOT_FOUND,- 2 75933858 rs34446032 A G 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.9645,G/0.03554;Gene=GCFC2/NM_001201334.1/1;CC=c.-242-81T>C;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.266-81T>C;VC=Intron;Gene=GCFC2/NM_001201335.1/0;CC=c.266-81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:6:0:0:9,15:285,495:0.00,49.76:0.00,9.58:0.00,40.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,75.8:0,0:0,0:114,105:18,44:32,25:-,NM_003203.4(GCFC2) c.266-81T>C:-,0.05:-,NOT_FOUND 2 75937387 rs7573105 T C 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.08586,C/0.9141;Gene=GCFC2/NM_001201334.1/1;CC=c.-243+183A>G;VC=Intron;Gene=GCFC2/NM_003203.4/0;CC=c.265+330A>G;VC=Intron;Gene=GCFC2/NM_001201335.1/0;CC=c.265+330A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:618:70.86:70.86:0.00:1.00:1.00:0.00:60:40.6:0:0:42:109:18:NM_003203.4(GCFC2) c.265+330A>G,NM_003203.4(GCFC2) c.265+330A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 75937801 rs10177030 C T 346 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=203;DB;DBA=NA;PAF=C/0.8932,T/0.1068;Gene=GCFC2/NM_003203.4/0;CC=c.181G>A;ProtCh=p.V61I;VC=Missense;Gene=GCFC2/NM_001201335.1/0;CC=c.181G>A;ProtCh=p.V61I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:203:128:0:0:1,88,114:13,2846,3516:-0.08,0.00,345.71:-0.10,0.00,157.61:0.01,0.00,188.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:46.0,10.0,38.6:0,0,0:0,0,0:105,85,84:44,60,58:0,42,36:-,NM_003203.4(GCFC2) c.181G>A (p.Val61Ile):-,0.11:-,0.113236 2 75938251 rs10179871 G A 193 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=G/0.7718,A/0.2282 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:137:83:0:0:62,75:2046,2290:193.26,0.00:72.55,0.00:120.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,9.8:0,0:0,0:71,68:78,79:32,38:NM_003203.4(GCFC2) c.-130-u140C>T,-:0.23,-:NOT_FOUND,- 2 75938353 . C . . NT END=76975820;NT GT ./. 2 76209470 rs2583538 G T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.0611,T/0.9389;PC=0.971 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:143:16.21:16.21:0.00:1.00:1.00:0.00:60:42.2:0:0:54:95:7:chr2 g.76209469G>T (intergenic),chr2 g.76209469G>T (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 2 76225098 rs67370640 CGT C 6 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;PC=0.016;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CGT,C:3:5:0:4:1,2:35,126:0.00,6.34:0.00,-0.01:0.00,6.35:0.00,0.46:0.00,0.46:0.00,0.46:60,60:0.0,0.0:0,2:0,0:36,58:23,83:0,8:-,chr2 g.76225099_76225100delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 76267032 rs545957090 TAC T 8 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TAC/0.2889,T/0.7111;NP=5;PC=0.189;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:TAC,T:5:7:0:6:2,3:71,175:0.00,8.14:0.00,5.64:0.00,2.50:0.00,0.67:0.00,0.95:0.00,0.85:60,60:24.0,19.0:0,3:0,0:67,55:57,96:48,8:-,chr2 g.76267033_76267034delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 76526252 rs13005979 C T 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.01338,T/0.9866 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:135:15.41:3.88:11.53:1.00:1.00:1.00:60:33.8:0:0:88:62:2:chr2 g.76526251C>T (intergenic),chr2 g.76526251C>T (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 2 76790160 . AACAC A 11 rn VT=DEL;SST=Single;DP=5;NP=11;PC=0.890;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AACAC,A:5:4:0:4:1,4:33,101:0.00,10.65:0.00,6.81:0.00,3.84:0.00,0.96:0.00,1.00:0.00,1.00:26,60:0.0,0.0:0,0:0,0:19,75:37,75:0,16:-,chr2 g.76790161_76790164delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 76834012 rs71374376 A AAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6396,AAC/0.3604,AACAC/.;DB;DBA=NA;PAF=A/0.6396,AAC/0.3604,AACAC/.;NP=5;NP=96;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,AAC:4:4:2:0:2,2:46,67:0.00,6.46:0.00,6.61:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,60:0.0,0.0:0,0:0,0:85,46:65,103:54,21:-,chr2 g.76834012_76834013insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 76921181 . T TTG 9 nt VT=INS;SST=Single;DP=6;NP=4;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:T,TTG,D:6:5:3:1:2,3,1:32,90,26:0.00,8.94,2.15:0.00,4.48,2.15:0.00,4.46,0.00:0.00,0.98,0.00:0.00,0.96,0.00:0.00,0.79,0.00:60,60,60:15.0,48.7,54.0:0,0,1:0,0,0:130,42,16:19,106,135:17,5,0:-,chr2 g.76921181_76921182insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 76921182 rs34995442 C T 14 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3327,T/0.6673;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:4:0:1:5:119:14.22:9.66:4.56:1.00:1.00:1.00:60:35.2:3:0:75:75:35:chr2 g.76921181C>T (intergenic),chr2 g.76921181C>T (intergenic):0.62,0.62:NOT_FOUND,NOT_FOUND 2 76976043 . C . . NT END=77743786;NT GT ./. 2 77157051 rs200531744 TTGTGTG T 10 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=16;PC=0.002;Gene=LRRTM4/NM_001134745.1/0;CC=c.1552-181015_1552-181010delCACACA;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1552-181015_1552-181010delCACACA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:TTGTGTG,T:4:5:0:5:1,3:31,156:0.00,9.53:0.00,8.14:0.00,1.39:0.00,0.98:0.00,0.96:0.00,0.79:54,60:0.0,32.7:0,2:0,0:70,66:36,84:0,16:-,NM_001134745.1(LRRTM4) c.1552-181015_1552-181010delCACACA:-,NOT_FOUND:-,NOT_FOUND 2 77237627 rs59779558 T TACACAC 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=3;NP=5;Gene=LRRTM4/NM_001134745.1/0;CC=c.1552-261586_1552-261585insGTGTGT;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1552-261586_1552-261585insGTGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TACACAC:4:5:3:0:2,2:64,97:0.00,6.41:0.00,4.95:0.00,1.47:0.00,0.46:0.00,0.46:0.00,0.80:60,60:6.0,71.0:0,1:0,0:47,30:44,91:25,25:-,NM_001134745.1(LRRTM4) c.1552-261586_1552-261585insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 77305506 rs199904442 C CCA 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;PC=0.011;Gene=LRRTM4/NM_001134745.1/0;CC=c.1552-329465_1552-329464insTG;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1552-329465_1552-329464insTG;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,CCA:4:4:2:0:2,2:54,66:0.00,6.35:0.00,4.96:0.00,1.39:0.00,0.51:0.00,0.51:0.00,0.89:60,60:28.5,0.0:0,0:0,0:85,64:65,86:9,29:-,NM_001134745.1(LRRTM4) c.1552-329465_1552-329464insTG:-,NOT_FOUND:-,NOT_FOUND 2 77487500 rs58758948 C CGT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=123;NP=2;PC=0.005;Gene=LRRTM4/NM_001134745.1/0;CC=c.1551+257943_1551+257944insAC;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1551+257943_1551+257944insAC;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,CGT:7:3:4:0:3,4:46,121:0.00,12.03:0.00,6.57:0.00,5.46:0.00,0.90:0.00,0.93:0.00,0.99:60,60:53.7,9.2:0,0:0,0:25,72:126,78:8,17:-,NM_001134745.1(LRRTM4) c.1551+257943_1551+257944insAC:-,NOT_FOUND:-,NOT_FOUND 2 77653931 rs72224838 GCA G 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=163;PC=0.005;Gene=LRRTM4/NM_001134745.1/0;CC=c.1551+91511_1551+91512delTG;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1551+91511_1551+91512delTG;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:4:0:5:3:131:10.76:10.76:0.00:0.85:0.85:0.00:60:0.0:1:0:26:124:8:NM_001134745.1(LRRTM4) c.1551+91511_1551+91512delTG,NM_001134745.1(LRRTM4) c.1551+91511_1551+91512delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 77653957 rs70956630 GCA G 22 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GCA/0.7133,G/0.2867;DB;DBA=NA;PAF=GCA/0.7133,G/0.2867;NP=207;Gene=LRRTM4/NM_001134745.1/0;CC=c.1551+91485_1551+91486delTG;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1551+91485_1551+91486delTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:6:6:190:21.86:15.16:6.70:1.00:1.00:1.00:60:18.8:0:0:50:97:19:NM_001134745.1(LRRTM4) c.1551+91485_1551+91486delTG,NM_001134745.1(LRRTM4) c.1551+91485_1551+91486delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 77672031 rs10194234 A T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2103,T/0.7897;Gene=LRRTM4/NM_001134745.1/0;CC=c.1551+73413T>A;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1551+73413T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,T:4:4:0:0:1,3:31,101:0.00,10.55:0.00,4.98:0.00,5.58:0.00,0.85:0.00,0.85:0.00,0.99:60,70:0.0,68.7:0,0:0,0:52,70:97,66:0,0:-,NM_001134745.1(LRRTM4) c.1551+73413T>A:-,0.78:-,NOT_FOUND 2 77744821 rs5832288 CA C 73 idl,rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=12;Gene=LRRTM4/NM_001134745.1/0;CC=c.1551+622delT;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1551+622delT;VC=Intron;Gene=LRRTM4/NM_001282928.1/0;CC=c.*616delT;VC=3UTR;Gene=LRRTM4/NM_024993.4/0;CC=c.*616delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:53:34:4:32:2,23,3,25:22,683,117,865:0.33,0.00,5.56,72.98:-0.19,0.00,3.81,41.10:0.51,0.00,1.76,31.89:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:50.5,21.6,45.7,36.1:0,1,1,4:0,0,0,0:62,121,44,90:75,29,106,53:45,27,25,27:-,NM_001134745.1(LRRTM4) c.1551+622delT:-,NOT_FOUND:-,NOT_FOUND 2 77745255 rs36044249 TAA T 40 idl,rn VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=TAA/0.8339,T/0.1661;DB;DBA=NA;PAF=TAA/0.8339,T/0.1661;NP=32;PC=0.042;Gene=LRRTM4/NM_001134745.1/0;CC=c.1551+187_1551+188delTT;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.1551+187_1551+188delTT;VC=Intron;Gene=LRRTM4/NM_001282928.1/0;CC=c.*181_*182delTT;VC=3UTR;Gene=LRRTM4/NM_024993.4/0;CC=c.*181_*182delTT;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TAA,I,T:56:41:3:31:1,37,3,15:31,1054,97,881:1.51,0.00,6.32,39.95:-0.10,0.00,4.61,22.32:1.60,0.00,1.72,17.63:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:31.0,32.2,3.3,49.1:0,0,0,15:0,0,0,0:0,98,86,63:151,50,64,77:0,35,12,13:-,NM_001134745.1(LRRTM4) c.1551+187_1551+188delTT:-,NOT_FOUND:-,NOT_FOUND 2 77746991 . C . . NT END=77748793;NT GT ./. 2 77748798 . C . . NT END=79253219;NT GT ./. 2 77748825 . CT C 123 nt VT=DEL;SST=Single;DP=72;PC=1.000;Gene=LRRTM4/NM_001134745.1/0;CC=c.-29delA;VC=5UTR;Gene=LRRTM4/NM_001282924.1/1;CC=c.-29delA;VC=5UTR;Gene=LRRTM4/NM_001282928.1/0;CC=c.7+409delA;VC=Intron;Gene=LRRTM4/NM_024993.4/0;CC=c.-29delA;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:72:40:0:41:32,40:1085,1251:0.00,122.69:0.00,44.23:0.00,78.46:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.1,5.0:0,0:0,0:69,63:68,75:32,23:-,NM_001134745.1(LRRTM4) c.-29delA:-,NOT_FOUND:-,NOT_FOUND 2 77748963 . CAA C 8 rn VT=DEL;SST=Single;DP=11;PC=0.998;Gene=LRRTM4/NM_001134745.1/0;CC=c.-147-21_-147-20delTT;VC=Intron;Gene=LRRTM4/NM_001282924.1/1;CC=c.-77-91_-77-90delTT;VC=Intron;Gene=LRRTM4/NM_001282928.1/0;CC=c.7+270_7+271delTT;VC=Intron;Gene=LRRTM4/NM_024993.4/0;CC=c.-147-21_-147-20delTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:CAA,C:11:0:0:3:8,3:229,94:0.00,8.04:0.00,0.00:0.00,8.04:0.00,0.60:0.00,0.00:0.00,0.60:70,60:19.4,18.3:0,0:0,0:146,115:4,35:2,8:-,NM_001134745.1(LRRTM4) c.-147-21_-147-20delTT:-,NOT_FOUND:-,NOT_FOUND 2 78041520 rs59007945 G GGT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=106;NP=5;PC=0.199;Gene=LOC101927967/NR_110288.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:G,GGT,D:7:5:4:1:2,4,1:34,117,27:0.00,11.91,2.20:0.00,4.38,1.03:0.00,7.53,1.17:0.00,0.90,0.00:0.00,0.98,0.00:0.00,0.97,0.00:60,60,60:75.5,8.2,0.0:0,0,0:0,0,0:127,35,11:15,105,112:5,26,0:-,chr2 g.78041520_78041521insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 78315954 rs67103703 CTG C 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=41;Gene=LOC101927967/NR_110288.1/0;VC=NonCoding;Gene=LOC101927948/NR_110287.1/0;VC=NonCoding;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CTG,C:3:2:0:3:1,2:10,95:0.00,6.47:0.00,4.96:0.00,1.50:0.00,0.51:0.00,0.79:0.00,0.89:60,60:62.0,87.0:0,1:0,0:111,60:28,91:0,15:-,chr2 g.78315955_78315956delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 78324046 . CAA A,C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;NP=6;PC=0.078 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:53:A,CAA,C:5:3:0:2:2,1,2:66,13,65:6.54,0.00,6.44:5.02,0.00,3.38:1.52,0.00,3.06:0.46,0.00,0.00:0.80,0.00,0.00:0.80,0.00,0.00:60,60,60:67.5,82.0,14.5:1,0,0:0,0,0:81,6,90:69,145,54:39,0,25:chr2 g.78324046_78324047delCA (intergenic),chr2 g.78324047_78324048delAA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 78536061 rs567599187 TAC T 13 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.1889,T/0.8111;DB;DBA=NA;PAF=TAC/0.1889,T/0.8111;NP=284;PC=0.002;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:4:4:108:12.68:6.54:6.14:1.00:1.00:1.00:60:10.2:0:0:70:58:23:chr2 g.78536062_78536063delAC (intergenic),chr2 g.78536062_78536063delAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 78647267 rs3033875 G C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.393,GAC/0.607,GACAC/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.393,GAC/0.607,GACAC/.;NP=339;NP=8;PC=0.090 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:C,G,I:4:4:1:0:2,1,1:72,36,34:7.25,0.00,3.15:3.63,0.00,1.58:3.63,0.00,1.58:0.51,0.00,0.00:0.51,0.00,0.00:0.51,0.00,0.00:60,60,60:86.5,0.0,0.0:0,0,0:0,0,0:76,137,70:30,13,80:0,0,0:chr2 g.78647266G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 78992949 rs58018115 T TTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=105;NP=21;PC=0.016;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TTG:3:4:3:0:1,2:31,101:0.00,6.85:0.00,5.01:0.00,1.84:0.00,0.51:0.00,0.51:0.00,0.89:60,60:49.0,31.0:0,1:0,0:93,70:37,80:0,16:-,chr2 g.78992949_78992950insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 79252950 rs369221 A G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1404,G/0.8596;Gene=REG3G/NM_001008387.2/1;CC=c.-112+51A>G;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.-112+51A>G;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.-12+51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:68.4:0:0:46:101:15:NM_001008387.2(REG3G) c.-112+51A>G,NM_001008387.2(REG3G) c.-112+51A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 79253029 rs385742 T G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6697,G/0.3303;Gene=REG3G/NM_001008387.2/1;CC=c.-111-80T>G;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.-111-80T>G;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.-12+130T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:G,T:9:9:0:0:3,6:87,156:7.64,0.00:7.64,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:60,60:94.7,25.8:0,0:0,0:131,84:20,66:9,28:NM_001008387.2(REG3G) c.-111-80T>G,-:0.29,-:NOT_FOUND,- 2 79253146 rs113446394 T C 70 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.9854,C/0.01458;Gene=REG3G/NM_001008387.2/1;CC=c.-74T>C;VC=5UTR;Gene=REG3G/NM_001270040.1/0;CC=c.-74T>C;VC=5UTR;Gene=REG3G/NM_198448.3/0;CC=c.-11-63T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:43:0:0:22,23:730,696:69.97,0.00:52.36,0.00:17.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,35.1:0,0:0,0:24,28:125,113:15,18:NM_001008387.2(REG3G) c.-74T>C,-:0.02,-:NOT_FOUND,- 2 79253150 rs369967 A G 79 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.6693,G/0.3307;Gene=REG3G/NM_001008387.2/1;CC=c.-70A>G;VC=5UTR;Gene=REG3G/NM_001270040.1/0;CC=c.-70A>G;VC=5UTR;Gene=REG3G/NM_198448.3/0;CC=c.-11-59A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:45:0:0:23,25:712,811:0.00,78.60:0.00,65.82:0.00,12.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.1,34.9:0,0:0,0:26,29:120,109:13,19:-,NM_001008387.2(REG3G) c.-70A>G:-,0.29:-,NOT_FOUND 2 79253296 . G . . NT END=79253838;NT GT ./. 2 79253375 rs425846 C T 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6701,T/0.3299;Gene=REG3G/NM_001008387.2/1;CC=c.76+80C>T;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.76+80C>T;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.76+80C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:0:0:0:12,15:329,465:0.00,45.64:0.00,0.00:0.00,45.64:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.0,45.5:0,0:0,0:108,105:42,46:31,21:-,NM_001008387.2(REG3G) c.76+80C>T:-,0.29:-,NOT_FOUND 2 79253818 rs412912 C G 92 nt VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.7925,G/0.2075;Gene=REG3G/NM_001008387.2/1;CC=c.77-21C>G;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.77-21C>G;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.77-21C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:60:53:0:0:27,32,1:828,944,11:0.00,91.91,-0.00:0.00,74.84,0.06:0.00,17.07,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.2,40.7,11.0:0,0,0:0,0,0:37,34,150:112,110,1:20,24,0:-,NM_001008387.2(REG3G) c.77-21C>G:-,0.19:-,0.201061 2 79253958 . G . . NT END=79254159;NT GT ./. 2 79253987 . ATAGGGGAAAGTCCATG A 7 nt VT=DEL;SST=Single;DP=45;NP=4;Gene=REG3G/NM_001008387.2/1;CC=c.195+31_195+46delTAGGGGAAAGTCCATG;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.195+31_195+46delTAGGGGAAAGTCCATG;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.195+31_195+46delTAGGGGAAAGTCCATG;VC=Intron;DM=REG3G/Lectin_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:ATAGGGGAAAGTCCATG,A:45:16:0:8:37,8:1161,125:0.00,7.47:0.00,3.06:0.00,4.40:0.00,0.97:0.00,0.91:0.00,1.00:60,43:6.4,3.6:0,0:0,0:119,109:24,41:22,9:-,NM_001008387.2(REG3G) c.195+31_195+46delTAGGGGAAAGTCCATG:-,NOT_FOUND:-,0.088494 2 79254005 . A C 19 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;Gene=REG3G/NM_001008387.2/1;CC=c.195+48A>C;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.195+48A>C;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.195+48A>C;VC=Intron;DM=REG3G/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:14:0:0:24,8:790,234:0.00,19.41:0.00,3.10:0.00,16.31:0.00,0.98:0.00,0.96:0.00,0.99:60,43:10.2,3.6:0,8:0,0:82,111:68,39:38,9:-,NM_001008387.2(REG3G) c.195+48A>C:-,NOT_FOUND:-,NOT_FOUND 2 79254029 rs571399258 C CA 13 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.7829,CA/0.2125;DB;DBA=NA;PAF=C/0.7829,A/0.004593;NP=8;PC=0.003;Gene=REG3G/NM_001008387.2/1;CC=c.195+72_195+73insA;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.195+72_195+73insA;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.195+72_195+73insA;VC=Intron;DM=REG3G/Lectin_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,CA:35:14:10:0:25,10:816,170:0.00,12.58:0.00,5.60:0.00,6.98:0.00,1.00:0.00,0.98:0.00,1.00:60,45:8.8,27.2:0,0:0,0:83,124:68,26:47,16:-,NM_001008387.2(REG3G) c.195+72_195+73insA:-,NOT_FOUND:-,NOT_FOUND 2 79254065 rs431912 C T 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=REG3G/NM_001008387.2/1;CC=c.196-95C>T;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.195+108C>T;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.196-95C>T;VC=Intron;DM=REG3G/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:23:0:0:25,13:857,369:0.00,32.48:0.00,15.42:0.00,17.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,73.4:0,0:0,0:68,31:83,120:42,11:-,NM_001008387.2(REG3G) c.196-95C>T:-,0.38:-,NOT_FOUND 2 79254101 rs396461 T G 64 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.5387,G/0.4613;Gene=REG3G/NM_001008387.2/1;CC=c.196-59T>G;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.195+144T>G;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.196-59T>G;VC=Intron;DM=REG3G/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:42:0:0:22,30:688,954:63.89,0.00:40.28,0.00:23.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.5,6.8:0,0:0,0:53,49:95,102:32,27:NM_001008387.2(REG3G) c.196-59T>G,-:0.43,-:NOT_FOUND,- 2 79254261 rs452267 T C 272 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.1404,C/0.8596;Gene=REG3G/NM_001008387.2/1;CC=c.297T>C;ProtCh=p.Y99=;VC=Silent;Gene=REG3G/NM_001270040.1/0;CC=c.195+304T>C;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.297T>C;ProtCh=p.Y99=;VC=Silent;DM=REG3G/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:48:0:0:72:2373:271.55:121.64:149.91:1.00:1.00:1.00:60:42.4:0:0:67:79:32:NM_001008387.2(REG3G) c.297T>C (p.(=)),NM_001008387.2(REG3G) c.297T>C (p.(=)):0.85,0.85:0.819237,0.819237 2 79254298 . G . . NT END=79254932;NT GT ./. 2 79254556 rs1561009 A T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6082,T/0.3918;Gene=REG3G/NM_001008387.2/1;CC=c.333+259A>T;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.196-377A>T;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.333+259A>T;VC=Intron;DM=REG3G/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,T:6:2:0:0:1,5:34,155:0.00,16.71:0.00,6.39:0.00,10.31:0.00,0.99:0.00,0.98:0.00,1.00:60,60:0.0,53.6:0,0:0,0:51,83:100,68:0,56:-,NM_001008387.2(REG3G) c.333+259A>T:-,0.42:-,NOT_FOUND 2 79255060 . G . . NT END=79255334;NT GT ./. 2 79255325 rs2290079 G C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.6082,C/0.3918;Gene=REG3G/NM_001008387.2/1;CC=c.461-10G>C;VC=Intron;Gene=REG3G/NM_001270040.1/0;CC=c.323-10G>C;VC=Intron;Gene=REG3G/NM_198448.3/0;CC=c.461-10G>C;VC=Intron;DM=REG3G/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:24:0:0:10,22:310,748:27.13,0.00:9.52,0.00:17.61,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:52.4,16.2:0,0:0,0:85,64:64,80:24,25:NM_001008387.2(REG3G) c.461-10G>C,-:0.42,-:0.415501,- 2 79255403 . G . . NT END=79312341;NT GT ./. 2 79255426 rs383969 G C 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1372,C/0.8628;PC=0.003;Gene=REG3G/NM_001008387.2/1;CC=c.*24G>C;VC=3UTR;Gene=REG3G/NM_001270040.1/0;CC=c.*24G>C;VC=3UTR;Gene=REG3G/NM_198448.3/0;CC=c.*24G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:11:0:0:18:628:71.39:26.30:45.08:1.00:1.00:1.00:60:39.3:0:0:88:52:20:NM_001008387.2(REG3G) c.*24G>C,NM_001008387.2(REG3G) c.*24G>C:0.85,0.85:0.826542,0.826542 2 79255588 rs374577 T C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.527,C/0.473;Gene=REG3G/NM_001008387.2/1;CC=c.*186T>C;VC=3UTR;Gene=REG3G/NM_001270040.1/0;CC=c.*186T>C;VC=3UTR;Gene=REG3G/NM_198448.3/0;CC=c.*186T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:0:0:0:4,1:105,34:11.29,0.00:0.00,0.00:11.29,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:28.2,33.0:0,0:0,0:130,84:20,67:12,0:NM_001008387.2(REG3G) c.*186T>C,-:0.43,-:NOT_FOUND,- 2 79312410 . C . . NT END=79312617;NT GT ./. 2 79312414 rs3739144 G A 117 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.3614,A/0.6386;Gene=REG1B/NM_006507.3/1;CC=c.434-5C>T;VC=Intron;DM=REG1B/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:21:0:0:32:1022:117.38:58.58:58.80:1.00:1.00:1.00:60:55.4:0:0:83:67:32:NM_006507.3(REG1B) c.434-5C>T,NM_006507.3(REG1B) c.434-5C>T:0.64,0.64:0.674227,0.674227 2 79312427 rs375479869 G C 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=REG1B/NM_006507.3/1;CC=c.434-18C>G;VC=Intron;DM=REG1B/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:19:0:0:15,17:489,542:46.44,0.00:16.98,0.00:29.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.5,36.4:0,0:0,0:114,76:37,75:31,28:NM_006507.3(REG1B) c.434-18C>G,-:NOT_FOUND,-:0.000077,- 2 79312730 . C . . NT END=79313492;NT GT ./. 2 79312982 rs6547221 A C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3419,C/0.6581;Gene=REG1B/NM_006507.3/1;CC=c.322-253T>G;VC=Intron;DM=REG1B/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:56.2:0:0:134:16:7:NM_006507.3(REG1B) c.322-253T>G,NM_006507.3(REG1B) c.322-253T>G:0.66,0.66:NOT_FOUND,NOT_FOUND 2 79313631 . C . . NT END=79313937;NT GT ./. 2 79313815 rs2073445 G T 70 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3335,T/0.6665;Gene=REG1B/NM_006507.3/1;CC=c.183+123C>A;VC=Intron;DM=REG1B/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:7:0:0:20:610:70.44:22.79:47.65:1.00:1.00:1.00:60:37.8:0:0:114:31:20:NM_006507.3(REG1B) c.183+123C>A,NM_006507.3(REG1B) c.183+123C>A:0.67,0.67:NOT_FOUND,NOT_FOUND 2 79314057 . C . . NT END=79314674;NT GT ./. 2 79314094 rs6723688 G T 97 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3331,A/.,T/0.6669;Gene=REG1B/NM_006507.3/1;CC=c.65-38C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:9:0:0:26:850:97.39:24.75:72.64:1.00:1.00:1.00:60:47.8:0:0:105:41:32:NM_006507.3(REG1B) c.65-38C>A,NM_006507.3(REG1B) c.65-38C>A:0.67,0.67:0.701061,0.701061 2 79314739 . G . . NT END=79347987;NT GT ./. 2 79314876 rs2073444 C A 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3444,A/0.6556;Gene=REG1B/NM_006507.3/1;CC=c.-46-92G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:0:0:0:22:731:83.56:0.00:83.56:1.00:0.00:1.00:60:37.3:0:0:88:61:30:NM_006507.3(REG1B) c.-46-92G>T,NM_006507.3(REG1B) c.-46-92G>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 79348052 . G . . NT END=79348687;NT GT ./. 2 79348129 rs566778592 GA G 27 sb;idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=258;Gene=REG1A/NM_002909.4/1;CC=c.64+93delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:19:5:1:12:8,1,10:223,31,298:0.00,2.10,27.06:0.00,-0.07,0.63:0.00,2.17,26.43:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:18.4,26.0,31.3:0,0,1:0,0,0:137,89,82:12,62,56:12,0,25:-,NM_002909.4(REG1A) c.64+79delA:-,NOT_FOUND:-,NOT_FOUND 2 79348807 . G . . NT END=79349113;NT GT ./. 2 79349252 . G . . NT END=79349966;NT GT ./. 2 79350079 . G . . NT END=79350273;NT GT ./. 2 79350186 rs3739142 G A 155 nt VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.6725,A/0.3275;Gene=REG1A/NM_002909.4/1;CC=c.434-88G>A;VC=Intron;DM=REG1A/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:24:0:0:41:1352:154.75:86.08:68.67:1.00:1.00:1.00:60:39.4:0:0:94:57:40:NM_002909.4(REG1A) c.434-88G>A,NM_002909.4(REG1A) c.434-88G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 2 79350342 . A . . NT END=79384351;NT GT ./. 2 79350347 rs12228 A G 151 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.01338,G/0.9866;Gene=REG1A/NM_002909.4/1;CC=c.*6A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:20:0:0:39:1324:150.93:51.81:99.12:1.00:1.00:1.00:60:42.1:0:0:99:41:16:NM_002909.4(REG1A) c.*6A>G,NM_002909.4(REG1A) c.*6A>G:0.98,0.98:0.968861,0.968861 2 79350505 rs12072 C T 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6731,T/0.3269;Gene=REG1A/NM_002909.4/1;CC=c.*164C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:278:32.09:0.00:32.09:1.00:0.00:1.00:60:37.9:0:0:108:43:22:NM_002909.4(REG1A) c.*164C>T,NM_002909.4(REG1A) c.*164C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 2 79384420 . C . . NT END=79384697;NT GT ./. 2 79384825 . C . . NT END=79385451;NT GT ./. 2 79385590 . C . . NT END=79385776;NT GT ./. 2 79385758 rs80188986 A C 45 nt VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=1949;Gene=REG3A/NM_138938.2/0;CC=c.195+19T>G;VC=Intron;Gene=REG3A/NM_002580.2/1;CC=c.195+19T>G;VC=Intron;Gene=REG3A/NM_138937.2/0;CC=c.195+19T>G;VC=Intron;DM=REG3A/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:99:68:0:0:81,18:2572,563:0.00,44.54:0.00,23.29:0.00,21.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,109.6:0,0:0,0:69,94:82,57:30,22:-,NM_002580.2(REG3A) c.195+19T>G:-,NOT_FOUND:-,NOT_FOUND 2 79385786 rs76653007 T C 36 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=NA;Gene=REG3A/NM_138938.2/0;CC=c.186A>G;ProtCh=p.T62=;VC=Silent;Gene=REG3A/NM_002580.2/1;CC=c.186A>G;ProtCh=p.T62=;VC=Silent;Gene=REG3A/NM_138937.2/0;CC=c.186A>G;ProtCh=p.T62=;VC=Silent;DM=REG3A/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:111:78:0:0:15,96:482,3191:36.30,0.00:18.87,0.00:17.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:125.5,9.8:0,0:0,0:115,66:35,80:20,39:NM_002580.2(REG3A) c.186A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 79385787 rs77686105 G A 38 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=NA;Gene=REG3A/NM_138938.2/0;CC=c.185C>T;ProtCh=p.T62I;VC=Missense;Gene=REG3A/NM_002580.2/1;CC=c.185C>T;ProtCh=p.T62I;VC=Missense;Gene=REG3A/NM_138937.2/0;CC=c.185C>T;ProtCh=p.T62I;VC=Missense;DM=REG3A/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:111:78:0:0:17,94:502,3049:37.78,0.00:18.47,0.00:19.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:103.3,9.0:0,0:0,0:117,63:34,80:13,36:NM_002580.2(REG3A) c.185C>T (p.Thr62Ile),-:NOT_FOUND,-:NOT_FOUND,- 2 79385896 . C . . NT END=79386455;NT GT ./. 2 79386532 . A . . NT END=79878682;NT GT ./. 2 79445477 rs58900850 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=4;NP=4;NP=5;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:2:A,G,T,D:5:3:0:1:1,2,1,1:34,70,33,31:0.00,6.94,2.98,2.78:0.00,1.73,3.03,-0.05:0.00,5.21,-0.05,2.83:0.00,0.46,0.00,0.00:0.00,0.80,0.00,0.00:0.00,0.87,0.00,0.00:60,60,60,60:25.0,83.0,33.0,0.0:0,1,0,0:0,0,0,0:81,110,130,20:68,38,21,130:0,10,0,0:-,chr2 g.79445476A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 79470129 rs138102746 C CACACAT 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CACACAT:4:3:4:0:4:128:14.71:7.40:7.30:1.00:1.00:1.00:70:34.5:0:0:18:59:9:chr2 g.79470129_79470130insACACAT (intergenic),chr2 g.79470129_79470130insACACAT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 79878785 . G . . NT END=79971512;NT GT ./. 2 79971709 . G . . NT END=80085138;NT GT ./. 2 79971957 rs6547269 C A 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5605,A/0.4395;Gene=CTNNA2/NM_001164883.1/0;CC=c.298+249C>A;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.298+249C>A;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.298+249C>A;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.400+249C>A;VC=Intron;DM=CTNNA2/Vinculin;DM=CTNNA2/Vinculin;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,C:8:0:0:0:6,2:187,68:19.60,0.00:0.00,0.00:19.60,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.7,11.5:0,0:0,0:78,114:72,37:46,10:NM_004389.3(CTNNA2) c.298+249C>A,-:0.4,-:NOT_FOUND,- 2 80021014 rs71385299 G GCA 7 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=38;NP=9;PC=0.003;Gene=CTNNA2/NM_001164883.1/0;CC=c.298+49338_298+49339insCA;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.298+49338_298+49339insCA;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.298+49338_298+49339insCA;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.400+49338_400+49339insCA;VC=Intron;DM=CTNNA2/Vinculin;DM=CTNNA2/Vinculin;DM=CTNNA2/Vinculin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:G,GCA:3:5:4:0:1,2:36,137:0.00,6.74:0.00,1.58:0.00,5.16:0.00,0.46:0.00,0.46:0.00,0.87:60,60:0.0,6.0:0,2:0,0:57,101:33,48:0,5:-,NM_004389.3(CTNNA2) c.298+49306_298+49307insCA:-,NOT_FOUND:-,NOT_FOUND 2 80085306 . G . . NT END=80096941;NT GT ./. 2 80097062 . G . . NT END=80101201;NT GT ./. 2 80101025 rs72918617 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8792,A/0.1208;Gene=CTNNA2/NM_001164883.1/0;CC=c.586-177G>A;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.586-177G>A;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.586-177G>A;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.688-177G>A;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:11,16:331,549:30.42,0.00:30.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:65.1,2.6:0,0:0,0:23,20:128,131:21,18:NM_004389.3(CTNNA2) c.586-177G>A,-:0.11,-:NOT_FOUND,- 2 80101040 rs72918621 A G 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.8678,G/0.1322;PC=0.020;Gene=CTNNA2/NM_001164883.1/0;CC=c.586-162A>G;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.586-162A>G;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.586-162A>G;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.688-162A>G;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:37:0:0:19,18:618,549:0.00,52.34:0.00,52.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.5,55.3:0,0:0,0:27,18:124,132:13,15:-,NM_004389.3(CTNNA2) c.586-162A>G:-,0.13:-,NOT_FOUND 2 80101321 rs61291641 T G 310 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=226;DB;DBA=NA;PAF=T/0.7198,A/.,G/0.2802;PC=0.990;Gene=CTNNA2/NM_001164883.1/0;CC=c.705T>G;ProtCh=p.A235=;VC=Silent;Gene=CTNNA2/NM_001282597.2/1;CC=c.705T>G;ProtCh=p.A235=;VC=Silent;Gene=CTNNA2/NM_004389.3/0;CC=c.705T>G;ProtCh=p.A235=;VC=Silent;Gene=CTNNA2/NM_001282598.1/0;CC=c.807T>G;ProtCh=p.A269=;VC=Silent;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:226:138:0:0:103,123:3282,4103:309.59,0.00:126.46,0.00:183.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,4.4:0,0:0,0:79,81:65,56:38,34:NM_004389.3(CTNNA2) c.705T>G (p.(=)),-:0.28,-:0.123392,- 2 80101469 . G . . NT END=80136719;NT GT ./. 2 80101511 rs76283151 T C 169 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.8462,C/0.1538;Gene=CTNNA2/NM_001164883.1/0;CC=c.852+43T>C;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.852+43T>C;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.852+43T>C;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.954+43T>C;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:109:37:0:0:1,57,51:8,1745,1480:-0.15,169.17,0.00:-0.03,49.72,0.00:-0.11,119.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:46.0,43.1,23.5:0,6,8:0,0,0:88,110,107:63,37,43:0,25,24:NM_004389.3(CTNNA2) c.852+43T>C,-:0.16,-:0.039075,- 2 80101515 rs56849709 CA C 14 idl,rn VT=DEL;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=162;PC=0.001;Gene=CTNNA2/NM_001164883.1/0;CC=c.852+59delA;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.852+59delA;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.852+59delA;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.954+59delA;VC=Intron;DM=CTNNA2/Vinculin;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,CA,T,I,C:99:35:6:7:4,81,1,6,7:48,2344,10,182,215:0.43,0.00,-0.25,11.59,14.24:-0.35,0.00,-0.09,0.78,2.04:0.78,0.00,-0.16,10.80,12.20:0.00,0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.00,0.99:60,60,60,60,60:63.5,34.6,129.0,17.2,27.4:0,0,0,0,0:0,0,0,0,0:59,112,88,104,80:90,33,63,47,70:18,23,0,19,49:-,NM_004389.3(CTNNA2) c.852+48delA:-,NOT_FOUND:-,0.194093 2 80136924 . G . . NT END=80529375;NT GT ./. 2 80204329 rs648361 C A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6514,A/0.3486,T/.;PC=0.001;Gene=CTNNA2/NM_001164883.1/0;CC=c.1056+67406C>A;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.1056+67406C>A;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.1056+67406C>A;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.1158+67406C>A;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,C:6:6:0:0:3,3:79,96:7.50,0.00:6.17,0.00:1.34,0.00:0.98,0.00:0.98,0.00:0.51,0.00:60,60:65.7,23.7:0,0:0,0:31,2:97,55:24,0:NM_004389.3(CTNNA2) c.1056+67406C>A,-:0.39,-:NOT_FOUND,- 2 80376900 rs397803910 TCA T 7 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=58;Gene=CTNNA2/NM_001164883.1/0;CC=c.1056+240018_1056+240019delCA;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.1056+240018_1056+240019delCA;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.1056+240018_1056+240019delCA;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.1158+240018_1158+240019delCA;VC=Intron;DM=CTNNA2/Vinculin;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:TCA,T:8:8:0:3:5,3:164,82:0.00,7.33:0.00,4.78:0.00,2.55:0.00,0.67:0.00,0.67:0.00,0.85:60,60:17.6,40.0:0,0:0,0:34,47:85,104:14,1:-,NM_004389.3(CTNNA2) c.1056+239978_1056+239979delCA:-,NOT_FOUND:-,NOT_FOUND 2 80530945 . T . . NT END=80532184;NT GT ./. 2 80532032 rs56174873 CA C 10 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=3;PC=1.000;Gene=CTNNA2/NM_001164883.1/0;CC=c.1057-88281delA;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.1057-88281delA;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.1057-88281delA;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.1159-88281delA;VC=Intron;DM=CTNNA2/Vinculin;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:CA,I,C:13:17:4:7:6,3,4:206,130,214:0.00,8.56,10.50:0.00,8.56,10.50:0.00,0.00,0.00:0.00,0.00,0.74:0.00,0.00,0.74:0.00,0.00,0.00:60,60,60:36.8,59.7,62.8:0,1,3:0,0,0:58,56,23:90,84,128:23,12,15:-,NM_004389.3(CTNNA2) c.1057-88303delA:-,NOT_FOUND:-,NOT_FOUND 2 80532449 . G . . NT END=80540503;NT GT ./. 2 80540780 . G . . NT END=80620335;NT GT ./. 2 80601807 rs61622268 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6907,T/0.3093;PC=0.061;Gene=CTNNA2/NM_001164883.1/0;CC=c.1057-18529C>T;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.1057-18529C>T;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.1057-18529C>T;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.1159-18529C>T;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.-48-18529C>T;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.94-18529C>T;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,T:9:8:0:0:5,4:174,136:0.00,12.82:0.00,6.08:0.00,6.74:0.00,0.85:0.00,0.98:0.00,0.97:60,60:26.0,36.5:0,0:0,0:75,77:76,73:22,4:-,NM_004389.3(CTNNA2) c.1057-18529C>T:-,NOT_FOUND:-,NOT_FOUND 2 80620417 . G . . NT END=80646573;NT GT ./. 2 80646727 . G . . NT END=80772106;NT GT ./. 2 80772200 . G . . NT END=80773031;NT GT ./. 2 80773189 . G . . NT END=80782817;NT GT ./. 2 80783019 . G . . NT END=80801287;NT GT ./. 2 80801042 rs1344798 T C 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.02656,C/0.9734;PC=0.001;Gene=CTNNA2/NM_001164883.1/0;CC=c.1742-246T>C;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.1742-246T>C;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.1742-246T>C;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.1844-246T>C;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.638-246T>C;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.779-246T>C;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:295:33.79:33.79:0.00:1.00:1.00:0.00:60:86.1:0:0:37:113:37:NM_004389.3(CTNNA2) c.1742-246T>C,NM_004389.3(CTNNA2) c.1742-246T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 80801052 rs6719427 G C 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5214,C/0.4786;Gene=CTNNA2/NM_001164883.1/0;CC=c.1742-236G>C;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.1742-236G>C;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.1742-236G>C;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.1844-236G>C;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.638-236G>C;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.779-236G>C;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:283:32.56:32.56:0.00:1.00:1.00:0.00:60:86.1:0:0:47:103:37:NM_004389.3(CTNNA2) c.1742-236G>C,NM_004389.3(CTNNA2) c.1742-236G>C:0.51,0.51:NOT_FOUND,NOT_FOUND 2 80801346 rs2228460 T C 183 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.763,A/.,C/0.237;PC=0.985;Gene=CTNNA2/NM_001164883.1/0;CC=c.1800T>C;ProtCh=p.V600=;VC=Silent;Gene=CTNNA2/NM_001282597.2/1;CC=c.1800T>C;ProtCh=p.V600=;VC=Silent;Gene=CTNNA2/NM_004389.3/0;CC=c.1800T>C;ProtCh=p.V600=;VC=Silent;Gene=CTNNA2/NM_001282598.1/0;CC=c.1902T>C;ProtCh=p.V634=;VC=Silent;Gene=CTNNA2/NM_001282600.1/0;CC=c.696T>C;ProtCh=p.V232=;VC=Silent;Gene=CTNNA2/NM_001282599.1/0;CC=c.837T>C;ProtCh=p.V279=;VC=Silent;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:113:85:0:0:58,55:1892,1738:182.87,0.00:94.87,0.00:88.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,8.9:0,0:0,0:81,63:67,83:36,43:NM_004389.3(CTNNA2) c.1800T>C (p.(=)),-:0.29,-:0.254261,- 2 80801440 . G . . NT END=80808830;NT GT ./. 2 80801524 rs2276661 T C 66 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.8421,C/0.1579;PC=0.004;Gene=CTNNA2/NM_001164883.1/0;CC=c.1893+85T>C;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.1893+85T>C;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.1893+85T>C;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.1995+85T>C;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.789+85T>C;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.930+85T>C;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:9:0:0:23,29:701,952:65.58,0.00:6.01,0.00:59.57,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:37.7,6.4:0,0:0,0:97,107:53,44:31,29:NM_004389.3(CTNNA2) c.1893+85T>C,-:0.14,-:NOT_FOUND,- 2 80808945 . G . . NT END=80816428;NT GT ./. 2 80809027 rs17019401 C G 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6438,G/0.3562;Gene=CTNNA2/NM_001164883.1/0;CC=c.2007+83C>G;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.2007+83C>G;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.2007+83C>G;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.2109+83C>G;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.903+83C>G;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.1044+83C>G;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:15:1:0:0:7,8:222,267:0.00,26.02:0.00,-0.33:0.00,26.35:0.00,1.00:0.00,0.69:0.00,1.00:60,60:11.3,40.5:0,0:0,0:109,142:42,8:24,6:-,NM_004389.3(CTNNA2) c.2007+83C>G:-,0.41:-,NOT_FOUND 2 80809179 rs2287513 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7143,T/0.2857;Gene=CTNNA2/NM_001164883.1/0;CC=c.2007+235C>T;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.2007+235C>T;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.2007+235C>T;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.2109+235C>T;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.903+235C>T;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.1044+235C>T;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:7:0:0:0:4,3:114,100:0.00,9.36:0.00,0.00:0.00,9.36:0.00,0.69:0.00,0.00:0.00,0.69:60,60:36.8,33.3:0,0:0,0:81,116:68,35:59,0:-,NM_004389.3(CTNNA2) c.2007+235C>T:-,0.34:-,NOT_FOUND 2 80816611 . G . . NT END=80831198;NT GT ./. 2 80816763 rs216630 C G 43 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4631,G/0.5369;Gene=CTNNA2/NM_001164883.1/0;CC=c.2189+153C>G;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.2189+153C>G;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.2189+153C>G;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.2291+153C>G;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.1085+153C>G;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.1226+153C>G;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:0:0:0:9,14:265,431:0.00,43.09:0.00,0.00:0.00,43.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.4,40.0:0,0:0,0:111,117:40,34:19,25:-,NM_004389.3(CTNNA2) c.2189+153C>G:-,0.58:-,NOT_FOUND 2 80831009 rs216661 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4744,G/0.5256;PC=0.240;Gene=CTNNA2/NM_001164883.1/0;CC=c.2190-190A>G;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.2190-190A>G;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.2190-190A>G;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.2292-190A>G;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.1086-190A>G;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.1227-190A>G;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,C,G:7:7:0:0:3,1,3:98,12,97:0.00,0.66,9.30:0.00,0.66,9.30:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,60:3.3,54.0,36.7:0,0,0:0,0,0:44,27,105:106,123,46:22,0,8:-,NM_004389.3(CTNNA2) c.2190-190A>G:-,0.56:-,NOT_FOUND 2 80831305 . G . . NT END=80835308;NT GT ./. 2 80831481 rs2302875 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7428,A/0.2572;Gene=CTNNA2/NM_001164883.1/0;CC=c.2295+177G>A;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.2295+177G>A;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.2295+177G>A;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.2397+177G>A;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.1191+177G>A;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.1332+177G>A;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:6:0:0:0:3,3:96,104:9.22,0.00:0.00,0.00:9.22,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:38.7,0.0:0,0:0,0:141,80:9,71:9,36:NM_004389.3(CTNNA2) c.2295+177G>A,-:0.32,-:NOT_FOUND,- 2 80835444 . G . . NT END=80846209;NT GT ./. 2 80846147 rs71386643 C CT 31 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5559,CT/0.4441,CTT/.;DB;DBA=NA;PAF=C/0.5559,CT/0.4441,CTT/.;NP=11;PC=0.861;Gene=CTNNA2/NM_001164883.1/0;CC=c.2295+14856_2295+14857insT;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.2431-50_2431-49insT;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.2430+10717_2430+10718insT;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.2532+10717_2532+10718insT;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.1326+10717_1326+10718insT;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.1467+10717_1467+10718insT;VC=Intron;DM=CTNNA2/Vinculin;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:27:28:12:4:13,11,3:415,362,116:0.00,31.12,6.26:0.00,29.86,6.36:0.00,1.26,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.85,0.00:60,60,60:47.2,71.5,48.0:1,1,1:0,0,0:72,51,68:78,79,69:45,38,14:-,NM_004389.3(CTNNA2) c.2430+10704_2430+10705insT:-,NOT_FOUND:-,NOT_FOUND 2 80846354 . G . . NT END=80874709;NT GT ./. 2 80846681 rs3815649 G C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4475,C/0.5525;Gene=CTNNA2/NM_001164883.1/0;CC=c.2295+15377G>C;VC=Intron;Gene=CTNNA2/NM_001282597.2/1;CC=c.2574+328G>C;VC=Intron;Gene=CTNNA2/NM_004389.3/0;CC=c.2430+11238G>C;VC=Intron;Gene=CTNNA2/NM_001282598.1/0;CC=c.2532+11238G>C;VC=Intron;Gene=CTNNA2/NM_001282600.1/0;CC=c.1326+11238G>C;VC=Intron;Gene=CTNNA2/NM_001282599.1/0;CC=c.1467+11238G>C;VC=Intron;DM=CTNNA2/Vinculin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,G:5:0:0:0:4,1:138,35:14.62,0.00:0.00,0.00:14.62,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:37.8,0.0:0,0:0,0:96,96:54,52:25,0:NM_004389.3(CTNNA2) c.2430+11238G>C,-:0.59,-:NOT_FOUND,- 2 80874998 . G . . NT END=84650869;NT GT ./. 2 81108673 rs12993963 C A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=145;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,C:4:3:0:0:3,1:93,34:9.75,0.00:2.70,0.00:7.05,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,60:99.3,78.0:0,0:0,0:48,30:102,121:35,0:chr2 g.81108672C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 81421702 rs1982543 C T 36 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.5956,T/0.4044;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:3:0:0:9,11:272,368:0.00,36.07:0.00,6.69:0.00,29.39:0.00,1.00:0.00,0.92:0.00,1.00:60,60:3.3,43.2:0,0:0,0:124,94:27,57:20,17:-,chr2 g.81421701C>T (intergenic):-,0.38:-,NOT_FOUND 2 81421951 rs13430688 A G 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2216,G/0.7784;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:5:0:0:7:190:22.26:15.81:6.45:1.00:1.00:1.00:60:54.3:0:0:65:86:33:chr2 g.81421950A>G (intergenic),chr2 g.81421950A>G (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 81422135 rs6722134 G T 140 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.2218,T/0.7782;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:32:0:0:39:1215:140.05:83.43:56.62:1.00:1.00:1.00:60:35.3:0:0:53:98:30:chr2 g.81422134G>T (intergenic),chr2 g.81422134G>T (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 81422590 rs60567335 G A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7204,A/0.2796;PC=0.094 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:8:6:0:0:5,3:144,97:14.46,0.00:11.41,0.00:3.05,0.00:0.97,0.00:1.00,0.00:0.88,0.00:60,60:72.2,97.3:0,0:0,0:58,25:93,122:47,16:chr2 g.81422589G>A (intergenic),-:0.29,-:NOT_FOUND,- 2 81422631 rs13422040 T G 47 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2009,G/0.7991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:412:47.39:45.51:1.89:1.00:1.00:1.00:60:79.9:0:0:39:112:13:chr2 g.81422630T>G (intergenic),chr2 g.81422630T>G (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 2 81422682 rs7573080 C G 66 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.1977,G/0.8023;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:17:0:0:18:572:65.73:62.05:3.68:1.00:1.00:1.00:60:82.7:0:0:81:69:30:chr2 g.81422681C>G (intergenic),chr2 g.81422681C>G (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 2 81422771 rs7573393 G A 100 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.2204,A/0.7796;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:19:0:0:26:879:100.30:54.78:45.52:1.00:1.00:1.00:60:39.4:0:0:41:104:12:chr2 g.81422770G>A (intergenic),chr2 g.81422770G>A (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 81423277 rs897852 T C 10 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1979,C/0.8021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:1:0:0:4:84:10.23:1.49:8.74:1.00:1.00:1.00:60:33.8:0:0:123:28:21:chr2 g.81423276T>C (intergenic),chr2 g.81423276T>C (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 2 81423752 rs1962680 T C 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.5194,C/0.4806;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:20:0:0:17,11:568,340:56.75,0.00:29.28,0.00:27.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,14.6:0,0:0,0:68,90:81,61:17,22:chr2 g.81423751T>C (intergenic),-:0.45,-:NOT_FOUND,- 2 81424158 rs6547348 G T 108 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.1993,T/0.8007;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A,T:32:28:0:0:1,31:12,933:0.37,107.60:0.37,73.01:0.00,34.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,36.4:0,0:0,0:122,48:27,92:0,22:chr2 g.81424157G>T (intergenic),chr2 g.81424157G>T (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 2 81425437 rs4852611 C A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2256,A/0.7744;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:137:15.61:7.80:7.80:1.00:1.00:1.00:60:41.8:0:0:79:71:13:chr2 g.81425436C>A (intergenic),chr2 g.81425436C>A (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 81427036 rs1809229 C T 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.2274,T/0.7726;PC=0.989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:9:0:0:18:537:62.16:19.86:42.30:1.00:1.00:1.00:60:58.3:0:0:79:60:32:chr2 g.81427035C>T (intergenic),chr2 g.81427035C>T (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 2 81427187 rs2010447 C T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2045,T/0.7955;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:131:15.01:7.35:7.65:1.00:1.00:1.00:60:32.8:0:0:50:99:28:chr2 g.81427186C>T (intergenic),chr2 g.81427186C>T (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 2 81427526 rs2010433 C T 105 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.2256,T/0.7744;PC=0.122 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:18:0:0:28:915:104.85:51.62:53.23:1.00:1.00:1.00:60:44.5:0:0:65:85:30:chr2 g.81427525C>T (intergenic),chr2 g.81427525C>T (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 81428075 rs6724708 C T 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2256,T/0.7744;PC=0.917 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G,T:16:14:0:0:1,15:5,485:0.13,55.21:0.13,39.71:0.00,15.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:77.0,33.6:0,0:0,0:43,42:107,109:0,26:chr2 g.81428074C>T (intergenic),chr2 g.81428074C>T (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 81618770 rs7608846 C G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2604,G/0.7396;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:5:3:0:0:2,3:70,105:0.00,10.47:0.00,3.56:0.00,6.91:0.00,0.78:0.00,0.94:0.00,0.78:60,60:0.0,63.7:0,0:0,0:92,82:58,64:41,7:-,chr2 g.81618769C>G (intergenic):-,0.72:-,NOT_FOUND 2 81896311 . TGTGA A,T 10 nt VT=DEL;SST=Single;DP=6;NP=46 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:37:A,I,T:6:2:1:3:2,1,3:68,34,93:6.80,3.10,9.83:0.00,0.00,7.05:6.80,3.10,2.78:0.00,0.00,0.98:0.00,0.00,0.79:0.00,0.00,0.51:60,60,70:62.5,167.0,3.7:0,0,0:0,0,0:90,120,66:61,24,76:59,0,11:chr2 g.81896311_81896314delTGTG (intergenic),chr2 g.81896312_81896315delGTGA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 82111399 rs70937475 GGTGTGTGTGTGT G 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=135;PC=0.008;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:GGTGTGTGTGTGT,G:4:4:0:3:2,2:65,66:0.00,6.35:0.00,3.02:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,15.5:0,0:0,0:82,85:68,64:24,17:-,chr2 g.82111400_82111411delGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 82211229 rs57488127 A AGTGTGTGT 17 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=84;PC=0.003;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,AGTGTGTGT:6:3:5:0:1,5:33,159:0.00,17.11:0.00,4.87:0.00,12.24:0.00,0.99:0.00,1.00:0.00,1.00:60,60:24.0,31.6:0,0:0,0:108,58:18,93:0,12:-,chr2 g.82211229_82211230insGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 82211287 rs7593732 A C 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3189,C/0.6811;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:147:17.08:4.81:12.27:1.00:1.00:1.00:60:51.4:0:0:112:38:12:chr2 g.82211286A>C (intergenic),chr2 g.82211286A>C (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 2 82281991 rs530705527 T TACACACACAA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;PC=0.169;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:T,TACACACACAA,D:4:4:2:1:1,2,1:34,67,33:0.00,6.75,3.05:0.00,5.16,3.11:0.00,1.59,-0.06:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.79,0.00:60,60,60:117.0,0.0,56.0:0,0,0:0,0,0:10,30,72:125,105,79:0,2,0:-,chr2 g.82281991_82281992insACACACACAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 82296654 rs76611642 C T 10 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8283,T/0.1717;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,100:0.00,10.45:0.00,8.88:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:23.0,158.7:0,0:0,0:108,32:43,119:0,9:-,chr2 g.82296653C>T (intergenic):-,0.22:-,NOT_FOUND 2 82296656 rs75455628 C T 11 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8283,T/0.1717;NP=62;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:4:4:0:0:1,3:27,101:0.00,10.55:0.00,8.98:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:23.0,158.7:0,0:0,0:110,34:41,117:0,9:-,chr2 g.82296655C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 82296682 rs56164446 C T 11 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8403,T/0.1597;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:4:0:0:1,3:33,102:0.00,10.65:0.00,9.08:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:23.0,158.7:0,1:0,0:136,60:15,91:0,9:-,chr2 g.82296681C>T (intergenic):-,0.16:-,NOT_FOUND 2 82296707 rs35857302 C T 9 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7985,T/0.2015;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,T:4:3:0:0:1,3:23,83:0.00,8.75:0.00,7.57:0.00,1.18:0.00,0.85:0.00,0.99:0.00,0.95:60,60:93.0,158.7:0,0:0,0:97,83:54,68:0,11:-,chr2 g.82296706C>T (intergenic):-,0.23:-,NOT_FOUND 2 83123033 . ATGTGTG A 15 sb;idl,rn VT=DEL;SST=Single;DP=6;NP=3;PC=0.007;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:6:0:6:4:201:14.60:16.40:-1.80:0.93:0.93:0.97:70:2.8:2:0:33:73:7:chr2 g.83123034_83123039delTGTGTG (intergenic),chr2 g.83123034_83123039delTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 83634754 rs72464285 CTG C 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CTG/0.4788,C/0.5212;DB;DBA=NA;PAF=CTG/0.4788,C/0.5212;NP=109;PC=0.011;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CTG,I,C:8:7:1:3:4,1,3:132,30,92:0.00,2.34,8.54:0.00,-0.17,7.07:0.00,2.52,1.47:0.00,0.00,0.67:0.00,0.00,0.95:0.00,0.00,0.85:60,60,70:46.5,10.0,92.0:0,0,0:0,0,0:41,65,29:70,84,114:27,0,29:-,chr2 g.83634755_83634756delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 83710035 rs371902980 AAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=14;PC=0.001;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:AAC,A:3:3:0:3:1,2:34,100:0.00,6.85:0.00,1.49:0.00,5.36:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,16.5:0,1:0,0:85,54:66,87:0,9:-,chr2 g.83710036_83710037delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 83844654 rs71390141 C CTG 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;NP=41;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,G,CTG:5:4:2:0:2,1,2:44,35,68:0.00,3.09,6.52:0.00,3.23,3.37:0.00,-0.14,3.15:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.87:60,60,60:12.5,83.0,22.5:0,0,0:0,0,0:29,5,91:99,110,59:17,0,2:-,chr2 g.83844654_83844655insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 84165119 . TTGTGTGTGTG T 7 nt VT=DEL;SST=Single;DP=5;NP=1;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TTGTGTGTGTG,T:4:5:0:4:1,3:34,93:0.00,7.05:0.00,5.23:0.00,1.83:0.00,0.78:0.00,0.78:0.00,0.73:60,60:0.0,50.0:0,1:0,0:70,55:46,93:0,19:-,chr2 g.84165120_84165129delTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 84252880 rs70949870 T TAC 17 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=117;NP=2;PC=0.013;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:T,TAC:8:7:5:0:3,5:97,165:0.00,16.59:0.00,11.55:0.00,5.03:0.00,0.97:0.00,1.00:0.00,0.98:60,60:0.0,27.8:0,0:0,0:133,38:17,113:9,32:-,chr2 g.84252880_84252881insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 84252955 rs11126940 A C 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7171,C/0.2829 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:4:3:0:0:1,3:31,101:0.00,10.55:0.00,3.25:0.00,7.30:0.00,0.85:0.00,0.99:0.00,0.99:60,60:69.0,33.7:0,0:0,0:88,83:63,66:0,32:-,chr2 g.84252954A>C (intergenic):-,0.26:-,NOT_FOUND 2 84451240 rs77812398 T TACAC 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7075,TACAC/.,TACACAC/0.2925;DB;DBA=NA;PAF=T/0.7075,TACACAC/0.2925;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=12;NP=13;NP=16;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TACAC:4:3:3:0:1,3:34,99:0.00,10.35:0.00,5.13:0.00,5.23:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,13.7:0,0:0,0:60,92:34,58:0,15:-,chr2 g.84451240_84451241insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 84518438 rs1968722 T C 46 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3644,C/0.6356;PC=0.001;Gene=FUNDC2P2/NR_003663.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:4:0:0:13:394:45.59:7.20:38.38:1.00:1.00:1.00:60:34.4:0:0:112:39:27:NR_003663.1(FUNDC2P2) n.633T>C,NR_003663.1(FUNDC2P2) n.633T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 84650707 rs2832 A G 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1979,G/0.8021;PC=0.012;Gene=SUCLG1/NM_003849.3/1;CC=c.*163T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:356:41.32:41.32:0.00:1.00:1.00:0.00:60:35.0:0:0:67:83:29:NM_003849.3(SUCLG1) c.*163T>C,NM_003849.3(SUCLG1) c.*163T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 2 84650856 . A AT 9 rn VT=INS;SST=Single;DP=48;NP=1;Gene=SUCLG1/NM_003849.3/1;CC=c.*13dupA;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,AT:48:37:4:0:44,4:1396,127:0.00,8.64:0.00,5.27:0.00,3.37:0.00,0.55:0.00,0.88:0.00,0.83:60,60:9.8,16.0:0,0:0,0:58,42:83,91:34,12:-,NM_003849.3(SUCLG1) c.*13dupA:-,NOT_FOUND:-,NOT_FOUND 2 84650897 . C . . NT END=84652538;NT GT ./. 2 84652728 . C . . NT END=84658631;NT GT ./. 2 84658784 . C . . NT END=84660475;NT GT ./. 2 84660240 rs957786 G A 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1981,A/0.8019;Gene=SUCLG1/NM_003849.3/1;CC=c.673+236C>T;VC=Intron;DM=SUCLG1/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:253:29.11:29.11:0.00:1.00:1.00:0.00:60:41.4:0:0:78:72:47:NM_003849.3(SUCLG1) c.673+236C>T,NM_003849.3(SUCLG1) c.673+236C>T:0.83,0.83:0.802672,0.802672 2 84660560 . C . . NT END=84668170;NT GT ./. 2 84660870 rs11126963 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.01937,A/0.9806;PC=0.001;Gene=SUCLG1/NM_003849.3/1;CC=c.590-311C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:37.5:0:0:131:19:16:NM_003849.3(SUCLG1) c.590-311C>T,NM_003849.3(SUCLG1) c.590-311C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 84668229 . C . . NT END=84668370;NT GT ./. 2 84668584 . C . . NT END=84670407;NT GT ./. 2 84670525 . C . . NT END=84676772;NT GT ./. 2 84676877 . C . . NT END=84686296;NT GT ./. 2 84676886 . TAAAA T 8 idl,rn VT=DEL;SST=Single;DP=27;PC=0.006;Gene=SUCLG1/NM_003849.3/1;CC=c.98-14_98-11delTTTT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:TAAAA,T:19:16:0:13:15,4:438,335:0.00,8.15:0.00,0.10:0.00,8.05:0.00,0.66:0.00,0.86:0.00,0.89:60,60:3.1,212.8:0,8:0,0:137,102:13,40:10,13:-,NM_003849.3(SUCLG1) c.98-14_98-11delTTTT:-,NOT_FOUND:-,NOT_FOUND 2 84686394 . A . . NT END=84744950;NT GT ./. 2 84745176 . G . . NT END=84752688;NT GT ./. 2 84752863 . G . . NT END=84756027;NT GT ./. 2 84753094 rs12618403 T C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.02516,C/0.9748;Gene=DNAH6/NM_001370.1/1;CC=c.399+232T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:177:20.08:0.00:20.08:1.00:0.00:1.00:60:44.6:0:0:120:30:15:NM_001370.1(DNAH6) c.399+232T>C,NM_001370.1(DNAH6) c.399+232T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 84755996 rs67469465 A AT 116 idl,rn VT=INS;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.09864,AT/0.6779,ATT/0.2009;DB;DBA=NA;PAF=A/0.09864,AT/0.6779,ATT/0.2009,ATTT/0.02256,ATTTT/.;NP=10;NP=176;PC=0.055;Gene=DNAH6/NM_001370.1/1;CC=c.400-21dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AT,D:44:50:46:1:8,1,34,1:262,10,1452,32:0.00,0.10,115.71,1.87:0.00,0.12,85.90,1.89:0.00,-0.02,29.80,-0.02:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:49.6,10.0,51.4,34.0:0,0,12,0:0,0,0,0:100,141,65,15:49,10,82,136:45,0,27,0:-,NM_001370.1(DNAH6) c.400-32_400-31insT:-,NOT_FOUND:-,NOT_FOUND 2 84756049 rs4832089 G A 271 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.05531,A/0.9447;Gene=DNAH6/NM_001370.1/1;CC=c.421G>A;ProtCh=p.V141M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:A,C,T:78:52:0:0:74,2,2:2378,21,21:271.31,0.50,0.51:132.99,0.50,0.51:138.32,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:70,60,60:39.4,62.0,46.5:0,0,0:0,0,0:44,85,121:102,66,22:25,38,18:NM_001370.1(DNAH6) c.421G>A (p.Val141Met),NM_001370.1(DNAH6) c.421G>A (p.Val141Met):0.95,0.95:0.923565,0.923565 2 84756291 . G . . NT END=84771356;NT GT ./. 2 84756341 rs4832090 T G 119 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.02556,G/0.9744;Gene=DNAH6/NM_001370.1/1;CC=c.662+51T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:8:0:0:32:1035:118.70:19.28:99.42:1.00:1.00:1.00:60:42.6:0:0:100:48:28:NM_001370.1(DNAH6) c.662+51T>G,NM_001370.1(DNAH6) c.662+51T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 84756450 rs4832091 C A 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.05631,A/0.9437;Gene=DNAH6/NM_001370.1/1;CC=c.662+160C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:296:34.29:0.00:34.29:1.00:0.00:1.00:60:53.2:0:0:105:45:34:NM_001370.1(DNAH6) c.662+160C>A,NM_001370.1(DNAH6) c.662+160C>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 84771480 rs1037863 G A 168 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.07049,A/0.9295;Gene=DNAH6/NM_001370.1/1;CC=c.786G>A;ProtCh=p.L262=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A:45:28:0:0:45:1464:167.86:78.26:89.59:1.00:1.00:1.00:60:46.1:0:0:78:55:32:NM_001370.1(DNAH6) c.786G>A (p.(=)),NM_001370.1(DNAH6) c.786G>A (p.(=)):0.94,0.94:0.911262,0.911262 2 84771567 rs1542477 C T 125 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.1833,T/0.8167;PC=0.987;Gene=DNAH6/NM_001370.1/1;CC=c.873C>T;ProtCh=p.S291=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:14:0:0:34:1091:125.23:41.26:83.97:1.00:1.00:1.00:60:51.2:0:0:82:68:34:NM_001370.1(DNAH6) c.873C>T (p.(=)),NM_001370.1(DNAH6) c.873C>T (p.(=)):0.85,0.85:0.809294,0.809294 2 84771625 . G . . NT END=84774391;NT GT ./. 2 84774527 . G . . NT END=84774615;NT GT ./. 2 84774737 . G . . NT END=84775411;NT GT ./. 2 84774893 rs12474026 G A 83 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.1833,A/0.8167;Gene=DNAH6/NM_001370.1/1;CC=c.1186+157G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:0:0:0:22:728:83.27:0.00:83.27:1.00:0.00:1.00:60:38.3:0:0:111:37:26:NM_001370.1(DNAH6) c.1186+157G>A,NM_001370.1(DNAH6) c.1186+157G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 2 84775542 . G . . NT END=84777012;NT GT ./. 2 84775673 rs60315854 A T 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.6617,T/0.3383;PC=0.001;Gene=DNAH6/NM_001370.1/1;CC=c.1316+132A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:19:3:0:0:10,9:319,258:0.00,24.36:0.00,1.41:0.00,22.95:0.00,1.00:0.00,0.87:0.00,1.00:60,60:19.5,30.6:0,0:0,0:118,99:31,51:17,25:-,NM_001370.1(DNAH6) c.1316+132A>T:-,0.39:-,NOT_FOUND 2 84777182 . G . . NT END=84780041;NT GT ./. 2 84780159 . G . . NT END=84784858;NT GT ./. 2 84784716 rs6729657 G A 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1016,A/0.8984;PC=0.385;Gene=DNAH6/NM_001370.1/1;CC=c.1603-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:305:35.22:35.22:0.00:1.00:1.00:0.00:53:30.5:0:0:72:77:19:NM_001370.1(DNAH6) c.1603-143G>A,NM_001370.1(DNAH6) c.1603-143G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 2 84785060 . G . . NT END=84800590;NT GT ./. 2 84800605 rs11891970 C A 140 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.07029,A/0.9297;PC=0.992;Gene=DNAH6/NM_001370.1/1;CC=c.1818C>A;ProtCh=p.A606=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:28:0:0:36:1224:139.53:70.24:69.30:1.00:1.00:1.00:60:42.9:0:0:67:78:34:NM_001370.1(DNAH6) c.1818C>A (p.(=)),NM_001370.1(DNAH6) c.1818C>A (p.(=)):0.94,0.94:0.908811,0.908811 2 84800712 . G . . NT END=84804380;NT GT ./. 2 84800898 rs13002679 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6751,C/0.3249;Gene=DNAH6/NM_001370.1/1;CC=c.1924+187T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:5:0:0:0:4,1:136,32:14.42,0.00:0.00,0.00:14.42,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:34.0,0.0:0,0:0,0:93,136:58,14:16,0:NM_001370.1(DNAH6) c.1924+187T>C,-:0.32,-:NOT_FOUND,- 2 84804533 . G . . NT END=84806650;NT GT ./. 2 84806553 rs6547569 G A 83 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.02516,A/0.9748;Gene=DNAH6/NM_001370.1/1;CC=c.2077-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:25:0:0:25:713:83.06:74.63:8.43:1.00:1.00:1.00:60:41.5:0:0:39:109:34:NM_001370.1(DNAH6) c.2077-98G>A,NM_001370.1(DNAH6) c.2077-98G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 84806804 . G . . NT END=84811122;NT GT ./. 2 84806942 rs6547570 C G 53 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.1709,G/0.8291;PC=0.001;Gene=DNAH6/NM_001370.1/1;CC=c.2229+139C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:1:0:0:14:466:53.28:1.94:51.34:1.00:1.00:1.00:60:38.1:0:0:109:42:32:NM_001370.1(DNAH6) c.2229+139C>G,NM_001370.1(DNAH6) c.2229+139C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 84811375 . G . . NT END=84815949;NT GT ./. 2 84816079 . G . . NT END=84821095;NT GT ./. 2 84821210 . G . . NT END=84822769;NT GT ./. 2 84822715 rs6761632 C T 123 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.1338,T/0.8662;Gene=DNAH6/NM_001370.1/1;CC=c.2725-55C>T;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:28:0:0:32:1077:122.96:94.28:28.68:1.00:1.00:1.00:60:43.5:0:0:48:96:25:NM_001370.1(DNAH6) c.2725-55C>T,NM_001370.1(DNAH6) c.2725-55C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 84822914 . G . . NT END=84831462;NT GT ./. 2 84831265 rs1460709 T G 25 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1338,G/0.8662;Gene=DNAH6/NM_001370.1/1;CC=c.2869-198T>G;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:216:24.93:22.99:1.94:1.00:1.00:1.00:60:42.7:0:0:56:95:33:NM_001370.1(DNAH6) c.2869-198T>G,NM_001370.1(DNAH6) c.2869-198T>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 84831676 . G . . NT END=84832623;NT GT ./. 2 84831767 rs7570369 G A 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.1913,A/0.8087;Gene=DNAH6/NM_001370.1/1;CC=c.3081+92G>A;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:1:0:0:15:465:53.63:3.58:50.05:1.00:1.00:1.00:60:39.9:0:0:91:60:33:NM_001370.1(DNAH6) c.3081+92G>A,NM_001370.1(DNAH6) c.3081+92G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 2 84832476 rs5832617 CA C 11 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;PC=0.002;Gene=DNAH6/NM_001370.1/1;CC=c.3082-130delA;VC=Intron;DM=DNAH6/DHC_N2;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:5:0:5:3:145:10.66:10.66:0.00:0.78:0.78:0.00:60:34.7:2:0:82:55:17:NM_001370.1(DNAH6) c.3082-147delA,NM_001370.1(DNAH6) c.3082-147delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 84832717 . G . . NT END=84834099;NT GT ./. 2 84833884 rs10193468 G T 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1737,T/0.8263;Gene=DNAH6/NM_001370.1/1;CC=c.3175-216G>T;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:222:25.54:25.54:0.00:1.00:1.00:0.00:60:44.3:0:0:25:126:14:NM_001370.1(DNAH6) c.3175-216G>T,NM_001370.1(DNAH6) c.3175-216G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 84834063 rs4276039 T C 162 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.02516,C/0.9748;Gene=DNAH6/NM_001370.1/1;CC=c.3175-37T>C;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C:45:42:0:0:45:1410:162.40:126.70:35.70:1.00:1.00:1.00:60:39.4:0:0:65:81:30:NM_001370.1(DNAH6) c.3175-37T>C,NM_001370.1(DNAH6) c.3175-37T>C:0.98,0.98:0.959264,0.959264 2 84834220 . G . . NT END=84838797;NT GT ./. 2 84834237 rs4441485 T C 151 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.1737,C/0.8263;Gene=DNAH6/NM_001370.1/1;CC=c.3294+18T>C;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C,G:43:19:0:0:42,1:1313,21:150.73,0.98:55.09,0.00:95.65,0.98:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,97.0:0,0:0,0:85,55:57,96:27,0:NM_001370.1(DNAH6) c.3294+18T>C,NM_001370.1(DNAH6) c.3294+18T>C:0.86,0.86:0.811432,0.811432 2 84834375 rs4240194 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.1733,T/0.8267;PC=0.009;Gene=DNAH6/NM_001370.1/1;CC=c.3294+156C>T;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:0:0:0:19:588:67.79:0.00:67.79:1.00:0.00:1.00:60:80.8:0:0:119:32:24:NM_001370.1(DNAH6) c.3294+156C>T,NM_001370.1(DNAH6) c.3294+156C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 84834396 rs4240195 T A 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1733,A/0.8267;Gene=DNAH6/NM_001370.1/1;CC=c.3294+177T>A;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:538:61.91:0.00:61.91:1.00:0.00:1.00:60:87.0:0:0:108:42:37:NM_001370.1(DNAH6) c.3294+177T>A,NM_001370.1(DNAH6) c.3294+177T>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 84834404 rs4240196 T C 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1733,C/0.8267;PC=0.020;Gene=DNAH6/NM_001370.1/1;CC=c.3294+185T>C;VC=Intron;DM=DNAH6/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A,C:12:0:0:0:1,11:9,334:0.42,38.17:0.00,0.00:0.42,38.17:0.00,1.00:0.00,0.00:0.00,1.00:60,60:77.0,98.5:0,0:0,0:41,114:109,36:0,30:NM_001370.1(DNAH6) c.3294+185T>C,NM_001370.1(DNAH6) c.3294+185T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 84838979 . G . . NT END=84844009;NT GT ./. 2 84844107 . G . . NT END=84846808;NT GT ./. 2 84847029 . G . . NT END=84848314;NT GT ./. 2 84848480 . G . . NT END=84848561;NT GT ./. 2 84848676 . G . . NT END=84851388;NT GT ./. 2 84851515 . G . . NT END=84851588;NT GT ./. 2 84851745 . G . . NT END=84852025;NT GT ./. 2 84852188 . G . . NT END=84861627;NT GT ./. 2 84861766 . G . . NT END=84864333;NT GT ./. 2 84861836 . T C 85 nt VT=SNV;PN=A;NN=T;SST=Single;DP=58;Gene=DNAH6/NM_001370.1/1;CC=c.4653+71T>C;VC=Intron;DM=DNAH6/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:19:0:0:27,31:897,931:85.22,0.00:25.51,0.00:59.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,9.5:0,0:0,0:110,109:41,42:36,19:NM_001370.1(DNAH6) c.4653+71T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 84864502 . G . . NT END=84867553;NT GT ./. 2 84867703 . G . . NT END=84869070;NT GT ./. 2 84869179 . G . . NT END=84880442;NT GT ./. 2 84880695 rs12992282 G A 139 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.9599,A/0.04014;Gene=DNAH6/NM_001370.1/1;CC=c.5331G>A;ProtCh=p.G1777=;VC=Silent;DM=DNAH6/AAA_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:90:59:0:0:45,1,44:1446,10,1458:139.27,-0.10,0.00:71.17,0.00,0.00:68.10,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,53.0,5.0:0,0,0:0,0,0:74,39,69:77,108,79:34,0,36:NM_001370.1(DNAH6) c.5331G>A (p.(=)),-:0.06,-:0.115199,- 2 84880999 . G . . NT END=84881783;NT GT ./. 2 84881907 . G . . NT END=84885415;NT GT ./. 2 84885599 . G . . NT END=84886149;NT GT ./. 2 84886294 . G . . NT END=84896412;NT GT ./. 2 84896635 . G . . NT END=84897451;NT GT ./. 2 84897361 rs12470102 T A 122 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2268,A/0.7732;PC=0.002;Gene=DNAH6/NM_001370.1/1;CC=c.6307-91T>A;VC=Intron;DM=DNAH6/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:32:0:0:33:1061:121.83:102.85:18.98:1.00:1.00:1.00:60:39.2:0:0:63:88:37:NM_001370.1(DNAH6) c.6307-91T>A,NM_001370.1(DNAH6) c.6307-91T>A:0.81,0.81:NOT_FOUND,NOT_FOUND 2 84897517 rs1881095 A G 257 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.01777,G/0.9822;PC=0.904;Gene=DNAH6/NM_001370.1/1;CC=c.6372A>G;ProtCh=p.L2124=;VC=Silent;DM=DNAH6/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:G,T:68:48:0:0:67,1:2258,13:257.25,0.26:140.97,0.00:116.28,0.26:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,173.0:0,0:0,0:78,113:69,38:36,0:NM_001370.1(DNAH6) c.6372A>G (p.(=)),NM_001370.1(DNAH6) c.6372A>G (p.(=)):0.98,0.98:0.962516,0.962516 2 84897600 . G . . NT END=84899450;NT GT ./. 2 84899360 rs4832106 G A 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.2326,A/0.7674;Gene=DNAH6/NM_001370.1/1;CC=c.6455-91G>A;VC=Intron;DM=DNAH6/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:31:0:0:32:987:113.88:94.64:19.23:1.00:1.00:1.00:60:39.4:0:0:30:121:16:NM_001370.1(DNAH6) c.6455-91G>A,NM_001370.1(DNAH6) c.6455-91G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 2 84899609 . G . . NT END=84904128;NT GT ./. 2 84899761 rs4831983 C G 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.2278,G/0.7722;Gene=DNAH6/NM_001370.1/1;CC=c.6612+153C>G;VC=Intron;DM=DNAH6/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:0:0:0:18:606:69.18:0.00:69.18:1.00:0.00:1.00:60:42.4:0:0:89:61:35:NM_001370.1(DNAH6) c.6612+153C>G,NM_001370.1(DNAH6) c.6612+153C>G:0.8,0.8:NOT_FOUND,NOT_FOUND 2 84904261 . G . . NT END=84908480;NT GT ./. 2 84908653 . G . . NT END=84912449;NT GT ./. 2 84908811 rs4832107 C T 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3249,T/0.6751;Gene=DNAH6/NM_001370.1/1;CC=c.6916+159C>T;VC=Intron;DM=DNAH6/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:335:39.11:0.00:39.11:1.00:0.00:1.00:60:81.7:0:0:98:52:22:NM_001370.1(DNAH6) c.6916+159C>T,NM_001370.1(DNAH6) c.6916+159C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 2 84908866 rs369369242 GA G 11 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3;PC=0.013;Gene=DNAH6/NM_001370.1/1;CC=c.6916+229delA;VC=Intron;DM=DNAH6/AAA_7;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,GA,G:7:0:0:4:1,2,4:8,51,110:0.36,0.00,11.20:0.00,0.00,0.00:0.36,0.00,11.20:0.00,0.00,0.90:0.00,0.00,0.00:0.00,0.00,0.90:60,60,60:132.0,94.0,92.0:0,0,0:0,0,0:124,99,114:27,35,36:0,23,11:-,NM_001370.1(DNAH6) c.6916+215delA:-,NOT_FOUND:-,NOT_FOUND 2 84912597 . G . . NT END=84913607;NT GT ./. 2 84913682 . G . . NT END=84915562;NT GT ./. 2 84915718 . G . . NT END=84921372;NT GT ./. 2 84921605 . G . . NT END=84924698;NT GT ./. 2 84924852 . G . . NT END=84926717;NT GT ./. 2 84926859 . G . . NT END=84928220;NT GT ./. 2 84928464 . G . . NT END=84930518;NT GT ./. 2 84930687 . G . . NT END=84931190;NT GT ./. 2 84930815 rs553148540 G GT 20 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=DNAH6/NM_001370.1/1;CC=c.8229+142dupT;VC=Intron;DM=DNAH6/MT;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:21:0:11:1:12,1,7,1:394,12,349,34:0.00,0.23,20.26,2.27:0.00,0.00,0.00,0.00:0.00,0.23,20.26,2.27:0.00,0.00,0.96,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.96,0.00:60,60,60,60:11.2,117.0,14.0,0.0:0,1,4,0:0,0,0,0:117,20,94,89:33,130,56,61:27,0,14,0:-,NM_001370.1(DNAH6) c.8229+129_8229+130insT:-,NOT_FOUND:-,NOT_FOUND 2 84931427 . G . . NT END=84932609;NT GT ./. 2 84932872 . G . . NT END=84934019;NT GT ./. 2 84934144 . G . . NT END=84934643;NT GT ./. 2 84934841 . G . . NT END=84936466;NT GT ./. 2 84936671 . G . . NT END=84937410;NT GT ./. 2 84937537 . G . . NT END=84940218;NT GT ./. 2 84940384 . G . . NT END=84942683;NT GT ./. 2 84942752 . G . . NT END=84945327;NT GT ./. 2 84945509 . G . . NT END=84949748;NT GT ./. 2 84949929 . G . . NT END=84954792;NT GT ./. 2 84955027 . G . . NT END=84960567;NT GT ./. 2 84960704 . G . . NT END=84972203;NT GT ./. 2 84972374 . G . . NT END=84989878;NT GT ./. 2 84972573 rs1192386 G A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2706,A/0.7294;PC=0.008;Gene=DNAH6/NM_001370.1/1;CC=c.10512+200G>A;VC=Intron;DM=DNAH6/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:6:0:0:0:3,3:106,76:10.23,0.00:0.00,0.00:10.23,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:35.3,0.0:0,0:0,0:86,127:65,23:6,11:NM_001370.1(DNAH6) c.10512+200G>A,-:0.7,-:NOT_FOUND,- 2 84990070 . G . . NT END=85008616;NT GT ./. 2 85008778 . G . . NT END=85011845;NT GT ./. 2 85011935 . G . . NT END=85012733;NT GT ./. 2 85012881 . G . . NT END=85014287;NT GT ./. 2 85014427 . G . . NT END=85023429;NT GT ./. 2 85023550 . G . . NT END=85024660;NT GT ./. 2 85024783 . G . . NT END=85032788;NT GT ./. 2 85032919 . G . . NT END=85035538;NT GT ./. 2 85035667 . G . . NT END=85039464;NT GT ./. 2 85039651 . G . . NT END=85040181;NT GT ./. 2 85040255 . G . . NT END=85041094;NT GT ./. 2 85041247 . G . . NT END=85042984;NT GT ./. 2 85043208 . G . . NT END=85046428;NT GT ./. 2 85046533 . A . . NT END=85049040;NT GT ./. 2 85049225 . C . . NT END=85051076;NT GT ./. 2 85051329 . C . . NT END=85059178;NT GT ./. 2 85059270 . C . . NT END=85066272;NT GT ./. 2 85065950 rs11126978 G A 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8528,A/0.1472;Gene=TRABD2A/NM_001080824.2/0;CC=c.844+323C>T;VC=Intron;Gene=TRABD2A/NM_001277053.1/1;CC=c.991+323C>T;VC=Intron;Gene=TRABD2A/NM_001307978.1/0;CC=c.991+323C>T;VC=Intron;DM=TRABD2A/TraB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:A,G:6:6:0:0:5,1:95,20:10.63,0.00:10.63,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:25.2,0.0:0,0:0,0:67,94:84,56:21,0:NM_001080824.1(TRABD2A) c.844+323C>T,-:0.14,-:NOT_FOUND,- 2 85066448 . C . . NT END=85068984;NT GT ./. 2 85069132 . C . . NT END=85097348;NT GT ./. 2 85097910 . C . . NT END=85106716;NT GT ./. 2 85106738 . A . . NT END=85108055;NT GT ./. 2 85108204 . G . . NT END=85133141;NT GT ./. 2 85108252 rs397985168 G GC 297 nt VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=32;PC=0.010;Gene=TRABD2A/NM_001080824.2/0;CC=c.-90_-89insG;VC=5UTR;Gene=TRABD2A/NM_001277053.1/1;CC=c.-90_-89insG;VC=5UTR;Gene=TRABD2A/NM_001307978.1/0;CC=c.-90_-89insG;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G,GC:88:41:85:0:3,85:82,2624:0.00,297.26:0.00,92.70:0.00,204.56:0.00,1.00:0.00,1.00:0.00,1.00:60,70:51.0,9.6:0,0:0,0:149,91:2,54:0,25:NM_001080824.1(TRABD2A) c.-89-u1_-89insG,NM_001080824.1(TRABD2A) c.-89-u1_-89insG:0.99,0.99:NOT_FOUND,NOT_FOUND 2 85133242 . G . . NT END=85133512;NT GT ./. 2 85133548 . G . . NT END=85198574;NT GT ./. 2 85142873 rs146495038 T A 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.9714,A/0.02855;PC=0.478 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:30:30:0:0:15,15:470,475:45.12,0.00:43.84,0.00:1.29,0.00:1.00,0.00:1.00,0.00:0.51,0.00:60,60:45.9,4.9:0,0:0,0:21,39:130,112:17,21:chr2 g.85142872T>A (intergenic),-:0.02,-:NOT_FOUND,- 2 85142945 rs35877749 A AG 219 nt VT=INS;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=449;PC=0.949;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:AG:60:57:60:0:60:1903:218.90:162.95:55.95:1.00:1.00:1.00:60:14.8:0:0:58:90:21:chr2 g.85142945_85142946insG (intergenic),chr2 g.85142945_85142946insG (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 85143040 rs34288218 T TG 242 nt VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=1318;PC=0.200;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:T,TG:71:51:69:0:2,69:54,2134:0.00,242.32:0.00,131.95:0.00,110.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.5,11.2:0,0:0,0:147,62:3,85:0,30:chr2 g.85143040_85143041insG (intergenic),chr2 g.85143040_85143041insG (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 85143406 rs9678007 A T 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.2692,T/0.7308;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:47:35:0:0:23,24:710,845:0.00,81.85:0.00,42.35:0.00,39.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.3,40.0:0,0:0,0:54,77:97,64:31,31:-,chr2 g.85143405A>T (intergenic):-,0.78:-,NOT_FOUND 2 85143835 rs35792004 A T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4509,T/0.5491;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,T:15:2:0:0:10,5:328,154:0.00,13.64:0.00,3.12:0.00,10.51:0.00,0.89:0.00,0.63:0.00,0.99:60,60:4.1,57.8:0,0:0,0:105,126:46,25:35,12:-,chr2 g.85143834A>T (intergenic):-,0.58:-,NOT_FOUND 2 85198401 rs540667091 C CCCGCCGCCGCCG 49 idl,nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.9938,CCGCCGCCGCCG/0.00619;PC=0.984;Gene=KCMF1/NM_020122.4/1;CC=c.-149_-148insCGCCGCCGCCGC;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,C,CCCGCCGCCGCCG:23:22:19:0:1,6,16:13,196,564:0.39,0.00,48.54:0.44,0.00,33.96:-0.04,0.00,14.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:13.0,12.7,19.6:0,1,3:0,0,0:146,98,50:5,26,100:0,13,12:-,NM_020122.4(KCMF1) c.-172CGC[12]:-,NOT_FOUND:-,NOT_FOUND 2 85198591 . G . . NT END=85255011;NT GT ./. 2 85255180 . G . . NT END=85262138;NT GT ./. 2 85262279 . G . . NT END=85270686;NT GT ./. 2 85270789 . A . . NT END=85273226;NT GT ./. 2 85273149 rs3769765 C T 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7788,T/0.2212;Gene=KCMF1/NM_020122.4/1;CC=c.427-78C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:29:0:0:17,16:559,481:0.00,45.76:0.00,33.40:0.00,12.36:0.00,1.00:0.00,1.00:0.00,0.97:60,60:10.3,57.1:0,0:0,0:61,46:90,102:23,20:-,NM_020122.4(KCMF1) c.427-78C>T:-,0.22:-,NOT_FOUND 2 85273402 . G . . NT END=85276488;NT GT ./. 2 85276772 . G . . NT END=85280270;NT GT ./. 2 85280533 . T . . NT END=85360807;NT GT ./. 2 85329317 rs2583559 A C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4099,C/0.5901;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,C:9:7:0:0:4,5:129,165:0.00,16.20:0.00,12.93:0.00,3.27:0.00,0.96:0.00,0.99:0.00,0.84:60,60:0.0,37.4:0,0:0,0:80,68:70,83:31,2:-,chr2 g.85329316A>C (intergenic):-,0.57:-,NOT_FOUND 2 85360763 rs181491150 C A 76 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.9659,A/0.03415;Gene=TCF7L1/NM_031283.2/1;CC=c.-45C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:48:47:0:0:27,19,2:766,596,18:75.80,0.00,0.17:62.36,0.00,0.21:13.44,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.9,14.8,72.0:0,0,0:0,0,0:27,27,124:124,120,23:17,16,12:NM_031283.2(TCF7L1) c.-45C>A,-:0.1,-:NOT_FOUND,- 2 85361057 . G . . NT END=85361138;NT GT ./. 2 85361101 rs116356120 T G 348 nt VT=SNV;PN=G;NN=C;SST=Single;DP=190;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TCF7L1/NM_031283.2/1;CC=c.250-38T>G;VC=Intron;DM=TCF7L1/CTNNB1_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:190:123:0:0:1,106,83:8,3538,2491:-0.15,348.03,0.00:-0.08,156.64,0.00:-0.07,191.39,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.0,39.5,13.9:0,0,0:0,0,0:0,57,64:151,84,84:0,33,22:NM_031283.2(TCF7L1) c.250-38T>G,-:0.04,-:NOT_FOUND,- 2 85361203 . G . . NT END=85361445;NT GT ./. 2 85361574 . G . . NT END=85510617;NT GT ./. 2 85371844 rs6759827 G C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9177,C/0.08227;NP=81;PC=0.001;Gene=TCF7L1/NM_031283.2/1;CC=c.441+10271G>C;VC=Intron;DM=TCF7L1/CTNNB1_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:4:1:0:0:3,1:105,35:10.95,0.00:-0.60,0.00:11.56,0.00:0.85,0.00:0.83,0.00:0.99,0.00:60,60:58.0,12.0:0,0:0,0:101,120:49,31:4,0:NM_031283.2(TCF7L1) c.441+10271G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 85510702 . G . . NT END=85529606;NT GT ./. 2 85526983 . AACACACAC A 7 nt VT=DEL;SST=Single;DP=4;NP=10;Gene=TCF7L1/NM_031283.2/1;CC=c.526-2587_526-2580delACACACAC;VC=Intron;DM=TCF7L1/CTNNB1_binding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AACACACAC,A:4:3:0:2:2,2:65,68:0.00,6.55:0.00,3.43:0.00,3.12:0.00,0.51:0.00,0.89:0.00,0.51:60,60:0.0,50.0:0,0:0,0:37,78:77,66:6,3:-,NM_031283.2(TCF7L1) c.526-2623_526-2616delACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 85529740 . G . . NT END=85531017;NT GT ./. 2 85531121 . G . . NT END=85531377;NT GT ./. 2 85531462 . G . . NT END=85532382;NT GT ./. 2 85532527 . G . . NT END=85533328;NT GT ./. 2 85533489 . G . . NT END=85533574;NT GT ./. 2 85533670 rs41288839 C T 133 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.994,T/0.00599;PC=0.560;Gene=TCF7L1/NM_031283.2/1;CC=c.1245C>T;ProtCh=p.A415=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:99:48:0:0:55,44:1700,1415:0.00,132.96:0.00,42.97:0.00,89.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,40.5:0,0:0,0:93,99:54,48:26,23:-,NM_031283.2(TCF7L1) c.1245C>T (p.(=)):-,0.01:-,0.015301 2 85533683 . G . . NT END=85534764;NT GT ./. 2 85534567 rs61326180 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.97,A/0.02995,C/.;Gene=TCF7L1/NM_031283.2/1;CC=c.1258-198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G:12:12:0:0:5,7:167,169:15.55,0.00:15.55,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:99.2,25.1:0,0:0,0:71,79:80,72:49,29:NM_031283.2(TCF7L1) c.1258-198G>A,-:0.04,-:NOT_FOUND,- 2 85534569 rs73943091 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8832,A/0.1168;Gene=TCF7L1/NM_031283.2/1;CC=c.1258-196G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:12:12:0:0:5,7:164,129:15.33,0.00:15.33,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:99.2,25.1:0,0:0,0:73,81:78,70:49,29:NM_031283.2(TCF7L1) c.1258-196G>A,-:0.12,-:NOT_FOUND,- 2 85534574 rs59653199 T C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8502,C/0.1498,G/.;Gene=TCF7L1/NM_031283.2/1;CC=c.1258-191T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:C,T:13:13:0:0:6,7:185,174:17.46,0.00:17.46,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:88.0,25.1:0,0:0,0:50,86:100,65:43,29:NM_031283.2(TCF7L1) c.1258-191T>C,-:0.15,-:NOT_FOUND,- 2 85534841 . G . . NT END=85536151;NT GT ./. 2 85534950 rs4497880 G A 38 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.9,A/0.1;Gene=TCF7L1/NM_031283.2/1;CC=c.1333+110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:3:0:0:14,11:388,351:37.97,0.00:1.46,0.00:36.51,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:29.0,5.6:0,0:0,0:113,106:38,45:27,41:NM_031283.2(TCF7L1) c.1333+110G>A,-:0.11,-:NOT_FOUND,- 2 85536586 . G . . NT END=85549787;NT GT ./. 2 85542686 rs7608881 G C 173 nt VT=SNV;PN=G;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.3105,C/0.6895;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:98:71:0:0:54,43,1:1758,1325,10:172.62,0.00,-0.09:92.96,0.00,-0.12:79.66,0.00,0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:66.8,19.2,59.0:0,0,0:0,0,0:61,77,56:87,69,94:41,38,0:chr2 g.85542685G>C (intergenic),-:0.68,-:NOT_FOUND,- 2 85542718 rs7608892 G A 164 nt VT=SNV;PN=G;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.3095,A/0.6905;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:66:0:0:53,45:1678,1379:163.73,0.00:73.31,0.00:90.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.8,23.5:0,0:0,0:66,71:82,65:27,38:chr2 g.85542717G>A (intergenic),-:0.68,-:NOT_FOUND,- 2 85543064 rs4446071 T C 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.2404,C/0.7596 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:32:0:0:19,26:582,837:53.87,0.00:32.82,0.00:21.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.9,3.0:0,0:0,0:76,44:74,105:36,19:chr2 g.85543063T>C (intergenic),-:0.75,-:NOT_FOUND,- 2 85543160 rs146359282 T TTCTA 49 nt VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.521,TTCTA/0.479;NP=19;PC=0.843;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TTCTA:52:32:19:0:1,32,19:21,995,545:0.64,0.00,48.86:0.79,0.00,24.82:-0.15,0.00,24.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,60:125.0,4.4,44.2:1,0,0:0,0,0:56,111,75:95,39,76:0,24,30:-,chr2 g.85543160_85543161insTCTA (intergenic):-,0.28:-,NOT_FOUND 2 85543222 rs4599108 C T 78 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.3458,T/0.6542 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:25:0:0:14,25:458,771:0.00,77.93:0.00,46.18:0.00,31.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,49.5:0,0:0,0:105,54:45,96:23,42:-,chr2 g.85543221C>T (intergenic):-,0.63:-,NOT_FOUND 2 85543498 rs113170028 A G 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.4465,G/0.5535 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:27:21:0:0:23,4:727,139:0.00,10.90:0.00,-0.90:0.00,11.80:0.00,0.66:0.00,0.92:0.00,0.93:60,40:12.2,75.5:0,0:0,0:66,100:75,51:30,18:-,chr2 g.85543497A>G (intergenic):-,0.44:-,NOT_FOUND 2 85549868 rs4240199 A G 138 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.221,G/0.779;Gene=TGOLN2/NM_001206840.1/0;CC=c.1363T>C;ProtCh=p.*455Qext*26;VC=Readthrough;Gene=TGOLN2/NM_001206841.1/0;CC=c.1322T>C;ProtCh=p.L441P;VC=Missense;Gene=TGOLN2/NM_001206844.1/0;CC=c.1135-4T>C;VC=Intron;Gene=TGOLN2/NM_006464.3/1;CC=c.1309-4T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:47:0:0:38,44:1191,1419:0.00,138.27:0.00,55.64:0.00,82.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,37.7:0,0:0,0:54,84:94,66:21,30:-,NM_006464.3(TGOLN2) c.1309-4T>C:-,0.77:-,0.663431 2 85549923 . C . . NT END=85552037;NT GT ./. 2 85552122 . C . . NT END=85553630;NT GT ./. 2 85552186 rs7572750 C A 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.2815,A/0.7185;PC=0.009;Gene=TGOLN2/NM_001206840.1/0;CC=c.1225-65G>T;VC=Intron;Gene=TGOLN2/NM_001206841.1/0;CC=c.1225-65G>T;VC=Intron;Gene=TGOLN2/NM_001206844.1/0;CC=c.1051-65G>T;VC=Intron;Gene=TGOLN2/NM_006464.3/1;CC=c.1225-65G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:30:9:0:0:9,21:298,696:26.14,0.00:2.73,0.00:23.41,0.00:0.99,0.00:0.94,0.00:1.00,0.00:60,60:36.7,5.2:0,0:0,0:111,113:40,23:24,23:NM_006464.3(TGOLN2) c.1225-65G>T,-:0.71,-:NOT_FOUND,- 2 85553784 rs1044973 C T 239 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=181;DB;DBA=NA;PAF=C/0.3413,T/0.6587;Gene=TGOLN2/NM_001206840.1/0;CC=c.1071G>A;ProtCh=p.G357=;VC=Silent;Gene=TGOLN2/NM_001206841.1/0;CC=c.1071G>A;ProtCh=p.G357=;VC=Silent;Gene=TGOLN2/NM_001206844.1/0;CC=c.897G>A;ProtCh=p.G299=;VC=Silent;Gene=TGOLN2/NM_006464.3/1;CC=c.1071G>A;ProtCh=p.G357=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:181:127:0:0:99,82:3168,2541:0.00,239.03:0.00,124.41:0.00,114.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,39.0:0,0:0,0:87,78:62,72:36,34:-,NM_006464.3(TGOLN2) c.1071G>A (p.(=)):-,0.64:-,0.552496 2 85554080 rs4247303 G A 310 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=G/0.4203,A/0.5797;Gene=TGOLN2/NM_001206840.1/0;CC=c.775C>T;ProtCh=p.R259W;VC=Missense;Gene=TGOLN2/NM_001206841.1/0;CC=c.775C>T;ProtCh=p.R259W;VC=Missense;Gene=TGOLN2/NM_001206844.1/0;CC=c.753+22C>T;VC=Intron;Gene=TGOLN2/NM_006464.3/1;CC=c.775C>T;ProtCh=p.R259W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:198:150:0:0:98,100:3222,2913:309.51,0.00:195.84,0.00:113.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.8,12.6:0,0:0,0:60,66:85,82:34,35:NM_006464.3(TGOLN2) c.775C>T (p.Arg259Trp),-:0.57,-:0.450041,- 2 85554809 . C . . NT END=85555039;NT GT ./. 2 85555086 . C . . NT END=85570364;NT GT ./. 2 85555262 rs10460585 T G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.2135,G/0.7865;Gene=TGOLN2/NM_001206840.1/0;CC=c.-177A>C;VC=5UTR;Gene=TGOLN2/NM_001206841.1/0;CC=c.-177A>C;VC=5UTR;Gene=TGOLN2/NM_001206844.1/0;CC=c.-177A>C;VC=5UTR;Gene=TGOLN2/NM_006464.3/1;CC=c.-177A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:0:0:0:7,16:220,521:19.21,0.00:0.00,0.00:19.21,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:64.6,2.3:0,0:0,0:102,81:49,68:31,20:NM_006464.3(TGOLN2) c.-177A>C,-:0.78,-:NOT_FOUND,- 2 85555277 rs10460586 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.3387,A/0.6613;Gene=TGOLN2/NM_001206840.1/0;CC=c.-192C>T;VC=5UTR;Gene=TGOLN2/NM_001206841.1/0;CC=c.-192C>T;VC=5UTR;Gene=TGOLN2/NM_001206844.1/0;CC=c.-192C>T;VC=5UTR;Gene=TGOLN2/NM_006464.3/1;CC=c.-192C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:18:0:0:0:5,13:176,428:15.37,0.00:0.00,0.00:15.37,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:78.0,0.8:0,0:0,0:94,88:55,62:23,17:NM_006464.3(TGOLN2) c.-192C>T,-:0.64,-:NOT_FOUND,- 2 85570146 rs4832167 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=RETSAT/NM_017750.3/1;CC=c.*219C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:17:17:0:0:4,13:129,370:10.79,0.00:10.79,0.00:0.00,0.00:0.74,0.00:0.74,0.00:0.00,0.00:39,60:165.8,44.1:0,0:0,0:21,52:129,98:3,25:NM_017750.3(RETSAT) c.*219C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 85570152 rs4832000 A G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6869,G/0.3131;Gene=RETSAT/NM_017750.3/1;CC=c.*213T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:17:17:0:0:13,4:400,140:0.00,11.88:0.00,11.88:0.00,0.00:0.00,0.74:0.00,0.74:0.00,0.00:60,39:44.1,165.8:0,0:0,0:58,27:92,123:25,3:-,NM_017750.3(RETSAT) c.*213T>C:-,0.21:-,NOT_FOUND 2 85570157 rs78997630 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6873,T/0.3127;Gene=RETSAT/NM_017750.3/1;CC=c.*208G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,C,T:17:17:0:0:1,12,4:19,386,128:0.86,0.00,10.80:0.86,0.00,10.80:0.00,0.00,0.00:0.00,0.00,0.74:0.00,0.00,0.74:0.00,0.00,0.00:60,60,39:215.0,29.8,165.8:0,0,0:0,0,0:63,55,32:87,95,118:0,29,3:-,NM_017750.3(RETSAT) c.*208G>A:-,0.21:-,NOT_FOUND 2 85570159 rs13397464 T G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9369,G/0.0631;NP=2;Gene=RETSAT/NM_017750.3/1;CC=c.*206A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:G,T:17:17:0:0:4,13:132,332:11.10,0.00:11.10,0.00:0.00,0.00:0.74,0.00:0.74,0.00:0.00,0.00:39,60:165.8,44.1:0,0:0,0:34,65:116,86:3,25:NM_017750.3(RETSAT) c.*206A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 85570186 rs4832001 G A 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=274;PC=0.001;Gene=RETSAT/NM_017750.3/1;CC=c.*179C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G,T:26:26:0:0:6,19,1:199,589,16:16.79,0.00,0.41:16.79,0.00,0.41:0.00,0.00,0.00:0.91,0.00,0.00:0.91,0.00,0.00:0.00,0.00,0.00:60,60,60:121.3,26.6,16.0:0,0,0:0,0,0:56,42,92:94,108,59:8,30,0:NM_017750.3(RETSAT) c.*179C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 85570505 . C . . NT END=85570761;NT GT ./. 2 85570922 . C . . NT END=85571121;NT GT ./. 2 85570942 rs9309620 G C 92 nt VT=SNV;PN=G;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=RETSAT/NM_017750.3/1;CC=c.1534-21C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:81:45:0:0:1,31,49:9,1003,1582:-0.16,91.90,0.00:-0.11,41.06,0.00:-0.06,50.84,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:108.0,37.1,19.4:0,0,0:0,0,0:115,88,90:16,50,59:0,31,28:NM_017750.3(RETSAT) c.1534-21C>G,-:0.58,-:NOT_FOUND,- 2 85571289 . C . . NT END=85571361;NT GT ./. 2 85571472 . C . . NT END=85571716;NT GT ./. 2 85571710 rs4832171 A G 143 nt VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.08746,G/0.9125;Gene=RETSAT/NM_017750.3/1;CC=c.1256+7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:67:0:0:32,45:1065,1439:0.00,142.54:0.00,99.55:0.00,42.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,38.1:0,0:0,0:73,48:76,96:33,27:-,NM_017750.3(RETSAT) c.1256+7T>C:-,0.88:-,0.806013 2 85571856 . C . . NT END=85573097;NT GT ./. 2 85573033 rs908302 G A 109 nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.2981,A/0.7019;Gene=RETSAT/NM_017750.3/1;CC=c.1117+65C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:61:0:0:35,29:1113,969:108.81,0.00:80.67,0.00:28.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,7.4:0,0:0,0:54,56:97,94:28,32:NM_017750.3(RETSAT) c.1117+65C>T,-:0.7,-:NOT_FOUND,- 2 85573218 . C . . NT END=85576506;NT GT ./. 2 85573403 rs908306 C A 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.35,A/0.65;Gene=RETSAT/NM_017750.3/1;CC=c.998-186G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,C:21:0:0:0:16,5:516,177:54.22,0.00:0.00,0.00:54.22,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.6,3.6:0,0:0,0:103,103:47,48:42,20:NM_017750.3(RETSAT) c.998-186G>T,-:0.65,-:NOT_FOUND,- 2 85576451 rs10590946 GTC G 68 nt VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=GTC/0.7823,G/0.2177;NP=1029;PC=0.008;Gene=RETSAT/NM_017750.3/1;CC=c.997+54_997+55delGA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTC,G:56:53:0:24:32,24:955,733:0.00,68.17:0.00,50.04:0.00,18.13:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.9,6.8:0,0:0,0:28,37:112,111:19,17:-,NM_017750.3(RETSAT) c.997+54_997+55delGA:-,0.23:-,NOT_FOUND 2 85576705 . C . . NT END=85577162;NT GT ./. 2 85577365 . C . . NT END=85577902;NT GT ./. 2 85578145 . C . . NT END=85578802;NT GT ./. 2 85578986 . C . . NT END=85581458;NT GT ./. 2 85581631 . C . . NT END=85584321;NT GT ./. 2 85584376 . G . . NT END=85589308;NT GT ./. 2 85589223 rs368398168 TA T 15 idl,rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=57;PC=0.015;Gene=ELMOD3/NM_001135021.1/1;CC=c.55-73delA;VC=Intron;Gene=ELMOD3/NM_001135022.1/0;CC=c.55-73delA;VC=Intron;Gene=ELMOD3/NM_001135023.1/0;CC=c.55-73delA;VC=Intron;Gene=ELMOD3/NM_032213.4/0;CC=c.55-73delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:TA,I,T:33:31:3:7:24,3,6:690,91,218:0.00,6.41,15.03:0.00,6.51,11.40:0.00,-0.10,3.63:0.00,0.00,0.89:0.00,0.00,0.99:0.00,0.00,0.61:60,60,60:17.5,6.7,9.2:0,0,1:0,0,0:72,55,64:77,93,87:32,23,24:-,NM_032213.4(ELMOD3) c.55-85delA:-,NOT_FOUND:-,NOT_FOUND 2 85589384 . G . . NT END=85590219;NT GT ./. 2 85590290 . G . . NT END=85595808;NT GT ./. 2 85595878 . G . . NT END=85596861;NT GT ./. 2 85596553 rs6716601 G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.727,A/0.273;PC=0.001;Gene=ELMOD3/NM_001135021.1/1;CC=c.269-309G>A;VC=Intron;Gene=ELMOD3/NM_001135022.1/0;CC=c.269-309G>A;VC=Intron;Gene=ELMOD3/NM_001135023.1/0;CC=c.269-309G>A;VC=Intron;Gene=ELMOD3/NM_032213.4/0;CC=c.269-309G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:4:0:0:3,1:80,32:8.42,0.00:8.42,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:59.3,0.0:0,0:0,0:47,6:104,145:38,0:NM_032213.4(ELMOD3) c.269-309G>A,-:0.28,-:NOT_FOUND,- 2 85596954 . G . . NT END=85598208;NT GT ./. 2 85598333 . G . . NT END=85598562;NT GT ./. 2 85598686 . G . . NT END=85604466;NT GT ./. 2 85604598 . G . . NT END=85614220;NT GT ./. 2 85614349 . G . . NT END=85616873;NT GT ./. 2 85616951 . G . . NT END=85617260;NT GT ./. 2 85618086 . C . . NT END=85622015;NT GT ./. 2 85622059 rs6886 T C 158 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4149,C/0.5851;PC=0.947;Gene=CAPG/NM_001256140.1/1;CC=c.959A>G;ProtCh=p.H320R;VC=Missense;Gene=CAPG/NM_001747.3/0;CC=c.1004A>G;ProtCh=p.H335R;VC=Missense;Gene=CAPG/NM_001256139.1/0;CC=c.1004A>G;ProtCh=p.H335R;VC=Missense;DM=CAPG/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:34:0:0:42:1383:158.32:81.90:76.42:1.00:1.00:1.00:60:39.4:0:0:76:63:41:NM_001747.3(CAPG) c.1004A>G (p.His335Arg),NM_001747.3(CAPG) c.1004A>G (p.His335Arg):0.61,0.61:0.674381,0.674381 2 85622082 . C . . NT END=85622660;NT GT ./. 2 85622581 . C T 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;PC=0.003;Gene=CAPG/NM_001256140.1/1;CC=c.936+80G>A;VC=Intron;Gene=CAPG/NM_001747.3/0;CC=c.981+80G>A;VC=Intron;Gene=CAPG/NM_001256139.1/0;CC=c.981+80G>A;VC=Intron;DM=CAPG/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:12,10:401,319:0.00,30.09:0.00,28.40:0.00,1.69:0.00,1.00:0.00,1.00:0.00,0.75:60,60:11.7,37.5:0,0:0,0:56,64:94,87:18,38:-,NM_001747.3(CAPG) c.981+80G>A:-,NOT_FOUND:-,NOT_FOUND 2 85622750 . C . . NT END=85625142;NT GT ./. 2 85625276 . C . . NT END=85625812;NT GT ./. 2 85625439 rs11687035 T G 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.9177,G/0.08227;Gene=CAPG/NM_001256140.1/1;CC=c.715-164A>C;VC=Intron;Gene=CAPG/NM_001747.3/0;CC=c.760-164A>C;VC=Intron;Gene=CAPG/NM_001256139.1/0;CC=c.760-164A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:33:0:0:0:14,19:484,607:45.31,0.00:0.00,0.00:45.31,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.6,15.9:0,0:0,0:103,99:47,52:26,26:NM_001747.3(CAPG) c.760-164A>C,-:0.11,-:NOT_FOUND,- 2 85625513 rs2271625 T A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7562,A/0.2438;Gene=CAPG/NM_001256140.1/1;CC=c.715-238A>T;VC=Intron;Gene=CAPG/NM_001747.3/0;CC=c.760-238A>T;VC=Intron;Gene=CAPG/NM_001256139.1/0;CC=c.760-238A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,T:11:0:0:0:6,5:195,144:19.07,0.00:0.00,0.00:19.07,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:40.5,26.8:0,0:0,0:98,97:53,54:18,42:NM_001747.3(CAPG) c.760-238A>T,-:0.26,-:NOT_FOUND,- 2 85625906 . C . . NT END=85626258;NT GT ./. 2 85626409 . C . . NT END=85628287;NT GT ./. 2 85626581 rs35391999 A T 83 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4159,T/0.5841;Gene=CAPG/NM_001256140.1/1;CC=c.517-173T>A;VC=Intron;Gene=CAPG/NM_001747.3/0;CC=c.517-173T>A;VC=Intron;Gene=CAPG/NM_001256139.1/0;CC=c.517-173T>A;VC=Intron;DM=CAPG/Gelsolin;DM=CAPG/Gelsolin;DM=CAPG/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:0:0:0:22:726:83.09:0.00:83.09:1.00:0.00:1.00:60:39.6:0:0:108:42:22:NM_001747.3(CAPG) c.517-173T>A,NM_001747.3(CAPG) c.517-173T>A:0.61,0.61:NOT_FOUND,NOT_FOUND 2 85626706 rs7581471 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4984,C/0.5016;Gene=CAPG/NM_001256140.1/1;CC=c.517-298A>G;VC=Intron;Gene=CAPG/NM_001747.3/0;CC=c.517-298A>G;VC=Intron;Gene=CAPG/NM_001256139.1/0;CC=c.517-298A>G;VC=Intron;DM=CAPG/Gelsolin;DM=CAPG/Gelsolin;DM=CAPG/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:C,T:4:0:0:0:3,1:72,35:7.59,0.00:0.00,0.00:7.59,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:40.0,13.0:0,0:0,0:93,32:57,119:54,0:NM_001747.3(CAPG) c.517-298A>G,-:0.51,-:NOT_FOUND,- 2 85628453 . C . . NT END=85628651;NT GT ./. 2 85628807 . C . . NT END=85628907;NT GT ./. 2 85629081 . C . . NT END=85629245;NT GT ./. 2 85629269 . G . . NT END=85660190;NT GT ./. 2 85660126 rs10865478 A G 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.4531,G/0.5469 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:G:38:36:0:0:38:1161:133.87:94.25:39.62:1.00:1.00:1.00:60:39.1:0:0:28:116:20:NM_198482.1(SH2D6) c.-161-u1792A>G,NM_198482.1(SH2D6) c.-161-u1792A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 2 85660245 . G . . NT END=85660693;NT GT ./. 2 85660430 rs34306645 G A 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8858,A/0.1142 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A,C:12:4:0:0:11,1:330,11:37.82,0.58:15.06,0.00:22.77,0.58:1.00,0.00:1.00,0.00:1.00,0.00:60,60:30.9,143.0:0,0:0,0:59,44:89,93:26,0:NM_198482.1(SH2D6) c.-161-u1488G>A,NM_198482.1(SH2D6) c.-161-u1488G>A:0.14,0.14:NOT_FOUND,NOT_FOUND 2 85660755 . G . . NT END=85661155;NT GT ./. 2 85661235 . G . . NT END=85661462;NT GT ./. 2 85661494 . G . . NT END=85661595;NT GT ./. 2 85661621 . G . . NT END=85661917;NT GT ./. 2 85661740 rs536360058 TA T 13 idl,rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=TA/0.863,T/0.137;NP=3;PC=0.007;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:TA,I,T:33:16:6:7:25,3,5:664,165,225:0.00,5.26,12.66:0.00,4.57,5.40:0.00,0.69,7.26:0.00,0.00,0.77:0.00,0.00,0.82:0.00,0.00,0.89:60,60,60:25.4,77.0,28.0:0,4,2:0,0,0:101,90,85:50,61,65:44,24,27:-,NM_198482.1(SH2D6) c.-161-u177delA:-,NOT_FOUND:-,NOT_FOUND 2 85662017 rs2271628 G A 420 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.5353,A/0.4647;Gene=SH2D6/NM_198482.1/1;CC=c.-62G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:120:80:0:0:119,1:3659,19:420.04,0.00:193.47,0.00:226.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.9,118.0:0,0:0,0:70,54:80,94:40,0:NM_198482.1(SH2D6) c.-62G>A,NM_198482.1(SH2D6) c.-62G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 2 85662247 . G . . NT END=85662535;NT GT ./. 2 85662620 . G . . NT END=85662788;NT GT ./. 2 85662650 rs6547618 A G 252 nt VT=SNV;PN=C;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.3966,G/0.6034;Gene=SH2D6/NM_198482.1/1;CC=c.252+31A>G;VC=Intron;DM=SH2D6/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:74:57:0:0:74:2176:252.25:156.76:95.49:1.00:1.00:1.00:60:43.4:0:0:64:85:33:NM_198482.1(SH2D6) c.252+31A>G,NM_198482.1(SH2D6) c.252+31A>G:0.63,0.63:0.671716,0.671716 2 85662948 . G . . NT END=85663588;NT GT ./. 2 85663706 . G . . NT END=85766410;NT GT ./. 2 85701191 rs5832646 T TAC 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;NP=4;NP=64;PC=0.027;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:T,TAC:7:6:3:0:4,3:132,98:0.00,9.16:0.00,7.94:0.00,1.22:0.00,0.69:0.00,0.95:0.00,0.89:60,60:20.2,12.3:0,0:0,0:68,47:65,104:21,15:-,chr2 g.85701191_85701192insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 85766502 . G . . NT END=85768205;NT GT ./. 2 85766545 rs2289972 C T 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7125,T/0.2875;Gene=MAT2A/NM_005911.5/1;CC=c.91+44C>T;VC=Intron;DM=MAT2A/S-AdoMet_synt_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:12:0:0:14,19:491,568:0.00,56.03:0.00,5.81:0.00,50.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,46.2:0,0:0,0:99,111:51,40:29,22:-,NM_005911.5(MAT2A) c.91+44C>T:-,0.33:-,0.30074 2 85768284 . G . . NT END=85768377;NT GT ./. 2 85768501 . G . . NT END=85768755;NT GT ./. 2 85768869 . G . . NT END=85768951;NT GT ./. 2 85769096 . G . . NT END=85769277;NT GT ./. 2 85769246 rs1078005 G A 239 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.003395,A/0.9966;Gene=MAT2A/NM_005911.5/1;CC=c.550-32G>A;VC=Intron;DM=MAT2A/S-AdoMet_synt_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:49:0:0:66:2079:239.34:143.41:95.93:1.00:1.00:1.00:60:37.6:0:0:47:102:35:NM_005911.5(MAT2A) c.550-32G>A,NM_005911.5(MAT2A) c.550-32G>A:1,1:0.988698,0.988698 2 85769497 . G . . NT END=85769687;NT GT ./. 2 85769711 rs1078004 C G 137 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.5072,G/0.4928;PC=0.747;Gene=MAT2A/NM_005911.5/1;CC=c.792C>G;ProtCh=p.R264=;VC=Silent;DM=MAT2A/S-AdoMet_synt_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:91:67:0:0:1,46,44:34,1567,1431:1.70,0.00,137.00:1.79,0.00,78.18:-0.09,0.00,58.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:117.0,10.3,37.9:0,0,0:0,0,0:26,68,63:120,80,80:0,30,33:-,NM_005911.5(MAT2A) c.792C>G (p.(=)):-,0.5:-,0.533062 2 85769871 . G . . NT END=85770023;NT GT ./. 2 85769975 rs2043675 A G 97 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.7127,C/.,G/0.2873;Gene=MAT2A/NM_005911.5/1;CC=c.952-49A>G;VC=Intron;DM=MAT2A/S-AdoMet_synt_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:73:43:0:0:40,31,2:1248,1036,18:0.00,97.25,-0.10:0.00,54.99,0.16:0.00,42.26,-0.26:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.2,42.4,157.0:0,0,0:0,0,0:79,62,110:71,80,40:37,39,9:-,NM_005911.5(MAT2A) c.952-49A>G:-,0.33:-,0.304552 2 85770158 . G . . NT END=85770792;NT GT ./. 2 85770896 . A . . NT END=85777056;NT GT ./. 2 85777250 . C . . NT END=85777677;NT GT ./. 2 85777270 rs2028898 G A 80 nt VT=SNV;PN=C;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.7139,A/0.2861,T/.;Gene=GGCX/NM_000821.6/1;CC=c.2085-21C>T;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.1914-21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:27:0:0:27,31:843,993:79.76,0.00:30.33,0.00:49.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,11.6:0,0:0,0:111,77:29,71:27,26:NM_000821.5(GGCX) c.2085-21C>T,-:0.33,-:0.30286,- 2 85777633 rs11676382 C G 58 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.9744,G/0.02556;Gene=GGCX/NM_000821.6/1;CC=c.2084+45G>C;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.1913+45G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:42:40:0:0:1,21,20:10,689,607:-0.01,0.00,57.90:0.03,0.00,51.93:-0.04,0.00,5.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:94.0,4.7,46.5:0,0,0:0,0,0:68,56,46:83,95,102:0,39,22:-,NM_000821.5(GGCX) c.2084+45G>C:-,0.04:-,0.066738 2 85777874 . C . . NT END=85778047;NT GT ./. 2 85778196 . C . . NT END=85778602;NT GT ./. 2 85778734 . C . . NT END=85778934;NT GT ./. 2 85779105 . C . . NT END=85779538;NT GT ./. 2 85779691 . C . . NT END=85780061;NT GT ./. 2 85780131 rs2592551 G A 163 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.7141,A/0.2859;PC=1.000;Gene=GGCX/NM_000821.6/1;CC=c.1218C>T;ProtCh=p.R406=;VC=Silent;Gene=GGCX/NM_001142269.3/0;CC=c.1047C>T;ProtCh=p.R349=;VC=Silent;DM=GGCX/VKG_Carbox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:89:0:0:54,61:1722,2075:163.44,0.00:92.75,0.00:70.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,4.6:0,0:0,0:82,70:68,78:32,36:NM_000821.5(GGCX) c.1218C>T (p.(=)),-:0.33,-:0.302553,- 2 85780194 . C . . NT END=85780354;NT GT ./. 2 85780536 rs699664 C T 132 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.6222,T/0.3778;Gene=GGCX/NM_000821.6/1;CC=c.974G>A;ProtCh=p.R325Q;VC=Missense;Gene=GGCX/NM_001142269.3/0;CC=c.803G>A;ProtCh=p.R268Q;VC=Missense;DM=GGCX/VKG_Carbox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:100:62:0:0:1,55,44:7,1786,1410:-0.19,0.00,132.42:-0.06,0.00,49.60:-0.13,0.00,82.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.0,6.3,38.4:0,0,0:0,0,0:81,85,85:69,53,66:0,33,29:-,NM_000821.5(GGCX) c.974G>A (p.Arg325Gln):-,0.41:-,0.419191 2 85780621 . C . . NT END=85781265;NT GT ./. 2 85781318 rs1254896 T G 307 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.003395,C/.,T/0.9966;NP=3478;PC=0.985;Gene=GGCX/NM_000821.6/1;CC=c.837A>C;ProtCh=p.G279=;VC=Silent;Gene=GGCX/NM_001142269.3/0;CC=c.666A>C;ProtCh=p.G222=;VC=Silent;DM=GGCX/VKG_Carbox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:68:0:0:82:2680:306.97:196.59:110.38:1.00:1.00:1.00:60:37.0:0:0:63:87:31:NM_000821.5(GGCX) c.=,NM_000821.5(GGCX) c.=:1,1:0.988698,0.988698 2 85781430 . C . . NT END=85782606;NT GT ./. 2 85782714 . C . . NT END=85783304;NT GT ./. 2 85783128 rs6738645 T G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5074,G/0.4926;PC=0.035;Gene=GGCX/NM_000821.6/1;CC=c.618+177A>C;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.447+177A>C;VC=Intron;DM=GGCX/VKG_Carbox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:G,T:10:10:0:0:4,6:119,194:10.88,0.00:10.88,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:29.8,10.2:0,0:0,0:48,28:102,122:22,24:NM_000821.5(GGCX) c.618+177A>C,-:0.5,-:NOT_FOUND,- 2 85783150 rs78831337 GA G 10 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=GA/0.9056,G/0.09445;NP=253;PC=0.005;Gene=GGCX/NM_000821.6/1;CC=c.618+154delT;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.447+154delT;VC=Intron;DM=GGCX/VKG_Carbox;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:GA,G:11:11:0:4:7,4:226,113:0.00,10.08:0.00,10.08:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:14.1,29.8:0,0:0,0:43,70:107,80:17,22:-,NM_000821.5(GGCX) c.618+154delT:-,0.13:-,NOT_FOUND 2 85783384 . C . . NT END=85785562;NT GT ./. 2 85785729 . C . . NT END=85786039;NT GT ./. 2 85786199 . C . . NT END=85787937;NT GT ./. 2 85788109 . C . . NT END=85788508;NT GT ./. 2 85788140 rs1254898 C T 56 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.8355,T/0.1645;Gene=GGCX/NM_000821.6/1;CC=c.44-32G>A;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.43+369G>A;VC=Intron;Gene=GGCX/NM_001311312.1/0;CC=c.44-32G>A;VC=Intron;DM=GGCX/VKG_Carbox;DM=GGCX/VKG_Carbox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:25:0:0:37,21:1184,628:0.00,56.31:0.00,18.07:0.00,38.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.9,53.7:0,0:0,0:83,76:66,63:23,27:-,NM_000821.5(GGCX) c.44-32G>A:-,0.19:-,0.230201 2 85788175 rs7568458 T A 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.5132,A/0.4868;Gene=GGCX/NM_000821.6/1;CC=c.44-67A>T;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.43+334A>T;VC=Intron;Gene=GGCX/NM_001311312.1/0;CC=c.44-67A>T;VC=Intron;DM=GGCX/VKG_Carbox;DM=GGCX/VKG_Carbox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:47:19:0:0:28,19:893,588:88.87,0.00:29.28,0.00:59.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,48.6:0,0:0,0:97,91:49,59:23,28:NM_000821.5(GGCX) c.44-67A>T,-:0.49,-:NOT_FOUND,- 2 85788270 rs10172544 C A 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.595,A/0.405;Gene=GGCX/NM_000821.6/1;CC=c.44-162G>T;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.43+239G>T;VC=Intron;Gene=GGCX/NM_001311312.1/0;CC=c.44-162G>T;VC=Intron;DM=GGCX/VKG_Carbox;DM=GGCX/VKG_Carbox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:9:0:0:11,12:317,367:30.02,0.00:5.35,0.00:24.67,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:54.3,10.2:0,0:0,0:88,93:63,57:37,30:NM_000821.5(GGCX) c.44-162G>T,-:0.41,-:NOT_FOUND,- 2 85788401 rs11350741 GA G 16 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=GA/0.601,G/0.399;NP=154;Gene=GGCX/NM_000821.6/1;CC=c.43+107delT;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.43+107delT;VC=Intron;Gene=GGCX/NM_001311312.1/0;CC=c.43+107delT;VC=Intron;DM=GGCX/VKG_Carbox;DM=GGCX/VKG_Carbox;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:GA,G:20:16:0:6:14,6:442,181:0.00,15.66:0.00,10.46:0.00,5.20:0.00,0.94:0.00,0.99:0.00,0.76:60,60:69.3,56.5:9,0:0,0:68,15:82,135:40,7:-,NM_000821.5(GGCX) c.43+107delT:-,NOT_FOUND:-,NOT_FOUND 2 85788402 rs55829881 AC A 24 idl,rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=AC/0.6278,A/0.3722;NP=10;PC=0.001;Gene=GGCX/NM_000821.6/1;CC=c.43+106delG;VC=Intron;Gene=GGCX/NM_001142269.3/0;CC=c.43+106delG;VC=Intron;Gene=GGCX/NM_001311312.1/0;CC=c.43+106delG;VC=Intron;DM=GGCX/VKG_Carbox;DM=GGCX/VKG_Carbox;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:AC,C,A:13:12:0:16:3,2,8:90,57,269:0.00,4.77,24.37:0.00,3.03,21.23:0.00,1.74,3.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.85:60,60,60:51.7,91.5,79.0:0,0,1:0,0,0:79,118,42:72,4,109:19,23,38:-,NM_000821.5(GGCX) c.43+106delG:-,NOT_FOUND:-,NOT_FOUND 2 85788552 . T . . NT END=85804769;NT GT ./. 2 85788738 rs115669754 C A 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9056,A/0.09445 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:15:0:0:0:6,9:199,264:18.38,0.00:0.00,0.00:18.38,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:35.0,15.0:0,0:0,0:99,84:51,66:19,28:NM_000821.5(GGCX) c.-106-u81G>T,-:0.13,-:NOT_FOUND,- 2 85804540 rs1254899 A G 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.0009984,G/0.999;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C,G:14:13:0:0:1,13:12,417:0.61,47.44:0.61,43.79:0.00,3.64:0.00,1.00:0.00,1.00:0.00,0.95:60,60:131.0,42.2:0,0:0,0:96,62:33,87:0,18:NM_003761.4(VAMP8) c.-156-u74A>G,NM_003761.4(VAMP8) c.-156-u74A>G:1,1:NOT_FOUND,NOT_FOUND 2 85804773 . G . . NT END=85806131;NT GT ./. 2 85806068 rs3731827 T C 82 nt VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.5499,C/0.4501;PC=0.015;Gene=VAMP8/NM_003761.4/1;CC=c.4-64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:65:0:0:27,47:900,1572:81.79,0.00:56.32,0.00:25.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,8.3:0,0:0,0:55,41:96,104:31,26:NM_003761.4(VAMP8) c.4-64T>C,-:0.46,-:NOT_FOUND,- 2 85806266 rs3731828 C T 201 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.7167,T/0.2833;PC=1.000;Gene=VAMP8/NM_003761.4/1;CC=c.138C>T;ProtCh=p.N46=;VC=Silent;DM=VAMP8/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:137:87:0:0:69,68:2340,2099:0.00,200.96:0.00,97.46:0.00,103.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,38.2:0,0:0,0:69,78:72,68:22,41:-,NM_003761.4(VAMP8) c.138C>T (p.(=)):-,0.32:-,0.300477 2 85806291 . G . . NT END=85808698;NT GT ./. 2 85808573 rs1972297 T C 68 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.5829,C/0.4171;Gene=VAMP8/NM_003761.4/1;CC=c.163-126T>C;VC=Intron;DM=VAMP8/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:40:38:0:0:22,1,17:694,9,445:68.31,-0.01,0.00:65.18,0.01,0.00:3.13,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.96,0.00,0.00:60,60,60:38.0,122.0,26.4:0,0,0:0,0,0:56,104,78:94,36,72:41,0,33:NM_003761.4(VAMP8) c.163-126T>C,-:0.43,-:NOT_FOUND,- 2 85808594 rs397868716 CA C 56 idl,rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=CA/0.4744,C/0.5256;DB;DBA=NA;PAF=CA/0.4744,C/0.5256;NP=393;PC=0.001;Gene=VAMP8/NM_003761.4/1;CC=c.163-90delA;VC=Intron;DM=VAMP8/Synaptobrevin;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:46:46:2:26:2,23,2,19:35,658,53,748:1.49,0.00,3.06,55.89:-0.37,0.00,3.09,51.81:1.86,0.00,-0.03,4.07:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.95:60,60,60,70:44.5,33.7,92.5,39.5:0,0,0,5:0,0,0,0:25,64,7,40:126,75,143,111:6,40,4,37:-,NM_003761.4(VAMP8) c.163-104delA:-,NOT_FOUND:-,NOT_FOUND 2 85808737 rs1009 A G 203 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.5605,G/0.4395;PC=0.806;Gene=VAMP8/NM_003761.4/1;CC=c.201A>G;ProtCh=p.R67=;VC=Silent;DM=VAMP8/Synaptobrevin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:108:76:0:0:45,63:1482,2052:0.00,203.29:0.00,115.57:0.00,87.72:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.5,41.4:0,0:0,0:75,68:70,71:41,40:-,NM_003761.4(VAMP8) c.201A>G (p.(=)):-,0.45:-,0.459557 2 85808840 . G . . NT END=85811613;NT GT ./. 2 85808871 rs1058588 C T 100 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.5833,T/0.4167;PC=0.001;Gene=VAMP8/NM_003761.4/1;CC=c.*32C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:26:0:0:38,35:1226,1053:0.00,100.03:0.00,14.76:0.00,85.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,42.6:0,0:0,0:86,93:63,54:29,30:-,NM_003761.4(VAMP8) c.*32C>T:-,0.43:-,0.433723 2 85808982 rs1010 T C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=VAMP8/NM_003761.4/1;CC=c.*143T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:0:0:0:13,11:357,332:34.67,0.00:0.00,0.00:34.67,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.6,7.5:0,0:0,0:90,126:61,22:36,12:NM_003761.4(VAMP8) c.*143T>C,-:0.45,-:NOT_FOUND,- 2 85811592 rs11311 C T 171 nt VT=SNV;PN=G;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=C/0.721,T/0.279;PC=0.001;Gene=VAMP5/NM_006634.2/1;CC=c.-22C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:141:109:0:0:80,1,60:2585,13,1842:0.00,-0.10,171.33:0.00,0.01,91.12:0.00,-0.11,80.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.0,40.0,36.0:0,0,0:0,0,0:58,3,46:83,148,86:32,0,20:-,NM_006634.2(VAMP5) c.-22C>T:-,0.28:-,NOT_FOUND 2 85811617 . G . . NT END=85818847;NT GT ./. 2 85818986 . G . . NT END=85820070;NT GT ./. 2 85819923 . CA C 8 rn VT=DEL;SST=Single;DP=19;NP=8;Gene=VAMP5/NM_006634.2/1;CC=c.142-132delA;VC=Intron;DM=VAMP5/Synaptobrevin;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CA,I,C:18:19:2:3:14,1,3:443,64,97:0.00,1.97,7.69:0.00,1.97,7.69:0.00,0.00,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.00:60,60,60:22.7,60.0,4.7:0,1,0:0,0,0:51,48,17:98,97,134:28,1,15:-,NM_006634.2(VAMP5) c.142-147delA:-,NOT_FOUND:-,NOT_FOUND 2 85820281 . C . . NT END=85822886;NT GT ./. 2 85822974 . T . . NT END=85823641;NT GT ./. 2 85823774 . T . . NT END=85823944;NT GT ./. 2 85824055 . G . . NT END=85824075;NT GT ./. 2 85824303 . T . . NT END=85824567;NT GT ./. 2 85824690 . G . . NT END=85826198;NT GT ./. 2 85826441 . C . . NT END=85826647;NT GT ./. 2 85826826 . C . . NT END=85827013;NT GT ./. 2 85827142 . C . . NT END=85827467;NT GT ./. 2 85827536 . C . . NT END=85828143;NT GT ./. 2 85828231 . C . . NT END=85828557;NT GT ./. 2 85828606 . C . . NT END=85829006;NT GT ./. 2 85829072 . G . . NT END=85836067;NT GT ./. 2 85836191 . C . . NT END=85836557;NT GT ./. 2 85836710 . C . . NT END=85838365;NT GT ./. 2 85838071 rs201534136 CG C 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CG/0.001797,C/0.9982;NP=730;PC=0.001;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=C2orf68/NM_001013649.3/1;CC=c.226+719delC;VC=Intron;DM=C2orf68/UPF0561;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:4:0:6:6:189:21.76:14.31:7.45:1.00:1.00:1.00:60:8.3:0:0:78:73:60:NM_001013649.3(C2orf68) c.226+719delC,NM_001013649.3(C2orf68) c.226+719delC:0.66,0.66:NOT_FOUND,NOT_FOUND 2 85838910 . C . . NT END=85839000;NT GT ./. 2 85839108 . C . . NT END=85839448;NT GT ./. 2 85839483 . G . . NT END=85843214;NT GT ./. 2 85843587 . G . . NT END=85846342;NT GT ./. 2 85843682 . T G 14 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=106;PC=0.001;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=USP39/NM_001256727.1/0;CC=c.35-2661T>G;VC=Intron;Gene=USP39/NM_001256728.1/0;CC=c.35-2661T>G;VC=Intron;Gene=USP39/NM_001256725.1/1;CC=c.268+96T>G;VC=Intron;Gene=USP39/NM_001256726.1/0;CC=c.268+96T>G;VC=Intron;Gene=USP39/NM_006590.3/0;CC=c.268+96T>G;VC=Intron;DM=USP39/zf-UBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:G,T:106:57:0:0:11,95:241,2621:14.37,0.00:-2.56,0.00:16.93,0.00:0.99,0.00:0.99,0.00:0.99,0.00:60,60:142.2,22.2:0,0:0,0:42,136:93,14:17,9:NM_006590.3(USP39) c.268+96T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 85843688 . A G 57 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=95;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=USP39/NM_001256727.1/0;CC=c.35-2655A>G;VC=Intron;Gene=USP39/NM_001256728.1/0;CC=c.35-2655A>G;VC=Intron;Gene=USP39/NM_001256725.1/1;CC=c.268+102A>G;VC=Intron;Gene=USP39/NM_001256726.1/0;CC=c.268+102A>G;VC=Intron;Gene=USP39/NM_006590.3/0;CC=c.268+102A>G;VC=Intron;DM=USP39/zf-UBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,I:95:43:1:0:61,31,2,1:1491,678,22,19:0.00,57.00,-0.09,0.26:0.00,-2.22,0.14,-0.17:0.00,59.21,-0.23,0.43:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:25.7,86.8,27.0,11.0:0,0,0,0:0,0,0,0:138,46,125,38:11,71,23,87:10,23,3,0:-,NM_006590.3(USP39) c.268+102A>G:-,NOT_FOUND:-,NOT_FOUND 2 85843693 . T G 42 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=USP39/NM_001256727.1/0;CC=c.35-2650T>G;VC=Intron;Gene=USP39/NM_001256728.1/0;CC=c.35-2650T>G;VC=Intron;Gene=USP39/NM_001256725.1/1;CC=c.268+107T>G;VC=Intron;Gene=USP39/NM_001256726.1/0;CC=c.268+107T>G;VC=Intron;Gene=USP39/NM_006590.3/0;CC=c.268+107T>G;VC=Intron;DM=USP39/zf-UBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:78:40:0:0:2,2,29,45:22,18,496,862:0.05,-0.14,41.79,0.00:0.23,0.04,1.20,0.00:-0.18,-0.18,40.59,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:95.0,49.5,82.3,31.7:0,0,0,1:0,0,0,0:112,144,51,123:15,7,76,22:22,2,23,20:NM_006590.3(USP39) c.268+107T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 85843699 . T G 25 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=70;PC=0.002;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=USP39/NM_001256727.1/0;CC=c.35-2644T>G;VC=Intron;Gene=USP39/NM_001256728.1/0;CC=c.35-2644T>G;VC=Intron;Gene=USP39/NM_001256725.1/1;CC=c.268+113T>G;VC=Intron;Gene=USP39/NM_001256726.1/0;CC=c.268+113T>G;VC=Intron;Gene=USP39/NM_006590.3/0;CC=c.268+113T>G;VC=Intron;DM=USP39/zf-UBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:70:32:0:0:20,50:333,988:24.70,0.00:-3.12,0.00:27.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:98.0,38.2:0,1:0,0:51,119:72,27:9,26:NM_006590.3(USP39) c.268+113T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 85843801 rs550778170 CT C 37 idl,rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=27;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=USP39/NM_001256727.1/0;CC=c.35-2525delT;VC=Intron;Gene=USP39/NM_001256728.1/0;CC=c.35-2525delT;VC=Intron;Gene=USP39/NM_001256725.1/1;CC=c.268+232delT;VC=Intron;Gene=USP39/NM_001256726.1/0;CC=c.268+232delT;VC=Intron;Gene=USP39/NM_006590.3/0;CC=c.268+232delT;VC=Intron;DM=USP39/zf-UBP;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:34:1:1:16:19,1,1,13:534,13,26,490:0.00,0.17,1.30,36.74:0.00,0.00,0.00,3.32:0.00,0.17,1.30,33.42:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.57:0.00,0.00,0.00,1.00:60,60,60,60:48.0,26.0,70.0,48.5:0,0,0,3:0,0,0,0:122,7,89,101:25,143,62,50:17,0,0,26:-,NM_006590.3(USP39) c.268+216delT:-,NOT_FOUND:-,NOT_FOUND 2 85846413 . G . . NT END=85848607;NT GT ./. 2 85848703 . G . . NT END=85850748;NT GT ./. 2 85850906 . G . . NT END=85852661;NT GT ./. 2 85852815 . G . . NT END=85857843;NT GT ./. 2 85858070 . G . . NT END=85863175;NT GT ./. 2 85863254 . G . . NT END=85864491;NT GT ./. 2 85864560 . G . . NT END=85866325;NT GT ./. 2 85866515 . G . . NT END=85868098;NT GT ./. 2 85866577 rs74870292 C CT 19 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=USP39/NM_001256727.1/0;CC=c.1050+79_1050+80insT;VC=Intron;Gene=USP39/NM_001256728.1/0;CC=c.975+79_975+80insT;VC=Intron;Gene=USP39/NM_001256725.1/1;CC=c.1284+79_1284+80insT;VC=Intron;Gene=USP39/NM_001256726.1/0;CC=c.1284+79_1284+80insT;VC=Intron;Gene=USP39/NM_006590.3/0;CC=c.1284+79_1284+80insT;VC=Intron;DM=USP39/UCH;DM=USP39/UCH;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,CT,D:35:4:8:5:24,8,3:780,234,140:0.00,19.36,6.18:0.00,-0.32,-0.11:0.00,19.68,6.29:0.00,0.98,0.00:0.00,0.63,0.00:0.00,1.00,0.00:60,70,60:5.7,44.0,46.3:0,0,2:0,0,0:122,85,98:27,66,53:21,31,32:-,NM_006590.3(USP39) c.1284+63_1284+64insT:-,NOT_FOUND:-,NOT_FOUND 2 85868242 . G . . NT END=85872070;NT GT ./. 2 85872207 . G . . NT END=85875052;NT GT ./. 2 85872400 . CTT C 11 rn VT=DEL;SST=Single;DP=18;PC=0.847;Gene=USP39/NR_046347.1/0;VC=NonCoding;Gene=USP39/NM_001256727.1/0;CC=c.1329+210_1329+211delTT;VC=Intron;Gene=USP39/NM_001256728.1/0;CC=c.1254+210_1254+211delTT;VC=Intron;Gene=USP39/NM_001256725.1/1;CC=c.1563+210_1563+211delTT;VC=Intron;Gene=USP39/NM_001256726.1/0;CC=c.1428-2637_1428-2636delTT;VC=Intron;Gene=USP39/NM_006590.3/0;CC=c.1563+210_1563+211delTT;VC=Intron;DM=USP39/UCH;DM=USP39/UCH;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:CTT,I,C:17:0:1:5:12,1,4:301,31,162:0.00,2.03,11.00:0.00,0.00,0.00:0.00,2.03,11.00:0.00,0.00,0.73:0.00,0.00,0.00:0.00,0.00,0.73:60,60,60:34.2,25.0,8.8:0,0,1:0,0,0:129,80,93:19,69,56:13,0,5:-,NM_006590.3(USP39) c.1563+195_1563+196delTT:-,NOT_FOUND:-,NOT_FOUND 2 85875140 . G . . NT END=85875883;NT GT ./. 2 85875932 . A . . NT END=85888595;NT GT ./. 2 85888659 . C . . NT END=85889151;NT GT ./. 2 85889233 . C . . NT END=85889238;NT GT ./. 2 85889403 . C . . NT END=85890468;NT GT ./. 2 85890615 . C . . NT END=85890786;NT GT ./. 2 85890771 rs893159 T G 388 nt VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.02516,G/0.9748;Gene=SFTPB/NM_000542.3/0;CC=c.892+16A>C;VC=Intron;Gene=SFTPB/NM_198843.2/1;CC=c.892+16A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:109:87:0:0:109:3359:387.54:252.21:135.33:1.00:1.00:1.00:60:39.6:0:0:51:95:34:NM_198843.2(SFTPB) c.892+16A>C,NM_198843.2(SFTPB) c.892+16A>C:0.97,0.97:0.936201,0.936201 2 85890971 . C . . NT END=85892411;NT GT ./. 2 85892502 . C . . NT END=85892728;NT GT ./. 2 85892918 . C . . NT END=85893739;NT GT ./. 2 85893546 rs34334231 T TTGTG 15 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=8;Gene=SFTPB/NM_000542.3/0;CC=c.429+193_429+194insCACA;VC=Intron;Gene=SFTPB/NM_198843.2/1;CC=c.429+193_429+194insCACA;VC=Intron;DM=SFTPB/SapB_2;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:T,TTGTG,D:10:9:6:1:4,5,1:119,173,31:0.00,14.52,2.37:0.00,11.55,2.41:0.00,2.97,-0.04:0.00,0.93,0.00:0.00,0.99,0.00:0.00,0.75,0.00:60,60,60:14.5,67.4,36.0:0,1,0:0,0,0:67,50,8:82,99,143:33,17,0:-,NM_198843.2(SFTPB) c.429+193_429+194insCACA:-,NOT_FOUND:-,NOT_FOUND 2 85893616 . C CTG 40 rn VT=INS;SST=Single;DP=28;NP=10;PC=0.001;Gene=SFTPB/NM_000542.3/0;CC=c.429+123_429+124insCA;VC=Intron;Gene=SFTPB/NM_198843.2/1;CC=c.429+123_429+124insCA;VC=Intron;DM=SFTPB/SapB_2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CTG:28:25:13:0:13,2,13:337,43,415:0.00,2.57,39.90:0.00,2.66,33.72:0.00,-0.10,6.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:44.7,68.5,9.3:0,2,0:0,0,0:76,65,26:75,85,117:41,51,10:-,NM_198843.2(SFTPB) c.429+123_429+124insCA:-,NOT_FOUND:-,NOT_FOUND 2 85893741 rs1130866 G A 122 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.48,A/0.52;PC=0.970;Gene=SFTPB/NM_000542.3/0;CC=c.428C>T;ProtCh=p.T143I;VC=Missense;Gene=SFTPB/NM_198843.2/1;CC=c.428C>T;ProtCh=p.T143I;VC=Missense;DM=SFTPB/SapB_2;DM=SFTPB/SapB_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:58:0:0:40,36:1262,1170:122.43,0.00:65.28,0.00:57.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,9.7:0,0:0,0:74,80:67,64:41,41:NM_198843.2(SFTPB) c.428C>T (p.Thr143Ile),-:0.51,-:0.598877,- 2 85893866 . C . . NT END=85894228;NT GT ./. 2 85894301 . C . . NT END=85894801;NT GT ./. 2 85894930 . C . . NT END=85895239;NT GT ./. 2 85895343 . G . . NT END=85921541;NT GT ./. 2 85921353 rs1866140 G T 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6769,T/0.3231 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:312:35.97:35.97:0.00:1.00:1.00:0.00:60:64.0:0:0:22:128:14:NM_006433.3(GNLY) c.-128-u61G>T,NM_006433.3(GNLY) c.-128-u61G>T:0.35,0.35:NOT_FOUND,NOT_FOUND 2 85921389 rs1866139 G C 73 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4577,C/0.5423 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:20:0:0:20:636:73.10:73.10:0.00:1.00:1.00:0.00:60:48.2:0:0:26:123:21:NM_006433.3(GNLY) c.-128-u25G>C,NM_006433.3(GNLY) c.-128-u25G>C:0.53,0.53:NOT_FOUND,NOT_FOUND 2 85921594 . G . . NT END=85921875;NT GT ./. 2 85921734 rs55813598 G GC 94 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2131;PC=0.001;Gene=GNLY/NM_001302758.1/0;CC=c.52+143dupC;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.52+143dupC;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.-237-140dupC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,GC:31:18:27:0:4,27:123,867:0.00,94.40:0.00,61.00:0.00,33.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.2,36.1:1,0:0,0:147,65:4,86:1,32:-,NM_006433.3(GNLY) c.52+141_52+142insC:-,1:-,NOT_FOUND 2 85921761 rs1866138 A G 126 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.4842,G/0.5158;PC=0.032;Gene=GNLY/NM_001302758.1/0;CC=c.52+168A>G;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.52+168A>G;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.-237-115A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G:38:28:0:0:38:1076:125.63:81.55:44.09:1.00:1.00:1.00:60:37.6:0:0:56:91:37:NM_006433.3(GNLY) c.52+168A>G,NM_006433.3(GNLY) c.52+168A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 85921992 rs2043760 T C 377 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.3822,C/0.6178;Gene=GNLY/NM_001302758.1/0;CC=c.53-47T>C;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.52+399T>C;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.-121T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:109:77:0:0:107,1,1:3285,10,11:377.11,0.09,0.00:196.56,0.09,0.00:180.55,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.3,154.0,119.0:0,0,0:0,0,0:87,75,63:57,32,86:35,0,0:NM_006433.3(GNLY) c.52+399T>C,NM_006433.3(GNLY) c.52+399T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 2 85922120 . G . . NT END=85922442;NT GT ./. 2 85922547 . G . . NT END=85923080;NT GT ./. 2 85922860 rs2070966 G T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6424,T/0.3576;PC=0.065;Gene=GNLY/NM_001302758.1/0;CC=c.238-221G>T;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.157-221G>T;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.112-221G>T;VC=Intron;DM=GNLY/SapB_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:3:0:0:4:94:11.25:8.27:2.98:1.00:1.00:1.00:60:40.0:0:0:53:97:15:NM_006433.3(GNLY) c.157-221G>T,NM_006433.3(GNLY) c.157-221G>T:0.37,0.37:NOT_FOUND,NOT_FOUND 2 85923180 . G . . NT END=85924628;NT GT ./. 2 85924384 rs1561285 C G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5381,G/0.4619;Gene=GNLY/NM_001302758.1/0;CC=c.337-245C>G;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.256-245C>G;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.211-245C>G;VC=Intron;DM=GNLY/SapB_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:197:22.56:22.56:0.00:1.00:1.00:0.00:60:50.2:0:0:64:79:16:NM_006433.3(GNLY) c.256-245C>G,NM_006433.3(GNLY) c.256-245C>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 85924729 rs11127 C T 335 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.6563,T/0.3437;PC=0.001;Gene=GNLY/NM_001302758.1/0;CC=c.437C>T;ProtCh=p.T146I;VC=Missense;Gene=GNLY/NM_006433.4/0;CC=c.356C>T;ProtCh=p.T119I;VC=Missense;Gene=GNLY/NM_012483.3/1;CC=c.311C>T;ProtCh=p.T104I;VC=Missense;DM=GNLY/SapB_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:92:61:0:0:92:2913:335.01:158.81:176.20:1.00:1.00:1.00:60:37.7:0:0:76:73:34:NM_006433.3(GNLY) c.356C>T (p.Thr119Ile),NM_006433.3(GNLY) c.356C>T (p.Thr119Ile):0.37,0.37:0.290328,0.290328 2 85924801 . G . . NT END=85925686;NT GT ./. 2 85924899 rs1437742 T A 89 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5425,A/0.4575;Gene=GNLY/NM_001302758.1/0;CC=c.508+99T>A;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.427+99T>A;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.382+99T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A,C:27:1:0:0:26,1:775,11:89.35,0.35:3.26,0.00:86.09,0.35:1.00,0.00:0.97,0.00:1.00,0.00:60,60:45.5,11.0:0,0:0,0:99,131:52,19:34,0:NM_006433.3(GNLY) c.427+99T>A,NM_006433.3(GNLY) c.427+99T>A:0.47,0.47:NOT_FOUND,NOT_FOUND 2 85924989 rs1437743 C T 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.656,T/0.344;Gene=GNLY/NM_001302758.1/0;CC=c.508+189C>T;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.427+189C>T;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.382+189C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:267:30.96:0.00:30.96:1.00:0.00:1.00:60:70.7:0:0:127:24:21:NM_006433.3(GNLY) c.427+189C>T,NM_006433.3(GNLY) c.427+189C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 2 85925386 rs1866141 T C 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5423,C/0.4577;PC=0.002;Gene=GNLY/NM_001302758.1/0;CC=c.509-301T>C;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.428-301T>C;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.383-301T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C,T:12:12:0:0:11,1:335,9:37.40,0.00:37.40,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:61.6,85.0:0,0:0,0:87,29:64,122:28,0:NM_006433.3(GNLY) c.428-301T>C,NM_006433.3(GNLY) c.428-301T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 85925529 rs4240200 A G 189 nt VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.6673,G/0.3327;PC=0.002;Gene=GNLY/NM_001302758.1/0;CC=c.509-158A>G;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.428-158A>G;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.383-158A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G:52:47:0:0:52:1644:189.15:152.69:36.45:1.00:1.00:1.00:60:48.9:0:0:41:109:27:NM_006433.3(GNLY) c.428-158A>G,NM_006433.3(GNLY) c.428-158A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 2 85925667 rs4240201 G A 370 nt VT=SNV;PN=T;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.6569,A/0.3431;PC=0.015;Gene=GNLY/NM_001302758.1/0;CC=c.509-20G>A;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.428-20G>A;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.383-20G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:100:72:0:0:99,1:3250,33:369.66,0.00:199.62,0.00:170.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.4,0.0:0,0:0,0:78,59:73,92:32,0:NM_006433.3(GNLY) c.428-20G>A,NM_006433.3(GNLY) c.428-20G>A:0.37,0.37:0.290097,0.290097 2 85925680 rs4240202 T G 352 nt VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.5429,A/.,G/0.4571;Gene=GNLY/NM_001302758.1/0;CC=c.509-7T>G;VC=Intron;Gene=GNLY/NM_006433.4/0;CC=c.428-7T>G;VC=Intron;Gene=GNLY/NM_012483.3/1;CC=c.383-7T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:99:71:0:0:1,97,1:14,3088,29:0.23,352.22,0.00:0.23,181.58,0.00:-0.00,170.64,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:90.0,83.0,0.0:0,0,0:0,0,0:2,75,72:149,73,79:0,34,0:NM_006433.3(GNLY) c.428-7T>G,NM_006433.3(GNLY) c.428-7T>G:0.47,0.47:0.42242,0.42242 2 85925756 rs7908 C G 343 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.5431,G/0.4569;PC=0.002;Gene=GNLY/NM_001302758.1/0;CC=c.*59C>G;VC=3UTR;Gene=GNLY/NM_006433.4/0;CC=c.*59C>G;VC=3UTR;Gene=GNLY/NM_012483.3/1;CC=c.*59C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:99:60:0:0:1,1,97:13,31,3000:0.19,0.00,343.48:0.19,0.00,167.77:-0.00,0.00,175.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:101.0,0.0,76.6:0,0,0:0,0,0:144,148,72:6,3,79:0,0,35:NM_006433.3(GNLY) c.*59C>G,NM_006433.3(GNLY) c.*59C>G:0.47,0.47:0.410644,0.410644 2 85925848 rs12845 C G 413 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.5431,G/0.4569;Gene=GNLY/NM_001302758.1/0;CC=c.*151C>G;VC=3UTR;Gene=GNLY/NM_006433.4/0;CC=c.*151C>G;VC=3UTR;Gene=GNLY/NM_012483.3/1;CC=c.*151C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:113:72:0:0:1,112:10,3611:0.00,412.55:0.00,209.45:0.00,203.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.0,48.4:0,0:0,0:104,64:47,82:0,32:NM_006433.3(GNLY) c.*151C>G,NM_006433.3(GNLY) c.*151C>G:0.47,0.47:NOT_FOUND,NOT_FOUND 2 85925957 . a . . NT END=85981312;NT GT ./. 2 85926077 rs57942827 T TGCG 128 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.5387,TGCG/0.4613;DB;DBA=NA;PAF=T/0.5387,TGCG/0.4613;DB;DBA=NA;PAF=T/0.5387,TGCG/0.4613;NP=7;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:T,TGCG:46:17:38:0:8,38:238,1194:0.00,128.29:0.00,34.28:0.00,94.02:0.00,1.00:0.00,1.00:0.00,1.00:60,70:6.9,13.9:1,0:0,0:146,114:3,36:2,19:-,chr2 g.85926077_85926078insGCG (intergenic):-,0.48:-,NOT_FOUND 2 85926142 rs10192752 T G 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5387,G/0.4613 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:0:0:0:15:495:56.65:0.00:56.65:1.00:0.00:1.00:60:63.1:0:0:128:23:15:chr2 g.85926141T>G (intergenic),chr2 g.85926141T>G (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 2 85926190 rs10203826 A C 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5387,C/0.4613;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:260:29.81:0.00:29.81:1.00:0.00:1.00:60:120.0:0:0:76:74:30:chr2 g.85926189A>C (intergenic),chr2 g.85926189A>C (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 2 85926218 rs10180445 G C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5387,C/0.4613 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:261:29.91:0.00:29.91:1.00:0.00:1.00:60:133.6:0:0:74:77:37:chr2 g.85926217G>C (intergenic),chr2 g.85926217G>C (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 2 85926238 rs10180451 G T 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5387,T/0.4613;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:243:28.11:0.00:28.11:1.00:0.00:1.00:60:133.6:0:0:94:57:37:chr2 g.85926237G>T (intergenic),chr2 g.85926237G>T (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 2 85926305 rs10180547 G A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5385,A/0.4615;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:103:12.20:0.00:12.20:1.00:0.00:1.00:60:105.8:0:0:93:55:18:chr2 g.85926304G>A (intergenic),chr2 g.85926304G>A (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 2 85926345 rs10180391 C T 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6675,T/0.3325 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:87:10.53:0.00:10.53:1.00:0.00:1.00:60:90.8:0:0:97:53:36:chr2 g.85926344C>T (intergenic),chr2 g.85926344C>T (intergenic):0.37,0.37:NOT_FOUND,NOT_FOUND 2 85981761 rs17851881 T C 791 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=233;DB;DBA=NA;PAF=T/0.4289,A/.,C/0.5711;PC=0.914;Gene=ATOH8/NM_032827.6/1;CC=c.449T>C;ProtCh=p.L150P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:233:143:0:0:1,229,3:11,6896,79:0.05,791.35,0.00:0.05,352.02,0.00:-0.00,439.32,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:210.0,42.2,62.7:0,0,0:0,0,0:113,85,64:38,63,87:0,34,53:NM_032827.6(ATOH8) c.449T>C (p.Leu150Pro),NM_032827.6(ATOH8) c.449T>C (p.Leu150Pro):0.62,0.62:0.556699,0.556699 2 85982081 . G . . NT END=85991113;NT GT ./. 2 85990847 rs4832195 A G 30 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2608,G/0.7392;Gene=ATOH8/NM_032827.6/1;CC=c.769-267A>G;VC=Intron;DM=ATOH8/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:261:29.91:28.18:1.74:1.00:1.00:1.00:60:70.5:0:0:80:71:25:NM_032827.6(ATOH8) c.769-267A>G,NM_032827.6(ATOH8) c.769-267A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 85990895 rs4832196 T C 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3083,C/0.6917;Gene=ATOH8/NM_032827.6/1;CC=c.769-219T>C;VC=Intron;DM=ATOH8/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:8:0:0:10:294:34.15:25.41:8.74:1.00:1.00:1.00:60:63.0:0:0:54:86:43:NM_032827.6(ATOH8) c.769-219T>C,NM_032827.6(ATOH8) c.769-219T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 85990944 rs71405887 C CGT 15 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;NP=30;PC=0.002;Gene=ATOH8/NM_032827.6/1;CC=c.769-134_769-133insGT;VC=Intron;DM=ATOH8/HLH;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,CGT,D:15:18:10:2:8,5,2:234,286,59:0.00,14.88,4.49:0.00,11.91,4.61:0.00,2.96,-0.11:0.00,0.85,0.00:0.00,0.98,0.00:0.00,0.75,0.00:60,60,60:72.4,95.4,23.5:0,5,0:0,0,0:67,32,40:47,118,110:36,14,2:-,NM_032827.6(ATOH8) c.769-170_769-169insGT:-,NOT_FOUND:-,NOT_FOUND 2 85991306 . G . . NT END=86001270;NT GT ./. 2 86001255 rs1465821 A G 95 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.5473,G/0.4527;Gene=ATOH8/NM_032827.6/1;CC=c.960+9950A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:65:0:0:49,32:1611,1032:0.00,94.87:0.00,67.34:0.00,27.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,37.9:0,0:0,0:53,59:98,91:32,25:-,NM_032827.6(ATOH8) c.960+9950A>G:-,0.45:-,NOT_FOUND 2 86001628 rs6746541 T C 196 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=T/0.5258,C/0.4742;Gene=ATOH8/NM_032827.6/1;CC=c.960+10323T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:139:83:0:0:64,1,74:2066,18,2310:195.72,0.14,0.00:86.65,0.25,0.00:109.07,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.8,165.0,9.0:0,0,0:0,0,0:82,63,67:66,88,78:33,0,34:NM_032827.6(ATOH8) c.960+10323T>C,-:0.5,-:NOT_FOUND,- 2 86001769 rs11688843 C T 139 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.6709,T/0.3291;PC=0.002;Gene=ATOH8/NM_032827.6/1;CC=c.960+10464C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:59:0:0:55,46:1824,1473:0.00,139.01:0.00,48.86:0.00,90.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,35.8:0,0:0,0:91,90:59,57:31,31:-,NM_032827.6(ATOH8) c.960+10464C>T:-,0.32:-,NOT_FOUND 2 86002007 rs4832013 C T 60 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6641,T/0.3359;PC=0.295;Gene=ATOH8/NM_032827.6/1;CC=c.960+10702C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:24:0:0:23,22:773,635:0.00,60.41:0.00,28.15:0.00,32.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,41.4:0,0:0,0:49,75:100,75:21,48:-,NM_032827.6(ATOH8) c.960+10702C>T:-,0.33:-,NOT_FOUND 2 86002303 rs1048084 A G 56 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.5268,G/0.4732;Gene=ATOH8/NM_032827.6/1;CC=c.960+10998A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:27:0:0:19,20:630,587:0.00,56.47:0.00,34.48:0.00,21.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.7,38.9:0,0:0,0:37,49:114,102:30,26:-,NM_032827.6(ATOH8) c.960+10998A>G:-,0.48:-,NOT_FOUND 2 86002337 . c . . NT END=86008087;NT GT ./. 2 86002360 rs141216638 T C 69 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.993,C/0.006989;NP=12;PC=0.001;Gene=ATOH8/NM_032827.6/1;CC=c.960+11055T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:26:0:0:22,22:721,655:69.38,0.00:38.73,0.00:30.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,27.4:0,0:0,0:67,64:83,84:35,33:NM_032827.6(ATOH8) c.960+11055T>C,-:0.01,-:NOT_FOUND,- 2 86008268 . c . . NT END=86014007;NT GT ./. 2 86014014 . C . . NT END=86067266;NT GT ./. 2 86067516 . C . . NT END=86071518;NT GT ./. 2 86071678 . C . . NT END=86073499;NT GT ./. 2 86073687 . C . . NT END=86074504;NT GT ./. 2 86074686 . C . . NT END=86074983;NT GT ./. 2 86075505 . C . . NT END=86078386;NT GT ./. 2 86076978 rs376772457 A CGT 7 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;NP=5;Gene=ST3GAL5/NM_003896.3/1;CC=c.319-1652_319-1651insAC;VC=Intron;Gene=ST3GAL5/NM_001042437.1/0;CC=c.250-1652_250-1651insAC;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,CGT,D:5:4:3:1:2,2,1:70,90,26:0.00,6.55,2.14:0.00,2.31,-0.04:0.00,4.24,2.18:0.00,0.42,0.00:0.00,0.81,0.00:0.00,0.42,0.00:60,60,60:0.0,27.0,101.0:0,1,0:0,0,0:98,51,93:32,88,56:22,16,0:-,NM_003896.3(ST3GAL5) c.319-1651delTinsACG:-,NOT_FOUND:-,NOT_FOUND 2 86078409 rs143710359 C T 133 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.9972,T/0.002796;NP=5;Gene=ST3GAL5/NM_003896.3/1;CC=c.319-3082G>A;VC=Intron;Gene=ST3GAL5/NM_001042437.1/0;CC=c.250-3082G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:81:0:0:47,44:1497,1397:0.00,133.33:0.00,97.04:0.00,36.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,36.5:0,0:0,0:66,40:85,104:34,24:-,NM_003896.3(ST3GAL5) c.319-3082G>A:-,0.0046:-,NOT_FOUND 2 86078827 . C . . NT END=86079982;NT GT ./. 2 86080215 . C . . NT END=86088303;NT GT ./. 2 86088416 . C . . NT END=86090484;NT GT ./. 2 86090609 . C . . NT END=86115946;NT GT ./. 2 86116029 . A . . NT END=86254545;NT GT ./. 2 86254647 . C . . NT END=86255007;NT GT ./. 2 86255173 . C . . NT END=86255716;NT GT ./. 2 86255835 . C . . NT END=86257318;NT GT ./. 2 86257520 . C . . NT END=86258452;NT GT ./. 2 86258759 . C . . NT END=86259394;NT GT ./. 2 86259443 rs2276626 C T 137 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.4231,A/.,T/0.5769;PC=0.001;Gene=POLR1A/NM_015425.3/1;CC=c.4224G>A;ProtCh=p.G1408=;VC=Silent;DM=POLR1A/RNA_pol_Rpb1_5;DM=POLR1A/RNA_pol_Rpb1_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:88:65:0:0:45,1,42:1463,12,1432:0.00,-0.05,137.06:0.00,0.06,61.35:0.00,-0.11,75.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.6,118.0,40.4:0,0,0:0,0,0:86,123,75:59,26,71:30,0,28:-,NM_015425.3(POLR1A) c.4224G>A (p.(=)):-,0.57:-,0.697751 2 86259506 . C . . NT END=86260783;NT GT ./. 2 86260911 . C . . NT END=86265822;NT GT ./. 2 86265981 . C . . NT END=86266449;NT GT ./. 2 86266274 rs2289237 C G 18 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9389,G/0.0611;Gene=POLR1A/NM_015425.3/1;CC=c.3876+176G>C;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_5;DM=POLR1A/RNA_pol_Rpb1_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:13:0:0:9,7:289,196:0.00,18.16:0.00,19.02:0.00,-0.86:0.00,0.98:0.00,1.00:0.00,0.90:60,60:3.1,58.6:0,0:0,0:70,81:56,69:43,10:-,NM_015425.3(POLR1A) c.3876+176G>C:-,0.07:-,NOT_FOUND 2 86266586 . C . . NT END=86267514;NT GT ./. 2 86267683 . C . . NT END=86269011;NT GT ./. 2 86268489 rs116470570 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9111,T/0.08886;Gene=POLR1A/NM_015425.3/1;CC=c.3572+523G>A;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_5;DM=POLR1A/RNA_pol_Rpb1_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,T:5:4:0:0:2,3:40,92:0.00,9.19:0.00,6.29:0.00,2.91:0.00,0.78:0.00,0.97:0.00,0.94:60,60:43.5,34.7:0,0:0,0:120,19:24,130:10,16:-,NM_015425.3(POLR1A) c.3572+523G>A:-,0.14:-,NOT_FOUND 2 86269227 . C . . NT END=86270096;NT GT ./. 2 86270319 . C . . NT END=86271261;NT GT ./. 2 86271428 . C . . NT END=86272400;NT GT ./. 2 86272484 . C . . NT END=86272739;NT GT ./. 2 86272758 rs1561328 G A 183 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.7823,A/0.2177;PC=1.000;Gene=POLR1A/NM_015425.3/1;CC=c.2868C>T;ProtCh=p.L956=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:110:96:0:0:58,52:1879,1747:182.54,0.00:126.51,0.00:56.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,6.7:0,0:0,0:54,50:91,93:35,37:NM_015425.3(POLR1A) c.2868C>T (p.(=)),-:0.19,-:0.168206,- 2 86272893 . C . . NT END=86274287;NT GT ./. 2 86273116 rs73947314 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9229,C/0.07708;Gene=POLR1A/NM_015425.3/1;CC=c.2734-224A>G;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_4;DM=POLR1A/RNA_pol_Rpb1_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:13:0:0:0:6,7:163,223:15.22,0.00:0.00,0.00:15.22,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:42.3,14.3:0,0:0,0:100,92:44,59:16,47:NM_015425.3(POLR1A) c.2734-224A>G,-:0.09,-:NOT_FOUND,- 2 86274387 . C . . NT END=86276006;NT GT ./. 2 86276166 . C . . NT END=86276282;NT GT ./. 2 86276366 . C . . NT END=86279939;NT GT ./. 2 86280124 . C . . NT END=86281262;NT GT ./. 2 86281413 . C . . NT END=86292396;NT GT ./. 2 86292589 . C . . NT END=86297140;NT GT ./. 2 86292656 rs311563 C T 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.2127,T/0.7873;PC=0.003;Gene=POLR1A/NM_015425.3/1;CC=c.1867-68G>A;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_3;DM=POLR1A/RNA_pol_Rpb1_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:17:0:0:33,23:964,728:0.00,67.31:0.00,17.41:0.00,49.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.7,42.5:0,0:0,0:105,103:46,43:18,21:-,NM_015425.3(POLR1A) c.1867-68G>A:-,0.78:-,NOT_FOUND 2 86297396 . C . . NT END=86302152;NT GT ./. 2 86298351 rs3077169 A ATGTG 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1691,G/0.8309;DB;DBA=NA;PAF=NA;NP=1;Gene=POLR1A/NM_015425.3/1;CC=c.1612-957_1612-956insCACA;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,ATGTG:5:4:3:1:2,3:42,98:0.00,9.80:0.00,10.20:0.00,-0.40:0.00,0.78:0.00,0.97:0.00,0.73:60,60:48.5,11.0:1,0:0,0:124,30:11,111:10,16:-,NM_015425.3(POLR1A) c.1612-957_1612-956insCACA:-,NOT_FOUND:-,NOT_FOUND 2 86302103 rs3815840 A G 61 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.1841,G/0.8159;Gene=POLR1A/NM_015425.3/1;CC=c.1611+50T>C;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:40:0:0:23,20:763,645:0.00,61.14:0.00,56.85:0.00,4.29:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.3,36.5:0,0:0,0:54,58:96,92:29,34:-,NM_015425.3(POLR1A) c.1611+50T>C:-,0.81:-,0.851449 2 86302384 . C . . NT END=86304981;NT GT ./. 2 86304926 rs73947323 G A 84 nt VT=SNV;PN=C;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.8954,A/0.1046;NP=169;Gene=POLR1A/NM_015425.3/1;CC=c.1380+56C>T;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:79:75:0:0:28,51:926,1588:83.68,0.00:73.63,0.00:10.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.0,14.7:0,5:0,0:56,55:91,95:19,27:NM_015425.3(POLR1A) c.1380+56C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 86304932 rs55908219 GCGCACACACACACACA G 103 idl,nt VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=183;PC=0.985;Gene=POLR1A/NM_015425.3/1;CC=c.1380+34_1380+49delTGTGTGTGTGTGTGCG;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCGCACACACACACACA,G:75:75:0:40:41,34:1219,1281:0.00,103.45:0.00,69.06:0.00,34.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.5,13.7:23,6:0,0:77,39:63,107:29,16:-,NM_015425.3(POLR1A) c.1380+34_1380+49delTGTGTGTGTGTGTGCG:-,NOT_FOUND:-,NOT_FOUND 2 86304934 rs56874564 GCACACACACA G 69 idl,nt VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=1;PC=0.853;Gene=POLR1A/NM_015425.3/1;CC=c.1380+38_1380+47delTGTGTGTGTG;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,GCACACACACA,G:38:40:0:65:7,10,21:217,293,776:18.88,0.00,68.57:17.27,0.00,51.93:1.61,0.00,16.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:40.1,41.3,42.9:0,0,3:0,0,0:111,99,51:30,34,96:17,19,12:-,NM_015425.3(POLR1A) c.1380+38_1380+47delTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 86304936 rs373790562 A G 8 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=8;PC=0.005;Gene=POLR1A/NM_015425.3/1;CC=c.1380+46T>C;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G:15:15:0:65:12,3:363,94:0.00,7.58:0.00,7.62:0.00,-0.05:0.00,0.55:0.00,0.55:0.00,0.47:60,60:33.2,76.0:0,0:0,0:92,120:28,30:11,6:-,NM_015425.3(POLR1A) c.1380+46T>C:-,NOT_FOUND:-,0.00041 2 86304946 . A G 48 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;PC=0.965;Gene=POLR1A/NM_015425.3/1;CC=c.1380+36T>C;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:36:0:44:21,17:620,508:0.00,47.51:0.00,32.78:0.00,14.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.4,50.8:3,16:0,0:98,47:24,101:29,11:-,NM_015425.3(POLR1A) c.1380+36T>C:-,NOT_FOUND:-,NOT_FOUND 2 86304948 . A G 11 idl;end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=55;PC=0.985;Gene=POLR1A/NM_015425.3/1;CC=c.1380+34T>C;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_2;DM=POLR1A/RNA_pol_Rpb1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,C,G:55:52:0:40:48,1,6:1581,12,158:0.00,-0.13,10.53:0.00,-0.04,9.65:0.00,-0.09,0.88:0.00,0.00,0.83:0.00,0.00,0.99:0.00,0.00,0.82:60,60,60:40.1,70.0,49.2:22,0,2:0,0,0:52,108,0:90,16,129:35,0,0:-,NM_015425.3(POLR1A) c.1380+34T>C:-,NOT_FOUND:-,NOT_FOUND 2 86305105 . C . . NT END=86305236;NT GT ./. 2 86305123 rs2288117 T C 402 nt VT=SNV;PN=G;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=T/0.1052,C/0.8948;Gene=POLR1A/NM_015425.3/1;CC=c.1258-19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:112:50:0:0:111,1:3510,12:401.70,0.00:160.58,0.00:241.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,0.0:0,0:0,0:96,145:55,5:34,0:NM_015425.3(POLR1A) c.1258-19A>G,NM_015425.3(POLR1A) c.1258-19A>G:0.9,0.9:0.892936,0.892936 2 86305408 . C . . NT END=86307938;NT GT ./. 2 86305534 rs74607112 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.8826,C/0.1174;Gene=POLR1A/NM_015425.3/1;CC=c.1087-127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:22:0:0:0:8,14:201,384:17.62,0.00:0.00,0.00:17.62,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:59.2,14.1:0,0:0,0:127,95:24,56:16,22:NM_015425.3(POLR1A) c.1087-127A>G,-:0.13,-:NOT_FOUND,- 2 86307884 rs397840354 CAG C 85 nt VT=DEL;SST=Single;DP=70;DB;DBA=NA;PAF=CAG/0.8293,C/0.1707;DB;DBA=NA;PAF=CAG/0.8293,C/0.1707;NP=587;Gene=POLR1A/NM_015425.3/1;CC=c.1086+53_1086+54delCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAG,C:70:66:0:29:41,29:1354,921:0.00,85.32:0.00,62.06:0.00,23.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,14.9:0,0:0,0:51,35:100,116:33,14:-,NM_015425.3(POLR1A) c.1086+53_1086+54delCT:-,0.17:-,NOT_FOUND 2 86308102 . C . . NT END=86308723;NT GT ./. 2 86308830 . C . . NT END=86310204;NT GT ./. 2 86309032 rs78032828 G A 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8828,A/0.1172;PC=0.004;Gene=POLR1A/NM_015425.3/1;CC=c.818-203C>T;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:8:0:0:0:4,4:124,139:11.90,0.00:0.00,0.00:11.90,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:42.2,4.8:0,0:0,0:48,136:101,15:11,5:NM_015425.3(POLR1A) c.818-203C>T,-:0.12,-:NOT_FOUND,- 2 86310110 rs2288118 C T 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3167,T/0.6833;Gene=POLR1A/NM_015425.3/1;CC=c.817+95G>A;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:12:12:0:0:5,7:172,235:0.00,23.30:0.00,21.48:0.00,1.82:0.00,0.99:0.00,0.99:0.00,0.72:60,60:0.0,33.6:0,0:0,0:52,38:99,113:23,3:-,NM_015425.3(POLR1A) c.817+95G>A:-,0.69:-,NOT_FOUND 2 86310292 . C . . NT END=86315688;NT GT ./. 2 86315526 rs2288119 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2812,C/0.7188;Gene=POLR1A/NM_015425.3/1;CC=c.730+163A>G;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,T:9:9:0:0:6,3:185,73:18.90,0.00:18.90,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:56.2,22.0:0,0:0,0:67,91:83,59:52,23:NM_015425.3(POLR1A) c.730+163A>G,-:0.72,-:NOT_FOUND,- 2 86315741 rs2288120 C T 117 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.3421,T/0.6579;PC=0.116;Gene=POLR1A/NM_015425.3/1;CC=c.678G>A;ProtCh=p.T226=;VC=Silent;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:62:0:0:47,38:1528,1245:0.00,117.25:0.00,47.25:0.00,69.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,37.2:0,0:0,0:76,83:73,64:36,40:-,NM_015425.3(POLR1A) c.678G>A (p.(=)):-,0.67:-,0.708025 2 86315793 . C . . NT END=86315907;NT GT ./. 2 86315994 . C . . NT END=86316944;NT GT ./. 2 86316174 rs1991106 T C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2812,C/0.7188;Gene=POLR1A/NM_015425.3/1;CC=c.541-181A>G;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:0:0:0:3,1:105,32:10.95,0.00:0.00,0.00:10.95,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:35.0,0.0:0,0:0,0:69,119:82,31:7,0:NM_015425.3(POLR1A) c.541-181A>G,-:0.72,-:NOT_FOUND,- 2 86316948 rs114299317 T G 15 sb VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.9984,G/0.001597;NP=20;PC=0.427;Gene=POLR1A/NM_015425.3/1;CC=c.537A>C;ProtCh=p.A179=;VC=Silent;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:G,T:20:18:0:0:6,14:172,448:14.75,0.00:13.97,0.00:0.77,0.00:0.94,0.00:0.99,0.00:0.95,0.00:60,60:62.2,1.8:0,0:0,0:26,31:124,110:14,14:NM_015425.3(POLR1A) c.537A>C (p.(=)),-:0.0027,-:0.003964,- 2 86317037 rs4832242 G C 34 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.245,C/0.755;Gene=POLR1A/NM_015425.3/1;CC=c.448C>G;ProtCh=p.P150A;VC=Missense;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:36:27:0:0:11,24,1:381,758,9:33.89,0.00,-0.10:21.70,0.00,0.06:12.19,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.0,11.6,176.0:0,0,0:0,0,0:81,82,56:60,66,95:23,25,0:NM_015425.3(POLR1A) c.448C>G (p.Pro150Ala),-:0.76,-:0.787864,- 2 86317053 . C . . NT END=86325733;NT GT ./. 2 86325884 . C . . NT END=86327090;NT GT ./. 2 86326133 rs11127015 A G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1074,G/0.8926;Gene=POLR1A/NM_015425.3/1;CC=c.283-250T>C;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:61.0:0:0:58:92:42:NM_015425.3(POLR1A) c.283-250T>C,NM_015425.3(POLR1A) c.283-250T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 86327296 . C . . NT END=86332822;NT GT ./. 2 86332656 rs4832244 T G 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3223,G/0.6777;Gene=POLR1A/NM_015425.3/1;CC=c.77+167A>C;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:G,T:14:14:0:0:6,8:184,236:17.11,0.00:17.11,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:43.5,2.6:0,0:0,0:5,38:146,112:4,28:NM_015425.3(POLR1A) c.77+167A>C,-:0.68,-:NOT_FOUND,- 2 86332809 rs4832245 G A 77 nt VT=SNV;PN=C;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.3223,A/0.6777;PC=0.966;Gene=POLR1A/NM_015425.3/1;CC=c.77+14C>T;VC=Intron;DM=POLR1A/RNA_pol_Rpb1_1;DM=POLR1A/RNA_pol_Rpb1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:49:0:0:25,31:821,923:77.39,0.00:60.99,0.00:16.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,9.9:0,0:0,0:31,50:120,98:24,20:NM_015425.3(POLR1A) c.77+14C>T,-:0.69,-:0.732508,- 2 86332900 . C . . NT END=86333370;NT GT ./. 2 86333193 rs2303340 T C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8912,C/0.1088;PC=0.001;Gene=POLR1A/NM_015425.3/1;CC=c.-294A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,C,T:17:14:0:0:1,6,10:8,184,281:0.01,16.64,0.00:0.04,12.50,0.00:-0.03,4.14,0.00:0.00,0.95,0.00:0.00,0.99,0.00:0.00,0.75,0.00:60,60,60:91.0,57.7,5.7:0,0,0:0,0,0:20,82,49:131,68,101:0,7,16:NM_015425.3(POLR1A) c.-294A>G,-:0.11,-:NOT_FOUND,- 2 86333475 . G . . NT END=86335472;NT GT ./. 2 86335526 . G . . NT END=86335622;NT GT ./. 2 86335660 . G . . NT END=86338235;NT GT ./. 2 86335718 rs979940 G A 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1184,A/0.8816;Gene=PTCD3/NM_017952.5/1;CC=c.194+59G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:9:0:0:25:807:92.55:23.91:68.63:1.00:1.00:1.00:60:33.6:0:0:96:55:16:NM_017952.5(PTCD3) c.194+59G>A,NM_017952.5(PTCD3) c.194+59G>A:0.88,0.88:0.872098,0.872098 2 86338282 . G . . NT END=86343652;NT GT ./. 2 86338568 rs4344936 A G 12 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6689,G/0.3311;Gene=PTCD3/NM_017952.5/1;CC=c.240+287A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:98:11.68:0.93:10.75:1.00:1.00:1.00:40:63.2:0:0:121:29:7:NM_017952.5(PTCD3) c.240+287A>G,NM_017952.5(PTCD3) c.240+287A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 2 86338580 rs4453697 A G 15 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.003195,G/0.9968;Gene=PTCD3/NM_017952.5/1;CC=c.240+299A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:129:14.81:1.89:12.92:1.00:1.00:1.00:40:67.8:0:0:133:17:7:NM_017952.5(PTCD3) c.240+299A>G,NM_017952.5(PTCD3) c.240+299A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 86343476 rs4832022 C A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3223,A/0.6777;PC=0.018;Gene=PTCD3/NM_017952.5/1;CC=c.241-177C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C:7:7:0:0:3,4:93,137:8.65,0.00:8.65,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:68.7,2.8:0,0:0,0:46,61:104,89:31,4:NM_017952.5(PTCD3) c.241-177C>A,-:0.68,-:NOT_FOUND,- 2 86343722 . G . . NT END=86344177;NT GT ./. 2 86344095 rs3764949 G T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6689,T/0.3311;Gene=PTCD3/NM_017952.5/1;CC=c.310-83G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:19:18:0:0:10,9:285,235:0.00,22.05:0.00,18.50:0.00,3.55:0.00,1.00:0.00,1.00:0.00,0.65:60,60:22.2,65.7:0,0:0,0:61,76:89,75:11,40:-,NM_017952.5(PTCD3) c.310-83G>T:-,0.33:-,NOT_FOUND 2 86344283 . G . . NT END=86346043;NT GT ./. 2 86344367 rs2059353 T C 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.107,C/0.893;Gene=PTCD3/NM_017952.5/1;CC=c.414+85T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:415:47.69:0.00:47.69:1.00:0.00:1.00:60:42.2:0:0:113:38:22:NM_017952.5(PTCD3) c.414+85T>C,NM_017952.5(PTCD3) c.414+85T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 86346168 . G . . NT END=86348601;NT GT ./. 2 86346180 rs2303339 G A 73 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.9093,A/0.09065;Gene=PTCD3/NM_017952.5/1;CC=c.538+13G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:11:0:0:22,16:740,490:73.28,0.00:17.95,0.00:55.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,2.7:0,0:0,0:96,92:54,59:28,24:NM_017952.5(PTCD3) c.538+13G>A,-:0.1,-:0.079117,- 2 86346308 rs6715623 G A 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1186,A/0.8814;Gene=PTCD3/NM_017952.5/1;CC=c.538+141G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:363:41.55:0.00:41.55:1.00:0.00:1.00:60:44.1:0:0:110:40:20:NM_017952.5(PTCD3) c.538+141G>A,NM_017952.5(PTCD3) c.538+141G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 2 86348718 . G . . NT END=86350823;NT GT ./. 2 86350886 . G . . NT END=86352117;NT GT ./. 2 86352206 . G . . NT END=86352577;NT GT ./. 2 86352639 . G . . NT END=86352917;NT GT ./. 2 86352825 rs6740228 C T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3219,T/0.6781;Gene=PTCD3/NM_017952.5/1;CC=c.866-93C>T;VC=Intron;DM=PTCD3/PPR_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,T:10:7:0:0:7,3:240,90:0.00,7.78:0.00,8.24:0.00,-0.47:0.00,0.95:0.00,0.89:0.00,0.69:60,60:0.0,109.0:0,0:0,0:69,31:81,119:8,5:-,NM_017952.5(PTCD3) c.866-93C>T:-,0.69:-,NOT_FOUND 2 86353004 . G . . NT END=86354283;NT GT ./. 2 86353150 rs3731820 G C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3221,C/0.6779;Gene=PTCD3/NM_017952.5/1;CC=c.951+147G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,G:7:1:0:0:4,3:122,97:12.03,0.00:3.63,0.00:8.40,0.00:0.90,0.00:0.71,0.00:0.99,0.00:60,60:33.2,4.3:0,0:0,0:79,104:71,47:11,8:NM_017952.5(PTCD3) c.951+147G>C,-:0.68,-:NOT_FOUND,- 2 86353954 rs2018547 T C 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2782,C/0.7218;Gene=PTCD3/NM_017952.5/1;CC=c.952-330T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:C,T:6:5:0:0:4,2:133,42:13.58,0.00:9.68,0.00:3.90,0.00:0.93,0.00:0.99,0.00:0.78,0.00:60,60:39.8,36.5:0,0:0,0:51,61:100,88:36,55:NM_017952.5(PTCD3) c.952-330T>C,-:0.69,-:NOT_FOUND,- 2 86354429 . G . . NT END=86355063;NT GT ./. 2 86355115 . G . . NT END=86357770;NT GT ./. 2 86357865 . G . . NT END=86358200;NT GT ./. 2 86357960 rs573025956 AT A 13 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AT/0.602,A/0.398;DB;DBA=NA;PAF=AT/0.602,A/0.398;NP=86;PC=0.012;Gene=PTCD3/NM_017952.5/1;CC=c.1237+115delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:AT,T,I,A:8:3:1:5:2,1,1,4:61,10,33,165:0.00,0.49,2.72,13.09:0.00,-0.05,-0.05,6.29:0.00,0.54,2.77,6.79:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.96:60,60,60,60:9.5,48.0,0.0,38.5:0,0,0,1:0,0,0,0:125,54,106,42:25,97,45,109:22,0,0,31:-,NM_017952.5(PTCD3) c.1237+101delT:-,NOT_FOUND:-,NOT_FOUND 2 86358230 . G . . NT END=86359440;NT GT ./. 2 86359405 rs1559515 G T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3219,T/0.6781;Gene=PTCD3/NM_017952.5/1;CC=c.1267-36G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:G,T:11:10:0:0:7,4:201,126:0.00,11.39:0.00,8.25:0.00,3.14:0.00,0.82:0.00,0.98:0.00,0.84:60,60:10.6,33.5:0,0:0,0:41,48:104,102:25,37:-,NM_017952.5(PTCD3) c.1267-36G>T:-,0.69:-,0.716977 2 86359548 . G . . NT END=86360300;NT GT ./. 2 86360380 . G . . NT END=86360468;NT GT ./. 2 86360560 . G . . NT END=86361414;NT GT ./. 2 86360573 rs2241437 T G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.9389,G/0.0611;Gene=PTCD3/NM_017952.5/1;CC=c.1543+14T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:17:9:0:0:8,9:268,300:25.51,0.00:7.78,0.00:17.73,0.00:0.99,0.00:0.99,0.00:1.00,0.00:60,60:42.1,0.0:0,0:0,0:107,88:44,63:16,33:NM_017952.5(PTCD3) c.1543+14T>G,-:0.07,-:0.03014,- 2 86361501 . G . . NT END=86361961;NT GT ./. 2 86362111 . G . . NT END=86363643;NT GT ./. 2 86362204 rs7606421 C T 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.3199,T/0.6801;Gene=PTCD3/NM_017952.5/1;CC=c.1778+94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:24:2:0:0:1,12,11:9,362,349:0.04,0.00,33.24:-0.01,0.00,1.54:0.05,0.00,31.70:0.00,0.00,1.00:0.00,0.00,0.76:0.00,0.00,1.00:60,60,60:85.0,6.2,39.8:0,0,0:0,0,0:131,101,57:20,50,92:0,28,39:-,NM_017952.5(PTCD3) c.1778+94C>T:-,0.69:-,NOT_FOUND 2 86363686 . G . . NT END=86364104;NT GT ./. 2 86363855 rs7558040 G C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1254,C/0.8746,T/.;Gene=PTCD3/NM_017952.5/1;CC=c.1820+170G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,G:6:3:0:0:5,1:169,35:18.11,0.00:10.99,0.00:7.12,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:33.8,11.0:0,0:0,0:88,100:63,51:30,0:NM_017952.5(PTCD3) c.1820+170G>C,-:0.88,-:NOT_FOUND,- 2 86364264 . G . . NT END=86364591;NT GT ./. 2 86364683 . A . . NT END=86371390;NT GT ./. 2 86364706 rs56274257 TG T 247 nt VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=TG/0.1094,T/0.8906;DB;DBA=NA;PAF=TG/0.1094,T/0.8906;DB;DBA=NA;PAF=TG/0.1094,T/0.8906;NP=3392;Gene=PTCD3/NM_017952.5/1;CC=c.*27delG;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:TG,T:74:36:0:71:3,71:95,2183:0.00,246.64:0.00,79.52:0.00,167.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,10.4:0,0:0,0:150,84:1,63:0,29:NM_017952.5(PTCD3) c.*25G[2],NM_017952.5(PTCD3) c.*25G[2]:0.89,0.89:0.876358,0.876358 2 86372005 . C . . NT END=86373190;NT GT ./. 2 86372045 rs72839332 A G 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.9946,G/0.005391;Gene=IMMT/NM_001100169.1/1;CC=c.1661-41T>C;VC=Intron;Gene=IMMT/NM_001100170.1/0;CC=c.1631-41T>C;VC=Intron;Gene=IMMT/NM_006839.2/0;CC=c.1664-41T>C;VC=Intron;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:28:0:0:37,30:1184,931:0.00,87.39:0.00,21.92:0.00,65.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,39.6:0,0:0,0:92,96:59,29:31,28:-,NM_006839.2(IMMT) c.1664-41T>C:-,0.01:-,0.009765 2 86373321 . C . . NT END=86374824;NT GT ./. 2 86374957 . C . . NT END=86378419;NT GT ./. 2 86378644 . C . . NT END=86380682;NT GT ./. 2 86380427 rs59893283 T TAC 16 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.007;Gene=IMMT/NM_001100169.1/1;CC=c.1174+255_1174+256insGT;VC=Intron;Gene=IMMT/NM_001100170.1/0;CC=c.1144+255_1144+256insGT;VC=Intron;Gene=IMMT/NM_006839.2/0;CC=c.1177+255_1177+256insGT;VC=Intron;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:T,TAC:6:6:7:0:1,5:32,191:0.00,16.44:0.00,8.61:0.00,7.83:0.00,0.97:0.00,1.00:0.00,1.00:60,60:97.0,19.6:0,2:0,0:119,74:23,76:0,19:-,NM_006839.2(IMMT) c.1177+255_1177+256insGT:-,NOT_FOUND:-,NOT_FOUND 2 86380698 . C . . NT END=86385714;NT GT ./. 2 86385728 rs1131071 C T 95 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.8093,T/0.1907;PC=0.989;Gene=IMMT/NM_001100169.1/1;CC=c.1146G>A;ProtCh=p.G382=;VC=Silent;Gene=IMMT/NM_001100170.1/0;CC=c.1116G>A;ProtCh=p.G372=;VC=Silent;Gene=IMMT/NM_006839.2/0;CC=c.1149G>A;ProtCh=p.G383=;VC=Silent;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:61:48:0:0:1,28,32:12,930,983:0.03,0.00,95.50:-0.12,0.00,61.13:0.16,0.00,34.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:43.0,1.9,42.2:0,0,0:0,0,0:8,56,68:143,83,74:0,29,32:-,NM_006839.2(IMMT) c.1149G>A (p.(=)):-,0.19:-,0.084626 2 86385845 . C . . NT END=86386658;NT GT ./. 2 86385886 rs6739460 A G 191 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.04533,G/0.9547;Gene=IMMT/NM_001100169.1/1;CC=c.1030-42T>C;VC=Intron;Gene=IMMT/NM_001100170.1/0;CC=c.1000-42T>C;VC=Intron;Gene=IMMT/NM_006839.2/0;CC=c.1033-42T>C;VC=Intron;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:51:17:0:0:51:1666:190.83:43.45:147.38:1.00:1.00:1.00:60:37.9:0:0:93:48:29:NM_006839.2(IMMT) c.1033-42T>C,NM_006839.2(IMMT) c.1033-42T>C:0.95,0.95:0.955522,0.955522 2 86386795 . C . . NT END=86389098;NT GT ./. 2 86387060 rs3835960 CT C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CT/0.8269,C/0.1731;NP=15;PC=0.002;Gene=IMMT/NM_001100169.1/1;CC=c.894-267delA;VC=Intron;Gene=IMMT/NM_001100170.1/0;CC=c.864-267delA;VC=Intron;Gene=IMMT/NM_006839.2/0;CC=c.897-267delA;VC=Intron;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:CT,C:4:0:0:3:1,3:23,92:0.00,9.66:0.00,0.00:0.00,9.66:0.00,0.85:0.00,0.00:0.00,0.85:60,60:13.0,0.0:0,0:0,0:54,87:96,63:0,39:-,NM_006839.2(IMMT) c.897-267delA:-,NOT_FOUND:-,NOT_FOUND 2 86388889 rs11685551 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6707,A/0.3293;PC=0.089;Gene=IMMT/NM_001100169.1/1;CC=c.893+210C>T;VC=Intron;Gene=IMMT/NM_001100170.1/0;CC=c.863+210C>T;VC=Intron;Gene=IMMT/NM_006839.2/0;CC=c.896+210C>T;VC=Intron;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,G:6:6:0:0:4,2:137,45:13.96,0.00:12.01,0.00:1.95,0.00:0.93,0.00:0.93,0.00:0.78,0.00:60,60:40.8,30.0:0,0:0,0:29,47:119,103:13,15:NM_006839.2(IMMT) c.896+210C>T,-:0.33,-:NOT_FOUND,- 2 86389203 . C . . NT END=86393630;NT GT ./. 2 86393768 . C . . NT END=86397871;NT GT ./. 2 86393770 . TA T 19 rn VT=DEL;SST=Single;DP=58;NP=22;Gene=IMMT/NM_001100169.1/1;CC=c.653-4delT;VC=Intron;Gene=IMMT/NM_001100170.1/0;CC=c.623-4delT;VC=Intron;Gene=IMMT/NM_006839.2/0;CC=c.656-4delT;VC=Intron;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:TA,I,T:58:32:2:8:48,2,8:1414,64,251:0.00,3.71,18.96:0.00,2.16,9.58:0.00,1.55,9.39:0.00,0.00,0.95:0.00,0.00,0.97:0.00,0.00,0.99:60,60,60:16.2,0.0,7.6:0,0,0:0,0,0:105,101,111:41,49,38:20,25,17:-,NM_006839.2(IMMT) c.656-4delT:-,NOT_FOUND:-,0.033717 2 86397968 . C . . NT END=86398330;NT GT ./. 2 86398469 . C . . NT END=86400772;NT GT ./. 2 86400824 rs1050301 G A 52 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6707,A/0.3293,C/.;PC=1.000;Gene=IMMT/NM_001100169.1/1;CC=c.370C>T;ProtCh=p.P124S;VC=Missense;Gene=IMMT/NM_001100170.1/0;CC=c.370C>T;ProtCh=p.P124S;VC=Missense;Gene=IMMT/NM_006839.2/0;CC=c.370C>T;ProtCh=p.P124S;VC=Missense;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:27:0:0:17,17:544,547:52.26,0.00:33.55,0.00:18.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.8,9.6:0,0:0,0:78,58:71,88:21,25:NM_006839.2(IMMT) c.370C>T (p.Pro124Ser),-:0.33,-:0.260836,- 2 86400885 . C . . NT END=86406555;NT GT ./. 2 86406556 rs17027011 C T 98 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.8916,T/0.1084;PC=1.000;Gene=IMMT/NM_001100169.1/1;CC=c.309G>A;ProtCh=p.S103=;VC=Silent;Gene=IMMT/NM_001100170.1/0;CC=c.309G>A;ProtCh=p.S103=;VC=Silent;Gene=IMMT/NM_006839.2/0;CC=c.309G>A;ProtCh=p.S103=;VC=Silent;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin;DM=IMMT/Mitofilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:42:0:0:19,28:557,979:0.00,97.50:0.00,80.84:0.00,16.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.1,39.2:0,0:0,0:55,45:87,94:33,24:-,NM_006839.2(IMMT) c.309G>A (p.(=)):-,0.11:-,0.075414 2 86406746 . C . . NT END=86408421;NT GT ./. 2 86408496 . C . . NT END=86422460;NT GT ./. 2 86422506 . C . . NT END=86426613;NT GT ./. 2 86426657 . G . . NT END=86433228;NT GT ./. 2 86433419 . G . . NT END=86434305;NT GT ./. 2 86434451 . G . . NT END=86437602;NT GT ./. 2 86434569 rs9309634 T C 87 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=3269;PC=0.003;Gene=MRPL35/NM_016622.3/0;CC=c.378+119T>C;VC=Intron;Gene=MRPL35/NM_145644.2/1;CC=c.378+119T>C;VC=Intron;DM=MRPL35/Ribosomal_L35p;DM=MRPL35/Ribosomal_L35p GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:1:0:0:24:755:86.88:0.98:85.90:1.00:1.00:1.00:60:43.2:0:0:120:30:18:NM_016622.3(MRPL35) c.378+119T>C,NM_016622.3(MRPL35) c.378+119T>C:1,1:NOT_FOUND,NOT_FOUND 2 86437551 rs7565645 T G 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.237,G/0.763;PC=0.704;Gene=MRPL35/NM_016622.3/0;CC=c.379-52T>G;VC=Intron;Gene=MRPL35/NM_145644.2/1;CC=c.379-52T>G;VC=Intron;DM=MRPL35/Ribosomal_L35p;DM=MRPL35/Ribosomal_L35p GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:24:0:0:28:889:102.25:77.55:24.70:1.00:1.00:1.00:60:31.8:0:0:49:99:20:NM_016622.3(MRPL35) c.379-52T>G,NM_016622.3(MRPL35) c.379-52T>G:0.8,0.8:0.768842,0.768842 2 86437898 rs13353 C T 293 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.1701,T/0.8299;Gene=MRPL35/NM_016622.3/0;CC=c.*107C>T;VC=3UTR;Gene=MRPL35/NM_145644.2/1;CC=c.512+162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:77:44:0:0:77:2564:293.08:130.77:162.31:1.00:1.00:1.00:60:40.2:0:0:73:78:39:NM_016622.3(MRPL35) c.*107C>T,NM_016622.3(MRPL35) c.*107C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 2 86438146 rs2241432 A G 122 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.3528,G/0.6472;Gene=MRPL35/NM_016622.3/0;CC=c.*355A>G;VC=3UTR;Gene=MRPL35/NM_145644.2/1;CC=c.512+410A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:67:0:0:47,44:1597,1289:0.00,122.37:0.00,65.11:0.00,57.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,38.4:0,0:0,0:54,38:92,112:31,24:-,NM_016622.3(MRPL35) c.*355A>G:-,0.64:-,NOT_FOUND 2 86438289 . t . . NT END=86438524;NT GT ./. 2 86438600 rs17438451 T C 182 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.6044,C/0.3956,G/.;PC=0.002;Gene=MRPL35/NM_016622.3/0;CC=c.*809T>C;VC=3UTR;Gene=MRPL35/NM_145644.2/1;CC=c.512+864T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:103:75:0:0:57,46:1860,1510:182.45,0.00:117.60,0.00:64.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,5.2:0,0:0,0:80,66:70,80:35,27:NM_016622.3(MRPL35) c.*809T>C,-:0.41,-:NOT_FOUND,- 2 86440436 rs3087642 T C 71 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.6286,C/0.3714;Gene=MRPL35/NM_016622.3/0;CC=c.*2645T>C;VC=3UTR;Gene=MRPL35/NM_145644.2/1;CC=c.*887T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:44:0:0:25,37:769,1185:70.65,0.00:45.74,0.00:24.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,17.4:0,0:0,0:78,58:73,86:30,28:NM_016622.3(MRPL35) c.*2645T>C,-:0.39,-:NOT_FOUND,- 2 86440478 . G . . NT END=86440750;NT GT ./. 2 86440718 rs11944 T C 117 nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.6288,C/0.3712 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:52:0:0:37,36:1213,1158:116.91,0.00:69.20,0.00:47.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,10.6:0,0:0,0:66,71:83,77:30,30:chr2 g.86440717T>C (intergenic),-:0.39,-:NOT_FOUND,- 2 86440773 . A . . NT END=86444161;NT GT ./. 2 86440963 rs4832028 G A 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1164,A/0.8836;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:306:35.78:0.00:35.78:1.00:0.00:1.00:60:34.4:0:0:131:17:16:chr2 g.86440962G>A (intergenic),chr2 g.86440962G>A (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 2 86444234 . C . . NT END=86447092;NT GT ./. 2 86446849 rs7592211 A G 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1895,G/0.8105;Gene=REEP1/NM_001164731.1/0;CC=c.515-2616T>C;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.361-2616T>C;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.596-2616T>C;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.617-2616T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:253:29.58:29.58:0.00:1.00:1.00:0.00:60:43.6:0:0:80:71:42:NM_001164730.1(REEP1) c.617-2616T>C,NM_001164730.1(REEP1) c.617-2616T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 86447245 . C . . NT END=86454485;NT GT ./. 2 86447273 rs7583021 T G 154 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.1106,G/0.8894;PC=1.000;Gene=REEP1/NM_001164731.1/0;CC=c.515-3040A>C;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.361-3040A>C;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.596-3040A>C;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.617-3040A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C,G:42:14:0:0:1,41:6,1345:0.08,153.62:0.00,35.80:0.08,117.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:127.0,51.4:0,0:0,0:7,112:144,36:0,21:NM_001164730.1(REEP1) c.617-3040A>C,NM_001164730.1(REEP1) c.617-3040A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 86447376 rs2367205 C G 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.1226,G/0.8774;Gene=REEP1/NM_001164731.1/0;CC=c.515-3143G>C;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.361-3143G>C;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.596-3143G>C;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.617-3143G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:0:0:0:14:414:48.04:0.00:48.04:1.00:0.00:1.00:60:57.4:0:0:109:42:32:NM_001164730.1(REEP1) c.617-3143G>C,NM_001164730.1(REEP1) c.617-3143G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 86454271 rs1559511 C T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.633,T/0.367;Gene=REEP1/NM_001164731.1/0;CC=c.514+5477G>A;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.360+5477G>A;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.595+5477G>A;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.616+5477G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,T:8:8:0:0:4,4:115,115:0.00,10.98:0.00,10.98:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,37.2:0,0:0,0:60,30:90,119:22,9:-,NM_001164730.1(REEP1) c.616+5477G>A:-,0.38:-,NOT_FOUND 2 86454522 . C . . NT END=86459747;NT GT ./. 2 86454597 rs1559512 C T 61 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.3233,T/0.6767;PC=0.282;Gene=REEP1/NM_001164731.1/0;CC=c.514+5151G>A;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.360+5151G>A;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.595+5151G>A;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.616+5151G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:15:0:0:19,20:552,635:0.00,61.31:0.00,19.38:0.00,41.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,44.1:0,0:0,0:117,94:33,56:8,27:-,NM_001164730.1(REEP1) c.616+5151G>A:-,0.7:-,NOT_FOUND 2 86454704 rs11127017 T C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3235,C/0.6765;Gene=REEP1/NM_001164731.1/0;CC=c.514+5044A>G;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.360+5044A>G;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.595+5044A>G;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.616+5044A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:C,T:6:0:0:0:3,3:75,81:7.12,0.00:0.00,0.00:7.12,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:62.3,54.0:0,0:0,0:43,110:108,41:33,8:NM_001164730.1(REEP1) c.616+5044A>G,-:0.7,-:NOT_FOUND,- 2 86459926 . C . . NT END=86479079;NT GT ./. 2 86478902 rs10189492 G A 8 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7216,A/0.2784;Gene=REEP1/NM_001164731.1/0;CC=c.336+178C>T;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.182+12186C>T;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.417+178C>T;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.438+178C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:6:6:0:0:3,3:86,100:8.22,0.00:8.22,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:28.7,53.7:0,0:0,0:7,35:143,116:3,10:NM_001164730.1(REEP1) c.438+178C>T,-:0.28,-:NOT_FOUND,- 2 86478980 rs4832031 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5661,C/0.4339;Gene=REEP1/NM_001164731.1/0;CC=c.336+100A>G;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.182+12108A>G;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.417+100A>G;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.438+100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:8,6:263,210:25.96,0.00:25.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:66.6,32.2:0,0:0,0:30,64:120,86:12,22:NM_001164730.1(REEP1) c.438+100A>G,-:0.47,-:NOT_FOUND,- 2 86479035 rs12988844 A G 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.5661,G/0.4339;Gene=REEP1/NM_001164731.1/0;CC=c.336+45T>C;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.182+12053T>C;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.417+45T>C;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.438+45T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:32:0:0:15,20:508,681:0.00,67.26:0.00,59.70:0.00,7.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,45.4:0,0:0,0:42,35:104,114:31,28:-,NM_001164730.1(REEP1) c.438+45T>C:-,0.47:-,0.373289 2 86479194 . C . . NT END=86481816;NT GT ./. 2 86479287 rs17438687 G T 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5661,T/0.4339;PC=0.001;Gene=REEP1/NM_001164731.1/0;CC=c.223-94C>A;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.182+11801C>A;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.304-94C>A;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.325-94C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:G,T:14:0:0:0:5,9:164,288:0.00,29.13:0.00,0.00:0.00,29.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.4,41.7:0,0:0,0:114,89:37,62:8,27:-,NM_001164730.1(REEP1) c.325-94C>A:-,0.47:-,NOT_FOUND 2 86481835 rs2276625 C T 71 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=in-clinvar;PAF=C/0.5713,T/0.4287;Gene=REEP1/NM_001164731.1/0;CC=c.204G>A;ProtCh=p.T68=;VC=Silent;Gene=REEP1/NM_001164732.1/0;CC=c.182+9253G>A;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.285G>A;ProtCh=p.T95=;VC=Silent;Gene=REEP1/NM_001164730.1/1;CC=c.306G>A;ProtCh=p.T102=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:43:0:0:25,23:818,746:0.00,71.20:0.00,41.11:0.00,30.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,33.0:0,0:0,0:47,54:100,91:20,23:-,NM_001164730.1(REEP1) c.306G>A (p.(=)):-,0.45:-,0.371828 2 86481938 . C . . NT END=86491087;NT GT ./. 2 86491165 . C . . NT END=86509292;NT GT ./. 2 86491245 rs1863056 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6178,T/0.3822;Gene=REEP1/NM_001164731.1/0;CC=c.25-81G>A;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.106-81G>A;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.106-81G>A;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.127-81G>A;VC=Intron;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:6:0:0:10,8:307,264:0.00,24.85:0.00,7.86:0.00,16.99:0.00,0.99:0.00,0.96:0.00,1.00:60,60:14.7,33.0:0,0:0,0:120,107:30,42:19,29:-,NM_001164730.1(REEP1) c.127-81G>A:-,0.42:-,NOT_FOUND 2 86509267 rs1863058 G A 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.5946,A/0.4054;Gene=REEP1/NM_001164731.1/0;CC=c.25-18103C>T;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.105+26C>T;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.105+26C>T;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.126+26C>T;VC=Intron;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:26:0:0:17,13:522,426:51.35,0.00:33.53,0.00:17.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.5,3.5:0,0:0,0:39,40:101,109:26,17:NM_001164730.1(REEP1) c.126+26C>T,-:0.44,-:0.353145,- 2 86509366 . C . . NT END=86524791;NT GT ./. 2 86509388 rs1863059 T G 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4161,A/.,G/0.5839;PC=0.632;Gene=REEP1/NM_001164731.1/0;CC=c.25-18224A>C;VC=Intron;Gene=REEP1/NM_001164732.1/0;CC=c.33-23A>C;VC=Intron;Gene=REEP1/NM_022912.2/0;CC=c.33-23A>C;VC=Intron;Gene=REEP1/NM_001164730.1/1;CC=c.54-23A>C;VC=Intron;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22;DM=REEP1/TB2_DP1_HVA22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:13:0:0:17,8:538,246:55.08,0.00:16.51,0.00:38.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.2,12.0:0,0:0,0:115,137:28,14:20,6:NM_001164730.1(REEP1) c.54-23A>C,-:0.58,-:0.518222,- 2 86524886 . G . . NT END=86564601;NT GT ./. 2 86564778 . C . . NT END=86565146;NT GT ./. 2 86565200 . A . . NT END=86669170;NT GT ./. 2 86669357 . G . . NT END=86676929;NT GT ./. 2 86677086 . G . . NT END=86678225;NT GT ./. 2 86678124 rs57145635 A G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9395,G/0.0605;PC=0.206;Gene=KDM3A/NM_018433.5/0;CC=c.343-102A>G;VC=Intron;Gene=KDM3A/NM_001146688.1/1;CC=c.343-102A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:11:11:0:0:8,3:262,106:0.00,9.23:0.00,9.23:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:7.5,35.3:0,0:0,0:58,103:92,48:31,7:-,NM_018433.5(KDM3A) c.343-102A>G:-,0.05:-,NOT_FOUND 2 86678337 . G . . NT END=86682207;NT GT ./. 2 86682311 . G . . NT END=86683564;NT GT ./. 2 86683539 rs11431031 A AT 40 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=5;Gene=KDM3A/NM_018433.5/0;CC=c.557-4_557-3insT;VC=Intron;Gene=KDM3A/NM_001146688.1/1;CC=c.557-4_557-3insT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,AT,D:37:31:17:8:18,1,14,4:508,23,522,215:0.00,0.99,39.79,9.63:0.00,-0.13,23.38,5.06:0.00,1.11,16.41,4.57:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:54.8,129.0,74.1,47.2:1,0,3,3:0,0,0,0:82,1,63,79:67,150,77,54:45,0,34,30:-,NM_018433.5(KDM3A) c.557-26_557-25insT:-,NOT_FOUND:-,NOT_FOUND 2 86683642 rs2030259 A G 82 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.1951,G/0.8049;PC=1.000;Gene=KDM3A/NM_018433.5/0;CC=c.634A>G;ProtCh=p.I212V;VC=Missense;Gene=KDM3A/NM_001146688.1/1;CC=c.634A>G;ProtCh=p.I212V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:24:0:0:31,26:934,870:0.00,82.37:0.00,15.39:0.00,66.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.6,44.4:0,0:0,0:61,82:78,68:35,19:-,NM_018433.5(KDM3A) c.634A>G (p.Ile212Val):-,0.85:-,0.801784 2 86683690 . G . . NT END=86683927;NT GT ./. 2 86684001 . G . . NT END=86684105;NT GT ./. 2 86684195 . G . . NT END=86691175;NT GT ./. 2 86691250 rs12714187 G A 77 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.1951,A/0.8049;PC=0.996;Gene=KDM3A/NM_018433.5/0;CC=c.918G>A;ProtCh=p.A306=;VC=Silent;Gene=KDM3A/NM_001146688.1/1;CC=c.918G>A;ProtCh=p.A306=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:28:0:0:24,21:788,668:76.73,0.00:26.36,0.00:50.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,7.0:0,0:0,0:71,79:78,66:45,33:NM_018433.5(KDM3A) c.918G>A (p.(=)),-:0.85,-:0.80163,- 2 86691340 . G . . NT END=86693494;NT GT ./. 2 86694007 . G . . NT END=86697326;NT GT ./. 2 86697532 . G . . NT END=86701898;NT GT ./. 2 86701824 rs57948637 T TTGTG 22 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5503,TTG/.,TTGTG/.,TTGTGTG/.,TTTG/0.4497;DB;DBA=NA;PAF=NA;NP=119;NP=21;NP=22;NP=80;Gene=KDM3A/NM_018433.5/0;CC=c.1725-34_1725-33insGTGT;VC=Intron;Gene=KDM3A/NM_001146688.1/1;CC=c.1725-34_1725-33insGTGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTGTG:17:21:14:0:9,8:214,420:0.00,21.71:0.00,23.46:0.00,-1.75:0.00,0.99:0.00,1.00:0.00,0.82:60,60:15.9,43.9:0,6:0,0:83,28:68,123:52,9:-,NM_018433.5(KDM3A) c.1725-75_1725-74insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 86702114 . G . . NT END=86704999;NT GT ./. 2 86705153 . G . . NT END=86705292;NT GT ./. 2 86705389 . G . . NT END=86705730;NT GT ./. 2 86705859 . G . . NT END=86707289;NT GT ./. 2 86707486 . G . . NT END=86709052;NT GT ./. 2 86707504 rs4832290 T C 121 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.2049,A/.,C/0.7951;Gene=KDM3A/NM_018433.5/0;CC=c.2512+19T>C;VC=Intron;Gene=KDM3A/NM_001146688.1/1;CC=c.2512+19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:19:0:0:39,17:1177,566:121.23,0.00:32.23,0.00:89.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,2.2:0,0:0,0:101,98:35,53:33,35:NM_018433.5(KDM3A) c.2512+19T>C,-:0.84,-:0.796555,- 2 86709226 . G . . NT END=86709580;NT GT ./. 2 86709818 . G . . NT END=86711109;NT GT ./. 2 86711086 rs115578396 A G 79 nt VT=SNV;PN=T;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.99,G/0.009984;PC=0.537;Gene=KDM3A/NM_018433.5/0;CC=c.2923-24A>G;VC=Intron;Gene=KDM3A/NM_001146688.1/1;CC=c.2923-24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:40:0:0:23,25:751,819:0.00,79.37:0.00,61.44:0.00,17.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,40.0:0,0:0,0:29,36:118,100:18,23:-,NM_018433.5(KDM3A) c.2923-24A>G:-,0.01:-,0.023451 2 86711282 . G . . NT END=86712064;NT GT ./. 2 86712153 . G . . NT END=86712851;NT GT ./. 2 86712983 . G . . NT END=86716440;NT GT ./. 2 86713156 rs5832684 C CA 29 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2091,CA/0.7909;NP=829;PC=0.755;Gene=KDM3A/NM_018433.5/0;CC=c.3313+174_3313+175insA;VC=Intron;Gene=KDM3A/NM_001146688.1/1;CC=c.3313+174_3313+175insA;VC=Intron;DM=KDM3A/JmjC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,CA:13:0:9:0:4,9:142,286:0.00,29.40:0.00,0.00:0.00,29.40:0.00,1.00:0.00,0.00:0.00,1.00:60,70:22.8,10.3:0,0:0,0:92,96:52,55:28,7:-,NM_018433.5(KDM3A) c.3313+174_3313+175insA:-,NOT_FOUND:-,NOT_FOUND 2 86716561 . G . . NT END=86716642;NT GT ./. 2 86716783 . G . . NT END=86718003;NT GT ./. 2 86718181 . G . . NT END=86718263;NT GT ./. 2 86718399 . G . . NT END=86719161;NT GT ./. 2 86719243 . T . . NT END=86732926;NT GT ./. 2 86733073 . C . . NT END=86734601;NT GT ./. 2 86734717 . C . . NT END=86737480;NT GT ./. 2 86737603 . C . . NT END=86756340;NT GT ./. 2 86737649 rs966477 G A 119 nt VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.3287,A/0.6713;Gene=CHMP3/NM_001005753.2/0;CC=c.89-47C>T;VC=Intron;Gene=CHMP3/NM_001193517.1/1;CC=c.217-97C>T;VC=Intron;Gene=CHMP3/NM_016079.3/0;CC=c.287-47C>T;VC=Intron;Gene=CHMP3/NR_036454.1/0;VC=NonCoding;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.374-47C>T;VC=Intron;DM=CHMP3/Snf7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:24:0:0:39,42:1248,1411:119.01,0.00:31.85,0.00:87.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.6,3.5:0,0:0,0:105,69:40,82:34,35:NM_001198954.1(RNF103-CHMP3) c.374-47C>T,-:0.71,-:0.593803,- 2 86756209 rs1036940 C G 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.1905,G/0.8095;Gene=CHMP3/NM_001005753.2/0;CC=c.88+132G>C;VC=Intron;Gene=CHMP3/NM_001193517.1/1;CC=c.216+202G>C;VC=Intron;Gene=CHMP3/NM_016079.3/0;CC=c.286+132G>C;VC=Intron;Gene=CHMP3/NR_036454.1/0;VC=NonCoding;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.373+132G>C;VC=Intron;DM=CHMP3/Snf7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:49:49:0:0:1,27,21:11,899,698:-0.01,0.00,65.53:-0.01,0.00,65.53:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:24.0,2.3,38.7:0,0,0:0,0,0:147,35,32:4,114,118:0,21,11:-,NM_001198954.1(RNF103-CHMP3) c.373+132G>C:-,0.85:-,NOT_FOUND 2 86756521 . C . . NT END=86769374;NT GT ./. 2 86769436 . C . . NT END=86790426;NT GT ./. 2 86772110 rs147974092 A G 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.022;Gene=CHMP3/NM_001005753.2/0;CC=c.-92-15590T>C;VC=Intron;Gene=CHMP3/NM_001193517.1/1;CC=c.46-2675T>C;VC=Intron;Gene=CHMP3/NM_016079.3/0;CC=c.46-2675T>C;VC=Intron;Gene=CHMP3/NR_036454.1/0;VC=NonCoding;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.133-2675T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:45:32:0:2:27,2,16:722,21,394:0.00,0.23,34.65:0.00,0.49,14.81:0.00,-0.25,19.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,52,60:39.2,120.0,65.8:0,0,0:0,0,0:60,117,98:66,34,49:25,15,12:-,NM_001198954.1(RNF103-CHMP3) c.133-2675T>C:-,0.46:-,NOT_FOUND 2 86776380 rs150566639 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.9389,T/0.0611;Gene=CHMP3/NM_001005753.2/0;CC=c.-93+14047G>A;VC=Intron;Gene=CHMP3/NM_001193517.1/1;CC=c.46-6945G>A;VC=Intron;Gene=CHMP3/NM_016079.3/0;CC=c.46-6945G>A;VC=Intron;Gene=CHMP3/NR_036454.1/0;VC=NonCoding;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.133-6945G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:39:24:0:0:1,24,1,13:14,677,14,368:0.18,0.00,0.18,32.58:-0.13,0.00,-0.13,9.21:0.31,0.00,0.31,23.37:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:59.0,32.3,27.0,72.6:0,0,0,0:0,0,0,0:90,68,6,124:27,76,145,23:0,31,0,22:-,NM_001198954.1(RNF103-CHMP3) c.133-6945G>A:-,0.08:-,NOT_FOUND 2 86790472 . G . . NT END=86830965;NT GT ./. 2 86832542 . C . . NT END=86839281;NT GT ./. 2 86839398 . C . . NT END=86841833;NT GT ./. 2 86841775 rs308907 G A 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2606,A/0.7394;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.132+5678C>T;VC=Intron;Gene=RNF103/NM_001198951.1/1;CC=c.355-2378C>T;VC=Intron;Gene=RNF103/NM_005667.3/0;CC=c.367-2378C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:A,G:16:16:0:0:5,11:161,379:14.17,0.00:14.33,0.00:-0.16,0.00:0.99,0.00:0.99,0.00:0.61,0.00:60,60:56.0,2.6:0,0:0,0:41,36:109,104:15,20:NM_001198954.1(RNF103-CHMP3) c.132+5678C>T,-:0.79,-:NOT_FOUND,- 2 86841879 rs218060 A C 82 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.2562,C/0.7438;PC=0.004;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.132+5574T>G;VC=Intron;Gene=RNF103/NM_001198951.1/1;CC=c.355-2482T>G;VC=Intron;Gene=RNF103/NM_005667.3/0;CC=c.367-2482T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:48:45:0:0:22,26:702,835:0.00,81.50:0.00,66.30:0.00,15.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,45.4:0,0:0,0:37,54:113,94:20,25:-,NM_001198954.1(RNF103-CHMP3) c.132+5574T>G:-,0.79:-,NOT_FOUND 2 86842174 rs4832045 G A 102 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.5675,A/0.4325;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.132+5279C>T;VC=Intron;Gene=RNF103/NM_001198951.1/1;CC=c.355-2777C>T;VC=Intron;Gene=RNF103/NM_005667.3/0;CC=c.367-2777C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:43:0:0:36,44:1086,1482:101.82,0.00:42.77,0.00:59.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,4.0:0,0:0,0:88,88:62,62:32,29:NM_001198954.1(RNF103-CHMP3) c.132+5279C>T,-:0.48,-:NOT_FOUND,- 2 86842381 . C . . NT END=86843539;NT GT ./. 2 86843488 rs308903 C T 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3756,T/0.6244;PC=0.004;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.132+3965G>A;VC=Intron;Gene=RNF103/NM_001198951.1/1;CC=c.354+3965G>A;VC=Intron;Gene=RNF103/NM_005667.3/0;CC=c.366+3965G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:20:16:0:0:11,1,8:358,12,266:0.00,0.26,24.79:0.00,0.32,16.76:0.00,-0.07,8.03:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:10.4,37.0,36.4:0,0,0:0,0,0:38,124,52:113,26,98:16,0,23:-,NM_001198954.1(RNF103-CHMP3) c.132+3965G>A:-,0.66:-,NOT_FOUND 2 86843758 rs308902 C G 138 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.3802,G/0.6198;PC=0.980;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.132+3695G>C;VC=Intron;Gene=RNF103/NM_001198951.1/1;CC=c.354+3695G>C;VC=Intron;Gene=RNF103/NM_005667.3/0;CC=c.366+3695G>C;VC=Intron;Gene=RNF103/NM_001198952.1/0;CC=c.*1376G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:78:55:0:0:35,43:1123,1403:0.00,137.53:0.00,71.90:0.00,65.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,36.4:0,0:0,0:76,75:74,65:44,40:-,NM_001198954.1(RNF103-CHMP3) c.132+3695G>C:-,0.66:-,NOT_FOUND 2 86844467 . a . . NT END=86844731;NT GT ./. 2 86844976 . G . . NT END=86847452;NT GT ./. 2 86847269 rs308900 T C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5667,C/0.4333;PC=0.571;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.132+184A>G;VC=Intron;Gene=RNF103/NM_001198951.1/1;CC=c.354+184A>G;VC=Intron;Gene=RNF103/NM_005667.3/0;CC=c.366+184A>G;VC=Intron;Gene=RNF103/NM_001198952.1/0;CC=c.366+184A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:12:12:0:0:6,6:204,196:19.65,0.00:19.65,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:34.0,6.0:0,0:0,0:61,39:89,111:37,29:NM_001198954.1(RNF103-CHMP3) c.132+184A>G,-:0.48,-:NOT_FOUND,- 2 86847585 . C . . NT END=86849783;NT GT ./. 2 86850022 rs396354 T C 215 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=T/0.2478,C/0.7522;PC=0.015;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.-8-2430A>G;VC=Intron;Gene=RNF103/NM_001198951.1/1;CC=c.48-72A>G;VC=Intron;Gene=RNF103/NM_005667.3/0;CC=c.-13A>G;VC=5UTR;Gene=RNF103/NM_001198952.1/0;CC=c.-13A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:156:114:0:0:69,87:2286,2627:215.08,0.00:119.39,0.00:95.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,12.0:0,0:0,0:39,69:110,82:23,40:NM_005667.3(RNF103) c.-13A>G,-:0.8,-:0.752774,- 2 86850986 . A . . NT END=86947790;NT GT ./. 2 86947783 rs76239019 C T 548 nt VT=SNV;PN=G;NN=C;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.1743,T/0.8257;PC=1.000;Gene=RNF103-CHMP3/NM_001198954.1/1;CC=c.-103+322G>A;VC=Intron;Gene=RMND5A/NM_022780.3/1;CC=c.-8C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:159:119:0:0:1,1,157:9,6,4759:0.00,0.02,548.26:0.00,0.02,313.07:0.00,-0.00,235.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,43,60:149.0,65.0,38.6:0,0,0:0,0,0:96,116,61:51,35,86:0,0,31:NM_022780.3(RMND5A) c.-8C>T,NM_022780.3(RMND5A) c.-8C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 86947933 . G . . NT END=86968049;NT GT ./. 2 86968193 . G . . NT END=86979018;NT GT ./. 2 86978895 rs4832311 G T 70 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2694,T/0.7306;Gene=RMND5A/NM_022780.3/1;CC=c.286-124G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:19:0:0:20:605:70.03:62.53:7.50:1.00:1.00:1.00:60:40.7:0:0:38:113:23:NM_022780.3(RMND5A) c.286-124G>T,NM_022780.3(RMND5A) c.286-124G>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 86979093 rs10186663 G A 239 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.3103,A/0.6897;PC=1.000;Gene=RMND5A/NM_022780.3/1;CC=c.360G>A;ProtCh=p.E120=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:A,C:63:41:0:0:62,1:2103,13:239.43,0.28:108.99,0.28:130.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,59.0:0,0:0,0:62,146:86,4:33,0:NM_022780.3(RMND5A) c.360G>A (p.(=)),NM_022780.3(RMND5A) c.360G>A (p.(=)):0.72,0.72:0.652776,0.652776 2 86979154 . G . . NT END=86980580;NT GT ./. 2 86979417 rs2887012 G A 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3103,A/0.6897;PC=0.001;Gene=RMND5A/NM_022780.3/1;CC=c.420+264G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:210:23.86:0.00:23.86:1.00:0.00:1.00:60:67.2:0:0:52:98:19:NM_022780.3(RMND5A) c.420+264G>A,NM_022780.3(RMND5A) c.420+264G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 86979493 rs7596943 A G 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.269,G/0.731;Gene=RMND5A/NM_022780.3/1;CC=c.420+340A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:151:17.46:0.00:17.46:1.00:0.00:1.00:60:67.6:0:0:111:39:12:NM_022780.3(RMND5A) c.420+340A>G,NM_022780.3(RMND5A) c.420+340A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 86980418 rs34283985 G A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9976,A/0.002396;NP=14;PC=0.001;Gene=RMND5A/NM_022780.3/1;CC=c.421-163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,G,D:13:13:0:1:3,9,1:101,259,27:8.60,0.00,1.75:8.60,0.00,1.75:0.00,0.00,0.00:0.58,0.00,0.00:0.58,0.00,0.00:0.00,0.00,0.00:60,60,60:33.7,0.8,15.0:0,0,0:0,0,0:42,109,47:108,42,104:0,38,0:NM_022780.3(RMND5A) c.421-163G>A,-:0.0046,-:NOT_FOUND,- 2 86980682 . G . . NT END=86992149;NT GT ./. 2 86992317 . G . . NT END=86992981;NT GT ./. 2 86992337 rs397787623 T TAA 175 nt VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2997,TAA/0.7003;DB;DBA=NA;PAF=T/0.2997,TAA/0.7003;NP=3068;Gene=RMND5A/NM_022780.3/1;CC=c.688+22_688+23insAA;VC=Intron;DM=RMND5A/CLTH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T,TAA:50:19:49:0:1,49:31,1539:0.00,175.09:0.00,40.34:0.00,134.75:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,12.0:0,0:0,0:145,96:2,48:0,26:NM_022780.3(RMND5A) c.688+21_688+22insAA,NM_022780.3(RMND5A) c.688+21_688+22insAA:0.73,0.73:NOT_FOUND,NOT_FOUND 2 86993148 . G . . NT END=86997145;NT GT ./. 2 86997249 . G . . NT END=86998680;NT GT ./. 2 86998659 rs71377101 CT C 111 idl,rn VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=427;PC=0.002;Gene=RMND5A/NM_022780.3/1;CC=c.958-6delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,G,C:46:45:0:41:11,1,34:333,10,1290:0.00,0.08,111.29:0.00,0.11,75.97:0.00,-0.03,35.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:26.6,38.0,18.4:0,0,7:0,0,0:90,106,63:48,16,83:41,0,26:-,NM_022780.3(RMND5A) c.958-21delT:-,NOT_FOUND:-,NOT_FOUND 2 86998836 . G . . NT END=87000470;NT GT ./. 2 87000535 . A . . NT END=87013042;NT GT ./. 2 87013095 . C . . NT END=87015652;NT GT ./. 2 87015633 rs71378806 T TGA 134 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.1765,TGA/0.8235;DB;DBA=NA;PAF=T/0.1765,TGA/0.8235;NP=3239;Gene=CD8A/NM_001768.6/1;CC=c.656+18_656+19dupTC;VC=Intron;Gene=CD8A/NM_171827.3/0;CC=c.545+18_545+19dupTC;VC=Intron;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.656+18_656+19dupTC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T,TGA:37:30:36:0:1,36:34,1189:0.00,134.07:0.00,78.68:0.00,55.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,3.8:0,0:0,0:143,58:4,90:0,20:NM_001768.6(CD8A) c.656+19_656+20insTC,NM_001768.6(CD8A) c.656+19_656+20insTC:0.86,0.86:0.832907,0.832907 2 87015684 . C . . NT END=87016445;NT GT ./. 2 87016557 . C . . NT END=87016762;NT GT ./. 2 87016874 . C . . NT END=87017450;NT GT ./. 2 87016922 rs142496274 G GCACCCC 46 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.7993,GCACCCC/.,GCCCCCC/.,GCGCCCC/0.2007;NP=14;NP=169;NP=34;Gene=CD8A/NM_001768.6/1;CC=c.404-50_404-49insGGGGTG;VC=Intron;Gene=CD8A/NM_171827.3/0;CC=c.404-50_404-49insGGGGTG;VC=Intron;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.404-50_404-49insGGGGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCACCCC:46:20:17:0:29,17:927,515:0.00,46.46:0.00,12.96:0.00,33.50:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.4,7.4:0,0:0,0:109,108:37,41:26,22:-,NM_001768.6(CD8A) c.404-50_404-49insGGGGTG:-,NOT_FOUND:-,0.059602 2 87017069 rs2944250 C G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7772,G/0.2228;Gene=CD8A/NM_001768.6/1;CC=c.404-196G>C;VC=Intron;Gene=CD8A/NM_171827.3/0;CC=c.404-196G>C;VC=Intron;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.404-196G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,G:7:0:0:0:3,4:61,133:0.00,13.15:0.00,0.00:0.00,13.15:0.00,0.90:0.00,0.00:0.00,0.90:60,60:31.7,52.2:0,0:0,0:40,123:111,26:10,8:-,NM_001768.6(CD8A) c.404-196G>C:-,0.23:-,NOT_FOUND 2 87017158 rs62146064 T C 13 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9784,C/0.02157;PC=0.002;Gene=CD8A/NM_001768.6/1;CC=c.404-285A>G;VC=Intron;Gene=CD8A/NM_171827.3/0;CC=c.404-285A>G;VC=Intron;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.404-285A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:7:4:0:0:4,3:130,95:12.83,0.00:13.94,0.00:-1.10,0.00:0.90,0.00:0.97,0.00:0.93,0.00:60,60:67.5,31.7:0,0:0,0:11,119:135,31:8,10:NM_001768.6(CD8A) c.404-285A>G,-:0.03,-:NOT_FOUND,- 2 87017199 rs13411320 T G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=CD8A/NM_001768.6/1;CC=c.403+252A>C;VC=Intron;Gene=CD8A/NM_171827.3/0;CC=c.403+252A>C;VC=Intron;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.403+252A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:5:4:0:0:4,1:96,33:10.40,0.00:11.10,0.00:-0.70,0.00:0.96,0.00:1.00,0.00:0.87,0.00:60,60:67.5,0.0:0,0:0,0:52,55:94,94:8,0:NM_001768.6(CD8A) c.403+252A>C,-:0.05,-:NOT_FOUND,- 2 87017575 rs2229240 C T 159 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.9635,A/.,T/0.03654;Gene=CD8A/NM_001768.6/1;CC=c.279G>A;ProtCh=p.R93=;VC=Silent;Gene=CD8A/NM_171827.3/0;CC=c.279G>A;ProtCh=p.R93=;VC=Silent;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.279G>A;ProtCh=p.R93=;VC=Silent;DM=CD8A/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:113:87:0:0:59,54:1851,1673:0.00,159.07:0.00,92.93:0.00,66.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,52.5:0,0:0,0:89,70:54,78:32,33:-,NM_001768.6(CD8A) c.279G>A (p.(=)):-,0.04:-,0.077272 2 87017662 rs2229239 G T 189 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=G/0.9635,T/0.03654;Gene=CD8A/NM_001768.6/1;CC=c.192C>A;ProtCh=p.A64=;VC=Silent;Gene=CD8A/NM_171827.3/0;CC=c.192C>A;ProtCh=p.A64=;VC=Silent;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.192C>A;ProtCh=p.A64=;VC=Silent;DM=CD8A/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:131:85:0:0:68,63:2060,1987:0.00,189.35:0.00,91.45:0.00,97.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,54.7:0,0:0,0:55,74:84,76:33,33:-,NM_001768.6(CD8A) c.192C>A (p.(=)):-,0.04:-,0.076408 2 87017805 . C . . NT END=87017899;NT GT ./. 2 87017843 . G GCGCCCCC 62 nt VT=INS;SST=Single;DP=115;NP=4;Gene=CD8A/NM_001768.6/1;CC=c.50-40_50-39insGGGGGCG;VC=Intron;Gene=CD8A/NM_171827.3/0;CC=c.50-40_50-39insGGGGGCG;VC=Intron;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.50-40_50-39insGGGGGCG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCGCCCCC:115:62:25:0:90,25:2890,766:0.00,62.43:0.00,36.08:0.00,26.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.5,9.3:2,0:0,0:95,57:52,94:39,29:-,NM_001768.6(CD8A) c.50-40_50-39insGGGGGCG:-,NOT_FOUND:-,0.011891 2 87017949 . G . . NT END=87042729;NT GT ./. 2 87017989 rs36227194 G T 94 nt VT=SNV;PN=C;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.9635,T/0.03654;Gene=CD8A/NM_001768.6/1;CC=c.-41C>A;VC=5UTR;Gene=CD8A/NM_171827.3/0;CC=c.-41C>A;VC=5UTR;Gene=CD8A/NR_027353.1/0;VC=NonCoding;Gene=CD8A/NM_001145873.1/0;CC=c.-41C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:63:33:0:0:32,31:978,980:0.00,93.87:0.00,36.68:0.00,57.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.6,37.6:0,0:0,0:99,96:50,52:35,33:-,NM_001768.6(CD8A) c.-41C>A:-,0.04:-,0.05855 2 87041414 rs71378809 AAC A 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=81;PC=0.041;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AAC,A:4:3:0:3:1,3:33,91:0.00,9.55:0.00,3.15:0.00,6.40:0.00,0.85:0.00,0.99:0.00,0.99:60,60:2.0,0.0:0,0:0,0:26,57:125,92:0,13:-,NM_001145873.1(CD8A) c.-1031-u5897_-1031-u5896delGT:-,NOT_FOUND:-,NOT_FOUND 2 87042842 . C . . NT END=87049443;NT GT ./. 2 87049498 . C . . NT END=87068688;NT GT ./. 2 87049696 rs114490030 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9884,G/0.01158;Gene=CD8B/NM_001178100.1/0;CC=c.494-6855T>C;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.621-199T>C;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.531-6855T>C;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.621-6855T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:6:0:0:0:3,3:86,105:0.00,10.13:0.00,0.00:0.00,10.13:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,35.0:0,0:0,0:88,82:63,69:7,4:-,NM_172213.3(CD8B) c.621-6855T>C:-,0.02:-,NOT_FOUND 2 87068648 rs62146880 G T 157 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.2831,T/0.7169;NP=8;Gene=CD8B/NM_001178100.1/0;CC=c.493+11472C>A;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.620+3397C>A;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.530+3397C>A;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.620+3397C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:36:0:0:40:1375:156.57:114.37:42.21:1.00:1.00:1.00:51:41.3:0:0:55:92:36:NM_172213.3(CD8B) c.620+3397C>A,NM_172213.3(CD8B) c.620+3397C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87068782 rs28401474 T G 369 lc VT=SNV;PN=T;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=NA;Gene=CD8B/NM_001178100.1/0;CC=c.493+11338A>C;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.620+3263A>C;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.530+3263A>C;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.620+3263A>C;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.*648A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:99:80:0:0:3,96:27,3241:0.63,368.53:0.63,258.38:0.00,110.14:0.00,1.00:0.00,1.00:0.00,1.00:53,60:174.3,42.7:0,0:0,0:54,77:97,73:1,32:NM_172213.3(CD8B) c.620+3263A>C,NM_172213.3(CD8B) c.620+3263A>C:0.53,0.53:NOT_FOUND,NOT_FOUND 2 87069379 rs4322832 G A 277 lc VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.3053,A/0.6947;Gene=CD8B/NM_001178100.1/0;CC=c.493+10741C>T;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.620+2666C>T;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.530+2666C>T;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.620+2666C>T;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.*51C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:30:0:0:76:2407:276.86:86.23:190.63:1.00:1.00:1.00:51:58.8:0:0:105:46:32:NM_172213.3(CD8B) c.620+2666C>T,NM_172213.3(CD8B) c.620+2666C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87069431 rs4514875 C T 219 lc VT=SNV;PN=T;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.3055,T/0.6945;PC=0.975;Gene=CD8B/NM_001178100.1/0;CC=c.493+10689G>A;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.620+2614G>A;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.530+2614G>A;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.620+2614G>A;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.632G>A;ProtCh=p.*211=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:T:64:20:0:0:64:1894:219.42:62.70:156.72:1.00:1.00:1.00:43:66.8:0:0:80:70:41:NM_172213.3(CD8B) c.620+2614G>A,NM_172213.3(CD8B) c.620+2614G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 87069443 . C . . NT END=87070498;NT GT ./. 2 87070587 rs4971893 G A 184 lc VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.3041,A/0.6959;Gene=CD8B/NM_001178100.1/0;CC=c.493+9533C>T;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.620+1458C>T;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.530+1458C>T;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.620+1458C>T;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.621-1145C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:37:0:0:50:1600:183.77:108.70:75.06:1.00:1.00:1.00:44:37.4:0:0:75:75:37:NM_172213.3(CD8B) c.620+1458C>T,NM_172213.3(CD8B) c.620+1458C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 2 87070786 . C . . NT END=87071715;NT GT ./. 2 87072082 . C . . NT END=87073806;NT GT ./. 2 87073743 rs4971887 A G 108 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.2813,G/0.7187;Gene=CD8B/NM_001178100.1/0;CC=c.493+6377T>C;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.583+64T>C;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.494-1662T>C;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.583+64T>C;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.583+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:29:0:0:29:942:108.01:106.02:1.99:1.00:1.00:1.00:51:42.5:0:0:45:96:27:NM_172213.3(CD8B) c.583+64T>C,NM_172213.3(CD8B) c.583+64T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 2 87073897 . C . . NT END=87080119;NT GT ./. 2 87074050 rs60980294 AT C,A 19 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:17:C,A:6:2:0:6:5,1:171,26:19.09,2.30:3.90,0.00:15.19,2.30:0.99,0.00:0.98,0.00:0.99,0.00:52,60:48.2,14.0:0,0:0,0:134,14:17,136:3,0:NM_172213.3(CD8B) c.494-155_494-154delATinsG,NM_172213.3(CD8B) c.494-155delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87080210 . C . . NT END=87085179;NT GT ./. 2 87084916 rs13400210 T C 22 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4884,C/0.5116;Gene=CD8B/NM_001178100.1/0;CC=c.403+264A>G;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.403+264A>G;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.403+264A>G;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.403+264A>G;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.403+264A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:193:22.16:20.22:1.94:1.00:1.00:1.00:60:39.7:0:0:45:106:5:NM_172213.3(CD8B) c.403+264A>G,NM_172213.3(CD8B) c.403+264A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 2 87085540 . C . . NT END=87088945;NT GT ./. 2 87085598 rs28727404 T C 101 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=CD8B/NM_001178100.1/0;CC=c.44-59A>G;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.44-59A>G;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.44-59A>G;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.44-59A>G;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.44-59A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:0:0:0:30:867:100.91:0.00:100.91:1.00:0.00:1.00:41:51.4:0:0:101:49:35:NM_172213.3(CD8B) c.44-59A>G,NM_172213.3(CD8B) c.44-59A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 2 87085641 rs13390206 G A 61 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4918,A/0.5082;PC=0.001;Gene=CD8B/NM_001178100.1/0;CC=c.44-102C>T;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.44-102C>T;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.44-102C>T;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.44-102C>T;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.44-102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:0:0:0:18:525:61.02:0.00:61.02:1.00:0.00:1.00:40:70.7:0:0:107:43:22:NM_172213.3(CD8B) c.44-102C>T,NM_172213.3(CD8B) c.44-102C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 2 87085742 rs147644623 G C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=CD8B/NM_001178100.1/0;CC=c.44-203C>G;VC=Intron;Gene=CD8B/NM_172101.3/1;CC=c.44-203C>G;VC=Intron;Gene=CD8B/NM_172102.3/0;CC=c.44-203C>G;VC=Intron;Gene=CD8B/NM_172213.3/0;CC=c.44-203C>G;VC=Intron;Gene=CD8B/NM_004931.4/0;CC=c.44-203C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:115:13.37:0.00:13.37:1.00:0.00:1.00:40:74.2:0:0:71:80:25:NM_172213.3(CD8B) c.44-203C>G,NM_172213.3(CD8B) c.44-203C>G:0.44,0.44:NOT_FOUND,NOT_FOUND 2 87088964 rs62146888 A G 294 lc VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.489,G/0.511;PC=0.375;Gene=CD8B/NM_001178100.1/0;CC=c.25T>C;ProtCh=p.L9=;VC=Silent;Gene=CD8B/NM_172101.3/1;CC=c.25T>C;ProtCh=p.L9=;VC=Silent;Gene=CD8B/NM_172102.3/0;CC=c.25T>C;ProtCh=p.L9=;VC=Silent;Gene=CD8B/NM_172213.3/0;CC=c.25T>C;ProtCh=p.L9=;VC=Silent;Gene=CD8B/NM_004931.4/0;CC=c.25T>C;ProtCh=p.L9=;VC=Silent;Gene=ANAPC1P1/NR_037931.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:53:0:0:78:2568:293.94:136.50:157.44:1.00:1.00:1.00:60:38.7:0:0:75:69:32:NM_172213.3(CD8B) c.25T>C (p.(=)),NM_172213.3(CD8B) c.25T>C (p.(=)):0.52,0.52:NOT_FOUND,NOT_FOUND 2 87088989 . C . . NT END=87135091;NT GT ./. 2 87095970 rs376874509 C CA 19 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=72;PC=0.995;Gene=ANAPC1P1/NR_037931.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,CA:9:9:7:0:3,6:103,218:0.00,18.83:0.00,16.68:0.00,2.15:0.00,0.99:0.00,1.00:0.00,0.73:50,42:33.7,83.2:0,1:0,0:34,83:117,67:20,30:-,NR_037931.1(ANAPC1P1) n.99-2460_99-2459insA:-,NOT_FOUND:-,NOT_FOUND 2 87095981 rs28446082 C A 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.398,A/0.602;PC=0.988;Gene=ANAPC1P1/NR_037931.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:9:0:1:11:347:39.94:30.42:9.53:1.00:1.00:1.00:52:71.1:0:0:25:123:24:NR_037931.1(ANAPC1P1) n.99-2449C>A,NR_037931.1(ANAPC1P1) n.99-2449C>A:0.52,0.52:NOT_FOUND,NOT_FOUND 2 87096009 rs71411875 C T 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4822,T/0.5178;PC=0.836;Gene=ANAPC1P1/NR_037931.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:11:0:0:16:478:55.39:29.47:25.92:1.00:1.00:1.00:53:54.4:0:0:31:101:16:NR_037931.1(ANAPC1P1) n.99-2421C>T,NR_037931.1(ANAPC1P1) n.99-2421C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 2 87105444 rs12621901 C T 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4389,T/0.5611;Gene=ANAPC1P1/NR_037931.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:162:18.58:18.58:0.00:1.00:1.00:0.00:50:36.4:0:0:30:121:21:NR_037931.1(ANAPC1P1) n.714-196C>T,NR_037931.1(ANAPC1P1) n.714-196C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 2 87114860 rs542719598 G GT 6 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=1;Gene=ANAPC1P1/NR_037931.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:G,GT:34:29:3:0:31,3:1003,93:0.00,6.33:0.00,5.31:0.00,1.02:0.00,0.40:0.00,0.84:0.00,0.61:60,56:18.9,4.0:0,0:0,0:43,94:108,56:36,9:-,NR_037931.1(ANAPC1P1) n.1170-36_1170-35insT:-,NOT_FOUND:-,NOT_FOUND 2 87122105 rs377096817 CT C 14 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=161;Gene=ANAPC1P1/NR_037931.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:CT,I,C:18:10:3:5:11,2,5:329,80,162:0.00,3.78,14.23:0.00,-0.27,8.56:0.00,4.04,5.67:0.00,0.00,0.86:0.00,0.00,0.92:0.00,0.00,0.92:60,60,60:8.2,26.0,15.8:0,1,0:0,0,0:28,71,105:122,80,46:17,47,17:-,NR_037931.1(ANAPC1P1) n.1731-19delT:-,NOT_FOUND:-,NOT_FOUND 2 87135140 . G . . NT END=87140889;NT GT ./. 2 87141045 . G . . NT END=87169359;NT GT ./. 2 87157587 rs139263407 A G 52 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=0.999;Gene=RGPD2/NM_001078170.2/1;CC=c.72+16543A>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.48+12786A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:67:0:0:64,19:2071,619:0.00,51.59:0.00,54.63:0.00,-3.05:0.00,1.00:0.00,1.00:0.00,1.00:43,39:15.4,34.3:0,0:0,0:67,61:84,88:32,39:-,NM_001024457.3(RGPD1) c.48+12786A>G:-,0.29:-,NOT_FOUND 2 87158202 rs201854267 G A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.724,A/0.276;NP=178;PC=0.398;Gene=RGPD2/NM_001078170.2/1;CC=c.72+17158G>A;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.48+13401G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:0:0:0:3,1:101,32:10.55,0.00:0.00,0.00:10.55,0.00:0.85,0.00:0.00,0.00:0.85,0.00:40,40:81.3,0.0:0,0:0,0:136,123:15,27:4,0:NM_001024457.3(RGPD1) c.48+13401G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 87158211 rs200271632 T G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.724,G/0.276;NP=146;PC=0.389;Gene=RGPD2/NM_001078170.2/1;CC=c.72+17167T>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.48+13410T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:G,T:4:0:0:0:3,1:61,33:6.52,0.00:0.00,0.00:6.52,0.00:0.85,0.00:0.00,0.00:0.85,0.00:40,40:81.3,0.0:0,0:0,0:145,132:6,18:4,0:NM_001024457.3(RGPD1) c.48+13410T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 87169316 rs202230148 T G 551 nt VT=SNV;PN=C;NN=G;SST=Single;DP=417;DB;DBA=NA;PAF=T/0.7222,G/0.2778;NP=404;PC=0.001;Gene=RGPD2/NM_001078170.2/1;CC=c.73-9103T>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.49-9103T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:417:355:0:0:1,193,223:8,5843,7567:-0.18,551.26,0.00:-0.13,330.28,0.00:-0.05,220.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,44,43:8.0,39.7,6.2:0,1,0:0,0,0:146,39,53:5,109,97:0,25,27:NM_001024457.3(RGPD1) c.49-9103T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 87169433 . T . . NT END=87178418;NT GT ./. 2 87169455 . ACGGCCTCGACCTGGCCGGGCGG A 74 nt VT=DEL;SST=Single;DP=329;PC=0.166;Gene=RGPD2/NM_001078170.2/1;CC=c.73-8910_73-8889delCCTGGCCGGGCGGCGGCCTCGA;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.49-8910_49-8889delCCTGGCCGGGCGGCGGCCTCGA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACGGCCTCGACCTGGCCGGGCGG,G,A:329:130:0:38:290,1,38:8885,32,1065:0.00,0.81,73.78:0.00,-0.10,4.30:0.00,0.90,69.48:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,61:32.3,95.0,6.0:0,0,0:0,0,0:117,0,56:30,151,94:17,0,13:-,NM_001024457.3(RGPD1) c.49-8963_49-8942delCGGCCTCGACCTGGCCGGGCGG:-,NOT_FOUND:-,NOT_FOUND 2 87169471 rs564118497 C G 407 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=NA;NP=124;NP=34;PC=0.010;Gene=RGPD2/NM_001078170.2/1;CC=c.73-8948C>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.49-8948C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:235:78:0:44:101,134:3057,4130:0.00,406.97:0.00,78.43:0.00,328.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,71.0:0,0:0,0:127,116:23,31:13,17:-,NM_001024457.3(RGPD1) c.49-8948C>G:-,NOT_FOUND:-,NOT_FOUND 2 87169493 . C G 271 nt VT=SNV;PN=C;NN=G;SST=Single;DP=209;NP=26;NP=4;Gene=RGPD2/NM_001078170.2/1;CC=c.73-8926C>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.49-8926C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:209:41:0:0:116,92,1:3328,2891,12:0.00,271.02,-0.17:0.00,38.32,-0.02:0.00,232.70,-0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:69,60,60:13.0,85.3,0.0:42,0,1:0,0,0:110,124,45:17,23,106:32,17,0:-,NM_001024457.3(RGPD1) c.49-8926C>G:-,NOT_FOUND:-,NOT_FOUND 2 87169515 . C G 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=115;Gene=RGPD2/NM_001078170.2/1;CC=c.73-8904C>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.49-8904C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:115:8:0:0:84,31:2380,909:0.00,76.72:0.00,1.54:0.00,75.18:0.00,1.00:0.00,0.89:0.00,1.00:69,60:26.6,114.4:0,0:0,0:80,136:69,12:21,8:-,NM_001024457.3(RGPD1) c.49-8904C>G:-,NOT_FOUND:-,NOT_FOUND 2 87170387 . A C 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=56;Gene=RGPD2/NM_001078170.2/1;CC=c.73-8032A>C;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.49-8032A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C,T:56:1:0:0:45,10,1:840,127,10:0.00,6.39,-0.18:0.00,-0.04,-0.00:0.00,6.44,-0.18:0.00,0.99,0.00:0.00,0.45,0.00:0.00,0.99,0.00:44,45,39:24.9,76.1,210.0:0,0,0:0,0,0:90,42,90:61,108,61:21,21,0:-,NM_001024457.3(RGPD1) c.49-8032A>C:-,NOT_FOUND:-,NOT_FOUND 2 87170442 rs561267224 TA T 10 rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=RGPD2/NM_001078170.2/1;CC=c.73-7964delA;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.49-7964delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,C,TA,I,T:42:0:2:7:1,1,31,2,7:8,12,938,42,145:-0.19,-0.02,0.00,2.09,10.06:0.00,0.00,0.00,0.00,0.00:-0.19,-0.02,0.00,2.09,10.06:0.00,0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.00,0.94:27,39,45,39,39:63.0,210.0,38.0,24.0,42.4:0,0,0,0,0:0,0,0,0,0:46,145,111,97,120:65,6,39,52,28:0,0,22,15,6:-,NM_001024457.3(RGPD1) c.49-7976delA:-,NOT_FOUND:-,NOT_FOUND 2 87178485 . T . . NT END=87180064;NT GT ./. 2 87180178 . T . . NT END=87180620;NT GT ./. 2 87180775 . T . . NT END=87184828;NT GT ./. 2 87185061 . T . . NT END=87185404;NT GT ./. 2 87185552 . T . . NT END=87190151;NT GT ./. 2 87190349 . T . . NT END=87196350;NT GT ./. 2 87196440 . T . . NT END=87198869;NT GT ./. 2 87199081 . T . . NT END=87201195;NT GT ./. 2 87201069 . C T 89 nt VT=SNV;PN=T;NN=C;SST=Single;DP=137;Gene=RGPD2/NM_001078170.2/1;CC=c.1274-127C>T;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.1250-127C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:137:137:0:0:102,1,34:3349,11,1057:0.00,-0.22,88.72:0.00,-0.22,88.72:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:50,24,41:6.8,76.0,34.9:0,0,0:0,0,0:37,24,31:112,125,119:19,0,17:-,NM_001024457.3(RGPD1) c.1250-127C>T:-,NOT_FOUND:-,NOT_FOUND 2 87201379 . T . . NT END=87201460;NT GT ./. 2 87201638 . T . . NT END=87201803;NT GT ./. 2 87201929 . T . . NT END=87202850;NT GT ./. 2 87203011 . T . . NT END=87203275;NT GT ./. 2 87203415 . T . . NT END=87203675;NT GT ./. 2 87203824 . T . . NT END=87204702;NT GT ./. 2 87204884 . T . . NT END=87204970;NT GT ./. 2 87205056 . T . . NT END=87208205;NT GT ./. 2 87205161 rs2674150 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=24;PC=0.004;Gene=RGPD2/NM_001078170.2/1;CC=c.2463+107A>C;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.2439+107A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,C:22:1:0:0:17,5:450,102:0.00,7.49:0.00,-0.11:0.00,7.60:0.00,0.84:0.00,0.49:0.00,0.98:57,54:32.9,40.6:0,0:0,0:52,43:91,108:18,7:-,NM_001024457.3(RGPD1) c.2439+107A>C:-,NOT_FOUND:-,NOT_FOUND 2 87205236 rs71256353 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=387;PC=0.006;Gene=RGPD2/NM_001078170.2/1;CC=c.2463+182G>A;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.2439+182G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:25:0:0:0:4,21:130,693:10.14,0.00:0.00,0.00:10.14,0.00:0.67,0.00:0.00,0.00:0.67,0.00:52,57:45.8,23.7:0,0:0,0:120,97:30,49:15,21:NM_001024457.3(RGPD1) c.2439+182G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 87208325 . T . . NT END=87211876;NT GT ./. 2 87211874 rs371771525 T C 64 nt VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.5062,C/0.4896;DB;DBA=NA;PAF=T/0.5062,TC/0.004193,TTTTC/.;PC=0.982;Gene=RGPD2/NM_001078170.2/1;CC=c.2582-3T>C;VC=Intergenic;Gene=RGPD1/NM_001024457.3/1;CC=c.2558-3T>C;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:68:62:0:0:24,1,43:713,10,1297:63.77,-0.14,0.00:42.06,-0.03,0.00:21.71,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:31,13,51:40.7,60.0,28.0:0,0,1:0,0,0:60,111,50:84,35,87:22,0,24:NM_001024457.3(RGPD1) c.2558-3T>C,-:0.21,-:NOT_FOUND,- 2 87211973 . T . . NT END=87212698;NT GT ./. 2 87212008 . T C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;NP=11;Gene=RGPD2/NM_001078170.2/1;CC=c.2676+37T>C;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.2652+37T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T:27:0:0:0:5,22:158,739:12.57,0.00:0.00,0.00:12.57,0.00:0.82,0.00:0.00,0.00:0.82,0.00:30,40:39.8,1.7:0,0:0,0:67,105:83,46:49,28:NM_001024457.3(RGPD1) c.2652+37T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 87212153 rs368642186 A G 7 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10;Gene=RGPD2/NM_001078170.2/1;CC=c.2676+182A>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.2652+182A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:0:0:0:2,2:68,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:23,15:17.0,34.5:0,0:0,0:62,80:89,70:25,16:-,NM_001024457.3(RGPD1) c.2652+182A>G:-,NOT_FOUND:-,NOT_FOUND 2 87214924 . T . . NT END=87218267;NT GT ./. 2 87218922 . t . . NT END=87221963;NT GT ./. 2 87220544 . A T 7 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;PC=0.931;Gene=RGPD2/NM_001078170.2/1;CC=c.4901-1420A>T;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.4877-1420A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,T:18:2:0:0:15,3:452,87:0.00,6.61:0.00,-0.12:0.00,6.73:0.00,0.52:0.00,0.42:0.00,0.91:42,21:6.4,32.3:0,0:0,0:91,150:58,1:38,0:-,NM_001024457.3(RGPD1) c.4877-1420A>T:-,NOT_FOUND:-,NOT_FOUND 2 87222104 . G . . NT END=87224685;NT GT ./. 2 87224882 . G . . NT END=87239635;NT GT ./. 2 87225001 rs201475745 T G 102 nt VT=SNV;PN=A;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=NA;PC=0.499;Gene=RGPD2/NM_001078170.2/1;CC=c.5236+120T>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.5212+120T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:100:0:0:0:1,35,64:10,1130,1861:-0.18,101.85,0.00:0.00,0.00,0.00:-0.18,101.85,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:27,27,27:76.0,38.7,6.9:0,0,0:0,0,0:73,122,109:77,29,41:0,17,18:NM_001024457.3(RGPD1) c.5212+120T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 87225082 . A G 11 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;PC=0.004;Gene=RGPD2/NM_001078170.2/1;CC=c.5236+201A>G;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.5212+201A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,G:5:0:0:0:1,4:8,103:0.00,11.20:0.00,0.00:0.00,11.20:0.00,0.96:0.00,0.00:0.00,0.96:22,21:111.0,51.8:0,0:0,0:109,149:11,1:0,1:NM_001024457.3(RGPD1) c.5212+201A>G,NM_001024457.3(RGPD1) c.5212+201A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87239671 . A . . NT END=87243425;NT GT ./. 2 87243501 rs199986885 T C 26 lc VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6669,C/0.3331;PC=0.772;Gene=PLGLB1/NM_001032392.2/1;CC=c.216A>G;ProtCh=p.Q72=;VC=Silent;Gene=PLGLB2/NM_002665.4/1;CC=c.216A>G;ProtCh=p.Q72=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:0:0:0:8,9:271,300:25.81,0.00:0.00,0.00:25.81,0.00:0.99,0.00:0.00,0.00:0.99,0.00:27,27:41.0,7.2:0,0:0,0:104,65:46,86:20,22:NM_001032392.2(PLGLB1) c.216A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 87243532 . C . . NT END=87244675;NT GT ./. 2 87244812 . C . . NT END=87248857;NT GT ./. 2 87248907 . T . . NT END=88003947;NT GT ./. 2 87270598 . T C 20 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;PC=0.019;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:7,19:230,567:19.78,0.00:19.78,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:1,54:51.4,46.7:0,0:0,0:31,61:119,78:4,45:NR_026846.1(LOC285074) n.1423+238A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 87270611 rs201248169 G A 17 idl;mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=7;PC=0.002;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:A,G:19:19:0:8:6,13:194,427:17.12,0.00:17.12,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:7,54:59.3,40.2:0,3:0,0:65,48:86,65:38,37:NR_026846.1(LOC285074) n.1423+225C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 87270797 . C G 9 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G:14:0:0:0:10,4:293,107:0.00,8.97:0.00,0.00:0.00,8.97:0.00,0.98:0.00,0.00:0.00,0.98:40,1:5.1,66.2:0,0:0,0:33,36:118,114:15,15:-,NR_026846.1(LOC285074) n.1423+39G>C:-,NOT_FOUND:-,NOT_FOUND 2 87276811 rs34148650 T C 194 nt VT=SNV;PN=A;NN=C;SST=Single;DP=185;DB;DBA=NA;PAF=T/0.6963,C/0.3037;PC=1.000;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:185:120:0:0:67,118:2147,3862:194.06,0.00:102.42,0.00:91.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,42:37.4,6.7:0,0:0,0:90,92:60,51:21,22:NR_026846.1(LOC285074) n.933A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 87279868 . A C 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:32:0:0:17,15:567,481:0.00,45.62:0.00,45.62:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:27,27:1.6,38.5:0,0:0,0:67,49:84,102:34,27:-,NR_026846.1(LOC285074) n.817+69T>G:-,NOT_FOUND:-,NOT_FOUND 2 87282893 rs75961009 C G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.003994,G/0.996;PC=1.000;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,G:6:5:0:0:1,5:10,147:0.00,15.96:0.00,16.66:0.00,-0.71:0.00,0.99:0.00,1.00:0.00,0.89:27,21:37.0,33.4:0,0:0,0:114,43:36,108:0,40:NR_026846.1(LOC285074) n.526G>C,NR_026846.1(LOC285074) n.526G>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 87302879 rs62144416 A G 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:14:14:0:0:5,9:140,277:0.00,28.06:0.00,28.06:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:42,42:4.6,49.9:0,0:0,0:65,40:86,110:25,32:-,NR_026846.1(LOC285074) n.495+163T>C:-,0.3:-,NOT_FOUND 2 87303060 rs62144417 C G 120 nt VT=SNV;PN=T;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.7063,G/0.2937;PC=1.000;Gene=LOC285074/NR_026846.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:98:80:0:0:58,40:1898,1302:0.00,120.47:0.00,73.68:0.00,46.79:0.00,1.00:0.00,1.00:0.00,1.00:60,56:12.8,37.2:0,0:0,0:56,70:85,81:35,34:-,NR_026846.1(LOC285074) n.477G>C:-,0.31:-,NOT_FOUND 2 87345696 rs62144432 A C 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6733,C/0.3267;PC=0.828 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:44:25:0:0:23,21:783,647:0.00,61.47:0.00,24.50:0.00,36.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,34.9:0,0:0,0:96,88:53,63:24,29:-,chr2 g.87345695A>C (intergenic):-,0.34:-,NOT_FOUND 2 87347862 rs202048070 G A 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=17;PC=0.058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:4:0:0:3,1:95,32:9.95,0.00:9.95,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:40,40:42.7,0.0:0,0:0,0:100,9:51,141:10,0:chr2 g.87347861G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87348265 rs62144433 T C 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=496;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:0:0:0:16,10:494,263:49.55,0.00:0.00,0.00:49.55,0.00:1.00,0.00:0.00,0.00:1.00,0.00:43,42:45.9,44.6:0,0:0,0:96,123:53,25:14,16:chr2 g.87348264T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87352314 rs201250802 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4283,T/0.5717;PC=0.058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:27:23:0:0:21,6:678,198:0.00,16.46:0.00,14.31:0.00,2.15:0.00,0.91:0.00,0.99:0.00,0.96:60,40:8.0,53.5:0,0:0,0:59,8:89,143:20,5:-,chr2 g.87352313C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87352393 rs74575721 G T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:32:18:0:0:23,9:799,304:0.00,26.44:0.00,8.83:0.00,17.61:0.00,0.99:0.00,0.99:0.00,1.00:60,60:6.5,44.7:0,0:0,0:85,69:63,81:33,11:-,chr2 g.87352392G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87355707 rs200544053 G A 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=127;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,G:88:83:0:0:10,78:295,2444:20.81,0.00:21.26,0.00:-0.45,0.00:0.98,0.00:1.00,0.00:0.69,0.00:40,49:45.1,9.4:0,0:0,0:57,50:94,101:17,29:chr2 g.87355706G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87355846 . T C 74 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=172;NP=188;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:172:115:0:0:30,142:943,4682:74.08,0.00:76.69,0.00:-2.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:73.2,8.1:0,0:0,0:55,74:95,75:36,38:chr2 g.87355845T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87355854 . A G 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=172;NP=233;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:172:114:0:0:151,20,1:4720,574,10:0.00,40.21,-0.33:0.00,32.73,-0.20:0.00,7.48,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,45,51:11.2,82.2,34.0:0,0,0:0,0,0:81,37,59:68,113,88:37,28,0:-,chr2 g.87355853A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87355912 rs201336213 C T 70 nt VT=SNV;PN=T;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=1189;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:174:88:0:0:148,26:4564,894:0.00,70.00:0.00,20.32:0.00,49.67:0.00,1.00:0.00,1.00:0.00,1.00:60,49:19.8,60.4:0,0:0,0:81,34:67,116:30,5:-,chr2 g.87355911C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87355925 rs77851313 G A 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=169;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:169:79:0:0:30,139:1005,4564:80.50,0.00:31.05,0.00:49.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:60.5,17.5:0,0:0,0:67,70:82,79:12,26:chr2 g.87355924G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87356024 rs3101261 C A 70 nt VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=1188 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:87:12:0:0:24,63:808,1884:70.01,0.00:10.44,0.00:59.56,0.00:1.00,0.00:0.96,0.00:1.00,0.00:49,55:84.9,18.8:0,0:0,0:141,108:9,43:7,30:chr2 g.87356023C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87356038 rs201869954 G A 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=561 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,C,G:60:6:0:0:8,1,51:253,18,1761:18.95,0.24,0.00:1.18,-0.03,0.00:17.77,0.26,0.00:0.95,0.00,0.00:0.55,0.00,0.00:1.00,0.00,0.00:40,37,55:113.6,100.0,20.9:0,0,0:0,0,0:105,146,105:46,5,45:11,0,26:chr2 g.87356037G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87356057 rs80344669 A G 112 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=2338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:5:0:0:18,33:543,1105:0.00,111.85:0.00,7.54:0.00,104.31:0.00,1.00:0.00,0.99:0.00,1.00:55,53:2.8,57.1:0,0:0,0:114,108:36,42:24,25:-,chr2 g.87356056A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87356099 rs200099198 G T 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:G,T:27:0:0:0:24,3:775,99:0.00,7.24:0.00,0.00:0.00,7.24:0.00,0.44:0.00,0.00:0.00,0.44:55,37:31.2,119.0:0,0:0,0:102,120:49,31:31,24:-,chr2 g.87356098G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87356837 rs202068182 GTTT G 8 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=6;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:GTTT,G:5:5:0:3:2,3:55,78:0.00,7.76:0.00,7.76:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:40,40:32.0,30.0:0,0:0,0:51,54:98,95:45,2:-,chr2 g.87356838_87356840delTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87359129 rs149115575 G A 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=725;PC=0.586 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:37:0:0:22,34:684,949:62.63,0.00:40.27,0.00:22.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:43.7,2.6:0,0:0,0:77,60:73,89:33,24:chr2 g.87359128G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87365406 rs2674221 T A 45 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=203;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:78:39:0:0:16,62:548,1959:45.26,0.00:0.11,0.00:45.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,46:46.3,10.0:0,0:0,0:84,77:66,67:32,25:chr2 g.87365405T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87365531 rs200567153 G A 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:74:48:0:0:22,1,50,1:730,13,1581,10:64.26,-0.05,0.00,-0.17:39.03,-0.13,0.00,-0.13:25.22,0.08,0.00,-0.04:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,9,44,40:42.9,52.0,6.9,97.0:0,0,0,0:0,0,0,0:45,150,49,119:96,-37,94,32:28,0,22,0:chr2 g.87365530G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87368385 . T G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:G,T:8:0:0:0:3,5:96,170:8.73,0.00:0.00,0.00:8.73,0.00:0.67,0.00:0.00,0.00:0.67,0.00:27,27:32.0,0.0:0,0:0,0:96,129:55,21:15,7:chr2 g.87368384T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87371058 . A G 8 end,nt VT=SNV;PN=G;NN=C;SST=Single;DP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:42:41:0:0:38,4:1209,123:0.00,8.48:0.00,8.54:0.00,-0.07:0.00,0.58:0.00,0.94:0.00,0.32:60,40:6.4,77.0:0,0:0,0:55,7:94,143:39,2:-,chr2 g.87371057A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87371091 rs370522115 A G 49 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:61:57:0:0:44,17:1421,565:0.00,48.94:0.00,48.27:0.00,0.67:0.00,1.00:0.00,1.00:0.00,0.95:60,45:2.2,46.8:0,0:0,0:55,20:94,131:32,10:-,chr2 g.87371090A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87371260 rs199958413 T C 119 nt VT=SNV;PN=G;NN=G;SST=Single;DP=190;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:190:135:0:0:47,143:1427,4716:118.98,0.00:69.02,0.00:49.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:52.2,5.4:0,0:0,0:94,81:55,65:27,29:chr2 g.87371259T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87371339 rs148290079 C T 119 nt VT=SNV;PN=T;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=NA;PC=0.345 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:149:31:0:0:107,42:3106,1369:0.00,118.57:0.00,25.71:0.00,92.86:0.00,1.00:0.00,1.00:0.00,1.00:40,40:8.9,59.3:0,0:0,0:106,94:45,55:34,35:-,chr2 g.87371338C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87372937 rs137923522 A C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9902,C/0.009784;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,C,G:5:5:0:0:2,2,1:65,69,10:0.00,6.61,0.60:0.00,6.61,0.60:0.00,0.00,0.00:0.00,0.46,0.00:0.00,0.46,0.00:0.00,0.00,0.00:60,60,60:0.0,68.5,111.0:0,0,0:0,0,0:51,19,8:99,132,142:48,8,0:-,chr2 g.87372936A>C (intergenic):-,0.01:-,NOT_FOUND 2 87373340 rs2260651 G T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.3756,T/0.6244;NP=30;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:G,T:50:34:0:3:41,9:1379,260:0.00,20.08:0.00,3.54:0.00,16.54:0.00,0.98:0.00,0.99:0.00,0.99:44,40:10.8,48.3:0,0:0,0:63,126:86,25:33,20:-,chr2 g.87373339G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87376944 rs6547711 G A 182 nt VT=SNV;PN=C;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.5769,A/0.4231 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:115:109:0:0:57,56,2:1882,1632,36:181.50,0.00,0.92:166.61,0.00,1.00:14.89,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.0,12.2,121.5:0,0,0:0,0,0:43,49,127:107,99,23:33,22,4:chr2 g.87376943G>A (intergenic),-:0.41,-:NOT_FOUND,- 2 87377477 rs4102541 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4183,A/0.5817;NP=110;PC=0.536 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:6:0:0:0:3,3:105,99:10.13,0.00:0.00,0.00:10.13,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:39.7,0.0:0,0:0,0:61,104:73,47:22,0:chr2 g.87377476G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87414330 rs1522044 T C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=2400;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:C,T:45:28:0:0:5,40:129,1340:8.56,0.00:4.93,0.00:3.63,0.00:0.74,0.00:0.90,0.00:0.95,0.00:27,60:51.8,2.3:0,0:0,0:78,94:73,53:24,18:chr2 g.87414329T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87423433 rs67035907 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,G:5:5:0:0:3,2:99,42:9.89,0.00:9.89,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:27,43:33.0,125.0:0,0:0,0:58,73:92,71:3,19:chr2 g.87423432G>A (intergenic),-:0.53,-:NOT_FOUND,- 2 87531115 . ATG A,ATGTG 6 idl,nt VT=DEL;SST=Single;DP=12;NP=6;PC=0.218 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:5:ATG,ATGTG,A:7:10:5:5:2,2,3:60,151,130:0.00,5.74,6.48:0.00,3.14,5.14:0.00,2.60,1.34:0.00,0.00,0.59:0.00,0.00,0.91:0.00,0.00,0.75:42,60,60:32.5,0.0,28.3:0,3,2:0,0,0:137,58,29:13,91,122:10,40,4:chr2 g.87531116_87531117delTG (intergenic),chr2 g.87531116_87531117dupTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87531263 rs1589176 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4742,C/0.5258;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:205:23.84:0.00:23.84:1.00:0.00:1.00:60:39.6:0:0:70:81:46:chr2 g.87531262T>C (intergenic),chr2 g.87531262T>C (intergenic):0.48,0.48:NOT_FOUND,NOT_FOUND 2 87531309 rs372266677 GA G 8 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.011;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GA,G:4:0:0:3:1,3:35,74:0.00,7.80:0.00,0.00:0.00,7.80:0.00,0.85:0.00,0.00:0.00,0.85:40,40:67.0,41.3:0,0:0,0:82,102:69,49:0,14:-,chr2 g.87531310delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87575890 rs62145296 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=211;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:C,T:5:5:0:0:4,1:132,13:14.05,0.00:10.71,0.00:3.35,0.00:0.96,0.00:0.96,0.00:0.99,0.00:60,60:68.8,45.0:0,0:0,0:92,71:41,56:17,0:chr2 g.87575889T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87575980 rs200978135 T C 12 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:6:4:0:1:4,2:116,67:11.83,0.00:10.88,0.00:0.95,0.00:0.93,0.00:0.99,0.00:0.97,0.00:22,57:187.8,211.0:0,0:0,0:60,84:77,53:25,3:chr2 g.87575979T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87576002 . T G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;NP=1;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:G,T:6:4:0:0:3,3:82,92:7.80,0.00:0.35,0.00:7.45,0.00:0.98,0.00:0.51,0.00:0.79,0.00:57,22:160.7,152.0:0,0:0,0:109,93:31,52:1,21:chr2 g.87576001T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87576020 . T G 10 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:G,T:7:5:0:0:3,4:103,111:9.66,0.00:0.86,0.00:8.80,0.00:0.69,0.00:0.93,0.00:0.89,0.00:57,33:239.0,148.5:0,0:0,0:121,100:14,37:6,25:chr2 g.87576019T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87576023 rs369584781 A C,G 11 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=14;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:55:A,C,G:7:5:0:0:1,2,4:13,65,103:0.00,6.22,10.87:0.00,-0.14,7.54:0.00,6.36,3.33:0.00,0.00,0.90:0.00,0.00,0.98:0.00,0.00,0.97:22,57,33:141.0,211.0,192.2:0,0,0:0,0,0:93,127,85:31,10,47:0,3,43:chr2 g.87576022A>C (intergenic),chr2 g.87576022A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87576081 . A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;NP=74 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:2:5:141:16.45:11.43:5.02:1.00:1.00:1.00:58:127.2:0:0:37:104:10:chr2 g.87576080A>G (intergenic),chr2 g.87576080A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87576086 . T C 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;NP=2;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:C,T:8:7:0:0:4,4:136,107:13.11,0.00:10.13,0.00:2.98,0.00:0.99,0.00:0.99,0.00:0.51,0.00:53,60:132.0,104.8:0,2:0,0:47,35:92,105:10,5:chr2 g.87576085T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87576231 rs62145317 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3516,G/0.6484;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:6:0:0:8:232:26.98:14.16:12.82:1.00:1.00:1.00:59:122.9:0:0:99:30:17:chr2 g.87576230A>G (intergenic),chr2 g.87576230A>G (intergenic):0.35,0.35:NOT_FOUND,NOT_FOUND 2 87623754 rs111207298 C T 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=138 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,G,T,D:9:6:0:1:2,1,5,1:68,19,131,34:0.00,1.33,13.48,2.82:0.00,1.33,4.84,2.82:0.00,0.00,8.64,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.92,0.00:40,51,60,43:252.0,121.0,131.2,101.0:0,0,0,0:0,0,0,0:18,24,45,19:122,125,106,125:11,0,2,0:-,chr2 g.87623753C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87623779 rs111207300 C A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,C:14:9:0:0:3,11:84,329:6.68,0.00:0.33,0.00:6.35,0.00:0.56,0.00:0.84,0.00:0.87,0.00:57,60:129.0,154.7:0,2:0,0:72,39:52,104:0,17:chr2 g.87623778C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87623801 rs7425575 C A 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=697 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,C:16:10:0:0:11,5:356,143:36.56,0.00:12.94,0.00:23.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,43:115.7,217.0:0,0:0,0:71,53:78,82:23,11:chr2 g.87623800C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87623804 rs62653904 A G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,C,G,T:16:10:0:0:10,1,4,1:295,12,138,8:0.00,0.29,12.05,0.01:0.00,-0.11,6.25,0.17:0.00,0.40,5.80,-0.17:0.00,0.00,0.75,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.59,0.00:60,5,51,59:112.7,108.0,220.8,98.0:0,0,0,0:0,0,0,0:44,95,50,47:107,46,77,104:32,0,7,0:-,chr2 g.87623803A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87623859 rs111207306 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,C,T,I:14:9:2:0:1,8,4,1:13,258,106,56:0.44,0.00,9.13,1.27:0.62,0.00,4.78,2.81:-0.18,0.00,4.35,-1.53:0.00,0.00,0.76,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.95,0.00:11,60,52,54:276.0,114.8,169.5,112.0:0,0,0,1:0,0,0,0:100,99,115,40:26,50,19,111:0,27,8,16:-,chr2 g.87623858C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87623905 . T A 9 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;NP=260;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,T:13:4:0:0:3,10:103,335:8.68,0.00:-0.23,0.00:8.91,0.00:0.58,0.00:0.66,0.00:0.58,0.00:54,60:231.0,121.2:0,0:0,0:129,101:-2,37:2,38:chr2 g.87623904T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87623933 rs7425589 C G 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=204;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,G:7:1:0:0:2,5:44,173:0.00,17.90:0.00,1.97:0.00,15.93:0.00,0.98:0.00,0.81:0.00,0.98:60,60:163.0,119.2:0,0:0,0:92,123:42,28:24,17:-,chr2 g.87623932C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87623976 rs554323063 C A 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4926,A/0.5074;NP=4;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,C:4:1:0:0:2,2:66,63:6.35,0.00:3.48,0.00:2.87,0.00:0.51,0.00:0.67,0.00:0.89,0.00:60,40:119.0,81.0:0,0:0,0:72,135:48,13:38,14:chr2 g.87623975C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87625438 . CG C 7 nt VT=DEL;SST=Single;DP=4;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CG,C:4:4:0:4:1,3:32,65:0.00,6.87:0.00,3.62:0.00,3.25:0.00,0.85:0.00,0.85:0.00,0.95:57,55:64.0,174.3:0,0:0,0:9,54:142,93:0,9:-,chr2 g.87625439delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87625440 . G A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:5:5:0:0:3,2:104,67:10.37,0.00:6.61,0.00:3.75,0.00:0.78,0.00:0.78,0.00:0.87,0.00:51,57:184.3,132.5:0,1:0,0:64,33:74,100:8,22:chr2 g.87625439G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87625585 . A C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,C:6:1:0:0:3,3:91,101:0.00,9.73:0.00,-0.30:0.00,10.03:0.00,0.98:0.00,0.67:0.00,0.96:49,44:63.7,83.7:0,0:0,0:96,116:55,31:26,4:-,chr2 g.87625584A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87625679 . G GCTA 8 nt VT=INS;SST=Single;DP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,G,GCTA:5:4:3:0:1,1,3:35,35,79:3.18,0.00,8.23:1.59,0.00,3.51:1.59,0.00,4.73:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.78:5,56,60:207.0,166.0,71.0:0,0,0:0,0,0:33,32,51:79,104,86:0,0,21:-,chr2 g.87625679_87625680insCTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87625682 . C CA 7 nt VT=INS;SST=Single;DP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,C,CA:5:4:3:0:1,1,3:30,33,63:2.68,0.00,6.63:1.34,0.00,2.70:1.34,0.00,3.92:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.78:56,5,60:166.0,180.0,68.7:0,0,0:0,0,0:35,36,71:101,76,69:0,0,12:-,chr2 g.87625682_87625683insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87625683 . C A 19 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:170:19.38:7.80:11.58:1.00:1.00:1.00:60:117.2:4:0:38:78:2:chr2 g.87625682C>A (intergenic),chr2 g.87625682C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87625690 . C CA 12 nt VT=INS;SST=Single;DP=4;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:CA:4:3:4:1:4:100:11.86:5.21:6.65:1.00:1.00:1.00:60:81.5:0:0:62:76:18:chr2 g.87625690_87625691insA (intergenic),chr2 g.87625690_87625691insA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87642024 rs62654343 T C 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=259 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:4:0:1:6:210:23.86:16.11:7.75:1.00:1.00:1.00:56:175.3:0:0:36:114:4:chr2 g.87642023T>C (intergenic),chr2 g.87642023T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87642057 rs62654344 T G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=219 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:G,T:8:5:0:0:7,1:213,34:23.30,0.00:13.32,0.00:9.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,40:184.0,0.0:0,0:0,0:67,138:84,8:9,0:chr2 g.87642056T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87642065 rs111207331 C A 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=164 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:5:0:0:7:237:27.04:11.68:15.36:1.00:1.00:1.00:56:184.0:0:0:75:76:9:chr2 g.87642064C>A (intergenic),chr2 g.87642064C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87643889 rs140420504 C A 11 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:3:0:0:4:90:10.84:9.20:1.65:1.00:1.00:1.00:40:107.5:0:0:83:67:20:chr2 g.87643888C>A (intergenic),chr2 g.87643888C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87644409 rs62644973 C A 7 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,C:4:4:0:0:2,2:68,70:6.55,0.00:4.76,0.00:1.79,0.00:0.51,0.00:0.51,0.00:0.67,0.00:9,44:220.0,154.0:0,0:0,0:23,31:116,118:13,2:chr2 g.87644408C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87644471 rs62644975 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:5:5:0:0:1,4:33,104:0.00,11.20:0.00,7.27:0.00,3.93:0.00,0.96:0.00,0.96:0.00,0.97:44,27:98.0,182.8:0,0:0,0:91,83:59,54:0,13:-,chr2 g.87644470C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87644475 rs62644976 T C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:5:5:0:0:4,1:126,36:13.42,0.00:9.44,0.00:3.98,0.00:0.96,0.00:0.96,0.00:0.97,0.00:27,44:173.2,98.0:0,0:0,0:87,95:50,55:13,0:chr2 g.87644474T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87655629 rs111207344 G C 16 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9982,C/0.001797;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:136:15.51:13.57:1.94:1.00:1.00:1.00:60:134.0:0:0:24:94:4:chr2 g.87655628G>C (intergenic),chr2 g.87655628G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87655701 rs376257034 G C 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=216 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,G:9:8:0:0:3,6:79,212:6.83,0.00:3.91,0.00:2.92,0.00:0.64,0.00:0.94,0.00:0.92,0.00:60,60:139.7,132.3:0,0:0,0:96,86:53,54:1,32:chr2 g.87655700G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87655714 rs62645054 C A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=50 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,C:8:7:0:0:4,4:129,112:12.43,0.00:6.18,0.00:6.25,0.00:0.99,0.00:0.99,0.00:0.98,0.00:60,60:116.5,148.8:0,0:0,0:99,71:45,55:31,38:chr2 g.87655713C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87655722 rs62645055 T G 31 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=155 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:G,T:10:8:0:1:9,1:280,34:30.87,0.00:12.92,0.00:17.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:134.2,67.0:0,0:0,0:81,6:44,71:39,0:chr2 g.87655721T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87655798 rs111207346 G C 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=94 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:3:0:0:6:204:23.26:5.97:17.30:1.00:1.00:1.00:60:101.2:0:0:92:33:23:chr2 g.87655797G>C (intergenic),chr2 g.87655797G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87655821 rs142978658 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=60 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T:6:3:0:0:2,4:72,89:0.00,9.09:0.00,2.35:0.00,6.74:0.00,0.93:0.00,0.97:0.00,0.93:46,53:189.0,98.2:0,0:0,0:31,100:63,31:11,9:-,chr2 g.87655820C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 87655853 rs62645058 T C 15 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:132:15.11:1.89:13.22:1.00:1.00:1.00:49:158.0:0:0:97:23:25:chr2 g.87655852T>C (intergenic),chr2 g.87655852T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 87866639 . G C 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;NP=298;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:C,G:30:9:0:0:3,27:104,880:7.60,0.00:-0.27,0.00:7.87,0.00:0.43,0.00:0.56,0.00:0.86,0.00:27,52:34.7,10.0:0,0:0,0:130,98:19,52:1,29:chr2 g.87866638G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 87866770 rs62139170 T C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:7:0:0:0:4,3:141,97:13.93,0.00:0.00,0.00:13.93,0.00:0.90,0.00:0.00,0.00:0.90,0.00:55,60:79.8,0.0:0,0:0,0:86,70:62,81:35,3:chr2 g.87866769T>C (intergenic),-:0.77,-:NOT_FOUND,- 2 88004094 rs572157783 C CG 47 lc VT=INS;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.997,CG/0.002995;PC=0.998;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CG:94:47:33:0:61,33:2000,577:0.00,46.51:0.00,5.37:0.00,41.14:0.00,1.00:0.00,1.00:0.00,1.00:60,40:3.2,36.5:0,0:0,0:77,111:74,39:34,22:-,XM_003118862.2(LOC730268) c.445N>G (p.?149V):-,NOT_FOUND:-,NOT_FOUND 2 88004106 rs201545151 G A 89 lc VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.9537,A/0.04633;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:38:0:0:31,58:988,1869:88.60,0.00:5.90,0.00:82.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:40.9,2.8:0,0:0,0:109,77:40,73:19,40:XM_003118862.2(LOC730268) c.457G>A (p.Val153Ile),-:NOT_FOUND,-:NOT_FOUND,- 2 88004120 . G . . NT END=88005145;NT GT ./. 2 88004227 . T A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;NP=109 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:A,T:22:3:0:0:5,17:173,563:14.57,0.00:-0.22,0.00:14.79,0.00:0.84,0.00:0.58,0.00:0.98,0.00:48,60:70.4,9.8:0,0:0,0:54,88:96,63:11,33:XM_003118862.2(LOC730268) c.474+104T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 88004236 rs189775362 T G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:G,T:23:2:0:0:5,18:139,551:11.07,0.00:-0.21,0.00:11.28,0.00:0.84,0.00:0.49,0.00:0.98,0.00:48,60:70.4,11.2:0,0:0,0:63,93:87,56:11,32:XM_003118862.2(LOC730268) c.474+113T>G,-:0.01,-:NOT_FOUND,- 2 88005018 rs551299163 GTT G 18 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GTT/0.7642,G/0.2358;NP=3;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:2:GTT,I,G:8:8:1:6:1,1,6:33,33,165:0.00,2.82,17.96:0.00,2.82,17.96:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:40,40,40:0.0,0.0,46.5:0,0,0:0,0,0:134,47,22:17,103,127:0,0,6:-,XM_003118862.2(LOC730268) c.475-383_475-382delTT:-,NOT_FOUND:-,NOT_FOUND 2 88005081 rs371504307 A G 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,G:11:11:0:0:4,7:111,183:0.00,18.47:0.00,18.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:3.0,44.0:0,0:0,0:31,81:119,69:19,12:-,XM_003118862.2(LOC730268) c.475-321A>G:-,NOT_FOUND:-,NOT_FOUND 2 88005490 . G . . NT END=88007280;NT GT ./. 2 88005546 rs62140484 T C 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.751,C/0.249;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:3:0:0:10,19:319,587:28.56,0.00:4.84,0.00:23.72,0.00:1.00,0.00:0.74,0.00:1.00,0.00:40,42:38.0,3.3:0,0:0,0:127,104:23,45:18,22:XM_003118862.2(LOC730268) c.562+57T>C,-:0.09,-:NOT_FOUND,- 2 88007430 . G . . NT END=88012877;NT GT ./. 2 88007697 rs377587446 T C 6 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:4:0:0:0:2,2:67,60:6.45,0.00:0.00,0.00:6.45,0.00:0.51,0.00:0.00,0.00:0.51,0.00:9,27:39.0,0.0:0,0:0,0:88,118:62,32:23,26:XM_003118862.2(LOC730268) c.711+268T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 88012957 . G . . NT END=88013566;NT GT ./. 2 88013604 . G . . NT END=88013697;NT GT ./. 2 88013719 rs199800308 G A 14 lc VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:47:23:0:0:6,41:188,1339:13.87,0.00:2.16,0.00:11.71,0.00:0.86,0.00:0.90,0.00:0.97,0.00:27,43:41.8,1.9:0,0:0,0:135,61:16,88:7,29:XM_003118862.2(LOC730268) c.849G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 88013769 . G . . NT END=88016130;NT GT ./. 2 88016310 . G . . NT END=88019325;NT GT ./. 2 88019541 . G . . NT END=88025455;NT GT ./. 2 88025728 . G . . NT END=88031905;NT GT ./. 2 88032141 . G . . NT END=88035192;NT GT ./. 2 88035285 . G . . NT END=88037236;NT GT ./. 2 88037372 . G . . NT END=88037541;NT GT ./. 2 88037625 . G . . NT END=88045921;NT GT ./. 2 88037653 rs2674104 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.778,G/0.222;NP=211 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,G:16:11:0:0:10,6:312,164:0.00,14.66:0.00,11.83:0.00,2.83:0.00,0.95:0.00,0.99:0.00,0.90:40,40:5.5,47.0:0,0:0,0:121,126:29,25:22,17:-,XM_003118862.2(LOC730268) c.2228+29A>G:-,NOT_FOUND:-,NOT_FOUND 2 88045989 . T . . NT END=88047672;NT GT ./. 2 88047722 . G . . NT END=88051765;NT GT ./. 2 88051902 . G . . NT END=88053046;NT GT ./. 2 88053153 . A . . NT END=88071687;NT GT ./. 2 88056189 rs201598440 A T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=57;Gene=PLGLB2/NM_002665.4/1;CC=c.*2-150A>T;VC=Intron;Gene=PLGLB1/NM_001032392.2/1;CC=c.*2-150A>T;VC=Intron;Gene=RGPD1/NM_001024457.3/1;CC=c.*722T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,T:7:7:0:0:4,3:137,104:0.00,9.76:0.00,9.76:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:27,27:0.0,38.3:0,0:0,0:39,40:112,111:23,10:-,NM_002665.4(PLGLB2) c.*2-150A>T:-,NOT_FOUND:-,NOT_FOUND 2 88056464 rs11557204 T C 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=916;PC=0.672;Gene=PLGLB2/NM_002665.4/1;CC=c.*127T>C;VC=3UTR;Gene=PLGLB1/NM_001032392.2/1;CC=c.*127T>C;VC=3UTR;Gene=RGPD1/NM_001024457.3/1;CC=c.*447A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:17:0:0:14,22:451,729:41.33,0.00:15.58,0.00:25.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,42:34.1,3.7:0,0:0,0:81,75:70,76:22,32:NM_002665.4(PLGLB2) c.*127T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 88058301 rs200838852 C T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=12;PC=0.017;Gene=PLGLB2/NM_002665.4/1;CC=c.*1964C>T;VC=3UTR;Gene=PLGLB1/NM_001032392.2/1;CC=c.*1964C>T;VC=3UTR;Gene=RGPD1/NM_001024457.3/1;CC=c.5213-1356G>A;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.5237-1356G>A;VC=Intron;DM=RGPD1/GRIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:13:0:0:11,8:333,265:0.00,24.73:0.00,13.28:0.00,11.44:0.00,0.99:0.00,1.00:0.00,0.99:40,41:4.1,102.0:0,0:0,0:94,50:57,101:32,23:-,NM_002665.4(PLGLB2) c.*1964C>T:-,NOT_FOUND:-,NOT_FOUND 2 88058306 rs201794237 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=4;Gene=PLGLB2/NM_002665.4/1;CC=c.*1969C>T;VC=3UTR;Gene=PLGLB1/NM_001032392.2/1;CC=c.*1969C>T;VC=3UTR;Gene=RGPD1/NM_001024457.3/1;CC=c.5213-1361G>A;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.5237-1361G>A;VC=Intron;DM=RGPD1/GRIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:16:0:0:14,8:453,255:0.00,23.05:0.00,11.90:0.00,11.15:0.00,0.99:0.00,1.00:0.00,0.99:40,41:4.1,93.4:0,0:0,0:71,77:79,73:40,29:-,NM_002665.4(PLGLB2) c.*1969C>T:-,NOT_FOUND:-,NOT_FOUND 2 88058373 rs200487078 T A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=516;PC=1.000;Gene=PLGLB2/NM_002665.4/1;CC=c.*2036T>A;VC=3UTR;Gene=PLGLB1/NM_001032392.2/1;CC=c.*2036T>A;VC=3UTR;Gene=RGPD1/NM_001024457.3/1;CC=c.5213-1428A>T;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.5237-1428A>T;VC=Intron;DM=RGPD1/GRIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:10:0:0:7,17:220,581:19.04,0.00:5.60,0.00:13.44,0.00:0.97,0.00:0.94,0.00:1.00,0.00:40,40:87.7,1.2:0,0:0,0:106,70:45,80:23,13:NM_002665.4(PLGLB2) c.*2036T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 88071394 rs200711534 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.005;Gene=RGPD1/NM_001024457.3/1;CC=c.5212+294C>T;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.5236+294C>T;VC=Intron;DM=RGPD1/GRIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,G:16:16:0:0:6,10:179,290:16.17,0.00:16.17,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:27,27:43.5,10.2:0,0:0,0:17,40:132,110:14,11:NM_001078170.2(RGPD2) c.5236+294C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 88071884 . C . . NT END=88074462;NT GT ./. 2 88074603 . C . . NT END=88077646;NT GT ./. 2 88078299 . C . . NT END=88080622;NT GT ./. 2 88080757 . C . . NT END=88081642;NT GT ./. 2 88083784 rs199618447 G A 44 lc VT=SNV;PN=C;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.992;Gene=RGPD1/NM_001024457.3/1;CC=c.2735C>T;ProtCh=p.S912L;VC=Missense;Gene=RGPD2/NM_001078170.2/1;CC=c.2759C>T;ProtCh=p.S920L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:101:101:0:0:17,83,1:558,2281,13:44.17,0.00,-0.17:44.17,0.00,-0.17:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:27,27,25:64.0,13.5,18.0:0,0,0:0,0,0:46,41,128:104,110,23:31,25,0:NM_001078170.2(RGPD2) c.2759C>T (p.Ser920Leu),-:NOT_FOUND,-:NOT_FOUND,- 2 88083849 rs200044571 T C 123 lc VT=SNV;PN=A;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=NA;NP=23;PC=0.072;Gene=RGPD1/NM_001024457.3/1;CC=c.2670A>G;ProtCh=p.E890=;VC=Silent;Gene=RGPD2/NM_001078170.2/1;CC=c.2694A>G;ProtCh=p.E898=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:106:106:0:0:1,41,64:11,1344,2069:-0.14,123.46,0.00:-0.14,123.46,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:24,27,27:55.0,49.5,6.0:0,0,0:0,0,0:122,89,82:28,60,68:0,24,18:NM_001078170.2(RGPD2) c.2694A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 88083867 . C . . NT END=88084593;NT GT ./. 2 88084412 rs377547325 T C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1;Gene=RGPD1/NM_001024457.3/1;CC=c.2652+182A>G;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.2676+182A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:C,T:23:23:0:0:4,19:112,600:8.52,0.00:8.52,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:34,37:47.8,14.8:0,0:0,0:24,41:126,110:10,31:NM_001078170.2(RGPD2) c.2676+182A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 88084689 . C . . NT END=88088240;NT GT ./. 2 88088359 . C . . NT END=88091508;NT GT ./. 2 88091353 rs190337827 T C 35 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.243,C/0.757;PC=0.016;Gene=RGPD1/NM_001024457.3/1;CC=c.2439+156A>G;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.2463+156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:312:35.49:35.49:0.00:1.00:1.00:0.00:9:50.3:0:0:36:115:15:NM_001078170.2(RGPD2) c.2463+156A>G,NM_001078170.2(RGPD2) c.2463+156A>G:0.26,0.26:NOT_FOUND,NOT_FOUND 2 88091593 . C . . NT END=88091680;NT GT ./. 2 88091861 . C . . NT END=88092740;NT GT ./. 2 88092888 . C . . NT END=88093149;NT GT ./. 2 88093288 . C . . NT END=88093553;NT GT ./. 2 88093713 . C . . NT END=88094635;NT GT ./. 2 88094760 . C . . NT END=88094926;NT GT ./. 2 88095103 . C . . NT END=88095185;NT GT ./. 2 88095368 . C . . NT END=88097483;NT GT ./. 2 88097694 . C . . NT END=88100123;NT GT ./. 2 88100212 . C . . NT END=88106214;NT GT ./. 2 88106411 . C . . NT END=88111003;NT GT ./. 2 88111150 . C . . NT END=88111494;NT GT ./. 2 88111726 . C . . NT END=88115787;NT GT ./. 2 88115941 . C . . NT END=88116384;NT GT ./. 2 88116497 . C . . NT END=88118077;NT GT ./. 2 88117987 rs62140525 T C 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=169;Gene=RGPD1/NM_001024457.3/1;CC=c.113+91A>G;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.137+91A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:74:74:0:0:1,25,48:13,800,1624:-0.04,71.56,0.00:-0.04,71.56,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:27,27,27:68.0,46.5,4.5:0,0,0:0,0,0:131,30,48:20,120,100:0,27,34:NM_001078170.2(RGPD2) c.137+91A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 88118143 . C . . NT END=88125176;NT GT ./. 2 88125093 . G C 91 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=138;NP=5;PC=0.008;Gene=RGPD1/NM_001024457.3/1;CC=c.49-6951C>G;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.72+84C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:138:138:0:0:33,105:1079,2998:90.73,0.00:89.92,0.00:0.81,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:110.8,24.7:0,0:0,0:45,21:95,129:10,11:NM_001078170.2(RGPD2) c.72+84C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 88125115 . G C 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=181;NP=7;PC=0.003;Gene=RGPD1/NM_001024457.3/1;CC=c.49-6973C>G;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.72+62C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:181:181:0:0:33,148:1063,4375:84.76,0.00:74.15,0.00:10.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:111.7,19.0:0,0:0,0:66,28:74,121:9,16:NM_001078170.2(RGPD2) c.72+62C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 88125137 . G C 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=225;NP=7;Gene=RGPD1/NM_001024457.3/1;CC=c.49-6995C>G;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.72+40C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:225:225:0:0:2,32,190,1:29,1056,5413,31:-0.25,81.22,0.00,0.88:-0.12,66.06,0.00,0.94:-0.13,15.16,0.00,-0.06:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:42,60,60,42:93.0,108.3,16.7,31.0:0,0,0,0:0,0,0,0:65,89,35,0:74,50,113,151:8,11,21,0:NM_001078170.2(RGPD2) c.72+40C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 88125234 rs550032815 T C 88 sb,lc VT=SNV;PN=C;NN=T;SST=Single;DP=417;DB;DBA=NA;PAF=NA;PC=1.000;Gene=RGPD1/NM_001024457.3/1;CC=c.49-7092A>G;VC=Intron;Gene=RGPD2/NM_001078170.2/1;CC=c.15A>G;ProtCh=p.K5=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:417:335:0:0:38,379:1250,12793:88.15,0.00:-7.80,0.00:95.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,60:66.8,6.6:0,0:0,0:110,71:40,69:24,32:NM_001078170.2(RGPD2) c.15A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 88125294 . C . . NT END=88327302;NT GT ./. 2 88260782 rs72847738 G C 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.9008,C/0.09924;PC=0.001;Gene=RGPD1/NM_001024457.3/1;CC=c.48+24464C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:44:0:0:25,26:801,907:76.64,0.00:47.48,0.00:29.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.7,1.6:0,0:0,0:51,26:98,114:17,18:chr2 g.88260781G>C (intergenic),-:0.11,-:NOT_FOUND,- 2 88272193 rs3755544 G A 176 nt VT=SNV;PN=C;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.2897,A/0.7103;NP=947;PC=0.330;Gene=RGPD1/NM_001024457.3/1;CC=c.48+13053C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:110:88:0:0:55,55:1828,1640:175.97,0.00:98.73,0.00:77.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,52:70.1,12.7:0,0:0,0:39,42:109,108:22,26:chr2 g.88272192G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 88272233 rs3755545 C T 197 nt VT=SNV;PN=C;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.3686,T/0.6314;NP=2783;PC=0.997;Gene=RGPD1/NM_001024457.3/1;CC=c.48+13013G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:133:87:0:0:1,69,63:10,2126,2064:-0.16,0.00,196.76:-0.07,0.00,87.38:-0.09,0.00,109.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,53,60:138.0,10.5,65.4:0,0,0:0,0,0:91,67,66:57,82,82:0,32,23:-,chr2 g.88272232C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 88272604 rs545636501 C T 95 nt VT=SNV;PN=G;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.9119,T/0.08806;NP=614;PC=0.282;Gene=RGPD1/NM_001024457.3/1;CC=c.48+12642G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:94:11:0:0:60,2,32:1706,21,1050:0.00,-0.12,94.50:0.00,0.10,10.97:0.00,-0.21,83.53:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:43,27,42:19.8,110.0,43.3:0,0,0:0,0,0:102,81,59:46,68,91:38,50,41:-,chr2 g.88272603C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 88272798 rs62138194 C T 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=1694;PC=0.002;Gene=RGPD1/NM_001024457.3/1;CC=c.48+12448G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:48:0:0:43,28:1278,827:0.00,75.36:0.00,41.53:0.00,33.83:0.00,1.00:0.00,1.00:0.00,1.00:51,53:9.6,70.9:0,0:0,0:75,74:76,71:50,23:-,chr2 g.88272797C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 88272998 rs144217333 C A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.9836,A/0.01637;PC=0.182;Gene=RGPD1/NM_001024457.3/1;CC=c.48+12248G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,C:35:15:0:0:6,29:186,857:14.52,0.00:0.19,0.00:14.33,0.00:0.89,0.00:0.89,0.00:0.99,0.00:40,50:35.0,14.6:0,0:0,0:137,99:14,40:4,35:chr2 g.88272997C>A (intergenic),-:0.12,-:NOT_FOUND,- 2 88273176 rs376796546 G A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9044,A/0.09565;NP=14;PC=0.527;Gene=RGPD1/NM_001024457.3/1;CC=c.48+12070C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C,G:5:0:0:0:3,1,1:105,6,33:10.87,0.32,0.00:0.00,0.00,0.00:10.87,0.32,0.00:0.78,0.00,0.00:0.00,0.00,0.00:0.78,0.00,0.00:27,27,27:35.0,57.0,0.0:0,0,0:0,0,0:133,125,129:18,-16,21:1,0,0:chr2 g.88273175G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 88280273 rs200180888 T C 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.997;Gene=RGPD1/NM_001024457.3/1;CC=c.48+4973A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:19:0:0:9,14:283,419:25.88,0.00:17.96,0.00:7.93,0.00:1.00,0.00:1.00,0.00:0.97,0.00:40,40:36.2,10.3:0,0:0,0:74,44:77,106:43,23:chr2 g.88280272T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 88285640 rs6755610 G A 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.072 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:273:31.12:0.00:31.12:1.00:0.00:1.00:50:79.1:0:0:126:23:14:chr2 g.88285639G>A (intergenic),chr2 g.88285639G>A (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 2 88288834 rs62138214 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:1:0:0:6:189:21.76:3.88:17.88:1.00:1.00:1.00:40:54.2:0:0:58:90:28:chr2 g.88288833C>T (intergenic),chr2 g.88288833C>T (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 2 88288923 rs4021869 C G 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.08267,G/0.9173;PC=0.105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:5:0:0:9:284:32.69:18.78:13.91:1.00:1.00:1.00:60:47.7:0:0:20:128:19:chr2 g.88288922C>G (intergenic),chr2 g.88288922C>G (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 2 88289207 rs5014698 G A 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.09125,A/0.9087;PC=0.032 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:A,G:20:13:0:0:19,1:616,10:69.17,0.00:43.19,0.00:25.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:48,60:38.1,126.0:0,0:0,0:44,84:107,33:31,0:chr2 g.88289206G>A (intergenic),chr2 g.88289206G>A (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 2 88289368 rs10209326 G A 75 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.08486,A/0.9151;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:1:0:0:21:653:75.22:1.86:73.36:1.00:1.00:1.00:60:48.2:0:0:85:66:17:chr2 g.88289367G>A (intergenic),chr2 g.88289367G>A (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 88292078 rs62138234 T C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.08486,C/0.9151;NP=436;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:265:30.32:30.32:0.00:1.00:1.00:0.00:40:42.2:0:0:55:95:41:chr2 g.88292077T>C (intergenic),chr2 g.88292077T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 88292302 rs62138235 A G 96 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=2674;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:18:0:0:28:826:95.87:60.45:35.42:1.00:1.00:1.00:43:40.4:0:0:95:55:43:chr2 g.88292301A>G (intergenic),chr2 g.88292301A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 88292394 rs3732347 C G 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.382,G/0.618;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:31:12:0:0:17,13,1:531,437,10:0.00,41.00,0.02:0.00,9.56,-0.09:0.00,31.43,0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:55,55,54:19.4,46.2,23.0:0,0,0:0,0,0:87,64,2:63,82,149:15,34,0:-,chr2 g.88292393C>G (intergenic):-,0.63:-,NOT_FOUND 2 88327464 rs116606730 C T 112 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.9978,T/0.002196;NP=11;Gene=KRCC1/NM_001304526.1/1;CC=c.619G>A;ProtCh=p.V207I;VC=Missense;Gene=KRCC1/NM_016618.2/0;CC=c.619G>A;ProtCh=p.V207I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:56:0:0:45,39:1330,1184:0.00,111.81:0.00,53.66:0.00,58.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,44.4:0,0:0,0:65,76:81,75:37,33:-,NM_016618.1(KRCC1) c.619G>A (p.Val207Ile):-,0.0009:-,0.002076 2 88328083 . T . . NT END=88367383;NT GT ./. 2 88328163 rs68101803 C CTT 10 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.875,T/0.125;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.813;Gene=KRCC1/NM_001304526.1/1;CC=c.-22-60_-22-59insAA;VC=Intron;Gene=KRCC1/NM_016618.2/0;CC=c.-22-60_-22-59insAA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,CTT,D:23:4:7:2:17,4,2:509,209,57:0.00,9.73,3.84:0.00,-0.18,2.68:0.00,9.91,1.17:0.00,0.67,0.00:0.00,0.50,0.00:0.00,0.94,0.00:60,60,60:19.3,60.8,44.5:0,3,0:0,0,0:137,89,76:13,62,73:9,25,20:-,NM_016618.1(KRCC1) c.-22-60_-22-59insAA:-,NOT_FOUND:-,NOT_FOUND 2 88328183 rs60603649 T TC 8 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.89,C/0.11;DB;DBA=NA;PAF=NA;NP=1;NP=15;NP=36;PC=0.002;Gene=KRCC1/NM_001304526.1/1;CC=c.-22-80_-22-79insG;VC=Intron;Gene=KRCC1/NM_016618.2/0;CC=c.-22-80_-22-79insG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,T,TC:21:3:3:0:3,15,3:66,474,98:4.52,0.00,7.70:0.99,0.00,1.45:3.53,0.00,6.24:0.00,0.00,0.49:0.00,0.00,0.42:0.00,0.00,0.89:60,60,60:53.3,39.3,15.3:0,0,0:0,0,0:6,112,55:144,39,95:4,34,36:-,NM_016618.1(KRCC1) c.-22-80_-22-79insG:-,NOT_FOUND:-,NOT_FOUND 2 88328208 rs12328217 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.2792,A/0.7208;Gene=KRCC1/NM_001304526.1/1;CC=c.-22-104C>T;VC=Intron;Gene=KRCC1/NM_016618.2/0;CC=c.-22-104C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:1:0:0:9,7:247,198:24.23,0.00:-0.36,0.00:24.59,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:38.1,29.4:0,0:0,0:81,45:70,105:37,29:NM_016618.1(KRCC1) c.-22-104C>T,-:0.71,-:NOT_FOUND,- 2 88367176 rs34109539 C G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.883,G/0.117;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:20:0:0:11,9:372,252:0.00,23.47:0.00,23.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.7,78.9:0,0:0,0:58,57:91,94:33,32:-,NM_198274.3(SMYD1) c.-85-u123C>G:-,0.13:-,NOT_FOUND 2 88367521 . G . . NT END=88383834;NT GT ./. 2 88384012 . G . . NT END=88387380;NT GT ./. 2 88384084 rs920578 C T 202 nt VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.8638,T/0.1362;Gene=SMYD1/NM_198274.3/1;CC=c.314+73C>T;VC=Intron;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:A,T:57:9:0:0:1,56:10,1754:0.17,201.52:0.00,16.61:0.17,184.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:115.0,40.9:0,0:0,0:42,107:109,43:0,31:NM_198274.3(SMYD1) c.314+73C>T,NM_198274.3(SMYD1) c.314+73C>T:0.14,0.14:NOT_FOUND,NOT_FOUND 2 88387557 rs1542087 A C 375 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=236;DB;DBA=NA;PAF=A/0.8634,C/0.1366;PC=1.000;Gene=SMYD1/NM_198274.3/1;CC=c.491A>C;ProtCh=p.Q164P;VC=Missense;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:236:133:0:0:110,126:3738,3857:0.00,374.73:0.00,132.38:0.00,242.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,36.4:0,0:0,0:83,93:61,48:34,29:-,NM_198274.3(SMYD1) c.491A>C (p.Gln164Pro):-,0.11:-,0.151315 2 88387595 . G . . NT END=88390530;NT GT ./. 2 88390543 rs143639398 G A 106 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SMYD1/NM_198274.3/1;CC=c.541G>A;ProtCh=p.G181S;VC=Missense;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:62:0:0:34,43:1131,1282:106.38,0.00:76.91,0.00:29.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,6.7:0,0:0,0:72,78:78,72:41,32:NM_198274.3(SMYD1) c.541G>A (p.Gly181Ser),-:0.0005,-:NOT_FOUND,- 2 88390662 . G . . NT END=88393035;NT GT ./. 2 88393075 . G . . NT END=88396113;NT GT ./. 2 88393254 rs2919850 T C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8772,C/0.1228;Gene=SMYD1/NM_198274.3/1;CC=c.698+180T>C;VC=Intron;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:C,T:10:0:0:0:4,6:131,175:12.09,0.00:0.00,0.00:12.09,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:32.8,5.3:0,0:0,0:99,87:50,62:23,23:NM_198274.3(SMYD1) c.698+180T>C,-:0.1,-:NOT_FOUND,- 2 88395989 rs2197077 G C 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.8874,C/0.1126;PC=0.145;Gene=SMYD1/NM_198274.3/1;CC=c.699-125G>C;VC=Intron;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:25:0:0:9,16:306,523:27.81,0.00:27.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:77.8,6.6:0,0:0,0:37,30:113,117:26,20:NM_198274.3(SMYD1) c.699-125G>C,-:0.09,-:NOT_FOUND,- 2 88396080 rs2919883 A C 99 nt VT=SNV;PN=G;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.6861,C/0.3139;Gene=SMYD1/NM_198274.3/1;CC=c.699-34A>C;VC=Intron;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:69:61:0:0:38,31:1191,1044:0.00,98.58:0.00,69.18:0.00,29.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,122.2:0,0:0,0:52,42:97,109:28,26:-,NM_198274.3(SMYD1) c.699-34A>C:-,0.31:-,0.378441 2 88396120 rs2919882 G A 137 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.6861,A/0.3139;PC=1.000;Gene=SMYD1/NM_198274.3/1;CC=c.705G>A;ProtCh=p.E235=;VC=Silent;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:73:0:0:46,46:1423,1470:136.52,0.00:86.90,0.00:49.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:118.3,2.3:0,0:0,0:53,72:92,76:25,28:NM_198274.3(SMYD1) c.705G>A (p.(=)),-:0.31,-:0.378056,- 2 88396123 rs2970912 C G 147 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.6861,G/0.3139;PC=0.998;Gene=SMYD1/NM_198274.3/1;CC=c.708C>G;ProtCh=p.L236=;VC=Silent;DM=SMYD1/SET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:95:75:0:0:1,48,46:7,1570,1530:-0.18,0.00,146.56:-0.10,0.00,92.41:-0.08,0.00,54.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:75.0,2.9,117.3:0,0,0:0,0,0:51,75,54:98,73,93:0,31,28:-,NM_198274.3(SMYD1) c.708C>G (p.(=)):-,0.31:-,0.37821 2 88396174 rs2919881 T C 176 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.6861,C/0.3139;PC=0.398;Gene=SMYD1/NM_198274.3/1;CC=c.759T>C;ProtCh=p.I253=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:105:79:0:0:58,47:1801,1467:176.28,0.00:107.71,0.00:68.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:102.5,2.2:0,0:0,0:85,87:64,64:30,37:NM_198274.3(SMYD1) c.759T>C (p.(=)),-:0.31,-:0.378902,- 2 88396304 . G . . NT END=88402576;NT GT ./. 2 88396348 rs62156964 G A 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.7985,A/0.2015;Gene=SMYD1/NM_198274.3/1;CC=c.888+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:17:0:0:24,30:789,900:74.25,0.00:13.31,0.00:60.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.5,17.8:0,0:0,0:118,96:32,55:16,30:NM_198274.3(SMYD1) c.888+45G>A,-:0.19,-:0.231739,- 2 88396358 rs62156965 C T 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.7989,T/0.2011;Gene=SMYD1/NM_198274.3/1;CC=c.888+55C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:14:0:0:29,19:881,597:0.00,54.77:0.00,10.77:0.00,43.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.6,67.5:0,0:0,0:102,123:48,28:29,11:-,NM_198274.3(SMYD1) c.888+55C>T:-,0.19:-,NOT_FOUND 2 88402511 rs1866946 C A 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.886,A/0.114;Gene=SMYD1/NM_198274.3/1;CC=c.889-66C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:25:21:0:0:11,14:358,484:33.60,0.00:24.87,0.00:8.73,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:65.6,8.1:0,0:0,0:48,30:103,119:21,11:NM_198274.3(SMYD1) c.889-66C>A,-:0.09,-:NOT_FOUND,- 2 88402560 rs894197 G A 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.8852,A/0.1148;Gene=SMYD1/NM_198274.3/1;CC=c.889-17G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:32:0:0:19,19:630,619:60.64,0.00:41.93,0.00:18.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.1,7.1:0,0:0,0:51,72:100,76:40,19:NM_198274.3(SMYD1) c.889-17G>A,-:0.09,-:0.126941,- 2 88402670 . G . . NT END=88405843;NT GT ./. 2 88402748 rs748226 G A 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8261,A/0.1739;Gene=SMYD1/NM_198274.3/1;CC=c.981+79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:2:0:0:8,9:242,237:22.93,0.00:5.50,0.00:17.43,0.00:0.99,0.00:0.77,0.00:1.00,0.00:60,60:49.2,49.0:0,0:0,0:93,101:58,40:41,36:NM_198274.3(SMYD1) c.981+79G>A,-:0.17,-:NOT_FOUND,- 2 88406008 . G . . NT END=88407889;NT GT ./. 2 88406108 rs2919862 C T 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.9191,T/0.08087;Gene=SMYD1/NM_198274.3/1;CC=c.1145+101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:3:0:0:11,18:353,565:0.00,56.66:0.00,3.61:0.00,53.05:0.00,1.00:0.00,0.95:0.00,1.00:60,60:7.4,40.3:0,0:0,0:98,117:53,34:15,24:-,NM_198274.3(SMYD1) c.1145+101C>T:-,0.06:-,NOT_FOUND 2 88407959 rs2970918 T C 199 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=T/0.6016,A/.,C/0.3984,G/.;PC=0.001;Gene=SMYD1/NM_198274.3/1;CC=c.1215T>C;ProtCh=p.H405=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:133:106:0:0:64,69:2086,2157:199.07,0.00:129.09,0.00:69.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,10.2:0,0:0,0:76,60:74,84:28,28:NM_198274.3(SMYD1) c.1215T>C (p.(=)),-:0.32,-:0.277487,- 2 88408059 . G . . NT END=88409872;NT GT ./. 2 88408172 rs2919858 A G 59 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.2244,G/0.7756;PC=0.012;Gene=SMYD1/NM_198274.3/1;CC=c.1314+114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:0:0:0:17,18:504,608:0.00,58.89:0.00,0.00:0.00,58.89:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.9,46.3:0,0:0,0:117,83:33,64:28,34:-,NM_198274.3(SMYD1) c.1314+114A>G:-,0.74:-,NOT_FOUND 2 88409717 rs200741830 T TGA 33 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=12;PC=0.017;Gene=SMYD1/NM_198274.3/1;CC=c.1315-153_1315-152insAG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TGA:41:39:12:0:1,28,12:25,777,378:1.08,0.00,32.95:1.10,0.00,30.23:-0.02,0.00,2.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.67:60,60,60:96.0,32.6,10.1:0,10,0:0,0,0:0,67,47:151,83,102:0,42,29:-,NM_198274.3(SMYD1) c.1315-156_1315-155insGA:-,0.7:-,NOT_FOUND 2 88409719 rs35206605 A AGTGT 16 idl,rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;NP=2;NP=4;Gene=SMYD1/NM_198274.3/1;CC=c.1315-120_1315-119insGTGT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,T,AGTGT,D:39:40:9:1:30,2,6,1:830,50,290,33:0.00,2.71,15.60,1.85:0.00,1.54,15.66,0.78:0.00,1.16,-0.07,1.07:0.00,0.00,0.87,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.42,0.00:60,60,60,60:26.2,84.0,31.8,0.0:12,0,3,0:0,0,0,0:76,37,37,27:74,112,114,122:41,31,18,0:-,NM_198274.3(SMYD1) c.1315-154_1315-153insGTGT:-,NOT_FOUND:-,NOT_FOUND 2 88409721 rs28575987 T A 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.033;Gene=SMYD1/NM_198274.3/1;CC=c.1315-152T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,G,T:42:40:0:1:7,1,34:211,9,978:16.33,-0.19,0.00:16.52,-0.16,0.00:-0.20,-0.03,0.00:0.94,0.00,0.00:1.00,0.00,0.00:0.47,0.00,0.00:60,60,60:39.6,45.0,24.8:0,1,20:0,0,0:115,82,52:35,42,98:6,0,32:NM_198274.3(SMYD1) c.1315-152T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 88410032 . G . . NT END=88422572;NT GT ./. 2 88410102 rs2289497 C G 136 nt VT=SNV;PN=T;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.2256,G/0.7744;Gene=SMYD1/NM_198274.3/1;CC=c.*71C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:87:19:0:0:43,44:1246,1407:0.00,135.59:0.00,13.17:0.00,122.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,53.4:0,0:0,0:109,94:42,56:22,31:-,NM_198274.3(SMYD1) c.*71C>G:-,0.74:-,NOT_FOUND 2 88410168 rs2289498 A G 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.2478,G/0.7522;Gene=SMYD1/NM_198274.3/1;CC=c.*137A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:1:0:0:15,25:462,814:0.00,81.81:0.00,-0.21:0.00,82.02:0.00,1.00:0.00,0.75:0.00,1.00:60,60:14.3,64.0:0,0:0,0:102,104:49,45:24,27:-,NM_198274.3(SMYD1) c.*137A>G:-,0.72:-,NOT_FOUND 2 88422624 . C . . NT END=88424012;NT GT ./. 2 88424066 rs2241883 T C 96 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.7768,C/0.2232;PC=0.001;Gene=FABP1/NM_001443.2/1;CC=c.280A>G;ProtCh=p.T94A;VC=Missense;DM=FABP1/Lipocalin_7;DM=FABP1/Lipocalin_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:43:0:0:29,31:1006,987:96.40,0.00:41.95,0.00:54.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,6.5:0,0:0,0:109,54:42,93:22,20:NM_001443.2(FABP1) c.280A>G (p.Thr94Ala),-:0.26,-:0.269875,- 2 88424106 . C . . NT END=88425694;NT GT ./. 2 88425868 . C . . NT END=88427469;NT GT ./. 2 88427537 . G . . NT END=88472669;NT GT ./. 2 88472791 rs4129190 G A 420 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.1316,A/0.8684;PC=1.000;Gene=THNSL2/NM_001244676.1/1;CC=c.122G>A;ProtCh=p.G41E;VC=Missense;Gene=THNSL2/NM_001244678.1/0;CC=c.-56-1977G>A;VC=Intron;Gene=THNSL2/NM_018271.4/0;CC=c.122G>A;ProtCh=p.G41E;VC=Missense;DM=THNSL2/Thr_synth_N;DM=THNSL2/Thr_synth_N;DM=THNSL2/Thr_synth_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:111:71:0:0:111:3669:419.73:187.26:232.47:1.00:1.00:1.00:60:41.1:0:0:84:64:30:NM_001244676.1(THNSL2) c.122G>A (p.Gly41Glu),NM_001244676.1(THNSL2) c.122G>A (p.Gly41Glu):0.86,0.86:0.876442,0.876442 2 88472894 . T . . NT END=88474157;NT GT ./. 2 88472925 rs4129189 A G 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.7841,G/0.2159;Gene=THNSL2/NM_001244676.1/1;CC=c.223+33A>G;VC=Intron;Gene=THNSL2/NM_001244678.1/0;CC=c.-56-1843A>G;VC=Intron;Gene=THNSL2/NM_018271.4/0;CC=c.223+33A>G;VC=Intron;DM=THNSL2/Thr_synth_N;DM=THNSL2/Thr_synth_N;DM=THNSL2/PALP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:33:4:0:0:18,14,1:610,413,11:0.00,38.43,0.07:0.00,7.29,-0.01:0.00,31.14,0.07:0.00,1.00,0.00:0.00,0.89,0.00:0.00,1.00,0.00:60,60,60:13.3,38.7,138.0:0,0,0:0,0,0:95,103,122:55,47,29:33,29,0:-,NM_001244676.1(THNSL2) c.223+33A>G:-,0.23:-,0.251961 2 88474354 . T . . NT END=88474767;NT GT ./. 2 88474370 rs2139100 A G 309 nt VT=SNV;PN=C;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.1298,G/0.8702;Gene=THNSL2/NM_001244676.1/1;CC=c.418+18A>G;VC=Intron;Gene=THNSL2/NM_001244678.1/0;CC=c.-56-398A>G;VC=Intron;Gene=THNSL2/NM_018271.4/0;CC=c.418+18A>G;VC=Intron;DM=THNSL2/PALP;DM=THNSL2/PALP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:85:38:0:0:2,83:21,2701:0.47,308.58:0.00,91.19:0.47,217.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:143.5,36.4:0,0:0,0:102,95:42,49:27,32:NM_001244676.1(THNSL2) c.418+18A>G,NM_001244676.1(THNSL2) c.418+18A>G:0.87,0.87:0.877979,0.877979 2 88474753 rs115656871 T C 83 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.992,C/0.007987;PC=0.530;Gene=THNSL2/NM_001244676.1/1;CC=c.419-15T>C;VC=Intron;Gene=THNSL2/NM_001244678.1/0;CC=c.-56-15T>C;VC=Intron;Gene=THNSL2/NM_018271.4/0;CC=c.419-15T>C;VC=Intron;DM=THNSL2/PALP;DM=THNSL2/PALP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:58:0:0:30,35:885,1170:83.23,0.00:66.84,0.00:16.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,6.9:0,0:0,0:33,65:111,77:23,26:NM_001244676.1(THNSL2) c.419-15T>C,-:0.01,-:0.014993,- 2 88474922 . T . . NT END=88478301;NT GT ./. 2 88475202 rs62157023 C A 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8478,A/0.1522;Gene=THNSL2/NM_001244676.1/1;CC=c.571+282C>A;VC=Intron;Gene=THNSL2/NM_001244678.1/0;CC=c.97+282C>A;VC=Intron;Gene=THNSL2/NM_018271.4/0;CC=c.571+282C>A;VC=Intron;DM=THNSL2/PALP;DM=THNSL2/PALP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,C:8:0:0:0:4,4:114,119:10.90,0.00:0.00,0.00:10.90,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:70.2,5.5:0,0:0,0:93,112:57,38:16,21:NM_001244676.1(THNSL2) c.571+282C>A,-:0.17,-:NOT_FOUND,- 2 88478534 . T . . NT END=88482217;NT GT ./. 2 88482368 . T . . NT END=88482466;NT GT ./. 2 88482594 . T . . NT END=88484846;NT GT ./. 2 88485244 . G . . NT END=88485416;NT GT ./. 2 88485392 rs1878810 G C 447 nt VT=SNV;PN=G;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.1228,C/0.8772;Gene=THNSL2/NM_001244676.1/1;CC=c.*34-25G>C;VC=Intron;Gene=THNSL2/NM_001244678.1/0;CC=c.604-25G>C;VC=Intron;Gene=THNSL2/NM_018271.4/0;CC=c.1230-25G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:119:87:0:0:119:3900:446.50:260.44:186.07:1.00:1.00:1.00:60:45.9:0:0:57:87:38:NM_001244676.1(THNSL2) c.*34-25G>C,NM_001244676.1(THNSL2) c.*34-25G>C:0.87,0.87:0.864453,0.864453 2 88485643 . C . . NT END=88747725;NT GT ./. 2 88496058 rs71378856 T TAC 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6963,TAC/0.3037,TACAC/.;DB;DBA=NA;PAF=T/0.6963,TAC/0.3037;DB;DBA=NA;PAF=T/0.6963,TAC/0.3037,TACAC/.;NP=1;NP=352;NP=9;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:T,TAC,D:6:6:3:1:2,3,1:61,99,34:0.00,9.83,2.94:0.00,9.98,2.98:0.00,-0.15,-0.04:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.67,0.00:60,60,60:0.0,3.0,0.0:0,0,0:0,0,0:137,27,67:13,99,84:10,8,0:-,chr2 g.88496058_88496059insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 88496184 rs4990616 A G 22 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3716,G/0.6284;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:188:21.60:1.32:20.29:1.00:1.00:1.00:60:31.3:0:0:80:71:29:chr2 g.88496183A>G (intergenic),chr2 g.88496183A>G (intergenic):0.64,0.64:NOT_FOUND,NOT_FOUND 2 88540402 rs66993236 A AAC 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=28;PC=0.020;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,AAC:7:6:4:0:3,4:102,126:0.00,12.43:0.00,9.67:0.00,2.77:0.00,0.90:0.00,0.99:0.00,0.93:60,60:29.3,11.0:0,0:0,0:70,59:64,82:8,9:-,chr2 g.88540402_88540403insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 88676798 . CTG C 7 rn VT=DEL;SST=Single;DP=4;NP=54;PC=0.071;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:CTG,C:4:2:0:2:2,2:66,68:0.00,6.55:0.00,1.64:0.00,4.91:0.00,0.51:0.00,0.79:0.00,0.51:60,60:0.0,0.0:0,0:0,0:105,49:44,91:6,24:-,chr2 g.88676799_88676800delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 88748349 . C . . NT END=88751413;NT GT ./. 2 88748390 rs4972212 A T 220 nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.4822,T/0.5178;Gene=FOXI3/NM_001135649.1/1;CC=c.640-42T>A;VC=Intron;DM=FOXI3/Forkhead GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:T:59:24:0:0:59:1918:219.87:61.24:158.63:1.00:1.00:1.00:60:40.2:0:0:88:58:27:NM_001135649.1(FOXI3) c.641-42T>A,NM_001135649.1(FOXI3) c.641-42T>A:0.49,0.49:0.509636,0.509636 2 88751751 rs11456039 A AG 693 PASS VT=INS;SST=Single;DP=197;DB;DBA=NA;PAF=NA;NP=313;PC=0.590;Gene=FOXI3/NM_001135649.1/1;CC=c.302dupC;ProtCh=p.S102Ffs*320;VC=FrameShiftIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,AG:197:126:194:0:3,194:80,6072:0.00,693.30:0.00,292.55:0.00,400.75:0.00,1.00:0.00,1.00:0.00,1.00:60,70:38.0,8.4:2,0:0,0:143,72:2,73:3,38:NM_001135649.1(FOXI3) c.303dupC (p.Phe102Leufs*77),NM_001135649.1(FOXI3) c.303dupC (p.Phe102Leufs*77):0.93,0.93:0.983871,0.983871 2 88752054 . G . . NT END=88825162;NT GT ./. 2 88825190 . G . . NT END=88825922;NT GT ./. 2 88825315 rs569544611 G GT 19 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;Gene=TEX37/NM_152670.2/1;CC=c.27+140dupT;VC=Intron;DM=TEX37/TSC21;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:18:1:7:1:10,7,1:315,208,30:0.00,19.14,1.98:0.00,-0.11,-0.01:0.00,19.25,1.99:0.00,0.98,0.00:0.00,0.59,0.00:0.00,0.98,0.00:60,60,60:11.4,9.6,0.0:0,0,0:0,0,0:96,66,121:53,85,30:27,21,0:-,NM_152670.2(TEX37) c.27+126_27+127insT:-,NOT_FOUND:-,NOT_FOUND 2 88825334 rs79102007 CAAG C 11 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=312;Gene=TEX37/NM_152670.2/1;CC=c.27+156_27+158delAGA;VC=Intron;DM=TEX37/TSC21;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:CAAG,C:15:0:0:4:11,4:361,131:0.00,11.23:0.00,0.00:0.00,11.23:0.00,0.76:0.00,0.00:0.00,0.76:60,60:10.4,16.8:0,0:0,0:115,83:35,68:25,6:-,NM_152670.2(TEX37) c.27+146_27+148delAAG:-,0.16:-,NOT_FOUND 2 88825766 rs34891302 C T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8275,T/0.1725;Gene=TEX37/NM_152670.2/1;CC=c.28-157C>T;VC=Intron;DM=TEX37/TSC21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:14:0:0:6,8:199,183:0.00,17.91:0.00,17.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,55.9:0,0:0,0:57,56:93,94:30,10:-,NM_152670.2(TEX37) c.28-157C>T:-,0.16:-,NOT_FOUND 2 88826016 . G . . NT END=88828569;NT GT ./. 2 88826184 rs76507069 AT A 16 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AT/0.8267,A/0.1733;NP=114;PC=0.001;Gene=TEX37/NM_152670.2/1;CC=c.120+179delT;VC=Intron;DM=TEX37/TSC21;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:AT,I,A:10:1:1:5:4,1,5:129,33,164:0.00,2.59,16.08:0.00,0.00,3.48:0.00,2.59,12.60:0.00,0.00,0.95:0.00,0.00,0.67:0.00,0.00,1.00:60,60,60:0.0,0.0,45.2:0,0,0:0,0,0:41,103,58:109,47,93:15,0,11:-,NM_152670.2(TEX37) c.120+170delT:-,NOT_FOUND:-,NOT_FOUND 2 88826219 rs56783496 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7041,A/0.2959;Gene=TEX37/NM_152670.2/1;CC=c.120+204G>A;VC=Intron;DM=TEX37/TSC21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:10:2:0:0:4,6:132,204:12.19,0.00:1.42,0.00:10.77,0.00:0.84,0.00:0.70,0.00:0.98,0.00:60,60:86.8,0.0:0,0:0,0:81,83:70,67:37,15:NM_152670.2(TEX37) c.120+204G>A,-:0.29,-:NOT_FOUND,- 2 88826251 rs62159806 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8361,T/0.1639;Gene=TEX37/NM_152670.2/1;CC=c.120+236C>T;VC=Intron;DM=TEX37/TSC21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:8:2:0:0:5,3:158,104:0.00,9.53:0.00,1.57:0.00,7.96:0.00,0.67:0.00,0.67:0.00,0.95:60,60:0.0,96.0:0,0:0,0:113,102:38,49:9,22:-,NM_152670.2(TEX37) c.120+236C>T:-,0.16:-,NOT_FOUND 2 88826275 rs7576869 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5749,C/0.4251;Gene=TEX37/NM_152670.2/1;CC=c.120+260T>C;VC=Intron;DM=TEX37/TSC21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:8:2:0:0:4,4:97,139:9.14,0.00:1.59,0.00:7.55,0.00:0.99,0.00:0.79,0.00:0.99,0.00:60,60:80.5,0.0:0,0:0,0:99,132:40,18:38,7:NM_152670.2(TEX37) c.120+260T>C,-:0.4,-:NOT_FOUND,- 2 88828993 . G . . NT END=88857253;NT GT ./. 2 88857455 . C . . NT END=88858434;NT GT ./. 2 88858498 . C . . NT END=88861806;NT GT ./. 2 88861909 . C . . NT END=88870391;NT GT ./. 2 88870560 . C . . NT END=88874183;NT GT ./. 2 88870632 rs4972221 A T 121 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.3512,T/0.6488;PC=0.084;Gene=LOC101928371/NR_110236.1/0;VC=NonCoding;Gene=EIF2AK3/NM_001313915/0;CC=c.2365-73T>A;VC=Intron;Gene=EIF2AK3/NM_004836.5/1;CC=c.2818-73T>A;VC=Intron;DM=EIF2AK3/Pkinase;DM=EIF2AK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:8:0:0:33:1053:121.00:19.09:101.91:1.00:1.00:1.00:60:38.4:0:0:105:45:27:NM_004836.5(EIF2AK3) c.2818-73T>A,NM_004836.5(EIF2AK3) c.2818-73T>A:0.65,0.65:NOT_FOUND,NOT_FOUND 2 88874891 rs1805165 C A 367 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=C/0.2794,A/0.7206;PC=1.000;Gene=LOC101928371/NR_110236.1/0;VC=NonCoding;Gene=EIF2AK3/NM_001313915/0;CC=c.1657G>T;ProtCh=p.A553S;VC=Missense;Gene=EIF2AK3/NM_004836.5/1;CC=c.2110G>T;ProtCh=p.A704S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:96:56:0:0:95,1:3218,9:366.67,0.08:155.25,0.08:211.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,55.0:0,0:0,0:69,31:80,119:40,0:NM_004836.5(EIF2AK3) c.2110G>T (p.Ala704Ser),NM_004836.5(EIF2AK3) c.2110G>T (p.Ala704Ser):0.71,0.71:0.801707,0.801707 2 88874965 . C . . NT END=88876071;NT GT ./. 2 88875981 rs367967741 TA T 17 rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=455;PC=0.703;Gene=EIF2AK3/NM_001313915/0;CC=c.1583+90delT;VC=Intron;Gene=EIF2AK3/NM_004836.5/1;CC=c.2036+90delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,TA,T:54:51:0:8:1,45,8:32,1375,231:1.59,0.00,17.17:1.65,0.00,16.25:-0.07,0.00,0.92:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.83:60,60,60:32.0,14.3,8.4:0,0,0:0,0,0:12,47,17:139,103,134:0,36,5:-,NM_004836.5(EIF2AK3) c.2036+90delT:-,NOT_FOUND:-,NOT_FOUND 2 88876222 . C . . NT END=88879035;NT GT ./. 2 88879159 . C . . NT END=88882947;NT GT ./. 2 88882942 rs6750998 T A 173 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=in-clinvar;PAF=T/0.7957,A/0.2043;PC=0.201;Gene=EIF2AK3/NM_001313915/0;CC=c.1310+6A>T;VC=Intron;Gene=EIF2AK3/NM_004836.5/1;CC=c.1763+6A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:44:0:0:46:1511:173.02:140.81:32.20:1.00:1.00:1.00:60:39.9:0:0:39:106:24:NM_004836.5(EIF2AK3) c.1763+6A>T,NM_004836.5(EIF2AK3) c.1763+6A>T:0.2,0.2:0.239421,0.239421 2 88883061 . C . . NT END=88885358;NT GT ./. 2 88885580 . C . . NT END=88887499;NT GT ./. 2 88887623 . C . . NT END=88888278;NT GT ./. 2 88888420 . C . . NT END=88889960;NT GT ./. 2 88890124 . C . . NT END=88890335;NT GT ./. 2 88890571 . C . . NT END=88892789;NT GT ./. 2 88892542 rs4479429 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7967,T/0.2033;PC=0.003;Gene=EIF2AK3/NM_001313915/0;CC=c.314+248G>A;VC=Intron;Gene=EIF2AK3/NM_004836.5/1;CC=c.767+248G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:34.2:0:0:25:125:19:NM_004836.5(EIF2AK3) c.767+248G>A,NM_004836.5(EIF2AK3) c.767+248G>A:0.2,0.2:NOT_FOUND,NOT_FOUND 2 88892924 . C . . NT END=88893430;NT GT ./. 2 88893532 . g . . NT END=88894986;NT GT ./. 2 88895123 rs13045 T C 301 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=83;DB;DBA=in-clinvar;PAF=T/0.351,C/0.649;PC=1.000;Gene=EIF2AK3/NM_001313915/0;CC=c.44A>G;ProtCh=p.Q15R;VC=Missense;Gene=EIF2AK3/NM_004836.5/1;CC=c.497A>G;ProtCh=p.Q166R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:47:0:0:83:2618:301.17:120.97:180.20:1.00:1.00:1.00:60:34.3:0:0:76:69:35:NM_004836.5(EIF2AK3) c.497A>G (p.Gln166Arg),NM_004836.5(EIF2AK3) c.497A>G (p.Gln166Arg):0.65,0.65:0.734738,0.734738 2 88895182 . C . . NT END=88913241;NT GT ./. 2 88895351 rs7571971 T C 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2792,C/0.7208;Gene=EIF2AK3/NM_001313915/0;CC=c.-15-170A>G;VC=Intron;Gene=EIF2AK3/NM_004836.5/1;CC=c.439-170A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:374:43.59:0.00:43.59:1.00:0.00:1.00:60:30.5:0:0:113:35:29:NM_004836.5(EIF2AK3) c.439-170A>G,NM_004836.5(EIF2AK3) c.439-170A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 2 88913372 . C . . NT END=88926484;NT GT ./. 2 88926793 . C . . NT END=88991216;NT GT ./. 2 88991502 . G . . NT END=88998001;NT GT ./. 2 88998063 . G . . NT END=88999526;NT GT ./. 2 88999583 . G . . NT END=89028795;NT GT ./. 2 89028856 . G . . NT END=89034068;NT GT ./. 2 89034134 . G . . NT END=89035185;NT GT ./. 2 89035255 . G . . NT END=89036051;NT GT ./. 2 89036194 . G . . NT END=89037493;NT GT ./. 2 89037594 . G . . NT END=89049497;NT GT ./. 2 89049596 . C . . NT END=91634688;NT GT ./. 2 89070163 rs368164007 G GT 8 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=3;PC=0.003;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:G,GT,D:16:14:5:4:10,3,3:289,161,130:0.00,8.09,7.99:0.00,5.59,6.93:0.00,2.49,1.06:0.00,0.51,0.00:0.00,0.85,0.00:0.00,0.79,0.00:60,60,60:23.6,34.3,10.3:0,2,1:0,0,0:51,51,62:85,76,88:21,20,21:-,NR_015424.1(ANKRD36BP2) n.296-2327_296-2326insT:-,NOT_FOUND:-,NOT_FOUND 2 89070271 rs62157810 C T 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:26:17:0:0:1,15,10:9,482,322:-0.01,0.00,29.67:-0.11,0.00,16.08:0.10,0.00,13.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,27:27.0,7.7,184.1:0,0,0:0,0,0:24,86,82:116,51,57:0,20,7:-,NR_015424.1(ANKRD36BP2) n.296-2219C>T:-,NOT_FOUND:-,NOT_FOUND 2 89070273 . A G 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;PC=0.004;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:17:0:0:15,10:482,352:0.00,32.66:0.00,18.39:0.00,14.27:0.00,1.00:0.00,1.00:0.00,1.00:60,27:8.7,184.1:0,0:0,0:78,85:63,55:23,6:-,NR_015424.1(ANKRD36BP2) n.296-2217A>G:-,NOT_FOUND:-,NOT_FOUND 2 89070275 . T A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;PC=0.011;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:17:0:0:10,15:317,440:29.17,0.00:17.71,0.00:11.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:27,60:178.2,8.7:0,0:0,0:86,80:54,61:7,23:NR_015424.1(ANKRD36BP2) n.296-2215T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89070285 rs75532835 CA C 15 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.343;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:CA,T,C:24:16:0:10:13,1,10:389,10,175:0.00,0.08,15.23:0.00,0.23,8.58:0.00,-0.15,6.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,27:2.1,66.0,179.9:0,0,0:0,0,0:88,133,96:61,16,44:12,0,7:-,NR_015424.1(ANKRD36BP2) n.296-2204delA:-,NOT_FOUND:-,NOT_FOUND 2 89070289 rs78466317 A T 30 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.360;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:16:0:0:14,10:407,327:0.00,30.41:0.00,17.74:0.00,12.66:0.00,1.00:0.00,1.00:0.00,1.00:60,27:6.6,180.3:0,10:0,0:93,103:52,37:17,5:-,NR_015424.1(ANKRD36BP2) n.296-2201A>T:-,NOT_FOUND:-,NOT_FOUND 2 89070295 rs1905669 G A 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.544;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:15:0:0:10,13:338,436:31.73,0.00:16.49,0.00:15.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:27,60:183.5,7.2:0,0:0,0:109,98:31,53:5,24:NR_015424.1(ANKRD36BP2) n.296-2195G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89070392 rs9309653 G A 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.027;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:9:0:0:0:4,5:82,144:7.36,0.00:0.00,0.00:7.36,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:41.0,5.4:0,0:0,0:81,94:66,57:29,51:NR_015424.1(ANKRD36BP2) n.296-2098G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89072157 rs76945550 A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=1;PC=0.057;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,G:53:35:0:0:48,5:1512,134:0.00,8.71:0.00,8.73:0.00,-0.02:0.00,0.71:0.00,0.90:0.00,0.88:60,46:14.3,109.4:0,0:0,0:100,31:49,120:27,7:-,NR_015424.1(ANKRD36BP2) n.296-333A>G:-,NOT_FOUND:-,NOT_FOUND 2 89072222 rs72928624 C T 86 nt VT=SNV;PN=G;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=921;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:67:0:0:52,31:1747,948:0.00,85.76:0.00,61.78:0.00,23.98:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.6,98.1:0,0:0,0:52,36:97,108:27,12:-,NR_015424.1(ANKRD36BP2) n.296-268C>T:-,NOT_FOUND:-,NOT_FOUND 2 89072281 rs113768929 C G 94 nt VT=SNV;PN=G;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=846;PC=0.035;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:97:77:0:0:65,32:2206,1058:0.00,94.36:0.00,43.90:0.00,50.46:0.00,1.00:0.00,1.00:0.00,1.00:51,43:3.8,118.2:0,0:0,0:71,83:79,56:35,18:-,NR_015424.1(ANKRD36BP2) n.296-209C>G:-,NOT_FOUND:-,NOT_FOUND 2 89072329 rs202043147 G A 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=2;PC=0.016;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:102:72:0:0:17,84,1:459,2842,11:34.27,0.00,-0.24:12.34,0.00,-0.21:21.94,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:41,60,51:129.2,12.4,35.0:0,0,0:0,0,0:131,58,35:20,88,111:12,32,0:NR_015424.1(ANKRD36BP2) n.296-161G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89072340 rs149179974 A C 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=2;PC=0.014;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:98:64:0:0:83,15:2600,450:0.00,34.02:0.00,12.28:0.00,21.75:0.00,1.00:0.00,1.00:0.00,1.00:60,41:7.2,145.5:0,1:0,0:58,127:90,24:31,12:-,NR_015424.1(ANKRD36BP2) n.296-150A>C:-,NOT_FOUND:-,NOT_FOUND 2 89072354 rs112918392 A T 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.007;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,T:101:60:0:0:88,13:2816,368:0.00,26.24:0.00,2.06:0.00,24.18:0.00,1.00:0.00,1.00:0.00,1.00:60,40:5.0,169.9:0,0:0,0:57,117:85,34:31,14:-,NR_015424.1(ANKRD36BP2) n.296-136A>T:-,NOT_FOUND:-,NOT_FOUND 2 89072368 rs150733561 C T 24 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=NA;PC=0.533;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:99:56:0:0:89,10:2973,328:0.00,23.51:0.00,-1.99:0.00,25.50:0.00,0.98:0.00,0.99:0.00,1.00:60,25:5.2,182.5:0,0:0,0:65,122:81,28:26,8:-,NR_015424.1(ANKRD36BP2) n.296-122C>T:-,NOT_FOUND:-,NOT_FOUND 2 89072731 rs335120 A G 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2901,G/0.7099;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:A,G,T:12:0:0:0:1,10,1:9,337,10:0.00,36.99,0.46:0.00,0.00,0.00:0.00,36.99,0.46:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:40,60,51:145.0,65.0,121.0:0,0,0:0,0,0:111,114,30:39,36,119:0,21,0:NR_015424.1(ANKRD36BP2) n.367+170A>G,NR_015424.1(ANKRD36BP2) n.367+170A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89072747 rs75841812 T A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,T:13:0:0:0:5,8:117,258:10.29,0.00:0.00,0.00:10.29,0.00:0.91,0.00:0.00,0.00:0.91,0.00:51,60:161.2,30.6:0,0:0,0:62,130:89,20:16,18:NR_015424.1(ANKRD36BP2) n.367+186T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89072749 rs76573351 A G 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:A,G:12:0:0:0:7,5:215,151:0.00,13.94:0.00,0.00:0.00,13.94:0.00,0.92:0.00,0.00:0.00,0.92:60,51:30.0,161.2:0,0:0,0:118,64:33,87:32,16:-,NR_015424.1(ANKRD36BP2) n.367+188A>G:-,NOT_FOUND:-,NOT_FOUND 2 89072792 rs62157814 A G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.229;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:8:0:0:0:3,5:100,151:0.00,15.18:0.00,0.00:0.00,15.18:0.00,0.97:0.00,0.00:0.00,0.97:60,51:20.0,160.2:0,0:0,0:69,91:82,58:9,28:-,NR_015424.1(ANKRD36BP2) n.367+231A>G:-,NOT_FOUND:-,NOT_FOUND 2 89072855 rs62157815 A G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:7:0:0:0:2,5:66,151:0.00,15.65:0.00,0.00:0.00,15.65:0.00,0.98:0.00,0.00:0.00,0.98:60,34:12.0,135.2:0,0:0,0:127,38:23,112:4,36:-,NR_015424.1(ANKRD36BP2) n.367+294A>G:-,NOT_FOUND:-,NOT_FOUND 2 89072882 rs62157816 C G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=10;PC=0.116;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,G:7:0:0:0:2,5:66,173:0.00,17.87:0.00,0.00:0.00,17.87:0.00,0.98:0.00,0.00:0.00,0.98:60,42:78.0,118.0:0,0:0,0:89,65:60,85:60,38:-,NR_015424.1(ANKRD36BP2) n.367+321C>G:-,NOT_FOUND:-,NOT_FOUND 2 89072887 rs62157817 T C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.256;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:174:19.78:0.00:19.78:1.00:0.00:1.00:42:115.2:0:0:59:92:25:NR_015424.1(ANKRD36BP2) n.367+326T>C,NR_015424.1(ANKRD36BP2) n.367+326T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89082373 rs140000456 G A 22 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=1;PC=0.028;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:122:62:0:0:10,112:319,3634:21.67,0.00:21.55,0.00:0.11,0.00:0.97,0.00:0.97,0.00:0.99,0.00:40,60:244.5,5.7:0,0:0,0:32,75:113,72:3,30:NR_015424.1(ANKRD36BP2) n.473G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89082379 rs143191250 G A 19 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,G:118:60:0:0:10,108:290,3580:19.09,0.00:18.99,0.00:0.10,0.00:0.97,0.00:0.97,0.00:0.99,0.00:40,60:243.7,5.7:0,0:0,0:38,79:107,69:3,28:NR_015424.1(ANKRD36BP2) n.479G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89082381 rs140822233 C T 20 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T:118:59:0:0:108,10:3281,297:0.00,19.69:0.00,19.52:0.00,0.18:0.00,0.97:0.00,0.97:0.00,0.99:60,40:5.7,244.5:0,0:0,0:81,40:67,105:27,3:-,NR_015424.1(ANKRD36BP2) n.481C>T:-,NOT_FOUND:-,NOT_FOUND 2 89082388 rs142861467 G T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=0.129;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:119:60:0:0:104,15:3455,460:0.00,33.68:0.00,26.78:0.00,6.90:0.00,1.00:0.00,1.00:0.00,1.00:60,50:5.3,246.4:0,0:0,0:81,46:68,102:26,12:-,NR_015424.1(ANKRD36BP2) n.488G>T:-,NOT_FOUND:-,NOT_FOUND 2 89082399 rs114008584 G A 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=124;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:124:57:0:0:14,110:413,3527:29.11,0.00:22.39,0.00:6.72,0.00:1.00,0.00:0.99,0.00:1.00,0.00:50,60:251.7,5.8:0,0:0,0:53,85:93,64:13,31:NR_015424.1(ANKRD36BP2) n.499G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89082404 rs201059577 T C 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=4;PC=0.008;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:126:60:0:0:17,109:560,3459:42.52,0.00:26.32,0.00:16.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:254.8,6.1:0,0:0,0:31,91:111,58:23,30:NR_015424.1(ANKRD36BP2) n.504T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89082422 rs78593876 A G 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=809;PC=0.009;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:50:0:0:103,15:3417,481:0.00,35.75:0.00,19.59:0.00,16.16:0.00,1.00:0.00,0.99:0.00,1.00:60,50:7.0,256.7:0,0:0,0:87,76:55,75:33,16:-,NR_015424.1(ANKRD36BP2) n.522A>G:-,NOT_FOUND:-,NOT_FOUND 2 89082471 rs72930610 T C 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=2451;PC=0.012;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:26:0:0:16,68:500,2246:39.90,0.00:18.70,0.00:21.20,0.00:1.00,0.00:0.98,0.00:1.00,0.00:50,60:255.0,8.8:0,0:0,0:120,89:22,62:21,30:NR_015424.1(ANKRD36BP2) n.542+29T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89082495 rs78717019 T G 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=1456;NP=151;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:11:0:0:14,57:462,1834:37.58,0.00:7.20,0.00:30.37,0.00:1.00,0.00:0.86,0.00:1.00,0.00:52,60:258.2,19.5:0,0:0,0:102,101:47,49:11,21:NR_015424.1(ANKRD36BP2) n.542+53T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 89082503 rs74599148 C T 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=1457;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:7:0:0:52,15:1658,476:0.00,39.29:0.00,6.37:0.00,32.91:0.00,1.00:0.00,0.80:0.00,1.00:60,52:8.0,256.9:0,0:0,0:104,112:46,38:18,9:-,NR_015424.1(ANKRD36BP2) n.542+61C>T:-,NOT_FOUND:-,NOT_FOUND 2 89082520 rs72930612 G A 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=26;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:4:0:0:15,49:500,1548:42.03,0.00:4.74,0.00:37.29,0.00:1.00,0.00:0.66,0.00:1.00,0.00:52,60:257.9,7.6:0,0:0,0:126,120:23,31:12,19:NR_015424.1(ANKRD36BP2) n.542+78G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89082536 rs201698437 T G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:51:2:0:0:9,42:286,1354:22.60,0.00:-0.13,0.00:22.72,0.00:0.98,0.00:0.43,0.00:1.00,0.00:40,60:260.6,8.7:0,0:0,0:136,120:13,30:6,23:NR_015424.1(ANKRD36BP2) n.542+94T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 89082549 . G C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;PC=0.006;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,G:31:1:0:0:4,27:133,912:10.03,0.00:-0.06,0.00:10.09,0.00:0.64,0.00:0.42,0.00:0.95,0.00:40,60:265.2,8.0:0,0:0,0:136,94:14,57:7,31:NR_015424.1(ANKRD36BP2) n.542+107G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89082554 rs542630789 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,T:28:0:0:0:25,3:715,91:0.00,6.40:0.00,0.00:0.00,6.40:0.00,0.44:0.00,0.00:0.00,0.44:60,40:8.6,265.0:0,0:0,0:90,140:59,11:28,3:-,NR_015424.1(ANKRD36BP2) n.542+112C>T:-,NOT_FOUND:-,NOT_FOUND 2 89082684 rs80130259 G T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=234;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,G,T:7:1:0:0:1,3,3:8,76,100:0.30,0.00,9.61:0.00,0.00,1.70:0.30,0.00,7.91:0.00,0.00,0.69:0.00,0.00,0.62:0.00,0.00,0.69:60,60,48:52.0,23.7,130.0:0,0,0:0,0,0:76,90,49:75,61,101:0,23,17:-,NR_015424.1(ANKRD36BP2) n.542+242G>T:-,NOT_FOUND:-,NOT_FOUND 2 89082702 rs75619364 C A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=326;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C:7:1:0:0:3,4:100,119:9.36,0.00:1.70,0.00:7.65,0.00:0.69,0.00:0.62,0.00:0.69,0.00:48,60:130.7,30.8:0,0:0,0:52,101:99,50:2,18:NR_015424.1(ANKRD36BP2) n.542+260C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89082730 rs72930616 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=296;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:6:1:0:0:3,3:106,99:10.23,0.00:1.89,0.00:8.34,0.00:0.98,0.00:0.67,0.00:0.98,0.00:48,60:130.7,41.0:0,0:0,0:80,122:71,29:2,14:NR_015424.1(ANKRD36BP2) n.542+288T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89083636 rs77894369 G A 10 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:A,G:5:5:0:0:3,2:99,59:9.87,0.00:9.87,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:11,60:260.3,5.5:0,0:0,0:89,14:60,136:1,12:NR_015424.1(ANKRD36BP2) n.543-479G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89083637 rs78736685 C T 9 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:5:5:0:0:2,3:67,91:0.00,9.07:0.00,9.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,11:5.5,260.3:0,0:0,0:15,90:135,59:12,1:-,NR_015424.1(ANKRD36BP2) n.543-478C>T:-,NOT_FOUND:-,NOT_FOUND 2 89083672 rs78125714 C T 8 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:7:7:0:0:4,3:133,83:0.00,7.65:0.00,7.65:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,11:2.8,260.3:0,0:0,0:33,125:118,24:6,1:-,NR_015424.1(ANKRD36BP2) n.543-443C>T:-,NOT_FOUND:-,NOT_FOUND 2 89083673 rs76790385 C G 7 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,G:7:7:0:0:4,3:125,74:0.00,6.74:0.00,6.74:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,11:2.8,260.3:0,0:0,0:34,126:117,23:6,1:-,NR_015424.1(ANKRD36BP2) n.543-442C>G:-,NOT_FOUND:-,NOT_FOUND 2 89083679 rs77688689 G C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.022;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,G:10:10:0:0:5,5:156,143:14.99,0.00:14.99,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:24,60:244.2,2.2:0,0:0,0:74,35:76,116:59,10:NR_015424.1(ANKRD36BP2) n.543-436G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89083702 rs78896369 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.018;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:11:11:0:0:4,7:99,198:8.67,0.00:8.67,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:46,60:232.2,12.4:0,0:0,0:29,56:118,95:15,32:NR_015424.1(ANKRD36BP2) n.543-413T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89083709 rs79819727 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:12:12:0:0:5,7:165,233:15.35,0.00:15.35,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:46,60:219.6,12.4:0,0:0,0:33,63:118,88:24,32:NR_015424.1(ANKRD36BP2) n.543-406T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89083739 rs75020134 G A 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:8,10:244,323:22.84,0.00:22.84,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:53,60:191.0,8.7:0,0:0,0:37,55:113,96:20,40:NR_015424.1(ANKRD36BP2) n.543-376G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89083760 rs75524047 G A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=2;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:9,9:271,301:25.90,0.00:25.90,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:53,60:163.4,9.7:0,0:0,0:50,70:101,81:19,40:NR_015424.1(ANKRD36BP2) n.543-355G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89083762 rs76235592 G T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=69;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:18:0:0:9,9:261,263:0.00,25.14:0.00,25.14:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,53:9.7,163.4:0,0:0,0:72,52:79,99:40,19:-,NR_015424.1(ANKRD36BP2) n.543-353G>T:-,NOT_FOUND:-,NOT_FOUND 2 89083765 rs78872148 A G 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=101;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:9,9:276,291:0.00,27.98:0.00,27.98:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,53:9.7,163.4:0,0:0,0:75,55:76,96:40,19:-,NR_015424.1(ANKRD36BP2) n.543-350A>G:-,NOT_FOUND:-,NOT_FOUND 2 89084032 . A G 21 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=104;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:104:87:0:0:95,9:2965,304:0.00,21.41:0.00,-0.06:0.00,21.46:0.00,0.95:0.00,1.00:0.00,0.92:60,40:7.7,241.1:0,0:0,0:52,28:98,115:27,15:-,NR_015424.1(ANKRD36BP2) n.543-83A>G:-,NOT_FOUND:-,NOT_FOUND 2 89084039 . G A 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=112;PC=0.002;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,C,G:112:91:0:0:11,1,100:347,12,3327:24.40,-0.25,0.00:7.41,-0.29,0.00:16.99,0.04,0.00:0.99,0.00,0.00:1.00,0.00,0.00:0.97,0.00,0.00:40,21,60:226.6,167.0,8.8:0,0,0:0,0,0:20,18,48:108,108,100:15,0,24:NR_015424.1(ANKRD36BP2) n.543-76G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89084040 . C A 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=112;NP=1;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,C:112:91:0:0:13,99:359,3319:24.85,0.00:7.72,0.00:17.13,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:215.8,7.6:0,0:0,0:21,49:107,99:15,24:NR_015424.1(ANKRD36BP2) n.543-75C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89084058 . T A 29 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=139;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,T:139:111:0:0:13,126:420,4014:29.47,0.00:9.90,0.00:19.57,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,60:212.4,6.6:13,0:0,0:36,47:90,97:13,31:NR_015424.1(ANKRD36BP2) n.543-57T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89084061 . A G 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=142;NP=1;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:142:114:0:0:128,14:4095,462:0.00,33.04:0.00,11.19:0.00,21.85:0.00,1.00:0.00,1.00:0.00,1.00:60,58:10.0,183.9:0,0:0,0:52,36:91,87:35,14:-,NR_015424.1(ANKRD36BP2) n.543-54A>G:-,NOT_FOUND:-,NOT_FOUND 2 89084327 rs335121 G C 256 nt VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.2903,C/0.7097;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:20:0:0:68:2239:256.21:50.21:206.00:1.00:1.00:1.00:60:42.5:0:0:108:40:24:NR_015424.1(ANKRD36BP2) n.661G>C,NR_015424.1(ANKRD36BP2) n.661G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 89084429 . GA G 47 nt VT=DEL;SST=Single;DP=27;PC=0.053;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:27:0:0:15:12,15:401,475:0.00,46.60:0.00,0.00:0.00,46.60:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.6,19.7:0,0:0,0:76,107:75,44:19,12:-,NR_015424.1(ANKRD36BP2) n.764delA:-,NOT_FOUND:-,NOT_FOUND 2 89100215 rs335127 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7344,C/0.2656;PC=0.026;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:36.8:0:0:92:59:43:NR_015424.1(ANKRD36BP2) n.1056-401T>C,NR_015424.1(ANKRD36BP2) n.1056-401T>C:0.25,0.25:NOT_FOUND,NOT_FOUND 2 89102315 rs335126 G T 183 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.8235,T/0.1765;PC=0.593;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:C,T:48:41:0:0:1,47:11,1614:0.23,183.38:0.23,131.14:0.00,52.24:0.00,1.00:0.00,1.00:0.00,1.00:44,60:198.0,37.6:0,0:0,0:32,67:99,83:0,37:NR_015424.1(ANKRD36BP2) n.1262+1493G>T,NR_015424.1(ANKRD36BP2) n.1262+1493G>T:0.16,0.16:NOT_FOUND,NOT_FOUND 2 89104073 rs2848121 G A 46 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1651;PC=0.025;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:4:0:0:12:399:45.62:15.41:30.22:1.00:1.00:1.00:60:41.0:0:0:92:59:40:NR_015424.1(ANKRD36BP2) n.1333+109G>A,NR_015424.1(ANKRD36BP2) n.1333+109G>A:1,1:NOT_FOUND,NOT_FOUND 2 89104550 rs3952532 A T 9 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=30;PC=0.215;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,T:8:2:0:0:5,3:146,97:0.00,8.83:0.00,2.95:0.00,5.89:0.00,0.67:0.00,0.67:0.00,0.93:60,25:43.8,82.0:0,0:0,0:28,142:110,7:13,0:-,NR_015424.1(ANKRD36BP2) n.1427+156A>T:-,NOT_FOUND:-,NOT_FOUND 2 89104670 rs2365122 A G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=489;PC=0.207;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:14:0:0:9,11:261,377:0.00,37.00:0.00,31.22:0.00,5.78:0.00,1.00:0.00,1.00:0.00,0.99:60,40:24.6,116.4:0,0:0,0:83,56:68,95:34,16:-,NR_015424.1(ANKRD36BP2) n.1428-223A>G:-,NOT_FOUND:-,NOT_FOUND 2 89104710 rs62158698 G A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=255;PC=0.019;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:17:0:0:11,10:370,283:35.99,0.00:29.84,0.00:6.15,0.00:1.00,0.00:1.00,0.00:0.95,0.00:40,60:125.7,22.1:0,0:0,0:92,48:58,102:20,34:NR_015424.1(ANKRD36BP2) n.1428-183G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89104717 rs4020365 C T 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=183;PC=0.027;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:21:18:0:0:1,10,10:8,340,289:0.02,0.00,27.62:-0.19,0.00,24.54:0.21,0.00,3.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.87:48,60,40:221.0,0.0,131.8:0,0,0:0,0,0:96,41,94:54,110,56:0,24,13:-,NR_015424.1(ANKRD36BP2) n.1428-176C>T:-,NOT_FOUND:-,NOT_FOUND 2 89104745 rs371869038 T C 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=31;PC=0.174;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:20:0:0:8,14:285,387:26.07,0.00:26.46,0.00:-0.39,0.00:0.99,0.00:1.00,0.00:0.66,0.00:40,60:146.4,31.7:0,0:0,0:116,57:34,93:15,36:NR_015424.1(ANKRD36BP2) n.1428-148T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89104882 rs4020366 C A 7 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=2;PC=0.986;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,C,G:35:26:0:0:3,31,1:95,1032,12:6.53,0.00,-0.04:2.89,0.00,-0.22:3.64,0.00,0.18:0.40,0.00,0.00:0.80,0.00,0.00:0.76,0.00,0.00:11,60,60:185.7,4.8,72.0:0,0,0:0,0,0:32,53,14:118,83,136:18,25,0:NR_015424.1(ANKRD36BP2) n.1428-11C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89104897 rs2365125 C T 11 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.5883,G/.,T/0.4117;PC=0.008;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G,T:35:24:0:0:30,1,4:970,11,140:0.00,-0.09,10.56:0.00,-0.19,0.73:0.00,0.11,9.83:0.00,0.00,0.61:0.00,0.00,0.87:0.00,0.00,0.91:60,49,7:3.4,134.0,211.0:0,0,0:0,0,0:63,108,21:87,-2,122:19,0,9:-,NR_015424.1(ANKRD36BP2) n.1432C>T:-,NOT_FOUND:-,NOT_FOUND 2 89104898 rs2365126 A G 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.5883,C/.,G/0.4117;PC=0.003;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G:35:24:0:0:30,5:976,146:0.00,10.80:0.00,0.56:0.00,10.24:0.00,0.98:0.00,0.93:0.00,0.96:60,49:3.4,192.6:0,0:0,0:67,30:82,107:19,18:-,NR_015424.1(ANKRD36BP2) n.1433A>G:-,NOT_FOUND:-,NOT_FOUND 2 89104928 rs76265890 T C 15 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=738;PC=0.994;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:A,C,T:45:22:0:0:2,9,34:18,204,1084:-0.11,15.15,0.00:-0.25,0.38,0.00:0.14,14.77,0.00:0.00,0.99,0.00:0.00,0.98,0.00:0.00,1.00,0.00:60,49,60:111.0,182.1,3.5:0,0,0:0,0,0:45,33,86:105,114,61:3,20,25:NR_015424.1(ANKRD36BP2) n.1457+6T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89104958 . A G 21 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;NP=17;PC=0.907;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:14:0:0:31,9:989,264:0.00,21.45:0.00,0.57:0.00,20.88:0.00,0.99:0.00,0.94:0.00,1.00:60,40:11.0,195.8:0,0:0,0:102,58:46,93:27,15:-,NR_015424.1(ANKRD36BP2) n.1457+36A>G:-,NOT_FOUND:-,NOT_FOUND 2 89104985 rs140028381 G A 25 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=18;PC=0.171;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:8:0:0:10,24:287,757:24.52,0.00:0.99,0.00:23.53,0.00:1.00,0.00:0.91,0.00:1.00,0.00:40,60:196.8,5.6:0,0:0,0:87,111:61,30:15,28:NR_015424.1(ANKRD36BP2) n.1457+63G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 89105008 rs2365127 T C 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.5515,C/0.4485;NP=233;PC=0.010;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:A,C,T:25:1:0:0:1,7,17:8,207,529:-0.10,17.74,0.00:-0.01,-0.07,0.00:-0.09,17.81,0.00:0.00,0.96,0.00:0.00,0.52,0.00:0.00,0.96,0.00:30,40,60:257.0,188.3,8.4:0,0,0:0,0,0:66,108,101:84,43,49:0,14,21:NR_015424.1(ANKRD36BP2) n.1457+86T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 89105019 rs2365128 A C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=65;PC=0.001;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:0:0:0:15,8:463,245:0.00,21.85:0.00,0.00:0.00,21.85:0.00,0.99:0.00,0.00:0.00,0.99:60,40:11.9,196.9:0,0:0,0:96,119:55,32:21,14:-,NR_015424.1(ANKRD36BP2) n.1457+97A>C:-,NOT_FOUND:-,NOT_FOUND 2 89105045 rs140965406 C T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1;PC=0.006;Gene=ANKRD36BP2/NR_015424.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:C,T:19:0:0:0:12,7:380,186:0.00,16.48:0.00,0.00:0.00,16.48:0.00,0.98:0.00,0.00:0.00,0.98:60,60:12.9,161.7:0,0:0,0:121,130:29,20:18,15:-,NR_015424.1(ANKRD36BP2) n.1457+123C>T:-,NOT_FOUND:-,NOT_FOUND 2 89850578 . C G 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:C,G:13:6:0:0:6,7:175,212:0.00,20.63:0.00,12.18:0.00,8.45:0.00,0.99:0.00,0.99:0.00,1.00:40,40:262.3,277.6:0,0:0,0:51,50:63,54:12,8:-,chr2 g.89850577C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89850583 . C A 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,C:13:6:0:0:12,1:389,11:43.22,0.00:18.51,0.00:24.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:273.3,237.0:0,0:0,0:59,40:50,67:8,0:chr2 g.89850582C>A (intergenic),chr2 g.89850582C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89850588 . C A 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:6:0:0:13:419:48.10:17.43:30.67:1.00:1.00:1.00:40:270.4:0:0:60:46:8:chr2 g.89850587C>A (intergenic),chr2 g.89850587C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89850600 . A G 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:7:0:0:14:464:53.08:20.42:32.65:1.00:1.00:1.00:40:270.0:0:0:76:33:9:chr2 g.89850599A>G (intergenic),chr2 g.89850599A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89850602 . A T 50 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:6:0:0:13:435:49.70:19.18:30.52:1.00:1.00:1.00:40:271.0:0:0:74:32:8:chr2 g.89850601A>T (intergenic),chr2 g.89850601A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89850609 rs75056998 G A 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:6:0:0:13:435:49.70:19.48:30.22:1.00:1.00:1.00:40:270.5:0:0:81:25:8:chr2 g.89850608G>A (intergenic),chr2 g.89850608G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89850618 . C T 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:6:0:0:13:398:45.92:15.11:30.82:1.00:1.00:1.00:40:271.0:0:0:90:16:8:chr2 g.89850617C>T (intergenic),chr2 g.89850617C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89850629 . A C 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:5:0:0:13:414:47.58:14.57:33.00:1.00:1.00:1.00:40:270.3:0:0:109:5:11:chr2 g.89850628A>C (intergenic),chr2 g.89850628A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89850633 . A C 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:C,G:11:4:0:0:10,1:330,10:37.34,0.53:9.79,0.53:27.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,24:276.9,219.0:0,0:0,0:109,99:4,15:12,0:chr2 g.89850632A>C (intergenic),chr2 g.89850632A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89853173 . A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:13:0:0:10,7:285,229:0.00,21.26:0.00,15.75:0.00,5.51:0.00,0.98:0.00,1.00:0.00,1.00:60,46:258.8,251.1:0,0:0,0:14,12:95,94:4,4:-,chr2 g.89853172A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89853177 . T G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,G,T:14:10:0:0:1,10,3:12,306,104:0.52,32.27,0.00:-0.05,18.65,0.00:0.56,13.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:13,60,46:226.0,265.0,236.3:0,0,0:0,0,0:14,15,31:119,91,91:0,1,3:chr2 g.89853176T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89853192 rs373474954 T C 71 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:14:0:5:19:621:71.11:33.40:37.72:1.00:1.00:1.00:60:248.1:0:0:30:76:7:chr2 g.89853191T>C (intergenic),chr2 g.89853191T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89853193 rs376721732 T A,C 60 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:31:A,C:19:14:0:5:17,2:531,71:60.30,6.10:28.45,3.05:31.85,3.05:1.00,0.00:1.00,0.00:1.00,0.00:60,58:245.8,245.5:0,0:0,0:31,20:75,75:5,15:chr2 g.89853192T>A (intergenic),chr2 g.89853192T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89853196 . C G 44 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:22:16:0:4:1,8,13:33,274,438:2.27,0.00,43.89:2.35,0.00,19.21:-0.08,0.00,24.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:37,58,60:258.0,196.8,245.5:0,0,0:0,0,0:35,18,34:72,69,73:0,10,5:-,chr2 g.89853195C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89853211 . T C,G 68 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;NP=76 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:115:A,C,G,T:31:27:0:0:1,7,19,4:11,239,648,135:0.26,22.28,68.17,0.00:-0.02,12.76,37.91,0.00:0.28,9.52,30.27,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:26,59,60,51:299.0,180.1,215.2,219.0:0,0,0,0:0,0,0,0:90,23,48,56:61,56,57,59:0,1,7,10:chr2 g.89853210T>C (intergenic),chr2 g.89853210T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89853216 . A G 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;NP=69 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:26:0:0:11,19:343,657:0.00,66.20:0.00,33.77:0.00,32.43:0.00,1.00:0.00,1.00:0.00,1.00:59,60:179.0,219.3:0,0:0,0:28,51:52,53:12,8:-,chr2 g.89853215A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89853225 . T G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:27:0:0:9,22:318,712:27.99,0.00:15.60,0.00:12.40,0.00:0.99,0.00:1.00,0.00:1.00,0.00:59,60:187.3,216.8:0,0:0,0:37,61:42,44:12,19:chr2 g.89853224T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89853236 rs368209884 C CG 19 nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CG:33:29:10:0:1,22,10:33,698,226:1.97,0.00,18.69:0.98,0.00,10.33:0.98,0.00,8.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:48,60,59:205.0,219.8,192.4:0,0,0:0,0,0:39,73,47:36,32,32:0,10,10:-,chr2 g.89853236_89853237insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89853237 . C A 28 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:32:28:0:0:10,22:322,721:28.35,0.00:16.69,0.00:11.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:181.0,222.0:9,0:0,0:49,74:31,31:9,7:chr2 g.89853236C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89853239 . T A 24 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:29:0:1:9,24:277,788:23.59,0.00:13.86,0.00:9.74,0.00:0.99,0.00:1.00,0.00:1.00,0.00:59,60:181.7,219.4:9,0:0,0:51,76:29,29:9,10:chr2 g.89853238T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89853255 . T A 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;NP=77 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:29:24:0:0:17,12:510,407:50.45,0.00:22.07,0.00:28.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,59:218.9,183.6:0,0:0,0:90,68:14,13:8,11:chr2 g.89853254T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89853272 . AC G,A 7 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:AC,G,A:4:3:0:2:1,2,1:8,68,16:0.00,6.88,1.36:0.00,3.58,1.48:0.00,3.30,-0.12:0.00,0.51,0.00:0.00,0.89,0.00:0.00,0.89,0.00:13,46,16:226.0,218.0,236.0:0,0,1:0,0,0:109,100,85:24,3,55:0,25,0:chr2 g.89853272_89853273delACinsG (intergenic),chr2 g.89853273delC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89855527 . T C 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:3:0:0:6:210:23.86:11.93:11.93:1.00:1.00:1.00:27:237.5:0:0:69:44:4:chr2 g.89855526T>C (intergenic),chr2 g.89855526T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89855531 . C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:6:3:0:0:3,3:101,99:0.00,9.52:0.00,3.07:0.00,6.45:0.00,0.98:0.00,0.89:0.00,0.89:18,27:241.0,234.0:0,0:0,0:75,71:38,42:6,2:-,chr2 g.89855530C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89855542 . A T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:3:0:0:6:180:20.84:11.13:9.71:1.00:1.00:1.00:27:237.5:0:0:84:29:4:chr2 g.89855541A>T (intergenic),chr2 g.89855541A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89855552 . T A,C 16 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C:6:3:0:0:5,1:142,13:16.16,1.01:10.99,0.00:5.17,1.01:0.99,0.00:1.00,0.00:1.00,0.00:27,26:235.4,248.0:0,0:0,0:92,113:21,-7:2,0:chr2 g.89855551T>A (intergenic),chr2 g.89855551T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89855554 . C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:3:0:0:6:206:23.46:11.83:11.63:1.00:1.00:1.00:27:237.5:0:0:96:17:4:chr2 g.89855553C>T (intergenic),chr2 g.89855553C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89855558 . T C,G 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:16:C,G,T:6:3:0:0:1,4,1:30,114,13:2.62,12.10,0.00:2.70,5.16,0.00:-0.08,6.94,0.00:0.00,0.93,0.00:0.00,0.97,0.00:0.00,0.97,0.00:27,26,18:238.0,242.8,216.0:0,0,0:0,0,0:96,108,98:17,4,15:0,8,0:chr2 g.89855557T>C (intergenic),chr2 g.89855557T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89855572 . A T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:3:0:0:6:186:21.46:9.73:11.73:1.00:1.00:1.00:27:237.5:0:0:114:-1:4:chr2 g.89855571A>T (intergenic),chr2 g.89855571A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89855588 rs568523059 C G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:3:0:0:6:135:16.28:4.95:11.33:1.00:1.00:1.00:27:237.5:0:0:130:-17:4:chr2 g.89855587C>G (intergenic),chr2 g.89855587C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89865224 . C G 9 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,G,I:9:7:1:0:5,3,1:171,102,5:0.00,9.32,-0.05:0.00,4.56,0.08:0.00,4.76,-0.13:0.00,0.64,0.00:0.00,0.92,0.00:0.00,0.42,0.00:60,45,5:204.2,249.0,261.0:0,0,0:0,0,0:28,9,55:87,105,83:10,3,0:-,chr2 g.89865223C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89865227 . C A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:A,C,T:9:7:0:0:3,5,1:95,167,31:8.62,0.00,2.37:7.59,0.00,2.55:1.03,0.00,-0.18:0.64,0.00,0.00:0.92,0.00,0.00:0.42,0.00,0.00:46,60,1:230.7,210.0,288.0:0,0,0:0,0,0:41,28,31:75,113,84:14,10,0:chr2 g.89865226C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89865231 . G A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:9:7:0:2:3,6:99,191:8.84,0.00:7.66,0.00:1.18,0.00:0.64,0.00:0.92,0.00:0.42,0.00:53,60:273.7,194.5:0,0:0,0:31,35:98,89:8,10:chr2 g.89865230G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89865242 . A T 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,T:9:7:0:1:5,4:160,131:0.00,12.32:0.00,6.21:0.00,6.11:0.00,0.85:0.00,0.97:0.00,0.97:60,53:219.8,252.0:0,0:0,0:46,40:68,92:4,9:-,chr2 g.89865241A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89865259 rs367886878 G C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,G,T:10:8:0:0:5,4,1:173,137,35:16.98,0.00,2.79:8.49,0.00,-0.09:8.49,0.00,2.89:0.95,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:45,60,18:247.2,149.2,165.0:0,0,0:0,0,0:60,57,46:70,67,76:3,29,0:chr2 g.89865258G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89865276 rs376911263 T A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=352 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G,T:11:8:0:0:3,1,7:102,24,233:8.97,1.55,0.00:6.35,0.84,0.00:2.62,0.71,0.00:0.60,0.00,0.00:0.89,0.00,0.00:0.93,0.00,0.00:45,1,60:221.7,249.0,171.6:0,0,1:0,0,0:76,32,68:67,95,54:1,0,7:chr2 g.89865275T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89865289 rs372278354 G C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=61 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:C,G,D:10:7:0:1:4,5,1:133,156,34:12.51,0.00,2.65:4.73,0.00,1.35:7.79,0.00,1.30:0.84,0.00,0.00:0.96,0.00,0.00:0.98,0.00,0.00:60,44,53:198.8,167.8,272.0:1,0,0:0,0,0:93,74,87:28,45,48:26,9,0:chr2 g.89865288G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89866838 . C T 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:4:3:0:0:2,2:43,67:0.00,6.48:0.00,5.11:0.00,1.36:0.00,0.51:0.00,0.89:0.00,0.89:5,44:171.0,277.5:0,0:0,0:79,55:48,56:20,4:-,chr2 g.89866837C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867244 rs374137978 T C 10 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:2:0:0:3,1:92,35:9.65,0.00:3.05,0.00:6.60,0.00:0.85,0.00:0.95,0.00:0.95,0.00:13,33:217.3,192.0:0,0:0,0:35,25:94,92:10,0:chr2 g.89867243T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89867246 rs370964995 A T 6 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,T:4:2:0:0:2,2:64,66:0.00,6.35:0.00,3.17:0.00,3.18:0.00,0.51:0.00,0.79:0.00,0.79:33,13:215.5,206.5:0,0:0,0:57,32:58,92:30,5:-,chr2 g.89867245A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867286 rs367633718 A T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:4:2:0:0:1,3:33,100:0.00,10.45:0.00,5.63:0.00,4.83:0.00,0.85:0.00,0.95:0.00,0.99:12,33:239.0,201.7:0,1:0,0:128,67:-14,52:0,5:-,chr2 g.89867285A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867367 rs369703922 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:1:0:0:1,3:34,103:0.00,10.75:0.00,-0.60:0.00,11.36:0.00,0.85:0.00,0.83:0.00,0.99:40,36:213.0,197.0:0,0:0,0:7,49:140,83:0,1:-,chr2 g.89867366C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867388 rs374394199 G C 9 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,G:8:5:0:0:3,5:98,150:8.94,0.00:1.11,0.00:7.83,0.00:0.67,0.00:0.90,0.00:0.93,0.00:36,54:187.7,149.6:2,0:0,0:64,24:86,107:1,9:chr2 g.89867387G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89867409 . C G 15 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,C,G,T,I,D:23:17:2:3:2,9,6,1,2,3:69,300,172,34,33,83:5.38,0.00,15.38,2.34,1.83,6.54:4.08,0.00,8.43,2.42,0.32,5.34:1.30,0.00,6.96,-0.08,1.50,1.20:0.00,0.00,0.92,0.00,0.00,0.00:0.00,0.00,0.98,0.00,0.00,0.00:0.00,0.00,0.96,0.00,0.00,0.00:54,44,61,21,43,44:210.5,187.2,196.5,194.0,131.0,91.3:0,2,0,0,0,0:0,0,0,0,0,0:34,30,17,15,32,35:97,110,107,115,108,91:14,10,6,0,12,16:-,chr2 g.89867408C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867410 . A G 20 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,I:19:14:1:6:11,7,1:332,217,24:0.00,19.81,1.35:0.00,16.07,1.49:0.00,3.74,-0.14:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.99,0.00:43,61,24:158.7,178.4,213.0:0,0,0:0,0,0:31,21,18:93,108,129:21,6,0:-,chr2 g.89867409A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867463 rs372477230 C G 48 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=124 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,I,D:38:33:1:2:1,19,16,1,1:33,575,509,11,21:1.98,0.00,48.00,0.06,0.81:0.97,0.00,21.22,0.14,0.90:1.01,0.00,26.78,-0.09,-0.09:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:41,54,68,11,21:233.0,142.2,146.2,80.0,194.0:0,6,0,0,0:0,0,0,0,0:43,74,55,77,69:72,52,60,49,61:0,11,7,0,0:-,chr2 g.89867462C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867468 . A C 17 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;NP=2;NP=56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,C,D:28:23:0:13:20,7,1:584,208,8:0.00,17.44,-0.13:0.00,7.35,0.00:0.00,10.10,-0.13:0.00,0.96,0.00:0.00,0.99,0.00:0.00,0.85,0.00:68,40,8:158.0,199.0,100.0:0,0,0:0,0,0:62,73,84:53,45,50:8,16,0:-,chr2 g.89867467A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867471 . T G 13 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;NP=70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:G,T:36:31:0:5:5,31:164,900:12.50,0.00:4.52,0.00:7.98,0.00:0.78,0.00:0.97,0.00:0.93,0.00:49,68:244.6,166.2:1,5:0,0:86,69:39,52:8,11:chr2 g.89867470T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89867472 . T A 7 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,T:35:30:0:5:3,32:102,1011:7.19,0.00:3.48,0.00:3.71,0.00:0.40,0.00:0.84,0.00:0.77,0.00:43,68:157.7,174.5:2,5:0,0:69,71:31,51:4,12:chr2 g.89867471T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89867483 . C CCACTG 23 nt VT=INS;SST=Single;DP=38;NP=1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCACTG:38:32:9:0:29,9:968,278:0.00,23.06:0.00,7.96:0.00,15.10:0.00,0.99:0.00,1.00:0.00,1.00:52,70:175.7,124.9:4,0:0,0:88,67:37,47:8,5:-,chr2 g.89867483_89867484insCACTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867488 rs370493490 C G 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=85 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C,G:37:30:0:0:1,32,4:30,1075,142:1.53,0.00,10.66:1.71,0.00,6.76:-0.17,0.00,3.90:0.00,0.00,0.60:0.00,0.00,0.91:0.00,0.00,0.87:12,70,29:187.0,157.3,214.8:0,0,0:0,0,0:93,90,91:30,31,33:0,12,7:-,chr2 g.89867487C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867505 . A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,G,T:42:30:0:0:36,4,2:938,134,58:0.00,9.67,3.36:0.00,4.58,-0.43:0.00,5.09,3.80:0.00,0.58,0.00:0.00,0.87,0.00:0.00,0.84,0.00:64,68,44:172.1,115.5,284.0:0,0,0:0,0,0:106,98,110:14,13,25:10,3,6:-,chr2 g.89867504A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867510 . A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,C,G:36:23:0:0:30,2,4:779,68,128:0.00,4.51,9.37:0.00,-0.45,1.61:0.00,4.95,7.76:0.00,0.00,0.61:0.00,0.00,0.85:0.00,0.00,0.83:68,54,63:174.9,272.0,125.8:0,0,0:0,0,0:114,97,107:10,28,10:8,0,10:-,chr2 g.89867509A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867515 rs373460673 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G,T:34:20:0:0:30,3,1:794,101,33:0.00,7.17,1.86:0.00,0.78,0.92:0.00,6.40,0.94:0.00,0.40,0.00:0.00,0.73,0.00:0.00,0.73,0.00:68,64,41:181.1,165.0,233.0:1,0,0:0,0,0:119,100,95:7,18,20:9,13,0:-,chr2 g.89867514A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867523 rs376186647 T C 68 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=117 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,C,T:29:15:0:1:2,21,6:61,646,139:4.55,68.35,0.00:2.10,22.70,0.00:2.46,45.66,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:54,70,40:138.5,182.0,171.2:0,0,0:0,0,0:122,120,128:-7,3,-10:3,10,10:chr2 g.89867522T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89867530 rs370827568 T A 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=4;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:A,G,T:22:12:0:0:11,1,10:324,33,184:31.35,2.23,0.00:3.94,-0.16,0.00:27.41,2.39,0.00:1.00,0.00,0.00:0.98,0.00,0.00:0.98,0.00,0.00:65,15,47:204.0,237.0,165.4:0,0,1:0,0,0:126,130,141:3,-5,3:9,0,5:chr2 g.89867529T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89867994 rs577288120 C T 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:9:6:0:0:5,4:141,120:0.00,11.23:0.00,2.68:0.00,8.55:0.00,0.85:0.00,0.96:0.00,0.96:60,49:201.8,250.2:0,0:0,0:11,14:125,105:3,5:-,chr2 g.89867993C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89867996 . C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,C,T:11:7:0:0:1,3,7:26,78,213:1.92,0.00,21.96:0.94,0.00,8.22:0.98,0.00,13.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,60,49:293.0,156.0,244.4:0,0,0:0,0,0:13,16,12:123,123,119:0,2,6:-,chr2 g.89867995C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868000 . G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:13:9:0:0:3,10:92,306:7.58,0.00:4.25,0.00:3.34,0.00:0.58,0.00:0.87,0.00:0.89,0.00:60,60:209.7,210.7:0,0:0,0:17,11:119,111:1,6:chr2 g.89867999G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868004 . G A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;NP=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,C,G:12:8:0:0:6,1,5:131,12,166:12.56,0.48,0.00:3.96,-0.17,0.00:8.60,0.65,0.00:0.98,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:60,60,45:239.7,88.0,227.6:0,0,0:0,0,0:15,26,21:112,125,111:6,0,1:chr2 g.89868003G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868033 . C G 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;NP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,G,T,I:36:23:1:0:30,4,1,1:940,141,33,16:0.00,10.67,1.86,0.26:0.00,6.99,0.97,0.17:0.00,3.67,0.89,0.09:0.00,0.61,0.00,0.00:0.00,0.85,0.00,0.00:0.00,0.90,0.00,0.00:60,27,47,16:188.1,177.0,185.0,248.0:1,0,0,0:0,0,0,0:39,28,39,49:70,56,52,82:11,10,0,0:-,chr2 g.89868032C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868036 rs372372334 A C 7 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,C,T:36:23:0:0:30,4,2:833,106,67:0.00,7.21,4.41:0.00,5.02,2.29:0.00,2.19,2.12:0.00,0.61,0.00:0.00,0.85,0.00:0.00,0.90,0.00:60,15,47:181.6,200.0,176.0:3,0,0:0,0,0:39,56,30:80,52,53:8,6,12:-,chr2 g.89868035A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868039 rs374724753 A G 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:35:22:0:2:9,24,2:244,740,43:0.00,77.02,2.77:0.00,31.62,1.25:0.00,45.40,1.52:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,27:140.0,203.6,164.0:0,1,0:0,0,0:37,44,35:55,68,59:10,10,1:-,chr2 g.89868038A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868040 rs369047429 G A 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=144 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:34:21:0:2:21,1,12:637,35,312:64.30,2.29,0.00:19.43,1.12,0.00:44.87,1.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,27,60:189.4,148.0,179.8:0,0,2:0,0,0:40,37,55:74,36,56:6,0,7:chr2 g.89868039G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868076 . T C 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:36:21:0:0:1,16,1,18:20,496,35,543:0.75,47.00,2.20,0.00:0.84,7.57,-0.12,0.00:-0.10,39.43,2.33,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:15,60,40,60:208.0,202.0,142.0,170.7:0,0,1,0:0,0,0,0:100,77,76,77:14,45,35,20:0,6,0,17:chr2 g.89868075T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868086 rs371566550 T G 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=6;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:33:19:0:1:1,17,15:33,555,448:2.06,54.03,0.00:1.00,9.61,0.00:1.06,44.42,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,52,60:101.0,205.0,185.1:0,0,1:0,0,0:83,87,103:1,35,13:0,7,11:chr2 g.89868085T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868089 rs376039222 T C 70 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:A,C,T:31:17:0:1:1,22,8:35,675,209:2.37,70.40,0.00:2.42,19.32,0.00:-0.05,51.08,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:45,60,60:217.0,198.0,182.4:0,1,0:0,0,0:111,92,103:-3,32,3:0,8,17:chr2 g.89868088T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868090 rs369346346 A T 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,I:32:17:1:0:13,18,1:383,553,22:0.00,54.70,1.02:0.00,10.52,0.48:0.00,44.18,0.54:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,43,22:190.5,199.8,237.0:0,1,0:0,0,0:110,88,95:8,31,43:9,7,0:-,chr2 g.89868089A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868347 rs371220399 G T 14 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:123:14.21:2.67:11.53:1.00:1.00:1.00:13:211.5:0:0:86:24:14:chr2 g.89868346G>T (intergenic),chr2 g.89868346G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89868708 . A C,T 11 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:29:C,T:4:3:0:2:3,1:104,35:11.46,3.38:11.46,0.00:0.00,3.38:0.85,0.00:0.99,0.00:0.83,0.00:40,13:200.0,243.0:0,0:0,0:27,20:118,113:4,0:chr2 g.89868707A>C (intergenic),chr2 g.89868707A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89868709 . T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:3:0:2:3,1:96,35:10.05,0.00:6.10,0.00:3.95,0.00:0.85,0.00:0.99,0.00:0.83,0.00:40,13:218.7,187.0:0,0:0,0:24,38:117,85:3,0:chr2 g.89868708T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868720 rs574800490 A AG 9 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,AG:6:4:4:1:2,4:66,86:0.00,8.78:0.00,6.15:0.00,2.63:0.00,0.93:0.00,0.99:0.00,0.91:39,40:225.0,168.5:0,4:0,0:30,42:92,100:18,4:-,chr2 g.89868720_89868721insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868723 . CAATTCA C 9 idl,nt VT=DEL;SST=Single;DP=6;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:CAATTCA,C:6:4:0:5:2,4:46,84:0.00,8.60:0.00,5.97:0.00,2.63:0.00,0.93:0.00,0.99:0.00,0.91:39,40:225.0,168.5:0,4:0,0:33,46:89,96:18,4:-,chr2 g.89868724_89868729delAATTCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868730 . A T 25 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,T:8:5:0:0:1,7:33,233:0.00,25.33:0.00,14.07:0.00,11.26:0.00,1.00:0.00,1.00:0.00,1.00:4,40:84.0,195.3:0,9:0,0:23,44:110,100:0,8:-,chr2 g.89868729A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868764 . T TATTAG 53 nt VT=INS;SST=Single;DP=26;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C,T,TATTAG,D:26:21:23:1:1,1,23,1:13,35,455,4:0.48,0.00,53.09,0.04:-0.01,0.00,25.84,0.05:0.49,0.00,27.26,-0.01:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:17,43,56,4:165.0,104.0,153.9,84.0:0,1,0,0:0,0,0,0:7,32,38,63:117,67,65,70:0,0,12,0:chr2 g.89868764_89868765insATTAG (intergenic),chr2 g.89868764_89868765insATTAG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89868765 rs374892539 G T 76 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,T,I:24:19:1:3:2,21,1:45,676,33:3.38,76.39,2.40:1.40,35.23,1.20:1.98,41.16,1.20:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:17,60,43:150.0,147.7,104.0:1,21,0:0,0,0:32,42,33:80,55,66:24,7,0:chr2 g.89868764G>T (intergenic),chr2 g.89868764G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89868780 . A T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,T:34:28:0:0:30,4:974,115:0.00,8.10:0.00,5.18:0.00,2.92:0.00,0.62:0.00,0.92:0.00,0.92:60,60:159.9,219.2:0,0:0,0:53,22:45,101:10,5:-,chr2 g.89868779A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868799 . G T 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:29:23:0:1:1,10,18:35,326,616:2.36,0.00,62.25:1.17,0.00,27.19:1.19,0.00,35.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:28,60,56:273.0,203.2,161.5:0,1,0:0,0,0:56,37,75:51,82,25:0,5,6:-,chr2 g.89868798G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868814 rs372777156 T C 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T,I:25:19:2:1:19,4,2:656,125,35:69.92,0.00,2.56:30.96,0.00,1.29:38.97,0.00,1.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:179.4,130.2,273.0:0,0,0:0,0,0:90,72,51:12,31,68:11,13,4:chr2 g.89868813T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868815 . G T 96 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:G,T:26:20:0:1:1,25:10,853:0.00,95.67:0.00,43.91:0.00,51.76:0.00,1.00:0.00,1.00:0.00,1.00:17,60:141.0,184.9:0,2:0,0:89,87:25,11:0,24:chr2 g.89868814G>T (intergenic),chr2 g.89868814G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89868846 . A C,G 20 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:2:A,C,G,T:9:7:0:1:1,6,1,1:34,184,35,33:0.00,19.71,2.97,2.77:0.00,12.20,-0.03,2.80:0.00,7.51,3.00,-0.03:0.00,0.99,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.99,0.00,0.00:60,28,17,2:277.0,248.3,165.0,269.0:0,0,0,0:0,0,0,0:84,95,94,92:30,31,30,33:0,10,0,0:chr2 g.89868845A>C (intergenic),chr2 g.89868845A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89868851 . G A 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:9:7:0:0:4,5:130,134:12.23,0.00:9.52,0.00:2.71,0.00:0.85,0.00:0.97,0.00:0.96,0.00:28,60:283.2,242.6:0,0:0,0:100,89:31,25:8,8:chr2 g.89868850G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868852 . T A 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,T:8:6:0:0:3,5:98,142:8.95,0.00:6.05,0.00:2.89,0.00:0.67,0.00:0.93,0.00:0.90,0.00:28,60:281.0,255.6:0,0:0,0:95,98:30,24:10,8:chr2 g.89868851T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89868865 . A T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,C,T:10:7:0:0:6,1,3:139,35,105:0.00,2.71,9.45:0.00,-0.18,4.72:0.00,2.89,4.72:0.00,0.00,0.95:0.00,0.00,0.89:0.00,0.00,0.86:28,17,60:272.2,277.0,222.0:0,0,0:0,0,0:109,102,113:15,8,11:8,0,10:-,chr2 g.89868864A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89868868 . T C 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:3:A,C,T:10:7:0:0:1,8,1:33,253,34:2.73,27.62,0.00:1.39,17.18,0.00:1.34,10.44,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:5,60,5:273.0,259.0,231.0:0,0,0:0,0,0:101,115,106:15,8,8:0,9,0:chr2 g.89868867T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869739 rs377096827 A C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:4:2:0:0:1,3:31,96:0.00,10.05:0.00,7.20:0.00,2.85:0.00,0.85:0.00,0.95:0.00,0.95:6,42:300.0,164.0:0,0:0,0:91,21:17,116:0,17:-,chr2 g.89869738A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869750 . A T 8 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,T:31:21:0:0:27,4:823,115:0.00,8.26:0.00,8.12:0.00,0.14:0.00,0.64:0.00,0.88:0.00,0.84:52,47:154.0,195.2:2,0:0,0:15,6:105,107:6,1:-,chr2 g.89869749A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869764 . C CGGATG 15 nt VT=INS;SST=Single;DP=37;NP=3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,CGGATG:36:24:10:0:27,9:795,213:0.00,15.43:0.00,13.09:0.00,2.35:0.00,0.99:0.00,0.99:0.00,0.99:52,47:181.9,177.7:0,1:0,0:26,26:92,91:10,7:-,chr2 g.89869764_89869765insGGATG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869778 . C G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,C,G,T,I:32:22:1:0:3,24,3,1,1:84,740,100,33,34:5.73,0.00,7.33,1.94,2.04:2.95,0.00,6.40,2.13,1.05:2.78,0.00,0.93,-0.19,1.00:0.00,0.00,0.88,0.00,0.00:0.00,0.00,0.78,0.00,0.00:0.00,0.00,0.80,0.00,0.00:47,53,28,47,42:173.7,173.0,116.7,138.0,168.0:0,0,0,0,0:0,0,0,0,0:49,35,45,40,43:73,89,72,76,96:8,11,7,0,0:-,chr2 g.89869777C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869786 . T C 7 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;NP=3;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:A,C,T:40:30:0:0:1,3,36:10,102,1165:-0.18,7.04,0.00:0.03,1.96,0.00:-0.20,5.08,0.00:0.00,0.37,0.00:0.00,0.79,0.00:0.00,0.80,0.00:4,13,54:134.0,263.0,167.5:0,0,0:0,0,0:51,57,49:68,61,69:0,10,15:chr2 g.89869785T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869798 . C G 24 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;NP=11;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,I,D:37:27:5:4:1,19,10,5,2:9,622,272,87,74:-0.04,0.00,23.65,5.85,2.11:-0.10,0.00,11.14,3.32,1.07:0.07,0.00,12.50,2.54,1.04:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:6,52,54,28,34:271.0,169.4,163.1,158.4,347.5:0,4,0,0,1:0,0,0,0,0:54,58,47,65,45:96,56,62,52,90:0,15,22,7,1:-,chr2 g.89869797C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869801 rs369905396 C T 7 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=128;NP=337 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,C,T:32:24:0:7:3,26,3:56,751,94:3.01,0.00,6.65:3.56,0.00,3.67:-0.55,0.00,2.97:0.00,0.00,0.88:0.00,0.00,0.81:0.00,0.00,0.77:34,54,44:142.3,158.6,223.7:1,0,0:0,0,0:66,65,15:53,45,124:16,17,12:-,chr2 g.89869800C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869806 . T G 8 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;NP=1;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:C,G,T:34:25:0:3:1,4,29:29,113,709:1.48,8.01,0.00:-0.19,4.17,0.00:1.67,3.84,0.00:0.00,0.62,0.00:0.00,0.89,0.00:0.00,0.87,0.00:6,44,54:271.0,218.0,168.4:0,1,6:0,0,0:62,59,64:88,76,50:0,13,17:chr2 g.89869805T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869823 . C G 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;NP=87 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,G:47:32:0:1:43,4:1338,116:0.00,7.67:0.00,3.63:0.00,4.04:0.00,0.56:0.00,0.85:0.00,0.89:53,26:173.5,189.2:5,0:0,0:86,72:37,38:19,17:-,chr2 g.89869822C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869846 rs375807857 C T 80 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:C,G,T,D:34:15:0:9:7,2,24,1:231,69,760,22:0.00,5.21,80.09,1.08:0.00,4.06,25.68,-0.01:0.00,1.15,54.41,1.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:36,34,53,22:207.0,214.5,204.0,269.0:0,0,0,0:0,0,0,0:58,100,89,90:60,39,43,51:25,10,22,0:-,chr2 g.89869845C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869850 . A T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G,T:40:22:0:3:36,1,3:1033,26,100:0.00,1.09,6.85:0.00,-0.14,3.64:0.00,1.24,3.21:0.00,0.00,0.37:0.00,0.00,0.69:0.00,0.00,0.81:53,11,34:205.7,287.0,174.0:2,0,0:0,0,0:86,102,102:49,49,34:31,0,8:-,chr2 g.89869849A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869857 . T G 15 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:G,T:38:20:0:4:6,32:197,942:15.38,0.00:2.21,0.00:13.16,0.00:0.88,0.00:0.92,0.00:0.98,0.00:36,54:224.3,207.2:0,1:0,0:52,99:50,28:12,28:chr2 g.89869856T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869860 rs369070567 G A 80 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,C,G,T:36:14:0:4:26,1,8,1:753,24,166,36:79.61,1.25,0.00,2.43:23.31,-0.02,0.00,1.24:56.31,1.27,0.00,1.19:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:53,4,40,44:226.1,107.0,166.4,248.0:1,0,1,0:0,0,0,0:96,100,105,74:40,45,15,65:31,0,24,0:chr2 g.89869859G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869863 rs373127003 C G 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:37:14:0:1:27,9,1:826,291,34:0.00,24.61,1.99:0.00,2.14,-0.12:0.00,22.46,2.11:0.00,0.99,0.00:0.00,0.96,0.00:0.00,1.00,0.00:40,54,39:199.2,250.6,236.0:3,2,1:0,0,0:106,91,94:35,55,48:31,24,0:-,chr2 g.89869862C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869874 . G T 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:G,T:31:12:0:2:26,5:812,143:0.00,10.77:0.00,1.66:0.00,9.11:0.00,0.80:0.00,0.82:0.00,0.95:53,36:226.6,199.4:3,0:0,0:89,111:41,24:34,7:-,chr2 g.89869873G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869883 . C G 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:C,G:32:12:0:0:29,3:894,106:0.00,7.71:0.00,-0.43:0.00,8.14:0.00,0.88:0.00,0.61:0.00,0.81:53,28:220.3,260.7:2,0:0,0:97,111:28,35:30,24:-,chr2 g.89869882C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869885 . A T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,C,G,T:29:11:0:0:18,1,3,7:561,20,72,231:0.00,0.77,5.03,19.96:0.00,-0.10,-0.14,2.27:0.00,0.88,5.16,17.69:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.99:54,39,40,36:232.6,236.0,172.3,226.9:1,1,0,0:0,0,0,0:84,106,113,86:56,36,26,21:34,0,12,21:-,chr2 g.89869884A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869898 rs375864884 T C 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,C,T,I:24:10:1:2:2,8,13,1:64,206,415,34:4.71,18.29,0.00,2.26:-0.23,7.04,0.00,-0.11:4.93,11.25,0.00,2.37:0.00,1.00,0.00,0.00:0.00,0.97,0.00,0.00:0.00,0.99,0.00,0.00:46,40,44,36:268.0,205.1,244.0,168.0:0,0,0,0:0,0,0,0:78,123,83,99:64,11,43,8:49,15,30,0:chr2 g.89869897T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869901 . T C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;NP=2;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,C,G,T:25:10:0:0:1,3,1,20:34,104,33,620:2.13,7.96,2.03,0.00:-0.14,2.51,-0.14,0.00:2.27,5.45,2.17,0.00:0.00,0.46,0.00,0.00:0.00,0.66,0.00,0.00:0.00,0.80,0.00,0.00:1,39,4,46:226.0,244.7,284.0,217.8:0,0,0,2:0,0,0,0:86,82,92,108:47,40,33,18:0,0,0,24:chr2 g.89869900T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869908 . C G 10 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,G:24:10:0:0:20,4:632,127:0.00,9.92:0.00,11.15:0.00,-1.23:0.00,0.68:0.00,0.78:0.00,0.91:46,29:227.2,262.0:2,0:0,0:115,58:12,67:18,7:-,chr2 g.89869907C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89869911 . T A 11 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,T:21:8:0:0:4,17:133,498:10.77,0.00:12.01,0.00:-1.23,0.00:0.70,0.00:0.77,0.00:0.90,0.00:29,46:262.0,236.5:0,0:0,0:61,115:64,21:7,19:chr2 g.89869910T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869921 rs370468594 C A,T 22 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:18:A,C,T:14:5:0:0:4,3,7:107,92,221:9.99,0.00,22.43:10.28,0.00,-0.30:-0.29,0.00,22.73:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:29,46,30:262.0,255.0,229.6:0,0,0:0,0,0:71,102,113:54,23,23:7,0,12:chr2 g.89869920C>A (intergenic),chr2 g.89869920C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89869935 rs372983804 G A 9 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:8:1:0:6:4,4:98,131:9.27,0.00:2.37,0.00:6.90,0.00:0.99,0.00:0.67,0.00:0.99,0.00:46,30:247.8,222.2:0,0:0,0:116,133:11,10:2,7:chr2 g.89869934G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869955 . G A 10 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:5:3:0:1:3,2:100,67:9.97,0.00:10.76,0.00:-0.79,0.00:0.78,0.00:0.94,0.00:0.87,0.00:15,46:264.3,133.5:0,0:0,0:95,61:23,22:5,34:chr2 g.89869954G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869956 . T G 7 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:G,T:5:3:0:1:3,2:75,64:7.45,0.00:8.24,0.00:-0.79,0.00:0.78,0.00:0.94,0.00:0.87,0.00:15,46:264.3,133.5:0,0:0,0:96,62:22,21:5,34:chr2 g.89869955T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869968 rs374687143 T C 7 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=192;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:C,G,T:4:3:0:0:2,1,1:66,24,34:6.65,2.15,0.00:6.95,2.28,0.00:-0.30,-0.13,0.00:0.51,0.00,0.00:0.89,0.00,0.00:0.67,0.00,0.00:15,15,46:267.0,259.0,267.0:0,0,0:0,0,0:113,108,109:4,10,34:10,0,0:chr2 g.89869967T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89869975 . A T 11 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:4:3:0:0:1,3:33,106:0.00,11.05:0.00,11.66:0.00,-0.60:0.00,0.85:0.00,0.99:0.00,0.83:46,15:267.0,264.3:0,0:0,0:116,115:27,3:0,5:-,chr2 g.89869974A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871138 rs368074808 T A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,C,T:6:3:0:0:3,1,2:75,12,68:7.40,0.76,0.00:3.12,-0.12,0.00:4.27,0.88,0.00:0.98,0.00,0.00:0.89,0.00,0.00:0.51,0.00,0.00:60,10,29:169.7,91.0,207.5:0,0,1:0,0,0:28,53,29:93,55,98:12,0,23:chr2 g.89871137T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89871154 rs371891606 G C,T 9 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:A,C,G,T:8:4:0:0:1,2,2,3:29,70,41,97:2.36,6.50,0.00,9.45:-0.06,4.89,0.00,3.15:2.42,1.61,0.00,6.30:0.00,0.00,0.00,0.67:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.90:10,2,60,55:91.0,245.5,128.0,222.7:0,0,0,0:0,0,0,0:69,14,38,73:39,101,91,77:0,2,6,1:chr2 g.89871153G>C (intergenic),chr2 g.89871153G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89871163 . C A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,C,I:9:5:1:0:6,2,1:139,22,2:14.74,0.00,-0.06:9.09,0.00,0.03:5.65,0.00,-0.10:0.99,0.00,0.00:0.99,0.00,0.00:0.93,0.00,0.00:29,60,2:196.8,149.5,198.0:0,0,0:0,0,0:36,68,25:71,76,94:22,15,0:chr2 g.89871162C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89871164 . C T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,C,T:9:5:0:0:1,5,3:13,128,95:0.60,0.00,8.63:0.73,0.00,1.21:-0.12,0.00,7.42:0.00,0.00,0.64:0.00,0.00,0.86:0.00,0.00,0.42:5,60,55:210.0,134.4,258.7:0,1,0:0,0,0:42,32,83:67,77,67:0,22,1:-,chr2 g.89871163C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871170 rs375195121 A T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,T:10:6:0:0:6,4:173,113:0.00,10.28:0.00,5.94:0.00,4.34:0.00,0.84:0.00,0.94:0.00,0.96:60,55:175.0,202.8:1,0:0,0:49,42:73,66:28,17:-,chr2 g.89871169A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871216 . C G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,G:14:9:0:0:11,3:342,106:0.00,8.88:0.00,2.83:0.00,6.04:0.00,0.56:0.00,0.84:0.00,0.89:60,53:177.1,201.0:1,1:0,0:83,44:25,56:23,4:-,chr2 g.89871215C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871222 rs372360826 G T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,T:13:9:0:0:10,3:307,106:0.00,8.98:0.00,4.55:0.00,4.43:0.00,0.58:0.00,0.87:0.00,0.89:60,53:162.8,221.0:0,0:0,0:92,60:17,32:28,14:-,chr2 g.89871221G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871241 rs374728923 T C 13 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:7:5:0:0:4,3:134,100:13.23,0.00:7.15,0.00:6.08,0.00:0.90,0.00:0.98,0.00:0.99,0.00:14,60:221.5,142.0:0,0:0,0:96,69:7,31:12,4:chr2 g.89871240T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89871367 rs377342982 A T 14 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,T:8:3:0:0:3,5:88,144:0.00,14.46:0.00,1.41:0.00,13.05:0.00,0.97:0.00,0.95:0.00,0.97:60,40:93.7,248.6:0,0:0,0:18,18:77,105:6,2:-,chr2 g.89871366A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871381 . A T 12 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,T:10:4:0:0:6,4:186,130:0.00,11.99:0.00,3.25:0.00,8.74:0.00,0.84:0.00,0.87:0.00,0.98:60,15:169.0,252.0:0,0:0,0:31,31:86,91:11,8:-,chr2 g.89871380A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871415 . C T 14 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,T:10:4:0:0:5,5:173,145:0.00,13.87:0.00,3.22:0.00,10.64:0.00,0.95:0.00,0.51:0.00,1.00:60,15:159.0,249.2:0,1:0,0:66,64:49,58:6,17:-,chr2 g.89871414C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871421 rs377362389 A T 12 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,T:10:4:0:0:6,4:164,129:0.00,11.90:0.00,3.05:0.00,8.86:0.00,0.84:0.00,0.87:0.00,0.98:60,15:165.7,265.5:0,0:0,0:81,61:40,55:10,9:-,chr2 g.89871420A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871425 rs370187653 A C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,C:9:3:0:0:1,8:32,273:0.00,29.75:0.00,5.26:0.00,24.49:0.00,1.00:0.00,1.00:0.00,1.00:60,56:0.0,246.8:0,0:0,0:131,74:19,47:0,10:-,chr2 g.89871424A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871438 rs371294762 T TC 12 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:T,TC:8:2:7:1:1,7:33,105:0.00,12.16:0.00,3.77:0.00,8.40:0.00,1.00:0.00,0.99:0.00,1.00:60,56:0.0,255.7:0,0:0,0:144,87:6,35:0,4:-,chr2 g.89871438_89871439insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871440 . A C 11 idl;mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,C,D:9:2:0:1:4,4,1:86,114,2:0.00,10.89,-0.17:0.00,3.10,-0.03:0.00,7.79,-0.14:0.00,0.85,0.00:0.00,0.74,0.00:0.00,0.98,0.00:60,15,2:182.0,265.5,184.0:3,4,1:0,0,0:101,81,108:26,35,21:12,9,0:-,chr2 g.89871439A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89871454 . G T 9 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,G,T:8:2:0:0:1,4,3:35,128,99:2.84,0.00,9.24:3.05,0.00,-0.10:-0.20,0.00,9.34:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.95:15,56,13:260.0,241.5,249.3:0,0,0:0,0,0:86,102,106:24,20,17:0,9,2:-,chr2 g.89871453G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872067 . T C 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:2:0:0:3,2:79,69:7.84,0.00:1.63,0.00:6.21,0.00:0.78,0.00:0.87,0.00:0.78,0.00:47,5:248.0,195.0:0,2:0,0:34,32:67,67:11,32:chr2 g.89872066T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872092 . C A 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:A,C:51:39:0:0:5,46:165,1521:11.78,0.00:4.55,0.00:7.23,0.00:0.72,0.00:0.94,0.00:0.95,0.00:47,60:172.0,173.0:0,5:0,0:14,26:42,85:2,8:chr2 g.89872091C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872094 . T G 164 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A,G,T,I,D:54:44:1:3:2,47,3,1,1:69,1473,77,17,3:4.95,164.28,0.00,0.55,-0.01:2.47,83.03,0.00,0.57,-0.01:2.47,81.26,0.00,-0.01,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:53,60,41,17,3:126.0,171.5,244.0,269.0,92.0:0,0,1,0,0:0,0,0,0,0:35,28,48,31,17:60,73,79,113,115:11,11,8,0,0:chr2 g.89872093T>G (intergenic),chr2 g.89872093T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89872096 . T A 163 nt VT=SNV;PN=G;NN=T;SST=Single;DP=51;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,T:51:41:0:3:46,5:1478,116:162.69,0.00:82.32,0.00:80.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,37:172.2,165.0:0,1:0,0:30,26:71,77:9,14:chr2 g.89872095T>A (intergenic),chr2 g.89872095T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89872097 . T A 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=58;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,T:58:48:0:3:7,51:239,1704:17.97,0.00:9.01,0.00:8.96,0.00:0.91,0.00:0.99,0.00:0.99,0.00:46,60:127.9,179.4:0,1:0,0:29,34:37,78:2,16:chr2 g.89872096T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872112 . G C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,G,T:65:51:0:0:7,56,2:229,1990,51:16.70,0.00,2.32:7.07,0.00,1.81:9.63,0.00,0.51:0.90,0.00,0.00:0.98,0.00,0.00:0.99,0.00,0.00:52,60,40:233.3,161.1,247.5:0,0,0:0,0,0:20,44,26:113,55,123:19,11,12:chr2 g.89872111G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872130 . T A 106 nt VT=SNV;PN=A;NN=T;SST=Single;DP=106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:106:85:0:0:40,66:1173,2154:105.75,0.00:54.96,0.00:50.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:179.0,175.0:0,30:0,0:25,59:90,56:8,13:chr2 g.89872129T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872133 . CATT C 38 idl,nt VT=DEL;SST=Single;DP=105;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CATT,G,T,C:101:85:0:30:75,1,1,24:2444,35,22,584:0.00,1.65,0.43,38.15:0.00,0.84,-0.15,25.66:0.00,0.81,0.58,12.49:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,38,8,60:170.6,70.0,204.0,228.7:0,0,0,29:0,0,0,0:36,43,59,65:85,69,90,62:15,0,0,11:-,chr2 g.89872134_89872136delATT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872136 . T G 152 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=62;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:62:45:0:45:1,44,17:30,1464,552:1.57,151.62,0.00:1.64,70.17,0.00:-0.07,81.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:2,56,54:131.0,183.3,192.5:0,0,1:0,0,0:41,31,52:92,85,78:0,8,20:chr2 g.89872135T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872138 . CAT C 46 idl,nt VT=DEL;SST=Single;DP=87;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CAT,G,T,C:87:64:0:34:1,57,1,1,27:8,1883,32,31,562:-0.21,0.00,1.45,1.35,45.61:-0.12,0.00,1.60,1.51,21.80:-0.09,0.00,-0.15,-0.15,23.81:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:26,55,2,17,60:83.0,185.6,172.0,269.0,189.2:0,1,0,0,27:0,0,0,0,0:77,35,54,80,68:28,84,70,64,62:0,10,0,0,10:-,chr2 g.89872139_89872140delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872142 . C G 72 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=97;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,I:97:71:1:0:68,28,1:2231,841,1:0.00,72.29,-0.30:0.00,35.01,-0.13:0.00,37.28,-0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:56,60,1:188.1,193.9,223.0:7,26,0:0,0,0:40,67,50:79,60,83:11,10,0:-,chr2 g.89872141C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872149 . T G 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=89;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:89:64:0:2:1,5,18,65:10,166,551,2129:-0.20,11.11,44.83,0.00:-0.04,3.39,14.36,0.00:-0.16,7.72,30.46,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:37,33,55,56:156.0,197.2,204.9,186.3:0,1,2,0:0,0,0,0:82,76,86,47:47,23,45,74:0,3,11,11:chr2 g.89872148T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872159 . A ATTCT 97 idl,nt VT=INS;SST=Single;DP=97;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,ATTCT:94:71:52:0:44,1,49:1414,34,1072:0.00,1.69,96.51:0.00,-0.08,48.50:0.00,1.77,48.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:56,13,56:203.5,144.0,192.2:4,1,3:0,0,0:82,102,56:44,26,64:14,0,10:-,chr2 g.89872159_89872160insTTCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872170 . T C 29 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=95 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,D:95:67:0:6:14,76,5:387,2493,43:28.60,0.00,0.90:5.11,0.00,0.51:23.48,0.00,0.39:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:55,60,45:205.0,195.0,158.6:0,52,0:0,0,0:105,75,85:26,50,44:6,13,2:chr2 g.89872169T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872173 rs372990122 A C 88 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.9631,C/.,G/0.03694;NP=59 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,I:83:57:3:8:51,28,1,3:1590,965,33,63:0.00,87.57,1.60,3.46:0.00,34.38,-0.13,1.76:0.00,53.19,1.72,1.71:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:56,56,13,50:190.7,209.5,144.0,171.7:47,1,0,0:0,0,0,0:74,100,116,80:47,30,12,40:10,11,0,1:-,chr2 g.89872172A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872174 . ACTCC A 85 idl,nt VT=DEL;SST=Single;DP=81;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTCC,A:80:55:0:51:38,42:1174,936:0.00,85.12:0.00,41.31:0.00,43.82:0.00,1.00:0.00,1.00:0.00,1.00:56,56:201.5,194.7:3,43:0,0:101,75:28,46:14,9:-,chr2 g.89872175_89872178delCTCC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872175 . C T 107 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,C,T:35:21:0:79:2,2,31:65,68,956:4.92,0.00,106.79:1.29,0.00,41.64:3.63,0.00,65.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,53,56:197.5,192.0,206.6:0,0,1:0,0,0:81,82,103:41,34,27:6,15,13:chr2 g.89872174C>T (intergenic),chr2 g.89872174C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89872179 rs535280962 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,C,G,T:85:56:0:3:9,1,70,5:296,35,2259,98:21.74,1.69,0.00,4.56:10.72,0.88,0.00,3.70:11.02,0.82,0.00,0.86:0.96,0.00,0.00,0.00:0.99,0.00,0.00,0.00:1.00,0.00,0.00,0.00:53,45,56,44:211.4,231.0,204.9,190.4:0,1,96,4:0,0,0,0:95,89,82,92:34,34,43,40:10,0,15,2:chr2 g.89872178G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89872180 . T TTGAA 87 idl,nt VT=INS;SST=Single;DP=89;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTGAA:88:60:45:0:44,44:1407,954:0.00,86.72:0.00,39.86:0.00,46.86:0.00,1.00:0.00,1.00:0.00,1.00:56,56:200.0,197.1:12,89:0,0:100,77:30,44:13,10:-,chr2 g.89872180_89872181insTGAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872192 . C G 137 nt VT=SNV;PN=T;NN=C;SST=Single;DP=85 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:85:57:0:0:41,43,1:1328,1417,8:0.00,136.90,-0.14:0.00,63.69,-0.01:0.00,73.22,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:55,56,15:201.9,193.8,227.0:0,0,0:0,0,0:111,93,68:21,28,63:11,9,0:-,chr2 g.89872191C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872208 . C G 85 nt VT=SNV;PN=C;NN=A;SST=Single;DP=71 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,I:71:47:2:0:2,33,30,4,2:55,1068,903,79,4:2.97,0.00,85.45,4.55,-0.39:-0.18,0.00,34.45,2.10,-0.19:3.15,0.00,51.00,2.45,-0.20:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:40,53,55,51,3:265.5,175.2,212.5,203.2,202.5:1,0,0,0,0:0,0,0,0,0:122,118,109,111,125:14,6,18,15,23:3,9,10,24,2:-,chr2 g.89872207C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872218 . C G 79 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:51:25:0:0:23,27,1:702,810,32:0.00,78.74,1.78:0.00,23.35,0.93:0.00,55.39,0.86:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:56,56,42:193.6,230.5,214.0:0,0,0:0,0,0:131,120,134:5,9,6:7,9,0:-,chr2 g.89872217C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872222 . C G 93 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:51:25:0:0:1,19,31:23,586,930:0.94,0.00,93.22:-0.05,0.00,31.31:1.00,0.00,61.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:23,56,56:230.0,193.4,234.6:0,0,0:0,0,0:106,135,126:44,2,5:0,7,7:-,chr2 g.89872221C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872228 . A G 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:28:15:0:0:5,23:172,611:0.00,65.86:0.00,20.97:0.00,44.89:0.00,1.00:0.00,1.00:0.00,1.00:46,56:262.6,231.4:0,0:0,0:124,132:13,0:9,7:-,chr2 g.89872227A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872230 . A G 75 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A,G,T:26:14:0:0:2,23,1:44,674,12:0.00,75.23,0.39:0.00,18.03,0.40:0.00,57.20,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:56,48,40:248.5,246.3,181.0:0,0,0:0,0,0:104,132,141:27,2,-10:2,6,0:chr2 g.89872229A>G (intergenic),chr2 g.89872229A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89872247 . T C,G 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:84:C,G,T:12:8:0:0:4,6,2:119,181,43:11.55,18.55,0.00:6.54,6.62,0.00:5.01,11.93,0.00:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.99,0.00:50,46,56:245.0,263.2,244.5:0,0,0:0,0,0:130,129,117:4,17,20:12,7,1:chr2 g.89872246T>C (intergenic),chr2 g.89872246T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89872260 . C T 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:6:2:0:0:1,5:36,143:0.00,15.51:0.00,5.49:0.00,10.01:0.00,0.99:0.00,0.98:0.00,1.00:5,46:231.0,242.2:0,0:0,0:40,134:81,13:0,5:-,chr2 g.89872259C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89872372 . A C 7 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,C:4:4:0:0:2,2:69,70:0.00,6.75:0.00,3.22:0.00,3.53:0.00,0.51:0.00,0.51:0.00,0.89:60,19:27.5,232.5:0,0:0,0:28,90:122,1:3,33:-,chr2 g.89872371A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89873313 . A C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:5:3:0:0:1,4:32,143:0.00,15.12:0.00,3.63:0.00,11.49:0.00,0.96:0.00,0.99:0.00,0.96:60,21:29.0,176.5:0,0:0,0:79,31:72,62:0,20:-,chr2 g.89873312A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89873337 . G C 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,G:4:2:0:0:2,2:70,57:6.75,0.00:3.68,0.00:3.07,0.00:0.51,0.00:0.79,0.00:0.51,0.00:21,60:159.5,97.0:0,0:0,0:40,89:50,36:5,13:chr2 g.89873336G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89873368 . A C 7 mq,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:4:2:0:0:2,2:66,70:0.00,6.75:0.00,1.69:0.00,5.06:0.00,0.51:0.00,0.79:0.00,0.51:60,4:77.5,180.5:0,0:0,0:105,86:14,9:29,20:-,chr2 g.89873367A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875099 rs376325540 C G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,C,G:11:10:0:0:1,6,4:33,184,122:2.49,0.00,11.18:1.18,0.00,11.47:1.31,0.00,-0.29:0.00,0.00,0.82:0.00,0.00,0.98:0.00,0.00,0.76:2,41,36:200.0,187.2,198.8:0,1,0:0,0,0:21,11,50:83,104,83:0,7,7:-,chr2 g.89875098C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875148 rs370999979 G C 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,G,D:13:12:0:3:5,6,2:176,185,31:16.65,0.00,2.06:13.30,0.00,2.17:3.35,0.00,-0.11:0.91,0.00,0.00:0.99,0.00,0.00:0.86,0.00,0.00:21,36,24:217.4,179.2,235.0:0,4,0:0,0,0:57,76,83:73,31,48:1,18,19:chr2 g.89875147G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875154 rs375606342 A G 8 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,C,G:11:10:0:4:5,2,4:139,65,88:0.00,5.54,7.94:0.00,2.25,4.55:0.00,3.29,3.39:0.00,0.00,0.82:0.00,0.00,0.98:0.00,0.00,0.84:24,16,21:181.2,166.5,253.8:2,0,1:0,0,0:64,81,70:66,49,50:1,18,9:-,chr2 g.89875153A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875156 . G A 9 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G,D:12:11:0:5:3,8,1:102,221,16:8.83,0.00,0.73:5.81,0.00,0.80:3.03,0.00,-0.08:0.59,0.00,0.00:0.93,0.00,0.00:0.75,0.00,0.00:41,21,16:205.3,213.6,140.0:1,1,0:0,0,0:61,66,59:53,62,66:0,4,0:chr2 g.89875155G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875169 rs377010656 C G 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,C,G,T:15:13:0:0:1,4,8,2:11,143,270,45:0.39,0.00,27.31,3.49:0.45,0.00,22.41,3.61:-0.06,0.00,4.89,-0.12:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.97,0.00:36,30,24,16:209.0,162.0,190.6,212.0:0,2,0,0:0,0,0,0:125,76,88,77:12,36,29,50:0,2,9,1:-,chr2 g.89875168C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875203 rs539174007 A G 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4265,G/0.5735;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,C,G:11:8:0:0:3,1,7:99,26,227:0.00,1.91,23.35:0.00,1.96,16.72:0.00,-0.04,6.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:16,9,30:176.0,144.0,188.4:0,0,0:0,0,0:118,113,118:13,17,13:9,0,8:-,chr2 g.89875202A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875290 . A C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,C:28:20:0:0:21,7:635,206:0.00,17.11:0.00,11.69:0.00,5.42:0.00,0.96:0.00,0.85:0.00,0.99:59,54:162.2,255.9:0,1:0,0:14,29:69,102:9,7:-,chr2 g.89875289A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875294 . G T 7 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G,T:33:24:0:0:2,28,3:43,918,96:2.21,0.00,6.75:2.18,0.00,3.38:0.03,0.00,3.38:0.00,0.00,0.41:0.00,0.00,0.80:0.00,0.00,0.80:52,59,18:222.0,195.8,239.3:0,0,0:0,0,0:22,25,10:108,90,80:13,10,4:-,chr2 g.89875293G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875296 . A T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G,T:33:23:0:0:25,1,7:784,35,215:0.00,2.13,17.55:0.00,1.07,9.72:0.00,1.06,7.82:0.00,0.00,0.95:0.00,0.00,0.99:0.00,0.00,0.99:59,7,54:184.7,35.0,262.7:0,0,0:0,0,0:22,19,35:76,25,96:11,0,7:-,chr2 g.89875295A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875304 . G C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;NP=124 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:C,G:37:26:0:0:6,31:213,958:17.05,0.00:10.22,0.00:6.83,0.00:0.88,0.00:0.97,0.00:0.98,0.00:56,59:145.3,210.1:0,0:0,0:20,34:50,85:5,12:chr2 g.89875303G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875328 . G A 14 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:36:24:0:0:6,30:185,969:14.33,0.00:7.82,0.00:6.50,0.00:0.89,0.00:0.68,0.00:0.98,0.00:47,59:232.3,186.6:6,11:0,0:46,54:77,51:14,14:chr2 g.89875327G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875329 rs367850023 C G 20 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,G,I:33:22:9:0:17,8,8:543,231,204:0.00,19.92,15.32:0.00,6.16,4.38:0.00,13.76,10.94:0.00,0.98,0.00:0.00,0.99,0.00:0.00,1.00,0.00:52,59,51:170.0,218.2,267.6:1,0,1:0,0,0:53,74,51:26,57,77:8,3,19:-,chr2 g.89875328C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875333 . G C 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;NP=93 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,C,G,T:35:23:0:0:1,6,27,1:31,205,828,35:1.70,16.57,0.00,2.10:1.90,8.49,0.00,1.08:-0.20,8.08,0.00,1.02:0.00,0.89,0.00,0.00:0.00,0.96,0.00,0.00:0.00,0.98,0.00,0.00:2,44,59,29:287.0,121.2,214.3,238.0:0,0,1,0:0,0,0,0:45,49,69,41:70,17,52,70:0,2,10,0:chr2 g.89875332G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875334 . G T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;NP=69 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,G,T:38:26:0:0:1,31,6:19,1040,143:0.50,0.00,10.10:0.70,0.00,5.24:-0.20,0.00,4.87:0.00,0.00,0.88:0.00,0.00,0.96:0.00,0.00,0.98:10,59,53:178.0,197.5,213.3:0,2,0:0,0,0:52,64,70:70,51,49:0,13,26:-,chr2 g.89875333G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875343 rs372202837 T C,G 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:10:C,G,T,I:33:22:1:1:7,18,7,1:219,545,209,10:19.81,55.91,0.00,0.16:10.61,21.74,0.00,0.21:9.20,34.18,0.00,-0.05:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:44,54,59,10:128.6,249.5,193.4,178.0:0,0,0,0:0,0,0,0:60,85,78,61:10,46,46,61:4,10,27,0:chr2 g.89875342T>C (intergenic),chr2 g.89875342T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89875349 . G C 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:21:0:0:17,16:580,528:56.19,0.00:22.78,0.00:33.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,59:244.7,171.9:0,1:0,0:84,74:48,29:11,20:chr2 g.89875348G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875365 . A T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:31:15:0:0:12,1,18:337,36,500:0.00,2.42,49.72:0.00,-0.06,20.04:0.00,2.47,29.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:59,1,54:192.7,235.0,245.5:0,0,3:0,0,0:100,111,96:22,8,34:11,0,15:-,chr2 g.89875364A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875368 . C G 51 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:30:14:0:4:1,11,18:35,336,514:2.34,0.00,51.34:1.20,0.00,15.02:1.14,0.00,36.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,59,50:206.0,188.5,239.6:0,1,0:0,0,0:48,98,108:38,21,21:0,12,6:-,chr2 g.89875367C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875369 rs368357485 T G 18 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,C,G,T:32:16:0:4:3,1,7,21:73,36,220,591:4.82,2.29,18.49,0.00:0.41,1.19,7.61,0.00:4.41,1.10,10.89,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.99,0.00:59,12,53,54:148.3,255.0,175.1,243.2:1,0,0,0:0,0,0,0:90,91,95,112:35,38,25,18:41,0,15,7:chr2 g.89875368T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875371 rs534195127 G A 79 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:30:14:0:4:25,5:735,140:79.47,0.00:25.59,0.00:53.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,59:228.4,183.4:0,1:0,0:111,92:16,33:10,41:chr2 g.89875370G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875382 rs372239604 A T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,G,T:34:17:0:0:27,1,6:876,34,200:0.00,2.00,16.07:0.00,1.04,4.91:0.00,0.95,11.16:0.00,0.00,0.89:0.00,0.00,0.53:0.00,0.00,0.98:59,42,51:219.3,206.0,231.5:0,0,3:0,0,0:118,62,104:9,24,21:10,0,11:-,chr2 g.89875381A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875394 . G C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:C,G:27:13:0:0:3,24:101,781:7.44,0.00:4.20,0.00:3.24,0.00:0.44,0.00:0.70,0.00:0.84,0.00:52,54:227.7,236.2:0,0:0,0:105,129:26,1:3,11:chr2 g.89875393G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875407 . C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T:8:5:0:2:1,7:35,208:0.00,22.82:0.00,10.41:0.00,12.41:0.00,1.00:0.00,1.00:0.00,1.00:42,51:206.0,237.6:0,0:0,0:87,128:-1,10:0,9:-,chr2 g.89875406C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875408 . A G 9 sb;end;mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G,T:8:5:0:0:4,3,1:133,101,30:0.00,9.44,2.34:0.00,1.42,2.46:0.00,8.02,-0.12:0.00,0.67,0.00:0.00,0.90,0.00:0.00,0.93,0.00:53,11,1:205.0,233.3,259.0:2,0,0:0,0,0:114,123,116:17,9,10:8,3,0:-,chr2 g.89875407A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89875642 rs369228276 A C,T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:34:A,C,G,T:6:5:0:0:1,2,1,2:34,68,13,67:0.00,6.62,0.93,6.52:0.00,3.40,1.01,4.95:0.00,3.22,-0.08,1.57:0.00,0.42,0.00,0.00:0.00,0.86,0.00,0.00:0.00,0.81,0.00,0.00:5,24,53,57:150.0,210.5,35.0,219.5:0,0,1,1:0,0,0,0:142,67,68,66:-25,15,45,42:0,17,0,9:chr2 g.89875641A>C (intergenic),chr2 g.89875641A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89875947 . T G 10 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:5:4:0:1:3,2:99,29:9.89,0.00:6.72,0.00:3.18,0.00:0.78,0.00:0.97,0.00:0.94,0.00:40,10:232.7,184.0:0,0:0,0:4,26:88,81:2,17:chr2 g.89875946T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875967 . T A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,T:6:5:0:0:3,3:99,91:9.53,0.00:4.91,0.00:4.61,0.00:0.98,0.00:0.96,0.00:0.98,0.00:37,12:201.3,167.7:0,0:0,0:22,45:68,49:4,16:chr2 g.89875966T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89875968 rs369683614 T C,G 15 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:C,G,T:6:5:0:0:4,1,1:140,29,23:14.73,2.52,0.00:7.60,1.30,0.00:7.13,1.22,0.00:0.93,0.00,0.00:0.99,0.00,0.00:0.93,0.00,0.00:40,10,4:203.2,253.0,115.0:0,0,0:0,0,0:24,64,30:63,48,73:2,0,0:chr2 g.89875967T>C (intergenic),chr2 g.89875967T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89875973 . G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:7:6:0:0:4,3:141,104:13.93,0.00:7.15,0.00:6.78,0.00:0.90,0.00:0.99,0.00:0.90,0.00:42,12:196.5,167.7:0,0:0,0:29,51:58,43:2,16:chr2 g.89875972G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89876007 . T A 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:210:23.86:9.89:13.97:1.00:1.00:1.00:42:192.3:0:0:65:24:3:chr2 g.89876006T>A (intergenic),chr2 g.89876006T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89876011 . A C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,C:6:5:0:0:1,5:34,174:0.00,18.61:0.00,9.70:0.00,8.92:0.00,0.99:0.00,1.00:0.00,0.99:4,40:115.0,208.4:0,0:0,0:73,68:30,23:0,2:-,chr2 g.89876010A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89876857 . C G 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,G:23:20:0:0:6,17:193,550:0.00,57.23:0.00,37.24:0.00,19.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:144.2,158.9:1,0:0,0:30,48:101,74:6,10:-,chr2 g.89876856C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89876860 rs374877728 T A 69 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,T:22:19:0:0:19,3:641,99:69.36,0.00:44.48,0.00:24.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:159.7,134.3:19,1:0,0:51,26:71,78:13,9:chr2 g.89876859T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89876862 . T TGCAGG 39 nt VT=INS;SST=Single;DP=24;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:T,TGCAGG:24:21:20:0:4,20:134,362:0.00,39.45:0.00,24.71:0.00,14.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:125.5,155.5:0,0:0,0:31,50:76,71:13,17:-,chr2 g.89876862_89876863insGCAGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89876869 . G T 43 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:24:21:0:0:1,7,16:34,215,416:2.37,0.00,42.95:2.41,0.00,26.20:-0.04,0.00,16.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:13,60,60:169.0,153.6,153.8:0,0,0:0,0,0:55,52,67:86,70,54:0,13,18:-,chr2 g.89876868G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89876872 rs369315093 C T 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4998,T/0.5002;NP=264 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C,T:23:20:0:0:1,22:34,703:0.00,78.98:0.00,52.32:0.00,26.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:65.0,160.3:0,0:0,0:29,61:120,61:0,10:chr2 g.89876871C>T (intergenic),chr2 g.89876871C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89876897 . T TCATCC 44 nt VT=INS;SST=Single;DP=30;NP=1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TCATCC:30:26:21:0:1,8,21:33,247,420:2.18,0.00,43.55:1.07,0.00,26.28:1.11,0.00,17.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:2,60,60:128.0,199.5,152.1:0,1,0:0,0,0:18,42,88:56,55,36:0,23,15:-,chr2 g.89876897_89876898insCATCC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89876940 rs370207791 T A 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=263 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:A,T:9:6:0:0:7,2:234,42:24.74,0.00:12.38,0.00:12.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,60:185.6,96.5:0,0:0,0:125,76:9,35:6,15:chr2 g.89876939T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89876977 . A G,T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:G,T:4:3:0:0:1,3:31,67:2.98,7.69:2.98,3.94:0.00,3.75:0.00,0.85:0.00,0.99:0.00,0.83:60,46:65.0,241.0:0,0:0,0:129,115:20,4:0,4:chr2 g.89876976A>G (intergenic),chr2 g.89876976A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89876990 . C A 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:128:14.71:10.93:3.78:1.00:1.00:1.00:60:197.0:0:0:130:-1:7:chr2 g.89876989C>A (intergenic),chr2 g.89876989C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89877470 rs375174518 G A 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:11:6:0:0:6,5:182,90:17.79,0.00:10.23,0.00:7.55,0.00:0.98,0.00:0.99,0.00:1.00,0.00:56,49:225.7,178.4:0,0:0,0:56,59:77,68:9,12:chr2 g.89877469G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89877486 rs368066633 T A,C 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=323 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:A,C,T:14:9:0:2:11,1,2:340,36,23:36.81,2.87,0.00:19.68,-0.02,0.00:17.14,2.88,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:49,27,40:191.6,299.0,212.5:0,0,0:0,0,0:63,70,81:57,70,47:12,0,6:chr2 g.89877485T>A (intergenic),chr2 g.89877485T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89877501 rs372261201 T A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5112,A/0.4888;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,T:13:8:0:1:6,7:186,189:17.58,0.00:2.48,0.00:15.09,0.00:0.97,0.00:0.99,0.00:1.00,0.00:41,56:199.0,225.4:0,0:0,0:74,79:59,53:21,6:chr2 g.89877500T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89877561 . G A 6 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,G,D:5:2:0:4:2,2,1:67,68,27:6.41,0.00,2.28:1.74,0.00,1.24:4.68,0.00,1.05:0.46,0.00,0.00:0.70,0.00,0.00:0.46,0.00,0.00:42,41,27:151.0,245.5,137.0:0,0,0:0,0,0:81,113,85:13,27,66:24,13,0:chr2 g.89877560G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89877562 . T A 6 idl;mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,T:5:2:0:3:2,3:69,103:6.39,0.00:3.37,0.00:3.02,0.00:0.46,0.00:0.70,0.00:0.87,0.00:15,42:203.0,207.3:1,0:0,0:107,101:22,23:1,27:chr2 g.89877561T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89877564 . G C 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:5:2:0:1:2,3:70,103:6.49,0.00:-0.33,0.00:6.83,0.00:0.46,0.00:0.70,0.00:0.87,0.00:41,42:245.5,180.0:0,1:0,0:116,108:24,15:13,3:chr2 g.89877563G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89878438 . C A 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,C:5:3:0:0:3,2:77,23:7.67,0.00:5.00,0.00:2.66,0.00:0.78,0.00:0.94,0.00:0.94,0.00:53,16:124.7,236.0:0,0:0,0:14,18:113,121:3,4:chr2 g.89878437C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89878504 rs558623334 G A 11 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6741,GTGGAA/0.3259;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,G:6:4:0:0:4,2:112,57:11.41,0.00:2.40,0.00:9.01,0.00:0.93,0.00:0.99,0.00:0.99,0.00:16,11:215.8,104.5:0,1:0,0:86,50:49,45:5,25:chr2 g.89878503G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879106 rs377492685 A G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,G,T:7:6:0:0:1,5,1:34,169,33:0.00,18.01,2.87:0.00,10.62,1.43:0.00,7.39,1.43:0.00,0.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:9,40,56:231.0,175.8,167.0:0,0,0:0,0,0:40,20,52:28,80,61:0,13,0:-,chr2 g.89879105A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879171 rs371302978 C G 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=222 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,C,G:11:9:0:0:1,1,9:33,36,302:2.70,0.00,32.97:1.35,0.00,16.18:1.35,0.00,16.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,32,44:63.0,165.0,148.2:0,0,0:0,0,0:74,29,85:26,44,17:0,0,14:-,chr2 g.89879170C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879179 . C G 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,G:9:7:0:0:2,7:68,236:0.00,24.87:0.00,11.83:0.00,13.03:0.00,1.00:0.00,1.00:0.00,1.00:42,44:114.0,173.9:1,0:0,0:59,93:27,19:22,13:-,chr2 g.89879178C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879184 rs373385317 T TGCAGG 13 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TGCAGG:8:6:6:0:2,6:46,126:0.00,12.75:0.00,7.20:0.00,5.54:0.00,1.00:0.00,1.00:0.00,1.00:32,44:148.0,182.2:0,0:0,0:65,100:14,14:19,15:-,chr2 g.89879184_89879185insGCAGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879200 rs371024789 A G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:6:3:0:0:1,5:34,157:0.00,16.91:0.00,4.76:0.00,12.15:0.00,0.99:0.00,1.00:0.00,1.00:32,44:165.0,197.6:0,1:0,0:62,124:11,-6:0,14:-,chr2 g.89879199A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879206 rs374471254 A C,G 7 end;mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C,G,T:5:2:0:0:1,1,2,1:28,33,68,10:0.00,2.98,6.74,0.70:0.00,0.00,1.74,0.79:0.00,2.98,5.00,-0.10:0.00,0.00,0.46,0.00:0.00,0.00,0.70,0.00:0.00,0.00,0.87,0.00:44,3,40,36:138.0,198.0,197.0,222.0:1,0,0,0:0,0,0,0:147,130,96,116:-24,-12,5,16:0,0,28,0:chr2 g.89879205A>C (intergenic),chr2 g.89879205A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89879208 rs368680159 T A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,T:5:2:0:0:4,1:126,29:13.42,0.00:4.87,0.00:8.55,0.00:0.96,0.00:0.97,0.00:1.00,0.00:40,44:203.5,138.0:0,1:0,0:122,149:3,-26:7,0:chr2 g.89879207T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879300 rs372254012 C T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,T:6:4:0:0:3,3:83,90:0.00,8.63:0.00,4.66:0.00,3.97:0.00,0.98:0.00,0.51:0.00,0.51:41,51:191.3,175.7:0,0:0,0:37,42:78,85:1,20:-,chr2 g.89879299C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879373 rs377187417 G A 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:7:5:0:0:4,3:111,104:10.90,0.00:6.28,0.00:4.61,0.00:0.90,0.00:0.98,0.00:0.98,0.00:51,54:200.2,204.7:0,0:0,0:110,60:13,15:10,4:chr2 g.89879372G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879394 rs373216286 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:128:14.71:8.89:5.82:1.00:1.00:1.00:54:244.2:0:0:124:-1:7:chr2 g.89879393C>T (intergenic),chr2 g.89879393C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89879853 rs376312230 C T 10 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:7:6:0:0:3,4:102,106:0.00,10.40:0.00,7.38:0.00,3.02:0.00,0.90:0.00,0.99:0.00,0.85:40,12:216.0,240.2:0,0:0,0:27,30:97,99:12,22:-,chr2 g.89879852C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879865 rs370989531 A G 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,G,T:12:7:0:0:4,6,2:72,202,62:0.00,20.08,5.29:0.00,17.58,4.20:0.00,2.50,1.09:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.98,0.00:35,40,31:224.5,240.3,194.0:0,0,0:0,0,0:27,32,20:93,90,99:9,13,12:-,chr2 g.89879864A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879880 rs377011539 C G,T 42 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:38:G,T,I:15:7:1:5:12,2,1:378,64,12:42.36,5.60,0.59:10.79,4.10,0.59:31.57,1.50,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,41,12:231.5,263.5,239.0:0,0,0:0,0,0:37,30,27:86,78,96:17,6,0:chr2 g.89879879C>G (intergenic),chr2 g.89879879C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 89879884 rs370284679 A G 22 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,C,G,T:15:7:0:5:3,2,8,2:89,34,215,66:0.00,2.55,22.10,5.62:0.00,2.44,10.08,2.64:0.00,0.11,12.02,2.98:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:14,35,41,16:180.3,242.5,224.0,262.5:0,0,0,0:0,0,0,0:35,40,34,39:93,75,81,81:2,4,19,17:-,chr2 g.89879883A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879898 . T A 14 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,T:18:9:0:0:5,13:159,403:13.67,0.00:2.44,0.00:11.23,0.00:0.87,0.00:0.92,0.00:0.97,0.00:14,47:222.0,206.8:0,0:0,0:50,43:77,70:1,14:chr2 g.89879897T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879917 . A T 12 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;NP=5;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G,T:24:15:0:0:16,3,5:452,70,142:0.00,4.84,11.58:0.00,2.98,3.39:0.00,1.86,8.19:0.00,0.00,0.83:0.00,0.00,0.94:0.00,0.00,0.97:47,40,19:177.8,192.0,267.8:1,0,0:0,0,0:61,72,89:52,41,34:10,3,19:-,chr2 g.89879916A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879919 . G A 7 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,G:23:14:0:0:3,20:99,628:7.47,0.00:2.48,0.00:4.99,0.00:0.47,0.00:0.78,0.00:0.85,0.00:14,47:215.3,197.7:0,1:0,0:72,63:34,51:1,13:chr2 g.89879918G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879920 . G C 10 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;NP=1;NP=2;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,G,T:23:14:0:0:5,17,1:129,572,33:10.18,0.00,2.09:5.45,0.00,1.08:4.73,0.00,1.01:0.84,0.00,0.00:0.93,0.00,0.00:0.97,0.00,0.00:19,47,41:242.0,182.3,270.0:0,0,0:0,0,0:83,64,76:49,49,28:11,9,0:chr2 g.89879919G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879928 . T A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:A,C,T:27:18:0:0:3,1,23:103,35,707:7.70,2.17,0.00:6.82,1.12,0.00:0.87,1.05,0.00:0.44,0.00,0.00:0.79,0.00,0.00:0.82,0.00,0.00:47,41,40:199.7,270.0,192.3:0,0,0:0,0,0:59,84,80:52,20,40:1,0,14:chr2 g.89879927T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879933 . T A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;NP=10;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,C,T:26:16:0:0:3,1,22:92,34,683:6.65,2.09,0.00:4.20,1.08,0.00:2.45,1.01,0.00:0.45,0.00,0.00:0.77,0.00,0.00:0.82,0.00,0.00:40,9,47:184.3,67.0,206.4:1,0,1:0,0,0:85,24,85:36,36,33:3,0,13:chr2 g.89879932T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879941 . A G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:27:17:0:0:23,4:697,139:0.00,10.90:0.00,7.11:0.00,3.78:0.00,0.66:0.00,0.87:0.00,0.91:47,41:200.1,183.0:2,0:0,0:93,74:28,24:12,17:-,chr2 g.89879940A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879943 . T A 8 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;NP=17;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:A,C,T,I:26:16:2:0:3,1,20,2:103,32,654,14:7.85,1.92,0.00,-0.11:2.43,-0.16,0.00,-0.23:5.42,2.08,0.00,0.11:0.45,0.00,0.00,0.00:0.77,0.00,0.00,0.00:0.82,0.00,0.00,0.00:12,14,47,10:245.7,201.0,177.2,278.0:0,0,0,0:0,0,0,0:111,96,87,110:22,10,26,22:16,0,10,4:chr2 g.89879942T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 89879946 . A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;NP=36 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,C,G:25:15:0:0:20,1,4:637,34,114:0.00,2.13,8.64:0.00,2.36,6.44:0.00,-0.23,2.20:0.00,0.00,0.67:0.00,0.00,0.87:0.00,0.00,0.91:47,16,41:195.9,229.0,204.8:1,0,0:0,0,0:98,94,94:21,24,19:15,0,6:-,chr2 g.89879945A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 89879981 rs372184653 G A 17 end;mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=354 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:8:2:0:0:5,3:165,102:16.59,0.00:1.67,0.00:14.91,0.00:0.97,0.00:0.88,0.00:0.97,0.00:19,47:186.8,221.3:0,0:0,0:134,132:-22,-4:3,2:chr2 g.89879980G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90372788 rs376573863 T A 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=619 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:171:19.94:16.07:3.88:1.00:1.00:1.00:43:128.8:0:0:16:133:5:chr2 g.90372787T>A (intergenic),chr2 g.90372787T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90372847 rs374277571 G A 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1038,T/0.8962;NP=580 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:7:0:0:8:249:28.69:20.93:7.75:1.00:1.00:1.00:43:122.0:0:0:75:75:14:chr2 g.90372846G>A (intergenic),chr2 g.90372846G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90372918 rs373685555 G C 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=292 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,G:11:9:0:0:3,8:96,242:8.23,0.00:3.81,0.00:4.42,0.00:0.60,0.00:0.91,0.00:0.83,0.00:41,40:89.0,152.2:0,0:0,0:69,72:81,79:1,45:chr2 g.90372917G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90372947 rs371467042 G A 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=311 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:9:6:0:0:4,5:132,164:12.42,0.00:4.55,0.00:7.87,0.00:0.85,0.00:0.96,0.00:0.97,0.00:40,41:131.2,131.2:0,0:0,0:76,103:68,48:24,31:chr2 g.90372946G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90373000 rs76823149 C G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2873,C/0.7127;NP=208 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G:6:2:0:0:1,5:34,150:0.00,16.18:0.00,3.80:0.00,12.38:0.00,0.99:0.00,0.98:0.00,0.99:31,40:201.0,200.0:0,0:0,0:16,90:135,53:0,16:-,chr2 g.90372999C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90373016 rs374593751 T G 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1705,C/0.8295;NP=494 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:2:0:0:7:236:26.94:3.93:23.01:1.00:1.00:1.00:40:203.7:0:0:89:62:33:chr2 g.90373015T>G (intergenic),chr2 g.90373015T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90373029 . G A 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:7:2:0:0:3,4:102,135:9.56,0.00:3.56,0.00:6.00,0.00:0.69,0.00:0.73,0.00:0.69,0.00:40,40:196.3,201.0:0,0:0,0:133,52:18,98:2,18:chr2 g.90373028G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90373056 rs75943168 C G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,G:6:0:0:0:2,4:65,140:0.00,14.25:0.00,0.00:0.00,14.25:0.00,0.93:0.00,0.00:0.00,0.93:31,40:222.5,186.8:0,0:0,0:109,107:38,43:37,22:-,chr2 g.90373055C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90381450 . G C 14 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;NP=494 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:118:13.70:1.99:11.71:1.00:1.00:1.00:40:96.5:0:0:102:48:25:chr2 g.90381449G>C (intergenic),chr2 g.90381449G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90413245 . T C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;PC=0.794 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:4:3:0:0:2,2:69,69:6.65,0.00:3.33,0.00:3.33,0.00:0.51,0.00:0.89,0.00:0.89,0.00:55,60:270.0,27.0:2,0:0,0:63,84:68,47:13,29:chr2 g.90413244T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90413249 rs376983555 A C 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,C:4:3:0:0:2,2:49,66:0.00,6.36:0.00,3.18:0.00,3.17:0.00,0.51:0.00,0.89:0.00,0.89:60,55:27.0,281.5:0,0:0,0:88,104:43,33:29,23:-,chr2 g.90413248A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90413857 . T G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;PC=0.133 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:G,T:7:6:0:0:3,4:97,115:9.06,0.00:2.34,0.00:6.72,0.00:0.69,0.00:0.95,0.00:0.83,0.00:40,50:200.0,10.5:0,0:0,0:57,24:54,127:5,5:chr2 g.90413856T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90413863 . C G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,G:7:6:0:0:4,3:122,99:0.00,9.26:0.00,2.39:0.00,6.87:0.00,0.69:0.00,0.95:0.00,0.83:50,40:10.5,198.3:0,0:0,0:30,68:121,43:5,5:-,chr2 g.90413862C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90413871 . T C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:7:6:0:0:3,4:102,131:9.56,0.00:2.64,0.00:6.92,0.00:0.69,0.00:0.95,0.00:0.83,0.00:40,50:191.3,10.5:0,0:0,0:76,38:35,113:5,5:chr2 g.90413870T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90413897 rs369935814 A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:14:12:0:0:11,3:347,107:0.00,8.97:0.00,2.36:0.00,6.61:0.00,0.56:0.00,0.90:0.00,0.69:50,40:4.9,200.0:0,0:0,0:14,97:137,14:12,5:-,chr2 g.90413896A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90413911 . A G 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:19:17:0:0:16,3:528,97:0.00,7.53:0.00,1.78:0.00,5.75:0.00,0.51:0.00,0.89:0.00,0.62:50,40:5.5,193.0:0,0:0,0:17,111:124,0:10,5:-,chr2 g.90413910A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90413924 . G T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;PC=0.040 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:G,T:18:16:0:0:15,3:519,99:0.00,7.81:0.00,2.07:0.00,5.74:0.00,0.52:0.00,0.89:0.00,0.64:50,40:4.4,200.0:0,0:0,0:30,124:112,-13:9,5:-,chr2 g.90413923G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414050 rs373395562 A G 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=23;PC=0.977 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:115:109:0:0:88,1,24,2:2867,6,676,69:0.00,-0.32,53.81,3.67:0.00,-0.27,41.45,2.70:0.00,-0.04,12.35,0.96:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,43,43,25:26.7,110.0,227.9,246.0:0,0,0,0:0,0,0,0:37,1,20,16:111,150,130,135:23,0,7,1:-,chr2 g.90414049A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414077 rs376370988 T G 150 nt VT=SNV;PN=G;NN=A;SST=Single;DP=175;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:175:163:0:0:10,52,113:302,1701,3354:19.87,150.23,0.00:16.00,109.64,0.00:3.87,40.60,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:45,50,60:156.5,214.0,30.0:0,0,0:0,0,0:23,23,43:112,126,106:18,11,25:chr2 g.90414076T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414085 . C T 77 nt VT=SNV;PN=G;NN=A;SST=Single;DP=188;NP=1;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:188:172:0:0:155,33:5120,988:0.00,76.74:0.00,48.49:0.00,28.26:0.00,1.00:0.00,1.00:0.00,1.00:60,44:69.7,206.3:0,0:0,0:43,30:103,118:23,13:-,chr2 g.90414084C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414086 . A G 167 nt VT=SNV;PN=C;NN=C;SST=Single;DP=188;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:188:172:0:0:126,60,2:4070,1892,45:0.00,166.99,1.46:0.00,115.61,1.51:0.00,51.38,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,44,40:39.4,200.1,196.5:0,0,0:0,0,0:50,22,25:97,123,115:25,11,0:-,chr2 g.90414085A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414093 . C T 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=204;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,G,T:204:187:0:0:184,1,19:6130,9,572:0.00,-0.36,39.00:0.00,-0.23,30.52:0.00,-0.13,8.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,46,43:82.9,180.0,234.2:0,0,0:0,0,0:46,129,17:98,21,131:24,0,10:-,chr2 g.90414092C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414097 . G A 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=221;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:221:201:0:0:21,200:724,6026:52.33,0.00:40.03,0.00:12.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:216.5,95.9:0,0:0,0:26,41:123,106:15,23:chr2 g.90414096G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414107 rs370204049 G A 106 nt VT=SNV;PN=G;NN=C;SST=Single;DP=234;DB;DBA=NA;PAF=NA;NP=517;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:234:207:0:0:43,1,189,1:1341,11,6257,11:106.38,-0.27,0.00,-0.27:65.43,-0.16,0.00,-0.21:40.95,-0.12,0.00,-0.06:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:44,50,60,49:179.1,11.0,88.0,48.0:0,0,0,0:0,0,0,0:42,122,46,23:107,28,100,128:18,0,25,0:chr2 g.90414106G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414108 . C T 76 nt VT=SNV;PN=G;NN=G;SST=Single;DP=242;NP=60;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:242:215:0:0:15,195,1,31:513,6478,10,1002:34.94,0.00,-0.30,75.75:21.57,0.00,-0.17,50.81:13.37,0.00,-0.13,24.94:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:43,60,19,50:207.1,83.7,101.0,173.7:0,0,0,0:0,0,0,0:27,55,117,28:124,90,-4,116:17,29,0,16:-,chr2 g.90414107C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414109 rs373587392 G A 119 nt VT=SNV;PN=C;NN=C;SST=Single;DP=240;DB;DBA=NA;PAF=NA;NP=673;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:240:213:0:0:46,193,1:1478,6275,11:118.97,0.00,-0.28:76.27,0.00,-0.16:42.70,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,60,43:179.0,87.3,192.0:0,0,0:0,0,0:42,47,96:106,101,55:18,25,0:chr2 g.90414108G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414152 rs374207862 A C,G 908 nt VT=SNV;PN=C;NN=T;SST=Single;DP=266;DB;DBA=NA;PAF=NA;NP=2749;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:55:C,G:266:196:0:0:21,245:704,8000:57.30,907.74:31.42,425.04:25.88,482.69:0.00,1.00:0.00,1.00:0.00,1.00:49,60:147.5,110.2:0,0:0,0:56,72:76,74:18,26:chr2 g.90414151A>C (intergenic),chr2 g.90414151A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90414224 rs368215182 C G 235 nt VT=SNV;PN=C;NN=T;SST=Single;DP=178;DB;DBA=NA;PAF=NA;NP=2502;NP=8;PC=0.982 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:178:86:0:0:16,86,75,1:513,2757,2481,23:38.83,0.00,235.29,0.44:17.86,0.00,57.78,-0.07:20.97,0.00,177.51,0.50:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,49,49,40:260.2,38.5,175.9,49.0:0,0,0,0:0,0,0,0:129,101,108,39:20,48,43,111:7,22,24,0:-,chr2 g.90414223C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414234 . G C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=167;NP=3;PC=0.768 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:167:63:0:0:20,146,1:628,4717,33:45.85,0.00,1.19:15.99,0.00,-0.08:29.86,0.00,1.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:33,50,40:227.7,100.8,286.0:0,0,0:0,0,0:134,114,17:14,35,134:8,21,0:chr2 g.90414233G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414241 rs372873926 A G 170 nt VT=SNV;PN=C;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=NA;NP=1950;PC=0.688 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:152:47:0:0:93,59:3080,1858:0.00,169.86:0.00,35.35:0.00,134.52:0.00,1.00:0.00,1.00:0.00,1.00:50,44:64.6,191.4:0,0:0,0:105,118:43,33:29,23:-,chr2 g.90414240A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414267 . A G 123 nt VT=SNV;PN=C;NN=G;SST=Single;DP=104;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:8:0:0:60,44:1963,1332:0.00,123.41:0.00,4.34:0.00,119.07:0.00,1.00:0.00,0.98:0.00,1.00:49,41:27.6,212.2:0,0:0,0:103,103:46,47:31,29:-,chr2 g.90414266A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414270 . C A 68 nt VT=SNV;PN=A;NN=T;SST=Single;DP=99;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:99:9:0:0:26,72,1:798,2356,10:67.59,0.00,-0.21:2.77,0.00,-0.02:64.82,0.00,-0.20:1.00,0.00,0.00:0.90,0.00,0.00:1.00,0.00,0.00:41,49,21:204.1,68.7,264.0:0,0,0:0,0,0:90,110,51:59,40,100:24,27,0:chr2 g.90414269C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414277 . C T 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=84;PC=0.038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:84:6:0:0:75,9:2280,286:0.00,20.49:0.00,-0.15:0.00,20.64:0.00,0.96:0.00,0.47:0.00,0.96:49,41:80.3,241.0:0,2:0,0:97,114:53,35:30,10:-,chr2 g.90414276C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414282 . A C 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,D:82:6:0:2:51,28,1,2:1566,903,8,4:0.00,81.37,-0.19,-0.52:0.00,3.15,-0.01,-0.02:0.00,78.22,-0.18,-0.50:0.00,1.00,0.00,0.00:0.00,0.90,0.00,0.00:0.00,1.00,0.00,0.00:49,41,33,3:21.3,227.7,192.0,185.0:0,0,0,2:0,0,0,0:103,100,93,115:48,48,44,35:34,23,0,5:-,chr2 g.90414281A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414285 . T G 18 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:G,T:79:6:0:0:8,71:253,2295:17.88,0.00:-0.14,0.00:18.02,0.00:0.93,0.00:0.45,0.00:0.93,0.00:33,49:243.4,83.1:4,0:0,0:117,101:32,46:8,30:chr2 g.90414284T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414317 . C T 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;NP=3;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,T:60:4:0:0:54,6:1713,188:0.00,13.21:0.00,-0.09:0.00,13.30:0.00,0.82:0.00,0.35:0.00,0.82:48,49:104.1,43.2:0,0:0,0:105,118:46,33:33,10:-,chr2 g.90414316C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90414329 . G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:3:0:0:15,35:459,1176:39.78,0.00:1.44,0.00:38.34,0.00:1.00,0.00:0.69,0.00:1.00,0.00:41,49:246.0,22.7:0,0:0,0:110,99:41,52:17,34:chr2 g.90414328G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414332 . G A 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;NP=1;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:1:0:0:13,34:350,1150:29.16,0.00:-0.07,0.00:29.23,0.00:1.00,0.00:0.52,0.00:1.00,0.00:41,49:254.0,27.6:0,0:0,0:113,100:38,51:16,33:chr2 g.90414331G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414337 rs376183931 T C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:1:0:0:12,31:387,973:33.37,0.00:-0.07,0.00:33.44,0.00:1.00,0.00:0.52,0.00:1.00,0.00:41,48:256.1,17.8:0,0:0,0:116,99:34,52:15,30:chr2 g.90414336T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414381 . G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:21:0:0:0:4,17:130,517:10.47,0.00:0.00,0.00:10.47,0.00:0.70,0.00:0.00,0.00:0.70,0.00:27,40:255.8,22.8:0,0:0,0:124,113:25,34:13,18:chr2 g.90414380G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90414389 rs377175067 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,T:18:0:0:0:4,14:117,466:9.47,0.00:0.00,0.00:9.47,0.00:0.73,0.00:0.00,0.00:0.73,0.00:40,40:244.2,8.1:0,0:0,0:125,115:17,35:7,17:chr2 g.90414388T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90447651 . C G,T 8 end;mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;PC=0.051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:G,T:4:1:0:0:3,1:69,31:7.93,2.98:0.00,2.98:7.93,0.00:0.85,0.00:0.83,0.00:0.99,0.00:43,7:47.7,101.0:0,0:0,0:25,8:107,42:3,0:chr2 g.90447650C>G (intergenic),chr2 g.90447650C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90447667 . A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;PC=0.230 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G:7:2:0:0:4,3:125,84:0.00,7.74:0.00,1.73:0.00,6.01:0.00,0.69:0.00,0.73:0.00,0.69:43,36:61.0,231.3:0,0:0,0:39,36:87,67:4,4:-,chr2 g.90447666A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90447675 . C T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;PC=0.974 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:9:3:0:0:3,6:105,171:0.00,17.45:0.00,5.45:0.00,12.00:0.00,0.99:0.00,0.97:0.00,0.99:43,36:47.7,241.5:0,0:0,0:49,29:83,74:3,15:-,chr2 g.90447674C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90447723 . C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;PC=0.703 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:12:4:0:0:8,4:228,98:0.00,8.39:0.00,-0.35:0.00,8.75:0.00,0.80:0.00,0.81:0.00,0.80:51,43:198.5,47.8:1,2:0,0:67,78:43,55:18,4:-,chr2 g.90447722C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90447747 . T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;PC=0.938 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:12:4:0:0:6,6:159,185:15.09,0.00:4.76,0.00:10.32,0.00:0.98,0.00:0.51,0.00:0.98,0.00:51,43:206.5,89.7:0,0:0,0:94,99:19,31:17,7:chr2 g.90447746T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90448666 . CCCG C 8 idl,rn VT=DEL;SST=Single;DP=7;PC=0.005;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CCCG,C:5:4:0:6:1,4:33,124:0.00,8.14:0.00,2.19:0.00,5.95:0.00,0.90:0.00,0.97:0.00,0.98:29,60:60.0,214.0:0,2:0,0:88,70:55,65:0,16:-,chr2 g.90448667_90448669delCCG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90448728 . G A 10 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;NP=1;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:5:3:0:0:3,2:97,46:9.69,0.00:1.30,0.00:8.39,0.00:0.78,0.00:0.94,0.00:0.97,0.00:30,15:215.3,40.0:0,0:0,0:103,64:28,21:27,61:chr2 g.90448727G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90448736 . T C 11 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;PC=0.375 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:2:0:0:3,1:104,33:10.85,0.00:1.63,0.00:9.23,0.00:0.85,0.00:0.95,0.00:0.85,0.00:30,15:215.3,48.0:0,0:0,0:111,11:20,30:27,0:chr2 g.90448735T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90449109 rs187191484 A G 13 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,G,T:6:2:0:1:1,4,1:32,119,12:0.00,12.60,0.84:0.00,1.47,-0.08:0.00,11.12,0.92:0.00,0.93,0.00:0.00,0.91,0.00:0.00,0.99,0.00:60,60,60:115.0,52.2,81.0:0,1,0:0,0,0:15,42,38:136,89,94:0,12,0:-,chr2 g.90449108A>G (intergenic):-,0.12:-,NOT_FOUND 2 90449158 . A ACCGCTGCCGCTTTTTGC 8 nt VT=INS;SST=Single;DP=9;PC=0.040;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,ACCGCTGCCGCTTTTTGC:9:3:3:0:6,3:162,88:0.00,7.75:0.00,1.52:0.00,6.22:0.00,0.64:0.00,0.73:0.00,0.64:60,60:40.2,113.0:0,0:0,0:79,65:51,86:12,19:-,chr2 g.90449158_90449159insCCGCTGCCGCTTTTTGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449164 . G C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,G:9:3:0:0:3,6:101,210:9.04,0.00:1.52,0.00:7.52,0.00:0.64,0.00:0.73,0.00:0.64,0.00:60,60:113.0,40.3:0,0:0,0:88,85:63,45:19,12:chr2 g.90449163G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90449553 . CGCGGCTTTT C 9 nt VT=DEL;SST=Single;DP=9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:CGCGGCTTTT,C:9:5:0:3:6,3:189,97:0.00,8.64:0.00,7.80:0.00,0.85:0.00,0.64:0.00,0.86:0.00,0.86:60,60:124.8,37.7:2,0:0,0:33,14:95,134:12,2:-,chr2 g.90449554_90449562delGCGGCTTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449567 rs539886083 C G 8 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5409,C/0.4591;NP=1;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,G,T,I:10:4:1:0:5,3,1,1:166,92,14,22:0.00,8.29,0.68,1.45:0.00,5.80,-0.09,-0.09:0.00,2.49,0.77,1.55:0.00,0.95,0.00,0.00:0.00,0.76,0.00,0.00:0.00,0.86,0.00,0.00:60,60,2,31:137.4,37.7,151.0,87.0:5,3,0,1:0,0,0,0:43,19,3,66:98,129,148,36:8,2,0,0:-,chr2 g.90449566C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449569 . CGCGGCTTTT C 9 nt VT=DEL;SST=Single;DP=10;NP=59;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:CGCGGCTTTT,C:9:4:0:5:5,4:139,124:0.00,9.41:0.00,1.81:0.00,7.60:0.00,0.84:0.00,0.87:0.00,0.94:60,60:100.2,134.2:4,2:0,0:21,45:127,96:3,8:-,chr2 g.90449570_90449578delGCGGCTTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449578 . T C 8 idl;end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T:8:5:0:4:3,5:91,146:8.24,0.00:5.39,0.00:2.85,0.00:0.67,0.00:0.90,0.00:0.85,0.00:60,60:89.0,100.2:1,0:0,0:0,30:151,118:0,3:chr2 g.90449577T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90449599 rs192806908 C T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T,I:12:6:1:0:5,6,1:154,161,2:0.00,15.62,-0.16:0.00,9.98,-0.09:0.00,5.64,-0.07:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.99,0.00:60,60,2:87.4,101.2,151.0:0,0,0:0,0,0:54,35,35:66,105,116:5,18,0:-,chr2 g.90449598C>T (intergenic):-,0.32:-,NOT_FOUND 2 90449632 . C CCCCCGCCGCCGCTGCTTTTTGCAT 14 nt VT=INS;SST=Single;DP=14;PC=0.001;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,G,T,CCCCCGCCGCCGCTGCTTTTTGCAT:14:5:5:0:6,1,2,5:196,13,44,146:0.00,0.50,3.28,13.60:0.00,-0.02,-0.03,10.36:0.00,0.52,3.32,3.24:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.98:60,13,35,60:51.8,118.0,194.0,69.6:0,0,0,0:0,0,0,0:83,107,56,47:65,8,80,97:10,0,19,7:-,chr2 g.90449632_90449633insCCCCGCCGCCGCTGCTTTTTGCAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449668 rs368338681 T C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=3;PC=0.347 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:C,T:20:9:0:0:4,16:140,502:11.57,0.00:1.25,0.00:10.31,0.00:0.71,0.00:0.82,0.00:0.96,0.00:60,60:112.5,61.6:0,0:0,0:131,59:8,76:8,25:chr2 g.90449667T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90449669 . G T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;NP=2;PC=0.556 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:G,T:21:10:0:0:17,4:515,137:0.00,11.17:0.00,1.22:0.00,9.95:0.00,0.70:0.00,0.83:0.00,0.96:60,60:62.5,112.5:0,0:0,0:74,132:48,7:34,8:-,chr2 g.90449668G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449696 rs143016991 C G 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:11:0:0:7,12:220,357:0.00,35.97:0.00,15.03:0.00,20.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:68.4,67.5:0,0:0,0:81,102:44,24:15,39:-,chr2 g.90449695C>G (intergenic):-,0.23:-,NOT_FOUND 2 90449701 . C CCGCCGCGGCTTTTTGT 19 nt VT=INS;SST=Single;DP=17;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCGCCGCGGCTTTTTGT:17:9:7:0:10,7:316,211:0.00,19.44:0.00,5.45:0.00,13.99:0.00,0.98:0.00,0.98:0.00,1.00:60,60:87.6,40.3:1,0:0,0:116,76:16,67:19,10:-,chr2 g.90449701_90449702insCGCCGCGGCTTTTTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449727 rs371356152 CTTT C 9 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=2;PC=0.074;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:CTTT,C:22:11:0:4:18,4:496,120:0.00,9.39:0.00,5.97:0.00,3.42:0.00,0.70:0.00,0.84:0.00,0.93:60,60:69.1,60.0:0,0:0,0:47,42:74,91:28,14:-,chr2 g.90449728_90449730delTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90449756 rs375537923 G C 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=427;PC=0.072 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:23:11:0:0:9,13,1:287,458,11:26.52,0.00,0.14:6.92,0.00,0.32:19.60,0.00,-0.18:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,41:93.0,41.3,109.0:0,0,0:0,0,0:76,53,89:52,42,48:32,27,0:chr2 g.90449755G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90449810 rs148108057 A G 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.1877,C/0.8123;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:6:0:1:14:433:49.95:12.37:37.58:1.00:1.00:1.00:60:81.9:0:0:101:40:27:chr2 g.90449809A>G (intergenic),chr2 g.90449809A>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 2 90450014 . CCCGCCTCGGCTTTCTG C 14 nt VT=DEL;SST=Single;DP=4;NP=7;PC=0.953;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:117:13.60:0.00:13.60:1.00:0.00:1.00:70:43.5:0:0:41:109:21:chr2 g.90450015_90450030delCCGCCTCGGCTTTCTG (intergenic),chr2 g.90450015_90450030delCCGCCTCGGCTTTCTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90450113 rs143857260 G A 10 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.233 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:1:0:0:4:85:10.31:1.89:8.43:1.00:1.00:1.00:70:51.8:0:0:102:38:22:chr2 g.90450112G>A (intergenic),chr2 g.90450112G>A (intergenic):0.08,0.08:NOT_FOUND,NOT_FOUND 2 90450217 rs143138127 C T 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.037 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:7:4:0:0:4,3:102,87:0.00,8.07:0.00,1.28:0.00,6.79:0.00,0.69:0.00,0.89:0.00,0.95:60,60:84.0,98.3:0,0:0,0:23,61:75,48:13,19:-,chr2 g.90450216C>T (intergenic):-,0.19:-,NOT_FOUND 2 90450279 . G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:8:2:0:0:3,5:95,167:8.63,0.00:1.42,0.00:7.21,0.00:0.67,0.00:0.67,0.00:0.95,0.00:53,54:149.7,100.0:0,0:0,0:106,73:25,71:19,11:chr2 g.90450278G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90450289 . T G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;NP=1;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:G,T:7:1:0:0:3,4:106,113:9.96,0.00:1.80,0.00:8.16,0.00:0.69,0.00:0.62,0.00:0.69,0.00:53,40:149.7,111.8:0,0:0,0:116,77:15,64:19,6:chr2 g.90450288T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90450294 rs367996617 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=40;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:7:1:0:0:3,4:104,136:9.76,0.00:-0.12,0.00:9.88,0.00:0.69,0.00:0.62,0.00:0.69,0.00:40,53:123.3,131.5:0,0:0,0:88,99:56,10:13,22:chr2 g.90450293G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90450295 . G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:7:1:0:0:3,4:96,142:8.95,0.00:1.65,0.00:7.30,0.00:0.69,0.00:0.62,0.00:0.69,0.00:53,40:149.7,111.8:0,0:0,0:122,83:9,58:19,6:chr2 g.90450294G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90450361 . T C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:0:0:0:2,2:72,65:6.95,0.00:0.00,0.00:6.95,0.00:0.51,0.00:0.00,0.00:0.51,0.00:45,44:172.0,113.0:0,0:0,0:45,84:50,54:15,59:chr2 g.90450360T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90450681 rs370014526 G A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=22;PC=0.278 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,C,G:10:7:0:0:5,1,4:116,10,115:11.25,0.37,0.00:3.03,-0.16,0.00:8.22,0.53,0.00:0.95,0.00,0.00:0.99,0.00,0.00:0.98,0.00,0.00:53,14,60:90.0,158.0,46.0:0,0,0:0,0,0:58,34,38:53,116,110:6,0,19:chr2 g.90450680G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90450740 rs373840596 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=15;PC=0.137 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:C,T:12:6:0:0:7,5:194,150:19.08,0.00:2.60,0.00:16.48,0.00:0.99,0.00:0.99,0.00:1.00,0.00:53,60:70.7,38.4:0,0:0,0:93,81:41,70:24,33:chr2 g.90450739T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90450788 rs369478492 C G 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=118;PC=0.494 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,G:9:3:0:1:4,5:140,125:0.00,12.15:0.00,5.16:0.00,7.00:0.00,0.96:0.00,0.92:0.00,1.00:57,60:59.8,56.6:0,0:0,0:120,89:31,61:14,40:-,chr2 g.90450787C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90463747 . C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;NP=89;PC=0.169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T:4:4:0:0:1,3:10,102:0.00,10.70:0.00,8.82:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:57,59:33.0,44.3:0,0:0,0:67,52:84,97:0,0:-,chr2 g.90463746C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90464423 . G A 16 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;NP=265;PC=0.098 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:9:7:0:0:5,4:165,133:16.20,0.00:17.08,0.00:-0.88,0.00:0.96,0.00:0.99,0.00:0.92,0.00:49,60:125.0,53.2:0,0:0,0:51,52:100,98:11,22:chr2 g.90464422G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90464434 . G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;NP=18;PC=0.061 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:12:10:0:0:3,9:101,296:8.60,0.00:3.96,0.00:4.64,0.00:0.59,0.00:0.91,0.00:0.61,0.00:60,49:59.3,116.2:0,0:0,0:87,42:64,108:32,22:chr2 g.90464433G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90464486 . G C 51 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;NP=480 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:13:0:0:14:439:50.57:44.80:5.77:1.00:1.00:1.00:60:107.6:0:0:87:63:29:chr2 g.90464485G>C (intergenic),chr2 g.90464485G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90464515 . T C 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;NP=12;PC=0.053 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,C,T:12:11:0:0:1,8,3:10,284,99:0.39,29.38,0.00:0.42,29.85,0.00:-0.04,-0.48,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.78,0.00:41,49,49:119.0,127.6,48.7:0,0,0:0,0,0:71,100,120:78,50,30:0,23,3:chr2 g.90464514T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90464537 . A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;NP=45;PC=0.119 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:10:9:0:0:3,7:97,227:0.00,23.39:0.00,23.91:0.00,-0.52:0.00,1.00:0.00,1.00:0.00,0.80:49,60:48.7,135.0:0,0:0,0:142,107:8,43:3,14:-,chr2 g.90464536A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90464565 . C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;NP=21;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:7:7:0:0:2,5:34,152:0.00,15.80:0.00,15.80:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,41:89.5,134.0:0,0:0,0:83,135:66,15:33,4:-,chr2 g.90464564C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90464641 . G A 84 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;NP=3148;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,G:33:29:0:0:25,8:799,227:83.87,0.00:74.11,0.00:9.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,40:78.2,4.4:0,0:0,0:20,11:131,139:14,8:chr2 g.90464640G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90464714 . C T 270 nt VT=SNV;PN=T;NN=A;SST=Single;DP=112;NP=3302;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:112:92:0:0:31,81:1000,2604:0.00,270.25:0.00,182.57:0.00,87.68:0.00,1.00:0.00,1.00:0.00,1.00:43,59:8.4,55.5:0,0:0,0:44,53:104,97:25,26:-,chr2 g.90464713C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90464785 rs374540814 C T 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=NA;NP=3391;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:91:0:0:105,27:3450,895:0.00,73.35:0.00,21.98:0.00,51.37:0.00,1.00:0.00,1.00:0.00,1.00:60,52:30.7,69.4:0,0:0,0:92,99:46,46:28,27:-,chr2 g.90464784C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90464845 . C CA 11 rn VT=INS;SST=Single;DP=74;NP=416;PC=0.053;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,C,CA:73:28:8:0:1,65,7:10,2073,210:-0.26,0.00,11.40:-0.10,0.00,3.32:-0.16,0.00,8.08:0.00,0.00,0.89:0.00,0.00,0.85:0.00,0.00,0.99:27,60,43:10.0,30.6,76.3:0,0,1:0,0,0:29,109,121:122,41,29:0,23,9:-,chr2 g.90464845_90464846insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90464855 rs71218065 C A 140 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=798;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:68:21:0:2:44,24:1385,738:140.34,0.00:27.44,0.00:112.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,42:43.8,19.8:2,1:0,0:124,116:23,35:16,21:chr2 g.90464854C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90465064 . T A 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;NP=630;PC=0.912 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,T:9:2:0:0:7,2:229,65:24.17,0.00:3.77,0.00:20.40,0.00:1.00,0.00:0.96,0.00:1.00,0.00:56,55:71.9,17.0:0,0:0,0:112,71:39,79:13,15:chr2 g.90465063T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90467110 . A G 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;NP=54;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:176:20.42:20.42:0.00:1.00:1.00:0.00:39:115.5:0:0:54:68:20:chr2 g.90467109A>G (intergenic),chr2 g.90467109A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90467111 . T C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;NP=3;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,G,T:6:6:0:0:3,1,2:104,9,30:10.34,0.48,0.00:10.34,0.48,0.00:0.00,0.00,0.00:0.98,0.00,0.00:0.98,0.00,0.00:0.00,0.00,0.00:33,9,39:178.3,71.0,43.5:0,0,0:0,0,0:45,42,125:86,109,25:17,0,2:chr2 g.90467110T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90467118 . T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;NP=77;PC=0.121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:G,T:6:6:0:0:3,3:101,48:9.76,0.00:9.76,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:33,39:178.3,52.7:0,0:0,0:52,130:79,20:17,5:chr2 g.90467117T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90475671 . T G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:G,T:7:7:0:0:6,1:184,34:19.99,0.00:12.79,0.00:7.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,55:76.0,51.0:1,0:0,0:63,125:61,26:22,0:chr2 g.90475670T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90481666 . T A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;NP=260 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,T:4:2:0:0:3,1:86,9:9.11,0.00:2.91,0.00:6.20,0.00:0.85,0.00:0.95,0.00:0.95,0.00:39,40:82.0,168.0:0,0:0,0:47,69:103,54:12,0:chr2 g.90481665T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90481904 . T G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:134:15.31:5.62:9.69:1.00:1.00:1.00:39:193.2:1:0:21:126:6:chr2 g.90481903T>G (intergenic),chr2 g.90481903T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 90481940 rs376452443 C T 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=83 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,G,T:5:3:0:0:2,1,2:70,11,67:0.00,0.70,6.41:0.00,-0.19,1.30:0.00,0.89,5.12:0.00,0.00,0.46:0.00,0.00,0.80:0.00,0.00,0.80:40,38,52:143.5,198.0,130.0:0,0,0:0,0,0:31,28,48:120,123,80:21,0,14:-,chr2 g.90481939C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90481944 rs369127140 G C 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=91 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,G:6:4:0:0:3,3:96,89:9.23,0.00:2.72,0.00:6.50,0.00:0.98,0.00:0.51,0.00:0.51,0.00:52,40:170.0,161.7:0,0:0,0:57,32:77,119:9,18:chr2 g.90481943G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90482218 . G T 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;NP=62 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:G,T:7:3:0:0:3,4:80,87:0.00,8.49:0.00,2.84:0.00,5.65:0.00,0.90:0.00,0.93:0.00,0.99:60,60:32.3,96.5:0,0:0,0:105,90:33,50:30,32:-,chr2 g.90482217G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90485418 rs368631945 T C 37 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=279;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,T:12:8:0:0:11,1:331,30:36.80,0.00:14.63,0.00:22.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:98.0,33.0:0,0:0,0:83,35:63,116:13,0:chr2 g.90485417T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90485422 rs376281791 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=26;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:12:8:0:0:7,5:239,160:0.00,14.85:0.00,11.07:0.00,3.78:0.00,0.92:0.00,0.98:0.00,0.98:60,60:58.0,167.2:0,0:0,0:75,83:67,59:25,14:-,chr2 g.90485421C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 90485467 rs371954918 G A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=11;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:12:7:0:0:4,8:137,239:12.29,0.00:4.26,0.00:8.03,0.00:0.80,0.00:0.92,0.00:0.92,0.00:60,60:181.5,64.8:0,0:0,0:109,126:21,20:15,17:chr2 g.90485466G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 90485621 rs369002840 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4;PC=0.064 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:133:15.21:2.04:13.17:1.00:1.00:1.00:60:72.0:0:0:98:52:10:chr2 g.90485620A>G (intergenic),chr2 g.90485620A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91599361 rs6594120 A C 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=311 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:198:22.66:17.00:5.67:1.00:1.00:1.00:53:130.8:0:0:35:97:23:chr2 g.91599360A>C (intergenic),chr2 g.91599360A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91599387 rs6421801 T C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=529 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:158:18.61:14.71:3.90:1.00:1.00:1.00:53:130.8:0:0:61:71:23:chr2 g.91599386T>C (intergenic),chr2 g.91599386T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91599404 rs6594121 C G 10 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=392 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:6:5:0:0:2,4:70,96:0.00,9.81:0.00,8.34:0.00,1.47:0.00,0.93:0.00,0.99:0.00,0.91:9,53:167.0,110.8:0,0:0,0:96,78:46,54:29,18:-,chr2 g.91599403C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91634530 rs144147113 C T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=149;PC=0.228 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:6:6:0:0:3,3:102,90:0.00,8.62:0.00,8.92:0.00,-0.30:0.00,0.98:0.00,0.98:0.00,0.79:42,27:6.0,168.7:0,0:0,0:93,96:58,28:25,37:-,chr2 g.91634529C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91634662 rs2599251 A G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.611 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:113:13.20:9.53:3.68:1.00:1.00:1.00:44:146.5:0:0:74:76:24:chr2 g.91634661A>G (intergenic),chr2 g.91634661A>G (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 2 91634720 rs2599249 G C 20 lc VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1589,C/0.8411;PC=0.536 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:4:0:0:6:175:20.35:14.21:6.14:1.00:1.00:1.00:60:139.3:0:0:64:81:41:chr2 g.91634719G>C (intergenic),chr2 g.91634719G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91634809 rs75940525 C CT 13 lc VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;PC=0.949;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,CT:9:5:5:1:4,5:136,134:0.00,13.09:0.00,2.09:0.00,11.01:0.00,0.96:0.00,0.98:0.00,0.98:60,60:221.2,36.2:0,0:0,0:40,65:80,85:4,51:-,chr2 g.91634809_91634810insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91634815 rs76340719 T C 12 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:10:5:0:1:4,6:132,181:12.19,0.00:11.61,0.00:0.58,0.00:0.84,0.00:0.46,0.00:0.94,0.00:60,60:221.2,42.2:0,0:0,0:46,70:74,80:4,54:chr2 g.91634814T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91634818 . A G 9 lc VT=SNV;PN=C;NN=G;SST=Single;DP=10;PC=0.041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G,T:10:5:0:1:6,3,1:176,96,11:0.00,8.54,0.37:0.00,7.73,0.60:0.00,0.81,-0.23:0.00,0.95,0.00:0.00,0.82,0.00:0.00,0.86,0.00:60,21,60:42.2,201.7,280.0:0,0,0:0,0,0:73,51,47:77,71,88:54,5,0:-,chr2 g.91634817A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91634827 rs76590395 C G 18 lc VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,G:12:6:0:0:6,6:197,183:0.00,17.55:0.00,14.39:0.00,3.16:0.00,0.98:0.00,0.98:0.00,0.99:60,60:42.2,232.3:0,1:0,0:82,58:68,62:54,8:-,chr2 g.91634826C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91634849 . C A 19 lc VT=SNV;PN=C;NN=G;SST=Single;DP=12;NP=2;PC=0.504 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,C:12:7:0:0:7,5:191,162:18.87,0.00:13.26,0.00:5.61,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:233.0,43.0:1,0:0,0:78,46:40,87:9,31:chr2 g.91634848C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91634888 rs78651836 A G 22 lc VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2;PC=0.972 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,G:13:6:0:0:6,7:137,222:0.00,21.64:0.00,7.99:0.00,13.65:0.00,0.99:0.00,0.99:0.00,1.00:60,43:50.7,223.0:0,0:0,0:80,62:62,89:39,33:-,chr2 g.91634887A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91634908 rs2599248 C T 8 lc VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=713;PC=0.954 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:12:6:0:0:8,4:231,99:0.00,8.48:0.00,3.76:0.00,4.72:0.00,0.80:0.00,0.42:0.00,0.94:60,59:225.0,73.8:0,0:0,0:106,84:33,66:33,16:-,chr2 g.91634907C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91634926 . C A 14 lc VT=SNV;PN=T;NN=G;SST=Single;DP=12;NP=25;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:A,C:12:3:0:0:5,7:153,176:14.18,0.00:-0.70,0.00:14.88,0.00:0.92,0.00:0.82,0.00:0.98,0.00:43,59:236.0,89.7:0,0:0,0:88,66:63,84:12,47:chr2 g.91634925C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91634939 . G C 13 lc VT=SNV;PN=C;NN=C;SST=Single;DP=13;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:C,G:13:3:0:0:5,8:143,213:12.91,0.00:-0.63,0.00:13.54,0.00:0.91,0.00:0.79,0.00:0.98,0.00:43,51:236.0,91.9:0,0:0,0:101,37:50,93:12,32:chr2 g.91634938G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91634953 rs2647823 T C 41 lc VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1617,A/0.8383;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,C:13:3:0:0:1,12:11,357:0.56,40.96:0.00,11.43:0.56,29.54:0.00,1.00:0.00,1.00:0.00,1.00:50,51:23.0,157.7:0,0:0,0:17,93:134,45:0,32:chr2 g.91634952T>C (intergenic),chr2 g.91634952T>C (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 2 91634957 rs74736283 G A 21 lc VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:16:5:0:0:7,8,1:222,225,11:21.04,0.00,0.27:2.90,0.00,-0.07:18.13,0.00,0.34:0.98,0.00,0.00:0.94,0.00,0.00:1.00,0.00,0.00:43,60,27:202.3,76.6,115.0:0,0,0:0,0,0:98,26,43:39,89,99:30,22,0:chr2 g.91634956G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91634978 rs57901336 C A 12 lc VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,C:16:6:0:0:4,12:135,324:11.51,0.00:-0.56,0.00:12.07,0.00:0.75,0.00:0.80,0.00:0.95,0.00:40,60:237.5,82.9:0,0:0,0:129,48:14,74:15,22:chr2 g.91634977C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91635087 rs13383158 A G 15 lc VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:59.5:0:0:67:83:5:chr2 g.91635086A>G (intergenic),chr2 g.91635086A>G (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 2 91635121 . C . . NT END=91635346;NT GT ./. 2 91635413 rs2647830 A C 14 lc VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:118:13.68:13.68:0.00:1.00:1.00:0.00:60:210.0:0:0:54:67:20:chr2 g.91635412A>C (intergenic),chr2 g.91635412A>C (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 2 91635422 rs2647831 A G 14 lc VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:210.0:0:0:63:58:20:chr2 g.91635421A>G (intergenic),chr2 g.91635421A>G (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 2 91635477 . C . . NT END=91635607;NT GT ./. 2 91635492 rs28549898 C CT 8 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=530;NP=6;PC=0.926;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:C,CT:4:1:3:0:1,3:13,76:0.00,8.07:0.00,1.83:0.00,6.24:0.00,0.85:0.00,0.83:0.00,0.85:60,70:19.0,45.0:0,0:0,0:4,64:143,83:0,4:-,chr2 g.91635492_91635493insT (intergenic):-,0.97:-,NOT_FOUND 2 91635976 rs138445065 A G 9 end;mq,lc VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;PC=0.823 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G:4:3:0:0:1,3:36,86:0.00,9.05:0.00,9.65:0.00,-0.60:0.00,0.85:0.00,0.99:0.00,0.83:40,9:68.0,264.3:0,0:0,0:43,0:108,151:0,0:-,chr2 g.91635975A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91635988 rs200731211 G A 17 lc VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:10:8:0:0:6,4:173,135:17.23,0.00:11.52,0.00:5.71,0.00:0.99,0.00:1.00,0.00:0.78,0.00:43,43:283.0,160.5:0,0:0,0:13,9:135,142:6,6:chr2 g.91635987G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636003 rs113286138 T G 56 lc VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.304 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:G,T:18:15:0:0:16,2:511,55:56.01,0.00:42.61,0.00:13.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,40:232.7,60.0:0,0:0,0:18,40:131,111:9,30:chr2 g.91636002T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636011 . C T 10 lc VT=SNV;PN=G;NN=A;SST=Single;DP=17;PC=0.785 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,C,T:17:14:0:0:1,12,4:10,371,123:0.09,0.00,10.30:0.22,0.00,9.36:-0.13,0.00,0.95:0.00,0.00,0.74:0.00,0.00,0.95:0.00,0.00,0.85:27,42,25:267.0,192.5,201.5:0,0,0:0,0,0:28,29,14:120,120,136:0,9,3:-,chr2 g.91636010C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91636012 . A G 72 lc VT=SNV;PN=C;NN=C;SST=Single;DP=22;PC=0.747 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,G:22:19:0:0:2,20:62,651:0.00,71.73:0.00,51.14:0.00,20.58:0.00,1.00:0.00,1.00:0.00,1.00:40,43:60.0,239.8:0,0:0,0:49,25:102,122:30,9:-,chr2 g.91636011A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91636019 . C T 45 lc VT=SNV;PN=G;NN=C;SST=Single;DP=21;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:C,G,T:21:18:0:0:6,1,14:194,9,435:0.00,0.16,44.83:0.00,0.22,28.98:0.00,-0.05,15.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,27,43:154.3,267.0,235.9:0,0,0:0,0,0:25,36,34:125,112,115:3,0,8:-,chr2 g.91636018C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91636031 rs587725567 G A 27 lc VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:19:0:0:10,12:288,367:26.95,0.00:15.28,0.00:11.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:264.3,168.5:0,0:0,0:51,37:98,113:8,6:chr2 g.91636030G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636033 rs75008621 G A 11 lc VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:22:19:0:0:4,18:136,578:10.98,0.00:10.03,0.00:0.96,0.00:0.70,0.00:0.95,0.00:0.86,0.00:25,43:201.5,214.1:0,0:0,0:36,48:114,103:3,7:chr2 g.91636032G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636034 . C A 19 lc VT=SNV;PN=G;NN=G;SST=Single;DP=19;NP=1;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:16:0:0:6,13:210,409:18.72,0.00:14.09,0.00:4.62,0.00:0.94,0.00:0.99,0.00:0.95,0.00:43,42:186.2,205.9:0,0:0,0:36,49:112,97:8,9:chr2 g.91636033C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636035 . G A 10 lc VT=SNV;PN=C;NN=C;SST=Single;DP=21;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C,G:21:18:0:0:4,1,16:129,12,501:10.48,0.15,0.00:9.89,0.29,0.00:0.58,-0.14,0.00:0.70,0.00,0.00:0.95,0.00,0.00:0.85,0.00,0.00:25,7,43:201.5,130.0,216.8:0,0,0:0,0,0:38,7,52:112,106,97:3,0,9:chr2 g.91636034G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636040 . A G 27 lc VT=SNV;PN=C;NN=G;SST=Single;DP=22;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:18:0:0:12,10:414,286:0.00,26.78:0.00,14.64:0.00,12.14:0.00,1.00:0.00,1.00:0.00,1.00:43,43:168.5,265.5:0,0:0,0:46,62:104,89:6,6:-,chr2 g.91636039A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91636046 rs78692164 A G 81 lc VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1506;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:C,G:22:18:0:0:1,21:13,716:0.55,81.19:0.55,51.14:0.00,30.05:0.00,1.00:0.00,1.00:0.00,1.00:7,43:130.0,212.4:0,0:0,0:18,58:95,90:0,11:chr2 g.91636045A>G (intergenic),chr2 g.91636045A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91636069 rs368204540 G C 23 lc VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=1167;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:31:25:0:0:1,9,21:36,269,668:2.29,23.23,0.00:1.13,8.13,0.00:1.16,15.10,0.00:0.00,0.99,0.00:0.00,1.00,0.00:0.00,1.00,0.00:46,43,45:105.0,256.9,141.5:0,0,0:0,0,0:15,90,23:65,58,92:0,6,12:chr2 g.91636068G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636138 . G A 11 sb,lc VT=SNV;PN=G;NN=A;SST=Single;DP=26;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:26:17:0:0:5,21:139,713:10.76,0.00:-0.88,0.00:11.64,0.00:0.82,0.00:0.94,0.00:0.98,0.00:39,45:235.0,151.8:0,0:0,0:100,87:49,59:18,7:chr2 g.91636137G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636144 . C A 18 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=23;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,C,T:23:12:0:0:7,14,2:203,460,68:17.81,0.00,5.08:-0.87,0.00,3.96:18.68,0.00,1.12:0.97,0.00,0.00:0.97,0.00,0.00:1.00,0.00,0.00:39,44,21:227.0,141.3,284.0:0,0,0:0,0,0:95,96,95:56,33,55:11,9,2:chr2 g.91636143C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636149 rs150843896 C CC 42 lc VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:CC:23:10:23:0:23:324:41.74:8.03:33.71:1.00:1.00:1.00:39:181.0:0:0:100:51:9:chr2 g.91636149_91636150insC (intergenic),chr2 g.91636149_91636150insC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91636152 . G C 15 idl,lc VT=SNV;PN=G;NN=A;SST=Single;DP=23;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,G:23:7:0:0:5,18:178,600:14.96,0.00:10.03,0.00:4.93,0.00:0.84,0.00:0.79,0.00:0.98,0.00:21,39:211.4,180.9:5,18:0,0:105,100:46,48:2,9:chr2 g.91636151G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636159 . G C 36 lc VT=SNV;PN=A;NN=G;SST=Single;DP=21;PC=0.840 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:7:0:0:12,9:367,284:36.21,0.00:2.40,0.00:33.82,0.00:1.00,0.00:0.90,0.00:1.00,0.00:39,21:186.2,169.3:0,0:0,0:107,103:41,47:7,9:chr2 g.91636158G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636166 rs76226000 A G 58 lc VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.388 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:19:6:0:0:2,17:67,527:0.00,58.00:0.00,7.45:0.00,50.54:0.00,1.00:0.00,1.00:0.00,1.00:21,39:265.0,176.4:0,0:0,0:120,109:30,41:0,9:-,chr2 g.91636165A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91636177 . C T 31 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=19;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:6:0:0:9,10:318,318:0.00,30.86:0.00,0.61:0.00,30.25:0.00,1.00:0.00,0.98:0.00,1.00:21,39:169.3,200.2:0,0:0,0:121,121:29,26:9,8:-,chr2 g.91636176C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91636192 rs74537236 A G 56 lc VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,G:17:5:0:0:1,16:34,498:0.00,55.78:0.00,11.77:0.00,44.00:0.00,1.00:0.00,1.00:0.00,1.00:27,39:137.0,191.9:0,0:0,0:137,135:12,14:0,7:chr2 g.91636191A>G (intergenic),chr2 g.91636191A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91636195 . C A 11 lc VT=SNV;PN=A;NN=T;SST=Single;DP=17;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,C:17:5:0:0:4,13:132,420:11.08,0.00:1.23,0.00:9.86,0.00:0.74,0.00:0.73,0.00:0.96,0.00:21,39:139.0,211.1:0,0:0,0:138,139:13,7:0,8:chr2 g.91636194C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636202 . C T 17 end,lc VT=SNV;PN=A;NN=C;SST=Single;DP=10;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:10:2:0:0:4,6:108,172:0.00,17.14:0.00,1.34:0.00,15.81:0.00,0.99:0.00,0.87:0.00,0.99:21,33:139.0,190.2:0,0:0,0:145,145:6,5:0,2:-,chr2 g.91636201C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91636207 rs372726038 A C 23 end,lc VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C,D:8:0:0:1:7,1:204,9:23.32,0.54:0.00,0.00:23.32,0.54:1.00,0.00:0.00,0.00:1.00,0.00:21,9:177.9,164.0:0,1:0,0:150,133:1,16:0,0:chr2 g.91636206A>C (intergenic),chr2 g.91636206A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91636210 . T G 10 mq,lc VT=SNV;PN=C;NN=G;SST=Single;DP=4;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:4:0:0:0:3,1:95,33:9.95,0.00:0.00,0.00:9.95,0.00:0.85,0.00:0.00,0.00:0.85,0.00:9,9:220.7,132.0:2,0:0,0:142,141:9,10:4,0:chr2 g.91636209T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91636393 . G . . NT END=95537324;NT GT ./. 2 91669424 rs9326723 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:139:15.81:9.84:5.97:1.00:1.00:1.00:54:52.5:1:0:97:37:18:chr2 g.91669423T>C (intergenic),chr2 g.91669423T>C (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 2 91669747 rs370538719 G T 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,T:4:3:0:0:1,3:36,90:0.00,9.45:0.00,7.10:0.00,2.35:0.00,0.85:0.00,0.99:0.00,0.95:60,60:206.0,176.0:1,0:0,0:8,38:141,80:0,5:-,chr2 g.91669746G>T (intergenic):-,0.19:-,NOT_FOUND 2 91669755 rs72624684 A G,T 11 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.297 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:G,T:4:3:0:0:1,3:12,100:1.08,11.06:0.00,9.18:1.08,1.88:0.00,0.85:0.00,0.99:0.00,0.95:60,60:157.0,192.3:0,0:0,0:19,46:126,72:0,5:chr2 g.91669754A>G (intergenic),chr2 g.91669754A>T (intergenic):NOT_FOUND,0.91:NOT_FOUND,NOT_FOUND 2 91669781 rs56316441 C G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.044 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,G:5:4:0:0:1,4:9,128:0.00,13.70:0.00,10.34:0.00,3.36:0.00,0.96:0.00,1.00:0.00,0.99:60,60:157.0,199.5:0,0:0,0:45,58:100,73:0,15:-,chr2 g.91669780C>G (intergenic):-,0.78:-,NOT_FOUND 2 91669787 rs56289129 C G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.044 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:101:11.99:6.55:5.44:1.00:1.00:1.00:60:183.5:0:0:64:67:15:chr2 g.91669786C>G (intergenic),chr2 g.91669786C>G (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 2 91669800 rs74169595 C G 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:4:0:0:5:111:13.42:6.30:7.12:1.00:1.00:1.00:60:179.8:0:0:64:81:3:chr2 g.91669799C>G (intergenic),chr2 g.91669799C>G (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 2 91669803 . C G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;NP=111 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:122:14.54:7.07:7.48:1.00:1.00:1.00:60:179.8:0:0:67:78:3:chr2 g.91669802C>G (intergenic),chr2 g.91669802C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91669804 . G C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;NP=130 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:132:15.54:8.07:7.47:1.00:1.00:1.00:60:183.2:0:0:68:77:3:chr2 g.91669803G>C (intergenic),chr2 g.91669803G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91669841 rs140343360 G GC 22 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=425;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:GC:7:5:7:0:7:189:22.22:10.28:11.94:1.00:1.00:1.00:60:148.3:0:0:102:47:35:chr2 g.91669841_91669842insC (intergenic),chr2 g.91669841_91669842insC (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 91669890 rs74169596 T C 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=180;PC=0.483 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:155:17.88:0.00:17.88:1.00:0.00:1.00:60:102.0:0:0:88:42:12:chr2 g.91669889T>C (intergenic),chr2 g.91669889T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91670134 rs11690904 C T 8 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:2:0:0:1,3:32,78:0.00,8.23:0.00,1.63:0.00,6.61:0.00,0.85:0.00,0.95:0.00,0.85:60,60:136.0,79.7:0,0:0,0:41,71:102,36:0,19:-,chr2 g.91670133C>T (intergenic):-,0.72:-,NOT_FOUND 2 91670342 rs59279294 T A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=482;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,C,T:11:7:0:0:5,1,5:154,10,140:14.76,0.32,0.00:11.26,-0.04,0.00:3.50,0.36,0.00:0.93,0.00,0.00:0.98,0.00,0.00:0.99,0.00,0.00:60,60,60:75.6,121.0,30.6:0,0,0:0,0,0:31,19,112:120,129,25:22,0,15:chr2 g.91670341T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91670370 rs7419663 A C 49 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=24;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:12:0:0:14:420:48.62:28.10:20.53:1.00:1.00:1.00:60:72.4:0:0:27:101:20:chr2 g.91670369A>C (intergenic),chr2 g.91670369A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91670450 rs56843001 C CCCG 15 idl,rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,G,CCCG:16:14:8:0:9,1,6:283,36,230:0.00,2.60,15.11:0.00,1.31,10.14:0.00,1.29,4.97:0.00,0.00,0.94:0.00,0.00,0.99:0.00,0.00,0.89:60,60,60:56.3,36.0,66.8:0,0,2:0,0,0:104,2,72:21,82,62:27,0,16:-,chr2 g.91670450_91670451insCCG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91670592 . C G 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,G:10:6:0:3:7,3:227,101:0.00,8.88:0.00,4.54:0.00,4.33:0.00,0.95:0.00,0.86:0.00,0.92:60,60:14.7,156.0:0,0:0,0:44,11:95,132:15,0:-,chr2 g.91670591C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91670593 . A C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,C:10:6:0:2:7,3:177,103:0.00,9.09:0.00,4.79:0.00,4.29:0.00,0.95:0.00,0.86:0.00,0.92:60,60:24.7,147.0:0,0:0,0:45,12:94,131:15,0:-,chr2 g.91670592A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91670599 . T G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;NP=11;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:G,T:9:5:0:2:4,5:136,166:12.82,0.00:6.42,0.00:6.41,0.00:0.85,0.00:0.94,0.00:0.97,0.00:60,60:134.5,20.6:0,0:0,0:20,51:125,93:2,12:chr2 g.91670598T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91670605 . GCGGCTTTTTGCCCGCTC G 8 nt VT=DEL;SST=Single;DP=11;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:GCGGCTTTTTGCCCGCTC,G:11:7:0:3:8,3:274,97:0.00,8.33:0.00,2.73:0.00,5.60:0.00,0.60:0.00,0.86:0.00,0.91:60,60:88.4,13.3:2,0:0,0:44,39:87,94:17,13:-,chr2 g.91670606_91670622delCGGCTTTTTGCCCGCTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91670665 rs72545140 CT C 10 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=18;PC=0.158;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:CT,C:10:5:0:4:6,4:188,115:0.00,10.49:0.00,3.89:0.00,6.60:0.00,0.84:0.00,0.46:0.00,0.98:60,60:19.0,100.5:0,0:0,0:103,73:32,74:20,13:-,chr2 g.91670666delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91670695 rs138314384 C CCTGT 10 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.007;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,CCTGT:8:4:4:0:4,4:135,110:0.00,10.49:0.00,2.77:0.00,7.72:0.00,0.99:0.00,0.51:0.00,0.99:60,60:10.0,100.5:0,0:0,0:105,102:29,45:16,13:-,chr2 g.91670695_91670696insCTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91670704 . C T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:8:2:0:0:3,5:99,150:0.00,15.07:0.00,1.72:0.00,13.35:0.00,0.97:0.00,0.88:0.00,0.97:60,60:4.0,119.6:0,0:0,0:121,126:29,25:18,4:-,chr2 g.91670703C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91670852 rs527463107 C A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=147;PC=0.156 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,C:9:1:0:0:8,1:200,34:22.41,0.00:3.83,0.00:18.58,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:93.8,0.0:0,1:0,0:88,26:62,123:47,0:chr2 g.91670851C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91670888 rs111377318 T C 38 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=343 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:2:0:0:10:330:37.77:5.52:32.25:1.00:1.00:1.00:60:71.0:1:0:66:85:44:chr2 g.91670887T>C (intergenic),chr2 g.91670887T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91671018 . G GC 7 rn VT=INS;SST=Single;DP=9;NP=7;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:G,GC:9:4:3:0:6,3:180,83:0.00,7.25:0.00,1.39:0.00,5.87:0.00,0.64:0.00,0.81:0.00,0.64:60,60:60.7,93.7:1,0:0,0:74,64:24,63:42,22:-,chr2 g.91671018_91671019insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91671272 rs554935434 C T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:2:0:0:5:149:17.27:3.93:13.34:1.00:1.00:1.00:60:89.6:0:0:65:18:7:chr2 g.91671271C>T (intergenic),chr2 g.91671271C>T (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 2 91671611 rs76809657 T G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.189 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:G,T:4:0:0:0:3,1:86,35:9.05,0.00:0.00,0.00:9.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:59,3:57.7,36.0:0,0:0,0:111,13:40,137:26,0:chr2 g.91671610T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91685220 rs6718691 T C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.822 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,T:10:10:0:0:7,3:225,96:23.18,0.00:23.18,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:50,51:151.1,34.0:0,0:0,0:30,34:121,117:5,2:chr2 g.91685219T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91685242 rs7575763 A G 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.845 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,G:16:16:0:0:4,12:131,380:0.00,39.78:0.00,39.78:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:51,50:25.5,142.6:0,0:0,0:51,34:99,116:6,20:-,chr2 g.91685241A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91685258 rs1839721 G A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.867 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:19:19:0:0:4,15:135,444:11.17,0.00:11.17,0.00:0.00,0.00:0.72,0.00:0.72,0.00:0.00,0.00:51,50:42.5,122.1:0,0:0,0:67,37:83,113:6,26:chr2 g.91685257G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91685270 rs113124925 C T 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.738 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:7,14:248,396:0.00,40.41:0.00,40.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:51,50:27.6,137.2:0,0:0,0:47,49:104,100:34,28:-,chr2 g.91685269C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91685289 rs56009229 A G 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=0.800 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:31:31:0:0:14,16,1:471,478,8:0.00,46.42,-0.03:0.00,46.42,-0.03:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:51,50,40:18.6,126.0,195.0:1,0,0:0,0,0:22,59,107:128,91,36:14,37,0:-,chr2 g.91685288A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91685346 rs76338836 G A 51 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2993;PC=0.081 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:31:0:0:16,16:532,496:51.18,0.00:46.32,0.00:4.86,0.00:1.00,0.00:1.00,0.00:0.96,0.00:42,42:103.3,14.2:0,0:0,0:75,64:74,86:25,20:chr2 g.91685345G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91685357 rs188982685 T A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=286;PC=0.320 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,T:35:33:0:0:3,32:104,1060:7.39,0.00:7.60,0.00:-0.21,0.00:0.40,0.00:0.86,0.00:0.50,0.00:27,42:45.7,57.1:0,0:0,0:48,75:103,75:43,17:chr2 g.91685356T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91685419 rs62146185 C T 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=72;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:33:0:0:29,14:964,453:0.00,40.20:0.00,22.02:0.00,18.18:0.00,1.00:0.00,1.00:0.00,1.00:43,42:9.3,79.8:0,0:0,0:66,123:84,28:25,23:-,chr2 g.91685418C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91685498 rs7575985 A G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:29:16:0:0:25,4:734,135:0.00,10.36:0.00,-0.68:0.00,11.04:0.00,0.65:0.00,0.84:0.00,0.93:45,27:16.0,75.8:0,0:0,0:90,115:48,35:34,7:-,chr2 g.91685497A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91685560 rs11240956 C A 10 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5042,T/0.4958;NP=229 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C:19:3:0:1:4,15:126,422:10.27,0.00:-0.20,0.00:10.47,0.00:0.72,0.00:0.55,0.00:0.96,0.00:43,43:67.2,13.8:3,0:0,0:52,116:99,35:31,29:chr2 g.91685559C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91685706 rs80354171 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2057,A/0.7943;DB;DBA=NA;PAF=NA;NP=44;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:125:14.41:3.88:10.53:1.00:1.00:1.00:42:77.5:0:0:101:49:31:chr2 g.91685705T>C (intergenic),chr2 g.91685705T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91687792 rs56354108 CAAAA C 8 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.086;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:CAAAA,C:6:7:0:4:3,3:105,109:0.00,7.59:0.00,7.59:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,52:96.0,140.0:0,1:0,0:64,57:87,68:44,7:-,chr2 g.91687793_91687796delAAAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91687825 rs2443340 T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=7;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:G,T:11:11:0:0:7,4:126,85:12.74,0.00:12.95,0.00:-0.21,0.00:1.00,0.00:1.00,0.00:0.76,0.00:60,54:131.6,14.2:0,0:0,0:81,20:54,97:16,9:chr2 g.91687824T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91687832 rs2864688 T G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;PC=0.081 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:G,T:10:10:0:0:6,4:126,118:12.48,0.00:12.68,0.00:-0.20,0.00:0.99,0.00:0.99,0.00:0.73,0.00:60,54:110.7,67.5:0,0:0,0:93,27:41,99:9,9:chr2 g.91687831T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91687836 rs145176039 T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.138 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:G,T:9:9:0:1:5,4:72,82:6.83,0.00:6.83,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,52:160.2,33.2:0,0:0,0:89,62:59,64:19,40:chr2 g.91687835T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91687844 . T G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;PC=0.220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G,T:10:10:0:0:1,6,3:13,83,73:0.68,8.47,0.00:0.75,9.06,0.00:-0.07,-0.59,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.94,0.00:40,60,54:270.0,110.7,18.7:0,0,0:0,0,0:56,105,30:86,29,88:0,9,14:chr2 g.91687843T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91694455 rs2647801 A G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.124 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:4:4:0:0:2,2:65,68:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,56:0.0,75.5:0,0:0,0:28,31:122,119:11,18:-,chr2 g.91694454A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91694493 rs2647802 C T 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9922,G/0.007788;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:8:8:0:0:3,5:104,160:0.00,16.09:0.00,16.09:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,56:0.0,54.0:0,0:0,0:55,27:92,124:23,8:-,chr2 g.91694492C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91706948 . T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,T:4:2:0:0:3,1:93,9:9.81,0.00:2.21,0.00:7.60,0.00:0.85,0.00:0.95,0.00:0.95,0.00:24,51:241.7,106.0:0,0:0,0:54,32:57,119:0,0:chr2 g.91706947T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91706950 . G C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:C,G:4:2:0:0:3,1:82,10:8.70,0.00:2.40,0.00:6.30,0.00:0.85,0.00:0.95,0.00:0.95,0.00:24,51:241.7,106.0:0,0:0,0:56,34:55,117:0,0:chr2 g.91706949G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91706964 rs111207400 T G 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:2:0:0:5:136:15.93:5.10:10.83:1.00:1.00:1.00:51:212.2:0:0:70:41:22:chr2 g.91706963T>G (intergenic),chr2 g.91706963T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91707017 rs62653877 C T 10 end;mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T:4:1:0:0:1,3:10,99:0.00,10.40:0.00,-0.56:0.00,10.96:0.00,0.85:0.00,0.83:0.00,0.99:51,4:106.0,225.7:0,0:0,0:101,123:50,-12:0,0:-,chr2 g.91707016C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91707021 rs62653878 T C 11 end;mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:C,T:4:1:0:0:3,1:103,10:10.80,0.00:-0.56,0.00:11.36,0.00:0.85,0.00:0.83,0.00:0.99,0.00:4,51:225.7,106.0:0,0:0,0:127,105:-16,46:0,0:chr2 g.91707020T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91707027 rs6730979 A G,T 11 mq;end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:21:G,T:4:1:0:0:1,3:27,97:2.58,10.76:1.29,0.00:1.29,10.76:0.00,0.85:0.00,0.83:0.00,0.85:60,4:84.0,225.7:0,0:0,0:2,133:149,-22:0,0:chr2 g.91707026A>G (intergenic),chr2 g.91707026A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91714722 rs3975908 C G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=100;PC=0.419 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,G:8:8:0:0:5,3:126,78:0.00,6.93:0.00,6.93:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:53,24:25.6,69.0:0,0:0,0:79,78:72,62:8,2:-,chr2 g.91714721C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91714941 rs2443415 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=194;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,T:11:7:0:0:6,5:149,151:0.00,14.26:0.00,7.85:0.00,6.41:0.00,0.93:0.00,0.98:0.00,0.91:40,24:50.8,78.2:0,0:0,0:57,50:92,100:39,10:-,chr2 g.91714940C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91714991 rs2261798 G T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=143;PC=0.646 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:12:8:0:0:6,6:203,189:0.00,18.15:0.00,11.80:0.00,6.35:0.00,0.98:0.00,0.99:0.00,0.51:40,24:60.7,73.8:0,0:0,0:68,95:81,55:27,20:-,chr2 g.91714990G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91715100 . G C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;NP=32;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,G:7:4:0:0:3,4:98,134:9.16,0.00:9.88,0.00:-0.73,0.00:0.69,0.00:0.89,0.00:0.83,0.00:24,24:45.3,76.8:0,0:0,0:139,85:12,65:0,32:chr2 g.91715099G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91715122 rs2439099 C A 12 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=32;PC=0.171 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,C:6:1:0:0:4,2:121,65:12.35,0.00:-0.48,0.00:12.83,0.00:0.93,0.00:0.78,0.00:0.99,0.00:18,24:57.0,93.5:0,0:0,0:50,34:100,116:45,0:chr2 g.91715121C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91715138 . C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;PC=0.167 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,T:11:2:0:0:8,3:234,82:0.00,6.83:0.00,-0.28:0.00,7.11:0.00,0.60:0.00,0.56:0.00,0.91:24,24:50.6,73.3:0,0:0,0:18,22:133,129:13,20:-,chr2 g.91715137C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91715199 . C T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;NP=21;PC=0.355 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,T:13:2:0:0:10,3:254,88:0.00,7.20:0.00,2.23:0.00,4.97:0.00,0.58:0.00,0.51:0.00,0.91:36,24:70.9,61.7:0,0:0,0:70,63:80,86:11,23:-,chr2 g.91715198C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91715288 rs72492109 A G 15 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.156 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:133:15.21:3.88:11.33:1.00:1.00:1.00:12:63.2:0:0:111:37:15:chr2 g.91715287A>G (intergenic),chr2 g.91715287A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91745608 rs143111439 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=68;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:176:19.98:6.02:13.97:1.00:1.00:1.00:44:52.4:0:0:114:9:12:chr2 g.91745607G>A (intergenic),chr2 g.91745607G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91750820 rs62146800 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=198;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:10:10:0:0:6,4:182,129:18.13,0.00:16.02,0.00:2.10,0.00:0.99,0.00:0.99,0.00:0.78,0.00:70,60:48.0,81.8:0,0:0,0:42,35:102,101:10,15:chr2 g.91750819G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91750892 rs372723686 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=133;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:9:9:0:0:6,3:195,100:0.00,8.94:0.00,5.86:0.00,3.09:0.00,0.64:0.00,0.64:0.00,0.86:70,60:51.8,33.3:0,0:0,0:101,93:40,30:13,3:-,chr2 g.91750891C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91750899 rs62146802 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=182;PC=0.289 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,T:10:9:0:0:4,6:120,194:0.00,19.35:0.00,13.14:0.00,6.21:0.00,0.99:0.00,1.00:0.00,0.78:70,60:33.5,59.8:0,0:0,0:107,96:24,29:9,25:-,chr2 g.91750898C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91750924 . GAGGCGCGCAGCGGCGGCGAGGCGCGCAGCGGCGGCGC G 14 nt VT=DEL;SST=Single;DP=8;PC=0.549;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:GAGGCGCGCAGCGGCGGCGAGGCGCGCAGCGGCGGCGC,G:8:6:0:5:3,5:83,141:0.00,14.18:0.00,5.43:0.00,8.75:0.00,0.97:0.00,1.00:0.00,0.99:60,70:80.7,41.2:0,0:0,0:122,63:1,88:27,43:-,chr2 g.91750925_91750961delAGGCGCGCAGCGGCGGCGAGGCGCGCAGCGGCGGCGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91751047 rs62146807 G C 11 end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=152;PC=0.534 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:4:0:0:0:3,1:102,35:10.65,0.00:0.00,0.00:10.65,0.00:0.85,0.00:0.00,0.00:0.85,0.00:70,42:45.7,10.0:0,0:0,0:106,67:6,84:3,0:chr2 g.91751046G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91764933 rs2580526 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.485,G/0.515;NP=66 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:5:3:0:0:3,2:87,70:8.67,0.00:5.91,0.00:2.76,0.00:0.78,0.00:0.94,0.00:0.94,0.00:60,60:50.0,79.0:0,0:0,0:103,76:48,36:12,23:chr2 g.91764932G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91764935 rs7370787 A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=187;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:3:0:0:3,2:90,70:0.00,6.49:0.00,1.40:0.00,5.10:0.00,0.46:0.00,0.80:0.00,0.80:60,60:50.0,79.0:0,0:0,0:105,78:46,34:12,23:-,chr2 g.91764934A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91766264 rs2580538 T G 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:G,T:13:13:0:0:6,7:186,200:17.55,0.00:17.55,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:34.8,23.3:0,0:0,0:15,46:134,103:10,36:chr2 g.91766263T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91766609 rs2433883 G A 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=224;DB;DBA=NA;PAF=NA;NP=2516;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:224:127:0:0:34,1,189:1051,13,6234:80.07,-0.24,0.00:18.60,-0.13,0.00:61.47,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:54,46,60:53.3,144.0,11.9:0,0,0:0,0,0:99,3,92:45,122,47:27,0,29:chr2 g.91766608G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91766685 rs2258279 G T 99 nt VT=SNV;PN=T;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.5018,T/0.4982 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:112:19:0:0:77,35:2611,1121:0.00,98.56:0.00,6.37:0.00,92.19:0.00,1.00:0.00,1.00:0.00,1.00:60,57:7.3,83.4:1,0:0,0:96,105:54,45:37,26:-,chr2 g.91766684G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91766686 rs2433882 A G 83 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.5018,G/0.4982;NP=3152 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:108:18:0:0:78,1,29:2475,11,959:0.00,-0.19,82.60:0.00,-0.04,1.82:0.00,-0.15,80.78:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,54,43:9.9,115.0,85.0:1,0,0:0,0,0:103,144,99:45,7,51:32,0,24:-,chr2 g.91766685A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91766729 rs72545146 C CAG 134 nt VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=146;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAG:71:1:48:0:23,48:732,1321:0.00,134.33:0.00,1.85:0.00,132.48:0.00,1.00:0.00,0.78:0.00,1.00:60,60:24.3,37.8:1,0:0,0:103,107:47,44:26,32:-,chr2 g.91766729_91766730insAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91766779 rs2433881 A T 76 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:36:1:0:0:12,24:381,750:0.00,76.42:0.00,-0.48:0.00,76.89:0.00,1.00:0.00,0.78:0.00,1.00:60,60:7.3,46.7:0,0:0,0:115,107:35,44:22,18:-,chr2 g.91766778A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91776974 rs4005062 A C 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:105:12.38:12.38:0.00:1.00:1.00:0.00:60:154.8:0:0:18:133:9:chr2 g.91776973A>C (intergenic),chr2 g.91776973A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91777035 rs11240833 G A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.040 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:5:5:0:0:3,2:102,66:10.17,0.00:10.17,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:145.3,80.0:0,0:0,0:80,45:71,97:21,32:chr2 g.91777034G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777066 rs4005063 A G 28 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:12:12:0:0:3,9:102,262:0.00,27.55:0.00,26.08:0.00,1.48:0.00,1.00:0.00,1.00:0.00,0.95:60,60:33.0,161.1:0,0:0,0:25,38:126,92:4,35:-,chr2 g.91777065A>G (intergenic):-,0.78:-,NOT_FOUND 2 91777076 rs4005064 A G 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:395:45.22:41.40:3.83:1.00:1.00:1.00:60:128.9:0:0:36:114:16:chr2 g.91777075A>G (intergenic),chr2 g.91777075A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91777077 rs71244755 G A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.698 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,G:13:13:0:0:6,7:184,228:17.35,0.00:15.67,0.00:1.69,0.00:0.97,0.00:0.97,0.00:0.76,0.00:60,60:156.2,100.1:0,0:0,0:43,32:96,119:28,18:chr2 g.91777076G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777145 rs4079397 C T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=334 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:15:15:0:0:12,3:407,100:0.00,8.17:0.00,6.73:0.00,1.44:0.00,0.55:0.00,0.55:0.00,0.60:60,52:101.9,126.7:0,0:0,0:94,73:52,78:24,9:-,chr2 g.91777144C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777147 rs4005056 C G 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,G:15:15:0:0:3,12:107,398:0.00,42.26:0.00,36.94:0.00,5.32:0.00,1.00:0.00,1.00:0.00,1.00:60,59:33.0,125.3:0,0:0,0:106,73:45,71:4,24:-,chr2 g.91777146C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777181 rs2248711 C G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:C,G:18:16:0:0:13,5:445,154:0.00,13.17:0.00,12.05:0.00,1.12:0.00,0.87:0.00,0.98:0.00,0.84:60,60:110.1,115.6:0,0:0,0:104,85:47,66:36,24:-,chr2 g.91777180C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777182 rs2386107 G C 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:16:0:0:11,7:346,213:34.63,0.00:27.18,0.00:7.44,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:124.1,92.9:0,0:0,0:71,42:78,109:52,16:chr2 g.91777181G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777265 rs1809096 G T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:G,T:29:24:0:0:22,7:551,180:0.00,14.44:0.00,15.09:0.00,-0.66:0.00,0.96:0.00,0.99:0.00,0.79:60,60:98.5,114.6:0,0:0,0:64,24:87,127:26,13:-,chr2 g.91777264G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777274 rs1809097 T C 104 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:27:0:0:32:893:104.47:86.21:18.26:1.00:1.00:1.00:60:100.1:0:0:68:83:35:chr2 g.91777273T>C (intergenic),chr2 g.91777273T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91777289 rs4351672 G A 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=2;PC=0.057 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:37:32:0:0:7,30:190,838:14.60,0.00:11.65,0.00:2.94,0.00:0.94,0.00:0.99,0.00:0.69,0.00:60,60:109.7,92.2:0,0:0,0:90,49:61,101:24,36:chr2 g.91777288G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777317 rs1809098 T C 215 nt VT=SNV;PN=A;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C,G,T:63:59:0:0:61,1,1:1879,11,10:214.76,0.18,0.00:201.83,0.18,0.00:12.93,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:87.2,153.0,117.0:0,0,0:0,0,0:29,78,129:122,73,22:25,0,0:chr2 g.91777316T>C (intergenic),chr2 g.91777316T>C (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 2 91777345 rs2386108 G A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,G:86:85:0:0:11,75:339,2525:24.88,0.00:22.69,0.00:2.19,0.00:0.99,0.00:1.00,0.00:0.42,0.00:60,60:94.3,80.4:0,0:0,0:51,38:99,107:39,19:chr2 g.91777344G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777390 rs79036262 C T 91 nt VT=SNV;PN=T;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=10;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:174:173:0:0:1,134,2,37:11,4353,24,1119:-0.27,0.00,-0.28,90.82:-0.27,0.00,-0.28,90.92:-0.00,0.00,-0.00,-0.10:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.48:57,60,60,60:83.0,69.4,85.5,86.2:0,0,0,0:0,0,0,0:3,35,97,46:144,115,53,105:0,24,52,26:-,chr2 g.91777389C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777403 rs4339005 T C 67 nt VT=SNV;PN=G;NN=A;SST=Single;DP=202;DB;DBA=NA;PAF=NA;NP=359;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:202:201:0:0:28,4,170:889,57,4338:67.44,0.31,0.00:64.85,0.38,0.00:2.59,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.84,0.00,0.00:60,60,60:69.6,150.0,70.8:0,0,0:0,0,0:40,67,43:109,72,108:28,33,23:chr2 g.91777402T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777449 rs1809099 T C 942 nt VT=SNV;PN=G;NN=G;SST=Single;DP=316;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:316:290:0:0:2,269,3,42:45,8681,36,1190:1.64,942.02,0.29,0.00:0.75,725.46,0.11,0.00:0.88,216.56,0.17,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:98.0,65.9,72.0,63.0:0,0,0,0:0,0,0,0:94,53,113,50:43,86,35,100:39,31,26,19:chr2 g.91777448T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777453 rs1809870 G C 190 nt VT=SNV;PN=C;NN=G;SST=Single;DP=335;DB;DBA=NA;PAF=NA;NP=169;NP=50 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:335:305:0:0:1,77,257:29,2310,7565:0.58,189.56,0.00:0.67,148.84,0.00:-0.10,40.72,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:38.0,105.1,47.2:0,0,0:0,0,0:0,60,45:151,83,98:0,34,27:chr2 g.91777452G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777455 rs2386109 G A 219 nt VT=SNV;PN=G;NN=G;SST=Single;DP=342;DB;DBA=NA;PAF=NA;NP=1;NP=236;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:342:311:0:0:80,1,261:2615,5,8044:219.08,-0.33,0.00:164.01,-0.24,0.00:55.07,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:103.3,64.0,48.1:0,0,0:0,0,0:53,61,51:95,65,92:30,0,33:chr2 g.91777454G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777508 rs4422204 G A 145 nt VT=SNV;PN=G;NN=G;SST=Single;DP=454;DB;DBA=NA;PAF=NA;NP=436 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:454:366:0:0:59,1,392,2:1926,12,12202,18:144.89,-0.30,0.00,-0.62:91.36,-0.17,0.00,-0.34:53.52,-0.14,0.00,-0.27:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:67.5,120.0,48.4,136.0:0,0,0,0:0,0,0,0:79,36,71,70:70,109,74,61:38,0,31,33:chr2 g.91777507G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777570 rs58141601 G A 138 nt VT=SNV;PN=C;NN=G;SST=Single;DP=416;DB;DBA=NA;PAF=NA;NP=422 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:416:277:0:0:57,1,358:1823,12,10699:137.64,-0.27,0.00:75.11,-0.13,0.00:62.54,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.1,120.0,54.4:0,0,0:0,0,0:77,98,81:74,47,65:32,0,37:chr2 g.91777569G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777596 rs6736131 G A 262 nt VT=SNV;PN=G;NN=G;SST=Single;DP=396;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:396:235:0:0:100,1,294,1:3115,10,9033,10:262.37,-0.35,0.00,-0.35:119.54,-0.16,0.00,-0.16:142.83,-0.19,0.00,-0.19:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:100.1,84.0,49.1,132.0:0,0,0,0:0,0,0,0:77,44,86,29:69,105,65,118:39,0,41,0:chr2 g.91777595G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777622 rs1868874 A G 1059 nt VT=SNV;PN=C;NN=C;SST=Single;DP=378;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:378:216:0:0:56,1,320,1:1534,8,9759,10:0.00,-0.05,1059.21,-0.04:0.00,-0.02,508.39,-0.04:0.00,-0.03,550.82,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:57.2,52.0,84.0,75.0:0,0,0,0:0,0,0,0:65,138,67,115:86,13,84,36:36,0,39,0:-,chr2 g.91777621A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777648 rs6747411 C G 638 nt VT=SNV;PN=T;NN=C;SST=Single;DP=405;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:405:239:0:0:202,203:6145,6627:0.00,637.63:0.00,290.48:0.00,347.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.4,119.9:2,0:0,0:72,69:75,82:42,40:-,chr2 g.91777647C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777660 rs58807880 CG C 1021 nt VT=DEL;SST=Single;DP=424;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2041;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CG,C:424:262:0:327:1,96,327:11,2742,9632:-0.05,0.00,1020.65:-0.01,0.00,530.19:-0.04,0.00,490.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:91.0,61.5,84.0:0,7,0:0,0,0:86,77,63:53,73,88:0,57,37:-,chr2 g.91777661delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777661 rs141431841 G C 28 idl;end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:93:57:0:331:1,14,78:13,380,2097:-0.16,27.81,0.00:-0.18,24.85,0.00:0.02,2.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:41,60,60:238.0,100.8,53.1:1,4,1:0,0,0:17,2,77:134,148,74:0,1,51:chr2 g.91777660G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777703 rs4082168 A G 679 nt VT=SNV;PN=A;NN=G;SST=Single;DP=510;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:510:352:0:0:281,2,226,1:9009,14,7228,8:0.00,-0.45,679.17,-0.23:0.00,-0.25,353.10,-0.13:0.00,-0.20,326.07,-0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,41:27.7,116.0,114.1,173.0:0,0,0,0:0,0,0,0:50,81,68,65:95,66,80,82:30,15,30,0:-,chr2 g.91777702A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777718 rs1868875 C T 719 nt VT=SNV;PN=C;NN=G;SST=Single;DP=542;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:542:380:0:0:307,2,233:9373,30,7682:0.00,-0.19,718.97:0.00,-0.02,395.22:0.00,-0.17,323.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,54,60:26.0,130.5,105.1:0,0,0:0,0,0:58,85,71:86,64,78:34,4,30:-,chr2 g.91777717C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777739 rs4518004 T A 285 nt VT=SNV;PN=A;NN=C;SST=Single;DP=588;DB;DBA=NA;PAF=NA;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:588:424:0:0:114,2,3,469:3557,19,46,14887:285.14,-0.55,-0.14,0.00:188.96,-0.31,0.26,0.00:96.18,-0.24,-0.40,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,56,50,60:41.9,100.0,96.0,52.2:0,0,0,0:0,0,0,0:53,83,66,69:91,67,85,80:29,15,39,35:chr2 g.91777738T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777844 rs545671696 AGATGCTGTG A 1018 nt VT=DEL;SST=Single;DP=529;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2753;PC=1.000;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGATGCTGTG,C,A:529:330:0:327:202,2,325:6700,21,10163:0.00,-0.25,1017.61:0.00,-0.12,458.09:0.00,-0.13,559.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,50,60:21.6,60.0,20.4:0,0,0:0,0,0:106,141,64:36,8,86:31,4,28:-,chr2 g.91777845_91777853delGATGCTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777885 rs6594102 C A 248 nt VT=SNV;PN=G;NN=A;SST=Single;DP=504;DB;DBA=NA;PAF=NA;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:504:261:0:0:100,403,1:3089,13166,8:247.83,0.00,-0.34:82.48,0.00,-0.13:165.35,0.00,-0.21:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,40:55.7,16.9,18.0:0,0,0:0,0,0:77,85,135:72,62,16:32,32,0:chr2 g.91777884C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777902 rs2647769 C T 204 nt VT=SNV;PN=G;NN=C;SST=Single;DP=466;DB;DBA=NA;PAF=NA;NP=241;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:466:213:0:0:3,379,1,83:31,12373,9,2582:-0.78,0.00,-0.31,203.50:-0.30,0.00,-0.08,51.92:-0.48,0.00,-0.23,151.58:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:73.7,20.7,62.0,53.1:0,0,0,0:0,0,0,0:24,89,69,88:127,56,82,58:10,30,0,24:-,chr2 g.91777901C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91777983 rs2558001 T C 195 nt VT=SNV;PN=T;NN=G;SST=Single;DP=236;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:236:48:0:0:76,160:2230,5048:194.76,0.00:25.40,0.00:169.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.5,15.8:0,0:0,0:114,103:37,47:24,28:chr2 g.91777982T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91777987 rs2558000 T C 232 nt VT=SNV;PN=C;NN=G;SST=Single;DP=219;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:219:40:0:0:85,1,133:2552,8,4317:232.34,-0.26,0.00:25.04,-0.03,0.00:207.29,-0.23,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:82.8,74.0,8.3:0,0,0:0,0,0:114,11,106:37,137,45:25,0,27:chr2 g.91777986T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91778108 rs56126656 C CCT 17 rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=16;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:A,C,CCT,D:43:0:8:1:1,33,8,1:10,1031,219,17:-0.13,0.00,16.93,0.31:0.00,0.00,0.00,0.00:-0.13,0.00,16.93,0.31:0.00,0.00,0.97,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.97,0.00:60,60,60,60:74.0,42.2,34.1,51.0:0,0,0,0:0,0,0,0:132,111,73,62:16,40,77,89:0,32,34,0:-,chr2 g.91778108_91778109insCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91778140 rs2557999 C T 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=81;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:0:0:0:17,8:484,254:0.00,22.42:0.00,0.00:0.00,22.42:0.00,0.99:0.00,0.00:0.00,0.99:60,60:33.4,92.4:0,0:0,0:107,110:44,40:15,30:-,chr2 g.91778139C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91778144 rs2557998 G A 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=83;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:0:0:0:8,17:276,548:24.61,0.00:0.00,0.00:24.61,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:92.4,33.4:0,0:0,0:114,111:36,40:30,15:chr2 g.91778143G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91778168 rs2454365 G C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=438 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,G:17:0:0:0:14,3:426,98:45.83,0.00:0.00,0.00:45.83,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.7,30.0:0,0:0,0:126,117:24,33:12,26:chr2 g.91778167G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91780208 rs2433878 G T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,T:4:2:0:0:2,2:69,68:0.00,6.55:0.00,1.59:0.00,4.96:0.00,0.51:0.00,0.79:0.00,0.51:60,60:17.5,34.0:0,0:0,0:90,74:61,76:8,24:-,chr2 g.91780207G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91782647 rs2439114 T C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:3:0:0:3,1:103,34:10.75,0.00:7.60,0.00:3.15,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,60:53.0,0.0:0,0:0,0:86,85:62,66:32,0:chr2 g.91782646T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91790759 rs11335938 GA G 62 rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=GA/0.5,G/0.5;NP=2270;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:45:45:0:21:24,21:768,656:0.00,62.13:0.00,62.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.5,32.9:0,0:0,0:11,48:139,103:10,33:-,chr2 g.91790760delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91790793 rs2647780 C A 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:60:54:0:0:25,35:750,1095:69.22,0.00:64.00,0.00:5.22,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:35.5,12.6:0,0:0,0:61,35:90,114:35,13:chr2 g.91790792C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91791058 rs2557974 G A 149 nt VT=SNV;PN=G;NN=A;SST=Single;DP=121;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:121:52:0:0:51,69,1:1600,2317,10:148.77,0.00,-0.16:45.91,0.00,-0.06:102.86,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:71.2,6.4,108.0:0,0,0:0,0,0:90,96,1:61,52,149:23,27,0:chr2 g.91791057G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91791094 rs2557973 G A 135 nt VT=SNV;PN=C;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:96:24:0:0:49,1,46:1399,10,1548:134.52,-0.10,0.00:18.76,-0.04,0.00:115.76,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:84.6,75.0,1.4:0,0,0:0,0,0:103,96,102:48,55,47:29,0,31:chr2 g.91791093G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91791139 rs2647781 G A 101 nt VT=SNV;PN=A;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:1:0:0:35,32:1044,1036:100.89,0.00:-0.16,0.00:101.05,0.00:1.00,0.00:0.68,0.00:1.00,0.00:60,60:94.1,3.7:0,0:0,0:104,99:46,50:31,39:chr2 g.91791138G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91795142 rs1640013 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:8:8:0:0:4,4:136,101:0.00,9.50:0.00,7.71:0.00,1.79:0.00,0.99:0.00,0.99:0.00,0.67:60,60:7.2,88.8:0,0:0,0:42,51:108,78:17,9:-,chr2 g.91795141A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91795227 rs12478066 C A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:15:15:0:0:3,12:85,395:6.67,0.00:6.67,0.00:0.00,0.00:0.55,0.00:0.55,0.00:0.00,0.00:60,60:63.7,43.4:0,0:0,0:31,49:118,101:31,17:chr2 g.91795226C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91795234 rs2537005 A C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C:15:15:0:0:9,6:266,198:0.00,18.29:0.00,18.29:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:17.7,97.8:0,0:0,0:39,47:111,103:25,9:-,chr2 g.91795233A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91795321 rs1640025 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.9958,A/0.004193;NP=22;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:50:0:0:9,41:298,1123:23.90,0.00:23.90,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:104.4,59.6:0,0:0,0:37,47:114,102:28,29:chr2 g.91795320G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91795325 rs1640026 A G 87 nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.5,G/0.5;NP=1951 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,I:55:55:1:0:27,27,1:755,901,21:0.00,86.79,0.68:0.00,86.79,0.68:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:45.3,88.3,81.0:0,0,0:0,0,0:33,45,3:118,104,148:19,26,0:-,chr2 g.91795324A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91795381 rs4244683 A C 333 nt VT=SNV;PN=A;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:108:107:0:0:14,94:439,3065:0.00,333.22:0.00,310.00:0.00,23.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.5,54.4:0,0:0,0:60,45:91,105:42,29:-,chr2 g.91795380A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91795593 rs553956386 CCAACT C 321 nt VT=DEL;SST=Single;DP=269;DB;DBA=NA;PAF=NA;NP=3391;PC=0.896;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCAACT,C:269:159:0:111:159,110:5100,3472:0.00,320.69:0.00,123.03:0.00,197.66:0.00,1.00:0.00,1.00:0.00,1.00:60,70:15.5,20.7:1,0:0,0:92,78:55,71:41,33:-,chr2 g.91795594_91795598delCAACT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91795675 rs4337515 A G 602 nt VT=SNV;PN=G;NN=C;SST=Single;DP=191;DB;DBA=NA;PAF=A/0.2091,G/0.7909 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:191:90:0:0:24,167:704,5536:0.00,601.77:0.00,180.95:0.00,420.81:0.00,1.00:0.00,1.00:0.00,1.00:60,66:13.3,55.4:0,0:0,0:103,81:46,65:28,29:-,chr2 g.91795674A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91795739 rs4637168 T C 405 nt VT=SNV;PN=G;NN=A;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.006989,C/0.993;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C,G,T:120:24:0:0:112,1,7:3631,11,195:404.77,0.08,0.00:51.97,0.10,0.00:352.80,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:66,60,60:66.2,58.0,7.3:0,0,0:0,0,0:103,131,89:44,18,62:29,0,28:chr2 g.91795738T>C (intergenic),chr2 g.91795738T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91795852 rs56035045 T TA 27 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=52;PC=0.214;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:31:0:10:0:21,10:623,305:0.00,26.83:0.00,0.00:0.00,26.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:24.2,12.8:0,0:0,0:103,80:48,70:26,16:-,chr2 g.91795852_91795853insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91798783 rs60035348 G GA 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5,GA/0.5;DB;DBA=NA;PAF=G/0.5,GA/0.5;NP=10;PC=0.002;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,GA:5:4:3:0:2,3:71,100:0.00,9.97:0.00,8.79:0.00,1.18:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,31.0:0,0:0,0:91,59:58,92:13,17:-,chr2 g.91798783_91798784insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91798925 rs6721937 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.719 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:7:3:0:0:3,4:92,129:0.00,12.73:0.00,4.88:0.00,7.85:0.00,0.90:0.00,0.93:0.00,0.98:60,60:45.0,162.5:0,0:0,0:118,63:33,67:30,33:-,chr2 g.91798924A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91798935 rs6709536 T C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:6:4:0:0:4,2:135,47:13.76,0.00:8.39,0.00:5.37,0.00:0.93,0.00:0.99,0.00:0.97,0.00:60,60:245.8,67.5:0,0:0,0:27,110:123,41:19,18:chr2 g.91798934T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91798965 . CTCTCTCTG C 6 nt VT=DEL;SST=Single;DP=5;PC=0.014;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CTCTCTCTG,C:5:2:0:4:3,2:91,69:0.00,6.39:0.00,3.47:0.00,2.92:0.00,0.46:0.00,0.70:0.00,0.87:60,60:45.0,257.5:0,0:0,0:31,69:119,81:27,28:-,chr2 g.91798966_91798973delTCTCTCTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91798984 rs79853545 T A 12 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,T:7:3:0:0:4,3:124,102:12.23,0.00:7.28,0.00:4.95,0.00:0.90,0.00:0.93,0.00:0.98,0.00:60,60:245.8,45.0:4,0:0,0:66,50:84,98:18,29:chr2 g.91798983T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91798986 rs77206043 T A 12 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:7:3:0:0:4,3:119,103:11.73,0.00:7.28,0.00:4.44,0.00:0.90,0.00:0.93,0.00:0.98,0.00:60,60:245.8,45.0:4,0:0,0:68,52:82,96:18,29:chr2 g.91798985T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91798988 rs78495989 T A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,T:7:3:0:0:4,3:120,104:11.83,0.00:7.28,0.00:4.54,0.00:0.90,0.00:0.93,0.00:0.98,0.00:60,60:245.8,45.0:2,0:0,0:70,54:80,94:18,29:chr2 g.91798987T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91798990 rs75881567 T A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=179 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:7:3:0:0:4,3:123,103:12.13,0.00:7.28,0.00:4.85,0.00:0.90,0.00:0.93,0.00:0.98,0.00:60,60:245.8,45.0:1,0:0,0:72,56:78,92:18,29:chr2 g.91798989T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91799009 rs12052551 A C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,C:8:4:0:0:2,6:68,210:0.00,21.91:0.00,7.35:0.00,14.56:0.00,1.00:0.00,0.85:0.00,1.00:60,60:0.0,203.0:0,0:0,0:60,73:89,61:14,47:-,chr2 g.91799008A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91799030 rs145124417 C CT 17 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5092,CT/0.4908;DB;DBA=NA;PAF=C/0.5092,CT/0.4908;NP=585;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,CT:9:6:6:0:3,6:104,169:0.00,17.27:0.00,8.94:0.00,8.33:0.00,0.99:0.00,0.93:0.00,0.93:60,60:0.0,166.7:0,0:0,0:67,32:82,90:29,8:-,chr2 g.91799030_91799031insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91799063 rs6724918 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:8:6:0:0:4,4:133,138:0.00,13.30:0.00,6.50:0.00,6.80:0.00,0.99:0.00,0.98:0.00,0.98:60,60:34.5,175.0:0,0:0,0:70,58:70,92:44,5:-,chr2 g.91799062A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91799089 rs6729765 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:8:3:0:0:3,5:102,172:0.00,17.29:0.00,2.93:0.00,14.35:0.00,0.97:0.00,0.95:0.00,1.00:60,60:46.0,167.8:0,0:0,0:67,80:65,69:34,11:-,chr2 g.91799088C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91799114 rs6729775 C T 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:8:4:0:0:2,6:68,204:0.00,21.31:0.00,4.93:0.00,16.38:0.00,1.00:0.00,0.85:0.00,1.00:60,60:67.0,155.8:0,0:0,0:75,87:49,62:17,27:-,chr2 g.91799113C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91799128 rs4927495 C T 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:8:4:0:0:1,7:36,226:0.00,24.63:0.00,5.88:0.00,18.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,154.1:0,0:0,0:106,83:45,30:0,36:-,chr2 g.91799127C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91799977 rs2531388 C G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,G:17:17:0:0:13,4:420,117:0.00,9.58:0.00,9.58:0.00,0.00:0.00,0.74:0.00,0.74:0.00,0.00:60,60:19.2,98.8:0,0:0,0:42,57:109,84:18,45:-,chr2 g.91799976C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91800035 rs2537108 T C 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:51:0:0:11,40:340,1346:27.70,0.00:27.76,0.00:-0.05,0.00:1.00,0.00:1.00,0.00:0.48,0.00:60,60:92.4,14.0:0,0:0,0:17,36:134,114:13,23:chr2 g.91800034T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800106 rs2537114 T C 88 nt VT=SNV;PN=C;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:112:104:0:0:32,80:1020,2682:88.17,0.00:77.21,0.00:10.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.1,13.4:0,0:0,0:37,59:108,83:19,25:chr2 g.91800105T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800155 rs2537118 G A 122 nt VT=SNV;PN=A;NN=T;SST=Single;DP=140;DB;DBA=NA;PAF=NA;PC=0.488 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:140:118:0:0:44,96:1393,3085:122.46,0.00:99.62,0.00:22.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.6,11.1:0,0:0,0:60,82:89,63:32,29:chr2 g.91800154G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800211 rs2531389 A T 165 nt VT=SNV;PN=A;NN=C;SST=Single;DP=165;DB;DBA=NA;PAF=NA;PC=0.921 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:165:115:0:0:104,2,1,58:3194,24,12,1834:0.00,-0.16,-0.17,165.17:0.00,0.10,-0.04,109.86:0.00,-0.26,-0.13,55.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:5.3,136.5,239.0,70.5:0,0,0,0:0,0,0,0:60,86,6,84:89,63,145,64:42,60,0,35:-,chr2 g.91800210A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91800347 rs6708765 G A 287 nt VT=SNV;PN=C;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=G/0.5,A/0.5;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:235:152:0:0:94,141:3104,4254:286.69,0.00:176.81,0.00:109.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.8,24.0:0,0:0,0:79,86:67,63:28,24:chr2 g.91800346G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800380 rs6729464 T C 263 nt VT=SNV;PN=C;NN=G;SST=Single;DP=224;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:224:143:0:0:95,129:2846,4112:263.42,0.00:162.69,0.00:100.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:89.4,26.7:0,0:0,0:87,98:59,50:35,31:chr2 g.91800379T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800409 rs2430013 T C 255 nt VT=SNV;PN=G;NN=A;SST=Single;DP=219;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:219:147:0:0:85,1,133:2774,10,3935:254.66,-0.24,0.00:156.65,-0.13,0.00:98.01,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.4,138.0,67.0:1,0,0:0,0,0:76,124,78:75,27,70:48,0,40:chr2 g.91800408T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800445 rs2430014 G A 306 nt VT=SNV;PN=C;NN=A;SST=Single;DP=233;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:233:166:0:0:103,130:3263,3987:305.93,0.00:201.03,0.00:104.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.5,23.6:0,0:0,0:59,47:92,101:38,31:chr2 g.91800444G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800491 rs2429350 T A 419 nt VT=SNV;PN=A;NN=G;SST=Single;DP=314;DB;DBA=NA;PAF=NA;PC=0.679 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:314:243:0:0:139,1,1,173:4459,13,10,5544:419.01,-0.16,-0.19,0.00:252.77,-0.07,-0.10,0.00:166.25,-0.09,-0.09,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:58.2,89.0,182.0,14.9:0,0,0,0:0,0,0,0:41,60,84,49:105,91,66,99:26,0,0,29:chr2 g.91800490T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800715 rs1640040 A G 285 nt VT=SNV;PN=C;NN=T;SST=Single;DP=205;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:205:97:0:0:107,97,1:3300,3006,10:0.00,285.50,-0.18:0.00,101.13,-0.09:0.00,184.37,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:19.2,53.4,70.0:0,0,0:0,0,0:71,77,55:71,73,89:43,35,0:-,chr2 g.91800714A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91800791 rs6726379 A G 73 nt VT=SNV;PN=C;NN=A;SST=Single;DP=190;DB;DBA=NA;PAF=NA;NP=2851;PC=0.855 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:190:95:0:0:154,3,32,1:4629,33,949,22:0.00,-0.51,73.20,0.19:0.00,-0.23,16.49,0.38:0.00,-0.28,56.71,-0.19:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:34.6,150.0,87.9,163.0:0,0,0,0:0,0,0,0:81,77,74,54:63,72,76,95:32,2,34,0:-,chr2 g.91800790A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91800832 rs1640041 C T 98 nt VT=SNV;PN=G;NN=C;SST=Single;DP=161;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:161:84:0:0:1,121,1,38:10,3790,10,1174:-0.25,0.00,-0.25,97.61:-0.13,0.00,-0.13,37.53:-0.12,0.00,-0.12,60.08:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:39,60,60,60:197.0,48.9,172.0,55.6:0,0,0,0:0,0,0,0:74,96,72,87:73,52,79,63:0,30,0,30:-,chr2 g.91800831C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91800863 rs1640042 T G 260 nt VT=SNV;PN=G;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:137:71:0:0:1,83,53:12,2602,1640:-0.05,260.16,0.00:0.06,111.74,0.00:-0.11,148.43,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:80.0,72.8,42.4:0,0,0:0,0,0:133,88,81:18,61,60:0,42,32:chr2 g.91800862T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800890 rs9749947 G A 64 nt VT=SNV;PN=G;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:116:57:0:0:25,1,89,1:784,19,2900,7:64.31,0.14,0.00,-0.31:31.28,-0.15,0.00,-0.15:33.03,0.29,0.00,-0.16:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,39,60,12:64.1,197.0,61.7,250.0:0,0,0,0:0,0,0,0:101,132,74,79:49,15,77,64:32,0,36,0:chr2 g.91800889G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800939 rs1640043 T C 178 nt VT=SNV;PN=G;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:108:58:0:0:1,54,1,52:10,1842,8,1635:-0.11,178.05,-0.15,0.00:-0.00,78.13,-0.09,0.00:-0.11,99.92,-0.06,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:256.0,94.1,22.0,18.2:0,0,0,0:0,0,0,0:45,91,3,71:106,58,148,79:0,32,0,41:chr2 g.91800938T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91800960 rs1640044 G C 160 nt VT=SNV;PN=A;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:104:57:0:0:53,51:1657,1688:159.65,0.00:68.07,0.00:91.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.5,15.0:0,0:0,0:90,69:61,82:34,42:chr2 g.91800959G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91801214 rs2109934 C T 61 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:20:0:0:0:3,17:100,567:0.00,61.14:0.00,0.00:0.00,61.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.3,62.5:0,0:0,0:62,116:89,35:27,17:-,chr2 g.91801213C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91801259 rs7369449 T G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.050 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:G,T:10:0:0:0:5,5:145,169:13.86,0.00:0.00,0.00:13.86,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:123.4,12.2:0,0:0,0:96,80:55,70:18,27:chr2 g.91801258T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91801272 rs1640045 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:11:0:0:0:5,6:141,197:13.19,0.00:0.00,0.00:13.19,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:123.4,10.2:0,0:0,0:109,77:42,73:18,41:chr2 g.91801271T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91801284 rs56833157 CT C 15 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CT/0.5,C/0.5;NP=975;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:CT,C:11:0:0:5:6,5:207,163:0.00,15.39:0.00,0.00:0.00,15.39:0.00,0.93:0.00,0.00:0.00,0.93:60,60:10.2,123.4:0,0:0,0:89,121:61,30:41,18:-,chr2 g.91801285delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91801297 rs12052420 G A 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=7;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:10:0:0:0:4,6:131,201:12.09,0.00:0.00,0.00:12.09,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:130.0,10.2:0,0:0,0:122,102:28,48:18,41:chr2 g.91801296G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91809039 rs1649490 G A 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:8,9:268,265:25.51,0.00:23.69,0.00:1.82,0.00:0.99,0.00:0.99,0.00:0.65,0.00:60,60:52.9,0.0:0,0:0,0:116,40:34,110:15,37:chr2 g.91809038G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91809227 rs2536993 A G 154 nt VT=SNV;PN=C;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:115:105:0:0:62,1,52:2024,12,1631:0.00,-0.10,153.78:0.00,-0.19,115.50:0.00,0.09,38.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.7,12.0,54.8:0,0,0:0,0,0:49,11,52:101,140,96:25,0,35:-,chr2 g.91809226A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91809324 rs2536994 C T 217 nt VT=SNV;PN=A;NN=G;SST=Single;DP=193;DB;DBA=NA;PAF=NA;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:193:130:0:0:117,76:3680,2373:0.00,217.28:0.00,96.47:0.00,120.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,88.3:0,0:0,0:65,70:84,79:39,32:-,chr2 g.91809323C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91809385 rs2310687 C G 189 nt VT=SNV;PN=G;NN=C;SST=Single;DP=195;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:195:117:0:0:1,127,66,1:11,4181,2114,10:-0.21,0.00,189.04,-0.22:-0.06,0.00,65.20,-0.12:-0.15,0.00,123.84,-0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,46,53:32.0,8.4,107.8,31.0:0,1,0,0:0,0,0,0:128,72,92,66:23,72,58,85:0,31,31,0:-,chr2 g.91809384C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91809404 rs2215642 G C 182 nt VT=SNV;PN=G;NN=A;SST=Single;DP=184;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:184:106:0:0:61,123:2039,3964:182.26,0.00:60.18,0.00:122.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:111.6,8.6:0,1:0,0:102,80:49,63:33,30:chr2 g.91809403G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91809456 rs2191971 T G 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:117:58:0:0:36,81:1150,2550:100.80,0.00:30.45,0.00:70.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:107.2,9.5:0,0:0,0:85,106:65,37:25,22:chr2 g.91809455T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91809468 rs4005009 C CTAA 61 nt VT=INS;SST=Single;DP=107;DB;DBA=NA;PAF=NA;PC=0.005;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTAA:107:47:24:0:83,24:2628,742:0.00,60.96:0.00,20.31:0.00,40.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.9,103.9:0,0:0,0:119,80:23,67:17,15:-,chr2 g.91809468_91809469insTAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91809470 rs2386154 G A 64 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:41:0:0:24,67:751,2165:63.77,0.00:20.64,0.00:43.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:106.3,6.2:24,0:0,0:93,111:56,37:15,22:chr2 g.91809469G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91809472 rs55833633 G GTGACTAACAA 62 nt VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTGACTAACAA:88:39:24:0:64,24:2068,726:0.00,61.65:0.00,19.06:0.00,42.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,106.3:0,0:0,0:114,95:30,54:21,15:-,chr2 g.91809472_91809473insTGACTAACAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91809607 rs1640001 T C 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:0:0:0:11,22:336,711:29.72,0.00:0.00,0.00:29.72,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.0,13.5:0,0:0,0:130,95:20,56:17,27:chr2 g.91809606T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91817144 rs1649479 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:7:7:0:0:3,4:101,109:9.48,0.00:9.48,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:102.7,3.0:0,0:0,0:27,85:124,64:22,4:chr2 g.91817143T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91817185 rs1649478 G A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:10:10:0:0:4,6:134,197:12.39,0.00:10.76,0.00:1.63,0.00:0.84,0.00:0.84,0.00:0.70,0.00:60,60:85.2,21.7:0,0:0,0:57,97:94,53:24,33:chr2 g.91817184G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91842719 rs4004923 A AT 15 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.360;Gene=LOC654342/NR_027238.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,AT,D:12:15:8:1:6,5,1:144,255,34:0.00,15.05,2.52:0.00,13.40,2.52:0.00,1.65,0.00:0.00,0.89,0.00:0.00,0.89,0.00:0.00,0.56,0.00:60,58,60:85.7,43.0,31.0:0,3,0:0,0,0:34,39,111:116,111,40:28,30,0:-,NR_027238.1(LOC654342) n.254+226_254+227insA:-,NOT_FOUND:-,NOT_FOUND 2 91842888 rs2537075 A G 253 nt VT=SNV;PN=C;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=NA;NP=685;PC=0.216;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:119:112:0:0:35,84:1133,2448:0.00,253.46:0.00,234.63:0.00,18.83:0.00,1.00:0.00,1.00:0.00,1.00:55,49:11.2,37.8:0,0:0,0:59,42:92,109:41,33:-,NR_027238.1(LOC654342) n.254+58T>C:-,NOT_FOUND:-,NOT_FOUND 2 91842903 . G A 26 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=141;NP=1;PC=0.589;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:141:126:0:0:13,128:381,4194:25.62,0.00:26.86,0.00:-1.24,0.00:1.00,0.00:1.00,0.00:0.94,0.00:42,55:44.5,23.1:0,0:0,0:14,40:135,109:3,26:NR_027238.1(LOC654342) n.254+43C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 91843321 . G A 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=93;PC=0.025;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:93:74:0:0:23,70:744,2228:62.80,0.00:48.07,0.00:14.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,17.5:0,0:0,0:54,76:95,74:37,28:NR_027238.1(LOC654342) n.176+73C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 91843403 rs112527890 T C 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.7147,C/0.2853;NP=898;PC=0.016;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:99:67:0:0:20,3,76:622,31,2425:50.42,-0.20,0.00:4.95,-0.07,0.00:45.48,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:27,53,60:61.6,91.0,10.2:0,0,0:0,0,0:118,63,65:32,88,76:26,9,28:NR_027238.1(LOC654342) n.167A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 91843433 rs79561279 T C 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=0.007;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:95:61:0:0:16,79:524,2674:41.34,0.00:6.05,0.00:35.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,60:81.2,11.0:0,0:0,0:96,87:54,57:16,35:NR_027238.1(LOC654342) n.137A>G,-:0.19,-:NOT_FOUND,- 2 91843471 rs113954000 C T 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=2721;PC=0.004;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:99:59:0:0:89,10:2864,314:0.00,22.16:0.00,3.64:0.00,18.52:0.00,0.98:0.00,0.99:0.00,1.00:60,43:12.5,82.6:0,0:0,0:80,47:70,80:44,32:-,NR_027238.1(LOC654342) n.99G>A:-,NOT_FOUND:-,NOT_FOUND 2 91843587 rs2537076 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=17;PC=0.028;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:22:0:0:48,11:1574,343:0.00,27.23:0.00,6.13:0.00,21.10:0.00,1.00:0.00,0.97:0.00,1.00:51,33:6.3,55.3:0,0:0,0:99,142:47,5:29,6:-,NR_027238.1(LOC654342) n.42-59T>C:-,NOT_FOUND:-,NOT_FOUND 2 91845721 rs2659297 T C 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.5208,C/0.4792;NP=3;PC=0.022;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:27:0:0:11,17:364,555:33.50,0.00:34.04,0.00:-0.54,0.00:1.00,0.00:1.00,0.00:0.87,0.00:43,52:52.3,2.4:0,0:0,0:30,63:119,87:20,26:NR_027238.1(LOC654342) n.42-2193A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 91845772 rs28427264 G A 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=3;PC=0.015;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:36:0:0:11,29:363,869:31.34,0.00:32.10,0.00:-0.76,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,52:51.3,12.9:0,0:0,0:34,52:116,99:29,29:NR_027238.1(LOC654342) n.41+2163C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 91846019 . A T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;NP=394;PC=0.004;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G,T:28:1:0:0:23,1,4:745,5,139:0.00,-0.29,10.89:0.00,0.08,0.00:0.00,-0.37,10.89:0.00,0.00,0.96:0.00,0.00,0.43:0.00,0.00,0.95:60,40,40:13.8,17.0,79.0:0,0,0:0,0,0:83,150,94:68,1,56:44,0,14:-,NR_027238.1(LOC654342) n.41+1916T>A:-,NOT_FOUND:-,NOT_FOUND 2 91846114 rs9679073 A C 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=16;PC=0.247;Gene=LOC654342/NR_027238.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:17:0:0:0:8,9:205,277:0.00,26.91:0.00,0.00:0.00,26.91:0.00,1.00:0.00,0.00:0.00,1.00:59,51:9.4,40.7:0,0:0,0:97,111:53,40:36,32:-,NR_027238.1(LOC654342) n.41+1821T>G:-,NOT_FOUND:-,NOT_FOUND 2 91872387 rs2537167 C G 72 nt VT=SNV;PN=G;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=841 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:63:63:0:0:38,25:1255,781:0.00,71.62:0.00,71.73:0.00,-0.11:0.00,1.00:0.00,1.00:0.00,0.60:50,51:7.1,41.8:0,0:0,0:53,79:94,71:24,22:-,chr2 g.91872386C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91872493 rs2658038 T C 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=1291;PC=0.680 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:86:67:0:0:2,20,2,62:23,599,23,1778:-0.06,49.69,-0.06,0.00:-0.29,23.55,0.07,0.00:0.23,26.14,-0.13,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,40,50,60:91.5,76.7,16.0,7.8:0,0,0,0:0,0,0,0:57,31,82,46:92,119,68,96:44,27,67,26:chr2 g.91872492T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91872554 rs2659232 T G 98 nt VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=1302;PC=0.975 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:94:68:0:0:33,61:1088,2014:98.08,0.00:44.57,0.00:53.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:85.8,11.4:0,0:0,0:64,76:87,63:16,31:chr2 g.91872553T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91872634 rs4004789 C T 130 nt VT=SNV;PN=C;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=C/0.5006,T/0.4994;NP=1242 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:152:104:0:0:105,1,46:3355,7,1479:0.00,-0.29,129.54:0.00,-0.16,72.48:0.00,-0.13,57.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,2,48:27.4,106.0,161.2:0,0,0:0,0,0:44,104,52:105,45,93:30,0,23:-,chr2 g.91872633C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91872635 rs4004790 C T 128 nt VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=C/0.5006,T/0.4994;NP=1031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:153:103:0:0:107,46:3313,1465:0.00,127.84:0.00,68.44:0.00,59.39:0.00,1.00:0.00,1.00:0.00,1.00:60,48:27.3,161.2:0,0:0,0:49,53:98,92:32,23:-,chr2 g.91872634C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91872651 rs2840894 T C 411 nt VT=SNV;PN=A;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=NA;PC=0.277 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:172:119:0:0:126,1,45:3937,7,1465:410.74,-0.09,0.00:274.37,-0.06,0.00:136.37,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:48,27,60:82.1,7.0,12.0:0,0,0:0,0,0:51,0,49:99,151,100:30,0,32:chr2 g.91872650T>C (intergenic),-:0.93,-:NOT_FOUND,- 2 91872674 rs4004791 T C 188 nt VT=SNV;PN=G;NN=A;SST=Single;DP=227;DB;DBA=NA;PAF=NA;NP=992;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:227:161:0:0:66,2,159:2157,27,4983:188.06,-0.13,0.00:104.01,0.06,0.00:84.05,-0.18,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:48,48,60:136.7,104.0,19.7:0,0,0:0,0,0:56,38,44:91,90,104:36,19,27:chr2 g.91872673T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91872704 rs62144186 G A 269 nt VT=SNV;PN=C;NN=T;SST=Single;DP=288;DB;DBA=NA;PAF=NA;NP=2845;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:288:211:0:0:94,194:3026,6096:268.54,0.00:163.59,0.00:104.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:110.9,15.0:0,0:0,0:45,50:102,100:26,29:chr2 g.91872703G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91872807 rs62144187 G A 425 nt VT=SNV;PN=C;NN=G;SST=Single;DP=351;DB;DBA=NA;PAF=NA;NP=3423;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:351:231:0:0:140,210,1:4608,6375,10:425.41,0.00,-0.24:219.99,0.00,-0.13:205.42,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,53,27:57.6,11.8,15.0:0,0,0:0,0,0:66,82,57:82,65,93:32,30,0:chr2 g.91872806G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91872938 rs76753239 A G 183 nt VT=SNV;PN=C;NN=G;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=1161;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:215:130:0:0:145,70:4744,2085:0.00,182.93:0.00,63.67:0.00,119.26:0.00,1.00:0.00,1.00:0.00,1.00:60,43:9.7,103.6:0,0:0,0:59,101:80,50:34,30:-,chr2 g.91872937A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91872945 rs2840892 A G 201 nt VT=SNV;PN=G;NN=A;SST=Single;DP=207;DB;DBA=NA;PAF=NA;NP=805;PC=0.471 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:207:124:0:0:136,2,68,1:4273,20,2247,10:0.00,-0.39,200.79,-0.24:0.00,-0.24,59.41,-0.12:0.00,-0.15,141.38,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,27,40,3:7.8,41.5,102.2,60.0:0,0,0,0:0,0,0,0:65,64,102,134:81,86,49,16:37,29,29,0:-,chr2 g.91872944A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873005 rs77587901 C T 288 nt VT=SNV;PN=C;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=NA;NP=1743 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:235:152:0:0:143,92:4398,3126:0.00,288.24:0.00,151.66:0.00,136.58:0.00,1.00:0.00,1.00:0.00,1.00:53,44:7.8,128.5:0,0:0,0:83,46:63,103:34,22:-,chr2 g.91873004C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873013 rs78077197 T G 275 nt VT=SNV;PN=G;NN=C;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=1570;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:226:148:0:0:90,136:2981,4103:275.14,0.00:140.38,0.00:134.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,51:134.9,6.6:0,0:0,0:46,70:102,74:19,34:chr2 g.91873012T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91873025 rs139222171 C T 269 nt VT=SNV;PN=T;NN=G;SST=Single;DP=227;DB;DBA=NA;PAF=NA;NP=2506;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:227:152:0:0:137,90:4362,2922:0.00,268.96:0.00,139.35:0.00,129.61:0.00,1.00:0.00,1.00:0.00,1.00:51,44:7.3,133.9:0,0:0,0:92,50:56,100:34,18:-,chr2 g.91873024C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873118 rs202225768 G A 260 nt VT=SNV;PN=A;NN=G;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=2612;PC=0.320 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:215:106:0:0:88,1,126:2808,5,4140:259.77,-0.26,0.00:83.58,-0.12,0.00:176.19,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,42,44:122.5,27.0,6.9:0,0,0:0,0,0:99,116,81:51,35,64:29,0,33:chr2 g.91873117G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91873133 rs200433141 G A 221 nt VT=SNV;PN=C;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=NA;NP=1215;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:198:91:0:0:72,126:2431,3860:221.12,0.00:60.42,0.00:160.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,44:117.8,7.9:0,0:0,0:102,87:46,62:20,34:chr2 g.91873132G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91873162 rs201242203 C T 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=175;DB;DBA=NA;PAF=NA;NP=4;PC=0.969 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:175:86:0:0:1,154,20:14,4744,628:-0.25,0.00,45.49:-0.17,0.00,7.33:-0.08,0.00,38.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,44,43:26.0,25.2,115.0:0,0,0:0,0,0:87,101,114:63,48,37:0,31,10:-,chr2 g.91873161C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873204 . C T 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=121;NP=2;NP=6;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T:121:74:0:0:109,12:3658,358:0.00,24.56:0.00,8.63:0.00,15.94:0.00,0.99:0.00,1.00:0.00,1.00:43,43:8.7,121.0:0,0:0,0:69,138:77,12:35,3:-,chr2 g.91873203C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873418 rs199542291 G C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=11;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,G:40:10:0:0:8,32:207,909:15.87,0.00:5.39,0.00:10.49,0.00:1.00,0.00:0.85,0.00:0.99,0.00:27,40:50.5,24.9:0,0:0,0:46,64:105,87:29,33:chr2 g.91873417G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91873492 rs2840886 G C 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=6;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,G:47:23:0:0:9,38:247,1128:19.06,0.00:4.45,0.00:14.62,0.00:0.98,0.00:0.98,0.00:0.98,0.00:27,40:89.2,22.5:0,0:0,0:90,76:61,72:18,47:chr2 g.91873491G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91873592 rs2537168 G A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G,T:66:57:0:0:8,57,1:223,1800,10:15.66,0.00,-0.23:16.27,0.00,-0.30:-0.62,0.00,0.07:0.94,0.00,0.00:1.00,0.00,0.00:0.77,0.00,0.00:27,42,27:110.2,14.8,170.0:0,0,0:0,0,0:77,63,128:73,87,22:16,33,0:chr2 g.91873591G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91873624 . A G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=69;NP=48;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C,G:69:58:0:0:61,1,7:1888,10,215:0.00,-0.24,15.07:0.00,-0.14,15.83:0.00,-0.10,-0.76:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,0.81:50,45,27:13.0,103.0,117.3:0,0,0:0,0,0:64,44,99:87,80,51:32,0,20:-,chr2 g.91873623A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873729 rs10203172 C T 86 nt VT=SNV;PN=A;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:76:0:0:95,33:3022,1016:0.00,85.64:0.00,51.68:0.00,33.96:0.00,1.00:0.00,1.00:0.00,1.00:60,56:8.4,98.8:0,0:0,0:72,11:75,140:34,3:-,chr2 g.91873728C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873759 rs2659229 C T 164 nt VT=SNV;PN=A;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:148:83:0:0:88,2,58:2757,27,1791:0.00,0.01,164.14:0.00,0.04,64.54:0.00,-0.03,99.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,44:6.6,80.5,89.0:0,0,0:0,0,0:81,60,29:67,90,121:28,3,9:-,chr2 g.91873758C>T (intergenic):-,0.24:-,NOT_FOUND 2 91873835 rs9326662 A G 209 nt VT=SNV;PN=C;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=NA;NP=914 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:151:74:0:0:84,67:2715,2220:0.00,208.93:0.00,64.20:0.00,144.73:0.00,1.00:0.00,1.00:0.00,1.00:60,44:10.0,83.3:0,0:0,0:95,100:54,50:34,16:-,chr2 g.91873834A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91873887 rs9326663 T C 88 nt VT=SNV;PN=G;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=NA;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:85:28:0:0:30,2,53:977,18,1680:88.44,-0.22,0.00:9.95,0.06,0.00:78.49,-0.28,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,40,60:80.4,151.5,8.5:0,0,0:0,0,0:123,101,99:27,35,40:13,43,24:chr2 g.91873886T>C (intergenic),-:0.14,-:NOT_FOUND,- 2 91874030 rs2840882 A G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.03774,G/0.9623;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:4:0:0:0:2,2:66,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:42,40:3.0,35.0:0,0:0,0:116,114:34,36:27,4:-,chr2 g.91874029A>G (intergenic):-,0.93:-,NOT_FOUND 2 91884263 rs58025141 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=238 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:4:0:0:1,3:35,102:0.00,10.65:0.00,10.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:50,33:0.0,45.0:0,0:0,0:127,48:23,103:0,4:-,chr2 g.91884262C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91884390 rs58650935 T C 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=1354 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:26:0:0:18,9:526,294:53.70,0.00:47.85,0.00:5.85,0.00:1.00,0.00:1.00,0.00:0.91,0.00:42,49:43.7,14.4:0,0:0,0:31,54:119,97:17,32:chr2 g.91884389T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91884532 rs3880333 T G 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.8484,G/0.1516;NP=1078;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:45:36:0:0:14,31:366,915:31.16,0.00:20.44,0.00:10.72,0.00:1.00,0.00:1.00,0.00:0.99,0.00:27,60:58.9,8.5:0,0:0,0:18,84:132,67:7,32:chr2 g.91884531T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91884553 rs61094257 AT A 33 nt VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=11;PC=1.000;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:49:36:0:20:29,20:913,380:0.00,33.00:0.00,20.78:0.00,12.22:0.00,1.00:0.00,1.00:0.00,1.00:60,51:2.9,54.5:0,0:0,0:74,28:77,123:45,12:-,chr2 g.91884554delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91884576 rs4041772 T C 100 nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=1430;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:43:0:0:31,32:1043,1035:100.12,0.00:62.88,0.00:37.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:46.9,2.5:0,0:0,0:29,49:116,94:13,39:chr2 g.91884575T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91884897 rs3880331 T A 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=342 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,T:11:0:0:0:8,3:278,94:28.82,0.00:0.00,0.00:28.82,0.00:1.00,0.00:0.00,0.00:1.00,0.00:56,50:73.4,0.0:0,0:0,0:102,125:48,26:32,25:chr2 g.91884896T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91884911 rs3880330 A T 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=285 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,T:9:0:0:0:2,7:65,225:0.00,23.77:0.00,0.00:0.00,23.77:0.00,1.00:0.00,0.00:0.00,1.00:50,56:0.0,79.0:0,0:0,0:118,110:32,40:20,31:-,chr2 g.91884910A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91885859 rs3968251 C A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1160 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,C:7:7:0:0:3,4:101,134:9.46,0.00:9.46,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:40,50:88.7,17.8:0,0:0,0:93,21:57,129:9,3:chr2 g.91885858C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91885883 rs11491303 T C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1468;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:14:13:0:0:8,6:241,189:23.73,0.00:24.10,0.00:-0.37,0.00:1.00,0.00:1.00,0.00:0.71,0.00:40,50:59.8,6.0:0,0:0,0:31,25:119,126:29,21:chr2 g.91885882T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91885946 rs62144254 T C 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=1074;PC=0.632 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:31:0:0:14,25:407,758:36.31,0.00:27.08,0.00:9.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,58:44.0,17.2:0,0:0,0:17,40:133,111:13,23:chr2 g.91885945T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91886030 rs200548911 GAA G 34 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=GAA/0.5503,G/0.4497;NP=932;PC=0.011;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GAA,I,G:44:29:12:16:1,16,12,15:33,499,179,399:1.97,0.00,14.53,34.21:-0.07,0.00,10.75,18.65:2.04,0.00,3.78,15.56:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:1,58,40,50:109.0,15.9,27.6,38.7:1,0,0,1:0,0,0,0:102,87,97,94:49,64,44,56:0,23,17,14:-,chr2 g.91886031_91886032delAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91886070 rs3881824 A G 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=2573;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:17:0:0:21,13:684,394:0.00,35.77:0.00,6.83:0.00,28.94:0.00,1.00:0.00,1.00:0.00,1.00:58,40:23.0,55.8:0,0:0,0:125,115:26,36:10,15:-,chr2 g.91886069A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91886089 rs62144256 C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1609 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:10:0:0:20,8:673,268:0.00,23.34:0.00,4.34:0.00,19.00:0.00,0.98:0.00,0.94:0.00,1.00:58,42:30.8,39.2:0,0:0,0:120,124:30,25:21,20:-,chr2 g.91886088C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91887842 rs9750455 T C 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1921;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:34:0:0:15,21:453,610:41.87,0.00:42.44,0.00:-0.57,0.00:1.00,0.00:1.00,0.00:0.82,0.00:55,60:57.3,29.9:0,0:0,0:52,52:99,95:18,26:chr2 g.91887841T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91887905 rs374250838 A T 16 idl;mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.63,AT/0.07847;DB;DBA=NA;PAF=A/0.63,T/0.2915;NP=102;NP=211;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,G,T,I,D:53:53:8:6:36,1,6,6,4:1148,9,212,120,123:0.00,-0.15,16.46,6.08,4.93:0.00,-0.13,12.16,2.74,2.26:0.00,-0.02,4.30,3.35,2.66:0.00,0.00,0.83,0.00,0.00:0.00,0.00,0.98,0.00,0.00:0.00,0.00,0.68,0.00,0.00:55,15,15,42,41:29.2,116.0,68.0,98.3,72.8:0,0,1,2,2:0,0,0,0,0:60,53,84,44,80:89,75,64,98,68:41,0,18,19,9:-,chr2 g.91887904A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91887961 rs202182840 G A 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=1197 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:50:36:0:0:11,37,2:291,1101,20:23.16,0.00,-0.01:19.94,0.00,0.25:3.22,0.00,-0.27:1.00,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:49,49,45:75.7,17.6,62.0:0,0,0:0,0,0:99,74,110:41,63,39:14,22,36:chr2 g.91887960G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91888125 rs28477326 C T 79 nt VT=SNV;PN=A;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=1584;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:17:0:0:23,27:623,808:0.00,78.73:0.00,39.16:0.00,39.57:0.00,1.00:0.00,1.00:0.00,1.00:40,40:15.3,41.1:0,0:0,0:91,77:60,73:31,23:-,chr2 g.91888124C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91888217 rs371438400 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.7011,T/0.2989;NP=695 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:12:0:0:18,7:518,233:0.00,20.22:0.00,15.33:0.00,4.89:0.00,0.96:0.00,0.96:0.00,0.97:40,40:26.7,54.9:0,0:0,0:78,104:71,47:44,31:-,chr2 g.91888216C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91888374 rs150617818 A G 97 nt VT=SNV;PN=A;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=NA;NP=2774 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:111:86:0:0:78,33:2481,1102:0.00,96.62:0.00,68.71:0.00,27.91:0.00,1.00:0.00,1.00:0.00,1.00:52,51:17.5,43.2:0,0:0,0:54,48:91,103:29,22:-,chr2 g.91888373A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91888456 rs62145662 C A 121 nt VT=SNV;PN=A;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=3450;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:134:97:0:0:43,91:1373,2966:121.30,0.00:68.86,0.00:52.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,52:38.5,14.7:0,0:0,0:80,72:71,76:34,40:chr2 g.91888455C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91888700 rs78405093 G A 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=80 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:0:0:0:12,9:383,306:37.80,0.00:0.00,0.00:37.80,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,51:55.7,6.7:0,0:0,0:72,111:77,40:19,25:chr2 g.91888699G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91888740 rs62145663 T C 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=66 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,T:16:0:0:0:11,5:324,152:33.26,0.00:0.00,0.00:33.26,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,51:59.1,10.4:0,0:0,0:97,105:54,46:23,24:chr2 g.91888739T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91888939 rs3970018 A G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:117:13.56:0.00:13.56:1.00:0.00:1.00:42:39.2:0:0:92:58:23:chr2 g.91888938A>G (intergenic),chr2 g.91888938A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 91893801 rs3881808 A C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1199;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:29:28:0:0:16,13:520,394:0.00,36.91:0.00,37.30:0.00,-0.39:0.00,1.00:0.00,1.00:0.00,0.75:42,42:0.6,41.1:0,0:0,0:40,23:110,128:17,18:-,chr2 g.91893800A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91894073 rs3880305 T G 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=164 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:29:0:0:13,39:440,1226:37.51,0.00:35.45,0.00:2.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:52.8,9.6:0,0:0,0:37,70:113,81:13,40:chr2 g.91894072T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91894194 rs3868462 C T 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=3372;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:50:0:0:54,28:1844,924:0.00,82.90:0.00,38.15:0.00,44.75:0.00,1.00:0.00,1.00:0.00,1.00:60,58:5.2,47.7:0,0:0,0:85,71:62,76:21,19:-,chr2 g.91894193C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91894273 rs371979798 G A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=541 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:A,G:42:10:0:0:7,35:225,1148:17.62,0.00:1.11,0.00:16.51,0.00:0.94,0.00:0.78,0.00:1.00,0.00:42,43:57.1,22.9:0,0:0,0:127,126:23,25:22,16:chr2 g.91894272G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91894294 rs3880303 A G 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=2158 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:4:0:0:20,12:636,420:0.00,38.53:0.00,1.42:0.00,37.11:0.00,1.00:0.00,0.85:0.00,1.00:43,42:31.7,39.1:0,0:0,0:100,87:50,63:26,30:-,chr2 g.91894293A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91894393 rs3871304 C T 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=632 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:0:0:0:7,6:223,196:0.00,18.58:0.00,0.00:0.00,18.58:0.00,0.97:0.00,0.00:0.00,0.97:50,27:30.6,52.0:0,0:0,0:50,106:100,43:13,10:-,chr2 g.91894392C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91894486 rs3870936 G C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=263 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,G:5:0:0:0:4,1:130,34:13.82,0.00:0.00,0.00:13.82,0.00:0.96,0.00:0.00,0.00:0.96,0.00:27,50:55.0,0.0:0,0:0,0:133,143:17,7:7,0:chr2 g.91894485G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91899505 rs2494563 C G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.509,A/.,G/0.491,T/.;NP=191 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:5:5:0:0:3,2:74,71:0.00,6.60:0.00,6.60:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:51,27:18.7,71.0:0,0:0,0:26,77:124,72:26,21:-,chr2 g.91899504C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91899588 rs199940353 A G 12 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9335,G/0.06649;NP=329 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:14:14:0:0:10,4:308,141:0.00,12.37:0.00,12.37:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,15:16.2,68.8:0,0:0,0:41,68:109,82:28,27:-,chr2 g.91899587A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91899625 rs566726868 CA C 14 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CA/0.6338,C/0.3662;NP=35;PC=0.001;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:CA,I,C:16:19:3:7:9,2,5:251,35,185:0.00,1.25,13.70:0.00,1.25,13.70:0.00,0.00,0.00:0.00,0.00,0.86:0.00,0.00,0.86:0.00,0.00,0.00:60,15,59:18.4,71.0,33.8:0,1,2:0,0,0:92,56,43:59,95,108:26,7,12:-,chr2 g.91899626delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91899684 rs2494561 A G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=220;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,G,T:31:30:0:0:26,3,2:737,98,18:0.00,7.05,-0.03:0.00,3.30,-0.03:0.00,3.75,0.00:0.00,0.42,0.00:0.00,0.88,0.00:0.00,0.32,0.00:60,21,27:16.6,64.0,79.0:1,1,0:0,0,0:52,19,56:96,132,94:26,17,29:-,chr2 g.91899683A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91899746 rs4060383 G T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=157 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:G,T:38:31:0:0:32,6:951,157:0.00,11.41:0.00,12.30:0.00,-0.89:0.00,0.88:0.00,0.98:0.00,0.89:57,21:14.4,117.2:0,0:0,0:72,55:79,95:35,20:-,chr2 g.91899745G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91899815 rs113030648 C T 29 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:23:0:0:36,11:1176,350:0.00,29.15:0.00,32.04:0.00,-2.89:0.00,1.00:0.00,0.99:0.00,1.00:50,27:11.5,111.7:0,0:0,0:74,66:76,83:24,44:-,chr2 g.91899814C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91899835 rs202132578 C T 38 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=0.051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:24:0:0:37,13:1077,443:0.00,38.09:0.00,38.01:0.00,0.08:0.00,1.00:0.00,1.00:0.00,1.00:40,27:11.1,107.0:0,0:0,0:89,64:62,83:25,39:-,chr2 g.91899834C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91899884 rs7369633 T C 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:17:0:0:11,34:364,1078:30.79,0.00:10.67,0.00:20.12,0.00:1.00,0.00:0.98,0.00:1.00,0.00:27,52:101.0,15.0:0,0:0,0:66,102:85,45:48,36:chr2 g.91899883T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91899924 rs4927448 A T 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=47;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:38:11:0:0:24,14:723,448:0.00,40.63:0.00,7.31:0.00,33.32:0.00,1.00:0.00,0.99:0.00,1.00:55,27:13.1,63.6:0,0:0,0:74,55:76,95:43,1:-,chr2 g.91899923A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91902472 rs3871301 G C 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=278 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:19:19:0:0:1,9,9:8,293,294:0.04,28.15,0.00:0.04,28.15,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:41,42,40:65.0,60.0,30.2:0,0,0:0,0,0:76,29,45:73,122,104:0,20,20:chr2 g.91902471G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91902603 rs202059076 C A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.998,A/0.001997;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,C:31:31:0:0:5,26:146,882:11.04,0.00:11.31,0.00:-0.27,0.00:0.80,0.00:0.80,0.00:0.67,0.00:42,60:52.2,9.6:0,0:0,0:140,30:11,117:9,29:chr2 g.91902602C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91902657 rs3870929 T C 22 sb;mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=1;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:26:0:0:8,32:265,1016:21.63,0.00:-1.94,0.00:23.57,0.00:1.00,0.00:0.99,0.00:0.99,0.00:15,60:43.4,5.6:0,0:0,0:19,57:131,93:3,21:chr2 g.91902656T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91923720 rs4060236 C T 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=717;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:10,13:314,390:0.00,38.33:0.00,38.33:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:58,40:16.7,127.5:0,0:0,0:43,15:106,136:35,6:-,chr2 g.91923719C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91923784 rs4060237 T C 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:46:0:0:23,26:806,802:76.88,0.00:61.59,0.00:15.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:118.7,23.3:0,0:0,0:58,31:91,111:21,20:chr2 g.91923783T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91923795 rs4060238 A C 96 nt VT=SNV;PN=A;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=119 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:57:53:0:0:28,29:899,990:0.00,95.68:0.00,70.87:0.00,24.81:0.00,1.00:0.00,1.00:0.00,1.00:60,52:23.4,111.5:0,0:0,0:36,58:106,93:19,31:-,chr2 g.91923794A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91923805 rs3880226 G C 183 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.03634,C/0.9637 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:63:59:0:0:51,12:1719,367:182.99,0.00:138.30,0.00:44.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:78.5,1.9:0,0:0,0:45,69:104,82:27,29:chr2 g.91923804G>C (intergenic),-:0.94,-:NOT_FOUND,- 2 91923995 rs4004396 T C 34 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:21:0:0:14,45:412,1484:33.84,0.00:-1.76,0.00:35.61,0.00:1.00,0.00:0.99,0.00:1.00,0.00:41,60:65.6,2.4:0,0:0,0:118,71:32,78:16,29:chr2 g.91923994T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91923999 rs4060221 A G 32 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:56:21:0:0:44,12:1479,393:0.00,32.40:0.00,-1.52:0.00,33.91:0.00,1.00:0.00,0.98:0.00,1.00:60,40:3.5,72.1:0,0:0,0:74,119:75,30:29,13:-,chr2 g.91923998A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91924137 rs3880225 A G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.7238,G/0.2762;NP=744 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:2:0:0:13,7:386,212:0.00,18.92:0.00,6.84:0.00,12.07:0.00,0.97:0.00,0.65:0.00,1.00:51,40:5.1,85.1:0,0:0,0:110,46:41,92:14,14:-,chr2 g.91924136A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91924211 rs3880224 T G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5254,G/0.4746;NP=711 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:G,T:11:1:0:0:6,5:183,164:17.87,0.00:3.01,0.00:14.85,0.00:0.98,0.00:0.70,0.00:1.00,0.00:40,42:88.2,0.0:0,0:0,0:115,130:24,21:10,4:chr2 g.91924210T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91924270 rs28714982 G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=696;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:5:0:0:0:3,2:89,67:8.87,0.00:0.00,0.00:8.87,0.00:0.78,0.00:0.00,0.00:0.78,0.00:24,42:47.0,0.0:0,0:0,0:26,124:125,26:6,23:chr2 g.91924269G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91924556 rs3862278 G A 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.108 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:353:40.51:40.51:0.00:1.00:1.00:0.00:43:105.4:0:0:28:122:13:chr2 g.91924555G>A (intergenic),chr2 g.91924555G>A (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 2 91924590 rs4004376 A G 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.037 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,C,G:14:14:0:0:3,1,10:99,10,294:0.00,0.36,31.04:0.00,0.36,31.04:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,40,43:11.3,54.0,113.7:0,0,0:0,0,0:24,49,64:125,98,86:16,0,14:-,chr2 g.91924589A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91924655 rs4004377 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=570;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:29:29:0:0:19,9,1:585,272,11:0.00,23.87,0.05:0.00,24.19,0.08:0.00,-0.32,-0.03:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.78,0.00:60,43,43:10.0,116.2,91.0:0,0,0:0,0,0:34,127,142:116,23,6:12,13,0:-,chr2 g.91924654A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91924782 rs28380329 C A 180 nt VT=SNV;PN=T;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=NA;NP=1415;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:133:119:0:0:60,73:1916,2477:180.42,0.00:143.36,0.00:37.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:69.7,1.7:0,0:0,0:35,73:113,77:20,36:chr2 g.91924781C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91924804 rs925176 T C 227 nt VT=SNV;PN=A;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=NA;NP=3047;PC=0.927 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:149:132:0:0:72,77:2377,2510:227.27,0.00:185.02,0.00:42.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,60:62.7,3.7:0,0:0,0:53,78:96,71:23,38:chr2 g.91924803T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91925022 rs4004381 C A 238 nt VT=SNV;PN=G;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=NA;NP=1303;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:143:73:0:0:79,64:2436,2114:238.46,0.00:73.38,0.00:165.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,52:46.1,12.0:0,0:0,0:94,85:56,63:29,44:chr2 g.91925021C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91925139 rs62143830 C G 104 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;NP=557 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:83:25:0:0:49,34:1610,1118:0.00,103.64:0.00,-3.66:0.00,107.29:0.00,1.00:0.00,1.00:0.00,1.00:50,40:8.5,80.0:0,0:0,0:99,121:52,28:25,22:-,chr2 g.91925138C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91925151 rs4386371 C T 82 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=0.048 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:24:0:0:44,27:1334,896:0.00,82.08:0.00,-3.11:0.00,85.19:0.00,1.00:0.00,1.00:0.00,1.00:50,40:6.6,83.6:0,0:0,0:100,102:43,48:16,31:-,chr2 g.91925150C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 91925267 rs4569522 T C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,T:13:0:0:0:3,10:103,300:8.69,0.00:0.00,0.00:8.69,0.00:0.58,0.00:0.00,0.00:0.58,0.00:35,60:109.3,6.4:0,0:0,0:137,98:14,52:1,34:chr2 g.91925266T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 91927348 rs115528025 G A 211 nt VT=SNV;PN=T;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.9643,A/0.03574;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:132:72:0:0:66,66:2194,2123:211.15,0.00:77.48,0.00:133.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,6.0:0,0:0,0:93,74:56,73:23,30:chr2 g.91927347G>A (intergenic),-:0.05,-:NOT_FOUND,- 2 91944003 rs76159807 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.9978,C/0.002196 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:61:50:0:0:9,52:253,1586:18.62,0.00:10.71,0.00:7.92,0.00:0.98,0.00:1.00,0.00:0.96,0.00:41,60:54.8,16.4:0,0:0,0:31,58:120,87:6,32:chr2 g.91944002T>C (intergenic),-:0.02,-:NOT_FOUND,- 2 91944151 rs62142698 C T 14 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C,T:82:47:0:0:1,75,6:12,2278,202:-0.21,0.00,13.79:0.01,0.00,1.72:-0.22,0.00,12.06:0.00,0.00,0.77:0.00,0.00,0.90:0.00,0.00,0.95:56,60,40:40.0,4.0,102.5:0,0,0:0,0,0:137,61,129:13,87,19:0,37,14:-,chr2 g.91944150C>T (intergenic):-,0.02:-,NOT_FOUND 2 91968857 . T C 63 nt VT=SNV;PN=G;NN=T;SST=Single;DP=155;PC=0.031;Gene=GGT8P/NR_003503.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:155:104:0:0:24,131:802,3846:62.71,0.00:34.43,0.00:28.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:146.1,8.0:0,0:0,0:59,87:90,62:11,38:NR_003503.1(GGT8P) n.1188T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 91968882 . G A 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=158;NP=33;PC=0.002;Gene=GGT8P/NR_003503.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:158:113:0:0:20,138:637,4309:47.29,0.00:27.14,0.00:20.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:151.7,9.8:0,0:0,0:79,67:68,80:8,44:NR_003503.1(GGT8P) n.1213G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 91968886 rs371448237 G A 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=40;Gene=GGT8P/NR_003503.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:153:110:0:0:23,129,1:771,4094,11:60.04,0.00,-0.30:30.67,0.00,-0.14:29.37,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,60,57:148.9,7.7,49.0:0,0,0:0,0,0:84,65,26:63,80,125:10,41,0:NR_003503.1(GGT8P) n.1217G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 91968909 rs374193069 C T 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=46;Gene=GGT8P/NR_003503.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:153:110:0:0:129,24:3909,815:0.00,64.11:0.00,25.92:0.00,38.20:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.4,141.9:0,1:0,0:69,102:75,44:36,9:-,NR_003503.1(GGT8P) n.1240C>T:-,NOT_FOUND:-,NOT_FOUND 2 91968961 . G A 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=148;NP=2;PC=0.005;Gene=GGT8P/NR_003503.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:148:99:0:0:12,136:419,4353:29.55,0.00:7.50,0.00:22.04,0.00:0.99,0.00:1.00,0.00:1.00,0.00:55,60:135.0,8.0:0,0:0,0:53,80:97,69:18,38:NR_003503.1(GGT8P) n.1292G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 91968965 rs200616091 T G 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=GGT8P/NR_003503.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:G,T:145:101:0:0:11,134:375,4021:25.86,0.00:5.72,0.00:20.14,0.00:0.98,0.00:1.00,0.00:0.99,0.00:55,60:132.0,6.5:0,0:0,0:55,63:95,82:11,37:NR_003503.1(GGT8P) n.1296T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 92028236 . G GCCC 7 nt VT=INS;SST=Single;DP=6;PC=0.209;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:G,GCCC:6:3:4:0:2,4:46,68:0.00,6.62:0.00,3.11:0.00,3.51:0.00,0.93:0.00,0.97:0.00,0.93:60,56:76.5,203.5:0,0:0,0:99,19:51,81:37,6:-,chr2 g.92028236_92028237insCCC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028243 . A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;PC=0.166 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,C,G:7:4:0:0:2,1,4:62,9,128:0.00,0.45,13.00:0.00,-0.10,3.08:0.00,0.55,9.92:0.00,0.00,0.90:0.00,0.00,0.97:0.00,0.00,0.99:60,60,58:14.5,153.0,209.8:0,0,0:0,0,0:48,69,32:101,81,68:47,0,9:-,chr2 g.92028242A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028254 rs192273545 A C 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.227 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,C,T:7:3:0:0:2,4,1:56,106,10:0.00,10.77,0.54:0.00,2.92,-0.07:0.00,7.86,0.61:0.00,0.90,0.00:0.00,0.93,0.00:0.00,0.99,0.00:60,56,60:14.5,204.0,153.0:0,0,0:0,0,0:59,40,80:90,60,70:47,6,0:-,chr2 g.92028253A>C (intergenic):-,0.09:-,NOT_FOUND 2 92028266 . T C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;PC=0.249 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:7:3:0:0:4,3:106,94:10.42,0.00:2.72,0.00:7.71,0.00:0.90,0.00:0.93,0.00:0.99,0.00:56,60:204.0,60.7:0,0:0,0:52,92:48,58:6,27:chr2 g.92028265T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028294 . A C 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;PC=0.782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,C:7:3:0:0:3,4:66,123:0.00,12.15:0.00,3.02:0.00,9.14:0.00,0.90:0.00,0.93:0.00,0.99:60,56:60.7,204.0:0,0:0,0:120,80:30,20:27,6:-,chr2 g.92028293A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028298 . C T 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;PC=0.798 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:6:3:0:0:2,4:65,135:0.00,13.75:0.00,3.17:0.00,10.58:0.00,0.93:0.00,0.97:0.00,0.99:60,58:86.5,210.2:0,0:0,0:90,87:60,13:34,9:-,chr2 g.92028297C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028307 rs79905418 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.875 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,G:6:3:0:0:2,4:51,138:0.00,14.05:0.00,3.23:0.00,10.83:0.00,0.93:0.00,0.97:0.00,0.99:60,56:86.5,204.0:0,0:0,0:99,93:51,7:34,6:-,chr2 g.92028306A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028320 . G C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;PC=0.965 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:C,G:5:2:0:0:3,2:83,35:8.35,0.00:1.52,0.00:6.83,0.00:0.78,0.00:0.87,0.00:0.97,0.00:58,60:213.3,86.5:0,0:0,0:113,112:-2,38:13,34:chr2 g.92028319G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028388 rs77720115 C G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.774 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,G:9:9:0:1:6,3:130,87:0.00,7.66:0.00,7.66:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,48:25.0,245.7:0,0:0,0:33,39:107,84:13,16:-,chr2 g.92028387C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028412 rs371239122 T TTG 12 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.314;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:T,TTG:14:13:5:0:9,5:252,135:0.00,11.94:0.00,12.13:0.00,-0.19:0.00,0.90:0.00,0.99:0.00,0.57:60,48:46.4,233.0:0,0:0,0:44,46:107,93:24,19:-,chr2 g.92028412_92028413insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028431 rs76052895 G A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.092 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:15:0:0:8,8:220,227:20.98,0.00:17.50,0.00:3.48,0.00:1.00,0.00:1.00,0.00:0.67,0.00:48,60:239.4,22.6:0,0:0,0:56,63:84,88:30,28:chr2 g.92028430G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028445 rs76477880 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:17:0:0:6,12:208,330:18.71,0.00:18.89,0.00:-0.18,0.00:0.94,0.00:1.00,0.00:0.56,0.00:48,60:254.0,51.3:0,0:0,0:59,69:91,74:33,27:chr2 g.92028444T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028446 rs114933628 G A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,G,T:18:17:0:0:6,11,1:178,341,8:15.86,0.00,-0.01:16.03,0.00,0.01:-0.18,0.00,-0.03:0.94,0.00,0.00:1.00,0.00,0.00:0.56,0.00,0.00:48,60,31:254.0,42.0,154.0:0,0,0:0,0,0:60,78,63:90,73,57:33,33,0:chr2 g.92028445G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028460 rs78333716 C T 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:18:0:0:12,7:378,214:0.00,19.29:0.00,19.49:0.00,-0.20:0.00,0.98:0.00,1.00:0.00,0.58:60,48:38.5,239.7:0,0:0,0:75,77:75,54:23,31:-,chr2 g.92028459C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028479 rs72934307 A C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:17:0:0:10,8:309,234:0.00,21.83:0.00,16.50:0.00,5.34:0.00,0.99:0.00,1.00:0.00,0.74:60,48:11.8,239.4:0,1:0,0:71,102:79,39:33,30:-,chr2 g.92028478A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028512 rs75343803 T C 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:26:0:0:10,18:315,526:28.37,0.00:25.62,0.00:2.74,0.00:1.00,0.00:1.00,0.00:0.76,0.00:48,60:259.1,21.8:0,0:0,0:25,50:124,100:16,39:chr2 g.92028511T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028523 rs143858109 C G 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:25:24:0:0:16,8,1:482,279,9:0.00,25.09,-0.03:0.00,21.97,-0.01:0.00,3.12,-0.02:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.71,0.00:60,48,37:8.9,261.9,241.0:0,0,0:0,0,0:32,27,109:117,123,42:22,7,0:-,chr2 g.92028522C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028527 rs76358052 G T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:26:25:0:0:17,9:517,211:0.00,18.08:0.00,14.65:0.00,3.42:0.00,0.99:0.00,1.00:0.00,0.64:60,48:7.6,259.6:0,0:0,0:30,31:120,118:25,7:-,chr2 g.92028526G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028566 rs200729554 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:34:31:0:0:28,6:895,184:0.00,14.40:0.00,11.78:0.00,2.62:0.00,0.89:0.00,0.99:0.00,0.83:60,40:6.5,258.2:0,0:0,0:36,74:112,76:22,3:-,chr2 g.92028565C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028574 rs201590209 C T 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.256 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:37:33:0:0:31,6:1045,164:0.00,12.16:0.00,9.63:0.00,2.53:0.00,0.88:0.00,0.99:0.00,0.87:60,40:8.6,258.2:0,0:0,0:43,82:104,68:28,3:-,chr2 g.92028573C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028575 rs200051463 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.9978,G/0.002196;NP=5;PC=0.288 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,G:38:34:0:0:32,6:1066,203:0.00,15.97:0.00,13.33:0.00,2.64:0.00,0.88:0.00,0.99:0.00,0.86:60,40:8.3,258.2:0,0:0,0:42,83:105,67:26,3:-,chr2 g.92028574A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028580 rs200813178 G T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.367 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:G,T:38:34:0:0:32,6:1060,198:0.00,15.47:0.00,13.10:0.00,2.37:0.00,0.88:0.00,0.99:0.00,0.89:60,40:7.7,258.2:0,0:0,0:47,88:100,62:26,3:-,chr2 g.92028579G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028614 rs72934309 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=130;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:50:43:0:0:44,6:1400,202:0.00,15.10:0.00,12.84:0.00,2.26:0.00,0.85:0.00,0.98:0.00,0.85:60,40:14.0,258.2:0,0:0,0:62,122:89,28:36,3:-,chr2 g.92028613C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028717 rs373060855 C T 13 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=35;PC=0.514 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:59:35:0:0:52,7:1645,190:0.00,13.10:0.00,-0.54:0.00,13.64:0.00,0.91:0.00,0.96:0.00,0.99:60,60:11.9,133.0:0,0:0,0:71,38:71,108:39,8:-,chr2 g.92028716C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92028751 rs72936128 T A 19 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=315;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,T:61:30:0:0:9,52:260,1630:19.25,0.00:-1.42,0.00:20.67,0.00:0.98,0.00:0.97,0.00:1.00,0.00:40,60:133.9,8.5:0,0:0,0:64,85:86,61:11,28:chr2 g.92028750T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028774 rs74393953 T C 18 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=124;PC=0.137 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,T:61:26:0:0:9,52:246,1657:17.88,0.00:-1.17,0.00:19.05,0.00:0.98,0.00:0.95,0.00:1.00,0.00:40,60:133.9,8.6:0,0:0,0:87,86:63,61:11,30:chr2 g.92028773T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028837 rs191676780 G C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=261;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,G:35:10:0:0:5,30:141,894:10.27,0.00:-0.44,0.00:10.70,0.00:0.98,0.00:0.72,0.00:0.97,0.00:40,60:103.6,14.3:0,0:0,0:113,100:38,50:11,31:chr2 g.92028836G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92028865 rs372168123 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=221;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:C,T:24:6:0:0:4,20:93,587:6.57,0.00:-0.28,0.00:6.84,0.00:0.68,0.00:0.64,0.00:0.96,0.00:52,60:89.8,18.9:0,0:0,0:135,103:16,48:5,19:chr2 g.92028864T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92030960 rs74740688 G T 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:G,T:11:11:0:0:6,5:161,153:0.00,14.41:0.00,14.41:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,49:22.5,268.6:0,0:0,0:82,16:61,134:20,7:-,chr2 g.92030959G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92030985 rs377388685 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.444 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G,T:13:13:0:0:6,6,1:201,160,12:19.34,0.00,0.43:19.34,0.00,0.43:0.00,0.00,0.00:0.97,0.00,0.00:0.97,0.00,0.00:0.00,0.00,0.00:49,60,59:265.0,15.2,52.0:0,0,0:0,0,0:37,66,115:112,84,22:8,40,0:chr2 g.92030984G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92030989 rs370386928 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.413 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:14:14:0:0:8,6:209,192:0.00,17.93:0.00,17.93:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,49:17.9,265.0:0,0:0,0:70,41:80,108:48,8:-,chr2 g.92030988C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031002 rs374659884 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.175 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:17:16:0:0:11,6:337,196:0.00,17.67:0.00,18.05:0.00,-0.38:0.00,0.95:0.00,1.00:0.00,0.75:60,49:15.7,265.0:0,0:0,0:12,54:139,95:9,8:-,chr2 g.92031001C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031005 rs367956628 G A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.100 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:17:0:0:7,12:224,332:20.31,0.00:20.91,0.00:-0.60,0.00:0.98,0.00:1.00,0.00:0.84,0.00:49,60:261.1,14.4:0,0:0,0:54,13:96,137:9,8:chr2 g.92031004G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031018 rs370828436 C G 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:17:0:0:11,8:335,234:0.00,21.58:0.00,22.29:0.00,-0.70:0.00,0.99:0.00,1.00:0.00,0.89:60,49:11.7,254.1:0,0:0,0:28,63:123,86:9,12:-,chr2 g.92031017C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031023 rs374150309 C A 21 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:19:0:0:7,16:241,412:21.33,0.00:22.18,0.00:-0.85,0.00:0.97,0.00:1.00,0.00:0.90,0.00:49,60:254.9,24.8:0,0:0,0:64,27:85,124:15,21:chr2 g.92031022C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031030 rs368515322 A T 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C,T:25:21:0:0:16,3,6:465,106,186:0.00,8.38,15.84:0.00,8.69,16.50:0.00,-0.30,-0.65:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.82:60,31,49:8.2,245.3,237.3:0,0,0:0,0,0:34,27,82:117,124,67:23,15,10:-,chr2 g.92031029A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031108 rs371753749 A G 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=203;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:43:0:0:35,19:1129,597:0.00,53.55:0.00,47.94:0.00,5.61:0.00,1.00:0.00,1.00:0.00,1.00:60,40:10.4,178.7:0,0:0,0:47,46:90,104:39,16:-,chr2 g.92031107A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031111 rs536521219 T C 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=13;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:45:0:0:20,36:626,1171:56.27,0.00:47.81,0.00:8.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:168.3,12.6:0,0:0,0:49,39:101,94:15,30:chr2 g.92031110T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031125 rs77564203 G A 68 nt VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=164;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:53:0:0:25,41:746,1297:67.50,0.00:52.84,0.00:14.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:163.0,11.7:0,0:0,0:54,45:96,96:20,27:chr2 g.92031124G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031179 rs75069572 G A 131 nt VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.9988,A/0.001198;NP=270;PC=0.272 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:69:0:0:41,49:1385,1458:131.16,0.00:88.17,0.00:42.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:150.7,11.1:0,1:0,0:49,65:101,86:31,32:chr2 g.92031178G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031184 rs77844773 G A 139 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=NA;PC=0.268 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:72:0:0:44,48:1455,1382:138.93,0.00:94.15,0.00:44.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:149.5,9.7:0,0:0,0:49,66:102,85:26,29:chr2 g.92031183G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031253 rs72936134 G T 212 nt VT=SNV;PN=T;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=NA;PC=0.369 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:135:105:0:0:62,73:2014,2181:0.00,212.25:0.00,127.20:0.00,85.05:0.00,1.00:0.00,1.00:0.00,1.00:60,56:10.6,161.8:0,0:0,0:63,60:80,88:41,32:-,chr2 g.92031252G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031291 rs75005588 A C 242 nt VT=SNV;PN=G;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=957;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:153:112:0:0:75,78:2267,2506:0.00,241.74:0.00,128.38:0.00,113.36:0.00,1.00:0.00,1.00:0.00,1.00:60,57:10.4,188.3:0,0:0,0:60,74:70,61:35,25:-,chr2 g.92031290A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031304 rs75106422 C T 199 nt VT=SNV;PN=G;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=128;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:147:104:0:0:75,2,70:2430,21,2094:0.00,-0.15,199.07:0.00,0.08,100.03:0.00,-0.23,99.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,43,56:9.7,127.0,210.1:0,0,0:0,0,0:65,40,74:72,93,69:33,36,25:-,chr2 g.92031303C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031317 rs78966651 G A 214 nt VT=SNV;PN=G;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:152:106:0:0:72,80:2257,2548:214.37,0.00:109.94,0.00:104.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:197.0,10.6:0,0:0,0:82,69:58,74:27,36:chr2 g.92031316G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031352 . C T 178 nt VT=SNV;PN=G;NN=T;SST=Single;DP=137;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:137:79:0:0:76,61:2493,1902:0.00,178.37:0.00,66.87:0.00,111.50:0.00,1.00:0.00,1.00:0.00,1.00:60,49:15.3,228.5:0,0:0,0:77,80:71,71:35,31:-,chr2 g.92031351C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031353 . T C 198 nt VT=SNV;PN=C;NN=G;SST=Single;DP=137;PC=0.647 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:137:79:0:0:61,76:2099,2496:198.13,0.00:78.93,0.00:119.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,60:231.8,15.4:0,0:0,0:90,76:60,71:36,35:chr2 g.92031352T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031354 . G A 191 nt VT=SNV;PN=T;NN=T;SST=Single;DP=137;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:137:79:0:0:62,75:2023,2438:190.90,0.00:77.94,0.00:112.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,60:235.6,16.8:0,0:0,0:95,80:56,69:31,35:chr2 g.92031353G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031365 rs78311618 C T 240 nt VT=SNV;PN=A;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=5;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:153:93:0:0:1,75,77:35,2218,2490:1.60,0.00,240.14:0.81,0.00,93.57:0.80,0.00,146.57:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,49:35.0,19.9,186.6:0,0,0:0,0,0:26,87,64:124,62,86:0,34,47:-,chr2 g.92031364C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031373 rs74775836 G T 247 nt VT=SNV;PN=G;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=8;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:153:99:0:0:74,79:2349,2549:0.00,246.63:0.00,105.60:0.00,141.03:0.00,1.00:0.00,1.00:0.00,1.00:60,49:17.2,155.1:0,0:0,0:66,41:84,104:32,32:-,chr2 g.92031372G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031435 rs200900914 T TC 139 nt VT=INS;SST=Single;DP=145;DB;DBA=NA;PAF=NA;PC=1.000;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TC:145:84:69:0:1,75,69:17,2421,1499:0.08,0.00,138.79:-0.11,0.00,31.56:0.18,0.00,107.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,40:17.0,15.0,99.4:0,1,0:0,0,0:129,92,82:22,59,61:0,38,21:-,chr2 g.92031435_92031436insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031550 rs79465546 C T 58 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:96:50:0:0:75,21:2366,696:0.00,57.74:0.00,-3.11:0.00,60.86:0.00,1.00:0.00,1.00:0.00,1.00:60,40:8.7,109.2:0,0:0,0:70,131:80,20:35,16:-,chr2 g.92031549C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031556 rs201637367 A G 42 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:89:47:0:0:73,16:2284,528:0.00,42.24:0.00,-3.62:0.00,45.86:0.00,1.00:0.00,1.00:0.00,1.00:60,40:8.7,130.9:0,0:0,0:68,119:78,31:36,17:-,chr2 g.92031555A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92031557 rs75049724 T A 37 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:88:47:0:0:15,73:471,2243:36.85,0.00:-3.39,0.00:40.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:134.3,8.7:0,0:0,0:118,63:32,86:14,32:chr2 g.92031556T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92031566 rs79974806 C T 28 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:88:49:0:0:76,12:2393,374:0.00,27.95:0.00,-2.60:0.00,30.55:0.00,1.00:0.00,1.00:0.00,1.00:60,40:8.6,135.9:0,0:0,0:71,123:78,27:32,8:-,chr2 g.92031565C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92047220 rs11900033 A G 6 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=10;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:5:0:0:3,2:98,69:0.00,6.39:0.00,6.39:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:55,12:36.3,124.5:0,0:0,0:31,32:120,116:10,12:-,chr2 g.92047219A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92047307 rs201561247 G C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,G:11:11:0:0:5,6:165,159:15.63,0.00:15.63,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:25,57:158.8,11.8:0,0:0,0:62,64:89,85:18,46:chr2 g.92047306G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92047310 rs202211380 A C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,C:11:11:0:0:6,5:199,175:0.00,16.59:0.00,16.59:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:57,25:11.8,158.8:0,0:0,0:67,65:82,86:46,18:-,chr2 g.92047309A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92047328 rs80312709 T C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;PC=0.099 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,T:12:12:0:0:4,8:140,227:12.60,0.00:12.69,0.00:-0.09,0.00:0.80,0.00:0.80,0.00:0.56,0.00:25,57:172.5,9.9:0,0:0,0:81,55:70,95:9,40:chr2 g.92047327T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92047350 rs79402909 C A 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=180;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:15:0:0:8,9:247,301:23.41,0.00:20.97,0.00:2.44,0.00:0.99,0.00:1.00,0.00:0.86,0.00:40,57:166.8,5.8:0,0:0,0:21,38:130,113:11,20:chr2 g.92047349C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92047381 rs74625192 T C 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=307;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:27:0:0:17,14:544,447:53.21,0.00:38.15,0.00:15.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:152.2,17.4:0,0:0,0:26,43:125,107:19,28:chr2 g.92047380T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92047432 rs199967157 G C 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=351;NP=61;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:41:35:0:0:23,18:781,512:76.92,0.00:42.18,0.00:34.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:140.2,15.5:0,0:0,0:53,53:90,88:19,33:chr2 g.92047431G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92047438 rs77712042 T C 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=114;PC=0.911 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:35:0:0:23,18:786,555:77.34,0.00:42.10,0.00:35.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:137.6,15.5:0,0:0,0:60,49:83,97:16,24:chr2 g.92047437T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92047442 rs2873765 C T 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=149;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:35:0:0:19,24:594,769:0.00,75.49:0.00,40.44:0.00,35.05:0.00,1.00:0.00,1.00:0.00,1.00:60,52:14.7,137.4:0,0:0,0:61,62:84,82:30,18:-,chr2 g.92047441C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92047529 rs4059877 G A 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=208;PC=0.743 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:12:0:0:17,15:538,493:52.30,0.00:10.63,0.00:41.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,60:110.5,6.9:0,0:0,0:113,98:23,52:29,14:chr2 g.92047528G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92047549 rs2318653 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=60;PC=0.176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:4:0:0:12,9:425,273:0.00,25.35:0.00,1.22:0.00,24.13:0.00,1.00:0.00,0.89:0.00,1.00:60,40:4.8,87.4:0,0:0,0:114,106:36,44:14,14:-,chr2 g.92047548C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92071444 . G A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G:18:2:0:0:3,15:100,497:7.91,0.00:-0.16,0.00:8.07,0.00:0.52,0.00:0.42,0.00:0.89,0.00:40,60:99.3,24.7:3,1:0,0:113,108:24,43:13,31:chr2 g.92071443G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075308 rs28637449 G A 9 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:8:8:0:0:3,5:95,138:8.64,0.00:8.74,0.00:-0.10,0.00:0.67,0.00:0.67,0.00:0.58,0.00:31,60:112.0,10.2:0,0:0,0:3,63:147,58:2,29:chr2 g.92075307G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075334 rs28655567 T A 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=5;PC=0.459 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,T:14:14:0:0:3,11:93,356:7.57,0.00:7.57,0.00:0.00,0.00:0.56,0.00:0.56,0.00:0.00,0.00:31,60:84.3,36.2:0,1:0,0:29,22:121,129:2,17:chr2 g.92075333T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075443 rs374328625 A G 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=1233;PC=0.503 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G:39:37:0:0:35,4:1088,139:0.00,10.21:0.00,10.45:0.00,-0.23:0.00,0.59:0.00,0.94:0.00,0.53:60,40:19.3,92.2:0,0:0,0:60,108:91,42:38,6:-,chr2 g.92075442A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075449 rs28671553 A T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=100;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,T:38:36:0:0:34,4:1164,107:0.00,7.10:0.00,7.36:0.00,-0.27:0.00,0.60:0.00,0.94:0.00,0.57:60,31:16.4,101.8:0,0:0,0:66,121:84,28:36,19:-,chr2 g.92075448A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075453 rs28639456 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=1125 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:C,T:38:36:0:0:30,8:985,215:0.00,16.84:0.00,17.46:0.00,-0.61:0.00,0.97:0.00,1.00:0.00,0.86:60,40:6.3,97.0:0,0:0,0:64,118:86,32:31,12:-,chr2 g.92075452C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075572 rs28449591 T C 49 nt VT=SNV;PN=G;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:107:78:0:0:1,18,88:15,611,2762:-0.09,48.74,0.00:-0.19,30.19,0.00:0.10,18.55,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:21,40,60:162.0,144.2,42.1:0,0,0:0,0,0:3,55,51:147,96,97:0,21,26:chr2 g.92075571T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075584 rs58932462 G A 57 nt VT=SNV;PN=C;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=7;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:112:82:0:0:21,91:705,2969:57.05,0.00:32.60,0.00:24.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:146.1,43.1:0,0:0,0:55,52:95,92:24,26:chr2 g.92075583G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075596 rs11240889 C T 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=1911;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:86:0:0:104,14:3468,455:0.00,33.53:0.00,16.41:0.00,17.12:0.00,1.00:0.00,1.00:0.00,1.00:60,49:53.6,133.5:0,0:0,0:73,46:73,98:27,17:-,chr2 g.92075595C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075603 rs56975285 C G 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=422;PC=0.950 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:124:93:0:0:98,26:3291,867:0.00,71.46:0.00,36.58:0.00,34.89:0.00,1.00:0.00,1.00:0.00,1.00:60,45:44.5,142.7:0,0:0,0:62,60:83,87:32,35:-,chr2 g.92075602C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075610 rs201740141 G T 64 nt VT=SNV;PN=G;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:120:90:0:0:96,24:3140,785:0.00,63.90:0.00,25.21:0.00,38.70:0.00,1.00:0.00,1.00:0.00,1.00:60,46:52.9,123.8:0,0:0,0:58,59:85,82:30,19:-,chr2 g.92075609G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075615 rs111681132 A G 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=3098;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:86:0:0:90,28:3108,921:0.00,77.39:0.00,35.85:0.00,41.54:0.00,1.00:0.00,1.00:0.00,1.00:60,46:52.3,114.6:0,0:0,0:62,76:83,70:30,19:-,chr2 g.92075614A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075618 rs113086124 T C 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=NA;NP=3091;PC=0.905 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:119:86:0:0:28,91:966,2897:81.78,0.00:33.94,0.00:47.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,60:116.1,52.4:0,0:0,0:77,75:69,73:20,32:chr2 g.92075617T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075628 rs59720433 A G 76 nt VT=SNV;PN=A;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=740;PC=0.990 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:116:84:0:0:90,26:2913,905:0.00,76.11:0.00,34.95:0.00,41.16:0.00,1.00:0.00,1.00:0.00,1.00:60,45:45.5,139.0:0,0:0,0:88,85:57,62:26,36:-,chr2 g.92075627A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075681 rs11240890 G C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=531 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,G:95:44:0:0:8,87:244,2904:16.43,0.00:7.31,0.00:9.12,0.00:0.92,0.00:0.92,0.00:0.99,0.00:45,60:101.4,70.0:0,0:0,0:122,107:23,42:21,23:chr2 g.92075680G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075703 rs56896224 AC A 19 nt VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=18;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:AC,A:68:22:0:14:54,14:1597,269:0.00,18.83:0.00,3.68:0.00,15.15:0.00,1.00:0.00,0.98:0.00,1.00:60,41:51.1,126.6:0,0:0,0:110,104:38,36:21,9:-,chr2 g.92075704delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075709 rs11240891 A G 92 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=990;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:20:0:0:32,30:1005,963:0.00,91.98:0.00,12.17:0.00,79.80:0.00,1.00:0.00,1.00:0.00,1.00:60,49:13.8,128.1:0,14:0,0:108,114:42,29:16,21:-,chr2 g.92075708A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92075713 rs12233004 G A 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:60:18:0:0:6,54:166,1784:11.10,0.00:0.96,0.00:10.14,0.00:0.82,0.00:0.75,0.00:0.98,0.00:60,60:114.3,60.9:0,0:0,0:104,112:46,37:22,16:chr2 g.92075712G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92075726 rs60166806 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=60;NP=887;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,G,T:50:12:0:0:32,11,7:974,351,228:0.00,29.68,18.08:0.00,7.19,1.28:0.00,22.49,16.79:0.00,1.00,0.00:0.00,0.91,0.00:0.00,1.00,0.00:60,41,41:15.7,122.5,123.0:0,0,0:0,0,0:116,125,110:34,23,41:16,4,12:-,chr2 g.92075725A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080157 rs76940007 G C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=12;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:6:6:0:0:3,3:101,105:9.72,0.00:9.72,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:52,50:176.3,23.7:0,0:0,0:10,59:141,92:5,12:chr2 g.92080156G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080165 rs113310799 TA T 8 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:TA,T:9:9:0:3:6,3:168,90:0.00,7.95:0.00,7.95:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:51,52:23.2,176.3:0,0:0,0:9,18:141,133:7,5:-,chr2 g.92080166delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080191 rs76387321 G T 30 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:22:0:0:12,10:366,315:0.00,29.70:0.00,29.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:51,52:34.7,187.7:0,0:0,0:22,8:129,141:10,3:-,chr2 g.92080190G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080206 rs77030914 C T 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=13;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:13,11:391,365:0.00,34.58:0.00,34.58:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:51,52:37.3,189.3:0,0:0,0:32,23:119,127:12,4:-,chr2 g.92080205C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080215 rs62151912 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=272;PC=0.369 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:28:0:0:9,19:292,598:25.87,0.00:25.87,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:51,52:68.1,127.4:0,0:0,0:35,33:116,117:16,19:chr2 g.92080214T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080224 rs79369295 C G 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=19;PC=0.089 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:29:29:0:0:16,13:516,434:0.00,40.93:0.00,40.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:51,52:45.6,184.2:0,0:0,0:45,41:106,109:17,11:-,chr2 g.92080223C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080237 rs72938049 A G 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=60 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:35:0:0:20,15:623,503:0.00,47.06:0.00,47.06:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:55,52:55.0,179.5:0,0:0,0:50,53:99,98:25,22:-,chr2 g.92080236A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080257 rs62151913 T A 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=349;NP=66;PC=0.601 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:49:49:0:0:14,4,31:469,131,1055:41.43,9.52,0.00:41.43,9.52,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:51,51,55:93.7,78.2,116.5:0,0,0:0,0,0:21,45,51:130,102,99:11,5,37:chr2 g.92080256T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080283 rs79677867 T G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:65:65:0:0:18,47:562,1463:48.14,0.00:48.14,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:52,55:174.4,72.7:0,0:0,0:44,46:104,105:29,34:chr2 g.92080282T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080314 rs4080262 C A 65 nt VT=SNV;PN=A;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=130 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:77:76:0:0:24,53:745,1703:65.20,0.00:65.53,0.00:-0.32,0.00:1.00,0.00:1.00,0.00:0.70,0.00:52,55:169.3,65.8:0,0:0,0:75,51:73,100:31,31:chr2 g.92080313C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080343 rs140482064 G T 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.5218,T/0.4782;NP=36;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:79:73:0:0:1,54,24:31,1733,690:1.39,0.00,59.52:1.42,0.00,47.42:-0.03,0.00,12.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:25,53,52:160.0,69.1,142.5:0,0,0:0,0,0:6,60,75:144,91,76:0,27,29:-,chr2 g.92080342G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080359 rs62151914 T C 109 nt VT=SNV;PN=A;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=NA;NP=960;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:92:81:0:0:36,56:1182,1741:108.64,0.00:87.64,0.00:21.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,55:128.7,71.4:0,0:0,0:58,51:92,100:32,36:chr2 g.92080358T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080361 rs144616959 T G 82 nt VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.5361,G/0.4639;NP=33;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:92:81:0:0:29,63:933,1981:82.26,0.00:61.99,0.00:20.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,53:132.9,75.3:0,0:0,0:80,58:71,93:40,33:chr2 g.92080360T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080363 rs146803324 T C 107 nt VT=SNV;PN=G;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=956 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:94:83:0:0:35,59:1177,1824:107.44,0.00:84.87,0.00:22.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,55:123.3,71.5:0,0:0,0:63,46:87,104:36,36:chr2 g.92080362T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080389 rs138146974 A G 79 nt VT=SNV;PN=T;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=262;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:85:0:0:75,29:2313,922:0.00,79.34:0.00,59.70:0.00,19.63:0.00,1.00:0.00,1.00:0.00,1.00:53,51:65.2,124.3:0,0:0,0:57,64:94,87:32,37:-,chr2 g.92080388A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080441 rs200384487 G T 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;NP=7;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:123:80:0:0:79,44:2610,1415:0.00,127.68:0.00,56.92:0.00,70.76:0.00,1.00:0.00,1.00:0.00,1.00:42,40:33.6,176.1:0,0:0,0:68,66:75,83:29,38:-,chr2 g.92080440G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080448 rs201162887 A G 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=7;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:125:79:0:0:79,45,1:2437,1427,7:0.00,128.90,-0.24:0.00,51.28,-0.17:0.00,77.62,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,40,40:33.1,175.8,96.0:0,0,0:0,0,0:75,67,83:68,82,68:29,38,0:-,chr2 g.92080447A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080473 rs199650046 T C 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:122:72:0:0:42,80:1264,2566:112.32,0.00:43.88,0.00:68.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:177.2,31.7:0,0:0,0:77,92:73,56:33,29:chr2 g.92080472T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080495 rs138699481 T G 111 nt VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=162 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:117:69:0:0:23,38,56:739,1210,1811:63.31,111.02,0.00:39.97,46.81,0.00:23.34,64.21,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,42:71.4,176.6,8.2:0,0,0:0,0,0:91,91,90:60,60,54:43,28,32:chr2 g.92080494T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080496 . G A 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=116;NP=37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G:116:69:0:0:9,107:299,3417:20.46,0.00:11.92,0.00:8.55,0.00:0.95,0.00:0.98,0.00:0.98,0.00:40,42:98.1,71.3:0,0:0,0:59,92:90,53:54,31:chr2 g.92080495G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080521 rs6761348 A G 109 nt VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=62;PC=0.851 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:113:60:0:0:74,39:2411,1225:0.00,109.46:0.00,45.37:0.00,64.09:0.00,1.00:0.00,1.00:0.00,1.00:42,42:17.0,146.1:0,0:0,0:94,80:53,71:37,43:-,chr2 g.92080520A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080527 rs75302447 A G 104 nt VT=SNV;PN=T;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=82;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:115:60:0:0:75,40:2495,1173:0.00,104.06:0.00,47.44:0.00,56.61:0.00,1.00:0.00,1.00:0.00,1.00:42,42:16.1,148.2:0,0:0,0:77,88:69,62:44,40:-,chr2 g.92080526A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080656 rs149545478 T C 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=516;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:16:0:0:28,60:910,1896:80.47,0.00:10.13,0.00:70.33,0.00:1.00,0.00:0.99,0.00:1.00,0.00:43,51:55.6,39.2:0,0:0,0:90,106:59,43:29,29:chr2 g.92080655T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080681 . A C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=72;NP=140;PC=0.856 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,C:72:3:0:0:66,6:2086,198:0.00,13.70:0.00,-0.08:0.00,13.78:0.00,0.79:0.00,0.29:0.00,0.99:55,40:51.2,70.5:0,0:0,0:98,122:52,27:33,21:-,chr2 g.92080680A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080686 rs146723204 C G 94 nt VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=408;PC=0.609 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:65:0:0:0:35,30:1177,991:0.00,93.92:0.00,0.00:0.00,93.92:0.00,1.00:0.00,0.00:0.00,1.00:55,51:42.5,72.9:0,0:0,0:104,94:46,56:27,38:-,chr2 g.92080685C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080717 rs79275084 T C 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=111;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:1:0:0:21,21:694,653:66.77,0.00:-0.30,0.00:67.07,0.00:1.00,0.00:0.67,0.00:1.00,0.00:51,55:93.0,50.0:0,0:0,0:95,112:55,39:24,17:chr2 g.92080716T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080742 rs62151915 C A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:31:1:0:0:10,21:309,694:27.21,0.00:3.29,0.00:23.93,0.00:1.00,0.00:0.55,0.00:1.00,0.00:43,55:76.4,79.0:0,0:0,0:128,119:22,32:21,17:chr2 g.92080741C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92080774 rs77163693 G T 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=18;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G,T:14:1:0:0:1,4,9:10,140,258:0.33,0.00,26.54:0.45,0.00,0.00:-0.13,0.00,26.54:0.00,0.00,1.00:0.00,0.00,0.76:0.00,0.00,1.00:23,55,42:128.0,59.2,114.2:0,0,0:0,0,0:74,131,128:77,18,23:0,5,20:-,chr2 g.92080773G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92080814 rs62151917 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=235;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:8:2:0:0:5,3:118,86:11.82,0.00:0.91,0.00:10.91,0.00:0.97,0.00:0.88,0.00:1.00,0.00:40,60:128.6,19.7:0,0:0,0:135,18:15,130:13,9:chr2 g.92080813G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92101705 rs62153099 G A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=73;PC=0.241 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:6:5:0:0:4,2:127,68:12.95,0.00:9.85,0.00:3.10,0.00:0.93,0.00:0.99,0.00:0.78,0.00:48,50:77.5,55.5:0,0:0,0:28,31:122,119:22,13:chr2 g.92101704G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92101799 rs11889629 C A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=223;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,C:6:5:0:0:3,3:99,96:9.53,0.00:6.05,0.00:3.48,0.00:0.98,0.00:0.96,0.00:0.67,0.00:42,50:92.0,37.0:0,0:0,0:103,112:48,39:6,26:chr2 g.92101798C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92101901 rs28496212 A G 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7981,G/.,T/0.2019;NP=490;NP=88;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:7:7:0:0:3,4:99,137:0.00,13.53:0.00,13.53:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:50,40:0.0,37.2:0,0:0,0:47,24:103,126:27,8:-,chr2 g.92101900A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92101935 rs56751454 CT C 24 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=641;PC=0.118;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:15:15:0:8:7,8:237,246:0.00,23.91:0.00,23.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:8.9,19.8:0,0:0,0:10,31:140,120:10,20:-,chr2 g.92101936delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92102168 rs4927413 C T 163 nt VT=SNV;PN=T;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=3341;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:60:0:0:47,53:1517,1676:0.00,162.82:0.00,68.09:0.00,94.73:0.00,1.00:0.00,1.00:0.00,1.00:60,51:15.1,62.8:0,0:0,0:72,94:78,55:38,24:-,chr2 g.92102167C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92102211 rs3968138 A G 138 nt VT=SNV;PN=G;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=3061;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:37:0:0:39,45:1253,1414:0.00,137.58:0.00,36.41:0.00,101.17:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.3,92.1:0,0:0,0:70,101:81,47:30,30:-,chr2 g.92102210A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92102248 rs56299025 C T 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=457;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:17:0:0:41,29:1301,926:0.00,85.84:0.00,4.25:0.00,81.59:0.00,1.00:0.00,1.00:0.00,1.00:60,42:15.8,106.1:0,0:0,0:105,91:46,59:30,40:-,chr2 g.92102247C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92102254 rs60312573 G GA 62 nt VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;PC=0.983;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GA:63:15:27:0:35,1,27:1151,9,680:0.00,-0.13,62.00:0.00,-0.06,5.60:0.00,-0.07,56.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,40:22.7,61.0,99.6:0,1,0:0,0,0:111,27,81:40,124,70:24,0,24:-,chr2 g.92102254_92102255insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92102281 rs4927412 C A 68 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:56:13:0:0:24,32:728,1049:67.60,0.00:1.11,0.00:66.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:102.5,15.8:0,0:0,0:96,107:54,43:19,31:chr2 g.92102280C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92102396 rs3968139 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9988,T/0.001198;NP=122 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,G,T:17:0:0:0:11,1,5:364,10,165:0.00,0.11,14.56:0.00,0.00,0.00:0.00,0.11,14.56:0.00,0.00,0.88:0.00,0.00,0.00:0.00,0.00,0.88:60,42,40:5.7,39.0,76.4:0,0,0:0,0,0:109,110,121:41,40,26:16,0,14:-,chr2 g.92102395C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92102435 rs4927411 G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:10:0:0:0:3,7:96,226:8.38,0.00:0.00,0.00:8.38,0.00:0.95,0.00:0.00,0.00:0.95,0.00:42,60:79.3,9.0:0,0:0,0:125,115:25,35:24,27:chr2 g.92102434G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119383 rs28561611 T C 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:9:9:0:0:4,5:130,172:12.22,0.00:12.22,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:40,60:144.2,8.2:0,0:0,0:16,20:134,131:4,20:chr2 g.92119382T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119401 rs7598817 C A 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:20:20:0:0:10,10:319,304:30.65,0.00:30.65,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,57:115.3,68.3:0,0:0,0:9,9:141,137:9,6:chr2 g.92119400C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119422 rs28510379 A G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:32:32:0:0:25,7:801,215:0.00,17.54:0.00,17.54:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,42:61.9,173.1:0,0:0,0:22,27:129,124:12,3:-,chr2 g.92119421A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119432 rs75316624 T C 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=917;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:34:0:0:19,15:631,486:62.01,0.00:62.01,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,57:82.2,84.1:0,0:0,0:31,37:120,114:10,12:chr2 g.92119431T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119442 . A G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:A,G:39:39:0:0:31,8:1036,228:0.00,18.03:0.00,18.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,42:54.4,176.4:0,0:0,0:41,43:110,107:18,7:-,chr2 g.92119441A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119446 . A G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,G:39:39:0:0:31,8:1034,219:0.00,17.15:0.00,17.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,42:54.4,176.4:0,0:0,0:45,47:106,103:18,7:-,chr2 g.92119445A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119450 . G A 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:A,G:41:41:0:0:4,37:108,1194:7.07,0.00:7.07,0.00:0.00,0.00:0.58,0.00:0.58,0.00:0.00,0.00:56,60:97.8,75.9:0,0:0,0:33,49:118,102:14,14:chr2 g.92119449G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119461 . C T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:48:0:0:38,10:1194,306:0.00,24.71:0.00,24.76:0.00,-0.05:0.00,0.99:0.00,0.99:0.00,0.47:57,60:45.5,172.2:0,0:0,0:49,62:101,88:21,7:-,chr2 g.92119460C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119485 rs199882231 T G 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=245;PC=0.093 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:66:63:0:0:17,49:445,1444:36.27,0.00:32.48,0.00:3.79,0.00:1.00,0.00:1.00,0.00:0.96,0.00:43,60:130.7,37.4:0,0:0,0:52,35:98,102:32,30:chr2 g.92119484T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119518 rs148331796 A G 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=3331;PC=0.047 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:90:0:0:73,24:2221,770:0.00,64.92:0.00,50.65:0.00,14.27:0.00,1.00:0.00,1.00:0.00,1.00:60,43:26.0,89.9:0,0:0,0:52,32:99,116:32,21:-,chr2 g.92119517A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119526 rs146634276 TG T 55 nt VT=DEL;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=3033;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:103:94:0:26:77,26:2417,682:0.00,55.35:0.00,45.00:0.00,10.35:0.00,1.00:0.00,1.00:0.00,1.00:60,43:24.5,85.5:0,0:0,0:45,26:102,114:24,15:-,chr2 g.92119527delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119644 rs201917507 C T 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=2972;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:97:50:0:0:71,26:2378,779:0.00,65.81:0.00,24.11:0.00,41.71:0.00,1.00:0.00,1.00:0.00,1.00:43,40:38.6,77.0:0,0:0,0:86,99:64,52:37,33:-,chr2 g.92119643C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119657 rs7604301 A G 156 nt VT=SNV;PN=A;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=1940;NP=4;PC=0.206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:90:41:0:0:42,48:1335,1597:0.00,155.60:0.00,45.78:0.00,109.83:0.00,1.00:0.00,1.00:0.00,1.00:40,42:44.5,61.2:0,0:0,0:94,72:57,78:34,44:-,chr2 g.92119656A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119689 rs7588682 G T 139 nt VT=SNV;PN=T;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=1368 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:84:24:0:0:40,44:1307,1428:0.00,138.54:0.00,29.81:0.00,108.73:0.00,1.00:0.00,1.00:0.00,1.00:40,40:52.2,65.7:0,0:0,0:100,84:50,66:28,28:-,chr2 g.92119688G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119694 rs28610314 T C 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=2176;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:23:0:0:20,64:640,2040:53.53,0.00:6.37,0.00:47.16,0.00:1.00,0.00:0.99,0.00:1.00,0.00:40,40:100.0,45.5:0,0:0,0:109,79:42,67:29,29:chr2 g.92119693T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119733 rs200528301 A T 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=838;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:78:14:0:0:63,15:1931,424:0.00,33.04:0.00,2.13:0.00,30.90:0.00,1.00:0.00,0.91:0.00,1.00:40,40:44.0,124.4:0,0:0,0:92,105:59,46:27,41:-,chr2 g.92119732A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119751 rs201390937 G C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=570;PC=0.032 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:65:9:0:0:11,54:343,1770:26.74,0.00:2.42,0.00:24.32,0.00:0.99,0.00:0.76,0.00:1.00,0.00:40,40:132.5,41.3:0,0:0,0:97,96:52,53:30,27:chr2 g.92119750G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119801 rs199599240 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.9978,A/0.002196;NP=173;PC=0.050 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:39:2:0:0:7,32:219,1072:17.27,0.00:-0.17,0.00:17.44,0.00:0.94,0.00:0.44,0.00:1.00,0.00:40,40:122.7,46.0:0,0:0,0:117,106:34,36:14,21:chr2 g.92119800G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119830 rs200306666 T C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=178;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:30:2:0:0:4,26:121,775:8.90,0.00:-0.12,0.00:9.03,0.00:0.64,0.00:0.37,0.00:0.94,0.00:40,40:120.5,51.2:0,9:0,0:137,126:14,20:7,16:chr2 g.92119829T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119833 . CATT C 17 nt VT=DEL;SST=Single;DP=28;NP=5;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:CATT,C:28:2:0:9:19,9:572,204:0.00,16.93:0.00,-0.34:0.00,17.26:0.00,0.99:0.00,0.62:0.00,1.00:40,40:36.8,116.2:0,0:0,0:135,100:5,50:6,15:-,chr2 g.92119834_92119836delATT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119842 . G C 30 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:0:0:0:9,9:314,277:30.28,0.00:0.00,0.00:30.28,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,40:116.2,24.7:9,0:0,0:106,141:44,10:15,9:chr2 g.92119841G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119843 . G A 26 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:9,8:271,254:26.27,0.00:0.00,0.00:26.27,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,40:116.2,27.8:9,0:0,0:107,119:43,29:15,26:chr2 g.92119842G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92119895 rs7599390 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:9:0:0:0:6,3:167,103:0.00,9.24:0.00,0.00:0.00,9.24:0.00,0.64:0.00,0.00:0.00,0.64:55,25:15.2,170.3:0,0:0,0:86,128:63,23:47,9:-,chr2 g.92119894C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92119907 . A T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,T:7:0:0:0:4,3:110,97:0.00,9.07:0.00,0.00:0.00,9.07:0.00,0.69:0.00,0.00:0.00,0.69:55,25:5.8,170.3:0,0:0,0:76,140:74,11:22,9:-,chr2 g.92119906A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92121184 rs9326684 G A 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=129;PC=0.067 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:6:6:0:0:4,2:136,67:13.85,0.00:13.85,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:25,55:83.2,0.0:0,0:0,0:30,44:120,106:8,24:chr2 g.92121183G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92121198 rs80100748 G A 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=139;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:7:7:0:0:3,4:102,130:9.56,0.00:7.80,0.00:1.75,0.00:0.69,0.00:0.69,0.00:0.62,0.00:25,60:90.7,15.2:0,0:0,0:44,39:107,111:16,21:chr2 g.92121197G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92121222 rs112052407 CA C 7 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=484;PC=0.049;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:CA,C:8:7:0:3:5,3:151,74:0.00,6.53:0.00,5.66:0.00,0.87:0.00,0.67:0.00,0.95:0.00,0.85:60,25:50.6,90.7:0,0:0,0:58,68:92,83:33,16:-,chr2 g.92121223delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92121300 rs9285858 C T 11 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=7;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,T:18:14:0:0:14,4:459,130:0.00,10.77:0.00,5.28:0.00,5.49:0.00,0.73:0.00,0.94:0.00,0.93:60,52:56.9,80.8:5,4:0,0:69,44:68,76:40,29:-,chr2 g.92121299C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92121303 rs370652820 T TAC 8 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.003;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:T,TAC,D:15:15:3:7:9,3,3:262,97,148:0.00,8.06,6.77:0.00,2.70,3.00:0.00,5.36,3.77:0.00,0.51,0.00:0.00,0.86,0.00:0.00,0.85,0.00:60,52,60:64.0,36.7,153.3:0,0,4:0,0,0:67,75,46:38,67,86:45,2,31:-,chr2 g.92121303_92121304insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92121360 rs200833761 A T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=243;PC=0.075 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,T:15:8:0:0:10,5:326,166:0.00,14.84:0.00,6.16:0.00,8.68:0.00,0.89:0.00,0.94:0.00,0.99:60,56:44.8,126.8:0,0:0,0:127,82:11,69:15,17:-,chr2 g.92121359A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92121387 . T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;NP=10;PC=0.432 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:C,T:11:5:0:0:5,6:174,173:16.50,0.00:6.73,0.00:9.77,0.00:0.93,0.00:0.95,0.00:0.99,0.00:56,60:140.2,21.5:0,0:0,0:109,100:42,9:12,4:chr2 g.92121386T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92121402 rs12162300 T A 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,T:7:4:0:0:5,2:165,66:17.07,0.00:7.14,0.00:9.93,0.00:0.98,0.00:0.99,0.00:1.00,0.00:56,60:132.2,33.5:0,0:0,0:124,111:27,37:12,3:chr2 g.92121401T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92121422 rs9285859 T A 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5;PC=0.038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,T:6:2:0:0:5,1:162,32:17.41,0.00:3.31,0.00:14.10,0.00:0.99,0.00:0.98,0.00:1.00,0.00:49,60:133.4,0.0:0,0:0,0:128,134:23,12:16,0:chr2 g.92121421T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92129006 rs28415795 T C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3259;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:231:26.44:24.40:2.04:1.00:1.00:1.00:51:45.9:0:0:51:100:34:NR_027714.1(ACTR3BP2) n.-153T>C,NR_027714.1(ACTR3BP2) n.-153T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92150362 rs55887807 G C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=141;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:36:29:0:0:9,27:312,916:26.71,0.00:15.97,0.00:10.74,0.00:0.99,0.00:1.00,0.00:0.98,0.00:42,60:72.6,10.3:0,0:0,0:27,72:124,76:11,30:chr2 g.92150361G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92150470 rs7424063 G A 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=175 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:8:0:0:11,16:365,473:33.84,0.00:13.31,0.00:20.53,0.00:1.00,0.00:0.97,0.00:1.00,0.00:42,49:58.7,19.8:0,0:0,0:121,85:29,65:14,40:chr2 g.92150469G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92150540 . G T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:G,T:15:0:0:0:9,6:301,188:0.00,17.28:0.00,0.00:0.00,17.28:0.00,0.96:0.00,0.00:0.00,0.96:42,40:15.2,58.5:0,0:0,0:101,115:50,35:23,14:-,chr2 g.92150539G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92150575 rs7426159 A T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,T:11:0:0:0:8,3:217,92:0.00,7.84:0.00,0.00:0.00,7.84:0.00,0.60:0.00,0.00:0.00,0.60:42,40:28.9,61.3:0,0:0,0:127,26:22,123:14,16:-,chr2 g.92150574A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92150621 rs7426179 A G 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:6:0:0:0:3,3:97,92:0.00,8.82:0.00,0.00:0.00,8.82:0.00,0.98:0.00,0.00:0.00,0.98:55,40:0.0,61.3:0,0:0,0:107,72:43,77:18,16:-,chr2 g.92150620A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151462 rs79576078 C G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:22:22:0:0:19,3:635,102:0.00,7.83:0.00,7.83:0.00,0.00:0.00,0.48:0.00,0.48:0.00,0.00:60,43:44.3,185.7:0,0:0,0:45,46:104,104:18,18:-,chr2 g.92151461C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151486 rs76764043 C T 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=327;PC=0.043 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:12,13:406,391:0.00,37.75:0.00,36.16:0.00,1.59:0.00,1.00:0.00,1.00:0.00,0.81:60,43:7.0,129.6:0,0:0,0:72,57:78,94:33,13:-,chr2 g.92151485C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151492 rs79038696 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=346;PC=0.046 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:28:0:0:14,14:464,432:44.65,0.00:42.92,0.00:1.74,0.00:1.00,0.00:1.00,0.00:0.79,0.00:43,60:129.4,6.0:0,0:0,0:62,63:88,87:15,38:chr2 g.92151491T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92151504 rs79829562 A G 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1;PC=0.982 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:32:32:0:0:28,4:896,138:0.00,10.48:0.00,9.16:0.00,1.31:0.00,0.63:0.00,0.63:0.00,0.57:60,43:40.9,202.5:0,0:0,0:57,52:93,97:36,19:-,chr2 g.92151503A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151564 rs77348385 C G 60 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=44;PC=0.365 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:58:53:0:0:35,23:1072,663:0.00,60.33:0.00,59.03:0.00,1.30:0.00,1.00:0.00,1.00:0.00,1.00:60,43:1.7,126.8:0,0:0,0:50,66:94,85:22,34:-,chr2 g.92151563C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151590 rs76567020 T C 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=24;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:50:0:0:24,37:667,1242:60.26,0.00:48.99,0.00:11.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,60:143.1,3.1:0,0:0,0:55,58:95,83:31,25:chr2 g.92151589T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92151599 rs80200020 T C 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:62:48:0:0:1,23,38:10,641,1335:-0.12,57.39,0.00:0.01,42.92,0.00:-0.13,14.47,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,41,60:74.0,146.4,4.8:0,0,0:0,0,0:70,61,70:81,89,74:0,33,22:chr2 g.92151598T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92151667 rs202067044 A G 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=1281;PC=0.560 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:23:0:0:27,25:878,766:0.00,72.78:0.00,23.79:0.00,48.99:0.00,1.00:0.00,1.00:0.00,1.00:60,49:3.7,136.1:0,0:0,0:119,77:31,74:16,26:-,chr2 g.92151666A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151689 rs200097586 A T 75 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=346 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:48:10:0:0:24,24:776,778:0.00,74.77:0.00,13.70:0.00,61.07:0.00,1.00:0.00,0.95:0.00,1.00:60,49:3.5,135.9:0,0:0,0:123,89:28,62:18,23:-,chr2 g.92151688A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151724 rs200123780 A G 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=52;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:3:0:0:16,22:497,718:0.00,71.08:0.00,6.23:0.00,64.85:0.00,1.00:0.00,0.93:0.00,1.00:60,51:4.7,130.0:0,0:0,0:82,111:67,40:38,23:-,chr2 g.92151723A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92151761 rs79523605 G A 35 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2;PC=0.046 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:0:0:0:12,11:366,363:35.42,0.00:0.00,0.00:35.42,0.00:1.00,0.00:0.00,0.00:1.00,0.00:19,60:133.0,3.1:0,0:0,0:110,83:40,65:6,23:chr2 g.92151760G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162792 . C G 12 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;PC=0.915 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,G:41:39:0:0:36,5:1197,161:0.00,11.89:0.00,12.17:0.00,-0.28:0.00,0.76:0.00,0.97:0.00,0.60:60,40:9.2,267.4:0,0:0,0:30,6:119,143:21,1:-,chr2 g.92162791C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92162804 . G A 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;PC=0.976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:46:0:0:10,40:325,1135:26.42,0.00:27.19,0.00:-0.77,0.00:0.99,0.00:1.00,0.00:0.89,0.00:40,60:254.1,7.8:0,0:0,0:12,34:132,115:6,19:chr2 g.92162803G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162813 . C G 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=60;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:60:55:0:0:45,15:1394,497:0.00,42.22:0.00,40.01:0.00,2.21:0.00,1.00:0.00,1.00:0.00,0.97:60,48:8.3,254.8:0,0:0,0:40,19:110,130:21,8:-,chr2 g.92162812C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92162838 rs183818160 C A 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=0.317 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:84:77:0:0:27,56,1:928,1709,7:82.98,0.00,-0.24:66.77,0.00,-0.15:16.20,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,60,60:250.7,7.2,7.0:0,0,0:0,0,0:24,53,136:125,96,15:12,26,0:chr2 g.92162837C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162848 . A C 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=91;PC=0.243 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:91:83:0:0:60,31:1971,975:0.00,86.95:0.00,69.27:0.00,17.68:0.00,1.00:0.00,1.00:0.00,1.00:60,57:6.0,253.4:0,0:0,0:55,34:95,115:30,15:-,chr2 g.92162847A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92162874 . T C 126 nt VT=SNV;PN=G;NN=C;SST=Single;DP=105;PC=0.418 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:105:97:0:0:39,66:1373,1981:125.88,0.00:86.80,0.00:39.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:246.8,8.9:0,0:0,0:56,58:93,90:24,28:chr2 g.92162873T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162879 . G C 124 nt VT=SNV;PN=C;NN=C;SST=Single;DP=112;PC=0.241 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:112:102:0:0:41,71:1365,2319:124.16,0.00:77.71,0.00:46.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:239.8,13.0:0,0:0,0:47,57:101,92:20,33:chr2 g.92162878G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162913 rs201096142 G A 127 nt VT=SNV;PN=C;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.565 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:111:94:0:0:41,70:1387,2268:126.57,0.00:72.01,0.00:54.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:246.1,13.4:0,0:0,0:87,79:56,65:23,22:chr2 g.92162912G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162939 . C A 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=112;PC=0.973 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,C:112:78:0:0:11,101:384,3205:28.04,0.00:12.63,0.00:15.41,0.00:0.99,0.00:1.00,0.00:1.00,0.00:44,60:223.9,91.7:0,0:0,0:83,102:64,43:5,24:chr2 g.92162938C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162945 . G A 96 nt VT=SNV;PN=C;NN=C;SST=Single;DP=108;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:68:0:0:34,74:1089,2523:95.90,0.00:33.81,0.00:62.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:240.7,42.0:0,0:0,0:103,94:43,42:23,21:chr2 g.92162944G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92162947 rs150656578 A C 139 nt VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=1;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:109:67:0:0:62,47:2100,1493:0.00,139.36:0.00,51.74:0.00,87.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,235.9:0,0:0,0:103,99:37,41:23,26:-,chr2 g.92162946A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92162969 rs149662932 T G 114 nt VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:91:38:0:0:40,51:1225,1555:114.44,0.00:29.62,0.00:84.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:229.9,8.7:0,0:0,0:114,114:33,29:16,24:chr2 g.92162968T>G (intergenic),-:0.25,-:NOT_FOUND,- 2 92162972 rs148429039 G C 121 nt VT=SNV;PN=C;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:88:40:0:0:39,49:1288,1603:121.13,0.00:29.58,0.00:91.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:231.3,11.7:0,0:0,0:107,115:36,27:15,24:chr2 g.92162971G>C (intergenic),-:0.25,-:NOT_FOUND,- 2 92163020 rs373227812 C G 59 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.987 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:40:5:0:0:21,19:689,624:0.00,59.45:0.00,1.27:0.00,58.19:0.00,1.00:0.00,0.95:0.00,1.00:60,55:12.8,219.9:0,0:0,0:105,123:46,28:34,20:-,chr2 g.92163019C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92163025 . A G 51 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:4:0:0:21,17:676,545:0.00,51.27:0.00,1.33:0.00,49.94:0.00,1.00:0.00,0.91:0.00,1.00:60,55:14.3,225.0:0,0:0,0:102,122:48,29:36,24:-,chr2 g.92163024A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92163069 rs200774248 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:24:0:0:0:6,18:198,573:16.81,0.00:0.00,0.00:16.81,0.00:0.92,0.00:0.00,0.00:0.92,0.00:40,60:220.2,21.1:0,0:0,0:131,67:19,82:11,44:chr2 g.92163068G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92163073 . T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,T:23:0:0:0:6,17:174,578:14.53,0.00:0.00,0.00:14.53,0.00:0.92,0.00:0.00,0.00:0.92,0.00:40,60:220.2,22.4:0,0:0,0:135,69:15,82:11,44:chr2 g.92163072T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92262183 rs77796349 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:4:0:0:1,3:30,105:0.00,10.95:0.00,9.03:0.00,1.93:0.00,0.85:0.00,0.85:0.00,0.83:60,60:33.0,236.0:0,0:0,0:78,71:73,45:0,22:-,chr2 g.92262182C>T (intergenic):-,0.17:-,NOT_FOUND 2 92262190 rs76304343 C G 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:C,G:4:4:0:0:1,3:13,93:0.00,9.78:0.00,6.07:0.00,3.70:0.00,0.85:0.00,0.85:0.00,0.95:60,60:33.0,230.0:0,0:0,0:85,78:66,38:0,22:-,chr2 g.92262189C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92269131 rs62154159 G A 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=50;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:5:4:0:0:4,1:136,35:14.42,0.00:7.21,0.00:7.21,0.00:0.96,0.00:1.00,0.00:1.00,0.00:44,54:182.5,169.0:0,0:0,0:61,50:70,85:7,0:chr2 g.92269130G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92269144 rs62155160 A C 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=13;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C:5:4:0:0:3,2:100,69:0.00,6.39:0.00,5.00:0.00,1.40:0.00,0.46:0.00,0.87:0.00,0.87:60,21:144.7,193.0:0,0:0,0:84,51:44,79:6,20:-,chr2 g.92269143A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92269189 rs62155161 T C 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=45;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:2:0:0:2,2:67,66:6.45,0.00:1.54,0.00:4.91,0.00:0.51,0.00:0.79,0.00:0.89,0.00:54,17:189.0,176.5:0,0:0,0:112,102:17,39:4,26:chr2 g.92269188T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92269419 rs62155170 T C 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:C,T:14:8:0:0:12,2:297,45:32.86,0.00:22.02,0.00:10.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,16:247.2,130.5:0,0:0,0:26,67:120,81:5,53:chr2 g.92269418T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92269424 rs62155171 A G 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:19:10:0:0:2,17:63,427:0.00,47.81:0.00,26.43:0.00,21.38:0.00,1.00:0.00,1.00:0.00,1.00:9,59:156.0,242.7:0,0:0,0:77,26:58,120:48,7:-,chr2 g.92269423A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92269445 rs62155172 A G 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:A,G:24:12:0:2:1,23:32,522:0.00,61.00:0.00,29.81:0.00,31.19:0.00,1.00:0.00,1.00:0.00,1.00:9,59:86.0,247.7:0,0:0,0:146,24:4,99:0,16:chr2 g.92269444A>G (intergenic),chr2 g.92269444A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269454 rs62155173 A G 83 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:A,G,T:28:16:0:2:2,25,1:43,744,9:0.00,83.25,0.20:0.00,35.51,-0.02:0.00,47.75,0.22:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:45,59,29:221.5,247.2,231.0:0,0,0:0,0,0:59,30,43:88,95,97:3,15,0:chr2 g.92269453A>G (intergenic),chr2 g.92269453A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269459 rs11240913 A T 109 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.525,T/0.475;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:G,T:33:21:0:0:2,31:69,954:5.43,109.24:4.10,47.99:1.33,61.26:0.00,1.00:0.00,1.00:0.00,1.00:21,59:279.5,240.1:0,1:0,0:15,35:88,90:6,15:chr2 g.92269458A>T (intergenic),chr2 g.92269458A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269467 rs62155174 T C 122 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=182;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:60:A,C:35:22:0:0:1,34:34,1066:2.34,122.30:1.17,55.23:1.17,67.07:0.00,1.00:0.00,1.00:0.00,1.00:47,59:236.0,239.3:0,1:0,0:43,40:73,82:0,23:chr2 g.92269466T>C (intergenic),chr2 g.92269466T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269469 rs62155175 T G 94 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C,G,T:34:21:0:0:2,28,4:10,857,45:0.14,93.82,0.00:0.00,54.59,0.00:0.14,39.23,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:19,59,29:211.5,237.2,234.0:0,1,0:0,0,0:67,32,53:81,75,78:3,21,14:chr2 g.92269468T>G (intergenic),chr2 g.92269468T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269502 rs62155176 T C 141 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=771 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C,T:42:28:0:0:41,1:1238,13:141.33,0.00:61.51,0.00:79.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,14:234.0,186.0:0,0:0,0:63,104:42,47:23,0:chr2 g.92269501T>C (intergenic),chr2 g.92269501T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269519 rs4109155 G A 153 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=700 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,G:45:32:0:0:42,3:1375,94:152.74,0.00:65.13,0.00:87.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,55:235.3,246.3:0,0:0,0:68,121:32,30:17,5:chr2 g.92269518G>A (intergenic),chr2 g.92269518G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269529 rs74197792 G C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=1;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:C,G:54:41:0:0:4,50:140,1640:9.72,0.00:3.57,0.00:6.15,0.00:0.53,0.00:0.87,0.00:0.92,0.00:48,60:260.0,234.1:0,0:0,0:68,88:72,22:8,19:chr2 g.92269528G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92269544 rs3967947 T C 97 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:C,T:30:13:0:0:29,1:848,34:96.58,0.00:25.22,0.00:71.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,54:240.4,238.0:0,0:0,0:89,80:22,19:12,0:chr2 g.92269543T>C (intergenic),chr2 g.92269543T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269551 rs62155179 A G 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:36:A,G:27:15:0:0:1,26:34,824:0.00,92.76:0.00,24.26:0.00,68.50:0.00,1.00:0.00,1.00:0.00,1.00:16,60:299.0,247.9:0,0:0,0:113,92:4,41:0,6:chr2 g.92269550A>G (intergenic),chr2 g.92269550A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269555 rs74222508 G A 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:24:11:0:0:16,1,7:483,36,241:49.73,2.57,0.00:17.43,-0.01,0.00:32.30,2.58,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:58,40,60:261.6,260.0,235.1:0,0,0:0,0,0:94,95,100:38,46,36:9,0,10:chr2 g.92269554G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92269560 rs62155181 C T 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=36 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:C,T:21:6:0:0:1,20:10,662:0.00,74.23:0.00,8.56:0.00,65.67:0.00,1.00:0.00,1.00:0.00,1.00:26,60:239.0,256.2:0,0:0,0:107,101:34,35:0,9:chr2 g.92269559C>T (intergenic),chr2 g.92269559C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269580 rs62155182 T C 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,T:18:4:0:0:17,1:512,35:57.61,0.00:5.21,0.00:52.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,42:255.1,32.0:0,0:0,0:115,15:26,68:9,0:chr2 g.92269579T>C (intergenic),chr2 g.92269579T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92269603 rs62155183 T C 48 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=376 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:1:0:0:14:418:48.45:1.99:46.46:1.00:1.00:1.00:54:239.9:0:0:135:13:6:chr2 g.92269602T>C (intergenic),chr2 g.92269602T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280748 . G C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:165:18.88:11.43:7.45:1.00:1.00:1.00:49:261.4:0:0:25:74:11:chr2 g.92280747G>C (intergenic),chr2 g.92280747G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280758 . C A 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:167:19.08:11.18:7.90:1.00:1.00:1.00:49:262.6:0:0:35:64:11:chr2 g.92280757C>A (intergenic),chr2 g.92280757C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280759 . A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:174:19.78:11.78:8.00:1.00:1.00:1.00:49:263.4:0:0:36:63:11:chr2 g.92280758A>G (intergenic),chr2 g.92280758A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280763 rs192011856 C T 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:197:22.56:13.17:9.39:1.00:1.00:1.00:49:270.2:0:0:43:57:7:chr2 g.92280762C>T (intergenic),chr2 g.92280762C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280764 rs200617894 T A 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,G:7:7:0:0:6,1:210,10:23.46,0.67:11.73,0.67:11.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:47,49:270.8,245.0:0,0:0,0:35,47:56,71:11,0:chr2 g.92280763T>A (intergenic),chr2 g.92280763T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280785 rs62149170 T A 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:302:34.49:17.25:17.25:1.00:1.00:1.00:47:222.1:0:0:27:43:7:chr2 g.92280784T>A (intergenic),chr2 g.92280784T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280797 rs62149171 A G 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:348:39.57:19.78:19.78:1.00:1.00:1.00:47:231.2:0:0:50:31:16:chr2 g.92280796A>G (intergenic),chr2 g.92280796A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280818 rs62149172 T A 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:345:39.27:19.63:19.63:1.00:1.00:1.00:47:228.1:0:0:71:10:16:chr2 g.92280817T>A (intergenic),chr2 g.92280817T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280831 rs200972891 A C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,C:5:5:0:0:1,4:34,141:0.00,14.92:0.00,7.46:0.00,7.46:0.00,0.96:0.00,0.96:0.00,0.96:41,41:91.0,207.2:0,0:0,0:70,67:-3,23:0,1:-,chr2 g.92280830A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92280832 rs62149173 A T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:143:16.21:8.10:8.10:1.00:1.00:1.00:41:201.8:0:0:68:22:1:chr2 g.92280831A>T (intergenic),chr2 g.92280831A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92280848 rs62149174 T G 15 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:135:15.41:7.70:7.70:1.00:1.00:1.00:41:211.2:0:0:84:6:1:chr2 g.92280847T>G (intergenic),chr2 g.92280847T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281263 rs200417470 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:6:5:0:0:5,1:145,35:15.67,0.00:10.90,0.00:4.76,0.00:0.99,0.00:1.00,0.00:1.00,0.00:39,40:235.2,203.0:0,0:0,0:13,6:116,79:10,0:chr2 g.92281262G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92281273 rs201415348 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:10:8:0:0:8,2:216,69:23.16,0.00:13.72,0.00:9.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,40:219.8,181.0:0,0:0,0:18,19:97,89:12,3:chr2 g.92281272G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92281281 rs185752191 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,T:11:9:0:0:8,3:210,102:21.91,0.00:12.07,0.00:9.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,45:220.9,204.7:1,0:0,0:26,24:89,70:12,22:chr2 g.92281280T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92281291 rs62149175 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:0:C,G,T:14:11:0:0:12,1,1:412,32,32:45.27,2.50,0.00:26.32,0.00,0.00:18.96,2.50,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:56,4,2:225.8,172.0,296.0:0,0,0:0,0,0:31,54,34:79,68,88:13,0,0:chr2 g.92281290T>C (intergenic),chr2 g.92281290T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281326 rs551132393 G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9976,T/0.002396;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:23:19:0:0:5,18:168,593:13.96,0.00:5.42,0.00:8.54,0.00:0.84,0.00:0.97,0.00:0.98,0.00:45,60:258.6,194.6:0,0:0,0:47,57:49,55:22,20:chr2 g.92281325G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92281327 rs62149176 G T 86 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=365 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:19:0:0:23:753:86.27:39.06:47.21:1.00:1.00:1.00:60:208.0:0:0:50:52:20:chr2 g.92281326G>T (intergenic),chr2 g.92281326G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281333 rs62149177 G A 74 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=359 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A,G:22:18:0:0:21,1:659,33:74.06,0.00:33.17,0.00:40.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,24:215.8,67.0:0,0:0,0:64,30:46,5:18,0:chr2 g.92281332G>A (intergenic),chr2 g.92281332G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281342 . A C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C:22:18:0:0:18,4:584,128:0.00,10.18:0.00,4.07:0.00,6.11:0.00,0.70:0.00,0.94:0.00,0.95:60,45:197.8,268.5:0,0:0,0:73,61:41,35:22,11:-,chr2 g.92281341A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92281343 . T G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:G,T:21:17:0:0:4,17:115,547:8.98,0.00:4.01,0.00:4.98,0.00:0.70,0.00:0.94,0.00:0.95,0.00:45,60:272.8,197.6:0,0:0,0:62,74:34,44:12,21:chr2 g.92281342T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92281355 rs62149178 T C,G 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=398 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:65:C,G,T:21:17:0:0:17,3,1:530,102,34:58.77,9.03,0.00:29.40,3.00,0.00:29.37,6.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,45,17:200.9,279.7,266.0:0,0,0:0,0,0:78,98,52:32,20,59:18,18,0:chr2 g.92281354T>C (intergenic),chr2 g.92281354T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281359 . G C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,G:22:18:0:0:4,18:132,595:10.58,0.00:3.82,0.00:6.76,0.00:0.70,0.00:0.94,0.00:0.95,0.00:45,60:275.2,196.6:0,0:0,0:78,86:18,33:12,19:chr2 g.92281358G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92281383 rs62149179 C T 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=91 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:9:0:0:13:388:44.99:17.86:27.13:1.00:1.00:1.00:43:205.6:0:0:91:31:11:chr2 g.92281382C>T (intergenic),chr2 g.92281382C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281392 rs62149180 C G 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:8:0:0:12:373:42.99:16.05:26.94:1.00:1.00:1.00:44:211.7:0:0:99:26:8:chr2 g.92281391C>G (intergenic),chr2 g.92281391C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281414 rs200542616 A T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9994,T/0.000599;NP=1;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:5:0:0:7:201:23.39:10.07:13.32:1.00:1.00:1.00:44:218.3:0:0:116:14:6:chr2 g.92281413A>T (intergenic),chr2 g.92281413A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281415 rs201053341 C G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:177:20.55:10.68:9.87:1.00:1.00:1.00:44:208.5:0:0:120:13:4:chr2 g.92281414C>G (intergenic),chr2 g.92281414C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281459 rs62149182 G C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:144:16.31:8.15:8.15:1.00:1.00:1.00:49:146.0:0:0:13:70:11:chr2 g.92281458G>C (intergenic),chr2 g.92281458G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92281511 rs193199751 G C 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,G:4:4:0:0:3,1:108,34:11.25,0.00:5.63,0.00:5.63,0.00:0.85,0.00:0.85,0.00:0.85,0.00:49,4:137.7,169.0:0,0:0,0:56,75:20,17:3,0:chr2 g.92281510G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92281513 rs62149183 G T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=113 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:136:15.51:7.75:7.75:1.00:1.00:1.00:49:145.5:0:0:67:16:11:chr2 g.92281512G>T (intergenic),chr2 g.92281512G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92284320 rs62149231 G T 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:273:31.12:17.40:13.72:1.00:1.00:1.00:60:233.8:0:0:25:54:13:chr2 g.92284319G>T (intergenic),chr2 g.92284319G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92284329 rs74831168 C T 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:297:33.99:18.88:15.11:1.00:1.00:1.00:60:225.1:0:0:28:51:13:chr2 g.92284328C>T (intergenic),chr2 g.92284328C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92284335 rs77924249 A G 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:375:42.75:23.21:19.53:1.00:1.00:1.00:60:224.3:0:0:34:45:13:chr2 g.92284334A>G (intergenic),chr2 g.92284334A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92284337 rs78759933 T A 38 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.9982,A/.,C/0.001797 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:334:38.17:20.87:17.30:1.00:1.00:1.00:60:221.2:0:0:32:39:10:chr2 g.92284336T>A (intergenic),chr2 g.92284336T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92284363 rs62149233 G A 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9988,A/0.001198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:312:35.49:19.68:15.81:1.00:1.00:1.00:60:231.1:0:0:62:17:20:chr2 g.92284362G>A (intergenic),chr2 g.92284362G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92284373 rs80337837 T G 9 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:G,T:9:8:0:0:3,6:102,204:9.14,0.00:2.88,0.00:6.26,0.00:0.64,0.00:0.94,0.00:0.94,0.00:9,60:248.3,242.0:0,0:0,0:65,90:13,1:0,13:chr2 g.92284372T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92284377 rs113730526 A T 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,T:8:7:0:0:1,7:32,236:0.00,25.63:0.00,12.87:0.00,12.77:0.00,1.00:0.00,1.00:0.00,1.00:48,55:198.0,261.1:0,0:0,0:100,69:-19,13:0,7:-,chr2 g.92284376A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92284383 rs111580504 T C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:7:6:0:0:6,1:204,36:22.02,0.00:11.01,0.00:11.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,48:264.3,198.0:0,0:0,0:78,106:5,-25:16,0:chr2 g.92284382T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92284390 rs62149234 G A 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:133:15.21:7.80:7.40:1.00:1.00:1.00:55:282.8:0:0:102:-4:20:chr2 g.92284389G>A (intergenic),chr2 g.92284389G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92284392 rs62149235 A T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:131:15.01:9.39:5.62:1.00:1.00:1.00:60:284.5:0:0:101:-7:14:chr2 g.92284391A>T (intergenic),chr2 g.92284391A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290212 rs77867874 T G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:G,T:6:6:0:0:3,3:89,52:8.56,0.00:8.71,0.00:-0.15,0.00:0.98,0.00:0.98,0.00:0.67,0.00:25,25:244.0,208.0:0,0:0,0:70,60:59,53:3,18:chr2 g.92290211T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290225 rs62147807 G C 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,G:6:6:0:0:5,1:153,9:16.56,0.00:14.56,0.00:2.00,0.00:0.99,0.00:0.99,0.00:0.89,0.00:25,17:235.4,173.0:0,0:0,0:83,73:46,40:22,0:chr2 g.92290224G>C (intergenic),chr2 g.92290224G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290229 rs74785917 T C 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C,T:6:6:0:0:1,2,3:10,70,88:0.49,6.47,0.00:0.53,6.56,0.00:-0.04,-0.09,0.00:0.00,0.42,0.00:0.00,0.42,0.00:0.00,0.56,0.00:17,25,25:173.0,247.0,229.7:0,0,0:0,0,0:77,88,59:36,39,56:0,1,2:chr2 g.92290228T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290234 rs79715970 A G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,G:6:6:0:0:1,5:30,145:0.00,15.67:0.00,13.72:0.00,1.95:0.00,0.99:0.00,0.99:0.00,0.89:17,25:173.0,236.6:0,0:0,0:82,92:31,37:0,22:-,chr2 g.92290233A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290257 rs77251684 A C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,C:6:6:0:0:1,5:10,147:0.00,15.96:0.00,13.96:0.00,2.00:0.00,0.99:0.00,0.99:0.00,0.89:17,25:173.0,236.6:0,0:0,0:105,115:8,14:0,22:chr2 g.92290256A>C (intergenic),chr2 g.92290256A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290278 rs62147808 T A 18 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9884,A/0.01158;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:159:18.28:16.29:1.99:1.00:1.00:1.00:25:235.2:0:0:126:-7:13:chr2 g.92290277T>A (intergenic),chr2 g.92290277T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290553 rs11490023 T C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=336 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:3:0:0:3,1:80,35:8.45,0.00:4.02,0.00:4.43,0.00:0.85,0.00:0.99,0.00:0.99,0.00:33,60:209.0,243.0:0,0:0,0:41,27:85,80:2,0:chr2 g.92290552T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290572 rs76063224 A G 8 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,G:4:2:0:0:1,3:10,78:0.00,8.28:0.00,1.37:0.00,6.91:0.00,0.85:0.00,0.95:0.00,0.99:24,60:180.0,252.7:0,0:0,0:60,46:82,66:0,12:-,chr2 g.92290571A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290594 rs62147838 G A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:110:12.87:5.82:7.06:1.00:1.00:1.00:60:234.5:0:0:74:52:7:chr2 g.92290593G>A (intergenic),chr2 g.92290593G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290599 rs7369426 A C,T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.001198,C/0.9988,T/.;NP=25;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,C,T:4:2:0:0:1,2,1:8,68,11:0.00,6.88,0.86:0.00,1.89,0.98:0.00,4.99,-0.12:0.00,0.51,0.00:0.00,0.79,0.00:0.00,0.89,0.00:1,60,24:266.0,246.0,180.0:0,0,0:0,0,0:51,79,87:82,36,55:0,6,0:chr2 g.92290598A>C (intergenic),chr2 g.92290598A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290626 rs74696053 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:23:18:0:0:4,19:117,591:9.01,0.00:6.33,0.00:2.68,0.00:0.69,0.00:0.93,0.00:0.80,0.00:40,60:248.5,222.2:0,0:0,0:24,47:100,61:12,9:chr2 g.92290625T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290629 rs74348282 T A 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,T:23:17:0:0:16,7:520,165:53.53,0.00:38.47,0.00:15.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:220.6,239.1:0,0:0,0:50,21:58,90:9,10:chr2 g.92290628T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290635 rs77128031 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G:26:19:0:0:4,22:116,676:8.67,0.00:6.41,0.00:2.27,0.00:0.67,0.00:0.91,0.00:0.82,0.00:40,60:248.5,231.5:0,0:0,0:33,56:91,52:12,16:chr2 g.92290634G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290637 rs370900222 G T 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,T:26:19:0:0:23,3:726,100:0.00,7.40:0.00,3.55:0.00,3.86:0.00,0.45:0.00,0.82:0.00,0.71:60,40:231.0,247.3:0,0:0,0:58,27:50,121:14,2:-,chr2 g.92290636G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290639 rs374325050 A G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.999,G/0.0009984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,G:26:21:0:0:22,4:643,120:0.00,9.09:0.00,5.31:0.00,3.78:0.00,0.67:0.00,0.93:0.00,0.80:60,40:220.7,253.0:0,0:0,0:59,19:48,105:13,11:-,chr2 g.92290638A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290649 rs62147839 C G 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:20:0:0:8,17:275,552:0.00,56.46:0.00,39.47:0.00,16.99:0.00,1.00:0.00,1.00:0.00,1.00:60,40:219.1,223.6:0,0:0,0:28,70:95,38:11,9:-,chr2 g.92290648C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290654 rs199946882 T C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:25:20:0:0:5,20:162,608:13.16,0.00:9.42,0.00:3.74,0.00:0.83,0.00:0.71,0.00:0.89,0.00:24,60:254.4,217.1:0,0:0,0:44,70:52,38:13,16:chr2 g.92290653T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290656 rs200911823 C A,G 67 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:41:A,C,G:24:19:0:0:3,1,20:86,34,600:7.27,0.00,67.12:4.40,0.00,43.16:2.87,0.00,23.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:17,60,40:247.3,0.0,230.6:0,0,0:0,0,0:38,18,76:63,133,31:5,0,15:chr2 g.92290655C>A (intergenic),chr2 g.92290655C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290660 rs113491613 A C 79 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:A,C,G:26:21:0:0:1,24,1:34,698,8:0.00,79.19,0.18:0.00,49.36,0.18:0.00,29.82,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,43,35:0.0,236.9,181.0:0,0,0:0,0,0:22,72,72:129,45,36:0,21,0:chr2 g.92290659A>C (intergenic),chr2 g.92290659A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290662 rs62147840 T C 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5917,C/0.4083 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:21:0:0:15,11:456,328:45.04,0.00:31.13,0.00:13.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:227.4,215.0:0,0:0,0:83,44:25,68:9,10:chr2 g.92290661T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290688 . A T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,C,T:41:32:0:0:35,2,4:1153,66,137:0.00,4.17,10.01:0.00,3.22,3.42:0.00,0.95,6.59:0.00,0.00,0.58:0.00,0.00,0.89:0.00,0.00,0.81:60,35,40:219.4,230.0,276.8:0,0,0:0,0,0:70,100,58:58,12,54:38,0,37:-,chr2 g.92290687A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290691 rs111687746 C G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,G,T:39:30:0:0:34,4,1:1130,117,10:0.00,8.13,-0.16:0.00,4.14,-0.25:0.00,4.00,0.08:0.00,0.59,0.00:0.00,0.89,0.00:0.00,0.80,0.00:60,40,1:218.6,237.5,240.0:0,0,0:0,0,0:71,56,81:57,48,70:41,16,0:-,chr2 g.92290690C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290696 rs202119630 T C 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,C,T:42:31:0:0:1,4,37:11,116,1189:-0.13,7.87,0.00:-0.24,4.12,0.00:0.10,3.75,0.00:0.00,0.58,0.00:0.00,0.88,0.00:0.00,0.80,0.00:1,40,60:240.0,237.5,219.2:0,0,0:0,0,0:86,61,73:65,43,55:0,16,44:chr2 g.92290695T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290697 rs79655265 G C 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:47:35:0:0:19,27,1:607,870,11:56.20,0.00,-0.02:39.46,0.00,0.11:16.74,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,60,40:234.7,225.3,227.0:0,0,0:0,0,0:118,38,89:-10,89,61:9,21,0:chr2 g.92290696G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290698 rs143251937 T C 12 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:C,T:44:33:0:0:5,39:166,1212:12.23,0.00:5.90,0.00:6.32,0.00:0.75,0.00:0.94,0.00:0.88,0.00:18,60:237.2,224.2:0,0:0,0:47,68:48,53:34,42:chr2 g.92290697T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290713 rs75940145 C G 103 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=76 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:C,G,T:32:23:0:0:1,30,1:36,913,31:0.00,103.44,2.06:0.00,53.14,-0.01:0.00,50.30,2.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,40,29:0.0,236.4,297.0:0,0,0:0,0,0:75,55,98:76,62,24:0,22,0:chr2 g.92290712C>G (intergenic),chr2 g.92290712C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290714 rs200279765 A C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:23:0:0:21,11:614,371:0.00,33.43:0.00,22.46:0.00,10.97:0.00,1.00:0.00,1.00:0.00,1.00:60,40:233.9,224.4:0,0:0,0:76,42:38,90:28,18:-,chr2 g.92290713A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290720 rs62147841 A G 89 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=61 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,G,T:29:20:0:1:3,25,1:75,810,18:0.00,88.84,0.82:0.00,38.55,0.82:0.00,50.29,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,40,40:154.3,237.4,219.0:0,1,0:0,0,0:104,54,24:47,65,127:8,15,0:-,chr2 g.92290719A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290726 rs62147842 A C 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:30:21:0:0:19,10,1:621,323,10:0.00,28.93,-0.01:0.00,13.08,-0.15:0.00,15.85,0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,43,1:215.3,258.6,240.0:0,0,0:0,0,0:54,81,116:79,24,35:17,26,0:-,chr2 g.92290725A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290728 . T G 7 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:G,T:30:21:0:0:3,27:95,796:6.70,0.00:3.33,0.00:3.37,0.00:0.43,0.00:0.79,0.00:0.78,0.00:18,60:247.7,226.1:0,0:0,0:43,63:108,58:1,21:chr2 g.92290727T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290759 rs374849221 T C 8 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:23:14:0:0:3,20:105,597:8.07,0.00:4.04,0.00:4.03,0.00:0.47,0.00:0.78,0.00:0.78,0.00:18,60:256.7,224.6:0,0:0,0:73,93:78,45:1,18:chr2 g.92290758T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290769 rs200868265 G A,T 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=29;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:A,G,T:21:10:0:0:8,1,12:232,34,376:23.44,0.00,40.04:4.39,0.00,18.53:19.05,0.00,21.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,40:252.5,0.0,229.7:0,0,0:0,0,0:83,131,107:67,20,29:8,0,14:chr2 g.92290768G>A (intergenic),chr2 g.92290768G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290771 rs201684348 C A 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=46 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A,C:21:10:0:0:20,1:637,33:71.44,0.00:28.63,0.00:42.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:239.3,0.0:0,0:0,0:91,133:54,18:16,0:chr2 g.92290770C>A (intergenic),chr2 g.92290770C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290788 rs199634600 C G 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:C,G:22:11:0:0:6,16:206,498:0.00,51.77:0.00,25.50:0.00,26.27:0.00,1.00:0.00,1.00:0.00,1.00:60,40:164.8,240.5:0,0:0,0:102,113:45,32:15,19:-,chr2 g.92290787C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290801 rs181484240 T A 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:21:10:0:0:14,7:392,223:40.03,0.00:20.49,0.00:19.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:235.6,194.0:0,0:0,0:126,92:19,36:17,24:chr2 g.92290800T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290820 rs186220456 G A 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:15:5:0:0:9,6:272,162:27.11,0.00:8.44,0.00:18.67,0.00:1.00,0.00:0.78,0.00:1.00,0.00:40,50:259.6,180.5:0,0:0,0:127,86:14,20:10,48:chr2 g.92290819G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290838 rs200141236 T C 8 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:6:1:0:0:3,3:82,73:7.86,0.00:2.58,0.00:5.28,0.00:0.98,0.00:0.67,0.00:0.96,0.00:40,50:265.0,158.0:0,0:0,0:142,44:9,86:1,1:chr2 g.92290837T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290868 rs62147844 A T 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:5:2:0:0:1,4:34,100:0.00,10.81:0.00,6.56:0.00,4.25:0.00,0.96:0.00,0.97:0.00,0.99:50,30:0.0,238.8:0,0:0,0:73,23:78,103:0,13:-,chr2 g.92290867A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290878 rs191165296 T A 11 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,T:16:10:0:0:4,12:133,382:11.30,0.00:8.84,0.00:2.46,0.00:0.75,0.00:0.91,0.00:0.89,0.00:29,57:251.5,193.9:0,0:0,0:5,13:144,97:3,7:chr2 g.92290877T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290890 rs139113318 G T 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=304 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:26:17:0:0:1,15,10:9,488,312:-0.01,0.00,28.66:-0.10,0.00,25.31:0.09,0.00,3.36:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:7,50,60:186.0,203.7,179.9:0,0,0:0,0,0:49,23,12:82,87,135:0,12,3:-,chr2 g.92290889G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290902 rs143907491 C G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,G:31:22:0:0:25,6:805,187:0.00,14.95:0.00,4.38:0.00,10.57:0.00,0.90:0.00,0.97:0.00,0.95:60,40:171.4,241.0:0,0:0,0:25,29:99,120:10,6:-,chr2 g.92290901C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290905 rs373570010 T A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=173 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:A,T:32:23:0:0:3,29:105,924:7.61,0.00:2.02,0.00:5.59,0.00:0.88,0.00:0.80,0.00:0.74,0.00:40,60:280.0,176.4:0,0:0,0:45,27:65,108:2,9:chr2 g.92290904T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290929 rs28839907 C A,G 96 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.8339,A/0.1661,G/.;NP=702 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:A,C,G:43:35:0:0:27,4,12:903,140,379:95.94,0.00,36.40:64.56,0.00,17.61:31.38,0.00,18.79:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,50,56:186.5,8.2,223.8:0,0,0:0,0,0:49,48,49:93,51,86:12,22,26:chr2 g.92290928C>A (intergenic),chr2 g.92290928C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290931 rs7349462 G A 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=73 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:36:0:0:17,27:520,944:47.32,0.00:20.26,0.00:27.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:235.7,146.5:0,0:0,0:59,43:66,91:14,15:chr2 g.92290930G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92290958 rs146757460 A G 39 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=24;NP=55 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:38:0:0:33,13:1078,445:0.00,38.81:0.00,17.96:0.00,20.85:0.00,1.00:0.00,1.00:0.00,1.00:60,56:160.9,215.2:0,0:0,0:70,77:59,60:18,28:-,chr2 g.92290957A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290959 rs139373758 C T 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:37:0:0:32,13:1038,394:0.00,33.86:0.00,15.18:0.00,18.69:0.00,1.00:0.00,1.00:0.00,1.00:60,56:156.9,216.8:0,0:0,0:74,78:53,59:15,28:-,chr2 g.92290958C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290976 rs371466023 C T 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:45:38:0:0:40,5:1329,161:0.00,11.68:0.00,4.25:0.00,7.43:0.00,0.74:0.00,0.96:0.00,0.93:60,43:177.9,194.8:0,0:0,0:86,107:45,3:19,9:-,chr2 g.92290975C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290985 rs62147845 A G 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=103 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:35:0:0:18,24:552,806:0.00,79.60:0.00,53.48:0.00,26.12:0.00,1.00:0.00,1.00:0.00,1.00:56,60:213.3,172.5:0,0:0,0:109,93:17,38:23,18:-,chr2 g.92290984A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92290989 rs62147846 A G 132 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=71 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:30:0:0:34:1159:132.08:78.89:53.19:1.00:1.00:1.00:60:192.2:0:0:97:33:19:chr2 g.92290988A>G (intergenic),chr2 g.92290988A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92290990 rs145739159 T A 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:29:0:0:11,22:365,700:32.63,0.00:14.90,0.00:17.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:222.2,167.8:0,0:0,0:109,98:30,33:23,18:chr2 g.92290989T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291002 rs62147847 C G 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:29:27:0:0:10,19:327,648:0.00,65.76:0.00,46.65:0.00,19.11:0.00,1.00:0.00,1.00:0.00,1.00:43,60:227.8,178.8:0,0:0,0:109,110:20,26:19,19:-,chr2 g.92291001C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291019 rs199775153 T C 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:20:0:0:15,8:504,249:51.10,0.00:37.84,0.00:13.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,55:184.5,221.6:1,0:0,0:128,123:9,6:18,22:chr2 g.92291018T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291036 rs201689485 T A 15 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.902,A/0.09804,G/.;NP=101 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:129:14.81:7.45:7.35:1.00:1.00:1.00:37:234.2:1:0:6:109:0:chr2 g.92291035T>A (intergenic),chr2 g.92291035T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92291058 rs78008856 G C 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.993,C/.,T/0.006989;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,G,T:14:5:0:0:5,8,1:125,229,9:11.11,0.00,0.13:1.46,0.00,-0.11:9.65,0.00,0.24:0.90,0.00,0.00:0.88,0.00,0.00:0.98,0.00,0.00:37,60,22:259.0,188.6,236.0:0,0,0:0,0,0:35,21,15:72,118,132:11,9,0:chr2 g.92291057G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291076 rs200027305 G T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,T:20:8:0:0:17,3:512,102:0.00,7.97:0.00,2.69:0.00,5.28:0.00,0.50:0.00,0.68:0.00,0.83:60,43:236.9,194.0:0,0:0,0:33,33:109,100:12,9:-,chr2 g.92291075G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291078 rs200652601 T G 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:G,T:20:8:0:0:4,16:136,504:11.16,0.00:5.87,0.00:5.29,0.00:0.71,0.00:0.79,0.00:0.92,0.00:43,60:212.5,234.9:0,0:0,0:34,41:101,103:5,14:chr2 g.92291077T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291089 rs7369640 T A 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:21:9:0:0:10,11:290,300:27.45,0.00:5.94,0.00:21.51,0.00:1.00,0.00:0.99,0.00:1.00,0.00:45,60:200.3,246.2:0,0:0,0:46,45:87,96:10,11:chr2 g.92291088T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291098 rs78042249 T G 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:22:10:0:0:14,8:433,255:43.65,0.00:17.53,0.00:26.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:233.2,202.1:0,0:0,0:54,55:76,85:12,12:chr2 g.92291097T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291099 rs75808701 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=64 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G,T:21:9:0:0:15,5,1:494,136,11:0.00,11.10,0.10:0.00,3.98,-0.12:0.00,7.12,0.22:0.00,0.85,0.00:0.00,0.88,0.00:0.00,0.97,0.00:60,60,21:213.9,226.2,275.0:0,0,0:0,0,0:56,56,44:77,91,93:12,1,0:-,chr2 g.92291098A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291104 rs146177730 C A 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.9972,A/0.002796;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:10:0:0:9,13:263,374:24.14,0.00:6.93,0.00:17.21,0.00:1.00,0.00:0.99,0.00:1.00,0.00:40,60:272.9,186.0:0,0:0,0:60,61:81,72:11,12:chr2 g.92291103C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291129 rs62147848 T C 72 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=211 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:C,T:22:10:0:0:21,1:635,31:71.58,0.00:19.19,0.00:52.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:221.7,12.0:1,0:0,0:86,74:47,77:12,0:chr2 g.92291128T>C (intergenic),chr2 g.92291128T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92291131 rs77996162 T G 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:G,T:22:10:0:0:4,18:144,568:11.78,0.00:1.06,0.00:10.72,0.00:0.70,0.00:0.81,0.00:0.93,0.00:60,60:215.5,210.0:0,1:0,0:88,87:52,43:8,11:chr2 g.92291130T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291145 . C G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:10:0:0:12,7:371,213:0.00,19.23:0.00,8.84:0.00,10.39:0.00,0.98:0.00,0.98:0.00,1.00:60,40:171.4,273.4:0,0:0,0:102,95:31,42:11,5:-,chr2 g.92291144C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291146 rs377186079 A C 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,C,G,T:18:10:0:3:10,5,2,1:325,102,47,33:0.00,8.38,3.28,2.28:0.00,5.91,-0.18,2.44:0.00,2.47,3.46,-0.16:0.00,0.87,0.00,0.00:0.00,0.94,0.00,0.00:0.00,0.97,0.00,0.00:60,44,37,35:159.0,286.4,251.5,297.0:0,0,0,0:0,0,0,0:97,93,105,95:30,46,43,42:12,3,10,0:-,chr2 g.92291145A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291150 . G C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,G:17:9:0:0:5,12:123,405:10.21,0.00:6.20,0.00:4.01,0.00:0.88,0.00:0.93,0.00:0.97,0.00:40,60:286.0,171.4:0,0:0,0:99,107:38,26:2,11:chr2 g.92291149G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291156 rs7349284 A C 12 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,C:17:9:0:0:12,5:355,140:0.00,11.91:0.00,0.72:0.00,11.19:0.00,0.88:0.00,0.93:0.00,0.97:60,60:197.2,225.8:0,0:0,0:104,113:30,21:7,13:-,chr2 g.92291155A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291160 . T A 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,T:17:9:0:0:5,12:136,392:11.51,0.00:7.20,0.00:4.31,0.00:0.88,0.00:0.93,0.00:0.97,0.00:40,60:286.0,173.8:0,0:0,0:109,117:28,16:2,11:chr2 g.92291159T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291163 . T A 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,T:17:9:0:0:5,12:133,404:11.20,0.00:5.79,0.00:5.41,0.00:0.88,0.00:0.93,0.00:0.97,0.00:40,60:286.0,173.8:0,0:0,0:112,120:25,13:2,11:chr2 g.92291162T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291178 rs74694106 T A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7742,A/0.2258,G/.;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:A,G,T:10:5:0:0:6,2,2:164,31,41:17.11,2.48,0.00:3.50,1.69,0.00:13.60,0.79,0.00:0.99,0.00,0.00:0.78,0.00,0.00:0.99,0.00,0.00:43,40,60:266.8,283.0,140.5:0,0,0:0,0,0:127,125,128:11,11,22:5,2,5:chr2 g.92291177T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291358 rs6594170 C T 12 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:5:5:0:0:1,4:35,113:0.00,12.12:0.00,12.12:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:50,27:34.0,160.2:0,0:0,0:30,3:121,146:0,1:-,chr2 g.92291357C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291365 rs6594171 G A 14 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:5:5:0:0:4,1:129,35:13.72,0.00:13.72,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:27,50:160.2,34.0:0,0:0,0:10,37:139,114:1,0:chr2 g.92291364G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291377 rs200784261 T C 11 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,T:18:17:0:0:4,14:131,422:10.87,0.00:11.09,0.00:-0.22,0.00:0.73,0.00:0.96,0.00:0.57,0.00:27,50:273.5,143.7:0,0:0,0:4,12:145,136:3,8:chr2 g.92291376T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291383 rs6421810 A C 73 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=99 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,C:26:25:0:0:5,21:167,685:0.00,72.99:0.00,74.42:0.00,-1.43:0.00,1.00:0.00,1.00:0.00,0.99:50,29:226.8,149.5:0,0:0,0:17,8:132,143:6,6:-,chr2 g.92291382A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291398 rs373192236 T A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,T:68:65:0:0:5,63:180,1948:12.63,0.00:4.06,0.00:8.58,0.00:0.66,0.00:0.96,0.00:0.63,0.00:22,50:270.6,132.2:0,0:0,0:31,11:117,139:3,5:chr2 g.92291397T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291400 rs75504923 T G 90 nt VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:68:64:0:0:1,30,37:34,958,1106:1.81,90.12,0.00:1.83,65.79,0.00:-0.02,24.33,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:21,40,50:98.0,223.3,65.9:0,0,0:0,0,0:14,11,14:137,139,137:0,5,7:chr2 g.92291399T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291401 . C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,C,G,T:73:68:0:0:5,62,5,1:128,2057,180,31:7.58,0.00,12.66,1.35:7.82,0.00,2.71,1.40:-0.24,0.00,9.94,-0.05:0.00,0.00,0.65,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.60,0.00:40,50,40,21:172.2,124.5,276.0,98.0:0,0,0,0:0,0,0,0:12,13,35,15:139,137,114,136:6,6,1,0:-,chr2 g.92291400C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291407 rs199710204 T G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:87:82:0:0:15,72:491,2250:38.95,0.00:33.08,0.00:5.87,0.00:1.00,0.00:1.00,0.00:0.98,0.00:28,50:217.0,116.4:0,0:0,0:19,15:132,132:5,9:chr2 g.92291406T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291408 rs7349307 T G 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:103:97:0:0:17,86:558,2691:43.89,0.00:34.50,0.00:9.39,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,50:200.8,130.1:0,0:0,0:19,17:131,130:6,10:chr2 g.92291407T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291438 rs4093585 T C 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:128:118:0:0:22,1,105:766,11,3390:61.68,-0.26,0.00:45.99,-0.16,0.00:15.69,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,6,50:164.3,201.0,116.7:0,0,0:0,0,0:39,36,41:112,110,105:9,0,12:chr2 g.92291437T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291445 rs113123332 C G 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=NA;NP=1;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:132:122:0:0:109,16,7:3823,514,228:0.00,38.30,14.64:0.00,25.62,12.87:0.00,12.68,1.77:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,40,22:101.3,243.4,256.0:0,0,0:0,0,0:45,41,65:103,109,57:16,9,6:-,chr2 g.92291444C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291452 . C A 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=147;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:147:132:0:0:12,135:384,4657:26.09,0.00:15.17,0.00:10.92,0.00:0.99,0.00:1.00,0.00:0.99,0.00:34,50:262.4,128.9:0,0:0,0:16,55:123,95:4,15:chr2 g.92291451C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291460 rs7349252 C T 250 nt VT=SNV;PN=C;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=NA;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:148:132:0:0:72,76:2300,2587:0.00,250.41:0.00,155.88:0.00,94.52:0.00,1.00:0.00,1.00:0.00,1.00:41,40:56.5,221.6:0,0:0,0:52,59:97,88:18,19:-,chr2 g.92291459C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291464 rs1908155 A T 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=151;DB;DBA=NA;PAF=NA;NP=43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,T:151:133:0:0:136,15:4430,487:0.00,34.65:0.00,22.83:0.00,11.82:0.00,1.00:0.00,1.00:0.00,1.00:50,38:150.6,67.0:0,0:0,0:62,56:87,95:20,18:-,chr2 g.92291463A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291475 . T G 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=150 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,G,T:150:129:0:0:1,17,132:12,451,4371:-0.29,30.46,0.00:-0.24,11.93,0.00:-0.04,18.53,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,41:263.0,260.3,119.2:0,3,0:0,0,0:26,30,67:121,107,83:0,11,20:chr2 g.92291474T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291481 rs200684786 T C 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:154:132:0:0:16,138:566,4515:41.93,0.00:22.15,0.00:19.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:231.0,134.0:0,0:0,0:74,76:75,73:12,24:chr2 g.92291480T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291491 rs201908060 G T 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=152;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,G,T:152:129:0:0:3,136,13:105,4707,436:5.65,0.00,30.65:3.99,0.00,15.47:1.66,0.00,15.18:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,1.00:21,40,40:200.3,133.5,236.1:0,0,0:0,0,0:80,88,89:36,61,57:10,22,5:-,chr2 g.92291490G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291501 rs112782161 T A 39 nt VT=SNV;PN=T;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:142:118:0:0:17,4,121:529,142,4140:38.68,8.41,0.00:9.81,4.27,0.00:28.88,4.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,28,41:258.7,188.5,111.3:0,0,0:0,0,0:55,96,69:83,54,79:12,21,34:chr2 g.92291500T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291504 rs199723772 A G 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,C,G:150:126:0:0:134,1,15:4416,11,516:0.00,-0.32,37.67:0.00,-0.18,17.71:0.00,-0.14,19.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,37,40:131.3,296.0,235.2:0,0,0:0,0,0:98,41,101:49,104,49:21,0,13:-,chr2 g.92291503A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291515 rs9653608 C G 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:146:123:0:0:128,18:4516,553:0.00,40.29:0.00,10.29:0.00,30.00:0.00,1.00:0.00,1.00:0.00,1.00:41,40:116.4,271.7:0,0:0,0:88,69:59,68:36,12:-,chr2 g.92291514C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291516 rs13399894 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=NA;NP=78 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:146:123:0:0:132,14:4509,438:0.00,30.54:0.00,7.08:0.00,23.46:0.00,1.00:0.00,1.00:0.00,1.00:41,40:121.6,268.5:0,0:0,0:112,70:37,69:18,10:-,chr2 g.92291515A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291528 rs8179666 T G 39 nt VT=SNV;PN=T;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=NA;NP=43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:138:106:0:0:1,15,122:34,520,4134:1.36,38.61,0.00:0.72,15.73,0.00:0.64,22.88,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:8,40,50:133.0,235.7,110.7:0,0,0:0,0,0:83,125,82:68,25,65:0,6,26:chr2 g.92291527T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291555 rs9711353 T A 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:118:48:0:0:23,95:753,3202:61.00,0.00:10.03,0.00:50.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:238.4,92.9:0,0:0,0:109,100:31,51:17,24:chr2 g.92291554T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291557 rs151332021 T A 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:A,T:109:38:0:0:9,100:317,3311:22.51,0.00:-0.76,0.00:23.27,0.00:0.95,0.00:0.88,0.00:1.00,0.00:23,50:228.0,116.1:0,0:0,0:107,94:44,50:11,21:chr2 g.92291556T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291567 rs6421811 G C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:C,G:108:32:0:0:9,99:295,3302:20.45,0.00:5.38,0.00:15.07,0.00:0.95,0.00:0.84,0.00:1.00,0.00:20,50:98.4,127.1:0,0:0,0:86,104:64,40:14,22:chr2 g.92291566G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291569 rs6594176 G T 53 nt VT=SNV;PN=A;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.975,T/0.02496;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:110:37:0:0:1,89,20:32,3017,660:1.29,0.00,52.99:0.76,0.00,12.95:0.53,0.00,40.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:18,50,22:183.0,133.5,109.6:0,0,0:0,0,0:74,114,101:68,32,49:0,21,25:-,chr2 g.92291568G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291584 rs6594177 T A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C,T:84:13:0:0:8,4,72:246,110,2380:17.20,6.17,0.00:2.77,2.12,0.00:14.42,4.05,0.00:0.93,0.00,0.00:0.64,0.00,0.00:1.00,0.00,0.00:20,31,52:130.8,247.5,121.3:0,0,0:0,0,0:103,98,112:47,37,35:3,17,16:chr2 g.92291583T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291586 rs192803261 G T 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:82:11:0:0:70,12:2288,383:0.00,29.21:0.00,2.13:0.00,27.08:0.00,1.00:0.00,0.76:0.00,1.00:52,40:103.1,255.8:0,0:0,0:111,121:38,22:14,7:-,chr2 g.92291585G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291589 . A G 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=77;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,C,G,T:77:10:0:0:66,1,9,1:2122,10,304,31:0.00,-0.25,22.75,1.32:0.00,0.10,-0.27,-0.03:0.00,-0.35,23.02,1.35:0.00,0.00,0.97,0.00:0.00,0.00,0.65,0.00:0.00,0.00,1.00,0.00:50,2,40,15:105.1,251.0,256.3,130.0:0,0,0,0:0,0,0,0:116,90,117,94:32,48,19,57:14,0,9,0:-,chr2 g.92291588A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92291608 rs7355355 C A 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:52:2:0:0:17,31,4:558,1058,136:50.33,0.00,9.98:3.41,0.00,-0.02:46.92,0.00,10.00:1.00,0.00,0.00:0.62,0.00,0.00:1.00,0.00,0.00:22,52,20:123.6,62.3,255.5:0,0,0:0,0,0:125,126,115:26,24,27:8,10,1:chr2 g.92291607C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92291610 rs199768798 G A 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G:51:2:0:0:8,43:263,1458:20.50,0.00:2.94,0.00:17.56,0.00:0.96,0.00:0.41,0.00:1.00,0.00:20,52:240.1,72.1:0,0:0,0:116,128:26,22:3,8:chr2 g.92291609G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296054 . A G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,G:4:3:0:0:1,3:11,92:0.00,9.69:0.00,10.26:0.00,-0.57:0.00,0.85:0.00,0.99:0.00,0.83:40,40:279.0,235.7:0,0:0,0:43,42:94,71:0,2:-,chr2 g.92296053A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296068 rs62149065 T A 21 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:183:21.14:19.38:1.75:1.00:1.00:1.00:40:254.2:0:0:45:80:12:chr2 g.92296067T>A (intergenic),chr2 g.92296067T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296081 rs200682560 T A 21 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:180:20.84:18.98:1.86:1.00:1.00:1.00:40:254.2:0:0:58:67:12:chr2 g.92296080T>A (intergenic),chr2 g.92296080T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296101 rs62149066 C G 40 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:10:0:0:11:351:40.33:38.37:1.96:1.00:1.00:1.00:40:257.8:0:0:41:105:26:chr2 g.92296100C>G (intergenic),chr2 g.92296100C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296114 rs62149067 T C 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:10:0:0:11:365:41.75:38.07:3.68:1.00:1.00:1.00:40:257.8:0:0:54:92:26:chr2 g.92296113T>C (intergenic),chr2 g.92296113T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296124 rs62149068 A G 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:10:0:0:11:331:38.30:34.52:3.78:1.00:1.00:1.00:40:257.8:0:0:64:82:26:chr2 g.92296123A>G (intergenic),chr2 g.92296123A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296130 rs62149069 A G 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:9:0:0:10:328:37.57:31.60:5.97:1.00:1.00:1.00:40:254.7:0:0:58:76:16:chr2 g.92296129A>G (intergenic),chr2 g.92296129A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296163 rs371027247 T A 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:5:0:0:5:119:14.23:14.23:0.00:1.00:1.00:0.00:40:256.4:0:0:77:43:3:chr2 g.92296162T>A (intergenic),chr2 g.92296162T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296164 rs11490632 C G 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:189:21.76:19.72:2.04:1.00:1.00:1.00:40:260.2:0:0:78:42:1:chr2 g.92296163C>G (intergenic),chr2 g.92296163C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296165 . G T 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:5:5:0:0:2,3:66,80:0.00,7.97:0.00,7.97:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:40,40:269.0,248.0:0,0:0,0:76,82:41,41:2,3:-,chr2 g.92296164G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296173 rs144923985 T C 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:165:19.28:17.24:2.04:1.00:1.00:1.00:40:260.2:0:0:87:33:1:chr2 g.92296172T>C (intergenic),chr2 g.92296172T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296179 rs150767987 A C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,G:5:5:0:0:4,1:97,6:11.18,0.41:11.18,0.41:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:40,24:258.0,250.0:0,0:0,0:93,119:27,27:1,0:chr2 g.92296178A>C (intergenic),chr2 g.92296178A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296224 . C A 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:4:2:0:0:2,2:66,67:6.35,0.00:-0.60,0.00:6.95,0.00:0.51,0.00:0.79,0.00:0.79,0.00:46,57:288.5,144.5:0,0:0,0:12,5:125,144:6,2:chr2 g.92296223C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296232 rs62149070 C T 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:2:0:0:5:156:17.98:7.85:10.13:1.00:1.00:1.00:57:224.6:0:0:14:133:3:chr2 g.92296231C>T (intergenic),chr2 g.92296231C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296274 rs62149071 T G 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:G,T:8:4:0:0:7,1:218,34:23.79,0.00:8.56,0.00:15.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,40:252.9,232.0:0,0:0,0:56,28:82,122:10,0:chr2 g.92296273T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296327 rs75172975 T A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,T:8:4:0:0:4,4:140,89:13.53,0.00:4.88,0.00:8.65,0.00:0.99,0.00:0.51,0.00:0.96,0.00:46,13:276.8,223.8:0,0:0,0:114,104:22,47:6,8:chr2 g.92296326T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296380 rs77704176 C A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=352 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,C:4:1:0:0:3,1:92,36:9.65,0.00:2.85,0.00:6.80,0.00:0.85,0.00:0.83,0.00:0.99,0.00:40,50:217.0,68.0:0,0:0,0:32,34:109,112:18,0:chr2 g.92296379C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296409 rs4115635 T A 8 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=368 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,T:4:2:0:0:3,1:76,34:8.01,0.00:4.96,0.00:3.05,0.00:0.85,0.00:0.95,0.00:0.95,0.00:17,50:220.7,68.0:0,0:0,0:43,63:90,83:18,0:chr2 g.92296408T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296425 rs200506042 C T 9 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:4:2:0:0:1,3:32,83:0.00,8.74:0.00,5.49:0.00,3.25:0.00,0.85:0.00,0.95:0.00,0.95:50,17:68.0,220.7:0,0:0,0:79,59:67,74:0,18:-,chr2 g.92296424C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296430 rs4115634 C T 9 mq,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=598 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:2:0:0:1,3:34,89:0.00,9.35:0.00,6.10:0.00,3.25:0.00,0.85:0.00,0.95:0.00,0.95:50,17:68.0,220.7:0,0:0,0:84,64:62,69:0,18:-,chr2 g.92296429C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296436 rs79874005 A G 7 mq,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,G:4:2:0:0:2,2:40,71:0.00,6.88:0.00,3.51:0.00,3.38:0.00,0.51:0.00,0.79:0.00,0.79:50,17:123.0,242.0:0,0:0,0:80,68:54,82:10,19:-,chr2 g.92296435A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296453 rs78784259 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:7:5:0:0:2,5:71,149:0.00,15.43:0.00,12.51:0.00,2.91:0.00,0.98:0.00,1.00:0.00,0.98:50,40:135.5,220.4:0,0:0,0:55,66:84,85:52,39:-,chr2 g.92296452C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296470 rs62149073 T C 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,G,T:7:5:0:0:4,1,2:139,10,67:14.10,0.54,0.00:10.92,0.64,0.00:3.18,-0.10,0.00:0.90,0.00,0.00:0.98,0.00,0.00:0.93,0.00,0.00:40,6,50:231.0,178.0,135.5:0,0,0:0,0,0:59,104,72:89,19,67:28,0,52:chr2 g.92296469T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296501 rs58803725 A G 16 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:142:16.11:14.12:1.99:1.00:1.00:1.00:40:222.5:0:0:62:80:8:chr2 g.92296500A>G (intergenic),chr2 g.92296500A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296560 . A G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:4:0:0:1,3:34,84:0.00,8.85:0.00,6.92:0.00,1.93:0.00,0.85:0.00,0.85:0.00,0.83:35,40:211.0,237.7:0,0:0,0:126,110:20,23:0,7:-,chr2 g.92296559A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296570 rs57824532 T A 15 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:135:15.41:13.42:1.99:1.00:1.00:1.00:40:231.0:0:0:123:13:8:chr2 g.92296569T>A (intergenic),chr2 g.92296569T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296660 rs78183134 G C 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:C,G:12:12:0:0:11,1:333,34:37.01,0.00:34.99,0.00:2.02,0.00:1.00,0.00:1.00,0.00:0.94,0.00:40,21:258.2,239.0:0,0:0,0:23,16:128,135:16,0:chr2 g.92296659G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296688 rs76466868 C T 46 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:394:45.93:44.05:1.89:1.00:1.00:1.00:40:257.1:0:0:47:103:16:chr2 g.92296687C>T (intergenic),chr2 g.92296687C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296694 rs80300792 A T 40 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,T:13:13:0:0:1,12:34,363:0.00,40.49:0.00,38.62:0.00,1.87:0.00,1.00:0.00,1.00:0.00,0.95:5,40:297.0,252.2:0,0:0,0:37,53:107,97:0,16:-,chr2 g.92296693A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296699 rs187447515 T G 41 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:G:13:13:0:0:13:355:41.41:39.52:1.89:1.00:1.00:1.00:40:257.9:0:0:55:96:13:chr2 g.92296698T>G (intergenic),chr2 g.92296698T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296711 rs28818855 A G 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,G:15:15:0:0:1,14:33,463:0.00,51.38:0.00,49.35:0.00,2.02:0.00,1.00:0.00,1.00:0.00,0.95:5,40:297.0,252.4:0,0:0,0:54,66:90,84:0,14:chr2 g.92296710A>G (intergenic),chr2 g.92296710A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296728 rs76765491 G A 76 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A,T:22:20:0:0:21,1:664,34:75.97,2.53:65.09,2.53:10.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,5:245.4,297.0:0,0:0,0:70,71:80,73:35,0:chr2 g.92296727G>A (intergenic),chr2 g.92296727G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296750 rs377038057 A AC 79 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,AC:35:31:30:0:5,30:139,712:0.00,78.91:0.00,63.75:0.00,15.15:0.00,1.00:0.00,1.00:0.00,1.00:40,44:252.4,231.5:1,0:0,0:93,31:51,120:33,17:-,chr2 g.92296750_92296751insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296751 rs74959422 A C,T 111 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:37:A,C,T:36:32:0:0:1,4,31:34,112,994:0.00,9.31,111.25:0.00,7.90,87.42:0.00,1.41,23.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:5,40,44:297.0,248.8,232.5:0,1,30:0,0,0:94,108,33:50,33,118:0,26,18:chr2 g.92296750A>C (intergenic),chr2 g.92296750A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296776 rs77234483 T A 197 nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:63:53:0:1:56,7:1798,241:196.85,0.00:140.69,0.00:56.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,40:228.6,254.4:0,0:0,0:34,17:110,114:19,13:chr2 g.92296775T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296805 rs62149075 C G 267 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=62 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:A,G:73:57:0:0:1,72:27,2329:1.34,266.63:1.34,161.77:0.00,104.86:0.00,1.00:0.00,1.00:0.00,1.00:5,51:297.0,232.0:0,0:0,0:149,48:-5,98:0,14:chr2 g.92296804C>G (intergenic),chr2 g.92296804C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296813 rs74328256 A G 270 nt VT=SNV;PN=T;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:73:56:0:0:72,1:2366,11:270.34,0.17:158.65,0.17:111.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,9:226.6,202.0:0,0:0,0:56,73:89,77:15,0:chr2 g.92296812A>G (intergenic),chr2 g.92296812A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296828 rs62149076 G T 262 nt VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:72:53:0:0:72:2282:262.42:139.15:123.26:1.00:1.00:1.00:60:229.2:0:0:63:77:15:chr2 g.92296827G>T (intergenic),chr2 g.92296827G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296844 rs62149077 A G 228 nt VT=SNV;PN=G;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:74:53:0:0:10,64:278,2097:0.00,227.59:0.00,103.41:0.00,124.18:0.00,1.00:0.00,1.00:0.00,1.00:40,60:230.4,222.9:0,0:0,0:38,79:66,60:29,14:-,chr2 g.92296843A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296852 rs113903872 C G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,G:79:58:0:0:72,7:2336,217:0.00,14.90:0.00,10.48:0.00,4.42:0.00,0.88:0.00,0.98:0.00,0.98:59,40:218.6,232.3:0,0:0,0:88,47:52,47:16,21:-,chr2 g.92296851C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296859 rs113991620 G T 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:G,T:79:56:0:0:72,7:2334,190:0.00,12.25:0.00,8.23:0.00,4.03:0.00,0.88:0.00,0.97:0.00,0.98:59,40:219.9,234.1:0,0:0,0:94,52:48,40:14,19:-,chr2 g.92296858G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296884 rs76871004 C A 220 nt VT=SNV;PN=T;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=672 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A:63:41:0:0:63:1901:219.90:104.07:115.83:1.00:1.00:1.00:59:232.0:0:0:115:29:14:chr2 g.92296883C>A (intergenic),chr2 g.92296883C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296886 rs76212018 A G 162 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=702 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:56:34:0:0:7,49:235,1478:0.00,161.65:0.00,63.50:0.00,98.15:0.00,1.00:0.00,1.00:0.00,1.00:40,60:245.3,228.8:0,0:0,0:127,114:23,32:16,13:-,chr2 g.92296885A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296888 . A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,G:63:41:0:0:57,6:1818,162:0.00,10.55:0.00,7.58:0.00,2.97:0.00,0.81:0.00,0.94:0.00,0.95:60,40:230.2,243.7:0,0:0,0:118,125:27,16:12,18:-,chr2 g.92296887A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92296920 rs62149078 T A 61 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G,T:23:10:0:0:18,1,4:566,33,105:60.67,2.34,0.00:25.31,-0.02,0.00:35.36,2.36,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:59,60,49:255.9,300.0,247.0:0,0,0:0,0,0:131,146,98:14,5,44:11,0,6:chr2 g.92296919T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296927 rs62149079 C G 66 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:8:0:0:18:571:65.68:23.53:42.15:1.00:1.00:1.00:49:263.6:0:0:135:11:12:chr2 g.92296926C>G (intergenic),chr2 g.92296926C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92296939 rs373507234 G C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:C,G:10:3:0:0:7,3:222,78:22.91,0.00:7.24,0.00:15.66,0.00:1.00,0.00:0.97,0.00:1.00,0.00:40,40:274.9,252.3:0,0:0,0:136,113:6,27:4,3:chr2 g.92296938G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92296945 rs75042767 C A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:136:15.96:5.33:10.63:1.00:1.00:1.00:40:261.0:0:0:128:18:12:chr2 g.92296944C>A (intergenic),chr2 g.92296944C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92297072 rs79408893 T C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,T:7:4:0:0:6,1:155,9:17.15,0.00:7.03,0.00:10.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:210.3,11.0:0,0:0,0:27,26:66,111:9,0:chr2 g.92297071T>C (intergenic),chr2 g.92297071T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92297095 rs201060278 T C 9 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:8:5:0:0:3,5:101,141:9.25,0.00:1.23,0.00:8.02,0.00:0.67,0.00:0.90,0.00:0.95,0.00:50,60:218.3,180.2:0,0:0,0:58,41:43,88:10,2:chr2 g.92297094T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297104 rs147557065 G A 8 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:8:5:0:0:3,5:93,167:8.43,0.00:1.12,0.00:7.32,0.00:0.67,0.00:0.90,0.00:0.95,0.00:50,60:218.3,180.2:0,0:0,0:67,50:34,79:10,2:chr2 g.92297103G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297106 rs76155290 G T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:G,T:8:5:0:0:5,3:170,99:0.00,9.03:0.00,6.50:0.00,2.53:0.00,0.67:0.00,0.90:0.00,0.95:60,49:194.4,202.3:0,0:0,0:60,50:77,32:8,0:-,chr2 g.92297105G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297108 rs78890929 A G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,G:8:5:0:0:5,3:126,81:0.00,7.23:0.00,4.43:0.00,2.80:0.00,0.67:0.00,0.90:0.00,0.95:60,49:189.8,202.3:0,0:0,0:62,52:75,30:8,0:-,chr2 g.92297107A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297121 rs77742254 A G 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:8:5:0:0:5,3:124,77:0.00,6.82:0.00,4.17:0.00,2.64:0.00,0.67:0.00,0.90:0.00,0.95:60,49:191.4,203.0:0,0:0,0:75,65:62,17:9,0:-,chr2 g.92297120A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297136 rs112622886 G T 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,T:6:4:0:0:1,5:35,125:0.00,13.66:0.00,7.59:0.00,6.07:0.00,0.99:0.00,1.00:0.00,1.00:60,50:11.0,233.2:0,0:0,0:90,89:47,48:0,7:-,chr2 g.92297135G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297139 rs138791858 G A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:2:0:0:3,1:84,35:8.85,0.00:4.88,0.00:3.97,0.00:0.85,0.00:0.95,0.00:0.99,0.00:50,60:238.0,11.0:0,0:0,0:85,93:47,44:2,0:chr2 g.92297138G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297250 rs113613592 C T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:4:0:0:1,3:33,99:0.00,10.35:0.00,10.65:0.00,-0.30:0.00,0.85:0.00,0.85:0.00,0.83:60,35:0.0,257.0:0,0:0,0:79,16:71,126:0,4:-,chr2 g.92297249C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297265 rs148290582 T G 14 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:5:5:0:0:4,1:131,33:13.92,0.00:14.27,0.00:-0.35,0.00:0.96,0.00:0.96,0.00:0.87,0.00:35,60:251.8,0.0:4,0:0,0:23,94:120,56:9,0:chr2 g.92297264T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297267 rs367991560 AC A 12 sb,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AC,A:6:6:0:5:1,5:34,107:0.00,11.63:0.00,10.22:0.00,1.41:0.00,0.99:0.00,0.99:0.00,0.98:60,46:0.0,255.0:0,0:0,0:96,21:54,128:0,7:-,chr2 g.92297268delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297269 rs199644463 G T 15 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:G,T:7:6:0:0:2,5:57,146:0.00,15.16:0.00,14.06:0.00,1.10:0.00,0.98:0.00,1.00:0.00,0.98:60,46:89.0,255.0:0,0:0,0:49,22:101,127:49,7:-,chr2 g.92297268G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297291 rs113238522 T A 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,T:11:7:0:0:7,4:216,140:21.79,0.00:13.98,0.00:7.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,58:245.9,116.5:0,0:0,0:37,23:109,115:7,8:chr2 g.92297290T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297302 rs184805782 T A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:A,T:13:9:0:0:5,8:147,259:13.30,0.00:9.06,0.00:4.24,0.00:0.91,0.00:0.98,0.00:0.97,0.00:35,60:255.0,153.6:0,0:0,0:48,31:98,119:6,8:chr2 g.92297301T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297312 rs62145565 A C 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=698 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,C:15:11:0:0:4,11:135,372:0.00,38.67:0.00,21.36:0.00,17.31:0.00,1.00:0.00,1.00:0.00,1.00:60,35:175.8,208.6:0,0:0,0:31,44:60,105:22,14:-,chr2 g.92297311A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297315 . G A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,C,G:14:10:0:0:6,1,7:185,10,236:17.45,0.23,0.00:11.48,-0.11,0.00:5.97,0.34,0.00:0.96,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:35,11,58:248.0,178.0,141.7:0,0,0:0,0,0:66,46,35:71,104,109:9,0,18:chr2 g.92297314G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297345 rs370240850 T A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:11:0:0:8,8:272,257:26.20,0.00:13.35,0.00:12.85,0.00:1.00,0.00:1.00,0.00:0.98,0.00:46,58:239.1,142.4:0,0:0,0:78,68:52,82:16,17:chr2 g.92297344T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297357 . G A 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;NP=151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,C,G:17:12:0:0:3,1,13:101,19,443:8.18,0.83,0.00:4.09,-0.17,0.00:4.09,1.00,0.00:0.53,0.00,0.00:0.85,0.00,0.00:0.86,0.00,0.00:40,11,58:253.7,178.0,185.2:0,0,0:0,0,0:59,88,89:38,62,60:10,0,20:chr2 g.92297356G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297359 rs112062952 G T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8816,T/0.1184;NP=442 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:G,T:15:10:0:0:10,5:355,143:0.00,12.52:0.00,5.72:0.00,6.80:0.00,0.89:0.00,0.97:0.00,0.98:58,24:201.6,150.2:0,0:0,0:95,79:36,72:15,11:-,chr2 g.92297358G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297376 . G T 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:16:9:0:0:10,6:311,198:0.00,18.07:0.00,9.39:0.00,8.68:0.00,0.95:0.00,0.97:0.00,0.99:58,35:173.0,211.3:0,0:0,0:78,89:63,27:27,36:-,chr2 g.92297375G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297398 rs113123895 C A,G 29 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.737,A/0.263;NP=239 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:58:A,C,G:12:6:0:0:8,1,3:267,33,84:28.63,0.00,7.90:10.88,0.00,2.15:17.75,0.00,5.75:1.00,0.00,0.00:0.93,0.00,0.00:1.00,0.00,0.00:35,40,15:186.8,263.0,228.3:0,0,0:0,0,0:121,130,33:29,-3,117:10,0,3:chr2 g.92297397C>A (intergenic),chr2 g.92297397C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92297400 rs202089800 G A 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:13:6:0:0:7,6:202,211:19.58,0.00:3.44,0.00:16.13,0.00:0.99,0.00:0.99,0.00:1.00,0.00:40,40:246.0,169.0:0,0:0,0:102,123:43,27:33,8:chr2 g.92297399G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297443 rs147577444 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,T:7:5:0:0:1,6:34,183:0.00,19.91:0.00,11.56:0.00,8.35:0.00,1.00:0.00,1.00:0.00,1.00:42,40:132.0,211.5:0,0:0,0:9,90:107,58:0,31:-,chr2 g.92297442C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297452 rs141959701 G C 9 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:5:3:0:0:3,2:95,70:9.47,0.00:2.26,0.00:7.21,0.00:0.78,0.00:0.94,0.00:0.97,0.00:15,42:225.0,101.0:0,0:0,0:87,12:63,99:3,5:chr2 g.92297451G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297459 rs144169964 T A 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,T:7:4:0:0:5,2:171,53:17.67,0.00:3.12,0.00:14.55,0.00:0.98,0.00:0.99,0.00:1.00,0.00:42,42:215.4,152.5:0,0:0,0:43,72:94,60:40,47:chr2 g.92297458T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297476 . G C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;NP=1;NP=2;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,G:13:6:0:0:4,9:129,306:11.32,0.00:7.67,0.00:3.65,0.00:0.79,0.00:0.87,0.00:0.96,0.00:24,43:249.0,205.0:0,0:0,0:20,22:125,119:7,14:chr2 g.92297475G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297497 rs200100385 T A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=11;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,T:20:12:0:0:5,15:166,510:14.10,0.00:8.88,0.00:5.23,0.00:0.85,0.00:0.59,0.00:0.96,0.00:21,43:268.0,222.2:0,0:0,0:12,43:117,98:6,20:chr2 g.92297496T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297507 rs200999347 A G 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:12:0:0:10,10:325,340:0.00,32.75:0.00,26.07:0.00,6.68:0.00,1.00:0.00,0.98:0.00,1.00:43,24:212.0,258.6:0,0:0,0:57,28:74,107:17,11:-,chr2 g.92297506A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297528 rs77373171 G C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:C,G:19:13:0:0:5,14:178,472:15.43,0.00:7.62,0.00:7.82,0.00:0.86,0.00:0.96,0.00:0.96,0.00:24,42:247.8,228.5:0,0:0,0:67,57:84,86:16,16:chr2 g.92297527G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297536 . T G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:G,T:18:12:0:0:3,15:108,510:8.71,0.00:9.42,0.00:-0.71,0.00:0.52,0.00:0.83,0.00:0.83,0.00:22,42:268.7,225.1:0,0:0,0:49,75:78,72:4,16:chr2 g.92297535T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297548 rs200469549 T G 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:G,T:17:11:0:0:4,13:130,433:10.88,0.00:5.54,0.00:5.34,0.00:0.74,0.00:0.91,0.00:0.91,0.00:20,43:246.0,226.2:0,0:0,0:85,80:64,66:8,17:chr2 g.92297547T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297550 rs113108550 G C 12 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=192 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,G:17:11:0:0:4,13:142,432:12.08,0.00:0.79,0.00:11.29,0.00:0.74,0.00:0.91,0.00:0.91,0.00:40,42:203.0,248.7:0,0:0,0:95,76:51,64:7,13:chr2 g.92297549G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297558 . A T 14 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:A,T:16:10:0:0:11,5:360,162:0.00,14.27:0.00,15.57:0.00,-1.30:0.00,0.99:0.00,0.96:0.00,0.96:40,22:238.8,264.6:0,0:0,0:97,71:50,56:11,2:-,chr2 g.92297557A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297559 rs76984558 T A 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=86 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,T:17:11:0:0:12,5:398,140:41.10,0.00:22.14,0.00:18.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,24:249.7,252.6:0,0:0,0:82,98:55,53:12,11:chr2 g.92297558T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297562 rs113792875 T G 12 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,G,T:17:11:0:0:1,4,12:25,141,398:1.44,12.10,0.00:1.54,0.79,0.00:-0.11,11.30,0.00:0.00,0.74,0.00:0.00,0.91,0.00:0.00,0.87,0.00:23,40,24:255.0,210.5,261.5:0,0,0:0,0,0:54,107,83:97,39,52:0,7,9:chr2 g.92297561T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297568 rs75529427 T G 28 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:15:11:0:0:9,6:285,200:28.37,0.00:26.76,0.00:1.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:24,23:270.2,228.2:0,0:0,0:88,102:46,43:9,9:chr2 g.92297567T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297569 rs150525298 A G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,C,G:15:11:0:0:7,1,7:238,36,200:0.00,2.69,19.10:0.00,2.77,9.34:0.00,-0.08,9.76:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.98:22,3,24:230.3,279.0,273.4:0,0,0:0,0,0:89,82,95:45,45,46:11,0,10:-,chr2 g.92297568A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297574 rs76567374 C A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,C:15:11:0:0:4,11:122,384:10.33,0.00:7.63,0.00:2.70,0.00:0.76,0.00:0.94,0.00:0.86,0.00:24,23:276.8,244.7:0,0:0,0:111,94:38,40:7,11:chr2 g.92297573C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297595 rs62145566 T G 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G,T:14:11:0:0:12,2:423,23:45.65,0.00:28.51,0.00:17.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:22,24:260.8,266.0:0,0:0,0:119,116:19,30:11,29:chr2 g.92297594T>G (intergenic),chr2 g.92297594T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92297599 rs62145567 T C 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C,T:14:11:0:0:13,1:411,9:45.93,0.00:28.52,0.00:17.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:24,23:262.5,255.0:0,0:0,0:122,91:15,60:10,0:chr2 g.92297598T>C (intergenic),chr2 g.92297598T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92297788 rs3976412 G A 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=721 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:7:6:0:0:3,4:93,131:8.65,0.00:8.90,0.00:-0.24,0.00:0.69,0.00:0.95,0.00:0.62,0.00:23,60:107.7,7.2:0,0:0,0:74,44:73,100:33,24:chr2 g.92297787G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297908 rs139316547 T C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=60 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,T:10:7:0:0:4,6:137,185:12.69,0.00:13.46,0.00:-0.78,0.00:0.84,0.00:0.96,0.00:0.87,0.00:40,60:199.8,54.8:0,0:0,0:37,24:100,126:8,7:chr2 g.92297907T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297922 rs369820761 C A 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,C:13:10:0:0:3,10:99,339:8.28,0.00:8.68,0.00:-0.40,0.00:0.58,0.00:0.89,0.00:0.66,0.00:40,60:251.3,112.8:0,0:0,0:17,42:122,107:1,9:chr2 g.92297921C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297930 rs113235450 C T 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:C,T:14:10:0:0:6,8:178,256:0.00,25.27:0.00,23.01:0.00,2.26:0.00,1.00:0.00,1.00:0.00,0.98:60,40:54.8,222.1:1,0:0,0:46,36:104,108:7,16:-,chr2 g.92297929C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92297945 . T G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:G,T:14:10:0:0:4,10:127,321:10.97,0.00:6.81,0.00:4.16,0.00:0.98,0.00:0.94,0.00:0.80,0.00:40,40:244.5,142.8:3,0:0,0:39,62:99,84:2,9:chr2 g.92297944T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297971 . T A 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,T:16:10:0:0:6,10:194,328:17.67,0.00:4.72,0.00:12.94,0.00:0.95,0.00:0.98,0.00:0.67,0.00:40,40:246.7,142.8:0,0:0,0:55,88:90,58:11,9:chr2 g.92297970T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297982 . T A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,T:17:10:0:0:6,11:196,381:17.67,0.00:2.15,0.00:15.52,0.00:0.95,0.00:0.97,0.00:0.98,0.00:22,40:245.3,154.9:0,0:0,0:48,97:97,50:19,10:chr2 g.92297981T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92297995 rs9798477 C A,G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:72:A,C,G,T:16:8:0:0:7,3,5,1:234,105,170,33:23.48,0.00,16.37,2.49:3.19,0.00,9.77,2.53:20.28,0.00,6.60,-0.04:0.98,0.00,0.00,0.00:0.98,0.00,0.00,0.00:1.00,0.00,0.00,0.00:22,40,23,40:239.1,160.3,123.0,66.0:0,0,0,0:0,0,0,0:52,114,110,109:88,37,41,42:29,7,10,0:chr2 g.92297994C>A (intergenic),chr2 g.92297994C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92298025 rs185082499 T A 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:19:6:0:0:10,9:348,290:33.86,0.00:5.01,0.00:28.85,0.00:1.00,0.00:0.98,0.00:1.00,0.00:40,40:245.5,121.8:0,0:0,0:66,34:82,109:32,33:chr2 g.92298024T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92298056 rs550998369 G T 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:17:1:0:0:9,8:277,253:0.00,24.02:0.00,-0.28:0.00,24.30:0.00,0.99:0.00,0.65:0.00,1.00:40,22:144.8,240.0:0,0:0,0:49,84:100,67:16,27:-,chr2 g.92298055G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92298078 rs112338138 C A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,C,G:15:1:0:0:8,4,3:270,143,75:27.31,0.00,6.46:-0.17,0.00,-0.05:27.47,0.00,6.51:1.00,0.00,0.00:0.69,0.00,0.00:1.00,0.00,0.00:40,40,20:227.9,100.2,236.7:0,0,0:0,0,0:97,74,68:45,76,45:33,8,12:chr2 g.92298077C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92298080 rs201625221 G A 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9984,A/.,T/0.001597;NP=15;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:1:0:0:9,6:286,212:28.51,0.00:-0.20,0.00:28.71,0.00:1.00,0.00:0.73,0.00:1.00,0.00:22,40:239.7,129.5:0,0:0,0:108,69:43,81:26,11:chr2 g.92298079G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92298091 rs568572856 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9996,G/0.0003994;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:14:1:0:0:9,5:320,164:0.00,14.82:0.00,-0.10:0.00,14.92:0.00,0.90:0.00,0.57:0.00,0.90:40,22:165.2,242.0:0,0:0,0:81,119:65,32:12,18:-,chr2 g.92298090A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92298123 rs111638275 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,T:7:1:0:0:4,3:130,105:0.00,9.86:0.00,-0.12:0.00,9.98:0.00,0.69:0.00,0.62:0.00,0.69:40,40:94.5,216.3:0,0:0,0:119,101:31,46:8,2:-,chr2 g.92298122C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305574 . A G 16 sb;end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:8:8:0:1:2,6:66,147:0.00,15.55:0.00,16.15:0.00,-0.60:0.00,1.00:0.00,1.00:0.00,0.95:55,55:258.0,264.0:0,0:0,0:13,2:124,142:4,1:-,chr2 g.92305573A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305597 rs62145609 A C 238 nt VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=44 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:A,C:64:47:0:0:1,63:32,2099:0.00,237.66:0.00,147.83:0.00,89.83:0.00,1.00:0.00,1.00:0.00,1.00:44,60:269.0,252.9:0,0:0,0:7,25:120,115:0,7:chr2 g.92305596A>C (intergenic),chr2 g.92305596A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305618 rs62145610 T A 278 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=44 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:72:53:0:0:72:2438:278.08:160.03:118.05:1.00:1.00:1.00:60:247.8:0:0:44:93:9:chr2 g.92305617T>A (intergenic),chr2 g.92305617T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305622 rs62145611 C A 269 nt VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.8868,A/0.1132;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:74:55:0:0:74:2342:269.34:156.70:112.64:1.00:1.00:1.00:60:246.4:0:0:47:89:9:chr2 g.92305621C>A (intergenic),chr2 g.92305621C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305634 rs4883407 G T 287 nt VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:75:53:0:0:75:2513:287.06:159.23:127.83:1.00:1.00:1.00:60:247.5:1:0:58:78:9:chr2 g.92305633G>T (intergenic),chr2 g.92305633G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305635 rs62145613 A G 278 nt VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.9976,G/0.002396,T/.;NP=93 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:A,G:76:54:0:0:2,74:66,2465:0.00,277.66:0.00,148.41:0.00,129.25:0.00,1.00:0.00,1.00:0.00,1.00:24,60:238.5,245.7:0,1:0,0:54,59:81,76:8,9:chr2 g.92305634A>G (intergenic),chr2 g.92305634A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305653 rs62145614 G C 351 nt VT=SNV;PN=A;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=546 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:A,C,G:102:78:0:0:1,95,6:8,3161,194:0.03,351.32,0.00:-0.02,203.93,0.00:0.05,147.39,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:4,60,55:165.0,235.8,179.8:0,0,0:0,0,0:100,70,26:20,63,112:0,17,9:chr2 g.92305652G>C (intergenic),chr2 g.92305652G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305662 . A T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=108;NP=58 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,T:108:82:0:0:99,9:3300,296:0.00,20.45:0.00,13.70:0.00,6.75:0.00,0.95:0.00,0.99:0.00,0.98:60,60:228.0,255.8:0,0:0,0:79,89:54,54:18,14:-,chr2 g.92305661A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305670 rs79580152 T A 331 nt VT=SNV;PN=T;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=530 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,T:105:76:0:0:95,10:3002,317:330.82,0.00:177.08,0.00:153.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,56:234.9,194.3:0,0:0,0:87,33:46,95:17,17:chr2 g.92305669T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305677 rs200987610 A G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,G:113:84:0:1:104,9:3329,280:0.00,18.75:0.00,7.66:0.00,11.10:0.00,0.95:0.00,0.99:0.00,0.99:60,40:229.5,231.3:0,0:0,0:94,26:39,115:18,19:-,chr2 g.92305676A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305716 rs62145615 A C 62 nt VT=SNV;PN=G;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:64:45:0:0:43,21:1241,693:0.00,61.77:0.00,26.49:0.00,35.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:222.4,260.4:1,0:0,0:84,83:34,31:39,8:-,chr2 g.92305715A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305719 rs62145616 C T 140 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C,G,T:42:32:0:2:1,1,40:35,34,1230:0.00,2.25,139.73:0.00,1.12,71.52:0.00,1.12,68.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:56,31,60:168.0,300.0,235.6:0,0,0:0,0,0:56,44,81:34,107,55:0,0,12:chr2 g.92305718C>T (intergenic),chr2 g.92305718C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305722 rs62145642 T G 136 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:75:G,T:40:29:0:0:39,1:1201,34:136.47,0.00:68.39,0.00:68.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,56:232.8,211.0:0,1:0,0:84,119:53,2:13,0:chr2 g.92305721T>G (intergenic),chr2 g.92305721T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305726 rs62145643 G A 86 nt VT=SNV;PN=T;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:33:0:0:27,17:863,538:86.37,0.00:45.54,0.00:40.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,55:251.4,214.2:0,0:0,0:89,58:45,66:7,20:chr2 g.92305725G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305728 rs535128371 C A 71 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:42:30:0:0:23,18,1:726,533,32:71.34,0.00,1.87:39.00,0.00,-0.08:32.34,0.00,1.96:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,7:235.3,230.3,193.0:0,0,0:0,0,0:94,56,137:28,66,-31:6,22,0:chr2 g.92305727C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305733 rs186450863 A G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:42:31:0:0:38,4:1247,123:0.00,8.48:0.00,5.17:0.00,3.31:0.00,0.58:0.00,0.88:0.00,0.87:60,60:223.3,263.8:0,0:0,0:93,47:42,49:14,20:-,chr2 g.92305732A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305734 rs199549505 G C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,C,G,T:43:32:0:0:1,6,34,2:12,169,1085,61:-0.04,12.50,0.00,3.69:0.13,6.25,0.00,2.77:-0.17,6.25,0.00,0.92:0.00,0.87,0.00,0.00:0.00,0.97,0.00,0.00:0.00,0.97,0.00,0.00:38,45,60,40:197.0,232.5,221.7,221.5:0,0,0,0:0,0,0,0:79,58,98,61:37,75,36,64:0,19,10,1:chr2 g.92305733G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305742 rs565466804 T C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,G,T:41:31:0:0:3,1,37:100,11,1156:6.81,-0.13,0.00:4.49,0.07,0.00:2.32,-0.20,0.00:0.36,0.00,0.00:0.79,0.00,0.00:0.78,0.00,0.00:60,38,60:251.0,197.0,229.0:0,0,0:0,0,0:47,87,102:55,29,35:19,0,15:chr2 g.92305741T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305748 rs112749373 A G 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G:41:30:0:0:34,7:1039,234:0.00,18.61:0.00,10.15:0.00,8.46:0.00,0.94:0.00,0.99:0.00,0.99:60,60:227.6,245.4:0,0:0,0:109,53:27,43:12,23:-,chr2 g.92305747A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305754 rs62145644 A T 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:34:23:0:0:20,1,13:650,12,389:0.00,0.10,35.47:0.00,0.23,13.12:0.00,-0.13,22.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,19,51:213.3,299.0,260.4:0,0,0:0,0,0:80,122,119:40,21,21:28,0,3:-,chr2 g.92305753A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305770 rs77392791 G C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,G:29:18:0:0:5,24:172,831:13.80,0.00:8.57,0.00:5.23,0.00:0.80,0.00:0.92,0.00:0.95,0.00:60,43:247.8,239.1:0,0:0,0:75,130:27,9:22,12:chr2 g.92305769G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305771 . A T 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:30:20:0:0:27,3:875,96:0.00,6.80:0.00,3.47:0.00,3.33:0.00,0.43:0.00,0.78:0.00,0.82:60,31:232.1,299.3:0,0:0,0:101,139:26,4:32,7:-,chr2 g.92305770A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92305782 rs4338604 G C 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=241 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:C,G:17:12:0:0:16,1:530,34:58.96,0.00:25.99,0.00:32.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,31:231.9,300.0:0,0:0,0:92,107:36,44:20,0:chr2 g.92305781G>C (intergenic),chr2 g.92305781G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92305792 rs62145647 T A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=68 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G,T:16:10:0:0:5,5,6:156,128,178:14.49,11.68,0.00:4.64,7.49,0.00:9.85,4.19,0.00:0.99,0.00,0.00:0.96,0.00,0.00:0.98,0.00,0.00:45,60,43:242.0,260.0,229.7:0,0,0:0,0,0:90,116,119:37,5,30:24,32,13:chr2 g.92305791T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305796 rs62145648 T G 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=180 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:G,T:14:9:0:0:8,6:256,191:25.26,0.00:6.70,0.00:18.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:222.9,254.0:0,0:0,0:106,99:28,20:20,35:chr2 g.92305795T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305797 rs538112150 G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9946,C/0.005391;NP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,G:16:11:0:0:4,12:110,400:9.00,0.00:6.63,0.00:2.38,0.00:0.75,0.00:0.93,0.00:0.95,0.00:60,50:253.5,232.1:0,0:0,0:100,107:10,27:32,19:chr2 g.92305796G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305822 rs62145649 G A 12 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,G:7:4:0:0:4,3:126,80:12.44,0.00:1.09,0.00:11.35,0.00:0.90,0.00:0.97,0.00:0.99,0.00:45,43:227.2,285.7:0,1:0,0:120,145:9,5:12,2:chr2 g.92305821G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92305824 rs76506757 T G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:G,T:8:5:0:0:4,4:133,121:12.80,0.00:2.97,0.00:9.83,0.00:0.99,0.00:0.96,0.00:0.99,0.00:51,43:264.2,258.2:0,1:0,0:122,135:10,4:12,13:chr2 g.92305823T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92306053 rs2114028 C G 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9894,G/0.01058;NP=1;NP=1;NP=258 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,G:9:2:0:0:1,8:35,263:0.00,28.75:0.00,2.77:0.00,25.98:0.00,1.00:0.00,0.99:0.00,1.00:60,41:0.0,230.4:0,0:0,0:19,48:131,89:0,16:-,chr2 g.92306052C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306054 rs200583855 A C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,C:9:2:0:0:5,4:170,114:0.00,10.61:0.00,3.07:0.00,7.54:0.00,0.85:0.00,0.74:0.00,0.97:60,41:181.0,234.5:0,0:0,0:51,39:86,105:13,13:-,chr2 g.92306053A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306060 rs62145656 A G 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9934,G/0.006589;NP=139 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,G:9:2:0:0:1,8:33,229:0.00,25.33:0.00,2.77:0.00,22.56:0.00,1.00:0.00,0.99:0.00,1.00:60,41:0.0,230.4:0,0:0,0:26,55:124,82:0,16:-,chr2 g.92306059A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306072 rs62145658 C G 21 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9812,G/0.01877;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,C,G:9:2:0:0:1,1,7:12,34,189:0.72,0.00,20.75:-0.05,0.00,0.67:0.77,0.00,20.07:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:40,60,41:251.0,0.0,227.4:0,0,0:0,0,0:39,38,69:110,112,68:0,0,13:-,chr2 g.92306071C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306128 rs187712369 C G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:C,G:13:6:0:0:7,6:220,178:0.00,16.75:0.00,2.93:0.00,13.81:0.00,0.97:0.00,0.97:0.00,1.00:60,41:150.4,244.7:0,0:0,0:86,113:46,31:11,12:-,chr2 g.92306127C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306130 rs111843696 C G,T 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=138 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:90:C,G,T:14:7:0:0:1,4,9:35,114,299:0.00,10.98,32.02:0.00,4.95,6.62:0.00,6.02,25.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,41:0.0,180.0,232.1:0,0,0:0,0,0:96,82,107:54,39,43:0,7,20:chr2 g.92306129C>G (intergenic),chr2 g.92306129C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92306141 rs370987806 T A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:13:7:0:0:6,7:195,218:18.47,0.00:2.50,0.00:15.97,0.00:0.97,0.00:0.98,0.00:1.00,0.00:41,60:233.3,167.0:0,0:0,0:126,88:18,33:12,14:chr2 g.92306140T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92306160 rs62145659 G A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:9:6:0:0:3,6:89,196:7.84,0.00:1.77,0.00:6.07,0.00:0.64,0.00:0.42,0.00:0.92,0.00:41,60:269.3,145.7:0,1:0,0:132,112:19,19:5,11:chr2 g.92306159G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92306723 rs4087689 A C 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,C:14:13:0:0:2,12:66,407:0.00,43.93:0.00,40.44:0.00,3.49:0.00,1.00:0.00,1.00:0.00,0.98:40,27:271.0,238.2:0,0:0,0:15,22:128,126:4,13:-,chr2 g.92306722A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306733 rs28839799 A C 39 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:26:23:0:0:13,12,1:390,407,30:0.00,38.91,1.84:0.00,39.85,1.90:0.00,-0.94,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.92,0.00:39,42,40:209.0,260.2,270.0:0,0,0:0,0,0:9,13,21:141,137,130:8,5,0:-,chr2 g.92306732A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306740 rs62146376 T G 129 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G,T:37:34:0:1:36,1:1142,32:129.30,0.00:107.25,0.00:22.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,23:237.9,132.0:0,0:0,0:14,41:136,110:8,0:chr2 g.92306739T>G (intergenic),chr2 g.92306739T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92306745 rs62146377 C A 119 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=61 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,C:41:37:0:0:35,6:1099,205:119.13,0.00:92.37,0.00:26.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,43:235.3,240.8:1,0:0,0:19,19:131,126:8,16:chr2 g.92306744C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92306772 . T A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=92 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G,T:92:79:0:0:9,1,82:298,12,2615:21.35,-0.22,0.00:12.71,-0.26,0.00:8.64,0.04,0.00:0.96,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:58,22,60:229.3,278.0,199.4:0,0,2:0,0,0:15,44,28:114,107,111:2,0,15:chr2 g.92306771T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92306775 rs113400605 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:86:0:0:85,14:2859,422:0.00,31.46:0.00,23.45:0.00,8.01:0.00,1.00:0.00,1.00:0.00,1.00:60,58:197.8,237.6:2,0:0,0:27,18:108,109:18,4:-,chr2 g.92306774A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306788 rs201620737 A T 119 nt VT=SNV;PN=G;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:110:95:0:0:68,42:2215,1311:0.00,119.38:0.00,77.82:0.00,41.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:197.1,198.9:0,0:0,0:39,21:93,98:22,11:-,chr2 g.92306787A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306800 rs62146378 C T 455 nt VT=SNV;PN=C;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=NA;NP=281 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:119:104:0:0:1,118:33,4012:0.00,454.85:0.00,283.18:0.00,171.66:0.00,1.00:0.00,1.00:0.00,1.00:23,60:132.0,196.7:0,0:0,0:100,46:51,84:0,19:chr2 g.92306799C>T (intergenic),chr2 g.92306799C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92306804 . A C 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=115;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C:115:101:0:0:105,10:3506,332:0.00,23.28:0.00,18.28:0.00,5.00:0.00,0.97:0.00,1.00:0.00,0.99:60,58:196.7,190.6:0,0:0,0:54,43:79,80:21,10:-,chr2 g.92306803A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306807 rs201918695 C G 295 nt VT=SNV;PN=A;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;NP=72 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:114:100:0:0:28,81,5:925,2835,158:0.00,295.11,10.88:0.00,166.30,7.07:0.00,128.80,3.81:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:58,60,40:217.2,192.6,167.0:0,0,0:0,0,0:49,49,35:77,78,75:13,17,5:-,chr2 g.92306806C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306820 rs62146379 T A 333 nt VT=SNV;PN=G;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=393 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:117:102:0:0:95,22:3121,689:332.74,0.00:190.22,0.00:142.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,58:193.4,219.0:0,0:0,0:67,59:65,66:19,12:chr2 g.92306819T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92306839 rs111309172 G A 371 nt VT=SNV;PN=A;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=NA;NP=445 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:A,G:107:92:0:0:102,5:3314,147:371.20,0.00:218.49,0.00:152.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,41:191.7,213.2:0,0:0,0:81,94:46,36:17,32:chr2 g.92306838G>A (intergenic),chr2 g.92306838G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92306886 rs36068000 A G 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C,G:12:6:0:0:3,1,8:93,35,257:0.00,2.78,26.67:0.00,-0.08,12.75:0.00,2.86,13.93:0.00,0.00,1.00:0.00,0.00,0.93:0.00,0.00,0.93:32,40,51:272.0,274.0,274.4:0,0,0:0,0,0:141,120,117:9,20,28:6,0,9:-,chr2 g.92306885A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306888 rs201855975 A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:A,G:11:6:0:0:6,5:195,151:0.00,14.19:0.00,8.01:0.00,6.18:0.00,0.93:0.00,0.96:0.00,0.95:40,51:265.3,285.2:0,0:0,0:127,112:17,28:11,5:-,chr2 g.92306887A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306890 rs112775468 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,G,T:10:6:0:0:4,5,1:131,166,34:0.00,16.28,2.69:0.00,9.83,2.79:0.00,6.45,-0.09:0.00,0.95,0.00:0.00,0.98,0.00:0.00,0.51,0.00:40,51,32:269.0,285.2,292.0:0,0,0:0,0,0:129,114,124:15,26,27:11,5,0:-,chr2 g.92306889C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306893 rs371417046 G T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:G,T:10:6:0:0:5,5:160,158:0.00,15.17:0.00,9.02:0.00,6.15:0.00,0.95:0.00,0.98:0.00,0.51:40,51:273.6,285.2:0,0:0,0:127,117:13,23:11,5:-,chr2 g.92306892G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92306895 rs200771805 T A 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:5:0:0:9:277:31.96:16.45:15.51:1.00:1.00:1.00:51:277.1:0:0:129:21:10:chr2 g.92306894T>A (intergenic),chr2 g.92306894T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92307009 rs63749476 T A 14 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=50 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,T:9:8:0:0:5,4:143,109:14.00,0.00:12.84,0.00:1.16,0.00:0.96,0.00:1.00,0.00:0.96,0.00:29,60:223.6,83.2:0,0:0,0:20,26:100,85:19,20:chr2 g.92307008T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307027 rs6594184 G A 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,G:18:16:0:0:15,3:420,100:45.51,0.00:39.89,0.00:5.62,0.00:1.00,0.00:1.00,0.00:0.99,0.00:39,60:173.7,80.0:0,0:0,0:19,20:120,71:15,6:chr2 g.92307026G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307038 rs201705398 T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:35:30:0:0:5,30:147,962:10.89,0.00:4.49,0.00:6.40,0.00:0.98,0.00:0.97,0.00:0.81,0.00:27,60:208.8,187.4:0,0:0,0:10,22:132,114:7,12:chr2 g.92307037T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307047 rs199875652 T A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=4;NP=90 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,T:37:32:0:0:7,30:213,983:16.86,0.00:7.37,0.00:9.49,0.00:0.94,0.00:0.99,0.00:0.94,0.00:43,60:217.3,187.4:0,0:0,0:19,27:123,105:7,12:chr2 g.92307046T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307057 rs62146387 A G 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:34:0:0:25,14:818,472:0.00,42.82:0.00,28.78:0.00,14.04:0.00,1.00:0.00,1.00:0.00,1.00:60,43:181.9,221.5:0,0:0,0:34,26:95,108:15,8:-,chr2 g.92307056A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307096 rs200648814 G T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:39:35:0:0:31,8:929,281:0.00,23.34:0.00,9.39:0.00,13.96:0.00,1.00:0.00,1.00:0.00,0.95:51,43:193.9,223.2:0,0:0,0:68,70:69,67:16,9:-,chr2 g.92307095G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307098 rs112842987 T G 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:38:34:0:0:9,29:287,906:23.98,0.00:10.43,0.00:13.55,0.00:0.99,0.00:1.00,0.00:0.96,0.00:43,51:222.8,197.3:0,0:0,0:72,69:67,69:9,16:chr2 g.92307097T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307100 rs111279718 G C 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:38:34:0:0:12,26:385,820:33.92,0.00:30.01,0.00:3.92,0.00:1.00,0.00:1.00,0.00:0.99,0.00:51,43:198.0,213.2:0,0:0,0:84,68:55,67:14,12:chr2 g.92307099G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307109 rs62146389 T A 101 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,C,T:36:32:0:0:30,1,5:927,27,125:100.74,1.57,0.00:72.69,-0.05,0.00:28.05,1.63,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,31,29:218.3,224.0,163.2:0,0,0:0,0,0:80,84,82:63,63,40:14,0,14:chr2 g.92307108T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307112 rs111724621 T G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:39:35:0:0:1,9,29:10,256,900:-0.11,20.87,0.00:-0.00,18.46,0.00:-0.10,2.41,0.00:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.96,0.00:2,51,43:126.0,205.8,235.0:0,0,0:0,0,0:80,89,77:71,55,60:0,9,12:chr2 g.92307111T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307118 rs77204708 T G 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:38:34:0:0:1,13,24:33,395,752:1.92,35.26,0.00:0.87,19.18,0.00:1.05,16.08,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:16,43,51:166.0,225.1,224.9:0,0,0:0,0,0:91,91,86:31,47,64:0,8,17:chr2 g.92307117T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307119 rs200908600 A G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:38:34:0:0:22,1,15:722,21,481:0.00,0.78,44.39:0.00,0.85,35.29:0.00,-0.07,9.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:51,25,40:210.0,214.0,245.3:0,0,0:0,0,0:92,113,71:45,14,79:9,0,24:-,chr2 g.92307118A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307124 rs201746704 C A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.996,A/0.003994,T/.;NP=533 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C:38:34:0:0:4,34:108,1108:7.23,0.00:6.22,0.00:1.02,0.00:0.60,0.00:0.93,0.00:0.72,0.00:24,51:215.0,226.3:0,0:0,0:97,91:41,50:5,15:chr2 g.92307123C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307128 . A G 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;NP=44 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:38:34:0:0:33,5:1052,176:0.00,13.56:0.00,14.14:0.00,-0.58:0.00,0.77:0.00,0.97:0.00,0.80:51,40:218.5,282.6:0,0:0,0:98,23:42,124:13,2:-,chr2 g.92307127A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307149 rs80203930 T C 115 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1;NP=76 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:30:0:0:32:995:114.63:86.89:27.74:1.00:1.00:1.00:51:244.1:0:0:114:30:12:chr2 g.92307148T>C (intergenic),chr2 g.92307148T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92307151 rs201275037 T G 42 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:27:0:0:13,16:449,481:42.46,0.00:38.05,0.00:4.41,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,43:267.3,224.9:0,0:0,0:53,121:98,20:26,6:chr2 g.92307150T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307153 rs544626475 T G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:G,T:31:29:0:0:3,28:97,874:6.86,0.00:5.81,0.00:1.04,0.00:0.42,0.00:0.87,0.00:0.62,0.00:28,51:242.0,247.1:0,0:0,0:121,115:19,29:9,11:chr2 g.92307152T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307156 rs74954416 C G 105 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=664 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C,G,T:31:29:0:0:1,29,1:35,931,20:0.00,104.85,1.01:0.00,80.88,1.01:0.00,23.97,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,43,43:300.0,253.2,190.0:0,0,0:0,0,0:126,112,121:25,35,14:0,17,0:chr2 g.92307155C>G (intergenic),chr2 g.92307155C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92307176 rs77835727 A C 54 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:27:25:0:0:10,17:310,538:0.00,54.19:0.00,50.55:0.00,3.64:0.00,1.00:0.00,1.00:0.00,1.00:51,40:164.5,255.1:0,0:0,0:32,71:76,76:29,43:-,chr2 g.92307175A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307194 rs148810517 T A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,T:29:26:0:0:4,25:123,816:9.16,0.00:9.68,0.00:-0.52,0.00:0.65,0.00:0.94,0.00:0.78,0.00:40,51:262.5,201.3:0,0:0,0:92,45:56,60:10,27:chr2 g.92307193T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307195 rs6594186 G A,T 76 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=29;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:50:A,G,T:26:24:0:0:3,1,22:102,35,678:8.76,0.00,75.87:4.38,0.00,61.61:4.38,0.00,14.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,51,40:103.3,0.0,235.3:0,0,0:0,0,0:18,37,62:57,97,78:1,0,35:chr2 g.92307194G>A (intergenic),chr2 g.92307194G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92307214 rs75774927 A T 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,T:35:34:0:0:32,3:1043,99:0.00,6.89:0.00,3.07:0.00,3.81:0.00,0.40:0.00,0.87:0.00,0.64:51,40:184.9,115.7:0,0:0,0:47,38:91,38:33,6:-,chr2 g.92307213A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307228 rs146704943 G C 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=129;NP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:42:41:0:0:1,14,27:12,447,914:0.03,39.93,0.00:0.06,28.99,0.00:-0.04,10.93,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:22,40,51:248.0,260.9,107.5:0,0,0:0,0,0:130,61,25:21,89,126:0,22,19:chr2 g.92307227G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307256 rs77438151 C T 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=15;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:65:56:0:1:1,35,29:7,1176,881:-0.16,0.00,82.74:-0.13,0.00,45.74:-0.03,0.00,37.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:28,51,42:171.0,104.9,239.4:0,0,0:0,0,0:81,33,22:61,113,129:0,18,14:-,chr2 g.92307255C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307262 rs201217074 A T 65 nt VT=SNV;PN=G;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=4;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:67:56:0:0:43,24:1383,726:0.00,65.02:0.00,24.88:0.00,40.14:0.00,1.00:0.00,1.00:0.00,1.00:51,40:119.5,249.8:0,0:0,0:36,28:113,123:21,13:-,chr2 g.92307261A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307265 rs4087687 A G 38 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=250 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:59:0:0:56,14:1726,470:0.00,38.49:0.00,36.56:0.00,1.93:0.00,1.00:0.00,1.00:0.00,1.00:51,51:184.0,104.6:0,0:0,0:39,25:107,125:23,16:-,chr2 g.92307264A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307267 rs4087686 A G 194 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=59 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:61:0:0:11,61:363,1786:0.00,193.98:0.00,141.47:0.00,52.51:0.00,1.00:0.00,1.00:0.00,1.00:51,41:98.9,181.3:0,0:0,0:17,30:124,121:14,18:-,chr2 g.92307266A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307275 . A T 23 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=88 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G,T:88:75:0:0:77,1,10:2557,33,316:0.00,1.46,22.90:0.00,1.58,18.92:0.00,-0.12,3.98:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.97:51,41,43:151.9,62.0,274.3:0,0,0:0,0,0:32,8,4:116,143,140:17,0,3:-,chr2 g.92307274A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307279 rs149446853 A G 63 nt VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:93:79:0:0:69,23,1:2176,746,34:0.00,63.11,1.59:0.00,16.81,0.70:0.00,46.30,0.89:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,40,10:124.3,245.2,240.0:0,0,0:0,0,0:30,44,29:115,107,122:23,31,0:-,chr2 g.92307278A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307291 rs75822520 T G 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=2;NP=56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:G,T:109:94:0:0:10,99:327,3210:22.98,0.00:18.46,0.00:4.52,0.00:0.98,0.00:1.00,0.00:0.97,0.00:43,51:274.7,127.6:0,1:0,0:21,43:116,104:4,27:chr2 g.92307290T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307296 rs77372216 G A 70 nt VT=SNV;PN=A;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=1;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:115:97:0:0:27,75,13:826,2530,435:69.80,0.00,33.50:15.48,0.00,24.10:54.32,0.00,9.40:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,51,43:239.4,85.6,264.3:0,0,0:0,0,0:61,38,22:89,110,120:31,24,3:chr2 g.92307295G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307319 rs147401140 A C 64 nt VT=SNV;PN=A;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:152:126:0:0:127,25:3966,811:0.00,63.62:0.00,15.85:0.00,47.77:0.00,1.00:0.00,1.00:0.00,1.00:49,40:102.8,243.0:3,0:0,0:42,73:103,77:24,16:-,chr2 g.92307318A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307320 rs138418486 C T 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=403 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,D:154:128:0:1:8,119,2,24,1:267,3968,68,759,16:17.50,0.00,3.32,59.29,-0.08:10.61,0.00,0.62,13.05,-0.11:6.88,0.00,2.70,46.24,0.02:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:49,51,43,40,16:103.6,102.8,146.5,246.6,36.0:0,3,0,0,0:0,0,0,0,0:47,40,45,77,10:93,105,91,73,131:11,23,39,22,0:-,chr2 g.92307319C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307325 . T A 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=156 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,C,T:156:131:0:2:13,1,142:415,36,4556:28.33,1.49,0.00:17.89,0.70,0.00:10.44,0.79,0.00:0.99,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,33,51:267.5,250.0,106.0:0,0,1:0,0,0:51,45,46:93,93,98:4,0,29:chr2 g.92307324T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307326 . C T 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=157;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:157:131:0:2:1,137,19:34,4624,564:1.31,0.00,40.57:0.60,0.00,25.73:0.70,0.00,14.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,51,43:34.0,102.6,248.2:0,1,0:0,0,0:31,49,50:112,96,92:0,27,8:-,chr2 g.92307325C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307327 . A G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=156 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,C,G:156:130:0:0:141,1,14:4712,33,471:0.00,1.20,33.38:0.00,1.34,20.77:0.00,-0.14,12.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:49,36,43:107.1,135.0,271.6:1,0,0:0,0,0:50,45,55:94,106,90:30,0,4:-,chr2 g.92307326A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307333 rs111467603 T G 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=169;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,G,T:169:144:0:0:1,16,152:20,539,4806:0.05,38.60,0.00:0.19,23.67,0.00:-0.15,14.94,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,43,51:65.0,264.4,100.9:0,0,0:0,0,0:110,57,50:29,85,97:0,4,29:chr2 g.92307332T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307345 rs2864652 T A 60 nt VT=SNV;PN=C;NN=A;SST=Single;DP=179;DB;DBA=NA;PAF=NA;NP=90 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:179:151:0:0:25,154:790,5220:59.58,0.00:14.28,0.00:45.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,51:222.2,96.5:0,0:0,0:99,57:51,92:16,29:chr2 g.92307344T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307359 . CT C 52 nt VT=DEL;SST=Single;DP=189;NP=3;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,T,C:189:154:0:27:2,158,2,27:44,5275,45,720:1.27,0.00,1.37,51.79:-0.43,0.00,0.58,38.91:1.71,0.00,0.79,12.88:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:22,50,22,51:224.5,121.3,193.5,76.7:0,0,0,0:0,0,0,0:59,59,44,52:91,89,99,99:49,27,14,34:-,chr2 g.92307360delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307364 rs4085073 T C 85 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=186;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:186:148:0:0:5,33,2,146:172,1066,65,4893:10.02,85.22,2.85,0.00:6.11,58.45,-0.39,0.00:3.90,26.77,3.24,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,51,40,49:99.6,71.0,139.0,126.8:5,21,0,0:0,0,0,0:58,53,58,75:93,97,92,73:47,22,56,30:chr2 g.92307363T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307403 rs11491306 C A 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=181;DB;DBA=NA;PAF=C/0.9946,A/0.005391;NP=76 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:181:126:0:0:25,156:800,5324:60.38,0.00:12.26,0.00:48.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,50:245.8,89.0:0,0:0,0:127,83:15,63:7,27:chr2 g.92307402C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307420 rs113842593 T G 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=157;DB;DBA=NA;PAF=NA;NP=3;NP=79 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:157:106:0:0:1,24,132:9,758,4198:-0.30,58.22,0.00:-0.14,20.08,0.00:-0.16,38.14,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:22,42,51:162.0,225.7,76.2:0,0,2:0,0,0:123,79,84:28,60,65:0,18,27:chr2 g.92307419T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307451 . T A 25 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,T:136:73:0:0:12,124:373,4018:25.49,0.00:1.76,0.00:23.73,0.00:0.99,0.00:0.99,0.00:1.00,0.00:40,51:232.6,99.0:0,0:0,0:90,108:59,41:36,24:chr2 g.92307450T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307457 rs138965036 A G 31 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,G:133:63:0:0:120,13:3932,429:0.00,30.62:0.00,-0.01:0.00,30.63:0.00,1.00:0.00,0.99:0.00,1.00:51,41:97.7,206.4:0,0:0,0:113,81:37,66:20,33:-,chr2 g.92307456A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307480 rs113065238 C T 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:36:0:0:79,29:2476,919:0.00,78.46:0.00,17.60:0.00,60.86:0.00,1.00:0.00,1.00:0.00,1.00:51,41:92.9,218.1:0,0:0,0:115,125:36,20:24,17:-,chr2 g.92307479C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307498 rs1929375 C A,T 248 nt VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=113;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:155:A,C,T:76:13:0:0:9,1,66:315,35,2217:27.39,0.00,248.26:4.60,0.00,22.20:22.80,0.00,226.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,12,40:114.3,25.0,128.2:0,0,2:0,0,0:105,80,106:45,70,41:12,0,19:chr2 g.92307497C>A (intergenic),chr2 g.92307497C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92307508 rs373702776 C G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,G:74:10:0:0:66,8:2196,255:0.00,18.32:0.00,-0.35:0.00,18.67:0.00,0.94:0.00,0.61:0.00,1.00:40,36:111.8,225.8:0,0:0,0:115,102:34,29:18,8:-,chr2 g.92307507C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307535 rs564016488 C G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,G:49:3:0:0:43,6:1393,200:0.00,14.95:0.00,-0.14:0.00,15.10:0.00,0.85:0.00,0.38:0.00,0.99:40,28:118.4,236.7:0,0:0,0:130,124:19,9:12,5:-,chr2 g.92307534C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307537 rs370152834 T G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:C,G,T:45:3:0:0:1,7,37:33,234,1133:1.77,18.37,0.00:-0.02,-0.18,0.00:1.79,18.56,0.00:0.00,0.93,0.00:0.00,0.45,0.00:0.00,1.00,0.00:25,28,40:141.0,232.0,119.5:0,0,0:0,0,0:145,124,126:5,9,22:0,4,13:chr2 g.92307536T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307566 rs4323867 C G 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=708 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,C,G:13:4:0:0:1,1,11:10,34,339:0.44,0.00,37.53:0.44,0.00,3.84:0.00,0.00,33.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:24,55,40:158.0,0.0,154.0:0,0,0:0,0,0:101,22,137:12,128,6:0,0,11:-,chr2 g.92307565C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307720 rs139488860 T G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9862,G/0.01378;NP=279 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:G,T:7:4:0:0:6,1:166,33:18.17,0.00:7.82,0.00:10.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,55:265.3,0.0:0,0:0,0:29,53:90,98:2,0:chr2 g.92307719T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307734 rs201893403 C G 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=455 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,G:11:7:0:0:3,8:108,268:0.00,27.82:0.00,15.94:0.00,11.87:0.00,1.00:0.00,1.00:0.00,1.00:55,46:158.7,235.1:0,0:0,0:40,16:84,111:27,12:-,chr2 g.92307733C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307736 . A G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:17:12:0:0:13,4:396,119:0.00,9.79:0.00,4.26:0.00,5.53:0.00,0.74:0.00,0.93:0.00,0.93:55,40:210.1,258.5:0,0:0,0:18,45:109,74:15,6:-,chr2 g.92307735A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307737 . A G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:16:10:0:0:10,6:315,197:0.00,17.97:0.00,5.48:0.00,12.48:0.00,0.95:0.00,0.98:0.00,0.99:55,46:201.2,239.2:0,0:0,0:7,43:132,76:6,3:-,chr2 g.92307736A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307758 . G C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:18:0:0:7,21:230,621:19.52,0.00:7.34,0.00:12.18,0.00:0.96,0.00:0.98,0.00:0.99,0.00:46,55:254.1,202.8:0,0:0,0:65,21:47,127:3,8:chr2 g.92307757G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307759 . A C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,C:27:17:0:0:23,4:699,104:0.00,7.44:0.00,3.99:0.00,3.45:0.00,0.66:0.00,0.87:0.00,0.91:55,40:210.4,226.0:0,0:0,0:24,45:115,70:10,13:-,chr2 g.92307758A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307778 rs200764529 T G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:G,T:31:21:0:0:5,26:170,779:13.45,0.00:6.86,0.00:6.59,0.00:0.80,0.00:0.94,0.00:0.94,0.00:46,55:239.0,221.2:0,0:0,0:85,41:63,105:3,9:chr2 g.92307777T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307780 rs201939223 G C 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:31:21:0:0:13,18:439,555:40.96,0.00:24.93,0.00:16.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,55:241.7,208.6:0,0:0,0:37,46:108,76:7,10:chr2 g.92307779G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307789 rs62146430 T A 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:29:19:0:0:19,10:546,291:55.48,0.00:34.01,0.00:21.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,55:228.7,212.5:0,0:0,0:52,97:96,34:9,27:chr2 g.92307788T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307792 rs201142937 T G 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:29:19:0:0:1,12,16:12,365,499:0.15,33.89,0.00:-0.11,17.78,0.00:0.27,16.10,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:10,40,55:270.0,237.2,202.7:0,0,0:0,0,0:47,52,58:104,94,64:0,11,9:chr2 g.92307791T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307798 rs62146431 T G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:G,T:27:17:0:0:6,21:187,609:15.36,0.00:7.07,0.00:8.29,0.00:0.91,0.00:0.96,0.00:0.73,0.00:40,55:256.7,205.9:0,0:0,0:84,58:45,87:23,8:chr2 g.92307797T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307799 rs199950433 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,G:28:18:0:0:22,6:666,181:0.00,14.66:0.00,5.02:0.00,9.64:0.00,0.91:0.00,0.97:0.00,0.97:55,40:223.5,222.0:0,0:0,0:63,61:72,87:13,6:-,chr2 g.92307798A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307804 . C A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;NP=258 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,C:26:16:0:0:4,22:134,688:10.47,0.00:2.18,0.00:8.29,0.00:0.67,0.00:0.87,0.00:0.88,0.00:40,55:277.2,211.5:0,0:0,0:112,67:31,81:6,9:chr2 g.92307803C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307831 rs77166688 T G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:G,T:26:17:0:0:6,20:173,639:14.07,0.00:5.08,0.00:9.00,0.00:0.91,0.00:0.97,0.00:0.97,0.00:40,40:210.8,236.1:0,0:0,0:89,96:55,40:2,13:chr2 g.92307830T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307833 rs76700557 A G,T 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.9952,G/.,T/0.004792;NP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:A,G,T:24:15:0:0:3,11,10:101,304,337:0.00,31.08,33.96:0.00,17.79,13.77:0.00,13.29,20.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:31,40,40:185.3,234.7,238.3:0,0,0:0,0,0:87,96,102:63,52,39:1,17,9:chr2 g.92307832A>G (intergenic),chr2 g.92307832A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92307846 rs113723350 A G 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:19:12:0:1:8,10,1:228,294,13:0.00,28.79,0.41:0.00,15.95,0.50:0.00,12.85,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,30:202.9,250.8,164.0:0,0,0:0,0,0:108,106,129:40,42,18:7,10,0:-,chr2 g.92307845A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307856 rs112344531 A C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,C:21:14:0:0:4,17:111,464:0.00,49.97:0.00,29.79:0.00,20.18:0.00,1.00:0.00,1.00:0.00,1.00:31,40:176.5,240.4:0,0:0,0:119,116:25,32:8,6:-,chr2 g.92307855A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307869 rs35640814 G T 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:G,T:17:11:0:0:2,15:45,480:0.00,52.54:0.00,30.48:0.00,22.07:0.00,1.00:0.00,1.00:0.00,1.00:20,40:139.0,236.0:0,0:0,0:132,126:12,23:7,6:-,chr2 g.92307868G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307877 rs369560846 C T 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:11:0:0:9,9:279,248:0.00,23.60:0.00,15.59:0.00,8.01:0.00,1.00:0.00,1.00:0.00,1.00:40,40:198.0,264.8:0,0:0,0:134,131:15,18:3,9:-,chr2 g.92307876C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92307890 rs373284554 T G 14 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:G,T:10:7:0:0:5,5:149,141:14.27,0.00:13.28,0.00:0.98,0.00:0.95,0.00:0.99,0.00:0.51,0.00:12,31:270.8,225.0:0,0:0,0:136,145:8,6:8,1:chr2 g.92307889T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307976 rs74905504 G A 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:3:A,G,T:10:8:0:0:6,2,2:194,69,68:20.13,0.00,6.16:13.72,0.00,4.62:6.41,0.00,1.54:0.99,0.00,0.00:1.00,0.00,0.00:0.78,0.00,0.00:53,31,9:195.3,92.0,236.5:0,0,0:0,0,0:12,9,11:117,128,118:8,2,3:chr2 g.92307975G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92307999 rs77982932 A C 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=76 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,C:14:12:0:0:8,6:239,185:0.00,17.20:0.00,11.04:0.00,6.17:0.00,0.96:0.00,1.00:0.00,0.69:42,53:220.8,190.3:0,0:0,0:25,32:108,95:7,11:-,chr2 g.92307998A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308000 rs76415761 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:14:12:0:0:8,6:263,186:0.00,17.29:0.00,11.12:0.00,6.17:0.00,0.96:0.00,1.00:0.00,0.69:42,53:216.2,195.2:0,0:0,0:26,36:107,93:7,8:-,chr2 g.92307999C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308005 rs376015019 T A 21 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:14:12:0:0:7,7:214,229:20.52,0.00:18.55,0.00:1.97,0.00:1.00,0.00:0.98,0.00:0.99,0.00:42,53:242.1,173.3:0,0:0,0:27,37:90,90:10,8:chr2 g.92308004T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308006 rs199803418 C T 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:12:0:0:7,7:223,222:0.00,21.34:0.00,18.90:0.00,2.44:0.00,1.00:0.00,0.98:0.00,0.99:53,42:173.3,240.0:0,0:0,0:38,28:89,89:8,10:-,chr2 g.92308005C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308007 rs201380488 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:12:0:0:7,7:235,198:0.00,18.87:0.00,16.35:0.00,2.52:0.00,1.00:0.00,0.98:0.00,0.99:53,42:177.4,242.1:0,0:0,0:41,29:88,88:5,10:-,chr2 g.92308006A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308013 rs4311943 T G 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=45 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:17:14:0:0:9,8:274,259:26.58,0.00:19.81,0.00:6.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,53:220.4,150.8:0,0:0,0:35,44:83,88:14,7:chr2 g.92308012T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308025 rs77841323 T A 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=631 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,T:17:14:0:1:5,12:145,381:12.40,0.00:7.18,0.00:5.22,0.00:0.88,0.00:0.98,0.00:0.96,0.00:40,42:214.0,195.3:0,0:0,0:64,44:70,88:7,15:chr2 g.92308024T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308063 rs62146435 A C 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=415 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:20:17:0:0:8,12:237,351:0.00,34.90:0.00,23.95:0.00,10.95:0.00,1.00:0.00,1.00:0.00,1.00:53,42:159.0,218.7:0,0:0,0:96,74:33,65:8,18:-,chr2 g.92308062A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308093 rs62146436 A G 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:16:13:0:0:13,3:410,92:0.00,7.28:0.00,2.33:0.00,4.95:0.00,0.54:0.00,0.88:0.00,0.85:42,40:191.5,232.3:0,0:0,0:98,125:35,25:26,2:-,chr2 g.92308092A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308098 rs75879973 T A 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:A,T:12:7:0:0:10,2:286,68:30.90,0.00:11.23,0.00:19.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,41:240.9,51.5:0,0:0,0:101,109:34,15:23,20:chr2 g.92308097T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308100 rs74868319 T G 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:G,T:12:7:0:0:10,2:319,66:34.32,0.00:14.75,0.00:19.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,41:241.1,51.5:0,0:0,0:103,111:32,13:23,20:chr2 g.92308099T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308101 rs200317278 C G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,G,T:12:7:0:0:5,6,1:164,188,10:0.00,18.35,0.31:0.00,11.87,0.48:0.00,6.48,-0.17:0.00,0.98,0.00:0.00,0.99,0.00:0.00,1.00,0.00:41,41,4:159.6,239.3,276.0:0,0,0:0,0,0:132,89,118:17,37,32:3,22,0:-,chr2 g.92308100C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308102 rs78835956 T C 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,T:12:7:0:0:10,2:305,68:32.88,0.00:12.75,0.00:20.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,41:241.1,50.5:0,0:0,0:105,113:30,11:23,20:chr2 g.92308101T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308108 rs199736807 T G 8 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:G,T:11:6:0:0:3,8:96,247:8.24,0.00:-0.61,0.00:8.85,0.00:0.60,0.00:0.83,0.00:0.89,0.00:40,41:232.3,223.4:0,0:0,0:140,111:10,26:2,23:chr2 g.92308107T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308131 rs367999834 T A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,T:5:4:0:0:4,1:124,21:13.22,0.00:5.76,0.00:7.46,0.00:0.96,0.00:1.00,0.00:0.99,0.00:41,1:240.8,294.0:0,0:0,0:119,136:7,15:21,0:chr2 g.92308130T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308460 rs200146538 G C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:C,G:16:13:0:0:6,10:191,310:17.37,0.00:14.53,0.00:2.84,0.00:0.95,0.00:0.99,0.00:0.95,0.00:40,60:275.0,233.5:0,0:0,0:18,20:123,130:7,7:chr2 g.92308459G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308469 rs78202416 T A 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,T:18:15:0:0:16,2:518,65:56.70,0.00:37.31,0.00:19.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,24:255.4,114.0:0,0:0,0:28,14:116,136:9,9:chr2 g.92308468T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308472 rs200237809 T G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:G,T:19:16:0:0:6,13:173,420:15.00,0.00:12.32,0.00:2.69,0.00:0.94,0.00:0.99,0.00:0.93,0.00:40,60:275.0,225.7:0,0:0,0:30,27:111,118:7,8:chr2 g.92308471T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308478 rs75697250 T G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:G,T:22:18:0:0:4,18:132,565:10.58,0.00:7.09,0.00:3.49,0.00:0.70,0.00:0.94,0.00:0.86,0.00:30,60:230.2,238.4:0,0:0,0:20,34:110,107:13,12:chr2 g.92308477T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308479 rs76761617 A G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:18:0:0:15,8:443,279:0.00,25.27:0.00,12.46:0.00,12.81:0.00,0.99:0.00,1.00:0.00,0.99:40,60:226.2,262.2:0,0:0,0:33,33:108,113:11,17:-,chr2 g.92308478A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308511 rs200411840 T G 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:24:19:0:0:9,15:278,470:25.19,0.00:9.25,0.00:15.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,53:235.8,214.2:0,0:0,0:60,54:83,79:22,16:chr2 g.92308510T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308513 rs62146447 A G,T 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:25:A,G,T:26:21:0:0:6,7,13:178,200,448:0.00,18.52,45.30:0.00,14.19,21.31:0.00,4.34,23.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:53,40,60:124.7,247.0,243.9:0,0,0:0,0,0:6,67,49:116,70,80:4,11,13:chr2 g.92308512A>G (intergenic),chr2 g.92308512A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92308524 rs74975019 T G 10 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:G,T:25:20:0:0:4,21:131,695:10.24,0.00:2.32,0.00:7.91,0.00:0.67,0.00:0.93,0.00:0.92,0.00:41,60:275.8,206.5:5,0:0,0:46,67:66,67:3,16:chr2 g.92308523T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308526 rs113044543 A G 16 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,G,D:22:18:0:27:15,6,1:503,185,7:0.00,15.90,-0.12:0.00,12.37,-0.15:0.00,3.53,0.03:0.00,0.93,0.00:0.00,0.99,0.00:0.00,0.98,0.00:60,40,7:183.7,257.3,273.0:0,0,1:0,0,0:72,81,89:70,57,61:15,8,0:-,chr2 g.92308525A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308530 . G C 8 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:C,G,I:27:22:1:0:3,23,1:105,813,7:7.89,0.00,-0.23:2.41,0.00,-0.21:5.48,0.00,-0.02:0.44,0.00,0.00:0.84,0.00,0.00:0.83,0.00,0.00:41,60,7:276.7,216.6,273.0:3,0,1:0,0,0:50,79,91:64,60,59:3,14,0:chr2 g.92308529G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308536 rs4491113 A C 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:28:23:0:0:14,13,1:427,433,34:0.00,41.39,2.21:0.00,24.01,-0.12:0.00,17.39,2.33:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:53,60,41:178.5,263.2,252.0:0,0,0:0,0,0:54,90,95:65,47,55:26,16,0:-,chr2 g.92308535A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308540 rs80184623 T A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,T:25:20:0:0:4,21:135,633:10.64,0.00:2.04,0.00:8.60,0.00:0.67,0.00:0.93,0.00:0.91,0.00:41,60:275.8,209.1:0,0:0,0:61,75:51,54:3,22:chr2 g.92308539T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308543 rs75744803 T A 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,T:25:20:0:0:4,21:117,688:8.85,0.00:2.08,0.00:6.76,0.00:0.67,0.00:0.93,0.00:0.91,0.00:41,60:275.8,200.8:0,0:0,0:64,81:48,48:3,21:chr2 g.92308542T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308549 rs79955620 G T 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:22:0:0:7,20:241,624:0.00,65.18:0.00,36.19:0.00,29.00:0.00,1.00:0.00,1.00:0.00,1.00:53,60:116.9,250.6:0,0:0,0:43,96:75,39:19,13:-,chr2 g.92308548G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308554 rs201319045 T A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:21:0:0:8,18:242,612:21.04,0.00:4.80,0.00:16.24,0.00:0.98,0.00:1.00,0.00:1.00,0.00:60,53:261.1,198.3:0,0:0,0:91,89:38,43:18,20:chr2 g.92308553T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308557 . C T 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:C,T:29:24:0:0:23,6:792,191:0.00,15.54:0.00,12.66:0.00,2.88:0.00,0.90:0.00,0.99:0.00,0.99:60,40:217.8,271.2:0,0:0,0:77,105:56,26:29,7:-,chr2 g.92308556C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308567 rs74781440 G A 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:26:21:0:0:5,21:142,687:11.08,0.00:3.68,0.00:7.40,0.00:0.82,0.00:0.97,0.00:0.97,0.00:41,60:279.8,215.5:0,0:0,0:87,105:27,24:3,21:chr2 g.92308566G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308570 . T G 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:G,T:27:22:0:0:5,22:174,741:14.17,0.00:12.03,0.00:2.13,0.00:0.82,0.00:0.97,0.00:0.97,0.00:40,60:292.4,209.8:0,0:0,0:124,91:13,38:7,32:chr2 g.92308569T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308597 rs9677981 C A,T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=34;NP=64 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:33:A,C,T:14:10:0:0:11,1,2:336,34,64:36.98,0.00,5.60:12.58,0.00,1.53:24.40,0.00,4.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,53,27:208.8,85.0,146.5:0,0,0:0,0,0:53,91,71:88,59,78:34,0,19:chr2 g.92308596C>A (intergenic),chr2 g.92308596C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92308628 rs4515860 G T 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:15:5:0:0:6,9:201,269:0.00,26.74:0.00,2.71:0.00,24.03:0.00,1.00:0.00,0.78:0.00,1.00:40,52:178.7,225.9:0,0:0,0:89,74:40,66:21,27:-,chr2 g.92308627G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308650 rs11490634 C A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=398 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,C,G:11:3:0:0:7,3,1:238,104,35:24.45,0.00,2.81:5.35,0.00,-0.02:19.10,0.00,2.83:1.00,0.00,0.00:0.96,0.00,0.00:1.00,0.00,0.00:52,40,15:203.4,180.3,276.0:0,0,0:0,0,0:79,117,81:45,33,45:11,22,0:chr2 g.92308649C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308652 rs199946635 G A 21 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:12:4:0:0:7,5:210,169:20.79,0.00:0.72,0.00:20.07,0.00:0.99,0.00:0.97,0.00:1.00,0.00:52,55:209.0,159.4:0,0:0,0:83,97:43,53:12,27:chr2 g.92308651G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308663 . A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:11:3:0:0:7,4:206,132:0.00,11.98:0.00,-0.49:0.00,12.47:0.00,0.82:0.00,0.76:0.00,0.97:55,40:205.3,178.0:0,0:0,0:108,87:32,32:22,5:-,chr2 g.92308662A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308958 rs75833705 G T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8738,C/0.1262,T/.;NP=23;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,G,T:5:5:0:0:1,1,3:34,35,89:3.08,0.00,9.27:3.13,0.00,5.86:-0.05,0.00,3.41:0.00,0.00,0.78:0.00,0.00,0.78:0.00,0.00,0.94:22,50,40:268.0,33.0,192.7:0,0,0:0,0,0:25,90,43:126,59,53:0,0,3:-,chr2 g.92308957G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308966 rs79261166 T G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:G,T:5:5:0:0:3,2:75,71:7.35,0.00:3.99,0.00:3.36,0.00:0.78,0.00:0.78,0.00:0.97,0.00:40,50:192.7,150.5:0,0:0,0:51,65:45,84:3,32:chr2 g.92308965T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92308977 rs74850486 A T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,T:5:5:0:0:2,3:68,97:0.00,9.67:0.00,6.31:0.00,3.36:0.00,0.78:0.00,0.78:0.00,0.97:58,40:152.5,192.7:0,0:0,0:51,62:99,34:7,3:-,chr2 g.92308976A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92308993 rs76631838 T A,G 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,G,T:5:5:0:0:1,3,1:34,81,34:3.08,8.43,0.00:1.54,4.83,0.00:1.54,3.61,0.00:0.00,0.78,0.00:0.00,0.78,0.00:0.00,0.97,0.00:22,40,58:268.0,187.7,37.0:0,0,0:0,0,0:60,78,75:91,18,76:0,3,0:chr2 g.92308992T>A (intergenic),chr2 g.92308992T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92308998 rs78393969 G T 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=109 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,T:5:5:0:0:2,3:72,100:0.00,9.97:0.00,6.81:0.00,3.16:0.00,0.78:0.00,0.78:0.00,0.97:58,40:152.5,191.7:0,0:0,0:72,83:78,13:7,3:-,chr2 g.92308997G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92309035 rs368620378 T G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:G,T:8:7:0:0:5,3:134,96:13.48,0.00:14.12,0.00:-0.64,0.00:0.97,0.00:1.00,0.00:0.88,0.00:36,58:233.8,140.3:0,0:0,0:19,102:116,49:3,15:chr2 g.92309034T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309085 rs74347967 A C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,C:7:6:0:0:3,4:99,128:0.00,12.63:0.00,13.18:0.00,-0.55:0.00,0.90:0.00,0.99:0.00,0.85:40,36:195.7,232.8:0,0:0,0:57,68:64,67:14,2:-,chr2 g.92309084A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92309105 rs552936364 C A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.862,A/0.138;NP=68 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C:7:6:0:0:4,3:103,101:10.08,0.00:10.63,0.00:-0.55,0.00:0.90,0.00:0.99,0.00:0.85,0.00:36,40:232.8,195.7:0,0:0,0:88,77:47,44:2,14:chr2 g.92309104C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309120 . T A 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,T:8:8:0:0:3,5:89,146:8.05,0.00:8.35,0.00:-0.31,0.00:0.67,0.00:0.67,0.00:0.78,0.00:36,41:274.0,134.0:0,2:0,0:104,78:31,32:3,36:chr2 g.92309119T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309122 rs80055682 T G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:10:G,T:8:8:0:0:7,1:189,24:20.82,0.00:17.35,0.00:3.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,23:206.9,116.0:2,0:0,0:93,94:30,34:13,0:chr2 g.92309121T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309123 rs75016418 C G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,G,D:8:8:0:1:4,3,1:133,84,7:0.00,7.74,0.14:0.00,8.04,0.23:0.00,-0.31,-0.09:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.78,0.00:41,36,7:140.2,274.0,109.0:0,0,1:0,0,0:47,107,106:45,28,29:35,3,0:-,chr2 g.92309122C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92309124 . T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:7:7:0:1:3,4:75,137:6.83,0.00:7.19,0.00:-0.36,0.00:0.69,0.00:0.69,0.00:0.83,0.00:36,41:274.0,145.8:0,0:0,0:108,48:27,44:3,35:chr2 g.92309123T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309153 . T A 9 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:8:7:0:0:4,4:100,119:9.48,0.00:10.08,0.00:-0.60,0.00:0.99,0.00:0.99,0.00:0.89,0.00:36,41:232.8,109.5:0,0:0,0:136,84:-1,19:2,42:chr2 g.92309152T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309159 . A G,AC 12 sb;end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;NP=3;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:42:G,AC:6:6:2:0:4,2:108,45:11.98,4.49:11.98,2.25:0.00,2.25:0.93,0.00:0.93,0.00:0.91,0.00:36,41:232.8,150.5:1,0:0,0:142,48:-7,41:2,2:chr2 g.92309158A>G (intergenic),chr2 g.92309159_92309160insC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309160 rs372236462 T A 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=7;NP=78 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:A,T,I:6:6:1:0:2,3,1:69,68,21:6.38,0.00,1.57:2.93,0.00,1.57:3.45,0.00,0.00:0.42,0.00,0.00:0.42,0.00,0.00:0.63,0.00,0.00:41,24,36:150.5,222.3,264.0:2,0,0:0,0,0:50,144,131:39,-9,20:2,2,0:chr2 g.92309159T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309450 rs10192074 T G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1516,A/.,G/0.8484;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:150:17.36:17.36:0.00:1.00:1.00:0.00:40:278.0:0:0:23:118:18:chr2 g.92309449T>G (intergenic),chr2 g.92309449T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309458 rs76199254 A G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:197:22.56:22.56:0.00:1.00:1.00:0.00:40:273.2:0:0:22:111:12:chr2 g.92309457A>G (intergenic),chr2 g.92309457A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309460 rs76942866 C G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:180:20.85:20.85:0.00:1.00:1.00:0.00:40:273.2:0:0:24:109:12:chr2 g.92309459C>G (intergenic),chr2 g.92309459C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309477 rs62146458 C G 114 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.77,G/0.23;NP=80 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:25:0:0:33:988:114.45:78.82:35.63:1.00:1.00:1.00:44:239.9:0:0:16:129:7:chr2 g.92309476C>G (intergenic),chr2 g.92309476C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309492 rs62146459 G A 152 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.5246,A/0.4754,C/.;NP=176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A,G:45:35:0:0:43,2:1352,72:152.15,0.00:103.58,0.00:48.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,44:243.2,148.5:0,0:0,0:24,36:125,73:10,1:chr2 g.92309491G>A (intergenic),chr2 g.92309491G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309496 rs62147160 A G 204 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.5246,G/0.4754;NP=201 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:41:0:0:53:1787:203.98:133.30:70.67:1.00:1.00:1.00:59:236.2:0:0:26:122:13:chr2 g.92309495A>G (intergenic),chr2 g.92309495A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309553 rs62147161 C A 413 nt VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=166 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:113:80:0:0:112,1:3621,32:412.93,0.00:220.59,0.00:192.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,3:224.9,102.0:0,0:0,0:56,10:91,58:23,0:chr2 g.92309552C>A (intergenic),chr2 g.92309552C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309558 rs79171402 T G 449 nt VT=SNV;PN=A;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:116:81:0:0:116:3933:448.53:237.78:210.75:1.00:1.00:1.00:60:224.6:0:0:60:88:23:chr2 g.92309557T>G (intergenic),chr2 g.92309557T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309574 rs78700571 C G 481 nt VT=SNV;PN=T;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=117 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:128:86:0:0:2,126:49,4257:0.00,481.42:0.00,238.73:0.00,242.69:0.00,1.00:0.00,1.00:0.00,1.00:40,60:190.0,221.4:0,0:0,0:105,66:19,81:23,26:chr2 g.92309573C>G (intergenic),chr2 g.92309573C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309576 rs62147162 T G 475 nt VT=SNV;PN=A;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=NA;NP=133 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:135:89:0:0:1,129,5:31,4224,90:1.42,475.18,0.00:0.71,232.46,0.00:0.71,242.72,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,60,52:233.0,222.1,193.2:0,0,0:0,0,0:120,68,83:-1,80,68:0,28,48:chr2 g.92309575T>G (intergenic),chr2 g.92309575T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309615 rs76956840 GT G 380 nt VT=DEL;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=873;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:147:GT,G:145:85:0:139:7,138:220,3288:0.00,379.95:0.00,165.18:0.00,214.77:0.00,1.00:0.00,1.00:0.00,1.00:55,60:223.4,209.5:0,0:0,0:147,82:2,64:2,34:chr2 g.92309616delT (intergenic),chr2 g.92309616delT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309625 rs76222286 T C 465 nt VT=SNV;PN=T;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=T/0.522,C/0.478;NP=1138 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:140:82:0:0:1,134,5:11,4103,100:0.08,464.99,0.00:-0.01,202.81,0.00:0.09,262.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,60,59:124.0,210.4,176.0:0,0,0:0,0,0:38,89,125:105,56,25:0,32,6:chr2 g.92309624T>C (intergenic),chr2 g.92309624T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309637 rs62147163 C A 481 nt VT=SNV;PN=C;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=NA;NP=1133 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:129:74:0:0:127,1,1:4233,33,13:481.08,0.00,0.16:192.63,0.00,0.16:288.45,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,56,58:201.7,35.0,161.0:0,0,0:0,0,0:83,47,131:64,73,19:32,0,0:chr2 g.92309636C>A (intergenic),chr2 g.92309636C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309680 rs62147164 T C 320 nt VT=SNV;PN=A;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=857 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:86:50:0:0:85,1:2821,34:320.16,0.00:139.22,0.00:180.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,56:198.8,35.0:0,0:0,0:104,90:40,30:20,0:chr2 g.92309679T>C (intergenic),chr2 g.92309679T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309703 rs199792844 T C 201 nt VT=SNV;PN=T;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=173 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:44:0:0:57,17:1912,547:201.05,0.00:86.16,0.00:114.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,60:187.8,197.9:0,0:0,0:117,77:24,30:14,57:chr2 g.92309702T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309712 rs149747451 G A 184 nt VT=SNV;PN=T;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:67:37:0:0:54,12,1:1722,389,11:184.38,0.00,0.10:59.82,0.00,0.13:124.56,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,60,52:183.0,183.6,105.0:0,0,0:0,0,0:122,29,150:18,82,1:15,17,0:chr2 g.92309711G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309716 rs113772099 A C 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=68 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,C:58:33:0:0:50,8:1589,275:0.00,21.21:0.00,14.21:0.00,7.00:0.00,0.95:0.00,0.97:0.00,0.99:57,60:174.4,214.6:0,0:0,0:125,36:14,90:14,7:-,chr2 g.92309715A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92309737 rs201213189 C A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=55 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,C,T:15:14:0:0:3,11,1:103,367,34:8.57,0.00,2.37:4.04,0.00,1.11:4.53,0.00,1.26:0.55,0.00,0.00:0.92,0.00,0.00:0.82,0.00,0.00:34,60,56:224.0,145.2,275.0:0,0,0:0,0,0:54,50,51:85,95,60:11,25,0:chr2 g.92309736C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309741 rs374039050 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,G,T:17:14:0:0:13,3,1:453,85,33:0.00,6.58,2.21:0.00,2.35,2.34:0.00,4.23,-0.13:0.00,0.53,0.00:0.00,0.88,0.00:0.00,0.83,0.00:60,30,28:161.8,216.3,236.0:0,0,0:0,0,0:54,73,29:60,78,121:19,17,0:-,chr2 g.92309740C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92309742 rs201926091 T C 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:C,T:18:15:0:0:3,15:103,467:8.22,0.00:5.48,0.00:2.74,0.00:0.52,0.00:0.88,0.00:0.83,0.00:56,60:170.0,178.2:1,0:0,0:56,59:55,77:3,23:chr2 g.92309741T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309775 rs145592633 T C 13 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:C,T:24:15:0:0:7,17:162,551:13.20,0.00:-1.57,0.00:14.77,0.00:0.97,0.00:0.98,0.00:0.99,0.00:42,60:259.7,181.1:0,0:0,0:42,83:90,41:11,20:chr2 g.92309774T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309798 rs62147165 T G 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:19:11:0:0:1,10,8:36,304,228:2.61,29.77,0.00:1.26,2.99,0.00:1.35,26.79,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,42,60:174.0,254.0,119.1:0,0,0:0,0,0:115,69,77:-6,59,67:0,16,8:chr2 g.92309797T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309805 rs376686778 T G 15 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:G,T:19:12:0:0:7,12:175,359:15.39,0.00:-1.79,0.00:17.18,0.00:0.98,0.00:0.99,0.00:0.99,0.00:42,51:259.7,171.2:0,0:0,0:72,89:60,54:11,22:chr2 g.92309804T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309806 rs369976399 T G 17 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:G,T:17:10:0:0:7,10:184,278:16.75,0.00:-1.81,0.00:18.56,0.00:0.98,0.00:0.99,0.00:0.99,0.00:42,51:259.7,156.1:0,0:0,0:73,84:59,64:11,8:chr2 g.92309805T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309820 rs7579408 C G 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=50 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:6:0:0:13:432:49.40:19.32:30.08:1.00:1.00:1.00:42:191.4:0:0:92:51:14:chr2 g.92309819C>G (intergenic),chr2 g.92309819C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92309836 rs11490016 T C 21 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,D:13:5:0:1:6,6,1:215,199,26:20.73,0.00,1.76:-0.94,0.00,1.85:21.68,0.00,-0.09:0.97,0.00,0.00:0.95,0.00,0.00:0.99,0.00,0.00:42,34,28:253.7,140.7,236.0:0,0,0:0,0,0:98,112,124:37,39,26:7,3,0:chr2 g.92309835T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92309847 rs148296848 C G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,C,G:13:5:0:0:1,8,4:11,277,139:0.28,0.00,12.48:0.43,0.00,-0.56:-0.16,0.00,13.04:0.00,0.00,0.79:0.00,0.00,0.83:0.00,0.00,0.94:17,42,40:132.0,180.4,268.2:0,0,0:0,0,0:125,126,109:26,23,26:0,11,5:-,chr2 g.92309846C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92309858 rs62147166 C T 23 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:4:0:0:6,7:192,234:0.00,22.84:0.00,-1.34:0.00,24.19:0.00,0.99:0.00,0.96:0.00,1.00:34,42:134.3,256.6:0,0:0,0:136,115:14,24:3,10:-,chr2 g.92309857C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92310006 rs141536772 C A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=609 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,C:7:0:0:0:4,3:127,107:12.53,0.00:0.00,0.00:12.53,0.00:0.90,0.00:0.00,0.00:0.90,0.00:44,28:229.8,112.7:0,0:0,0:48,56:99,95:15,2:chr2 g.92310005C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92310051 rs4350255 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=515;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:10:0:0:0:4,6:114,209:0.00,20.85:0.00,0.00:0.00,20.85:0.00,0.99:0.00,0.00:0.00,0.99:34,44:112.5,227.3:0,0:0,0:100,77:51,72:22,32:-,chr2 g.92310050C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92310062 rs148935275 A G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=321 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,G:9:0:0:0:4,5:131,173:0.00,17.00:0.00,0.00:0.00,17.00:0.00,0.96:0.00,0.00:0.00,0.96:34,44:138.5,238.0:0,0:0,0:78,96:72,53:33,16:-,chr2 g.92310061A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92310079 rs111576362 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=171 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,G:11:0:0:0:5,6:153,167:0.00,16.26:0.00,0.00:0.00,16.26:0.00,0.98:0.00,0.00:0.00,0.98:34,44:165.8,222.5:0,0:0,0:64,105:86,44:55,33:-,chr2 g.92310078C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92310096 rs200029724 T C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=183 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,T:10:0:0:0:4,6:137,177:12.69,0.00:0.00,0.00:12.69,0.00:0.84,0.00:0.00,0.00:0.84,0.00:44,37:214.8,173.3:0,0:0,0:86,77:63,73:36,46:chr2 g.92310095T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92310105 rs1930506 T A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=199;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,T:8:0:0:0:4,4:124,131:11.90,0.00:0.00,0.00:11.90,0.00:0.99,0.00:0.00,0.00:0.99,0.00:44,37:214.8,193.0:0,0:0,0:95,63:54,70:36,23:chr2 g.92310104T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92310176 rs113016257 T G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:G,T:4:0:0:0:2,2:68,68:6.55,0.00:0.00,0.00:6.55,0.00:0.51,0.00:0.00,0.00:0.51,0.00:37,40:243.0,208.0:0,0:0,0:110,124:12,19:4,14:chr2 g.92310175T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92310177 rs113460902 A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=303 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:4:0:0:0:2,2:65,67:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.51:0.00,0.00:0.00,0.51:37,40:243.0,208.0:0,0:0,0:111,125:11,18:4,14:-,chr2 g.92310176A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312550 rs201459330 T C 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:C,T:7:7:0:0:6,1:152,31:16.76,0.00:16.76,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,35:272.5,296.0:0,0:0,0:34,15:116,127:7,0:chr2 g.92312549T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312558 rs7355482 G A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:236:27.37:27.37:0.00:1.00:1.00:0.00:40:275.5:0:0:40:111:15:chr2 g.92312557G>A (intergenic),chr2 g.92312557G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92312563 rs62147218 C T 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:249:28.68:28.68:0.00:1.00:1.00:0.00:40:275.5:0:0:45:106:15:chr2 g.92312562C>T (intergenic),chr2 g.92312562C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92312590 rs377617305 T C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:C,T:9:9:0:0:7,2:218,63:23.04,0.00:23.04,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:264.4,272.0:0,0:0,0:73,63:78,83:17,8:chr2 g.92312589T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312599 rs6594187 G A 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,G:9:9:0:0:8,1:253,17:27.77,0.00:27.77,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,35:262.4,296.0:0,0:0,0:81,64:70,78:16,0:chr2 g.92312598G>A (intergenic),chr2 g.92312598G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92312618 rs75772027 T C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:C,T:9:9:0:0:8,1:265,28:28.95,0.00:28.95,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,35:262.4,296.0:0,0:0,0:100,83:51,59:16,0:chr2 g.92312617T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312620 rs77619054 C A,G 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:15:A,G:9:9:0:0:8,1:241,33:27.50,2.82:27.50,2.82:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,35:262.4,296.0:0,0:0,0:102,85:49,57:16,0:chr2 g.92312619C>A (intergenic),chr2 g.92312619C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92312624 rs77890096 A C,G 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:12:C,G:9:9:0:0:8,1:199,29:23.24,2.42:23.24,2.42:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:268.4,248.0:0,0:0,0:98,105:48,46:19,0:chr2 g.92312623A>C (intergenic),chr2 g.92312623A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92312662 rs138499516 T C 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,T:8:8:0:0:6,2:176,64:18.49,0.00:18.49,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,35:256.5,193.5:0,0:0,0:131,97:11,27:15,30:chr2 g.92312661T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312723 rs7355666 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=61;NP=78 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:12:0:0:15,12:459,378:44.98,0.00:2.37,0.00:42.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,40:126.7,154.8:0,0:0,0:16,21:130,127:10,6:chr2 g.92312722T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312725 . A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,C:26:11:0:0:23,3:680,100:0.00,7.40:0.00,5.25:0.00,2.15:0.00,0.45:0.00,0.67:0.00,0.79:40,40:120.7,255.7:0,0:0,0:19,22:128,128:8,0:-,chr2 g.92312724A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312730 rs78842125 C G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,G:27:12:0:0:23,4:766,130:0.00,9.99:0.00,4.67:0.00,5.32:0.00,0.66:0.00,0.79:0.00,0.87:40,40:113.5,252.2:0,0:0,0:23,28:123,121:9,1:-,chr2 g.92312729C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312734 rs144366225 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,G:29:14:0:0:25,4:833,140:0.00,10.86:0.00,-0.81:0.00,11.66:0.00,0.65:0.00,0.80:0.00,0.86:41,40:139.8,143.2:0,0:0,0:31,22:119,126:7,6:-,chr2 g.92312733C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312745 rs7349370 C T 93 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,T:32:16:0:0:6,26:194,877:0.00,93.40:0.00,29.92:0.00,63.48:0.00,1.00:0.00,1.00:0.00,1.00:40,40:75.2,162.8:0,0:0,0:37,38:112,108:12,8:-,chr2 g.92312744C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312752 rs28814668 C G 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=26;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,G:38:17:0:0:35,3:1157,95:0.00,6.38:0.00,3.83:0.00,2.55:0.00,0.38:0.00,0.64:0.00,0.72:40,21:146.3,161.0:0,0:0,0:40,58:109,81:12,9:-,chr2 g.92312751C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312760 rs55961314 T G 6 idl;mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=16;NP=27;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:G,T:38:17:0:0:4,34:100,1088:6.44,0.00:7.47,0.00:-1.04,0.00:0.60,0.00:0.75,0.00:0.82,0.00:13,40:223.0,138.5:4,0:0,0:21,50:122,93:6,10:chr2 g.92312759T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312765 rs148772259 T A 8 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,T:34:13:0:4:4,30:113,948:7.91,0.00:6.83,0.00:1.08,0.00:0.62,0.00:0.72,0.00:0.86,0.00:21,40:188.5,132.0:0,0:0,0:62,55:68,91:10,10:chr2 g.92312764T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312766 rs79801838 T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:38:17:0:0:5,33:147,1050:10.69,0.00:3.04,0.00:7.66,0.00:0.77,0.00:0.83,0.00:0.89,0.00:40,40:255.4,131.2:0,0:0,0:63,54:87,95:3,14:chr2 g.92312765T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312776 . G T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:G,T:39:17:0:0:34,5:1138,153:0.00,11.20:0.00,4.01:0.00,7.19:0.00,0.77:0.00,0.83:0.00,0.90:41,40:134.4,255.4:0,0:0,0:64,73:84,77:14,3:-,chr2 g.92312775G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312784 . G A 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;NP=102;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,C,G:39:17:0:0:5,1,33:158,34,1111:11.77,1.92,0.00:6.59,2.15,0.00:5.17,-0.23,0.00:0.77,0.00,0.00:0.83,0.00,0.00:0.90,0.00,0.00:41,13,40:199.0,249.0,139.5:0,0,0:0,0,0:90,46,73:49,102,75:17,0,11:chr2 g.92312783G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312786 . T A 8 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:A,G,T:39:17:0:0:4,3,32:113,100,1045:7.77,6.98,0.00:8.73,2.26,0.00:-0.96,4.72,0.00:0.59,0.00,0.00:0.74,0.00,0.00:0.83,0.00,0.00:13,37,41:223.0,106.0,144.9:0,0,0:0,0,0:46,75,78:97,67,67:6,11,10:chr2 g.92312785T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312789 rs201945347 A G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:39:17:0:0:34,5:1081,180:0.00,13.90:0.00,5.51:0.00,8.40:0.00,0.77:0.00,0.83:0.00,0.90:41,40:134.4,255.4:0,0:0,0:77,86:71,64:14,3:-,chr2 g.92312788A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312797 . T A 9 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,T:38:16:0:0:4,34:128,1140:9.16,0.00:10.22,0.00:-1.06,0.00:0.60,0.00:0.74,0.00:0.82,0.00:13,41:223.0,140.7:0,0:0,0:57,87:86,56:6,10:chr2 g.92312796T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312802 rs371500775 T C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=1;NP=18;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:C,T:38:16:0:0:5,33:160,1085:11.96,0.00:4.34,0.00:7.63,0.00:0.77,0.00:0.82,0.00:0.89,0.00:41,40:211.2,140.0:0,0:0,0:91,91:31,57:17,11:chr2 g.92312801T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312810 . G A 9 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,G:38:16:0:0:4,34:126,1064:8.96,0.00:10.02,0.00:-1.06,0.00:0.60,0.00:0.74,0.00:0.82,0.00:13,41:223.0,140.7:0,0:0,0:70,100:73,43:6,10:chr2 g.92312809G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312813 rs199964785 T G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:G,T:38:16:0:0:5,33:128,1064:8.82,0.00:1.29,0.00:7.53,0.00:0.77,0.00:0.82,0.00:0.89,0.00:40,41:255.4,133.3:0,0:0,0:110,101:40,48:3,14:chr2 g.92312812T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312840 rs370167058 T A 10 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:A,G,T:36:16:0:0:5,1,30:139,19,939:10.06,0.51,0.00:11.36,0.76,0.00:-1.30,-0.25,0.00:0.78,0.00,0.00:0.84,0.00,0.00:0.89,0.00,0.00:13,13,40:232.6,249.0,128.2:0,0,0:0,0,0:103,102,130:38,46,16:12,0,10:chr2 g.92312839T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312842 rs200902004 T A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,T:36:16:0:0:5,31:144,951:10.52,0.00:2.47,0.00:8.06,0.00:0.78,0.00:0.84,0.00:0.89,0.00:40,40:255.4,128.5:0,0:0,0:139,125:11,25:3,14:chr2 g.92312841T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312853 rs7423851 C A 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,C,G:21:10:0:0:18,1,2:556,13,22:62.11,0.00,1.21:20.80,0.00,1.21:41.31,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,35,13:158.4,92.0,253.5:0,0,0:0,0,0:119,141,132:26,9,17:12,0,17:chr2 g.92312852C>A (intergenic),chr2 g.92312852C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92312854 rs200400199 G T 37 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=39 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:9:0:0:8,12:236,373:0.00,37.19:0.00,1.74:0.00,35.45:0.00,1.00:0.00,1.00:0.00,1.00:40,40:210.2,125.8:0,0:0,0:114,132:34,18:2,6:-,chr2 g.92312853G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312869 rs7425031 T A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=139 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,C,T:18:10:0:0:3,1,14:97,12,449:7.69,0.19,0.00:8.32,0.39,0.00:-0.64,-0.20,0.00:0.52,0.00,0.00:0.78,0.00,0.00:0.72,0.00,0.00:40,13,40:79.0,249.0,152.9:0,0,0:0,0,0:13,131,129:138,17,18:0,0,8:chr2 g.92312868T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312871 . G T 8 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:G,T:16:10:0:0:13,3:403,97:0.00,7.78:0.00,8.32:0.00,-0.54:0.00,0.54:0.00,0.82:0.00,0.69:40,13:128.2,227.0:0,0:0,0:128,129:21,17:13,5:-,chr2 g.92312870G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312907 rs4883307 A G 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=230 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:15:0:0:17:589:67.01:55.48:11.53:1.00:1.00:1.00:60:88.1:0:0:20:131:15:chr2 g.92312906A>G (intergenic),chr2 g.92312906A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92312963 rs6594189 T A 82 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=1020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:50:41:0:0:26,2,22:843,62,691:82.30,3.97,0.00:48.49,2.96,0.00:33.81,1.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,48,43:73.6,137.5,72.0:0,2,0:0,0,0:40,58,44:101,91,100:16,2,23:chr2 g.92312962T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312967 . T C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;NP=238 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,T:51:42:0:0:4,47:139,1553:9.72,0.00:6.09,0.00:3.63,0.00:0.54,0.00:0.89,0.00:0.85,0.00:51,60:124.5,74.2:2,0:0,0:41,46:109,96:9,21:chr2 g.92312966T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92312993 . C G 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=83;NP=2;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:83:67:0:0:1,65,17:34,2171,592:1.62,0.00,49.15:0.80,0.00,32.44:0.82,0.00,16.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,40:173.0,94.6,225.7:0,0,0:0,0,0:32,52,27:72,93,105:0,23,9:-,chr2 g.92312992C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92312998 . T C 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=87;NP=5;NP=93 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:87:71:0:0:19,68:639,2229:53.15,0.00:34.25,0.00:18.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:230.7,95.1:0,0:0,0:27,49:109,88:11,22:chr2 g.92312997T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313023 rs149092206 T G 99 nt VT=SNV;PN=G;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:91:69:0:0:33,58:1096,1865:99.46,0.00:51.33,0.00:48.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:229.5,75.7:0,0:0,0:50,88:91,60:13,19:chr2 g.92313022T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313031 . T G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=88;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:G,T:88:65:0:0:7,81:221,2602:14.85,0.00:2.83,0.00:12.02,0.00:0.86,0.00:0.97,0.00:0.97,0.00:25,60:216.0,129.3:0,0:0,0:60,74:84,73:9,26:chr2 g.92313030T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313061 rs71247608 T C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=3;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:C,T:81:55:0:0:7,74:247,2246:17.71,0.00:4.33,0.00:13.38,0.00:0.87,0.00:0.97,0.00:0.98,0.00:25,60:215.4,134.2:0,0:0,0:90,101:54,44:9,19:chr2 g.92313060T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313063 . A C 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;NP=2;NP=3;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:79:52:0:0:64,15:1994,449:0.00,35.45:0.00,19.99:0.00,15.46:0.00,1.00:0.00,1.00:0.00,1.00:60,40:119.2,239.1:0,0:0,0:102,92:42,45:20,15:-,chr2 g.92313062A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313068 rs146827708 C G 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:76:52:0:0:1,52,22,1:10,1717,660,32:-0.17,0.00,56.92,1.50:0.01,0.00,33.69,1.68:-0.18,0.00,23.23,-0.18:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:23,60,40,4:274.0,109.4,237.2,121.0:0,0,0,0:0,0,0,0:63,109,88,127:87,37,47,24:0,20,15,0:-,chr2 g.92313067C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313083 rs140606454 C T 123 nt VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:68:48:0:0:1,30,37:11,892,1255:-0.02,0.00,123.18:0.10,0.00,70.66:-0.12,0.00,52.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:25,60,40:233.0,74.9,220.6:0,0,0:0,0,0:112,122,112:32,23,28:0,13,14:-,chr2 g.92313082C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313104 rs201831680 T C 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:54:33:0:0:21,5,28:641,139,877:59.49,10.01,0.00:24.52,6.39,0.00:34.97,3.61,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,50:245.3,200.0,127.5:0,0,0:0,0,0:119,130,135:14,20,8:14,7,11:chr2 g.92313103T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313114 rs6594190 A G,T 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=219 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:C,G,T:34:20:0:0:5,14,15:143,447,480:12.55,45.98,49.83:8.03,15.25,26.02:4.52,30.72,23.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:41,40,40:185.4,166.8,250.1:0,0,0:0,0,0:127,137,121:12,12,12:14,8,12:chr2 g.92313113A>G (intergenic),chr2 g.92313113A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92313127 rs201109725 A G 15 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,G,T:17:7:0:0:9,6,2:248,162,68:0.00,14.63,5.41:0.00,1.76,2.79:0.00,12.87,2.62:0.00,0.95,0.00:0.00,0.93,0.00:0.00,0.99,0.00:40,25,41:167.1,253.0,256.0:0,0,0:0,0,0:105,125,123:45,26,27:22,4,4:-,chr2 g.92313126A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313129 rs4291683 C A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:A,C:14:6:0:0:12,2:370,64:40.23,0.00:11.77,0.00:28.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,41:196.8,233.5:0,0:0,0:122,131:26,18:14,10:chr2 g.92313128C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313151 rs28794356 T G 9 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:G,T:10:4:0:0:4,6:101,195:9.07,0.00:3.70,0.00:5.37,0.00:0.84,0.00:0.87,0.00:0.94,0.00:25,41:261.8,175.3:0,0:0,0:147,122:3,28:2,11:chr2 g.92313150T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313159 rs6594191 A T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=566 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,T:5:2:0:0:2,3:69,100:0.00,9.97:0.00,-0.79:0.00,10.76:0.00,0.78:0.00,0.87:0.00,0.94:7,34:193.5,130.7:0,0:0,0:121,133:30,16:6,4:-,chr2 g.92313158A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313204 rs147506038 C G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,G:9:0:0:0:4,5:120,169:0.00,16.61:0.00,0.00:0.00,16.61:0.00,0.96:0.00,0.00:0.00,0.96:40,40:130.5,253.0:0,0:0,0:16,16:134,134:3,6:-,chr2 g.92313203C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313231 rs138765056 C G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=3;NP=321 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,C,G:16:0:0:0:4,5,7:131,161,243:11.98,0.00,23.88:0.00,0.00,0.00:11.98,0.00,23.88:0.00,0.00,0.98:0.00,0.00,0.00:0.00,0.00,0.98:45,40,40:210.8,77.8,239.3:0,0,0:0,0,0:29,15,38:121,136,113:19,12,11:-,chr2 g.92313230C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313233 rs200274521 G A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:7,9:229,282:21.48,0.00:0.00,0.00:21.48,0.00:0.98,0.00:0.00,0.00:0.98,0.00:40,45:239.3,136.9:0,0:0,0:40,17:111,134:11,12:chr2 g.92313232G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313260 rs147379604 A G 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=756 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:23:0:0:0:12,1,9,1:338,10,309,12:0.00,0.10,28.97,0.23:0.00,0.00,0.00,0.00:0.00,0.10,28.97,0.23:0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00:45,22,40,37:134.5,213.0,225.0,107.0:0,0,0,0:0,0,0,0:41,29,61,12:108,119,90,127:19,0,17,0:-,chr2 g.92313259A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313261 rs147365737 C T 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=15;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:0:0:0:14,9:414,306:0.00,28.24:0.00,0.00:0.00,28.24:0.00,1.00:0.00,0.00:0.00,1.00:45,40:138.1,225.0:0,0:0,0:40,62:110,89:17,17:-,chr2 g.92313260C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313276 rs139463259 C T 52 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=213 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:0:0:0:8,17:214,506:0.00,51.82:0.00,0.00:0.00,51.82:0.00,1.00:0.00,0.00:0.00,1.00:40,45:75.6,221.1:0,0:0,0:53,57:96,92:15,27:-,chr2 g.92313275C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313287 rs150597154 A G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,G:26:0:0:0:19,7:570,201:0.00,16.87:0.00,0.00:0.00,16.87:0.00,0.96:0.00,0.00:0.00,0.96:40,45:153.5,227.7:0,0:0,0:69,64:82,86:25,29:-,chr2 g.92313286A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313292 rs113964673 T A 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=116 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:0:0:0:13,13:428,422:41.16,0.00:0.00,0.00:41.16,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,45:215.2,131.8:0,0:0,0:71,73:80,77:28,22:chr2 g.92313291T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313299 rs4086719 C G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G:26:0:0:0:22,4:649,142:0.00,11.27:0.00,0.00:0.00,11.27:0.00,0.67:0.00,0.00:0.00,0.67:45,40:183.7,117.0:0,0:0,0:80,67:69,82:27,10:-,chr2 g.92313298C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313304 rs140317529 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=140 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,G:26:0:0:0:21,5:669,167:0.00,13.57:0.00,0.00:0.00,13.57:0.00,0.82:0.00,0.00:0.00,0.82:40,45:162.0,221.6:0,0:0,0:83,85:68,64:25,34:-,chr2 g.92313303C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313321 rs201680787 T C 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,T:27:0:0:0:5,22:172,703:13.97,0.00:0.00,0.00:13.97,0.00:0.82,0.00:0.00,0.00:0.82,0.00:45,40:221.6,155.6:0,0:0,0:102,96:47,52:34,24:chr2 g.92313320T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313330 rs199903866 T A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,T:26:0:0:0:4,22:122,707:9.27,0.00:0.00,0.00:9.27,0.00:0.67,0.00:0.00,0.00:0.67,0.00:45,40:230.8,146.0:0,0:0,0:109,100:40,47:19,21:chr2 g.92313329T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313341 rs6594193 A T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,T:22:0:0:0:18,4:580,94:0.00,6.82:0.00,0.00:0.00,6.82:0.00,0.70:0.00,0.00:0.00,0.70:45,40:176.7,49.5:0,0:0,0:107,111:42,39:16,25:-,chr2 g.92313340A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92313383 rs201815994 G C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,G:11:0:0:0:4,7:130,212:11.78,0.00:0.00,0.00:11.78,0.00:0.82,0.00:0.00,0.00:0.82,0.00:25,40:159.0,119.4:0,0:0,0:130,131:16,19:10,16:chr2 g.92313382G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313392 rs7349422 T A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,T:6:0:0:0:3,3:101,81:9.73,0.00:0.00,0.00:9.73,0.00:0.98,0.00:0.00,0.00:0.98,0.00:25,40:183.7,118.3:0,0:0,0:117,74:30,14:0,10:chr2 g.92313391T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92313395 rs113853950 T G 6 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:G,T:6:0:0:0:2,4:70,111:6.30,0.00:0.00,0.00:6.30,0.00:0.42,0.00:0.00,0.00:0.42,0.00:24,40:143.0,155.0:0,0:0,0:128,98:19,21:8,26:chr2 g.92313394T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315341 rs201647766 G T 343 nt VT=SNV;PN=A;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:95:70:0:0:1,94:35,3009:0.00,343.24:0.00,224.78:0.00,118.47:0.00,1.00:0.00,1.00:0.00,1.00:43,46:166.0,213.1:0,0:0,0:14,31:114,95:0,10:chr2 g.92315340G>T (intergenic),chr2 g.92315340G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92315346 rs200346021 T A 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:103:77:0:0:19,84:622,2793:49.90,0.00:38.82,0.00:11.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,46:152.1,223.0:0,0:0,0:25,36:95,92:12,10:chr2 g.92315345T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315347 rs200958715 T A 259 nt VT=SNV;PN=T;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:106:81:0:0:79,1,26:2465,10,824:258.62,-0.01,0.00:155.58,0.02,0.00:103.04,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,20,44:225.7,226.0,174.9:0,0,0:0,0,0:36,38,19:91,87,100:9,0,13:chr2 g.92315346T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315359 rs62147234 G A 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=166;DB;DBA=NA;PAF=NA;NP=568 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:166:131:0:0:27,138,1:870,4473,34:67.97,0.00,1.30:53.29,0.00,0.62:14.68,0.00,0.68:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,45,32:135.4,215.8,231.0:0,0,0:0,0,0:31,40,7:97,84,91:18,14,0:chr2 g.92315358G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315362 . T G 116 nt VT=SNV;PN=T;NN=G;SST=Single;DP=169;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:169:134:0:0:1,41,127:11,1366,4084:-0.25,115.64,0.00:-0.20,69.58,0.00:-0.05,46.05,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:25,46,45:186.0,232.4,192.9:0,0,0:0,0,0:47,52,34:85,74,87:0,10,18:chr2 g.92315361T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315366 rs199796982 A T 279 nt VT=SNV;PN=A;NN=C;SST=Single;DP=178;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:178:143:0:0:87,91:2713,2892:0.00,278.94:0.00,167.87:0.00,111.07:0.00,1.00:0.00,1.00:0.00,1.00:44,46:180.0,224.2:0,0:0,0:23,53:87,74:15,13:-,chr2 g.92315365A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315372 rs200448528 T C 297 nt VT=SNV;PN=C;NN=T;SST=Single;DP=186;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:186:151:0:0:94,92:3082,3117:297.02,0.00:173.27,0.00:123.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:46,44:223.3,181.3:0,0:0,0:55,28:73,83:16,16:chr2 g.92315371T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315418 rs202191720 T C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=194;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:194:155:0:0:27,167:840,5477:63.06,0.00:29.26,0.00:33.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,46:210.1,198.9:0,0:0,0:85,86:33,33:15,22:chr2 g.92315417T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315423 rs201505765 A G 401 nt VT=SNV;PN=G;NN=A;SST=Single;DP=188;DB;DBA=NA;PAF=NA;NP=507 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:188:149:0:0:65,123:2107,3950:0.00,400.91:0.00,233.75:0.00,167.16:0.00,1.00:0.00,1.00:0.00,1.00:46,44:163.9,214.4:0,0:0,0:98,88:24,32:22,20:-,chr2 g.92315422A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315427 . A G 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=193;NP=188 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:193:153:0:0:157,1,35:5183,9,1147:0.00,-0.30,91.85:0.00,-0.20,57.52:0.00,-0.10,34.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:46,23,44:194.6,248.0,211.9:0,0,0:0,0,0:99,92,75:24,28,26:20,0,12:-,chr2 g.92315426A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315442 . A G 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=183;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:183:137:0:1:154,1,26,2:5025,33,796,71:0.00,1.16,59.79,3.41:0.00,1.30,35.35,1.66:0.00,-0.15,24.45,1.74:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:46,27,44,41:198.5,176.0,225.2,203.5:0,0,0,0:0,0,0,0:117,96,87,113:10,6,24,-1:18,0,8,0:-,chr2 g.92315441A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315446 rs199503032 A C 437 nt VT=SNV;PN=A;NN=A;SST=Single;DP=163;DB;DBA=NA;PAF=NA;NP=46 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:163:119:0:0:35,128:1142,4130:0.00,436.94:0.00,216.73:0.00,220.20:0.00,1.00:0.00,1.00:0.00,1.00:44,46:134.4,225.1:1,0:0,0:102,108:10,11:19,20:-,chr2 g.92315445A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315450 rs200837644 A T 598 nt VT=SNV;PN=C;NN=A;SST=Single;DP=164;DB;DBA=NA;PAF=NA;NP=753 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:164:122:0:0:3,1,160:82,12,5290:0.00,0.09,598.44:0.00,-0.01,349.33:0.00,0.10,249.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,23,46:117.0,248.0,213.4:0,0,0:0,0,0:93,115,118:23,5,7:34,0,19:chr2 g.92315449A>T (intergenic),chr2 g.92315449A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92315453 . A G 62 nt VT=SNV;PN=G;NN=C;SST=Single;DP=153;NP=387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:153:111:0:0:128,1,24:3979,9,796:0.00,-0.33,62.29:0.00,-0.22,40.24:0.00,-0.12,22.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:46,13,44:205.6,270.0,245.3:1,0,0:0,0,0:125,110,98:4,28,14:18,0,10:-,chr2 g.92315452A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315455 rs62147235 A G 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;NP=81 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:139:100:0:0:118,1,20:3859,6,570:0.00,-0.34,41.87:0.00,-0.20,36.09:0.00,-0.14,5.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:46,3,42:225.3,269.0,142.7:1,0,0:0,0,0:115,138,103:7,-4,13:21,0,10:-,chr2 g.92315454A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315456 rs113774409 G C 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=140;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:140:103:0:0:1,17,121,1:34,554,3872,21:1.36,41.16,0.00,0.19:0.64,8.15,0.00,0.33:0.73,33.01,0.00,-0.14:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:42,46,44,19:202.0,229.2,213.2,212.0:0,0,0,0:0,0,0,0:88,137,113,131:11,-3,9,8:0,10,20,0:chr2 g.92315455G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315467 rs200797107 T A 281 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:A,T:76:58:0:0:75,1:2471,36:280.50,0.00:180.53,0.00:99.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,42:221.3,0.0:0,0:0,0:118,76:6,62:12,0:chr2 g.92315466T>A (intergenic),chr2 g.92315466T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92315473 rs201632985 C T 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9972,T/0.002796;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T:13:8:0:0:1,12:30,341:0.00,38.26:0.00,16.10:0.00,22.16:0.00,1.00:0.00,1.00:0.00,1.00:42,44:0.0,254.6:0,0:0,0:82,123:56,22:0,23:chr2 g.92315472C>T (intergenic),chr2 g.92315472C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92315474 rs200149557 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:31:A,G,T:11:7:0:0:7,3,1:191,56,32:19.78,0.00,2.52:7.78,0.00,-0.10:12.00,0.00,2.62:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,42,24:259.0,160.3,264.0:0,0,0:0,0,0:106,105,136:36,46,15:25,22,0:chr2 g.92315473G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315483 rs201080814 G T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:G,T:9:5:0:0:1,8:33,211:0.00,23.46:0.00,8.34:0.00,15.12:0.00,1.00:0.00,1.00:0.00,1.00:42,40:0.0,256.2:0,0:0,0:92,114:46,32:0,19:-,chr2 g.92315482G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315502 rs201490730 G C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,G:6:3:0:0:4,2:106,63:10.82,0.00:3.09,0.00:7.73,0.00:0.93,0.00:0.97,0.00:0.99,0.00:21,42:253.8,134.5:0,0:0,0:113,122:31,22:9,11:chr2 g.92315501G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315845 rs201316752 C G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,C,G:4:3:0:0:1,1,2:33,35,69:3.05,0.00,6.95:3.05,0.00,1.54:0.00,0.00,5.41:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.79:6,40,27:300.0,0.0,235.0:0,0,0:0,0,0:84,115,53:57,36,76:0,0,16:-,chr2 g.92315844C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315902 rs59524050 C G 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:351:39.87:0.00:39.87:1.00:0.00:1.00:37:239.4:0:0:57:75:3:chr2 g.92315901C>G (intergenic),chr2 g.92315901C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92315903 . A C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,C:10:0:0:0:6,4:201,144:0.00,13.39:0.00,0.00:0.00,13.39:0.00,0.84:0.00,0.00:0.00,0.84:25,37:224.2,262.2:0,0:0,0:59,55:69,78:2,4:-,chr2 g.92315902A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315907 rs62147237 G T 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=5;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:326:37.37:0.00:37.37:1.00:0.00:1.00:37:239.4:0:0:62:70:3:chr2 g.92315906G>T (intergenic),chr2 g.92315906G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92315909 rs60701792 A G 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:1:0:0:11:343:39.51:3.68:35.83:1.00:1.00:1.00:37:244.8:0:0:64:71:3:chr2 g.92315908A>G (intergenic),chr2 g.92315908A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92315955 rs369992649 C T 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=187 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,G,T:20:7:0:0:16,1,3:550,35,99:0.00,2.32,7.73:0.00,-0.08,4.18:0.00,2.40,3.55:0.00,0.00,0.50:0.00,0.00,0.64:0.00,0.00,0.88:40,17,41:214.6,275.0,181.3:0,0,0:0,0,0:107,38,61:31,111,65:14,0,3:-,chr2 g.92315954C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315958 rs199825962 A T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,T:22:9:0:0:18,4:585,135:0.00,10.88:0.00,2.60:0.00,8.28:0.00,0.70:0.00,0.79:0.00,0.95:41,37:202.8,276.8:0,0:0,0:63,106:59,29:45,9:-,chr2 g.92315957A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315970 rs111266424 C T 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=86 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,T:23:11:0:0:3,20:98,683:0.00,73.97:0.00,17.86:0.00,56.11:0.00,1.00:0.00,1.00:0.00,1.00:41,42:65.7,236.4:0,0:0,0:34,77:96,34:17,45:-,chr2 g.92315969C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315977 rs201404726 C G 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9952,A/0.004792,G/.;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:12:0:0:14,10:483,344:0.00,32.09:0.00,4.02:0.00,28.07:0.00,1.00:0.00,0.92:0.00,1.00:52,37:194.1,235.5:0,0:0,0:32,125:89,10:26,18:-,chr2 g.92315976C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92315985 rs375607531 T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:G,T:23:11:0:0:5,18:162,590:13.36,0.00:8.57,0.00:4.79,0.00:0.84,0.00:0.89,0.00:0.98,0.00:45,60:237.0,190.9:0,0:0,0:19,90:90,22:10,49:chr2 g.92315984T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92315990 rs199890206 T A 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:25:14:0:0:10,1,14:324,35,463:30.09,2.33,0.00:3.68,1.17,0.00:26.41,1.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:37,24,60:228.8,272.0,174.7:0,0,0:0,0,0:138,52,21:-2,67,90:8,0,15:chr2 g.92315989T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316007 rs62147252 C G,T 62 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=79 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:77:C,G,T:23:19:0:0:2,17,4:71,577,141:0.00,62.40,12.81:0.00,38.21,6.44:0.00,24.18,6.36:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,54,17:16.5,202.7,256.2:0,0,0:0,0,0:38,39,67:70,76,41:15,23,47:chr2 g.92316006C>G (intergenic),chr2 g.92316006C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92316009 rs201649520 G A 8 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,G:24:20:0:0:3,21:102,727:7.71,0.00:2.28,0.00:5.43,0.00:0.47,0.00:0.86,0.00:0.83,0.00:7,60:256.3,187.4:0,0:0,0:114,34:23,74:0,17:chr2 g.92316008G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316011 rs369169226 T A 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,G,T:24:19:0:0:6,1,17:196,35,561:16.73,2.28,0.00:11.06,1.16,0.00:5.66,1.12,0.00:0.92,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:45,51,60:226.0,174.0,182.0:0,0,0:0,0,0:44,25,25:68,118,109:8,0,14:chr2 g.92316010T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316025 rs372763452 C G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=13;NP=4;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,G:24:18:0:0:18,6:635,196:0.00,16.60:0.00,11.19:0.00,5.41:0.00,0.92:0.00,0.98:0.00,0.99:60,45:191.9,230.8:0,0:0,0:39,58:98,54:24,8:-,chr2 g.92316024C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316026 rs371581257 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=1;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,G:26:20:0:0:20,6:677,179:0.00,14.67:0.00,9.56:0.00,5.11:0.00,0.91:0.00,0.98:0.00,0.99:60,45:202.6,225.8:0,0:0,0:40,59:75,53:25,8:-,chr2 g.92316025A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316027 rs200376423 T C 8 end;mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:50:C,T:26:20:0:0:3,23:105,749:7.89,0.00:2.48,0.00:5.41,0.00:0.45,0.00:0.83,0.00:0.87,0.00:7,60:256.3,203.4:0,0:0,0:132,43:5,63:0,16:chr2 g.92316026T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316065 rs547346380 A T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,T:20:16:0:0:17,3:589,102:0.00,7.96:0.00,0.98:0.00,6.98:0.00,0.50:0.00,0.86:0.00,0.89:60,42:180.8,259.0:0,0:0,0:81,53:50,88:16,1:-,chr2 g.92316064A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316076 rs77475602 A G 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=108 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,C,G,T:18:13:0:0:2,1,13,2:68,35,445,67:0.00,2.68,47.75,5.64:0.00,1.34,18.87,2.82:0.00,1.34,28.88,2.82:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,10,60,45:101.5,275.0,186.9,237.5:0,0,0,0:0,0,0,0:96,76,85,95:33,1,53,8:4,0,12,5:-,chr2 g.92316075A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316084 rs201817842 C T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:14:10:0:0:6,1,7:211,35,227:0.00,2.64,22.13:0.00,1.35,9.48:0.00,1.29,12.65:0.00,0.00,1.00:0.00,0.00,0.95:0.00,0.00,1.00:60,54,60:83.0,165.0,244.6:0,0,0:0,0,0:99,92,86:43,59,56:8,0,13:-,chr2 g.92316083C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316107 rs200027284 A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:12:7:0:0:9,3:299,106:0.00,9.10:0.00,3.11:0.00,5.99:0.00,0.59:0.00,0.84:0.00,0.59:60,60:142.9,232.7:0,0:0,0:121,96:22,33:7,0:-,chr2 g.92316106A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316124 rs200979508 G A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G,T:11:7:0:0:4,6,1:132,211,34:12.17,0.00,2.59:6.38,0.00,1.36:5.79,0.00,1.23:0.82,0.00,0.00:0.94,0.00,0.00:0.98,0.00,0.00:60,60,40:237.0,142.5,265.0:0,0,0:0,0,0:113,138,133:26,8,18:6,4,0:chr2 g.92316123G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316160 rs4086720 A C,G 7 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C,G:4:1:0:0:1,1,2:30,34,65:0.00,3.15,6.55:0.00,0.00,3.78:0.00,3.15,2.77:0.00,0.00,0.51:0.00,0.00,0.67:0.00,0.00,0.89:2,40,28:272.0,204.0,270.0:0,0,0:0,0,0:148,146,101:3,5,40:0,0,47:chr2 g.92316159A>C (intergenic),chr2 g.92316159A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92316178 . G C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,C,G:9:9:0:0:1,6,2:27,199,70:2.12,20.75,0.00:2.12,17.15,0.00:0.00,3.60,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.91,0.00:9,41,27:300.0,252.8,252.5:0,0,0:0,0,0:16,12,43:101,124,94:0,6,29:chr2 g.92316177G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316183 rs4086721 C G 31 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:272:31.02:29.08:1.94:1.00:1.00:1.00:41:260.6:0:0:19:113:5:chr2 g.92316182C>G (intergenic),chr2 g.92316182C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92316187 rs12618303 C A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,C,T:12:11:0:0:5,4,3:167,128,104:16.25,0.00,9.53:14.73,0.00,8.01:1.51,0.00,1.51:0.92,0.00,0.00:0.99,0.00,0.00:0.82,0.00,0.00:41,40,41:262.4,241.2,246.7:0,0,0:0,0,0:10,29,24:119,88,104:8,16,7:chr2 g.92316186C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316195 rs62147253 T A 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,T:13:12:0:0:10,3:335,99:35.22,0.00:27.29,0.00:7.93,0.00:1.00,0.00:1.00,0.00:0.99,0.00:41,40:254.2,257.3:0,0:0,0:25,33:107,84:10,24:chr2 g.92316194T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316198 rs62147254 G C,T 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=77 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:C,G,T:15:14:0:0:12,1,2:390,35,61:42.86,0.00,5.24:36.15,0.00,5.24:6.71,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:41,6,40:256.0,241.0,265.5:0,0,0:0,0,0:21,92,24:107,41,110:13,0,12:chr2 g.92316197G>C (intergenic),chr2 g.92316197G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92316202 rs62147255 G A 55 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,G:20:19:0:0:16,4:520,134:55.29,0.00:42.51,0.00:12.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,40:240.9,203.8:0,0:0,0:17,28:108,95:14,19:chr2 g.92316201G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316241 rs62147256 A C 90 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=924 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:60:54:0:0:33,27:1069,949:0.00,89.85:0.00,62.86:0.00,26.99:0.00,1.00:0.00,1.00:0.00,1.00:50,44:185.3,213.3:0,0:0,0:49,40:68,106:19,9:-,chr2 g.92316240A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316246 . T G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;NP=271 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:G,T:66:60:0:0:8,58:268,1927:20.04,0.00:14.05,0.00:5.98,0.00:0.94,0.00:1.00,0.00:0.99,0.00:43,50:158.0,208.6:0,1:0,0:68,39:50,102:16,12:chr2 g.92316245T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316248 rs79560932 T G 243 nt VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1510 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G,T:66:60:0:1:64,2:2165,66:243.11,0.00:147.36,0.00:95.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,40:205.5,180.5:0,0:0,0:46,37:88,114:12,25:chr2 g.92316247T>G (intergenic),chr2 g.92316247T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92316279 . T A 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=85;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:85:75:0:0:17,68:544,2114:44.08,0.00:30.01,0.00:14.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,50:238.1,195.1:0,0:0,0:22,79:95,57:8,13:chr2 g.92316278T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316283 . A G 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;NP=35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:71:0:0:65,17:2208,552:0.00,45.14:0.00,25.01:0.00,20.13:0.00,1.00:0.00,1.00:0.00,1.00:50,60:193.8,238.4:0,0:0,0:84,26:53,91:14,14:-,chr2 g.92316282A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316296 rs62147257 A T 46 nt VT=SNV;PN=G;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=70 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:76:63:0:0:59,17:1927,552:0.00,45.78:0.00,24.73:0.00,21.04:0.00,1.00:0.00,1.00:0.00,1.00:60,43:208.8,213.5:0,0:0,0:85,99:64,37:21,15:-,chr2 g.92316295A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316307 rs199503901 C G 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:74:61:0:0:60,14:2038,484:0.00,39.50:0.00,19.43:0.00,20.07:0.00,1.00:0.00,1.00:0.00,1.00:43,60:217.4,229.1:0,0:0,0:97,51:51,66:16,10:-,chr2 g.92316306C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316308 rs4512715 C T 268 nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=87 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C,T:73:59:0:0:2,71:65,2378:0.00,267.64:0.00,151.63:0.00,116.00:0.00,1.00:0.00,1.00:0.00,1.00:17,60:99.0,223.9:0,0:0,0:46,98:104,48:25,16:chr2 g.92316307C>T (intergenic),chr2 g.92316307C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92316315 rs201511103 C G 137 nt VT=SNV;PN=A;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:69:47:0:0:28,41:953,1380:0.00,137.31:0.00,76.66:0.00,60.65:0.00,1.00:0.00,1.00:0.00,1.00:60,43:210.9,240.6:0,0:0,0:73,105:57,46:28,13:-,chr2 g.92316314C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316317 rs6741231 A T 177 nt VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=164 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:72:50:0:0:18,1,53:582,36,1696:0.00,2.12,177.34:0.00,1.06,83.17:0.00,1.05,94.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,22,43:214.4,241.0,232.7:0,0,0:0,0,0:60,78,107:73,46,44:15,0,13:-,chr2 g.92316316A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316328 rs201581502 T A 151 nt VT=SNV;PN=G;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:67:41:0:0:46,21:1472,678:150.98,0.00:69.80,0.00:81.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:236.6,223.0:0,0:0,0:118,71:33,58:13,19:chr2 g.92316327T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316347 rs113762522 G A 180 nt VT=SNV;PN=A;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=28;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:36:0:0:52,11:1677,373:179.79,0.00:79.73,0.00:100.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,35:231.4,216.5:0,0:0,0:117,108:21,25:20,6:chr2 g.92316346G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316355 rs112540360 T C 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=44 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:53:25:0:0:12,1,40:399,35,1243:33.43,1.93,0.00:14.46,1.02,0.00:18.97,0.91,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:51,60,41:228.8,171.0,229.7:0,0,0:0,0,0:96,73,133:29,48,10:10,0,13:chr2 g.92316354T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316365 rs147634162 T C 86 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:36:13:0:0:25,2,9:830,47,276:86.31,3.04,0.00:17.51,1.87,0.00:68.80,1.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,21,60:243.1,195.0,201.9:0,0,0:0,0,0:118,82,126:28,33,21:15,32,6:chr2 g.92316364T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316396 rs199895345 A G 7 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,G:9:6:0:0:6,3:191,78:0.00,6.74:0.00,2.74:0.00,4.00:0.00,0.64:0.00,0.42:0.00,0.94:60,34:190.2,227.7:0,0:0,0:111,146:10,2:21,3:-,chr2 g.92316395A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316403 rs201209822 T A 8 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,T:6:5:0:0:3,3:81,93:7.71,0.00:4.56,0.00:3.15,0.00:0.98,0.00:0.96,0.00:0.89,0.00:16,40:247.0,145.0:0,0:0,0:21,6:105,145:16,5:chr2 g.92316402T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316416 rs7423133 C A 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=164 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:A,C:7:5:0:0:5,2:169,41:17.57,0.00:12.31,0.00:5.26,0.00:0.98,0.00:1.00,0.00:0.98,0.00:40,50:178.4,109.5:0,0:0,0:18,20:132,118:4,14:chr2 g.92316415C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316436 rs7421670 G T 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:G,T:11:9:0:0:7,4:240,129:0.00,11.68:0.00,9.27:0.00,2.40:0.00,0.82:0.00,0.97:0.00,0.96:50,40:120.9,157.0:0,0:0,0:26,32:99,112:21,4:-,chr2 g.92316435G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316437 rs7423839 A T 11 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=62 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G,T:10:9:0:0:5,1,4:162,35,115:0.00,2.75,10.70:0.00,1.37,8.73:0.00,1.37,1.97:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.96:50,10,40:97.2,132.0,160.2:0,0,0:0,0,0:13,11,33:98,140,111:7,0,4:-,chr2 g.92316436A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316526 rs7424297 T A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=386 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:15:0:0:9,7:299,246:29.43,0.00:20.15,0.00:9.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:156.9,68.0:0,0:0,0:93,95:49,17:31,7:chr2 g.92316525T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316547 rs11681405 G T 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=64 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:G,T:9:9:0:2:1,8:36,240:0.00,26.44:0.00,21.23:0.00,5.21:0.00,1.00:0.00,1.00:0.00,1.00:50,39:0.0,121.6:0,0:0,0:137,89:14,60:0,7:-,chr2 g.92316546G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316614 rs7424318 T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9205,G/0.07947;NP=1;NP=349 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:G,T:5:2:0:0:4,1:97,35:10.48,0.00:2.88,0.00:7.60,0.00:0.96,0.00:0.97,0.00:1.00,0.00:39,56:109.2,34.0:0,0:0,0:71,87:78,62:59,0:chr2 g.92316613T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316625 rs4460696 T A 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,T:7:3:0:0:4,3:111,97:10.89,0.00:3.08,0.00:7.81,0.00:0.90,0.00:0.93,0.00:0.98,0.00:39,56:97.8,126.0:0,0:0,0:24,12:126,85:9,3:chr2 g.92316624T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92316646 rs77426920 C T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;NP=67 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:12:7:0:0:8,4:260,140:0.00,12.59:0.00,11.72:0.00,0.87:0.00,0.80:0.00,0.92:0.00,0.42:56,25:51.1,136.2:0,0:0,0:32,22:115,126:16,9:-,chr2 g.92316645C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316739 rs573150734 G T 8 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=320 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,T:13:8:0:0:10,3:312,98:0.00,8.19:0.00,7.30:0.00,0.89:0.00,0.58:0.00,0.84:0.00,0.84:39,19:112.7,129.0:0,0:0,0:110,122:41,23:17,1:-,chr2 g.92316738G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92316741 . T A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,T:13:8:0:0:3,10:103,327:8.68,0.00:5.97,0.00:2.71,0.00:0.58,0.00:0.84,0.00:0.84,0.00:37,39:285.7,65.8:0,0:0,0:125,108:21,42:3,21:chr2 g.92316740T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92317326 rs62148461 C T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=73 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,106:0.00,11.05:0.00,7.45:0.00,3.60:0.00,0.85:0.00,0.85:0.00,0.99:60,40:0.0,226.3:0,0:0,0:65,62:85,53:0,3:-,chr2 g.92317325C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92317340 rs6739617 C G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=112 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,G:8:7:0:0:5,3:175,84:0.00,7.52:0.00,3.14:0.00,4.38:0.00,0.67:0.00,0.95:0.00,0.67:60,40:155.4,175.0:0,0:0,0:5,76:71,39:3,3:-,chr2 g.92317339C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92317347 rs199828944 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9994,C/.,G/0.000599;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:9:8:0:0:3,6:102,190:9.14,0.00:4.66,0.00:4.48,0.00:0.64,0.00:0.94,0.00:0.64,0.00:40,60:207.0,127.7:0,0:0,0:15,54:64,55:5,37:chr2 g.92317346T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92317357 rs200606213 G C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,G:9:8:0:0:3,6:105,199:9.44,0.00:4.81,0.00:4.63,0.00:0.64,0.00:0.94,0.00:0.64,0.00:40,60:233.0,148.8:0,1:0,0:25,64:71,45:5,37:chr2 g.92317356G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92317361 rs201409859 C T 9 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:8:7:0:59:5,3:148,100:0.00,9.14:0.00,4.67:0.00,4.47:0.00,0.67:0.00,0.95:0.00,0.67:60,40:125.2,233.0:0,0:0,0:97,29:35,67:19,5:-,chr2 g.92317360C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92317371 rs200886604 C G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9996,G/.,T/0.0003994;NP=1;NP=51 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,G:10:8:0:0:7,3:210,103:0.00,9.09:0.00,4.62:0.00,4.47:0.00,0.95:0.00,0.92:0.00,0.94:60,40:147.1,236.0:0,0:0,0:107,39:39,57:3,5:-,chr2 g.92317370C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92317758 rs6594208 A C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=409 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,C:7:6:0:0:1,6:22,196:0.00,21.22:0.00,18.20:0.00,3.02:0.00,1.00:0.00,1.00:0.00,1.00:60,40:0.0,122.5:0,0:0,0:66,70:85,78:0,15:-,chr2 g.92317757A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92317774 rs4086723 C A,G 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=641 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C,G:10:9:0:0:1,1,8:36,30,271:3.03,0.00,29.44:1.54,0.00,24.52:1.49,0.00,4.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:40,60,56:260.0,0.0,84.6:0,0,0:0,0,0:36,82,54:115,69,96:0,0,39:chr2 g.92317773C>A (intergenic),chr2 g.92317773C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92317885 rs201640900 CT C 13 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=64;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:CT,C:10:3:0:6:4,6:122,137:0.00,13.36:0.00,10.16:0.00,3.19:0.00,0.99:0.00,0.94:0.00,1.00:40,56:106.2,96.8:0,0:0,0:117,124:34,26:18,1:-,chr2 g.92317886delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92317890 rs7597972 T A,C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,C,T:9:3:0:0:3,3,3:102,100,96:9.67,9.47,0.00:6.80,3.30,0.00:2.87,6.17,0.00:0.64,0.00,0.00:0.73,0.00,0.00:0.42,0.00,0.00:54,56,40:93.0,100.7,55.0:3,3,0:0,0,0:127,129,115:23,21,36:2,2,14:chr2 g.92317889T>A (intergenic),chr2 g.92317889T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92317913 rs4086725 C A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.491,A/0.509,G/.,T/.;NP=224 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:110:12.90:0.00:12.90:1.00:0.00:1.00:42:88.5:0:0:125:26:14:chr2 g.92317912C>A (intergenic),chr2 g.92317912C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92317946 rs79318046 T G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=6;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:G,T:9:5:0:0:3,6:99,175:8.85,0.00:5.96,0.00:2.89,0.00:0.64,0.00:0.86,0.00:0.86,0.00:32,44:222.3,90.0:0,0:0,0:7,20:144,108:4,6:chr2 g.92317945T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92317953 . T G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:G,T:9:6:0:0:3,6:83,192:7.24,0.00:6.38,0.00:0.85,0.00:0.64,0.00:0.42,0.00:0.81,0.00:32,44:222.3,98.5:0,0:0,0:14,25:137,122:4,6:chr2 g.92317952T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92317954 . T G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:G,T:8:6:0:0:3,5:97,160:8.83,0.00:5.89,0.00:2.94,0.00:0.67,0.00:0.93,0.00:0.78,0.00:32,44:222.3,91.4:0,0:0,0:15,26:136,121:4,4:chr2 g.92317953T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92317984 rs140248018 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=34;NP=46;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:12:0:0:6,8:203,243:19.02,0.00:15.77,0.00:3.24,0.00:0.96,0.00:1.00,0.00:0.83,0.00:32,44:193.8,124.2:0,0:0,0:26,39:124,108:19,18:chr2 g.92317983T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92317995 . C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;NP=5;NP=63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:C,G:14:12:0:0:10,4:304,122:0.00,10.47:0.00,8.16:0.00,2.31:0.00,0.98:0.00,0.96:0.00,0.66:44,32:130.8,212.2:0,0:0,0:37,54:105,97:19,8:-,chr2 g.92317994C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318006 rs201832026 C T 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1;NP=194 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:16:0:0:9,9:279,276:0.00,26.47:0.00,24.25:0.00,2.22:0.00,1.00:0.00,1.00:0.00,0.89:44,32:113.2,170.9:0,0:0,0:54,33:97,117:25,29:-,chr2 g.92318005C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318009 rs4323963 C G 63 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=271 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,G:19:17:0:0:2,17:61,575:0.00,62.83:0.00,55.77:0.00,7.07:0.00,1.00:0.00,1.00:0.00,1.00:44,40:134.5,145.8:0,0:0,0:81,36:45,114:0,29:-,chr2 g.92318008C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318030 . C T 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,T:30:27:0:0:27,3:858,97:0.00,6.90:0.00,7.06:0.00,-0.16:0.00,0.43:0.00,0.86:0.00,0.35:44,38:125.0,272.7:0,0:0,0:52,55:99,56:32,4:-,chr2 g.92318029C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318036 . A G 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;NP=208;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C,G:29:26:0:0:25,1,3:786,34,103:0.00,2.03,7.59:0.00,2.08,7.73:0.00,-0.05,-0.14:0.00,0.00,0.43:0.00,0.00,0.86:0.00,0.00,0.34:40,34,38:133.6,34.0,272.7:0,0,0:0,0,0:58,26,61:93,124,50:30,0,4:-,chr2 g.92318035A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318038 . T A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;NP=8;NP=88 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:A,T:29:26:0:0:3,26:102,733:7.45,0.00:7.59,0.00:-0.14,0.00:0.43,0.00:0.86,0.00:0.34,0.00:38,40:272.7,129.8:0,0:0,0:63,53:48,95:4,25:chr2 g.92318037T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318056 . C T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;NP=2;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T:31:28:0:0:28,3:798,108:0.00,7.96:0.00,8.09:0.00,-0.13:0.00,0.42:0.00,0.86:0.00,0.32:40,36:148.4,152.7:0,0:0,0:71,48:75,99:27,3:-,chr2 g.92318055C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318059 . T A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,T:32:29:0:0:5,27:158,827:12.17,0.00:12.39,0.00:-0.22,0.00:0.79,0.00:0.97,0.00:0.45,0.00:38,40:247.8,127.6:0,0:0,0:51,67:75,78:22,23:chr2 g.92318058T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318074 rs149623706 T G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:G,T:32:29:0:0:7,25:208,762:16.85,0.00:17.18,0.00:-0.32,0.00:0.95,0.00:1.00,0.00:0.56,0.00:38,40:233.9,121.8:0,0:0,0:67,82:60,63:23,23:chr2 g.92318073T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318078 . A T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,T:29:26:0:0:24,5:737,167:0.00,13.30:0.00,13.55:0.00,-0.25:0.00,0.80:0.00,0.97:0.00,0.48:40,38:119.9,247.8:0,0:0,0:76,70:75,56:16,22:-,chr2 g.92318077A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318084 . T C 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,T:29:26:0:0:5,24:153,758:11.90,0.00:12.15,0.00:-0.24,0.00:0.80,0.00:0.97,0.00:0.48,0.00:38,40:247.8,119.9:0,0:0,0:76,82:50,69:22,16:chr2 g.92318083T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318101 . T A 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,T:27:26:0:0:5,22:162,674:12.97,0.00:13.06,0.00:-0.09,0.00:0.82,0.00:0.98,0.00:0.46,0.00:38,40:247.8,106.2:0,0:0,0:93,93:33,54:22,10:chr2 g.92318100T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318115 rs7349334 G T 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=188 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:24:0:0:18,7:532,223:0.00,19.22:0.00,19.36:0.00,-0.14:0.00,0.96:0.00,1.00:0.00,0.52:40,36:126.4,142.6:0,0:0,0:106,113:39,38:10,17:-,chr2 g.92318114G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318132 . G T 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:19:18:0:0:16,3:475,97:0.00,7.54:0.00,7.61:0.00,-0.07:0.00,0.51:0.00,0.90:0.00,0.44:40,32:89.1,237.3:0,0:0,0:119,110:30,11:6,8:-,chr2 g.92318131G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318154 . C A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;NP=130 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,C:14:13:0:0:4,10:134,304:11.67,0.00:11.82,0.00:-0.15,0.00:0.98,0.00:0.97,0.00:0.52,0.00:40,40:169.2,59.8:0,0:0,0:135,138:13,12:4,9:chr2 g.92318153C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318164 rs2201317 A G 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=213 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,G:9:8:0:0:1,8:24,265:0.00,28.96:0.00,25.63:0.00,3.33:0.00,1.00:0.00,1.00:0.00,0.93:40,40:13.0,107.0:0,0:0,0:147,91:3,59:0,54:-,chr2 g.92318163A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318199 rs143714691 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:12:8:0:0:8,4:245,134:0.00,12.00:0.00,5.34:0.00,6.65:0.00,0.80:0.00,0.94:0.00,0.81:31,40:91.9,252.8:0,0:0,0:36,22:108,123:26,8:-,chr2 g.92318198C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318210 rs111403658 A G 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=6;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:A,G:14:8:0:0:9,5:236,154:0.00,13.83:0.00,5.81:0.00,8.02:0.00,0.90:0.00,0.95:0.00,0.91:52,40:99.8,250.2:0,0:0,0:28,27:107,114:24,13:-,chr2 g.92318209A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318222 rs6594211 C G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=718 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,G:24:12:0:0:21,3:566,99:0.00,7.41:0.00,5.47:0.00,1.94:0.00,0.47:0.00,0.72:0.00,0.72:52,40:173.1,143.7:0,0:0,0:20,40:124,95:18,40:-,chr2 g.92318221C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318227 rs111296239 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.9956,G/0.004393;NP=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,G:29:12:0:0:23,6:679,180:0.00,14.45:0.00,5.18:0.00,9.27:0.00,0.90:0.00,0.89:0.00,0.95:52,40:141.2,252.2:0,0:0,0:21,32:120,118:15,21:-,chr2 g.92318226C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318232 rs7370131 G C 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=111 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,G:33:13:0:0:6,27:160,788:12.11,0.00:8.58,0.00:3.53,0.00:0.89,0.00:0.87,0.00:0.96,0.00:40,52:239.3,137.6:0,0:0,0:33,20:111,125:12,14:chr2 g.92318231G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318244 rs200609409 T C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,C,T:33:12:0:0:1,6,26:8,187,793:-0.18,14.89,0.00:-0.13,5.65,0.00:-0.06,9.24,0.00:0.00,0.89,0.00:0.00,0.86,0.00:0.00,0.70,0.00:46,40,52:202.0,252.2,146.6:0,0,0:0,0,0:39,49,24:89,101,119:0,21,9:chr2 g.92318243T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318251 rs6594212 C A 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=314 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,C,G,T:34:13:0:0:26,5,2,1:754,97,41,10:81.62,0.00,2.60,0.18:41.25,0.00,2.24,-0.01:40.37,0.00,0.36,0.19:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,52,40,23:174.7,154.8,173.0,151.0:0,0,0,0:0,0,0,0:32,41,48,60:110,95,82,90:11,5,23,0:chr2 g.92318250C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318253 rs56065405 T A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=1;NP=23;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:A,G,T:35:13:0:0:8,1,26:230,12,821:18.77,0.02,0.00:5.49,-0.13,0.00:13.28,0.16,0.00:0.98,0.00,0.00:0.93,0.00,0.00:0.99,0.00,0.00:40,38,52:240.0,241.0,150.7:0,0,0:0,0,0:46,46,33:100,93,110:22,0,9:chr2 g.92318252T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318263 . A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,G:34:12:0:0:27,7:808,233:0.00,19.14:0.00,8.67:0.00,10.47:0.00,0.95:0.00,0.89:0.00,0.99:52,40:147.9,261.1:0,0:0,0:44,42:98,91:12,14:-,chr2 g.92318262A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318264 rs7371081 A T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=251 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:35:13:0:0:22,1,1,11:627,18,14,290:0.00,0.53,0.21,25.08:0.00,-0.09,-0.09,11.95:0.00,0.61,0.30,13.13:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:41,46,52,31:213.9,202.0,94.0,98.0:0,0,0,0:0,0,0,0:43,59,54,45:91,69,97,102:12,0,0,10:-,chr2 g.92318263A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318314 . A T 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,C,T:40:17:0:0:35,1,4:1146,13,108:0.00,-0.01,7.16:0.00,0.27,4.34:0.00,-0.28,2.82:0.00,0.00,0.59:0.00,0.00,0.73:0.00,0.00,0.43:52,35,36:140.4,287.0,279.8:0,0,0:0,0,0:89,65,46:58,85,99:20,0,3:-,chr2 g.92318313A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318315 rs201976606 T A 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:41:18:0:0:16,25:519,782:47.63,0.00:13.81,0.00:33.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,50:259.8,105.2:0,0:0,0:76,90:72,57:30,20:chr2 g.92318314T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318324 rs112478810 T G 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:42:20:0:0:1,10,31:36,344,982:2.13,29.29,0.00:-0.10,18.56,0.00:2.23,10.73,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:34,42,52:69.0,274.4,136.0:0,0,0:0,0,0:99,65,97:50,79,50:0,25,25:chr2 g.92318323T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318325 rs7340423 A G 18 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,C,G:41:19:0:0:33,1,7:1029,13,226:0.00,0.02,17.90:0.00,0.23,0.60:0.00,-0.21,17.30:0.00,0.00,0.94:0.00,0.00,0.93:0.00,0.00,0.99:52,35,40:153.4,287.0,252.4:0,0,0:0,0,0:96,76,104:49,74,29:24,0,19:-,chr2 g.92318324A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318330 rs148493641 C A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,C:43:21:0:0:4,39:113,1308:7.50,0.00:0.81,0.00:6.70,0.00:0.58,0.00:0.77,0.00:0.89,0.00:40,52:207.8,171.0:0,0:0,0:106,78:34,51:3,31:chr2 g.92318329C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318354 rs199921960 G A 46 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=18;NP=58 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:18:0:0:17,21:488,696:45.52,0.00:16.69,0.00:28.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,52:264.2,90.6:0,0:0,0:86,125:64,23:26,19:chr2 g.92318353G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318357 rs59879096 T G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:G,T:35:15:0:0:5,30:142,932:10.40,0.00:-0.77,0.00:11.17,0.00:0.98,0.00:0.83,0.00:0.95,0.00:40,60:270.0,146.5:0,0:0,0:78,88:72,51:15,42:chr2 g.92318356T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318359 rs142993288 A T 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=51 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:36:16:0:0:20,2,14:610,67,445:0.00,4.65,41.16:0.00,-0.17,13.44:0.00,4.83,27.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,11,40:91.9,228.0,271.1:0,0,0:0,0,0:129,111,88:20,40,62:15,27,22:-,chr2 g.92318358A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318370 . T G 24 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:16:0:0:9,25:280,810:23.76,0.00:14.76,0.00:9.00,0.00:0.99,0.00:0.98,0.00:1.00,0.00:42,50:271.7,145.2:10,0:0,0:64,102:60,33:15,37:chr2 g.92318369T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318371 . CA C 9 nt VT=DEL;SST=Single;DP=32;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:CA,C:32:14:0:7:25,7:799,133:0.00,9.41:0.00,5.82:0.00,3.58:0.00,0.95:0.00,0.94:0.00,0.99:50,40:153.0,273.1:2,0:0,0:103,65:37,59:37,15:-,chr2 g.92318372delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318376 rs371042826 G C 23 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=5;NP=52;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,I:26:14:1:0:1,8,16,1:11,263,543,19:0.09,23.47,0.00,0.73:-0.09,14.36,0.00,0.41:0.18,9.10,0.00,0.32:0.00,0.98,0.00,0.00:0.00,0.98,0.00,0.00:0.00,1.00,0.00,0.00:26,49,50,19:141.0,251.5,148.4,274.0:0,7,0,1:0,0,0,0:145,82,101,106:5,52,44,34:0,21,18,0:chr2 g.92318375G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318382 rs199533413 A C 12 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,C,D:22:14:0:1:16,5,1:532,144,33:0.00,11.78,2.11:0.00,-1.06,2.24:0.00,12.84,-0.13:0.00,0.84,0.00:0.00,0.94,0.00:0.00,0.95,0.00:60,40,41:169.8,267.2,129.0:0,0,0:0,0,0:95,103,113:40,47,37:18,8,0:-,chr2 g.92318381A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318386 rs6594213 A T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:22:14:0:0:15,7:507,231:0.00,20.46:0.00,5.15:0.00,15.32:0.00,0.97:0.00,0.99:0.00,0.99:60,40:194.2,212.3:1,0:0,0:93,107:36,43:23,8:-,chr2 g.92318385A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318389 . T A 33 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:15:0:0:11,13:346,422:32.63,0.00:16.94,0.00:15.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,60:273.6,147.0:0,1:0,0:82,110:42,37:17,10:chr2 g.92318388T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318400 rs7340450 T A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:11:0:0:9,11:257,378:24.01,0.00:9.31,0.00:14.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:35,50:272.1,121.8:0,0:0,0:106,125:31,26:22,6:chr2 g.92318399T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318413 . G A 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;NP=1;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:22:11:0:0:9,12,1:232,366,28:21.21,0.00,1.70:8.57,0.00,0.88:12.63,0.00,0.82:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:42,50,41:272.1,134.5,129.0:0,0,0:0,0,0:99,130,143:39,13,7:8,11,0:chr2 g.92318412G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318443 rs28791042 T A 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,T:10:1:0:0:6,4:203,126:20.24,0.00:-0.40,0.00:20.64,0.00:0.99,0.00:0.73,0.00:1.00,0.00:40,60:265.5,96.5:0,0:0,0:125,118:23,32:4,20:chr2 g.92318442T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318471 rs7370146 G A 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=146 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,G:6:3:0:0:5,1:155,23:16.71,0.00:10.19,0.00:6.52,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:155.4,0.0:0,0:0,0:7,0:143,150:6,0:chr2 g.92318470G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318533 rs4439404 T G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=372 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,G,T:9:6:0:0:1,7,1:10,246,34:0.54,26.52,0.00:0.59,17.66,0.00:-0.05,8.87,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:20,40,60:163.0,131.1,0.0:0,0,0:0,0,0:59,63,62:76,88,88:0,24,0:chr2 g.92318532T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318566 rs1929372 T A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=83 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,T:14:11:0:0:3,11:103,352:8.57,0.00:5.63,0.00:2.95,0.00:0.56,0.00:0.89,0.00:0.62,0.00:40,60:114.3,119.1:0,0:0,0:61,61:90,90:11,39:chr2 g.92318565T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318576 rs4532893 T C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=262;NP=88 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,G,T:17:13:0:0:3,1,13:98,34,385:7.89,2.31,0.00:5.39,2.41,0.00:2.49,-0.10,0.00:0.53,0.00,0.00:0.86,0.00,0.00:0.66,0.00,0.00:40,40,60:133.0,68.0,114.9:0,0,0:0,0,0:21,8,71:130,143,69:11,0,35:chr2 g.92318575T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318593 rs7371311 T A 70 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=505 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G,T:27:19:0:0:21,2,4:647,41,101:69.81,2.92,0.00:54.21,1.61,0.00:15.60,1.31,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,20,60:107.5,213.5,65.2:0,0,0:0,0,0:25,121,36:126,22,49:20,2,12:chr2 g.92318592T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318604 . G A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,G:27:20:0:1:3,24:98,803:7.14,0.00:0.67,0.00:6.47,0.00:0.44,0.00:0.82,0.00:0.74,0.00:43,60:231.7,83.9:0,0:0,0:24,39:127,103:3,25:chr2 g.92318603G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318616 rs10204556 T A 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:38:28:0:0:9,29:281,927:23.36,0.00:15.33,0.00:8.03,0.00:0.99,0.00:1.00,0.00:0.99,0.00:52,60:183.6,79.8:0,1:0,0:9,37:141,112:4,18:chr2 g.92318615T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318621 rs28838929 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=218 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:40:28:0:0:37,3:1158,104:0.00,7.21:0.00,4.88:0.00,2.33:0.00,0.37:0.00,0.77:0.00,0.68:60,50:114.8,87.3:0,0:0,0:33,28:117,122:21,1:-,chr2 g.92318620A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318626 rs28874302 T G 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=49 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:41:30:0:0:14,27:459,848:41.16,0.00:19.87,0.00:21.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:172.4,77.2:0,0:0,0:18,38:132,112:7,21:chr2 g.92318625T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318627 rs4396165 C A 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:41:30:0:0:13,28:432,930:38.29,0.00:20.07,0.00:18.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:175.8,81.5:0,0:0,0:18,42:132,103:5,20:chr2 g.92318626C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318660 rs77652061 C A 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,C:47:34:0:2:7,40:229,1319:17.65,0.00:9.83,0.00:7.82,0.00:0.93,0.00:0.98,0.00:0.97,0.00:51,60:146.1,107.4:0,0:0,0:39,56:111,89:14,21:chr2 g.92318659C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318661 rs4097608 A T 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:A,T:49:35:0:0:41,8:1380,266:0.00,20.95:0.00,10.36:0.00,10.59:0.00,0.96:0.00,0.99:0.00,0.99:60,52:101.4,167.9:2,0:0,0:57,53:85,97:22,26:-,chr2 g.92318660A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318747 rs6594220 C G 141 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.6028,A/.,G/0.3972;NP=988 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C,G:41:24:0:0:2,39:67,1259:0.00,140.92:0.00,58.85:0.00,82.06:0.00,1.00:0.00,1.00:0.00,1.00:51,60:127.0,116.0:0,0:0,0:56,112:94,35:42,23:chr2 g.92318746C>G (intergenic),chr2 g.92318746C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92318769 rs4090158 G A 63 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.6853,A/0.3147;NP=466 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:39:20:0:0:21,17,1:642,520,10:62.87,0.00,0.03:27.68,0.00,0.13:35.18,0.00,-0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,52,51:115.2,88.7,165.0:0,0,0:0,0,0:113,88,134:38,63,17:20,56,0:chr2 g.92318768G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318781 rs148739489 T A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=176 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,T:39:23:0:0:4,35:141,1141:10.41,0.00:1.97,0.00:8.43,0.00:0.59,0.00:0.83,0.00:0.80,0.00:43,51:179.2,90.9:0,0:0,0:92,95:47,56:23,42:chr2 g.92318780T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318792 rs4345847 G T 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=158 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,T:36:21:0:0:32,4:1061,125:0.00,8.96:0.00,6.73:0.00,2.23:0.00,0.61:0.00,0.83:0.00,0.79:51,41:100.2,134.5:0,0:0,0:61,63:86,87:43,54:-,chr2 g.92318791G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318809 rs28769616 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C,G:39:26:0:0:34,1,4:1052,12,141:0.00,-0.06,10.46:0.00,0.10,11.09:0.00,-0.15,-0.63:0.00,0.00,0.59:0.00,0.00,0.86:0.00,0.00,0.69:41,4,40:92.1,183.0,94.8:0,0,0:0,0,0:39,43,38:112,106,112:29,0,3:-,chr2 g.92318808A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318832 rs6594222 C T 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=494 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:61:46:0:0:38,1,22:1197,5,747:0.00,-0.23,68.07:0.00,-0.18,33.28:0.00,-0.05,34.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,4,40:80.7,183.0,126.3:0,0,0:0,0,0:24,66,32:123,83,118:19,0,22:-,chr2 g.92318831C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318852 rs11689102 C A 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,C,T:74:57:0:0:8,65,1:266,2251,20:19.46,0.00,0.31:16.49,0.00,0.45:2.97,0.00,-0.14:0.94,0.00,0.00:0.99,0.00,0.00:0.92,0.00,0.00:40,51,11:98.4,92.3,41.0:0,0,0:0,0,0:21,39,8:130,110,120:7,20,0:chr2 g.92318851C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318863 rs10793781 T A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=239 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:A,C,G,T:72:56:0:0:9,1,2,60:282,34,22,1941:20.90,1.66,-0.16,0.00:16.47,0.77,0.10,0.00:4.43,0.89,-0.26,0.00:0.97,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.95,0.00,0.00,0.00:43,24,51,50:132.9,103.0,158.5,78.8:0,0,0,0:0,0,0,0:56,35,48,42:85,116,103,106:27,0,28,15:chr2 g.92318862T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318939 rs10204868 T C 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=346 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:89:69:0:0:16,73:516,2382:41.04,0.00:32.60,0.00:8.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,43:123.9,74.8:0,1:0,0:96,87:54,61:31,34:chr2 g.92318938T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92318963 rs6733271 G T 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:86:62:0:0:3,69,14:95,2131,449:5.51,0.00,35.24:0.68,0.00,27.12:4.83,0.00,8.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,51,41:47.3,75.2,131.9:0,0,1:0,0,0:48,107,106:103,40,43:8,32,22:-,chr2 g.92318962G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92318982 rs4115648 A G 114 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=418 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:67:40:0:0:16,1,39,11:511,10,1105,310:0.00,0.04,113.56,26.43:0.00,-0.04,78.18,9.61:0.00,0.08,35.39,16.82:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:50,20,40,43:88.2,197.0,96.1,70.5:0,0,0,0:0,0,0,0:90,83,89,72:60,64,55,78:28,0,24,33:-,chr2 g.92318981A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319145 rs6594224 T A 346 nt VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=1017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:50:0:0:90:3030:345.85:132.61:213.24:1.00:1.00:1.00:52:124.7:0:0:87:51:30:chr2 g.92319144T>A (intergenic),chr2 g.92319144T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92319149 rs7596140 C A 294 nt VT=SNV;PN=A;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=429 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,C:88:46:0:0:82,6:2645,202:294.04,0.00:103.22,0.00:190.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,51:125.0,128.7:0,0:0,0:103,81:46,48:31,22:chr2 g.92319148C>A (intergenic),chr2 g.92319148C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92319158 rs4093789 A T 222 nt VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=395 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,C,T:75:40:0:0:9,2,64:266,66,2034:0.00,4.32,221.97:0.00,1.96,74.90:0.00,2.36,147.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:51,43,52:112.9,150.5,128.3:0,0,0:0,0,0:95,140,98:55,10,52:30,6,20:-,chr2 g.92319157A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319245 rs4480422 A C 103 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=186 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,C,G:36:11:0:5:6,29,1:204,966,33:0.00,103.42,2.15:0.00,14.97,-0.05:0.00,88.45,2.20:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:41,40,41:98.8,120.4,136.0:0,0,0:0,0,0:17,84,143:61,67,8:12,41,0:-,chr2 g.92319244A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319246 rs56360023 T C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,C,T:42:14:0:0:1,5,36:24,154,1177:0.90,11.19,0.00:-0.10,5.28,0.00:1.00,5.91,0.00:0.00,0.76,0.00:0.00,0.75,0.00:0.00,0.95,0.00:33,30,41:219.0,76.4,116.8:0,0,0:0,0,0:139,86,71:10,63,63:0,3,45:chr2 g.92319245T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319250 rs7425744 T C 24 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:14:0:0:9,32:288,1016:23.73,0.00:11.27,0.00:12.46,0.00:0.99,0.00:0.94,0.00:0.95,0.00:35,41:89.6,121.1:5,0:0,0:84,77:66,56:27,46:chr2 g.92319249T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319306 rs28857817 T G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:C,G,T:33:13:0:0:1,4,28:25,113,858:1.10,8.06,0.00:1.36,3.11,0.00:-0.26,4.95,0.00:0.00,0.62,0.00:0.00,0.73,0.00:0.00,0.89,0.00:22,40,40:93.0,120.2,90.1:0,0,0:0,0,0:140,88,94:10,30,49:0,9,40:chr2 g.92319305T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319377 rs4086726 C T 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=320 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G,T:19:7:0:0:2,1,16:67,5,523:0.00,0.06,57.13:0.00,0.11,12.71:0.00,-0.05,44.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:24,16,40:41.0,119.0,113.3:0,0,0:0,0,0:97,51,74:54,70,69:11,0,20:-,chr2 g.92319376C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319538 rs4387234 G C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:141:16.01:3.98:12.03:1.00:1.00:1.00:27:92.5:0:0:91:58:12:chr2 g.92319537G>C (intergenic),chr2 g.92319537G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92319750 rs7605349 T G 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=157 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:386:43.85:43.85:0.00:1.00:1.00:0.00:37:141.3:0:0:52:98:18:chr2 g.92319749T>G (intergenic),chr2 g.92319749T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92319757 rs201442654 C T 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=552 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:11:11:0:0:6,5:211,166:0.00,15.69:0.00,15.69:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:25,37:123.8,162.2:0,0:0,0:59,59:91,91:15,33:-,chr2 g.92319756C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319769 rs148092950 G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,G:14:14:0:0:5,9:168,297:15.22,0.00:15.22,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:37,40:155.8,141.4:0,0:0,0:71,59:79,87:33,28:chr2 g.92319768G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319793 rs28841115 T A 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=367 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:17:0:0:17:543:62.41:62.41:0.00:1.00:1.00:0.00:40:142.8:0:0:70:79:43:chr2 g.92319792T>A (intergenic),chr2 g.92319792T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92319820 rs59126935 C A 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=275;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,C,T:37:31:0:0:3,33,1:98,1119,33:6.75,0.00,1.82:7.06,0.00,1.92:-0.31,0.00,-0.10:0.38,0.00,0.00:0.83,0.00,0.00:0.53,0.00,0.00:29,51,23:168.0,114.5,101.0:0,0,0:0,0,0:23,21,97:128,129,52:3,16,0:chr2 g.92319819C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319822 rs371774656 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,C,T:38:32:0:0:1,31,6:11,1029,197:-0.08,0.00,15.44:-0.29,0.00,9.79:0.21,0.00,5.66:0.00,0.00,0.88:0.00,0.00,0.98:0.00,0.00,0.81:51,51,51:127.0,111.5,143.3:0,0,0:0,0,0:12,25,16:139,123,134:0,22,5:-,chr2 g.92319821C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319828 rs112701293 A C 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=127;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,C,G:42:35:0:0:35,6,1:1127,205,32:0.00,15.95,1.69:0.00,10.79,1.80:0.00,5.16,-0.11:0.00,0.87,0.00:0.00,0.98,0.00:0.00,0.88,0.00:51,51,37:111.8,159.0,98.0:0,0,0:0,0,0:27,25,7:123,124,144:18,10,0:-,chr2 g.92319827A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319831 rs9798427 A G 7 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=232 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,G:40:33:0:0:36,4:1169,111:0.00,7.41:0.00,4.10:0.00,3.31:0.00,0.59:0.00,0.91:0.00,0.75:51,35:117.2,112.2:0,0:0,0:25,10:125,139:10,2:-,chr2 g.92319830A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319832 rs61711603 C T 96 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=402 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:41:34:0:0:1,12,28:32,384,937:1.93,0.00,96.44:1.97,0.00,63.07:-0.04,0.00,33.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,35,51:65.0,124.2,115.8:0,0,0:0,0,0:13,33,24:138,117,126:0,24,9:-,chr2 g.92319831C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92319930 rs57163997 T C 149 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=385 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:43:0:0:43,21:1464,709:149.32,0.00:72.30,0.00:77.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,51:83.0,115.4:8,0:0,0:90,103:52,36:19,28:chr2 g.92319929T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319964 rs144531843 G A 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,G:47:24:0:0:4,43:133,1350:9.27,0.00:2.07,0.00:7.20,0.00:0.56,0.00:0.77,0.00:0.88,0.00:37,51:239.2,74.2:0,0:0,0:91,122:51,22:12,17:chr2 g.92319963G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319965 . G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=47;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G,T:47:24:0:0:4,41,2:135,1373,66:9.55,0.00,4.04:2.19,0.00,0.90:7.36,0.00,3.14:0.56,0.00,0.00:0.77,0.00,0.00:0.88,0.00,0.00:37,51,23:239.2,73.5,124.0:0,0,0:0,0,0:92,112,133:50,28,18:12,23,5:chr2 g.92319964G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319976 . T A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,T:37:15:0:0:4,33:139,1080:10.31,0.00:2.37,0.00:7.94,0.00:0.60,0.00:0.73,0.00:0.89,0.00:37,43:239.2,80.6:0,0:0,0:103,111:39,32:12,23:chr2 g.92319975T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319986 rs77434989 T G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:G,T:31:10:0:0:6,25:197,768:15.96,0.00:2.41,0.00:13.54,0.00:0.90,0.00:0.83,0.00:0.98,0.00:40,42:225.2,77.9:0,0:0,0:117,101:23,50:12,32:chr2 g.92319985T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92319987 rs151075858 C A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,C:30:8:0:0:5,25:164,808:12.92,0.00:2.72,0.00:10.20,0.00:0.80,0.00:0.72,0.00:0.68,0.00:37,42:217.4,86.7:0,1:0,0:121,102:24,49:14,28:chr2 g.92319986C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320013 rs59365417 T G 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=300 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:2:0:0:20:624:71.90:6.55:65.35:1.00:1.00:1.00:40:107.8:0:0:109:38:26:chr2 g.92320012T>G (intergenic),chr2 g.92320012T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92320057 rs28760001 C T 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=275 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:3:0:0:14:442:50.86:7.28:43.58:1.00:1.00:1.00:40:114.4:0:0:71:78:55:chr2 g.92320056C>T (intergenic),chr2 g.92320056C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92320067 rs201577366 T C 24 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:11:0:0:8,14:262,439:23.75,0.00:17.27,0.00:6.49,0.00:0.99,0.00:0.82,0.00:1.00,0.00:40,40:181.2,104.9:0,0:0,0:6,81:124,59:2,50:chr2 g.92320066T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320077 rs200128225 G T 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:12:0:0:12,9:375,301:0.00,28.17:0.00,19.93:0.00,8.24:0.00,1.00:0.00,1.00:0.00,1.00:40,40:105.0,168.8:0,0:0,0:75,15:58,114:43,3:-,chr2 g.92320076G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320090 rs62148469 A G 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=590 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:13:0:0:11,10:356,352:0.00,33.66:0.00,22.91:0.00,10.74:0.00,1.00:0.00,1.00:0.00,1.00:40,40:108.5,169.2:0,0:0,0:76,28:47,101:32,4:-,chr2 g.92320089A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320114 rs62148470 T G 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1306 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:14:0:0:10,10:348,302:33.58,0.00:22.62,0.00:10.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:159.5,122.3:0,0:0,0:52,73:74,47:4,18:chr2 g.92320113T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320143 rs28853372 A T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=95 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,T:16:13:0:0:11,5:325,145:0.00,12.56:0.00,2.92:0.00,9.65:0.00,0.99:0.00,0.98:0.00,0.96:40,36:154.0,118.0:0,0:0,0:81,97:48,46:5,3:-,chr2 g.92320142A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320167 rs76530356 C G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1165 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,G:12:9:0:0:5,7:166,168:0.00,16.36:0.00,10.96:0.00,5.40:0.00,0.99:0.00,1.00:0.00,1.00:40,40:95.2,162.6:0,0:0,0:105,105:25,25:16,3:-,chr2 g.92320166C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320194 rs74436683 C G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=574 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,G:6:3:0:0:3,3:68,76:0.00,7.23:0.00,6.38:0.00,0.84:0.00,0.98:0.00,0.89:0.00,0.51:52,40:100.7,185.0:0,0:0,0:34,132:115,13:16,6:-,chr2 g.92320193C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320196 rs62148471 G A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=456 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,G:6:3:0:0:4,2:99,43:10.11,0.00:8.05,0.00:2.06,0.00:0.93,0.00:0.97,0.00:0.99,0.00:40,52:159.2,110.0:0,0:0,0:124,85:14,64:13,65:chr2 g.92320195G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320238 rs9712316 T G 10 sb;end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:G,T:5:3:0:0:4,1:92,10:10.01,0.00:9.31,0.00:0.70,0.00:0.96,0.00:0.99,0.00:0.97,0.00:40,52:95.2,151.0:0,0:0,0:5,62:131,86:0,0:chr2 g.92320237T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320303 rs111413834 A G 63 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:42:37:0:0:21,1,20:640,12,656:0.00,0.09,62.81:0.00,-0.18,62.08:0.00,0.27,0.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:52,1,40:101.7,186.0,238.3:0,0,0:0,0,0:50,13,24:100,138,127:20,0,8:-,chr2 g.92320302A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320304 rs10207992 A T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,T:43:38:0:0:38,5:1157,137:0.00,9.48:0.00,9.77:0.00,-0.29:0.00,0.75:0.00,0.96:0.00,0.50:52,40:176.5,98.4:0,0:0,0:31,19:117,130:17,14:-,chr2 g.92320303A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320342 rs4540715 A G,T 156 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.4429,G/0.5571,T/.;NP=397 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:200:A,G,T:65:52:0:0:3,19,43:57,558,1445:0.00,54.25,155.93:0.00,45.94,106.01:0.00,8.31,49.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,41,51:124.7,138.8,219.6:0,0,0:0,0,0:100,57,44:48,92,104:10,20,21:chr2 g.92320341A>G (intergenic),chr2 g.92320341A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92320344 rs71283436 T G 137 nt VT=SNV;PN=T;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:73:57:0:0:44,29:1378,882:137.44,0.00:82.96,0.00:54.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,43:235.9,113.9:0,0:0,0:29,59:121,90:24,32:chr2 g.92320343T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320355 rs78705506 T A 174 nt VT=SNV;PN=A;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=46 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:80:64:0:0:54,26:1706,766:174.47,0.00:99.84,0.00:74.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,43:233.0,93.5:0,0:0,0:37,76:113,74:23,26:chr2 g.92320354T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320364 rs202020902 T G 175 nt VT=SNV;PN=A;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:90:73:0:0:52,38:1772,1140:175.42,0.00:96.42,0.00:79.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,51:219.4,128.0:0,0:0,0:42,60:108,87:22,40:chr2 g.92320363T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320394 rs200205518 G A 224 nt VT=SNV;PN=A;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:101:81:0:0:70,31:2179,1003:224.18,0.00:119.48,0.00:104.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,43:218.5,92.8:0,0:0,0:61,51:82,91:27,38:chr2 g.92320393G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320397 rs201267542 T G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:C,G,T:97:76:0:0:1,11,85:34,324,2675:1.51,22.92,0.00:0.73,18.82,0.00:0.78,4.10,0.00:0.00,0.99,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,45,58:181.0,243.9,167.1:0,0,0:0,0,0:23,24,58:79,114,79:0,7,23:chr2 g.92320396T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320399 rs112613935 A T 235 nt VT=SNV;PN=C;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=87 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:102:81:0:0:31,1,70:939,8,2290:0.00,-0.07,235.36:0.00,-0.03,119.32:0.00,-0.05,116.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,23,58:93.1,278.0,218.3:0,0,0:0,0,0:53,150,60:97,1,77:31,0,22:-,chr2 g.92320398A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320422 rs79578857 A C 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=196 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:109:77:0:0:91,18:2974,539:0.00,41.34:0.00,20.64:0.00,20.70:0.00,1.00:0.00,1.00:0.00,1.00:58,52:169.6,221.2:0,0:0,0:79,33:54,103:26,13:-,chr2 g.92320421A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320435 rs4393208 T G 79 nt VT=SNV;PN=A;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:112:73:0:0:1,29,82:12,930,2663:-0.18,79.15,0.00:0.00,31.50,0.00:-0.18,47.65,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:21,40,58:117.0,104.2,196.8:0,0,0:0,0,0:131,61,90:20,88,41:0,27,27:chr2 g.92320434T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320445 rs9712321 T C 150 nt VT=SNV;PN=A;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=227 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:112:71:0:0:47,65:1602,2037:149.58,0.00:48.08,0.00:101.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,52:198.1,136.3:0,0:0,0:106,65:31,79:11,21:chr2 g.92320444T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320474 rs199570535 G C 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.9986,C/.,T/0.001398;NP=110 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:104:56:0:0:1,20,83:28,665,2690:0.94,54.05,0.00:1.16,17.99,0.00:-0.22,36.06,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:21,52,58:84.0,233.9,136.9:0,0,0:0,0,0:56,96,111:95,43,30:0,17,24:chr2 g.92320473G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320483 rs57615888 T A 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=81 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:65:35:0:0:23,42:764,1325:69.04,0.00:26.86,0.00:42.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,43:216.3,84.7:0,0:0,0:104,81:41,69:17,27:chr2 g.92320482T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320508 rs56339353 C T 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.1791,A/0.8209;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:29:0:0:47,10:1489,328:0.00,26.08:0.00,10.61:0.00,15.47:0.00,0.99:0.00,0.98:0.00,1.00:41,52:96.4,227.8:0,0:0,0:103,111:48,19:25,9:-,chr2 g.92320507C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320512 rs56406990 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.1791,A/.,C/0.8209;NP=2;NP=583 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:28:0:0:10,43:304,1346:24.05,0.00:12.93,0.00:11.12,0.00:0.99,0.00:0.99,0.00:1.00,0.00:52,41:247.5,88.9:0,0:0,0:115,101:15,49:9,21:chr2 g.92320511T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320516 rs9798311 G T 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:50:24:0:0:33,17:1117,534:0.00,47.59:0.00,5.30:0.00,42.29:0.00,1.00:0.00,1.00:0.00,1.00:52,40:123.0,135.4:0,0:0,0:105,115:42,35:20,10:-,chr2 g.92320515G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320517 rs55721533 A T 44 nt VT=SNV;PN=G;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:49:23:0:0:31,2,16:1039,67,494:0.00,4.32,43.93:0.00,0.96,3.25:0.00,3.36,40.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:52,40,40:120.4,234.0,139.7:0,0,0:0,0,0:99,118,115:51,13,34:18,7,9:-,chr2 g.92320516A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320525 . A G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:19:0:0:36,8:1105,273:0.00,22.07:0.00,8.85:0.00,13.22:0.00,0.97:0.00,0.95:0.00,1.00:41,52:97.2,235.6:0,0:0,0:109,128:41,10:16,8:-,chr2 g.92320524A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320536 rs112384617 C A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=8;NP=98 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,C:36:17:0:0:4,32:108,1011:7.31,0.00:1.50,0.00:5.81,0.00:0.61,0.00:0.77,0.00:0.91,0.00:52,40:213.8,88.8:0,0:0,0:124,109:20,41:6,27:chr2 g.92320535C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320565 rs9712327 T A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:15:0:0:8,15:245,453:21.87,0.00:4.57,0.00:17.30,0.00:0.99,0.00:0.99,0.00:1.00,0.00:40,42:117.5,30.7:0,0:0,0:86,75:63,76:18,52:chr2 g.92320564T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320604 rs9711734 G C 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.8089,A/.,C/0.1911,T/.;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:32:C,G:28:11:0:0:3,25:93,866:6.59,0.00:4.50,0.00:2.10,0.00:0.44,0.00:0.64,0.00:0.78,0.00:39,42:216.7,69.3:0,0:0,0:55,93:95,57:23,31:chr2 g.92320603G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320644 rs55646772 A G 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G:22:11:0:0:19,3:599,87:0.00,6.33:0.00,-0.60:0.00,6.93:0.00,0.48:0.00,0.73:0.00,0.80:42,24:102.9,114.7:0,0:0,0:95,70:55,43:33,36:-,chr2 g.92320643A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320671 rs9712228 A C 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,C,T:16:9:0:0:6,9,1:170,313,33:0.00,31.21,2.40:0.00,17.83,2.52:0.00,13.37,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,40,12:114.3,128.4,154.0:0,0,2:0,0,0:109,99,97:26,52,28:21,10,0:-,chr2 g.92320670A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320712 rs111269351 C A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=125 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,C:15:7:0:0:4,11:111,349:9.23,0.00:3.87,0.00:5.36,0.00:0.76,0.00:0.86,0.00:0.93,0.00:25,42:145.0,109.1:0,0:0,0:70,92:80,59:22,44:chr2 g.92320711C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320805 rs9712238 A C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=372 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,C:11:4:0:0:5,6:167,203:0.00,19.87:0.00,2.86:0.00,17.01:0.00,0.98:0.00,0.96:0.00,1.00:24,40:120.2,119.7:0,0:0,0:98,55:39,95:34,47:-,chr2 g.92320804A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92320868 rs4085651 T A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=30;NP=34 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,T:6:2:0:0:3,3:84,101:8.02,0.00:2.47,0.00:5.55,0.00:0.98,0.00:0.79,0.00:0.51,0.00:23,40:145.3,140.0:0,0:0,0:76,80:72,71:22,8:chr2 g.92320867T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320885 rs10194557 G C 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=298 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:2:0:0:6:192:22.06:6.05:16.01:1.00:1.00:1.00:40:142.7:0:0:95:54:11:chr2 g.92320884G>C (intergenic),chr2 g.92320884G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92320952 rs143167535 T C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,T:15:9:0:0:5,10:159,337:14.14,0.00:11.72,0.00:2.42,0.00:0.89,0.00:0.64,0.00:0.42,0.00:40,40:105.6,120.3:2,0:0,0:18,31:132,120:9,17:chr2 g.92320951T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92320975 rs2132064 C A 69 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=390 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,C,T:23:18:0:1:20,1,2:620,33,47:69.43,0.00,3.56:49.38,0.00,2.90:20.05,0.00,0.66:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,40:115.7,68.0,72.5:0,0,0:0,0,0:31,21,46:119,61,104:14,0,42:chr2 g.92320974C>A (intergenic),chr2 g.92320974C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92321008 rs140772079 T G 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:G,T:36:28:0:0:5,31:172,950:13.29,0.00:7.65,0.00:5.64,0.00:0.78,0.00:0.95,0.00:0.84,0.00:22,46:185.8,82.8:0,0:0,0:37,37:113,112:5,24:chr2 g.92321007T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321072 rs56972372 T A 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=89 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,T:31:26:0:0:6,25:189,715:15.16,0.00:15.96,0.00:-0.79,0.00:0.90,0.00:0.99,0.00:0.87,0.00:31,45:140.3,86.1:0,0:0,0:101,99:47,49:6,17:chr2 g.92321071T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321129 rs9712326 A G 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5743,G/0.4257;NP=98 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A,G:9:6:0:0:1,8:12,270:0.00,29.52:0.00,16.03:0.00,13.49:0.00,1.00:0.00,1.00:0.00,1.00:22,45:101.0,80.8:0,0:0,0:132,132:19,13:0,12:chr2 g.92321128A>G (intergenic),chr2 g.92321128A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92321143 rs4616040 T C 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6078,C/0.3922,G/.;NP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:150:17.38:9.53:7.85:1.00:1.00:1.00:40:100.6:0:0:144:7:4:chr2 g.92321142T>C (intergenic),chr2 g.92321142T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92321214 rs62148475 C T 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,T:24:9:0:0:20,4:564,118:0.00,9.04:0.00,1.33:0.00,7.71:0.00,0.68:0.00,0.75:0.00,0.68:51,40:130.1,50.8:0,0:0,0:48,62:102,87:17,2:-,chr2 g.92321213C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321216 rs200129120 C A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=156 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:24:9:0:0:7,17:236,539:20.66,0.00:9.75,0.00:10.91,0.00:0.97,0.00:0.93,0.00:0.97,0.00:51,40:229.6,75.6:0,0:0,0:18,62:132,89:7,4:chr2 g.92321215C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321245 rs55912960 T A 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=96 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:26:9:0:0:9,17:265,517:23.50,0.00:11.37,0.00:12.13,0.00:0.99,0.00:0.96,0.00:0.99,0.00:51,43:220.6,63.6:0,0:0,0:54,89:96,62:11,8:chr2 g.92321244T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321261 rs113577919 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=49 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:9:0:0:19,7:523,237:0.00,20.52:0.00,9.62:0.00,10.90:0.00,0.96:0.00,0.91:0.00,0.96:43,53:71.3,222.7:0,0:0,0:107,63:44,87:4,10:-,chr2 g.92321260C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321272 . A G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:26:9:0:0:19,7:569,224:0.00,19.17:0.00,10.12:0.00,9.05:0.00,0.96:0.00,0.91:0.00,0.96:43,51:71.0,234.0:0,0:0,0:118,74:33,76:4,14:-,chr2 g.92321271A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321284 rs58260021 G C 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:25:8:0:0:7,17,1:227,559,10:19.75,0.00,0.01:10.08,0.00,-0.02:9.67,0.00,0.03:0.96,0.00,0.00:0.90,0.00,0.00:0.96,0.00,0.00:51,40,43:235.9,59.9,94.0:0,0,0:0,0,0:86,130,64:59,21,87:16,4,0:chr2 g.92321283G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321289 rs113082583 C G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=36 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,G:26:9:0:0:19,7:604,220:0.00,18.77:0.00,10.02:0.00,8.75:0.00,0.96:0.00,0.91:0.00,0.96:43,51:71.3,230.9:0,0:0,0:135,98:16,52:4,10:-,chr2 g.92321288C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321306 rs113107992 T C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:7:0:0:7,10:245,303:22.85,0.00:8.85,0.00:14.00,0.00:0.98,0.00:0.96,0.00:0.98,0.00:51,43:234.0,109.0:0,0:0,0:108,110:42,34:14,17:chr2 g.92321305T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321310 . A G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;NP=43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:16:7:0:0:13,3:388,106:0.00,8.68:0.00,1.40:0.00,7.28:0.00,0.54:0.00,0.73:0.00,0.54:51,24:172.4,131.7:0,0:0,0:112,111:33,40:16,3:-,chr2 g.92321309A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321315 rs9712333 A T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5637,T/0.4363;NP=180 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,T:15:7:0:0:12,3:387,100:0.00,8.17:0.00,-0.34:0.00,8.51:0.00,0.55:0.00,0.75:0.00,0.55:51,40:191.3,87.7:0,0:0,0:114,129:33,22:9,10:-,chr2 g.92321314A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321321 rs62148476 T C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=160 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:C,T:15:6:0:0:4,11:120,373:10.13,0.00:-0.40,0.00:10.53,0.00:0.76,0.00:0.82,0.00:0.76,0.00:43,53:97.5,197.8:0,0:0,0:125,109:17,27:12,2:chr2 g.92321320T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321351 rs9712335 A C,T 14 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=183 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:21:A,C,T:6:1:0:0:1,4,1:9,128,32:0.00,13.57,2.83:0.00,1.85,0.00:0.00,11.72,2.83:0.00,0.93,0.00:0.00,0.78,0.00:0.00,0.93,0.00:43,47,50:94.0,182.0,261.0:0,0,0:0,0,0:131,140,139:20,9,11:0,2,0:chr2 g.92321350A>C (intergenic),chr2 g.92321350A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92321487 rs6594227 G C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=364 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:194:22.26:16.30:5.97:1.00:1.00:1.00:43:172.3:0:0:14:134:12:chr2 g.92321486G>C (intergenic),chr2 g.92321486G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92321516 rs75134946 T G 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=319 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:G,T:11:10:0:0:7,4:242,137:24.41,0.00:19.50,0.00:4.91,0.00:1.00,0.00:1.00,0.00:0.99,0.00:49,50:184.9,110.2:0,0:0,0:30,20:120,119:3,5:chr2 g.92321515T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92321522 rs7419720 T A 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=390 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,C:12:10:0:0:11,1:364,25:41.23,1.90:29.66,0.00:11.57,1.90:1.00,0.00:1.00,0.00:1.00,0.00:50,14:157.9,85.0:0,0:0,0:34,1:113,150:4,0:chr2 g.92321521T>A (intergenic),chr2 g.92321521T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92321540 rs6594228 A T 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=478 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,T:14:12:0:0:4,10:130,322:0.00,33.33:0.00,25.24:0.00,8.09:0.00,1.00:0.00,1.00:0.00,0.98:22,50:140.8,160.7:0,0:0,0:11,53:140,95:9,3:-,chr2 g.92321539A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321636 rs6594229 C G 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=316 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G:12:6:0:0:2,10:45,341:0.00,36.60:0.00,20.69:0.00,15.91:0.00,1.00:0.00,0.99:0.00,1.00:14,41:108.0,118.1:0,0:0,0:101,97:33,52:13,8:-,chr2 g.92321635C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321723 rs4399333 T A,G 7 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=115 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,G,T:4:3:0:0:2,1,1:65,35,34:6.55,3.25,0.00:3.13,1.63,0.00:3.43,1.63,0.00:0.51,0.00,0.00:0.89,0.00,0.00:0.89,0.00,0.00:36,6,40:117.5,276.0,34.0:0,0,0:0,0,0:22,36,129:128,106,-27:20,0,0:chr2 g.92321722T>A (intergenic),chr2 g.92321722T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92321748 rs201559630 C T 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:3:0:0:3,2:101,70:0.00,6.49:0.00,3.36:0.00,3.14:0.00,0.46:0.00,0.80:0.00,0.87:36,37:89.0,263.5:0,0:0,0:27,33:123,94:9,4:-,chr2 g.92321747C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92321752 rs4539199 G T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=42 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,G,T:6:4:0:0:1,2,3:36,71,98:3.14,0.00,9.73:1.57,0.00,3.07:1.57,0.00,6.65:0.00,0.00,0.98:0.00,0.00,0.51:0.00,0.00,0.96:6,39,36:276.0,149.5,89.0:0,0,0:0,0,0:65,7,31:77,116,119:0,4,9:-,chr2 g.92321751G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92322814 . T G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:G,T:6:5:0:0:2,4:72,109:6.51,0.00:6.69,0.00:-0.18,0.00:0.42,0.00:0.86,0.00:0.56,0.00:23,23:118.0,132.0:0,0:0,0:70,91:80,58:7,14:chr2 g.92322813T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92323114 rs56883359 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9643,A/.,G/0.03574;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:6:6:0:0:2,4:69,133:0.00,13.55:0.00,13.55:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:27,30:35.0,111.2:0,0:0,0:25,16:125,134:6,9:-,chr2 g.92323113C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92323161 rs9710957 T G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:G,T:9:9:0:0:6,3:213,102:21.67,0.00:15.87,0.00:5.80,0.00:0.99,0.00:0.99,0.00:0.97,0.00:40,27:104.0,44.0:0,0:0,0:44,66:105,85:25,0:chr2 g.92323160T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92323250 rs4319390 C T 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=323 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,T:16:8:0:0:4,12:127,376:0.00,39.39:0.00,16.78:0.00,22.60:0.00,1.00:0.00,1.00:0.00,1.00:23,40:49.8,90.0:0,0:0,0:40,89:109,44:23,22:-,chr2 g.92323249C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92323559 rs74798838 C T 15 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:131:15.01:13.12:1.89:1.00:1.00:1.00:25:117.0:0:0:13:127:5:chr2 g.92323558C>T (intergenic),chr2 g.92323558C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92323655 rs1929374 C A 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.861,A/0.139,G/.,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,C:18:17:0:0:17,1:529,36:59.29,0.00:45.92,0.00:13.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,41:88.2,66.0:0,0:0,0:78,41:64,50:24,0:chr2 g.92323654C>A (intergenic),chr2 g.92323654C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92323668 . T C 19 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:20:0:0:7,15:213,508:18.66,0.00:11.76,0.00:6.90,0.00:0.97,0.00:1.00,0.00:0.99,0.00:40,43:91.3,76.6:1,0:0,0:7,101:144,41:0,29:chr2 g.92323667T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92323817 rs3916588 G C,T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=684 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:19:C,T:8:5:0:0:7,1:205,34:23.40,2.97:11.44,1.49:11.96,1.49:1.00,0.00:1.00,0.00:1.00,0.00:40,40:130.4,166.0:0,0:0,0:75,23:75,87:30,0:chr2 g.92323816G>C (intergenic),chr2 g.92323816G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92323818 rs4306291 T A 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=68 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,T:8:5:0:0:7,1:230,35:25.03,0.00:14.72,0.00:10.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:130.4,166.0:0,0:0,0:76,24:74,86:30,0:chr2 g.92323817T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324045 rs28866275 T C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4397,C/0.5603;NP=210 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:133:15.21:11.13:4.08:1.00:1.00:1.00:24:99.5:0:0:17:134:16:chr2 g.92324044T>C (intergenic),chr2 g.92324044T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92324244 rs7369372 T G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=185 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:2:0:0:6:202:23.06:8.05:15.01:1.00:1.00:1.00:31:148.0:0:0:30:117:6:chr2 g.92324243T>G (intergenic),chr2 g.92324243T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92324245 rs7369373 T G 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=171 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:2:0:0:6:205:23.36:7.55:15.81:1.00:1.00:1.00:31:148.0:0:0:31:116:6:chr2 g.92324244T>G (intergenic),chr2 g.92324244T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92324281 rs4093788 G C 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6338,C/0.3662;NP=57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:3:0:0:7:237:27.04:11.23:15.81:1.00:1.00:1.00:31:124.7:0:0:63:86:7:chr2 g.92324280G>C (intergenic),chr2 g.92324280G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92324320 rs6594238 T C 68 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:12:0:0:19:589:67.89:45.62:22.26:1.00:1.00:1.00:40:117.4:0:0:20:130:13:chr2 g.92324319T>C (intergenic),chr2 g.92324319T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92324343 . CT C 16 nt VT=DEL;SST=Single;DP=32;NP=18;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:CT,C:32:25:0:9:23,9:695,200:0.00,16.01:0.00,14.44:0.00,1.57:0.00,0.99:0.00,1.00:0.00,0.87:40,44:120.0,137.1:0,0:0,0:35,19:114,132:25,10:-,chr2 g.92324344delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324348 rs7421135 T C 31 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:35:28:0:0:1,11,23:34,351,727:2.05,31.06,0.00:2.12,28.87,0.00:-0.08,2.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.91,0.00:40,44,40:102.0,144.4,118.4:1,8,0:0,0,0:15,23,38:136,128,109:0,22,27:chr2 g.92324347T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324374 . C G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;NP=359 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,G:63:59:0:0:54,9:1789,315:0.00,24.58:0.00,24.88:0.00,-0.30:0.00,0.98:0.00,1.00:0.00,0.53:44,40:148.3,211.7:0,0:0,0:40,37:109,95:19,6:-,chr2 g.92324373C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324379 rs28886722 T C 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:C,G,T:65:60:0:0:8,2,55:278,20,1735:21.21,-0.24,0.00:21.52,-0.16,0.00:-0.31,-0.08,0.00:0.95,0.00,0.00:1.00,0.00,0.00:0.52,0.00,0.00:20,40,44:229.2,100.0,145.3:0,0,0:0,0,0:42,52,42:90,96,106:6,25,18:chr2 g.92324378T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324381 . T C 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:60:0:0:13,52:457,1561:37.79,0.00:36.59,0.00:1.21,0.00:1.00,0.00:1.00,0.00:0.71,0.00:37,44:252.8,129.6:0,0:0,0:28,46:118,99:14,17:chr2 g.92324380T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324404 rs80353049 T G 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:63:0:0:27,44:806,1296:72.99,0.00:64.86,0.00:8.13,0.00:1.00,0.00:1.00,0.00:0.98,0.00:37,44:236.3,105.3:0,0:0,0:55,69:92,80:16,22:chr2 g.92324403T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324411 . T G 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:73:66:0:0:1,16,56:10,542,1762:-0.21,45.29,0.00:-0.16,44.54,0.00:-0.05,0.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.87,0.00:7,37,44:104.0,243.6,132.5:0,0,0:0,0,0:103,58,69:46,88,77:0,16,21:chr2 g.92324410T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324412 . T G 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=74 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:74:67:0:0:19,55:578,1774:48.56,0.00:44.54,0.00:4.03,0.00:1.00,0.00:1.00,0.00:0.92,0.00:44,40:234.5,127.9:0,0:0,0:59,71:88,73:15,26:chr2 g.92324411T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324442 rs7421155 T C 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T,D:73:66:0:1:2,17,53,1:69,588,1695,21:4.09,50.07,0.00,0.47:4.22,41.65,0.00,0.54:-0.13,8.42,0.00,-0.07:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.99,0.00,0.00:40,37,44,21:188.5,216.9,126.0,194.0:1,0,0,0:0,0,0,0:77,78,103,88:73,72,43,63:23,25,24,0:chr2 g.92324441T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324449 rs4290232 C G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=1;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,G:70:63:0:0:63,7:2098,241:0.00,17.56:0.00,10.67:0.00,6.89:0.00,0.89:0.00,0.99:0.00,0.78:44,24:141.9,251.6:1,0:0,0:98,107:50,30:21,30:-,chr2 g.92324448C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324453 rs28767819 C G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,G:70:63:0:0:62,8:2079,284:0.00,21.42:0.00,18.99:0.00,2.43:0.00,0.94:0.00,1.00:0.00,0.85:44,37:141.2,244.1:0,0:0,0:102,90:45,60:20,17:-,chr2 g.92324452C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324463 rs4115650 T C 236 nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=146 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:C,T:65:57:0:0:63,2:2100,34:236.46,0.00:170.80,0.00:65.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,44:153.7,119.0:0,1:0,0:108,69:43,81:22,68:chr2 g.92324462T>C (intergenic),chr2 g.92324462T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92324464 rs143133073 C T 80 nt VT=SNV;PN=T;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I:67:59:1:0:41,25,1:1274,868,16:0.00,79.71,0.17:0.00,56.85,0.24:0.00,22.86,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:44,37,16:96.8,240.9,33.0:0,0,0:0,0,0:96,106,2:50,44,149:29,25,0:-,chr2 g.92324463C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324472 . T A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=78;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,T:78:66:0:0:6,72:203,2457:13.98,0.00:10.61,0.00:3.37,0.00:0.78,0.00:0.97,0.00:0.82,0.00:22,44:247.3,154.1:0,0:0,0:38,104:82,47:6,31:chr2 g.92324471T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324485 . T C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:76:59:0:0:6,70:209,2259:14.65,0.00:5.06,0.00:9.59,0.00:0.79,0.00:0.96,0.00:0.86,0.00:31,40:265.2,145.8:0,0:0,0:62,75:89,63:32,47:chr2 g.92324484T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324508 . A G 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=82 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,G:82:37:0:0:75,7:2352,248:0.00,17.76:0.00,0.29:0.00,17.47:0.00,0.87:0.00,0.89:0.00,0.96:40,31:121.6,262.1:0,0:0,0:51,54:100,97:30,29:-,chr2 g.92324507A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324532 rs4536085 T G 18 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:87:31:0:0:9,78:259,2559:17.72,0.00:0.27,0.00:17.46,0.00:0.96,0.00:0.90,0.00:0.99,0.00:31,40:247.2,104.4:0,0:0,0:66,47:80,103:33,25:chr2 g.92324531T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324559 rs138943270 T A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,C,T:88:28:0:0:9,2,77:309,46,2477:22.69,1.72,0.00:13.72,2.35,0.00:8.97,-0.62,0.00:0.96,0.00,0.00:0.88,0.00,0.00:1.00,0.00,0.00:30,18,40:245.7,108.0,111.0:0,0,0:0,0,0:49,72,67:93,78,84:31,3,26:chr2 g.92324558T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324561 . T A 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G,T:87:27:0:0:9,1,77:287,18,2530:20.56,0.11,0.00:1.19,0.39,0.00:19.36,-0.28,0.00:0.96,0.00,0.00:0.87,0.00,0.00:1.00,0.00,0.00:31,8,40:226.9,192.0,110.0:0,0,0:0,0,0:83,51,69:68,100,82:40,0,25:chr2 g.92324560T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324571 rs6594239 G C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,G,T:85:23:0:0:8,76,1:279,2373,9:20.26,0.00,-0.30:0.74,0.00,-0.00:19.52,0.00,-0.30:0.93,0.00,0.00:0.80,0.00,0.00:0.99,0.00,0.00:40,40,8:145.8,117.9,192.0:0,0,0:0,0,0:89,79,61:61,72,90:21,26,0:chr2 g.92324570G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324573 rs4323952 G T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:88:26:0:0:69,19:2317,611:0.00,50.24:0.00,8.61:0.00,41.64:0.00,1.00:0.00,0.99:0.00,1.00:40,40:130.8,103.4:0,0:0,0:84,75:67,76:26,19:-,chr2 g.92324572G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324588 rs4366369 T A 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=634 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,C,G,T:82:24:0:0:10,1,1,70:327,31,12,2253:24.43,1.30,-0.18,0.00:0.48,-0.10,0.08,0.00:23.95,1.40,-0.26,0.00:0.98,0.00,0.00,0.00:0.89,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,30,18,40:127.4,229.0,119.0,113.0:0,0,0,0:0,0,0,0:88,142,98,85:62,-11,52,63:20,0,0,19:chr2 g.92324587T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324590 rs77911455 G T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:G,T:81:23:0:0:74,7:2360,195:0.00,12.61:0.00,8.73:0.00,3.87:0.00,0.87:0.00,0.76:0.00,0.98:40,24:105.5,241.3:0,0:0,0:91,73:59,65:21,24:-,chr2 g.92324589G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324612 rs28798735 C A 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=2;NP=79 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:67:20:0:0:21,43,3:700,1360,93:62.43,0.00,5.84:12.63,0.00,-0.27:49.80,0.00,6.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,19:152.1,86.1,271.3:0,0,0:0,0,0:99,105,115:45,46,35:13,19,19:chr2 g.92324611C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324614 rs60300611 G A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:65:17:0:0:10,55:316,1768:24.26,0.00:8.02,0.00:16.24,0.00:0.99,0.00:0.88,0.00:1.00,0.00:24,40:252.6,91.1:0,0:0,0:96,107:42,44:15,15:chr2 g.92324613G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324657 rs74955136 C T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:7:0:0:22,9:593,296:0.00,25.80:0.00,-0.96:0.00,26.76:0.00,0.99:0.00,0.88:0.00,1.00:40,20:93.0,166.8:0,0:0,0:136,138:14,12:11,3:-,chr2 g.92324656C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324668 rs201196736 A G 11 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G:17:3:0:0:13,4:348,130:0.00,10.89:0.00,-0.29:0.00,11.18:0.00,0.74:0.00,0.59:0.00,0.96:40,20:112.2,160.2:0,0:0,0:121,147:28,3:23,1:-,chr2 g.92324667A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324676 rs6421817 A T 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,T:11:3:0:0:1,10:36,322:0.00,35.51:0.00,8.84:0.00,26.68:0.00,1.00:0.00,1.00:0.00,1.00:9,40:275.0,114.9:0,0:0,0:59,117:84,21:0,15:-,chr2 g.92324675A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324697 rs4258449 T C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,C,T:6:1:0:0:1,3,2:8,94,66:0.38,9.33,0.00:-0.04,-0.15,0.00:0.42,9.48,0.00:0.00,0.98,0.00:0.00,0.67,0.00:0.00,0.98,0.00:9,40,40:275.0,154.7,116.0:0,0,0:0,0,0:80,125,101:63,26,47:0,6,25:chr2 g.92324696T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324742 rs28889372 T G 6 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:G,T:5:2:0:0:2,3:70,99:6.49,0.00:1.57,0.00:4.93,0.00:0.46,0.00:0.70,0.00:0.87,0.00:45,40:189.0,97.3:0,0:0,0:87,22:21,128:38,1:chr2 g.92324741T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324840 rs4543865 T A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,T:7:6:0:0:3,4:87,131:8.05,0.00:8.42,0.00:-0.36,0.00:0.69,0.00:0.95,0.00:0.73,0.00:34,30:74.3,90.5:0,0:0,0:9,20:142,99:6,8:chr2 g.92324839T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324909 rs11491323 G C 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=125 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:C,G:32:24:0:0:4,28:114,847:8.13,0.00:5.42,0.00:2.71,0.00:0.63,0.00:0.47,0.00:0.67,0.00:40,36:130.2,100.8:0,0:0,0:45,52:104,98:4,17:chr2 g.92324908G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324930 rs147444153 G T 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:G,T:35:24:0:0:32,3:993,101:0.00,7.09:0.00,4.71:0.00,2.38:0.00,0.40:0.00,0.77:0.00,0.60:40,30:95.3,187.7:0,0:0,0:70,51:79,98:15,23:-,chr2 g.92324929G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324948 rs6594242 C T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,C,T:33:22:0:0:1,26,6:9,784,164:-0.14,0.00,12.58:-0.23,0.00,7.54:0.09,0.00,5.04:0.00,0.00,0.89:0.00,0.00,0.70:0.00,0.00,0.86:2,40,27:167.0,104.5,104.8:0,0,0:0,0,0:39,81,91:92,68,59:0,15,5:-,chr2 g.92324947C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92324950 rs111370946 C A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=65 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,C,G:35:24:0:0:5,29,1:150,869,32:11.26,0.00,1.77:8.93,0.00,1.91:2.33,0.00,-0.13:0.98,0.00,0.00:0.93,0.00,0.00:0.77,0.00,0.00:40,34,4:146.0,90.1,268.0:0,0,0:0,0,0:74,83,96:68,67,55:19,17,0:chr2 g.92324949C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324979 rs6720767 T A 28 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:43:31:0:0:12,2,29:332,66,902:28.15,4.29,0.00:26.59,4.52,0.00:1.57,-0.22,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.96,0.00,0.00:40,7,34:145.2,165.5,79.6:0,0,0:0,0,0:107,136,96:38,14,52:15,11,38:chr2 g.92324978T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92324980 rs56948839 C T 8 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1;NP=213 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T:43:31:0:0:39,4:1269,116:0.00,7.75:0.00,5.47:0.00,2.28:0.00,0.58:0.00,0.87:0.00,0.61:40,14:92.4,194.0:0,0:0,0:104,85:46,49:26,27:-,chr2 g.92324979C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325018 rs61304567 G C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G:45:39:0:0:5,40:165,1324:12.07,0.00:9.50,0.00:2.57,0.00:0.74,0.00:0.96,0.00:0.48,0.00:40,40:114.6,86.8:0,0:0,0:36,55:112,92:18,35:chr2 g.92325017G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325030 rs4088998 A T 192 nt VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=36 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G,T:66:56:0:0:6,4,56:164,112,1744:0.00,8.19,192.18:0.00,2.77,172.83:0.00,5.42,19.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:16,36,40:181.2,122.2,92.2:1,0,0:0,0,0:9,31,30:112,108,119:2,21,26:-,chr2 g.92325029A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325059 rs200255792 A G 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=85 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,G:126:110:0:0:113,13:3642,422:0.00,30.27:0.00,17.29:0.00,12.99:0.00,1.00:0.00,1.00:0.00,0.99:42,40:92.1,196.4:0,0:0,0:24,34:122,107:13,4:-,chr2 g.92325058A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325060 rs2210343 A T 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=147 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:127:112:0:0:96,31:3097,1003:0.00,84.45:0.00,60.23:0.00,24.22:0.00,1.00:0.00,1.00:0.00,1.00:42,42:111.3,78.8:0,0:0,0:27,29:120,114:12,18:-,chr2 g.92325059A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325102 rs55712013 G C 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,G:167:144:0:0:14,153:491,4966:34.90,0.00:26.97,0.00:7.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:255.1,82.1:0,0:0,0:59,50:92,98:4,20:chr2 g.92325101G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325111 rs71242354 T A 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=172;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:172:142:0:0:23,149:769,4780:58.51,0.00:35.21,0.00:23.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:242.9,69.1:0,0:0,0:69,59:80,88:12,22:chr2 g.92325110T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325126 rs4272684 C A 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=185;DB;DBA=NA;PAF=NA;NP=302 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:185:150:0:0:22,162,1:701,5470,34:51.45,0.00,1.23:31.95,0.00,0.59:19.50,0.00,0.64:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,49,23:140.2,89.9,34.0:0,0,0:0,0,0:68,71,54:82,77,97:14,26,0:chr2 g.92325125C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325150 rs149701737 G A 70 nt VT=SNV;PN=A;NN=C;SST=Single;DP=198;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:198:152:0:0:28,169,1:915,5815,29:69.90,0.00,0.74:33.87,0.00,-0.19:36.03,0.00,0.94:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,52,6:235.9,69.4,126.0:1,0,0:0,0,0:105,84,81:44,66,69:9,29,0:chr2 g.92325149G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325178 rs139006312 A C 49 nt VT=SNV;PN=C;NN=C;SST=Single;DP=194;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:194:122:0:0:173,21:5573,674:0.00,48.56:0.00,19.33:0.00,29.23:0.00,1.00:0.00,1.00:0.00,1.00:51,40:72.7,258.3:1,0:0,0:93,126:57,22:30,12:-,chr2 g.92325177A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325191 rs57822378 G T 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:C,G,T:174:97:0:0:1,155,18:36,5284,568:1.46,0.00,40.37:-0.15,0.00,16.32:1.61,0.00,24.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:22,51,40:176.0,72.7,228.1:0,0,0:0,0,0:33,100,118:118,51,27:0,27,27:-,chr2 g.92325190G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325193 rs4290119 C T 92 nt VT=SNV;PN=T;NN=C;SST=Single;DP=173;DB;DBA=NA;PAF=NA;NP=157 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:173:96:0:0:1,137,35:34,4452,1125:1.31,0.00,91.50:0.69,0.00,27.42:0.61,0.00,64.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,51,44:102.0,86.1,105.1:0,0,0:0,0,0:113,103,86:36,46,64:0,31,38:-,chr2 g.92325192C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325205 rs6739144 G A 69 nt VT=SNV;PN=A;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:147:71:0:0:28,1,118:870,26,4032:69.40,0.61,0.00:21.33,-0.12,0.00:48.08,0.73,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,39,51:110.9,135.0,80.6:0,0,0:0,0,0:97,86,97:53,65,51:29,0,27:chr2 g.92325204G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325258 rs4532889 C T 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,G,T:99:31:0:0:87,1,11:2827,32,355:0.00,1.31,25.81:0.00,-0.08,3.34:0.00,1.38,22.47:0.00,0.00,0.99:0.00,0.00,0.92:0.00,0.00,1.00:53,12,40:105.1,101.0,214.5:0,0,0:0,0,0:114,141,113:33,7,31:20,0,15:-,chr2 g.92325257C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325264 rs56158838 A T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,C,G,T:93:25:0:0:83,2,1,7:2539,67,33,228:0.00,3.54,1.43,15.47:0.00,2.18,-0.06,3.69:0.00,1.36,1.49,11.78:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.73:0.00,0.00,0.00,0.99:53,40,40,40:110.2,134.5,203.0,249.3:0,0,0,0:0,0,0,0:119,130,143,116:30,20,7,27:15,4,0,5:-,chr2 g.92325263A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325267 rs4085653 A G 79 nt VT=SNV;PN=T;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:88:20:0:0:59,2,27:1820,68,895:0.00,3.89,79.14:0.00,1.13,9.44:0.00,2.75,69.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:53,50,52:131.7,66.5,102.1:0,0,0:0,0,0:118,140,118:31,10,27:18,5,18:-,chr2 g.92325266A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325268 rs7371159 C T 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:88:20:0:0:2,67,19:68,1975,610:3.81,0.00,50.37:1.13,0.00,7.55:2.68,0.00,42.82:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:43,52,53:96.0,120.1,125.8:0,0,0:0,0,0:111,121,124:29,27,26:37,17,14:-,chr2 g.92325267C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325274 rs7425659 A T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,T:82:17:0:0:71,11:2160,354:0.00,26.63:0.00,9.99:0.00,16.64:0.00,0.99:0.00,0.84:0.00,1.00:53,40:129.4,107.5:0,0:0,0:121,120:26,31:15,21:-,chr2 g.92325273A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325281 rs147902460 A G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,C,G:72:13:0:0:65,1,6:2024,14,206:0.00,-0.10,14.54:0.00,-0.05,1.08:0.00,-0.04,13.46:0.00,0.00,0.79:0.00,0.00,0.58:0.00,0.00,0.98:53,40,40:120.0,178.0,245.7:0,0,0:0,0,0:123,114,130:25,37,15:18,0,5:-,chr2 g.92325280A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325298 rs56207889 G A 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:A,G,T:51:2:0:0:4,45,2:123,1519,62:8.20,0.00,3.57:-0.07,0.00,-0.03:8.27,0.00,3.60:0.54,0.00,0.00:0.29,0.00,0.00:0.93,0.00,0.00:40,40,40:276.5,121.6,212.5:0,0,0:0,0,0:141,117,111:8,27,33:6,26,36:chr2 g.92325297G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325302 rs59985022 C G 99 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:2:0:0:17,29:524,986:0.00,99.31:0.00,3.24:0.00,96.07:0.00,1.00:0.00,0.89:0.00,1.00:40,40:112.9,154.2:0,0:0,0:128,116:23,30:20,26:-,chr2 g.92325301C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325370 rs6594244 C G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=66 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:165:18.88:0.00:18.88:1.00:0.00:1.00:40:186.2:0:0:138:12:4:chr2 g.92325369C>G (intergenic),chr2 g.92325369C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92325431 rs6421823 C G 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,G:6:1:0:0:1,5:10,130:0.00,14.26:0.00,3.70:0.00,10.56:0.00,0.99:0.00,0.89:0.00,1.00:40,25:72.0,113.2:0,0:0,0:70,5:58,146:0,5:chr2 g.92325430C>G (intergenic),chr2 g.92325430C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92325482 rs145686854 C T 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:4:0:0:8,7:216,204:0.00,19.23:0.00,2.94:0.00,16.29:0.00,0.99:0.00,0.92:0.00,1.00:40,40:76.6,211.4:0,0:0,0:51,26:99,114:18,19:-,chr2 g.92325481C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325497 rs141343965 T G 23 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:4:0:0:8,12:251,297:23.12,0.00:-0.87,0.00:23.99,0.00:0.99,0.00:0.87,0.00:1.00,0.00:34,40:230.2,113.2:5,0:0,0:14,66:129,82:6,19:chr2 g.92325496T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325523 rs111721540 T A 29 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:4:0:0:9,11:308,351:29.13,0.00:-1.04,0.00:30.17,0.00:1.00,0.00:0.91,0.00:1.00,0.00:34,40:226.6,116.9:0,0:0,0:39,92:104,58:4,15:chr2 g.92325522T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325534 rs142310395 T A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,T:20:4:0:0:6,14:186,449:16.16,0.00:-0.62,0.00:16.78,0.00:0.94,0.00:0.76,0.00:0.99,0.00:34,40:206.0,149.2:0,0:0,0:50,92:93,51:3,16:chr2 g.92325533T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325537 . C G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,G:20:4:0:0:17,3:579,94:0.00,7.16:0.00,-0.28:0.00,7.45:0.00,0.50:0.00,0.49:0.00,0.86:40,32:148.4,267.7:0,0:0,0:81,54:69,90:25,8:-,chr2 g.92325536C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325538 . A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:20:4:0:0:17,3:572,103:0.00,8.06:0.00,-0.28:0.00,8.34:0.00,0.50:0.00,0.49:0.00,0.86:40,32:148.4,267.7:0,0:0,0:82,55:68,89:25,8:-,chr2 g.92325537A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325547 rs139493132 G A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:A,G:20:4:0:0:6,14:196,431:17.17,0.00:-0.62,0.00:17.79,0.00:0.94,0.00:0.76,0.00:0.99,0.00:34,40:206.0,149.2:0,0:0,0:63,105:80,38:3,16:chr2 g.92325546G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325577 rs56075133 T A 32 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:18:4:0:0:10,8:331,260:32.49,0.00:-1.41,0.00:33.90,0.00:1.00,0.00:0.96,0.00:1.00,0.00:34,40:231.0,83.0:0,0:0,0:93,129:50,21:5,17:chr2 g.92325576T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 92325608 . G T 26 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,G,T:14:4:0:0:1,5,8:10,144,259:0.29,0.00,25.93:-0.13,0.00,-1.47:0.42,0.00,27.40:0.00,0.00,1.00:0.00,0.00,0.97:0.00,0.00,1.00:24,18,34:139.0,115.8,222.0:0,0,0:0,0,0:22,44,124:128,105,19:0,39,3:-,chr2 g.92325607G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92325627 rs150529030 G C 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:131:15.46:5.83:9.63:1.00:1.00:1.00:36:142.4:0:0:26:125:15:chr2 g.92325626G>C (intergenic),chr2 g.92325626G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92325674 rs139562562 T G 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:2:0:0:6:188:21.62:8.15:13.46:1.00:1.00:1.00:36:164.3:0:0:72:78:20:chr2 g.92325673T>G (intergenic),chr2 g.92325673T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92325772 rs57943461 T A,G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=53 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:12:A,G,T:8:6:0:0:2,5,1:42,170,33:3.83,17.94,0.00:1.51,10.69,0.00:2.31,7.25,0.00:0.00,0.97,0.00:0.00,1.00,0.00:0.00,0.99,0.00:40,40,27:117.5,99.0,67.0:0,0,0:0,0,0:29,63,86:99,86,65:16,26,0:chr2 g.92325771T>A (intergenic),chr2 g.92325771T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 92325830 rs141256239 C G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,G:9:7:0:0:5,4:163,123:0.00,11.52:0.00,4.39:0.00,7.13:0.00,0.85:0.00,0.97:0.00,0.96:40,40:55.2,102.5:0,0:0,0:97,87:53,41:42,29:-,chr2 g.92325829C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 92326081 rs62648025 T C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:168:19.18:0.00:19.18:1.00:0.00:1.00:27:127.6:0:0:104:41:3:chr2 g.92326080T>C (intergenic),chr2 g.92326080T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 95388813 rs182383100 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9834,T/0.01657;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,T:7:4:0:0:4,3:110,93:0.00,8.66:0.00,3.24:0.00,5.42:0.00,0.69:0.00,0.89:0.00,0.95:60,60:17.2,47.0:0,0:0,0:34,86:96,65:22,21:-,chr2 g.95388812C>T (intergenic):-,0.02:-,NOT_FOUND 2 95388920 rs72817624 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9647,T/0.03534;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T:5:1:0:0:2,3:71,96:0.00,9.57:0.00,1.68:0.00,7.89:0.00,0.78:0.00,0.73:0.00,0.78:52,60:0.0,51.0:0,0:0,0:91,107:37,10:51,6:-,chr2 g.95388919C>T (intergenic):-,0.05:-,NOT_FOUND 2 95488485 rs75011340 G T 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=55;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:G,T:13:13:0:0:10,3:314,89:0.00,7.28:0.00,7.28:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,42:0.0,180.3:0,0:0,0:6,53:145,96:1,7:-,NR_003366.2(ANKRD20A8P) n.969+264C>A:-,NOT_FOUND:-,NOT_FOUND 2 95488525 rs200074054 C T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=24;PC=0.003;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:14:14:0:0:11,3:368,94:0.00,7.67:0.00,7.67:0.00,0.00:0.00,0.56:0.00,0.56:0.00,0.00:50,42:1.1,180.3:0,0:0,0:45,93:106,56:2,7:-,NR_003366.2(ANKRD20A8P) n.969+224G>A:-,NOT_FOUND:-,NOT_FOUND 2 95488545 rs199875216 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.076;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:18:18:0:0:14,4:440,139:0.00,11.67:0.00,11.73:0.00,-0.05:0.00,0.73:0.00,0.73:0.00,0.48:51,42:7.9,194.2:0,0:0,0:64,97:87,52:11,19:-,NR_003366.2(ANKRD20A8P) n.969+204G>A:-,NOT_FOUND:-,NOT_FOUND 2 95488556 rs200529245 A G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=7;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:20:20:0:0:16,4:510,118:0.00,9.37:0.00,9.42:0.00,-0.05:0.00,0.71:0.00,0.71:0.00,0.47:58,42:8.8,194.2:0,0:0,0:65,108:85,41:16,19:-,NR_003366.2(ANKRD20A8P) n.969+193T>C:-,NOT_FOUND:-,NOT_FOUND 2 95488739 rs78834165 G T 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:G,T:96:74:0:0:85,11:2816,342:0.00,24.62:0.00,19.72:0.00,4.90:0.00,0.99:0.00,1.00:0.00,0.99:60,40:9.6,197.3:0,0:0,0:56,16:91,133:32,7:-,NR_003366.2(ANKRD20A8P) n.969+10C>A:-,NOT_FOUND:-,NOT_FOUND 2 95488777 rs370463375 T C 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=2;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:134:101:0:0:22,112:740,3627:58.53,0.00:38.89,0.00:19.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:193.0,10.2:0,0:0,0:39,55:101,81:10,30:NR_003366.2(ANKRD20A8P) n.941A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 95488778 . G A 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=137;PC=0.001;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:137:104:0:0:22,115:713,3823:55.63,0.00:38.78,0.00:16.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:189.1,10.2:0,0:0,0:44,63:99,75:11,32:NR_003366.2(ANKRD20A8P) n.940C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 95488783 rs200165040 T C 54 nt VT=SNV;PN=T;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=79;PC=0.213;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:136:101:0:0:22,114:701,3613:54.50,0.00:33.51,0.00:20.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:188.8,9.5:0,0:0,0:45,59:95,78:9,32:NR_003366.2(ANKRD20A8P) n.935A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 95488787 rs78339506 G T 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=1;NP=16;PC=0.182;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:136:96:0:0:114,22:3743,720:0.00,56.38:0.00,34.61:0.00,21.77:0.00,1.00:0.00,1.00:0.00,1.00:60,41:9.3,192.9:0,0:0,0:63,47:74,93:31,8:-,NR_003366.2(ANKRD20A8P) n.931C>A:-,NOT_FOUND:-,NOT_FOUND 2 95488861 rs112733615 C G 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=1288;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:88:46:0:0:70,18:2286,628:0.00,52.04:0.00,17.54:0.00,34.49:0.00,1.00:0.00,1.00:0.00,1.00:51,50:5.9,182.2:0,0:0,0:98,115:49,32:23,15:-,NR_003366.2(ANKRD20A8P) n.899-42G>C:-,NOT_FOUND:-,NOT_FOUND 2 95488884 rs369961739 A T 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=4;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:76:26:0:0:58,18:1895,577:0.00,48.22:0.00,8.61:0.00,39.61:0.00,1.00:0.00,1.00:0.00,1.00:48,50:5.5,172.2:0,0:0,0:112,136:39,14:27,10:-,NR_003366.2(ANKRD20A8P) n.899-65T>A:-,NOT_FOUND:-,NOT_FOUND 2 95488899 rs200093992 G A 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:10:0:0:12,52:361,1660:28.44,0.00:-0.67,0.00:29.11,0.00:1.00,0.00:0.82,0.00:1.00,0.00:50,40:146.3,6.3:0,0:0,0:116,96:30,54:16,38:NR_003366.2(ANKRD20A8P) n.899-80C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 95488912 rs200358805 CTTTGTAT C 19 nt VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:CTTTGTAT,C:59:6:0:9:50,9:1572,261:0.00,19.48:0.00,-0.36:0.00,19.83:0.00,0.98:0.00,0.60:0.00,1.00:40,50:10.8,136.6:0,0:0,0:105,129:45,19:39,10:-,NR_003366.2(ANKRD20A8P) n.899-100_899-94delATACAAA:-,NOT_FOUND:-,NOT_FOUND 2 95488938 rs201145481 C A 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.023;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,C:42:1:0:0:5,37:157,1108:11.44,0.00:-0.06,0.00:11.49,0.00:0.76,0.00:0.41,0.00:0.98,0.00:40,40:151.0,7.6:0,0:0,0:121,72:30,77:12,28:NR_003366.2(ANKRD20A8P) n.899-119G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 95498059 rs28578500 C T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.052;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:12:0:0:0:9,3:254,98:0.00,8.31:0.00,0.00:0.00,8.31:0.00,0.59:0.00,0.00:0.00,0.59:60,27:21.9,48.7:0,0:0,0:89,124:55,25:35,2:-,NR_003366.2(ANKRD20A8P) n.715-226G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513486 rs2940894 C T 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=4;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:19:19:0:0:14,5:419,122:0.00,9.83:0.00,9.83:0.00,0.00:0.00,0.86:0.00,0.86:0.00,0.00:60,34:38.1,111.0:0,0:0,0:57,62:92,88:23,9:-,NR_003366.2(ANKRD20A8P) n.643+276G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513528 rs140257160 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=125;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,C,T:28:28:0:0:1,3,24:10,98,577:-0.09,7.16,0.00:-0.09,7.16,0.00:0.00,0.00,0.00:0.00,0.44,0.00:0.00,0.44,0.00:0.00,0.00,0.00:50,40,60:103.0,136.3,36.4:0,0,0:0,0,0:100,42,58:51,108,92:0,4,45:NR_003366.2(ANKRD20A8P) n.643+234A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 95513731 rs199837605 C T 101 nt VT=SNV;PN=G;NN=A;SST=Single;DP=248;DB;DBA=NA;PAF=NA;NP=741;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:248:220:0:0:206,42:6896,1298:0.00,100.92:0.00,87.45:0.00,13.46:0.00,1.00:0.00,1.00:0.00,1.00:60,40:12.2,184.2:0,0:0,0:44,33:103,116:26,13:-,NR_003366.2(ANKRD20A8P) n.643+31G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513741 rs374925913 C A 103 nt VT=SNV;PN=G;NN=C;SST=Single;DP=271;DB;DBA=NA;PAF=NA;NP=1217;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:271:234:0:0:42,229:1335,7481:102.92,0.00:87.68,0.00:15.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:186.8,12.9:0,0:0,0:43,46:106,100:13,28:NR_003366.2(ANKRD20A8P) n.643+21G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 95513742 rs369381393 C T 106 nt VT=SNV;PN=C;NN=T;SST=Single;DP=274;DB;DBA=NA;PAF=NA;NP=1;NP=1186;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:274:237:0:0:1,230,43:14,7381,1371:-0.29,0.00,106.05:-0.18,0.00,90.85:-0.11,0.00,15.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:9,60,40:48.0,12.0,186.9:0,0,0:0,0,0:52,45,45:99,101,104:0,28,13:-,NR_003366.2(ANKRD20A8P) n.643+20G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513809 rs146283440 C T 148 nt VT=SNV;PN=A;NN=A;SST=Single;DP=346;DB;DBA=NA;PAF=NA;NP=2508;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:346:269:0:0:287,1,58:9522,11,1882:0.00,-0.33,148.14:0.00,-0.17,112.07:0.00,-0.16,36.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,52,42:13.7,64.0,205.4:0,0,0:0,0,0:77,17,99:68,133,43:31,0,24:-,NR_003366.2(ANKRD20A8P) n.596G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513817 rs75978644 G T 161 nt VT=SNV;PN=T;NN=A;SST=Single;DP=350;DB;DBA=NA;PAF=NA;NP=2525;PC=0.014;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:350:268:0:0:286,64:9560,2025:0.00,160.84:0.00,120.60:0.00,40.25:0.00,1.00:0.00,1.00:0.00,1.00:60,52:12.6,200.8:0,0:0,0:83,105:62,41:29,26:-,NR_003366.2(ANKRD20A8P) n.588C>A:-,NOT_FOUND:-,NOT_FOUND 2 95513826 rs10874461 C T 124 nt VT=SNV;PN=A;NN=A;SST=Single;DP=350;DB;DBA=NA;PAF=NA;NP=2043;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:350:264:0:0:301,49:9894,1617:0.00,123.60:0.00,68.57:0.00,55.03:0.00,1.00:0.00,1.00:0.00,1.00:60,50:49.4,53.2:0,0:0,0:77,111:70,23:36,17:-,NR_003366.2(ANKRD20A8P) n.579G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513852 rs6707709 C T 186 nt VT=SNV;PN=A;NN=T;SST=Single;DP=324;DB;DBA=NA;PAF=NA;NP=163;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:324:214:0:0:254,70:8415,2264:0.00,186.43:0.00,95.40:0.00,91.02:0.00,1.00:0.00,1.00:0.00,1.00:60,42:7.8,189.7:0,0:0,0:76,92:73,58:39,35:-,NR_003366.2(ANKRD20A8P) n.553G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513854 . G C 116 nt VT=SNV;PN=T;NN=A;SST=Single;DP=327;NP=4;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:327:216:0:0:1,46,278,2:8,1512,9356,37:-0.34,115.78,0.00,0.26:-0.18,63.06,0.00,-0.28:-0.17,52.73,0.00,0.54:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:52,40,60,60:99.0,244.8,12.5,55.0:0,0,0,0:0,0,0,0:64,75,83,82:85,76,65,66:0,36,38,68:NR_003366.2(ANKRD20A8P) n.551C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 95513877 rs75617483 A G 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=314;DB;DBA=NA;PAF=NA;NP=57;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:314:179:0:0:268,46:8559,1484:0.00,113.71:0.00,34.93:0.00,78.78:0.00,1.00:0.00,1.00:0.00,1.00:60,43:12.2,242.2:0,0:0,0:70,69:75,81:36,33:-,NR_003366.2(ANKRD20A8P) n.528T>C:-,NOT_FOUND:-,NOT_FOUND 2 95513880 rs113232879 C T 109 nt VT=SNV;PN=A;NN=A;SST=Single;DP=319;DB;DBA=NA;PAF=NA;NP=55;PC=0.177;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:319:181:0:0:2,270,47:22,9005,1440:-0.55,0.00,108.81:-0.28,0.00,34.20:-0.26,0.00,74.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,43:42.5,11.6,233.4:0,0,0:0,0,0:5,70,77:145,73,73:5,36,31:-,NR_003366.2(ANKRD20A8P) n.525G>A:-,NOT_FOUND:-,NOT_FOUND 2 95513889 rs148623499 T A 118 nt VT=SNV;PN=A;NN=G;SST=Single;DP=315;DB;DBA=NA;PAF=NA;NP=19;PC=0.997;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:315:165:0:0:44,271:1520,8761:117.71,0.00:31.11,0.00:86.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:237.1,11.0:0,0:0,0:67,69:83,74:29,36:NR_003366.2(ANKRD20A8P) n.516A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 95513893 rs80295192 A G 101 nt VT=SNV;PN=G;NN=G;SST=Single;DP=309;DB;DBA=NA;PAF=NA;NP=515;PC=0.002;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:309:156:0:0:264,1,44:8745,13,1343:0.00,-0.28,100.62:0.00,-0.05,28.69:0.00,-0.22,71.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,50,43:11.5,13.0,238.8:0,0,0:0,0,0:71,150,80:72,1,69:35,0,32:-,NR_003366.2(ANKRD20A8P) n.512T>C:-,NOT_FOUND:-,NOT_FOUND 2 95513964 rs112377302 T C 94 nt VT=SNV;PN=T;NN=G;SST=Single;DP=221;DB;DBA=NA;PAF=NA;NP=658;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:221:69:0:0:41,180:1203,5888:93.89,0.00:5.84,0.00:88.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:201.3,12.6:0,0:0,0:93,96:57,49:30,27:NR_003366.2(ANKRD20A8P) n.506-65A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 95513989 rs111499700 C T 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=180;DB;DBA=NA;PAF=NA;NP=1;NP=161;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:180:40:0:0:1,142,37:11,4101,1216:-0.29,0.00,99.74:-0.06,0.00,4.44:-0.23,0.00,95.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,52,43:135.0,12.5,193.5:0,0,0:0,0,0:95,114,108:56,36,34:0,22,30:-,NR_003366.2(ANKRD20A8P) n.506-90G>A:-,NOT_FOUND:-,NOT_FOUND 2 95514005 rs138341563 T C 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=575;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:145:20:0:0:30,115:792,3716:61.54,0.00:3.73,0.00:57.81,0.00:1.00,0.00:0.97,0.00:1.00,0.00:43,43:181.2,14.3:0,0:0,0:94,112:57,39:34,20:NR_003366.2(ANKRD20A8P) n.506-106A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 95514020 rs201744287 C T 60 nt VT=SNV;PN=G;NN=A;SST=Single;DP=123;DB;DBA=NA;PAF=NA;NP=13;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:123:9:0:0:99,24:3206,745:0.00,59.63:0.00,1.11:0.00,58.52:0.00,1.00:0.00,0.81:0.00,1.00:43,41:12.6,173.0:0,0:0,0:118,98:32,52:23,23:-,NR_003366.2(ANKRD20A8P) n.506-121G>A:-,NOT_FOUND:-,NOT_FOUND 2 95514033 rs112781680 G T 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=36;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:99:2:0:0:80,19:2455,614:0.00,49.47:0.00,1.58:0.00,47.89:0.00,1.00:0.00,0.46:0.00,1.00:43,41:14.2,157.3:0,0:0,0:112,95:38,56:26,16:-,NR_003366.2(ANKRD20A8P) n.506-134C>A:-,NOT_FOUND:-,NOT_FOUND 2 95518657 rs55971499 GA G 7 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.009;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:GA,G:4:6:0:5:1,3:36,124:0.00,7.11:0.00,7.11:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,71.3:0,2:0,0:101,77:50,71:0,19:-,NR_003366.2(ANKRD20A8P) n.398+289delT:-,NOT_FOUND:-,NOT_FOUND 2 95522600 . G T 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=175;PC=0.001;Gene=ANKRD20A8P/NR_003366.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:175:172:0:0:1,1,155,18:11,12,4542,606:-0.32,-0.30,0.00,44.13:-0.31,-0.29,0.00,43.47:-0.02,-0.02,0.00,0.66:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.60:40,43,56,52:75.0,84.0,9.0,251.9:0,0,0,0:0,0,0,0:104,31,46,24:15,120,103,126:0,0,35,3:-,NR_003366.2(ANKRD20A8P) n.109+112C>A:-,NOT_FOUND:-,NOT_FOUND 2 95523225 rs372991182 A C 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,C,T:78:33:0:0:70,7,1:2202,190,11:0.00,12.24,-0.24:0.00,0.43,0.06:0.00,11.81,-0.30:0.00,0.88,0.00:0.00,0.88,0.00:0.00,0.99,0.00:60,60,60:10.6,221.7,11.0:0,0,0:0,0,0:107,140,133:42,11,18:22,8,0:-,NR_003366.2(ANKRD20A8P) n.-405T>G:-,NOT_FOUND:-,NOT_FOUND 2 95537823 . G . . NT END=95538561;NT GT ./. 2 95537871 rs377160464 GC G 22 idl,rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=GC/0.8938,G/0.1062;NP=19;PC=0.043;Gene=LOC442028/NR_037597.1/0;VC=NonCoding;Gene=TEKT4/NM_001286559.1/0;CC=c.-752+60delC;VC=Intron;Gene=TEKT4/NM_144705.3/1;CC=c.498+60delC;VC=Intron;DM=TEKT4/Tektin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GC,I,G:66:27:9:9:48,9,9:1473,258,284:0.00,19.27,21.87:0.00,3.29,2.03:0.00,15.98,19.84:0.00,0.00,0.97:0.00,0.00,0.94:0.00,0.00,1.00:60,60,60:12.5,61.8,15.1:0,0,0:0,0,0:110,120,74:34,31,75:28,9,28:-,NM_144705.2(TEKT4) c.498+50delC:-,NOT_FOUND:-,NOT_FOUND 2 95539257 . T . . NT END=95539264;NT GT ./. 2 95539336 . G . . NT END=95539709;NT GT ./. 2 95539854 . G . . NT END=95540520;NT GT ./. 2 95540744 . G . . NT END=95541305;NT GT ./. 2 95541488 . G . . NT END=95542297;NT GT ./. 2 95542515 . G . . NT END=95691537;NT GT ./. 2 95691631 . G . . NT END=95713703;NT GT ./. 2 95713872 . G . . NT END=95715325;NT GT ./. 2 95715452 . G . . NT END=95719125;NT GT ./. 2 95719201 . A . . NT END=95753101;NT GT ./. 2 95753327 . C . . NT END=95756130;NT GT ./. 2 95756268 . C . . NT END=95766218;NT GT ./. 2 95766282 . C . . NT END=95766581;NT GT ./. 2 95766553 rs373760483 TA T 9 rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=56;Gene=MRPS5/NM_031902.3/1;CC=c.868+28delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,G,TA,I,T:39:35:1:4:1,1,32,1,4:26,29,960,31,130:1.14,1.43,0.00,1.63,9.46:0.51,1.56,0.00,-0.24,7.23:0.63,-0.13,0.00,1.87,2.22:0.00,0.00,0.00,0.00,0.59:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.83:60,60,60,60,60:26.0,29.0,19.1,35.0,3.0:0,0,0,0,0:0,0,0,0,0:1,5,36,54,49:149,146,110,97,90:0,0,23,0,28:-,NM_031902.3(MRPS5) c.868+28delT:-,NOT_FOUND:-,NOT_FOUND 2 95766640 . C . . NT END=95767421;NT GT ./. 2 95767469 . C . . NT END=95770384;NT GT ./. 2 95770476 . C . . NT END=95772167;NT GT ./. 2 95772203 . C . . NT END=95773919;NT GT ./. 2 95774154 . C . . NT END=95775660;NT GT ./. 2 95775787 . C . . NT END=95780810;NT GT ./. 2 95780949 . C . . NT END=95783609;NT GT ./. 2 95783691 . C . . NT END=95787478;NT GT ./. 2 95783701 . G GA 10 rn VT=INS;SST=Single;DP=36;NP=7;PC=0.001;Gene=MRPS5/NM_031902.3/1;CC=c.59-12dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,GA,D:36:21:4:2:30,4,2:943,132,58:0.00,9.76,3.51:0.00,10.73,-0.28:0.00,-0.97,3.78:0.00,0.61,0.00:0.00,0.83,0.00:0.00,0.44,0.00:60,60,60:4.8,0.0,50.5:0,0,0:0,0,0:94,83,125:50,66,22:30,17,0:-,NM_031902.3(MRPS5) c.59-12_59-11insT:-,NOT_FOUND:-,NOT_FOUND 2 95787537 . G . . NT END=95815026;NT GT ./. 2 95787810 rs3112227 T G 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:2:0:0:8:250:28.65:2.70:25.95:1.00:1.00:1.00:60:52.6:0:0:113:31:9:NM_031902.3(MRPS5) c.-218-u56A>C,NM_031902.3(MRPS5) c.-218-u56A>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 95816013 . C . . NT END=95818418;NT GT ./. 2 95816017 rs55921067 T TA 79 idl,rn VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=3;NP=30;NP=4;Gene=ZNF514/NM_032788.1/1;CC=c.218-6_218-5insT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA,D:77:34:39:6:1,40,30,6:27,1097,1120,188:1.07,0.00,79.11,13.49:-0.04,0.00,28.16,2.41:1.12,0.00,50.96,11.09:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:100.0,19.6,40.5,9.7:1,1,9,0:0,0,0,0:69,128,73,52:81,13,74,98:0,18,21,9:-,NM_032788.1(ZNF514) c.218-6_218-5insT:-,NOT_FOUND:-,NOT_FOUND 2 95818151 rs3112997 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2039,A/0.7961;Gene=ZNF514/NM_032788.1/1;CC=c.217+268C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:56.2:0:0:57:93:19:NM_032788.1(ZNF514) c.217+268C>T,NM_032788.1(ZNF514) c.217+268C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 2 95818515 . C . . NT END=95818877;NT GT ./. 2 95819005 . C . . NT END=95823095;NT GT ./. 2 95823185 . C . . NT END=95824604;NT GT ./. 2 95824729 . A . . NT END=95841971;NT GT ./. 2 95842005 . G . . NT END=95843227;NT GT ./. 2 95843080 rs397985240 TC T 106 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=TC/0.5146,T/0.4854;DB;DBA=NA;PAF=TC/0.5146,T/0.4854;NP=1929;PC=0.001;Gene=ZNF2/NM_001017396.2/0;CC=c.-93-145delC;VC=Intron;Gene=ZNF2/NM_001282398.1/0;CC=c.34-145delC;VC=Intron;Gene=ZNF2/NM_001291604.1/0;CC=c.-93-145delC;VC=Intron;Gene=ZNF2/NM_001291605.1/0;CC=c.34-145delC;VC=Intron;Gene=ZNF2/NM_021088.3/1;CC=c.34-145delC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:29:0:29:29:918:105.63:105.63:0.00:1.00:1.00:0.00:70:4.5:0:0:47:103:31:NM_021088.2(ZNF2) c.34-147delC,NM_021088.2(ZNF2) c.34-147delC:0.47,0.47:NOT_FOUND,NOT_FOUND 2 95843355 . G . . NT END=95845903;NT GT ./. 2 95846018 . G . . NT END=95846847;NT GT ./. 2 95846158 rs3112230 T C 49 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2059,C/0.7941;Gene=ZNF2/NM_001017396.2/0;CC=c.148+141T>C;VC=Intron;Gene=ZNF2/NM_001282398.1/0;CC=c.161-690T>C;VC=Intron;Gene=ZNF2/NM_001291604.1/0;CC=c.35-690T>C;VC=Intron;Gene=ZNF2/NM_001291605.1/0;CC=c.274+141T>C;VC=Intron;Gene=ZNF2/NM_021088.3/1;CC=c.274+141T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:424:48.54:0.00:48.54:1.00:0.00:1.00:60:38.6:0:0:125:26:17:NM_021088.2(ZNF2) c.274+141T>C,NM_021088.2(ZNF2) c.274+141T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 95847040 rs397802135 TGCG T 524 PASS VT=DEL;SST=Single;DP=158;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3445;Gene=ZNF2/NM_001017396.2/0;CC=c.348_350delGCG;ProtCh=p.R118del;VC=InFrameDel;Gene=ZNF2/NM_001282398.1/0;CC=c.360_362delGCG;ProtCh=p.R122del;VC=InFrameDel;Gene=ZNF2/NM_001291604.1/0;CC=c.234_236delGCG;ProtCh=p.R80del;VC=InFrameDel;Gene=ZNF2/NM_001291605.1/0;CC=c.513_515delGCG;ProtCh=p.R173del;VC=InFrameDel;Gene=ZNF2/NM_021088.3/1;CC=c.474_476delGCG;ProtCh=p.R160del;VC=InFrameDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:TGCG,T:158:115:0:150:11,147:326,4711:0.00,523.88:0.00,309.85:0.00,214.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.6,4.7:0,0:0,0:145,63:5,86:4,28:NM_021088.2(ZNF2) c.=,NM_021088.2(ZNF2) c.=:NOT_FOUND,NOT_FOUND:0.991046,0.991046 2 95847852 . T . . NT END=95940333;NT GT ./. 2 95848018 rs3105105 T C 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.2131,C/0.7869;Gene=ZNF2/NM_001017396.2/0;CC=c.*164T>C;VC=3UTR;Gene=ZNF2/NM_001282398.1/0;CC=c.*164T>C;VC=3UTR;Gene=ZNF2/NM_001291604.1/0;CC=c.*164T>C;VC=3UTR;Gene=ZNF2/NM_001291605.1/0;CC=c.*164T>C;VC=3UTR;Gene=ZNF2/NM_021088.3/1;CC=c.*164T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:0:0:0:17:536:61.67:0.00:61.67:1.00:0.00:1.00:60:41.9:0:0:108:43:34:NM_021088.2(ZNF2) c.*164T>C,NM_021088.2(ZNF2) c.*164T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 95940578 . G . . NT END=95941208;NT GT ./. 2 95941259 . G . . NT END=95941616;NT GT ./. 2 95941881 . G . . NT END=95941974;NT GT ./. 2 95942096 . G . . NT END=95942341;NT GT ./. 2 95942406 . G . . NT END=95942719;NT GT ./. 2 95942416 rs377430505 C T 108 nt VT=SNV;PN=T;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=1;Gene=PROM2/NM_001165977.1/0;CC=c.682+11C>T;VC=Intron;Gene=PROM2/NM_001165978.1/0;CC=c.682+11C>T;VC=Intron;Gene=PROM2/NM_144707.2/1;CC=c.682+11C>T;VC=Intron;DM=PROM2/Prominin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:58:35:0:0:23,1,34:775,7,1085:0.00,-0.10,107.98:0.00,-0.08,30.07:0.00,-0.02,77.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.3,15.0,50.2:0,0,0:0,0,0:104,0,100:34,151,42:26,0,24:-,NM_001165978.1(PROM2) c.682+11C>T:-,NOT_FOUND:-,0.000077 2 95942810 . G . . NT END=95943111;NT GT ./. 2 95943315 . G . . NT END=95943677;NT GT ./. 2 95943753 . G . . NT END=95944468;NT GT ./. 2 95944533 . G . . NT END=95944732;NT GT ./. 2 95944893 . G . . NT END=95945592;NT GT ./. 2 95944902 rs61086044 A AC 217 nt VT=INS;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1838;NP=5;Gene=PROM2/NM_001165977.1/0;CC=c.1274+12dupC;VC=Intron;Gene=PROM2/NM_001165978.1/0;CC=c.1274+12dupC;VC=Intron;Gene=PROM2/NM_144707.2/1;CC=c.1274+12dupC;VC=Intron;DM=PROM2/Prominin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,C,AC:72:54:64:0:7,1,64:207,12,1965:0.00,0.16,217.04:0.00,-0.03,162.31:0.00,0.19,54.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.7,134.0,13.7:0,1,0:0,0,0:143,97,94:3,11,54:3,0,28:-,NM_001165978.1(PROM2) c.1274+10_1274+11insC:-,0.99:-,0.989229 2 95945568 rs7585914 G A 284 nt VT=SNV;PN=T;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.2139,A/0.7861;PC=0.188;Gene=PROM2/NM_001165977.1/0;CC=c.1275-25G>A;VC=Intron;Gene=PROM2/NM_001165978.1/0;CC=c.1275-25G>A;VC=Intron;Gene=PROM2/NM_144707.2/1;CC=c.1275-25G>A;VC=Intron;DM=PROM2/Prominin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:77:72:0:0:77:2475:284.12:203.78:80.33:1.00:1.00:1.00:60:41.4:0:0:58:83:33:NM_001165978.1(PROM2) c.1275-25G>A,NM_001165978.1(PROM2) c.1275-25G>A:0.78,0.78:0.785791,0.785791 2 95945746 . G . . NT END=95946989;NT GT ./. 2 95945830 rs7586229 G T 157 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.2135,T/0.7865;Gene=PROM2/NM_001165977.1/0;CC=c.1427+85G>T;VC=Intron;Gene=PROM2/NM_001165978.1/0;CC=c.1427+85G>T;VC=Intron;Gene=PROM2/NM_144707.2/1;CC=c.1427+85G>T;VC=Intron;DM=PROM2/Prominin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:T:42:7:0:0:42:1365:156.53:15.31:141.22:1.00:1.00:1.00:60:44.5:0:0:104:43:35:NM_001165978.1(PROM2) c.1427+85G>T,NM_001165978.1(PROM2) c.1427+85G>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 95947085 rs12992066 A G 429 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=A/0.2003,C/.,G/0.7997,T/.;PC=0.979;Gene=PROM2/NM_001165977.1/0;CC=c.1523A>G;ProtCh=p.Q508R;VC=Missense;Gene=PROM2/NM_001165978.1/0;CC=c.1523A>G;ProtCh=p.Q508R;VC=Missense;Gene=PROM2/NM_144707.2/1;CC=c.1523A>G;ProtCh=p.Q508R;VC=Missense;DM=PROM2/Prominin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:122:75:0:0:122:3712:428.98:179.02:249.96:1.00:1.00:1.00:60:36.7:0:0:82:63:25:NM_001165978.1(PROM2) c.1523A>G (p.Gln508Arg),NM_001165978.1(PROM2) c.1523A>G (p.Gln508Arg):0.79,0.79:0.797401,0.797401 2 95947114 . G . . NT END=95947672;NT GT ./. 2 95947195 . T G 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;Gene=PROM2/NM_001165977.1/0;CC=c.1551+82T>G;VC=Intron;Gene=PROM2/NM_001165978.1/0;CC=c.1551+82T>G;VC=Intron;Gene=PROM2/NM_144707.2/1;CC=c.1551+82T>G;VC=Intron;DM=PROM2/Prominin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:G,T:35:11:0:0:7,28:105,659:6.31,0.00:-0.97,0.00:7.28,0.00:0.95,0.00:0.87,0.00:0.99,0.00:60,60:63.0,48.1:0,0:0,0:27,121:123,16:8,21:NM_001165978.1(PROM2) c.1551+82T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 95947765 . G . . NT END=95947889;NT GT ./. 2 95947975 . G . . NT END=95950716;NT GT ./. 2 95950864 . G . . NT END=95951386;NT GT ./. 2 95951459 . G . . NT END=95952226;NT GT ./. 2 95951647 rs6739268 G A 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.008986,A/0.991;Gene=PROM2/NM_001165977.1/0;CC=c.1947+189G>A;VC=Intron;Gene=PROM2/NM_001165978.1/0;CC=c.1947+189G>A;VC=Intron;Gene=PROM2/NM_144707.2/1;CC=c.1947+189G>A;VC=Intron;DM=PROM2/Prominin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:0:0:0:15:467:53.79:0.00:53.79:1.00:0.00:1.00:60:36.6:0:0:91:58:39:NM_001165978.1(PROM2) c.1947+189G>A,NM_001165978.1(PROM2) c.1947+189G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 95952177 rs7602232 C G 132 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.008786,G/0.9912,T/.;Gene=PROM2/NM_001165977.1/0;CC=c.1948-50C>G;VC=Intron;Gene=PROM2/NM_001165978.1/0;CC=c.1948-50C>G;VC=Intron;Gene=PROM2/NM_144707.2/1;CC=c.1948-50C>G;VC=Intron;DM=PROM2/Prominin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:27:0:0:36:1150:131.99:76.13:55.87:1.00:1.00:1.00:60:42.8:0:0:48:99:26:NM_001165978.1(PROM2) c.1948-50C>G,NM_001165978.1(PROM2) c.1948-50C>G:0.99,0.99:0.977241,0.977241 2 95952320 . G . . NT END=95952551;NT GT ./. 2 95952606 . G . . NT END=95952880;NT GT ./. 2 95952962 . G . . NT END=95953143;NT GT ./. 2 95953213 . G . . NT END=95953958;NT GT ./. 2 95954049 . G . . NT END=95954230;NT GT ./. 2 95954338 . G . . NT END=95954680;NT GT ./. 2 95954745 . G . . NT END=95963186;NT GT ./. 2 95962959 rs7557414 G C 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,G:12:12:0:0:10,2:336,55:36.03,0.00:34.08,0.00:1.95,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:42.4,29.0:0,0:0,0:36,64:114,79:8,59:NM_013434.4(KCNIP3) c.-115-u113G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 95963202 . G . . NT END=95976102;NT GT ./. 2 95963242 rs2248415 C G 115 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.2606,A/.,G/0.7394;Gene=KCNIP3/NM_013434.4/1;CC=c.15+41C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:34:0:1:34:991:115.13:109.42:5.72:1.00:1.00:1.00:60:40.4:0:0:113:36:16:NM_013434.4(KCNIP3) c.15+41C>G,NM_013434.4(KCNIP3) c.15+41C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 95976269 . G . . NT END=96012767;NT GT ./. 2 96012871 . G . . NT END=96040043;NT GT ./. 2 96012907 rs7602807 C G 210 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.2598,G/0.7402;Gene=KCNIP3/NM_013434.4/1;CC=c.182-27137C>G;VC=Intron;Gene=KCNIP3/NM_001034914.1/0;CC=c.103+37C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:19:0:0:58:1820:209.62:42.81:166.81:1.00:1.00:1.00:60:39.0:0:0:106:41:24:NM_013434.4(KCNIP3) c.182-27137C>G,NM_013434.4(KCNIP3) c.182-27137C>G:0.73,0.73:0.792891,0.792891 2 96034363 rs2320432 G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.968;Gene=KCNIP3/NM_013434.4/1;CC=c.182-5681G>A;VC=Intron;Gene=KCNIP3/NM_001034914.1/0;CC=c.104-5681G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:165:18.88:11.13:7.75:1.00:1.00:1.00:60:46.2:0:0:92:59:29:NM_013434.4(KCNIP3) c.182-5681G>A,NM_013434.4(KCNIP3) c.182-5681G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 2 96040169 . G . . NT END=96040595;NT GT ./. 2 96040666 . G . . NT END=96040885;NT GT ./. 2 96040957 . G . . NT END=96047343;NT GT ./. 2 96047452 . G . . NT END=96048124;NT GT ./. 2 96048230 . G . . NT END=96048979;NT GT ./. 2 96048862 rs58372613 C T 60 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5463,T/0.4537;PC=0.012;Gene=KCNIP3/NM_013434.4/1;CC=c.661-118C>T;VC=Intron;Gene=KCNIP3/NM_001034914.1/0;CC=c.583-118C>T;VC=Intron;DM=KCNIP3/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:27:0:0:9,18:243,593:0.00,60.42:0.00,60.90:0.00,-0.48:0.00,1.00:0.00,1.00:0.00,0.91:60,60:34.4,94.4:0,0:0,0:10,48:113,98:10,19:-,NM_013434.4(KCNIP3) c.661-118C>T:-,0.43:-,NOT_FOUND 2 96049043 . G . . NT END=96049749;NT GT ./. 2 96049798 . G . . NT END=96071306;NT GT ./. 2 96049917 rs58903840 T TAC 19 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.976;Gene=KCNIP3/NM_013434.4/1;CC=c.*157_*158insCA;VC=3UTR;Gene=KCNIP3/NM_001034914.1/0;CC=c.*157_*158insCA;VC=3UTR;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAC,D:13:5:7:1:6,6,1:196,227,15:0.00,18.70,0.68:0.00,4.68,0.81:0.00,14.02,-0.13:0.00,0.96,0.00:0.00,0.93,0.00:0.00,0.99,0.00:60,60,15:1.7,8.2,0.0:0,1,0:0,0,0:137,72,109:13,79,41:6,15,0:-,NM_013434.4(KCNIP3) c.*156_*157dupCA:-,NOT_FOUND:-,NOT_FOUND 2 96071285 rs116013309 G T 172 nt VT=SNV;PN=T;NN=C;SST=Single;DP=138;DB;DBA=NA;PAF=G/0.9888,T/0.01118;Gene=FAHD2A/NM_016044.2/1;CC=c.-6-16G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:138:123:0:0:77,61:2574,1839:0.00,171.73:0.00,135.33:0.00,36.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,44.1:0,0:0,0:55,63:85,85:31,26:-,NM_016044.2(FAHD2A) c.-6-16G>T:-,0.02:-,0.023604 2 96071552 . G . . NT END=96072688;NT GT ./. 2 96072906 . G . . NT END=96076274;NT GT ./. 2 96076335 . G . . NT END=96076611;NT GT ./. 2 96076409 rs6577014 C T 344 nt VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.004792,T/0.9952;NP=3211;Gene=FAHD2A/NM_016044.2/1;CC=c.522+75C>T;VC=Intron;DM=FAHD2A/FAA_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:93:35:0:0:1,92:8,3008:0.07,344.08:0.00,109.17:0.07,234.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:124.0,40.0:0,0:0,0:100,94:51,56:0,32:NM_016044.2(FAHD2A) c.522+75C>T,NM_016044.2(FAHD2A) c.522+75C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 96076775 . G . . NT END=96078181;NT GT ./. 2 96078291 . G . . NT END=96078424;NT GT ./. 2 96078513 . G . . NT END=96078642;NT GT ./. 2 96078706 . T . . NT END=96142911;NT GT ./. 2 96143394 . C . . NT END=96144507;NT GT ./. 2 96144606 . C . . NT END=96145133;NT GT ./. 2 96145157 . C . . NT END=96146052;NT GT ./. 2 96146284 . C . . NT END=96147342;NT GT ./. 2 96147439 . C . . NT END=96148051;NT GT ./. 2 96148463 . T . . NT END=96259771;NT GT ./. 2 96151574 rs2707329 A C 38 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=131;DB;DBA=NA;PAF=A/0.7664,C/0.2336;NP=41 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:131:31:0:0:112,18,1:3419,519,10:0.00,37.94,-0.31:0.00,-1.25,-0.07:0.00,39.19,-0.24:0.00,1.00,0.00:0.00,0.96,0.00:0.00,1.00,0.00:51,27,1:4.2,34.6,129.0:0,0,0:0,0,0:104,75,95:46,76,40:29,27,0:-,NM_001164464.1(TRIM43B) c.-130-u1095T>G:-,NOT_FOUND:-,NOT_FOUND 2 96184423 rs1862896 C A 175 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.07548,A/0.9245 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A:51:1:0:0:51:1513:175.49:1.84:173.65:1.00:1.00:1.00:60:36.6:0:0:104:46:34:chr2 g.96184422C>A (intergenic),chr2 g.96184422C>A (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 2 96185714 rs35256168 C T 155 nt VT=SNV;PN=G;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.6971,T/0.3029;PC=0.179 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:133:109:0:0:1,76,56:22,2470,1677:0.41,0.00,155.31:0.49,0.00,108.78:-0.07,0.00,46.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:57.0,9.5,43.6:0,0,0:0,0,0:119,64,63:32,81,86:0,27,26:-,chr2 g.96185713C>T (intergenic):-,0.29:-,NOT_FOUND 2 96212699 rs36087694 G A 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.6548,A/0.3452;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:13:0:0:15,25:465,788:42.15,0.00:8.97,0.00:33.18,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:33.3,7.2:0,0:0,0:61,84:89,62:35,41:chr2 g.96212698G>A (intergenic),-:0.3,-:NOT_FOUND,- 2 96260183 . G . . NT END=96260797;NT GT ./. 2 96260894 . G . . NT END=96261949;NT GT ./. 2 96260979 rs7565318 T C 188 nt VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.07628,C/0.9237;PC=0.006;Gene=TRIM43/NM_138800.1/1;CC=c.507+86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:A,C:51:1:0:0:1,50:11,1642:0.22,187.55:0.00,2.03:0.22,185.51:0.00,1.00:0.00,0.99:0.00,1.00:41,60:40.0,43.0:0,0:0,0:146,90:5,59:0,37:NM_138800.1(TRIM43) c.507+86T>C,NM_138800.1(TRIM43) c.507+86T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 96261953 rs200030895 A G 49 lc VT=SNV;PN=C;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=14;Gene=TRIM43/NM_138800.1/1;CC=c.511A>G;ProtCh=p.N171D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:103:79:0:0:83,20:2660,612:0.00,48.78:0.00,27.29:0.00,21.49:0.00,1.00:0.00,1.00:0.00,1.00:60,40:5.4,38.9:0,0:0,0:59,69:83,82:31,28:-,NM_138800.1(TRIM43) c.511A>G (p.Asn171Asp):-,NOT_FOUND:-,NOT_FOUND 2 96262181 . G . . NT END=96263076;NT GT ./. 2 96263100 . G . . NT END=96263627;NT GT ./. 2 96263726 . G . . NT END=96264839;NT GT ./. 2 96265165 rs200456827 C T 63 lc VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=200;Gene=TRIM43/NM_138800.1/1;CC=c.1185C>T;ProtCh=p.Y395=;VC=Silent;DM=TRIM43/SPRY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:45:45:0:0:1,23,21:8,720,660:-0.10,0.00,62.79:-0.10,0.00,62.79:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:39,39,40:144.0,13.8,37.0:0,0,0:0,0,0:12,60,75:139,90,76:0,31,16:-,NM_138800.1(TRIM43) c.1185C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 96265322 . T . . NT END=96517529;NT GT ./. 2 96265407 rs201100953 C CT 116 rn VT=INS;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.5272,CT/0.4728;NP=496;Gene=TRIM43/NM_138800.1/1;CC=c.*92dupT;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CT:94:15:43:0:2,47,2,43:16,1470,20,1228:-0.20,0.00,-0.05,116.14:-0.05,0.00,-0.05,12.12:-0.15,0.00,-0.01,104.01:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:39,39,39,49:33.0,6.4,73.5,11.2:0,0,1,0:0,0,0,0:70,77,64,76:80,73,85,75:21,28,19,21:-,NM_138800.1(TRIM43) c.*92dupT:-,NOT_FOUND:-,NOT_FOUND 2 96265529 rs201596398 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:0:0:0:13,11:392,334:0.00,31.44:0.00,0.00:0.00,31.44:0.00,1.00:0.00,0.00:0.00,1.00:39,45:4.8,42.5:0,0:0,0:126,133:25,17:17,13:-,chr2 g.96265528C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96311188 rs62155100 A ATG 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=2;NP=3;NP=4;NP=96;PC=0.003;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,ATG:3:3:3:2:1,2:34,100:0.00,6.65:0.00,3.07:0.00,3.58:0.00,0.51:0.00,0.89:0.00,0.67:60,60:26.0,0.0:0,1:0,0:73,27:78,123:0,10:-,chr2 g.96311188_96311189insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96321424 rs375781742 GAC G 9 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:4:0:4:3:92:9.35:8.53:0.83:0.85:0.85:0.95:51:17.0:1:0:63:59:28:chr2 g.96321425_96321426delAC (intergenic),chr2 g.96321425_96321426delAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96383057 rs70964873 A AGT 9 idl,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=94;PC=0.048;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,AGT,D:8:8:5:1:4,3,1:128,166,35:0.00,9.34,2.79:0.00,6.27,-0.11:0.00,3.07,2.91:0.00,0.95,0.00:0.00,0.92,0.00:0.00,0.89,0.00:60,60,60:26.2,32.3,0.0:0,2,0:0,0,0:96,62,89:39,88,61:26,4,0:-,chr2 g.96383057_96383058insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96457621 rs62155736 G C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=32 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,G:5:5:0:0:4,1:134,33:14.22,0.00:14.22,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:27,40:46.8,23.0:0,0:0,0:45,58:105,93:19,0:chr2 g.96457620G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96458039 rs200895535 T G 45 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.9407,G/0.05931 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:66:33:0:0:16,50:532,1605:44.97,0.00:0.49,0.00:44.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,51:38.7,6.1:0,0:0,0:121,66:29,84:19,42:chr2 g.96458038T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96466075 rs72823921 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7208,A/0.2792;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:10:0:0:0:7,3:203,102:20.92,0.00:0.00,0.00:20.92,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:55.9,0.0:0,0:0,0:113,129:38,21:16,10:chr2 g.96466074G>A (intergenic),-:0.33,-:NOT_FOUND,- 2 96517502 rs79392443 A C 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6351T>G;ProtCh=p.I2117M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,C,T:67:42:0:0:58,8,1:1870,255,12:0.00,18.77,-0.16:0.00,11.83,-0.17:0.00,6.94,0.01:0.00,0.94,0.00:0.00,0.76,0.00:0.00,0.99,0.00:60,55,30:9.7,79.2,155.0:0,0,0:0,0,0:76,16,27:66,134,110:36,2,0:-,chr2 g.96517501A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96517518 rs74755605 A G 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=1002;PC=0.977;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6335T>C;ProtCh=p.V2112A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:74:45:0:0:61,13:1874,418:0.00,33.09:0.00,17.61:0.00,15.48:0.00,1.00:0.00,1.00:0.00,1.00:60,58:9.8,61.1:0,0:0,0:91,22:51,117:39,11:-,chr2 g.96517517A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96517536 . C . . NT END=96519456;NT GT ./. 2 96517641 rs77668477 C T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=86;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6318-106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:36:11:0:0:31,5:1019,167:0.00,12.79:0.00,1.80:0.00,10.99:0.00,0.78:0.00,0.74:0.00,0.96:60,60:6.9,136.8:0,0:0,0:88,101:59,50:24,6:-,chr2 g.96517640C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96517642 rs4063058 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=16;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6318-107T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:36:11:0:0:32,4:956,144:0.00,10.86:0.00,-0.46:0.00,11.32:0.00,0.61:0.00,0.65:0.00,0.91:60,60:6.7,147.5:0,0:0,0:92,99:56,51:32,6:-,chr2 g.96517641A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96517653 rs5006956 C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1;PC=0.006;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6318-118G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,T:32:10:0:0:28,4:844,139:0.00,10.58:0.00,-0.49:0.00,11.08:0.00,0.63:0.00,0.67:0.00,0.91:60,60:4.1,147.5:0,0:0,0:97,110:51,40:29,6:-,chr2 g.96517652C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96517656 rs2872927 T C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6318-121A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:C,T:30:10:0:0:4,26:140,799:10.80,0.00:-0.53,0.00:11.32,0.00:0.64,0.00:0.70,0.00:0.91,0.00:60,60:147.5,4.4:0,0:0,0:113,90:37,60:6,21:chr2 g.96517655T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96517824 rs76217973 C T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=785;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6317+50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,T:38:32:0:0:34,4:1065,129:0.00,9.26:0.00,5.30:0.00,3.96:0.00,0.60:0.00,0.91:0.00,0.68:60,41:13.1,57.8:0,0:0,0:52,78:98,72:37,57:-,chr2 g.96517823C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96517882 rs62156871 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6309C>T;ProtCh=p.D2103=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,G:55:44:0:0:4,51:137,1491:9.39,0.00:4.52,0.00:4.87,0.00:0.53,0.00:0.88,0.00:0.80,0.00:41,60:67.0,13.3:0,0:0,0:50,34:67,111:16,26:chr2 g.96517881G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96518022 rs4907282 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.5968,A/0.4032;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6247-78C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:5:0:0:14,10:445,328:44.10,0.00:7.48,0.00:36.62,0.00:1.00,0.00:0.98,0.00:1.00,0.00:56,60:44.1,3.0:0,0:0,0:109,119:41,29:28,26:chr2 g.96518021G>A (intergenic),-:0.43,-:NOT_FOUND,- 2 96518088 rs143383024 C T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9822,T/0.01777;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6247-144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:C,T:12:0:0:0:6,6:179,185:0.00,17.76:0.00,0.00:0.00,17.76:0.00,0.98:0.00,0.00:0.00,0.98:60,60:13.0,56.5:0,0:0,0:93,88:58,62:41,31:-,chr2 g.96518087C>T (intergenic):-,0.02:-,NOT_FOUND 2 96519610 . C . . NT END=96521013;NT GT ./. 2 96519753 rs200715312 C T 126 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=1100;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6094-144G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:0:0:0:33:1107:126.44:0.00:126.44:1.00:0.00:1.00:40:41.3:0:0:106:44:27:chr2 g.96519752C>T (intergenic),chr2 g.96519752C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96520971 rs62156905 A G 58 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=A/0.8826,G/0.1174;NP=72;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6093+43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:179:148:0:0:151,26,2:4713,776,19:0.00,58.05,-0.52:0.00,60.83,-0.28:0.00,-2.78,-0.24:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,40,40:8.2,85.6,95.5:0,0,0:0,0,0:60,78,93:87,72,58:34,8,13:-,chr2 g.96520970A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96521107 rs115953176 G A 48 sb;end,lc VT=SNV;PN=A;NN=A;SST=Single;DP=268;DB;DBA=NA;PAF=G/0.9429,A/.,T/0.05711;Gene=ANKRD36C/NM_001310154.1/1;CC=c.6000C>T;ProtCh=p.L2000=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,C,G,T:268:194:0:0:23,1,241,3:707,10,7858,26:47.80,-0.38,0.00,-0.92:49.14,-0.20,0.00,-0.45:-1.34,-0.17,0.00,-0.47:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,57,60,60:97.8,160.0,7.8,67.0:0,0,0,0:0,0,0,0:4,113,56,82:145,15,93,68:3,0,36,8:chr2 g.96521106G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96521138 rs5005871 T C 285 lc VT=SNV;PN=G;NN=T;SST=Single;DP=368;DB;DBA=NA;PAF=NA;NP=521;PC=0.155;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5969A>G;ProtCh=p.N1990S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:368:263:0:0:1,98,269:9,3305,8521:-0.33,284.81,0.00:-0.19,212.78,0.00:-0.14,72.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:1,51,60:57.0,76.4,6.2:0,0,0:0,0,0:30,18,56:121,130,93:0,11,32:chr2 g.96521137T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96521154 rs77972623 C G 79 lc VT=SNV;PN=T;NN=A;SST=Single;DP=416;DB;DBA=NA;PAF=NA;NP=1433;PC=0.998;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5953G>C;ProtCh=p.D1985H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,G:416:297:0:0:380,36:12779,1146:0.00,78.73:0.00,55.74:0.00,22.98:0.00,1.00:0.00,1.00:0.00,1.00:60,51:24.8,78.7:0,0:0,0:45,18:104,132:27,15:-,chr2 g.96521153C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96521220 rs5005870 G A 519 lc VT=SNV;PN=A;NN=T;SST=Single;DP=627;DB;DBA=NA;PAF=NA;NP=3409;PC=0.028;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5887C>T;ProtCh=p.L1963=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:627:477:0:0:180,446,1:5962,14863,8:519.05,0.00,-0.37:290.30,0.00,-0.19:228.75,0.00,-0.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,60,40:78.7,24.1,108.0:0,0,0:0,0,0:65,68,65:76,75,83:24,34,0:chr2 g.96521219G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96521297 rs5005869 T C 725 lc VT=SNV;PN=A;NN=T;SST=Single;DP=546;DB;DBA=NA;PAF=NA;NP=3323;PC=0.068;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5810A>G;ProtCh=p.N1937S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:546:353:0:0:1,228,317:8,7774,10223:-0.26,725.31,0.00:-0.15,219.31,0.00:-0.12,506.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,43,60:90.0,105.3,10.3:0,0,0:0,0,0:53,99,74:97,46,75:0,27,38:chr2 g.96521296T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96521324 rs5005868 A G 472 lc VT=SNV;PN=A;NN=T;SST=Single;DP=482;DB;DBA=NA;PAF=NA;NP=475;PC=0.578;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5783T>C;ProtCh=p.I1928T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:482:265:0:0:316,1,163,2:9889,13,5272,19:0.00,-0.23,471.55,-0.47:0.00,-0.14,59.42,-0.21:0.00,-0.09,412.13,-0.26:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,12,42,42:8.4,170.0,128.5,86.5:0,0,0,0:0,0,0,0:67,68,105,123:82,83,46,27:35,0,18,11:-,chr2 g.96521323A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96521334 rs201192250 T C 147 lc VT=SNV;PN=A;NN=T;SST=Single;DP=472;DB;DBA=NA;PAF=NA;NP=13;PC=1.000;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5773A>G;ProtCh=p.M1925V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:472:251:0:0:60,412:1963,13223:147.10,0.00:9.22,0.00:137.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:147.3,32.6:0,0:0,0:108,90:42,60:15,35:chr2 g.96521333T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96521336 rs5005867 T C 369 lc VT=SNV;PN=T;NN=G;SST=Single;DP=475;DB;DBA=NA;PAF=NA;NP=180;PC=1.000;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5771A>G;ProtCh=p.Q1924R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:475:251:0:0:141,2,332:4272,29,10836:369.26,-0.25,0.00:29.65,0.03,0.00:339.61,-0.28,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,60,60:133.3,137.5,8.2:0,0,0:0,0,0:113,46,68:38,78,81:16,1,35:chr2 g.96521335T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96521929 . C . . NT END=96523056;NT GT ./. 2 96523006 rs12717776 A C 96 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.1623,C/0.8377;PC=0.194;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5178+51T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:62:60:0:0:30,31,1:1006,999,12:0.00,96.31,0.02:0.00,85.14,0.04:0.00,11.16,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:46.0,106.1,36.0:0,0,0:0,0,0:53,49,149:97,99,2:29,24,0:-,chr2 g.96523005A>C (intergenic):-,0.84:-,NOT_FOUND 2 96523009 rs12717777 A C 105 nt VT=SNV;PN=T;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.1623,C/0.8377;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5178+48T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:60:0:0:31,32:988,1086:0.00,104.92:0.00,89.16:0.00,15.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.5,113.0:0,0:0,0:76,36:75,114:31,23:-,chr2 g.96523008A>C (intergenic):-,0.84:-,NOT_FOUND 2 96523047 rs12717778 A G 287 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.1697,G/0.8303;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5178+10T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:79:70:0:0:79:2491:286.53:210.43:76.10:1.00:1.00:1.00:60:80.9:0:0:46:103:28:chr2 g.96523046A>G (intergenic),chr2 g.96523046A>G (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 2 96523096 rs10211258 T C 415 lc VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.3373,C/0.6627;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5139A>G;ProtCh=p.A1713=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:114:88:0:0:114:3604:414.67:260.98:153.69:1.00:1.00:1.00:60:68.6:0:0:64:84:35:chr2 g.96523095T>C (intergenic),chr2 g.96523095T>C (intergenic):0.67,0.67:NOT_FOUND,NOT_FOUND 2 96523194 rs35461149 A C 141 lc VT=SNV;PN=A;NN=C;SST=Single;DP=146;DB;DBA=NA;PAF=NA;NP=736;PC=0.020;Gene=ANKRD36C/NM_001310154.1/1;CC=c.5041T>G;ProtCh=p.L1681V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:146:85:0:0:92,53,1:2773,1575,13:0.00,141.40,-0.14:0.00,59.26,-0.13:0.00,82.15,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:48,42,40:22.7,43.8,13.0:0,0,0:0,0,0:82,88,77:65,63,74:31,38,0:-,chr2 g.96523193A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96523241 . C . . NT END=96525608;NT GT ./. 2 96523430 rs4907283 C T 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6943,T/0.3057;NP=198;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4995-190G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:8,12:247,383:0.00,38.15:0.00,0.00:0.00,38.15:0.00,1.00:0.00,0.00:0.00,1.00:40,40:7.9,45.6:0,0:0,0:131,103:18,47:6,20:-,chr2 g.96523429C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525344 rs76509642 T A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+265A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,T:13:13:0:0:9,4:258,142:26.50,0.00:26.50,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:46,60:151.9,2.8:0,0:0,0:40,47:110,103:18,5:chr2 g.96525343T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525371 rs78883758 G C 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=7;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+238C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:19:19:0:0:1,10,8:10,302,241:0.19,29.56,0.00:0.19,29.56,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:46,40,60:192.0,162.4,7.9:0,0,0:0,0,0:89,53,44:61,97,105:0,21,29:chr2 g.96525370G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525372 rs78946769 G A 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=10;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+237C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:10,8:325,259:31.90,0.00:31.90,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:46,60:173.3,7.9:0,0:0,0:54,45:96,104:21,29:chr2 g.96525371G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525397 rs76939063 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=23;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+212A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:9,15:309,484:28.30,0.00:28.30,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,60:171.2,17.0:0,0:0,0:77,38:73,113:16,27:chr2 g.96525396T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525437 rs370727309 A AT 31 nt VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=99;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+171dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:40:40:21:0:19,21:610,338:0.00,31.01:0.00,31.01:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,40:3.3,212.8:0,0:0,0:57,30:94,121:27,24:-,chr2 g.96525437_96525438insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525453 rs73958141 T A 79 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=151;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+156A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:45:0:0:25,20:808,612:79.33,0.00:79.33,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,60:225.6,3.9:0,0:0,0:34,60:116,89:16,39:chr2 g.96525452T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525483 rs112872957 C T 105 nt VT=SNV;PN=C;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=61;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:61:0:0:30,32:955,1084:0.00,105.01:0.00,105.33:0.00,-0.32:0.00,1.00:0.00,1.00:0.00,0.68:60,40:2.6,236.1:0,0:0,0:46,49:104,100:36,27:-,chr2 g.96525482C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525507 rs140490087 C T 134 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=6;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:80:0:0:40,41:1200,1390:0.00,134.20:0.00,134.51:0.00,-0.31:0.00,1.00:0.00,1.00:0.00,0.67:60,41:1.2,238.8:0,0:0,0:43,45:107,105:25,30:-,chr2 g.96525506C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525532 rs145519218 G A 159 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.9986,A/0.001398;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+77C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:94:0:0:49,49:1652,1492:159.08,0.00:160.74,0.00:-1.66,0.00:1.00,0.00:1.00,0.00:0.99,0.00:41,52:240.7,1.0:0,0:0,0:60,45:89,106:34,28:chr2 g.96525531G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525533 rs150757101 C T 153 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:98:94:0:0:49,49:1658,1591:0.00,152.91:0.00,154.56:0.00,-1.66:0.00,1.00:0.00,1.00:0.00,0.99:52,41:1.0,240.7:0,0:0,0:46,61:105,88:28,34:-,chr2 g.96525532C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525545 rs112575422 T C 171 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=5;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+64A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:109:104:0:0:57,52:1766,1796:170.98,0.00:170.17,0.00:0.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,50:232.6,0.7:0,0:0,0:64,54:87,96:35,27:chr2 g.96525544T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525556 rs112217943 C T 207 nt VT=SNV;PN=A;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=24;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:122:0:0:61,67:1971,2137:0.00,207.20:0.00,197.87:0.00,9.32:0.00,1.00:0.00,1.00:0.00,1.00:51,52:4.2,216.9:0,0:0,0:47,53:102,98:30,39:-,chr2 g.96525555C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525576 rs150177125 C T 269 nt VT=SNV;PN=A;NN=A;SST=Single;DP=166;DB;DBA=NA;PAF=NA;NP=152;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4994+33G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:166:149:0:0:79,87:2638,2774:0.00,269.00:0.00,218.70:0.00,50.30:0.00,1.00:0.00,1.00:0.00,1.00:60,55:4.6,195.3:0,0:0,0:45,38:103,113:31,30:-,chr2 g.96525575C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525640 rs77864759 G T 237 lc VT=SNV;PN=A;NN=T;SST=Single;DP=270;DB;DBA=NA;PAF=NA;PC=0.176;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4963C>A;ProtCh=p.L1655I;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:270:207:0:0:188,82:6404,2698:0.00,236.93:0.00,142.57:0.00,94.36:0.00,1.00:0.00,1.00:0.00,1.00:60,59:72.3,182.5:0,0:0,0:56,58:89,78:25,18:-,chr2 g.96525639G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525643 rs75198192 T C 224 lc VT=SNV;PN=G;NN=T;SST=Single;DP=264;DB;DBA=NA;PAF=NA;NP=948;PC=0.758;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4960A>G;ProtCh=p.T1654A;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:264:201:0:0:75,189:2570,6038:224.37,0.00:126.27,0.00:98.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:173.4,78.6:0,0:0,0:50,58:100,86:19,23:chr2 g.96525642T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525652 rs77710257 T C 492 lc VT=SNV;PN=T;NN=T;SST=Single;DP=261;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4951A>G;ProtCh=p.K1651E;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:261:193:0:0:146,115:5002,3737:492.04,0.00:270.91,0.00:221.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:179.5,5.3:0,0:0,0:61,72:85,77:18,31:chr2 g.96525651T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525659 rs72931750 C T 197 lc VT=SNV;PN=G;NN=G;SST=Single;DP=263;DB;DBA=NA;PAF=NA;PC=0.575;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4944G>A;ProtCh=p.S1648=;VC=Silent;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:263:192:0:0:194,69:6340,2293:0.00,196.54:0.00,102.23:0.00,94.31:0.00,1.00:0.00,1.00:0.00,1.00:60,59:69.8,186.6:0,0:0,0:71,72:76,73:26,18:-,chr2 g.96525658C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525717 rs111957693 A AT 248 lc VT=INS;SST=Single;DP=225;DB;DBA=NA;PAF=NA;PC=0.991;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4885_4886insA;ProtCh=p.L1629Hfs*4;VC=FrameShiftIns;DM=ANKRD36C/CCDC144C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:225:132:92:0:133,92:4363,2702:0.00,247.86:0.00,110.57:0.00,137.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.6,209.0:2,0:0,0:88,112:61,34:36,12:-,chr2 g.96525717_96525718insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525718 rs77057279 G T 302 idl,lc VT=SNV;PN=A;NN=T;SST=Single;DP=209;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.679;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4885C>A;ProtCh=p.L1629M;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:209:118:0:0:108,101:3545,3171:0.00,302.32:0.00,121.46:0.00,180.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,204.0:0,93:0,0:84,115:64,30:34,13:-,chr2 g.96525717G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525723 rs77757712 C T 249 lc VT=SNV;PN=T;NN=G;SST=Single;DP=195;DB;DBA=NA;PAF=NA;NP=2;PC=1.000;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4880G>A;ProtCh=p.R1627Q;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:195:101:0:0:113,82:3498,2679:0.00,249.42:0.00,94.45:0.00,154.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,213.6:0,1:0,0:88,115:62,31:35,12:-,chr2 g.96525722C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525736 rs78585559 T C 196 lc VT=SNV;PN=C;NN=A;SST=Single;DP=179;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4867A>G;ProtCh=p.R1623G;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:179:87:0:0:72,107:2139,3499:195.76,0.00:64.35,0.00:131.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:224.3,4.5:0,0:0,0:124,90:25,60:9,32:chr2 g.96525735T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525750 rs76379993 T A 131 lc VT=SNV;PN=G;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=NA;PC=0.108;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4853A>T;ProtCh=p.H1618L;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:148:55:0:0:48,100:1491,3298:131.47,0.00:20.44,0.00:111.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:249.5,3.2:0,0:0,0:131,89:18,61:11,33:chr2 g.96525749T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525755 rs77658288 A T 118 lc VT=SNV;PN=T;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=NA;PC=0.158;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4848T>A;ProtCh=p.D1616E;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:141:53:0:0:98,43:3192,1347:0.00,117.55:0.00,22.35:0.00,95.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,250.4:0,0:0,0:93,135:57,13:30,9:-,chr2 g.96525754A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525768 rs78780931 G A 50 lc VT=SNV;PN=T;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=1;PC=1.000;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4835C>T;ProtCh=p.T1612I;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:116:40:0:0:25,91:640,2939:49.75,0.00:2.67,0.00:47.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:264.8,3.0:0,0:0,0:111,93:40,52:38,34:chr2 g.96525767G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525771 rs74941794 A C 31 lc VT=SNV;PN=T;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=NA;PC=0.998;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4832T>G;ProtCh=p.L1611*;VC=Nonsense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:108:38:0:0:90,17,1:2836,433,7:0.00,31.20,-0.31:0.00,2.28,-0.09:0.00,28.92,-0.22:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,41:3.9,261.0,207.0:0,0,0:0,0,0:91,98,59:55,52,79:35,36,0:-,chr2 g.96525770A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525782 rs75657861 T C 38 sb,lc VT=SNV;PN=A;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.9976,C/0.002396;NP=3;PC=0.297;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4821A>G;ProtCh=p.L1607=;VC=Silent;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:102:34:0:0:19,83:502,2629:38.04,0.00:1.98,0.00:36.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:253.1,4.0:0,0:0,0:107,98:43,49:37,32:chr2 g.96525781T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525794 rs79908880 C A 47 lc VT=SNV;PN=T;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=0.593;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4809G>T;ProtCh=p.K1603N;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:95:27:0:0:19,76:590,2478:47.45,0.00:2.57,0.00:44.88,0.00:1.00,0.00:0.99,0.00:1.00,0.00:52,60:252.4,3.9:0,0:0,0:82,95:56,49:47,35:chr2 g.96525793C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525823 . C . . NT END=96533187;NT GT ./. 2 96525831 rs77253664 A G 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4781-9T>C;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:65:10:0:0:53,12:1785,331:0.00,25.36:0.00,-0.57:0.00,25.93:0.00,1.00:0.00,0.82:0.00,1.00:60,41:4.7,249.1:0,0:0,0:93,70:58,78:30,26:-,chr2 g.96525830A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525839 rs75012806 A G 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=2;PC=0.927;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4781-17T>C;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:6:0:0:50,12:1510,413:0.00,33.81:0.00,-0.42:0.00,34.23:0.00,1.00:0.00,0.70:0.00,1.00:60,41:6.1,249.1:0,0:0,0:94,78:56,70:28,26:-,chr2 g.96525838A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96525871 rs75993187 T C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4781-49A>G;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:47:2:0:0:9,1,37:311,10,1162:25.52,-0.15,0.00:-0.09,-0.01,0.00:25.62,-0.14,0.00:0.98,0.00,0.00:0.46,0.00,0.00:0.98,0.00,0.00:40,43,60:248.1,61.0,8.6:0,0,0:0,0,0:108,40,110:43,111,41:5,0,24:chr2 g.96525870T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525913 rs74902326 T G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.013;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4781-91A>C;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:G,T:29:1:0:0:5,24:164,734:13.00,0.00:-0.04,0.00:13.05,0.00:0.80,0.00:0.45,0.00:0.80,0.00:40,60:258.2,9.8:0,0:0,0:128,90:23,61:20,36:chr2 g.96525912T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525915 rs2696800 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4781-93A>G;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,T:26:1:0:0:3,23:104,756:7.79,0.00:-0.03,0.00:7.82,0.00:0.45,0.00:0.41,0.00:0.45,0.00:31,60:250.3,10.3:0,0:0,0:123,84:27,67:7,36:chr2 g.96525914T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96525917 rs76068191 T C 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4781-95A>G;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:C,T:25:1:0:0:3,22:102,683:7.65,0.00:-0.03,0.00:7.68,0.00:0.46,0.00:0.41,0.00:0.46,0.00:31,60:250.3,10.4:0,0:0,0:125,83:25,67:7,35:chr2 g.96525916T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96533330 . C . . NT END=96542186;NT GT ./. 2 96542261 . C . . NT END=96546174;NT GT ./. 2 96542468 rs186823689 T C 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4565-208A>G;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:10,10:297,300:28.45,0.00:0.00,0.00:28.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:41,51:51.3,10.3:0,0:0,0:129,122:21,28:12,19:chr2 g.96542467T>C (intergenic),-:0.19,-:NOT_FOUND,- 2 96546248 . C . . NT END=96546342;NT GT ./. 2 96546352 rs189877528 G A 98 lc VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.9824,A/0.01757;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4482C>T;ProtCh=p.P1494=;VC=Silent;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:29:0:0:30,32:1027,1035:98.37,0.00:37.44,0.00:60.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,51:41.2,4.5:0,0:0,0:45,95:101,55:28,46:chr2 g.96546351G>A (intergenic),-:0.02,-:NOT_FOUND,- 2 96546372 . C . . NT END=96548049;NT GT ./. 2 96547801 rs2258822 A G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=825;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4462+249T>C;VC=Intron;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:271:31.81:31.81:0.00:1.00:1.00:0.00:40:38.6:0:0:42:108:15:chr2 g.96547800A>G (intergenic),chr2 g.96547800A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96548068 rs11695514 C T 230 lc VT=SNV;PN=C;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=C/0.7208,T/0.2792;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4444G>A;ProtCh=p.G1482S;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:167:133:0:0:1,91,75:11,2769,2443:-0.16,0.00,230.43:-0.16,0.00,154.92:-0.00,0.00,75.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:57,55,60:122.0,7.9,40.1:0,0,0:0,0,0:85,55,47:57,95,100:0,27,24:-,chr2 g.96548067C>T (intergenic):-,0.33:-,NOT_FOUND 2 96548123 . C . . NT END=96548216;NT GT ./. 2 96548246 . C . . NT END=96549920;NT GT ./. 2 96549994 . C . . NT END=96550087;NT GT ./. 2 96550117 . C . . NT END=96551795;NT GT ./. 2 96551869 . C . . NT END=96551963;NT GT ./. 2 96551974 rs202079647 A G 84 lc VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=187;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4175T>C;ProtCh=p.L1392P;VC=Missense;DM=ANKRD36C/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:G,T:26:1:0:0:25,1:724,10:83.81,0.30:3.16,0.00:80.65,0.30:1.00,0.00:0.97,0.00:1.00,0.00:40,40:36.3,102.0:0,0:0,0:102,55:48,94:16,0:chr2 g.96551973A>G (intergenic),chr2 g.96551973A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96551993 . C . . NT END=96553672;NT GT ./. 2 96553746 . C . . NT END=96553839;NT GT ./. 2 96553772 rs4907218 G C 340 nt VT=SNV;PN=T;NN=A;SST=Single;DP=235;DB;DBA=NA;PAF=G/0.5976,C/0.4024;PC=0.033;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4084-27C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:235:181:0:0:2,108,125:36,3584,4023:0.74,340.04,0.00:0.92,223.88,0.00:-0.17,116.16,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,60,60:18.0,38.5,9.3:0,0,0:0,0,0:138,57,63:11,90,87:11,33,38:chr2 g.96553771G>C (intergenic),-:0.35,-:NOT_FOUND,- 2 96553869 . C . . NT END=96555546;NT GT ./. 2 96555522 rs12471925 C A 105 nt VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.7198,A/0.2802;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.4054+25G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:71:62:0:0:35,36:1098,1145:105.09,0.00:79.15,0.00:25.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:47.7,1.9:0,0:0,0:58,42:90,105:39,34:chr2 g.96555521C>A (intergenic),-:0.28,-:NOT_FOUND,- 2 96555620 . C . . NT END=96555713;NT GT ./. 2 96555743 . C . . NT END=96557412;NT GT ./. 2 96557415 . C G 40 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=223;PC=0.053;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3950G>C;ProtCh=p.R1317T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,G,T:223:178:0:0:205,17,1:6717,578,9:0.00,39.87,-0.32:0.00,35.74,-0.20:0.00,4.13,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,50,60:7.6,186.2,67.0:0,0,0:0,0,0:58,19,36:90,130,105:28,10,0:-,chr2 g.96557414C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96557422 . T A 48 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=227;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3943A>T;ProtCh=p.T1315S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,C,G,T:227:175:0:0:22,1,2,202:687,10,21,6239:48.00,-0.31,-0.58,0.00:41.69,-0.17,-0.42,0.00:6.31,-0.13,-0.16,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:52,53,59,60:169.9,123.0,119.5,7.0:0,0,0,0:0,0,0,0:17,70,24,55:126,80,126,88:15,0,8,26:chr2 g.96557421T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96557434 . G C 58 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=242;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3931C>G;ProtCh=p.H1311D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:242:178:0:0:1,27,213,1:7,815,7010,11:-0.35,57.94,0.00,-0.32:-0.20,42.02,0.00,-0.17:-0.15,15.92,0.00,-0.15:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:53,52,60,60:123.0,156.0,7.5,11.0:0,0,3,0:0,0,0,0:82,28,63,150:68,122,80,1:0,15,29,0:chr2 g.96557433G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96557442 . C T 70 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=247;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3923G>A;ProtCh=p.G1308E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:247:174:0:0:215,32:6905,963:0.00,70.45:0.00,39.97:0.00,30.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,140.3:3,0:0,0:70,32:75,115:30,13:-,chr2 g.96557441C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96557455 . T A 72 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=258;NP=134;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3910A>T;ProtCh=p.N1304Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:258:174:0:0:33,1,224:989,36,7092:72.11,1.30,0.00:33.34,0.63,0.00:38.77,0.67,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:57,50,60:130.3,59.0,8.6:0,0,0:0,0,0:41,14,76:102,136,69:16,0,32:chr2 g.96557454T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96557486 . C . . NT END=96557579;NT GT ./. 2 96557609 . C . . NT END=96559280;NT GT ./. 2 96559064 rs12717779 T C 49 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.5905,C/0.4095;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3850+217A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:31:0:0:16,16:510,500:49.01,0.00:49.31,0.00:-0.30,0.00:1.00,0.00:1.00,0.00:0.67,0.00:57,60:55.1,14.9:0,0:0,0:36,56:114,92:19,32:chr2 g.96559063T>C (intergenic),-:0.23,-:NOT_FOUND,- 2 96559354 . C . . NT END=96559443;NT GT ./. 2 96559473 . C . . NT END=96561146;NT GT ./. 2 96559751 rs60273147 G A 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.7208,A/0.2792;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3749-279C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:8,12:257,389:23.67,0.00:0.00,0.00:23.67,0.00:0.99,0.00:0.00,0.00:0.99,0.00:50,50:34.8,7.7:0,0:0,0:66,89:84,61:26,34:chr2 g.96559750G>A (intergenic),-:0.32,-:NOT_FOUND,- 2 96560842 rs62153685 C T 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=198;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3748+305G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:4:4:0:0:2,2:66,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:25,25:3.5,33.5:0,0:0,0:7,24:142,126:1,12:-,chr2 g.96560841C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96561220 . C . . NT END=96561309;NT GT ./. 2 96561339 . C . . NT END=96563017;NT GT ./. 2 96561474 rs202146660 A T 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=443;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3647-136T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:95:2:0:0:74,2,19:2440,13,617:0.00,-0.52,50.33:0.00,-0.01,-0.10:0.00,-0.51,50.43:0.00,0.00,1.00:0.00,0.00,0.47:0.00,0.00,1.00:60,56,48:7.2,122.5,50.3:0,0,0:0,0,0:109,97,132:37,53,19:25,2,12:-,chr2 g.96561473A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96561496 rs112881266 A G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=157;PC=0.016;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3647-158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,C,G:71:0:0:0:61,1,9:1782,20,279:0.00,0.34,20.55:0.00,0.00,0.00:0.00,0.34,20.55:0.00,0.00,0.97:0.00,0.00,0.00:0.00,0.00,0.97:60,52,40:8.1,237.0,67.6:0,0,0:0,0,0:109,117,131:34,34,20:32,0,18:-,chr2 g.96561495A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96562873 rs4907219 C A 61 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.7268,A/0.2732;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3646+145G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:56:56:0:0:21,34,1:669,1078,10:61.04,0.00,-0.10:61.04,0.00,-0.10:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:57,60,56:35.0,12.0,10.0:0,0,0:0,0,0:64,35,50:87,114,100:23,19,0:chr2 g.96562872C>A (intergenic),-:0.32,-:NOT_FOUND,- 2 96563091 . C . . NT END=96563184;NT GT ./. 2 96563206 rs4907220 A T 213 lc VT=SNV;PN=C;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=A/0.727,T/0.273;PC=0.072;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3552T>A;ProtCh=p.S1184=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:181:88:0:0:109,1,71:3666,5,2316:0.00,-0.27,213.03:0.00,-0.12,47.74:0.00,-0.15,165.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,40,51:4.3,147.0,43.1:0,0,0:0,0,0:71,79,76:72,72,74:25,0,34:-,chr2 g.96563205A>T (intergenic):-,0.26:-,NOT_FOUND 2 96563214 . C . . NT END=96564892;NT GT ./. 2 96563374 rs148683787 T C 110 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=780;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3545-161A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C:34:0:0:0:34:940:109.84:0.00:109.84:1.00:0.00:1.00:40:38.3:0:0:109:42:28:chr2 g.96563373T>C (intergenic),chr2 g.96563373T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96563621 rs142222829 A C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=19;PC=0.042;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3545-408T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:42:41.0:0:0:116:34:23:chr2 g.96563620A>C (intergenic),chr2 g.96563620A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96564966 . C . . NT END=96565055;NT GT ./. 2 96565085 . C . . NT END=96566762;NT GT ./. 2 96566836 . C . . NT END=96566925;NT GT ./. 2 96566955 . C . . NT END=96568633;NT GT ./. 2 96568707 . C . . NT END=96568800;NT GT ./. 2 96568830 . C . . NT END=96570508;NT GT ./. 2 96569017 rs62153692 C T 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.7236,T/0.2764;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3239-188G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:0:0:0:24,21:680,679:0.00,64.42:0.00,0.00:0.00,64.42:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.0,39.8:0,0:0,0:71,117:79,34:31,19:-,chr2 g.96569016C>T (intergenic):-,0.33:-,NOT_FOUND 2 96570582 . C . . NT END=96570671;NT GT ./. 2 96570701 . C . . NT END=96572378;NT GT ./. 2 96572452 . C . . NT END=96572541;NT GT ./. 2 96572571 . C . . NT END=96574249;NT GT ./. 2 96573879 rs62153693 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.723,A/0.277;NP=253;Gene=ANKRD36C/NM_001310154.1/1;CC=c.3034+371C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,G:4:4:0:0:3,1:89,29:9.35,0.00:9.35,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:42,19:35.3,0.0:0,0:0,0:104,50:47,101:25,0:chr2 g.96573878G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96574323 . C . . NT END=96574416;NT GT ./. 2 96574446 . C . . NT END=96576120;NT GT ./. 2 96574551 rs62153694 C T 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=504;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2933-106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:11:0:0:56,32:1615,1039:0.00,94.20:0.00,17.72:0.00,76.48:0.00,1.00:0.00,0.82:0.00,1.00:52,51:9.1,34.9:0,0:0,0:99,117:51,33:40,21:-,chr2 g.96574550C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96576194 . C . . NT END=96576287;NT GT ./. 2 96576317 . C . . NT END=96577991;NT GT ./. 2 96576595 rs4907222 A G 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.7248,G/0.2752;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2831-279T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:1:0:0:13,11:395,301:0.00,28.16:0.00,1.72:0.00,26.44:0.00,1.00:0.00,0.64:0.00,1.00:60,60:23.7,112.9:0,0:0,0:72,66:78,85:38,46:-,chr2 g.96576594A>G (intergenic):-,0.27:-,NOT_FOUND 2 96576596 rs4907223 A G 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.7246,G/0.2754;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2831-280T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:24:1:0:0:13,10,1:436,280,11:0.00,25.90,0.14:0.00,1.75,0.00:0.00,24.15,0.14:0.00,1.00,0.00:0.00,0.61,0.00:0.00,1.00,0.00:60,60,60:23.7,105.8,146.0:0,0,0:0,0,0:73,72,132:77,79,19:38,32,0:-,chr2 g.96576595A>G (intergenic):-,0.27:-,NOT_FOUND 2 96576609 rs4907224 A T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.7248,T/0.2752;PC=0.012;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2831-293T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:1:0:0:11,9:292,259:0.00,24.18:0.00,1.77:0.00,22.41:0.00,1.00:0.00,0.63:0.00,1.00:60,60:15.1,120.3:0,0:0,0:81,80:70,71:33,18:-,chr2 g.96576608A>T (intergenic):-,0.32:-,NOT_FOUND 2 96576670 rs4907225 C T 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.721,T/0.279;NP=46;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2831-354G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:13:0:0:0:7,6:232,190:0.00,17.97:0.00,0.00:0.00,17.97:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,118.7:0,0:0,0:117,109:31,41:8,18:-,chr2 g.96576669C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96578065 . C . . NT END=96578154;NT GT ./. 2 96578184 . C . . NT END=96579855;NT GT ./. 2 96578247 rs58719199 G A 251 nt VT=SNV;PN=C;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=G/0.7208,A/0.2792;PC=0.015;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2729-64C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:144:54:0:0:81,62,1:2545,2025,12:250.60,0.00,-0.07:81.28,0.00,-0.04:169.32,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.1,12.6,169.0:0,0,0:0,0,0:99,100,16:45,45,135:31,33,0:chr2 g.96578246G>A (intergenic),-:0.27,-:NOT_FOUND,- 2 96579929 . C . . NT END=96580022;NT GT ./. 2 96580052 . C . . NT END=96581727;NT GT ./. 2 96580165 rs62153699 T C 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.9411,C/0.05891;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2627-114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:5:0:0:28,25:938,777:91.23,0.00:6.81,0.00:84.41,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:37.5,16.3:0,0:0,0:98,95:52,55:19,43:chr2 g.96580164T>C (intergenic),-:0.08,-:NOT_FOUND,- 2 96581801 . C . . NT END=96581890;NT GT ./. 2 96581920 . C . . NT END=96583602;NT GT ./. 2 96583676 . C . . NT END=96583761;NT GT ./. 2 96583735 rs4605406 A C 323 nt VT=SNV;PN=A;NN=T;SST=Single;DP=251;DB;DBA=NA;PAF=A/0.721,C/0.279;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2451+27T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:251:145:0:0:146,105:4758,3471:0.00,323.07:0.00,121.00:0.00,202.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,52.9:0,0:0,0:63,72:83,78:33,42:-,chr2 g.96583734A>C (intergenic):-,0.27:-,NOT_FOUND 2 96583791 . C . . NT END=96585480;NT GT ./. 2 96583823 rs4613327 G A 236 nt VT=SNV;PN=T;NN=T;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.7218,A/0.2782;NP=743;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2423-33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:196:91:0:0:82,114:2545,3877:235.63,0.00:72.10,0.00:163.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:55.0,9.1:0,0:0,0:101,109:49,35:28,23:chr2 g.96583822G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96585554 . C . . NT END=96585639;NT GT ./. 2 96585669 . C . . NT END=96587354;NT GT ./. 2 96585703 rs202058516 A G 221 nt VT=SNV;PN=T;NN=T;SST=Single;DP=192;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2321-35T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:192:112:0:0:122,70:3990,2419:0.00,220.60:0.00,105.36:0.00,115.24:0.00,1.00:0.00,1.00:0.00,1.00:60,45:3.6,40.7:0,0:0,0:99,111:43,35:32,14:-,chr2 g.96585702A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96587428 . C . . NT END=96587529;NT GT ./. 2 96587496 rs56791141 C T 228 nt VT=SNV;PN=T;NN=A;SST=Single;DP=138;DB;DBA=NA;PAF=C/0.6004,T/0.3996;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.2247+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:138:61:0:0:64,74:2119,2344:0.00,228.28:0.00,86.12:0.00,142.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,39.6:0,0:0,0:93,85:57,64:33,41:-,chr2 g.96587495C>T (intergenic):-,0.44:-,NOT_FOUND 2 96587559 . C . . NT END=96589242;NT GT ./. 2 96589316 . C . . NT END=96589408;NT GT ./. 2 96589438 . C . . NT END=96591099;NT GT ./. 2 96591173 . C . . NT END=96591266;NT GT ./. 2 96591296 . C . . NT END=96592961;NT GT ./. 2 96592982 . T C 40 lc VT=SNV;PN=C;NN=C;SST=Single;DP=179;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1919A>G;ProtCh=p.E640G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:C,T:179:140:0:0:18,161:563,5372:39.54,0.00:37.14,0.00:2.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:219.4,5.8:0,0:0,0:28,53:118,92:17,27:chr2 g.96592981T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593000 rs111976783 A G 61 lc VT=SNV;PN=T;NN=T;SST=Single;DP=195;DB;DBA=NA;PAF=NA;NP=74;PC=0.016;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1901T>C;ProtCh=p.I634T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:195:147:0:0:169,1,25:5401,13,813:0.00,-0.26,60.94:0.00,-0.21,53.03:0.00,-0.05,7.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,44,53:5.7,72.0,214.1:0,0,0:0,0,0:65,106,25:83,45,118:26,0,14:-,chr2 g.96592999A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96593016 rs79307257 C A 81 lc VT=SNV;PN=T;NN=T;SST=Single;DP=210;DB;DBA=NA;PAF=NA;NP=25;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1885G>T;ProtCh=p.D629Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:210:153:0:0:33,177:1047,5984:80.83,0.00:58.63,0.00:22.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,60:200.3,5.5:0,0:0,0:34,74:115,75:18,27:chr2 g.96593015C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593025 rs75189823 C T 85 lc VT=SNV;PN=T;NN=A;SST=Single;DP=212;DB;DBA=NA;PAF=NA;NP=20;PC=0.005;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1876G>A;ProtCh=p.D626N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:212:152:0:0:178,34:5912,1091:0.00,84.86:0.00,59.68:0.00,25.18:0.00,1.00:0.00,1.00:0.00,1.00:60,53:5.7,198.2:0,0:0,0:73,41:74,107:28,18:-,chr2 g.96593024C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96593035 . C . . NT END=96593128;NT GT ./. 2 96593048 rs371586106 G GA 55 nt VT=INS;SST=Single;DP=224;DB;DBA=NA;PAF=NA;NP=26;PC=0.761;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1867-15dupT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GA:224:153:32:0:1,191,32:12,6299,785:-0.26,0.00,54.96:-0.10,0.00,28.47:-0.17,0.00,26.48:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,53:99.0,3.9,182.8:0,0,0:0,0,0:54,88,57:59,59,93:0,34,14:-,chr2 g.96593048_96593049insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96593057 rs78433315 TAATC T 60 nt VT=DEL;SST=Single;DP=225;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.009;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1867-27_1867-24delGATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAATC,T:225:156:0:34:191,34:6073,842:0.00,59.85:0.00,30.86:0.00,28.99:0.00,1.00:0.00,1.00:0.00,1.00:60,53:4.6,194.8:0,0:0,0:88,72:57,75:37,17:-,chr2 g.96593058_96593061delAATC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96593100 rs112413192 G A 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=223;DB;DBA=NA;PAF=NA;PC=0.210;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1866+29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:223:149:0:0:21,202:648,6727:44.78,0.00:15.72,0.00:29.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:183.0,17.7:0,0:0,0:105,70:46,78:17,36:chr2 g.96593099G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593108 rs113130326 T G 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=223;DB;DBA=NA;PAF=NA;PC=0.016;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1866+21A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:223:137:0:0:32,191:1076,6034:83.13,0.00:28.08,0.00:55.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:169.9,7.3:0,0:0,0:105,65:43,80:16,34:chr2 g.96593107T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593118 rs372163659 T A 72 nt VT=SNV;PN=G;NN=C;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=3;PC=0.007;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1866+11A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:226:143:0:0:31,195:966,6077:72.26,0.00:23.19,0.00:49.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:167.1,7.8:0,0:0,0:113,65:35,83:14,29:chr2 g.96593117T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593158 . C . . NT END=96594819;NT GT ./. 2 96593257 rs76305218 T C 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=280;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:109:26:0:0:2,17,90:22,440,2691:-0.30,31.85,0.00:-0.13,5.15,0.00:-0.17,26.70,0.00:0.00,1.00,0.00:0.00,0.96,0.00:0.00,1.00,0.00:37,51,60:71.0,121.7,13.2:0,0,0:0,0,0:2,8,107:147,142,43:2,7,27:chr2 g.96593256T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593280 rs77390827 T C 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=1063;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:110:5:0:0:2,38,70:31,991,2129:0.50,86.72,0.00:-0.02,3.15,0.00:0.52,83.57,0.00:0.00,1.00,0.00:0.00,0.87,0.00:0.00,1.00,0.00:12,51,60:81.5,85.1,17.1:0,0,0:0,0,0:16,19,97:132,129,54:7,11,37:chr2 g.96593279T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593307 rs75333649 C A 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;NP=143;PC=0.028;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-150G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:A,C:107:1:0:0:10,97:278,2435:18.35,0.00:-0.04,0.00:18.39,0.00:0.98,0.00:0.40,0.00:1.00,0.00:60,60:86.1,43.6:0,0:0,0:27,55:120,94:6,24:chr2 g.96593306C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593340 rs77793306 C G 186 nt VT=SNV;PN=G;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=1364;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-183G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:93:2:0:0:36,55,2:1061,1865,22:0.00,186.26,0.14:0.00,3.87,0.00:0.00,182.39,0.14:0.00,1.00,0.00:0.00,0.86,0.00:0.00,1.00,0.00:60,57,12:17.6,77.7,81.5:0,0,0:0,0,0:99,68,57:51,82,86:25,15,3:-,chr2 g.96593339C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96593431 rs367671659 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=193;PC=0.013;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-274A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:C,T:34:1:0:0:3,31:99,973:6.93,0.00:-0.02,0.00:6.95,0.00:0.40,0.00:0.39,0.00:0.40,0.00:40,60:117.7,58.8:0,0:0,0:112,114:39,37:6,28:chr2 g.96593430T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593436 rs62153706 C T 68 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1125;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-279G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:1:0:0:8,20:231,660:0.00,68.27:0.00,1.97:0.00,66.31:0.00,1.00:0.00,0.81:0.00,1.00:60,60:31.4,81.0:0,0:0,0:76,101:74,50:43,16:-,chr2 g.96593435C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96593439 rs200586756 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=146;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-282C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:26:1:0:0:4,22:134,684:10.46,0.00:1.53,0.00:8.93,0.00:0.67,0.00:0.44,0.00:0.67,0.00:42,60:93.0,62.4:0,0:0,0:99,98:51,52:3,26:chr2 g.96593438G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96593469 rs74598362 C A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=100;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1838-312G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,C:18:1:0:0:4,14:104,449:8.17,0.00:-0.05,0.00:8.23,0.00:0.73,0.00:0.48,0.00:0.73,0.00:60,60:123.5,60.8:0,0:0,0:119,125:31,25:4,9:chr2 g.96593468C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594433 rs76650207 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+387C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:4:4:0:0:3,1:79,30:8.31,0.00:8.31,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:42,60:207.7,0.0:0,0:0,0:66,2:85,149:17,0:chr2 g.96594432G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594442 rs72931794 T G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+378A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:G,T:5:5:0:0:4,1:113,32:12.08,0.00:12.08,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:42,60:207.0,0.0:0,0:0,0:64,11:86,140:19,0:chr2 g.96594441T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594516 rs200908701 G A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=9;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+304C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:9:9:0:0:6,3:170,99:17.34,0.00:17.34,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:42,60:204.7,0.0:0,0:0,0:56,30:94,120:35,6:chr2 g.96594515G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594532 rs77662705 A G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=11;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+288T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:9:9:0:0:4,5:132,119:0.00,11.55:0.00,11.55:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,42:0.0,196.6:0,0:0,0:43,50:106,101:15,19:-,chr2 g.96594531A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594560 rs75021278 G T 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+260C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:G,T:16:16:0:0:9,7:288,183:0.00,16.82:0.00,16.82:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,27:0.0,182.4:0,0:0,0:26,59:125,88:17,30:-,chr2 g.96594559G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594581 rs78273429 T G 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=4;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+239A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:23:0:0:11,12:289,375:27.16,0.00:25.28,0.00:1.88,0.00:1.00,0.00:1.00,0.00:0.65,0.00:50,60:170.7,0.0:0,0:0,0:48,41:103,109:43,29:chr2 g.96594580T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594626 rs72492175 C T 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=24;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:42:41:0:0:21,2,19:714,24,546:0.00,0.54,51.54:0.00,0.54,46.24:0.00,0.00,5.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.75:60,18,50:4.0,205.5,180.1:0,0,0:0,0,0:46,84,40:105,49,105:29,59,18:-,chr2 g.96594625C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594648 rs75444333 A G 81 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=293;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+172T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:58:0:0:28,31:896,839:0.00,80.74:0.00,73.15:0.00,7.60:0.00,1.00:0.00,1.00:0.00,0.90:60,51:6.9,212.9:0,0:0,0:40,35:111,115:24,26:-,chr2 g.96594647A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594697 rs72931795 G C 112 nt VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=1326;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+123C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:81:79:0:0:3,37,40,1:56,1177,1312,8:2.30,112.14,0.00,-0.14:2.31,103.98,0.00,-0.14:-0.01,8.16,0.00,-0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.95,0.00,0.00:25,51,60,27:217.0,237.8,9.0,250.0:0,0,0,0:0,0,0,0:96,57,55,93:25,94,95,58:1,13,30,0:chr2 g.96594696G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594723 rs78476446 A G 104 nt VT=SNV;PN=C;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=106;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+97T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:91:0:0:54,39:1776,1132:0.00,104.29:0.00,97.20:0.00,7.09:0.00,1.00:0.00,1.00:0.00,0.95:60,51:8.9,243.1:0,0:0,0:60,83:90,68:36,23:-,chr2 g.96594722A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594735 rs75927751 C T 94 nt VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=3;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+85G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:98:93:0:0:63,35:2047,1051:0.00,94.03:0.00,86.41:0.00,7.63:0.00,1.00:0.00,1.00:0.00,0.98:60,51:7.8,252.8:0,0:0,0:58,90:92,59:39,16:-,chr2 g.96594734C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594742 rs75729585 C T 100 nt VT=SNV;PN=C;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+78G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:104:99:0:0:68,36:2121,1119:0.00,99.93:0.00,92.31:0.00,7.63:0.00,1.00:0.00,1.00:0.00,0.98:60,51:7.8,256.5:0,0:0,0:57,94:94,56:39,20:-,chr2 g.96594741C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594759 rs75830348 G A 88 nt VT=SNV;PN=G;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:112:106:0:0:35,1,76:1012,10,2340:87.84,-0.21,0.00:82.02,-0.16,0.00:5.82,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,60,60:260.0,79.0,6.9:0,0,0:0,0,0:109,37,51:40,113,100:21,0,35:chr2 g.96594758G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594767 rs76282476 A C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+53T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:115:107:0:0:83,25,7:2663,760,205:0.00,62.54,13.10:0.00,58.60,13.50:0.00,3.95,-0.40:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,51,51:11.3,261.8,268.6:0,0,0:0,0,0:38,118,116:111,32,32:26,19,24:-,chr2 g.96594766A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594777 rs78943121 C T 107 nt VT=SNV;PN=C;NN=A;SST=Single;DP=127;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+43G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:127:117:0:0:89,38:2814,1224:0.00,106.90:0.00,98.51:0.00,8.39:0.00,1.00:0.00,1.00:0.00,1.00:60,51:7.0,263.9:0,0:0,0:44,114:104,37:26,26:-,chr2 g.96594776C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594791 rs79976205 A G 67 nt VT=SNV;PN=C;NN=T;SST=Single;DP=136;DB;DBA=NA;PAF=NA;PC=0.014;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:136:120:0:0:101,35:3280,835:0.00,66.51:0.00,58.24:0.00,8.28:0.00,1.00:0.00,1.00:0.00,1.00:60,42:7.5,267.3:0,0:0,0:49,91:98,60:30,51:-,chr2 g.96594790A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594802 rs76998771 A T 102 nt VT=SNV;PN=A;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1837+18T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:148:127:0:0:107,41:3464,1203:0.00,101.94:0.00,79.12:0.00,22.82:0.00,1.00:0.00,1.00:0.00,1.00:60,40:7.6,262.9:0,0:0,0:45,25:105,118:26,17:-,chr2 g.96594801A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594840 rs76434426 T C 177 lc VT=SNV;PN=C;NN=C;SST=Single;DP=209;DB;DBA=NA;PAF=NA;NP=6;PC=0.017;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1817A>G;ProtCh=p.E606G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:209:171:0:1:71,138:2018,4609:177.44,0.00:139.72,0.00:37.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:260.2,8.0:0,0:0,0:37,58:113,85:16,32:chr2 g.96594839T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594858 rs80159651 A G 250 lc VT=SNV;PN=T;NN=T;SST=Single;DP=239;DB;DBA=NA;PAF=NA;NP=12;NP=4;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1799T>C;ProtCh=p.I600T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:239:191:0:0:151,88:4821,2766:0.00,250.28:0.00,199.65:0.00,50.63:0.00,1.00:0.00,1.00:0.00,1.00:60,40:8.5,262.4:0,0:0,0:61,43:83,106:30,21:-,chr2 g.96594857A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594874 rs79434735 C A 281 lc VT=SNV;PN=T;NN=T;SST=Single;DP=259;DB;DBA=NA;PAF=NA;PC=0.120;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1783G>T;ProtCh=p.D595Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:259:204:0:0:100,158,1:3077,5313,14:280.51,0.00,-0.17:230.13,0.00,-0.17:50.37,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,60,41:254.6,5.6,14.0:0,0,0:0,0,0:55,62,2:95,84,149:25,30,0:chr2 g.96594873C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594878 rs375866621 G C 284 lc VT=SNV;PN=T;NN=T;SST=Single;DP=261;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1779C>G;ProtCh=p.D593E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:261:200:0:0:95,165,1:3125,5403,10:283.72,0.00,-0.24:233.64,0.00,-0.12:50.08,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,60,25:258.5,6.1,296.0:0,0,0:0,0,0:57,67,127:93,80,24:23,34,0:chr2 g.96594877G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594881 rs111499669 G A 280 lc VT=SNV;PN=C;NN=T;SST=Single;DP=261;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1776C>T;ProtCh=p.D592=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:261:199:0:0:95,165,1:3082,5089,22:279.50,0.00,0.17:233.34,0.00,0.29:46.16,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,55,52:258.8,6.0,115.0:0,0,0:0,0,0:62,62,109:89,87,28:25,33,0:chr2 g.96594880G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594883 rs111462973 C T 270 lc VT=SNV;PN=T;NN=A;SST=Single;DP=265;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1774G>A;ProtCh=p.D592N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:265:203:0:0:166,2,97:5400,20,2989:0.00,-0.41,269.94:0.00,-0.18,224.47:0.00,-0.24,45.48:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:55,52,40:6.3,171.5,254.1:0,0,0:0,0,0:66,91,62:80,59,88:34,10,24:-,chr2 g.96594882C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594893 . C . . NT END=96594986;NT GT ./. 2 96594906 rs141793716 G GA 409 nt VT=INS;SST=Single;DP=357;DB;DBA=NA;PAF=NA;NP=6;PC=0.061;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1765-15dupT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GA:357:264:175:0:6,174,2,175:101,5691,23,4342:3.30,0.00,-0.27,409.43:-0.45,0.00,-0.07,327.35:3.75,0.00,-0.20,82.08:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:52,52,50,43:173.3,10.3,11.5,188.1:4,2,0,0:0,0,0,0:92,74,76,41:54,76,74,101:31,35,73,26:-,chr2 g.96594906_96594907insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594915 rs367944682 TAATC T 442 nt VT=DEL;SST=Single;DP=367;DB;DBA=NA;PAF=NA;NP=9;PC=0.019;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1765-27_1765-24delGATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAATC,T:367:271:0:185:183,184:5640,4674:0.00,441.75:0.00,347.66:0.00,94.09:0.00,1.00:0.00,1.00:0.00,1.00:52,43:20.4,179.6:0,0:0,0:83,46:67,97:36,25:-,chr2 g.96594916_96594919delAATC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96594924 rs199914667 T C 580 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=363;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1765-32A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:363:264:0:1:2,192,169:21,5973,5382:-0.30,579.98,0.00:-0.18,440.35,0.00:-0.12,139.64,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,43,52:166.0,179.6,7.5:1,184,0:0,0,0:61,50,72:90,94,79:34,25,34:chr2 g.96594923T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594958 rs1988084 G A 557 nt VT=SNV;PN=A;NN=T;SST=Single;DP=469;DB;DBA=NA;PAF=NA;NP=87;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1764+29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:469:335:0:0:189,2,276,2:6034,20,9058,23:557.06,-0.39,0.00,-0.36:370.90,-0.26,0.00,-0.14:186.15,-0.13,0.00,-0.22:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,42,43,40:149.0,50.5,48.1,135.0:0,0,0,0:0,0,0,0:58,59,62,112:88,78,87,39:28,0,36,35:chr2 g.96594957G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96594966 rs62153708 T G 1009 nt VT=SNV;PN=A;NN=A;SST=Single;DP=475;DB;DBA=NA;PAF=NA;NP=693;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1764+21A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:475:341:0:0:1,303,171:22,9990,5307:0.14,1009.01,0.00:-0.07,653.90,0.00:0.21,355.12,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:13,43,43:59.0,129.7,9.6:0,0,0:0,0,0:34,56,73:116,90,74:0,28,34:chr2 g.96594965T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96595016 . C . . NT END=96601201;NT GT ./. 2 96595032 rs62153723 A T 1097 nt VT=SNV;PN=G;NN=T;SST=Single;DP=492;DB;DBA=NA;PAF=NA;NP=2748;PC=0.459;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-17T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:492:290:0:0:149,2,1,340:4785,23,9,10662:0.00,-0.13,-0.11,1097.46:0.00,-0.10,-0.03,463.30:0.00,-0.03,-0.08,634.17:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:43,40,42,44:7.7,70.5,59.0,92.1:0,0,0,0:0,0,0,0:91,27,66,80:56,123,85,65:31,20,0,30:-,chr2 g.96595031A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595037 rs370233849 TAATC T 78 nt VT=DEL;SST=Single;DP=492;DB;DBA=NA;PAF=NA;NP=400;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-26_1736-23delGATT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,TAATC,T:492:277:0:44:1,447,44:10,14194,1209:-0.37,0.00,78.34:-0.13,0.00,28.05:-0.23,0.00,50.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:25,43,44:105.0,66.8,78.5:0,0,0:0,0,0:87,95,98:63,53,48:0,28,25:-,chr2 g.96595038_96595041delAATC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595110 rs62153724 G A 645 nt VT=SNV;PN=T;NN=T;SST=Single;DP=283;DB;DBA=NA;PAF=NA;NP=844;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-95C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:283:69:0:0:198,1,83,1:6248,13,2626,13:645.10,-0.06,0.00,-0.06:87.50,0.06,0.00,-0.02:557.60,-0.12,0.00,-0.03:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:43,43,43,43:71.6,86.0,6.5,168.0:0,0,0,0:0,0,0,0:105,128,103,149:44,20,47,1:28,0,26,0:chr2 g.96595109G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96595198 rs1620312 G T 153 nt VT=SNV;PN=G;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=292;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-183C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:112:0:0:0:61,51:2000,1620:0.00,152.77:0.00,0.00:0.00,152.77:0.00,1.00:0.00,0.00:0.00,1.00:42,40:33.2,119.6:0,0:0,0:108,102:43,48:26,26:-,chr2 g.96595197G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595221 rs62153725 C T 155 nt VT=SNV;PN=A;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=238;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-206G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:0:0:0:28,50:905,1535:0.00,155.18:0.00,0.00:0.00,155.18:0.00,1.00:0.00,0.00:0.00,1.00:42,40:4.5,128.4:0,0:0,0:102,111:47,39:29,14:-,chr2 g.96595220C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595245 rs62153726 G A 118 nt VT=SNV;PN=T;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=9;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-230C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:0:0:0:39,22:1172,724:118.41,0.00:0.00,0.00:118.41,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,52:146.6,4.4:0,0:0,0:127,98:23,52:9,30:chr2 g.96595244G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96595264 rs201668395 A G 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-249T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:0:0:0:25,18:730,549:0.00,50.78:0.00,0.00:0.00,50.78:0.00,1.00:0.00,0.00:0.00,1.00:52,43:53.5,175.9:0,0:0,0:108,140:42,11:34,8:-,chr2 g.96595263A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595271 rs116100004 G A 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=24;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-256C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:0:0:0:20,15:587,517:57.83,0.00:0.00,0.00:57.83,0.00:1.00,0.00:0.00,0.00:1.00,0.00:43,52:180.9,0.0:0,0:0,0:96,115:54,35:51,14:chr2 g.96595270G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96595277 rs202051249 A G 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=3;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-262T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:0:0:0:20,9:584,288:0.00,25.30:0.00,0.00:0.00,25.30:0.00,0.99:0.00,0.00:0.00,0.99:52,43:45.7,210.7:0,0:0,0:105,93:46,58:27,46:-,chr2 g.96595276A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595286 rs375021303 A C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.9938,G/0.00619;NP=4;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-271T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C:27:0:0:0:23,4:701,108:0.00,7.83:0.00,0.00:0.00,7.83:0.00,0.66:0.00,0.00:0.00,0.66:52,40:73.0,233.0:0,0:0,0:110,81:41,67:24,23:-,chr2 g.96595285A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595310 rs62153727 A T 37 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=224;PC=0.062;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-295T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:19:0:0:0:7,1,11:222,8,365:0.00,0.09,36.51:0.00,0.00,0.00:0.00,0.09,36.51:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:52,40,50:0.0,156.0,186.7:0,0,0:0,0,0:112,93,72:39,53,78:22,0,31:-,chr2 g.96595309A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595340 rs62153728 C T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=146;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-325G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,C,T:13:0:0:0:1,8,4:9,245,133:0.13,0.00,11.89:0.00,0.00,0.00:0.13,0.00,11.89:0.00,0.00,0.79:0.00,0.00,0.00:0.00,0.00,0.79:40,52,50:156.0,72.8,208.0:0,0,0:0,0,0:123,100,89:23,50,60:0,23,29:-,chr2 g.96595339C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96595392 rs62153729 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=285;PC=0.009;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1736-377T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:50:145.2:0:0:129:21:6:chr2 g.96595391A>G (intergenic),chr2 g.96595391A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96600925 rs79081695 T C 10 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=562;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1735+277A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:5:5:0:0:3,2:105,61:10.47,0.00:10.47,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:3,57:136.7,11.0:0,0:0,0:93,3:57,147:14,3:chr2 g.96600924T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601109 rs112036065 C T 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.721,T/0.279;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1735+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:24:0:0:15,10:484,294:0.00,26.86:0.00,23.99:0.00,2.87:0.00,1.00:0.00,1.00:0.00,0.70:54,42:56.7,111.9:0,0:0,0:32,25:119,122:26,25:-,chr2 g.96601108C>T (intergenic):-,0.32:-,NOT_FOUND 2 96601123 rs73958150 G A 90 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=20;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1735+79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:48:0:0:29,20:902,685:89.61,0.00:90.20,0.00:-0.58,0.00:1.00,0.00:1.00,0.00:0.86,0.00:43,54:178.6,12.0:0,0:0,0:12,72:138,78:5,50:chr2 g.96601122G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601137 rs75682170 G A 133 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=24;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1735+65C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:60:0:0:40,21:1314,686:133.42,0.00:134.58,0.00:-1.16,0.00:1.00,0.00:1.00,0.00:0.99,0.00:43,54:168.1,10.0:0,0:0,0:21,34:128,117:7,26:chr2 g.96601136G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601139 . T C 95 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1735+63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:62:0:0:31,32:989,1059:94.74,0.00:95.48,0.00:-0.74,0.00:1.00,0.00:1.00,0.00:0.93,0.00:27,54:173.7,54.3:0,0:0,0:23,34:128,116:7,22:chr2 g.96601138T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601153 rs202028585 G A 195 nt VT=SNV;PN=A;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=31;PC=0.007;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1735+49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:77:0:0:59,21:1867,700:194.88,0.00:191.29,0.00:3.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,54:141.7,10.0:0,0:0,0:26,50:124,98:15,26:chr2 g.96601152G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601160 . C T 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=89;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1735+42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:85:0:0:71,18:2223,573:0.00,46.45:0.00,43.90:0.00,2.54:0.00,1.00:0.00,1.00:0.00,0.82:54,50:91.1,135.5:0,0:0,0:37,21:113,128:16,11:-,chr2 g.96601159C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601240 rs62153752 G A 586 lc VT=SNV;PN=T;NN=C;SST=Single;DP=238;DB;DBA=NA;PAF=NA;NP=430;PC=0.006;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1697C>T;ProtCh=p.A566V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:238:213:0:0:183,55:5551,1870:585.97,0.00:440.62,0.00:145.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,43:92.0,4.3:0,0:0,0:53,52:96,99:26,28:chr2 g.96601239G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601275 . C . . NT END=96601363;NT GT ./. 2 96601296 rs145876416 A ATGATTAAT 313 nt VT=INS;SST=Single;DP=275;DB;DBA=NA;PAF=NA;PC=0.990;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1663-30_1663-23dupATTAATCA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATGATTAAT:275:205:139:0:136,139:4420,3344:0.00,313.06:0.00,171.07:0.00,142.00:0.00,1.00:0.00,1.00:0.00,1.00:45,50:46.0,81.6:48,0:0,0:87,73:58,77:33,28:-,chr2 g.96601296_96601297insTGATTAAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601300 . T TTAATTGAG 72 nt VT=INS;SST=Single;DP=303;PC=0.991;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1663-27_1663-26insCTCAATTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TTAATTGAG:303:217:44:0:2,257,44:59,8223,1040:1.81,0.00,72.32:0.86,0.00,49.82:0.95,0.00,22.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,52,43:135.5,60.0,97.3:0,4,0:0,0,0:1,84,71:149,65,79:0,35,30:-,chr2 g.96601300_96601301insTAATTGAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601312 rs62153753 G A 459 nt VT=SNV;PN=T;NN=T;SST=Single;DP=306;DB;DBA=NA;PAF=NA;NP=47;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1663-38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:306:190:0:1:148,158:4800,5224:458.54,0.00:209.89,0.00:248.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,52:97.7,46.3:0,0:0,0:71,80:79,69:36,38:chr2 g.96601311G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601345 rs74453630 T C 552 nt VT=SNV;PN=A;NN=G;SST=Single;DP=284;DB;DBA=NA;PAF=NA;NP=281;NP=290;PC=0.313;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1662+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:284:148:0:0:173,44,67:5345,1447,2097:552.17,125.21,0.00:246.73,37.04,0.00:305.44,88.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,52,45:98.5,78.0,10.2:0,0,0:0,0,0:86,90,74:64,57,75:32,28,38:chr2 g.96601344T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601364 rs62153754 C T 713 lc VT=SNV;PN=C;NN=G;SST=Single;DP=266;DB;DBA=NA;PAF=NA;NP=716;PC=0.895;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1662G>A;ProtCh=p.T554=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:266:129:0:0:62,1,203:1770,10,6786:0.00,-0.06,713.00:0.00,0.00,279.45:0.00,-0.06,433.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:45,44,52:7.2,189.0,96.1:0,0,0:0,0,0:78,70,89:69,69,56:42,0,24:-,chr2 g.96601363C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601393 . C . . NT END=96604576;NT GT ./. 2 96601469 rs200965189 C A 102 nt VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=2;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-77G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:67:39:0:0:34,32,1:1060,1033,10:102.35,0.00,-0.07:62.49,0.00,-0.09:39.85,0.00,0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,55,27:136.4,6.9,44.0:0,0,0:0,0,0:107,108,128:44,42,-9:27,14,0:chr2 g.96601468C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601489 . G A 94 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:30:0:0:32,28:971,931:94.31,0.00:39.16,0.00:55.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,55:158.8,7.9:0,0:0,0:34,124:116,27:22,9:chr2 g.96601488G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601491 . A G 94 nt VT=SNV;PN=G;NN=A;SST=Single;DP=61;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:61:29:0:0:28,33:916,971:0.00,94.47:0.00,33.08:0.00,61.39:0.00,1.00:0.00,1.00:0.00,1.00:55,50:8.5,161.1:0,0:0,0:125,35:26,116:10,21:-,chr2 g.96601490A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601507 . T A 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=59;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-115A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:59:20:0:0:8,51:222,1579:15.91,0.00:1.42,0.00:14.48,0.00:0.95,0.00:0.88,0.00:1.00,0.00:45,55:189.8,81.9:0,0:0,0:28,58:122,93:11,39:chr2 g.96601506T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601513 rs79147644 C T 90 nt VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-121G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:9:0:0:22,32:686,910:0.00,90.26:0.00,6.95:0.00,83.31:0.00,1.00:0.00,1.00:0.00,1.00:55,50:8.5,164.5:0,0:0,0:102,40:48,111:36,17:-,chr2 g.96601512C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601547 rs76106066 A T 112 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-155T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:53:0:0:0:17,36:583,1092:0.00,111.85:0.00,0.00:0.00,111.85:0.00,1.00:0.00,0.00:0.00,1.00:55,50:7.3,165.2:0,35:0,0:67,69:84,81:42,21:-,chr2 g.96601546A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601550 rs369127664 AAGGACCAAAT A 72 nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=26;PC=0.040;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-168_1634-159delATTTGGTCCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAGGACCAAAT,A:53:0:0:35:18,35:554,726:0.00,72.40:0.00,0.00:0.00,72.40:0.00,1.00:0.00,0.00:0.00,1.00:55,50:15.0,165.7:0,0:0,0:68,73:82,78:40,20:-,chr2 g.96601551_96601560delAGGACCAAAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601571 rs79826646 A G 107 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=39;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:58:0:0:0:23,1,34:705,13,1079:0.00,0.12,107.39:0.00,0.00,0.00:0.00,0.12,107.39:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:55,27,50:55.0,128.0,168.2:7,0,29:0,0,0:88,7,74:63,144,76:23,0,18:-,chr2 g.96601570A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601619 rs199748403 GA G 93 nt VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=56;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-228delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:50:1:0:35:15,35:455,899:0.00,92.86:0.00,1.81:0.00,91.05:0.00,1.00:0.00,0.80:0.00,1.00:51,50:43.1,155.6:0,0:0,0:101,107:49,43:34,25:-,chr2 g.96601620delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601647 rs2340192 T C 90 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=121;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-255A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:1:0:0:27,9:862,287:90.23,0.00:3.85,0.00:86.38,0.00:1.00,0.00:0.83,0.00:1.00,0.00:41,51:149.4,26.2:0,0:0,0:113,106:38,45:24,23:chr2 g.96601646T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96601663 rs2340191 C T 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.052;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-271G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:1:0:0:7,20:236,628:0.00,65.59:0.00,3.75:0.00,61.84:0.00,1.00:0.00,0.83:0.00,1.00:51,43:12.4,149.2:0,0:0,0:122,110:29,41:23,18:-,chr2 g.96601662C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601666 rs202225223 C G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.052;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-274G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:1:0:0:16,9:496,256:0.00,22.78:0.00,3.33:0.00,19.45:0.00,1.00:0.00,0.57:0.00,1.00:51,40:77.4,166.1:0,0:0,0:114,107:33,41:23,17:-,chr2 g.96601665C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601703 rs200433253 A G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=52;PC=0.009;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-311T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,G:14:1:0:0:6,8:184,233:0.00,22.94:0.00,3.83:0.00,19.10:0.00,1.00:0.00,0.71:0.00,1.00:51,27:65.0,168.8:0,0:0,0:121,125:30,25:14,21:-,chr2 g.96601702A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601716 rs201090230 C G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=150;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-324G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,G:10:1:0:0:3,7:98,224:0.00,23.08:0.00,3.92:0.00,19.16:0.00,1.00:0.00,0.80:0.00,1.00:51,40:11.0,158.4:0,0:0,0:133,104:18,47:2,36:-,chr2 g.96601715C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96601725 rs72933812 A C 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=189;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1634-333T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C:9:1:0:0:3,6:71,175:0.00,17.90:0.00,2.80:0.00,15.10:0.00,0.99:0.00,0.78:0.00,1.00:51,27:11.0,167.5:0,0:0,0:142,106:9,44:2,39:-,chr2 g.96601724A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604333 rs370849007 C A 11 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+244G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,C,T:11:11:0:0:4,6,1:125,198,10:11.47,0.00,0.28:11.47,0.00,0.28:0.00,0.00,0.00:0.82,0.00,0.00:0.82,0.00,0.00:0.00,0.00,0.00:40,60,60:217.0,18.5,77.0:0,0,0:0,0,0:4,18,124:146,132,24:2,14,0:chr2 g.96604332C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604345 rs200381926 T C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+232A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:13:13:0:0:5,8:169,238:15.53,0.00:15.53,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:40,60:215.2,25.1:0,0:0,0:15,30:135,120:2,17:chr2 g.96604344T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604347 rs201195012 A G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+230T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:15:0:0:9,6:285,202:0.00,18.68:0.00,18.68:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,42:22.3,201.8:0,0:0,0:29,16:122,134:21,4:-,chr2 g.96604346A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604390 rs151015608 C T 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=61;PC=0.008;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:27:0:0:11,16:355,536:0.00,53.31:0.00,53.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,51:15.8,162.1:0,0:0,0:58,42:93,108:21,13:-,chr2 g.96604389C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604391 rs145784647 A G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=53;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+186T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:28:0:0:12,16:357,527:0.00,52.02:0.00,52.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,51:14.5,162.1:0,0:0,0:55,43:96,107:26,13:-,chr2 g.96604390A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604420 rs74931694 A T 102 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=521;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+157T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:46:46:0:0:15,31:477,994:0.00,101.57:0.00,101.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.8,128.0:0,0:0,0:57,45:93,106:31,29:-,chr2 g.96604419A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604473 rs75003856 T A 53 nt VT=SNV;PN=A;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=382;PC=0.008;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+104A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:84:84:0:0:19,1,64:631,34,2021:52.78,1.63,0.00:51.27,1.63,0.00:1.51,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.50,0.00,0.00:57,52,60:104.8,104.0,67.5:0,0,0:0,0,0:43,24,58:108,127,92:19,0,32:chr2 g.96604472T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604516 rs62154560 C T 299 nt VT=SNV;PN=A;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=6;NP=941;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:124:116:0:0:8,27,89:261,804,2847:19.60,0.00,299.48:17.11,0.00,265.38:2.49,0.00,34.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,57:65.0,15.3,101.1:0,0,0:0,0,0:51,52,39:99,99,108:27,34,28:-,chr2 g.96604515C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604548 . T C 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=198;NP=7;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1633+29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:C,T:198:174:0:0:16,182:486,6142:32.25,0.00:29.25,0.00:3.00,0.00:1.00,0.00:1.00,0.00:0.97,0.00:56,60:149.3,79.3:0,0:0,0:43,41:107,109:31,26:chr2 g.96604547T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604591 rs62154561 A G 627 lc VT=SNV;PN=T;NN=G;SST=Single;DP=240;DB;DBA=NA;PAF=NA;NP=1001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1619T>C;ProtCh=p.L540P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:240:185:0:0:56,180,4:1799,5976,41:0.00,627.17,0.32:0.00,358.73,-0.08:0.00,268.44,0.40:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,51:7.3,108.2,126.5:0,0,0:0,0,0:46,64,51:98,84,99:30,19,29:-,chr2 g.96604590A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604606 rs80350011 C A 77 lc VT=SNV;PN=T;NN=C;SST=Single;DP=240;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1604G>T;ProtCh=p.G535V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:240:176:0:0:33,206,1:1027,6802,9:76.85,0.00,-0.33:46.13,0.00,-0.16:30.72,0.00,-0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:56,60,50:142.5,76.0,83.0:0,0,0:0,0,0:66,73,119:77,74,25:14,24,0:chr2 g.96604605C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604632 rs62154562 A T 620 lc VT=SNV;PN=C;NN=C;SST=Single;DP=242;DB;DBA=NA;PAF=NA;NP=959;PC=0.036;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1578T>A;ProtCh=p.S526R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:242:163:0:0:64,1,177:2089,9,5967:0.00,-0.08,620.41:0.00,-0.06,294.30:0.00,-0.01,326.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,17,60:5.4,80.0,111.8:0,0,0:0,0,0:65,115,97:77,36,52:30,0,19:-,chr2 g.96604631A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604650 . C . . NT END=96604734;NT GT ./. 2 96604675 rs75415330 T C 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=208;DB;DBA=NA;PAF=NA;NP=3;PC=0.433;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1561-26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:208:113:0:0:25,1,182:751,13,5582:54.13,-0.29,0.00:21.19,-0.05,0.00:32.94,-0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,44,60:162.3,37.0,77.6:0,0,0:0,0,0:129,71,111:20,80,37:13,0,24:chr2 g.96604674T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604679 rs62154563 C T 370 nt VT=SNV;PN=A;NN=A;SST=Single;DP=192;DB;DBA=NA;PAF=NA;NP=168;PC=0.297;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1561-30G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:192:96:0:0:60,14,118:2029,448,3638:0.00,33.69,370.09:0.00,10.33,93.28:0.00,23.37,276.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,52:5.6,153.5,124.0:0,0,0:0,0,0:85,114,122:63,36,29:27,22,16:-,chr2 g.96604678C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604730 rs113311459 T C 241 nt VT=SNV;PN=G;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=NA;NP=447;PC=0.674;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1560+5A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:138:49:0:0:78,60:2453,1845:241.39,0.00:29.67,0.00:211.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,51:165.2,9.2:0,0:0,0:87,58:63,92:48,29:chr2 g.96604729T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604764 . C . . NT END=96606907;NT GT ./. 2 96604767 rs200143756 C A 104 nt VT=SNV;PN=A;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=NA;NP=2;PC=0.996;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-4G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:125:57:0:0:39,85,1:1191,2693,18:104.18,0.00,0.10:31.86,0.00,0.25:72.32,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,42,40:204.4,44.1,18.0:0,0,0:0,0,0:69,71,29:82,80,122:29,28,0:chr2 g.96604766C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604771 rs201267012 G A 162 nt VT=SNV;PN=A;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=65;PC=0.983;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-8C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:126:57:0:0:57,69:1730,2262:162.46,0.00:45.69,0.00:116.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,42:191.8,13.0:0,0:0,0:75,72:76,78:29,31:chr2 g.96604770G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604785 rs201789317 T A 182 nt VT=SNV;PN=A;NN=A;SST=Single;DP=131;DB;DBA=NA;PAF=NA;NP=4;PC=0.065;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-22A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:131:62:0:0:63,1,67:1907,10,2127:181.58,-0.15,0.00:57.07,-0.13,0.00:124.51,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,27,42:195.8,67.0,11.9:0,0,0:0,0,0:71,79,84:79,71,67:38,0,32:chr2 g.96604784T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604799 rs200229515 T G 172 nt VT=SNV;PN=G;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=NA;NP=222;PC=0.017;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-36A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:133:63:0:0:1,59,73:11,1829,2208:-0.15,171.59,0.00:-0.12,60.42,0.00:-0.03,111.17,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,40,42:170.0,194.3,26.1:0,0,0:0,0,0:19,80,82:128,71,69:0,43,27:chr2 g.96604798T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604810 rs111874267 C T 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=86;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-47G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:134:66:0:0:88,46:2873,1448:0.00,129.33:0.00,61.82:0.00,67.51:0.00,1.00:0.00,1.00:0.00,1.00:43,40:54.2,199.4:0,0:0,0:74,83:75,67:39,41:-,chr2 g.96604809C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96604858 rs201867826 G C 221 nt VT=SNV;PN=T;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=NA;NP=33;PC=0.018;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-95C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:135:78:0:0:73,61,1:2262,2089,10:220.80,0.00,-0.11:137.04,0.00,-0.09:83.77,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,51,40:157.9,2.8,108.0:0,0,0:0,0,0:66,72,125:80,76,26:40,42,0:chr2 g.96604857G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604897 rs200460066 T C 230 nt VT=SNV;PN=G;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=NA;NP=44;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:138:77:0:0:75,63:2358,1894:230.04,0.00:163.71,0.00:66.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,51:126.1,8.0:0,1:0,0:63,66:87,82:38,31:chr2 g.96604896T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604917 rs62154564 G A 274 nt VT=SNV;PN=A;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=NA;NP=644;PC=0.013;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-154C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:152:83:0:0:90,61,1:2749,2042,10:273.54,0.00,-0.11:170.39,0.00,0.02:103.14,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,51,39:117.0,3.7,180.0:0,0,0:0,0,0:61,84,123:87,66,3:41,32,0:chr2 g.96604916G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96604940 rs76669139 A T 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=160;DB;DBA=NA;PAF=NA;NP=85;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-177T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:160:91:0:0:138,22:4148,718:0.00,54.51:0.00,36.42:0.00,18.08:0.00,1.00:0.00,1.00:0.00,1.00:51,51:56.6,117.0:0,0:0,0:70,47:79,104:36,30:-,chr2 g.96604939A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605045 rs62154565 C G 568 nt VT=SNV;PN=C;NN=A;SST=Single;DP=216;DB;DBA=NA;PAF=NA;NP=488;PC=0.072;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-282G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:216:130:0:0:1,47,167,1:13,1518,5377,12:0.00,0.00,568.15,-0.02:0.05,0.00,223.95,0.03:-0.05,0.00,344.20,-0.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:2,49,51,40:90.0,9.0,138.1,121.0:0,0,0,0:0,0,0,0:139,70,71,18:12,81,79,133:0,35,37,0:-,chr2 g.96605044C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605050 rs77363095 T C 276 nt VT=SNV;PN=G;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=NA;NP=236;PC=0.210;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-287A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:213:128:0:0:1,94,118:20,2949,3735:0.14,276.38,0.00:0.27,110.81,0.00:-0.13,165.57,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,51,51:121.0,137.9,84.9:0,0,0:0,0,0:23,81,67:128,67,82:0,34,34:chr2 g.96605049T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605076 rs142666320 G A 476 nt VT=SNV;PN=A;NN=A;SST=Single;DP=186;DB;DBA=NA;PAF=NA;NP=399;PC=0.102;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-313C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,D:186:110:0:1:136,49,1:4577,1622,34:476.11,0.00,1.48:205.19,0.00,1.54:270.92,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,50,39:153.0,11.4,110.0:0,0,0:0,0,0:85,73,62:66,77,89:31,33,0:chr2 g.96605075G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605077 rs138225278 A G 468 nt VT=SNV;PN=G;NN=T;SST=Single;DP=186;DB;DBA=NA;PAF=NA;NP=269;PC=0.089;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-314T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:186:110:0:1:51,135:1644,4511:0.00,467.94:0.00,204.48:0.00,263.46:0.00,1.00:0.00,1.00:0.00,1.00:50,43:14.4,146.7:0,0:0,0:68,95:82,55:34,26:-,chr2 g.96605076A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605086 . A G 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=186;PC=0.008;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-323T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:186:111:0:0:171,15:5402,516:0.00,36.13:0.00,11.42:0.00,24.71:0.00,1.00:0.00,1.00:0.00,1.00:44,43:108.4,143.9:0,0:0,0:89,112:60,39:31,8:-,chr2 g.96605085A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605150 rs142701280 T A 297 nt VT=SNV;PN=G;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=NA;NP=411;PC=0.007;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-387A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:141:62:0:0:90,1,50:2941,9,1604:297.35,-0.10,0.00:86.25,0.00,0.00:211.10,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:56,40,60:169.6,120.0,5.3:0,0,0:0,0,0:113,99,88:37,52,62:18,0,36:chr2 g.96605149T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605165 rs78062568 C T 225 nt VT=SNV;PN=T;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-402G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:50:0:0:55,77:1821,2276:0.00,225.14:0.00,51.89:0.00,173.25:0.00,1.00:0.00,1.00:0.00,1.00:60,56:29.1,173.9:0,0:0,0:79,122:69,27:39,21:-,chr2 g.96605164C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605196 rs77281907 A G 134 nt VT=SNV;PN=T;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=595;PC=0.104;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-433T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:85:26:0:0:40,44,1:1264,1387,13:0.00,134.39,0.01:0.00,29.32,-0.05:0.00,105.07,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,51,40:7.5,162.1,293.0:0,0,0:0,0,0:93,82,5:54,68,146:24,22,0:-,chr2 g.96605195A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605244 rs75071890 G C 72 nt VT=SNV;PN=G;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=102;PC=0.033;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-481C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:67:14:0:0:27,40:784,1277:71.57,0.00:7.27,0.00:64.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:200.3,69.6:0,0:0,0:94,104:55,44:33,31:chr2 g.96605243G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605252 rs72933835 G T 112 nt VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=419;PC=0.020;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-489C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:61:9:0:0:21,40:675,1099:0.00,111.67:0.00,6.72:0.00,104.94:0.00,1.00:0.00,1.00:0.00,1.00:60,56:4.3,197.4:0,0:0,0:104,93:47,47:24,34:-,chr2 g.96605251G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605270 rs76749374 G C 66 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=75;PC=0.019;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-507C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:47:3:0:0:1,28,18:11,668,501:0.07,66.26,0.00:-0.01,0.93,0.00:0.08,65.33,0.00:0.00,1.00,0.00:0.00,0.94,0.00:0.00,1.00,0.00:25,52,60:130.0,219.4,5.7:0,0,0:0,0,0:129,97,107:-3,53,43:0,24,25:chr2 g.96605269G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605281 rs74955869 G A 77 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=14;PC=0.014;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-518C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:43:2:0:0:27,1,15:765,10,504:77.32,0.05,0.00:3.26,-0.01,0.00:74.06,0.06,0.00:1.00,0.00,0.00:0.88,0.00,0.00:1.00,0.00,0.00:52,50,60:219.1,167.0,6.8:0,0,0:0,0,0:110,68,116:39,83,35:22,0,23:chr2 g.96605280G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605304 rs76615869 T G 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-541A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:27:1:0:0:16,11:508,237:50.63,0.00:3.65,0.00:46.98,0.00:1.00,0.00:0.73,0.00:1.00,0.00:52,60:236.6,9.3:0,0:0,0:106,115:45,35:14,24:chr2 g.96605303T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605309 rs77351874 C T 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-546G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:1:0:0:11,15:317,439:0.00,43.31:0.00,1.31:0.00,42.00:0.00,1.00:0.00,0.72:0.00,1.00:60,52:9.3,239.7:0,0:0,0:120,106:30,45:24,12:-,chr2 g.96605308C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605314 rs75735996 G T 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-551C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:1:0:0:10,15:317,427:0.00,42.51:0.00,2.25:0.00,40.26:0.00,1.00:0.00,0.73:0.00,1.00:60,52:10.2,239.7:0,0:0,0:121,111:28,40:28,12:-,chr2 g.96605313G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605325 rs79944768 A C 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-562T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:1:0:0:8,15:265,410:0.00,41.69:0.00,2.39:0.00,39.30:0.00,1.00:0.00,0.77:0.00,1.00:60,52:12.8,235.1:0,0:0,0:115,121:35,30:26,13:-,chr2 g.96605324A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605374 rs151120424 A AC 8 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-612_1532-611insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,AC:8:1:3:0:5,3:135,87:0.00,7.84:0.00,1.48:0.00,6.36:0.00,0.67:0.00,0.58:0.00,0.67:60,50:57.2,232.3:0,0:0,0:131,40:20,109:19,2:-,chr2 g.96605374_96605375insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605375 rs77557835 T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-612A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:C,T:6:0:0:0:3,3:83,92:7.92,0.00:0.00,0.00:7.92,0.00:0.98,0.00:0.00,0.00:0.98,0.00:50,60:211.3,3.7:2,0:0,0:44,132:101,19:2,17:chr2 g.96605374T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605384 rs79631192 T C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-621A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:6:0:0:0:4,2:99,68:10.13,0.00:0.00,0.00:10.13,0.00:0.93,0.00:0.00,0.00:0.93,0.00:50,60:223.2,5.5:0,0:0,0:52,114:95,37:12,27:chr2 g.96605383T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96605391 rs79242733 C G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-628G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,G:6:0:0:0:2,4:58,123:0.00,12.55:0.00,0.00:0.00,12.55:0.00,0.93:0.00,0.00:0.00,0.93:60,50:5.5,223.2:0,0:0,0:121,59:30,88:27,12:-,chr2 g.96605390C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605401 rs77462097 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-638G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:5:0:0:0:1,4:32,121:0.00,12.92:0.00,0.00:0.00,12.92:0.00,0.96:0.00,0.00:0.00,0.96:60,50:11.0,223.2:0,0:0,0:104,69:47,78:0,12:-,chr2 g.96605400C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96605412 rs78283039 C A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=72;PC=0.022;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1532-649G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,C:6:0:0:0:5,1:149,35:16.11,0.00:0.00,0.00:16.11,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:217.4,11.0:0,0:0,0:79,115:70,36:23,0:chr2 g.96605411C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96606599 . C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;PC=0.005;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+309G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:4:0:0:2,2:67,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:40,27:123.5,167.0:0,0:0,0:15,87:135,63:8,12:-,chr2 g.96606598C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606602 . G A 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;PC=0.055;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+306C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,G:4:4:0:0:2,2:66,46:6.36,0.00:6.36,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:27,40:167.0,123.5:0,0:0,0:90,18:60,132:12,8:chr2 g.96606601G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96606662 rs199659700 TA T 8 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=85;PC=0.586;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+245delT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:TA,T:8:8:0:4:4,4:127,87:0.00,8.02:0.00,8.02:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:55,40:3.2,126.2:0,0:0,0:11,78:138,72:7,20:-,chr2 g.96606663delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606681 rs199632796 T A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;PC=0.119;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+227A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,T:7:7:0:0:3,4:100,132:9.36,0.00:9.36,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:40,55:113.0,3.2:0,0:0,0:88,30:62,119:17,7:chr2 g.96606680T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96606682 rs200352510 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;PC=0.080;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:7:7:0:0:3,4:102,131:9.56,0.00:9.56,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:40,55:113.0,3.2:0,0:0,0:89,31:61,118:17,7:chr2 g.96606681T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96606783 rs202017007 A ATAT 15 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+124_1531+125insATA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,ATAT:26:26:10:0:16,10:492,182:0.00,15.22:0.00,15.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,40:11.9,94.5:0,0:0,0:46,14:104,137:33,5:-,chr2 g.96606783_96606784insTAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606829 rs190428367 C T 114 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:70:67:0:0:1,30,39:10,953,1164:-0.05,0.00,114.34:-0.02,0.00,103.60:-0.03,0.00,10.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:4,60,56:35.0,3.2,124.8:0,0,37:0,0,0:27,37,40:83,113,109:0,16,15:-,chr2 g.96606828C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606833 . TGTTTC T 63 nt VT=DEL;SST=Single;DP=72;PC=0.026;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+70_1531+74delGAAAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGTTTC,T:72:69:0:37:35,37:1052,691:0.00,62.54:0.00,57.59:0.00,4.95:0.00,1.00:0.00,1.00:0.00,1.00:60,45:12.5,122.8:1,0:0,0:32,46:116,105:16,14:-,chr2 g.96606834_96606838delGTTTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606839 . T TA 63 idl,nt VT=INS;SST=Single;DP=71;PC=0.246;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+68_1531+69insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:71:68:37:1:34,37:1167,696:0.00,63.23:0.00,58.30:0.00,4.93:0.00,1.00:0.00,1.00:0.00,1.00:60,45:6.6,122.8:0,37:0,0:46,47:103,104:16,14:-,chr2 g.96606839_96606840insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606852 rs201301417 A T 189 nt VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=148;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+56T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:93:89:0:0:36,57:1188,1883:0.00,188.53:0.00,151.25:0.00,37.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,124.9:0,1:0,0:56,42:90,103:21,24:-,chr2 g.96606851A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606854 rs199773773 T C 194 nt VT=SNV;PN=A;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=600;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:94:89:0:0:57,37:1941,1144:194.05,0.00:154.01,0.00:40.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:125.5,8.8:0,0:0,0:41,55:104,89:22,19:chr2 g.96606853T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96606875 rs201912911 G T 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=0.648;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1531+33C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G,T:122:115:0:0:1,110,11:7,3515,351:-0.35,0.00,24.37:-0.24,0.00,16.70:-0.11,0.00,7.67:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.98:4,60,43:35.0,70.2,138.4:0,0,0:0,0,0:73,54,45:37,88,95:0,29,15:-,chr2 g.96606874G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606944 rs78739183 C T 289 lc VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=NA;NP=889;PC=0.637;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1495G>A;ProtCh=p.G499R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:149:108:0:0:61,1,87:1861,12,2911:0.00,-0.07,289.07:0.00,-0.10,162.16:0.00,0.03,126.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,15,60:8.7,139.0,132.1:0,0,1:0,0,0:79,9,98:58,142,49:33,0,26:-,chr2 g.96606943C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606948 . C . . NT END=96610374;NT GT ./. 2 96606952 rs139886833 TA T 50 idl,rn VT=DEL;SST=Single;DP=141;DB;DBA=NA;PAF=NA;NP=13;PC=0.092;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-6delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:128:100:12:45:84,11,33:2565,338,905:0.00,22.06,50.11:0.00,11.17,14.30:0.00,10.89,35.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,53,60:76.1,57.7,126.2:2,1,12:0,0,0:94,77,101:43,56,44:32,22,17:-,chr2 g.96606953delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96606985 rs79451673 T C 212 nt VT=SNV;PN=T;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=130;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:116:63:0:0:68,48:2142,1457:212.43,0.00:65.02,0.00:147.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:153.3,10.8:0,0:0,0:104,87:45,47:32,30:chr2 g.96606984T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96606998 rs201633069 C T 176 nt VT=SNV;PN=T;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=2;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:94:41:0:0:2,37,55:21,1177,1768:0.09,0.00,176.12:0.03,0.00,38.84:0.07,0.00,137.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:57,60,60:94.5,4.9,165.4:0,0,0:0,0,0:100,97,103:36,54,42:27,36,28:-,chr2 g.96606997C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96607003 . G A 179 nt VT=SNV;PN=C;NN=G;SST=Single;DP=90;NP=14;PC=0.024;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-56C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:39:0:0:54,36:1793,1028:178.89,0.00:38.11,0.00:140.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:168.0,10.2:0,0:0,0:94,83:56,62:36,30:chr2 g.96607002G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96607028 rs142163060 T C 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=393;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:19:0:0:38,33:1090,1074:105.70,0.00:17.49,0.00:88.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:170.7,23.2:0,0:0,0:92,87:54,62:23,26:chr2 g.96607027T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96607048 rs72933842 G A 96 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=458;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:10:0:0:31,29:992,844:95.99,0.00:5.05,0.00:90.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:169.4,13.0:0,0:0,0:102,97:43,53:15,28:chr2 g.96607047G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96607117 rs199971633 A ATT 10 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-171_1492-170insAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,ATT:28:0:11:0:17,11:515,141:0.00,10.46:0.00,0.00:0.00,10.46:0.00,1.00:0.00,0.00:0.00,1.00:60,40:34.2,111.6:0,0:0,0:118,41:33,108:23,9:-,chr2 g.96607117_96607118insTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96607118 rs374504014 C T 30 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-171G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:25:0:0:0:1,14,10:10,454,321:0.06,0.00,29.79:0.00,0.00,0.00:0.06,0.00,29.79:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:15,60,40:172.0,17.6,105.6:1,0,10:0,0,0:37,104,46:105,46,105:0,28,11:-,chr2 g.96607117C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96607188 rs72933844 C T 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=34;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-241G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,T:13:0:0:0:5,8:147,257:0.00,25.76:0.00,0.00:0.00,25.76:0.00,1.00:0.00,0.00:0.00,1.00:60,40:28.8,111.5:0,0:0,0:136,110:15,37:6,4:-,chr2 g.96607187C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96607205 rs368774499 CACTT C 13 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-262_1492-259delAAGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:CACTT,C:10:0:0:5:5,5:158,133:0.00,12.66:0.00,0.00:0.00,12.66:0.00,0.95:0.00,0.00:0.00,0.95:60,40:84.6,106.8:0,0:0,0:124,122:20,29:10,8:-,chr2 g.96607206_96607209delACTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96607211 rs75646787 T A 27 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=13;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-264A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,T:10:0:0:0:8,2:258,67:27.44,0.00:0.00,0.00:27.44,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,60:111.5,32.5:5,0:0,0:131,64:18,86:6,56:chr2 g.96607210T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96607235 rs201146176 C A 9 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1492-288G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C:6:0:0:0:3,3:93,99:8.92,0.00:0.00,0.00:8.92,0.00:0.98,0.00:0.00,0.00:0.98,0.00:33,60:130.3,21.7:0,0:0,0:147,32:4,118:1,20:chr2 g.96607234C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610329 rs201777230 G C 90 nt VT=SNV;PN=T;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=672;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1491+46C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:89:76:0:0:33,56:1003,1791:90.49,0.00:70.49,0.00:20.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:176.1,8.4:0,0:0,0:19,49:130,99:9,33:chr2 g.96610328G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610395 rs147285461 C CA 90 lc VT=INS;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=470;PC=0.015;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1470dupT;ProtCh=p.E491*;VC=FrameShiftIns;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:147:116:53:0:1,93,53:26,3042,1079:0.69,0.00,90.22:0.81,0.00,65.66:-0.13,0.00,24.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:7,60,44:127.0,9.4,176.9:1,2,0:0,0,0:102,61,62:47,81,85:0,25,13:-,chr2 g.96610395_96610396insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610399 rs200712471 C A 172 idl,lc VT=SNV;PN=A;NN=A;SST=Single;DP=149;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1467G>T;ProtCh=p.L489F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:149:113:0:0:57,91,1:1878,3021,8:172.17,0.00,-0.23:119.91,0.00,-0.14:52.26,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,60,51:177.5,6.3,51.0:56,0,0:0,0,0:74,59,74:73,82,77:14,27,0:chr2 g.96610398C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610410 rs77220524 T A 157 lc VT=SNV;PN=T;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=5;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1456A>T;ProtCh=p.N486Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:150:112:0:0:55,95:1732,2948:156.63,0.00:103.26,0.00:53.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,60:178.5,7.7:0,0:0,0:78,70:68,69:14,29:chr2 g.96610409T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610413 rs74491979 C T 159 lc VT=SNV;PN=T;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=3;PC=0.017;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1453G>A;ProtCh=p.E485K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:150:112:0:0:94,56:3167,1755:0.00,159.09:0.00,106.27:0.00,52.82:0.00,1.00:0.00,1.00:0.00,1.00:60,44:6.0,177.6:0,0:0,0:72,84:68,64:29,15:-,chr2 g.96610412C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610420 rs78473403 G T 166 lc VT=SNV;PN=T;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=NA;NP=6;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1446C>A;ProtCh=p.D482E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:149:109:0:0:92,57:2969,1822:0.00,166.35:0.00,111.50:0.00,54.85:0.00,1.00:0.00,1.00:0.00,1.00:60,44:5.7,176.1:0,0:0,0:79,90:64,57:28,14:-,chr2 g.96610419G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610443 . C . . NT END=96610861;NT GT ./. 2 96610455 . C A 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=131;PC=0.066;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-13G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:131:85:0:1:20,111:660,3677:51.25,0.00:41.06,0.00:10.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:205.1,51.0:0,0:0,0:117,106:28,43:12,25:chr2 g.96610454C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610479 rs200773992 A G 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=15;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-37T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:101:53:0:0:67,34:2170,993:0.00,87.43:0.00,38.43:0.00,49.01:0.00,1.00:0.00,1.00:0.00,1.00:60,43:6.7,206.1:0,0:0,0:104,134:38,16:26,12:-,chr2 g.96610478A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610495 rs144198449 G A 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=5;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:74:33:0:0:17,1,56:527,12,1892:43.61,-0.14,0.00:10.87,-0.10,0.00:32.74,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:41,9,60:232.2,242.0,6.8:0,0,0:0,0,0:126,23,109:25,128,39:23,0,19:chr2 g.96610494G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610525 rs79583286 G A 39 nt VT=SNV;PN=A;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:15:0:0:15,39:459,1328:39.20,0.00:5.31,0.00:33.89,0.00:1.00,0.00:0.98,0.00:1.00,0.00:40,60:242.7,6.2:0,0:0,0:53,122:98,29:38,18:chr2 g.96610524G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610540 rs371461424 G C 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-98C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:49:6:0:0:16,33:541,1111:48.29,0.00:6.17,0.00:42.12,0.00:1.00,0.00:0.89,0.00:1.00,0.00:40,60:246.9,8.7:0,0:0,0:44,98:107,49:31,30:chr2 g.96610539G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610544 rs375876591 G T 47 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.008;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-102C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:48:5:0:0:32,16:1037,529:0.00,47.27:0.00,5.56:0.00,41.71:0.00,1.00:0.00,0.86:0.00,1.00:60,40:6.4,246.9:0,0:0,0:107,48:41,103:29,31:-,chr2 g.96610543G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610546 rs367956544 G T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-104C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,G,T:48:5:0:0:8,32,8:239,1039,263:18.96,0.00,21.36:-0.16,0.00,5.64:19.12,0.00,15.72:0.00,0.00,0.96:0.00,0.00,0.59:0.00,0.00,1.00:37,60,40:243.8,6.4,250.0:0,0,0:0,0,0:80,109,37:70,39,113:42,29,17:-,chr2 g.96610545G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610552 rs11897663 G C 49 nt VT=SNV;PN=C;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.999,A/0.0009984,C/.;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-110C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:48:5:0:0:17,31:548,1021:49.33,0.00:6.18,0.00:43.16,0.00:1.00,0.00:0.88,0.00:1.00,0.00:40,60:240.6,10.4:0,0:0,0:47,102:104,48:29,30:chr2 g.96610551G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610567 . T TAC 25 nt VT=INS;SST=Single;DP=40;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-126_1424-125insGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAC:40:4:15:0:25,15:801,294:0.00,24.72:0.00,7.74:0.00,16.97:0.00,1.00:0.00,0.85:0.00,1.00:60,40:24.3,226.2:0,0:0,0:103,57:48,93:22,23:-,chr2 g.96610567_96610568insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610569 rs372181262 T A 45 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-127A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:39:4:0:0:15,24:494,807:45.27,0.00:9.67,0.00:35.59,0.00:1.00,0.00:0.86,0.00:1.00,0.00:40,60:226.2,13.8:15,0:0,0:61,104:89,46:23,23:chr2 g.96610568T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610611 rs201662207 C T 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=103;PC=0.007;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1424-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:13:0:0:20,22:678,676:0.00,65.40:0.00,32.84:0.00,32.56:0.00,1.00:0.00,1.00:0.00,1.00:60,40:12.9,166.7:0,0:0,0:75,64:72,83:51,38:-,chr2 g.96610610C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610667 rs202009915 C A 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=5;PC=0.010;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+195G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:A,C,G:37:20:0:0:3,33,1:96,982,10:6.55,0.00,-0.16:2.03,0.00,0.02:4.52,0.00,-0.18:0.38,0.00,0.00:0.70,0.00,0.00:0.65,0.00,0.00:25,55,40:197.0,70.7,105.0:0,0,0:0,0,0:104,77,77:40,73,63:32,34,0:chr2 g.96610666C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610678 rs199642933 G A 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=563;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+184C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:25:0:0:22,19:724,561:70.63,0.00:60.58,0.00:10.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:128.0,10.8:0,0:0,0:87,81:63,70:28,45:chr2 g.96610677G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610731 rs200547048 C G 33 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=244;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+131G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:29:21:0:0:16,13:493,358:0.00,33.29:0.00,35.48:0.00,-2.19:0.00,1.00:0.00,1.00:0.00,0.99:60,40:9.3,122.3:0,0:0,0:62,100:74,51:28,24:-,chr2 g.96610730C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610759 rs377016561 T A 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=375;PC=0.014;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+103A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:35:30:0:0:21,14:653,447:65.00,0.00:66.98,0.00:-1.99,0.00:1.00,0.00:1.00,0.00:0.78,0.00:40,60:124.7,13.9:0,0:0,0:26,72:122,78:22,25:chr2 g.96610758T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610768 rs376183764 T G 77 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.999,C/0.0009984,G/.;NP=570;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+94A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:38:33:0:0:23,15:767,434:76.63,0.00:78.65,0.00:-2.02,0.00:1.00,0.00:1.00,0.00:0.99,0.00:40,60:123.3,13.0:0,0:0,0:31,72:120,79:19,28:chr2 g.96610767T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610787 rs112708872 C CA 76 sb,rn VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=714;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+74_1423+75insT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:53:47:28:0:4,21,28:127,638,774:9.41,0.00,75.73:6.87,0.00,77.84:2.53,0.00,-2.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:57,60,46:140.8,33.0,114.8:1,0,0:0,0,0:0,77,31:150,60,119:0,48,19:-,chr2 g.96610787_96610788insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610805 rs371613132 AAGAAAG A 49 nt VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=251;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+51_1423+56delCTTTCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAGAAAG,A:81:68:0:21:62,19:1896,586:0.00,48.52:0.00,36.74:0.00,11.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:71.2,111.5:18,0:0,0:24,20:120,125:20,8:-,chr2 g.96610806_96610811delAGAAAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610806 rs369118326 AGAAAG A 15 idl,nt VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=4;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+51_1423+55delCTTTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:AGAAAG,A:65:54:0:28:58,7:1806,214:0.00,15.11:0.00,11.18:0.00,3.93:0.00,0.90:0.00,0.99:0.00,0.82:60,52:68.1,132.6:23,0:0,0:20,31:121,118:18,12:-,chr2 g.96610807_96610811delGAAAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610809 rs369841640 AAG A 23 idl,nt VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+51_1423+52delCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAG,A:59:49:0:39:48,11:1458,299:0.00,22.87:0.00,18.02:0.00,4.86:0.00,1.00:0.00,1.00:0.00,0.96:60,55:59.5,125.0:14,0:0,0:21,23:117,125:18,9:-,chr2 g.96610810_96610811delAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610810 rs373033382 AG A 28 idl,nt VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+51delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:49:41:0:52:36,13:1176,345:0.00,28.36:0.00,25.33:0.00,3.03:0.00,1.00:0.00,1.00:0.00,0.99:60,60:38.0,119.4:1,0:0,0:19,33:119,117:13,29:-,chr2 g.96610811delG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610811 rs200035163 G A 27 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+51C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,I:40:32:1:52:11,28,1:315,898,33:26.68,0.00,1.87:17.30,0.00,0.87:9.38,0.00,1.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,45:158.4,10.0,0.0:0,0,0:0,0,0:5,25,25:145,111,117:5,18,0:chr2 g.96610810G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610836 rs11893977 T C 379 nt VT=SNV;PN=A;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=NA;NP=955;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1423+26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:143:117:0:0:109,34:3611,1021:379.15,0.00:238.71,0.00:140.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:135.1,6.6:0,0:0,0:25,37:120,110:16,19:chr2 g.96610835T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610899 rs62154593 T C 497 lc VT=SNV;PN=T;NN=G;SST=Single;DP=190;DB;DBA=NA;PAF=NA;NP=984;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1386A>G;ProtCh=p.T462=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:190:136:0:0:148,42:4705,1368:497.24,0.00:235.39,0.00:261.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:130.1,5.1:0,0:0,0:78,80:64,66:20,21:chr2 g.96610898T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610921 rs62154594 T G 520 lc VT=SNV;PN=A;NN=T;SST=Single;DP=185;DB;DBA=NA;PAF=NA;NP=999;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1364A>C;ProtCh=p.N455T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:185:119:0:0:1,145,39:24,4924,1263:0.59,520.25,0.00:-0.04,209.02,0.00:0.63,311.23,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:83.0,131.4,7.1:0,0,0:0,0,0:114,95,100:37,50,42:0,18,22:chr2 g.96610920T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610923 . C . . NT END=96614277;NT GT ./. 2 96610923 rs75080810 C G 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=184;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-1G>C;VC=SpliceSiteCDS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:184:118:0:0:1,157,26:12,5200,907:-0.26,0.00,70.64:-0.14,0.00,41.43:-0.12,0.00,29.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:83.0,97.1,157.5:0,0,0:0,0,0:116,96,96:35,48,53:0,22,15:-,chr2 g.96610922C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96610952 rs62154595 T C 417 nt VT=SNV;PN=A;NN=A;SST=Single;DP=152;DB;DBA=NA;PAF=NA;NP=986;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-30A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:152:78:0:0:118,34:3955,1059:416.73,0.00:133.64,0.00:283.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:135.7,9.7:0,0:0,0:112,107:36,42:15,27:chr2 g.96610951T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96610958 rs79852024 G T 69 nt VT=SNV;PN=T;NN=C;SST=Single;DP=140;DB;DBA=NA;PAF=NA;NP=107;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-36C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:140:67:0:0:112,28:3724,861:0.00,69.08:0.00,19.10:0.00,49.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:96.9,147.0:0,0:0,0:118,115:31,35:15,16:-,chr2 g.96610957G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96611018 rs62154596 G A 141 nt VT=SNV;PN=T;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=938;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-96C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:1:0:0:42,16:1360,496:141.19,0.00:-0.28,0.00:141.47,0.00:1.00,0.00:0.82,0.00:1.00,0.00:56,60:128.5,7.2:0,0:0,0:101,106:50,44:29,23:chr2 g.96611017G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96611038 . T A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;NP=33;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-116A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,T:50:0:0:0:4,46:134,1533:9.26,0.00:0.00,0.00:9.26,0.00:0.55,0.00:0.00,0.00:0.55,0.00:52,58:154.5,87.9:0,0:0,0:132,102:16,47:13,36:chr2 g.96611037T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96611078 rs62154597 T G 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=907;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-156A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:0:0:0:27,9:875,273:91.57,0.00:0.00,0.00:91.57,0.00:1.00,0.00:0.00,0.00:1.00,0.00:50,55:118.7,13.7:0,0:0,0:65,117:86,34:21,31:chr2 g.96611077T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96611088 rs62154598 G A 86 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=907;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-166C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,G:32:0:0:0:25,7:814,225:85.98,0.00:0.00,0.00:85.98,0.00:1.00,0.00:0.00,0.00:1.00,0.00:50,55:118.2,17.6:0,0:0,0:72,79:79,72:23,56:chr2 g.96611087G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96611141 rs374257370 AC A 12 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=155;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-220delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:AC,A:27:0:0:5:22,5:566,150:0.00,11.79:0.00,0.00:0.00,11.79:0.00,0.82:0.00,0.00:0.00,0.82:55,50:103.8,121.8:0,0:0,0:111,123:39,28:24,14:-,chr2 g.96611142delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96611145 . C A 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;NP=1;NP=67;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-223G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,C:23:0:0:0:3,20:104,551:7.97,0.00:0.00,0.00:7.97,0.00:0.47,0.00:0.00,0.00:0.47,0.00:45,55:162.3,97.1:0,5:0,0:129,97:22,53:7,23:chr2 g.96611144C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96611146 rs2315147 A G 57 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=505;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1363-224T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,G:23:0:0:0:5,18:126,537:0.00,57.08:0.00,0.00:0.00,57.08:0.00,1.00:0.00,0.00:0.00,1.00:55,52:58.6,118.7:0,5:0,0:76,116:74,34:20,19:-,chr2 g.96611145A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96614092 rs4243789 C A 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1362+186G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,C:9:9:0:0:8,1:213,35:23.65,0.00:23.65,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,40:39.8,137.0:0,0:0,0:49,34:101,116:33,0:chr2 g.96614091C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96614212 rs4907288 A G 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.7057,G/0.2943;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1362+66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:23:20:0:0:14,8,1:448,261,18:0.00,23.65,0.69:0.00,20.89,0.74:0.00,2.76,-0.06:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.87,0.00:60,60,40:8.4,41.0,219.0:0,0,0:0,0,0:34,75,85:116,73,35:20,44,0:-,chr2 g.96614211A>G (intergenic):-,0.32:-,NOT_FOUND 2 96614345 . C . . NT END=96616496;NT GT ./. 2 96616149 rs2107874 A C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+348T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:5:5:0:0:2,3:65,103:0.00,10.27:0.00,10.27:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:50,52:0.0,163.0:0,0:0,0:22,13:128,138:3,8:-,chr2 g.96616148A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616159 rs73958156 G A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=197;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+338C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:6:6:0:0:4,2:121,64:12.35,0.00:12.35,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:52,50:146.2,0.0:0,0:0,0:19,32:132,118:8,3:chr2 g.96616158G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616160 rs73958157 C T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=192;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+337G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:6:6:0:0:2,4:70,108:0.00,11.00:0.00,11.00:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:50,52:0.0,146.2:0,0:0,0:33,20:117,131:3,8:-,chr2 g.96616159C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616243 rs62154608 G C 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=634;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+254C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:16:16:0:0:9,6,1:288,209,8:28.69,0.00,0.12:28.69,0.00,0.12:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:52,60,3:123.0,0.0,97.0:0,0,0:0,0,0:67,53,62:83,97,88:24,26,0:chr2 g.96616242G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616310 rs139114553 C T 33 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=24;PC=0.011;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:28:28:0:0:1,15,12:10,484,358:0.05,0.00,33.46:0.06,0.00,33.59:-0.01,0.00,-0.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.62:50,60,52:89.0,27.1,160.5:1,5,12:0,0,0:25,41,66:126,107,84:0,24,41:-,chr2 g.96616309C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616313 . A ATT 47 nt VT=INS;SST=Single;DP=30;NP=186;PC=0.020;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+183_1295+184insAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATT:30:30:18:0:12,18:333,474:0.00,46.75:0.00,46.95:0.00,-0.20:0.00,1.00:0.00,1.00:0.00,0.73:60,53:7.1,134.1:0,0:0,0:33,50:116,99:23,31:-,chr2 g.96616313_96616314insTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616320 rs4110270 A G 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.010;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+177T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:38:38:0:0:30,8:959,254:0.00,20.73:0.00,20.78:0.00,-0.05:0.00,0.97:0.00,0.97:0.00,0.47:60,40:80.9,165.9:0,0:0,0:33,78:116,72:23,57:-,chr2 g.96616319A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616327 . C G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+170G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,G:40:40:0:0:36,4:1178,125:0.00,8.77:0.00,8.79:0.00,-0.02:0.00,0.59:0.00,0.59:0.00,0.40:60,52:95.9,176.2:0,0:0,0:40,33:109,117:29,7:-,chr2 g.96616326C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616348 rs62154609 C G 97 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+149G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:46:0:0:19,28:644,972:0.00,96.79:0.00,97.18:0.00,-0.39:0.00,1.00:0.00,1.00:0.00,0.73:60,53:4.5,168.1:0,0:0,0:35,41:115,103:20,21:-,chr2 g.96616347C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616353 rs150793442 GT G 25 nt VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=117;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+143delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:48:47:0:10:38,10:1296,311:0.00,25.21:0.00,25.31:0.00,-0.10:0.00,0.99:0.00,1.00:0.00,0.47:60,53:106.2,115.6:0,0:0,0:44,41:100,109:22,17:-,chr2 g.96616354delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616354 rs78161475 T C 67 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+143A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:37:0:10:20,18:688,577:66.92,0.00:67.25,0.00:-0.32,0.00:1.00,0.00:1.00,0.00:0.68,0.00:52,60:197.6,4.7:0,0:0,0:47,41:97,109:25,19:chr2 g.96616353T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616355 rs62154610 T C 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=195;PC=0.004;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+142A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:48:0:0:10,39:311,1313:25.11,0.00:25.21,0.00:-0.10,0.00:0.99,0.00:1.00,0.00:0.47,0.00:53,60:115.6,103.5:0,0:0,0:42,45:108,100:17,23:chr2 g.96616354T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616361 rs1852833 A C 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+136T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,C:54:53:0:0:47,7:1523,223:0.00,16.65:0.00,16.71:0.00,-0.06:0.00,0.92:0.00,1.00:0.00,0.42:60,40:91.9,221.1:0,0:0,0:47,54:103,90:20,33:-,chr2 g.96616360A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616362 rs1636113 A T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+135T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:A,T:57:56:0:0:48,9:1569,284:0.00,21.92:0.00,22.00:0.00,-0.07:0.00,0.98:0.00,1.00:0.00,0.44:60,40:92.9,208.2:0,0:0,0:46,28:104,123:22,28:-,chr2 g.96616361A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616378 rs62154611 C T 149 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+119G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:69:0:0:23,47:769,1456:0.00,148.67:0.00,149.63:0.00,-0.97:0.00,1.00:0.00,1.00:0.00,0.97:60,54:4.7,171.1:0,0:0,0:50,48:100,102:29,32:-,chr2 g.96616377C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616442 rs74960926 C A 256 nt VT=SNV;PN=T;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=C/0.999,A/0.0009984;PC=0.013;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+55G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:122:110:0:0:82,40:2504,1376:255.62,0.00:207.84,0.00:47.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:213.0,2.7:0,0:0,0:53,52:96,97:25,31:chr2 g.96616441C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616448 rs76503749 G T 285 nt VT=SNV;PN=C;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=G/0.999,A/.,T/0.0009984;PC=0.005;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+49C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:123:109:0:0:41,82:1298,2798:0.00,284.90:0.00,233.54:0.00,51.36:0.00,1.00:0.00,1.00:0.00,1.00:60,54:3.5,207.8:0,0:0,0:38,61:106,87:24,24:-,chr2 g.96616447G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616485 rs78218362 C G 215 nt VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1295+12G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:114:87:0:0:48,66:1615,2176:0.00,215.38:0.00,146.30:0.00,69.08:0.00,1.00:0.00,1.00:0.00,1.00:60,54:3.8,223.0:0,0:0,0:60,88:83,62:27,18:-,chr2 g.96616484C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616504 rs78179792 C A 165 lc VT=SNV;PN=A;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1288G>T;ProtCh=p.V430F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:108:75:0:0:55,53:1718,1777:165.50,0.00:94.79,0.00:70.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:234.9,4.4:0,0:0,0:98,75:52,71:15,30:chr2 g.96616503C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616506 rs79025720 G C 157 lc VT=SNV;PN=A;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1286C>G;ProtCh=p.A429G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:103:69:0:2:50,53:1646,1818:157.43,0.00:92.50,0.00:64.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:235.6,4.4:0,0:0,0:97,77:53,69:15,30:chr2 g.96616505G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616507 rs79603357 C A 181 lc VT=SNV;PN=G;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1285G>T;ProtCh=p.A429S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:111:77:0:2:58,53:1864,1699:180.72,0.00:108.07,0.00:72.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:234.3,4.4:0,0:0,0:104,79:46,63:13,35:chr2 g.96616506C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616528 . C . . NT END=96617095;NT GT ./. 2 96616532 rs112676430 T G 138 nt VT=SNV;PN=T;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-5A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:95:59:0:0:1,46,48:12,1447,1519:-0.06,138.29,0.00:-0.10,67.51,0.00:0.04,70.78,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:39,52,60:281.0,240.1,3.3:0,0,0:0,0,0:0,119,88:151,31,61:0,12,22:chr2 g.96616531T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616571 rs146478446 C A 43 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-44G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:53:17:0:0:18,35:492,1160:43.02,0.00:1.35,0.00:41.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:265.6,3.4:0,0:0,0:131,108:9,43:16,26:chr2 g.96616570C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616576 rs143490798 T C 33 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-49A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:47:16:0:0:1,13,33:8,388,1028:-0.18,33.12,0.00:-0.10,1.48,0.00:-0.08,31.64,0.00:0.00,1.00,0.00:0.00,0.98,0.00:0.00,1.00,0.00:40,40,60:195.0,271.5,3.6:0,0,0:0,0,0:39,127,113:70,21,37:0,21,17:chr2 g.96616575T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616580 rs201649771 A G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-53T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:13:0:0:30,9:982,276:0.00,22.75:0.00,-1.14:0.00,23.89:0.00,0.99:0.00,0.58:0.00,1.00:60,40:3.9,253.0:0,0:0,0:107,81:42,61:22,47:-,chr2 g.96616579A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616597 rs114583836 A G 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:10:0:0:30,9:896,281:0.00,23.26:0.00,-0.86:0.00,24.12:0.00,0.99:0.00,0.89:0.00,1.00:60,41:3.5,260.7:0,0:0,0:124,60:25,86:22,38:-,chr2 g.96616596A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616599 rs116630524 G A 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:A,G:35:9:0:0:8,27:187,883:14.37,0.00:-0.78,0.00:15.15,0.00:0.98,0.00:0.86,0.00:1.00,0.00:41,60:260.8,2.2:0,0:0,0:57,109:91,34:31,28:chr2 g.96616598G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616607 rs141967446 G T 24 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-80C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:33:7:0:0:23,10:734,285:0.00,24.49:0.00,-0.85:0.00,25.34:0.00,1.00:0.00,0.90:0.00,1.00:60,43:3.0,255.5:0,0:0,0:108,53:42,97:25,35:-,chr2 g.96616606G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616622 rs112338915 C T 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-95G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:4:0:0:19,13:595,336:0.00,30.39:0.00,-0.79:0.00,31.18:0.00,1.00:0.00,0.88:0.00,1.00:60,43:10.7,242.2:0,0:0,0:110,28:39,123:22,23:-,chr2 g.96616621C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616654 rs75283408 C A 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=6;PC=0.005;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-127G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:28:1:0:0:13,15:425,452:40.31,0.00:3.34,0.00:36.97,0.00:1.00,0.00:0.64,0.00:1.00,0.00:57,60:243.3,21.2:0,0:0,0:48,104:103,47:16,38:chr2 g.96616653C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616667 rs77249402 A C 40 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=8;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-140T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:25:1:0:1:12,13:325,409:0.00,39.57:0.00,3.39:0.00,36.18:0.00,1.00:0.00,0.68:0.00,1.00:60,57:40.2,245.5:0,0:0,0:79,61:71,90:39,17:-,chr2 g.96616666A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616690 rs111409549 T C 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=13;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-163A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:2:0:0:14,11:467,253:46.02,0.00:3.37,0.00:42.65,0.00:1.00,0.00:0.84,0.00:1.00,0.00:57,60:230.0,28.0:0,0:0,0:80,61:68,88:14,39:chr2 g.96616689T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616693 rs112782601 C A 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=1;NP=35;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-166G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:2:0:0:15,11:455,344:44.94,0.00:3.16,0.00:41.77,0.00:1.00,0.00:0.85,0.00:1.00,0.00:57,60:215.4,28.0:0,0:0,0:83,64:65,85:16,39:chr2 g.96616692C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616749 rs76572760 G T 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=19;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-222C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:23:3:0:0:1,11,11:6,309,375:-0.08,0.00,36.15:-0.03,0.00,3.03:-0.05,0.00,33.12:0.00,0.00,1.00:0.00,0.00,0.87:0.00,0.00,1.00:43,60,57:135.0,35.5,216.7:0,0,0:0,0,0:133,65,127:18,85,23:0,24,16:-,chr2 g.96616748G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96616758 rs79038786 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=342;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-231A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:3:0:0:8,11:265,320:24.71,0.00:3.25,0.00:21.46,0.00:0.99,0.00:0.82,0.00:1.00,0.00:57,60:210.0,35.5:0,0:0,0:100,74:50,76:35,40:chr2 g.96616757T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96616759 rs199561017 G A 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=109;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1265-232C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:19:3:0:0:3,16:98,524:7.63,0.00:-0.19,0.00:7.82,0.00:0.51,0.00:0.45,0.00:0.89,0.00:45,60:230.3,86.2:0,0:0,0:52,94:92,56:29,32:chr2 g.96616758G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96617029 rs201514770 G GA 16 idl,rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1264+66_1264+67insT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,GA,D:25:26:8:4:16,6,3:555,253,125:0.00,16.47,7.24:0.00,16.53,4.95:0.00,-0.05,2.28:0.00,0.91,0.00:0.00,0.99,0.00:0.00,0.55,0.00:60,60,60:7.4,36.8,0.0:0,2,1:0,0,0:64,12,45:83,134,106:53,8,30:-,chr2 g.96617029_96617030insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96617157 . C . . NT END=96619686;NT GT ./. 2 96619559 rs200413127 T A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=8;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1203+128A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:20:20:0:0:7,1,12:214,18,394:19.30,0.74,0.00:19.30,0.74,0.00:0.00,0.00,0.00:0.97,0.00,0.00:0.97,0.00,0.00:0.00,0.00,0.00:40,60,60:170.0,75.0,8.2:0,0,0:0,0,0:17,125,73:132,25,77:7,0,50:chr2 g.96619558T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96619612 rs143611798 C T 70 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=2;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1203+75G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:51:0:0:26,25:889,736:0.00,70.14:0.00,70.73:0.00,-0.59:0.00,1.00:0.00,1.00:0.00,0.93:60,40:3.8,162.0:0,0:0,0:38,43:113,108:19,17:-,chr2 g.96619611C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619641 rs200910276 A C 124 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=41;PC=0.072;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1203+46T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:70:69:0:0:32,38:1054,1268:0.00,123.94:0.00,123.66:0.00,0.28:0.00,1.00:0.00,1.00:0.00,1.00:60,42:8.1,168.9:0,0:0,0:50,46:100,103:23,26:-,chr2 g.96619640A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619642 rs201891130 A T 122 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=11;PC=0.010;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1203+45T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:70:69:0:0:32,38:1067,1253:0.00,122.43:0.00,122.15:0.00,0.28:0.00,1.00:0.00,1.00:0.00,1.00:60,42:7.2,169.9:0,0:0,0:42,47:107,102:24,26:-,chr2 g.96619641A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619660 rs78395212 A C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=26;PC=0.412;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1203+27T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:97:93:0:0:83,14:2648,428:0.00,32.14:0.00,31.38:0.00,0.76:0.00,1.00:0.00,1.00:0.00,0.83:60,42:82.4,189.1:0,0:0,0:48,34:98,112:33,24:-,chr2 g.96619659A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619687 rs199947548 C T 42 sb,lc VT=SNV;PN=C;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.793;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1203G>A;ProtCh=p.E401=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:120:113:0:0:1,102,17:10,3201,547:-0.27,0.00,41.68:-0.20,0.00,43.00:-0.07,0.00,-1.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:54,60,50:182.0,90.2,175.1:0,0,0:0,0,0:62,49,51:89,93,99:0,24,39:-,chr2 g.96619686C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619688 rs74946480 T G 213 lc VT=SNV;PN=C;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA;NP=819;PC=0.276;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1202A>C;ProtCh=p.E401A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:120:113:0:0:1,71,48:35,2143,1496:1.72,213.29,0.00:1.76,191.87,0.00:-0.05,21.42,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,51,60:169.0,170.8,9.7:0,0,0:0,0,0:35,38,70:114,109,78:0,22,35:chr2 g.96619687T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96619734 rs62154618 C T 265 lc VT=SNV;PN=G;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=900;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1156G>A;ProtCh=p.A386T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:102:0:0:45,83:1477,2617:0.00,265.23:0.00,170.37:0.00,94.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,178.2:0,0:0,0:81,64:63,85:33,22:-,chr2 g.96619733C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619735 rs200095242 A G 67 lc VT=SNV;PN=C;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1155T>C;ProtCh=p.D385=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:130:104:0:0:106,24:3424,828:0.00,67.27:0.00,47.54:0.00,19.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:110.3,172.1:0,0:0,0:74,66:71,84:31,21:-,chr2 g.96619734A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619736 . T C 26 lc VT=SNV;PN=A;NN=C;SST=Single;DP=130;NP=7;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1154A>G;ProtCh=p.D385G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,G,T:130:104:0:0:12,1,117:375,10,3745:25.99,-0.33,0.00:19.59,-0.24,0.00:6.40,-0.09,0.00:0.99,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,60,60:182.5,46.0,111.8:0,0,0:0,0,0:83,65,71:67,47,76:16,0,26:chr2 g.96619735T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96619754 . C . . NT END=96622533;NT GT ./. 2 96619773 rs201932663 A C 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-20T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:127:74:0:0:109,18:3571,597:0.00,45.80:0.00,18.05:0.00,27.75:0.00,1.00:0.00,1.00:0.00,1.00:60,51:118.5,206.9:0,0:0,0:90,79:55,61:26,22:-,chr2 g.96619772A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619774 rs77522461 G A 279 nt VT=SNV;PN=A;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=604;PC=0.003;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:127:74:0:0:85,42:2735,1317:279.10,0.00:123.35,0.00:155.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:186.3,10.2:0,0:0,0:91,96:54,49:25,25:chr2 g.96619773G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96619799 rs145806545 A C 287 nt VT=SNV;PN=T;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=192;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-46T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:122:52:0:0:37,85:1187,2793:0.00,287.24:0.00,92.58:0.00,194.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,207.9:0,0:0,0:107,91:44,60:31,25:-,chr2 g.96619798A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619804 . A G 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=121;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,G:121:44:0:0:111,10:3597,304:0.00,20.27:0.00,7.04:0.00,13.22:0.00,0.97:0.00,0.92:0.00,1.00:60,51:144.2,214.4:0,0:0,0:97,117:53,30:30,23:-,chr2 g.96619803A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619831 rs76870447 T C 155 nt VT=SNV;PN=G;NN=A;SST=Single;DP=101;DB;DBA=NA;PAF=NA;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:101:12:0:0:51,50:1606,1555:154.54,0.00:9.47,0.00:145.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:226.0,98.0:0,0:0,0:106,92:45,59:24,27:chr2 g.96619830T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96619832 rs79037822 A G,T 134 nt VT=SNV;PN=T;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:62:A,C,G,T:97:11:0:0:25,1,42,29:826,5,1355,873:0.00,-0.09,134.07,82.05:0.00,-0.01,10.08,2.52:0.00,-0.08,123.99,79.54:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,51:5.3,213.0,223.0,220.2:0,0,0,0:0,0,0,0:100,69,86,107:51,73,64,44:27,0,30,18:chr2 g.96619831A>G (intergenic),chr2 g.96619831A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96619837 rs77007933 C G 216 nt VT=SNV;PN=C;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-84G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:93:8:0:0:1,24,68:8,779,2064:-0.05,0.00,215.62:-0.01,0.00,9.43:-0.04,0.00,206.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.0,10.2,222.3:0,0,0:0,0,0:90,95,95:61,55,54:0,33,27:-,chr2 g.96619836C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619838 rs79612785 A C 210 nt VT=SNV;PN=C;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=2;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-85T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:93:8:0:0:25,68:729,2010:0.00,209.66:0.00,10.48:0.00,199.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,223.2:0,1:0,0:92,98:58,52:31,25:-,chr2 g.96619837A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619849 rs201387352 A T 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=11;PC=0.002;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-96T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:90:4:0:0:71,3,16:2264,94,478:0.00,5.37,37.43:0.00,-0.04,-0.21:0.00,5.40,37.65:0.00,0.00,1.00:0.00,0.00,0.55:0.00,0.00,1.00:60,45,46:146.1,261.7,232.5:0,0,0:0,0,0:96,134,117:53,17,33:33,7,17:-,chr2 g.96619848A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96619853 rs201388512 T C 69 nt VT=SNV;PN=G;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=41;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:88:2:0:0:25,1,62:793,12,1894:68.59,-0.13,0.00:-0.22,-0.01,0.00:68.81,-0.12,0.00:1.00,0.00,0.00:0.57,0.00,0.00:1.00,0.00,0.00:60,60,60:213.3,213.0,141.7:0,0,0:0,0,0:97,90,108:53,52,39:26,0,30:chr2 g.96619852T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96619873 rs111807008 C A 63 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=365;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-120G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:70:1:0:0:22,48:711,1517:62.69,0.00:-0.08,0.00:62.77,0.00:1.00,0.00:0.54,0.00:1.00,0.00:60,60:201.1,112.4:0,0:0,0:105,99:45,43:22,29:chr2 g.96619872C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 96619966 rs76258649 A C 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=36;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1137-213T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,C:13:0:0:0:9,4:266,121:0.00,10.53:0.00,0.00:0.00,10.53:0.00,0.79:0.00,0.00:0.00,0.79:60,60:3.9,147.0:0,0:0,0:111,141:40,6:14,8:-,chr2 g.96619965A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96622565 . C . . NT END=96624338;NT GT ./. 2 96624412 . C . . NT END=96624504;NT GT ./. 2 96624534 . C . . NT END=96626220;NT GT ./. 2 96624861 rs199538950 A G 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=61;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1004-328T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:1:0:0:3,2:101,69:0.00,6.39:0.00,-0.11:0.00,6.50:0.00,0.46:0.00,0.60:0.00,0.46:60,22:0.0,139.0:0,0:0,0:99,109:50,41:21,0:-,chr2 g.96624860A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96626030 rs7566050 T C 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7057,C/0.2943;Gene=ANKRD36C/NM_001310154.1/1;CC=c.1003+191A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:7,8:234,226:22.24,0.00:22.24,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:36.6,9.5:0,0:0,0:43,76:108,74:41,28:chr2 g.96626029T>C (intergenic),-:0.35,-:NOT_FOUND,- 2 96626292 rs4362598 C T 186 lc VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.037;Gene=ANKRD36C/NM_001310154.1/1;CC=c.932G>A;ProtCh=p.G311D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:T:51:18:0:0:51:1621:186.28:49.18:137.10:1.00:1.00:1.00:50:39.6:0:0:109:39:20:chr2 g.96626291C>T (intergenic),chr2 g.96626291C>T (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 2 96626294 . C . . NT END=96626386;NT GT ./. 2 96626416 . C . . NT END=96628099;NT GT ./. 2 96626695 . C T 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;Gene=ANKRD36C/NM_001310154.1/1;CC=c.902-280G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:C,T:12:0:0:0:5,7:159,229:0.00,22.70:0.00,0.00:0.00,22.70:0.00,0.99:0.00,0.00:0.00,0.99:55,27:54.2,58.0:0,0:0,0:100,68:51,83:13,44:-,chr2 g.96626694C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96626734 rs62155480 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7051,G/0.2949;NP=27;PC=0.010;Gene=ANKRD36C/NM_001310154.1/1;CC=c.902-319T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:8:0:0:0:4,4:116,137:0.00,13.20:0.00,0.00:0.00,13.20:0.00,0.99:0.00,0.00:0.00,0.99:55,27:67.8,66.0:0,0:0,0:129,90:22,60:12,15:-,chr2 g.96626733A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96628173 . C . . NT END=96628266;NT GT ./. 2 96628296 . C . . NT END=96643869;NT GT ./. 2 96643938 . C . . NT END=96646395;NT GT ./. 2 96646534 . C . . NT END=96648003;NT GT ./. 2 96647856 rs4144055 G T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7057,T/0.2943;PC=0.001;Gene=ANKRD36C/NM_001310154.1/1;CC=c.593+148C>A;VC=Intron;DM=ANKRD36C/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:G,T:11:11:0:0:6,5:175,139:0.00,12.99:0.00,12.99:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:19.7,30.6:0,0:0,0:29,106:121,44:4,23:-,chr2 g.96647855G>T (intergenic):-,0.34:-,NOT_FOUND 2 96648111 . C . . NT END=96652498;NT GT ./. 2 96652673 . C . . NT END=96652839;NT GT ./. 2 96652816 rs547256175 CAA C 68 nt VT=DEL;SST=Single;DP=124;DB;DBA=NA;PAF=CAA/0.6643,C/0.3357;DB;DBA=NA;PAF=CAA/0.6643,C/0.3357;NP=48;PC=0.249;Gene=ANKRD36C/NM_001310154.1/1;CC=c.312+22_312+23delTT;VC=Intron;DM=ANKRD36C/Ank_2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,C:124:66:0:36:88,36:2878,833:0.00,67.83:0.00,36.07:0.00,31.76:0.00,1.00:0.00,1.00:0.00,1.00:60,50:9.5,12.4:0,0:0,0:58,112:93,38:41,23:-,chr2 g.96652817_96652818delAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 96652955 . C . . NT END=96657259;NT GT ./. 2 96657457 . A . . NT END=96687910;NT GT ./. 2 96657575 rs62155511 A G 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.6989,G/0.3011;PC=0.033;Gene=ANKRD36C/NM_001310154.1/1;CC=c.-119T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:0:0:0:20,16:678,450:0.00,41.86:0.00,0.00:0.00,41.86:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.8,42.5:0,0:0,0:102,99:48,51:24,34:-,chr2 g.96657574A>G (intergenic):-,0.36:-,NOT_FOUND 2 96679384 rs2579517 C T 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.7179,T/0.2821;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:49:49:0:0:19,1,29:560,5,877:0.00,-0.12,87.48:0.00,-0.12,80.82:0.00,-0.00,6.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,57,60:20.3,158.0,45.0:0,0,0:0,0,0:52,37,54:99,69,97:27,0,25:-,NR_003698.1(FAHD2CP) n.182+2904C>T:-,0.33:-,NOT_FOUND 2 96679740 rs2438978 G C 200 nt VT=SNV;PN=C;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.7258,C/0.2742;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:122:54:0:0:65,57:2057,1959:200.00,0.00:57.57,0.00:142.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,8.2:0,0:0,0:94,85:50,60:32,31:NR_003698.1(FAHD2CP) n.182+3260G>C,-:0.34,-:NOT_FOUND,- 2 96679934 rs545983595 TAAC T 14 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TAAC/0.5483,T/0.4517;DB;DBA=NA;PAF=TAAC/0.5483,T/0.4517;NP=59;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:TAAC,T:12:0:0:5:7,5:213,147:0.00,13.54:0.00,0.00:0.00,13.54:0.00,0.92:0.00,0.00:0.00,0.92:60,57:41.3,61.2:0,0:0,0:78,119:70,32:52,17:-,NR_003698.1(FAHD2CP) n.182+3455_182+3457delAAC:-,0.38:-,NOT_FOUND 2 96679943 rs58376076 G C 18 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5419,C/0.4581;NP=3;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:C,G:11:0:0:0:6,5:188,146:18.39,0.00:0.00,0.00:18.39,0.00:0.98,0.00:0.00,0.00:0.98,0.00:57,60:62.0,57.8:5,0:0,0:107,65:44,83:28,22:NR_003698.1(FAHD2CP) n.182+3463G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 96679968 rs2462777 C T 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3097,T/0.6903;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:239:27.71:0.00:27.71:1.00:0.00:1.00:56:73.4:0:0:88:60:25:NR_003698.1(FAHD2CP) n.182+3488C>T,NR_003698.1(FAHD2CP) n.182+3488C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 96679978 rs2462776 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7344,G/0.2656;PC=0.001;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:7:0:0:0:3,4:75,95:0.00,9.34:0.00,0.00:0.00,9.34:0.00,0.90:0.00,0.00:0.00,0.90:52,51:77.0,72.2:0,0:0,0:85,98:66,50:39,13:-,NR_003698.1(FAHD2CP) n.182+3498A>G:-,0.31:-,NOT_FOUND 2 96680567 rs62155519 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9299,A/0.07009;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G:5:5:0:0:4,1:136,24:14.42,0.00:14.42,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:40,53:34.0,91.0:0,0:0,0:36,138:113,7:6,0:NR_003698.1(FAHD2CP) n.182+4087G>A,-:0.08,-:NOT_FOUND,- 2 96681081 rs200623137 C T 130 nt VT=SNV;PN=G;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.042;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:36:0:0:56,45:1783,1383:0.00,129.61:0.00,27.49:0.00,102.11:0.00,1.00:0.00,1.00:0.00,1.00:43,43:12.8,39.6:0,0:0,0:98,104:52,47:27,25:-,NR_003698.1(FAHD2CP) n.182+4601C>T:-,NOT_FOUND:-,NOT_FOUND 2 96684876 rs2579516 A G 239 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.01577,G/0.9842;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:61:0:0:69:2065:238.86:171.63:67.23:1.00:1.00:1.00:60:36.1:0:0:40:111:27:NR_003698.1(FAHD2CP) n.183-1997A>G,NR_003698.1(FAHD2CP) n.183-1997A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 96685021 rs2969475 A G 178 nt VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.7208,G/0.2792;PC=0.001;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:73:0:0:61,57:2075,1862:0.00,177.85:0.00,80.53:0.00,97.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,45.6:0,0:0,0:96,94:51,55:42,23:-,NR_003698.1(FAHD2CP) n.183-1852A>G:-,0.33:-,NOT_FOUND 2 96686723 rs2579515 A G 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.7218,G/0.2782;PC=0.001;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,G:16:16:0:0:11,5:354,159:0.00,13.97:0.00,13.97:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:2.4,39.0:0,0:0,0:52,23:99,127:35,21:-,NR_003698.1(FAHD2CP) n.183-150A>G:-,0.33:-,NOT_FOUND 2 96687426 rs200675258 CTG C 309 nt VT=DEL;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTG,C:118:36:0:101:19,99:571,2858:0.00,308.75:0.00,77.77:0.00,230.98:0.00,1.00:0.00,1.00:0.00,1.00:51,52:7.9,9.5:0,2:0,0:145,111:1,40:1,23:-,NR_003698.1(FAHD2CP) n.389+214_389+215delTG:-,NOT_FOUND:-,NOT_FOUND 2 96687429 rs199741104 C G 374 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=NA;Gene=FAHD2CP/NR_003698.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,D:105:27:0:1:104,1:3249,15:373.57,0.28:76.37,0.00:297.20,0.28:1.00,0.00:1.00,0.00:1.00,0.00:52,40:8.6,116.0:102,1:0,0:107,110:43,40:24,0:NR_003698.1(FAHD2CP) n.389+216C>G,NR_003698.1(FAHD2CP) n.389+216C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 96688024 . C . . NT END=96688415;NT GT ./. 2 96688472 . C . . NT END=96688507;NT GT ./. 2 96689189 . C . . NT END=96689670;NT GT ./. 2 96689334 rs2969473 G C 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.8205,C/0.1795;Gene=GPAT2/NM_207328.2/1;CC=c.1897-146C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:28:1:0:0:14,13,1:416,367,10:40.12,0.00,0.08:-0.30,0.00,-0.02:40.42,0.00,0.10:1.00,0.00,0.00:0.67,0.00,0.00:1.00,0.00,0.00:44,49,40:31.2,19.3,109.0:0,0,0:0,0,0:102,91,114:49,60,33:21,27,0:NM_207328.2(GPAT2) c.1897-146C>G,-:0.22,-:NOT_FOUND,- 2 96689749 . C . . NT END=96689936;NT GT ./. 2 96690086 . C . . NT END=96690174;NT GT ./. 2 96690434 . C . . NT END=96690520;NT GT ./. 2 96690592 . C . . NT END=96691232;NT GT ./. 2 96691352 . C . . NT END=96691677;NT GT ./. 2 96691761 . C . . NT END=96691930;NT GT ./. 2 96692054 . C . . NT END=96692444;NT GT ./. 2 96692658 . C . . NT END=96692754;NT GT ./. 2 96692855 . C . . NT END=96693166;NT GT ./. 2 96693301 . C . . NT END=96693738;NT GT ./. 2 96693839 . C . . NT END=96696153;NT GT ./. 2 96696283 . C . . NT END=96696491;NT GT ./. 2 96696597 . C . . NT END=96697008;NT GT ./. 2 96697083 . C . . NT END=96697780;NT GT ./. 2 96697895 . C . . NT END=96698044;NT GT ./. 2 96698126 rs200882167 T C 43 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;Gene=GPAT2/NM_207328.2/1;CC=c.-19A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:75:33:0:0:18,1,56:522,14,1836:42.97,-0.03,0.00:-2.50,0.17,0.00:45.47,-0.20,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,27,50:34.1,34.0,21.2:0,0,0:0,0,0:130,147,77:21,3,68:15,0,42:NM_207328.2(GPAT2) c.-19A>G,-:0.21,-:NOT_FOUND,- 2 96698168 . C . . NT END=96779616;NT GT ./. 2 96698185 rs62155523 G A 128 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.5495,A/0.4505;NP=581;Gene=GPAT2/NM_207328.2/1;CC=c.-60-18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:43:15:0:0:38,5:1163,171:127.63,0.00:33.61,0.00:94.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,27:39.7,2.6:0,0:0,0:88,40:55,111:21,19:NM_207328.2(GPAT2) c.-60-18C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 96780122 rs4907299 G T 210 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.6665,T/0.3335;Gene=ADRA2B/NM_000682.6/1;CC=c.*423C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:103:67:0:0:1,37,65:10,1147,2082:-0.06,0.00,210.19:-0.08,0.00,103.29:0.02,0.00,106.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:165.0,16.2,38.6:0,0,1:0,0,0:52,82,73:95,56,78:0,41,42:-,NM_000682.5(ADRA2B) c.*423C>A:-,0.38:-,NOT_FOUND 2 96780716 rs2229169 T G 180 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.2947,A/.,G/0.7053;Gene=ADRA2B/NM_000682.6/1;CC=c.1173A>C;ProtCh=p.G391=;VC=Silent;DM=ADRA2B/7tm_1;DM=ADRA2B/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:132:88:0:0:1,59,72:14,1910,2318:-0.05,179.91,0.00:-0.14,80.50,0.00:0.08,99.41,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:160.0,38.7,16.2:0,0,0:0,0,0:149,70,63:2,80,84:0,29,42:NM_000682.5(ADRA2B) c.1182A>C (p.(=)),-:0.67,-:0.704696,- 2 96780986 rs4426564 C CTCCTCCTCT 127 PASS VT=INS;SST=Single;DP=156;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.026;Gene=ADRA2B/NM_000682.6/1;CC=c.902_903insAGAGGAGGA;ProtCh=p.E306_C307insEEE;VC=InFrameIns;DM=ADRA2B/7tm_1;DM=ADRA2B/7tm_1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,CTCCTCCTCT:155:103:47:0:1,107,1,46:11,3485,6,1491:-0.20,0.00,-0.26,127.04:-0.05,0.00,-0.11,75.66:-0.14,0.00,-0.14,51.38:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:126.0,12.5,21.0,5.5:0,0,0,1:0,0,0,0:82,83,128,52:55,63,12,99:0,41,0,24:-,NM_000682.5(ADRA2B) c.903_911dupAGAGGAGGA (p.Glu298[15]):-,NOT_FOUND:-,0.703338 2 96781889 . G . . NT END=96789588;NT GT ./. 2 96781986 rs3111873 G C 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.2638,C/0.7362 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:35:2:0:0:20,15:550,409:54.06,0.00:1.58,0.00:52.48,0.00:1.00,0.00:0.85,0.00:1.00,0.00:60,60:34.0,19.5:0,0:0,0:104,122:47,29:36,28:NM_000682.5(ADRA2B) c.1-u98C>G,-:0.69,-:NOT_FOUND,- 2 96789787 rs893173 T C 204 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.6705,C/0.3295;Gene=ASTL/NM_001002036.3/1;CC=c.1098A>G;ProtCh=p.L366=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:120:87:0:0:64,56:2095,1798:204.01,0.00:100.22,0.00:103.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,7.3:0,0:0,0:69,75:81,63:38,35:NM_001002036.3(ASTL) c.1098A>G (p.(=)),-:0.36,-:0.340843,- 2 96790011 . C . . NT END=96795562;NT GT ./. 2 96795608 rs1657502 T G 120 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.6158,G/0.3842;PC=0.552;Gene=ASTL/NM_001002036.3/1;CC=c.829A>C;ProtCh=p.K277Q;VC=Missense;DM=ASTL/Astacin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:114:90:0:0:39,75:1330,2375:119.82,0.00:69.59,0.00:50.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,7.7:0,0:0,0:52,70:89,73:19,35:NM_001002036.3(ASTL) c.829A>C (p.Lys277Gln),-:0.42,-:0.339228,- 2 96795714 rs749459 G A 148 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.6212,A/0.3788;PC=0.094;Gene=ASTL/NM_001002036.3/1;CC=c.723C>T;ProtCh=p.L241=;VC=Silent;DM=ASTL/Astacin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:118:77:0:0:48,70:1597,2257:148.02,0.00:80.98,0.00:67.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.4,9.9:0,0:0,0:69,81:79,61:38,29:NM_001002036.3(ASTL) c.723C>T (p.(=)),-:0.42,-:0.340304,- 2 96795718 . C . . NT END=96795802;NT GT ./. 2 96795857 rs749458 T C 191 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.07288,C/0.9271;PC=0.001;Gene=ASTL/NM_001002036.3/1;CC=c.665A>G;ProtCh=p.Q222R;VC=Missense;DM=ASTL/Astacin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:C:57:22:0:0:57:1643:190.96:51.44:139.52:1.00:1.00:1.00:60:44.0:0:0:98:47:26:NM_001002036.3(ASTL) c.665A>G (p.Gln222Arg),NM_001002036.3(ASTL) c.665A>G (p.Gln222Arg):0.89,0.89:0.850531,0.850531 2 96795885 . C . . NT END=96798278;NT GT ./. 2 96795944 rs749457 A G 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6002,G/0.3998;Gene=ASTL/NM_001002036.3/1;CC=c.638-60T>C;VC=Intron;DM=ASTL/Astacin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:3:0:0:8,10:259,268:0.00,26.11:0.00,2.19:0.00,23.91:0.00,1.00:0.00,0.92:0.00,1.00:60,60:37.0,63.8:0,0:0,0:120,123:30,27:21,20:-,NM_001002036.3(ASTL) c.638-60T>C:-,0.44:-,0.358958 2 96798461 . C . . NT END=96799163;NT GT ./. 2 96798510 rs1168966 G A 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.6416,A/0.3584;Gene=ASTL/NM_001002036.3/1;CC=c.456-50C>T;VC=Intron;DM=ASTL/Astacin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:25:0:0:34,26:1112,790:109.59,0.00:22.92,0.00:86.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,4.3:0,0:0,0:110,111:32,36:23,26:NM_001002036.3(ASTL) c.456-50C>T,-:0.41,-:0.31424,- 2 96799282 . C . . NT END=96799703;NT GT ./. 2 96799798 . C . . NT END=96801089;NT GT ./. 2 96801152 . C . . NT END=96803313;NT GT ./. 2 96803440 . C . . NT END=96804120;NT GT ./. 2 96803904 rs2969490 T C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6304,C/0.3696;Gene=ASTL/NM_001002036.3/1;CC=c.55+217A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:9:9:0:0:7,2:211,70:22.36,0.00:22.36,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:82.6,0.0:0,0:0,0:22,22:129,128:16,0:NM_001002036.3(ASTL) c.55+217A>G,-:0.42,-:NOT_FOUND,- 2 96804176 . G . . NT END=96809561;NT GT ./. 2 96809331 rs1724120 T C 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4445,C/0.5555;Gene=DUSP2/NM_004418.3/1;CC=c.*231A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:C,T:9:9:0:0:3,6:80,162:6.94,0.00:6.94,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:60,60:38.0,15.7:0,0:0,0:71,39:80,111:24,15:NM_004418.3(DUSP2) c.*231A>G,-:0.59,-:NOT_FOUND,- 2 96809777 . C . . NT END=96809892;NT GT ./. 2 96810113 . C . . NT END=96810499;NT GT ./. 2 96811094 . G . . NT END=96852467;NT GT ./. 2 96811434 rs2969489 T C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4435,C/0.5565 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:6:2:0:0:3,3:101,90:9.73,0.00:3.33,0.00:6.40,0.00:0.98,0.00:0.79,0.00:0.96,0.00:60,60:51.7,0.0:0,0:0,0:44,104:107,47:17,5:NM_001002036.3(ASTL) c.1-u7259A>G,-:0.59,-:NOT_FOUND,- 2 96852653 . C . . NT END=96852954;NT GT ./. 2 96852842 rs367591402 GA G 11 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=STARD7/NM_020151.3/1;CC=c.928+112delT;VC=Intron;DM=STARD7/START;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:GA,T,I,G:25:8:4:5:16,1,4,4:515,23,121,163:0.00,1.10,9.60,10.70:0.00,-0.08,5.27,-0.36:0.00,1.19,4.33,11.06:0.00,0.00,0.00,0.67:0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.90:60,60,70,60:25.2,46.0,5.8,10.2:0,0,0,1:0,0,0,0:96,118,64,120:52,32,87,31:31,0,21,9:-,NM_020151.3(STARD7) c.928+112delT:-,NOT_FOUND:-,NOT_FOUND 2 96853040 . C . . NT END=96858106;NT GT ./. 2 96858207 . C . . NT END=96858815;NT GT ./. 2 96858899 . C . . NT END=96858979;NT GT ./. 2 96859091 . C . . NT END=96860695;NT GT ./. 2 96860746 . C . . NT END=96861078;NT GT ./. 2 96861288 . C . . NT END=96873882;NT GT ./. 2 96874173 . G . . NT END=96919545;NT GT ./. 2 96919854 . C . . NT END=96920570;NT GT ./. 2 96920736 . C . . NT END=96930875;NT GT ./. 2 96931120 . G . . NT END=96932088;NT GT ./. 2 96931846 rs2301707 T C 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8071,C/0.1929;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:C,T:11:11:0:0:6,5:189,154:18.45,0.00:18.45,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:49.7,13.0:0,0:0,0:61,30:89,121:43,17:NM_004804.2(CIAO1) c.-205-u38T>C,-:0.23,-:NOT_FOUND,- 2 96932228 . G . . NT END=96933058;NT GT ./. 2 96933208 . G . . NT END=96933362;NT GT ./. 2 96933475 . G . . NT END=96933573;NT GT ./. 2 96933663 . G . . NT END=96934194;NT GT ./. 2 96934397 . G . . NT END=96935005;NT GT ./. 2 96934504 rs62153033 T C 56 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.6192,C/0.3808;Gene=CIAO1/NM_004804.2/1;CC=c.691+108T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:0:0:0:17,14:569,425:55.76,0.00:0.00,0.00:55.76,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.1,38.5:0,0:0,0:100,78:51,71:29,29:NM_004804.2(CIAO1) c.691+108T>C,-:0.29,-:NOT_FOUND,- 2 96935094 . G . . NT END=96936848;NT GT ./. 2 96936547 rs531540380 CA C 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CA/0.8013,C/0.1987;PC=0.436;Gene=CIAO1/NM_004804.2/1;CC=c.780-283delA;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,CA,C:7:7:0:3:1,3,3:33,102,99:2.73,0.00,9.50:2.77,0.00,9.62:-0.03,0.00,-0.12:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.62:60,60,60:276.0,57.0,9.7:0,0,0:0,0,0:61,56,41:90,94,109:0,39,10:-,NM_004804.2(CIAO1) c.780-301delA:-,NOT_FOUND:-,NOT_FOUND 2 96937090 . G . . NT END=96940749;NT GT ./. 2 96937296 rs1044594 G C 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6192,C/0.3808;Gene=CIAO1/NM_004804.2/1;CC=c.*207G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:14:0:0:0:8,6:255,202:25.12,0.00:0.00,0.00:25.12,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.8,1.8:0,0:0,0:121,110:29,41:18,11:NM_004804.2(CIAO1) c.*207G>C,-:0.29,-:NOT_FOUND,- 2 96940894 . C . . NT END=96940994;NT GT ./. 2 96941088 . C . . NT END=96942641;NT GT ./. 2 96942724 . C . . NT END=96942818;NT GT ./. 2 96942980 . C . . NT END=96943276;NT GT ./. 2 96943454 . C . . NT END=96943544;NT GT ./. 2 96943473 rs3214063 T C 150 nt VT=SNV;PN=A;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.6106,C/0.3894;Gene=SNRNP200/NM_014014.4/1;CC=c.5755-20A>G;VC=Intron;DM=SNRNP200/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:125:82:0:0:49,76:1626,2434:149.63,0.00:73.23,0.00:76.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,7.6:0,0:0,0:63,55:85,85:41,30:NM_014014.4(SNRNP200) c.5755-20A>G,-:0.3,-:0.338382,- 2 96943689 . C . . NT END=96943974;NT GT ./. 2 96944097 . C . . NT END=96944284;NT GT ./. 2 96944450 . C . . NT END=96944546;NT GT ./. 2 96944553 rs772175 G A 159 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.754,A/0.246;PC=1.000;Gene=SNRNP200/NM_014014.4/1;CC=c.5317C>T;ProtCh=p.L1773=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:93:54:0:0:50,43:1635,1434:159.46,0.00:71.86,0.00:87.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,10.7:0,0:0,0:46,88:88,61:33,39:NM_014014.4(SNRNP200) c.5317C>T (p.(=)),-:0.31,-:0.251961,- 2 96944737 . C . . NT END=96945188;NT GT ./. 2 96945298 . C . . NT END=96947551;NT GT ./. 2 96947661 . C . . NT END=96948938;NT GT ./. 2 96947729 . G A 70 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;Gene=SNRNP200/NM_014014.4/1;CC=c.4916-69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:10:0:0:22,20:720,645:69.84,0.00:3.35,0.00:66.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,5.8:0,0:0,0:103,113:47,37:31,19:NM_014014.4(SNRNP200) c.4916-69C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 96949091 . C . . NT END=96949272;NT GT ./. 2 96949452 . C . . NT END=96949550;NT GT ./. 2 96949743 . C . . NT END=96950095;NT GT ./. 2 96950324 . C . . NT END=96950917;NT GT ./. 2 96950487 rs71791481 C CT 9 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6366,CT/0.3634;NP=8;Gene=SNRNP200/NM_014014.4/1;CC=c.4165-165_4165-164insA;VC=Intron;DM=SNRNP200/DEAD;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,CT,D:8:0:4:1:4,3,1:115,123,33:0.00,8.90,2.62:0.00,0.00,0.00:0.00,8.90,2.62:0.00,0.64,0.00:0.00,0.00,0.00:0.00,0.64,0.00:60,60,60:14.5,16.0,0.0:0,1,0:0,0,0:117,114,112:32,34,38:18,6,0:-,NM_014014.4(SNRNP200) c.4165-165_4165-164insA:-,NOT_FOUND:-,NOT_FOUND 2 96951079 . C . . NT END=96952048;NT GT ./. 2 96952223 . C . . NT END=96952425;NT GT ./. 2 96952616 . C . . NT END=96952743;NT GT ./. 2 96952833 rs3171927 A G 120 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.7159,G/0.2841;PC=0.980;Gene=SNRNP200/NM_014014.4/1;CC=c.3550T>C;ProtCh=p.L1184=;VC=Silent;DM=SNRNP200/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:84:48:0:0:44,1,39:1398,9,1261:0.00,-0.14,119.73:0.00,-0.11,46.07:0.00,-0.03,73.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.5,86.0,41.3:0,0,0:0,0,0:87,126,84:57,24,60:37,0,41:-,NM_014014.4(SNRNP200) c.3550T>C (p.(=)):-,0.2:-,0.23566 2 96952899 . C . . NT END=96953176;NT GT ./. 2 96953296 . C . . NT END=96953600;NT GT ./. 2 96953708 . C . . NT END=96954400;NT GT ./. 2 96954485 . C . . NT END=96954774;NT GT ./. 2 96954856 . C . . NT END=96954964;NT GT ./. 2 96955118 . C . . NT END=96955536;NT GT ./. 2 96955480 rs3214058 T C 70 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=SNRNP200/NM_014014.4/1;CC=c.2940+57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:50:0:0:23,29:746,945:70.04,0.00:61.85,0.00:8.20,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:45.8,4.6:0,0:0,0:24,53:125,98:9,25:NM_014014.4(SNRNP200) c.2940+57A>G,-:0.3,-:NOT_FOUND,- 2 96955735 . C . . NT END=96956063;NT GT ./. 2 96956253 . C . . NT END=96956421;NT GT ./. 2 96956315 rs772176 T G 243 nt VT=SNV;PN=G;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.002796,G/0.9972;NP=3479;PC=0.006;Gene=SNRNP200/NM_014014.4/1;CC=c.2554-63A>C;VC=Intron;DM=SNRNP200/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:67:49:0:0:67:2109:242.71:153.61:89.11:1.00:1.00:1.00:60:37.7:0:0:62:87:38:NM_014014.4(SNRNP200) c.2554-63A>C,NM_014014.4(SNRNP200) c.2554-63A>C:1,1:NOT_FOUND,NOT_FOUND 2 96956554 . C . . NT END=96957129;NT GT ./. 2 96957241 . C . . NT END=96957488;NT GT ./. 2 96957639 . C . . NT END=96958709;NT GT ./. 2 96958834 . C . . NT END=96959053;NT GT ./. 2 96959248 . C . . NT END=96961225;NT GT ./. 2 96961397 . C . . NT END=96962273;NT GT ./. 2 96962430 . C . . NT END=96962670;NT GT ./. 2 96962809 . C . . NT END=96963100;NT GT ./. 2 96962859 rs17479466 A G 111 nt VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.61,G/0.39;Gene=SNRNP200/NM_014014.4/1;CC=c.1378-51T>C;VC=Intron;DM=SNRNP200/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:31:0:0:34,34:1049,1148:0.00,110.59:0.00,28.87:0.00,81.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,37.4:0,0:0,0:94,112:51,35:29,17:-,NM_014014.4(SNRNP200) c.1378-51T>C:-,0.3:-,0.334999 2 96963275 . C . . NT END=96963374;NT GT ./. 2 96963459 . C . . NT END=96964021;NT GT ./. 2 96963684 rs772178 A G 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.754,G/0.246;Gene=SNRNP200/NM_014014.4/1;CC=c.1120-226T>C;VC=Intron;DM=SNRNP200/Sec63 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,G:13:2:0:0:5,8:165,273:0.00,27.35:0.00,3.35:0.00,24.00:0.00,1.00:0.00,0.88:0.00,1.00:60,60:5.2,38.4:0,0:0,0:89,85:62,65:22,47:-,NM_014014.4(SNRNP200) c.1120-226T>C:-,0.31:-,NOT_FOUND 2 96964159 . C . . NT END=96964340;NT GT ./. 2 96964441 . C . . NT END=96964552;NT GT ./. 2 96964706 . C . . NT END=96965066;NT GT ./. 2 96965166 . C . . NT END=96966735;NT GT ./. 2 96966456 rs62153898 C G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6891,G/0.3109;Gene=SNRNP200/NM_014014.4/1;CC=c.630+280G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,G:6:5:0:0:3,3:99,90:0.00,8.62:0.00,8.92:0.00,-0.30:0.00,0.98:0.00,0.96:0.00,0.67:60,60:52.3,54.7:0,0:0,0:50,79:100,72:10,3:-,NM_014014.4(SNRNP200) c.630+280G>C:-,0.23:-,NOT_FOUND 2 96966661 rs3731930 G C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.6184,C/0.3816;Gene=SNRNP200/NM_014014.4/1;CC=c.630+75C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:20:0:0:8,12:263,403:24.27,0.00:24.71,0.00:-0.44,0.00:0.99,0.00:0.99,0.00:0.87,0.00:60,60:39.6,9.5:0,0:0,0:59,62:92,88:31,33:NM_014014.4(SNRNP200) c.630+75C>G,-:0.29,-:NOT_FOUND,- 2 96966792 . C . . NT END=96967261;NT GT ./. 2 96967455 . C . . NT END=96968896;NT GT ./. 2 96969069 . C . . NT END=96970442;NT GT ./. 2 96970607 . C . . NT END=96971130;NT GT ./. 2 96971176 . G . . NT END=96991577;NT GT ./. 2 96971355 rs2276648 T C 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.613,C/0.387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:0:0:0:12,12:351,399:33.60,0.00:0.00,0.00:33.60,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.7,1.8:0,0:0,0:104,95:47,55:32,27:NM_014014.4(SNRNP200) c.-132-u48A>G,-:0.3,-:NOT_FOUND,- 2 96971409 rs2276649 A G 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6248,G/0.3752 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:0:0:0:9,7:245,238:0.00,22.41:0.00,0.00:0.00,22.41:0.00,0.98:0.00,0.00:0.00,0.98:60,60:6.1,62.3:0,0:0,0:92,119:57,32:39,16:-,NM_014014.4(SNRNP200) c.-132-u102T>C:-,0.28:-,NOT_FOUND 2 96991492 rs772174 A G 148 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.1915,G/0.8085;PC=0.653;Gene=ITPRIPL1/NM_001008949.2/1;CC=c.-86A>G;VC=5UTR;Gene=ITPRIPL1/NM_001163523.1/0;CC=c.-15+189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:G:40:37:0:0:40:1290:148.02:114.03:33.99:1.00:1.00:1.00:60:42.8:0:0:56:94:24:NM_178495.5(ITPRIPL1) c.-411-u443A>G,NM_178495.5(ITPRIPL1) c.-411-u443A>G:0.78,0.78:0.682216,0.682216 2 96991588 . G . . NT END=96991934;NT GT ./. 2 96993757 rs2279105 C T 123 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.6394,T/0.3606;PC=0.142;Gene=ITPRIPL1/NM_001008949.2/1;CC=c.1388C>T;ProtCh=p.T463M;VC=Missense;Gene=ITPRIPL1/NM_001163523.1/0;CC=c.1364C>T;ProtCh=p.T455M;VC=Missense;Gene=ITPRIPL1/NM_178495.5/0;CC=c.1412C>T;ProtCh=p.T471M;VC=Missense;Gene=ITPRIPL1/NM_001163524.1/0;CC=c.1364C>T;ProtCh=p.T455M;VC=Missense;DM=ITPRIPL1/Mab-21;DM=ITPRIPL1/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:94:54:0:0:54,40:1626,1314:0.00,122.68:0.00,53.93:0.00,68.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,42.5:0,0:0,0:84,62:60,62:29,48:-,NM_178495.5(ITPRIPL1) c.1412C>T (p.Thr471Met):-,0.27:-,0.306166 2 96993884 rs1048675 A G 116 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.62,C/.,G/0.38;PC=0.012;Gene=ITPRIPL1/NM_001008949.2/1;CC=c.1515A>G;ProtCh=p.P505=;VC=Silent;Gene=ITPRIPL1/NM_001163523.1/0;CC=c.1491A>G;ProtCh=p.P497=;VC=Silent;Gene=ITPRIPL1/NM_178495.5/0;CC=c.1539A>G;ProtCh=p.P513=;VC=Silent;Gene=ITPRIPL1/NM_001163524.1/0;CC=c.1491A>G;ProtCh=p.P497=;VC=Silent;DM=ITPRIPL1/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:51:0:0:43,39:1371,1216:0.00,115.52:0.00,61.43:0.00,54.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,40.2:0,0:0,0:70,76:81,75:44,37:-,NM_178495.5(ITPRIPL1) c.1539A>G (p.(=)):-,0.29:-,0.317546 2 96994038 . T . . NT END=97001567;NT GT ./. 2 97001587 . G . . NT END=97007379;NT GT ./. 2 97007633 . G . . NT END=97007787;NT GT ./. 2 97007879 . G . . NT END=97008493;NT GT ./. 2 97008587 . G . . NT END=97008903;NT GT ./. 2 97009043 . G . . NT END=97009842;NT GT ./. 2 97009968 . G . . NT END=97017568;NT GT ./. 2 97017678 rs146970496 C T 109 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.9992,T/0.0007987;NP=11;PC=1.000;Gene=NCAPH/NM_001281710.1/0;CC=c.797C>T;ProtCh=p.P266L;VC=Missense;Gene=NCAPH/NM_001281711.1/1;CC=c.758C>T;ProtCh=p.P253L;VC=Missense;Gene=NCAPH/NM_001281712.1/0;CC=c.422C>T;ProtCh=p.P141L;VC=Missense;Gene=NCAPH/NM_015341.4/0;CC=c.830C>T;ProtCh=p.P277L;VC=Missense;DM=NCAPH/Cnd2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:59:38:0:0:1,25,33:10,798,1105:-0.03,0.00,109.00:-0.08,0.00,60.16:0.06,0.00,48.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:36.0,0.9,38.6:0,0,0:0,0,0:119,78,85:29,65,65:0,39,22:-,NM_015341.3(NCAPH) c.830C>T (p.Pro277Leu):-,0.0014:-,0.001615 2 97017759 . G . . NT END=97019043;NT GT ./. 2 97019136 . G . . NT END=97019920;NT GT ./. 2 97020049 rs3731935 T C 162 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.7208,C/0.2792;PC=0.998;Gene=NCAPH/NM_001281710.1/0;CC=c.1098T>C;ProtCh=p.D366=;VC=Silent;Gene=NCAPH/NM_001281711.1/1;CC=c.1059T>C;ProtCh=p.D353=;VC=Silent;Gene=NCAPH/NM_001281712.1/0;CC=c.723T>C;ProtCh=p.D241=;VC=Silent;Gene=NCAPH/NM_015341.4/0;CC=c.1131T>C;ProtCh=p.D377=;VC=Silent;DM=NCAPH/Cnd2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:130:100:0:0:54,76:1744,2423:161.83,0.00:86.05,0.00:75.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,5.3:0,0:0,0:94,67:53,78:31,42:NM_015341.3(NCAPH) c.1131T>C (p.(=)),-:0.2,-:0.2169,- 2 97020127 . G . . NT END=97024782;NT GT ./. 2 97020170 rs3731936 A C 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.721,C/0.279;Gene=NCAPH/NM_001281710.1/0;CC=c.1175+44A>C;VC=Intron;Gene=NCAPH/NM_001281711.1/1;CC=c.1136+44A>C;VC=Intron;Gene=NCAPH/NM_001281712.1/0;CC=c.800+44A>C;VC=Intron;Gene=NCAPH/NM_015341.4/0;CC=c.1208+44A>C;VC=Intron;DM=NCAPH/Cnd2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:79:20:0:0:49,30:1544,920:0.00,83.52:0.00,19.84:0.00,63.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,50.6:0,0:0,0:96,114:55,33:17,15:-,NM_015341.3(NCAPH) c.1208+44A>C:-,0.2:-,0.213945 2 97024932 . G . . NT END=97025880;NT GT ./. 2 97025988 . G . . NT END=97026325;NT GT ./. 2 97026449 . G . . NT END=97030218;NT GT ./. 2 97026576 rs62153915 C T 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6292,T/0.3708;Gene=NCAPH/NM_001281710.1/0;CC=c.1554+128C>T;VC=Intron;Gene=NCAPH/NM_001281711.1/1;CC=c.1515+128C>T;VC=Intron;Gene=NCAPH/NM_001281712.1/0;CC=c.1179+128C>T;VC=Intron;Gene=NCAPH/NM_015341.4/0;CC=c.1587+128C>T;VC=Intron;DM=NCAPH/Cnd2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:2:0:0:10,9:326,269:0.00,25.49:0.00,1.14:0.00,24.35:0.00,1.00:0.00,0.77:0.00,1.00:60,60:1.5,38.7:0,0:0,0:75,111:75,40:46,19:-,NM_015341.3(NCAPH) c.1587+128C>T:-,0.28:-,NOT_FOUND 2 97030247 rs2305935 T C 28 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.619,C/0.381;PC=0.341;Gene=NCAPH/NM_001281710.1/0;CC=c.1583T>C;ProtCh=p.V528A;VC=Missense;Gene=NCAPH/NM_001281711.1/1;CC=c.1544T>C;ProtCh=p.V515A;VC=Missense;Gene=NCAPH/NM_001281712.1/0;CC=c.1208T>C;ProtCh=p.V403A;VC=Missense;Gene=NCAPH/NM_015341.4/0;CC=c.1616T>C;ProtCh=p.V539A;VC=Missense;DM=NCAPH/Cnd2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:26:0:0:10,18:314,550:28.23,0.00:20.23,0.00:8.00,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:35.5,8.3:0,0:0,0:44,50:102,87:15,18:NM_015341.3(NCAPH) c.1616T>C (p.Val539Ala),-:0.29,-:0.317546,- 2 97030330 . G . . NT END=97031613;NT GT ./. 2 97031797 . G . . NT END=97032994;NT GT ./. 2 97033112 . G . . NT END=97034709;NT GT ./. 2 97034802 . G . . NT END=97035162;NT GT ./. 2 97035252 . G . . NT END=97039029;NT GT ./. 2 97039090 . G . . NT END=97163961;NT GT ./. 2 97137357 rs28371782 T C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2839,C/0.7161;NP=100;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:4:3:0:2:2,2:72,69:6.95,0.00:7.40,0.00:-0.45,0.00:0.51,0.00:0.89,0.00:0.79,0.00:60,60:68.0,16.0:0,1:0,0:130,61:19,77:5,55:chr2 g.97137356T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 97164202 . C . . NT END=97164909;NT GT ./. 2 97164487 rs33928971 CT C 17 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CT/0.2708,C/0.7292;NP=3;Gene=NEURL3/NM_001285485.1/0;CC=c.587-305delA;VC=Intron;Gene=NEURL3/NM_001285486.1/1;CC=c.198-305delA;VC=Intron;Gene=NEURL3/NR_104346.1/0;VC=NonCoding;DM=NEURL3/Neuralized;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:5:5:151:17.48:3.68:13.80:1.00:1.00:1.00:60:34.8:0:0:105:46:3:NR_026875.1(NEURL3) n.875-305delA,NR_026875.1(NEURL3) n.875-305delA:0.69,0.69:NOT_FOUND,NOT_FOUND 2 97165030 . A . . NT END=97165090;NT GT ./. 2 97165211 . T . . NT END=97166118;NT GT ./. 2 97166204 rs3731938 A G 549 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.271,G/0.729;PC=1.000;Gene=NEURL3/NM_001285485.1/0;CC=c.486T>C;ProtCh=p.Y162=;VC=Silent;Gene=NEURL3/NM_001285486.1/1;CC=c.12T>C;ProtCh=p.Y4=;VC=Silent;Gene=NEURL3/NR_104346.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:156:128:0:0:156:4755:548.95:317.60:231.35:1.00:1.00:1.00:60:40.1:0:0:55:90:31:NR_026875.1(NEURL3) n.774T>C,NR_026875.1(NEURL3) n.774T>C:0.69,0.69:0.625364,0.625364 2 97166719 . C . . NT END=97170949;NT GT ./. 2 97171070 . C . . NT END=97202563;NT GT ./. 2 97202243 rs2708978 A C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2216,C/0.7784;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:39.2:0:0:25:125:9:NM_212481.1(ARID5A) c.-100-u221A>C,NM_212481.1(ARID5A) c.-100-u221A>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 97202568 . G . . NT END=97203612;NT GT ./. 2 97203442 . T G 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;Gene=ARID5A/NM_212481.1/1;CC=c.4+875T>G;VC=Intron;DM=ARID5A/ARID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:20:0:0:13,7:347,229:35.21,0.00:35.21,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.2,27.3:0,0:0,0:34,20:117,131:11,16:XM_003846325.1(LOC100996535) c.320T>G (p.Leu107Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 97204059 . G . . NT END=97213138;NT GT ./. 2 97213255 . G . . NT END=97215057;NT GT ./. 2 97215197 . G . . NT END=97215489;NT GT ./. 2 97215543 . G . . NT END=97215765;NT GT ./. 2 97216023 . G . . NT END=97216310;NT GT ./. 2 97216471 . G . . NT END=97216835;NT GT ./. 2 97218367 . A . . NT END=97261347;NT GT ./. 2 97261369 . C . . NT END=97263817;NT GT ./. 2 97263898 . C . . NT END=97265389;NT GT ./. 2 97265509 . a . . NT END=97266123;NT GT ./. 2 97265620 rs7593954 C T 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=6;Gene=KANSL3/NR_047658.1/0;VC=NonCoding;Gene=KANSL3/NM_001115016.2/1;CC=c.2616+1760G>A;VC=Intron;Gene=KANSL3/NR_047653.1/0;VC=NonCoding;Gene=KANSL3/NR_047654.1/0;VC=NonCoding;Gene=KANSL3/NR_047655.1/0;VC=NonCoding;Gene=KANSL3/NR_047656.1/0;VC=NonCoding;Gene=KANSL3/NR_047657.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:33.2:0:0:89:62:51:NM_001115016.2(KANSL3) c.2616+1760G>A,NM_001115016.2(KANSL3) c.2616+1760G>A:1,1:NOT_FOUND,NOT_FOUND 2 97266660 . c . . NT END=97267009;NT GT ./. 2 97267260 rs6759099 G C 138 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.6332,C/0.3668;PC=0.008;Gene=KANSL3/NR_047658.1/0;VC=NonCoding;Gene=KANSL3/NM_001115016.2/1;CC=c.2616+120C>G;VC=Intron;Gene=KANSL3/NR_047653.1/0;VC=NonCoding;Gene=KANSL3/NR_047654.1/0;VC=NonCoding;Gene=KANSL3/NR_047655.1/0;VC=NonCoding;Gene=KANSL3/NR_047656.1/0;VC=NonCoding;Gene=KANSL3/NR_047657.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:105:67:0:0:1,44,59,1:8,1480,1979,10:-0.20,138.45,0.00,-0.16:-0.12,71.69,0.00,-0.12:-0.07,66.76,0.00,-0.03:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:139.0,67.1,7.8,22.0:0,0,0,0:0,0,0,0:92,69,91,73:59,78,59,77:0,34,34,0:NM_001115016.2(KANSL3) c.2616+120C>G,-:0.3,-:NOT_FOUND,- 2 97267293 rs6749159 T C 123 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.6332,C/0.3668;Gene=KANSL3/NR_047658.1/0;VC=NonCoding;Gene=KANSL3/NM_001115016.2/1;CC=c.2616+87A>G;VC=Intron;Gene=KANSL3/NR_047653.1/0;VC=NonCoding;Gene=KANSL3/NR_047654.1/0;VC=NonCoding;Gene=KANSL3/NR_047655.1/0;VC=NonCoding;Gene=KANSL3/NR_047656.1/0;VC=NonCoding;Gene=KANSL3/NR_047657.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:59:0:0:43,54:1318,1752:123.17,0.00:56.65,0.00:66.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.9,10.4:0,0:0,0:84,81:66,69:33,39:NM_001115016.2(KANSL3) c.2616+87A>G,-:0.3,-:NOT_FOUND,- 2 97267514 . C . . NT END=97267852;NT GT ./. 2 97267644 rs62154845 G A 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.6334,A/0.3666;Gene=KANSL3/NR_047658.1/0;VC=NonCoding;Gene=KANSL3/NM_001115016.2/1;CC=c.2483-131C>T;VC=Intron;Gene=KANSL3/NR_047653.1/0;VC=NonCoding;Gene=KANSL3/NR_047654.1/0;VC=NonCoding;Gene=KANSL3/NR_047655.1/0;VC=NonCoding;Gene=KANSL3/NR_047656.1/0;VC=NonCoding;Gene=KANSL3/NR_047657.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:52:17:0:0:20,1,31:611,14,1035:55.81,0.11,0.00:15.97,0.32,0.00:39.83,-0.20,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.2,52.0,4.5:0,0,0:0,0,0:111,131,110:40,19,34:20,0,29:NM_001115016.2(KANSL3) c.2483-131C>T,-:0.3,-:NOT_FOUND,- 2 97268076 . C . . NT END=97268489;NT GT ./. 2 97268600 . C . . NT END=97269986;NT GT ./. 2 97270118 . C . . NT END=97270515;NT GT ./. 2 97270601 . C . . NT END=97271056;NT GT ./. 2 97271249 . C . . NT END=97272706;NT GT ./. 2 97272785 . C . . NT END=97274244;NT GT ./. 2 97274402 . C . . NT END=97274600;NT GT ./. 2 97274802 . C . . NT END=97275235;NT GT ./. 2 97275300 . C . . NT END=97276462;NT GT ./. 2 97276621 . C . . NT END=97276800;NT GT ./. 2 97276876 . C . . NT END=97278018;NT GT ./. 2 97278091 . C . . NT END=97278198;NT GT ./. 2 97278301 . C . . NT END=97278554;NT GT ./. 2 97278672 . C . . NT END=97279224;NT GT ./. 2 97279357 . C . . NT END=97281228;NT GT ./. 2 97281282 . C . . NT END=97285095;NT GT ./. 2 97285282 . C . . NT END=97285408;NT GT ./. 2 97285500 . C . . NT END=97293658;NT GT ./. 2 97293680 . C . . NT END=97293764;NT GT ./. 2 97294038 . t . . NT END=97297048;NT GT ./. 2 97297281 . C . . NT END=97302657;NT GT ./. 2 97302873 . G . . NT END=97308573;NT GT ./. 2 97308659 . G . . NT END=97312137;NT GT ./. 2 97312191 . G . . NT END=97312800;NT GT ./. 2 97312893 . G . . NT END=97313514;NT GT ./. 2 97313450 rs749949 C G 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.6318,G/0.3682;PC=0.001;Gene=FER1L5/NM_001293083.1/1;CC=c.231-65C>G;VC=Intron;DM=FER1L5/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:35:34:0:0:17,18:507,545:0.00,52.50:0.00,43.31:0.00,9.19:0.00,1.00:0.00,1.00:0.00,0.99:60,60:16.8,36.2:0,0:0,0:74,41:77,109:58,28:-,NM_001113382.1(FER1L5) c.231-65C>G:-,0.3:-,NOT_FOUND 2 97313624 . G . . NT END=97315359;NT GT ./. 2 97315415 . G . . NT END=97315916;NT GT ./. 2 97316027 . G . . NT END=97317628;NT GT ./. 2 97317758 . G . . NT END=97319376;NT GT ./. 2 97319440 . G . . NT END=97326077;NT GT ./. 2 97326109 . G . . NT END=97327061;NT GT ./. 2 97326286 rs4907246 T C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6276,C/0.3724;Gene=FER1L5/NM_001293083.1/1;CC=c.778+178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:C,T:14:0:0:0:9,5:314,164:31.73,0.00:0.00,0.00:31.73,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.1,0.0:0,0:0,0:119,111:32,37:12,2:NM_001113382.1(FER1L5) c.727+178T>C,-:0.31,-:NOT_FOUND,- 2 97327178 . G . . NT END=97327404;NT GT ./. 2 97327529 . G . . NT END=97327951;NT GT ./. 2 97328005 . G . . NT END=97329175;NT GT ./. 2 97329245 . G . . NT END=97334487;NT GT ./. 2 97334532 . G . . NT END=97334622;NT GT ./. 2 97334742 . G . . NT END=97334779;NT GT ./. 2 97334875 . G . . NT END=97335855;NT GT ./. 2 97335985 . G . . NT END=97338813;NT GT ./. 2 97338992 . G . . NT END=97350063;NT GT ./. 2 97339155 rs72545174 C CTG 40 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.1565,CGT/.,CTG/0.8435;NP=465;PC=0.002;Gene=FER1L5/NM_001293083.1/1;CC=c.1669+165_1669+166insGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CTG:25:0:14:0:11,14:345,411:0.00,40.34:0.00,0.00:0.00,40.34:0.00,1.00:0.00,0.00:0.00,1.00:60,70:13.3,12.9:0,0:0,0:132,124:19,26:17,20:-,NM_001113382.1(FER1L5) c.1654+164_1654+165insTG:-,0.8:-,NOT_FOUND 2 97350189 . G . . NT END=97351065;NT GT ./. 2 97350229 rs114200183 C T 127 nt VT=SNV;PN=T;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=C/0.9858,T/0.01418;Gene=FER1L5/NM_001293083.1/1;CC=c.1794+41C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:93:45:0:0:51,42:1693,1351:0.00,127.35:0.00,39.77:0.00,87.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,37.0:0,0:0,0:78,85:73,58:27,31:-,NM_001113382.1(FER1L5) c.1779+41C>T:-,0.02:-,0.03548 2 97351167 . G . . NT END=97351676;NT GT ./. 2 97351840 rs7599598 A G 278 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=198;DB;DBA=NA;PAF=A/0.4952,G/0.5048;Gene=FER1L5/NM_001293083.1/1;CC=c.2059A>G;ProtCh=p.T687A;VC=Missense;DM=FER1L5/FerB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:198:136:0:0:106,92:3418,2937:0.00,278.09:0.00,139.86:0.00,138.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,39.7:0,0:0,0:88,77:58,68:33,34:-,NM_001113382.1(FER1L5) c.2044A>G (p.Thr682Ala):-,0.51:-,0.53088 2 97351855 . G . . NT END=97351931;NT GT ./. 2 97352088 . G . . NT END=97353552;NT GT ./. 2 97353685 . G . . NT END=97354949;NT GT ./. 2 97353725 rs868168 G A 161 nt VT=SNV;PN=C;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.8093,A/0.1907;Gene=FER1L5/NM_001293083.1/1;CC=c.2361+41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:98:53:0:0:50,1,47:1660,14,1427:160.67,0.03,0.00:53.41,-0.07,0.00:107.26,0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.8,221.0,21.0:0,0,0:0,0,0:94,105,103:54,46,44:26,0,23:NM_001113382.1(FER1L5) c.2346+41G>A,-:0.23,-:0.240911,- 2 97355114 . G . . NT END=97355380;NT GT ./. 2 97355496 . G . . NT END=97356223;NT GT ./. 2 97356321 . G . . NT END=97356926;NT GT ./. 2 97357091 . G . . NT END=97357181;NT GT ./. 2 97357350 . G . . NT END=97357459;NT GT ./. 2 97357701 . G . . NT END=97357840;NT GT ./. 2 97357756 rs368566816 CG C 20 idl,rn VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=3;Gene=FER1L5/NM_001293083.1/1;CC=c.3214+67delG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:CG,G,C:59:47:0:13:49,1,9:1465,14,266:0.00,-0.02,20.05:0.00,-0.29,15.93:0.00,0.27,4.12:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.85:60,60,60:17.4,97.0,22.6:0,0,0:0,0,0:88,67,32:62,48,119:53,0,20:-,NM_001113382.1(FER1L5) c.3295+57delG:-,NOT_FOUND:-,NOT_FOUND 2 97357919 . G . . NT END=97359242;NT GT ./. 2 97359425 . G . . NT END=97359647;NT GT ./. 2 97359442 rs12466906 G C 136 nt VT=SNV;PN=A;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.9862,C/0.01378;PC=0.004;Gene=FER1L5/NM_001293083.1/1;CC=c.3474+18G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:90:46:0:0:44,46:1426,1586:136.43,0.00:61.82,0.00:74.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.7,9.7:0,0:0,0:90,103:59,42:25,29:NM_001113382.1(FER1L5) c.3555+18G>C,-:0.02,-:0.040517,- 2 97359810 . G . . NT END=97360096;NT GT ./. 2 97360079 rs72809820 C T 89 nt VT=SNV;PN=G;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.7947,T/0.2053;Gene=FER1L5/NM_001293083.1/1;CC=c.3637-18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:52:0:0:34,31:1141,934:0.00,88.60:0.00,56.01:0.00,32.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,46.8:0,0:0,0:60,44:81,106:38,23:-,NM_001113382.1(FER1L5) c.3718-18C>T:-,0.23:-,0.240035 2 97360202 . G . . NT END=97361245;NT GT ./. 2 97361399 . G . . NT END=97361478;NT GT ./. 2 97361642 . G . . NT END=97361788;NT GT ./. 2 97361815 . G . . NT END=97363262;NT GT ./. 2 97363314 . G . . NT END=97363396;NT GT ./. 2 97363499 . G . . NT END=97363773;NT GT ./. 2 97363894 . G . . NT END=97364407;NT GT ./. 2 97364570 . G . . NT END=97364781;NT GT ./. 2 97364874 . G . . NT END=97365286;NT GT ./. 2 97365458 . G . . NT END=97365668;NT GT ./. 2 97365818 . G . . NT END=97366068;NT GT ./. 2 97366209 . G . . NT END=97367691;NT GT ./. 2 97366303 rs2280355 A G 85 nt VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.3468,G/0.6532;Gene=FER1L5/NM_001293083.1/1;CC=c.5070+95A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:54:11:0:0:24,29,1:798,871,7:0.00,85.05,-0.12:0.00,11.59,-0.02:0.00,73.46,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.6,36.9,116.0:0,0,0:0,0,0:123,116,118:27,35,33:17,21,0:-,NM_001113382.1(FER1L5) c.5151+95A>G:-,0.71:-,NOT_FOUND 2 97367781 . G . . NT END=97368015;NT GT ./. 2 97368139 . G . . NT END=97368336;NT GT ./. 2 97368479 . G . . NT END=97368714;NT GT ./. 2 97368815 . G . . NT END=97368889;NT GT ./. 2 97369084 . G . . NT END=97369259;NT GT ./. 2 97369370 . G . . NT END=97369951;NT GT ./. 2 97369546 . CT C 7 idl,rn VT=DEL;SST=Single;DP=11;PC=0.014;Gene=FER1L5/NM_001293083.1/1;CC=c.5801+200delT;VC=Intron;DM=FER1L5/Ferlin_C;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CT,I,C:9:1:3:4:4,2,3:134,74,114:0.00,3.93,7.28:0.00,-0.09,-0.14:0.00,4.02,7.42:0.00,0.00,0.60:0.00,0.00,0.52:0.00,0.00,0.93:60,60,60:89.8,126.5,12.3:0,1,1:0,0,0:130,91,99:19,60,51:12,8,21:-,NM_001113382.1(FER1L5) c.5909+178delT:-,NOT_FOUND:-,NOT_FOUND 2 97370100 . G . . NT END=97370204;NT GT ./. 2 97370430 . T . . NT END=97372992;NT GT ./. 2 97373136 . C . . NT END=97373450;NT GT ./. 2 97373571 . C . . NT END=97377392;NT GT ./. 2 97373817 rs56351161 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7861,A/0.2139;PC=0.566;Gene=LMAN2L/NM_001142292.1/1;CC=c.818-247C>T;VC=Intron;Gene=LMAN2L/NM_030805.3/0;CC=c.785-247C>T;VC=Intron;Gene=LMAN2L/NR_024518.1/0;VC=NonCoding;Gene=LMAN2L/NR_024519.1/0;VC=NonCoding;Gene=LMAN2L/NR_024520.1/0;VC=NonCoding;Gene=LMAN2L/NR_024521.1/0;VC=NonCoding;DM=LMAN2L/Lectin_leg-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,C,G:8:0:0:0:4,1,3:129,12,95:12.70,0.64,0.00:0.00,0.00,0.00:12.70,0.64,0.00:0.87,0.00,0.00:0.00,0.00,0.00:0.87,0.00,0.00:60,60,60:32.2,112.0,18.0:0,0,0:0,0,0:87,19,133:60,132,18:27,0,10:NM_001142292.1(LMAN2L) c.818-247C>T,-:0.24,-:NOT_FOUND,- 2 97377508 . C . . NT END=97377600;NT GT ./. 2 97377763 . C . . NT END=97378843;NT GT ./. 2 97378877 . C . . NT END=97399255;NT GT ./. 2 97399339 . C . . NT END=97400145;NT GT ./. 2 97400264 . C . . NT END=97403685;NT GT ./. 2 97400324 rs6727384 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5739,G/0.4261;Gene=LMAN2L/NM_001142292.1/1;CC=c.307-61T>C;VC=Intron;Gene=LMAN2L/NM_030805.3/0;CC=c.307-61T>C;VC=Intron;Gene=LMAN2L/NR_024518.1/0;VC=NonCoding;Gene=LMAN2L/NR_024519.1/0;VC=NonCoding;Gene=LMAN2L/NR_024520.1/0;VC=NonCoding;Gene=LMAN2L/NR_024521.1/0;VC=NonCoding;DM=LMAN2L/Lectin_leg-like;DM=LMAN2L/Lectin_leg-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:16:5:0:0:11,5:340,147:0.00,12.76:0.00,2.85:0.00,9.91:0.00,0.88:0.00,0.84:0.00,0.99:60,60:4.7,36.4:0,0:0,0:64,74:87,74:43,18:-,NM_001142292.1(LMAN2L) c.307-61T>C:-,0.44:-,NOT_FOUND 2 97403805 . C . . NT END=97405590;NT GT ./. 2 97405440 rs2271893 G A 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.845,A/0.155;Gene=LMAN2L/NM_001142292.1/1;CC=c.187+151C>T;VC=Intron;Gene=LMAN2L/NM_030805.3/0;CC=c.187+151C>T;VC=Intron;Gene=LMAN2L/NR_024518.1/0;VC=NonCoding;Gene=LMAN2L/NR_024519.1/0;VC=NonCoding;Gene=LMAN2L/NR_024520.1/0;VC=NonCoding;Gene=LMAN2L/NR_024521.1/0;VC=NonCoding;DM=LMAN2L/Lectin_leg-like;DM=LMAN2L/Lectin_leg-like;DM=LMAN2L/Lectin_leg-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:A,G:17:17:0:0:6,11:192,355:17.27,0.00:17.27,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:39.8,6.0:0,0:0,0:52,82:98,69:15,28:NM_001142292.1(LMAN2L) c.187+151C>T,-:0.21,-:NOT_FOUND,- 2 97405778 . C . . NT END=97426736;NT GT ./. 2 97405967 rs567378467 GC G 12 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=32;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:GC,I,G:12:1:4:4:4,4,4:133,125,131:0.00,11.80,12.40:0.00,1.70,0.00:0.00,10.10,12.40:0.00,0.00,0.80:0.00,0.00,0.56:0.00,0.00,0.80:60,60,60:15.5,30.2,4.2:0,0,0:0,0,0:144,71,95:6,74,54:2,34,9:-,NM_001142292.1(LMAN2L) c.-36-u155delG:-,NOT_FOUND:-,NOT_FOUND 2 97428139 . G . . NT END=97462748;NT GT ./. 2 97428320 rs72809838 G A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7913,A/0.2087;Gene=CNNM4/NM_020184.3/1;CC=c.1402+182G>A;VC=Intron;DM=CNNM4/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:10:0:0:0:7,3:195,105:20.12,0.00:0.00,0.00:20.12,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:69.3,7.7:0,0:0,0:92,78:38,71:14,8:NM_020184.3(CNNM4) c.1402+182G>A,-:0.24,-:NOT_FOUND,- 2 97428375 rs150546223 C G 7 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9984,G/0.001597;NP=8;PC=0.003;Gene=CNNM4/NM_020184.3/1;CC=c.1402+237C>G;VC=Intron;DM=CNNM4/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,G:7:0:0:0:4,3:129,78:0.00,7.14:0.00,0.00:0.00,7.14:0.00,0.69:0.00,0.00:0.00,0.69:60,60:37.0,86.3:0,0:0,0:133,147:13,4:4,0:-,NM_020184.3(CNNM4) c.1402+237C>G:-,0.0037:-,NOT_FOUND 2 97462893 . G . . NT END=97463249;NT GT ./. 2 97463095 rs1318597 T C 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.5685,C/0.4315;Gene=CNNM4/NM_020184.3/1;CC=c.1547-155T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:21:0:0:17,19:570,567:54.32,0.00:39.84,0.00:14.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,14.5:0,0:0,0:51,65:100,86:36,40:NM_020184.3(CNNM4) c.1547-155T>C,-:0.45,-:NOT_FOUND,- 2 97463385 . G . . NT END=97464793;NT GT ./. 2 97463529 rs7582249 G A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.5703,A/0.4297;Gene=CNNM4/NM_020184.3/1;CC=c.1681+145G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:0:0:0:13,12:427,371:41.38,0.00:0.00,0.00:41.38,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:57.4,4.0:0,0:0,0:92,122:59,28:40,22:NM_020184.3(CNNM4) c.1681+145G>A,-:0.44,-:NOT_FOUND,- 2 97464964 . G . . NT END=97465288;NT GT ./. 2 97465386 . G . . NT END=97466808;NT GT ./. 2 97466872 . G . . NT END=97474297;NT GT ./. 2 97474480 . G . . NT END=97474968;NT GT ./. 2 97475255 . C . . NT END=97482014;NT GT ./. 2 97482098 rs146227689 G C 377 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=227;DB;DBA=NA;PAF=G/0.9954,C/0.004593;NP=2;Gene=CNNM3/NM_017623.4/1;CC=c.84G>C;ProtCh=p.A28=;VC=Silent;Gene=CNNM3/NM_199078.2/0;CC=c.84G>C;ProtCh=p.A28=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:227:150:0:0:124,103:3856,3267:376.86,0.00:184.37,0.00:192.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,10.3:0,0:0,0:69,70:77,74:32,43:NM_017623.4(CNNM3) c.84G>C (p.(=)),-:0.01,-:0.013702,- 2 97483240 . G . . NT END=97490794;NT GT ./. 2 97490939 . G . . NT END=97492569;NT GT ./. 2 97492720 . G . . NT END=97493467;NT GT ./. 2 97493638 . G . . NT END=97493835;NT GT ./. 2 97493933 . G . . NT END=97494303;NT GT ./. 2 97494438 . G . . NT END=97494732;NT GT ./. 2 97495040 . t . . NT END=97497705;NT GT ./. 2 97498747 . C . . NT END=97504084;NT GT ./. 2 97505382 . C . . NT END=97505463;NT GT ./. 2 97505563 . C . . NT END=97505733;NT GT ./. 2 97505833 . C . . NT END=97505968;NT GT ./. 2 97506068 . C . . NT END=97506152;NT GT ./. 2 97506252 . C . . NT END=97506523;NT GT ./. 2 97506650 . C . . NT END=97507796;NT GT ./. 2 97507923 . C . . NT END=97508101;NT GT ./. 2 97508249 . C . . NT END=97509702;NT GT ./. 2 97509730 . G . . NT END=97514037;NT GT ./. 2 97514182 . C . . NT END=97519137;NT GT ./. 2 97519342 . C . . NT END=97520074;NT GT ./. 2 97520179 . C . . NT END=97523624;NT GT ./. 2 97523725 . C . . NT END=97526362;NT GT ./. 2 97527387 . C . . NT END=97527473;NT GT ./. 2 97527632 . C . . NT END=97528917;NT GT ./. 2 97529140 . C . . NT END=97529418;NT GT ./. 2 97529532 . C . . NT END=97529662;NT GT ./. 2 97529886 . C . . NT END=97529974;NT GT ./. 2 97530120 . C . . NT END=97530441;NT GT ./. 2 97530618 . C . . NT END=97530700;NT GT ./. 2 97530853 . C . . NT END=97530940;NT GT ./. 2 97531058 . C . . NT END=97531177;NT GT ./. 2 97531275 . C . . NT END=97531402;NT GT ./. 2 97531502 . C . . NT END=97531603;NT GT ./. 2 97531667 . C . . NT END=97532019;NT GT ./. 2 97532169 . C . . NT END=97533514;NT GT ./. 2 97533658 . G . . NT END=97534219;NT GT ./. 2 97535652 . g . . NT END=97535858;NT GT ./. 2 97536088 . G . . NT END=97536316;NT GT ./. 2 97536477 . C . . NT END=97542036;NT GT ./. 2 97542046 . C . . NT END=97543626;NT GT ./. 2 97543780 . C . . NT END=97544152;NT GT ./. 2 97544231 . C . . NT END=97559662;NT GT ./. 2 97559789 . C . . NT END=97560797;NT GT ./. 2 97560801 rs80341479 G A 136 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.9774,A/0.02256;PC=0.003;Gene=FAM178B/NM_001172667.1/0;CC=c.24C>T;ProtCh=p.L8=;VC=Silent;Gene=FAM178B/NM_016490.4/0;CC=c.-30-1013C>T;VC=Intron;Gene=FAM178B/NM_001122646.2/1;CC=c.1651-1013C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:106:84:0:0:47,59:1453,1988:136.01,0.00:92.29,0.00:43.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,3.0:0,0:0,0:60,65:85,84:29,23:NM_001122646.2(FAM178B) c.1651-1013C>T,-:0.02,-:NOT_FOUND,- 2 97560900 . a . . NT END=97563650;NT GT ./. 2 97563745 rs4243786 T C 129 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=T/0.4095,C/0.5905;Gene=FAM178B/NM_016490.4/0;CC=c.-125A>G;VC=5UTR;Gene=FAM178B/NM_001122646.2/1;CC=c.1651-3957A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:110:89:0:0:42,68:1409,2206:129.18,0.00:75.01,0.00:54.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,9.4:0,0:0,0:78,63:67,76:34,24:NM_001122646.2(FAM178B) c.1651-3957A>G,-:0.51,-:NOT_FOUND,- 2 97563871 . C . . NT END=97568356;NT GT ./. 2 97568445 . C . . NT END=97586901;NT GT ./. 2 97568453 rs11888101 A G 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.6719,G/0.3281;PC=0.036;Gene=FAM178B/NM_001122646.2/1;CC=c.1563-9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:30:0:0:32,15:1032,505:0.00,44.87:0.00,20.06:0.00,24.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,50.7:0,0:0,0:102,99:40,35:21,19:-,NM_001122646.2(FAM178B) c.1563-9T>C:-,0.3:-,NOT_FOUND 2 97587000 . C . . NT END=97587214;NT GT ./. 2 97587049 rs34895357 T C 249 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.3474,C/0.6526;Gene=FAM178B/NM_001122646.2/1;CC=c.1465-50A>G;VC=Intron;Gene=LOC101927053/NR_110209.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:41:0:0:67:2170:248.87:115.23:133.64:1.00:1.00:1.00:60:44.7:0:0:103:46:30:NM_001122646.2(FAM178B) c.1465-50A>G,NM_001122646.2(FAM178B) c.1465-50A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 97587392 . C . . NT END=97589226;NT GT ./. 2 97589321 . C . . NT END=97594942;NT GT ./. 2 97595058 . C . . NT END=97613554;NT GT ./. 2 97595109 rs6725927 T C 171 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.3367,C/0.6633;Gene=FAM178B/NM_001122646.2/1;CC=c.1079-52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:C:48:21:0:0:48:1483:171.15:47.91:123.24:1.00:1.00:1.00:60:36.7:0:0:122:28:19:NM_001122646.2(FAM178B) c.1079-52A>G,NM_001122646.2(FAM178B) c.1079-52A>G:0.72,0.72:0.832457,0.832457 2 97613616 rs1624844 T C 125 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.3367,C/0.6633;PC=0.807;Gene=FAM178B/NM_001122646.2/1;CC=c.1017A>G;ProtCh=p.T339=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:26:0:0:34:1085:124.70:75.40:49.30:1.00:1.00:1.00:60:43.4:0:0:91:51:35:NM_001122646.2(FAM178B) c.1017A>G (p.(=)),NM_001122646.2(FAM178B) c.1017A>G (p.(=)):0.72,0.72:NOT_FOUND,NOT_FOUND 2 97613640 . C . . NT END=97615722;NT GT ./. 2 97613748 rs1623881 C A 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.381,A/0.619;Gene=FAM178B/NM_001122646.2/1;CC=c.994-109G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:0:0:0:15:491:56.25:0.00:56.25:1.00:0.00:1.00:60:41.3:0:0:84:67:28:NM_001122646.2(FAM178B) c.994-109G>T,NM_001122646.2(FAM178B) c.994-109G>T:0.7,0.7:NOT_FOUND,NOT_FOUND 2 97615847 . C . . NT END=97617115;NT GT ./. 2 97615993 rs11900461 C T 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.8788,T/0.1212;PC=0.009;Gene=FAM178B/NM_001122646.2/1;CC=c.993+1123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:15:0:0:30,24:898,772:0.00,72.57:0.00,12.12:0.00,60.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,45.4:0,0:0,0:115,124:35,26:18,14:-,NM_001122646.2(FAM178B) c.993+1123G>A:-,0.11:-,NOT_FOUND 2 97617140 rs1257019 T C 215 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.348,C/0.652;PC=0.005;Gene=FAM178B/NM_001122646.2/1;CC=c.969A>G;ProtCh=p.V323=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:C:56:49:0:0:56:1879:214.58:145.77:68.81:1.00:1.00:1.00:60:61.7:0:0:43:104:28:NM_001122646.2(FAM178B) c.969A>G (p.(=)),NM_001122646.2(FAM178B) c.969A>G (p.(=)):0.71,0.71:NOT_FOUND,NOT_FOUND 2 97617222 . C . . NT END=97626024;NT GT ./. 2 97617227 rs1257018 A G 243 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.3313,G/0.6687;Gene=FAM178B/NM_001122646.2/1;CC=c.888-6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:67:47:0:0:67:2111:242.97:117.80:125.17:1.00:1.00:1.00:60:62.6:0:0:92:52:23:NM_001122646.2(FAM178B) c.888-6T>C,NM_001122646.2(FAM178B) c.888-6T>C:0.73,0.73:0.821507,0.821507 2 97626178 . C . . NT END=97633256;NT GT ./. 2 97633267 rs113319086 G C 105 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.9517,C/0.04832;PC=0.591;Gene=FAM178B/NM_001122646.2/1;CC=c.724C>G;ProtCh=p.P242A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:52:47:0:0:31,21:1059,704:105.43,0.00:64.83,0.00:40.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,6.1:0,0:0,0:49,47:93,104:27,29:NM_001122646.2(FAM178B) c.724C>G (p.Pro242Ala),-:0.05,-:0.08629,- 2 97633365 . C . . NT END=97636452;NT GT ./. 2 97636515 . C . . NT END=97637637;NT GT ./. 2 97637516 rs6714860 T C 169 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.3652,C/0.6348;Gene=FAM178B/NM_001122646.2/1;CC=c.564+122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:46:0:0:46:1477:169.49:167.50:1.99:1.00:1.00:1.00:60:48.2:0:0:56:92:33:NM_001122646.2(FAM178B) c.564+122A>G,NM_001122646.2(FAM178B) c.564+122A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 97637905 rs6715329 T C 687 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=180;DB;DBA=NA;PAF=T/0.3646,C/0.6354;PC=0.988;Gene=FAM178B/NM_001122646.2/1;CC=c.297A>G;ProtCh=p.I99M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:180:84:0:0:180:6015:687.15:242.58:444.57:1.00:1.00:1.00:60:46.7:0:0:94:55:30:NM_001122646.2(FAM178B) c.297A>G (p.Ile99Met),NM_001122646.2(FAM178B) c.297A>G (p.Ile99Met):0.72,0.72:NOT_FOUND,NOT_FOUND 2 97638038 rs1730120 A G 451 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.4016,G/0.5984;Gene=FAM178B/NM_001122646.2/1;CC=c.164T>C;ProtCh=p.V55A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:125:69:0:0:124,1:3930,10:451.28,0.08:186.21,0.00:265.07,0.08:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,110.0:0,0:0,0:82,50:66,100:29,0:NM_001122646.2(FAM178B) c.164T>C (p.Val55Ala),NM_001122646.2(FAM178B) c.164T>C (p.Val55Ala):0.69,0.69:0.830326,0.830326 2 97638060 . C . . NT END=97638274;NT GT ./. 2 97638344 . C . . NT END=97651977;NT GT ./. 2 97652087 . T . . NT END=97749491;NT GT ./. 2 97684996 rs11903914 A C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=14;NP=6;NP=95;PC=0.061 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,C:4:4:0:0:2,2:56,68:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:40,53:14.5,90.0:0,0:0,0:115,18:24,127:16,1:-,chr2 g.97684995A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 97693966 rs530207916 A G 118 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.5567,G/0.4387;DB;DBA=NA;PAF=A/0.5567,AG/0.004593;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:79:40:0:2:43,36:1355,1247:0.00,118.25:0.00,31.66:0.00,86.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.8,45.6:2,0:0,0:82,90:53,60:20,31:-,chr2 g.97693965A>G (intergenic):-,0.51:-,NOT_FOUND 2 97695036 rs116171118 C A 198 nt VT=SNV;PN=C;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=C/0.9519,A/0.04812;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:136:105:0:0:64,70,2:2076,2187,18:197.80,0.00,-0.23:138.57,0.00,-0.17:59.23,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,51:40.9,4.2,80.0:0,0,0:0,0,0:71,61,68:78,88,69:37,38,17:chr2 g.97695035C>A (intergenic),-:0.05,-:NOT_FOUND,- 2 97695225 rs1256988 A C 265 nt VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=2008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:17:0:0:72:2304:264.61:52.66:211.94:1.00:1.00:1.00:59:41.1:0:0:95:54:32:chr2 g.97695224A>C (intergenic),chr2 g.97695224A>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 97747894 rs1257095 T C 294 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.3225,C/0.6775 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:78:62:0:0:78:2565:293.54:180.64:112.90:1.00:1.00:1.00:60:46.0:0:0:81:61:27:chr2 g.97747893T>C (intergenic),chr2 g.97747893T>C (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 2 97747978 rs1257094 C T 142 nt VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.628,T/0.372;PC=0.612 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:49:0:0:44,45:1336,1468:0.00,141.51:0.00,80.51:0.00,61.00:0.00,1.00:0.00,1.00:0.00,1.00:50,40:16.2,53.2:0,0:0,0:54,80:97,70:32,48:-,chr2 g.97747977C>T (intergenic):-,0.42:-,NOT_FOUND 2 97749246 rs397821816 T TC 75 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=327;PC=0.046;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C,TC:22:20:21:0:1,21:33,655:2.43,75.09:2.43,67.47:0.00,7.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,5.5:0,0:0,0:1,65:150,85:0,37:chr2 g.97749246_97749247insC (intergenic),chr2 g.97749246_97749247insC (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 97749407 rs79549240 C T 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=963;Gene=FAHD2B/NM_199336.1/1;CC=c.*85G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:107:0:0:90,20:3047,611:0.00,48.01:0.00,39.93:0.00,8.08:0.00,1.00:0.00,1.00:0.00,0.96:60,41:8.8,65.7:0,0:0,0:45,14:105,136:33,6:-,NM_199336.1(FAHD2B) c.*85G>A:-,NOT_FOUND:-,NOT_FOUND 2 97749417 rs140620633 C T 65 nt VT=SNV;PN=G;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=NA;NP=1555;Gene=FAHD2B/NM_199336.1/1;CC=c.*75G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:119:117:0:0:93,26:3116,801:0.00,65.40:0.00,50.94:0.00,14.46:0.00,1.00:0.00,1.00:0.00,1.00:60,52:8.8,57.5:0,0:0,0:50,18:99,130:32,9:-,NM_199336.1(FAHD2B) c.*75G>A:-,NOT_FOUND:-,NOT_FOUND 2 97749555 . C . . NT END=97749684;NT GT ./. 2 97749773 . C . . NT END=97749905;NT GT ./. 2 97750007 rs145484440 G C 122 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=NA;PC=1.000;Gene=FAHD2B/NM_199336.1/1;CC=c.693C>G;ProtCh=p.H231Q;VC=Missense;DM=FAHD2B/FAA_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:124:63:0:0:42,82:1361,2705:121.65,0.00:41.78,0.00:79.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,10.8:0,0:0,0:97,102:51,34:34,29:NM_199336.1(FAHD2B) c.693C>G (p.His231Gln),-:NOT_FOUND,-:0.000077,- 2 97750015 . C . . NT END=97751435;NT GT ./. 2 97751599 . C . . NT END=97751875;NT GT ./. 2 97751782 rs62155549 T C 117 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.6577,C/0.3423;Gene=FAHD2B/NM_199336.1/1;CC=c.522+94A>G;VC=Intron;DM=FAHD2B/FAA_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:87:66:0:0:1,38,48:10,1241,1449:-0.12,116.61,0.00:-0.06,88.60,0.00:-0.06,28.01,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,44,60:109.0,107.2,30.2:0,0,0:0,0,0:18,53,62:133,97,88:0,29,40:NM_199336.1(FAHD2B) c.522+94A>G,-:0.3,-:NOT_FOUND,- 2 97751783 rs62155550 G A 109 nt VT=SNV;PN=T;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.6579,A/0.3421;PC=0.001;Gene=FAHD2B/NM_199336.1/1;CC=c.522+93C>T;VC=Intron;DM=FAHD2B/FAA_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:66:0:0:38,47:1164,1567:109.07,0.00:87.83,0.00:21.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:109.3,30.7:0,0:0,0:50,68:97,82:28,36:NM_199336.1(FAHD2B) c.522+93C>T,-:0.31,-:NOT_FOUND,- 2 97751786 rs62155551 G A 112 nt VT=SNV;PN=C;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.6653,A/0.3347;Gene=FAHD2B/NM_199336.1/1;CC=c.522+90C>T;VC=Intron;DM=FAHD2B/FAA_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:86:68:0:0:37,48,1:1194,1360,11:111.86,0.00,-0.10:85.08,0.00,-0.04:26.79,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,60,40:107.8,31.6,165.0:0,0,0:0,0,0:56,60,29:94,90,94:29,38,0:NM_199336.1(FAHD2B) c.522+90C>T,-:0.35,-:NOT_FOUND,- 2 97751832 rs1964494 C A 191 nt VT=SNV;PN=G;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.9195,A/0.08047;PC=0.037;Gene=FAHD2B/NM_199336.1/1;CC=c.522+44G>T;VC=Intron;DM=FAHD2B/FAA_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:128:106:0:0:65,62,1:1987,2041,10:191.44,0.00,-0.13:122.05,0.00,-0.07:69.39,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,40:39.1,53.3,165.0:0,0,0:0,0,0:49,46,75:99,101,48:31,33,0:NM_199336.1(FAHD2B) c.522+44G>T,-:0.08,-:0.079656,- 2 97751936 . C . . NT END=97755845;NT GT ./. 2 97752054 rs115507803 T C 95 nt VT=SNV;PN=A;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.9515,C/0.04852;PC=0.004;Gene=FAHD2B/NM_199336.1/1;CC=c.463-119A>G;VC=Intron;DM=FAHD2B/FAA_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:2:0:0:32,30:983,863:94.93,0.00:1.59,0.00:93.35,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:41.2,13.6:0,0:0,0:105,90:46,61:24,37:NM_199336.1(FAHD2B) c.463-119A>G,-:0.05,-:NOT_FOUND,- 2 97756063 . C . . NT END=97757198;NT GT ./. 2 97756975 rs199787470 G C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=76;PC=0.021;Gene=FAHD2B/NM_199336.1/1;CC=c.245+224C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:24:24:0:0:8,15,1:263,483,8:23.66,0.00,-0.07:23.66,0.00,-0.07:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:40,51,44:58.0,2.1,183.0:0,0,0:0,0,0:30,36,81:120,115,66:20,26,0:NM_199336.1(FAHD2B) c.245+224C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97757067 rs200961344 C T 103 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=960;PC=0.001;Gene=FAHD2B/NM_199336.1/1;CC=c.245+132G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:68:0:0:34,34:1089,1069:0.00,102.59:0.00,103.20:0.00,-0.60:0.00,1.00:0.00,1.00:0.00,0.51:51,42:5.5,47.5:0,0:0,0:66,47:84,103:36,25:-,NM_199336.1(FAHD2B) c.245+132G>A:-,NOT_FOUND:-,NOT_FOUND 2 97757347 rs147890593 G A 330 lc VT=SNV;PN=C;NN=G;SST=Single;DP=229;DB;DBA=NA;PAF=G/0.9517,A/0.04832;PC=0.857;Gene=FAHD2B/NM_199336.1/1;CC=c.97C>T;ProtCh=p.R33W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:229:118:0:0:104,125:3485,3814:329.68,0.00:126.04,0.00:203.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,5.7:0,0:0,0:82,93:67,56:30,33:NM_199336.1(FAHD2B) c.97C>T (p.Arg33Trp),-:0.09,-:0.076077,- 2 97757444 . C . . NT END=97779476;NT GT ./. 2 97757509 rs1257084 C T 125 nt VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.6472,T/0.3528;PC=0.056;Gene=FAHD2B/NM_199336.1/1;CC=c.-6-60G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:90:29:0:0:50,40:1610,1327:0.00,124.96:0.00,22.54:0.00,102.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,38.4:0,0:0,0:107,96:42,54:28,25:-,NM_199336.1(FAHD2B) c.-6-60G>A:-,0.45:-,NOT_FOUND 2 97779191 rs191678423 C G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9517,G/0.04832;PC=0.423 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,G:13:13:0:0:4,9:90,160:0.00,16.41:0.00,16.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:41,40:20.0,41.1:0,0:0,0:50,36:101,115:42,31:-,NM_001164315.1(ANKRD36) c.-244-u42C>G:-,0.07:-,NOT_FOUND 2 97779674 . G . . NT END=97783800;NT GT ./. 2 97779745 rs371714411 A G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.011;Gene=ANKRD36/NM_001164315.1/1;CC=c.197+72A>G;VC=Intron;DM=ANKRD36/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:A,G:59:23:0:0:51,8:1493,127:0.00,6.50:0.00,-1.19:0.00,7.70:0.00,0.95:0.00,0.91:0.00,0.99:54,60:25.6,129.5:0,0:0,0:120,51:29,88:13,10:-,NM_001164315.1(ANKRD36) c.197+72A>G:-,NOT_FOUND:-,NOT_FOUND 2 97783657 rs62152980 T C 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6452,C/0.3548;Gene=ANKRD36/NM_001164315.1/1;CC=c.198-144T>C;VC=Intron;DM=ANKRD36/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:28:0:0:16,12:520,362:51.31,0.00:51.31,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:50,50:39.0,10.2:0,0:0,0:32,68:116,81:21,22:NM_001164315.1(ANKRD36) c.198-144T>C,-:0.43,-:NOT_FOUND,- 2 97783831 rs200765455 C T 228 lc VT=SNV;PN=G;NN=C;SST=Single;DP=168;DB;DBA=NA;PAF=C/0.9517,T/0.04832;PC=0.779;Gene=ANKRD36/NM_001164315.1/1;CC=c.228C>T;ProtCh=p.G76=;VC=Silent;DM=ANKRD36/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:168:137:0:0:1,91,76:10,3020,2421:-0.17,0.00,228.39:-0.07,0.00,155.10:-0.10,0.00,73.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,53,51:103.0,7.5,36.4:0,0,0:0,0,0:24,84,53:127,67,97:0,34,28:-,NM_001164315.1(ANKRD36) c.228C>T (p.(=)):-,NOT_FOUND:-,0.074453 2 97783916 . G . . NT END=97784080;NT GT ./. 2 97784255 . G . . NT END=97788623;NT GT ./. 2 97784295 rs62152981 C A 132 nt VT=SNV;PN=G;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.5815,A/0.4185,G/.;NP=2247;Gene=ANKRD36/NM_001164315.1/1;CC=c.486+41C>A;VC=Intron;DM=ANKRD36/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:102:3:0:0:45,57:1405,1795:131.60,0.00:1.38,0.00:130.22,0.00:1.00,0.00:0.84,0.00:1.00,0.00:42,40:41.8,10.1:0,0:0,0:97,89:54,62:31,29:NM_001164315.1(ANKRD36) c.486+41C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97788731 . G . . NT END=97790196;NT GT ./. 2 97790335 . G . . NT END=97792803;NT GT ./. 2 97792872 . G . . NT END=97808376;NT GT ./. 2 97808047 rs62152991 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6104,A/0.3896;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-330G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:10:10:0:0:3,7:95,204:8.29,0.00:8.29,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:56,58:36.0,21.9:0,0:0,0:13,37:138,113:0,13:NM_001164315.1(ANKRD36) c.800-330G>A,-:0.44,-:NOT_FOUND,- 2 97808162 rs71429319 A G 16 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.589;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,G:35:35:0:0:28,7:893,200:0.00,15.74:0.00,15.74:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:58,40:40.6,196.3:0,0:0,0:59,0:92,150:41,0:-,NM_001164315.1(ANKRD36) c.800-215A>G:-,NOT_FOUND:-,NOT_FOUND 2 97808182 rs201677961 T A 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.944;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-195T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:48:48:0:0:14,34:427,1063:36.79,0.00:36.79,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,56:167.0,42.3:0,0:0,0:20,45:128,105:6,33:NM_001164315.1(ANKRD36) c.800-195T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97808198 rs56786098 G A 243 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.3067,A/0.6933;NP=1050;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-179G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:70:0:0:70:2101:243.26:243.26:0.00:1.00:1.00:0.00:49:81.3:0:0:30:117:21:NM_001164315.1(ANKRD36) c.800-179G>A,NM_001164315.1(ANKRD36) c.800-179G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 97808218 rs79070930 A G 125 nt VT=SNV;PN=T;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=804;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-159A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:90:90:0:0:50,39,1:1500,1329,8:0.00,125.04,-0.17:0.00,125.04,-0.17:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:55,48,19:33.4,134.2,172.0:0,0,0:0,0,0:42,26,56:108,125,95:25,15,0:-,NM_001164315.1(ANKRD36) c.800-159A>G:-,NOT_FOUND:-,NOT_FOUND 2 97808229 rs74969160 G A 151 nt VT=SNV;PN=T;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=1229;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-148G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:113:113:0:0:53,58,2:1590,1826,18:150.81,0.00,-0.19:150.81,0.00,-0.19:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:48,55,40:122.9,27.3,122.5:0,0,0:0,0,0:32,42,93:119,108,52:21,28,32:NM_001164315.1(ANKRD36) c.800-148G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97808314 rs200495869 G T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=247;DB;DBA=NA;PAF=NA;NP=1679;PC=0.106;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-63G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G,T:247:226:0:0:1,221,25:10,7498,739:-0.34,0.00,50.99:-0.24,0.00,41.31:-0.10,0.00,9.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,57,55:77.0,31.6,103.5:0,0,0:0,0,0:149,60,83:1,90,68:0,29,17:-,NM_001164315.1(ANKRD36) c.800-63G>T:-,NOT_FOUND:-,NOT_FOUND 2 97808346 rs62153042 T C 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=307;DB;DBA=NA;PAF=NA;NP=938;PC=0.011;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:307:255:0:0:39,1,267:1216,13,8669:89.59,-0.28,0.00:44.62,-0.15,0.00:44.97,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,44,60:105.9,190.0,26.3:0,0,0:0,0,0:75,93,51:76,57,89:38,0,30:NM_001164315.1(ANKRD36) c.800-31T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97808349 rs62153043 T C 309 nt VT=SNV;PN=A;NN=T;SST=Single;DP=311;DB;DBA=NA;PAF=NA;NP=3102;PC=0.043;Gene=ANKRD36/NM_001164315.1/1;CC=c.800-28T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:311:253:0:0:103,1,207:3453,12,6610:308.89,-0.22,0.00:155.60,-0.12,0.00:153.29,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,44,60:100.0,190.0,6.1:0,0,0:0,0,0:50,96,56:101,54,84:38,0,28:NM_001164315.1(ANKRD36) c.800-28T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97808394 rs62153044 C G 323 lc VT=SNV;PN=A;NN=C;SST=Single;DP=329;DB;DBA=NA;PAF=NA;NP=3246;Gene=ANKRD36/NM_001164315.1/1;CC=c.817C>G;ProtCh=p.P273A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:329:201:0:0:221,108:7197,3623:0.00,323.39:0.00,78.12:0.00,245.27:0.00,1.00:0.00,1.00:0.00,1.00:60,43:7.1,107.2:0,0:0,0:84,76:60,72:29,28:-,NM_001164315.1(ANKRD36) c.817C>G (p.Pro273Ala):-,NOT_FOUND:-,NOT_FOUND 2 97808406 . G . . NT END=97808499;NT GT ./. 2 97808429 rs112299457 T G 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=292;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.828+24T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:292:137:0:0:1,33,258:24,1107,8152:0.18,81.83,0.00:-0.11,16.94,0.00:0.29,64.89,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,43,60:34.0,128.7,33.6:0,0,0:0,0,0:53,88,92:98,54,54:0,23,27:NM_001164315.1(ANKRD36) c.828+24T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97808495 rs62153045 C T 90 nt VT=SNV;PN=A;NN=T;SST=Single;DP=182;DB;DBA=NA;PAF=NA;NP=1820;PC=0.016;Gene=ANKRD36/NM_001164315.1/1;CC=c.829-5C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:182:62:0:0:1,144,37:10,4583,1122:-0.26,0.00,90.11:-0.09,0.00,9.44:-0.17,0.00,80.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,43:193.0,7.5,153.7:0,0,0:0,0,0:19,74,122:131,74,28:0,35,24:-,NM_001164315.1(ANKRD36) c.829-5C>T:-,NOT_FOUND:-,NOT_FOUND 2 97808510 rs199920970 G A 62 lc VT=SNV;PN=G;NN=C;SST=Single;DP=171;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.839G>A;ProtCh=p.G280D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:171:53:0:0:28,143:813,4648:61.64,0.00:2.13,0.00:59.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:172.0,8.9:0,0:0,0:117,80:33,70:22,37:NM_001164315.1(ANKRD36) c.839G>A (p.Gly280Asp),-:NOT_FOUND,-:NOT_FOUND,- 2 97808515 rs201265245 G A 54 sb,lc VT=SNV;PN=G;NN=A;SST=Single;DP=161;DB;DBA=NA;PAF=NA;PC=0.132;Gene=ANKRD36/NM_001164315.1/1;CC=c.844G>A;ProtCh=p.E282K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:161:46:0:0:23,138:717,4450:54.02,0.00:-0.73,0.00:54.75,0.00:1.00,0.00:0.99,0.00:1.00,0.00:43,60:182.8,8.5:0,0:0,0:110,82:41,68:19,37:NM_001164315.1(ANKRD36) c.844G>A (p.Glu282Lys),-:NOT_FOUND,-:NOT_FOUND,- 2 97808524 rs202223019 A G 41 sb,lc VT=SNV;PN=T;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.853A>G;ProtCh=p.I285V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:148:47:0:0:129,2,17:4133,20,555:0.00,-0.52,40.86:0.00,-0.20,-0.18:0.00,-0.32,41.04:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,43:7.3,247.0,190.8:0,0,0:0,0,0:89,84,116:60,63,34:34,21,14:-,NM_001164315.1(ANKRD36) c.853A>G (p.Ile285Val):-,NOT_FOUND:-,NOT_FOUND 2 97808529 . A G 39 sb,lc VT=SNV;PN=C;NN=A;SST=Single;DP=143;Gene=ANKRD36/NM_001164315.1/1;CC=c.858A>G;ProtCh=p.S286=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:143:47:0:0:125,16,2:3932,529,19:0.00,38.93,-0.52:0.00,-0.19,-0.20:0.00,39.12,-0.32:0.00,1.00,0.00:0.00,0.98,0.00:0.00,1.00,0.00:60,43,60:8.8,194.1,44.0:0,0,0:0,0,0:93,117,51:55,30,96:33,9,36:-,NM_001164315.1(ANKRD36) c.858A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 97808573 . G . . NT END=97810254;NT GT ./. 2 97808723 rs78931590 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9996,T/0.0003994;Gene=ANKRD36/NM_001164315.1/1;CC=c.901+151C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:23:0:0:0:18,5:428,113:0.00,8.51:0.00,0.00:0.00,8.51:0.00,0.84:0.00,0.00:0.00,0.84:60,60:12.3,166.8:0,0:0,0:123,59:23,90:26,19:-,NM_001164315.1(ANKRD36) c.901+151C>T:-,NOT_FOUND:-,NOT_FOUND 2 97808756 . T G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;Gene=ANKRD36/NM_001164315.1/1;CC=c.901+184T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:A,G,T:15:0:0:0:1,3,11:9,89,302:0.04,7.18,0.00:0.00,0.00,0.00:0.04,7.18,0.00:0.00,0.55,0.00:0.00,0.00,0.00:0.00,0.55,0.00:60,43,60:100.0,248.7,22.3:0,0,0:0,0,0:92,105,68:55,46,83:0,6,33:NM_001164315.1(ANKRD36) c.901+184T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97808766 . G A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;Gene=ANKRD36/NM_001164315.1/1;CC=c.901+194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G:15:0:0:0:3,12:96,344:7.78,0.00:0.00,0.00:7.78,0.00:0.55,0.00:0.00,0.00:0.55,0.00:43,60:248.7,28.8:0,0:0,0:115,78:36,72:6,31:NM_001164315.1(ANKRD36) c.901+194G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97809974 rs111967813 C T 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=3;PC=0.010;Gene=ANKRD36/NM_001164315.1/1;CC=c.902-281C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,T:10:10:0:0:6,4:194,130:0.00,11.99:0.00,11.99:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,24:12.8,152.2:0,0:0,0:85,18:65,132:9,5:-,NM_001164315.1(ANKRD36) c.902-281C>T:-,NOT_FOUND:-,NOT_FOUND 2 97810023 rs71429337 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=5;Gene=ANKRD36/NM_001164315.1/1;CC=c.902-232G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:12:12:0:0:4,8:133,252:11.90,0.00:11.90,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:24,60:152.2,9.6:0,0:0,0:67,97:83,53:5,45:NM_001164315.1(ANKRD36) c.902-232G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97810034 rs62153046 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.902-221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:6,9:204,288:18.88,0.00:18.88,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:24,60:134.3,8.6:0,0:0,0:73,49:78,101:14,46:NM_001164315.1(ANKRD36) c.902-221T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97810063 rs62153047 G C 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=20;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.902-192G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:26:26:0:0:13,13:445,439:42.88,0.00:42.88,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:25,50:109.2,0.0:0,0:0,0:20,20:122,130:9,13:NM_001164315.1(ANKRD36) c.902-192G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97810180 rs62153048 G C 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=278;PC=0.057;Gene=ANKRD36/NM_001164315.1/1;CC=c.902-75G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:78:68:0:0:1,25,50,2:10,858,1595,42:-0.16,76.99,0.00,1.80:-0.20,37.90,0.00,-0.22:0.04,39.09,0.00,2.03:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,40,41,40:30.0,82.1,2.9,56.5:0,0,0,0:0,0,0,0:31,52,41,75:120,94,110,76:0,28,25,17:NM_001164315.1(ANKRD36) c.902-75G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97810195 rs62153049 A G 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=306;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.902-60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:70:0:0:63,25:2096,780:0.00,67.12:0.00,26.07:0.00,41.05:0.00,1.00:0.00,1.00:0.00,1.00:52,40:7.3,80.3:0,0:0,0:39,63:106,86:24,20:-,NM_001164315.1(ANKRD36) c.902-60A>G:-,NOT_FOUND:-,NOT_FOUND 2 97810284 . G . . NT END=97810376;NT GT ./. 2 97810290 rs201552645 T C 17 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.930+7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:C,T:102:65:0:0:8,94:255,2995:17.21,0.00:-1.76,0.00:18.97,0.00:0.91,0.00:0.97,0.00:0.97,0.00:24,60:98.9,5.4:5,0:0,0:137,92:13,57:4,31:NM_001164315.1(ANKRD36) c.930+7T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97810450 . G . . NT END=97812222;NT GT ./. 2 97812010 rs543615945 A AT 27 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4708,AT/0.5292;DB;DBA=NA;PAF=A/0.4708,AT/0.5292;DB;DBA=NA;PAF=A/0.4708,AT/0.5292;NP=282;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1004-200_1004-199insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,AT:11:11:8:0:3,8:103,257:0.00,26.72:0.00,26.72:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.3,21.6:0,0:0,0:135,41:14,109:6,27:-,NM_001164315.1(ANKRD36) c.1004-213_1004-212insT:-,NOT_FOUND:-,NOT_FOUND 2 97812254 . G . . NT END=97815031;NT GT ./. 2 97812504 rs35965387 G C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6114,C/0.3886;Gene=ANKRD36/NM_001164315.1/1;CC=c.1034+251G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,G:4:0:0:0:2,2:71,65:6.85,0.00:0.00,0.00:6.85,0.00:0.51,0.00:0.00,0.00:0.51,0.00:27,60:54.5,16.0:0,0:0,0:45,113:105,37:30,13:NM_001164315.1(ANKRD36) c.1034+251G>C,-:0.48,-:NOT_FOUND,- 2 97814956 rs4386368 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5351,A/0.4649;NP=779;Gene=ANKRD36/NM_001164315.1/1;CC=c.1035-76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:14:13:0:0:8,6:243,193:23.93,0.00:19.41,0.00:4.52,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:43.8,7.7:0,0:0,0:31,26:118,123:14,18:NM_001164315.1(ANKRD36) c.1035-76G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97815099 . G . . NT END=97817615;NT GT ./. 2 97817564 rs397774860 C CT 71 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=37;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1102-51dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T,CT:22:20:21:0:1,21:33,616:2.43,71.17:0.00,64.12:2.43,7.05:0.00,1.00:0.00,1.00:0.00,1.00:21,40:128.0,3.2:1,0:0,0:52,47:98,104:0,17:NM_001164315.1(ANKRD36) c.1102-52_1102-51insT,NM_001164315.1(ANKRD36) c.1102-52_1102-51insT:0.99,0.99:0.996175,0.996175 2 97817677 . G . . NT END=97818240;NT GT ./. 2 97818101 rs111932285 T G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-140T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:G,T:26:26:0:0:6,20:193,628:16.06,0.00:16.06,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:42,51:261.8,10.1:0,0:0,0:24,45:124,106:7,23:NM_001164315.1(ANKRD36) c.1163-140T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97818114 rs146739597 G T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.011;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-127G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:30:0:0:21,9:735,290:0.00,25.34:0.00,25.49:0.00,-0.16:0.00,0.99:0.00,0.99:0.00,0.59:51,43:9.7,259.2:0,0:0,0:58,33:93,118:24,16:-,NM_001164315.1(ANKRD36) c.1163-127G>T:-,NOT_FOUND:-,NOT_FOUND 2 97818146 rs145799985 G A 22 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.032;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-95G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:36:0:0:10,29:272,965:22.33,0.00:21.58,0.00:0.74,0.00:1.00,0.00:1.00,0.00:0.94,0.00:43,51:252.6,2.2:0,0:0,0:62,32:88,114:19,21:NM_001164315.1(ANKRD36) c.1163-95G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97818161 rs74715701 C A 23 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-80C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:48:41:0:0:9,39:289,1273:23.14,0.00:22.73,0.00:0.42,0.00:0.98,0.00:1.00,0.00:0.96,0.00:43,51:252.1,2.8:0,0:0,0:74,44:76,100:18,32:NM_001164315.1(ANKRD36) c.1163-80C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97818169 rs76008235 C T 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-72C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,T:55:47:0:0:45,10:1459,277:0.00,21.19:0.00,18.19:0.00,3.00:0.00,0.99:0.00,1.00:0.00,0.98:51,43:4.8,252.3:0,0:0,0:48,65:99,86:31,24:-,NM_001164315.1(ANKRD36) c.1163-72C>T:-,NOT_FOUND:-,NOT_FOUND 2 97818188 rs141129874 T C 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-53T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:51:0:0:13,51:412,1629:33.38,0.00:22.42,0.00:10.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,50:268.9,4.2:0,0:0,0:14,55:136,88:10,31:NM_001164315.1(ANKRD36) c.1163-53T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97818192 rs202154783 A G 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-49A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:55:0:0:51,17:1625,575:0.00,49.03:0.00,24.97:0.00,24.05:0.00,1.00:0.00,1.00:0.00,1.00:49,43:3.8,266.4:0,0:0,0:47,29:90,118:26,26:-,NM_001164315.1(ANKRD36) c.1163-49A>G:-,NOT_FOUND:-,NOT_FOUND 2 97818197 rs200340181 G T 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-44G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:64:50:0:0:51,13:1669,405:0.00,32.71:0.00,13.28:0.00,19.43:0.00,1.00:0.00,1.00:0.00,1.00:49,43:4.2,266.2:0,0:0,0:62,23:80,127:29,11:-,NM_001164315.1(ANKRD36) c.1163-44G>T:-,NOT_FOUND:-,NOT_FOUND 2 97818236 rs112647905 A C 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1163-5A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:78:49:0:0:61,16,1:1893,521,11:0.00,42.68,-0.19:0.00,15.71,0.01:0.00,26.97,-0.20:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,45,4:6.9,257.2,193.0:0,0,0:0,0,0:69,56,109:79,90,20:31,12,0:-,NM_001164315.1(ANKRD36) c.1163-5A>C:-,NOT_FOUND:-,NOT_FOUND 2 97818261 rs139806872 G T 51 lc VT=SNV;PN=G;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1183G>T;ProtCh=p.A395S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:82:48:0:0:64,18:2124,615:0.00,51.36:0.00,13.04:0.00,38.31:0.00,1.00:0.00,1.00:0.00,1.00:60,45:7.9,254.6:0,0:0,0:80,70:65,70:36,14:-,NM_001164315.1(ANKRD36) c.1183G>T (p.Ala395Ser):-,NOT_FOUND:-,NOT_FOUND 2 97818262 rs147852915 C G 49 lc VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1184C>G;ProtCh=p.A395G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:79:45:0:0:62,17:2054,586:0.00,48.86:0.00,11.72:0.00,37.14:0.00,1.00:0.00,1.00:0.00,1.00:60,46:8.6,250.6:0,0:0,0:86,78:61,65:38,10:-,NM_001164315.1(ANKRD36) c.1184C>G (p.Ala395Gly):-,NOT_FOUND:-,NOT_FOUND 2 97818264 rs150243949 G T 50 lc VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1186G>T;ProtCh=p.V396F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:81:48:0:0:63,18:2103,604:0.00,50.36:0.00,13.13:0.00,37.23:0.00,1.00:0.00,1.00:0.00,1.00:60,45:9.6,254.3:0,0:0,0:91,80:58,62:37,10:-,NM_001164315.1(ANKRD36) c.1186G>T (p.Val396Phe):-,NOT_FOUND:-,NOT_FOUND 2 97818272 . G . . NT END=97820411;NT GT ./. 2 97818283 rs112336445 G C 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1193+12G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:70:42:0:0:1,18,51:8,632,1706:-0.23,54.60,0.00:-0.13,16.07,0.00:-0.10,38.53,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,45,60:231.0,255.3,10.1:0,0,0:0,0,0:100,93,81:50,43,50:0,15,34:NM_001164315.1(ANKRD36) c.1193+12G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97818326 rs72493416 G T 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ANKRD36/NM_001164315.1/1;CC=c.1193+55G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:45:21:0:0:1,33,11:13,1073,335:0.03,0.00,28.01:-0.11,0.00,7.06:0.14,0.00,20.95:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:59,60,43:47.0,14.6,261.1:0,0,0:0,0,0:74,97,134:76,46,13:0,22,2:-,NM_001164315.1(ANKRD36) c.1193+55G>T:-,NOT_FOUND:-,NOT_FOUND 2 97818339 rs13024340 T C 9 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1193+68T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:32:12:0:0:4,28:128,871:9.48,0.00:-0.46,0.00:9.94,0.00:0.63,0.00:0.72,0.00:0.93,0.00:41,60:280.8,20.0:0,0:0,0:146,103:4,47:1,16:NM_001164315.1(ANKRD36) c.1193+68T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97818348 rs58438329 A G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6224,G/0.3776;PC=0.008;Gene=ANKRD36/NM_001164315.1/1;CC=c.1193+77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:11:0:0:15,12:491,398:0.00,37.47:0.00,14.60:0.00,22.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,37.4:0,0:0,0:113,110:37,41:14,14:-,NM_001164315.1(ANKRD36) c.1193+77A>G:-,0.48:-,NOT_FOUND 2 97820479 . G . . NT END=97823843;NT GT ./. 2 97823905 . G . . NT END=97824324;NT GT ./. 2 97823971 rs13011421 T C 15 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6072,C/0.3928;Gene=ANKRD36/NM_001164315.1/1;CC=c.1321+67T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:13:7:0:0:6,7:165,192:15.45,0.00:1.10,0.00:14.36,0.00:0.97,0.00:0.98,0.00:0.99,0.00:60,60:57.0,31.3:0,0:0,0:140,93:10,36:7,43:NM_001164315.1(ANKRD36) c.1321+67T>C,-:0.44,-:NOT_FOUND,- 2 97824008 rs12613931 A T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=167;PC=0.005;Gene=ANKRD36/NM_001164315.1/1;CC=c.1321+104A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,T:13:1:0:0:9,4:272,130:0.00,11.43:0.00,-0.16:0.00,11.59:0.00,0.79:0.00,0.54:0.00,0.97:60,41:20.4,67.8:0,0:0,0:65,14:86,135:34,5:-,NM_001164315.1(ANKRD36) c.1321+104A>T:-,NOT_FOUND:-,NOT_FOUND 2 97824050 rs4539827 T C 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=195;PC=0.022;Gene=ANKRD36/NM_001164315.1/1;CC=c.1321+146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:C,T:17:5:0:0:5,12:143,392:12.21,0.00:1.17,0.00:11.04,0.00:0.88,0.00:0.81,0.00:0.97,0.00:45,60:61.4,14.8:0,0:0,0:56,74:93,76:9,39:NM_001164315.1(ANKRD36) c.1321+146T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97824393 . G . . NT END=97827835;NT GT ./. 2 97827576 rs76387338 A T 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=6;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-260A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,T:10:10:0:0:6,4:174,127:0.00,11.70:0.00,11.70:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,31:23.8,176.5:0,0:0,0:44,48:107,102:11,24:-,NM_001164315.1(ANKRD36) c.1390-260A>T:-,NOT_FOUND:-,NOT_FOUND 2 97827599 rs4092203 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=14;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-237G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,G,T:10:10:0:0:4,5,1:117,170,8:10.91,0.00,0.17:10.91,0.00,0.17:0.00,0.00,0.00:0.84,0.00,0.00:0.84,0.00,0.00:0.00,0.00,0.00:31,60,60:176.5,7.8,104.0:0,0,0:0,0,0:71,60,74:79,91,77:24,20,0:NM_001164315.1(ANKRD36) c.1390-237G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97827622 rs2918899 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=3;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-214G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G:11:11:0:0:4,7:113,177:10.09,0.00:10.09,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:31,60:176.5,35.4:0,0:0,0:94,83:56,68:24,20:NM_001164315.1(ANKRD36) c.1390-214G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97827667 rs76780522 G A 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:15,12:459,353:45.02,0.00:45.02,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:43,60:174.7,30.2:0,0:0,0:9,43:142,107:6,41:NM_001164315.1(ANKRD36) c.1390-169G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97827695 . A C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-141A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,C,G:34:34:0:0:29,4,1:915,115,11:0.00,8.15,-0.07:0.00,8.15,-0.07:0.00,0.00,0.00:0.00,0.62,0.00:0.00,0.62,0.00:0.00,0.00,0.00:60,43,43:105.7,198.8,104.0:0,0,0:0,0,0:30,32,7:117,118,134:18,7,0:-,NM_001164315.1(ANKRD36) c.1390-141A>C:-,NOT_FOUND:-,NOT_FOUND 2 97827700 rs2924001 A G 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-136A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:39:39:0:0:16,1,19,3:449,13,631,98:0.00,0.21,61.63,7.34:0.00,0.21,61.63,7.34:0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00:60,43,50,43:26.9,104.0,171.6,193.7:0,0,0,0:0,0,0,0:31,12,35,33:120,129,112,118:21,0,14,9:-,NM_001164315.1(ANKRD36) c.1390-136A>G:-,NOT_FOUND:-,NOT_FOUND 2 97827737 rs76168297 C T 124 nt VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=13;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-99C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:67:64:0:0:23,1,43:690,10,1222:0.00,-0.01,124.01:0.00,0.01,115.67:0.00,-0.02,8.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:21.7,118.0,163.7:0,0,0:0,0,0:40,41,40:106,90,107:25,0,27:-,NM_001164315.1(ANKRD36) c.1390-99C>T:-,NOT_FOUND:-,NOT_FOUND 2 97827757 rs76324746 A G 143 nt VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=43;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-79A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:87:81:0:0:35,52:1078,1444:0.00,143.46:0.00,120.88:0.00,22.58:0.00,1.00:0.00,1.00:0.00,1.00:60,57:42.6,161.5:0,0:0,0:43,34:106,116:24,26:-,NM_001164315.1(ANKRD36) c.1390-79A>G:-,NOT_FOUND:-,NOT_FOUND 2 97827787 rs113653147 G A 247 nt VT=SNV;PN=T;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=112;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:112:104:0:0:76,36:2416,1166:247.29,0.00:176.60,0.00:70.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:151.2,32.8:0,0:0,0:46,58:102,90:23,33:NM_001164315.1(ANKRD36) c.1390-49G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97827790 rs6750709 T C 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=T/0.8407,C/0.1593;NP=197;PC=0.119;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-46T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:116:107:0:0:1,20,95:11,660,3021:-0.26,52.50,0.00:-0.14,38.47,0.00:-0.11,14.03,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:58,60,59:196.0,40.9,128.9:0,0,0:0,0,0:8,50,51:143,89,94:0,41,25:NM_001164315.1(ANKRD36) c.1390-46T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97827800 rs111338734 A G 257 nt VT=SNV;PN=T;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=194;PC=0.010;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-36A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:122:112:0:0:44,78:1375,2542:0.00,256.76:0.00,173.60:0.00,83.15:0.00,1.00:0.00,1.00:0.00,1.00:60,57:32.8,151.7:0,0:0,0:50,53:94,92:34,26:-,NM_001164315.1(ANKRD36) c.1390-36A>G:-,NOT_FOUND:-,NOT_FOUND 2 97827818 rs397985257 C CT 92 idl,rn VT=INS;SST=Single;DP=126;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=498;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-6dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:119:104:43:6:77,38,4:2522,1189,137:0.00,91.84,3.31:0.00,40.78,2.60:0.00,51.06,0.72:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,51,53:103.1,113.1,118.5:0,5,2:0,0,0:57,63,79:82,84,71:27,23,43:-,NM_001164315.1(ANKRD36) c.1390-18_1390-17insT:-,NOT_FOUND:-,NOT_FOUND 2 97827830 rs201574565 T A 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.1390-6T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:132:106:0:0:20,112:608,3553:46.04,0.00:24.16,0.00:21.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:170.6,86.0:0,0:0,0:80,69:70,74:18,27:NM_001164315.1(ANKRD36) c.1390-6T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97827839 rs199729690 G A 273 lc VT=SNV;PN=A;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=711;PC=0.855;Gene=ANKRD36/NM_001164315.1/1;CC=c.1393G>A;ProtCh=p.G465R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:136:101:0:0:84,52:2723,1662:272.96,0.00:137.93,0.00:135.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:138.9,20.5:0,0:0,0:75,57:71,79:22,29:NM_001164315.1(ANKRD36) c.1393G>A (p.Gly465Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 97827876 . G . . NT END=97829597;NT GT ./. 2 97827912 rs201619268 G C 135 nt VT=SNV;PN=T;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=191;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+37G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:89:41:0:0:45,43,1:1399,1411,10:134.79,0.00,-0.10:42.14,0.00,0.04:92.65,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:53,60,40:134.8,12.7,188.0:0,0,0:0,0,0:117,87,136:28,55,15:20,26,0:NM_001164315.1(ANKRD36) c.1429+37G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97827929 rs199850355 A G 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:25:0:0:38,26:1185,793:0.00,72.89:0.00,12.94:0.00,59.96:0.00,1.00:0.00,1.00:0.00,1.00:60,40:11.0,135.3:0,0:0,0:102,101:42,48:20,28:-,NM_001164315.1(ANKRD36) c.1429+54A>G:-,NOT_FOUND:-,NOT_FOUND 2 97827931 rs201368435 T A 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+56T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:64:26:0:0:26,38:790,1208:72.60,0.00:15.94,0.00:56.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:135.3,11.3:0,0:0,0:103,104:46,39:28,24:NM_001164315.1(ANKRD36) c.1429+56T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97827943 rs374246880 A AT 17 idl,nt VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.037;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+68_1429+69insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,AT:55:19:13:0:42,13:1252,240:0.00,17.21:0.00,4.89:0.00,12.32:0.00,1.00:0.00,0.98:0.00,1.00:60,40:36.0,118.5:1,13:0,0:113,89:31,62:21,18:-,NM_001164315.1(ANKRD36) c.1429+68_1429+69insT:-,NOT_FOUND:-,NOT_FOUND 2 97827944 rs368021953 AGAAAC A 18 idl,nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+70_1429+74delGAAAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGAAAC,A:46:14:0:13:33,13:1095,242:0.00,18.40:0.00,5.44:0.00,12.96:0.00,1.00:0.00,0.98:0.00,1.00:60,40:10.5,118.5:1,13:0,0:103,91:47,60:20,18:-,NM_001164315.1(ANKRD36) c.1429+70_1429+74delGAAAC:-,NOT_FOUND:-,NOT_FOUND 2 97827954 . G A 47 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=47;PC=0.440;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:11:0:0:18,29:520,942:46.98,0.00:6.91,0.00:40.07,0.00:1.00,0.00:0.99,0.00:1.00,0.00:50,60:97.7,6.4:14,0:0,0:84,110:66,41:34,16:NM_001164315.1(ANKRD36) c.1429+79G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97827994 rs369655834 T TTAA 63 sb,nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.324;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+122_1429+124dupATA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TTAA:45:3:26:0:1,18,26:31,555,639:1.75,0.00,62.68:-0.01,0.00,1.86:1.76,0.00,60.82:0.00,0.00,1.00:0.00,0.00,0.93:0.00,0.00,1.00:30,60,54:116.0,11.3,54.2:1,0,0:0,0,0:12,96,52:138,55,85:0,41,22:-,NM_001164315.1(ANKRD36) c.1429+119_1429+120insTAA:-,NOT_FOUND:-,NOT_FOUND 2 97828110 rs76183991 A G 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+235A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G:20:1:0:0:6,14:192,474:0.00,48.77:0.00,3.92:0.00,44.85:0.00,1.00:0.00,0.80:0.00,1.00:60,60:6.7,79.4:0,0:0,0:125,122:25,24:9,10:-,NM_001164315.1(ANKRD36) c.1429+235A>G:-,NOT_FOUND:-,NOT_FOUND 2 97828111 rs76752724 A T 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+236A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:A,T:20:1:0:0:6,14:193,457:0.00,47.07:0.00,3.62:0.00,43.45:0.00,1.00:0.00,0.80:0.00,1.00:60,60:6.7,79.4:0,0:0,0:126,123:24,23:9,10:-,NM_001164315.1(ANKRD36) c.1429+236A>T:-,NOT_FOUND:-,NOT_FOUND 2 97828124 rs201083065 AT A 30 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=176;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1429+254delT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:18:1:0:10:8,10:250,307:0.00,30.10:0.00,3.42:0.00,26.68:0.00,1.00:0.00,0.70:0.00,1.00:60,60:38.6,77.8:0,0:0,0:144,130:6,19:4,6:-,NM_001164315.1(ANKRD36) c.1429+250delT:-,NOT_FOUND:-,NOT_FOUND 2 97829364 rs184466531 G A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.048;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-656G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:5:0:0:3,2:91,69:9.07,0.00:9.07,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:44,60:242.0,33.5:0,0:0,0:33,13:106,137:10,4:NM_001164315.1(ANKRD36) c.1430-656G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97829371 rs189397796 G T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;PC=0.035;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-649G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:G,T:5:5:0:0:2,3:70,84:0.00,8.36:0.00,8.36:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,44:33.5,242.0:0,0:0,0:20,40:130,99:4,10:-,NM_001164315.1(ANKRD36) c.1430-649G>T:-,NOT_FOUND:-,NOT_FOUND 2 97829382 . G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-638G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:5:5:0:0:3,2:101,64:10.07,0.00:10.07,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:44,60:242.0,33.5:0,0:0,0:51,31:88,119:10,4:NM_001164315.1(ANKRD36) c.1430-638G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97829392 rs201655948 G C 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-628G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,G:5:5:0:0:3,2:86,64:8.57,0.00:8.57,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:44,60:242.0,33.5:0,0:0,0:61,41:78,109:10,4:NM_001164315.1(ANKRD36) c.1430-628G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97829427 . T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-593T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:8:8:0:0:5,3:146,105:14.68,0.00:14.68,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:56,60:171.6,0.0:0,0:0,0:81,28:43,123:16,7:NM_001164315.1(ANKRD36) c.1430-593T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97829448 . T G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-572T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:G,T:9:9:0:0:6,3:161,88:16.43,0.00:16.43,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:148.5,0.0:0,0:0,0:100,49:35,102:23,7:NM_001164315.1(ANKRD36) c.1430-572T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97829485 rs149133318 C T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-535C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,T:11:11:0:0:8,3:275,95:0.00,8.13:0.00,8.13:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,49:20.6,235.0:0,0:0,0:77,16:73,122:39,6:-,NM_001164315.1(ANKRD36) c.1430-535C>T:-,NOT_FOUND:-,NOT_FOUND 2 97829502 . C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;PC=0.020;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-518C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,T:15:15:0:0:11,4:365,130:0.00,11.13:0.00,11.27:0.00,-0.13:0.00,0.76:0.00,0.76:0.00,0.55:60,58:9.7,243.0:0,0:0,0:45,26:106,118:34,10:-,NM_001164315.1(ANKRD36) c.1430-518C>T:-,NOT_FOUND:-,NOT_FOUND 2 97829513 . C G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;PC=0.035;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-507C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,G:17:17:0:0:12,5:394,155:0.00,13.41:0.00,13.56:0.00,-0.15:0.00,0.88:0.00,0.88:0.00,0.59:60,60:10.7,230.6:0,0:0,0:30,31:112,120:23,18:-,NM_001164315.1(ANKRD36) c.1430-507C>G:-,NOT_FOUND:-,NOT_FOUND 2 97829531 rs571995187 C A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.023;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-489C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:20:0:0:7,14:208,486:18.33,0.00:12.64,0.00:5.69,0.00:0.97,0.00:1.00,0.00:0.94,0.00:60,60:207.1,7.6:0,0:0,0:21,40:129,109:15,23:NM_001164315.1(ANKRD36) c.1430-489C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97829534 . C G 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;PC=0.006;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-486C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:C,G:23:21:0:0:16,7:514,200:0.00,17.20:0.00,11.02:0.00,6.18:0.00,0.97:0.00,1.00:0.00,0.94:60,60:9.4,197.3:0,0:0,0:40,15:107,127:22,9:-,NM_001164315.1(ANKRD36) c.1430-486C>G:-,NOT_FOUND:-,NOT_FOUND 2 97829539 . C G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;PC=0.014;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-481C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,G:25:22:0:0:20,5:648,175:0.00,14.46:0.00,3.52:0.00,10.94:0.00,0.83:0.00,0.98:0.00,0.89:60,60:38.7,209.6:0,0:0,0:48,14:101,122:25,14:-,NM_001164315.1(ANKRD36) c.1430-481C>G:-,NOT_FOUND:-,NOT_FOUND 2 97829547 . T C 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-473T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:29:0:0:13,19:436,618:40.42,0.00:24.64,0.00:15.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:170.7,7.9:0,0:0,0:20,47:115,100:17,23:NM_001164315.1(ANKRD36) c.1430-473T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97829618 rs80035863 G A 127 lc VT=SNV;PN=T;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=17;PC=0.005;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-402G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:87:0:0:43,56:1355,1942:126.52,0.00:78.57,0.00:47.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:119.2,16.3:0,0:0,0:54,45:91,101:9,31:NM_001164315.1(ANKRD36) c.1430-402G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97829633 rs142339921 A T 145 lc VT=SNV;PN=C;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=22;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-387A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:104:90:0:0:57,1,46:1866,12,1537:0.00,-0.09,144.90:0.00,-0.02,82.50:0.00,-0.07,62.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,25,60:7.9,140.0,116.8:0,0,0:0,0,0:45,60,69:104,91,73:28,0,9:-,NM_001164315.1(ANKRD36) c.1430-387A>T:-,NOT_FOUND:-,NOT_FOUND 2 97829706 rs201875233 T C 57 idl,lc VT=SNV;PN=A;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=0.038;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-314T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:71:0:5:21,72:684,2299:56.86,0.00:37.79,0.00:19.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,44:141.4,11.1:0,1:0,0:135,80:16,70:2,25:NM_001164315.1(ANKRD36) c.1430-314T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97829707 rs200297089 C T 60 lc VT=SNV;PN=T;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;PC=0.054;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-313C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,D:98:74:0:1:74,1,22,1:2439,10,716,33:0.00,-0.22,59.67,1.46:0.00,-0.09,42.31,1.59:0.00,-0.13,17.36,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:44,27,43,42:14.5,104.0,139.4,0.0:0,0,1,0:0,0,0,0:85,37,136,65:65,114,14,86:32,0,2,0:-,NM_001164315.1(ANKRD36) c.1430-313C>T:-,NOT_FOUND:-,NOT_FOUND 2 97829863 rs200832670 T G 47 lc VT=SNV;PN=T;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=NA;NP=2;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-157T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:105:74:0:0:19,86:593,2655:46.86,0.00:33.86,0.00:13.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,51:116.0,7.9:0,0:0,0:51,63:99,86:48,28:NM_001164315.1(ANKRD36) c.1430-157T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97829866 rs201180053 C T 51 lc VT=SNV;PN=G;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=NA;NP=5;PC=0.022;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-154C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:77:0:0:86,21:2799,640:0.00,51.03:0.00,37.18:0.00,13.85:0.00,1.00:0.00,1.00:0.00,1.00:51,40:7.5,121.1:0,0:0,0:65,50:84,101:29,45:-,NM_001164315.1(ANKRD36) c.1430-154C>T:-,NOT_FOUND:-,NOT_FOUND 2 97829925 rs189153991 C G 102 lc VT=SNV;PN=G;NN=A;SST=Single;DP=123;DB;DBA=NA;PAF=NA;NP=118;PC=0.090;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-95C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:123:84:0:0:1,84,38:10,2696,1171:-0.21,0.00,102.37:-0.16,0.00,70.89:-0.05,0.00,31.48:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:33,50,40:41.0,9.9,169.5:0,0,0:0,0,0:16,85,55:135,61,94:0,31,12:-,NM_001164315.1(ANKRD36) c.1430-95C>G:-,NOT_FOUND:-,NOT_FOUND 2 97829973 rs200092139 G A 71 lc VT=SNV;PN=T;NN=T;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=2;PC=0.057;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-47G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:117:72:0:0:27,90:857,2939:71.15,0.00:46.31,0.00:24.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:27,43:202.4,29.9:0,0:0,0:91,85:59,66:21,26:NM_001164315.1(ANKRD36) c.1430-47G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97829984 rs201356360 A C 101 lc VT=SNV;PN=T;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=NA;PC=0.093;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-36A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:115:64:0:0:80,34,1:2433,1151,11:0.00,101.19,-0.20:0.00,63.34,-0.01:0.00,37.84,-0.19:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,40,40:19.1,192.9,60.0:0,0,0:0,0,0:91,108,117:60,42,-2:29,15,0:-,NM_001164315.1(ANKRD36) c.1430-36A>C:-,NOT_FOUND:-,NOT_FOUND 2 97829998 rs201970613 A T 125 lc VT=SNV;PN=T;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=3;PC=0.136;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-22A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:122:70:0:0:78,44:2468,1386:0.00,124.96:0.00,85.30:0.00,39.66:0.00,1.00:0.00,1.00:0.00,1.00:43,40:8.8,187.3:0,0:0,0:85,88:65,62:37,43:-,NM_001164315.1(ANKRD36) c.1430-22A>T:-,NOT_FOUND:-,NOT_FOUND 2 97830012 rs200393754 C T 127 lc VT=SNV;PN=G;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=14;PC=0.974;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-8C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:70:0:0:82,46:2600,1417:0.00,127.37:0.00,79.32:0.00,48.05:0.00,1.00:0.00,1.00:0.00,1.00:42,40:9.3,188.0:0,0:0,0:81,78:69,72:41,37:-,NM_001164315.1(ANKRD36) c.1430-8C>T:-,NOT_FOUND:-,NOT_FOUND 2 97830016 rs201424946 G T 71 lc VT=SNV;PN=T;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=NA;PC=0.995;Gene=ANKRD36/NM_001164315.1/1;CC=c.1430-4G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:126:65:0:0:97,29:3142,863:0.00,70.65:0.00,38.75:0.00,31.90:0.00,1.00:0.00,1.00:0.00,1.00:42,40:34.6,200.7:0,0:0,0:81,74:69,77:42,39:-,NM_001164315.1(ANKRD36) c.1430-4G>T:-,NOT_FOUND:-,NOT_FOUND 2 97830049 . G . . NT END=97830133;NT GT ./. 2 97830053 rs112213180 A G 180 nt VT=SNV;PN=A;NN=C;SST=Single;DP=131;DB;DBA=NA;PAF=NA;NP=385;PC=0.401;Gene=ANKRD36/NM_001164315.1/1;CC=c.1458+5A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:131:60:0:0:74,57:2225,1919:0.00,180.17:0.00,64.32:0.00,115.85:0.00,1.00:0.00,1.00:0.00,1.00:51,44:10.4,147.1:0,0:0,0:64,44:86,107:40,24:-,NM_001164315.1(ANKRD36) c.1458+5A>G:-,NOT_FOUND:-,NOT_FOUND 2 97830104 rs62153886 G A 157 nt VT=SNV;PN=T;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=NA;NP=934;PC=0.585;Gene=ANKRD36/NM_001164315.1/1;CC=c.1459-30G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:132:74:0:0:53,3,76:1695,107,2515:156.81,6.45,0.00:63.82,3.24,0.00:92.99,3.22,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,44,60:127.4,90.7,10.6:0,0,0:0,0,0:78,51,63:71,69,83:18,28,32:NM_001164315.1(ANKRD36) c.1459-30G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97830108 rs74323232 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=503;PC=0.945;Gene=ANKRD36/NM_001164315.1/1;CC=c.1459-26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,G:134:75:0:0:122,12:3883,364:0.00,24.76:0.00,18.44:0.00,6.32:0.00,0.99:0.00,0.99:0.00,1.00:60,44:48.7,134.8:0,0:0,0:80,80:69,68:30,26:-,NM_001164315.1(ANKRD36) c.1459-26A>G:-,NOT_FOUND:-,NOT_FOUND 2 97830179 rs78284834 G A 58 lc VT=SNV;PN=A;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=238;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1504G>A;ProtCh=p.G502S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:52:0:0:21,69:692,2178:58.00,0.00:33.92,0.00:24.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,60:125.5,8.7:0,0:0,0:116,93:25,55:23,32:NM_001164315.1(ANKRD36) c.1504G>A (p.Gly502Ser),-:NOT_FOUND,-:NOT_FOUND,- 2 97830192 rs199506401 T C 31 lc VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=181;Gene=ANKRD36/NM_001164315.1/1;CC=c.1517T>C;ProtCh=p.L506P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:46:0:0:13,63:395,2067:30.63,0.00:24.65,0.00:5.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:133.8,8.8:0,0:0,0:125,97:26,52:16,30:NM_001164315.1(ANKRD36) c.1517T>C (p.Leu506Pro),-:NOT_FOUND,-:NOT_FOUND,- 2 97830207 . G . . NT END=97833313;NT GT ./. 2 97830218 rs202196850 G A 13 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+12G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,G:58:30:0:0:6,52:184,1719:12.96,0.00:14.71,0.00:-1.75,0.00:0.82,0.00:0.90,0.00:0.97,0.00:27,60:143.7,5.3:0,0:0,0:103,92:47,53:18,31:NM_001164315.1(ANKRD36) c.1531+12G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97830230 rs200300948 G A 9 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=7;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:9:A,G:56:24:0:0:5,51:140,1713:9.15,0.00:10.71,0.00:-1.56,0.00:0.70,0.00:0.79,0.00:0.94,0.00:27,60:145.2,4.3:0,0:0,0:114,92:37,50:16,40:NM_001164315.1(ANKRD36) c.1531+24G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97830363 rs77228750 T A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+157T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:0:0:0:8,14:249,451:22.45,0.00:0.00,0.00:22.45,0.00:0.99,0.00:0.00,0.00:0.99,0.00:40,60:174.9,8.8:0,0:0,0:40,99:110,51:21,43:NM_001164315.1(ANKRD36) c.1531+157T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97830392 rs74515241 G C 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=14;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+186G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:0:0:0:11,12:362,363:34.53,0.00:0.00,0.00:34.53,0.00:1.00,0.00:0.00,0.00:1.00,0.00:43,60:183.8,7.2:0,0:0,0:43,80:108,70:20,42:NM_001164315.1(ANKRD36) c.1531+186G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97830393 rs75142206 G A 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=14;PC=0.015;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:0:0:0:12,12:398,373:38.30,0.00:0.00,0.00:38.30,0.00:1.00,0.00:0.00,0.00:1.00,0.00:43,60:181.4,7.2:0,0:0,0:39,81:111,69:16,42:NM_001164315.1(ANKRD36) c.1531+187G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97830435 rs200031970 G T 52 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=17;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+229G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:0:0:0:8,15:274,508:0.00,51.50:0.00,0.00:0.00,51.50:0.00,1.00:0.00,0.00:0.00,1.00:60,43:9.1,177.2:0,0:0,0:107,70:43,80:19,28:-,NM_001164315.1(ANKRD36) c.1531+229G>T:-,NOT_FOUND:-,NOT_FOUND 2 97830438 rs77360100 A G 52 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=125;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+232A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:8,15:251,510:0.00,51.70:0.00,0.00:0.00,51.70:0.00,1.00:0.00,0.00:0.00,1.00:60,43:9.1,177.2:0,0:0,0:110,73:40,77:19,28:-,NM_001164315.1(ANKRD36) c.1531+232A>G:-,NOT_FOUND:-,NOT_FOUND 2 97830458 . C T 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+252C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:C,T:23:0:0:0:19,4:590,122:0.00,9.50:0.00,0.00:0.00,9.50:0.00,0.69:0.00,0.00:0.00,0.69:60,40:98.6,189.8:0,0:0,0:93,93:57,58:28,26:-,NM_001164315.1(ANKRD36) c.1531+252C>T:-,NOT_FOUND:-,NOT_FOUND 2 97830501 rs74661822 A G 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=307;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+295A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G,T:14:0:0:0:3,10,1:74,338,10:0.00,35.48,0.36:0.00,0.00,0.00:0.00,35.48,0.36:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,43,9:0.0,169.6,151.0:0,0,0:0,0,0:135,118,76:15,32,51:5,18,0:-,NM_001164315.1(ANKRD36) c.1531+295A>G:-,NOT_FOUND:-,NOT_FOUND 2 97830540 rs200963087 G C 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=17;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1531+334G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:C,G:7:0:0:0:6,1:182,34:19.81,0.00:0.00,0.00:19.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,60:151.8,16.0:0,0:0,0:126,25:14,125:11,0:NM_001164315.1(ANKRD36) c.1531+334G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97832981 rs199913644 T G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-333T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:G,T:7:7:0:0:3,4:100,123:9.36,0.00:9.36,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:27,27:182.0,17.2:0,0:0,0:34,89:116,61:1,28:NM_001164315.1(ANKRD36) c.1532-333T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97832990 rs200844930 G C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=26;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-324G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,G:7:7:0:0:4,3:134,108:13.23,0.00:13.23,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:27,27:175.2,0.7:0,0:0,0:42,84:108,66:20,28:NM_001164315.1(ANKRD36) c.1532-324G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97833003 rs201789366 T C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=16;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-311T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:7:7:0:0:4,3:135,98:13.33,0.00:13.33,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:27,27:175.2,0.7:0,0:0,0:55,97:95,53:20,28:NM_001164315.1(ANKRD36) c.1532-311T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97833043 rs201255244 G A 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.679;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-271G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G:12:12:0:0:5,7:167,228:15.55,0.00:15.55,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:27,51:168.2,8.1:0,0:0,0:95,17:56,134:40,13:NM_001164315.1(ANKRD36) c.1532-271G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97833059 rs79482793 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;PC=0.063;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-255A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:10:10:0:0:6,4:194,119:0.00,10.87:0.00,10.87:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:51,27:9.2,167.2:0,0:0,0:27,91:123,60:7,20:-,NM_001164315.1(ANKRD36) c.1532-255A>G:-,NOT_FOUND:-,NOT_FOUND 2 97833082 . AT A 11 nt VT=DEL;SST=Single;DP=13;PC=0.017;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-228delT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:AT,A:13:13:0:5:8,5:233,124:0.00,11.02:0.00,11.02:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:51,27:9.6,165.8:0,0:0,0:43,94:106,57:14,40:-,NM_001164315.1(ANKRD36) c.1532-231delT:-,NOT_FOUND:-,NOT_FOUND 2 97833105 rs115380362 T C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1;PC=0.013;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-209T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:15:15:0:0:4,11:140,308:12.13,0.00:12.13,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:27,51:157.5,11.2:0,0:0,0:63,40:88,111:36,26:NM_001164315.1(ANKRD36) c.1532-209T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97833135 rs77483448 T C 25 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:8,17:277,527:24.72,0.00:24.72,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:44,51:151.8,40.1:8,3:0,0:28,51:122,99:10,38:NM_001164315.1(ANKRD36) c.1532-179T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97833139 rs140541372 GGGTCCTATTT G 23 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.081;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-168_1532-159delATTTGGTCCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGTCCTATTT,G:29:29:0:11:18,11:543,260:0.00,22.56:0.00,22.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:51,44:22.2,147.0:0,0:0,0:53,28:97,122:45,11:-,NM_001164315.1(ANKRD36) c.1532-174_1532-165delGGTCCTATTT:-,NOT_FOUND:-,NOT_FOUND 2 97833159 rs80186109 T A 113 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-155T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:57:57:0:0:35,22:1128,691:113.01,0.00:113.01,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:44,51:143.7,12.4:11,0:0,0:16,47:129,103:11,38:NM_001164315.1(ANKRD36) c.1532-155T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97833193 rs5008281 G A 251 nt VT=SNV;PN=G;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=104;PC=0.064;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-121G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:108:101:0:0:75,2,31:2427,23,956:250.69,0.23,0.00:221.23,-0.05,0.00:29.46,0.29,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,27,51:126.4,182.0,6.3:0,0,0:0,0,0:26,26,34:125,124,117:17,14,22:NM_001164315.1(ANKRD36) c.1532-121G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97833215 rs146634230 T C 330 nt VT=SNV;PN=T;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=916;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:142:129:0:0:97,45:3221,1421:329.82,0.00:263.99,0.00:65.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,51:122.3,7.0:0,2:0,0:37,37:114,114:20,26:NM_001164315.1(ANKRD36) c.1532-99T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97833217 rs367617098 C T 339 nt VT=SNV;PN=C;NN=T;SST=Single;DP=144;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=920;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I:144:131:2:0:42,100,2:1357,3292,29:0.00,339.28,1.09:0.00,268.24,1.13:0.00,71.04,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,44,27:4.1,120.7,61.0:0,0,0:0,0,0:39,37,2:111,113,149:23,20,0:-,NM_001164315.1(ANKRD36) c.1532-97C>T:-,NOT_FOUND:-,NOT_FOUND 2 97833261 . T A 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=200;NP=64;PC=0.976;Gene=ANKRD36/NM_001164315.1/1;CC=c.1532-53T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,T:200:179:0:0:16,184:528,6036:36.24,0.00:26.12,0.00:10.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,44:112.4,72.4:0,0:0,0:60,64:88,85:26,24:NM_001164315.1(ANKRD36) c.1532-53T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97833342 rs5008284 G A 342 nt VT=SNV;PN=C;NN=G;SST=Single;DP=182;DB;DBA=NA;PAF=NA;NP=488;PC=0.994;Gene=ANKRD36/NM_001164315.1/1;CC=c.1560G>A;ProtCh=p.T520=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:182:121:0:0:104,78:3458,2329:341.58,0.00:184.63,0.00:156.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:88.4,5.6:0,0:0,0:116,73:29,75:17,30:NM_001164315.1(ANKRD36) c.1560G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 97833343 . G . . NT END=97833431;NT GT ./. 2 97833361 rs1358633 A G 159 nt VT=SNV;PN=C;NN=T;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=442;NP=8;PC=0.195;Gene=ANKRD36/NM_001164315.1/1;CC=c.1560+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:153:103:0:0:81,11,61:2617,346,1727:0.00,24.68,159.23:0.00,15.40,86.86:0.00,9.28,72.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,42,43:5.8,84.3,88.9:0,0,0:0,0,0:77,131,128:73,20,23:32,8,8:-,NM_001164315.1(ANKRD36) c.1560+19A>G:-,NOT_FOUND:-,NOT_FOUND 2 97833394 rs1636143 C T 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1561-38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:90:0:0:110,22:3703,644:0.00,49.16:0.00,43.28:0.00,5.88:0.00,1.00:0.00,1.00:0.00,1.00:44,40:15.9,115.7:0,1:0,0:62,48:81,103:44,34:-,NM_001164315.1(ANKRD36) c.1561-38C>T:-,NOT_FOUND:-,NOT_FOUND 2 97833399 rs201829271 C T 69 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1561-33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:88:0:0:99,29:3217,853:0.00,69.43:0.00,49.66:0.00,19.76:0.00,1.00:0.00,1.00:0.00,1.00:44,40:7.1,115.4:1,20:0,0:57,60:92,90:35,42:-,NM_001164315.1(ANKRD36) c.1561-33C>T:-,NOT_FOUND:-,NOT_FOUND 2 97833401 rs5832832 T TATTAATCA 35 sb,nt VT=INS;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.1561-30_1561-23dupATTAATCA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TATTAATCA:119:86:20:1:2,97,20:37,3140,482:0.99,0.00,34.93:1.25,0.00,36.58:-0.26,0.00,-1.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,44,40:69.5,10.1,110.7:0,0,0:0,0,0:20,67,30:131,75,120:20,41,13:-,NM_001164315.1(ANKRD36) c.1561-31_1561-30insATTAATCA:-,NOT_FOUND:-,0.220641 2 97833466 rs112133169 C T 271 lc VT=SNV;PN=G;NN=A;SST=Single;DP=180;DB;DBA=NA;PAF=NA;NP=857;PC=0.007;Gene=ANKRD36/NM_001164315.1/1;CC=c.1595C>T;ProtCh=p.A532V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:180:117:0:0:87,93:2968,2804:0.00,270.51:0.00,184.99:0.00,85.52:0.00,1.00:0.00,1.00:0.00,1.00:44,43:6.1,96.3:0,0:0,0:93,63:49,88:26,22:-,NM_001164315.1(ANKRD36) c.1595C>T (p.Ala532Val):-,NOT_FOUND:-,NOT_FOUND 2 97833505 . G . . NT END=97845474;NT GT ./. 2 97833546 rs200919671 G A 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=NA;NP=9;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:50:0:0:19,115:551,3742:40.52,0.00:11.87,0.00:28.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,59:164.5,83.8:0,0:0,0:79,94:71,51:37,35:NM_001164315.1(ANKRD36) c.1633+42G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97833553 rs76811792 C T 291 nt VT=SNV;PN=A;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=0.022;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:131:44:0:0:40,91:1323,2825:0.00,290.79:0.00,66.20:0.00,224.59:0.00,1.00:0.00,1.00:0.00,1.00:57,60:7.3,142.3:0,0:0,0:93,80:52,70:39,32:-,NM_001164315.1(ANKRD36) c.1633+49C>T:-,NOT_FOUND:-,NOT_FOUND 2 97833567 rs76160111 A G 219 nt VT=SNV;PN=T;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:116:24:0:0:45,1,70:1533,13,2188:0.00,0.00,218.63:0.00,-0.03,26.00:0.00,0.03,192.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:59,25,60:39.5,169.0,164.8:0,0,0:0,0,0:80,86,85:71,65,65:33,0,26:-,NM_001164315.1(ANKRD36) c.1633+63A>G:-,NOT_FOUND:-,NOT_FOUND 2 97833569 rs78400826 C T 276 nt VT=SNV;PN=G;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+65C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:113:23:0:0:32,81:989,2661:0.00,275.50:0.00,29.97:0.00,245.53:0.00,1.00:0.00,1.00:0.00,1.00:57,60:7.7,162.3:0,0:0,0:92,78:53,73:33,28:-,NM_001164315.1(ANKRD36) c.1633+65C>T:-,NOT_FOUND:-,NOT_FOUND 2 97833583 rs72945197 C T 277 nt VT=SNV;PN=A;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=148;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:115:13:0:0:31,1,83:973,13,2668:0.00,0.06,277.47:0.00,-0.01,16.21:0.00,0.07,261.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:58,25,60:8.5,169.0,163.3:0,0,0:0,0,0:96,102,83:55,49,68:32,0,32:-,NM_001164315.1(ANKRD36) c.1633+79C>T:-,NOT_FOUND:-,NOT_FOUND 2 97833651 rs72945198 C A 186 nt VT=SNV;PN=G;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+147C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:71:0:0:0:57,13,1:1740,423,10:186.48,0.00,0.06:0.00,0.00,0.00:186.48,0.00,0.06:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,59,52:167.2,8.7,78.0:0,0,0:0,0,0:109,96,42:40,55,109:34,20,0:NM_001164315.1(ANKRD36) c.1633+147C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97833689 rs78030892 T G 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.020;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+185T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:41:0:0:0:29,12:949,310:98.04,0.00:0.00,0.00:98.04,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,59:160.5,28.3:0,0:0,0:107,113:44,36:24,33:NM_001164315.1(ANKRD36) c.1633+185T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 97833692 rs80345983 A T 92 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+188A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:39:0:0:0:11,28:299,886:0.00,91.88:0.00,0.00:0.00,91.88:0.00,1.00:0.00,0.00:0.00,1.00:59,60:17.4,160.0:0,0:0,0:117,102:31,48:32,21:-,NM_001164315.1(ANKRD36) c.1633+188A>T:-,NOT_FOUND:-,NOT_FOUND 2 97833741 rs80114437 G T 46 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;PC=0.008;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+237G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:G,T:20:0:0:0:5,15:162,437:0.00,45.93:0.00,0.00:0.00,45.93:0.00,1.00:0.00,0.00:0.00,1.00:59,56:31.6,153.5:0,13:0,0:115,122:31,25:17,13:-,NM_001164315.1(ANKRD36) c.1633+237G>T:-,NOT_FOUND:-,NOT_FOUND 2 97833743 rs66897564 TC T 34 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=39;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+242delC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:TC,T:19:0:0:13:6,13:199,330:0.00,33.69:0.00,0.00:0.00,33.69:0.00,1.00:0.00,0.00:0.00,1.00:59,56:52.7,154.6:0,0:0,0:125,124:23,23:16,9:-,NM_001164315.1(ANKRD36) c.1633+240delC:-,NOT_FOUND:-,NOT_FOUND 2 97833761 rs2924013 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+257G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:13:0:0:0:10,3:280,79:29.71,0.00:0.00,0.00:29.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:51,59:159.9,26.7:0,0:0,0:140,126:11,16:5,9:NM_001164315.1(ANKRD36) c.1633+257G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97834759 rs142684662 G A 8 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9;PC=0.309;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+1255G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:2:0:0:3,1:80,33:8.45,0.00:1.95,0.00:6.50,0.00:0.85,0.00:0.95,0.00:0.99,0.00:40,21:177.7,68.0:0,0:0,0:22,1:129,121:20,0:NM_001164315.1(ANKRD36) c.1633+1255G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97834823 rs140556047 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=677;PC=0.010;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+1319C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:2:0:0:1,3:36,91:0.00,9.55:0.00,2.15:0.00,7.40:0.00,0.85:0.00,0.95:0.00,0.99:21,40:70.0,177.7:0,0:0,0:65,86:57,65:0,20:-,NM_001164315.1(ANKRD36) c.1633+1319C>T:-,NOT_FOUND:-,NOT_FOUND 2 97838596 . A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;NP=7;PC=0.019;Gene=ANKRD36/NM_001164315.1/1;CC=c.1633+5092A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:4:0:1:3,2:100,70:0.00,6.49:0.00,3.25:0.00,3.25:0.00,0.46:0.00,0.87:0.00,0.87:56,43:49.0,35.0:0,0:0,0:54,67:97,8:21,11:-,NM_001164315.1(ANKRD36) c.1633+5092A>G:-,NOT_FOUND:-,NOT_FOUND 2 97845504 . G . . NT END=97845597;NT GT ./. 2 97845632 rs200833680 T C 34 lc VT=SNV;PN=A;NN=A;SST=Single;DP=197;DB;DBA=NA;PAF=NA;NP=1978;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.1697T>C;ProtCh=p.I566T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,T:197:98:0:0:15,182:501,5800:34.31,0.00:7.72,0.00:26.59,0.00:1.00,0.00:0.99,0.00:1.00,0.00:40,60:249.7,7.7:0,0:0,0:62,86:66,62:8,29:NM_001164315.1(ANKRD36) c.1697T>C (p.Ile566Thr),-:NOT_FOUND,-:NOT_FOUND,- 2 97845650 rs75965578 A G 30 lc VT=SNV;PN=G;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=NA;NP=2269;PC=0.230;Gene=ANKRD36/NM_001164315.1/1;CC=c.1715A>G;ProtCh=p.E572G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G,T:177:85:0:0:161,15,1:5329,451,11:0.00,30.19,-0.34:0.00,7.42,-0.15:0.00,22.77,-0.19:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,40,60:7.3,250.2,73.0:0,0,0:0,0,0:87,80,26:59,48,124:31,8,0:-,NM_001164315.1(ANKRD36) c.1715A>G (p.Glu572Gly):-,NOT_FOUND:-,NOT_FOUND 2 97845671 . G . . NT END=97847334;NT GT ./. 2 97845699 rs199994375 T C 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=167;PC=0.009;Gene=ANKRD36/NM_001164315.1/1;CC=c.1735+29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,T:118:48:0:0:13,105:398,3453:28.25,0.00:6.01,0.00:22.24,0.00:1.00,0.00:0.98,0.00:1.00,0.00:40,60:257.3,9.8:0,0:0,0:134,102:1,46:6,27:NM_001164315.1(ANKRD36) c.1735+29T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97846021 rs11682519 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6627,T/0.3373;Gene=ANKRD36/NM_001164315.1/1;CC=c.1735+351C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:4:0:0:0:1,3:29,94:0.00,9.85:0.00,0.00:0.00,9.85:0.00,0.85:0.00,0.00:0.00,0.85:60,60:7.0,52.0:0,0:0,0:108,121:42,30:0,12:-,NM_001164315.1(ANKRD36) c.1735+351C>T:-,0.42:-,NOT_FOUND 2 97847056 rs373749712 G A 26 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.016;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-279G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:8,10:272,285:25.65,0.00:25.65,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:1,50:142.4,14.0:0,0:0,0:31,45:119,106:6,19:NM_001164315.1(ANKRD36) c.1736-279G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97847101 . T C 38 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-234T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:29:0:0:13,16:400,509:37.51,0.00:37.51,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:1,40:143.3,22.1:0,0:0,0:64,48:87,102:15,37:NM_001164315.1(ANKRD36) c.1736-234T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97847102 . G A 40 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-233G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:29:0:0:13,16:425,498:40.03,0.00:40.03,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:1,40:143.3,22.1:0,0:0,0:65,49:86,101:15,37:NM_001164315.1(ANKRD36) c.1736-233G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97847185 rs201699879 A G 139 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-150A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:123:123:0:0:43,51,29:1321,1439,994:0.00,138.63,90.05:0.00,138.75,90.11:0.00,-0.12,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.61,0.00:46,9,27:11.8,203.1,175.1:0,0,0:0,0,0:42,36,53:108,115,89:32,22,24:-,NM_001164315.1(ANKRD36) c.1736-150A>G:-,NOT_FOUND:-,NOT_FOUND 2 97847212 rs200127222 A G 339 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=165;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:165:163:0:0:56,108,1:1746,3330,11:0.00,338.69,-0.07:0.00,298.62,-0.06:0.00,40.07,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:46,9,1:10.2,209.8,116.0:0,0,0:0,0,0:52,39,103:97,111,48:36,31,0:-,NM_001164315.1(ANKRD36) c.1736-123A>G:-,NOT_FOUND:-,NOT_FOUND 2 97847235 rs79531049 A G 428 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=208;DB;DBA=NA;PAF=NA;NP=5;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:208:191:0:0:72,123,13:2153,4249,420:0.00,427.77,30.67:0.00,264.49,17.46:0.00,163.28,13.22:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:46,9,9:9.4,208.0,195.5:0,0,0:0,0,0:51,31,25:98,118,126:32,23,17:-,NM_001164315.1(ANKRD36) c.1736-100A>G:-,NOT_FOUND:-,NOT_FOUND 2 97847259 rs201815388 G A 481 nt VT=SNV;PN=T;NN=C;SST=Single;DP=241;DB;DBA=NA;PAF=NA;NP=1;PC=0.104;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:241:207:0:0:146,93,2:4804,3144,20:480.64,0.00,-0.15:248.55,0.00,-0.06:232.09,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:31,52,46:205.2,5.5,93.5:0,0,0:0,0,0:46,41,134:102,108,17:21,28,16:NM_001164315.1(ANKRD36) c.1736-76G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97847260 rs199927027 C A 482 nt VT=SNV;PN=G;NN=T;SST=Single;DP=240;DB;DBA=NA;PAF=NA;NP=1;PC=0.120;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-75C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:240:206:0:0:146,93,1:4820,3142,9:482.20,0.00,-0.13:252.68,0.00,-0.09:229.53,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:31,52,45:204.4,5.1,73.0:0,0,0:0,0,0:49,42,48:99,107,102:25,29,0:NM_001164315.1(ANKRD36) c.1736-75C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97847272 rs376108059 GA G 72 mq,nt VT=DEL;SST=Single;DP=246;DB;DBA=NA;PAF=NA;NP=13;PC=0.126;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-61delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:246:202:0:143:103,143:3410,950:0.00,71.84:0.00,25.02:0.00,46.81:0.00,1.00:0.00,1.00:0.00,1.00:53,9:17.2,207.0:1,0:0,0:52,61:97,87:27,21:-,NM_001164315.1(ANKRD36) c.1736-62delA:-,NOT_FOUND:-,NOT_FOUND 2 97847276 . G A 313 idl;mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=243;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-59G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:243:195:0:0:101,142:3366,4764:313.20,0.00:121.37,0.00:191.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:9,53:199.4,66.5:101,40:0,0:55,56:90,91:16,23:NM_001164315.1(ANKRD36) c.1736-59G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97847296 . T C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=254;NP=3;PC=0.085;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-39T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:254:195:0:0:26,228:869,7487:62.91,0.00:24.89,0.00:38.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:31,60:214.0,93.3:0,0:0,0:84,61:65,72:17,18:NM_001164315.1(ANKRD36) c.1736-39T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97847303 rs372292741 G A 432 nt VT=SNV;PN=T;NN=T;SST=Single;DP=269;DB;DBA=NA;PAF=NA;NP=1084;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:269:201:0:0:135,134:4488,4338:432.27,0.00:129.57,0.00:302.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,53:199.3,9.9:0,0:0,0:79,56:64,94:13,34:NM_001164315.1(ANKRD36) c.1736-32G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97847317 rs377167853 T A 424 nt VT=SNV;PN=T;NN=T;SST=Single;DP=286;DB;DBA=NA;PAF=NA;NP=919;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.1736-18T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:286:201:0:0:134,152:4455,4856:423.55,0.00:107.30,0.00:316.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,60:192.1,8.8:0,0:0,0:90,56:51,91:13,33:NM_001164315.1(ANKRD36) c.1736-18T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97847364 . G . . NT END=97847457;NT GT ./. 2 97847531 . G . . NT END=97849195;NT GT ./. 2 97847606 rs2443851 A G 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1837+76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:53:3:0:0:28,1,24:869,9,757:0.00,-0.09,71.58:0.00,-0.02,-0.65:0.00,-0.07,72.23:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,43,50:14.0,9.0,39.4:0,0,0:0,0,0:114,118,120:37,33,30:25,0,21:-,NM_001164315.1(ANKRD36) c.1837+76A>G:-,0.4:-,NOT_FOUND 2 97849219 rs12996352 T C 142 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.6098,C/0.3902;PC=0.244;Gene=ANKRD36/NM_001164315.1/1;CC=c.1861T>C;ProtCh=p.W621R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:123:95:0:0:53,70:1531,2344:141.68,0.00:92.90,0.00:48.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,5.7:0,0:0,0:70,68:77,75:29,31:NM_001164315.1(ANKRD36) c.1861T>C (p.Trp621Arg),-:0.46,-:NOT_FOUND,- 2 97849225 . G . . NT END=97849318;NT GT ./. 2 97849392 . G . . NT END=97851052;NT GT ./. 2 97849669 rs7588752 T G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3205,G/0.6795;Gene=ANKRD36/NM_001164315.1/1;CC=c.1939+278T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:199:23.19:0.00:23.19:1.00:0.00:1.00:40:39.6:0:0:47:103:39:NM_001164315.1(ANKRD36) c.1939+278T>G,NM_001164315.1(ANKRD36) c.1939+278T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 97851069 rs62154801 A G 239 lc VT=SNV;PN=A;NN=C;SST=Single;DP=200;DB;DBA=NA;PAF=NA;PC=0.007;Gene=ANKRD36/NM_001164315.1/1;CC=c.1956A>G;ProtCh=p.Q652=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:200:129:0:0:123,1,75,1:3836,11,2603,10:0.00,-0.20,239.08,-0.21:0.00,-0.13,124.19,-0.13:0.00,-0.07,114.88,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:56,33,51,42:29.7,62.0,37.9,163.0:1,0,0,0:0,0,0,0:81,39,77,70:58,110,67,61:26,0,21,0:-,NM_001164315.1(ANKRD36) c.1956A>G (p.(=)):-,0.44:-,0.615688 2 97851082 . G . . NT END=97851174;NT GT ./. 2 97851200 rs75833559 C T 26 sb,lc VT=SNV;PN=G;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.1994C>T;ProtCh=p.A665V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:138:60:0:0:125,13:4165,381:0.00,25.67:0.00,-1.95:0.00,27.62:0.00,1.00:0.00,0.98:0.00,1.00:60,27:5.4,264.8:0,0:0,0:79,103:68,30:31,10:-,NM_001164315.1(ANKRD36) c.1994C>T (p.Ala665Val):-,NOT_FOUND:-,NOT_FOUND 2 97851248 . G . . NT END=97852934;NT GT ./. 2 97852964 . G . . NT END=97853065;NT GT ./. 2 97853139 . G . . NT END=97854823;NT GT ./. 2 97854853 . G . . NT END=97854954;NT GT ./. 2 97855028 . G . . NT END=97856714;NT GT ./. 2 97855285 rs7594356 C T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7945,T/0.2055;Gene=ANKRD36/NM_001164315.1/1;CC=c.2245+258C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:206:23.93:0.00:23.93:1.00:0.00:1.00:60:79.3:0:0:84:66:19:NM_001164315.1(ANKRD36) c.2245+258C>T,NM_001164315.1(ANKRD36) c.2245+258C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 2 97856461 rs62154807 G A 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6488,A/0.3512;NP=873;Gene=ANKRD36/NM_001164315.1/1;CC=c.2246-254G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:12,12:402,306:38.75,0.00:38.75,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,55:44.3,12.4:0,0:0,0:48,39:98,108:25,32:NM_001164315.1(ANKRD36) c.2246-254G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97856744 . G . . NT END=97856845;NT GT ./. 2 97856919 . G . . NT END=97858594;NT GT ./. 2 97857179 rs13032546 G C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6655,C/0.3345;PC=0.019;Gene=ANKRD36/NM_001164315.1/1;CC=c.2347+261G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:C,G:9:0:0:0:4,5:83,160:7.44,0.00:0.00,0.00:7.44,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:23.2,2.2:0,0:0,0:89,125:59,26:34,19:NM_001164315.1(ANKRD36) c.2347+261G>C,-:0.43,-:NOT_FOUND,- 2 97858624 . G . . NT END=97858717;NT GT ./. 2 97858791 . G . . NT END=97860462;NT GT ./. 2 97859067 rs115409152 A G 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.2449+277A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:40:81.8:0:0:91:58:13:NM_001164315.1(ANKRD36) c.2449+277A>G,NM_001164315.1(ANKRD36) c.2449+277A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 97860223 rs4530406 C T 106 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.3632,T/0.6368;PC=0.007;Gene=ANKRD36/NM_001164315.1/1;CC=c.2450-240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:30:0:0:30:916:105.86:105.86:0.00:1.00:1.00:0.00:60:41.0:0:0:58:92:39:NM_001164315.1(ANKRD36) c.2450-240C>T,NM_001164315.1(ANKRD36) c.2450-240C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 2 97860311 rs79236556 A T 16 mq,nt VT=SNV;PN=G;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;PC=0.007;Gene=ANKRD36/NM_001164315.1/1;CC=c.2450-152A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,T:72:71:0:0:64,8:1991,231:0.00,16.09:0.00,16.16:0.00,-0.08:0.00,0.94:0.00,1.00:0.00,0.34:60,15:13.5,209.9:0,0:0,0:58,9:92,142:35,4:-,NM_001164315.1(ANKRD36) c.2450-152A>T:-,NOT_FOUND:-,NOT_FOUND 2 97860320 rs11677673 G T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.2450-143G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:80:78:0:0:69,11:2191,355:0.00,26.85:0.00,27.08:0.00,-0.22:0.00,0.99:0.00,1.00:0.00,0.51:60,37:11.0,199.0:0,0:0,0:56,17:95,134:33,9:-,NM_001164315.1(ANKRD36) c.2450-143G>T:-,NOT_FOUND:-,NOT_FOUND 2 97860332 rs77953976 G C 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.2450-131G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:93:91:0:0:18,75:594,2445:48.16,0.00:48.58,0.00:-0.42,0.00:1.00,0.00:1.00,0.00:0.74,0.00:37,60:172.0,12.1:0,0:0,0:19,59:130,91:12,33:NM_001164315.1(ANKRD36) c.2450-131G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97860353 rs546043390 G C 52 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=G/0.9557,C/0.04433;Gene=ANKRD36/NM_001164315.1/1;CC=c.2450-110G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:116:113:0:0:20,96:652,2821:51.62,0.00:52.44,0.00:-0.82,0.00:1.00,0.00:1.00,0.00:0.91,0.00:39,60:164.6,12.9:0,0:0,0:39,48:111,102:12,37:NM_001164315.1(ANKRD36) c.2450-110G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97860354 rs556452471 T C 52 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=T/0.9557,C/0.04433;Gene=ANKRD36/NM_001164315.1/1;CC=c.2450-109T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:119:115:0:0:20,99:656,3032:51.76,0.00:52.64,0.00:-0.88,0.00:1.00,0.00:1.00,0.00:0.92,0.00:39,60:164.6,13.1:0,0:0,0:40,50:110,101:12,38:NM_001164315.1(ANKRD36) c.2450-109T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97860355 rs199905832 A C 53 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=A/0.9557,C/0.04433;Gene=ANKRD36/NM_001164315.1/1;CC=c.2450-108A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:117:113:0:0:96,21:2995,664:0.00,52.54:0.00,53.48:0.00,-0.94:0.00,1.00:0.00,1.00:0.00,0.93:60,40:12.7,158.6:0,0:0,0:51,41:100,110:38,13:-,NM_001164315.1(ANKRD36) c.2450-108A>C:-,NOT_FOUND:-,NOT_FOUND 2 97860487 rs59466168 T C 260 lc VT=SNV;PN=T;NN=G;SST=Single;DP=266;DB;DBA=NA;PAF=NA;NP=2603;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2474T>C;ProtCh=p.L825S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:266:180:0:0:1,92,1,172:11,2906,10,5561:-0.24,260.26,-0.26,0.00:-0.16,137.77,-0.12,0.00:-0.09,122.48,-0.14,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,60,60,60:140.0,35.5,134.0,18.8:0,0,0,0:0,0,0,0:116,80,74,66:-9,69,56,78:0,28,0,30:NM_001164315.1(ANKRD36) c.2474T>C (p.Leu825Ser),-:NOT_FOUND,-:NOT_FOUND,- 2 97860492 . G . . NT END=97860581;NT GT ./. 2 97860529 rs149975528 G A 263 nt VT=SNV;PN=C;NN=T;SST=Single;DP=263;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.2478+38G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:263:149:0:0:89,174:2932,5557:262.65,0.00:106.80,0.00:155.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,18.6:0,0:0,0:104,86:44,63:30,28:NM_001164315.1(ANKRD36) c.2478+38G>A,-:0.11,-:NOT_FOUND,- 2 97860655 . G . . NT END=97862329;NT GT ./. 2 97860738 rs62154813 A G 81 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=817;Gene=ANKRD36/NM_001164315.1/1;CC=c.2551+84A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:71:6:0:0:45,26:1437,892:0.00,81.37:0.00,0.93:0.00,80.43:0.00,1.00:0.00,0.92:0.00,1.00:60,60:6.6,37.5:0,0:0,0:107,87:44,63:22,30:-,NM_001164315.1(ANKRD36) c.2551+84A>G:-,NOT_FOUND:-,NOT_FOUND 2 97860971 rs13005712 G A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5264,A/0.4736;NP=396;PC=0.006;Gene=ANKRD36/NM_001164315.1/1;CC=c.2551+317G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:5:0:0:0:4,1:105,33:11.30,0.00:0.00,0.00:11.30,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:58.8,0.0:0,0:0,0:113,111:37,39:18,0:NM_001164315.1(ANKRD36) c.2551+317G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97862060 rs74801540 G GC 29 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5276,GC/0.4724;NP=822;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2552-270_2552-269insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:17:17:9:0:8,9:240,299:0.00,29.11:0.00,29.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.6,6.6:0,0:0,0:89,44:61,107:28,27:-,NM_001164315.1(ANKRD36) c.2552-270_2552-269insC:-,0.52:-,NOT_FOUND 2 97862260 rs1901501 T A 539 nt VT=SNV;PN=C;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.3247,A/0.6753;PC=0.005;Gene=ANKRD36/NM_001164315.1/1;CC=c.2552-70T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:142:129:0:0:142:4714:539.08:429.37:109.71:1.00:1.00:1.00:60:38.0:0:0:45:102:30:NM_001164315.1(ANKRD36) c.2552-70T>A,NM_001164315.1(ANKRD36) c.2552-70T>A:0.75,0.75:0.879325,0.879325 2 97862359 . G . . NT END=97862452;NT GT ./. 2 97862396 rs7573581 G A 189 nt VT=SNV;PN=T;NN=T;SST=Single;DP=229;DB;DBA=NA;PAF=NA;NP=2266;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.2580+38G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:229:143:0:0:69,158,2:2164,5245,20:188.76,0.00,-0.44:98.16,0.00,-0.29:90.59,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.3,13.0,91.0:0,0,0:0,0,0:90,99,82:59,50,68:34,29,31:NM_001164315.1(ANKRD36) c.2580+38G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97862526 . G . . NT END=97864199;NT GT ./. 2 97862656 rs4577322 C T 120 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.5525,T/0.4475;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2653+131C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:1:0:0:17,37:597,1174:0.00,120.43:0.00,-0.50:0.00,120.93:0.00,1.00:0.00,0.79:0.00,1.00:60,60:7.0,41.9:0,0:0,0:107,100:44,50:30,32:-,NM_001164315.1(ANKRD36) c.2653+131C>T:-,0.53:-,NOT_FOUND 2 97864229 . G . . NT END=97864322;NT GT ./. 2 97864288 rs56159881 T C 569 nt VT=SNV;PN=T;NN=A;SST=Single;DP=269;DB;DBA=NA;PAF=T/0.596,C/0.404;Gene=ANKRD36/NM_001164315.1/1;CC=c.2683-35T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:269:164:0:0:170,1,98:5641,10,2993:568.75,-0.13,0.00:293.44,-0.03,0.00:275.30,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,56,60:94.7,77.0,9.4:0,0,0:0,0,0:79,93,64:71,58,86:37,0,50:NM_001164315.1(ANKRD36) c.2683-35T>C,-:0.5,-:NOT_FOUND,- 2 97864333 rs61218502 C A 493 lc VT=SNV;PN=G;NN=C;SST=Single;DP=233;DB;DBA=NA;PAF=C/0.5954,A/0.4046;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2693C>A;ProtCh=p.A898D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:233:124:0:0:150,82,1:4864,2571,13:492.60,0.00,-0.05:205.66,0.00,-0.05:286.93,0.00,-0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,55:113.4,4.1,69.0:0,0,0:0,0,0:81,58,56:70,85,53:36,25,0:NM_001164315.1(ANKRD36) c.2693C>A (p.Ala898Asp),-:NOT_FOUND,-:NOT_FOUND,- 2 97864334 rs56835800 C T 484 lc VT=SNV;PN=C;NN=G;SST=Single;DP=236;DB;DBA=NA;PAF=C/0.5954,T/0.4046;Gene=ANKRD36/NM_001164315.1/1;CC=c.2694C>T;ProtCh=p.A898=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:236:127:0:0:3,84,1,148:36,2500,14,4796:0.13,0.00,-0.04,484.27:-0.18,0.00,-0.06,201.68:0.31,0.00,0.02,282.59:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,55,60:70.3,4.4,69.0,113.5:0,0,0,0:0,0,0,0:31,59,57,77:119,84,52,72:30,26,0,36:-,NM_001164315.1(ANKRD36) c.2694C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 97864374 rs60795069 G T 374 lc VT=SNV;PN=G;NN=A;SST=Single;DP=207;DB;DBA=NA;PAF=G/0.5954,T/0.4046;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2734G>T;ProtCh=p.D912Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:207:107:0:0:84,123:2794,3759:0.00,373.57:0.00,134.91:0.00,238.66:0.00,1.00:0.00,1.00:0.00,1.00:60,58:5.3,106.4:0,0:0,0:87,83:55,61:28,23:-,NM_001164315.1(ANKRD36) c.2734G>T (p.Asp912Tyr):-,NOT_FOUND:-,NOT_FOUND 2 97864396 . G . . NT END=97866070;NT GT ./. 2 97864653 rs201479923 C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=13;Gene=ANKRD36/NM_001164315.1/1;CC=c.2755+258C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:11,8:299,232:0.00,21.41:0.00,0.00:0.00,21.41:0.00,0.99:0.00,0.00:0.00,0.99:42,40:25.0,47.4:0,0:0,0:114,120:36,30:23,23:-,NM_001164315.1(ANKRD36) c.2755+258C>T:-,NOT_FOUND:-,NOT_FOUND 2 97865829 rs1839920 A G 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.018;Gene=ANKRD36/NM_001164315.1/1;CC=c.2756-242A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,G:27:27:0:0:21,6:637,210:0.00,17.66:0.00,16.05:0.00,1.61:0.00,0.91:0.00,0.91:0.00,0.48:60,60:10.8,35.0:0,0:0,0:43,50:106,100:23,13:-,NM_001164315.1(ANKRD36) c.2756-242A>G:-,NOT_FOUND:-,NOT_FOUND 2 97866100 . G . . NT END=97866189;NT GT ./. 2 97866263 . G . . NT END=97867938;NT GT ./. 2 97866299 rs56289967 C A 132 nt VT=SNV;PN=T;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=NA;NP=908;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.2857+37C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:152:55:0:0:48,103,1:1497,3257,10:131.59,0.00,-0.24:32.27,0.00,-0.08:99.32,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.3,9.2,162.0:0,0,0:0,0,0:109,109,41:40,41,110:19,23,0:NM_001164315.1(ANKRD36) c.2857+37C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97866370 rs55879702 A G 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2857+108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:2:0:0:57,19:1927,617:0.00,52.21:0.00,-0.19:0.00,52.40:0.00,1.00:0.00,0.53:0.00,1.00:60,60:16.8,55.7:0,0:0,0:92,99:59,52:22,44:-,NM_001164315.1(ANKRD36) c.2857+108A>G:-,NOT_FOUND:-,NOT_FOUND 2 97866442 rs113485946 T C 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.9521,C/0.04792;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2857+180T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:1:0:0:17,28:442,905:39.25,0.00:-0.10,0.00:39.35,0.00:1.00,0.00:0.59,0.00:1.00,0.00:60,60:32.4,10.9:0,0:0,0:81,86:68,64:51,38:NM_001164315.1(ANKRD36) c.2857+180T>C,-:0.05,-:NOT_FOUND,- 2 97867626 rs56324819 A C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=421;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2858-313A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,C:8:8:0:0:3,5:73,173:0.00,17.44:0.00,17.44:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:41.3,41.6:0,0:0,0:63,46:86,105:20,34:-,NM_001164315.1(ANKRD36) c.2858-313A>C:-,NOT_FOUND:-,NOT_FOUND 2 97867870 rs9324211 G C 397 nt VT=SNV;PN=A;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.522,C/0.478;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.2858-69G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:105:90:0:0:105:3466:396.56:286.23:110.34:1.00:1.00:1.00:60:43.9:0:0:47:103:30:NM_001164315.1(ANKRD36) c.2858-69G>C,NM_001164315.1(ANKRD36) c.2858-69G>C:0.57,0.57:NOT_FOUND,NOT_FOUND 2 97867968 . G . . NT END=97868057;NT GT ./. 2 97868131 . G . . NT END=97869804;NT GT ./. 2 97869539 rs6577003 A G 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3051,G/0.6949;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.2960-266A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:8:0:0:9:259:30.18:26.60:3.58:1.00:1.00:1.00:60:43.8:0:0:42:109:37:NM_001164315.1(ANKRD36) c.2960-266A>G,NM_001164315.1(ANKRD36) c.2960-266A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 2 97869834 . G . . NT END=97869927;NT GT ./. 2 97870001 . G . . NT END=97871676;NT GT ./. 2 97870051 rs6577004 G A 173 nt VT=SNV;PN=A;NN=T;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=1014;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.3061+51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:147:36:0:0:59,88:1876,2919:172.73,0.00:23.80,0.00:148.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,18.5:0,0:0,0:114,99:36,49:29,36:NM_001164315.1(ANKRD36) c.3061+51G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97870072 rs13393893 A T 119 nt VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.8225,T/0.1775;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.3061+72A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:123:12:0:0:83,40:2773,1336:0.00,118.99:0.00,7.60:0.00,111.40:0.00,1.00:0.00,0.98:0.00,1.00:60,60:25.6,34.5:0,1:0,0:88,85:63,64:39,40:-,NM_001164315.1(ANKRD36) c.3061+72A>T:-,0.17:-,NOT_FOUND 2 97870181 rs56919918 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=334;Gene=ANKRD36/NM_001164315.1/1;CC=c.3061+181A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:1:0:0:34,8:1041,276:0.00,22.54:0.00,-0.09:0.00,22.63:0.00,0.97:0.00,0.46:0.00,1.00:44,40:23.9,35.6:0,0:0,0:115,136:35,14:23,4:-,NM_001164315.1(ANKRD36) c.3061+181A>G:-,NOT_FOUND:-,NOT_FOUND 2 97870247 rs3926003 A G 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6294,G/0.3706;PC=0.005;Gene=ANKRD36/NM_001164315.1/1;CC=c.3061+247A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,G:12:0:0:0:3,9:99,302:0.00,31.56:0.00,0.00:0.00,31.56:0.00,1.00:0.00,0.00:0.00,1.00:42,44:0.0,48.6:0,0:0,0:123,123:25,26:18,18:-,NM_001164315.1(ANKRD36) c.3061+247A>G:-,0.47:-,NOT_FOUND 2 97871442 rs4524160 G A 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.61,A/0.39;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.3062-235G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:A,G:18:18:0:0:7,11:188,298:16.94,0.00:16.94,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:43.3,5.3:0,0:0,0:54,43:97,107:27,18:NM_001164315.1(ANKRD36) c.3062-235G>A,-:0.43,-:NOT_FOUND,- 2 97871626 rs13400545 A G 154 nt VT=SNV;PN=T;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.894,G/0.106;Gene=ANKRD36/NM_001164315.1/1;CC=c.3062-51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:85:74:0:0:38,47:1206,1572:0.00,154.22:0.00,105.57:0.00,48.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.2,38.9:0,0:0,0:30,68:116,82:21,36:-,NM_001164315.1(ANKRD36) c.3062-51A>G:-,0.12:-,NOT_FOUND 2 97871706 . G . . NT END=97871799;NT GT ./. 2 97871873 . G . . NT END=97873547;NT GT ./. 2 97871906 rs114192053 G A 117 nt VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.9523,A/0.04772;PC=0.003;Gene=ANKRD36/NM_001164315.1/1;CC=c.3163+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:23:0:0:39,29:1189,941:117.26,0.00:20.36,0.00:96.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,7.3:0,0:0,0:115,94:35,40:24,30:NM_001164315.1(ANKRD36) c.3163+34G>A,-:0.05,-:NOT_FOUND,- 2 97872148 rs13028622 T G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6032,G/0.3968;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.3163+276T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:G,T:6:0:0:0:4,2:128,69:13.05,0.00:0.00,0.00:13.05,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:32.0,0.0:0,0:0,0:69,107:81,41:29,10:NM_001164315.1(ANKRD36) c.3163+276T>G,-:0.48,-:NOT_FOUND,- 2 97873226 . A G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;NP=1;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.3164-322A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G:13:13:0:0:10,3:283,100:0.00,8.39:0.00,8.39:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,55:17.7,41.0:0,0:0,0:43,26:108,122:30,8:-,NM_001164315.1(ANKRD36) c.3164-322A>G:-,NOT_FOUND:-,NOT_FOUND 2 97873393 rs6718582 C T 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.639,T/0.361;PC=0.620;Gene=ANKRD36/NM_001164315.1/1;CC=c.3164-155C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:54:54:0:0:35,19:1163,601:0.00,53.94:0.00,54.03:0.00,-0.09:0.00,1.00:0.00,1.00:0.00,0.57:60,60:9.5,47.0:0,0:0,0:55,53:94,98:42,28:-,NM_001164315.1(ANKRD36) c.3164-155C>T:-,0.44:-,NOT_FOUND 2 97873515 rs4063410 C T 202 nt VT=SNV;PN=A;NN=A;SST=Single;DP=149;DB;DBA=NA;PAF=C/0.5673,T/0.4327;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.3164-33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:149:123:0:0:1,79,1,68:10,2714,10,2136:-0.17,0.00,-0.17,201.79:-0.14,0.00,-0.07,154.92:-0.03,0.00,-0.10,46.87:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:2,60,3,57:134.0,7.1,245.0,49.3:0,0,0,0:0,0,0,0:43,50,95,65:107,96,28,84:0,25,0,33:-,NM_001164315.1(ANKRD36) c.3164-33C>T:-,0.44:-,NOT_FOUND 2 97873577 . G . . NT END=97873670;NT GT ./. 2 97873630 rs12052928 A T 254 nt VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=A/0.6392,T/0.3608;Gene=ANKRD36/NM_001164315.1/1;CC=c.3193-41A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:126:57:0:0:45,81:1415,2515:0.00,254.31:0.00,127.60:0.00,126.70:0.00,1.00:0.00,1.00:0.00,1.00:51,60:52.2,47.0:0,0:0,0:119,85:31,66:21,36:-,NM_001164315.1(ANKRD36) c.3193-41A>T:-,0.42:-,NOT_FOUND 2 97873657 rs13419360 G C 67 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=NA;PC=0.022;Gene=ANKRD36/NM_001164315.1/1;CC=c.3193-14G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:104:46:0:0:25,79:798,2551:66.85,0.00:-2.92,0.00:69.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:84.4,37.2:0,0:0,0:119,75:31,75:26,40:NM_001164315.1(ANKRD36) c.3193-14G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97873681 rs76295552 C A 45 lc VT=SNV;PN=G;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.9259,A/0.07408;PC=0.011;Gene=ANKRD36/NM_001164315.1/1;CC=c.3203C>A;ProtCh=p.A1068D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:94:40:0:0:19,73,1,1:565,2361,15,10:45.24,0.00,-0.05,-0.24:3.37,0.00,-0.14,-0.14:41.87,0.00,0.09,-0.10:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,60,42,56:107.2,28.6,29.0,106.0:0,0,0,0:0,0,0,0:115,79,6,76:33,69,145,70:24,30,0,0:NM_001164315.1(ANKRD36) c.3203C>A (p.Ala1068Asp),-:NOT_FOUND,-:NOT_FOUND,- 2 97873701 rs532945164 A T 19 sb,lc VT=SNV;PN=G;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.9631,T/0.03694;Gene=ANKRD36/NM_001164315.1/1;CC=c.3223A>T;ProtCh=p.N1075Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,T:86:37:0:0:77,9:2383,269:0.00,18.80:0.00,-1.25:0.00,20.05:0.00,0.96:0.00,0.94:0.00,1.00:60,39:28.2,139.1:0,0:0,0:75,125:71,21:35,12:-,NM_001164315.1(ANKRD36) c.3223A>T (p.Asn1075Tyr):-,NOT_FOUND:-,NOT_FOUND 2 97873744 . G . . NT END=97875417;NT GT ./. 2 97875056 rs57032455 G A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=336;Gene=ANKRD36/NM_001164315.1/1;CC=c.3266-362G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:7:7:0:0:4,3:134,78:13.25,0.00:13.25,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:33.5,18.3:0,0:0,0:29,77:122,74:15,26:NM_001164315.1(ANKRD36) c.3266-362G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97875242 . G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;Gene=ANKRD36/NM_001164315.1/1;CC=c.3266-176G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C,G:57:57:0:0:6,1,50:187,13,1632:13.29,-0.09,0.00:13.29,-0.09,0.00:0.00,0.00,0.00:0.83,0.00,0.00:0.83,0.00,0.00:0.00,0.00,0.00:40,60,60:138.0,107.0,12.2:0,0,0:0,0,0:11,12,47:139,139,103:6,0,33:NM_001164315.1(ANKRD36) c.3266-176G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97875247 . C CT 10 nt VT=INS;SST=Single;DP=60;Gene=ANKRD36/NM_001164315.1/1;CC=c.3266-166dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,CT:60:60:6:0:54,6:1632,155:0.00,10.08:0.00,10.08:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,40:13.1,138.0:0,0:0,0:41,16:109,134:30,6:-,NM_001164315.1(ANKRD36) c.3266-171_3266-170insT:-,NOT_FOUND:-,NOT_FOUND 2 97875275 . G T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=77;Gene=ANKRD36/NM_001164315.1/1;CC=c.3266-143G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G,T:77:77:0:0:1,67,9:9,2045,271:-0.28,0.00,19.48:-0.28,0.00,19.48:0.00,0.00,0.00:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,0.00:60,60,60:52.0,10.0,124.0:0,0,0:0,0,0:131,45,36:18,106,114:0,25,12:-,NM_001164315.1(ANKRD36) c.3266-143G>T:-,NOT_FOUND:-,NOT_FOUND 2 97875276 . A G 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=76;Gene=ANKRD36/NM_001164315.1/1;CC=c.3266-142A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:A,G,T:76:76:0:0:66,9,1:2021,314,9:0.00,23.76,-0.27:0.00,23.76,-0.27:0.00,0.00,0.00:0.00,0.97,0.00:0.00,0.97,0.00:0.00,0.00,0.00:60,60,60:8.9,124.0,107.0:0,0,0:0,0,0:45,37,46:106,113,105:26,12,0:-,NM_001164315.1(ANKRD36) c.3266-142A>G:-,NOT_FOUND:-,NOT_FOUND 2 97875309 rs369479998 T C 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=NA;NP=733;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.3266-109T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:120:113:0:0:21,99:655,3284:51.38,0.00:27.17,0.00:24.22,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:75.0,7.4:0,0:0,0:36,44:111,107:21,32:NM_001164315.1(ANKRD36) c.3266-109T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97875447 . G . . NT END=97875536;NT GT ./. 2 97875610 . G . . NT END=97877282;NT GT ./. 2 97877003 rs12995537 C T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=768;Gene=ANKRD36/NM_001164315.1/1;CC=c.3368-280C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,G,T:28:28:0:0:21,1,6:676,5,189:0.00,-0.26,15.55:0.00,-0.26,15.55:0.00,0.00,0.00:0.00,0.00,0.91:0.00,0.00,0.91:0.00,0.00,0.00:60,52,55:2.9,64.0,33.2:0,0,0:0,0,0:52,99,43:99,52,106:34,0,27:-,NM_001164315.1(ANKRD36) c.3368-280C>T:-,NOT_FOUND:-,NOT_FOUND 2 97877292 rs10171441 C A 1297 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=339;DB;DBA=NA;PAF=C/0.35,A/0.65,T/.;PC=0.506;Gene=ANKRD36/NM_001164315.1/1;CC=c.3377C>A;ProtCh=p.P1126Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:339:229:0:0:338,1:11370,10:1297.46,0.03:641.13,0.00:656.33,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,248.0:0,0:0,0:72,61:73,90:25,0:NM_001164315.1(ANKRD36) c.3377C>A (p.Pro1126Gln),NM_001164315.1(ANKRD36) c.3377C>A (p.Pro1126Gln):0.74,0.74:NOT_FOUND,NOT_FOUND 2 97877312 . G . . NT END=97877405;NT GT ./. 2 97877399 rs10186233 T C 849 nt VT=SNV;PN=C;NN=A;SST=Single;DP=230;DB;DBA=NA;PAF=T/0.3502,C/0.6498;PC=0.011;Gene=ANKRD36/NM_001164315.1/1;CC=c.3397-7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:230:89:0:0:230:7398:849.20:251.46:597.75:1.00:1.00:1.00:60:62.0:0:0:75:72:39:NM_001164315.1(ANKRD36) c.3397-7T>C,NM_001164315.1(ANKRD36) c.3397-7T>C:0.74,0.74:0.861087,0.861087 2 97877440 rs35711845 T C 157 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=192;DB;DBA=NA;PAF=T/0.7356,C/0.2644;NP=1968;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.3431T>C;ProtCh=p.M1144T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:192:75:0:0:60,132:1805,4242:157.29,0.00:55.11,0.00:102.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.8,49.6:0,0:0,0:84,83:65,62:28,30:NM_001164315.1(ANKRD36) c.3431T>C (p.Met1144Thr),-:NOT_FOUND,-:0.401445,- 2 97877478 rs10194525 G A 170 nt VT=SNV;PN=A;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=NA;NP=1225;PC=0.997;Gene=ANKRD36/NM_001164315.1/1;CC=c.3469G>A;ProtCh=p.V1157M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:148:56:0:0:57,91:1860,2927:170.32,0.00:43.02,0.00:127.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.1,44.3:0,0:0,0:106,100:43,47:23,23:NM_001164315.1(ANKRD36) c.3469G>A (p.Val1157Met),-:NOT_FOUND,-:NOT_FOUND,- 2 97877479 . G . . NT END=97879155;NT GT ./. 2 97879162 rs140729730 G C 47 lc VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.08347,C/0.9165;PC=0.445;Gene=ANKRD36/NM_001164315.1/1;CC=c.3476G>C;ProtCh=p.C1159S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,G:18:9:0:0:14,4:442,103:46.77,0.00:13.26,0.00:33.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:51.1,2.5:0,0:0,0:61,71:90,79:19,50:NM_001164315.1(ANKRD36) c.3476G>C (p.Cys1159Ser),-:0.78,-:NOT_FOUND,- 2 97879185 . G . . NT END=97879278;NT GT ./. 2 97879352 . G . . NT END=97881037;NT GT ./. 2 97881067 . G . . NT END=97881161;NT GT ./. 2 97881267 rs6756986 G A 98 lc VT=SNV;PN=C;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.7821,A/0.2179;Gene=ANKRD36/NM_001164315.1/1;CC=c.3706G>A;ProtCh=p.D1236N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:106:56:0:0:35,71:1101,2327:97.63,0.00:36.33,0.00:61.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,7.0:0,0:0,0:73,75:78,71:24,39:NM_001164315.1(ANKRD36) c.3706G>A (p.Asp1236Asn),-:0.2,-:NOT_FOUND,- 2 97881313 . G . . NT END=97882913;NT GT ./. 2 97882648 rs28404646 G A 22 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4519,A/0.5481;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.3752-266G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:14:0:0:7,7:229,212:22.03,0.00:22.03,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:52,53:41.9,7.1:0,0:0,0:6,13:144,137:1,12:NM_001164315.1(ANKRD36) c.3752-266G>A,-:0.42,-:NOT_FOUND,- 2 97882943 . G . . NT END=97883036;NT GT ./. 2 97883087 rs3927329 A G 105 lc VT=SNV;PN=C;NN=G;SST=Single;DP=210;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.3831A>G;ProtCh=p.T1277=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:210:106:0:0:165,44,1:5497,1309,12:0.00,105.27,-0.27:0.00,38.62,-0.13:0.00,66.65,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,52:7.0,69.5,118.0:0,0,0:0,0,0:91,71,5:54,75,146:29,34,0:-,NM_001164315.1(ANKRD36) c.3831A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 97883094 rs62156176 T G 101 lc VT=SNV;PN=T;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.3838T>G;ProtCh=p.W1280G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:200:100:0:0:2,41,157:29,1251,4927:-0.16,100.88,0.00:0.08,37.55,0.00:-0.24,63.34,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,60,60:121.0,68.9,6.7:0,0,0:0,0,0:40,77,94:103,73,53:28,29,32:NM_001164315.1(ANKRD36) c.3838T>G (p.Trp1280Gly),-:NOT_FOUND,-:NOT_FOUND,- 2 97883110 . G . . NT END=97884786;NT GT ./. 2 97884763 rs4328671 T C 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.4802,C/0.5198;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.3854-24T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:64:0:0:20,54:629,1711:53.69,0.00:48.71,0.00:4.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:55,56:36.0,6.9:0,0:0,0:59,72:91,78:25,25:NM_001164315.1(ANKRD36) c.3854-24T>C,-:0.41,-:NOT_FOUND,- 2 97884816 . G . . NT END=97884910;NT GT ./. 2 97884984 . G . . NT END=97890542;NT GT ./. 2 97890617 . G . . NT END=97899466;NT GT ./. 2 97899609 . G . . NT END=97907002;NT GT ./. 2 97907217 . G . . NT END=97909582;NT GT ./. 2 97909481 . G A 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;PC=0.159;Gene=ANKRD36/NM_001164315.1/1;CC=c.4386-102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:63:0:0:11,52:372,1540:29.79,0.00:29.79,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:27,40:87.3,7.8:0,0:0,0:49,46:100,103:12,30:NM_001164315.1(ANKRD36) c.4386-102G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97909485 . C T 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;PC=0.151;Gene=ANKRD36/NM_001164315.1/1;CC=c.4386-98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:63:0:0:51,12:1585,400:0.00,32.42:0.00,32.42:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,27:7.3,82.8:0,0:0,0:49,50:102,100:30,13:-,NM_001164315.1(ANKRD36) c.4386-98C>T:-,NOT_FOUND:-,NOT_FOUND 2 97909767 . G . . NT END=97910893;NT GT ./. 2 97909778 rs376916661 T C 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=159;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:159:47:0:0:21,138:649,4286:48.07,0.00:6.00,0.00:42.07,0.00:1.00,0.00:0.99,0.00:1.00,0.00:43,43:256.9,47.2:0,0:0,0:48,76:103,74:11,38:NM_001164315.1(ANKRD36) c.4569+12T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97909803 rs374065576 CTT C 35 nt VT=DEL;SST=Single;DP=153;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+38_4569+39delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:153:30:0:51:102,51:3318,552:0.00,34.67:0.00,3.08:0.00,31.60:0.00,1.00:0.00,1.00:0.00,1.00:51,43:11.0,245.0:1,0:0,0:98,62:50,89:33,19:-,NM_001164315.1(ANKRD36) c.4569+38_4569+39delTT:-,NOT_FOUND:-,NOT_FOUND 2 97909820 rs373257716 T C 152 nt VT=SNV;PN=A;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+54T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:141:21:0:0:1,51,89:8,1671,2799:-0.23,151.50,0.00:-0.03,10.58,0.00:-0.20,140.93,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,43,51:51.0,243.6,8.2:0,0,0:0,0,0:65,74,102:76,77,47:0,19,33:NM_001164315.1(ANKRD36) c.4569+54T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97909822 rs376344296 C A 139 nt VT=SNV;PN=A;NN=C;SST=Single;DP=138;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+56C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:138:18:0:0:49,86,3:1537,2736,35:138.63,0.00,-0.01:7.23,0.00,0.47:131.40,0.00,-0.47:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,51,49:243.8,8.6,16.3:0,0,0:0,0,0:79,104,150:72,46,1:18,32,0:NM_001164315.1(ANKRD36) c.4569+56C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97909823 rs369841725 C T 132 nt VT=SNV;PN=C;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+57C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:134:15:0:0:85,49:2731,1473:0.00,132.37:0.00,7.32:0.00,125.06:0.00,1.00:0.00,1.00:0.00,1.00:51,43:9.2,243.8:0,0:0,0:90,80:58,71:34,18:-,NM_001164315.1(ANKRD36) c.4569+57C>T:-,NOT_FOUND:-,NOT_FOUND 2 97909839 rs372437438 C T 154 nt VT=SNV;PN=A;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+73C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:11:0:0:77,51:2125,1666:0.00,153.72:0.00,11.55:0.00,142.17:0.00,1.00:0.00,0.99:0.00,1.00:51,43:9.5,243.6:0,0:0,0:98,93:53,58:27,19:-,NM_001164315.1(ANKRD36) c.4569+73C>T:-,NOT_FOUND:-,NOT_FOUND 2 97909853 rs568502214 G A 132 nt VT=SNV;PN=G;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:114:7:0:0:48,66:1426,2164:131.76,0.00:6.40,0.00:125.37,0.00:1.00,0.00:0.97,0.00:1.00,0.00:43,51:243.1,10.3:0,0:0,0:105,98:45,52:18,25:NM_001164315.1(ANKRD36) c.4569+87G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97909857 . G A 141 nt VT=SNV;PN=T;NN=A;SST=Single;DP=115;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:115:6:0:0:49,1,65:1515,12,2098:141.02,-0.11,0.00:8.21,-0.01,0.00:132.81,-0.11,0.00:1.00,0.00,0.00:0.95,0.00,0.00:1.00,0.00,0.00:43,51,51:243.0,46.0,10.4:0,0,0:0,0,0:107,57,102:43,94,48:20,0,25:NM_001164315.1(ANKRD36) c.4569+91G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97909862 . A G 137 nt VT=SNV;PN=A;NN=T;SST=Single;DP=110;PC=0.001;Gene=ANKRD36/NM_001164315.1/1;CC=c.4569+96A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:110:5:0:0:63,1,46:1755,10,1469:0.00,-0.16,136.65:0.00,-0.01,7.04:0.00,-0.15,129.61:0.00,0.00,1.00:0.00,0.00,0.93:0.00,0.00,1.00:51,27,43:12.9,31.0,244.6:0,0,0:0,0,0:107,123,114:43,28,36:24,0,18:-,NM_001164315.1(ANKRD36) c.4569+96A>G:-,NOT_FOUND:-,NOT_FOUND 2 97911756 rs62157161 A C 10 lc VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=14;Gene=ANKRD36/NM_001164315.1/1;CC=c.5432A>C;ProtCh=p.N1811T;VC=Missense;DM=ANKRD36/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:5:0:0:0:2,3:65,102:0.00,10.17:0.00,0.00:0.00,10.17:0.00,0.78:0.00,0.00:0.00,0.78:27,27:5.0,44.7:0,0:0,0:64,99:86,52:24,26:-,NM_001164315.1(ANKRD36) c.5432A>C (p.Asn1811Thr):-,NOT_FOUND:-,NOT_FOUND 2 97911809 . G . . NT END=97913212;NT GT ./. 2 97913366 . G . . NT END=97914880;NT GT ./. 2 97914952 . G . . NT END=97915288;NT GT ./. 2 97915383 . G . . NT END=97915880;NT GT ./. 2 97915835 rs62157179 C T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.176;Gene=ANKRD36/NM_001164315.1/1;CC=c.5803-46C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:22:22:0:0:17,5:539,152:0.00,12.47:0.00,12.47:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:27,25:4.7,102.2:0,0:0,0:44,41:106,110:28,39:-,NM_001164315.1(ANKRD36) c.5803-46C>T:-,NOT_FOUND:-,NOT_FOUND 2 97915895 rs201565865 T C 11 lc VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7011,C/0.2989;PC=0.979;Gene=ANKRD36/NM_001164315.1/1;CC=c.5817T>C;ProtCh=p.F1939=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:22:22:0:0:4,18:136,563:10.98,0.00:10.98,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:24,27:150.5,9.4:0,0:0,0:74,73:76,77:13,20:NM_001164315.1(ANKRD36) c.5817T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 97915896 rs199628660 G A 11 lc VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.7011,A/0.2989;PC=0.976;Gene=ANKRD36/NM_001164315.1/1;CC=c.5818G>A;ProtCh=p.E1940K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:22:22:0:0:4,18:133,604:10.68,0.00:10.68,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:24,27:150.5,9.4:0,0:0,0:75,74:75,76:13,20:NM_001164315.1(ANKRD36) c.5818G>A (p.Glu1940Lys),-:NOT_FOUND,-:NOT_FOUND,- 2 97915905 . A . . NT END=98123504;NT GT ./. 2 97915916 rs200719840 T C 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.969;Gene=ANKRD36/NM_001164315.1/1;CC=c.*6+6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,T:22:22:0:0:4,18:144,520:11.79,0.00:11.79,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:24,27:150.5,9.4:0,0:0,0:95,94:55,56:13,20:NM_001164315.1(ANKRD36) c.*6+6T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 97915973 rs371549625 G A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.*6+63G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:A,G:21:11:0:0:3,18:97,542:7.39,0.00:0.98,0.00:6.41,0.00:0.49,0.00:0.75,0.00:0.83,0.00:24,27:153.7,27.3:0,0:0,0:37,36:114,114:8,35:NM_001164315.1(ANKRD36) c.*6+63G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 97915984 rs373247143 TC T 8 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=ANKRD36/NM_001164315.1/1;CC=c.*6+77delC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:TC,T:19:7:0:5:14,5:432,100:0.00,7.62:0.00,0.44:0.00,7.19:0.00,0.86:0.00,0.85:0.00,0.97:27,24:15.1,119.2:0,0:0,0:36,43:113,108:24,3:-,NM_001164315.1(ANKRD36) c.*6+75delC:-,NOT_FOUND:-,NOT_FOUND 2 97916008 rs369141785 A C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=5;PC=0.002;Gene=ANKRD36/NM_001164315.1/1;CC=c.*6+98A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,C:23:2:0:0:18,5:532,152:0.00,12.37:0.00,-0.16:0.00,12.52:0.00,0.84:0.00,0.49:0.00,0.98:27,24:15.1,119.2:0,0:0,0:36,66:114,85:15,3:-,NM_001164315.1(ANKRD36) c.*6+98A>C:-,NOT_FOUND:-,NOT_FOUND 2 97916034 rs372379070 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=10;PC=0.007;Gene=ANKRD36/NM_001164315.1/1;CC=c.*6+124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:25:0:0:0:20,5:658,128:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.83:0.00,0.00:0.00,0.83:27,24:9.1,119.2:0,0:0,0:55,92:95,59:21,3:-,NM_001164315.1(ANKRD36) c.*6+124C>T:-,NOT_FOUND:-,NOT_FOUND 2 97972111 rs372108251 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=119;PC=0.190 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,G:5:4:0:0:4,1:136,10:14.48,0.00:11.34,0.00:3.14,0.00:0.96,0.00:1.00,0.00:0.99,0.00:50,53:136.5,29.0:0,0:0,0:15,75:98,76:4,0:chr2 g.97972110G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 97972140 rs538296177 A T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5479,A/0.4521;NP=58;PC=0.086 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:205:23.36:11.98:11.38:1.00:1.00:1.00:53:118.3:2:0:44:69:16:chr2 g.97972139A>T (intergenic),chr2 g.97972139A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 97972171 rs138957369 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5353,A/0.4647;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:6:5:0:0:1,5:35,170:0.00,18.21:0.00,11.39:0.00,6.82:0.00,0.99:0.00,1.00:0.00,1.00:53,50:29.0,137.4:0,0:0,0:135,70:16,77:0,8:-,chr2 g.97972170C>T (intergenic):-,0.51:-,NOT_FOUND 2 97972213 rs375023010 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=17;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:132:15.11:7.75:7.35:1.00:1.00:1.00:50:144.8:0:0:102:47:14:chr2 g.97972212T>C (intergenic),chr2 g.97972212T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 97972217 rs368067704 G A 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:136:15.51:7.75:7.75:1.00:1.00:1.00:50:146.2:0:0:106:43:14:chr2 g.97972216G>A (intergenic),chr2 g.97972216G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 98090956 rs181974546 T TTGTG 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.171;Gene=LOC100506076/NR_103732.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TTGTG:4:5:4:0:1,3:27,95:0.00,6.55:0.00,6.60:0.00,-0.05:0.00,0.78:0.00,0.78:0.00,0.87:60,60:32.0,21.7:0,1:0,0:54,29:97,99:0,5:-,NR_040097.1(LOC100506123) n.60CA[19]:-,NOT_FOUND:-,NOT_FOUND 2 98123529 . C . . NT END=98124026;NT GT ./. 2 98124121 . C . . NT END=98124457;NT GT ./. 2 98124529 . C . . NT END=98126043;NT GT ./. 2 98126197 . C . . NT END=98127600;NT GT ./. 2 98127653 rs538343994 T G 47 lc VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.7264,G/0.2736;NP=28;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.3668A>C;ProtCh=p.N1223T;VC=Missense;DM=ANKRD36B/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:38:0:0:0:17,21:501,688:46.82,0.00:0.00,0.00:46.82,0.00:1.00,0.00:0.00,0.00:1.00,0.00:27,27:40.0,2.5:0,0:0,0:110,88:40,63:25,44:NM_025190.3(ANKRD36B) c.3668A>C (p.Asn1223Thr),-:NOT_FOUND,-:NOT_FOUND,- 2 98128193 . C T 7 end;mq,lc VT=SNV;PN=A;NN=G;SST=Single;DP=4;PC=0.972;Gene=ANKRD36B/NM_025190.3/1;CC=c.3128G>A;ProtCh=p.R1043H;VC=Missense;DM=ANKRD36B/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T:4:4:0:0:1,3:10,68:0.00,7.27:0.00,7.27:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:7,15:193.0,99.7:0,0:0,0:58,3:91,148:0,2:-,NM_025190.3(ANKRD36B) c.3128G>A (p.Arg1043His):-,NOT_FOUND:-,NOT_FOUND 2 98128516 . C . . NT END=98129642;NT GT ./. 2 98129589 . A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=90;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.2805+54T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,C,G:90:83:0:0:79,1,10:2433,12,261:0.00,-0.21,17.42:0.00,-0.16,17.98:0.00,-0.05,-0.56:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.74:50,51,43:13.7,54.0,212.9:0,0,0:0,0,0:52,118,20:98,31,125:33,0,3:-,NM_025190.3(ANKRD36B) c.2805+54T>C:-,NOT_FOUND:-,NOT_FOUND 2 98129603 rs373000147 TAA T 38 sb,nt VT=DEL;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.2805+38_2805+39delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAA,T:104:97:0:22:82,22:2634,512:0.00,38.43:0.00,39.67:0.00,-1.24:0.00,1.00:0.00,1.00:0.00,0.96:51,25:16.6,238.5:0,0:0,0:66,18:84,118:32,5:-,NM_025190.3(ANKRD36B) c.2805+38_2805+39delTT:-,NOT_FOUND:-,0.308043 2 98129631 . A G 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=124;NP=60;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.2805+12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:124:109:0:0:114,10:3554,329:0.00,22.59:0.00,23.38:0.00,-0.79:0.00,0.97:0.00,1.00:0.00,0.80:43,25:39.8,243.7:0,0:0,0:60,44:87,95:34,3:-,NM_025190.3(ANKRD36B) c.2805+12T>C:-,NOT_FOUND:-,NOT_FOUND 2 98129682 rs140574837 T C 38 lc VT=SNV;PN=C;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=T/0.9952,C/0.004792;NP=10;Gene=ANKRD36B/NM_025190.3/1;CC=c.2766A>G;ProtCh=p.A922=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:C,T:179:139:0:0:19,160:551,5358:37.98,0.00:35.52,0.00:2.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:25,43:240.0,12.8:0,0:0,0:92,46:41,104:7,26:NM_025190.3(ANKRD36B) c.2766A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 98129683 rs146417104 G A 45 lc VT=SNV;PN=T;NN=C;SST=Single;DP=181;DB;DBA=NA;PAF=NA;Gene=ANKRD36B/NM_025190.3/1;CC=c.2765C>T;ProtCh=p.A922V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:181:141:0:0:21,2,157,1:627,22,5304,8:44.86,-0.46,0.00,-0.37:39.94,-0.27,0.00,-0.22:4.92,-0.19,0.00,-0.15:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:25,27,43,25:241.3,221.5,7.1,105.0:0,0,0,0:0,0,0,0:95,122,40,94:40,27,109,57:5,6,25,0:NM_025190.3(ANKRD36B) c.2765C>T (p.Ala922Val),-:NOT_FOUND,-:NOT_FOUND,- 2 98129690 . T C 44 lc VT=SNV;PN=T;NN=G;SST=Single;DP=186;Gene=ANKRD36B/NM_025190.3/1;CC=c.2758A>G;ProtCh=p.K920E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:186:140:0:0:20,1,165:614,7,5329:43.52,-0.34,0.00:40.93,-0.22,0.00:2.59,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:25,42,44:236.8,195.0,8.6:0,0,0:0,0,0:102,0,44:33,151,104:5,0,24:NM_025190.3(ANKRD36B) c.2758A>G (p.Lys920Glu),-:NOT_FOUND,-:NOT_FOUND,- 2 98129691 rs144708060 G A 47 lc VT=SNV;PN=T;NN=A;SST=Single;DP=192;DB;DBA=NA;PAF=NA;Gene=ANKRD36B/NM_025190.3/1;CC=c.2757C>T;ProtCh=p.L919=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:192:146:0:0:25,166,1:675,5382,10:47.46,0.00,-0.31:41.40,0.00,-0.22:6.06,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,44,25:239.1,9.1,192.0:0,0,0:0,0,0:103,45,122:35,101,4:6,24,0:NM_025190.3(ANKRD36B) c.2757C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 98129707 rs199925382 G T 313 lc VT=SNV;PN=T;NN=G;SST=Single;DP=290;DB;DBA=NA;PAF=NA;PC=0.999;Gene=ANKRD36B/NM_025190.3/1;CC=c.2741C>A;ProtCh=p.P914Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:290:230:0:0:179,111:5772,3436:0.00,312.72:0.00,238.93:0.00,73.79:0.00,1.00:0.00,1.00:0.00,1.00:44,44:9.7,246.0:0,0:0,0:57,16:92,132:30,9:-,NM_025190.3(ANKRD36B) c.2741C>A (p.Pro914Gln):-,NOT_FOUND:-,NOT_FOUND 2 98129716 rs201019539 A G 353 lc VT=SNV;PN=C;NN=C;SST=Single;DP=308;DB;DBA=NA;PAF=NA;PC=0.007;Gene=ANKRD36B/NM_025190.3/1;CC=c.2732T>C;ProtCh=p.V911A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:308:237:0:0:182,126:5745,3832:0.00,352.65:0.00,250.42:0.00,102.23:0.00,1.00:0.00,1.00:0.00,1.00:44,44:8.6,246.4:0,0:0,0:61,21:87,128:25,9:-,NM_025190.3(ANKRD36B) c.2732T>C (p.Val911Ala):-,NOT_FOUND:-,NOT_FOUND 2 98129717 rs201860439 C T 349 lc VT=SNV;PN=A;NN=A;SST=Single;DP=307;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.2731G>A;ProtCh=p.V911M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:307:237:0:0:181,2,124:6087,20,3792:0.00,-0.41,348.74:0.00,-0.13,259.14:0.00,-0.27,89.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:44,25,45:9.0,198.0,241.7:0,0,0:0,0,0:55,12,22:91,138,126:23,3,11:-,NM_025190.3(ANKRD36B) c.2731G>A (p.Val911Met):-,NOT_FOUND:-,NOT_FOUND 2 98129731 rs144131603 C T 441 lc VT=SNV;PN=C;NN=T;SST=Single;DP=333;DB;DBA=NA;PAF=NA;Gene=ANKRD36B/NM_025190.3/1;CC=c.2717G>A;ProtCh=p.R906K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:333:240:0:0:188,145:6245,4711:0.00,441.12:0.00,303.00:0.00,138.11:0.00,1.00:0.00,1.00:0.00,1.00:44,45:7.2,221.8:0,0:0,0:61,29:87,117:26,12:-,NM_025190.3(ANKRD36B) c.2717G>A (p.Arg906Lys):-,NOT_FOUND:-,NOT_FOUND 2 98129733 rs5011471 A C 454 lc VT=SNV;PN=T;NN=T;SST=Single;DP=335;DB;DBA=NA;PAF=NA;PC=0.017;Gene=ANKRD36B/NM_025190.3/1;CC=c.2715T>G;ProtCh=p.Y905*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:335:239:0:0:190,145:5813,4837:0.00,453.55:0.00,309.23:0.00,144.32:0.00,1.00:0.00,1.00:0.00,1.00:44,45:8.1,224.3:0,0:0,0:65,32:80,113:26,12:-,NM_025190.3(ANKRD36B) c.2715T>G (p.Tyr905*):-,NOT_FOUND:-,NOT_FOUND 2 98129734 rs369693044 T C 519 lc VT=SNV;PN=A;NN=A;SST=Single;DP=360;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.724;Gene=ANKRD36B/NM_025190.3/1;CC=c.2714A>G;ProtCh=p.Y905C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:360:263:0:0:168,192:5470,6088:519.10,0.00:337.33,0.00:181.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,44:223.3,8.8:0,0:0,0:32,67:117,78:11,25:NM_025190.3(ANKRD36B) c.2714A>G (p.Tyr905Cys),-:NOT_FOUND,-:NOT_FOUND,- 2 98129744 rs5011473 C T 720 lc VT=SNV;PN=T;NN=T;SST=Single;DP=424;DB;DBA=NA;PAF=NA;NP=73;PC=1.000;Gene=ANKRD36B/NM_025190.3/1;CC=c.2704G>A;ProtCh=p.E902K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:424:314:0:0:1,192,231:7,6539,7362:-0.16,0.00,719.59:-0.07,0.00,462.28:-0.09,0.00,257.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:25,44,46:29.0,7.5,159.3:0,0,0:0,0,0:54,74,28:72,74,115:0,26,15:-,NM_025190.3(ANKRD36B) c.2704G>A (p.Glu902Lys):-,NOT_FOUND:-,NOT_FOUND 2 98129817 rs199911436 T C 883 lc VT=SNV;PN=G;NN=A;SST=Single;DP=507;DB;DBA=NA;PAF=NA;NP=2531;PC=0.936;Gene=ANKRD36B/NM_025190.3/1;CC=c.2631A>G;ProtCh=p.I877M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:507:286:0:0:273,234:9044,7406:882.53,0.00:413.89,0.00:468.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,45:128.0,37.7:0,0:0,0:86,94:56,51:23,27:NM_025190.3(ANKRD36B) c.2631A>G (p.Ile877Met),-:NOT_FOUND,-:NOT_FOUND,- 2 98129827 . C . . NT END=98132193;NT GT ./. 2 98129919 . G A 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=207;PC=0.617;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-93C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:207:13:0:0:25,182:751,5919:54.02,0.00:1.09,0.00:52.93,0.00:1.00,0.00:0.73,0.00:1.00,0.00:41,41:100.8,70.5:0,0:0,0:119,95:31,55:23,36:NM_025190.3(ANKRD36B) c.2622-93C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 98129924 rs200669541 G A 463 nt VT=SNV;PN=C;NN=T;SST=Single;DP=196;DB;DBA=NA;PAF=NA;NP=472;PC=0.577;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:196:5:0:0:143,53:4446,1735:462.77,0.00:2.49,0.00:460.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,40:102.7,9.3:0,0:0,0:91,111:60,40:34,23:NM_025190.3(ANKRD36B) c.2622-98C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 98129928 rs202038943 C T 459 nt VT=SNV;PN=C;NN=C;SST=Single;DP=188;DB;DBA=NA;PAF=NA;NP=440;PC=0.586;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:188:3:0:0:51,137:1579,4418:0.00,459.43:0.00,2.37:0.00,457.06:0.00,1.00:0.00,0.98:0.00,1.00:40,37:9.7,104.7:0,0:0,0:112,91:38,59:26,34:-,NM_025190.3(ANKRD36B) c.2622-102G>A:-,NOT_FOUND:-,NOT_FOUND 2 98130012 rs200162219 C A 220 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=37;PC=0.020;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-186G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:81:0:0:0:66,15:2050,469:219.61,0.00:0.00,0.00:219.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:25,27:133.5,24.3:0,0:0,0:115,98:36,53:25,28:NM_025190.3(ANKRD36B) c.2622-186G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 98130016 rs143559229 C T 203 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=38;PC=0.013;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-190G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:0:0:0:15,60:385,1903:0.00,202.83:0.00,0.00:0.00,202.83:0.00,1.00:0.00,0.00:0.00,1.00:27,25:24.3,136.0:0,0:0,0:102,116:49,33:28,23:-,NM_025190.3(ANKRD36B) c.2622-190G>A:-,NOT_FOUND:-,NOT_FOUND 2 98130028 . G T 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;NP=1;PC=0.007;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-202C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:58:0:0:0:37,21:1147,661:0.00,59.65:0.00,0.00:0.00,59.65:0.00,1.00:0.00,0.00:0.00,1.00:27,25:95.2,149.9:0,0:0,0:114,120:37,31:19,23:-,NM_025190.3(ANKRD36B) c.2622-202C>A:-,NOT_FOUND:-,NOT_FOUND 2 98130110 rs201335045 T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.044;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-284A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:17:0:0:0:3,14:88,351:6.82,0.00:0.00,0.00:6.82,0.00:0.53,0.00:0.00,0.00:0.53,0.00:27,27:137.7,107.4:0,0:0,0:121,97:28,50:8,28:NM_025190.3(ANKRD36B) c.2622-284A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 98130117 rs139965717 A T 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1;PC=0.017;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-291T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,T:17:0:0:0:5,12:114,366:0.00,37.90:0.00,0.00:0.00,37.90:0.00,1.00:0.00,0.00:0.00,1.00:27,27:30.6,158.1:0,0:0,0:80,112:70,38:38,20:-,NM_025190.3(ANKRD36B) c.2622-291T>A:-,NOT_FOUND:-,NOT_FOUND 2 98130122 . C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;PC=0.006;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-296G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:8,8:209,237:0.00,22.71:0.00,0.00:0.00,22.71:0.00,1.00:0.00,0.00:0.00,1.00:27,27:83.4,172.9:0,0:0,0:88,109:53,42:43,23:-,NM_025190.3(ANKRD36B) c.2622-296G>A:-,NOT_FOUND:-,NOT_FOUND 2 98130168 rs79322697 T A 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-342A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,T:10:0:0:0:6,4:170,104:16.95,0.00:0.00,0.00:16.95,0.00:0.99,0.00:0.00,0.00:0.99,0.00:27,27:176.2,38.2:0,0:0,0:80,112:70,38:31,22:NM_025190.3(ANKRD36B) c.2622-342A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 98130175 rs201444719 G A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-349C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:9:0:0:0:5,4:161,96:15.81,0.00:0.00,0.00:15.81,0.00:0.96,0.00:0.00,0.00:0.96,0.00:27,27:183.6,38.2:0,0:0,0:82,119:68,31:23,22:NM_025190.3(ANKRD36B) c.2622-349C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 98130177 rs78047551 G C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-351C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,G:9:0:0:0:5,4:179,86:17.62,0.00:0.00,0.00:17.62,0.00:0.96,0.00:0.00,0.00:0.96,0.00:27,27:183.6,38.2:0,0:0,0:84,121:66,29:23,22:NM_025190.3(ANKRD36B) c.2622-351C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 98130218 rs150319284 AT A 14 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.035;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-393delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:AT,A:7:0:0:5:2,5:64,133:0.00,13.86:0.00,0.00:0.00,13.86:0.00,0.98:0.00,0.00:0.00,0.98:27,27:5.0,198.8:0,0:0,0:129,102:21,49:13,23:-,NM_025190.3(ANKRD36B) c.2622-393delA:-,NOT_FOUND:-,NOT_FOUND 2 98130249 rs145357733 C T 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.206;Gene=ANKRD36B/NM_025190.3/1;CC=c.2622-423G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:4:0:0:0:1,3:31,100:0.00,10.45:0.00,0.00:0.00,10.45:0.00,0.85:0.00,0.00:0.00,0.85:27,27:0.0,222.0:0,0:0,0:147,109:4,42:0,23:-,NM_025190.3(ANKRD36B) c.2622-423G>A:-,NOT_FOUND:-,NOT_FOUND 2 98132409 . C . . NT END=98139788;NT GT ./. 2 98139931 . C . . NT END=98148772;NT GT ./. 2 98148848 . C . . NT END=98152761;NT GT ./. 2 98148951 rs146063580 T C 123 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7328,C/0.2672;PC=0.034;Gene=ANKRD36B/NM_025190.3/1;CC=c.2192-104A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:6:0:0:36:1056:122.64:12.87:109.77:1.00:1.00:1.00:60:64.0:0:0:90:60:23:NM_025190.3(ANKRD36B) c.2192-104A>G,NM_025190.3(ANKRD36B) c.2192-104A>G:0.22,0.22:NOT_FOUND,NOT_FOUND 2 98148968 rs138992129 G C 141 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8948,C/0.1052;PC=0.029;Gene=ANKRD36B/NM_025190.3/1;CC=c.2192-121C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:0:0:0:37:1235:141.12:0.00:141.12:1.00:0.00:1.00:60:66.9:0:0:91:60:30:NM_025190.3(ANKRD36B) c.2192-121C>G,NM_025190.3(ANKRD36B) c.2192-121C>G:0.11,0.11:NOT_FOUND,NOT_FOUND 2 98152836 . C . . NT END=98152929;NT GT ./. 2 98152960 . C . . NT END=98154629;NT GT ./. 2 98154578 rs3925991 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.9501,T/0.04992;Gene=ANKRD36B/NM_025190.3/1;CC=c.2089+53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:54:52:0:0:47,7:1516,232:0.00,17.50:0.00,16.41:0.00,1.09:0.00,0.92:0.00,1.00:0.00,0.78:60,25:1.7,77.6:0,0:0,0:44,13:106,135:35,7:-,NM_025190.3(ANKRD36B) c.2089+53G>A:-,0.07:-,NOT_FOUND 2 98154623 rs187904341 C T 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.9499,T/0.05012;PC=0.013;Gene=ANKRD36B/NM_025190.3/1;CC=c.2089+8G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:68:0:0:71,12:2338,420:0.00,32.83:0.00,25.13:0.00,7.70:0.00,1.00:0.00,1.00:0.00,1.00:57,40:3.8,60.8:0,0:0,0:42,49:106,99:22,18:-,NM_025190.3(ANKRD36B) c.2089+8G>A:-,0.06:-,NOT_FOUND 2 98154704 . C . . NT END=98154796;NT GT ./. 2 98154827 . C . . NT END=98156495;NT GT ./. 2 98156570 . C . . NT END=98156662;NT GT ./. 2 98156693 . C . . NT END=98158372;NT GT ./. 2 98158447 . C . . NT END=98158540;NT GT ./. 2 98158571 . C . . NT END=98160251;NT GT ./. 2 98160326 . C . . NT END=98160418;NT GT ./. 2 98160449 . C . . NT END=98162127;NT GT ./. 2 98162104 rs3863007 A C 160 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.9002,C/0.09984;Gene=ANKRD36B/NM_025190.3/1;CC=c.1681+25T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A,C:47:39:0:0:2,45:68,1424:0.00,160.24:0.00,114.91:0.00,45.33:0.00,1.00:0.00,1.00:0.00,1.00:27,51:30.5,42.9:0,0:0,0:79,38:72,112:10,28:NM_025190.3(ANKRD36B) c.1681+25T>G,NM_025190.3(ANKRD36B) c.1681+25T>G:0.08,0.08:NOT_FOUND,NOT_FOUND 2 98162202 . C . . NT END=98162294;NT GT ./. 2 98162325 . C . . NT END=98163997;NT GT ./. 2 98162389 rs6707497 T C 14 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=ANKRD36B/NM_025190.3/1;CC=c.1580-65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:40:16:0:0:5,35:177,1094:13.55,0.00:-0.58,0.00:14.13,0.00:0.76,0.00:0.80,0.00:0.97,0.00:10,60:138.2,5.4:0,0:0,0:19,112:131,39:1,17:NM_025190.3(ANKRD36B) c.1580-65A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 98162426 rs6761433 A T 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.1580-102T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:35:9:0:0:24,11:763,366:0.00,32.39:0.00,2.46:0.00,29.93:0.00,1.00:0.00,0.95:0.00,1.00:60,60:5.6,118.9:0,0:0,0:120,28:30,123:25,25:-,NM_025190.3(ANKRD36B) c.1580-102T>A:-,0.24:-,NOT_FOUND 2 98162432 rs6707516 T G 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.018;Gene=ANKRD36B/NM_025190.3/1;CC=c.1580-108A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:32:7:0:0:11,21:342,644:30.49,0.00:2.77,0.00:27.73,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:118.9,7.0:0,0:0,0:34,87:117,61:25,43:NM_025190.3(ANKRD36B) c.1580-108A>C,-:0.22,-:NOT_FOUND,- 2 98162433 rs6761436 A G 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.023;Gene=ANKRD36B/NM_025190.3/1;CC=c.1580-109T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:6:0:0:21,13:698,398:0.00,36.15:0.00,2.84:0.00,33.31:0.00,1.00:0.00,0.93:0.00,1.00:60,60:7.0,104.1:0,0:0,0:88,32:60,119:43,29:-,NM_025190.3(ANKRD36B) c.1580-109T>C:-,0.22:-,NOT_FOUND 2 98162672 rs6744616 G A 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.218;Gene=ANKRD36B/NM_025190.3/1;CC=c.1580-348C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,G:6:0:0:0:5,1:174,33:18.61,0.00:0.00,0.00:18.61,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,56:48.0,0.0:0,0:0,0:95,120:56,31:18,0:NM_025190.3(ANKRD36B) c.1580-348C>T,-:0.47,-:NOT_FOUND,- 2 98163810 rs13033336 C T 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.5889,T/0.4111;PC=0.003;Gene=ANKRD36B/NM_025190.3/1;CC=c.1579+189G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:13,12:374,349:0.00,33.08:0.00,33.08:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.4,44.8:0,0:0,0:76,44:74,106:58,24:-,NM_025190.3(ANKRD36B) c.1579+189G>A:-,0.5:-,NOT_FOUND 2 98163927 rs12993579 A T 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.6154,T/0.3846;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.1579+72T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:66:64:0:0:46,20:1493,695:0.00,61.47:0.00,56.78:0.00,4.69:0.00,1.00:0.00,1.00:0.00,0.92:60,60:7.2,73.5:0,0:0,0:44,77:107,73:24,41:-,NM_025190.3(ANKRD36B) c.1579+72T>A:-,0.47:-,NOT_FOUND 2 98164020 rs13001324 C T 181 lc VT=SNV;PN=T;NN=T;SST=Single;DP=168;DB;DBA=NA;PAF=C/0.619,T/0.381;PC=0.050;Gene=ANKRD36B/NM_025190.3/1;CC=c.1558G>A;ProtCh=p.D520N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:168:129:0:0:106,62:3510,1994:0.00,180.91:0.00,126.18:0.00,54.73:0.00,1.00:0.00,1.00:0.00,1.00:60,56:10.4,99.0:0,0:0,0:62,57:86,93:31,24:-,NM_025190.3(ANKRD36B) c.1558G>A (p.Asp520Asn):-,NOT_FOUND:-,NOT_FOUND 2 98164021 rs13017573 T C 187 lc VT=SNV;PN=C;NN=T;SST=Single;DP=169;DB;DBA=NA;PAF=T/0.6176,C/0.3824;PC=0.055;Gene=ANKRD36B/NM_025190.3/1;CC=c.1557A>G;ProtCh=p.K519=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:169:130:0:0:61,108:2057,3599:186.81,0.00:129.88,0.00:56.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:99.5,13.0:0,0:0,0:57,67:93,81:23,34:NM_025190.3(ANKRD36B) c.1557A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 98164072 . C . . NT END=98164164;NT GT ./. 2 98164084 rs13017744 T A 234 nt VT=SNV;PN=T;NN=G;SST=Single;DP=202;DB;DBA=NA;PAF=T/0.6174,A/0.3826;PC=0.004;Gene=ANKRD36B/NM_025190.3/1;CC=c.1507-13A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:202:141:0:0:78,124:2555,4036:234.22,0.00:154.79,0.00:79.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:84.2,7.8:0,0:0,0:71,72:78,73:46,35:NM_025190.3(ANKRD36B) c.1507-13A>T,-:0.48,-:NOT_FOUND,- 2 98164184 rs13001728 C G 286 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=204;DB;DBA=NA;PAF=C/0.7129,G/0.2871;PC=0.017;Gene=ANKRD36B/NM_025190.3/1;CC=c.1488G>C;ProtCh=p.E496D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:204:125:0:0:1,107,95,1:10,3535,3012,11:-0.18,0.00,285.78,-0.17:-0.04,0.00,115.63,-0.03:-0.14,0.00,170.15,-0.14:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:42,60,60,42:47.0,3.7,43.7,44.0:0,0,0,0:0,0,0,0:112,91,75,115:39,53,71,36:0,30,24,0:-,NM_025190.3(ANKRD36B) c.1488G>C (p.Glu496Asp):-,0.38:-,0.490409 2 98164195 . C . . NT END=98165880;NT GT ./. 2 98164389 rs11691967 T A 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.6172,A/0.3828;PC=0.007;Gene=ANKRD36B/NM_025190.3/1;CC=c.1478-195A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:28:0:0:0:16,12:488,334:48.16,0.00:0.00,0.00:48.16,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:67.8,9.7:0,0:0,0:106,87:42,62:15,38:NM_025190.3(ANKRD36B) c.1478-195A>T,-:0.48,-:NOT_FOUND,- 2 98164409 rs11683920 G T 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1478-215C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:0:0:0:9,14:284,472:0.00,47.19:0.00,0.00:0.00,47.19:0.00,1.00:0.00,0.00:0.00,1.00:60,60:31.8,73.2:0,0:0,0:89,123:61,26:31,18:-,NM_025190.3(ANKRD36B) c.1478-215C>A:-,0.5:-,NOT_FOUND 2 98164509 rs114569772 A C 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1478-315T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,C:5:0:0:0:1,4:32,132:0.00,14.02:0.00,0.00:0.00,14.02:0.00,0.96:0.00,0.00:0.00,0.96:60,60:85.0,155.5:0,0:0,0:121,99:30,50:0,26:-,NM_025190.3(ANKRD36B) c.1478-315T>G:-,0.02:-,NOT_FOUND 2 98164516 rs555150125 T C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9527,C/0.04732;Gene=ANKRD36B/NM_025190.3/1;CC=c.1478-322A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:C,T:5:0:0:0:4,1:141,14:14.94,0.00:0.00,0.00:14.94,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:155.5,85.0:0,0:0,0:106,128:43,23:26,0:NM_025190.3(ANKRD36B) c.1478-322A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 98164519 rs534549646 A T 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9527,T/0.04732;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1478-325T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,T:5:0:0:0:1,4:29,129:0.00,13.72:0.00,0.00:0.00,13.72:0.00,0.96:0.00,0.00:0.00,0.96:60,60:85.0,155.5:0,0:0,0:131,109:20,40:0,26:-,NM_025190.3(ANKRD36B) c.1478-325T>A:-,NOT_FOUND:-,NOT_FOUND 2 98164532 rs11688407 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5471,T/0.4529;Gene=ANKRD36B/NM_025190.3/1;CC=c.1478-338G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:152.2:0:0:122:27:18:NM_025190.3(ANKRD36B) c.1478-338G>A,NM_025190.3(ANKRD36B) c.1478-338G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 2 98164535 rs56722094 G C 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9385,C/0.0615;NP=9;PC=0.010;Gene=ANKRD36B/NM_025190.3/1;CC=c.1478-341C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,G:4:0:0:0:3,1:106,33:11.05,0.00:0.00,0.00:11.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:174.7,85.0:0,0:0,0:110,147:40,4:30,0:NM_025190.3(ANKRD36B) c.1478-341C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 98165710 rs71849050 GCAGCAT G 32 nt VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=GCAGCAT/0.6875,G/0.3125;DB;DBA=NA;PAF=GCAGCAT/0.6875,G/0.3125;DB;DBA=NA;PAF=GCAGCAT/0.6875,G/0.3125;NP=434;PC=0.019;Gene=ANKRD36B/NM_025190.3/1;CC=c.1477+166_1477+171delATGCTG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCAGCAT,G:76:76:0:13:63,13:2073,405:0.00,31.64:0.00,31.68:0.00,-0.04:0.00,1.00:0.00,1.00:0.00,0.45:60,60:11.3,4.1:0,0:0,0:36,41:113,109:24,21:-,NM_025190.3(ANKRD36B) c.1477+166_1477+171delATGCTG:-,NOT_FOUND:-,NOT_FOUND 2 98165911 rs1839230 T C 1152 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=427;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8043,C/0.1957;Gene=ANKRD36B/NM_025190.3/1;CC=c.1448A>G;ProtCh=p.E483G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:427:350:0:0:2,333,92:16,10899,2891:-0.14,1152.17,0.00:-0.06,797.88,0.00:-0.08,354.29,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:71.5,40.3,10.5:0,0,0:0,0,0:70,63,66:80,80,80:45,30,30:NM_025190.3(ANKRD36B) c.1448A>G (p.Glu483Gly),-:0.17,-:NOT_FOUND,- 2 98165955 . C . . NT END=98166047;NT GT ./. 2 98166078 . C . . NT END=98167750;NT GT ./. 2 98166183 rs6750197 C T 172 nt VT=SNV;PN=G;NN=G;SST=Single;DP=309;DB;DBA=NA;PAF=C/0.627,T/0.373;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.1376-106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:309:42:0:0:1,243,65:11,7157,2094:-0.27,0.00,171.62:-0.03,0.00,13.20:-0.24,0.00,158.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.0,6.9,61.4:0,0,0:0,0,0:32,101,108:119,50,43:0,30,28:-,NM_025190.3(ANKRD36B) c.1376-106G>A:-,0.44:-,NOT_FOUND 2 98166215 rs6750205 C G 132 nt VT=SNV;PN=G;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=C/0.5847,G/0.4153;Gene=ANKRD36B/NM_025190.3/1;CC=c.1376-138G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:235:4:0:0:1,182,52:11,5044,1607:-0.26,0.00,131.85:-0.01,0.00,-0.33:-0.25,0.00,132.18:0.00,0.00,1.00:0.00,0.00,0.64:0.00,0.00,1.00:60,60,60:31.0,7.7,68.5:0,0,0:0,0,0:70,103,102:81,48,45:0,27,38:-,NM_025190.3(ANKRD36B) c.1376-138G>C:-,0.47:-,NOT_FOUND 2 98167825 . C . . NT END=98167913;NT GT ./. 2 98167944 . C . . NT END=98169629;NT GT ./. 2 98168055 rs1972985 T C 140 nt VT=SNV;PN=G;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.6172,C/0.3828;PC=0.009;Gene=ANKRD36B/NM_025190.3/1;CC=c.1274-112A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:10:0:0:45,48:1467,1503:140.16,0.00:15.70,0.00:124.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,10.8:0,0:0,0:106,97:45,54:33,33:NM_025190.3(ANKRD36B) c.1274-112A>G,-:0.46,-:NOT_FOUND,- 2 98169354 rs9677078 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6182,T/0.3818;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1273+277G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,T:13:13:0:0:8,5:265,159:0.00,14.52:0.00,14.63:0.00,-0.11:0.00,0.91:0.00,0.91:0.00,0.59:60,55:8.2,47.8:0,0:0,0:54,91:93,60:13,18:-,NM_025190.3(ANKRD36B) c.1273+277G>A:-,0.47:-,NOT_FOUND 2 98169479 rs9677528 T G 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.6182,G/0.3818;Gene=ANKRD36B/NM_025190.3/1;CC=c.1273+152A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:41:41:0:0:21,20:709,658:68.57,0.00:68.57,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:59,60:110.5,10.1:0,0:0,0:33,40:118,110:20,32:NM_025190.3(ANKRD36B) c.1273+152A>C,-:0.46,-:NOT_FOUND,- 2 98169519 rs9679287 G C 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.6188,C/0.3812;PC=0.003;Gene=ANKRD36B/NM_025190.3/1;CC=c.1273+112C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:56:0:0:28,29:953,984:91.50,0.00:92.09,0.00:-0.59,0.00:1.00,0.00:1.00,0.00:0.88,0.00:59,60:111.6,6.9:0,0:0,0:59,48:91,103:23,33:NM_025190.3(ANKRD36B) c.1273+112C>G,-:0.48,-:NOT_FOUND,- 2 98169544 rs9677087 C G 98 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.6188,G/0.3812;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1273+87G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:71:69:0:0:1,35,35:15,1059,1026:0.14,0.00,98.17:0.17,0.00,99.48:-0.03,0.00,-1.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:56,60,59:82.0,8.3,102.0:0,0,0:0,0,0:1,45,67:136,106,84:0,31,25:-,NM_025190.3(ANKRD36B) c.1273+87G>C:-,0.48:-,NOT_FOUND 2 98169583 rs9679293 G T 173 nt VT=SNV;PN=C;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=G/0.6188,A/.,T/0.3812;Gene=ANKRD36B/NM_025190.3/1;CC=c.1273+48C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:111:94:0:0:58,53:1714,1811:0.00,173.09:0.00,142.71:0.00,30.38:0.00,1.00:0.00,1.00:0.00,1.00:60,56:7.7,73.4:0,0:0,0:39,40:107,111:25,28:-,NM_025190.3(ANKRD36B) c.1273+48C>A:-,0.45:-,0.579888 2 98169704 . C . . NT END=98169804;NT GT ./. 2 98169742 rs12998184 A C 332 nt VT=SNV;PN=T;NN=A;SST=Single;DP=189;DB;DBA=NA;PAF=A/0.7031,C/0.2969;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1201-39T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:189:123:0:0:86,103:2723,3395:0.00,332.04:0.00,165.75:0.00,166.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,40.5:0,0:0,0:72,77:78,68:49,43:-,NM_025190.3(ANKRD36B) c.1201-39T>G:-,0.39:-,0.50532 2 98169835 . C . . NT END=98171521;NT GT ./. 2 98169901 rs12712055 G T 218 nt VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=G/0.6188,T/0.3812;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1172-67C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:136:63:0:0:1,68,67:5,2078,2263:-0.19,0.00,217.64:-0.06,0.00,77.68:-0.13,0.00,139.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:56,60,58:5.0,4.3,40.5:0,0,0:0,0,0:122,101,103:28,44,48:0,24,25:-,NM_025190.3(ANKRD36B) c.1172-67C>A:-,0.46:-,NOT_FOUND 2 98170122 rs12712056 T C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5757,C/0.4243;Gene=ANKRD36B/NM_025190.3/1;CC=c.1172-288A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:301,256:29.00,0.00:0.00,0.00:29.00,0.00:1.00,0.00:0.00,0.00:1.00,0.00:58,60:65.0,12.8:0,0:0,0:116,83:35,67:34,26:NM_025190.3(ANKRD36B) c.1172-288A>G,-:0.46,-:NOT_FOUND,- 2 98170123 rs13024129 G A 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.7033,A/0.2967;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.1172-289C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:8,9:236,283:22.27,0.00:0.00,0.00:22.27,0.00:0.99,0.00:0.00,0.00:0.99,0.00:58,60:69.5,12.8:0,0:0,0:99,84:51,66:37,26:NM_025190.3(ANKRD36B) c.1172-289C>T,-:0.35,-:NOT_FOUND,- 2 98171596 . C . . NT END=98171687;NT GT ./. 2 98171718 . C . . NT END=98173398;NT GT ./. 2 98171807 rs12712057 T C 195 nt VT=SNV;PN=C;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.619,C/0.381;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.1070-90A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:122:41:0:0:2,60,60:17,2024,1989:-0.21,194.90,0.00:-0.08,46.87,0.00:-0.13,148.04,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:52.0,37.0,4.3:0,0,0:0,0,0:92,103,114:58,46,34:32,23,18:NM_025190.3(ANKRD36B) c.1070-90A>G,-:0.48,-:NOT_FOUND,- 2 98173368 rs13015850 C T 203 nt VT=SNV;PN=G;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=C/0.6182,T/0.3818;PC=0.011;Gene=ANKRD36B/NM_025190.3/1;CC=c.1069+32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:133:117:0:0:64,69:2145,2106:0.00,203.43:0.00,154.62:0.00,48.80:0.00,1.00:0.00,1.00:0.00,1.00:56,57:10.0,71.3:0,0:0,0:31,44:104,106:23,29:-,NM_025190.3(ANKRD36B) c.1069+32G>A:-,0.4:-,NOT_FOUND 2 98173369 rs13025386 A G 209 nt VT=SNV;PN=C;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=A/0.6176,G/0.3824;PC=0.012;Gene=ANKRD36B/NM_025190.3/1;CC=c.1069+31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:134:117:0:0:64,69,1:2097,2164,8:0.00,209.18,-0.15:0.00,155.85,-0.10:0.00,53.33,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:56,57,42:10.2,68.5,237.0:0,0,0:0,0,0:32,49,46:109,97,105:23,33,0:-,NM_025190.3(ANKRD36B) c.1069+31T>C:-,0.39:-,NOT_FOUND 2 98173473 . C . . NT END=98173565;NT GT ./. 2 98173596 . C . . NT END=98175260;NT GT ./. 2 98173875 rs3925996 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5565,C/0.4435;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.968-280A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,T:10:0:0:0:6,4:175,135:17.44,0.00:0.00,0.00:17.44,0.00:0.99,0.00:0.00,0.00:0.99,0.00:40,50:42.3,16.5:0,0:0,0:134,104:17,46:9,19:NM_025190.3(ANKRD36B) c.968-280A>G,-:0.49,-:NOT_FOUND,- 2 98174984 rs11678517 T C 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=291;Gene=ANKRD36B/NM_025190.3/1;CC=c.967+278A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:C,T:10:10:0:0:4,6:115,197:10.48,0.00:10.48,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:51,50:62.2,39.5:0,0:0,0:36,69:114,82:31,24:NM_025190.3(ANKRD36B) c.967+278A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 98175138 rs11692849 G A 97 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.7069,A/0.2931;Gene=ANKRD36B/NM_025190.3/1;CC=c.967+124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:57:0:0:32,25:987,871:96.95,0.00:96.95,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:51,60:42.3,6.7:0,0:0,0:42,45:105,105:24,21:NM_025190.3(ANKRD36B) c.967+124C>T,-:0.34,-:NOT_FOUND,- 2 98175335 . C . . NT END=98175427;NT GT ./. 2 98175458 . C . . NT END=98177126;NT GT ./. 2 98175712 rs12993250 C T 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.7021,T/0.2979;NP=658;Gene=ANKRD36B/NM_025190.3/1;CC=c.866-255G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:0:0:0:14,9:391,296:0.00,27.27:0.00,0.00:0.00,27.27:0.00,1.00:0.00,0.00:0.00,1.00:42,42:67.5,38.9:0,0:0,0:88,117:62,32:30,27:-,NM_025190.3(ANKRD36B) c.866-255G>A:-,NOT_FOUND:-,NOT_FOUND 2 98175737 rs6708490 C T 7 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9471,T/0.05292;PC=0.079;Gene=ANKRD36B/NM_025190.3/1;CC=c.866-280G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:17:0:0:0:14,3:413,95:0.00,7.49:0.00,0.00:0.00,7.49:0.00,0.53:0.00,0.00:0.00,0.53:42,19:32.3,200.7:0,0:0,0:113,41:37,108:27,2:-,NM_025190.3(ANKRD36B) c.866-280G>A:-,0.12:-,NOT_FOUND 2 98177124 rs11681640 T G 135 nt VT=SNV;PN=A;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.7021,G/0.2979;PC=0.706;Gene=ANKRD36B/NM_025190.3/1;CC=c.865+4A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:108:97:0:0:42,66:1458,2122:134.51,0.00:101.98,0.00:32.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,23.2:0,0:0,0:39,49:108,99:24,25:NM_025190.3(ANKRD36B) c.865+4A>C,-:0.35,-:0.474424,- 2 98177201 . C . . NT END=98177293;NT GT ./. 2 98177305 rs114646833 C G 89 lc VT=SNV;PN=T;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=ANKRD36B/NM_025190.3/1;CC=c.782G>C;ProtCh=p.R261P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:90:34:0:0:1,56,33:11,1672,983:-0.13,0.00,88.63:-0.10,0.00,13.92:-0.03,0.00,74.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,41:21.0,7.9,50.5:0,0,0:0,0,0:90,81,90:61,64,61:0,30,30:-,NM_025190.3(ANKRD36B) c.782G>C (p.Arg261Pro):-,NOT_FOUND:-,NOT_FOUND 2 98177324 . C . . NT END=98192840;NT GT ./. 2 98177506 rs200838521 G T 7 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=13;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.764-183C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,G,T:24:0:0:0:1,20,3:10,658,99:-0.05,0.00,7.46:0.00,0.00,0.00:-0.05,0.00,7.46:0.00,0.00,0.47:0.00,0.00,0.00:0.00,0.00,0.47:25,41,19:115.0,19.9,177.3:0,0,0:0,0,0:88,97,58:39,54,93:0,37,9:-,NM_025190.3(ANKRD36B) c.764-183C>A:-,NOT_FOUND:-,NOT_FOUND 2 98177529 rs112849946 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=233;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.764-206G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,T:21:0:0:0:15,6:492,171:0.00,14.49:0.00,0.00:0.00,14.49:0.00,0.93:0.00,0.00:0.00,0.93:42,25:17.9,158.3:0,0:0,0:103,76:48,74:24,23:-,NM_025190.3(ANKRD36B) c.764-206G>A:-,NOT_FOUND:-,NOT_FOUND 2 98177553 rs75083119 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=199;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.764-230C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,G:18:0:0:0:5,13:165,373:14.28,0.00:0.00,0.00:14.28,0.00:0.87,0.00:0.00,0.00:0.87,0.00:25,51:167.0,8.2:0,0:0,0:96,113:55,37:9,35:NM_025190.3(ANKRD36B) c.764-230C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 98177572 rs111897345 A G 9 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=11;Gene=ANKRD36B/NM_025190.3/1;CC=c.764-249T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G:14:0:0:0:11,3:335,104:0.00,8.67:0.00,0.00:0.00,8.67:0.00,0.56:0.00,0.00:0.00,0.56:51,3:18.6,202.7:0,0:0,0:87,115:64,36:35,9:-,NM_025190.3(ANKRD36B) c.764-249T>C:-,NOT_FOUND:-,NOT_FOUND 2 98177585 rs112324987 A G 9 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=113;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.764-262T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,G:13:0:0:0:10,3:242,105:0.00,8.89:0.00,0.00:0.00,8.89:0.00,0.58:0.00,0.00:0.00,0.58:56,3:21.6,202.7:0,0:0,0:95,128:55,23:28,9:-,NM_025190.3(ANKRD36B) c.764-262T>C:-,NOT_FOUND:-,NOT_FOUND 2 98192743 rs537653684 A AAC 27 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6508,AAC/0.3492;NP=467;Gene=ANKRD36B/NM_025190.3/1;CC=c.763+98_763+99insGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,AAC:13:13:9:0:4,9:133,265:0.00,27.29:0.00,27.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,65:12.0,38.1:0,0:0,0:95,53:54,98:25,37:-,NM_025190.3(ANKRD36B) c.763+98_763+99insGT:-,NOT_FOUND:-,NOT_FOUND 2 98192749 rs55777246 T C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6454,C/0.3546;PC=0.137;Gene=ANKRD36B/NM_025190.3/1;CC=c.763+93A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:C,T:13:13:0:0:8,5:269,165:26.95,0.00:25.28,0.00:1.68,0.00:1.00,0.00:1.00,0.00:0.88,0.00:41,60:38.8,9.6:0,0:0,0:59,81:91,68:23,49:NM_025190.3(ANKRD36B) c.763+93A>G,-:0.17,-:NOT_FOUND,- 2 98192910 . C . . NT END=98195367;NT GT ./. 2 98195213 rs13427163 T C 49 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6174,C/0.3826;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.695+156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,T:21:21:0:0:14,7:485,183:49.42,0.00:49.42,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.6,4.9:0,0:0,0:23,67:127,84:16,34:NM_025190.3(ANKRD36B) c.695+156A>G,-:0.47,-:NOT_FOUND,- 2 98195507 . C . . NT END=98196923;NT GT ./. 2 98195581 rs13419462 C T 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.6176,T/0.3824;Gene=ANKRD36B/NM_025190.3/1;CC=c.558-75G>A;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:14:0:0:35,23:1142,714:0.00,65.44:0.00,6.05:0.00,59.39:0.00,1.00:0.00,1.00:0.00,1.00:60,40:12.5,34.7:0,0:0,0:83,100:68,51:37,35:-,NM_025190.3(ANKRD36B) c.558-75G>A:-,0.35:-,NOT_FOUND 2 98195765 rs199664493 A AC 12 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7169,AC/0.2831;NP=121;PC=0.157;Gene=ANKRD36B/NM_025190.3/1;CC=c.558-260_558-259insG;VC=Intron;DM=ANKRD36B/Ank_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,AC:9:0:5:0:4,5:130,128:0.00,12.49:0.00,0.00:0.00,12.49:0.00,0.96:0.00,0.00:0.00,0.96:51,40:0.0,2.6:0,0:0,0:18,52:132,99:16,40:-,NM_025190.3(ANKRD36B) c.558-260_558-259insG:-,NOT_FOUND:-,NOT_FOUND 2 98196707 rs7588718 G T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=ANKRD36B/NM_025190.3/1;CC=c.557+218C>A;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:G,T:12:12:0:0:7,5:212,157:0.00,14.55:0.00,14.55:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,56:5.4,44.8:0,0:0,0:61,23:90,127:40,14:-,NM_025190.3(ANKRD36B) c.557+218C>A:-,0.37:-,NOT_FOUND 2 98196849 rs34131105 G A 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.7021,A/0.2979;Gene=ANKRD36B/NM_025190.3/1;CC=c.557+76C>T;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:43:41:0:0:22,20,1:710,656,9:68.88,0.00,-0.04:64.37,0.00,-0.01:4.50,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:0.98,0.00,0.00:60,60,60:63.4,4.2,49.0:0,0,0:0,0,0:67,37,75:81,113,76:27,25,0:NM_025190.3(ANKRD36B) c.557+76C>T,-:0.39,-:NOT_FOUND,- 2 98196859 rs35904593 T G 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.6867,G/0.3133;Gene=ANKRD36B/NM_025190.3/1;CC=c.557+66A>C;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:47:44:0:0:25,22:736,684:71.35,0.00:65.77,0.00:5.58,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:62.1,1.7:0,0:0,0:76,42:72,107:29,28:NM_025190.3(ANKRD36B) c.557+66A>C,-:0.41,-:NOT_FOUND,- 2 98197032 . C . . NT END=98201405;NT GT ./. 2 98201216 rs199661602 G A 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=61;Gene=ANKRD36B/NM_025190.3/1;CC=c.450+191C>T;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,G,T:17:16:0:0:12,4,1:396,137,27:41.38,0.00,1.85:37.56,0.00,1.85:3.83,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.80,0.00,0.00:40,40,40:50.3,0.0,41.0:0,0,0:0,0,0:44,33,91:105,117,60:29,15,0:NM_025190.3(ANKRD36B) c.450+191C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 98201581 . C . . NT END=98201745;NT GT ./. 2 98201858 rs2442304 A G 54 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=206;DB;DBA=NA;PAF=NA;NP=15;PC=0.870;Gene=ANKRD36B/NM_025190.3/1;CC=c.165T>C;ProtCh=p.T55=;VC=Silent;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:206:94:0:0:183,23:6079,748:0.00,54.49:0.00,-3.17:0.00,57.66:0.00,1.00:0.00,1.00:0.00,1.00:57,25:6.3,35.4:0,0:0,0:93,75:50,76:27,28:-,NM_025190.3(ANKRD36B) c.165T>C (p.(=)):-,0.0014:-,NOT_FOUND 2 98201862 . C . . NT END=98205986;NT GT ./. 2 98205859 rs2924068 A G 8 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6354,G/0.3646;Gene=ANKRD36B/NM_025190.3/1;CC=c.161+129T>C;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:8:7:0:0:5,3:133,90:0.00,8.14:0.00,8.34:0.00,-0.20:0.00,0.67:0.00,0.95:0.00,0.58:43,9:119.4,169.0:0,0:0,0:5,27:139,124:1,3:-,NM_025190.3(ANKRD36B) c.161+129T>C:-,0.4:-,NOT_FOUND 2 98205882 rs144857350 T A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6008,A/0.3992;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.161+106A>T;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,T:15:14:0:0:5,10:133,254:11.54,0.00:11.71,0.00:-0.18,0.00:0.89,0.00:0.99,0.00:0.56,0.00:39,59:127.6,73.8:0,0:0,0:47,22:104,126:10,11:NM_025190.3(ANKRD36B) c.161+106A>T,-:0.3,-:NOT_FOUND,- 2 98205888 . G C 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;PC=0.002;Gene=ANKRD36B/NM_025190.3/1;CC=c.161+100C>G;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,G,T:19:18:0:0:4,14,1:86,351,15:6.40,0.00,0.44:6.50,0.00,0.46:-0.10,0.00,-0.02:0.72,0.00,0.00:0.96,0.00,0.00:0.47,0.00,0.00:43,59,42:164.0,51.4,91.0:0,0,0:0,0,0:58,18,2:93,131,149:5,15,0:NM_025190.3(ANKRD36B) c.161+100C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 98205924 rs74177639 C G 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.161+64G>C;VC=Intron;DM=ANKRD36B/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:54:50:0:0:35,19:1098,565:0.00,50.37:0.00,47.68:0.00,2.69:0.00,1.00:0.00,1.00:0.00,0.96:59,49:20.3,63.2:0,0:0,0:30,28:121,122:20,21:-,NM_025190.3(ANKRD36B) c.161+64G>C:-,0.29:-,NOT_FOUND 2 98206149 . G . . NT END=98262549;NT GT ./. 2 98206188 rs1868445 C G 210 nt VT=SNV;PN=T;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=C/0.6234,G/0.3766;Gene=ANKRD36B/NM_025190.3/1;CC=c.-40G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:172:84:0:0:101,71:3231,2272:0.00,210.44:0.00,52.75:0.00,157.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,52.2:0,0:0,0:97,99:45,46:24,27:-,NM_025190.3(ANKRD36B) c.-40G>C:-,0.47:-,0.573806 2 98206282 rs28415903 C T 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.6232,T/0.3768;PC=0.001;Gene=ANKRD36B/NM_025190.3/1;CC=c.-134G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:0:0:0:49,28:1275,871:0.00,78.63:0.00,0.00:0.00,78.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.3,90.5:0,0:0,0:96,97:55,52:31,31:-,NM_025190.3(ANKRD36B) c.-134G>A:-,0.46:-,NOT_FOUND 2 98206293 rs1814505 G A 69 nt VT=SNV;PN=C;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.6212,A/0.3788;Gene=ANKRD36B/NM_025190.3/1;CC=c.-145C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:66:0:0:0:25,40,1:756,1230,11:68.75,0.00,-0.08:0.00,0.00,0.00:68.75,0.00,-0.08:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:90.7,21.1,160.0:0,0,0:0,0,0:96,96,139:55,54,12:30,25,0:NM_025190.3(ANKRD36B) c.-145C>T,-:0.46,-:NOT_FOUND,- 2 98206429 rs3866776 G A 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3401,A/0.6599;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:231:26.44:0.00:26.44:1.00:0.00:1.00:51:66.1:0:0:139:12:11:NM_025190.3(ANKRD36B) c.-280-u1C>T,NM_025190.3(ANKRD36B) c.-280-u1C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 98254344 rs113911618 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9573,G/0.04273;PC=0.716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:0:0:0:16,16:506,505:0.00,48.48:0.00,0.00:0.00,48.48:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.4,46.5:0,0:0,0:91,97:59,54:19,18:-,chr2 g.98254343A>G (intergenic):-,0.05:-,NOT_FOUND 2 98262653 . G . . NT END=98263529;NT GT ./. 2 98263604 . G . . NT END=98263806;NT GT ./. 2 98263907 . G . . NT END=98264458;NT GT ./. 2 98264572 . G . . NT END=98273320;NT GT ./. 2 98273290 rs11547232 C T 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.6985,A/.,G/.,T/0.3015;Gene=ACTR1B/NM_005735.3/1;CC=c.*31G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:30:0:0:17,15:533,465:0.00,44.02:0.00,29.25:0.00,14.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,43.1:0,0:0,0:40,39:111,112:32,23:-,NM_005735.3(ACTR1B) c.*31G>A:-,0.4:-,0.485882 2 98273424 . C . . NT END=98273614;NT GT ./. 2 98273656 . C . . NT END=98273910;NT GT ./. 2 98273661 rs2290124 A G 250 nt VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.4683,G/0.5317;PC=0.001;Gene=ACTR1B/NM_005735.3/1;CC=c.988-6T>C;VC=Intron;DM=ACTR1B/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:41:0:0:66:2187:250.15:120.67:129.49:1.00:1.00:1.00:60:37.0:0:0:87:53:30:NM_005735.3(ACTR1B) c.988-6T>C,NM_005735.3(ACTR1B) c.988-6T>C:0.61,0.61:0.71121,0.71121 2 98273973 . C . . NT END=98274405;NT GT ./. 2 98274527 rs1042705 G C 504 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=G/0.4677,C/0.5323;Gene=ACTR1B/NM_005735.3/1;CC=c.804C>G;ProtCh=p.V268=;VC=Silent;DM=ACTR1B/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:135:100:0:0:135:4400:504.24:266.49:237.75:1.00:1.00:1.00:60:39.5:0:0:70:68:35:NM_005735.3(ACTR1B) c.804C>G (p.(=)),NM_005735.3(ACTR1B) c.804C>G (p.(=)):0.61,0.61:0.711595,0.711595 2 98274581 . C . . NT END=98274686;NT GT ./. 2 98274780 . C . . NT END=98274889;NT GT ./. 2 98275107 . C . . NT END=98275341;NT GT ./. 2 98275467 . C . . NT END=98275814;NT GT ./. 2 98275941 . C . . NT END=98277033;NT GT ./. 2 98276014 rs375112670 CCCTCACCTGCCCTGACCAGAA C 31 nt VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=CCCTCACCTGCCCTGACCAGAA/0.6951,C/0.3049;DB;DBA=NA;PAF=CCCTCACCTGCCCTGACCAGAA/0.6951,C/0.3049;NP=1630;PC=0.176;Gene=ACTR1B/NM_005735.3/1;CC=c.190-95_190-75delTTCTGGTCAGGGCAGGTGAGG;VC=Intron;DM=ACTR1B/Actin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCCTCACCTGCCCTGACCAGAA,C:73:25:0:14:60,13:1865,400:0.00,31.40:0.00,9.78:0.00,21.62:0.00,1.00:0.00,0.97:0.00,1.00:60,60:6.2,3.5:0,0:0,0:116,62:24,89:21,27:-,NM_005735.3(ACTR1B) c.190-95_190-75delTTCTGGTCAGGGCAGGTGAGG:-,0.4:-,NOT_FOUND 2 98277090 rs79616802 T C 79 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.8668,A/.,C/0.1332,G/.;PC=1.000;Gene=ACTR1B/NM_005735.3/1;CC=c.133A>G;ProtCh=p.M45V;VC=Missense;DM=ACTR1B/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:39:0:0:28,28:830,896:79.38,0.00:33.80,0.00:45.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.3,4.8:0,0:0,0:59,85:87,57:22,42:NM_005735.3(ACTR1B) c.133A>G (p.Met45Val),-:0.12,-:0.152237,- 2 98277110 . C . . NT END=98278344;NT GT ./. 2 98278410 . C . . NT END=98280305;NT GT ./. 2 98280055 rs55772322 G A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.724,A/0.276;PC=0.005;Gene=ACTR1B/NM_005735.3/1;CC=c.48+251C>T;VC=Intron;DM=ACTR1B/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,G:4:4:0:0:3,1:94,24:9.86,0.00:9.86,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:31.3,0.0:0,0:0,0:16,69:135,82:11,0:NM_005735.3(ACTR1B) c.48+251C>T,-:0.38,-:NOT_FOUND,- 2 98280354 . G . . NT END=98340499;NT GT ./. 2 98299539 rs56333365 C CCACACACA 9 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=11;NP=15;NP=24;PC=0.106;Gene=LINC01125/NR_038386.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,CCACACACA:7:8:4:0:4,3:140,135:0.00,9.44:0.00,9.74:0.00,-0.31:0.00,0.67:0.00,0.67:0.00,0.78:60,60:17.5,48.0:0,1:0,0:83,46:39,104:24,20:-,NR_038386.1(LOC728537) n.539-5819_539-5818insCACACACA:-,NOT_FOUND:-,NOT_FOUND 2 98340364 rs6712517 A C 186 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.3502,C/0.6498;Gene=ZAP70/NM_001079.3/1;CC=c.-21-115A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:C,G:49:49:0:0:48,1:1640,11:186.47,0.22:182.50,0.22:3.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,148.0:0,0:0,0:54,89:95,62:33,0:NM_001079.3(ZAP70) c.-21-115A>C,NM_001079.3(ZAP70) c.-21-115A>C:0.72,0.72:NOT_FOUND,NOT_FOUND 2 98340902 . G . . NT END=98340923;NT GT ./. 2 98341148 . G . . NT END=98341317;NT GT ./. 2 98341195 rs2289919 C T 67 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.8363,T/0.1637;Gene=ZAP70/NM_001079.3/1;CC=c.402+294C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:70:31:0:0:41,1,28:1229,11,738:0.00,-0.08,66.82:0.00,-0.12,12.34:0.00,0.04,54.48:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.8,81.0,36.1:0,0,0:0,0,0:88,55,107:62,53,44:35,0,21:-,NM_001079.3(ZAP70) c.402+294C>T:-,0.17:-,NOT_FOUND 2 98341357 . G . . NT END=98341554;NT GT ./. 2 98341716 . G . . NT END=98349345;NT GT ./. 2 98341728 rs2289918 C G 178 nt VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.8175,G/0.1825;PC=0.014;Gene=ZAP70/NM_001079.3/1;CC=c.563+13C>G;VC=Intron;DM=ZAP70/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:88:43:0:0:1,30,57:36,901,1754:1.98,0.00,178.28:-0.05,0.00,54.79:2.03,0.00,123.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:36.0,7.7,41.7:0,0,0:0,0,0:92,84,93:59,62,53:0,37,26:-,NM_001079.3(ZAP70) c.563+13C>G:-,0.19:-,0.18453 2 98349485 . G . . NT END=98349587;NT GT ./. 2 98349676 . G . . NT END=98349759;NT GT ./. 2 98349807 . G . . NT END=98350006;NT GT ./. 2 98350059 . G . . NT END=98350868;NT GT ./. 2 98351176 . G . . NT END=98351712;NT GT ./. 2 98351920 . G . . NT END=98353935;NT GT ./. 2 98351986 rs13002912 T C 124 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.5367,C/0.4633;Gene=ZAP70/NM_001079.3/1;CC=c.1289+67T>C;VC=Intron;Gene=ZAP70/NM_207519.1/0;CC=c.368+67T>C;VC=Intron;DM=ZAP70/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:14:0:0:43,41:1287,1313:123.93,0.00:15.99,0.00:107.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.7,20.3:0,0:0,0:111,108:38,42:25,27:NM_001079.3(ZAP70) c.1289+67T>C,-:0.52,-:NOT_FOUND,- 2 98354129 . G . . NT END=98354219;NT GT ./. 2 98354361 . G . . NT END=98354457;NT GT ./. 2 98354571 . G . . NT END=98355837;NT GT ./. 2 98355962 . G . . NT END=98373561;NT GT ./. 2 98356250 rs2278699 G C 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8512,C/0.1488;PC=0.002;Gene=ZAP70/NM_001079.3/1;CC=c.*289G>C;VC=3UTR;Gene=ZAP70/NM_207519.1/0;CC=c.*289G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,G:7:0:0:0:6,1:170,35:18.60,0.00:0.00,0.00:18.60,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:30.5,0.0:0,0:0,0:82,108:67,41:24,0:NM_001079.3(ZAP70) c.*289G>C,-:0.16,-:NOT_FOUND,- 2 98373842 rs149630938 A T 196 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=166;DB;DBA=NA;PAF=A/0.9876,T/0.01238;PC=1.000;Gene=TMEM131/NM_015348.1/1;CC=c.5372T>A;ProtCh=p.V1791D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:166:85:0:0:94,2,70:2807,33,2109:0.00,0.54,195.64:0.00,0.74,64.78:0.00,-0.21,130.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.5,21.5,33.3:0,0,0:0,0,0:77,75,81:70,75,60:32,13,38:-,NM_015348.1(TMEM131) c.5372T>A (p.Val1791Asp):-,0.01:-,0.02018 2 98373847 . C . . NT END=98375355;NT GT ./. 2 98374003 rs10169155 T G 71 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.7286,G/0.2714;Gene=TMEM131/NM_015348.1/1;CC=c.5368-157A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:32:1:0:0:21,11:699,346:70.98,0.00:3.49,0.00:67.48,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:45.2,5.6:0,0:0,0:106,107:45,44:34,28:NM_015348.1(TMEM131) c.5368-157A>C,-:0.29,-:NOT_FOUND,- 2 98375517 . C . . NT END=98376114;NT GT ./. 2 98375722 rs2305142 A G 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6915,G/0.3085;Gene=TMEM131/NM_015348.1/1;CC=c.5207-206T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:0:0:0:13:440:50.20:0.00:50.20:1.00:0.00:1.00:60:38.5:0:0:142:9:8:NM_015348.1(TMEM131) c.5207-206T>C,NM_015348.1(TMEM131) c.5207-206T>C:0.34,0.34:NOT_FOUND,NOT_FOUND 2 98376213 . C . . NT END=98377055;NT GT ./. 2 98376989 rs397819712 TA T 100 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=TA/0.4139,T/0.5861;DB;DBA=NA;PAF=TA/0.4139,T/0.5861;NP=1673;Gene=TMEM131/NM_015348.1/1;CC=c.5108+66delT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:28:0:29:29:860:99.81:90.77:9.04:1.00:1.00:1.00:60:13.6:0:0:47:104:34:NM_015348.1(TMEM131) c.5108+66delT,NM_015348.1(TMEM131) c.5108+66delT:0.64,0.64:NOT_FOUND,NOT_FOUND 2 98377153 . C . . NT END=98377255;NT GT ./. 2 98377378 . C . . NT END=98378497;NT GT ./. 2 98378664 . C . . NT END=98382576;NT GT ./. 2 98382727 . C . . NT END=98382940;NT GT ./. 2 98383066 . C . . NT END=98388759;NT GT ./. 2 98388888 . C . . NT END=98392305;NT GT ./. 2 98389086 rs12712117 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7424,T/0.2576;PC=0.001;Gene=TMEM131/NM_015348.1/1;CC=c.4321-199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:15:0:0:0:10,5:280,141:0.00,12.33:0.00,0.00:0.00,12.33:0.00,0.89:0.00,0.00:0.00,0.89:60,60:31.1,32.4:0,0:0,0:98,113:53,38:39,15:-,NM_015348.1(TMEM131) c.4321-199G>A:-,0.28:-,NOT_FOUND 2 98389095 rs142701861 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9944,G/0.005591;NP=16;PC=0.004;Gene=TMEM131/NM_015348.1/1;CC=c.4321-208T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,G:13:0:0:0:5,8:145,237:0.00,23.73:0.00,0.00:0.00,23.73:0.00,1.00:0.00,0.00:0.00,1.00:60,60:32.4,38.9:0,0:0,0:122,98:29,53:15,31:-,NM_015348.1(TMEM131) c.4321-208T>C:-,0.01:-,NOT_FOUND 2 98392302 rs17489259 G A 155 nt VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.9181,A/0.08187;Gene=TMEM131/NM_015348.1/1;CC=c.4320+4C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:82:0:0:48,42:1590,1204:155.04,0.00:113.57,0.00:41.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,14.8:0,0:0,0:61,47:89,95:34,33:NM_015348.1(TMEM131) c.4320+4C>T,-:0.11,-:0.166209,- 2 98392482 . C . . NT END=98408848;NT GT ./. 2 98409448 . C . . NT END=98409857;NT GT ./. 2 98410017 . C . . NT END=98411392;NT GT ./. 2 98411579 . C . . NT END=98412680;NT GT ./. 2 98412562 rs140197878 G GA 8 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=6;Gene=TMEM131/NM_015348.1/1;CC=c.3200+118dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,GA:10:10:3:0:7,3:221,97:0.00,8.48:0.00,8.48:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:10.4,0.0:0,0:0,0:25,45:125,105:15,7:-,NM_015348.1(TMEM131) c.3200+118_3200+119insT:-,0.02:-,NOT_FOUND 2 98412868 . C . . NT END=98413306;NT GT ./. 2 98413063 rs2293679 G T 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7021,T/0.2979;Gene=TMEM131/NM_015348.1/1;CC=c.3014-196C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:G,T:13:7:0:0:4,9:132,276:0.00,28.40:0.00,16.46:0.00,11.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,44.0:0,0:0,0:22,28:129,123:10,23:-,NM_015348.1(TMEM131) c.3014-196C>A:-,0.31:-,NOT_FOUND 2 98413450 . C . . NT END=98413827;NT GT ./. 2 98413980 . C . . NT END=98418357;NT GT ./. 2 98414015 rs79297691 T C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.9551,C/0.04493;Gene=TMEM131/NM_015348.1/1;CC=c.2719-36A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:11:0:0:9,20:310,599:27.51,0.00:4.58,0.00:22.93,0.00:0.99,0.00:0.97,0.00:1.00,0.00:60,60:36.6,17.4:0,0:0,0:105,81:46,55:17,32:NM_015348.1(TMEM131) c.2719-36A>G,-:0.04,-:0.043852,- 2 98418425 . C . . NT END=98418890;NT GT ./. 2 98418696 rs7595039 T C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.742,C/0.258;Gene=TMEM131/NM_015348.1/1;CC=c.2651+195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,T:9:6:0:0:5,4:146,111:14.30,0.00:11.28,0.00:3.02,0.00:0.96,0.00:0.99,0.00:0.92,0.00:60,60:44.6,13.2:0,0:0,0:55,123:96,26:40,16:NM_015348.1(TMEM131) c.2651+195A>G,-:0.28,-:NOT_FOUND,- 2 98418812 rs397872143 CA C 37 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CA/0.7013,C/0.2987;DB;DBA=NA;PAF=CA/0.7013,C/0.2987;NP=1521;PC=0.078;Gene=TMEM131/NM_015348.1/1;CC=c.2651+78delT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:CA,C:16:15:0:11:5,11:176,360:0.00,36.93:0.00,37.44:0.00,-0.51:0.00,1.00:0.00,1.00:0.00,0.79:60,60:28.8,4.8:0,0:0,0:25,21:126,128:16,12:-,NM_015348.1(TMEM131) c.2651+78delT:-,0.31:-,NOT_FOUND 2 98418876 rs17022568 C T 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.973,G/.,T/0.02696;Gene=TMEM131/NM_015348.1/1;CC=c.2651+15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:33:0:0:22,14:641,477:0.00,43.95:0.00,32.16:0.00,11.79:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.5,45.4:0,0:0,0:44,47:103,100:34,16:-,NM_015348.1(TMEM131) c.2651+15G>A:-,0.02:-,0.030944 2 98419001 . C . . NT END=98419114;NT GT ./. 2 98419254 . C . . NT END=98421550;NT GT ./. 2 98421669 . C . . NT END=98421838;NT GT ./. 2 98421915 . C . . NT END=98422013;NT GT ./. 2 98422167 . C . . NT END=98426150;NT GT ./. 2 98422296 rs1960329 T C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.742,C/0.258;Gene=TMEM131/NM_015348.1/1;CC=c.2056-130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:21:0:0:0:10,1,10:316,10,323:30.31,0.14,0.00:0.00,0.00,0.00:30.31,0.14,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.5,85.0,2.2:0,0,0:0,0,0:112,95,128:39,56,21:12,0,9:NM_015348.1(TMEM131) c.2056-130A>G,-:0.28,-:NOT_FOUND,- 2 98426068 rs371734341 TTACTC T 41 sb,nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TTACTC/0.9876,T/0.01238;DB;DBA=NA;PAF=TTACTC/0.9876,T/0.01238;NP=35;Gene=TMEM131/NM_015348.1/1;CC=c.2055+78_2055+82delGAGTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:TTACTC,T:18:18:0:12:6,12:173,405:0.00,41.30:0.00,39.69:0.00,1.61:0.00,1.00:0.00,1.00:0.00,0.91:60,60:26.3,2.1:0,0:0,0:66,53:84,95:21,26:-,NM_015348.1(TMEM131) c.2055+78_2055+82delGAGTA:-,0.01:-,NOT_FOUND 2 98426238 . C . . NT END=98427590;NT GT ./. 2 98427633 rs61729688 C T 92 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.973,T/0.02696;PC=1.000;Gene=TMEM131/NM_015348.1/1;CC=c.1926G>A;ProtCh=p.E642=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:45:29:0:0:1,16,28:11,519,913:0.09,0.00,92.11:0.17,0.00,41.55:-0.08,0.00,50.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:171.0,4.4,47.2:0,0,0:0,0,0:20,59,71:131,82,76:0,23,26:-,NM_015348.1(TMEM131) c.1926G>A (p.(=)):-,0.02:-,0.031282 2 98427696 . C . . NT END=98428883;NT GT ./. 2 98429019 . C . . NT END=98429101;NT GT ./. 2 98429213 . C . . NT END=98430433;NT GT ./. 2 98429438 rs3762593 C G 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4185,G/0.5815;Gene=TMEM131/NM_015348.1/1;CC=c.1618-226G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:188:22.08:0.00:22.08:1.00:0.00:1.00:60:54.4:0:0:130:20:13:NM_015348.1(TMEM131) c.1618-226G>C,NM_015348.1(TMEM131) c.1618-226G>C:0.64,0.64:NOT_FOUND,NOT_FOUND 2 98430605 . C . . NT END=98430697;NT GT ./. 2 98430852 . C . . NT END=98431661;NT GT ./. 2 98431771 . C . . NT END=98435075;NT GT ./. 2 98435185 . C . . NT END=98449827;NT GT ./. 2 98444355 rs190549806 G A 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.9734,A/0.02656;PC=0.387;Gene=TMEM131/NM_015348.1/1;CC=c.1074+5473C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:12:0:0:12,21:400,717:36.33,0.00:7.56,0.00:28.77,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,52:40.5,23.3:0,0:0,0:88,128:57,23:36,12:NM_015348.1(TMEM131) c.1074+5473C>T,-:0.02,-:NOT_FOUND,- 2 98449796 rs6721250 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=2712;Gene=TMEM131/NM_015348.1/1;CC=c.1074+32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:17:0:0:18:597:68.28:52.93:15.36:1.00:1.00:1.00:60:38.2:0:0:32:102:21:NM_015348.1(TMEM131) c.1074+32G>A,NM_015348.1(TMEM131) c.1074+32G>A:1,1:NOT_FOUND,NOT_FOUND 2 98449890 . C . . NT END=98451083;NT GT ./. 2 98451036 rs397870308 TA T 44 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=TA/0.6893,T/0.3107;DB;DBA=NA;PAF=NA;NP=132;Gene=TMEM131/NM_015348.1/1;CC=c.1012+47delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:TA,I,T:28:28:5:17:9,5,14:263,160,542:0.00,13.74,44.01:0.00,12.36,33.13:0.00,1.38,10.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,70:9.9,6.4,5.1:0,0,3:0,0,0:29,38,36:120,112,114:29,21,19:-,NM_015348.1(TMEM131) c.1012+47delT:-,NOT_FOUND:-,NOT_FOUND 2 98451141 . C . . NT END=98451237;NT GT ./. 2 98451389 . C . . NT END=98453539;NT GT ./. 2 98453621 . C . . NT END=98458277;NT GT ./. 2 98458002 rs6744331 T C 19 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.393,C/0.607;Gene=TMEM131/NM_015348.1/1;CC=c.723+276A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:60:48.2:0:0:7:143:3:NM_015348.1(TMEM131) c.723+276A>G,NM_015348.1(TMEM131) c.723+276A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 2 98458073 rs141196468 CCAGACTGCTGTATTCCAAAATT C 43 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CCAGACTGCTGTATTCCAAAATT/0.4531,C/0.5469;DB;DBA=NA;PAF=CCAGACTGCTGTATTCCAAAATT/0.4531,C/0.5469;NP=13;PC=0.005;Gene=TMEM131/NM_015348.1/1;CC=c.723+183_723+204delAATTTTGGAATACAGCAGTCTG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:13:13:370:43.16:43.16:0.00:1.00:1.00:0.00:70:33.3:0:0:32:102:29:NM_015348.1(TMEM131) c.723+183_723+204delAATTTTGGAATACAGCAGTCTG,NM_015348.1(TMEM131) c.723+183_723+204delAATTTTGGAATACAGCAGTCTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 98458401 . C . . NT END=98460607;NT GT ./. 2 98460441 rs66477711 TAG T 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAG/0.7468,T/0.2532;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TAG/0.7468,T/0.2532;NP=173;PC=0.001;Gene=TMEM131/NM_015348.1/1;CC=c.600+165_600+166delCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:TAG,T:4:4:0:2:2,2:45,67:0.00,6.46:0.00,6.46:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:37.5,0.0:0,0:0,0:74,36:76,114:30,9:-,NM_015348.1(TMEM131) c.600+165_600+166delCT:-,0.27:-,NOT_FOUND 2 98460725 . C . . NT END=98475766;NT GT ./. 2 98460742 rs12712162 G A 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.7414,A/0.2586;PC=0.999;Gene=TMEM131/NM_015348.1/1;CC=c.484-18C>T;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:16:0:0:18,20:578,628:54.97,0.00:14.46,0.00:40.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,12.5:0,0:0,0:95,93:53,57:28,24:NM_015348.1(TMEM131) c.484-18C>T,-:0.28,-:0.338756,- 2 98460855 rs6543161 G A 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.4189,A/0.5811;PC=0.006;Gene=TMEM131/NM_015348.1/1;CC=c.484-131C>T;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:318:36.99:0.00:36.99:1.00:0.00:1.00:60:45.1:0:0:116:34:28:NM_015348.1(TMEM131) c.484-131C>T,NM_015348.1(TMEM131) c.484-131C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 2 98475891 . C . . NT END=98504514;NT GT ./. 2 98475979 rs6707750 C T 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7326,T/0.2674;PC=0.004;Gene=TMEM131/NM_015348.1/1;CC=c.360-89G>A;VC=Intron;DM=TMEM131/TMEM131_like;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:7:0:0:18,16:551,482:0.00,45.64:0.00,7.51:0.00,38.13:0.00,1.00:0.00,0.98:0.00,1.00:60,60:6.1,37.4:0,0:0,0:87,121:63,22:25,21:-,NM_015348.1(TMEM131) c.360-89G>A:-,0.29:-,NOT_FOUND 2 98504584 . C . . NT END=98525120;NT GT ./. 2 98524859 rs2309316 A C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3918,C/0.6082;Gene=TMEM131/NM_015348.1/1;CC=c.290+262T>G;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:31.8:0:0:26:123:19:NM_015348.1(TMEM131) c.290+262T>G,NM_015348.1(TMEM131) c.290+262T>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 98525107 rs1317178 T C 182 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.4052,C/0.5948;Gene=TMEM131/NM_015348.1/1;CC=c.290+14A>G;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C,G:49:39:0:0:48,1:1600,12:182.43,0.27:113.86,0.27:68.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,181.0:0,0:0,0:52,108:96,41:31,0:NM_015348.1(TMEM131) c.290+14A>G,NM_015348.1(TMEM131) c.290+14A>G:0.65,0.65:0.813423,0.813423 2 98525162 . C . . NT END=98528083;NT GT ./. 2 98525302 rs114937781 A T 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9557,T/0.04433;PC=0.197;Gene=TMEM131/NM_015348.1/1;CC=c.250-141T>A;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:15:0:0:0:8,7:260,199:0.00,18.71:0.00,0.00:0.00,18.71:0.00,0.99:0.00,0.00:0.00,0.99:60,60:22.1,30.1:0,0:0,0:99,126:51,25:23,18:-,NM_015348.1(TMEM131) c.250-141T>A:-,0.04:-,NOT_FOUND 2 98528135 . C . . NT END=98543888;NT GT ./. 2 98543951 . C . . NT END=98611938;NT GT ./. 2 98544058 rs6707719 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.732,C/0.268;Gene=TMEM131/NM_015348.1/1;CC=c.188-108A>G;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:24:4:0:0:8,16:203,525:17.47,0.00:0.94,0.00:16.53,0.00:0.99,0.00:0.81,0.00:1.00,0.00:60,60:66.8,3.9:0,0:0,0:48,111:102,40:24,27:NM_015348.1(TMEM131) c.188-108A>G,-:0.29,-:NOT_FOUND,- 2 98611624 rs75740317 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9551,C/0.04493;PC=0.343;Gene=TMEM131/NM_015348.1/1;CC=c.187+315A>G;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:9:9:0:0:5,4:141,92:13.80,0.00:13.80,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:53.4,50.8:0,0:0,0:39,32:112,117:23,9:NM_015348.1(TMEM131) c.187+315A>G,-:0.04,-:NOT_FOUND,- 2 98611701 rs2279826 G C 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4199,C/0.5801;PC=0.002;Gene=TMEM131/NM_015348.1/1;CC=c.187+238C>G;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A,C:16:16:0:0:1,15:18,424:1.10,49.02:1.10,49.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:211.0,56.2:0,0:0,0:52,72:99,79:0,37:NM_015348.1(TMEM131) c.187+238C>G,NM_015348.1(TMEM131) c.187+238C>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 98611833 rs2279825 T C 138 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.4199,C/0.5801;PC=0.625;Gene=TMEM131/NM_015348.1/1;CC=c.187+106A>G;VC=Intron;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:35:0:0:37:1206:138.20:122.46:15.74:1.00:1.00:1.00:60:46.4:0:0:40:111:29:NM_015348.1(TMEM131) c.187+106A>G,NM_015348.1(TMEM131) c.187+106A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 2 98611994 rs2279824 G T 621 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=G/0.4079,T/0.5921;PC=1.000;Gene=TMEM131/NM_015348.1/1;CC=c.132C>A;ProtCh=p.G44=;VC=Silent;DM=TMEM131/TMEM131_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:176:136:0:0:2,2,172:20,16,5429:0.21,0.00,620.56:0.13,0.00,376.09:0.08,0.00,244.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:57.5,6.0,41.6:0,0,0:0,0,0:79,41,70:63,109,68:26,39,36:NM_015348.1(TMEM131) c.132C>A (p.(=)),NM_015348.1(TMEM131) c.132C>A (p.(=)):0.65,0.65:NOT_FOUND,NOT_FOUND 2 98612126 . C . . NT END=98709555;NT GT ./. 2 98612266 rs3088327 A G 185 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.4197,G/0.5803;PC=0.954;Gene=TMEM131/NM_015348.1/1;CC=c.-141T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:138:C,G:52:0:0:0:1,51:7,1610:0.08,184.85:0.00,0.00:0.08,184.85:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.0,37.9:0,0:0,0:16,106:135,45:0,25:NM_015348.1(TMEM131) c.-141T>C,NM_015348.1(TMEM131) c.-141T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 98631100 rs12612060 C G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7224,G/0.2776;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:5:3:0:0:3,2:99,71:0.00,6.59:0.00,1.46:0.00,5.14:0.00,0.46:0.00,0.80:0.00,0.87:60,60:122.3,41.0:0,0:0,0:102,122:48,29:4,17:-,chr2 g.98631099C>G (intergenic):-,0.32:-,NOT_FOUND 2 98709752 . G . . NT END=98732114;NT GT ./. 2 98732210 . G . . NT END=98735975;NT GT ./. 2 98736227 . G . . NT END=98737761;NT GT ./. 2 98737922 . G . . NT END=98744701;NT GT ./. 2 98744872 . G . . NT END=98750286;NT GT ./. 2 98750403 . G . . NT END=98779313;NT GT ./. 2 98779440 . G . . NT END=98797478;NT GT ./. 2 98786178 rs145639713 CTGTGTGTG C 11 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=VWA3B/NM_144992.4/1;CC=c.1114+6779_1114+6786delGTGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CTGTGTGTG,C:4:4:0:4:1,3:35,135:0.00,10.57:0.00,7.31:0.00,3.26:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,23.7:0,1:0,0:124,61:26,89:0,7:-,NM_144992.4(VWA3B) c.1114+6740_1114+6747delTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 98797676 . G . . NT END=98804437;NT GT ./. 2 98797744 rs4851890 C T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.2724,T/0.7276;Gene=VWA3B/NM_144992.4/1;CC=c.1311+69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:45:11:0:0:1,27,17:12,844,556:0.03,0.00,50.96:-0.05,0.00,5.03:0.08,0.00,45.93:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:33.0,5.4,36.1:0,0,0:0,0,0:132,118,112:19,32,30:0,15,18:-,NM_144992.4(VWA3B) c.1311+69C>T:-,0.69:-,NOT_FOUND 2 98804127 rs149983574 C CTG 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=21;PC=0.001;Gene=VWA3B/NM_144992.4/1;CC=c.1312-272_1312-271insGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,CTG:7:7:4:0:4,3:140,130:0.00,9.24:0.00,4.52:0.00,4.72:0.00,0.67:0.00,0.95:0.00,0.90:60,60:16.5,7.3:0,1:0,0:84,24:58,126:17,13:-,NM_144992.4(VWA3B) c.1312-311_1312-310insTG:-,NOT_FOUND:-,NOT_FOUND 2 98804314 rs1466156 G A 76 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.0621,A/0.9379;Gene=VWA3B/NM_144992.4/1;CC=c.1312-124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:37:0:0:23,15:760,469:75.93,0.00:74.81,0.00:1.12,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:38.7,8.7:0,0:0,0:37,35:114,116:28,18:NM_144992.4(VWA3B) c.1312-124G>A,-:0.92,-:NOT_FOUND,- 2 98804593 . G . . NT END=98809360;NT GT ./. 2 98809500 . G . . NT END=98810823;NT GT ./. 2 98810956 . G . . NT END=98828392;NT GT ./. 2 98811075 rs7579916 A G 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.07408,G/0.9259;Gene=VWA3B/NM_144992.4/1;CC=c.1737+120A>G;VC=Intron;DM=VWA3B/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:31:2:0:0:18,12,1:542,401,9:0.00,37.06,-0.04:0.00,1.57,-0.01:0.00,35.49,-0.03:0.00,1.00,0.00:0.00,0.69,0.00:0.00,1.00,0.00:60,60,60:7.6,40.7,19.0:0,0,0:0,0,0:117,85,84:33,66,67:22,20,0:-,NM_144992.4(VWA3B) c.1737+120A>G:-,0.92:-,NOT_FOUND 2 98828492 . G . . NT END=98833371;NT GT ./. 2 98833439 . G . . NT END=98834308;NT GT ./. 2 98833445 rs139373261 A ACCC 10 sb;idl,nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=10;NP=3;NP=8;PC=0.011;Gene=VWA3B/NM_144992.4/1;CC=c.1837-863_1837-861dupCCC;VC=Intron;DM=VWA3B/VWA_3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C,ACCC:39:28:9:0:33,1,5:984,34,273:0.00,1.91,10.27:0.00,-0.16,0.54:0.00,2.07,9.72:0.00,0.00,0.75:0.00,0.00,0.91:0.00,0.00,0.94:60,60,60:8.0,68.0,85.0:0,1,4:0,0,0:99,86,88:37,62,63:25,0,27:-,NM_144992.4(VWA3B) c.1837-864_1837-863insCCC:-,NOT_FOUND:-,NOT_FOUND 2 98833449 rs62156666 G C 54 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2558,A/.,C/0.7442,T/.;Gene=VWA3B/NM_144992.4/1;CC=c.1837-860G>C;VC=Intron;DM=VWA3B/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:43:23:0:0:18,25:581,817:54.04,0.00:11.85,0.00:42.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.1,7.2:1,0:0,0:101,78:41,64:22,18:NM_144992.4(VWA3B) c.1837-860G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 98833594 rs10172087 C T 12 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1943,T/0.8057;PC=0.005;Gene=VWA3B/NM_144992.4/1;CC=c.1837-715C>T;VC=Intron;DM=VWA3B/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:9:0:0:0:5,4:141,124:0.00,11.63:0.00,0.00:0.00,11.63:0.00,0.85:0.00,0.00:0.00,0.85:60,60:37.2,40.5:0,0:0,0:92,142:52,8:32,1:-,NM_144992.4(VWA3B) c.1837-715C>T:-,0.77:-,NOT_FOUND 2 98834492 . G . . NT END=98844664;NT GT ./. 2 98844334 rs7590288 G A 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.0595,A/0.9405;Gene=VWA3B/NM_144992.4/1;CC=c.2020-331G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:38.7:0:0:30:120:22:NM_144992.4(VWA3B) c.2020-331G>A,NM_144992.4(VWA3B) c.2020-331G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 2 98844575 rs7606220 A G 74 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.3107,G/0.6893;Gene=VWA3B/NM_144992.4/1;CC=c.2020-90A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:32:0:0:16,23:487,742:0.00,73.70:0.00,59.12:0.00,14.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,55.5:0,0:0,0:53,56:94,93:23,32:-,NM_144992.4(VWA3B) c.2020-90A>G:-,0.64:-,NOT_FOUND 2 98844674 rs7601049 C G 143 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.3109,G/0.6891;PC=0.001;Gene=VWA3B/NM_144992.4/1;CC=c.2029C>G;ProtCh=p.L677V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:81:55:0:0:36,45:1166,1457:0.00,142.95:0.00,78.22:0.00,64.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,46.3:0,0:0,0:62,67:88,78:25,25:-,NM_144992.4(VWA3B) c.2029C>G (p.Leu677Val):-,0.64:-,0.620675 2 98844796 . G . . NT END=98846512;NT GT ./. 2 98844918 rs80013524 G A 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.8808,A/0.1192;Gene=VWA3B/NM_144992.4/1;CC=c.2150+123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:2:0:0:18,18:593,602:57.05,0.00:-0.30,0.00:57.35,0.00:1.00,0.00:0.79,0.00:1.00,0.00:60,60:36.1,8.6:0,0:0,0:99,96:50,53:25,16:NM_144992.4(VWA3B) c.2150+123G>A,-:0.14,-:NOT_FOUND,- 2 98846301 rs12999985 T C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3327,C/0.6673,G/.;Gene=VWA3B/NM_144992.4/1;CC=c.2151-212T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:8:8:0:0:3,5:93,148:8.44,0.00:8.44,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:64.7,21.8:0,0:0,0:25,62:126,89:11,17:NM_144992.4(VWA3B) c.2151-212T>C,-:0.61,-:NOT_FOUND,- 2 98846405 rs12712252 A T 95 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.07188,T/0.9281;PC=0.039;Gene=VWA3B/NM_144992.4/1;CC=c.2151-108A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:24:0:0:26:831:95.50:79.10:16.40:1.00:1.00:1.00:60:38.7:0:0:38:112:27:NM_144992.4(VWA3B) c.2151-108A>T,NM_144992.4(VWA3B) c.2151-108A>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 98846671 . G . . NT END=98851110;NT GT ./. 2 98851231 . G . . NT END=98852852;NT GT ./. 2 98852941 . G . . NT END=98853036;NT GT ./. 2 98853173 rs11889349 G A 170 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.3359,A/0.6641;PC=0.001;Gene=VWA3B/NM_144992.4/1;CC=c.2653G>A;ProtCh=p.V885M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:125:57:0:0:56,1,68:1807,10,2183:170.33,-0.15,0.00:44.41,-0.08,0.00:125.92,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,36,60:40.5,242.0,7.9:0,0,0:0,0,0:98,67,95:44,81,51:26,0,28:NM_144992.4(VWA3B) c.2653G>A (p.Val885Met),-:0.6,-:0.566554,- 2 98853194 . G . . NT END=98866780;NT GT ./. 2 98853364 rs13033263 C A 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3111,A/0.6889;Gene=VWA3B/NM_144992.4/1;CC=c.2673+171C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,C:12:0:0:0:4,8:138,233:12.40,0.00:0.00,0.00:12.40,0.00:0.80,0.00:0.00,0.00:0.80,0.00:60,60:75.2,5.6:0,0:0,0:73,96:78,53:27,35:NM_144992.4(VWA3B) c.2673+171C>A,-:0.64,-:NOT_FOUND,- 2 98853373 rs13013876 G T 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.2899,T/0.7101;Gene=VWA3B/NM_144992.4/1;CC=c.2673+180G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:G,T:12:0:0:0:7,5:249,169:0.00,15.75:0.00,0.00:0.00,15.75:0.00,0.92:0.00,0.00:0.00,0.92:60,60:1.7,66.6:0,0:0,0:80,63:70,88:22,42:-,NM_144992.4(VWA3B) c.2673+180G>T:-,0.65:-,NOT_FOUND 2 98866775 rs6747410 A G 75 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.89,G/0.11;Gene=VWA3B/NM_144992.4/1;CC=c.2674-6A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:45:0:0:27,25:863,785:0.00,74.74:0.00,41.76:0.00,32.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,35.3:0,0:0,0:49,37:87,113:35,27:-,NM_144992.4(VWA3B) c.2674-6A>G:-,0.13:-,0.0505 2 98866900 . G . . NT END=98872586;NT GT ./. 2 98866980 . C CT 8 rn VT=INS;SST=Single;DP=12;NP=1;Gene=VWA3B/NM_144992.4/1;CC=c.2792+95dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,CT,D:11:1:3:3:6,3,2:166,88,95:0.00,7.68,4.93:0.00,0.00,0.00:0.00,7.68,4.93:0.00,0.59,0.00:0.00,0.50,0.00:0.00,0.93,0.00:60,60,60:9.2,27.0,0.0:0,0,1:0,0,0:78,55,133:72,95,18:31,8,1:-,NM_144992.4(VWA3B) c.2792+81_2792+82insT:-,NOT_FOUND:-,NOT_FOUND 2 98872570 rs199787027 CT C 18 idl,rn VT=DEL;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=26;Gene=VWA3B/NM_144992.4/1;CC=c.2793-6delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:CT,I,C:83:63:5:10:72,3,8:2300,142,251:0.00,4.77,17.63:0.00,1.57,13.54:0.00,3.20,4.09:0.00,0.00,0.93:0.00,0.00,0.99:0.00,0.00,0.97:60,60,60:17.0,53.3,32.4:0,2,0:0,0,0:53,80,46:89,71,102:33,9,23:-,NM_144992.4(VWA3B) c.2793-16delT:-,NOT_FOUND:-,0.015852 2 98872638 . G . . NT END=98887144;NT GT ./. 2 98872662 rs565041973 C CT 52 idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=506;Gene=VWA3B/NM_144992.4/1;CC=c.2843+36dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:70:44:19:7:45,19,6:1437,600,219:0.00,52.13,13.32:0.00,19.09,8.87:0.00,33.04,4.46:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:17.0,10.9,5.7:1,0,1:0,0,0:111,85,105:38,56,46:30,23,15:-,NM_144992.4(VWA3B) c.2843+25_2843+26insT:-,NOT_FOUND:-,NOT_FOUND 2 98887116 rs4851955 G C 72 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.6695,C/0.3305;Gene=VWA3B/NM_144992.4/1;CC=c.2844-29G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:47:43:0:0:22,25:758,840:72.19,0.00:51.59,0.00:20.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,3.6:0,0:0,0:45,49:89,98:21,25:NM_144992.4(VWA3B) c.2844-29G>C,-:0.39,-:0.42845,- 2 98887347 . G . . NT END=98906973;NT GT ./. 2 98907086 . G . . NT END=98914369;NT GT ./. 2 98914495 . G . . NT END=98916541;NT GT ./. 2 98916680 . G . . NT END=98920164;NT GT ./. 2 98920266 . G . . NT END=98928281;NT GT ./. 2 98928494 rs7587534 G A 761 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=209;DB;DBA=NA;PAF=G/0.007987,A/0.992;PC=0.001;Gene=VWA3B/NM_144992.4/1;CC=c.3734G>A;ProtCh=p.R1245K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:209:132:0:0:206,1,2:6679,28,35:761.31,1.01,0.00:325.53,-0.00,0.00:435.78,1.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.5,99.0,38.0:0,0,1:0,0,0:80,59,133:70,50,9:32,0,14:NM_144992.4(VWA3B) c.3734G>A (p.Arg1245Lys),NM_144992.4(VWA3B) c.3734G>A (p.Arg1245Lys):0.99,0.99:0.968441,0.968441 2 98928813 . G . . NT END=98986438;NT GT ./. 2 98928929 rs1466944 A G 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.648,G/0.352;Gene=VWA3B/NM_144992.4/1;CC=c.*117A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:40:2:0:0:21,1,18:603,17,553:0.00,0.44,52.24:0.00,-0.01,3.10:0.00,0.44,49.14:0.00,0.00,1.00:0.00,0.00,0.75:0.00,0.00,1.00:60,60,60:17.5,37.0,50.7:0,0,0:0,0,0:82,132,84:69,19,66:33,0,40:-,NM_144992.4(VWA3B) c.*117A>G:-,0.41:-,NOT_FOUND 2 98986540 . G . . NT END=98994149;NT GT ./. 2 98994264 . G . . NT END=98994520;NT GT ./. 2 98994309 rs58990587 T G 104 nt VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.673;Gene=CNGA3/NM_001079878.1/0;CC=c.215+46T>G;VC=Intron;Gene=CNGA3/NM_001298.2/1;CC=c.215+46T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:62:26:0:0:34,28:1060,922:103.61,0.00:33.78,0.00:69.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,23.1:0,0:0,0:106,77:44,74:28,34:NM_001298.2(CNGA3) c.215+46T>G,-:0.06,-:0.072388,- 2 98994414 rs937725 T C 168 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.3728,C/0.6272;Gene=CNGA3/NM_001079878.1/0;CC=c.215+151T>C;VC=Intron;Gene=CNGA3/NM_001298.2/1;CC=c.215+151T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:29:0:0:46:1465:168.30:111.64:56.66:1.00:1.00:1.00:60:45.8:0:0:72:78:40:NM_001298.2(CNGA3) c.215+151T>C,NM_001298.2(CNGA3) c.215+151T>C:0.64,0.64:NOT_FOUND,NOT_FOUND 2 98994686 . G . . NT END=98996637;NT GT ./. 2 98994973 rs1910699 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1765,T/0.8235;Gene=CNGA3/NM_001079878.1/0;CC=c.215+710C>T;VC=Intron;Gene=CNGA3/NM_001298.2/1;CC=c.215+710C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:160:18.38:0.00:18.38:1.00:0.00:1.00:60:38.2:0:0:86:65:41:NM_001298.2(CNGA3) c.215+710C>T,NM_001298.2(CNGA3) c.215+710C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 2 98996818 . G . . NT END=98999850;NT GT ./. 2 98996985 rs2271039 A T 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.4077,T/0.5923;Gene=CNGA3/NM_001079878.1/0;CC=c.395+168A>T;VC=Intron;Gene=CNGA3/NM_001298.2/1;CC=c.395+168A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:23:0:0:0:11,12:336,337:0.00,32.41:0.00,0.00:0.00,32.41:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.4,37.8:0,0:0,0:80,85:71,65:24,26:-,NM_001298.2(CNGA3) c.395+168A>T:-,0.6:-,NOT_FOUND 2 98999905 . G . . NT END=99006120;NT GT ./. 2 99006238 . G . . NT END=99008326;NT GT ./. 2 99008434 . G . . NT END=99012306;NT GT ./. 2 99013719 . A . . NT END=99136511;NT GT ./. 2 99076563 . CGTGT C 10 rn VT=DEL;SST=Single;DP=4;Gene=INPP4A/NM_001566.2/0;CC=c.-166+15044_-166+15047delGTGT;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.-166+15044_-166+15047delGTGT;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.-166+15044_-166+15047delGTGT;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.-166+15044_-166+15047delGTGT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:CGTGT,C:4:1:0:3:1,3:31,92:0.00,9.65:0.00,1.68:0.00,7.98:0.00,0.85:0.00,0.83:0.00,0.85:60,60:0.0,3.3:0,0:0,0:126,97:25,54:0,12:-,NM_001134224.1(INPP4A) c.-166+15016_-166+15019delGTGT:-,NOT_FOUND:-,NOT_FOUND 2 99136266 rs2278212 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7005,C/0.2995;Gene=INPP4A/NM_001566.2/0;CC=c.-103-143T>C;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.-103-143T>C;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.-103-143T>C;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.-103-143T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:C,T:6:6:0:0:4,2:143,60:14.55,0.00:14.55,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:35.8,50.0:0,0:0,0:76,59:74,81:19,28:NM_001134224.1(INPP4A) c.-103-143T>C,-:0.29,-:NOT_FOUND,- 2 99136618 . G . . NT END=99137149;NT GT ./. 2 99137195 . G . . NT END=99149839;NT GT ./. 2 99149946 rs2278211 G A 78 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.7696,A/0.2304;PC=0.912;Gene=INPP4A/NM_001566.2/0;CC=c.258G>A;ProtCh=p.T86=;VC=Silent;Gene=INPP4A/NM_001134224.1/1;CC=c.258G>A;ProtCh=p.T86=;VC=Silent;Gene=INPP4A/NM_001134225.1/0;CC=c.258G>A;ProtCh=p.T86=;VC=Silent;Gene=INPP4A/NM_004027.2/0;CC=c.258G>A;ProtCh=p.T86=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:24:0:0:25,20:793,617:77.76,0.00:15.17,0.00:62.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,15.3:0,0:0,0:89,89:62,56:24,16:NM_001134224.1(INPP4A) c.258G>A (p.(=)),-:0.23,-:0.213077,- 2 99149959 . G . . NT END=99152191;NT GT ./. 2 99152309 . G . . NT END=99152591;NT GT ./. 2 99152672 . G . . NT END=99154325;NT GT ./. 2 99154229 rs2278208 C T 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.754,T/0.246;Gene=INPP4A/NM_001566.2/0;CC=c.468-97C>T;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.468-97C>T;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.468-97C>T;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.468-97C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:9,9:274,287:0.00,27.56:0.00,27.71:0.00,-0.15:0.00,1.00:0.00,1.00:0.00,0.67:60,60:5.3,42.1:0,0:0,0:15,46:136,103:10,19:-,NM_001134224.1(INPP4A) c.468-97C>T:-,0.24:-,NOT_FOUND 2 99154438 . G . . NT END=99155353;NT GT ./. 2 99155445 . G . . NT END=99155990;NT GT ./. 2 99156139 . G . . NT END=99160339;NT GT ./. 2 99156296 rs6734569 G T 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.8528,T/0.1472;Gene=INPP4A/NM_001566.2/0;CC=c.818+158G>T;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.818+158G>T;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.818+158G>T;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.818+158G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:19:0:0:0:8,11:225,345:0.00,34.14:0.00,0.00:0.00,34.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.5,36.8:0,0:0,0:113,81:37,70:21,51:-,NM_001134224.1(INPP4A) c.818+158G>T:-,0.17:-,NOT_FOUND 2 99160471 . G . . NT END=99162431;NT GT ./. 2 99160508 rs55833229 GCA G 44 idl,rn VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=195;Gene=INPP4A/NM_001566.2/0;CC=c.949+56_949+57delAC;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.949+56_949+57delAC;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.949+56_949+57delAC;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.949+56_949+57delAC;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCA,G:44:22:0:19:28,16:907,585:0.00,43.71:0.00,23.68:0.00,20.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,11.9:0,3:0,0:93,78:45,70:33,33:-,NM_001134224.1(INPP4A) c.949+39_949+40delCA:-,NOT_FOUND:-,NOT_FOUND 2 99162537 . G . . NT END=99163048;NT GT ./. 2 99163158 . G . . NT END=99165414;NT GT ./. 2 99163261 rs2278207 T A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.7538,A/0.2462;Gene=INPP4A/NM_001566.2/0;CC=c.1163+104T>A;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.1163+104T>A;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.1163+104T>A;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.1163+104T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:18:0:0:0:7,11:228,376:20.91,0.00:0.00,0.00:20.91,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:49.4,2.7:0,0:0,0:94,105:57,46:36,28:NM_001134224.1(INPP4A) c.1163+104T>A,-:0.24,-:NOT_FOUND,- 2 99165433 . G . . NT END=99169248;NT GT ./. 2 99169433 . G . . NT END=99170733;NT GT ./. 2 99170953 . G . . NT END=99172015;NT GT ./. 2 99172244 rs2278206 A G 140 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.7157,G/0.2843,T/.;PC=0.004;Gene=INPP4A/NM_001566.2/0;CC=c.1720+90A>G;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.1810A>G;ProtCh=p.T604A;VC=Missense;Gene=INPP4A/NM_001134225.1/0;CC=c.1795A>G;ProtCh=p.T599A;VC=Missense;Gene=INPP4A/NM_004027.2/0;CC=c.1720+90A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:101:49:0:0:52,1,47,1:1667,9,1472,11:0.00,-0.15,139.68,-0.10:0.00,-0.09,35.67,-0.09:0.00,-0.06,104.01,-0.02:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:4.8,30.0,40.7,110.0:0,0,0,0:0,0,0,0:94,110,78,131:46,41,65,20:34,0,31,0:-,NM_001134224.1(INPP4A) c.1810A>G (p.Thr604Ala):-,0.28:-,0.253176 2 99172272 . G . . NT END=99175925;NT GT ./. 2 99175959 . G . . NT END=99179927;NT GT ./. 2 99176094 rs72821960 G A 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9888,A/0.01118;PC=0.017;Gene=INPP4A/NM_001566.2/0;CC=c.1753+136G>A;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.1870+136G>A;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.1855+136G>A;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.1753+136G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:A,G:12:0:0:0:6,6:181,178:17.33,0.00:0.00,0.00:17.33,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:52.3,16.2:0,0:0,0:94,78:57,73:44,34:NM_001134224.1(INPP4A) c.1870+136G>A,-:0.01,-:NOT_FOUND,- 2 99180101 . G . . NT END=99181102;NT GT ./. 2 99181227 . G . . NT END=99182102;NT GT ./. 2 99181315 rs3214545 AT A 67 nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=AT/0.7568,A/0.2432;NP=212;Gene=INPP4A/NM_001566.2/0;CC=c.2050+90delT;VC=Intron;Gene=INPP4A/NM_001134224.1/1;CC=c.2167+90delT;VC=Intron;Gene=INPP4A/NM_001134225.1/0;CC=c.2152+90delT;VC=Intron;Gene=INPP4A/NM_004027.2/0;CC=c.2050+90delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:51:6:0:23:28,23:857,709:0.00,66.64:0.00,6.52:0.00,60.12:0.00,1.00:0.00,0.96:0.00,1.00:60,70:12.0,15.3:0,0:0,0:102,107:48,44:37,29:-,NM_001134224.1(INPP4A) c.2167+90delT:-,0.24:-,NOT_FOUND 2 99182230 . G . . NT END=99182491;NT GT ./. 2 99182633 . G . . NT END=99185033;NT GT ./. 2 99185132 . G . . NT END=99189277;NT GT ./. 2 99189391 . G . . NT END=99193451;NT GT ./. 2 99193496 rs2230388 C T 188 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.7436,T/0.2564;PC=0.991;Gene=INPP4A/NM_001566.2/0;CC=c.2574C>T;ProtCh=p.S858=;VC=Silent;Gene=INPP4A/NM_001134224.1/1;CC=c.2691C>T;ProtCh=p.S897=;VC=Silent;Gene=INPP4A/NM_001134225.1/0;CC=c.2676C>T;ProtCh=p.S892=;VC=Silent;Gene=INPP4A/NM_004027.2/0;CC=c.2574C>T;ProtCh=p.S858=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:128:96:0:0:1,64,63:10,2073,1964:-0.14,0.00,188.19:-0.02,0.00,101.57:-0.12,0.00,86.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:30.0,8.5,37.2:0,0,0:0,0,0:41,80,42:110,64,108:0,27,29:-,NM_001134224.1(INPP4A) c.2691C>T (p.(=)):-,0.25:-,0.2287 2 99193607 . G . . NT END=99198038;NT GT ./. 2 99198285 . T . . NT END=99203938;NT GT ./. 2 99204072 . A . . NT END=99217214;NT GT ./. 2 99217257 . C . . NT END=99220570;NT GT ./. 2 99220655 . C . . NT END=99224769;NT GT ./. 2 99220707 rs4851144 T C 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.7448,C/0.2552;Gene=COA5/NM_001008215.2/1;CC=c.100-53A>G;VC=Intron;DM=COA5/Pet191_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:14:0:0:18,15:603,462:59.00,0.00:10.54,0.00:48.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,6.9:0,0:0,0:112,110:39,41:20,10:NM_001008215.2(COA5) c.100-53A>G,-:0.25,-:0.232472,- 2 99224869 . G . . NT END=99226171;NT GT ./. 2 99224998 rs17034241 C G 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.7328,G/0.2672 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:21:1:0:0:8,13:243,418:0.00,41.94:0.00,1.83:0.00,40.11:0.00,1.00:0.00,0.75:0.00,1.00:60,60:9.4,43.9:0,0:0,0:108,120:42,29:20,28:-,NM_001008215.2(COA5) c.-113-u17G>C:-,0.26:-,NOT_FOUND 2 99226021 rs3203856 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7452,T/0.2548;Gene=UNC50/NM_014044.5/1;CC=c.-4-198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,T:12:12:0:0:7,5:230,170:0.00,15.85:0.00,15.96:0.00,-0.12:0.00,0.92:0.00,0.92:0.00,0.61:60,60:8.7,36.0:0,0:0,0:36,12:108,139:14,8:-,NM_014044.5(UNC50) c.-4-198C>T:-,0.25:-,NOT_FOUND 2 99226173 rs1062847 T A 138 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.7143,A/0.2857;Gene=UNC50/NM_014044.5/1;CC=c.-4-46T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:101:94:0:0:47,1,53:1459,11,1715:138.23,-0.10,0.00:118.78,-0.06,0.00:19.45,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.1,65.0,12.2:0,0,0:0,0,0:34,29,40:109,119,108:23,0,24:NM_014044.5(UNC50) c.-4-46T>A,-:0.28,-:0.262494,- 2 99226503 . G . . NT END=99227237;NT GT ./. 2 99227359 . G . . NT END=99232669;NT GT ./. 2 99232810 . G . . NT END=99232894;NT GT ./. 2 99232997 . G . . NT END=99234630;NT GT ./. 2 99234586 rs566349570 A AT 52 idl,rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.5086,AT/0.4914,ATT/.;DB;DBA=NA;PAF=A/0.5086,AT/0.4914,ATT/.,ATTTAT/.;NP=304;Gene=UNC50/NM_014044.5/1;CC=c.644-30_644-29insT;VC=Intron;DM=UNC50/UNC-50;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT,D:56:51:19:2:35,1,18,2:1083,10,609,65:0.00,-0.11,51.52,4.01:0.00,-0.23,42.43,2.89:0.00,0.12,9.09,1.12:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:60,60,70,60:35.4,51.0,29.2,9.0:0,1,1,0:0,0,0,0:49,82,45,74:102,66,106,77:31,0,21,26:-,NM_014044.5(UNC50) c.644-45_644-44insT:-,NOT_FOUND:-,NOT_FOUND 2 99234601 rs57212171 T TA 35 idl,nt VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8554,A/0.1446;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=69;PC=0.004;Gene=UNC50/NM_014044.5/1;CC=c.644-27_644-26insA;VC=Intron;DM=UNC50/UNC-50;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:50:47:17:0:6,31,13:196,973,523:15.16,0.00,34.67:12.74,0.00,31.12:2.42,0.00,3.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,70,60:57.5,24.2,38.8:0,0,4:0,0,0:62,63,62:87,87,89:25,30,24:-,NM_014044.5(UNC50) c.644-30_644-29insA:-,NOT_FOUND:-,0.096144 2 99234768 . A . . NT END=99238126;NT GT ./. 2 99239164 rs72825704 T C 166 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.8293,C/0.1707;Gene=MGAT4A/NM_001160154.1/0;CC=c.1198-1196A>G;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.*2865A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:94:61:0:0:50,2,42:1693,24,1377:165.59,0.27,0.00:80.62,-0.20,0.00:84.98,0.47,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:51.5,34.5,2.8:0,0,0:0,0,0:59,57,45:84,94,83:35,57,30:NM_012214.2(MGAT4A) c.*2865A>G,-:0.16,-:NOT_FOUND,- 2 99239269 rs72825708 C T 128 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.8554,T/0.1446;Gene=MGAT4A/NM_001160154.1/0;CC=c.1198-1301G>A;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.*2760G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:53:0:0:46,43:1520,1340:0.00,127.68:0.00,56.61:0.00,71.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,52.3:0,0:0,0:73,97:73,47:47,27:-,NM_012214.2(MGAT4A) c.*2760G>A:-,0.14:-,NOT_FOUND 2 99239497 rs72825710 G A 119 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.8299,A/0.1701;Gene=MGAT4A/NM_001160154.1/0;CC=c.1198-1529C>T;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.*2532C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:65:0:0:41,43:1244,1465:118.58,0.00:85.04,0.00:33.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,15.2:0,0:0,0:36,61:109,89:29,45:NM_012214.2(MGAT4A) c.*2532C>T,-:0.16,-:NOT_FOUND,- 2 99239931 rs12618769 C T 144 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.8407,T/0.1593;PC=0.002;Gene=MGAT4A/NM_001160154.1/0;CC=c.1198-1963G>A;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.*2098G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:103:59:0:0:54,49:1861,1514:0.00,143.73:0.00,72.25:0.00,71.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,41.2:0,0:0,0:72,73:79,78:34,35:-,NM_012214.2(MGAT4A) c.*2098G>A:-,0.15:-,NOT_FOUND 2 99240243 rs72825711 A T 123 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.8293,T/0.1707;Gene=MGAT4A/NM_001160154.1/0;CC=c.1197+1943T>A;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.*1786T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:100:65:0:0:59,41:1998,1327:0.00,122.84:0.00,68.76:0.00,54.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,39.8:0,0:0,0:62,61:86,89:37,33:-,NM_012214.2(MGAT4A) c.*1786T>A:-,0.16:-,NOT_FOUND 2 99240480 rs79974244 C CT 21 idl,rn VT=INS;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=3;PC=0.397;Gene=MGAT4A/NM_001160154.1/0;CC=c.1197+1705_1197+1706insA;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.*1548_*1549insA;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:C,T,CT,D:100:46:11:11:80,2,10,8:2588,40,335,357:0.00,1.21,21.21,17.94:0.00,-0.23,7.61,6.94:0.00,1.44,13.60,11.00:0.00,0.00,0.98,0.00:0.00,0.00,0.96,0.00:0.00,0.00,1.00,0.00:60,60,60,60:15.9,123.5,23.7,22.1:0,0,1,3:0,0,0,0:113,68,100,81:35,60,45,70:30,68,25,27:-,NM_012214.2(MGAT4A) c.*1548dupA:-,NOT_FOUND:-,NOT_FOUND 2 99240502 . g . . NT END=99240751;NT GT ./. 2 99242056 . C . . NT END=99242185;NT GT ./. 2 99242299 . C . . NT END=99251684;NT GT ./. 2 99251752 . C . . NT END=99252979;NT GT ./. 2 99252750 rs72825727 G C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8319,C/0.1681;PC=0.030;Gene=MGAT4A/NM_001160154.1/0;CC=c.1017+230C>G;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.1401+230C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:40.2:0:0:26:124:17:NM_012214.2(MGAT4A) c.1401+230C>G,NM_012214.2(MGAT4A) c.1401+230C>G:0.15,0.15:NOT_FOUND,NOT_FOUND 2 99253059 . C . . NT END=99256270;NT GT ./. 2 99256465 . C . . NT END=99256583;NT GT ./. 2 99256692 . C . . NT END=99260385;NT GT ./. 2 99260517 . C . . NT END=99261890;NT GT ./. 2 99262006 . C . . NT END=99271907;NT GT ./. 2 99271712 rs7557647 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.492,C/0.508;Gene=MGAT4A/NM_001160154.1/0;CC=c.390+196A>G;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.774+196A>G;VC=Intron;DM=MGAT4A/Glyco_transf_54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:6:6:0:0:4,2:127,69:12.95,0.00:12.95,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:32.2,0.0:0,0:0,0:37,63:114,87:18,26:NM_012214.2(MGAT4A) c.774+196A>G,-:0.48,-:NOT_FOUND,- 2 99271984 . C . . NT END=99272814;NT GT ./. 2 99272057 rs3754870 T C 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3341,C/0.6659;Gene=MGAT4A/NM_001160154.1/0;CC=c.315-74A>G;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.699-74A>G;VC=Intron;DM=MGAT4A/Glyco_transf_54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:7:0:0:13:413:47.50:17.55:29.95:1.00:1.00:1.00:60:37.9:0:0:131:19:12:NM_012214.2(MGAT4A) c.699-74A>G,NM_012214.2(MGAT4A) c.699-74A>G:0.62,0.62:NOT_FOUND,NOT_FOUND 2 99272929 . C . . NT END=99274680;NT GT ./. 2 99274418 rs6750281 A G 6 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4,G/0.6;PC=0.001;Gene=MGAT4A/NM_001160154.1/0;CC=c.200+263T>C;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.584+263T>C;VC=Intron;DM=MGAT4A/Glyco_transf_54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:4:4:0:0:2,2:60,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:19.0,33.5:0,0:0,0:46,57:104,93:18,8:-,NM_012214.2(MGAT4A) c.584+263T>C:-,0.55:-,NOT_FOUND 2 99274653 rs2271670 T C 129 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.3413,C/0.6587;Gene=MGAT4A/NM_001160154.1/0;CC=c.200+28A>G;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.584+28A>G;VC=Intron;DM=MGAT4A/Glyco_transf_54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:31:0:0:34:1129:129.08:87.85:41.23:1.00:1.00:1.00:60:34.8:0:0:58:90:29:NM_012214.2(MGAT4A) c.584+28A>G,NM_012214.2(MGAT4A) c.584+28A>G:0.61,0.61:0.57251,0.57251 2 99274728 . C . . NT END=99279508;NT GT ./. 2 99279354 rs1028144 A G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3259,G/0.6741;PC=0.001;Gene=MGAT4A/NM_001160154.1/0;CC=c.153+155T>C;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.537+155T>C;VC=Intron;DM=MGAT4A/Glyco_transf_54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:274:31.69:31.69:0.00:1.00:1.00:0.00:60:31.6:0:0:94:57:35:NM_012214.2(MGAT4A) c.537+155T>C,NM_012214.2(MGAT4A) c.537+155T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 99279643 . C . . NT END=99279803;NT GT ./. 2 99279646 rs551837503 GA G 9 rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=GA/0.9942,G/0.005791;NP=28;PC=1.000;Gene=MGAT4A/NM_001160154.1/0;CC=c.20-5delT;VC=Intron;Gene=MGAT4A/NM_012214.2/1;CC=c.404-5delT;VC=Intron;DM=MGAT4A/Glyco_transf_54;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,GA,I,G:50:35:2:4:1,43,2,4:12,1340,61,132:-0.10,0.00,3.50,9.17:0.05,0.00,3.82,4.66:-0.16,0.00,-0.32,4.51:0.00,0.00,0.00,0.55:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.76:60,60,60,60:124.0,1.9,0.0,0.0:0,0,0,0:0,0,0,0:137,86,33,90:14,65,117,60:0,31,3,20:-,NM_012214.2(MGAT4A) c.404-5delT:-,NOT_FOUND:-,0.013204 2 99279937 . A . . NT END=99291497;NT GT ./. 2 99291639 . C . . NT END=99294766;NT GT ./. 2 99294696 . GA G 10 rn VT=DEL;SST=Single;DP=15;PC=0.020;Gene=MGAT4A/NM_012214.2/1;CC=c.262+70delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,GA,G:15:14:0:4:1,10,4:33,328,118:2.30,0.00,10.07:-0.29,0.00,10.14:2.59,0.00,-0.07:0.00,0.00,0.76:0.00,0.00,0.97:0.00,0.00,0.55:60,60,60:55.0,33.5,15.5:1,0,0:0,0,0:49,81,78:76,69,68:0,19,17:-,NM_012214.2(MGAT4A) c.262+70delT:-,NOT_FOUND:-,NOT_FOUND 2 99294712 rs67023324 A T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=MGAT4A/NM_012214.2/1;CC=c.262+55T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,T,I:18:18:3:0:12,5,1:399,164,75:0.00,14.28,1.71:0.00,14.59,1.77:0.00,-0.31,-0.06:0.00,0.85,0.00:0.00,0.98,0.00:0.00,0.75,0.00:60,60,60:15.8,67.8,95.0:1,0,2:0,0,0:73,65,38:65,86,89:38,42,11:-,NM_012214.2(MGAT4A) c.262+55T>A:-,0.26:-,NOT_FOUND 2 99294935 . C . . NT END=99342701;NT GT ./. 2 99342796 . C . . NT END=99410994;NT GT ./. 2 99411138 . C . . NT END=99412582;NT GT ./. 2 99411243 rs114066235 C T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.975,T/0.02496;Gene=KIAA1211L/NM_207362.2/1;CC=c.2750-109G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:5:0:0:16,17:457,524:0.00,50.55:0.00,2.80:0.00,47.75:0.00,1.00:0.00,0.97:0.00,1.00:60,60:17.8,38.5:0,0:0,0:117,103:33,46:26,16:-,NM_207362.2(KIAA1211L) c.2750-109G>A:-,0.03:-,NOT_FOUND 2 99412728 . C . . NT END=99413812;NT GT ./. 2 99414001 . C . . NT END=99438319;NT GT ./. 2 99438345 rs60496162 C T 296 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=196;DB;DBA=NA;PAF=C/0.9601,T/0.03994;PC=0.989;Gene=KIAA1211L/NM_207362.2/1;CC=c.2391G>A;ProtCh=p.E797=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:196:152:0:0:101,95:3412,3096:0.00,295.97:0.00,176.76:0.00,119.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,42.8:1,0:0,0:76,70:70,69:24,31:-,NM_207362.2(KIAA1211L) c.2391G>A (p.(=)):-,0.04:-,0.01721 2 99438521 rs61042973 T C 215 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=T/0.9551,C/0.04493;Gene=KIAA1211L/NM_207362.2/1;CC=c.2215A>G;ProtCh=p.T739A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:162:97:0:0:73,2,87:2284,19,2723:215.24,-0.25,0.00:94.36,0.01,0.00:120.87,-0.25,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,105.0,11.6:0,0,0:0,0,0:92,108,67:55,29,84:33,17,38:NM_207362.2(KIAA1211L) c.2215A>G (p.Thr739Ala),-:0.04,-:0.019936,- 2 99439603 rs149622421 G A 222 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=158;DB;DBA=NA;PAF=G/0.9748,A/0.02516,C/.;Gene=KIAA1211L/NM_207362.2/1;CC=c.1133C>T;ProtCh=p.A378V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:158:89:0:0:77,1,80:2326,9,2590:221.96,-0.16,0.00:99.34,-0.03,0.00:122.62,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.4,88.0,16.2:0,0,1:0,0,0:93,126,96:57,25,48:28,0,32:NM_207362.2(KIAA1211L) c.1133C>T (p.Ala378Val),-:0.03,-:0.02689,- 2 99439792 rs3731660 G C 276 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=196;DB;DBA=NA;PAF=G/0.9541,C/0.04593;PC=0.033;Gene=KIAA1211L/NM_207362.2/1;CC=c.944C>G;ProtCh=p.S315C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:196:146:0:0:86,110:2935,3471:276.17,0.00:146.24,0.00:129.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,6.9:0,0:0,0:65,51:79,99:37,31:NM_207362.2(KIAA1211L) c.944C>G (p.Ser315Cys),-:0.04,-:NOT_FOUND,- 2 99440001 . C . . NT END=99443437;NT GT ./. 2 99443221 rs146650543 G C 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.975,C/0.02496;Gene=KIAA1211L/NM_207362.2/1;CC=c.735+217C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,G:6:6:0:0:4,2:113,38:11.55,0.00:11.55,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:62.8,53.0:0,0:0,0:48,138:103,12:26,8:NM_207362.2(KIAA1211L) c.735+217C>G,-:0.03,-:NOT_FOUND,- 2 99443299 rs141582519 C A 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.975,A/0.02496;Gene=KIAA1211L/NM_207362.2/1;CC=c.735+139G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:15:15:0:0:7,8:224,253:21.25,0.00:21.25,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:71.0,11.9:0,0:0,0:29,40:121,110:21,19:NM_207362.2(KIAA1211L) c.735+139G>T,-:0.03,-:NOT_FOUND,- 2 99443369 rs145952135 TG T 47 rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=68;Gene=KIAA1211L/NM_207362.2/1;CC=c.735+68delC;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:37:38:0:18:20,17:543,537:0.00,47.37:0.00,47.50:0.00,-0.13:0.00,1.00:0.00,1.00:0.00,0.63:60,70:48.9,14.7:0,1:0,0:28,57:121,93:17,34:-,NM_207362.2(KIAA1211L) c.735+68delC:-,NOT_FOUND:-,NOT_FOUND 2 99443371 rs182007497 G T 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.975,T/0.02496;Gene=KIAA1211L/NM_207362.2/1;CC=c.735+67C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:36:36:0:1:17,19:539,557:0.00,53.94:0.00,52.25:0.00,1.69:0.00,1.00:0.00,1.00:0.00,0.81:70,60:14.7,51.6:0,0:0,0:57,30:93,120:35,17:-,NM_207362.2(KIAA1211L) c.735+67C>A:-,0.03:-,NOT_FOUND 2 99443633 . C . . NT END=99448810;NT GT ./. 2 99448976 . C . . NT END=99449324;NT GT ./. 2 99449174 rs2280256 C T 138 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.5254,T/0.4746;Gene=KIAA1211L/NM_207362.2/1;CC=c.375+151G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:30:0:0:38:1198:137.88:110.80:27.09:1.00:1.00:1.00:60:39.7:0:0:56:94:38:NM_207362.2(KIAA1211L) c.375+151G>A,NM_207362.2(KIAA1211L) c.375+151G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 99449461 . C . . NT END=99454581;NT GT ./. 2 99449536 rs6711022 A G 316 nt VT=SNV;PN=G;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.525,G/0.475;Gene=KIAA1211L/NM_207362.2/1;CC=c.240-76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:89:30:0:0:1,88:29,2767:0.00,316.23:0.00,68.98:0.00,247.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.0,53.0:0,0:0,0:37,108:114,42:0,29:NM_207362.2(KIAA1211L) c.240-76T>C,NM_207362.2(KIAA1211L) c.240-76T>C:0.45,0.45:NOT_FOUND,NOT_FOUND 2 99449621 rs72811007 G A 138 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.8379,A/0.1621;Gene=KIAA1211L/NM_207362.2/1;CC=c.240-161C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A,G:44:0:0:0:42,2:1216,43:138.31,0.00:0.00,0.00:138.31,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:63.7,17.0:0,0:0,0:113,70:37,78:25,51:NM_207362.2(KIAA1211L) c.240-161C>T,NM_207362.2(KIAA1211L) c.240-161C>T:0.11,0.11:NOT_FOUND,NOT_FOUND 2 99454751 . C . . NT END=99463193;NT GT ./. 2 99463274 . C . . NT END=99485540;NT GT ./. 2 99485421 rs4851165 C T 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.8185,T/0.1815;Gene=KIAA1211L/NM_207362.2/1;CC=c.-10-22148G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:26:0:0:11,15:357,415:0.00,40.84:0.00,40.84:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.9,54.5:0,0:0,0:38,53:111,98:13,43:-,NM_207362.2(KIAA1211L) c.-10-22148G>A:-,0.16:-,NOT_FOUND 2 99485777 . C . . NT END=99513839;NT GT ./. 2 99513872 . C . . NT END=99614659;NT GT ./. 2 99575497 rs369713814 C T 10 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6324,T/0.3676;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:3:0:0:2,3:70,98:0.00,9.77:0.00,1.33:0.00,8.44:0.00,0.78:0.00,0.94:0.00,0.78:60,60:0.0,64.0:0,0:0,0:59,140:91,11:33,6:-,chr2 g.99575496C>T (intergenic):-,0.34:-,NOT_FOUND 2 99614595 . CA C 12 idl,rn VT=DEL;SST=Single;DP=36;NP=106;PC=0.996;Gene=TSGA10/NM_182911.3/0;CC=c.*64delT;VC=3UTR;Gene=TSGA10/NM_025244.2/1;CC=c.*64delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,CA,G,I,C:34:32:3:7:1,25,1,2,5:10,811,15,95,191:-0.07,0.00,0.24,4.03,12.48:-0.25,0.00,-0.25,4.15,12.81:0.18,0.00,0.49,-0.12,-0.32:0.00,0.00,0.00,0.00,0.78:0.00,0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.00,0.71:60,60,60,60,60:32.0,5.3,15.0,18.5,4.0:0,0,0,1,1:0,0,0,0,0:22,50,7,35,53:129,95,143,116,97:0,32,0,27,14:-,NM_025244.2(TSGA10) c.*52T[12]:-,NOT_FOUND:-,NOT_FOUND 2 99614685 . C . . NT END=99634662;NT GT ./. 2 99634813 . C . . NT END=99634998;NT GT ./. 2 99635104 . C . . NT END=99636742;NT GT ./. 2 99636946 . C . . NT END=99651692;NT GT ./. 2 99651903 . C . . NT END=99681401;NT GT ./. 2 99681588 . C . . NT END=99685350;NT GT ./. 2 99685462 . C . . NT END=99688168;NT GT ./. 2 99688338 . C . . NT END=99689480;NT GT ./. 2 99689537 . C . . NT END=99695121;NT GT ./. 2 99690814 rs147220063 C CGTGTGTGTGTGTGT 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=14;NP=4;Gene=TSGA10/NM_182911.3/0;CC=c.883-1279_883-1278insACACACACACACAC;VC=Intron;Gene=TSGA10/NM_025244.2/1;CC=c.883-1279_883-1278insACACACACACACAC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,CGTGTGTGTGTGTGT:7:5:3:0:4,3:109,95:0.00,8.86:0.00,4.21:0.00,4.65:0.00,0.69:0.00,0.93:0.00,0.89:60,60:12.5,9.0:0,0:0,0:97,78:25,73:19,1:-,NM_025244.2(TSGA10) c.883-1279_883-1278insACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 99695097 rs62156364 A G 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.8227,G/0.1773;PC=0.904;Gene=TSGA10/NM_182911.3/0;CC=c.882+25T>C;VC=Intron;Gene=TSGA10/NM_025244.2/1;CC=c.882+25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:53:0:0:30,28:972,867:0.00,82.53:0.00,67.82:0.00,14.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,41.9:0,0:0,0:38,61:103,85:22,30:-,NM_025244.2(TSGA10) c.882+25T>C:-,0.2:-,0.228468 2 99695277 . C . . NT END=99697744;NT GT ./. 2 99697861 . C . . NT END=99720429;NT GT ./. 2 99719230 rs11683472 T C 107 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.007788,C/0.9922;PC=0.010;Gene=TSGA10/NM_182911.3/0;CC=c.611+1200A>G;VC=Intron;Gene=TSGA10/NM_025244.2/1;CC=c.611+1200A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:10:0:0:30:932:107.34:23.31:84.03:1.00:1.00:1.00:60:37.5:0:0:96:48:23:NM_025244.2(TSGA10) c.611+1200A>G,NM_025244.2(TSGA10) c.611+1200A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 99720582 . C . . NT END=99721821;NT GT ./. 2 99721804 . CTT C 37 idl,rn VT=DEL;SST=Single;DP=58;NP=1;PC=0.985;Gene=TSGA10/NM_182911.3/0;CC=c.459+16_459+17delAA;VC=Intron;Gene=TSGA10/NM_025244.2/1;CC=c.459+16_459+17delAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,I,C:51:50:7:20:31,7,13:1001,204,647:0.00,15.60,37.25:0.00,6.23,30.86:0.00,9.37,6.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:47.2,30.4,24.7:0,0,7:0,0,0:46,53,53:104,98,98:34,29,19:-,NM_025244.2(TSGA10) c.459+16_459+17delAA:-,NOT_FOUND:-,NOT_FOUND 2 99721900 . C . . NT END=99721989;NT GT ./. 2 99722161 . C . . NT END=99725295;NT GT ./. 2 99725455 . C . . NT END=99725851;NT GT ./. 2 99725714 . A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;PC=0.002;Gene=TSGA10/NM_182911.3/0;CC=c.51+138T>C;VC=Intron;Gene=TSGA10/NM_025244.2/1;CC=c.51+138T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:11:10:0:0:8,3:253,99:0.00,8.53:0.00,8.67:0.00,-0.14:0.00,0.60:0.00,0.93:0.00,0.52:60,60:8.8,33.0:0,0:0,0:87,28:63,122:27,13:-,NM_025244.2(TSGA10) c.51+138T>C:-,NOT_FOUND:-,NOT_FOUND 2 99726020 . C . . NT END=99727312;NT GT ./. 2 99726043 rs6733624 A G 170 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=2745;PC=0.148;Gene=TSGA10/NM_182911.3/0;CC=c.-73-68T>C;VC=Intron;Gene=TSGA10/NM_025244.2/1;CC=c.-73-68T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:17:0:0:45:1487:170.07:39.75:130.32:1.00:1.00:1.00:60:37.6:0:0:103:42:23:NM_025244.2(TSGA10) c.-73-68T>C,NM_025244.2(TSGA10) c.-73-68T>C:1,1:NOT_FOUND,NOT_FOUND 2 99727379 . C . . NT END=99734006;NT GT ./. 2 99734223 . C . . NT END=99735013;NT GT ./. 2 99734913 rs34057808 CA C 7 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CA/0.5168,C/0.4832;NP=3;PC=0.047;Gene=TSGA10/NM_182911.3/0;CC=c.-355-692delT;VC=Intron;Gene=TSGA10/NM_025244.2/1;CC=c.-356+100delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CA,I,C:13:13:1:3:9,1,3:259,30,89:0.00,2.05,7.40:0.00,2.05,7.40:0.00,0.00,0.00:0.00,0.00,0.58:0.00,0.00,0.58:0.00,0.00,0.00:60,60,60:22.9,46.0,36.3:0,0,0:0,0,0:105,5,73:45,145,78:42,0,19:-,NM_025244.2(TSGA10) c.-356+100delT:-,NOT_FOUND:-,NOT_FOUND 2 99735150 . C . . NT END=99743510;NT GT ./. 2 99743640 . C . . NT END=99757545;NT GT ./. 2 99757603 . C . . NT END=99763930;NT GT ./. 2 99763765 rs562626854 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1;Gene=TSGA10/NM_025244.2/1;CC=c.-621+7391G>A;VC=Intron;Gene=C2orf15/NM_144706.2/1;CC=c.-66-100C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:9,7:315,224:0.00,20.98:0.00,20.98:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.0,34.7:0,0:0,0:72,44:79,107:27,17:-,NM_025244.2(TSGA10) c.-621+7391G>A:-,NOT_FOUND:-,NOT_FOUND 2 99763957 . G . . NT END=99766945;NT GT ./. 2 99766927 rs200382110 C CT 18 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=6;Gene=TSGA10/NM_025244.2/1;CC=c.-621+4228dupA;VC=Intron;Gene=C2orf15/NM_144706.2/1;CC=c.27-4dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,CT,D:31:30:7:4:21,7,3:697,218,114:0.00,18.27,5.46:0.00,15.89,3.80:0.00,2.38,1.66:0.00,0.95,0.00:0.00,1.00,0.00:0.00,0.92,0.00:60,60,60:29.8,18.1,36.7:0,0,1:0,0,0:71,43,54:77,108,96:32,36,32:-,NM_144706.2(C2orf15) c.27-19_27-18insT:-,NOT_FOUND:-,NOT_FOUND 2 99767298 . A . . NT END=99778420;NT GT ./. 2 99779543 . T . . NT END=99785869;NT GT ./. 2 99785934 . C . . NT END=99786012;NT GT ./. 2 99786074 . C . . NT END=99786999;NT GT ./. 2 99787116 . C . . NT END=99787800;NT GT ./. 2 99787134 rs143506893 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=14;Gene=MITD1/NM_138798.1/1;CC=c.478-19G>A;VC=Intron;DM=MITD1/MIT_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:13:0:0:11,16:355,512:0.00,50.87:0.00,12.67:0.00,38.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.8,34.4:0,0:0,0:112,102:31,48:19,39:-,NM_138798.1(MITD1) c.478-19G>A:-,0.0014:-,0.00246 2 99787893 . C . . NT END=99787971;NT GT ./. 2 99788110 . C . . NT END=99790376;NT GT ./. 2 99790480 . C . . NT END=99797292;NT GT ./. 2 99797519 . T . . NT END=99802666;NT GT ./. 2 99802718 . G . . NT END=99804639;NT GT ./. 2 99804642 rs17851998 T C 41 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.1745,C/0.8255;DB;DBA=NA;PAF=NA;Gene=MRPL30/NM_145212.3/1;CC=c.54T>C;ProtCh=p.T18=;VC=Silent;Gene=MRPL30/NR_028356.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:27:0:0:14,16:434,558:41.07,0.00:28.40,0.00:12.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.6,7.2:0,0:0,0:21,44:129,104:13,23:NM_145212.3(MRPL30) c.54T>C (p.(=)),-:0.87,-:0.834692,- 2 99804721 . G . . NT END=99811213;NT GT ./. 2 99811361 . G . . NT END=99811578;NT GT ./. 2 99811653 . G . . NT END=99812035;NT GT ./. 2 99812169 . T . . NT END=99858826;NT GT ./. 2 99858946 . C . . NT END=99860461;NT GT ./. 2 99860601 . C . . NT END=99861724;NT GT ./. 2 99861530 rs1968916 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7991,T/0.2009;Gene=LYG2/NM_175735.3/1;CC=c.381+195G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,T:16:15:0:0:6,10:173,305:0.00,30.65:0.00,26.88:0.00,3.77:0.00,1.00:0.00,1.00:0.00,0.75:60,60:13.5,42.8:0,0:0,0:36,85:115,60:31,26:-,NM_175735.3(LYG2) c.381+195G>A:-,0.22:-,NOT_FOUND 2 99861574 . C CA 20 idl,rn VT=INS;SST=Single;DP=25;NP=2;Gene=LYG2/NM_175735.3/1;CC=c.381+150_381+151insT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:C,CA,D:23:24:7:6:12,7,4:378,227,188:0.00,20.46,10.12:0.00,20.60,10.20:0.00,-0.14,-0.08:0.00,0.96,0.00:0.00,1.00,0.00:0.00,0.52,0.00:60,60,60:30.6,18.9,40.2:0,0,2:0,0,0:110,27,36:37,124,115:35,11,18:-,NM_175735.3(LYG2) c.381+150_381+151insT:-,NOT_FOUND:-,NOT_FOUND 2 99861922 . C . . NT END=99863142;NT GT ./. 2 99863284 . C . . NT END=99870680;NT GT ./. 2 99870724 . G . . NT END=99900855;NT GT ./. 2 99900975 . C . . NT END=99901150;NT GT ./. 2 99901284 . C . . NT END=99907699;NT GT ./. 2 99907885 . C . . NT END=99908998;NT GT ./. 2 99909104 . C . . NT END=99912090;NT GT ./. 2 99912134 . G . . NT END=99936144;NT GT ./. 2 99936263 . C . . NT END=99938417;NT GT ./. 2 99938673 . C . . NT END=99943997;NT GT ./. 2 99944117 . C . . NT END=99949484;NT GT ./. 2 99949706 . C . . NT END=99952701;NT GT ./. 2 99952861 . A . . NT END=99954017;NT GT ./. 2 99954053 . G . . NT END=99954779;NT GT ./. 2 99954608 rs11893359 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7913,G/0.2087;PC=0.161;Gene=EIF5B/NM_015904.3/1;CC=c.35+556A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,G:10:10:0:0:6,4:209,114:0.00,10.38:0.00,10.38:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:2.0,33.5:0,0:0,0:45,46:105,104:7,4:-,NM_015904.3(EIF5B) c.35+556A>G:-,0.23:-,NOT_FOUND 2 99954636 rs11326784 GT G 17 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=GT/0.1799,G/0.8201;NP=9;PC=0.497;Gene=EIF5B/NM_015904.3/1;CC=c.35+593delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:GT,G:13:13:0:6:7,6:225,184:0.00,17.37:0.00,17.37:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:1.7,22.3:0,0:0,0:71,56:80,94:10,22:-,NM_015904.3(EIF5B) c.35+585delT:-,NOT_FOUND:-,NOT_FOUND 2 99954799 . T . . NT END=99976698;NT GT ./. 2 99976564 rs3828162 A G 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.1601,G/0.8399;Gene=EIF5B/NM_015904.3/1;CC=c.36-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:32:0:0:19,14:598,431:0.00,39.97:0.00,38.35:0.00,1.61:0.00,1.00:0.00,1.00:0.00,0.72:60,60:0.9,32.6:0,0:0,0:72,60:78,89:43,44:-,NM_015904.3(EIF5B) c.36-135A>G:-,0.88:-,NOT_FOUND 2 99976825 . G . . NT END=99976927;NT GT ./. 2 99977013 . G . . NT END=99977610;NT GT ./. 2 99977221 rs6726711 T A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1723,A/0.8277;Gene=EIF5B/NM_015904.3/1;CC=c.246+209T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,T:10:2:0:0:5,5:155,143:14.88,0.00:3.18,0.00:11.70,0.00:0.95,0.00:0.79,0.00:0.87,0.00:60,60:31.0,15.2:0,0:0,0:119,129:31,21:16,12:NM_015904.3(EIF5B) c.246+209T>A,-:0.86,-:NOT_FOUND,- 2 99978284 . G . . NT END=99980107;NT GT ./. 2 99980326 . G . . NT END=99980733;NT GT ./. 2 99980885 . G . . NT END=99984955;NT GT ./. 2 99985055 . G . . NT END=99985854;NT GT ./. 2 99985945 . G . . NT END=99988118;NT GT ./. 2 99987951 rs201222383 CA C 12 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CA/0.5841,C/0.4159;NP=21;PC=0.076;Gene=EIF5B/NM_015904.3/1;CC=c.1478-151delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:CA,I,C:9:9:1:4:4,1,4:137,33,129:0.00,2.62,12.38:0.00,2.62,12.38:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,60:2.2,0.0,6.0:0,0,0:0,0,0:35,25,67:115,126,83:22,0,13:-,NM_015904.3(EIF5B) c.1478-167delA:-,NOT_FOUND:-,NOT_FOUND 2 99988194 . G . . NT END=99992809;NT GT ./. 2 99988453 rs11320097 CA C 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CA/0.4105,C/0.5895;NP=262;PC=0.001;Gene=EIF5B/NM_015904.3/1;CC=c.1552+264delA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:116:13.50:0.00:13.50:1.00:0.00:1.00:60:31.8:0:0:66:84:32:NM_015904.3(EIF5B) c.1552+261delA,NM_015904.3(EIF5B) c.1552+261delA:0.59,0.59:NOT_FOUND,NOT_FOUND 2 99992784 rs7558062 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5921,G/0.4079;PC=0.976;Gene=EIF5B/NM_015904.3/1;CC=c.1553-26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:22:0:0:14,8:426,268:0.00,24.36:0.00,19.60:0.00,4.77:0.00,0.99:0.00,0.99:0.00,0.96:60,60:26.2,75.6:0,0:0,0:55,34:85,116:32,3:-,NM_015904.3(EIF5B) c.1553-26A>G:-,0.44:-,NOT_FOUND 2 99992822 rs7558074 A C 94 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4081,C/0.5919,G/.,T/.;PC=0.992;Gene=EIF5B/NM_015904.3/1;CC=c.1565A>C;ProtCh=p.K522T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C,T:26:22:0:0:25,1:828,8:94.30,0.20:67.10,0.20:27.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.2,90.0:0,0:0,0:69,93:79,57:28,0:NM_015904.3(EIF5B) c.1565A>C (p.Lys522Thr),NM_015904.3(EIF5B) c.1565A>C (p.Lys522Thr):0.59,0.59:0.628784,0.628784 2 99993100 . G . . NT END=99995481;NT GT ./. 2 99993176 rs10179343 G A 79 nt VT=SNV;PN=G;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.8341,A/0.1659;Gene=EIF5B/NM_015904.3/1;CC=c.1842+77G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:18:0:0:28,26:816,891:78.66,0.00:19.08,0.00:59.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,4.0:0,0:0,0:108,91:41,55:24,36:NM_015904.3(EIF5B) c.1842+77G>A,-:0.13,-:NOT_FOUND,- 2 99995458 rs200706463 AT A 27 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=AT/0.4994,A/0.5006;NP=310;PC=0.173;Gene=EIF5B/NM_015904.3/1;CC=c.1843-9delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:31:30:2:15:19,2,10:619,67,430:0.00,4.68,26.75:0.00,2.14,15.90:0.00,2.54,10.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:23.7,84.0,47.2:0,0,4:0,0,0:43,62,48:89,87,93:25,2,33:-,NM_015904.3(EIF5B) c.1843-23delT:-,NOT_FOUND:-,NOT_FOUND 2 99995517 rs11896520 C T 60 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.8486,G/.,T/0.1514;PC=1.000;Gene=EIF5B/NM_015904.3/1;CC=c.1878C>T;ProtCh=p.T626=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:35:0:0:33,20:941,652:0.00,59.52:0.00,33.98:0.00,25.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.9,40.5:0,0:0,0:77,55:69,87:26,27:-,NM_015904.3(EIF5B) c.1878C>T (p.(=)):-,0.18:-,0.219634 2 99995590 . G . . NT END=99995780;NT GT ./. 2 99995804 rs1376443 T C 220 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.3962,C/0.6038;PC=0.970;Gene=EIF5B/NM_015904.3/1;CC=c.1974T>C;ProtCh=p.D658=;VC=Silent;DM=EIF5B/GTP_EFTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:59:43:0:0:59:1915:219.59:113.07:106.52:1.00:1.00:1.00:60:37.4:0:0:74:68:41:NM_015904.3(EIF5B) c.1974T>C (p.(=)),NM_015904.3(EIF5B) c.1974T>C (p.(=)):0.59,0.59:0.628378,0.628378 2 99995892 . G . . NT END=99998621;NT GT ./. 2 99997981 rs6721297 G T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=EIF5B/NM_015904.3/1;CC=c.2062-641G>T;VC=Intron;DM=EIF5B/GTP_EFTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:1:4:135:15.41:9.54:5.87:1.00:1.00:1.00:60:53.2:0:0:41:78:13:NM_015904.3(EIF5B) c.2062-641G>T,NM_015904.3(EIF5B) c.2062-641G>T:0.5,0.5:NOT_FOUND,NOT_FOUND 2 99998561 rs2290256 C T 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4101,T/0.5899;PC=0.165;Gene=EIF5B/NM_015904.3/1;CC=c.2062-61C>T;VC=Intron;DM=EIF5B/GTP_EFTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:18:0:0:20:648:74.34:61.82:12.52:1.00:1.00:1.00:60:34.6:0:0:47:103:32:NM_015904.3(EIF5B) c.2062-61C>T,NM_015904.3(EIF5B) c.2062-61C>T:0.59,0.59:0.603592,0.603592 2 99998690 . G . . NT END=99999242;NT GT ./. 2 99999097 rs2290255 C A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5917,A/0.4083;Gene=EIF5B/NM_015904.3/1;CC=c.2130-146C>A;VC=Intron;DM=EIF5B/GTP_EFTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,C:11:10:0:0:5,6:156,197:14.69,0.00:14.96,0.00:-0.26,0.00:0.93,0.00:0.99,0.00:0.64,0.00:60,60:42.8,3.3:0,0:0,0:121,50:30,101:26,33:NM_015904.3(EIF5B) c.2130-146C>A,-:0.44,-:NOT_FOUND,- 2 99999385 . G . . NT END=100006180;NT GT ./. 2 99999483 rs148544035 TTATTGTGCTTCACTA T 25 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=TTATTGTGCTTCACTA/0.9894,T/0.01058;NP=62;Gene=EIF5B/NM_015904.3/1;CC=c.2271+113_2271+127delTATATTGTGCTTCAC;VC=Intron;DM=EIF5B/GTP_EFTU;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTATTGTGCTTCACTA,T:24:9:0:10:14,10:461,277:0.00,25.26:0.00,5.21:0.00,20.05:0.00,1.00:0.00,0.98:0.00,1.00:60,60:6.9,7.3:0,0:0,0:117,104:18,46:12,13:-,NM_015904.3(EIF5B) c.2271+100_2271+114delTATTGTGCTTCACTA:-,0.02:-,NOT_FOUND 2 99999517 rs374029826 T TTG 21 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.9722,TTG/0.02776;DB;DBA=NA;PAF=T/0.9722,TTG/0.02776;NP=89;PC=0.117;Gene=EIF5B/NM_015904.3/1;CC=c.2271+148_2271+149insGT;VC=Intron;DM=EIF5B/GTP_EFTU;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTG:23:4:8:0:15,8:456,241:0.00,21.46:0.00,2.59:0.00,18.87:0.00,0.99:0.00,0.82:0.00,1.00:60,60:20.7,15.0:4,7:0,0:115,100:36,50:29,23:-,NM_015904.3(EIF5B) c.2271+133_2271+134insTG:-,NOT_FOUND:-,NOT_FOUND 2 99999611 rs13401163 G A 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8277,A/0.1723;PC=0.001;Gene=EIF5B/NM_015904.3/1;CC=c.2271+227G>A;VC=Intron;DM=EIF5B/GTP_EFTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:A,G:10:0:0:0:6,4:203,133:20.24,0.00:0.00,0.00:20.24,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:35.7,30.0:0,0:0,0:84,103:67,46:28,0:NM_015904.3(EIF5B) c.2271+227G>A,-:0.14,-:NOT_FOUND,- 2 100006061 rs58524087 G GAGTA 64 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4097,GAGTA/0.5903;DB;DBA=NA;PAF=G/0.4097,GAGTA/0.5903;NP=940;PC=0.431;Gene=EIF5B/NM_015904.3/1;CC=c.2272-116_2272-113dupAAGT;VC=Intron;DM=EIF5B/GTP_EFTU;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:G,GAGTA:22:22:19:0:3,19:88,584:0.00,63.66:0.00,59.99:0.00,3.66:0.00,1.00:0.00,1.00:0.00,0.98:60,60:0.0,9.7:1,0:0,0:138,41:8,109:8,23:-,NM_015904.3(EIF5B) c.2272-120_2272-119insAGTA:-,0.58:-,NOT_FOUND 2 100006313 . G . . NT END=100006681;NT GT ./. 2 100006620 rs10187843 G T 189 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.4099,T/0.5901;Gene=EIF5B/NM_015904.3/1;CC=c.2404-62G>T;VC=Intron;DM=EIF5B/GTP_EFTU GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:T:58:46:0:0:58:1615:188.85:133.64:55.22:1.00:1.00:1.00:60:42.6:0:0:40:110:21:NM_015904.3(EIF5B) c.2404-62G>T,NM_015904.3(EIF5B) c.2404-62G>T:0.59,0.59:NOT_FOUND,NOT_FOUND 2 100006865 . G . . NT END=100007006;NT GT ./. 2 100006890 rs573404864 G GT 38 idl,rn VT=INS;SST=Single;DP=82;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=139;Gene=EIF5B/NM_015904.3/1;CC=c.2586+40_2586+41insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:76:48:21:1:60,15,1:1861,659,32:0.00,38.25,1.45:0.00,27.42,1.61:0.00,10.83,-0.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:23.5,18.9,25.0:1,6,0:0,0,0:110,66,28:35,83,123:31,32,0:-,NM_015904.3(EIF5B) c.2586+26_2586+27insT:-,NOT_FOUND:-,NOT_FOUND 2 100006904 rs74906568 T TA 59 idl,nt VT=INS;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.8353,TA/0.1522;DB;DBA=NA;PAF=T/0.8353,TA/0.1522,TAA/.,TT/.,TTA/0.01258,TTTA/.;DB;DBA=NA;PAF=NA;NP=11;NP=2;NP=273;NP=3;NP=5;Gene=EIF5B/NM_015904.3/1;CC=c.2586+45_2586+46insA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:72:48:24:0:7,43,22:194,1325,731:13.82,0.00,59.33:9.08,0.00,37.46:4.73,0.00,21.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.6,21.1,26.2:0,1,2:0,0,0:15,83,90:135,61,60:13,46,32:-,NM_015904.3(EIF5B) c.2586+40_2586+41insA:-,NOT_FOUND:-,NOT_FOUND 2 100007169 . G . . NT END=100009429;NT GT ./. 2 100007403 rs7574135 A T 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4097,T/0.5903;PC=0.008;Gene=EIF5B/NM_015904.3/1;CC=c.2748+235A>T;VC=Intron;DM=EIF5B/GTP_EFTU_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:160:18.38:0.00:18.38:1.00:0.00:1.00:60:35.8:0:0:128:23:11:NM_015904.3(EIF5B) c.2748+235A>T,NM_015904.3(EIF5B) c.2748+235A>T:0.59,0.59:NOT_FOUND,NOT_FOUND 2 100009562 . G . . NT END=100010729;NT GT ./. 2 100010862 . G . . NT END=100010971;NT GT ./. 2 100011049 . G . . NT END=100011181;NT GT ./. 2 100011347 . G . . NT END=100013222;NT GT ./. 2 100013362 . G . . NT END=100015210;NT GT ./. 2 100015124 rs2305352 C G 78 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7911,G/0.2089;Gene=EIF5B/NM_015904.3/1;CC=c.3394-87C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:42:37:0:0:18,24:584,789:0.00,77.87:0.00,68.86:0.00,9.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,36.2:0,0:0,0:36,68:114,82:27,36:-,NM_015904.3(EIF5B) c.3394-87C>G:-,0.23:-,NOT_FOUND 2 100015373 . G . . NT END=100015769;NT GT ./. 2 100015878 . T . . NT END=100017703;NT GT ./. 2 100017816 . C . . NT END=100018706;NT GT ./. 2 100017906 rs528664310 C A 8 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;NP=6;PC=0.001;Gene=REV1/NM_001037872.1/0;CC=c.3642-91G>T;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.3645-91G>T;VC=Intron;DM=REV1/REV1_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,C,G,I,D:18:2:7:3:3,9,1,3,2:99,206,13,209,98:8.13,0.00,0.36,7.74,4.98:-0.09,0.00,-0.03,-0.09,-0.06:8.22,0.00,0.39,7.82,5.04:0.47,0.00,0.00,0.00,0.00:0.37,0.00,0.00,0.00,0.00:0.89,0.00,0.00,0.00,0.00:60,60,60,60,60:85.7,26.3,116.0,112.3,6.0:3,0,0,4,1:0,0,0,0,0:121,118,133,97,59:30,33,-21,54,92:9,32,0,24,17:NM_016316.2(REV1) c.3645-91G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 100018810 . C . . NT END=100019106;NT GT ./. 2 100019264 . C . . NT END=100019351;NT GT ./. 2 100019496 rs2305354 A G 291 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.4113,G/0.5887;PC=0.992;Gene=REV1/NM_001037872.1/0;CC=c.3237T>C;ProtCh=p.I1079=;VC=Silent;Gene=REV1/NM_016316.2/1;CC=c.3240T>C;ProtCh=p.I1080=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:43:0:0:76:2544:290.64:105.15:185.49:1.00:1.00:1.00:60:37.2:0:0:69:75:38:NM_016316.2(REV1) c.3240T>C (p.(=)),NM_016316.2(REV1) c.3240T>C (p.(=)):0.59,0.59:0.613179,0.613179 2 100019570 . C . . NT END=100020156;NT GT ./. 2 100019612 rs397839515 TG T 60 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=TG/0.6038,T/0.3962;DB;DBA=NA;PAF=TG/0.6038,T/0.3962;NP=1061;PC=0.003;Gene=REV1/NM_001037872.1/0;CC=c.3164-44delC;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.3167-44delC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:36:10:0:19:17,19:532,619:0.00,60.17:0.00,3.95:0.00,56.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,16.2:0,0:0,0:121,102:29,46:20,26:-,NM_016316.2(REV1) c.3167-44delC:-,0.43:-,0.412878 2 100020279 . C . . NT END=100020905;NT GT ./. 2 100021141 . C . . NT END=100022370;NT GT ./. 2 100021184 rs2290261 A G 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.6034,G/0.3966;Gene=REV1/NM_001037872.1/0;CC=c.2809-44T>C;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.2812-44T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:9:0:0:18,21:594,618:0.00,60.06:0.00,5.73:0.00,54.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,42.6:0,0:0,0:108,105:41,39:29,28:-,NM_016316.2(REV1) c.2812-44T>C:-,0.43:-,0.413501 2 100022270 rs1053544 G A 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6036,A/0.3964;Gene=REV1/NM_001037872.1/0;CC=c.2808+102C>T;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.2811+102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:11,13:374,374:35.47,0.00:35.47,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.4,12.5:0,0:0,0:35,44:116,107:26,26:NM_016316.2(REV1) c.2811+102C>T,-:0.43,-:NOT_FOUND,- 2 100022569 . C . . NT END=100022786;NT GT ./. 2 100022617 rs13394927 G A 88 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.8083,A/0.1917;Gene=REV1/NM_001037872.1/0;CC=c.2612-49C>T;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.2615-49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:27:0:0:29,24:895,757:87.51,0.00:34.15,0.00:53.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,17.6:0,0:0,0:89,95:59,55:34,33:NM_016316.2(REV1) c.2615-49C>T,-:0.16,-:0.194594,- 2 100022772 rs717454 T C 94 nt VT=SNV;PN=A;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.6036,C/0.3964,G/.;Gene=REV1/NM_001037872.1/0;CC=c.2611+15A>G;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.2614+15A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:47:0:0:30,33:982,1059:93.57,0.00:47.14,0.00:46.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,5.4:0,0:0,0:63,64:77,77:21,39:NM_016316.2(REV1) c.2614+15A>G,-:0.43,-:0.413963,- 2 100022953 . C . . NT END=100024489;NT GT ./. 2 100024594 . C . . NT END=100027155;NT GT ./. 2 100026940 rs3749087 A G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6036,G/0.3964;Gene=REV1/NM_001037872.1/0;CC=c.2342+217T>C;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.2345+217T>C;VC=Intron;DM=REV1/IMS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:8:8:0:0:3,5:98,142:0.00,14.28:0.00,14.28:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,31.6:0,0:0,0:37,73:113,77:17,44:-,NM_016316.2(REV1) c.2345+217T>C:-,0.43:-,NOT_FOUND 2 100027330 . C . . NT END=100029191;NT GT ./. 2 100029106 rs2242037 T C 45 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4115,C/0.5885;Gene=REV1/NM_001037872.1/0;CC=c.2169+87A>G;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.2172+87A>G;VC=Intron;DM=REV1/IMS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:390:44.70:44.70:0.00:1.00:1.00:0.00:60:39.5:0:0:33:117:23:NM_016316.2(REV1) c.2172+87A>G,NM_016316.2(REV1) c.2172+87A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 100029414 . C . . NT END=100035288;NT GT ./. 2 100035410 . C . . NT END=100037959;NT GT ./. 2 100038116 . C . . NT END=100040612;NT GT ./. 2 100040743 . C . . NT END=100041234;NT GT ./. 2 100041362 . C . . NT END=100046300;NT GT ./. 2 100041647 rs3792151 A C 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8217,C/0.1783;PC=0.991;Gene=REV1/NM_001037872.1/0;CC=c.1545-905T>G;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.1548-905T>G;VC=Intron;DM=REV1/IMS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,C:4:0:0:0:1,3:34,100:0.00,10.45:0.00,0.00:0.00,10.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,37.7:0,0:0,0:40,83:111,68:0,38:-,NM_016316.2(REV1) c.1548-905T>G:-,0.15:-,NOT_FOUND 2 100046411 . C . . NT END=100048202;NT GT ./. 2 100048348 . G . . NT END=100050792;NT GT ./. 2 100050740 rs13409359 A C 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.8275,C/0.1725;PC=0.014;Gene=REV1/NM_001037872.1/0;CC=c.1438+54T>G;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.1438+54T>G;VC=Intron;DM=REV1/IMS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:29:0:0:15,15:491,485:0.00,46.62:0.00,41.16:0.00,5.46:0.00,1.00:0.00,1.00:0.00,0.79:60,60:6.3,34.4:0,0:0,0:27,68:123,83:15,30:-,NM_016316.2(REV1) c.1438+54T>G:-,0.13:-,NOT_FOUND 2 100050911 . C . . NT END=100052294;NT GT ./. 2 100052404 . C . . NT END=100055061;NT GT ./. 2 100055033 rs10175852 C A 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8329,A/0.1671;PC=0.992;Gene=REV1/NM_001037872.1/0;CC=c.1213+30G>T;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.1213+30G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:25:23:0:0:12,13:369,360:35.08,0.00:26.04,0.00:9.04,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.1,23.2:0,0:0,0:60,69:89,82:14,34:NM_016316.2(REV1) c.1213+30G>T,-:0.13,-:0.161176,- 2 100055158 rs3087399 T C 82 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.8321,C/0.1679;PC=1.000;Gene=REV1/NM_001037872.1/0;CC=c.1118A>G;ProtCh=p.N373S;VC=Missense;Gene=REV1/NM_016316.2/1;CC=c.1118A>G;ProtCh=p.N373S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:34:0:0:27,25:849,741:82.15,0.00:46.76,0.00:35.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,13.0:0,0:0,0:75,83:75,66:33,30:NM_016316.2(REV1) c.1118A>G (p.Asn373Ser),-:0.13,-:0.165539,- 2 100055506 rs3087386 A G 464 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.4197,G/0.5803;PC=0.164;Gene=REV1/NM_001037872.1/0;CC=c.770T>C;ProtCh=p.F257S;VC=Missense;Gene=REV1/NM_016316.2/1;CC=c.770T>C;ProtCh=p.F257S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:125:80:0:0:1,124:10,4073:0.00,464.35:0.00,238.83:0.00,225.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,39.5:0,0:0,0:32,87:117,58:0,35:NM_016316.2(REV1) c.770T>C (p.Phe257Ser),NM_016316.2(REV1) c.770T>C (p.Phe257Ser):0.57,0.57:0.601492,0.601492 2 100055773 . C . . NT END=100058777;NT GT ./. 2 100058714 rs3070575 C CAA 33 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1;NP=2;Gene=REV1/NM_001037872.1/0;CC=c.503+64_503+65insTT;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.503+64_503+65insTT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAA,D:29:37:18:2:17,11,1:579,564,61:0.00,32.55,2.11:0.00,32.63,2.11:0.00,-0.08,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.53,0.00:60,70,60:41.4,80.6,0.0:0,7,1:0,0,0:115,48,65:25,83,85:19,36,7:-,NM_016316.2(REV1) c.503+64_503+65insTT:-,NOT_FOUND:-,NOT_FOUND 2 100058870 rs3087403 C T 118 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.7742,T/0.2258;PC=0.005;Gene=REV1/NM_001037872.1/0;CC=c.412G>A;ProtCh=p.V138M;VC=Missense;Gene=REV1/NM_016316.2/1;CC=c.412G>A;ProtCh=p.V138M;VC=Missense;DM=REV1/IMS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:46:0:0:35,39:1132,1221:0.00,118.43:0.00,50.48:0.00,67.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,39.8:0,0:0,0:71,87:75,58:38,28:-,NM_016316.2(REV1) c.412G>A (p.Val138Met):-,0.24:-,0.280025 2 100058932 . C . . NT END=100065796;NT GT ./. 2 100065967 . C . . NT END=100067806;NT GT ./. 2 100066140 rs398080454 CT C 20 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CT/0.4219,C/0.5781;DB;DBA=NA;PAF=CT/0.4219,C/0.5781;DB;DBA=NA;PAF=CT/0.4219,C/0.5781;NP=336;Gene=REV1/NM_001037872.1/0;CC=c.182-175delA;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.182-175delA;VC=Intron;DM=REV1/IMS;DM=REV1/BRCT;DM=REV1/IMS_C;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:CT,C:7:0:0:6:1,6:29,184:0.00,20.01:0.00,0.00:0.00,20.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:118.0,3.2:0,0:0,0:148,102:2,47:0,20:-,NM_016316.2(REV1) c.182-175delA:-,0.57:-,NOT_FOUND 2 100067554 rs7594838 C T 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4185,T/0.5815;PC=0.003;Gene=REV1/NM_001037872.1/0;CC=c.182-1588G>A;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.182-1588G>A;VC=Intron;DM=REV1/IMS;DM=REV1/BRCT;DM=REV1/IMS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:162:18.58:18.58:0.00:1.00:1.00:0.00:60:101.4:0:0:24:127:12:NM_016316.2(REV1) c.182-1588G>A,NM_016316.2(REV1) c.182-1588G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 100067578 rs7567674 G A 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4069,A/0.5931;Gene=REV1/NM_001037872.1/0;CC=c.182-1612C>T;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.182-1612C>T;VC=Intron;DM=REV1/IMS;DM=REV1/BRCT;DM=REV1/IMS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:219:25.24:25.24:0.00:1.00:1.00:0.00:60:86.0:0:0:43:108:20:NM_016316.2(REV1) c.182-1612C>T,NM_016316.2(REV1) c.182-1612C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 2 100067964 . c . . NT END=100078956;NT GT ./. 2 100068069 rs4851206 T C 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5996,C/0.4004;PC=0.001;Gene=REV1/NM_001037872.1/0;CC=c.182-2103A>G;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.182-2103A>G;VC=Intron;DM=REV1/IMS;DM=REV1/BRCT;DM=REV1/IMS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:5:0:0:12,7:339,227:34.15,0.00:6.74,0.00:27.42,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:42.8,13.0:0,0:0,0:99,60:51,90:33,35:NM_016316.2(REV1) c.182-2103A>G,-:0.43,-:NOT_FOUND,- 2 100078760 rs28369949 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8423,T/0.1577;Gene=REV1/NM_001037872.1/0;CC=c.181+198G>A;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.181+198G>A;VC=Intron;DM=REV1/IMS;DM=REV1/BRCT;DM=REV1/IMS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:7:7:0:0:2,5:69,166:0.00,17.17:0.00,17.17:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,35.4:0,0:0,0:80,58:70,92:20,33:-,NM_016316.2(REV1) c.181+198G>A:-,0.12:-,NOT_FOUND 2 100079085 . C . . NT END=100081382;NT GT ./. 2 100081323 rs28369943 C T 73 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4133,T/0.5867;PC=0.023;Gene=REV1/NM_001037872.1/0;CC=c.54+61G>A;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.54+61G>A;VC=Intron;DM=REV1/IMS_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:19:0:0:20:636:73.11:57.90:15.21:1.00:1.00:1.00:60:39.5:0:0:66:83:30:NM_016316.2(REV1) c.54+61G>A,NM_016316.2(REV1) c.54+61G>A:0.58,0.58:0.598336,0.598336 2 100081438 . G . . NT END=100167935;NT GT ./. 2 100081561 rs28369942 A AAAGTC 50 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4135,AAAGTC/0.5865,AAGTC/.;NP=59;PC=0.002;Gene=REV1/NM_001037872.1/0;CC=c.-10-115_-10-114insGACTT;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.-10-115_-10-114insGACTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,AAAGTC:21:1:15:0:6,15:181,480:0.00,49.70:0.00,-0.54:0.00,50.24:0.00,1.00:0.00,0.81:0.00,1.00:60,60:11.8,5.0:0,0:0,0:143,75:5,76:1,34:-,NM_016316.2(REV1) c.-10-115_-10-114insGACTT:-,0.56:-,NOT_FOUND 2 100081649 rs28369940 CAT C 21 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CAT/0.8321,C/0.1679;NP=65;Gene=REV1/NM_001037872.1/0;CC=c.-10-204_-10-203delAT;VC=Intron;Gene=REV1/NM_016316.2/1;CC=c.-10-204_-10-203delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:CAT,C:11:0:0:7:4,7:134,207:0.00,20.91:0.00,0.00:0.00,20.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.2,2.4:0,0:0,0:127,86:24,65:7,51:-,NM_016316.2(REV1) c.-10-204_-10-203delAT:-,0.13:-,NOT_FOUND 2 100167615 rs144890858 GGTGT G 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=7;PC=0.241;Gene=AFF3/NM_001025108.1/0;CC=c.*317_*320delACAC;VC=3UTR;Gene=AFF3/NM_002285.2/1;CC=c.*317_*320delACAC;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:5:0:5:4:161:14.42:10.69:3.73:0.96:0.96:0.97:60:6.8:1:0:21:128:1:NM_001025108.1(AFF3) c.*291AC[13],NM_001025108.1(AFF3) c.*291AC[13]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 100168058 . C . . NT END=100170772;NT GT ./. 2 100170997 . C . . NT END=100171144;NT GT ./. 2 100171195 . C . . NT END=100175336;NT GT ./. 2 100175431 . C . . NT END=100176826;NT GT ./. 2 100176899 . C . . NT END=100181948;NT GT ./. 2 100182086 . C . . NT END=100185313;NT GT ./. 2 100185378 . C . . NT END=100194788;NT GT ./. 2 100194914 . C . . NT END=100199259;NT GT ./. 2 100199462 . C . . NT END=100203615;NT GT ./. 2 100203741 . C . . NT END=100209656;NT GT ./. 2 100209401 rs13003384 C A 10 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8514,A/0.1486,T/.;NP=126;NP=2;Gene=AFF3/NM_001025108.1/0;CC=c.2541+256G>T;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.2466+256G>T;VC=Intron;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,C:4:3:0:0:3,1:98,33:10.25,0.00:10.86,0.00:-0.60,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:44.3,90.0:0,0:0,0:6,112:145,39:3,0:NM_001025108.1(AFF3) c.2541+256G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 100210074 rs1047281 G C 216 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=G/0.8532,C/0.1468;Gene=AFF3/NM_001025108.1/0;CC=c.2124C>G;ProtCh=p.S708=;VC=Silent;Gene=AFF3/NM_002285.2/1;CC=c.2049C>G;ProtCh=p.S683=;VC=Silent;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:136:83:0:0:75,61:2208,1773:215.79,0.00:134.26,0.00:81.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,16.7:0,0:0,0:80,83:71,67:39,45:NM_001025108.1(AFF3) c.2124C>G (p.(=)),-:0.14,-:0.170829,- 2 100210642 rs1047265 T C 225 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=T/0.8522,C/0.1478;Gene=AFF3/NM_001025108.1/0;CC=c.1556A>G;ProtCh=p.N519S;VC=Missense;Gene=AFF3/NM_002285.2/1;CC=c.1481A>G;ProtCh=p.N494S;VC=Missense;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:137:69:0:0:69,68:2332,2102:224.93,0.00:87.73,0.00:137.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,6.0:0,0:0,0:83,76:68,72:27,36:NM_001025108.1(AFF3) c.1556A>G (p.Asn519Ser),-:0.14,-:0.173382,- 2 100210752 . C . . NT END=100217896;NT GT ./. 2 100218084 . C . . NT END=100266087;NT GT ./. 2 100251389 rs77826402 C T 10 end,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9241,T/0.07588;PC=0.001;Gene=AFF3/NM_001025108.1/0;CC=c.1259+14699G>A;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.1184+14699G>A;VC=Intron;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:3:0:0:1,3:36,99:0.00,10.35:0.00,5.08:0.00,5.28:0.00,0.85:0.00,0.99:0.00,0.99:60,60:33.0,63.3:0,0:0,0:136,9:15,112:0,1:-,NM_001025108.1(AFF3) c.1259+14699G>A:-,0.09:-,NOT_FOUND 2 100251403 rs9284724 T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.122,C/0.878;Gene=AFF3/NM_001025108.1/0;CC=c.1259+14685A>G;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.1184+14685A>G;VC=Intron;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:3:0:0:5:122:14.51:8.58:5.93:1.00:1.00:1.00:60:51.0:0:0:66:63:43:NM_001025108.1(AFF3) c.1259+14685A>G,NM_001025108.1(AFF3) c.1259+14685A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 100265936 rs17782474 A G 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.969,G/0.03095;PC=1.000;Gene=AFF3/NM_001025108.1/0;CC=c.1259+152T>C;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.1184+152T>C;VC=Intron;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:10:10:0:0:4,6:129,178:0.00,17.74:0.00,17.74:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:38.0,43.5:0,0:0,0:50,54:99,96:13,32:-,NM_001025108.1(AFF3) c.1259+152T>C:-,0.05:-,NOT_FOUND 2 100266129 . C . . NT END=100288999;NT GT ./. 2 100289052 . C . . NT END=100323565;NT GT ./. 2 100324111 . T . . NT END=100343538;NT GT ./. 2 100324161 . CT C 11 rn VT=DEL;SST=Single;DP=26;Gene=AFF3/NM_001025108.1/0;CC=c.1166+19377delA;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.1091+19377delA;VC=Intron;DM=AFF3/AF-4;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:CT,C:25:11:0:5:21,4:564,167:0.00,10.55:0.00,2.59:0.00,7.96:0.00,0.67:0.00,0.78:0.00,0.94:60,60:13.5,12.8:0,1:0,0:113,92:30,50:26,8:-,NM_001025108.1(AFF3) c.1166+19377delA:-,NOT_FOUND:-,NOT_FOUND 2 100343557 rs4851223 C T 163 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=3484;PC=1.000;Gene=AFF3/NM_001025108.1/0;CC=c.1148G>A;ProtCh=p.S383N;VC=Missense;Gene=AFF3/NM_002285.2/1;CC=c.1073G>A;ProtCh=p.S358N;VC=Missense;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:A,T:46:28:0:0:1,45:8,1425:0.12,163.41:0.00,77.83:0.12,85.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:77.0,41.4:0,0:0,0:64,72:71,69:0,19:NM_001025108.1(AFF3) c.=,NM_001025108.1(AFF3) c.=:1,1:NOT_FOUND,NOT_FOUND 2 100343591 . C . . NT END=100360565;NT GT ./. 2 100360603 . C . . NT END=100368682;NT GT ./. 2 100368764 . C . . NT END=100453938;NT GT ./. 2 100395357 rs59909977 CGCGTGTGT C 13 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=208;PC=0.108;Gene=AFF3/NM_001025108.1/0;CC=c.997-26602_997-26595delACACACGC;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.922-26602_922-26595delACACACGC;VC=Intron;DM=AFF3/AF-4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:CGCGTGTGT,C:5:4:0:5:1,4:28,120:0.00,12.82:0.00,6.36:0.00,6.46:0.00,0.96:0.00,1.00:0.00,1.00:17,70:0.0,39.2:0,0:0,0:37,104:22,45:0,24:-,NM_001025108.1(AFF3) c.997-26602_997-26595delACACACGC:-,NOT_FOUND:-,NOT_FOUND 2 100453987 . C . . NT END=100623093;NT GT ./. 2 100454072 rs5832886 C CT 27 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3606,CT/0.6394;NP=2;NP=2704;Gene=AFF3/NM_001025108.1/0;CC=c.949-87_949-86insA;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.874-87_874-86insA;VC=Intron;DM=AFF3/AF-4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:20:4:9:0:11,9:331,286:0.00,26.92:0.00,4.87:0.00,22.06:0.00,1.00:0.00,0.91:0.00,1.00:60,60:30.3,2.0:0,0:0,0:70,131:81,20:50,9:-,NM_001025108.1(AFF3) c.949-87_949-86insA:-,0.62:-,NOT_FOUND 2 100454085 rs1864273 T A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.852,A/0.148;Gene=AFF3/NM_001025108.1/0;CC=c.949-99A>T;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.874-99A>T;VC=Intron;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:19:2:0:0:9,10:276,274:26.21,0.00:1.59,0.00:24.62,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:36.6,5.2:0,0:0,0:38,105:113,44:21,29:NM_001025108.1(AFF3) c.949-99A>T,-:0.16,-:NOT_FOUND,- 2 100623480 . C . . NT END=100623609;NT GT ./. 2 100623923 . C . . NT END=100625273;NT GT ./. 2 100624158 rs55649403 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8936,T/0.1064;Gene=AFF3/NM_001025108.1/0;CC=c.250-236G>A;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.175-236G>A;VC=Intron;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:6:1:0:0:3,3:99,99:0.00,9.52:0.00,-0.30:0.00,9.83:0.00,0.73:0.00,0.67:0.00,0.96:60,60:42.0,41.3:0,0:0,0:76,88:74,62:9,6:-,NM_001025108.1(AFF3) c.250-236G>A:-,0.12:-,NOT_FOUND 2 100625395 . C . . NT END=100720863;NT GT ./. 2 100625584 rs72819165 G A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8782,A/0.1218;Gene=AFF3/NM_001025108.1/0;CC=c.129-190C>T;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.54-190C>T;VC=Intron;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:10:0:0:0:3,7:98,220:8.58,0.00:0.00,0.00:8.58,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:32.7,8.1:0,0:0,0:127,60:24,91:2,24:NM_001025108.1(AFF3) c.129-190C>T,-:0.12,-:NOT_FOUND,- 2 100672525 rs6542906 T A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.010;Gene=AFF3/NM_001025108.1/0;CC=c.54-44492A>T;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.54-47131A>T;VC=Intron;DM=AFF3/AF-4;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,T:4:4:0:0:3,1:104,34:10.85,0.00:8.93,0.00:1.93,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:34.7,0.0:0,1:0,0:97,13:44,138:17,0:NM_001025108.1(AFF3) c.54-44492A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 100672692 rs10209110 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5683,T/0.4317;PC=0.010;Gene=AFF3/NM_001025108.1/0;CC=c.54-44659G>A;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.54-47298G>A;VC=Intron;DM=AFF3/AF-4;DM=AFF3/AF-4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:4:0:0:0:2,2:63,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,34.5:0,0:0,0:105,79:45,72:15,49:-,NM_001025108.1(AFF3) c.54-44659G>A:-,0.41:-,NOT_FOUND 2 100720981 . C . . NT END=100721129;NT GT ./. 2 100721050 rs13421952 A G 123 nt VT=SNV;PN=C;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.5164,G/0.4836;Gene=AFF3/NM_001025108.1/0;CC=c.-64-70T>C;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.-64-70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,D:94:33:0:1:50,2,40,1,1:1295,20,1306,10,24:0.00,-0.07,122.84,-0.13,0.73:0.00,-0.07,29.81,-0.04,0.44:0.00,-0.00,93.03,-0.09,0.28:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:60,60,60,56,31:28.8,56.0,44.9,19.0,0.0:0,0,0,0,0:0,0,0,0,0:79,59,96,41,2:71,92,51,110,149:33,22,30,0,0:-,NM_001025108.1(AFF3) c.-64-70T>C:-,0.45:-,NOT_FOUND 2 100721179 . G . . NT END=100721796;NT GT ./. 2 100721260 . AGCCGCCGCC A 56 idl,nt VT=DEL;SST=Single;DP=64;PC=0.001;Gene=AFF3/NM_001025108.1/0;CC=c.-64-289_-64-281delGGCGGCGGC;VC=Intron;Gene=AFF3/NM_002285.2/1;CC=c.-64-289_-64-281delGGCGGCGGC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGCCGCCGCC,G,A:61:6:0:25:39,1,21:1212,20,724:0.00,0.49,56.23:0.00,-0.02,3.68:0.00,0.51,52.55:0.00,0.00,1.00:0.00,0.00,0.89:0.00,0.00,1.00:60,60,60:15.7,197.0,28.7:2,0,3:0,0,0:114,90,94:25,61,57:13,0,13:-,NM_001025108.1(AFF3) c.-64-289_-64-281delGGCGGCGGC:-,NOT_FOUND:-,NOT_FOUND 2 100721890 . G . . NT END=100721965;NT GT ./. 2 100722046 . C . . NT END=100722133;NT GT ./. 2 100722908 rs1866033 A G 153 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.7302,G/0.2698;Gene=AFF3/NM_002285.2/1;CC=c.-144-863T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:123:78:0:0:72,51:2284,1646:0.00,152.68:0.00,63.97:0.00,88.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,40.9:0,0:0,0:81,63:69,87:43,39:-,NM_001025108.1(AFF3) c.-144-u863T>C:-,0.24:-,NOT_FOUND 2 100723645 rs11123807 G A 329 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.1989,A/0.8011;PC=0.049;Gene=AFF3/NM_002285.2/1;CC=c.-144-1600C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:89:48:0:0:89:2867:329.06:144.51:184.55:1.00:1.00:1.00:60:38.3:0:0:64:86:33:NM_001025108.1(AFF3) c.-144-u1600C>T,NM_001025108.1(AFF3) c.-144-u1600C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 2 100723950 . T . . NT END=100900759;NT GT ./. 2 100753984 rs72819181 C T 15 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9283,T/0.07169;Gene=AFF3/NM_002285.2/1;CC=c.-145+4962G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:130:14.91:12.92:1.99:1.00:1.00:1.00:60:78.0:0:0:81:69:24:NM_002285.2(AFF3) c.-145+4962G>A,NM_002285.2(AFF3) c.-145+4962G>A:0.08,0.08:NOT_FOUND,NOT_FOUND 2 100754022 rs62150272 G C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.769,C/0.231;NP=186;Gene=AFF3/NM_002285.2/1;CC=c.-145+4924C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:102:12.07:5.02:7.05:1.00:1.00:1.00:60:77.0:0:0:95:55:26:NM_002285.2(AFF3) c.-145+4924C>G,NM_002285.2(AFF3) c.-145+4924C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 100869129 rs59432480 CTGTG C 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CTGTG/0.5302,C/0.4698;DB;DBA=NA;PAF=CTGTG/0.5302,C/0.4698;NP=80;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CTGTG,C:5:5:0:3:2,3:70,98:0.00,9.77:0.00,6.66:0.00,3.11:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,11.7:0,0:0,0:65,89:85,57:11,5:-,chr2 g.100869130_100869133delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 100900955 . C . . NT END=100903375;NT GT ./. 2 100903526 . C . . NT END=100906719;NT GT ./. 2 100906570 rs55759234 A AAAAT 29 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.6324,AAAAT/0.3676;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6324,AAAAT/0.3676;NP=376;PC=0.550;Gene=LONRF2/NM_198461.3/1;CC=c.1920+149_1920+150insATTT;VC=Intron;DM=LONRF2/LON_substr_bdg;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAAAT:32:32:11:0:21,11:676,330:0.00,29.30:0.00,29.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.9,16.1:0,0:0,0:42,57:106,94:28,14:-,NM_198461.3(LONRF2) c.1920+149_1920+150insATTT:-,NOT_FOUND:-,NOT_FOUND 2 100906883 . C . . NT END=100910690;NT GT ./. 2 100910850 . C . . NT END=100911893;NT GT ./. 2 100912016 . C . . NT END=100915297;NT GT ./. 2 100915413 . C . . NT END=100915687;NT GT ./. 2 100915629 rs4851286 T C 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2604,C/0.7396;Gene=LONRF2/NM_198461.3/1;CC=c.1361+59A>G;VC=Intron;DM=LONRF2/zf-C3HC4_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:20:0:0:14,13:495,425:48.06,0.00:32.82,0.00:15.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,2.3:0,0:0,0:50,79:99,72:29,35:NM_198461.3(LONRF2) c.1361+59A>G,-:0.76,-:NOT_FOUND,- 2 100915772 rs4851287 A G 56 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.2282,G/0.7718;PC=0.972;Gene=LONRF2/NM_198461.3/1;CC=c.1277T>C;ProtCh=p.L426P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:26:0:0:24,18:847,601:0.00,56.23:0.00,20.81:0.00,35.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,34.3:0,0:0,0:72,104:73,46:26,20:-,NM_198461.3(LONRF2) c.1277T>C (p.Leu426Pro):-,0.78:-,0.708135 2 100915782 . C . . NT END=100916178;NT GT ./. 2 100916051 rs2033749 T C 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.228,C/0.772;Gene=LONRF2/NM_198461.3/1;CC=c.1267+128A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:28:25:0:0:14,1,13:403,12,413:38.82,0.20,0.00:32.27,0.22,0.00:6.55,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.89,0.00,0.00:60,60,60:43.5,24.0,15.4:0,0,0:0,0,0:29,9,82:121,142,68:24,0,30:NM_198461.3(LONRF2) c.1267+128A>G,-:0.78,-:NOT_FOUND,- 2 100916306 rs2033748 A G 135 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.2286,G/0.7714;PC=0.745;Gene=LONRF2/NM_198461.3/1;CC=c.1140T>C;ProtCh=p.F380=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:79:46:0:0:35,44:1120,1375:0.00,134.80:0.00,59.96:0.00,74.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,64.3:0,0:0,0:93,77:52,69:29,33:-,NM_198461.3(LONRF2) c.1140T>C (p.(=)):-,0.78:-,0.708288 2 100916315 rs11123823 A G 135 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.7093,G/0.2907;PC=0.987;Gene=LONRF2/NM_198461.3/1;CC=c.1131T>C;ProtCh=p.G377=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:38:0:0:36,42:1076,1380:0.00,134.69:0.00,50.13:0.00,84.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,66.8:0,0:0,0:107,79:40,69:33,37:-,NM_198461.3(LONRF2) c.1131T>C (p.(=)):-,0.34:-,0.342996 2 100916381 . C . . NT END=100917105;NT GT ./. 2 100916714 rs35877708 A AT 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5763,AT/0.4237;NP=30;Gene=LONRF2/NM_198461.3/1;CC=c.1066-335_1066-334insA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,AT:4:3:3:0:1,3:33,94:0.00,9.85:0.00,6.10:0.00,3.75:0.00,0.85:0.00,0.99:0.00,0.83:60,60:0.0,92.7:0,0:0,0:28,61:123,90:0,14:-,NM_198461.3(LONRF2) c.1066-335_1066-334insA:-,NOT_FOUND:-,NOT_FOUND 2 100916724 rs6727623 A T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.263,T/0.737;Gene=LONRF2/NM_198461.3/1;CC=c.1066-344T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,T:5:4:0:0:2,3:62,84:0.00,8.36:0.00,4.81:0.00,3.55:0.00,0.78:0.00,0.97:0.00,0.73:60,60:7.5,92.7:0,0:0,0:19,72:132,79:19,14:-,NM_198461.3(LONRF2) c.1066-344T>A:-,NOT_FOUND:-,NOT_FOUND 2 100917109 rs13006224 C T 113 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.6214,G/.,T/0.3786;PC=0.273;Gene=LONRF2/NM_198461.3/1;CC=c.1062G>A;ProtCh=p.S354=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:70:54:0:0:1,35,34:14,1120,1173:0.09,0.00,112.74:-0.13,0.00,72.86:0.22,0.00,39.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:25.0,2.7,38.3:0,0,0:0,0,0:2,63,47:148,84,101:0,30,21:-,NM_198461.3(LONRF2) c.1062G>A (p.(=)):-,0.44:-,0.358757 2 100917250 . C . . NT END=100919382;NT GT ./. 2 100919506 . C . . NT END=100925568;NT GT ./. 2 100925340 rs13001423 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5483,G/0.4517;Gene=LONRF2/NM_198461.3/1;CC=c.798+229T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:141:16.01:16.01:0.00:1.00:1.00:0.00:60:101.8:0:0:27:123:8:NM_198461.3(LONRF2) c.798+229T>C,NM_198461.3(LONRF2) c.798+229T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 100925399 rs11689439 T C 26 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5483,C/0.4517;PC=0.118;Gene=LONRF2/NM_198461.3/1;CC=c.798+170A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T:8:8:0:0:7,1:244,33:26.43,0.00:24.47,0.00:1.96,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:87.6,0.0:0,0:0,0:65,29:68,122:25,0:NM_198461.3(LONRF2) c.798+170A>G,-:0.5,-:NOT_FOUND,- 2 100925439 rs11693424 G A 25 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5481,A/0.4519;Gene=LONRF2/NM_198461.3/1;CC=c.798+130C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G:8:8:0:0:7,1:230,32:25.03,0.00:23.07,0.00:1.96,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:85.1,0.0:0,0:0,0:105,69:28,82:25,0:NM_198461.3(LONRF2) c.798+130C>T,-:0.5,-:NOT_FOUND,- 2 100925688 . C . . NT END=100937876;NT GT ./. 2 100925803 rs10195793 A G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4708,G/0.5292;PC=0.002;Gene=LONRF2/NM_198461.3/1;CC=c.680-116T>C;VC=Intron;DM=LONRF2/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,G:11:0:0:0:6,5:197,170:0.00,16.09:0.00,0.00:0.00,16.09:0.00,0.93:0.00,0.00:0.00,0.93:60,60:1.8,41.6:0,0:0,0:115,87:35,63:17,22:-,NM_198461.3(LONRF2) c.680-116T>C:-,0.57:-,NOT_FOUND 2 100937707 rs12617779 G A 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5863,A/0.4137;Gene=LONRF2/NM_198461.3/1;CC=c.679+170C>T;VC=Intron;DM=LONRF2/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:18:0:0:8,11:238,312:21.99,0.00:22.23,0.00:-0.24,0.00:0.99,0.00:1.00,0.00:0.61,0.00:60,60:33.1,9.5:0,0:0,0:12,23:138,128:7,9:NM_198461.3(LONRF2) c.679+170C>T,-:0.48,-:NOT_FOUND,- 2 100938226 rs74177694 G C 271 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=175;DB;DBA=NA;PAF=G/0.5877,C/0.4123;PC=0.002;Gene=LONRF2/NM_198461.3/1;CC=c.330C>G;ProtCh=p.D110E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:175:120:0:0:86,88,1:2821,2658,10:270.65,0.00,-0.17:145.88,0.00,-0.11:124.77,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.3,15.1,117.0:0,0,0:0,0,0:79,71,92:61,72,59:38,30,0:NM_198461.3(LONRF2) c.330C>G (p.Asp110Glu),-:0.48,-:NOT_FOUND,- 2 100938328 rs74177695 T C 277 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=178;DB;DBA=NA;PAF=T/0.5875,C/0.4125;PC=0.977;Gene=LONRF2/NM_198461.3/1;CC=c.228A>G;ProtCh=p.E76=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:178:122:0:0:90,88:2880,2727:277.34,0.00:136.57,0.00:140.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.4,14.2:0,0:0,0:71,77:76,66:33,35:NM_198461.3(LONRF2) c.228A>G (p.(=)),-:0.48,-:NOT_FOUND,- 2 100938481 rs74177696 C G 335 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=244;DB;DBA=NA;PAF=C/0.6052,G/0.3948;PC=0.033;Gene=LONRF2/NM_198461.3/1;CC=c.75G>C;ProtCh=p.Q25H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:244:190:0:0:1,133,110:10,4479,3557:-0.19,0.00,335.41:-0.08,0.00,176.77:-0.11,0.00,158.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.0,8.8,42.4:0,0,0:0,0,0:110,73,59:41,73,84:0,32,29:-,NM_198461.3(LONRF2) c.75G>C (p.Gln25His):-,0.46:-,NOT_FOUND 2 100938556 . C . . NT END=101009706;NT GT ./. 2 100938917 rs11895772 G C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5962,C/0.4038;PC=0.002;Gene=LONRF2/NM_198461.3/1;CC=c.-362C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:C,G:5:0:0:0:3,2:95,57:9.47,0.00:0.00,0.00:9.47,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:49.7,40.5:0,0:0,0:108,110:43,40:10,6:NM_198461.3(LONRF2) c.-362C>G,-:0.46,-:NOT_FOUND,- 2 101009600 rs1530030 G A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6122,A/0.3878;Gene=CHST10/NM_004854.4/1;CC=c.*107C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:34:0:0:13,21:393,556:35.71,0.00:35.71,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.0,22.6:0,0:0,0:59,25:92,126:36,22:NM_004854.4(CHST10) c.*107C>T,-:0.45,-:NOT_FOUND,- 2 101009869 rs148920749 C T 236 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.9968,T/0.003195;NP=71;PC=0.998;Gene=CHST10/NM_004854.4/1;CC=c.909G>A;ProtCh=p.V303=;VC=Silent;DM=CHST10/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:137:82:0:0:60,77:2022,2406:0.00,236.34:0.00,108.63:0.00,127.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,35.4:0,0:0,0:62,68:82,82:41,29:-,NM_004854.4(CHST10) c.909G>A (p.(=)):-,0.0046:-,0.007843 2 101010082 rs3748930 G C 159 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=G/0.3942,C/0.6058,T/.;PC=0.983;Gene=CHST10/NM_004854.4/1;CC=c.696C>G;ProtCh=p.T232=;VC=Silent;DM=CHST10/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:126:73:0:0:56,68,2:1692,2139,19:158.77,0.00,-0.21:69.09,0.00,-0.09:89.68,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.4,5.7,45.0:0,0,0:0,0,0:89,67,88:61,79,63:32,36,18:NM_004854.4(CHST10) c.696C>G (p.(=)),-:0.61,-:0.539905,- 2 101010245 . C . . NT END=101011970;NT GT ./. 2 101011877 rs2241810 T C 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6128,C/0.3872;Gene=CHST10/NM_004854.4/1;CC=c.533+94A>G;VC=Intron;DM=CHST10/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:22:22:0:0:12,1,9:416,19,296:41.08,0.88,0.00:41.26,0.89,0.00:-0.17,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.70,0.00,0.00:60,60,60:47.8,127.0,10.8:0,0,0:0,0,0:59,125,59:91,26,92:24,0,25:NM_004854.4(CHST10) c.533+94A>G,-:0.45,-:NOT_FOUND,- 2 101012077 . C . . NT END=101014369;NT GT ./. 2 101014363 rs2241809 C T 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.633,T/0.367;PC=0.786;Gene=CHST10/NM_004854.4/1;CC=c.427+7G>A;VC=Intron;DM=CHST10/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:46:0:0:27,21:834,656:0.00,61.35:0.00,55.91:0.00,5.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.7,47.1:0,0:0,0:54,37:86,110:31,20:-,NM_004854.4(CHST10) c.427+7G>A:-,0.43:-,0.356451 2 101014605 . C . . NT END=101019025;NT GT ./. 2 101019118 . C . . NT END=101023037;NT GT ./. 2 101022726 rs4149513 G A 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.612,A/0.388;Gene=CHST10/NM_004854.4/1;CC=c.100+312C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:101:11.93:11.93:0.00:1.00:1.00:0.00:60:74.0:0:0:19:131:16:NM_004854.4(CHST10) c.100+312C>T,NM_004854.4(CHST10) c.100+312C>T:0.45,0.45:NOT_FOUND,NOT_FOUND 2 101023170 . C . . NT END=101031502;NT GT ./. 2 101031561 rs3828193 G T 36 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6372,T/0.3628;PC=0.118;Gene=CHST10/NM_004854.4/1;CC=c.-91C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:20:0:0:15,12:460,385:0.00,36.19:0.00,14.58:0.00,21.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.3,36.8:0,0:0,0:80,104:64,32:13,25:-,NM_004854.4(CHST10) c.-91C>A:-,0.42:-,NOT_FOUND 2 101031574 . C . . NT END=101033450;NT GT ./. 2 101033492 . G . . NT END=101086950;NT GT ./. 2 101033697 rs4149505 G A 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.637,A/0.363;Gene=CHST10/NM_004854.4/1;CC=c.-104+139C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G:11:0:0:0:7,4:220,114:22.21,0.00:0.00,0.00:22.21,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.9,15.2:0,0:0,0:101,132:50,19:23,11:NM_004854.4(CHST10) c.-104+139C>T,-:0.43,-:NOT_FOUND,- 2 101033756 rs4851314 C T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.02516,T/0.9748;Gene=CHST10/NM_004854.4/1;CC=c.-104+80G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:1:0:0:4:109:12.71:3.98:8.73:1.00:1.00:1.00:60:75.8:0:0:87:64:39:NM_004854.4(CHST10) c.-104+80G>A,NM_004854.4(CHST10) c.-104+80G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 101041594 rs58227973 TA T 16 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.089;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,TA,T:10:11:0:7:1,4,5:8,124,225:0.20,0.00,15.85:-0.15,0.00,15.85:0.35,0.00,0.00:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.61:14,60,60:93.0,56.8,26.2:0,0,2:0,0,0:54,49,15:59,101,110:0,17,7:-,NM_004854.4(CHST10) c.-398-u7465delT:-,NOT_FOUND:-,NOT_FOUND 2 101042122 rs7590388 T G 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.3658,G/0.6342;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:16:8:0:0:9,7:297,236:29.23,0.00:2.01,0.00:27.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.0,9.6:0,0:0,0:99,112:51,39:25,13:chr2 g.101042121T>G (intergenic),-:0.62,-:NOT_FOUND,- 2 101087027 . G . . NT END=101089256;NT GT ./. 2 101089313 . G . . NT END=101089950;NT GT ./. 2 101090002 . G . . NT END=101093705;NT GT ./. 2 101093730 . G . . NT END=101093822;NT GT ./. 2 101093877 . G . . NT END=101095814;NT GT ./. 2 101095890 . G . . NT END=101096957;NT GT ./. 2 101096994 . G . . NT END=101097587;NT GT ./. 2 101097630 . G . . NT END=101098738;NT GT ./. 2 101098774 . G . . NT END=101099713;NT GT ./. 2 101099727 . A . . NT END=101179529;NT GT ./. 2 101179536 . G . . NT END=101182964;NT GT ./. 2 101182906 . A C 78 nt VT=SNV;PN=A;NN=C;SST=Single;DP=62;Gene=PDCL3/NM_024065.4/1;CC=c.7-59A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:62:52:0:0:35,27:1091,834:0.00,77.75:0.00,52.82:0.00,24.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,35.2:0,0:0,0:57,55:94,86:34,35:-,NM_024065.4(PDCL3) c.7-59A>C:-,NOT_FOUND:-,NOT_FOUND 2 101183092 . G . . NT END=101185392;NT GT ./. 2 101185189 rs13422218 T G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1913,G/0.8087;Gene=PDCL3/NM_024065.4/1;CC=c.134-204T>G;VC=Intron;DM=PDCL3/Phosducin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:G,T:10:10:0:0:5,5:153,163:14.65,0.00:14.65,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:30.6,15.6:0,0:0,0:24,22:126,127:16,18:NM_024065.4(PDCL3) c.134-204T>G,-:0.76,-:NOT_FOUND,- 2 101185484 . G . . NT END=101186039;NT GT ./. 2 101185539 rs573688866 G GT 7 rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.023;Gene=PDCL3/NM_024065.4/1;CC=c.224+66_224+67insT;VC=Intron;DM=PDCL3/Phosducin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:G,GT,D:36:10:3:1:32,3,1:952,97,32:0.00,6.69,1.73:0.00,2.44,-0.07:0.00,4.25,1.80:0.00,0.39,0.00:0.00,0.51,0.00:0.00,0.85,0.00:60,60,60:10.2,14.0,0.0:0,0,0:0,0,0:93,98,25:56,53,125:38,26,0:-,NM_024065.4(PDCL3) c.224+56_224+57insT:-,NOT_FOUND:-,NOT_FOUND 2 101186088 rs1052117 C T 137 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.3468,T/0.6532;PC=1.000;Gene=PDCL3/NM_024065.4/1;CC=c.273C>T;ProtCh=p.F91=;VC=Silent;DM=PDCL3/Phosducin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:95:72:0:0:51,44:1598,1445:0.00,137.04:0.00,87.33:0.00,49.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,35.3:0,0:0,0:78,61:73,89:30,41:-,NM_024065.4(PDCL3) c.273C>T (p.(=)):-,0.61:-,0.48208 2 101186184 . G . . NT END=101188051;NT GT ./. 2 101188261 . G . . NT END=101192815;NT GT ./. 2 101188373 rs200567426 C CCTGTGTATGAGTGA 37 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3542,CCTGTGTATGAGTGA/0.6458,CGTGTGTATGAGTGA/.;DB;DBA=NA;PAF=NA;NP=105;PC=0.003;Gene=PDCL3/NM_024065.4/1;CC=c.577+124_577+125insTGACTGTGTATGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCTGTGTATGAGTGA:25:0:13:0:13,12:425,421:0.00,37.10:0.00,0.00:0.00,37.10:0.00,1.00:0.00,0.00:0.00,1.00:60,70:6.2,2.9:0,1:0,0:115,60:36,88:22,18:-,NM_024065.4(PDCL3) c.577+113_577+114insCTGTGTATGAGTGA:-,0.62:-,NOT_FOUND 2 101192959 . G . . NT END=101437488;NT GT ./. 2 101193133 rs397985310 CT C 12 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CT/0.1094,C/0.8906;DB;DBA=NA;PAF=CT/0.1094,C/0.8906;NP=98;Gene=PDCL3/NM_024065.4/1;CC=c.*186delT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,CT,I,C:20:0:2:5:1,12,2,5:31,367,55,141:2.01,0.00,3.91,11.98:0.00,0.00,0.00,0.00:2.01,0.00,3.91,11.98:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.85:47,60,60,60:149.0,13.2,0.0,17.2:0,0,0,0:0,0,0,0:101,107,28,68:14,42,122,83:0,29,22,51:-,NM_024065.4(PDCL3) c.*176T[10]:-,NOT_FOUND:-,NOT_FOUND 2 101233020 rs57965564 T TCA 6 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5152,TCA/.,TCACA/.,TCACACA/0.4848;DB;DBA=NA;PAF=T/0.5152,TCA/.,TCACACA/0.4848,TCACACACA/.,TCACACACACA/.;NP=1;NP=10;NP=16;NP=2;NP=3;NP=95;PC=0.003;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TCA:3:5:5:0:1,2:33,152:0.00,6.42:0.00,4.22:0.00,2.20:0.00,0.42:0.00,0.86:0.00,0.63:40,60:0.0,27.0:0,3:0,0:80,59:33,92:0,28:-,chr2 g.101233020_101233021insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 101237610 rs78813090 GTCACAC G 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=82;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G:2:4:0:6:2:150:6.56:4.97:1.59:0.46:0.87:0.70:60:111.0:3:0:55:96:21:chr2 g.101237611_101237616delTCACAC (intergenic),chr2 g.101237611_101237616delTCACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 101436708 rs553770076 C CGCGGCGGCGGCGGCGGCG 43 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.9635,CGCGGCG/0.03335,CGCGGCGGCGGCGGCG/0.003195;NP=10;PC=0.956;Gene=NPAS2/NM_002518.3/1;CC=c.-168_-167insGGCGGCGGCGGCGGCGGC;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,CGCGGCGGCGGCGGCGGCG:17:13:14:0:4,13:132,443:0.00,43.34:0.00,20.33:0.00,23.01:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,0.8:0,1:0,0:106,70:24,67:3,14:-,NM_002518.3(NPAS2) c.-188GGC[13]:-,NOT_FOUND:-,NOT_FOUND 2 101437662 . G . . NT END=101494434;NT GT ./. 2 101491923 rs70943049 TACACAC T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TACACAC/0.3301,T/0.6699;DB;DBA=NA;PAF=TACACAC/0.3301,T/0.6699;NP=96;PC=0.007;Gene=NPAS2/NM_002518.3/1;CC=c.-22-29232_-22-29227delCACACA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:TACACAC,T:5:3:0:4:2,3:42,101:0.00,10.09:0.00,5.28:0.00,4.80:0.00,0.78:0.00,0.94:0.00,0.97:60,60:34.0,50.0:0,0:0,0:135,72:15,77:14,8:-,NM_002518.3(NPAS2) c.-22-29271_-22-29266delACACAC:-,NOT_FOUND:-,NOT_FOUND 2 101491972 rs7564936 T G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3828,G/0.6172;Gene=NPAS2/NM_002518.3/1;CC=c.-22-29223T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:198:22.66:9.59:13.07:1.00:1.00:1.00:60:44.8:0:0:77:53:23:NM_002518.3(NPAS2) c.-22-29223T>G,NM_002518.3(NPAS2) c.-22-29223T>G:0.62,0.62:NOT_FOUND,NOT_FOUND 2 101494219 rs4622754 G C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.05591,C/0.9441;Gene=NPAS2/NM_002518.3/1;CC=c.-22-26976G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:261:29.92:29.92:0.00:1.00:1.00:0.00:60:32.6:0:0:38:112:15:NM_002518.3(NPAS2) c.-22-26976G>C,NM_002518.3(NPAS2) c.-22-26976G>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 101494480 rs11904563 T G 433 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.2079,G/0.7921;PC=0.008;Gene=NPAS2/NM_002518.3/1;CC=c.-22-26715T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:115:93:0:0:115:3782:432.94:276.73:156.21:1.00:1.00:1.00:60:39.3:0:0:67:82:34:NM_002518.3(NPAS2) c.-22-26715T>G,NM_002518.3(NPAS2) c.-22-26715T>G:0.79,0.79:NOT_FOUND,NOT_FOUND 2 101495096 . G . . NT END=101517966;NT GT ./. 2 101495174 rs2871389 C T 153 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.5106,T/0.4894;PC=0.002;Gene=NPAS2/NM_002518.3/1;CC=c.-22-26021C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:5:0:0:43:1330:153.41:9.64:143.77:1.00:1.00:1.00:60:38.8:0:0:108:43:33:NM_002518.3(NPAS2) c.-22-26021C>T,NM_002518.3(NPAS2) c.-22-26021C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 2 101518065 . g . . NT END=101521194;NT GT ./. 2 101520972 rs5832941 A AT 26 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1783,AT/0.8217;NP=271;Gene=NPAS2/NM_002518.3/1;CC=c.-22-223_-22-222insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:AT:7:7:7:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:1.6:0:0:38:113:3:NM_002518.3(NPAS2) c.-22-223_-22-222insT,NM_002518.3(NPAS2) c.-22-223_-22-222insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 101521173 rs549070561 AT A 58 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=68;Gene=NPAS2/NM_002518.3/1;CC=c.-22-5delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:34:33:1:27:13,1,20:410,30,766:0.00,1.74,57.80:0.00,-0.12,32.96:0.00,1.85,24.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:45.2,10.0,48.0:0,0,6:0,0,0:29,79,35:117,72,113:19,0,19:-,NM_002518.3(NPAS2) c.-22-21delT:-,NOT_FOUND:-,NOT_FOUND 2 101521249 . G . . NT END=101541607;NT GT ./. 2 101541757 . G . . NT END=101549371;NT GT ./. 2 101541798 rs356651 C T 198 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.08706,T/0.9129;PC=0.093;Gene=NPAS2/NM_002518.3/1;CC=c.181+42C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:T:54:16:0:0:54:1722:197.85:38.28:159.57:1.00:1.00:1.00:60:37.3:0:0:100:45:27:NM_002518.3(NPAS2) c.181+42C>T,NM_002518.3(NPAS2) c.181+42C>T:0.9,0.9:0.850838,0.850838 2 101549464 . G . . NT END=101551287;NT GT ./. 2 101551594 . G . . NT END=101554214;NT GT ./. 2 101554305 . G . . NT END=101564696;NT GT ./. 2 101564818 . G . . NT END=101565828;NT GT ./. 2 101565943 . G . . NT END=101580519;NT GT ./. 2 101580639 . G . . NT END=101581322;NT GT ./. 2 101581246 rs7581886 C T 65 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.04293,T/0.9571;Gene=NPAS2/NM_002518.3/1;CC=c.718-77C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:16:0:0:18:565:65.05:55.71:9.34:1.00:1.00:1.00:60:45.4:0:0:23:117:17:NM_002518.3(NPAS2) c.718-77C>T,NM_002518.3(NPAS2) c.718-77C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 101581294 rs60527883 C CT 7 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6981,CTT/0.3019;DB;DBA=NA;PAF=C/0.6981,CT/.,CTT/0.3019,CTTT/.,CTTTT/.;DB;DBA=NA;PAF=C/0.6981,CTT/0.3019,CTTT/.;NP=12;NP=19;PC=0.001;Gene=NPAS2/NM_002518.3/1;CC=c.718-16dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:C,CT,D:31:27:3:3:25,3,3:807,94,90:0.00,6.69,6.29:0.00,3.04,4.77:0.00,3.65,1.52:0.00,0.42,0.00:0.00,0.85,0.00:0.00,0.62,0.00:60,60,60:41.6,11.7,15.0:0,0,0:0,0,0:44,31,32:103,93,116:26,21,29:-,NM_002518.3(NPAS2) c.718-29_718-28insT:-,NOT_FOUND:-,NOT_FOUND 2 101581406 . G . . NT END=101582121;NT GT ./. 2 101581976 rs4851392 A G 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1276,G/0.8724;Gene=NPAS2/NM_002518.3/1;CC=c.801-146A>G;VC=Intron;DM=NPAS2/PAS_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:8:0:0:9:288:33.09:29.31:3.78:1.00:1.00:1.00:60:44.8:0:0:78:72:32:NM_002518.3(NPAS2) c.801-146A>G,NM_002518.3(NPAS2) c.801-146A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 101582229 . G . . NT END=101584742;NT GT ./. 2 101584891 . G . . NT END=101587451;NT GT ./. 2 101587537 . G . . NT END=101591264;NT GT ./. 2 101591407 . G . . NT END=101591919;NT GT ./. 2 101592030 . G . . NT END=101594171;NT GT ./. 2 101594262 . G . . NT END=101598692;NT GT ./. 2 101598494 rs6719037 T C 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.008387,C/0.9916;Gene=NPAS2/NM_002518.3/1;CC=c.1483-199T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:399:45.62:45.62:0.00:1.00:1.00:0.00:60:52.0:0:0:52:99:37:NM_002518.3(NPAS2) c.1483-199T>C,NM_002518.3(NPAS2) c.1483-199T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 101598840 . G . . NT END=101604540;NT GT ./. 2 101604739 . G . . NT END=101606717;NT GT ./. 2 101606511 rs6726870 A G 47 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4621,G/0.5379;Gene=NPAS2/NM_002518.3/1;CC=c.1828-207A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:414:47.12:47.12:0.00:1.00:1.00:0.00:60:36.8:0:0:37:112:22:NM_002518.3(NPAS2) c.1828-207A>G,NM_002518.3(NPAS2) c.1828-207A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 2 101606909 . G . . NT END=101607241;NT GT ./. 2 101607335 . G . . NT END=101609808;NT GT ./. 2 101609827 rs9223 C T 122 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.7472,T/0.2528;Gene=NPAS2/NM_002518.3/1;CC=c.2130C>T;ProtCh=p.T710=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:90:77:0:0:51,39:1570,1304:0.00,122.24:0.00,83.20:0.00,39.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,43.7:0,0:0,0:67,76:83,66:36,23:-,NM_002518.3(NPAS2) c.2130C>T (p.(=)):-,0.25:-,0.246425 2 101609990 . G . . NT END=101611861;NT GT ./. 2 101612051 rs2305158 G A 225 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.8251,A/0.1749;PC=0.067;Gene=NPAS2/NM_002518.3/1;CC=c.*7G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:151:99:0:0:74,75,2:2343,2210,21:224.80,0.00,-0.14:113.67,0.00,-0.22:111.13,0.00,0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.5,13.5,116.0:0,0,0:0,0,0:68,56,96:82,92,50:36,28,38:NM_002518.3(NPAS2) c.*7G>A,-:0.21,-:0.217933,- 2 101612413 . C . . NT END=101619163;NT GT ./. 2 101612568 rs3739008 C T 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.7594,T/0.2406;PC=1.000;Gene=NPAS2/NM_002518.3/1;CC=c.*524C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:0:0:0:21,14:636,356:0.00,31.96:0.00,0.00:0.00,31.96:0.00,1.00:0.00,0.00:0.00,1.00:60,60:22.9,91.1:0,0:0,0:123,116:28,34:24,23:-,NM_002518.3(NPAS2) c.*524C>T:-,0.24:-,NOT_FOUND 2 101612584 rs1053095 T A 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6867,A/0.3133;Gene=NPAS2/NM_002518.3/1;CC=c.*540T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:0:0:0:13,14:376,419:35.69,0.00:0.00,0.00:35.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:92.6,42.8:0,0:0,0:128,71:23,79:22,33:NM_002518.3(NPAS2) c.*540T>A,-:0.32,-:NOT_FOUND,- 2 101612615 rs1053096 T C 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4667,C/0.5333;Gene=NPAS2/NM_002518.3/1;CC=c.*571T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:597:68.67:0.00:68.67:1.00:0.00:1.00:60:68.3:0:0:106:45:28:NM_002518.3(NPAS2) c.*571T>C,NM_002518.3(NPAS2) c.*571T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 2 101619271 . G . . NT END=101620619;NT GT ./. 2 101619283 rs2278724 C G 181 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.1703,G/0.8297;PC=0.001;Gene=RPL31/NM_000993.4/0;CC=c.107+13C>G;VC=Intron;Gene=RPL31/NM_001099693.1/0;CC=c.107+13C>G;VC=Intron;Gene=RPL31/NM_001098577.2/1;CC=c.107+13C>G;VC=Intron;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:G,T:50:20:0:0:49,1:1579,22:180.73,1.02:41.64,1.02:139.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.0,76.0:0,0:0,0:93,150:58,1:29,0:NM_001098577.2(RPL31) c.107+13C>G,NM_001098577.2(RPL31) c.107+13C>G:0.85,0.85:0.858604,0.858604 2 101619321 rs2278723 T C 155 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.4633,C/0.5367;PC=0.001;Gene=RPL31/NM_000993.4/0;CC=c.107+51T>C;VC=Intron;Gene=RPL31/NM_001099693.1/0;CC=c.107+51T>C;VC=Intron;Gene=RPL31/NM_001098577.2/1;CC=c.107+51T>C;VC=Intron;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:6:0:0:41:1355:155.02:14.83:140.19:1.00:1.00:1.00:60:70.5:0:0:98:53:29:NM_001098577.2(RPL31) c.107+51T>C,NM_001098577.2(RPL31) c.107+51T>C:0.56,0.56:0.636706,0.636706 2 101620746 . G . . NT END=101622420;NT GT ./. 2 101620856 rs397985322 TA T 54 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=TA/0.7185,T/0.2815;DB;DBA=NA;PAF=TA/0.7185,T/0.2815;NP=334;PC=0.003;Gene=RPL31/NM_000993.4/0;CC=c.233+123delA;VC=Intron;Gene=RPL31/NM_001099693.1/0;CC=c.233+123delA;VC=Intron;Gene=RPL31/NM_001098577.2/1;CC=c.233+123delA;VC=Intron;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;DM=RPL31/Ribosomal_L31e;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:31:1:3:19:11,3,17:319,84,575:0.00,6.29,54.02:0.00,-0.04,-0.33:0.00,6.34,54.35:0.00,0.00,1.00:0.00,0.00,0.69:0.00,0.00,1.00:60,60,60:13.9,43.0,1.4:0,0,1:0,0,0:130,113,106:20,38,43:17,13,20:-,NM_001098577.2(RPL31) c.233+112delA:-,NOT_FOUND:-,NOT_FOUND 2 101622696 rs397743925 T TG 121 PASS VT=INS;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.846,TG/0.154;DB;DBA=NA;PAF=T/0.846,TG/0.154;NP=860;Gene=RPL31/NM_000993.4/0;CC=c.347-113dupG;VC=Intron;Gene=RPL31/NM_001099693.1/0;CC=c.*146dupG;VC=3UTR;Gene=RPL31/NM_001098577.2/1;CC=c.346+166dupG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:78:45:40:0:38,40:1269,1258:0.00,121.41:0.00,52.01:0.00,69.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.0,1.2:0,0:0,0:85,60:61,87:37,31:-,NM_001098577.2(RPL31) c.346+163_346+164insG:-,0.2:-,NOT_FOUND 2 101622728 rs10934 C T 102 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.764,T/0.236;Gene=RPL31/NM_000993.4/0;CC=c.347-84C>T;VC=Intron;Gene=RPL31/NM_001099693.1/0;CC=c.*175C>T;VC=3UTR;Gene=RPL31/NM_001098577.2/1;CC=c.346+195C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:38:0:0:40,34:1327,1079:0.00,101.94:0.00,34.49:0.00,67.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,36.6:0,0:0,0:78,93:72,56:29,25:-,NM_001098577.2(RPL31) c.346+195C>T:-,0.23:-,0.242225 2 101622886 . T . . NT END=101624282;NT GT ./. 2 101624471 rs746924 T C 629 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=169;DB;DBA=NA;PAF=T/0.4856,C/0.5144;PC=0.845;Gene=RPL31/NM_001098577.2/1;CC=c.346+1938T>C;VC=Intron;Gene=TBC1D8/NM_001102426.1/1;CC=c.3235A>G;ProtCh=p.R1079G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:169:131:0:0:169:5481:628.53:402.00:226.53:1.00:1.00:1.00:60:42.7:0:0:63:85:33:NM_001102426.1(TBC1D8) c.3235A>G (p.Arg1079Gly),NM_001102426.1(TBC1D8) c.3235A>G (p.Arg1079Gly):0.54,0.54:0.620865,0.620865 2 101624736 . C . . NT END=101627390;NT GT ./. 2 101624786 rs200543793 AT A 12 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=3;Gene=RPL31/NM_001098577.2/1;CC=c.346+2264delT;VC=Intron;Gene=TBC1D8/NM_001102426.1/1;CC=c.2971-52delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AT,T,I,A:45:10:4:5:35,1,4,5:1117,10,134,160:0.00,-0.14,9.69,11.83:0.00,-0.04,4.08,1.26:0.00,-0.10,5.61,10.57:0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.97:60,60,60,60:7.9,41.0,0.0,25.2:0,0,0,0:0,0,0,0:97,132,96,111:53,19,54,39:31,0,6,11:-,NM_001098577.2(RPL31) c.346+2254delT:-,NOT_FOUND:-,0.078273 2 101627343 rs398042542 CA C 43 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=CA/0.6264,C/0.3736;DB;DBA=NA;PAF=CA/0.6264,C/0.3736;NP=135;PC=0.111;Gene=RPL31/NM_001098577.2/1;CC=c.346+4826delA;VC=Intron;Gene=TBC1D8/NM_001102426.1/1;CC=c.2970+47delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:41:42:4:21:1,21,4,15:11,708,130,600:0.04,0.00,9.86,43.00:-0.17,0.00,8.64,40.51:0.21,0.00,1.22,2.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.96:60,60,60,60:11.0,37.4,2.5,30.8:0,1,0,4:0,0,0,0:0,44,80,63:151,98,70,85:0,35,34,32:-,NM_001098577.2(RPL31) c.346+4811delA:-,NOT_FOUND:-,NOT_FOUND 2 101627489 . C . . NT END=101627912;NT GT ./. 2 101627852 rs1062059 C T 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.8464,T/0.1536;Gene=RPL31/NM_001098577.2/1;CC=c.346+5319C>T;VC=Intron;Gene=TBC1D8/NM_001102426.1/1;CC=c.2872+61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:60:54:0:0:32,1,27:971,7,925:0.00,-0.16,87.74:0.00,-0.09,74.67:0.00,-0.07,13.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.3,60.0,39.9:0,0,0:0,0,0:63,130,77:88,19,74:34,0,35:-,NM_001098577.2(RPL31) c.346+5319C>T:-,0.2:-,NOT_FOUND 2 101628003 . C . . NT END=101638142;NT GT ./. 2 101638209 . C . . NT END=101638742;NT GT ./. 2 101638888 rs3739014 A G 633 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=172;DB;DBA=NA;PAF=A/0.473,G/0.527;Gene=TBC1D8/NM_001102426.1/1;CC=c.2571T>C;ProtCh=p.D857=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:172:117:0:0:171,1:5521,13:633.02,0.13:295.08,0.13:337.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,163.0:0,0:0,0:66,92:77,59:33,0:NM_001102426.1(TBC1D8) c.2571T>C (p.(=)),NM_001102426.1(TBC1D8) c.2571T>C (p.(=)):0.55,0.55:0.638795,0.638795 2 101638984 . C . . NT END=101643844;NT GT ./. 2 101643914 . C . . NT END=101644509;NT GT ./. 2 101644609 . C . . NT END=101644764;NT GT ./. 2 101644855 rs11683877 G A 226 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.7847,A/0.2153,C/.;PC=0.945;Gene=TBC1D8/NM_001102426.1/1;CC=c.2217C>T;ProtCh=p.P739=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:152:106:0:0:73,79:2374,2541:226.48,0.00:108.12,0.00:118.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,7.5:0,0:0,0:59,72:89,78:30,43:NM_001102426.1(TBC1D8) c.2217C>T (p.(=)),-:0.2,-:0.220372,- 2 101644895 . C . . NT END=101645952;NT GT ./. 2 101645856 rs535863961 T TA 67 idl,rn VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.008;Gene=TBC1D8/NM_001102426.1/1;CC=c.2177+96_2177+97insT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,TA,D:51:59:29:7:2,1,22,22,4:44,10,585,914,210:2.35,-0.00,0.00,66.61,8.05:2.08,-0.00,0.00,59.08,8.05:0.27,0.00,0.00,7.53,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.88,0.00:60,60,60,60,60:68.0,22.0,18.6,19.5,51.2:2,0,1,7,3:0,0,0,0,0:58,80,32,32,45:84,26,118,119,105:38,0,29,22,27:-,NM_001102426.1(TBC1D8) c.2177+96_2177+97insT:-,NOT_FOUND:-,NOT_FOUND 2 101646144 rs3739015 G A 129 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.8381,A/0.1619;PC=0.295;Gene=TBC1D8/NM_001102426.1/1;CC=c.1986C>T;ProtCh=p.S662=;VC=Silent;DM=TBC1D8/RabGAP-TBC;DM=TBC1D8/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:122:68:0:0:43,79:1433,2421:129.46,0.00:54.20,0.00:75.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.5,10.5:0,0:0,0:76,90:75,61:18,42:NM_001102426.1(TBC1D8) c.1986C>T (p.(=)),-:0.21,-:0.188891,- 2 101646239 . C . . NT END=101648729;NT GT ./. 2 101646359 rs12472882 G C 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.755,C/0.245;Gene=TBC1D8/NM_001102426.1/1;CC=c.1892-121C>G;VC=Intron;DM=TBC1D8/RabGAP-TBC;DM=TBC1D8/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:34:3:0:0:1,15,17,1:9,500,494,10:-0.02,47.54,0.00,0.03:-0.01,3.55,0.00,-0.01:-0.01,43.99,0.00,0.03:0.00,1.00,0.00,0.00:0.00,0.84,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:187.0,36.1,5.8,49.0:0,0,0,0:0,0,0,0:116,132,82,96:35,19,69,53:0,18,36,0:NM_001102426.1(TBC1D8) c.1892-121C>G,-:0.23,-:NOT_FOUND,- 2 101648848 . C . . NT END=101650005;NT GT ./. 2 101650221 . C . . NT END=101652479;NT GT ./. 2 101652631 . C . . NT END=101653993;NT GT ./. 2 101652732 rs4850957 C T 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7768,T/0.2232;Gene=TBC1D8/NM_001102426.1/1;CC=c.1408-102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:6:0:0:23,18:690,583:0.00,54.67:0.00,2.97:0.00,51.71:0.00,1.00:0.00,0.96:0.00,1.00:60,60:16.5,58.4:0,0:0,0:111,113:39,36:20,30:-,NM_001102426.1(TBC1D8) c.1408-102G>A:-,0.22:-,NOT_FOUND 2 101652797 rs6543005 T C 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1811,C/0.8189;Gene=TBC1D8/NM_001102426.1/1;CC=c.1408-167A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:0:0:0:17:518:59.90:0.00:59.90:1.00:0.00:1.00:60:64.8:0:0:115:36:25:NM_001102426.1(TBC1D8) c.1408-167A>G,NM_001102426.1(TBC1D8) c.1408-167A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 101654171 . C . . NT END=101654922;NT GT ./. 2 101655118 . C . . NT END=101656639;NT GT ./. 2 101655244 rs62152953 C T 81 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.9822,T/0.01777;Gene=TBC1D8/NM_001102426.1/1;CC=c.1036-127G>A;VC=Intron;DM=TBC1D8/GRAM;DM=TBC1D8/GRAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:1:0:0:18,25:496,819:0.00,81.19:0.00,3.34:0.00,77.85:0.00,1.00:0.00,0.72:0.00,1.00:60,60:14.9,38.6:0,0:0,0:106,118:44,33:24,20:-,NM_001102426.1(TBC1D8) c.1036-127G>A:-,0.03:-,NOT_FOUND 2 101656726 rs2289953 T C 670 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=T/0.5144,C/0.4856;Gene=TBC1D8/NM_001102426.1/1;CC=c.949A>G;ProtCh=p.T317A;VC=Missense;DM=TBC1D8/GRAM;DM=TBC1D8/GRAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:187:147:0:0:2,185:24,5843:0.35,670.49:0.00,416.06:0.35,254.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:84.0,38.3:0,0:0,0:71,68:79,78:51,31:NM_001102426.1(TBC1D8) c.949A>G (p.Thr317Ala),NM_001102426.1(TBC1D8) c.949A>G (p.Thr317Ala):0.51,0.51:0.586789,0.586789 2 101656848 . C . . NT END=101666862;NT GT ./. 2 101667104 . C . . NT END=101670569;NT GT ./. 2 101670799 . C . . NT END=101675882;NT GT ./. 2 101670928 rs9677214 C A 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.6514,A/0.3486;Gene=TBC1D8/NM_001102426.1/1;CC=c.358-130G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:1:0:0:14,19:414,585:38.31,0.00:-0.24,0.00:38.55,0.00:1.00,0.00:0.62,0.00:1.00,0.00:60,60:49.4,65.6:0,0:0,0:91,91:59,60:26,27:NM_001102426.1(TBC1D8) c.358-130G>T,-:0.36,-:NOT_FOUND,- 2 101670937 rs11675221 C T 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7823,T/0.2177;Gene=TBC1D8/NM_001102426.1/1;CC=c.358-139G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:1:0:0:13,18:366,567:0.00,56.20:0.00,3.54:0.00,52.66:0.00,1.00:0.00,0.72:0.00,1.00:60,60:49.0,69.2:0,0:0,0:100,100:51,51:21,23:-,NM_001102426.1(TBC1D8) c.358-139G>A:-,0.22:-,NOT_FOUND 2 101670955 rs11675224 C T 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7825,T/0.2175;PC=0.001;Gene=TBC1D8/NM_001102426.1/1;CC=c.358-157G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:1:0:0:11,17:273,521:0.00,52.17:0.00,3.56:0.00,48.61:0.00,1.00:0.00,0.74:0.00,1.00:60,60:49.1,71.4:0,0:0,0:100,115:51,36:19,23:-,NM_001102426.1(TBC1D8) c.358-157G>A:-,0.22:-,NOT_FOUND 2 101675673 rs142846099 CTT C 10 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.565;Gene=TBC1D8/NM_001102426.1/1;CC=c.357+208_357+209delAA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:CTT,C:5:8:0:7:2,3:60,228:0.00,9.55:0.00,8.02:0.00,1.52:0.00,0.96:0.00,0.94:0.00,0.63:60,60:0.0,14.7:0,4:0,0:128,53:12,98:18,40:-,NM_001102426.1(TBC1D8) c.357+208_357+209delAA:-,NOT_FOUND:-,NOT_FOUND 2 101675808 rs7572457 A G 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7286,G/0.2714;Gene=TBC1D8/NM_001102426.1/1;CC=c.357+75T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:15:0:0:6,9:196,307:0.00,30.61:0.00,30.81:0.00,-0.20:0.00,1.00:0.00,1.00:0.00,0.73:60,60:0.0,37.9:0,0:0,0:28,53:122,98:21,46:-,NM_001102426.1(TBC1D8) c.357+75T>C:-,0.27:-,NOT_FOUND 2 101676002 . C . . NT END=101706670;NT GT ./. 2 101684871 rs1374322 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5635,A/0.4365;PC=0.959;Gene=TBC1D8/NM_001102426.1/1;CC=c.239-8870C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:4:0:0:3,1:104,32:10.85,0.00:10.85,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:46.0,0.0:0,0:0,0:94,36:56,115:45,0:NM_001102426.1(TBC1D8) c.239-8870C>T,-:0.41,-:NOT_FOUND,- 2 101684959 rs1374323 G A 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6176,A/0.3824;PC=1.000;Gene=TBC1D8/NM_001102426.1/1;CC=c.239-8958C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:6:5:0:0:4,2:107,70:10.91,0.00:7.51,0.00:3.40,0.00:0.93,0.00:0.99,0.00:0.78,0.00:60,60:89.5,0.0:0,0:0,0:50,67:100,83:31,57:NM_001102426.1(TBC1D8) c.239-8958C>T,-:0.37,-:NOT_FOUND,- 2 101706382 rs561191361 GT G 11 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=185;PC=0.077;Gene=TBC1D8/NM_001102426.1/1;CC=c.238+333delA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:GT,G:7:9:0:6:3,4:99,167:0.00,11.13:0.00,11.13:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,70:63.3,81.0:2,2:0,0:13,34:136,115:3,30:-,NM_001102426.1(TBC1D8) c.238+333delA:-,NOT_FOUND:-,NOT_FOUND 2 101706387 rs796068 T A 13 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=267;PC=0.002;Gene=TBC1D8/NM_001102426.1/1;CC=c.238+329A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,T:7:7:0:2:4,3:130,65:12.85,0.00:12.85,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:70,60:97.2,26.3:3,3:0,0:13,84:136,67:5,43:NM_001102426.1(TBC1D8) c.238+329A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 101706827 . C . . NT END=101726296;NT GT ./. 2 101707009 rs796067 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3602,T/0.6398;Gene=TBC1D8/NM_001102426.1/1;CC=c.128-183G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:8,10:223,265:0.00,25.85:0.00,0.00:0.00,25.85:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.1,96.1:0,0:0,0:115,110:36,39:15,23:-,NM_001102426.1(TBC1D8) c.128-183G>A:-,0.64:-,NOT_FOUND 2 101726427 rs6709184 T C 675 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=177;DB;DBA=NA;PAF=T/0.1484,C/0.8516;PC=0.001;Gene=TBC1D8/NM_001102426.1/1;CC=c.128-19601A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:177:111:0:0:177:5905:674.79:272.10:402.69:1.00:1.00:1.00:60:40.7:0:0:87:61:34:NM_001102426.1(TBC1D8) c.128-19601A>G,NM_001102426.1(TBC1D8) c.128-19601A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 101726445 . A . . NT END=101767588;NT GT ./. 2 101726770 rs62155205 A G 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8399,G/0.1601;Gene=TBC1D8/NM_001102426.1/1;CC=c.128-19944T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:7:0:0:0:2,5:63,148:0.00,15.33:0.00,0.00:0.00,15.33:0.00,0.98:0.00,0.00:0.00,0.98:60,60:14.5,39.0:0,0:0,0:80,120:70,31:55,17:-,NM_001102426.1(TBC1D8) c.128-19944T>C:-,0.19:-,NOT_FOUND 2 101767716 . c . . NT END=101869426;NT GT ./. 2 101767893 rs190367292 C A 94 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.8974,A/0.1026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:58:1:0:0:32,25,1:960,663,13:94.30,0.00,0.11:1.81,0.00,0.00:92.49,0.00,0.11:1.00,0.00,0.00:0.70,0.00,0.00:1.00,0.00,0.00:60,60,60:55.9,19.5,77.0:0,0,0:0,0,0:107,87,33:40,64,118:30,37,0:NM_001102426.1(TBC1D8) c.-131-u47G>T,-:0.17,-:NOT_FOUND,- 2 101767957 rs192658911 T G 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.4898,G/0.5102;PC=0.032 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:35:0:0:0:20,15:581,442:57.22,0.00:0.00,0.00:57.22,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:76.4,27.7:0,0:0,0:93,100:39,51:27,33:NM_001102426.1(TBC1D8) c.-131-u111A>C,-:0.36,-:NOT_FOUND,- 2 101869588 rs2272320 G T 885 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=236;DB;DBA=NA;PAF=G/0.6212,A/.,T/0.3788;PC=0.323;Gene=CNOT11/NM_017546.4/1;CC=c.162G>T;ProtCh=p.P54=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:236:135:0:0:236:7724:884.67:348.08:536.59:1.00:1.00:1.00:60:38.7:0:0:86:56:34:NM_017546.4(C2orf29) c.162G>T (p.(=)),NM_017546.4(C2orf29) c.162G>T (p.(=)):0.42,0.42:0.346568,0.346568 2 101869941 . G . . NT END=101874252;NT GT ./. 2 101874418 . G . . NT END=101879000;NT GT ./. 2 101874442 rs6757365 C T 367 nt VT=SNV;PN=G;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.6032,T/0.3968;PC=0.001;Gene=CNOT11/NM_017546.4/1;CC=c.679+25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:103:44:0:0:1,102:11,3193:0.13,367.24:0.13,93.53:0.00,273.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,35.3:0,0:0,0:142,95:9,53:0,34:NM_017546.4(C2orf29) c.679+25C>T,NM_017546.4(C2orf29) c.679+25C>T:0.43,0.43:0.370829,0.370829 2 101879154 . G . . NT END=101881306;NT GT ./. 2 101881510 . G . . NT END=101883138;NT GT ./. 2 101881549 rs3768995 A T 150 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.6022,T/0.3978;Gene=CNOT11/NM_017546.4/1;CC=c.1035+40A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:T:43:14:0:0:43:1297:149.95:30.62:119.34:1.00:1.00:1.00:60:43.7:0:0:113:29:22:NM_017546.4(C2orf29) c.1035+40A>T,NM_017546.4(C2orf29) c.1035+40A>T:0.42,0.42:0.349642,0.349642 2 101883342 . G . . NT END=101885501;NT GT ./. 2 101885599 . G . . NT END=101885677;NT GT ./. 2 101885876 . T . . NT END=101889435;NT GT ./. 2 101889306 rs750783 A G 100 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.5937,G/0.4063 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G,T:27:27:0:0:26,1:883,9:100.27,0.24:94.23,0.24:6.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.7,60.0:0,0:0,0:64,17:86,134:38,0:chr2 g.101889305A>G (intergenic),chr2 g.101889305A>G (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 2 101889558 . C . . NT END=101892181;NT GT ./. 2 101892138 rs13017536 C T 90 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.612,T/0.388;PC=0.037;Gene=RNF149/NM_173647.3/1;CC=c.*1562G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:24:0:0:25:783:90.18:86.65:3.53:1.00:1.00:1.00:60:31.6:0:0:39:111:24:NM_173647.3(RNF149) c.*1562G>A,NM_173647.3(RNF149) c.*1562G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 2 101893744 . C . . NT END=101898264;NT GT ./. 2 101893966 rs34632783 TC T 54 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=TC/0.8698,T/0.1302;NP=20;PC=0.004;Gene=RNF149/NM_173647.3/1;CC=c.1160-224delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:0:0:15:15:468:53.94:0.00:53.94:1.00:0.00:1.00:60:6.9:0:0:84:66:41:NM_173647.3(RNF149) c.1160-224delG,NM_173647.3(RNF149) c.1160-224delG:0.14,0.14:NOT_FOUND,NOT_FOUND 2 101898412 rs13151 G C 379 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.154,C/0.846;Gene=RNF149/NM_173647.3/1;CC=c.1068C>G;ProtCh=p.D356E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:102:67:0:0:102:3309:379.32:195.28:184.04:1.00:1.00:1.00:60:39.5:0:0:76:74:32:NM_173647.3(RNF149) c.1068C>G (p.Asp356Glu),NM_173647.3(RNF149) c.1068C>G (p.Asp356Glu):0.86,0.86:0.80632,0.80632 2 101898520 . C . . NT END=101902542;NT GT ./. 2 101902640 . C . . NT END=101905434;NT GT ./. 2 101905518 . C . . NT END=101910475;NT GT ./. 2 101910545 . C . . NT END=101911392;NT GT ./. 2 101910565 . TAC T 35 nt VT=DEL;SST=Single;DP=22;PC=0.177;Gene=RNF149/NM_173647.3/1;CC=c.712-23_712-22delGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAC,T:22:12:0:11:11,11:348,361:0.00,34.73:0.00,16.33:0.00,18.40:0.00,1.00:0.00,0.98:0.00,1.00:60,60:4.6,0.0:0,0:0,0:136,81:14,65:11,25:-,NM_173647.3(RNF149) c.712-23_712-22delGT:-,NOT_FOUND:-,0.00008 2 101911292 rs17190139 G A 53 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.973,A/0.02696;Gene=RNF149/NM_173647.3/1;CC=c.711+101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:32:0:0:18,14:536,389:52.70,0.00:49.31,0.00:3.40,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:48.9,39.6:0,0:0,0:49,28:101,110:41,21:NM_173647.3(RNF149) c.711+101C>T,-:0.04,-:NOT_FOUND,- 2 101911385 rs3828194 A G 214 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.5954,G/0.4046;Gene=RNF149/NM_173647.3/1;CC=c.711+8T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:G:64:58:0:0:64:1841:214.03:172.08:41.95:1.00:1.00:1.00:60:42.2:0:0:46:100:27:NM_173647.3(RNF149) c.711+8T>C,NM_173647.3(RNF149) c.711+8T>C:0.43,0.43:0.377749,0.377749 2 101911644 . C . . NT END=101924302;NT GT ./. 2 101924549 . C . . NT END=101924590;NT GT ./. 2 101925051 . G . . NT END=101967384;NT GT ./. 2 101967346 rs6543032 C T 141 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.3339,A/.,G/.,T/0.6661;PC=0.005;Gene=CREG2/NM_153836.3/1;CC=c.*39G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:33:0:0:38:1229:141.02:95.29:45.72:1.00:1.00:1.00:60:41.6:0:0:39:101:22:NM_153836.3(CREG2) c.*39G>A,NM_153836.3(CREG2) c.*39G>A:0.68,0.68:0.661925,0.661925 2 101967506 rs149973647 C T 80 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.958;Gene=CREG2/NM_153836.3/1;CC=c.752G>A;ProtCh=p.R251H;VC=Missense;DM=CREG2/Pyrid_oxidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:33:0:0:27,25:830,842:0.00,80.50:0.00,34.06:0.00,46.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,41.0:0,0:0,0:93,73:43,68:33,25:-,NM_153836.3(CREG2) c.752G>A (p.Arg251His):-,NOT_FOUND:-,0.000231 2 101967533 . C . . NT END=101971714;NT GT ./. 2 101971618 rs6753727 T C 63 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5487,C/0.4513;Gene=CREG2/NM_153836.3/1;CC=c.725+97A>G;VC=Intron;DM=CREG2/Pyrid_oxidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:541:62.63:62.63:0.00:1.00:1.00:0.00:60:37.4:0:0:70:81:42:NM_153836.3(CREG2) c.725+97A>G,NM_153836.3(CREG2) c.725+97A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 101971829 . C . . NT END=101998899;NT GT ./. 2 101998889 rs397777427 GA G 30 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=GA/0.4381,G/0.5619;DB;DBA=NA;PAF=GA/0.4381,G/0.5619;NP=168;PC=0.001;Gene=CREG2/NM_153836.3/1;CC=c.611+1105delT;VC=Intron;DM=CREG2/Pyrid_oxidase_2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:GA,I,G:19:23:2:16:7,2,10:209,63,437:0.00,4.86,30.31:0.00,4.90,25.33:0.00,-0.04,4.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.94:60,60,60:17.9,9.0,21.5:0,0,4:0,0,0:45,18,59:106,133,86:44,8,20:-,NM_153836.3(CREG2) c.611+1105delT:-,NOT_FOUND:-,NOT_FOUND 2 101999408 . C . . NT END=101999994;NT GT ./. 2 101999543 . C T 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;PC=0.005;Gene=CREG2/NM_153836.3/1;CC=c.611+452G>A;VC=Intron;DM=CREG2/Pyrid_oxidase_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:16:0:0:21,24:641,679:0.00,65.76:0.00,21.93:0.00,43.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,31.7:0,0:0,0:108,120:43,30:20,22:-,NM_153836.3(CREG2) c.611+452G>A:-,NOT_FOUND:-,NOT_FOUND 2 102000165 . C . . NT END=102003478;NT GT ./. 2 102003920 . C . . NT END=102014009;NT GT ./. 2 102014187 . C . . NT END=102018897;NT GT ./. 2 102018620 rs4430974 A T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5775,T/0.4225;Gene=RFX8/NM_001145664.1/1;CC=c.1245+278T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:164:18.78:18.78:0.00:1.00:1.00:0.00:60:32.8:0:0:13:138:12:NM_001145664.1(RFX8) c.1245+278T>A,NM_001145664.1(RFX8) c.1245+278T>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 102018908 rs2175968 A G 235 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.5475,G/0.4525;PC=0.816;Gene=RFX8/NM_001145664.1/1;CC=c.1235T>C;ProtCh=p.M412T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:G:65:58:0:0:65:2040:234.73:164.85:69.88:1.00:1.00:1.00:60:39.2:0:0:49:96:28:NM_001145664.1(RFX8) c.1235T>C (p.Met412Thr),NM_001145664.1(RFX8) c.1235T>C (p.Met412Thr):0.48,0.48:0.512265,0.512265 2 102019215 . C . . NT END=102022404;NT GT ./. 2 102022520 . C . . NT END=102027080;NT GT ./. 2 102026879 rs72825067 A ACACT 20 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=21;NP=36;PC=0.001;Gene=RFX8/NM_001145664.1/1;CC=c.813+201_813+202insAGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:ACACT:6:6:7:0:6:214:20.46:11.83:8.62:1.00:1.00:1.00:70:26.0:1:0:70:80:24:NM_001145664.1(RFX8) c.813+201_813+202insAGTG,NM_001145664.1(RFX8) c.813+201_813+202insAGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 102027176 . C . . NT END=102029376;NT GT ./. 2 102029534 . C . . NT END=102031315;NT GT ./. 2 102029739 rs7603471 G A 28 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.391,A/0.609;Gene=RFX8/NM_001145664.1/1;CC=c.562-206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:1:0:0:8:242:28.01:1.99:26.02:1.00:1.00:1.00:60:60.4:0:0:119:31:28:NM_001145664.1(RFX8) c.562-206C>T,NM_001145664.1(RFX8) c.562-206C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 2 102031176 rs4851434 A G 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.0621,G/0.9379;Gene=RFX8/NM_001145664.1/1;CC=c.561+140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:15:0:0:15:482:55.33:55.33:0.00:1.00:1.00:0.00:60:37.5:0:0:42:109:23:NM_001145664.1(RFX8) c.561+140T>C,NM_001145664.1(RFX8) c.561+140T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 2 102031375 . C . . NT END=102033995;NT GT ./. 2 102031489 rs4851435 C G 39 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3928,G/0.6072;PC=0.009;Gene=RFX8/NM_001145664.1/1;CC=c.503-115G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:1:0:0:11:342:39.43:1.94:37.49:1.00:1.00:1.00:60:36.9:0:0:83:68:44:NM_001145664.1(RFX8) c.503-115G>C,NM_001145664.1(RFX8) c.503-115G>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 102033851 rs11397297 T TA 68 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.04692,TA/0.9531;NP=869;PC=0.052;Gene=RFX8/NM_001145664.1/1;CC=c.502+144_502+145insT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:TA:19:19:19:0:19:590:68.05:68.05:0.00:1.00:1.00:0.00:60:37.9:0:0:69:80:27:NM_001145664.1(RFX8) c.502+144_502+145insT,NM_001145664.1(RFX8) c.502+144_502+145insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 102033867 rs6761866 T C 86 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.09185,C/0.9081;PC=0.182;Gene=RFX8/NM_001145664.1/1;CC=c.502+129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:24:0:0:24:745:85.93:82.00:3.93:1.00:1.00:1.00:70:39.9:0:0:43:106:32:NM_001145664.1(RFX8) c.502+129A>G,NM_001145664.1(RFX8) c.502+129A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 102034147 . C . . NT END=102035312;NT GT ./. 2 102035192 rs6709913 C T 8 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2913,T/0.7087;Gene=RFX8/NM_001145664.1/1;CC=c.351+121G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,T:10:10:0:0:7,3:220,96:0.00,8.38:0.00,8.38:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:11.9,32.0:0,0:0,0:62,145:87,5:31,2:-,NM_001145664.1(RFX8) c.351+121G>A:-,0.7:-,NOT_FOUND 2 102035427 . C . . NT END=102037701;NT GT ./. 2 102038240 . C . . NT END=102038823;NT GT ./. 2 102038849 rs4851436 T A 124 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.09804,A/0.902;PC=1.000;Gene=RFX8/NM_001145664.1/1;CC=c.158A>T;ProtCh=p.Q53L;VC=Missense;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:26:0:0:32:1085:123.74:72.09:51.65:1.00:1.00:1.00:60:37.3:0:0:32:104:18:NM_001145664.1(RFX8) c.=,NM_001145664.1(RFX8) c.=:0.89,0.89:0.947657,0.947657 2 102038935 . C . . NT END=102045417;NT GT ./. 2 102045328 rs6543047 C T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5919,A/.,T/0.4081;Gene=RFX8/NM_001145664.1/1;CC=c.73-6394G>A;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:8:0:0:8:220:25.72:25.72:0.00:1.00:1.00:0.00:60:28.6:0:0:74:76:36:NM_001145664.1(RFX8) c.73-6394G>A,NM_001145664.1(RFX8) c.73-6394G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 2 102045482 . C . . NT END=102067055;NT GT ./. 2 102066744 rs3903293 G A 16 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3039,A/0.6961;Gene=RFX8/NM_001145664.1/1;CC=c.72+16495C>T;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:140:16.36:14.37:1.99:1.00:1.00:1.00:60:48.4:0:0:74:76:43:NM_001145664.1(RFX8) c.72+16495C>T,NM_001145664.1(RFX8) c.72+16495C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 2 102066808 rs3898719 C T 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9694,T/0.03055;PC=0.012;Gene=RFX8/NM_001145664.1/1;CC=c.72+16431G>A;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:3:0:0:2,2:68,66:0.00,6.35:0.00,6.65:0.00,-0.30:0.00,0.51:0.00,0.89:0.00,0.67:60,60:34.5,67.5:0,0:0,0:126,116:25,34:24,21:-,NM_001145664.1(RFX8) c.72+16431G>A:-,0.05:-,NOT_FOUND 2 102067083 rs7585228 T C 104 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.3039,C/0.6961;PC=1.000;Gene=RFX8/NM_001145664.1/1;CC=c.72+16156A>G;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:19:0:0:28:910:104.26:53.77:50.49:1.00:1.00:1.00:60:42.7:0:0:52:80:28:NM_001145664.1(RFX8) c.72+16156A>G,NM_001145664.1(RFX8) c.72+16156A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 2 102067143 . C . . NT END=102068846;NT GT ./. 2 102068715 rs11123884 C G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6595,G/0.3405;Gene=RFX8/NM_001145664.1/1;CC=c.72+14524G>C;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,G:9:9:0:0:5,4:146,127:0.00,11.94:0.00,11.94:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,31.8:0,0:0,0:36,66:115,84:36,5:-,NM_001145664.1(RFX8) c.72+14524G>C:-,0.31:-,NOT_FOUND 2 102068872 rs4851449 T A 50 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6659,A/0.3341;PC=0.992;Gene=RFX8/NM_001145664.1/1;CC=c.72+14367A>T;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:37:24:0:0:17,20:530,656:50.00,0.00:16.68,0.00:33.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,3.8:0,0:0,0:58,71:88,80:28,27:NM_001145664.1(RFX8) c.72+14367A>T,-:0.3,-:NOT_FOUND,- 2 102068909 . C . . NT END=102083238;NT GT ./. 2 102069002 rs4851450 T C 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6595,C/0.3405;Gene=RFX8/NM_001145664.1/1;CC=c.72+14237A>G;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:C,T:13:5:0:0:3,10:100,318:8.38,0.00:4.69,0.00:3.69,0.00:0.58,0.00:0.72,0.00:0.92,0.00:60,60:55.3,3.3:0,0:0,0:138,83:12,67:6,42:NM_001145664.1(RFX8) c.72+14237A>G,-:0.31,-:NOT_FOUND,- 2 102083183 rs4851455 T C 132 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4762,C/0.5238;Gene=RFX8/NM_001145664.1/1;CC=c.72+56A>G;VC=Intron;DM=RFX8/RFX_DNA_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C:36:32:0:0:36:1148:131.96:96.56:35.39:1.00:1.00:1.00:60:42.1:0:0:38:109:21:NM_001145664.1(RFX8) c.72+56A>G,NM_001145664.1(RFX8) c.72+56A>G:0.52,0.52:0.567674,0.567674 2 102083311 . G . . NT END=102314542;NT GT ./. 2 102244947 rs10194514 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2332,C/0.7668 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:133:15.21:11.63:3.58:1.00:1.00:1.00:58:49.0:0:0:101:49:28:chr2 g.102244946T>C (intergenic),chr2 g.102244946T>C (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 2 102314601 . t . . NT END=102314934;NT GT ./. 2 102315002 . T . . NT END=102407181;NT GT ./. 2 102407240 . T . . NT END=102413700;NT GT ./. 2 102413846 . G . . NT END=102440389;NT GT ./. 2 102440517 . T . . NT END=102441780;NT GT ./. 2 102440583 . T G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;NP=4;PC=0.497;Gene=MAP4K4/NM_001242560.1/1;CC=c.306+68T>G;VC=Intron;Gene=MAP4K4/NM_004834.4/0;CC=c.306+68T>G;VC=Intron;Gene=MAP4K4/NM_145686.3/0;CC=c.306+68T>G;VC=Intron;Gene=MAP4K4/NM_001242559.1/0;CC=c.306+68T>G;VC=Intron;Gene=MAP4K4/NM_145687.3/0;CC=c.306+68T>G;VC=Intron;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,G,T:36:31:0:0:1,6,29:13,118,640:0.06,7.80,0.00:0.06,-1.60,0.00:-0.01,9.40,0.00:0.00,0.89,0.00:0.00,0.99,0.00:0.00,0.64,0.00:60,60,60:55.0,55.8,18.3:0,0,0:0,0,0:144,42,115:7,71,32:0,7,20:NM_145686.3(MAP4K4) c.306+68T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 102440589 . C G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;PC=0.109;Gene=MAP4K4/NM_001242560.1/1;CC=c.306+74C>G;VC=Intron;Gene=MAP4K4/NM_004834.4/0;CC=c.306+74C>G;VC=Intron;Gene=MAP4K4/NM_145686.3/0;CC=c.306+74C>G;VC=Intron;Gene=MAP4K4/NM_001242559.1/0;CC=c.306+74C>G;VC=Intron;Gene=MAP4K4/NM_145687.3/0;CC=c.306+74C>G;VC=Intron;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,G:36:30:0:0:30,6:817,124:0.00,8.28:0.00,-2.36:0.00,10.63:0.00,0.89:0.00,0.98:0.00,0.64:60,60:18.5,61.2:0,0:0,0:124,43:23,74:16,6:-,NM_145686.3(MAP4K4) c.306+74C>G:-,NOT_FOUND:-,NOT_FOUND 2 102440723 rs7601576 G A 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.03694,A/0.9631;Gene=MAP4K4/NM_001242560.1/1;CC=c.306+208G>A;VC=Intron;Gene=MAP4K4/NM_004834.4/0;CC=c.306+208G>A;VC=Intron;Gene=MAP4K4/NM_145686.3/0;CC=c.306+208G>A;VC=Intron;Gene=MAP4K4/NM_001242559.1/0;CC=c.306+208G>A;VC=Intron;Gene=MAP4K4/NM_145687.3/0;CC=c.306+208G>A;VC=Intron;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase;DM=MAP4K4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G:23:0:0:0:17,6:533,189:55.61,0.00:0.00,0.00:55.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:59.9,16.0:0,0:0,0:108,102:43,48:22,38:NM_145686.3(MAP4K4) c.306+208G>A,-:0.94,-:NOT_FOUND,- 2 102441893 . T . . NT END=102445965;NT GT ./. 2 102446058 . T . . NT END=102448182;NT GT ./. 2 102448315 . T . . NT END=102450870;NT GT ./. 2 102450927 . T . . NT END=102452361;NT GT ./. 2 102452442 . T . . NT END=102456280;NT GT ./. 2 102456458 . T . . NT END=102459070;NT GT ./. 2 102459145 . T . . NT END=102460562;NT GT ./. 2 102460775 . T . . NT END=102472438;NT GT ./. 2 102472602 . T . . NT END=102475457;NT GT ./. 2 102475546 . T . . NT END=102476104;NT GT ./. 2 102475839 rs6543099 T C 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=281;Gene=MAP4K4/NM_001242560.1/1;CC=c.1482+295T>C;VC=Intron;Gene=MAP4K4/NM_004834.4/0;CC=c.1482+295T>C;VC=Intron;Gene=MAP4K4/NM_145686.3/0;CC=c.1482+295T>C;VC=Intron;Gene=MAP4K4/NM_001242559.1/0;CC=c.1483-266T>C;VC=Intron;Gene=MAP4K4/NM_145687.3/0;CC=c.1482+295T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,G:7:5:0:0:6,1:208,9:23.26,0.58:15.84,0.58:7.42,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:38.5,66.0:0,0:0,0:98,32:52,119:28,0:NM_145686.3(MAP4K4) c.1482+295T>C,NM_145686.3(MAP4K4) c.1482+295T>C:1,1:NOT_FOUND,NOT_FOUND 2 102476328 . T . . NT END=102477286;NT GT ./. 2 102477450 . T . . NT END=102480282;NT GT ./. 2 102480514 . G . . NT END=102481391;NT GT ./. 2 102481500 . T . . NT END=102482889;NT GT ./. 2 102483043 . T . . NT END=102483673;NT GT ./. 2 102483782 . T . . NT END=102484490;NT GT ./. 2 102484500 . G . . NT END=102486083;NT GT ./. 2 102486261 . T . . NT END=102486756;NT GT ./. 2 102486879 . T . . NT END=102487955;NT GT ./. 2 102488149 . T . . NT END=102490108;NT GT ./. 2 102490228 . T . . NT END=102490543;NT GT ./. 2 102490716 . T . . NT END=102493464;NT GT ./. 2 102493610 . T . . NT END=102499012;NT GT ./. 2 102499149 . T . . NT END=102501648;NT GT ./. 2 102501751 . T . . NT END=102503549;NT GT ./. 2 102503486 . CA C 19 idl,rn VT=DEL;SST=Single;DP=27;NP=1;PC=0.603;Gene=MAP4K4/NM_001242560.1/1;CC=c.3175-44delA;VC=Intron;Gene=MAP4K4/NM_004834.4/0;CC=c.2941-44delA;VC=Intron;Gene=MAP4K4/NM_145686.3/0;CC=c.3289-44delA;VC=Intron;Gene=MAP4K4/NM_001242559.1/0;CC=c.3187-44delA;VC=Intron;Gene=MAP4K4/NM_145687.3/0;CC=c.3106-44delA;VC=Intron;DM=MAP4K4/CNH;DM=MAP4K4/CNH;DM=MAP4K4/CNH;DM=MAP4K4/CNH;DM=MAP4K4/CNH;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:CA,I,C:21:27:3:13:11,3,7:377,96,390:0.00,7.61,19.20:0.00,7.63,17.62:0.00,-0.03,1.58:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.54:60,60,60:31.1,9.7,60.7:0,0,6:0,0,0:49,79,36:101,72,113:32,14,30:-,NM_145686.3(MAP4K4) c.3289-63delA:-,NOT_FOUND:-,NOT_FOUND 2 102503725 . T . . NT END=102504239;NT GT ./. 2 102504401 . T . . NT END=102505257;NT GT ./. 2 102505399 . T . . NT END=102507627;NT GT ./. 2 102507713 . A . . NT END=102625037;NT GT ./. 2 102579017 rs74538397 G T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9782,T/0.02177 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:G,T:4:4:0:0:2,2:58,66:0.00,6.35:0.00,4.66:0.00,1.69:0.00,0.51:0.00,0.51:0.00,0.79:60,60:4.5,41.5:0,0:0,0:109,73:42,69:16,69:-,chr2 g.102579016G>T (intergenic):-,0.03:-,NOT_FOUND 2 102625105 . G . . NT END=102626023;NT GT ./. 2 102626289 . G . . NT END=102632332;NT GT ./. 2 102632514 . G . . NT END=102636099;NT GT ./. 2 102636275 . G . . NT END=102638648;NT GT ./. 2 102638712 . G . . NT END=102640994;NT GT ./. 2 102641219 . T . . NT END=102642572;NT GT ./. 2 102642716 . G . . NT END=102644687;NT GT ./. 2 102644855 . A . . NT END=102774184;NT GT ./. 2 102774054 rs2287047 G A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5763,A/0.4237;Gene=IL1R1/NM_001288706.1/1;CC=c.-6-125G>A;VC=Intron;Gene=IL1R1/NM_000877.3/0;CC=c.-6-125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:17:17:0:0:6,11:197,346:17.77,0.00:17.77,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:46.2,17.0:0,0:0,0:35,81:116,70:18,31:NM_000877.2(IL1R1) c.-6-125G>A,-:0.41,-:NOT_FOUND,- 2 102774246 . G . . NT END=102781233;NT GT ./. 2 102781166 rs3917285 T A 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.9698,A/0.03015;Gene=IL1R1/NM_001288706.1/1;CC=c.62-68T>A;VC=Intron;Gene=IL1R1/NM_000877.3/0;CC=c.62-68T>A;VC=Intron;DM=IL1R1/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:22:21:0:0:10,1,11:334,6,334:31.85,-0.09,0.00:30.55,-0.07,0.00:1.30,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.75,0.00,0.00:60,60,60:33.4,145.0,10.1:0,0,0:0,0,0:51,130,24:97,21,127:22,0,18:NM_000877.2(IL1R1) c.62-68T>A,-:0.05,-:NOT_FOUND,- 2 102781469 . G . . NT END=102781574;NT GT ./. 2 102781765 . G . . NT END=102782572;NT GT ./. 2 102782742 . G . . NT END=102785057;NT GT ./. 2 102785124 . G . . NT END=102788260;NT GT ./. 2 102785158 rs55639750 G T 65 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=IL1R1/NM_001288706.1/1;CC=c.721+35G>T;VC=Intron;Gene=IL1R1/NM_000877.3/0;CC=c.721+35G>T;VC=Intron;DM=IL1R1/Ig_3;DM=IL1R1/Ig_3;DM=IL1R1/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,I:36:18:4:0:11,21,4:300,639,111:0.00,64.88,8.65:0.00,22.34,1.16:0.00,42.54,7.49:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,70:15.7,45.3,92.2:0,0,0:0,0,0:112,117,73:36,33,77:27,22,29:-,NM_000877.2(IL1R1) c.721+35G>T:-,0.32:-,0.132324 2 102788125 rs3917304 G T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6278,T/0.3722;Gene=IL1R1/NM_001288706.1/1;CC=c.722-136G>T;VC=Intron;Gene=IL1R1/NM_000877.3/0;CC=c.722-136G>T;VC=Intron;DM=IL1R1/Ig_3;DM=IL1R1/Ig_3;DM=IL1R1/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:G,T:11:11:0:0:5,6:138,169:0.00,16.45:0.00,16.45:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:22.6,36.5:0,0:0,0:22,35:129,115:4,16:-,NM_000877.2(IL1R1) c.722-136G>T:-,0.37:-,NOT_FOUND 2 102788379 . G . . NT END=102788681;NT GT ./. 2 102788409 rs2041747 G A 88 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.01298,A/0.987;Gene=IL1R1/NM_001288706.1/1;CC=c.839+31G>A;VC=Intron;Gene=IL1R1/NM_000877.3/0;CC=c.839+31G>A;VC=Intron;DM=IL1R1/Ig_3;DM=IL1R1/Ig_3;DM=IL1R1/Ig_3;DM=IL1R1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:7:0:0:25:761:87.97:21.96:66.01:1.00:1.00:1.00:60:45.0:0:0:91:59:33:NM_000877.2(IL1R1) c.839+31G>A,NM_000877.2(IL1R1) c.839+31G>A:0.98,0.98:0.968245,0.968245 2 102788917 . G . . NT END=102789146;NT GT ./. 2 102789299 . G . . NT END=102791046;NT GT ./. 2 102791191 . G . . NT END=102791937;NT GT ./. 2 102792106 . G . . NT END=102792812;NT GT ./. 2 102792760 rs3917318 A G 75 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.6286,G/0.3714;PC=0.246;Gene=IL1R1/NM_001288706.1/1;CC=c.1211-53A>G;VC=Intron;Gene=IL1R1/NM_000877.3/0;CC=c.1304-53A>G;VC=Intron;DM=IL1R1/TIR;DM=IL1R1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:43:0:0:19,26:594,763:0.00,75.33:0.00,62.63:0.00,12.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.4,35.3:0,0:0,0:44,67:89,79:23,29:-,NM_000877.2(IL1R1) c.1304-53A>G:-,0.37:-,NOT_FOUND 2 102793220 . C . . NT END=102803474;NT GT ./. 2 102803547 . G . . NT END=102803773;NT GT ./. 2 102803803 . G . . NT END=102804315;NT GT ./. 2 102804386 . G . . NT END=102805535;NT GT ./. 2 102805771 . G . . NT END=102808384;NT GT ./. 2 102808581 . G . . NT END=102818015;NT GT ./. 2 102818176 . G . . NT END=102828559;NT GT ./. 2 102828635 . G . . NT END=102835412;NT GT ./. 2 102835543 . G . . NT END=102836340;NT GT ./. 2 102836478 . G . . NT END=102842357;NT GT ./. 2 102842502 . G . . NT END=102849422;NT GT ./. 2 102849585 . G . . NT END=102851356;NT GT ./. 2 102852427 . C . . NT END=102855651;NT GT ./. 2 102855702 . G . . NT END=102954724;NT GT ./. 2 102954653 rs13431828 C T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8403,T/0.1597;Gene=IL1RL1/NM_001282408.1/0;CC=c.-146-788C>T;VC=Intron;Gene=IL1RL1/NM_016232.4/1;CC=c.-72C>T;VC=5UTR;Gene=IL1RL1/NM_003856.3/0;CC=c.-72C>T;VC=5UTR;Gene=IL1RL1/NR_104167.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:17:16:0:0:12,5:402,135:0.00,11.41:0.00,10.14:0.00,1.27:0.00,0.88:0.00,0.99:0.00,0.59:60,60:0.0,30.2:0,0:0,0:24,44:126,107:17,18:-,NM_016232.4(IL1RL1) c.-72C>T:-,0.16:-,NOT_FOUND 2 102954786 . G . . NT END=102955296;NT GT ./. 2 102955468 rs1041973 C A 69 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.7181,A/0.2819;Gene=IL1RL1/NM_001282408.1/0;CC=c.-119C>A;VC=5UTR;Gene=IL1RL1/NM_016232.4/1;CC=c.233C>A;ProtCh=p.A78E;VC=Missense;Gene=IL1RL1/NM_003856.3/0;CC=c.233C>A;ProtCh=p.A78E;VC=Missense;Gene=IL1RL1/NR_104167.1/0;VC=NonCoding;DM=IL1RL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:51:21:0:0:23,27,1:728,911,8:68.75,0.00,-0.12:12.01,0.00,0.04:56.74,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.9,0.3,113.0:0,0,0:0,0,0:101,97,92:50,53,42:25,27,0:NM_016232.4(IL1RL1) c.233C>A (p.Ala78Glu),-:0.29,-:0.326311,- 2 102955508 . G . . NT END=102956557;NT GT ./. 2 102956733 . G . . NT END=102957125;NT GT ./. 2 102957289 . G . . NT END=102957647;NT GT ./. 2 102957348 rs10173081 C T 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.8403,T/0.1597;Gene=IL1RL1/NM_001282408.1/0;CC=c.259+60C>T;VC=Intron;Gene=IL1RL1/NM_016232.4/1;CC=c.610+60C>T;VC=Intron;Gene=IL1RL1/NM_003856.3/0;CC=c.610+60C>T;VC=Intron;Gene=IL1RL1/NR_104167.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:13:0:0:15,21:426,697:0.00,69.17:0.00,19.97:0.00,49.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.4,39.6:0,0:0,0:116,95:35,55:25,16:-,NM_016232.4(IL1RL1) c.610+60C>T:-,0.16:-,NOT_FOUND 2 102957628 rs201528268 C CT 66 idl,rn VT=INS;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=8;Gene=IL1RL1/NM_001282408.1/0;CC=c.259+355dupT;VC=Intron;Gene=IL1RL1/NM_016232.4/1;CC=c.610+355dupT;VC=Intron;Gene=IL1RL1/NM_003856.3/0;CC=c.610+355dupT;VC=Intron;Gene=IL1RL1/NR_104167.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:59:50:26:8:31,22,6:969,817,242:0.00,65.81,13.37:0.00,37.58,4.65:0.00,28.23,8.72:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:27.2,39.4,17.7:0,4,2:0,0,0:91,46,61:60,81,88:44,25,22:-,NM_016232.4(IL1RL1) c.610+340_610+341insT:-,NOT_FOUND:-,NOT_FOUND 2 102957818 . G . . NT END=102958682;NT GT ./. 2 102958755 . G . . NT END=102959495;NT GT ./. 2 102959638 . G . . NT END=102959729;NT GT ./. 2 102960210 rs3771175 T A 117 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.8403,A/0.1597;Gene=IL1RL1/NM_001282408.1/0;CC=c.*318T>A;VC=3UTR;Gene=IL1RL1/NM_016232.4/1;CC=c.970+335T>A;VC=Intron;Gene=IL1RL1/NM_003856.3/0;CC=c.*318T>A;VC=3UTR;Gene=IL1RL1/NR_104167.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:73:36:0:0:38,35:1209,1107:117.02,0.00:58.75,0.00:58.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,6.8:0,0:0,0:79,75:70,63:40,37:NM_016232.4(IL1RL1) c.970+335T>A,-:0.16,-:NOT_FOUND,- 2 102960430 . t . . NT END=102960785;NT GT ./. 2 102960824 rs2160203 A G 14 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7538,G/0.2462;Gene=IL1RL1/NM_001282408.1/0;CC=c.*932A>G;VC=3UTR;Gene=IL1RL1/NM_016232.4/1;CC=c.970+949A>G;VC=Intron;Gene=IL1RL1/NM_003856.3/0;CC=c.*932A>G;VC=3UTR;Gene=IL1RL1/NR_104167.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,G:18:12:0:0:13,5:409,160:0.00,13.78:0.00,7.38:0.00,6.39:0.00,0.87:0.00,0.96:0.00,0.96:60,60:8.2,38.4:0,0:0,0:49,103:99,48:30,26:-,NM_016232.4(IL1RL1) c.970+949A>G:-,0.26:-,NOT_FOUND 2 102960900 . t . . NT END=102961148;NT GT ./. 2 102962561 . T . . NT END=102964404;NT GT ./. 2 102964552 . G . . NT END=102965538;NT GT ./. 2 102965707 . G . . NT END=102967995;NT GT ./. 2 102967857 rs6734742 C T 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6156,T/0.3844;Gene=IL1RL1/NM_016232.4/1;CC=c.1286-139C>T;VC=Intron;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:25:0:0:15,10:493,317:0.00,29.16:0.00,29.16:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.1,82.7:0,0:0,0:57,51:93,99:30,33:-,NM_016232.4(IL1RL1) c.1286-139C>T:-,0.36:-,NOT_FOUND 2 102967858 rs6752482 T C 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.615,C/0.385;Gene=IL1RL1/NM_016232.4/1;CC=c.1286-138T>C;VC=Intron;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:10,15:346,514:32.06,0.00:32.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:82.7,11.1:0,0:0,0:52,58:98,92:33,30:NM_016232.4(IL1RL1) c.1286-138T>C,-:0.36,-:NOT_FOUND,- 2 102967928 rs4988955 A G 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.614,G/0.386;Gene=IL1RL1/NM_016232.4/1;CC=c.1286-68A>G;VC=Intron;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:41:0:0:26,20:855,614:0.00,57.22:0.00,45.40:0.00,11.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,72.5:0,0:0,0:41,29:109,116:26,18:-,NM_016232.4(IL1RL1) c.1286-68A>G:-,0.4:-,NOT_FOUND 2 102968007 rs4988956 G A 127 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.6146,A/0.3854;PC=0.015;Gene=IL1RL1/NM_016232.4/1;CC=c.1297G>A;ProtCh=p.A433T;VC=Missense;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:91:73:0:0:43,47,1:1333,1511,10:126.75,0.00,-0.12:85.93,0.00,-0.04:40.82,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.4,9.3,18.0:0,0,0:0,0,0:68,69,135:82,81,15:38,38,0:NM_016232.4(IL1RL1) c.1297G>A (p.Ala433Thr),-:0.4,-:0.496002,- 2 102968075 rs4988957 T C 169 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.6146,C/0.3854;Gene=IL1RL1/NM_016232.4/1;CC=c.1365T>C;ProtCh=p.N455=;VC=Silent;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:105:81:0:0:52,53:1756,1639:168.82,0.00:105.28,0.00:63.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.3,8.7:0,0:0,0:70,79:76,69:32,37:NM_016232.4(IL1RL1) c.1365T>C (p.(=)),-:0.4,-:0.496002,- 2 102968211 rs10192036 C A 131 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.618,A/0.382;Gene=IL1RL1/NM_016232.4/1;CC=c.1501C>A;ProtCh=p.Q501K;VC=Missense;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:89:44:0:0:40,49:1381,1524:130.63,0.00:49.11,0.00:81.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:92.8,9.2:0,0:0,0:81,59:70,84:29,37:NM_016232.4(IL1RL1) c.1501C>A (p.Gln501Lys),-:0.32,-:0.035061,- 2 102968212 rs10204137 A G 121 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.6182,G/0.3818;PC=0.008;Gene=IL1RL1/NM_016232.4/1;CC=c.1502A>G;ProtCh=p.Q501R;VC=Missense;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:44:0:0:49,39:1614,1283:0.00,120.66:0.00,45.08:0.00,75.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,91.0:0,0:0,0:57,95:90,56:40,25:-,NM_016232.4(IL1RL1) c.1502A>G (p.Gln501Arg):-,0.32:-,0.052053 2 102968285 rs4988958 T C 84 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.6148,C/0.3852;PC=0.976;Gene=IL1RL1/NM_016232.4/1;CC=c.1575T>C;ProtCh=p.S525=;VC=Silent;DM=IL1RL1/TIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:40:0:0:28,48:921,1502:83.76,0.00:35.23,0.00:48.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:105.8,20.2:0,0:0,0:109,85:41,64:22,37:NM_016232.4(IL1RL1) c.1575T>C (p.(=)),-:0.4,-:0.495771,- 2 102968356 rs10192157 C T 75 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.6148,T/0.3852;Gene=IL1RL1/NM_016232.4/1;CC=c.1646C>T;ProtCh=p.T549I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:36:0:0:40,26:1303,821:0.00,75.28:0.00,31.49:0.00,43.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.4,82.1:0,0:0,0:92,63:50,86:28,20:-,NM_016232.4(IL1RL1) c.1646C>T (p.Thr549Ile):-,0.4:-,0.493076 2 102968362 rs10206753 T C 75 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.6148,C/0.3852;Gene=IL1RL1/NM_016232.4/1;CC=c.1652T>C;ProtCh=p.L551S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:63:35:0:0:27,1,35:810,12,1153:75.29,-0.02,0.00:31.60,-0.11,0.00:43.69,0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,24,60:84.5,234.0,9.1:0,0,0:0,0,0:69,126,87:81,12,53:18,0,28:NM_016232.4(IL1RL1) c.1652T>C (p.Leu551Ser),-:0.4,-:0.491917,- 2 102968382 . T . . NT END=102972770;NT GT ./. 2 102972799 rs4851566 G C 117 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.6148,C/0.3852;Gene=IL18R1/NM_001282399.1/1;CC=c.-368G>C;VC=5UTR;Gene=IL18R1/NM_003855.3/0;CC=c.-90G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:74:50:0:0:37,37:1214,1191:116.79,0.00:51.89,0.00:64.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,7.1:0,0:0,0:72,64:66,79:35,32:NM_003855.2(IL18R1) c.-24-u6298G>C,-:0.4,-:NOT_FOUND,- 2 102972861 . G . . NT END=102979092;NT GT ./. 2 102979179 . G . . NT END=102984284;NT GT ./. 2 102984529 . G . . NT END=102988412;NT GT ./. 2 102984624 rs1362348 C G 43 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.639,G/0.361;Gene=IL18R1/NM_001282399.1/1;CC=c.-220-3789C>G;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.302+96C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:4:0:0:11,14:364,436:0.00,42.77:0.00,1.38:0.00,41.39:0.00,1.00:0.00,0.96:0.00,1.00:60,60:4.6,57.5:0,0:0,0:112,111:37,38:12,12:-,NM_003855.2(IL18R1) c.302+96C>G:-,0.38:-,NOT_FOUND 2 102984684 rs1558627 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3085,A/0.6915;PC=0.001;Gene=IL18R1/NM_001282399.1/1;CC=c.-220-3729G>A;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.302+156G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:8:0:0:0:3,5:98,159:8.93,0.00:0.00,0.00:8.93,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:77.3,55.8:0,0:0,0:126,94:24,57:2,25:NM_003855.2(IL18R1) c.302+156G>A,-:0.72,-:NOT_FOUND,- 2 102988579 . G . . NT END=102992366;NT GT ./. 2 102992524 . G . . NT END=102998079;NT GT ./. 2 102992675 rs2270297 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3123,C/0.6877;Gene=IL18R1/NM_001282399.1/1;CC=c.160+152T>C;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.625+152T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:9:0:0:0:3,6:96,179:8.55,0.00:0.00,0.00:8.55,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:32.0,19.2:0,0:0,0:111,129:39,22:24,7:NM_003855.2(IL18R1) c.625+152T>C,-:0.72,-:NOT_FOUND,- 2 102997884 rs3213733 C A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8151,A/0.1849;Gene=IL18R1/NM_001282399.1/1;CC=c.161-196C>A;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.626-196C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,C:6:6:0:0:3,3:97,103:9.32,0.00:9.32,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:32.3,61.7:0,0:0,0:16,35:135,116:9,23:NM_003855.2(IL18R1) c.626-196C>A,-:0.19,-:NOT_FOUND,- 2 102998143 . G . . NT END=103001337;NT GT ./. 2 102998279 rs3213732 A G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5685,G/0.4315;PC=0.002;Gene=IL18R1/NM_001282399.1/1;CC=c.223+137A>G;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.688+137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:8:0:0:0:4,4:126,128:0.00,12.30:0.00,0.00:0.00,12.30:0.00,0.87:0.00,0.00:0.00,0.87:60,60:23.5,32.0:0,0:0,0:113,115:36,36:5,27:-,NM_003855.2(IL18R1) c.688+137A>G:-,0.46:-,NOT_FOUND 2 103001459 . G . . NT END=103003320;NT GT ./. 2 103003461 . G . . NT END=103006515;NT GT ./. 2 103006448 rs6749014 C T 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.5679,T/0.4321;Gene=IL18R1/NM_001282399.1/1;CC=c.485-71C>T;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.950-68C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:26:0:0:13,15:429,477:0.00,46.41:0.00,43.75:0.00,2.66:0.00,1.00:0.00,1.00:0.00,0.99:60,60:13.1,37.2:0,0:0,0:40,81:111,69:33,32:-,NM_003855.2(IL18R1) c.950-68C>T:-,0.46:-,NOT_FOUND 2 103006678 . G . . NT END=103010928;NT GT ./. 2 103010912 rs1420096 C T 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.5681,T/0.4319;Gene=IL18R1/NM_001282399.1/1;CC=c.644-17C>T;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.1112-17C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:30:0:0:12,20:414,586:0.00,58.93:0.00,46.10:0.00,12.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.8,39.9:0,0:0,0:82,81:69,67:21,40:-,NM_003855.2(IL18R1) c.1112-17C>T:-,0.46:-,0.578733 2 103011088 . G . . NT END=103012990;NT GT ./. 2 103011237 rs2287033 T C 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5621,C/0.4379;Gene=IL18R1/NM_001282399.1/1;CC=c.802+150T>C;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.1270+150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,T:11:0:0:0:9,2:290,66:31.03,0.00:0.00,0.00:31.03,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.7,0.0:0,0:0,0:124,111:27,39:25,4:NM_003855.2(IL18R1) c.1270+150T>C,-:0.46,-:NOT_FOUND,- 2 103012781 rs10174323 C A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8111,A/0.1889;Gene=IL18R1/NM_001282399.1/1;CC=c.803-210C>A;VC=Intron;Gene=IL18R1/NM_003855.3/0;CC=c.1271-210C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,C:4:4:0:0:3,1:100,34:10.45,0.00:10.45,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:37.3,0.0:0,0:0,0:90,19:61,131:22,0:NM_003855.2(IL18R1) c.1271-210C>A,-:0.19,-:NOT_FOUND,- 2 103013347 . T . . NT END=103039737;NT GT ./. 2 103028066 rs7586983 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8109,T/0.1891;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:8:5:0:0:4,4:125,115:0.00,10.98:0.00,2.44:0.00,8.54:0.00,0.87:0.00,0.96:0.00,0.73:60,60:0.0,50.5:0,0:0,0:80,32:70,115:14,11:-,NM_003853.2(IL18RAP) c.-484-u7188C>T:-,0.2:-,NOT_FOUND 2 103028301 rs6543127 A C 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5659,C/0.4341;PC=0.334 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C:13:8:0:0:2,11:65,360:0.00,38.82:0.00,15.06:0.00,23.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,38.1:0,0:0,0:119,90:32,61:25,31:-,NM_003853.2(IL18RAP) c.-484-u6953A>C:-,0.47:-,NOT_FOUND 2 103039584 rs3817465 A T 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3117,T/0.6883;PC=0.943;Gene=IL18RAP/NM_003853.3/1;CC=c.-100-54A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,T:14:14:0:0:4,10:130,291:0.00,30.18:0.00,30.18:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.8,54.8:0,0:0,0:55,30:94,120:29,13:-,NM_003853.2(IL18RAP) c.-100-54A>T:-,0.72:-,NOT_FOUND 2 103039808 . G . . NT END=103040270;NT GT ./. 2 103039873 rs2272127 C G 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.8101,G/0.1899;Gene=IL18RAP/NM_003853.3/1;CC=c.70+66C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:2:0:0:9,17:272,532:0.00,54.02:0.00,5.34:0.00,48.68:0.00,1.00:0.00,0.90:0.00,1.00:60,60:5.2,49.4:0,0:0,0:128,97:21,54:17,27:-,NM_003853.2(IL18RAP) c.70+66C>G:-,0.2:-,0.221419 2 103039929 rs2272128 G A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3117,A/0.6883;Gene=IL18RAP/NM_003853.3/1;CC=c.70+122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,G:9:0:0:0:7,2:236,59:24.87,0.00:0.00,0.00:24.87,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:75.6,0.0:0,0:0,0:124,94:27,56:22,5:NM_003853.2(IL18RAP) c.70+122G>A,-:0.72,-:NOT_FOUND,- 2 103040047 rs6759479 A C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5655,C/0.4345;Gene=IL18RAP/NM_003853.3/1;CC=c.71-224A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,C:7:4:0:0:3,4:85,135:0.00,13.33:0.00,6.83:0.00,6.50:0.00,0.90:0.00,0.97:0.00,0.93:60,60:28.3,42.8:0,0:0,0:34,92:117,58:20,13:-,NM_003853.2(IL18RAP) c.71-224A>C:-,0.46:-,NOT_FOUND 2 103040177 rs6543133 A T 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5653,T/0.4347;Gene=IL18RAP/NM_003853.3/1;CC=c.71-94A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:21:20:0:0:14,7:432,227:0.00,20.24:0.00,16.82:0.00,3.41:0.00,0.97:0.00,1.00:0.00,0.63:60,60:14.4,86.9:0,0:0,0:44,49:106,102:25,25:-,NM_003853.2(IL18RAP) c.71-94A>T:-,0.46:-,NOT_FOUND 2 103040182 rs9807934 T G 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.8101,G/0.1899;Gene=IL18RAP/NM_003853.3/1;CC=c.71-89T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:22:21:0:0:8,14:205,484:17.99,0.00:14.45,0.00:3.54,0.00:0.99,0.00:1.00,0.00:0.66,0.00:60,60:83.2,9.8:0,0:0,0:44,41:103,109:23,22:NM_003853.2(IL18RAP) c.71-89T>G,-:0.19,-:NOT_FOUND,- 2 103040247 rs398104566 T TG 54 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.3107,TG/0.6893;DB;DBA=NA;PAF=T/0.3107,TG/0.6893;NP=2852;Gene=IL18RAP/NM_003853.3/1;CC=c.71-23dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:41:37:19:0:22,19:669,570:0.00,53.77:0.00,41.64:0.00,12.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,51.6:0,0:0,0:50,49:97,101:37,19:-,NM_003853.2(IL18RAP) c.71-24_71-23insG:-,0.72:-,0.812119 2 103040249 rs3215320 C T 54 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3107,G/.,T/0.6893;DB;DBA=NA;PAF=NA;Gene=IL18RAP/NM_003853.3/1;CC=c.71-22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:38:0:0:23,19:722,573:0.00,53.79:0.00,41.35:0.00,12.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,50.2:0,19:0,0:60,52:91,98:37,22:-,NM_003853.2(IL18RAP) c.71-22C>T:-,NOT_FOUND:-,NOT_FOUND 2 103040596 . G . . NT END=103040690;NT GT ./. 2 103040875 . G . . NT END=103053671;NT GT ./. 2 103040945 rs887972 G A 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.7204,A/0.2796;Gene=IL18RAP/NM_003853.3/1;CC=c.579+71G>A;VC=Intron;DM=IL18RAP/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:6:0:0:14,16:463,520:43.96,0.00:4.96,0.00:39.00,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:35.4,0.6:0,0:0,0:100,108:50,42:40,37:NM_003853.2(IL18RAP) c.579+71G>A,-:0.28,-:NOT_FOUND,- 2 103053823 . G . . NT END=103057771;NT GT ./. 2 103054074 rs4479442 A T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5879,T/0.4121;Gene=IL18RAP/NM_003853.3/1;CC=c.730+252A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,T:6:0:0:0:3,3:98,85:0.00,8.12:0.00,0.00:0.00,8.12:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,41.0:0,0:0,0:52,78:99,71:1,25:-,NM_003853.2(IL18RAP) c.730+252A>T:-,0.44:-,NOT_FOUND 2 103057838 . G . . NT END=103059659;NT GT ./. 2 103057892 rs11465702 A G 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.9233,G/0.07668;PC=0.004;Gene=IL18RAP/NM_003853.3/1;CC=c.796+55A>G;VC=Intron;DM=IL18RAP/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:9:0:0:11,14:369,446:0.00,43.81:0.00,11.92:0.00,31.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,43.1:0,0:0,0:80,115:70,35:30,16:-,NM_003853.2(IL18RAP) c.796+55A>G:-,0.09:-,0.121332 2 103059613 rs1558651 A G 127 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=IL18RAP/NM_003853.3/1;CC=c.797-47A>G;VC=Intron;DM=IL18RAP/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:30:0:0:34:1106:126.76:91.32:35.44:1.00:1.00:1.00:60:42.2:0:0:72:71:28:NM_003853.2(IL18RAP) c.797-47A>G,NM_003853.2(IL18RAP) c.797-47A>G:1,1:0.999846,0.999846 2 103059784 . G . . NT END=103061648;NT GT ./. 2 103061801 . G . . NT END=103063529;NT GT ./. 2 103063369 rs6708413 G A 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3061,A/0.6939;Gene=IL18RAP/NM_003853.3/1;CC=c.1073-161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G,T:16:16:0:0:7,8,1:186,246,8:17.41,0.00,0.06:17.41,0.00,0.06:0.00,0.00,0.00:0.98,0.00,0.00:0.98,0.00,0.00:0.00,0.00,0.00:60,60,60:46.3,25.4,8.0:0,0,0:0,0,0:75,30,87:76,121,64:43,23,0:NM_003853.2(IL18RAP) c.1073-161G>A,-:0.72,-:NOT_FOUND,- 2 103063520 rs11465723 G A 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.9233,A/0.07668;Gene=IL18RAP/NM_003853.3/1;CC=c.1073-10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:79:65:0:0:36,43:1126,1406:106.09,0.00:68.35,0.00:37.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,9.8:0,0:0,0:60,65:90,83:32,34:NM_003853.2(IL18RAP) c.1073-10G>A,-:0.09,-:0.125634,- 2 103063668 . G . . NT END=103067307;NT GT ./. 2 103067482 . G . . NT END=103068225;NT GT ./. 2 103068642 . A . . NT END=103090218;NT GT ./. 2 103068787 rs7559479 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3065,A/0.6935;Gene=IL18RAP/NM_003853.3/1;CC=c.*146G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:A,G:12:0:0:0:7,5:232,144:23.02,0.00:0.00,0.00:23.02,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:47.4,22.2:0,0:0,0:133,41:18,110:9,38:NM_003853.2(IL18RAP) c.*146G>A,-:0.72,-:NOT_FOUND,- 2 103068834 rs7603250 T A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3089,A/0.6911;Gene=IL18RAP/NM_003853.3/1;CC=c.*193T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,T:6:0:0:0:3,3:100,66:9.64,0.00:0.00,0.00:9.64,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:67.0,36.3:0,0:0,0:131,73:18,69:7,15:NM_003853.2(IL18RAP) c.*193T>A,-:0.72,-:NOT_FOUND,- 2 103088777 rs1403552 C T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8103,T/0.1897 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:6:2:0:0:2,4:69,130:0.00,13.25:0.00,5.35:0.00,7.90:0.00,0.93:0.00,0.91:0.00,0.99:60,60:0.0,36.8:0,0:0,0:91,111:59,39:29,22:-,NM_001011552.3(SLC9A4) c.-457-u985C>T:-,0.2:-,NOT_FOUND 2 103090475 . G . . NT END=103095297;NT GT ./. 2 103090575 rs79463214 A C 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.9163,C/0.08367;Gene=SLC9A4/NM_001011552.3/1;CC=c.256+101A>C;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:1:0:0:12,11:375,321:0.00,30.40:0.00,-0.14:0.00,30.54:0.00,1.00:0.00,0.65:0.00,1.00:60,60:10.4,30.2:0,0:0,0:97,96:53,55:40,41:-,NM_001011552.3(SLC9A4) c.256+101A>C:-,0.06:-,NOT_FOUND 2 103095404 rs11692304 G A 181 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=G/0.6609,A/0.3391;PC=0.258;Gene=SLC9A4/NM_001011552.3/1;CC=c.363G>A;ProtCh=p.S121=;VC=Silent;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:147:118:0:0:61,1,85:1950,9,2653:181.02,-0.20,0.00:118.08,-0.16,0.00:62.94,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.1,28.0,10.1:0,0,0:0,0,0:86,80,64:61,71,77:30,0,36:NM_001011552.3(SLC9A4) c.363G>A (p.(=)),-:0.37,-:0.420037,- 2 103095762 . G . . NT END=103119906;NT GT ./. 2 103120167 . G . . NT END=103121712;NT GT ./. 2 103120232 rs2075188 G A 183 nt VT=SNV;PN=A;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.3564,A/0.6436;Gene=SLC9A4/NM_001011552.3/1;CC=c.980+66G>A;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A:53:11:0:0:53:1574:182.58:31.85:150.73:1.00:1.00:1.00:60:49.6:0:0:102:46:28:NM_001011552.3(SLC9A4) c.980+66G>A,NM_001011552.3(SLC9A4) c.980+66G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 2 103120311 rs2075187 G A 97 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.2806,A/0.7194;Gene=SLC9A4/NM_001011552.3/1;CC=c.980+145G>A;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:0:0:1:28:837:96.96:0.00:96.96:1.00:0.00:1.00:60:90.1:0:0:79:72:33:NM_001011552.3(SLC9A4) c.980+145G>A,NM_001011552.3(SLC9A4) c.980+145G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 103120356 rs4851015 C T 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.2782,T/0.7218;PC=0.004;Gene=SLC9A4/NM_001011552.3/1;CC=c.980+190C>T;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:0:0:0:23:663:77.13:0.00:77.13:1.00:0.00:1.00:60:93.9:0:0:106:42:27:NM_001011552.3(SLC9A4) c.980+190C>T,NM_001011552.3(SLC9A4) c.980+190C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 2 103120400 rs4851016 C T 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.3566,T/0.6434;PC=0.047;Gene=SLC9A4/NM_001011552.3/1;CC=c.980+234C>T;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:0:0:0:16:478:55.31:0.00:55.31:1.00:0.00:1.00:60:84.8:0:0:106:43:24:NM_001011552.3(SLC9A4) c.980+234C>T,NM_001011552.3(SLC9A4) c.980+234C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 2 103121404 rs550190324 ACT A 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ACT/0.3516,A/0.6484;DB;DBA=NA;PAF=ACT/0.3516,A/0.6484;NP=53;Gene=SLC9A4/NM_001011552.3/1;CC=c.981-306_981-305delCT;VC=Intron;DM=SLC9A4/Na_H_Exchanger;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:4:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:3.2:0:0:29:119:2:NM_001011552.3(SLC9A4) c.981-308_981-307delCT,NM_001011552.3(SLC9A4) c.981-308_981-307delCT:0.64,0.64:NOT_FOUND,NOT_FOUND 2 103121536 rs7605606 G A 47 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4115,A/0.5885;Gene=SLC9A4/NM_001011552.3/1;CC=c.981-177G>A;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:0:14:400:46.58:46.58:0.00:1.00:1.00:0.00:60:39.6:0:0:47:104:9:NM_001011552.3(SLC9A4) c.981-177G>A,NM_001011552.3(SLC9A4) c.981-177G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 2 103121931 . G . . NT END=103124537;NT GT ./. 2 103124741 . G . . NT END=103125305;NT GT ./. 2 103125138 rs6751949 G A 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3009,A/0.6991;Gene=SLC9A4/NM_001011552.3/1;CC=c.1402-168G>A;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:228:26.14:26.14:0.00:1.00:1.00:0.00:60:77.3:0:0:39:112:19:NM_001011552.3(SLC9A4) c.1402-168G>A,NM_001011552.3(SLC9A4) c.1402-168G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 103125182 rs6724322 C T 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2216,T/0.7784;PC=0.001;Gene=SLC9A4/NM_001011552.3/1;CC=c.1402-124C>T;VC=Intron;DM=SLC9A4/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:423:48.50:48.50:0.00:1.00:1.00:0.00:60:56.4:0:0:45:106:27:NM_001011552.3(SLC9A4) c.1402-124C>T,NM_001011552.3(SLC9A4) c.1402-124C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 103125393 . G . . NT END=103128661;NT GT ./. 2 103125457 rs6739301 A G 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3005,G/0.6995;Gene=SLC9A4/NM_001011552.3/1;CC=c.1488+65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:4:0:0:16:523:59.92:9.67:50.25:1.00:1.00:1.00:60:64.2:0:0:106:44:18:NM_001011552.3(SLC9A4) c.1488+65A>G,NM_001011552.3(SLC9A4) c.1488+65A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 2 103125466 rs6742381 T C 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3007,C/0.6993;Gene=SLC9A4/NM_001011552.3/1;CC=c.1488+74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:4:0:0:15:428:49.78:9.31:40.47:1.00:1.00:1.00:60:65.6:0:0:117:33:15:NM_001011552.3(SLC9A4) c.1488+74T>C,NM_001011552.3(SLC9A4) c.1488+74T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 103125632 rs4851607 C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2997,T/0.7003;Gene=SLC9A4/NM_001011552.3/1;CC=c.1488+240C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:116:13.50:0.00:13.50:1.00:0.00:1.00:60:44.8:0:0:94:57:3:NM_001011552.3(SLC9A4) c.1488+240C>T,NM_001011552.3(SLC9A4) c.1488+240C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 2 103128733 . G . . NT END=103130548;NT GT ./. 2 103128866 rs4851609 T C 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.221,C/0.779;Gene=SLC9A4/NM_001011552.3/1;CC=c.1559+134T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:C:28:0:0:0:28:760:89.04:0.00:89.04:1.00:0.00:1.00:60:40.1:0:0:93:57:33:NM_001011552.3(SLC9A4) c.1559+134T>C,NM_001011552.3(SLC9A4) c.1559+134T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 103130711 . g . . NT END=103136317;NT GT ./. 2 103136309 rs1403550 T C 179 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.2262,C/0.7738;PC=0.001;Gene=SLC9A4/NM_001011552.3/1;CC=c.1722-9T>C;VC=Intron;DM=SLC9A4/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:C:49:43:0:0:49:1558:178.87:128.61:50.26:1.00:1.00:1.00:60:43.4:0:0:41:93:23:NM_001011552.3(SLC9A4) c.1722-9T>C,NM_001011552.3(SLC9A4) c.1722-9T>C:0.78,0.78:0.824389,0.824389 2 103136415 . G . . NT END=103141482;NT GT ./. 2 103136446 rs1403551 T G 150 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.2774,G/0.7226;Gene=SLC9A4/NM_001011552.3/1;CC=c.1818+32T>G;VC=Intron;DM=SLC9A4/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:15:0:0:39:1311:149.70:38.02:111.68:1.00:1.00:1.00:60:39.6:0:0:113:33:24:NM_001011552.3(SLC9A4) c.1818+32T>G,NM_001011552.3(SLC9A4) c.1818+32T>G:0.74,0.74:0.763494,0.763494 2 103141015 rs147920382 T TTGTGTGTGTG 20 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.505,TTGTGTGTGTG/0.495;NP=1;NP=2;Gene=SLC9A4/NM_001011552.3/1;CC=c.1819-439_1819-438insGTGTGTGTGT;VC=Intron;DM=SLC9A4/NEXCaM_BD;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TTGTGTGTGTG:6:3:6:0:6:176:20.45:9.52:10.93:1.00:1.00:1.00:60:21.7:0:0:60:91:17:NM_001011552.3(SLC9A4) c.1819-468_1819-467insTGTGTGTGTG,NM_001011552.3(SLC9A4) c.1819-468_1819-467insTGTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 103141447 rs2015478 A G 256 nt VT=SNV;PN=G;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.3618,G/0.6382;Gene=SLC9A4/NM_001011552.3/1;CC=c.1819-36A>G;VC=Intron;DM=SLC9A4/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:74:67:0:0:1,72,1:10,2225,11:0.13,255.82,0.17:0.13,197.16,0.00:0.00,58.66,0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:72.0,37.7,59.0:0,0,0:0,0,0:41,56,44:78,90,106:0,29,0:NM_001011552.3(SLC9A4) c.1819-36A>G,NM_001011552.3(SLC9A4) c.1819-36A>G:0.66,0.66:0.655236,0.655236 2 103141615 . G . . NT END=103142717;NT GT ./. 2 103141651 rs1024798 G C 391 nt VT=SNV;PN=T;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.225,C/0.775,T/.;Gene=SLC9A4/NM_001011552.3/1;CC=c.1950+37G>C;VC=Intron;DM=SLC9A4/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:99:37:0:0:99:3437:390.92:87.74:303.18:1.00:1.00:1.00:60:41.2:0:0:90:60:33:NM_001011552.3(SLC9A4) c.1950+37G>C,NM_001011552.3(SLC9A4) c.1950+37G>C:0.78,0.78:0.826234,0.826234 2 103142491 rs6712638 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2101,C/0.7899;PC=0.003;Gene=SLC9A4/NM_001011552.3/1;CC=c.1951-227T>C;VC=Intron;DM=SLC9A4/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:5:0:0:5:144:16.71:16.71:0.00:1.00:1.00:0.00:60:36.0:0:0:81:70:24:NM_001011552.3(SLC9A4) c.1951-227T>C,NM_001011552.3(SLC9A4) c.1951-227T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 103142806 . G . . NT END=103148788;NT GT ./. 2 103149100 rs1014286 G A 692 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=180;DB;DBA=NA;PAF=G/0.3776,A/0.6224;Gene=SLC9A4/NM_001011552.3/1;CC=c.2350G>A;ProtCh=p.G784S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:180:83:0:0:179,1:6069,6:691.68,0.02:198.83,0.00:492.84,0.02:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.5,142.0:0,0:0,0:91,16:54,135:29,0:NM_001011552.3(SLC9A4) c.2350G>A (p.Gly784Ser),NM_001011552.3(SLC9A4) c.2350G>A (p.Gly784Ser):0.65,0.65:0.637244,0.637244 2 103149148 . T . . NT END=103236307;NT GT ./. 2 103149162 rs2008159 A G 368 nt VT=SNV;PN=A;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.378,G/0.622;Gene=SLC9A4/NM_001011552.3/1;CC=c.*15A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:100:26:0:0:99,1:3210,13:367.71,0.19:67.03,0.00:300.68,0.19:1.00,0.00:1.00,0.00:1.00,0.00:60,60:89.7,110.0:0,0:0,0:110,16:39,134:21,0:NM_001011552.3(SLC9A4) c.*15A>G,NM_001011552.3(SLC9A4) c.*15A>G:0.65,0.65:0.635783,0.635783 2 103149182 rs2008157 A G 307 nt VT=SNV;PN=C;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.3776,G/0.6224;Gene=SLC9A4/NM_001011552.3/1;CC=c.*35A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:16:0:0:82:2679:306.94:39.92:267.02:1.00:1.00:1.00:60:90.8:0:0:106:44:27:NM_001011552.3(SLC9A4) c.*35A>G,NM_001011552.3(SLC9A4) c.*35A>G:0.65,0.65:0.634902,0.634902 2 103236597 . G . . NT END=103274022;NT GT ./. 2 103274487 . G . . NT END=103281558;NT GT ./. 2 103280904 rs67198566 G GCACA 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5198,GCA/0.4802,GCACA/.;DB;DBA=NA;PAF=NA;NP=63;NP=85;Gene=SLC9A2/NM_003048.4/1;CC=c.754-623_754-622insCACA;VC=Intron;DM=SLC9A2/Na_H_Exchanger;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GCACA:4:4:4:0:1,3:35,132:0.00,10.47:0.00,6.81:0.00,3.65:0.00,0.78:0.00,0.97:0.00,0.73:60,60:0.0,14.3:0,1:0,0:21,78:129,72:0,16:-,NM_003048.3(SLC9A2) c.754-655_754-654insCACA:-,NOT_FOUND:-,NOT_FOUND 2 103281417 rs11123944 A C 58 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6771,C/0.3229;Gene=SLC9A2/NM_003048.4/1;CC=c.754-142A>C;VC=Intron;DM=SLC9A2/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:28:27:0:0:11,17:341,582:0.00,58.18:0.00,55.02:0.00,3.16:0.00,1.00:0.00,1.00:0.00,0.74:60,60:9.1,48.1:0,0:0,0:47,53:104,96:23,23:-,NM_003048.3(SLC9A2) c.754-142A>C:-,0.35:-,NOT_FOUND 2 103281540 rs397801239 G GT 145 idl,rn VT=INS;SST=Single;DP=108;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=32;Gene=SLC9A2/NM_003048.4/1;CC=c.754-8dupT;VC=Intron;DM=SLC9A2/Na_H_Exchanger;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:103:91:52:5:51,48,4:1683,1642,159:0.00,145.39,8.75:0.00,99.33,5.40:0.00,46.07,3.35:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.3,15.1,10.2:0,4,1:0,0,0:67,56,75:82,92,76:32,16,10:-,NM_003048.3(SLC9A2) c.754-19_754-18insT:-,NOT_FOUND:-,NOT_FOUND 2 103281810 . G . . NT END=103299719;NT GT ./. 2 103281960 rs6543176 A G 78 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=2169;PC=0.003;Gene=SLC9A2/NM_003048.4/1;CC=c.1004+151A>G;VC=Intron;DM=SLC9A2/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:0:0:0:21:684:78.37:0.00:78.37:1.00:0.00:1.00:60:44.0:0:0:115:36:19:NM_003048.3(SLC9A2) c.1004+151A>G,NM_003048.3(SLC9A2) c.1004+151A>G:1,1:NOT_FOUND,NOT_FOUND 2 103299938 . G . . NT END=103300592;NT GT ./. 2 103300211 rs72314227 TCTC T 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TCTC/0.3456,T/0.6544;DB;DBA=NA;PAF=TCTC/0.3456,T/0.6544;NP=260;Gene=SLC9A2/NM_003048.4/1;CC=c.1222+281_1222+283delCTC;VC=Intron;DM=SLC9A2/Na_H_Exchanger;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:TCTC,T:4:0:0:3:1,3:29,88:0.00,9.25:0.00,0.00:0.00,9.25:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,19.3:0,0:0,0:147,125:3,24:0,3:-,NM_003048.3(SLC9A2) c.1222+275_1222+277delCTC:-,0.63:-,NOT_FOUND 2 103300506 rs6757258 A G 80 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.2502,G/0.7498;PC=0.003;Gene=SLC9A2/NM_003048.4/1;CC=c.1223-87A>G;VC=Intron;DM=SLC9A2/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:23:0:0:23:692:80.16:72.55:7.60:1.00:1.00:1.00:60:43.1:0:0:18:133:12:NM_003048.3(SLC9A2) c.1223-87A>G,NM_003048.3(SLC9A2) c.1223-87A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 103300796 . G . . NT END=103310872;NT GT ./. 2 103310963 . G . . NT END=103311501;NT GT ./. 2 103311338 rs397710453 AGTTT A 23 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AGTTT/0.382,A/0.618;DB;DBA=NA;PAF=AGTTT/0.382,A/0.618;DB;DBA=NA;PAF=AGTTT/0.382,A/0.618;DB;DBA=NA;PAF=NA;NP=1104;PC=0.003;Gene=SLC9A2/NM_003048.4/1;CC=c.1516-158_1516-155delTTTG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:AGTTT,A:8:8:0:7:1,7:35,209:0.00,22.92:0.00,22.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,2.7:0,0:0,0:141,43:6,107:0,27:-,NM_003048.3(SLC9A2) c.1516-163_1516-160delGTTT:-,0.59:-,NOT_FOUND 2 103311573 . G . . NT END=103317528;NT GT ./. 2 103317691 . G . . NT END=103318864;NT GT ./. 2 103317840 rs2310319 T C 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2137,C/0.7863;Gene=SLC9A2/NM_003048.4/1;CC=c.1748+150T>C;VC=Intron;DM=SLC9A2/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:545:63.45:0.00:63.45:1.00:0.00:1.00:60:46.7:0:0:98:53:19:NM_003048.3(SLC9A2) c.1748+150T>C,NM_003048.3(SLC9A2) c.1748+150T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 103317924 rs72828049 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8698,C/0.1302;Gene=SLC9A2/NM_003048.4/1;CC=c.1748+234T>C;VC=Intron;DM=SLC9A2/NEXCaM_BD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:83.0:0:0:125:25:20:NM_003048.3(SLC9A2) c.1748+234T>C,NM_003048.3(SLC9A2) c.1748+234T>C:0.14,0.14:NOT_FOUND,NOT_FOUND 2 103318962 . G . . NT END=103321002;NT GT ./. 2 103321135 . G . . NT END=103322304;NT GT ./. 2 103322396 . G . . NT END=103324577;NT GT ./. 2 103324345 rs55842730 C A 9 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8706,A/0.1294;Gene=SLC9A2/NM_003048.4/1;CC=c.2069-233C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C:8:8:0:0:3,5:96,175:8.73,0.00:8.73,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:76.3,22.8:0,0:0,0:0,49:151,101:0,16:NM_003048.3(SLC9A2) c.2069-233C>A,-:0.14,-:NOT_FOUND,- 2 103324949 . G . . NT END=103334878;NT GT ./. 2 103334969 rs1052431 G A 256 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=165;DB;DBA=NA;PAF=G/0.5895,A/0.4105;Gene=MFSD9/NM_032718.3/1;CC=c.1335C>T;ProtCh=p.G445=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:165:128:0:0:83,2,80:2655,21,2388:256.14,-0.14,0.00:178.43,-0.06,0.00:77.71,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.2,152.0,42.1:0,0,0:0,0,0:75,69,65:71,81,82:33,44,30:NM_032718.3(MFSD9) c.1335C>T (p.(=)),-:0.39,-:0.307367,- 2 103334983 rs34977505 G C 206 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=G/0.9782,A/.,C/0.02177,T/.;PC=1.000;Gene=MFSD9/NM_032718.3/1;CC=c.1321C>G;ProtCh=p.P441A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:167:128:0:0:1,73,93:11,2203,2764:-0.16,205.59,0.00:-0.08,112.19,0.00:-0.08,93.40,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:145.0,45.7,51.6:0,0,2:0,0,0:117,77,69:34,70,76:0,27,36:NM_032718.3(MFSD9) c.1321C>G (p.Pro441Ala),-:0.02,-:0.020071,- 2 103335646 rs115622745 A G 197 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.9888,G/0.01118;PC=1.000;Gene=MFSD9/NM_032718.3/1;CC=c.658T>C;ProtCh=p.W220R;VC=Missense;DM=MFSD9/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:139:55:0:0:65,2,69,3:2052,23,2048,37:0.00,-0.01,197.13,0.39:0.00,-0.10,48.37,-0.16:0.00,0.09,148.75,0.55:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:13.1,66.5,39.1,135.3:0,0,0,0:0,0,0,0:90,76,80,118:61,70,61,33:33,10,41,5:-,NM_032718.3(MFSD9) c.658T>C (p.Trp220Arg):-,0.01:-,0.017838 2 103335667 . C . . NT END=103340158;NT GT ./. 2 103335754 rs72828057 T C 59 nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.9465,C/0.05351;Gene=MFSD9/NM_032718.3/1;CC=c.638-88A>G;VC=Intron;DM=MFSD9/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:4:0:0:20,35:650,1046:58.90,0.00:1.47,0.00:57.42,0.00:1.00,0.00:0.84,0.00:1.00,0.00:60,60:52.0,29.7:0,0:0,0:118,120:32,30:10,18:NM_032718.3(MFSD9) c.638-88A>G,-:0.05,-:NOT_FOUND,- 2 103339842 rs62152141 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6132,T/0.3868;PC=0.215;Gene=MFSD9/NM_032718.3/1;CC=c.637+317G>A;VC=Intron;DM=MFSD9/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,33.0:0,0:0,0:65,25:86,125:0,4:-,NM_032718.3(MFSD9) c.637+317G>A:-,0.37:-,NOT_FOUND 2 103340014 rs398080480 AG A 62 sb,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=AG/0.01857,A/0.9814;DB;DBA=NA;PAF=AG/0.01857,A/0.9814;DB;DBA=NA;PAF=AG/0.01857,A/0.9814;NP=1083;PC=0.002;Gene=MFSD9/NM_032718.3/1;CC=c.637+144delC;VC=Intron;DM=MFSD9/MFS_1;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:AG,A:21:20:0:19:2,19:63,563:0.00,62.48:0.00,63.50:0.00,-1.02:0.00,1.00:0.00,1.00:0.00,0.94:60,60:46.0,17.5:0,0:0,0:147,48:3,101:2,32:-,NM_032718.3(MFSD9) c.637+144delC:-,NOT_FOUND:-,NOT_FOUND 2 103340369 . C . . NT END=103343303;NT GT ./. 2 103340541 rs6759290 T C 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.25,C/0.75;Gene=MFSD9/NM_032718.3/1;CC=c.428-173A>G;VC=Intron;DM=MFSD9/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:375:42.75:0.00:42.75:1.00:0.00:1.00:60:38.0:0:0:93:57:17:NM_032718.3(MFSD9) c.428-173A>G,NM_032718.3(MFSD9) c.428-173A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 103343234 rs3796061 G C 206 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.2324,C/0.7676;Gene=MFSD9/NM_032718.3/1;CC=c.427+70C>G;VC=Intron;DM=MFSD9/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C:61:57:0:0:61:1774:206.24:192.35:13.89:1.00:1.00:1.00:70:47.3:0:0:49:91:26:NM_032718.3(MFSD9) c.427+70C>G,NM_032718.3(MFSD9) c.427+70C>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 103343275 rs397803807 G GA 67 idl,rn VT=INS;SST=Single;DP=85;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=25;NP=83;PC=0.018;Gene=MFSD9/NM_032718.3/1;CC=c.427+28dupT;VC=Intron;DM=MFSD9/MFS_1;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GA,D:77:76:31:8:1,46,1,25,4:34,1404,7,944,183:1.72,0.00,-0.19,67.30,8.15:-0.22,0.00,-0.22,55.55,8.22:1.94,0.00,0.04,11.76,-0.07:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.98,0.00:60,60,60,70,60:79.0,47.2,106.0,47.8,52.5:1,0,0,6,2:0,0,0,0,0:58,81,80,49,27:93,69,71,102,124:0,38,0,32,18:-,NM_032718.3(MFSD9) c.427+28_427+29insT:-,NOT_FOUND:-,NOT_FOUND 2 103343434 . C . . NT END=103347483;NT GT ./. 2 103347528 . C . . NT END=103348780;NT GT ./. 2 103348869 . C . . NT END=103352988;NT GT ./. 2 103352305 rs201623446 G GCA 18 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5974,GA/.,GCA/.,GCGCA/0.2762,GCGCACA/0.1264,GG/.;DB;DBA=NA;PAF=NA;NP=1;NP=111;NP=157;NP=2;NP=3;NP=7;Gene=MFSD9/NM_032718.3/1;CC=c.165+799_165+800insTG;VC=Intron;DM=MFSD9/MFS_1;DM=MFSD9/MFS_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GCA:5:5:6:0:5:194:17.99:7.15:10.84:0.99:1.00:1.00:70:0.0:1:0:25:97:17:NM_032718.3(MFSD9) c.165+799_165+800insTG,NM_032718.3(MFSD9) c.165+799_165+800insTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 103353270 . A . . NT END=103378676;NT GT ./. 2 103378581 rs5833037 CT C 16 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=52;Gene=TMEM182/NM_144632.3/1;CC=c.-80delT;VC=5UTR;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:CT,C:20:22:0:13:14,6:475,357:0.00,16.15:0.00,9.12:0.00,7.03:0.00,0.91:0.00,0.99:0.00,0.77:60,60:28.6,35.2:0,6:0,0:29,33:104,111:22,23:-,NM_144632.3(TMEM182) c.-95T[15]:-,NOT_FOUND:-,NOT_FOUND 2 103378809 . G . . NT END=103379045;NT GT ./. 2 103379146 . G . . NT END=103380787;NT GT ./. 2 103380887 . G . . NT END=103414321;NT GT ./. 2 103414460 . G . . NT END=103431206;NT GT ./. 2 103428843 rs571950411 TACAC T 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9;PC=0.018;Gene=TMEM182/NM_144632.3/1;CC=c.470-2321_470-2318delACAC;VC=Intron;DM=TMEM182/Claudin_2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TACAC,T:4:4:0:3:1,3:33,100:0.00,10.45:0.00,6.75:0.00,3.70:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,24.0:0,0:0,0:88,38:40,112:0,16:-,NM_144632.3(TMEM182) c.470-2363_470-2360delACAC:-,NOT_FOUND:-,NOT_FOUND 2 103430922 rs2540322 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6486,C/0.3514;Gene=TMEM182/NM_144632.3/1;CC=c.470-285T>C;VC=Intron;DM=TMEM182/Claudin_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:6:6:0:0:4,2:86,66:8.81,0.00:8.81,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:69.0,0.0:0,0:0,0:58,20:92,130:25,9:NM_144632.3(TMEM182) c.470-285T>C,-:0.33,-:NOT_FOUND,- 2 103431404 rs887987 T C 348 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.008387,C/0.9916;PC=0.369;Gene=TMEM182/NM_144632.3/1;CC=c.667T>C;ProtCh=p.W223R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:102:62:0:0:102:2997:347.66:160.17:187.49:1.00:1.00:1.00:60:38.0:0:0:94:54:33:NM_144632.3(TMEM182) c.667T>C (p.Trp223Arg),NM_144632.3(TMEM182) c.667T>C (p.Trp223Arg):0.99,0.99:0.975012,0.975012 2 103432318 rs878802 T C 69 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.4135,C/0.5865;PC=0.001;Gene=TMEM182/NM_144632.3/1;CC=c.*891T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:41:0:0:23,39:754,1258:68.60,0.00:41.66,0.00:26.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.2,3.6:0,0:0,0:51,81:95,61:32,34:NM_144632.3(TMEM182) c.*891T>C,-:0.54,-:NOT_FOUND,- 2 103432337 rs2732822 A G 70 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.6653,G/0.3347;PC=0.541;Gene=TMEM182/NM_144632.3/1;CC=c.*910A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:42:0:0:43,24:1383,771:0.00,69.54:0.00,39.86:0.00,29.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,59.7:0,0:0,0:72,57:78,84:35,32:-,NM_144632.3(TMEM182) c.*910A>G:-,0.31:-,NOT_FOUND 2 103432969 rs58667727 C CAAT 70 rn VT=INS;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.6324,CAAT/0.3676,CAATAAT/.;DB;DBA=NA;PAF=C/0.6324,CAAT/0.3676,CAATAAT/.;NP=1;NP=57;Gene=TMEM182/NM_144632.3/1;CC=c.*1580_*1581insTAA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CAAT,D:115:69:28:5:1,84,28,2:11,2605,837,93:-0.21,0.00,69.74,3.30:-0.15,0.00,44.99,2.58:-0.06,0.00,24.75,0.72:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:64.0,10.2,2.1,22.5:0,0,0,1:0,0,0,0:1,107,55,61:150,39,96,54:0,35,23,2:-,NM_144632.3(TMEM182) c.*1578_*1580dupTAA:-,NOT_FOUND:-,NOT_FOUND 2 103433624 rs2540321 T A 133 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.594,A/0.406;PC=0.003;Gene=TMEM182/NM_144632.3/1;CC=c.*2197T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:82:60:0:0:43,1,38:1369,10,1100:133.08,-0.08,0.00:73.73,-0.01,0.00:59.35,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.7,99.0,12.9:0,0,0:0,0,0:62,15,49:82,136,92:21,0,37:NM_144632.3(TMEM182) c.*2197T>A,-:0.37,-:NOT_FOUND,- 2 103434139 . G . . NT END=103450867;NT GT ./. 2 103450788 rs75672651 G A 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.8904,A/0.1096 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:34:0:0:18,18:574,510:55.18,0.00:44.60,0.00:10.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,18.7:1,0:0,0:33,54:105,96:23,39:chr2 g.103450787G>A (intergenic),-:0.1,-:NOT_FOUND,- 2 103450876 . A . . NT END=105471968;NT GT ./. 2 103889984 rs565909876 T TACAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=19;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:T,TACAC,D:4:4:2:1:1,2,1:34,65,29:0.00,6.55,2.65:0.00,3.28,2.71:0.00,3.28,-0.06:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.89,0.00:60,60,60:0.0,6.0,57.0:0,0,0:0,0,0:141,50,45:9,68,105:0,43,0:-,chr2 g.103889984_103889985insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 104402475 rs111560383 A AGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=11;NP=117;PC=0.040;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,AGT:4:4:2:0:2,2:65,68:0.00,6.55:0.00,5.06:0.00,1.49:0.00,0.51:0.00,0.51:0.00,0.89:60,60:5.0,0.0:0,0:0,0:60,83:73,67:21,15:-,chr2 g.104402475_104402476insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 104903206 rs71918161 ATGTGTG A 7 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=ATGTGTG/0.2383,A/0.5297;DB;DBA=NA;PAF=ATGTGTG/0.2383,A/0.5297;NP=151;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:ATGTGTG,A:4:6:0:5:1,3:29,135:0.00,7.05:0.00,6.75:0.00,0.30:0.00,0.73:0.00,0.73:0.00,0.89:60,60:178.0,10.3:0,2:0,0:3,57:148,83:0,29:-,chr2 g.104903207_104903212delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 105388252 rs13003463 C G 58 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5475,G/0.4525;PC=0.400 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:4:0:0:16:502:57.83:13.07:44.76:1.00:1.00:1.00:60:62.3:0:0:75:74:33:chr2 g.105388251C>G (intergenic),chr2 g.105388251C>G (intergenic):0.44,0.44:NOT_FOUND,NOT_FOUND 2 105388360 rs13034712 T A 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7494,A/0.2506;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:4:0:0:11:353:40.55:11.48:29.06:1.00:1.00:1.00:60:49.5:0:0:84:67:28:chr2 g.105388359T>A (intergenic),chr2 g.105388359T>A (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 2 105469529 rs11342819 CA C 25 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=72;Gene=LINC01158/NR_131233.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:CA,C:9:3:0:8:1,8:32,226:0.00,25.05:0.00,6.05:0.00,19.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:56.0,20.9:0,0:0,0:150,95:1,56:0,28:-,NM_006236.1(POU3F3) c.1-u2439delA:-,1:-,NOT_FOUND 2 105471878 . CGCG C 9 rn VT=DEL;SST=Single;DP=45;PC=0.001;Gene=POU3F3/NM_006236.2/1;CC=c.-67_-65delGGC;VC=5UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:CGCG,C:45:45:0:4:41,4:1317,129:0.00,8.95:0.00,7.68:0.00,1.27:0.00,0.94:0.00,0.94:0.00,0.31:60,60:33.4,17.0:0,0:0,0:16,15:130,106:12,1:-,NM_006236.1(POU3F3) c.1-u90_1-u88delGCG:-,NOT_FOUND:-,NOT_FOUND 2 105473472 . A . . NT END=105654550;NT GT ./. 2 105629707 rs35666111 TTG T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=62;PC=0.013;Gene=LOC102724691/NR_110603.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:TTG,T:4:4:0:2:2,2:67,66:0.00,6.35:0.00,4.91:0.00,1.44:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,1.0:0,0:0,0:70,32:53,114:4,3:-,chr2 g.105629708_105629709delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 105654446 rs7587563 A G 78 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.4986,G/0.5014;PC=0.036;Gene=LOC102724691/NR_110603.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:38:0:0:19,26:593,785:0.00,77.53:0.00,54.64:0.00,22.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,48.5:0,0:0,0:44,36:86,111:29,29:-,NM_182640.2(MRPS9) c.-68-u37A>G:-,0.52:-,NOT_FOUND 2 105654686 . G . . NT END=105665628;NT GT ./. 2 105654716 rs3739160 C T 115 nt VT=SNV;PN=A;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.4702,T/0.5298;Gene=LOC102724691/NR_110603.1/0;VC=NonCoding;Gene=MRPS9/NM_182640.2/1;CC=c.135+31C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:36:0:0:35,38:1135,1188:0.00,114.93:0.00,40.14:0.00,74.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,44.5:0,0:0,0:100,103:51,47:26,22:-,NM_182640.2(MRPS9) c.135+31C>T:-,0.54:-,0.463994 2 105654830 rs3739159 G T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4842,T/0.5158;Gene=LOC102724691/NR_110603.1/0;VC=NonCoding;Gene=MRPS9/NM_182640.2/1;CC=c.135+145G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:0:0:0:12,13:360,444:0.00,43.10:0.00,0.00:0.00,43.10:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.8,51.5:0,0:0,0:91,80:60,71:31,49:-,NM_182640.2(MRPS9) c.135+145G>T:-,0.52:-,NOT_FOUND 2 105665447 rs397870241 AG A 15 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AG/0.8239,A/0.1761;DB;DBA=NA;PAF=AG/0.8239,A/0.1761;NP=79;Gene=MRPS9/NM_182640.2/1;CC=c.136-178delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:AG,A:8:8:0:5:3,5:98,151:0.00,15.18:0.00,15.18:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,127.6:0,0:0,0:44,49:107,96:35,6:-,NM_182640.2(MRPS9) c.136-181delG:-,0.19:-,NOT_FOUND 2 105665479 rs12611934 T C 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8229,C/0.1771;Gene=MRPS9/NM_182640.2/1;CC=c.136-150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:11:11:0:0:5,6:163,181:15.39,0.00:15.39,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:148.6,2.0:0,0:0,0:78,31:73,120:8,25:NM_182640.2(MRPS9) c.136-150T>C,-:0.18,-:NOT_FOUND,- 2 105665480 rs12620753 C T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8229,T/0.1771;PC=0.001;Gene=MRPS9/NM_182640.2/1;CC=c.136-149C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,T:11:11:0:0:6,5:205,153:0.00,14.37:0.00,14.37:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:2.0,148.6:0,0:0,0:32,79:119,72:25,8:-,NM_182640.2(MRPS9) c.136-149C>T:-,0.18:-,NOT_FOUND 2 105665520 rs12614222 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8233,A/0.1767;PC=0.032;Gene=MRPS9/NM_182640.2/1;CC=c.136-109G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:8,8:249,249:23.88,0.00:23.88,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:117.5,1.5:0,0:0,0:64,47:85,103:51,31:NM_182640.2(MRPS9) c.136-109G>A,-:0.19,-:NOT_FOUND,- 2 105665534 rs12611937 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.8069,C/0.1931;Gene=MRPS9/NM_182640.2/1;CC=c.136-95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:19:0:0:7,12:217,377:19.60,0.00:17.93,0.00:1.67,0.00:0.98,0.00:0.98,0.00:0.67,0.00:60,60:108.7,16.9:0,0:0,0:59,45:92,105:39,32:NM_182640.2(MRPS9) c.136-95T>C,-:0.2,-:NOT_FOUND,- 2 105665808 rs11538197 C T 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.8077,T/0.1923;PC=0.998;Gene=MRPS9/NM_182640.2/1;CC=c.315C>T;ProtCh=p.D105=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:23:0:0:23,28:678,940:0.00,92.28:0.00,36.83:0.00,55.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,36.3:0,0:0,0:93,94:41,47:28,29:-,NM_182640.2(MRPS9) c.315C>T (p.(=)):-,0.2:-,0.234036 2 105665809 . G . . NT END=105687770;NT GT ./. 2 105665921 rs3832070 GA G 11 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=GA/0.8343,G/0.1657;NP=270;PC=0.943;Gene=MRPS9/NM_182640.2/1;CC=c.315+118delA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:GA,G:14:0:0:4:10,4:311,131:0.00,11.37:0.00,0.00:0.00,11.37:0.00,0.77:0.00,0.00:0.00,0.77:60,60:28.5,23.2:0,0:0,0:126,73:24,76:20,9:-,NM_182640.2(MRPS9) c.315+114delA:-,0.17:-,NOT_FOUND 2 105665941 rs3832069 GTT G 16 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=GTT/0.8237,G/0.1763;NP=196;PC=0.035;Gene=MRPS9/NM_182640.2/1;CC=c.315+135_315+136delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:GTT,G:10:0:0:5:5,5:169,165:0.00,15.87:0.00,0.00:0.00,15.87:0.00,0.95:0.00,0.00:0.00,0.95:60,60:41.2,25.4:0,0:0,0:75,86:49,64:35,13:-,NM_182640.2(MRPS9) c.315+134_315+135delTT:-,0.18:-,NOT_FOUND 2 105665992 rs3739158 A T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8237,T/0.1763;Gene=MRPS9/NM_182640.2/1;CC=c.315+184A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,T:8:0:0:0:3,5:97,161:0.00,16.19:0.00,0.00:0.00,16.19:0.00,0.97:0.00,0.00:0.00,0.97:60,60:66.0,38.6:0,0:0,0:104,129:46,21:13,19:-,NM_182640.2(MRPS9) c.315+184A>T:-,0.19:-,NOT_FOUND 2 105665995 rs3739157 G A 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5907,A/0.4093;PC=0.024;Gene=MRPS9/NM_182640.2/1;CC=c.315+187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:8:0:0:0:3,5:87,165:7.83,0.00:0.00,0.00:7.83,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:66.0,39.6:0,0:0,0:107,59:43,92:13,57:NM_182640.2(MRPS9) c.315+187G>A,-:0.41,-:NOT_FOUND,- 2 105666102 rs17685963 T A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8237,A/0.1763;PC=0.001;Gene=MRPS9/NM_182640.2/1;CC=c.315+294T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:62.8:0:0:82:68:38:NM_182640.2(MRPS9) c.315+294T>A,NM_182640.2(MRPS9) c.315+294T>A:0.19,0.19:NOT_FOUND,NOT_FOUND 2 105687834 . G . . NT END=105687916;NT GT ./. 2 105687948 . G . . NT END=105696440;NT GT ./. 2 105696207 rs79947932 A T 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8331,T/0.1669;Gene=MRPS9/NM_182640.2/1;CC=c.410-234A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,T:4:4:0:0:2,2:63,66:0.00,6.35:0.00,6.35:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:47.0,33.0:0,0:0,0:93,38:57,112:35,2:-,NM_182640.2(MRPS9) c.410-234A>T:-,0.18:-,NOT_FOUND 2 105696521 . G . . NT END=105705441;NT GT ./. 2 105705507 rs11538198 C T 37 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8331,T/0.1669;Gene=MRPS9/NM_182640.2/1;CC=c.555C>T;ProtCh=p.L185=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:26:0:0:16,12:545,398:0.00,37.22:0.00,25.06:0.00,12.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,36.8:0,0:0,0:103,106:38,39:34,25:-,NM_182640.2(MRPS9) c.555C>T (p.(=)):-,0.18:-,0.208353 2 105705528 . G . . NT END=105706377;NT GT ./. 2 105706454 . G . . NT END=105708858;NT GT ./. 2 105706584 rs375845879 AAAAAC A 18 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=266;PC=0.013;Gene=MRPS9/NM_182640.2/1;CC=c.651+151_651+155delCAAAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:AAAAAC,A:25:1:0:7:18,7:541,208:0.00,17.71:0.00,1.66:0.00,16.05:0.00,0.96:0.00,0.52:0.00,0.96:60,70:13.4,6.4:0,0:0,0:113,59:36,91:20,22:-,NM_182640.2(MRPS9) c.651+132_651+136delAAAAC:-,0.18:-,NOT_FOUND 2 105709023 rs6543282 T C 252 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.01617,C/0.9838;Gene=MRPS9/NM_182640.2/1;CC=c.816T>C;ProtCh=p.S272=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:37:0:0:70:2186:251.56:99.47:152.09:1.00:1.00:1.00:60:37.5:0:0:110:40:26:NM_182640.2(MRPS9) c.816T>C (p.(=)),NM_182640.2(MRPS9) c.816T>C (p.(=)):0.98,0.98:0.968399,0.968399 2 105709028 . G . . NT END=105709987;NT GT ./. 2 105709145 rs77811260 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8331,T/0.1669;Gene=MRPS9/NM_182640.2/1;CC=c.820+118C>T;VC=Intron;DM=MRPS9/Ribosomal_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:11,9:351,277:0.00,26.00:0.00,0.00:0.00,26.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.8,42.3:0,0:0,0:48,62:102,88:32,42:-,NM_182640.2(MRPS9) c.820+118C>T:-,0.18:-,NOT_FOUND 2 105709754 rs142953258 T C 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9936,C/0.00639;PC=0.002;Gene=MRPS9/NM_182640.2/1;CC=c.821-234T>C;VC=Intron;DM=MRPS9/Ribosomal_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:5:0:0:2,3:70,96:6.49,0.00:6.49,0.00:0.00,0.00:0.46,0.00:0.46,0.00:0.00,0.00:60,60:35.0,3.7:0,0:0,0:33,22:118,128:2,7:NM_182640.2(MRPS9) c.821-234T>C,-:0.01,-:NOT_FOUND,- 2 105710097 . G . . NT END=105713612;NT GT ./. 2 105713697 rs15567 A G 248 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.8331,C/.,G/0.1669,T/.;Gene=MRPS9/NM_182640.2/1;CC=c.1014A>G;ProtCh=p.S338=;VC=Silent;Gene=UTAT33/NR_110227.1/0;VC=NonCoding;DM=MRPS9/Ribosomal_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:153:114:0:0:69,84:2380,2536:0.00,247.79:0.00,126.26:0.00,121.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,32.7:0,0:0,0:66,52:78,87:30,32:-,NM_182640.2(MRPS9) c.1014A>G (p.(=)):-,0.18:-,0.208827 2 105713783 . G . . NT END=105716127;NT GT ./. 2 105713868 rs10206662 A G 73 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.6991,G/0.3009;Gene=MRPS9/NM_182640.2/1;CC=c.1099+86A>G;VC=Intron;Gene=UTAT33/NR_110227.1/0;VC=NonCoding;DM=MRPS9/Ribosomal_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:8:0:0:23,23:705,757:0.00,72.81:0.00,4.56:0.00,68.25:0.00,1.00:0.00,0.87:0.00,1.00:60,60:9.2,66.5:0,0:0,0:107,121:44,29:25,20:-,NM_182640.2(MRPS9) c.1099+86A>G:-,0.32:-,NOT_FOUND 2 105713877 rs57214748 T C 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.8123,C/0.1877;Gene=MRPS9/NM_182640.2/1;CC=c.1099+95T>C;VC=Intron;Gene=UTAT33/NR_110227.1/0;VC=NonCoding;DM=MRPS9/Ribosomal_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:6:0:0:17,20:564,565:53.48,0.00:2.94,0.00:50.54,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:68.8,7.6:0,0:0,0:113,103:38,47:21,23:NM_182640.2(MRPS9) c.1099+95T>C,-:0.2,-:NOT_FOUND,- 2 105716220 . G . . NT END=105858275;NT GT ./. 2 105716266 rs9066 A G 53 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.8337,G/0.1663;Gene=MRPS9/NM_182640.2/1;CC=c.*47A>G;VC=3UTR;Gene=UTAT33/NR_110227.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:12:0:0:16,17:463,553:0.00,53.48:0.00,15.61:0.00,37.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,40.8:0,0:0,0:114,83:36,65:19,42:-,NM_182640.2(MRPS9) c.*47A>G:-,0.18:-,0.206981 2 105740135 . CCACACA C 11 idl,rn VT=DEL;SST=Single;DP=5;PC=0.001;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:5:0:5:3:165:10.56:6.96:3.60:0.78:0.78:0.87:60:10.0:2:0:37:100:7:chr2 g.105740136_105740141delCACACA (intergenic),chr2 g.105740136_105740141delCACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 105859476 . C . . NT END=105883839;NT GT ./. 2 105875187 rs59131172 TACAC T 6 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T:2:3:0:5:2:125:6.35:0.00:6.35:0.51:0.89:0.89:60:36.0:2:0:67:84:23:chr2 g.105875188_105875191delACAC (intergenic),chr2 g.105875188_105875191delACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 105883624 rs70953504 TTTCCATGTACATTCATAGAGCCTGGTCA T 24 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TTTCCATGTACATTCATAGAGCCTGGTCA/0.2015,T/0.7985;DB;DBA=NA;PAF=TTTCCATGTACATTCATAGAGCCTGGTCA/0.2015,T/0.7985;NP=15;PC=0.475;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.*188_*215delTGACCAGGCTCTATGAATGTACATGGAA;VC=3UTR;Gene=TGFBRAP1/NM_004257.5/1;CC=c.*188_*215delTGACCAGGCTCTATGAATGTACATGGAA;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTCCATGTACATTCATAGAGCCTGGTCA,T:18:18:0:9:9,9:255,254:0.00,24.12:0.00,24.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:23.3,4.1:0,0:0,0:82,57:69,94:40,15:-,NM_004257.4(TGFBRAP1) c.*160TGACCAGGCTCTATGAATGTACATGGAA[1]:-,NOT_FOUND:-,NOT_FOUND 2 105884017 . C . . NT END=105884025;NT GT ./. 2 105884259 rs77686960 T C 125 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.9427,C/0.05731;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.2407-243A>G;VC=Intron;Gene=TGFBRAP1/NM_004257.5/1;CC=c.2407-243A>G;VC=Intron;DM=TGFBRAP1/Vps39_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:100:50:0:0:42,58:1343,1810:124.78,0.00:45.56,0.00:79.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,5.4:0,0:0,0:91,61:56,84:41,40:NM_004257.4(TGFBRAP1) c.2407-243A>G,-:0.06,-:NOT_FOUND,- 2 105884329 . C . . NT END=105885728;NT GT ./. 2 105886163 . C . . NT END=105889311;NT GT ./. 2 105886219 rs2241798 C A 132 nt VT=SNV;PN=G;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.7288,A/0.2712,T/.;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.1973-57G>T;VC=Intron;Gene=TGFBRAP1/NM_004257.5/1;CC=c.1973-57G>T;VC=Intron;DM=TGFBRAP1/Clathrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:103:36:0:0:43,60:1413,1758:131.51,0.00:35.45,0.00:96.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,11.0:0,0:0,0:106,106:43,43:22,22:NM_004257.4(TGFBRAP1) c.1973-57G>T,-:0.26,-:NOT_FOUND,- 2 105889472 . C . . NT END=105890000;NT GT ./. 2 105889684 rs2250659 A G 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1817,G/0.8183;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.1813-213T>C;VC=Intron;Gene=TGFBRAP1/NM_004257.5/1;CC=c.1813-213T>C;VC=Intron;DM=TGFBRAP1/Clathrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:19:7:0:0:9,1,9:278,13,271:0.00,0.39,25.95:0.00,-0.12,5.31:0.00,0.50,20.63:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:4.1,184.0,64.6:0,0,0:0,0,0:83,149,93:67,1,52:31,0,23:-,NM_004257.4(TGFBRAP1) c.1813-213T>C:-,0.79:-,NOT_FOUND 2 105889804 rs2304543 C A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.1812+197G>T;VC=Intron;Gene=TGFBRAP1/NM_004257.5/1;CC=c.1812+197G>T;VC=Intron;DM=TGFBRAP1/Clathrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,C:11:11:0:0:4,7:116,236:10.38,0.00:10.38,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:48.2,5.4:0,0:0,0:45,36:105,114:18,25:NM_004257.4(TGFBRAP1) c.1812+197G>T,-:0.27,-:NOT_FOUND,- 2 105890148 . C . . NT END=105892016;NT GT ./. 2 105892161 . C . . NT END=105894070;NT GT ./. 2 105894129 . C . . NT END=105896838;NT GT ./. 2 105897181 . C . . NT END=105900772;NT GT ./. 2 105897261 rs2679833 C T 211 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.01298,T/0.987;PC=0.048;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.1122-81G>A;VC=Intron;Gene=TGFBRAP1/NM_004257.5/1;CC=c.1122-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:C,T:63:8:0:0:1,62:6,1828:0.00,210.70:0.00,16.46:0.00,194.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,42.0:0,0:0,0:131,104:20,40:0,30:NM_004257.4(TGFBRAP1) c.1122-81G>A,NM_004257.4(TGFBRAP1) c.1122-81G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 105900856 . C . . NT END=105912812;NT GT ./. 2 105900887 rs199775490 G GA 53 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.9872,GA/0.01278;NP=165;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.1039-33dupT;VC=Intron;Gene=TGFBRAP1/NM_004257.5/1;CC=c.1039-33dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:46:20:18:0:28,18:919,573:0.00,52.52:0.00,11.97:0.00,40.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,6.0:0,0:0,0:101,103:49,43:27,26:-,NM_004257.4(TGFBRAP1) c.1039-33_1039-32insT:-,0.01:-,0.019249 2 105912968 . C . . NT END=105914967;NT GT ./. 2 105915128 rs12476720 G A 192 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.7027,A/0.2973;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.723C>T;ProtCh=p.R241=;VC=Silent;Gene=TGFBRAP1/NM_004257.5/1;CC=c.723C>T;ProtCh=p.R241=;VC=Silent;DM=TGFBRAP1/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:92:0:0:64,87:2059,2754:191.81,0.00:83.48,0.00:108.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,14.8:0,0:0,0:83,81:48,60:36,37:NM_004257.4(TGFBRAP1) c.723C>T (p.(=)),-:0.29,-:0.191758,- 2 105915163 . C . . NT END=105924070;NT GT ./. 2 105924510 rs2241801 A G 329 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=250;DB;DBA=NA;PAF=A/0.3642,G/0.6358;PC=0.098;Gene=TGFBRAP1/NM_001142621.2/0;CC=c.249T>C;ProtCh=p.R83=;VC=Silent;Gene=TGFBRAP1/NM_004257.5/1;CC=c.249T>C;ProtCh=p.R83=;VC=Silent;DM=TGFBRAP1/CNH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:250:140:0:0:140,110:4331,3516:0.00,329.50:0.00,136.75:0.00,192.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,39.0:0,0:0,0:86,77:64,74:36,42:-,NM_004257.4(TGFBRAP1) c.249T>C (p.(=)):-,0.59:-,0.554898 2 105924776 . C . . NT END=105953930;NT GT ./. 2 105953938 . G GC 214 PASS VT=INS;SST=Single;DP=141;NP=1367;PC=0.535;Gene=C2orf49/NM_001286537.1/1;CC=c.-107_-106insC;VC=5UTR;Gene=C2orf49/NM_024093.2/0;CC=c.-107_-106insC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:141:125:69:0:72,69:2244,2235:0.00,214.13:0.00,152.83:0.00,61.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,7.2:1,0:0,0:57,59:89,87:34,30:-,NM_024093.1(C2orf49) c.-32-u75_-32-u74insC:-,0.75:-,NOT_FOUND 2 105954144 . G . . NT END=105956039;NT GT ./. 2 105956207 . G . . NT END=105959304;NT GT ./. 2 105959681 . G . . NT END=105961771;NT GT ./. 2 105961703 rs2679842 G A 36 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3648,A/0.6352;Gene=C2orf49/NM_001286537.1/1;CC=c.517-69G>A;VC=Intron;Gene=C2orf49/NM_024093.2/0;CC=c.643-69G>A;VC=Intron;DM=C2orf49/Ashwin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:12,10:370,325:36.12,0.00:36.64,0.00:-0.51,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:32.8,11.0:0,0:0,0:50,31:98,113:16,17:NM_024093.1(C2orf49) c.643-69G>A,-:0.59,-:0.550877,- 2 105961829 . A . . NT END=105977739;NT GT ./. 2 105977892 . C . . NT END=105979741;NT GT ./. 2 105977903 rs2244182 G C 93 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=in-clinvar;PAF=G/0.6945,C/0.3055;PC=0.002;Gene=FHL2/NM_001039492.2/0;CC=c.689-12C>G;VC=Intron;Gene=FHL2/NM_001450.3/0;CC=c.689-12C>G;VC=Intron;Gene=FHL2/NM_201555.1/1;CC=c.689-12C>G;VC=Intron;Gene=FHL2/NM_201557.3/0;CC=c.689-12C>G;VC=Intron;DM=FHL2/LIM;DM=FHL2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:69:29:0:0:32,37:987,1216:93.18,0.00:22.21,0.00:70.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,9.8:0,0:0,0:75,96:75,53:35,36:NM_201555.1(FHL2) c.689-12C>G,-:0.29,-:0.203291,- 2 105979929 . C . . NT END=105984026;NT GT ./. 2 105984197 . C . . NT END=105990015;NT GT ./. 2 105989716 rs6738207 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4774,A/0.5226;Gene=FHL2/NM_001039492.2/0;CC=c.331+300C>T;VC=Intron;Gene=FHL2/NM_001450.3/0;CC=c.331+300C>T;VC=Intron;Gene=FHL2/NM_201555.1/1;CC=c.331+300C>T;VC=Intron;Gene=FHL2/NM_201557.3/0;CC=c.331+300C>T;VC=Intron;DM=FHL2/LIM;DM=FHL2/GVQW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,G:5:5:0:0:3,2:92,49:9.18,0.00:9.18,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:30.7,12.5:0,0:0,0:33,76:118,74:10,38:NM_201555.1(FHL2) c.331+300C>T,-:0.5,-:NOT_FOUND,- 2 105990191 . C . . NT END=106002817;NT GT ./. 2 106002998 . C . . NT END=106013103;NT GT ./. 2 106013166 . A . . NT END=106015298;NT GT ./. 2 106013216 rs11891016 T C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.2991,C/0.7009;Gene=FHL2/NM_001039492.2/0;CC=c.-75-62A>G;VC=Intron;Gene=FHL2/NM_001450.3/0;CC=c.-25+2083A>G;VC=Intron;Gene=FHL2/NM_201555.1/1;CC=c.-196-62A>G;VC=Intron;Gene=FHL2/NM_201557.3/0;CC=c.-24-10219A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:20:0:0:22,25:662,827:62.59,0.00:13.96,0.00:48.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,4.8:0,0:0,0:122,95:26,47:21,29:NM_201555.1(FHL2) c.-196-62A>G,-:0.71,-:NOT_FOUND,- 2 106015194 rs60968240 G C 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.7935,C/0.2065;Gene=FHL2/NM_001039492.2/0;CC=c.-76+233C>G;VC=Intron;Gene=FHL2/NM_001450.3/0;CC=c.-25+105C>G;VC=Intron;Gene=FHL2/NM_201555.1/1;CC=c.-197+105C>G;VC=Intron;Gene=FHL2/NM_201557.3/0;CC=c.-24-12197C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:38:38:0:0:23,15:656,324:65.77,0.00:65.77,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:83.9,41.4:0,0:0,0:45,38:101,113:19,17:NM_201555.1(FHL2) c.-197+105C>G,-:0.21,-:NOT_FOUND,- 2 106016120 . A . . NT END=106054855;NT GT ./. 2 106016293 rs56317017 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8798,T/0.1202;Gene=FHL2/NM_201557.3/0;CC=c.-24-13296G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:9:0:0:0:3,6:68,161:0.00,16.46:0.00,0.00:0.00,16.46:0.00,0.99:0.00,0.00:0.00,0.99:60,60:50.7,53.3:0,0:0,0:110,97:40,53:38,31:-,NM_201555.1(FHL2) c.-579-u612G>A:-,0.12:-,NOT_FOUND 2 106055114 . T . . NT END=106471519;NT GT ./. 2 106361322 . T TCGC 15 rn VT=INS;SST=Single;DP=7;NP=3;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TCGC:7:6:5:0:2,5:67,141:0.00,14.62:0.00,7.31:0.00,7.31:0.00,0.98:0.00,1.00:0.00,1.00:60,60:5.0,17.6:1,0:0,0:23,32:47,74:19,26:-,NM_003581.4(NCK2) c.-276-u198_-276-u197insCGC:-,NOT_FOUND:-,NOT_FOUND 2 106471327 rs7580718 C A 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.28,A/0.72;PC=0.001;Gene=NCK2/NM_001004722.3/0;CC=c.-16-177C>A;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.-16-177C>A;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.-16-177C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,C:5:5:0:0:4,1:134,26:14.22,0.00:14.22,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:73.8,0.0:0,0:0,0:31,142:120,8:8,0:NM_003581.4(NCK2) c.-16-177C>A,-:0.69,-:NOT_FOUND,- 2 106471393 rs6543345 T C 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.04692,C/0.9531;Gene=NCK2/NM_001004722.3/0;CC=c.-16-111T>C;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.-16-111T>C;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.-16-111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C,G:17:17:0:0:16,1:513,5:58.50,0.12:58.50,0.12:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.6,28.0:0,0:0,0:31,59:119,92:18,0:NM_003581.4(NCK2) c.-16-111T>C,NM_003581.4(NCK2) c.-16-111T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 106471746 . G . . NT END=106497783;NT GT ./. 2 106471825 rs397754933 C CA 78 idl,rn VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.2654,CA/0.5901,CAA/0.1416,CAAA/0.002995;DB;DBA=NA;PAF=C/0.2654,CA/0.5901;NP=3;NP=309;Gene=NCK2/NM_001004722.3/0;CC=c.226+92dupA;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.226+92dupA;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.226+92dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA:44:1:28:0:1,17,26:15,478,836:0.31,0.00,77.95:0.00,0.00,1.71:0.31,0.00,76.23:0.00,0.00,1.00:0.00,0.00,0.71:0.00,0.00,1.00:60,60,70:15.0,11.0,28.8:0,0,2:0,0,0:130,142,101:21,7,47:0,6,21:-,NM_003581.4(NCK2) c.226+80_226+81insA:-,NOT_FOUND:-,NOT_FOUND 2 106497649 rs13003975 C A 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.8135,A/0.1865;Gene=NCK2/NM_001004722.3/0;CC=c.227-11789C>A;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.227-135C>A;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.227-135C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:57:56:0:0:25,32:796,1062:74.55,0.00:71.41,0.00:3.14,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:39.3,8.7:0,0:0,0:47,39:104,111:33,21:NM_003581.4(NCK2) c.227-135C>A,-:0.21,-:NOT_FOUND,- 2 106498506 . G . . NT END=106509437;NT GT ./. 2 106509189 rs12712223 G C 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.04073,C/0.9593;PC=0.001;Gene=NCK2/NM_001004722.3/0;CC=c.227-249G>C;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.949-249G>C;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.949-249G>C;VC=Intron;DM=NCK2/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,G:6:6:0:0:5,1:171,9:18.40,0.00:18.40,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:79.2,114.0:0,0:0,0:52,92:97,59:27,0:NM_003581.4(NCK2) c.949-249G>C,NM_003581.4(NCK2) c.949-249G>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 106509202 rs35677272 C T 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6783,T/0.3217;PC=0.002;Gene=NCK2/NM_001004722.3/0;CC=c.227-236C>T;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.949-236C>T;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.949-236C>T;VC=Intron;DM=NCK2/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:7:7:0:0:5,2:135,72:0.00,6.34:0.00,6.34:0.00,0.00:0.00,0.39:0.00,0.39:0.00,0.00:60,60:82.2,72.0:0,0:0,0:38,86:112,62:29,21:-,NM_003581.4(NCK2) c.949-236C>T:-,0.32:-,NOT_FOUND 2 106509203 rs12999097 G A 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7863,A/0.2137;PC=0.003;Gene=NCK2/NM_001004722.3/0;CC=c.227-235G>A;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.949-235G>A;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.949-235G>A;VC=Intron;DM=NCK2/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:7:7:0:0:5,2:135,72:14.03,0.00:14.30,0.00:-0.27,0.00:0.98,0.00:0.98,0.00:0.81,0.00:60,60:82.2,72.0:0,0:0,0:39,87:111,61:29,21:NM_003581.4(NCK2) c.949-235G>A,-:0.23,-:NOT_FOUND,- 2 106509301 rs34235939 C CA 15 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7169,CA/0.2831;DB;DBA=NA;PAF=C/0.7169,CA/0.2831;NP=4;PC=0.201;Gene=NCK2/NM_001004722.3/0;CC=c.227-121_227-120insA;VC=Intron;Gene=NCK2/NM_003581.4/1;CC=c.949-121_949-120insA;VC=Intron;Gene=NCK2/NM_001004720.2/0;CC=c.949-121_949-120insA;VC=Intron;DM=NCK2/SH2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,C,CA,D:15:18:8:4:1,6,5,3:21,205,256,118:1.18,0.00,15.09,7.18:-0.14,0.00,15.09,7.18:1.32,0.00,0.00,0.00:0.00,0.00,0.86,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.51,0.00:60,60,60,60:177.0,73.3,32.6,14.7:0,0,3,1:0,0,0,0:115,56,28,55:19,94,123,96:0,25,14,25:-,NM_003581.4(NCK2) c.949-137_949-136insA:-,NOT_FOUND:-,NOT_FOUND 2 106509633 . C . . NT END=106682220;NT GT ./. 2 106509907 rs10469862 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6939,T/0.3061;Gene=NCK2/NM_001004722.3/0;CC=c.*444C>T;VC=3UTR;Gene=NCK2/NM_003581.4/1;CC=c.*275C>T;VC=3UTR;Gene=NCK2/NM_001004720.2/0;CC=c.*275C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:0:0:0:1,3:30,100:0.00,10.45:0.00,0.00:0.00,10.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,39.0:0,0:0,0:6,123:144,27:0,7:-,NM_003581.4(NCK2) c.*275C>T:-,0.31:-,NOT_FOUND 2 106646550 rs77053667 A C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8377,C/0.1623;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,C:4:4:0:0:1,3:30,100:0.00,10.45:0.00,7.05:0.00,3.40:0.00,0.85:0.00,0.85:0.00,0.99:60,60:10.0,35.7:0,0:0,0:114,31:36,120:0,22:-,chr2 g.106646549A>C (intergenic):-,0.15:-,NOT_FOUND 2 106682300 . G . . NT END=106688299;NT GT ./. 2 106682340 rs73949223 G T 75 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.9688,T/0.03115;Gene=C2orf40/NM_032411.2/1;CC=c.79+41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:49:15:0:0:25,24:778,786:0.00,75.26:0.00,10.88:0.00,64.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,40.1:0,0:0,0:87,99:63,50:22,33:-,NM_032411.2(C2orf40) c.79+41G>T:-,0.03:-,0.011103 2 106688348 . G . . NT END=106690341;NT GT ./. 2 106690137 rs4851111 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5044,A/0.4956;Gene=C2orf40/NM_032411.2/1;CC=c.128-205G>A;VC=Intron;DM=C2orf40/Augurin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:13:13:0:0:7,6:228,203:22.24,0.00:22.24,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:41.3,3.3:0,0:0,0:22,36:129,113:13,33:NM_032411.2(C2orf40) c.128-205G>A,-:0.47,-:NOT_FOUND,- 2 106690493 rs41280609 C T 226 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.9756,T/0.02436;PC=0.005;Gene=C2orf40/NM_032411.2/1;CC=c.279C>T;ProtCh=p.D93=;VC=Silent;DM=C2orf40/Augurin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:146:82:0:0:75,71:2316,2361:0.00,226.16:0.00,98.76:0.00,127.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.4,38.9:0,0:0,0:106,86:44,56:24,24:-,NM_032411.2(C2orf40) c.279C>T (p.(=)):-,0.02:-,0.043672 2 106690500 . G . . NT END=106694220;NT GT ./. 2 106690542 rs35317173 G A 147 nt VT=SNV;PN=A;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.7945,A/0.2055;Gene=C2orf40/NM_032411.2/1;CC=c.285+43G>A;VC=Intron;DM=C2orf40/Augurin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:34:0:0:45,46:1524,1405:146.51,0.00:20.92,0.00:125.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,36.5:0,0:0,0:112,118:37,32:23,19:NM_032411.2(C2orf40) c.285+43G>A,-:0.22,-:0.327772,- 2 106694383 . C . . NT END=106710481;NT GT ./. 2 106710614 . C . . NT END=106713173;NT GT ./. 2 106710668 rs76407049 C CGCAGGAAGGAAGTGCCACCTT 15 sb,nt VT=INS;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.4213,CGCAGGAAGGAAGTGCCACCTT/0.5787;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4213,CGCAGGAAGGAAGTGCCACCTT/0.5787;NP=1;Gene=UXS1/NM_001253876.1/0;CC=c.628-76_628-56dupAAGGTGGCACTTCCTTCCTGC;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.1147-76_1147-56dupAAGGTGGCACTTCCTTCCTGC;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.1132-76_1132-56dupAAGGTGGCACTTCCTTCCTGC;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C,T,CGCAGGAAGGAAGTGCCACCTT:82:43:8:0:1,72,1,8:7,2259,28,220:-0.32,0.00,1.00,14.65:-0.11,0.00,-0.16,-1.35:-0.22,0.00,1.16,15.99:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.99:60,60,60,60:105.0,5.7,40.0,5.4:0,0,0,0:0,0,0,0:104,108,0,49:40,39,150,101:0,18,0,7:-,NM_001253875.1(UXS1) c.1147-56_1147-55insAAGGTGGCACTTCCTTCCTGC:-,0.67:-,NOT_FOUND 2 106713278 . C . . NT END=106715171;NT GT ./. 2 106714909 rs1869065 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2827,A/0.7173;Gene=UXS1/NM_001253876.1/0;CC=c.523+263C>T;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.1042+263C>T;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.1027+263C>T;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:139:15.81:15.81:0.00:1.00:1.00:0.00:60:81.8:0:0:52:99:11:NM_001253875.1(UXS1) c.1042+263C>T,NM_001253875.1(UXS1) c.1042+263C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 2 106714953 rs1869064 A C 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2829,C/0.7171;Gene=UXS1/NM_001253876.1/0;CC=c.523+219T>G;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.1042+219T>G;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.1027+219T>G;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:198:22.66:22.66:0.00:1.00:1.00:0.00:60:67.0:0:0:71:79:35:NM_001253875.1(UXS1) c.1042+219T>G,NM_001253875.1(UXS1) c.1042+219T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 106715230 . C . . NT END=106717513;NT GT ./. 2 106715342 rs3820891 G A 96 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=UXS1/NM_001253876.1/0;CC=c.466-113C>T;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.985-113C>T;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.970-113C>T;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:1:0:0:27:831:95.97:1.99:93.98:1.00:1.00:1.00:60:37.3:0:0:104:47:34:NM_001253875.1(UXS1) c.985-113C>T,NM_001253875.1(UXS1) c.985-113C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 106717171 rs3739135 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2831,C/0.7169;Gene=UXS1/NM_001253876.1/0;CC=c.465+343A>G;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.984+343A>G;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.969+343A>G;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:59.5:0:0:29:122:14:NM_001253875.1(UXS1) c.984+343A>G,NM_001253875.1(UXS1) c.984+343A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 106717274 rs3739136 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2833,G/0.7167;Gene=UXS1/NM_001253876.1/0;CC=c.465+240T>C;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.984+240T>C;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.969+240T>C;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,G,T:13:13:0:0:6,6,1:203,159,11:0.00,15.06,0.35:0.00,15.06,0.35:0.00,0.00,0.00:0.00,0.97,0.00:0.00,0.97,0.00:0.00,0.00,0.00:60,60,60:5.5,60.3,262.0:0,0,0:0,0,0:60,78,85:90,73,66:32,28,0:-,NM_001253875.1(UXS1) c.984+240T>C:-,0.7:-,NOT_FOUND 2 106717575 . C . . NT END=106721249;NT GT ./. 2 106717656 rs10177888 G A 190 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.2831,A/0.7169;Gene=UXS1/NM_001253876.1/0;CC=c.405-82C>T;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.924-82C>T;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.909-82C>T;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:19:0:0:52:1655:190.26:42.50:147.76:1.00:1.00:1.00:60:47.0:0:0:113:36:21:NM_001253875.1(UXS1) c.924-82C>T,NM_001253875.1(UXS1) c.924-82C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 2 106717743 rs10202208 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2831,T/0.7169;Gene=UXS1/NM_001253876.1/0;CC=c.405-169G>A;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.924-169G>A;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.909-169G>A;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:0:0:0:19:592:68.26:0.00:68.26:1.00:0.00:1.00:60:67.9:0:0:133:18:13:NM_001253875.1(UXS1) c.924-169G>A,NM_001253875.1(UXS1) c.924-169G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 2 106721008 rs144912587 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.985,T/0.01498;PC=0.955;Gene=UXS1/NM_001253876.1/0;CC=c.404+242G>A;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.923+242G>A;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.908+242G>A;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T:4:4:0:0:1,3:22,104:0.00,10.86:0.00,10.86:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:153.0,34.7:0,0:0,0:108,53:43,98:0,7:-,NM_001253875.1(UXS1) c.923+242G>A:-,0.02:-,NOT_FOUND 2 106721294 . C . . NT END=106729101;NT GT ./. 2 106721555 rs1901469 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3177,A/0.6823;Gene=UXS1/NM_001253876.1/0;CC=c.361-262C>T;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.880-262C>T;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.865-262C>T;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:125:14.83:0.00:14.83:1.00:0.00:1.00:60:59.6:0:0:110:39:23:NM_001253875.1(UXS1) c.880-262C>T,NM_001253875.1(UXS1) c.880-262C>T:0.67,0.67:NOT_FOUND,NOT_FOUND 2 106729222 . C . . NT END=106739425;NT GT ./. 2 106739548 . C . . NT END=106742075;NT GT ./. 2 106739755 rs559569198 GGA G 12 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=UXS1/NM_001253876.1/0;CC=c.119-210_119-209delTC;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.638-210_638-209delTC;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.623-210_623-209delTC;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:GGA,G:8:0:0:4:4,4:121,122:0.00,11.70:0.00,0.00:0.00,11.70:0.00,0.87:0.00,0.00:0.00,0.87:60,60:71.2,47.0:2,0:0,0:119,121:31,29:28,9:-,NM_001253875.1(UXS1) c.638-210_638-209delTC:-,NOT_FOUND:-,NOT_FOUND 2 106742136 . C . . NT END=106746129;NT GT ./. 2 106742139 rs4851925 C T 235 nt VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.03714,T/0.9629;Gene=UXS1/NM_001253876.1/0;CC=c.59-4G>A;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.578-4G>A;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.563-4G>A;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:T:63:37:0:0:63:2050:235.03:91.25:143.78:1.00:1.00:1.00:60:60.3:0:0:82:57:25:NM_001253875.1(UXS1) c.578-4G>A,NM_001253875.1(UXS1) c.578-4G>A:0.97,0.97:0.963293,0.963293 2 106742177 rs3739137 T A 188 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.2468,A/0.7532;Gene=UXS1/NM_001253876.1/0;CC=c.59-42A>T;VC=Intron;Gene=UXS1/NM_001253875.1/0;CC=c.578-42A>T;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.563-42A>T;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:A:48:21:0:0:48:1651:187.99:47.12:140.87:1.00:1.00:1.00:60:67.1:0:0:102:44:26:NM_001253875.1(UXS1) c.578-42A>T,NM_001253875.1(UXS1) c.578-42A>T:0.76,0.76:0.863904,0.863904 2 106746235 . C . . NT END=106754630;NT GT ./. 2 106754734 rs3795909 A G 666 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=175;DB;DBA=NA;PAF=A/0.4217,G/0.5783;Gene=UXS1/NM_001253876.1/0;CC=c.-151T>C;VC=5UTR;Gene=UXS1/NM_001253875.1/0;CC=c.472+6912T>C;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.457+6912T>C;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:175:133:0:0:175:5828:666.11:405.68:260.43:1.00:1.00:1.00:60:40.6:0:0:72:77:40:NM_001253875.1(UXS1) c.472+6912T>C,NM_001253875.1(UXS1) c.472+6912T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 2 106755338 . A . . NT END=106761645;NT GT ./. 2 106761827 . C . . NT END=106774513;NT GT ./. 2 106774298 rs6732473 A G 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2093,G/0.7907;Gene=UXS1/NM_001253875.1/0;CC=c.291+216T>C;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.276+216T>C;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:185:21.36:21.36:0.00:1.00:1.00:0.00:60:34.5:0:0:64:87:44:NM_001253875.1(UXS1) c.291+216T>C,NM_001253875.1(UXS1) c.291+216T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 106774575 . C . . NT END=106780122;NT GT ./. 2 106780015 rs3910716 C T 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.03075,T/0.9692;Gene=UXS1/NM_001253875.1/0;CC=c.230+108G>A;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.215+108G>A;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/UXS1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:460:52.68:52.68:0.00:1.00:1.00:0.00:60:33.9:0:0:42:108:28:NM_001253875.1(UXS1) c.230+108G>A,NM_001253875.1(UXS1) c.230+108G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 106780055 rs10631203 C CTG 75 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=999;PC=0.900;Gene=UXS1/NM_001253875.1/0;CC=c.230+67_230+68insCA;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.215+67_215+68insCA;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/UXS1_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:CTG:20:20:20:0:20:653:74.84:61.97:12.87:1.00:1.00:1.00:60:19.7:0:0:44:107:24:NM_001253875.1(UXS1) c.230+67_230+68insCA,NM_001253875.1(UXS1) c.230+67_230+68insCA:NOT_FOUND,NOT_FOUND:0.976196,0.976196 2 106780167 . C . . NT END=106781191;NT GT ./. 2 106781256 . C . . NT END=106782511;NT GT ./. 2 106782398 rs4851115 C G 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.02516,G/0.9748;Gene=UXS1/NM_001253875.1/0;CC=c.122+114G>C;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.122+114G>C;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/UXS1_N;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G,T:17:17:0:0:16,1:551,12:62.31,0.55:62.31,0.55:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.9,12.0:0,0:0,0:27,44:124,106:18,0:NM_001253875.1(UXS1) c.122+114G>C,NM_001253875.1(UXS1) c.122+114G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 106782540 . C . . NT END=106810603;NT GT ./. 2 106782719 rs6707767 A C 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.02596,C/0.974;PC=0.001;Gene=UXS1/NM_001253875.1/0;CC=c.95-180T>G;VC=Intron;Gene=UXS1/NM_025076.4/1;CC=c.95-180T>G;VC=Intron;Gene=UXS1/NR_045607.1/0;VC=NonCoding;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/GDP_Man_Dehyd;DM=UXS1/UXS1_N;DM=UXS1/GDP_Man_Dehyd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:370:42.24:0.00:42.24:1.00:0.00:1.00:60:34.6:0:0:107:43:38:NM_001253875.1(UXS1) c.95-180T>G,NM_001253875.1(UXS1) c.95-180T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 106810698 . C . . NT END=107021674;NT GT ./. 2 106810727 rs7604916 A G 243 nt VT=SNV;PN=T;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.02496,G/0.975;PC=0.994;Gene=UXS1/NM_001253875.1/0;CC=c.-30T>C;VC=5UTR;Gene=UXS1/NM_025076.4/1;CC=c.-30T>C;VC=5UTR;Gene=UXS1/NR_045607.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:G:63:36:0:0:63:2130:243.04:77.50:165.54:1.00:1.00:1.00:60:43.5:0:0:115:31:21:NM_001253875.1(UXS1) c.=,NM_001253875.1(UXS1) c.=:0.93,0.93:0.980283,0.980283 2 106870091 rs145898109 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;NP=1;NP=3076;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:78:61:0:0:9,69:299,2219:22.09,0.00:8.44,0.00:13.65,0.00:0.97,0.00:1.00,0.00:0.99,0.00:42,50:33.2,6.4:0,0:0,0:115,72:32,76:10,30:chr2 g.106870090G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 106870242 rs77674485 C T 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9726,T/0.02736;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:3:0:0:10,14:284,430:0.00,42.59:0.00,3.27:0.00,39.32:0.00,1.00:0.00,0.93:0.00,1.00:50,51:9.2,48.1:0,0:0,0:107,83:44,67:16,30:-,chr2 g.106870241C>T (intergenic):-,0.03:-,NOT_FOUND 2 106870399 rs116547894 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9752,G/0.02476;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:207:23.56:0.00:23.56:1.00:0.00:1.00:59:45.2:0:0:81:68:38:chr2 g.106870398A>G (intergenic),chr2 g.106870398A>G (intergenic):0.03,0.03:NOT_FOUND,NOT_FOUND 2 106937469 rs531246574 G GGTGTGTGTGT 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:G,GGTGTGTGTGT:3:5:4:0:1,2:36,135:0.00,6.74:0.00,5.11:0.00,1.63:0.00,0.46:0.00,0.46:0.00,0.70:60,60:97.0,71.0:0,2:0,0:116,73:28,77:0,13:-,chr2 g.106937469_106937470insGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 106937471 rs71800757 G T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5627,GGT/0.4373,GGTGT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5627,GGT/0.4373;NP=133;NP=206;NP=5;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:168:19.18:15.21:3.98:1.00:1.00:1.00:60:35.8:2:0:58:93:20:chr2 g.106937470G>T (intergenic),chr2 g.106937470G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 106961664 rs574218825 T TC 31 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.6853,TC/0.3147;DB;DBA=NA;PAF=T/0.6853,TC/0.3147;DB;DBA=NA;PAF=T/0.6853,TC/0.3147;NP=1446;PC=1.000;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TC:30:18:11:0:19,11:578,346:0.00,31.30:0.00,21.26:0.00,10.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.5,36.7:1,0:0,0:59,73:92,77:38,25:-,chr2 g.106961664_106961665insC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 106961674 rs111559558 A G 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.8858,G/0.1142;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:21:0:0:18,13:556,402:0.00,37.24:0.00,25.59:0.00,11.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,50.2:0,0:0,0:61,72:89,79:41,25:-,chr2 g.106961673A>G (intergenic):-,0.13:-,NOT_FOUND 2 106962482 . TTG T,TTGTGTG 10 idl,nt VT=INS;SST=Single;DP=4;NP=6;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:TTGTGTG,T:4:2:3:1:3,1:87,33:9.75,3.18:4.53,0.00:5.23,3.18:0.85,0.00:0.95,0.00:0.99,0.00:60,60:13.0,0.0:0,0:0,0:81,52:70,98:0,0:chr2 g.106962483_106962484delTG (intergenic),chr2 g.106962483TG[3] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 106962560 rs12991529 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3335,A/0.6665 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:1:0:0:3,1:99,33:10.35,0.00:1.83,0.00:8.53,0.00:0.85,0.00:0.83,0.00:0.85,0.00:70,60:33.0,0.0:0,0:0,0:78,128:73,22:63,0:chr2 g.106962559G>A (intergenic),-:0.67,-:NOT_FOUND,- 2 106987921 . A ATTT 7 nt VT=INS;SST=Single;DP=4;NP=3;PC=0.248;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,ATTT:3:1:3:0:1,2:29,95:0.00,6.65:0.00,1.79:0.00,4.86:0.00,0.51:0.00,0.67:0.00,0.51:60,60:24.0,74.0:0,1:0,0:130,121:21,30:0,1:-,chr2 g.106987921_106987922insTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 106988815 rs144195123 A G 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:20:0:0:25,15:736,472:0.00,42.86:0.00,16.04:0.00,26.82:0.00,1.00:0.00,1.00:0.00,1.00:60,40:8.3,41.5:0,0:0,0:61,70:90,80:48,48:-,chr2 g.106988814A>G (intergenic):-,0.71:-,NOT_FOUND 2 106992952 rs4641931 A G 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.3063,G/0.6937;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:25:0:0:19,14:612,476:0.00,44.51:0.00,18.99:0.00,25.52:0.00,1.00:0.00,1.00:0.00,1.00:60,54:7.5,42.0:0,0:0,0:72,63:55,86:35,31:-,NR_003506.3(PLGLA) n.-5618A>G:-,0.62:-,NOT_FOUND 2 106992963 rs11464214 A AG 38 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1284,AG/0.8716;NP=2534;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AG:31:20:14:0:17,14:526,404:0.00,37.71:0.00,12.90:0.00,24.80:0.00,1.00:0.00,1.00:0.00,1.00:60,54:8.8,37.7:0,0:0,0:77,64:68,86:32,28:-,NR_003506.3(PLGLA) n.-5607_-5606insG:-,NOT_FOUND:-,NOT_FOUND 2 106994382 rs62145217 A G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3057,G/0.6943;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,G:16:16:0:0:12,4:366,142:0.00,12.20:0.00,7.46:0.00,4.74:0.00,0.75:0.00,0.75:0.00,0.89:60,56:6.2,68.2:0,0:0,0:44,66:103,83:24,20:-,NR_003506.3(PLGLA) n.-4188A>G:-,0.69:-,NOT_FOUND 2 106994455 rs62145218 C T 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1406;PC=0.989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:20:13:0:0:16,4:489,133:0.00,10.87:0.00,3.85:0.00,7.02:0.00,0.71:0.00,0.90:0.00,0.87:51,40:8.1,99.2:0,0:0,0:83,108:67,42:20,11:-,NR_003506.3(PLGLA) n.-4115C>T:-,NOT_FOUND:-,NOT_FOUND 2 106994468 rs4280451 A G 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:24:15:0:0:18,6:538,188:0.00,15.81:0.00,8.62:0.00,7.19:0.00,0.92:0.00,0.97:0.00,0.59:51,40:10.2,83.7:0,0:0,0:85,102:65,48:30,30:-,NR_003506.3(PLGLA) n.-4102A>G:-,NOT_FOUND:-,NOT_FOUND 2 106994612 . CT C 21 idl,rn VT=DEL;SST=Single;DP=23;NP=17;PC=0.023;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,G,I,C:23:13:2:13:9,1,2,11:298,12,56,225:0.00,0.29,4.08,21.39:0.00,0.38,-0.16,7.50:0.00,-0.10,4.24,13.89:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,15,53,51:26.6,72.0,4.0,57.2:0,0,0,0:0,0,0,0:114,145,62,39:35,6,88,110:34,0,57,24:-,NR_003506.3(PLGLA) n.-3957delT:-,NOT_FOUND:-,NOT_FOUND 2 106994828 rs199656770 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=71;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,G:8:1:0:0:5,3:165,105:0.00,9.63:0.00,1.78:0.00,7.86:0.00,0.67:0.00,0.58:0.00,0.67:42,40:0.0,45.3:0,0:0,0:73,28:77,123:25,15:-,NR_003506.3(PLGLA) n.-3742A>G:-,NOT_FOUND:-,NOT_FOUND 2 106996741 rs4676129 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2923,G/0.7077;PC=0.275 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,G:13:13:0:0:8,5:221,169:0.00,15.55:0.00,15.55:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:8.1,70.2:0,0:0,0:36,59:114,92:30,31:-,NR_003506.3(PLGLA) n.-1829A>G:-,0.7:-,NOT_FOUND 2 106996794 rs4676130 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3053,T/0.6947;PC=0.274 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:26:0:0:15,11:452,385:0.00,36.06:0.00,30.73:0.00,5.34:0.00,1.00:0.00,1.00:0.00,0.89:60,60:13.5,49.5:0,0:0,0:29,35:122,116:23,16:-,NR_003506.3(PLGLA) n.-1776C>T:-,0.69:-,NOT_FOUND 2 106997181 rs186237559 A T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7875,T/0.2125;PC=0.961 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:45:114.2:0:0:79:72:31:NR_003506.3(PLGLA) n.-1389A>T,NR_003506.3(PLGLA) n.-1389A>T:0.17,0.17:NOT_FOUND,NOT_FOUND 2 106998377 rs10169094 G A 40 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3055,A/0.6945;PC=0.277 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:13,10:406,320:39.96,0.00:39.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.1,13.9:0,0:0,0:23,46:128,104:11,25:NR_003506.3(PLGLA) n.-193G>A,-:0.69,-:NOT_FOUND,- 2 107002646 rs4384784 G C 251 nt VT=SNV;PN=G;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.4437,C/0.5563;PC=0.009;Gene=PLGLA/NR_003506.3/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:64:0:0:68:2189:251.08:213.47:37.61:1.00:1.00:1.00:60:43.2:0:0:46:102:26:NR_003506.3(PLGLA) n.109-90G>C,NR_003506.3(PLGLA) n.109-90G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107007576 rs60043380 A T 79 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5437,T/0.4563;PC=0.629;Gene=PLGLA/NR_003506.3/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:6:0:0:21:688:78.81:17.90:60.91:1.00:1.00:1.00:56:39.3:0:0:107:44:20:NR_003506.3(PLGLA) n.566A>T,NR_003506.3(PLGLA) n.566A>T:0.45,0.45:NOT_FOUND,NOT_FOUND 2 107007994 rs373677261 TA T 71 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=995;PC=0.356;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:TA,I,T:32:21:1:25:6,1,25:187,33,667:0.00,2.19,71.38:0.00,2.24,32.75:0.00,-0.05,38.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:41,40,41:9.3,0.0,20.9:0,0,0:0,0,0:144,29,89:6,122,57:1,0,15:-,chr2 g.107007995delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 107008058 rs62145229 A G 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1101;PC=0.411 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,G:21:9:0:0:2,19:62,598:0.00,65.95:0.00,21.28:0.00,44.68:0.00,1.00:0.00,1.00:0.00,1.00:40,40:109.5,48.6:0,0:0,0:74,94:76,56:21,43:-,chr2 g.107008057A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 107008153 rs4381777 C A 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.243,A/0.757;NP=414;PC=0.187 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:15:0:0:24:723:83.66:44.93:38.74:1.00:1.00:1.00:60:52.9:0:0:46:105:38:chr2 g.107008152C>A (intergenic),chr2 g.107008152C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107008181 rs201624027 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=5;PC=0.326 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,G:29:18:0:0:4,25:102,795:7.10,0.00:5.45,0.00:1.65,0.00:0.65,0.00:0.86,0.00:0.86,0.00:40,60:51.8,40.4:0,0:0,0:26,46:124,105:0,22:chr2 g.107008180G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 107008246 rs200120911 A C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=45;PC=0.408 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,C:30:16:0:0:25,5:781,141:0.00,10.64:0.00,3.16:0.00,7.48:0.00,0.98:0.00,0.89:0.00,0.96:60,49:26.7,42.0:0,0:0,0:89,85:61,66:24,7:-,chr2 g.107008245A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 107021686 . C . . NT END=107029539;NT GT ./. 2 107029365 rs202034753 T G 137 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=205;PC=0.021;Gene=RGPD3/NM_001144013.1/1;CC=c.5266+175A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:G,T:41:41:0:0:40,1:1197,9:137.06,0.00:137.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:38.3,48.0:0,0:0,0:49,33:101,117:40,0:NM_001144013.1(RGPD3) c.5266+175A>C,NM_001144013.1(RGPD3) c.5266+175A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107029742 . C . . NT END=107032305;NT GT ./. 2 107032130 . C CA 16 idl,rn VT=INS;SST=Single;DP=43;NP=1;PC=0.147;Gene=RGPD3/NM_001144013.1/1;CC=c.5064+175_5064+176insT;VC=Intron;DM=RGPD3/Rab_bind;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:C,CA,D:32:43:14:10:19,7,6:614,403,313:0.00,15.90,15.59:0.00,15.90,15.59:0.00,0.00,0.00:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.00,0.00:49,41,42:17.9,57.6,77.8:0,7,4:0,0,0:89,19,42:55,130,108:46,11,18:-,NM_001144013.1(RGPD3) c.5064+175_5064+176insT:-,NOT_FOUND:-,NOT_FOUND 2 107032279 rs6543411 T C 953 nt VT=SNV;PN=T;NN=A;SST=Single;DP=256;DB;DBA=NA;PAF=T/0.1292,C/0.8708;Gene=RGPD3/NM_001144013.1/1;CC=c.5064+27A>G;VC=Intron;DM=RGPD3/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:256:222:0:0:252,4:8401,37:953.45,0.00:698.58,0.00:254.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:58,60:38.8,156.0:0,0:0,0:54,135:94,11:30,10:NM_001144013.1(RGPD3) c.5064+27A>G,NM_001144013.1(RGPD3) c.5064+27A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 107032446 . C . . NT END=107039498;NT GT ./. 2 107035515 . A C 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;Gene=RGPD3/NM_001144013.1/1;CC=c.4925-3070T>G;VC=Intron;DM=RGPD3/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,C,T:9:6:0:0:2,6,1:32,180,9:0.00,18.87,0.40:0.00,9.07,0.40:0.00,9.80,0.00:0.00,0.99,0.00:0.00,0.93,0.00:0.00,0.97,0.00:41,35,23:84.5,37.2,161.0:0,0,0:0,0,0:99,6,27:51,143,124:30,4,0:-,NM_001144013.1(RGPD3) c.4925-3070T>G:-,NOT_FOUND:-,NOT_FOUND 2 107036473 rs62155244 C T 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9902,T/0.009784;NP=42;Gene=RGPD3/NM_001144013.1/1;CC=c.4924+3026G>A;VC=Intron;DM=RGPD3/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:7,8:219,235:0.00,22.81:0.00,0.00:0.00,22.81:0.00,1.00:0.00,0.00:0.00,1.00:24,27:1.4,42.1:0,0:0,0:118,116:33,34:16,18:-,NM_001144013.1(RGPD3) c.4924+3026G>A:-,NOT_FOUND:-,NOT_FOUND 2 107040564 rs55993306 C T 864 lc VT=SNV;PN=T;NN=A;SST=Single;DP=580;DB;DBA=NA;PAF=NA;PC=1.000;Gene=RGPD3/NM_001144013.1/1;CC=c.3859G>A;ProtCh=p.E1287K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:580:360:0:0:287,3,290:9507,34,8994:0.00,-0.40,863.69:0.00,-0.17,467.67:0.00,-0.23,396.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:58,40,57:6.6,73.7,39.1:1,0,0:0,0,0:72,91,82:76,60,66:40,10,41:-,NM_001144013.1(RGPD3) c.3859G>A (p.Glu1287Lys):-,0.15:-,0.206437 2 107041723 . C . . NT END=107042449;NT GT ./. 2 107042413 . G A 101 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=103;NP=1624;PC=0.997;Gene=RGPD3/NM_001144013.1/1;CC=c.2700+37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:103:102:0:0:35,67,1:1127,2050,10:100.90,0.00,-0.19:101.17,0.00,-0.19:-0.27,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:0.64,0.00,0.00:6,40,29:34.3,7.7,69.0:0,0,0:0,0,0:73,56,13:78,95,124:28,36,0:NM_001144013.1(RGPD3) c.2700+37C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 107042545 . C . . NT END=107046101;NT GT ./. 2 107042610 . G T 50 nt VT=SNV;PN=G;NN=C;SST=Single;DP=160;NP=463;PC=0.985;Gene=RGPD3/NM_001144013.1/1;CC=c.2606-66C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:160:30:0:0:1,138,21:32,4413,670:1.11,0.00,50.13:-0.04,0.00,9.37:1.15,0.00,40.76:0.00,0.00,1.00:0.00,0.00,0.95:0.00,0.00,1.00:44,57,40:32.0,22.2,52.9:0,0,0:0,0,0:113,105,108:37,40,34:0,29,15:-,NM_001144013.1(RGPD3) c.2606-66C>A:-,NOT_FOUND:-,NOT_FOUND 2 107042620 rs371930568 C T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=145;DB;DBA=NA;PAF=NA;NP=970;PC=0.983;Gene=RGPD3/NM_001144013.1/1;CC=c.2606-76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:145:17:0:0:1,124,20:9,4034,640:-0.32,0.00,48.37:-0.03,0.00,3.86:-0.29,0.00,44.50:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:9,57,42:9.0,20.4,55.6:0,0,0:0,0,0:41,104,125:109,41,17:0,30,14:-,NM_001144013.1(RGPD3) c.2606-76G>A:-,NOT_FOUND:-,NOT_FOUND 2 107046238 . C . . NT END=107049390;NT GT ./. 2 107046379 rs832367 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=4;Gene=RGPD3/NM_001144013.1/1;CC=c.2470-142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:52:3:0:0:8,44:250,1433:19.14,0.00:2.56,0.00:16.58,0.00:0.96,0.00:0.44,0.00:1.00,0.00:27,60:50.6,15.3:0,0:0,0:51,41:99,109:11,18:NM_001144013.1(RGPD3) c.2470-142C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 107046496 rs115227009 C T 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8119,T/0.1881;PC=0.001;Gene=RGPD3/NM_001144013.1/1;CC=c.2470-259G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:1:0:0:21,12:554,383:0.00,34.69:0.00,-0.10:0.00,34.78:0.00,1.00:0.00,0.58:0.00,1.00:55,51:18.2,41.8:0,0:0,0:112,133:39,16:28,14:-,NM_001144013.1(RGPD3) c.2470-259G>A:-,0.18:-,NOT_FOUND 2 107049234 rs372473366 T TA 21 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.276;Gene=RGPD3/NM_001144013.1/1;CC=c.2469+156_2469+157insT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:17:19:10:2:8,8,1:250,286,36:0.00,20.93,-0.16:0.00,19.05,-0.16:0.00,1.88,0.00:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.60,0.00:56,50,39:32.8,94.8,0.0:0,2,1:0,0,0:100,27,77:46,123,72:34,18,21:-,NM_001144013.1(RGPD3) c.2469+156_2469+157insT:-,NOT_FOUND:-,NOT_FOUND 2 107049475 . C . . NT END=107049561;NT GT ./. 2 107049742 . C . . NT END=107050683;NT GT ./. 2 107050831 . C . . NT END=107051092;NT GT ./. 2 107051231 . C . . NT END=107051496;NT GT ./. 2 107051659 . C . . NT END=107052578;NT GT ./. 2 107052352 rs62152470 A C 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=371;Gene=RGPD3/NM_001144013.1/1;CC=c.1758+227T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,C,G,T:30:30:0:0:24,4,1,1:712,141,9,8:0.00,11.02,-0.13,-0.18:0.00,11.02,-0.13,-0.18:0.00,0.00,0.00,0.00:0.00,0.64,0.00,0.00:0.00,0.64,0.00,0.00:0.00,0.00,0.00,0.00:40,27,40,24:7.3,35.2,116.0,173.0:0,0,0,0:0,0,0,0:48,52,71,55:102,98,52,80:18,8,0,0:-,NM_001144013.1(RGPD3) c.1758+227T>G:-,NOT_FOUND:-,NOT_FOUND 2 107052703 . C . . NT END=107052869;NT GT ./. 2 107053046 . C . . NT END=107053128;NT GT ./. 2 107053311 . C . . NT END=107055423;NT GT ./. 2 107055634 . C . . NT END=107057748;NT GT ./. 2 107057565 . AT A 15 rn VT=DEL;SST=Single;DP=26;NP=20;PC=0.001;Gene=RGPD3/NM_001144013.1/1;CC=c.1066+183delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:AT,A:26:26:0:6:20,6:652,186:0.00,15.36:0.00,15.36:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:56,52:35.4,1.8:0,0:0,0:18,19:132,132:12,11:-,NM_001144013.1(RGPD3) c.1066+183delA:-,NOT_FOUND:-,NOT_FOUND 2 107057642 rs62152472 A T 140 nt VT=SNV;PN=T;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.8758,T/0.1242;Gene=RGPD3/NM_001144013.1/1;CC=c.1066+107T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:80:80:0:0:36,44:1121,1428:0.00,139.93:0.00,139.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:52,56:10.1,41.5:0,0:0,0:34,62:117,88:24,28:-,NM_001144013.1(RGPD3) c.1066+107T>A:-,0.13:-,NOT_FOUND 2 107057837 . C . . NT END=107063873;NT GT ./. 2 107064070 . C . . NT END=107068660;NT GT ./. 2 107068807 . C . . NT END=107069151;NT GT ./. 2 107069027 rs199962899 C T 63 nt VT=SNV;PN=T;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=252;Gene=RGPD3/NM_001144013.1/1;CC=c.636+125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:104:59:0:0:81,23:2411,762:0.00,63.33:0.00,37.84:0.00,25.50:0.00,1.00:0.00,1.00:0.00,1.00:27,27:13.8,41.3:0,0:0,0:106,98:43,53:21,22:-,NM_001144013.1(RGPD3) c.636+125G>A:-,NOT_FOUND:-,NOT_FOUND 2 107069100 rs2580991 T G 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=245;PC=0.002;Gene=RGPD3/NM_001144013.1/1;CC=c.636+52A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:14:0:0:11,19:317,566:28.39,0.00:11.52,0.00:16.87,0.00:1.00,0.00:0.99,0.00:1.00,0.00:27,27:34.8,22.7:0,0:0,0:138,139:13,11:9,6:NM_001144013.1(RGPD3) c.636+52A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 107069383 . C . . NT END=107073426;NT GT ./. 2 107073469 rs62152528 T A 749 lc VT=SNV;PN=C;NN=G;SST=Single;DP=241;DB;DBA=NA;PAF=NA;PC=0.999;Gene=RGPD3/NM_001144013.1/1;CC=c.363A>T;ProtCh=p.A121=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:241:178:0:0:207,1,33:6925,32,1092:749.43,1.24,0.00:384.48,1.24,0.00:364.96,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:59,44,40:68.3,65.0,36.5:0,0,0:0,0,0:65,70,38:83,76,113:34,0,22:NM_001144013.1(RGPD3) c.363A>T (p.(=)),-:0.77,-:NOT_FOUND,- 2 107073489 rs199932968 C T 83 sb,lc VT=SNV;PN=T;NN=T;SST=Single;DP=259;DB;DBA=NA;PAF=NA;NP=63;PC=1.000;Gene=RGPD3/NM_001144013.1/1;CC=c.343G>A;ProtCh=p.E115K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:259:179:0:0:224,35:7538,1113:0.00,83.49:0.00,90.61:0.00,-7.12:0.00,1.00:0.00,1.00:0.00,1.00:59,40:66.2,38.9:0,0:0,0:72,53:77,96:33,20:-,NM_001144013.1(RGPD3) c.343G>A (p.Glu115Lys):-,NOT_FOUND:-,NOT_FOUND 2 107073501 rs62152530 C T 757 lc VT=SNV;PN=T;NN=A;SST=Single;DP=269;DB;DBA=NA;PAF=NA;PC=1.000;Gene=RGPD3/NM_001144013.1/1;CC=c.331G>A;ProtCh=p.D111N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:269:186:0:0:45,2,222:1515,24,7043:0.00,0.11,757.33:0.00,-0.06,347.17:0.00,0.17,410.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,40,53:30.1,68.0,64.8:0,0,0:0,0,0:56,24,84:92,126,66:32,10,33:-,NM_001144013.1(RGPD3) c.331G>A (p.Asp111Asn):-,0.77:-,NOT_FOUND 2 107073580 . C . . NT END=107074022;NT GT ./. 2 107073736 rs56077036 C A 340 nt VT=SNV;PN=T;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=0.672;Gene=RGPD3/NM_001144013.1/1;CC=c.253-157G>T;VC=Intron;DM=RGPD3/TPR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:93:4:0:0:93:2958:340.04:15.21:324.83:1.00:1.00:1.00:51:45.3:0:0:100:51:32:NM_001144013.1(RGPD3) c.253-157G>T,NM_001144013.1(RGPD3) c.253-157G>T:0.84,0.84:NOT_FOUND,NOT_FOUND 2 107073804 rs60279773 C T 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=692;Gene=RGPD3/NM_001144013.1/1;CC=c.252+219G>A;VC=Intron;DM=RGPD3/TPR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:74:26:0:0:2,53,19:17,1797,579:-0.30,0.00,48.92:-0.23,0.00,18.06:-0.07,0.00,30.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,51,51:38.0,25.5,64.8:0,0,0:0,0,0:73,63,99:78,88,51:39,49,34:-,NM_001144013.1(RGPD3) c.252+219G>A:-,NOT_FOUND:-,NOT_FOUND 2 107074135 . C . . NT END=107075720;NT GT ./. 2 107074159 rs62152532 G C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.011;Gene=RGPD3/NM_001144013.1/1;CC=c.141-25C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:29:0:0:0:10,19:298,569:26.44,0.00:0.00,0.00:26.44,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,40:36.7,25.9:0,0:0,0:113,95:37,55:18,22:NM_001144013.1(RGPD3) c.141-25C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 107074172 rs62152533 A G 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=176;PC=0.002;Gene=RGPD3/NM_001144013.1/1;CC=c.141-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,G:27:0:0:0:20,7:624,209:0.00,17.53:0.00,0.00:0.00,17.53:0.00,0.96:0.00,0.00:0.00,0.96:40,40:29.9,48.4:0,0:0,0:108,108:41,42:23,22:-,NM_001144013.1(RGPD3) c.141-38T>C:-,NOT_FOUND:-,NOT_FOUND 2 107074233 rs1837481 C T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=46;Gene=RGPD3/NM_001144013.1/1;CC=c.141-99G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:9:0:0:0:6,3:164,95:0.00,8.45:0.00,0.00:0.00,8.45:0.00,0.96:0.00,0.00:0.00,0.96:40,27:42.0,69.7:0,0:0,0:115,110:35,41:24,37:-,NM_001144013.1(RGPD3) c.141-99G>A:-,NOT_FOUND:-,NOT_FOUND 2 107075366 rs202217788 T C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;PC=0.004;Gene=RGPD3/NM_001144013.1/1;CC=c.140+355A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:5:5:0:0:4,1:140,33:14.82,0.00:14.82,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:40,2:71.5,0.0:0,0:0,0:33,31:117,119:4,0:NM_001144013.1(RGPD3) c.140+355A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 107075452 rs2919189 T C 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=13;PC=0.122;Gene=RGPD3/NM_001144013.1/1;CC=c.140+269A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:11,12:373,387:35.63,0.00:35.63,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:40,40:47.7,4.0:0,0:0,0:64,47:86,103:40,28:NM_001144013.1(RGPD3) c.140+269A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 107075639 rs200459166 T C 238 nt VT=SNV;PN=A;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=804;Gene=RGPD3/NM_001144013.1/1;CC=c.140+82A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:85:81:0:0:71,14:2205,400:237.72,0.00:233.31,0.00:4.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:37.5,25.3:0,0:0,0:49,105:102,46:40,35:NM_001144013.1(RGPD3) c.140+82A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 107075660 rs200897447 G T 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=16;Gene=RGPD3/NM_001144013.1/1;CC=c.140+61C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:102:85:0:0:1,86,15:9,2776,465:-0.30,0.00,35.25:-0.25,0.00,5.11:-0.04,0.00,30.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.95:24,40,40:169.0,29.5,37.8:0,0,0:0,0,0:64,43,29:87,107,121:0,30,11:-,NM_001144013.1(RGPD3) c.140+61C>A:-,NOT_FOUND:-,NOT_FOUND 2 107075789 . C . . NT END=107084672;NT GT ./. 2 107082016 rs61300174 C CT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=57;PC=0.094;Gene=RGPD3/NM_001144013.1/1;CC=c.72+2656dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:CT:4:5:5:0:4:125:10.43:10.43:0.00:0.96:0.96:0.00:42:25.8:1:0:51:99:15:NM_001144013.1(RGPD3) c.72+2656_72+2657insA,NM_001144013.1(RGPD3) c.72+2656_72+2657insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107082184 . A AT 12 idl,rn VT=INS;SST=Single;DP=45;NP=1;Gene=RGPD3/NM_001144013.1/1;CC=c.72+2488dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,AT,D:44:45:5:6:34,5,5:999,166,182:0.00,12.49,11.19:0.00,12.49,11.19:0.00,0.00,0.00:0.00,0.74,0.00:0.00,0.74,0.00:0.00,0.00,0.00:60,55,55:37.3,5.0,9.4:1,0,1:0,0,0:46,60,33:103,91,97:32,20,27:-,NM_001144013.1(RGPD3) c.72+2488_72+2489insA:-,NOT_FOUND:-,NOT_FOUND 2 107082719 rs11689251 G A 531 nt VT=SNV;PN=C;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=620;PC=0.129;Gene=RGPD3/NM_001144013.1/1;CC=c.72+1954C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:153:66:0:0:152,1:4594,9:530.96,0.06:167.65,0.00:363.32,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,54:61.0,66.0:0,0:0,0:85,53:63,98:37,0:NM_001144013.1(RGPD3) c.72+1954C>T,NM_001144013.1(RGPD3) c.72+1954C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107082755 rs11689255 G T 445 nt VT=SNV;PN=C;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;Gene=RGPD3/NM_001144013.1/1;CC=c.72+1918C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:123:56:0:0:123:3862:444.54:138.50:306.04:1.00:1.00:1.00:60:70.3:0:0:98:52:34:NM_001144013.1(RGPD3) c.72+1918C>A,NM_001144013.1(RGPD3) c.72+1918C>A:0.76,0.76:NOT_FOUND,NOT_FOUND 2 107082912 rs184609270 T A 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.222;Gene=RGPD3/NM_001144013.1/1;CC=c.72+1761A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A,C,G:15:0:0:0:12,2,1:377,21,11:42.23,1.43,0.51:0.00,0.00,0.00:42.23,1.43,0.51:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:49,40,29:94.6,71.0,82.0:0,0,0:0,0,0:123,22,63:23,128,88:16,3,0:NM_001144013.1(RGPD3) c.72+1761A>T,NM_001144013.1(RGPD3) c.72+1761A>T:0.12,0.12:NOT_FOUND,NOT_FOUND 2 107082918 rs372568216 G A 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=94;PC=0.502;Gene=RGPD3/NM_001144013.1/1;CC=c.72+1755C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:15:0:0:0:10,5:327,94:33.38,0.00:0.00,0.00:33.38,0.00:1.00,0.00:0.00,0.00:1.00,0.00:49,40:95.2,88.4:0,0:0,0:129,62:17,89:15,24:NM_001144013.1(RGPD3) c.72+1755C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 107082923 . G C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;PC=0.316;Gene=RGPD3/NM_001144013.1/1;CC=c.72+1750C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:C,G:13:0:0:0:5,8:113,262:9.89,0.00:0.00,0.00:9.89,0.00:0.91,0.00:0.00,0.00:0.91,0.00:40,45:89.4,97.0:0,0:0,0:37,125:113,16:30,11:NM_001144013.1(RGPD3) c.72+1750C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 107083989 rs62152542 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=RGPD3/NM_001144013.1/1;CC=c.72+684A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:125:14.41:7.15:7.25:1.00:1.00:1.00:54:109.2:2:0:30:120:18:NM_001144013.1(RGPD3) c.72+684A>G,NM_001144013.1(RGPD3) c.72+684A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 107084012 rs74180278 G A,C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:4:3:0:0:3,1:103,10:11.36,0.88:7.55,0.00:3.80,0.88:0.85,0.00:0.99,0.00:0.99,0.00:54,41:102.0,146.0:0,0:0,0:47,59:102,92:24,0:NM_001144013.1(RGPD3) c.72+661C>T,NM_001144013.1(RGPD3) c.72+661C>G:0.3,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107084739 rs6718521 A G 607 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=360;DB;DBA=NA;PAF=A/0.5589,C/.,G/0.4411;PC=1.000;Gene=RGPD3/NM_001144013.1/1;CC=c.6T>C;ProtCh=p.S2=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:360:246:0:0:177,182,1:5654,6281,8:0.00,606.88,-0.21:0.00,302.11,-0.09:0.00,304.77,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.4,39.5,159.0:0,0,0:0,0,0:78,96,67:60,50,84:33,25,0:-,NM_001144013.1(RGPD3) c.6T>C (p.(=)):-,0.41:-,NOT_FOUND 2 107084745 . C . . NT END=107423133;NT GT ./. 2 107087074 rs200204138 C G 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8205,G/0.1795;NP=107;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:5:5:0:0:2,3:68,78:0.00,7.73:0.00,7.73:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:40,40:0.0,43.3:0,0:0,0:60,26:89,125:43,13:-,NM_001144013.1(RGPD3) c.-57-u2273G>C:-,NOT_FOUND:-,NOT_FOUND 2 107091817 rs371088137 C CTT 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=32;PC=0.725;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CTT:4:4:4:0:4:126:14.51:14.51:0.00:1.00:1.00:0.00:51:68.8:0:0:33:117:11:NM_001144013.1(RGPD3) c.-57-u7017_-57-u7016insAA,NM_001144013.1(RGPD3) c.-57-u7017_-57-u7016insAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107091826 rs4556971 A C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2556,C/0.7444;PC=0.667 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:51:68.8:0:0:44:106:11:NM_001144013.1(RGPD3) c.-57-u7025T>G,NM_001144013.1(RGPD3) c.-57-u7025T>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 107091864 rs12471101 C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.881,T/0.119 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:C,T:4:4:0:0:1,3:21,102:0.00,10.66:0.00,10.66:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:51,43:35.0,80.0:0,0:0,0:69,92:82,59:0,20:-,NM_001144013.1(RGPD3) c.-57-u7063G>A:-,0.13:-,NOT_FOUND 2 107092393 rs62153962 T C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.9265,C/0.07348;PC=0.272 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:7,13:244,390:22.12,0.00:0.00,0.00:22.12,0.00:0.97,0.00:0.00,0.00:0.97,0.00:56,55:34.9,16.0:0,0:0,0:70,68:80,82:34,20:chr2 g.107092392T>C (intergenic),-:0.06,-:NOT_FOUND,- 2 107096449 rs201224782 A AATTG 29 sb,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.02815,AATTG/0.9718;PC=0.615;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:AATTG:8:8:8:0:8:247:28.51:26.58:1.94:1.00:1.00:1.00:60:15.5:0:0:39:111:28:chr2 g.107096449_107096450insATTG (intergenic),chr2 g.107096449_107096450insATTG (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 2 107096581 . GT G 7 rn VT=DEL;SST=Single;DP=14;NP=2;PC=0.002;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:GT,G:14:8:0:3:11,3:330,91:0.00,7.38:0.00,0.89:0.00,6.49:0.00,0.56:0.00,0.81:0.00,0.92:70,57:14.6,11.3:0,0:0,0:98,51:52,99:28,27:-,chr2 g.107096582delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 107103621 rs62153980 G C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2011,C/0.7989;NP=525 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:164:18.78:18.78:0.00:1.00:1.00:0.00:42:35.4:0:0:42:108:33:chr2 g.107103620G>C (intergenic),chr2 g.107103620G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107103773 rs60489895 GC G 81 rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GC,G:30:29:0:27:3,27:62,730:0.00,81.02:0.00,74.67:0.00,6.35:0.00,1.00:0.00,1.00:0.00,1.00:45,59:127.0,39.7:0,0:0,0:41,54:108,97:9,34:chr2 g.107103774delC (intergenic),chr2 g.107103774delC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107103779 . C A 43 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:30:29:0:0:15,15:453,446:43.41,0.00:41.29,0.00:2.12,0.00:1.00,0.00:1.00,0.00:0.73,0.00:50,45:49.5,55.9:14,14:0,0:62,28:89,123:40,18:chr2 g.107103778C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 107107110 rs55762809 G A 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8942,A/0.1058 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:12:12:0:0:3,9:97,312:8.20,0.00:8.20,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:55,60:32.3,35.4:0,0:0,0:13,62:138,86:4,53:chr2 g.107107109G>A (intergenic),-:0.09,-:NOT_FOUND,- 2 107107190 rs62153983 T C 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:28:0:0:9,19:296,572:26.26,0.00:24.47,0.00:1.79,0.00:0.99,0.00:0.99,0.00:0.55,0.00:42,60:54.6,19.7:0,0:0,0:50,46:101,104:26,20:chr2 g.107107189T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 107107302 rs62153984 C T 58 nt VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:68:0:0:65,20:2032,683:0.00,57.73:0.00,22.04:0.00,35.70:0.00,1.00:0.00,1.00:0.00,1.00:60,44:6.5,41.6:0,0:0,0:50,80:95,70:27,16:-,chr2 g.107107301C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 107107567 rs2228021 G C 322 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.2666,C/0.7334,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:92:59:0:0:92:2789:322.34:152.07:170.27:1.00:1.00:1.00:60:41.9:0:0:81:65:31:chr2 g.107107566G>C (intergenic),chr2 g.107107566G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107107694 rs6543414 A G 245 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.01458,G/0.9854;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:65:31:0:0:65:2144:245.32:76.37:168.95:1.00:1.00:1.00:56:57.9:0:0:89:62:28:chr2 g.107107693A>G (intergenic),chr2 g.107107693A>G (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 107107765 rs6543415 C A 146 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.01518,A/0.9848 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:A:39:10:0:0:39:1271:145.66:20.88:124.79:1.00:1.00:1.00:60:65.4:0:0:115:36:17:chr2 g.107107764C>A (intergenic),chr2 g.107107764C>A (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 107112874 rs6734823 T C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.009185,C/0.9908;NP=907 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:242:27.54:0.00:27.54:1.00:0.00:1.00:60:43.9:0:0:60:90:34:chr2 g.107112873T>C (intergenic),chr2 g.107112873T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 107118896 rs4340514 T C 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.03195,C/0.9681 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:28:0:0:32:962:111.39:80.30:31.08:1.00:1.00:1.00:52:39.1:0:0:34:113:19:chr2 g.107118895T>C (intergenic),chr2 g.107118895T>C (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 2 107119136 rs4365459 G C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.04533,C/0.9547 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:1:0:0:11:383:43.55:2.04:41.51:1.00:1.00:1.00:60:34.8:0:0:99:51:22:chr2 g.107119135G>C (intergenic),chr2 g.107119135G>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 2 107120812 rs62154001 T A 109 nt VT=SNV;PN=G;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.881,A/0.119 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:100:73:0:0:38,62:1199,1927:109.18,0.00:64.85,0.00:44.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,9.8:0,0:0,0:75,61:63,88:31,31:chr2 g.107120811T>A (intergenic),-:0.12,-:NOT_FOUND,- 2 107121040 rs146000492 T TA 95 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.08786,TA/0.9121;NP=86;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:T,TA:34:15:28:0:6,28:175,885:0.00,94.98:0.00,36.71:0.00,58.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,5.0:0,0:0,0:145,72:4,78:2,44:-,chr2 g.107121040_107121041insA (intergenic):-,0.89:-,NOT_FOUND 2 107122174 rs62154004 C T 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.9277,T/0.07228 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:25:0:0:26,19:824,614:0.00,57.16:0.00,20.28:0.00,36.88:0.00,1.00:0.00,1.00:0.00,1.00:50,42:2.9,36.3:0,0:0,0:84,79:66,72:36,48:-,chr2 g.107122173C>T (intergenic):-,0.06:-,NOT_FOUND 2 107423188 rs1470591 G A 306 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.7815,A/0.2185;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1536C>T;ProtCh=p.P512=;VC=Silent;Gene=ST6GAL2/NM_032528.2/1;CC=c.1536C>T;ProtCh=p.P512=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:81:66:0:0:80,1:2684,11:306.03,0.15:185.39,0.15:120.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,86.0:0,0:0,0:64,44:79,103:27,0:NM_032528.2(ST6GAL2) c.1536C>T (p.(=)),NM_032528.2(ST6GAL2) c.1536C>T (p.(=)):0.26,0.26:0.381209,0.381209 2 107423395 rs1470590 T G 283 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.5909,G/0.4091;PC=1.000;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1329A>C;ProtCh=p.I443=;VC=Silent;Gene=ST6GAL2/NM_032528.2/1;CC=c.1329A>C;ProtCh=p.I443=;VC=Silent;DM=ST6GAL2/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:38:0:0:75:2469:282.55:98.94:183.61:1.00:1.00:1.00:60:45.5:0:0:90:54:34:NM_032528.2(ST6GAL2) c.1329A>C (p.(=)),NM_032528.2(ST6GAL2) c.1329A>C (p.(=)):0.43,0.43:0.551668,0.551668 2 107423406 . C . . NT END=107429531;NT GT ./. 2 107429570 rs373534739 G GT 21 idl,rn VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=1;NP=5;PC=0.474;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1319-6166_1319-6165insA;VC=Intron;Gene=ST6GAL2/NM_032528.2/1;CC=c.1319-6166_1319-6165insA;VC=Intron;Gene=ST6GAL2/NM_001142352.1/0;CC=c.*27_*28insA;VC=3UTR;DM=ST6GAL2/Glyco_transf_29;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:G,GT,D:71:55:12:8:55,9,7:1731,370,246:0.00,21.27,15.10:0.00,13.59,5.26:0.00,7.68,9.84:0.00,0.97,0.00:0.00,0.99,0.00:0.00,0.99,0.00:60,60,60:30.8,49.0,6.7:0,3,1:0,0,0:96,75,79:41,70,71:25,12,31:-,NM_032528.2(ST6GAL2) c.1319-6166_1319-6165insA:-,NOT_FOUND:-,NOT_FOUND 2 107429681 . C . . NT END=107446521;NT GT ./. 2 107429801 rs6739022 C T 98 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.4499,T/0.5501;PC=0.994;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1319-6396G>A;VC=Intron;Gene=ST6GAL2/NM_032528.2/1;CC=c.1319-6396G>A;VC=Intron;Gene=ST6GAL2/NM_001142352.1/0;CC=c.1319-121G>A;VC=Intron;DM=ST6GAL2/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:2:0:0:28:847:97.96:5.42:92.55:1.00:1.00:1.00:60:36.9:0:0:93:57:34:NM_032528.2(ST6GAL2) c.1319-6396G>A,NM_032528.2(ST6GAL2) c.1319-6396G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 107446370 rs5833213 GA G 50 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2648;PC=0.001;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1318+151delT;VC=Intron;Gene=ST6GAL2/NM_032528.2/1;CC=c.1318+151delT;VC=Intron;Gene=ST6GAL2/NM_001142352.1/0;CC=c.1318+151delT;VC=Intron;DM=ST6GAL2/Glyco_transf_29;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:GA,G:16:16:0:14:2,14:66,461:0.00,50.16:0.00,50.16:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.0,60.9:0,0:0,0:142,50:8,98:1,26:-,NM_032528.2(ST6GAL2) c.1318+151delT:-,NOT_FOUND:-,NOT_FOUND 2 107446396 rs877693 T C 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1534,C/0.8466;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1318+126A>G;VC=Intron;Gene=ST6GAL2/NM_032528.2/1;CC=c.1318+126A>G;VC=Intron;Gene=ST6GAL2/NM_001142352.1/0;CC=c.1318+126A>G;VC=Intron;DM=ST6GAL2/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:507:57.85:57.85:0.00:1.00:1.00:0.00:60:61.3:0:0:75:73:32:NM_032528.2(ST6GAL2) c.1318+126A>G,NM_032528.2(ST6GAL2) c.1318+126A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 107446430 rs935565 T C 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.09205,C/0.9079;PC=0.002;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1318+92A>G;VC=Intron;Gene=ST6GAL2/NM_032528.2/1;CC=c.1318+92A>G;VC=Intron;Gene=ST6GAL2/NM_001142352.1/0;CC=c.1318+92A>G;VC=Intron;DM=ST6GAL2/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:21:0:0:22:698:80.25:75.04:5.21:1.00:1.00:1.00:60:61.9:0:0:51:99:38:NM_032528.2(ST6GAL2) c.1318+92A>G,NM_032528.2(ST6GAL2) c.1318+92A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 107446697 . C . . NT END=107449020;NT GT ./. 2 107449123 . C . . NT END=107450504;NT GT ./. 2 107449321 rs7565174 A T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2025,T/0.7975;Gene=ST6GAL2/NM_001142351.1/0;CC=c.1042-199T>A;VC=Intron;Gene=ST6GAL2/NM_032528.2/1;CC=c.1042-199T>A;VC=Intron;Gene=ST6GAL2/NM_001142352.1/0;CC=c.1042-199T>A;VC=Intron;DM=ST6GAL2/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:0:0:0:8:226:26.32:0.00:26.32:1.00:0.00:1.00:60:72.5:0:0:66:84:41:NM_032528.2(ST6GAL2) c.1042-199T>A,NM_032528.2(ST6GAL2) c.1042-199T>A:0.8,0.8:NOT_FOUND,NOT_FOUND 2 107450603 . C . . NT END=107459490;NT GT ./. 2 107460434 . G . . NT END=108443469;NT GT ./. 2 107460474 rs12473361 T G 185 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.7436,G/0.2564;Gene=ST6GAL2/NM_001142351.1/0;CC=c.-41A>C;VC=5UTR;Gene=ST6GAL2/NM_032528.2/1;CC=c.-41A>C;VC=5UTR;Gene=ST6GAL2/NM_001142352.1/0;CC=c.-41A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:G,T:54:26:0:0:53,1:1619,16:185.00,0.00:64.27,0.00:120.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,114.0:0,0:0,0:117,40:32,111:17,0:NM_032528.2(ST6GAL2) c.-41A>C,NM_032528.2(ST6GAL2) c.-41A>C:0.29,0.29:0.369983,0.369983 2 107744671 rs112884931 TACACAC T 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TACACAC/0.02516,T/0.9748;NP=152;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:4:4:128:14.71:7.65:7.05:1.00:1.00:1.00:60:18.2:0:0:71:76:10:chr2 g.107744672_107744677delACACAC (intergenic),chr2 g.107744672_107744677delACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 107910054 rs72297500 AAC A 8 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AAC/0.9147,A/0.08526;NP=1;Gene=MIR548AU/NR_049853.1/0;VC=NonCoding;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:AAC,C,I,A:9:8:1:3:4,1,1,3:134,19,33,83:0.00,1.23,2.62,7.59:0.00,-0.13,1.28,4.51:0.00,1.36,1.33,3.09:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.92:60,60,60,60:12.5,115.0,21.0,23.3:0,1,0,0:0,0,0,0:67,80,61,50:82,71,90,96:6,0,0,3:-,chr2 g.107910055_107910056delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 107910106 rs549016816 CA C 33 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;Gene=MIR548AU/NR_049853.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:8:0:9:9:287:32.99:16.04:16.95:1.00:1.00:1.00:60:38.8:0:0:101:46:15:chr2 g.107910107delA (intergenic),chr2 g.107910107delA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 108228839 rs138064588 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.985,C/0.01498 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:C,T:11:10:0:0:5,6:148,190:13.89,0.00:5.28,0.00:8.61,0.00:0.93,0.00:0.99,0.00:0.93,0.00:60,60:49.0,42.5:0,0:0,0:80,56:71,61:14,35:chr2 g.108228838T>C (intergenic),-:0.02,-:NOT_FOUND,- 2 108228847 rs62158810 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9251,T/0.07488 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:11:9:0:0:5,6:158,197:0.00,19.27:0.00,8.30:0.00,10.97:0.00,0.98:0.00,1.00:0.00,0.98:60,60:36.8,42.5:0,0:0,0:88,64:63,53:21,35:-,chr2 g.108228846C>T (intergenic):-,0.06:-,NOT_FOUND 2 108353514 rs375265365 G GGT 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9792,T/0.02077;DB;DBA=NA;PAF=NA;NP=2;NP=9;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:G,GGT,D:4:4:2:1:1,2,1:34,63,32:0.00,6.35,2.95:0.00,3.18,1.48:0.00,3.18,1.48:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.51,0.00:47,60,60:33.0,17.5,0.0:0,0,0:0,0,0:56,50,65:32,82,86:0,6,0:-,chr2 g.108353514_108353515insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 108443325 rs1619178 T C 287 nt VT=SNV;PN=G;NN=T;SST=Single;DP=152;DB;DBA=NA;PAF=T/0.3718,C/0.6282;PC=0.074 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:152:144:0:0:85,67:2914,1945:286.75,0.00:257.66,0.00:29.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.4,10.6:0,0:0,0:51,50:100,99:31,27:NM_182588.2(RGPD4) c.-82-u63T>C,-:0.61,-:NOT_FOUND,- 2 108443328 rs3113782 A T 255 nt VT=SNV;PN=G;NN=C;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.4399,T/0.5601;PC=0.683 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:153:145:0:0:67,1,85:2004,10,2599:0.00,-0.13,255.11:0.00,-0.10,228.74:0.00,-0.03,26.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,60:10.6,42.0,68.9:0,0,0:0,0,0:53,118,52:95,33,99:30,0,31:-,NM_182588.2(RGPD4) c.-82-u60A>T:-,0.55:-,NOT_FOUND 2 108443511 rs7576738 C G 682 lc VT=SNV;PN=C;NN=G;SST=Single;DP=405;DB;DBA=NA;PAF=C/0.3734,A/.,G/0.6266,T/.;PC=0.993;Gene=RGPD4/NM_182588.2/1;CC=c.42C>G;ProtCh=p.S14=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:405:276:0:0:1,177,225,2:33,5510,6944,25:0.96,0.00,681.52,-0.18:1.04,0.00,291.09,-0.18:-0.08,0.00,390.43,-0.01:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:57,60,60,59:79.0,4.8,79.4,46.0:0,0,0,0:0,0,0,0:133,91,83,123:18,56,61,27:0,30,31,9:-,NM_182588.2(RGPD4) c.42C>G (p.(=)):-,0.55:-,NOT_FOUND 2 108443542 . G . . NT END=108453057;NT GT ./. 2 108443567 rs62159106 G A 457 nt VT=SNV;PN=C;NN=G;SST=Single;DP=273;DB;DBA=NA;PAF=G/0.4399,A/0.5601;PC=0.035;Gene=RGPD4/NM_182588.2/1;CC=c.72+26G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:273:134:0:0:140,1,131,1:4716,5,4177,11:456.87,-0.22,0.00,-0.17:139.58,-0.07,0.00,-0.07:317.28,-0.15,0.00,-0.10:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,47:118.2,19.0,8.1,190.0:0,0,0,0:0,0,0,0:100,111,93,54:48,40,53,97:26,0,32,0:NM_182588.2(RGPD4) c.72+26G>A,-:0.55,-:0.671923,- 2 108443591 rs7603113 A C 321 nt VT=SNV;PN=G;NN=G;SST=Single;DP=218;DB;DBA=NA;PAF=A/0.3718,C/0.6282;PC=0.003;Gene=RGPD4/NM_182588.2/1;CC=c.72+50A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:218:83:0:1:107,110,1:3505,3338,12:0.00,320.67,-0.15:0.00,85.13,-0.05:0.00,235.54,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,25:10.2,132.5,137.0:0,0,0:0,0,0:100,115,23:51,33,128:29,21,0:-,NM_182588.2(RGPD4) c.72+50A>C:-,0.6:-,NOT_FOUND 2 108443598 rs7577032 G C 311 nt VT=SNV;PN=C;NN=A;SST=Single;DP=208;DB;DBA=NA;PAF=G/0.4441,C/0.5559;PC=0.041;Gene=RGPD4/NM_182588.2/1;CC=c.72+57G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:208:73:0:0:101,107:3258,3381:311.46,0.00:66.79,0.00:244.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:139.1,12.4:0,1:0,0:113,100:38,51:21,29:NM_182588.2(RGPD4) c.72+57G>C,-:0.53,-:NOT_FOUND,- 2 108443647 rs78477381 C G 120 nt VT=SNV;PN=C;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.2772,G/0.7228;NP=31;PC=0.002;Gene=RGPD4/NM_182588.2/1;CC=c.72+106C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:110:10:0:0:66,44:1830,1316:0.00,120.48:0.00,6.77:0.00,113.71:0.00,1.00:0.00,0.84:0.00,1.00:60,60:19.2,140.8:0,0:0,0:94,126:52,23:30,13:-,NM_182588.2(RGPD4) c.72+106C>G:-,NOT_FOUND:-,NOT_FOUND 2 108443688 . G C 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=71;Gene=RGPD4/NM_182588.2/1;CC=c.72+147G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:71:2:0:0:15,56:459,1722:37.18,0.00:-0.15,0.00:37.34,0.00:1.00,0.00:0.48,0.00:1.00,0.00:40,60:179.9,44.6:0,0:0,0:23,111:117,37:7,24:NM_182588.2(RGPD4) c.72+147G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 108443692 rs62159108 C T 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=2;Gene=RGPD4/NM_182588.2/1;CC=c.72+151C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:2:0:0:46,24:1154,676:0.00,59.61:0.00,-0.27:0.00,59.88:0.00,1.00:0.00,0.64:0.00,1.00:60,58:25.7,159.8:0,0:0,0:111,31:34,105:23,17:-,NM_182588.2(RGPD4) c.72+151C>T:-,NOT_FOUND:-,NOT_FOUND 2 108443782 rs62159110 C T 65 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=28;Gene=RGPD4/NM_182588.2/1;CC=c.72+241C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:3:0:0:14,20:341,649:0.00,64.57:0.00,-0.76:0.00,65.34:0.00,1.00:0.00,0.94:0.00,1.00:42,40:64.1,167.8:0,0:0,0:119,110:19,37:22,12:-,NM_182588.2(RGPD4) c.72+241C>T:-,NOT_FOUND:-,NOT_FOUND 2 108443787 rs369722701 C G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=118;Gene=RGPD4/NM_182588.2/1;CC=c.72+246C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,C,G,T:31:3:0:0:1,25,4,1:14,819,132,7:0.16,0.00,10.05,-0.22:0.51,0.00,1.46,-0.01:-0.35,0.00,8.59,-0.21:0.00,0.00,0.64,0.00:0.00,0.00,0.39,0.00:0.00,0.00,0.95,0.00:1,42,40,40:82.0,138.6,94.8,182.0:0,0,0,0:0,0,0,0:44,115,96,127:86,30,42,8:0,13,28,0:-,NM_182588.2(RGPD4) c.72+246C>G:-,NOT_FOUND:-,NOT_FOUND 2 108443788 rs542301792 G A 67 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=1;NP=8;PC=0.002;Gene=RGPD4/NM_182588.2/1;CC=c.72+247G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:31:3:0:0:20,1,10:657,5,300:66.93,-0.07,0.00:-0.90,-0.03,0.00:67.83,-0.04,0.00:1.00,0.00,0.00:0.96,0.00,0.00:1.00,0.00,0.00:40,24,42:167.8,119.0,67.2:0,0,0:0,0,0:116,115,116:31,-2,15:12,0,22:NM_182588.2(RGPD4) c.72+247G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108443794 rs62159111 G T 64 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=6;PC=0.011;Gene=RGPD4/NM_182588.2/1;CC=c.72+253G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:3:0:0:11,19:327,637:0.00,64.22:0.00,-0.87:0.00,65.09:0.00,1.00:0.00,0.95:0.00,1.00:42,40:71.9,169.5:0,0:0,0:121,122:8,25:22,12:-,NM_182588.2(RGPD4) c.72+253G>T:-,NOT_FOUND:-,NOT_FOUND 2 108443818 . C G 43 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;NP=2;PC=0.001;Gene=RGPD4/NM_182588.2/1;CC=c.72+277C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,G:17:2:0:0:5,12:167,416:0.00,42.85:0.00,-0.80:0.00,43.65:0.00,1.00:0.00,0.93:0.00,1.00:42,39:79.0,173.4:0,0:0,0:100,134:38,16:25,11:-,NM_182588.2(RGPD4) c.72+277C>G:-,NOT_FOUND:-,NOT_FOUND 2 108443842 rs372379258 G C 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=70;Gene=RGPD4/NM_182588.2/1;CC=c.72+301G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,G:9:2:0:0:3,6:93,202:8.24,0.00:3.00,0.00:5.24,0.00:0.96,0.00:0.63,0.00:0.96,0.00:40,42:92.0,114.7:0,0:0,0:99,145:27,5:4,3:NM_182588.2(RGPD4) c.72+301G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 108445072 . C G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;NP=14;PC=0.001;Gene=RGPD4/NM_182588.2/1;CC=c.72+1531C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,G:6:3:0:0:3,3:93,82:0.00,7.82:0.00,2.17:0.00,5.65:0.00,0.73:0.00,0.89:0.00,0.96:50,42:0.0,103.7:0,0:0,0:141,104:5,18:4,0:-,NM_182588.2(RGPD4) c.72+1531C>G:-,NOT_FOUND:-,NOT_FOUND 2 108445861 rs533797701 A C 6 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9854,C/0.01458;PC=0.036;Gene=RGPD4/NM_182588.2/1;CC=c.72+2320A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,C:4:4:0:0:2,2:62,66:0.00,6.35:0.00,6.35:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:54,39:37.0,139.0:0,0:0,0:52,4:84,145:44,0:-,NM_182588.2(RGPD4) c.72+2320A>C:-,NOT_FOUND:-,NOT_FOUND 2 108445863 rs548980788 C A 6 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4;PC=0.010;Gene=RGPD4/NM_182588.2/1;CC=c.72+2322C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,C:4:4:0:0:2,2:66,45:6.36,0.00:6.36,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:39,54:139.0,37.0:0,0:0,0:6,54:143,82:0,44:NM_182588.2(RGPD4) c.72+2322C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108445908 rs1659897 T G 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=47;PC=0.004;Gene=RGPD4/NM_182588.2/1;CC=c.72+2367T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:G,T:13:13:0:0:4,9:122,290:10.62,0.00:9.22,0.00:1.40,0.00:0.79,0.00:0.79,0.00:0.60,0.00:39,54:117.2,60.3:0,0:0,0:41,25:109,105:10,15:NM_182588.2(RGPD4) c.72+2367T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 108445912 rs74180293 T C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=41;PC=0.001;Gene=RGPD4/NM_182588.2/1;CC=c.72+2371T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:13:13:0:0:3,10:91,345:7.48,0.00:7.54,0.00:-0.06,0.00:0.58,0.00:0.58,0.00:0.49,0.00:39,54:132.3,54.3:0,0:0,0:55,24:95,105:1,12:NM_182588.2(RGPD4) c.72+2371T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 108446110 rs1659896 G C 263 nt VT=SNV;PN=C;NN=T;SST=Single;DP=178;DB;DBA=NA;PAF=G/0.4393,C/0.5607;PC=0.908;Gene=RGPD4/NM_182588.2/1;CC=c.72+2569G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:178:141:0:0:88,90:2748,2804:263.13,0.00:156.26,0.00:106.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,11.3:0,0:0,0:71,53:74,94:38,31:NM_182588.2(RGPD4) c.72+2569G>C,-:0.55,-:NOT_FOUND,- 2 108446611 rs1661384 G C 123 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.371,C/0.629;Gene=RGPD4/NM_182588.2/1;CC=c.72+3070G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:65:0:0:0:1,39,25:11,1228,756:0.01,122.79,0.00:0.00,0.00,0.00:0.01,122.79,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:49,60,60:84.0,53.8,19.5:0,0,0:0,0,0:12,107,123:138,44,28:0,23,19:NM_182588.2(RGPD4) c.72+3070G>C,-:0.62,-:NOT_FOUND,- 2 108446700 rs55829724 G A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.001;Gene=RGPD4/NM_182588.2/1;CC=c.72+3159G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:28:1:0:0:11,16,1:285,480,9:25.77,0.00,-0.02:-0.11,0.00,-0.01:25.88,0.00,-0.01:1.00,0.00,0.00:0.60,0.00,0.00:1.00,0.00,0.00:53,60,59:69.5,28.5,55.0:0,0,0:0,0,0:83,67,21:67,83,129:29,24,0:NM_182588.2(RGPD4) c.72+3159G>A,-:0.34,-:NOT_FOUND,- 2 108446799 rs578251833 TAA T 14 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TAA/0.3726,T/0.6274;DB;DBA=NA;PAF=TAA/0.3726,T/0.6274;NP=114;PC=0.161;Gene=RGPD4/NM_182588.2/1;CC=c.72+3273_72+3274delAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:TAA,T:9:0:0:7:4,5:129,208:0.00,13.72:0.00,0.00:0.00,13.72:0.00,0.93:0.00,0.00:0.00,0.93:60,60:65.2,95.8:0,2:0,0:129,100:20,50:3,7:-,NM_182588.2(RGPD4) c.72+3259_72+3260delAA:-,NOT_FOUND:-,NOT_FOUND 2 108446805 . A G 8 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;PC=0.146;Gene=RGPD4/NM_182588.2/1;CC=c.72+3264A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:11:0:0:0:7,4:231,96:0.00,8.36:0.00,0.00:0.00,8.36:0.00,0.82:0.00,0.00:0.00,0.82:60,54:50.1,97.2:3,4:0,0:124,101:26,49:13,3:-,NM_182588.2(RGPD4) c.72+3264A>G:-,NOT_FOUND:-,NOT_FOUND 2 108453126 . G . . NT END=108454712;NT GT ./. 2 108453186 rs200309236 C A 124 nt VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;NP=1476;Gene=RGPD4/NM_182588.2/1;CC=c.140+61C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:114:3:0:0:42,71,1:1368,2328,11:124.46,0.00,-0.16:-0.40,0.00,-0.01:124.85,0.00,-0.16:1.00,0.00,0.00:0.77,0.00,0.00:1.00,0.00,0.00:40,40,40:36.6,11.8,28.0:0,0,0:0,0,0:110,91,27:39,60,123:23,35,0:NM_182588.2(RGPD4) c.140+61C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108454825 . G . . NT END=108455267;NT GT ./. 2 108455303 rs2259939 G T 31 sb,lc VT=SNV;PN=T;NN=G;SST=Single;DP=166;DB;DBA=NA;PAF=G/0.3908,C/.,T/0.6092;NP=279;PC=1.000;Gene=RGPD4/NM_182588.2/1;CC=c.288G>T;ProtCh=p.L96=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:G,T:166:138:0:0:152,14:5140,448:0.00,30.64:0.00,28.66:0.00,1.99:0.00,1.00:0.00,1.00:0.00,0.99:60,23:4.8,34.9:0,0:0,0:75,19:70,124:30,16:-,NM_182588.2(RGPD4) c.288G>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 108455421 . G . . NT END=108459464;NT GT ./. 2 108459696 . G . . NT END=108460040;NT GT ./. 2 108460187 . G . . NT END=108464796;NT GT ./. 2 108464993 . G . . NT END=108471011;NT GT ./. 2 108471100 . G . . NT END=108473215;NT GT ./. 2 108473387 rs371792535 A G 24 sb,lc VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.872,G/0.128;NP=8;PC=0.421;Gene=RGPD4/NM_182588.2/1;CC=c.1238A>G;ProtCh=p.Q413R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:13:0:0:9,11:272,254:0.00,24.44:0.00,22.87:0.00,1.56:0.00,1.00:0.00,1.00:0.00,0.99:40,40:39.2,56.3:0,0:0,0:98,94:53,55:20,44:-,NM_182588.2(RGPD4) c.1238A>G (p.Gln413Arg):-,NOT_FOUND:-,NOT_FOUND 2 108473426 . G . . NT END=108475569;NT GT ./. 2 108475609 . C G 124 lc VT=SNV;PN=A;NN=T;SST=Single;DP=92;NP=2;PC=0.981;Gene=RGPD4/NM_182588.2/1;CC=c.1316C>G;ProtCh=p.T439S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:92:92:0:0:50,41,1:1633,1315,9:0.00,123.80,-0.15:0.00,123.80,-0.15:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:40,40,25:8.7,38.9,96.0:0,0,0:0,0,0:63,67,51:87,84,100:21,34,0:-,NM_182588.2(RGPD4) c.1316C>G (p.Thr439Ser):-,NOT_FOUND:-,NOT_FOUND 2 108475752 . G . . NT END=108475834;NT GT ./. 2 108475837 rs201811980 A G 430 lc VT=SNV;PN=T;NN=T;SST=Single;DP=302;DB;DBA=NA;PAF=A/0.9976,G/0.002396;NP=55;PC=0.995;Gene=RGPD4/NM_182588.2/1;CC=c.1461A>G;ProtCh=p.V487=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:302:208:0:0:156,144,2:4815,4518,17:0.00,430.11,-0.38:0.00,252.90,-0.19:0.00,177.21,-0.18:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,43,40:17.8,40.1,97.5:0,0,0:0,0,0:46,61,67:103,89,67:26,39,8:-,NM_182588.2(RGPD4) c.1461A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 108475958 rs142985549 A G 566 lc VT=SNV;PN=A;NN=G;SST=Single;DP=373;DB;DBA=NA;PAF=NA;PC=1.000;Gene=RGPD4/NM_182588.2/1;CC=c.1582A>G;ProtCh=p.R528G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:373:210:0:0:185,188:6086,5884:0.00,565.60:0.00,258.05:0.00,307.55:0.00,1.00:0.00,1.00:0.00,1.00:50,51:18.0,42.7:1,0:0,0:83,78:67,68:38,32:-,NM_182588.2(RGPD4) c.1582A>G (p.Arg528Gly):-,0.52:-,NOT_FOUND 2 108476011 . G . . NT END=108476177;NT GT ./. 2 108476302 . G . . NT END=108477221;NT GT ./. 2 108476528 rs538847670 T G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4667,G/0.5333;NP=93;PC=0.002;Gene=RGPD4/NM_182588.2/1;CC=c.1758+227T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:G,T:17:0:0:0:7,10:189,314:17.21,0.00:0.00,0.00:17.21,0.00:0.98,0.00:0.00,0.00:0.98,0.00:40,42:91.6,12.5:0,0:0,0:125,96:25,54:15,39:NM_182588.2(RGPD4) c.1758+227T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 108477384 . G . . NT END=108477649;NT GT ./. 2 108477788 . G . . NT END=108478049;NT GT ./. 2 108478030 . T C 321 nt VT=SNV;PN=A;NN=A;SST=Single;DP=280;PC=0.987;Gene=RGPD4/NM_182588.2/1;CC=c.2059-20T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:280:207:0:0:106,1,173:3509,13,5411:321.05,-0.21,0.00:201.21,-0.09,0.00:119.84,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,27,45:38.0,26.0,5.9:0,0,0:0,0,0:46,59,46:98,92,98:28,0,25:NM_182588.2(RGPD4) c.2059-20T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 108478197 . G . . NT END=108479137;NT GT ./. 2 108479318 . G . . NT END=108479404;NT GT ./. 2 108479432 rs200501106 G A 212 lc VT=SNV;PN=G;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=G/0.4545,A/0.5455;PC=1.000;Gene=RGPD4/NM_182588.2/1;CC=c.2413G>A;ProtCh=p.A805T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:176:84:0:0:75,101:2286,3255:212.17,0.00:75.06,0.00:137.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,44:62.1,7.4:0,0:0,0:79,84:67,63:22,27:NM_182588.2(RGPD4) c.2413G>A (p.Ala805Thr),-:0.44,-:NOT_FOUND,- 2 108479487 rs199689341 A T 178 lc VT=SNV;PN=A;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=NA;PC=1.000;Gene=RGPD4/NM_182588.2/1;CC=c.2468A>T;ProtCh=p.K823M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:125:45:0:0:66,1,58:2225,23,1874:0.00,0.53,177.78:0.00,0.71,40.68:0.00,-0.18,137.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,42,43:6.7,153.0,70.2:0,0,0:0,0,0:110,114,106:39,37,41:21,0,22:-,NM_182588.2(RGPD4) c.2468A>T (p.Lys823Met):-,NOT_FOUND:-,NOT_FOUND 2 108479489 . G . . NT END=108482645;NT GT ./. 2 108479622 . C CT 9 idl,rn VT=INS;SST=Single;DP=25;PC=0.001;Gene=RGPD4/NM_182588.2/1;CC=c.2469+152_2469+153insT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,T,CT,D:22:0:6:4:14,1,5,2:403,27,131,105:0.00,1.54,9.24,3.56:0.00,0.00,0.00,0.00:0.00,1.54,9.24,3.56:0.00,0.00,0.83,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.83,0.00:53,27,39,40:21.1,63.0,2.2,44.5:0,0,1,2:0,0,0,0:108,29,36,99:31,122,114,50:22,0,10,9:-,NM_182588.2(RGPD4) c.2469+134_2469+135insT:-,NOT_FOUND:-,NOT_FOUND 2 108482782 . G . . NT END=108486338;NT GT ./. 2 108482851 . G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=108;PC=0.002;Gene=RGPD4/NM_182588.2/1;CC=c.2605+70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:A,C,G:108:25:0:0:8,1,99:276,11,3135:19.09,-0.27,0.00:12.22,-0.06,0.00:6.87,-0.21,0.00:0.91,0.00,0.00:0.73,0.00,0.00:0.99,0.00,0.00:21,23,40:35.9,88.0,7.1:0,0,0:0,0,0:98,74,69:52,77,82:35,0,24:NM_182588.2(RGPD4) c.2605+70G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108486434 . G . . NT END=108487160;NT GT ./. 2 108486470 rs62150209 C T 75 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.376,T/0.624;NP=691;PC=0.194;Gene=RGPD4/NM_182588.2/1;CC=c.2700+37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:7:0:0:33,26:970,801:0.00,74.85:0.00,2.29:0.00,72.56:0.00,1.00:0.00,0.97:0.00,1.00:40,40:7.6,44.4:0,0:0,0:84,100:67,51:50,35:-,NM_182588.2(RGPD4) c.2700+37C>T:-,NOT_FOUND:-,NOT_FOUND 2 108487097 rs700863 G A 207 nt VT=SNV;PN=G;NN=T;SST=Single;DP=159;DB;DBA=NA;PAF=G/0.4373,A/0.5627;NP=2625;Gene=RGPD4/NM_182588.2/1;CC=c.2701-64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:159:143:0:0:69,89,1:2210,2692,9:206.90,0.00,-0.18:173.84,0.00,-0.15:33.05,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,40:38.0,10.4,18.0:0,0,0:0,0,0:39,45,45:111,106,106:32,35,0:NM_182588.2(RGPD4) c.2701-64G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108487330 rs148409227 A G 834 lc VT=SNV;PN=A;NN=T;SST=Single;DP=538;DB;DBA=NA;PAF=NA;PC=0.963;Gene=RGPD4/NM_182588.2/1;CC=c.2870A>G;ProtCh=p.N957S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:538:359:0:0:277,1,259,1:8888,12,8717,8:0.00,-0.20,834.07,-0.23:0.00,-0.14,468.50,-0.13:0.00,-0.07,365.57,-0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:51,40,51,41:10.0,181.0,39.8,67.0:0,0,0,0:0,0,0,0:84,16,85,73:66,134,64,76:32,0,33,0:-,NM_182588.2(RGPD4) c.2870A>G (p.Asn957Ser):-,0.53:-,NOT_FOUND 2 108487826 rs2556258 C T 255 lc VT=SNV;PN=C;NN=C;SST=Single;DP=528;DB;DBA=NA;PAF=C/0.6058,T/0.3942;PC=0.007;Gene=RGPD4/NM_182588.2/1;CC=c.3366C>T;ProtCh=p.P1122=;VC=Silent;DM=RGPD4/Ran_BP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:528:299:0:0:2,424,102:24,13193,3187:-0.60,0.00,255.18:-0.25,0.00,41.70:-0.35,0.00,213.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:54,60,50:26.0,6.9,75.5:0,0,0:0,0,0:64,78,105:86,72,43:56,35,18:-,NM_182588.2(RGPD4) c.3366C>T (p.(=)):-,0.23:-,NOT_FOUND 2 108487829 rs141407602 G C 256 lc VT=SNV;PN=T;NN=T;SST=Single;DP=533;DB;DBA=NA;PAF=NA;Gene=RGPD4/NM_182588.2/1;CC=c.3369G>C;ProtCh=p.L1123=;VC=Silent;DM=RGPD4/Ran_BP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:533:304:0:0:1,99,432,1:7,3199,14366,9:-0.37,256.34,0.00,-0.36:-0.19,36.66,0.00,-0.18:-0.18,219.68,0.00,-0.18:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,40,60,40:66.0,78.8,6.4,35.0:0,0,0,0:0,0,0,0:69,105,81,135:81,41,69,13:0,17,35,0:NM_182588.2(RGPD4) c.3369G>C (p.(=)),-:0.25,-:NOT_FOUND,- 2 108487966 rs832357 A G 72 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=458;DB;DBA=NA;PAF=NA;NP=159;PC=1.000;Gene=RGPD4/NM_182588.2/1;CC=c.3506A>G;ProtCh=p.Q1169R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C,G,T:458:274:0:0:413,1,43,1:13859,12,1127,11:0.00,-0.32,72.25,-0.33:0.00,-0.13,73.22,-0.17:0.00,-0.19,-0.97,-0.17:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,25,40,24:9.3,200.0,55.9,144.0:0,0,0,0:0,0,0,0:64,31,66,111:82,116,79,21:36,0,49,0:-,NM_182588.2(RGPD4) c.3506A>G (p.Gln1169Arg):-,NOT_FOUND:-,NOT_FOUND 2 108489385 . G . . NT END=108496423;NT GT ./. 2 108490030 . CAAAAAAAAAA C 9 idl,nt VT=DEL;SST=Single;DP=12;PC=0.002;Gene=RGPD4/NM_182588.2/1;CC=c.4924+663_4924+672delAAAAAAAAAA;VC=Intron;DM=RGPD4/Rab_bind;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CAAAAAAAAAA,I,C:8:12:2:7:3,2,3:98,66,211:0.00,5.76,8.75:0.00,5.76,8.75:0.00,0.00,0.00:0.00,0.00,0.59:0.00,0.00,0.59:0.00,0.00,0.00:60,60,70:0.0,66.5,20.7:0,0,4:0,0,0:131,66,16:19,84,134:0,52,16:-,NM_182588.2(RGPD4) c.4924+647_4924+656delAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 2 108490956 rs58111659 ATT A 34 sb;idl,nt VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=RGPD4/NM_182588.2/1;CC=c.4924+1582_4924+1583delTT;VC=Intron;DM=RGPD4/Rab_bind;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATT,I,A:57:20:2:19:40,2,15:1255,60,473:0.00,3.42,33.53:0.00,1.54,1.02:0.00,1.88,32.50:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:56,40,40:9.4,13.5,32.5:0,0,4:0,0,0:90,111,51:60,38,90:44,4,32:-,NM_182588.2(RGPD4) c.4924+1573_4924+1574delTT:-,NOT_FOUND:-,NOT_FOUND 2 108491025 rs13427545 C T 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.7065,T/0.2935;Gene=RGPD4/NM_182588.2/1;CC=c.4924+1641C>T;VC=Intron;DM=RGPD4/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:18:0:0:29,21:917,672:0.00,62.43:0.00,12.99:0.00,49.44:0.00,1.00:0.00,1.00:0.00,1.00:56,42:6.4,58.5:0,0:0,0:82,68:69,81:32,37:-,NM_182588.2(RGPD4) c.4924+1641C>T:-,0.3:-,NOT_FOUND 2 108491122 rs199966703 C T 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=73;Gene=RGPD4/NM_182588.2/1;CC=c.4924+1738C>T;VC=Intron;DM=RGPD4/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:17:0:0:21,13:663,443:0.00,40.70:0.00,19.50:0.00,21.20:0.00,1.00:0.00,1.00:0.00,1.00:41,40:5.9,85.0:0,0:0,0:88,106:39,44:32,22:-,NM_182588.2(RGPD4) c.4924+1738C>T:-,NOT_FOUND:-,NOT_FOUND 2 108491136 rs200903387 C T 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=76;Gene=RGPD4/NM_182588.2/1;CC=c.4924+1752C>T;VC=Intron;DM=RGPD4/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:15:0:0:21,15:695,468:0.00,43.34:0.00,16.66:0.00,26.68:0.00,1.00:0.00,1.00:0.00,1.00:41,40:4.5,78.9:0,0:0,0:97,112:49,38:37,37:-,NM_182588.2(RGPD4) c.4924+1752C>T:-,NOT_FOUND:-,NOT_FOUND 2 108492792 rs145679887 G A 384 nt VT=SNV;PN=C;NN=C;SST=Single;DP=262;DB;DBA=NA;PAF=NA;NP=295;PC=0.043;Gene=RGPD4/NM_182588.2/1;CC=c.4924+3408G>A;VC=Intron;DM=RGPD4/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:262:190:0:0:128,1,132,1:4016,13,4162,11:384.37,-0.14,0.00,-0.17:232.49,-0.14,0.00,-0.08:151.88,-0.01,0.00,-0.09:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:44,24,43,23:43.3,121.0,8.2,138.0:0,0,0,0:0,0,0,0:89,125,69,96:61,26,80,54:33,0,39,0:NM_182588.2(RGPD4) c.4924+3408G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108494604 rs832354 C T 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2458,T/0.7542;PC=0.136;Gene=RGPD4/NM_182588.2/1;CC=c.4925-1820C>T;VC=Intron;DM=RGPD4/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:8,8:262,276:0.00,26.60:0.00,26.60:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,52:2.2,44.4:0,0:0,0:43,52:106,98:24,26:-,NM_182588.2(RGPD4) c.4925-1820C>T:-,0.67:-,NOT_FOUND 2 108496215 rs369557923 G T 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.8143,T/0.1857;NP=21;PC=0.001;Gene=RGPD4/NM_182588.2/1;CC=c.4925-209G>T;VC=Intron;DM=RGPD4/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:39:39:0:0:21,18:654,538:0.00,50.68:0.00,50.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:40,40:9.8,44.2:0,0:0,0:47,55:103,95:35,31:-,NM_182588.2(RGPD4) c.4925-209G>T:-,NOT_FOUND:-,NOT_FOUND 2 108496435 rs832352 T A 466 lc VT=SNV;PN=A;NN=G;SST=Single;DP=286;DB;DBA=NA;PAF=T/0.4451,A/0.5549;PC=1.000;Gene=RGPD4/NM_182588.2/1;CC=c.4936T>A;ProtCh=p.W1646R;VC=Missense;DM=RGPD4/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:286:223:0:0:146,140:4826,4620:466.20,0.00:303.91,0.00:162.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,5.3:0,0:0,0:54,62:93,87:26,30:NM_182588.2(RGPD4) c.4936T>A (p.Trp1646Arg),-:0.52,-:NOT_FOUND,- 2 108496564 . G . . NT END=108499127;NT GT ./. 2 108496715 rs58305715 CT C 8 idl,rn VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.002;Gene=RGPD4/NM_182588.2/1;CC=c.5064+176delT;VC=Intron;DM=RGPD4/Rab_bind;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CT,T,I,C:53:0:7:7:41,3,4,5:1165,76,197,162:0.00,4.45,8.00,7.61:0.00,0.00,0.00,0.00:0.00,4.45,8.00,7.61:0.00,0.00,0.52,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.52,0.00:60,60,43,40:39.4,120.0,112.5,73.2:0,2,3,2:0,0,0,0:134,83,80,106:15,33,71,44:13,25,38,17:-,NM_182588.2(RGPD4) c.5064+153delT:-,NOT_FOUND:-,NOT_FOUND 2 108499330 . G . . NT END=108507176;NT GT ./. 2 108507030 rs143449441 G A 11 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=6;PC=0.011;Gene=RGPD4/NM_182588.2/1;CC=c.5267-147G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,G:11:10:0:5:5,6:120,129:11.07,0.00:9.97,0.00:1.11,0.00:0.93,0.00:0.99,0.00:0.64,0.00:59,48:95.4,106.2:3,5:0,0:40,30:103,107:27,16:NM_182588.2(RGPD4) c.5267-147G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108507031 . AACC A 7 nt VT=DEL;SST=Single;DP=13;PC=0.010;Gene=RGPD4/NM_182588.2/1;CC=c.5267-145_5267-143delACC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:AACC,A:13:12:0:6:10,3:289,84:0.00,6.79:0.00,6.90:0.00,-0.11:0.00,0.58:0.00,0.92:0.00,0.49:60,51:74.6,148.0:5,0:0,0:31,41:106,102:21,9:-,NM_182588.2(RGPD4) c.5267-145_5267-143delACC:-,NOT_FOUND:-,NOT_FOUND 2 108507032 rs4012302 ACC A 11 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.010;Gene=RGPD4/NM_182588.2/1;CC=c.5267-134_5267-133delCC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:ACC,C,A:9:9:0:11:4,1,4:118,11,147:0.00,0.46,10.93:0.00,-0.18,10.93:0.00,0.64,0.00:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.60:60,54,48:44.5,21.0,136.8:1,0,1:0,0,0:88,12,28:48,139,120:10,0,13:-,NM_182588.2(RGPD4) c.5267-144_5267-143delCC:-,NOT_FOUND:-,NOT_FOUND 2 108507054 . G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;PC=0.005;Gene=RGPD4/NM_182588.2/1;CC=c.5267-123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,C,G:28:24:0:0:6,1,21:117,17,637:8.37,0.46,0.00:8.84,0.54,0.00:-0.47,-0.07,0.00:0.91,0.00,0.00:0.99,0.00,0.00:0.69,0.00,0.00:59,60,60:117.2,17.0,44.1:0,0,0:0,0,0:77,11,14:65,140,137:18,0,9:NM_182588.2(RGPD4) c.5267-123G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108507074 . G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;Gene=RGPD4/NM_182588.2/1;CC=c.5267-103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:41:37:0:0:8,33:143,1049:9.40,0.00:9.91,0.00:-0.52,0.00:0.97,0.00:1.00,0.00:0.75,0.00:48,60:123.1,27.1:0,0:0,0:74,24:57,125:15,10:NM_182588.2(RGPD4) c.5267-103G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 108507188 . A . . NT END=108604611;NT GT ./. 2 108520248 rs2114634 G C 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2672,C/0.7328;NP=534;PC=0.692 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,G:7:7:0:0:4,3:140,75:13.85,0.00:13.85,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:40,58:46.0,91.0:0,0:0,0:51,38:99,112:9,17:chr2 g.108520247G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 108520454 rs199920243 C T 20 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=0.989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:31:21:0:0:24,7:822,239:0.00,20.05:0.00,18.32:0.00,1.73:0.00,0.95:0.00,0.98:0.00,0.98:49,40:5.1,65.3:0,0:0,0:54,17:97,133:37,15:-,chr2 g.108520453C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 108520467 rs201258953 A G 16 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,G:38:27:0:0:31,7:1015,206:0.00,16.06:0.00,14.16:0.00,1.90:0.00,0.94:0.00,0.98:0.00,0.95:49,40:6.9,65.3:0,0:0,0:58,30:92,120:47,15:-,chr2 g.108520466A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 108520610 rs201024552 C CT 30 rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=3;PC=0.017;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:35:23:12:3:21,12,2:588,335,66:0.00,29.73,3.64:0.00,7.81,1.78:0.00,21.92,1.86:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,45,50:18.1,19.1,82.0:0,0,1:0,0,0:70,67,78:81,74,73:31,29,19:-,chr2 g.108520610_108520611insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 108520824 rs372328148 A G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=103;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,G:15:1:0:0:12,3:395,102:0.00,8.37:0.00,-0.05:0.00,8.42:0.00,0.55:0.00,0.47:0.00,0.55:50,25:4.0,45.0:0,0:0,0:95,132:55,19:38,0:-,chr2 g.108520823A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 108531654 rs6746560 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2897,G/0.7103;PC=0.808 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,G:8:2:0:0:4,4:122,132:0.00,12.70:0.00,2.77:0.00,9.93:0.00,0.87:0.00,0.79:0.00,0.73:60,60:31.0,33.0:0,0:0,0:111,31:39,119:7,25:-,chr2 g.108531653A>G (intergenic):-,0.67:-,NOT_FOUND 2 108537335 rs2114633 A G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2897,G/0.7103;PC=0.105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,G:8:8:0:0:2,6:59,178:0.00,18.71:0.00,18.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:23.0,29.7:0,0:0,0:43,17:107,133:22,12:-,chr2 g.108537334A>G (intergenic):-,0.67:-,NOT_FOUND 2 108537591 rs74182805 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:29:0:0:15,36:404,1193:34.11,0.00:8.26,0.00:25.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,50:55.3,3.9:0,0:0,0:104,84:47,63:34,28:chr2 g.108537590G>A (intergenic),-:0.59,-:NOT_FOUND,- 2 108537623 rs1820558 G A 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.2909,A/0.7091;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:23:0:0:15,33:480,1069:42.21,0.00:11.13,0.00:31.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,50:50.2,4.5:0,0:0,0:40,81:111,54:27,38:chr2 g.108537622G>A (intergenic),-:0.65,-:NOT_FOUND,- 2 108604790 . G . . NT END=108608561;NT GT ./. 2 108608676 . G . . NT END=108609427;NT GT ./. 2 108609584 . G . . NT END=108614293;NT GT ./. 2 108614443 . G . . NT END=108618352;NT GT ./. 2 108618497 . G . . NT END=108622504;NT GT ./. 2 108622659 . G . . NT END=108624920;NT GT ./. 2 108622812 rs71381936 TTA T 50 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=TTA/0.07528,T/0.9247;DB;DBA=NA;PAF=TTA/0.07528,T/0.9247;DB;DBA=NA;PAF=TTA/0.07528,T/0.9247;NP=1644;PC=0.002;Gene=SLC5A7/NM_001305005.2/0;CC=c.895+159_895+160delTA;VC=Intron;Gene=SLC5A7/NM_001305006.2/0;CC=c.580+159_580+160delTA;VC=Intron;Gene=SLC5A7/NM_001305007.2/0;CC=c.154+159_154+160delTA;VC=Intron;Gene=SLC5A7/NM_021815.4/1;CC=c.895+159_895+160delTA;VC=Intron;DM=SLC5A7/SSF;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:TTA,T:19:0:0:17:3,16:95,458:0.00,49.82:0.00,0.00:0.00,49.82:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,20.2:0,0:0,0:145,112:2,38:5,22:-,NM_021815.2(SLC5A7) c.895+155_895+156delTA:-,0.93:-,NOT_FOUND 2 108622946 rs6759730 G A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1919,A/0.8081;PC=0.032;Gene=SLC5A7/NM_001305005.2/0;CC=c.895+288G>A;VC=Intron;Gene=SLC5A7/NM_001305006.2/0;CC=c.580+288G>A;VC=Intron;Gene=SLC5A7/NM_001305007.2/0;CC=c.154+288G>A;VC=Intron;Gene=SLC5A7/NM_021815.4/1;CC=c.895+288G>A;VC=Intron;DM=SLC5A7/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:137:16.03:0.00:16.03:1.00:0.00:1.00:60:38.4:0:0:129:22:20:NM_021815.2(SLC5A7) c.895+288G>A,NM_021815.2(SLC5A7) c.895+288G>A:0.81,0.81:NOT_FOUND,NOT_FOUND 2 108625139 . G . . NT END=108626687;NT GT ./. 2 108626468 rs6753886 G A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5615,A/0.4385;Gene=SLC5A7/NM_001305005.2/0;CC=c.1114-220G>A;VC=Intron;Gene=SLC5A7/NM_001305006.2/0;CC=c.799-220G>A;VC=Intron;Gene=SLC5A7/NM_001305007.2/0;CC=c.373-220G>A;VC=Intron;Gene=SLC5A7/NM_021815.4/1;CC=c.1114-220G>A;VC=Intron;DM=SLC5A7/SSF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G:12:11:0:0:5,7:164,238:15.25,0.00:15.60,0.00:-0.35,0.00:0.92,0.00:0.99,0.00:0.72,0.00:60,60:37.4,0.0:0,0:0,0:70,26:79,125:6,17:NM_021815.2(SLC5A7) c.1114-220G>A,-:0.43,-:NOT_FOUND,- 2 108627318 . C . . NT END=108863650;NT GT ./. 2 108863767 rs9308806 A C 75 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.1534,C/0.8466;PC=0.001;Gene=SULT1C3/NM_001008743.1/1;CC=c.117A>C;ProtCh=p.V39=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:52:37:0:0:28,24:859,790:0.00,74.88:0.00,39.07:0.00,35.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,38.1:0,0:0,0:59,85:76,64:28,27:-,NM_001008743.1(SULT1C3) c.117A>C (p.(=)):-,0.84:-,0.782254 2 108863823 . G . . NT END=108868820;NT GT ./. 2 108863898 rs10209928 C T 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6338,T/0.3662;Gene=SULT1C3/NM_001008743.1/1;CC=c.172+76C>T;VC=Intron;DM=SULT1C3/Sulfotransfer_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:2:0:0:9,11:290,355:0.00,34.79:0.00,3.17:0.00,31.62:0.00,1.00:0.00,0.83:0.00,1.00:60,60:14.2,40.9:0,0:0,0:120,67:31,83:11,34:-,NM_001008743.1(SULT1C3) c.172+76C>T:-,0.4:-,NOT_FOUND 2 108868603 rs530728327 TTAGA T 13 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TTAGA/0.5178,T/0.4822;DB;DBA=NA;PAF=TTAGA/0.5178,T/0.4822;NP=94;PC=0.216;Gene=SULT1C3/NM_001008743.1/1;CC=c.173-180_173-177delAGAT;VC=Intron;DM=SULT1C3/Sulfotransfer_1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:G,TTAGA,T:12:12:0:5:1,6,5:11,198,144:0.35,0.00,13.48:0.35,0.00,13.48:0.00,0.00,0.00:0.00,0.00,0.92:0.00,0.00,0.92:0.00,0.00,0.00:60,60,60:101.0,2.0,20.8:0,0,0:0,0,0:23,37,56:128,113,95:0,19,19:-,NM_001008743.1(SULT1C3) c.173-217_173-214delTAGA:-,NOT_FOUND:-,NOT_FOUND 2 108868950 . G . . NT END=108869800;NT GT ./. 2 108869899 . G . . NT END=108872027;NT GT ./. 2 108872155 . G . . NT END=108875189;NT GT ./. 2 108875093 rs2198463 T A 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6376,A/0.3624;PC=0.007;Gene=SULT1C3/NM_001008743.1/1;CC=c.527-97T>A;VC=Intron;DM=SULT1C3/Sulfotransfer_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:22:21:0:0:11,11:341,352:32.70,0.00:33.00,0.00:-0.30,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:40.1,3.9:0,0:0,0:88,75:61,75:39,24:NM_001008743.1(SULT1C3) c.527-97T>A,-:0.4,-:NOT_FOUND,- 2 108875198 rs2219078 G A 84 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.6502,A/0.3498;PC=1.000;Gene=SULT1C3/NM_001008743.1/1;CC=c.535G>A;ProtCh=p.G179R;VC=Missense;DM=SULT1C3/Sulfotransfer_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:35:0:0:28,23:862,664:84.33,0.00:52.77,0.00:31.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.8,8.6:0,0:0,0:54,55:96,94:18,26:NM_001008743.1(SULT1C3) c.535G>A (p.Gly179Arg),-:0.39,-:0.227203,- 2 108875244 rs6722745 T C 98 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.4916,C/0.5084;Gene=SULT1C3/NM_001008743.1/1;CC=c.581T>C;ProtCh=p.M194T;VC=Missense;DM=SULT1C3/Sulfotransfer_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:55:31:0:0:1,31,23:12,989,754:0.07,97.63,0.00:-0.08,45.61,0.00:0.14,52.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:162.0,64.2,7.9:0,0,0:0,0,0:30,99,76:121,52,71:0,20,21:NM_001008743.1(SULT1C3) c.581T>C (p.Met194Thr),-:0.53,-:0.392357,- 2 108875285 . G . . NT END=108881280;NT GT ./. 2 108875471 rs13385082 G T 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4085,T/0.5915;PC=0.366;Gene=SULT1C3/NM_001008743.1/1;CC=c.621+187G>T;VC=Intron;DM=SULT1C3/Sulfotransfer_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:G,T:6:0:0:0:1,5:33,169:0.00,18.11:0.00,0.00:0.00,18.11:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,40.2:0,0:0,0:115,101:36,50:0,18:-,NM_001008743.1(SULT1C3) c.621+187G>T:-,0.59:-,NOT_FOUND 2 108881462 . G . . NT END=108881694;NT GT ./. 2 108881808 . G . . NT END=108910123;NT GT ./. 2 108910275 . G . . NT END=108910678;NT GT ./. 2 108910811 . G . . NT END=108917251;NT GT ./. 2 108910917 rs150794821 A ATCTCTCCTTCCTCTTTTCTCTCTCCCTCCC 7 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5649,ATCTCTCCTTCCTCTTTTATCTCTCCCTCCC/.,ATCTCTCCTTCCTCTTTTCTCTCTCCCTCCC/0.4351;Gene=SULT1C2/NM_001056.3/0;CC=c.277+122_277+123insTTCTCTCTCCCTCCCTCTCTCCTTCCTCTT;VC=Intron;Gene=SULT1C2/NM_176825.2/1;CC=c.277+122_277+123insTTCTCTCTCCCTCCCTCTCTCCTTCCTCTT;VC=Intron;DM=SULT1C2/Sulfotransfer_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,C,ATCTCTCCTTCCTCTTTTCTCTCTCCCTCCC:38:1:3:0:33,2,3:952,56,99:0.00,3.24,6.85:0.00,1.51,0.00:0.00,1.72,6.85:0.00,0.00,0.38:0.00,0.00,0.39:0.00,0.00,0.86:60,60,60:15.6,57.5,11.0:0,1,0:0,0,0:106,99,61:41,31,88:22,48,0:-,NM_176825.2(SULT1C2) c.277+107_277+108insTCTCTCCTTCCTCTTTTCTCTCTCCCTCCC:-,NOT_FOUND:-,NOT_FOUND 2 108917392 . G . . NT END=108921029;NT GT ./. 2 108921157 . G . . NT END=108921627;NT GT ./. 2 108921723 . G . . NT END=108921870;NT GT ./. 2 108922052 . G . . NT END=108924807;NT GT ./. 2 108924921 . G . . NT END=108994793;NT GT ./. 2 108994963 . G . . NT END=108998217;NT GT ./. 2 108998344 . G . . NT END=108998840;NT GT ./. 2 108998798 rs41503048 TA T 9 rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=17;PC=0.025;Gene=SULT1C4/NM_006588.2/1;CC=c.296-33delA;VC=Intron;DM=SULT1C4/Sulfotransfer_1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:TA,I,T:50:39:3:4:43,3,4:1363,98,133:0.00,6.42,9.27:0.00,3.13,8.55:0.00,3.29,0.72:0.00,0.00,0.55:0.00,0.00,0.88:0.00,0.00,0.81:60,60,60:8.9,0.0,0.0:0,0,0:0,0,0:36,67,68:107,84,82:29,5,28:-,NM_006588.2(SULT1C4) c.296-42delA:-,NOT_FOUND:-,NOT_FOUND 2 108998939 . G . . NT END=108999548;NT GT ./. 2 108999483 rs555766211 CA C 25 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=30;PC=0.001;Gene=SULT1C4/NM_006588.2/1;CC=c.394-48delA;VC=Intron;DM=SULT1C4/Sulfotransfer_1;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,CA,I,C:38:37:7:13:1,22,6,9:11,665,229,390:0.03,0.00,15.83,24.88:-0.15,0.00,14.96,18.69:0.18,0.00,0.87,6.19:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.97:60,60,60,60:11.0,30.4,58.2,17.6:0,0,1,3:0,0,0,0:11,49,91,37:140,93,59,98:0,21,11,32:-,NM_006588.2(SULT1C4) c.394-65delA:-,NOT_FOUND:-,NOT_FOUND 2 108999676 . G . . NT END=108999871;NT GT ./. 2 108999967 . G . . NT END=109002647;NT GT ./. 2 109002829 . G . . NT END=109003775;NT GT ./. 2 109003889 . T . . NT END=109065730;NT GT ./. 2 109065737 . G . . NT END=109066088;NT GT ./. 2 109065775 rs532747944 C T 265 nt VT=SNV;PN=T;NN=C;SST=Single;DP=191;DB;DBA=NA;PAF=NA;Gene=GCC2/NM_181453.3/1;CC=c.6+39C>T;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:191:142:0:0:104,87:3417,2809:0.00,265.22:0.00,140.98:0.00,124.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,44.3:0,0:0,0:91,87:53,59:30,26:-,NM_181453.3(GCC2) c.6+39C>T:-,NOT_FOUND:-,NOT_FOUND 2 109065858 rs2460947 T C 105 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=NA;Gene=GCC2/NM_181453.3/1;CC=c.6+122T>C;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:102:37:0:0:40,62:1154,2022:104.78,0.00:20.01,0.00:84.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.5,13.0:0,0:0,0:106,111:44,39:29,22:NM_181453.3(GCC2) c.6+122T>C,-:0.71,-:NOT_FOUND,- 2 109065919 rs3820957 T C 92 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.5615,C/0.4385;Gene=GCC2/NM_181453.3/1;CC=c.7-170T>C;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:18:0:0:30,36:977,1046:92.24,0.00:23.97,0.00:68.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.3,13.8:0,0:0,0:86,88:64,58:32,42:NM_181453.3(GCC2) c.7-170T>C,-:0.49,-:NOT_FOUND,- 2 109066146 . G . . NT END=109067483;NT GT ./. 2 109066234 rs377365761 AT A 10 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=AT/0.728,A/0.272;NP=322;Gene=GCC2/NM_181453.3/1;CC=c.63+102delT;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:AT,I,A:31:7:1:4:26,1,4:698,27,134:0.00,1.33,10.21:0.00,0.78,-0.30:0.00,0.55,10.50:0.00,0.00,0.64:0.00,0.00,0.58:0.00,0.00,0.93:60,60,60:55.2,47.0,20.8:0,0,0:0,0,0:102,42,94:49,86,56:39,0,27:-,NM_181453.3(GCC2) c.63+90delT:-,NOT_FOUND:-,NOT_FOUND 2 109066288 rs2460945 A G 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.001797,G/0.9982,T/.;Gene=GCC2/NM_181453.3/1;CC=c.63+143A>G;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:0:0:0:20:641:73.59:0.00:73.59:1.00:0.00:1.00:60:71.2:0:0:84:66:20:NM_181453.3(GCC2) c.63+143A>G,NM_181453.3(GCC2) c.63+143A>G:1,1:NOT_FOUND,NOT_FOUND 2 109066344 rs2460944 G A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3119,A/0.6881;PC=0.990;Gene=GCC2/NM_181453.3/1;CC=c.63+199G>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:7,8:210,252:19.85,0.00:0.00,0.00:19.85,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:77.9,46.8:0,0:0,0:102,130:48,20:29,9:NM_181453.3(GCC2) c.63+199G>A,-:0.72,-:NOT_FOUND,- 2 109066424 rs2378113 G A 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5785,A/0.4215;Gene=GCC2/NM_181453.3/1;CC=c.63+279G>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:0:0:0:2,2:68,67:6.55,0.00:0.00,0.00:6.55,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:34.0,9.0:0,0:0,0:52,127:98,23:13,1:NM_181453.3(GCC2) c.63+279G>A,-:0.47,-:NOT_FOUND,- 2 109067261 rs2683799 T C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=GCC2/NM_181453.3/1;CC=c.64-223T>C;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:C,T:8:7:0:0:4,4:120,133:11.50,0.00:11.80,0.00:-0.30,0.00:0.87,0.00:0.99,0.00:0.67,0.00:60,60:135.2,7.0:0,0:0,0:29,79:121,71:14,21:NM_181453.3(GCC2) c.64-223T>C,-:0.85,-:NOT_FOUND,- 2 109067337 rs561736913 C T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.004;Gene=GCC2/NM_181453.3/1;CC=c.64-147C>T;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:C,T,I,D:13:12:1:1:5,6,1,1:170,194,34,34:0.00,18.90,2.59,2.59:0.00,19.17,2.63,2.63:0.00,-0.27,-0.03,-0.03:0.00,0.97,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.64,0.00,0.00:60,60,60,60:5.6,124.0,24.0,0.0:0,0,0,0:0,0,0,0:66,91,67,66:85,60,84,85:58,27,0,0:-,NM_181453.3(GCC2) c.64-147C>T:-,0.49:-,NOT_FOUND 2 109067359 rs13397470 G A 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5537,A/0.4463;PC=0.014;Gene=GCC2/NM_181453.3/1;CC=c.64-125G>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:7,9:200,279:18.56,0.00:18.56,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:115.4,5.8:0,0:0,0:79,44:72,106:42,43:NM_181453.3(GCC2) c.64-125G>A,-:0.47,-:NOT_FOUND,- 2 109067360 rs13410844 T A 21 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.5537,A/0.4463;PC=0.015;Gene=GCC2/NM_181453.3/1;CC=c.64-124T>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:16:0:0:7,9:221,269:20.68,0.00:20.68,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:115.4,5.8:0,0:0,0:80,45:71,105:42,43:NM_181453.3(GCC2) c.64-124T>A,-:0.47,-:NOT_FOUND,- 2 109067569 . G . . NT END=109068854;NT GT ./. 2 109067688 rs13411256 T G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5563,G/0.4437;PC=0.001;Gene=GCC2/NM_181453.3/1;CC=c.148+120T>G;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:G,T:6:0:0:0:3,3:104,98:10.03,0.00:0.00,0.00:10.03,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:34.7,0.0:0,0:0,0:83,109:65,41:55,14:NM_181453.3(GCC2) c.148+120T>G,-:0.5,-:NOT_FOUND,- 2 109068923 . G . . NT END=109085435;NT GT ./. 2 109069008 rs2683797 T C 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.3307,C/0.6693;Gene=GCC2/NM_181453.3/1;CC=c.216+86T>C;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:5:0:0:11,13:337,420:31.74,0.00:2.67,0.00:29.06,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:31.5,1.2:0,0:0,0:88,101:62,50:34,16:NM_181453.3(GCC2) c.216+86T>C,-:0.7,-:NOT_FOUND,- 2 109085373 rs10179602 A G 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5783,G/0.4217;PC=0.482;Gene=GCC2/NM_181453.3/1;CC=c.217-63A>G;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:12,9:393,305:0.00,28.57:0.00,28.93:0.00,-0.36:0.00,1.00:0.00,1.00:0.00,0.83:60,60:5.8,45.7:0,0:0,0:85,41:65,110:25,24:-,NM_181453.3(GCC2) c.217-63A>G:-,0.47:-,NOT_FOUND 2 109085541 . G . . NT END=109086106;NT GT ./. 2 109088573 . G . . NT END=109089282;NT GT ./. 2 109089356 . G . . NT END=109091990;NT GT ./. 2 109089404 rs2243888 C G 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.3307,G/0.6693;Gene=GCC2/NM_181453.3/1;CC=c.2860+49C>G;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:8:0:0:9,10:317,344:0.00,33.46:0.00,4.52:0.00,28.94:0.00,1.00:0.00,0.99:0.00,1.00:60,60:0.0,38.0:0,0:0,0:97,81:53,67:23,27:-,NM_181453.3(GCC2) c.2860+49C>G:-,0.7:-,0.577018 2 109092092 . G . . NT END=109092207;NT GT ./. 2 109092121 rs3213886 G A 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.5637,A/0.4363;Gene=GCC2/NM_181453.3/1;CC=c.2961+30G>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:28:0:0:25,17:830,518:82.55,0.00:47.98,0.00:34.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,1.3:0,0:0,0:91,86:60,61:22,36:NM_181453.3(GCC2) c.2961+30G>A,-:0.49,-:0.311195,- 2 109092162 . T TA 9 rn VT=INS;SST=Single;DP=43;NP=3;PC=0.002;Gene=GCC2/NM_181453.3/1;CC=c.2962-37dupA;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TA:43:31:4:0:39,4:1218,128:0.00,8.93:0.00,6.91:0.00,2.03:0.00,0.58:0.00,0.87:0.00,0.80:60,60:21.5,17.2:0,0:0,0:95,88:56,62:45,39:-,NM_181453.3(GCC2) c.2962-46_2962-45insA:-,NOT_FOUND:-,NOT_FOUND 2 109092307 . G . . NT END=109098152;NT GT ./. 2 109098020 rs75134550 G A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9615,A/0.03854;Gene=GCC2/NM_181453.3/1;CC=c.3061-133G>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,G:15:15:0:0:5,10:164,288:14.65,0.00:14.65,0.00:0.00,0.00:0.89,0.00:0.89,0.00:0.00,0.00:60,60:41.8,6.1:0,0:0,0:92,79:58,67:30,20:NM_181453.3(GCC2) c.3061-133G>A,-:0.05,-:NOT_FOUND,- 2 109098273 . G . . NT END=109098742;NT GT ./. 2 109098908 . G . . NT END=109099517;NT GT ./. 2 109098994 rs3213887 T C 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.5637,C/0.4363;Gene=GCC2/NM_181453.3/1;CC=c.3345+87T>C;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:1:0:0:11,9:325,276:31.72,0.00:-0.35,0.00:32.07,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:40.4,2.4:0,0:0,0:98,114:53,37:52,18:NM_181453.3(GCC2) c.3345+87T>C,-:0.49,-:NOT_FOUND,- 2 109099477 rs2577613 A G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3307,G/0.6693;PC=0.336;Gene=GCC2/NM_181453.3/1;CC=c.3346-41A>G;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:21:0:0:13,12:379,405:0.00,38.73:0.00,28.39:0.00,10.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.2,58.1:0,0:0,0:32,45:119,104:21,15:-,NM_181453.3(GCC2) c.3346-41A>G:-,0.7:-,0.582727 2 109099572 rs2718698 C G 193 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.002596,G/0.9974;PC=1.000;Gene=GCC2/NM_181453.3/1;CC=c.3400C>G;ProtCh=p.Q1134E;VC=Missense;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G,T:54:42:0:0:53,1:1678,9:192.54,0.14:114.99,0.14:77.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,20.0:0,0:0,0:70,39:79,112:28,0:NM_181453.3(GCC2) c.=,NM_181453.3(GCC2) c.=:1,1:0.990005,0.990005 2 109099623 . G . . NT END=109100604;NT GT ./. 2 109099865 rs1542025 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6879,A/0.3121;PC=0.002;Gene=GCC2/NM_181453.3/1;CC=c.3450+243G>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:5:0:0:0:3,2:98,66:9.77,0.00:0.00,0.00:9.77,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:50.0,0.0:0,0:0,0:140,119:11,31:2,24:NM_181453.3(GCC2) c.3450+243G>A,-:0.28,-:NOT_FOUND,- 2 109100768 . G . . NT END=109102091;NT GT ./. 2 109102193 . G . . NT END=109102286;NT GT ./. 2 109102365 . G . . NT END=109102966;NT GT ./. 2 109102491 rs12619704 C A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5637,A/0.4363;Gene=GCC2/NM_181453.3/1;CC=c.3792+127C>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,C:8:0:0:0:4,4:130,108:12.51,0.00:0.00,0.00:12.51,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:58.5,4.8:0,0:0,0:82,66:68,84:25,43:NM_181453.3(GCC2) c.3792+127C>A,-:0.49,-:NOT_FOUND,- 2 109102534 rs2577586 G A 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2676,A/0.7324;Gene=GCC2/NM_181453.3/1;CC=c.3792+170G>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:8:0:0:0:4,4:118,90:11.30,0.00:0.00,0.00:11.30,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:56.2,4.8:0,0:0,0:80,59:70,91:45,31:NM_181453.3(GCC2) c.3792+170G>A,-:0.76,-:NOT_FOUND,- 2 109103105 . G . . NT END=109104154;NT GT ./. 2 109103108 rs3754925 C T 104 nt VT=SNV;PN=G;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.5563,T/0.4437;PC=0.013;Gene=GCC2/NM_181453.3/1;CC=c.3930+4C>T;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:41:0:0:44,33:1451,1107:0.00,103.61:0.00,34.29:0.00,69.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,34.8:0,0:0,0:80,79:71,66:33,31:-,NM_181453.3(GCC2) c.3930+4C>T:-,0.49:-,0.329079 2 109104277 . G . . NT END=109106293;NT GT ./. 2 109104356 . A AT 10 rn VT=INS;SST=Single;DP=33;NP=1;PC=0.033;Gene=GCC2/NM_181453.3/1;CC=c.4052+103_4052+104insT;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AT,D:33:16:4:2:27,4,2:825,129,66:0.00,9.63,4.39:0.00,2.23,-0.23:0.00,7.40,4.62:0.00,0.62,0.00:0.00,0.79,0.00:0.00,0.94,0.00:60,60,60:27.7,0.0,0.0:0,0,0:0,0,0:132,80,78:19,69,72:14,31,32:-,NM_181453.3(GCC2) c.4052+80_4052+81insT:-,NOT_FOUND:-,NOT_FOUND 2 109104464 rs10184417 G C 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3303,C/0.6697;Gene=GCC2/NM_181453.3/1;CC=c.4052+188G>C;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,G:14:0:0:0:8,6:230,186:22.61,0.00:0.00,0.00:22.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.1,0.0:0,0:0,0:105,101:43,48:15,25:NM_181453.3(GCC2) c.4052+188G>C,-:0.7,-:NOT_FOUND,- 2 109106134 rs58901561 T TG 34 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5435,TG/0.4565;NP=131;Gene=GCC2/NM_181453.3/1;CC=c.4053-160_4053-159insG;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:T,TG:12:12:10:0:2,10:67,313:0.00,33.72:0.00,33.72:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,11.5:0,0:0,0:78,71:72,79:41,29:-,NM_181453.3(GCC2) c.4053-160_4053-159insG:-,0.5:-,NOT_FOUND 2 109106381 rs12104502 A G 139 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.5435,G/0.4565;PC=0.044;Gene=GCC2/NM_181453.3/1;CC=c.4140A>G;ProtCh=p.Q1380=;VC=Silent;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:57:0:0:34,42:1127,1415:0.00,138.83:0.00,93.37:0.00,45.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,38.0:0,0:0,0:77,70:71,80:45,24:-,NM_181453.3(GCC2) c.4140A>G (p.(=)):-,0.5:-,0.343303 2 109106471 . G . . NT END=109109028;NT GT ./. 2 109109247 . G . . NT END=109111746;NT GT ./. 2 109110026 rs6710336 T C 425 nt VT=SNV;PN=A;NN=T;SST=Single;DP=277;DB;DBA=NA;PAF=T/0.5435,C/0.4565;Gene=GCC2/NM_181453.3/1;CC=c.4447+780T>C;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:277:213:0:0:135,1,141:4433,10,4242:424.76,-0.20,0.00:252.52,-0.12,0.00:172.24,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.3,79.0,9.7:0,0,0:0,0,0:89,106,77:62,45,65:37,0,37:NM_181453.3(GCC2) c.4447+780T>C,-:0.5,-:NOT_FOUND,- 2 109111660 rs11123697 T G 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.5525,G/0.4475;PC=0.001;Gene=GCC2/NM_181453.3/1;CC=c.4448-87T>G;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:28:0:0:14,14:426,465:40.81,0.00:39.12,0.00:1.69,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:43.9,8.3:0,0:0,0:61,52:89,92:27,21:NM_181453.3(GCC2) c.4448-87T>G,-:0.49,-:NOT_FOUND,- 2 109111942 . G . . NT END=109113425;NT GT ./. 2 109113566 . G . . NT END=109116008;NT GT ./. 2 109116211 . G . . NT END=109124015;NT GT ./. 2 109123950 rs9973734 T A 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.5435,A/0.4565;Gene=GCC2/NM_181453.3/1;CC=c.4985-66T>A;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:49:41:0:0:21,1,27:664,13,816:62.14,0.09,0.00:54.67,-0.15,0.00:7.47,0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:70.1,36.0,27.3:0,0,0:0,0,0:29,10,29:122,140,101:19,0,26:NM_181453.3(GCC2) c.4985-66T>A,-:0.5,-:NOT_FOUND,- 2 109123988 rs528390908 C CT 79 idl,rn VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=677;NP=8;PC=0.557;Gene=GCC2/NM_181453.3/1;CC=c.4985-17_4985-16insT;VC=Intron;Gene=GCC2/NR_028063.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CT,D:67:56:28:2:1,34,3,27,2:7,1106,67,875,61:-0.16,0.00,3.58,78.80,3.55:-0.07,0.00,-0.20,55.79,-0.26:-0.09,0.00,3.79,23.01,3.82:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:76.0,24.4,112.0,59.3,18.0:0,0,0,1,0:0,0,0,0,0:107,46,49,48,54:8,100,101,103,96:0,23,49,27,6:-,NM_181453.3(GCC2) c.4985-28_4985-27insT:-,NOT_FOUND:-,NOT_FOUND 2 109124087 . G . . NT END=109151018;NT GT ./. 2 109151051 . G . . NT END=109204756;NT GT ./. 2 109151173 rs12104672 T G 50 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4936,G/0.5064;Gene=LIMS1/NM_001193483.2/0;CC=c.32+123T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:5:0:0:15,10:497,290:49.55,0.00:7.41,0.00:42.14,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:53.9,22.9:0,0:0,0:65,96:84,54:34,47:NM_001193483.2(LIMS1) c.32+123T>G,-:0.53,-:NOT_FOUND,- 2 109204726 rs11323095 GA G 67 idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=GA/0.1414,G/0.8586;NP=591;Gene=LIMS1/NM_001193483.2/0;CC=c.32+53687delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:40:39:2:23:16,2,22:488,62,715:0.00,4.19,67.41:0.00,1.99,59.55:0.00,2.20,7.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.4,0.0,13.2:0,0,1:0,0,0:52,39,42:98,110,100:30,8,31:-,NM_001193483.2(LIMS1) c.32+53677delA:-,NOT_FOUND:-,NOT_FOUND 2 109205085 . G . . NT END=109223616;NT GT ./. 2 109223712 . G . . NT END=109237701;NT GT ./. 2 109237918 . G . . NT END=109271267;NT GT ./. 2 109253553 rs200192244 ATATGTG A 6 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=108;Gene=LIMS1/NM_001193483.2/0;CC=c.33-22506_33-22501delATGTGT;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.-4-22506_-4-22501delATGTGT;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.-4-22506_-4-22501delATGTGT;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.9-22506_9-22501delATGTGT;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.107+15638_107+15643delATGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:ATATGTG,A:3:2:0:4:1,2:34,128:0.00,6.44:0.00,1.38:0.00,5.06:0.00,0.46:0.00,0.70:0.00,0.46:60,60:0.0,15.5:0,2:0,0:121,45:30,105:0,17:-,NM_001193482.1(LIMS1) c.9-22507_9-22502delTATGTG:-,NOT_FOUND:-,NOT_FOUND 2 109271004 rs200872933 G A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=440;Gene=LIMS1/NM_001193483.2/0;CC=c.33-5057G>A;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.-4-5057G>A;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.-4-5057G>A;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.9-5057G>A;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.108-5057G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:6:6:0:0:4,2:130,70:13.25,0.00:13.25,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:37,42:32.5,0.0:0,0:0,0:47,37:103,113:30,23:NM_001193485.2(LIMS1) c.-263-u264G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 109271713 . G . . NT END=109275595;NT GT ./. 2 109275618 . G . . NT END=109276060;NT GT ./. 2 109275895 . A T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;NP=1;Gene=LIMS1/NM_001193483.2/0;CC=c.33-166A>T;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.-4-166A>T;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.-4-166A>T;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.9-166A>T;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.108-166A>T;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.183-166A>T;VC=Intron;DM=LIMS1/LIM;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:A,T:47:44:0:0:43,4:1334,124:0.00,8.38:0.00,8.49:0.00,-0.12:0.00,0.56:0.00,0.93:0.00,0.30:41,25:20.7,31.0:0,0:0,0:63,30:88,121:38,17:-,NM_001193485.2(LIMS1) c.183-166A>T:-,NOT_FOUND:-,NOT_FOUND 2 109276099 rs74632558 G A 231 lc VT=SNV;PN=C;NN=C;SST=Single;DP=305;DB;DBA=NA;PAF=NA;NP=1643;PC=1.000;Gene=LIMS1/NM_001193483.2/0;CC=c.71G>A;ProtCh=p.R24H;VC=Missense;Gene=LIMS1/NM_004987.5/0;CC=c.35G>A;ProtCh=p.R12H;VC=Missense;Gene=LIMS1/NM_001193488.1/0;CC=c.35G>A;ProtCh=p.R12H;VC=Missense;Gene=LIMS1/NM_001193482.1/1;CC=c.47G>A;ProtCh=p.R16H;VC=Missense;Gene=LIMS1/NM_001193484.1/0;CC=c.146G>A;ProtCh=p.R49H;VC=Missense;Gene=LIMS1/NM_001193485.2/0;CC=c.221G>A;ProtCh=p.R74H;VC=Missense;DM=LIMS1/LIM;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:305:238:0:0:82,1,222:2688,21,7108:231.03,0.04,0.00:153.50,-0.15,0.00:77.53,0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,25,44:54.6,103.0,7.3:0,0,0:0,0,0:61,15,64:86,136,81:28,0,33:NM_001193485.2(LIMS1) c.221G>A (p.Arg74His),-:NOT_FOUND,-:0.245617,- 2 109276178 rs201135021 C T 256 lc VT=SNV;PN=G;NN=G;SST=Single;DP=300;DB;DBA=NA;PAF=NA;NP=1595;PC=0.749;Gene=LIMS1/NM_001193483.2/0;CC=c.150C>T;ProtCh=p.C50=;VC=Silent;Gene=LIMS1/NM_004987.5/0;CC=c.114C>T;ProtCh=p.C38=;VC=Silent;Gene=LIMS1/NM_001193488.1/0;CC=c.114C>T;ProtCh=p.C38=;VC=Silent;Gene=LIMS1/NM_001193482.1/1;CC=c.126C>T;ProtCh=p.C42=;VC=Silent;Gene=LIMS1/NM_001193484.1/0;CC=c.225C>T;ProtCh=p.C75=;VC=Silent;Gene=LIMS1/NM_001193485.2/0;CC=c.300C>T;ProtCh=p.C100=;VC=Silent;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:300:178:0:0:212,88:6677,2930:0.00,256.26:0.00,114.85:0.00,141.41:0.00,1.00:0.00,1.00:0.00,1.00:51,51:5.4,54.5:0,0:0,0:85,83:60,65:34,32:-,NM_001193485.2(LIMS1) c.300C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 109276221 . G . . NT END=109287236;NT GT ./. 2 109276381 rs11691089 T G 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=188;Gene=LIMS1/NM_001193483.2/0;CC=c.192+161T>G;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.156+161T>G;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.156+161T>G;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.168+161T>G;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.267+161T>G;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.342+161T>G;VC=Intron;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:37:1:0:0:13,24:426,740:38.38,0.00:-0.09,0.00:38.47,0.00:1.00,0.00:0.57,0.00:1.00,0.00:51,50:65.8,25.3:0,0:0,0:115,122:34,29:26,14:NM_001193485.2(LIMS1) c.342+161T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 109276407 rs201180187 A G 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=352;Gene=LIMS1/NM_001193483.2/0;CC=c.192+187A>G;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.156+187A>G;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.156+187A>G;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.168+187A>G;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.267+187A>G;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.342+187A>G;VC=Intron;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:0:0:0:22:709:81.39:0.00:81.39:1.00:0.00:1.00:43:57.9:0:0:125:25:18:NM_001193485.2(LIMS1) c.342+187A>G,NM_001193485.2(LIMS1) c.342+187A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 109278500 rs12619855 G A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5667,A/0.4333;Gene=LIMS1/NM_001193483.2/0;CC=c.192+2280G>A;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.156+2280G>A;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.156+2280G>A;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.168+2280G>A;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.267+2280G>A;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.342+2280G>A;VC=Intron;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:9:9:0:0:4,5:127,146:11.92,0.00:11.92,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:37.0,39.8:0,0:0,0:23,40:127,111:10,23:NM_001193485.2(LIMS1) c.342+2280G>A,-:0.48,-:NOT_FOUND,- 2 109278635 rs552632429 T G 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=380;Gene=LIMS1/NM_001193483.2/0;CC=c.192+2415T>G;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.156+2415T>G;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.156+2415T>G;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.168+2415T>G;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.267+2415T>G;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.342+2415T>G;VC=Intron;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:G,T:39:30:0:0:4,35:119,1059:8.22,0.00:8.85,0.00:-0.63,0.00:0.59,0.00:0.89,0.00:0.76,0.00:25,60:45.2,12.0:0,0:0,0:18,56:132,94:1,22:NM_001193485.2(LIMS1) c.342+2415T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 109278823 rs73952508 T C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1064;Gene=LIMS1/NM_001193483.2/0;CC=c.192+2603T>C;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.156+2603T>C;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.156+2603T>C;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.168+2603T>C;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.267+2603T>C;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.342+2603T>C;VC=Intron;DM=LIMS1/LIM;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:13:2:0:0:3,10:95,321:7.89,0.00:1.46,0.00:6.42,0.00:0.58,0.00:0.51,0.00:0.58,0.00:40,57:33.3,8.9:0,0:0,0:72,80:79,70:37,25:NM_001193485.2(LIMS1) c.342+2603T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 109287304 . G . . NT END=109288780;NT GT ./. 2 109288621 rs575149450 CA C 15 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CA/0.3912,C/0.6088;DB;DBA=NA;PAF=CA/0.3912,C/0.6088;NP=2;PC=0.862;Gene=LIMS1/NM_001193483.2/0;CC=c.260-137delA;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.224-137delA;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.224-137delA;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.236-137delA;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.335-137delA;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.410-137delA;VC=Intron;DM=LIMS1/LIM;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:CA,C:13:14:0:6:8,5:232,193:0.00,14.62:0.00,14.62:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:39.9,56.6:0,1:0,0:101,33:37,103:33,17:-,NM_001193485.2(LIMS1) c.410-159delA:-,NOT_FOUND:-,NOT_FOUND 2 109288902 . G . . NT END=109289335;NT GT ./. 2 109289486 . G . . NT END=109292333;NT GT ./. 2 109292280 rs7584953 T C 196 nt VT=SNV;PN=T;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.134,C/0.866;Gene=LIMS1/NM_001193483.2/0;CC=c.531-54T>C;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.495-54T>C;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.495-54T>C;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.507-54T>C;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.606-54T>C;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.681-54T>C;VC=Intron;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:C:54:49:0:0:54:1703:195.95:145.15:50.80:1.00:1.00:1.00:60:37.8:0:0:50:92:31:NM_001193485.2(LIMS1) c.681-54T>C,NM_001193485.2(LIMS1) c.681-54T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 109292485 . G . . NT END=109293061;NT GT ./. 2 109292979 rs62151380 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5667,C/0.4333;PC=0.053;Gene=LIMS1/NM_001193483.2/0;CC=c.682-83T>C;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.646-83T>C;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.646-83T>C;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.658-83T>C;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.757-83T>C;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.832-83T>C;VC=Intron;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:14:14:0:0:6,8:189,271:17.61,0.00:14.62,0.00:2.99,0.00:0.96,0.00:0.96,0.00:0.93,0.00:55,50:46.5,17.4:0,0:0,0:89,49:61,102:35,26:NM_001193485.2(LIMS1) c.832-83T>C,-:0.48,-:NOT_FOUND,- 2 109293130 rs2438733 A G 8 lc VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=LIMS1/NM_001193483.2/0;CC=c.750A>G;ProtCh=p.A250=;VC=Silent;Gene=LIMS1/NM_004987.5/0;CC=c.714A>G;ProtCh=p.A238=;VC=Silent;Gene=LIMS1/NM_001193488.1/0;CC=c.714A>G;ProtCh=p.A238=;VC=Silent;Gene=LIMS1/NM_001193482.1/1;CC=c.726A>G;ProtCh=p.A242=;VC=Silent;Gene=LIMS1/NM_001193484.1/0;CC=c.825A>G;ProtCh=p.A275=;VC=Silent;Gene=LIMS1/NM_001193485.2/0;CC=c.900A>G;ProtCh=p.A300=;VC=Silent;DM=LIMS1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G,T:16:9:0:0:12,3,1:397,94,10:0.00,7.57,0.08:0.00,2.50,-0.14:0.00,5.07,0.22:0.00,0.54,0.00:0.00,0.80,0.00:0.00,0.88,0.00:41,40,40:0.0,31.3,153.0:0,0,0:0,0,0:84,48,62:57,103,66:17,2,0:-,NM_001193485.2(LIMS1) c.900A>G (p.(=)):-,0.44:-,NOT_FOUND 2 109293155 . G . . NT END=109294434;NT GT ./. 2 109294484 . G . . NT END=109297150;NT GT ./. 2 109294588 rs145969561 A T 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.012;Gene=LIMS1/NM_001193483.2/0;CC=c.823+105A>T;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.787+105A>T;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.787+105A>T;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.799+105A>T;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.898+105A>T;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.973+105A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:18:1:0:0:10,8:324,259:0.00,24.35:0.00,2.72:0.00,21.62:0.00,0.99:0.00,0.63:0.00,1.00:54,55:1.9,36.5:0,0:0,0:117,74:33,76:27,40:-,NM_001193485.2(LIMS1) c.973+105A>T:-,0.54:-,NOT_FOUND 2 109296930 rs58889267 T C 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4435,C/0.5565;Gene=LIMS1/NM_001193483.2/0;CC=c.824-221T>C;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.788-221T>C;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.788-221T>C;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.800-221T>C;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.899-221T>C;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.974-221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:5:0:0:2,3:70,72:6.50,0.00:6.50,0.00:0.00,0.00:0.46,0.00:0.46,0.00:0.00,0.00:56,60:68.0,30.7:0,0:0,0:57,73:92,77:6,48:NM_001193485.2(LIMS1) c.974-221T>C,-:0.59,-:NOT_FOUND,- 2 109296984 rs61151045 C A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4922,A/0.5078;PC=0.001;Gene=LIMS1/NM_001193483.2/0;CC=c.824-167C>A;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.788-167C>A;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.788-167C>A;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.800-167C>A;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.899-167C>A;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.974-167C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,C:6:6:0:0:3,3:99,102:9.52,0.00:9.52,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:71.7,20.7:0,0:0,0:105,57:46,61:13,36:NM_001193485.2(LIMS1) c.974-167C>A,-:0.53,-:NOT_FOUND,- 2 109297227 . G . . NT END=109297424;NT GT ./. 2 109297884 rs6734945 T A 132 lc VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1342,A/0.8658;Gene=LIMS1/NM_001193483.2/0;CC=c.899+658T>A;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.863+658T>A;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.863+658T>A;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.875+658T>A;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.974+658T>A;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.1049+658T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:A,T:40:23:0:0:39,1:1155,12:132.16,0.00:71.23,0.00:60.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,12.0:0,0:0,0:68,52:82,80:41,0:NM_001193485.2(LIMS1) c.1049+658T>A,NM_001193485.2(LIMS1) c.1049+658T>A:0.85,0.85:NOT_FOUND,NOT_FOUND 2 109298117 . c . . NT END=109300340;NT GT ./. 2 109298378 rs1365922 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1344,A/0.8656;Gene=LIMS1/NM_001193483.2/0;CC=c.899+1152G>A;VC=Intron;Gene=LIMS1/NM_004987.5/0;CC=c.863+1152G>A;VC=Intron;Gene=LIMS1/NM_001193488.1/0;CC=c.863+1152G>A;VC=Intron;Gene=LIMS1/NM_001193482.1/1;CC=c.875+1152G>A;VC=Intron;Gene=LIMS1/NM_001193484.1/0;CC=c.974+1152G>A;VC=Intron;Gene=LIMS1/NM_001193485.2/0;CC=c.1049+1152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:137:16.07:0.00:16.07:1.00:0.00:1.00:60:100.0:0:0:59:75:15:NM_001193485.2(LIMS1) c.1049+1152G>A,NM_001193485.2(LIMS1) c.1049+1152G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 109300456 . G . . NT END=109336062;NT GT ./. 2 109336018 rs79379002 C T 681 nt VT=SNV;PN=C;NN=T;SST=Single;DP=402;DB;DBA=NA;PAF=C/0.9838,T/0.01617;PC=0.013;Gene=RANBP2/NM_006267.4/1;CC=c.-45C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:402:350:0:0:189,213:6107,7005:0.00,681.25:0.00,484.69:0.00,196.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,42.0:0,0:0,0:40,50:104,99:25,27:-,NM_006267.4(RANBP2) c.-45C>T:-,0.01:-,0.023879 2 109336135 . G . . NT END=109336550;NT GT ./. 2 109336630 . G . . NT END=109345587;NT GT ./. 2 109336681 rs115128188 T G 161 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=RANBP2/NM_006267.4/1;CC=c.72+547T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G,T:49:9:0:0:48,1:1405,12:161.41,0.00:28.52,0.00:132.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,25:50.1,53.0:0,0:0,0:117,31:26,120:22,0:NM_006267.4(RANBP2) c.72+547T>G,NM_006267.4(RANBP2) c.72+547T>G:0.26,0.26:NOT_FOUND,NOT_FOUND 2 109336749 rs2912856 G A,C 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.7392,A/0.2608 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:51:A,C:17:3:0:0:11,6:253,58:28.34,5.84:10.56,0.00:17.78,5.84:1.00,0.00:0.96,0.00:1.00,0.00:40,40:41.8,90.2:0,0:0,0:23,78:126,72:11,14:NM_006267.4(RANBP2) c.72+615G>A,NM_006267.4(RANBP2) c.72+615G>C:0.14,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 109345211 rs826533 G A 25 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7548,A/0.2452;PC=0.031;Gene=RANBP2/NM_006267.4/1;CC=c.73-377G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:219:25.19:23.20:1.99:1.00:1.00:1.00:60:40.0:0:0:58:93:18:NM_006267.4(RANBP2) c.73-377G>A,NM_006267.4(RANBP2) c.73-377G>A:0.21,0.21:NOT_FOUND,NOT_FOUND 2 109345484 rs826532 G A 415 nt VT=SNV;PN=A;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.7368,A/0.2632;Gene=RANBP2/NM_006267.4/1;CC=c.73-104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:119:115:0:0:118,1:3607,10:414.95,0.00:395.55,0.00:19.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,82.0:0,0:0,0:41,81:109,70:28,0:NM_006267.4(RANBP2) c.73-104G>A,NM_006267.4(RANBP2) c.73-104G>A:0.23,0.23:NOT_FOUND,NOT_FOUND 2 109345656 . G . . NT END=109347229;NT GT ./. 2 109345867 rs826531 C G 71 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.7428,G/0.2572;Gene=RANBP2/NM_006267.4/1;CC=c.140+212C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:G,T:21:1:0:0:20,1:616,13:70.64,0.57:1.63,0.00:69.01,0.57:1.00,0.00:0.97,0.00:1.00,0.00:57,40:43.6,48.0:0,0:0,0:125,147:24,4:18,0:NM_006267.4(RANBP2) c.140+212C>G,NM_006267.4(RANBP2) c.140+212C>G:0.22,0.22:NOT_FOUND,NOT_FOUND 2 109347342 . G . . NT END=109347777;NT GT ./. 2 109347931 . G . . NT END=109351987;NT GT ./. 2 109347947 rs826526 T G 680 nt VT=SNV;PN=A;NN=A;SST=Single;DP=179;DB;DBA=NA;PAF=T/0.617,G/0.383;Gene=RANBP2/NM_006267.4/1;CC=c.405+17T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:179:61:0:0:179:5950:680.21:172.28:507.93:1.00:1.00:1.00:60:39.7:0:0:90:59:31:NM_006267.4(RANBP2) c.405+17T>G,NM_006267.4(RANBP2) c.405+17T>G:0.32,0.32:0.391438,0.391438 2 109351914 rs826579 C G 626 nt VT=SNV;PN=G;NN=T;SST=Single;DP=179;DB;DBA=NA;PAF=C/0.7414,G/0.2586;Gene=RANBP2/NM_006267.4/1;CC=c.406-74C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:179:176:0:0:1,178:10,5437:0.00,626.29:0.00,573.60:0.00,52.68:0.00,1.00:0.00,1.00:0.00,1.00:40,52:173.0,40.2:0,0:0,0:40,44:76,106:0,30:NM_006267.4(RANBP2) c.406-74C>G,NM_006267.4(RANBP2) c.406-74C>G:0.22,0.22:NOT_FOUND,NOT_FOUND 2 109352219 . G . . NT END=109352559;NT GT ./. 2 109352503 rs826578 A G 593 nt VT=SNV;PN=G;NN=T;SST=Single;DP=168;DB;DBA=NA;PAF=A/0.617,G/0.383;Gene=RANBP2/NM_006267.4/1;CC=c.637-57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:168:136:0:0:1,1,166:26,13,5168:0.00,0.12,592.86:0.00,-0.00,421.51:0.00,0.13,171.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:108.0,44.0,64.2:0,0,0:0,0,0:120,5,62:31,146,88:0,0,29:NM_006267.4(RANBP2) c.637-57A>G,NM_006267.4(RANBP2) c.637-57A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 2 109352542 rs826577 G A 747 nt VT=SNV;PN=T;NN=T;SST=Single;DP=205;DB;DBA=NA;PAF=G/0.617,A/0.383;PC=0.005;Gene=RANBP2/NM_006267.4/1;CC=c.637-18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:205:165:0:0:205:6493:746.73:543.80:202.93:1.00:1.00:1.00:60:58.4:0:0:65:86:36:NM_006267.4(RANBP2) c.637-18G>A,NM_006267.4(RANBP2) c.637-18G>A:0.24,0.24:0.321523,0.321523 2 109352706 . G . . NT END=109356944;NT GT ./. 2 109352744 rs826576 C T 294 nt VT=SNV;PN=G;NN=A;SST=Single;DP=193;DB;DBA=NA;PAF=C/0.86,T/0.14;Gene=RANBP2/NM_006267.4/1;CC=c.782+39C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:193:63:0:0:95,98:3231,3056:0.00,294.09:0.00,54.96:0.00,239.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,36.0:0,0:0,0:105,103:45,47:26,25:-,NM_006267.4(RANBP2) c.782+39C>T:-,0.13:-,0.161541 2 109357138 . G . . NT END=109363166;NT GT ./. 2 109357252 rs5833298 T TTAAAA 220 sb,nt VT=INS;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.6186,TTAAAA/0.3814;NP=7;NP=7;PC=0.059;Gene=RANBP2/NM_006267.4/1;CC=c.975+116_975+117insAAAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,C,T,TTAAAA:81:1:71:0:1,1,8,71:10,12,256,1973:0.08,0.14,0.00,219.58:0.00,0.00,0.00,0.80:0.08,0.14,0.00,218.79:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.92:0.00,0.00,0.00,1.00:22,49,60,40:52.0,57.0,11.9,3.7:1,0,0,0:0,0,0,0:27,144,142,99:124,7,2,52:0,0,3,24:-,NM_006267.4(RANBP2) c.975+115_975+116insTAAAA:-,0.1:-,NOT_FOUND 2 109363025 rs826561 T C 128 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.7428,C/0.2572;NP=41;PC=0.574;Gene=RANBP2/NM_006267.4/1;CC=c.976-142T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:35:0:0:35:1113:127.91:127.91:0.00:1.00:1.00:0.00:40:40.0:0:0:48:103:19:NM_006267.4(RANBP2) c.976-142T>C,NM_006267.4(RANBP2) c.976-142T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 109363255 . G . . NT END=109365375;NT GT ./. 2 109365586 . G . . NT END=109367719;NT GT ./. 2 109365847 rs866115 A G 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7398,G/0.2602;PC=0.143;Gene=RANBP2/NM_006267.4/1;CC=c.1273+262A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:C,G:17:0:0:0:1,16:10,488:0.40,55.98:0.00,0.00:0.40,55.98:0.00,1.00:0.00,0.00:0.00,1.00:52,58:140.0,44.0:0,0:0,0:94,97:56,50:0,28:NM_006267.4(RANBP2) c.1273+262A>G,NM_006267.4(RANBP2) c.1273+262A>G:0.2,0.2:NOT_FOUND,NOT_FOUND 2 109367902 . G . . NT END=109367983;NT GT ./. 2 109367977 rs144029181 A G 475 nt VT=SNV;PN=T;NN=A;SST=Single;DP=362;DB;DBA=NA;PAF=A/0.8536,G/0.1464;PC=0.002;Gene=RANBP2/NM_006267.4/1;CC=c.1456-7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:362:218:0:0:204,158:6336,5076:0.00,475.29:0.00,245.37:0.00,229.92:0.00,1.00:0.00,1.00:0.00,1.00:52,51:9.1,40.6:0,0:0,0:79,79:71,69:36,28:-,NM_006267.4(RANBP2) c.1456-7A>G:-,0.11:-,NOT_FOUND 2 109368160 . G . . NT END=109368326;NT GT ./. 2 109368451 . G . . NT END=109369453;NT GT ./. 2 109368773 rs866114 T A 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7398,A/0.2602;Gene=RANBP2/NM_006267.4/1;CC=c.1755+323T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:285:32.79:0.00:32.79:1.00:0.00:1.00:51:51.2:0:0:64:87:26:NM_006267.4(RANBP2) c.1755+323T>A,NM_006267.4(RANBP2) c.1755+323T>A:0.22,0.22:NOT_FOUND,NOT_FOUND 2 109369093 rs826523 G A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=18;PC=0.024;Gene=RANBP2/NM_006267.4/1;CC=c.1756-361G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G:6:6:0:1:5,1:160,26:17.21,0.00:17.21,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:70.6,18.0:0,0:0,0:30,122:121,29:28,0:NM_006267.4(RANBP2) c.1756-361G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 109369126 rs826522 G A 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7428,A/0.2572;PC=0.006;Gene=RANBP2/NM_006267.4/1;CC=c.1756-328G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A,T:16:16:0:0:15,1:430,8:49.70,0.28:49.70,0.28:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,55:55.6,74.0:0,0:0,0:25,102:125,28:9,0:NM_006267.4(RANBP2) c.1756-328G>A,NM_006267.4(RANBP2) c.1756-328G>A:0.21,0.21:NOT_FOUND,NOT_FOUND 2 109369248 rs376345958 CA C 28 idl,rn VT=DEL;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=27;PC=0.007;Gene=RANBP2/NM_006267.4/1;CC=c.1756-192delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:CA,T,I,C:58:61:10:13:37,1,9,11:1113,8,309,405:0.00,-0.17,21.76,27.78:0.00,-0.17,21.76,27.78:0.00,0.00,0.00,0.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00:60,60,60,70:23.2,26.0,10.8,13.8:0,0,1,2:0,0,0,0:66,103,65,24:84,48,86,127:44,0,36,22:-,NM_006267.4(RANBP2) c.1756-205delA:-,NOT_FOUND:-,NOT_FOUND 2 109369616 . G . . NT END=109369881;NT GT ./. 2 109369720 rs826521 G T 1021 nt VT=SNV;PN=G;NN=T;SST=Single;DP=293;DB;DBA=NA;PAF=G/0.7428,T/0.2572;Gene=RANBP2/NM_006267.4/1;CC=c.1917+105G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:293:158:0:0:2,3,288:22,56,8910:0.18,0.00,1021.26:0.18,0.00,509.02:-0.00,0.00,512.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:56,53,60:59.5,158.7,37.3:0,0,0:0,0,0:113,9,72:38,141,77:19,8,40:NM_006267.4(RANBP2) c.1917+105G>T,NM_006267.4(RANBP2) c.1917+105G>T:0.22,0.22:NOT_FOUND,NOT_FOUND 2 109370020 . G . . NT END=109370280;NT GT ./. 2 109370428 . G . . NT END=109371360;NT GT ./. 2 109371230 rs3086018 G GTAT 242 nt VT=INS;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.636,GTAT/0.364;DB;DBA=NA;PAF=G/0.636,GTAT/0.364;NP=390;Gene=RANBP2/NM_006267.4/1;CC=c.2203-126_2203-124dupATT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GTAT:92:92:83:0:9,83:237,2159:0.00,242.05:0.00,242.05:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.7,5.7:3,0:0,0:135,49:8,102:14,22:-,NM_006267.4(RANBP2) c.2203-131_2203-130insTAT:-,0.27:-,NOT_FOUND 2 109371541 . G . . NT END=109371631;NT GT ./. 2 109371716 . G . . NT END=109374868;NT GT ./. 2 109371849 rs373599468 CT C 16 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=6;PC=0.006;Gene=RANBP2/NM_006267.4/1;CC=c.2466+149delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:CT,T,I,C:31:0:4:6:20,1,4,6:607,25,130,197:0.00,1.21,10.16,16.42:0.00,0.00,0.00,0.00:0.00,1.21,10.16,16.42:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.90:60,60,54,60:13.2,25.0,2.8,1.2:0,0,0,0:0,0,0,0:124,24,117,102:26,126,34,48:19,0,6,6:-,NM_006267.4(RANBP2) c.2466+135delT:-,NOT_FOUND:-,NOT_FOUND 2 109374752 rs145601802 C CA 81 idl,rn VT=INS;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=3;Gene=RANBP2/NM_006267.4/1;CC=c.2467-100_2467-99insA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:83:94:38:15:1,41,30,11:31,1347,1124,475:1.43,0.00,80.54,27.67:-0.19,0.00,80.63,27.70:1.63,0.00,-0.08,-0.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.61,0.00:60,60,60,60:31.0,19.3,35.3,41.0:0,0,8,4:0,0,0,0:0,65,30,31:151,86,115,118:0,39,22,27:-,NM_006267.4(RANBP2) c.2467-117_2467-116insA:-,NOT_FOUND:-,NOT_FOUND 2 109374952 rs826549 A G 1209 lc VT=SNV;PN=C;NN=G;SST=Single;DP=347;DB;DBA=NA;PAF=NA;PC=0.007;Gene=RANBP2/NM_006267.4/1;CC=c.2550A>G;ProtCh=p.S850=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:347:209:0:0:2,1,343,1:46,7,10519,10:0.00,0.01,1209.08,0.03:0.00,0.01,490.17,-0.00:0.00,-0.00,718.91,0.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,50:40.5,17.0,39.0,10.0:0,0,0,0:0,0,0,0:123,150,71,58:18,1,76,93:14,0,23,0:NM_006267.4(RANBP2) c.2550A>G (p.(=)),NM_006267.4(RANBP2) c.2550A>G (p.(=)):0.23,0.23:0.30829,0.30829 2 109375005 . G . . NT END=109378556;NT GT ./. 2 109375074 rs376288742 G A 527 nt VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.7554,A/0.2446;NP=1385;PC=0.002;Gene=RANBP2/NM_006267.4/1;CC=c.2602+70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:149:4:0:0:148,1:4571,10:526.80,0.07:15.20,0.00:511.60,0.07:1.00,0.00:1.00,0.00:1.00,0.00:40,4:45.9,108.0:0,0:0,0:99,112:51,39:30,0:NM_006267.4(RANBP2) c.2602+70G>A,NM_006267.4(RANBP2) c.2602+70G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 109376756 rs143115410 T C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9311,C/0.06889;PC=0.001;Gene=RANBP2/NM_006267.4/1;CC=c.2602+1752T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:12:0:0:0:5,7:144,201:13.26,0.00:0.00,0.00:13.26,0.00:0.92,0.00:0.00,0.00:0.92,0.00:56,55:55.4,15.1:0,0:0,0:118,97:33,54:12,49:NM_006267.4(RANBP2) c.2602+1752T>C,-:0.05,-:NOT_FOUND,- 2 109378652 . G . . NT END=109379692;NT GT ./. 2 109381438 rs61748149 A G 239 lc VT=SNV;PN=G;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=A/0.9311,G/0.06889;PC=0.990;Gene=RANBP2/NM_006267.4/1;CC=c.4443A>G;ProtCh=p.G1481=;VC=Silent;DM=RANBP2/zf-RanBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:149:93:0:0:74,1,74:2297,10,2482:0.00,-0.15,238.95:0.00,-0.04,122.22:0.00,-0.11,116.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.9,78.0,48.6:0,0,0:0,0,0:65,53,59:83,86,91:31,0,36:-,NM_006267.4(RANBP2) c.4443A>G (p.(=)):-,0.05:-,0.055137 2 109384845 . G . . NT END=109385715;NT GT ./. 2 109385128 rs826583 A G 65 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7378,G/0.2622;Gene=RANBP2/NM_006267.4/1;CC=c.7849+284A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:1:0:0:17:570:65.11:1.99:63.12:1.00:1.00:1.00:60:38.1:0:0:116:34:19:NM_006267.4(RANBP2) c.7849+284A>G,NM_006267.4(RANBP2) c.7849+284A>G:0.23,0.23:NOT_FOUND,NOT_FOUND 2 109385794 . G . . NT END=109388156;NT GT ./. 2 109386410 rs67550039 AT A 188 idl,rn VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=AT/0.613,A/0.387;DB;DBA=NA;PAF=AT/0.613,A/0.387;NP=324;Gene=RANBP2/NM_006267.4/1;CC=c.7849+1577delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:AT,A:61:26:0:56:7,54:187,1778:0.00,187.73:0.00,69.48:0.00,118.25:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.3,8.4:0,2:0,0:73,80:78,71:50,32:-,NM_006267.4(RANBP2) c.7849+1567delT:-,0.32:-,NOT_FOUND 2 109386618 rs826582 T C 86 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5865,C/0.4135;Gene=RANBP2/NM_006267.4/1;CC=c.7850-1539T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:5:0:0:23:751:86.05:11.80:74.25:1.00:1.00:1.00:49:39.3:0:0:105:44:17:NM_006267.4(RANBP2) c.7850-1539T>C,NM_006267.4(RANBP2) c.7850-1539T>C:0.33,0.33:NOT_FOUND,NOT_FOUND 2 109386721 rs826581 T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9287,G/0.07129;Gene=RANBP2/NM_006267.4/1;CC=c.7850-1436T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:G,T:6:0:0:0:3,3:73,102:6.91,0.00:0.00,0.00:6.91,0.00:0.73,0.00:0.00,0.00:0.73,0.00:40,51:54.7,14.3:0,0:0,0:76,70:74,81:43,25:NM_006267.4(RANBP2) c.7850-1436T>G,-:0.07,-:NOT_FOUND,- 2 109388328 . G . . NT END=109388944;NT GT ./. 2 109388846 rs700876 G A 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=RANBP2/NM_006267.4/1;CC=c.8021-99G>A;VC=Intron;DM=RANBP2/IR1-M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:21:0:0:22:687:79.16:74.15:5.01:1.00:1.00:1.00:60:49.5:0:0:57:92:47:NM_006267.4(RANBP2) c.8021-99G>A,NM_006267.4(RANBP2) c.8021-99G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 2 109389038 . G . . NT END=109389323;NT GT ./. 2 109389124 rs700875 A T 154 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.7548,T/0.2452;Gene=RANBP2/NM_006267.4/1;CC=c.8113+87A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T:44:17:0:0:44:1328:153.61:56.25:97.36:1.00:1.00:1.00:60:39.1:0:0:97:54:37:NM_006267.4(RANBP2) c.8113+87A>T,NM_006267.4(RANBP2) c.8113+87A>T:0.21,0.21:NOT_FOUND,NOT_FOUND 2 109389463 rs826580 G A 391 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.01278,A/0.9872;PC=1.000;Gene=RANBP2/NM_006267.4/1;CC=c.8253G>A;ProtCh=p.E2751=;VC=Silent;DM=RANBP2/IR1-M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:101:49:0:0:101:3424:390.53:123.06:267.47:1.00:1.00:1.00:60:40.9:0:0:61:84:30:NM_006267.4(RANBP2) c.=,NM_006267.4(RANBP2) c.=:0.99,0.99:0.984161,0.984161 2 109389503 . G . . NT END=109392163;NT GT ./. 2 109392393 . G . . NT END=109393585;NT GT ./. 2 109393522 rs58272304 TG T 94 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=TG/0.01058,T/0.9894;NP=3456;PC=0.001;Gene=RANBP2/NM_006267.4/1;CC=c.8498-60delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:25:0:26:26:820:94.39:86.65:7.74:1.00:1.00:1.00:60:7.8:0:0:68:82:31:NM_006267.4(RANBP2) c.8498-63delG,NM_006267.4(RANBP2) c.8498-63delG:0.99,0.99:NOT_FOUND,NOT_FOUND 2 109393688 . G . . NT END=109397724;NT GT ./. 2 109393854 rs17020526 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9259,A/0.07408;PC=0.006;Gene=RANBP2/NM_006267.4/1;CC=c.8599+167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:10:0:0:0:3,7:101,214:8.88,0.00:0.00,0.00:8.88,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:90.3,28.7:0,0:0,0:80,80:37,37:49,10:NM_006267.4(RANBP2) c.8599+167G>A,-:0.05,-:NOT_FOUND,- 2 109397886 . G . . NT END=109398583;NT GT ./. 2 109398858 . G . . NT END=109398983;NT GT ./. 2 109399319 . G . . NT END=109400051;NT GT ./. 2 109400358 . A . . NT END=109403278;NT GT ./. 2 109403101 rs826554 G C 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7428,C/0.2572 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:468:53.95:53.95:0.00:1.00:1.00:0.00:60:49.7:0:0:69:82:13:NM_144978.1(CCDC138) c.-60-u118G>C,NM_144978.1(CCDC138) c.-60-u118G>C:0.22,0.22:NOT_FOUND,NOT_FOUND 2 109403112 rs826553 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8393,C/0.1607 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,T:16:16:0:0:5,11:156,303:13.68,0.00:13.68,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:60,60:80.0,43.4:0,0:0,0:56,87:95,64:28,19:NM_144978.1(CCDC138) c.-60-u107T>C,-:0.14,-:NOT_FOUND,- 2 109403372 . G . . NT END=109404450;NT GT ./. 2 109404474 rs5833305 C CT 86 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=626;Gene=CCDC138/NM_001303105.1/0;CC=c.94-3dupT;VC=Intron;Gene=CCDC138/NM_001303106.1/1;CC=c.-850-3dupT;VC=Intron;Gene=CCDC138/NM_144978.2/0;CC=c.94-3dupT;VC=Intron;Gene=CCDC138/NR_130121.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,CT:27:20:25:0:3,24:103,816:0.00,85.50:0.00,34.49:0.00,51.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.0,7.4:0,1:0,0:86,61:50,88:12,24:-,NM_144978.1(CCDC138) c.94-14_94-13insT:-,NOT_FOUND:-,NOT_FOUND 2 109404546 . G . . NT END=109405270;NT GT ./. 2 109405423 . G . . NT END=109408098;NT GT ./. 2 109408159 rs35794776 G T 81 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.9279,T/0.07208;PC=1.000;Gene=CCDC138/NM_001303105.1/0;CC=c.295G>T;ProtCh=p.D99Y;VC=Missense;Gene=CCDC138/NM_001303106.1/1;CC=c.-654G>T;VC=5UTR;Gene=CCDC138/NM_144978.2/0;CC=c.295G>T;ProtCh=p.D99Y;VC=Missense;Gene=CCDC138/NR_130121.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:55:37:0:0:28,27:900,843:0.00,80.59:0.00,27.72:0.00,52.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.7,48.1:0,0:0,0:57,101:92,49:45,32:-,NM_144978.1(CCDC138) c.295G>T (p.Asp99Tyr):-,0.05:-,0.056748 2 109408208 rs6740879 G A 150 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.74,A/0.26;Gene=CCDC138/NM_001303105.1/0;CC=c.344G>A;ProtCh=p.R115K;VC=Missense;Gene=CCDC138/NM_001303106.1/1;CC=c.-605G>A;VC=5UTR;Gene=CCDC138/NM_144978.2/0;CC=c.344G>A;ProtCh=p.R115K;VC=Missense;Gene=CCDC138/NR_130121.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A,G:42:30:0:0:41,1:1321,12:149.83,0.00:73.68,0.00:76.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,31:47.5,239.0:0,0:0,0:71,55:72,70:25,0:NM_144978.1(CCDC138) c.344G>A (p.Arg115Lys),NM_144978.1(CCDC138) c.344G>A (p.Arg115Lys):0.22,0.22:0.267904,0.267904 2 109408259 . G . . NT END=109410958;NT GT ./. 2 109410849 rs1724196 C T 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9293,T/0.07069;Gene=CCDC138/NM_001303105.1/0;CC=c.395-147C>T;VC=Intron;Gene=CCDC138/NM_001303106.1/1;CC=c.-554-147C>T;VC=Intron;Gene=CCDC138/NM_144978.2/0;CC=c.395-147C>T;VC=Intron;Gene=CCDC138/NR_130121.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,T:20:20:0:0:6,14:158,463:0.00,47.68:0.00,47.68:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:24.2,53.6:0,0:0,0:38,37:96,113:26,23:-,NM_144978.1(CCDC138) c.395-147C>T:-,0.08:-,NOT_FOUND 2 109411178 . G . . NT END=109414846;NT GT ./. 2 109415043 . G . . NT END=109421307;NT GT ./. 2 109421334 rs147074070 TCTC T 30 idl VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=TCTC/0.9279,T/0.07208;NP=221;Gene=CCDC138/NM_001303105.1/0;CC=c.736-5_736-3delCCT;VC=Intron;Gene=CCDC138/NM_001303106.1/1;CC=c.-213-5_-213-3delCCT;VC=Intron;Gene=CCDC138/NM_144978.2/0;CC=c.736-5_736-3delCCT;VC=Intron;Gene=CCDC138/NR_130121.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCTC,T:39:28:0:14:28,11:908,370:0.00,29.57:0.00,12.44:0.00,17.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,24.8:0,1:0,0:76,64:69,75:50,30:-,NM_144978.1(CCDC138) c.736-10_736-8delCTC:-,0.05:-,0.06271 2 109421465 . G . . NT END=109429049;NT GT ./. 2 109421621 rs4536612 G A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1847,A/0.8153;Gene=CCDC138/NM_001303105.1/0;CC=c.855+157G>A;VC=Intron;Gene=CCDC138/NM_001303106.1/1;CC=c.-94+157G>A;VC=Intron;Gene=CCDC138/NM_144978.2/0;CC=c.855+157G>A;VC=Intron;Gene=CCDC138/NR_130121.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:9:0:0:0:3,6:96,202:8.54,0.00:0.00,0.00:8.54,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:32.0,17.2:0,0:0,0:91,134:60,16:3,7:NM_144978.1(CCDC138) c.855+157G>A,-:0.83,-:NOT_FOUND,- 2 109429165 . G . . NT END=109429238;NT GT ./. 2 109429384 . G . . NT END=109432359;NT GT ./. 2 109432562 . G . . NT END=109455603;NT GT ./. 2 109455758 . G . . NT END=109463156;NT GT ./. 2 109463387 . G . . NT END=109473212;NT GT ./. 2 109473427 . G . . NT END=109489869;NT GT ./. 2 109490046 . G . . NT END=109492506;NT GT ./. 2 109490104 rs6737810 A G 71 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.003794,G/0.9962;NP=2757;Gene=CCDC138/NM_001303105.1/0;CC=c.1694-2440A>G;VC=Intron;Gene=CCDC138/NM_001303106.1/1;CC=c.884+59A>G;VC=Intron;Gene=CCDC138/NM_144978.2/0;CC=c.1832+59A>G;VC=Intron;Gene=CCDC138/NR_130121.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:3:0:0:20:611:70.58:8.00:62.58:1.00:1.00:1.00:60:43.3:0:0:98:52:32:NM_144978.1(CCDC138) c.1832+59A>G,NM_144978.1(CCDC138) c.1832+59A>G:1,1:NOT_FOUND,NOT_FOUND 2 109492710 . A . . NT END=109513362;NT GT ./. 2 109492907 rs14402 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.04193,G/0.9581;Gene=CCDC138/NM_001303105.1/0;CC=c.*323A>G;VC=3UTR;Gene=CCDC138/NM_001303106.1/1;CC=c.*198A>G;VC=3UTR;Gene=CCDC138/NM_144978.2/0;CC=c.*198A>G;VC=3UTR;Gene=CCDC138/NR_130121.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,G:5:0:0:0:2,3:39,102:0.00,10.21:0.00,0.00:0.00,10.21:0.00,0.78:0.00,0.00:0.00,0.78:60,60:69.5,72.3:0,0:0,0:118,91:32,59:9,25:-,chr2 g.109492906A>G (intergenic):-,0.96:-,NOT_FOUND 2 109513321 rs7607563 C A 146 nt VT=SNV;PN=G;NN=T;SST=Single;DP=86;DB;DBA=in-clinvar;PAF=C/0.117,A/0.883;Gene=EDAR/NM_022336.3/1;CC=c.*42G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:86:81:0:0:46,40:1500,1375:146.10,0.00:110.29,0.00:35.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,6.5:0,0:0,0:42,53:105,97:20,30:NM_022336.3(EDAR) c.*42G>T,-:0.9,-:0.858966,- 2 109513686 . C . . NT END=109522763;NT GT ./. 2 109522747 rs3833574 CT C 76 rn VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=CT/0.7556,C/0.2444;NP=581;Gene=EDAR/NM_022336.3/1;CC=c.1024+16delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:56:44:0:26:30,26:960,805:0.00,76.11:0.00,52.74:0.00,23.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,6.0:0,0:0,0:71,54:78,95:43,27:-,NM_022336.3(EDAR) c.1024+16delA:-,NOT_FOUND:-,NOT_FOUND 2 109522825 . C . . NT END=109524315;NT GT ./. 2 109524476 . C . . NT END=109526915;NT GT ./. 2 109524741 rs260635 T G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.07029,G/0.9297;Gene=EDAR/NM_022336.3/1;CC=c.804-266A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:G,T:12:0:0:0:5,7:136,224:12.41,0.00:0.00,0.00:12.41,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:54.6,10.3:0,0:0,0:113,75:38,74:17,14:NM_022336.3(EDAR) c.804-266A>C,-:0.94,-:NOT_FOUND,- 2 109526969 rs260632 G A 69 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=G/0.07867,A/0.9213;PC=0.001;Gene=EDAR/NM_022336.3/1;CC=c.750C>T;ProtCh=p.S250=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:27:0:0:21,19:709,606:68.88,0.00:28.74,0.00:40.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,1.6:0,0:0,0:71,93:69,50:25,31:NM_022336.3(EDAR) c.750C>T (p.(=)),-:0.93,-:0.896279,- 2 109526989 . C . . NT END=109527231;NT GT ./. 2 109527307 . C . . NT END=109527402;NT GT ./. 2 109527373 rs260630 A G 138 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.07248,G/0.9275;Gene=EDAR/NM_022336.3/1;CC=c.655+30T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:70:0:0:53,46:1750,1456:0.00,137.84:0.00,79.34:0.00,58.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,46.6:0,0:0,0:78,94:69,56:39,27:-,NM_022336.3(EDAR) c.655+30T>C:-,0.93:-,0.905582 2 109527529 . C . . NT END=109529133;NT GT ./. 2 109529221 . C . . NT END=109539823;NT GT ./. 2 109539653 rs260643 A G 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3401,G/0.6599;Gene=EDAR/NM_022336.3/1;CC=c.442+171T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,G:11:11:0:0:2,9:63,280:0.00,30.03:0.00,28.33:0.00,1.69:0.00,1.00:0.00,1.00:0.00,0.88:60,60:3.5,38.0:0,0:0,0:15,50:135,101:15,23:-,NM_022336.3(EDAR) c.442+171T>C:-,0.62:-,NOT_FOUND 2 109539910 . C . . NT END=109545653;NT GT ./. 2 109545836 . C . . NT END=109546575;NT GT ./. 2 109546699 . C . . NT END=109547419;NT GT ./. 2 109547471 . C . . NT END=109745996;NT GT ./. 2 109714192 rs71383824 GGTGTGT G 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=68;PC=0.225;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G:2:4:0:4:2:129:6.55:4.86:1.69:0.51:0.51:0.89:60:86.0:2:0:43:107:26:chr2 g.109714193_109714198delGTGTGT (intergenic),chr2 g.109714193_109714198delGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 109745782 rs200435574 TGGCCGGTCCCCGCCACGCA T 60 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=TGGCCGGTCCCCGCCACGCA/0.2292,T/0.7708;NP=252;Gene=SH3RF3-AS1/NR_029193.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:TGGCCGGTCCCCGCCACGCA,T:24:24:0:18:6,18:209,576:0.00,60.32:0.00,60.32:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:2.0,4.4:0,0:0,0:112,51:28,98:2,13:-,NR_029193.1(SH3RF3-AS1) n.756TGCGTGGCGGGGACCGGCC[1]:-,0.91:-,NOT_FOUND 2 109745929 rs1367274 C G 198 nt VT=SNV;PN=C;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=C/0.6476,G/0.3524;Gene=SH3RF3-AS1/NR_029193.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:147:127:0:0:75,72:2333,2088:0.00,198.43:0.00,126.66:0.00,71.77:0.00,1.00:0.00,1.00:0.00,1.00:60,70:10.8,42.3:0,0:0,0:54,55:90,91:31,32:-,NR_029193.1(SH3RF3-AS1) n.647G>C:-,0.35:-,NOT_FOUND 2 109746570 . G . . NT END=109964129;NT GT ./. 2 109746742 rs6743394 T A 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4042,A/0.5958;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+173T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,T:17:0:0:0:12,5:324,169:33.58,0.00:0.00,0.00:33.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:60.5,24.4:0,0:0,0:106,111:42,36:26,3:NM_001099289.1(SH3RF3) c.573+173T>A,-:0.62,-:NOT_FOUND,- 2 109815705 rs11123729 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1765,T/0.8235;NP=651;PC=0.003;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69136C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:139:15.81:7.85:7.95:1.00:1.00:1.00:60:51.8:0:0:89:59:10:NM_001099289.1(SH3RF3) c.573+69136C>T,NM_001099289.1(SH3RF3) c.573+69136C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 109815844 . T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69275T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,C,T:23:21:0:0:1,3,19:12,90,592:0.10,6.63,0.00:-0.30,2.08,0.00:0.40,4.56,0.00:0.00,0.47,0.00:0.00,0.88,0.00:0.00,0.69,0.00:4,25,57:191.0,190.0,142.7:0,0,0:0,0,0:74,81,42:34,32,89:0,27,23:NM_001099289.1(SH3RF3) c.573+69275T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 109815919 . T A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;NP=1;NP=9;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69350T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:A,C,T,I:36:31:1:1:5,1,29,1:102,31,741,20:6.53,1.67,0.00,0.61:2.72,1.72,0.00,0.66:3.81,-0.05,0.00,-0.05:0.78,0.00,0.00,0.00:0.97,0.00,0.00,0.00:0.61,0.00,0.00,0.00:57,7,54,39:173.0,271.0,157.8,122.0:0,0,0,0:0,0,0,0:52,113,87,60:72,31,35,89:33,0,26,0:NM_001099289.1(SH3RF3) c.573+69350T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 109815951 rs376966323 G GA 13 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3;NP=33;PC=0.002;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69383_573+69384insA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G,GA:39:25:11:1:3,25,11:72,639,178:4.51,0.00,13.40:4.85,0.00,8.21:-0.35,0.00,5.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:54,57,40:170.7,178.1,166.2:3,9,0:0,0,0:55,119,52:64,7,85:14,26,32:-,NM_001099289.1(SH3RF3) c.573+69382_573+69383insA:-,NOT_FOUND:-,NOT_FOUND 2 109815963 rs377382949 T A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.028;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69394T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,C,G,T:48:22:0:0:5,2,1,40:118,41,20,939:7.46,1.87,0.49,0.00:0.59,2.11,0.71,0.00:6.87,-0.23,-0.22,0.00:0.73,0.00,0.00,0.00:0.82,0.00,0.00,0.00:0.92,0.00,0.00,0.00:54,23,16,59:206.8,123.5,287.0,161.1:0,0,0,2:0,0,0,0:28,56,99,42:123,66,52,85:18,43,0,32:NM_001099289.1(SH3RF3) c.573+69394T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 109815966 rs369613630 G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=38;PC=0.033;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69397G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,G:46:19:0:0:5,41:142,836:9.82,0.00:1.30,0.00:8.52,0.00:0.74,0.00:0.80,0.00:0.92,0.00:40,59:208.4,166.7:0,1:0,0:129,42:22,101:9,28:NM_001099289.1(SH3RF3) c.573+69397G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 109815993 . T A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=43;NP=3;PC=0.176;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69424T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,T,D:43:18:0:1:5,37,1:147,967,1:10.50,0.00,-0.37:3.74,0.00,-0.15:6.77,0.00,-0.23:0.75,0.00,0.00:0.81,0.00,0.00:0.92,0.00,0.00:40,59,1:183.8,169.0,67.0:0,1,1:0,0,0:72,61,49:74,76,88:22,21,0:NM_001099289.1(SH3RF3) c.573+69424T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 109816010 . G C 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;PC=0.151;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69441G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:C,G:38:14:0:0:5,33:115,989:7.57,0.00:-0.75,0.00:8.33,0.00:0.77,0.00:0.78,0.00:0.93,0.00:25,59:213.6,171.7:0,3:0,0:63,78:62,59:3,20:NM_001099289.1(SH3RF3) c.573+69441G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 109816028 . T C 10 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;PC=0.130;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69459T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:A,C,T:32:8:0:0:1,4,27:36,134,844:2.20,10.13,0.00:-0.07,5.66,0.00:2.27,4.47,0.00:0.00,0.63,0.00:0.00,0.61,0.00:0.00,0.92,0.00:36,17,58:168.0,200.0,170.9:0,0,0:0,0,0:71,76,94:64,57,39:0,5,16:NM_001099289.1(SH3RF3) c.573+69459T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 109816067 rs143294705 A G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.081;Gene=SH3RF3/NM_001099289.2/1;CC=c.573+69498A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,C,G:26:7:0:0:22,1,3:630,14,102:0.00,0.20,7.65:0.00,-0.09,1.28:0.00,0.29,6.37:0.00,0.00,0.45:0.00,0.00,0.54:0.00,0.00,0.84:58,40,49:169.6,241.0,183.0:0,0,0:0,0,0:121,114,124:7,37,19:9,0,0:-,NM_001099289.1(SH3RF3) c.573+69498A>G:-,NOT_FOUND:-,NOT_FOUND 2 109963944 rs57699027 C G 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8107,G/0.1893;Gene=SH3RF3/NM_001099289.2/1;CC=c.574-186C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:24:24:0:0:1,11,12:11,390,355:0.18,0.00,34.29:0.18,0.00,34.29:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:69.0,1.5,35.8:0,0,0:0,0,0:121,71,48:28,80,101:0,38,24:-,NM_001099289.1(SH3RF3) c.574-186C>G:-,0.18:-,NOT_FOUND 2 109964406 . G . . NT END=109988041;NT GT ./. 2 109988138 . G . . NT END=110015045;NT GT ./. 2 109988215 rs11680644 C G 49 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4702,G/0.5298;Gene=SH3RF3/NM_001099289.2/1;CC=c.945+78C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:31:4:0:0:15,16:487,512:0.00,49.50:0.00,1.42:0.00,48.08:0.00,1.00:0.00,0.95:0.00,1.00:60,60:6.3,47.8:0,0:0,0:93,115:58,35:40,19:-,NM_001099289.1(SH3RF3) c.945+78C>G:-,0.52:-,NOT_FOUND 2 110015400 . G . . NT END=110035994;NT GT ./. 2 110015635 rs4676085 T C 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4926,C/0.5074;Gene=SH3RF3/NM_001099289.2/1;CC=c.1299+236T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:7:0:0:0:4,3:141,99:13.93,0.00:0.00,0.00:13.93,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:43.5,10.0:0,0:0,0:109,111:41,40:11,26:NM_001099289.1(SH3RF3) c.1299+236T>C,-:0.49,-:NOT_FOUND,- 2 110036099 . G . . NT END=110048956;NT GT ./. 2 110049128 . G . . NT END=110053348;NT GT ./. 2 110049235 rs7558217 G A 92 nt VT=SNV;PN=A;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.5931,A/0.4069;Gene=SH3RF3/NM_001099289.2/1;CC=c.1574+108G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:2:0:0:31,24:932,794:91.55,0.00:-0.36,0.00:91.91,0.00:1.00,0.00:0.84,0.00:1.00,0.00:60,60:49.3,11.2:0,0:0,0:107,86:44,61:36,45:NM_001099289.1(SH3RF3) c.1574+108G>A,-:0.42,-:NOT_FOUND,- 2 110053209 rs7370446 T G 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.5437,G/0.4563;PC=0.001;Gene=SH3RF3/NM_001099289.2/1;CC=c.1575-140T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:41:41:0:0:17,24:551,715:51.15,0.00:51.26,0.00:-0.12,0.00:1.00,0.00:1.00,0.00:0.61,0.00:60,60:68.5,11.2:0,0:0,0:60,36:91,114:28,24:NM_001099289.1(SH3RF3) c.1575-140T>G,-:0.47,-:NOT_FOUND,- 2 110053248 rs7369523 C T 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.7418,T/0.2582;Gene=SH3RF3/NM_001099289.2/1;CC=c.1575-101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:70:65:0:0:40,1,29:1314,11,888:0.00,-0.08,82.21:0.00,-0.04,71.35:0.00,-0.04,10.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.6,11.0,54.4:0,0,0:0,0,0:42,18,42:106,132,107:23,0,29:-,NM_001099289.1(SH3RF3) c.1575-101C>T:-,0.29:-,NOT_FOUND 2 110053603 . G . . NT END=110065625;NT GT ./. 2 110065946 . G . . NT END=110107060;NT GT ./. 2 110107396 . A . . NT END=110301698;NT GT ./. 2 110302464 rs11541143 G A 55 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4441,A/0.5559;Gene=SEPT10/NM_144710.3/1;CC=c.1350-563C>T;VC=Intron;Gene=SEPT10/NM_178584.2/0;CC=c.1281-563C>T;VC=Intron;Gene=SEPT10/NR_047585.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:23:0:0:18,20:578,609:55.00,0.00:28.74,0.00:26.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,11.6:0,0:0,0:72,42:76,108:40,18:NM_144710.3(SEPT10) c.1350-563C>T,-:0.54,-:NOT_FOUND,- 2 110303120 . C . . NT END=110303219;NT GT ./. 2 110303312 rs6735752 G A 126 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.8842,A/0.1158;PC=0.025;Gene=SEPT10/NM_144710.3/1;CC=c.1349+315C>T;VC=Intron;Gene=SEPT10/NM_178584.2/0;CC=c.1280+315C>T;VC=Intron;Gene=SEPT10/NR_047585.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:101:57:0:0:41,59,1:1360,1758,11:126.20,0.00,-0.13:53.12,0.00,0.02:73.08,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.6,10.0,38.0:0,0,0:0,0,0:82,84,150:66,64,1:29,29,0:NM_144710.3(SEPT10) c.1349+315C>T,-:0.14,-:NOT_FOUND,- 2 110303815 . C . . NT END=110310663;NT GT ./. 2 110310797 . C . . NT END=110321942;NT GT ./. 2 110322112 . C . . NT END=110323339;NT GT ./. 2 110322117 rs201983944 C CA 70 rn VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.9896,CA/0.01038;NP=58;Gene=SEPT10/NM_144710.3/1;CC=c.860-7dupT;VC=Intron;Gene=SEPT10/NM_178584.2/0;CC=c.791-7dupT;VC=Intron;Gene=SEPT10/NR_047585.1/0;VC=NonCoding;DM=SEPT10/Septin;DM=SEPT10/Septin;DM=SEPT10/Septin;DM=SEPT10/Septin;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:87:28:27:2:3,56,26,2:70,1683,823,61:3.51,0.00,69.85,3.23:-0.16,0.00,19.01,0.96:3.67,0.00,50.84,2.26:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:82.0,8.7,10.0,0.0:2,0,1,0:0,0,0,0:126,93,72,70:23,48,66,37:11,33,31,33:-,NM_144710.3(SEPT10) c.860-7_860-6insT:-,0.04:-,NOT_FOUND 2 110323437 . C . . NT END=110325391;NT GT ./. 2 110325554 . C . . NT END=110332157;NT GT ./. 2 110325590 . AT A 9 rn VT=DEL;SST=Single;DP=40;NP=13;Gene=SEPT10/NM_144710.3/1;CC=c.601-38delA;VC=Intron;Gene=SEPT10/NM_178584.2/0;CC=c.532-38delA;VC=Intron;Gene=SEPT10/NR_047585.1/0;VC=NonCoding;DM=SEPT10/Septin;DM=SEPT10/Septin;DM=SEPT10/Septin;DM=SEPT10/Septin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:AT,C,A:39:15:0:5:34,1,4:1097,19,153:0.00,0.46,8.56:0.00,-0.09,3.80:0.00,0.55,4.76:0.00,0.00,0.59:0.00,0.00,0.70:0.00,0.00,0.93:60,60,60:11.3,262.0,4.0:0,0,1:0,0,0:89,79,129:48,71,22:37,0,6:-,NM_144710.3(SEPT10) c.601-38delA:-,NOT_FOUND:-,0.120588 2 110332020 rs540391413 TA T 9 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.5016,T/0.4984;DB;DBA=NA;PAF=TA/0.5016,T/0.4984;NP=2;Gene=SEPT10/NM_144710.3/1;CC=c.600+137delT;VC=Intron;Gene=SEPT10/NM_178584.2/0;CC=c.531+137delT;VC=Intron;Gene=SEPT10/NR_047585.1/0;VC=NonCoding;DM=SEPT10/Septin;DM=SEPT10/Septin;DM=SEPT10/Septin;DM=SEPT10/Septin;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:TA,I,T:5:7:2:5:1,1,3:35,66,124:0.00,2.77,9.18:0.00,2.77,9.18:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,60:85.0,22.0,34.0:0,1,1:0,0,0:8,31,67:122,116,83:0,29,34:-,NM_144710.3(SEPT10) c.600+137delT:-,NOT_FOUND:-,NOT_FOUND 2 110332345 . C . . NT END=110342702;NT GT ./. 2 110342899 . C . . NT END=110343297;NT GT ./. 2 110343416 . C . . NT END=110350623;NT GT ./. 2 110350697 . C . . NT END=110370688;NT GT ./. 2 110370773 . T . . NT END=110371374;NT GT ./. 2 110371493 rs3829700 A T 217 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=A/0.4325,T/0.5675;Gene=SEPT10/NM_144710.3/1;CC=c.-89T>A;VC=5UTR;Gene=SEPT10/NM_178584.2/0;CC=c.-89T>A;VC=5UTR;Gene=SEPT10/NR_047585.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:159:117:0:0:85,2,72:2726,17,2300:0.00,-0.26,217.27:0.00,-0.25,121.45:0.00,-0.00,95.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.7,55.0,39.4:0,0,0:0,0,0:77,61,80:66,89,67:28,19,30:-,NM_144710.3(SEPT10) c.-89T>A:-,0.54:-,NOT_FOUND 2 110371622 rs6594047 C G 504 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.00619,G/0.9938;NP=3;Gene=SEPT10/NM_144710.3/1;CC=c.-218G>C;VC=5UTR;Gene=SEPT10/NM_178584.2/0;CC=c.-218G>C;VC=5UTR;Gene=SEPT10/NR_047585.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:137:78:0:0:137:4391:504.20:190.52:313.67:1.00:1.00:1.00:60:60.6:0:0:66:80:30:NM_144710.3(SEPT10) c.-218G>C,NM_144710.3(SEPT10) c.-218G>C:1,1:NOT_FOUND,NOT_FOUND 2 110371692 rs7579996 C A 150 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.7192,A/0.2808;PC=0.109;Gene=SEPT10/NM_144710.3/1;CC=c.-288G>T;VC=5UTR;Gene=SEPT10/NM_178584.2/0;CC=c.-288G>T;VC=5UTR;Gene=SEPT10/NR_047585.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:112:41:0:0:52,60:1586,1948:149.76,0.00:48.30,0.00:101.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.2,32.8:0,0:0,0:102,93:47,52:27,34:NM_144710.3(SEPT10) c.-288G>T,-:0.29,-:NOT_FOUND,- 2 110371703 . C . . NT END=110372066;NT GT ./. 2 110371852 rs7603756 G A 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8998,A/0.1002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:9:0:0:11,15:245,417:21.99,0.00:7.34,0.00:14.65,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:43.9,53.7:0,0:0,0:96,82:55,60:44,48:NM_023016.3(SOWAHC) c.-156-u59G>A,-:0.13,-:NOT_FOUND,- 2 110372192 rs6594048 A G 870 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=235;DB;DBA=NA;PAF=NA;PC=0.685;Gene=SOWAHC/NM_023016.3/1;CC=c.126A>G;ProtCh=p.L42=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:235:169:0:0:1,233,1:12,7601,8:0.07,869.91,0.03:0.07,457.69,0.03:0.00,412.23,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:82.0,41.2,126.0:0,0,0:0,0,0:78,74,104:73,74,44:0,34,0:NM_023016.3(SOWAHC) c.126A>G (p.(=)),NM_023016.3(SOWAHC) c.126A>G (p.(=)):0.97,0.97:NOT_FOUND,NOT_FOUND 2 110373197 rs1560884 G A 322 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=229;DB;DBA=NA;PAF=G/0.6759,A/0.3241;PC=1.000;Gene=SOWAHC/NM_023016.3/1;CC=c.1131G>A;ProtCh=p.K377=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:229:129:0:0:107,2,120:3396,15,3809:322.38,-0.36,0.00:133.75,-0.12,0.00:188.63,-0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.2,169.0,8.0:0,0,1:0,0,0:66,54,82:84,94,68:36,9,37:NM_023016.3(SOWAHC) c.1131G>A (p.(=)),-:0.33,-:0.255805,- 2 110373645 . A . . NT END=110552042;NT GT ./. 2 110373938 rs4953850 T G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4391,G/0.5609;PC=0.001;Gene=SOWAHC/NM_023016.3/1;CC=c.*294T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:G,T:10:0:0:0:4,6:116,186:10.57,0.00:0.00,0.00:10.57,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:39.0,12.5:0,0:0,0:77,103:72,47:7,19:NM_023016.3(SOWAHC) c.*294T>G,-:0.55,-:NOT_FOUND,- 2 110452378 . ATGTG A 10 sb;idl,rn VT=DEL;SST=Single;DP=7;NP=27;PC=0.200;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A:4:4:0:7:4:168:10.44:0.52:9.92:0.90:0.97:0.99:60:3.5:3:0:47:86:17:chr2 g.110452379_110452382delTGTG (intergenic),chr2 g.110452379_110452382delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 110483635 rs70958739 G GGGGT 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=13;NP=5;NP=57;PC=0.014;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:G,GGGGT:7:5:3:0:4,3:125,93:0.00,8.66:0.00,2.50:0.00,6.15:0.00,0.69:0.00,0.93:0.00,0.93:60,70:12.2,8.3:0,0:0,0:34,65:105,86:9,3:-,chr2 g.110483635_110483636insGGGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 110490244 rs35656289 A G 33 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.03155,G/0.9685;PC=0.181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:283:32.59:30.60:1.99:1.00:1.00:1.00:60:32.8:0:0:47:104:23:chr2 g.110490243A>G (intergenic),chr2 g.110490243A>G (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 2 110517977 . GGGCGGCGGC G 62 nt VT=DEL;SST=Single;DP=28;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:GGGCGGCGGC,G:27:28:0:22:6,21:161,620:0.00,62.24:0.00,49.49:0.00,12.76:0.00,1.00:0.00,1.00:0.00,1.00:27,55:29.8,31.9:0,1:0,0:70,11:23,128:36,8:-,XR_109876.2(LOC100506563) n.-40_-32delGCCGCCGCC:-,NOT_FOUND:-,NOT_FOUND 2 110518533 . T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;NP=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:115:13.41:0.00:13.41:1.00:0.00:1.00:40:56.5:0:0:86:48:15:XR_109876.2(LOC100506563) n.-587A>G,XR_109876.2(LOC100506563) n.-587A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 110552115 . G . . NT END=110552261;NT GT ./. 2 110552147 . T C 11 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;PC=0.507;Gene=RGPD6/NM_001037866.1/0;CC=c.72+33T>C;VC=Intron;Gene=RGPD5/NM_032260.2/0;CC=c.72+33T>C;VC=Intron;Gene=RGPD6/NM_001123363.3/1;CC=c.72+33T>C;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+33T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:19:19:0:0:4,15:129,446:10.56,0.00:8.96,0.00:1.60,0.00:0.72,0.00:0.72,0.00:0.47,0.00:60,60:99.5,38.9:0,0:0,0:4,97:144,17:1,51:NM_005054.2(RGPD5) c.72+33T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 110552150 . A G 58 end,nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;NP=21;Gene=RGPD6/NM_001037866.1/0;CC=c.72+36A>G;VC=Intron;Gene=RGPD5/NM_032260.2/0;CC=c.72+36A>G;VC=Intron;Gene=RGPD6/NM_001123363.3/1;CC=c.72+36A>G;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+36A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:24:24:0:0:6,18:187,555:0.00,58.22:0.00,56.30:0.00,1.93:0.00,1.00:0.00,1.00:0.00,0.83:40,60:0.0,86.3:0,0:0,0:139,3:11,143:5,2:-,NM_005054.2(RGPD5) c.72+36A>G:-,NOT_FOUND:-,NOT_FOUND 2 110552167 . C G 10 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;Gene=RGPD6/NM_001037866.1/0;CC=c.72+53C>G;VC=Intron;Gene=RGPD5/NM_032260.2/0;CC=c.72+53C>G;VC=Intron;Gene=RGPD6/NM_001123363.3/1;CC=c.72+53C>G;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+53C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,G:55:55:0:0:50,5:1705,151:0.00,10.21:0.00,9.01:0.00,1.20:0.00,0.71:0.00,0.71:0.00,0.52:70,65:65.3,44.2:0,0:0,0:16,1:133,150:6,1:-,NM_005054.2(RGPD5) c.72+53C>G:-,NOT_FOUND:-,NOT_FOUND 2 110552183 . G C 46 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;PC=0.008;Gene=RGPD6/NM_001037866.1/0;CC=c.72+69G>C;VC=Intron;Gene=RGPD5/NM_032260.2/0;CC=c.72+69G>C;VC=Intron;Gene=RGPD6/NM_001123363.3/1;CC=c.72+69G>C;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+69G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:72:72:0:3:19,53:547,1575:45.74,0.00:38.59,0.00:7.15,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,70:70.2,42.7:15,31:0,0:34,18:116,126:5,8:NM_005054.2(RGPD5) c.72+69G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 110552184 rs368194978 GC G 46 nt VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=76;PC=0.005;Gene=RGPD6/NM_001037866.1/0;CC=c.72+71delC;VC=Intron;Gene=RGPD5/NM_032260.2/0;CC=c.72+71delC;VC=Intron;Gene=RGPD6/NM_001123363.3/1;CC=c.72+71delC;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+71delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,T,G:77:77:0:21:58,1,18:1836,9,552:0.00,-0.23,45.72:0.00,-0.19,37.75:0.00,-0.04,7.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:70,60,60:43.0,170.0,66.5:31,1,0:0,0,0:19,27,34:127,124,115:8,0,5:-,NM_005054.2(RGPD5) c.72+71delC:-,NOT_FOUND:-,NOT_FOUND 2 110552185 . C CGGCCG 85 idl,nt VT=INS;SST=Single;DP=59;NP=15;PC=0.005;Gene=RGPD6/NM_001037866.1/0;CC=c.72+73_72+74insCCGGG;VC=Intron;Gene=RGPD5/NM_032260.2/0;CC=c.72+73_72+74insCCGGG;VC=Intron;Gene=RGPD6/NM_001123363.3/1;CC=c.72+73_72+74insCCGGG;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+73_72+74insCCGGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CGGCCG:57:59:31:22:24,4,29:782,120,927:0.00,8.53,84.65:0.00,5.91,73.79:0.00,2.62,10.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:37.5,78.5,49.9:1,0,2:0,0,0:21,37,18:123,99,132:12,5,5:-,NM_005054.2(RGPD5) c.72+71_72+72insGGCCG:-,NOT_FOUND:-,NOT_FOUND 2 110552654 . G . . NT END=110559359;NT GT ./. 2 110559428 . G . . NT END=110561008;NT GT ./. 2 110561121 . G . . NT END=110561555;NT GT ./. 2 110561709 . G . . NT END=110565750;NT GT ./. 2 110565982 . G . . NT END=110566326;NT GT ./. 2 110566473 . G . . NT END=110571036;NT GT ./. 2 110571233 . G . . NT END=110577272;NT GT ./. 2 110577361 . G . . NT END=110579481;NT GT ./. 2 110579692 . G . . NT END=110581798;NT GT ./. 2 110581981 . G . . NT END=110582063;NT GT ./. 2 110582240 . G . . NT END=110582406;NT GT ./. 2 110582531 . G . . NT END=110583452;NT GT ./. 2 110583612 . G . . NT END=110583877;NT GT ./. 2 110584016 . G . . NT END=110584277;NT GT ./. 2 110584425 . G . . NT END=110585368;NT GT ./. 2 110585549 . G . . NT END=110585641;NT GT ./. 2 110585726 . G . . NT END=110588893;NT GT ./. 2 110589030 . G . . NT END=110590537;NT GT ./. 2 110590597 . G . . NT END=110592573;NT GT ./. 2 110592669 . G . . NT END=110593395;NT GT ./. 2 110595620 . G . . NT END=110596510;NT GT ./. 2 110596589 . G . . NT END=110598980;NT GT ./. 2 110599685 . t . . NT END=110602679;NT GT ./. 2 110602820 . G . . NT END=110605386;NT GT ./. 2 110605589 . G . . NT END=110613438;NT GT ./. 2 110613474 . G . . NT END=110656305;NT GT ./. 2 110656488 . G . . NT END=110660829;NT GT ./. 2 110660990 . G . . NT END=110663456;NT GT ./. 2 110663469 . T . . NT END=110843271;NT GT ./. 2 110742222 rs170878 A G 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.133,G/0.867;NP=1277;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:11:0:0:13:377:43.77:31.26:12.51:1.00:1.00:1.00:43:56.8:0:0:97:54:14:NR_046110.1(LOC440894) n.-2335A>G,NR_046110.1(LOC440894) n.-2335A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 110742285 rs574046620 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5811,G/0.4189;NP=126;PC=0.991 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:8:4:0:0:4,4:124,136:0.00,13.10:0.00,2.67:0.00,10.43:0.00,0.87:0.00,0.51:0.00,0.51:39,27:54.5,91.2:0,0:0,0:93,123:58,28:48,15:-,NR_046110.1(LOC440894) n.-2272A>G:-,NOT_FOUND:-,NOT_FOUND 2 110742338 rs336705 T C 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;NP=403;PC=0.107 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:6:0:0:10:323:37.07:22.86:14.21:1.00:1.00:1.00:41:41.9:0:0:21:129:20:NR_046110.1(LOC440894) n.-2219T>C,NR_046110.1(LOC440894) n.-2219T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 110767046 rs199561441 A G 66 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=2942;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:G,T:18:1:0:0:17,1:586,10:66.29,0.39:1.68,0.00:64.61,0.39:1.00,0.00:0.96,0.00:1.00,0.00:27,42:36.4,66.0:0,0:0,0:104,89:47,62:28,0:chr2 g.110767045A>G (intergenic),chr2 g.110767045A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 110767895 . A G 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:55:0:0:34,26:1112,795:0.00,74.04:0.00,63.97:0.00,10.07:0.00,1.00:0.00,1.00:0.00,1.00:50,50:10.5,40.2:0,0:0,0:64,48:75,99:44,15:-,chr2 g.110767894A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 110768263 rs336767 T C 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.132,C/0.868;NP=614;PC=0.808 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:4:0:0:8:267:30.52:14.12:16.40:1.00:1.00:1.00:27:38.9:0:0:93:58:12:chr2 g.110768262T>C (intergenic),chr2 g.110768262T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 110843335 . C . . NT END=110845148;NT GT ./. 2 110845275 . C . . NT END=110849179;NT GT ./. 2 110849348 . C . . NT END=110873264;NT GT ./. 2 110849506 . C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;NP=12;Gene=MALL/NM_005434.4/1;CC=c.106-159G>A;VC=Intron;DM=MALL/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,G,T:34:0:0:0:27,1,6:722,11,198:0.00,-0.05,15.89:0.00,0.00,0.00:0.00,-0.05,15.89:0.00,0.00,0.89:0.00,0.00,0.00:0.00,0.00,0.89:43,27,42:11.1,145.0,39.7:0,0,0:0,0,0:105,51,113:45,100,36:32,0,28:-,NM_005434.4(MALL) c.106-159G>A:-,NOT_FOUND:-,NOT_FOUND 2 110873370 . G . . NT END=110881367;NT GT ./. 2 110873470 rs542894291 G GA 16 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.6681,GA/0.3319;DB;DBA=NA;PAF=G/0.6681,GA/0.3319;NP=1;NP=54;PC=0.052;Gene=MALL/NM_005434.4/1;CC=c.-102dupT;VC=5UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:G,GA,D:22:3:7:2:14,6,2:462,216,61:0.00,15.82,4.38:0.00,-0.26,-0.08:0.00,16.09,4.46:0.00,0.92,0.00:0.00,0.63,0.00:0.00,0.99,0.00:60,60,60:34.5,34.3,38.0:0,1,0:0,0,0:132,84,93:18,67,58:16,31,10:-,NM_005434.4(MALL) c.-102dupT:-,NOT_FOUND:-,NOT_FOUND 2 110875203 rs11884115 A T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=325 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:1:4:132:15.11:5.16:9.94:1.00:1.00:1.00:60:87.2:0:0:85:55:30:NM_005434.4(MALL) c.-774-u1060T>A,NM_005434.4(MALL) c.-774-u1060T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 110875205 rs202203194 A T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=146 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:4:1:0:0:1,3:35,103:0.00,10.75:0.00,1.93:0.00,8.83:0.00,0.85:0.00,0.83:0.00,0.85:60,60:51.0,115.0:0,1:0,0:98,76:52,54:0,20:-,NM_005434.4(MALL) c.-774-u1062T>A:-,NOT_FOUND:-,NOT_FOUND 2 110881641 . C . . NT END=110882765;NT GT ./. 2 110882699 rs2048243 A G 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6228,G/0.3772;Gene=NPHP1/NM_000272.3/1;CC=c.1929+515T>C;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.1761+515T>C;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.1572+515T>C;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.1926+515T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:29:0:0:23,10:688,324:0.00,28.40:0.00,22.60:0.00,5.80:0.00,1.00:0.00,1.00:0.00,0.92:60,60:17.8,51.1:0,0:0,0:74,46:77,104:39,14:-,NM_000272.3(NPHP1) c.1929+515T>C:-,0.38:-,NOT_FOUND 2 110882901 . C . . NT END=110883213;NT GT ./. 2 110883259 . C . . NT END=110886762;NT GT ./. 2 110886686 rs3838315 A AGACCAGAT 21 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.522,AGACCA/.,AGACCAGAT/0.478;NP=3;Gene=NPHP1/NM_000272.3/1;CC=c.1884+76_1884+77insATCTGGTC;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.1716+76_1716+77insATCTGGTC;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.1527+76_1527+77insATCTGGTC;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.1881+76_1881+77insATCTGGTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGACCAGAT:19:18:7:0:12,7:334,230:0.00,20.95:0.00,21.25:0.00,-0.30:0.00,0.98:0.00,1.00:0.00,0.67:60,60:20.0,2.6:1,0:0,0:53,63:97,88:22,27:-,NM_000272.3(NPHP1) c.1884+76_1884+77insATCTGGTC:-,NOT_FOUND:-,NOT_FOUND 2 110886837 . C . . NT END=110889255;NT GT ./. 2 110889369 . C . . NT END=110901118;NT GT ./. 2 110901219 . C . . NT END=110902069;NT GT ./. 2 110902147 . C . . NT END=110904329;NT GT ./. 2 110902262 rs3752863 G A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.605,A/0.395;PC=0.004;Gene=NPHP1/NM_000272.3/1;CC=c.1521-116C>T;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.1353-116C>T;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.1164-116C>T;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.1518-116C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:8,8:222,242:21.16,0.00:0.00,0.00:21.16,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.1,5.2:0,0:0,0:120,88:30,63:18,42:NM_000272.3(NPHP1) c.1521-116C>T,-:0.38,-:NOT_FOUND,- 2 110904413 . C . . NT END=110905492;NT GT ./. 2 110905604 . C . . NT END=110907758;NT GT ./. 2 110905664 rs1509417 G A 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.525,A/0.475;Gene=NPHP1/NM_000272.3/1;CC=c.1327-61C>T;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.1159-61C>T;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.970-61C>T;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.1324-61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,G:21:3:0:0:15,6:480,209:49.70,0.00:3.41,0.00:46.29,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:59.2,1.8:0,0:0,0:101,94:50,57:38,17:NM_000272.3(NPHP1) c.1327-61C>T,-:0.45,-:NOT_FOUND,- 2 110905743 rs1509416 T A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6212,A/0.3788;PC=0.012;Gene=NPHP1/NM_000272.3/1;CC=c.1327-140A>T;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.1159-140A>T;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.970-140A>T;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.1324-140A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:A,G,T:8:0:0:0:5,1,2:168,10,64:17.31,0.51,0.00:0.00,0.00,0.00:17.31,0.51,0.00:0.97,0.00,0.00:0.00,0.00,0.00:0.97,0.00,0.00:60,60,60:59.8,86.0,0.0:0,0,0:0,0,0:95,94,112:55,57,39:3,0,19:NM_000272.3(NPHP1) c.1327-140A>T,-:0.37,-:NOT_FOUND,- 2 110907834 . C . . NT END=110917703;NT GT ./. 2 110917833 . C . . NT END=110919179;NT GT ./. 2 110918038 rs58635772 A AT 7 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5206,AT/0.4794;DB;DBA=NA;PAF=A/0.5206,AT/0.4794;NP=127;PC=0.001;Gene=NPHP1/NM_000272.3/1;CC=c.1123-207dupA;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.955-207dupA;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.766-207dupA;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.1120-207dupA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,AT:7:0:3:0:4,3:133,73:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,44.7:0,0:0,0:125,92:26,58:11,43:-,NM_000272.3(NPHP1) c.1123-207_1123-206insA:-,0.46:-,NOT_FOUND 2 110919275 . C . . NT END=110920624;NT GT ./. 2 110919321 rs2271244 C T 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.622,T/0.378;PC=0.040;Gene=NPHP1/NM_000272.3/1;CC=c.1028-47G>A;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.860-47G>A;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.671-47G>A;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.1025-47G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:6:0:0:6,8:194,273:0.00,26.96:0.00,7.12:0.00,19.85:0.00,1.00:0.00,0.99:0.00,1.00:60,60:3.7,37.2:0,0:0,0:110,123:36,25:18,9:-,NM_000272.3(NPHP1) c.1028-47G>A:-,0.37:-,0.28099 2 110920713 . C . . NT END=110922096;NT GT ./. 2 110922064 rs376683260 C CA 17 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;Gene=NPHP1/NM_000272.3/1;CC=c.939+32dupT;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.771+200dupT;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.585+200dupT;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.939+32dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:A,C,CA,D:23:24:8:3:1,14,6,2:10,463,263,66:0.06,0.00,17.08,4.86:-0.23,0.00,17.20,4.89:0.29,0.00,-0.12,-0.04:0.00,0.00,0.92,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.60,0.00:60,60,60,60:62.0,32.4,29.5,15.0:0,0,2,0:0,0,0,0:52,27,35,54:99,116,114,96:0,21,25,38:-,NM_000272.3(NPHP1) c.939+32_939+33insT:-,NOT_FOUND:-,NOT_FOUND 2 110922308 . C . . NT END=110922628;NT GT ./. 2 110922703 rs11675767 C T 91 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=in-clinvar;PAF=C/0.5256,T/0.4744;PC=0.051;Gene=NPHP1/NM_000272.3/1;CC=c.654G>A;ProtCh=p.E218=;VC=Silent;Gene=NPHP1/NM_001128178.1/0;CC=c.654G>A;ProtCh=p.E218=;VC=Silent;Gene=NPHP1/NM_001128179.1/0;CC=c.468G>A;ProtCh=p.E156=;VC=Silent;Gene=NPHP1/NM_207181.2/0;CC=c.654G>A;ProtCh=p.E218=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:41:0:0:36,29:1217,967:0.00,91.13:0.00,36.36:0.00,54.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,34.0:0,0:0,0:80,91:69,59:29,19:-,NM_000272.3(NPHP1) c.654G>A (p.(=)):-,0.45:-,0.378825 2 110922733 . C . . NT END=110926028;NT GT ./. 2 110926131 . C . . NT END=110927382;NT GT ./. 2 110927576 . C . . NT END=110935999;NT GT ./. 2 110935867 rs2271245 A G 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6204,G/0.3796;Gene=NPHP1/NM_000272.3/1;CC=c.329+133T>C;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.329+133T>C;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.144-8292T>C;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.329+133T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:8,10:265,324:0.00,31.77:0.00,31.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,36.2:0,0:0,0:53,62:97,88:44,46:-,NM_000272.3(NPHP1) c.329+133T>C:-,0.37:-,NOT_FOUND 2 110936125 . C . . NT END=110937200;NT GT ./. 2 110937262 . C . . NT END=110958997;NT GT ./. 2 110942150 rs881302 G A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6893,A/0.3107;PC=1.000;Gene=NPHP1/NM_000272.3/1;CC=c.144-4889C>T;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.144-4889C>T;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.144-14575C>T;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.144-4889C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,G,T:11:7:0:0:4,6,1:108,204,13:9.75,0.00,0.54:3.77,0.00,-0.12:5.99,0.00,0.66:0.82,0.00,0.00:0.94,0.00,0.00:0.96,0.00,0.00:60,60,60:27.0,12.7,13.0:0,0,0:0,0,0:106,59,83:43,92,67:11,17,0:NM_000272.3(NPHP1) c.144-4889C>T,-:0.31,-:NOT_FOUND,- 2 110958925 rs35810959 C A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9872,A/0.01278;PC=0.001;Gene=NPHP1/NM_000272.3/1;CC=c.143+73G>T;VC=Intron;Gene=NPHP1/NM_001128178.1/0;CC=c.143+73G>T;VC=Intron;Gene=NPHP1/NM_001128179.1/0;CC=c.143+73G>T;VC=Intron;Gene=NPHP1/NM_207181.2/0;CC=c.143+73G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,C:15:15:0:0:9,6:286,192:28.51,0.00:26.73,0.00:1.78,0.00:1.00,0.00:1.00,0.00:0.73,0.00:60,60:56.9,12.2:0,0:0,0:37,31:114,119:25,29:NM_000272.3(NPHP1) c.143+73G>T,-:0.02,-:NOT_FOUND,- 2 110959026 rs33958626 G T 60 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=G/0.9872,T/0.01278;PC=0.722;Gene=NPHP1/NM_000272.3/1;CC=c.115C>A;ProtCh=p.P39T;VC=Missense;Gene=NPHP1/NM_001128178.1/0;CC=c.115C>A;ProtCh=p.P39T;VC=Missense;Gene=NPHP1/NM_001128179.1/0;CC=c.115C>A;ProtCh=p.P39T;VC=Missense;Gene=NPHP1/NM_207181.2/0;CC=c.115C>A;ProtCh=p.P39T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:36:0:0:20,20:666,630:0.00,60.47:0.00,36.16:0.00,24.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,39.5:0,0:0,0:47,56:93,95:22,35:-,NM_000272.3(NPHP1) c.115C>A (p.Pro39Thr):-,0.02:-,0.02768 2 110959072 . C . . NT END=110962476;NT GT ./. 2 110962546 . C . . NT END=111273187;NT GT ./. 2 110962677 . T C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:0:0:0:10,13:307,364:28.64,0.00:0.00,0.00:28.64,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.7,17.9:0,0:0,0:85,85:65,66:36,36:NM_000272.3(NPHP1) c.-94-u38A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 111118951 rs62162586 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1193;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:29:18:0:0:23,6:719,207:0.00,17.14:0.00,13.71:0.00,3.43:0.00,0.90:0.00,0.96:0.00,0.98:43,42:10.4,39.3:0,0:0,0:93,85:58,60:23,13:-,chr2 g.111118950C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 111120183 . C T 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;NP=80;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:24:0:0:35,12:1131,394:0.00,33.55:0.00,4.53:0.00,29.02:0.00,1.00:0.00,1.00:0.00,1.00:44,43:15.2,35.3:0,0:0,0:97,108:54,35:29,35:-,chr2 g.111120182C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 111124481 rs202221693 A G 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=343;PC=0.599 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G:9:6:0:0:5,4:129,111:0.00,10.31:0.00,4.37:0.00,5.94:0.00,0.85:0.00,0.96:0.00,0.96:52,55:11.0,46.2:0,0:0,0:43,31:103,107:23,20:-,chr2 g.111124480A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 111124521 rs373046698 GAC G 11 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=22;PC=0.305;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:GAC,G:12:6:0:4:8,4:248,128:0.00,11.39:0.00,2.58:0.00,8.81:0.00,0.80:0.00,0.42:0.00,0.96:55,39:20.2,19.2:0,0:0,0:51,53:93,97:20,27:-,chr2 g.111124522_111124523delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 111144370 . T C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;NP=79;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:9:5:0:0:3,6:105,189:9.44,0.00:6.46,0.00:2.98,0.00:0.96,0.00:0.86,0.00:0.86,0.00:27,51:69.7,18.3:0,0:0,0:66,107:85,42:5,31:NR_027244.1(LOC151009) n.-2257A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 111144433 . T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;NP=56;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:8:6:0:0:3,5:104,159:9.53,0.00:6.19,0.00:3.35,0.00:0.67,0.00:0.93,0.00:0.67,0.00:27,42:69.7,23.2:0,0:0,0:129,71:22,80:5,27:NR_027244.1(LOC151009) n.-2320A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 111273223 . C . . NT END=111281072;NT GT ./. 2 111281275 . C . . NT END=111283841;NT GT ./. 2 111283982 . C . . NT END=111286976;NT GT ./. 2 111287681 . C . . NT END=111290072;NT GT ./. 2 111290151 . C . . NT END=111291041;NT GT ./. 2 111293266 . C . . NT END=111293992;NT GT ./. 2 111294088 . C . . NT END=111296064;NT GT ./. 2 111296125 . g . . NT END=111297631;NT GT ./. 2 111297768 . C . . NT END=111300935;NT GT ./. 2 111301020 . C . . NT END=111301112;NT GT ./. 2 111301293 . C . . NT END=111302236;NT GT ./. 2 111302384 . C . . NT END=111302645;NT GT ./. 2 111302784 . C . . NT END=111303049;NT GT ./. 2 111303209 . C . . NT END=111304130;NT GT ./. 2 111304255 . C . . NT END=111304421;NT GT ./. 2 111304598 . C . . NT END=111304680;NT GT ./. 2 111304863 . C . . NT END=111306969;NT GT ./. 2 111307180 . C . . NT END=111309300;NT GT ./. 2 111309389 . C . . NT END=111315428;NT GT ./. 2 111315625 . C . . NT END=111320188;NT GT ./. 2 111320335 . C . . NT END=111320679;NT GT ./. 2 111320911 . C . . NT END=111324952;NT GT ./. 2 111325106 . C . . NT END=111325540;NT GT ./. 2 111325653 . C . . NT END=111327233;NT GT ./. 2 111327302 . C . . NT END=111334008;NT GT ./. 2 111334401 . A . . NT END=111334529;NT GT ./. 2 111334478 . T C 13 sb;idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;PC=0.241;Gene=RGPD6/NM_001123363.3/1;CC=c.72+52A>G;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+52A>G;VC=Intron;Gene=RGPD6/NM_001037866.1/0;CC=c.72+52A>G;VC=Intron;Gene=RGPD5/NM_032260.2/0;CC=c.72+52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,G,T,D:71:32:0:4:14,5,50,2:210,129,1142,6:13.24,8.09,0.00,-0.56:1.45,-0.72,0.00,-0.24:11.78,8.81,0.00,-0.33:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,27,60,3:46.9,53.6,10.5,0.0:0,0,0,0:0,0,0,0:19,150,6,3:130,1,140,147:8,0,5,1:NM_001123363.3(RGPD6) c.72+52A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 111334602 . C . . NT END=111395540;NT GT ./. 2 111368185 . A C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,C:8:8:0:0:3,5:88,93:0.00,9.31:0.00,9.31:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:40,40:0.0,93.4:0,0:0,0:10,96:141,48:0,22:-,XR_109898.2(LOC100507581) n.-518A>C:-,NOT_FOUND:-,NOT_FOUND 2 111395737 . C . . NT END=111397318;NT GT ./. 2 111397426 . C . . NT END=111398610;NT GT ./. 2 111398783 . C . . NT END=111398883;NT GT ./. 2 111399042 . C . . NT END=111399218;NT GT ./. 2 111399381 . C . . NT END=111399695;NT GT ./. 2 111399812 . C . . NT END=111406810;NT GT ./. 2 111406724 . TCA T 7 rn VT=DEL;SST=Single;DP=16;NP=44;PC=0.001;Gene=BUB1/NM_001278616.1/0;CC=c.2287+85_2287+86delTG;VC=Intron;Gene=BUB1/NM_001278617.1/0;CC=c.2347+85_2347+86delTG;VC=Intron;Gene=BUB1/NM_004336.4/1;CC=c.2347+85_2347+86delTG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TCA,T:16:16:0:3:13,3:398,87:0.00,6.78:0.00,6.87:0.00,-0.09:0.00,0.54:0.00,0.54:0.00,0.45:60,60:14.5,3.0:0,0:0,0:41,75:110,76:30,43:-,NM_004336.3(BUB1) c.2347+85_2347+86delTG:-,NOT_FOUND:-,NOT_FOUND 2 111406955 . C . . NT END=111408122;NT GT ./. 2 111406968 . GA G 7 idl,rn VT=DEL;SST=Single;DP=34;NP=2;Gene=BUB1/NM_001278616.1/0;CC=c.2144-15delT;VC=Intron;Gene=BUB1/NM_001278617.1/0;CC=c.2204-15delT;VC=Intron;Gene=BUB1/NM_004336.4/1;CC=c.2204-15delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,GA,I,G:33:17:2:6:4,24,2,3:55,695,68,117:2.61,0.00,4.67,6.61:-0.49,0.00,3.74,2.31:3.10,0.00,0.93,4.30:0.00,0.00,0.00,0.40:0.00,0.00,0.00,0.68:0.00,0.00,0.00,0.83:60,60,60,60:81.8,31.3,0.0,22.7:1,0,0,1:0,0,0,0:69,95,85,82:74,45,58,62:12,33,0,20:-,NM_004336.3(BUB1) c.2204-15delT:-,NOT_FOUND:-,NOT_FOUND 2 111408362 . C . . NT END=111411012;NT GT ./. 2 111411101 . C . . NT END=111413315;NT GT ./. 2 111413494 . C . . NT END=111414612;NT GT ./. 2 111414695 . C . . NT END=111415122;NT GT ./. 2 111415223 . C . . NT END=111415986;NT GT ./. 2 111416098 . C . . NT END=111416190;NT GT ./. 2 111416320 . C . . NT END=111417554;NT GT ./. 2 111417614 . C . . NT END=111419158;NT GT ./. 2 111419419 . C . . NT END=111423839;NT GT ./. 2 111423992 . C . . NT END=111425097;NT GT ./. 2 111424201 . T TA 7 rn VT=INS;SST=Single;DP=11;NP=9;PC=0.005;Gene=BUB1/NM_001278616.1/0;CC=c.746-211dupT;VC=Intron;Gene=BUB1/NM_001278617.1/0;CC=c.806-211dupT;VC=Intron;Gene=BUB1/NM_004336.4/1;CC=c.806-211dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:T,TA,D:11:0:3:1:7,3,1:174,85,33:0.00,7.28,2.45:0.00,0.00,0.00:0.00,7.28,2.45:0.00,0.60,0.00:0.00,0.00,0.00:0.00,0.60,0.00:60,60,60:26.6,27.3,0.0:0,0,0:0,0,0:104,95,101:39,55,49:9,9,0:-,NM_004336.3(BUB1) c.806-211_806-210insT:-,NOT_FOUND:-,NOT_FOUND 2 111425283 . C . . NT END=111425373;NT GT ./. 2 111425427 . C . . NT END=111427029;NT GT ./. 2 111427131 . C . . NT END=111428101;NT GT ./. 2 111428146 . C . . NT END=111430237;NT GT ./. 2 111430435 . C . . NT END=111431662;NT GT ./. 2 111431802 . C . . NT END=111431882;NT GT ./. 2 111431943 . C . . NT END=111435546;NT GT ./. 2 111435573 . G . . NT END=111525966;NT GT ./. 2 111526042 . G . . NT END=111542308;NT GT ./. 2 111542393 . G . . NT END=111551226;NT GT ./. 2 111551314 . G . . NT END=111551652;NT GT ./. 2 111551752 . G . . NT END=111556186;NT GT ./. 2 111556302 . G . . NT END=111556590;NT GT ./. 2 111556678 . G . . NT END=111559228;NT GT ./. 2 111559302 . G . . NT END=111562839;NT GT ./. 2 111562973 . G . . NT END=111598947;NT GT ./. 2 111598983 . G . . NT END=111666365;NT GT ./. 2 111666483 . G . . NT END=111691065;NT GT ./. 2 111691220 . G . . NT END=111744684;NT GT ./. 2 111725811 rs13432362 A G 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.6623,G/0.3377;PC=1.000;Gene=ACOXL/NM_001142807.1/1;CC=c.1060-18874A>G;VC=Intron;DM=ACOXL/Acyl-CoA_dh_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:20:0:0:26,22:772,758:0.00,71.93:0.00,25.31:0.00,46.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,41.0:0,0:0,0:66,78:83,72:48,43:-,NM_001142807.1(ACOXL) c.1060-18874A>G:-,0.38:-,NOT_FOUND 2 111726101 rs72944287 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8726,A/0.1274;PC=0.990;Gene=ACOXL/NM_001142807.1/1;CC=c.1060-18584G>A;VC=Intron;DM=ACOXL/Acyl-CoA_dh_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:16:0:0:9,17:284,555:25.38,0.00:21.17,0.00:4.21,0.00:0.99,0.00:1.00,0.00:0.99,0.00:60,60:42.6,5.4:0,0:0,0:76,87:75,64:30,20:NM_001142807.1(ACOXL) c.1060-18584G>A,-:0.12,-:NOT_FOUND,- 2 111726355 rs59367982 C CA 11 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.616,A/0.384;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=2;PC=0.987;Gene=ACOXL/NM_001142807.1/1;CC=c.1060-18315_1060-18314insA;VC=Intron;DM=ACOXL/Acyl-CoA_dh_1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,C,CA:10:3:5:0:1,5,4:33,158,146:2.53,0.00,10.77:-0.04,0.00,4.76:2.57,0.00,6.01:0.00,0.00,0.82:0.00,0.00,0.76:0.00,0.00,0.97:50,60,70:121.0,14.2,41.8:1,0,1:0,0,0:119,147,103:32,4,38:0,3,14:-,NM_001142807.1(ACOXL) c.1060-18330_1060-18329insA:-,NOT_FOUND:-,NOT_FOUND 2 111744795 . G . . NT END=111753469;NT GT ./. 2 111753228 rs6542248 C A 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1064,A/0.8936;PC=0.023;Gene=ACOXL/NM_001142807.1/1;CC=c.1170-242C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:199:23.19:23.19:0.00:1.00:1.00:0.00:60:37.4:0:0:27:124:16:NM_001142807.1(ACOXL) c.1170-242C>A,NM_001142807.1(ACOXL) c.1170-242C>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 111753449 rs3761707 G C 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.5609,C/0.4391;Gene=ACOXL/NM_001142807.1/1;CC=c.1170-21G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:38:32:0:0:17,21:565,676:53.28,0.00:28.49,0.00:24.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,5.9:0,0:0,0:38,19:112,129:25,14:NM_001142807.1(ACOXL) c.1170-21G>C,-:0.42,-:0.452407,- 2 111753582 . G . . NT END=111789203;NT GT ./. 2 111789292 . G . . NT END=111806794;NT GT ./. 2 111806866 . G . . NT END=111850441;NT GT ./. 2 111850544 . G . . NT END=111875192;NT GT ./. 2 111875394 . C . . NT END=111880231;NT GT ./. 2 111878550 . T C 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;NP=2;Gene=BCL2L11/NM_207002.3/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204113.1/1;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204106.1/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204107.1/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204108.1/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204109.1/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204110.1/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204111.1/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_001204112.1/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_006538.4/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_138621.4/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_138622.3/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_138623.3/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_138624.3/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_138625.3/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_138626.3/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_138627.3/0;CC=c.-229T>C;VC=5UTR;Gene=BCL2L11/NM_207003.2/0;CC=c.-229T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,I:46:39:1:0:14,31,1:438,1007,6:38.37,0.00,-0.23:36.06,0.00,-0.15:2.31,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,6:123.4,32.1,136.0:0,0,0:0,0,0:7,60,78:128,51,55:6,38,0:NM_001204106.1(BCL2L11) c.-229T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 111878556 . T C 54 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;NP=1;Gene=BCL2L11/NM_207002.3/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204113.1/1;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204106.1/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204107.1/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204108.1/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204109.1/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204110.1/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204111.1/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_001204112.1/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_006538.4/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_138621.4/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_138622.3/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_138623.3/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_138624.3/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_138625.3/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_138626.3/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_138627.3/0;CC=c.-223T>C;VC=5UTR;Gene=BCL2L11/NM_207003.2/0;CC=c.-223T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:C,T,I,D:47:41:1:15:18,15,1,13:564,450,33,449:54.19,0.00,1.95,35.01:46.54,0.00,1.00,18.10:7.65,0.00,0.95,16.91:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:107.9,41.8,0.0,47.5:0,1,0,2:0,0,0,0:8,77,64,41:123,43,87,71:5,33,0,23:NM_001204106.1(BCL2L11) c.-223T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 111878562 rs1439286 C T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=BCL2L11/NM_207002.3/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204113.1/1;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204106.1/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204107.1/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204108.1/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204109.1/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204110.1/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204111.1/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_001204112.1/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_006538.4/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_138621.4/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_138622.3/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_138623.3/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_138624.3/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_138625.3/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_138626.3/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_138627.3/0;CC=c.-217C>T;VC=5UTR;Gene=BCL2L11/NM_207003.2/0;CC=c.-217C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,G,T:53:44:0:2:44,1,8:1390,14,269:0.00,0.01,21.02:0.00,-0.23,5.74:0.00,0.23,15.29:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:73.8,27.0,36.1:14,0,0:0,0,0:20,95,96:113,37,37:11,0,26:-,NM_001204106.1(BCL2L11) c.-217C>T:-,0.46:-,NOT_FOUND 2 111878565 rs3929143 C T 53 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.003;Gene=BCL2L11/NM_207002.3/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204113.1/1;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204106.1/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204107.1/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204108.1/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204109.1/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204110.1/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204111.1/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_001204112.1/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_006538.4/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_138621.4/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_138622.3/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_138623.3/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_138624.3/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_138625.3/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_138626.3/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_138627.3/0;CC=c.-214C>T;VC=5UTR;Gene=BCL2L11/NM_207003.2/0;CC=c.-214C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:58:48:0:1:39,1,18:1167,7,599:0.00,-0.22,53.07:0.00,-0.17,26.88:0.00,-0.04,26.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:71.3,7.0,49.2:1,0,13:0,0,0:26,0,28:86,151,106:15,0,24:-,NM_001204106.1(BCL2L11) c.-214C>T:-,0.13:-,NOT_FOUND 2 111880284 rs4302219 G T 307 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=224;DB;DBA=NA;PAF=G/0.6512,T/0.3488;PC=0.998;Gene=BCL2L11/NM_207002.3/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204113.1/1;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204106.1/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204107.1/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204108.1/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204109.1/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204111.1/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_138621.4/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_138622.3/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_138623.3/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_138624.3/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_138625.3/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_138626.3/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.-13-1026G>T;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.-13-1026G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:224:170:0:0:114,110:3739,3227:0.00,307.47:0.00,176.16:0.00,131.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,42.2:0,0:0,0:65,66:81,83:31,30:-,NM_001204106.1(BCL2L11) c.-13-1026G>T:-,0.42:-,NOT_FOUND 2 111880501 . G . . NT END=111880787;NT GT ./. 2 111880600 rs7602904 C T 142 nt VT=SNV;PN=C;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.6256,T/0.3744;PC=0.052;Gene=BCL2L11/NM_207002.3/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204113.1/1;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204106.1/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204107.1/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204108.1/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204109.1/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204111.1/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_138621.4/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_138622.3/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_138623.3/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_138624.3/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_138625.3/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_138626.3/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.-13-710C>T;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.-13-710C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:32:0:0:38,44:1238,1452:0.00,141.63:0.00,58.19:0.00,83.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,74.0:0,0:0,0:71,85:79,65:37,33:-,NM_001204106.1(BCL2L11) c.-13-710C>T:-,0.41:-,NOT_FOUND 2 111880623 rs1821968 C T 133 nt VT=SNV;PN=C;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.6498,T/0.3502;PC=0.001;Gene=BCL2L11/NM_207002.3/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204113.1/1;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204106.1/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204107.1/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204108.1/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204109.1/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204111.1/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_138621.4/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_138622.3/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_138623.3/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_138624.3/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_138625.3/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_138626.3/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.-13-687C>T;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.-13-687C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:36:0:0:41,42:1295,1376:0.00,132.65:0.00,61.84:0.00,70.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,78.7:0,0:0,0:67,96:84,53:38,36:-,NM_001204106.1(BCL2L11) c.-13-687C>T:-,0.4:-,NOT_FOUND 2 111881057 . G . . NT END=111881309;NT GT ./. 2 111881263 . AT A 14 idl,rn VT=DEL;SST=Single;DP=57;NP=8;Gene=BCL2L11/NM_207002.3/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204113.1/1;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204106.1/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204107.1/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204108.1/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204109.1/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204111.1/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_138621.4/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_138622.3/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_138623.3/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_138624.3/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_138625.3/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_138626.3/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.-13-36delT;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.-13-36delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:AT,C,I,A:57:43:6:6:43,2,6,6:1386,32,179,195:0.00,0.82,12.83,14.42:0.00,0.72,10.71,6.80:0.00,0.11,2.13,7.62:0.00,0.00,0.00,0.83:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.87:60,60,60,60:18.5,79.5,41.7,1.8:0,0,0,0:0,0,0,0:58,39,68,68:80,111,78,80:38,10,16,49:-,NM_001204106.1(BCL2L11) c.-13-46delT:-,NOT_FOUND:-,NOT_FOUND 2 111881717 . G . . NT END=111899889;NT GT ./. 2 111899973 . A . . NT END=111902064;NT GT ./. 2 111902098 . G . . NT END=111903525;NT GT ./. 2 111903497 . CT C 8 idl,rn VT=DEL;SST=Single;DP=25;NP=1;PC=0.003;Gene=BCL2L11/NM_001204113.1/1;CC=c.*30-9delT;VC=Intron;Gene=BCL2L11/NM_001204106.1/0;CC=c.125-4104delT;VC=Intron;Gene=BCL2L11/NM_001204107.1/0;CC=c.125-4104delT;VC=Intron;Gene=BCL2L11/NM_001204108.1/0;CC=c.395-4104delT;VC=Intron;Gene=BCL2L11/NM_001204109.1/0;CC=c.395-7840delT;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.125-4104delT;VC=Intron;Gene=BCL2L11/NM_001204111.1/0;CC=c.215-18193delT;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.215-7840delT;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.215-4104delT;VC=Intron;Gene=BCL2L11/NM_138621.4/0;CC=c.395-4104delT;VC=Intron;Gene=BCL2L11/NM_138622.3/0;CC=c.395-4104delT;VC=Intron;Gene=BCL2L11/NM_138623.3/0;CC=c.215-4104delT;VC=Intron;Gene=BCL2L11/NM_138624.3/0;CC=c.*19+1420delT;VC=Intron;Gene=BCL2L11/NM_138625.3/0;CC=c.*13-4104delT;VC=Intron;Gene=BCL2L11/NM_138626.3/0;CC=c.395-18193delT;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.125-18193delT;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.125-4104delT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CT,T,I,C:20:22:1:8:15,1,1,3:478,10,33,260:0.00,0.04,2.12,7.64:0.00,-0.24,0.95,4.96:0.00,0.28,1.16,2.67:0.00,0.00,0.00,0.46:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.55:60,60,60,60:31.2,48.0,34.0,114.3:0,1,0,5:0,0,0,0:101,45,92,26:31,77,45,125:34,0,0,10:-,NM_001204106.1(BCL2L11) c.125-4123delT:-,NOT_FOUND:-,NOT_FOUND 2 111903832 rs11674517 C T 109 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.654,T/0.346;PC=0.056;Gene=BCL2L11/NM_001204113.1/1;CC=c.*336C>T;VC=3UTR;Gene=BCL2L11/NM_001204106.1/0;CC=c.125-3789C>T;VC=Intron;Gene=BCL2L11/NM_001204107.1/0;CC=c.125-3789C>T;VC=Intron;Gene=BCL2L11/NM_001204108.1/0;CC=c.395-3789C>T;VC=Intron;Gene=BCL2L11/NM_001204109.1/0;CC=c.395-7525C>T;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.125-3789C>T;VC=Intron;Gene=BCL2L11/NM_001204111.1/0;CC=c.215-17878C>T;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.215-7525C>T;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.215-3789C>T;VC=Intron;Gene=BCL2L11/NM_138621.4/0;CC=c.395-3789C>T;VC=Intron;Gene=BCL2L11/NM_138622.3/0;CC=c.395-3789C>T;VC=Intron;Gene=BCL2L11/NM_138623.3/0;CC=c.215-3789C>T;VC=Intron;Gene=BCL2L11/NM_138624.3/0;CC=c.*19+1735C>T;VC=Intron;Gene=BCL2L11/NM_138625.3/0;CC=c.*13-3789C>T;VC=Intron;Gene=BCL2L11/NM_138626.3/0;CC=c.395-17878C>T;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.125-17878C>T;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.125-3789C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:23:0:0:26,34:773,1103:0.00,108.75:0.00,25.14:0.00,83.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,34.7:0,0:0,0:89,91:55,54:43,25:-,NM_001204113.1(BCL2L11) c.*336C>T:-,0.39:-,NOT_FOUND 2 111903862 . C . . NT END=111907620;NT GT ./. 2 111907691 rs724710 T C 84 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.3075,C/0.6925;PC=0.093;Gene=BCL2L11/NM_001204106.1/0;CC=c.195T>C;ProtCh=p.I65=;VC=Silent;Gene=BCL2L11/NM_001204107.1/0;CC=c.195T>C;ProtCh=p.I65=;VC=Silent;Gene=BCL2L11/NM_001204108.1/0;CC=c.465T>C;ProtCh=p.I155=;VC=Silent;Gene=BCL2L11/NM_001204109.1/0;CC=c.395-3666T>C;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.195T>C;ProtCh=p.I65=;VC=Silent;Gene=BCL2L11/NM_001204111.1/0;CC=c.215-14019T>C;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.215-3666T>C;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.285T>C;ProtCh=p.I95=;VC=Silent;Gene=BCL2L11/NM_138621.4/0;CC=c.465T>C;ProtCh=p.I155=;VC=Silent;Gene=BCL2L11/NM_138622.3/0;CC=c.465T>C;ProtCh=p.I155=;VC=Silent;Gene=BCL2L11/NM_138623.3/0;CC=c.285T>C;ProtCh=p.I95=;VC=Silent;Gene=BCL2L11/NM_138624.3/0;CC=c.*90T>C;VC=3UTR;Gene=BCL2L11/NM_138625.3/0;CC=c.*83T>C;VC=3UTR;Gene=BCL2L11/NM_138626.3/0;CC=c.395-14019T>C;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.125-14019T>C;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.195T>C;ProtCh=p.I65=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:41:0:0:29,40:906,1286:84.06,0.00:34.31,0.00:49.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,10.9:0,0:0,0:85,80:63,66:30,25:NM_001204106.1(BCL2L11) c.195T>C (p.(=)),-:0.73,-:0.711672,- 2 111907848 . T . . NT END=111909398;NT GT ./. 2 111909471 . G . . NT END=111911356;NT GT ./. 2 111911482 . G . . NT END=111918995;NT GT ./. 2 111919128 . G . . NT END=111921709;NT GT ./. 2 111919346 rs686952 A C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.2432,C/0.7568;Gene=BCL2L11/NM_001204106.1/0;CC=c.229-2364A>C;VC=Intron;Gene=BCL2L11/NM_001204107.1/0;CC=c.*168-2364A>C;VC=Intron;Gene=BCL2L11/NM_001204108.1/0;CC=c.*111+219A>C;VC=Intron;Gene=BCL2L11/NM_001204109.1/0;CC=c.*97-2364A>C;VC=Intron;Gene=BCL2L11/NM_001204110.1/0;CC=c.*111+219A>C;VC=Intron;Gene=BCL2L11/NM_001204111.1/0;CC=c.215-2364A>C;VC=Intron;Gene=BCL2L11/NM_001204112.1/0;CC=c.*97-2364A>C;VC=Intron;Gene=BCL2L11/NM_006538.4/0;CC=c.319-2364A>C;VC=Intron;Gene=BCL2L11/NM_138621.4/0;CC=c.499-2364A>C;VC=Intron;Gene=BCL2L11/NM_138622.3/0;CC=c.*114-2364A>C;VC=Intron;Gene=BCL2L11/NM_138623.3/0;CC=c.*114-2364A>C;VC=Intron;Gene=BCL2L11/NM_138624.3/0;CC=c.*124-2364A>C;VC=Intron;Gene=BCL2L11/NM_138625.3/0;CC=c.*117-2364A>C;VC=Intron;Gene=BCL2L11/NM_138626.3/0;CC=c.395-2364A>C;VC=Intron;Gene=BCL2L11/NM_138627.3/0;CC=c.125-2364A>C;VC=Intron;Gene=BCL2L11/NM_207003.2/0;CC=c.*114-2364A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:230:26.34:0.00:26.34:1.00:0.00:1.00:60:34.4:0:0:112:39:25:NM_001204106.1(BCL2L11) c.229-2364A>C,NM_001204106.1(BCL2L11) c.229-2364A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 111921809 . C . . NT END=112526891;NT GT ./. 2 112141350 rs200296231 T C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1743;PC=0.998;Gene=MIR4435-2HG/NR_015395.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:13:0:0:8,7:264,213:25.73,0.00:22.99,0.00:2.74,0.00:1.00,0.00:1.00,0.00:0.95,0.00:43,53:43.1,8.9:0,0:0,0:53,58:96,91:18,34:NR_015395.1(LOC541471) n.232-16198A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 112141480 rs62163544 A G 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7294,G/0.2706;PC=1.000;Gene=MIR4435-2HG/NR_015395.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:15:0:0:9,12:302,385:0.00,37.98:0.00,23.05:0.00,14.94:0.00,1.00:0.00,1.00:0.00,1.00:60,55:0.0,37.8:0,0:0,0:58,54:92,96:32,39:-,NR_015395.1(LOC541471) n.232-16328T>C:-,0.27:-,NOT_FOUND 2 112141772 rs78236988 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2956;PC=0.998;Gene=MIR4435-2HG/NR_015395.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:10:0:0:11,9:370,290:0.00,27.32:0.00,8.52:0.00,18.79:0.00,1.00:0.00,0.99:0.00,1.00:60,42:7.8,63.8:0,0:0,0:96,104:55,46:25,34:-,NR_015395.1(LOC541471) n.232-16620G>A:-,NOT_FOUND:-,NOT_FOUND 2 112141781 rs62163546 T G 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.7408,G/0.2592;NP=1551;PC=1.000;Gene=MIR4435-2HG/NR_015395.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:9:0:0:8,11:247,357:22.90,0.00:6.38,0.00:16.52,0.00:0.99,0.00:0.99,0.00:1.00,0.00:42,60:67.4,7.8:0,0:0,0:53,105:95,46:32,25:NR_015395.1(LOC541471) n.232-16629A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 112142072 rs372515880 G A 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.73,A/0.27;NP=1201;PC=1.000;Gene=MIR4435-2HG/NR_015395.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:32:0:0:14,24:469,778:42.73,0.00:37.43,0.00:5.30,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,50:37.5,11.4:0,0:0,0:89,34:61,117:34,14:NR_015395.1(LOC541471) n.232-16920C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 112173008 . GGT G 8 rn VT=DEL;SST=Single;DP=7;NP=108;Gene=MIR4435-2HG/NR_015395.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:GGT,G:6:5:0:4:3,3:101,113:0.00,8.20:0.00,2.17:0.00,6.02:0.00,0.69:0.00,0.93:0.00,0.95:60,40:0.0,42.0:0,1:0,0:116,56:35,94:2,11:-,NR_015395.1(LOC541471) n.232-47858_232-47857delAC:-,NOT_FOUND:-,NOT_FOUND 2 112226793 rs59813069 A ATGTGTGTGTG 17 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=22;NP=6;NP=8;PC=0.024;Gene=MIR4435-2HG/NR_015395.1/0;VC=NonCoding;Gene=MIR4435-2HG/NR_024373.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,ATGTGTGTGTG:6:6:7:0:1,5:34,229:0.00,17.24:0.00,14.04:0.00,3.20:0.00,0.97:0.00,1.00:0.00,1.00:39,60:0.0,26.6:0,2:0,0:111,67:28,73:0,32:-,NR_015395.1(LOC541471) n.231+25668_231+25669insCACACACACA:-,NOT_FOUND:-,NOT_FOUND 2 112526984 . C . . NT END=112529917;NT GT ./. 2 112530053 . C . . NT END=112534435;NT GT ./. 2 112534635 . C . . NT END=112536251;NT GT ./. 2 112536264 rs939797 G T 52 lc VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3449;PC=0.991;Gene=ANAPC1/NM_022662.3/1;CC=c.5373C>A;ProtCh=p.I1791=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:450:51.66:49.62:2.04:1.00:1.00:1.00:49:37.1:0:0:40:111:37:NM_022662.3(ANAPC1) c.=,NM_022662.3(ANAPC1) c.=:NOT_FOUND,NOT_FOUND:0.997217,0.997217 2 112536348 . C . . NT END=112537875;NT GT ./. 2 112537963 . C . . NT END=112539945;NT GT ./. 2 112540085 . C . . NT END=112541473;NT GT ./. 2 112541542 . C . . NT END=112541899;NT GT ./. 2 112541814 rs62164158 T A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=469;Gene=ANAPC1/NM_022662.3/1;CC=c.4995+86A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,T:30:27:0:0:5,25:165,868:13.02,0.00:13.33,0.00:-0.32,0.00:0.98,0.00:0.97,0.00:0.59,0.00:40,51:33.0,1.0:0,0:0,0:24,54:126,96:20,42:NM_022662.3(ANAPC1) c.4995+86A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 112541978 . C . . NT END=112542936;NT GT ./. 2 112542127 rs139258833 T C 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8948,C/0.1052;PC=0.001;Gene=ANAPC1/NM_022662.3/1;CC=c.4918-150A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:9:0:0:0:5,4:157,92:15.44,0.00:0.00,0.00:15.44,0.00:0.96,0.00:0.00,0.00:0.96,0.00:42,43:55.6,20.8:0,0:0,0:76,86:75,64:31,44:NM_022662.3(ANAPC1) c.4918-150A>G,-:0.1,-:NOT_FOUND,- 2 112543055 . C . . NT END=112545810;NT GT ./. 2 112545898 . C . . NT END=112549938;NT GT ./. 2 112549789 rs375968322 A C 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.8942,C/0.1058;NP=66;Gene=ANAPC1/NM_022662.3/1;CC=c.4712+150T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,C:10:10:0:0:6,4:181,127:0.00,11.68:0.00,11.68:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:54,50:32.2,45.5:0,0:0,0:121,103:28,47:25,15:-,NM_022662.3(ANAPC1) c.4712+150T>G:-,NOT_FOUND:-,NOT_FOUND 2 112550133 . C . . NT END=112551654;NT GT ./. 2 112551709 . C . . NT END=112551809;NT GT ./. 2 112551772 . CA C 10 rn VT=DEL;SST=Single;DP=62;NP=33;Gene=ANAPC1/NM_022662.3/1;CC=c.4464+37delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,CA,I,C:62:35:1:5:1,55,1,5:9,1791,23,155:-0.27,0.00,0.64,10.42:-0.19,0.00,0.84,0.42:-0.08,0.00,-0.20,10.00:0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.90:58,56,57,44:44.0,5.3,32.0,0.0:0,0,0,0:0,0,0,0:34,72,4,99:97,79,146,52:0,37,0,28:-,NM_022662.3(ANAPC1) c.4464+37delT:-,NOT_FOUND:-,0.018593 2 112551901 . C . . NT END=112552394;NT GT ./. 2 112552472 . C . . NT END=112558373;NT GT ./. 2 112558449 . C . . NT END=112560004;NT GT ./. 2 112560084 . C . . NT END=112561024;NT GT ./. 2 112561108 . C . . NT END=112561281;NT GT ./. 2 112561417 . C . . NT END=112563378;NT GT ./. 2 112563471 . C . . NT END=112566523;NT GT ./. 2 112566759 . C . . NT END=112572946;NT GT ./. 2 112566863 rs200139888 C T 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=44;Gene=ANAPC1/NM_022662.3/1;CC=c.3598-105G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:0:0:0:9,20:262,594:0.00,61.11:0.00,0.00:0.00,61.11:0.00,1.00:0.00,0.00:0.00,1.00:27,24:11.1,43.2:0,0:0,0:118,101:32,49:13,40:-,NM_022662.3(ANAPC1) c.3598-105G>A:-,NOT_FOUND:-,NOT_FOUND 2 112573219 . C . . NT END=112576416;NT GT ./. 2 112576536 . C . . NT END=112576620;NT GT ./. 2 112576799 rs144901258 C A 80 lc VT=SNV;PN=C;NN=A;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=59;PC=0.001;Gene=ANAPC1/NM_022662.3/1;CC=c.3207-264G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:127:83:0:0:30,97:956,2967:79.79,0.00:61.97,0.00:17.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:36,60:38.5,11.6:0,0:0,0:57,85:94,61:29,28:NM_022662.3(ANAPC1) c.3207-264G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 112577000 . C . . NT END=112578815;NT GT ./. 2 112579031 . C . . NT END=112579998;NT GT ./. 2 112580178 . C . . NT END=112582542;NT GT ./. 2 112582523 rs74602614 G A 89 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.7368,A/0.2632;PC=0.003;Gene=ANAPC1/NM_022662.3/1;CC=c.2812+20C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:40:0:0:27,19:894,612:88.75,0.00:70.95,0.00:17.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,0.8:0,0:0,0:41,64:108,87:25,35:NM_022662.3(ANAPC1) c.2812+20C>T,-:0.28,-:0.278718,- 2 112582614 . C . . NT END=112582707;NT GT ./. 2 112582745 . C . . NT END=112583353;NT GT ./. 2 112583433 . C . . NT END=112588862;NT GT ./. 2 112583594 rs10190026 T C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4115,C/0.5885;Gene=ANAPC1/NM_022662.3/1;CC=c.2626-162A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:19:0:0:0:6,13:204,392:18.12,0.00:0.00,0.00:18.12,0.00:0.94,0.00:0.00,0.00:0.94,0.00:57,60:44.7,11.5:0,0:0,0:109,117:42,34:36,26:NM_022662.3(ANAPC1) c.2626-162A>G,-:0.59,-:NOT_FOUND,- 2 112588751 rs7587482 C T 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.4367,T/0.5633;Gene=ANAPC1/NM_022662.3/1;CC=c.2625+112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:34:0:0:18,18:500,601:0.00,57.89:0.00,52.93:0.00,4.96:0.00,1.00:0.00,1.00:0.00,0.51:60,55:16.1,34.5:0,0:0,0:27,32:119,117:23,28:-,NM_022662.3(ANAPC1) c.2625+112G>A:-,0.55:-,NOT_FOUND 2 112589012 . C . . NT END=112590796;NT GT ./. 2 112590889 . C . . NT END=112592180;NT GT ./. 2 112590989 rs3761697 A T 118 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.4119,T/0.5881;Gene=ANAPC1/NM_022662.3/1;CC=c.2385-101T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:54:22:0:0:19,35:615,1169:0.00,118.39:0.00,33.26:0.00,85.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,46.8:0,0:0,0:85,81:66,69:32,32:-,NM_022662.3(ANAPC1) c.2385-101T>A:-,0.59:-,NOT_FOUND 2 112591057 rs72531619 CA C 82 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=CA/0.8952,C/0.1048;NP=119;Gene=ANAPC1/NM_022662.3/1;CC=c.2385-170delT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:47:25:0:26:21,26:697,838:0.00,82.18:0.00,22.72:0.00,59.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,27.8:0,0:0,0:57,90:94,59:37,29:-,NM_022662.3(ANAPC1) c.2385-170delT:-,0.1:-,NOT_FOUND 2 112592010 rs11691579 C A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4411,A/0.5589;Gene=ANAPC1/NM_022662.3/1;CC=c.2384+171G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:19:0:0:9,10:285,331:27.08,0.00:27.08,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:55,60:53.2,7.4:0,0:0,0:80,37:69,113:48,13:NM_022662.3(ANAPC1) c.2384+171G>T,-:0.52,-:NOT_FOUND,- 2 112592450 . C . . NT END=112596014;NT GT ./. 2 112596090 . C . . NT END=112600988;NT GT ./. 2 112601177 . C . . NT END=112604714;NT GT ./. 2 112604776 . C . . NT END=112605301;NT GT ./. 2 112605302 rs4848197 C T 50 lc VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.4375,T/0.5625;PC=0.967;Gene=ANAPC1/NM_022662.3/1;CC=c.1791G>A;ProtCh=p.L597=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:31:0:0:26,16:845,542:0.00,49.71:0.00,36.80:0.00,12.92:0.00,1.00:0.00,1.00:0.00,1.00:60,41:9.0,36.3:0,0:0,0:63,57:81,93:20,14:-,NM_022662.3(ANAPC1) c.1791G>A (p.(=)):-,0.47:-,NOT_FOUND 2 112605443 . C . . NT END=112608352;NT GT ./. 2 112605465 rs4848800 T C 127 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.004593,A/.,C/0.9954;NP=3478;PC=0.001;Gene=ANAPC1/NM_022662.3/1;CC=c.1651-23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:14:0:0:34:1113:127.46:33.45:94.01:1.00:1.00:1.00:60:38.7:0:0:90:53:26:NM_022662.3(ANAPC1) c.1651-23A>G,NM_022662.3(ANAPC1) c.1651-23A>G:1,1:0.99623,0.99623 2 112608488 . C . . NT END=112614190;NT GT ./. 2 112613915 rs577073779 TA T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TA/0.4255,T/0.5745;DB;DBA=NA;PAF=TA/0.4255,T/0.5745;DB;DBA=NA;PAF=TA/0.4255,T/0.5745;NP=52;Gene=ANAPC1/NM_022662.3/1;CC=c.1515+275delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:TA,I,T:5:5:1:3:1,1,3:32,31,94:0.00,2.78,9.77:0.00,2.78,9.77:0.00,0.00,0.00:0.00,0.00,0.78:0.00,0.00,0.78:0.00,0.00,0.00:50,60,60:0.0,0.0,35.3:0,0,0:0,0,0:6,17,85:145,134,65:0,0,1:-,NM_022662.3(ANAPC1) c.1515+275delT:-,NOT_FOUND:-,NOT_FOUND 2 112614257 . C . . NT END=112614372;NT GT ./. 2 112614429 rs72936240 G A 15 lc VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=2528;PC=1.000;Gene=ANAPC1/NM_022662.3/1;CC=c.1393C>T;ProtCh=p.Q465*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:55:28:0:0:6,49:208,1519:15.44,0.00:8.22,0.00:7.22,0.00:0.83,0.00:0.90,0.00:0.98,0.00:49,56:45.0,3.2:0,0:0,0:57,84:47,65:11,27:NM_022662.3(ANAPC1) c.1393C>T (p.Gln465*),-:NOT_FOUND,-:NOT_FOUND,- 2 112614464 . c . . NT END=112615882;NT GT ./. 2 112614585 rs4019131 T A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4351,A/0.5649;PC=0.009;Gene=ANAPC1/NM_022662.3/1;CC=c.1359-122A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,T:9:0:0:0:4,5:128,161:12.02,0.00:0.00,0.00:12.02,0.00:0.85,0.00:0.00,0.00:0.85,0.00:51,60:118.2,0.0:0,0:0,0:34,73:115,77:17,16:NM_022662.3(ANAPC1) c.1359-122A>T,-:0.52,-:NOT_FOUND,- 2 112614589 rs7567364 A C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4349,C/0.5651;Gene=ANAPC1/NM_022662.3/1;CC=c.1359-126T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,C:9:0:0:0:5,4:142,135:0.00,12.74:0.00,0.00:0.00,12.74:0.00,0.85:0.00,0.00:0.00,0.85:60,51:0.0,118.2:0,0:0,0:77,38:73,111:16,17:-,NM_022662.3(ANAPC1) c.1359-126T>G:-,0.48:-,NOT_FOUND 2 112614598 rs7570210 T C 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4489,C/0.5511;PC=0.372;Gene=ANAPC1/NM_022662.3/1;CC=c.1359-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:9:0:0:0:4,5:93,164:8.45,0.00:0.00,0.00:8.45,0.00:0.85,0.00:0.00,0.00:0.85,0.00:51,60:118.2,0.0:0,0:0,0:47,86:102,64:17,16:NM_022662.3(ANAPC1) c.1359-135A>G,-:0.47,-:NOT_FOUND,- 2 112614645 rs7570221 T C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ANAPC1/NM_022662.3/1;CC=c.1359-182A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:6:0:0:0:3,3:97,98:9.32,0.00:0.00,0.00:9.32,0.00:0.73,0.00:0.00,0.00:0.73,0.00:40,55:132.3,0.0:0,0:0,0:77,124:72,27:0,7:NM_022662.3(ANAPC1) c.1359-182A>G,-:0.51,-:NOT_FOUND,- 2 112615979 . C . . NT END=112619965;NT GT ./. 2 112616059 rs183990854 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.059;Gene=ANAPC1/NM_022662.3/1;CC=c.1263-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:0:0:0:7,6:192,203:0.00,19.31:0.00,0.00:0.00,19.31:0.00,0.97:0.00,0.00:0.00,0.97:48,48:0.0,38.0:0,0:0,0:109,126:42,23:35,21:-,NM_022662.3(ANAPC1) c.1263-81G>A:-,0.09:-,NOT_FOUND 2 112619981 rs201128090 G A 26 sb,lc VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.983;Gene=ANAPC1/NM_022662.3/1;CC=c.1247C>T;ProtCh=p.T416M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:51:0:0:11,53:336,1649:26.12,0.00:26.49,0.00:-0.37,0.00:0.99,0.00:1.00,0.00:0.98,0.00:41,53:44.9,2.9:0,0:0,0:24,51:127,95:23,26:NM_022662.3(ANAPC1) c.1247C>T (p.Thr416Met),-:NOT_FOUND,-:NOT_FOUND,- 2 112620176 . C . . NT END=112621251;NT GT ./. 2 112620929 . CA C,CAA 10 idl;end,nt VT=INS;SST=Single;DP=4;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:26:CAA,C:4:4:3:1:3,1:94,32:10.46,3.08:10.46,3.08:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,49:9.3,36.0:0,0:0,0:47,7:102,143:31,0:NM_022662.3(ANAPC1) c.1052+322delT,NM_022662.3(ANAPC1) c.1052+322dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 112621036 rs2887052 T C 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4365,C/0.5635;Gene=ANAPC1/NM_022662.3/1;CC=c.1052+216A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:C,T:5:5:0:0:3,2:93,50:9.27,0.00:9.27,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:58,60:61.3,24.0:0,0:0,0:93,94:57,51:20,29:NM_022662.3(ANAPC1) c.1052+216A>G,-:0.56,-:NOT_FOUND,- 2 112621083 rs11682193 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4365,T/0.5635;Gene=ANAPC1/NM_022662.3/1;CC=c.1052+169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,T:8:8:0:0:3,5:73,149:0.00,15.00:0.00,15.00:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:14.0,71.6:0,0:0,0:25,46:125,104:16,23:-,NM_022662.3(ANAPC1) c.1052+169G>A:-,0.55:-,NOT_FOUND 2 112621109 rs201538940 A T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ANAPC1/NM_022662.3/1;CC=c.1052+143T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,T:8:8:0:0:3,5:89,132:0.00,13.23:0.00,13.23:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:14.0,54.6:0,0:0,0:51,47:99,103:16,22:-,NM_022662.3(ANAPC1) c.1052+143T>A:-,NOT_FOUND:-,NOT_FOUND 2 112621473 . C . . NT END=112622382;NT GT ./. 2 112621498 rs70962959 GA G 85 idl,rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=522;Gene=ANAPC1/NM_022662.3/1;CC=c.832-27delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:53:21:2:30:1,22,2,28:33,641,42,931:1.86,0.00,2.10,85.18:-0.04,0.00,0.34,25.39:1.90,0.00,1.76,59.80:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:50,60,56,58:101.0,18.0,69.0,33.9:1,0,0,2:0,0,0,0:95,104,122,100:56,46,27,44:0,18,1,25:-,NM_022662.3(ANAPC1) c.832-27delT:-,NOT_FOUND:-,NOT_FOUND 2 112622241 rs13430062 G A 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4365,A/0.5635;PC=0.110;Gene=ANAPC1/NM_022662.3/1;CC=c.831+142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:10,13:294,423:27.34,0.00:27.34,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:55,55:56.4,7.1:0,0:0,0:53,20:98,131:26,12:NM_022662.3(ANAPC1) c.831+142C>T,-:0.53,-:NOT_FOUND,- 2 112622529 . C . . NT END=112625599;NT GT ./. 2 112622642 rs80200688 C T 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.6284,T/0.3716;PC=0.001;Gene=ANAPC1/NM_022662.3/1;CC=c.686-114G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:4:0:0:20,10:597,336:0.00,30.10:0.00,2.34:0.00,27.76:0.00,1.00:0.00,0.81:0.00,1.00:60,49:13.4,107.7:0,0:0,0:107,113:44,37:35,17:-,NM_022662.3(ANAPC1) c.686-114G>A:-,0.32:-,NOT_FOUND 2 112622643 rs71414605 A G 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.4365,G/0.5635;NP=906;PC=0.026;Gene=ANAPC1/NM_022662.3/1;CC=c.686-115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:3:0:0:20,10:616,335:0.00,29.98:0.00,3.32:0.00,26.65:0.00,1.00:0.00,0.73:0.00,1.00:60,49:13.4,107.7:0,0:0,0:95,114:55,36:38,17:-,NM_022662.3(ANAPC1) c.686-115T>C:-,NOT_FOUND:-,NOT_FOUND 2 112622650 rs56711676 T C 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.3157,C/0.6843;Gene=ANAPC1/NM_022662.3/1;CC=c.686-122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:2:0:0:10,19:349,597:31.56,0.00:3.52,0.00:28.04,0.00:1.00,0.00:0.64,0.00:1.00,0.00:49,60:107.7,14.2:0,0:0,0:121,94:29,56:17,40:NM_022662.3(ANAPC1) c.686-122A>G,-:0.65,-:NOT_FOUND,- 2 112625555 . CA C 8 rn VT=DEL;SST=Single;DP=19;NP=32;PC=0.871;Gene=ANAPC1/NM_022662.3/1;CC=c.685+44delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CA,I,C:19:16:1:3:15,1,3:400,30,99:0.00,1.85,7.81:0.00,-0.27,3.61:0.00,2.12,4.20:0.00,0.00,0.51:0.00,0.00,0.88:0.00,0.00,0.73:60,60,60:33.0,0.0,22.0:0,0,0:0,0,0:38,44,46:112,107,105:8,0,11:-,NM_022662.3(ANAPC1) c.685+44delT:-,NOT_FOUND:-,NOT_FOUND 2 112625575 rs6742515 T C 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.4369,C/0.5631,G/.;PC=0.001;Gene=ANAPC1/NM_022662.3/1;CC=c.685+25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:24:0:0:13,14:397,455:37.76,0.00:22.78,0.00:14.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,13.8:0,0:0,0:48,48:103,102:22,23:NM_022662.3(ANAPC1) c.685+25A>G,-:0.57,-:0.580462,- 2 112625674 . C . . NT END=112630206;NT GT ./. 2 112630290 . C . . NT END=112630884;NT GT ./. 2 112630412 rs141064868 A C 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ANAPC1/NM_022662.3/1;CC=c.529-123T>G;VC=Intron;DM=ANAPC1/ANAPC1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,C:7:0:0:0:3,4:101,121:0.00,11.93:0.00,0.00:0.00,11.93:0.00,0.90:0.00,0.00:0.00,0.90:42,42:0.0,39.8:0,0:0,0:57,117:94,33:33,12:-,NM_022662.3(ANAPC1) c.529-123T>G:-,0.52:-,NOT_FOUND 2 112630986 . C . . NT END=112631189;NT GT ./. 2 112631242 . C . . NT END=112636386;NT GT ./. 2 112636549 . C . . NT END=112638069;NT GT ./. 2 112636685 rs10175926 G A 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4389,A/0.5611;Gene=ANAPC1/NM_022662.3/1;CC=c.214-137C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:0:0:0:12,11:374,334:36.20,0.00:0.00,0.00:36.20,0.00:1.00,0.00:0.00,0.00:1.00,0.00:51,60:56.3,16.2:0,0:0,0:94,93:55,57:33,34:NM_022662.3(ANAPC1) c.214-137C>T,-:0.54,-:NOT_FOUND,- 2 112636761 rs10167739 T C 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4387,C/0.5613;PC=0.023;Gene=ANAPC1/NM_022662.3/1;CC=c.214-213A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:C,T:9:0:0:0:4,5:132,154:12.42,0.00:0.00,0.00:12.42,0.00:0.85,0.00:0.00,0.00:0.85,0.00:44,60:98.8,10.0:0,0:0,0:119,135:32,16:8,11:NM_022662.3(ANAPC1) c.214-213A>G,-:0.54,-:NOT_FOUND,- 2 112638184 . T . . NT END=112638189;NT GT ./. 2 112638427 . C . . NT END=112656312;NT GT ./. 2 112638517 rs4132166 G C 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4311,C/0.5689;PC=0.006;Gene=ANAPC1/NM_022662.3/1;CC=c.-24-91C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:0:0:0:10,9:275,258:26.49,0.00:0.00,0.00:26.49,0.00:1.00,0.00:0.00,0.00:1.00,0.00:51,60:37.8,8.4:0,0:0,0:73,98:77,53:36,43:NM_022662.3(ANAPC1) c.-24-91C>G,-:0.57,-:NOT_FOUND,- 2 112646016 rs4848835 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6721,T/0.3279;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:7:6:0:0:3,4:100,136:0.00,13.43:0.00,9.80:0.00,3.63:0.00,0.90:0.00,0.99:0.00,0.71:60,60:66.0,42.2:0,0:0,0:72,53:79,95:50,2:-,NM_022662.3(ANAPC1) c.-247-u4275G>A:-,0.3:-,NOT_FOUND 2 112646524 rs12711665 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4605,C/0.5395;PC=0.563 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:6:1:0:0:4,2:120,67:12.25,0.00:-0.48,0.00:12.73,0.00:0.93,0.00:0.78,0.00:0.99,0.00:60,60:51.5,9.5:0,0:0,0:103,50:47,100:45,29:NM_022662.3(ANAPC1) c.-247-u4783A>G,-:0.47,-:NOT_FOUND,- 2 112646590 rs13025891 T C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4607,C/0.5393;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:4:1:0:0:2,2:70,62:6.75,0.00:-0.30,0.00:7.05,0.00:0.51,0.00:0.67,0.00:0.89,0.00:60,60:73.0,9.5:0,0:0,0:124,116:26,34:2,29:NM_022662.3(ANAPC1) c.-247-u4849A>G,-:0.47,-:NOT_FOUND,- 2 112656374 . G . . NT END=112670590;NT GT ./. 2 112670609 . G . . NT END=112686696;NT GT ./. 2 112670732 rs58641606 T C 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.7598,C/0.2402;PC=0.053;Gene=MERTK/NM_006343.2/1;CC=c.61+14359T>C;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:8:0:0:18:555:63.99:22.56:41.43:1.00:1.00:1.00:60:41.4:0:0:123:28:19:NM_006343.2(MERTK) c.61+14359T>C,NM_006343.2(MERTK) c.61+14359T>C:0.22,0.22:NOT_FOUND,NOT_FOUND 2 112687118 . G . . NT END=112702536;NT GT ./. 2 112687157 rs70962966 A ATATTTATTTATT 141 nt VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=8;Gene=MERTK/NM_006343.2/1;CC=c.482+58_482+59insTTTATTTATTTA;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/ig;DM=MERTK/fn3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,ATATTTATTTATT:61:24:44:0:15,2,44:447,21,1350:0.00,0.38,141.45:0.00,0.53,33.07:0.00,-0.15,108.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:10.9,44.5,7.5:0,0,0:0,0,0:137,110,96:9,34,54:6,9,20:-,NM_006343.2(MERTK) c.482+40_482+41insTATTTATTTATT:-,NOT_FOUND:-,0.285481 2 112687330 rs72180817 ATTTTTTTTT A 17 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=ATTTTTTTTT/0.5142,A/0.4858;NP=229;Gene=MERTK/NM_006343.2/1;CC=c.482+224_482+232delTTTTTTTTT;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/ig;DM=MERTK/fn3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:ATTTTTTTTT,A:7:0:0:6:2,5:65,194:0.00,16.61:0.00,0.00:0.00,16.61:0.00,0.97:0.00,0.00:0.00,0.97:60,60:95.0,4.8:0,1:0,0:140,112:3,38:2,7:-,NM_006343.2(MERTK) c.482+214_482+222delTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 2 112693215 . CGTGTGTGT C 10 rn VT=DEL;SST=Single;DP=5;NP=6;Gene=MERTK/NM_006343.2/1;CC=c.482+6139_482+6146delGTGTGTGT;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/ig;DM=MERTK/fn3;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CGTGTGTGT,C:5:5:0:3:2,3:70,97:0.00,9.67:0.00,6.41:0.00,3.26:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,6.0:0,0:0,0:83,75:34,75:25,20:-,NM_006343.2(MERTK) c.482+6099_482+6106delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 112693321 rs1516638 A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02436,G/0.9756;PC=0.007;Gene=MERTK/NM_006343.2/1;CC=c.482+6204A>G;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/ig;DM=MERTK/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:4:1:0:0:1,3:13,78:0.00,8.24:0.00,1.83:0.00,6.41:0.00,0.85:0.00,0.83:0.00,0.85:60,60:36.0,57.0:0,0:0,0:2,57:149,93:0,52:-,NM_006343.2(MERTK) c.482+6204A>G:-,0.98:-,NOT_FOUND 2 112702638 . G . . NT END=112704970;NT GT ./. 2 112704855 . G C 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;PC=0.008;Gene=MERTK/NM_006343.2/1;CC=c.584-116G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:C,G:12:9:0:0:5,7:82,218:6.97,0.00:7.67,0.00:-0.70,0.00:0.92,0.00:0.98,0.00:0.82,0.00:60,60:102.4,33.0:0,0:0,0:106,2:7,148:19,2:NM_006343.2(MERTK) c.584-116G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 112704862 rs7601798 A C,G 42 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.501,G/0.499 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:C,G:14:11:0:0:2,12:54,367:4.67,41.61:4.67,28.08:0.00,13.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:211.5,36.4:0,0:0,0:40,6:110,144:26,2:NM_006343.2(MERTK) c.584-109A>C,NM_006343.2(MERTK) c.584-109A>G:NOT_FOUND,0.45:NOT_FOUND,NOT_FOUND 2 112705145 . G . . NT END=112722767;NT GT ./. 2 112705157 rs3761701 T C 218 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.4852,C/0.5148;Gene=MERTK/NM_006343.2/1;CC=c.757+13T>C;VC=Intron;DM=MERTK/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:C:63:18:0:0:63:1881:217.80:46.91:170.89:1.00:1.00:1.00:60:65.0:0:0:87:64:28:NM_006343.2(MERTK) c.757+13T>C,NM_006343.2(MERTK) c.757+13T>C:0.48,0.48:0.584653,0.584653 2 112705185 rs3761700 G T 213 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.508,T/0.492;Gene=MERTK/NM_006343.2/1;CC=c.757+41G>T;VC=Intron;DM=MERTK/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:T:58:17:0:0:58:1855:213.06:38.72:174.34:1.00:1.00:1.00:60:66.4:0:0:95:55:31:NM_006343.2(MERTK) c.757+41G>T,NM_006343.2(MERTK) c.757+41G>T:0.44,0.44:0.532169,0.532169 2 112722490 rs6541971 A G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4383,G/0.5617;Gene=MERTK/NM_006343.2/1;CC=c.758-278A>G;VC=Intron;DM=MERTK/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:42.5:0:0:33:117:14:NM_006343.2(MERTK) c.758-278A>G,NM_006343.2(MERTK) c.758-278A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 112722855 . G . . NT END=112725713;NT GT ./. 2 112725684 rs75918730 A ATGTGTG 108 idl,nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=32;PC=0.468;Gene=MERTK/NM_006343.2/1;CC=c.845-15_845-14insGTGTGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G,ATGTGTG:41:38:34:0:8,1,32:224,35,1072:0.00,2.26,107.89:0.00,-0.07,74.11:0.00,2.33,33.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:12.5,35.0,4.2:2,0,2:0,0,0:132,38,40:15,86,105:7,0,23:-,NM_006343.2(MERTK) c.845-30_845-29insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 112725830 . G . . NT END=112732865;NT GT ./. 2 112732716 rs2138568 A G 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.003195,G/0.9968;NP=3137;Gene=MERTK/NM_006343.2/1;CC=c.961-150A>G;VC=Intron;DM=MERTK/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:18:0:0:18:533:61.76:61.76:0.00:1.00:1.00:0.00:60:37.2:0:0:76:75:31:NM_006343.2(MERTK) c.961-150A>G,NM_006343.2(MERTK) c.961-150A>G:1,1:NOT_FOUND,NOT_FOUND 2 112733050 . G . . NT END=112740418;NT GT ./. 2 112740246 rs1996322 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4387,T/0.5613;Gene=MERTK/NM_006343.2/1;CC=c.1145-173C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:85.7:0:0:48:89:28:NM_006343.2(MERTK) c.1145-173C>T,NM_006343.2(MERTK) c.1145-173C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 2 112740373 rs1996323 G A 159 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.4387,A/0.5613;Gene=MERTK/NM_006343.2/1;CC=c.1145-46G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A,C:45:41:0:0:44,1:1382,13:158.74,0.35:135.84,0.00:22.90,0.35:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,23.0:0,0:0,0:48,79:102,72:27,0:NM_006343.2(MERTK) c.1145-46G>A,NM_006343.2(MERTK) c.1145-46G>A:0.52,0.52:0.634169,0.634169 2 112740571 . G . . NT END=112751827;NT GT ./. 2 112740596 rs57740008 GA G 247 nt VT=DEL;SST=Single;DP=75;DB;DBA=NA;PAF=GA/0.7632,G/0.2368;NP=1327;PC=0.001;Gene=MERTK/NM_006343.2/1;CC=c.1296+27delA;VC=Intron;DM=MERTK/Pkinase_Tyr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:GA,G:75:31:0:69:6,69:177,2227:0.00,246.53:0.00,57.77:0.00,188.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,4.8:0,0:0,0:142,92:1,54:5,24:NM_006343.2(MERTK) c.1296+27delA,NM_006343.2(MERTK) c.1296+27delA:0.21,0.21:0.220793,0.220793 2 112740598 rs57297275 T G 256 nt VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.7632,G/0.2368;PC=0.001;Gene=MERTK/NM_006343.2/1;CC=c.1296+28T>G;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G,T:71:28:0:0:69,2:2267,37:255.78,0.00:58.47,0.00:197.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:4.8,34.0:0,0:0,0:95,149:51,1:23,1:NM_006343.2(MERTK) c.1296+28T>G,NM_006343.2(MERTK) c.1296+28T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 112751928 rs7604639 G A 286 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.4385,A/0.5615;Gene=MERTK/NM_006343.2/1;CC=c.1397G>A;ProtCh=p.R466K;VC=Missense;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:80:54:0:1:79,1:2487,12:285.82,0.18:143.55,0.00:142.27,0.18:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,37.0:0,0:0,0:79,12:67,139:35,0:NM_006343.2(MERTK) c.1397G>A (p.Arg466Lys),NM_006343.2(MERTK) c.1397G>A (p.Arg466Lys):0.52,0.52:0.634015,0.634015 2 112751982 . G . . NT END=112754899;NT GT ./. 2 112752142 rs7592909 A C 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4387,C/0.5613;Gene=MERTK/NM_006343.2/1;CC=c.1450+161A>C;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:572:66.20:0.00:66.20:1.00:0.00:1.00:60:52.0:0:0:107:44:25:NM_006343.2(MERTK) c.1450+161A>C,NM_006343.2(MERTK) c.1450+161A>C:0.52,0.52:NOT_FOUND,NOT_FOUND 2 112754828 rs3811632 G T 145 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.6961,A/.,T/0.3039;PC=0.006;Gene=MERTK/NM_006343.2/1;CC=c.1451-72G>T;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:36:0:0:39:1269:145.50:118.51:26.99:1.00:1.00:1.00:60:36.4:0:0:36:106:27:NM_006343.2(MERTK) c.1451-72G>T,NM_006343.2(MERTK) c.1451-72G>T:0.27,0.27:0.302755,0.302755 2 112755001 rs2230515 A G 218 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.4385,G/0.5615;PC=0.002;Gene=MERTK/NM_006343.2/1;CC=c.1552A>G;ProtCh=p.I518V;VC=Missense;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:G:57:29:0:0:57:1909:218.08:71.16:146.92:1.00:1.00:1.00:60:38.7:0:0:66:79:40:NM_006343.2(MERTK) c.1552A>G (p.Ile518Val),NM_006343.2(MERTK) c.1552A>G (p.Ile518Val):0.52,0.52:0.633938,0.633938 2 112755054 . G . . NT END=112758777;NT GT ./. 2 112755209 rs3811636 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4387,A/0.5613;PC=0.001;Gene=MERTK/NM_006343.2/1;CC=c.1604+156G>A;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:195:23.19:0.00:23.19:1.00:0.00:1.00:60:54.6:0:0:102:48:32:NM_006343.2(MERTK) c.1604+156G>A,NM_006343.2(MERTK) c.1604+156G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 2 112755246 rs3811637 G C 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4393,C/0.5607;Gene=MERTK/NM_006343.2/1;CC=c.1604+193G>C;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:204:23.73:0.00:23.73:1.00:0.00:1.00:60:63.3:0:0:97:54:32:NM_006343.2(MERTK) c.1604+193G>C,NM_006343.2(MERTK) c.1604+193G>C:0.52,0.52:NOT_FOUND,NOT_FOUND 2 112758559 rs79058693 T A 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7075,A/0.2925;PC=0.009;Gene=MERTK/NM_006343.2/1;CC=c.1605-219T>A;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:102:12.07:12.07:0.00:1.00:1.00:0.00:60:28.2:0:0:61:89:27:NM_006343.2(MERTK) c.1605-219T>A,NM_006343.2(MERTK) c.1605-219T>A:0.26,0.26:NOT_FOUND,NOT_FOUND 2 112758864 . G . . NT END=112760668;NT GT ./. 2 112760765 . G . . NT END=112761480;NT GT ./. 2 112760944 rs4353657 C A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4852,A/0.5148;Gene=MERTK/NM_006343.2/1;CC=c.1786+180C>A;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:70.8:0:0:69:81:51:NM_006343.2(MERTK) c.1786+180C>A,NM_006343.2(MERTK) c.1786+180C>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 112761310 rs4278932 G A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7532,A/0.2468;Gene=MERTK/NM_006343.2/1;CC=c.1787-171G>A;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:173:20.14:20.14:0.00:1.00:1.00:0.00:60:64.8:0:0:93:57:37:NM_006343.2(MERTK) c.1787-171G>A,NM_006343.2(MERTK) c.1787-171G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 2 112761562 . G . . NT END=112765959;NT GT ./. 2 112761653 rs4848933 C G 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.4848,G/0.5152;Gene=MERTK/NM_006343.2/1;CC=c.1867+92C>G;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:2:0:0:14:461:52.75:4.08:48.67:1.00:1.00:1.00:60:37.6:0:0:89:61:36:NM_006343.2(MERTK) c.1867+92C>G,NM_006343.2(MERTK) c.1867+92C>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 112765973 rs1131244 A G 167 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.4848,G/0.5152;Gene=MERTK/NM_006343.2/1;CC=c.1881A>G;ProtCh=p.S627=;VC=Silent;DM=MERTK/Pkinase_Tyr;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:G:48:41:0:0:48:1443:166.69:101.98:64.71:1.00:1.00:1.00:60:37.2:0:0:49:99:22:NM_006343.2(MERTK) c.1881A>G (p.(=)),NM_006343.2(MERTK) c.1881A>G (p.(=)):0.48,0.48:0.587806,0.587806 2 112766053 . G . . NT END=112767524;NT GT ./. 2 112767406 rs11884641 A G 47 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7518,G/0.2482;Gene=MERTK/NM_006343.2/1;CC=c.1961-119A>G;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:407:46.89:46.89:0.00:1.00:1.00:0.00:60:56.1:0:0:44:107:26:NM_006343.2(MERTK) c.1961-119A>G,NM_006343.2(MERTK) c.1961-119A>G:0.22,0.22:NOT_FOUND,NOT_FOUND 2 112767483 rs11884693 A G 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.7514,C/.,G/0.2486;PC=0.073;Gene=MERTK/NM_006343.2/1;CC=c.1961-42A>G;VC=Intron;DM=MERTK/Pkinase_Tyr;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:18:0:0:20:652:74.70:62.67:12.03:1.00:1.00:1.00:60:52.0:0:0:62:89:41:NM_006343.2(MERTK) c.1961-42A>G,NM_006343.2(MERTK) c.1961-42A>G:0.22,0.22:0.234276,0.234276 2 112767644 . G . . NT END=112776989;NT GT ./. 2 112767739 rs75313362 A G 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8117,G/0.1883;Gene=MERTK/NM_006343.2/1;CC=c.2079+96A>G;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:0:0:0:13:440:50.20:0.00:50.20:1.00:0.00:1.00:60:55.5:0:0:85:62:37:NM_006343.2(MERTK) c.2079+96A>G,NM_006343.2(MERTK) c.2079+96A>G:0.17,0.17:NOT_FOUND,NOT_FOUND 2 112767824 rs77781750 A G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7532,G/0.2468;Gene=MERTK/NM_006343.2/1;CC=c.2079+181A>G;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:255:29.31:0.00:29.31:1.00:0.00:1.00:60:55.5:0:0:113:38:30:NM_006343.2(MERTK) c.2079+181A>G,NM_006343.2(MERTK) c.2079+181A>G:0.22,0.22:NOT_FOUND,NOT_FOUND 2 112776726 rs3811638 A G 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5112,G/0.4888;PC=0.017;Gene=MERTK/NM_006343.2/1;CC=c.2080-264A>G;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:70:8.81:8.81:0.00:1.00:1.00:0.00:60:50.2:0:0:94:55:26:NM_006343.2(MERTK) c.2080-264A>G,NM_006343.2(MERTK) c.2080-264A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 112776913 rs533583049 T TC 27 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.777,TC/0.2226,TCC/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.777,C/0.0003994;NP=803;Gene=MERTK/NM_006343.2/1;CC=c.2080-69dupC;VC=Intron;DM=MERTK/Pkinase_Tyr;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:TC:8:7:8:0:8:231:26.90:23.35:3.55:1.00:1.00:1.00:70:66.4:0:0:17:134:16:NM_006343.2(MERTK) c.2080-77_2080-76insC,NM_006343.2(MERTK) c.2080-77_2080-76insC:NOT_FOUND,NOT_FOUND:0.210265,0.210265 2 112776979 rs3811640 C A 89 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.7031,A/0.2969,T/.;PC=0.003;Gene=MERTK/NM_006343.2/1;CC=c.2080-11C>A;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:21:0:0:26:767:89.01:55.39:33.62:1.00:1.00:1.00:70:38.6:0:0:42:103:19:NM_006343.2(MERTK) c.2080-11C>A,NM_006343.2(MERTK) c.2080-11C>A:0.27,0.27:0.299938,0.299938 2 112777100 . G . . NT END=112778940;NT GT ./. 2 112778713 rs4643544 T G 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4523,G/0.5477;Gene=MERTK/NM_006343.2/1;CC=c.2190-286T>G;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:308:35.95:35.95:0.00:1.00:1.00:0.00:60:53.7:0:0:58:93:24:NM_006343.2(MERTK) c.2190-286T>G,NM_006343.2(MERTK) c.2190-286T>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 112779159 . G . . NT END=112779834;NT GT ./. 2 112779286 rs74876683 A ATC 41 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4533,ATC/0.5467;DB;DBA=NA;PAF=NA;NP=1196;Gene=MERTK/NM_006343.2/1;CC=c.2349+132_2349+133dupCT;VC=Intron;DM=MERTK/Pkinase_Tyr;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,ATC:14:1:12:0:2,12:61,381:0.00,41.33:0.00,3.71:0.00,37.62:0.00,1.00:0.00,0.90:0.00,1.00:60,60:0.0,4.7:0,0:0,0:146,99:4,51:1,22:-,NM_006343.2(MERTK) c.2349+128_2349+129insTC:-,0.52:-,NOT_FOUND 2 112779972 . G . . NT END=112785927;NT GT ./. 2 112785770 rs6738237 A G 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8125,G/0.1875;Gene=MERTK/NM_006343.2/1;CC=c.2487-158A>G;VC=Intron;DM=MERTK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:469:53.58:53.58:0.00:1.00:1.00:0.00:60:39.8:0:0:39:112:23:NM_006343.2(MERTK) c.2487-158A>G,NM_006343.2(MERTK) c.2487-158A>G:0.17,0.17:NOT_FOUND,NOT_FOUND 2 112786523 rs386390905 A AT 221 PASS VT=INS;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.8127,AT/0.1873;DB;DBA=NA;PAF=A/0.8127,AT/0.1873;NP=800;Gene=MERTK/NM_006343.2/1;CC=c.*85dupT;VC=3UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,T,AT:73:42:64:0:7,2,64:185,61,2008:0.00,3.85,221.40:0.00,1.12,101.96:0.00,2.73,119.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.9,84.5,8.1:1,1,0:0,0,0:146,29,80:5,113,68:1,29,32:-,NM_006343.2(MERTK) c.*85dupT:-,0.17:-,NOT_FOUND 2 112786947 . A . . NT END=112813168;NT GT ./. 2 112813334 . G . . NT END=112817553;NT GT ./. 2 112817615 . G . . NT END=112821738;NT GT ./. 2 112821831 . G . . NT END=112824512;NT GT ./. 2 112824645 . G . . NT END=112832488;NT GT ./. 2 112832540 . G . . NT END=112834767;NT GT ./. 2 112832684 rs6542026 G A 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.001797,A/0.9982;NP=1721;Gene=TMEM87B/NM_032824.2/1;CC=c.501+145G>A;VC=Intron;DM=TMEM87B/Lung_7-TM_R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:270:30.82:0.00:30.82:1.00:0.00:1.00:60:36.8:0:0:90:60:17:NM_032824.2(TMEM87B) c.501+145G>A,NM_032824.2(TMEM87B) c.501+145G>A:1,1:NOT_FOUND,NOT_FOUND 2 112834860 . G . . NT END=112838633;NT GT ./. 2 112838696 . G . . NT END=112838911;NT GT ./. 2 112839096 . G . . NT END=112843581;NT GT ./. 2 112843682 . G . . NT END=112847201;NT GT ./. 2 112847296 . G . . NT END=112849288;NT GT ./. 2 112849361 . A . . NT END=112852804;NT GT ./. 2 112852738 . C T 11 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;Gene=TMEM87B/NM_032824.2/1;CC=c.1105-1883C>T;VC=Intron;DM=TMEM87B/Lung_7-TM_R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,T:44:39:0:1:37,7:981,156:0.00,10.69:0.00,-0.16:0.00,10.85:0.00,0.93:0.00,0.99:0.00,0.57:60,60:17.9,78.4:0,1:0,0:93,23:49,116:23,16:-,NM_032824.2(TMEM87B) c.1105-1883C>T:-,NOT_FOUND:-,NOT_FOUND 2 112852742 . C T 14 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;NP=4;PC=0.001;Gene=TMEM87B/NM_032824.2/1;CC=c.1105-1879C>T;VC=Intron;DM=TMEM87B/Lung_7-TM_R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:C,T:44:38:0:1:37,7:842,185:0.00,13.59:0.00,-1.63:0.00,15.22:0.00,0.93:0.00,0.99:0.00,0.62:60,60:20.9,62.6:0,0:0,0:97,27:47,112:23,15:-,NM_032824.2(TMEM87B) c.1105-1879C>T:-,NOT_FOUND:-,NOT_FOUND 2 112853057 . T G 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;Gene=TMEM87B/NM_032824.2/1;CC=c.1105-1564T>G;VC=Intron;DM=TMEM87B/Lung_7-TM_R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:70:24:0:0:25,45:818,1454:73.90,0.00:21.22,0.00:52.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,9.9:0,0:0,0:79,72:70,75:38,38:NM_032824.2(TMEM87B) c.1105-1564T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 112853058 . t . . NT END=112854620;NT GT ./. 2 112854563 rs375042771 GT G 7 rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=41;PC=0.039;Gene=TMEM87B/NM_032824.2/1;CC=c.1105-46delT;VC=Intron;DM=TMEM87B/Lung_7-TM_R;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:GT,I,G:30:30:1:3:26,1,3:829,33,96:0.00,1.92,6.85:0.00,1.97,5.77:0.00,-0.05,1.08:0.00,0.00,0.43:0.00,0.00,0.43:0.00,0.00,0.52:60,60,60:31.2,0.0,14.7:0,0,0:0,0,0:54,115,111:96,35,40:33,0,9:-,NM_032824.2(TMEM87B) c.1105-57delT:-,NOT_FOUND:-,NOT_FOUND 2 112854568 . T A 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;PC=0.002;Gene=TMEM87B/NM_032824.2/1;CC=c.1105-53T>A;VC=Intron;DM=TMEM87B/Lung_7-TM_R GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:33:0:0:12,21:350,685:31.29,0.00:28.94,0.00:2.35,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:35.4,20.0:0,4:0,0:42,64:105,87:27,42:NM_032824.2(TMEM87B) c.1105-53T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 112854730 . G . . NT END=112854809;NT GT ./. 2 112854869 . G . . NT END=112856171;NT GT ./. 2 112856276 . G . . NT END=112858198;NT GT ./. 2 112858273 . G . . NT END=112863578;NT GT ./. 2 112863653 . G . . NT END=112865364;NT GT ./. 2 112865418 . G . . NT END=112870475;NT GT ./. 2 112865517 rs7562848 G C 59 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.000599,C/0.9994;NP=2906;Gene=TMEM87B/NM_032824.2/1;CC=c.1577+100G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:1:0:0:17:512:59.24:1.89:57.35:1.00:1.00:1.00:60:39.4:0:0:96:55:32:NM_032824.2(TMEM87B) c.1577+100G>C,NM_032824.2(TMEM87B) c.1577+100G>C:1,1:NOT_FOUND,NOT_FOUND 2 112870507 . G . . NT END=112873660;NT GT ./. 2 112873721 . T . . NT END=112896232;NT GT ./. 2 112896308 . G . . NT END=112917252;NT GT ./. 2 112896591 . T C 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;Gene=FBLN7/NM_001128165.1/0;CC=c.75+284T>C;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+284T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C,T:35:22:0:0:1,3,31:23,101,764:0.87,7.13,0.00:-0.22,0.85,0.00:1.08,6.29,0.00:0.00,0.40,0.00:0.00,0.75,0.00:0.00,0.75,0.00:60,41,60:160.0,96.3,49.3:0,0,0:0,0,0:90,68,89:59,83,47:0,20,32:NM_153214.2(FBLN7) c.75+284T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 112896796 . A C 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;Gene=FBLN7/NM_001128165.1/0;CC=c.75+489A>C;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+489A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C,G,T:54:40:0:0:44,7,1,2:1125,139,13,23:0.00,8.53,-0.05,0.05:0.00,8.68,-0.20,0.38:0.00,-0.16,0.15,-0.33:0.00,0.92,0.00,0.00:0.00,0.98,0.00,0.00:0.00,0.94,0.00,0.00:60,60,19,23:52.8,139.9,167.0,113.0:0,0,0,0:0,0,0,0:85,124,67,68:37,27,84,76:38,26,0,22:-,NM_153214.2(FBLN7) c.75+489A>C:-,NOT_FOUND:-,NOT_FOUND 2 112896865 rs36228464 T C 51 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=14;Gene=FBLN7/NM_001128165.1/0;CC=c.75+558T>C;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+558T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:37:24:0:0:1,18,1,17:12,533,36,418:0.14,51.33,2.31,0.00:-0.15,23.85,-0.15,0.00:0.29,27.47,2.46,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:23,60,2,43:75.0,82.2,218.0,48.3:0,0,0,0:0,0,0,0:57,104,32,21:94,18,114,107:0,28,0,11:NM_153214.2(FBLN7) c.75+558T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 112896892 rs74182854 C T 9 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=FBLN7/NM_001128165.1/0;CC=c.75+585C>T;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+585C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:33:21:0:0:27,6:757,129:0.00,9.05:0.00,0.83:0.00,8.22:0.00,0.89:0.00,0.96:0.00,0.93:55,33:59.0,134.7:0,0:0,0:44,129:99,21:19,2:-,NM_153214.2(FBLN7) c.75+585C>T:-,NOT_FOUND:-,NOT_FOUND 2 112897012 rs367924941 A C 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=FBLN7/NM_001128165.1/0;CC=c.75+705A>C;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+705A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,C,G,T:40:20:0:0:31,7,1,1:861,151,12,13:0.00,10.62,-0.02,0.04:0.00,7.44,-0.13,-0.13:0.00,3.18,0.11,0.17:0.00,0.94,0.00,0.00:0.00,0.95,0.00,0.00:0.00,0.98,0.00,0.00:60,54,58,20:50.0,85.7,128.0,46.0:0,0,0,0:0,0,0,0:92,71,61,94:36,57,90,57:31,29,0,0:-,NM_153214.2(FBLN7) c.75+705A>C:-,NOT_FOUND:-,NOT_FOUND 2 112897055 rs371736721 T C 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.488,C/0.512;NP=3;Gene=FBLN7/NM_001128165.1/0;CC=c.75+748T>C;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+748T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,T:29:17:0:0:4,25:111,624:8.00,0.00:7.25,0.00:0.75,0.00:0.65,0.00:0.85,0.00:0.84,0.00:60,60:74.8,44.7:0,0:0,0:73,98:72,30:25,33:NM_153214.2(FBLN7) c.75+748T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 112897430 . C G 11 sb;mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=65;Gene=FBLN7/NM_001128165.1/0;CC=c.75+1123C>G;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+1123C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,G,T:65:38:0:0:56,8,1:1522,176,11:0.00,11.10,-0.19:0.00,0.17,0.00:0.00,10.93,-0.19:0.00,0.95,0.00:0.00,0.97,0.00:0.00,0.98,0.00:60,17,16:57.9,130.1,97.0:0,0,0:0,0,0:77,94,63:42,55,46:30,22,0:-,NM_153214.2(FBLN7) c.75+1123C>G:-,NOT_FOUND:-,NOT_FOUND 2 112897463 . T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;Gene=FBLN7/NM_001128165.1/0;CC=c.75+1156T>C;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+1156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,T:49:28:0:0:10,39:201,1078:14.18,0.00:11.02,0.00:3.16,0.00:0.99,0.00:0.99,0.00:1.00,0.00:60,60:88.7,71.8:0,0:0,0:101,104:17,34:33,30:NM_153214.2(FBLN7) c.75+1156T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 112897782 . T C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;Gene=FBLN7/NM_001128165.1/0;CC=c.75+1475T>C;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.75+1475T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:34:23:0:0:6,28:128,821:8.86,0.00:2.86,0.00:6.00,0.00:0.89,0.00:0.96,0.00:0.97,0.00:60,60:94.0,47.4:0,0:0,0:109,96:28,32:20,25:NM_153214.2(FBLN7) c.75+1475T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 112917413 . G . . NT END=112922577;NT GT ./. 2 112922749 . G . . NT END=112933290;NT GT ./. 2 112933417 . G . . NT END=112939315;NT GT ./. 2 112939042 rs7600843 C T 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4345,T/0.5655;Gene=FBLN7/NM_001128165.1/0;CC=c.533-1326C>T;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.533-274C>T;VC=Intron;DM=FBLN7/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:349:40.12:40.12:0.00:1.00:1.00:0.00:60:69.7:0:0:39:107:22:NM_153214.2(FBLN7) c.533-274C>T,NM_153214.2(FBLN7) c.533-274C>T:0.58,0.58:NOT_FOUND,NOT_FOUND 2 112939115 rs7564437 T G 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.2622,G/0.7378;Gene=FBLN7/NM_001128165.1/0;CC=c.533-1253T>G;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.533-201T>G;VC=Intron;DM=FBLN7/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:26:0:0:26:790:91.25:91.25:0.00:1.00:1.00:0.00:60:50.8:0:0:40:110:35:NM_153214.2(FBLN7) c.533-201T>G,NM_153214.2(FBLN7) c.533-201T>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 112939454 . G . . NT END=112940367;NT GT ./. 2 112940506 . G . . NT END=112942777;NT GT ./. 2 112942917 . G . . NT END=112944710;NT GT ./. 2 112943070 rs12711736 C T 130 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.227,T/0.773;Gene=FBLN7/NM_001128165.1/0;CC=c.809+154C>T;VC=Intron;Gene=FBLN7/NM_153214.2/1;CC=c.947+154C>T;VC=Intron;DM=FBLN7/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:T:36:0:0:0:36:1128:129.87:0.00:129.87:1.00:0.00:1.00:60:41.5:0:0:107:43:27:NM_153214.2(FBLN7) c.947+154C>T,NM_153214.2(FBLN7) c.947+154C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 2 112945084 . G . . NT END=112988494;NT GT ./. 2 112945188 rs4848281 T A 113 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.2264,A/0.7736;Gene=FBLN7/NM_001128165.1/0;CC=c.*105T>A;VC=3UTR;Gene=FBLN7/NM_153214.2/1;CC=c.*105T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:A,C:35:7:0:0:33,2:985,19:113.33,0.72:13.13,0.00:100.20,0.72:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,28.0:0,0:0,0:113,76:37,74:19,62:NM_153214.2(FBLN7) c.*105T>A,NM_153214.2(FBLN7) c.*105T>A:0.78,0.78:NOT_FOUND,NOT_FOUND 2 112988528 . C . . NT END=112989414;NT GT ./. 2 112989525 . G . . NT END=112990836;NT GT ./. 2 112990949 . C . . NT END=112991696;NT GT ./. 2 112991814 . C . . NT END=112994138;NT GT ./. 2 112994273 . C . . NT END=112995891;NT GT ./. 2 112996106 . C . . NT END=113007767;NT GT ./. 2 112998529 rs67273091 AGT A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AGT/0.5889,A/0.4111;NP=71;PC=0.002;Gene=ZC3H8/NM_032494.2/1;CC=c.157-2426_157-2425delAC;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AGT,A:4:4:0:3:2,2:69,99:0.00,6.31:0.00,1.47:0.00,4.85:0.00,0.46:0.00,0.87:0.00,0.87:60,60:0.0,8.0:0,1:0,0:102,55:31,95:11,23:-,NM_032494.2(ZC3H8) c.157-2426_157-2425delAC:-,NOT_FOUND:-,NOT_FOUND 2 113007850 . C . . NT END=113011652;NT GT ./. 2 113011677 . G . . NT END=113012484;NT GT ./. 2 113012559 . G . . NT END=113033571;NT GT ./. 2 113033604 . G . . NT END=113057425;NT GT ./. 2 113057607 . G . . NT END=113060805;NT GT ./. 2 113060929 . G . . NT END=113067461;NT GT ./. 2 113067739 . G . . NT END=113069380;NT GT ./. 2 113069515 . G . . NT END=113074046;NT GT ./. 2 113074164 . G . . NT END=113074797;NT GT ./. 2 113074576 rs4622729 G A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.3842,A/0.6158;PC=0.015;Gene=ZC3H6/NM_198581.2/1;CC=c.865-222G>A;VC=Intron;DM=ZC3H6/zf-CCCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:6:6:0:0:4,2:134,66:13.65,0.00:13.65,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:33.5,0.0:0,0:0,0:53,16:97,134:19,11:NM_198581.2(ZC3H6) c.865-222G>A,-:0.61,-:NOT_FOUND,- 2 113074775 rs5833444 C CT 23 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.4595,CT/0.5405,CTT/.,CTTT/.,CTTTTTTTT/.;DB;DBA=NA;PAF=C/0.4595,CT/0.5405,CTT/.;NP=1;NP=1;NP=68;Gene=ZC3H6/NM_198581.2/1;CC=c.865-9_865-8insT;VC=Intron;DM=ZC3H6/zf-CCCH;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT,D:31:30:11:4:20,1,8,2:631,11,357,130:0.00,0.04,22.51,4.45:0.00,-0.17,18.63,2.08:0.00,0.22,3.88,2.38:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.98,0.00:60,60,60,60:33.0,34.0,70.1,134.5:0,0,3,2:0,0,0,0:57,26,32,67:93,124,118,83:14,0,11,14:-,NM_198581.2(ZC3H6) c.865-23_865-22insT:-,NOT_FOUND:-,NOT_FOUND 2 113074910 . A . . NT END=113079332;NT GT ./. 2 113079443 . G . . NT END=113080225;NT GT ./. 2 113079576 rs4507112 C A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.3844,A/0.6156;Gene=ZC3H6/NM_198581.2/1;CC=c.1086+134C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,C:6:0:0:0:3,3:96,104:9.22,0.00:0.00,0.00:9.22,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:32.0,0.0:0,0:0,0:81,65:68,86:41,8:NM_198581.2(ZC3H6) c.1086+134C>A,-:0.61,-:NOT_FOUND,- 2 113080480 . G . . NT END=113081728;NT GT ./. 2 113082241 . G . . NT END=113082540;NT GT ./. 2 113082250 rs59100751 CT C 125 rn VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=CT/0.3842,C/0.6158;DB;DBA=NA;PAF=CT/0.3842,C/0.6158;NP=1502;PC=0.008;Gene=ZC3H6/NM_198581.2/1;CC=c.1852+16delT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:74:22:0:41:34,40:1101,1284:0.00,125.34:0.00,31.16:0.00,94.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,4.8:0,0:0,0:97,81:50,65:40,27:-,NM_198581.2(ZC3H6) c.1852+11delT:-,0.61:-,0.478276 2 113082775 . G . . NT END=113088581;NT GT ./. 2 113089267 rs7601200 T C 190 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.2744,C/0.7256;Gene=ZC3H6/NM_198581.2/1;CC=c.2772T>C;ProtCh=p.N924=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:125:90:0:0:61,64:1990,2054:190.49,0.00:124.04,0.00:66.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,2.9:0,0:0,0:64,66:87,82:42,42:NM_198581.2(ZC3H6) c.2772T>C (p.(=)),-:0.71,-:0.636142,- 2 113090047 rs4578863 T C 131 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.276,C/0.724;Gene=ZC3H6/NM_198581.2/1;CC=c.3552T>C;ProtCh=p.T1184=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:104:39:0:0:48,56:1392,1891:130.78,0.00:33.59,0.00:97.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,3.7:0,0:0,0:74,94:73,56:36,25:NM_198581.2(ZC3H6) c.3552T>C (p.(=)),-:0.71,-:0.65102,- 2 113090066 . C . . NT END=113127754;NT GT ./. 2 113127621 . C T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;NP=189;Gene=RGPD8/NM_001164463.1/1;CC=c.*134G>A;VC=3UTR;Gene=RGPD5/NM_005054.2/1;CC=c.*134G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,T:25:25:0:0:22,3:650,99:0.00,7.35:0.00,7.35:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:42,40:24.3,103.3:0,0:0,0:53,38:97,112:33,6:-,NM_001164463.1(RGPD8) c.*134G>A:-,NOT_FOUND:-,NOT_FOUND 2 113127691 rs377206810 G A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=102;PC=1.000;Gene=RGPD8/NM_001164463.1/1;CC=c.*64C>T;VC=3UTR;Gene=RGPD5/NM_005054.2/1;CC=c.*64C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:55:49:0:0:8,47:186,1428:12.68,0.00:13.46,0.00:-0.78,0.00:0.96,0.00:1.00,0.00:0.87,0.00:40,41:103.9,6.8:0,0:0,0:68,32:82,116:38,17:NM_001164463.1(RGPD8) c.*64C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 113127775 rs370761877 G C 38 sb,lc VT=SNV;PN=G;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=52;PC=0.778;Gene=RGPD8/NM_001164463.1/1;CC=c.5278C>G;ProtCh=p.P1760A;VC=Missense;Gene=RGPD5/NM_005054.2/1;CC=c.5278C>G;ProtCh=p.P1760A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:99:79:0:0:14,85:491,2657:38.28,0.00:40.91,0.00:-2.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:56.6,9.1:0,0:0,0:47,76:104,71:25,27:NM_001164463.1(RGPD8) c.5278C>G (p.Pro1760Ala),-:NOT_FOUND,-:NOT_FOUND,- 2 113127790 . C . . NT END=113135629;NT GT ./. 2 113128040 rs71238506 C A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=4;PC=0.160;Gene=RGPD8/NM_001164463.1/1;CC=c.5264-251G>T;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.5264-251G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,C:11:0:0:0:4,7:111,220:9.88,0.00:0.00,0.00:9.88,0.00:0.82,0.00:0.00,0.00:0.82,0.00:37,56:40.5,7.6:0,0:0,0:125,78:-2,72:9,26:NM_001164463.1(RGPD8) c.5264-251G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 113135724 . C T 15 lc VT=SNV;PN=G;NN=T;SST=Single;DP=13;PC=0.951;Gene=RGPD8/NM_001164463.1/1;CC=c.5169G>A;ProtCh=p.K1723=;VC=Silent;Gene=RGPD5/NM_005054.2/1;CC=c.5169G>A;ProtCh=p.K1723=;VC=Silent;DM=RGPD8/GRIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,T:13:0:0:0:8,5:283,168:0.00,15.42:0.00,0.00:0.00,15.42:0.00,0.91:0.00,0.00:0.00,0.91:25,24:1.1,42.8:0,0:0,0:76,49:74,102:26,39:-,NM_001164463.1(RGPD8) c.5169G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 113135832 . C . . NT END=113138400;NT GT ./. 2 113138227 . C CAAAA 78 idl,nt VT=INS;SST=Single;DP=95;NP=1;PC=0.001;Gene=RGPD8/NM_001164463.1/1;CC=c.5061+173_5061+174insTTTT;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.5061+173_5061+174insTTTT;VC=Intron;DM=RGPD8/Rab_bind;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CAAAA,D:70:95:47:12:1,34,1,27,7:32,1033,8,1442,387:1.56,0.00,-0.10,77.91,16.50:1.56,0.00,-0.10,77.91,16.50:0.00,0.00,0.00,0.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00,0.00:55,60,19,60,59:32.0,46.1,111.0,77.0,57.3:0,0,0,20,5:0,0,0,0,0:0,82,110,35,21:151,58,15,113,129:0,37,0,16,15:-,NM_001164463.1(RGPD8) c.5061+173_5061+174insTTTT:-,NOT_FOUND:-,NOT_FOUND 2 113138301 rs200062883 TG T 54 nt VT=DEL;SST=Single;DP=150;DB;DBA=NA;PAF=TG/0.9613,T/0.03874;NP=30;Gene=RGPD8/NM_001164463.1/1;CC=c.5061+99delC;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.5061+99delC;VC=Intron;DM=RGPD8/Rab_bind;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TG,T:150:145:0:34:1,115,34:8,3332,728:-0.31,0.00,54.41:-0.32,0.00,50.26:0.01,0.00,4.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:25,60,60:53.0,25.4,43.7:0,0,0:0,0,0:1,50,89:150,98,54:0,32,13:-,NM_001164463.1(RGPD8) c.5061+99delC:-,0.05:-,NOT_FOUND 2 113138346 rs201248615 A G 131 nt VT=SNV;PN=A;NN=G;SST=Single;DP=205;DB;DBA=NA;PAF=NA;NP=103;PC=0.015;Gene=RGPD8/NM_001164463.1/1;CC=c.5061+55T>C;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.5061+55T>C;VC=Intron;DM=RGPD8/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:205:165:0:0:148,57:4712,1563:0.00,130.86:0.00,52.15:0.00,78.72:0.00,1.00:0.00,1.00:0.00,1.00:60,40:10.2,46.9:0,0:0,0:38,64:109,86:26,51:-,NM_001164463.1(RGPD8) c.5061+55T>C:-,NOT_FOUND:-,NOT_FOUND 2 113138541 . C . . NT END=113141535;NT GT ./. 2 113139860 rs199775193 A T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=47;PC=0.015;Gene=RGPD8/NM_001164463.1/1;CC=c.4922-1320T>A;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.4922-1320T>A;VC=Intron;DM=RGPD8/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,T:9:9:0:0:6,3:180,100:0.00,8.95:0.00,8.95:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:40,24:25.2,33.3:0,0:0,0:93,21:57,129:39,7:-,NM_001164463.1(RGPD8) c.4922-1320T>A:-,NOT_FOUND:-,NOT_FOUND 2 113140054 rs62157468 G A 63 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=2;PC=1.000;Gene=RGPD8/NM_001164463.1/1;CC=c.4922-1514C>T;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.4922-1514C>T;VC=Intron;DM=RGPD8/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:42:34:0:0:21,1,20:653,9,673:62.98,-0.04,0.00:55.05,-0.17,0.00:7.92,0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.87,0.00,0.00:40,18,25:35.5,216.0,2.1:0,0,0:0,0,0:49,73,32:101,78,118:22,0,24:NM_001164463.1(RGPD8) c.4922-1514C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 113140239 rs201544035 G T 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.002;Gene=RGPD8/NM_001164463.1/1;CC=c.4922-1699C>A;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.4922-1699C>A;VC=Intron;DM=RGPD8/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:66:18:0:0:49,17:1567,468:0.00,38.56:0.00,14.24:0.00,24.32:0.00,1.00:0.00,0.99:0.00,1.00:25,40:6.0,36.9:0,0:0,0:116,112:35,39:19,15:-,NM_001164463.1(RGPD8) c.4922-1699C>A:-,NOT_FOUND:-,NOT_FOUND 2 113142071 . G A 89 lc VT=SNV;PN=C;NN=G;SST=Single;DP=63;Gene=RGPD8/NM_001164463.1/1;CC=c.4921+3530C>T;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.4921+3530C>T;VC=Intron;DM=RGPD8/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:63:0:0:29,34:942,942:89.22,0.00:89.22,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:22,22:37.3,2.9:0,0:0,0:110,101:41,48:15,17:NM_001164463.1(RGPD8) c.4921+3530C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 113142241 . C . . NT END=113143732;NT GT ./. 2 113144711 . C . . NT END=113145600;NT GT ./. 2 113145468 rs199623454 T C 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.7436,C/0.2564;NP=277;Gene=RGPD8/NM_001164463.1/1;CC=c.4921+133A>G;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.4921+133A>G;VC=Intron;DM=RGPD8/Rab_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:48:0:0:25,23:796,677:77.09,0.00:75.19,0.00:1.90,0.00:1.00,0.00:1.00,0.00:0.68,0.00:40,50:51.4,17.3:0,0:0,0:63,73:75,76:20,22:NM_001164463.1(RGPD8) c.4921+133A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 113145900 rs201473406 A C 132 lc VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=1.000;Gene=RGPD8/NM_001164463.1/1;CC=c.4622T>G;ProtCh=p.V1541G;VC=Missense;Gene=RGPD5/NM_005054.2/1;CC=c.4622T>G;ProtCh=p.V1541G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A,C,G:42:36:0:0:3,38,1:67,1185,13:0.00,132.11,0.34:0.00,112.03,0.35:0.00,20.08,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,23:32.7,33.6,13.0:0,0,0:0,0,0:56,13,82:95,138,69:1,9,0:NM_001164463.1(RGPD8) c.4622T>G (p.Val1541Gly),NM_001164463.1(RGPD8) c.4622T>G (p.Val1541Gly):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 113147159 rs62157473 G A 650 lc VT=SNV;PN=G;NN=G;SST=Single;DP=888;DB;DBA=NA;PAF=NA;NP=1710;PC=0.049;Gene=RGPD8/NM_001164463.1/1;CC=c.3363C>T;ProtCh=p.P1121=;VC=Silent;Gene=RGPD5/NM_005054.2/1;CC=c.3363C>T;ProtCh=p.P1121=;VC=Silent;DM=RGPD8/Ran_BP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:888:462:0:0:227,2,659:7601,10,20444:649.63,-0.56,0.00:203.07,-0.23,0.00:446.56,-0.34,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,40,44:44.7,147.0,6.7:0,0,0:0,0,0:101,62,97:49,87,49:21,2,26:NM_001164463.1(RGPD8) c.3363C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 113147238 . A G 218 lc VT=SNV;PN=T;NN=G;SST=Single;DP=405;NP=42;PC=1.000;Gene=RGPD8/NM_001164463.1/1;CC=c.3284T>C;ProtCh=p.L1095P;VC=Missense;Gene=RGPD5/NM_005054.2/1;CC=c.3284T>C;ProtCh=p.L1095P;VC=Missense;DM=RGPD8/Ran_BP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:405:63:0:0:314,2,88,1:10054,10,2672,12:0.00,-0.66,217.55,-0.24:0.00,-0.10,2.72,-0.04:0.00,-0.56,214.84,-0.20:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:40,24,40,24:7.8,114.0,57.8,46.0:0,0,0,0:0,0,0,0:100,72,90,33:48,76,59,109:36,17,38,0:-,NM_001164463.1(RGPD8) c.3284T>C (p.Leu1095Pro):-,NOT_FOUND:-,NOT_FOUND 2 113147370 rs202082997 G A 59 sb,lc VT=SNV;PN=T;NN=T;SST=Single;DP=206;DB;DBA=NA;PAF=NA;PC=1.000;Gene=RGPD8/NM_001164463.1/1;CC=c.3152C>T;ProtCh=p.T1051I;VC=Missense;Gene=RGPD5/NM_005054.2/1;CC=c.3152C>T;ProtCh=p.T1051I;VC=Missense;DM=RGPD8/Ran_BP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:206:79:0:0:27,177,2:810,5621,21:59.42,0.00,-0.55:-4.75,0.00,-0.21:64.17,0.00,-0.33:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:24,40,25:52.8,12.2,36.0:0,0,0:0,0,0:111,74,110:39,75,39:21,36,39:NM_001164463.1(RGPD8) c.3152C>T (p.Thr1051Ile),-:NOT_FOUND,-:NOT_FOUND,- 2 113147825 . C . . NT END=113148551;NT GT ./. 2 113148647 . C . . NT END=113152194;NT GT ./. 2 113152331 . C . . NT END=113155498;NT GT ./. 2 113155583 . C . . NT END=113155675;NT GT ./. 2 113155856 . C . . NT END=113156799;NT GT ./. 2 113156947 . C . . NT END=113157208;NT GT ./. 2 113157347 . C . . NT END=113157612;NT GT ./. 2 113157772 . C . . NT END=113158693;NT GT ./. 2 113158818 . C . . NT END=113158984;NT GT ./. 2 113159161 . C . . NT END=113159243;NT GT ./. 2 113159426 . C . . NT END=113161542;NT GT ./. 2 113161753 . C . . NT END=113163873;NT GT ./. 2 113163962 . C . . NT END=113170007;NT GT ./. 2 113170032 . T C 18 lc VT=SNV;PN=A;NN=G;SST=Single;DP=6;Gene=RGPD8/NM_001164463.1/1;CC=c.954A>G;ProtCh=p.A318=;VC=Silent;Gene=RGPD5/NM_005054.2/1;CC=c.954A>G;ProtCh=p.A318=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:C,T:6:6:0:0:5,1:163,28:17.51,0.00:17.51,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:25,24:69.4,0.0:0,0:0,0:116,2:33,149:26,0:NM_001164463.1(RGPD8) c.954A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 113170204 . C . . NT END=113174769;NT GT ./. 2 113174916 . C . . NT END=113175260;NT GT ./. 2 113175492 . C . . NT END=113179536;NT GT ./. 2 113179690 . C . . NT END=113180124;NT GT ./. 2 113180237 . C . . NT END=113181816;NT GT ./. 2 113181885 . C . . NT END=113190106;NT GT ./. 2 113182028 . G A 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=87;NP=9;PC=0.002;Gene=RGPD8/NM_001164463.1/1;CC=c.73-144C>T;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.73-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:87:1:0:0:12,74,1:414,2271,12:32.04,0.00,-0.19:-0.03,0.00,-0.00:32.07,0.00,-0.18:1.00,0.00,0.00:0.43,0.00,0.00:1.00,0.00,0.00:31,50,40:37.0,13.2,78.0:0,0,0:0,0,0:134,81,141:16,70,10:8,34,0:NM_001164463.1(RGPD8) c.73-144C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 113189910 rs577892118 AT A 21 idl,rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=AT/0.9912,A/0.008786;NP=1;PC=0.048;Gene=RGPD8/NM_001164463.1/1;CC=c.72+1048delA;VC=Intron;Gene=RGPD5/NM_005054.2/1;CC=c.72+1048delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:AT,I,A:49:49:2:10:38,2,9:1158,53,297:0.00,2.80,20.73:0.00,2.82,20.82:0.00,-0.02,-0.09:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.45:60,40,55:25.6,23.5,21.8:0,0,1:0,0,0:58,72,54:89,79,96:34,43,30:-,NM_001164463.1(RGPD8) c.72+1048delA:-,NOT_FOUND:-,NOT_FOUND 2 113190186 . G . . NT END=113190958;NT GT ./. 2 113191031 . C . . NT END=113239921;NT GT ./. 2 113191231 rs28571589 G C 56 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.7698,C/0.2302;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:58:0:0:0:22,36:618,1144:55.53,0.00:0.00,0.00:55.53,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:47.1,11.8:0,0:0,0:113,104:38,47:30,31:NM_001164463.1(RGPD8) c.-192-u9C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 113204291 rs58456133 T TAC 15 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=89;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:T,TAC:7:7:5:0:2,5:53,146:0.00,15.17:0.00,11.63:0.00,3.53:0.00,0.98:0.00,0.98:0.00,0.93:60,60:0.0,35.8:0,0:0,0:118,16:30,112:7,6:-,chr2 g.113204291_113204292insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 113240079 . G . . NT END=113243493;NT GT ./. 2 113243321 rs3961919 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.371,A/0.629;Gene=TTL/NM_153712.4/1;CC=c.158-173G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:11:11:0:0:5,6:158,156:14.90,0.00:14.90,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:56.2,36.3:0,0:0,0:6,52:145,88:6,17:NM_153712.4(TTL) c.158-173G>A,-:0.62,-:NOT_FOUND,- 2 113243573 . G . . NT END=113251719;NT GT ./. 2 113251953 . G . . NT END=113258782;NT GT ./. 2 113258564 rs536591389 T C 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;Gene=TTL/NM_153712.4/1;CC=c.470-219T>C;VC=Intron;DM=TTL/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:9:9:0:0:5,4:177,130:17.40,0.00:17.40,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:40,40:49.2,17.8:0,0:0,0:41,66:91,83:24,8:NM_153712.4(TTL) c.470-219T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 113258671 rs62157516 G A 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.5477,A/0.4523;Gene=TTL/NM_153712.4/1;CC=c.470-112G>A;VC=Intron;DM=TTL/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:30:0:0:13,17:409,479:38.18,0.00:33.27,0.00:4.90,0.00:1.00,0.00:1.00,0.00:0.96,0.00:50,60:32.2,5.2:0,0:0,0:25,47:113,104:19,24:NM_153712.4(TTL) c.470-112G>A,-:0.25,-:NOT_FOUND,- 2 113258916 rs17846193 C T 98 lc VT=SNV;PN=T;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=1343;PC=0.952;Gene=TTL/NM_153712.4/1;CC=c.603C>T;ProtCh=p.I201=;VC=Silent;DM=TTL/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:34:0:0:44,33:1450,1050:0.00,97.89:0.00,15.75:0.00,82.15:0.00,1.00:0.00,1.00:0.00,1.00:60,50:5.0,36.2:0,0:0,0:93,102:49,47:31,25:-,NM_153712.4(TTL) c.603C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 113258919 . G . . NT END=113260488;NT GT ./. 2 113260214 rs59408840 CA C 17 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=9;PC=0.001;Gene=TTL/NM_153712.4/1;CC=c.606-259delA;VC=Intron;DM=TTL/TTL;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CA,C:6:8:0:7:1,5:36,224:0.00,16.64:0.00,16.64:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,70:0.0,19.0:0,2:0,0:87,83:64,68:0,26:-,NM_153712.4(TTL) c.606-274delA:-,NOT_FOUND:-,NOT_FOUND 2 113260238 rs59311967 AT A 12 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AT/0.5475,A/0.4525;DB;DBA=NA;PAF=AT/0.5475,A/0.4525;NP=109;PC=0.001;Gene=TTL/NM_153712.4/1;CC=c.606-244delT;VC=Intron;DM=TTL/TTL;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:AT,A:9:9:0:4:5,4:147,128:0.00,12.03:0.00,12.03:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:70,60:16.8,2.8:0,0:0,0:70,108:81,43:46,7:-,NM_153712.4(TTL) c.606-250delT:-,0.45:-,NOT_FOUND 2 113260759 . G . . NT END=113277858;NT GT ./. 2 113277949 rs62157538 T C 212 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=T/0.8157,C/0.1843;PC=0.426;Gene=TTL/NM_153712.4/1;CC=c.966T>C;ProtCh=p.D322=;VC=Silent;DM=TTL/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:140:104:0:0:1,69,70:12,2211,2342:-0.10,211.98,0.00:-0.11,114.47,0.00:0.01,97.51,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:23.0,40.3,3.1:0,0,0:0,0,0:27,75,68:121,65,80:0,28,31:NM_153712.4(TTL) c.966T>C (p.(=)),-:0.19,-:0.146855,- 2 113278003 . G . . NT END=113278798;NT GT ./. 2 113278191 rs62157539 A T 22 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5567,T/0.4433;NP=39;PC=0.001;Gene=TTL/NM_153712.4/1;CC=c.1019+189A>T;VC=Intron;DM=TTL/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:19:0:0:0:12,7:403,241:0.00,22.01:0.00,0.00:0.00,22.01:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.7,73.6:0,7:0,0:129,103:21,47:15,21:-,NM_153712.4(TTL) c.1019+189A>T:-,NOT_FOUND:-,NOT_FOUND 2 113278192 rs112395835 G GTA 20 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5563,GTA/0.4437;Gene=TTL/NM_153712.4/1;CC=c.1019+190_1019+191insTA;VC=Intron;DM=TTL/TTL;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTA:19:0:7:0:12,7:341,222:0.00,20.13:0.00,0.00:0.00,20.13:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.7,73.6:0,0:0,0:130,104:20,46:15,21:-,NM_153712.4(TTL) c.1019+190_1019+191insTA:-,NOT_FOUND:-,NOT_FOUND 2 113278193 rs74355047 G A 20 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5563,A/0.4437,T/.;DB;DBA=NA;PAF=NA;Gene=TTL/NM_153712.4/1;CC=c.1019+191G>A;VC=Intron;DM=TTL/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:0:0:0:7,12:225,398:20.41,0.00:0.00,0.00:20.41,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:73.6,4.7:7,0:0,0:107,131:43,19:21,15:NM_153712.4(TTL) c.1019+191G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 113278311 rs34082454 C A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5609,A/0.4391;Gene=TTL/NM_153712.4/1;CC=c.1019+309C>A;VC=Intron;DM=TTL/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:6:1:0:0:4,2:130,66:13.25,0.00:3.80,0.00:9.45,0.00:0.93,0.00:0.78,0.00:0.99,0.00:60,60:35.5,0.0:0,0:0,0:88,146:62,5:16,0:NM_153712.4(TTL) c.1019+309C>A,-:0.43,-:NOT_FOUND,- 2 113278919 . G . . NT END=113286257;NT GT ./. 2 113286373 . C . . NT END=113299728;NT GT ./. 2 113286562 rs1561265 A G 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.03514,G/0.9649;PC=0.001;Gene=TTL/NM_153712.4/1;CC=c.*190A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:C,G:11:0:0:0:1,10:10,307:0.53,35.01:0.00,0.00:0.53,35.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:30.0,39.2:0,0:0,0:92,114:59,34:0,27:NM_153712.4(TTL) c.=,NM_153712.4(TTL) c.=:0.97,0.97:NOT_FOUND,NOT_FOUND 2 113300249 . G . . NT END=113304588;NT GT ./. 2 113300330 rs4849071 G A 91 nt VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.2989,A/0.7011;Gene=POLR1B/NM_001137604.2/0;CC=c.177+82G>A;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.177+82G>A;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.-9+82G>A;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.-333+82G>A;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.-170+82G>A;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.177+82G>A;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.291+82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:17:0:0:33,39:974,1298:91.48,0.00:17.46,0.00:74.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.9,7.2:0,0:0,0:98,103:52,48:34,25:NM_019014.4(POLR1B) c.177+82G>A,-:0.69,-:NOT_FOUND,- 2 113300394 rs4849072 A C 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5224,C/0.4776;Gene=POLR1B/NM_001137604.2/0;CC=c.177+146A>C;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.177+146A>C;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.-9+146A>C;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.-333+146A>C;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.-170+146A>C;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.177+146A>C;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.291+146A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:0:0:0:19,21:639,534:0.00,51.14:0.00,0.00:0.00,51.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.5,65.9:0,0:0,0:114,86:37,64:26,31:-,NM_019014.4(POLR1B) c.177+146A>C:-,0.48:-,NOT_FOUND 2 113304757 . G . . NT END=113304997;NT GT ./. 2 113305145 . G . . NT END=113306843;NT GT ./. 2 113305150 rs11123139 G C 110 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.5066,C/0.4934;Gene=POLR1B/NM_001137604.2/0;CC=c.324+6G>C;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.492+6G>C;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.-8-3293G>C;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.75+6G>C;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.75+6G>C;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.492+6G>C;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.606+6G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:52:32:0:0:33,19:1092,671:110.06,0.00:35.05,0.00:75.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,0.7:0,0:0,0:102,107:49,40:24,26:NM_019014.4(POLR1B) c.492+6G>C,-:0.49,-:0.578579,- 2 113306977 . G . . NT END=113308442;NT GT ./. 2 113307076 rs34591927 CT C 11 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=8;PC=0.002;Gene=POLR1B/NM_001137604.2/0;CC=c.457+117delT;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.625+117delT;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.-8-1350delT;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.208+117delT;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.208+117delT;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.625+117delT;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.739+117delT;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:CT,T,I,C:18:3:1:5:12,1,1,4:345,10,25,158:0.00,0.09,1.43,10.78:0.00,-0.06,-0.06,-0.25:0.00,0.15,1.48,11.03:0.00,0.00,0.00,0.72:0.00,0.00,0.00,0.55:0.00,0.00,0.00,0.96:60,60,60,70:17.4,40.0,197.0,31.0:0,0,0,1:0,0,0,0:133,93,70,125:18,57,80,26:9,0,0,7:-,NM_019014.4(POLR1B) c.625+101delT:-,NOT_FOUND:-,NOT_FOUND 2 113307115 rs11675730 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4355,T/0.5645;Gene=POLR1B/NM_001137604.2/0;CC=c.457+139C>T;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.625+139C>T;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.-8-1328C>T;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.208+139C>T;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.208+139C>T;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.625+139C>T;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.739+139C>T;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,T:10:0:0:0:6,4:184,138:0.00,12.79:0.00,0.00:0.00,12.79:0.00,0.84:0.00,0.00:0.00,0.84:60,60:24.5,84.0:0,0:0,0:80,92:71,58:33,13:-,NM_019014.4(POLR1B) c.625+139C>T:-,0.55:-,NOT_FOUND 2 113308516 rs2304555 T A 74 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.4459,A/0.5541;Gene=POLR1B/NM_001137604.2/0;CC=c.531T>A;ProtCh=p.T177=;VC=Silent;Gene=POLR1B/NM_001282774.1/0;CC=c.699T>A;ProtCh=p.T233=;VC=Silent;Gene=POLR1B/NM_001282776.1/0;CC=c.66T>A;ProtCh=p.T22=;VC=Silent;Gene=POLR1B/NM_001282777.1/0;CC=c.282T>A;ProtCh=p.T94=;VC=Silent;Gene=POLR1B/NM_001282779.1/0;CC=c.282T>A;ProtCh=p.T94=;VC=Silent;Gene=POLR1B/NM_019014.5/0;CC=c.699T>A;ProtCh=p.T233=;VC=Silent;Gene=POLR1B/NM_001282772.1/1;CC=c.813T>A;ProtCh=p.T271=;VC=Silent;DM=POLR1B/RNA_pol_Rpb2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:56:40:0:0:23,1,32:795,11,1099:74.23,-0.05,0.00:34.54,0.08,0.00:39.70,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.7,43.0,5.7:0,0,0:0,0,0:96,38,82:55,113,62:22,0,42:NM_019014.4(POLR1B) c.699T>A (p.(=)),-:0.54,-:0.678379,- 2 113308580 . G . . NT END=113309351;NT GT ./. 2 113308622 rs3816140 C T 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4469,T/0.5531;Gene=POLR1B/NM_001137604.2/0;CC=c.594+43C>T;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.762+43C>T;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.129+43C>T;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.345+43C>T;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.345+43C>T;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.762+43C>T;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.876+43C>T;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:10:0:0:13,14:410,441:0.00,42.66:0.00,8.07:0.00,34.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,55.0:0,0:0,0:111,80:39,67:26,18:-,NM_019014.4(POLR1B) c.762+43C>T:-,0.54:-,0.677764 2 113308795 rs7568539 C G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5066,G/0.4934;Gene=POLR1B/NM_001137604.2/0;CC=c.594+216C>G;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.762+216C>G;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.129+216C>G;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.345+216C>G;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.345+216C>G;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.762+216C>G;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.876+216C>G;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,G:6:0:0:0:2,4:48,137:0.00,13.97:0.00,0.00:0.00,13.97:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,40.8:0,0:0,0:41,114:108,36:3,7:-,NM_019014.4(POLR1B) c.762+216C>G:-,0.49:-,NOT_FOUND 2 113309473 rs1545133 C T 57 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.5517,T/0.4483;Gene=POLR1B/NM_001137604.2/0;CC=c.716C>T;ProtCh=p.S239L;VC=Missense;Gene=POLR1B/NM_001282774.1/0;CC=c.884C>T;ProtCh=p.S295L;VC=Missense;Gene=POLR1B/NM_001282776.1/0;CC=c.251C>T;ProtCh=p.S84L;VC=Missense;Gene=POLR1B/NM_001282777.1/0;CC=c.467C>T;ProtCh=p.S156L;VC=Missense;Gene=POLR1B/NM_001282779.1/0;CC=c.467C>T;ProtCh=p.S156L;VC=Missense;Gene=POLR1B/NM_019014.5/0;CC=c.884C>T;ProtCh=p.S295L;VC=Missense;Gene=POLR1B/NM_001282772.1/1;CC=c.998C>T;ProtCh=p.S333L;VC=Missense;DM=POLR1B/RNA_pol_Rpb2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:35:0:0:32,19:959,627:0.00,57.16:0.00,27.93:0.00,29.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,39.0:0,0:0,0:56,50:89,87:37,38:-,NM_019014.4(POLR1B) c.884C>T (p.Ser295Leu):-,0.46:-,0.535676 2 113309576 . G . . NT END=113310221;NT GT ./. 2 113310197 rs536740541 CT C 78 rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=390;PC=0.012;Gene=POLR1B/NM_001137604.2/0;CC=c.819-13delT;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.987-13delT;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.354-13delT;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.570-13delT;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.570-13delT;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.987-13delT;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.1101-13delT;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1;DM=POLR1B/RNA_pol_Rpb2_2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,I,C:49:40:1:26:1,22,1,25:34,683,33,833:1.99,0.00,1.89,78.00:0.96,0.00,1.95,50.27:1.03,0.00,-0.06,27.74:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:34.0,5.1,29.0,18.8:0,0,0,1:0,0,0,0:76,46,49,67:50,93,102,78:0,30,0,21:-,NM_019014.4(POLR1B) c.987-24delT:-,NOT_FOUND:-,NOT_FOUND 2 113310394 . G . . NT END=113315486;NT GT ./. 2 113315659 . G . . NT END=113316869;NT GT ./. 2 113315735 rs57858974 CT C 21 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CT/0.6192,C/0.3808;NP=1822;PC=0.006;Gene=POLR1B/NM_001137604.2/0;CC=c.1162+82delT;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.1158+5347delT;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.697+82delT;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.913+82delT;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.913+82delT;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.1330+82delT;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.1444+82delT;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1;DM=POLR1B/RNA_pol_Rpb2_2;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:16:2:0:7:9,7:298,225:0.00,21.08:0.00,-0.25:0.00,21.33:0.00,0.98:0.00,0.74:0.00,0.98:60,60:1.2,4.3:0,0:0,0:120,98:31,52:29,14:-,NM_019014.4(POLR1B) c.1330+78delT:-,0.37:-,NOT_FOUND 2 113317152 . G . . NT END=113321942;NT GT ./. 2 113317353 rs3789723 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.65,A/0.35;Gene=POLR1B/NM_001137604.2/0;CC=c.1444+202G>A;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.1159-4590G>A;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.979+202G>A;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.1195+202G>A;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.1195+202G>A;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.1612+202G>A;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.1726+202G>A;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:16:0:0:0:9,6,1:243,205,10:24.15,0.00,0.25:0.00,0.00,0.00:24.15,0.00,0.25:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:53.7,7.8,127.0:0,0,0:0,0,0:130,123,94:20,27,31:5,12,0:NM_019014.4(POLR1B) c.1612+202G>A,-:0.35,-:NOT_FOUND,- 2 113321900 rs41280572 T C 81 nt VT=SNV;PN=A;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.6713,C/0.3287;Gene=POLR1B/NM_001137604.2/0;CC=c.1445-43T>C;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.1159-43T>C;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.980-43T>C;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.1196-43T>C;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.1196-43T>C;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.1613-43T>C;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.1727-43T>C;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:64:0:0:28,43:884,1375:81.07,0.00:69.87,0.00:11.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,10.1:0,0:0,0:49,43:99,106:26,24:NM_019014.4(POLR1B) c.1613-43T>C,-:0.33,-:0.365062,- 2 113322077 . G . . NT END=113325543;NT GT ./. 2 113325715 . G . . NT END=113326322;NT GT ./. 2 113326281 rs6746874 C G 57 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.229,G/0.771;Gene=POLR1B/NM_001137604.2/0;CC=c.1750-42C>G;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.1369-42C>G;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.1285-42C>G;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.1501-42C>G;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.1501-42C>G;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.1918-42C>G;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.2032-42C>G;VC=Intron;DM=POLR1B/RNA_pol_Rpb2_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:38:38:0:0:20,18:652,594:0.00,56.54:0.00,50.30:0.00,6.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,45.6:0,0:0,0:37,23:107,119:20,15:-,NM_019014.4(POLR1B) c.1918-42C>G:-,0.75:-,0.823159 2 113326480 . G . . NT END=113330138;NT GT ./. 2 113326502 rs13010814 C T 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.2292,T/0.7708;Gene=POLR1B/NM_001137604.2/0;CC=c.1906+23C>T;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.1525+23C>T;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.1441+23C>T;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.1657+23C>T;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.1657+23C>T;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.2074+23C>T;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.2188+23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:55:18:0:0:32,1,22:1071,16,726:0.00,0.24,67.25:0.00,-0.05,17.81:0.00,0.28,49.45:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.3,114.0,37.6:0,0,0:0,0,0:74,149,82:66,-3,69:34,0,39:-,NM_019014.4(POLR1B) c.2074+23C>T:-,0.75:-,0.822851 2 113330336 . G . . NT END=113331138;NT GT ./. 2 113331393 . G . . NT END=113332423;NT GT ./. 2 113332300 rs61116291 TA T 9 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=POLR1B/NM_001137604.2/0;CC=c.2358-102delA;VC=Intron;Gene=POLR1B/NM_001282774.1/0;CC=c.1977-102delA;VC=Intron;Gene=POLR1B/NM_001282776.1/0;CC=c.1893-102delA;VC=Intron;Gene=POLR1B/NM_001282777.1/0;CC=c.2109-102delA;VC=Intron;Gene=POLR1B/NM_001282779.1/0;CC=c.2109-102delA;VC=Intron;Gene=POLR1B/NM_019014.5/0;CC=c.2526-102delA;VC=Intron;Gene=POLR1B/NM_001282772.1/1;CC=c.2640-102delA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:TA,I,T:10:12:1:5:6,1,3:172,33,163:0.00,2.47,8.68:0.00,2.47,8.68:0.00,0.00,0.00:0.00,0.00,0.59:0.00,0.00,0.59:0.00,0.00,0.00:60,60,60:62.8,0.0,37.7:0,0,2:0,0,0:64,123,32:85,28,119:26,0,8:-,NM_019014.4(POLR1B) c.2526-123delA:-,NOT_FOUND:-,NOT_FOUND 2 113333307 . C . . NT END=113342224;NT GT ./. 2 113342227 . G . . NT END=113343550;NT GT ./. 2 113343480 rs3838313 TA T 14 idl,rn VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=18;PC=0.008;Gene=CHCHD5/NM_001304353.1/0;CC=c.-112-57delA;VC=Intron;Gene=CHCHD5/NM_032309.3/1;CC=c.3-57delA;VC=Intron;Gene=CHCHD5/NM_001304354.1/0;CC=c.-112-57delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:TA,I,T:61:56:5:7:50,5,6:1514,151,227:0.00,10.21,13.98:0.00,8.02,14.53:0.00,2.18,-0.55:0.00,0.00,0.99:0.00,0.00,0.98:0.00,0.00,0.78:60,60,60:36.2,13.8,1.5:0,0,1:0,0,0:23,34,48:128,117,103:17,5,13:-,NM_032309.2(CHCHD5) c.3-70delA:-,NOT_FOUND:-,NOT_FOUND 2 113343488 rs3789722 A T 106 nt VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.6462,T/0.3538;Gene=CHCHD5/NM_001304353.1/0;CC=c.-112-63A>T;VC=Intron;Gene=CHCHD5/NM_032309.3/1;CC=c.3-63A>T;VC=Intron;Gene=CHCHD5/NM_001304354.1/0;CC=c.-112-63A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:68:61:0:0:33,35:1055,1102:0.00,106.41:0.00,82.72:0.00,23.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.6,40.8:1,0:0,0:42,26:109,122:29,12:-,NM_032309.2(CHCHD5) c.3-63A>T:-,0.35:-,NOT_FOUND 2 113343692 . G . . NT END=113343776;NT GT ./. 2 113344011 . g . . NT END=113346442;NT GT ./. 2 113344047 rs752992 T C 75 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.2312,C/0.7688;Gene=CHCHD5/NM_001304353.1/0;CC=c.195+105T>C;VC=Intron;Gene=CHCHD5/NM_032309.3/1;CC=c.309+105T>C;VC=Intron;Gene=CHCHD5/NM_001304354.1/0;CC=c.195+105T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:6:0:0:24,21:768,686:74.74,0.00:8.66,0.00:66.08,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:45.4,10.0:0,0:0,0:101,114:45,36:31,21:NM_032309.2(CHCHD5) c.309+105T>C,-:0.74,-:NOT_FOUND,- 2 113346413 rs3748024 C G 49 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.7181,G/0.2819;Gene=CHCHD5/NM_001304353.1/0;CC=c.196-30C>G;VC=Intron;Gene=CHCHD5/NM_032309.3/1;CC=c.310-30C>G;VC=Intron;Gene=CHCHD5/NM_001304354.1/0;CC=c.196-30C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:38:32:0:0:21,17:728,526:0.00,49.35:0.00,30.67:0.00,18.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,48.1:0,0:0,0:53,55:84,94:33,29:-,NM_032309.2(CHCHD5) c.310-30C>G:-,0.29:-,0.363909 2 113346467 . G . . NT END=113404405;NT GT ./. 2 113346512 rs1047652 A C 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.2406,C/0.7594;Gene=CHCHD5/NM_001304353.1/0;CC=c.*46A>C;VC=3UTR;Gene=CHCHD5/NM_032309.3/1;CC=c.*46A>C;VC=3UTR;Gene=CHCHD5/NM_001304354.1/0;CC=c.*46A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:18:0:0:16,16:495,437:0.00,41.66:0.00,11.30:0.00,30.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,59.0:0,0:0,0:83,97:67,46:29,38:-,NM_032309.2(CHCHD5) c.=:-,0.73:-,0.794941 2 113379340 rs555341942 T TG 51 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6591,TG/0.3409;NP=1955;PC=0.002;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:T,TG:18:15:15:0:3,15:81,469:0.00,50.53:0.00,32.24:0.00,18.29:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.0,11.5:2,0:0,0:98,30:51,120:51,22:-,chr2 g.113379340_113379341insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 113404708 rs4849091 G A 529 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.6394,A/0.3606;PC=0.997;Gene=SLC20A1/NM_005415.4/1;CC=c.303G>A;ProtCh=p.L101=;VC=Silent;DM=SLC20A1/PHO4;DM=SLC20A1/PHO4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:149:69:0:0:148,1:4591,18:528.97,0.36:181.79,0.00:347.18,0.36:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,28.0:0,0:0,0:90,124:59,27:25,0:NM_005415.4(SLC20A1) c.303G>A (p.(=)),NM_005415.4(SLC20A1) c.303G>A (p.(=)):0.36,0.36:0.440489,0.440489 2 113404740 . G . . NT END=113404900;NT GT ./. 2 113405042 . G . . NT END=113405229;NT GT ./. 2 113405316 . G . . NT END=113410278;NT GT ./. 2 113410376 . G . . NT END=113410465;NT GT ./. 2 113410525 . G . . NT END=113414698;NT GT ./. 2 113414819 . G . . NT END=113416401;NT GT ./. 2 113414986 rs3827758 A G 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6532,G/0.3468;PC=0.014;Gene=SLC20A1/NM_005415.4/1;CC=c.778+168A>G;VC=Intron;DM=SLC20A1/PHO4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:410:47.15:0.00:47.15:1.00:0.00:1.00:60:44.2:0:0:114:36:27:NM_005415.4(SLC20A1) c.778+168A>G,NM_005415.4(SLC20A1) c.778+168A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 2 113416672 . G . . NT END=113416780;NT GT ./. 2 113417340 . G . . NT END=113417963;NT GT ./. 2 113417566 rs4849093 T A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1783,A/0.8217;Gene=SLC20A1/NM_005415.4/1;CC=c.1607+227T>A;VC=Intron;DM=SLC20A1/PHO4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:1:0:0:6:189:21.76:3.38:18.38:1.00:1.00:1.00:60:40.7:0:0:94:56:14:NM_005415.4(SLC20A1) c.1607+227T>A,NM_005415.4(SLC20A1) c.1607+227T>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 113418150 . G . . NT END=113418718;NT GT ./. 2 113418276 rs5833454 A AGT 58 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.1775,AG/0.8225,AGT/.;NP=66;Gene=SLC20A1/NM_005415.4/1;CC=c.1793+127_1793+128insGT;VC=Intron;DM=SLC20A1/PHO4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T,AGT:18:0:17:0:1,17:33,507:2.53,58.38:0.00,0.00:2.53,58.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:140.0,45.0:1,0:0,0:114,73:37,78:0,51:NM_005415.4(SLC20A1) c.1793+127_1793+128insGT,NM_005415.4(SLC20A1) c.1793+127_1793+128insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 113418277 rs72611914 T G 61 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1775,TG/0.8225,TTG/.;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=SLC20A1/NM_005415.4/1;CC=c.1793+128T>G;VC=Intron;DM=SLC20A1/PHO4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:0:0:0:18:529:61.37:0.00:61.37:1.00:0.00:1.00:60:50.3:18:0:95:55:34:NM_005415.4(SLC20A1) c.1793+128T>G,NM_005415.4(SLC20A1) c.1793+128T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 113418428 rs4067423 T TCTTTA 21 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1775,TCTTT/.,TCTTTA/0.8225;NP=19;Gene=SLC20A1/NM_005415.4/1;CC=c.1793+282_1793+283insTACTT;VC=Intron;DM=SLC20A1/PHO4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T,TCTTTA:9:3:6:0:1,2,6:26,52,199:2.02,0.00,20.75:0.00,0.00,10.90:2.02,0.00,9.85:0.00,0.00,0.99:0.00,0.00,0.97:0.00,0.00,0.93:60,60,60:26.0,0.0,0.0:0,0,0:0,0,0:0,145,89:150,3,61:0,2,14:-,NM_005415.4(SLC20A1) c.1793+279_1793+280insCTTTA:-,0.82:-,NOT_FOUND 2 113418804 . G . . NT END=113420440;NT GT ./. 2 113420201 rs4848286 C T 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1781,T/0.8219;PC=0.003;Gene=SLC20A1/NM_005415.4/1;CC=c.1879-240C>T;VC=Intron;DM=SLC20A1/PHO4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G,T:8:8:0:0:1,7:9,221:0.54,25.03:0.54,25.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:154.0,37.1:0,0:0,0:42,20:109,131:0,19:NM_005415.4(SLC20A1) c.1879-240C>T,NM_005415.4(SLC20A1) c.1879-240C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 113420603 . A . . NT END=113496399;NT GT ./. 2 113480938 rs375796295 G GCACACA 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=10;NP=10;NP=3;NP=3;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,GCACACA:5:6:4:0:2,3:71,136:0.00,10.13:0.00,6.65:0.00,3.48:0.00,0.73:0.00,0.73:0.00,0.89:60,60:16.0,22.7:0,1:0,0:137,39:13,91:1,22:-,chr2 g.113480938_113480939insCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 113491746 rs150412692 A ATATATGTGTGTGTG 10 sb;idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=18;NP=2;NP=6;NP=7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:ATATATGTGTGTGTG:3:3:5:0:3:154:9.56:7.74:1.83:0.78:0.94:0.94:70:0.0:2:0:75:76:9:chr2 g.113491746_113491747insTATATGTGTGTGTG (intergenic),chr2 g.113491746_113491747insTATATGTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 113496626 . C . . NT END=113498394;NT GT ./. 2 113498566 rs3811040 A G 73 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5775,G/0.4225;Gene=CKAP2L/NM_001304361.1/0;CC=c.1346T>C;ProtCh=p.L449S;VC=Missense;Gene=CKAP2L/NM_152515.4/1;CC=c.1841T>C;ProtCh=p.L614S;VC=Missense;Gene=CKAP2L/NR_130712.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:15:0:0:19,24:590,749:0.00,73.47:0.00,17.46:0.00,56.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,51.8:0,0:0,0:80,103:69,47:25,24:-,NM_152515.3(CKAP2L) c.1841T>C (p.Leu614Ser):-,0.46:-,0.375903 2 113498585 . C . . NT END=113500282;NT GT ./. 2 113500347 . C . . NT END=113503996;NT GT ./. 2 113503830 rs6542088 C T 51 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.03614,T/0.9639;Gene=CKAP2L/NM_001304361.1/0;CC=c.1263+167G>A;VC=Intron;Gene=CKAP2L/NM_152515.4/1;CC=c.1758+167G>A;VC=Intron;Gene=CKAP2L/NR_130712.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:441:51.20:51.20:0.00:1.00:1.00:0.00:60:46.9:0:0:90:61:39:NM_152515.3(CKAP2L) c.1758+167G>A,NM_152515.3(CKAP2L) c.1758+167G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 113504153 . C . . NT END=113509843;NT GT ./. 2 113510052 . C . . NT END=113513553;NT GT ./. 2 113513504 rs4848298 A G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5777,G/0.4223;PC=0.008;Gene=CKAP2L/NM_001304361.1/0;CC=c.899+50T>C;VC=Intron;Gene=CKAP2L/NM_152515.4/1;CC=c.1394+50T>C;VC=Intron;Gene=CKAP2L/NR_130712.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:35:0:0:21,19:664,514:0.00,48.34:0.00,32.83:0.00,15.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.0,48.5:0,0:0,0:45,60:106,91:30,23:-,NM_152515.3(CKAP2L) c.1394+50T>C:-,0.46:-,0.375827 2 113513825 rs6731822 T C 333 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.03614,C/0.9639,G/.;Gene=CKAP2L/NM_001304361.1/0;CC=c.628A>G;ProtCh=p.I210V;VC=Missense;Gene=CKAP2L/NM_152515.4/1;CC=c.1123A>G;ProtCh=p.I375V;VC=Missense;Gene=CKAP2L/NR_130712.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:98:55:0:0:1,96,1:11,2892,11:0.13,333.39,0.13:0.00,166.36,0.13:0.13,167.04,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:106.0,38.2,62.0:0,0,0:0,0,0:48,82,7:99,64,144:0,45,0:NM_152515.3(CKAP2L) c.1123A>G (p.Ile375Val),NM_152515.3(CKAP2L) c.1123A>G (p.Ile375Val):0.97,0.97:0.940181,0.940181 2 113514792 . C . . NT END=113518289;NT GT ./. 2 113514883 rs11311327 AT A 55 nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=AT/0.515,A/0.485,AA/.;Gene=CKAP2L/NM_001304361.1/0;CC=c.-280-152delA;VC=Intron;Gene=CKAP2L/NM_152515.4/1;CC=c.157-93delA;VC=Intron;Gene=CKAP2L/NR_130712.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:33:7:0:18:15,18:459,561:0.00,54.81:0.00,5.90:0.00,48.91:0.00,1.00:0.00,0.99:0.00,1.00:60,60:19.7,16.8:0,0:0,0:102,91:49,58:30,19:-,NM_152515.3(CKAP2L) c.157-93delA:-,0.47:-,NOT_FOUND 2 113514962 rs369509661 G GTT 9 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=CKAP2L/NM_001304361.1/0;CC=c.-280-231_-280-230insAA;VC=Intron;Gene=CKAP2L/NM_152515.4/1;CC=c.157-172_157-171insAA;VC=Intron;Gene=CKAP2L/NR_130712.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:G,T,GTT:10:0:4:0:6,1,3:179,10,132:0.00,0.28,8.81:0.00,0.00,0.00:0.00,0.28,8.81:0.00,0.00,0.60:0.00,0.00,0.00:0.00,0.00,0.60:60,60,60:56.0,29.0,56.7:0,0,1:0,0,0:132,66,111:17,40,39:9,0,7:-,NM_152515.3(CKAP2L) c.157-172_157-171insAA:-,NOT_FOUND:-,NOT_FOUND 2 113518342 . C . . NT END=113520079;NT GT ./. 2 113520147 . C . . NT END=113522138;NT GT ./. 2 113522176 . G . . NT END=113532643;NT GT ./. 2 113532845 . C . . NT END=113535563;NT GT ./. 2 113532885 rs3783550 G T 115 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.3796,T/0.6204;Gene=IL1A/NM_000575.3/1;CC=c.616-41C>A;VC=Intron;DM=IL1A/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:T:32:8:0:0:32:998:114.99:19.62:95.36:1.00:1.00:1.00:60:36.6:0:0:99:48:23:NM_000575.3(IL1A) c.616-41C>A,NM_000575.3(IL1A) c.616-41C>A:0.58,0.58:0.725896,0.725896 2 113535395 rs2071376 G T 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3796,A/.,T/0.6204;PC=0.002;Gene=IL1A/NM_000575.3/1;CC=c.615+169C>A;VC=Intron;DM=IL1A/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:364:41.65:41.65:0.00:1.00:1.00:0.00:60:65.2:0:0:46:104:27:NM_000575.3(IL1A) c.615+169C>A,NM_000575.3(IL1A) c.615+169C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 113535438 rs2071375 C T 59 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7825,T/0.2175;Gene=IL1A/NM_000575.3/1;CC=c.615+126G>A;VC=Intron;DM=IL1A/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:19:0:0:19:503:59.20:57.31:1.89:1.00:1.00:1.00:60:58.2:0:0:58:92:23:NM_000575.3(IL1A) c.615+126G>A,NM_000575.3(IL1A) c.615+126G>A:0.2,0.2:NOT_FOUND,NOT_FOUND 2 113535540 rs56107760 A C 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=4;Gene=IL1A/NM_000575.3/1;CC=c.615+24T>G;VC=Intron;DM=IL1A/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:36:0:0:24,18:793,557:0.00,51.81:0.00,33.58:0.00,18.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,43.2:0,0:0,0:58,54:85,79:26,36:-,NM_000575.3(IL1A) c.615+24T>G:-,NOT_FOUND:-,0.001461 2 113535689 . C . . NT END=113537072;NT GT ./. 2 113535770 rs370079314 GGT G 19 idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=GGT/0.623,G/0.377;DB;DBA=NA;PAF=GGT/0.623,G/0.377;NP=6;PC=0.027;Gene=IL1A/NM_000575.3/1;CC=c.491-84_491-83delAC;VC=Intron;DM=IL1A/IL1;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGT,G:17:11:0:11:10,7:308,308:0.00,19.28:0.00,8.38:0.00,10.91:0.00,0.97:0.00,0.98:0.00,0.99:60,60:4.3,33.9:0,3:0,0:136,47:15,104:7,27:-,NM_000575.3(IL1A) c.491-84_491-83delAC:-,NOT_FOUND:-,NOT_FOUND 2 113537223 rs17561 C A 186 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.7825,A/0.2175;PC=0.010;Gene=IL1A/NM_000575.3/1;CC=c.340G>T;ProtCh=p.A114S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:A:49:24:0:0:49:1631:186.47:61.08:125.39:1.00:1.00:1.00:60:40.7:0:0:84:67:36:NM_000575.3(IL1A) c.340G>T (p.Ala114Ser),NM_000575.3(IL1A) c.340G>T (p.Ala114Ser):0.2,0.2:0.261648,0.261648 2 113537244 . C . . NT END=113539180;NT GT ./. 2 113537339 rs2856841 A G 66 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7977,G/0.2023;Gene=IL1A/NM_000575.3/1;CC=c.320-96T>C;VC=Intron;DM=IL1A/IL1_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:2:0:0:18:575:66.05:5.87:60.18:1.00:1.00:1.00:60:56.1:0:0:94:57:36:NM_000575.3(IL1A) c.320-96T>C,NM_000575.3(IL1A) c.320-96T>C:0.19,0.19:NOT_FOUND,NOT_FOUND 2 113539404 . C . . NT END=113540292;NT GT ./. 2 113540177 rs1894399 C T 25 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7196,T/0.2804;Gene=IL1A/NM_000575.3/1;CC=c.96+116G>A;VC=Intron;DM=IL1A/IL1_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,T:8:8:0:0:1,7:34,233:0.00,25.33:0.00,25.78:0.00,-0.45:0.00,1.00:0.00,1.00:0.00,0.92:60,60:34.0,66.6:0,0:0,0:53,63:97,88:0,16:-,NM_000575.3(IL1A) c.96+116G>A:-,0.25:-,NOT_FOUND 2 113540205 rs1609682 G T 59 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3796,T/0.6204;Gene=IL1A/NM_000575.3/1;CC=c.96+88C>A;VC=Intron;DM=IL1A/IL1_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:15:0:0:16:513:58.93:49.74:9.19:1.00:1.00:1.00:60:56.1:0:0:33:111:28:NM_000575.3(IL1A) c.96+88C>A,NM_000575.3(IL1A) c.96+88C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 113540342 . C . . NT END=113541300;NT GT ./. 2 113541348 . C . . NT END=113587937;NT GT ./. 2 113588151 . C . . NT END=113588868;NT GT ./. 2 113588302 rs1143643 C T 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7123,T/0.2877;Gene=IL1B/NM_000576.2/1;CC=c.598-152G>A;VC=Intron;DM=IL1B/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:10:0:0:0:5,5:128,172:0.00,16.58:0.00,0.00:0.00,16.58:0.00,0.95:0.00,0.00:0.00,0.95:60,60:7.0,40.6:0,0:0,0:115,97:36,54:22,22:-,NM_000576.2(IL1B) c.598-152G>A:-,0.33:-,NOT_FOUND 2 113588755 rs1143640 CAA C 29 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=CAA/0.865,C/0.135;NP=1307;Gene=IL1B/NM_000576.2/1;CC=c.597+112_597+113delTT;VC=Intron;DM=IL1B/IL1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,C:28:28:0:10:18,10:607,318:0.00,28.65:0.00,28.65:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:2.3,25.6:0,0:0,0:47,47:103,103:14,15:-,NM_000576.2(IL1B) c.597+112_597+113delTT:-,0.15:-,NOT_FOUND 2 113588793 rs1143639 C T 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.865,T/0.135;Gene=IL1B/NM_000576.2/1;CC=c.597+76G>A;VC=Intron;DM=IL1B/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:36:35:0:0:22,1,13:777,10,374:0.00,-0.03,33.55:0.00,-0.00,26.96:0.00,-0.03,6.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:3.4,34.0,30.2:0,0,0:0,0,0:74,8,67:77,143,80:24,0,31:-,NM_000576.2(IL1B) c.597+76G>A:-,0.15:-,NOT_FOUND 2 113589000 . C . . NT END=113590238;NT GT ./. 2 113590390 rs1143634 G A 107 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.8672,A/0.1328;Gene=IL1B/NM_000576.2/1;CC=c.315C>T;ProtCh=p.F105=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:34:0:0:36,33:1108,1069:107.22,0.00:21.96,0.00:85.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,16.5:0,0:0,0:92,94:54,52:27,32:NM_000576.2(IL1B) c.315C>T (p.(=)),-:0.15,-:0.204213,- 2 113590404 . C . . NT END=113590950;NT GT ./. 2 113590467 rs1143633 C T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.6891,T/0.3109;Gene=IL1B/NM_000576.2/1;CC=c.302-64G>A;VC=Intron;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:6:0:0:18,15:523,460:0.00,43.29:0.00,10.99:0.00,32.30:0.00,1.00:0.00,0.96:0.00,1.00:60,60:35.8,42.7:0,0:0,0:105,105:46,45:24,28:-,NM_000576.2(IL1B) c.302-64G>A:-,0.35:-,NOT_FOUND 2 113591153 . C . . NT END=113593142;NT GT ./. 2 113591275 rs3136558 A G 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7642,G/0.2358;Gene=IL1B/NM_000576.2/1;CC=c.100-123T>C;VC=Intron;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:G,T:17:0:0:0:16,1:529,10:60.11,0.40:0.00,0.00:60.11,0.40:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.4,138.0:0,0:0,0:103,105:48,42:24,0:NM_000576.2(IL1B) c.100-123T>C,NM_000576.2(IL1B) c.100-123T>C:0.26,0.26:NOT_FOUND,NOT_FOUND 2 113591342 rs3136557 G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9135,A/0.08646,T/.;Gene=IL1B/NM_000576.2/1;CC=c.100-190C>T;VC=Intron;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:7:0:0:0:5,2:137,64:14.24,0.00:0.00,0.00:14.24,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:75.8,116.5:0,0:0,0:103,63:48,86:43,45:NM_000576.2(IL1B) c.100-190C>T,-:0.1,-:NOT_FOUND,- 2 113592892 rs397841817 GA G 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GA/0.8876,G/0.1124;DB;DBA=NA;PAF=GA/0.8876,G/0.1124;NP=140;Gene=IL1B/NM_000576.2/1;CC=c.99+250delT;VC=Intron;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:GA,G:5:5:0:4:1,4:29,130:0.00,13.82:0.00,13.82:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,5.8:0,0:0,0:0,45:150,104:0,11:-,NM_000576.2(IL1B) c.99+250delT:-,0.13:-,NOT_FOUND 2 113593195 . C . . NT END=113593759;NT GT ./. 2 113593518 rs1143629 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4874,A/0.5126;Gene=IL1B/NM_000576.2/1;CC=c.47+242C>T;VC=Intron;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep;DM=IL1B/IL1_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:43.0:0:0:33:115:8:NM_000576.2(IL1B) c.47+242C>T,NM_000576.2(IL1B) c.47+242C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 2 113593807 . G . . NT END=113670589;NT GT ./. 2 113610950 . TCATC T 15 rn VT=DEL;SST=Single;DP=14;NP=126;PC=0.715;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:TCATC,T:13:13:0:6:8,5:221,181:0.00,14.62:0.00,14.62:0.00,0.00:0.00,0.90:0.00,0.99:0.00,0.57:60,60:25.0,12.6:0,1:0,0:103,51:46,99:26,19:-,chr2 g.113610951_113610954delCATC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 113670672 . G . . NT END=113671368;NT GT ./. 2 113670834 rs3811042 G A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6695,A/0.3305;Gene=IL37/NM_014439.3/1;CC=c.82+163G>A;VC=Intron;Gene=IL37/NM_173202.1/0;CC=c.82+163G>A;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.82+163G>A;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.82+163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,C,G:6:0:0:0:3,1,2:106,9,66:10.53,0.48,0.00:0.00,0.00,0.00:10.53,0.48,0.00:0.73,0.00,0.00:0.00,0.00,0.00:0.73,0.00,0.00:60,60,60:68.0,125.0,0.0:0,0,0:0,0,0:24,147,74:127,4,76:13,0,38:NM_014439.3(IL37) c.82+163G>A,-:0.37,-:NOT_FOUND,- 2 113671303 rs3811045 T C 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.399,C/0.601;Gene=IL37/NM_014439.3/1;CC=c.83-66T>C;VC=Intron;Gene=IL37/NM_173202.1/0;CC=c.82+632T>C;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.82+632T>C;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.83-66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:27:0:0:10,20:333,694:29.78,0.00:25.36,0.00:4.42,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:74.2,4.8:0,0:0,0:50,57:101,93:16,28:NM_014439.3(IL37) c.83-66T>C,-:0.64,-:NOT_FOUND,- 2 113671378 rs3811046 G T 78 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.4,T/0.6;PC=0.016;Gene=IL37/NM_014439.3/1;CC=c.92G>T;ProtCh=p.G31V;VC=Missense;Gene=IL37/NM_173202.1/0;CC=c.82+707G>T;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.82+707G>T;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.92G>T;ProtCh=p.G31V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:56:46:0:0:1,29,26:10,912,821:-0.06,0.00,78.00:-0.13,0.00,51.62:0.06,0.00,26.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:100.0,4.0,72.5:0,0,0:0,0,0:23,71,65:127,64,83:0,27,25:-,NM_014439.3(IL37) c.92G>T (p.Gly31Val):-,0.63:-,0.562356 2 113671410 rs3811047 A G 77 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.3826,G/0.6174;Gene=IL37/NM_014439.3/1;CC=c.124A>G;ProtCh=p.T42A;VC=Missense;Gene=IL37/NM_173202.1/0;CC=c.82+739A>G;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.82+739A>G;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.124A>G;ProtCh=p.T42A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:54:38:0:0:28,1,25:894,11,812:0.00,-0.02,77.21:0.00,-0.10,44.24:0.00,0.08,32.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.4,76.0,77.7:0,0,0:0,0,0:84,56,69:47,95,77:41,0,28:-,NM_014439.3(IL37) c.124A>G (p.Thr42Ala):-,0.65:-,0.572582 2 113671432 . G . . NT END=113672769;NT GT ./. 2 113671518 rs3811048 G A 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.402,A/0.598;PC=0.001;Gene=IL37/NM_014439.3/1;CC=c.145+87G>A;VC=Intron;Gene=IL37/NM_173202.1/0;CC=c.82+847G>A;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.82+847G>A;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.145+87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:4:0:0:15,10:497,305:49.53,0.00:2.16,0.00:47.37,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:71.9,5.7:0,0:0,0:130,115:21,36:17,11:NM_014439.3(IL37) c.145+87G>A,-:0.63,-:NOT_FOUND,- 2 113672509 rs2723176 A C 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.142,C/0.858;Gene=IL37/NM_014439.3/1;CC=c.145+1078A>C;VC=Intron;Gene=IL37/NM_173202.1/0;CC=c.82+1838A>C;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.82+1838A>C;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.145+1078A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:206:23.46:23.46:0.00:1.00:1.00:0.00:60:38.5:0:0:33:118:27:NM_014439.3(IL37) c.145+1078A>C,NM_014439.3(IL37) c.145+1078A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 113672837 . G . . NT END=113674705;NT GT ./. 2 113674826 . G . . NT END=113675211;NT GT ./. 2 113675080 rs2723186 A G 96 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.1422,G/0.8578;Gene=IL37/NM_014439.3/1;CC=c.266-132A>G;VC=Intron;Gene=IL37/NM_173202.1/0;CC=c.203-132A>G;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.83-132A>G;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.146-132A>G;VC=Intron;Gene=IL37/NM_173205.1/0;CC=c.188-132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:75:G:29:25:0:0:29:820:95.55:77.31:18.23:1.00:1.00:1.00:60:46.7:0:0:47:101:34:NM_014439.3(IL37) c.266-132A>G,NM_014439.3(IL37) c.266-132A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 113675355 . G . . NT END=113676137;NT GT ./. 2 113675959 rs2723191 G T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1428,T/0.8572;PC=0.004;Gene=IL37/NM_014439.3/1;CC=c.409-179G>T;VC=Intron;Gene=IL37/NM_173202.1/0;CC=c.346-179G>T;VC=Intron;Gene=IL37/NM_173203.1/0;CC=c.226-179G>T;VC=Intron;Gene=IL37/NM_173204.1/0;CC=c.289-179G>T;VC=Intron;Gene=IL37/NM_173205.1/0;CC=c.331-179G>T;VC=Intron;DM=IL37/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:283:32.59:32.59:0.00:1.00:1.00:0.00:60:36.8:0:0:19:132:16:NM_014439.3(IL37) c.409-179G>T,NM_014439.3(IL37) c.409-179G>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 113676387 . G . . NT END=113736215;NT GT ./. 2 113676659 rs4611652 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2177,C/0.7823 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:44.2:0:0:121:28:15:chr2 g.113676658T>C (intergenic),chr2 g.113676658T>C (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 2 113687470 rs371591760 T G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=27;NP=4;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:G,T,I:7:4:2:0:5,1,1:173,33,61:18.24,0.00,2.52:7.55,0.00,1.34:10.69,0.00,1.18:0.97,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:60,60,60:54.8,12.0,13.0:0,0,1:0,0,0:134,53,25:17,95,125:6,0,3:chr2 g.113687469T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 113736271 . G . . NT END=113736797;NT GT ./. 2 113736903 . G . . NT END=113737585;NT GT ./. 2 113737726 . G . . NT END=113742416;NT GT ./. 2 113742627 . A . . NT END=113763448;NT GT ./. 2 113742734 rs7584409 G A 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.1336,A/0.8664;Gene=IL36G/NM_001278568.1/0;CC=c.*108G>A;VC=3UTR;Gene=IL36G/NM_019618.3/1;CC=c.*108G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:7,7:230,214:22.12,0.00:0.00,0.00:22.12,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:32.9,11.4:0,0:0,0:94,98:57,51:19,35:NM_019618.2(IL36G) c.*108G>A,-:0.84,-:NOT_FOUND,- 2 113753583 rs1374284 C T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3768,T/0.6232;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C,T:7:2:0:0:1,2,4:9,70,132:0.45,0.00,13.40:0.00,0.00,3.58:0.45,0.00,9.82:0.00,0.00,0.90:0.00,0.00,0.85:0.00,0.00,0.90:60,60,60:14.0,5.5,33.0:0,0,0:0,0,0:75,73,127:76,78,20:0,29,4:-,chr2 g.113753582C>T (intergenic):-,0.65:-,NOT_FOUND 2 113763459 . G . . NT END=113763550;NT GT ./. 2 113763463 rs2305152 A C 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.7151,C/0.2849,T/.;PC=0.485;Gene=IL36A/NM_014440.1/1;CC=c.10+5A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:64:51:0:0:34,30:1150,956:0.00,90.66:0.00,57.05:0.00,33.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,37.9:0,0:0,0:89,73:57,72:22,29:-,NM_014440.1(IL36A) c.10+5A>C:-,0.29:-,0.24046 2 113763575 rs895497 A G 73 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.1593,C/.,G/0.8407;Gene=IL36A/NM_014440.1/1;CC=c.35A>G;ProtCh=p.Q12R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:31:0:0:31,27:996,777:0.00,73.03:0.00,28.39:0.00,44.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.4,36.1:0,0:0,0:62,77:86,72:30,31:-,NM_014440.1(IL36A) c.35A>G (p.Gln12Arg):-,0.82:-,0.725041 2 113763665 . G . . NT END=113764174;NT GT ./. 2 113764315 . G . . NT END=113765408;NT GT ./. 2 113765622 . G . . NT END=113780250;NT GT ./. 2 113780355 . C . . NT END=113785009;NT GT ./. 2 113785020 rs12711747 A G 81 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.3175,G/0.6825;Gene=IL36B/NM_014438.4/1;CC=c.262-1211T>C;VC=Intron;Gene=IL36B/NM_173178.2/0;CC=c.*460T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:17:0:0:22:706:81.06:51.62:29.44:1.00:1.00:1.00:60:40.0:0:0:51:97:38:NM_014438.3(IL36B) c.262-1211T>C,NM_014438.3(IL36B) c.262-1211T>C:0.66,0.66:NOT_FOUND,NOT_FOUND 2 113785202 rs11673918 G A 277 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.4856,A/0.5144;PC=0.009;Gene=IL36B/NM_014438.4/1;CC=c.261+1314C>T;VC=Intron;Gene=IL36B/NM_173178.2/0;CC=c.*278C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:77:63:0:0:77:2400:276.60:180.99:95.61:1.00:1.00:1.00:60:38.7:0:0:76:74:28:NM_014438.3(IL36B) c.261+1314C>T,NM_014438.3(IL36B) c.261+1314C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 2 113785693 . C . . NT END=113786515;NT GT ./. 2 113785727 rs1562304 A G 125 nt VT=SNV;PN=G;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.01558,G/0.9844;Gene=IL36B/NM_014438.4/1;CC=c.261+789T>C;VC=Intron;Gene=IL36B/NM_173178.2/0;CC=c.262-35T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:12:0:0:33:1097:125.44:28.53:96.91:1.00:1.00:1.00:60:41.1:0:0:90:53:33:NM_014438.3(IL36B) c.261+789T>C,NM_014438.3(IL36B) c.261+789T>C:0.98,0.98:0.947923,0.947923 2 113785842 rs1006122 G C 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1388,C/0.8612;Gene=IL36B/NM_014438.4/1;CC=c.261+674C>G;VC=Intron;Gene=IL36B/NM_173178.2/0;CC=c.262-150C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:0:0:0:9:267:30.92:0.00:30.92:1.00:0.00:1.00:60:68.0:0:0:124:27:14:NM_014438.3(IL36B) c.261+674C>G,NM_014438.3(IL36B) c.261+674C>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 113786656 . C . . NT END=113788624;NT GT ./. 2 113786833 rs3948121 C G 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2408,G/0.7592;PC=0.064;Gene=IL36B/NM_014438.4/1;CC=c.122-178G>C;VC=Intron;Gene=IL36B/NM_173178.2/0;CC=c.122-178G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:378:43.52:0.00:43.52:1.00:0.00:1.00:60:51.8:0:0:122:29:17:NM_014438.3(IL36B) c.122-178G>C,NM_014438.3(IL36B) c.122-178G>C:0.75,0.75:NOT_FOUND,NOT_FOUND 2 113788733 . C . . NT END=113789273;NT GT ./. 2 113789287 . G . . NT END=113817015;NT GT ./. 2 113789316 rs2305150 C T 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3602,T/0.6398;Gene=IL36B/NM_014438.4/1;CC=c.-30G>A;VC=5UTR;Gene=IL36B/NM_173178.2/0;CC=c.-30G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:12:0:0:20:658:75.34:30.82:44.52:1.00:1.00:1.00:60:36.2:0:0:94:52:18:NM_014438.3(IL36B) c.-30G>A,NM_014438.3(IL36B) c.-30G>A:0.63,0.63:0.562202,0.562202 2 113789710 rs71960011 CTG C,CTGTG 10 sb;idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=35;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:CTG,CTGTG,C:5:6:4:1:1,3,1:33,131,34:0.00,9.83,3.02:0.00,8.34,1.51:0.00,1.49,1.51:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.96,0.00:60,70,60:79.0,26.3,0.0:0,1,0:0,0,0:124,24,64:22,91,46:0,16,0:NM_014438.3(IL36B) c.-57-369_-57-368delCA,NM_014438.3(IL36B) c.-57-369_-57-368dupCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 113801837 rs56838257 ATGTGTGTGTGTGTGTGTGTGTGTG A 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9;PC=0.003;Gene=IL36B/NM_014438.4/1;CC=c.-58+8533_-58+8556delCACACACACACACACACACACACA;VC=Intron;Gene=IL36B/NM_173178.2/0;CC=c.-58+8533_-58+8556delCACACACACACACACACACACACA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:ATGTGTGTGTGTGTGTGTGTGTGTG,A:3:3:0:3:1,2:34,97:0.00,6.35:0.00,3.02:0.00,3.33:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,27.5:0,1:0,0:116,39:23,96:0,10:-,NM_014438.3(IL36B) c.-58+8533_-58+8556delCACACACACACACACACACACACA:-,NOT_FOUND:-,NOT_FOUND 2 113801898 rs2034260 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4393,C/0.5607;PC=0.057;Gene=IL36B/NM_014438.4/1;CC=c.-58+8496A>G;VC=Intron;Gene=IL36B/NM_173178.2/0;CC=c.-58+8496A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:5:2:0:0:3,2:99,67:9.87,0.00:-0.40,0.00:10.27,0.00:0.78,0.00:0.87,0.00:0.78,0.00:60,60:58.0,10.0:0,0:0,0:63,77:74,65:43,1:NM_014438.3(IL36B) c.-58+8496A>G,-:0.54,-:NOT_FOUND,- 2 113816940 rs2278716 C G 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6793,G/0.3207;Gene=IL36RN/NM_173170.1/0;CC=c.-27-49C>G;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.-27-49C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:31:30:0:0:21,10:713,339:0.00,30.21:0.00,22.57:0.00,7.63:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.2,71.0:0,0:0,0:43,37:108,112:23,18:-,NM_012275.2(IL36RN) c.-27-49C>G:-,0.28:-,0.019054 2 113816942 rs2278717 A C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.6755,C/0.3245;PC=0.003;Gene=IL36RN/NM_173170.1/0;CC=c.-27-47A>C;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.-27-47A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:29:0:0:21,10:686,336:0.00,29.91:0.00,22.46:0.00,7.45:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.2,70.1:0,0:0,0:40,34:111,110:30,19:-,NM_012275.2(IL36RN) c.-27-47A>C:-,0.29:-,0.0265 2 113817045 . G . . NT END=113818428;NT GT ./. 2 113817181 rs2515392 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1995,T/0.8005;Gene=IL36RN/NM_173170.1/0;CC=c.29+137C>T;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.29+137C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:16:0:0:0:9,7:279,188:0.00,17.35:0.00,0.00:0.00,17.35:0.00,0.98:0.00,0.00:0.00,0.98:60,60:2.1,58.3:0,0:0,0:93,134:58,16:22,9:-,NM_012275.2(IL36RN) c.29+137C>T:-,0.71:-,NOT_FOUND 2 113818515 . G . . NT END=113819700;NT GT ./. 2 113818632 rs2251872 G A 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1995,A/0.8005;Gene=IL36RN/NM_173170.1/0;CC=c.115+118G>A;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.115+118G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:9:0:0:0:6,3:187,90:19.05,0.00:0.00,0.00:19.05,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:72.5,17.7:0,0:0,0:100,25:50,126:25,9:NM_012275.2(IL36RN) c.115+118G>A,-:0.74,-:NOT_FOUND,- 2 113818702 rs2515395 G C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1995,C/0.8005,T/.;Gene=IL36RN/NM_173170.1/0;CC=c.115+188G>C;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.115+188G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,G:7:0:0:0:4,3:96,99:9.34,0.00:0.00,0.00:9.34,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:107.2,11.0:0,0:0,0:61,86:89,64:40,9:NM_012275.2(IL36RN) c.115+188G>C,-:0.74,-:NOT_FOUND,- 2 113818727 rs2251876 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3325,G/0.6675;Gene=IL36RN/NM_173170.1/0;CC=c.115+213A>G;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.115+213A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:6:0:0:0:3,3:101,102:0.00,9.83:0.00,0.00:0.00,9.83:0.00,0.73:0.00,0.00:0.00,0.73:60,60:11.0,122.7:0,0:0,0:111,50:39,101:9,8:-,NM_012275.2(IL36RN) c.115+213A>G:-,0.63:-,NOT_FOUND 2 113818738 rs1374285 G A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1995,A/0.8005;PC=0.005;Gene=IL36RN/NM_173170.1/0;CC=c.115+224G>A;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.115+224G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:6:0:0:0:3,3:90,97:8.62,0.00:0.00,0.00:8.62,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:122.7,11.0:0,0:0,0:61,122:90,28:8,9:NM_012275.2(IL36RN) c.115+224G>A,-:0.74,-:NOT_FOUND,- 2 113819382 rs6733859 C T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1967,T/0.8033;Gene=IL36RN/NM_173170.1/0;CC=c.116-319C>T;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.116-319C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:7:0:0:4,3:131,96:0.00,8.96:0.00,8.96:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:7.5,136.7:0,0:0,0:12,56:138,95:4,40:-,NM_012275.2(IL36RN) c.116-319C>T:-,0.75:-,NOT_FOUND 2 113819419 rs6748448 A G 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1963,G/0.8037;Gene=IL36RN/NM_173170.1/0;CC=c.116-282A>G;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.116-282A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,G:7:7:0:0:3,4:102,131:0.00,12.93:0.00,12.93:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:3.3,127.2:0,0:0,0:47,34:104,115:4,21:-,NM_012275.2(IL36RN) c.116-282A>G:-,0.75:-,NOT_FOUND 2 113819439 rs3820738 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3383,G/0.6617;Gene=IL36RN/NM_173170.1/0;CC=c.116-262A>G;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.116-262A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,G:8:8:0:0:4,4:119,135:0.00,13.00:0.00,13.00:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:2.5,127.2:0,0:0,0:65,54:86,95:4,21:-,NM_012275.2(IL36RN) c.116-262A>G:-,0.63:-,NOT_FOUND 2 113819451 rs2515399 G T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1965,T/0.8035;Gene=IL36RN/NM_173170.1/0;CC=c.116-250G>T;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.116-250G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,T:9:9:0:0:5,4:163,107:0.00,9.92:0.00,9.92:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:3.8,127.2:0,0:0,0:75,66:76,83:9,21:-,NM_012275.2(IL36RN) c.116-250G>T:-,0.75:-,NOT_FOUND 2 113819536 rs2472187 A G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1965,G/0.8035;PC=0.005;Gene=IL36RN/NM_173170.1/0;CC=c.116-165A>G;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.116-165A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:19:0:0:10,9:336,242:0.00,22.71:0.00,22.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.1,74.4:0,0:0,0:51,31:99,118:29,23:-,NM_012275.2(IL36RN) c.116-165A>G:-,0.75:-,NOT_FOUND 2 113819614 rs2252007 T C 79 nt VT=SNV;PN=T;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.1965,C/0.8035;Gene=IL36RN/NM_173170.1/0;CC=c.116-87T>C;VC=Intron;Gene=IL36RN/NM_012275.2/1;CC=c.116-87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:43:0:0:26,23:811,666:78.79,0.00:56.44,0.00:22.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,9.4:0,0:0,0:31,60:112,90:23,26:NM_012275.2(IL36RN) c.116-87T>C,-:0.75,-:NOT_FOUND,- 2 113819829 . G . . NT END=113820029;NT GT ./. 2 113820255 . G . . NT END=113830315;NT GT ./. 2 113830201 rs3811051 T G 69 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.357,A/.,G/0.643;Gene=IL1F10/NM_173161.2/1;CC=c.-28-87T>G;VC=Intron;Gene=IL1F10/NM_032556.5/0;CC=c.-115T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:19:0:0:20:599:69.42:59.73:9.69:1.00:1.00:1.00:60:40.1:0:0:22:128:11:NM_032556.5(IL1F10) c.-115T>G,NM_032556.5(IL1F10) c.-115T>G:0.6,0.6:NOT_FOUND,NOT_FOUND 2 113830348 . G . . NT END=113831905;NT GT ./. 2 113830563 rs12469822 G A 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5841,A/0.4159;Gene=IL1F10/NM_173161.2/1;CC=c.32+216G>A;VC=Intron;Gene=IL1F10/NM_032556.5/0;CC=c.32+216G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:4:0:0:0:2,2:67,66:6.45,0.00:0.00,0.00:6.45,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:66.0,0.0:0,0:0,0:114,142:35,8:14,3:NM_032556.5(IL1F10) c.32+216G>A,-:0.4,-:NOT_FOUND,- 2 113831992 . G . . NT END=113832299;NT GT ./. 2 113832312 rs6761276 T C 94 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.477,C/0.523;PC=0.338;Gene=IL1F10/NM_173161.2/1;CC=c.131T>C;ProtCh=p.I44T;VC=Missense;Gene=IL1F10/NM_032556.5/0;CC=c.131T>C;ProtCh=p.I44T;VC=Missense;DM=IL1F10/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:64:53:0:0:30,1,33:983,10,997:93.68,-0.08,0.00:59.49,-0.01,0.00:34.19,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.2,152.0,12.2:0,0,0:0,0,0:75,68,67:76,83,71:49,0,29:NM_032556.5(IL1F10) c.131T>C (p.Ile44Thr),-:0.48,-:0.583039,- 2 113832333 rs6743376 C A 81 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.2746,A/0.7254;PC=0.966;Gene=IL1F10/NM_173161.2/1;CC=c.152C>A;ProtCh=p.A51D;VC=Missense;Gene=IL1F10/NM_032556.5/0;CC=c.152C>A;ProtCh=p.A51D;VC=Missense;DM=IL1F10/IL1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:60:52:0:0:28,32:854,1053:80.73,0.00:58.42,0.00:22.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.6,11.3:0,0:0,0:63,62:87,86:37,38:NM_032556.5(IL1F10) c.152C>A (p.Ala51Asp),-:0.7,-:0.680532,- 2 113832428 . G . . NT END=113832728;NT GT ./. 2 113832942 . G . . NT END=113875595;NT GT ./. 2 113832981 rs13005572 C T 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.8061,T/0.1939;Gene=IL1F10/NM_173161.2/1;CC=c.*40C>T;VC=3UTR;Gene=IL1F10/NM_032556.5/0;CC=c.*40C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:12:0:0:21,25:647,801:0.00,78.27:0.00,14.59:0.00,63.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,40.8:0,0:0,0:111,101:40,50:32,27:-,NM_032556.5(IL1F10) c.*40C>T:-,0.18:-,0.189989 2 113875509 rs2234677 G A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8135,A/0.1865;Gene=IL1RN/NM_000577.4/0;CC=c.-87G>A;VC=5UTR;Gene=IL1RN/NM_173841.2/1;CC=c.-87G>A;VC=5UTR;Gene=IL1RN/NM_173843.2/0;CC=c.-306G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:21:21:0:0:8,1,12:255,12,383:23.47,0.23,0.00:20.16,0.23,0.00:3.31,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.68,0.00,0.00:60,60,60:104.9,242.0,4.2:0,0,0:0,0,0:43,74,49:107,76,102:19,0,22:NM_173841.2(IL1RN) c.-87G>A,-:0.18,-:0.205869,- 2 113875565 rs2234678 A G 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.8141,G/0.1859;Gene=IL1RN/NM_000577.4/0;CC=c.-31A>G;VC=5UTR;Gene=IL1RN/NM_173841.2/1;CC=c.-31A>G;VC=5UTR;Gene=IL1RN/NM_173843.2/0;CC=c.-250A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:38:0:0:24,17:812,524:0.00,48.43:0.00,40.12:0.00,8.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,106.2:0,0:0,0:30,45:120,106:20,31:-,NM_173841.2(IL1RN) c.-31A>G:-,0.18:-,0.198062 2 113875584 rs2234679 G C 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.8141,C/0.1859;Gene=IL1RN/NM_000577.4/0;CC=c.-12G>C;VC=5UTR;Gene=IL1RN/NM_173841.2/1;CC=c.-12G>C;VC=5UTR;Gene=IL1RN/NM_173843.2/0;CC=c.-231G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:50:44:0:0:24,26:783,896:74.70,0.00:59.15,0.00:15.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:106.3,5.0:0,0:0,0:32,46:111,103:21,19:NM_173841.2(IL1RN) c.-12G>C,-:0.18,-:0.198216,- 2 113875606 . G . . NT END=113877642;NT GT ./. 2 113875631 rs16065 T C 82 nt VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.8143,C/0.1857;Gene=IL1RN/NM_000577.4/0;CC=c.10+26T>C;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.10+26T>C;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-210+26T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:39:0:0:26,27:851,885:81.55,0.00:52.55,0.00:28.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.3,8.0:0,0:0,0:68,86:75,65:19,15:NM_173841.2(IL1RN) c.10+26T>C,-:0.18,-:0.193987,- 2 113875753 rs4251969 C G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8141,G/0.1859;Gene=IL1RN/NM_000577.4/0;CC=c.10+148C>G;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.10+148C>G;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-210+148C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,G:18:3:0:0:12,6:391,202:0.00,18.09:0.00,2.72:0.00,15.37:0.00,0.94:0.00,0.73:0.00,1.00:60,60:5.8,77.5:0,0:0,0:101,79:49,70:16,22:-,NM_173841.2(IL1RN) c.10+148C>G:-,0.18:-,NOT_FOUND 2 113875773 rs4251970 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.8139,G/0.1861;Gene=IL1RN/NM_000577.4/0;CC=c.10+168A>G;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.10+168A>G;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-210+168A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:0:0:0:10,6:322,203:0.00,18.57:0.00,0.00:0.00,18.57:0.00,0.95:0.00,0.00:0.00,0.95:60,60:5.6,62.2:0,0:0,0:117,77:32,73:12,22:-,NM_173841.2(IL1RN) c.10+168A>G:-,0.18:-,NOT_FOUND 2 113877413 rs4251985 G T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8137,T/0.1863;Gene=IL1RN/NM_000577.4/0;CC=c.10+1808G>T;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.11-230G>T;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-209-1612G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,T:5:5:0:0:2,3:72,85:0.00,8.46:0.00,8.46:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,68.0:0,0:0,0:120,51:29,100:21,7:-,NM_173841.2(IL1RN) c.11-230G>T:-,0.18:-,NOT_FOUND 2 113877495 rs928940 G T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2909,T/0.7091;Gene=IL1RN/NM_000577.4/0;CC=c.10+1890G>T;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.11-148G>T;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-209-1530G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:G,T:7:7:0:0:2,5:20,140:0.00,14.66:0.00,14.66:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.0,63.6:0,0:0,0:54,114:96,35:24,26:-,NM_173841.2(IL1RN) c.11-148G>T:-,0.68:-,NOT_FOUND 2 113877538 rs4251986 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8125,C/0.1875;Gene=IL1RN/NM_000577.4/0;CC=c.10+1933G>C;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.11-105G>C;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-209-1487G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,G:13:12:0:0:5,8:172,246:15.83,0.00:12.28,0.00:3.56,0.00:0.91,0.00:0.99,0.00:0.68,0.00:60,60:43.4,5.0:0,0:0,0:38,23:113,127:21,15:NM_173841.2(IL1RN) c.11-105G>C,-:0.18,-:NOT_FOUND,- 2 113877706 . G . . NT END=113879024;NT GT ./. 2 113877713 rs878972 A C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8103,C/0.1897;Gene=IL1RN/NM_000577.4/0;CC=c.10+2108A>C;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.73+8A>C;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-209-1312A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:A,C:17:8:0:0:11,6:346,188:0.00,16.87:0.00,4.48:0.00,12.39:0.00,0.95:0.00,0.95:0.00,0.99:60,60:9.9,37.7:0,0:0,0:94,102:56,48:26,37:-,NM_173841.2(IL1RN) c.73+8A>C:-,0.18:-,0.198985 2 113878715 rs377086 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3812,G/0.6188,T/.;Gene=IL1RN/NM_000577.4/0;CC=c.10+3110A>G;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.73+1010A>G;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-209-310A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:124:14.62:14.62:0.00:1.00:1.00:0.00:60:60.2:0:0:45:106:6:NM_173841.2(IL1RN) c.73+1010A>G,NM_173841.2(IL1RN) c.73+1010A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 113879196 . G . . NT END=113885039;NT GT ./. 2 113879297 rs3213448 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.7418,A/0.2582;Gene=IL1RN/NM_000577.4/0;CC=c.10+3692G>A;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.73+1592G>A;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.-39+102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:20:2:0:0:5,15:158,497:13.30,0.00:-0.12,0.00:13.43,0.00:0.85,0.00:0.53,0.00:0.85,0.00:60,60:34.2,17.6:0,0:0,0:98,113:53,38:35,27:NM_173841.2(IL1RN) c.73+1592G>A,-:0.29,-:NOT_FOUND,- 2 113885128 . G . . NT END=113885137;NT GT ./. 2 113885318 . G . . NT END=113887152;NT GT ./. 2 113887207 rs419598 T C 70 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.8083,C/0.1917;PC=0.026;Gene=IL1RN/NM_000577.4/0;CC=c.117T>C;ProtCh=p.A39=;VC=Silent;Gene=IL1RN/NM_173841.2/1;CC=c.180T>C;ProtCh=p.A60=;VC=Silent;Gene=IL1RN/NM_173843.2/0;CC=c.69T>C;ProtCh=p.A23=;VC=Silent;Gene=IL1RN/NM_173842.2/0;CC=c.171T>C;ProtCh=p.A57=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:36:0:0:25,27:733,922:69.52,0.00:37.00,0.00:32.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.8,1.6:0,0:0,0:73,62:73,82:27,27:NM_173841.2(IL1RN) c.180T>C (p.(=)),-:0.18,-:0.206136,- 2 113887242 . G . . NT END=113888621;NT GT ./. 2 113887262 rs423904 C T 63 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.8083,T/0.1917;Gene=IL1RN/NM_000577.4/0;CC=c.151+21C>T;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.214+21C>T;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.103+21C>T;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.205+21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:18:0:0:23,21:784,665:0.00,63.26:0.00,18.99:0.00,44.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.0,126.0:0,0:0,0:103,107:48,40:21,24:-,NM_173841.2(IL1RN) c.214+21C>T:-,0.18:-,0.206059 2 113887273 rs446433 G A 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.8083,A/0.1917;PC=0.001;Gene=IL1RN/NM_000577.4/0;CC=c.151+32G>A;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.214+32G>A;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.103+32G>A;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.205+32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:16:0:0:20,23:640,750:60.62,0.00:17.60,0.00:43.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:133.1,1.0:0,0:0,0:114,114:35,37:28,21:NM_173841.2(IL1RN) c.214+32G>A,-:0.18,-:0.205828,- 2 113887294 rs495282 G C 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8083,C/0.1917;Gene=IL1RN/NM_000577.4/0;CC=c.151+53G>C;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.214+53G>C;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.103+53G>C;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.205+53G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:10:0:0:14,19:464,642:43.29,0.00:8.07,0.00:35.21,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:140.6,1.2:0,0:0,0:94,112:56,37:33,21:NM_173841.2(IL1RN) c.214+53G>C,-:0.18,-:0.213973,- 2 113887338 rs495410 A C 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8083,C/0.1917;Gene=IL1RN/NM_000577.4/0;CC=c.151+97A>C;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.214+97A>C;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.103+97A>C;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.205+97A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:2:0:0:8,10:265,349:0.00,34.30:0.00,5.23:0.00,29.07:0.00,1.00:0.00,0.84:0.00,1.00:60,60:0.0,138.7:0,0:0,0:113,110:37,40:24,19:-,NM_173841.2(IL1RN) c.214+97A>C:-,0.18:-,NOT_FOUND 2 113887399 rs442710 G A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8083,A/0.1917;Gene=IL1RN/NM_000577.4/0;CC=c.151+158G>A;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.214+158G>A;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.103+158G>A;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.205+158G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:7:0:0:0:5,2:157,68:16.26,0.00:0.00,0.00:16.26,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:95.2,0.0:0,0:0,0:50,106:98,44:9,9:NM_173841.2(IL1RN) c.214+158G>A,-:0.18,-:NOT_FOUND,- 2 113887458 rs408392 G T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8091,T/0.1909;PC=0.002;Gene=IL1RN/NM_000577.4/0;CC=c.151+217G>T;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.214+217G>T;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.103+217G>T;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.205+217G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:85.8:0:0:107:40:4:NM_173841.2(IL1RN) c.214+217G>T,NM_173841.2(IL1RN) c.214+217G>T:0.18,0.18:NOT_FOUND,NOT_FOUND 2 113888557 rs451578 G A 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8053,A/0.1947;Gene=IL1RN/NM_000577.4/0;CC=c.152-65G>A;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.215-65G>A;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.104-65G>A;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.206-65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:13:13:0:0:9,4:281,98:28.93,0.00:25.36,0.00:3.56,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:85.7,74.2:0,0:0,0:46,29:105,109:34,4:NM_173841.2(IL1RN) c.215-65G>A,-:0.19,-:NOT_FOUND,- 2 113888579 rs432014 T C 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.779,C/0.221;Gene=IL1RN/NM_000577.4/0;CC=c.152-43T>C;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.215-43T>C;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.104-43T>C;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.206-43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:C,T:20:20:0:0:14,6:448,172:46.18,0.00:41.38,0.00:4.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.3,49.5:0,0:0,0:35,47:110,89:26,42:NM_173841.2(IL1RN) c.215-43T>C,-:0.21,-:0.236583,- 2 113888735 . G . . NT END=113890232;NT GT ./. 2 113888793 rs454078 A T 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.8091,T/0.1909;Gene=IL1RN/NM_000577.4/0;CC=c.264+59A>T;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.327+59A>T;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.216+59A>T;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.318+59A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:22:8:0:0:8,14:256,452:0.00,45.62:0.00,6.21:0.00,39.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.6,46.1:0,0:0,0:83,85:66,65:21,40:-,NM_173841.2(IL1RN) c.327+59A>T:-,0.19:-,NOT_FOUND 2 113888900 rs380092 T A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4427,A/0.5573;Gene=IL1RN/NM_000577.4/0;CC=c.264+166T>A;VC=Intron;Gene=IL1RN/NM_173841.2/1;CC=c.327+166T>A;VC=Intron;Gene=IL1RN/NM_173843.2/0;CC=c.216+166T>A;VC=Intron;Gene=IL1RN/NM_173842.2/0;CC=c.318+166T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,T:9:0:0:0:5,4:168,134:16.50,0.00:0.00,0.00:16.50,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:61.4,8.0:0,0:0,0:137,86:14,64:7,32:NM_173841.2(IL1RN) c.327+166T>A,-:0.52,-:NOT_FOUND,- 2 113890304 rs315952 T C 182 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.65,A/.,C/0.35;Gene=IL1RN/NM_000577.4/0;CC=c.336T>C;ProtCh=p.S112=;VC=Silent;Gene=IL1RN/NM_173841.2/1;CC=c.399T>C;ProtCh=p.S133=;VC=Silent;Gene=IL1RN/NM_173843.2/0;CC=c.288T>C;ProtCh=p.S96=;VC=Silent;Gene=IL1RN/NM_173842.2/0;CC=c.390T>C;ProtCh=p.S130=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:123:96:0:0:58,1,64:1915,9,2090:182.40,-0.16,0.00:110.18,-0.06,0.00:72.23,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.0,100.0,8.7:0,0,0:0,0,0:66,107,47:84,44,99:34,0,27:NM_173841.2(IL1RN) c.399T>C (p.(=)),-:0.39,-:0.333154,- 2 113890449 . T . . NT END=113940033;NT GT ./. 2 113890586 rs315951 C G 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.645,G/0.355;PC=0.639;Gene=IL1RN/NM_000577.4/0;CC=c.*138C>G;VC=3UTR;Gene=IL1RN/NM_173841.2/1;CC=c.*138C>G;VC=3UTR;Gene=IL1RN/NM_173843.2/0;CC=c.*138C>G;VC=3UTR;Gene=IL1RN/NM_173842.2/0;CC=c.*138C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:0:0:0:10,9:326,249:0.00,23.45:0.00,0.00:0.00,23.45:0.00,1.00:0.00,0.00:0.00,1.00:60,60:31.8,47.1:0,0:0,0:85,70:65,81:32,17:-,NM_173841.2(IL1RN) c.*138C>G:-,0.4:-,NOT_FOUND 2 113926186 . AACAC A 7 rn VT=DEL;SST=Single;DP=5;NP=6;PC=0.001;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:AACAC,A:4:5:0:3:2,2:58,101:0.00,6.52:0.00,3.20:0.00,3.32:0.00,0.46:0.00,0.46:0.00,0.80:60,60:5.0,42.0:0,1:0,0:108,69:28,82:32,12:-,NM_012455.2(PSD4) c.-183-u5373_-183-u5370delACAC:-,NOT_FOUND:-,NOT_FOUND 2 113940681 rs3748914 T C 648 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=180;DB;DBA=NA;PAF=T/0.4247,C/0.5753;PC=0.019;Gene=PSD4/NM_012455.2/1;CC=c.648T>C;ProtCh=p.S216=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:180:116:0:0:1,178,1:11,5666,35:0.08,647.95,0.00:0.00,335.78,0.00:0.08,312.17,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:120.0,42.2,0.0:0,0,0:0,0,0:84,79,12:65,65,139:0,29,0:NM_012455.2(PSD4) c.648T>C (p.(=)),NM_012455.2(PSD4) c.648T>C (p.(=)):0.58,0.58:0.502537,0.502537 2 113940839 rs4849167 G C 460 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=G/0.483,C/0.517,T/.;PC=0.007;Gene=PSD4/NM_012455.2/1;CC=c.806G>C;ProtCh=p.G269A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:130:77:0:0:130:3985:459.88:214.80:245.08:1.00:1.00:1.00:60:40.6:0:0:70:75:36:NM_012455.2(PSD4) c.806G>C (p.Gly269Ala),NM_012455.2(PSD4) c.806G>C (p.Gly269Ala):0.54,0.54:0.440566,0.440566 2 113941090 . G . . NT END=113942941;NT GT ./. 2 113942903 rs1975535 A C 233 nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.4261,C/0.5739;PC=0.002;Gene=PSD4/NM_012455.2/1;CC=c.1174-39A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:C:62:58:0:0:62:2038:233.31:197.32:35.99:1.00:1.00:1.00:60:46.4:0:0:30:119:20:NM_012455.2(PSD4) c.1174-39A>C,NM_012455.2(PSD4) c.1174-39A>C:0.58,0.58:0.503229,0.503229 2 113943018 . G . . NT END=113943025;NT GT ./. 2 113943470 rs2241976 A G 337 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.4225,C/.,G/0.5775;PC=0.018;Gene=PSD4/NM_012455.2/1;CC=c.1266A>G;ProtCh=p.G422=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:92:62:0:1:1,91:9,2944:0.09,337.25:0.00,163.97:0.09,173.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:171.0,41.8:0,0:0,0:31,61:119,87:0,33:NM_012455.2(PSD4) c.1266A>G (p.(=)),NM_012455.2(PSD4) c.1266A>G (p.(=)):0.58,0.58:0.510149,0.510149 2 113943833 . G . . NT END=113949956;NT GT ./. 2 113950167 . G . . NT END=113950624;NT GT ./. 2 113950706 . G . . NT END=113950834;NT GT ./. 2 113950948 . G . . NT END=113951168;NT GT ./. 2 113951228 . G . . NT END=113951435;NT GT ./. 2 113951526 . G . . NT END=113953303;NT GT ./. 2 113953111 rs67941338 CGGATGGATGGATGGATGGATGGAT C 15 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=289;Gene=PSD4/NM_012455.2/1;CC=c.2182-171_2182-148delGATGGATGGATGGATGGATGGATG;VC=Intron;DM=PSD4/Sec7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:CGGATGGATGGATGGATGGATGGAT,C:12:12:0:5:7,5:238,159:0.00,14.75:0.00,14.75:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:0.0,0.0:0,0:0,0:59,56:90,94:48,5:-,NM_012455.2(PSD4) c.2182-192_2182-169delGGATGGATGGATGGATGGATGGAT:-,NOT_FOUND:-,NOT_FOUND 2 113953348 . G . . NT END=113953723;NT GT ./. 2 113953401 rs923693 A G 174 nt VT=SNV;PN=G;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.002995,G/0.997;PC=0.006;Gene=PSD4/NM_012455.2/1;CC=c.2225+54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:G:49:21:0:0:49:1511:174.21:45.22:128.99:1.00:1.00:1.00:60:42.1:0:0:102:42:24:NM_012455.2(PSD4) c.2225+54A>G,NM_012455.2(PSD4) c.2225+54A>G:1,1:0.996496,0.996496 2 113953508 rs6755077 G A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.7418,A/0.2582;Gene=PSD4/NM_012455.2/1;CC=c.2225+161G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:8:0:0:9,12:238,400:21.84,0.00:13.81,0.00:8.03,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:69.0,17.8:0,0:0,0:35,94:116,56:15,33:NM_012455.2(PSD4) c.2225+161G>A,-:0.25,-:NOT_FOUND,- 2 113953657 rs4849169 A C 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.5589,C/0.4411;Gene=PSD4/NM_012455.2/1;CC=c.2226-67A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:38:0:0:25,17:847,544:0.00,50.18:0.00,39.66:0.00,10.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,41.2:0,0:0,0:47,46:101,105:21,27:-,NM_012455.2(PSD4) c.2226-67A>C:-,0.46:-,NOT_FOUND 2 113953885 . G . . NT END=113955140;NT GT ./. 2 113953952 rs4848318 T C 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.5585,C/0.4415;Gene=PSD4/NM_012455.2/1;CC=c.2386+68T>C;VC=Intron;DM=PSD4/PH_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:39:9:0:0:1,17,21:11,478,689:0.03,44.46,0.00:-0.02,12.16,0.00:0.06,32.30,0.00:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:136.0,46.8,23.9:0,0,0:0,0,0:57,95,81:85,56,70:0,29,40:NM_012455.2(PSD4) c.2386+68T>C,-:0.46,-:NOT_FOUND,- 2 113953973 rs71385890 A AT 35 idl,nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.5599,AGA/.,AT/0.4401,ATG/.;Gene=PSD4/NM_012455.2/1;CC=c.2386+89_2386+90insT;VC=Intron;DM=PSD4/PH_9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AT:33:4:12:0:20,1,12:679,7,389:0.00,-0.14,35.43:0.00,0.00,8.69:0.00,-0.14,26.73:0.00,0.00,1.00:0.00,0.00,0.84:0.00,0.00,1.00:60,60,60:35.4,18.0,51.4:1,0,12:0,0,0:99,52,93:50,98,57:38,0,25:-,NM_012455.2(PSD4) c.2386+89_2386+90insT:-,0.45:-,NOT_FOUND 2 113953974 rs10579377 GACA G 35 idl,nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=GACA/0.5599,G/0.4401;Gene=PSD4/NM_012455.2/1;CC=c.2386+91_2386+93delACA;VC=Intron;DM=PSD4/PH_9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GACA,G:31:3:0:12:19,12:607,384:0.00,35.15:0.00,6.93:0.00,28.22:0.00,1.00:0.00,0.79:0.00,1.00:60,60:34.1,51.4:1,12:0,0:95,95:56,55:39,25:-,NM_012455.2(PSD4) c.2386+91_2386+93delACA:-,0.45:-,NOT_FOUND 2 113953984 rs7603621 G A 45 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7414,A/0.2586;Gene=PSD4/NM_012455.2/1;CC=c.2386+100G>A;VC=Intron;DM=PSD4/PH_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:3:0:0:16,13:460,416:44.91,0.00:-0.70,0.00:45.61,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:33.9,60.2:0,12:0,0:86,87:63,55:25,30:NM_012455.2(PSD4) c.2386+100G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 113954006 rs2241978 A G 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.5585,G/0.4415;Gene=PSD4/NM_012455.2/1;CC=c.2386+122A>G;VC=Intron;DM=PSD4/PH_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:1:0:0:14,11:442,345:0.00,32.28:0.00,1.71:0.00,30.57:0.00,1.00:0.00,0.63:0.00,1.00:60,60:30.4,65.1:0,0:0,0:91,109:59,40:29,29:-,NM_012455.2(PSD4) c.2386+122A>G:-,0.46:-,NOT_FOUND 2 113955074 rs902695 G A 72 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.5591,A/0.4409;PC=0.001;Gene=PSD4/NM_012455.2/1;CC=c.2387-67G>A;VC=Intron;DM=PSD4/PH_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:41:0:0:23,23:747,677:71.81,0.00:46.49,0.00:25.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,11.8:0,0:0,0:28,58:112,91:15,30:NM_012455.2(PSD4) c.2387-67G>A,-:0.46,-:NOT_FOUND,- 2 113955212 . G . . NT END=113955323;NT GT ./. 2 113955491 . G . . NT END=113956316;NT GT ./. 2 113956371 rs2276561 G C 205 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=G/0.5585,C/0.4415;PC=0.258;Gene=PSD4/NM_012455.2/1;CC=c.2679G>C;ProtCh=p.T893=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:135:95:0:0:1,69,64,1:21,2125,2121,12:0.36,205.34,0.00,-0.08:-0.09,115.58,0.00,-0.09:0.46,89.76,0.00,0.01:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:136.0,43.0,5.8,172.0:0,0,0,0:0,0,0,0:34,64,62,21:115,79,83,117:0,38,31,0:NM_012455.2(PSD4) c.2679G>C (p.(=)),-:0.46,-:0.375841,- 2 113956462 . G . . NT END=113956659;NT GT ./. 2 113956804 . G . . NT END=113958734;NT GT ./. 2 113956821 rs2305133 C G 159 nt VT=SNV;PN=A;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.5587,G/0.4413;Gene=PSD4/NM_012455.2/1;CC=c.2913+18C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:120:70:0:0:69,50,1:2228,1705,29:0.00,159.20,1.06:0.00,45.11,-0.11:0.00,114.09,1.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.2,38.3,29.0:0,0,0:0,0,0:103,98,149:42,44,1:25,24,0:-,NM_012455.2(PSD4) c.2913+18C>G:-,0.46:-,0.325414 2 113956941 rs2305132 T A 80 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.736,A/0.264;Gene=PSD4/NM_012455.2/1;CC=c.2913+138T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:31:3:0:0:23,8:768,272:80.07,0.00:4.78,0.00:75.28,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:35.7,31.4:0,0:0,0:72,128:79,22:30,5:NM_012455.2(PSD4) c.2913+138T>A,-:0.26,-:NOT_FOUND,- 2 113957048 rs12612729 G A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5587,A/0.4413;PC=0.003;Gene=PSD4/NM_012455.2/1;CC=c.2913+245G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,G:12:0:0:0:4,8:124,252:10.99,0.00:0.00,0.00:10.99,0.00:0.80,0.00:0.00,0.00:0.80,0.00:60,60:87.2,18.5:0,0:0,0:74,99:76,50:6,28:NM_012455.2(PSD4) c.2913+245G>A,-:0.46,-:NOT_FOUND,- 2 113957082 rs45487895 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9734,G/0.02656;Gene=PSD4/NM_012455.2/1;CC=c.2913+279A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:9:0:0:0:5,4:165,128:0.00,12.02:0.00,0.00:0.00,12.02:0.00,0.85:0.00,0.00:0.00,0.85:60,60:6.8,87.2:0,0:0,0:113,108:38,42:18,6:-,NM_012455.2(PSD4) c.2913+279A>G:-,0.03:-,NOT_FOUND 2 113958993 . A . . NT END=113976109;NT GT ./. 2 113975923 rs78802229 T C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9728,C/0.02716;PC=0.074;Gene=PAX8/NM_003466.3/0;CC=c.*187A>G;VC=3UTR;Gene=PAX8/NM_013952.3/0;CC=c.*264A>G;VC=3UTR;Gene=PAX8/NM_013953.3/1;CC=c.*264A>G;VC=3UTR;Gene=PAX8/NM_013992.3/0;CC=c.*264A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:7:7:0:0:4,3:115,99:11.31,0.00:11.31,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:54.8,0.0:0,0:0,0:34,42:116,105:12,24:NM_013953.3(PAX8) c.*264A>G,-:0.03,-:NOT_FOUND,- 2 113976187 . C . . NT END=113977668;NT GT ./. 2 113977756 . C . . NT END=113983464;NT GT ./. 2 113977862 rs4849175 T G 73 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.008986,G/0.991;NP=2642;PC=0.001;Gene=PAX8/NM_003466.3/0;CC=c.1190-107A>C;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1111-107A>C;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.880-107A>C;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.778-107A>C;VC=Intron;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:2:0:0:20:635:73.03:3.88:69.16:1.00:1.00:1.00:60:55.1:0:0:101:49:29:NM_013953.3(PAX8) c.880-107A>C,NM_013953.3(PAX8) c.880-107A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 113977936 rs4849176 C T 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5573,T/0.4427;Gene=PAX8/NM_003466.3/0;CC=c.1190-181G>A;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1111-181G>A;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.880-181G>A;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.778-181G>A;VC=Intron;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:12:0:0:0:6,6:189,192:0.00,18.45:0.00,0.00:0.00,18.45:0.00,0.98:0.00,0.00:0.00,0.98:60,60:26.8,95.0:0,0:0,0:85,127:66,10:29,18:-,NM_013953.3(PAX8) c.880-181G>A:-,0.46:-,NOT_FOUND 2 113983937 rs3748915 T C 160 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=T/0.7706,C/0.2294;Gene=PAX8/NM_003466.3/0;CC=c.1189+795A>G;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1110+795A>G;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.879+795A>G;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.778-6182A>G;VC=Intron;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:121:69:0:0:52,69:1706,2161:159.50,0.00:70.96,0.00:88.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,21.0:0,0:0,0:77,76:68,75:37,39:NM_013953.3(PAX8) c.879+795A>G,-:0.21,-:NOT_FOUND,- 2 113984033 rs3748916 G A 183 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.5571,A/0.4429;Gene=PAX8/NM_003466.3/0;CC=c.1189+699C>T;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1110+699C>T;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.879+699C>T;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.778-6278C>T;VC=Intron;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:110:64:0:0:62,48:1860,1616:182.69,0.00:90.12,0.00:92.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,23.7:0,0:0,0:93,81:57,65:46,38:NM_013953.3(PAX8) c.879+699C>T,-:0.46,-:NOT_FOUND,- 2 113984246 rs71385891 G GTCA 109 rn VT=INS;SST=Single;DP=102;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=331;Gene=PAX8/NM_003466.3/0;CC=c.1189+485_1189+486insTGA;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1110+485_1110+486insTGA;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.879+485_879+486insTGA;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.778-6492_778-6491insTGA;VC=Intron;DM=PAX8/Pax2_C;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GTCA,D:102:70:40:2:59,1,40,2:1847,12,1189,54:0.00,-0.10,108.98,2.49:0.00,0.03,65.19,1.72:0.00,-0.13,43.79,0.77:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:14.9,150.0,37.6,41.5:1,1,0,0:0,0,0,0:59,116,34,95:84,35,114,41:34,0,22,13:-,NM_013953.3(PAX8) c.879+485_879+486insTGA:-,NOT_FOUND:-,NOT_FOUND 2 113984303 rs11123172 T C 189 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.6152,C/0.3848;Gene=PAX8/NM_003466.3/0;CC=c.1189+429A>G;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1110+429A>G;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.879+429A>G;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.778-6548A>G;VC=Intron;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:115:83:0:0:61,54:1942,1620:188.71,0.00:107.78,0.00:80.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:47.6,10.6:0,0:0,0:72,71:69,76:34,31:NM_013953.3(PAX8) c.879+429A>G,-:0.38,-:NOT_FOUND,- 2 113984503 rs2241975 C T 187 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.878,T/0.122;Gene=PAX8/NM_003466.3/0;CC=c.1189+229G>A;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1110+229G>A;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.879+229G>A;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.778-6748G>A;VC=Intron;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:113:72:0:0:1,51,61:12,1644,1916:-0.06,0.00,187.21:0.03,0.00,76.54:-0.08,0.00,110.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:127.0,9.8,33.5:0,0,0:0,0,0:126,86,75:23,65,74:0,40,34:-,NM_013953.3(PAX8) c.879+229G>A:-,0.12:-,NOT_FOUND 2 113984834 . C . . NT END=113992970;NT GT ./. 2 113992800 rs397778746 TCC T 15 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TCC/0.643,T/0.357;DB;DBA=NA;PAF=TCC/0.643,T/0.357;NP=40;Gene=PAX8/NM_003466.3/0;CC=c.1087+169_1087+170delGG;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.1008+169_1008+170delGG;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.777+6326_777+6327delGG;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.777+6326_777+6327delGG;VC=Intron;DM=PAX8/Pax2_C;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:TCC,T:8:8:0:5:3,5:77,154:0.00,15.49:0.00,15.49:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:92.7,9.0:0,0:0,0:114,34:36,117:5,11:-,NM_013953.3(PAX8) c.777+6326_777+6327delGG:-,0.36:-,NOT_FOUND 2 113993160 . C . . NT END=113994177;NT GT ./. 2 113993344 rs7589901 A C 9 end,nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6454,C/0.3546;Gene=PAX8/NM_003466.3/0;CC=c.899-185T>G;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.899-264T>G;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.777+5784T>G;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.777+5784T>G;VC=Intron;Gene=PAX8-AS1/NR_047570.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C:8:0:0:0:5,3:168,94:0.00,8.53:0.00,0.00:0.00,8.53:0.00,0.67:0.00,0.00:0.00,0.67:60,60:26.6,66.7:0,0:0,0:79,144:72,7:59,1:-,NM_013953.3(PAX8) c.777+5784T>G:-,0.35:-,NOT_FOUND 2 113993955 rs4849184 G C 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=49;PC=0.095;Gene=PAX8/NM_003466.3/0;CC=c.898+223C>G;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.898+223C>G;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.777+5173C>G;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.777+5173C>G;VC=Intron;Gene=PAX8-AS1/NR_047570.1/0;VC=NonCoding;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,G:5:5:0:0:3,2:82,65:8.15,0.00:8.15,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:56.0,0.0:0,0:0,0:40,5:111,145:33,3:NR_015377.2(LOC654433) n.110G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 113994079 rs77270532 C T 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7776,T/0.2224;PC=0.279;Gene=PAX8/NM_003466.3/0;CC=c.898+99G>A;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.898+99G>A;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.777+5049G>A;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.777+5049G>A;VC=Intron;Gene=PAX8-AS1/NR_047570.1/0;VC=NonCoding;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:32:0:0:17,17:584,493:0.00,47.13:0.00,39.29:0.00,7.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.4,37.7:0,0:0,0:49,62:97,89:30,18:-,NR_015377.2(LOC654433) n.234C>T:-,0.21:-,NOT_FOUND 2 113994299 . C . . NT END=113999127;NT GT ./. 2 113994417 rs1110839 G T 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.5234,C/.,T/0.4766;Gene=PAX8/NM_003466.3/0;CC=c.778-119C>A;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.778-119C>A;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.777+4711C>A;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.777+4711C>A;VC=Intron;Gene=PAX8-AS1/NR_047570.1/0;VC=NonCoding;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:13:0:0:27,15:886,454:0.00,40.65:0.00,9.32:0.00,31.33:0.00,1.00:0.00,0.99:0.00,1.00:60,60:14.9,38.7:0,0:0,0:96,126:55,24:22,11:-,NM_013953.3(PAX8) c.777+4711C>A:-,0.49:-,NOT_FOUND 2 113994510 rs11898670 A G 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.02935,G/0.9706;Gene=PAX8/NM_003466.3/0;CC=c.778-212T>C;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.778-212T>C;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.777+4618T>C;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.777+4618T>C;VC=Intron;Gene=PAX8-AS1/NR_047570.1/0;VC=NonCoding;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:0:0:0:13:417:47.90:0.00:47.90:1.00:0.00:1.00:60:49.3:0:0:113:35:22:NM_013953.3(PAX8) c.777+4618T>C,NM_013953.3(PAX8) c.777+4618T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 113999304 . C . . NT END=113999584;NT GT ./. 2 113999708 . C . . NT END=114000266;NT GT ./. 2 113999736 rs13015478 G T 82 nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.7482,C/.,T/0.2518;PC=0.928;Gene=PAX8/NM_003466.3/0;CC=c.479-29C>A;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.479-29C>A;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.479-29C>A;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.479-29C>A;VC=Intron;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:53:25:0:0:26,27:818,848:0.00,81.71:0.00,22.05:0.00,59.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.9,38.9:1,0:0,0:98,84:53,67:16,34:-,NM_013953.3(PAX8) c.479-29C>A:-,0.24:-,0.251233 2 114000356 . C . . NT END=114002003;NT GT ./. 2 114000458 rs902691 C A 48 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.0007987,A/0.9992;Gene=PAX8/NM_003466.3/0;CC=c.390-103G>T;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.390-103G>T;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.390-103G>T;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.390-103G>T;VC=Intron;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding;DM=PAX8/Pax2_C;DM=PAX8/PAX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:1:0:0:15:412:48.21:1.99:46.23:1.00:1.00:1.00:60:38.8:0:0:61:90:40:NM_013953.3(PAX8) c.390-103G>T,NM_013953.3(PAX8) c.390-103G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 114002205 . C . . NT END=114004330;NT GT ./. 2 114002622 rs555969705 G GT 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.8492,GT/0.1508,GTTTT/.,GTTTTT/.;NP=1;NP=58;Gene=PAX8/NM_003466.3/0;CC=c.192-422_192-421insA;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.192-422_192-421insA;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.192-422_192-421insA;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.192-422_192-421insA;VC=Intron;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding;DM=PAX8/PAX;DM=PAX8/Pax2_C;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:G,GT:4:1:2:0:2,2:59,67:0.00,6.45:0.00,3.48:0.00,2.97:0.00,0.51:0.00,0.67:0.00,0.89:60,60:53.0,5.5:0,0:0,0:137,69:14,81:1,12:-,NM_013953.3(PAX8) c.192-422_192-421insA:-,NOT_FOUND:-,NOT_FOUND 2 114004237 rs11678394 G A 153 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.002995,A/0.997;NP=3425;Gene=PAX8/NM_003466.3/0;CC=c.191+94C>T;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.191+94C>T;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.191+94C>T;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.191+94C>T;VC=Intron;Gene=PAX8-AS1/NR_015377.2/0;VC=NonCoding;DM=PAX8/PAX;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:39:0:0:41:1331:152.61:135.07:17.55:1.00:1.00:1.00:60:41.2:0:0:44:107:26:NM_013953.3(PAX8) c.191+94C>T,NM_013953.3(PAX8) c.191+94C>T:1,1:NOT_FOUND,NOT_FOUND 2 114004497 . C . . NT END=114035946;NT GT ./. 2 114035923 rs1867763 A G 86 nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.6544,G/0.3456,T/.;PC=0.920;Gene=PAX8/NM_003466.3/0;CC=c.25+24T>C;VC=Intron;Gene=PAX8/NM_013952.3/0;CC=c.25+24T>C;VC=Intron;Gene=PAX8/NM_013953.3/1;CC=c.25+24T>C;VC=Intron;Gene=PAX8/NM_013992.3/0;CC=c.25+24T>C;VC=Intron;DM=PAX8/PAX;DM=PAX8/Pax2_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:62:52:0:0:32,1,29:940,12,905:0.00,0.01,85.97:0.00,0.06,49.99:0.00,-0.05,35.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.9,12.0,42.3:0,0,0:0,0,0:42,137,27:96,14,120:33,0,15:-,NM_013953.3(PAX8) c.25+24T>C:-,0.32:-,0.377761 2 114036047 . C . . NT END=114036407;NT GT ./. 2 114036436 rs2084163 G C 314 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.02356,G/0.9764;PC=0.826;Gene=PAX8/NM_003466.3/0;CC=c.-104C>G;VC=5UTR;Gene=PAX8/NM_013952.3/0;CC=c.-104C>G;VC=5UTR;Gene=PAX8/NM_013953.3/1;CC=c.-104C>G;VC=5UTR;Gene=PAX8/NM_013992.3/0;CC=c.-104C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:79:62:0:0:79:2761:313.74:159.03:154.71:1.00:1.00:1.00:60:40.9:0:0:64:74:33:NM_013953.3(PAX8) c.=,NM_013953.3(PAX8) c.=:0.98,0.98:NOT_FOUND,NOT_FOUND 2 114036501 . C . . NT END=114195445;NT GT ./. 2 114055376 rs185782796 G C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9475,C/0.05252 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,C,G:5:4:0:0:1,3,1:11,89,30:0.79,9.26,0.00:-0.10,9.26,0.00:0.89,0.00,0.00:0.00,0.78,0.00:0.00,0.97,0.00:0.00,0.73,0.00:52,60,40:109.0,74.7,91.0:0,0,0:0,0,0:60,55,144:91,64,6:0,37,0:chr2 g.114055375G>C (intergenic),-:0.04,-:NOT_FOUND,- 2 114055401 . CACACAG C 16 nt VT=DEL;SST=Single;DP=7;NP=1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CACACAG,C:7:5:0:5:2,5:69,156:0.00,16.16:0.00,10.49:0.00,5.67:0.00,0.98:0.00,1.00:0.00,1.00:60,70:134.0,38.0:1,0:0,0:60,32:84,118:25,19:-,chr2 g.114055402_114055407delACACAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 114055457 rs6761762 G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9221,A/0.07788 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:6:3:0:0:3,3:94,101:9.02,0.00:3.17,0.00:5.85,0.00:0.73,0.00:0.89,0.00:0.96,0.00:70,70:42.7,57.7:0,0:0,0:82,63:68,88:7,0:chr2 g.114055456G>A (intergenic),-:0.06,-:NOT_FOUND,- 2 114081827 rs62158169 C T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8193,T/0.1807 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:4:0:0:2,2:65,71:0.00,6.85:0.00,6.85:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,35.5:0,0:0,0:28,54:122,96:14,15:-,chr2 g.114081826C>T (intergenic):-,0.17:-,NOT_FOUND 2 114105134 rs1446620 G A 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3381,A/0.6619 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:146:16.96:9.40:7.55:1.00:1.00:1.00:60:41.0:0:0:67:83:31:chr2 g.114105133G>A (intergenic),chr2 g.114105133G>A (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 2 114116351 rs373640002 AGTGTGTGT A 9 idl,nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=30;PC=0.002;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:AGTGTGTGT,A:7:9:0:6:4,3:136,191:0.00,8.74:0.00,2.77:0.00,5.97:0.00,0.62:0.00,0.94:0.00,0.92:60,60:5.5,35.7:0,3:0,0:23,62:108,86:8,6:-,chr2 g.114116352_114116359delGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 114195600 . G . . NT END=114196596;NT GT ./. 2 114196356 rs201236577 A G 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=30;Gene=CBWD2/NM_172003.3/1;CC=c.154+757A>G;VC=Intron;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:11:11:0:0:7,4:212,124:0.00,11.18:0.00,11.18:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:40,27:37.6,80.5:0,0:0,0:42,20:109,127:32,11:-,NM_172003.3(CBWD2) c.154+757A>G:-,NOT_FOUND:-,NOT_FOUND 2 114196389 rs112271478 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=59;Gene=CBWD2/NM_172003.3/1;CC=c.154+790G>A;VC=Intron;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:15:15:0:0:4,11:106,385:8.72,0.00:8.72,0.00:0.00,0.00:0.76,0.00:0.76,0.00:0.00,0.00:27,50:80.5,12.6:0,0:0,0:53,26:94,124:11,21:NM_172003.3(CBWD2) c.154+790G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114196695 . G . . NT END=114198927;NT GT ./. 2 114196739 rs567628588 T G 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.985,G/0.01498;NP=65;PC=0.128;Gene=CBWD2/NM_172003.3/1;CC=c.154+1140T>G;VC=Intron;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:8:0:0:16,20:450,679:41.86,0.00:11.66,0.00:30.20,0.00:1.00,0.00:0.98,0.00:1.00,0.00:55,55:38.0,1.9:0,0:0,0:94,71:56,80:36,30:NM_172003.3(CBWD2) c.154+1140T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 114198703 rs111491936 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9621,G/0.03794;NP=41;Gene=CBWD2/NM_172003.3/1;CC=c.155-225A>G;VC=Intron;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,G,T:11:11:0:0:5,5,1:164,168,10:0.00,16.16,0.32:0.00,16.16,0.32:0.00,0.00,0.00:0.00,0.93,0.00:0.00,0.93,0.00:0.00,0.00,0.00:40,42,27:5.2,33.6,137.0:0,0,0:0,0,0:31,86,123:120,65,28:11,6,0:-,NM_172003.3(CBWD2) c.155-225A>G:-,NOT_FOUND:-,NOT_FOUND 2 114199015 . G . . NT END=114201343;NT GT ./. 2 114201441 . G . . NT END=114202540;NT GT ./. 2 114202633 . G . . NT END=114210715;NT GT ./. 2 114210776 . G . . NT END=114212317;NT GT ./. 2 114210940 rs1830616 G C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.024;Gene=CBWD2/NM_172003.3/1;CC=c.490+165G>C;VC=Intron;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:C,G:43:0:0:0:5,38:176,1244:13.28,0.00:0.00,0.00:13.28,0.00:0.75,0.00:0.00,0.00:0.75,0.00:24,60:86.0,6.2:0,0:0,0:57,91:93,58:23,36:NM_172003.3(CBWD2) c.490+165G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114210963 rs200774548 G T 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.400;Gene=CBWD2/NM_172003.3/1;CC=c.490+188G>T;VC=Intron;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,T:34:0:0:0:29,5:888,174:0.00,13.62:0.00,0.00:0.00,13.62:0.00,0.79:0.00,0.00:0.00,0.79:55,23:9.0,85.8:0,0:0,0:100,80:51,70:26,23:-,NM_172003.3(CBWD2) c.490+188G>T:-,NOT_FOUND:-,NOT_FOUND 2 114211028 rs62161970 C T 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=CBWD2/NM_172003.3/1;CC=c.490+253C>T;VC=Intron;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW;DM=CBWD2/cobW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:16:0:0:0:12,4:342,135:0.00,11.52:0.00,0.00:0.00,11.52:0.00,0.75:0.00,0.00:0.00,0.75:42,24:11.8,89.2:0,0:0,0:112,100:38,50:16,9:-,NM_172003.3(CBWD2) c.490+253C>T:-,NOT_FOUND:-,NOT_FOUND 2 114212356 . G . . NT END=114218249;NT GT ./. 2 114218297 . G . . NT END=114219984;NT GT ./. 2 114220072 . G . . NT END=114222705;NT GT ./. 2 114222751 . G . . NT END=114223357;NT GT ./. 2 114223221 . C A 44 mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=117;PC=0.006;Gene=CBWD2/NM_172003.3/1;CC=c.707+471C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:117:115:0:0:18,99:568,3229:43.60,0.00:43.90,0.00:-0.29,0.00:1.00,0.00:1.00,0.00:0.61,0.00:16,48:36.2,17.0:0,0:0,0:37,46:114,105:27,30:NM_172003.3(CBWD2) c.707+471C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114223277 . C G 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=198;PC=0.001;Gene=CBWD2/NM_172003.3/1;CC=c.707+527C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:198:176:0:0:157,31,10:4924,992,134:0.00,77.49,3.11:0.00,55.62,-2.00:0.00,21.86,5.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:51,40,40:26.3,46.0,71.0:0,0,0:0,0,0:59,20,29:71,125,120:24,10,17:-,NM_172003.3(CBWD2) c.707+527C>G:-,NOT_FOUND:-,NOT_FOUND 2 114223853 . A . . NT END=114224059;NT GT ./. 2 114224394 . c . . NT END=114228609;NT GT ./. 2 114228442 . C G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=64;NP=85;Gene=CBWD2/NM_172003.3/1;CC=c.708-168C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,C,G:64:64:0:0:1,58,5:34,1865,172:1.68,0.00,12.01:1.68,0.00,12.02:-0.00,0.00,-0.02:0.00,0.00,0.68:0.00,0.00,0.68:0.00,0.00,0.39:22,52,28:44.0,10.7,47.8:0,0,0:0,0,0:134,49,82:17,102,69:0,32,9:-,NM_172003.3(CBWD2) c.708-168C>G:-,NOT_FOUND:-,NOT_FOUND 2 114228667 . G . . NT END=114239753;NT GT ./. 2 114239806 . G . . NT END=114251333;NT GT ./. 2 114251403 . G . . NT END=114251505;NT GT ./. 2 114252691 . G . . NT END=114252696;NT GT ./. 2 114252827 . G . . NT END=114253213;NT GT ./. 2 114253321 . C . . NT END=114256833;NT GT ./. 2 114258061 . G . . NT END=114386183;NT GT ./. 2 114258384 rs2144270 G A 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.5533,A/0.4467;Gene=FOXD4L1/NM_012184.4/1;CC=c.*324G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:0:0:0:18,18:520,590:49.63,0.00:0.00,0.00:49.63,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.9,3.8:0,0:0,0:107,104:39,46:26,25:NM_012184.4(FOXD4L1) c.*324G>A,-:0.33,-:NOT_FOUND,- 2 114299575 rs2441489 G C 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.2067,C/0.7933;PC=1.000;Gene=PGM5P3-AS1/NR_121190.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121185.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121186.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121187.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:10:0:0:17:507:58.71:27.93:30.78:1.00:1.00:1.00:55:82.5:0:0:79:71:15:chr2 g.114299574G>C (intergenic),chr2 g.114299574G>C (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 2 114299607 rs2441488 T C 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.227,C/0.773;PC=1.000;Gene=PGM5P3-AS1/NR_121190.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121185.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121186.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121187.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:10:0:0:17:514:59.48:29.46:30.02:1.00:1.00:1.00:55:83.7:0:0:111:37:15:chr2 g.114299606T>C (intergenic),chr2 g.114299606T>C (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 2 114299986 rs13418355 G A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PGM5P3-AS1/NR_121190.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121185.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121186.1/0;VC=NonCoding;Gene=PGM5P4-AS1/NR_121187.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:5:0:0:0:3,2:106,63:10.57,0.00:0.00,0.00:10.57,0.00:0.78,0.00:0.00,0.00:0.78,0.00:50,51:35.3,11.0:0,0:0,0:54,59:97,91:33,22:chr2 g.114299985G>A (intergenic),-:0.27,-:NOT_FOUND,- 2 114320472 rs1665359 T C,G 17 mq,nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6,C/0.4;NP=118 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:11:C,G,T:7:7:0:0:5,1,1:160,25,12:17.13,2.07,0.00:17.13,2.07,0.00:0.00,0.00,0.00:0.98,0.00,0.00:0.98,0.00,0.00:0.00,0.00,0.00:42,15,55:36.2,186.0,86.0:0,0,0:0,0,0:22,49,112:129,73,39:16,0,0:chr2 g.114320471T>C (intergenic),chr2 g.114320471T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 114320683 . ATT A 18 idl,rn VT=DEL;SST=Single;DP=21;PC=0.994;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATT,A:16:19:0:14:8,8:261,296:0.00,18.30:0.00,12.70:0.00,5.60:0.00,0.99:0.00,1.00:0.00,0.90:37,43:49.2,85.2:0,5:0,0:82,25:67,120:28,10:-,chr2 g.114320684_114320685delTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 114320750 rs186107989 C T 141 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C,T:41:27:0:0:2,39:53,1263:0.00,141.41:0.00,74.98:0.00,66.43:0.00,1.00:0.00,1.00:0.00,1.00:3,43:56.5,41.4:0,0:0,0:88,42:61,109:22,27:chr2 g.114320749C>T (intergenic),chr2 g.114320749C>T (intergenic):0.23,0.23:NOT_FOUND,NOT_FOUND 2 114341011 rs2475479 G A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:12:12:0:0:3,9:100,268:8.50,0.00:8.50,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:24,60:133.3,5.6:0,0:0,0:23,44:128,99:5,25:NR_024077.2(WASH2P) n.-219G>A,-:0.34,-:NOT_FOUND,- 2 114341074 rs2418687 C T 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:23:22:0:0:19,4:644,134:0.00,10.69:0.00,10.82:0.00,-0.12:0.00,0.69:0.00,0.96:0.00,0.43:60,24:5.6,125.8:0,0:0,0:45,74:105,76:30,14:-,NR_024077.2(WASH2P) n.-156C>T:-,NOT_FOUND:-,NOT_FOUND 2 114341081 . C T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;NP=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:26:25:0:0:22,4:739,135:0.00,10.56:0.00,10.71:0.00,-0.15:0.00,0.67:0.00,0.95:0.00,0.44:60,24:4.8,125.8:0,0:0,0:36,81:114,69:28,14:-,NR_024077.2(WASH2P) n.-149C>T:-,NOT_FOUND:-,NOT_FOUND 2 114341172 rs2418690 A G 20 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=130 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:64:52:0:0:56,8:1775,269:0.00,20.25:0.00,21.73:0.00,-1.48:0.00,0.95:0.00,0.99:0.00,0.98:60,40:10.8,160.5:0,0:0,0:63,29:79,121:24,22:-,NR_024077.2(WASH2P) n.-58A>G:-,NOT_FOUND:-,NOT_FOUND 2 114341216 rs2418692 A G 23 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:62:39:0:0:52,10:1714,301:0.00,23.01:0.00,22.00:0.00,1.01:0.00,0.99:0.00,0.99:0.00,1.00:60,40:11.1,155.9:0,0:0,0:104,63:42,87:25,19:-,NR_024077.2(WASH2P) n.-14A>G:-,NOT_FOUND:-,NOT_FOUND 2 114341247 rs2418693 T G 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.4441,G/0.5559;NP=96;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:50:24:0:0:13,37:448,1185:38.57,0.00:18.74,0.00:19.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:126.8,13.1:0,0:0,0:69,110:82,39:41,18:NR_024077.2(WASH2P) n.18T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 114345906 rs113925826 C T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=57;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,T:17:17:0:0:14,3:443,98:0.00,7.79:0.00,7.79:0.00,0.00:0.00,0.53:0.00,0.53:0.00,0.00:50,25:16.4,56.3:0,0:0,0:43,77:108,74:24,37:-,NR_024077.2(WASH2P) n.277-221C>T:-,NOT_FOUND:-,NOT_FOUND 2 114352441 rs200119558 C T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=3;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,T:11:11:0:0:7,4:235,125:0.00,11.28:0.00,11.28:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:40,22:34.9,38.0:0,0:0,0:71,19:80,131:8,5:-,NR_024077.2(WASH2P) n.431-199C>T:-,NOT_FOUND:-,NOT_FOUND 2 114352638 rs377338570 A G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=81;PC=1.000;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:59:0:0:52,12:1727,371:0.00,29.42:0.00,29.91:0.00,-0.49:0.00,1.00:0.00,1.00:0.00,0.69:41,34:6.4,45.6:0,0:0,0:51,63:99,86:27,27:-,NR_024077.2(WASH2P) n.431-2A>G:-,NOT_FOUND:-,NOT_FOUND 2 114352750 rs62160632 G C 81 nt VT=SNV;PN=T;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=26;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:94:53:0:0:29,65:922,2177:80.82,0.00:45.15,0.00:35.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,58:104.2,8.2:0,0:0,0:50,90:101,61:31,21:NR_024077.2(WASH2P) n.529+12G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114352806 rs2974807 T C 92 nt VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.5663,C/0.4337;NP=110;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:37:0:0:34,63:1035,2064:92.42,0.00:41.08,0.00:51.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:106.7,6.9:0,0:0,0:78,82:73,69:27,48:NR_024077.2(WASH2P) n.529+68T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114352807 rs6716662 G A 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=6;PC=0.002;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:97:37:0:0:15,82:490,2735:38.03,0.00:21.57,0.00:16.47,0.00:1.00,0.00:0.99,0.00:1.00,0.00:52,60:128.3,26.1:0,0:0,0:82,80:69,70:26,46:NR_024077.2(WASH2P) n.529+69G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114352820 rs4499433 C T 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=102;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:45:0:0:85,16:2632,543:0.00,42.78:0.00,21.99:0.00,20.79:0.00,1.00:0.00,1.00:0.00,1.00:60,52:23.6,122.3:0,0:0,0:74,92:77,59:44,30:-,NR_024077.2(WASH2P) n.529+82C>T:-,NOT_FOUND:-,NOT_FOUND 2 114352837 rs4499434 C T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=29;PC=0.003;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:103:54:0:0:83,20:2624,620:0.00,49.57:0.00,24.39:0.00,25.17:0.00,1.00:0.00,1.00:0.00,1.00:60,51:27.6,79.1:0,0:0,0:54,92:97,58:37,40:-,NR_024077.2(WASH2P) n.529+99C>T:-,NOT_FOUND:-,NOT_FOUND 2 114352877 rs199713267 CT C 15 nt VT=DEL;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=1;Gene=WASH2P/NR_024077.2/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:CT,C:99:63:0:22:77,22:2609,268:0.00,14.74:0.00,5.82:0.00,8.92:0.00,1.00:0.00,1.00:0.00,1.00:60,34:8.1,77.7:0,0:0,0:58,111:90,40:25,24:-,NR_024077.2(WASH2P) n.530-68delT:-,0.03:-,NOT_FOUND 2 114353008 rs708636 G C 24 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=10;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:C,G:126:83:0:0:11,115:346,3501:23.65,0.00:21.74,0.00:1.91,0.00:0.98,0.00:1.00,0.00:0.99,0.00:25,53:60.1,18.3:0,0:0,0:81,55:70,93:42,31:NR_024077.2(WASH2P) n.592G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114353039 rs200628645 C T 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=NA;PC=0.139;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:135:88:0:0:122,13:3772,431:0.00,30.74:0.00,14.68:0.00,16.06:0.00,1.00:0.00,1.00:0.00,1.00:41,40:13.8,69.2:0,0:0,0:64,87:86,63:34,14:-,NR_024077.2(WASH2P) n.623C>T:-,NOT_FOUND:-,NOT_FOUND 2 114353103 rs2758108 T C 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=5;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,T:117:74:0:0:14,103:422,3356:30.35,0.00:7.13,0.00:23.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,41:82.1,8.5:0,0:0,0:129,89:21,61:11,30:NR_024077.2(WASH2P) n.676+11T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114353104 . G A 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=115;NP=4;PC=0.001;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,G:115:71:0:0:12,103:383,3454:27.33,0.00:6.21,0.00:21.12,0.00:0.99,0.00:1.00,0.00:1.00,0.00:40,41:83.4,9.4:0,0:0,0:130,89:20,61:9,31:NR_024077.2(WASH2P) n.676+12G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114353282 rs375125692 G T 111 nt VT=SNV;PN=G;NN=A;SST=Single;DP=232;DB;DBA=NA;PAF=NA;NP=111;PC=1.000;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:232:163:0:0:1,1,186,44:10,14,6035,1387:-0.28,-0.21,0.00,111.03:-0.16,-0.16,0.00,49.69:-0.12,-0.05,0.00,61.33:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:23,24,52,40:30.0,193.0,11.5,72.2:0,0,0,0:0,0,0,0:36,114,73,67:115,37,75,77:0,0,34,32:-,NR_024077.2(WASH2P) n.689G>T:-,NOT_FOUND:-,NOT_FOUND 2 114353296 rs6749445 C T 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=228;DB;DBA=NA;PAF=NA;NP=97;PC=1.000;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:228:155:0:0:1,200,1,26:13,6454,22,791:-0.26,0.00,0.11,56.66:-0.16,0.00,0.30,30.74:-0.10,0.00,-0.19,25.93:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,52,2,40:13.0,17.1,37.0,71.6:0,0,0,0:0,0,0,0:148,95,87,78:1,52,63,69:0,29,0,32:-,NR_024077.2(WASH2P) n.703C>T:-,NOT_FOUND:-,NOT_FOUND 2 114353399 rs62160634 T G 99 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=137;DB;DBA=NA;PAF=NA;NP=1;PC=1.000;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:137:65:0:0:34,103:1160,3227:98.93,0.00:-4.44,0.00:103.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,58:67.4,9.3:0,0:0,0:110,79:39,58:24,33:NR_024077.2(WASH2P) n.806T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 114353449 . C T 19 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=97;NP=8;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:C,T:97:42:0:0:89,8:2570,271:0.00,18.94:0.00,-1.17:0.00,20.11:0.00,0.92:0.00,0.91:0.00,0.99:60,34:17.0,71.5:0,0:0,0:95,132:54,19:31,3:-,NR_024077.2(WASH2P) n.813+43C>T:-,NOT_FOUND:-,NOT_FOUND 2 114354183 . G C 25 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=84;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,G:84:53:0:0:11,73:339,2449:25.05,0.00:26.94,0.00:-1.89,0.00:0.99,0.00:1.00,0.00:0.96,0.00:23,25:68.6,34.3:0,0:0,0:77,76:73,72:27,37:NR_024077.2(WASH2P) n.1147+28G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114354207 . A G 31 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=81;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:63:0:0:66,15:2008,409:0.00,31.30:0.00,32.89:0.00,-1.59:0.00,1.00:0.00,1.00:0.00,0.94:25,23:39.5,127.1:0,0:0,0:80,73:69,78:31,27:-,NR_024077.2(WASH2P) n.1148-41A>G:-,NOT_FOUND:-,NOT_FOUND 2 114354208 rs62160636 C T 67 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:63:0:0:55,26:1809,769:0.00,67.19:0.00,70.22:0.00,-3.03:0.00,1.00:0.00,1.00:0.00,1.00:25,23:31.5,106.8:0,0:0,0:82,77:69,70:33,29:-,NR_024077.2(WASH2P) n.1148-40C>T:-,NOT_FOUND:-,NOT_FOUND 2 114354271 . C G 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;PC=0.251;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:58:36:0:0:45,12,1:1326,357,8:0.00,28.73,-0.24:0.00,21.00,-0.08:0.00,7.73,-0.16:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.90,0.00:25,23,21:30.2,152.8,101.0:1,0,0:0,0,0:93,86,80:48,55,29:44,27,0:-,NR_024077.2(WASH2P) n.1171C>G:-,NOT_FOUND:-,NOT_FOUND 2 114354276 . C A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,C,T:58:34:0:0:10,47,1:226,1344,11:15.97,0.00,-0.15:10.47,0.00,0.03:5.50,0.00,-0.19:0.99,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:23,25,21:169.5,34.2,101.0:0,0,0:0,0,0:88,95,85:63,45,24:28,49,0:NR_024077.2(WASH2P) n.1176C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114354294 . A C 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;PC=0.001;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C,T:53:15:0:0:39,9,5:731,98,107:0.00,4.27,6.47:0.00,3.02,1.11:0.00,1.25,5.36:0.00,0.00,0.71:0.00,0.00,0.67:0.00,0.00,0.95:25,25,23:38.9,116.2,43.4:0,0,0:0,0,0:34,47,33:117,104,118:26,47,10:-,NR_024077.2(WASH2P) n.1194A>C:-,NOT_FOUND:-,NOT_FOUND 2 114354325 . C T 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:8:0:0:40,18:1258,541:0.00,47.07:0.00,6.69:0.00,40.39:0.00,1.00:0.00,0.93:0.00,1.00:25,23:10.5,82.4:0,0:0,0:50,53:100,97:20,13:-,NR_024077.2(WASH2P) n.1225C>T:-,NOT_FOUND:-,NOT_FOUND 2 114354442 rs199628225 C T 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:6:0:0:30,12:865,406:0.00,35.43:0.00,-0.87:0.00,36.30:0.00,1.00:0.00,0.85:0.00,1.00:25,23:15.8,62.5:0,0:0,0:111,104:40,47:25,23:-,NR_024077.2(WASH2P) n.1306+36C>T:-,NOT_FOUND:-,NOT_FOUND 2 114354479 . G A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:5:0:0:8,15:257,475:23.07,0.00:-0.92,0.00:23.99,0.00:0.99,0.00:0.87,0.00:1.00,0.00:23,25:76.0,18.7:0,0:0,0:132,110:18,40:13,20:NR_024077.2(WASH2P) n.1306+73G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114354518 . C G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,G:11:4:0:0:8,3:212,99:0.00,8.54:0.00,-0.48:0.00,9.02:0.00,0.60:0.00,0.72:0.00,0.89:25,23:53.5,43.3:0,0:0,0:136,128:14,23:8,3:-,NR_024077.2(WASH2P) n.1306+112C>G:-,NOT_FOUND:-,NOT_FOUND 2 114354725 . G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;NP=18;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,G:8:6:0:0:3,5:102,161:9.33,0.00:9.74,0.00:-0.41,0.00:0.67,0.00:0.93,0.00:0.67,0.00:24,40:63.3,30.2:0,0:0,0:47,120:80,31:24,21:NR_024077.2(WASH2P) n.1306+319G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114354996 . G A 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=146;NP=11;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:146:131:0:0:22,124:710,4202:54.63,0.00:48.18,0.00:6.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:37.6,13.4:0,0:0,0:27,66:122,81:16,38:NR_024077.2(WASH2P) n.1307-67G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114355054 rs62160638 C T 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=210;DB;DBA=NA;PAF=NA;NP=15;PC=0.807;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:210:185:0:0:187,23:5921,782:0.00,57.69:0.00,55.49:0.00,2.20:0.00,1.00:0.00,1.00:0.00,1.00:55,40:13.1,58.0:0,0:0,0:63,30:85,110:41,28:-,NR_024077.2(WASH2P) n.1307-9C>T:-,NOT_FOUND:-,NOT_FOUND 2 114355167 rs56294709 A G 246 nt VT=SNV;PN=C;NN=T;SST=Single;DP=307;DB;DBA=NA;PAF=NA;NP=151;PC=1.000;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:307:221:0:0:217,89,1:7142,2837,11:0.00,246.06,-0.24:0.00,127.92,-0.13:0.00,118.14,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,51,40:11.4,58.4,76.0:0,0,0:0,0,0:93,78,135:51,63,14:30,34,0:-,NR_024077.2(WASH2P) n.1411A>G:-,NOT_FOUND:-,NOT_FOUND 2 114355237 rs55792129 C T 162 nt VT=SNV;PN=G;NN=G;SST=Single;DP=237;DB;DBA=NA;PAF=NA;NP=183;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:237:147:0:0:178,59:5804,1920:0.00,162.44:0.00,57.41:0.00,105.03:0.00,1.00:0.00,1.00:0.00,1.00:60,41:14.1,81.4:0,0:0,0:79,84:68,60:32,23:-,NR_024077.2(WASH2P) n.1459+22C>T:-,NOT_FOUND:-,NOT_FOUND 2 114355307 . A C 138 nt VT=SNV;PN=A;NN=C;SST=Single;DP=144;NP=11;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:144:63:0:0:92,50,2:2837,1537,20:0.00,137.52,-0.29:0.00,43.18,-0.17:0.00,94.34,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,40,49:7.5,81.5,80.0:0,0,0:0,0,0:109,128,97:40,19,53:25,14,26:-,NR_024077.2(WASH2P) n.1459+92A>C:-,NOT_FOUND:-,NOT_FOUND 2 114355317 rs55666675 T C 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=8;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:116:50:0:0:1,21,94:8,705,3051:-0.31,56.80,0.00:-0.12,6.00,0.00:-0.19,50.80,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,36,60:55.0,98.4,13.0:0,0,0:0,0,0:105,113,116:46,38,34:0,25,18:NR_024077.2(WASH2P) n.1459+102T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114355415 rs60138461 GGTTT G 11 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;Gene=WASH2P/NR_024077.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,GGTTT,G:40:1:0:6:1,33,6:8,1032,157:-0.22,0.00,11.30:-0.01,0.00,-0.04:-0.22,0.00,11.34:0.00,0.00,0.88:0.00,0.00,0.43:0.00,0.00,0.88:40,60,40:78.0,8.9,75.2:0,0,0:0,0,0:82,82,43:68,68,108:0,34,15:-,NR_024077.2(WASH2P) n.1459+201_1459+204delGTTT:-,NOT_FOUND:-,NOT_FOUND 2 114355486 rs201719310 C T 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=224;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,T:29:1:0:0:23,6:631,207:0.00,17.17:0.00,-0.10:0.00,17.27:0.00,0.90:0.00,0.47:0.00,0.99:40,40:12.9,97.8:0,0:0,0:89,95:61,55:32,15:-,NR_024077.2(WASH2P) n.1459+271C>T:-,NOT_FOUND:-,NOT_FOUND 2 114355494 rs375756419 A G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=179;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,C,G:28:2:0:0:21,1,6:554,11,210:0.00,0.01,17.67:0.00,-0.03,-0.21:0.00,0.05,17.88:0.00,0.00,0.91:0.00,0.00,0.49:0.00,0.00,0.99:40,40,40:19.0,94.0,97.8:0,0,0:0,0,0:81,41,103:64,106,47:42,0,15:-,NR_024077.2(WASH2P) n.1459+279A>G:-,NOT_FOUND:-,NOT_FOUND 2 114355500 rs55883812 G A 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=46;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,G:28:2:0:0:3,25:105,714:7.80,0.00:-0.10,0.00:7.90,0.00:0.44,0.00:0.34,0.00:0.87,0.00:40,40:104.0,31.6:0,0:0,0:122,71:29,80:4,36:NR_024077.2(WASH2P) n.1459+285G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114355567 rs4030249 G T 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=187;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,T:18:2:0:0:15,3:427,100:0.00,7.91:0.00,-0.16:0.00,8.07:0.00,0.52:0.00,0.42:0.00,0.89:40,24:29.8,80.3:0,0:0,0:90,118:61,33:22,29:-,NR_024077.2(WASH2P) n.1459+352G>T:-,NOT_FOUND:-,NOT_FOUND 2 114355769 rs11490601 T G 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=80;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:21:0:0:9,12:267,349:24.76,0.00:24.76,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:50,50:34.9,17.7:0,0:0,0:14,71:137,78:14,38:NR_024077.2(WASH2P) n.1460-206T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 114355968 . G A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=179;NP=4;PC=0.002;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,G:179:147:0:0:15,164:482,5198:33.00,0.00:25.78,0.00:7.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,55:85.2,13.0:0,1:0,0:36,54:114,90:31,28:NR_024077.2(WASH2P) n.1460-7G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114355998 rs17857355 C G 61 nt VT=SNV;PN=G;NN=A;SST=Single;DP=198;DB;DBA=NA;PAF=NA;NP=368;PC=1.000;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:198:140:0:0:173,25:5804,813:0.00,60.69:0.00,38.06:0.00,22.63:0.00,1.00:0.00,1.00:0.00,1.00:52,40:11.7,58.4:0,0:0,0:77,22:65,122:27,15:-,NR_024077.2(WASH2P) n.1483C>G:-,NOT_FOUND:-,NOT_FOUND 2 114356066 rs374832940 G A 85 nt VT=SNV;PN=C;NN=C;SST=Single;DP=177;DB;DBA=NA;PAF=NA;NP=167;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:177:110:0:0:36,2,139:1061,30,4250:84.80,-0.01,0.00:13.15,-0.20,0.00:71.64,0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,41,52:36.6,73.5,15.3:0,0,0:0,0,0:119,98,85:31,53,66:21,15,34:NR_024077.2(WASH2P) n.1528+23G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114356198 rs200217121 G A 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.9465,A/0.05351;PC=1.000;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:139:76:0:0:22,117:643,3804:48.54,0.00:15.48,0.00:33.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:73.7,14.6:0,0:0,0:79,84:72,65:32,33:NR_024077.2(WASH2P) n.1543G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114356239 rs11490622 T C 79 nt VT=SNV;PN=G;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=T/0.5262,C/0.4738;NP=147;PC=0.003;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:127:67:0:0:1,32,1,93:9,947,8,2844:-0.26,79.12,-0.27,0.00:-0.13,38.94,-0.13,0.00:-0.13,40.17,-0.14,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:40,40,45,60:39.0,60.8,153.0,9.1:0,0,0,0:0,0,0,0:92,91,5,85:58,58,140,66:0,18,0,36:NR_024077.2(WASH2P) n.1584T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114356302 rs375269415 T C 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=184;PC=0.017;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:118:67:0:0:1,30,87:13,940,2796:-0.14,79.40,0.00:-0.11,43.84,0.00:-0.04,35.56,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,40,60:35.0,51.2,9.4:0,0,0:0,0,0:29,36,69:117,113,77:0,15,29:NR_024077.2(WASH2P) n.1647T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 114356459 rs14883 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=WASH2P/NR_024077.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:C,T:33:1:0:0:28,5:810,169:0.00,13.19:0.00,-0.04:0.00,13.23:0.00,0.79:0.00,0.43:0.00,0.79:53,24:20.8,36.4:0,0:0,0:116,116:34,35:27,13:-,NR_024077.2(WASH2P) n.1804C>T:-,NOT_FOUND:-,NOT_FOUND 2 114369746 rs199646941 CT C 8 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CT/0.6034,C/0.3966;NP=942;PC=0.870;Gene=RPL23AP7/NR_000029.3/0;VC=NonCoding;Gene=RPL23AP7/NR_024528.1/0;VC=NonCoding;Gene=RPL23AP7/NR_024529.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:CT,C:8:7:0:3:5,3:174,88:0.00,7.93:0.00,3.86:0.00,4.07:0.00,0.67:0.00,0.95:0.00,0.93:60,40:0.0,32.3:0,0:0,0:80,90:58,61:13,50:-,NR_024528.1(RPL23AP7) n.551delA:-,0.32:-,NOT_FOUND 2 114385986 rs55649915 C A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4874,A/0.5126;Gene=RABL2A/NM_001306158.1/0;CC=c.-53-145C>A;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.-53-145C>A;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.-57-141C>A;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.-53-145C>A;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.-53-145C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:128:14.71:14.71:0.00:1.00:1.00:0.00:40:64.8:0:0:36:115:13:NM_013412.2(RABL2A) c.-53-145C>A,NM_013412.2(RABL2A) c.-53-145C>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 114386010 rs910461 C T 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.484,T/0.516;PC=0.001;Gene=RABL2A/NM_001306158.1/0;CC=c.-53-121C>T;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.-53-121C>T;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.-57-117C>T;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.-53-121C>T;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.-53-121C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:40:53.2:0:0:47:104:27:NM_013412.2(RABL2A) c.-53-121C>T,NM_013412.2(RABL2A) c.-53-121C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 2 114386172 rs1665303 A G 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=739;PC=0.059;Gene=RABL2A/NM_001306158.1/0;CC=c.-12A>G;VC=5UTR;Gene=RABL2A/NM_001306159.1/0;CC=c.-12A>G;VC=5UTR;Gene=RABL2A/NM_001306161.1/0;CC=c.-12A>G;VC=5UTR;Gene=RABL2A/NM_007082.4/1;CC=c.-12A>G;VC=5UTR;Gene=RABL2A/NM_013412.3/0;CC=c.-12A>G;VC=5UTR;Gene=RABL2A/NM_001306160.1/0;CC=c.-12A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:17:0:0:12,14:384,447:0.00,43.60:0.00,28.22:0.00,15.38:0.00,1.00:0.00,1.00:0.00,0.99:40,42:9.7,34.4:0,0:0,0:60,86:90,65:58,33:-,NM_013412.2(RABL2A) c.-12A>G:-,NOT_FOUND:-,NOT_FOUND 2 114386292 . T . . NT END=114390491;NT GT ./. 2 114386338 rs149500718 G A 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.7931,A/0.2069;NP=543;Gene=RABL2A/NM_001306158.1/0;CC=c.107+48G>A;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.107+48G>A;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.107+48G>A;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.107+48G>A;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.107+48G>A;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.107+48G>A;VC=Intron;DM=RABL2A/Roc;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:11:0:0:8,13:244,437:22.14,0.00:8.54,0.00:13.60,0.00:0.99,0.00:0.99,0.00:1.00,0.00:55,55:33.9,0.0:0,0:0,0:46,96:104,54:33,34:NM_013412.2(RABL2A) c.107+48G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114390523 . T . . NT END=114391729;NT GT ./. 2 114391811 . T . . NT END=114392604;NT GT ./. 2 114391988 rs115060414 C T 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=RABL2A/NM_001306158.1/0;CC=c.217+179C>T;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.217+179C>T;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.217+179C>T;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.217+179C>T;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.217+179C>T;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.217+179C>T;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:208:23.66:0.00:23.66:1.00:0.00:1.00:40:36.5:0:0:71:80:17:NM_013412.2(RABL2A) c.217+179C>T,NM_013412.2(RABL2A) c.217+179C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 2 114391995 rs57719031 GC G 15 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GC/0.4235,G/0.5765;NP=215;Gene=RABL2A/NM_001306158.1/0;CC=c.217+188delC;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.217+188delC;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.217+188delC;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.217+188delC;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.217+188delC;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.217+188delC;VC=Intron;DM=RABL2A/Ras;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:GC,G:7:0:0:5:2,5:69,140:0.00,14.56:0.00,0.00:0.00,14.56:0.00,0.98:0.00,0.00:0.00,0.98:40,42:34.5,31.6:0,0:0,0:97,77:53,74:31,23:-,NM_013412.2(RABL2A) c.217+187delC:-,0.47:-,NOT_FOUND 2 114392709 . T . . NT END=114394875;NT GT ./. 2 114392716 rs146907164 C T 188 nt VT=SNV;PN=A;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=NA;Gene=RABL2A/NM_001306158.1/0;CC=c.297+9C>T;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.297+9C>T;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.217+907C>T;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.297+9C>T;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.297+9C>T;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.297+9C>T;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:127:66:0:0:65,62:2027,1963:0.00,187.57:0.00,54.27:0.00,133.31:0.00,1.00:0.00,1.00:0.00,1.00:51,51:8.9,43.3:0,0:0,0:101,97:34,50:25,24:-,NM_013412.2(RABL2A) c.297+9C>T:-,0.38:-,0.343077 2 114392865 rs58901919 GCTT G 22 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GCTT/0.7865,G/0.2135;DB;DBA=NA;PAF=GCTT/0.7865,G/0.2135;NP=193;Gene=RABL2A/NM_001306158.1/0;CC=c.297+162_297+164delCTT;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.297+162_297+164delCTT;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.217+1060_217+1062delCTT;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.297+162_297+164delCTT;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.297+162_297+164delCTT;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.297+162_297+164delCTT;VC=Intron;DM=RABL2A/Ras;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCTT,G:19:1:0:8:11,8:374,238:0.00,22.00:0.00,-0.24:0.00,22.24:0.00,0.99:0.00,0.61:0.00,1.00:42,40:8.4,16.8:0,0:0,0:109,109:40,42:16,19:-,NM_013412.2(RABL2A) c.297+159_297+161delCTT:-,0.2:-,NOT_FOUND 2 114392905 rs56072816 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7867,A/0.2133;NP=352;PC=0.001;Gene=RABL2A/NM_001306158.1/0;CC=c.297+198G>A;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.297+198G>A;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.217+1096G>A;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.297+198G>A;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.297+198G>A;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.297+198G>A;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,G:11:1:0:0:5,6:168,185:15.89,0.00:-0.13,0.00:16.03,0.00:0.93,0.00:0.64,0.00:0.93,0.00:42,42:36.2,15.3:0,0:0,0:59,57:92,94:21,37:NM_013412.2(RABL2A) c.297+198G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114394782 rs374533440 T A 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=6;Gene=RABL2A/NM_001306158.1/0;CC=c.297+2075T>A;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.297+2075T>A;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.217+2973T>A;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.297+2075T>A;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.297+2075T>A;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.297+2075T>A;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,T:13:13:0:0:7,6:214,168:20.87,0.00:20.87,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:42,42:35.4,23.2:0,0:0,0:64,36:87,114:37,31:NM_013412.2(RABL2A) c.297+2075T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 114395828 rs4849254 C T 145 lc VT=SNV;PN=T;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.7863,T/0.2137;PC=0.067;Gene=RABL2A/NM_001306158.1/0;CC=c.298-2643C>T;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.298-2643C>T;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.218-3102C>T;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.298-2643C>T;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.298-2643C>T;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.298-2643C>T;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:88:0:0:68,50:2256,1560:0.00,144.89:0.00,87.29:0.00,57.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,39.7:0,0:0,0:56,60:88,87:31,34:-,NM_013412.2(RABL2A) c.298-2643C>T:-,0.21:-,NOT_FOUND 2 114396172 rs793068 C T 86 lc VT=SNV;PN=G;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.5948,T/0.4052;PC=0.001;Gene=RABL2A/NM_001306158.1/0;CC=c.298-2299C>T;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.298-2299C>T;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.218-2758C>T;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.298-2299C>T;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.298-2299C>T;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.298-2299C>T;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:22:0:0:32,29:936,901:0.00,85.68:0.00,24.19:0.00,61.50:0.00,1.00:0.00,1.00:0.00,1.00:53,46:14.1,53.0:0,0:0,0:112,110:37,34:16,27:-,NM_013412.2(RABL2A) c.298-2299C>T:-,0.36:-,NOT_FOUND 2 114396211 . t . . NT END=114398470;NT GT ./. 2 114396215 rs793067 T C 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.596,C/0.404;Gene=RABL2A/NM_001306158.1/0;CC=c.298-2256T>C;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.298-2256T>C;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.218-2715T>C;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.298-2256T>C;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.298-2256T>C;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.298-2256T>C;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:6:0:0:19,15:557,493:54.46,0.00:6.89,0.00:47.57,0.00:1.00,0.00:0.99,0.00:1.00,0.00:40,53:70.6,10.1:0,0:0,0:80,134:68,17:35,12:NM_013412.2(RABL2A) c.298-2256T>C,-:0.31,-:NOT_FOUND,- 2 114398584 . T . . NT END=114398929;NT GT ./. 2 114399059 . T . . NT END=114399357;NT GT ./. 2 114399145 rs73955042 G A 192 nt VT=SNV;PN=T;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.7865,A/0.2135;Gene=RABL2A/NM_001306158.1/0;CC=c.507+118G>A;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.507+118G>A;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.315+118G>A;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.504+118G>A;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.504+118G>A;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.534+88G>A;VC=Intron;DM=RABL2A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:101:30:0:0:58,1,42:1943,5,1274:192.39,-0.16,0.00:26.68,-0.05,0.00:165.71,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,51,52:37.3,74.0,17.9:0,0,0:0,0,0:96,109,111:55,42,33:29,0,32:NM_013412.2(RABL2A) c.504+118G>A,-:0.21,-:NOT_FOUND,- 2 114399443 . T . . NT END=114399607;NT GT ./. 2 114399479 rs201618106 C T 73 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=157;Gene=RABL2A/NM_001306158.1/0;CC=c.591+38C>T;VC=Intron;Gene=RABL2A/NM_001306159.1/0;CC=c.591+38C>T;VC=Intron;Gene=RABL2A/NM_001306161.1/0;CC=c.399+38C>T;VC=Intron;Gene=RABL2A/NM_007082.4/1;CC=c.588+38C>T;VC=Intron;Gene=RABL2A/NM_013412.3/0;CC=c.588+38C>T;VC=Intron;Gene=RABL2A/NM_001306160.1/0;CC=c.618+38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:34:0:0:14,23:450,728:0.00,73.13:0.00,66.91:0.00,6.22:0.00,1.00:0.00,1.00:0.00,0.95:40,40:19.4,36.4:0,0:0,0:48,66:102,85:36,36:-,NM_013412.2(RABL2A) c.588+38C>T:-,0.06:-,NOT_FOUND 2 114399708 . G . . NT END=114475329;NT GT ./. 2 114415495 rs150946350 T C 145 nt VT=SNV;PN=C;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.9834,C/0.01657;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:124:109:0:0:50,74:1579,2506:145.43,0.00:87.51,0.00:57.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,6.1:0,0:0,0:60,63:70,77:25,21:chr2 g.114415494T>C (intergenic),-:0.02,-:NOT_FOUND,- 2 114416075 rs13385882 G T 276 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=0.958 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:71:41:0:0:71:2418:275.66:145.75:129.91:1.00:1.00:1.00:52:68.7:0:0:64:87:35:chr2 g.114416074G>T (intergenic),chr2 g.114416074G>T (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 2 114416091 rs13425227 A G 251 nt VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:65:40:0:0:65:2197:250.63:130.28:120.35:1.00:1.00:1.00:58:71.2:0:0:54:96:30:chr2 g.114416090A>G (intergenic),chr2 g.114416090A>G (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 2 114416495 rs13430889 T C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6364,C/0.3636;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:162:18.58:0.00:18.58:1.00:0.00:1.00:43:61.0:0:0:133:17:10:chr2 g.114416494T>C (intergenic),chr2 g.114416494T>C (intergenic):0.34,0.34:NOT_FOUND,NOT_FOUND 2 114424974 rs11677238 T G 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.7494,G/0.2506 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:22:0:0:20,8:647,252:66.97,0.00:41.71,0.00:25.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:51.0,16.2:0,0:0,0:40,51:111,98:21,8:chr2 g.114424973T>G (intergenic),-:0.24,-:NOT_FOUND,- 2 114425263 rs187515355 T C 39 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:333:38.93:38.93:0.00:1.00:1.00:0.00:60:59.5:0:0:77:61:40:chr2 g.114425262T>C (intergenic),chr2 g.114425262T>C (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 2 114425425 rs145764632 C A 146 nt VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.768,A/0.232 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:101:96:0:0:48,53:1533,1613:145.84,0.00:136.79,0.00:9.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,43:42.8,16.4:0,0:0,0:55,67:92,81:35,33:chr2 g.114425424C>A (intergenic),-:0.22,-:NOT_FOUND,- 2 114425685 rs11682527 G T 115 nt VT=SNV;PN=G;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.751,T/0.249;PC=0.096 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:71:28:0:0:35,36:1113,1195:0.00,115.28:0.00,32.13:0.00,83.15:0.00,1.00:0.00,1.00:0.00,1.00:60,63:6.0,41.1:0,0:0,0:102,95:44,55:27,24:-,chr2 g.114425684G>T (intergenic):-,0.25:-,NOT_FOUND 2 114425697 rs145623386 CCA C 91 nt VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=467;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCA,C:60:24:0:30:30,30:909,944:0.00,90.69:0.00,25.69:0.00,65.01:0.00,1.00:0.00,1.00:0.00,1.00:60,63:10.2,46.9:0,0:0,0:110,107:38,42:24,19:-,chr2 g.114425698_114425699delCA (intergenic):-,0.22:-,NOT_FOUND 2 114425866 rs145602254 G A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:17:9:0:0:13,4:425,121:44.64,0.00:25.07,0.00:19.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,40:40.2,30.0:0,0:0,0:86,72:65,78:31,28:chr2 g.114425865G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 114425903 rs367929539 T C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=149 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:24:16:0:0:1,8,15:11,231,450:0.10,20.43,0.00:-0.20,14.77,0.00:0.31,5.67,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.94,0.00:27,40,42:64.0,56.4,28.8:0,0,0:0,0,0:114,42,63:37,101,86:0,34,44:chr2 g.114425902T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 114426115 rs80314553 T C 117 nt VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:91:65:0:0:38,53:1259,1760:117.13,0.00:67.01,0.00:50.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,5.0:0,0:0,0:65,73:82,69:24,32:chr2 g.114426114T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 114475428 . C . . NT END=114476730;NT GT ./. 2 114475652 rs2122096 C G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.006989,G/0.993;PC=0.001;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.1497-225G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:39.2:0:0:113:37:16:NM_025181.2(SLC35F5) c.1497-225G>C,NM_025181.2(SLC35F5) c.1497-225G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 114476582 rs6741521 C A 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6262,A/0.3738;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.1496+149G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:19:0:0:9,10:298,305:28.40,0.00:28.40,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:70,60:47.0,4.6:0,0:0,0:34,44:116,106:17,37:NM_025181.2(SLC35F5) c.1496+149G>T,-:0.38,-:NOT_FOUND,- 2 114476886 . C . . NT END=114480680;NT GT ./. 2 114480772 . C . . NT END=114482954;NT GT ./. 2 114480812 rs397800760 A AAAC 16 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4133,AAAC/0.5867;DB;DBA=NA;PAF=A/0.4133,AAAC/0.5867,AAC/.;DB;DBA=NA;PAF=NA;NP=2179;PC=0.001;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.1251-42_1251-41insGTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,AAAC:19:7:6:0:13,6:421,187:0.00,16.42:0.00,2.72:0.00,13.70:0.00,0.94:0.00,0.91:0.00,0.99:60,60:4.2,18.2:0,0:0,0:98,97:41,51:40,16:-,NM_025181.2(SLC35F5) c.1251-42_1251-41insGTT:-,0.59:-,0.698582 2 114480881 rs73955056 A G 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8023,G/0.1977;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.1251-110T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:11:0:0:0:8,3:270,92:0.00,7.83:0.00,0.00:0.00,7.83:0.00,0.60:0.00,0.00:0.00,0.60:60,60:4.1,41.0:0,0:0,0:94,133:56,18:15,14:-,NM_025181.2(SLC35F5) c.1251-110T>C:-,0.19:-,NOT_FOUND 2 114483115 . C . . NT END=114486977;NT GT ./. 2 114487083 . C . . NT END=114489160;NT GT ./. 2 114489226 . C . . NT END=114492162;NT GT ./. 2 114492135 rs2305254 C T 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6016,T/0.3984;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.920+28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:19:0:0:10,10:321,246:0.00,23.27:0.00,16.67:0.00,6.60:0.00,1.00:0.00,1.00:0.00,0.73:60,60:4.2,44.1:0,0:0,0:39,42:110,103:16,19:-,NM_025181.2(SLC35F5) c.920+28G>A:-,0.4:-,0.521026 2 114492251 . C . . NT END=114493353;NT GT ./. 2 114493151 rs10209098 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4028,G/0.5972;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.832+203T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:6:6:0:0:2,4:65,102:0.00,10.43:0.00,10.43:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:5.5,63.2:0,0:0,0:90,45:60,102:8,21:-,NM_025181.2(SLC35F5) c.832+203T>C:-,0.6:-,NOT_FOUND 2 114493221 rs10172842 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.389,A/0.611;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.832+133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,G:9:9:0:0:7,2:203,53:21.54,0.00:21.54,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.6,22.0:0,0:0,0:85,34:66,117:55,14:NM_025181.2(SLC35F5) c.832+133C>T,-:0.62,-:NOT_FOUND,- 2 114493436 . C . . NT END=114500268;NT GT ./. 2 114493524 rs10199704 C T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6014,T/0.3986;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.751-89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:5:0:0:11,9:347,244:0.00,22.69:0.00,5.47:0.00,17.22:0.00,1.00:0.00,0.94:0.00,1.00:60,60:6.4,38.3:0,0:0,0:123,107:28,44:19,42:-,NM_025181.2(SLC35F5) c.751-89G>A:-,0.4:-,NOT_FOUND 2 114500131 rs13004622 C A 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6016,A/0.3984;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.750+138G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:17:0:0:8,9:241,253:22.80,0.00:22.80,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:52.0,28.4:0,0:0,0:80,71:69,78:21,23:NM_025181.2(SLC35F5) c.750+138G>T,-:0.4,-:NOT_FOUND,- 2 114500457 . C . . NT END=114501289;NT GT ./. 2 114501242 rs3748907 T C 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.8219,C/0.1781;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.562+48A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:20:19:0:0:13,7:427,198:43.31,0.00:34.64,0.00:8.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,12.7:0,0:0,0:56,28:92,121:31,16:NM_025181.2(SLC35F5) c.562+48A>G,-:0.17,-:0.220163,- 2 114501372 . C . . NT END=114503853;NT GT ./. 2 114503917 . C . . NT END=114508001;NT GT ./. 2 114508146 . C . . NT END=114512741;NT GT ./. 2 114512478 rs11897553 T A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.602,A/0.398;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.273+264A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,T:8:8:0:0:5,3:160,94:16.09,0.00:16.09,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:32.0,3.3:0,0:0,0:53,9:98,141:39,6:NM_025181.2(SLC35F5) c.273+264A>T,-:0.39,-:NOT_FOUND,- 2 114512514 rs35217717 C CT 22 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8037,CT/0.1963;NP=48;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.273+227dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,CT:12:12:7:0:5,7:173,219:0.00,21.70:0.00,21.70:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:36.4,31.6:0,0:0,0:39,50:112,101:12,39:-,NM_025181.2(SLC35F5) c.273+227_273+228insA:-,0.19:-,NOT_FOUND 2 114512884 . C . . NT END=114513030;NT GT ./. 2 114513122 . C . . NT END=114513431;NT GT ./. 2 114513386 rs7578249 C T 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.5901,T/0.4099;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.41-265G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:51:47:0:0:1,26,1,23:11,795,6,754:-0.00,0.00,-0.16,71.64:0.05,0.00,-0.11,65.99:-0.05,0.00,-0.05,5.65:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:41.0,11.5,64.0,49.3:0,0,0,0:0,0,0,0:37,33,114,39:114,118,37,109:0,21,0,24:-,NM_025181.2(SLC35F5) c.41-265G>A:-,0.41:-,NOT_FOUND 2 114513787 rs4538208 C G 490 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.134,G/0.866;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.40+160G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:140:105:0:0:1,139:12,4245:0.12,490.01:0.12,277.52:0.00,212.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:124.0,38.5:0,0:0,0:125,67:26,80:0,35:NM_025181.2(SLC35F5) c.40+160G>C,NM_025181.2(SLC35F5) c.40+160G>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 114514098 rs7592689 A C 320 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=A/0.5921,C/0.4079;PC=0.018;Gene=SLC35F5/NR_104470.1/0;VC=NonCoding;Gene=SLC35F5/NM_025181.3/1;CC=c.-112T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:167:71:0:0:67,99,1:2050,3215,9:0.00,320.10,-0.13:0.00,95.88,0.00:0.00,224.22,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.5,39.4,152.0:0,0,0:0,0,0:91,99,32:56,49,116:32,36,0:-,NM_025181.2(SLC35F5) c.=:-,0.4:-,NOT_FOUND 2 114514117 . G . . NT END=114647856;NT GT ./. 2 114514298 rs6732182 C T 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8273,T/0.1727;Gene=SLC35F5/NM_025181.3/1;CC=c.-312G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:7,11:206,360:0.00,36.02:0.00,0.00:0.00,36.02:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.4,81.5:0,0:0,0:73,91:76,60:49,40:-,NM_025181.2(SLC35F5) c.=:-,0.17:-,NOT_FOUND 2 114514338 rs6542171 T G 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5917,G/0.4083;Gene=SLC35F5/NM_025181.3/1;CC=c.-352A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:13:0:0:0:7,6:249,194:24.34,0.00:0.00,0.00:24.34,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:90.4,1.7:0,0:0,0:105,77:46,73:26,34:NM_025181.2(SLC35F5) c.=,-:0.41,-:NOT_FOUND,- 2 114514391 rs3890789 T G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3842,G/0.6158;Gene=SLC35F5/NM_025181.3/1;CC=c.-405A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:G,T:7:0:0:0:3,4:102,121:9.56,0.00:0.00,0.00:9.56,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:114.7,2.5:0,0:0,0:104,94:47,56:1,25:NM_025181.2(SLC35F5) c.=,-:0.62,-:NOT_FOUND,- 2 114647901 . G . . NT END=114648174;NT GT ./. 2 114648356 . G . . NT END=114670748;NT GT ./. 2 114670805 . G . . NT END=114674460;NT GT ./. 2 114674586 . G . . NT END=114684921;NT GT ./. 2 114684848 rs3748997 T C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.906,C/0.09405;Gene=ACTR3/NM_005721.4/1;CC=c.226-74T>C;VC=Intron;Gene=ACTR3/NR_102318.1/0;VC=NonCoding;Gene=ACTR3/NM_001277140.1/0;CC=c.73-74T>C;VC=Intron;DM=ACTR3/Actin;DM=ACTR3/Actin;DM=ACTR3/Actin;DM=ACTR3/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:C,G,T:16:16:0:0:3,1,12:95,22,372:7.68,1.15,0.00:7.81,1.19,0.00:-0.13,-0.04,0.00:0.54,0.00,0.00:0.54,0.00,0.00:0.51,0.00,0.00:60,60,60:41.3,142.0,4.2:0,0,0:0,0,0:66,21,36:85,129,114:23,0,24:NM_005721.3(ACTR3) c.226-74T>C,-:0.12,-:NOT_FOUND,- 2 114685033 . G . . NT END=114688877;NT GT ./. 2 114688974 . G . . NT END=114691855;NT GT ./. 2 114691964 . G . . NT END=114697535;NT GT ./. 2 114697365 rs17197639 C G 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.899,G/0.101;Gene=ACTR3/NM_005721.4/1;CC=c.541-171C>G;VC=Intron;Gene=ACTR3/NR_102318.1/0;VC=NonCoding;Gene=ACTR3/NM_001277140.1/0;CC=c.388-171C>G;VC=Intron;DM=ACTR3/Actin;DM=ACTR3/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,G:10:10:0:0:6,4:206,81:0.00,7.04:0.00,7.04:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:1.7,44.8:0,0:0,0:11,80:138,71:5,22:-,NM_005721.3(ACTR3) c.541-171C>G:-,0.12:-,NOT_FOUND 2 114697516 rs35820702 A G 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.9617,G/0.03834;Gene=ACTR3/NM_005721.4/1;CC=c.541-20A>G;VC=Intron;Gene=ACTR3/NR_102318.1/0;VC=NonCoding;Gene=ACTR3/NM_001277140.1/0;CC=c.388-20A>G;VC=Intron;DM=ACTR3/Actin;DM=ACTR3/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:26:0:0:15,14:480,482:0.00,46.16:0.00,34.25:0.00,11.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,37.7:0,0:0,0:30,73:115,77:21,20:-,NM_005721.3(ACTR3) c.541-20A>G:-,0.04:-,0.059434 2 114697680 . G . . NT END=114699762;NT GT ./. 2 114699937 . G . . NT END=114709055;NT GT ./. 2 114709149 . G . . NT END=114709296;NT GT ./. 2 114709423 . G . . NT END=114713199;NT GT ./. 2 114713284 . G . . NT END=114714936;NT GT ./. 2 114713366 rs149313795 C A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.991,A/0.008986;PC=0.001;Gene=ACTR3/NM_005721.4/1;CC=c.1161+83C>A;VC=Intron;Gene=ACTR3/NR_102318.1/0;VC=NonCoding;Gene=ACTR3/NM_001277140.1/0;CC=c.1008+83C>A;VC=Intron;DM=ACTR3/Actin;DM=ACTR3/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:A,C:11:2:0:0:7,4:207,133:20.86,0.00:5.57,0.00:15.29,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:45.6,6.0:0,0:0,0:53,81:97,69:32,38:NM_005721.3(ACTR3) c.1161+83C>A,-:0.01,-:NOT_FOUND,- 2 114715033 . A . . NT END=115200355;NT GT ./. 2 114821709 rs67460033 TACACACAC T 13 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TACACACAC/0.3796,T/0.6204;DB;DBA=NA;PAF=TACACACAC/0.3796,T/0.6204;NP=156;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TACACACAC,T:6:5:0:5:2,4:67,150:0.00,13.20:0.00,8.03:0.00,5.17:0.00,0.90:0.00,0.98:0.00,0.97:60,60:16.5,50.8:0,1:0,0:124,60:26,91:10,19:-,chr2 g.114821710_114821717delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 115102554 rs4527209 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.04792,C/0.9521;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:169:19.28:11.78:7.50:1.00:1.00:1.00:60:58.8:0:0:37:75:27:chr2 g.115102553T>C (intergenic),chr2 g.115102553T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 115200416 . G . . NT END=115219179;NT GT ./. 2 115200657 rs10180693 A T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4778,G/.,T/0.5222;Gene=DPP10/NM_020868.3/0;CC=c.60+242A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:72.8:0:0:75:69:20:NM_020868.3(DPP10) c.60+242A>T,NM_020868.3(DPP10) c.60+242A>T:0.51,0.51:NOT_FOUND,NOT_FOUND 2 115218975 rs4849337 C T 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5074,T/0.4926;Gene=DPP10/NM_020868.3/0;CC=c.60+18560C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:C,T:7:7:0:0:2,5:60,156:0.00,16.17:0.00,16.17:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:20.5,70.2:0,0:0,0:48,37:102,114:14,20:-,NM_020868.3(DPP10) c.60+18560C>T:-,0.55:-,NOT_FOUND 2 115219076 rs57006859 C T 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7975,T/0.2025;Gene=DPP10/NM_020868.3/0;CC=c.60+18661C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:21:0:0:14,8:417,261:0.00,23.66:0.00,20.23:0.00,3.44:0.00,0.99:0.00,1.00:0.00,0.58:60,60:25.0,34.5:0,0:0,0:42,50:106,100:32,19:-,NM_020868.3(DPP10) c.60+18661C>T:-,0.18:-,NOT_FOUND 2 115219528 rs17712682 G A 168 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.883,A/0.117;Gene=DPP10/NM_020868.3/0;CC=c.60+19113G>A;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-312G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:133:87:0:0:59,74:1798,2346:168.23,0.00:90.02,0.00:78.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,13.6:0,0:0,0:97,78:54,72:31,39:NM_001178036.1(DPP10) c.-312G>A,-:0.15,-:NOT_FOUND,- 2 115219718 . G . . NT END=115822246;NT GT ./. 2 115278828 rs62165187 G GACAC 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=75;PC=0.019;Gene=DPP10/NM_020868.3/0;CC=c.60+78450_60+78451insCACA;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-91+57862_-91+57863insCACA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GACAC:4:3:3:0:1,3:36,96:0.00,10.05:0.00,5.13:0.00,4.93:0.00,0.85:0.00,0.99:0.00,0.99:60,60:33.0,12.3:0,0:0,0:120,32:31,99:0,20:-,NM_020868.3(DPP10) c.60+78413_60+78414insACAC:-,NOT_FOUND:-,NOT_FOUND 2 115410602 rs79061703 A T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.015;Gene=DPP10/NM_020868.3/0;CC=c.60+210187A>T;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-91+189599A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,T:6:3:0:0:4,2:116,70:0.00,6.30:0.00,-0.44:0.00,6.74:0.00,0.42:0.00,0.73:0.00,0.81:60,60:18.8,168.5:1,0:0,0:82,93:55,56:16,16:-,NM_020868.3(DPP10) c.60+210187A>T:-,NOT_FOUND:-,NOT_FOUND 2 115410604 rs34619030 A T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=2;NP=45;NP=6;NP=62;PC=0.002;Gene=DPP10/NM_020868.3/0;CC=c.60+210189A>T;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-91+189601A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,T,D:6:3:0:1:3,2,1:104,70,33:0.00,6.47,2.76:0.00,-0.26,2.88:0.00,6.74,-0.12:0.00,0.42,0.00:0.00,0.73,0.00:0.00,0.81,0.00:60,60,60:25.0,168.5,0.0:0,0,0:0,0,0:85,95,49:39,54,102:2,16,0:-,NM_020868.3(DPP10) c.60+210189A>T:-,NOT_FOUND:-,NOT_FOUND 2 115822241 rs59975834 G C 144 nt VT=SNV;PN=A;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.9065,A/.,C/0.09345;Gene=DPP10/NM_020868.3/0;CC=c.61-244574G>C;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-90-244574G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:97:73:0:0:46,51:1511,1678:143.91,0.00:81.83,0.00:62.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,14.1:0,0:0,0:59,72:88,79:20,24:NM_020868.3(DPP10) c.61-244574G>C,-:0.08,-:NOT_FOUND,- 2 115822383 . G . . NT END=115919512;NT GT ./. 2 115919606 . G . . NT END=115919683;NT GT ./. 2 115919677 rs7557011 C G 522 nt VT=SNV;PN=G;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.02177,G/0.9782;PC=0.011;Gene=DPP10/NM_020868.3/0;CC=c.61-147138C>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-90-147138C>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.48+97295C>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.72+72C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:142:92:0:0:140,2:4564,19:522.13,0.24:265.83,0.11:256.29,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.0,161.0:0,0:0,0:66,39:80,112:37,1:NM_001178034.1(DPP10) c.72+72C>G,NM_001178034.1(DPP10) c.72+72C>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 115919678 rs7573359 T C 541 nt VT=SNV;PN=C;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=T/0.003594,C/0.9964;PC=0.014;Gene=DPP10/NM_020868.3/0;CC=c.61-147137T>C;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-90-147137T>C;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.48+97296T>C;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.72+73T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:142:91:0:0:1,141:12,4742:0.12,540.91:0.12,283.84:0.00,257.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:124.0,76.8:0,0:0,0:132,72:19,76:0,38:NM_001178034.1(DPP10) c.72+73T>C,NM_001178034.1(DPP10) c.72+73T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 115919850 . G . . NT END=116066814;NT GT ./. 2 116066599 rs975454 C T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.753,T/0.247;Gene=DPP10/NM_020868.3/0;CC=c.61-216C>T;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.-90-216C>T;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.49-216C>T;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.73-216C>T;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.40-216C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:9:9:0:0:5,4:167,129:0.00,12.12:0.00,12.12:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:19.8,45.0:0,0:0,0:81,42:70,108:52,24:-,NM_001178034.1(DPP10) c.73-216C>T:-,0.24:-,NOT_FOUND 2 116066930 . G . . NT END=116101392;NT GT ./. 2 116066984 rs975453 G A 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.2496,A/0.7504;PC=0.986;Gene=DPP10/NM_020868.3/0;CC=c.175+55G>A;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.25+55G>A;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.163+55G>A;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.187+55G>A;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.154+55G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:2:0:0:16,18:422,545:39.57,0.00:2.27,0.00:37.29,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:35.5,10.7:0,0:0,0:101,92:50,58:35,35:NM_001178034.1(DPP10) c.187+55G>A,-:0.77,-:NOT_FOUND,- 2 116101489 . G . . NT END=116257085;NT GT ./. 2 116257181 . G . . NT END=116283473;NT GT ./. 2 116283549 . G . . NT END=116447262;NT GT ./. 2 116283668 rs984066 G A 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.764,A/0.236;Gene=DPP10/NM_020868.3/0;CC=c.441+120G>A;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.291+120G>A;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.429+120G>A;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.453+120G>A;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.420+120G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:12:0:0:0:7,5:242,157:24.00,0.00:0.00,0.00:24.00,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:54.0,2.4:0,0:0,0:112,133:39,18:32,15:NM_001178034.1(DPP10) c.453+120G>A,-:0.24,-:NOT_FOUND,- 2 116283728 rs9677307 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9938,G/0.00619;NP=8;Gene=DPP10/NM_020868.3/0;CC=c.441+180A>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.291+180A>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.429+180A>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.453+180A>G;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.420+180A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:177:20.52:0.00:20.52:1.00:0.00:1.00:60:76.5:0:0:58:93:50:NM_001178034.1(DPP10) c.453+180A>G,NM_001178034.1(DPP10) c.453+180A>G:0.0041,0.0041:NOT_FOUND,NOT_FOUND 2 116360698 rs139814697 CTGTG C 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=113;Gene=DPP10/NM_020868.3/0;CC=c.441+77194_441+77197delGTGT;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.291+77194_291+77197delGTGT;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.429+77194_429+77197delGTGT;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.453+77194_453+77197delGTGT;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.420+77194_420+77197delGTGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CTGTG,C:4:3:0:3:1,3:35,95:0.00,9.95:0.00,8.68:0.00,1.27:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,14.3:0,0:0,0:67,54:42,94:0,14:-,NM_001178034.1(DPP10) c.453+77151_453+77154delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 116447316 . G . . NT END=116447415;NT GT ./. 2 116447498 . G . . NT END=116485391;NT GT ./. 2 116464997 rs35961586 TAC T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TAC/0.5601,T/0.4399;NP=29;Gene=DPP10/NM_020868.3/0;CC=c.576+17541_576+17542delAC;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.426+17541_426+17542delAC;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.564+17541_564+17542delAC;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.588+17541_588+17542delAC;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.555+17541_555+17542delAC;VC=Intron;DM=DPP10/DPPIV_N;DM=DPP10/DPPIV_N;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:TAC,T:6:6:0:3:3,3:75,98:0.00,9.45:0.00,6.31:0.00,3.14:0.00,0.73:0.00,0.73:0.00,0.51:60,60:49.3,39.3:0,0:0,0:64,55:62,90:25,18:-,NM_001178034.1(DPP10) c.588+17501_588+17502delAC:-,NOT_FOUND:-,NOT_FOUND 2 116465065 rs6744360 C A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1004,A/0.8996;PC=0.028;Gene=DPP10/NM_020868.3/0;CC=c.576+17568C>A;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.426+17568C>A;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.564+17568C>A;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.588+17568C>A;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.555+17568C>A;VC=Intron;DM=DPP10/DPPIV_N;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:0:6:205:23.36:7.75:15.61:1.00:1.00:1.00:60:70.7:0:0:90:39:25:NM_001178034.1(DPP10) c.588+17568C>A,NM_001178034.1(DPP10) c.588+17568C>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 116485513 . G . . NT END=116497314;NT GT ./. 2 116497470 . G . . NT END=116503661;NT GT ./. 2 116497479 rs1550854 A G 159 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.04513,G/0.9549;Gene=DPP10/NM_020868.3/0;CC=c.852+10A>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.702+10A>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.840+10A>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.864+10A>G;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.831+10A>G;VC=Intron;DM=DPP10/DPPIV_N;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:14:0:0:44:1382:158.97:27.42:131.54:1.00:1.00:1.00:60:53.1:0:0:93:49:28:NM_001178034.1(DPP10) c.864+10A>G,NM_001178034.1(DPP10) c.864+10A>G:0.96,0.96:0.955867,0.955867 2 116497528 rs1550853 A G 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.02915,G/0.9708;PC=0.013;Gene=DPP10/NM_020868.3/0;CC=c.852+59A>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.702+59A>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.840+59A>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.864+59A>G;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.831+59A>G;VC=Intron;DM=DPP10/DPPIV_N;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:6:0:0:26:762:88.51:12.24:76.26:1.00:1.00:1.00:60:72.0:0:0:111:38:21:NM_001178034.1(DPP10) c.864+59A>G,NM_001178034.1(DPP10) c.864+59A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 116503760 . G . . NT END=116507565;NT GT ./. 2 116507349 rs895492 C T 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.04333,T/0.9567;Gene=DPP10/NM_020868.3/0;CC=c.951-3401C>T;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.801-3401C>T;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.939-3401C>T;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.963-3401C>T;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.930-3401C>T;VC=Intron;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:469:53.57:53.57:0.00:1.00:1.00:0.00:60:47.4:0:0:59:92:34:NM_001178034.1(DPP10) c.963-3401C>T,NM_001178034.1(DPP10) c.963-3401C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 116507770 . G . . NT END=116510749;NT GT ./. 2 116510874 . G . . NT END=116520147;NT GT ./. 2 116511145 rs7587585 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7179,A/0.2821;Gene=DPP10/NM_020868.3/0;CC=c.1074+272G>A;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.924+272G>A;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1062+272G>A;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1086+272G>A;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1053+272G>A;VC=Intron;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:200:22.86:0.00:22.86:1.00:0.00:1.00:60:41.3:0:0:102:48:39:NM_001178034.1(DPP10) c.1086+272G>A,NM_001178034.1(DPP10) c.1086+272G>A:0.27,0.27:NOT_FOUND,NOT_FOUND 2 116520187 . G . . NT END=116525872;NT GT ./. 2 116525960 rs1446495 G A 243 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.03095,A/0.969;PC=1.000;Gene=DPP10/NM_020868.3/0;CC=c.1201G>A;ProtCh=p.V401I;VC=Missense;Gene=DPP10/NM_001178036.1/1;CC=c.1051G>A;ProtCh=p.V351I;VC=Missense;Gene=DPP10/NM_001178037.1/0;CC=c.1189G>A;ProtCh=p.V397I;VC=Missense;Gene=DPP10/NM_001178034.1/0;CC=c.1213G>A;ProtCh=p.V405I;VC=Missense;Gene=DPP10/NM_001004360.3/0;CC=c.1180G>A;ProtCh=p.V394I;VC=Missense;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:37:0:0:66:2117:243.04:103.49:139.55:1.00:1.00:1.00:60:39.9:0:0:98:44:28:NM_001178034.1(DPP10) c.=,NM_001178034.1(DPP10) c.=:0.97,0.97:0.969245,0.969245 2 116525981 . G . . NT END=116534783;NT GT ./. 2 116531785 rs62156289 T TAC 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=57;NP=6;Gene=DPP10/NM_020868.3/0;CC=c.1222-2967_1222-2966insAC;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1072-2967_1072-2966insAC;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1210-2967_1210-2966insAC;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1234-2967_1234-2966insAC;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1201-2967_1201-2966insAC;VC=Intron;DM=DPP10/DPPIV_N;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:T,TAC:5:3:3:0:2,3:13,101:0.00,10.19:0.00,7.21:0.00,2.98:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,0.0:0,0:0,0:91,35:33,109:1,22:-,NM_001178034.1(DPP10) c.1234-2999_1234-2998insAC:-,NOT_FOUND:-,NOT_FOUND 2 116534876 . G . . NT END=116535362;NT GT ./. 2 116534922 rs1374271 A G 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7175,G/0.2825;PC=0.116;Gene=DPP10/NM_020868.3/0;CC=c.1313+47A>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1163+47A>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1301+47A>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1325+47A>G;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1292+47A>G;VC=Intron;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:2:0:0:17:576:65.71:6.12:59.59:1.00:1.00:1.00:60:54.8:0:0:105:46:33:NM_001178034.1(DPP10) c.1325+47A>G,NM_001178034.1(DPP10) c.1325+47A>G:0.27,0.27:0.280255,0.280255 2 116535086 rs2421339 T C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.03874,C/0.9613;Gene=DPP10/NM_020868.3/0;CC=c.1313+211T>C;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1163+211T>C;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1301+211T>C;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1325+211T>C;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1292+211T>C;VC=Intron;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:3:0:0:8:246:28.39:11.73:16.66:1.00:1.00:1.00:60:43.8:0:0:96:54:35:NM_001178034.1(DPP10) c.1325+211T>C,NM_001178034.1(DPP10) c.1325+211T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 116535411 . G . . NT END=116538449;NT GT ./. 2 116538204 rs10173956 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.02776,C/0.9722;Gene=DPP10/NM_020868.3/0;CC=c.1362-246T>C;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1212-246T>C;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1350-246T>C;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1374-246T>C;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1341-246T>C;VC=Intron;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:212:24.06:24.06:0.00:1.00:1.00:0.00:60:46.2:0:0:49:102:25:NM_001178034.1(DPP10) c.1374-246T>C,NM_001178034.1(DPP10) c.1374-246T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 116538572 . G . . NT END=116539927;NT GT ./. 2 116539846 rs397781947 GA G 59 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=GA/0.6338,G/0.3662;DB;DBA=NA;PAF=GA/0.6338,G/0.3662;NP=1104;Gene=DPP10/NM_020868.3/0;CC=c.1484-76delA;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1334-76delA;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1472-76delA;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1496-76delA;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1463-76delA;VC=Intron;DM=DPP10/DPPIV_N;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:GA,G:18:17:0:17:1,17:12,523:0.00,58.87:0.00,46.88:0.00,11.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,3.3:0,0:0,0:148,29:2,122:0,19:NM_001178034.1(DPP10) c.1496-81delA,NM_001178034.1(DPP10) c.1496-81delA:0.33,0.33:NOT_FOUND,NOT_FOUND 2 116539976 . G . . NT END=116548656;NT GT ./. 2 116548526 rs6735355 A G 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1647,G/0.8353;Gene=DPP10/NM_020868.3/0;CC=c.1532-131A>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1382-131A>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1520-131A>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1544-131A>G;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1511-131A>G;VC=Intron;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:530:60.63:60.63:0.00:1.00:1.00:0.00:60:40.4:0:0:33:117:16:NM_001178034.1(DPP10) c.1544-131A>G,NM_001178034.1(DPP10) c.1544-131A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 116548756 . G . . NT END=116548862;NT GT ./. 2 116548820 rs3738879 C T 242 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.1685,T/0.8315;PC=0.774;Gene=DPP10/NM_020868.3/0;CC=c.1631-43C>T;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1481-43C>T;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1619-43C>T;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1643-43C>T;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1610-43C>T;VC=Intron;DM=DPP10/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:66:31:0:0:66:2105:241.96:86.94:155.03:1.00:1.00:1.00:60:35.1:0:0:64:85:36:NM_001178034.1(DPP10) c.1643-43C>T,NM_001178034.1(DPP10) c.1643-43C>T:0.85,0.85:0.786692,0.786692 2 116548933 . G . . NT END=116572368;NT GT ./. 2 116572564 . G . . NT END=116573250;NT GT ./. 2 116573306 . G . . NT END=116593732;NT GT ./. 2 116593675 rs142735411 ATG A 31 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=327;PC=0.001;Gene=DPP10/NM_020868.3/0;CC=c.1951-41_1951-40delTG;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1801-41_1801-40delTG;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1939-41_1939-40delTG;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1963-41_1963-40delTG;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1930-41_1930-40delTG;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATG,A:24:22:0:12:13,11:379,332:0.00,31.27:0.00,24.38:0.00,6.89:0.00,1.00:0.00,1.00:0.00,0.99:60,60:22.3,23.9:0,0:0,0:29,36:122,115:14,19:-,NM_001178034.1(DPP10) c.1963-57_1963-56delTG:-,NOT_FOUND:-,NOT_FOUND 2 116593695 rs71989035 GAT G 8 end,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;Gene=DPP10/NM_020868.3/0;CC=c.1951-15_1951-14delAT;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1801-15_1801-14delAT;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1939-15_1939-14delAT;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1963-15_1963-14delAT;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1930-15_1930-14delAT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:GAT,T,G:30:27:0:7:23,3,4:765,94,110:0.00,6.78,8.00:0.00,5.67,7.25:0.00,1.11,0.74:0.00,0.00,0.64:0.00,0.00,0.94:0.00,0.00,0.75:60,60,60:21.3,56.0,22.2:6,0,0:0,0,0:43,29,10:105,121,140:14,2,1:-,NM_001178034.1(DPP10) c.1963-37_1963-36delAT:-,NOT_FOUND:-,NOT_FOUND 2 116593697 rs143870784 T G 15 idl;mq,nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=2;Gene=DPP10/NM_020868.3/0;CC=c.1951-36T>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1801-36T>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1939-36T>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1963-36T>G;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1930-36T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:G,T:25:23:0:7:6,19:186,631:15.48,0.00:13.28,0.00:2.20,0.00:0.92,0.00:0.99,0.00:0.90,0.00:3,60:13.7,30.3:6,0:0,0:48,37:103,106:9,19:NM_001178034.1(DPP10) c.1963-36T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 116593699 . T G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;NP=2;PC=0.004;Gene=DPP10/NM_020868.3/0;CC=c.1951-34T>G;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.1801-34T>G;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.1939-34T>G;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.1963-34T>G;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.1930-34T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:33:30:0:0:3,30:100,923:7.08,0.00:7.38,0.00:-0.30,0.00:0.41,0.00:0.86,0.00:0.60,0.00:60,60:20.7,24.9:3,10:0,0:25,38:125,106:4,21:NM_001178034.1(DPP10) c.1963-34T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 116593833 . G . . NT END=116594082;NT GT ./. 2 116594142 . G . . NT END=116594249;NT GT ./. 2 116594323 . G . . NT END=116598325;NT GT ./. 2 116598400 . G . . NT END=116599786;NT GT ./. 2 116598546 rs272011 G A 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2027,A/0.7973;Gene=DPP10/NM_020868.3/0;CC=c.2256+147G>A;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.2106+147G>A;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.2244+147G>A;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.2268+147G>A;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.2235+147G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:299:35.06:0.00:35.06:1.00:0.00:1.00:60:34.9:0:0:71:79:37:NM_001178034.1(DPP10) c.2268+147G>A,NM_001178034.1(DPP10) c.2268+147G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 116599659 rs272010 A T 99 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.1633,T/0.8367;Gene=DPP10/NM_020868.3/0;CC=c.2257-128A>T;VC=Intron;Gene=DPP10/NM_001178036.1/1;CC=c.2107-128A>T;VC=Intron;Gene=DPP10/NM_001178037.1/0;CC=c.2245-128A>T;VC=Intron;Gene=DPP10/NM_001178034.1/0;CC=c.2269-128A>T;VC=Intron;Gene=DPP10/NM_001004360.3/0;CC=c.2236-128A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:29:0:0:29:850:98.73:93.07:5.67:1.00:1.00:1.00:60:41.6:0:0:71:80:42:NM_001178034.1(DPP10) c.2269-128A>T,NM_001178034.1(DPP10) c.2269-128A>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 116599922 . T . . NT END=118572353;NT GT ./. 2 116599927 rs272009 T C 211 nt VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.01737,C/0.9826;PC=0.312;Gene=DPP10/NM_020868.3/0;CC=c.*6T>C;VC=3UTR;Gene=DPP10/NM_001178036.1/1;CC=c.*6T>C;VC=3UTR;Gene=DPP10/NM_001178037.1/0;CC=c.*6T>C;VC=3UTR;Gene=DPP10/NM_001178034.1/0;CC=c.*6T>C;VC=3UTR;Gene=DPP10/NM_001004360.3/0;CC=c.*6T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:174:C:62:35:0:0:62:1821:211.33:81.58:129.75:1.00:1.00:1.00:60:36.5:0:0:84:59:26:NM_001178034.1(DPP10) c.*6T>C,NM_001178034.1(DPP10) c.*6T>C:0.98,0.98:0.982777,0.982777 2 117241470 rs59435890 CCACA C 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;PC=0.011;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:3:0:4:2:135:7.15:3.58:3.58:0.51:0.89:0.89:60:0.0:2:0:65:74:10:chr2 g.117241471_117241474delCACA (intergenic),chr2 g.117241471_117241474delCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 117524068 rs537889897 T TCACA 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8363,TCACA/0.1637;NP=13;NP=63;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:T,TCACA:3:3:3:0:1,2:34,96:0.00,6.75:0.00,5.16:0.00,1.59:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,29.0:0,1:0,0:9,45:110,106:0,26:-,chr2 g.117524068_117524069insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 117580999 rs147037463 GGTGTGTGT G 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=64;PC=0.926;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:GGTGTGTGT,G:5:4:0:3:2,3:72,99:0.00,9.87:0.00,4.88:0.00,4.98:0.00,0.78:0.00,0.97:0.00,0.97:60,60:5.0,6.7:0,0:0,0:91,76:59,75:13,16:-,chr2 g.117581000_117581007delGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 118100718 rs71396013 TACACAC T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=47;PC=0.022;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TACACAC,T:4:3:0:3:1,3:34,65:0.00,6.90:0.00,2.47:0.00,4.43:0.00,0.85:0.00,0.99:0.00,0.95:27,60:0.0,19.3:0,0:0,0:109,77:34,44:0,2:-,chr2 g.118100719_118100724delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 118572439 . G . . NT END=118575019;NT GT ./. 2 118575215 rs1052637 C G 297 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.5731,G/0.4269;PC=0.055;Gene=DDX18/NM_006773.3/1;CC=c.281C>G;ProtCh=p.T94S;VC=Missense;DM=DDX18/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:47:0:0:80:2595:297.41:134.06:163.35:1.00:1.00:1.00:60:42.2:0:0:74:72:34:NM_006773.3(DDX18) c.281C>G (p.Thr94Ser),NM_006773.3(DDX18) c.281C>G (p.Thr94Ser):0.38,0.38:0.437788,0.437788 2 118575305 . G . . NT END=118577224;NT GT ./. 2 118575468 rs6737733 C T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.6514,T/0.3486;Gene=DDX18/NM_006773.3/1;CC=c.370+164C>T;VC=Intron;DM=DDX18/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:C,T:13:0:0:0:7,6:197,180:0.00,16.95:0.00,0.00:0.00,16.95:0.00,0.97:0.00,0.00:0.00,0.97:60,60:6.1,47.2:0,0:0,0:90,94:60,56:43,21:-,NM_006773.3(DDX18) c.370+164C>T:-,0.3:-,NOT_FOUND 2 118577369 . G . . NT END=118578736;NT GT ./. 2 118578691 rs397839964 TA T 152 rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=TA/0.268,T/0.732;DB;DBA=NA;PAF=TA/0.268,T/0.732;NP=3095;Gene=DDX18/NM_006773.3/1;CC=c.515-37delA;VC=Intron;DM=DDX18/Helicase_C;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:T:41:38:0:41:41:1325:152.05:126.16:25.89:1.00:1.00:1.00:70:3.2:0:0:36:100:23:NM_006773.3(DDX18) c.515-45delA,NM_006773.3(DDX18) c.515-45delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 118578873 . G . . NT END=118579225;NT GT ./. 2 118579145 rs10515923 G A 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.9457,A/0.05431;Gene=DDX18/NM_006773.3/1;CC=c.651-81G>A;VC=Intron;DM=DDX18/DEAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:34:0:0:21,20:676,587:65.32,0.00:52.79,0.00:12.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,9.4:0,0:0,0:65,31:86,119:39,25:NM_006773.3(DDX18) c.651-81G>A,-:0.07,-:NOT_FOUND,- 2 118579327 . G . . NT END=118579437;NT GT ./. 2 118579638 . G . . NT END=118579722;NT GT ./. 2 118579838 . G . . NT END=118582144;NT GT ./. 2 118582285 . G . . NT END=118582515;NT GT ./. 2 118582678 . G . . NT END=118583022;NT GT ./. 2 118582936 rs372699859 A ATAAAG 145 idl,nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.1917,ATAAAG/0.8083;DB;DBA=NA;PAF=NA;NP=8;Gene=DDX18/NM_006773.3/1;CC=c.1369-85_1369-84insAAGTA;VC=Intron;DM=DDX18/Helicase_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:A,G,ATAAAG:44:43:43:0:1,2,41:28,61,1340:0.00,4.31,144.51:0.00,2.19,129.66:0.00,2.11,14.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:0.0,101.5,13.1:0,0,2:0,0,0:148,10,57:2,140,91:0,8,29:NM_006773.3(DDX18) c.1369-87_1369-86insTAAAG,NM_006773.3(DDX18) c.1369-87_1369-86insTAAAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 118583176 . G . . NT END=118583844;NT GT ./. 2 118583249 rs17047457 G A 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.9263,A/0.07368;Gene=DDX18/NM_006773.3/1;CC=c.1521+74G>A;VC=Intron;DM=DDX18/Helicase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:53:4:0:0:22,30,1:751,892,12:70.23,0.00,0.01:7.12,0.00,-0.00:63.11,0.00,0.02:1.00,0.00,0.00:0.88,0.00,0.00:1.00,0.00,0.00:60,60,60:38.0,14.1,29.0:0,0,0:0,0,0:72,94,142:78,56,9:38,33,0:NM_006773.3(DDX18) c.1521+74G>A,-:0.08,-:NOT_FOUND,- 2 118583959 . G . . NT END=118586524;NT GT ./. 2 118586582 . G . . NT END=118586864;NT GT ./. 2 118587043 . G . . NT END=118588157;NT GT ./. 2 118588301 . A . . NT END=118593029;NT GT ./. 2 118593193 . G . . NT END=118593960;NT GT ./. 2 118593976 . T TG 97 lc VT=INS;SST=Single;DP=292;NP=20;PC=0.001;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TG:292:248:44:0:3,245,44:42,8201,1296:-0.04,0.00,97.43:-0.70,0.00,87.53:0.66,0.00,9.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:70.7,14.4,26.6:0,3,0:0,0,0:36,67,18:96,76,117:5,30,8:-,chr2 g.118593976_118593977insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 118594101 . G . . NT END=118594230;NT GT ./. 2 118594392 rs13423919 C T 254 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=164;DB;DBA=NA;PAF=C/0.5921,T/0.4079 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:164:76:0:0:79,85:2499,2628:0.00,253.82:0.00,71.05:0.00,182.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,55.1:0,0:0,0:97,98:52,52:30,35:-,chr2 g.118594391C>T (intergenic):-,0.37:-,NOT_FOUND 2 118594417 . G . . NT END=118677918;NT GT ./. 2 118594469 rs2570197 C G 276 nt VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.1346,G/0.8654 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:24:0:0:75:2408:276.45:65.74:210.71:1.00:1.00:1.00:60:58.0:0:0:121:28:16:chr2 g.118594468C>G (intergenic),chr2 g.118594468C>G (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 2 118677973 . C . . NT END=118688612;NT GT ./. 2 118688408 rs1019589 T A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6573,A/0.3427;Gene=CCDC93/NM_019044.4/1;CC=c.1842+205A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,T:8:8:0:0:4,4:134,87:12.94,0.00:12.94,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:33.5,22.5:0,0:0,0:85,58:65,92:17,25:NM_019044.4(CCDC93) c.1842+205A>T,-:0.32,-:NOT_FOUND,- 2 118688727 . C . . NT END=118693070;NT GT ./. 2 118688754 rs971754 T C 124 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.03335,C/0.9667;Gene=CCDC93/NM_019044.4/1;CC=c.1729-28A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:C:35:17:0:0:35:1078:124.46:42.98:81.48:1.00:1.00:1.00:60:37.4:0:0:106:43:20:NM_019044.4(CCDC93) c.1729-28A>G,NM_019044.4(CCDC93) c.1729-28A>G:0.97,0.97:0.963709,0.963709 2 118692929 rs12151445 G A 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6575,A/0.3425;Gene=CCDC93/NM_019044.4/1;CC=c.1728+142C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:9:9:0:0:6,3:196,105:19.97,0.00:19.97,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:50.2,10.7:0,0:0,0:42,30:108,121:20,26:NM_019044.4(CCDC93) c.1728+142C>T,-:0.32,-:NOT_FOUND,- 2 118693156 . C . . NT END=118694277;NT GT ./. 2 118694316 . C . . NT END=118696604;NT GT ./. 2 118694393 rs2303333 C G 42 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6569,G/0.3431;Gene=CCDC93/NM_019044.4/1;CC=c.1606-78G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:9:0:0:11,14:329,426:0.00,41.79:0.00,8.19:0.00,33.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.3,42.9:0,0:0,0:102,106:48,44:22,27:-,NM_019044.4(CCDC93) c.1606-78G>C:-,0.33:-,0.392466 2 118694477 rs55918624 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9453,C/0.05471;Gene=CCDC93/NM_019044.4/1;CC=c.1606-162A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:8:0:0:0:3,5:98,160:8.93,0.00:0.00,0.00:8.93,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:41.7,47.4:0,0:0,0:62,129:81,18:44,4:NM_019044.4(CCDC93) c.1606-162A>G,-:0.06,-:NOT_FOUND,- 2 118696688 . C . . NT END=118698764;NT GT ./. 2 118698699 rs2303330 A G 45 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.7348,G/0.2652;Gene=CCDC93/NM_019044.4/1;CC=c.1522+66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:26:0:0:12,14:383,465:0.00,45.40:0.00,43.88:0.00,1.52:0.00,1.00:0.00,1.00:0.00,0.91:60,60:15.8,42.3:0,0:0,0:50,75:100,75:27,37:-,NM_019044.4(CCDC93) c.1522+66T>C:-,0.23:-,NOT_FOUND 2 118698874 . C . . NT END=118701599;NT GT ./. 2 118701663 . C . . NT END=118703104;NT GT ./. 2 118701764 rs3732320 C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8317,T/0.1683;Gene=CCDC93/NM_019044.4/1;CC=c.1351-102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,T:16:4:0:0:11,5:373,165:0.00,14.57:0.00,1.26:0.00,13.31:0.00,0.88:0.00,0.78:0.00,0.99:60,60:9.6,33.0:0,0:0,0:95,107:56,44:32,39:-,NM_019044.4(CCDC93) c.1351-102G>A:-,0.16:-,NOT_FOUND 2 118703159 . C . . NT END=118704386;NT GT ./. 2 118704459 . C . . NT END=118705680;NT GT ./. 2 118704478 rs7580124 T G 85 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=3468;Gene=CCDC93/NM_019044.4/1;CC=c.1225-20A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:25:15:0:0:25:739:85.43:32.11:53.33:1.00:1.00:1.00:60:39.8:0:0:114:27:21:NM_019044.4(CCDC93) c.1225-20A>C,NM_019044.4(CCDC93) c.1225-20A>C:1,1:0.994387,0.994387 2 118704503 rs2303329 A G 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4058,G/0.5942;PC=0.001;Gene=CCDC93/NM_019044.4/1;CC=c.1225-45T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:6:0:0:7,7:228,221:0.00,21.22:0.00,10.81:0.00,10.41:0.00,0.99:0.00,0.73:0.00,1.00:60,60:38.1,55.3:0,0:0,0:123,115:28,36:25,24:-,NM_019044.4(CCDC93) c.1225-45T>C:-,0.62:-,0.51384 2 118705570 rs10186396 A G 53 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.03095,G/0.969;Gene=CCDC93/NM_019044.4/1;CC=c.1224+111T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:18:18:0:0:18:453:53.46:53.46:0.00:1.00:1.00:0.00:60:30.2:0:0:73:76:58:NM_019044.4(CCDC93) c.1224+111T>C,NM_019044.4(CCDC93) c.1224+111T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118705763 . C . . NT END=118706897;NT GT ./. 2 118706879 rs1035598 A G 105 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.03335,G/0.9667,T/.;Gene=CCDC93/NM_019044.4/1;CC=c.1142+19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:23:0:0:29:918:105.50:66.33:39.17:1.00:1.00:1.00:60:34.7:0:0:31:109:21:NM_019044.4(CCDC93) c.1142+19T>C,NM_019044.4(CCDC93) c.1142+19T>C:0.97,0.97:0.963709,0.963709 2 118706972 . C . . NT END=118707270;NT GT ./. 2 118707281 . TA T 20 idl,rn VT=DEL;SST=Single;DP=58;PC=0.042;Gene=CCDC93/NM_019044.4/1;CC=c.1069-311delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:TA,I,T:58:55:5:8:45,5,8:1386,158,256:0.00,11.11,19.65:0.00,10.07,11.66:0.00,1.04,7.99:0.00,0.00,0.95:0.00,0.00,1.00:0.00,0.00,0.89:60,60,60:31.3,31.6,26.2:1,0,0:0,0,0:52,54,20:98,97,129:41,15,11:-,NM_019044.4(CCDC93) c.1069-311delT:-,NOT_FOUND:-,NOT_FOUND 2 118707314 rs918855 G T 240 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.03095,T/0.969;Gene=CCDC93/NM_019044.4/1;CC=c.1069-343C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:G,T:75:65:0:0:2,73:20,2083:0.00,239.52:0.00,175.97:0.00,63.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.5,37.6:0,0:0,0:91,40:58,106:40,26:NM_019044.4(CCDC93) c.1069-343C>A,NM_019044.4(CCDC93) c.1069-343C>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118708284 rs7578387 C T 183 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=C/0.6575,T/0.3425;Gene=CCDC93/NM_019044.4/1;CC=c.1069-1313G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:125:73:0:0:64,1,60:1899,10,1912:0.00,-0.14,182.56:0.00,-0.01,91.13:0.00,-0.13,91.43:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.5,113.0,39.6:0,0,0:0,0,0:74,47,74:72,101,71:42,0,33:-,NM_019044.4(CCDC93) c.1069-1313G>A:-,0.32:-,NOT_FOUND 2 118708659 rs10681359 T TGA 319 PASS VT=INS;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.03135,TGA/0.9687;NP=4;Gene=CCDC93/NM_019044.4/1;CC=c.1068+1289_1068+1290insTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T,TGA:89:42:89:0:1,88:32,2822:0.00,318.73:0.00,127.43:0.00,191.31:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,6.8:0,1:0,0:146,77:1,68:0,35:NM_019044.4(CCDC93) c.1068+1289_1068+1290insTC,NM_019044.4(CCDC93) c.1068+1289_1068+1290insTC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 118708850 rs3771942 C G 374 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.4573,A/.,G/0.5427;Gene=CCDC93/NM_019044.4/1;CC=c.1068+1099G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:102:64:0:0:102:3257:374.14:163.91:210.23:1.00:1.00:1.00:60:41.2:0:0:66:83:37:NM_019044.4(CCDC93) c.1068+1099G>C,NM_019044.4(CCDC93) c.1068+1099G>C:0.52,0.52:NOT_FOUND,NOT_FOUND 2 118709122 rs3771943 T G 139 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.6256,G/0.3744;Gene=CCDC93/NM_019044.4/1;CC=c.1068+827A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:85:60:0:0:45,40:1427,1238:138.60,0.00:79.48,0.00:59.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,5.7:0,0:0,0:58,58:91,90:38,28:NM_019044.4(CCDC93) c.1068+827A>C,-:0.36,-:NOT_FOUND,- 2 118709278 . C . . NT END=118709948;NT GT ./. 2 118710012 . C . . NT END=118715940;NT GT ./. 2 118716058 . C . . NT END=118731483;NT GT ./. 2 118716166 rs1991102 C T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6575,T/0.3425;Gene=CCDC93/NM_019044.4/1;CC=c.889-109G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:8,7:241,226:0.00,21.44:0.00,0.00:0.00,21.44:0.00,0.99:0.00,0.00:0.00,0.99:60,60:18.2,37.3:0,0:0,0:121,106:27,45:26,26:-,NM_019044.4(CCDC93) c.889-109G>A:-,0.32:-,NOT_FOUND 2 118731571 . C . . NT END=118732425;NT GT ./. 2 118732171 rs77672438 G A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9425,A/0.05751;Gene=CCDC93/NM_019044.4/1;CC=c.801+255C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G:9:9:0:0:5,4:143,110:13.98,0.00:13.98,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:100.6,56.2:0,0:0,0:51,36:100,114:26,9:NM_019044.4(CCDC93) c.801+255C>T,-:0.07,-:NOT_FOUND,- 2 118732477 . C . . NT END=118732763;NT GT ./. 2 118732857 . C . . NT END=118735569;NT GT ./. 2 118732975 rs6722547 T C 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.03295,C/0.9671;Gene=CCDC93/NM_019044.4/1;CC=c.658-119A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:574:66.41:0.00:66.41:1.00:0.00:1.00:60:43.4:0:0:114:37:19:NM_019044.4(CCDC93) c.658-119A>G,NM_019044.4(CCDC93) c.658-119A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118733051 rs74549216 G A 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9441,A/0.05591;Gene=CCDC93/NM_019044.4/1;CC=c.658-195C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:6:0:0:0:4,2:123,59:12.55,0.00:0.00,0.00:12.55,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:55.0,22.5:0,0:0,0:112,45:39,105:22,44:NM_019044.4(CCDC93) c.658-195C>T,-:0.07,-:NOT_FOUND,- 2 118735395 rs889899 G A 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.03115,A/0.9688;Gene=CCDC93/NM_019044.4/1;CC=c.657+175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:277:31.97:31.97:0.00:1.00:1.00:0.00:60:31.7:0:0:60:91:16:NM_019044.4(CCDC93) c.657+175C>T,NM_019044.4(CCDC93) c.657+175C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118735607 . C . . NT END=118742964;NT GT ./. 2 118743072 . A . . NT END=118743544;NT GT ./. 2 118743116 rs10535626 CTA C 50 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=109;Gene=CCDC93/NM_019044.4/1;CC=c.620+427_620+428delTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:7:0:15:14:433:49.97:14.71:35.26:1.00:1.00:1.00:70:22.1:0:0:103:47:7:NM_019044.4(CCDC93) c.620+427_620+428delTA,NM_019044.4(CCDC93) c.620+427_620+428delTA:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118743646 . C . . NT END=118753021;NT GT ./. 2 118753079 . C . . NT END=118753839;NT GT ./. 2 118753148 rs76121247 A ATC 64 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.03115,ACT/.,ATC/0.9688;DB;DBA=NA;PAF=NA;NP=3404;Gene=CCDC93/NM_019044.4/1;CC=c.463-71_463-70insGA;VC=Intron;DM=CCDC93/KOG2701;DM=CCDC93/KOG2701;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:ATC:18:8:18:0:18:554:63.97:17.38:46.59:1.00:1.00:1.00:60:21.3:0:0:101:49:23:NM_019044.4(CCDC93) c.463-71_463-70insGA,NM_019044.4(CCDC93) c.463-71_463-70insGA:0.97,0.97:0.964537,0.964537 2 118753939 . C . . NT END=118758396;NT GT ./. 2 118758210 rs1559504 A G 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.03095,G/0.969;Gene=CCDC93/NM_019044.4/1;CC=c.363+187T>C;VC=Intron;DM=CCDC93/KOG2701;DM=CCDC93/KOG2701 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:180:20.83:20.83:0.00:1.00:1.00:0.00:60:37.5:0:0:86:64:23:NM_019044.4(CCDC93) c.363+187T>C,NM_019044.4(CCDC93) c.363+187T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118758509 . C . . NT END=118764297;NT GT ./. 2 118764393 . C . . NT END=118766120;NT GT ./. 2 118764527 rs4849654 T A 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.03315,A/0.9669;Gene=CCDC93/NM_019044.4/1;CC=c.157-135A>T;VC=Intron;DM=CCDC93/KOG2701;DM=CCDC93/KOG2701 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:34.8:0:0:118:31:22:NM_019044.4(CCDC93) c.157-135A>T,NM_019044.4(CCDC93) c.157-135A>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118766024 rs10864966 A G 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.03095,G/0.969;Gene=CCDC93/NM_019044.4/1;CC=c.156+97T>C;VC=Intron;DM=CCDC93/KOG2701;DM=CCDC93/KOG2701 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:457:52.33:52.33:0.00:1.00:1.00:0.00:60:52.1:0:0:59:89:25:NM_019044.4(CCDC93) c.156+97T>C,NM_019044.4(CCDC93) c.156+97T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118766235 . C . . NT END=118771529;NT GT ./. 2 118771566 rs11545372 C A 190 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=160;DB;DBA=NA;PAF=C/0.6797,A/0.3203;PC=0.998;Gene=CCDC93/NM_019044.4/1;CC=c.6G>T;ProtCh=p.G2=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:160:135:0:0:70,89,1:2042,2822,10:190.12,0.00,-0.17:137.33,0.00,-0.11:52.79,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:54.6,22.0,190.0:0,0,0:0,0,0:57,62,54:92,89,97:33,30,0:NM_019044.4(CCDC93) c.6G>T (p.(=)),-:0.3,-:0.358617,- 2 118771663 rs12477588 A G 909 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=246;DB;DBA=NA;PAF=A/0.03095,G/0.969;PC=1.000;Gene=CCDC93/NM_019044.4/1;CC=c.-92T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:246:174:0:0:2,244:28,7941:0.52,908.94:0.00,474.18:0.52,434.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:139.5,44.3:0,0:0,0:90,63:58,77:18,35:NM_019044.4(CCDC93) c.-92T>C,NM_019044.4(CCDC93) c.-92T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 118771682 rs58181584 TGCC T 283 rn VT=DEL;SST=Single;DP=260;DB;DBA=NA;PAF=NA;NP=5;PC=0.003;Gene=CCDC93/NM_019044.4/1;CC=c.-114_-112delGGC;VC=5UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGCC,T:257:184:0:102:158,99:5171,3200:0.00,282.77:0.00,143.27:0.00,139.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.3,39.0:0,3:0,0:74,63:65,77:39,29:-,NM_019044.4(CCDC93) c.-138GGC[8]:-,NOT_FOUND:-,NOT_FOUND 2 118771740 . G . . NT END=118854132;NT GT ./. 2 118771872 rs6542423 T C 223 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.03315,C/0.9669 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:C:59:0:0:0:59:1950:223.01:0.00:223.01:1.00:0.00:1.00:60:43.1:0:0:97:52:25:NM_019044.4(CCDC93) c.-168-u133A>G,NM_019044.4(CCDC93) c.-168-u133A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 118854094 . AT A 31 idl,rn VT=DEL;SST=Single;DP=71;NP=200;Gene=INSIG2/NM_016133.2/1;CC=c.-26delT;VC=5UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,I,A:70:63:6:13:51,1,6,12:1644,8,197,412:0.00,-0.23,14.17,30.97:0.00,-0.14,10.79,17.04:0.00,-0.09,3.38,13.92:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:14.7,132.0,15.2,9.9:0,0,0,1:0,0,0,0:48,127,53,77:94,17,97,73:27,0,28,29:-,NM_016133.2(INSIG2) c.-38T[12]:-,NOT_FOUND:-,0.158905 2 118854377 . G . . NT END=118860772;NT GT ./. 2 118860656 . G GT 7 rn VT=INS;SST=Single;DP=24;NP=7;PC=0.007;Gene=INSIG2/NM_016133.2/1;CC=c.245-104_245-103insT;VC=Intron;DM=INSIG2/INSIG;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:G,T,GT,D:24:23:3:2:18,1,3,2:531,9,96,64:0.00,-0.07,7.28,4.52:0.00,-0.02,7.46,4.63:0.00,-0.06,-0.17,-0.11:0.00,0.00,0.47,0.00:0.00,0.00,0.89,0.00:0.00,0.00,0.48,0.00:60,60,70,60:23.9,41.0,34.7,83.0:0,0,0,0:0,0,0,0:40,119,30,38:110,14,110,113:34,0,9,8:-,NM_016133.2(INSIG2) c.245-117_245-116insT:-,NOT_FOUND:-,NOT_FOUND 2 118860898 . G . . NT END=118864312;NT GT ./. 2 118864480 . G . . NT END=118864665;NT GT ./. 2 118864766 . G . . NT END=118865856;NT GT ./. 2 118865899 . A . . NT END=119600513;NT GT ./. 2 118945899 rs60101119 G GCACACACA 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=31;NP=34;NP=5;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GCACACACA:2:3:4:0:2:113:7.15:3.58:3.58:0.51:0.89:0.89:70:101.5:2:0:24:110:10:XR_109883.1(LOC100506797) n.-1938_-1937insTGTGTGTG,XR_109883.1(LOC100506797) n.-1938_-1937insTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 118996423 rs200636302 G T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1849,T/0.8151;DB;DBA=NA;PAF=NA;NP=8;PC=0.110 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:G,T:6:1:0:0:3,3:103,96:0.00,9.22:0.00,-0.30:0.00,9.53:0.00,0.73:0.00,0.67:0.00,0.96:60,60:16.7,62.3:0,0:0,0:104,77:28,72:4,47:-,chr2 g.118996422G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119017912 rs3082482 G GGTGT 10 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4545,GGT/.,GGTGT/0.5455,GGTGTGT/.;DB;DBA=NA;PAF=G/0.4545,GGT/.,GGTGT/0.5455;NP=26;NP=4;NP=55;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GGTGT:4:5:5:0:1,3:33,158:0.00,9.53:0.00,7.99:0.00,1.54:0.00,0.73:0.00,0.96:0.00,0.89:29,60:33.0,57.7:0,2:0,0:37,72:36,79:0,24:-,chr2 g.119017912_119017913insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119263483 rs376260708 C CGTGTGT 10 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.015;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CGTGTGT:3:3:4:0:3:122:10.26:1.78:8.48:0.85:0.99:0.85:70:162.0:1:0:71:71:16:chr2 g.119263483_119263484insGTGTGT (intergenic),chr2 g.119263483_119263484insGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 119263490 rs1370506 T G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6777,G/0.3223;NP=29;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:141:16.01:6.02:9.99:1.00:1.00:1.00:70:121.5:0:0:84:58:16:chr2 g.119263489T>G (intergenic),chr2 g.119263489T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 119263493 rs1370507 C T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5347,T/0.4653;NP=30;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:134:15.31:5.67:9.64:1.00:1.00:1.00:70:105.8:0:0:56:94:17:chr2 g.119263492C>T (intergenic),chr2 g.119263492C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 119340823 . G GAC 7 rn VT=INS;SST=Single;DP=5;NP=1;NP=36;PC=0.001;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:G,GAC:4:4:4:0:1,3:36,81:0.00,6.75:0.00,3.75:0.00,3.01:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,0.0:0,1:0,0:77,27:74,123:0,21:-,chr2 g.119340823_119340824insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119600831 . C . . NT END=119603881;NT GT ./. 2 119604635 . c . . NT END=119699876;NT GT ./. 2 119699585 rs1318645 C G 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4149,A/.,G/0.5851 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:60:35.0:0:0:24:127:13:NM_006770.3(MARCO) c.-132-u160C>G,NM_006770.3(MARCO) c.-132-u160C>G:0.62,0.62:NOT_FOUND,NOT_FOUND 2 119699974 . G . . NT END=119726735;NT GT ./. 2 119700096 rs2077344 T C 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.4145,C/0.5855;Gene=MARCO/NM_006770.3/1;CC=c.97+123T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:0:0:0:24:685:79.79:0.00:79.79:1.00:0.00:1.00:60:32.3:0:0:76:74:30:NM_006770.3(MARCO) c.97+123T>C,NM_006770.3(MARCO) c.97+123T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 119726838 . G . . NT END=119727689;NT GT ./. 2 119727915 . G . . NT END=119729074;NT GT ./. 2 119729111 . G . . NT END=119731908;NT GT ./. 2 119732017 . G . . NT END=119732096;NT GT ./. 2 119732042 rs11693199 T C 311 nt VT=SNV;PN=T;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.8317,C/0.1683;Gene=MARCO/NM_006770.3/1;CC=c.568+26T>C;VC=Intron;DM=MARCO/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:86:42:0:0:85,1:2728,9:311.48,0.00:114.66,0.00:196.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,94.0:0,0:0,0:72,13:79,135:41,0:NM_006770.3(MARCO) c.568+26T>C,NM_006770.3(MARCO) c.568+26T>C:0.24,0.24:0.305936,0.305936 2 119732142 . G . . NT END=119735046;NT GT ./. 2 119735092 . G . . NT END=119735403;NT GT ./. 2 119735512 . G . . NT END=119738984;NT GT ./. 2 119739084 . G . . NT END=119739196;NT GT ./. 2 119739127 . C CT 24 idl,rn VT=INS;SST=Single;DP=89;NP=1;NP=1;NP=1;NP=2;NP=3;Gene=MARCO/NM_006770.3/1;CC=c.866-56dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,CT,D:85:49:13:8:68,10,7:2109,416,247:0.00,24.07,14.61:0.00,9.81,2.59:0.00,14.26,12.02:0.00,0.98,0.00:0.00,0.98,0.00:0.00,1.00,0.00:60,60,60:22.4,29.7,14.6:0,3,1:0,0,0:99,105,88:52,46,62:40,19,36:-,NM_006770.3(MARCO) c.865+44_865+45insT:-,NOT_FOUND:-,NOT_FOUND 2 119739233 . G . . NT END=119739731;NT GT ./. 2 119739269 rs56216274 C T 135 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.7602,T/0.2398;Gene=MARCO/NM_006770.3/1;CC=c.901+37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T:38:14:0:0:38:1172:135.18:29.20:105.98:1.00:1.00:1.00:60:42.3:0:0:91:51:25:NM_006770.3(MARCO) c.901+37C>T,NM_006770.3(MARCO) c.901+37C>T:0.28,0.28:0.344082,0.344082 2 119739831 . G . . NT END=119739923;NT GT ./. 2 119739987 . G . . NT END=119748164;NT GT ./. 2 119748210 . G . . NT END=119749352;NT GT ./. 2 119749452 . G . . NT END=119750007;NT GT ./. 2 119749477 rs2304708 T G 181 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.1316,G/0.8684;Gene=MARCO/NM_006770.3/1;CC=c.1207+26T>G;VC=Intron;DM=MARCO/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C,G:50:17:0:0:1,49:8,1580:0.11,180.89:0.00,38.92:0.11,141.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,39.3:0,0:0,0:60,109:91,41:0,27:NM_006770.3(MARCO) c.1207+26T>G,NM_006770.3(MARCO) c.1207+26T>G:0.87,0.87:0.837525,0.837525 2 119749611 rs4848530 C T 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7109,T/0.2891;Gene=MARCO/NM_006770.3/1;CC=c.1207+160C>T;VC=Intron;DM=MARCO/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:0:0:0:8:216:25.32:0.00:25.32:1.00:0.00:1.00:60:68.4:0:0:117:34:17:NM_006770.3(MARCO) c.1207+160C>T,NM_006770.3(MARCO) c.1207+160C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 2 119749858 rs3765035 A G 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4131,G/0.5869;Gene=MARCO/NM_006770.3/1;CC=c.1208-150A>G;VC=Intron;DM=MARCO/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:16:0:0:17:482:56.27:52.39:3.88:1.00:1.00:1.00:60:48.4:0:0:61:90:26:NM_006770.3(MARCO) c.1208-150A>G,NM_006770.3(MARCO) c.1208-150A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 2 119750053 . G . . NT END=119750699;NT GT ./. 2 119750877 . G . . NT END=119751962;NT GT ./. 2 119751769 rs568451117 AAAC A 56 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=638;Gene=MARCO/NM_006770.3/1;CC=c.1430-167_1430-165delCAA;VC=Intron;DM=MARCO/SRCR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:AAAC,A:17:17:0:16:1,16:34,499:0.00,55.88:0.00,55.88:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:36.0,0.8:0,0:0,0:139,26:11,124:0,15:NM_006770.3(MARCO) c.1430-193_1430-191delAAC,NM_006770.3(MARCO) c.1430-193_1430-191delAAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 119752097 . C . . NT END=119914377;NT GT ./. 2 119772469 rs59398248 A AACACAC 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=11;PC=0.458;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,AACACAC:4:4:3:0:2,2:60,100:0.00,6.41:0.00,4.90:0.00,1.52:0.00,0.46:0.00,0.87:0.00,0.87:60,60:0.0,4.5:0,1:0,0:96,53:38,98:8,23:-,chr2 g.119772469_119772470insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119826863 rs12617078 A G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2085,G/0.7915 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:150:17.38:17.38:0.00:1.00:1.00:0.00:60:62.0:0:0:57:76:30:chr2 g.119826862A>G (intergenic),chr2 g.119826862A>G (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 2 119826915 rs12711920 T C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2087,C/0.7913;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:144:16.31:12.23:4.08:1.00:1.00:1.00:60:70.0:0:0:79:64:15:chr2 g.119826914T>C (intergenic),chr2 g.119826914T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 119826920 rs60398648 TTCTCTCTCTCTCTCTCTC T 10 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=327;PC=0.036;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TTCTCTCTCTCTCTCTCTC,T:4:4:0:3:1,3:34,99:0.00,10.35:0.00,8.78:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:33,60:67.0,71.0:0,0:0,0:114,84:19,59:0,1:-,chr2 g.119826921_119826938delTCTCTCTCTCTCTCTCTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119826986 . CCTCT C 9 sb;idl,rn VT=DEL;SST=Single;DP=7;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:CCTCT,C:5:5:0:5:2,3:46,155:0.00,8.55:0.00,-0.48:0.00,9.03:0.00,0.69:0.00,0.93:0.00,0.89:60,60:88.5,284.3:0,2:0,0:132,58:11,81:0,13:-,chr2 g.119826987_119826990delCTCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119827001 . C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:3:0:0:1,4:35,127:0.00,13.52:0.00,5.62:0.00,7.90:0.00,0.96:0.00,0.99:0.00,1.00:60,60:36.0,204.2:1,0:0,0:95,67:30,69:0,5:-,chr2 g.119827000C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119827003 rs151121351 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:3:0:0:1,4:35,141:0.00,14.92:0.00,5.57:0.00,9.35:0.00,0.96:0.00,0.99:0.00,1.00:60,60:36.0,204.2:1,0:0,0:97,69:28,67:0,5:-,chr2 g.119827002C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119827005 rs147064378 C A,G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6446,A/.,G/0.3554 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:A,G:5:3:0:0:1,4:33,141:3.08,15.62:1.54,5.97:1.54,9.65:0.00,0.96:0.00,0.99:0.00,1.00:60,60:36.0,204.2:1,0:0,0:99,71:26,65:0,5:chr2 g.119827004C>A (intergenic),chr2 g.119827004C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 119827007 rs75186076 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6256,G/0.3744;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:3:0:0:1,4:35,141:0.00,14.92:0.00,5.57:0.00,9.35:0.00,0.96:0.00,0.99:0.00,1.00:60,60:36.0,204.2:1,0:0,0:101,73:24,63:0,5:-,chr2 g.119827006C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119827009 rs5833771 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:3:0:0:1,4:35,141:0.00,14.92:0.00,5.57:0.00,9.35:0.00,0.96:0.00,0.99:0.00,1.00:60,60:36.0,204.2:1,0:0,0:103,75:22,61:0,5:-,chr2 g.119827008C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119828061 rs545708380 CTG C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTG/0.316,C/0.339;DB;DBA=NA;PAF=CTG/0.316,C/0.339;NP=20;PC=0.004;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:3:0:5:3:123:9.95:5.33:4.63:0.85:0.99:0.95:60:65.0:1:0:45:104:14:chr2 g.119828062_119828063delTG (intergenic),chr2 g.119828062_119828063delTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 119896303 . GGTGTGTGTGTGTGT G 8 idl,nt VT=DEL;SST=Single;DP=7;PC=0.002;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:GGTGTGTGTGTGTGT,G:5:7:0:5:2,3:70,139:0.00,7.64:0.00,6.66:0.00,0.98:0.00,0.69:0.00,0.69:0.00,0.73:60,60:0.0,56.0:0,2:0,0:130,40:20,111:0,12:-,chr2 g.119896304_119896317delGTGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119914558 . C . . NT END=119915161;NT GT ./. 2 119914989 rs7593041 C T 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.4161,T/0.5839;Gene=C1QL2/NM_182528.3/1;CC=c.684+173G>A;VC=Intron;DM=C1QL2/C1q GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:15:0:0:18:518:60.28:50.57:9.71:1.00:1.00:1.00:60:53.3:0:0:68:82:31:NM_182528.3(C1QL2) c.684+173G>A,NM_182528.3(C1QL2) c.684+173G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 2 119915132 rs11308896 CG C 209 nt VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=CG/0.05491,C/0.9451;NP=3288;PC=0.001;Gene=C1QL2/NM_182528.3/1;CC=c.684+29delC;VC=Intron;DM=C1QL2/C1q;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:159:CG,C:60:54:0:59:1,59:11,1824:0.00,208.74:0.00,153.77:0.00,54.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,20.6:0,0:0,0:112,43:31,106:0,24:NM_182528.3(C1QL2) c.684+29delC,NM_182528.3(C1QL2) c.684+29delC:0.96,0.96:0.961125,0.961125 2 119915249 rs7556873 T C 529 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=138;DB;DBA=NA;PAF=T/0.4135,C/0.5865;PC=0.104;Gene=C1QL2/NM_182528.3/1;CC=c.597A>G;ProtCh=p.V199=;VC=Silent;DM=C1QL2/C1q GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:138:114:0:0:138:4631:528.75:349.94:178.81:1.00:1.00:1.00:60:41.5:0:0:57:93:34:NM_182528.3(C1QL2) c.597A>G (p.(=)),NM_182528.3(C1QL2) c.597A>G (p.(=)):0.6,0.6:0.706674,0.706674 2 119915846 . G . . NT END=119988588;NT GT ./. 2 119915988 rs6705476 A G 36 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4129,G/0.5871;Gene=C1QL2/NM_182528.3/1;CC=c.-143T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:309:35.62:0.00:35.62:1.00:0.00:1.00:60:71.1:0:0:79:72:28:NM_182528.3(C1QL2) c.-143T>C,NM_182528.3(C1QL2) c.-143T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 119925120 . GACAC G 15 rn VT=DEL;SST=Single;DP=8;NP=2;PC=0.003;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:GACAC,G:7:7:0:6:2,5:50,180:0.00,15.11:0.00,7.36:0.00,7.76:0.00,0.97:0.00,1.00:0.00,1.00:60,60:14.0,24.4:0,1:0,0:123,32:27,108:14,7:-,chr2 g.119925121_119925124delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 119988565 rs838100 G A 259 nt VT=SNV;PN=A;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.7212,A/0.2788;PC=0.001;Gene=STEAP3/NM_001008410.1/0;CC=c.-9+7101G>A;VC=Intron;Gene=STEAP3/NM_018234.2/0;CC=c.-77+7101G>A;VC=Intron;Gene=STEAP3/NM_138637/0;CC=c.-9+7101G>A;VC=Intron;Gene=STEAP3/NM_182915.2/1;CC=c.-24G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:72:57:0:0:71,1:2260,11:259.36,0.17:141.12,0.00:118.24,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,11.0:0,0:0,0:59,42:78,109:31,0:NM_182915.2(STEAP3) c.-24G>A,NM_182915.2(STEAP3) c.-24G>A:0.32,0.32:0.339261,0.339261 2 119988611 . G . . NT END=120003064;NT GT ./. 2 120002770 rs838084 T C 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.003195,C/0.9968;NP=212;Gene=STEAP3/NM_001008410.1/0;CC=c.-8-295T>C;VC=Intron;Gene=STEAP3/NM_018234.2/0;CC=c.-8-295T>C;VC=Intron;Gene=STEAP3/NM_138637/0;CC=c.-8-295T>C;VC=Intron;Gene=STEAP3/NM_182915.2/1;CC=c.23-295T>C;VC=Intron;Gene=STEAP3-AS1/NR_046721.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:400:46.18:46.18:0.00:1.00:1.00:0.00:60:45.4:0:0:51:99:29:NM_182915.2(STEAP3) c.23-295T>C,NM_182915.2(STEAP3) c.23-295T>C:1,1:NOT_FOUND,NOT_FOUND 2 120003565 . G . . NT END=120005254;NT GT ./. 2 120003642 rs838083 C T 251 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.119,T/0.881;Gene=STEAP3/NM_001008410.1/0;CC=c.492+78C>T;VC=Intron;Gene=STEAP3/NM_018234.2/0;CC=c.492+78C>T;VC=Intron;Gene=STEAP3/NM_138637/0;CC=c.492+78C>T;VC=Intron;Gene=STEAP3/NM_182915.2/1;CC=c.522+78C>T;VC=Intron;Gene=STEAP3-AS1/NR_046721.1/0;VC=NonCoding;DM=STEAP3/Branch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:69:11:0:0:69:2187:251.48:25.59:225.90:1.00:1.00:1.00:60:40.9:0:0:101:50:30:NM_182915.2(STEAP3) c.522+78C>T,NM_182915.2(STEAP3) c.522+78C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 120005783 . G . . NT END=120012259;NT GT ./. 2 120005840 rs67985074 TC T 206 rn VT=DEL;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=770;PC=0.002;Gene=STEAP3/NM_001008410.1/0;CC=c.1020+67delC;VC=Intron;Gene=STEAP3/NM_018234.2/0;CC=c.1020+67delC;VC=Intron;Gene=STEAP3/NM_138637/0;CC=c.1020+67delC;VC=Intron;Gene=STEAP3/NM_182915.2/1;CC=c.1050+67delC;VC=Intron;Gene=STEAP3-AS1/NR_046721.1/0;VC=NonCoding;DM=STEAP3/Branch;DM=STEAP3/Ferric_reduct;DM=STEAP3/Ferric_reduct;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,TC,T:80:14:0:67:1,1,14,64:9,10,397,1910:0.02,0.04,0.00,205.57:-0.01,-0.01,0.00,24.11:0.03,0.06,0.00,181.46:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:126.0,100.0,11.4,12.2:1,1,0,0:0,0,0,0:127,61,143,88:24,90,7,61:0,0,2,26:-,NM_182915.2(STEAP3) c.1050+59delC:-,NOT_FOUND:-,NOT_FOUND 2 120012425 . G . . NT END=120015032;NT GT ./. 2 120014985 rs838072 A G 403 nt VT=SNV;PN=A;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.02915,G/0.9708;Gene=STEAP3/NM_001008410.1/0;CC=c.1185+2561A>G;VC=Intron;Gene=STEAP3/NM_018234.2/0;CC=c.1185+2561A>G;VC=Intron;Gene=STEAP3/NM_138637/0;CC=c.1186-48A>G;VC=Intron;Gene=STEAP3/NM_182915.2/1;CC=c.1215+2561A>G;VC=Intron;DM=STEAP3/Ferric_reduct;DM=STEAP3/Ferric_reduct GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:108:88:0:0:1,107:10,3524:0.09,402.85:0.09,260.38:0.00,142.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:76.0,39.4:0,0:0,0:38,53:113,87:0,24:NM_182915.2(STEAP3) c.1215+2561A>G,NM_182915.2(STEAP3) c.1215+2561A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 120015324 . A . . NT END=120020632;NT GT ./. 2 120020915 . G . . NT END=120060096;NT GT ./. 2 120058652 rs373214957 A AACAC 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=30;NP=4;PC=0.970;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,C,AACAC:6:3:3:0:2,1,3:62,34,101:0.00,2.94,10.03:0.00,-0.08,5.06:0.00,3.02,4.96:0.00,0.00,0.73:0.00,0.00,0.89:0.00,0.00,0.51:60,60,60:17.0,34.0,4.3:0,0,0:0,0,0:87,64,54:63,85,97:52,0,5:-,chr2 g.120058652_120058653insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 120059895 rs16744 G GGAAA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3367,GGAAA/0.6633;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3367,GGAAA/0.6633;NP=39;NP=5;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GGAAA:4:4:4:0:4:128:14.71:14.71:0.00:1.00:1.00:0.00:60:47.5:0:0:26:124:14:chr2 g.120059895_120059896insGAAA (intergenic),chr2 g.120059895_120059896insGAAA (intergenic):0.64,0.64:NOT_FOUND,NOT_FOUND 2 120059921 rs8600 C A 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.868,A/0.132 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,C:5:5:0:0:4,1:122,34:13.02,0.00:13.02,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:55.0,35.0:0,0:0,0:56,39:94,111:14,0:chr2 g.120059920C>A (intergenic),-:0.15,-:NOT_FOUND,- 2 120059988 rs1890 T C 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3367,C/0.6633;PC=0.032 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:267:30.52:26.54:3.98:1.00:1.00:1.00:60:61.5:0:0:28:121:22:chr2 g.120059987T>C (intergenic),chr2 g.120059987T>C (intergenic):0.66,0.66:0.729961,0.729961 2 120060082 rs1052500 T C 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.3367,C/0.6633;PC=1.000;Gene=C2orf76/NM_001017927.2/1;CC=c.347A>G;ProtCh=p.K116R;VC=Missense;DM=C2orf76/DUF2340 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:13:0:0:16:497:57.30:32.69:24.61:1.00:1.00:1.00:60:59.7:0:0:63:83:36:NM_001017927.2(C2orf76) c.347A>G (p.Lys116Arg),NM_001017927.2(C2orf76) c.347A>G (p.Lys116Arg):0.66,0.66:0.724126,0.724126 2 120060125 . C . . NT END=120068719;NT GT ./. 2 120068674 rs56121712 T C 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.6124,C/0.3876;Gene=C2orf76/NM_001017927.2/1;CC=c.304+524A>G;VC=Intron;DM=C2orf76/DUF2340 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:46:0:0:21,26:705,760:66.54,0.00:59.77,0.00:6.77,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:34.8,12.5:0,0:0,0:41,55:110,95:18,26:NM_001017927.2(C2orf76) c.304+524A>G,-:0.4,-:NOT_FOUND,- 2 120069061 . C . . NT END=120069197;NT GT ./. 2 120069280 . C . . NT END=120075041;NT GT ./. 2 120069281 . TA T 22 idl,rn VT=DEL;SST=Single;DP=76;NP=100;PC=0.026;Gene=C2orf76/NM_001017927.2/1;CC=c.223-3delT;VC=Intron;DM=C2orf76/DUF2340;DM=C2orf76/DUF2340;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:TA,I,T:73:35:6:10:60,4,9:1875,181,324:0.00,7.32,21.79:0.00,-0.91,10.26:0.00,8.23,11.53:0.00,0.00,0.97:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:12.6,10.5,1.4:0,2,1:0,0,0:94,91,92:54,60,59:25,32,25:-,NM_001017927.2(C2orf76) c.223-3delT:-,NOT_FOUND:-,0.16793 2 120075080 . C . . NT END=120078729;NT GT ./. 2 120078689 rs6719102 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.894,C/0.106;PC=0.769;Gene=C2orf76/NM_001017927.2/1;CC=c.184+41A>G;VC=Intron;DM=C2orf76/DUF2340;DM=C2orf76/DUF2340 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:C,T:11:9:0:0:5,6:146,197:13.67,0.00:9.09,0.00:4.58,0.00:0.93,0.00:0.99,0.00:0.91,0.00:60,60:52.0,21.0:0,0:0,0:42,39:108,102:27,32:NM_001017927.2(C2orf76) c.184+41A>G,-:0.13,-:0.164165,- 2 120078778 rs1132267 T C 75 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3444,C/0.6556;PC=0.028;Gene=C2orf76/NM_001017927.2/1;CC=c.136A>G;ProtCh=p.I46V;VC=Missense;DM=C2orf76/DUF2340;DM=C2orf76/DUF2340 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:14:0:0:20:653:74.80:34.94:39.86:1.00:1.00:1.00:60:38.9:0:0:70:72:24:NM_001017927.2(C2orf76) c.136A>G (p.Ile46Val),NM_001017927.2(C2orf76) c.136A>G (p.Ile46Val):0.65,0.65:0.703242,0.703242 2 120078781 . C . . NT END=120097402;NT GT ./. 2 120097548 . C . . NT END=120124627;NT GT ./. 2 120097851 rs6730220 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5054,G/0.4946;Gene=C2orf76/NM_001017927.2/1;CC=c.-129T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:142:16.11:0.00:16.11:1.00:0.00:1.00:60:35.5:0:0:105:45:20:NM_001017927.2(C2orf76) c.-129T>C,NM_001017927.2(C2orf76) c.-129T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 120098331 . TACACACAC T 12 nt VT=DEL;SST=Single;DP=9;NP=15;PC=0.007;Gene=C2orf76/NM_001017927.2/1;CC=c.-215-402_-215-395delGTGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:TACACACAC,T:9:7:0:4:5,4:144,130:0.00,12.24:0.00,7.81:0.00,4.43:0.00,0.85:0.00,0.97:0.00,0.94:60,60:0.0,24.2:0,0:0,0:125,66:26,84:16,22:-,NM_001017927.2(C2orf76) c.-215-402_-215-395delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 120124791 . G . . NT END=120124828;NT GT ./. 2 120125029 rs2084202 A G 577 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=A/0.1086,G/0.8914;Gene=DBI/NM_001079862.2/0;CC=c.9+393A>G;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.60A>G;ProtCh=p.R20=;VC=Silent;Gene=DBI/NM_001178042.2/0;CC=c.-21-111A>G;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.39+363A>G;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.-26-106A>G;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.-26-106A>G;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.-21-111A>G;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.-26-106A>G;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.-64+239A>G;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.117A>G;ProtCh=p.R39=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:161:101:0:0:1,160:6,5014:0.02,577.05:0.00,281.46:0.02,295.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:120.0,64.0:0,0:0,0:75,78:76,70:0,36:NM_001178017.1(DBI) c.117A>G (p.(=)),NM_001178017.1(DBI) c.117A>G (p.(=)):0.89,0.89:NOT_FOUND,NOT_FOUND 2 120125053 rs3731608 C G 220 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=C/0.8397,G/0.1603,T/.;Gene=DBI/NM_001079862.2/0;CC=c.9+417C>G;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.84C>G;ProtCh=p.Y28*;VC=Nonsense;Gene=DBI/NM_001178042.2/0;CC=c.-21-87C>G;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.39+387C>G;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.-26-82C>G;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.-26-82C>G;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.-21-87C>G;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.-26-82C>G;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.-64+263C>G;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.141C>G;ProtCh=p.Y47*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:160:99:0:0:86,74:2734,2323:0.00,219.51:0.00,98.02:0.00,121.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.9,95.7:0,0:0,0:80,73:61,74:37,33:-,NM_001178017.1(DBI) c.141C>G (p.Tyr47*):-,0.18:-,NOT_FOUND 2 120125058 rs3731607 C T 188 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=C/0.8381,G/.,T/0.1619;Gene=DBI/NM_001079862.2/0;CC=c.9+422C>T;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.89C>T;ProtCh=p.A30V;VC=Missense;Gene=DBI/NM_001178042.2/0;CC=c.-21-82C>T;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.39+392C>T;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.-26-77C>T;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.-26-77C>T;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.-21-82C>T;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.-26-77C>T;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.-64+268C>T;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.146C>T;ProtCh=p.A49V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:156:98:0:0:85,2,69:2717,21,2015:0.00,-0.20,188.30:0.00,-0.07,79.45:0.00,-0.13,108.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:37.6,130.0,92.5:0,0,0:0,0,0:86,81,53:54,69,85:37,29,33:-,NM_001178017.1(DBI) c.146C>T (p.Ala49Val):-,0.18:-,NOT_FOUND 2 120125105 . G . . NT END=120125134;NT GT ./. 2 120125221 . G . . NT END=120125250;NT GT ./. 2 120125363 rs3091405 C A 148 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=C/0.7115,A/0.2885;Gene=DBI/NM_001079862.2/0;CC=c.10-401C>A;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.135+259C>A;VC=Intron;Gene=DBI/NM_001178042.2/0;CC=c.60+143C>A;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.40-401C>A;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.60+143C>A;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.60+143C>A;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.60+143C>A;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.60+143C>A;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.-63-401C>A;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.192+259C>A;VC=Intron;Gene=DBI/NM_001079863.1/0;CC=c.-133C>A;VC=5UTR;DM=DBI/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:119:65:0:0:53,65,1:1583,2084,34:148.24,0.00,1.56:66.29,0.00,0.79:81.95,0.00,0.77:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:65.3,17.9,34.0:0,0,0:0,0,0:108,79,134:43,67,17:22,35,0:NM_001178017.1(DBI) c.192+259C>A,-:0.29,-:NOT_FOUND,- 2 120125384 rs3091406 G A 153 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.8395,A/0.1605;PC=0.026;Gene=DBI/NM_001079862.2/0;CC=c.10-380G>A;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.135+280G>A;VC=Intron;Gene=DBI/NM_001178042.2/0;CC=c.60+164G>A;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.40-380G>A;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.60+164G>A;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.60+164G>A;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.60+164G>A;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.60+164G>A;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.-63-380G>A;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.192+280G>A;VC=Intron;Gene=DBI/NM_001079863.1/0;CC=c.-112G>A;VC=5UTR;DM=DBI/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:63:0:0:54,61:1613,1981:152.55,0.00:71.24,0.00:81.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,16.3:0,0:0,0:105,80:45,67:30,25:NM_001178017.1(DBI) c.192+280G>A,-:0.18,-:NOT_FOUND,- 2 120125508 . g . . NT END=120125763;NT GT ./. 2 120125689 rs8192503 A T 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.8397,T/0.1603;Gene=DBI/NM_001079862.2/0;CC=c.10-75A>T;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.136-75A>T;VC=Intron;Gene=DBI/NM_001178042.2/0;CC=c.61-75A>T;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.40-75A>T;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.61-75A>T;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.61-75A>T;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.61-75A>T;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.61-75A>T;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.-63-75A>T;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.193-75A>T;VC=Intron;Gene=DBI/NM_001079863.1/0;CC=c.13-75A>T;VC=Intron;DM=DBI/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:28:0:0:25,19:751,635:0.00,59.49:0.00,47.33:0.00,12.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,36.2:0,0:0,0:82,77:69,73:32,36:-,NM_001178017.1(DBI) c.193-75A>T:-,0.18:-,NOT_FOUND 2 120125882 . G . . NT END=120128315;NT GT ./. 2 120125910 rs2276596 C A 70 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.8391,A/0.1609;Gene=DBI/NM_001079862.2/0;CC=c.127+29C>A;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.253+29C>A;VC=Intron;Gene=DBI/NM_001178042.2/0;CC=c.178+29C>A;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.157+29C>A;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.178+29C>A;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.178+29C>A;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.178+29C>A;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.178+29C>A;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.55+29C>A;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.310+29C>A;VC=Intron;Gene=DBI/NM_001079863.1/0;CC=c.130+29C>A;VC=Intron;DM=DBI/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:40:6:0:0:23,17:709,508:69.99,0.00:5.75,0.00:64.24,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:63.7,43.6:0,0:0,0:121,107:30,43:22,13:NM_001178017.1(DBI) c.310+29C>A,-:0.18,-:0.176303,- 2 120125936 rs2244135 T C 108 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.1306,C/0.8694;PC=0.002;Gene=DBI/NM_001079862.2/0;CC=c.127+55T>C;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.253+55T>C;VC=Intron;Gene=DBI/NM_001178042.2/0;CC=c.178+55T>C;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.157+55T>C;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.178+55T>C;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.178+55T>C;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.178+55T>C;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.178+55T>C;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.55+55T>C;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.310+55T>C;VC=Intron;Gene=DBI/NM_001079863.1/0;CC=c.130+55T>C;VC=Intron;DM=DBI/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:A,C:33:2:0:0:2,31:31,946:1.77,108.47:0.00,3.55:1.77,104.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.5,66.5:0,0:0,0:31,119:119,32:24,27:NM_001178017.1(DBI) c.310+55T>C,NM_001178017.1(DBI) c.310+55T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 120125973 rs3091407 G C 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8518,C/0.1482;Gene=DBI/NM_001079862.2/0;CC=c.127+92G>C;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.253+92G>C;VC=Intron;Gene=DBI/NM_001178042.2/0;CC=c.178+92G>C;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.157+92G>C;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.178+92G>C;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.178+92G>C;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.178+92G>C;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.178+92G>C;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.55+92G>C;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.310+92G>C;VC=Intron;Gene=DBI/NM_001079863.1/0;CC=c.130+92G>C;VC=Intron;DM=DBI/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:17:0:0:0:7,10:220,344:20.33,0.00:0.00,0.00:20.33,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:59.9,62.9:0,0:0,0:93,102:58,49:11,23:NM_001178017.1(DBI) c.310+92G>C,-:0.16,-:NOT_FOUND,- 2 120128379 . G . . NT END=120129820;NT GT ./. 2 120128482 rs956309 C T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8393,T/0.1607;Gene=DBI/NM_001079862.2/0;CC=c.190+104C>T;VC=Intron;Gene=DBI/NM_001178041.2/0;CC=c.316+104C>T;VC=Intron;Gene=DBI/NM_001178042.2/0;CC=c.241+104C>T;VC=Intron;Gene=DBI/NM_001178043.2/0;CC=c.220+104C>T;VC=Intron;Gene=DBI/NM_001282633.1/0;CC=c.241+104C>T;VC=Intron;Gene=DBI/NM_001282634.1/1;CC=c.241+104C>T;VC=Intron;Gene=DBI/NM_020548.7/0;CC=c.241+104C>T;VC=Intron;Gene=DBI/NM_001282635.1/0;CC=c.241+104C>T;VC=Intron;Gene=DBI/NM_001282636.1/0;CC=c.118+104C>T;VC=Intron;Gene=DBI/NR_104221.1/0;VC=NonCoding;Gene=DBI/NM_001178017.1/0;CC=c.373+104C>T;VC=Intron;Gene=DBI/NM_001079863.1/0;CC=c.193+104C>T;VC=Intron;DM=DBI/ACBP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:1:0:0:11,9:305,276:0.00,25.92:0.00,1.77:0.00,24.15:0.00,1.00:0.00,0.63:0.00,1.00:60,60:12.9,42.3:0,0:0,0:91,107:60,44:36,35:-,NM_001178017.1(DBI) c.373+104C>T:-,0.18:-,NOT_FOUND 2 120129895 . G . . NT END=120187502;NT GT ./. 2 120187344 rs11123523 A G 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4593,G/0.5407;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:510:58.15:58.15:0.00:1.00:1.00:0.00:60:36.9:0:0:20:131:13:NM_183240.2(TMEM37) c.-34-u2102A>G,NM_183240.2(TMEM37) c.-34-u2102A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 120187560 . G . . NT END=120189445;NT GT ./. 2 120189300 rs2043867 G A 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.868,A/0.132 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:13,14:418,416:39.87,0.00:39.87,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:61.5,28.4:0,0:0,0:40,63:111,76:16,33:NM_183240.2(TMEM37) c.-34-u146G>A,-:0.11,-:NOT_FOUND,- 2 120189404 rs4340531 A G 317 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.1358,G/0.8642 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:61:0:0:82:2781:317.21:165.22:151.99:1.00:1.00:1.00:60:71.1:0:0:62:85:25:NM_183240.2(TMEM37) c.-34-u42A>G,NM_183240.2(TMEM37) c.-34-u42A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 120189433 rs4599130 G C 345 nt VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.1358,C/0.8642 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:96:70:0:0:95,1:3001,13:344.93,0.19:165.32,0.19:179.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.2,202.0:0,0:0,0:75,121:66,30:30,0:NM_183240.2(TMEM37) c.-34-u13G>C,NM_183240.2(TMEM37) c.-34-u13G>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 120189501 . G . . NT END=120194464;NT GT ./. 2 120189720 rs4344946 A G 21 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.105,G/0.895;Gene=TMEM37/NM_183240.2/1;CC=c.21+220A>G;VC=Intron;DM=TMEM37/TMEM37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:175:20.79:1.89:18.90:1.00:1.00:1.00:60:42.6:0:0:88:63:22:NM_183240.2(TMEM37) c.21+220A>G,NM_183240.2(TMEM37) c.21+220A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 120194237 rs2579634 A G 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4085,G/0.5915;PC=0.058;Gene=TMEM37/NM_183240.2/1;CC=c.22-228A>G;VC=Intron;DM=TMEM37/TMEM37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:250:29.19:29.19:0.00:1.00:1.00:0.00:60:83.2:0:0:29:122:15:NM_183240.2(TMEM37) c.22-228A>G,NM_183240.2(TMEM37) c.22-228A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 120194239 rs2587661 G A 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4058,A/0.5942;PC=0.008;Gene=TMEM37/NM_183240.2/1;CC=c.22-226G>A;VC=Intron;DM=TMEM37/TMEM37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:249:29.14:29.14:0.00:1.00:1.00:0.00:60:83.2:0:0:31:120:15:NM_183240.2(TMEM37) c.22-226G>A,NM_183240.2(TMEM37) c.22-226G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 120194311 rs79257260 C T 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.8686,T/0.1314;Gene=TMEM37/NM_183240.2/1;CC=c.22-154C>T;VC=Intron;DM=TMEM37/TMEM37 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,T:19:19:0:0:5,14:158,388:0.00,40.61:0.00,40.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:34.2,51.8:0,0:0,0:55,32:94,118:28,26:-,NM_183240.2(TMEM37) c.22-154C>T:-,0.11:-,NOT_FOUND 2 120194651 rs3217464 A AGTGTGC 454 PASS VT=INS;SST=Single;DP=143;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1036,AGTGTG/.,AGTGTGC/0.8964,AGTGTGCCTGC/.;NP=1;NP=22;PC=0.936;Gene=TMEM37/NM_183240.2/1;CC=c.208_209insGTGTGC;ProtCh=p.Q69_I71insSVP;VC=InFrameIns;DM=TMEM37/TMEM37;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,C,AGTGTGC:143:92:130:0:12,1,130:371,32,4098:0.00,1.50,453.89:0.00,-0.02,225.95:0.00,1.52,227.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.4,44.0,7.9:0,0,0:0,0,0:143,97,77:1,54,70:2,0,29:-,NM_183240.2(TMEM37) c.208_209insGTGTGC (p.Thr70delinsSerValPro):-,NOT_FOUND:-,0.884708 2 120195017 . C . . NT END=120197692;NT GT ./. 2 120195182 rs2278565 C G 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.1332,G/0.8668;Gene=TMEM37/NM_183240.2/1;CC=c.*166C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:0:0:0:22:656:76.02:0.00:76.02:1.00:0.00:1.00:60:43.3:0:0:117:33:22:NM_183240.2(TMEM37) c.*166C>G,NM_183240.2(TMEM37) c.*166C>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 120197670 rs1042656 G A 233 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.4489,A/0.5511;Gene=SCTR/NM_002980.2/1;CC=c.*23C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:174:A,G:64:53:0:0:63,1:2045,6:233.16,0.00:154.12,0.00:79.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,41.0:0,0:0,0:45,24:101,127:34,0:NM_002980.2(SCTR) c.*23C>T,NM_002980.2(SCTR) c.*23C>T:0.61,0.61:0.589497,0.589497 2 120197834 . C . . NT END=120199133;NT GT ./. 2 120199140 rs1126839 A G 176 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.129,G/0.871;PC=0.001;Gene=SCTR/NM_002980.2/1;CC=c.1176T>C;ProtCh=p.N392=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C,G:49:42:0:0:1,48:12,1536:0.27,175.92:0.00,100.45:0.27,75.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:106.0,36.7:0,0:0,0:46,49:105,98:0,27:NM_002980.2(SCTR) c.1176T>C (p.(=)),NM_002980.2(SCTR) c.1176T>C (p.(=)):0.88,0.88:0.859911,0.859911 2 120199176 . C . . NT END=120204334;NT GT ./. 2 120204052 rs11123526 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.09285,C/0.9071;Gene=SCTR/NM_002980.2/1;CC=c.1140+283A>G;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:126:14.50:14.50:0.00:1.00:1.00:0.00:60:68.0:0:0:28:122:21:NM_002980.2(SCTR) c.1140+283A>G,NM_002980.2(SCTR) c.1140+283A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 120204462 . C . . NT END=120206264;NT GT ./. 2 120204514 rs6720643 C T 140 nt VT=SNV;PN=T;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.9938,T/0.00619;NP=99;PC=0.002;Gene=SCTR/NM_002980.2/1;CC=c.1014-53G>A;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:53:0:0:60,50:1972,1489:0.00,139.72:0.00,51.00:0.00,88.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,45.5:0,0:0,0:95,93:46,52:29,37:-,NM_002980.2(SCTR) c.1014-53G>A:-,0.01:-,NOT_FOUND 2 120204617 rs6748349 G A 136 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.09425,A/0.9058;Gene=SCTR/NM_002980.2/1;CC=c.1014-156C>T;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:0:0:0:37:1188:136.40:0.00:136.40:1.00:0.00:1.00:60:49.9:0:0:103:45:29:NM_002980.2(SCTR) c.1014-156C>T,NM_002980.2(SCTR) c.1014-156C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 2 120206165 rs190043934 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9982,A/0.001797;NP=16;Gene=SCTR/NM_002980.2/1;CC=c.1013+100C>T;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,G:14:14:0:0:8,6:253,145:25.02,0.00:25.02,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.5,17.8:0,0:0,0:53,44:97,107:32,31:NM_002980.2(SCTR) c.1013+100C>T,-:0.0023,-:NOT_FOUND,- 2 120206357 . C . . NT END=120209585;NT GT ./. 2 120209656 . C . . NT END=120210862;NT GT ./. 2 120209689 rs2587692 A G 146 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.09325,G/0.9067;PC=0.738;Gene=SCTR/NM_002980.2/1;CC=c.852-34T>C;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:G:40:22:0:0:40:1267:145.74:49.99:95.75:1.00:1.00:1.00:60:42.0:0:0:105:35:28:NM_002980.2(SCTR) c.852-34T>C,NM_002980.2(SCTR) c.852-34T>C:0.91,0.91:0.900031,0.900031 2 120210924 . C . . NT END=120219422;NT GT ./. 2 120219577 . C . . NT END=120221698;NT GT ./. 2 120219797 rs2254122 C T 51 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4639,T/0.5361;PC=0.001;Gene=SCTR/NM_002980.2/1;CC=c.637-221G>A;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:0:0:0:15:442:51.22:0.00:51.22:1.00:0.00:1.00:60:45.8:0:0:98:53:34:NM_002980.2(SCTR) c.637-221G>A,NM_002980.2(SCTR) c.637-221G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 120221481 rs2253872 T A 18 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=SCTR/NM_002980.2/1;CC=c.636+218A>T;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:157:18.08:18.08:0.00:1.00:1.00:0.00:60:68.4:0:0:4:147:3:NM_002980.2(SCTR) c.636+218A>T,NM_002980.2(SCTR) c.636+218A>T:0.76,0.76:NOT_FOUND,NOT_FOUND 2 120221585 rs2253870 G A 87 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.4465,A/0.5535;Gene=SCTR/NM_002980.2/1;CC=c.636+114C>T;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:23:0:0:24:754:86.80:77.46:9.34:1.00:1.00:1.00:60:41.6:0:0:24:127:16:NM_002980.2(SCTR) c.636+114C>T,NM_002980.2(SCTR) c.636+114C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 2 120221832 . C . . NT END=120223364;NT GT ./. 2 120221984 rs2579647 A C 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.09225,C/0.9077;Gene=SCTR/NM_002980.2/1;CC=c.504-153T>G;VC=Intron;DM=SCTR/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:420:48.62:0.00:48.62:1.00:0.00:1.00:60:44.7:0:0:117:32:19:NM_002980.2(SCTR) c.504-153T>G,NM_002980.2(SCTR) c.504-153T>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 120223463 . C . . NT END=120231028;NT GT ./. 2 120230901 rs2579640 C T 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3179,T/0.6821;Gene=SCTR/NM_002980.2/1;CC=c.405+128G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:271:31.79:31.79:0.00:1.00:1.00:0.00:60:41.9:0:0:61:89:23:NM_002980.2(SCTR) c.405+128G>A,NM_002980.2(SCTR) c.405+128G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 120230998 rs2579641 G A 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.2111,A/0.7889;Gene=SCTR/NM_002980.2/1;CC=c.405+31C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:17:0:0:21:626:72.52:53.82:18.70:1.00:1.00:1.00:60:52.7:0:0:49:102:25:NM_002980.2(SCTR) c.405+31C>T,NM_002980.2(SCTR) c.405+31C>T:0.81,0.81:0.791942,0.791942 2 120231133 . C . . NT END=120236386;NT GT ./. 2 120231165 rs2587701 T C 109 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.3173,C/0.6827;PC=0.122;Gene=SCTR/NM_002980.2/1;CC=c.302-33A>G;VC=Intron;DM=SCTR/HRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:C:32:13:0:0:32:944:109.35:33.35:75.99:1.00:1.00:1.00:60:40.8:0:0:114:32:17:NM_002980.2(SCTR) c.302-33A>G,NM_002980.2(SCTR) c.302-33A>G:0.72,0.72:0.668538,0.668538 2 120231303 rs2587702 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1304,C/0.8696;Gene=SCTR/NM_002980.2/1;CC=c.302-171A>G;VC=Intron;DM=SCTR/HRM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:158:18.65:2.88:15.78:1.00:1.00:1.00:60:47.2:0:0:84:66:46:NM_002980.2(SCTR) c.302-171A>G,NM_002980.2(SCTR) c.302-171A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 120236878 . t . . NT END=120252003;NT GT ./. 2 120252125 . C . . NT END=120281730;NT GT ./. 2 120281803 . G . . NT END=120303707;NT GT ./. 2 120282015 rs2244214 C T 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3844,T/0.6156;PC=0.834;Gene=SCTR/NM_002980.2/1;CC=c.-213G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:0:0:0:4,3:114,96:0.00,8.96:0.00,0.00:0.00,8.96:0.00,0.69:0.00,0.00:0.00,0.69:60,60:5.5,81.3:0,0:0,0:105,88:46,63:15,17:-,NM_002980.2(SCTR) c.-213G>A:-,0.57:-,NOT_FOUND 2 120282026 rs2244213 T G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3644,G/0.6356;PC=0.001;Gene=SCTR/NM_002980.2/1;CC=c.-224A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:G,T:6:0:0:0:3,3:101,99:9.73,0.00:0.00,0.00:9.73,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:81.3,7.3:0,0:0,0:99,103:52,48:17,4:NM_002980.2(SCTR) c.-224A>C,-:0.58,-:NOT_FOUND,- 2 120303820 rs2579624 A T 69 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.4091,T/0.5909;PC=0.007;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.113A>T;ProtCh=p.E38V;VC=Missense;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:55:28:0:0:31,24:976,742:0.00,69.27:0.00,19.29:0.00,49.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,36.7:0,0:0,0:93,63:57,76:33,37:-,NM_001271049.1(PCDP1) c.113A>T (p.Glu38Val):-,0.58:-,NOT_FOUND 2 120303847 . G . . NT END=120306660;NT GT ./. 2 120306762 . G . . NT END=120317264;NT GT ./. 2 120317352 . G . . NT END=120317503;NT GT ./. 2 120317603 . G . . NT END=120319589;NT GT ./. 2 120319691 . G . . NT END=120344694;NT GT ./. 2 120344799 . G . . NT END=120358793;NT GT ./. 2 120358804 rs55809171 G A 69 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.9766,A/0.02336;PC=0.002;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.642G>A;ProtCh=p.P214=;VC=Silent;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:53:32:0:0:23,1,29:737,13,868:69.19,0.07,0.00:36.65,0.20,0.00:32.54,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.6,154.0,3.0:0,0,0:0,0,0:65,112,75:86,39,72:35,0,34:NM_001271049.1(PCDP1) c.642G>A (p.(=)),-:0.03,-:NOT_FOUND,- 2 120358954 . G . . NT END=120360193;NT GT ./. 2 120360339 . G . . NT END=120362247;NT GT ./. 2 120362369 . G . . NT END=120362451;NT GT ./. 2 120362407 rs1568540 C T 297 nt VT=SNV;PN=A;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.1084,T/0.8916;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.912+39C>T;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:86:55:0:0:1,85:14,2577:0.27,297.41:0.27,139.58:0.00,157.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.0,39.3:0,0:0,0:32,87:118,57:0,29:NM_001271049.1(PCDP1) c.912+39C>T,NM_001271049.1(PCDP1) c.912+39C>T:0.89,0.89:0.892357,0.892357 2 120362564 . G . . NT END=120362756;NT GT ./. 2 120362866 . G . . NT END=120366077;NT GT ./. 2 120362897 rs1521914 T A 98 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.02496,A/0.975;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1133+32T>A;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:10:0:0:27:854:98.25:26.30:71.95:1.00:1.00:1.00:60:35.0:0:0:97:54:33:NM_001271049.1(PCDP1) c.1133+32T>A,NM_001271049.1(PCDP1) c.1133+32T>A:0.98,0.98:0.972372,0.972372 2 120366057 rs5833792 G GT 60 idl,rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=225;PC=0.005;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1134-9dupT;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:G,GT:22:22:23:0:4,18:138,724:0.00,60.40:0.00,39.14:0.00,21.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:55.8,39.8:0,5:0,0:106,52:39,99:28,18:-,NM_001271049.1(PCDP1) c.1134-21_1134-20insT:-,NOT_FOUND:-,NOT_FOUND 2 120366166 . G . . NT END=120369228;NT GT ./. 2 120369300 rs10864986 T C 129 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.01617,C/0.9838;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1293T>C;ProtCh=p.V431=;VC=Silent;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A,C:37:24:0:0:1,36:8,1122:0.15,128.79:0.15,64.42:0.00,64.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:68.0,34.2:0,0:0,0:127,95:24,45:0,28:NM_001271049.1(PCDP1) c.1293T>C (p.(=)),NM_001271049.1(PCDP1) c.1293T>C (p.(=)):0.99,0.99:0.986083,0.986083 2 120369319 . G . . NT END=120373186;NT GT ./. 2 120372985 rs1521910 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.01238,T/0.9876;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1312-202C>T;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:117:13.59:13.59:0.00:1.00:1.00:0.00:60:52.5:0:0:31:119:19:NM_001271049.1(PCDP1) c.1312-202C>T,NM_001271049.1(PCDP1) c.1312-202C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 120373286 . G . . NT END=120383158;NT GT ./. 2 120383265 . G . . NT END=120385228;NT GT ./. 2 120385094 rs72249539 GATATAT G 32 idl,nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=192;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1517-113_1517-108delTATATA;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:GATATAT,G:14:17:0:15:3,11:97,395:0.00,32.12:0.00,32.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.74:60,60:32.0,29.8:0,4:0,0:109,48:29,103:21,29:-,NM_001271049.1(PCDP1) c.1517-134_1517-129delATATAT:-,NOT_FOUND:-,NOT_FOUND 2 120385363 . G . . NT END=120387450;NT GT ./. 2 120385549 rs1915836 A C 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.04433,C/0.9557;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1650+187A>C;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:187:21.98:0.00:21.98:1.00:0.00:1.00:60:60.4:0:0:118:33:22:NM_001271049.1(PCDP1) c.1650+187A>C,NM_001271049.1(PCDP1) c.1650+187A>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 120385866 rs28454265 G C 14 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=213;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1650+504G>C;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:125:14.40:1.99:12.42:1.00:1.00:1.00:60:112.5:0:0:112:36:9:NM_001271049.1(PCDP1) c.1650+504G>C,NM_001271049.1(PCDP1) c.1650+504G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 120385867 rs4849788 G T 15 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=211;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1650+505G>T;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:133:15.21:1.99:13.22:1.00:1.00:1.00:60:112.5:0:0:113:35:9:NM_001271049.1(PCDP1) c.1650+505G>T,NM_001271049.1(PCDP1) c.1650+505G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 120387532 . G . . NT END=120388145;NT GT ./. 2 120387637 rs12711931 G C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.01138,C/0.9886;NP=2471;PC=0.004;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1731+106G>C;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:346:39.81:0.00:39.81:1.00:0.00:1.00:60:77.7:0:0:92:59:31:NM_001271049.1(PCDP1) c.1731+106G>C,NM_001271049.1(PCDP1) c.1731+106G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 120387640 rs2272056 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8259,C/0.1741;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1731+109T>C;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,C,T:11:0:0:0:1,5,5:11,155,168:0.40,14.86,0.00:0.00,0.00,0.00:0.40,14.86,0.00:0.00,0.93,0.00:0.00,0.00,0.00:0.00,0.93,0.00:60,60,60:131.0,65.2,79.6:0,0,0:0,0,0:38,95,112:99,56,39:0,31,21:NM_001271049.1(PCDP1) c.1731+109T>C,-:0.16,-:NOT_FOUND,- 2 120388254 . G . . NT END=120388342;NT GT ./. 2 120388412 rs2272058 G A 231 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.02376,A/0.9762;Gene=CFAP221/NR_073133.1/0;VC=NonCoding;Gene=CFAP221/NM_001271049.1/1;CC=c.1909G>A;ProtCh=p.V637I;VC=Missense;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:A:63:40:0:0:63:2009:230.86:106.70:124.15:1.00:1.00:1.00:60:36.1:0:0:83:66:27:NM_001271049.1(PCDP1) c.=,NM_001271049.1(PCDP1) c.=:0.98,0.98:0.977241,0.977241 2 120388663 . A . . NT END=120395834;NT GT ./. 2 120395657 rs939770 A G 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.02776,G/0.9722;PC=0.002;Gene=CFAP221/NM_001271049.1/1;CC=c.1975-178A>G;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:341:38.87:38.87:0.00:1.00:1.00:0.00:60:50.1:0:0:53:97:18:NM_001271049.1(PCDP1) c.1975-178A>G,NM_001271049.1(PCDP1) c.1975-178A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 120395665 rs565803903 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;Gene=CFAP221/NM_001271049.1/1;CC=c.1975-170C>T;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:C,T:12:12:0:0:7,5:217,176:0.00,16.45:0.00,16.45:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:31.7,66.2:0,0:0,0:64,50:87,101:32,32:-,NM_001271049.1(PCDP1) c.1975-170C>T:-,NOT_FOUND:-,NOT_FOUND 2 120395994 . G . . NT END=120397356;NT GT ./. 2 120396174 rs939771 C T 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.02476,T/0.9752;Gene=CFAP221/NM_001271049.1/1;CC=c.2133+181C>T;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:211:24.41:0.00:24.41:1.00:0.00:1.00:60:57.3:0:0:62:89:35:NM_001271049.1(PCDP1) c.2133+181C>T,NM_001271049.1(PCDP1) c.2133+181C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 120396237 rs939772 A T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.04573,T/0.9543;PC=0.513;Gene=CFAP221/NM_001271049.1/1;CC=c.2133+244A>T;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:75.8:0:0:108:42:10:NM_001271049.1(PCDP1) c.2133+244A>T,NM_001271049.1(PCDP1) c.2133+244A>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 120397449 . G . . NT END=120404533;NT GT ./. 2 120397694 rs939773 A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.001997,G/0.998;NP=457;Gene=CFAP221/NM_001271049.1/1;CC=c.2225+246A>G;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:126:14.94:0.00:14.94:1.00:0.00:1.00:60:31.8:0:0:66:85:21:NM_001271049.1(PCDP1) c.2225+246A>G,NM_001271049.1(PCDP1) c.2225+246A>G:1,1:NOT_FOUND,NOT_FOUND 2 120404627 . G . . NT END=120409549;NT GT ./. 2 120404629 rs564661593 AT A 72 idl,rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=689;PC=0.088;Gene=CFAP221/NM_001271049.1/1;CC=c.2318+17delT;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:38:25:1:28:14,1,23:410,32,869:0.00,1.90,71.58:0.00,0.98,29.62:0.00,0.92,41.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.3,0.0,10.4:1,0,5:0,0,0:139,75,93:9,59,51:10,0,26:-,NM_001271049.1(PCDP1) c.2318+4delT:-,NOT_FOUND:-,NOT_FOUND 2 120409351 rs1521911 C T 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2011,T/0.7989;PC=0.029;Gene=CFAP221/NM_001271049.1/1;CC=c.2319-199C>T;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:143:16.65:16.65:0.00:1.00:1.00:0.00:60:55.6:0:0:23:128:11:NM_001271049.1(PCDP1) c.2319-199C>T,NM_001271049.1(PCDP1) c.2319-199C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 2 120409430 rs1521912 A G 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.02516,G/0.9748;PC=0.017;Gene=CFAP221/NM_001271049.1/1;CC=c.2319-120A>G;VC=Intron;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:271:31.38:31.38:0.00:1.00:1.00:0.00:60:46.4:0:0:72:79:30:NM_001271049.1(PCDP1) c.2319-120A>G,NM_001271049.1(PCDP1) c.2319-120A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 120409646 . G . . NT END=120413937;NT GT ./. 2 120414047 . A . . NT END=120438429;NT GT ./. 2 120414083 rs6761357 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4081,T/0.5919;Gene=CFAP221/NM_001271049.1/1;CC=c.*37C>T;VC=3UTR;Gene=CFAP221/NR_073132.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:7:0:0:11,8:284,276:0.00,25.85:0.00,13.90:0.00,11.95:0.00,0.99:0.00,0.97:0.00,1.00:60,60:28.3,34.5:0,0:0,0:84,88:66,62:35,25:-,NM_001271049.1(PCDP1) c.*37C>T:-,0.59:-,0.598201 2 120436089 rs55656545 A ATG 15 sb,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=156;NP=2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,ATG:11:10:5:0:6,5:185,155:0.00,14.59:0.00,13.70:0.00,0.89:0.00,0.93:0.00,0.99:0.00,0.91:60,60:14.2,27.8:0,0:0,0:89,42:60,108:31,17:-,NM_001105198.1(TMEM177) c.-473-u654_-473-u653insTG:-,NOT_FOUND:-,NOT_FOUND 2 120436139 rs55882416 T TGG 43 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.271,TGG/0.729;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.271,TGG/0.729;DB;DBA=NA;PAF=T/0.271,TGG/0.729;NP=270;PC=0.177;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G,TGG:16:10:14:0:2,14:22,374:1.44,42.97:1.44,15.32:0.00,27.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,26.4:0,0:0,0:148,50:2,86:0,30:NM_001105198.1(TMEM177) c.-473-u604_-473-u603insGG,NM_001105198.1(TMEM177) c.-473-u604_-473-u603insGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 120436227 rs72012072 GGTGTGT G 18 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;PC=0.254;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:GGTGTGT,G:7:2:0:11:1,6:29,164:0.00,17.74:0.00,3.71:0.00,14.03:0.00,1.00:0.00,0.98:0.00,1.00:60,60:59.0,9.7:0,0:0,0:147,97:4,31:0,19:-,NM_001105198.1(TMEM177) c.-473-u515_-473-u510delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 120436234 . G T 22 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;PC=0.253 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,T:10:2:0:0:3,7:102,209:0.00,21.55:0.00,3.67:0.00,17.88:0.00,1.00:0.00,0.92:0.00,1.00:60,60:25.3,9.7:3,7:0,0:108,84:43,32:0,32:-,NM_001105198.1(TMEM177) c.-473-u509G>T:-,NOT_FOUND:-,NOT_FOUND 2 120436268 rs70949306 GGT G 16 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GGT/0.2592,G/0.7408;NP=353;PC=0.221;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:GGT,G:10:2:0:7:4,6:129,167:0.00,16.31:0.00,1.54:0.00,14.77:0.00,0.98:0.00,0.83:0.00,0.98:60,60:28.8,15.3:0,1:0,0:142,66:9,62:4,20:-,NM_001105198.1(TMEM177) c.-473-u474_-473-u473delGT:-,NOT_FOUND:-,NOT_FOUND 2 120438523 rs13011768 A G 576 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=A/0.2218,G/0.7782;PC=0.100;Gene=TMEM177/NM_001105198.1/0;CC=c.94A>G;ProtCh=p.I32V;VC=Missense;Gene=TMEM177/NM_001105199.1/1;CC=c.94A>G;ProtCh=p.I32V;VC=Missense;Gene=TMEM177/NM_030577.2/0;CC=c.94A>G;ProtCh=p.I32V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:151:104:0:0:1,150:10,5055:0.07,576.47:0.00,309.81:0.07,266.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,42.1:0,0:0,0:77,72:74,77:0,36:NM_001105198.1(TMEM177) c.94A>G (p.Ile32Val),NM_001105198.1(TMEM177) c.94A>G (p.Ile32Val):0.78,0.78:0.77149,0.77149 2 120438696 rs939777 A G 493 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=A/0.01957,G/0.9804;PC=0.867;Gene=TMEM177/NM_001105198.1/0;CC=c.267A>G;ProtCh=p.Q89=;VC=Silent;Gene=TMEM177/NM_001105199.1/1;CC=c.267A>G;ProtCh=p.Q89=;VC=Silent;Gene=TMEM177/NM_030577.2/0;CC=c.267A>G;ProtCh=p.Q89=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:133:77:0:0:133:4300:493.10:229.07:264.03:1.00:1.00:1.00:60:43.9:0:0:72:75:34:NM_001105198.1(TMEM177) c.=,NM_001105198.1(TMEM177) c.=:0.99,0.99:0.978395,0.978395 2 120439230 rs1983406 C G 476 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=C/0.2218,A/.,G/0.7782,T/.;Gene=TMEM177/NM_001105198.1/0;CC=c.801C>G;ProtCh=p.D267E;VC=Missense;Gene=TMEM177/NM_001105199.1/1;CC=c.801C>G;ProtCh=p.D267E;VC=Missense;Gene=TMEM177/NM_030577.2/0;CC=c.801C>G;ProtCh=p.D267E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:127:88:0:0:127:4152:475.64:249.07:226.57:1.00:1.00:1.00:60:40.4:0:0:76:73:31:NM_001105198.1(TMEM177) c.801C>G (p.Asp267Glu),NM_001105198.1(TMEM177) c.801C>G (p.Asp267Glu):0.78,0.78:0.771106,0.771106 2 120439366 . T . . NT END=120567429;NT GT ./. 2 120439459 rs4849797 C A 106 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2187,A/0.7813;Gene=TMEM177/NM_001105198.1/0;CC=c.*94C>A;VC=3UTR;Gene=TMEM177/NM_001105199.1/1;CC=c.*94C>A;VC=3UTR;Gene=TMEM177/NM_030577.2/0;CC=c.*94C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:0:0:0:29:921:105.86:0.00:105.86:1.00:0.00:1.00:60:42.1:0:0:82:68:26:NM_001105198.1(TMEM177) c.*94C>A,NM_001105198.1(TMEM177) c.*94C>A:0.78,0.78:NOT_FOUND,NOT_FOUND 2 120466268 rs13021014 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4968,T/0.5032 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:8:6:0:0:5,3:159,104:0.00,9.53:0.00,4.77:0.00,4.77:0.00,0.67:0.00,0.93:0.00,0.93:60,60:23.8,34.7:0,0:0,0:102,47:48,104:33,3:-,chr2 g.120466267C>T (intergenic):-,0.54:-,NOT_FOUND 2 120524029 rs11896664 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10;PC=0.119;Gene=PTPN4/NM_002830.3/1;CC=c.-18+6069T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:142:16.11:14.07:2.04:1.00:1.00:1.00:60:129.0:0:0:70:81:6:NM_002830.3(PTPN4) c.-18+6069T>C,NM_002830.3(PTPN4) c.-18+6069T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 120524033 . T C 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=0.153;Gene=PTPN4/NM_002830.3/1;CC=c.-18+6073T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:66,68:6.35,0.00:6.50,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:204.0,99.0:0,0:0,0:74,57:77,93:1,5:NM_002830.3(PTPN4) c.-18+6073T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 120524050 . GTGTGTGTGTC G 14 nt VT=DEL;SST=Single;DP=5;NP=18;PC=0.009;Gene=PTPN4/NM_002830.3/1;CC=c.-18+6100_-18+6109delCTGTGTGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GTGTGTGTGTC,G:5:5:0:4:1,4:36,128:0.00,13.62:0.00,8.50:0.00,5.12:0.00,0.96:0.00,0.96:0.00,1.00:60,70:72.0,104.8:0,0:0,0:80,52:71,83:0,20:-,NM_002830.3(PTPN4) c.-18+6091_-18+6100delTGTGTGTGTC:-,NOT_FOUND:-,NOT_FOUND 2 120567568 . G . . NT END=120620111;NT GT ./. 2 120620092 . AT A 10 idl,rn VT=DEL;SST=Single;DP=32;NP=82;PC=0.167;Gene=PTPN4/NM_002830.3/1;CC=c.139-5delT;VC=Intron;DM=PTPN4/FERM_M;DM=PTPN4/Y_phosphatase;DM=PTPN4/FERM_M;DM=PTPN4/FERM_N;DM=PTPN4/FERM_N;DM=PTPN4/FERM_N;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:AT,I,A:28:26:5:6:21,3,4:658,157,197:0.00,6.66,9.98:0.00,5.67,6.18:0.00,0.98,3.80:0.00,0.00,0.63:0.00,0.00,0.92:0.00,0.00,0.77:60,60,60:22.3,27.7,0.0:0,2,2:0,0,0:48,58,52:90,93,98:25,20,33:-,NM_002830.3(PTPN4) c.139-19delT:-,NOT_FOUND:-,0.194808 2 120620220 . G . . NT END=120634898;NT GT ./. 2 120634767 rs60021522 A AT 31 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6967,AT/0.3033;DB;DBA=NA;PAF=A/0.6967,AT/0.3033;NP=801;PC=0.049;Gene=PTPN4/NM_002830.3/1;CC=c.247-125dupT;VC=Intron;DM=PTPN4/Y_phosphatase;DM=PTPN4/FERM_M;DM=PTPN4/FERM_N;DM=PTPN4/FERM_N;DM=PTPN4/FERM_C;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:16:16:10:0:6,10:204,308:0.00,30.97:0.00,30.97:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.5,12.6:0,0:0,0:76,46:73,104:34,10:-,NM_002830.3(PTPN4) c.247-132_247-131insT:-,0.27:-,NOT_FOUND 2 120634942 . G . . NT END=120635039;NT GT ./. 2 120635119 . G . . NT END=120639361;NT GT ./. 2 120639407 . G . . NT END=120639672;NT GT ./. 2 120639726 . G . . NT END=120640078;NT GT ./. 2 120640200 . G . . NT END=120643370;NT GT ./. 2 120643280 rs74866537 G GT 16 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6544,GT/0.3456;NP=1463;Gene=PTPN4/NM_002830.3/1;CC=c.588-85dupT;VC=Intron;DM=PTPN4/FERM_M;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:G,GT:7:7:5:0:2,5:59,156:0.00,16.17:0.00,12.94:0.00,3.23:0.00,0.98:0.00,0.98:0.00,0.93:60,60:73.5,11.4:0,0:0,0:101,54:49,97:35,23:-,NM_002830.3(PTPN4) c.588-91_588-90insT:-,0.31:-,NOT_FOUND 2 120643459 . G . . NT END=120658293;NT GT ./. 2 120658143 rs3106241 G T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5763,T/0.4237;Gene=PTPN4/NM_002830.3/1;CC=c.676-151G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,T:7:7:0:0:2,5:71,160:0.00,16.56:0.00,16.56:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,41.4:0,0:0,0:55,64:94,86:10,9:-,NM_002830.3(PTPN4) c.676-151G>T:-,0.37:-,NOT_FOUND 2 120658383 . G . . NT END=120672754;NT GT ./. 2 120672819 . G . . NT END=120677644;NT GT ./. 2 120677523 rs55744502 C G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7234,G/0.2766;PC=0.071;Gene=PTPN4/NM_002830.3/1;CC=c.829-122C>G;VC=Intron;DM=PTPN4/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,G:6:6:0:0:3,3:86,97:0.00,9.33:0.00,9.33:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:11.3,32.3:0,0:0,0:107,9:43,142:42,8:-,NM_002830.3(PTPN4) c.829-122C>G:-,0.25:-,NOT_FOUND 2 120677818 . G . . NT END=120684173;NT GT ./. 2 120684243 . G . . NT END=120689999;NT GT ./. 2 120689905 rs2292361 A G 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4229,G/0.5771;PC=0.429;Gene=PTPN4/NM_002830.3/1;CC=c.1071-95A>G;VC=Intron;DM=PTPN4/FA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,G:19:18:0:0:7,12:192,394:0.00,39.71:0.00,36.75:0.00,2.96:0.00,1.00:0.00,1.00:0.00,0.99:60,60:13.4,50.2:0,0:0,0:30,42:116,108:27,21:-,NM_002830.3(PTPN4) c.1071-95A>G:-,0.63:-,NOT_FOUND 2 120690126 . G . . NT END=120692375;NT GT ./. 2 120692101 rs9308777 A G 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3029,G/0.6971;Gene=PTPN4/NM_002830.3/1;CC=c.1197-275A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:89:10.68:10.68:0.00:1.00:1.00:0.00:60:45.0:0:0:58:92:48:NM_002830.3(PTPN4) c.1197-275A>G,NM_002830.3(PTPN4) c.1197-275A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 2 120692535 . G . . NT END=120702656;NT GT ./. 2 120692714 rs4849810 G C 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.00619,C/0.9938;NP=1517;Gene=PTPN4/NM_002830.3/1;CC=c.1355+180G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:169:19.28:0.00:19.28:1.00:0.00:1.00:60:33.8:0:0:137:14:12:NM_002830.3(PTPN4) c.1355+180G>C,NM_002830.3(PTPN4) c.1355+180G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 120702817 . G . . NT END=120703916;NT GT ./. 2 120702972 rs7600358 T A 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2758,A/0.7242;Gene=PTPN4/NM_002830.3/1;CC=c.1515+156T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,T:5:0:0:0:4,1:125,33:13.32,0.00:0.00,0.00:13.32,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:35.8,0.0:0,0:0,0:82,71:68,79:44,0:NM_002830.3(PTPN4) c.1515+156T>A,-:0.75,-:NOT_FOUND,- 2 120703842 rs2289581 A G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2754,G/0.7246;Gene=PTPN4/NM_002830.3/1;CC=c.1516-75A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G:15:14:0:0:12,3:395,100:0.00,8.17:0.00,8.32:0.00,-0.15:0.00,0.55:0.00,0.92:0.00,0.47:60,60:0.7,87.7:0,0:0,0:33,38:117,113:28,34:-,NM_002830.3(PTPN4) c.1516-75A>G:-,0.75:-,NOT_FOUND 2 120704001 . G . . NT END=120704093;NT GT ./. 2 120704151 . G . . NT END=120709548;NT GT ./. 2 120704164 rs398104663 A AT 14 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3924,AT/0.6076,ATT/.;DB;DBA=NA;PAF=A/0.3924,AT/0.6076;NP=2906;PC=0.002;Gene=PTPN4/NM_002830.3/1;CC=c.1656+15dupT;VC=Intron;DM=PTPN4/PDZ;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,AT:19:4:5:0:14,5:454,164:0.00,14.03:0.00,3.06:0.00,10.97:0.00,0.86:0.00,0.71:0.00,0.86:60,60:6.1,35.8:0,0:0,0:96,107:54,43:29,27:-,NM_002830.3(PTPN4) c.1656+14_1656+15insT:-,0.65:-,0.585573 2 120704166 rs371421915 G T 17 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.3904,T/0.6096;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=PTPN4/NM_002830.3/1;CC=c.1656+16G>T;VC=Intron;DM=PTPN4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:G,T:18:4:0:0:12,6:408,191:0.00,16.99:0.00,3.12:0.00,13.86:0.00,0.94:0.00,0.81:0.00,0.94:60,60:5.0,34.2:0,5:0,0:85,119:64,31:31,23:-,NM_002830.3(PTPN4) c.1656+16G>T:-,0.66:-,NOT_FOUND 2 120709317 rs4480992 G T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2764,T/0.7236;PC=0.001;Gene=PTPN4/NM_002830.3/1;CC=c.1657-232G>T;VC=Intron;DM=PTPN4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T:4:4:0:0:1,3:33,102:0.00,10.65:0.00,10.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,47.3:0,0:0,0:11,54:140,96:0,2:-,NM_002830.3(PTPN4) c.1657-232G>T:-,0.75:-,NOT_FOUND 2 120709706 . G . . NT END=120712732;NT GT ./. 2 120712718 . AT A 13 idl,rn VT=DEL;SST=Single;DP=51;NP=62;PC=0.517;Gene=PTPN4/NM_002830.3/1;CC=c.1814-3delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:AT,I,A:49:45:3:7:41,2,6:1233,99,216:0.00,4.13,13.37:0.00,1.84,7.49:0.00,2.30,5.88:0.00,0.00,0.85:0.00,0.00,0.98:0.00,0.00,0.85:60,60,60:8.6,29.0,13.0:0,1,1:0,0,0:77,44,78:74,106,73:36,3,31:-,NM_002830.3(PTPN4) c.1814-14delT:-,NOT_FOUND:-,NOT_FOUND 2 120712900 . G . . NT END=120714419;NT GT ./. 2 120714401 . CT C 32 idl,rn VT=DEL;SST=Single;DP=43;NP=113;PC=0.005;Gene=PTPN4/NM_002830.3/1;CC=c.1981-3delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,CT,T,I,C:37:38:10:16:1,15,1,9,11:11,487,34,302,492:0.10,0.00,2.09,23.75,31.92:-0.14,0.00,0.98,14.86,20.12:0.23,0.00,1.11,8.89,11.80:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.99:60,60,60,60,60:94.0,29.9,34.0,51.4,49.0:0,0,0,1,5:0,0,0,0,0:61,51,1,35,45:90,96,136,116,99:0,22,0,20,20:-,NM_002830.3(PTPN4) c.1981-18delT:-,NOT_FOUND:-,NOT_FOUND 2 120714511 . G . . NT END=120714591;NT GT ./. 2 120714654 . G . . NT END=120718382;NT GT ./. 2 120718322 rs12618050 A G 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.4209,G/0.5791;Gene=PTPN4/NM_002830.3/1;CC=c.2134-61A>G;VC=Intron;DM=PTPN4/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:28:0:0:14,17:393,600:0.00,58.92:0.00,44.78:0.00,14.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.1,41.3:0,0:0,0:62,46:87,105:25,25:-,NM_002830.3(PTPN4) c.2134-61A>G:-,0.63:-,NOT_FOUND 2 120718530 . G . . NT END=120720191;NT GT ./. 2 120718672 rs6737776 T G 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.04573,G/0.9543;Gene=PTPN4/NM_002830.3/1;CC=c.2280+143T>G;VC=Intron;DM=PTPN4/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:129:15.24:0.00:15.24:1.00:0.00:1.00:60:30.0:0:0:90:60:14:NM_002830.3(PTPN4) c.2280+143T>G,NM_002830.3(PTPN4) c.2280+143T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 120720321 . G . . NT END=120723072;NT GT ./. 2 120723222 . G . . NT END=120725412;NT GT ./. 2 120725549 . G . . NT END=120734559;NT GT ./. 2 120734647 . G . . NT END=120776652;NT GT ./. 2 120776845 . G . . NT END=120799581;NT GT ./. 2 120776972 rs3216703 TG T 28 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=2763;Gene=EPB41L5/NM_001184939.1/0;CC=c.180+133delG;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.180+133delG;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.180+133delG;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.180+133delG;VC=Intron;DM=EPB41L5/FERM_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:17:0:0:9:8,9:249,285:0.00,27.70:0.00,0.00:0.00,27.70:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.0,2.9:0,0:0,0:98,123:51,28:30,10:-,NM_020909.3(EPB41L5) c.180+133delG:-,0.66:-,NOT_FOUND 2 120799379 rs3738971 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3774,T/0.6226;Gene=EPB41L5/NM_001184939.1/0;CC=c.181-203C>T;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.181-203C>T;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.181-203C>T;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.181-203C>T;VC=Intron;DM=EPB41L5/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:4:0:0:1,3:33,95:0.00,9.95:0.00,9.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:10.0,66.3:0,0:0,0:16,65:135,86:0,10:-,NM_020909.3(EPB41L5) c.181-203C>T:-,0.66:-,NOT_FOUND 2 120799687 . G . . NT END=120830753;NT GT ./. 2 120830797 . G . . NT END=120831675;NT GT ./. 2 120830815 rs3738970 A G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.3762,G/0.6238;PC=0.013;Gene=EPB41L5/NM_001184939.1/0;CC=c.328+19A>G;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.328+19A>G;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.328+19A>G;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.328+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:24:0:0:22,15:644,479:0.00,44.23:0.00,21.14:0.00,23.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,42.1:0,0:0,0:99,106:50,45:23,26:-,NM_020909.3(EPB41L5) c.328+19A>G:-,0.66:-,0.684251 2 120831007 rs3738969 T C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4111,C/0.5889;PC=0.015;Gene=EPB41L5/NM_001184939.1/0;CC=c.328+211T>C;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.328+211T>C;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.328+211T>C;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.328+211T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:C,T:11:0:0:0:6,5:178,120:17.39,0.00:0.00,0.00:17.39,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:39.3,3.4:0,0:0,0:103,118:48,33:33,29:NM_020909.3(EPB41L5) c.328+211T>C,-:0.63,-:NOT_FOUND,- 2 120831654 . CT C 10 rn VT=DEL;SST=Single;DP=39;NP=98;PC=0.033;Gene=EPB41L5/NM_001184939.1/0;CC=c.329-10delT;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.329-10delT;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.329-10delT;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.329-10delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CT,C:39:30:0:5:34,5:1041,141:0.00,10.01:0.00,2.60:0.00,7.41:0.00,0.77:0.00,0.95:0.00,0.90:60,60:19.0,42.4:1,0:0,0:27,17:113,134:18,12:-,NM_020909.3(EPB41L5) c.329-21delT:-,NOT_FOUND:-,NOT_FOUND 2 120831755 . G . . NT END=120833051;NT GT ./. 2 120832859 rs1713084 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.003395,A/0.9966;NP=1172;PC=0.011;Gene=EPB41L5/NM_001184939.1/0;CC=c.408-193G>A;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.408-193G>A;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.408-193G>A;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.408-193G>A;VC=Intron;DM=EPB41L5/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:34.5:0:0:63:87:22:NM_020909.3(EPB41L5) c.408-193G>A,NM_020909.3(EPB41L5) c.408-193G>A:1,1:NOT_FOUND,NOT_FOUND 2 120833097 . G . . NT END=120833276;NT GT ./. 2 120833330 . G . . NT END=120834546;NT GT ./. 2 120834668 . G . . NT END=120834804;NT GT ./. 2 120834893 . G . . NT END=120836068;NT GT ./. 2 120836158 . G . . NT END=120844746;NT GT ./. 2 120844665 rs183712193 G A 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3;Gene=EPB41L5/NM_001184939.1/0;CC=c.804-82G>A;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.804-82G>A;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.804-82G>A;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.804-82G>A;VC=Intron;DM=EPB41L5/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,G:14:12:0:0:4,10:124,331:10.67,0.00:8.53,0.00:2.14,0.00:0.77,0.00:0.96,0.00:0.74,0.00:60,60:31.0,10.5:0,0:0,0:37,47:111,104:29,31:NM_020909.3(EPB41L5) c.804-82G>A,-:0.0009,-:NOT_FOUND,- 2 120844817 . G . . NT END=120847922;NT GT ./. 2 120848093 . G . . NT END=120849130;NT GT ./. 2 120849238 . G . . NT END=120850824;NT GT ./. 2 120850853 . G . . NT END=120857819;NT GT ./. 2 120851010 rs1599893 G T 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.008586,T/0.9914;NP=2994;PC=0.006;Gene=EPB41L5/NM_001184939.1/0;CC=c.1178+158G>T;VC=Intron;Gene=EPB41L5/NM_001184937.1/0;CC=c.1178+158G>T;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1178+158G>T;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.1178+158G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:289:33.19:0.00:33.19:1.00:0.00:1.00:60:38.1:0:0:99:50:13:NM_020909.3(EPB41L5) c.1178+158G>T,NM_020909.3(EPB41L5) c.1178+158G>T:1,1:NOT_FOUND,NOT_FOUND 2 120857863 . G . . NT END=120858274;NT GT ./. 2 120858391 . G . . NT END=120861635;NT GT ./. 2 120862453 rs12603 G T 70 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.4097,T/0.5903;PC=0.007;Gene=EPB41L5/NM_001184939.1/0;CC=c.*637G>T;VC=3UTR;Gene=EPB41L5/NM_001184937.1/0;CC=c.1337+4063G>T;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1337+4063G>T;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.*637G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:56:33:0:0:32,24:988,755:0.00,70.35:0.00,34.03:0.00,36.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,36.1:0,0:0,0:72,56:78,94:39,32:-,NM_020909.3(EPB41L5) c.1337+4063G>T:-,0.63:-,NOT_FOUND 2 120863069 rs2121263 A G 118 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.4203,G/0.5797;PC=0.001;Gene=EPB41L5/NM_001184939.1/0;CC=c.*1253A>G;VC=3UTR;Gene=EPB41L5/NM_001184937.1/0;CC=c.1337+4679A>G;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1337+4679A>G;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.*1253A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:49:0:0:27,35:869,1200:0.00,118.26:0.00,66.64:0.00,51.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,40.1:0,0:0,0:75,76:75,75:33,39:-,NM_020909.3(EPB41L5) c.1337+4679A>G:-,0.63:-,NOT_FOUND 2 120863626 rs1900235 T C 100 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.4109,C/0.5891;PC=0.016;Gene=EPB41L5/NM_001184939.1/0;CC=c.*1810T>C;VC=3UTR;Gene=EPB41L5/NM_001184937.1/0;CC=c.1337+5236T>C;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1337+5236T>C;VC=Intron;Gene=EPB41L5/NM_001184938.1/0;CC=c.*1810T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:39:0:0:31,31:1043,966:100.41,0.00:49.84,0.00:50.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,9.3:0,0:0,0:62,65:89,85:39,41:NM_020909.3(EPB41L5) c.1337+5236T>C,-:0.63,-:NOT_FOUND,- 2 120864493 . C . . NT END=120885263;NT GT ./. 2 120885310 rs1034489 G A 48 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.4093,A/0.5907;PC=0.962;Gene=EPB41L5/NM_001184937.1/0;CC=c.1384G>A;ProtCh=p.A462T;VC=Missense;Gene=EPB41L5/NM_020909.3/1;CC=c.1384G>A;ProtCh=p.A462T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:38:0:0:17,33:543,1109:48.49,0.00:38.26,0.00:10.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,7.3:0,0:0,0:49,79:102,71:28,39:NM_020909.3(EPB41L5) c.1384G>A (p.Ala462Thr),-:0.64,-:0.628095,- 2 120885428 . G . . NT END=120889193;NT GT ./. 2 120889173 rs3738968 G C 80 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4091,C/0.5909;PC=0.001;Gene=EPB41L5/NM_001184937.1/0;CC=c.1502-21G>C;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1502-21G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:38:28:0:0:25,13:788,440:80.08,0.00:49.35,0.00:30.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:43.4,14.8:3,0:0,0:42,50:95,101:25,29:NM_020909.3(EPB41L5) c.1502-21G>C,-:0.64,-:NOT_FOUND,- 2 120889292 . G . . NT END=120900578;NT GT ./. 2 120900405 rs11123544 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4669,A/0.5331;PC=0.034;Gene=EPB41L5/NM_001184937.1/0;CC=c.1600-174G>A;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1600-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:A,G:9:9:0:0:4,5:131,162:12.32,0.00:12.32,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:32.8,0.0:0,0:0,0:33,56:117,94:16,35:NM_020909.3(EPB41L5) c.1600-174G>A,-:0.58,-:NOT_FOUND,- 2 120900708 . G . . NT END=120903800;NT GT ./. 2 120900736 rs75582263 T C 56 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6999,C/0.3001;PC=0.028;Gene=EPB41L5/NM_001184937.1/0;CC=c.1728+29T>C;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1728+29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:18:0:0:20,17:581,535:56.43,0.00:28.46,0.00:27.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,3.9:0,0:0,0:95,82:56,68:23,15:NM_020909.3(EPB41L5) c.1728+29T>C,-:0.28,-:0.235425,- 2 120903866 . G . . NT END=120918456;NT GT ./. 2 120918551 . G . . NT END=120922411;NT GT ./. 2 120918585 rs12617570 A C 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.4075,C/0.5925;Gene=EPB41L5/NM_001184937.1/0;CC=c.1887+35A>C;VC=Intron;Gene=EPB41L5/NM_020909.3/1;CC=c.1887+35A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:7:0:0:15,16:475,557:0.00,54.01:0.00,6.45:0.00,47.56:0.00,1.00:0.00,0.99:0.00,1.00:60,60:3.0,34.9:0,0:0,0:119,116:32,30:21,17:-,NM_020909.3(EPB41L5) c.1887+35A>C:-,0.64:-,0.628249 2 120922487 . G . . NT END=120925041;NT GT ./. 2 120925084 . G . . NT END=120925452;NT GT ./. 2 120925584 . G . . NT END=120932416;NT GT ./. 2 120932484 . G . . NT END=120979499;NT GT ./. 2 120979322 rs9644 T C 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2722,C/0.7278;Gene=TMEM185B/NM_024121.2/1;CC=c.*178A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:15:15:0:0:3,12:83,329:6.49,0.00:6.49,0.00:0.00,0.00:0.55,0.00:0.55,0.00:0.00,0.00:60,60:32.0,23.0:0,0:0,0:63,55:88,90:22,25:NM_024121.2(TMEM185B) c.*178A>G,-:0.75,-:NOT_FOUND,- 2 120980428 rs11550347 G C 210 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=159;DB;DBA=NA;PAF=G/0.4323,C/0.5677;PC=1.000;Gene=TMEM185B/NM_024121.2/1;CC=c.125C>G;ProtCh=p.A42G;VC=Missense;DM=TMEM185B/Tmemb_185A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:159:97:0:0:70,88,1:2241,2886,11:210.31,0.00,-0.15:96.87,0.00,-0.02:113.44,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.7,11.9,34.0:0,0,0:0,0,0:78,62,122:72,80,29:32,33,0:NM_024121.2(TMEM185B) c.125C>G (p.Ala42Gly),-:0.61,-:NOT_FOUND,- 2 120980553 . G . . NT END=120997682;NT GT ./. 2 120997702 . G . . NT END=121010413;NT GT ./. 2 121010557 . G . . NT END=121010957;NT GT ./. 2 121011308 . G . . NT END=121036190;NT GT ./. 2 121036355 . G . . NT END=121043449;NT GT ./. 2 121043659 . G . . NT END=121047155;NT GT ./. 2 121047334 . G . . NT END=121050716;NT GT ./. 2 121050837 . G . . NT END=121103764;NT GT ./. 2 121104213 . G . . NT END=121106674;NT GT ./. 2 121107451 . C . . NT END=121554896;NT GT ./. 2 121124517 rs6542591 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7578,T/0.2422;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:3:0:0:3,2:100,69:0.00,6.39:0.00,1.46:0.00,4.94:0.00,0.46:0.00,0.80:0.00,0.87:60,60:23.3,34.5:0,0:0,0:46,77:105,73:20,51:-,chr2 g.121124516C>T (intergenic):-,0.3:-,NOT_FOUND 2 121173037 rs73949128 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T:11:8:0:0:8,3:249,91:0.00,7.74:0.00,3.77:0.00,3.97:0.00,0.60:0.00,0.89:0.00,0.89:60,70:26.0,63.7:0,0:0,0:107,139:35,7:24,9:-,chr2 g.121173036C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 121363325 rs71396094 G GCA 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4836,GCA/0.5164,GCACA/.,GCACACA/.;NP=179;NP=2;NP=3;PC=0.001;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,GCA:4:4:3:0:1,3:34,92:0.00,9.65:0.00,8.03:0.00,1.63:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,8.3:0,0:0,0:121,75:30,76:0,8:-,chr2 g.121363325_121363326insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 121438102 rs71887512 GCGCGCGCA G 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GCGCGCGCA/0.07188,G/0.9281;NP=148;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:4:4:113:13.18:5.77:7.41:1.00:1.00:1.00:60:6.8:0:0:65:48:22:chr2 g.121438103_121438110delCGCGCGCA (intergenic),chr2 g.121438103_121438110delCGCGCGCA (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 2 121438115 rs56965425 C T 16 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1264,T/0.8736;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:137:15.61:3.93:11.68:1.00:1.00:1.00:60:31.5:4:0:49:85:17:chr2 g.121438114C>T (intergenic),chr2 g.121438114C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 121526375 rs5833852 C CTGTG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=20;NP=25;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CTGTG:5:4:4:0:2,3:65,132:0.00,9.83:0.00,5.16:0.00,4.66:0.00,0.73:0.00,0.51:0.00,0.96:60,60:0.0,0.0:0,1:0,0:75,38:75,103:13,20:-,chr2 g.121526375_121526376insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 121555046 . T . . NT END=121684936;NT GT ./. 2 121654272 . TAC C,T 10 nt VT=DEL;SST=Single;DP=5;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:C,TAC,T:5:2:0:4:1,1,3:36,32,94:3.28,0.00,9.77:1.69,0.00,3.45:1.59,0.00,6.31:0.00,0.00,0.78:0.00,0.00,0.87:0.00,0.00,0.97:60,60,60:109.0,0.0,33.0:0,0,0:0,0,0:35,125,25:66,26,126:0,0,4:NM_005270.4(GLI2) c.149-30665_149-30664delTA,NM_005270.4(GLI2) c.149-30664_149-30663delAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 121685043 . G . . NT END=121708818;NT GT ./. 2 121708584 rs11122836 C T 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2129,T/0.7871;Gene=GLI2/NM_005270.4/1;CC=c.255-235C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:128:14.71:14.71:0.00:1.00:1.00:0.00:60:70.5:0:0:20:130:6:NM_005270.4(GLI2) c.255-235C>T,NM_005270.4(GLI2) c.255-235C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 121708663 rs10864866 A G 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2129,G/0.7871;Gene=GLI2/NM_005270.4/1;CC=c.255-156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:15:0:0:15:433:50.28:50.28:0.00:1.00:1.00:0.00:60:47.8:0:0:48:103:26:NM_005270.4(GLI2) c.255-156A>G,NM_005270.4(GLI2) c.255-156A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 121709022 . G . . NT END=121712820;NT GT ./. 2 121709091 rs11681136 G A 58 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.0613,A/0.9387;Gene=GLI2/NM_005270.4/1;CC=c.457+70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:1:0:0:18:499:58.41:3.78:54.63:1.00:1.00:1.00:60:45.8:0:0:125:12:16:NM_005270.4(GLI2) c.457+70G>A,NM_005270.4(GLI2) c.457+70G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 121712729 rs10175446 C T 21 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2939,T/0.7061;NP=346;PC=0.002;Gene=GLI2/NM_005270.4/1;CC=c.458-92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:5:6:177:20.54:20.54:0.00:1.00:1.00:0.00:60:37.2:0:0:133:18:9:NM_005270.4(GLI2) c.458-92C>T,NM_005270.4(GLI2) c.458-92C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 121713007 . G . . NT END=121726289;NT GT ./. 2 121713022 rs6718382 C G 155 nt VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=2015;Gene=GLI2/NM_005270.4/1;CC=c.643+16C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:25:0:1:43:1345:154.90:62.55:92.36:1.00:1.00:1.00:60:92.7:0:0:95:50:24:NM_005270.4(GLI2) c.643+16C>G,NM_005270.4(GLI2) c.643+16C>G:1,1:NOT_FOUND,NOT_FOUND 2 121713030 rs12614482 G A 150 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.2141,A/0.7859;PC=0.001;Gene=GLI2/NM_005270.4/1;CC=c.643+24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:24:0:0:42:1300:149.93:58.38:91.55:1.00:1.00:1.00:60:93.7:0:0:103:40:23:NM_005270.4(GLI2) c.643+24G>A,NM_005270.4(GLI2) c.643+24G>A:0.82,0.82:0.754131,0.754131 2 121713041 rs12617878 T C 129 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.2141,C/0.7859;Gene=GLI2/NM_005270.4/1;CC=c.643+35T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:18:0:0:36:1123:129.37:46.31:83.06:1.00:1.00:1.00:60:99.9:0:0:103:48:25:NM_005270.4(GLI2) c.643+35T>C,NM_005270.4(GLI2) c.643+35T>C:0.82,0.82:0.755771,0.755771 2 121713203 rs13010895 G A 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.2127,A/0.7873;Gene=GLI2/NM_005270.4/1;CC=c.643+197G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:236:28.19:0.00:28.19:1.00:0.00:1.00:60:37.2:0:0:102:48:35:NM_005270.4(GLI2) c.643+197G>A,NM_005270.4(GLI2) c.643+197G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 121726253 . A C 7 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;Gene=GLI2/NM_005270.4/1;CC=c.644-37A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,C:55:50:0:0:46,9:1298,128:0.00,6.64:0.00,7.04:0.00,-0.40:0.00,0.98:0.00,1.00:0.00,0.92:60,60:32.4,85.4:0,0:0,0:26,69:119,79:18,27:-,NM_005270.4(GLI2) c.644-37A>C:-,NOT_FOUND:-,NOT_FOUND 2 121726447 rs2592595 G A 355 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.1727,A/0.8273;Gene=GLI2/NM_005270.4/1;CC=c.801G>A;ProtCh=p.S267=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:93:51:0:0:93:3104:354.71:132.80:221.91:1.00:1.00:1.00:60:42.8:0:0:84:64:33:NM_005270.4(GLI2) c.801G>A (p.(=)),NM_005270.4(GLI2) c.801G>A (p.(=)):0.85,0.85:0.809242,0.809242 2 121726492 . G . . NT END=121727968;NT GT ./. 2 121727753 rs6728598 A G 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1729,G/0.8271;Gene=GLI2/NM_005270.4/1;CC=c.846-216A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:129:15.22:15.22:0.00:1.00:1.00:0.00:60:96.8:0:0:71:79:49:NM_005270.4(GLI2) c.846-216A>G,NM_005270.4(GLI2) c.846-216A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 121727842 rs1867906 G A 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.08287,A/0.9171;Gene=GLI2/NM_005270.4/1;CC=c.846-127G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:20:0:0:20:653:74.84:74.84:0.00:1.00:1.00:0.00:60:59.0:0:0:30:111:24:NM_005270.4(GLI2) c.846-127G>A,NM_005270.4(GLI2) c.846-127G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 121728184 . T . . NT END=121729516;NT GT ./. 2 121729323 rs2677507 A G 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2218,G/0.7782;Gene=GLI2/NM_005270.4/1;CC=c.1060-194A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:15:15:0:0:15:353:42.02:42.02:0.00:1.00:1.00:0.00:60:68.9:0:0:71:79:30:NM_005270.4(GLI2) c.1060-194A>G,NM_005270.4(GLI2) c.1060-194A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 121729360 rs2592592 T C 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.1236,C/0.8764;Gene=GLI2/NM_005270.4/1;CC=c.1060-157T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:A,C:17:17:0:0:1,16:13,445:0.63,51.62:0.63,51.62:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:43.0,75.5:0,0:0,0:67,63:84,86:0,46:NM_005270.4(GLI2) c.1060-157T>C,NM_005270.4(GLI2) c.1060-157T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 2 121729490 rs2592591 C T 293 nt VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.1234,T/0.8766;PC=0.007;Gene=GLI2/NM_005270.4/1;CC=c.1060-27C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:82:71:0:0:82:2547:293.50:220.53:72.97:1.00:1.00:1.00:60:41.6:0:0:54:95:29:NM_005270.4(GLI2) c.1060-27C>T,NM_005270.4(GLI2) c.1060-27C>T:0.9,0.9:0.869445,0.869445 2 121729641 . T . . NT END=121732499;NT GT ./. 2 121729686 rs2592590 T C 341 nt VT=SNV;PN=C;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.123,C/0.877;Gene=GLI2/NM_005270.4/1;CC=c.1182+47T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:91:39:0:0:1,90:11,2986:0.14,340.99:0.00,95.37:0.14,245.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.0,37.3:0,0:0,0:10,95:130,47:0,34:NM_005270.4(GLI2) c.1182+47T>C,NM_005270.4(GLI2) c.1182+47T>C:0.9,0.9:0.869749,0.869749 2 121729850 rs2677506 A G 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1234,G/0.8766;PC=0.002;Gene=GLI2/NM_005270.4/1;CC=c.1182+211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:347:39.94:0.00:39.94:1.00:0.00:1.00:60:61.6:0:0:59:92:21:NM_005270.4(GLI2) c.1182+211A>G,NM_005270.4(GLI2) c.1182+211A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 121729931 rs2592589 G C 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=GLI2/NM_005270.4/1;CC=c.1182+292G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:246:28.41:0.00:28.41:1.00:0.00:1.00:60:77.1:0:0:120:31:18:NM_005270.4(GLI2) c.1182+292G>C,NM_005270.4(GLI2) c.1182+292G>C:0.9,0.9:NOT_FOUND,NOT_FOUND 2 121732355 rs71740593 AGT A 61 idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=719;PC=0.026;Gene=GLI2/NM_005270.4/1;CC=c.1183-122_1183-121delGT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGT,A:38:41:0:23:18,20:507,700:0.00,60.51:0.00,60.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.3,12.6:0,3:0,0:24,37:126,114:16,22:-,NM_005270.4(GLI2) c.1183-144_1183-143delGT:-,NOT_FOUND:-,NOT_FOUND 2 121732687 . T . . NT END=121736009;NT GT ./. 2 121733013 rs72382377 AT A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AT/0.6068,A/0.3932;NP=362;Gene=GLI2/NM_005270.4/1;CC=c.1368+338delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AT,A:4:1:0:2:2,2:66,66:0.00,6.35:0.00,1.74:0.00,4.61:0.00,0.51:0.00,0.67:0.00,0.51:60,60:0.0,36.0:0,0:0,0:136,88:15,61:1,5:-,NM_005270.4(GLI2) c.1368+329delT:-,NOT_FOUND:-,NOT_FOUND 2 121736161 . T . . NT END=121740291;NT GT ./. 2 121740190 rs1968619 C T 191 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.06829,T/0.9317;Gene=GLI2/NM_005270.4/1;CC=c.1519-102C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:T:55:55:0:0:55:1653:191.28:180.70:10.58:1.00:1.00:1.00:60:70.4:0:0:48:103:31:NM_005270.4(GLI2) c.1519-102C>T,NM_005270.4(GLI2) c.1519-102C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 2 121740194 rs1530580 T G 201 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.005591,G/0.9944;NP=3367;Gene=GLI2/NM_005270.4/1;CC=c.1519-98T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:G:56:55:0:0:56:1740:200.57:185.31:15.26:1.00:1.00:1.00:60:69.4:0:0:48:103:30:NM_005270.4(GLI2) c.1519-98T>G,NM_005270.4(GLI2) c.1519-98T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 121740458 . T . . NT END=121742046;NT GT ./. 2 121740505 rs280196 C T 270 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.2202,T/0.7798;Gene=GLI2/NM_005270.4/1;CC=c.1683+49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:75:30:0:0:75:2347:270.22:73.39:196.82:1.00:1.00:1.00:60:44.8:0:0:104:44:25:NM_005270.4(GLI2) c.1683+49C>T,NM_005270.4(GLI2) c.1683+49C>T:0.82,0.82:0.771798,0.771798 2 121740609 rs67863160 CTT C 8 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CTT/0.401,C/0.599;DB;DBA=NA;PAF=CTT/0.401,C/0.599;NP=897;Gene=GLI2/NM_005270.4/1;CC=c.1683+155_1683+156delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:CTT,C:19:0:0:3:16,3:511,97:0.00,7.54:0.00,0.00:0.00,7.54:0.00,0.51:0.00,0.00:0.00,0.51:60,60:37.2,10.7:0,0:0,0:97,102:52,49:39,23:-,NM_005270.4(GLI2) c.1683+154_1683+155delTT:-,0.61:-,NOT_FOUND 2 121741475 rs4550670 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4645,A/0.5355;Gene=GLI2/NM_005270.4/1;CC=c.1684-572G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:2:0:0:3,1:93,36:9.75,0.00:2.95,0.00:6.80,0.00:0.85,0.00:0.95,0.00:0.95,0.00:60,60:60.7,20.0:0,0:0,0:45,46:106,105:2,0:NM_005270.4(GLI2) c.1684-572G>A,-:0.58,-:NOT_FOUND,- 2 121741522 rs5833859 GGT G 10 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GGT/0.2662,G/0.7338;DB;DBA=NA;PAF=GGT/0.2662,G/0.7338;DB;DBA=NA;PAF=GGT/0.2662,G/0.7338;NP=175;PC=0.001;Gene=GLI2/NM_005270.4/1;CC=c.1684-493_1684-492delTG;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:GGT,T,G:7:6:0:4:2,2,3:67,51,128:0.00,4.60,9.55:0.00,3.78,2.94:0.00,0.83,6.60:0.00,0.00,0.67:0.00,0.00,0.93:0.00,0.00,0.85:60,60,60:49.5,56.0,60.7:0,0,1:0,0,0:67,29,91:74,82,59:28,3,7:-,NM_005270.4(GLI2) c.1684-524_1684-523delGT:-,NOT_FOUND:-,NOT_FOUND 2 121741762 rs280198 G A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6162,A/0.3838;PC=0.002;Gene=GLI2/NM_005270.4/1;CC=c.1684-285G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:9:8:0:0:4,5:107,159:9.90,0.00:6.47,0.00:3.42,0.00:0.85,0.00:0.98,0.00:0.63,0.00:60,60:50.8,48.6:0,0:0,0:52,50:98,101:8,25:NM_005270.4(GLI2) c.1684-285G>A,-:0.36,-:NOT_FOUND,- 2 121741811 rs3820720 C T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4914,T/0.5086;Gene=GLI2/NM_005270.4/1;CC=c.1684-236C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:12:11:0:0:5,7:120,209:0.00,20.70:0.00,21.08:0.00,-0.38:0.00,0.99:0.00,1.00:0.00,0.72:60,60:40.6,62.0:0,0:0,0:100,53:51,97:17,38:-,NM_005270.4(GLI2) c.1684-236C>T:-,0.56:-,NOT_FOUND 2 121741843 rs3820719 A G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4896,G/0.5104;PC=0.001;Gene=GLI2/NM_005270.4/1;CC=c.1684-204A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:14:0:0:8,7:255,203:0.00,19.13:0.00,19.40:0.00,-0.27:0.00,0.99:0.00,1.00:0.00,0.64:60,60:16.6,73.1:0,0:0,0:54,79:96,71:43,32:-,NM_005270.4(GLI2) c.1684-204A>G:-,0.56:-,NOT_FOUND 2 121742321 . T . . NT END=121743853;NT GT ./. 2 121744192 . T . . NT END=121745783;NT GT ./. 2 121744225 rs2276553 A G 94 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.4804,G/0.5196;PC=0.005;Gene=GLI2/NM_005270.4/1;CC=c.2293+35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:20:0:0:30,30:922,977:0.00,93.89:0.00,16.32:0.00,77.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,39.2:0,0:0,0:96,117:50,33:32,23:-,NM_005270.4(GLI2) c.2293+35A>G:-,0.57:-,0.629806 2 121746956 rs3738880 G T 356 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=208;DB;DBA=in-clinvar;PAF=G/0.491,T/0.509;Gene=GLI2/NM_005270.4/1;CC=c.3466G>T;ProtCh=p.A1156S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:208:145:0:0:1,95,112:9,3105,3643:-0.17,0.00,355.65:-0.11,0.00,212.50:-0.06,0.00,143.15:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:66.0,8.8,40.3:0,0,0:0,0,0:99,63,78:50,86,72:0,34,38:-,NM_005270.4(GLI2) c.3466G>T (p.Ala1156Ser):-,0.56:-,0.623409 2 121747406 rs12711538 G A 274 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=179;DB;DBA=in-clinvar;PAF=G/0.4329,A/0.5671;PC=0.006;Gene=GLI2/NM_005270.4/1;CC=c.3916G>A;ProtCh=p.D1306N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:179:123:0:0:89,1,89:2852,11,2826:274.01,-0.15,0.00:131.95,-0.06,0.00:142.05,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:87.8,182.0,11.0:0,0,0:0,0,0:76,69,67:74,82,80:35,0,36:NM_005270.4(GLI2) c.3916G>A (p.Asp1306Asn),-:0.59,-:0.676873,- 2 121747429 rs10167980 A G 263 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=179;DB;DBA=in-clinvar;PAF=A/0.4876,G/0.5124;Gene=GLI2/NM_005270.4/1;CC=c.3939A>G;ProtCh=p.P1313=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:179:127:0:0:89,1,89:2797,12,2741:0.00,-0.13,262.90:0.00,-0.03,134.36:0.00,-0.10,128.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.2,54.0,93.4:0,0,0:0,0,0:71,110,64:70,41,83:39,0,37:-,NM_005270.4(GLI2) c.3939A>G (p.(=)):-,0.56:-,0.624077 2 121747433 rs114376238 C T 263 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=178;DB;DBA=in-clinvar;PAF=C/0.99,T/0.009984;Gene=GLI2/NM_005270.4/1;CC=c.3943C>T;ProtCh=p.P1315S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:178:126:0:0:1,89,88:9,2844,2741:-0.18,0.00,262.77:-0.13,0.00,141.66:-0.05,0.00,121.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:157.0,9.7,91.8:0,0,0:0,0,0:92,73,74:59,73,76:0,41,39:-,NM_005270.4(GLI2) c.3943C>T (p.Pro1315Ser):-,0.01:-,0.01884 2 121748252 . A . . NT END=121981916;NT GT ./. 2 121768352 rs775782 G C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6641,C/0.3359;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:C,G:9:3:0:0:4,5:136,170:12.82,0.00:5.26,0.00:7.56,0.00:0.85,0.00:0.84,0.00:0.98,0.00:60,60:34.0,1.4:0,0:0,0:77,127:73,23:39,15:chr2 g.121768351G>C (intergenic),-:0.31,-:NOT_FOUND,- 2 121981950 rs11890430 A G 78 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.6362,G/0.3638;PC=0.759;Gene=TFCP2L1/NM_014553.2/1;CC=c.1407T>C;ProtCh=p.D469=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:71:51:0:0:44,27:1476,861:0.00,78.49:0.00,31.92:0.00,46.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.7,33.1:0,0:0,0:72,48:75,103:32,34:-,NM_014553.2(TFCP2L1) c.1407T>C (p.(=)):-,0.32:-,0.33423 2 121981964 . C . . NT END=121983137;NT GT ./. 2 121982011 rs4384798 T A 121 nt VT=SNV;PN=G;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.6703,A/0.3297;Gene=TFCP2L1/NM_014553.2/1;CC=c.1394-48A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:61:34:0:0:36,1,24:1216,7,754:121.25,-0.10,0.00:51.07,-0.04,0.00:70.18,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.8,66.0,21.8:0,0,0:0,0,0:93,35,76:57,116,71:28,0,28:NM_014553.2(TFCP2L1) c.1394-48A>T,-:0.36,-:0.412104,- 2 121983190 . C . . NT END=121989401;NT GT ./. 2 121989489 rs2304667 G A 208 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.6801,A/0.3199,T/.;PC=0.090;Gene=TFCP2L1/NM_014553.2/1;CC=c.1254C>T;ProtCh=p.I418=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:129:80:0:0:68,1,60:2142,25,1877:208.23,0.72,0.00:80.88,-0.11,0.00:127.35,0.83,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.4,43.0,5.3:0,0,0:0,0,0:94,63,83:48,88,58:27,0,30:NM_014553.2(TFCP2L1) c.1254C>T (p.(=)),-:0.35,-:0.400584,- 2 121989545 . C . . NT END=121991666;NT GT ./. 2 121989683 rs143081791 TTTTTG T 28 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;PC=0.981;Gene=TFCP2L1/NM_014553.2/1;CC=c.1199-144_1199-140delCAAAA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTTTG,T:31:1:0:14:21,10:655,449:0.00,27.96:0.00,1.67:0.00,26.29:0.00,1.00:0.00,0.52:0.00,1.00:60,60:12.3,18.8:0,4:0,0:124,62:27,89:17,9:-,NM_014553.2(TFCP2L1) c.1199-144_1199-140delCAAAA:-,NOT_FOUND:-,NOT_FOUND 2 121989808 rs2953081 A G 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3642,G/0.6358;Gene=TFCP2L1/NM_014553.2/1;CC=c.1199-264T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G,T:5:0:0:0:2,2,1:71,66,11:0.00,6.31,0.70:0.00,0.00,0.00:0.00,6.31,0.70:0.00,0.46,0.00:0.00,0.00,0.00:0.00,0.46,0.00:60,60,60:0.0,49.0,157.0:0,0,0:0,0,0:118,102,121:32,48,23:16,43,0:-,NM_014553.2(TFCP2L1) c.1199-264T>C:-,0.68:-,NOT_FOUND 2 121991771 . C . . NT END=121992796;NT GT ./. 2 121992888 . C . . NT END=121995198;NT GT ./. 2 121995293 . C . . NT END=121995377;NT GT ./. 2 121995427 . C . . NT END=121997133;NT GT ./. 2 121997226 . C . . NT END=121997659;NT GT ./. 2 121997698 rs750416 T C 181 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.5555,C/0.4445;Gene=TFCP2L1/NM_014553.2/1;CC=c.769-473A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:117:98:0:0:58,59:1885,1859:180.97,0.00:127.02,0.00:53.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,14.7:0,0:0,0:66,68:84,82:35,39:NM_014553.2(TFCP2L1) c.769-473A>G,-:0.47,-:NOT_FOUND,- 2 121998265 . C . . NT END=121999934;NT GT ./. 2 122000046 . C . . NT END=122004393;NT GT ./. 2 122004547 . C . . NT END=122005739;NT GT ./. 2 122005847 . C . . NT END=122006557;NT GT ./. 2 122006664 . C . . NT END=122007146;NT GT ./. 2 122007224 . C . . NT END=122038695;NT GT ./. 2 122007378 rs2119021 A C 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5865,C/0.4135;Gene=TFCP2L1/NM_014553.2/1;CC=c.215-155T>G;VC=Intron;DM=TFCP2L1/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,C:12:0:0:0:8,4:235,118:0.00,10.39:0.00,0.00:0.00,10.39:0.00,0.80:0.00,0.00:0.00,0.80:60,60:5.1,39.8:0,0:0,0:87,105:63,46:28,17:-,NM_014553.2(TFCP2L1) c.215-155T>G:-,0.43:-,NOT_FOUND 2 122038848 . C . . NT END=122042623;NT GT ./. 2 122042686 . G . . NT END=122098436;NT GT ./. 2 122042750 rs13415738 A T 85 nt VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.5224,T/0.4776;Gene=TFCP2L1/NM_014553.2/1;CC=c.-65T>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:65:35:0:0:36,29:1088,902:0.00,84.62:0.00,31.50:0.00,53.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,36.9:0,0:0,0:105,95:40,55:20,21:-,NM_014553.2(TFCP2L1) c.-65T>A:-,0.48:-,0.428383 2 122098524 . C . . NT END=122104613;NT GT ./. 2 122104731 . C . . NT END=122106087;NT GT ./. 2 122106295 . C . . NT END=122120747;NT GT ./. 2 122120877 . C . . NT END=122122669;NT GT ./. 2 122121173 rs77335316 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9479,C/0.05212;Gene=CLASP1/NM_001142273.1/1;CC=c.3901-297A>G;VC=Intron;Gene=CLASP1/NM_001142274.1/0;CC=c.3877-297A>G;VC=Intron;Gene=CLASP1/NM_001207051.1/0;CC=c.3895-297A>G;VC=Intron;Gene=CLASP1/NM_015282.2/0;CC=c.4078-297A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:5:0:0:0:3,2:72,63:7.17,0.00:0.00,0.00:7.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:89.3,20.5:0,0:0,0:57,109:94,41:14,18:NM_015282.2(CLASP1) c.4078-297A>G,-:0.06,-:NOT_FOUND,- 2 122122861 . C . . NT END=122125163;NT GT ./. 2 122125408 . C . . NT END=122135074;NT GT ./. 2 122135226 . C . . NT END=122139783;NT GT ./. 2 122139901 . C . . NT END=122144697;NT GT ./. 2 122144805 . C . . NT END=122145338;NT GT ./. 2 122145483 . C . . NT END=122154715;NT GT ./. 2 122154860 . C . . NT END=122155897;NT GT ./. 2 122155977 . C . . NT END=122159084;NT GT ./. 2 122159249 . C . . NT END=122161872;NT GT ./. 2 122161876 . T . . NT END=122161946;NT GT ./. 2 122162011 . C . . NT END=122165046;NT GT ./. 2 122165292 . C . . NT END=122166599;NT GT ./. 2 122166624 . C . . NT END=122168441;NT GT ./. 2 122168546 . C . . NT END=122176197;NT GT ./. 2 122176306 . C . . NT END=122182714;NT GT ./. 2 122182883 . C . . NT END=122184979;NT GT ./. 2 122185007 . C . . NT END=122187648;NT GT ./. 2 122187754 . C . . NT END=122202514;NT GT ./. 2 122187948 rs4848708 A G 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.002396,G/0.9976;NP=508;Gene=CLASP1/NM_001142273.1/1;CC=c.1937-195T>C;VC=Intron;Gene=CLASP1/NM_001142274.1/0;CC=c.1913-195T>C;VC=Intron;Gene=CLASP1/NM_001207051.1/0;CC=c.1961-195T>C;VC=Intron;Gene=CLASP1/NM_015282.2/0;CC=c.1913-195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:319:36.64:0.00:36.64:1.00:0.00:1.00:60:41.9:0:0:70:81:31:NM_015282.2(CLASP1) c.1913-195T>C,NM_015282.2(CLASP1) c.1913-195T>C:1,1:NOT_FOUND,NOT_FOUND 2 122202539 . C . . NT END=122203024;NT GT ./. 2 122203073 . C . . NT END=122204912;NT GT ./. 2 122205084 . C . . NT END=122205851;NT GT ./. 2 122205902 . C . . NT END=122206528;NT GT ./. 2 122206697 . C . . NT END=122208488;NT GT ./. 2 122208567 . C . . NT END=122209365;NT GT ./. 2 122209426 . C . . NT END=122215262;NT GT ./. 2 122215334 . C . . NT END=122216415;NT GT ./. 2 122216552 . C . . NT END=122217555;NT GT ./. 2 122217702 . C . . NT END=122218676;NT GT ./. 2 122218770 . C . . NT END=122220107;NT GT ./. 2 122220032 rs114715944 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9762,C/0.02376;Gene=CLASP1/NM_001142273.1/1;CC=c.939+76A>G;VC=Intron;Gene=CLASP1/NM_001142274.1/0;CC=c.939+76A>G;VC=Intron;Gene=CLASP1/NM_001207051.1/0;CC=c.939+76A>G;VC=Intron;Gene=CLASP1/NM_015282.2/0;CC=c.939+76A>G;VC=Intron;DM=CLASP1/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:13:0:0:6,7:207,236:19.67,0.00:17.93,0.00:1.74,0.00:0.97,0.00:0.97,0.00:0.76,0.00:60,60:34.5,2.0:0,0:0,0:34,62:117,89:20,40:NM_015282.2(CLASP1) c.939+76A>G,-:0.02,-:NOT_FOUND,- 2 122220182 . C . . NT END=122227383;NT GT ./. 2 122227537 . C . . NT END=122260742;NT GT ./. 2 122260811 . C . . NT END=122273240;NT GT ./. 2 122273339 . C . . NT END=122283420;NT GT ./. 2 122283497 . C . . NT END=122285374;NT GT ./. 2 122285467 . C . . NT END=122286252;NT GT ./. 2 122286357 . C . . NT END=122287822;NT GT ./. 2 122287902 . C . . NT END=122363276;NT GT ./. 2 122363472 . A . . NT END=122485299;NT GT ./. 2 122387957 . AAC A 11 sb,rn VT=DEL;SST=Single;DP=4;NP=5;PC=0.051;Gene=CLASP1/NM_001142273.1/1;CC=c.-286+18989_-286+18990delGT;VC=Intron;Gene=CLASP1/NM_001142274.1/0;CC=c.-286+18989_-286+18990delGT;VC=Intron;Gene=CLASP1/NM_001207051.1/0;CC=c.-286+18989_-286+18990delGT;VC=Intron;Gene=CLASP1/NM_015282.2/0;CC=c.-286+18989_-286+18990delGT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:3:0:4:3:127:10.66:1.78:8.88:0.85:0.99:0.85:60:11.7:1:0:46:75:20:NM_015282.2(CLASP1) c.-286+18989_-286+18990delGT,NM_015282.2(CLASP1) c.-286+18989_-286+18990delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 122418656 rs28601871 C A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.057;Gene=NIFK-AS1/NR_037857.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,C,I:6:3:1:0:3,2,1:86,67,28:8.52,0.00,2.34:1.64,0.00,1.21:6.89,0.00,1.13:0.73,0.00,0.00:0.89,0.00,0.00:0.73,0.00,0.00:60,60,60:39.7,41.0,0.0:0,0,0:0,0,0:54,94,86:57,47,23:1,25,0:NR_037857.1(LOC254128) n.943+10398C>A,-:0.2,-:NOT_FOUND,- 2 122466532 . G A 92 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;PC=0.645;Gene=NIFK-AS1/NR_037857.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:30:0:0:29,26:944,820:91.77,0.00:42.89,0.00:48.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,10.5:0,0:0,0:121,95:30,51:22,32:NR_037857.1(LOC254128) n.1083+3049G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 122485489 . C . . NT END=122485863;NT GT ./. 2 122485933 . C . . NT END=122486052;NT GT ./. 2 122486113 . C . . NT END=122488468;NT GT ./. 2 122488681 . C . . NT END=122489671;NT GT ./. 2 122489781 . C . . NT END=122493188;NT GT ./. 2 122493327 . C . . NT END=122494321;NT GT ./. 2 122494427 . G . . NT END=122513355;NT GT ./. 2 122507591 rs148094753 T TAC 27 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2885,TAC/0.7115,TACAC/.;NP=205;NP=33;PC=0.130;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:TAC:7:6:7:0:7:232:26.54:15.01:11.53:1.00:1.00:1.00:60:5.4:0:0:68:70:24:NM_004622.2(TSN) c.-235-u5530_-235-u5529insAC,NM_004622.2(TSN) c.-235-u5530_-235-u5529insAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 122513530 . G . . NT END=122514815;NT GT ./. 2 122515011 . G . . NT END=122516285;NT GT ./. 2 122515214 rs11122867 G T 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7714,T/0.2286;Gene=TSN/NM_001261401.1/0;CC=c.160+305G>T;VC=Intron;Gene=TSN/NM_004622.2/1;CC=c.160+305G>T;VC=Intron;Gene=TSN/NR_048556.1/0;VC=NonCoding;Gene=TSN/NR_048557.1/0;VC=NonCoding;Gene=TSN/NR_048558.1/0;VC=NonCoding;Gene=TSN/NR_048559.1/0;VC=NonCoding;DM=TSN/Translin;DM=TSN/Translin;DM=TSN/Translin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:241:27.44:0.00:27.44:1.00:0.00:1.00:60:36.9:0:0:128:22:12:NM_004622.2(TSN) c.160+305G>T,NM_004622.2(TSN) c.160+305G>T:0.27,0.27:NOT_FOUND,NOT_FOUND 2 122516383 . G . . NT END=122518984;NT GT ./. 2 122519101 . G . . NT END=122520580;NT GT ./. 2 122520661 . G . . NT END=122522709;NT GT ./. 2 122522944 . G . . NT END=124783227;NT GT ./. 2 122641085 rs62152431 A G,ATG 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7654,G/0.2346;NP=100;NP=2;NP=216;NP=4;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:65:G,ATG:5:4:2:0:3,2:101,67:10.86,6.86:3.70,5.12:7.16,1.74:0.78,0.00:0.97,0.00:0.97,0.00:60,60:99.0,5.0:0,0:0,0:19,48:106,102:3,11:chr2 g.122641084A>G (intergenic),chr2 g.122641085_122641086insTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 122671331 rs62154387 C CACACACAA 10 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.004;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,CACACACAA:4:3:3:0:1,3:27,100:0.00,10.45:0.00,9.18:0.00,1.28:0.00,0.85:0.00,0.99:0.00,0.95:60,70:10.0,0.0:0,0:0,0:17,34:131,115:0,1:-,chr2 g.122671331_122671332insACACACAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 123190563 . CTG C 7 rn VT=DEL;SST=Single;DP=6;NP=17;PC=0.050;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:CTG,G,C:5:3:0:3:2,1,2:70,35,104:0.00,3.04,6.65:0.00,-0.08,1.57:0.00,3.12,5.07:0.00,0.00,0.42:0.00,0.00,0.73:0.00,0.00,0.42:60,60,60:13.0,61.0,0.0:0,0,1:0,0,0:96,47,88:15,83,63:36,0,5:-,chr2 g.123190564_123190565delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 123246662 rs6146906 A AGTGTGTGTGTGTGT 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3285,AGTGT/.,AGTGTGTGTGTGT/0.6715,AGTGTGTGTGTGTGT/.,AGTGTGTGTGTGTGTGT/.;DB;DBA=NA;PAF=NA;NP=7;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,AGTGTGTGTGTGTGT:4:4:2:0:2,2:42,67:0.00,6.46:0.00,4.82:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,0.0:0,0:0,0:132,60:17,90:13,4:-,chr2 g.123246662_123246663insGTGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 123358873 rs62167004 A AGTGTGTGT 11 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=37;NP=6;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:AGTGTGTGT:3:5:6:0:3:204:10.93:8.89:2.04:0.73:0.96:0.73:60:47.0:3:0:38:82:17:chr2 g.123358873_123358874insGTGTGTGT (intergenic),chr2 g.123358873_123358874insGTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 123358926 rs6753885 T A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3962,A/0.6038 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:170:19.38:5.97:13.42:1.00:1.00:1.00:60:38.2:0:0:120:25:16:chr2 g.123358925T>A (intergenic),chr2 g.123358925T>A (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 2 123453005 rs70956379 A AGTGTGTGTGTGT 12 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=7;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AGTGTGTGTGTGT:5:2:4:0:1,4:35,108:0.00,11.57:0.00,7.36:0.00,4.21:0.00,0.96:0.00,0.97:0.00,0.99:60,60:34.0,6.0:0,0:0,0:109,32:23,118:0,12:-,chr2 g.123453005_123453006insGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 123666394 rs369676536 CTGTGTG C 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=31;PC=0.030;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:CTGTGTG,C:4:3:0:3:2,2:60,102:0.00,6.52:0.00,3.26:0.00,3.26:0.00,0.46:0.00,0.80:0.00,0.87:60,60:34.0,5.5:0,1:0,0:100,39:50,111:25,0:-,chr2 g.123666395_123666400delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 123842842 rs199937831 GTGTGTGTGTGTA G 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;PC=0.397;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GTGTGTGTGTGTA,G:5:2:0:4:1,4:35,132:0.00,14.02:0.00,3.43:0.00,10.59:0.00,0.96:0.00,0.97:0.00,1.00:60,60:11.0,33.8:0,0:0,0:144,74:7,76:0,20:-,chr2 g.123842843_123842854delTGTGTGTGTGTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 123842856 rs201384542 G A 15 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.308 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:1:4:131:15.01:3.78:11.23:1.00:1.00:1.00:60:33.8:4:0:76:74:20:chr2 g.123842855G>A (intergenic),chr2 g.123842855G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 123842874 rs2673195 G C 19 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5859,C/0.4141 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:171:19.48:1.99:17.50:1.00:1.00:1.00:60:34.2:0:0:81:70:27:chr2 g.123842873G>C (intergenic),chr2 g.123842873G>C (intergenic):0.38,0.38:NOT_FOUND,NOT_FOUND 2 123948813 rs79667948 C CGT 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2358,CGTGT/0.7642,CGTGTGT/.,CGTGTGTGTGT/.;DB;DBA=NA;PAF=C/0.2358,CGT/.,CGTGT/0.7642,CGTGTGT/.;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=11;NP=3;NP=38;NP=73;NP=8;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CGT,D:7:8:4:1:3,3,1:107,120,30:0.00,8.44,2.40:0.00,4.22,2.49:0.00,4.22,-0.09:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.93,0.00:60,60,60:0.0,28.3,46.0:0,1,0:0,0,0:118,21,3:30,93,148:21,11,0:-,chr2 g.123948813_123948814insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 123996690 rs77055500 ATGTGTGTG A 11 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=134;PC=0.070;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:3:0:4:3:136:11.26:1.88:9.38:0.85:0.99:0.85:70:0.0:1:0:83:51:13:chr2 g.123996691_123996698delTGTGTGTG (intergenic),chr2 g.123996691_123996698delTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 124783310 . G . . NT END=124979281;NT GT ./. 2 124979387 . G . . NT END=124999776;NT GT ./. 2 124999621 rs17011167 C G 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7823,G/0.2177;Gene=CNTNAP5/NM_130773.3/1;CC=c.188-156C>G;VC=Intron;DM=CNTNAP5/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,G:17:17:0:0:6,11:175,369:0.00,37.38:0.00,35.44:0.00,1.94:0.00,1.00:0.00,1.00:0.00,0.76:60,60:33.8,37.2:0,0:0,0:55,55:94,95:40,32:-,NM_130773.2(CNTNAP5) c.188-156C>G:-,0.21:-,NOT_FOUND 2 124999971 . G . . NT END=125175019;NT GT ./. 2 125000164 rs11347347 CG C 22 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CG/0.4389,C/0.5611;NP=242;PC=0.002;Gene=CNTNAP5/NM_130773.3/1;CC=c.381+195delG;VC=Intron;DM=CNTNAP5/F5_F8_type_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:CG,C:13:0:0:7:6,7:178,227:0.00,22.14:0.00,0.00:0.00,22.14:0.00,0.99:0.00,0.00:0.00,0.99:60,60:6.0,1.6:0,0:0,0:133,81:17,70:10,23:-,NM_130773.2(CNTNAP5) c.381+195delG:-,0.55:-,NOT_FOUND 2 125021958 rs70996056 CACACACAT C 20 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=94;Gene=CNTNAP5/NM_130773.3/1;CC=c.381+21996_381+22003delTACACACA;VC=Intron;DM=CNTNAP5/F5_F8_type_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,C:7:5:0:7:1,6:11,177:0.77,20.16:0.00,17.35:0.77,2.81:0.00,1.00:0.00,1.00:0.00,0.98:60,70:108.0,30.2:1,0:0,0:59,49:91,101:0,34:NM_130773.2(CNTNAP5) c.381+21989_381+21996delACACACAT,NM_130773.2(CNTNAP5) c.381+21989_381+21996delACACACAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 125021968 . C G 19 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;Gene=CNTNAP5/NM_130773.3/1;CC=c.381+21998C>G;VC=Intron;DM=CNTNAP5/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,G:8:6:0:0:2,6:44,179:0.00,18.84:0.00,17.86:0.00,0.98:0.00,1.00:0.00,1.00:0.00,0.99:60,70:30.5,41.2:2,5:0,0:63,56:76,94:3,34:-,NM_130773.2(CNTNAP5) c.381+21998C>G:-,NOT_FOUND:-,NOT_FOUND 2 125175168 . G . . NT END=125192060;NT GT ./. 2 125192068 rs1425745 T C 265 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.1757,C/0.8243;PC=0.004;Gene=CNTNAP5/NM_130773.3/1;CC=c.537T>C;ProtCh=p.D179=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:73:66:0:0:73:2303:264.83:214.04:50.80:1.00:1.00:1.00:60:38.3:0:0:49:94:32:NM_130773.2(CNTNAP5) c.537T>C (p.(=)),NM_130773.2(CNTNAP5) c.537T>C (p.(=)):0.85,0.85:0.888548,0.888548 2 125192265 . G . . NT END=125204329;NT GT ./. 2 125204192 rs61231472 A G 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.7696,G/0.2304;Gene=CNTNAP5/NM_130773.3/1;CC=c.734-138A>G;VC=Intron;DM=CNTNAP5/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:20:0:0:8,12:269,302:0.00,30.05:0.00,30.05:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.2,51.1:0,0:0,0:37,49:112,100:25,39:-,NM_130773.2(CNTNAP5) c.734-138A>G:-,0.22:-,NOT_FOUND 2 125204515 . G . . NT END=125232315;NT GT ./. 2 125204769 rs78640610 AT A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AT/0.5661,A/0.4339;DB;DBA=NA;PAF=AT/0.5661,A/0.4339;NP=26;Gene=CNTNAP5/NM_130773.3/1;CC=c.918+266delT;VC=Intron;DM=CNTNAP5/Laminin_G_2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:AT,A:5:0:0:2:3,2:74,68:0.00,6.30:0.00,0.00:0.00,6.30:0.00,0.46:0.00,0.00:0.00,0.46:60,60:0.0,0.0:0,0:0,0:132,85:19,65:7,16:-,NM_130773.2(CNTNAP5) c.918+256delT:-,NOT_FOUND:-,NOT_FOUND 2 125232457 . G . . NT END=125261868;NT GT ./. 2 125232609 rs4411700 G T 53 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2586,T/0.7414;Gene=CNTNAP5/NM_130773.3/1;CC=c.1059+153G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:1:0:0:14:459:52.58:1.84:50.74:1.00:1.00:1.00:60:34.6:0:0:105:44:32:NM_130773.2(CNTNAP5) c.1059+153G>T,NM_130773.2(CNTNAP5) c.1059+153G>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 125262134 . G . . NT END=125281879;NT GT ./. 2 125267925 . AACAC A 6 rn VT=DEL;SST=Single;DP=5;PC=0.009;Gene=CNTNAP5/NM_130773.3/1;CC=c.1324+5830_1324+5833delCACA;VC=Intron;DM=CNTNAP5/Laminin_G_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:AACAC,I,A:5:4:1:2:2,1,2:68,32,67:0.00,2.78,6.41:0.00,-0.19,4.68:0.00,2.98,1.74:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.70:60,60,60:46.5,22.0,41.0:0,0,0:0,0,0:69,65,53:81,86,98:38,0,19:-,NM_130773.2(CNTNAP5) c.1324+5793_1324+5796delACAC:-,NOT_FOUND:-,NOT_FOUND 2 125282030 . G . . NT END=125284861;NT GT ./. 2 125285034 . G . . NT END=125320793;NT GT ./. 2 125320901 . G . . NT END=125367377;NT GT ./. 2 125367498 . G . . NT END=125405334;NT GT ./. 2 125405302 rs924802 C T 171 nt VT=SNV;PN=A;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.6042,T/0.3958;Gene=CNTNAP5/NM_130773.3/1;CC=c.1874-33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:115:102:0:0:58,1,56:1901,11,1782:0.00,-0.11,170.59:0.00,-0.06,115.79:0.00,-0.05,54.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.6,79.0,41.1:0,0,0:0,0,0:53,12,34:96,137,111:25,0,26:-,NM_130773.2(CNTNAP5) c.1874-33C>T:-,0.44:-,0.521606 2 125405536 . G . . NT END=125504805;NT GT ./. 2 125455912 rs11902093 C G 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6973,G/0.3027;Gene=CNTNAP5/NM_130773.3/1;CC=c.2075-48894C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:4:3:0:0:2,2:72,66:0.00,6.35:0.00,3.12:0.00,3.23:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,52.5:0,0:0,0:88,72:62,78:1,7:-,NM_130773.2(CNTNAP5) c.2075-48894C>G:-,0.32:-,NOT_FOUND 2 125504963 . G . . NT END=125521248;NT GT ./. 2 125521377 . G . . NT END=125521553;NT GT ./. 2 125521725 . G . . NT END=125530375;NT GT ./. 2 125530595 . G . . NT END=125547478;NT GT ./. 2 125547264 rs12465657 A C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7556,C/0.2444;Gene=CNTNAP5/NM_130773.3/1;CC=c.2750-215A>C;VC=Intron;DM=CNTNAP5/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,C:6:6:0:0:3,3:75,101:0.00,9.75:0.00,9.75:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,33.7:0,0:0,0:64,24:86,127:16,1:-,NM_130773.2(CNTNAP5) c.2750-215A>C:-,0.25:-,NOT_FOUND 2 125547719 . G . . NT END=125555672;NT GT ./. 2 125555898 . G . . NT END=125622882;NT GT ./. 2 125622668 . ACT A 8 rn VT=DEL;SST=Single;DP=17;NP=2;Gene=CNTNAP5/NM_130773.3/1;CC=c.3215-198_3215-197delCT;VC=Intron;DM=CNTNAP5/Laminin_G_2;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:ACT,A:17:17:0:3:14,3:439,99:0.00,7.89:0.00,7.89:0.00,0.00:0.00,0.53:0.00,0.53:0.00,0.00:60,60:14.9,29.7:0,0:0,0:76,44:74,105:12,8:-,NM_130773.2(CNTNAP5) c.3215-214_3215-213delCT:-,NOT_FOUND:-,NOT_FOUND 2 125623014 . G . . NT END=125627251;NT GT ./. 2 125627340 . G . . NT END=125660458;NT GT ./. 2 125660678 . G . . NT END=125669043;NT GT ./. 2 125669116 . G . . NT END=125671668;NT GT ./. 2 125671544 rs1840205 G A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.601,A/0.399;PC=0.001;Gene=CNTNAP5/NM_130773.3/1;CC=c.3725-125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,G:13:13:0:0:9,4:280,62:28.96,0.00:28.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.0,35.2:0,0:0,0:59,99:92,48:31,16:NM_130773.2(CNTNAP5) c.3725-125G>A,-:0.39,-:NOT_FOUND,- 2 125671866 . G . . NT END=127413516;NT GT ./. 2 126079200 rs71387278 C GGTGTGT 10 sb,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=28;NP=4;NP=5;NP=9;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,GGTGTGT:5:6:4:0:2,3:48,135:0.00,10.13:0.00,8.59:0.00,1.54:0.00,0.73:0.00,0.73:0.00,0.96:60,60:0.0,41.7:0,1:0,0:126,66:19,81:21,22:-,chr2 g.126079200delCinsGGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 126353354 rs70976179 T TAC 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=22;NP=3;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:T,TAC:4:4:3:0:1,3:30,100:0.00,10.45:0.00,8.63:0.00,1.83:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,0.0:0,0:0,0:132,44:19,102:0,1:-,chr2 g.126353354_126353355insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 126541602 . TACAC T 7 rn VT=DEL;SST=Single;DP=4;NP=13;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TACAC,T:4:3:0:2:2,2:66,68:0.00,6.55:0.00,5.06:0.00,1.49:0.00,0.51:0.00,0.89:0.00,0.79:60,60:27.5,6.0:0,0:0,0:70,48:75,103:40,7:-,chr2 g.126541603_126541606delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 126804943 rs56668058 TCA T 17 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;PC=0.037;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TCA,T:6:5:0:5:1,5:11,162:0.00,17.47:0.00,6.73:0.00,10.74:0.00,0.99:0.00,1.00:0.00,1.00:60,60:35.0,20.8:0,0:0,0:141,57:10,94:0,15:chr2 g.126804944_126804945delCA (intergenic),chr2 g.126804944_126804945delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 127413603 . T TA 20 idl,rn VT=INS;SST=Single;DP=136;Gene=GYPC/NM_001256584.1/0;CC=c.-1106dupA;VC=5UTR;Gene=GYPC/NM_002101.4/1;CC=c.-225dupA;VC=5UTR;Gene=GYPC/NM_016815.3/0;CC=c.-225dupA;VC=5UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,G,T,TA,D:133:103:12:9:2,1,112,10,8:62,22,3315,364,271:2.79,0.29,0.00,19.66,15.56:2.07,-0.20,0.00,16.41,8.16:0.72,0.49,0.00,3.25,7.40:0.00,0.00,0.00,0.96,0.00:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,0.98,0.00:60,60,60,60,60:60.5,54.0,27.2,42.3,10.8:0,0,0,2,1:0,0,0,0,0:68,64,77,42,91:82,87,68,108,60:48,0,31,20,15:-,NM_002101.4(GYPC) c.-225dupA:-,NOT_FOUND:-,NOT_FOUND 2 127413616 rs4143020 G A 181 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=NA;Gene=GYPC/NM_001256584.1/0;CC=c.-1105G>A;VC=5UTR;Gene=GYPC/NM_002101.4/1;CC=c.-224G>A;VC=5UTR;Gene=GYPC/NM_016815.3/0;CC=c.-224G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:138:100:0:5:58,1,79:1935,17,2550:180.66,0.07,0.00:102.19,-0.12,0.00:78.48,0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:49.9,36.0,14.5:0,0,0:0,0,0:74,48,85:70,68,64:30,0,37:NM_002101.4(GYPC) c.-224G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 127413889 . G . . NT END=127433207;NT GT ./. 2 127424389 rs17690541 C T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8143,T/0.1857;Gene=GYPC/NM_001256584.1/0;CC=c.-833+10501C>T;VC=Intron;Gene=GYPC/NM_002101.4/1;CC=c.49+10501C>T;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.49+10501C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:134:15.31:3.93:11.38:1.00:1.00:1.00:60:33.5:0:0:77:73:37:NM_002101.4(GYPC) c.49+10501C>T,NM_002101.4(GYPC) c.49+10501C>T:0.21,0.21:NOT_FOUND,NOT_FOUND 2 127433326 . G . . NT END=127443403;NT GT ./. 2 127443592 rs4662686 A C 175 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.5178,C/0.4822;PC=0.002;Gene=GYPC/NM_001256584.1/0;CC=c.-644A>C;VC=5UTR;Gene=GYPC/NM_002101.4/1;CC=c.50-4239A>C;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.50-7848A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:125:90:0:0:67,57,1:2097,1855,12:0.00,175.49,-0.10:0.00,96.64,-0.13:0.00,78.86,0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.3,69.6,71.0:0,0,0:0,0,0:66,72,38:85,73,112:33,25,0:-,NM_002101.4(GYPC) c.50-4239A>C:-,0.44:-,NOT_FOUND 2 127443627 rs1866658 A G 178 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=A/0.5333,G/0.4667;PC=0.003;Gene=GYPC/NM_001256584.1/0;CC=c.-609A>G;VC=5UTR;Gene=GYPC/NM_002101.4/1;CC=c.50-4204A>G;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.50-7813A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:131:89:0:0:74,57:2287,1898:0.00,178.11:0.00,83.37:0.00,94.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,72.3:0,0:0,0:77,85:73,65:36,28:-,NM_002101.4(GYPC) c.50-4204A>G:-,0.49:-,NOT_FOUND 2 127443771 rs7599354 G T 217 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=G/0.2849,T/0.7151;PC=0.001;Gene=GYPC/NM_001256584.1/0;CC=c.-465G>T;VC=5UTR;Gene=GYPC/NM_002101.4/1;CC=c.50-4060G>T;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.50-7669G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:148:97:0:0:76,72:2429,2275:0.00,217.23:0.00,101.83:0.00,115.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,39.1:0,0:0,0:70,71:78,75:31,40:-,NM_002101.4(GYPC) c.50-4060G>T:-,0.67:-,NOT_FOUND 2 127443958 rs17741936 T G 214 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.6931,G/0.3069;Gene=GYPC/NM_001256584.1/0;CC=c.-278T>G;VC=5UTR;Gene=GYPC/NM_002101.4/1;CC=c.50-3873T>G;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.50-7482T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:144:96:0:0:1,72,71:11,2227,2304:-0.12,213.89,0.00:-0.11,111.46,0.00:-0.01,102.43,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:171.0,35.1,6.7:0,0,0:0,0,0:137,59,68:14,84,78:0,37,41:NM_002101.4(GYPC) c.50-3873T>G,-:0.29,-:NOT_FOUND,- 2 127444222 . g . . NT END=127447830;NT GT ./. 2 127447763 rs6709803 G A 100 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3856,A/0.6144;Gene=GYPC/NM_001256584.1/0;CC=c.-14-68G>A;VC=Intron;Gene=GYPC/NM_002101.4/1;CC=c.50-68G>A;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.50-3677G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:20:0:0:26:878:100.20:60.73:39.47:1.00:1.00:1.00:60:40.2:0:0:36:113:17:NM_002101.4(GYPC) c.50-68G>A,NM_002101.4(GYPC) c.50-68G>A:0.64,0.64:0.58848,0.58848 2 127447888 . G . . NT END=127451439;NT GT ./. 2 127451524 . G . . NT END=127453521;NT GT ./. 2 127453258 rs57890471 GT G 16 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=67;PC=0.017;Gene=GYPC/NM_001256584.1/0;CC=c.128-262delT;VC=Intron;Gene=GYPC/NM_002101.4/1;CC=c.191-262delT;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.134-262delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:5:5:135:15.87:15.87:0.00:1.00:1.00:0.00:60:71.2:0:0:29:122:7:NM_002101.4(GYPC) c.191-263delT,NM_002101.4(GYPC) c.191-263delT:0.64,0.64:NOT_FOUND,NOT_FOUND 2 127453261 rs1530147 A C 13 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7129,C/0.2871;PC=0.018;Gene=GYPC/NM_001256584.1/0;CC=c.128-261A>C;VC=Intron;Gene=GYPC/NM_002101.4/1;CC=c.191-261A>C;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.134-261A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,C:5:5:0:0:1,4:33,117:0.00,12.50:0.00,12.50:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:33.0,80.8:1,4:0,0:26,49:125,102:0,21:-,NM_002101.4(GYPC) c.191-261A>C:-,NOT_FOUND:-,NOT_FOUND 2 127453301 rs1968539 C T 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3868,T/0.6132;Gene=GYPC/NM_001256584.1/0;CC=c.128-221C>T;VC=Intron;Gene=GYPC/NM_002101.4/1;CC=c.191-221C>T;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.134-221C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:236:27.76:27.76:0.00:1.00:1.00:0.00:60:65.3:0:0:64:85:35:NM_002101.4(GYPC) c.191-221C>T,NM_002101.4(GYPC) c.191-221C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 2 127453386 rs1530148 C T 55 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6781,T/0.3219;PC=0.006;Gene=GYPC/NM_001256584.1/0;CC=c.128-136C>T;VC=Intron;Gene=GYPC/NM_002101.4/1;CC=c.191-136C>T;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.134-136C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:27:0:0:10,17:256,543:0.00,54.70:0.00,54.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.4,59.2:0,0:0,0:70,37:80,114:27,12:-,NM_002101.4(GYPC) c.191-136C>T:-,0.36:-,NOT_FOUND 2 127453479 rs4538146 G A 101 nt VT=SNV;PN=A;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.6781,A/0.3219;Gene=GYPC/NM_001256584.1/0;CC=c.128-43G>A;VC=Intron;Gene=GYPC/NM_002101.4/1;CC=c.191-43G>A;VC=Intron;Gene=GYPC/NM_016815.3/0;CC=c.134-43G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:53:0:0:34,26:1023,871:100.55,0.00:64.61,0.00:35.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.6,6.2:0,0:0,0:63,47:86,102:32,18:NM_002101.4(GYPC) c.191-43G>A,-:0.36,-:0.273874,- 2 127453664 rs1050967 A C 351 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.385,C/0.615,T/.;Gene=GYPC/NM_001256584.1/0;CC=c.270A>C;ProtCh=p.G90=;VC=Silent;Gene=GYPC/NM_002101.4/1;CC=c.333A>C;ProtCh=p.G111=;VC=Silent;Gene=GYPC/NM_016815.3/0;CC=c.276A>C;ProtCh=p.G92=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:100:63:0:0:2,98:19,3080:0.00,350.98:0.00,150.73:0.00,200.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:151.0,39.1:0,0:0,0:84,79:66,60:8,28:NM_002101.4(GYPC) c.333A>C (p.(=)),NM_002101.4(GYPC) c.333A>C (p.(=)):0.6,0.6:0.599185,0.599185 2 127453719 . G . . NT END=127806101;NT GT ./. 2 127806210 . C . . NT END=127807996;NT GT ./. 2 127808099 . C . . NT END=127808377;NT GT ./. 2 127808226 rs2071270 A T 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.601,T/0.399;Gene=BIN1/NM_004305.3/0;CC=c.1156-128T>A;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.1573-128T>A;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.1444-128T>A;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.1312-128T>A;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.1285-128T>A;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.1348-128T>A;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.1240-128T>A;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.1219-128T>A;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.1111-128T>A;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.1021-128T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:43:15:0:0:31,12:1031,402:0.00,34.87:0.00,12.10:0.00,22.77:0.00,1.00:0.00,0.98:0.00,1.00:60,60:7.3,45.2:0,0:0,0:96,75:53,74:29,39:-,NM_139343.2(BIN1) c.1573-128T>A:-,0.39:-,NOT_FOUND 2 127808489 . C . . NT END=127808729;NT GT ./. 2 127808532 rs2043798 G A 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.6907,A/0.3093;Gene=BIN1/NM_004305.3/0;CC=c.1045-44C>T;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.1462-44C>T;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.1333-44C>T;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.1201-44C>T;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.1174-44C>T;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.1237-44C>T;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.1129-44C>T;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.1108-44C>T;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.1000-44C>T;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.910-44C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:62:33:0:0:28,1,33:909,5,1052:85.94,-0.19,0.00:27.30,-0.11,0.00:58.64,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:51.9,25.0,19.0:0,0,0:0,0,0:91,76,101:60,75,49:22,0,29:NM_139343.2(BIN1) c.1462-44C>T,-:0.31,-:0.313,- 2 127808820 . C . . NT END=127809830;NT GT ./. 2 127808909 rs6745677 G A 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.5665,A/0.4335;Gene=BIN1/NM_004305.3/0;CC=c.955-90C>T;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.1372-90C>T;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.1243-90C>T;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.1111-90C>T;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.1084-90C>T;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.1147-90C>T;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.1039-90C>T;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.1018-90C>T;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.910-90C>T;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.910-421C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:4:0:0:14,25:459,804:41.53,0.00:-0.39,0.00:41.91,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:46.8,13.1:0,0:0,0:57,127:93,24:48,14:NM_139343.2(BIN1) c.1372-90C>T,-:0.42,-:NOT_FOUND,- 2 127809939 . C . . NT END=127810997;NT GT ./. 2 127811022 . C . . NT END=127811480;NT GT ./. 2 127811042 rs76414720 G A 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8676,A/0.1324;PC=0.084;Gene=BIN1/NM_004305.3/0;CC=c.955-2223C>T;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.1240-21C>T;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.1111-21C>T;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.1003-1104C>T;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.1084-2223C>T;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.1039-1104C>T;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.1039-2223C>T;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.910-1104C>T;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.910-2223C>T;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.910-2554C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:37:23:0:0:14,1,22:457,14,678:41.94,0.21,0.00:18.47,-0.12,0.00:23.46,0.32,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.1,14.0,10.4:0,0,0:0,0,0:100,3,78:50,148,64:18,0,45:NM_139343.2(BIN1) c.1240-21C>T,-:0.11,-:0.145471,- 2 127811589 . C . . NT END=127815048;NT GT ./. 2 127811712 rs397870265 G GCA 21 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6156,GCA/0.3844;DB;DBA=NA;PAF=G/0.6156,GCA/0.3844;NP=181;Gene=BIN1/NM_004305.3/0;CC=c.955-2894_955-2893insTG;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.1132-125_1132-124insTG;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.1003-125_1003-124insTG;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.1003-1775_1003-1774insTG;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.1084-2894_1084-2893insTG;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.1039-1775_1039-1774insTG;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.1039-2894_1039-2893insTG;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.910-1775_910-1774insTG;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.910-2894_910-2893insTG;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.910-3225_910-3224insTG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCA:22:0:7:0:15,7:466,235:0.00,20.87:0.00,0.00:0.00,20.87:0.00,0.97:0.00,0.00:0.00,0.97:60,60:12.1,2.1:0,0:0,0:79,81:72,69:34,33:-,NM_139343.2(BIN1) c.1132-125_1132-124insTG:-,0.36:-,NOT_FOUND 2 127815178 . C . . NT END=127816586;NT GT ./. 2 127815472 rs397873512 GA G 11 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=GA/0.3221,G/0.6779;DB;DBA=NA;PAF=GA/0.3221,G/0.6779;NP=45;PC=0.001;Gene=BIN1/NM_004305.3/0;CC=c.954+1114delT;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.1003-296delT;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.1002+1114delT;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.1002+1114delT;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.955-296delT;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.910-296delT;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.910-296delT;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.909+1114delT;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.909+1114delT;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.909+1114delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:GA,G:11:0:0:4:7,4:232,125:0.00,11.28:0.00,0.00:0.00,11.28:0.00,0.82:0.00,0.00:0.00,0.82:60,60:17.0,7.2:0,0:0,0:115,67:36,82:29,23:-,NM_139343.2(BIN1) c.1003-296delT:-,0.62:-,NOT_FOUND 2 127816732 . C . . NT END=127818171;NT GT ./. 2 127816846 rs546903184 CTG C 19 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=CTG/0.5964,C/0.4036;DB;DBA=NA;PAF=CTG/0.5964,C/0.4036;NP=121;Gene=BIN1/NM_004305.3/0;CC=c.810-117_810-116delCA;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.858-117_858-116delCA;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.858-117_858-116delCA;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.858-117_858-116delCA;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.810-117_810-116delCA;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.765-117_765-116delCA;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.765-117_765-116delCA;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.765-117_765-116delCA;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.765-117_765-116delCA;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.765-117_765-116delCA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTG,C:28:7:0:9:20,8:561,255:0.00,19.46:0.00,1.12:0.00,18.34:0.00,0.98:0.00,0.87:0.00,1.00:60,70:32.8,53.6:0,1:0,0:129,101:19,50:9,10:-,NM_139343.2(BIN1) c.858-117_858-116delCA:-,NOT_FOUND:-,NOT_FOUND 2 127818021 rs74895054 C T 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.8956,T/0.1044;Gene=BIN1/NM_004305.3/0;CC=c.809+151G>A;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.858-1290G>A;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.858-1290G>A;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.858-1290G>A;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.809+151G>A;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.765-1290G>A;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.765-1290G>A;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.765-1290G>A;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.765-1290G>A;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.765-1290G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:C,T:19:19:0:0:13,6:445,198:0.00,17.52:0.00,17.52:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:7.4,33.0:0,0:0,0:37,11:114,139:30,7:-,NM_139343.2(BIN1) c.858-1290G>A:-,0.08:-,NOT_FOUND 2 127818217 . C . . NT END=127819690;NT GT ./. 2 127819774 . C . . NT END=127821146;NT GT ./. 2 127819777 rs61748157 C T 86 nt VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.9028,T/0.09724;PC=0.001;Gene=BIN1/NM_004305.3/0;CC=c.682-4G>A;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.775-4G>A;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.775-4G>A;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.775-4G>A;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.682-4G>A;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.682-4G>A;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.682-4G>A;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.682-4G>A;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.682-4G>A;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.682-4G>A;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:63:37:0:0:31,2,30:990,24,904:0.00,0.34,86.31:0.00,-0.20,35.85:0.00,0.54,50.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.4,137.0,42.5:0,0,0:0,0,0:87,40,86:61,94,59:23,24,27:-,NM_139343.2(BIN1) c.775-4G>A:-,0.08:-,0.105506 2 127821085 rs2071268 C T 42 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6548,T/0.3452;PC=0.005;Gene=BIN1/NM_004305.3/0;CC=c.681+62G>A;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.774+62G>A;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.774+62G>A;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.774+62G>A;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.681+62G>A;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.681+62G>A;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.681+62G>A;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.681+62G>A;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.681+62G>A;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.681+62G>A;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:35:0:0:22,15:692,459:0.00,42.20:0.00,41.70:0.00,0.50:0.00,1.00:0.00,1.00:0.00,0.99:60,60:13.5,53.1:0,0:0,0:30,35:120,106:21,21:-,NM_139343.2(BIN1) c.774+62G>A:-,0.33:-,0.283399 2 127821223 . C . . NT END=127821508;NT GT ./. 2 127821453 rs78935905 G A 107 nt VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.896,A/0.104;PC=0.915;Gene=BIN1/NM_004305.3/0;CC=c.605+56C>T;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.698+56C>T;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.698+56C>T;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.698+56C>T;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.605+56C>T;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.605+56C>T;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.605+56C>T;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.605+56C>T;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.605+56C>T;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.605+56C>T;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:61:46:0:0:34,1,26:1090,9,818:107.34,-0.06,0.00:79.89,-0.12,0.00:27.45,0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.8,146.0,13.0:0,0,0:0,0,0:52,79,37:98,48,108:37,0,16:NM_139343.2(BIN1) c.698+56C>T,-:0.08,-:0.113009,- 2 127821499 rs72481904 T C 121 nt VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.6548,C/0.3452;Gene=BIN1/NM_004305.3/0;CC=c.605+10A>G;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.698+10A>G;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.698+10A>G;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.698+10A>G;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.605+10A>G;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.605+10A>G;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.605+10A>G;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.605+10A>G;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.605+10A>G;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.605+10A>G;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:70:0:0:42,46:1278,1528:121.33,0.00:70.97,0.00:50.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.1,6.7:0,0:0,0:62,51:84,85:28,28:NM_139343.2(BIN1) c.698+10A>G,-:0.33,-:0.287175,- 2 127821595 . C . . NT END=127825738;NT GT ./. 2 127821839 rs75308426 G C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6548,C/0.3452;Gene=BIN1/NM_004305.3/0;CC=c.520-245C>G;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.613-245C>G;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.613-245C>G;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.613-245C>G;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.520-245C>G;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.520-245C>G;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.520-245C>G;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.520-245C>G;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.520-245C>G;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.520-245C>G;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,G:7:1:0:0:3,4:97,84:9.08,0.00:1.80,0.00:7.28,0.00:0.69,0.00:0.62,0.00:0.69,0.00:60,60:32.3,10.8:0,0:0,0:100,85:50,66:22,43:NM_139343.2(BIN1) c.613-245C>G,-:0.33,-:NOT_FOUND,- 2 127825832 . C . . NT END=127826499;NT GT ./. 2 127826608 . C . . NT END=127827570;NT GT ./. 2 127826632 rs67327804 A G 91 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.6931,G/0.3069;PC=0.212;Gene=BIN1/NM_004305.3/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.412-25T>C;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.412-25T>C;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:29:0:0:19,26:596,914:0.00,90.52:0.00,37.29:0.00,53.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,36.9:0,0:0,0:96,90:50,58:25,16:-,NM_139343.2(BIN1) c.412-25T>C:-,0.26:-,0.346532 2 127827307 rs368418986 A AACACAC 9 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=2;Gene=BIN1/NM_004305.3/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.411+263_411+264insGTGTGT;VC=Intron;DM=BIN1/BAR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,AACACAC,D:9:9:4:2:4,3,2:135,128,66:0.00,8.64,5.77:0.00,5.52,5.91:0.00,3.12,-0.15:0.00,0.62,0.00:0.00,0.94,0.00:0.00,0.76,0.00:60,60,60:6.2,34.0,0.0:0,1,0:0,0,0:84,54,18:56,97,127:19,7,0:-,NM_139343.2(BIN1) c.411+263_411+264insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 127827667 . C . . NT END=127828128;NT GT ./. 2 127828224 . C . . NT END=127828337;NT GT ./. 2 127828393 . C . . NT END=127834201;NT GT ./. 2 127834283 . C . . NT END=127839407;NT GT ./. 2 127834459 rs7562227 T C 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.4135,C/0.5865;Gene=BIN1/NM_004305.3/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.85-177A>G;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.85-177A>G;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:0:0:0:15,13:518,378:50.58,0.00:0.00,0.00:50.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:44.8,22.2:0,0:0,0:122,119:29,32:13,19:NM_139343.2(BIN1) c.85-177A>G,-:0.52,-:NOT_FOUND,- 2 127839433 . G . . NT END=127864435;NT GT ./. 2 127839474 rs11682128 G A 90 nt VT=SNV;PN=C;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.7169,A/0.2831;PC=0.001;Gene=BIN1/NM_004305.3/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139343.2/1;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139344.2/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139345.2/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139346.2/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139347.2/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139348.2/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139349.2/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139350.2/0;CC=c.85-5192C>T;VC=Intron;Gene=BIN1/NM_139351.2/0;CC=c.85-5192C>T;VC=Intron;DM=BIN1/BAR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:52:0:0:32,59:1008,1906:90.48,0.00:34.07,0.00:56.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,9.1:0,0:0,0:107,94:40,40:20,28:NM_139343.2(BIN1) c.85-5192C>T,-:0.3,-:NOT_FOUND,- 2 127864520 . C . . NT END=127944846;NT GT ./. 2 127878015 rs7575754 T C 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=356;PC=0.798 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,T:6:5:0:0:2,4:72,124:6.50,0.00:6.85,0.00:-0.35,0.00:0.42,0.00:0.86,0.00:0.73,0.00:40,60:36.0,5.0:0,0:0,0:123,24:26,126:15,8:chr2 g.127878014T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 127944781 rs11384285 A AC 29 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2572,AC/0.7428;NP=3079;Gene=CYP27C1/NM_001001665.3/1;CC=c.*65_*66insG;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AC:27:26:10:0:17,10:540,322:0.00,29.25:0.00,27.72:0.00,1.52:0.00,1.00:0.00,1.00:0.00,0.67:60,60:8.0,16.4:0,0:0,0:42,50:109,100:39,24:-,NM_001001665.3(CYP27C1) c.*65_*66insG:-,0.72:-,NOT_FOUND 2 127944964 . C . . NT END=127950669;NT GT ./. 2 127950874 . C . . NT END=127951364;NT GT ./. 2 127950997 rs4321325 C T 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.8716,T/0.1284;Gene=CYP27C1/NM_001001665.3/1;CC=c.799-124G>A;VC=Intron;DM=CYP27C1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:0:0:0:13,14:419,392:0.00,37.71:0.00,0.00:0.00,37.71:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.1,41.8:0,0:0,0:117,99:34,51:22,31:-,NM_001001665.3(CYP27C1) c.799-124G>A:-,0.11:-,NOT_FOUND 2 127951444 . C . . NT END=127952910;NT GT ./. 2 127953054 rs7568070 A C 126 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.7206,C/0.2794;Gene=CYP27C1/NM_001001665.3/1;CC=c.576T>G;ProtCh=p.T192=;VC=Silent;DM=CYP27C1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:88:54:0:0:43,44,1:1457,1318,29:0.00,126.48,1.23:0.00,47.79,-0.12:0.00,78.69,1.34:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.2,38.5,29.0:0,0,0:0,0,0:77,78,83:68,69,67:39,42,0:-,NM_001001665.3(CYP27C1) c.576T>G (p.(=)):-,0.25:-,0.330847 2 127953078 . C . . NT END=127956951;NT GT ./. 2 127957116 . C . . NT END=127958697;NT GT ./. 2 127958517 rs11680885 C T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7482,T/0.2518;PC=0.853;Gene=CYP27C1/NM_001001665.3/1;CC=c.388+181G>A;VC=Intron;DM=CYP27C1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,T:11:11:0:0:4,7:114,222:0.00,22.44:0.00,22.44:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.2,43.1:0,0:0,0:82,25:69,126:28,21:-,NM_001001665.3(CYP27C1) c.388+181G>A:-,0.25:-,NOT_FOUND 2 127958538 . CA C 7 rn VT=DEL;SST=Single;DP=17;NP=7;PC=0.683;Gene=CYP27C1/NM_001001665.3/1;CC=c.388+159delT;VC=Intron;DM=CYP27C1/p450;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CA,C:16:17:0:4:13,3:422,110:0.00,6.58:0.00,6.58:0.00,0.00:0.00,0.53:0.00,0.53:0.00,0.00:60,60:25.3,42.3:0,1:0,0:33,18:118,132:33,14:-,NM_001001665.3(CYP27C1) c.388+159delT:-,NOT_FOUND:-,NOT_FOUND 2 127958908 . C . . NT END=127960947;NT GT ./. 2 127960745 . GA G,GAA 7 idl,nt VT=DEL;SST=Single;DP=5;NP=3;DM=CYP27C1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:28:GAA,G:3:5:2:3:1,2:66,90:2.98,6.66:2.98,6.66:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:0.0,14.0:1,1:0,0:38,28:112,123:36,2:NM_001001665.3(CYP27C1) c.178+202delT,NM_001001665.3(CYP27C1) c.178+202dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 127961148 . C . . NT END=127963234;NT GT ./. 2 127963344 . G . . NT END=128015171;NT GT ./. 2 128006991 rs6430935 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6198,T/0.3802;PC=0.921 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:7:5:0:0:4,3:82,94:0.00,8.79:0.00,9.24:0.00,-0.45:0.00,0.69:0.00,0.93:0.00,0.73:60,60:31.8,41.7:0,0:0,0:17,34:126,117:14,8:-,chr2 g.128006990C>T (intergenic):-,0.35:-,NOT_FOUND 2 128007686 rs6430936 A C 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.1647,C/0.8353;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:7:0:0:14,16:454,530:0.00,51.63:0.00,6.85:0.00,44.78:0.00,1.00:0.00,0.99:0.00,1.00:60,60:4.9,41.0:0,0:0,0:108,105:41,45:32,30:-,chr2 g.128007685A>C (intergenic):-,0.85:-,NOT_FOUND 2 128015304 . C . . NT END=128016871;NT GT ./. 2 128015367 rs4662718 C T 98 nt VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.1863,T/0.8137;Gene=ERCC3/NM_001303416.1/0;CC=c.2026-64G>A;VC=Intron;Gene=ERCC3/NM_001303418.1/0;CC=c.2026-64G>A;VC=Intron;Gene=ERCC3/NM_000122.1/1;CC=c.2218-64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:22:0:0:31,34:1060,1017:0.00,98.30:0.00,16.96:0.00,81.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,41.5:0,0:0,0:113,98:38,48:23,26:-,NM_000122.1(ERCC3) c.2218-64G>A:-,0.83:-,NOT_FOUND 2 128017025 . C . . NT END=128018803;NT GT ./. 2 128018923 . C . . NT END=128028911;NT GT ./. 2 128029030 . C . . NT END=128030440;NT GT ./. 2 128029065 rs398042650 GA G 32 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=843;Gene=ERCC3/NM_001303416.1/0;CC=c.1636-37delT;VC=Intron;Gene=ERCC3/NM_001303418.1/0;CC=c.1636-37delT;VC=Intron;Gene=ERCC3/NM_000122.1/1;CC=c.1828-37delT;VC=Intron;DM=ERCC3/ERCC3_RAD25_C;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:28:13:1:12:2,13,1,12:27,410,33,341:1.08,0.00,2.13,32.25:-0.16,0.00,1.09,10.57:1.24,0.00,1.04,21.68:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:67.0,8.0,0.0,8.8:0,0,0,0:0,0,0,0:87,103,114,101:61,29,36,50:6,32,0,27:-,NM_000122.1(ERCC3) c.1828-37delT:-,NOT_FOUND:-,0.324916 2 128030538 . C . . NT END=128036748;NT GT ./. 2 128036952 . C . . NT END=128038022;NT GT ./. 2 128038208 . C . . NT END=128044278;NT GT ./. 2 128044121 rs111463049 CA C 8 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=6;PC=0.580;Gene=ERCC3/NM_001303416.1/0;CC=c.1150+157delT;VC=Intron;Gene=ERCC3/NM_001303418.1/0;CC=c.1150+157delT;VC=Intron;Gene=ERCC3/NM_000122.1/1;CC=c.1342+157delT;VC=Intron;DM=ERCC3/ResIII;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:CA,C:12:13:0:4:9,3:303,123:0.00,8.10:0.00,8.10:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,60:7.3,10.3:0,1:0,0:43,75:107,76:28,14:-,NM_000122.1(ERCC3) c.1342+157delT:-,NOT_FOUND:-,NOT_FOUND 2 128044594 . C . . NT END=128046235;NT GT ./. 2 128046441 . C . . NT END=128046912;NT GT ./. 2 128046548 rs4150416 C A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.2602,A/0.7398;Gene=ERCC3/NM_001303416.1/0;CC=c.631-108G>T;VC=Intron;Gene=ERCC3/NM_001303418.1/0;CC=c.631-108G>T;VC=Intron;Gene=ERCC3/NM_000122.1/1;CC=c.823-108G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,C:18:1:0:0:4,14:110,436:8.78,0.00:-0.11,0.00:8.89,0.00:0.73,0.00:0.48,0.00:0.96,0.00:60,60:32.2,20.6:0,0:0,0:103,63:47,87:18,30:NM_000122.1(ERCC3) c.823-108G>T,-:0.76,-:NOT_FOUND,- 2 128047078 . C . . NT END=128047264;NT GT ./. 2 128047401 . C . . NT END=128047799;NT GT ./. 2 128047850 . C . . NT END=128050185;NT GT ./. 2 128050000 rs4150404 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1857,G/0.8143;PC=0.001;Gene=ERCC3/NM_001303416.1/0;CC=c.279+186T>C;VC=Intron;Gene=ERCC3/NM_001303418.1/0;CC=c.279+186T>C;VC=Intron;Gene=ERCC3/NM_000122.1/1;CC=c.471+186T>C;VC=Intron;DM=ERCC3/Helicase_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,G:12:12:0:0:5,7:172,156:0.00,15.31:0.00,15.31:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:24.6,45.0:0,0:0,0:79,39:72,112:37,30:-,NM_000122.1(ERCC3) c.471+186T>C:-,0.84:-,NOT_FOUND 2 128050068 rs4150403 C T 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9754,T/0.02456;Gene=ERCC3/NM_001303416.1/0;CC=c.279+118G>A;VC=Intron;Gene=ERCC3/NM_001303418.1/0;CC=c.279+118G>A;VC=Intron;Gene=ERCC3/NM_000122.1/1;CC=c.471+118G>A;VC=Intron;DM=ERCC3/Helicase_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:13:13:0:0:7,6:222,187:0.00,17.67:0.00,17.67:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:37.3,50.0:0,0:0,0:77,77:73,73:30,37:-,NM_000122.1(ERCC3) c.471+118G>A:-,0.04:-,NOT_FOUND 2 128050134 rs4150402 T C 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.1751,C/0.8249;Gene=ERCC3/NM_001303416.1/0;CC=c.279+52A>G;VC=Intron;Gene=ERCC3/NM_001303418.1/0;CC=c.279+52A>G;VC=Intron;Gene=ERCC3/NM_000122.1/1;CC=c.471+52A>G;VC=Intron;DM=ERCC3/Helicase_C_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:29:0:0:14,15:410,477:38.95,0.00:35.24,0.00:3.71,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:42.0,14.2:0,0:0,0:28,29:122,121:14,26:NM_000122.1(ERCC3) c.471+52A>G,-:0.84,-:0.736484,- 2 128050423 . C . . NT END=128051088;NT GT ./. 2 128051295 . C . . NT END=128051370;NT GT ./. 2 128051658 . G . . NT END=128065154;NT GT ./. 2 128065381 . C . . NT END=128066160;NT GT ./. 2 128066339 . C . . NT END=128072329;NT GT ./. 2 128072460 . C . . NT END=128075204;NT GT ./. 2 128075337 . C . . NT END=128075744;NT GT ./. 2 128075399 rs77307198 T C 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.976,C/0.02396;PC=0.001;Gene=MAP3K2/NM_006609.4/1;CC=c.1195-63A>G;VC=Intron;DM=MAP3K2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:33:18:0:0:1,14,18:10,455,563:0.01,42.66,0.00:0.13,10.25,0.00:-0.11,32.41,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:119.0,33.1,7.6:0,0,0:0,0,0:103,102,95:34,38,47:0,28,31:NM_006609.4(MAP3K2) c.1195-63A>G,-:0.04,-:NOT_FOUND,- 2 128075624 rs397985826 C CT 30 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.4159,CT/0.5841;DB;DBA=NA;PAF=C/0.4159,CT/0.5841;NP=1;NP=400;Gene=MAP3K2/NM_006609.4/1;CC=c.1194+120dupA;VC=Intron;DM=MAP3K2/Pkinase;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:22:20:11:4:9,10,3:267,348,129:0.00,30.38,7.81:0.00,23.68,5.39:0.00,6.71,2.42:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.92,0.00:60,60,60:38.3,34.3,15.0:0,1,1:0,0,0:42,41,23:82,110,126:31,13,6:-,NM_006609.4(MAP3K2) c.1194+120_1194+121insA:-,NOT_FOUND:-,NOT_FOUND 2 128075894 . C . . NT END=128079621;NT GT ./. 2 128079806 rs3732209 A G 94 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.7935,G/0.2065;PC=0.981;Gene=MAP3K2/NM_006609.4/1;CC=c.861T>C;ProtCh=p.A287=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:28:0:0:28,30:924,975:0.00,94.36:0.00,24.63:0.00,69.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,36.7:0,0:0,0:68,87:76,56:31,35:-,NM_006609.4(MAP3K2) c.861T>C (p.(=)):-,0.19:-,0.296227 2 128079829 . C . . NT END=128081477;NT GT ./. 2 128081571 . C . . NT END=128081749;NT GT ./. 2 128081818 . C . . NT END=128083303;NT GT ./. 2 128083384 . C . . NT END=128084262;NT GT ./. 2 128084394 . C . . NT END=128087496;NT GT ./. 2 128087585 . C . . NT END=128087967;NT GT ./. 2 128087651 rs61422716 C T 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.8235,T/0.1765;PC=0.001;Gene=MAP3K2/NM_006609.4/1;CC=c.379-67G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:6:0:0:12,7:409,240:0.00,21.91:0.00,6.79:0.00,15.12:0.00,0.98:0.00,0.92:0.00,0.98:60,60:2.7,36.3:0,0:0,0:119,60:30,91:18,11:-,NM_006609.4(MAP3K2) c.379-67G>A:-,0.16:-,NOT_FOUND 2 128088082 . C . . NT END=128093445;NT GT ./. 2 128093546 . C . . NT END=128095313;NT GT ./. 2 128095355 . C . . NT END=128096507;NT GT ./. 2 128096627 . C . . NT END=128100701;NT GT ./. 2 128099964 rs58045272 G GGT 10 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=21;NP=24;NP=5;PC=0.002;Gene=MAP3K2/NM_006609.4/1;CC=c.4+737_4+738insAC;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:G,GGT,D:5:5:3:3:1,3,1:34,99,95:0.00,9.98,2.87:0.00,3.19,0.17:0.00,6.80,2.70:0.00,0.69,0.00:0.00,0.93,0.00:0.00,0.93,0.00:60,60,60:0.0,17.3,22.0:0,0,2:0,0,0:76,79,94:74,72,57:0,8,10:-,NM_006609.4(MAP3K2) c.4+737_4+738insAC:-,NOT_FOUND:-,NOT_FOUND 2 128100706 . T . . NT END=128135703;NT GT ./. 2 128135778 . G . . NT END=128145041;NT GT ./. 2 128144731 rs12989081 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4103,C/0.5897 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:5:5:0:0:3,2:71,62:7.06,0.00:7.06,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:40.0,5.0:0,0:0,0:45,69:105,81:32,36:XR_109888.1(LOC100506922) n.-746T>C,-:0.63,-:NOT_FOUND,- 2 128144970 . G A 7 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:A,G:31:31:0:0:3,28:102,817:7.35,0.00:7.53,0.00:-0.18,0.00:0.42,0.00:0.42,0.00:0.51,0.00:60,60:91.3,18.8:1,24:0,0:7,43:144,99:1,18:XR_109888.1(LOC100506922) n.-507G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 128144974 rs527377025 G GCGCGCCCACACACACACACA 47 idl,nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,G,GCGCGCCCACACACACACACA:21:30:25:0:2,4,15:68,64,731:5.26,0.00,47.23:5.26,0.00,39.38:0.00,0.00,7.85:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:102.0,24.0,30.3:0,0,10:0,0,0:10,131,43:140,11,106:0,8,12:-,XR_109888.1(LOC100506922) n.-503_-502insCGCGCCCACACACACACACA:-,NOT_FOUND:-,NOT_FOUND 2 128145121 rs71343622 G T 267 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=G/0.8257,T/0.1743;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:172:142:0:0:1,87,84:8,2619,2786:-0.19,0.00,267.25:-0.09,0.00,182.91:-0.10,0.00,84.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:112.0,10.4,40.9:0,0,0:0,0,0:140,64,68:11,87,79:0,39,41:-,XR_109888.1(LOC100506922) n.-356G>T:-,0.17:-,NOT_FOUND 2 128145205 . G . . NT END=128145300;NT GT ./. 2 128145293 rs6761123 A G 658 nt VT=SNV;PN=C;NN=C;SST=Single;DP=185;DB;DBA=NA;PAF=A/0.01637,G/0.9836;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:185:111:0:0:1,184:9,5718:0.04,658.28:0.00,276.63:0.04,381.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,40.2:0,0:0,0:45,80:102,70:0,34:XR_109888.1(LOC100506922) n.-184A>G,XR_109888.1(LOC100506922) n.-184A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 128145771 rs11541137 C T 190 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.8297,T/0.1703;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:148:87:0:0:85,63:2538,2041:0.00,190.36:0.00,79.66:0.00,110.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,43.3:0,0:0,0:72,87:76,60:41,43:-,XR_109888.1(LOC100506922) n.295C>T:-,0.16:-,NOT_FOUND 2 128145888 . G . . NT END=128146456;NT GT ./. 2 128146147 . C CAA 25 nt VT=INS;SST=Single;DP=21;NP=428;PC=0.008;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAA:21:1:9:0:12,9:357,270:0.00,25.07:0.00,1.80:0.00,23.27:0.00,1.00:0.00,0.62:0.00,1.00:60,60:23.0,9.2:0,0:0,0:71,125:79,25:41,14:-,XR_109888.1(LOC100506922) n.671_672insAA:-,0.29:-,NOT_FOUND 2 128146462 rs2276682 T A 26 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.2402,A/0.7598 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:36:27:0:0:10,26:305,873:26.03,0.00:14.08,0.00:11.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:30.5,2.3:0,0:0,0:48,58:80,80:36,21:XR_109888.1(LOC100506922) n.986T>A,-:0.78,-:NOT_FOUND,- 2 128146542 . G . . NT END=128176022;NT GT ./. 2 128175779 rs2069904 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7887,A/0.2113 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:43.2:0:0:57:93:15:NM_000312.3(PROC) c.-94-u217G>A,NM_000312.3(PROC) c.-94-u217G>A:0.2,0.2:NOT_FOUND,NOT_FOUND 2 128176040 rs1799810 A T 202 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.6068,T/0.3932;PC=0.003;Gene=PROC/NM_000312.3/1;CC=c.-50A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:T:56:44:0:0:56:1753:201.90:113.56:88.34:1.00:1.00:1.00:60:38.7:0:0:69:75:29:NM_000312.3(PROC) c.-50A>T,NM_000312.3(PROC) c.-50A>T:0.35,0.35:NOT_FOUND,NOT_FOUND 2 128176069 . G . . NT END=128177381;NT GT ./. 2 128176195 rs2854700 G A 76 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.004992,A/0.995;NP=133;Gene=PROC/NM_000312.3/1;CC=c.-22+127G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:0:0:0:21:664:76.41:0.00:76.41:1.00:0.00:1.00:60:49.5:0:0:119:32:19:NM_000312.3(PROC) c.-22+127G>A,NM_000312.3(PROC) c.-22+127G>A:1,1:NOT_FOUND,NOT_FOUND 2 128176230 rs41280570 C T 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7883,T/0.2117;Gene=PROC/NM_000312.3/1;CC=c.-22+162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:290:33.29:0.00:33.29:1.00:0.00:1.00:60:60.7:0:0:121:30:14:NM_000312.3(PROC) c.-22+162C>T,NM_000312.3(PROC) c.-22+162C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 2 128177589 . G . . NT END=128178858;NT GT ./. 2 128179026 . G . . NT END=128180492;NT GT ./. 2 128180518 . G . . NT END=128180609;NT GT ./. 2 128180872 rs5936 G T 509 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=138;DB;DBA=NA;PAF=G/0.3542,T/0.6458;Gene=PROC/NM_000312.3/1;CC=c.423G>T;ProtCh=p.S141=;VC=Silent;DM=PROC/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:138:78:0:0:1,137:10,4461:0.00,509.49:0.00,230.83:0.00,278.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.0,47.8:0,0:0,0:113,85:31,63:0,39:NM_000312.3(PROC) c.423G>T (p.(=)),NM_000312.3(PROC) c.423G>T (p.(=)):0.66,0.66:0.722312,0.722312 2 128180985 . G . . NT END=128183660;NT GT ./. 2 128181028 rs1878844 A G 308 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.004992,G/0.995;NP=723;PC=0.001;Gene=PROC/NM_000312.3/1;CC=c.535+44A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:38:0:0:84:2679:307.91:86.33:221.58:1.00:1.00:1.00:60:36.7:0:0:97:50:27:NM_000312.3(PROC) c.535+44A>G,NM_000312.3(PROC) c.535+44A>G:1,1:0.993346,0.993346 2 128181234 rs397833012 GC G 19 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GC/0.3435,G/0.6565;DB;DBA=NA;PAF=GC/0.3435,G/0.6565;NP=8;Gene=PROC/NM_000312.3/1;CC=c.535+255delC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:GC,G:7:0:0:6:1,6:23,175:0.00,19.10:0.00,0.00:0.00,19.10:0.00,1.00:0.00,0.00:0.00,1.00:60,60:131.0,36.0:0,0:0,0:145,74:-19,67:0,34:-,NM_000312.3(PROC) c.535+251delC:-,0.67:-,NOT_FOUND 2 128183447 rs2679404 A G 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.004193,G/0.9958;NP=613;PC=0.005;Gene=PROC/NM_000312.3/1;CC=c.536-214A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:338:39.02:39.02:0.00:1.00:1.00:0.00:60:40.5:0:0:20:131:20:NM_000312.3(PROC) c.536-214A>G,NM_000312.3(PROC) c.536-214A>G:1,1:NOT_FOUND,NOT_FOUND 2 128183804 . G . . NT END=128184680;NT GT ./. 2 128184770 rs5937 T C 213 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.7702,C/0.2298;Gene=PROC/NM_000312.3/1;CC=c.768T>C;ProtCh=p.D256=;VC=Silent;DM=PROC/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C:59:36:0:0:59:1849:212.54:86.93:125.61:1.00:1.00:1.00:60:34.3:0:0:105:39:33:NM_000312.3(PROC) c.768T>C (p.(=)),NM_000312.3(PROC) c.768T>C (p.(=)):0.21,0.21:0.324081,0.324081 2 128184799 . G . . NT END=128185932;NT GT ./. 2 128185688 rs2069933 T C 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3373,C/0.6627;Gene=PROC/NM_000312.3/1;CC=c.797-245T>C;VC=Intron;DM=PROC/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:208:24.10:24.10:0.00:1.00:1.00:0.00:60:36.3:0:0:37:114:26:NM_000312.3(PROC) c.797-245T>C,NM_000312.3(PROC) c.797-245T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 2 128186523 . C . . NT END=128238619;NT GT ./. 2 128231971 rs200146391 A AAC 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;NP=28;PC=0.001;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,AAC,D:7:5:4:1:3,3,1:48,131,34:0.00,9.37,2.81:0.00,8.07,2.92:0.00,1.30,-0.11:0.00,0.67,0.00:0.00,0.90,0.00:0.00,0.85,0.00:60,60,60:82.3,18.7,0.0:0,1,0:0,0,0:86,22,107:53,118,44:25,10,0:-,chr2 g.128231971_128231972insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 128238752 . C . . NT END=128244128;NT GT ./. 2 128244241 . C . . NT END=128246754;NT GT ./. 2 128246812 . C . . NT END=128247407;NT GT ./. 2 128247520 . C . . NT END=128249546;NT GT ./. 2 128249665 . C . . NT END=128250856;NT GT ./. 2 128250987 . C . . NT END=128252447;NT GT ./. 2 128252531 . C . . NT END=128253573;NT GT ./. 2 128253571 rs334151 C T 293 nt VT=SNV;PN=T;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.9357,T/0.0643;PC=0.822;Gene=IWS1/NM_017969.2/1;CC=c.1716+3G>A;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:82:66:0:0:1,81:36,2571:0.00,293.21:0.00,188.79:0.00,104.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,40.0:0,0:0,0:12,65:52,79:0,30:NM_017969.2(IWS1) c.1716+3G>A,NM_017969.2(IWS1) c.1716+3G>A:0.08,0.08:0.134246,0.134246 2 128253725 . C . . NT END=128255715;NT GT ./. 2 128254126 . TAC T 9 rn VT=DEL;SST=Single;DP=7;NP=4;PC=0.005;Gene=IWS1/NM_017969.2/1;CC=c.1566-404_1566-403delGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TAC,T:7:5:0:3:4,3:109,97:0.00,9.06:0.00,4.51:0.00,4.55:0.00,0.69:0.00,0.93:0.00,0.89:60,60:34.8,12.0:0,0:0,0:23,24:124,77:15,4:-,NM_017969.2(IWS1) c.1566-404_1566-403delGT:-,NOT_FOUND:-,NOT_FOUND 2 128255814 . C . . NT END=128260390;NT GT ./. 2 128260449 . C . . NT END=128260962;NT GT ./. 2 128261153 . C . . NT END=128262259;NT GT ./. 2 128263329 . C . . NT END=128281251;NT GT ./. 2 128263363 rs72159568 CA C 14 rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=CA/0.9974,C/0.002596;DB;DBA=NA;PAF=CA/0.9974,C/0.002596;NP=67;PC=0.465;Gene=IWS1/NM_017969.2/1;CC=c.151-36delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,CA,I,C:45:16:3:6:3,33,3,6:50,989,102,189:2.28,0.00,7.12,14.47:-0.24,0.00,2.46,5.41:2.52,0.00,4.66,9.07:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.98:60,60,60,60:58.7,20.4,0.0,3.0:1,0,0,0:0,0,0,0:114,121,106,94:37,23,32,56:19,17,16,15:-,NM_017969.2(IWS1) c.151-36delT:-,NOT_FOUND:-,NOT_FOUND 2 128281368 . C . . NT END=128283750;NT GT ./. 2 128284088 . C . . NT END=128284211;NT GT ./. 2 128284261 . T . . NT END=128317297;NT GT ./. 2 128317316 . G . . NT END=128321727;NT GT ./. 2 128321842 . G . . NT END=128322807;NT GT ./. 2 128322961 . G . . NT END=128324217;NT GT ./. 2 128324403 . G . . NT END=128327363;NT GT ./. 2 128327486 . G . . NT END=128331494;NT GT ./. 2 128327569 rs115344891 T G 106 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.9822,G/0.01777;Gene=MYO7B/NM_001080527.1/1;CC=c.592+84T>G;VC=Intron;Gene=LOC105373609/NR_132317.1/0;VC=NonCoding;DM=MYO7B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:9:0:0:28:931:106.45:18.63:87.82:1.00:1.00:1.00:60:54.6:0:0:104:46:27:NM_001080527.1(MYO7B) c.592+84T>G,NM_001080527.1(MYO7B) c.592+84T>G:0.02,0.02:NOT_FOUND,NOT_FOUND 2 128331638 . G . . NT END=128334169;NT GT ./. 2 128334284 . G . . NT END=128335707;NT GT ./. 2 128335862 . G . . NT END=128338320;NT GT ./. 2 128338398 . G . . NT END=128339465;NT GT ./. 2 128339211 rs4662738 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02336,G/0.9766;Gene=MYO7B/NM_001080527.1/1;CC=c.1081-255A>G;VC=Intron;DM=MYO7B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:48.5:0:0:29:121:12:NM_001080527.1(MYO7B) c.1081-255A>G,NM_001080527.1(MYO7B) c.1081-255A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 128339586 . G . . NT END=128339878;NT GT ./. 2 128340022 . G . . NT END=128341696;NT GT ./. 2 128341908 . G . . NT END=128342352;NT GT ./. 2 128342489 . G . . NT END=128345966;NT GT ./. 2 128346131 . G . . NT END=128347666;NT GT ./. 2 128347805 . G . . NT END=128350368;NT GT ./. 2 128350522 . G . . NT END=128351120;NT GT ./. 2 128350578 rs58867441 T TG 167 nt VT=INS;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.02097,TG/0.979;DB;DBA=NA;PAF=T/0.02097,TG/0.979;NP=1092;Gene=MYO7B/NM_001080527.1/1;CC=c.2145+59dupG;VC=Intron;DM=MYO7B/Myosin_head;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:G,T,TG:60:26:50:0:1,9,50:33,276,1541:1.94,0.00,166.97:-0.02,0.00,46.32:1.96,0.00,120.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.0,14.9,6.3:1,0,0:0,0,0:113,147,97:37,3,48:0,1,28:-,NM_001080527.1(MYO7B) c.2145+57_2145+58insG:-,NOT_FOUND:-,NOT_FOUND 2 128350744 rs4662742 C A 40 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.4221,A/0.5779;PC=0.019;Gene=MYO7B/NM_001080527.1/1;CC=c.2145+223C>A;VC=Intron;DM=MYO7B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:A,C:13:1:0:0:12,1:351,6:39.59,0.00:1.72,0.00:37.86,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:70.7,164.0:0,0:0,0:91,15:59,136:29,0:NM_001080527.1(MYO7B) c.2145+223C>A,NM_001080527.1(MYO7B) c.2145+223C>A:0.49,0.49:NOT_FOUND,NOT_FOUND 2 128350808 rs4662743 C T 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3646,T/0.6354;Gene=MYO7B/NM_001080527.1/1;CC=c.2145+287C>T;VC=Intron;DM=MYO7B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:4:0:0:10:285:33.25:12.40:20.86:1.00:1.00:1.00:60:80.5:0:0:71:79:48:NM_001080527.1(MYO7B) c.2145+287C>T,NM_001080527.1(MYO7B) c.2145+287C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 2 128350965 rs4662744 C T 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3926,T/0.6074;Gene=MYO7B/NM_001080527.1/1;CC=c.2146-156C>T;VC=Intron;DM=MYO7B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G,T:18:17:0:0:1,17:5,563:0.12,63.98:0.12,60.32:0.00,3.65:0.00,1.00:0.00,1.00:0.00,0.96:60,60:86.0,49.8:0,0:0,0:23,29:128,122:0,21:NM_001080527.1(MYO7B) c.2146-156C>T,NM_001080527.1(MYO7B) c.2146-156C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 2 128351220 . G . . NT END=128354036;NT GT ./. 2 128351346 rs7558838 T C 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3638,C/0.6362;Gene=MYO7B/NM_001080527.1/1;CC=c.2244+127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:26:1:0:0:26:723:84.24:2.04:82.20:1.00:1.00:1.00:60:40.3:0:0:107:43:25:NM_001080527.1(MYO7B) c.2244+127T>C,NM_001080527.1(MYO7B) c.2244+127T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 2 128354132 . G . . NT END=128363418;NT GT ./. 2 128363504 . G . . NT END=128364780;NT GT ./. 2 128363530 rs397825072 G GC 169 nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3120;Gene=MYO7B/NM_001080527.1/1;CC=c.2424+29dupC;VC=Intron;DM=MYO7B/FERM_M;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:G,GC:49:18:48:0:1,48:35,1485:0.00,169.26:0.00,39.55:0.00,129.71:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,7.3:0,0:0,0:145,87:3,63:0,32:NM_001080527.1(MYO7B) c.2424+27_2424+28insC,NM_001080527.1(MYO7B) c.2424+27_2424+28insC:NOT_FOUND,NOT_FOUND:0.998683,0.998683 2 128365000 . G . . NT END=128366282;NT GT ./. 2 128366272 rs17261971 G A 367 nt VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.9189,A/0.08107;Gene=MYO7B/NM_001080527.1/1;CC=c.2644-11G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:97:82:0:0:96,1:3234,34:366.74,0.00:244.50,0.00:122.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,0.0:0,0:0,0:45,70:95,80:35,0:NM_001080527.1(MYO7B) c.2644-11G>A,NM_001080527.1(MYO7B) c.2644-11G>A:0.08,0.08:0.116587,0.116587 2 128366454 . G . . NT END=128367080;NT GT ./. 2 128366636 rs2252610 G C 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.6795,C/0.3205;Gene=MYO7B/NM_001080527.1/1;CC=c.2814+183G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C,T:23:0:0:0:22,1:685,7:78.46,0.17:0.00,0.00:78.46,0.17:1.00,0.00:0.00,0.00:1.00,0.00:60,60:48.4,28.0:0,0:0,0:100,46:50,105:35,0:NM_001080527.1(MYO7B) c.2814+183G>C,NM_001080527.1(MYO7B) c.2814+183G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 2 128367092 rs777432 G A 325 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.6789,A/0.3211;Gene=MYO7B/NM_001080527.1/1;CC=c.2826G>A;ProtCh=p.S942=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:86:76:0:0:86:2839:324.86:222.29:102.58:1.00:1.00:1.00:60:36.8:0:0:46:87:30:NM_001080527.1(MYO7B) c.2826G>A (p.(=)),NM_001080527.1(MYO7B) c.2826G>A (p.(=)):0.29,0.29:0.349655,0.349655 2 128367291 . G . . NT END=128367423;NT GT ./. 2 128367359 rs58719465 G A 318 nt VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.9269,A/0.07308;PC=0.039;Gene=MYO7B/NM_001080527.1/1;CC=c.3025-65G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:88:53:0:0:88:2760:317.76:165.89:151.87:1.00:1.00:1.00:60:40.8:0:0:66:84:42:NM_001080527.1(MYO7B) c.3025-65G>A,NM_001080527.1(MYO7B) c.3025-65G>A:0.08,0.08:NOT_FOUND,NOT_FOUND 2 128367592 . G . . NT END=128370050;NT GT ./. 2 128369896 rs777435 A G 116 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.3385,G/0.6615;PC=0.005;Gene=MYO7B/NM_001080527.1/1;CC=c.3193-155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A,G:36:36:0:0:1,35:13,1016:0.00,116.26:0.00,116.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:163.0,39.9:0,0:0,0:133,51:15,100:0,35:NM_001080527.1(MYO7B) c.3193-155A>G,NM_001080527.1(MYO7B) c.3193-155A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 2 128370179 . G . . NT END=128377914;NT GT ./. 2 128377833 rs2248519 C G 189 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.3371,G/0.6629;Gene=MYO7B/NM_001080527.1/1;CC=c.3321-82C>G;VC=Intron;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:G:50:44:0:0:50:1657:189.41:144.22:45.18:1.00:1.00:1.00:60:74.3:0:0:39:107:23:NM_001080527.1(MYO7B) c.3321-82C>G,NM_001080527.1(MYO7B) c.3321-82C>G:0.58,0.58:NOT_FOUND,NOT_FOUND 2 128377842 rs77159371 T C 206 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.9351,C/0.0649;Gene=MYO7B/NM_001080527.1/1;CC=c.3321-73T>C;VC=Intron;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:C,T:56:49:0:0:55,1:1824,32:206.44,0.00:155.39,0.00:51.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.4,35.0:0,0:0,0:47,23:99,128:28,0:NM_001080527.1(MYO7B) c.3321-73T>C,NM_001080527.1(MYO7B) c.3321-73T>C:0.07,0.07:NOT_FOUND,NOT_FOUND 2 128378042 . G . . NT END=128379556;NT GT ./. 2 128378136 rs2245727 A C 232 nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.6342,C/0.3658;Gene=MYO7B/NM_001080527.1/1;CC=c.3447+95A>C;VC=Intron;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:174:C,T:65:21:0:0:64,1:2021,10:232.05,0.14:48.99,0.14:183.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.6,78.0:0,0:0,0:105,125:37,26:22,0:NM_001080527.1(MYO7B) c.3447+95A>C,NM_001080527.1(MYO7B) c.3447+95A>C:0.32,0.32:NOT_FOUND,NOT_FOUND 2 128379563 rs61744148 C G 375 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.9353,G/0.0647;PC=1.000;Gene=MYO7B/NM_001080527.1/1;CC=c.3454C>G;ProtCh=p.L1152V;VC=Missense;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:99:83:0:0:1,98:12,3299:0.00,374.62:0.00,226.44:0.00,148.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,39.0:0,0:0,0:131,61:3,90:0,35:NM_001080527.1(MYO7B) c.3454C>G (p.Leu1152Val),NM_001080527.1(MYO7B) c.3454C>G (p.Leu1152Val):0.07,0.07:0.083161,0.083161 2 128379677 . G . . NT END=128380776;NT GT ./. 2 128380951 . G . . NT END=128381667;NT GT ./. 2 128381154 rs10174611 G A 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.647,A/0.353;Gene=MYO7B/NM_001080527.1/1;CC=c.3741+204G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:354:40.62:0.00:40.62:1.00:0.00:1.00:60:50.1:0:0:134:17:8:NM_001080527.1(MYO7B) c.3741+204G>A,NM_001080527.1(MYO7B) c.3741+204G>A:0.31,0.31:NOT_FOUND,NOT_FOUND 2 128381808 rs13422424 C T 344 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=C/0.8371,T/0.1629;PC=0.324;Gene=MYO7B/NM_001080527.1/1;CC=c.3882C>T;ProtCh=p.H1294=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:92:60:0:0:92:3005:344.34:153.11:191.23:1.00:1.00:1.00:60:39.4:0:0:70:75:41:NM_001080527.1(MYO7B) c.3882C>T (p.(=)),NM_001080527.1(MYO7B) c.3882C>T (p.(=)):0.14,0.14:0.151086,0.151086 2 128381896 . G . . NT END=128382942;NT GT ./. 2 128382859 rs2245297 C T 163 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.3299,T/0.6701;Gene=MYO7B/NM_001080527.1/1;CC=c.3970-84C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:T:43:41:0:0:43:1425:162.96:143.36:19.60:1.00:1.00:1.00:60:43.6:0:0:52:99:34:NM_001080527.1(MYO7B) c.3970-84C>T,NM_001080527.1(MYO7B) c.3970-84C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 2 128383111 . G . . NT END=128384549;NT GT ./. 2 128383174 rs76503952 T C 219 nt VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.9347,C/0.0653;Gene=MYO7B/NM_001080527.1/1;CC=c.4137+64T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C,T:65:22:0:0:64,1:1909,29:218.81,0.00:46.47,0.00:172.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,0.0:0,0:0,0:103,10:41,141:25,0:NM_001080527.1(MYO7B) c.4137+64T>C,NM_001080527.1(MYO7B) c.4137+64T>C:0.07,0.07:NOT_FOUND,NOT_FOUND 2 128383366 rs13391628 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8329,C/0.1671;Gene=MYO7B/NM_001080527.1/1;CC=c.4137+256T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:186:21.46:0.00:21.46:1.00:0.00:1.00:60:33.8:0:0:102:48:27:NM_001080527.1(MYO7B) c.4137+256T>C,NM_001080527.1(MYO7B) c.4137+256T>C:0.15,0.15:NOT_FOUND,NOT_FOUND 2 128384668 . G . . NT END=128384758;NT GT ./. 2 128384886 . G . . NT END=128385946;NT GT ./. 2 128384940 . T G 13 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;PC=0.006;Gene=MYO7B/NM_001080527.1/1;CC=c.4382+55T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:G,T:45:19:0:0:10,35:190,1140:13.45,0.00:-2.02,0.00:15.46,0.00:0.99,0.00:0.98,0.00:0.99,0.00:60,60:107.6,8.9:0,0:0,0:68,120:77,31:12,18:NM_001080527.1(MYO7B) c.4382+55T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 128384958 rs530193002 T G 9 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1;Gene=MYO7B/NM_001080527.1/1;CC=c.4382+73T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:G,T:37:17:0:0:10,27:137,787:9.09,0.00:-2.12,0.00:11.20,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:105.1,21.4:0,0:0,0:86,125:59,26:16,13:NM_001080527.1(MYO7B) c.4382+73T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 128385224 rs10164978 C G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6524,G/0.3476;Gene=MYO7B/NM_001080527.1/1;CC=c.4382+339C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:140:15.91:0.00:15.91:1.00:0.00:1.00:60:72.8:0:0:97:53:12:NM_001080527.1(MYO7B) c.4382+339C>G,NM_001080527.1(MYO7B) c.4382+339C>G:0.31,0.31:NOT_FOUND,NOT_FOUND 2 128385244 rs58961411 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8305,C/0.1695;PC=0.006;Gene=MYO7B/NM_001080527.1/1;CC=c.4382+359T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:72.8:0:0:117:33:12:NM_001080527.1(MYO7B) c.4382+359T>C,NM_001080527.1(MYO7B) c.4382+359T>C:0.16,0.16:NOT_FOUND,NOT_FOUND 2 128386111 . G . . NT END=128387219;NT GT ./. 2 128386120 rs561520232 TGGGTG T 123 sb,rn VT=DEL;SST=Single;DP=87;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=176;PC=0.006;Gene=MYO7B/NM_001080527.1/1;CC=c.4546+39_4546+43delTGGGG;VC=Intron;DM=MYO7B/SH3_2;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TGGGTG,T:87:71:0:42:1,45,41:11,1435,1297:-0.08,0.00,123.43:-0.13,0.00,128.13:0.06,0.00,-4.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:215.0,10.5,7.2:0,0,0:0,0,0:129,136,85:21,13,62:0,5,13:-,NM_001080527.1(MYO7B) c.4546+11_4546+15delGGGTG:-,NOT_FOUND:-,NOT_FOUND 2 128387402 . G . . NT END=128388352;NT GT ./. 2 128388484 . G . . NT END=128388780;NT GT ./. 2 128388939 . A . . NT END=128389174;NT GT ./. 2 128389329 . G . . NT END=128389820;NT GT ./. 2 128389343 rs10208043 C T 366 nt VT=SNV;PN=G;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.5937,T/0.4063;PC=0.011;Gene=MYO7B/NM_001080527.1/1;CC=c.5171+15C>T;VC=Intron;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:99:50:0:0:99:3189:366.05:115.56:250.49:1.00:1.00:1.00:60:51.0:0:0:92:54:30:NM_001080527.1(MYO7B) c.5171+15C>T,NM_001080527.1(MYO7B) c.5171+15C>T:0.36,0.36:0.397858,0.397858 2 128389422 rs10183797 G C 180 nt VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.5901,C/0.4099;Gene=MYO7B/NM_001080527.1/1;CC=c.5171+94G>C;VC=Intron;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A,C:55:11:0:0:1,54:11,1551:0.21,179.90:0.00,24.50:0.21,155.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:137.0,64.4:0,0:0,0:91,126:43,23:0,16:NM_001080527.1(MYO7B) c.5171+94G>C,NM_001080527.1(MYO7B) c.5171+94G>C:0.36,0.36:NOT_FOUND,NOT_FOUND 2 128389624 rs10186397 G A 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5903,A/0.4097;Gene=MYO7B/NM_001080527.1/1;CC=c.5172-197G>A;VC=Intron;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:12:0:0:13:401:46.26:42.89:3.38:1.00:1.00:1.00:60:42.2:0:0:30:121:24:NM_001080527.1(MYO7B) c.5172-197G>A,NM_001080527.1(MYO7B) c.5172-197G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 2 128389977 . G . . NT END=128390832;NT GT ./. 2 128390689 rs2009707 A G 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3279,G/0.6721;Gene=MYO7B/NM_001080527.1/1;CC=c.5328-144A>G;VC=Intron;DM=MYO7B/MyTH4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:459:53.05:53.05:0.00:1.00:1.00:0.00:60:40.5:0:0:24:126:19:NM_001080527.1(MYO7B) c.5328-144A>G,NM_001080527.1(MYO7B) c.5328-144A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 128390939 . G . . NT END=128391750;NT GT ./. 2 128391865 . G . . NT END=128392170;NT GT ./. 2 128392259 . G . . NT END=128392694;NT GT ./. 2 128392468 rs4662749 A G 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3185,G/0.6815;Gene=MYO7B/NM_001080527.1/1;CC=c.5635+210A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:5:0:0:8:237:27.51:16.78:10.73:1.00:1.00:1.00:60:70.0:0:0:67:83:24:NM_001080527.1(MYO7B) c.5635+210A>G,NM_001080527.1(MYO7B) c.5635+210A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 2 128392547 rs4662750 A C 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.3123,C/0.6877;Gene=MYO7B/NM_001080527.1/1;CC=c.5636-148A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:16:0:0:18:581:66.64:57.45:9.19:1.00:1.00:1.00:60:54.4:0:0:36:112:27:NM_001080527.1(MYO7B) c.5636-148A>C,NM_001080527.1(MYO7B) c.5636-148A>C:0.61,0.61:NOT_FOUND,NOT_FOUND 2 128392688 rs13391954 C T 197 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.9507,T/0.04932;PC=0.007;Gene=MYO7B/NM_001080527.1/1;CC=c.5636-7C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:41:0:0:52:1719:196.69:112.94:83.75:1.00:1.00:1.00:60:43.5:0:0:59:82:23:NM_001080527.1(MYO7B) c.5636-7C>T,NM_001080527.1(MYO7B) c.5636-7C>T:0.06,0.06:0.086844,0.086844 2 128392802 . G . . NT END=128393296;NT GT ./. 2 128393261 rs2255178 T C 342 nt VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.3249,C/0.6751;PC=0.001;Gene=MYO7B/NM_001080527.1/1;CC=c.5743-36T>C;VC=Intron;DM=MYO7B/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:82:0:0:96:2967:342.41:238.81:103.59:1.00:1.00:1.00:60:38.5:0:0:62:85:30:NM_001080527.1(MYO7B) c.5743-36T>C,NM_001080527.1(MYO7B) c.5743-36T>C:0.6,0.6:0.687844,0.687844 2 128393483 . G . . NT END=128393782;NT GT ./. 2 128393900 . G . . NT END=128394119;NT GT ./. 2 128394204 . G . . NT END=128394368;NT GT ./. 2 128394489 . G . . NT END=128394890;NT GT ./. 2 128394758 rs2255039 T C 59 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.5491,A/.,C/0.4509;Gene=MYO7B/NM_001080527.1/1;CC=c.6250-133T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:13:0:0:17:512:59.26:45.65:13.61:1.00:1.00:1.00:60:40.2:0:0:38:112:18:NM_001080527.1(MYO7B) c.6250-133T>C,NM_001080527.1(MYO7B) c.6250-133T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 2 128394877 rs56272236 C T,CT 128 idl;end,nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.3289,CCT/.,CT/0.3187,CTGTCCCCT/.;DB;DBA=NA;PAF=C/0.3289,T/0.3524;NP=1;NP=811 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:65:C,T,CT:43:34:36:0:2,5,36:56,151,1152:0.00,12.71,128.00:0.00,5.38,74.51:0.00,7.33,53.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:42.5,54.0,4.4:0,0,0:0,0,0:149,4,29:1,147,111:1,3,18:NM_001080527.1(MYO7B) c.6250-14C>T,NM_001080527.1(MYO7B) c.6250-14_6250-13insT:NOT_FOUND,0.6:NOT_FOUND,0.655433 2 128394993 . C . . NT END=128396855;NT GT ./. 2 128395197 rs75931810 G A 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9291,A/0.07089;Gene=MYO7B/NM_001080527.1/1;CC=c.*205G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:111:12.97:0.00:12.97:1.00:0.00:1.00:60:63.2:0:0:102:49:30:NM_001080527.1(MYO7B) c.*205G>A,NM_001080527.1(MYO7B) c.*205G>A:0.07,0.07:NOT_FOUND,NOT_FOUND 2 128396807 rs891515 A G 236 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.4153,G/0.5847;Gene=LIMS2/NM_001256542.1/0;CC=c.*49T>C;VC=3UTR;Gene=LIMS2/NM_017980.4/0;CC=c.*49T>C;VC=3UTR;Gene=LIMS2/NM_001136037.2/0;CC=c.*49T>C;VC=3UTR;Gene=LIMS2/NM_001161403.1/0;CC=c.*49T>C;VC=3UTR;Gene=LIMS2/NM_001161404.1/1;CC=c.*49T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:185:A,G:69:61:0:0:1,68:11,2053:0.00,235.73:0.00,174.41:0.00,61.32:0.00,1.00:0.00,1.00:0.00,1.00:40,60:160.0,41.1:0,0:0,0:101,49:31,97:0,28:NM_017980.4(LIMS2) c.*49T>C,NM_017980.4(LIMS2) c.*49T>C:0.52,0.52:0.600108,0.600108 2 128397004 . C . . NT END=128397644;NT GT ./. 2 128397418 rs2254680 T C 16 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3151,C/0.6849;Gene=LIMS2/NM_001256542.1/0;CC=c.422+227A>G;VC=Intron;Gene=LIMS2/NM_017980.4/0;CC=c.950+227A>G;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.944+227A>G;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.878+227A>G;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.863+227A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:4:0:0:5:142:16.49:15.41:1.08:1.00:1.00:1.00:60:50.6:0:0:51:100:12:NM_017980.4(LIMS2) c.950+227A>G,NM_017980.4(LIMS2) c.950+227A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 2 128397721 . C . . NT END=128397844;NT GT ./. 2 128397894 . C . . NT END=128398470;NT GT ./. 2 128398564 . C . . NT END=128399623;NT GT ./. 2 128399414 rs13419955 G A 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.7857,A/0.2143;Gene=LIMS2/NM_001256542.1/0;CC=c.204+210C>T;VC=Intron;Gene=LIMS2/NM_017980.4/0;CC=c.732+210C>T;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.726+210C>T;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.660+210C>T;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.645+210C>T;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:18:0:0:18:569:65.44:65.44:0.00:1.00:1.00:0.00:60:55.2:0:0:47:102:19:NM_017980.4(LIMS2) c.732+210C>T,NM_017980.4(LIMS2) c.732+210C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 2 128399775 . C . . NT END=128400497;NT GT ./. 2 128400608 rs4662751 C T 401 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.4549,T/0.5451;PC=0.999;Gene=LIMS2/NM_001256542.1/0;CC=c.-58G>A;VC=5UTR;Gene=LIMS2/NM_017980.4/0;CC=c.471G>A;ProtCh=p.K157=;VC=Silent;Gene=LIMS2/NM_001136037.2/0;CC=c.465G>A;ProtCh=p.K155=;VC=Silent;Gene=LIMS2/NM_001161403.1/0;CC=c.399G>A;ProtCh=p.K133=;VC=Silent;Gene=LIMS2/NM_001161404.1/1;CC=c.384G>A;ProtCh=p.K128=;VC=Silent;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:107:72:0:0:107:3496:400.51:195.99:204.53:1.00:1.00:1.00:60:36.9:0:0:92:58:35:NM_017980.4(LIMS2) c.471G>A (p.(=)),NM_017980.4(LIMS2) c.471G>A (p.(=)):0.6,0.6:0.506397,0.506397 2 128400648 . C . . NT END=128405611;NT GT ./. 2 128400783 rs2244612 G A 128 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.523,A/0.477;Gene=LIMS2/NM_001256542.1/0;CC=c.-97-136C>T;VC=Intron;Gene=LIMS2/NM_017980.4/0;CC=c.432-136C>T;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.426-136C>T;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.360-136C>T;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.345-136C>T;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A,C:38:3:0:0:37,1:1105,27:127.65,1.60:6.88,0.00:120.77,1.60:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,87.0:0,0:0,0:91,142:60,9:30,0:NM_017980.4(LIMS2) c.432-136C>T,NM_017980.4(LIMS2) c.432-136C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 2 128405353 rs11677393 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6787,A/0.3213;Gene=LIMS2/NM_001256542.1/0;CC=c.-98+259C>T;VC=Intron;Gene=LIMS2/NM_017980.4/0;CC=c.432-4706C>T;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.426-4706C>T;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.360-4706C>T;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.345-4706C>T;VC=Intron;Gene=GPR17/NM_001161415.1/1;CC=c.-230-280G>A;VC=Intron;Gene=GPR17/NM_001161416.1/0;CC=c.-249-280G>A;VC=Intron;Gene=GPR17/NM_001161417.1/0;CC=c.-21+1534G>A;VC=Intron;Gene=GPR17/NM_005291.2/0;CC=c.-2+1534G>A;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:196:22.46:22.46:0.00:1.00:1.00:0.00:60:75.0:0:0:57:93:33:NM_017980.4(LIMS2) c.432-4706C>T,NM_017980.4(LIMS2) c.432-4706C>T:0.3,0.3:NOT_FOUND,NOT_FOUND 2 128405721 rs3796082 T C 330 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.6689,C/0.3311;PC=0.004;Gene=LIMS2/NM_001256542.1/0;CC=c.-207A>G;VC=5UTR;Gene=LIMS2/NM_017980.4/0;CC=c.432-5074A>G;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.426-5074A>G;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.360-5074A>G;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.345-5074A>G;VC=Intron;Gene=GPR17/NM_001161415.1/1;CC=c.-142T>C;VC=5UTR;Gene=GPR17/NM_001161416.1/0;CC=c.-161T>C;VC=5UTR;Gene=GPR17/NM_001161417.1/0;CC=c.-21+1902T>C;VC=Intron;Gene=GPR17/NM_005291.2/0;CC=c.-1-1865T>C;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:88:59:0:0:1,87:10,2887:0.11,329.65:0.00,152.04:0.11,177.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,41.2:0,0:0,0:15,86:135,57:0,39:NM_001161415.1(GPR17) c.-142T>C,NM_001161415.1(GPR17) c.-142T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 2 128405829 . G . . NT END=128407586;NT GT ./. 2 128407651 . G . . NT END=128408289;NT GT ./. 2 128408121 . G GC 51 nt VT=INS;SST=Single;DP=16;NP=1570;NP=6;Gene=LIMS2/NM_017980.4/0;CC=c.431+3876_431+3877insG;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.425+3876_425+3877insG;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.359+3876_359+3877insG;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.344+3876_344+3877insG;VC=Intron;Gene=GPR17/NM_001161415.1/1;CC=c.65-169_65-168insC;VC=Intron;Gene=GPR17/NM_001161416.1/0;CC=c.-20-169_-20-168insC;VC=Intron;Gene=GPR17/NM_001161417.1/0;CC=c.-20-169_-20-168insC;VC=Intron;Gene=GPR17/NM_005291.2/0;CC=c.65-169_65-168insC;VC=Intron;DM=LIMS2/LIM;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C,GC:16:16:15:0:1,15:25,441:1.78,50.82:1.78,50.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:78.0,7.7:1,0:0,0:66,42:85,109:0,32:NM_001161415.1(GPR17) c.65-169_65-168insC,NM_001161415.1(GPR17) c.65-169_65-168insC:1,1:NOT_FOUND,NOT_FOUND 2 128409330 . G . . NT END=128411997;NT GT ./. 2 128411934 rs6707277 A G 245 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.1254,G/0.8746;Gene=LIMS2/NM_017980.4/0;CC=c.431+64T>C;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.425+64T>C;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.359+64T>C;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.344+64T>C;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:61:0:0:68:2126:244.94:178.90:66.05:1.00:1.00:1.00:60:67.8:0:0:55:88:36:NM_017980.4(LIMS2) c.431+64T>C,NM_017980.4(LIMS2) c.431+64T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 128411950 rs6707282 A G 303 nt VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.1246,G/0.8754;Gene=LIMS2/NM_017980.4/0;CC=c.431+48T>C;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.425+48T>C;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.359+48T>C;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.344+48T>C;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:75:0:0:85:2627:303.05:203.02:100.02:1.00:1.00:1.00:60:61.3:0:0:42:107:30:NM_017980.4(LIMS2) c.431+48T>C,NM_017980.4(LIMS2) c.431+48T>C:0.88,0.88:0.84461,0.84461 2 128412119 . C . . NT END=128412403;NT GT ./. 2 128412471 . C . . NT END=128414976;NT GT ./. 2 128415137 . C . . NT END=128421879;NT GT ./. 2 128421829 rs79110686 G A 147 nt VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.6532,A/0.3468;PC=0.018;Gene=LIMS2/NM_017980.4/0;CC=c.83+51C>T;VC=Intron;Gene=LIMS2/NM_001136037.2/0;CC=c.78-6693C>T;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.12-6693C>T;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.-4-6693C>T;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:78:0:0:47,37:1497,1163:147.09,0.00:107.59,0.00:39.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,4.2:0,0:0,0:30,29:116,119:22,16:NM_017980.4(LIMS2) c.83+51C>T,-:0.42,-:NOT_FOUND,- 2 128422168 . A . . NT END=128431251;NT GT ./. 2 128431188 rs6430942 A G 70 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.6146,G/0.3854;Gene=LIMS2/NM_001136037.2/0;CC=c.77+64T>C;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.11+1400T>C;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.-5+7706T>C;VC=Intron;DM=LIMS2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:38:0:0:21,22:698,721:0.00,69.65:0.00,54.95:0.00,14.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,39.0:0,0:0,0:36,38:112,102:17,29:-,NM_001136037.2(LIMS2) c.77+64T>C:-,0.32:-,0.343846 2 128431318 . C . . NT END=128432194;NT GT ./. 2 128432242 rs149628621 AC A 154 PASS VT=DEL;SST=Single;DP=110;DB;DBA=NA;PAF=AC/0.9511,A/0.04892;NP=4;Gene=LIMS2/NM_001136037.2/0;CC=c.11+345delG;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.11+345delG;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.-5+6651delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:110:91:0:52:58,52:1901,1623:0.00,154.05:0.00,89.20:0.00,64.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,5.2:0,0:0,0:66,59:73,75:30,36:-,NM_001136037.2(LIMS2) c.11+345delG:-,0.05:-,NOT_FOUND 2 128432511 rs140650322 C T 158 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.9609,T/0.03914;Gene=LIMS2/NM_001136037.2/0;CC=c.11+77G>A;VC=Intron;Gene=LIMS2/NM_001161403.1/0;CC=c.11+77G>A;VC=Intron;Gene=LIMS2/NM_001161404.1/1;CC=c.-5+6383G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:121:76:0:0:70,51:2170,1693:0.00,157.93:0.00,71.13:0.00,86.80:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.9,42.6:0,0:0,0:81,82:66,69:31,36:-,NM_001136037.2(LIMS2) c.11+77G>A:-,0.06:-,NOT_FOUND 2 128432523 . G . . NT END=128432587;NT GT ./. 2 128432599 . G . . NT END=128459102;NT GT ./. 2 128432620 rs531608626 TGGGTTGCCG T 50 nt VT=DEL;SST=Single;DP=86;DB;DBA=NA;PAF=TGGGTTGCCG/0.9509,T/0.04912;NP=23;PC=0.011;Gene=LIMS2/NM_001136037.2/0;CC=c.-31_-23delCGGCAACCC;VC=5UTR;Gene=LIMS2/NM_001161403.1/0;CC=c.-31_-23delCGGCAACCC;VC=5UTR;Gene=LIMS2/NM_001161404.1/1;CC=c.-5+6265_-5+6273delCGGCAACCC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TGGGTTGCCG,T:86:42:0:22:1,66,19:22,2181,609:0.48,0.00,50.36:-0.10,0.00,17.78:0.58,0.00,32.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:41.0,14.2,5.8:0,0,0:0,0,0:42,97,83:109,51,63:0,35,22:-,NM_001136037.2(LIMS2) c.-40CGGCAACCC[1]:-,NOT_FOUND:-,0.057544 2 128459039 rs1048211 A G 185 nt VT=SNV;PN=A;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=A/0.5717,G/0.4283;Gene=SFT2D3/NM_032740.3/1;CC=c.-64A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:122:110:0:0:65,57:2031,1941:0.00,184.70:0.00,151.26:0.00,33.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,41.4:0,0:0,0:45,46:104,102:26,31:-,NM_032740.3(SFT2D3) c.-64A>G:-,0.37:-,NOT_FOUND 2 128459214 rs10206957 C G 376 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=281;DB;DBA=NA;PAF=C/0.5577,G/0.4423;PC=0.984;Gene=SFT2D3/NM_032740.3/1;CC=c.112C>G;ProtCh=p.R38G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:281:203:0:0:153,128:4669,3989:0.00,375.72:0.00,208.92:0.00,166.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,36.9:0,0:0,0:75,67:68,83:31,33:-,NM_032740.3(SFT2D3) c.112C>G (p.Arg38Gly):-,0.38:-,NOT_FOUND 2 128459751 . G . . NT END=128463896;NT GT ./. 2 128464116 rs34550770 G A 96 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.9619,A/0.03814;PC=1.000;Gene=WDR33/NM_018383.4/1;CC=c.3792C>T;ProtCh=p.G1264=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:84:33:0:0:35,1,47,1:1039,9,1518,10:96.24,-0.15,0.00,-0.13:32.42,-0.06,0.00,-0.06:63.82,-0.09,0.00,-0.07:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:38.8,9.0,5.7,35.0:0,0,0,0:0,0,0,0:93,119,102,113:49,32,40,38:24,0,33,0:NM_018383.4(WDR33) c.3792C>T (p.(=)),-:0.05,-:0.068507,- 2 128464127 . C . . NT END=128466250;NT GT ./. 2 128466467 . C . . NT END=128467063;NT GT ./. 2 128466785 rs2533424 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3303,A/0.6697;PC=0.128;Gene=WDR33/NM_018383.4/1;CC=c.3565+279C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:9:4:0:0:4,5:132,148:12.43,0.00:6.24,0.00:6.19,0.00:0.85,0.00:0.91,0.00:0.94,0.00:60,60:33.0,24.6:0,0:0,0:99,81:51,70:29,0:NM_018383.4(WDR33) c.3565+279C>T,-:0.59,-:NOT_FOUND,- 2 128467157 . C . . NT END=128467266;NT GT ./. 2 128467431 . C . . NT END=128471156;NT GT ./. 2 128467473 rs72846240 T C 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.9619,C/0.03814;Gene=WDR33/NM_018383.4/1;CC=c.3309-43A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:17:0:0:28,45:943,1430:86.56,0.00:16.96,0.00:69.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,12.3:0,0:0,0:113,93:31,56:21,31:NM_018383.4(WDR33) c.3309-43A>G,-:0.05,-:0.046793,- 2 128471596 . C . . NT END=128474728;NT GT ./. 2 128474838 . C . . NT END=128476838;NT GT ./. 2 128474887 rs3771293 C T 93 nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.7877,T/0.2123;Gene=WDR33/NM_018383.4/1;CC=c.2761-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:49:16:0:0:19,30:622,931:0.00,93.14:0.00,19.50:0.00,73.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,35.2:0,0:0,0:95,98:54,51:23,34:-,NM_018383.4(WDR33) c.2761-50G>A:-,0.19:-,0.161461 2 128477928 . C . . NT END=128479409;NT GT ./. 2 128479230 rs72846245 A T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.889,T/0.111;Gene=WDR33/NM_018383.4/1;CC=c.1671+180T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,T:16:16:0:0:13,3:384,98:0.00,7.88:0.00,7.88:0.00,0.00:0.00,0.54:0.00,0.54:0.00,0.00:60,60:10.4,32.7:0,0:0,0:46,33:105,117:18,22:-,NM_018383.4(WDR33) c.1671+180T>A:-,0.12:-,NOT_FOUND 2 128479563 . C . . NT END=128480164;NT GT ./. 2 128480305 . C . . NT END=128480531;NT GT ./. 2 128480619 . C . . NT END=128480826;NT GT ./. 2 128480922 . C . . NT END=128481906;NT GT ./. 2 128482018 . C . . NT END=128482460;NT GT ./. 2 128482540 . C . . NT END=128482634;NT GT ./. 2 128482790 . C . . NT END=128484224;NT GT ./. 2 128484352 . C . . NT END=128492953;NT GT ./. 2 128495629 . C . . NT END=128520059;NT GT ./. 2 128495645 rs6754215 G A 80 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.4904,A/0.5096,C/.;Gene=WDR33/NM_018383.4/1;CC=c.725-11294C>T;VC=Intron;Gene=WDR33/NM_001006623.2/0;CC=c.725-17C>T;VC=Intron;DM=WDR33/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:20:0:0:25,24:830,776:80.16,0.00:26.51,0.00:53.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.9,3.0:0,0:0,0:93,84:55,65:26,25:NM_018383.4(WDR33) c.725-11294C>T,-:0.45,-:0.47278,- 2 128520143 rs11285061 CT C 144 PASS VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=CT/0.8205,C/0.1795;NP=183;PC=0.005;Gene=WDR33/NM_018383.4/1;CC=c.724+492delA;VC=Intron;Gene=WDR33/NM_001006623.2/0;CC=c.724+492delA;VC=Intron;Gene=WDR33/NM_001006622.2/0;CC=c.*1903delA;VC=3UTR;DM=WDR33/WD40;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:71:49:0:45:26,45:844,1427:0.00,143.92:0.00,107.15:0.00,36.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,5.2:0,0:0,0:107,61:41,88:31,35:-,NM_018383.4(WDR33) c.724+492delA:-,0.16:-,NOT_FOUND 2 128520547 rs6731093 G A 159 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.5807,A/0.4193;PC=1.000;Gene=WDR33/NM_018383.4/1;CC=c.724+89C>T;VC=Intron;Gene=WDR33/NM_001006623.2/0;CC=c.724+89C>T;VC=Intron;Gene=WDR33/NM_001006622.2/0;CC=c.*1500C>T;VC=3UTR;DM=WDR33/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:101:60:0:0:52,49:1642,1546:158.55,0.00:62.54,0.00:96.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,4.1:0,0:0,0:84,56:61,95:37,43:NM_018383.4(WDR33) c.724+89C>T,-:0.35,-:NOT_FOUND,- 2 128522554 . C . . NT END=128522747;NT GT ./. 2 128522844 . C . . NT END=128525762;NT GT ./. 2 128525868 . C . . NT END=128526506;NT GT ./. 2 128526576 . C . . NT END=128528351;NT GT ./. 2 128526579 rs200939041 T TTAAA 60 idl,rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=1.000;Gene=WDR33/NM_018383.4/1;CC=c.205-5_205-4insTTTA;VC=Intron;Gene=WDR33/NM_001006623.2/0;CC=c.205-5_205-4insTTTA;VC=Intron;Gene=WDR33/NM_001006622.2/0;CC=c.205-5_205-4insTTTA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTAAA,D:32:27:27:1:12,19,1:363,828,33:0.00,59.56,2.05:0.00,26.37,1.01:0.00,33.19,1.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:10.0,11.1,0.0:0,8,0:0,0,0:108,60,103:23,79,48:35,15,0:-,NM_018383.4(WDR33) c.205-5_205-4insTTTA:-,NOT_FOUND:-,NOT_FOUND 2 128528266 rs199542752 AAAATAAATAAAT A 79 sb;idl,nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=42;PC=0.078;Gene=WDR33/NM_018383.4/1;CC=c.204+74_204+85delATTTATTTATTT;VC=Intron;Gene=WDR33/NM_001006623.2/0;CC=c.204+74_204+85delATTTATTTATTT;VC=Intron;Gene=WDR33/NM_001006622.2/0;CC=c.204+74_204+85delATTTATTTATTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:AAAATAAATAAAT,A:28:31:0:27:4,24:110,825:0.00,78.56:0.00,77.10:0.00,1.46:0.00,1.00:0.00,1.00:0.00,0.96:60,70:36.8,7.3:0,3:0,0:126,38:18,113:12,21:-,NM_018383.4(WDR33) c.204+74_204+85delATTTATTTATTT:-,NOT_FOUND:-,NOT_FOUND 2 128528556 . G . . NT END=128605680;NT GT ./. 2 128605760 . C . . NT END=128608163;NT GT ./. 2 128608184 rs11556864 C T 55 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8938,T/0.1062;PC=1.000;Gene=POLR2D/NM_004805.3/1;CC=c.330G>A;ProtCh=p.E110=;VC=Silent;DM=POLR2D/RNA_pol_Rpb4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:28:0:0:20,19:640,578:0.00,55.10:0.00,28.76:0.00,26.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,42.2:0,0:0,0:58,70:88,80:29,50:-,NM_004805.3(POLR2D) c.330G>A (p.(=)):-,0.11:-,0.080117 2 128608260 . c . . NT END=128610498;NT GT ./. 2 128608271 rs34858843 GA G 39 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1172;Gene=POLR2D/NM_004805.3/1;CC=c.255-13delT;VC=Intron;DM=POLR2D/RNA_pol_Rpb4;DM=POLR2D/RNA_pol_Rpb4;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:29:14:1:14:15,1,13:397,31,411:0.00,1.89,38.93:0.00,-0.08,13.33:0.00,1.97,25.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.4,49.0,56.2:0,0,0:0,0,0:108,113,88:31,37,59:23,0,23:-,NM_004805.3(POLR2D) c.255-13delT:-,NOT_FOUND:-,NOT_FOUND 2 128608290 rs6713679 T C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.4359,C/0.5641;Gene=POLR2D/NM_004805.3/1;CC=c.255-31A>G;VC=Intron;DM=POLR2D/RNA_pol_Rpb4;DM=POLR2D/RNA_pol_Rpb4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:11:0:0:14,12:455,372:44.35,0.00:15.43,0.00:28.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.8,22.0:0,0:0,0:86,125:54,20:21,13:NM_004805.3(POLR2D) c.255-31A>G,-:0.49,-:0.565844,- 2 128610680 . C . . NT END=128615339;NT GT ./. 2 128615330 rs13032850 C G 107 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.6438,G/0.3562;PC=0.003;Gene=POLR2D/NM_004805.3/1;CC=c.73+272G>C;VC=Intron;DM=POLR2D/RNA_pol_Rpb4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:64:59:0:0:30,34:972,1095:0.00,106.50:0.00,92.81:0.00,13.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,69.0:0,0:0,0:26,36:124,114:20,31:-,NM_004805.3(POLR2D) c.73+272G>C:-,0.31:-,NOT_FOUND 2 128615390 rs13031513 G T 190 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.6444,T/0.3556;Gene=POLR2D/NM_004805.3/1;CC=c.73+212C>A;VC=Intron;DM=POLR2D/RNA_pol_Rpb4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:113:95:0:0:55,58:1749,1961:0.00,189.78:0.00,149.25:0.00,40.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.1,54.1:0,0:0,0:45,57:103,93:25,25:-,NM_004805.3(POLR2D) c.73+212C>A:-,0.31:-,NOT_FOUND 2 128615500 rs116376815 A G 237 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=183;DB;DBA=NA;PAF=A/0.9571,G/0.04293;Gene=POLR2D/NM_004805.3/1;CC=c.73+102T>C;VC=Intron;DM=POLR2D/RNA_pol_Rpb4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:183:133:0:0:99,1,83:3116,11,2525:0.00,-0.15,237.38:0.00,-0.05,127.40:0.00,-0.10,109.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.6,70.0,37.3:0,0,0:0,0,0:71,90,53:74,57,96:40,0,35:-,NM_004805.3(POLR2D) c.73+102T>C:-,0.06:-,NOT_FOUND 2 128615577 rs74857120 G A 321 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=193;DB;DBA=NA;PAF=G/0.9607,A/0.03934;Gene=POLR2D/NM_004805.3/1;CC=c.73+25C>T;VC=Intron;DM=POLR2D/RNA_pol_Rpb4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:193:133:0:0:102,90,1:3303,2823,10:321.23,0.00,-0.14:133.74,0.00,-0.06:187.50,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.3,18.1,96.0:0,0,0:0,0,0:70,74,118:77,72,32:37,33,0:NM_004805.3(POLR2D) c.73+25C>T,-:0.05,-:0.062217,- 2 128615675 . c . . NT END=128622666;NT GT ./. 2 128622780 . C . . NT END=128624472;NT GT ./. 2 128624571 . C . . NT END=128624717;NT GT ./. 2 128624854 . C . . NT END=128627026;NT GT ./. 2 128627119 . C . . NT END=128628386;NT GT ./. 2 128628503 . C . . NT END=128628821;NT GT ./. 2 128628934 . C . . NT END=128630559;NT GT ./. 2 128631396 . A . . NT END=128631400;NT GT ./. 2 128631809 . C . . NT END=128642709;NT GT ./. 2 128642793 . G . . NT END=128642970;NT GT ./. 2 128643686 . G . . NT END=128699579;NT GT ./. 2 128699739 . C . . NT END=128699997;NT GT ./. 2 128699750 rs2304519 G C 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.8099,C/0.1901;PC=1.000;Gene=SAP130/NM_001145928.1/1;CC=c.3094-12C>G;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.2989-12C>G;VC=Intron;DM=SAP130/SAP130_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:63:28:0:0:25,38:815,1207:75.07,0.00:24.75,0.00:50.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,11.3:0,0:0,0:87,70:52,80:32,25:NM_001145928.1(SAP130) c.3094-12C>G,-:0.16,-:0.192219,- 2 128700112 . C . . NT END=128703029;NT GT ./. 2 128700235 rs17015685 C T 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8906,T/0.1094;Gene=SAP130/NM_001145928.1/1;CC=c.2980-124G>A;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.2875-124G>A;VC=Intron;DM=SAP130/SAP130_C;DM=SAP130/SAP130_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:9:0:0:0:3,6:90,204:0.00,20.78:0.00,0.00:0.00,20.78:0.00,0.99:0.00,0.00:0.00,0.99:60,60:31.0,34.0:0,0:0,0:113,72:38,78:23,15:-,NM_001145928.1(SAP130) c.2980-124G>A:-,0.09:-,NOT_FOUND 2 128703134 . C . . NT END=128707442;NT GT ./. 2 128703234 . A AT 8 rn VT=INS;SST=Single;DP=15;NP=1;PC=0.006;Gene=SAP130/NM_001145928.1/1;CC=c.2876-102_2876-101insA;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.2771-102_2771-101insA;VC=Intron;DM=SAP130/SAP130_C;DM=SAP130/SAP130_C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,AT:15:1:3:0:12,3:380,99:0.00,8.07:0.00,1.54:0.00,6.53:0.00,0.55:0.00,0.47:0.00,0.55:60,60:2.7,0.0:0,0:0,0:101,85:48,66:33,26:-,NM_001145928.1(SAP130) c.2876-102_2876-101insA:-,NOT_FOUND:-,NOT_FOUND 2 128705338 rs147211610 C CTGTGTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=16;NP=6;NP=62;PC=0.001;Gene=SAP130/NM_001145928.1/1;CC=c.2875+2104_2875+2105insCACACA;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.2770+2104_2770+2105insCACACA;VC=Intron;DM=SAP130/SAP130_C;DM=SAP130/SAP130_C;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,G,CTGTGTG:4:4:2:0:1,1,2:35,35,67:0.00,3.25,6.75:0.00,1.56,6.75:0.00,1.69,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.67:60,60,60:12.0,35.0,4.5:0,0,0:0,0,0:73,28,41:38,104,109:0,0,16:-,NM_001145928.1(SAP130) c.2875+2104_2875+2105insCACACA:-,NOT_FOUND:-,NOT_FOUND 2 128707569 . C . . NT END=128707733;NT GT ./. 2 128707983 . C . . NT END=128712559;NT GT ./. 2 128708063 rs2461463 T C 138 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.0601,C/0.9399;Gene=SAP130/NM_001145928.1/1;CC=c.2501-81A>G;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.2396-81A>G;VC=Intron;DM=SAP130/SAP130_C;DM=SAP130/SAP130_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:C:40:10:0:0:40:1195:138.23:23.21:115.02:1.00:1.00:1.00:60:39.0:0:0:98:48:23:NM_001145928.1(SAP130) c.2501-81A>G,NM_001145928.1(SAP130) c.2501-81A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 128712919 . C . . NT END=128735558;NT GT ./. 2 128735664 . C . . NT END=128744358;NT GT ./. 2 128744537 . C . . NT END=128747137;NT GT ./. 2 128744580 rs2948068 A G 61 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.2969,G/0.7031;PC=0.001;Gene=SAP130/NM_001145928.1/1;CC=c.1859-44T>C;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1859-44T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:14:0:0:19,22:561,626:0.00,60.75:0.00,10.59:0.00,50.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.7,41.3:0,0:0,0:88,126:63,13:18,16:-,NM_001145928.1(SAP130) c.1859-44T>C:-,0.75:-,0.756958 2 128744810 rs2461458 A G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.0601,G/0.9399;Gene=SAP130/NM_001145928.1/1;CC=c.1859-274T>C;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1859-274T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:34.0:0:0:88:63:8:NM_001145928.1(SAP130) c.1859-274T>C,NM_001145928.1(SAP130) c.1859-274T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 128746959 rs11674588 T C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8215,C/0.1785;PC=0.010;Gene=SAP130/NM_001145928.1/1;CC=c.1858+179A>G;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1858+179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:C,T:11:11:0:0:4,7:115,223:10.27,0.00:10.27,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:49.8,43.0:0,0:0,0:46,23:104,122:18,13:NM_001145928.1(SAP130) c.1858+179A>G,-:0.14,-:NOT_FOUND,- 2 128747023 rs17015839 A G 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.8906,G/0.1094;Gene=SAP130/NM_001145928.1/1;CC=c.1858+115T>C;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1858+115T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:16:0:0:7,9:210,278:0.00,27.34:0.00,27.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:23.4,48.0:0,0:0,0:56,74:95,75:41,19:-,NM_001145928.1(SAP130) c.1858+115T>C:-,0.09:-,NOT_FOUND 2 128747441 . C . . NT END=128750760;NT GT ./. 2 128747599 rs6430959 C A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1146,A/0.8854;Gene=SAP130/NM_001145928.1/1;CC=c.1556-159G>T;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1556-159G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:0:0:0:16:447:52.18:0.00:52.18:1.00:0.00:1.00:60:43.0:0:0:101:50:37:NM_001145928.1(SAP130) c.1556-159G>T,NM_001145928.1(SAP130) c.1556-159G>T:0.88,0.88:NOT_FOUND,NOT_FOUND 2 128750883 . C . . NT END=128753923;NT GT ./. 2 128753854 rs1550174 T C 140 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.0603,C/0.9397;PC=0.028;Gene=SAP130/NM_001145928.1/1;CC=c.1433+70A>G;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1433+70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:C:38:36:0:0:38:1224:140.40:122.07:18.33:1.00:1.00:1.00:60:37.7:0:0:43:103:29:NM_001145928.1(SAP130) c.1433+70A>G,NM_001145928.1(SAP130) c.1433+70A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 128754066 . C . . NT END=128757314;NT GT ./. 2 128754197 rs11676142 A G 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.8235,G/0.1765;PC=0.057;Gene=SAP130/NM_001145928.1/1;CC=c.1292-132T>C;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1292-132T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:3:0:0:18,18:566,615:0.00,59.25:0.00,1.34:0.00,57.92:0.00,1.00:0.00,0.89:0.00,1.00:60,60:7.1,37.1:0,0:0,0:102,96:48,53:42,24:-,NM_001145928.1(SAP130) c.1292-132T>C:-,0.14:-,NOT_FOUND 2 128757420 . C . . NT END=128757629;NT GT ./. 2 128757721 . C . . NT END=128757880;NT GT ./. 2 128757804 rs10928793 C T 106 nt VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.2238,T/0.7762;Gene=SAP130/NM_001145928.1/1;CC=c.1095+77G>A;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.1095+77G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:42:0:0:32,35:1039,1094:0.00,105.86:0.00,40.42:0.00,65.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,42.7:0,0:0,0:80,67:71,84:42,50:-,NM_001145928.1(SAP130) c.1095+77G>A:-,0.8:-,NOT_FOUND 2 128757995 rs17015864 A C 154 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.8904,C/0.1096,T/.;PC=0.997;Gene=SAP130/NM_001145928.1/1;CC=c.981T>G;ProtCh=p.S327=;VC=Silent;Gene=SAP130/NM_024545.3/0;CC=c.981T>G;ProtCh=p.S327=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:92:52:0:0:41,51:1394,1575:0.00,154.31:0.00,59.32:0.00,94.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,34.1:0,0:0,0:83,70:68,77:50,32:-,NM_001145928.1(SAP130) c.981T>G (p.(=)):-,0.09:-,0.07312 2 128758029 . C . . NT END=128767842;NT GT ./. 2 128767968 . C . . NT END=128770603;NT GT ./. 2 128768159 rs72841726 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7103,G/0.2897;Gene=SAP130/NM_001145928.1/1;CC=c.823-192T>C;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.823-192T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:A,G:17:0:0:0:11,6:322,161:0.00,14.14:0.00,0.00:0.00,14.14:0.00,0.95:0.00,0.00:0.00,0.95:60,60:16.3,39.5:0,0:0,0:111,61:39,87:27,40:-,NM_001145928.1(SAP130) c.823-192T>C:-,0.26:-,NOT_FOUND 2 128770729 . C . . NT END=128772376;NT GT ./. 2 128770731 . G GA 13 sb;idl,rn VT=INS;SST=Single;DP=70;NP=15;PC=1.000;Gene=SAP130/NM_001145928.1/1;CC=c.698-4dupT;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.698-4dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,G,GA,D:70:33:7:4:1,58,7,4:8,1850,189,119:-0.27,0.00,12.61,7.39:-0.12,0.00,-0.91,5.98:-0.15,0.00,13.52,1.41:0.00,0.00,0.89,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.99,0.00:60,60,60,60:129.0,11.6,19.3,32.0:0,0,0,0:0,0,0,0:65,107,87,85:84,40,64,65:0,27,26,31:-,NM_001145928.1(SAP130) c.698-4_698-3insT:-,NOT_FOUND:-,NOT_FOUND 2 128772310 rs35312230 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.651,T/0.349;Gene=SAP130/NM_001145928.1/1;CC=c.697+67G>A;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.697+67G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:21:0:0:12,11:373,303:0.00,28.56:0.00,27.33:0.00,1.24:0.00,1.00:0.00,1.00:0.00,0.87:60,60:5.2,37.0:0,0:0,0:37,80:113,71:30,12:-,NM_001145928.1(SAP130) c.697+67G>A:-,0.32:-,NOT_FOUND 2 128772489 . C . . NT END=128773962;NT GT ./. 2 128774122 . C . . NT END=128775253;NT GT ./. 2 128775490 . C . . NT END=128783754;NT GT ./. 2 128783873 . C . . NT END=128784665;NT GT ./. 2 128784324 rs6430970 C G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3281,G/0.6719;Gene=SAP130/NM_001145928.1/1;CC=c.72+342G>C;VC=Intron;Gene=SAP130/NM_024545.3/0;CC=c.72+342G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:100:11.88:11.88:0.00:1.00:1.00:0.00:60:52.0:0:0:47:101:26:NM_001145928.1(SAP130) c.72+342G>C,NM_001145928.1(SAP130) c.72+342G>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 128784907 . G . . NT END=128785513;NT GT ./. 2 128785536 . G . . NT END=128848931;NT GT ./. 2 128848651 rs6731515 C G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4277,G/0.5723;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,G:8:8:0:0:2,6:55,160:0.00,16.89:0.00,16.89:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:84.5,66.3:0,0:0,0:20,50:131,100:17,29:-,NM_020120.3(UGGT1) c.-178-u103C>G:-,0.61:-,NOT_FOUND 2 128848683 rs6759175 G T 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1777,T/0.8223 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:329:37.67:37.67:0.00:1.00:1.00:0.00:60:67.6:0:0:56:94:32:NM_020120.3(UGGT1) c.-178-u71G>T,NM_020120.3(UGGT1) c.-178-u71G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 128849114 rs4476299 T C 480 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=131;DB;DBA=NA;PAF=T/0.1651,C/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.58+125T>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:131:50:0:0:130,1:4184,19:479.77,0.46:124.74,0.00:355.03,0.46:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,19.0:0,0:0,0:91,131:56,20:34,0:NM_020120.3(UGGT1) c.58+125T>C,NM_020120.3(UGGT1) c.58+125T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128849171 . G . . NT END=128855002;NT GT ./. 2 128854948 . C CA 27 idl,rn VT=INS;SST=Single;DP=76;NP=4;PC=0.006;Gene=UGGT1/NM_020120.3/1;CC=c.59-41_59-40insA;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:73:71:11:8:57,11,5:1817,353,267:0.00,27.46,11.50:0.00,19.83,6.54:0.00,7.63,4.97:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.94,0.00:60,60,60:18.2,14.5,24.8:0,0,3:0,0,0:47,66,43:100,85,104:34,15,5:-,NM_020120.3(UGGT1) c.59-55_59-54insA:-,NOT_FOUND:-,NOT_FOUND 2 128855139 . G . . NT END=128861505;NT GT ./. 2 128855267 rs10928803 T C 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1651,C/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.194+129T>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:2:0:0:21:657:75.66:5.52:70.15:1.00:1.00:1.00:60:33.9:0:0:81:70:37:NM_020120.3(UGGT1) c.194+129T>C,NM_020120.3(UGGT1) c.194+129T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128861317 rs4407197 A G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7492,G/0.2508;PC=0.002;Gene=UGGT1/NM_020120.3/1;CC=c.195-189A>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:5:0:0:1,4:33,116:0.00,12.40:0.00,12.40:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:30.0,45.2:0,0:0,0:25,22:126,129:0,14:-,NM_020120.3(UGGT1) c.195-189A>G:-,0.24:-,NOT_FOUND 2 128861589 . G . . NT END=128865511;NT GT ./. 2 128861811 rs10928804 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1767,T/0.8233;Gene=UGGT1/NM_020120.3/1;CC=c.277+223C>T;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:141:16.45:0.00:16.45:1.00:0.00:1.00:60:47.0:0:0:118:32:29:NM_020120.3(UGGT1) c.277+223C>T,NM_020120.3(UGGT1) c.277+223C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 128865643 . G . . NT END=128867207;NT GT ./. 2 128865835 rs553371234 T TAAGA 27 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.1709,TAAG/.,TAAGA/0.7909;DB;DBA=NA;PAF=T/0.1709,A/0.03814;NP=356;PC=0.001;Gene=UGGT1/NM_020120.3/1;CC=c.408+195_408+196insGAAA;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TAAGA:10:0:8:0:2,8:57,254:0.00,27.04:0.00,0.00:0.00,27.04:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.5,49.4:0,0:0,0:144,70:-2,79:3,30:-,NM_020120.3(UGGT1) c.408+193_408+194insAAGA:-,NOT_FOUND:-,NOT_FOUND 2 128865858 rs6736472 A G 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1659,G/0.8341;Gene=UGGT1/NM_020120.3/1;CC=c.408+216A>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:223:25.63:0.00:25.63:1.00:0.00:1.00:60:56.4:0:0:96:55:28:NM_020120.3(UGGT1) c.408+216A>G,NM_020120.3(UGGT1) c.408+216A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128865916 rs6736490 A G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1767,G/0.8233;Gene=UGGT1/NM_020120.3/1;CC=c.408+274A>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:60:62.2:0:0:105:43:28:NM_020120.3(UGGT1) c.408+274A>G,NM_020120.3(UGGT1) c.408+274A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 128867321 . G . . NT END=128870657;NT GT ./. 2 128870808 rs4662775 T C 224 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.1767,C/0.8233;PC=0.998;Gene=UGGT1/NM_020120.3/1;CC=c.672T>C;ProtCh=p.N224=;VC=Silent;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:59:27:0:0:59:1962:224.30:77.39:146.91:1.00:1.00:1.00:60:34.9:0:0:96:50:33:NM_020120.3(UGGT1) c.672T>C (p.(=)),NM_020120.3(UGGT1) c.672T>C (p.(=)):0.86,0.86:0.889589,0.889589 2 128870833 . G . . NT END=128872697;NT GT ./. 2 128870952 rs4662776 C T 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1651,T/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.696+120C>T;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:A,T:13:0:0:0:1,12:10,388:0.48,44.10:0.00,0.00:0.48,44.10:0.00,1.00:0.00,0.00:0.00,1.00:60,60:29.0,35.1:0,0:0,0:15,99:136,51:0,42:NM_020120.3(UGGT1) c.696+120C>T,NM_020120.3(UGGT1) c.696+120C>T:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128872428 rs4497826 G A 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.03654,A/0.9635;Gene=UGGT1/NM_020120.3/1;CC=c.697-270G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:209:24.23:24.23:0.00:1.00:1.00:0.00:60:44.6:0:0:16:134:8:NM_020120.3(UGGT1) c.697-270G>A,NM_020120.3(UGGT1) c.697-270G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 128872595 rs56397917 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7496,T/0.2504;Gene=UGGT1/NM_020120.3/1;CC=c.697-103C>T;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,C,T:19:18:0:0:1,13,5:13,389,150:0.29,0.00,12.76:0.30,0.00,11.53:-0.01,0.00,1.23:0.00,0.00,0.86:0.00,0.00,0.99:0.00,0.00,0.55:60,60,60:23.0,5.1,43.2:0,0,0:0,0,0:138,52,15:12,99,136:0,29,8:-,NM_020120.3(UGGT1) c.697-103C>T:-,0.24:-,NOT_FOUND 2 128872795 . G . . NT END=128873838;NT GT ./. 2 128873918 . G . . NT END=128877929;NT GT ./. 2 128874061 rs10210598 G A 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1767,A/0.8233;PC=0.001;Gene=UGGT1/NM_020120.3/1;CC=c.872+144G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:286:32.89:0.00:32.89:1.00:0.00:1.00:60:51.2:0:0:126:24:17:NM_020120.3(UGGT1) c.872+144G>A,NM_020120.3(UGGT1) c.872+144G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 128874168 rs10210702 G A 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1651,A/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.872+251G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:104:12.66:0.00:12.66:1.00:0.00:1.00:60:56.6:0:0:75:69:17:NM_020120.3(UGGT1) c.872+251G>A,NM_020120.3(UGGT1) c.872+251G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128877837 rs4662593 G C 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1651,C/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.873-93G>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:A,C,G:23:22:0:0:1,21,1:12,708,10:0.44,79.07,0.00:-0.02,71.29,0.00:0.46,7.77,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:31.0,35.8,67.0:0,0,0:0,0,0:2,48,40:149,103,111:0,30,0:NM_020120.3(UGGT1) c.873-93G>C,NM_020120.3(UGGT1) c.873-93G>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128878014 rs4662594 G A 159 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.1651,A/0.8349;PC=1.000;Gene=UGGT1/NM_020120.3/1;CC=c.957G>A;ProtCh=p.K319=;VC=Silent;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:27:0:0:41:1393:158.83:71.68:87.14:1.00:1.00:1.00:60:37.5:0:0:89:59:24:NM_020120.3(UGGT1) c.957G>A (p.(=)),NM_020120.3(UGGT1) c.957G>A (p.(=)):0.87,0.87:0.899508,0.899508 2 128878031 . G . . NT END=128878772;NT GT ./. 2 128878667 rs6430990 T C 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1651,C/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.974-106T>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:433:49.50:49.50:0.00:1.00:1.00:0.00:60:33.3:0:0:37:114:27:NM_020120.3(UGGT1) c.974-106T>C,NM_020120.3(UGGT1) c.974-106T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128878873 . G . . NT END=128880759;NT GT ./. 2 128878979 rs377395183 C CT 8 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5202,CT/0.4798,CTT/.,CTTT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5202,CT/0.4798,CTT/.;DB;DBA=NA;PAF=NA;NP=2;PC=0.016;Gene=UGGT1/NM_020120.3/1;CC=c.1073+124_1073+125insT;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,CT:8:0:6:0:5,3:139,181:0.00,8.35:0.00,0.00:0.00,8.35:0.00,0.60:0.00,0.00:0.00,0.60:60,60:13.2,60.3:0,3:0,0:133,117:14,34:4,10:-,NM_020120.3(UGGT1) c.1073+107_1073+108insT:-,NOT_FOUND:-,NOT_FOUND 2 128879022 rs6430991 G C 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1651,C/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.1073+150G>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:135:15.41:0.00:15.41:1.00:0.00:1.00:60:51.2:0:0:55:95:21:NM_020120.3(UGGT1) c.1073+150G>C,NM_020120.3(UGGT1) c.1073+150G>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128880595 rs34915029 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.741,G/0.259;Gene=UGGT1/NM_020120.3/1;CC=c.1074-165A>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,G:11:11:0:0:6,5:206,106:0.00,9.51:0.00,9.51:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,42.6:0,0:0,0:39,53:111,97:21,15:-,NM_020120.3(UGGT1) c.1074-165A>G:-,0.25:-,NOT_FOUND 2 128880821 . G . . NT END=128884934;NT GT ./. 2 128880899 rs4480941 T A 79 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.011;Gene=UGGT1/NM_020120.3/1;CC=c.1134+79T>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:4:0:0:21:693:79.31:9.69:69.62:1.00:1.00:1.00:60:44.6:0:0:102:49:37:NM_020120.3(UGGT1) c.1134+79T>A,NM_020120.3(UGGT1) c.1134+79T>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 128880993 rs4633871 A G 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1651,G/0.8349;Gene=UGGT1/NM_020120.3/1;CC=c.1134+173A>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:375:43.20:0.00:43.20:1.00:0.00:1.00:60:58.7:0:0:98:53:26:NM_020120.3(UGGT1) c.1134+173A>G,NM_020120.3(UGGT1) c.1134+173A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128885027 . G . . NT END=128886602;NT GT ./. 2 128886754 . G . . NT END=128890714;NT GT ./. 2 128886971 . A AT 8 rn VT=INS;SST=Single;DP=11;PC=0.018;Gene=UGGT1/NM_020120.3/1;CC=c.1377+236_1377+237insT;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,AT,D:11:1:3:1:7,3,1:215,90,30:0.00,7.77,2.15:0.00,0.00,2.44:0.00,7.77,-0.29:0.00,0.60,0.00:0.00,0.52,0.00:0.00,0.93,0.00:60,60,60:6.0,23.7,15.0:0,0,0:0,0,0:144,99,4:6,52,147:1,18,0:-,NM_020120.3(UGGT1) c.1377+218_1377+219insT:-,NOT_FOUND:-,NOT_FOUND 2 128890513 rs12692076 T G 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1647,G/0.8353;Gene=UGGT1/NM_020120.3/1;CC=c.1378-202T>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G,T:15:14:0:0:14,1:429,11:48.12,0.00:44.18,0.00:3.95,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:42.5,188.0:0,0:0,0:45,93:105,29:16,0:NM_020120.3(UGGT1) c.1378-202T>G,NM_020120.3(UGGT1) c.1378-202T>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 128890835 . G . . NT END=128892449;NT GT ./. 2 128890878 rs74790008 T TG 77 nt VT=INS;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.4273,TG/0.5727;DB;DBA=NA;PAF=T/0.4273,TG/0.5727;DB;DBA=NA;PAF=NA;NP=2752;Gene=UGGT1/NM_020120.3/1;CC=c.1497+45dupG;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:62:26:27:0:35,27:1073,828:0.00,77.27:0.00,32.37:0.00,44.90:0.00,1.00:0.00,1.00:0.00,1.00:60,70:19.6,11.7:0,0:0,0:104,102:43,48:24,24:-,NM_020120.3(UGGT1) c.1497+44_1497+45insG:-,0.62:-,0.583786 2 128892536 . G . . NT END=128896290;NT GT ./. 2 128896088 rs571401095 T TAA 11 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=10;Gene=UGGT1/NM_020120.3/1;CC=c.1584-189_1584-188insAA;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:T,TAA:13:15:7:0:9,4:307,223:0.00,10.78:0.00,8.00:0.00,2.78:0.00,0.75:0.00,0.97:0.00,0.50:60,60:15.6,46.8:0,3:0,0:34,25:117,123:34,15:-,NM_020120.3(UGGT1) c.1584-203_1584-202insAA:-,NOT_FOUND:-,NOT_FOUND 2 128896427 . G . . NT END=128900667;NT GT ./. 2 128900551 rs78248913 C CC 8 idl,nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=3;PC=0.149;Gene=UGGT1/NM_020120.3/1;CC=c.1720-117_1720-116insC;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,C,CC,D:32:33:5:3:1,25,4,2:9,788,140,96:-0.12,0.00,7.84,4.14:-0.31,0.00,7.90,4.17:0.18,0.00,-0.05,-0.03:0.00,0.00,0.62,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.37,0.00:60,60,60,60:30.0,18.2,60.5,0.0:0,0,1,1:0,0,0,0:38,63,56,48:113,87,94,103:0,40,29,14:-,NM_020120.3(UGGT1) c.1720-117_1720-116insC:-,NOT_FOUND:-,NOT_FOUND 2 128900800 . G . . NT END=128903376;NT GT ./. 2 128903097 rs60769798 CAT C 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=82;PC=0.079;Gene=UGGT1/NM_020120.3/1;CC=c.1852-278_1852-277delTA;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:CAT,G,C:7:7:0:4:3,1,3:106,11,93:0.00,0.56,8.90:0.00,0.63,7.89:0.00,-0.07,1.01:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.83:60,40,60:11.0,281.0,0.0:0,0,0:0,0,0:98,13,40:46,137,46:1,0,5:-,NM_020120.3(UGGT1) c.1852-279_1852-278delAT:-,NOT_FOUND:-,NOT_FOUND 2 128903542 . G . . NT END=128910357;NT GT ./. 2 128910479 . G . . NT END=128913062;NT GT ./. 2 128912936 rs13009827 G A 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8257,A/0.1743;PC=0.003;Gene=UGGT1/NM_020120.3/1;CC=c.2138-127G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:9:9:0:0:5,4:153,126:15.00,0.00:15.00,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:32.8,0.0:0,0:0,0:25,90:125,60:21,40:NM_020120.3(UGGT1) c.2138-127G>A,-:0.15,-:NOT_FOUND,- 2 128913162 . G . . NT END=128913965;NT GT ./. 2 128913757 rs3738923 G A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4708,A/0.5292;Gene=UGGT1/NM_020120.3/1;CC=c.2237-209G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:159:18.28:18.28:0.00:1.00:1.00:0.00:60:31.8:0:0:28:123:24:NM_020120.3(UGGT1) c.2237-209G>A,NM_020120.3(UGGT1) c.2237-209G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 2 128913990 . G . . NT END=128914825;NT GT ./. 2 128914921 . G . . NT END=128917087;NT GT ./. 2 128916767 rs10188893 G A 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5655,A/0.4345;PC=0.001;Gene=UGGT1/NM_020120.3/1;CC=c.2356-321G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:6:6:0:0:3,3:80,78:7.62,0.00:7.62,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:46.7,29.3:0,0:0,0:62,74:88,77:59,3:NM_020120.3(UGGT1) c.2356-321G>A,-:0.38,-:NOT_FOUND,- 2 128917295 . G . . NT END=128918033;NT GT ./. 2 128918166 . G . . NT END=128918711;NT GT ./. 2 128918538 rs6430995 C T 130 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.3347,T/0.6653;Gene=UGGT1/NM_020120.3/1;CC=c.2695-174C>T;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:34:0:0:37:1126:130.19:119.56:10.63:1.00:1.00:1.00:60:38.3:0:0:58:92:33:NM_020120.3(UGGT1) c.2695-174C>T,NM_020120.3(UGGT1) c.2695-174C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 2 128918843 . G . . NT END=128922303;NT GT ./. 2 128922400 . G . . NT END=128927861;NT GT ./. 2 128927965 . G . . NT END=128928778;NT GT ./. 2 128928859 . G . . NT END=128930146;NT GT ./. 2 128929700 rs6733897 T C 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4637,C/0.5363;PC=0.001;Gene=UGGT1/NM_020120.3/1;CC=c.3105-447T>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:204:23.26:23.26:0.00:1.00:1.00:0.00:60:50.2:0:0:42:109:11:NM_020120.3(UGGT1) c.3105-447T>C,NM_020120.3(UGGT1) c.3105-447T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 128930337 . G . . NT END=128931354;NT GT ./. 2 128931514 . G . . NT END=128932346;NT GT ./. 2 128932111 rs10195658 T G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5645,G/0.4355;PC=0.001;Gene=UGGT1/NM_020120.3/1;CC=c.3454-236T>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:G,T:5:5:0:0:4,1:129,32:13.72,0.00:13.72,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:37.0,10.0:0,0:0,0:34,44:116,107:26,0:NM_020120.3(UGGT1) c.3454-236T>G,-:0.39,-:NOT_FOUND,- 2 128932433 . G . . NT END=128934387;NT GT ./. 2 128934400 rs2290111 T C 168 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.3357,C/0.6643;PC=0.992;Gene=UGGT1/NM_020120.3/1;CC=c.3552T>C;ProtCh=p.T1184=;VC=Silent;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:38:0:0:46:1458:167.71:101.21:66.50:1.00:1.00:1.00:60:40.7:0:0:43:104:26:NM_020120.3(UGGT1) c.3552T>C (p.(=)),NM_020120.3(UGGT1) c.3552T>C (p.(=)):0.63,0.63:0.69937,0.69937 2 128934473 . G . . NT END=128935405;NT GT ./. 2 128935495 . G . . NT END=128936041;NT GT ./. 2 128936000 rs2290110 T C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.5661,C/0.4339;Gene=UGGT1/NM_020120.3/1;CC=c.3714-42T>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:30:0:0:21,13:628,427:62.83,0.00:40.37,0.00:22.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,2.2:0,0:0,0:50,63:100,88:33,33:NM_020120.3(UGGT1) c.3714-42T>C,-:0.39,-:0.422728,- 2 128936144 . G . . NT END=128937359;NT GT ./. 2 128936171 rs397799570 TATG T 40 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=TATG/0.5667,T/0.4333;DB;DBA=NA;PAF=TATG/0.5667,T/0.4333;DB;DBA=NA;PAF=NA;NP=2107;PC=0.011;Gene=UGGT1/NM_020120.3/1;CC=c.3815+33_3815+35delTGA;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TATG,T:32:16:0:13:19,13:602,427:0.00,39.53:0.00,15.69:0.00,23.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,0.9:1,0:0,0:133,103:17,48:11,21:-,NM_020120.3(UGGT1) c.3815+29_3815+31delATG:-,0.39:-,0.422112 2 128937445 . G . . NT END=128938463;NT GT ./. 2 128938647 . G . . NT END=128939703;NT GT ./. 2 128939598 rs13000972 G A 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.7458,A/0.2542;Gene=UGGT1/NM_020120.3/1;CC=c.4084-106G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:30:0:0:16,14:512,381:49.86,0.00:48.17,0.00:1.69,0.00:1.00,0.00:1.00,0.00:0.82,0.00:60,60:53.3,11.9:0,0:0,0:82,61:67,89:45,17:NM_020120.3(UGGT1) c.4084-106G>A,-:0.25,-:NOT_FOUND,- 2 128939695 rs17793615 A G 115 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.8287,G/0.1713;Gene=UGGT1/NM_020120.3/1;CC=c.4084-9A>G;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:54:0:0:28,36:856,1169:0.00,114.97:0.00,86.48:0.00,28.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,53.2:0,0:0,0:60,61:90,89:27,30:-,NM_020120.3(UGGT1) c.4084-9A>G:-,0.15:-,0.163309 2 128939817 rs1699 G A 164 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.5721,A/0.4279;PC=1.000;Gene=UGGT1/NM_020120.3/1;CC=c.4197G>A;ProtCh=p.K1399=;VC=Silent;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:113:76:0:0:54,59:1718,1919:163.58,0.00:75.83,0.00:87.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,9.2:0,0:0,0:79,69:68,70:33,26:NM_020120.3(UGGT1) c.4197G>A (p.(=)),-:0.38,-:0.418653,- 2 128939865 . G . . NT END=128941248;NT GT ./. 2 128941073 rs10175339 G A 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9141,A/0.08586;Gene=UGGT1/NM_020120.3/1;CC=c.4245-176G>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:A,G:10:10:0:0:4,6:133,190:12.29,0.00:12.29,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:38.8,13.3:0,0:0,0:68,56:83,94:32,30:NM_020120.3(UGGT1) c.4245-176G>A,-:0.1,-:NOT_FOUND,- 2 128941364 . G . . NT END=128944256;NT GT ./. 2 128941483 rs558911313 G GGT 8 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;Gene=UGGT1/NM_020120.3/1;CC=c.4359+149_4359+150insTG;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:G,GGT:10:0:4:0:7,3:188,112:0.00,7.68:0.00,0.00:0.00,7.68:0.00,0.60:0.00,0.00:0.00,0.60:60,70:2.7,47.0:0,1:0,0:116,78:30,70:20,14:-,NM_020120.3(UGGT1) c.4359+120_4359+121insGT:-,NOT_FOUND:-,NOT_FOUND 2 128941511 rs71396517 T A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=94;PC=0.045;Gene=UGGT1/NM_020120.3/1;CC=c.4359+148T>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,T:10:0:0:2:3,7:104,237:9.18,0.00:0.00,0.00:9.18,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,70:34.7,22.9:0,0:0,0:17,122:133,25:2,20:NM_020120.3(UGGT1) c.4359+148T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 128944374 . G . . NT END=128945022;NT GT ./. 2 128944424 rs744265 T C 97 nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4681,C/0.5319;PC=0.001;Gene=UGGT1/NM_020120.3/1;CC=c.4476+51T>C;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:C,T:32:7:0:0:31,1:842,35:96.67,0.00:13.52,0.00:83.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:31.9,12.0:0,0:0,0:103,88:48,63:32,0:NM_020120.3(UGGT1) c.4476+51T>C,NM_020120.3(UGGT1) c.4476+51T>C:0.5,0.5:0.583731,0.583731 2 128944576 rs748760 C A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5643,A/0.4357;PC=0.002;Gene=UGGT1/NM_020120.3/1;CC=c.4476+203C>A;VC=Intron;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,C:9:0:0:0:4,5:140,126:13.25,0.00:0.00,0.00:13.25,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:42.5,13.2:0,0:0,0:119,105:31,45:19,37:NM_020120.3(UGGT1) c.4476+203C>A,-:0.39,-:NOT_FOUND,- 2 128945189 . G . . NT END=128947290;NT GT ./. 2 128947317 . T . . NT END=129025735;NT GT ./. 2 128947505 rs11542865 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5665,A/0.4335;Gene=UGGT1/NM_020120.3/1;CC=c.*189G>A;VC=3UTR;Gene=UGGT1/NR_027671.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:12:0:0:0:5,7:160,239:14.85,0.00:0.00,0.00:14.85,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:41.8,0.0:0,0:0,0:103,107:48,44:17,29:NM_020120.3(UGGT1) c.*189G>A,-:0.39,-:NOT_FOUND,- 2 128957775 rs6754809 T G 82 nt VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.5647,G/0.4353;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:40:9:0:0:1,24,15:12,819,488:0.16,82.05,0.00:-0.04,6.95,0.00:0.19,75.11,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.0,36.1,3.1:0,0,0:0,0,0:23,100,98:127,50,49:0,24,30:chr2 g.128957774T>G (intergenic),-:0.39,-:NOT_FOUND,- 2 128957967 rs62160077 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7456,G/0.2544;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G:5:0:0:0:2,3:54,101:0.00,10.07:0.00,0.00:0.00,10.07:0.00,0.78:0.00,0.00:0.00,0.78:60,60:65.0,62.7:0,0:0,0:73,124:76,26:1,21:-,chr2 g.128957966A>G (intergenic):-,0.25:-,NOT_FOUND 2 128975123 rs74679369 A G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8237,G/0.1763;PC=0.690 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:5:0:0:1,4:33,136:0.00,14.42:0.00,14.42:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,63.5:0,0:0,0:15,64:135,87:0,32:-,chr2 g.128975122A>G (intergenic):-,0.16:-,NOT_FOUND 2 128975303 rs13383622 C G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.615,A/.,G/0.385;PC=0.988 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,G:10:7:0:0:4,6:111,212:0.00,21.16:0.00,12.70:0.00,8.47:0.00,0.99:0.00,1.00:0.00,1.00:60,60:34.0,53.0:0,0:0,0:61,36:89,93:44,18:-,chr2 g.128975302C>G (intergenic):-,0.32:-,NOT_FOUND 2 129026227 rs3958533 G T 105 lc VT=SNV;PN=C;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HS6ST1/NM_004807.2/1;CC=c.745C>A;ProtCh=p.R249S;VC=Missense;DM=HS6ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:174:110:0:0:137,37:4246,1267:0.00,105.28:0.00,50.95:0.00,54.34:0.00,1.00:0.00,1.00:0.00,1.00:50,44:7.9,55.4:0,0:0,0:55,41:94,101:33,17:-,NM_004807.2(HS6ST1) c.745C>A (p.Arg249Ser):-,0.12:-,NOT_FOUND 2 129026249 rs200656779 G A 39 lc VT=SNV;PN=G;NN=C;SST=Single;DP=183;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HS6ST1/NM_004807.2/1;CC=c.723C>T;ProtCh=p.C241=;VC=Silent;DM=HS6ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:183:114:0:0:17,166:554,5440:38.97,0.00:17.88,0.00:21.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,60:72.4,11.0:0,0:0,0:60,59:79,89:14,25:NM_004807.2(HS6ST1) c.723C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 129026345 rs199809104 A G 28 sb,lc VT=SNV;PN=T;NN=T;SST=Single;DP=153;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HS6ST1/NM_004807.2/1;CC=c.627T>C;ProtCh=p.H209=;VC=Silent;DM=HS6ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,C,G:153:83:0:0:138,2,13:4368,30,409:0.00,0.03,27.89:0.00,-0.30,0.96:0.00,0.33,26.93:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,1.00:60,43,27:4.3,82.0,74.5:0,0,0:0,0,0:82,73,117:66,75,33:26,24,27:-,NM_004807.2(HS6ST1) c.627T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 129026445 . C . . NT END=129075610;NT GT ./. 2 129075877 rs200979099 G T 27 lc VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=1068;PC=1.000;Gene=HS6ST1/NM_004807.2/1;CC=c.261C>A;ProtCh=p.D87E;VC=Missense;DM=HS6ST1/Sulfotransfer_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:G,T:100:57:0:0:89,11:2782,365:0.00,26.71:0.00,10.64:0.00,16.07:0.00,0.99:0.00,0.99:0.00,1.00:60,43:20.2,89.7:0,0:0,0:61,70:81,78:30,12:-,NM_004807.2(HS6ST1) c.261C>A (p.Asp87Glu):-,NOT_FOUND:-,NOT_FOUND 2 129075919 rs61732019 G A 20 lc VT=SNV;PN=C;NN=C;SST=Single;DP=106;DB;DBA=NA;PAF=NA;PC=0.946;Gene=HS6ST1/NM_004807.2/1;CC=c.219C>T;ProtCh=p.R73=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,G,T:106:66:0:0:9,96,1:293,3077,13:20.27,0.00,-0.20:6.75,0.00,-0.18:13.52,0.00,-0.02:0.96,0.00,0.00:0.98,0.00,0.00:0.99,0.00,0.00:43,60,40:101.8,21.1,109.0:0,0,0:0,0,0:112,83,148:36,65,0:12,33,0:NM_004807.2(HS6ST1) c.219C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 129075961 rs61732881 T C 145 lc VT=SNV;PN=G;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=NA;PC=0.997;Gene=HS6ST1/NM_004807.2/1;CC=c.177A>G;ProtCh=p.T59=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:89:59:0:0:1,46,42:12,1494,1302:-0.03,144.75,0.00:0.10,100.04,0.00:-0.13,44.71,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,51,60:78.0,49.0,2.9:0,0,0:0,0,0:104,95,60:47,53,71:0,36,40:NM_004807.2(HS6ST1) c.177A>G (p.(=)),-:0.68,-:NOT_FOUND,- 2 129076138 . G . . NT END=130737688;NT GT ./. 2 129276233 rs2247926 A T 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7187,T/0.2813;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,T:6:6:0:0:3,3:98,75:0.00,7.08:0.00,7.08:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,48.7:0,0:0,0:39,40:112,111:24,17:-,chr2 g.129276232A>T (intergenic):-,0.23:-,NOT_FOUND 2 129276328 rs11681298 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8958,C/0.1042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:C,T:5:5:0:0:2,3:71,93:6.59,0.00:6.59,0.00:0.00,0.00:0.46,0.00:0.46,0.00:0.00,0.00:60,60:69.0,0.0:0,0:0,0:126,110:22,40:8,24:chr2 g.129276327T>C (intergenic),-:0.1,-:NOT_FOUND,- 2 129276720 rs841094 T C 119 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.6182,C/0.3818;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:36:0:0:39,24:1189,796:119.23,0.00:39.03,0.00:80.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,5.9:0,0:0,0:98,60:52,90:22,26:chr2 g.129276719T>C (intergenic),-:0.32,-:NOT_FOUND,- 2 129468759 rs6431021 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3944,G/0.6056;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:4:2:0:0:2,2:66,70:0.00,6.75:0.00,3.68:0.00,3.07:0.00,0.51:0.00,0.79:0.00,0.51:60,60:25.0,53.5:0,0:0,0:84,64:66,86:31,12:-,chr2 g.129468758A>G (intergenic):-,0.58:-,NOT_FOUND 2 130100580 rs2582984 C CTA 22 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=278;NP=5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:CTA:6:6:6:0:6:194:22.26:16.50:5.77:1.00:1.00:1.00:70:7.7:0:0:60:71:20:chr2 g.130100580_130100581insTA (intergenic),chr2 g.130100580_130100581insTA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130253977 rs34242261 T G 322 nt VT=SNV;PN=G;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.6647,G/0.3353;PC=0.506 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:90:73:0:0:89,1:2812,10:321.75,0.00:203.48,0.00:118.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,61.0:0,0:0,0:54,80:91,71:23,0:chr2 g.130253976T>G (intergenic),chr2 g.130253976T>G (intergenic):0.36,0.36:NOT_FOUND,NOT_FOUND 2 130254292 rs12475274 A G 192 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.01218,G/0.9878;NP=3409;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G,T:54:29:0:0:53,1:1674,11:192.16,0.22:76.65,0.22:115.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,34.0:0,0:0,0:75,61:75,89:41,0:chr2 g.130254291A>G (intergenic),chr2 g.130254291A>G (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 130300426 rs70991350 CGTGTGT C 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=25;PC=0.462;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CGTGTGT,C:5:3:0:4:2,3:38,100:0.00,9.99:0.00,5.38:0.00,4.61:0.00,0.78:0.00,0.94:0.00,0.78:60,60:64.0,0.0:0,0:0,0:110,87:20,60:5,4:-,chr2 g.130300427_130300432delGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130540846 rs68070441 TAC T 15 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.003;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:5:0:6:4:199:14.70:3.75:10.95:0.93:0.99:0.99:60:25.8:2:0:82:61:14:chr2 g.130540847_130540848delAC (intergenic),chr2 g.130540847_130540848delAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130737541 rs4347768 C T 222 nt VT=SNV;PN=T;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.4225,T/0.5775;PC=0.001;Gene=RAB6C-AS1/NR_036537.1/0;VC=NonCoding;Gene=RAB6C/NM_032144.2/1;CC=c.-148C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:C,T:64:64:0:0:1,63:28,1947:0.00,222.40:0.00,222.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:41,60:29.0,64.5:0,0:0,0:1,54:150,97:0,38:NM_032144.2(RAB6C) c.-148C>T,NM_032144.2(RAB6C) c.-148C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 2 130737578 rs4233601 G A 312 nt VT=SNV;PN=C;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=NA;PC=0.004;Gene=RAB6C-AS1/NR_036537.1/0;VC=NonCoding;Gene=RAB6C/NM_032144.2/1;CC=c.-111G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:103:0:0:90,18:2902,546:311.92,0.00:272.05,0.00:39.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,42:56.5,8.2:0,0:0,0:42,11:108,139:26,9:NM_032144.2(RAB6C) c.-111G>A,-:0.58,-:NOT_FOUND,- 2 130738163 rs144773989 G A 689 lc VT=SNV;PN=A;NN=C;SST=Single;DP=194;DB;DBA=NA;PAF=NA;PC=0.960;Gene=RAB6C/NM_032144.2/1;CC=c.475G>A;ProtCh=p.A159T;VC=Missense;DM=RAB6C/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:194:114:0:0:194:5972:689.17:330.72:358.45:1.00:1.00:1.00:60:38.8:0:0:86:60:25:NM_032144.2(RAB6C) c.475G>A (p.Ala159Thr),NM_032144.2(RAB6C) c.475G>A (p.Ala159Thr):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130738454 . T . . NT END=130831816;NT GT ./. 2 130745700 rs6741890 G A 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2819,A/0.7181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:5:0:0:6:207:23.56:17.55:6.02:1.00:1.00:1.00:60:35.7:0:0:56:93:44:chr2 g.130745699G>A (intergenic),chr2 g.130745699G>A (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 2 130751121 rs4362508 A T 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3045,T/0.6955;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:5:0:0:17:565:64.61:12.67:51.94:1.00:1.00:1.00:60:63.9:0:0:87:61:42:chr2 g.130751120A>T (intergenic),chr2 g.130751120A>T (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 2 130751141 rs4493197 C A 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.2813,A/0.7187;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:4:0:0:14:471:53.78:12.82:40.96:1.00:1.00:1.00:60:67.8:0:0:89:61:32:chr2 g.130751140C>A (intergenic),chr2 g.130751140C>A (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 2 130751346 . C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;NP=164;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:11:8:0:0:8,3:249,105:0.00,9.13:0.00,9.75:0.00,-0.62:0.00,0.60:0.00,0.89:0.00,0.83:60,40:31.1,115.3:0,0:0,0:80,31:70,119:41,14:-,chr2 g.130751345C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130751353 rs371030660 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=190;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:10:8:0:0:3,7:97,175:8.51,0.00:9.05,0.00:-0.54,0.00:0.62,0.00:0.92,0.00:0.82,0.00:40,60:115.3,35.6:0,0:0,0:38,43:112,91:14,16:chr2 g.130751352G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 130751403 rs374052287 G C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1416;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:C,G:12:9:0:0:6,6:197,166:19.00,0.00:16.68,0.00:2.32,0.00:0.98,0.00:1.00,0.00:0.99,0.00:42,60:119.7,41.5:0,0:0,0:55,83:94,68:23,8:chr2 g.130751402G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 130751472 rs76467336 G A 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1547;PC=0.946 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:9:5:0:0:6,3:200,103:20.37,0.00:12.81,0.00:7.56,0.00:0.99,0.00:0.99,0.00:0.93,0.00:42,60:120.8,0.0:0,0:0,0:109,74:41,77:4,7:chr2 g.130751471G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 130751499 . A G 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;NP=441;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:9:6:0:0:4,5:126,171:0.00,16.80:0.00,6.41:0.00,10.39:0.00,0.96:0.00,0.99:0.00,0.99:60,42:20.0,117.8:0,0:0,0:49,135:101,16:45,4:-,chr2 g.130751498A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130751541 . A C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;NP=1027;PC=0.200 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,C:8:4:0:0:4,4:139,86:0.00,7.99:0.00,1.57:0.00,6.42:0.00,0.87:0.00,0.51:0.00,0.73:60,40:28.2,189.8:0,0:0,0:59,42:91,109:33,20:-,chr2 g.130751540A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130751545 . T C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;NP=1469;PC=0.889 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:C,T:9:5:0:0:4,5:138,160:13.02,0.00:3.09,0.00:9.94,0.00:0.85,0.00:0.94,0.00:0.97,0.00:40,60:189.8,29.4:0,0:0,0:46,51:105,100:20,25:chr2 g.130751544T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 130751606 rs12692104 G A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:9:4:0:0:4,5:135,161:12.72,0.00:5.16,0.00:7.56,0.00:0.85,0.00:0.91,0.00:0.85,0.00:60,40:39.0,172.8:0,0:0,0:111,72:40,79:13,30:chr2 g.130751605G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 130751619 rs111243295 C T 16 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=3179;PC=0.627 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:9:4:0:0:4,5:129,166:0.00,16.30:0.00,1.38:0.00,14.92:0.00,0.96:0.00,0.96:0.00,0.96:60,40:33.5,172.8:0,0:0,0:99,85:30,66:37,30:-,chr2 g.130751618C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130751644 rs140103554 T G 16 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.515,G/0.485;NP=2939;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:G,T:9:4:0:0:5,4:158,117:15.51,0.00:1.07,0.00:14.44,0.00:0.96,0.00:0.96,0.00:1.00,0.00:55,60:163.6,39.0:0,0:0,0:97,104:52,24:13,17:chr2 g.130751643T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 130751655 rs151120298 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2536;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:6:0:0:0:2,4:63,115:0.00,11.72:0.00,0.00:0.00,11.72:0.00,0.93:0.00,0.00:0.00,0.93:60,55:33.5,156.0:0,0:0,0:102,107:47,43:17,7:-,chr2 g.130751654C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130762653 rs10928947 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1879,A/0.8121 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:148:17.18:13.61:3.58:1.00:1.00:1.00:60:79.0:0:0:36:114:23:chr2 g.130762652G>A (intergenic),chr2 g.130762652G>A (intergenic):0.44,0.44:NOT_FOUND,NOT_FOUND 2 130762675 rs10928948 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2919,G/0.7081;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:173:19.68:11.88:7.80:1.00:1.00:1.00:60:81.6:0:0:58:92:23:chr2 g.130762674A>G (intergenic),chr2 g.130762674A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130763615 rs6714619 G C 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:265:30.71:30.71:0.00:1.00:1.00:0.00:60:75.3:0:0:79:72:30:chr2 g.130763614G>C (intergenic),chr2 g.130763614G>C (intergenic):0.59,0.59:NOT_FOUND,NOT_FOUND 2 130763669 rs6744055 C T 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.406,T/0.594;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:16:0:0:16:462:53.71:53.71:0.00:1.00:1.00:0.00:60:47.5:0:0:31:119:20:chr2 g.130763668C>T (intergenic),chr2 g.130763668C>T (intergenic):0.59,0.59:NOT_FOUND,NOT_FOUND 2 130764965 rs11675456 T A 63 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4848,A/0.5152;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:11:0:0:16:549:62.53:36.98:25.55:1.00:1.00:1.00:60:38.2:0:0:48:103:25:chr2 g.130764964T>A (intergenic),chr2 g.130764964T>A (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 2 130765110 rs6423210 C T 69 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.4772,T/0.5228;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:9:0:0:18:603:68.88:28.28:40.61:1.00:1.00:1.00:60:39.9:0:0:70:80:32:chr2 g.130765109C>T (intergenic),chr2 g.130765109C>T (intergenic):0.54,0.54:NOT_FOUND,NOT_FOUND 2 130807430 rs532729349 G C 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9952,C/0.004792;NP=1;PC=0.940;Gene=FAR2P1/NR_026758.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:C,G,T:8:8:0:0:4,3,1:117,107,8:11.48,0.00,0.28:11.48,0.00,0.28:0.00,0.00,0.00:0.87,0.00,0.00:0.87,0.00,0.00:0.00,0.00,0.00:42,55,51:31.2,2.3,46.0:0,0,0:0,0,0:56,39,88:94,112,63:9,4,0:NR_026758.1(LOC440905) n.1275C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 130807680 rs59562337 A G 175 nt VT=SNV;PN=T;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.3808,G/0.6192;PC=0.100;Gene=FAR2P1/NR_026758.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:33:0:0:46:1535:175.34:83.20:92.14:1.00:1.00:1.00:44:52.0:0:0:55:96:34:NR_026758.1(LOC440905) n.1025T>C,NR_026758.1(LOC440905) n.1025T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 2 130807780 rs55647081 G C 122 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.3688,C/0.6312;NP=59;PC=0.007;Gene=FAR2P1/NR_026758.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:C,G:36:14:0:0:35,1:1068,10:121.79,0.00:30.00,0.00:91.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,50:58.1,5.0:0,0:0,0:113,80:36,71:17,0:NR_026758.1(LOC440905) n.925C>G,NR_026758.1(LOC440905) n.925C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130807905 rs201541587 G T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4571,T/0.5429;NP=22;PC=0.001;Gene=FAR2P1/NR_026758.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:40:83.2:0:0:65:86:15:NR_026758.1(LOC440905) n.800C>A,NR_026758.1(LOC440905) n.800C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130807965 rs199973207 G A 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4557,A/0.5443;NP=3;PC=0.693;Gene=FAR2P1/NR_026758.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:230:26.34:0.00:26.34:1.00:0.00:1.00:40:76.1:0:0:118:33:19:NR_026758.1(LOC440905) n.740C>T,NR_026758.1(LOC440905) n.740C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130831509 rs146466901 G A 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=64;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.*308C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:1:8:205:24.14:24.14:0.00:1.00:1.00:0.00:42:52.0:0:0:58:92:24:NM_001099771.2(POTEF) c.*308C>T,NM_001099771.2(POTEF) c.*308C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130832042 rs62165869 G A 221 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=NA;NP=43;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.3003C>T;ProtCh=p.G1001=;VC=Silent;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:129:57:0:0:74,55:2241,1572:221.28,0.00:-13.80,0.00:235.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,25:44.0,13.3:0,0:0,0:89,45:61,106:26,21:NM_001099771.2(POTEF) c.3003C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 130832127 rs200243409 C T 88 lc VT=SNV;PN=G;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=NA;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.2918G>A;ProtCh=p.G973D;VC=Missense;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:80:0:0:82,36:2560,1024:0.00,88.09:0.00,2.48:0.00,85.61:0.00,1.00:0.00,1.00:0.00,1.00:43,40:27.3,62.3:0,0:0,0:64,88:87,62:50,27:-,NM_001099771.2(POTEF) c.2918G>A (p.Gly973Asp):-,NOT_FOUND:-,NOT_FOUND 2 130832185 rs62165870 G A 514 lc VT=SNV;PN=C;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=G/0.4143,A/0.5857,C/.,T/.;NP=1111;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.2860C>T;ProtCh=p.R954W;VC=Missense;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:179:116:0:0:152,27:4745,748:514.36,0.00:311.46,0.00:202.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,43:53.0,63.4:0,0:0,0:39,107:108,42:21,21:NM_001099771.2(POTEF) c.2860C>T (p.Arg954Trp),-:NOT_FOUND,-:NOT_FOUND,- 2 130832256 rs376938834 A G 38 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=232;DB;DBA=NA;PAF=NA;NP=32;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.2789T>C;ProtCh=p.V930A;VC=Missense;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,G:232:152:0:0:212,20:6781,575:0.00,37.78:0.00,41.09:0.00,-3.31:0.00,1.00:0.00,1.00:0.00,1.00:45,40:51.8,61.1:0,0:0,0:86,66:63,84:25,32:-,NM_001099771.2(POTEF) c.2789T>C (p.Val930Ala):-,NOT_FOUND:-,NOT_FOUND 2 130832292 rs62165871 T A 637 lc VT=SNV;PN=A;NN=A;SST=Single;DP=208;DB;DBA=NA;PAF=NA;NP=3300;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.2753A>T;ProtCh=p.Y918F;VC=Missense;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:208:121:0:0:181,27:5857,853:637.11,0.00:164.88,0.00:472.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:49,40:57.2,49.7:0,0:0,0:107,53:42,98:18,36:NM_001099771.2(POTEF) c.2753A>T (p.Tyr918Phe),-:NOT_FOUND,-:NOT_FOUND,- 2 130832358 rs201946437 T C 314 lc VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=894;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.2687A>G;ProtCh=p.H896R;VC=Missense;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:96:45:0:0:92,1,3:2755,11,32:313.90,0.11,0.00:146.98,0.12,0.00:166.91,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,49:67.3,78.0,70.7:0,0,0:0,0,0:120,25,112:27,93,39:21,0,6:NM_001099771.2(POTEF) c.2687A>G (p.His896Arg),NM_001099771.2(POTEF) c.2687A>G (p.His896Arg):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130832389 rs199761904 G T 12 sb;end,lc VT=SNV;PN=G;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.2656C>A;ProtCh=p.P886T;VC=Missense;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:G,T:75:67:0:0:69,6:2052,182:0.00,12.00:0.00,-0.38:0.00,12.38:0.00,0.79:0.00,0.98:0.00,0.47:40,49:57.7,104.3:0,0:0,0:39,142:108,9:26,3:-,NM_001099771.2(POTEF) c.2656C>A (p.Pro886Thr):-,NOT_FOUND:-,NOT_FOUND 2 130832444 rs2599794 C A 390 lc VT=SNV;PN=C;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=NA;PC=1.000;Gene=POTEF/NM_001099771.2/1;CC=c.2601G>T;ProtCh=p.E867D;VC=Missense;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:108:102:0:0:105,1,2:3428,24,14:389.92,0.00,0.17:372.13,0.00,0.18:17.79,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,3,40:65.7,48.0,88.0:0,0,0:0,0,0:56,116,69:94,35,63:27,0,42:NM_001099771.2(POTEF) c.2601G>T (p.Glu867Asp),NM_001099771.2(POTEF) c.2601G>T (p.Glu867Asp):0.47,0.47:NOT_FOUND,NOT_FOUND 2 130832531 rs2122977 A G 918 lc VT=SNV;PN=C;NN=G;SST=Single;DP=271;DB;DBA=NA;PAF=NA;PC=0.994;Gene=POTEF/NM_001099771.2/1;CC=c.2514T>C;ProtCh=p.A838=;VC=Silent;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:271:231:0:0:269,2:7918,35:917.89,0.89:659.11,0.09:258.78,0.80:1.00,0.00:1.00,0.00:1.00,0.00:60,40:41.4,181.5:0,0:0,0:39,96:110,34:24,9:NM_001099771.2(POTEF) c.2514T>C (p.(=)),NM_001099771.2(POTEF) c.2514T>C (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130832873 rs62165872 G A 145 lc VT=SNV;PN=C;NN=T;SST=Single;DP=536;DB;DBA=NA;PAF=G/0.974,A/0.02596,C/.;NP=18;PC=0.998;Gene=POTEF/NM_001099771.2/1;CC=c.2172C>T;ProtCh=p.D724=;VC=Silent;DM=POTEF/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:536:340:0:0:57,479:1967,15035:145.13,0.00:81.08,0.00:64.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,43:39.2,7.6:0,0:0,0:79,76:68,74:19,37:NM_001099771.2(POTEF) c.2172C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 130833146 . C . . NT END=130834653;NT GT ./. 2 130833396 rs62165873 A G 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.501,G/0.499;NP=35;PC=0.001;Gene=POTEF/NM_001099771.2/1;CC=c.1900-251T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,T:12:0:0:0:11,1:338,21:38.59,1.51:0.00,0.00:38.59,1.51:1.00,0.00:0.00,0.00:1.00,0.00:57,60:60.6,143.0:0,0:0,0:99,37:50,113:24,0:NM_001099771.2(POTEF) c.1900-251T>C,NM_001099771.2(POTEF) c.1900-251T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130834633 rs200444405 G T 36 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=88;PC=0.001;Gene=POTEF/NM_001099771.2/1;CC=c.1899+21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:48:29:0:0:1,1,32,14:9,21,1050,418:-0.14,0.65,0.00,36.18:-0.14,0.81,0.00,38.10:-0.01,-0.16,0.00,-1.92:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:25,25,27,27:40.0,113.0,6.0,34.5:0,0,0,0:0,0,0,0:34,52,38,42:117,85,111,108:0,0,25,34:-,NM_001099771.2(POTEF) c.1899+21C>A:-,NOT_FOUND:-,NOT_FOUND 2 130834775 . C . . NT END=130843386;NT GT ./. 2 130835055 rs201946649 A G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=48;PC=0.002;Gene=POTEF/NM_001099771.2/1;CC=c.1779-281T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,G:11:0:0:0:5,6:160,183:0.00,17.85:0.00,0.00:0.00,17.85:0.00,0.98:0.00,0.00:0.00,0.98:27,27:7.0,38.8:0,0:0,0:123,121:28,28:16,11:-,NM_001099771.2(POTEF) c.1779-281T>C:-,NOT_FOUND:-,NOT_FOUND 2 130843569 . C . . NT END=130843915;NT GT ./. 2 130843808 rs62165897 T C 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=0.073;Gene=POTEF/NM_001099771.2/1;CC=c.1596+108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:36:0:0:20,16:617,520:60.47,0.00:60.47,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:25,25:38.9,2.8:0,0:0,0:19,49:131,101:16,32:NM_001099771.2(POTEF) c.1596+108A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 130843961 . C . . NT END=130845639;NT GT ./. 2 130845711 . C . . NT END=130851010;NT GT ./. 2 130851082 . C . . NT END=130857042;NT GT ./. 2 130857210 . C . . NT END=130858248;NT GT ./. 2 130858294 . C . . NT END=130859682;NT GT ./. 2 130858589 rs62166764 G A 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3916,A/0.6084;PC=0.102;Gene=POTEF/NM_001099771.2/1;CC=c.1198-296C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:244:28.16:0.00:28.16:1.00:0.00:1.00:43:46.6:0:0:109:41:18:NM_001099771.2(POTEF) c.1198-296C>T,NM_001099771.2(POTEF) c.1198-296C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 2 130859754 . C . . NT END=130865581;NT GT ./. 2 130860020 rs62166766 C G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=133;PC=0.001;Gene=POTEF/NM_001099771.2/1;CC=c.1127-267G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:301:34.39:0.00:34.39:1.00:0.00:1.00:36:44.0:0:0:110:40:34:NM_001099771.2(POTEF) c.1127-267G>C,NM_001099771.2(POTEF) c.1127-267G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130865653 . C . . NT END=130868115;NT GT ./. 2 130865767 rs62163061 T C 213 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.9241,C/0.07588;PC=0.036;Gene=POTEF/NM_001099771.2/1;CC=c.1056-115A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C:58:1:0:0:58:1850:212.59:1.99:210.60:1.00:1.00:1.00:60:39.9:0:0:100:49:34:NM_001099771.2(POTEF) c.1056-115A>G,NM_001099771.2(POTEF) c.1056-115A>G:0.09,0.09:NOT_FOUND,NOT_FOUND 2 130868253 rs201043904 T C 107 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2608,C/0.7392;PC=0.940;Gene=POTEF/NM_001099771.2/1;CC=c.918A>G;ProtCh=p.R306=;VC=Silent;DM=POTEF/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:C:33:0:0:0:33:920:107.47:0.00:107.47:1.00:0.00:1.00:27:44.6:0:0:101:50:18:NM_001099771.2(POTEF) c.918A>G (p.(=)),NM_001099771.2(POTEF) c.918A>G (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130868254 . C . . NT END=130869567;NT GT ./. 2 130868380 rs55948641 A T 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=49;Gene=POTEF/NM_001099771.2/1;CC=c.918-127T>A;VC=Intron;DM=POTEF/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:136:15.51:3.88:11.63:1.00:1.00:1.00:40:34.0:0:0:102:47:4:NM_001099771.2(POTEF) c.918-127T>A,NM_001099771.2(POTEF) c.918-127T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130869424 rs199880825 G A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=266;PC=0.002;Gene=POTEF/NM_001099771.2/1;CC=c.917+144C>T;VC=Intron;DM=POTEF/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:450:51.68:51.68:0.00:1.00:1.00:0.00:41:34.4:0:0:24:125:8:NM_001099771.2(POTEF) c.917+144C>T,NM_001099771.2(POTEF) c.917+144C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130869609 rs62163064 A G 198 lc VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.4848,G/0.5152;PC=0.001;Gene=POTEF/NM_001099771.2/1;CC=c.876T>C;ProtCh=p.I292=;VC=Silent;DM=POTEF/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:C,G:55:40:0:0:1,54:10,1731:0.17,198.30:0.00,143.91:0.17,54.39:0.00,1.00:0.00,1.00:0.00,1.00:27,40:113.0,38.9:0,0:0,0:95,89:55,61:0,22:NM_001099771.2(POTEF) c.876T>C (p.(=)),NM_001099771.2(POTEF) c.876T>C (p.(=)):0.28,0.28:NOT_FOUND,NOT_FOUND 2 130869675 . C . . NT END=130872453;NT GT ./. 2 130869734 rs62163065 G A 155 nt VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1452;Gene=POTEF/NM_001099771.2/1;CC=c.811-60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A:43:3:0:0:43:1344:154.86:7.90:146.95:1.00:1.00:1.00:40:45.5:0:0:88:62:18:NM_001099771.2(POTEF) c.811-60C>T,NM_001099771.2(POTEF) c.811-60C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130869840 rs201212499 C T 63 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=343;Gene=POTEF/NM_001099771.2/1;CC=c.811-166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:0:0:0:17:553:63.41:0.00:63.41:1.00:0.00:1.00:40:48.4:0:0:93:57:27:NM_001099771.2(POTEF) c.811-166G>A,NM_001099771.2(POTEF) c.811-166G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130872254 . TA T 9 rn VT=DEL;SST=Single;DP=34;NP=13;PC=0.001;Gene=POTEF/NM_001099771.2/1;CC=c.810+199delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TA,I,T:34:34:1:5:28,1,5:854,9,127:0.00,-0.16,9.16:0.00,-0.16,9.16:0.00,0.00,0.00:0.00,0.00,0.79:0.00,0.00,0.79:0.00,0.00,0.00:54,9,44:21.8,78.0,84.2:0,0,0:0,0,0:44,27,47:106,124,104:21,0,23:-,NM_001099771.2(POTEF) c.810+199delT:-,NOT_FOUND:-,NOT_FOUND 2 130872628 . C . . NT END=130872786;NT GT ./. 2 130872658 rs201113252 A T 760 nt VT=SNV;PN=A;NN=A;SST=Single;DP=214;DB;DBA=NA;PAF=NA;PC=0.017;Gene=POTEF/NM_001099771.2/1;CC=c.637-31T>A;VC=Intron;DM=POTEF/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:214:136:0:0:2,212:65,6646:0.00,760.37:0.00,416.49:0.00,343.88:0.00,1.00:0.00,1.00:0.00,1.00:23,48:85.0,41.4:0,0:0,0:109,70:33,78:33,34:NM_001099771.2(POTEF) c.637-31T>A,NM_001099771.2(POTEF) c.637-31T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130872791 rs200596208 A G 61 lc VT=SNV;PN=T;NN=T;SST=Single;DP=245;DB;DBA=NA;PAF=NA;PC=0.920;Gene=POTEF/NM_001099771.2/1;CC=c.632T>C;ProtCh=p.I211T;VC=Missense;DM=POTEF/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:245:157:0:0:220,24,1:6899,831,12:0.00,60.51,-0.31:0.00,57.92,-0.13:0.00,2.60,-0.19:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,40,4:10.3,94.5,219.0:0,0,0:0,0,0:62,23,149:89,124,2:39,13,0:-,NM_001099771.2(POTEF) c.632T>C (p.Ile211Thr):-,NOT_FOUND:-,NOT_FOUND 2 130872902 . C . . NT END=130877567;NT GT ./. 2 130872956 rs200901373 G T 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=155;DB;DBA=NA;PAF=NA;Gene=POTEF/NM_001099771.2/1;CC=c.522-55C>A;VC=Intron;DM=POTEF/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:155:31:0:0:131,24:4351,758:0.00,58.28:0.00,10.33:0.00,47.95:0.00,1.00:0.00,0.98:0.00,1.00:43,42:7.3,94.5:0,0:0,0:101,136:48,9:32,10:-,NM_001099771.2(POTEF) c.522-55C>A:-,NOT_FOUND:-,NOT_FOUND 2 130872964 rs202038914 T A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=NA;PC=0.338;Gene=POTEF/NM_001099771.2/1;CC=c.522-63A>T;VC=Intron;DM=POTEF/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:A,G,T:134:23:0:0:12,1,121:351,10,3901:23.45,-0.30,0.00:0.78,-0.04,0.00:22.67,-0.25,0.00:0.99,0.00,0.00:0.78,0.00,0.00:1.00,0.00,0.00:42,40,43:152.8,216.0,5.3:0,0,0:0,0,0:98,75,104:50,40,46:13,0,29:NM_001099771.2(POTEF) c.522-63A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 130872967 . T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=129;Gene=POTEF/NM_001099771.2/1;CC=c.522-66A>G;VC=Intron;DM=POTEF/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:C,T:129:20:0:0:10,119:349,3911:24.40,0.00:-0.47,0.00:24.87,0.00:0.97,0.00:0.68,0.00:1.00,0.00:40,43:171.0,7.2:0,0:0,0:100,104:50,45:10,28:NM_001099771.2(POTEF) c.522-66A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 130872972 . C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=124;NP=1;Gene=POTEF/NM_001099771.2/1;CC=c.522-71G>A;VC=Intron;DM=POTEF/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,T:124:16:0:0:114,10:3743,306:0.00,20.39:0.00,-0.40:0.00,20.80:0.00,0.97:0.00,0.63:0.00,1.00:43,40:7.3,171.0:0,0:0,0:104,105:42,45:31,10:-,NM_001099771.2(POTEF) c.522-71G>A:-,NOT_FOUND:-,NOT_FOUND 2 130877584 rs201936889 G T 266 lc VT=SNV;PN=T;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.7676,T/0.2324;NP=10;Gene=POTEF/NM_001099771.2/1;CC=c.505C>A;ProtCh=p.Q169K;VC=Missense;DM=POTEF/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:78:76:0:0:1,77:13,2316:0.00,266.22:0.00,255.23:0.00,10.99:0.00,1.00:0.00,1.00:0.00,1.00:43,41:71.0,43.2:0,0:0,0:66,14:78,137:0,9:NM_001099771.2(POTEF) c.505C>A (p.Gln169Lys),NM_001099771.2(POTEF) c.505C>A (p.Gln169Lys):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130877752 rs77273091 T C 1927 lc VT=SNV;PN=C;NN=G;SST=Single;DP=549;DB;DBA=NA;PAF=NA;NP=3003;Gene=POTEF/NM_001099771.2/1;CC=c.337A>G;ProtCh=p.S113G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:549:445:0:0:4,542,1,2:47,16758,9,46:0.44,1927.06,0.02,0.00:0.26,1328.33,0.02,0.00:0.18,598.74,-0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:43,53,27,60:61.0,50.2,131.0,50.5:0,1,0,0:0,0,0,0:88,71,2,70:62,70,116,50:39,31,0,11:NM_001099771.2(POTEF) c.337A>G (p.Ser113Gly),NM_001099771.2(POTEF) c.337A>G (p.Ser113Gly):NOT_FOUND,NOT_FOUND:0.433817,0.433817 2 130878089 . C . . NT END=130897127;NT GT ./. 2 130893676 rs56036584 C T 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6016,T/0.3984;PC=1.000;Gene=MED15P9/NR_033903.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:1:0:0:5:157:18.08:3.28:14.81:1.00:1.00:1.00:60:33.4:0:0:69:82:42:NR_033903.1(CCDC74B-AS1) n.577+558C>T,NR_033903.1(CCDC74B-AS1) n.577+558C>T:0.41,0.41:NOT_FOUND,NOT_FOUND 2 130897055 rs28751929 G A 382 nt VT=SNV;PN=T;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.2422,A/0.7578,C/.,T/.;Gene=CCDC74B/NM_001258307.1/1;CC=c.*73C>T;VC=3UTR;Gene=CCDC74B/NM_207310.2/0;CC=c.*73C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:107:96:0:0:107:3315:382.29:296.05:86.25:1.00:1.00:1.00:60:38.6:0:0:37:112:28:NM_207310.2(CCDC74B) c.*73C>T,NM_207310.2(CCDC74B) c.*73C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 2 130897234 rs3177472 C T 693 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=184;DB;DBA=NA;PAF=C/0.626,T/0.374;PC=0.009;Gene=CCDC74B/NM_001258307.1/1;CC=c.839G>A;ProtCh=p.R280H;VC=Missense;Gene=CCDC74B/NM_207310.2/0;CC=c.1037G>A;ProtCh=p.R346H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:184:108:0:0:184:6054:692.92:266.55:426.38:1.00:1.00:1.00:60:37.5:0:0:84:60:31:NM_207310.2(CCDC74B) c.1037G>A (p.Arg346His),NM_207310.2(CCDC74B) c.1037G>A (p.Arg346His):0.38,0.38:0.340462,0.340462 2 130897264 . C . . NT END=130897463;NT GT ./. 2 130897521 . C . . NT END=130897595;NT GT ./. 2 130897559 rs2258632 C A 173 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=CCDC74B/NM_001258307.1/1;CC=c.752+37G>T;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.950+37G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:26:0:0:50:1492:172.88:92.77:80.12:1.00:1.00:1.00:40:54.3:0:0:75:69:59:NM_207310.2(CCDC74B) c.950+37G>T,NM_207310.2(CCDC74B) c.950+37G>T:0.25,0.25:NOT_FOUND,NOT_FOUND 2 130897620 rs2259332 A G 347 lc VT=SNV;PN=G;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.6362,G/0.3638;Gene=CCDC74B/NM_001258307.1/1;CC=c.728T>C;ProtCh=p.V243A;VC=Missense;Gene=CCDC74B/NM_207310.2/0;CC=c.926T>C;ProtCh=p.V309A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:96:77:0:0:95,1:3019,9:346.52,0.08:232.85,0.08:113.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.6,170.0:0,0:0,0:45,48:106,100:21,0:NM_207310.2(CCDC74B) c.926T>C (p.Val309Ala),NM_207310.2(CCDC74B) c.926T>C (p.Val309Ala):0.29,0.29:NOT_FOUND,NOT_FOUND 2 130897670 . C . . NT END=130897751;NT GT ./. 2 130897945 . C . . NT END=130898730;NT GT ./. 2 130898198 rs144769951 A G 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=314;Gene=CCDC74B/NM_001258307.1/1;CC=c.486-254T>C;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.684-254T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:350:40.62:0.00:40.62:1.00:0.00:1.00:43:79.2:0:0:94:57:27:NM_207310.2(CCDC74B) c.684-254T>C,NM_207310.2(CCDC74B) c.684-254T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130898232 rs62163120 C T 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=CCDC74B/NM_001258307.1/1;CC=c.486-288G>A;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.684-288G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:270:31.75:0.00:31.75:1.00:0.00:1.00:43:89.0:0:0:112:38:23:NM_207310.2(CCDC74B) c.684-288G>A,NM_207310.2(CCDC74B) c.684-288G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 2 130898589 rs149075113 T A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7115,A/0.2885;Gene=CCDC74B/NM_001258307.1/1;CC=c.485+142A>T;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.683+142A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:30:30:0:0:14,16:471,483:44.79,0.00:44.93,0.00:-0.14,0.00:1.00,0.00:1.00,0.00:0.64,0.00:40,47:38.4,23.2:0,0:0,0:24,43:119,106:16,22:NM_207310.2(CCDC74B) c.683+142A>T,-:0.1,-:NOT_FOUND,- 2 130898870 . C . . NT END=130899705;NT GT ./. 2 130899040 rs202043774 A G 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=217;Gene=CCDC74B/NM_001258307.1/1;CC=c.347-171T>C;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.545-171T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:28:0:0:0:5,23:151,684:0.00,73.56:0.00,0.00:0.00,73.56:0.00,1.00:0.00,0.00:0.00,1.00:27,40:12.6,54.0:0,0:0,0:109,104:42,45:9,33:-,NM_207310.2(CCDC74B) c.545-171T>C:-,NOT_FOUND:-,NOT_FOUND 2 130899224 rs2599964 A G 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4886,G/0.5114;Gene=CCDC74B/NM_001258307.1/1;CC=c.347-355T>C;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.545-355T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:171:19.93:3.88:16.05:1.00:1.00:1.00:56:45.0:0:0:65:86:23:NM_207310.2(CCDC74B) c.545-355T>C,NM_207310.2(CCDC74B) c.545-355T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 130899523 rs57389073 A AC 24 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=23;Gene=CCDC74B/NM_001258307.1/1;CC=c.346+182dupG;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.544+182dupG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,AC:12:12:9:0:3,9:69,227:0.00,24.09:0.00,24.09:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:56,57:39.3,65.9:1,0:0,0:55,83:76,68:50,26:-,NM_207310.2(CCDC74B) c.544+182_544+183insG:-,NOT_FOUND:-,NOT_FOUND 2 130899804 rs138331089 T C 291 lc VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=CCDC74B/NM_001258307.1/1;CC=c.296-48A>G;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.446A>G;ProtCh=p.H149R;VC=Missense;DM=CCDC74B/CCDC92 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:174:C,T:87:39:0:0:85,2:2551,69:291.23,0.00:129.57,0.00:161.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,51:42.9,23.5:0,0:0,0:92,56:55,94:34,11:NM_207310.2(CCDC74B) c.446A>G (p.His149Arg),NM_207310.2(CCDC74B) c.446A>G (p.His149Arg):0.76,0.76:NOT_FOUND,NOT_FOUND 2 130900188 rs28743163 A G 652 lc VT=SNV;PN=T;NN=C;SST=Single;DP=171;DB;DBA=NA;PAF=A/0.4942,G/0.5058;Gene=CCDC74B/NM_001258307.1/1;CC=c.296-432T>C;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.296-234T>C;VC=Intron;DM=CCDC74B/CCDC92 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:171:104:0:0:1,169,1:12,5722,11:0.10,651.76,0.08:0.10,312.68,0.00:0.00,339.08,0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,60,60:98.0,44.3,66.0:0,0,0:0,0,0:105,76,34:44,75,115:0,38,0:NM_207310.2(CCDC74B) c.296-234T>C,NM_207310.2(CCDC74B) c.296-234T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 2 130900887 . C . . NT END=130902193;NT GT ./. 2 130902067 rs60089935 C T 131 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=CCDC74B/NM_001258307.1/1;CC=c.250+253G>A;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.250+253G>A;VC=Intron;DM=CCDC74B/CCDC92 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:37:0:0:37:1137:131.28:125.72:5.57:1.00:1.00:1.00:51:46.7:0:0:46:105:36:NM_207310.2(CCDC74B) c.250+253G>A,NM_207310.2(CCDC74B) c.250+253G>A:0.25,0.25:NOT_FOUND,NOT_FOUND 2 130902194 rs60152285 C T 370 lc VT=SNV;PN=C;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.5563,A/.,T/0.4437;Gene=CCDC74B/NM_001258307.1/1;CC=c.250+126G>A;VC=Intron;Gene=CCDC74B/NM_207310.2/0;CC=c.250+126G>A;VC=Intron;DM=CCDC74B/CCDC92 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:98:80:0:0:1,97:14,3245:0.23,370.26:0.23,250.02:0.00,120.24:0.00,1.00:0.00,1.00:0.00,1.00:40,53:85.0,45.3:0,0:0,0:23,85:89,65:0,31:NM_207310.2(CCDC74B) c.250+126G>A,NM_207310.2(CCDC74B) c.250+126G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 2 130902549 rs34080706 C T 674 lc VT=SNV;PN=C;NN=G;SST=Single;DP=184;DB;DBA=NA;PAF=C/0.6398,T/0.3602;PC=0.001;Gene=CCDC74B/NM_001258307.1/1;CC=c.21G>A;ProtCh=p.A7=;VC=Silent;Gene=CCDC74B/NM_207310.2/0;CC=c.21G>A;ProtCh=p.A7=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:184:81:0:0:1,183:6,5884:0.00,674.05:0.00,248.96:0.00,425.09:0.00,1.00:0.00,1.00:0.00,1.00:27,57:54.0,45.3:0,0:0,0:18,95:126,56:0,36:NM_207310.2(CCDC74B) c.21G>A (p.(=)),NM_207310.2(CCDC74B) c.21G>A (p.(=)):0.36,0.36:NOT_FOUND,NOT_FOUND 2 130902570 . A . . NT END=130910127;NT GT ./. 2 130902757 rs35105986 G C 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5004,C/0.4996,T/.;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:0:0:0:34:954:111.44:0.00:111.44:1.00:0.00:1.00:60:39.6:0:0:114:34:21:NM_207310.2(CCDC74B) c.-138-u50C>G,NM_207310.2(CCDC74B) c.-138-u50C>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 130909882 rs3192414 C G 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6106,G/0.3894;Gene=SMPD4/NM_001171083.2/0;CC=c.*246G>C;VC=3UTR;Gene=SMPD4/NM_017751.4/0;CC=c.*246G>C;VC=3UTR;Gene=SMPD4/NM_017951.4/1;CC=c.*246G>C;VC=3UTR;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:56.0:0:0:56:95:20:NM_017951.4(SMPD4) c.*246G>C,NM_017951.4(SMPD4) c.*246G>C:0.39,0.39:NOT_FOUND,NOT_FOUND 2 130910458 . C . . NT END=130910615;NT GT ./. 2 130910745 . C . . NT END=130910891;NT GT ./. 2 130910847 rs4511676 G A 503 nt VT=SNV;PN=C;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.6106,A/0.3894;Gene=SMPD4/NM_001171083.2/0;CC=c.1836+45C>T;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.2055+45C>T;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.2142+45C>T;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:133:85:0:0:131,1,1:4428,9,7:503.39,0.06,0.00:251.97,-0.00,0.00:251.42,0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.7,137.0,0.0:0,0,0:0,0,0:62,105,114:87,45,37:39,0,0:NM_017951.4(SMPD4) c.2142+45C>T,NM_017951.4(SMPD4) c.2142+45C>T:0.39,0.39:0.358834,0.358834 2 130911024 . C . . NT END=130911274;NT GT ./. 2 130911509 . C . . NT END=130911849;NT GT ./. 2 130912056 . C . . NT END=130912668;NT GT ./. 2 130912514 rs10928960 A G 79 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.5162,G/0.4838;Gene=SMPD4/NM_001171083.2/0;CC=c.1264+155T>C;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.1483+155T>C;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.1570+155T>C;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:25:0:0:25:669:78.72:78.72:0.00:1.00:1.00:0.00:60:37.3:0:0:47:104:37:NM_017951.4(SMPD4) c.1570+155T>C,NM_017951.4(SMPD4) c.1570+155T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 130912833 . C . . NT END=130913607;NT GT ./. 2 130913460 rs11679878 C T 79 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6102,T/0.3898;Gene=SMPD4/NM_001171083.2/0;CC=c.1100+148G>A;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.1319+148G>A;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.1406+148G>A;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:23:0:0:23:684:79.30:77.36:1.94:1.00:1.00:1.00:60:47.6:0:0:59:83:31:NM_017951.4(SMPD4) c.1406+148G>A,NM_017951.4(SMPD4) c.1406+148G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 2 130913709 . C . . NT END=130914157;NT GT ./. 2 130914387 . c . . NT END=130914823;NT GT ./. 2 130914655 rs13024697 G A 49 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6404,A/0.3596;Gene=SMPD4/NM_001171083.2/0;CC=c.908+169C>T;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.1127+169C>T;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.1214+169C>T;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,G:15:12:0:0:14,1:443,14:49.45,0.00:38.91,0.00:10.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,27:52.2,115.0:0,0:0,0:45,57:106,91:18,0:NM_017951.4(SMPD4) c.1214+169C>T,NM_017951.4(SMPD4) c.1214+169C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 2 130914797 rs145477722 T C 286 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;Gene=SMPD4/NM_001171083.2/0;CC=c.908+27A>G;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.1127+27A>G;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.1214+27A>G;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:67:0:0:75:2509:286.44:198.51:87.93:1.00:1.00:1.00:45:43.2:0:0:67:83:23:NM_017951.4(SMPD4) c.1214+27A>G,NM_017951.4(SMPD4) c.1214+27A>G:0.41,0.41:NOT_FOUND,NOT_FOUND 2 130914970 . C . . NT END=130915756;NT GT ./. 2 130915839 . C . . NT END=130918758;NT GT ./. 2 130915892 . C CT 15 idl,rn VT=INS;SST=Single;DP=57;NP=10;PC=0.003;Gene=SMPD4/NM_001171083.2/0;CC=c.763-924_763-923insA;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.982-924_982-923insA;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.1069-924_1069-923insA;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,T,CT,D:54:22:8:7:41,1,6,6:1307,10,262,225:0.00,-0.16,14.72,14.52:0.00,-0.11,2.12,3.57:0.00,-0.05,12.60,10.95:0.00,0.00,0.83,0.00:0.00,0.00,0.82,0.00:0.00,0.00,0.97,0.00:60,60,60,70:9.9,30.0,9.2,13.7:0,0,2,1:0,0,0,0:101,66,108,107:46,85,35,44:25,0,11,17:-,NM_017951.4(SMPD4) c.1069-924_1069-923insA:-,NOT_FOUND:-,NOT_FOUND 2 130918846 . C . . NT END=130921946;NT GT ./. 2 130922019 . C . . NT END=130925030;NT GT ./. 2 130925088 rs10909567 C T 388 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.6402,T/0.3598;Gene=SMPD4/NM_001171083.2/0;CC=c.633G>A;ProtCh=p.T211=;VC=Silent;Gene=SMPD4/NM_017751.4/0;CC=c.852G>A;ProtCh=p.T284=;VC=Silent;Gene=SMPD4/NM_017951.4/1;CC=c.852G>A;ProtCh=p.T284=;VC=Silent;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:105:75:0:0:105:3384:388.38:220.51:167.86:1.00:1.00:1.00:60:38.7:0:0:76:66:36:NM_017951.4(SMPD4) c.852G>A (p.(=)),NM_017951.4(SMPD4) c.852G>A (p.(=)):0.37,0.37:0.326849,0.326849 2 130925164 . C . . NT END=130929921;NT GT ./. 2 130929931 rs144353633 G A 138 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=6;PC=1.000;Gene=SMPD4/NM_001171083.2/0;CC=c.548C>T;ProtCh=p.P183L;VC=Missense;Gene=SMPD4/NM_017751.4/0;CC=c.767C>T;ProtCh=p.P256L;VC=Missense;Gene=SMPD4/NM_017951.4/1;CC=c.767C>T;ProtCh=p.P256L;VC=Missense;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:92:0:0:47,61:1480,1966:138.26,0.00:89.71,0.00:48.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,10.0:0,0:0,0:57,52:90,95:23,36:NM_017951.4(SMPD4) c.767C>T (p.Pro256Leu),-:NOT_FOUND,-:0.001,- 2 130930074 . C . . NT END=130930197;NT GT ./. 2 130930251 . C . . NT END=130930359;NT GT ./. 2 130930469 . C . . NT END=130930851;NT GT ./. 2 130930819 rs60309319 C T 135 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6402,T/0.3598;Gene=SMPD4/NM_001171083.2/0;CC=c.244-351G>A;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.462+33G>A;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.462+33G>A;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:30:0:0:37:1178:135.37:91.28:44.10:1.00:1.00:1.00:51:48.0:0:0:43:106:20:NM_017951.4(SMPD4) c.462+33G>A,NM_017951.4(SMPD4) c.462+33G>A:0.36,0.36:0.327464,0.327464 2 130930928 . C . . NT END=130931086;NT GT ./. 2 130931230 . C . . NT END=130932486;NT GT ./. 2 130931545 rs70991393 T TA 8 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=417;Gene=SMPD4/NM_001171083.2/0;CC=c.243+941_243+942insT;VC=Intron;Gene=SMPD4/NM_017751.4/0;CC=c.244-317_244-316insT;VC=Intron;Gene=SMPD4/NM_017951.4/1;CC=c.244-317_244-316insT;VC=Intron;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TA:4:0:3:0:1,3:31,80:0.00,8.45:0.00,0.00:0.00,8.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:10.0,73.0:0,0:0,0:114,60:37,89:0,60:-,NM_017951.4(SMPD4) c.244-317_244-316insT:-,0.46:-,NOT_FOUND 2 130932574 . C . . NT END=130934126;NT GT ./. 2 130934211 . C . . NT END=130938868;NT GT ./. 2 130939175 . C . . NT END=130939334;NT GT ./. 2 130939288 rs1968676 A G 698 nt VT=SNV;PN=G;NN=G;SST=Single;DP=197;DB;DBA=NA;PAF=A/0.5188,G/0.4812;PC=0.003;Gene=SMPD4/NM_001171083.2/0;CC=c.-114T>C;VC=5UTR;Gene=SMPD4/NM_017751.4/0;CC=c.-114T>C;VC=5UTR;Gene=SMPD4/NM_017951.4/1;CC=c.-114T>C;VC=5UTR;Gene=SMPD4/NR_033231.2/0;VC=NonCoding;Gene=SMPD4/NR_033232.2/0;VC=NonCoding;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:197:121:0:0:2,1,194:47,8,6098:0.00,0.03,697.60:0.00,0.03,353.06:0.00,-0.00,344.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:44.5,64.0,60.7:0,0,0:0,0,0:57,125,70:93,12,76:15,0,38:NM_017951.4(SMPD4) c.-114T>C,NM_017951.4(SMPD4) c.-114T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 130939348 rs1817097 G A 741 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=209;DB;DBA=NA;PAF=G/0.6398,A/0.3602;PC=0.001;Gene=SMPD4/NR_033230.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:209:132:0:0:208,1:6447,31:740.69,0.00:360.62,0.00:380.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.7,47.0:0,0:0,0:72,133:75,18:35,0:NM_017951.4(SMPD4) c.-156-u18C>T,NM_017951.4(SMPD4) c.-156-u18C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 2 130939371 . G . . NT END=130939500;NT GT ./. 2 130940026 . G . . NT END=130940199;NT GT ./. 2 130940090 rs1968675 G T 1097 nt VT=SNV;PN=C;NN=C;SST=Single;DP=303;DB;DBA=NA;PAF=G/0.64,T/0.36;Gene=SMPD4/NR_033230.2/0;VC=NonCoding;Gene=MZT2B/NM_025029.3/1;CC=c.170+65G>T;VC=Intron;DM=MZT2B/MOZART2;DM=MZT2B/MOZART2;DM=MZT2B/MOZART2;DM=MZT2B/MOZART2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:303:176:0:0:1,3,299:34,28,9606:1.37,0.00,1097.24:0.69,0.00,510.55:0.68,0.00,586.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:34.0,44.0,42.5:0,0,0:0,0,0:23,7,79:128,144,65:0,7,39:NM_025029.3(MZT2B) c.170+65G>T,NM_025029.3(MZT2B) c.170+65G>T:0.37,0.37:NOT_FOUND,NOT_FOUND 2 130940349 . G . . NT END=130941359;NT GT ./. 2 130941034 rs34409208 T G 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6012,G/0.3988;Gene=MZT2B/NM_025029.3/1;CC=c.319+686T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:351:39.87:39.87:0.00:1.00:1.00:0.00:60:68.1:0:0:41:108:34:NM_025029.3(MZT2B) c.319+686T>G,NM_025029.3(MZT2B) c.319+686T>G:0.37,0.37:NOT_FOUND,NOT_FOUND 2 130941065 rs6737226 T C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.01058,C/0.9894;Gene=MZT2B/NM_025029.3/1;CC=c.319+717T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:357:41.35:41.35:0.00:1.00:1.00:0.00:60:60.2:0:0:42:108:27:NM_025029.3(MZT2B) c.319+717T>C,NM_025029.3(MZT2B) c.319+717T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 130941820 rs3748890 A G 636 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=A/0.5074,G/0.4926;Gene=MZT2B/NM_025029.3/1;CC=c.319+1472A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:167:118:0:0:167:5563:635.88:355.82:280.06:1.00:1.00:1.00:60:38.3:0:0:79:70:35:NM_025029.3(MZT2B) c.319+1472A>G,NM_025029.3(MZT2B) c.319+1472A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 130942184 rs1562910 G A 682 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=186;DB;DBA=NA;PAF=G/0.01058,A/0.9894;Gene=MZT2B/NM_025029.3/1;CC=c.319+1836G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:186:117:0:0:184,1,1:5965,8,11:681.65,0.03,0.00:335.02,0.00,0.00:346.63,0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.2,21.0,191.0:0,0,0:0,0,0:78,59,78:68,91,73:33,0,0:NM_025029.3(MZT2B) c.319+1836G>A,NM_025029.3(MZT2B) c.319+1836G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 130942484 . t . . NT END=130948041;NT GT ./. 2 130947848 rs3856377 C T 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.6008,T/0.3992;PC=0.001;Gene=MZT2B/NM_025029.3/1;CC=c.320-194C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:621:72.44:72.44:0.00:1.00:1.00:0.00:60:66.7:0:0:68:81:31:NM_025029.3(MZT2B) c.320-194C>T,NM_025029.3(MZT2B) c.320-194C>T:0.4,0.4:NOT_FOUND,NOT_FOUND 2 130947887 rs1975671 G C 140 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.6302,C/0.3698;Gene=MZT2B/NM_025029.3/1;CC=c.320-155G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:37:0:0:37:1228:140.42:140.42:0.00:1.00:1.00:0.00:60:59.8:0:0:39:112:26:NM_025029.3(MZT2B) c.320-155G>C,NM_025029.3(MZT2B) c.320-155G>C:0.37,0.37:NOT_FOUND,NOT_FOUND 2 130948301 . G . . NT END=130949403;NT GT ./. 2 130948303 rs12612244 T C 469 nt VT=SNV;PN=A;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=T/0.5827,C/0.4173 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:141:55:0:0:1,140:26,4036:0.97,469.05:0.00,159.04:0.97,310.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:162.0,73.8:0,0:0,0:67,100:75,36:0,33:chr2 g.130948302T>C (intergenic),chr2 g.130948302T>C (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 2 130948318 rs201277155 T TTTG 85 nt VT=INS;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=27;PC=0.461;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTG:113:43:33:0:80,33:2480,994:0.00,85.50:0.00,21.87:0.00,63.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:93.0,83.2:35,0:0,0:108,87:33,56:27,18:-,chr2 g.130948318_130948319insTTG (intergenic):-,0.33:-,NOT_FOUND 2 130948319 rs372021310 T TTG 35 nt VT=INS;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=12;PC=0.642;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTG:111:40:16:0:96,15:3015,481:0.00,34.68:0.00,15.39:0.00,19.29:0.00,1.00:0.00,0.98:0.00,1.00:60,60:88.1,103.2:51,1:0,0:100,85:38,63:24,26:-,chr2 g.130948319_130948320insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130948321 rs114232766 T G 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=40;PC=0.814 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:102:32:0:0:29,73:867,2332:74.08,0.00:34.63,0.00:39.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:98.1,88.9:1,59:0,0:137,91:14,54:8,22:chr2 g.130948320T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 130948327 rs10175962 G T 380 nt VT=SNV;PN=T;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.4784,T/0.5216;NP=292;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:103:37:0:3:103:3306:379.67:99.81:279.86:1.00:1.00:1.00:60:92.4:0:0:105:38:20:chr2 g.130948326G>T (intergenic),chr2 g.130948326G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130948459 rs6705558 A G 134 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.5831,G/0.4169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G:38:0:0:0:38:1160:133.93:0.00:133.93:1.00:0.00:1.00:60:48.8:0:0:112:38:26:chr2 g.130948458A>G (intergenic),chr2 g.130948458A>G (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 2 130948574 rs34156056 G A 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6314,A/0.3686;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:269:31.12:0.00:31.12:1.00:0.00:1.00:60:66.1:0:0:110:41:30:chr2 g.130948573G>A (intergenic),chr2 g.130948573G>A (intergenic):0.38,0.38:NOT_FOUND,NOT_FOUND 2 130949303 rs10200523 T C 399 nt VT=SNV;PN=A;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.506,C/0.494 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:108:107:0:0:108:3474:398.65:388.22:10.43:1.00:1.00:1.00:60:55.9:0:0:40:110:29:chr2 g.130949302T>C (intergenic),chr2 g.130949302T>C (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 2 130949411 rs10208844 G T 1009 lc VT=SNV;PN=T;NN=C;SST=Single;DP=278;DB;DBA=NA;PAF=G/0.02057,T/0.9794;PC=0.998;Gene=TUBA3E/NM_207312.2/1;CC=c.1346C>A;ProtCh=p.A449E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:278:214:0:0:2,1,275:22,10,8812:0.19,0.00,1009.34:0.19,0.00,618.23:-0.00,0.00,391.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:58,60,60:86.0,182.0,63.3:0,0,0:0,0,0:45,66,64:106,85,84:6,0,28:NM_207312.2(TUBA3E) c.=,NM_207312.2(TUBA3E) c.=:0.9,0.9:0.947769,0.947769 2 130949491 rs60154251 G A 914 lc VT=SNV;PN=C;NN=C;SST=Single;DP=267;DB;DBA=NA;PAF=NA;PC=0.003;Gene=TUBA3E/NM_207312.2/1;CC=c.1266C>T;ProtCh=p.R422=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:267:154:0:0:262,5:7922,51:914.20,0.96:410.73,0.69:503.47,0.26:1.00,0.00:1.00,0.00:1.00,0.00:59,60:72.4,94.4:0,0:0,0:89,126:58,25:38,20:NM_207312.2(TUBA3E) c.1266C>T (p.(=)),NM_207312.2(TUBA3E) c.1266C>T (p.(=)):0.4,0.4:0.379286,0.379286 2 130949553 rs1052422 A G 837 lc VT=SNV;PN=C;NN=C;SST=Single;DP=240;DB;DBA=NA;PAF=NA;PC=0.997;Gene=TUBA3E/NM_207312.2/1;CC=c.1204T>C;ProtCh=p.W402R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:240:134:0:0:1,237,2:34,7279,28:0.00,836.67,0.47:0.00,385.74,-0.00:0.00,450.93,0.48:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,43,43:0.0,59.9,49.5:0,0,0:0,0,0:34,74,111:116,77,40:0,42,26:NM_207312.2(TUBA3E) c.1204T>C (p.Trp402Arg),NM_207312.2(TUBA3E) c.1204T>C (p.Trp402Arg):0.34,0.34:0.172799,0.172799 2 130949701 . C . . NT END=130951358;NT GT ./. 2 130951179 rs34918027 CA C 43 idl,rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=CA/0.3998,C/0.6002;NP=2;PC=0.089;Gene=TUBA3E/NM_207312.2/1;CC=c.1056+179delT;VC=Intron;DM=TUBA3E/Tubulin_C;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CA,I,C:18:22:1:18:3,1,14:103,34,536:0.00,2.47,43.30:0.00,2.47,43.30:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:10.7,0.0,46.6:0,0,4:0,0,0:139,58,30:11,92,120:1,0,25:-,NM_207312.2(TUBA3E) c.1056+179delT:-,NOT_FOUND:-,NOT_FOUND 2 130951548 rs1052319 G A 1393 lc VT=SNV;PN=C;NN=G;SST=Single;DP=372;DB;DBA=NA;PAF=NA;Gene=TUBA3E/NM_207312.2/1;CC=c.867C>T;ProtCh=p.A289=;VC=Silent;DM=TUBA3E/Tubulin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:372:244:0:0:370,1,1:12175,7,12:1392.70,0.01,0.05:741.52,0.00,0.05:651.18,0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,53:114.9,106.0,229.0:0,0,0:0,0,0:74,15,15:75,136,134:37,0,0:NM_207312.2(TUBA3E) c.867C>T (p.(=)),NM_207312.2(TUBA3E) c.867C>T (p.(=)):0.8,0.8:NOT_FOUND,NOT_FOUND 2 130951566 rs7340193 G A 1381 lc VT=SNV;PN=C;NN=T;SST=Single;DP=385;DB;DBA=NA;PAF=NA;PC=0.299;Gene=TUBA3E/NM_207312.2/1;CC=c.849C>T;ProtCh=p.H283=;VC=Silent;DM=TUBA3E/Tubulin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:385:254:0:0:381,1,2,1:12043,11,16,13:1381.29,0.04,0.00,0.06:715.99,0.04,0.00,0.07:665.30,-0.00,0.00,-0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,42,52,56:120.0,134.0,180.0,137.0:0,0,0,0:0,0,0,0:79,66,59,133:72,85,76,13:40,0,26,0:NM_207312.2(TUBA3E) c.849C>T (p.(=)),NM_207312.2(TUBA3E) c.849C>T (p.(=)):0.78,0.78:NOT_FOUND,NOT_FOUND 2 130951581 rs1052312 A G 1300 lc VT=SNV;PN=C;NN=G;SST=Single;DP=381;DB;DBA=NA;PAF=A/0.5312,G/0.4688;Gene=TUBA3E/NM_207312.2/1;CC=c.834T>C;ProtCh=p.A278=;VC=Silent;DM=TUBA3E/Tubulin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:381:266:0:0:2,1,375,3:49,5,11290,33:0.00,0.00,1300.43,0.30:0.00,-0.00,699.13,0.31:0.00,0.01,601.31,-0.01:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:56,52,60,51:51.0,99.0,117.3,127.3:0,0,0,0:0,0,0,0:33,108,58,100:115,43,91,47:29,0,38,4:NM_207312.2(TUBA3E) c.834T>C (p.(=)),NM_207312.2(TUBA3E) c.834T>C (p.(=)):0.42,0.42:NOT_FOUND,NOT_FOUND 2 130951584 rs7340507 T C 1299 lc VT=SNV;PN=C;NN=G;SST=Single;DP=379;DB;DBA=NA;PAF=T/0.5312,C/0.4688;Gene=TUBA3E/NM_207312.2/1;CC=c.831A>G;ProtCh=p.S277=;VC=Silent;DM=TUBA3E/Tubulin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:379:268:0:0:1,376,2:13,11267,50:0.06,1299.35,0.00:-0.00,747.02,0.00:0.07,552.34,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,60,56:116.0,120.7,51.0:0,0,0:0,0,0:69,72,36:82,76,112:0,39,29:NM_207312.2(TUBA3E) c.831A>G (p.(=)),NM_207312.2(TUBA3E) c.831A>G (p.(=)):0.42,0.42:0.410349,0.410349 2 130951754 rs13000249 G T 1151 lc VT=SNV;PN=C;NN=T;SST=Single;DP=311;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA3E/NM_207312.2/1;CC=c.661C>A;ProtCh=p.R221S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:311:162:0:0:2,309:40,10084:0.00,1151.43:0.00,452.34:0.00,699.10:0.00,1.00:0.00,1.00:0.00,1.00:44,60:89.5,44.8:0,0:0,0:50,103:85,47:26,27:NM_207312.2(TUBA3E) c.661C>A (p.Arg221Ser),NM_207312.2(TUBA3E) c.661C>A (p.Arg221Ser):0.34,0.34:NOT_FOUND,NOT_FOUND 2 130951848 rs2259488 T C 607 lc VT=SNV;PN=T;NN=A;SST=Single;DP=171;DB;DBA=NA;PAF=NA;PC=0.973;Gene=TUBA3E/NM_207312.2/1;CC=c.567A>G;ProtCh=p.L189=;VC=Silent;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:171:55:0:0:4,166,1:37,5323,32:0.69,607.43,0.00:0.29,188.03,0.00:0.41,419.39,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:43,43,33:69.0,61.7,0.0:0,0,0:0,0,0:27,59,118:124,90,3:13,40,0:NM_207312.2(TUBA3E) c.567A>G (p.(=)),NM_207312.2(TUBA3E) c.567A>G (p.(=)):0.32,0.32:NOT_FOUND,NOT_FOUND 2 130951949 rs62165074 G A 664 lc VT=SNV;PN=C;NN=C;SST=Single;DP=192;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA3E/NM_207312.2/1;CC=c.466C>T;ProtCh=p.R156W;VC=Missense;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:192:119:0:0:190,1,1:5747,9,12:663.66,0.04,0.09:318.01,0.00,0.00:345.66,0.04,0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:45,2,27:64.8,90.0,102.0:0,0,0:0,0,0:82,108,10:67,43,141:31,0,0:NM_207312.2(TUBA3E) c.466C>T (p.Arg156Trp),NM_207312.2(TUBA3E) c.466C>T (p.Arg156Trp):0.4,0.4:0.378173,0.378173 2 130952038 rs13000721 G A 437 lc VT=SNV;PN=C;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA3E/NM_207312.2/1;CC=c.377C>T;ProtCh=p.A126V;VC=Missense;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:126:58:0:0:125,1:3781,8:436.86,0.05:156.77,0.00:280.09,0.05:1.00,0.00:1.00,0.00:1.00,0.00:43,43:88.5,106.0:0,0:0,0:110,0:40,151:27,0:NM_207312.2(TUBA3E) c.377C>T (p.Ala126Val),NM_207312.2(TUBA3E) c.377C>T (p.Ala126Val):0.33,0.33:NOT_FOUND,NOT_FOUND 2 130952040 . C . . NT END=130952651;NT GT ./. 2 130952053 rs2463340 G C 427 nt VT=SNV;PN=A;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TUBA3E/NM_207312.2/1;CC=c.376-14C>G;VC=Intron;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:113:43:0:0:113:3736:427.44:120.97:306.47:1.00:1.00:1.00:49:93.4:0:0:97:53:31:NM_207312.2(TUBA3E) c.376-14C>G,NM_207312.2(TUBA3E) c.376-14C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130952111 rs62165075 G A 236 nt VT=SNV;PN=C;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.6362,A/0.3638;NP=1098;Gene=TUBA3E/NM_207312.2/1;CC=c.376-72C>T;VC=Intron;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:13:0:0:66:2045:235.94:31.24:204.70:1.00:1.00:1.00:55:82.6:0:0:89:61:35:NM_207312.2(TUBA3E) c.376-72C>T,NM_207312.2(TUBA3E) c.376-72C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130952498 rs1809107 G A 146 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.5841,A/0.4159;PC=0.001;Gene=TUBA3E/NM_207312.2/1;CC=c.375+154C>T;VC=Intron;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:A:43:43:0:0:43:1254:145.68:145.68:0.00:1.00:1.00:0.00:60:69.4:0:0:38:113:27:NM_207312.2(TUBA3E) c.375+154C>T,NM_207312.2(TUBA3E) c.375+154C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 2 130952540 rs56151061 C T 229 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.5849,T/0.4151;Gene=TUBA3E/NM_207312.2/1;CC=c.375+112G>A;VC=Intron;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C,G,T:65:62:0:0:1,1,63:26,5,2018:0.00,0.03,229.31:0.00,0.03,227.33:0.00,-0.01,1.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:10,53,60:12.0,129.0,60.1:0,0,0:0,0,0:24,56,50:126,90,101:0,0,36:NM_207312.2(TUBA3E) c.375+112G>A,NM_207312.2(TUBA3E) c.375+112G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 2 130952718 rs3853852 G A 644 lc VT=SNV;PN=C;NN=T;SST=Single;DP=175;DB;DBA=NA;PAF=G/0.5867,A/0.4133;PC=0.021;Gene=TUBA3E/NM_207312.2/1;CC=c.309C>T;ProtCh=p.Y103=;VC=Silent;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:175:120:0:0:173,2:5650,34:643.73,0.00:360.15,0.00:283.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,55:68.8,88.5:0,0:0,0:69,28:79,115:36,10:NM_207312.2(TUBA3E) c.309C>T (p.(=)),NM_207312.2(TUBA3E) c.309C>T (p.(=)):0.37,0.37:NOT_FOUND,NOT_FOUND 2 130952725 rs3863907 C T 648 lc VT=SNV;PN=A;NN=T;SST=Single;DP=179;DB;DBA=NA;PAF=C/0.4547,T/0.5453;PC=1.000;Gene=TUBA3E/NM_207312.2/1;CC=c.302G>A;ProtCh=p.S101N;VC=Missense;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:179:123:0:0:1,178:33,5664:0.00,648.44:0.00,368.78:0.00,279.66:0.00,1.00:0.00,1.00:0.00,1.00:55,60:0.0,68.4:0,0:0,0:46,68:105,81:0,38:NM_207312.2(TUBA3E) c.302G>A (p.Ser101Asn),NM_207312.2(TUBA3E) c.302G>A (p.Ser101Asn):0.46,0.46:NOT_FOUND,NOT_FOUND 2 130952801 . C . . NT END=130953721;NT GT ./. 2 130953022 rs7419565 T C 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.5841,C/0.4159;Gene=TUBA3E/NM_207312.2/1;CC=c.227-222A>G;VC=Intron;DM=TUBA3E/Tubulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:0:0:0:22:702:80.62:0.00:80.62:1.00:0.00:1.00:60:40.2:0:0:106:44:18:NM_207312.2(TUBA3E) c.227-222A>G,NM_207312.2(TUBA3E) c.227-222A>G:0.41,0.41:NOT_FOUND,NOT_FOUND 2 130953945 . C . . NT END=130955930;NT GT ./. 2 130955934 . G . . NT END=130959897;NT GT ./. 2 130960013 . G . . NT END=130961741;NT GT ./. 2 130960023 rs4663031 T C 623 nt VT=SNV;PN=T;NN=G;SST=Single;DP=176;DB;DBA=NA;PAF=T/0.5004,C/0.4996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:176:76:0:0:175,1:5422,10:623.33,0.00:178.67,0.00:444.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,59.0:0,0:0,0:107,58:44,81:27,0:NM_207312.2(TUBA3E) c.-101-u3989A>G,NM_207312.2(TUBA3E) c.-101-u3989A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 130961729 rs573067692 A AT 174 idl,rn VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=47;PC=0.016;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,AT:61:54:57:0:7,54:189,1676:0.00,173.93:0.00,107.41:0.00,66.52:0.00,1.00:0.00,1.00:0.00,1.00:50,52:6.1,5.4:2,3:0,0:103,80:47,69:16,17:-,NM_207312.2(TUBA3E) c.-101-u5696_-101-u5695insA:-,NOT_FOUND:-,NOT_FOUND 2 130961770 . A . . NT END=131096692;NT GT ./. 2 130970153 rs2443623 C T 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.775 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:2:0:0:13:412:47.36:5.87:41.50:1.00:1.00:1.00:56:46.2:0:0:91:60:26:chr2 g.130970152C>T (intergenic),chr2 g.130970152C>T (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 2 130970483 rs201919011 C CT 77 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1420;PC=1.000;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:C,CT,D:34:27:28:2:7,25,2:216,800,34:0.00,76.57,2.34:0.00,46.64,2.39:0.00,29.93,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:50,42,40:14.3,14.2,11.5:1,3,0:0,0,0:92,58,33:58,92,117:28,29,13:-,chr2 g.130970483_130970484insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130970818 rs62165089 G A 169 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.6773,A/0.3227;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A,G:46:24:0:0:45,1:1492,34:168.57,0.00:71.07,0.00:97.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,27:66.7,25.0:0,0:0,0:79,103:72,48:40,0:chr2 g.130970817G>A (intergenic),chr2 g.130970817G>A (intergenic):0.31,0.31:NOT_FOUND,NOT_FOUND 2 130970889 rs62165111 G A 211 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.057 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A:57:29:0:0:57:1834:210.51:94.22:116.29:1.00:1.00:1.00:60:81.9:0:0:64:87:39:chr2 g.130970888G>A (intergenic),chr2 g.130970888G>A (intergenic):0.33,0.33:NOT_FOUND,NOT_FOUND 2 130970911 rs12471586 A G 205 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.4647,G/0.5353;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:59:36:0:0:59:1776:205.33:110.97:94.36:1.00:1.00:1.00:60:75.0:0:0:62:88:37:chr2 g.130970910A>G (intergenic),chr2 g.130970910A>G (intergenic):0.5,0.5:NOT_FOUND,NOT_FOUND 2 130971063 rs12467443 C T 366 nt VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.5098,T/0.4902;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:98:68:0:0:98:3192:365.81:167.52:198.30:1.00:1.00:1.00:60:89.3:0:0:77:73:28:chr2 g.130971062C>T (intergenic),chr2 g.130971062C>T (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 2 130971093 rs77768788 C T 312 nt VT=SNV;PN=T;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:86:54:0:0:86:2710:311.94:121.61:190.33:1.00:1.00:1.00:55:99.3:0:0:95:51:26:chr2 g.130971092C>T (intergenic),chr2 g.130971092C>T (intergenic):0.13,0.13:NOT_FOUND,NOT_FOUND 2 130971115 rs7586630 T C 269 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:39:0:0:70:2355:268.88:91.12:177.76:1.00:1.00:1.00:55:108.6:0:0:108:38:20:chr2 g.130971114T>C (intergenic),chr2 g.130971114T>C (intergenic):0.5,0.5:NOT_FOUND,NOT_FOUND 2 130971177 rs574408978 A AG 83 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=265;PC=0.041;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G,AG:32:6:26:0:5,1,26:141,8,766:0.00,0.10,82.78:0.00,-0.01,8.10:0.00,0.10,74.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:101.8,82.0,102.1:1,1,0:0,0,0:143,23,100:3,128,50:5,0,24:-,chr2 g.130971177_130971178insG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 130971201 rs7570176 C G 115 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=110 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:0:0:0:31:1006:115.33:0.00:115.33:1.00:0.00:1.00:60:100.6:0:0:96:55:35:chr2 g.130971200C>G (intergenic),chr2 g.130971200C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 130971222 rs74651713 G T 73 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.264 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:0:0:0:20:637:73.21:0.00:73.21:1.00:0.00:1.00:60:92.0:0:0:95:54:16:chr2 g.130971221G>T (intergenic),chr2 g.130971221G>T (intergenic):0.14,0.14:NOT_FOUND,NOT_FOUND 2 130971308 rs74479345 G A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,T:8:0:0:0:7,1:152,13:18.05,0.90:0.00,0.00:18.05,0.90:1.00,0.00:0.00,0.00:1.00,0.00:60,28:70.1,90.0:0,0:0,0:85,114:65,37:47,0:chr2 g.130971307G>A (intergenic),chr2 g.130971307G>A (intergenic):0.37,0.37:NOT_FOUND,NOT_FOUND 2 130987792 rs12992461 G A 129 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.7196,A/0.2804;PC=0.936 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:24:0:0:34:1127:128.90:81.54:47.36:1.00:1.00:1.00:60:37.6:0:0:51:99:27:chr2 g.130987791G>A (intergenic),chr2 g.130987791G>A (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 2 131042433 rs7586789 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5144,G/0.4856 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:126:14.51:5.57:8.94:1.00:1.00:1.00:60:37.5:0:0:61:83:20:chr2 g.131042432A>G (intergenic),chr2 g.131042432A>G (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 2 131067854 rs10928969 C T 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3754,T/0.6246;PC=0.033 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:4:0:0:7:239:27.24:11.48:15.76:1.00:1.00:1.00:60:40.7:0:0:57:93:14:chr2 g.131067853C>T (intergenic),chr2 g.131067853C>T (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 2 131096806 . C . . NT END=131097132;NT GT ./. 2 131097140 . c . . NT END=131098480;NT GT ./. 2 131098613 . C . . NT END=131099239;NT GT ./. 2 131099323 . C . . NT END=131099413;NT GT ./. 2 131099518 . C . . NT END=131099587;NT GT ./. 2 131099803 . C . . NT END=131100505;NT GT ./. 2 131100536 . G . . NT END=131100658;NT GT ./. 2 131100768 . G . . NT END=131102201;NT GT ./. 2 131102286 . G . . NT END=131102948;NT GT ./. 2 131103059 . G . . NT END=131103139;NT GT ./. 2 131103273 . G . . NT END=131103351;NT GT ./. 2 131103507 . G . . NT END=131103590;NT GT ./. 2 131103686 . G . . NT END=131103773;NT GT ./. 2 131103848 . G . . NT END=131103928;NT GT ./. 2 131104042 . G . . NT END=131113680;NT GT ./. 2 131113774 . G . . NT END=131116439;NT GT ./. 2 131116549 . G . . NT END=131116805;NT GT ./. 2 131116883 . G . . NT END=131116969;NT GT ./. 2 131117066 . G . . NT END=131117180;NT GT ./. 2 131117220 . G . . NT END=131126705;NT GT ./. 2 131126775 . G . . NT END=131127337;NT GT ./. 2 131127401 . G . . NT END=131127620;NT GT ./. 2 131127764 . G . . NT END=131128129;NT GT ./. 2 131128197 . G . . NT END=131128277;NT GT ./. 2 131128356 . G . . NT END=131128447;NT GT ./. 2 131128538 . G . . NT END=131128771;NT GT ./. 2 131128861 . G . . NT END=131129829;NT GT ./. 2 131130057 . G . . NT END=131130445;NT GT ./. 2 131130521 . G . . NT END=131130729;NT GT ./. 2 131130798 . G . . NT END=131220388;NT GT ./. 2 131220502 . C T 28 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=10;NP=2;PC=1.000;Gene=POTEI/NM_001277406.1/1;CC=c.3115G>A;ProtCh=p.V1039M;VC=Missense;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T:10:9:0:0:1,9:20,250:0.00,27.86:0.00,28.84:0.00,-0.99:0.00,1.00:0.00,1.00:0.00,0.93:24,25:86.0,39.3:0,0:0,0:53,131:98,11:0,11:XM_928585.3(POTEI) c.3115G>A (p.Val1039Met),XM_928585.3(POTEI) c.3115G>A (p.Val1039Met):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131220828 rs190931019 G A 48 lc VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9852,A/0.01478;PC=1.000;Gene=POTEI/NM_001277406.1/1;CC=c.2789C>T;ProtCh=p.A930V;VC=Missense;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:A,G:15:8:0:0:14,1:429,26:47.98,0.00:20.76,0.00:27.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,25:64.9,43.0:0,0:0,0:144,22:3,127:4,0:XM_928585.3(POTEI) c.2789C>T (p.Ala930Val),XM_928585.3(POTEI) c.2789C>T (p.Ala930Val):0.12,0.12:NOT_FOUND,NOT_FOUND 2 131220831 rs201878083 A G 24 lc VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1597,G/0.8403;NP=3;PC=1.000;Gene=POTEI/NM_001277406.1/1;CC=c.2786T>C;ProtCh=p.M929T;VC=Missense;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:5:0:0:7:207:24.03:16.78:7.25:1.00:1.00:1.00:25:76.1:0:0:108:43:37:XM_928585.3(POTEI) c.2786T>C (p.Met929Thr),XM_928585.3(POTEI) c.2786T>C (p.Met929Thr):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131220864 rs147268452 T A 44 lc VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3149,A/0.6851;NP=443;PC=1.000;Gene=POTEI/NM_001277406.1/1;CC=c.2753A>T;ProtCh=p.Y918F;VC=Missense;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,T:14:9:0:0:13,1:391,11:43.84,0.00:26.52,0.00:17.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:31,25:56.4,43.0:0,0:0,0:25,58:126,91:16,0:XM_928585.3(POTEI) c.2753A>T (p.Tyr918Phe),XM_928585.3(POTEI) c.2753A>T (p.Tyr918Phe):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131221102 rs139258542 T C 604 lc VT=SNV;PN=A;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=3061;PC=1.000;Gene=POTEI/NM_001277406.1/1;CC=c.2515A>G;ProtCh=p.M839V;VC=Missense;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:167:152:0:0:1,165,1:11,5289,34:0.08,604.41,0.00:-0.00,510.90,0.00:0.08,93.51,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:25,43,27:72.0,64.1,0.0:0,0,0:0,0,0:96,46,96:55,104,55:0,34,0:XM_928585.3(POTEI) c.2515A>G (p.Met839Val),XM_928585.3(POTEI) c.2515A>G (p.Met839Val):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131221170 rs144934754 C T 1172 lc VT=SNV;PN=G;NN=G;SST=Single;DP=323;DB;DBA=NA;PAF=NA;PC=1.000;Gene=POTEI/NM_001277406.1/1;CC=c.2447G>A;ProtCh=p.R816H;VC=Missense;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:323:254:0:0:1,322:10,10197:0.03,1172.43:0.03,702.26:0.00,470.17:0.00,1.00:0.00,1.00:0.00,1.00:27,46:211.0,47.6:0,0:0,0:78,42:39,106:0,23:XM_928585.3(POTEI) c.2447G>A (p.Arg816His),XM_928585.3(POTEI) c.2447G>A (p.Arg816His):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131221445 rs201589859 G A 281 lc VT=SNV;PN=C;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.1434,A/0.8566;PC=0.986;Gene=POTEI/NM_001277406.1/1;CC=c.2172C>T;ProtCh=p.D724=;VC=Silent;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A,G:88:11:0:0:85,3:2465,101:280.86,0.00:39.36,0.00:241.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,24:52.1,14.0:0,0:0,0:103,103:46,47:26,2:XM_928585.3(POTEI) c.2172C>T (p.(=)),XM_928585.3(POTEI) c.2172C>T (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131221499 . G A 98 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=29;NP=20;PC=0.997;Gene=POTEI/NM_001277406.1/1;CC=c.2118C>T;ProtCh=p.A706=;VC=Silent;DM=POTEI/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A,C:29:1:0:0:28,1:850,15:97.82,0.61:0.00,0.61:97.82,0.00:1.00,0.00:0.98,0.00:1.00,0.00:40,24:73.4,40.0:0,0:0,0:121,150:29,1:20,0:XM_928585.3(POTEI) c.2118C>T (p.(=)),XM_928585.3(POTEI) c.2118C>T (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131221663 rs533236279 G A 26 end,lc VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2929,A/0.7071;NP=14;PC=0.001;Gene=POTEI/NM_001277406.1/1;CC=c.1954C>T;ProtCh=p.R652W;VC=Missense;DM=POTEI/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:1:0:0:7:225:25.84:3.98:21.86:1.00:1.00:1.00:25:64.7:0:0:143:8:2:XM_928585.3(POTEI) c.1954C>T (p.Arg652Trp),XM_928585.3(POTEI) c.1954C>T (p.Arg652Trp):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131221668 rs551620221 G A 20 end;mq,lc VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2919,A/0.7081;NP=7;Gene=POTEI/NM_001277406.1/1;CC=c.1949C>T;ProtCh=p.T650M;VC=Missense;DM=POTEI/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:1:0:0:6:176:20.46:3.98:16.48:1.00:1.00:1.00:19:70.2:0:0:148:3:1:XM_928585.3(POTEI) c.1949C>T (p.Thr650Met),XM_928585.3(POTEI) c.1949C>T (p.Thr650Met):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131221718 . C . . NT END=131223224;NT GT ./. 2 131223346 . C . . NT END=131231950;NT GT ./. 2 131232011 rs202069604 C T 105 lc VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=183;Gene=POTEI/NM_001277406.1/1;CC=c.1718G>A;ProtCh=p.R573K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:8:0:0:12,32:406,1005:0.00,104.53:0.00,22.28:0.00,82.24:0.00,1.00:0.00,1.00:0.00,1.00:24,40:6.8,33.4:0,0:0,0:121,55:30,95:6,31:-,XM_928585.3(POTEI) c.1718G>A (p.Arg573Lys):-,NOT_FOUND:-,NOT_FOUND 2 131232133 . c . . NT END=131232479;NT GT ./. 2 131232182 . C T 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;NP=14;Gene=POTEI/NM_001277406.1/1;CC=c.1597-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C,T:11:0:0:0:1,10:9,295:0.00,32.96:0.00,0.00:0.00,32.96:0.00,1.00:0.00,0.00:0.00,1.00:24,40:89.0,34.6:0,0:0,0:59,113:92,38:0,29:XM_928585.3(POTEI) c.1597-50G>A,XM_928585.3(POTEI) c.1597-50G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131232387 rs62163586 A G 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=646;PC=0.001;Gene=POTEI/NM_001277406.1/1;CC=c.1596+93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:202:23.48:23.48:0.00:1.00:1.00:0.00:40:32.0:0:0:78:73:35:XM_928585.3(POTEI) c.1596+93T>C,XM_928585.3(POTEI) c.1596+93T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131232525 . C . . NT END=131234203;NT GT ./. 2 131232617 rs200967759 G T 115 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1185;PC=0.133;Gene=POTEI/NM_001277406.1/1;CC=c.1552-93C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C,T:32:9:0:0:1,31:9,1002:0.21,114.56:0.00,18.97:0.21,95.59:0.00,1.00:0.00,1.00:0.00,1.00:24,42:191.0,41.7:0,0:0,0:58,78:74,73:0,18:XM_928585.3(POTEI) c.1552-93C>A,XM_928585.3(POTEI) c.1552-93C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131234275 . C . . NT END=131239575;NT GT ./. 2 131239647 . C . . NT END=131245604;NT GT ./. 2 131245713 rs2259528 C G 34 lc VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=557;Gene=POTEI/NM_001277406.1/1;CC=c.1301G>C;ProtCh=p.S434T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:31:3:0:0:20,11:607,371:0.00,33.61:0.00,-0.56:0.00,34.17:0.00,1.00:0.00,0.75:0.00,1.00:40,40:13.7,33.7:0,0:0,0:68,95:81,56:34,11:-,XM_928585.3(POTEI) c.1301G>C (p.Ser434Thr):-,NOT_FOUND:-,NOT_FOUND 2 131245772 . C . . NT END=131246807;NT GT ./. 2 131246853 . C . . NT END=131248242;NT GT ./. 2 131248314 . C . . NT END=131254124;NT GT ./. 2 131253891 rs3877617 G T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=11;PC=0.001;Gene=POTEI/NM_001277406.1/1;CC=c.1126+234C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:228:26.14:26.14:0.00:1.00:1.00:0.00:40:32.6:0:0:31:119:21:XM_928585.3(POTEI) c.1126+234C>A,XM_928585.3(POTEI) c.1126+234C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131254196 . C . . NT END=131256656;NT GT ./. 2 131254514 rs62163631 G A 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=POTEI/NM_001277406.1/1;CC=c.1056-319C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:40:32.2:0:0:122:28:10:XM_928585.3(POTEI) c.1056-319C>T,XM_928585.3(POTEI) c.1056-319C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 2 131256795 . C . . NT END=131258108;NT GT ./. 2 131258216 . C . . NT END=131261018;NT GT ./. 2 131258275 rs551563263 G A 24 end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=7;Gene=POTEI/NM_001277406.1/1;CC=c.811-60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:204:23.74:0.00:23.74:1.00:0.00:1.00:33:29.1:0:0:148:3:1:XM_928585.3(POTEI) c.811-60C>T,XM_928585.3(POTEI) c.811-60C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131261193 . C . . NT END=131261352;NT GT ./. 2 131261468 . C . . NT END=131266287;NT GT ./. 2 131266178 rs142237586 C G 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=41;Gene=POTEI/NM_001277406.1/1;CC=c.521+110G>C;VC=Intron;DM=POTEI/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C,G:13:13:0:0:1,12:10,351:0.00,39.40:0.00,39.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:27,40:87.0,60.2:0,0:0,0:56,37:93,113:0,12:XM_928585.3(POTEI) c.521+110G>C,XM_928585.3(POTEI) c.521+110G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131266530 rs10737928 C A 2449 lc VT=SNV;PN=G;NN=G;SST=Single;DP=727;DB;DBA=NA;PAF=C/0.1412,A/0.8588,T/.;PC=0.484;Gene=POTEI/NM_001277406.1/1;CC=c.279G>T;ProtCh=p.T93=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:727:482:0:0:699,19,4,5:21471,145,46,56:2448.59,0.00,0.28,0.44:1276.07,0.00,0.20,0.34:1172.52,0.00,0.08,0.10:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,51,43:48.9,65.1,86.8,60.6:0,0,0,0:0,0,0,0:61,61,71,108:78,87,69,42:37,19,13,15:XM_928585.3(POTEI) c.279G>T (p.(=)),XM_928585.3(POTEI) c.279G>T (p.(=)):0.84,0.84:NOT_FOUND,NOT_FOUND 2 131266809 . C . . NT END=131279057;NT GT ./. 2 131279081 . G . . NT END=131279385;NT GT ./. 2 131279436 . G . . NT END=131279529;NT GT ./. 2 131279704 . G . . NT END=131280362;NT GT ./. 2 131280478 . G . . NT END=131280741;NT GT ./. 2 131280852 . G . . NT END=131285268;NT GT ./. 2 131285488 . T . . NT END=131350430;NT GT ./. 2 131350650 . C . . NT END=131355066;NT GT ./. 2 131355177 . C . . NT END=131355440;NT GT ./. 2 131355556 . C . . NT END=131356214;NT GT ./. 2 131356389 . C . . NT END=131356482;NT GT ./. 2 131356533 . C . . NT END=131356837;NT GT ./. 2 131356861 . T . . NT END=131369105;NT GT ./. 2 131368872 . T TG 21 idl,rn VT=INS;SST=Single;DP=44;PC=0.011;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG,D:43:44:13:12:19,12,12:577,253,36:0.00,21.29,-0.37:0.00,21.29,-0.37:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:55,43,3:69.1,110.3,57.2:0,1,0:0,0,0:44,29,17:93,110,131:26,12,12:-,XM_929706.4(POTEJ) c.1-u234_1-u233insG:-,NOT_FOUND:-,NOT_FOUND 2 131368902 . T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,G,T:40:40:0:0:1,11,28:10,129,564:-0.09,8.08,0.00:-0.09,8.08,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:27,55,52:133.0,111.0,69.2:0,0,0:0,0,0:32,88,50:118,63,99:0,31,13:XM_929706.4(POTEJ) c.1-u204T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 131368906 . C G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G,T:43:43:0:0:34,8,1:794,125,12:0.00,7.57,-0.04:0.00,7.57,-0.04:0.00,0.00,0.00:0.00,0.97,0.00:0.00,0.97,0.00:0.00,0.00,0.00:52,55,21:58.6,152.1,112.0:0,0,0:0,0,0:52,65,55:94,85,61:20,20,0:-,XM_929706.4(POTEJ) c.1-u200C>G:-,NOT_FOUND:-,NOT_FOUND 2 131368923 . T G 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:46:46:0:0:1,1,20,24:10,10,244,513:-0.03,-0.03,20.41,0.00:-0.03,-0.03,20.41,0.00:0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00:3,3,55,51:85.0,140.0,119.7,34.0:0,0,0,0:0,0,0,0:102,52,75,69:49,98,73,82:0,0,16,34:XM_929706.4(POTEJ) c.1-u183T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 131368927 . T G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:46:46:0:0:1,19,26:13,271,481:0.10,22.68,0.00:0.10,22.68,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:21,55,52:112.0,103.8,51.9:0,0,0:0,0,0:76,91,73:40,60,78:0,23,26:XM_929706.4(POTEJ) c.1-u179T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 131368944 . T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=49;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G,T:49:49:0:0:1,16,32:10,186,497:-0.09,12.93,0.00:-0.09,12.93,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:15,51,55:160.0,111.8,46.4:0,0,0:0,0,0:25,100,90:126,51,61:0,20,31:XM_929706.4(POTEJ) c.1-u162T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 131368949 . T G 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:47:47:0:0:1,19,27:12,301,435:0.04,25.51,0.00:0.04,25.51,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:21,55,52:112.0,111.8,41.2:0,0,0:0,0,0:98,103,87:18,48,62:0,17,41:XM_929706.4(POTEJ) c.1-u157T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 131369516 . G . . NT END=131374362;NT GT ./. 2 131374478 . G . . NT END=131374637;NT GT ./. 2 131374812 . G . . NT END=131377617;NT GT ./. 2 131377452 rs62164891 G A 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=104;PC=0.019;Gene=POTEJ/NM_001277083.1/1;CC=c.700-166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:75:75:0:0:8,67:242,2058:17.04,0.00:17.04,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:25,52:34.2,4.5:0,0:0,0:20,51:131,100:6,23:XM_929706.4(POTEJ) c.700-166G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 131377707 rs201225245 A G 306 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.2704,G/0.7296;NP=1235;Gene=POTEJ/NM_001277083.1/1;CC=c.789A>G;ProtCh=p.A263=;VC=Silent;DM=POTEJ/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:A,G:84:3:0:0:2,82:45,2709:0.00,306.10:0.00,-0.96:0.00,307.05:0.00,1.00:0.00,1.00:0.00,1.00:31,40:71.0,40.0:0,0:0,0:94,103:25,46:2,28:XM_929706.4(POTEJ) c.789A>G (p.(=)),XM_929706.4(POTEJ) c.789A>G (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131377725 . G . . NT END=131379038;NT GT ./. 2 131379177 . G . . NT END=131381636;NT GT ./. 2 131381708 . G . . NT END=131387521;NT GT ./. 2 131387593 . G . . NT END=131388981;NT GT ./. 2 131388708 rs111524539 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=135;PC=0.785;Gene=POTEJ/NM_001277083.1/1;CC=c.1087-274C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,T:17:17:0:0:12,5:406,156:0.00,13.51:0.00,13.51:0.00,0.00:0.00,0.88:0.00,0.88:0.00,0.00:55,25:4.3,59.0:0,0:0,0:46,24:104,126:30,17:-,XM_929706.4(POTEJ) c.1087-274C>T:-,NOT_FOUND:-,NOT_FOUND 2 131388749 rs200354997 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6456,G/0.3544;NP=123;PC=0.006;Gene=POTEJ/NM_001277083.1/1;CC=c.1087-233A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G:18:18:0:0:12,6:379,171:0.00,14.99:0.00,14.99:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:39,25:4.3,56.3:0,0:0,0:65,56:85,94:25,12:-,XM_929706.4(POTEJ) c.1087-233A>G:-,NOT_FOUND:-,NOT_FOUND 2 131388819 rs200016517 ATTAT A 7 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.003;Gene=POTEJ/NM_001277083.1/1;CC=c.1087-155_1087-152delTTTA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:ATTAT,A:20:20:0:4:16,4:469,93:0.00,6.87:0.00,6.87:0.00,0.00:0.00,0.71:0.00,0.71:0.00,0.00:27,24:23.8,56.5:0,0:0,0:97,117:54,33:38,4:-,XM_929706.4(POTEJ) c.1087-162_1087-159delTTAT:-,0.05:-,NOT_FOUND 2 131388915 . C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;NP=3;Gene=POTEJ/NM_001277083.1/1;CC=c.1087-67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:28:17:0:0:24,4:679,118:0.00,8.73:0.00,-1.13:0.00,9.87:0.00,0.66:0.00,0.86:0.00,0.75:40,25:13.7,46.5:0,0:0,0:48,39:100,111:23,15:-,XM_929706.4(POTEJ) c.1087-67C>T:-,NOT_FOUND:-,NOT_FOUND 2 131389027 . G . . NT END=131390062;NT GT ./. 2 131390230 . G . . NT END=131396191;NT GT ./. 2 131396263 . G . . NT END=131401555;NT GT ./. 2 131396315 . A G 60 nt VT=SNV;PN=G;NN=C;SST=Single;DP=82;NP=9;PC=0.002;Gene=POTEJ/NM_001277083.1/1;CC=c.1369+53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:82:45:0:0:60,22:1760,703:0.00,60.10:0.00,21.52:0.00,38.59:0.00,1.00:0.00,1.00:0.00,1.00:40,40:5.3,37.6:0,0:0,0:68,60:80,91:34,20:-,XM_929706.4(POTEJ) c.1369+53A>G:-,NOT_FOUND:-,NOT_FOUND 2 131396497 rs62164942 G T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=75;PC=0.003;Gene=POTEJ/NM_001277083.1/1;CC=c.1369+235G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:G,T:16:0:0:0:13,3:443,97:0.00,7.78:0.00,0.00:0.00,7.78:0.00,0.54:0.00,0.00:0.00,0.54:40,27:1.7,62.7:0,0:0,0:104,117:47,34:30,8:-,XM_929706.4(POTEJ) c.1369+235G>T:-,NOT_FOUND:-,NOT_FOUND 2 131401627 . G . . NT END=131403309;NT GT ./. 2 131403355 . G . . NT END=131403701;NT GT ./. 2 131403884 . G . . NT END=131412493;NT GT ./. 2 131407692 rs62165268 T C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=348;Gene=POTEJ/NM_001277083.1/1;CC=c.1667+3809T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:15:0:0:10,8:307,264:30.07,0.00:21.49,0.00:8.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,57:33.5,1.8:0,0:0,0:33,67:118,83:25,14:XM_929706.4(POTEJ) c.1667+3809T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 131407943 rs62165269 T G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=91;PC=0.004;Gene=POTEJ/NM_001277083.1/1;CC=c.1667+4060T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:G,T:11:0:0:0:5,6:125,197:11.57,0.00:0.00,0.00:11.57,0.00:0.93,0.00:0.00,0.00:0.93,0.00:40,40:27.0,11.2:0,0:0,0:76,97:75,53:60,21:XM_929706.4(POTEJ) c.1667+4060T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 131412615 . G . . NT END=131414121;NT GT ./. 2 131414061 rs62165274 A G 196 nt VT=SNV;PN=A;NN=A;SST=Single;DP=192;DB;DBA=NA;PAF=NA;NP=874;Gene=POTEJ/NM_001277083.1/1;CC=c.1789-61A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:192:177:0:0:125,67:3952,2176:0.00,195.65:0.00,182.05:0.00,13.61:0.00,1.00:0.00,1.00:0.00,1.00:60,42:7.0,85.9:0,0:0,0:50,33:98,113:35,26:-,XM_929706.4(POTEJ) c.1789-61A>G:-,NOT_FOUND:-,NOT_FOUND 2 131414073 rs62165275 T A 226 nt VT=SNV;PN=G;NN=T;SST=Single;DP=216;DB;DBA=NA;PAF=NA;NP=1202;Gene=POTEJ/NM_001277083.1/1;CC=c.1789-49T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:216:199:0:0:80,136:2501,4119:226.47,0.00:203.09,0.00:23.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:83.4,6.0:0,0:0,0:34,41:114,106:24,28:XM_929706.4(POTEJ) c.1789-49T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 131414176 rs62165276 C T 608 lc VT=SNV;PN=G;NN=G;SST=Single;DP=459;DB;DBA=NA;PAF=NA;NP=3406;Gene=POTEJ/NM_001277083.1/1;CC=c.1843C>T;ProtCh=p.R615W;VC=Missense;DM=POTEJ/CCDC144C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:459:368:0:0:2,251,1,205:25,7876,12,6461:-0.28,0.00,-0.18,607.77:-0.20,0.00,-0.11,395.26:-0.08,0.00,-0.07,212.51:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:43,60,56,53:64.0,8.2,141.0,44.9:0,0,0,0:0,0,0,0:48,71,46,60:101,78,66,90:28,36,0,31:-,XM_929706.4(POTEJ) c.1843C>T (p.Arg615Trp):-,NOT_FOUND:-,NOT_FOUND 2 131414394 rs200109207 C T 269 lc VT=SNV;PN=A;NN=G;SST=Single;DP=573;DB;DBA=NA;PAF=NA;NP=642;PC=0.959;Gene=POTEJ/NM_001277083.1/1;CC=c.2061C>T;ProtCh=p.D687=;VC=Silent;DM=POTEJ/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:573:346:0:0:468,1,104:14733,10,3371:0.00,-0.38,269.11:0.00,-0.20,16.04:0.00,-0.19,253.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:43,43,40:7.9,30.0,49.7:1,0,0:0,0,0:73,73,116:74,55,34:39,0,21:-,XM_929706.4(POTEJ) c.2061C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 131414431 rs201034632 T C 98 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=528;DB;DBA=NA;PAF=NA;PC=0.994;Gene=POTEJ/NM_001277083.1/1;CC=c.2098T>C;ProtCh=p.C700R;VC=Missense;DM=POTEJ/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:528:311:0:0:1,54,2,471:9,1472,18,14509:-0.39,98.46,-0.75,0.00:-0.18,-8.80,-0.33,0.00:-0.21,107.26,-0.42,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:24,40,40,44:30.0,61.7,72.0,7.0:0,0,0,0:0,0,0,0:120,109,88,65:30,41,62,84:0,24,11,30:XM_929706.4(POTEJ) c.2098T>C (p.Cys700Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 131414975 rs535076780 A T 170 lc VT=SNV;PN=T;NN=T;SST=Single;DP=480;DB;DBA=NA;PAF=NA;NP=4;PC=1.000;Gene=POTEJ/NM_001277083.1/1;CC=c.2642A>T;ProtCh=p.Y881F;VC=Missense;DM=POTEJ/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:480:337:0:0:411,1,1,67:12949,12,10,2216:0.00,-0.32,-0.33,169.52:0.00,-0.17,-0.20,44.12:0.00,-0.15,-0.13,125.40:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,6,24,40:9.4,51.0,59.0,67.3:0,0,0,0:0,0,0,0:60,98,79,94:88,18,72,55:29,0,0,15:-,XM_929706.4(POTEJ) c.2642A>T (p.Tyr881Phe):-,NOT_FOUND:-,NOT_FOUND 2 131415008 rs62165279 T C 144 lc VT=SNV;PN=A;NN=G;SST=Single;DP=531;DB;DBA=NA;PAF=T/0.9451,C/0.05491;NP=3;PC=1.000;Gene=POTEJ/NM_001277083.1/1;CC=c.2675T>C;ProtCh=p.M892T;VC=Missense;DM=POTEJ/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:531:343:0:0:67,1,463:1988,12,14637:143.74,-0.37,0.00:14.38,-0.18,0.00:129.35,-0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,24,60:69.2,12.0,9.7:0,0,1:0,0,0:118,119,75:33,32,75:17,0,32:XM_929706.4(POTEJ) c.2675T>C (p.Met892Thr),-:NOT_FOUND,-:NOT_FOUND,- 2 131415337 rs534828213 G A 27 lc VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.9862,A/0.01378;NP=4;PC=1.000;Gene=POTEJ/NM_001277083.1/1;CC=c.3004G>A;ProtCh=p.V1002M;VC=Missense;DM=POTEJ/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:13:0:0:11,62:355,1914:27.35,0.00:14.34,0.00:13.01,0.00:0.99,0.00:0.81,0.00:1.00,0.00:25,40:39.1,12.0:0,0:0,0:81,91:70,59:34,31:XM_929706.4(POTEJ) c.3004G>A (p.Val1002Met),-:NOT_FOUND,-:NOT_FOUND,- 2 131415451 . G . . NT END=131486724;NT GT ./. 2 131487673 rs272128 A C 469 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=A/0.04513,C/0.9549;PC=0.890;Gene=GPR148/NM_207364.2/1;CC=c.949A>C;ProtCh=p.T317P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:129:72:0:0:1,128:12,4103:0.00,469.32:0.00,186.54:0.00,282.78:0.00,1.00:0.00,1.00:0.00,1.00:42,60:186.0,39.3:0,0:0,0:130,77:-6,71:0,38:NM_207364.2(GPR148) c.949A>C (p.Thr317Pro),NM_207364.2(GPR148) c.949A>C (p.Thr317Pro):0.95,0.95:0.938951,0.938951 2 131487769 . A . . NT END=131519645;NT GT ./. 2 131507954 . CTGTG C 9 rn VT=DEL;SST=Single;DP=6;NP=4;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:CTGTG,C:5:5:0:4:2,3:61,119:0.00,9.13:0.00,4.11:0.00,5.01:0.00,0.73:0.00,0.96:0.00,0.79:60,60:13.0,52.7:0,1:0,0:132,64:19,86:16,21:-,NM_152698.2(FAM123C) c.-190-u5122_-190-u5119delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 131520663 rs1905235 T C 545 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.006589,C/0.9934;Gene=AMER3/NM_152698.2/0;CC=c.1018T>C;ProtCh=p.S340P;VC=Missense;Gene=AMER3/NM_001105193.1/0;CC=c.1018T>C;ProtCh=p.S340P;VC=Missense;Gene=AMER3/NM_001105194.1/0;CC=c.1018T>C;ProtCh=p.S340P;VC=Missense;Gene=AMER3/NM_001105195.1/1;CC=c.1018T>C;ProtCh=p.S340P;VC=Missense;DM=AMER3/WTX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:149:95:0:0:149:4739:544.72:266.22:278.50:1.00:1.00:1.00:60:40.2:0:0:77:70:41:NM_152698.2(FAM123C) c.1018T>C (p.Ser340Pro),NM_152698.2(FAM123C) c.1018T>C (p.Ser340Pro):0.99,0.99:0.977011,0.977011 2 131522232 . G . . NT END=131594526;NT GT ./. 2 131582311 rs71398507 T TCACA 11 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=2;NP=37;NP=4;PC=0.001;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:T,TCACA:8:7:5:0:4,4:105,149:0.00,10.98:0.00,3.25:0.00,7.74:0.00,0.85:0.00,0.97:0.00,0.96:60,60:32.8,56.0:1,1:0,0:71,48:36,81:6,14:-,chr2 g.131582311_131582312insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 131582346 rs10553912 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4928,C/0.5072;NP=3;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:8:5:0:2:4,4:142,98:13.71,0.00:7.15,0.00:6.55,0.00:0.87,0.00:0.96,0.00:0.99,0.00:60,60:72.0,24.2:0,0:0,0:82,89:52,59:6,17:chr2 g.131582345T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 131582347 rs12995341 G A 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4958,A/0.5042;NP=2;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,G:8:5:0:2:4,4:139,114:13.41,0.00:7.01,0.00:6.40,0.00:0.87,0.00:0.96,0.00:0.99,0.00:60,60:86.0,24.2:0,0:0,0:90,90:50,58:10,17:chr2 g.131582346G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 131594274 rs72868935 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8049,C/0.1951;NP=164 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:227:26.04:26.04:0.00:1.00:1.00:0.00:60:109.9:0:0:38:113:12:chr2 g.131594273T>C (intergenic),chr2 g.131594273T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131594566 . G . . NT END=131671558;NT GT ./. 2 131594601 rs3102150 C G 191 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.6398,G/0.3602;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G:50:26:0:0:50:1674:191.23:59.24:131.98:1.00:1.00:1.00:60:44.4:0:0:87:49:36:chr2 g.131594600C>G (intergenic),chr2 g.131594600C>G (intergenic):0.33,0.33:NOT_FOUND,NOT_FOUND 2 131671649 rs149365221 T G 200 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=2;PC=0.312 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:159:118:0:0:67,92:2150,2945:199.96,0.00:113.51,0.00:86.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,6.7:0,0:0,0:67,61:79,81:37,26:NM_015320.2(ARHGEF4) c.-520-u2575T>G,-:0.0018,-:NOT_FOUND,- 2 131672101 rs6752575 T C 268 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=178;DB;DBA=NA;PAF=T/0.2845,C/0.7155 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:178:116:0:0:93,85:2773,2823:267.86,0.00:115.62,0.00:152.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,6.5:0,0:0,0:96,81:54,67:34,32:NM_015320.2(ARHGEF4) c.-520-u2123T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 131672271 rs6752724 T C 563 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=NA;NP=135 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:161:99:0:0:1,159,1:11,4892,11:0.08,562.67,0.00:-0.00,277.33,0.00:0.08,285.34,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:192.0,37.7,46.0:0,0,0:0,0,0:51,83,72:100,63,79:0,32,0:NM_015320.2(ARHGEF4) c.-520-u1953T>C,NM_015320.2(ARHGEF4) c.-520-u1953T>C:1,1:NOT_FOUND,NOT_FOUND 2 131672950 rs12464119 A G 301 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=183;DB;DBA=NA;PAF=A/0.4215,G/0.5785;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:183:133:0:0:87,94,2:2616,3106,26:0.00,301.03,-0.00:0.00,185.68,-0.24:0.00,115.35,0.24:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.4,43.1,13.0:0,0,0:0,0,0:75,65,92:71,81,57:31,37,8:-,NM_015320.2(ARHGEF4) c.-520-u1274A>G:-,0.62:-,NOT_FOUND 2 131673249 rs35337771 A T 325 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=244;DB;DBA=NA;PAF=A/0.9784,T/0.02157 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:244:158:0:0:127,1,3,113:3895,8,33,3436:0.00,-0.20,-0.22,325.22:0.00,-0.09,0.10,189.77:0.00,-0.11,-0.32,135.44:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:22.7,43.0,122.7,41.4:0,0,0,0:0,0,0,0:85,148,70,60:66,3,71,91:35,0,39,38:-,NM_015320.2(ARHGEF4) c.-520-u975A>T:-,0.03:-,NOT_FOUND 2 131673316 rs3739129 C T 403 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=270;DB;DBA=NA;PAF=C/0.3858,T/0.6142 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:270:193:0:0:141,129:4286,4228:0.00,403.21:0.00,222.22:0.00,180.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.1,40.8:0,0:0,0:73,64:76,78:36,29:-,NM_015320.2(ARHGEF4) c.-520-u908C>T:-,0.64:-,NOT_FOUND 2 131673702 rs62178867 G A 259 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=G/0.8203,A/0.1797 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:167:105:0:0:87,79,1:2678,2624,11:259.36,0.00,-0.13:120.78,0.00,-0.11:138.57,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.2,7.8,119.0:0,0,0:0,0,0:76,76,110:70,70,21:41,35,0:NM_015320.2(ARHGEF4) c.-520-u522G>A,-:0.16,-:NOT_FOUND,- 2 131674285 rs3739127 A G 228 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.4655,G/0.5345;PC=0.016;Gene=ARHGEF4/NM_015320.3/1;CC=c.-458A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:136:83:0:0:62,1,73:1972,12,2339:0.00,-0.07,228.21:0.00,-0.09,115.34:0.00,0.02,112.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.7,69.0,39.9:0,0,0:0,0,0:81,37,61:70,114,89:42,0,32:-,NM_015320.2(ARHGEF4) c.-458A>G:-,0.58:-,NOT_FOUND 2 131675072 . G . . NT END=131688524;NT GT ./. 2 131688831 . G . . NT END=131704081;NT GT ./. 2 131704209 . G . . NT END=131721752;NT GT ./. 2 131721518 rs111326420 G C 39 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.02017,C/0.9798;Gene=ARHGEF4/NM_015320.3/1;CC=c.427+17310G>C;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.427+17310G>C;VC=Intron;DM=ARHGEF4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A,C:12:12:0:0:1,11:13,343:0.75,39.12:0.75,37.26:0.00,1.87:0.00,1.00:0.00,1.00:0.00,0.94:60,60:93.0,83.8:0,0:0,0:56,18:78,133:0,10:NM_015320.2(ARHGEF4) c.427+17310G>C,NM_015320.2(ARHGEF4) c.427+17310G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 131721823 . G . . NT END=131769261;NT GT ./. 2 131769237 rs13023338 G A 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4083,A/0.5917;Gene=ARHGEF4/NM_015320.3/1;CC=c.428-16281G>A;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.428-16281G>A;VC=Intron;DM=ARHGEF4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:18:0:0:13,15:456,495:43.40,0.00:18.85,0.00:24.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,0.0:0,0:0,0:71,81:79,69:38,26:NM_015320.2(ARHGEF4) c.428-16281G>A,-:0.65,-:NOT_FOUND,- 2 131769268 . a . . NT END=131785517;NT GT ./. 2 131785658 . G . . NT END=131792555;NT GT ./. 2 131792862 . G . . NT END=131793276;NT GT ./. 2 131793410 . G . . NT END=131796425;NT GT ./. 2 131796256 rs73960400 T C 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7656,C/0.2344;Gene=ARHGEF4/NM_015320.3/1;CC=c.568-170T>C;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.568-170T>C;VC=Intron;DM=ARHGEF4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:36:0:0:12,24:381,739:33.88,0.00:33.88,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.8,11.1:0,0:0,0:48,46:101,104:32,22:NM_015320.2(ARHGEF4) c.568-170T>C,-:0.19,-:NOT_FOUND,- 2 131796606 . G . . NT END=131796944;NT GT ./. 2 131797308 rs73960401 C G 297 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=217;DB;DBA=NA;PAF=C/0.7594,G/0.2406;Gene=ARHGEF4/NM_015320.3/1;CC=c.748-281C>G;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.748-281C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:217:144:0:0:120,97:4053,3158:0.00,297.27:0.00,118.30:0.00,178.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,68.6:0,0:0,0:84,72:64,78:30,37:-,NM_015320.2(ARHGEF4) c.748-281C>G:-,0.2:-,NOT_FOUND 2 131797367 rs2278115 A G 344 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=227;DB;DBA=NA;PAF=A/0.7837,G/0.2163;Gene=ARHGEF4/NM_015320.3/1;CC=c.748-222A>G;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.748-222A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:227:158:0:0:117,110:3663,3600:0.00,344.12:0.00,186.84:0.00,157.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,84.1:0,0:0,0:63,62:86,83:42,36:-,NM_015320.2(ARHGEF4) c.748-222A>G:-,0.18:-,NOT_FOUND 2 131797444 rs73960402 G C 384 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=262;DB;DBA=NA;PAF=G/0.8209,C/0.1791;Gene=ARHGEF4/NM_015320.3/1;CC=c.748-145G>C;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.748-145G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:262:189:0:0:129,133:4010,4286:383.56,0.00:239.72,0.00:143.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.3,9.8:0,0:0,0:77,75:66,74:38,34:NM_015320.2(ARHGEF4) c.748-145G>C,-:0.14,-:NOT_FOUND,- 2 131797484 rs2278116 A G 395 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=253;DB;DBA=NA;PAF=A/0.7654,G/0.2346;Gene=ARHGEF4/NM_015320.3/1;CC=c.748-105A>G;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.748-105A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:253:186:0:0:128,1,123,1:3702,12,4116,12:0.00,-0.15,394.84,-0.15:0.00,-0.05,224.04,-0.05:0.00,-0.10,170.81,-0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:8.6,42.0,71.6,131.0:0,0,0,0:0,0,0,0:80,100,74,76:69,51,77,75:35,0,35,0:-,NM_015320.2(ARHGEF4) c.748-105A>G:-,0.19:-,NOT_FOUND 2 131797579 . T . . NT END=131797588;NT GT ./. 2 131797766 . G . . NT END=131797833;NT GT ./. 2 131798014 . G . . NT END=131798802;NT GT ./. 2 131798737 rs2241460 C G 73 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7686,G/0.2314;Gene=ARHGEF4/NM_015320.3/1;CC=c.1105-66C>G;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.1105-66C>G;VC=Intron;DM=ARHGEF4/RhoGEF;DM=ARHGEF4/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:40:0:0:18,23:582,743:0.00,73.05:0.00,62.89:0.00,10.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.4,37.5:0,0:0,0:47,32:103,119:30,19:-,NM_015320.2(ARHGEF4) c.1105-66C>G:-,0.19:-,NOT_FOUND 2 131799036 . G . . NT END=131799387;NT GT ./. 2 131799518 . G . . NT END=131801024;NT GT ./. 2 131799563 rs2241461 C T 122 nt VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.7686,T/0.2314;Gene=ARHGEF4/NM_015320.3/1;CC=c.1467+46C>T;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.1467+46C>T;VC=Intron;DM=ARHGEF4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:99:36:0:0:58,41:1788,1313:0.00,121.63:0.00,38.24:0.00,83.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,38.4:0,0:0,0:86,95:62,56:24,19:-,NM_015320.2(ARHGEF4) c.1467+46C>T:-,0.19:-,0.190568 2 131800943 rs2288189 G C 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.759,A/.,C/0.241;Gene=ARHGEF4/NM_015320.3/1;CC=c.1468-82G>C;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.1468-82G>C;VC=Intron;DM=ARHGEF4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:36:33:0:0:15,21:475,597:44.08,0.00:33.36,0.00:10.72,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.6,22.1:0,0:0,0:54,55:97,96:32,22:NM_015320.2(ARHGEF4) c.1468-82G>C,-:0.2,-:NOT_FOUND,- 2 131801157 . G . . NT END=131801871;NT GT ./. 2 131801286 rs367899888 GGGCTGGGATGGGGTGGCTCTCTGCAGGT G 27 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=GGGCTGGGATGGGGTGGCTCTCTGCAGGT/0.8135,G/0.1865;DB;DBA=NA;PAF=GGGCTGGGATGGGGTGGCTCTCTGCAGGT/0.8135,G/0.1865;NP=27;Gene=ARHGEF4/NM_015320.3/1;CC=c.1599+132_1599+159delGCTGGGATGGGGTGGCTCTCTGCAGGTG;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.1599+132_1599+159delGCTGGGATGGGGTGGCTCTCTGCAGGTG;VC=Intron;DM=ARHGEF4/PH;DM=ARHGEF4/PH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGCTGGGATGGGGTGGCTCTCTGCAGGT,G:25:1:0:9:16,9:473,298:0.00,27.01:0.00,-0.10:0.00,27.10:0.00,1.00:0.00,0.57:0.00,1.00:60,60:6.3,8.3:0,0:0,0:113,87:28,64:27,15:-,NM_015320.2(ARHGEF4) c.1599+131_1599+158delGGCTGGGATGGGGTGGCTCTCTGCAGGT:-,NOT_FOUND:-,NOT_FOUND 2 131801416 rs74464080 A G 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.995,G/0.004992;NP=3;Gene=ARHGEF4/NM_015320.3/1;CC=c.1599+260A>G;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.1599+260A>G;VC=Intron;DM=ARHGEF4/PH;DM=ARHGEF4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:10:0:0:0:6,4:184,135:0.00,12.49:0.00,0.00:0.00,12.49:0.00,0.84:0.00,0.00:0.00,0.84:60,60:0.0,42.0:0,0:0,0:120,118:30,33:27,29:-,NM_015320.2(ARHGEF4) c.1599+260A>G:-,0.01:-,NOT_FOUND 2 131802045 rs10928515 C T 281 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=194;DB;DBA=NA;PAF=C/0.8157,A/.,G/.,T/0.1843;Gene=ARHGEF4/NM_015320.3/1;CC=c.1773C>T;ProtCh=p.P591=;VC=Silent;Gene=ARHGEF4/NM_032995.2/0;CC=c.1773C>T;ProtCh=p.P591=;VC=Silent;DM=ARHGEF4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:194:127:0:0:103,91:3200,2964:0.00,281.49:0.00,135.02:0.00,146.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,38.9:0,0:0,0:78,80:73,69:34,37:-,NM_015320.2(ARHGEF4) c.1773C>T (p.(=)):-,0.15:-,0.155167 2 131802116 . G . . NT END=131802941;NT GT ./. 2 131802332 rs10928516 G A 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.8137,A/0.1863;Gene=ARHGEF4/NM_015320.3/1;CC=c.1843+217G>A;VC=Intron;Gene=ARHGEF4/NM_032995.2/0;CC=c.1843+217G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:0:0:0:15,11:405,361:39.88,0.00:0.00,0.00:39.88,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.7,2.5:0,0:0,0:116,109:35,42:31,29:NM_015320.2(ARHGEF4) c.1843+217G>A,-:0.15,-:NOT_FOUND,- 2 131803763 . A . . NT END=131805778;NT GT ./. 2 131805984 rs11541220 G T 275 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=170;DB;DBA=NA;PAF=G/0.8281,C/.,T/0.1719;Gene=FAM168B/NM_001009993.2/1;CC=c.*4054C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:170:98:0:0:1,75,94:10,2318,2809:-0.13,0.00,275.06:-0.01,0.00,115.50:-0.12,0.00,159.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:29.0,12.5,37.7:0,3,0:0,0,0:23,86,69:126,65,76:0,31,35:-,NM_001009993.2(FAM168B) c.*4054C>A:-,0.14:-,NOT_FOUND 2 131809056 rs573312042 GA G 60 idl,rn VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=GA/0.7005,G/0.2995;DB;DBA=NA;PAF=GA/0.7005,G/0.2995;NP=50;PC=0.002;Gene=FAM168B/NM_001009993.2/1;CC=c.*981delT;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,T,I,G:71:49:3:34:44,1,3,23:1248,12,88,1002:0.00,-0.05,5.24,60.35:0.00,0.07,2.00,28.51:0.00,-0.12,3.24,31.85:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:27.5,21.0,11.3,35.3:0,0,0,10:0,0,0,0:90,137,94,70:57,13,55,70:37,0,32,36:-,NM_001009993.2(FAM168B) c.*967T[14]:-,NOT_FOUND:-,NOT_FOUND 2 131809197 rs7598890 C T 111 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.757,T/0.243;PC=0.043;Gene=FAM168B/NM_001009993.2/1;CC=c.*841G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:89:61:0:1:51,38:1630,1197:0.00,111.48:0.00,66.39:0.00,45.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,38.9:0,0:0,0:80,60:68,90:39,27:-,NM_001009993.2(FAM168B) c.*841G>A:-,0.2:-,NOT_FOUND 2 131809436 rs3814393 A T 190 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=A/0.9253,T/0.07468;Gene=FAM168B/NM_001009993.2/1;CC=c.*602T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:148:85:0:0:82,1,1,64:2447,10,11,2028:0.00,-0.18,-0.16,189.92:0.00,-0.11,-0.11,87.90:0.00,-0.06,-0.04,102.02:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:4.8,189.0,11.0,37.5:0,0,0,0:0,0,0,0:88,77,23,85:62,67,128,66:32,0,0,31:-,NM_001009993.2(FAM168B) c.*602T>A:-,0.06:-,NOT_FOUND 2 131810026 . C . . NT END=131810463;NT GT ./. 2 131810267 rs3814392 T G 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8273,G/0.1727;Gene=FAM168B/NM_001009993.2/1;CC=c.*12+197A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:18:0:0:8,18:228,547:19.64,0.00:14.16,0.00:5.47,0.00:0.98,0.00:0.99,0.00:0.92,0.00:60,60:41.0,27.3:0,0:0,0:77,68:74,82:54,45:NM_001009993.2(FAM168B) c.*12+197A>C,-:0.14,-:NOT_FOUND,- 2 131810589 . C . . NT END=131812844;NT GT ./. 2 131812738 rs3814391 C T 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8129,T/0.1871;Gene=FAM168B/NM_001009993.2/1;CC=c.475+107G>A;VC=Intron;DM=FAM168B/TCRP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:12,16:412,519:0.00,51.22:0.00,49.40:0.00,1.82:0.00,1.00:0.00,1.00:0.00,0.71:60,60:5.5,42.1:0,0:0,0:52,53:98,97:13,14:-,NM_001009993.2(FAM168B) c.475+107G>A:-,0.15:-,NOT_FOUND 2 131813023 . C . . NT END=131813125;NT GT ./. 2 131813269 . C . . NT END=131829427;NT GT ./. 2 131813442 rs10167343 A G 85 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.007388,C/.,G/0.9926;NP=862;Gene=FAM168B/NM_001009993.2/1;CC=c.155-174T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:0:0:0:22:745:84.99:0.00:84.99:1.00:0.00:1.00:60:44.6:0:0:105:46:31:NM_001009993.2(FAM168B) c.155-174T>C,NM_001009993.2(FAM168B) c.155-174T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 131829512 . C . . NT END=131840149;NT GT ./. 2 131829560 rs34094232 A ACACC 39 nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=15;PC=0.002;Gene=FAM168B/NM_001009993.2/1;CC=c.71-50_71-49insGGTG;VC=Intron;DM=FAM168B/TCRP1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACACC:33:15:13:0:20,13:627,427:0.00,39.30:0.00,10.40:0.00,28.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,1.5:0,0:0,0:88,91:63,59:23,17:-,NM_001009993.2(FAM168B) c.71-50_71-49insGGTG:-,NOT_FOUND:-,0.157191 2 131840220 . G . . NT END=131878514;NT GT ./. 2 131878552 . G . . NT END=131883325;NT GT ./. 2 131883287 rs368939952 T TA 26 idl,rn VT=INS;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=6;PC=0.003;Gene=PLEKHB2/NM_001100623.1/0;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001267062.1/1;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001267063.1/0;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001267064.1/0;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001267065.1/0;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001267066.1/0;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001267067.1/0;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001267068.1/0;CC=c.38-26_38-25insA;VC=Intron;Gene=PLEKHB2/NM_001309448.1/0;CC=c.-107-26_-107-25insA;VC=Intron;Gene=PLEKHB2/NM_001309450.1/0;CC=c.-66-26_-66-25insA;VC=Intron;Gene=PLEKHB2/NM_001309451.1/0;CC=c.-107-26_-107-25insA;VC=Intron;Gene=PLEKHB2/NM_001309452.1/0;CC=c.-107-26_-107-25insA;VC=Intron;Gene=PLEKHB2/NM_017958.2/0;CC=c.38-26_38-25insA;VC=Intron;DM=PLEKHB2/PH;DM=PLEKHB2/PH;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:T,TA,D:58:55:12:8:40,10,8:1343,381,251:0.00,25.73,19.43:0.00,19.60,17.70:0.00,6.13,1.73:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.89,0.00:60,60,60:15.8,15.9,13.8:0,2,0:0,0,0:50,35,42:94,109,108:31,23,13:-,NM_001267062.1(PLEKHB2) c.38-39_38-38insA:-,NOT_FOUND:-,NOT_FOUND 2 131883479 . G . . NT END=131884256;NT GT ./. 2 131884360 . G . . NT END=131888293;NT GT ./. 2 131888334 . G . . NT END=131890474;NT GT ./. 2 131888361 . AT A 13 rn VT=DEL;SST=Single;DP=39;NP=23;PC=0.001;Gene=PLEKHB2/NM_001100623.1/0;CC=c.333+42delT;VC=Intron;Gene=PLEKHB2/NM_001267062.1/1;CC=c.333+42delT;VC=Intron;Gene=PLEKHB2/NM_001267063.1/0;CC=c.333+42delT;VC=Intron;Gene=PLEKHB2/NM_001267064.1/0;CC=c.333+42delT;VC=Intron;Gene=PLEKHB2/NM_001267065.1/0;CC=c.333+42delT;VC=Intron;Gene=PLEKHB2/NM_001267066.1/0;CC=c.333+42delT;VC=Intron;Gene=PLEKHB2/NM_001267067.1/0;CC=c.293+4016delT;VC=Intron;Gene=PLEKHB2/NM_001267068.1/0;CC=c.293+4016delT;VC=Intron;Gene=PLEKHB2/NM_001309448.1/0;CC=c.189+42delT;VC=Intron;Gene=PLEKHB2/NM_001309450.1/0;CC=c.88-2100delT;VC=Intron;Gene=PLEKHB2/NM_001309451.1/0;CC=c.189+42delT;VC=Intron;Gene=PLEKHB2/NM_001309452.1/0;CC=c.189+42delT;VC=Intron;Gene=PLEKHB2/NM_017958.2/0;CC=c.333+42delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:AT,I,A:38:22:1:6:32,1,5:1002,33,196:0.00,1.83,12.72:0.00,-0.16,6.43:0.00,1.99,6.29:0.00,0.00,0.77:0.00,0.00,0.89:0.00,0.00,0.94:60,60,60:15.6,0.0,33.6:0,0,1:0,0,0:102,118,70:41,33,77:27,0,37:-,NM_001267062.1(PLEKHB2) c.333+29delT:-,NOT_FOUND:-,0.177875 2 131888424 rs3762570 C G 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7494,G/0.2506;Gene=PLEKHB2/NM_001100623.1/0;CC=c.333+91C>G;VC=Intron;Gene=PLEKHB2/NM_001267062.1/1;CC=c.333+91C>G;VC=Intron;Gene=PLEKHB2/NM_001267063.1/0;CC=c.333+91C>G;VC=Intron;Gene=PLEKHB2/NM_001267064.1/0;CC=c.333+91C>G;VC=Intron;Gene=PLEKHB2/NM_001267065.1/0;CC=c.333+91C>G;VC=Intron;Gene=PLEKHB2/NM_001267066.1/0;CC=c.333+91C>G;VC=Intron;Gene=PLEKHB2/NM_001267067.1/0;CC=c.293+4065C>G;VC=Intron;Gene=PLEKHB2/NM_001267068.1/0;CC=c.293+4065C>G;VC=Intron;Gene=PLEKHB2/NM_001309448.1/0;CC=c.189+91C>G;VC=Intron;Gene=PLEKHB2/NM_001309450.1/0;CC=c.88-2051C>G;VC=Intron;Gene=PLEKHB2/NM_001309451.1/0;CC=c.189+91C>G;VC=Intron;Gene=PLEKHB2/NM_001309452.1/0;CC=c.189+91C>G;VC=Intron;Gene=PLEKHB2/NM_017958.2/0;CC=c.333+91C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:6:0:0:13,11:386,389:0.00,36.98:0.00,2.78:0.00,34.20:0.00,1.00:0.00,0.97:0.00,1.00:70,60:9.0,38.9:0,0:0,0:70,90:81,61:38,34:-,NM_001267062.1(PLEKHB2) c.333+91C>G:-,0.21:-,NOT_FOUND 2 131890589 . G . . NT END=131897739;NT GT ./. 2 131897849 . G . . NT END=131901980;NT GT ./. 2 131902023 . g . . NT END=131904209;NT GT ./. 2 131904347 . G . . NT END=131975975;NT GT ./. 2 131935084 . T C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T:26:13:0:0:4,22:137,666:10.77,0.00:8.63,0.00:2.13,0.00:0.67,0.00:0.82,0.00:0.87,0.00:33,60:97.5,12.4:0,0:0,0:49,103:102,46:22,41:chr2 g.131935083T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 131935089 . C T 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;PC=0.900 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:24:14:0:0:20,4:575,134:0.00,10.62:0.00,8.35:0.00,2.28:0.00,0.68:0.00,0.87:0.00,0.85:60,33:10.2,97.5:0,0:0,0:93,54:57,97:45,22:-,chr2 g.131935088C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 131935207 rs4066631 G T 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.859 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:32:0:0:30,12:966,382:0.00,33.02:0.00,22.31:0.00,10.71:0.00,1.00:0.00,1.00:0.00,1.00:56,33:8.3,69.8:0,0:0,0:51,82:99,67:40,32:-,chr2 g.131935206G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 131935209 . T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:29:0:0:8,32:260,1091:21.13,0.00:12.21,0.00:8.92,0.00:0.97,0.00:0.99,0.00:0.98,0.00:27,60:73.8,11.5:0,0:0,0:72,80:79,69:26,35:chr2 g.131935208T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 131935368 . C T 9 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;PC=0.976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:32:15:0:0:28,4:845,128:0.00,9.48:0.00,0.80:0.00,8.68:0.00,0.63:0.00,0.78:0.00,0.90:60,40:3.2,39.2:0,0:0,0:90,139:60,10:34,3:-,chr2 g.131935367C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 131936169 rs4066639 C T 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=25;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,T:45:19:0:0:39,6:1134,201:0.00,15.30:0.00,1.87:0.00,13.43:0.00,0.86:0.00,0.87:0.00,0.96:42,24:6.7,33.5:0,0:0,0:96,40:55,110:25,14:-,chr2 g.131936168C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 131936464 rs6737170 C T 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.5877,T/0.4123;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:20:0:0:16,21:535,652:0.00,64.19:0.00,20.77:0.00,43.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,38.9:0,0:0,0:88,76:58,74:29,40:-,chr2 g.131936463C>T (intergenic):-,0.32:-,NOT_FOUND 2 131945811 rs58670323 C A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.722,A/0.278;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,C:6:6:0:0:3,3:103,98:9.93,0.00:9.93,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:57,60:37.3,3.0:0,0:0,0:29,84:121,66:24,28:chr2 g.131945810C>A (intergenic),-:0.24,-:NOT_FOUND,- 2 131947520 rs147259326 C G 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.9916,G/0.008387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:10:0:0:8,18:238,558:0.00,57.37:0.00,12.97:0.00,44.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.0,38.1:0,0:0,0:133,96:17,55:10,34:-,chr2 g.131947519C>G (intergenic):-,0.02:-,NOT_FOUND 2 131947586 rs13008712 C T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7075,T/0.2925 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:15:1:0:0:10,5:342,151:0.00,13.34:0.00,-0.18:0.00,13.51:0.00,0.89:0.00,0.56:0.00,0.99:60,60:27.6,30.2:0,0:0,0:99,55:52,95:30,42:-,chr2 g.131947585C>T (intergenic):-,0.24:-,NOT_FOUND 2 131948232 rs9710794 G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.721,A/0.279 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:10:6:0:0:3,7:87,213:7.48,0.00:4.69,0.00:2.79,0.00:0.62,0.00:0.86,0.00:0.76,0.00:60,60:70.3,13.9:0,0:0,0:63,82:88,69:29,16:chr2 g.131948231G>A (intergenic),-:0.24,-:NOT_FOUND,- 2 131948248 rs9711323 A T 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7216,T/0.2784 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,T:10:7:0:0:5,5:148,137:0.00,13.02:0.00,9.33:0.00,3.69:0.00,0.95:0.00,0.99:0.00,0.89:60,60:14.6,54.2:0,0:0,0:95,50:55,101:19,37:-,chr2 g.131948247A>T (intergenic):-,0.24:-,NOT_FOUND 2 131948847 rs3879461 C G 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7218,G/0.2782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G:8:6:0:0:4,4:89,111:0.00,10.62:0.00,11.20:0.00,-0.59:0.00,0.87:0.00,0.73:0.00,0.79:60,40:48.8,48.2:0,0:0,0:89,12:60,136:17,7:-,chr2 g.131948846C>G (intergenic):-,0.24:-,NOT_FOUND 2 131950965 rs12614565 G A 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.7204,A/0.2796 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G,T:12:8:0:0:5,6,1:167,208,11:15.78,0.00,0.35:9.25,0.00,0.43:6.53,0.00,-0.08:0.92,0.00,0.00:0.98,0.00,0.00:0.89,0.00,0.00:56,60,60:73.4,5.8,50.0:0,0,0:0,0,0:59,27,52:92,123,98:10,21,0:chr2 g.131950964G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 131950973 rs10803551 G A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6945,A/0.3055;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:A,G:12:8:0:0:5,7:166,221:15.45,0.00:9.02,0.00:6.43,0.00:0.92,0.00:0.98,0.00:0.89,0.00:56,60:73.4,12.1:0,0:0,0:67,48:84,103:10,29:chr2 g.131950972G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 131951231 rs9677819 T A 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.7204,A/0.2796;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:18:4:0:0:9,9:297,276:28.58,0.00:6.90,0.00:21.67,0.00:1.00,0.00:0.51,0.00:1.00,0.00:60,60:51.1,6.1:0,0:0,0:119,102:31,49:18,21:chr2 g.131951230T>A (intergenic),-:0.24,-:NOT_FOUND,- 2 131951299 rs9677376 C T 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8151,T/0.1849 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:7:0:0:0:3,4:83,133:0.00,13.13:0.00,0.00:0.00,13.13:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,64.2:0,0:0,0:146,105:5,45:3,29:-,chr2 g.131951298C>T (intergenic):-,0.16:-,NOT_FOUND 2 131951961 rs1834274 G A 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.7208,A/0.2792 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:9:0:0:16,15:521,513:50.40,0.00:9.38,0.00:41.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.3,12.0:0,0:0,0:69,103:77,47:17,22:chr2 g.131951960G>A (intergenic),-:0.24,-:NOT_FOUND,- 2 131952002 rs555990650 C CGT 7 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.9984,T/0.001597;NP=3;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CGT,D:28:7:3:3:22,3,3:619,97,95:0.00,7.15,6.96:0.00,-0.17,-0.17:0.00,7.33,7.13:0.00,0.44,0.00:0.00,0.51,0.00:0.00,0.44,0.00:60,60,60:16.8,26.7,31.3:0,0,0:0,0,0:107,106,50:39,43,101:25,5,30:-,chr2 g.131952002_131952003insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 131953329 rs1834273 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.72,T/0.28;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:7:5:0:0:4,3:100,101:0.00,9.46:0.00,8.19:0.00,1.27:0.00,0.69:0.00,0.93:0.00,0.83:60,60:53.2,68.0:0,0:0,0:135,31:15,120:7,4:-,chr2 g.131953328C>T (intergenic):-,0.24:-,NOT_FOUND 2 131953403 rs1834272 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.722,C/0.278;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:7:5:0:0:4,3:140,101:13.83,0.00:10.78,0.00:3.05,0.00:0.90,0.00:0.98,0.00:0.97,0.00:60,60:50.8,117.0:0,0:0,0:65,62:85,89:13,50:chr2 g.131953402T>C (intergenic),-:0.24,-:NOT_FOUND,- 2 131955247 rs7607465 G C 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7736,C/0.2264;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,G:4:2:0:0:3,1:78,33:8.19,0.00:7.70,0.00:0.48,0.00:0.85,0.00:0.95,0.00:0.95,0.00:60,55:26.0,0.0:0,0:0,0:29,105:122,46:24,0:chr2 g.131955246G>C (intergenic),-:0.19,-:NOT_FOUND,- 2 131976272 rs9973941 G C 1074 lc VT=SNV;PN=G;NN=A;SST=Single;DP=735;DB;DBA=NA;PAF=NA;PC=0.010;Gene=POTEE/NM_001083538.1/1;CC=c.297G>C;ProtCh=p.G99=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:735:451:0:0:5,352,372,6:50,11245,11055,64:-0.76,1074.26,0.00,-0.62:-0.33,532.11,0.00,-0.12:-0.43,542.15,0.00,-0.50:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,60,60,50:100.0,55.2,19.5,77.0:0,0,2,0:0,0,0,0:95,68,85,94:54,79,61,55:20,35,40,22:NM_001083538.1(POTEE) c.297G>C (p.(=)),-:0.45,-:NOT_FOUND,- 2 131976353 rs62177516 C T 165 lc VT=SNV;PN=G;NN=G;SST=Single;DP=846;DB;DBA=NA;PAF=NA;NP=258;Gene=POTEE/NM_001083538.1/1;CC=c.378C>T;ProtCh=p.S126=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:846:522:0:0:1,766,79:21,24289,2409:-0.19,0.00,164.94:-0.00,0.00,162.38:-0.19,0.00,2.56:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,60,55:130.0,19.1,45.8:0,0,0:0,0,0:17,74,50:133,73,100:0,36,28:-,NM_001083538.1(POTEE) c.378C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 131976497 . G . . NT END=131981168;NT GT ./. 2 131981284 . G . . NT END=131981442;NT GT ./. 2 131981617 . G . . NT END=131984395;NT GT ./. 2 131984229 . G A 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;NP=52;PC=0.009;Gene=POTEE/NM_001083538.1/1;CC=c.811-167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:45:0:0:9,36:297,1103:24.22,0.00:24.22,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:40,60:35.1,12.7:0,0:0,0:123,58:25,92:4,25:NM_001083538.1(POTEE) c.811-167G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 131984320 . C T 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=160;NP=467;Gene=POTEE/NM_001083538.1/1;CC=c.811-76C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:160:147:0:0:132,28:4265,881:0.00,69.26:0.00,51.56:0.00,17.70:0.00,1.00:0.00,1.00:0.00,0.99:60,49:8.7,35.5:0,0:0,0:29,10:120,141:20,8:-,NM_001083538.1(POTEE) c.811-76C>T:-,NOT_FOUND:-,NOT_FOUND 2 131984503 . G . . NT END=131985816;NT GT ./. 2 131984532 rs62177520 C G 131 nt VT=SNV;PN=T;NN=T;SST=Single;DP=200;DB;DBA=NA;PAF=NA;PC=0.146;Gene=POTEE/NM_001083538.1/1;CC=c.917+30C>G;VC=Intron;DM=POTEE/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:200:49:0:0:152,48:4984,1564:0.00,131.46:0.00,2.35:0.00,129.11:0.00,1.00:0.00,1.00:0.00,1.00:60,41:6.5,43.8:0,0:0,0:113,109:36,41:25,25:-,NM_001083538.1(POTEE) c.917+30C>G:-,NOT_FOUND:-,NOT_FOUND 2 131984646 rs201813715 C T 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=717;PC=0.003;Gene=POTEE/NM_001083538.1/1;CC=c.917+144C>T;VC=Intron;DM=POTEE/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:0:0:0:52,12:1670,348:0.00,27.15:0.00,0.00:0.00,27.15:0.00,1.00:0.00,0.00:0.00,1.00:43,40:11.3,44.9:0,0:0,0:110,93:40,56:22,24:-,NM_001083538.1(POTEE) c.917+144C>T:-,NOT_FOUND:-,NOT_FOUND 2 131985688 . A G 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=105;NP=7;PC=0.009;Gene=POTEE/NM_001083538.1/1;CC=c.918-129A>G;VC=Intron;DM=POTEE/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:105:105:0:0:66,38,1:2094,1197,11:0.00,108.13,-0.16:0.00,108.23,-0.16:0.00,-0.10,-0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.58,0.00:52,40,25:9.2,42.4,44.0:0,0,0:0,0,0:55,79,93:94,71,58:31,43,0:-,NM_001083538.1(POTEE) c.918-129A>G:-,NOT_FOUND:-,NOT_FOUND 2 131985955 . G . . NT END=131988408;NT GT ./. 2 131988269 rs4850270 T C 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.1961,C/0.8039;Gene=POTEE/NM_001083538.1/1;CC=c.1056-140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:50:49:0:0:1,25,24:10,767,749:-0.03,73.83,0.00:-0.02,74.13,0.00:-0.01,-0.30,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.67,0.00:53,52,60:10.0,39.6,12.2:0,0,0:0,0,0:26,33,28:124,118,119:0,22,22:NM_001083538.1(POTEE) c.1056-140T>C,-:0.81,-:NOT_FOUND,- 2 131988480 . G . . NT END=131994304;NT GT ./. 2 131994230 rs143181131 C A 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=887;PC=0.007;Gene=POTEE/NM_001083538.1/1;CC=c.1127-75C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:24:0:0:14,12:395,422:38.26,0.00:35.26,0.00:3.00,0.00:1.00,0.00:1.00,0.00:0.91,0.00:24,24:63.1,23.6:0,0:0,0:78,91:71,59:12,23:NM_001083538.1(POTEE) c.1127-75C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 131994312 rs201911310 G C 58 lc VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.03175,C/0.9683;NP=106;PC=0.001;Gene=POTEE/NM_001083538.1/1;CC=c.1134G>C;ProtCh=p.E378D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C,G:19:4:0:0:17,2:521,23:57.57,0.00:4.17,0.00:53.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:24,24:54.8,101.5:0,0:0,0:72,74:78,76:25,56:NM_001083538.1(POTEE) c.1134G>C (p.Glu378Asp),NM_001083538.1(POTEE) c.1134G>C (p.Glu378Asp):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 131994376 . G . . NT END=131995766;NT GT ./. 2 131995475 rs199828075 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=101;PC=0.001;Gene=POTEE/NM_001083538.1/1;CC=c.1198-292A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:8:8:0:0:5,3:139,106:0.00,9.74:0.00,9.74:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:42,27:11.0,107.0:0,0:0,0:9,71:141,79:2,0:-,NM_001083538.1(POTEE) c.1198-292A>G:-,NOT_FOUND:-,NOT_FOUND 2 131995493 rs200476582 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=73;PC=0.785;Gene=POTEE/NM_001083538.1/1;CC=c.1198-274C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:10:10:0:0:7,3:233,102:0.00,8.98:0.00,8.98:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:42,27:55.9,107.0:0,0:0,0:25,89:125,61:5,0:-,NM_001083538.1(POTEE) c.1198-274C>T:-,NOT_FOUND:-,NOT_FOUND 2 131995534 rs201536452 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=4;PC=0.008;Gene=POTEE/NM_001083538.1/1;CC=c.1198-233A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:13:13:0:0:9,4:285,88:0.00,7.19:0.00,7.19:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:42,27:27.0,125.8:0,0:0,0:61,130:89,20:15,5:-,NM_001083538.1(POTEE) c.1198-233A>G:-,NOT_FOUND:-,NOT_FOUND 2 131995604 rs200475300 ATTAT A 14 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=1;PC=0.022;Gene=POTEE/NM_001083538.1/1;CC=c.1198-155_1198-152delTTTA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:ATTAT,A:29:29:0:7:22,7:659,178:0.00,14.19:0.00,14.25:0.00,-0.06:0.00,0.96:0.00,0.96:0.00,0.49:42,34:21.4,69.6:0,0:0,0:52,24:99,126:27,8:-,NM_001083538.1(POTEE) c.1198-162_1198-159delTTAT:-,NOT_FOUND:-,NOT_FOUND 2 131995667 rs199606922 G C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=2;PC=0.012;Gene=POTEE/NM_001083538.1/1;CC=c.1198-100G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:58:55:0:0:10,48:312,1541:24.42,0.00:24.99,0.00:-0.57,0.00:0.99,0.00:1.00,0.00:0.82,0.00:34,56:70.2,2.4:0,0:0,0:74,35:76,116:15,21:NM_001083538.1(POTEE) c.1198-100G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 131995700 rs200698659 C T 26 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=11;Gene=POTEE/NM_001083538.1/1;CC=c.1198-67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:C,T:85:78:0:0:73,12:2288,355:0.00,26.22:0.00,24.31:0.00,1.91:0.00,1.00:0.00,1.00:0.00,0.97:56,34:2.6,67.8:0,0:0,0:47,100:104,50:26,20:-,NM_001083538.1(POTEE) c.1198-67C>T:-,NOT_FOUND:-,NOT_FOUND 2 131995812 . G . . NT END=131996850;NT GT ./. 2 131995963 rs368635513 G A 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.8626,A/0.1374;NP=441;PC=0.003;Gene=POTEE/NM_001083538.1/1;CC=c.1242+152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:0:0:0:14,17:472,542:44.62,0.00:0.00,0.00:44.62,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,40:38.9,5.4:0,0:0,0:76,104:74,47:16,31:NM_001083538.1(POTEE) c.1242+152G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 131997018 . G . . NT END=132002979;NT GT ./. 2 132003051 . G . . NT END=132008350;NT GT ./. 2 132008422 . G . . NT END=132010098;NT GT ./. 2 132010144 . G . . NT END=132010490;NT GT ./. 2 132010251 . A G 25 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;NP=3;PC=0.049;Gene=POTEE/NM_001083538.1/1;CC=c.1596+108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:17:0:0:20,9:597,286:0.00,25.11:0.00,27.05:0.00,-1.94:0.00,0.99:0.00,0.99:0.00,0.97:27,27:8.0,43.9:0,0:0,0:70,53:80,98:45,25:-,NM_001083538.1(POTEE) c.1596+108A>G:-,NOT_FOUND:-,NOT_FOUND 2 132010673 . G . . NT END=132019298;NT GT ./. 2 132010715 rs199997817 C T 65 nt VT=SNV;PN=G;NN=C;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=2;PC=0.006;Gene=POTEE/NM_001083538.1/1;CC=c.1778+43C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:121:14:0:0:1,94,26:12,2862,798:-0.20,0.00,65.00:-0.03,0.00,11.29:-0.16,0.00,53.71:0.00,0.00,1.00:0.00,0.00,0.93:0.00,0.00,1.00:25,27,24:23.0,7.2,38.0:0,0,0:0,0,0:7,94,116:143,57,34:0,35,32:-,NM_001083538.1(POTEE) c.1778+43C>T:-,NOT_FOUND:-,NOT_FOUND 2 132011013 rs200781960 G A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=POTEE/NM_001083538.1/1;CC=c.1778+341G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:8:0:0:0:6,2:187,64:19.61,0.00:0.00,0.00:19.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:40,44:32.3,97.5:0,0:0,0:137,90:13,53:11,46:NM_001083538.1(POTEE) c.1778+341G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132019420 . G . . NT END=132020927;NT GT ./. 2 132019440 . C A 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;Gene=POTEE/NM_001083538.1/1;CC=c.1899+21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,C:19:13:0:0:4,15:132,521:10.86,0.00:11.48,0.00:-0.61,0.00:0.72,0.00:0.91,0.00:0.73,0.00:24,40:41.5,9.9:0,0:0,0:90,118:60,31:7,18:NM_001083538.1(POTEE) c.1899+21C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132021629 rs7424029 G T 242 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=483;DB;DBA=NA;PAF=NA;NP=1;NP=114;PC=1.000;Gene=POTEE/NM_001083538.1/1;CC=c.2601G>T;ProtCh=p.E867D;VC=Missense;DM=POTEE/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:483:318:0:0:384,99:12219,3007:0.00,241.77:0.00,257.29:0.00,-15.52:0.00,1.00:0.00,1.00:0.00,1.00:53,40:10.6,43.0:0,0:0,0:76,48:71,103:32,24:-,NM_001083538.1(POTEE) c.2601G>T (p.Glu867Asp):-,NOT_FOUND:-,NOT_FOUND 2 132021946 rs62178369 G A 462 lc VT=SNV;PN=G;NN=C;SST=Single;DP=371;DB;DBA=NA;PAF=NA;NP=315;PC=1.000;Gene=POTEE/NM_001083538.1/1;CC=c.2918G>A;ProtCh=p.G973D;VC=Missense;DM=POTEE/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:371:80:0:0:162,1,208:4949,9,6814:461.99,-0.25,0.00:59.68,-0.05,0.00:402.30,-0.20,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,40,42:46.0,39.0,10.4:0,0,0:0,0,0:111,47,87:39,104,62:26,0,36:NM_001083538.1(POTEE) c.2918G>A (p.Gly973Asp),-:NOT_FOUND,-:NOT_FOUND,- 2 132022031 . C T 216 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=179;NP=312;PC=1.000;Gene=POTEE/NM_001083538.1/1;CC=c.3003C>T;ProtCh=p.G1001=;VC=Silent;DM=POTEE/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:179:12:0:0:106,73:3042,2335:0.00,215.94:0.00,-2.72:0.00,218.66:0.00,1.00:0.00,0.99:0.00,1.00:40,40:17.0,61.0:0,0:0,0:103,102:46,48:34,29:-,NM_001083538.1(POTEE) c.3003C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 132022257 . G . . NT END=132120528;NT GT ./. 2 132044577 rs142138209 T G 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.007987,G/0.992;PC=0.003;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:12:0:0:12:362:41.89:41.89:0.00:1.00:1.00:0.00:40:37.0:0:0:59:92:27:NR_030728.1(LOC440910) n.99-1751T>G,NR_030728.1(LOC440910) n.99-1751T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 132044730 rs113283708 G A 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=NA;PC=0.855;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:84:0:0:25,73:779,2283:65.68,0.00:40.99,0.00:24.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:176.4,11.9:0,0:0,0:23,33:120,108:10,22:NR_030728.1(LOC440910) n.99-1598G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132044746 rs76191423 C A 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=19;PC=0.031;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:117:96:0:0:29,88:913,2889:76.71,0.00:46.74,0.00:29.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:181.6,8.9:0,0:0,0:38,43:105,105:11,28:NR_030728.1(LOC440910) n.99-1582C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132044787 rs112500726 G A 109 nt VT=SNV;PN=G;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=NA;NP=9;PC=0.194;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:113:0:0:39,112:1281,3625:109.28,0.00:57.01,0.00:52.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:190.1,7.3:0,0:0,0:61,54:84,90:20,24:NR_030728.1(LOC440910) n.99-1541G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132044797 rs202043310 C A 109 nt VT=SNV;PN=G;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=NA;NP=7;PC=0.524;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:154:110:0:0:39,115:1278,3737:108.61,0.00:56.04,0.00:52.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:186.8,9.0:0,0:0,0:77,70:73,77:18,27:NR_030728.1(LOC440910) n.99-1531C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132044842 rs200096129 G A 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=NA;PC=0.086;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:147:85:0:0:22,125:718,4148:55.39,0.00:20.27,0.00:35.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:214.0,36.8:0,0:0,0:102,102:48,46:21,24:NR_030728.1(LOC440910) n.99-1486G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132044849 . T A 119 nt VT=SNV;PN=C;NN=T;SST=Single;DP=142;NP=11;PC=0.001;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:142:77:0:0:41,101:1365,3277:119.03,0.00:39.72,0.00:79.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:203.3,5.8:0,0:0,0:119,98:32,43:22,26:NR_030728.1(LOC440910) n.99-1479T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132044876 . T C 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=109;PC=0.531;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:109:50:0:0:28,81:888,2598:75.21,0.00:25.33,0.00:49.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:217.8,9.7:0,0:0,0:123,98:27,44:13,24:NR_030728.1(LOC440910) n.99-1452T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 132044881 . A G 64 nt VT=SNV;PN=G;NN=C;SST=Single;DP=100;PC=0.643;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:100:41:0:0:77,22,1:2398,765,11:0.00,64.24,-0.21:0.00,17.02,0.04:0.00,47.22,-0.25:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,51,12:8.3,219.3,248.0:0,0,0:0,0,0:112,122,118:32,28,28:19,9,0:-,NR_030728.1(LOC440910) n.99-1447A>G:-,NOT_FOUND:-,NOT_FOUND 2 132044903 . G A 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=73;PC=0.489;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:73:22:0:0:15,57,1:491,1779,11:40.27,0.00,-0.18:14.00,0.00,-0.06:26.27,0.00,-0.12:1.00,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:45,55,30:224.5,7.3,280.0:0,0,0:0,0,0:140,119,121:6,30,18:5,18,0:NR_030728.1(LOC440910) n.99-1425G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132044992 rs4850179 T C 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.007987,C/0.992;PC=0.003;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:2:12:386:44.30:0.00:44.30:1.00:0.00:1.00:48:47.7:0:0:120:30:23:NR_030728.1(LOC440910) n.99-1336T>C,NR_030728.1(LOC440910) n.99-1336T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132045098 rs4850180 C G 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2129,G/0.7871;PC=0.004;Gene=LOC440910/NR_030728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,G:7:0:0:0:4,3:76,78:0.00,7.16:0.00,0.00:0.00,7.16:0.00,0.69:0.00,0.00:0.00,0.69:60,41:6.0,48.7:0,0:0,0:74,97:74,53:16,7:-,NR_030728.1(LOC440910) n.99-1230C>G:-,NOT_FOUND:-,NOT_FOUND 2 132086805 rs1852555 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3267,C/0.6733;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,T:13:7:0:0:6,7:177,233:16.66,0.00:5.14,0.00:11.52,0.00:0.97,0.00:0.98,0.00:0.99,0.00:51,60:31.7,1.6:0,0:0,0:129,90:20,61:9,27:chr2 g.132086804T>C (intergenic),-:0.66,-:NOT_FOUND,- 2 132087293 rs371749157 C T 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.9972,T/0.002796;NP=16;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,T:15:13:0:0:8,7:275,168:0.00,15.59:0.00,13.19:0.00,2.40:0.00,0.99:0.00,1.00:0.00,0.92:42,55:1.1,37.3:0,0:0,0:74,48:77,103:38,35:-,chr2 g.132087292C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132110123 rs34283659 G A 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.227,A/0.773,C/.;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:17:0:0:8,12:243,376:22.27,0.00:12.64,0.00:9.63,0.00:0.99,0.00:1.00,0.00:0.97,0.00:60,60:39.8,18.8:0,0:0,0:44,35:106,115:14,19:chr2 g.132110122G>A (intergenic),-:0.78,-:NOT_FOUND,- 2 132110463 rs12477219 G C 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.2248,C/0.7752;PC=0.863 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:44:27:0:0:19,25:640,767:60.01,0.00:24.87,0.00:35.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,12.3:0,0:0,0:110,78:41,63:17,43:chr2 g.132110462G>C (intergenic),-:0.8,-:NOT_FOUND,- 2 132111121 rs11895354 G A 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.2276,A/0.7724;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:5:0:0:9:208:24.98:13.01:11.97:1.00:1.00:1.00:44:104.3:0:0:84:46:25:chr2 g.132111120G>A (intergenic),chr2 g.132111120G>A (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 2 132111123 rs62179972 T C 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2276,C/0.7724;NP=120;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:6:0:0:10:329:37.67:19.82:17.85:1.00:1.00:1.00:44:101.3:0:0:85:44:14:chr2 g.132111122T>C (intergenic),chr2 g.132111122T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 132111127 rs13410274 G T 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.2276,T/0.7724;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:6:0:0:10:277:32.38:19.56:12.83:1.00:1.00:1.00:44:101.3:0:0:89:40:14:chr2 g.132111126G>T (intergenic),chr2 g.132111126G>T (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 2 132111153 rs373260880 T TGCCGCCGCCGCC 10 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=79;PC=0.020;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:T,TGCCGCCGCCGCC:11:6:5:0:7,4:189,150:0.00,10.47:0.00,9.05:0.00,1.42:0.00,0.80:0.00,0.42:0.00,0.42:44,43:96.4,110.2:1,1:0,0:116,31:14,120:1,13:-,chr2 g.132111153_132111154insGCCGCCGCCGCC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132111167 rs13410287 G C 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=360;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:5:0:0:8:263:30.11:14.51:15.61:1.00:1.00:1.00:60:83.5:0:0:51:93:15:chr2 g.132111166G>C (intergenic),chr2 g.132111166G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 132120501 rs56985094 C CT 149 rn VT=INS;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.2628,CT/0.7372,CTT/.;DB;DBA=NA;PAF=C/0.2628,CT/0.7372;NP=3166;PC=1.000;Gene=WTH3DI/NM_001077637.1/1;CC=c.*27dupA;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:128:117:51:0:77,51:2508,1623:0.00,149.28:0.00,119.21:0.00,30.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,3.7:2,0:0,0:54,48:93,101:35,28:-,NM_001077637.1(WTH3DI) c.*27dupA:-,0.73:-,NOT_FOUND 2 132121294 . G . . NT END=132227897;NT GT ./. 2 132121350 rs1881001 G C 59 nt VT=SNV;PN=T;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=NA;NP=163;PC=0.949;Gene=WTH3DI/NM_001077637.1/1;CC=c.-57C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:101:46:0:0:22,79:716,2657:59.13,0.00:24.69,0.00:34.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,6.7:0,0:0,0:52,106:98,42:35,23:NM_001077637.1(WTH3DI) c.-57C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 132121559 rs6741338 G A 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.008387,A/0.9916;PC=0.057;Gene=WTH3DI/NM_001077637.1/1;CC=c.-266C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:347:39.94:0.00:39.94:1.00:0.00:1.00:60:63.8:0:0:104:45:23:NM_001077637.1(WTH3DI) c.-266C>T,NM_001077637.1(WTH3DI) c.-266C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 132121611 rs556157615 A G 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9926,G/0.007388;NP=1;PC=0.006;Gene=WTH3DI/NM_001077637.1/1;CC=c.-318T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:6:0:0:0:4,2:102,70:0.00,6.30:0.00,0.00:0.00,6.30:0.00,0.42:0.00,0.00:0.00,0.42:60,40:27.5,168.0:0,0:0,0:49,124:102,27:44,10:-,NM_001077637.1(WTH3DI) c.-318T>C:-,NOT_FOUND:-,NOT_FOUND 2 132200568 rs62176150 C T 188 nt VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.8612,T/0.1388;PC=1.000;Gene=LOC401010/NR_002826.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:T:50:46:0:0:50:1640:187.76:146.60:41.16:1.00:1.00:1.00:60:42.2:0:0:50:89:30:NR_002826.2(LOC401010) n.1900G>A,NR_002826.2(LOC401010) n.1900G>A:0.14,0.14:NOT_FOUND,NOT_FOUND 2 132227917 . C . . NT END=132229640;NT GT ./. 2 132229756 . C . . NT END=132233772;NT GT ./. 2 132229936 rs2928815 A G 121 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.865,G/0.135;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A,G:34:0:0:0:1,33:12,1075:0.00,121.45:0.00,0.00:0.00,121.45:0.00,1.00:0.00,0.00:0.00,1.00:56,60:120.0,60.7:0,0:0,0:5,114:143,37:0,24:NM_080386.3(TUBA3D) c.-193-u3644A>G,NM_080386.3(TUBA3D) c.-193-u3644A>G:0.11,0.11:NOT_FOUND,NOT_FOUND 2 132229958 rs2928816 G A 77 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.74,A/0.26;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:0:0:0:23:665:77.40:0.00:77.40:1.00:0.00:1.00:59:68.0:0:0:107:44:29:NM_080386.3(TUBA3D) c.-193-u3622G>A,NM_080386.3(TUBA3D) c.-193-u3622G>A:0.21,0.21:NOT_FOUND,NOT_FOUND 2 132233776 . G . . NT END=132235736;NT GT ./. 2 132235960 . G . . NT END=132236880;NT GT ./. 2 132237030 . G . . NT END=132237641;NT GT ./. 2 132237643 rs72992288 C T 49 lc VT=SNV;PN=G;NN=G;SST=Single;DP=287;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA3D/NM_080386.3/1;CC=c.377C>T;ProtCh=p.A126V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,C,G,T:287:255:0:0:2,260,1,24:21,8531,18,729:-0.63,0.00,-0.15,48.75:-0.48,0.00,-0.04,45.98:-0.15,0.00,-0.10,2.76:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:52,60,60,44:43.5,6.7,235.0,86.7:0,0,0,0:0,0,0,0:49,67,69,50:101,82,82,86:3,34,0,23:-,NM_080386.3(TUBA3D) c.377C>T (p.Ala126Val):-,NOT_FOUND:-,NOT_FOUND 2 132237732 rs145612794 C T 89 sb,lc VT=SNV;PN=G;NN=G;SST=Single;DP=410;DB;DBA=NA;PAF=NA;NP=96;PC=1.000;Gene=TUBA3D/NM_080386.3/1;CC=c.466C>T;ProtCh=p.R156W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:410:315:0:0:1,363,46:10,11569,1295:-0.29,0.00,89.35:-0.16,0.00,93.25:-0.13,0.00,-3.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:27,54,53:84.0,9.3,76.0:0,0,0:0,0,0:110,70,23:41,76,128:0,39,16:-,NM_080386.3(TUBA3D) c.466C>T (p.Arg156Trp):-,0.11:-,NOT_FOUND 2 132237750 . G A 174 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=458;NP=65;PC=1.000;Gene=TUBA3D/NM_080386.3/1;CC=c.484G>A;ProtCh=p.G162S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:458:364:0:0:69,1,386,2:2251,12,11744,24:174.10,-0.30,0.00,-0.53:173.96,-0.16,0.00,-0.25:0.14,-0.14,0.00,-0.28:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:41,43,54,43:56.4,214.0,9.2,104.0:0,0,0,0:0,0,0,0:23,34,61,108:126,117,83,37:16,0,36,18:NM_080386.3(TUBA3D) c.484G>A (p.Gly162Ser),-:NOT_FOUND,-:NOT_FOUND,- 2 132237927 rs200147665 C A 305 lc VT=SNV;PN=A;NN=G;SST=Single;DP=561;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA3D/NM_080386.3/1;CC=c.661C>A;ProtCh=p.R221S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:561:331:0:0:112,449:3736,14158:305.38,0.00:44.91,0.00:260.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:44,60:43.4,9.5:0,0:0,0:121,79:27,71:14,39:NM_080386.3(TUBA3D) c.661C>A (p.Arg221Ser),-:NOT_FOUND,-:NOT_FOUND,- 2 132238323 . G . . NT END=132240124;NT GT ./. 2 132238483 rs375835410 C CT 14 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=TUBA3D/NM_080386.3/1;CC=c.1056+174_1056+175insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,CT,D:36:0:7:2:28,6,2:914,211,66:0.00,13.78,4.35:0.00,0.00,0.00:0.00,13.78,4.35:0.00,0.88,0.00:0.00,0.00,0.00:0.00,0.88,0.00:60,60,60:10.3,17.8,15.0:0,1,0:0,0,0:122,81,93:28,69,57:19,31,24:-,NM_080386.3(TUBA3D) c.1056+161_1056+162insT:-,NOT_FOUND:-,NOT_FOUND 2 132240422 . G . . NT END=132241532;NT GT ./. 2 132241502 rs59953699 T TA 38 idl,rn VT=INS;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=4;PC=0.112;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,C,T,TA,D:85:86:21:18:1,1,58,15,10:10,13,1766,649,531:-0.15,-0.06,0.00,37.86,22.96:-0.21,-0.21,0.00,28.77,18.03:0.06,0.15,0.00,9.09,4.93:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.96,0.00:60,60,60,60,60:10.0,54.0,11.4,34.3,7.4:0,0,0,6,7:0,0,0,0,0:14,13,58,38,30:137,138,92,109,121:0,0,38,23,22:-,chr2 g.132241502_132241503insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132241792 . C . . NT END=132248196;NT GT ./. 2 132248466 . C . . NT END=132249448;NT GT ./. 2 132248584 rs10182785 T C 170 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=MZT2A/NM_001085365.1/1;CC=c.319+865A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:C:47:11:0:0:47:1473:169.63:23.31:146.32:1.00:1.00:1.00:60:38.4:0:0:116:33:16:NM_001085365.1(MZT2A) c.319+865A>G,NM_001085365.1(MZT2A) c.319+865A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 132249372 rs6706952 C T 427 nt VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.1995,T/0.8005;Gene=MZT2A/NM_001085365.1/1;CC=c.319+77G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:120:109:0:0:3,1,116:49,8,3772:0.00,0.04,426.98:0.00,-0.01,356.53:0.00,0.05,70.45:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,60:77.0,27.0,43.9:0,0,0:0,0,0:134,22,62:17,129,88:7,0,25:NM_001085365.1(MZT2A) c.319+77G>A,NM_001085365.1(MZT2A) c.319+77G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 132249598 . C . . NT END=132249779;NT GT ./. 2 132250112 . A . . NT END=132285543;NT GT ./. 2 132250355 rs189766392 G C 181 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.8732,C/0.1268;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:C,G:54:50:0:0:52,2:1597,64:180.72,0.00:172.61,0.00:8.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,15.5:0,1:0,0:85,62:63,77:36,39:NM_001085365.1(MZT2A) c.-115-u291C>G,NM_001085365.1(MZT2A) c.-115-u291C>G:0.13,0.13:NOT_FOUND,NOT_FOUND 2 132250887 rs12691979 T C 281 nt VT=SNV;PN=C;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.01478,C/0.9852;Gene=LOC150776/NR_026922.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:78:38:0:0:78:2435:280.62:93.47:187.15:1.00:1.00:1.00:60:40.6:0:0:82:66:39:NR_026922.1(LOC150776) n.328+174T>C,NR_026922.1(LOC150776) n.328+174T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 132272235 . G GA 9 rn VT=INS;SST=Single;DP=45;NP=1;PC=0.005;Gene=LOC150776/NR_026922.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GA,D:45:43:4:2:39,4,2:1347,128,67:0.00,8.93,4.18:0.00,7.76,4.30:0.00,1.17,-0.12:0.00,0.57,0.00:0.00,0.93,0.00:0.00,0.57,0.00:60,60,60:3.7,25.5,11.0:0,0,0:0,0,0:68,83,63:81,67,88:40,17,39:-,NR_026922.1(LOC150776) n.1235-940_1235-939insA:-,NOT_FOUND:-,NOT_FOUND 2 132273988 rs199565961 GC G 96 nt VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=GC/0.8377,G/0.1623;NP=522;Gene=LOC150776/NR_026922.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:37:13:0:29:8,29:248,904:0.00,95.84:0.00,23.68:0.00,72.16:0.00,1.00:0.00,1.00:0.00,1.00:60,58:21.0,40.9:0,0:0,0:144,94:4,54:6,22:-,NR_026922.1(LOC150776) n.1471+12delC:-,0.15:-,NOT_FOUND 2 132273994 rs199997150 T G 109 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.8371,G/0.1629;Gene=LOC150776/NR_026922.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A,G:30:10:0:0:1,29:11,961:0.33,109.45:0.00,22.55:0.33,86.90:0.00,1.00:0.00,1.00:0.00,1.00:40,58:79.0,41.1:1,28:0,0:21,99:130,49:0,23:NR_026922.1(LOC150776) n.1471+17T>G,NR_026922.1(LOC150776) n.1471+17T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 132276861 rs185055024 G A 102 nt VT=SNV;PN=C;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.9956,A/0.004393;NP=36;PC=0.006;Gene=LOC150776/NR_026922.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:36:0:0:35,40:1079,1284:102.10,0.00:41.15,0.00:60.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,43:41.5,8.8:0,0:0,0:101,106:50,44:27,25:NR_026922.1(LOC150776) n.2176+5G>A,-:0.01,-:NOT_FOUND,- 2 132285256 rs1812765 T C 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.03395,A/.,C/0.9661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:367:42.83:42.83:0.00:1.00:1.00:0.00:60:58.3:0:0:66:85:27:NM_138770.2(CCDC74A) c.-137-u151T>C,NM_138770.2(CCDC74A) c.-137-u151T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132285920 . G . . NT END=132287219;NT GT ./. 2 132287265 . G . . NT END=132287486;NT GT ./. 2 132288362 rs201632382 T C 78 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=233;DB;DBA=NA;PAF=NA;NP=986;Gene=CCDC74A/NM_001258304.1/0;CC=c.632T>C;ProtCh=p.M211T;VC=Missense;Gene=CCDC74A/NM_001258305.1/0;CC=c.506T>C;ProtCh=p.M169T;VC=Missense;Gene=CCDC74A/NM_001258306.1/1;CC=c.308T>C;ProtCh=p.M103T;VC=Missense;Gene=CCDC74A/NM_138770.2/0;CC=c.506T>C;ProtCh=p.M169T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:233:93:0:0:34,199:1038,6523:78.00,0.00:-1.17,0.00:79.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:39,60:34.4,4.7:0,0:0,0:114,85:37,58:16,36:NM_138770.2(CCDC74A) c.506T>C (p.Met169Thr),-:0.41,-:NOT_FOUND,- 2 132288401 . G . . NT END=132289195;NT GT ./. 2 132289349 rs147297526 A G 23 sb,lc VT=SNV;PN=A;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.8373,G/0.1627;PC=0.018;Gene=CCDC74A/NM_001258304.1/0;CC=c.783A>G;ProtCh=p.K261=;VC=Silent;Gene=CCDC74A/NM_001258305.1/0;CC=c.657A>G;ProtCh=p.K219=;VC=Silent;Gene=CCDC74A/NM_001258306.1/1;CC=c.459A>G;ProtCh=p.K153=;VC=Silent;Gene=CCDC74A/NM_138770.2/0;CC=c.657A>G;ProtCh=p.K219=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G:91:43:0:0:81,10:2686,320:0.00,23.10:0.00,1.68:0.00,21.42:0.00,0.98:0.00,0.97:0.00,1.00:60,40:9.5,33.0:0,0:0,0:86,90:63,59:39,9:-,NM_138770.2(CCDC74A) c.657A>G (p.(=)):-,0.26:-,NOT_FOUND 2 132289376 . G . . NT END=132290161;NT GT ./. 2 132289517 rs559258140 T A 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=207;Gene=CCDC74A/NM_001258304.1/0;CC=c.809+142T>A;VC=Intron;Gene=CCDC74A/NM_001258305.1/0;CC=c.683+142T>A;VC=Intron;Gene=CCDC74A/NM_001258306.1/1;CC=c.485+142T>A;VC=Intron;Gene=CCDC74A/NM_138770.2/0;CC=c.683+142T>A;VC=Intron;DM=CCDC74A/CCDC74_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,T:31:1:0:0:5,26:158,853:12.25,0.00:-0.04,0.00:12.29,0.00:0.80,0.00:0.44,0.00:0.80,0.00:39,43:43.6,11.3:0,0:0,0:82,122:69,27:25,14:NM_138770.2(CCDC74A) c.683+142T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 132289908 rs370087372 T C 7 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;NP=152;Gene=CCDC74A/NM_001258304.1/0;CC=c.810-389T>C;VC=Intron;Gene=CCDC74A/NM_001258305.1/0;CC=c.684-529T>C;VC=Intron;Gene=CCDC74A/NM_001258306.1/1;CC=c.486-254T>C;VC=Intron;Gene=CCDC74A/NM_138770.2/0;CC=c.684-254T>C;VC=Intron;DM=CCDC74A/CCDC74_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:9:9:0:0:3,6:81,168:7.04,0.00:7.04,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:40,42:40.3,4.5:0,0:0,0:3,47:146,104:3,21:NM_138770.2(CCDC74A) c.684-254T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 132290355 . G . . NT END=132290436;NT GT ./. 2 132290441 rs76069883 G A 66 lc VT=SNV;PN=C;NN=G;SST=Single;DP=206;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CCDC74A/NM_001258304.1/0;CC=c.872G>A;ProtCh=p.R291Q;VC=Missense;Gene=CCDC74A/NM_001258305.1/0;CC=c.688G>A;ProtCh=p.G230S;VC=Missense;Gene=CCDC74A/NM_001258306.1/1;CC=c.683G>A;ProtCh=p.R228Q;VC=Missense;Gene=CCDC74A/NM_138770.2/0;CC=c.881G>A;ProtCh=p.R294Q;VC=Missense;DM=CCDC74A/CCDC74_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:206:128:0:0:27,179:878,5484:66.00,0.00:50.52,0.00:15.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,60:53.4,6.9:0,0:0,0:23,65:126,85:7,32:NM_138770.2(CCDC74A) c.881G>A (p.Arg294Gln),-:0.02,-:NOT_FOUND,- 2 132290511 . G . . NT END=132290585;NT GT ./. 2 132290643 . G . . NT END=132290841;NT GT ./. 2 132290972 . G . . NT END=132509130;NT GT ./. 2 132295411 rs397694660 A ATG 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7764,G/0.2236;DB;DBA=NA;PAF=NA;NP=3;PC=0.009;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATG:4:2:3:0:1,3:33,101:0.00,10.55:0.00,5.53:0.00,5.03:0.00,0.85:0.00,0.95:0.00,0.99:60,60:0.0,4.0:0,0:0,0:134,83:17,67:0,16:-,chr2 g.132295411_132295412insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132303112 rs145602395 A AGTGTGT 13 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=4;NP=5;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,AGTGTGT:8:7:6:0:3,5:75,152:0.00,12.80:0.00,7.79:0.00,5.01:0.00,0.96:0.00,0.99:0.00,0.99:60,70:13.7,35.4:0,1:0,0:110,45:35,71:8,28:-,chr2 g.132303112_132303113insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132349222 rs6711357 A C 875 nt VT=SNV;PN=A;NN=G;SST=Single;DP=238;DB;DBA=NA;PAF=A/0.02895,C/0.971 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:238:224:0:0:238:7621:875.07:747.37:127.70:1.00:1.00:1.00:60:72.6:0:0:40:108:21:XR_158979.1(POTEKP) n.-46A>C,XR_158979.1(POTEKP) n.-46A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132349224 rs6751575 G C 901 nt VT=SNV;PN=G;NN=G;SST=Single;DP=240;DB;DBA=NA;PAF=G/0.02416,C/0.9758 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:240:226:0:0:240:7870:900.60:773.89:126.71:1.00:1.00:1.00:60:72.1:0:0:41:107:21:XR_158979.1(POTEKP) n.-44G>C,XR_158979.1(POTEKP) n.-44G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132349413 rs6751827 G A 2010 nt VT=SNV;PN=C;NN=C;SST=Single;DP=567;DB;DBA=NA;PAF=G/0.04692,A/0.9531 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:567:376:0:0:566,1:17427,8:2009.51,0.00:1093.06,0.00:916.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,45:47.0,141.0:0,0:0,0:85,62:62,89:34,0:XR_158979.1(POTEKP) n.146G>A,XR_158979.1(POTEKP) n.146G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132349943 rs12692039 C T 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.05791,T/0.9421 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:0:0:0:16:541:61.73:0.00:61.73:1.00:0.00:1.00:60:38.6:0:0:92:58:34:XR_158979.1(POTEKP) n.410+266C>T,XR_158979.1(POTEKP) n.410+266C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 132354365 rs2136463 G C 642 nt VT=SNV;PN=C;NN=T;SST=Single;DP=177;DB;DBA=NA;PAF=G/0.002596,C/0.9974;PC=0.876;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:177:160:0:0:1,176:9,5587:0.05,641.86:0.00,463.82:0.05,178.04:0.00,1.00:0.00,1.00:0.00,1.00:57,60:33.0,47.1:0,0:0,0:40,46:111,100:0,23:XR_158979.1(POTEKP) n.429G>C,XR_158979.1(POTEKP) n.429G>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 132354479 rs6704592 C A 733 nt VT=SNV;PN=T;NN=T;SST=Single;DP=203;DB;DBA=NA;PAF=C/0.04553,A/0.9545;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:203:128:0:0:203:6366:733.10:419.32:313.78:1.00:1.00:1.00:60:54.8:0:0:80:69:36:XR_158979.1(POTEKP) n.525+18C>A,XR_158979.1(POTEKP) n.525+18C>A:0.83,0.83:NOT_FOUND,NOT_FOUND 2 132354586 rs6710546 A G 1082 nt VT=SNV;PN=A;NN=G;SST=Single;DP=296;DB;DBA=NA;PAF=A/0.02037,G/0.9796;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:296:219:0:0:1,295:11,9436:0.00,1081.92:0.00,704.47:0.00,377.45:0.00,1.00:0.00,1.00:0.00,1.00:40,60:37.0,45.5:0,0:0,0:31,62:119,89:0,30:XR_158979.1(POTEKP) n.526-35A>G,XR_158979.1(POTEKP) n.526-35A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132354807 rs6705059 C T 704 nt VT=SNV;PN=C;NN=A;SST=Single;DP=190;DB;DBA=NA;PAF=C/0.04633,T/0.9537;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:190:52:0:0:190:6138:704.18:132.53:571.65:1.00:1.00:1.00:60:53.9:0:0:104:44:28:XR_158979.1(POTEKP) n.699+13C>T,XR_158979.1(POTEKP) n.699+13C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 132354853 rs6705083 C G 445 nt VT=SNV;PN=C;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=NA;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:121:20:0:0:1,119,1:8,3888,11:0.05,444.53,0.10:0.00,43.15,0.00:0.05,401.38,0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:56,60,60:41.0,65.4,44.0:0,0,0:0,0,0:98,101,34:53,50,117:0,29,0:XR_158979.1(POTEKP) n.699+59C>G,XR_158979.1(POTEKP) n.699+59C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132354982 . G GT 9 rn VT=INS;SST=Single;DP=34;NP=2;PC=0.001;Gene=POTEKP/NR_033885.2/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,GT,D:33:1:5:1:28,4,1:818,160,28:0.00,9.28,1.39:0.00,-0.03,-0.01:0.00,9.31,1.40:0.00,0.62,0.00:0.00,0.41,0.00:0.00,0.62,0.00:60,60,60:32.3,18.5,0.0:0,1,0:0,0,0:98,78,84:51,73,66:25,11,0:-,XR_158979.1(POTEKP) n.699+188_699+189insT:-,NOT_FOUND:-,NOT_FOUND 2 132355110 rs397985908 CA C 9 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CA/0.6102,C/0.3898;DB;DBA=NA;PAF=CA/0.6102,C/0.3898;NP=97;PC=0.064;Gene=POTEKP/NR_033885.2/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:CA,C:8:0:0:3:5,3:167,99:0.00,9.03:0.00,0.00:0.00,9.03:0.00,0.67:0.00,0.00:0.00,0.67:60,60:16.6,0.0:0,0:0,0:137,126:14,24:13,2:-,XR_158979.1(POTEKP) n.699+317delA:-,0.39:-,NOT_FOUND 2 132357474 rs1848717 C T 148 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.04593,T/0.9541;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:40:0:0:40:1287:147.77:145.83:1.94:1.00:1.00:1.00:53:36.2:0:0:52:99:31:XR_158979.1(POTEKP) n.700-104C>T,XR_158979.1(POTEKP) n.700-104C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132357667 rs4107587 A G 468 nt VT=SNV;PN=C;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.05431,G/0.9457;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:125:65:0:0:125:4085:467.92:169.73:298.19:1.00:1.00:1.00:52:39.2:0:0:80:71:37:XR_158979.1(POTEKP) n.789A>G,XR_158979.1(POTEKP) n.789A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 132357850 rs6430893 T C 79 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.04473,C/0.9553;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C,T:25:0:0:0:24,1:688,10:78.55,0.00:0.00,0.00:78.55,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.0,48.0:0,0:0,0:108,50:43,77:24,0:XR_158979.1(POTEKP) n.806+166T>C,XR_158979.1(POTEKP) n.806+166T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132358779 rs6430894 G A 82 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.04633,A/0.9537;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:24:0:0:24:711:82.48:82.48:0.00:1.00:1.00:0.00:60:63.8:0:0:55:95:39:XR_158979.1(POTEKP) n.807-217G>A,XR_158979.1(POTEKP) n.807-217G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132358911 rs6430895 G A 339 nt VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.04533,A/0.9547;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:89:81:0:0:89:2963:338.70:273.04:65.66:1.00:1.00:1.00:60:52.0:0:0:36:114:26:XR_158979.1(POTEKP) n.807-85G>A,XR_158979.1(POTEKP) n.807-85G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132359034 rs6430896 A G 770 nt VT=SNV;PN=A;NN=T;SST=Single;DP=204;DB;DBA=NA;PAF=A/0.02017,G/0.9798;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:204:140:0:0:1,203:12,6735:0.09,769.69:0.00,398.38:0.09,371.31:0.00,1.00:0.00,1.00:0.00,1.00:57,60:91.0,90.8:0,0:0,0:26,76:124,71:0,36:XR_158979.1(POTEKP) n.845A>G,XR_158979.1(POTEKP) n.845A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 132359063 rs60230063 A G 777 nt VT=SNV;PN=T;NN=T;SST=Single;DP=204;DB;DBA=NA;PAF=NA;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:204:135:0:0:1,203:16,6807:0.20,776.89:0.20,389.99:0.00,386.90:0.00,1.00:0.00,1.00:0.00,1.00:55,60:80.0,95.0:0,0:0,0:148,79:3,70:0,35:XR_158979.1(POTEKP) n.874A>G,XR_158979.1(POTEKP) n.874A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 132359089 rs60809087 C A 739 nt VT=SNV;PN=A;NN=A;SST=Single;DP=202;DB;DBA=NA;PAF=NA;PC=0.001;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:202:137:0:0:201,1:6435,12:738.65,0.09:360.30,0.09:378.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,40:92.9,165.0:0,0:0,0:83,140:66,11:36,0:XR_158979.1(POTEKP) n.901C>A,XR_158979.1(POTEKP) n.901C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 132359185 rs62176601 T C 164 nt VT=SNV;PN=A;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=NA;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:122:48:0:0:52,70:1757,2224:164.36,0.00:58.79,0.00:105.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.4,49.9:0,0:0,0:93,100:56,44:27,26:XR_158979.1(POTEKP) n.941+56T>C,-:0.58,-:NOT_FOUND,- 2 132359263 rs60766309 T C 200 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C:52:3:0:0:52:1752:199.96:9.59:190.37:1.00:1.00:1.00:52:72.3:0:0:108:42:23:XR_158979.1(POTEKP) n.941+134T>C,XR_158979.1(POTEKP) n.941+134T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132359348 rs13012950 T C 77 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.04533,C/0.9547;PC=0.013;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:0:0:0:23:659:76.76:0.00:76.76:1.00:0.00:1.00:53:147.1:0:0:73:78:25:XR_158979.1(POTEKP) n.941+219T>C,XR_158979.1(POTEKP) n.941+219T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132359357 rs13012963 T C 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.04533,C/0.9547;PC=0.033;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:0:0:0:23:699:80.80:0.00:80.80:1.00:0.00:1.00:53:152.3:0:0:77:73:23:XR_158979.1(POTEKP) n.941+228T>C,XR_158979.1(POTEKP) n.941+228T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 132359390 rs13012990 T C 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.04533,C/0.9547;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:0:0:0:20:619:71.41:0.00:71.41:1.00:0.00:1.00:53:160.2:0:0:101:50:18:XR_158979.1(POTEKP) n.941+261T>C,XR_158979.1(POTEKP) n.941+261T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 132359391 rs13026901 G A 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.04533,A/0.9547;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:0:0:0:20:635:73.03:0.00:73.03:1.00:0.00:1.00:53:160.2:0:0:102:49:18:XR_158979.1(POTEKP) n.941+262G>A,XR_158979.1(POTEKP) n.941+262G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 132359416 rs13026912 G T 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.02017,A/.,T/0.9798;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A,T:18:0:0:0:1,17:11,524:0.46,60.05:0.00,0.00:0.46,60.05:0.00,1.00:0.00,0.00:0.00,1.00:57,43:42.0,150.8:0,0:0,0:0,114:151,36:0,22:XR_158979.1(POTEKP) n.941+287G>T,XR_158979.1(POTEKP) n.941+287G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132361288 rs6717180 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02017,G/0.9798;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:142:16.11:14.07:2.04:1.00:1.00:1.00:60:37.8:0:0:68:82:33:XR_158979.1(POTEKP) n.942-303A>G,XR_158979.1(POTEKP) n.942-303A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132361453 rs6720928 T C 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.04533,C/0.9547;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:573:65.41:65.41:0.00:1.00:1.00:0.00:60:99.1:0:0:32:119:17:XR_158979.1(POTEKP) n.942-138T>C,XR_158979.1(POTEKP) n.942-138T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132361473 rs10496684 C T 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6062,T/0.3938;PC=0.030;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:12,9:408,287:0.00,26.76:0.00,26.76:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:83.8,120.7:0,0:0,0:33,44:117,107:21,11:-,XR_158979.1(POTEKP) n.942-118C>T:-,0.39:-,NOT_FOUND 2 132361518 rs6757779 G A 166 nt VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.02017,A/0.9798;PC=0.070;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A:45:42:0:0:45:1450:166.46:148.77:17.68:1.00:1.00:1.00:60:84.5:0:0:38:113:31:XR_158979.1(POTEKP) n.942-73G>A,XR_158979.1(POTEKP) n.942-73G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132361543 rs6717542 A G 235 nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.04533,G/0.9547;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:G:63:58:0:0:63:2054:235.27:187.27:48.00:1.00:1.00:1.00:60:69.5:0:0:33:117:20:XR_158979.1(POTEKP) n.942-48A>G,XR_158979.1(POTEKP) n.942-48A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132361854 rs10153598 G A 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.04533,A/0.9547;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:400:46.14:0.00:46.14:1.00:0.00:1.00:60:49.5:0:0:125:25:18:XR_158979.1(POTEKP) n.1012+193G>A,XR_158979.1(POTEKP) n.1012+193G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132361923 rs10153600 G C 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.04533,C/0.9547;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:175:20.35:0.00:20.35:1.00:0.00:1.00:60:69.3:0:0:83:67:27:XR_158979.1(POTEKP) n.1012+262G>C,XR_158979.1(POTEKP) n.1012+262G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132366923 rs1979998 G T 307 nt VT=SNV;PN=T;NN=A;SST=Single;DP=203;DB;DBA=NA;PAF=G/0.4249,T/0.5751;PC=0.002;Gene=POTEKP/NR_033885.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:203:170:0:0:1,102,100:9,3372,3197:-0.18,0.00,306.62:-0.11,0.00,196.74:-0.07,0.00,109.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:92.0,29.9,65.0:0,0,0:0,0,0:123,47,52:27,101,96:0,27,27:-,XR_158979.1(POTEKP) n.1013-32G>T:-,0.56:-,NOT_FOUND 2 132366994 rs1979997 A G 911 nt VT=SNV;PN=A;NN=G;SST=Single;DP=246;DB;DBA=NA;PAF=A/0.02037,G/0.9796;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:246:155:0:0:246:7941:910.97:425.75:485.22:1.00:1.00:1.00:60:49.0:0:0:87:60:26:XR_158979.1(POTEKP) n.1052A>G,XR_158979.1(POTEKP) n.1052A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 132367062 rs551221522 G GT 312 idl,rn VT=INS;SST=Single;DP=163;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1121;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:157:62:103:1:58,1,97,1:1908,34,3291,32:0.00,1.51,311.63,1.32:0.00,-0.06,52.13,0.68:0.00,1.57,259.50,0.64:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:47.2,89.0,32.3,12.0:4,1,6,0:0,0,0,0:136,31,97,63:11,120,54,87:8,0,28,0:-,XR_158979.1(POTEKP) n.1083+37_1083+38insT:-,NOT_FOUND:-,NOT_FOUND 2 132368575 rs201482472 T TTTAA 32 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.02077,TTAA/.,TTTAA/0.9792;DB;DBA=NA;PAF=NA;NP=176;PC=0.367;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:TTTAA:9:9:9:0:9:274:31.69:31.69:0.00:1.00:1.00:0.00:60:8.1:0:0:59:91:19:XR_158979.1(POTEKP) n.1084-131_1084-130insTTAA,XR_158979.1(POTEKP) n.1084-131_1084-130insTTAA:0.94,0.94:NOT_FOUND,NOT_FOUND 2 132368971 rs13024022 C T 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3994,T/0.6006;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:22:19:0:0:13,1,8:374,5,257:0.00,-0.16,23.46:0.00,-0.12,20.91:0.00,-0.04,2.55:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.76:60,60,60:14.4,130.0,41.2:0,0,0:0,0,0:65,59,53:69,92,96:30,0,32:-,XR_158979.1(POTEKP) n.1129-127C>T:-,0.6:-,NOT_FOUND 2 132369178 rs6752868 T C 716 nt VT=SNV;PN=A;NN=G;SST=Single;DP=195;DB;DBA=NA;PAF=T/0.05551,C/0.9445 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:195:163:0:0:1,193,1:13,6273,31:0.10,716.38,0.00:-0.00,481.48,0.00:0.11,234.90,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:55,60,40:13.0,38.8,36.0:0,0,0:0,0,0:38,54,47:113,93,72:0,32,0:XR_158979.1(POTEKP) n.1209T>C,XR_158979.1(POTEKP) n.1209T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 132369332 rs6743830 C T 460 nt VT=SNV;PN=C;NN=A;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.01997,T/0.98 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:130:37:0:0:130:3981:459.64:82.56:377.08:1.00:1.00:1.00:60:45.5:0:0:100:45:34:XR_158979.1(POTEKP) n.1313+50C>T,XR_158979.1(POTEKP) n.1313+50C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 132369440 rs10754930 A C 175 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.04313,C/0.9569 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:0:0:0:51:1512:175.38:0.00:175.38:1.00:0.00:1.00:60:81.8:0:0:115:36:24:XR_158979.1(POTEKP) n.1313+158A>C,XR_158979.1(POTEKP) n.1313+158A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132369476 rs10754931 A G 109 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.04413,G/0.9559 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:0:0:0:28:961:109.45:0.00:109.45:1.00:0.00:1.00:60:76.4:0:0:112:38:27:XR_158979.1(POTEKP) n.1313+194A>G,XR_158979.1(POTEKP) n.1313+194A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 132369587 rs10754932 T G 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.04353,G/0.9565;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:170:19.38:0.00:19.38:1.00:0.00:1.00:60:52.6:0:0:102:48:19:XR_158979.1(POTEKP) n.1313+305T>G,XR_158979.1(POTEKP) n.1313+305T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 132381343 rs3969195 C T 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6288,T/0.3712 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:8,8:249,280:0.00,27.00:0.00,27.00:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.9,44.0:0,0:0,0:41,44:109,102:13,14:-,XR_158979.1(POTEKP) n.1314-203C>T:-,0.38:-,NOT_FOUND 2 132381482 rs1828294 T G 98 nt VT=SNV;PN=A;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.6969,G/0.3031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:68:63:0:0:32,36:1029,1141:97.71,0.00:74.47,0.00:23.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.8,8.4:0,0:0,0:33,43:117,102:26,23:XR_158979.1(POTEKP) n.1314-64T>G,-:0.32,-:NOT_FOUND,- 2 132381804 rs56236195 C T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.609,T/0.391 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:1:0:0:12,10:345,325:0.00,30.69:0.00,3.63:0.00,27.06:0.00,1.00:0.00,0.64:0.00,1.00:60,60:3.8,75.1:0,0:0,0:111,103:39,47:24,16:-,XR_158979.1(POTEKP) n.1446+127C>T:-,0.37:-,NOT_FOUND 2 132381821 rs55988855 G T 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4139,T/0.5861 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:3:0:0:12,10:372,319:0.00,30.09:0.00,2.91:0.00,27.18:0.00,1.00:0.00,0.85:0.00,1.00:60,60:3.2,75.1:0,0:0,0:101,120:50,30:36,16:-,XR_158979.1(POTEKP) n.1446+144G>T:-,0.57:-,NOT_FOUND 2 132384137 rs9287537 A C 513 nt VT=SNV;PN=T;NN=T;SST=Single;DP=301;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:301:190:0:0:142,159:4440,5278:0.00,513.32:0.00,226.20:0.00,287.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,41.5:0,0:0,0:74,77:71,69:33,37:-,XR_158979.1(POTEKP) n.2073A>C:-,0.32:-,0.232151 2 132384339 rs13011244 C T 260 nt VT=SNV;PN=G;NN=G;SST=Single;DP=231;DB;DBA=NA;PAF=C/0.4161,T/0.5839;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:231:155:0:0:135,3,93:4214,30,2821:0.00,-0.37,259.57:0.00,-0.03,132.02:0.00,-0.34,127.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.6,103.7,66.8:0,0,0:0,0,0:66,52,61:77,99,86:36,4,38:-,XR_158979.1(POTEKP) n.2275C>T:-,0.59:-,0.665791 2 132384381 rs12991373 G A 308 nt VT=SNV;PN=C;NN=A;SST=Single;DP=240;DB;DBA=NA;PAF=G/0.6086,A/0.3914;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:240:168:0:0:102,1,137:3304,10,4274:308.29,-0.20,0.00:194.63,-0.13,0.00:113.65,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:62.9,29.0,8.9:0,0,0:0,0,0:71,56,68:79,95,83:35,0,35:XR_158979.1(POTEKP) n.2317G>A,-:0.39,-:0.399693,- 2 132384588 rs13011674 C G 381 nt VT=SNV;PN=C;NN=T;SST=Single;DP=317;DB;DBA=NA;PAF=C/0.6094,G/0.3906;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:317:222:0:0:1,182,134:11,5905,4114:-0.20,0.00,381.43:-0.14,0.00,204.04:-0.06,0.00,177.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:122.0,31.5,60.8:0,0,0:0,0,0:50,62,62:101,86,86:0,30,35:-,XR_158979.1(POTEKP) n.2524C>G:-,0.39:-,0.399474 2 132384682 rs12692060 T C 1165 nt VT=SNV;PN=A;NN=T;SST=Single;DP=318;DB;DBA=NA;PAF=T/0.02077,C/0.9792;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:318:216:0:0:1,316,1:11,10166,11:0.04,1164.63,0.00:0.00,669.62,0.00:0.04,495.01,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,53:46.0,73.5,131.0:0,0,0:0,0,0:95,79,115:56,69,34:0,38,0:XR_158979.1(POTEKP) n.2618T>C,XR_158979.1(POTEKP) n.2618T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 132384683 rs12692061 T G 1150 nt VT=SNV;PN=T;NN=A;SST=Single;DP=315;DB;DBA=NA;PAF=T/0.01997,G/0.98;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:315:215:0:0:313,2:10053,25:1150.13,0.00:607.40,0.00:542.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.0,89.5:0,0:0,0:67,96:82,52:34,45:XR_158979.1(POTEKP) n.2619T>G,XR_158979.1(POTEKP) n.2619T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 132385017 rs12615400 C T 100 nt VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.6975,T/0.3025;PC=0.961 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:72:2:0:0:38,1,33:1078,12,1056:0.00,-0.02,100.07:0.00,-0.01,1.45:0.00,-0.02,98.62:0.00,0.00,1.00:0.00,0.00,0.76:0.00,0.00,1.00:60,60,60:20.8,149.0,45.1:0,0,0:0,0,0:119,121,97:32,30,46:26,0,20:-,XR_158979.1(POTEKP) n.2953C>T:-,0.32:-,NOT_FOUND 2 132480648 rs4091446 T C 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6416,C/0.3584;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+427T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:4:0:0:3,1:99,32:10.35,0.00:10.35,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:89.3,11.0:0,0:0,0:62,56:89,95:4,0:NM_013310.3(C2orf27A) c.-248+427T>C,-:0.35,-:NOT_FOUND,- 2 132480986 rs62163367 C T 163 nt VT=SNV;PN=C;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.727,T/0.273;PC=0.989;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+765C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:131:98:0:0:78,53:2618,1759:0.00,162.75:0.00,83.83:0.00,78.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,37.1:0,0:0,0:56,71:89,73:28,34:-,NM_013310.3(C2orf27A) c.-248+765C>T:-,0.3:-,NOT_FOUND 2 132481142 rs60152467 G GGTC 100 nt VT=INS;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.7394,GGTC/0.2606;NP=2;PC=0.999;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+921_-248+922insGTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGTC:85:51:34:0:51,34:1598,1084:0.00,99.82:0.00,51.99:0.00,47.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,112.0:0,0:0,0:106,81:45,68:34,29:-,NM_013310.3(C2orf27A) c.-248+921_-248+922insGTC:-,0.24:-,NOT_FOUND 2 132481145 rs57215614 G C 115 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.7392,C/0.2608;NP=3;PC=0.894;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+924G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:73:45:0:0:36,37:1199,1184:115.12,0.00:59.69,0.00:55.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:113.0,12.3:35,0:0,0:81,80:69,70:30,37:NM_013310.3(C2orf27A) c.-248+924G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 132481152 rs6708827 A T 113 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.6076,T/0.3924;PC=1.000;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+931A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:74:46:0:0:38,36:1234,1183:0.00,113.19:0.00,58.48:0.00,54.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.3,112.1:0,0:0,0:79,94:72,55:39,29:-,NM_013310.3(C2orf27A) c.-248+931A>T:-,0.34:-,NOT_FOUND 2 132481153 rs6712022 T C 120 nt VT=SNV;PN=A;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=T/0.6078,C/0.3922;PC=1.000;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+932T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:46:0:0:36,37:1249,1157:120.13,0.00:60.84,0.00:59.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:112.1,14.7:0,0:0,0:95,80:54,71:29,37:NM_013310.3(C2orf27A) c.-248+932T>C,-:0.34,-:NOT_FOUND,- 2 132481245 rs12469944 T G 206 nt VT=SNV;PN=T;NN=A;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.6076,G/0.3924;PC=0.424;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+1024T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:114:84:0:0:64,50:2090,1475:205.65,0.00:137.98,0.00:67.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.7,13.1:0,0:0,0:65,46:85,99:32,31:NM_013310.3(C2orf27A) c.-248+1024T>G,-:0.38,-:NOT_FOUND,- 2 132481426 rs13412067 G C 187 nt VT=SNV;PN=G;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.6114,C/0.3886;PC=1.000;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+1205G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:103:52:0:0:56,47:1907,1496:186.56,0.00:70.86,0.00:115.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.5,22.0:0,0:0,0:75,96:74,55:30,28:NM_013310.3(C2orf27A) c.-248+1205G>C,-:0.38,-:NOT_FOUND,- 2 132481470 rs13387430 C T 148 nt VT=SNV;PN=G;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.608,T/0.392;PC=0.558;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+1249C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:82:41:0:0:33,1,48:1063,10,1494:0.00,-0.05,148.48:0.00,0.04,56.64:0.00,-0.09,91.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,64:44.7,205.0,66.7:0,0,0:0,0,0:87,119,93:64,20,56:39,0,24:-,NM_013310.3(C2orf27A) c.-248+1249C>T:-,0.38:-,NOT_FOUND 2 132481491 rs113888504 AG A 144 nt VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=AG/0.6364,A/0.3636;NP=1983;PC=0.995;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+1273delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:79:36:0:46:33,46:1078,1458:0.00,144.43:0.00,52.45:0.00,91.98:0.00,1.00:0.00,1.00:0.00,1.00:60,64:53.5,55.9:1,0:0,0:70,93:80,57:42,33:-,NM_013310.3(C2orf27A) c.-248+1271delG:-,0.36:-,NOT_FOUND 2 132481526 rs62163368 C A 78 nt VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.7248,A/0.2752;PC=0.689;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+1305C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:68:34:0:0:28,40:844,1238:77.76,0.00:32.21,0.00:45.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,64:66.6,40.4:0,0:0,0:91,73:59,76:34,38:NM_013310.3(C2orf27A) c.-248+1305C>A,-:0.3,-:NOT_FOUND,- 2 132481529 rs62163369 C T 74 nt VT=SNV;PN=A;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.7248,T/0.2752;PC=0.975;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+1308C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:36:0:0:41,27:1290,813:0.00,74.30:0.00,32.85:0.00,41.45:0.00,1.00:0.00,1.00:0.00,1.00:64,60:41.9,67.2:0,0:0,0:81,84:70,67:45,28:-,NM_013310.3(C2orf27A) c.-248+1308C>T:-,0.3:-,NOT_FOUND 2 132485596 rs6710987 C T 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.6148,T/0.3852;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+5375C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,T:15:12:0:0:5,10:160,297:0.00,30.30:0.00,25.90:0.00,4.40:0.00,1.00:0.00,1.00:0.00,0.99:60,60:24.0,33.1:0,0:0,0:35,50:116,100:23,44:-,NM_013310.3(C2orf27A) c.-248+5375C>T:-,0.37:-,NOT_FOUND 2 132485666 rs11689272 T C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7574,C/0.2426;PC=0.996;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+5445T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:C,T:15:11:0:0:5,10:161,309:14.34,0.00:8.14,0.00:6.21,0.00:0.89,0.00:0.98,0.00:0.64,0.00:60,56:32.2,23.1:0,0:0,0:29,75:122,73:24,19:NM_013310.3(C2orf27A) c.-248+5445T>C,-:0.26,-:NOT_FOUND,- 2 132491401 rs139255301 T G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=679;PC=0.711;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+11180T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:G,T:38:33:0:0:4,34:140,1026:10.36,0.00:4.75,0.00:5.61,0.00:0.60,0.00:0.92,0.00:0.72,0.00:58,60:114.0,14.8:0,0:0,0:56,39:87,106:11,20:NM_013310.3(C2orf27A) c.-248+11180T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 132491447 . A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=50;NP=6;PC=0.998;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+11226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,C,G:50:40:0:0:45,1,4:1444,10,135:0.00,-0.21,9.40:0.00,-0.05,4.54:0.00,-0.16,4.86:0.00,0.00,0.55:0.00,0.00,0.89:0.00,0.00,0.81:60,43,58:18.8,49.0,115.8:0,0,0:0,0,0:52,73,98:92,77,41:29,0,11:-,NM_013310.3(C2orf27A) c.-248+11226A>G:-,NOT_FOUND:-,NOT_FOUND 2 132491544 rs7599401 C G 178 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.02616,G/0.9738;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+11323C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:G:47:28:0:0:47:1556:177.98:76.74:101.24:1.00:1.00:1.00:60:37.1:0:0:87:50:21:NM_013310.3(C2orf27A) c.-248+11323C>G,NM_013310.3(C2orf27A) c.-248+11323C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132491708 rs10191790 G T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5443,T/0.4557;PC=0.004;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+11487G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:G,T:10:0:0:0:5,5:151,163:0.00,15.68:0.00,0.00:0.00,15.68:0.00,0.95:0.00,0.00:0.00,0.95:60,60:11.6,59.0:0,0:0,0:111,131:40,17:20,10:-,NM_013310.3(C2orf27A) c.-248+11487G>T:-,0.43:-,NOT_FOUND 2 132494171 rs4850247 G A 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.5485,A/0.4515;PC=1.000;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+13950G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:25:0:0:15,14:437,496:42.06,0.00:23.05,0.00:19.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,58:43.9,50.1:0,0:0,0:76,53:72,94:35,11:NM_013310.3(C2orf27A) c.-248+13950G>A,-:0.42,-:NOT_FOUND,- 2 132494182 rs11690978 G C 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7448,C/0.2552;PC=1.000;Gene=C2orf27A/NM_013310.3/1;CC=c.-248+13961G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:27:0:0:16,17:556,525:53.32,0.00:35.72,0.00:17.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.6,46.8:0,0:0,0:61,57:83,85:26,44:NM_013310.3(C2orf27A) c.-248+13961G>C,-:0.28,-:NOT_FOUND,- 2 132494272 rs4850248 A G 81 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.02656,G/0.9734;Gene=C2orf27A/NM_013310.3/1;CC=c.-247-13934A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:11:0:0:21:708:80.82:32.40:48.41:1.00:1.00:1.00:60:61.8:0:0:98:53:20:NM_013310.3(C2orf27A) c.-247-13934A>G,NM_013310.3(C2orf27A) c.-247-13934A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 132508152 rs1821705 A G 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.61,G/0.39;Gene=C2orf27A/NM_013310.3/1;CC=c.-247-54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:6:6:0:0:4,2:131,72:0.00,6.50:0.00,6.67:0.00,-0.18:0.00,0.42:0.00,0.42:0.00,0.63:60,60:0.0,36.0:0,0:0,0:32,81:118,69:26,14:-,NM_013310.3(C2orf27A) c.-247-54A>G:-,0.4:-,NOT_FOUND 2 132509159 . G . . NT END=132524191;NT GT ./. 2 132524776 . C . . NT END=132552735;NT GT ./. 2 132552288 rs4531972 A G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=23;PC=0.051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:5:0:0:2,3:70,107:0.00,10.67:0.00,10.87:0.00,-0.20:0.00,0.78:0.00,0.78:0.00,0.73:60,33:6.5,57.3:0,0:0,0:43,87:108,62:26,5:-,chr2 g.132552287A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132552311 rs201353380 GA G 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.097;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:GA,G:5:5:0:3:2,3:68,87:0.00,8.67:0.00,8.87:0.00,-0.20:0.00,0.78:0.00,0.78:0.00,0.73:55,33:9.5,57.3:0,0:0,0:103,110:48,39:11,5:-,chr2 g.132552312delA (intergenic):-,0.02:-,NOT_FOUND 2 132552714 rs1056223 G A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=398;PC=0.042;Gene=C2orf27B/NM_214461.2/1;CC=c.*22C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,G:9:0:0:0:5,4:147,122:14.38,0.00:0.00,0.00:14.38,0.00:0.96,0.00:0.00,0.00:0.96,0.00:40,40:72.4,5.0:0,0:0,0:80,59:70,92:41,28:NM_214461.1(C2orf27B) c.=,-:NOT_FOUND,-:NOT_FOUND,- 2 132552735 rs200892484 G A 15 lc VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=289;PC=0.036;Gene=C2orf27B/NM_214461.2/1;CC=c.*1C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:10:0:0:0:5,5:153,169:14.67,0.00:0.00,0.00:14.67,0.00:0.95,0.00:0.00,0.00:0.95,0.00:40,40:72.4,4.0:0,0:0,0:101,64:49,87:41,32:NM_214461.1(C2orf27B) c.=,-:NOT_FOUND,-:NOT_FOUND,- 2 132553320 . C . . NT END=132558464;NT GT ./. 2 132558511 . G . . NT END=132795055;NT GT ./. 2 132591648 rs6429982 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.604,T/0.396 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:42.8:0:0:95:55:20:chr2 g.132591647C>T (intergenic),chr2 g.132591647C>T (intergenic):0.38,0.38:NOT_FOUND,NOT_FOUND 2 132591808 rs55998054 T G 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.7873,G/0.2127;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:47:42:0:0:1,24,22:11,736,741:0.03,71.19,0.00:0.10,54.14,0.00:-0.07,17.05,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:57,60,60:57.0,44.1,2.5:0,0,0:0,0,0:52,45,54:99,101,84:0,26,30:chr2 g.132591807T>G (intergenic),-:0.22,-:NOT_FOUND,- 2 132592178 rs9751367 T C 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4445,C/0.5555 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:26:0:0:24,18:779,516:76.89,0.00:43.01,0.00:33.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,13.5:0,0:0,0:73,28:76,119:43,21:chr2 g.132592177T>C (intergenic),-:0.46,-:NOT_FOUND,- 2 132592403 rs9711401 T C 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2129,C/0.7871 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C,G:31:10:0:0:30,1:921,11:105.97,0.32:18.81,0.00:87.16,0.32:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,95.0:0,0:0,0:116,113:35,38:20,0:chr2 g.132592402T>C (intergenic),chr2 g.132592402T>C (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 2 132593402 rs61555136 C T 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.7304,T/0.2696;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:21:0:0:24,16:747,542:0.00,50.18:0.00,18.00:0.00,32.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,38.9:0,0:0,0:72,90:68,58:21,22:-,chr2 g.132593401C>T (intergenic):-,0.26:-,NOT_FOUND 2 132593519 rs9751462 A G 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4281,G/0.5719;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:6:0:0:7,10:241,327:0.00,32.47:0.00,12.14:0.00,20.33:0.00,1.00:0.00,0.99:0.00,1.00:60,60:1.1,56.1:0,0:0,0:126,93:24,56:16,25:-,chr2 g.132593518A>G (intergenic):-,0.53:-,NOT_FOUND 2 132593636 rs59199382 C T 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6216,T/0.3784 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:37:30:0:0:15,1,21:504,13,602:0.00,0.22,59.51:0.00,-0.15,33.14:0.00,0.38,26.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,60:11.5,46.0,46.9:0,0,0:0,0,0:59,20,66:92,131,84:27,0,24:-,chr2 g.132593635C>T (intergenic):-,0.36:-,NOT_FOUND 2 132763485 rs1849615 T C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4688,C/0.5312;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:4:0:0:3,1:96,35:10.05,0.00:6.90,0.00:3.15,0.00:0.85,0.00:0.85,0.00:0.99,0.00:54,60:60.7,13.0:0,0:0,0:52,33:78,87:19,0:chr2 g.132763484T>C (intergenic),-:0.5,-:NOT_FOUND,- 2 132771265 . C T 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:4:0:0:2,2:70,66:0.00,6.35:0.00,3.02:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.89:51,43:50.5,33.0:0,0:0,0:94,48:49,74:25,9:-,chr2 g.132771264C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132771425 rs59678916 A T 13 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9209,T/0.07907;PC=0.490 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:115:13.41:1.94:11.47:1.00:1.00:1.00:60:37.0:0:0:36:114:7:chr2 g.132771424A>T (intergenic),chr2 g.132771424A>T (intergenic):0.05,0.05:NOT_FOUND,NOT_FOUND 2 132787231 rs70997939 C CCACACA 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6098,CCACA/0.3902,CCACACA/.,CCCCC/.;DB;DBA=NA;PAF=C/0.6098,CCACA/0.3902,CCACACA/.;NP=25;NP=5;NP=79;PC=0.017;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CCACACA:5:4:2:0:3,2:64,68:0.00,6.31:0.00,5.00:0.00,1.31:0.00,0.46:0.00,0.87:0.00,0.87:60,60:26.3,0.0:0,0:0,0:94,85:55,61:17,13:-,chr2 g.132787231_132787232insCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132795089 . G . . NT END=132795366;NT GT ./. 2 132795460 rs1996144 T G 205 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=140;DB;DBA=NA;PAF=T/0.1434,G/0.8566;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:140:103:0:0:67,73:2153,2231:205.16,0.00:102.63,0.00:102.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,13.9:0,0:0,0:71,67:68,71:37,33:chr2 g.132795459T>G (intergenic),-:0.75,-:NOT_FOUND,- 2 132795567 rs115052456 C G 201 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=C/0.9549,G/0.04513;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:153:96:0:0:1,81,71:20,2449,2125:0.24,0.00,200.68:0.36,0.00,90.00:-0.12,0.00,110.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:69.0,9.8,53.9:0,0,0:0,0,0:48,77,52:103,69,85:0,40,37:-,chr2 g.132795566C>G (intergenic):-,0.06:-,NOT_FOUND 2 132795761 . G . . NT END=132796016;NT GT ./. 2 132795969 . CGGCAAAAAGCCGCGGCGGCGGG C 247 nt VT=DEL;SST=Single;DP=278;NP=28;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CGGCAAAAAGCCGCGGCGGCGGG,G,I,C:278:237:1:95:1,181,3,1,92:13,5422,34,33,2785:-0.23,0.00,-0.41,1.08,246.68:-0.13,0.00,-0.46,1.18,158.74:-0.10,0.00,0.05,-0.10,87.94:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,36,60:58.0,43.3,102.3,33.0,14.0:0,11,0,0,0:0,0,0,0,0:147,66,54,90,64:4,69,97,32,79:0,45,32,0,25:-,chr2 g.132795970_132795991delGGCAAAAAGCCGCGGCGGCGGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132796301 rs13425649 G A 549 lc VT=SNV;PN=C;NN=G;SST=Single;DP=409;DB;DBA=NA;PAF=G/0.9383,A/0.0617,C/.;NP=3;NP=81;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:409:228:0:1:186,1,221,1:5824,13,6282,10:549.45,-0.15,0.00,-0.17:198.65,-0.03,0.00,-0.08:350.80,-0.11,0.00,-0.09:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:59.8,106.0,39.4,84.0:0,0,0,0:0,0,0,0:96,125,81,78:47,26,55,37:31,0,35,0:chr2 g.132796300G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132796321 . a . . NT END=133066881;NT GT ./. 2 132860647 rs62164214 C T 50 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.6202,T/0.3798 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:105:95:0:0:1,84,20:14,2486,626:-0.13,0.00,50.06:-0.29,0.00,50.33:0.16,0.00,-0.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:52,60,50:67.0,10.9,57.5:0,0,0:0,0,0:2,33,8:148,117,142:0,23,7:-,chr2 g.132860646C>T (intergenic):-,0.21:-,NOT_FOUND 2 132860781 rs200449203 C A 93 nt VT=SNV;PN=T;NN=C;SST=Single;DP=277;DB;DBA=NA;PAF=NA;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:277:211:0:0:39,238:1228,7737:92.64,0.00:51.87,0.00:40.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:154.4,43.4:0,0:0,0:95,80:37,65:23,29:chr2 g.132860780C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132860793 . A C 84 nt VT=SNV;PN=A;NN=T;SST=Single;DP=262 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:262:189:0:0:226,36:7019,1120:0.00,83.79:0.00,46.83:0.00,36.96:0.00,1.00:0.00,1.00:0.00,1.00:60,51:45.4,180.4:0,0:0,0:85,101:61,49:28,20:-,chr2 g.132860792A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132860794 rs149354523 T C 242 nt VT=SNV;PN=A;NN=G;SST=Single;DP=262;DB;DBA=NA;PAF=NA;NP=277 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:262:188:0:0:2,88,172:27,2724,5449:-0.23,242.09,0.00:-0.19,125.03,0.00:-0.04,117.06,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,53,60:100.0,164.9,15.2:0,0,0:0,0,0:50,94,78:100,53,69:48,24,30:chr2 g.132860793T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132860798 rs199817260 C T 250 nt VT=SNV;PN=A;NN=A;SST=Single;DP=254;DB;DBA=NA;PAF=NA;NP=151;PC=0.968 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:254:176:0:0:1,165,88:10,5428,2787:-0.24,0.00,249.68:-0.11,0.00,116.05:-0.14,0.00,133.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,60,53:118.0,14.5,172.2:0,0,0:0,0,0:99,79,97:51,70,52:0,31,27:-,chr2 g.132860797C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132860815 rs201711198 T C 207 nt VT=SNV;PN=C;NN=G;SST=Single;DP=248;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:248:159:0:0:2,80,1,165:22,2362,11,5510:-0.37,207.09,-0.23,0.00:-0.17,82.17,-0.14,0.00:-0.19,124.92,-0.09,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:51,53,40,60:142.0,185.7,154.0,14.6:0,0,0,0:0,0,0,0:97,104,69,89:53,42,82,58:16,21,0,29:chr2 g.132860814T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132860826 rs141976433 T C 224 nt VT=SNV;PN=T;NN=C;SST=Single;DP=240;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:240:147:0:0:1,81,1,157:9,2517,13,4762:-0.24,224.09,-0.18,0.00:-0.09,93.43,-0.12,0.00:-0.15,130.66,-0.06,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:3,53,16,60:22.0,184.5,188.0,10.6:0,0,0,0:0,0,0,0:104,108,113,88:47,43,38,59:0,24,0,33:chr2 g.132860825T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132860852 . G A 161 nt VT=SNV;PN=A;NN=C;SST=Single;DP=208 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:208:103:0:0:60,147,1:1865,4880,8:161.04,0.00,-0.29:45.95,0.00,-0.10:115.09,0.00,-0.19:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:53,51,27:202.7,15.3,202.0:0,0,0:0,0,0:107,92,92:43,58,58:32,32,0:chr2 g.132860851G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132860858 . A G 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=206 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G,T:206:94:0:0:188,17,1:5869,578,8:0.00,40.48,-0.38:0.00,10.21,-0.11:0.00,30.27,-0.27:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:53,51,40:54.2,221.5,158.0:0,0,0:0,0,0:97,57,94:52,94,56:34,29,0:-,chr2 g.132860857A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132860859 rs367956297 A T 160 nt VT=SNV;PN=A;NN=G;SST=Single;DP=207;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:207:92:0:0:149,58:4946,1856:0.00,159.96:0.00,40.49:0.00,119.47:0.00,1.00:0.00,1.00:0.00,1.00:50,53:16.5,208.0:0,0:0,0:87,91:61,59:35,34:-,chr2 g.132860858A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132860908 rs200767086 C T 56 nt VT=SNV;PN=A;NN=C;SST=Single;DP=173;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:173:67:0:0:3,147,23:48,4462,742:0.81,0.00,55.96:1.38,0.00,8.68:-0.57,0.00,47.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,50,40:117.0,36.3,188.3:0,0,0:0,0,0:104,79,109:46,69,42:2,37,24:-,chr2 g.132860907C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132860931 rs201565924 G A 112 nt VT=SNV;PN=G;NN=T;SST=Single;DP=169;DB;DBA=NA;PAF=NA;NP=61;PC=0.085 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:169:70:0:0:42,127:1333,3977:112.21,0.00:34.33,0.00:77.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,43:158.7,15.4:0,0:0,0:100,69:50,82:36,40:chr2 g.132860930G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132860955 rs199885777 G T 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,C,G,T:156:76:0:0:2,2,139,13:20,27,4365,374:-0.53,-0.16,0.00,24.51:-0.37,-0.27,0.00,5.63:-0.16,0.12,0.00,18.88:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:40,43,43,40:101.5,76.5,28.0,139.7:0,0,0,0:0,0,0,0:56,54,73,76:95,97,72,49:27,6,35,40:-,chr2 g.132860954G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132860970 . T C 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=155;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,C,T:155:83:0:0:5,17,133:106,447,4143:4.21,30.33,0.00:-0.54,20.47,0.00:4.75,9.86,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:42,40,43:92.4,109.7,23.3:0,0,0:0,0,0:89,88,69:46,53,81:42,19,37:chr2 g.132860969T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861067 rs372713886 G A 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=175;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:175:112:0:0:20,152,3:610,4609,78:43.89,0.00,2.87:14.29,0.00,1.05:29.60,0.00,1.82:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,52,44:192.3,13.4,204.7:0,0,0:0,0,0:25,64,31:113,82,119:17,35,25:chr2 g.132861066G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861088 rs201818909 T C 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=169;DB;DBA=NA;PAF=NA;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:169:109:0:0:22,147:635,4675:45.83,0.00:15.17,0.00:30.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,55:191.2,16.7:0,0:0,0:38,75:101,75:15,33:chr2 g.132861087T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861111 rs200192867 A G 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:163:94:0:0:140,23:4666,697:0.00,51.99:0.00,10.01:0.00,41.98:0.00,1.00:0.00,1.00:0.00,1.00:60,43:17.0,177.3:0,0:0,0:75,59:70,82:31,19:-,chr2 g.132861110A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861114 rs200768521 A G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:161:92:0:0:136,25:4500,701:0.00,52.04:0.00,9.81:0.00,42.23:0.00,1.00:0.00,1.00:0.00,1.00:60,43:14.6,166.4:0,0:0,0:79,62:66,79:30,29:-,chr2 g.132861113A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861139 rs201754957 G A 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=151;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:151:77:0:0:28,1,122:859,10,4028:67.99,-0.30,0.00:24.64,-0.06,0.00:43.35,-0.24,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:43,24,60:156.4,154.0,14.8:0,0,0:0,0,0:80,22,93:61,103,56:22,0,23:chr2 g.132861138G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861198 . T G 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=102 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:102:34:0:0:19,83:615,2694:49.30,0.00:19.00,0.00:30.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:36,60:118.2,18.1:0,0:0,0:91,102:56,44:24,35:chr2 g.132861197T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861220 . T TAA 29 nt VT=INS;SST=Single;DP=85;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TAA:85:23:18:0:1,66,18:34,2138,395:1.62,0.00,29.18:-0.07,0.00,11.36:1.68,0.00,17.82:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:1,60,27:174.0,20.9,109.2:0,0,0:0,0,0:0,97,100:151,54,50:0,31,16:-,chr2 g.132861220_132861221insAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861264 rs202243583 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.972 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:20:0:0:54,10:1717,317:0.00,24.44:0.00,9.75:0.00,14.69:0.00,0.99:0.00,0.92:0.00,1.00:52,27:25.1,146.9:0,0:0,0:100,61:42,88:33,33:-,chr2 g.132861263A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861270 rs111281634 G T 39 nt VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:65:19:0:0:50,15:1554,474:0.00,39.33:0.00,19.69:0.00,19.64:0.00,1.00:0.00,0.98:0.00,1.00:60,27:15.6,152.3:0,0:0,0:99,67:43,83:36,24:-,chr2 g.132861269G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861299 rs201527570 T C 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=9;PC=0.680 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:17:0:0:14,38:447,1022:38.29,0.00:13.48,0.00:24.80,0.00:1.00,0.00:0.99,0.00:1.00,0.00:40,60:165.0,20.1:0,0:0,0:84,58:62,89:12,38:chr2 g.132861298T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861306 rs202082230 A G 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:17:0:0:39,13:1142,458:0.00,39.33:0.00,14.16:0.00,25.17:0.00,1.00:0.00,0.98:0.00,1.00:60,27:22.1,170.2:0,0:0,0:66,89:80,56:38,14:-,chr2 g.132861305A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861355 rs202202532 A C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:38:16:0:0:29,8,1:885,265,11:0.00,21.93,-0.06:0.00,12.63,0.17:0.00,9.31,-0.22:0.00,0.97,0.00:0.00,0.95,0.00:0.00,0.99,0.00:60,27,42:22.0,189.1,20.0:0,0,0:0,0,0:80,124,97:69,26,15:23,9,0:-,chr2 g.132861354A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861373 rs199866325 G C 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:A,C,G:39:17:0:0:2,8,29:20,234,981:0.08,18.83,0.00:-0.23,13.60,0.00:0.31,5.23,0.00:0.00,0.97,0.00:0.00,0.95,0.00:0.00,0.99,0.00:41,27,60:136.0,192.4,14.5:0,0,0:0,0,0:52,120,98:92,27,52:26,27,28:chr2 g.132861372G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861385 rs201039613 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:33:14:0:0:4,29:135,902:10.12,0.00:8.45,0.00:1.67,0.00:0.62,0.00:0.75,0.00:0.87,0.00:25,60:199.2,22.1:0,0:0,0:42,107:108,44:17,23:chr2 g.132861384T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861386 rs202108919 A G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C,G:32:14:0:0:27,1,4:852,11,128:0.00,-0.06,9.53:0.00,-0.13,7.47:0.00,0.07,2.06:0.00,0.00,0.63:0.00,0.00,0.77:0.00,0.00,0.87:60,24,25:18.3,149.0,199.2:0,0,0:0,0,0:108,39,43:43,99,107:23,0,17:-,chr2 g.132861385A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861398 rs200299698 G A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,G:32:14:0:0:6,26:190,774:15.17,0.00:8.39,0.00:6.77,0.00:0.89,0.00:0.90,0.00:0.96,0.00:25,60:155.8,25.4:0,0:0,0:38,105:112,45:31,30:chr2 g.132861397G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861460 rs201243227 T G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=122 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:41:20:0:0:12,29:386,901:33.56,0.00:11.81,0.00:21.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,51:94.5,19.5:0,0:0,0:50,61:100,89:34,32:chr2 g.132861459T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861547 rs199587914 T A 8 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:A,T:52:34:0:0:5,47:129,1438:8.26,0.00:-0.71,0.00:8.96,0.00:0.72,0.00:0.90,0.00:0.80,0.00:42,42:80.2,21.6:0,0:0,0:68,80:83,71:61,46:chr2 g.132861546T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861599 rs62164215 G T 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=283;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:51:35:0:0:37,14:1218,404:0.00,34.06:0.00,17.52:0.00,16.53:0.00,1.00:0.00,1.00:0.00,1.00:42,41:8.1,90.4:0,0:0,0:55,56:96,88:22,33:-,chr2 g.132861598G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132861606 rs201513828 G A 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=292 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:52:36:0:0:13,2,37:405,37,1156:34.27,1.44,0.00:17.72,1.34,0.00:16.55,0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:42,42,42:89.3,66.5,7.3:0,0,0:0,0,0:66,101,61:85,50,89:33,38,26:chr2 g.132861605G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861700 rs75693475 G C 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=584 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:70:45:0:0:16,54:545,1651:45.81,0.00:20.27,0.00:25.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:53,52:95.6,7.7:0,0:0,0:75,76:65,74:23,26:chr2 g.132861699G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861737 rs72483724 G A 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=667;PC=0.707 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:39:0:0:13,55:425,1791:34.30,0.00:8.02,0.00:26.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,56:124.5,5.2:0,0:0,0:88,64:63,86:29,50:chr2 g.132861736G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132861786 rs74206111 C A 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=267 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:A,C:70:41:0:0:9,61:291,1943:21.74,0.00:2.56,0.00:19.18,0.00:0.97,0.00:0.98,0.00:0.99,0.00:51,56:138.8,6.0:0,0:0,0:114,57:36,93:23,35:chr2 g.132861785C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132890521 . T C 12 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;PC=0.959 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,T:22:21:0:0:4,18:144,600:11.78,0.00:9.05,0.00:2.73,0.00:0.70,0.00:0.96,0.00:0.90,0.00:19,60:241.2,20.9:0,0:0,0:32,41:113,107:9,19:chr2 g.132890520T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132890526 . C T 11 mq,nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:22:20:0:0:18,4:617,135:0.00,10.88:0.00,8.48:0.00,2.40:0.00,0.70:0.00,0.95:0.00,0.93:60,19:22.2,241.2:0,0:0,0:45,37:104,108:18,9:-,chr2 g.132890525C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132890529 . C T 11 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:22:20:0:0:18,4:610,136:0.00,10.98:0.00,8.53:0.00,2.45:0.00,0.70:0.00,0.95:0.00,0.94:60,19:17.3,241.2:0,0:0,0:49,40:94,105:20,9:-,chr2 g.132890528C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132890532 . T A 10 sb;mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;PC=0.908 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,T:22:20:0:0:4,18:124,602:9.78,0.00:7.98,0.00:1.80,0.00:0.70,0.00:0.95,0.00:0.94,0.00:19,60:234.5,22.6:0,0:0,0:43,52:102,98:8,18:chr2 g.132890531T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132890576 rs200180234 T C 11 mq,nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=60;PC=0.080 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:24:15:0:0:4,20:139,642:11.12,0.00:5.79,0.00:5.33,0.00:0.68,0.00:0.88,0.00:0.95,0.00:19,60:206.0,23.0:0,0:0,0:78,91:67,57:9,24:chr2 g.132890575T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 132890599 rs200511169 G T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=1;NP=36;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:G,T:26:13:0:0:21,5:714,144:0.00,11.28:0.00,5.00:0.00,6.27:0.00,0.82:0.00,0.89:0.00,0.98:60,31:19.2,162.4:0,0:0,0:88,100:51,51:22,20:-,chr2 g.132890598G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132890614 rs62165765 A G 49 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1976;PC=0.746 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:10:0:0:9,14:279,490:0.00,48.99:0.00,14.08:0.00,34.91:0.00,1.00:0.00,1.00:0.00,1.00:60,49:0.2,82.3:0,0:0,0:88,114:61,36:20,16:-,chr2 g.132890613A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 132905500 rs3114236 C T 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3181,T/0.6819;PC=0.721;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:254:29.21:29.21:0.00:1.00:1.00:0.00:40:63.5:0:0:47:103:38:NR_027019.1(ANKRD30BL) n.1391G>A,NR_027019.1(ANKRD30BL) n.1391G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 132905579 rs202079970 G T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=9;PC=0.054;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:G,T:22:22:0:0:17,5:561,169:0.00,14.17:0.00,14.17:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:43,40:16.0,166.8:0,0:0,0:45,50:106,101:36,12:-,NR_027019.1(ANKRD30BL) n.1312C>A:-,NOT_FOUND:-,NOT_FOUND 2 132905601 rs199926148 T C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;PC=0.066;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:28:0:0:8,20:282,588:24.75,0.00:24.75,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:40,43:194.2,14.4:0,0:0,0:46,34:104,116:29,17:NR_027019.1(ANKRD30BL) n.1290A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 132905626 rs200465566 A G 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1;PC=0.093;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:36:0:0:27,10:906,317:0.00,27.09:0.00,20.65:0.00,6.45:0.00,1.00:0.00,1.00:0.00,0.72:50,40:10.0,204.0:0,0:0,0:47,50:103,100:28,34:-,NR_027019.1(ANKRD30BL) n.1265T>C:-,NOT_FOUND:-,NOT_FOUND 2 132905664 rs201427646 G T 78 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.605;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:59:57:0:0:33,26:1067,829:0.00,77.70:0.00,55.77:0.00,21.93:0.00,1.00:0.00,1.00:0.00,1.00:56,52:7.8,216.6:0,0:0,0:57,24:94,125:34,13:-,NR_027019.1(ANKRD30BL) n.1227C>A:-,NOT_FOUND:-,NOT_FOUND 2 132905682 rs199535616 T C 102 nt VT=SNV;PN=T;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=0.444;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:75:69:0:0:1,32,42:22,1092,1325:0.61,102.48,0.00:-0.20,70.14,0.00:0.81,32.33,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:27,54,56:262.0,227.6,10.0:0,0,0:0,0,0:0,34,40:151,113,106:0,13,28:NR_027019.1(ANKRD30BL) n.1209A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 132905693 rs150889759 T C 106 nt VT=SNV;PN=A;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.119;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:79:69:0:0:33,46:1136,1484:106.05,0.00:68.01,0.00:38.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:228.2,9.1:0,0:0,0:42,50:103,98:15,35:NR_027019.1(ANKRD30BL) n.1198A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 132905703 rs144342094 C G 112 nt VT=SNV;PN=T;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=0.086;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:90:77:0:0:55,35:1820,1217:0.00,112.28:0.00,62.93:0.00,49.35:0.00,1.00:0.00,1.00:0.00,1.00:60,54:8.0,222.0:0,0:0,0:37,48:99,96:30,15:-,NR_027019.1(ANKRD30BL) n.1188G>C:-,NOT_FOUND:-,NOT_FOUND 2 132905706 rs142209162 A G 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=0.072;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:95:81:0:0:59,36:1838,1240:0.00,113.84:0.00,64.63:0.00,49.21:0.00,1.00:0.00,1.00:0.00,1.00:60,54:8.1,222.4:0,0:0,0:38,52:113,91:28,16:-,NR_027019.1(ANKRD30BL) n.1185T>C:-,NOT_FOUND:-,NOT_FOUND 2 132905741 rs111770980 G A 108 nt VT=SNV;PN=C;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=455;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:104:80:0:0:35,68,1:1202,2164,13:108.27,0.00,-0.10:48.78,0.00,0.03:59.49,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:54,60,43:216.1,8.4,217.0:0,0,0:0,0,0:85,43,111:60,102,38:16,26,0:NR_027019.1(ANKRD30BL) n.1150C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 132905792 rs189049364 G C 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=NA;NP=129;PC=0.200;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:98:57:0:0:25,73:821,2493:69.86,0.00:29.13,0.00:40.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,60:213.7,7.6:0,0:0,0:117,84:25,63:21,26:NR_027019.1(ANKRD30BL) n.1099C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 132905814 rs28482039 G C 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=NA;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:86:41:0:0:18,68:597,2308:49.14,0.00:7.50,0.00:41.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:200.6,7.6:0,0:0,0:116,91:34,51:23,25:NR_027019.1(ANKRD30BL) n.1090-13C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 132905819 . T A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;PC=0.001;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:81:33:0:0:16,65:551,2148:45.27,0.00:4.54,0.00:40.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:41,60:190.2,6.0:0,0:0,0:114,104:35,46:20,22:NR_027019.1(ANKRD30BL) n.1090-18A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 132905864 rs200430576 C A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=3;PC=0.893;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,C:46:11:0:0:8,38:253,1234:19.89,0.00:-0.58,0.00:20.47,0.00:0.97,0.00:0.82,0.00:1.00,0.00:36,60:134.6,6.3:0,0:0,0:119,111:30,38:26,16:NR_027019.1(ANKRD30BL) n.1090-63G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 132911479 rs10928265 A C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7596,C/0.2404;PC=0.048;Gene=ANKRD30BL/NR_027019.1/0;VC=NonCoding;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:144:16.31:0.00:16.31:1.00:0.00:1.00:50:36.0:0:0:87:63:13:NR_027019.1(ANKRD30BL) n.862-212T>G,NR_027019.1(ANKRD30BL) n.862-212T>G:0.23,0.23:NOT_FOUND,NOT_FOUND 2 132997398 rs62166213 T G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=18;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:140:15.91:11.88:4.03:1.00:1.00:1.00:52:241.5:0:0:62:58:9:NR_027020.2(ANKRD30BL) n.441+17704A>C,NR_027020.2(ANKRD30BL) n.441+17704A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 132997413 rs144463633 A T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=41;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,T:4:4:0:0:1,3:34,107:0.00,11.15:0.00,7.25:0.00,3.90:0.00,0.85:0.00,0.85:0.00,0.95:1,54:264.0,243.7:0,0:0,0:53,81:98,42:0,7:-,NR_027020.2(ANKRD30BL) n.441+17689T>A:-,NOT_FOUND:-,NOT_FOUND 2 132997430 rs62166214 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;Gene=ANKRD30BL/NR_027020.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:129:14.81:10.83:3.98:1.00:1.00:1.00:54:248.8:0:0:94:26:9:NR_027020.2(ANKRD30BL) n.441+17672T>C,NR_027020.2(ANKRD30BL) n.441+17672T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133018563 . A T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;NP=3;PC=0.174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,T:19:19:0:0:16,3:515,100:0.00,7.83:0.00,7.83:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,43:59.7,124.0:0,0:0,0:27,11:122,117:15,2:-,NR_031608.1(MIR663B) n.-3910T>A:-,NOT_FOUND:-,NOT_FOUND 2 133018582 rs148995384 T TTAAAC 40 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.120;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTAAAC:21:21:14:0:7,14:223,392:0.00,39.93:0.00,39.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:23.7,104.6:0,0:0,0:56,36:95,105:11,13:-,NR_031608.1(MIR663B) n.-3930_-3929insGTTTA:-,NOT_FOUND:-,NOT_FOUND 2 133018624 rs76843584 A G 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=7;PC=0.713 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:39:39:0:0:22,16,1:741,511,11:0.00,47.50,0.02:0.00,47.50,0.02:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,39:62.7,199.0,171.0:0,0,0:0,0,0:83,31,6:65,120,127:24,21,0:-,NR_031608.1(MIR663B) n.-3971T>C:-,NOT_FOUND:-,NOT_FOUND 2 133018644 rs62165047 C G 146 nt VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.947 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:55:55:0:0:12,43:413,1382:0.00,146.13:0.00,146.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.5,181.8:0,0:0,0:76,39:74,109:40,31:-,NR_031608.1(MIR663B) n.-3991G>C:-,NOT_FOUND:-,NOT_FOUND 2 133018662 rs78279116 G A 84 nt VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=2;PC=0.809 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:66:0:0:29,37:903,1179:84.49,0.00:84.49,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:206.8,102.1:0,0:0,0:40,55:111,92:21,42:NR_031608.1(MIR663B) n.-4009C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018665 rs62165048 G A 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=10;PC=0.859 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:65:0:0:20,45:615,1441:53.60,0.00:53.60,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:179.4,139.4:0,0:0,0:40,46:96,101:26,29:NR_031608.1(MIR663B) n.-4012C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018677 rs78871213 G A 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:70:0:0:29,41:961,1187:89.36,0.00:89.36,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:208.1,113.5:0,0:0,0:51,39:100,98:21,30:NR_031608.1(MIR663B) n.-4024C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018681 rs62165049 C A 65 nt VT=SNV;PN=G;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=4;PC=0.073 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:69:69:0:0:24,45:725,1523:64.55,0.00:64.55,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:185.3,136.4:0,0:0,0:44,54:100,96:32,26:NR_031608.1(MIR663B) n.-4028G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018682 rs77442456 C T 88 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=C/0.9958,T/0.004193;NP=1;PC=0.054 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:70:70:0:0:40,1,29:1295,10,941:0.00,-0.11,87.51:0.00,-0.11,87.51:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,6,60:107.9,236.0,208.1:19,1,29:0,0,0:43,59,56:106,86,95:30,0,21:-,NR_031608.1(MIR663B) n.-4029G>A:-,NOT_FOUND:-,NOT_FOUND 2 133018686 rs377171892 AT A 147 nt VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:67:68:0:49:19,48:583,1446:0.00,146.58:0.00,146.58:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:25.9,208.9:0,1:0,0:48,50:80,96:31,20:-,NR_031608.1(MIR663B) n.-4034delA:-,NOT_FOUND:-,NOT_FOUND 2 133018688 rs143856956 T C 82 nt VT=SNV;PN=T;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:67:67:0:1:28,2,37:883,59,1137:82.32,3.34,0.00:82.32,3.34,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,50,60:206.2,144.5,118.9:0,0,2:0,0,0:60,146,39:90,4,106:23,3,22:NR_031608.1(MIR663B) n.-4035A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133018691 rs62165050 C G 167 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:76:75:0:2:22,54:717,1615:0.00,167.26:0.00,165.44:0.00,1.82:0.00,1.00:0.00,1.00:0.00,0.81:60,60:65.3,199.7:0,49:0,0:31,53:113,92:19,23:-,NR_031608.1(MIR663B) n.-4038G>C:-,NOT_FOUND:-,NOT_FOUND 2 133018708 . G A 129 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=125;NP=1;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:125:122:0:0:45,80:1434,2281:129.49,0.00:122.06,0.00:7.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:130.6,150.2:36,21:0,0:33,56:93,88:14,25:NR_031608.1(MIR663B) n.-4055C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018709 rs147114119 GGGT G 39 nt VT=DEL;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGT,G:131:127:0:20:111,20:3485,536:0.00,38.96:0.00,34.13:0.00,4.82:0.00,1.00:0.00,1.00:0.00,0.93:60,60:133.9,195.8:79,0:0,0:41,59:92,84:21,17:-,NR_031608.1(MIR663B) n.-4059_-4057delACC:-,NOT_FOUND:-,NOT_FOUND 2 133018712 rs113918656 TGG T 95 idl,nt VT=DEL;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=8;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,TGG,T:102:99:0:61:2,3,61,36:25,37,1358,1067:0.11,0.39,0.00,94.51:-0.30,-0.48,0.00,89.87:0.41,0.87,0.00,4.64:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:108.0,105.3,144.0,117.9:0,0,46,1:0,0,0,0:48,11,55,41:94,140,93,87:45,7,30,10:-,NR_031608.1(MIR663B) n.-4061_-4060delCC:-,NOT_FOUND:-,NOT_FOUND 2 133018713 rs66735050 GGT G 95 idl,nt VT=DEL;SST=Single;DP=91;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGT,G:91:88:0:79:53,38:1578,1038:0.00,94.70:0.00,92.54:0.00,2.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:134.9,179.4:31,0:0,0:52,56:89,92:23,29:-,NR_031608.1(MIR663B) n.-4062_-4061delAC:-,NOT_FOUND:-,NOT_FOUND 2 133018714 rs398104721 GT G 16 idl,nt VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:GT,T,G:56:53:0:88:47,1,8:1280,34,214:0.00,1.77,15.52:0.00,0.76,12.25:0.00,1.01,3.27:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.86:60,54,52:123.7,104.0,217.9:23,0,0:0,0,0:61,0,23:86,103,121:23,0,7:-,NR_031608.1(MIR663B) n.-4062delA:-,NOT_FOUND:-,NOT_FOUND 2 133018765 rs200747231 C T 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=199;DB;DBA=NA;PAF=NA;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:C,G,T:199:164:0:0:179,1,19:5736,10,634:0.00,-0.34,45.31:0.00,-0.18,29.41:0.00,-0.15,15.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,58,52:126.6,100.0,223.1:0,0,0:0,0,0:76,93,50:57,27,92:24,0,21:-,NR_031608.1(MIR663B) n.-4112G>A:-,NOT_FOUND:-,NOT_FOUND 2 133018770 rs62165051 T C 610 nt VT=SNV;PN=G;NN=T;SST=Single;DP=198;DB;DBA=NA;PAF=NA;NP=2447;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:198:162:0:0:167,2,29:5659,19,908:609.63,0.05,0.00:385.58,0.01,0.00:224.04,0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,58,60:160.7,89.5,19.9:0,0,0:0,0,0:76,86,59:59,36,90:25,12,26:NR_031608.1(MIR663B) n.-4117A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133018779 . C A 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=199;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:199:161:0:0:30,169:946,5471:72.32,0.00:41.89,0.00:30.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:221.5,123.1:0,0:0,0:98,76:43,63:24,27:NR_031608.1(MIR663B) n.-4126G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018781 . C T 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=197;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:197:157:0:0:170,27:5252,919:0.00,70.66:0.00,39.46:0.00,31.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:123.1,213.8:0,0:0,0:78,102:62,41:26,26:-,NR_031608.1(MIR663B) n.-4128G>A:-,NOT_FOUND:-,NOT_FOUND 2 133018785 rs62165052 T C 573 nt VT=SNV;PN=C;NN=A;SST=Single;DP=195;DB;DBA=NA;PAF=NA;NP=2765;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:195:153:0:0:1,163,1,30:13,5312,6,1007:0.04,572.53,-0.05,0.00:0.07,336.38,-0.02,0.00:-0.03,236.15,-0.03,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,58,60:153.0,160.2,100.0,13.3:0,0,0,0:0,0,0,0:132,79,113,75:17,59,7,70:0,28,0,25:NR_031608.1(MIR663B) n.-4132A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133018824 rs62165053 T C 194 nt VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=NA;NP=109;NP=1167;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:171:99:0:0:25,66,80:854,2065,2593:70.97,193.74,0.00:26.03,100.06,0.00:44.95,93.69,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,57,60:200.7,167.8,99.2:0,0,0:0,0,0:109,108,106:40,39,43:33,24,19:NR_031608.1(MIR663B) n.-4171A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133018827 rs201266536 G A 112 nt VT=SNV;PN=A;NN=A;SST=Single;DP=168;DB;DBA=NA;PAF=NA;NP=1048;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:168:99:0:0:43,124,1:1328,4130,7:111.96,0.00,-0.30:40.98,0.00,-0.15:70.98,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,24:138.6,140.6,185.0:0,0,0:0,0,0:109,103,108:41,44,43:16,30,0:NR_031608.1(MIR663B) n.-4174C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018848 rs111909919 C T 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=NA;NP=1563;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:137:80:0:0:104,33:3318,1083:0.00,91.21:0.00,46.09:0.00,45.12:0.00,1.00:0.00,1.00:0.00,1.00:60,57:139.4,145.4:0,0:0,0:111,92:33,58:26,39:-,NR_031608.1(MIR663B) n.-4195G>A:-,NOT_FOUND:-,NOT_FOUND 2 133018849 rs112058313 G A 242 nt VT=SNV;PN=C;NN=C;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.9972,A/.,T/0.002796;NP=2572;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:139:81:0:0:80,59:2452,1935:242.11,0.00:106.08,0.00:136.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:180.7,92.6:0,0:0,0:114,99:32,51:24,33:NR_031608.1(MIR663B) n.-4196C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018854 . T C 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=131;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:131:73:0:0:19,112:642,3479:49.73,0.00:29.95,0.00:19.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:215.1,129.0:0,0:0,0:95,112:47,33:32,25:NR_031608.1(MIR663B) n.-4201A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133018881 . T A 70 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=86;NP=9;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:86:45:0:0:25,1,60:806,22,1920:70.18,0.51,0.00:30.70,0.70,0.00:39.48,-0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,21,60:222.8,296.0,123.5:8,0,0:0,0,0:106,2,84:36,148,66:18,0,35:NR_031608.1(MIR663B) n.-4228A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018883 . GT G 15 nt VT=DEL;SST=Single;DP=88;PC=1.000;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GT,G:88:43:0:8:80,8:2573,232:0.00,15.40:0.00,5.03:0.00,10.37:0.00,0.93:0.00,0.94:0.00,0.99:60,60:145.9,225.4:0,0:0,0:97,102:52,39:35,16:-,NR_031608.1(MIR663B) n.-4231delA:-,NOT_FOUND:-,NOT_FOUND 2 133018891 rs62165057 A T 135 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=1222;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:86:42:0:0:43,43:1432,1405:0.00,135.11:0.00,60.82:0.00,74.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:99.4,203.1:0,0:0,0:82,100:69,44:46,32:-,NR_031608.1(MIR663B) n.-4238T>A:-,NOT_FOUND:-,NOT_FOUND 2 133018898 . C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=85;PC=0.873 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:85:41:0:0:77,8:2512,220:0.00,14.44:0.00,3.57:0.00,10.87:0.00,0.93:0.00,0.94:0.00,0.98:60,60:135.9,225.4:0,0:0,0:71,116:80,25:43,16:-,NR_031608.1(MIR663B) n.-4245G>A:-,NOT_FOUND:-,NOT_FOUND 2 133018915 . G A 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=79;NP=696;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:79:37:0:0:23,2,53,1:712,22,1632,9:61.93,-0.04,0.00,-0.20:22.66,-0.24,0.00,-0.12:39.28,0.20,0.00,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,57:160.7,76.5,144.7,115.0:0,0,0,0:0,0,0,0:88,51,60,32:63,98,84,119:29,25,39,0:NR_031608.1(MIR663B) n.-4262C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018925 . T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=81;NP=1;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:C,T:81:41:0:0:8,73:231,2243:15.65,0.00:4.81,0.00:10.83,0.00:0.93,0.00:0.95,0.00:0.98,0.00:55,60:223.4,136.3:0,0:0,0:57,69:65,82:14,36:NR_031608.1(MIR663B) n.-4272A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133018929 rs111556001 A G 215 nt VT=SNV;PN=A;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=3049;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:79:38:0:0:15,63,1:430,2015,10:0.00,214.89,0.04:0.00,86.94,-0.05:0.00,127.95,0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,58:16.3,171.4,105.0:0,0,0:0,0,0:40,71,74:110,76,76:36,32,0:-,NR_031608.1(MIR663B) n.-4276T>C:-,NOT_FOUND:-,NOT_FOUND 2 133018930 rs148952121 C A 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=2447;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:79:38:0:0:23,56:739,1836:64.20,0.00:28.04,0.00:36.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:138.6,140.7:0,0:0,0:47,72:103,70:29,32:NR_031608.1(MIR663B) n.-4277G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133018944 rs113711072 A G 72 nt VT=SNV;PN=G;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=706;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:86:39:0:0:60,26:1828,824:0.00,71.93:0.00,25.12:0.00,46.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:127.7,154.5:0,0:0,0:66,74:82,75:33,40:-,NR_031608.1(MIR663B) n.-4291T>C:-,NOT_FOUND:-,NOT_FOUND 2 133018966 . C T 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=83;NP=12;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,C,T:83:42:0:0:1,74,8:8,2346,248:-0.32,0.00,17.39:-0.17,0.00,4.47:-0.14,0.00,12.92:0.00,0.00,0.93:0.00,0.00,0.94:0.00,0.00,0.98:57,60,52:137.0,123.1,239.4:0,0,0:0,0,0:84,75,72:66,73,64:0,34,26:-,NR_031608.1(MIR663B) n.-4313G>A:-,NOT_FOUND:-,NOT_FOUND 2 133018967 rs75244748 A G 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=1;NP=2833;PC=0.896 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:43:0:0:40,44:1253,1383:0.00,133.84:0.00,43.53:0.00,90.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:86.3,180.0:0,0:0,0:59,92:82,52:25,21:-,NR_031608.1(MIR663B) n.-4314T>C:-,NOT_FOUND:-,NOT_FOUND 2 133018973 . C A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=84;NP=58;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,C:84:43:0:0:8,76:241,2553:16.50,0.00:3.70,0.00:12.80,0.00:0.93,0.00:0.95,0.00:0.98,0.00:42,60:181.2,130.4:0,0:0,0:107,69:39,74:17,30:NR_031608.1(MIR663B) n.-4320G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019006 rs4018092 T C 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=278;PC=0.972 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:90:46:0:0:20,2,68:659,38,2132:54.96,1.00,0.00:13.64,0.93,0.00:41.33,0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,43,60:218.6,215.5,87.8:0,0,0:0,0,0:120,28,80:22,114,70:23,15,37:NR_031608.1(MIR663B) n.-4353A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019016 rs10153756 T G 196 nt VT=SNV;PN=T;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=3472;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:84:48:0:0:59,25:1902,796:196.01,0.00:75.01,0.00:121.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:152.9,8.8:0,0:0,0:88,41:61,110:36,31:NR_031608.1(MIR663B) n.-4363A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019039 rs77439077 T C 12 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=1;PC=0.815 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,C,T:76:50:0:0:1,8,67:11,192,2107:-0.22,12.24,0.00:-0.24,1.32,0.00:0.02,10.92,0.00:0.00,0.94,0.00:0.00,0.98,0.00:0.00,0.94,0.00:60,40,60:40.0,235.1,93.1:0,0,0:0,0,0:104,77,77:47,72,73:0,19,37:NR_031608.1(MIR663B) n.-4386A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019052 rs4018091 C A 112 nt VT=SNV;PN=T;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=3316;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:80:52:0:0:38,42:1181,1383:112.20,0.00:71.92,0.00:40.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:163.5,51.7:0,0:0,0:80,72:70,78:47,29:NR_031608.1(MIR663B) n.-4399G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019058 . C T 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=78;NP=17;NP=3;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T:78:51:0:0:69,9:2299,250:0.00,17.31:0.00,7.86:0.00,9.45:0.00,0.97:0.00,0.99:0.00,0.96:60,40:84.3,227.2:0,0:0,0:76,91:75,58:47,24:-,NR_031608.1(MIR663B) n.-4405G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019092 rs4018090 G A 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=1355;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:76:48:0:0:24,50,2:758,1529,33:67.01,0.00,0.83:41.01,0.00,-0.03:25.99,0.00,0.86:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,43:123.0,79.3,190.5:0,0,0:0,0,0:50,86,75:100,63,68:22,33,54:NR_031608.1(MIR663B) n.-4439C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019098 rs7349290 G C 111 nt VT=SNV;PN=T;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=2366;PC=0.975 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:74:49:0:0:36,38:1164,1200:111.28,0.00:72.78,0.00:38.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:151.5,31.3:0,0:0,0:58,88:90,61:23,36:NR_031608.1(MIR663B) n.-4445C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019125 rs4018089 T G 80 nt VT=SNV;PN=G;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=3422;NP=37;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,G,T:81:55:0:0:24,27,30:716,854,872:65.80,80.12,0.00:29.04,53.25,0.00:36.76,26.87,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:114.2,151.7,9.7:0,0,0:0,0,0:72,67,60:78,84,91:21,44,50:NR_031608.1(MIR663B) n.-4472A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019148 rs4018088 T C 24 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=2;NP=7;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:C,G,T:91:66:0:0:10,1,80:331,11,2546:24.24,-0.25,0.00:25.86,-0.23,0.00:-1.62,-0.02,0.00:0.98,0.00,0.00:1.00,0.00,0.00:0.96,0.00,0.00:52,5,60:217.8,164.0,73.8:0,0,0:0,0,0:27,77,55:123,74,96:20,0,38:NR_031608.1(MIR663B) n.-4495A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019171 rs4018087 T C 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=146;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,T:100:67:0:0:8,92:258,2823:17.63,0.00:12.57,0.00:5.06,0.00:0.92,0.00:0.98,0.00:0.55,0.00:51,60:180.1,98.2:0,0:0,0:38,54:112,93:18,30:NR_031608.1(MIR663B) n.-4518A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019172 rs74886509 T G 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=47;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:100:66:0:0:25,75:820,2277:69.56,0.00:55.68,0.00:13.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:224.4,64.9:0,0:0,0:29,69:121,81:17,37:NR_031608.1(MIR663B) n.-4519A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019176 . A G 34 nt VT=SNV;PN=C;NN=A;SST=Single;DP=102;NP=10;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:102:67:0:0:88,14:2854,449:0.00,33.87:0.00,20.07:0.00,13.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:93.0,200.9:0,0:0,0:59,49:89,102:31,22:-,NR_031608.1(MIR663B) n.-4523T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019181 . A T 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=103;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:103:67:0:0:88,1,14:2889,5,456:0.00,-0.36,34.58:0.00,-0.19,26.85:0.00,-0.17,7.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,5,60:81.3,164.0,251.1:0,0,0:0,0,0:64,110,22:84,41,128:27,0,9:-,NR_031608.1(MIR663B) n.-4528T>A:-,NOT_FOUND:-,NOT_FOUND 2 133019183 rs201585807 C G 85 nt VT=SNV;PN=G;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=1;NP=8;NP=887;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:104:67:0:0:1,73,29,1:10,2261,979,34:-0.22,0.00,85.32,1.57:-0.05,0.00,59.62,-0.15:-0.17,0.00,25.71,1.71:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,21:107.0,57.6,225.9,273.0:0,0,0,0:0,0,0,0:44,81,30,56:106,69,120,95:0,39,17,0:-,NR_031608.1(MIR663B) n.-4530G>C:-,NOT_FOUND:-,NOT_FOUND 2 133019191 rs10153762 T G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=NA;NP=3391;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:G,T:110:71:0:0:9,101:273,3153:18.15,0.00:8.21,0.00:9.94,0.00:0.95,0.00:0.98,0.00:0.98,0.00:60,60:85.1,109.9:0,0:0,0:97,59:54,90:49,29:NR_031608.1(MIR663B) n.-4538A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019195 rs112067573 T G 60 nt VT=SNV;PN=A;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=NA;NP=79;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:111:71:0:0:22,89:731,2807:59.63,0.00:44.42,0.00:15.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:235.6,79.3:0,0:0,0:28,66:121,84:14,32:NR_031608.1(MIR663B) n.-4542A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019216 rs4018086 C T 178 nt VT=SNV;PN=T;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=3167;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:124:79:0:0:66,58:1927,1875:0.00,178.14:0.00,100.93:0.00,77.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.5,195.4:0,0:0,0:80,37:65,111:36,24:-,NR_031608.1(MIR663B) n.-4563G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019261 rs142731717 A G 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=2248;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:126:77:0:0:106,20:3469,656:0.00,51.22:0.00,17.30:0.00,33.91:0.00,1.00:0.00,1.00:0.00,1.00:60,58:120.2,169.1:0,0:0,0:78,71:67,76:34,18:-,NR_031608.1(MIR663B) n.-4608T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019271 rs77018858 A G 81 nt VT=SNV;PN=C;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=3234;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:126:74:0:0:96,30:3072,971:0.00,81.40:0.00,37.37:0.00,44.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:130.0,136.3:1,0:0,0:82,79:60,70:25,37:-,NR_031608.1(MIR663B) n.-4618T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019273 rs377659375 A G 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=129;DB;DBA=NA;PAF=NA;NP=23;NP=62;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,C,G:129:74:0:0:115,1,13:3782,10,407:0.00,-0.32,28.77:0.00,-0.18,12.90:0.00,-0.14,15.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:117.7,54.0,251.9:1,0,0:0,0,0:81,108,82:68,43,55:31,0,30:-,NR_031608.1(MIR663B) n.-4620T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019276 rs201920504 T G 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=NA;NP=541;PC=0.460 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:130:74:0:0:24,106:769,3483:61.36,0.00:27.84,0.00:33.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:217.4,111.2:0,2:0,0:69,91:78,52:21,32:NR_031608.1(MIR663B) n.-4623A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019278 rs112926423 C T 163 nt VT=SNV;PN=T;NN=A;SST=Single;DP=131;DB;DBA=NA;PAF=NA;NP=2340;PC=0.982 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:131:73:0:1:76,55:2455,1755:0.00,163.03:0.00,67.62:0.00,95.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:71.1,205.4:0,0:0,0:78,86:64,60:39,19:-,NR_031608.1(MIR663B) n.-4625G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019279 rs200662082 A T 93 nt VT=SNV;PN=C;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=1095;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:128:71:0:1:94,34:2944,1093:0.00,93.37:0.00,47.32:0.00,46.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:91.7,228.5:0,0:0,0:87,75:62,69:33,23:-,NR_031608.1(MIR663B) n.-4626T>A:-,NOT_FOUND:-,NOT_FOUND 2 133019291 rs75871437 C A 74 nt VT=SNV;PN=G;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=NA;NP=3208;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:128:69:0:0:28,100:902,3341:74.38,0.00:32.55,0.00:41.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:140.1,127.8:0,0:0,0:99,85:51,61:37,28:NR_031608.1(MIR663B) n.-4638G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019314 rs78165606 C A 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=2027;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:127:68:0:0:27,100:844,3323:68.77,0.00:32.99,0.00:35.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:151.1,116.8:0,0:0,0:86,98:64,46:36,29:NR_031608.1(MIR663B) n.-4661G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019316 rs76480789 G A 163 nt VT=SNV;PN=A;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=808;PC=0.976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:127:70:0:0:55,72:1742,2397:162.71,0.00:75.22,0.00:87.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:193.6,71.7:0,0:0,0:109,75:37,76:20,42:NR_031608.1(MIR663B) n.-4663C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019322 rs10153835 G A 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G:121:66:0:0:13,108:428,3519:31.09,0.00:21.33,0.00:9.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.7,134.3:0,0:0,0:45,105:105,38:19,26:NR_031608.1(MIR663B) n.-4669C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019329 rs80194519 A G 85 nt VT=SNV;PN=A;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=NA;NP=250;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:70:0:0:87,31:2779,1001:0.00,85.39:0.00,47.46:0.00,37.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:95.8,222.7:0,0:0,0:86,114:64,31:42,14:-,NR_031608.1(MIR663B) n.-4676T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019360 rs7568802 T C 149 nt VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.8291,A/.,C/0.1709;NP=3107;PC=0.982 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:95:61:0:0:48,47:1544,1603:148.68,0.00:97.52,0.00:51.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:188.8,27.9:0,0:0,0:68,64:82,84:45,35:NR_031608.1(MIR663B) n.-4707A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019361 rs4018085 G A 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=1;NP=24;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,G,T:97:63:0:0:15,69,13:478,2238,439:37.81,0.00,34.46:22.18,0.00,19.31:15.64,0.00,15.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,55:204.7,57.7,264.0:0,0,0:0,0,0:73,59,122:78,92,17:27,36,23:NR_031608.1(MIR663B) n.-4708C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019366 rs78664511 C T 153 nt VT=SNV;PN=T;NN=A;SST=Single;DP=96;DB;DBA=NA;PAF=NA;NP=3035;PC=0.265 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:96:62:0:0:46,50:1520,1578:0.00,152.72:0.00,103.67:0.00,49.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.3,183.4:0,0:0,0:65,71:85,79:30,42:-,NR_031608.1(MIR663B) n.-4713G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019369 rs4018084 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:A,C,G:94:62:0:0:7,1,86:240,7,2652:16.56,-0.36,0.00:9.62,-0.25,0.00:6.94,-0.11,0.00:0.85,0.00,0.00:0.96,0.00,0.00:0.88,0.00,0.00:60,39,60:272.6,64.0,91.4:2,0,4:0,0,0:77,28,61:73,122,89:30,0,32:NR_031608.1(MIR663B) n.-4716C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019378 rs4018083 A C 41 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=0.040 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:90:64:0:7:73,17:2321,515:0.00,40.71:0.00,27.61:0.00,13.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.1,209.6:0,0:0,0:69,86:82,65:37,35:-,NR_031608.1(MIR663B) n.-4725T>G:-,NOT_FOUND:-,NOT_FOUND 2 133019432 rs140731905 C T 96 nt VT=SNV;PN=A;NN=T;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=1;NP=378;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:153:119:0:0:117,1,35:3869,9,1146:0.00,-0.30,95.70:0.00,-0.18,87.43:0.00,-0.12,8.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,40,40:62.2,101.0,210.7:0,0,0:0,0,0:60,57,44:87,93,106:33,0,21:-,NR_031608.1(MIR663B) n.-4779G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019451 rs144622803 C T 95 nt VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;NP=167;PC=0.986 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:167:129:0:0:1,130,36:10,4075,1150:-0.28,0.00,94.52:-0.16,0.00,86.25:-0.11,0.00,8.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:53,60,40:51.0,78.8,203.1:0,0,0:0,0,0:81,64,54:70,86,96:0,34,21:-,NR_031608.1(MIR663B) n.-4798G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019452 rs10153608 C A 84 nt VT=SNV;PN=C;NN=A;SST=Single;DP=169;DB;DBA=NA;PAF=NA;NP=2456;PC=0.985 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:169:131:0:0:31,138:1041,4513:83.93,0.00:61.27,0.00:22.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:112.6,107.6:0,0:0,0:54,62:96,88:33,30:NR_031608.1(MIR663B) n.-4799G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019464 . T C 128 nt VT=SNV;PN=A;NN=T;SST=Single;DP=174;NP=144;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:174:138:0:0:46,128:1493,4170:127.61,0.00:119.51,0.00:8.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:197.0,85.0:0,0:0,0:54,73:94,77:30,35:NR_031608.1(MIR663B) n.-4811A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019473 rs113783890 CT C 165 nt VT=DEL;SST=Single;DP=187;DB;DBA=NA;PAF=NA;NP=920;PC=0.999;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:187:149:0:76:111,76:3757,1846:0.00,164.83:0.00,156.58:0.00,8.25:0.00,1.00:0.00,1.00:0.00,1.00:60,40:81.5,169.9:0,0:0,0:82,52:68,99:35,31:-,NR_031608.1(MIR663B) n.-4821delA:-,NOT_FOUND:-,NOT_FOUND 2 133019489 rs10153767 T C 96 nt VT=SNV;PN=A;NN=A;SST=Single;DP=201;DB;DBA=NA;PAF=NA;NP=2464;PC=0.975 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:201:165:0:0:37,164:1201,5266:96.13,0.00:64.71,0.00:31.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:127.1,118.0:0,0:0,0:60,67:81,81:34,39:NR_031608.1(MIR663B) n.-4836A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019491 rs10174226 C T 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=201;DB;DBA=NA;PAF=C/0.9677,T/0.03235;NP=564;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:201:165:0:0:179,22:5940,701:0.00,50.58:0.00,36.82:0.00,13.75:0.00,1.00:0.00,1.00:0.00,0.99:60,60:115.2,142.4:0,0:0,0:66,64:82,77:38,28:-,NR_031608.1(MIR663B) n.-4838G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019493 rs78153741 C G 422 nt VT=SNV;PN=T;NN=T;SST=Single;DP=201;DB;DBA=NA;PAF=NA;NP=3321;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:201:165:0:0:77,124:2593,4210:0.00,422.07:0.00,344.89:0.00,77.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:69.1,148.8:0,0:0,0:73,62:74,86:41,36:-,NR_031608.1(MIR663B) n.-4840G>C:-,NOT_FOUND:-,NOT_FOUND 2 133019522 rs4018079 T A 360 nt VT=SNV;PN=T;NN=T;SST=Single;DP=232;DB;DBA=NA;PAF=NA;NP=1543;PC=0.975 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:232:190:0:0:118,114:3735,3687:359.87,0.00:298.94,0.00:60.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:59,60:160.3,73.9:0,0:0,0:56,70:95,74:35,40:NR_031608.1(MIR663B) n.-4869A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019556 rs57233869 T C 787 nt VT=SNV;PN=T;NN=G;SST=Single;DP=271;DB;DBA=NA;PAF=NA;NP=3457;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:271:199:0:0:227,44:7313,1435:786.95,0.00:492.52,0.00:294.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:135.1,8.0:0,0:0,0:55,46:93,102:32,26:NR_031608.1(MIR663B) n.-4903A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019572 rs61230157 G A 88 nt VT=SNV;PN=G;NN=A;SST=Single;DP=296;DB;DBA=NA;PAF=NA;NP=1910;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:296:216:0:0:38,1,257:1193,20,8231:88.35,-0.06,0.00:33.07,0.07,0.00:55.28,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,16,60:127.0,180.0,108.4:0,0,0:0,0,0:86,63,44:63,71,104:29,0,22:NR_031608.1(MIR663B) n.-4919C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019575 rs57066804 C T 91 nt VT=SNV;PN=C;NN=A;SST=Single;DP=300;DB;DBA=NA;PAF=NA;NP=2148;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:300:221:0:0:1,259,40:8,8374,1230:-0.32,0.00,91.22:-0.21,0.00,37.75:-0.11,0.00,53.48:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:38.0,108.5,126.8:0,0,0:0,0,0:32,46,89:119,103,60:0,23,29:-,NR_031608.1(MIR663B) n.-4922G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019578 rs112681737 C G 452 nt VT=SNV;PN=G;NN=A;SST=Single;DP=302;DB;DBA=NA;PAF=NA;NP=3474;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:302:222:0:0:157,145:5304,4740:0.00,452.38:0.00,285.98:0.00,166.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:95.8,130.1:0,0:0,0:66,49:84,100:30,27:-,NR_031608.1(MIR663B) n.-4925G>C:-,NOT_FOUND:-,NOT_FOUND 2 133019581 . C A 131 nt VT=SNV;PN=G;NN=T;SST=Single;DP=316;NP=1173;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:316:229:0:0:55,261:1681,8686:131.09,0.00:88.51,0.00:42.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:147.3,108.8:0,0:0,0:59,59:87,91:31,34:NR_031608.1(MIR663B) n.-4928G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019583 rs3208658 C T 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=320;DB;DBA=NA;PAF=NA;NP=2095;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:320:233:0:0:275,1,44:9172,36,1390:0.00,1.21,104.59:0.00,1.35,44.61:0.00,-0.14,59.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,9,60:113.6,246.0,108.2:0,0,0:0,0,0:51,82,63:97,69,83:31,0,31:-,NR_031608.1(MIR663B) n.-4930G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019594 rs4018098 A C 205 nt VT=SNV;PN=T;NN=A;SST=Single;DP=342;DB;DBA=NA;PAF=NA;NP=2854;PC=0.384 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:342:241:0:0:265,77:8287,2469:0.00,204.51:0.00,107.02:0.00,97.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:103.9,135.0:0,0:0,0:60,59:88,90:33,26:-,NR_031608.1(MIR663B) n.-4941T>G:-,NOT_FOUND:-,NOT_FOUND 2 133019603 . T C 73 nt VT=SNV;PN=G;NN=T;SST=Single;DP=359;NP=432;PC=0.983 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,C,T:359:248:0:0:1,31,327:13,1034,10174:-0.36,72.50,0.00:-0.16,51.06,0.00:-0.20,21.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,60,60:166.0,171.4,103.4:0,0,0:0,0,0:148,59,59:3,92,87:0,23,31:NR_031608.1(MIR663B) n.-4950A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019636 rs77304763 T C 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=375;DB;DBA=NA;PAF=NA;NP=1867;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:375:226:0:0:1,36,338:21,1102,11343:-0.11,76.24,0.00:-0.20,38.60,0.00:0.09,37.64,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:29,60,60:186.0,156.1,102.8:0,0,0:0,0,0:66,70,83:85,78,64:0,29,32:NR_031608.1(MIR663B) n.-4983A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019671 rs147919300 C T 132 nt VT=SNV;PN=A;NN=A;SST=Single;DP=347;DB;DBA=NA;PAF=NA;NP=1662;PC=0.979 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:347:183:0:0:290,1,56:9657,13,1714:0.00,-0.31,131.81:0.00,-0.08,48.09:0.00,-0.23,83.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:112.1,164.0,169.7:0,0,0:0,0,0:87,138,92:59,13,53:31,0,30:-,NR_031608.1(MIR663B) n.-5018G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019685 rs77017670 G A 316 nt VT=SNV;PN=T;NN=A;SST=Single;DP=311;DB;DBA=NA;PAF=NA;NP=3133;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:311:158:0:0:112,1,198:3510,10,6622:316.33,-0.23,0.00:105.28,-0.10,0.00:211.05,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,58,60:161.3,202.0,111.4:0,0,0:0,0,0:96,80,96:50,66,52:24,0,30:NR_031608.1(MIR663B) n.-5032C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019687 rs535462 T G 119 nt VT=SNV;PN=A;NN=G;SST=Single;DP=308;DB;DBA=NA;PAF=NA;NP=157;NP=702;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:308:155:0:0:25,46,237:776,1517,7674:53.82,119.05,0.00:18.55,39.72,0.00:35.27,79.33,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:181.6,184.0,117.4:0,0,0:0,0,0:94,101,92:54,48,55:19,29,30:NR_031608.1(MIR663B) n.-5034A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019700 rs113801665 G A 280 nt VT=SNV;PN=C;NN=G;SST=Single;DP=280;DB;DBA=NA;PAF=NA;NP=225;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:280:127:0:0:96,1,182,1:3122,14,5566,14:280.25,-0.21,0.00,-0.21:89.07,-0.10,0.00,0.00:191.18,-0.10,0.00,-0.21:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,58,60,60:176.7,202.0,118.3,134.0:0,0,0,0:0,0,0,0:106,95,90,147:42,51,59,4:21,0,32,0:NR_031608.1(MIR663B) n.-5047C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019703 rs62165963 T G 663 nt VT=SNV;PN=A;NN=C;SST=Single;DP=275;DB;DBA=NA;PAF=NA;NP=3200;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:275:127:0:0:2,194,79:19,6422,2357:-0.11,663.39,0.00:-0.11,184.80,0.00:-0.00,478.59,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:203.5,178.5,45.1:0,0,0:0,0,0:87,104,95:61,43,50:38,24,33:NR_031608.1(MIR663B) n.-5050A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133019710 rs79080455 A C 780 nt VT=SNV;PN=T;NN=A;SST=Single;DP=268;DB;DBA=NA;PAF=NA;NP=3451;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:268:114:0:0:49,219:1537,7308:0.00,779.84:0.00,230.16:0.00,549.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,174.6:0,0:0,0:89,99:62,49:41,28:-,NR_031608.1(MIR663B) n.-5057T>G:-,NOT_FOUND:-,NOT_FOUND 2 133019732 rs4018097 C T 151 nt VT=SNV;PN=T;NN=G;SST=Single;DP=231;DB;DBA=NA;PAF=NA;NP=300;PC=0.869 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:231:87:0:0:177,54:5485,1800:0.00,151.25:0.00,17.99:0.00,133.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:129.6,201.2:0,0:0,0:106,104:42,46:32,23:-,NR_031608.1(MIR663B) n.-5079G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019733 rs4018096 G A 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=249;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:226:83:0:0:25,201:839,5985:61.74,0.00:11.82,0.00:49.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:170.4,146.2:0,0:0,0:118,96:32,54:26,34:NR_031608.1(MIR663B) n.-5080C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019766 rs79671028 G A 438 nt VT=SNV;PN=G;NN=G;SST=Single;DP=172;DB;DBA=NA;PAF=NA;NP=3310;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:172:48:0:0:128,44:4191,1405:437.54,0.00:81.62,0.00:355.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:216.2,12.2:0,0:0,0:100,74:50,76:32,31:NR_031608.1(MIR663B) n.-5113C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019772 . A G 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=164;NP=194;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G,T:164:46:0:0:149,14,1:4750,447,8:0.00,30.72,-0.35:0.00,7.09,-0.10:0.00,23.63,-0.26:0.00,1.00,0.00:0.00,0.93,0.00:0.00,1.00,0.00:60,60,60:157.8,214.4,40.0:0,0,0:0,0,0:99,111,74:52,39,77:34,32,0:-,NR_031608.1(MIR663B) n.-5119T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019773 rs201854969 A G 109 nt VT=SNV;PN=A;NN=T;SST=Single;DP=160;DB;DBA=NA;PAF=NA;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:160:44:0:0:120,40:3825,1287:0.00,108.73:0.00,15.15:0.00,93.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:130.2,256.6:0,0:0,0:94,102:54,48:34,34:-,NR_031608.1(MIR663B) n.-5120T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019776 . G T 30 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=154;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,T:154:44:0:0:141,13:4733,430:0.00,29.86:0.00,-1.45:0.00,31.30:0.00,0.99:0.00,0.92:0.00,1.00:60,59:153.1,230.5:0,0:0,0:89,131:61,20:34,9:-,NR_031608.1(MIR663B) n.-5123C>A:-,NOT_FOUND:-,NOT_FOUND 2 133019777 rs140265434 C A 146 nt VT=SNV;PN=G;NN=C;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=17;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:150:43:0:0:53,97:1634,3095:146.37,0.00:19.91,0.00:126.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:252.3,108.8:0,0:0,0:107,89:44,62:33,29:NR_031608.1(MIR663B) n.-5124G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019778 rs199590060 C A 150 nt VT=SNV;PN=C;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:150:44:0:0:50,100:1677,2923:150.21,0.00:16.66,0.00:133.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:253.8,108.8:0,0:0,0:110,87:40,63:28,30:NR_031608.1(MIR663B) n.-5125G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019808 rs77439806 C G 131 nt VT=SNV;PN=A;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=1495;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:116:36:0:0:2,70,44:18,2343,1426:-0.26,0.00,130.55:0.00,0.00,21.39:-0.27,0.00,109.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,59:255.5,77.2,247.0:0,0,0:0,0,0:77,96,100:72,47,49:21,33,30:-,NR_031608.1(MIR663B) n.-5155G>C:-,NOT_FOUND:-,NOT_FOUND 2 133019817 . G C 84 nt VT=SNV;PN=T;NN=G;SST=Single;DP=111;NP=916;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:111:35:0:0:31,80:973,2534:83.56,0.00:23.37,0.00:60.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:175.0,126.8:0,0:0,0:103,100:47,45:33,27:NR_031608.1(MIR663B) n.-5164C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019823 rs113093815 T C 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=413;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:103:36:0:0:29,2,72:947,29,2258:82.26,0.21,0.00:20.34,0.18,0.00:61.92,0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:183.5,111.5,115.2:0,0,0:0,0,0:105,73,98:46,76,50:32,71,26:NR_031608.1(MIR663B) n.-5170A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019832 rs79611534 T A 167 nt VT=SNV;PN=T;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=1645;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:94:34:0:0:55,1,38:1686,12,1215:167.46,-0.01,0.00:40.74,0.10,0.00:126.72,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:214.4,81.0,10.2:0,0,0:0,0,0:98,108,86:46,42,55:24,0,40:NR_031608.1(MIR663B) n.-5179A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019835 rs532423192 A T 71 nt VT=SNV;PN=A;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=NA;NP=1;NP=7;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:95:34:0:0:68,27:1996,823:0.00,70.57:0.00,17.80:0.00,52.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:107.4,182.8:0,0:0,0:102,88:41,56:24,36:-,NR_031608.1(MIR663B) n.-5182T>A:-,NOT_FOUND:-,NOT_FOUND 2 133019862 rs112170664 G A 46 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=1036;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:28:0:0:18,52:552,1652:46.48,0.00:10.69,0.00:35.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,60:243.4,83.1:0,0:0,0:123,85:16,64:13,39:NR_031608.1(MIR663B) n.-5209C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019872 . C T 25 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=68;NP=98;PC=0.948 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:68:29:0:0:1,57,10:12,1824,321:-0.16,0.00,24.62:0.07,0.00,1.66:-0.22,0.00,22.96:0.00,0.00,0.99:0.00,0.00,0.97:0.00,0.00,1.00:60,60,40:264.0,83.9,270.4:0,0,0:0,0,0:120,75,129:30,76,6:0,37,6:-,NR_031608.1(MIR663B) n.-5219G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019878 rs79135039 T C 15 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:C,T:59:27:0:0:6,53:208,1629:15.25,0.00:14.17,0.00:1.08,0.00:0.83,0.00:0.87,0.00:0.94,0.00:40,60:161.2,76.0:0,0:0,0:71,81:80,70:63,37:NR_031608.1(MIR663B) n.-5225A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019886 rs376707089 T TGAA 42 nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.108;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,TGAA:57:26:16:0:4,1,36,16:133,27,1149,482:9.46,1.16,0.00,41.86:10.22,1.35,0.00,14.28:-0.76,-0.19,0.00,27.58:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:40,40,60,60:117.5,270.0,41.8,149.3:4,0,0,0:0,0,0,0:51,150,78,68:99,1,73,77:31,0,50,23:-,NR_031608.1(MIR663B) n.-5234_-5233insTTC:-,NOT_FOUND:-,NOT_FOUND 2 133019900 rs202004893 C CTT 42 nt VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.014;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTT:68:35:17:0:48,3,17:1599,90,505:0.00,5.43,42.38:0.00,5.93,16.13:0.00,-0.50,26.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:35.0,108.3,145.6:10,0,0:0,0,0:42,1,76:107,150,74:34,1,31:-,NR_031608.1(MIR663B) n.-5248_-5247insAA:-,NOT_FOUND:-,NOT_FOUND 2 133019901 rs201342637 T TTG 16 nt VT=INS;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=1;PC=0.807;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TTG:87:48:9:0:78,9:2383,237:0.00,15.51:0.00,12.12:0.00,3.39:0.00,0.96:0.00,0.97:0.00,0.97:60,58:74.3,57.1:17,0:0,0:37,27:96,115:29,9:-,NR_031608.1(MIR663B) n.-5249_-5248insCA:-,NOT_FOUND:-,NOT_FOUND 2 133019904 . T C 38 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=97;PC=0.820 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:57:0:0:16,81:488,2676:37.60,0.00:12.03,0.00:25.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:143.2,49.4:15,11:0,0:83,30:63,107:30,18:NR_031608.1(MIR663B) n.-5251A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133019915 . C T 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=110;NP=9;PC=0.499 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,T:110:66:0:0:101,9:3140,295:0.00,20.28:0.00,17.86:0.00,2.42:0.00,0.95:0.00,0.98:0.00,0.96:60,60:65.4,114.6:0,0:0,0:40,27:99,110:25,13:-,NR_031608.1(MIR663B) n.-5262G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019917 . A C 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=110;NP=14;PC=0.938 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,C:110:66:0:0:101,9:3237,275:0.00,18.31:0.00,16.01:0.00,2.30:0.00,0.95:0.00,0.98:0.00,0.96:60,60:66.9,114.6:0,0:0,0:40,29:100,108:23,13:-,NR_031608.1(MIR663B) n.-5264T>G:-,NOT_FOUND:-,NOT_FOUND 2 133019922 rs75576311 C A 75 nt VT=SNV;PN=C;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=1559;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:115:71:0:0:28,87:895,2837:75.15,0.00:39.47,0.00:35.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.0,64.5:0,21:0,0:21,49:128,92:11,25:NR_031608.1(MIR663B) n.-5269G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019923 rs141267515 AAGG A 46 nt VT=DEL;SST=Single;DP=115;DB;DBA=NA;PAF=NA;NP=189;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAGG,A:115:71:0:21:94,21:2926,592:0.00,45.52:0.00,33.96:0.00,11.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:75.4,47.2:0,0:0,0:40,49:101,90:26,11:-,NR_031608.1(MIR663B) n.-5273_-5271delCCT:-,NOT_FOUND:-,NOT_FOUND 2 133019924 rs113822113 A G 44 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=10;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:94:54:0:21:77,17:2515,551:0.00,43.92:0.00,14.58:0.00,29.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:61.8,137.9:0,0:0,0:33,101:113,49:19,35:-,NR_031608.1(MIR663B) n.-5271T>C:-,NOT_FOUND:-,NOT_FOUND 2 133019948 rs148551384 T A 126 nt VT=SNV;PN=A;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=NA;NP=2687;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:147:106:0:0:43,104:1437,3291:125.67,0.00:76.88,0.00:48.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:95.7,61.7:0,0:0,0:38,55:112,95:20,27:NR_031608.1(MIR663B) n.-5295A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019968 rs139977471 C T 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=1241;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:159:118:0:0:134,2,23:4198,19,740:0.00,-0.45,56.61:0.00,-0.14,44.69:0.00,-0.31,11.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,60:65.3,100.0,102.3:0,0,0:0,0,0:58,48,39:87,99,109:25,4,17:-,NR_031608.1(MIR663B) n.-5315G>A:-,NOT_FOUND:-,NOT_FOUND 2 133019987 rs533876666 G A 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=178;DB;DBA=NA;PAF=G/0.9904,A/0.009585;NP=91;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:178:132:0:0:19,159:590,5349:41.90,0.00:19.65,0.00:22.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,76.0:0,0:0,0:95,62:56,82:29,28:NR_031608.1(MIR663B) n.-5334C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133019998 . A C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=194;NP=1093;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C:194:145:0:0:178,16:5653,533:0.00,36.97:0.00,29.05:0.00,7.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:75.3,75.2:0,0:0,0:69,88:79,62:36,34:-,NR_031608.1(MIR663B) n.-5345T>G:-,NOT_FOUND:-,NOT_FOUND 2 133020031 rs111287169 A G 98 nt VT=SNV;PN=T;NN=G;SST=Single;DP=213;DB;DBA=NA;PAF=NA;NP=2294;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:213:158:0:0:174,39:5598,1232:0.00,97.86:0.00,58.26:0.00,39.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:103.1,120.9:0,0:0,0:61,62:85,83:39,29:-,NR_031608.1(MIR663B) n.-5378T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020059 rs113975411 C T 385 nt VT=SNV;PN=T;NN=C;SST=Single;DP=211;DB;DBA=NA;PAF=NA;NP=3465;PC=0.925 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:211:154:0:0:87,124:2838,3883:0.00,385.14:0.00,205.72:0.00,179.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:84.3,138.3:0,0:0,0:75,65:70,83:40,30:-,NR_031608.1(MIR663B) n.-5406G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020063 rs111555700 C T 111 nt VT=SNV;PN=T;NN=A;SST=Single;DP=209;DB;DBA=NA;PAF=NA;NP=2655;PC=0.952 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:209:151:0:0:167,42:5606,1365:0.00,111.02:0.00,61.40:0.00,49.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:116.1,122.4:0,0:0,0:67,88:81,53:29,35:-,NR_031608.1(MIR663B) n.-5410G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020074 rs111959326 G A 226 nt VT=SNV;PN=G;NN=G;SST=Single;DP=205;DB;DBA=NA;PAF=NA;NP=3392;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:205:147:0:0:75,2,126,2:2480,10,3980,32:226.09,-0.50,0.00,0.25:127.74,-0.31,0.00,0.36:98.36,-0.19,0.00,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,40:179.0,64.0,88.5,215.5:0,0,0,0:0,0,0,0:64,77,78,62:85,73,70,88:26,7,30,12:NR_031608.1(MIR663B) n.-5421C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020113 rs113924484 A G 71 nt VT=SNV;PN=A;NN=T;SST=Single;DP=205;DB;DBA=NA;PAF=NA;NP=3118;PC=0.545 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:205:130:0:0:178,27:5723,923:0.00,70.51:0.00,47.82:0.00,22.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:136.0,112.7:97,0:0,0:89,94:62,57:30,23:-,NR_031608.1(MIR663B) n.-5460T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020115 rs369260435 CT C 287 nt VT=DEL;SST=Single;DP=206;DB;DBA=NA;PAF=NA;NP=2437;PC=0.598;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:206:131:0:98:109,97:3575,3030:0.00,287.40:0.00,175.50:0.00,111.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:80.9,192.2:0,0:0,0:100,87:50,64:31,28:-,NR_031608.1(MIR663B) n.-5463delA:-,NOT_FOUND:-,NOT_FOUND 2 133020118 . C T 302 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=190;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:190:126:0:0:1,90,99:30,2984,3112:1.01,0.00,301.51:1.10,0.00,174.90:-0.09,0.00,126.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:30.0,86.1,191.3:0,0,98:0,0,0:3,87,91:148,61,60:0,32,28:-,NR_031608.1(MIR663B) n.-5465G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020124 . G A 268 nt VT=SNV;PN=A;NN=C;SST=Single;DP=193;NP=2005;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:193:126:0:0:89,104:2832,3434:267.77,0.00:171.98,0.00:95.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:198.2,97.5:0,0:0,0:97,88:54,58:27,34:NR_031608.1(MIR663B) n.-5471C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020147 . C T 181 nt VT=SNV;PN=G;NN=C;SST=Single;DP=205;NP=69;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:205:126:0:0:137,1,67:4445,13,2052:0.00,-0.19,181.05:0.00,-0.05,93.07:0.00,-0.14,87.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,60:111.7,129.0,225.1:1,0,0:0,0,0:82,3,75:68,147,76:41,0,46:-,NR_031608.1(MIR663B) n.-5494G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020151 rs62165965 T C 344 nt VT=SNV;PN=T;NN=T;SST=Single;DP=195;DB;DBA=NA;PAF=NA;NP=3474;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:195:117:0:0:107,88:3514,2764:344.09,0.00:183.90,0.00:160.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:190.8,101.5:0,1:0,0:80,78:69,72:40,50:NR_031608.1(MIR663B) n.-5498A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020155 rs583051 G A 283 nt VT=SNV;PN=C;NN=T;SST=Single;DP=199;DB;DBA=NA;PAF=G/0.9986,A/0.001398,T/.;NP=2387;NP=903;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:199:120:0:0:91,80,28:2918,2497,907:282.94,0.00,75.00:164.77,0.00,42.73:118.16,0.00,32.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:193.9,104.6,142.6:1,0,0:0,0,0:82,76,112:69,74,37:47,35,29:NR_031608.1(MIR663B) n.-5502C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020160 rs112948007 A T 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=NA;NP=2602;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:198:119:0:0:171,27:5492,833:0.00,62.06:0.00,33.11:0.00,28.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:146.6,146.6:0,0:0,0:69,105:82,44:41,42:-,NR_031608.1(MIR663B) n.-5507T>A:-,NOT_FOUND:-,NOT_FOUND 2 133020164 rs111618765 G T 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=NA;NP=3321;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:200:123:0:0:1,162,37:10,4955,1112:-0.30,0.00,87.42:-0.13,0.00,45.13:-0.17,0.00,42.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:56.0,145.6,130.0:0,6,0:0,0,0:29,80,33:122,68,118:0,44,27:-,NR_031608.1(MIR663B) n.-5511C>A:-,NOT_FOUND:-,NOT_FOUND 2 133020165 rs138211932 G A 42 nt VT=SNV;PN=G;NN=A;SST=Single;DP=200;DB;DBA=NA;PAF=NA;NP=3310;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:200:123:0:0:21,179:612,5691:42.22,0.00:26.24,0.00:15.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:136.3,142.5:0,6:0,0:59,67:91,83:41,41:NR_031608.1(MIR663B) n.-5512C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020186 rs112259198 T C 205 nt VT=SNV;PN=G;NN=T;SST=Single;DP=206;DB;DBA=NA;PAF=NA;NP=3218;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:206:127:0:0:69,2,135:2292,25,4099:205.46,-0.24,0.00:102.34,-0.04,0.00:103.12,-0.20,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:184.1,202.5,96.0:0,0,0:0,0,0:56,102,55:95,48,96:37,45,34:NR_031608.1(MIR663B) n.-5533A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020214 rs111855400 A G 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=3014;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:226:150:0:0:204,22:6404,750:0.00,54.19:0.00,27.23:0.00,26.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:112.1,145.8:0,0:0,0:65,62:80,87:33,25:-,NR_031608.1(MIR663B) n.-5561T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020215 rs75474503 T C 224 nt VT=SNV;PN=A;NN=T;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=3438;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:226:149:0:0:74,1,151:2506,13,4879:224.04,-0.18,0.00:118.60,-0.06,0.00:105.44,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,40,60:149.2,117.0,94.6:0,0,0:0,0,0:50,62,69:92,89,79:27,0,37:NR_031608.1(MIR663B) n.-5562A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020226 rs113400576 C T 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=235;DB;DBA=NA;PAF=NA;NP=3123;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:235:156:0:0:213,22:7071,645:0.00,43.47:0.00,26.72:0.00,16.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:110.8,147.5:0,0:0,0:61,101:86,44:32,31:-,NR_031608.1(MIR663B) n.-5573G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020261 rs34401401 A G 776 nt VT=SNV;PN=T;NN=T;SST=Single;DP=245;DB;DBA=NA;PAF=NA;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:245:160:0:0:32,212,1:980,7162,8:0.00,776.15,-0.03:0.00,388.12,-0.01:0.00,388.03,-0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,59:12.5,131.5,60.0:0,0,0:0,0,0:88,78,63:62,69,88:39,32,0:-,NR_031608.1(MIR663B) n.-5608T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020278 rs62165968 T C 117 nt VT=SNV;PN=G;NN=C;SST=Single;DP=246;DB;DBA=NA;PAF=NA;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:246:152:0:0:47,199:1470,6145:117.43,0.00:59.47,0.00:57.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:145.4,110.4:0,0:0,0:59,78:92,66:36,32:NR_031608.1(MIR663B) n.-5625A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020292 rs140773701 T C 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=233;DB;DBA=NA;PAF=NA;NP=3074;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:233:142:0:0:24,2,207:790,20,6594:57.02,-0.63,0.00:30.51,-0.38,0.00:26.51,-0.25,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,52,60:131.5,170.0,113.0:0,0,0:0,0,0:86,46,82:57,103,67:29,45,34:NR_031608.1(MIR663B) n.-5639A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020303 rs141356134 G A 108 nt VT=SNV;PN=T;NN=C;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=3054;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:226:137:0:0:43,183:1353,6041:108.12,0.00:41.99,0.00:66.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:118.8,114.6:0,0:0,0:95,83:54,68:24,34:NR_031608.1(MIR663B) n.-5650C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020316 rs79805392 A C 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=224;DB;DBA=NA;PAF=NA;NP=399;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:224:128:0:0:196,28:6252,918:0.00,68.59:0.00,24.61:0.00,43.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:114.1,155.4:0,0:0,0:96,41:54,103:32,28:-,NR_031608.1(MIR663B) n.-5663T>G:-,NOT_FOUND:-,NOT_FOUND 2 133020331 . A T 41 nt VT=SNV;PN=T;NN=G;SST=Single;DP=216;NP=1582;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,T:216:120:0:1:197,19:6363,601:0.00,41.39:0.00,18.90:0.00,22.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:127.8,154.4:0,0:0,0:78,88:68,63:36,39:-,NR_031608.1(MIR663B) n.-5678T>A:-,NOT_FOUND:-,NOT_FOUND 2 133020337 rs111525986 A G 162 nt VT=SNV;PN=G;NN=T;SST=Single;DP=214;DB;DBA=NA;PAF=NA;NP=3405;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:214:118:0:0:153,60,1:4818,1884,9:0.00,162.04,-0.29:0.00,84.34,-0.10:0.00,77.70,-0.19:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,51,49:125.0,152.8,178.0:0,0,0:0,0,0:84,76,102:62,74,39:35,40,0:-,NR_031608.1(MIR663B) n.-5684T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020338 rs142313371 T C 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=2140;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:215:119:0:0:1,31,1,182:12,1012,10,5532:-0.31,77.74,-0.34,0.00:-0.11,19.30,-0.19,0.00:-0.20,58.44,-0.15,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:19,60,57,60:171.0,142.9,144.0,131.8:0,0,0,0:0,0,0,0:129,107,82,75:22,43,69,74:0,15,0,38:NR_031608.1(MIR663B) n.-5685A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020339 . T G 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=213;NP=1;NP=1873;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G,T:213:116:0:0:1,19,193:10,626,6104:-0.37,43.93,0.00:-0.13,21.41,0.00:-0.23,22.51,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:25,60,60:202.0,158.7,130.9:0,0,0:0,0,0:4,96,78:147,55,70:0,30,38:NR_031608.1(MIR663B) n.-5686A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133020346 rs111521322 T C 76 nt VT=SNV;PN=T;NN=A;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=1414;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:215:114:0:0:31,184:997,5675:76.07,0.00:25.48,0.00:50.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:166.6,132.6:0,0:0,0:62,89:81,59:30,38:NR_031608.1(MIR663B) n.-5693A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020354 rs113049242 C G 76 nt VT=SNV;PN=T;NN=G;SST=Single;DP=215;DB;DBA=NA;PAF=NA;NP=1776;NP=653;PC=0.893 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:215:114:0:0:1,174,31,9:12,5369,987,256:-0.29,0.00,75.75,14.60:-0.17,0.00,21.43,14.15:-0.12,0.00,54.32,0.45:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:40.0,130.1,161.9,182.9:0,0,0,0:0,0,0,0:36,91,75,55:109,60,65,95:0,39,27,38:-,NR_031608.1(MIR663B) n.-5701G>C:-,NOT_FOUND:-,NOT_FOUND 2 133020355 rs113296364 G A 161 nt VT=SNV;PN=C;NN=A;SST=Single;DP=214;DB;DBA=NA;PAF=NA;NP=3178;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:214:114:0:0:59,155:1877,4721:161.20,0.00:75.97,0.00:85.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:165.4,126.6:0,0:0,0:75,71:76,76:39,40:NR_031608.1(MIR663B) n.-5702C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020363 rs62165969 G A 66 nt VT=SNV;PN=T;NN=G;SST=Single;DP=210;DB;DBA=NA;PAF=NA;NP=3297;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:210:109:0:0:28,180,2:878,5621,41:65.63,0.00,1.06:30.53,0.00,1.52:35.10,0.00,-0.46:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,51:119.4,140.0,220.5:0,0,0:0,0,0:57,82,54:92,64,97:42,38,8:NR_031608.1(MIR663B) n.-5710C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020372 rs576622164 C G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=202;DB;DBA=NA;PAF=C/0.9844,T/0.01558;NP=121;NP=18;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C,G:202:104:0:0:2,180,20:46,5809,615:1.26,0.00,42.95:-0.37,0.00,2.85:1.62,0.00,40.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:59,60,60:134.0,140.8,164.6:0,0,0:0,0,0:106,69,130:33,78,20:38,36,12:-,NR_031608.1(MIR663B) n.-5719G>C:-,NOT_FOUND:-,NOT_FOUND 2 133020382 rs113897499 C T 286 nt VT=SNV;PN=A;NN=T;SST=Single;DP=193;DB;DBA=NA;PAF=NA;NP=3137;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:193:96:0:0:97,96:3139,2982:0.00,285.84:0.00,133.48:0.00,152.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:102.1,184.8:0,0:0,0:72,87:74,64:36,37:-,NR_031608.1(MIR663B) n.-5729G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020404 rs75576404 T G 262 nt VT=SNV;PN=G;NN=T;SST=Single;DP=181;DB;DBA=NA;PAF=NA;NP=2946;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:181:90:0:0:88,93:2742,2973:261.62,0.00:137.24,0.00:124.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:201.6,99.5:0,0:0,0:66,86:81,59:40,30:NR_031608.1(MIR663B) n.-5751A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133020415 rs111301562 G T 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=174;DB;DBA=NA;PAF=NA;NP=753;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:174:88:0:0:153,21:5057,657:0.00,48.00:0.00,3.72:0.00,44.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:150.5,162.5:0,0:0,0:75,110:70,34:34,12:-,NR_031608.1(MIR663B) n.-5762C>A:-,NOT_FOUND:-,NOT_FOUND 2 133020438 rs143851984 C T 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=165;DB;DBA=NA;PAF=NA;NP=1808;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:165:86:0:0:137,2,26:4478,32,854:0.00,0.09,66.78:0.00,0.25,20.83:0.00,-0.16,45.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,60:164.0,169.5,122.9:0,0,0:0,0,0:89,110,83:59,40,68:36,40,32:-,NR_031608.1(MIR663B) n.-5785G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020439 rs147811398 A T 145 nt VT=SNV;PN=C;NN=T;SST=Single;DP=166;DB;DBA=NA;PAF=NA;NP=2077;NP=5;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:166:90:0:0:75,42,49:2400,1334,1594:0.00,118.90,145.43:0.00,52.69,79.90:0.00,66.20,65.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,51:129.5,144.7,214.3:0,0,0:0,0,0:93,77,84:47,73,67:33,38,36:-,NR_031608.1(MIR663B) n.-5786T>A:-,NOT_FOUND:-,NOT_FOUND 2 133020451 rs201532668 T C 252 nt VT=SNV;PN=T;NN=T;SST=Single;DP=150;DB;DBA=NA;PAF=NA;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:150:83:0:0:1,78,71:14,2596,2261:-0.04,252.00,0.00:0.09,130.98,0.00:-0.13,121.01,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:40,57,60:216.0,214.6,93.0:0,0,0:0,0,0:17,62,102:131,87,48:0,34,26:NR_031608.1(MIR663B) n.-5798A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020452 rs142099829 T C 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:144:79:0:0:35,109:1046,3655:86.63,0.00:35.03,0.00:51.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:220.4,139.8:0,0:0,0:98,86:45,65:34,31:NR_031608.1(MIR663B) n.-5799A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020453 rs77013801 C G 228 nt VT=SNV;PN=T;NN=C;SST=Single;DP=141;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:141:78:0:0:2,52,67,20:42,1707,2323,594:1.72,0.00,228.07,48.63:1.89,0.00,92.60,28.29:-0.18,0.00,135.46,20.34:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:43,60,60,55:219.0,57.0,216.3,230.0:0,0,0,0:0,0,0,0:67,98,83,59:83,51,68,91:62,24,30,35:-,NR_031608.1(MIR663B) n.-5800G>C:-,NOT_FOUND:-,NOT_FOUND 2 133020460 rs532512007 G C 56 nt VT=SNV;PN=G;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:149:83:0:0:1,22,126:11,723,4117:-0.29,55.85,0.00:-0.07,36.87,0.00:-0.22,18.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:25,55,60:202.0,218.6,140.7:0,0,0:0,0,0:125,65,78:26,85,73:0,40,41:NR_031608.1(MIR663B) n.-5807C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020470 rs111661146 C T 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=NA;NP=301;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:149:83:0:0:125,24:4179,766:0.00,59.54:0.00,20.87:0.00,38.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:160.5,107.5:0,1:0,0:76,84:73,66:41,31:-,NR_031608.1(MIR663B) n.-5817G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020480 rs112602486 C CT 352 nt VT=INS;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=67;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT:142:72:114:0:27,1,114:846,18,3291:0.00,0.28,351.81:0.00,0.33,142.76:0.00,-0.05,209.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,51,60:26.3,93.0,173.1:0,0,0:0,0,0:106,113,64:43,37,86:40,0,39:-,NR_031608.1(MIR663B) n.-5828_-5827insA:-,NOT_FOUND:-,NOT_FOUND 2 133020495 rs145359076 C T 271 nt VT=SNV;PN=A;NN=A;SST=Single;DP=138;DB;DBA=NA;PAF=NA;NP=670;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:138:65:0:0:55,83:1828,2713:0.00,270.64:0.00,105.78:0.00,164.86:0.00,1.00:0.00,1.00:0.00,1.00:60,50:76.4,182.5:0,0:0,0:73,70:78,81:42,33:-,NR_031608.1(MIR663B) n.-5842G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020496 rs74896529 A G 302 nt VT=SNV;PN=C;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=NA;NP=1692;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:135:63:0:0:44,91:1527,2962:0.00,302.48:0.00,118.76:0.00,183.72:0.00,1.00:0.00,1.00:0.00,1.00:60,53:55.1,188.0:0,0:0,0:97,74:51,76:37,33:-,NR_031608.1(MIR663B) n.-5843T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020539 . A G 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=141;NP=1416;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:141:58:0:0:119,1,21:4059,8,672:0.00,-0.32,51.55:0.00,-0.10,20.30:0.00,-0.22,31.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,41,45:122.4,272.0,176.8:0,0,0:0,0,0:70,13,80:78,138,70:35,0,40:-,NR_031608.1(MIR663B) n.-5886T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020542 rs80203822 G A 157 nt VT=SNV;PN=T;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=NA;NP=2965;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:138:58:0:0:50,88:1721,2839:156.74,0.00:35.72,0.00:121.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:156.5,121.4:0,0:0,0:69,82:81,66:36,33:NR_031608.1(MIR663B) n.-5889C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020562 rs138853866 C T 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=NA;NP=1659;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,C,T:135:52:0:0:1,123,11:10,3985,358:-0.30,0.00,24.55:-0.11,0.00,6.08:-0.20,0.00,18.47:0.00,0.00,0.98:0.00,0.00,0.95:0.00,0.00,1.00:41,60,54:272.0,124.8,168.4:0,15,0:0,0,0:36,85,91:115,63,52:0,37,14:-,NR_031608.1(MIR663B) n.-5909G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020566 rs139323176 T TA 35 nt VT=INS;SST=Single;DP=136;DB;DBA=NA;PAF=NA;NP=839;PC=1.000;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,G,T,TA:136:52:15:0:1,1,119,15:12,12,3824,478:-0.25,-0.25,0.00,34.57:-0.10,-0.10,0.00,11.65:-0.15,-0.15,0.00,22.92:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:40,9,60,60:162.0,200.0,133.5,80.3:0,0,0,0:0,0,0,0:0,81,89,81:151,69,61,69:0,0,32,42:-,NR_031608.1(MIR663B) n.-5914_-5913insT:-,NOT_FOUND:-,NOT_FOUND 2 133020576 rs78170507 G A 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=NA;NP=1667;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,G:126:45:0:0:14,112:459,3670:33.53,0.00:6.83,0.00:26.70,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:81.9,129.3:0,0:0,0:69,92:80,57:21,30:NR_031608.1(MIR663B) n.-5923C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020597 rs142738817 G GA 285 nt VT=INS;SST=Single;DP=113;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3352;PC=1.000;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:113:38:96:0:17,96:561,2625:0.00,285.11:0.00,69.02:0.00,216.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,133.4:0,0:0,0:119,95:32,55:25,25:-,NR_031608.1(MIR663B) n.-5945_-5944insT:-,NOT_FOUND:-,NOT_FOUND 2 133020620 rs75683554 A T 212 nt VT=SNV;PN=T;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=1778;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:82:22:0:0:22,60:763,2038:0.00,211.71:0.00,48.66:0.00,163.05:0.00,1.00:0.00,1.00:0.00,1.00:60,49:51.4,159.2:0,0:0,0:102,105:48,44:20,13:-,NR_031608.1(MIR663B) n.-5967T>A:-,NOT_FOUND:-,NOT_FOUND 2 133020635 rs76411606 G A 218 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=1780;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:20:0:0:62,10:2007,343:217.67,0.00:51.71,0.00:165.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:149.1,0.0:0,0:0,0:118,112:30,37:11,22:NR_031608.1(MIR663B) n.-5982C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020648 . C A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;PC=0.823 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:63:16:0:0:7,56:201,1834:13.96,0.00:4.00,0.00:9.96,0.00:0.90,0.00:0.76,0.00:0.99,0.00:45,60:195.7,124.2:0,0:0,0:123,126:28,21:17,10:NR_031608.1(MIR663B) n.-5995G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020656 . T A 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=50;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:50:13:0:0:12,38:385,1229:32.26,0.00:7.62,0.00:24.64,0.00:1.00,0.00:0.94,0.00:1.00,0.00:40,60:207.8,127.5:0,0:0,0:133,131:16,19:5,11:NR_031608.1(MIR663B) n.-6003A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020657 rs74659814 A G 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:12:0:0:15,32:464,1024:0.00,104.85:0.00,23.09:0.00,81.77:0.00,1.00:0.00,1.00:0.00,1.00:60,45:54.7,190.5:0,0:0,0:126,132:24,18:17,8:-,NR_031608.1(MIR663B) n.-6004T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020665 rs75614706 T C 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:8:0:0:26,12:765,396:78.57,0.00:13.27,0.00:65.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:45,60:203.0,51.8:0,0:0,0:139,121:11,29:6,21:NR_031608.1(MIR663B) n.-6012A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020675 rs80191268 C T 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.989 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:6:0:0:11,15:330,463:0.00,45.78:0.00,11.86:0.00,33.93:0.00,1.00:0.00,0.99:0.00,1.00:60,42:65.7,231.9:0,0:0,0:110,140:41,6:34,8:-,NR_031608.1(MIR663B) n.-6022G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020681 rs75721902 T A 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=21;PC=0.723 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,T:17:2:0:0:12,5:354,160:36.61,0.00:6.35,0.00:30.26,0.00:1.00,0.00:0.93,0.00:1.00,0.00:40,60:208.9,0.0:0,0:0,0:127,72:22,79:10,31:NR_031608.1(MIR663B) n.-6028A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020682 rs79749243 A G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=21;PC=0.706 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:A,G:16:2:0:0:5,11:166,333:0.00,34.22:0.00,6.93:0.00,27.29:0.00,1.00:0.00,0.92:0.00,1.00:60,40:0.0,203.6:0,0:0,0:73,125:78,24:31,8:-,NR_031608.1(MIR663B) n.-6029T>C:-,NOT_FOUND:-,NOT_FOUND 2 133020691 . C G 8 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;PC=0.367 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:20:2:0:0:17,3:542,102:0.00,7.96:0.00,-0.11:0.00,8.07:0.00,0.50:0.00,0.40:0.00,0.90:60,40:152.2,170.7:0,0:0,0:126,5:25,145:22,0:-,NR_031608.1(MIR663B) n.-6038G>C:-,NOT_FOUND:-,NOT_FOUND 2 133020702 . T A 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;PC=0.063 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,T:22:0:0:0:4,18:117,586:9.09,0.00:0.00,0.00:9.09,0.00:0.70,0.00:0.00,0.00:0.70,0.00:42,60:185.2,131.5:0,0:0,0:18,24:132,124:8,22:NR_031608.1(MIR663B) n.-6049A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020713 rs111308645 G A 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=65;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:20:0:0:0:3,17:97,544:7.46,0.00:0.00,0.00:7.46,0.00:0.50,0.00:0.00,0.00:0.50,0.00:56,60:144.7,135.6:0,0:0,0:39,32:112,117:26,12:NR_031608.1(MIR663B) n.-6060C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020724 rs62165970 C T 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=250;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:19:0:0:0:4,15:129,480:0.00,50.91:0.00,0.00:0.00,50.91:0.00,1.00:0.00,0.00:0.00,1.00:60,57:0.0,164.4:0,0:0,0:107,34:43,117:23,9:-,NR_031608.1(MIR663B) n.-6071G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020743 rs144296632 C CT 22 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=134;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:20:0:9:0:11,9:360,241:0.00,22.38:0.00,0.00:0.00,22.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:109.1,163.6:0,0:0,0:62,50:87,101:12,7:-,NR_031608.1(MIR663B) n.-6091_-6090insA:-,NOT_FOUND:-,NOT_FOUND 2 133020750 rs78777829 G A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=74;PC=0.061 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:20:0:0:0:3,17:102,510:7.97,0.00:0.00,0.00:7.97,0.00:0.50,0.00:0.00,0.00:0.50,0.00:60,60:147.7,131.1:0,0:0,0:51,64:99,86:7,12:NR_031608.1(MIR663B) n.-6097C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020761 rs147602387 G C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=272;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:C,G:19:0:0:0:4,15:142,448:11.86,0.00:0.00,0.00:11.86,0.00:0.72,0.00:0.00,0.00:0.72,0.00:42,60:168.8,133.1:0,0:0,0:75,70:75,81:2,15:NR_031608.1(MIR663B) n.-6108C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020762 rs140527914 G A 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=284;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,G:19:0:0:0:4,15:136,448:11.27,0.00:0.00,0.00:11.27,0.00:0.72,0.00:0.00,0.00:0.72,0.00:42,60:168.8,133.1:0,0:0,0:76,71:74,80:2,15:NR_031608.1(MIR663B) n.-6109C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020772 rs78954702 C T 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1067;PC=0.050 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:10,9:321,299:0.00,28.49:0.00,0.00:0.00,28.49:0.00,1.00:0.00,0.00:0.00,1.00:60,60:120.0,163.6:0,0:0,0:88,80:61,71:12,7:-,NR_031608.1(MIR663B) n.-6119G>A:-,NOT_FOUND:-,NOT_FOUND 2 133020786 rs185576596 A T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9852,C/0.01478;NP=10;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,T:18:0:0:0:15,3:434,99:0.00,7.82:0.00,0.00:0.00,7.82:0.00,0.52:0.00,0.00:0.00,0.52:60,42:141.4,183.7:0,0:0,0:95,97:56,54:10,3:-,NR_031608.1(MIR663B) n.-6133T>A:-,NOT_FOUND:-,NOT_FOUND 2 133020801 rs112432912 T C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=152;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:C,T:19:0:0:0:4,15:109,478:8.57,0.00:0.00,0.00:8.57,0.00:0.72,0.00:0.00,0.00:0.72,0.00:60,60:110.5,157.0:0,0:0,0:105,112:45,39:13,10:NR_031608.1(MIR663B) n.-6148A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020823 . T G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;NP=45;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,G,T:18:0:0:0:1,5,12:6,135,387:-0.14,11.40,0.00:0.00,0.00,0.00:-0.14,11.40,0.00:0.00,0.87,0.00:0.00,0.00,0.00:0.00,0.87,0.00:55,45,60:100.0,185.8,147.3:0,0,0:0,0,0:132,134,127:19,17,23:0,13,12:NR_031608.1(MIR663B) n.-6170A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133020831 rs78830067 G A 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=716;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:8,7:252,206:24.53,0.00:0.00,0.00:24.53,0.00:1.00,0.00:0.00,0.00:1.00,0.00:45,60:179.0,119.7:0,0:0,0:143,131:7,20:5,9:NR_031608.1(MIR663B) n.-6178C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 133020849 rs112308839 T C 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=188;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:7:0:0:0:3,4:100,120:9.36,0.00:0.00,0.00:9.36,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:153.7,130.2:0,0:0,0:61,138:90,11:49,11:NR_031608.1(MIR663B) n.-6196A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020879 rs149618909 T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=16;NP=4;PC=0.056 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:3:A,C,T:5:0:0:0:1,3,1:9,78,11:0.60,8.16,0.00:0.00,0.00,0.00:0.60,8.16,0.00:0.00,0.78,0.00:0.00,0.00,0.00:0.00,0.78,0.00:45,60,60:125.0,188.0,70.0:0,0,0:0,0,0:91,42,140:60,107,11:0,29,0:NR_031608.1(MIR663B) n.-6226A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133020892 rs77104576 G A,C 12 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=175;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:4:0:0:0:1,3:10,108:0.88,11.86:0.00,0.00:0.88,11.86:0.00,0.85:0.00,0.00:0.00,0.85:42,45:221.0,184.3:0,0:0,0:4,55:146,94:0,29:NR_031608.1(MIR663B) n.-6239C>T,NR_031608.1(MIR663B) n.-6239C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133020950 rs74864870 T A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:130:15.33:0.00:15.33:1.00:0.00:1.00:42:205.4:0:0:62:88:27:NR_031608.1(MIR663B) n.-6297A>T,NR_031608.1(MIR663B) n.-6297A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133020965 rs145853565 T A 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=13;PC=0.132 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:133:15.66:0.00:15.66:1.00:0.00:1.00:42:205.4:0:0:77:73:27:NR_031608.1(MIR663B) n.-6312A>T,NR_031608.1(MIR663B) n.-6312A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133020973 rs62165971 C G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.220 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:160:18.38:0.00:18.38:1.00:0.00:1.00:42:205.4:0:0:85:65:27:NR_031608.1(MIR663B) n.-6320G>C,NR_031608.1(MIR663B) n.-6320G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133020991 rs74966299 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.060 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:42:206.8:0:0:89:60:16:NR_031608.1(MIR663B) n.-6338A>G,NR_031608.1(MIR663B) n.-6338A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133020997 rs75781540 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9852,G/0.01478;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:94:11.25:0.00:11.25:1.00:0.00:1.00:42:206.8:0:0:95:54:16:NR_031608.1(MIR663B) n.-6344G>C,NR_031608.1(MIR663B) n.-6344G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133021015 rs112813197 CA C 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7;PC=0.229;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:CA,C:4:0:0:3:1,3:28,82:0.00,8.65:0.00,0.00:0.00,8.65:0.00,0.85:0.00,0.00:0.00,0.85:42,42:228.0,199.7:0,0:0,0:149,100:2,50:0,5:-,NR_031608.1(MIR663B) n.-6363delT:-,NOT_FOUND:-,NOT_FOUND 2 133024045 rs62166023 G C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9988,C/0.001198;NP=79;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:4:4:0:0:2,2:68,72:6.55,0.00:6.70,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:57,60:271.0,63.0:0,0:0,0:36,86:114,64:0,3:chr2 g.133024044G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133024087 rs555684031 G C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9942,C/0.005791;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:5:4:0:0:2,3:70,101:6.49,0.00:5.04,0.00:1.46,0.00:0.46,0.00:0.87,0.00:0.80,0.00:57,60:271.0,85.7:2,0:0,0:74,123:76,28:0,9:chr2 g.133024086G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133024095 rs200201893 C A,G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:29:A,C,G:5:4:0:0:2,1,2:66,35,62:6.54,0.00,6.14:3.27,0.00,4.91:3.27,0.00,1.23:0.46,0.00,0.00:0.87,0.00,0.00:0.80,0.00,0.00:23,60,57:128.5,0.0,271.0:0,0,0:0,0,0:109,140,82:25,11,68:22,0,0:chr2 g.133024094C>A (intergenic),chr2 g.133024094C>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133024139 . G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:4:3:0:0:2,2:68,70:6.55,0.00:5.21,0.00:1.34,0.00:0.51,0.00:0.89,0.00:0.89,0.00:53,52:250.5,154.5:2,0:0,0:98,68:52,54:26,63:chr2 g.133024138G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133024147 . C A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,C:4:3:0:0:2,2:68,68:6.55,0.00:5.21,0.00:1.34,0.00:0.51,0.00:0.89,0.00:0.89,0.00:57,52:271.0,151.0:0,0:0,0:132,76:18,46:0,63:chr2 g.133024146C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133024151 rs62637108 T A 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,T:4:3:0:0:3,1:105,33:10.95,0.00:7.65,0.00:3.30,0.00:0.85,0.00:0.99,0.00:0.99,0.00:53,6:226.3,131.0:0,0:0,0:84,143:67,-25:52,0:chr2 g.133024150T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133029307 . C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;NP=31;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:136:15.51:11.58:3.93:1.00:1.00:1.00:60:67.8:0:0:34:95:3:chr2 g.133029306C>T (intergenic),chr2 g.133029306C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133029331 rs202057165 CAGAT C 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;PC=0.016;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:4:4:107:12.60:8.92:3.68:1.00:1.00:1.00:60:67.8:0:0:58:71:3:chr2 g.133029332_133029335delAGAT (intergenic),chr2 g.133029332_133029335delAGAT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133029339 rs112743763 A C 16 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:140:15.91:11.93:3.98:1.00:1.00:1.00:53:75.0:4:0:65:67:15:chr2 g.133029338A>C (intergenic),chr2 g.133029338A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133029384 rs62167470 T C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:141:16.01:11.98:4.03:1.00:1.00:1.00:53:75.0:0:0:110:22:15:chr2 g.133029383T>C (intergenic),chr2 g.133029383T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133031532 rs113787243 AC A 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5;PC=0.014;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:4:4:131:15.01:5.72:9.29:1.00:1.00:1.00:60:8.0:0:0:63:60:15:chr2 g.133031533delC (intergenic),chr2 g.133031533delC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133032639 rs368555453 G A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G:8:8:0:0:3,5:77,152:6.82,0.00:6.82,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:244.0,36.8:0,0:0,0:42,55:109,96:31,44:chr2 g.133032638G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133032640 rs372572126 G T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:G,T:8:8:0:0:4,4:131,109:0.00,10.37:0.00,10.37:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:3.2,225.8:0,0:0,0:78,33:73,115:30,15:-,chr2 g.133032639G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 133032647 rs376694641 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G:8:8:0:0:3,5:104,128:9.55,0.00:9.55,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:244.0,36.8:0,0:0,0:50,63:101,88:31,44:chr2 g.133032646G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133032658 rs143108937 G C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,G:9:9:0:0:3,6:105,163:9.45,0.00:7.70,0.00:1.75,0.00:0.64,0.00:0.64,0.00:0.56,0.00:60,60:244.0,34.8:0,0:0,0:61,58:90,90:31,44:chr2 g.133032657G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133032691 rs368960063 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=109;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G,T:9:7:0:0:3,5,1:103,140,12:9.44,0.00,0.52:6.40,0.00,-0.15:3.05,0.00,0.66:0.64,0.00,0.00:0.92,0.00,0.00:0.42,0.00,0.00:60,60,60:244.0,41.4,87.0:0,0,0:0,0,0:94,28,11:57,123,140:31,5,0:chr2 g.133032690G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133032702 rs371277532 AGAGT A 9 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=39;PC=0.001;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:AGAGT,A:9:6:0:3:6,3:162,100:0.00,8.96:0.00,2.78:0.00,6.18:0.00,0.64:0.00,0.42:0.00,0.92:60,55:49.0,194.0:0,0:0,0:38,52:113,99:10,19:-,chr2 g.133032703_133032706delGAGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 133032731 rs8179647 A G 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=250;PC=0.127 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:10:7:0:0:7,3:206,103:0.00,9.08:0.00,2.94:0.00,6.14:0.00,0.62:0.00,0.89:0.00,0.94:60,55:41.7,194.0:0,0:0,0:68,77:83,74:17,19:-,chr2 g.133032730A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 133032740 . TTGTGTG T 9 idl,rn VT=DEL;SST=Single;DP=8;PC=0.063;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:TTGTGTG,T:7:5:0:6:4,3:130,129:0.00,8.84:0.00,2.84:0.00,5.99:0.00,0.67:0.00,0.90:0.00,0.95:60,60:145.5,12.0:0,1:0,0:96,73:49,77:20,3:-,chr2 g.133032741_133032746delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 133032792 . GA G 9 idl,nt VT=DEL;SST=Single;DP=9;PC=0.063;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:GA,G:9:1:0:4:6,3:189,103:0.00,9.25:0.00,-0.09:0.00,9.33:0.00,0.64:0.00,0.56:0.00,0.64:60,55:33.2,166.0:1,3:0,0:112,102:36,49:11,21:-,chr2 g.133032793delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 133032822 rs201039314 G A 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.064 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:7:2:0:0:3,4:97,125:9.06,0.00:1.53,0.00:7.52,0.00:0.69,0.00:0.73,0.00:0.69,0.00:40,60:186.7,47.5:0,0:0,0:104,122:46,10:27,16:chr2 g.133032821G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133032826 rs62163765 T C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.9984,C/0.001597;NP=1;PC=0.065 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:C,T:6:2:0:0:3,3:93,80:8.92,0.00:1.04,0.00:7.89,0.00:0.73,0.00:0.79,0.00:0.73,0.00:40,60:195.3,54.3:0,0:0,0:108,110:42,9:27,1:chr2 g.133032825T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133032827 rs202150330 G A 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.074 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:6:2:0:0:3,3:105,84:10.13,0.00:1.69,0.00:8.44,0.00:0.73,0.00:0.79,0.00:0.73,0.00:40,60:186.7,54.3:0,0:0,0:109,111:41,8:27,1:chr2 g.133032826G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133032833 rs12622596 G T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;PC=0.105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:G,T:5:1:0:0:2,3:56,100:0.00,9.97:0.00,1.73:0.00,8.24:0.00,0.78:0.00,0.73:0.00,0.78:60,40:69.5,186.7:0,0:0,0:133,115:18,35:16,27:-,chr2 g.133032832G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 133040466 rs73958541 C A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,C:5:5:0:0:4,1:133,35:14.12,0.00:6.71,0.00:7.41,0.00:0.96,0.00:0.96,0.00:1.00,0.00:60,60:101.0,0.0:0,0:0,0:43,39:66,111:18,0:chr2 g.133040465C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133066591 rs78544491 AG A 21 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=198;PC=0.152;Gene=ZNF806/NM_001304449.1/1;CC=c.-43-247delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:14:14:0:7:7,7:198,218:0.00,20.93:0.00,20.93:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:36.3,50.7:0,0:0,0:45,17:106,132:16,6:-,XM_001724242.4(ZNF806) c.117-247delG:-,NOT_FOUND:-,NOT_FOUND 2 133066642 rs2598822 T C 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.-43-197T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:15,10:503,306:50.18,0.00:50.18,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.5,25.4:0,0:0,0:31,74:119,76:20,28:XM_001724242.4(ZNF806) c.117-197T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133066724 rs74463227 AGAT A 38 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1417;Gene=ZNF806/NM_001304449.1/1;CC=c.-43-111_-43-109delGAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGAT,A:39:39:0:14:25,14:806,426:0.00,38.22:0.00,38.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.3,29.0:0,0:0,0:40,94:111,56:30,17:-,XM_001724242.4(ZNF806) c.117-114_117-112delGAT:-,NOT_FOUND:-,NOT_FOUND 2 133066879 rs2677610 G A 273 nt VT=SNV;PN=C;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=G/0.7762,A/0.2238;PC=0.005;Gene=ZNF806/NM_001304449.1/1;CC=c.-3G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:155:110:0:0:81,74:2813,2251:273.42,0.00:131.91,0.00:141.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:68,60:41.8,6.7:0,0:0,0:74,73:71,72:25,32:XM_001724242.4(ZNF806) c.157G>A (p.Gly53Ser),-:NOT_FOUND,-:NOT_FOUND,- 2 133066897 . G . . NT END=133070441;NT GT ./. 2 133066967 rs57269088 A AGGT 95 nt VT=INS;SST=Single;DP=76;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2903;Gene=ZNF806/NM_001304449.1/1;CC=c.15+72_15+74dupGGT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGGT:76:19:32:0:44,32:1432,1022:0.00,95.01:0.00,22.16:0.00,72.86:0.00,1.00:0.00,1.00:0.00,1.00:60,68:22.3,42.0:1,0:0,0:101,101:49,50:38,17:-,XM_001724242.4(ZNF806) c.174+71_174+72insGGT:-,NOT_FOUND:-,NOT_FOUND 2 133067025 rs2459643 C G 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ZNF806/NM_001304449.1/1;CC=c.15+129C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:0:0:0:26,21:811,653:0.00,61.29:0.00,0.00:0.00,61.29:0.00,1.00:0.00,0.00:0.00,1.00:60,60:28.7,68.8:0,0:0,0:92,95:57,55:36,27:-,XM_001724242.4(ZNF806) c.174+129C>G:-,NOT_FOUND:-,NOT_FOUND 2 133067049 rs2443274 T C 133 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.0613,C/0.9387;PC=0.012;Gene=ZNF806/NM_001304449.1/1;CC=c.15+153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:99:A,C:40:0:0:0:1,39:9,1151:0.18,133.08:0.00,0.00:0.18,133.08:0.00,1.00:0.00,0.00:0.00,1.00:59,60:36.0,54.0:0,0:0,0:77,98:74,51:0,28:XM_001724242.4(ZNF806) c.174+153T>C,XM_001724242.4(ZNF806) c.174+153T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 133067122 rs2598821 A G 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.15+226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:22:0:0:0:14,7,1:444,229,12:0.00,20.43,0.19:0.00,0.00,0.00:0.00,20.43,0.19:0.00,0.97,0.00:0.00,0.00,0.00:0.00,0.97,0.00:60,60,47:31.9,72.1,95.0:0,0,0:0,0,0:107,109,46:42,40,105:34,27,0:-,XM_001724242.4(ZNF806) c.174+226A>G:-,NOT_FOUND:-,NOT_FOUND 2 133070125 rs2459644 A C 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.16-317A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,C:19:19:0:0:7,12:189,403:0.00,40.62:0.00,40.62:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:29.9,63.0:0,0:0,0:14,24:136,113:3,19:-,XM_001724242.4(ZNF806) c.175-317A>C:-,NOT_FOUND:-,NOT_FOUND 2 133070245 rs2459645 A G 86 nt VT=SNV;PN=T;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=0.035;Gene=ZNF806/NM_001304449.1/1;CC=c.16-197A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:67:0:0:37,30:1063,922:0.00,86.48:0.00,86.48:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.4,70.1:0,0:0,0:58,37:90,112:33,25:-,XM_001724242.4(ZNF806) c.175-197A>G:-,NOT_FOUND:-,NOT_FOUND 2 133070318 rs2459646 A C 200 nt VT=SNV;PN=A;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ZNF806/NM_001304449.1/1;CC=c.16-124A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:141:133:0:0:76,65:2393,2111:0.00,199.81:0.00,166.71:0.00,33.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,58.3:0,0:0,0:40,37:109,114:27,29:-,XM_001724242.4(ZNF806) c.175-124A>C:-,NOT_FOUND:-,NOT_FOUND 2 133070449 rs2459647 T C 534 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=324;DB;DBA=NA;PAF=NA;PC=0.975;Gene=ZNF806/NM_001304449.1/1;CC=c.23T>C;ProtCh=p.V8A;VC=Missense;DM=ZNF806/KRAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:324:247:0:0:168,156:5514,4783:534.11,0.00:331.08,0.00:203.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.0,7.6:0,0:0,0:81,73:65,74:33,33:XM_001724242.4(ZNF806) c.182T>C (p.Val61Ala),-:NOT_FOUND,-:NOT_FOUND,- 2 133070508 rs7340197 G T 540 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=314;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.82G>T;ProtCh=p.A28S;VC=Missense;DM=ZNF806/KRAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:314:197:0:0:2,140,172:21,4694,5513:-0.22,0.00,540.05:-0.09,0.00,270.87:-0.12,0.00,269.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:116.5,7.4,106.5:0,0,0:0,0,0:74,85,70:76,63,78:7,37,38:-,XM_001724242.4(ZNF806) c.241G>T (p.Ala81Ser):-,NOT_FOUND:-,NOT_FOUND 2 133070531 rs7340370 C T 556 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=300;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.105C>T;ProtCh=p.D35=;VC=Silent;DM=ZNF806/KRAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:300:160:0:0:1,129,170:11,3889,5640:-0.13,0.00,556.49:-0.05,0.00,230.76:-0.08,0.00,325.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.0,11.4,108.5:0,0,0:0,0,0:54,86,65:96,62,81:0,36,28:-,XM_001724242.4(ZNF806) c.264C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 133070556 rs7355766 T C 551 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=295;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.130T>C;ProtCh=p.F44L;VC=Missense;DM=ZNF806/KRAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:295:139:0:0:167,1,127:5582,12,3984:550.61,-0.11,0.00:204.60,-0.04,0.00:346.01,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:106.8,22.0,11.5:0,0,0:0,0,0:80,21,82:67,130,60:29,0,34:XM_001724242.4(ZNF806) c.289T>C (p.Phe97Leu),-:NOT_FOUND,-:NOT_FOUND,- 2 133070569 . G . . NT END=133074681;NT GT ./. 2 133070656 rs2459648 T G 271 nt VT=SNV;PN=A;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=NA;PC=0.015;Gene=ZNF806/NM_001304449.1/1;CC=c.142+88T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:143:35:0:0:83,60:2740,1838:271.38,0.00:79.04,0.00:192.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:89.5,10.6:0,0:0,0:89,98:60,49:37,27:XM_001724242.4(ZNF806) c.301+88T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 133070685 rs2443273 C T 198 nt VT=SNV;PN=C;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.142+117C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:113:29:0:0:49,64:1573,2012:0.00,198.19:0.00,68.66:0.00,129.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,89.0:0,0:0,0:104,94:47,56:28,33:-,XM_001724242.4(ZNF806) c.301+117C>T:-,NOT_FOUND:-,NOT_FOUND 2 133070766 rs2598814 A G 118 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.142+198A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:6:0:0:16,36:465,1143:0.00,117.54:0.00,8.19:0.00,109.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.4,90.9:0,0:0,0:103,92:46,51:38,43:-,XM_001724242.4(ZNF806) c.301+198A>G:-,NOT_FOUND:-,NOT_FOUND 2 133070825 rs2598813 C T 65 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.142+257C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:0:0:0:11,21:300,642:0.00,65.26:0.00,0.00:0.00,65.26:0.00,1.00:0.00,0.00:0.00,1.00:60,60:28.5,80.6:0,0:0,0:74,97:74,52:52,24:-,XM_001724242.4(ZNF806) c.301+257C>T:-,NOT_FOUND:-,NOT_FOUND 2 133070921 rs6430176 C T 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ZNF806/NM_001304449.1/1;CC=c.142+353C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,T:11:0:0:0:5,6:153,201:0.00,19.68:0.00,0.00:0.00,19.68:0.00,0.98:0.00,0.00:0.00,0.98:60,60:17.4,67.3:0,0:0,0:114,104:37,46:4,32:-,XM_001724242.4(ZNF806) c.301+353C>T:-,NOT_FOUND:-,NOT_FOUND 2 133070978 rs2598812 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ZNF806/NM_001304449.1/1;CC=c.142+410T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:63.5:0:0:108:42:23:XM_001724242.4(ZNF806) c.301+410T>C,XM_001724242.4(ZNF806) c.301+410T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 133074469 rs7355256 G A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.143-213G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,C,G:11:11:0:0:3,1,7:92,13,198:7.97,0.50,0.00:7.97,0.50,0.00:0.00,0.00,0.00:0.60,0.00,0.00:0.60,0.00,0.00:0.00,0.00,0.00:60,60,60:66.3,77.0,8.3:0,0,0:0,0,0:40,10,62:111,141,88:2,0,27:XM_001724242.4(ZNF806) c.302-213G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 133074476 rs7355257 G C 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ZNF806/NM_001304449.1/1;CC=c.143-206G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:13:13:0:0:6,7:191,204:18.08,0.00:18.08,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:56.3,8.3:0,0:0,0:18,69:132,81:14,27:XM_001724242.4(ZNF806) c.302-206G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 133074568 rs74918545 TTTAA T 100 nt VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=1098;PC=0.003;Gene=ZNF806/NM_001304449.1/1;CC=c.143-113_143-110delTTAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTAA,T:44:44:0:31:13,31:433,969:0.00,100.07:0.00,100.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.0,33.0:0,0:0,0:67,45:84,106:13,25:-,XM_001724242.4(ZNF806) c.302-113_302-110delTTAA:-,NOT_FOUND:-,NOT_FOUND 2 133074683 rs7355726 T C 252 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=0.129;Gene=ZNF806/NM_001304449.1/1;CC=c.144T>C;ProtCh=p.D48=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:131:120:0:0:1,80,1,49:10,2510,11,1554:-0.09,251.90,-0.07,0.00:-0.05,221.38,-0.03,0.00:-0.04,30.53,-0.04,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:65.0,134.4,77.0,21.4:0,0,0,0:0,0,0,0:105,52,28,46:32,99,122,105:0,35,0,22:XM_001724242.4(ZNF806) c.303T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 133074718 rs4953961 A C 283 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ZNF806/NM_001304449.1/1;CC=c.179A>C;ProtCh=p.K60T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:167:141:0:0:76,91:2370,2900:0.00,283.39:0.00,204.01:0.00,79.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.3,153.4:0,0:0,0:57,52:92,99:28,30:-,XM_001724242.4(ZNF806) c.338A>C (p.Lys113Thr):-,NOT_FOUND:-,NOT_FOUND 2 133074727 rs74763985 T G 325 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=174;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ZNF806/NM_001304449.1/1;CC=c.188T>G;ProtCh=p.I63S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:174:148:0:0:98,76:3297,2414:324.65,0.00:221.12,0.00:103.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:153.5,25.3:0,0:0,0:58,64:91,85:30,30:XM_001724242.4(ZNF806) c.347T>G (p.Ile116Ser),-:NOT_FOUND,-:NOT_FOUND,- 2 133074745 rs7355686 A T 344 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=197;DB;DBA=NA;PAF=NA;PC=0.367;Gene=ZNF806/NM_001304449.1/1;CC=c.206A>T;ProtCh=p.E69V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:197:165:0:0:85,112:2732,3495:0.00,344.37:0.00,237.47:0.00,106.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.7,149.5:0,0:0,0:57,53:91,97:31,26:-,XM_001724242.4(ZNF806) c.365A>T (p.Glu122Val):-,NOT_FOUND:-,NOT_FOUND 2 133074759 rs62169564 A C 382 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=209;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ZNF806/NM_001304449.1/1;CC=c.220A>C;ProtCh=p.K74Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:209:170:0:0:89,120:2791,3865:0.00,381.66:0.00,253.95:0.00,127.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.5,147.7:0,0:0,0:68,65:81,83:40,30:-,XM_001724242.4(ZNF806) c.379A>C (p.Lys127Gln):-,NOT_FOUND:-,NOT_FOUND 2 133074781 rs111509913 G A 133 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=230;DB;DBA=NA;PAF=G/0.9878,A/0.01218;NP=251;Gene=ZNF806/NM_001304449.1/1;CC=c.242G>A;ProtCh=p.R81Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:230:180:0:0:48,182:1608,5399:132.64,0.00:98.12,0.00:34.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,98.1:0,0:0,0:71,59:78,88:33,31:XM_001724242.4(ZNF806) c.401G>A (p.Arg134Gln),-:NOT_FOUND,-:NOT_FOUND,- 2 133074851 rs7355688 A T 436 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=261;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.312A>T;ProtCh=p.V104=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:261:173:0:0:119,142:3738,4462:0.00,435.73:0.00,206.26:0.00,229.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,99.3:0,0:0,0:78,81:70,65:39,36:-,XM_001724242.4(ZNF806) c.471A>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 133074876 rs7355689 A G 418 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=267;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.337A>G;ProtCh=p.M113V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:267:179:0:0:129,138:4193,4323:0.00,417.66:0.00,186.88:0.00,230.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,71.6:0,0:0,0:67,72:83,77:41,38:-,XM_001724242.4(ZNF806) c.496A>G (p.Met166Val):-,NOT_FOUND:-,NOT_FOUND 2 133075027 rs7349198 G A 413 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=273;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.488G>A;ProtCh=p.G163E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:273:174:0:0:136,136,1:4300,4423,17:412.97,0.00,-0.04:218.32,0.00,-0.13:194.65,0.00,0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:61.3,5.6,66.0:0,0,0:0,0,0:97,83,78:53,66,72:27,35,0:XM_001724242.4(ZNF806) c.647G>A (p.Gly216Glu),-:NOT_FOUND,-:NOT_FOUND,- 2 133075069 rs72991565 A G 139 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=226;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.530A>G;ProtCh=p.H177R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:226:134:0:0:172,1,53:5626,13,1672:0.00,-0.21,139.16:0.00,-0.14,60.19:0.00,-0.07,78.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.0,13.0,89.0:0,0,0:0,0,0:84,72,70:60,79,75:36,0,42:-,XM_001724242.4(ZNF806) c.689A>G (p.His230Arg):-,NOT_FOUND:-,NOT_FOUND 2 133075104 rs7349364 C T 326 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=228;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.565C>T;ProtCh=p.R189C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:228:115:0:0:1,121,106:9,3693,3432:-0.18,0.00,325.72:-0.07,0.00,107.80:-0.11,0.00,217.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:198.0,5.9,79.4:0,0,0:0,0,0:62,76,65:78,74,84:0,37,40:-,XM_001724242.4(ZNF806) c.724C>T (p.Arg242Cys):-,NOT_FOUND:-,NOT_FOUND 2 133075207 rs7349365 C T 326 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=242;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.668C>T;ProtCh=p.A223V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:242:122:0:0:134,108:4158,3465:0.00,325.90:0.00,106.51:0.00,219.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,74.6:0,0:0,0:78,79:67,64:42,37:-,XM_001724242.4(ZNF806) c.827C>T (p.Ala276Val):-,NOT_FOUND:-,NOT_FOUND 2 133075282 rs7349446 T C 274 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=210;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.743T>C;ProtCh=p.V248A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:210:122:0:0:1,92,117:12,2927,3554:-0.17,274.30,0.00:-0.13,127.33,0.00:-0.04,146.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:26.0,120.5,10.3:0,0,0:0,0,0:7,71,81:143,72,67:0,37,31:XM_001724242.4(ZNF806) c.902T>C (p.Val301Ala),-:NOT_FOUND,-:NOT_FOUND,- 2 133075298 rs75737268 T C 272 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=211;DB;DBA=NA;PAF=NA;PC=0.051;Gene=ZNF806/NM_001304449.1/1;CC=c.759T>C;ProtCh=p.H253=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:211:128:0:0:92,119:2913,3742:272.45,0.00:130.43,0.00:142.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:129.2,9.2:0,0:0,0:75,84:67,62:33,35:XM_001724242.4(ZNF806) c.918T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 133075364 rs7349447 T C 242 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=201;DB;DBA=NA;PAF=NA;NP=2343;Gene=ZNF806/NM_001304449.1/1;CC=c.825T>C;ProtCh=p.I275=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:201:126:0:0:1,79,121:14,2630,3829:-0.13,242.43,0.00:-0.13,141.45,0.00:0.00,100.97,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:116.0,161.9,5.9:0,0,0:0,0,0:7,82,59:143,68,90:0,39,30:XM_001724242.4(ZNF806) c.984T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 133075365 rs7349215 G A 237 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=200;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.826G>A;ProtCh=p.V276I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:200:127:0:0:78,122:2575,4011:236.60,0.00:146.34,0.00:90.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:162.5,7.5:0,0:0,0:82,70:67,80:36,37:XM_001724242.4(ZNF806) c.985G>A (p.Val329Ile),-:NOT_FOUND,-:NOT_FOUND,- 2 133075386 rs7349216 G A 275 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=212;DB;DBA=NA;PAF=NA;PC=0.954;Gene=ZNF806/NM_001304449.1/1;CC=c.847G>A;ProtCh=p.G283R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:212:140:0:0:89,2,121:2945,22,3871:274.83,-0.24,0.00:170.01,-0.14,0.00:104.82,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:149.0,117.0,6.4:0,0,0:0,0,0:65,76,69:86,65,82:43,47,29:XM_001724242.4(ZNF806) c.1006G>A (p.Gly336Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 133075409 rs7349448 T C 267 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=211;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.870T>C;ProtCh=p.H290=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:211:145:0:0:91,120:2863,3756:267.10,0.00:171.29,0.00:95.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:130.3,7.3:0,0:0,0:57,74:90,74:36,29:XM_001724242.4(ZNF806) c.1029T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 133075475 rs111420960 C T 146 idl VT=SNV;PN=A;NN=A;SST=Single;DP=250;DB;DBA=NA;PAF=NA;PC=0.779;Gene=ZNF806/NM_001304449.1/1;CC=c.936C>T;ProtCh=p.D312=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:250:171:0:0:192,1,57:6445,25,1770:0.00,0.35,146.06:0.00,0.49,78.32:0.00,-0.15,67.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.6,186.0,90.6:59,0,54:0,0,0:57,110,75:91,31,75:32,0,39:-,XM_001724242.4(ZNF806) c.1095C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 133075478 rs111944984 TC T 339 PASS VT=DEL;SST=Single;DP=246;DB;DBA=NA;PAF=NA;NP=3471;PC=0.893;Gene=ZNF806/NM_001304449.1/1;CC=c.942delC;ProtCh=p.Y315Tfs*152;VC=FrameShiftDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TC,T:246:169:0:114:2,132,112:43,4222,3588:1.31,0.00,339.16:1.45,0.00,214.20:-0.14,0.00,124.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:129.5,10.5,66.0:0,0,0:0,0,0:124,61,66:22,88,79:11,38,35:-,XM_001724242.4(ZNF806) c.1099C[2] (p.Tyr368Thrfs*248):-,NOT_FOUND:-,NOT_FOUND 2 133075602 rs7340473 A C 308 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=286;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1063A>C;ProtCh=p.R355=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:286:176:0:0:176,110:5729,3382:0.00,307.82:0.00,142.39:0.00,165.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,148.3:0,0:0,0:62,91:88,57:40,38:-,XM_001724242.4(ZNF806) c.1222A>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 133075612 rs11491243 C T 328 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=293;DB;DBA=NA;PAF=NA;NP=445;PC=0.815;Gene=ZNF806/NM_001304449.1/1;CC=c.1073C>T;ProtCh=p.P358L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:293:190:0:0:186,107:6063,3603:0.00,327.87:0.00,163.98:0.00,163.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,168.4:0,0:0,0:65,83:83,65:40,44:-,XM_001724242.4(ZNF806) c.1232C>T (p.Pro411Leu):-,NOT_FOUND:-,NOT_FOUND 2 133075615 rs76315261 G C 336 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=293;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1076G>C;ProtCh=p.C359S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:293:191:0:0:1,110,180,2:10,3674,6034,58:-0.20,336.28,0.00,1.96:-0.13,164.83,0.00,0.68:-0.08,171.45,0.00,1.28:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:143.0,171.2,5.2,176.0:0,0,0,0:0,0,0,0:33,66,72,133:117,84,76,16:0,46,42,1:XM_001724242.4(ZNF806) c.1235G>C (p.Cys412Ser),-:NOT_FOUND,-:NOT_FOUND,- 2 133075639 rs7340191 G T 301 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=287;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ZNF806/NM_001304449.1/1;CC=c.1100G>T;ProtCh=p.G367V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:287:198:0:0:177,110:5601,3320:0.00,301.38:0.00,153.39:0.00,147.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,173.2:1,0:0,0:64,59:81,89:34,33:-,XM_001724242.4(ZNF806) c.1259G>T (p.Gly420Val):-,NOT_FOUND:-,NOT_FOUND 2 133075664 rs7340499 T G 365 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=306;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1125T>G;ProtCh=p.D375E;VC=Missense;DM=ZNF806/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:306:200:0:0:120,186:3965,5923:364.73,0.00:199.62,0.00:165.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:162.3,4.6:0,0:0,0:60,70:90,71:32,32:XM_001724242.4(ZNF806) c.1284T>G (p.Asp428Glu),-:NOT_FOUND,-:NOT_FOUND,- 2 133075674 rs7340192 G C 346 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=309;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1135G>C;ProtCh=p.G379R;VC=Missense;DM=ZNF806/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:309:206:0:0:119,190:3788,5952:346.07,0.00:199.95,0.00:146.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:158.6,5.0:0,0:0,0:68,72:81,72:33,32:XM_001724242.4(ZNF806) c.1294G>C (p.Gly432Arg),-:NOT_FOUND,-:NOT_FOUND,- 2 133075726 rs2598810 A G 439 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=346;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ZNF806/NM_001304449.1/1;CC=c.1187A>G;ProtCh=p.E396G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:346:243:0:0:195,151:6333,4696:0.00,438.66:0.00,273.76:0.00,164.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,99.5:0,0:0,0:72,67:75,79:39,38:-,XM_001724242.4(ZNF806) c.1346A>G (p.Glu449Gly):-,NOT_FOUND:-,NOT_FOUND 2 133075904 rs113311843 C CA 434 PASS VT=INS;SST=Single;DP=310;DB;DBA=NA;PAF=NA;NP=3192;Gene=ZNF806/NM_001304449.1/1;CC=c.1367dupA;ProtCh=p.N456Kfs*85;VC=FrameShiftIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:310:174:146:0:164,146:5359,4570:0.00,433.61:0.00,191.44:0.00,242.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,8.1:0,0:0,0:72,71:71,76:38,32:-,XM_001724242.4(ZNF806) c.1525N>A (p.?509K):-,NOT_FOUND:-,NOT_FOUND 2 133076032 rs2598809 T G 341 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=253;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1493T>G;ProtCh=p.F498C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:253:141:0:0:111,142:3634,4557:340.93,0.00:132.99,0.00:207.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:74.5,7.0:0,0:0,0:89,71:57,73:39,33:XM_001724242.4(ZNF806) c.1653T>G (p.Phe551Leu),-:NOT_FOUND,-:NOT_FOUND,- 2 133076048 rs2598808 A G 307 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=239;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1509A>G;ProtCh=p.A503=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:239:132:0:0:135,1,103:4303,13,3292:0.00,-0.15,307.46:0.00,-0.11,120.68:0.00,-0.03,186.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:7.1,32.0,80.1:0,0,0:0,0,0:78,10,79:68,140,63:30,0,43:-,XM_001724242.4(ZNF806) c.1669A>G (p.Asn557Asp):-,NOT_FOUND:-,NOT_FOUND 2 133076117 rs111405036 CA C 240 PASS VT=DEL;SST=Single;DP=208;DB;DBA=NA;PAF=NA;NP=3449;PC=0.004;Gene=ZNF806/NM_001304449.1/1;CC=c.1580delA;ProtCh=p.N527Mfs*36;VC=FrameShiftDel;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,C:208:111:0:82:1,125,82:9,4037,2614:-0.23,0.00,240.20:-0.08,0.00,100.98:-0.15,0.00,139.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:118.0,5.9,89.9:0,0,0:0,0,0:123,78,74:14,73,73:0,38,35:-,XM_001724242.4(ZNF806) c.1738A>C (p.Asn580His):-,NOT_FOUND:-,NOT_FOUND 2 133076155 rs2677622 G A 246 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=207;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1616G>A;ProtCh=p.C539Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:207:99:0:0:83,2,122:2666,28,4011:246.08,-0.06,0.00:79.75,0.07,0.00:166.33,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:104.1,189.5,4.3:0,0,0:0,0,0:78,61,72:66,67,71:41,10,39:XM_001724242.4(ZNF806) c.1775G>A (p.Cys592Tyr),-:NOT_FOUND,-:NOT_FOUND,- 2 133076206 rs2598807 C T 259 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=211;DB;DBA=NA;PAF=NA;Gene=ZNF806/NM_001304449.1/1;CC=c.1667C>T;ProtCh=p.A556V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:211:113:0:0:2,122,1,86:25,3920,8,2787:-0.16,0.00,-0.23,258.52:-0.21,0.00,-0.11,107.80:0.05,0.00,-0.12,150.72:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:15.5,3.6,168.0,126.2:0,0,0,0:0,0,0,0:3,75,5,68:146,72,145,83:1,38,0,35:-,XM_001724242.4(ZNF806) c.1826C>T (p.Ala609Val):-,NOT_FOUND:-,NOT_FOUND 2 133076221 rs7340213 G A 264 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=209;DB;DBA=NA;PAF=NA;PC=0.992;Gene=ZNF806/NM_001304449.1/1;CC=c.1682G>A;ProtCh=p.R561H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:209:115:0:0:86,123:2841,3899:263.67,0.00:117.93,0.00:145.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:130.8,5.5:0,0:0,0:74,69:73,76:35,36:XM_001724242.4(ZNF806) c.1841G>A (p.Arg614His),-:NOT_FOUND,-:NOT_FOUND,- 2 133076229 rs2598806 A G 283 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=206;DB;DBA=NA;PAF=NA;PC=0.774;Gene=ZNF806/NM_001304449.1/1;CC=c.1690A>G;ProtCh=p.K564E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:206:115:0:0:116,2,88:3676,23,3012:0.00,-0.22,282.61:0.00,-0.21,126.55:0.00,-0.01,156.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.7,90.0,131.6:0,0,0:0,0,0:73,28,72:75,122,78:34,0,35:-,XM_001724242.4(ZNF806) c.1849A>G (p.Lys617Glu):-,NOT_FOUND:-,NOT_FOUND 2 133076310 . A . . NT END=133174615;NT GT ./. 2 133076311 rs7340138 T C 162 nt VT=SNV;PN=A;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=NA;PC=0.232;Gene=ZNF806/NM_001304449.1/1;CC=c.*2T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:149:71:0:0:1,59,89:11,1776,2918:-0.18,162.41,0.00:-0.08,71.82,0.00:-0.10,90.58,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:75.0,117.0,10.3:0,0,0:0,0,0:50,102,91:101,42,54:0,27,30:chr2 g.133076310T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133076366 rs13016179 T C 99 nt VT=SNV;PN=A;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:83:18:0:0:33,50:1077,1523:99.27,0.00:12.32,0.00:86.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:92.3,11.9:0,0:0,0:101,109:50,38:35,23:chr2 g.133076365T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133076388 rs373122924 G A 44 nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9764,A/0.02356;NP=169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:6:0:0:17,53:525,1674:43.77,0.00:1.33,0.00:42.44,0.00:1.00,0.00:0.79,0.00:1.00,0.00:60,60:33.5,54.4:0,0:0,0:96,92:55,59:27,43:chr2 g.133076387G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133076425 rs13033462 G A 75 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:0:0:0:25,26:786,880:75.17,0.00:0.00,0.00:75.17,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:99.2,19.5:0,0:0,0:72,92:78,58:31,34:chr2 g.133076424G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133076469 rs13035030 C T 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:0:0:0:17,17:494,574:0.00,55.28:0.00,0.00:0.00,55.28:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.3,92.5:0,0:0,0:101,104:50,47:22,14:-,chr2 g.133076468C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 133076662 rs62169574 T G 11 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:G,T:4:0:0:0:3,1:101,33:10.55,0.00:0.00,0.00:10.55,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:40.0,0.0:1,0:0,0:144,145:7,6:0,0:chr2 g.133076661T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 133174764 rs2241764 C T 260 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=190;DB;DBA=NA;PAF=C/0.6218,T/0.3782;PC=1.000;Gene=GPR39/NM_001508.2/1;CC=c.149C>T;ProtCh=p.A50V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:190:126:0:0:1,102,87:11,3300,2747:-0.15,0.00,259.53:-0.05,0.00,128.85:-0.11,0.00,130.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:75.0,7.0,38.5:0,0,0:0,0,0:122,83,77:23,64,73:0,40,36:-,NM_001508.2(GPR39) c.149C>T (p.Ala50Val):-,0.36:-,0.385207 2 133174999 rs2241763 A G 310 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=233;DB;DBA=NA;PAF=A/0.6112,G/0.3888;PC=0.053;Gene=GPR39/NM_001508.2/1;CC=c.384A>G;ProtCh=p.T128=;VC=Silent;DM=GPR39/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:233:158:0:0:124,108,1:4061,3290,25:0.00,310.42,0.46:0.00,149.61,0.57:0.00,160.81,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.4,38.9,174.0:0,0,0:0,0,0:78,60,148:67,84,3:39,42,0:-,NM_001508.2(GPR39) c.384A>G (p.(=)):-,0.37:-,0.397124 2 133175472 . G . . NT END=133402673;NT GT ./. 2 133175524 rs34879126 G A 164 nt VT=SNV;PN=C;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.88,A/0.12;Gene=GPR39/NM_001508.2/1;CC=c.856+53G>A;VC=Intron;DM=GPR39/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:53:0:0:58,61:1723,1876:164.05,0.00:51.36,0.00:112.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,3.7:0,0:0,0:108,98:40,51:30,27:NM_001508.2(GPR39) c.856+53G>A,-:0.11,-:NOT_FOUND,- 2 133319150 . TAC T 14 rn VT=DEL;SST=Single;DP=6;NP=1;Gene=GPR39/NM_001508.2/1;CC=c.857-83486_857-83485delCA;VC=Intron;DM=GPR39/7tm_1;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:TAC,T:6:5:0:4:2,4:63,133:0.00,13.55:0.00,8.20:0.00,5.35:0.00,0.93:0.00,0.99:0.00,0.91:60,60:17.0,5.8:0,0:0,0:79,67:70,68:41,11:-,NM_001508.2(GPR39) c.857-83523_857-83522delAC:-,NOT_FOUND:-,NOT_FOUND 2 133403180 . A . . NT END=133403617;NT GT ./. 2 133403854 . C . . NT END=133425972;NT GT ./. 2 133425786 rs371322767 TTAACTC T 47 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TTAACTC/0.5369,T/0.4631;DB;DBA=NA;PAF=TTAACTC/0.5369,T/0.4631;NP=435;PC=1.000;Gene=LYPD1/NM_144586.5/0;CC=c.190+181_190+186delGAGTTA;VC=Intron;Gene=LYPD1/NM_001077427.2/1;CC=c.34+181_34+186delGAGTTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:13:13:407:46.90:46.90:0.00:1.00:1.00:0.00:60:19.2:0:0:38:113:16:NM_144586.5(LYPD1) c.190+181_190+186delGAGTTA,NM_144586.5(LYPD1) c.190+181_190+186delGAGTTA:0.51,0.51:NOT_FOUND,NOT_FOUND 2 133425912 rs2709533 C T 306 nt VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.5068,T/0.4932;Gene=LYPD1/NM_144586.5/0;CC=c.190+61G>A;VC=Intron;Gene=LYPD1/NM_001077427.2/1;CC=c.34+61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:82:75:0:0:82:2670:305.93:251.96:53.97:1.00:1.00:1.00:60:43.3:0:0:55:94:28:NM_144586.5(LYPD1) c.190+61G>A,NM_144586.5(LYPD1) c.190+61G>A:0.54,0.54:NOT_FOUND,NOT_FOUND 2 133426111 . C . . NT END=133427419;NT GT ./. 2 133426183 rs2709532 G C 282 nt VT=SNV;PN=C;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.5048,C/0.4952;Gene=LYPD1/NM_144586.5/0;CC=c.53-73C>G;VC=Intron;Gene=LYPD1/NM_001077427.2/1;CC=c.-104-73C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:78:34:0:0:78:2451:282.17:67.97:214.20:1.00:1.00:1.00:60:42.7:0:0:96:44:27:NM_144586.5(LYPD1) c.53-73C>G,NM_144586.5(LYPD1) c.53-73C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 2 133427681 . C . . NT END=133430596;NT GT ./. 2 133430879 . C . . NT END=133483199;NT GT ./. 2 133483333 . C . . NT END=133486388;NT GT ./. 2 133486526 . C . . NT END=133489309;NT GT ./. 2 133489401 rs17397142 A G 209 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=A/0.9069,G/0.09305;Gene=NCKAP5/NM_207363.2/1;CC=c.5352T>C;ProtCh=p.D1784=;VC=Silent;Gene=NCKAP5/NM_207481.3/0;CC=c.1395T>C;ProtCh=p.D465=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:124:90:0:0:58,66:1838,2143:0.00,208.52:0.00,108.09:0.00,100.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,41.7:0,0:0,0:68,67:82,75:34,27:-,NM_207363.2(NCKAP5) c.5352T>C (p.(=)):-,0.13:-,0.123619 2 133489601 rs56284623 A G 139 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.8435,G/0.1565,T/.;PC=0.001;Gene=NCKAP5/NM_207363.2/1;CC=c.5152T>C;ProtCh=p.L1718=;VC=Silent;Gene=NCKAP5/NM_207481.3/0;CC=c.1195T>C;ProtCh=p.L399=;VC=Silent;DM=NCKAP5/NCKAP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:88:38:0:0:44,43,1:1359,1443,8:0.00,138.65,-0.15:0.00,27.33,-0.01:0.00,111.32,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:14.6,35.5,194.0:0,0,0:0,0,0:64,100,84:77,51,57:25,32,0:-,NM_207363.2(NCKAP5) c.5152T>C (p.(=)):-,0.16:-,0.207339 2 133489625 . C . . NT END=133531388;NT GT ./. 2 133531468 . C . . NT END=133538624;NT GT ./. 2 133538803 . C . . NT END=133539512;NT GT ./. 2 133539375 rs12991144 T A 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9519,A/0.04812;PC=0.999;Gene=NCKAP5/NM_207363.2/1;CC=c.4871+138A>T;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.1093-7908A>T;VC=Intron;DM=NCKAP5/NCKAP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:23:0:0:11,13:329,421:30.94,0.00:27.40,0.00:3.54,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:57.0,1.9:0,0:0,0:42,33:108,118:36,24:NM_207363.2(NCKAP5) c.4871+138A>T,-:0.06,-:NOT_FOUND,- 2 133539460 rs6717116 A T 49 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.4633,T/0.5367;Gene=NCKAP5/NM_207363.2/1;CC=c.4871+53T>A;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.1093-7993T>A;VC=Intron;DM=NCKAP5/NCKAP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:45:43:0:0:28,17:889,543:0.00,49.44:0.00,39.69:0.00,9.75:0.00,1.00:0.00,1.00:0.00,0.97:60,60:3.3,57.5:0,0:0,0:39,63:111,88:34,29:-,NM_207363.2(NCKAP5) c.4871+53T>A:-,0.56:-,NOT_FOUND 2 133539566 rs6730282 G A 152 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.4641,A/0.5359;PC=1.000;Gene=NCKAP5/NM_207363.2/1;CC=c.4818C>T;ProtCh=p.H1606=;VC=Silent;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+8030C>T;VC=Intron;DM=NCKAP5/NCKAP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:118:95:0:0:54,64:1618,2157:152.15,0.00:103.68,0.00:48.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,7.7:0,0:0,0:47,54:101,87:29,20:NM_207363.2(NCKAP5) c.4818C>T (p.(=)),-:0.56,-:0.510405,- 2 133540605 rs13016342 G T 203 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.879,T/0.121;PC=1.000;Gene=NCKAP5/NM_207363.2/1;CC=c.3779C>A;ProtCh=p.P1260Q;VC=Missense;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+6991C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:139:88:0:0:71,68:2251,2126:0.00,203.13:0.00,75.69:0.00,127.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,39.2:0,0:0,0:85,78:59,72:34,37:-,NM_207363.2(NCKAP5) c.3779C>A (p.Pro1260Gln):-,0.12:-,0.168289 2 133541444 rs12691829 T C 204 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=T/0.2825,C/0.7175;PC=0.001;Gene=NCKAP5/NM_207363.2/1;CC=c.2940A>G;ProtCh=p.P980=;VC=Silent;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+6152A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:154:110:0:0:74,80:2149,2587:203.68,0.00:127.43,0.00:76.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.1,7.1:0,0:0,0:65,59:81,89:38,28:NM_207363.2(NCKAP5) c.2940A>G (p.(=)),-:0.71,-:0.628798,- 2 133541454 rs12691830 A G 239 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=160;DB;DBA=NA;PAF=A/0.2951,G/0.7049;PC=0.080;Gene=NCKAP5/NM_207363.2/1;CC=c.2930T>C;ProtCh=p.I977T;VC=Missense;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+6142T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:160:113:0:0:84,76:2637,2510:0.00,239.19:0.00,144.77:0.00,94.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,77.9:0,0:0,0:62,68:84,78:33,38:-,NM_207363.2(NCKAP5) c.2930T>C (p.Ile977Thr):-,0.7:-,0.606635 2 133541575 rs12611515 C T 252 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=176;DB;DBA=NA;PAF=C/0.6272,T/0.3728;PC=1.000;Gene=NCKAP5/NM_207363.2/1;CC=c.2809G>A;ProtCh=p.V937I;VC=Missense;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+6021G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:176:103:0:0:92,84:2851,2646:0.00,251.69:0.00,121.03:0.00,130.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,53.2:0,0:0,0:73,76:70,72:33,33:-,NM_207363.2(NCKAP5) c.2809G>A (p.Val937Ile):-,0.39:-,0.336779 2 133542014 rs12616282 T C 200 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=T/0.2915,C/0.7085;Gene=NCKAP5/NM_207363.2/1;CC=c.2370A>G;ProtCh=p.A790=;VC=Silent;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+5582A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:134:90:0:0:65,1,68:2092,10,2137:200.11,-0.13,0.00:112.73,-0.03,0.00:87.38,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.8,88.0,12.6:0,0,0:0,0,0:82,119,50:69,31,97:34,0,32:NM_207363.2(NCKAP5) c.2370A>G (p.(=)),-:0.7,-:0.612342,- 2 133542545 rs10191147 G A 217 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=178;DB;DBA=NA;PAF=G/0.6464,A/0.3536;Gene=NCKAP5/NM_207363.2/1;CC=c.1839C>T;ProtCh=p.S613=;VC=Silent;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+5051C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:178:116:0:0:74,1,103:2335,5,3071:216.55,-0.25,0.00:123.02,-0.14,0.00:93.53,-0.11,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:65.6,85.0,12.7:0,0,0:0,0,0:71,78,52:78,53,94:44,0,37:NM_207363.2(NCKAP5) c.1839C>T (p.(=)),-:0.36,-:0.312572,- 2 133542585 rs17325719 C G 206 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=187;DB;DBA=NA;PAF=C/0.9181,G/0.08187;PC=1.000;Gene=NCKAP5/NM_207363.2/1;CC=c.1799G>C;ProtCh=p.S600T;VC=Missense;Gene=NCKAP5/NM_207481.3/0;CC=c.1092+5011G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:187:108:0:0:1,114,71,1:10,3760,2259,8:-0.20,0.00,206.20,-0.22:-0.11,0.00,92.19,-0.08:-0.08,0.00,114.01,-0.13:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:140.0,11.1,66.2,56.0:0,0,0,0:0,0,0,0:15,71,68,45:136,76,81,106:0,29,36,0:-,NM_207363.2(NCKAP5) c.1799G>C (p.Ser600Thr):-,0.09:-,0.131605 2 133543292 . C . . NT END=133547595;NT GT ./. 2 133547779 . C . . NT END=133554200;NT GT ./. 2 133554288 rs1868076 A G 54 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.3093,G/0.6907;PC=0.992;Gene=NCKAP5/NM_207363.2/1;CC=c.822T>C;ProtCh=p.R274=;VC=Silent;Gene=NCKAP5/NM_207481.3/0;CC=c.822T>C;ProtCh=p.R274=;VC=Silent;Gene=MIR7853/NR_107007.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:23:0:0:25,17:778,580:0.00,53.82:0.00,15.06:0.00,38.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.9,42.1:0,0:0,0:95,83:44,56:19,37:-,NM_207363.2(NCKAP5) c.822T>C (p.(=)):-,0.69:-,0.597481 2 133554303 . C . . NT END=133618064;NT GT ./. 2 133618185 . C . . NT END=133626508;NT GT ./. 2 133618363 rs1447547 T C 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.01797,C/0.982;PC=0.023;Gene=NCKAP5/NM_207363.2/1;CC=c.688-179A>G;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.688-179A>G;VC=Intron;Gene=MIR7853/NR_107007.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:260:30.69:0.00:30.69:1.00:0.00:1.00:60:50.8:0:0:97:53:19:NM_207363.2(NCKAP5) c.688-179A>G,NM_207363.2(NCKAP5) c.688-179A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 133618364 rs13032464 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8033,A/0.1967,T/.;PC=0.020;Gene=NCKAP5/NM_207363.2/1;CC=c.688-180C>T;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.688-180C>T;VC=Intron;Gene=MIR7853/NR_107007.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:10:0:0:0:5,5:127,131:12.05,0.00:0.00,0.00:12.05,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:53.8,47.8:0,0:0,0:91,116:59,35:14,26:NM_207363.2(NCKAP5) c.688-180C>T,-:0.21,-:NOT_FOUND,- 2 133626548 . C . . NT END=133636420;NT GT ./. 2 133626706 rs17326258 T C 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4351,C/0.5649;PC=0.005;Gene=NCKAP5/NM_207363.2/1;CC=c.649-159A>G;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.649-159A>G;VC=Intron;Gene=MIR7853/NR_107007.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,T:10:0:0:0:3,7:98,225:8.58,0.00:0.00,0.00:8.58,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:32.7,4.6:0,0:0,0:122,97:29,51:1,15:NM_207363.2(NCKAP5) c.649-159A>G,-:0.57,-:NOT_FOUND,- 2 133636490 . C . . NT END=133721292;NT GT ./. 2 133721443 . C . . NT END=133751724;NT GT ./. 2 133751813 . C . . NT END=133887549;NT GT ./. 2 133887684 . C . . NT END=133971287;NT GT ./. 2 133890053 rs373384379 G GCACA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=12;NP=2;NP=43;Gene=NCKAP5/NM_207363.2/1;CC=c.208-2371_208-2370insTGTG;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.208-2371_208-2370insTGTG;VC=Intron;Gene=MIR7853/NR_107007.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:G,GCACA,D:6:6:3:1:2,3,1:54,102,32:0.00,10.13,2.74:0.00,8.49,1.33:0.00,1.64,1.41:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.89,0.00:60,60,60:32.5,11.7,7.0:0,0,0:0,0,0:83,55,61:68,96,57:36,13,0:-,NM_207363.2(NCKAP5) c.208-2371_208-2370insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 133971352 . C . . NT END=134060608;NT GT ./. 2 133971448 rs13393624 T A 91 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.9063,A/0.09365;PC=0.142;Gene=NCKAP5/NM_207363.2/1;CC=c.144-97A>T;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.144-97A>T;VC=Intron;Gene=MIR7853/NR_107007.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:40:6:0:0:29,11:876,326:91.28,0.00:9.83,0.00:81.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,21.7:0,0:0,0:122,111:28,40:14,17:NM_207363.2(NCKAP5) c.144-97A>T,-:0.09,-:NOT_FOUND,- 2 133984176 rs3051222 A AAC 11 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=24;NP=78;Gene=NCKAP5/NM_207363.2/1;CC=c.144-12826_144-12825insGT;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.144-12826_144-12825insGT;VC=Intron;Gene=MIR7853/NR_107007.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,AAC:9:6:4:0:5,4:163,122:0.00,11.42:0.00,7.82:0.00,3.60:0.00,0.85:0.00,0.96:0.00,0.94:60,70:11.8,22.5:0,0:0,0:24,64:116,81:11,11:-,NM_207363.2(NCKAP5) c.144-12826_144-12825insGT:-,NOT_FOUND:-,NOT_FOUND 2 134060683 . C . . NT END=134275028;NT GT ./. 2 134114860 rs199636383 G GAC 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=244;PC=0.001;Gene=NCKAP5/NM_207363.2/1;CC=c.70-54179_70-54178insGT;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.70-54179_70-54178insGT;VC=Intron;Gene=MIR7853/NR_107007.1/0;VC=NonCoding;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GAC:3:3:4:0:3:135:11.16:7.45:3.70:0.85:0.99:0.99:60:3.3:1:0:63:87:13:NM_207363.2(NCKAP5) c.70-54179_70-54178insGT,NM_207363.2(NCKAP5) c.70-54179_70-54178insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 134198654 rs2320849 G C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5871,C/0.4129;Gene=NCKAP5/NM_207363.2/1;CC=c.69+76375C>G;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.69+76375C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,G:6:5:0:0:3,3:106,92:10.23,0.00:7.10,0.00:3.12,0.00:0.73,0.00:0.96,0.00:0.96,0.00:60,60:46.0,23.0:0,0:0,0:61,11:90,43:11,6:NM_207363.2(NCKAP5) c.69+76375C>G,-:0.4,-:NOT_FOUND,- 2 134198665 rs56053040 TCA T 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=268;PC=0.006;Gene=NCKAP5/NM_207363.2/1;CC=c.69+76362_69+76363delTG;VC=Intron;Gene=NCKAP5/NM_207481.3/0;CC=c.69+76362_69+76363delTG;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TCA,T:4:5:0:4:2,2:67,105:0.00,6.71:0.00,3.36:0.00,3.36:0.00,0.46:0.00,0.46:0.00,0.87:60,60:7.5,52.5:0,1:0,0:19,88:66,52:3,11:-,NM_207363.2(NCKAP5) c.69+76362_69+76363delTG:-,NOT_FOUND:-,NOT_FOUND 2 134275098 . G . . NT END=135011974;NT GT ./. 2 134605754 rs56887344 T TTTTG 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=263;PC=0.003;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:T,TTTTG:4:4:3:0:1,3:8,101:0.00,10.63:0.00,5.05:0.00,5.58:0.00,0.85:0.00,0.85:0.00,0.99:60,60:89.0,2.7:0,0:0,0:38,68:113,83:0,19:-,chr2 g.134605754_134605755insTTTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 134624829 rs397706225 T TAC 18 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.614,TAC/0.386,TACAC/.;DB;DBA=NA;PAF=T/0.614,TAC/0.386;NP=103;NP=2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TAC:5:5:5:0:5:159:18.28:12.62:5.67:1.00:1.00:1.00:60:7.8:0:0:42:107:14:chr2 g.134624829_134624830insAC (intergenic),chr2 g.134624829_134624830insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 134689104 rs57052235 TCACACA T 13 sb,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;PC=0.003;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TCACACA,T:6:6:0:4:2,4:68,129:0.00,13.15:0.00,11.59:0.00,1.56:0.00,0.93:0.00,0.93:0.00,0.91:60,60:0.0,6.2:0,0:0,0:81,39:36,93:5,4:-,chr2 g.134689105_134689110delCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 134697204 rs3034681 C CCA 17 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2466,CCA/0.7534;NP=670;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CCA:5:4:5:0:5:144:16.78:7.94:8.84:1.00:1.00:1.00:60:22.6:0:0:61:70:15:chr2 g.134697204_134697205insCA (intergenic),chr2 g.134697204_134697205insCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 134698606 rs3034689 A AACACACACACACACAC 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5575,AAC/.,AACACAC/0.4425,AACACACACACACACAC/.,AACACACACACACACACACAC/.;DB;DBA=NA;PAF=A/0.5575,AAC/.,AACAC/.,AACACAC/0.4425;NP=37;NP=46;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,AACACACACACACACAC:3:2:3:0:1,2:28,97:0.00,6.45:0.00,-2.04:0.00,8.49:0.00,0.51:0.00,0.79:0.00,0.89:60,60:33.0,21.0:0,1:0,0:71,28:78,94:0,5:-,chr2 g.134698606_134698607insACACACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 134699656 rs34555494 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=147;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:6:3:0:0:2,4:72,139:0.00,14.15:0.00,9.40:0.00,4.75:0.00,0.93:0.00,0.97:0.00,0.99:60,60:18.0,34.8:2,0:0,0:84,72:67,47:0,28:-,chr2 g.134699655C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 134699690 . GTGTGTGTGTCTC G 13 nt VT=DEL;SST=Single;DP=6;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:GTGTGTGTGTCTC,G:6:1:0:4:2,4:46,132:0.00,13.47:0.00,3.60:0.00,9.87:0.00,0.93:0.00,0.78:0.00,0.99:60,70:53.5,26.0:1,0:0,0:63,104:87,46:55,16:-,chr2 g.134699691_134699702delTGTGTGTGTCTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 134815536 rs72843918 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9179,A/0.08207 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:7:6:0:0:3,4:86,112:7.96,0.00:4.16,0.00:3.79,0.00:0.69,0.00:0.95,0.00:0.83,0.00:60,60:53.7,40.5:0,0:0,0:89,38:62,92:15,10:chr2 g.134815535G>A (intergenic),-:0.08,-:NOT_FOUND,- 2 134902785 rs59065013 C G,CTCTCTGTGTGTGTG 7 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6953,G/0.3047;DB;DBA=NA;PAF=NA;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:66:G,CTCTCTGTGTGTGTG:4:6:4:0:2,2:71,134:7.10,6.80:3.55,6.80:3.55,0.00:0.42,0.00:0.42,0.00:0.81,0.00:60,70:35.5,10.5:0,2:0,0:49,48:87,103:23,22:chr2 g.134902784C>G (intergenic),chr2 g.134902785_134902786insTCTCTGTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 135012217 . T . . NT END=135027956;NT GT ./. 2 135028123 . T . . NT END=135075099;NT GT ./. 2 135075178 . T . . NT END=135076220;NT GT ./. 2 135075378 rs3791280 G A 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7813,A/0.2187;Gene=MGAT5/NM_002410.4/1;CC=c.483+202G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:183:21.15:0.00:21.15:1.00:0.00:1.00:60:80.0:0:0:106:44:30:NM_002410.4(MGAT5) c.483+202G>A,NM_002410.4(MGAT5) c.483+202G>A:0.19,0.19:NOT_FOUND,NOT_FOUND 2 135076046 rs4954132 T G 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.03714,G/0.9629;PC=0.001;Gene=MGAT5/NM_002410.4/1;CC=c.484-175T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:263:30.99:30.99:0.00:1.00:1.00:0.00:60:103.7:0:0:27:121:19:NM_002410.4(MGAT5) c.484-175T>G,NM_002410.4(MGAT5) c.484-175T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 135076090 rs4954133 C T 62 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.04273,T/0.9573;Gene=MGAT5/NM_002410.4/1;CC=c.484-131C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:18:0:0:18:532:61.69:61.69:0.00:1.00:1.00:0.00:60:90.8:0:0:43:99:25:NM_002410.4(MGAT5) c.484-131C>T,NM_002410.4(MGAT5) c.484-131C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 135076111 rs4954134 C G 65 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.04213,G/0.9579;Gene=MGAT5/NM_002410.4/1;CC=c.484-110C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:564:65.40:63.46:1.94:1.00:1.00:1.00:60:81.9:0:0:50:101:27:NM_002410.4(MGAT5) c.484-110C>G,NM_002410.4(MGAT5) c.484-110C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 135076312 . T . . NT END=135093787;NT GT ./. 2 135076559 rs1866457 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2374,A/0.7626;Gene=MGAT5/NM_002410.4/1;CC=c.573+249G>A;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:0:0:0:3,1:91,32:9.55,0.00:0.00,0.00:9.55,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:48.7,34.0:0,0:0,0:136,146:14,4:12,0:NM_002410.4(MGAT5) c.573+249G>A,-:0.8,-:NOT_FOUND,- 2 135093861 . T . . NT END=135095829;NT GT ./. 2 135095637 rs12621027 C G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4103,G/0.5897;Gene=MGAT5/NM_002410.4/1;CC=c.646-193C>G;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,G:9:9:0:0:5,4:145,112:0.00,10.40:0.00,10.40:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:28.4,43.2:0,0:0,0:18,29:132,121:10,6:-,NM_002410.4(MGAT5) c.646-193C>G:-,0.61:-,NOT_FOUND 2 135095993 . T . . NT END=135099160;NT GT ./. 2 135096097 rs7598410 T C 83 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.03355,C/0.9665;Gene=MGAT5/NM_002410.4/1;CC=c.807+106T>C;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:2:0:0:23:716:82.51:4.81:77.69:1.00:1.00:1.00:60:33.4:0:0:106:45:30:NM_002410.4(MGAT5) c.807+106T>C,NM_002410.4(MGAT5) c.807+106T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 135096230 rs397747134 CTT C 14 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=CTT/0.4113,C/0.5887;DB;DBA=NA;PAF=CTT/0.4113,C/0.5887;NP=156;PC=0.035;Gene=MGAT5/NM_002410.4/1;CC=c.807+242_807+243delTT;VC=Intron;DM=MGAT5/Glyco_transf_18;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:CTT,C:12:0:0:5:7,5:231,152:0.00,14.04:0.00,0.00:0.00,14.04:0.00,0.92:0.00,0.00:0.00,0.92:60,60:15.6,21.4:0,0:0,0:129,79:22,72:20,22:-,NM_002410.4(MGAT5) c.807+240_807+241delTT:-,0.6:-,NOT_FOUND 2 135096302 rs935480 C T 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4115,T/0.5885;Gene=MGAT5/NM_002410.4/1;CC=c.807+311C>T;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,T:6:0:0:0:3,3:83,98:0.00,9.43:0.00,0.00:0.00,9.43:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,32.7:0,0:0,0:119,127:29,24:28,22:-,NM_002410.4(MGAT5) c.807+311C>T:-,0.61:-,NOT_FOUND 2 135099332 . T . . NT END=135102500;NT GT ./. 2 135102453 rs397719490 TA T 59 nt VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=TA/0.7081,T/0.2919;DB;DBA=NA;PAF=TA/0.7081,T/0.2919;NP=1735;PC=0.145;Gene=MGAT5/NM_002410.4/1;CC=c.978-45delA;VC=Intron;DM=MGAT5/Glyco_transf_18;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:44:37:0:20:24,20:727,631:0.00,59.50:0.00,45.54:0.00,13.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,9.3:0,0:0,0:40,42:110,103:24,27:-,NM_002410.4(MGAT5) c.978-47delA:-,0.28:-,0.290861 2 135102637 . T . . NT END=135107375;NT GT ./. 2 135102742 rs2290048 A G 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7075,G/0.2925;Gene=MGAT5/NM_002410.4/1;CC=c.1112+107A>G;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:1:0:0:8,10:244,317:0.00,31.09:0.00,1.86:0.00,29.23:0.00,1.00:0.00,0.70:0.00,1.00:60,60:9.0,32.8:0,0:0,0:97,91:53,60:35,24:-,NM_002410.4(MGAT5) c.1112+107A>G:-,0.28:-,NOT_FOUND 2 135107511 . T . . NT END=135119845;NT GT ./. 2 135107662 rs79478959 T TTTTTTGTTTTTG 20 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.04972,TTTTTTGTTTTTG/0.8922,TTTTTTGTTTTTGTTTTTG/0.05631;DB;DBA=NA;PAF=T/0.04972,TTTG/.,TTTTTTG/0.001797,TTTTTTGTTTTTG/0.8922,TTTTTTGTTTTTGTTTTTG/0.05631;DB;DBA=NA;PAF=NA;NP=1;NP=323;PC=0.627;Gene=MGAT5/NM_002410.4/1;CC=c.1246+159_1246+170dupGTTTTTGTTTTT;VC=Intron;DM=MGAT5/Glyco_transf_18;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTTTTGTTTTTG:16:0:7:0:9,7:273,218:0.00,20.39:0.00,0.00:0.00,20.39:0.00,0.98:0.00,0.00:0.00,0.98:60,60:5.7,12.9:0,0:0,0:119,81:18,68:14,14:-,NM_002410.4(MGAT5) c.1246+153_1246+154insTTTTTGTTTTTG:-,NOT_FOUND:-,NOT_FOUND 2 135119981 . T . . NT END=135160558;NT GT ./. 2 135160710 . T . . NT END=135170439;NT GT ./. 2 135160755 rs3748900 G A 81 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.6462,A/0.3538;Gene=MGAT5/NM_002410.4/1;CC=c.1530+47G>A;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:18:0:0:26,31:857,962:81.05,0.00:15.20,0.00:65.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,15.9:0,0:0,0:105,112:42,37:26,14:NM_002410.4(MGAT5) c.1530+47G>A,-:0.35,-:0.293339,- 2 135170588 . T . . NT END=135180373;NT GT ./. 2 135177013 rs56181696 T TTG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=MGAT5/NM_002410.4/1;CC=c.1678-3314_1678-3313insGT;VC=Intron;DM=MGAT5/Glyco_transf_18;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TTG:4:4:3:0:1,3:34,95:0.00,9.95:0.00,8.18:0.00,1.78:0.00,0.85:0.00,0.85:0.00,0.83:60,60:32.0,19.3:0,0:0,0:110,45:41,106:0,5:-,NM_002410.4(MGAT5) c.1678-3361_1678-3360insTG:-,NOT_FOUND:-,NOT_FOUND 2 135180492 . T . . NT END=135185935;NT GT ./. 2 135186012 . T . . NT END=135199328;NT GT ./. 2 135199488 . T . . NT END=135206219;NT GT ./. 2 135199497 . T G 11 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=85;Gene=MGAT5/NM_002410.4/1;CC=c.2027+11T>G;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:G,T:85:40:0:0:11,74:193,2122:10.57,0.00:-1.89,0.00:12.46,0.00:0.99,0.00:0.98,0.00:1.00,0.00:60,60:103.5,25.6:0,0:0,0:100,97:51,52:24,32:NM_002410.4(MGAT5) c.2027+11T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 135199716 rs557408 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.07548,G/0.9245;Gene=MGAT5/NM_002410.4/1;CC=c.2027+230A>G;VC=Intron;DM=MGAT5/Glyco_transf_18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:9:0:0:0:4,5:129,163:0.00,16.00:0.00,0.00:0.00,16.00:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,36.8:0,0:0,0:98,92:52,59:19,1:-,NM_002410.4(MGAT5) c.2027+230A>G:-,0.88:-,NOT_FOUND 2 135206420 . A . . NT END=135214286;NT GT ./. 2 135214034 rs397824907 T TA 15 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6534,TA/0.3466;DB;DBA=NA;PAF=T/0.6534,TA/0.3466;NP=105;Gene=TMEM163/NM_030923.4/1;CC=c.*252dupT;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:T,TA:10:10:5:0:5,5:178,156:0.00,14.97:0.00,14.97:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:7.0,50.2:1,0:0,0:66,32:85,119:20,6:-,NM_030923.4(TMEM163) c.*252dupT:-,0.3:-,NOT_FOUND 2 135214042 rs2289469 G A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.652,A/0.348;PC=0.003;Gene=TMEM163/NM_030923.4/1;CC=c.*245C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,G:11:11:0:0:7,4:239,127:24.11,0.00:24.11,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.4,0.0:0,0:0,0:41,65:110,84:7,19:NM_030923.4(TMEM163) c.*245C>T,-:0.3,-:NOT_FOUND,- 2 135214326 . C T 183 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=130;NP=1;PC=0.218;Gene=TMEM163/NM_030923.4/1;CC=c.831G>A;ProtCh=p.P277=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:130:94:0:0:1,67,62:10,2165,1925:-0.15,0.00,183.23:-0.03,0.00,89.31:-0.12,0.00,93.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:127.0,8.7,47.3:0,0,0:0,0,0:71,87,83:80,64,64:0,30,22:-,NM_030923.4(TMEM163) c.831G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 135214348 . C . . NT END=135215602;NT GT ./. 2 135214570 rs10179686 C T 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.885,T/0.115;Gene=TMEM163/NM_030923.4/1;CC=c.810-223G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:11:0:0:0:7,4:199,103:0.00,9.07:0.00,0.00:0.00,9.07:0.00,0.82:0.00,0.00:0.00,0.82:60,60:5.9,55.2:0,0:0,0:97,115:54,35:10,4:-,NM_030923.4(TMEM163) c.810-223G>A:-,0.12:-,NOT_FOUND 2 135215745 . C . . NT END=135223684;NT GT ./. 2 135223797 . C . . NT END=135260471;NT GT ./. 2 135260569 . C . . NT END=135308140;NT GT ./. 2 135308233 . C . . NT END=135309618;NT GT ./. 2 135308431 rs59357769 A G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4139,G/0.5861;Gene=TMEM163/NM_030923.4/1;CC=c.367-199T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:7:0:0:0:3,4:91,130:0.00,12.83:0.00,0.00:0.00,12.83:0.00,0.90:0.00,0.00:0.00,0.90:60,60:25.7,32.5:0,0:0,0:86,66:65,83:10,29:-,NM_030923.4(TMEM163) c.367-199T>C:-,0.54:-,NOT_FOUND 2 135309663 . C . . NT END=135470769;NT GT ./. 2 135470855 rs16830938 G A 148 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=G/0.9882,A/0.01178;NP=35;PC=0.695;Gene=TMEM163/NM_030923.4/1;CC=c.237C>T;ProtCh=p.H79=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:114:69:0:0:48,66:1584,2110:147.60,0.00:79.45,0.00:68.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,4.0:0,0:0,0:94,84:52,66:29,28:NM_030923.4(TMEM163) c.237C>T (p.(=)),-:0.01,-:0.001615,- 2 135470890 . C . . NT END=135476303;NT GT ./. 2 135476506 . G . . NT END=135596252;NT GT ./. 2 135476631 . A G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,G:11:3:0:0:6,5:135,82:0.00,7.26:0.00,-0.78:0.00,8.03:0.00,0.93:0.00,0.85:0.00,0.99:60,60:35.3,129.4:0,0:0,0:138,90:12,61:10,49:-,NM_030923.4(TMEM163) c.-66-u60T>C:-,NOT_FOUND:-,NOT_FOUND 2 135596310 . G . . NT END=135602802;NT GT ./. 2 135602601 rs6430545 T A 72 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2636,A/0.7364;Gene=ACMSD/NM_001307983.1/1;CC=c.-67-202T>A;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.58-202T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:19:0:0:19:625:71.56:71.56:0.00:1.00:1.00:0.00:60:50.1:0:0:55:95:30:NM_138326.2(ACMSD) c.58-202T>A,NM_138326.2(ACMSD) c.58-202T>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 135602848 . G . . NT END=135616830;NT GT ./. 2 135616621 rs1446523 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2642,A/0.7358;Gene=ACMSD/NM_001307983.1/1;CC=c.-22-210G>A;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.103-210G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:200:22.86:22.86:0.00:1.00:1.00:0.00:60:57.2:0:0:35:116:7:NM_138326.2(ACMSD) c.103-210G>A,NM_138326.2(ACMSD) c.103-210G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 135616635 rs12053395 C G 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7017,G/0.2983;Gene=ACMSD/NM_001307983.1/1;CC=c.-22-196C>G;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.103-196C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,G:6:6:0:0:1,5:34,168:0.00,18.01:0.00,18.01:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:34.0,61.2:0,0:0,0:45,43:106,107:0,10:-,NM_138326.2(ACMSD) c.103-196C>G:-,0.26:-,NOT_FOUND 2 135616928 . G . . NT END=135619538;NT GT ./. 2 135619357 rs11441014 T TA 21 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8091,TA/0.1909;NP=943;Gene=ACMSD/NM_001307983.1/1;CC=c.76-1607dupA;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.200-181dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:17:17:7:0:10,7:326,225:0.00,20.84:0.00,20.84:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.1,4.4:0,0:0,0:60,39:90,112:39,17:-,NM_138326.2(ACMSD) c.200-182_200-181insA:-,0.21:-,NOT_FOUND 2 135619589 . G . . NT END=135620535;NT GT ./. 2 135620625 . G . . NT END=135620964;NT GT ./. 2 135620627 rs75913201 A AG 100 rn VT=INS;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.7087,AG/0.2913;DB;DBA=NA;PAF=A/0.7087,AG/0.2913;NP=21;Gene=ACMSD/NM_001307983.1/1;CC=c.76-332dupG;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.250-332dupG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AG:91:41:35:0:56,35:1866,1099:0.00,100.28:0.00,22.42:0.00,77.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,3.7:1,0:0,0:91,91:58,59:31,37:-,NM_138326.2(ACMSD) c.250-338_250-337insG:-,0.26:-,NOT_FOUND 2 135621202 . G . . NT END=135625148;NT GT ./. 2 135625243 . G . . NT END=135628534;NT GT ./. 2 135628406 rs79401460 C T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9275,T/0.07248;PC=0.002;Gene=ACMSD/NM_001307983.1/1;CC=c.407-129C>T;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.581-129C>T;VC=Intron;Gene=CCNT2-AS1/NR_036549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:13:0:0:6,7:206,223:0.00,21.74:0.00,21.74:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,37.7:0,0:0,0:76,9:74,133:47,7:-,NM_138326.2(ACMSD) c.581-129C>T:-,0.06:-,NOT_FOUND 2 135628631 . G . . NT END=135630038;NT GT ./. 2 135629927 rs12469941 C T 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.2566,T/0.7434;PC=0.016;Gene=ACMSD/NM_001307983.1/1;CC=c.503-112C>T;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.677-112C>T;VC=Intron;Gene=CCNT2-AS1/NR_036549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:26:0:0:26:828:95.20:89.63:5.57:1.00:1.00:1.00:60:36.7:0:0:40:110:31:NM_138326.2(ACMSD) c.677-112C>T,NM_138326.2(ACMSD) c.677-112C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 2 135630212 . G . . NT END=135655910;NT GT ./. 2 135630498 rs17257081 A G 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8169,G/0.1831;Gene=ACMSD/NM_001307983.1/1;CC=c.675+287A>G;VC=Intron;Gene=ACMSD/NM_138326.2/0;CC=c.849+287A>G;VC=Intron;Gene=CCNT2-AS1/NR_036549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:4:0:0:0:2,2:65,71:0.00,6.85:0.00,0.00:0.00,6.85:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,35.5:0,0:0,0:115,94:35,57:18,43:-,NM_138326.2(ACMSD) c.849+287A>G:-,0.2:-,NOT_FOUND 2 135656010 . G . . NT END=135659367;NT GT ./. 2 135659431 . C . . NT END=135676424;NT GT ./. 2 135676583 . G . . NT END=135677379;NT GT ./. 2 135677268 rs3769024 G A 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5857,A/0.4143;Gene=CCNT2/NM_001241.3/0;CC=c.159-112G>A;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.159-112G>A;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,C,G:14:14:0:0:5,1,8:145,11,245:13.12,0.28,0.00:13.12,0.28,0.00:0.00,0.00,0.00:0.90,0.00,0.00:0.90,0.00,0.00:0.00,0.00,0.00:60,60,60:37.8,47.0,9.8:0,0,0:0,0,0:77,124,37:69,27,112:55,0,26:NM_058241.2(CCNT2) c.159-112G>A,-:0.43,-:NOT_FOUND,- 2 135677462 . G . . NT END=135694410;NT GT ./. 2 135677471 rs3841862 A AGTTT 49 nt VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.5827,AGTTT/0.4173;NP=1002;Gene=CCNT2/NM_001241.3/0;CC=c.240+13_240+14insTGTT;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.240+13_240+14insTGTT;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGTTT:40:15:16:0:24,16:769,530:0.00,48.95:0.00,10.76:0.00,38.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,0.8:0,0:0,0:81,92:69,54:26,22:-,NM_058241.2(CCNT2) c.240+10_240+11insGTTT:-,0.43:-,0.322416 2 135694354 rs1823118 G C 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5871,C/0.4129;PC=0.193;Gene=CCNT2/NM_001241.3/0;CC=c.241-57G>C;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.241-57G>C;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:41:36:0:0:18,23:595,765:55.88,0.00:47.98,0.00:7.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.5,45.6:0,0:0,0:36,27:113,118:15,20:NM_058241.2(CCNT2) c.241-57G>C,-:0.43,-:NOT_FOUND,- 2 135694379 rs1374289 C T 182 nt VT=SNV;PN=T;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.2654,T/0.7346;PC=0.055;Gene=CCNT2/NM_001241.3/0;CC=c.241-32C>T;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.241-32C>T;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:T:49:41:0:0:49:1583:181.59:126.63:54.96:1.00:1.00:1.00:60:59.4:0:0:40:105:22:NM_058241.2(CCNT2) c.241-32C>T,NM_058241.2(CCNT2) c.241-32C>T:0.72,0.72:0.549669,0.549669 2 135694540 . G . . NT END=135696571;NT GT ./. 2 135696633 . G . . NT END=135700181;NT GT ./. 2 135700151 rs3816339 A T 58 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5839,T/0.4161;PC=0.996;Gene=CCNT2/NM_001241.3/0;CC=c.431-31A>T;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.431-31A>T;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:43:37:0:0:24,19:778,617:0.00,57.95:0.00,36.19:0.00,21.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,34.1:0,0:0,0:38,39:112,92:23,22:-,NM_058241.2(CCNT2) c.431-31A>T:-,0.43:-,0.324977 2 135700245 . G . . NT END=135700406;NT GT ./. 2 135700720 . c . . NT END=135700961;NT GT ./. 2 135701489 rs12617286 T C 77 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.5889,C/0.4111;Gene=CCNT2/NM_001241.3/0;CC=c.493+1245T>C;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.493+1245T>C;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:25:0:0:26,22:788,725:76.73,0.00:34.43,0.00:42.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,8.3:0,0:0,0:85,73:52,77:38,24:NM_058241.2(CCNT2) c.493+1245T>C,-:0.43,-:NOT_FOUND,- 2 135701829 rs12619527 G A 75 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.5839,A/0.4161;PC=0.008;Gene=CCNT2/NM_001241.3/0;CC=c.493+1585G>A;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.493+1585G>A;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:33:0:0:24,29:791,975:74.70,0.00:40.28,0.00:34.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.5,7.4:0,0:0,0:60,86:87,52:31,23:NM_058241.2(CCNT2) c.493+1585G>A,-:0.43,-:NOT_FOUND,- 2 135702136 rs16831173 C A 128 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.6949,A/0.3051;Gene=CCNT2/NM_001241.3/0;CC=c.494-1535C>A;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.494-1535C>A;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:80:49:0:0:42,38:1317,1281:127.65,0.00:59.01,0.00:68.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,2.6:0,0:0,0:75,64:75,86:30,30:NM_058241.2(CCNT2) c.494-1535C>A,-:0.27,-:NOT_FOUND,- 2 135703338 rs57267734 CT C 152 rn VT=DEL;SST=Single;DP=93;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=77;PC=0.995;Gene=CCNT2/NM_001241.3/0;CC=c.494-323delT;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.494-323delT;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:92:56:1:50:42,1,49:1390,31,1597:0.00,1.43,152.49:0.00,1.55,96.02:0.00,-0.12,56.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:14.8,22.0,13.3:0,0,1:0,0,0:94,29,58:52,122,88:39,0,32:-,NM_058241.2(CCNT2) c.494-332delT:-,NOT_FOUND:-,NOT_FOUND 2 135703553 . G . . NT END=135703670;NT GT ./. 2 135703650 rs571972480 G GT 25 idl,rn VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.006;Gene=CCNT2/NM_001241.3/0;CC=c.494-8dupT;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.494-8dupT;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:68:32:11:5:49,3,11,5:1489,34,325,140:0.00,0.30,25.32,9.11:0.00,-0.37,10.04,1.32:0.00,0.67,15.27,7.79:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,70,60:14.4,47.3,22.5,22.6:0,0,0,0:0,0,0,0:73,62,75,61:76,89,57,90:28,30,41,15:-,NM_058241.2(CCNT2) c.494-21_494-20insT:-,NOT_FOUND:-,NOT_FOUND 2 135703717 . G . . NT END=135703958;NT GT ./. 2 135704036 . G . . NT END=135705305;NT GT ./. 2 135705470 . G . . NT END=135710210;NT GT ./. 2 135705558 rs1979033 G A 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1192,A/0.8808;Gene=CCNT2/NM_001241.3/0;CC=c.703+89G>A;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.703+89G>A;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:2:0:0:18:579:66.48:5.62:60.87:1.00:1.00:1.00:60:38.4:0:0:119:32:22:NM_058241.2(CCNT2) c.703+89G>A,NM_058241.2(CCNT2) c.703+89G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 135710282 . G . . NT END=135710799;NT GT ./. 2 135710322 rs10166142 A G 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2971,G/0.7029;Gene=CCNT2/NM_001241.3/0;CC=c.774+41A>G;VC=Intron;Gene=CCNT2/NM_058241.2/1;CC=c.774+41A>G;VC=Intron;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:11:0:0:28:927:106.05:30.06:75.98:1.00:1.00:1.00:60:38.2:0:0:90:59:28:NM_058241.2(CCNT2) c.774+41A>G,NM_058241.2(CCNT2) c.774+41A>G:0.69,0.69:0.525611,0.525611 2 135711516 rs3814355 C T 220 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.2672,T/0.7328;PC=0.977;Gene=CCNT2/NM_001241.3/0;CC=c.1491C>T;ProtCh=p.D497=;VC=Silent;Gene=CCNT2/NM_058241.2/1;CC=c.1491C>T;ProtCh=p.D497=;VC=Silent;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:G,T:63:42:0:0:1,62:24,1913:1.11,220.17:1.11,115.55:0.00,104.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:150.0,45.3:0,0:0,0:46,71:105,73:0,40:NM_058241.2(CCNT2) c.1491C>T (p.(=)),NM_058241.2(CCNT2) c.1491C>T (p.(=)):0.72,0.72:0.552591,0.552591 2 135711657 rs3814354 G A 274 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.2979,A/0.7021;PC=1.000;Gene=CCNT2/NM_001241.3/0;CC=c.1632G>A;ProtCh=p.K544=;VC=Silent;Gene=CCNT2/NM_058241.2/1;CC=c.1632G>A;ProtCh=p.K544=;VC=Silent;Gene=CCNT2/NR_037649.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:75:50:0:0:75:2380:273.70:149.94:123.76:1.00:1.00:1.00:60:40.3:0:0:63:88:43:NM_058241.2(CCNT2) c.1632G>A (p.(=)),NM_058241.2(CCNT2) c.1632G>A (p.(=)):0.69,0.69:0.525142,0.525142 2 135712219 . T . . NT END=135722419;NT GT ./. 2 135722143 rs1592 A C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.371,C/0.629;PC=0.348;Gene=MAP3K19/NM_001018044.2/0;CC=c.*277T>G;VC=3UTR;Gene=MAP3K19/NM_001018046.2/0;CC=c.*277T>G;VC=3UTR;Gene=MAP3K19/NM_001018047.2/0;CC=c.*277T>G;VC=3UTR;Gene=MAP3K19/NM_001282883.1/0;CC=c.*277T>G;VC=3UTR;Gene=MAP3K19/NM_025052.4/1;CC=c.*277T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:112:13.06:13.06:0.00:1.00:1.00:0.00:60:69.5:0:0:34:110:6:chr2 g.135722142A>C (intergenic),chr2 g.135722142A>C (intergenic):0.59,0.59:NOT_FOUND,NOT_FOUND 2 135722487 . C . . NT END=135738390;NT GT ./. 2 135739089 . C . . NT END=135741245;NT GT ./. 2 135741396 . C . . NT END=135743369;NT GT ./. 2 135745824 . C . . NT END=135749106;NT GT ./. 2 135749151 . C . . NT END=135756307;NT GT ./. 2 135756568 . C . . NT END=135757506;NT GT ./. 2 135757586 . C . . NT END=135763004;NT GT ./. 2 135763102 . C . . NT END=135779284;NT GT ./. 2 135779401 . C . . NT END=135782195;NT GT ./. 2 135782218 . T . . NT END=135809877;NT GT ./. 2 135809896 . G . . NT END=135809999;NT GT ./. 2 135810056 . G . . NT END=135815580;NT GT ./. 2 135815657 . G . . NT END=135848567;NT GT ./. 2 135848701 . G . . NT END=135851184;NT GT ./. 2 135851264 . G . . NT END=135870720;NT GT ./. 2 135870841 . G . . NT END=135872785;NT GT ./. 2 135872952 . G . . NT END=135878388;NT GT ./. 2 135875164 rs62170230 G T 10 mq,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=22;Gene=RAB3GAP1/NM_001172435.1/1;CC=c.648+2213G>T;VC=Intron;Gene=RAB3GAP1/NM_012233.2/0;CC=c.648+2213G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,T:4:2:0:0:1,3:34,94:0.00,9.85:0.00,6.70:0.00,3.15:0.00,0.85:0.00,0.95:0.00,0.95:1,17:174.0,197.7:0,0:0,0:87,53:62,98:0,44:-,NM_001172435.1(RAB3GAP1) c.648+2213G>T:-,NOT_FOUND:-,NOT_FOUND 2 135878489 . G . . NT END=135881734;NT GT ./. 2 135881817 . G . . NT END=135883750;NT GT ./. 2 135883820 . G . . NT END=135884152;NT GT ./. 2 135884227 . G . . NT END=135887564;NT GT ./. 2 135887514 rs112212040 AT A 10 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=131;PC=0.020;Gene=RAB3GAP1/NM_001172435.1/1;CC=c.974-38delT;VC=Intron;Gene=RAB3GAP1/NM_012233.2/0;CC=c.974-38delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:AT,I,A:25:25:2:5:19,2,4:604,57,158:0.00,3.77,10.38:0.00,1.64,10.56:0.00,2.13,-0.18:0.00,0.00,0.67:0.00,0.00,0.95:0.00,0.00,0.61:60,60,60:33.6,21.0,32.2:0,0,1:0,0,0:55,41,13:93,108,138:38,4,10:-,NM_001172435.1(RAB3GAP1) c.974-50delT:-,NOT_FOUND:-,NOT_FOUND 2 135887658 . G . . NT END=135888121;NT GT ./. 2 135888292 . G . . NT END=135890464;NT GT ./. 2 135890555 . G . . NT END=135891430;NT GT ./. 2 135891604 . G . . NT END=135892834;NT GT ./. 2 135892890 . G . . NT END=135893133;NT GT ./. 2 135893503 . G . . NT END=135907938;NT GT ./. 2 135908077 . G . . NT END=135911218;NT GT ./. 2 135911447 . G . . NT END=135920124;NT GT ./. 2 135920222 . G . . NT END=135920317;NT GT ./. 2 135920422 . G . . NT END=135920555;NT GT ./. 2 135920672 . G . . NT END=135922163;NT GT ./. 2 135922267 . G . . NT END=135925262;NT GT ./. 2 135925284 . G . . NT END=135926114;NT GT ./. 2 135926352 . T . . NT END=135957911;NT GT ./. 2 135958011 . C . . NT END=135960401;NT GT ./. 2 135960534 . C . . NT END=135965003;NT GT ./. 2 135965407 . C . . NT END=135966437;NT GT ./. 2 135966549 . C . . NT END=135975034;NT GT ./. 2 135975178 . C . . NT END=135976646;NT GT ./. 2 135976749 . C . . NT END=135981995;NT GT ./. 2 135982088 . C . . NT END=135985381;NT GT ./. 2 135985586 . C . . NT END=135988082;NT GT ./. 2 135988498 . C . . NT END=136023103;NT GT ./. 2 136023257 . C . . NT END=136026531;NT GT ./. 2 136026712 . C . . NT END=136029337;NT GT ./. 2 136029458 . C . . NT END=136033205;NT GT ./. 2 136033326 . C . . NT END=136071058;NT GT ./. 2 136046443 rs57200280 CGT C 7 sb;idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;PC=0.218;Gene=ZRANB3/NM_001286568.1/0;CC=c.967-13120_967-13119delAC;VC=Intron;Gene=ZRANB3/NM_001286569.1/1;CC=c.-491-13120_-491-13119delAC;VC=Intron;Gene=ZRANB3/NM_032143.3/0;CC=c.967-13120_967-13119delAC;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CGT,I,C:11:11:1:5:7,1,3:234,32,147:0.00,2.32,7.42:0.00,1.14,1.36:0.00,1.18,6.06:0.00,0.00,0.58:0.00,0.00,0.91:0.00,0.00,0.89:60,60,70:15.7,0.0,34.0:0,0,2:0,0,0:39,21,29:110,85,53:7,0,29:-,NM_032143.2(ZRANB3) c.967-13120_967-13119delAC:-,NOT_FOUND:-,NOT_FOUND 2 136071176 . C . . NT END=136072928;NT GT ./. 2 136073101 . C . . NT END=136103119;NT GT ./. 2 136103038 rs75118467 C CA 7 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=1;PC=0.004;Gene=ZRANB3/NM_001286568.1/0;CC=c.677+81_677+82insT;VC=Intron;Gene=ZRANB3/NM_001286569.1/1;CC=c.-781+81_-781+82insT;VC=Intron;Gene=ZRANB3/NM_032143.3/0;CC=c.677+81_677+82insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,CA,D:27:26:3:1:23,3,1:759,94,34:0.00,6.80,2.07:0.00,6.87,2.09:0.00,-0.07,-0.02:0.00,0.44,0.00:0.00,0.88,0.00:0.00,0.34,0.00:60,60,60:9.5,8.7,33.0:0,0,0:0,0,0:46,68,61:105,83,90:43,34,0:-,NM_032143.2(ZRANB3) c.677+81_677+82insT:-,NOT_FOUND:-,NOT_FOUND 2 136103206 . C . . NT END=136107553;NT GT ./. 2 136107786 . C . . NT END=136111019;NT GT ./. 2 136111199 . C . . NT END=136112794;NT GT ./. 2 136112844 . A . . NT END=136148371;NT GT ./. 2 136112930 . CT C 33 idl,rn VT=DEL;SST=Single;DP=81;NP=1;PC=0.004;Gene=ZRANB3/NM_001286568.1/0;CC=c.181-1733delA;VC=Intron;Gene=ZRANB3/NM_001286569.1/1;CC=c.-1277-1733delA;VC=Intron;Gene=ZRANB3/NM_032143.3/0;CC=c.181-1733delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:77:26:4:17:60,3,14:1876,112,514:0.00,4.79,33.18:0.00,0.98,3.19:0.00,3.81,29.99:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:10.4,74.0,15.5:0,1,3:0,0,0:125,105,97:20,46,53:18,12,29:-,NM_032143.2(ZRANB3) c.181-1733delA:-,NOT_FOUND:-,NOT_FOUND 2 136148391 . C . . NT END=136261898;NT GT ./. 2 136148394 rs202232784 GA G 55 idl,rn VT=DEL;SST=Single;DP=112;DB;DBA=NA;PAF=NA;NP=23;PC=1.000;Gene=ZRANB3/NM_001286568.1/0;CC=c.162-5delT;VC=Intron;Gene=ZRANB3/NM_001286569.1/1;CC=c.-1296-5delT;VC=Intron;Gene=ZRANB3/NM_032143.3/0;CC=c.162-5delT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,GA,I,G:105:73:12:26:5,1,69,9,21:102,13,2011,353,789:4.99,-0.09,0.00,19.15,54.56:-0.68,-0.13,0.00,10.39,39.79:5.67,0.04,0.00,8.76,14.76:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:76.2,97.0,29.3,47.8,27.4:2,0,1,4,4:0,0,0,0,0:113,94,104,71,78:38,15,47,63,70:15,0,24,20,21:-,NM_032143.2(ZRANB3) c.162-5delT:-,NOT_FOUND:-,NOT_FOUND 2 136262067 . C . . NT END=136289107;NT GT ./. 2 136289293 . G . . NT END=136291516;NT GT ./. 2 136291522 . a . . NT END=136294076;NT GT ./. 2 136294128 . A . . NT END=136294233;NT GT ./. 2 136294347 . g . . NT END=136300716;NT GT ./. 2 136300730 . g . . NT END=136307518;NT GT ./. 2 136307803 . A . . NT END=136316607;NT GT ./. 2 136316620 . AGT A 21 idl,rn VT=DEL;SST=Single;DP=61;NP=7;Gene=R3HDM1/NM_001282799.1/0;CC=c.-250+27459_-250+27460delTG;VC=Intron;Gene=R3HDM1/NM_015361.3/1;CC=c.-250+27459_-250+27460delTG;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:AGT,I,A:60:44:1:11:50,1,9:1554,34,301:0.00,1.74,20.96:0.00,1.91,12.63:0.00,-0.17,8.33:0.00,0.00,0.98:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:16.4,0.0,16.2:0,0,1:0,0,0:95,73,75:51,78,75:21,0,13:-,NM_015361.2(R3HDM1) c.-250+27418_-250+27419delGT:-,NOT_FOUND:-,NOT_FOUND 2 136316732 . a . . NT END=136318864;NT GT ./. 2 136318907 . t . . NT END=136324206;NT GT ./. 2 136324395 . t . . NT END=136334573;NT GT ./. 2 136334614 . G GA 26 rn VT=INS;SST=Single;DP=45;NP=1;PC=0.012;Gene=R3HDM1/NM_001282799.1/0;CC=c.-249-25444dupA;VC=Intron;Gene=R3HDM1/NM_015361.3/1;CC=c.-249-25444dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA:44:38:11:0:1,33,10:10,1060,349:-0.12,0.00,26.24:-0.27,0.00,14.18:0.15,0.00,12.07:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.94:60,60,70:36.0,19.2,5.7:0,0,1:0,0,0:16,26,31:135,125,119:0,23,22:-,NM_015361.2(R3HDM1) c.-249-25456_-249-25455insA:-,NOT_FOUND:-,NOT_FOUND 2 136334788 . a . . NT END=136338762;NT GT ./. 2 136338785 . C . . NT END=136338800;NT GT ./. 2 136338970 . A . . NT END=136341330;NT GT ./. 2 136341369 . A . . NT END=136341403;NT GT ./. 2 136341442 . A . . NT END=136341451;NT GT ./. 2 136341503 . A . . NT END=136341524;NT GT ./. 2 136341576 . A . . NT END=136341608;NT GT ./. 2 136341639 . t . . NT END=136341892;NT GT ./. 2 136341909 . t . . NT END=136344248;NT GT ./. 2 136344577 . T . . NT END=136348091;NT GT ./. 2 136348314 . A . . NT END=136354539;NT GT ./. 2 136354819 . T . . NT END=136360069;NT GT ./. 2 136360279 . G . . NT END=136362375;NT GT ./. 2 136362587 . G . . NT END=136364770;NT GT ./. 2 136364875 . G . . NT END=136365396;NT GT ./. 2 136365570 . T . . NT END=136373721;NT GT ./. 2 136373764 . G . . NT END=136374237;NT GT ./. 2 136374328 . G . . NT END=136377261;NT GT ./. 2 136377345 . A . . NT END=136377806;NT GT ./. 2 136377892 . G . . NT END=136378044;NT GT ./. 2 136378273 . T . . NT END=136379063;NT GT ./. 2 136379179 . G . . NT END=136379274;NT GT ./. 2 136380608 . C . . NT END=136389287;NT GT ./. 2 136389348 . G . . NT END=136389430;NT GT ./. 2 136389572 . G . . NT END=136393459;NT GT ./. 2 136393569 . G . . NT END=136393657;NT GT ./. 2 136393754 . G . . NT END=136396187;NT GT ./. 2 136396226 . G . . NT END=136396308;NT GT ./. 2 136396360 . G . . NT END=136396465;NT GT ./. 2 136396693 . G . . NT END=136399105;NT GT ./. 2 136399361 . G . . NT END=136402948;NT GT ./. 2 136403098 . G . . NT END=136407471;NT GT ./. 2 136409229 . A . . NT END=136409299;NT GT ./. 2 136409603 . G . . NT END=136418839;NT GT ./. 2 136418964 . G . . NT END=136424636;NT GT ./. 2 136424793 . T . . NT END=136425181;NT GT ./. 2 136425340 . T . . NT END=136426649;NT GT ./. 2 136427202 . c . . NT END=136427819;NT GT ./. 2 136428056 . C . . NT END=136432901;NT GT ./. 2 136433057 . G . . NT END=136437742;NT GT ./. 2 136437895 . G . . NT END=136467002;NT GT ./. 2 136464615 rs6430582 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.04153,C/0.9585;PC=0.405;Gene=R3HDM1/NM_001282799.1/0;CC=c.1971-2388T>C;VC=Intron;Gene=R3HDM1/NM_015361.3/1;CC=c.2355-2388T>C;VC=Intron;Gene=R3HDM1/NM_001282798.1/0;CC=c.2358-2388T>C;VC=Intron;Gene=R3HDM1/NM_001282800.1/0;CC=c.2190-2388T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:129:14.81:3.73:11.08:1.00:1.00:1.00:60:41.2:0:0:75:69:6:NM_015361.2(R3HDM1) c.2355-2388T>C,NM_015361.2(R3HDM1) c.2355-2388T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 136467107 . G . . NT END=136467628;NT GT ./. 2 136467164 rs2304367 C A 46 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.04113,A/0.9589;Gene=R3HDM1/NM_001282799.1/0;CC=c.2074+58C>A;VC=Intron;Gene=R3HDM1/NM_015361.3/1;CC=c.2458+58C>A;VC=Intron;Gene=R3HDM1/NM_001282798.1/0;CC=c.2461+58C>A;VC=Intron;Gene=R3HDM1/NM_001282800.1/0;CC=c.2293+58C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:1:0:0:13:401:46.30:1.39:44.91:1.00:1.00:1.00:60:46.1:0:0:134:17:9:NM_015361.2(R3HDM1) c.2458+58C>A,NM_015361.2(R3HDM1) c.2458+58C>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 136467802 . G . . NT END=136473119;NT GT ./. 2 136473265 . G . . NT END=136479493;NT GT ./. 2 136479577 . G . . NT END=136480038;NT GT ./. 2 136480124 . G . . NT END=136481506;NT GT ./. 2 136481863 . C . . NT END=136499499;NT GT ./. 2 136499582 . G . . NT END=136505836;NT GT ./. 2 136505940 . G . . NT END=136511108;NT GT ./. 2 136511138 . G . . NT END=136511728;NT GT ./. 2 136511575 rs3213889 A G 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6388,G/0.3612;PC=0.002;Gene=UBXN4/NM_014607.3/1;CC=c.215-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:338:39.51:39.51:0.00:1.00:1.00:0.00:60:39.0:0:0:64:87:49:NM_014607.3(UBXN4) c.215-154A>G,NM_014607.3(UBXN4) c.215-154A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 2 136511848 . G . . NT END=136513086;NT GT ./. 2 136513262 . G . . NT END=136519387;NT GT ./. 2 136519482 . G . . NT END=136527338;NT GT ./. 2 136527318 rs372143998 GT G 16 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=49;PC=0.001;Gene=UBXN4/NM_014607.3/1;CC=c.603-8delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GT,T,I,G:48:39:6:7:34,1,6,7:1100,9,190,213:0.00,-0.16,14.48,16.46:0.00,-0.02,9.98,11.89:0.00,-0.14,4.50,4.57:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.97:60,60,60,60:11.1,195.0,3.7,15.4:0,0,0,0:0,0,0,0:46,51,94,72:100,71,56,78:20,0,14,22:-,NM_014607.3(UBXN4) c.603-20delT:-,NOT_FOUND:-,NOT_FOUND 2 136527394 . G . . NT END=136528140;NT GT ./. 2 136527443 rs113881162 G GTGAT 87 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.6388,GAT/.,GTGAT/0.3612;NP=2537;Gene=UBXN4/NM_014607.3/1;CC=c.657+56_657+59dupGATT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:G,GTGAT:30:11:25:0:5,25:124,813:0.00,87.47:0.00,18.01:0.00,69.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.8,6.0:2,0:0,0:130,93:10,52:2,21:-,NM_014607.3(UBXN4) c.657+50_657+51insTGAT:-,0.43:-,0.563039 2 136528004 rs2304599 C G 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5178,G/0.4822;Gene=UBXN4/NM_014607.3/1;CC=c.658-137C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:406:46.77:46.77:0.00:1.00:1.00:0.00:60:62.2:0:0:41:110:23:NM_014607.3(UBXN4) c.658-137C>G,NM_014607.3(UBXN4) c.658-137C>G:0.55,0.55:NOT_FOUND,NOT_FOUND 2 136528006 rs2304600 A G 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.04073,G/0.9593;Gene=UBXN4/NM_014607.3/1;CC=c.658-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:346:40.70:40.70:0.00:1.00:1.00:0.00:60:62.2:0:0:43:108:23:NM_014607.3(UBXN4) c.658-135A>G,NM_014607.3(UBXN4) c.658-135A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 136528306 . G . . NT END=136529989;NT GT ./. 2 136529897 rs78323601 T TA 7 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;PC=0.002;Gene=UBXN4/NM_014607.3/1;CC=c.823-81_823-80insA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:T,TA,D:36:32:3:4:30,3,3:883,98,117:0.00,6.86,5.97:0.00,5.76,2.92:0.00,1.11,3.05:0.00,0.38,0.00:0.00,0.83,0.00:0.00,0.60,0.00:60,60,60:11.3,0.0,17.7:0,0,1:0,0,0:56,43,20:95,106,119:34,6,15:-,NM_014607.3(UBXN4) c.823-93_823-92insA:-,NOT_FOUND:-,NOT_FOUND 2 136530118 . G . . NT END=136533818;NT GT ./. 2 136533922 . G . . NT END=136536517;NT GT ./. 2 136536650 . G . . NT END=136537752;NT GT ./. 2 136536892 rs397745466 CA C 23 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CA/0.04073,C/0.9593;DB;DBA=NA;PAF=CA/0.04073,C/0.9593;NP=403;PC=0.001;Gene=UBXN4/NM_014607.3/1;CC=c.1185+251delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:CA,C:8:0:0:7:1,7:35,206:0.00,22.62:0.00,0.00:0.00,22.62:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,27.0:0,0:0,0:141,99:8,51:0,31:-,NM_014607.3(UBXN4) c.1185+244delA:-,NOT_FOUND:-,NOT_FOUND 2 136537956 . G . . NT END=136540318;NT GT ./. 2 136540458 . T . . NT END=136545893;NT GT ./. 2 136545844 rs1042712 C G 94 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.2604,G/0.7396;Gene=LCT/NM_002299.2/1;CC=c.*50G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:C,G:26:23:0:0:1,25:20,834:0.00,93.50:0.00,76.38:0.00,17.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:175.0,35.6:0,0:0,0:68,34:83,117:0,16:NM_002299.2(LCT) c.*50G>C,NM_002299.2(LCT) c.*50G>C:0.75,0.75:0.787867,0.787867 2 136546110 rs2278544 A G 155 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.5585,G/0.4415;Gene=LCT/NM_002299.2/1;CC=c.5568T>C;ProtCh=p.A1856=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:A,G:45:22:0:0:1,44:35,1362:0.00,155.06:0.00,44.63:0.00,110.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,37.8:0,0:0,0:90,98:9,51:0,30:NM_002299.2(LCT) c.5568T>C (p.(=)),NM_002299.2(LCT) c.5568T>C (p.(=)):0.49,0.49:0.630478,0.630478 2 136546115 . C . . NT END=136547140;NT GT ./. 2 136547369 . C . . NT END=136548227;NT GT ./. 2 136548116 rs892717 G C 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.04073,C/0.9593;Gene=LCT/NM_002299.2/1;CC=c.5335+112C>G;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:639:72.96:72.96:0.00:1.00:1.00:0.00:60:100.7:0:0:29:122:20:NM_002299.2(LCT) c.5335+112C>G,NM_002299.2(LCT) c.5335+112C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 136548169 rs892716 A G 120 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.04073,G/0.9593;PC=0.012;Gene=LCT/NM_002299.2/1;CC=c.5335+59T>C;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:G:32:31:0:0:32:1044:119.62:108.19:11.43:1.00:1.00:1.00:60:85.5:0:0:55:95:30:NM_002299.2(LCT) c.5335+59T>C,NM_002299.2(LCT) c.5335+59T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 136548192 rs1808756 G A 141 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.04073,A/0.9593;Gene=LCT/NM_002299.2/1;CC=c.5335+36C>T;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:36:0:0:38:1231:141.16:110.65:30.51:1.00:1.00:1.00:60:77.1:0:0:60:91:30:NM_002299.2(LCT) c.5335+36C>T,NM_002299.2(LCT) c.5335+36C>T:0.97,0.97:0.969091,0.969091 2 136548452 . C . . NT END=136552210;NT GT ./. 2 136552346 . C . . NT END=136555598;NT GT ./. 2 136552512 rs67420228 A AC 26 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2336;NP=5;Gene=LCT/NM_002299.2/1;CC=c.4977-168dupG;VC=Intron;DM=LCT/Glyco_hydro_1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:AC:8:0:8:0:8:219:25.70:0.00:25.70:1.00:0.00:1.00:60:33.9:0:0:91:58:17:NM_002299.2(LCT) c.4977-168_4977-167insG,NM_002299.2(LCT) c.4977-168_4977-167insG:1,1:NOT_FOUND,NOT_FOUND 2 136552526 rs3816155 A C 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2608,C/0.7392;Gene=LCT/NM_002299.2/1;CC=c.4977-181T>G;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:276:31.89:0.00:31.89:1.00:0.00:1.00:60:33.7:0:0:104:47:20:NM_002299.2(LCT) c.4977-181T>G,NM_002299.2(LCT) c.4977-181T>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 136552603 rs150578954 A ACG 27 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=66;PC=0.002;Gene=LCT/NM_002299.2/1;CC=c.4977-259_4977-258insCG;VC=Intron;DM=LCT/Glyco_hydro_1;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,ACG:9:3:8:0:1,8:30,245:0.00,26.95:0.00,5.39:0.00,21.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,12.0:0,0:0,0:137,59:14,91:0,20:-,NM_002299.2(LCT) c.4977-259_4977-258insCG:-,NOT_FOUND:-,NOT_FOUND 2 136555659 rs2322659 T C 157 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.5573,C/0.4427;Gene=LCT/NM_002299.2/1;CC=c.4916A>G;ProtCh=p.N1639S;VC=Missense;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:26:0:0:41:1370:156.54:76.17:80.38:1.00:1.00:1.00:60:47.1:0:0:73:68:30:NM_002299.2(LCT) c.4916A>G (p.Asn1639Ser),NM_002299.2(LCT) c.4916A>G (p.Asn1639Ser):0.49,0.49:0.617715,0.617715 2 136555709 . C . . NT END=136558176;NT GT ./. 2 136558157 rs748841 C T 115 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.6278,T/0.3722;Gene=LCT/NM_002299.2/1;CC=c.4866+20G>A;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:27:0:0:33:990:114.62:72.87:41.76:1.00:1.00:1.00:60:38.5:0:0:42:108:26:NM_002299.2(LCT) c.4866+20G>A,NM_002299.2(LCT) c.4866+20G>A:0.43,0.43:0.556128,0.556128 2 136558380 . C . . NT END=136561499;NT GT ./. 2 136561557 rs2304371 G A 185 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.3399,A/0.6601;PC=0.011;Gene=LCT/NM_002299.2/1;CC=c.4606C>T;ProtCh=p.L1536=;VC=Silent;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:A:52:36:0:0:52:1600:184.66:106.95:77.70:1.00:1.00:1.00:60:38.0:0:0:94:51:31:NM_002299.2(LCT) c.4606C>T (p.(=)),NM_002299.2(LCT) c.4606C>T (p.(=)):0.68,0.68:0.695602,0.695602 2 136561699 . C . . NT END=136562336;NT GT ./. 2 136562628 . C . . NT END=136564697;NT GT ./. 2 136562813 rs10928548 T C 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.02077,C/0.9792;PC=0.003;Gene=LCT/NM_002299.2/1;CC=c.4174-186A>G;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:0:0:0:14:415:48.17:0.00:48.17:1.00:0.00:1.00:60:31.9:0:0:129:20:19:NM_002299.2(LCT) c.4174-186A>G,NM_002299.2(LCT) c.4174-186A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 136564967 . C . . NT END=136566012;NT GT ./. 2 136565028 rs10928549 C G 168 nt VT=SNV;PN=A;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.02077,G/0.9792;Gene=LCT/NM_002299.2/1;CC=c.3905-62G>C;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:18:0:0:43:1478:168.23:50.71:117.52:1.00:1.00:1.00:60:39.2:0:0:107:43:25:NM_002299.2(LCT) c.3905-62G>C,NM_002299.2(LCT) c.3905-62G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 136567564 . C . . NT END=136569880;NT GT ./. 2 136567633 rs6430591 A G 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.02077,G/0.9792;Gene=LCT/NM_002299.2/1;CC=c.2354-70T>C;VC=Intron;DM=LCT/Glyco_hydro_1;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A,C,G:30:4:0:0:1,1,28:9,10,932:0.00,0.26,104.76:0.00,0.00,11.59:0.00,0.26,93.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:92.0,125.0,39.2:0,0,0:0,0,0:104,83,91:47,55,60:0,0,37:NM_002299.2(LCT) c.2354-70T>C,NM_002299.2(LCT) c.2354-70T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 136569848 rs12988076 C A 121 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.6438,A/0.3562;Gene=LCT/NM_002299.2/1;CC=c.2353+33G>T;VC=Intron;DM=LCT/Glyco_hydro_1;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:27:0:0:33:1051:120.81:89.31:31.50:1.00:1.00:1.00:60:37.3:0:0:39:112:17:NM_002299.2(LCT) c.2353+33G>T,NM_002299.2(LCT) c.2353+33G>T:0.42,0.42:0.540231,0.540231 2 136570527 . C . . NT END=136574910;NT GT ./. 2 136575199 rs6719488 G T 352 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.644,T/0.356;Gene=LCT/NM_002299.2/1;CC=c.1419C>A;ProtCh=p.G473=;VC=Silent;DM=LCT/Glyco_hydro_1;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:94:57:0:0:94:3077:352.33:175.49:176.84:1.00:1.00:1.00:60:41.6:0:0:88:59:39:NM_002299.2(LCT) c.1419C>A (p.(=)),NM_002299.2(LCT) c.1419C>A (p.(=)):0.42,0.42:0.541135,0.541135 2 136575534 rs4954449 T C 291 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.02077,C/0.9792;PC=1.000;Gene=LCT/NM_002299.2/1;CC=c.1084A>G;ProtCh=p.I362V;VC=Missense;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:78:45:0:0:78:2545:291.46:128.22:163.24:1.00:1.00:1.00:60:45.3:0:0:75:75:36:NM_002299.2(LCT) c.1084A>G (p.Ile362Val),NM_002299.2(LCT) c.1084A>G (p.Ile362Val):0.98,0.98:0.978395,0.978395 2 136575632 . C . . NT END=136579589;NT GT ./. 2 136579669 . C . . NT END=136581470;NT GT ./. 2 136581354 rs895284 T G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.02077,G/0.9792;Gene=LCT/NM_002299.2/1;CC=c.907+117A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G:6:6:0:0:6:120:14.72:14.72:0.00:1.00:1.00:0.00:60:57.3:0:0:46:104:33:NM_002299.2(LCT) c.907+117A>C,NM_002299.2(LCT) c.907+117A>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 136581574 . C . . NT END=136587162;NT GT ./. 2 136586958 rs10186843 C A 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6432,A/0.3568;PC=0.001;Gene=LCT/NM_002299.2/1;CC=c.804+205G>T;VC=Intron;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:299:34.19:34.19:0.00:1.00:1.00:0.00:60:33.2:0:0:46:105:19:NM_002299.2(LCT) c.804+205G>T,NM_002299.2(LCT) c.804+205G>T:0.42,0.42:NOT_FOUND,NOT_FOUND 2 136587247 . C . . NT END=136590680;NT GT ./. 2 136587400 rs60681905 A AGTGTGT 11 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2216,AGT/.,AGTGT/.,AGTGTGT/.,AGTGTGTGT/.,AGTGTGTGTGT/0.7784;DB;DBA=NA;PAF=NA;NP=3;PC=0.023;Gene=LCT/NM_002299.2/1;CC=c.721-155_721-154insACACAC;VC=Intron;DM=LCT/Glyco_hydro_1;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,G,AGTGTGT:11:2:4:0:6,1,4:205,24,122:0.00,1.59,11.17:0.00,-0.02,2.94:0.00,1.61,8.23:0.00,0.00,0.82:0.00,0.00,0.66:0.00,0.00,0.98:60,60,60:0.0,94.0,29.2:0,0,0:0,0,0:118,37,87:27,114,63:7,0,4:-,NM_002299.2(LCT) c.721-155_721-154insACACAC:-,NOT_FOUND:-,NOT_FOUND 2 136590761 . C . . NT END=136594099;NT GT ./. 2 136594158 rs2236783 G A 269 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.6516,A/0.3484;Gene=LCT/NM_002299.2/1;CC=c.582C>T;ProtCh=p.T194=;VC=Silent;DM=LCT/Glyco_hydro_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:76:61:0:0:75,1:2334,18:268.53,0.53:177.16,0.53:91.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.8,104.0:0,0:0,0:63,53:87,97:35,0:NM_002299.2(LCT) c.582C>T (p.(=)),NM_002299.2(LCT) c.582C>T (p.(=)):0.41,0.41:0.542288,0.542288 2 136594740 . T . . NT END=136598404;NT GT ./. 2 136598522 . C . . NT END=136602114;NT GT ./. 2 136602255 . C . . NT END=136603806;NT GT ./. 2 136603963 . C . . NT END=136605622;NT GT ./. 2 136605759 . C . . NT END=136608971;NT GT ./. 2 136609134 . C . . NT END=136610356;NT GT ./. 2 136610486 . C . . NT END=136614297;NT GT ./. 2 136610598 rs4988226 A G 81 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.6635,G/0.3365;PC=0.001;Gene=MCM6/NM_005915.5/1;CC=c.1627-113T>C;VC=Intron;DM=MCM6/MCM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G,T:25:1:0:0:24,1:702,11:81.10,0.37:3.86,0.00:77.24,0.37:1.00,0.00:0.97,0.00:1.00,0.00:60,60:40.2,201.0:0,0:0,0:99,67:51,79:42,0:NM_005915.5(MCM6) c.1627-113T>C,NM_005915.5(MCM6) c.1627-113T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 2 136614255 rs309180 G A 171 nt VT=SNV;PN=C;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.6637,A/0.3363;Gene=MCM6/NM_005915.5/1;CC=c.1626+43C>T;VC=Intron;DM=MCM6/MCM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A,G:48:44:0:0:47,1:1501,7:170.98,0.00:145.01,0.00:25.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,18.0:0,0:0,0:72,98:79,53:31,0:NM_005915.5(MCM6) c.1626+43C>T,NM_005915.5(MCM6) c.1626+43C>T:0.4,0.4:0.5336,0.5336 2 136614454 . C . . NT END=136615466;NT GT ./. 2 136615575 . C . . NT END=136616870;NT GT ./. 2 136616754 rs182549 C T 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8367,T/0.1633;Gene=MCM6/NM_005915.5/1;CC=c.1362+117G>A;VC=Intron;DM=MCM6/MCM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:9:0:0:10:285:33.26:30.08:3.18:1.00:1.00:1.00:60:36.9:0:0:41:109:29:NM_005915.5(MCM6) c.1362+117G>A,NM_005915.5(MCM6) c.1362+117G>A:0.23,0.23:NOT_FOUND,NOT_FOUND 2 136617013 . C . . NT END=136620176;NT GT ./. 2 136620319 . C . . NT END=136622582;NT GT ./. 2 136622734 . C . . NT END=136623701;NT GT ./. 2 136622825 rs309177 A G 86 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.02077,G/0.9792;Gene=MCM6/NM_005915.5/1;CC=c.928-92T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:3:0:0:23:751:86.07:7.20:78.86:1.00:1.00:1.00:60:40.6:0:0:97:54:23:NM_005915.5(MCM6) c.928-92T>C,NM_005915.5(MCM6) c.928-92T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 136623848 . C . . NT END=136624132;NT GT ./. 2 136624299 . C . . NT END=136626180;NT GT ./. 2 136626431 . C . . NT END=136627820;NT GT ./. 2 136627932 . C . . NT END=136630266;NT GT ./. 2 136629993 rs309129 A G 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.02077,G/0.9792;Gene=MCM6/NM_005915.5/1;CC=c.254+274T>C;VC=Intron;DM=MCM6/MCM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:183:21.13:21.13:0.00:1.00:1.00:0.00:60:47.5:0:0:57:94:19:NM_005915.5(MCM6) c.254+274T>C,NM_005915.5(MCM6) c.254+274T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 136630414 . C . . NT END=136633828;NT GT ./. 2 136633927 rs201537325 G A 143 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=G/0.998,A/0.001997;NP=15;PC=0.943;Gene=MCM6/NM_005915.5/1;CC=c.9C>T;ProtCh=p.L3=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:73:0:0:50,59:1522,1963:143.22,0.00:66.12,0.00:77.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,5.3:0,0:0,0:90,94:46,53:24,25:NM_005915.5(MCM6) c.9C>T (p.(=)),-:0.0018,-:0.001896,- 2 136633936 . A . . NT END=136664885;NT GT ./. 2 136664812 . CT C 10 rn VT=DEL;SST=Single;DP=18;NP=2;PC=0.024;Gene=DARS/NM_001293312.1/0;CC=c.*73delA;VC=3UTR;Gene=DARS/NM_001349.3/1;CC=c.*73delA;VC=3UTR;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:CT,I,C:17:18:2:4:12,1,4:371,67,125:0.00,2.33,10.49:0.00,2.34,10.54:0.00,-0.01,-0.05:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.48:60,60,60:37.0,57.0,37.0:0,1,0:0,0,0:49,38,47:78,112,102:34,12,3:-,NM_001349.2(DARS) c.*55A[18]:-,NOT_FOUND:-,NOT_FOUND 2 136664978 . C . . NT END=136668708;NT GT ./. 2 136668781 . C . . NT END=136668951;NT GT ./. 2 136669064 . C . . NT END=136670055;NT GT ./. 2 136670137 . C . . NT END=136672038;NT GT ./. 2 136672082 . C . . NT END=136673795;NT GT ./. 2 136673943 . C . . NT END=136678022;NT GT ./. 2 136678171 . C . . NT END=136680353;NT GT ./. 2 136680489 . C . . NT END=136681956;NT GT ./. 2 136682069 . C . . NT END=136690352;NT GT ./. 2 136690413 . C . . NT END=136691479;NT GT ./. 2 136690414 . T TA 13 idl,rn VT=INS;SST=Single;DP=51;PC=0.999;Gene=DARS/NM_001293312.1/0;CC=c.205-3_205-2insT;VC=Intron;Gene=DARS/NM_001349.3/1;CC=c.505-3_505-2insT;VC=Intron;DM=DARS/tRNA-synt_2;DM=DARS/tRNA_anti-codon;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:T,TA,D:48:33:7:6:39,6,3:1107,217,147:0.00,13.49,5.23:0.00,6.21,0.76:0.00,7.27,4.47:0.00,0.85,0.00:0.00,0.95,0.00:0.00,0.96,0.00:60,60,60:26.5,13.0,10.0:0,1,2:0,0,0:97,81,114:53,70,37:31,9,14:-,NM_001349.2(DARS) c.505-3_505-2insT:-,NOT_FOUND:-,NOT_FOUND 2 136691561 . C . . NT END=136700947;NT GT ./. 2 136701051 . C . . NT END=136718965;NT GT ./. 2 136719069 . C . . NT END=136736843;NT GT ./. 2 136736937 . C . . NT END=136740966;NT GT ./. 2 136741025 . C . . NT END=136742972;NT GT ./. 2 136743039 . C . . NT END=136872438;NT GT ./. 2 136873814 . C . . NT END=136875615;NT GT ./. 2 136875631 . G . . NT END=137639748;NT GT ./. 2 136875782 . T G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:G,T:18:0:0:0:7,11:130,293:11.08,0.00:0.00,0.00:11.08,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:155.7,31.3:0,0:0,0:55,126:80,25:11,15:NM_003467.2(CXCR4) c.-95-u57A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 136875792 . A G 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;PC=0.061 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,G:15:0:0:0:10,5:216,82:0.00,6.43:0.00,0.00:0.00,6.43:0.00,0.89:0.00,0.00:0.00,0.89:60,60:71.0,144.8:0,0:0,0:122,57:29,86:21,18:-,NM_003467.2(CXCR4) c.-95-u67T>C:-,NOT_FOUND:-,NOT_FOUND 2 136875799 . A G 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:14:0:0:0:8,6:184,77:0.00,6.36:0.00,0.00:0.00,6.36:0.00,0.96:0.00,0.00:0.00,0.96:60,60:58.8,160.7:0,0:0,0:129,68:22,71:17,8:-,NM_003467.2(CXCR4) c.-95-u74T>C:-,NOT_FOUND:-,NOT_FOUND 2 136875802 . C G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,G:13:0:0:0:7,6:141,85:0.00,7.49:0.00,0.00:0.00,7.49:0.00,0.97:0.00,0.00:0.00,0.97:60,60:64.3,164.0:0,0:0,0:128,78:23,53:18,18:-,NM_003467.2(CXCR4) c.-95-u77G>C:-,NOT_FOUND:-,NOT_FOUND 2 136875807 . T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:G,T:12:0:0:0:7,5:133,97:13.06,0.00:0.00,0.00:13.06,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:143.0,86.6:0,0:0,0:80,133:55,18:26,9:NM_003467.2(CXCR4) c.-95-u82A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 136888916 rs6737656 T C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.07448,C/0.9255;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:4:0:0:6:162:19.01:10.96:8.05:1.00:1.00:1.00:60:43.5:0:0:115:34:18:chr2 g.136888915T>C (intergenic),chr2 g.136888915T>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 2 136956640 rs61193776 G GA 18 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=558;PC=0.940;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:G,GA,D:12:13:7:1:5,6,1:145,217,33:0.00,17.81,2.49:0.00,17.81,2.49:0.00,0.00,0.00:0.00,0.97,0.00:0.00,0.97,0.00:0.00,0.00,0.00:60,60,60:15.6,27.3,0.0:0,1,0:0,0,0:35,42,49:116,109,102:33,6,0:-,chr2 g.136956640_136956641insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 137086802 rs56105547 G T 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.7386,T/0.2614;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:17:17:0:0:9,8:287,216:0.00,20.27:0.00,20.27:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:17.0,38.2:0,0:0,0:63,51:87,98:19,29:-,chr2 g.137086801G>T (intergenic):-,0.27:-,NOT_FOUND 2 137087324 rs13003740 A G 128 nt VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.4413,G/0.5587;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:75:16:0:0:31,43,1:979,1297,11:0.00,128.34,-0.02:0.00,25.46,-0.03:0.00,102.87,0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.5,60.2,98.0:0,0,0:0,0,0:82,81,50:69,57,88:49,26,0:-,chr2 g.137087323A>G (intergenic):-,0.59:-,NOT_FOUND 2 137087576 rs5011377 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4371,G/0.5629 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G:12:0:0:0:5,7:161,236:0.00,23.40:0.00,0.00:0.00,23.40:0.00,0.99:0.00,0.00:0.00,0.99:60,60:4.6,62.9:0,0:0,0:89,87:62,64:33,20:-,chr2 g.137087575A>G (intergenic):-,0.59:-,NOT_FOUND 2 137087590 rs5011376 G A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.733,A/0.267;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:A,G:12:0:0:0:7,5:225,144:22.32,0.00:0.00,0.00:22.32,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:62.6,4.6:0,0:0,0:90,103:61,48:26,33:chr2 g.137087589G>A (intergenic),-:0.27,-:NOT_FOUND,- 2 137234766 rs71400543 T TTG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=264;NP=4;NP=4;PC=0.351;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TTG:4:3:3:0:1,3:34,100:0.00,10.45:0.00,3.35:0.00,7.10:0.00,0.85:0.00,0.99:0.00,0.85:60,60:0.0,4.3:0,0:0,0:24,24:34,102:0,13:-,chr2 g.137234766_137234767insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 137276053 rs527580 C T 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3918,T/0.6082;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:260:29.81:26.19:3.63:1.00:1.00:1.00:60:46.4:0:0:24:120:20:chr2 g.137276052C>T (intergenic),chr2 g.137276052C>T (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 2 137276110 rs67183576 CTGTG C 16 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;PC=0.001;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:CTGTG,C:9:9:0:7:4,5:135,208:0.00,15.52:0.00,4.06:0.00,11.46:0.00,0.93:0.00,0.99:0.00,0.99:60,60:61.8,50.0:0,2:0,0:99,57:44,93:19,13:-,chr2 g.137276111_137276114delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 137308239 rs60170414 CGT C 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=191;PC=0.002;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:4:0:5:2:149:6.86:0.75:6.11:0.46:0.87:0.80:60:0.0:3:0:44:96:11:chr2 g.137308240_137308241delGT (intergenic),chr2 g.137308240_137308241delGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 137490416 rs533449078 A AAC 15 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.09844,AAC/0.9016,AACAC/.;NP=438;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AAC:4:3:4:0:4:132:15.11:7.70:7.40:1.00:1.00:1.00:60:8.8:0:0:45:93:13:chr2 g.137490416_137490417insAC (intergenic),chr2 g.137490416_137490417insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 137490441 . A ACG 10 nt VT=INS;SST=Single;DP=6;NP=1;NP=104;PC=0.010;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,ACG:6:5:3:0:3,3:101,102:0.00,9.83:0.00,4.91:0.00,4.91:0.00,0.73:0.00,0.96:0.00,0.96:70,60:56.0,0.0:2,0:0,0:62,65:69,61:20,25:-,chr2 g.137490441_137490442insCG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 137536766 rs35907529 ATATG A 8 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=235;PC=0.002;Gene=THSD7B/NM_001316349/0;CC=c.-36+13511_-36+13514delATGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A:3:2:0:4:3:105:7.90:2.27:5.63:0.85:0.95:0.99:70:30.7:1:0:53:96:21:chr2 g.137536767_137536770delTATG (intergenic),chr2 g.137536767_137536770delTATG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 137639616 rs1465612 C T 72 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.01138,T/0.9886;NP=137;Gene=THSD7B/NM_001316349/0;CC=c.-35-98C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:20:0:0:20:627:72.23:72.23:0.00:1.00:1.00:0.00:60:47.2:0:0:60:90:41:chr2 g.137639615C>T (intergenic),chr2 g.137639615C>T (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 137639888 . G . . NT END=137748461;NT GT ./. 2 137640006 rs397872780 CT C 36 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=118;Gene=THSD7B/NM_001316349/0;CC=c.139+127delT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,C:25:2:0:12:1,12,12:8,380,371:-0.01,0.00,35.60:-0.01,0.00,1.39:-0.00,0.00,34.21:0.00,0.00,1.00:0.00,0.00,0.77:0.00,0.00,1.00:60,60,70:57.0,16.3,8.7:0,0,0:0,0,0:108,122,96:42,28,53:0,21,23:-,chr2 g.137640007delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 137748508 . G . . NT END=137813989;NT GT ./. 2 137814477 rs17727482 C G 431 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.8341,G/0.1659,T/.;PC=0.024;Gene=THSD7B/NM_001316349/0;CC=c.627C>G;ProtCh=p.P209=;VC=Silent;DM=THSD7B/TSP_1;DM=THSD7B/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:120:66:0:0:118,2:3758,22:430.79,0.39:170.54,0.39:260.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,108.0:0,0:0,0:68,98:82,53:37,2:NM_001080427.1(THSD7B) c.534C>G (p.(=)),NM_001080427.1(THSD7B) c.534C>G (p.(=)):0.18,0.18:0.295604,0.295604 2 137814801 . G . . NT END=137852442;NT GT ./. 2 137852692 . G . . NT END=137872693;NT GT ./. 2 137872864 . G . . NT END=137917782;NT GT ./. 2 137872992 rs745908 A G 171 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.5799,G/0.4201;Gene=THSD7B/NM_001316349/0;CC=c.1369+129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G:47:0:0:0:47:1490:171.33:0.00:171.33:1.00:0.00:1.00:60:49.3:0:0:103:47:30:NM_001080427.1(THSD7B) c.1276+129A>G,NM_001080427.1(THSD7B) c.1276+129A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 137917611 rs139134226 A T 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.9876,T/0.01238;PC=0.106;Gene=THSD7B/NM_001316349/0;CC=c.1370-172A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:21:21:0:0:10,11:314,336:0.00,32.52:0.00,32.52:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.7,54.7:0,0:0,0:36,40:114,111:15,25:-,NM_001080427.1(THSD7B) c.1277-172A>T:-,0.01:-,NOT_FOUND 2 137917922 rs4954474 T A 141 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.7179,A/0.2821;PC=1.000;Gene=THSD7B/NM_001316349/0;CC=c.1509T>A;ProtCh=p.D503E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:94:46:0:0:48,1,45:1461,12,1490:140.94,-0.05,0.00:45.51,-0.06,0.00:95.42,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.6,43.0,5.8:0,0,0:0,0,0:92,104,79:56,47,70:33,0,38:NM_001080427.1(THSD7B) c.1416T>A (p.Asp472Glu),-:0.28,-:0.38864,- 2 137917939 . G . . NT END=137928310;NT GT ./. 2 137928509 . G . . NT END=137988613;NT GT ./. 2 137968879 rs10652398 A ATTAC 10 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.399,ATTAC/0.601;NP=372;NP=5;Gene=THSD7B/NM_001316349/0;CC=c.1724-19733_1724-19732insACTT;VC=Intron;DM=THSD7B/TSP_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,ATTAC:4:4:3:0:1,3:34,100:0.00,10.45:0.00,8.88:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,4.7:0,0:0,0:77,98:71,53:0,0:-,NM_001080427.1(THSD7B) c.1631-19735_1631-19734insTTAC:-,NOT_FOUND:-,NOT_FOUND 2 137988806 . G . . NT END=137990468;NT GT ./. 2 137990704 . G . . NT END=138000026;NT GT ./. 2 138000143 . G . . NT END=138030102;NT GT ./. 2 138000226 rs7605259 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.05731,C/0.9427;Gene=THSD7B/NM_001316349/0;CC=c.2266+84T>C;VC=Intron;DM=THSD7B/TSP_1;DM=THSD7B/TSP_1;DM=THSD7B/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:C,T:13:0:0:0:9,4:233,138:24.08,0.00:0.00,0.00:24.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.2,10.2:0,0:0,0:107,28:44,121:28,6:NM_001080427.1(THSD7B) c.2173+84T>C,-:0.94,-:NOT_FOUND,- 2 138030233 . G . . NT END=138033492;NT GT ./. 2 138033597 . G . . NT END=138163182;NT GT ./. 2 138163378 . G . . NT END=138169178;NT GT ./. 2 138163391 rs1551281 T C 295 nt VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.1202,C/0.8798;PC=0.020;Gene=THSD7B/NM_001316349/0;CC=c.2695+14T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:79:23:0:0:79:2572:294.71:50.71:244.00:1.00:1.00:1.00:60:45.9:0:0:100:48:22:NM_001080427.1(THSD7B) c.2602+14T>C,NM_001080427.1(THSD7B) c.2602+14T>C:0.88,0.88:0.873838,0.873838 2 138163542 rs1551280 A T 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.01278,T/0.9872;Gene=THSD7B/NM_001316349/0;CC=c.2695+165A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:473:53.98:0.00:53.98:1.00:0.00:1.00:60:61.3:0:0:95:55:33:NM_001080427.1(THSD7B) c.2602+165A>T,NM_001080427.1(THSD7B) c.2602+165A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 138169158 rs1463285 T C 265 nt VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.02017,C/0.9798;Gene=THSD7B/NM_001316349/0;CC=c.2696-21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:63:0:0:70:2320:265.32:200.70:64.62:1.00:1.00:1.00:60:38.8:0:0:54:91:27:NM_001080427.1(THSD7B) c.2603-21T>C,NM_001080427.1(THSD7B) c.2603-21T>C:0.98,0.98:0.986313,0.986313 2 138169443 . G . . NT END=138208414;NT GT ./. 2 138208594 . G . . NT END=138209607;NT GT ./. 2 138208631 rs1453302 G T 164 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.2847,T/0.7153;Gene=THSD7B/NM_001316349/0;CC=c.3138+38G>T;VC=Intron;DM=THSD7B/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:T:45:14:0:0:45:1430:164.37:38.22:126.15:1.00:1.00:1.00:60:37.9:0:0:105:45:31:NM_001080427.1(THSD7B) c.3045+38G>T,NM_001080427.1(THSD7B) c.3045+38G>T:0.72,0.72:0.685649,0.685649 2 138209614 . A . . NT END=138320790;NT GT ./. 2 138320164 rs3048475 T TTGTG 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=131;NP=8;Gene=THSD7B/NM_001316349/0;CC=c.3139-590_3139-589insGTGT;VC=Intron;DM=THSD7B/TSP_1;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TTGTG:5:3:3:0:2,3:45,95:0.00,9.49:0.00,4.43:0.00,5.05:0.00,0.78:0.00,0.94:0.00,0.94:60,60:21.5,48.7:0,0:0,0:70,14:81,137:35,2:-,NM_001080427.1(THSD7B) c.3052-627_3052-626insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 138320925 . G . . NT END=138329975;NT GT ./. 2 138330127 . G . . NT END=138373744;NT GT ./. 2 138373887 . G . . NT END=138375961;NT GT ./. 2 138376078 . G . . NT END=138378178;NT GT ./. 2 138378297 . G . . NT END=138400057;NT GT ./. 2 138400204 . G . . NT END=138413070;NT GT ./. 2 138413231 . G . . NT END=138414365;NT GT ./. 2 138414540 . G . . NT END=138414634;NT GT ./. 2 138414731 . G . . NT END=138417233;NT GT ./. 2 138417317 . G . . NT END=138420952;NT GT ./. 2 138421146 . G . . NT END=138425343;NT GT ./. 2 138425432 . G . . NT END=138434093;NT GT ./. 2 138434176 . T . . NT END=138722061;NT GT ./. 2 138604957 rs4398318 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4641,C/0.5359;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:154:17.78:11.23:6.55:1.00:1.00:1.00:60:55.4:0:0:75:76:35:chr2 g.138604956T>C (intergenic),chr2 g.138604956T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 138721942 rs67985366 ATT A 54 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=ATT/0.4435,A/0.5565;DB;DBA=NA;PAF=ATT/0.4435,A/0.5565;NP=6;Gene=HNMT/NM_001024074.2/0;CC=c.-104_-103delTT;VC=5UTR;Gene=HNMT/NM_001024075.1/0;CC=c.-104_-103delTT;VC=5UTR;Gene=HNMT/NM_006895.2/1;CC=c.-104_-103delTT;VC=5UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:ATT,I,A:23:29:2:22:6,1,16:185,64,708:0.00,2.21,53.69:0.00,2.21,51.94:0.00,0.00,1.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.82:60,60,60:33.0,147.0,25.2:0,1,6:0,0,0:79,19,41:69,132,105:47,15,26:-,NM_006895.2(HNMT) c.-119T[15]:-,NOT_FOUND:-,NOT_FOUND 2 138722199 . G . . NT END=138727734;NT GT ./. 2 138727607 rs3100702 G A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6148,A/0.3852;Gene=HNMT/NM_001024075.1/0;CC=c.138-128G>A;VC=Intron;Gene=HNMT/NM_006895.2/1;CC=c.138-128G>A;VC=Intron;DM=HNMT/Methyltransf_23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:7:7:0:0:4,3:115,98:11.32,0.00:11.32,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:28.8,16.7:0,0:0,0:50,46:100,104:14,9:NM_006895.2(HNMT) c.138-128G>A,-:0.38,-:NOT_FOUND,- 2 138727788 . G . . NT END=138738785;NT GT ./. 2 138738956 . g . . NT END=138758487;NT GT ./. 2 138758596 . G . . NT END=138759633;NT GT ./. 2 138759765 . G . . NT END=138759853;NT GT ./. 2 138759813 rs4646325 A G 87 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.9764,G/0.02356;PC=0.008;Gene=HNMT/NM_006895.2/1;CC=c.429+49A>G;VC=Intron;DM=HNMT/Methyltransf_23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:29:0:0:24,27:789,896:0.00,87.11:0.00,49.03:0.00,38.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.1,38.3:0,0:0,0:60,105:90,45:39,24:-,NM_006895.2(HNMT) c.429+49A>G:-,0.03:-,0.020992 2 138760041 . g . . NT END=138760296;NT GT ./. 2 138760339 . G . . NT END=138762701;NT GT ./. 2 138762796 . G . . NT END=138771344;NT GT ./. 2 138762843 rs62622815 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9914,A/0.008586;Gene=HNMT/NM_006895.2/1;CC=c.523+48G>A;VC=Intron;DM=HNMT/Methyltransf_23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:4:0:0:8,8:254,268:24.40,0.00:3.38,0.00:21.02,0.00:1.00,0.00:0.51,0.00:1.00,0.00:60,60:31.8,5.0:0,0:0,0:67,118:83,23:42,14:NM_006895.2(HNMT) c.523+48G>A,-:0.01,-:0.013457,- 2 138762873 rs397694154 C CTT 22 sb,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7849,CTT/0.2151;DB;DBA=NA;PAF=C/0.7849,CTT/0.2151;DB;DBA=NA;PAF=C/0.7849,CTT/0.2151;NP=1154;Gene=HNMT/NM_006895.2/1;CC=c.523+79_523+80dupTT;VC=Intron;DM=HNMT/Methyltransf_23;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,CTT:10:2:7:0:3,7:105,216:0.00,22.28:0.00,1.20:0.00,21.09:0.00,1.00:0.00,0.92:0.00,1.00:60,70:0.0,31.0:0,0:0,0:134,90:17,60:0,26:-,NM_006895.2(HNMT) c.523+78_523+79insTT:-,0.2:-,NOT_FOUND 2 138771052 rs1378319 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6979,G/0.3021;PC=0.001;Gene=HNMT/NM_006895.2/1;CC=c.524-293A>G;VC=Intron;DM=HNMT/Methyltransf_23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,C,G:9:9:0:0:4,1,4:119,11,119:0.00,0.47,11.38:0.00,0.47,11.38:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,60:0.0,104.0,33.2:0,0,0:0,0,0:60,100,47:90,49,104:7,0,17:-,NM_006895.2(HNMT) c.524-293A>G:-,0.27:-,NOT_FOUND 2 138771219 rs12475006 G A 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.7546,A/0.2454;PC=0.154;Gene=HNMT/NM_006895.2/1;CC=c.524-126G>A;VC=Intron;DM=HNMT/Methyltransf_23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:11,11:328,366:31.40,0.00:31.40,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.1,1.5:0,0:0,0:60,25:88,124:25,13:NM_006895.2(HNMT) c.524-126G>A,-:0.22,-:NOT_FOUND,- 2 138771701 . C . . NT END=139307786;NT GT ./. 2 138771760 rs1050891 A G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7546,G/0.2454;Gene=HNMT/NM_006895.2/1;CC=c.*60A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:1:0:0:9,6:245,207:0.00,19.20:0.00,-0.22:0.00,19.42:0.00,1.00:0.00,0.60:0.00,1.00:60,60:7.0,46.3:0,0:0,0:125,68:25,83:17,24:-,NM_006895.2(HNMT) c.*60A>G:-,0.22:-,NOT_FOUND 2 139036688 rs6757587 C G 210 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.1771,G/0.8229;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:G:59:32:0:0:59:1817:209.53:73.12:136.41:1.00:1.00:1.00:60:43.3:0:0:91:59:34:chr2 g.139036687C>G (intergenic),chr2 g.139036687C>G (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 2 139036797 rs6728323 G A 140 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.1779,A/0.8221;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:12:0:0:39:1211:139.51:34.19:105.31:1.00:1.00:1.00:60:43.8:0:0:82:69:37:chr2 g.139036796G>A (intergenic),chr2 g.139036796G>A (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 2 139037063 rs397958661 C CA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4281,CA/0.5719,CAA/.;DB;DBA=NA;PAF=C/0.4281,CA/0.5719;NP=459;PC=0.020;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:A,C,CA:6:0:3:0:1,2,3:11,42,96:0.67,0.00,9.54:0.00,0.00,0.00:0.67,0.00,9.54:0.00,0.00,0.73:0.00,0.00,0.00:0.00,0.00,0.73:60,60,60:274.0,20.0,7.7:0,1,0:0,0,0:0,88,121:151,62,29:0,61,10:-,chr2 g.139037063_139037064insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 139045444 rs11900034 T A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6326,A/0.3674;NP=1;NP=468;PC=0.090 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,T:6:6:0:0:5,1:167,33:17.91,0.00:17.91,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:95.4,33.0:0,1:0,0:82,22:69,125:11,0:chr2 g.139045443T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 139045445 rs11900035 T A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3143,A/0.6857;NP=1;NP=448;PC=0.080 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:178:20.62:20.62:0.00:1.00:1.00:0.00:60:85.0:1:0:76:74:13:chr2 g.139045444T>A (intergenic),chr2 g.139045444T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 139045972 rs6733578 T C 200 nt VT=SNV;PN=A;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.2037,C/0.7963;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:A,C:54:31:0:0:1,53:10,1756:0.17,200.39:0.17,93.17:0.00,107.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:220.0,38.1:0,0:0,0:52,62:89,89:0,36:chr2 g.139045971T>C (intergenic),chr2 g.139045971T>C (intergenic):0.8,0.8:NOT_FOUND,NOT_FOUND 2 139046301 rs12691943 A G 287 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.2039,G/0.7961;PC=0.978 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:79:40:0:0:1,78:18,2498:0.53,286.51:0.00,98.43:0.53,188.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:54.0,53.8:0,0:0,0:129,66:21,81:0,39:chr2 g.139046300A>G (intergenic),chr2 g.139046300A>G (intergenic):0.8,0.8:NOT_FOUND,NOT_FOUND 2 139046385 rs13382964 G A 182 nt VT=SNV;PN=G;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.2037,A/0.7963 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:A,T:51:14:0:0:50,1:1587,10:181.99,0.18:28.06,0.00:153.93,0.18:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.0,219.0:0,0:0,0:103,80:45,70:24,0:chr2 g.139046384G>A (intergenic),chr2 g.139046384G>A (intergenic):0.8,0.8:NOT_FOUND,NOT_FOUND 2 139065123 rs7564491 T C 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.07648,C/0.9235;PC=0.780 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:11:0:0:14:447:51.35:33.08:18.27:1.00:1.00:1.00:60:41.0:0:0:111:39:37:chr2 g.139065122T>C (intergenic),chr2 g.139065122T>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 139065411 rs4954919 G A 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.07688,A/0.9231;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:9:0:0:17:537:61.80:24.15:37.65:1.00:1.00:1.00:60:47.1:0:0:76:73:39:chr2 g.139065410G>A (intergenic),chr2 g.139065410G>A (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 2 139065617 rs62164253 T C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6092,C/0.3908;PC=0.215 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:2:0:0:7:248:28.14:4.03:24.11:1.00:1.00:1.00:60:35.4:0:0:102:48:6:chr2 g.139065616T>C (intergenic),chr2 g.139065616T>C (intergenic):0.39,0.39:NOT_FOUND,NOT_FOUND 2 139307865 . G . . NT END=139308052;NT GT ./. 2 139308127 rs35257103 G A 108 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.9828,A/0.01717;PC=1.000;Gene=SPOPL/NM_001001664.2/1;CC=c.153G>A;ProtCh=p.V51=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:65:41:0:0:34,31:1112,1057:107.88,0.00:46.95,0.00:60.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,2.6:0,0:0,0:61,68:81,71:35,33:NM_001001664.2(SPOPL) c.153G>A (p.(=)),-:0.03,-:0.047608,- 2 139308175 . G . . NT END=139308472;NT GT ./. 2 139308397 rs66690846 TTC T 30 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=230;PC=0.064;Gene=SPOPL/NM_001001664.2/1;CC=c.201-55_201-54delTC;VC=Intron;DM=SPOPL/MATH;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:TTC,I,T:31:25:10:11:12,9,10:334,330,347:0.00,27.77,30.02:0.00,22.39,22.74:0.00,5.38,7.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:36.8,28.6,7.6:0,1,1:0,0,0:129,37,40:21,104,110:8,15,11:-,NM_001001664.2(SPOPL) c.201-75_201-74delTC:-,NOT_FOUND:-,NOT_FOUND 2 139308625 . G . . NT END=139310123;NT GT ./. 2 139310252 . G . . NT END=139312008;NT GT ./. 2 139312106 . G . . NT END=139316591;NT GT ./. 2 139312815 rs7565514 A G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02296,G/0.977;NP=7;Gene=SPOPL/NM_001001664.2/1;CC=c.480+2564A>G;VC=Intron;DM=SPOPL/MATH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:131:15.01:7.05:7.95:1.00:1.00:1.00:60:59.5:0:0:107:42:4:NM_001001664.2(SPOPL) c.480+2564A>G,NM_001001664.2(SPOPL) c.480+2564A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 139312853 rs188573094 G A,T 11 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9978,A/0.002196;NP=10;PC=0.001;DM=SPOPL/MATH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:17:A,T:4:1:0:0:3,1:101,22:11.16,2.08:0.00,2.08:11.16,0.00:0.85,0.00:0.83,0.00:0.99,0.00:60,60:57.0,58.0:0,0:0,0:109,150:42,1:34,0:NM_001001664.2(SPOPL) c.480+2602G>A,NM_001001664.2(SPOPL) c.480+2602G>T:0.01,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 139316770 . G . . NT END=139316851;NT GT ./. 2 139316908 . G . . NT END=139318374;NT GT ./. 2 139318332 rs397868606 CT C 91 rn VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=856;PC=0.001;Gene=SPOPL/NM_001001664.2/1;CC=c.715-30delT;VC=Intron;DM=SPOPL/BTB;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,G,I,C:68:54:3:30:34,1,3,30:1059,12,98,956:0.00,-0.00,6.50,90.67:0.00,0.08,4.63,62.05:0.00,-0.09,1.87,28.63:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:21.9,40.0,0.0,9.5:0,0,0,0:0,0,0,0:57,126,81,45:87,15,67,92:27,0,27,27:-,NM_001001664.2(SPOPL) c.715-42delT:-,NOT_FOUND:-,NOT_FOUND 2 139318498 . G . . NT END=139322277;NT GT ./. 2 139322421 . G . . NT END=139322509;NT GT ./. 2 139322564 . G . . NT END=139326505;NT GT ./. 2 139326651 . A . . NT END=139428491;NT GT ./. 2 139326879 rs2889266 G C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.02296,C/0.977;NP=1071;PC=1.000;Gene=SPOPL/NM_001001664.2/1;CC=c.*229G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C,T:8:0:0:0:7,1:237,11:26.63,0.72:0.00,0.00:26.63,0.72:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.0,178.0:0,0:0,0:87,121:63,30:37,0:NM_001001664.2(SPOPL) c.=,NM_001001664.2(SPOPL) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 2 139429068 rs10803570 G A 215 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.3415,A/0.6585;PC=0.998;Gene=NXPH2/NM_007226.2/1;CC=c.219C>T;ProtCh=p.Y73=;VC=Silent;DM=NXPH2/Neurexophilin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:139:94:0:0:68,71:2242,2271:214.76,0.00:124.00,0.00:90.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,10.4:0,0:0,0:91,65:59,84:28,37:NM_007226.2(NXPH2) c.219C>T (p.(=)),-:0.68,-:0.752155,- 2 139429236 . C . . NT END=139537760;NT GT ./. 2 139537812 . G . . NT END=140990754;NT GT ./. 2 139659956 rs17660836 C T 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8654,T/0.1346;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:8:8:0:0:3,5:104,162:0.00,16.29:0.00,16.29:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:3.7,39.2:0,0:0,0:115,52:36,99:0,29:-,chr2 g.139659955C>T (intergenic):-,0.12:-,NOT_FOUND 2 139825461 rs62171880 T TAC 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=74;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:T,TAC,D:4:3:2:1:1,2,1:33,67,19:0.00,6.75,1.65:0.00,3.38,-0.06:0.00,3.38,1.71:0.00,0.51,0.00:0.00,0.89,0.00:0.00,0.51,0.00:60,60,60:0.0,0.0,46.0:0,0,0:0,0,0:39,48,68:31,93,83:0,23,0:-,chr2 g.139825461_139825462insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 140359801 rs397978649 G GGT 13 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8438,T/0.1562;DB;DBA=NA;PAF=G/0.7664,GGT/0.2336,GGTGTGT/.,GT/.;DB;DBA=NA;PAF=NA;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GGT:4:3:4:0:4:115:13.40:6.20:7.20:1.00:1.00:1.00:60:0.0:0:0:24:93:17:chr2 g.140359801_140359802insGT (intergenic),chr2 g.140359801_140359802insGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 140506368 rs12465560 T C 20 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.629,C/0.371;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:173:19.68:13.67:6.02:1.00:1.00:1.00:60:88.6:5:0:54:87:23:chr2 g.140506367T>C (intergenic),chr2 g.140506367T>C (intergenic):0.37,0.37:NOT_FOUND,NOT_FOUND 2 140506370 rs374628654 T TACACACAC 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TACACACAC:2:5:5:0:2:167:6.76:1.64:5.12:0.46:0.46:0.80:60:230.0:3:0:56:85:23:chr2 g.140506370_140506371insACACACAC (intergenic),chr2 g.140506370_140506371insACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 140506374 rs59816310 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:177:20.08:12.03:8.05:1.00:1.00:1.00:60:100.6:0:0:47:103:19:chr2 g.140506373T>C (intergenic),chr2 g.140506373T>C (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 2 140990896 . C . . NT END=140995720;NT GT ./. 2 140995866 . C . . NT END=140997010;NT GT ./. 2 140997102 . C . . NT END=141004654;NT GT ./. 2 141004529 rs2129483 A G 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.11,G/0.89;Gene=LRP1B/NM_018557.2/1;CC=c.13324+126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:307:35.47:35.47:0.00:1.00:1.00:0.00:60:34.3:0:0:17:133:7:NM_018557.2(LRP1B) c.13324+126T>C,NM_018557.2(LRP1B) c.13324+126T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 141004732 . C . . NT END=141027810;NT GT ./. 2 141027916 . C . . NT END=141031992;NT GT ./. 2 141032088 rs1386356 C T 109 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.5138,T/0.4862;PC=0.957;Gene=LRP1B/NM_018557.2/1;CC=c.13047G>A;ProtCh=p.T4349=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:42:0:0:33,35:1038,1127:0.00,108.98:0.00,49.18:0.00,59.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,36.3:0,0:0,0:83,89:68,62:36,37:-,NM_018557.2(LRP1B) c.13047G>A (p.(=)):-,0.54:-,0.531985 2 141032168 . C . . NT END=141055376;NT GT ./. 2 141032372 rs397789393 T TAAGAG 13 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.09305,TAAGAG/.,TAAGAGAAGAG/0.9069;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=132;PC=0.054;Gene=LRP1B/NM_018557.2/1;CC=c.12968-210_12968-206dupCTCTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:T,TAAGAG:7:0:4:0:3,4:86,135:0.00,13.33:0.00,0.00:0.00,13.33:0.00,0.90:0.00,0.00:0.00,0.90:60,60:52.0,0.0:1,0:0,0:149,119:1,31:0,8:-,NM_018557.2(LRP1B) c.12968-206_12968-205insCTCTT:-,0.91:-,NOT_FOUND 2 141055539 . C . . NT END=141072503;NT GT ./. 2 141072669 . C . . NT END=141079531;NT GT ./. 2 141072930 rs673723 C T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5192,T/0.4808;Gene=LRP1B/NM_018557.2/1;CC=c.12641-262G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:32.2:0:0:123:28:21:NM_018557.2(LRP1B) c.12641-262G>A,NM_018557.2(LRP1B) c.12641-262G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 2 141079658 . C . . NT END=141081461;NT GT ./. 2 141081636 . C . . NT END=141083330;NT GT ./. 2 141083159 rs654051 T G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.357,G/0.643;Gene=LRP1B/NM_018557.2/1;CC=c.12340+172A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:G,T:7:7:0:0:3,4:84,80:7.78,0.00:7.78,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:42.3,90.0:0,0:0,0:95,58:56,91:36,5:NM_018557.2(LRP1B) c.12340+172A>C,-:0.68,-:NOT_FOUND,- 2 141083448 . C . . NT END=141092021;NT GT ./. 2 141092129 . C . . NT END=141093183;NT GT ./. 2 141093408 . C . . NT END=141108365;NT GT ./. 2 141108608 . C . . NT END=141110521;NT GT ./. 2 141110642 . C . . NT END=141113910;NT GT ./. 2 141113739 rs70985093 C CACAA 11 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.651,CACAA/0.349;DB;DBA=NA;PAF=C/0.651,CACAA/0.349;NP=861;Gene=LRP1B/NM_018557.2/1;CC=c.11530+168_11530+171dupTTGT;VC=Intron;DM=LRP1B/EGF_CA;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:C,CACAA:11:11:4:0:7,4:203,127:0.00,11.48:0.00,11.48:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,70:25.7,31.5:0,0:0,0:26,35:125,114:23,11:-,NM_018557.2(LRP1B) c.11530+171_11530+172insTTGT:-,NOT_FOUND:-,NOT_FOUND 2 141113798 rs13017246 G A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.7782,A/0.2218;PC=0.073;Gene=LRP1B/NM_018557.2/1;CC=c.11530+113C>T;VC=Intron;DM=LRP1B/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:25:24:0:0:10,14,1:322,468,8:29.89,0.00,-0.04:30.22,0.00,-0.02:-0.33,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:0.70,0.00,0.00:60,60,60:35.8,3.6,121.0:0,0,0:0,0,0:17,31,85:133,119,66:12,25,0:NM_018557.2(LRP1B) c.11530+113C>T,-:0.24,-:NOT_FOUND,- 2 141114046 . C . . NT END=141115547;NT GT ./. 2 141115686 . C . . NT END=141116389;NT GT ./. 2 141116516 . C . . NT END=141122229;NT GT ./. 2 141122353 . C . . NT END=141128278;NT GT ./. 2 141127927 rs649284 G C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5387,C/0.4613;Gene=LRP1B/NM_018557.2/1;CC=c.11008+352C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:7:7:0:0:3,4:101,132:9.46,0.00:9.46,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:61.7,0.0:0,0:0,0:9,47:142,104:8,30:NM_018557.2(LRP1B) c.11008+352C>G,-:0.48,-:NOT_FOUND,- 2 141128001 rs17386883 C G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7804,G/0.2196;Gene=LRP1B/NM_018557.2/1;CC=c.11008+278G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,G:8:8:0:0:5,3:169,97:0.00,8.83:0.00,8.83:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:4.6,80.7:0,0:0,0:89,75:62,76:61,8:-,NM_018557.2(LRP1B) c.11008+278G>C:-,0.24:-,NOT_FOUND 2 141128412 . C . . NT END=141128747;NT GT ./. 2 141128855 . C . . NT END=141130576;NT GT ./. 2 141128977 rs634115 C T 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6436,T/0.3564;Gene=LRP1B/NM_018557.2/1;CC=c.10769-123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:17:0:0:0:6,11:177,374:0.00,37.86:0.00,0.00:0.00,37.86:0.00,1.00:0.00,0.00:0.00,1.00:60,60:12.5,47.2:0,0:0,0:127,102:23,48:11,28:-,NM_018557.2(LRP1B) c.10769-123G>A:-,0.36:-,NOT_FOUND 2 141130501 rs77729177 T C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.9465,C/0.05351;PC=0.002;Gene=LRP1B/NM_018557.2/1;CC=c.10768+76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:28:0:0:15,14:426,490:40.99,0.00:35.68,0.00:5.31,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:32.3,9.6:0,0:0,0:52,90:99,60:22,37:NM_018557.2(LRP1B) c.10768+76A>G,-:0.07,-:NOT_FOUND,- 2 141130707 . C . . NT END=141135748;NT GT ./. 2 141135856 . C . . NT END=141143461;NT GT ./. 2 141136007 rs652923 T C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7406,C/0.2594;Gene=LRP1B/NM_018557.2/1;CC=c.10532-152A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:C,T:11:0:0:0:4,7:108,229:9.56,0.00:0.00,0.00:9.56,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:29.2,16.3:0,0:0,0:95,112:55,39:47,6:NM_018557.2(LRP1B) c.10532-152A>G,-:0.27,-:NOT_FOUND,- 2 141143579 . C . . NT END=141200072;NT GT ./. 2 141148337 rs70985096 TCACACA T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=112;Gene=LRP1B/NM_018557.2/1;CC=c.10415-4765_10415-4760delTGTGTG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TCACACA,T:3:4:0:3:1,2:32,101:0.00,6.85:0.00,5.01:0.00,1.84:0.00,0.51:0.00,0.51:0.00,0.89:60,60:24.0,17.0:0,1:0,0:10,68:132,70:0,9:-,NM_018557.2(LRP1B) c.10415-4765_10415-4760delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 141199904 rs1878741 C T 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8375,T/0.1625;PC=0.003;Gene=LRP1B/NM_018557.2/1;CC=c.10414+169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:8,8:246,258:0.00,24.81:0.00,24.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.9,36.9:0,0:0,0:87,54:63,96:44,34:-,NM_018557.2(LRP1B) c.10414+169G>A:-,0.17:-,NOT_FOUND 2 141200193 . C . . NT END=141201898;NT GT ./. 2 141201763 rs4992954 T C 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.02416,C/0.9758;Gene=LRP1B/NM_018557.2/1;CC=c.10294+136A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:435:49.70:49.70:0.00:1.00:1.00:0.00:60:39.8:0:0:46:104:29:NM_018557.2(LRP1B) c.10294+136A>G,NM_018557.2(LRP1B) c.10294+136A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 141202019 . C . . NT END=141202131;NT GT ./. 2 141202249 . C . . NT END=141208136;NT GT ./. 2 141202369 rs11902052 G C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8319,C/0.1681;PC=0.002;Gene=LRP1B/NM_018557.2/1;CC=c.10058-121C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:0:0:0:7,9:204,284:18.96,0.00:0.00,0.00:18.96,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:51.3,10.9:0,0:0,0:118,93:32,58:25,30:NM_018557.2(LRP1B) c.10058-121C>G,-:0.18,-:NOT_FOUND,- 2 141208231 . C . . NT END=141214023;NT GT ./. 2 141214173 . C . . NT END=141215031;NT GT ./. 2 141215221 . C . . NT END=141232706;NT GT ./. 2 141232907 . C . . NT END=141242911;NT GT ./. 2 141243094 . C . . NT END=141245185;NT GT ./. 2 141245309 . C . . NT END=141250176;NT GT ./. 2 141250263 . C . . NT END=141253133;NT GT ./. 2 141253318 . C . . NT END=141259255;NT GT ./. 2 141253408 rs11683334 T C 92 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4579,C/0.5421;Gene=LRP1B/NM_018557.2/1;CC=c.8851-91A>G;VC=Intron;DM=LRP1B/cEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:2:0:0:25:806:92.44:3.93:88.51:1.00:1.00:1.00:60:42.8:0:0:107:40:31:NM_018557.2(LRP1B) c.8851-91A>G,NM_018557.2(LRP1B) c.8851-91A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 141259032 rs72899892 A G 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8536,G/0.1464;Gene=LRP1B/NM_018557.2/1;CC=c.8850+224T>C;VC=Intron;DM=LRP1B/cEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,G:8:8:0:0:4,4:111,89:0.00,8.30:0.00,8.30:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:15.0,83.5:0,0:0,0:8,82:142,68:5,24:-,NM_018557.2(LRP1B) c.8850+224T>C:-,0.15:-,NOT_FOUND 2 141259283 rs35296183 G A 89 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.8956,A/0.1044;PC=0.279;Gene=LRP1B/NM_018557.2/1;CC=c.8823C>T;ProtCh=p.D2941=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:41:0:0:29,27:925,897:89.47,0.00:56.13,0.00:33.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.1,2.0:0,0:0,0:72,66:69,81:39,32:NM_018557.2(LRP1B) c.8823C>T (p.(=)),-:0.11,-:0.171459,- 2 141259376 rs35164907 G A 80 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.8738,A/0.1262;PC=1.000;Gene=LRP1B/NM_018557.2/1;CC=c.8730C>T;ProtCh=p.C2910=;VC=Silent;DM=LRP1B/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:26:0:0:26,25:827,774:79.77,0.00:25.63,0.00:54.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.4,4.5:0,0:0,0:80,67:70,75:39,37:NM_018557.2(LRP1B) c.8730C>T (p.(=)),-:0.14,-:0.206674,- 2 141259444 . C . . NT END=141260531;NT GT ./. 2 141260507 rs4450541 T C 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.7917,C/0.2083;Gene=LRP1B/NM_018557.2/1;CC=c.8662+25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:28:0:0:22,13:715,444:71.93,0.00:47.19,0.00:24.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,0.0:0,0:0,0:67,37:83,111:28,8:NM_018557.2(LRP1B) c.8662+25A>G,-:0.2,-:0.295601,- 2 141260668 rs4444457 A G 156 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.4569,G/0.5431;PC=0.994;Gene=LRP1B/NM_018557.2/1;CC=c.8526T>C;ProtCh=p.Y2842=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A,G:45:21:0:0:1,44:33,1375:0.00,156.27:0.00,47.27:0.00,109.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,45.0:0,0:0,0:49,84:102,64:0,29:NM_018557.2(LRP1B) c.8526T>C (p.(=)),NM_018557.2(LRP1B) c.8526T>C (p.(=)):0.56,0.56:0.532754,0.532754 2 141260673 . C . . NT END=141264364;NT GT ./. 2 141260754 rs76928339 G A 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8736,A/0.1264;Gene=LRP1B/NM_018557.2/1;CC=c.8522-82C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:22:3:0:0:13,1,8:375,5,241:37.61,-0.06,0.00:3.55,-0.01,0.00:34.05,-0.05,0.00:1.00,0.00,0.00:0.94,0.00,0.00:1.00,0.00,0.00:60,60,60:65.0,68.0,21.6:0,0,0:0,0,0:123,84,112:28,62,36:19,0,25:NM_018557.2(LRP1B) c.8522-82C>T,-:0.14,-:NOT_FOUND,- 2 141264184 rs72901724 G T 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8704,T/0.1296;PC=0.001;Gene=LRP1B/NM_018557.2/1;CC=c.8521+181C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:23:0:0:10,13:353,384:0.00,37.70:0.00,37.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.0,54.3:0,0:0,0:61,58:89,93:27,39:-,NM_018557.2(LRP1B) c.8521+181C>A:-,0.14:-,NOT_FOUND 2 141264488 . C . . NT END=141267496;NT GT ./. 2 141267626 . C . . NT END=141272221;NT GT ./. 2 141267744 rs1948051 T C 89 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.01218,C/0.9878;NP=2895;Gene=LRP1B/NM_018557.2/1;CC=c.8270-119A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:28:1:0:0:28:765:89.35:1.99:87.36:1.00:1.00:1.00:60:36.9:0:0:103:47:32:NM_018557.2(LRP1B) c.8270-119A>G,NM_018557.2(LRP1B) c.8270-119A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 141267855 rs35559425 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8804,C/0.1196;Gene=LRP1B/NM_018557.2/1;CC=c.8270-230A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:7:0:0:0:5,2:138,69:14.35,0.00:0.00,0.00:14.35,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:49.8,30.0:0,0:0,0:107,116:44,34:5,3:NM_018557.2(LRP1B) c.8270-230A>G,-:0.13,-:NOT_FOUND,- 2 141272057 rs6430906 T A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3025,A/0.6975;Gene=LRP1B/NM_018557.2/1;CC=c.8269+165A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,T:12:12:0:0:3,9:102,283:8.70,0.00:8.70,0.00:0.00,0.00:0.59,0.00:0.59,0.00:0.00,0.00:60,60:44.7,5.4:0,0:0,0:70,28:80,123:13,19:NM_018557.2(LRP1B) c.8269+165A>T,-:0.69,-:NOT_FOUND,- 2 141272342 . C . . NT END=141274457;NT GT ./. 2 141272360 rs199711847 GA G 7 rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=72;PC=0.118;Gene=LRP1B/NM_018557.2/1;CC=c.8150-20delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:GA,I,G:39:16:3:4:32,3,4:983,87,107:0.00,5.69,7.17:0.00,-0.35,2.17:0.00,6.03,4.99:0.00,0.00,0.94:0.00,0.00,0.72:0.00,0.00,0.91:60,60,70:22.4,7.3,7.5:0,0,0:0,0,0:91,75,61:54,76,89:28,4,9:-,NM_018557.2(LRP1B) c.8150-20delT:-,NOT_FOUND:-,NOT_FOUND 2 141274295 rs1542655 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.3331,T/0.6669;Gene=LRP1B/NM_018557.2/1;CC=c.8149+163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:11:11:0:0:6,5:179,159:0.00,15.00:0.00,15.00:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:10.5,34.2:0,0:0,0:50,50:99,99:28,43:-,NM_018557.2(LRP1B) c.8149+163G>A:-,0.66:-,NOT_FOUND 2 141274576 rs4954672 T C 52 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.3576,C/0.6424;PC=1.000;Gene=LRP1B/NM_018557.2/1;CC=c.8031A>G;ProtCh=p.Q2677=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:22:0:0:16,20:553,655:52.19,0.00:21.34,0.00:30.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,1.6:0,0:0,0:103,95:47,54:16,44:NM_018557.2(LRP1B) c.8031A>G (p.(=)),-:0.64,-:0.746693,- 2 141274581 . C . . NT END=141283412;NT GT ./. 2 141283563 . C . . NT END=141283805;NT GT ./. 2 141283603 rs1352047 T G 162 nt VT=SNV;PN=T;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.01777,G/0.9822;Gene=LRP1B/NM_018557.2/1;CC=c.7877-41A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:15:0:0:43:1416:162.02:48.89:113.12:1.00:1.00:1.00:60:39.3:0:0:108:41:24:NM_018557.2(LRP1B) c.7877-41A>C,NM_018557.2(LRP1B) c.7877-41A>C:0.99,0.99:0.981929,0.981929 2 141283920 . C . . NT END=141291589;NT GT ./. 2 141284041 rs7562323 A G 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.08187,G/0.9181;PC=0.021;Gene=LRP1B/NM_018557.2/1;CC=c.7763-122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:357:41.40:0.00:41.40:1.00:0.00:1.00:60:39.2:0:0:63:87:27:NM_018557.2(LRP1B) c.7763-122T>C,NM_018557.2(LRP1B) c.7763-122T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 2 141291380 rs12692059 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4864,A/0.5136;PC=0.001;Gene=LRP1B/NM_018557.2/1;CC=c.7762+210C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:40.0:0:0:50:100:33:NM_018557.2(LRP1B) c.7762+210C>T,NM_018557.2(LRP1B) c.7762+210C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 2 141291710 . C . . NT END=141294149;NT GT ./. 2 141291841 rs10928755 T A 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4836,A/0.5164;Gene=LRP1B/NM_018557.2/1;CC=c.7643-132A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:1:0:0:17:538:61.90:3.88:58.02:1.00:1.00:1.00:60:52.9:0:0:108:43:37:NM_018557.2(LRP1B) c.7643-132A>T,NM_018557.2(LRP1B) c.7643-132A>T:0.53,0.53:NOT_FOUND,NOT_FOUND 2 141291878 rs11695464 C T 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5066,T/0.4934;Gene=LRP1B/NM_018557.2/1;CC=c.7643-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:295:33.79:0.00:33.79:1.00:0.00:1.00:60:69.6:0:0:70:80:26:NM_018557.2(LRP1B) c.7643-169G>A,NM_018557.2(LRP1B) c.7643-169G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 2 141293912 rs6722976 G A,T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4838,T/0.5162;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,T:5:5:0:0:1,4:10,60:0.79,7.41:0.79,7.41:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:167.0,100.5:0,0:0,0:32,51:94,94:0,19:NM_018557.2(LRP1B) c.7642+238C>T,NM_018557.2(LRP1B) c.7642+238C>A:NOT_FOUND,0.5:NOT_FOUND,NOT_FOUND 2 141294279 . C . . NT END=141298541;NT GT ./. 2 141294285 . GA G 17 idl,rn VT=DEL;SST=Single;DP=62;NP=61;PC=0.992;Gene=LRP1B/NM_018557.2/1;CC=c.7514-8delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,GA,T,I,G:59:32:6:9:4,42,1,5,7:62,1223,9,183,289:2.59,0.00,-0.17,11.20,16.74:-0.53,0.00,-0.13,3.30,6.11:3.12,0.00,-0.04,7.90,10.62:0.00,0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.98:60,60,60,60,60:43.2,9.1,19.0,15.4,18.4:1,0,0,1,2:0,0,0,0,0:40,88,15,73,84:97,58,136,75,67:21,37,0,16,42:-,NM_018557.2(LRP1B) c.7514-8delT:-,NOT_FOUND:-,NOT_FOUND 2 141298313 rs397751718 A AC 22 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4948,AC/0.5052;DB;DBA=NA;PAF=A/0.4948,AC/0.5052;NP=492;Gene=LRP1B/NM_018557.2/1;CC=c.7513+228dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:AC:6:6:6:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:14.5:0:0:57:93:23:NM_018557.2(LRP1B) c.7513+228_7513+229insG,NM_018557.2(LRP1B) c.7513+228_7513+229insG:0.51,0.51:NOT_FOUND,NOT_FOUND 2 141298467 rs6729619 A C 88 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.5152,C/0.4848;Gene=LRP1B/NM_018557.2/1;CC=c.7513+75T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:24:0:0:24:764:87.83:68.74:19.08:1.00:1.00:1.00:60:35.5:0:0:31:118:18:NM_018557.2(LRP1B) c.7513+75T>G,NM_018557.2(LRP1B) c.7513+75T>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 141298668 . C . . NT END=141299347;NT GT ./. 2 141298674 rs13013854 T C 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6705,C/0.3295;PC=0.067;Gene=LRP1B/NM_018557.2/1;CC=c.7388-7A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:13:0:0:22,14:685,425:68.53,0.00:13.98,0.00:54.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.6,42.9:0,0:0,0:104,115:42,34:25,23:NM_018557.2(LRP1B) c.7388-7A>G,-:0.34,-:0.348993,- 2 141298682 rs11694934 G C 117 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.4952,C/0.5048,T/.;Gene=LRP1B/NM_018557.2/1;CC=c.7388-15C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:11:0:0:32:1016:116.78:34.25:82.52:1.00:1.00:1.00:60:65.8:0:0:117:34:21:NM_018557.2(LRP1B) c.7388-15C>G,NM_018557.2(LRP1B) c.7388-15C>G:0.51,0.51:0.495233,0.495233 2 141298749 rs11694970 G C 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5365,C/0.4635;Gene=LRP1B/NM_018557.2/1;CC=c.7388-82C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:1:0:0:17:568:64.91:3.98:60.93:1.00:1.00:1.00:60:64.6:0:0:63:88:28:NM_018557.2(LRP1B) c.7388-82C>G,NM_018557.2(LRP1B) c.7388-82C>G:0.47,0.47:NOT_FOUND,NOT_FOUND 2 141299317 rs9287535 A G 148 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.4816,G/0.5184;Gene=LRP1B/NM_018557.2/1;CC=c.7387+31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:36:0:0:39:1299:148.46:121.27:27.19:1.00:1.00:1.00:60:42.8:0:0:66:85:44:NM_018557.2(LRP1B) c.7387+31T>C,NM_018557.2(LRP1B) c.7387+31T>C:0.53,0.53:0.496539,0.496539 2 141299541 . C . . NT END=141356199;NT GT ./. 2 141299721 rs35162718 ATGT A 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ATGT/0.5501,A/0.4499;NP=101;PC=0.046;Gene=LRP1B/NM_018557.2/1;CC=c.7195-184_7195-182delACA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:4:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:68.5:0:0:65:85:11:NM_018557.2(LRP1B) c.7195-184_7195-182delACA,NM_018557.2(LRP1B) c.7195-184_7195-182delACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 141299730 rs72617080 T C 12 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5272,C/0.4728;NP=2;Gene=LRP1B/NM_018557.2/1;CC=c.7195-190A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:101:11.95:0.00:11.95:1.00:0.00:1.00:60:68.5:4:0:71:79:11:NM_018557.2(LRP1B) c.7195-190A>G,NM_018557.2(LRP1B) c.7195-190A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 141299775 rs9678482 C T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5272,T/0.4728;Gene=LRP1B/NM_018557.2/1;CC=c.7195-235G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:68.5:0:0:116:34:11:NM_018557.2(LRP1B) c.7195-235G>A,NM_018557.2(LRP1B) c.7195-235G>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 141312453 rs7604294 G GTGTATA 15 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6993,A/0.3007;Gene=LRP1B/NM_018557.2/1;CC=c.7195-12914_7195-12913insTATACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GTGTATA:4:5:5:0:4:158:14.62:5.77:8.85:0.96:0.96:0.96:70:25.2:1:0:86:26:16:NM_018557.2(LRP1B) c.7195-12914_7195-12913insTATACA,NM_018557.2(LRP1B) c.7195-12914_7195-12913insTATACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 141356405 . C . . NT END=141359018;NT GT ./. 2 141358664 rs200223836 AAAAAC A 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AAAAAC/0.8866,A/0.1134;NP=63;Gene=LRP1B/NM_018557.2/1;CC=c.6989+350_6989+354delGTTTT;VC=Intron;DM=LRP1B/Ldl_recept_b;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AAAAAC,A:4:4:0:3:1,3:34,95:0.00,9.95:0.00,9.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,25.0:0,0:0,0:120,102:30,48:0,13:-,NM_018557.2(LRP1B) c.6989+350_6989+354delGTTTT:-,NOT_FOUND:-,NOT_FOUND 2 141358876 rs34284556 TA T 9 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=359;PC=0.047;Gene=LRP1B/NM_018557.2/1;CC=c.6989+142delT;VC=Intron;DM=LRP1B/Ldl_recept_b;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:TA,T:9:9:0:3:6,3:189,98:0.00,8.74:0.00,8.74:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:27.8,23.7:0,0:0,0:99,61:51,90:28,46:-,NM_018557.2(LRP1B) c.6989+142delT:-,NOT_FOUND:-,NOT_FOUND 2 141359209 . C . . NT END=141457818;NT GT ./. 2 141359287 rs1441465 C T 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.5527,T/0.4473;Gene=LRP1B/NM_018557.2/1;CC=c.6800-79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:6:0:0:18,16:602,482:0.00,45.57:0.00,6.77:0.00,38.79:0.00,1.00:0.00,0.97:0.00,1.00:60,60:4.9,40.1:0,0:0,0:129,122:22,28:17,17:-,NM_018557.2(LRP1B) c.6800-79G>A:-,0.44:-,NOT_FOUND 2 141441298 rs10208923 G A 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1841,A/0.8159;PC=0.003;Gene=LRP1B/NM_018557.2/1;CC=c.6799+16521C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:349:39.67:25.60:14.07:1.00:1.00:1.00:60:47.9:0:0:69:81:27:NM_018557.2(LRP1B) c.6799+16521C>T,NM_018557.2(LRP1B) c.6799+16521C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 2 141441382 rs10928064 A G 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1458,G/0.8542;Gene=LRP1B/NM_018557.2/1;CC=c.6799+16437T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:4:0:0:8:265:30.32:7.70:22.61:1.00:1.00:1.00:60:54.9:0:0:98:25:37:NM_018557.2(LRP1B) c.6799+16437T>C,NM_018557.2(LRP1B) c.6799+16437T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 141457603 rs10754917 G C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2001,C/0.7999;Gene=LRP1B/NM_018557.2/1;CC=c.6799+216C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:216:24.90:24.90:0.00:1.00:1.00:0.00:60:56.4:0:0:12:134:6:NM_018557.2(LRP1B) c.6799+216C>G,NM_018557.2(LRP1B) c.6799+216C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 141458191 . C . . NT END=141459289;NT GT ./. 2 141459415 . C . . NT END=141459709;NT GT ./. 2 141459862 . C . . NT END=141459995;NT GT ./. 2 141460123 . C . . NT END=141473541;NT GT ./. 2 141460317 rs12466110 T A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5791,A/0.4209;Gene=LRP1B/NM_018557.2/1;CC=c.6024-195A>T;VC=Intron;DM=LRP1B/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:253:29.51:0.00:29.51:1.00:0.00:1.00:60:44.0:0:0:116:35:11:NM_018557.2(LRP1B) c.6024-195A>T,NM_018557.2(LRP1B) c.6024-195A>T:0.47,0.47:NOT_FOUND,NOT_FOUND 2 141473409 rs10716305 CA C 41 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CA/0.6238,C/0.3762;NP=1248;PC=0.001;Gene=LRP1B/NM_018557.2/1;CC=c.6023+132delT;VC=Intron;DM=LRP1B/Ldl_recept_b;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:CA,C:13:13:0:12:1,12:12,372:0.00,41.48:0.00,41.48:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:59.0,37.0:0,0:0,0:135,40:2,109:0,24:NM_018557.2(LRP1B) c.6023+132delT,NM_018557.2(LRP1B) c.6023+132delT:0.41,0.41:NOT_FOUND,NOT_FOUND 2 141473505 rs4954852 A T 120 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.5803,T/0.4197;PC=0.002;Gene=LRP1B/NM_018557.2/1;CC=c.6023+37T>A;VC=Intron;DM=LRP1B/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C,T:33:31:0:0:1,32:12,1057:0.36,120.50:0.36,87.01:0.00,33.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.0,41.8:0,0:0,0:11,56:139,84:0,24:NM_018557.2(LRP1B) c.6023+37T>A,NM_018557.2(LRP1B) c.6023+37T>A:0.45,0.45:0.515844,0.515844 2 141473672 . C . . NT END=141474250;NT GT ./. 2 141473786 rs17513410 C T 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6026,T/0.3974;Gene=LRP1B/NM_018557.2/1;CC=c.5894-115G>A;VC=Intron;DM=LRP1B/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:330:37.77:0.00:37.77:1.00:0.00:1.00:60:41.4:0:0:126:23:14:NM_018557.2(LRP1B) c.5894-115G>A,NM_018557.2(LRP1B) c.5894-115G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 2 141474386 . C . . NT END=141526781;NT GT ./. 2 141474402 rs5834770 G GA 135 idl,rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.5375,GA/0.4625;DB;DBA=NA;PAF=G/0.5375,GA/0.4625,GAA/.;DB;DBA=NA;PAF=G/0.5375,GA/0.4625;NP=2382;Gene=LRP1B/NM_018557.2/1;CC=c.5759-18dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G,GA:45:20:41:0:1,5,39:25,160,1299:1.27,0.00,135.19:-0.00,0.00,43.17:1.28,0.00,92.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:96.0,67.6,29.0:0,1,2:0,0,0:0,60,76:151,90,72:0,46,26:-,NM_018557.2(LRP1B) c.5759-18_5759-17insT:-,NOT_FOUND:-,0.563109 2 141474456 rs1372255 C T 162 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6014,T/0.3986;Gene=LRP1B/NM_018557.2/1;CC=c.5759-71G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:T:45:11:0:0:45:1402:161.57:28.58:133.00:1.00:1.00:1.00:60:44.1:0:0:97:49:21:NM_018557.2(LRP1B) c.5759-71G>A,NM_018557.2(LRP1B) c.5759-71G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 2 141526600 rs397712674 A AT 20 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2794,AT/0.7206;DB;DBA=NA;PAF=A/0.2794,AT/0.7206;NP=564;Gene=LRP1B/NM_018557.2/1;CC=c.5758+181dupA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:AT:6:6:6:0:6:168:19.64:19.64:0.00:1.00:1.00:0.00:60:81.3:0:0:38:107:15:NM_018557.2(LRP1B) c.5758+181_5758+182insA,NM_018557.2(LRP1B) c.5758+181_5758+182insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 141526914 . C . . NT END=141528449;NT GT ./. 2 141527013 rs13002947 A G 96 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.226,G/0.774;PC=0.001;Gene=LRP1B/NM_018557.2/1;CC=c.5627-100T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:8:0:0:28:828:96.00:14.07:81.93:1.00:1.00:1.00:60:37.4:0:0:116:34:17:NM_018557.2(LRP1B) c.5627-100T>C,NM_018557.2(LRP1B) c.5627-100T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 141528576 . C . . NT END=141533666;NT GT ./. 2 141528592 rs7599219 T C 105 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=LRP1B/NM_018557.2/1;CC=c.5501-17A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:14:0:0:30:904:104.58:30.16:74.42:1.00:1.00:1.00:60:39.6:0:0:92:52:39:NM_018557.2(LRP1B) c.5501-17A>G,NM_018557.2(LRP1B) c.5501-17A>G:0.89,0.89:0.838382,0.838382 2 141533662 rs996361 T C 142 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.1448,C/0.8552;PC=0.733;Gene=LRP1B/NM_018557.2/1;CC=c.5500+5A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:C:38:33:0:0:38:1244:142.45:105.32:37.13:1.00:1.00:1.00:60:35.6:0:0:47:89:26:NM_018557.2(LRP1B) c.5500+5A>G,NM_018557.2(LRP1B) c.5500+5A>G:0.89,0.89:0.838382,0.838382 2 141533808 . C . . NT END=141571225;NT GT ./. 2 141571329 rs3749010 T C 133 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.1548,C/0.8452,G/.;PC=0.002;Gene=LRP1B/NM_018557.2/1;CC=c.5256A>G;ProtCh=p.S1752=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:C:39:21:0:0:39:1150:133.49:55.11:78.38:1.00:1.00:1.00:60:42.7:0:0:64:87:45:NM_018557.2(LRP1B) c.5256A>G (p.(=)),NM_018557.2(LRP1B) c.5256A>G (p.(=)):0.86,0.86:0.836998,0.836998 2 141571376 . C . . NT END=141597559;NT GT ./. 2 141571440 rs17575847 C G 82 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5683,G/0.4317;Gene=LRP1B/NM_018557.2/1;CC=c.5210-65G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:7:0:0:21:716:81.59:18.30:63.29:1.00:1.00:1.00:70:71.7:0:0:118:32:23:NM_018557.2(LRP1B) c.5210-65G>C,NM_018557.2(LRP1B) c.5210-65G>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 141571456 rs60071104 G GA 55 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2415;Gene=LRP1B/NM_018557.2/1;CC=c.5210-82dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,GA:19:7:17:0:2,17:67,499:0.00,55.22:0.00,15.43:0.00,39.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.0,64.8:0,0:0,0:144,98:4,53:1,36:-,NM_018557.2(LRP1B) c.5210-82_5210-81insT:-,NOT_FOUND:-,NOT_FOUND 2 141571480 rs17575875 A G 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5685,G/0.4315;PC=0.001;Gene=LRP1B/NM_018557.2/1;CC=c.5210-105T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A,G:17:2:0:0:1,16:14,489:0.00,54.91:0.00,3.90:0.00,51.01:0.00,1.00:0.00,1.00:0.00,1.00:60,70:74.0,67.0:0,0:0,0:77,83:73,66:0,41:NM_018557.2(LRP1B) c.5210-105T>C,NM_018557.2(LRP1B) c.5210-105T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 141571590 rs59455054 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5509,T/0.4491;PC=0.001;Gene=LRP1B/NM_018557.2/1;CC=c.5210-215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:54.7:0:0:115:36:6:NM_018557.2(LRP1B) c.5210-215G>A,NM_018557.2(LRP1B) c.5210-215G>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 141597655 . C . . NT END=141598486;NT GT ./. 2 141598473 rs78477398 A AT 134 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.02117,AT/0.9776;DB;DBA=NA;PAF=A/0.02117,T/0.001198;NP=3405;PC=1.000;Gene=LRP1B/NM_018557.2/1;CC=c.5114+13_5114+14insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:AT:37:33:38:0:37:1203:134.22:93.05:41.17:1.00:1.00:1.00:70:6.9:1:0:66:75:47:NM_018557.2(LRP1B) c.5114+13_5114+14insA,NM_018557.2(LRP1B) c.5114+13_5114+14insA:0.98,0.98:0.978115,0.978115 2 141598662 . C . . NT END=141607670;NT GT ./. 2 141607899 . C . . NT END=141609220;NT GT ./. 2 141609353 . C . . NT END=141625158;NT GT ./. 2 141624902 rs12474883 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.221,C/0.779;Gene=LRP1B/NM_018557.2/1;CC=c.4579+257A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C,G:9:9:0:0:8,1:246,9:27.98,0.51:27.98,0.51:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.5,42.0:0,0:0,0:32,57:118,93:14,0:NM_018557.2(LRP1B) c.4579+257A>G,NM_018557.2(LRP1B) c.4579+257A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 141625404 . C . . NT END=141625667;NT GT ./. 2 141625541 . CA C 10 rn VT=DEL;SST=Single;DP=53;NP=20;Gene=LRP1B/NM_018557.2/1;CC=c.4334+126delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,CA,C:52:28:0:6:1,46,5:9,1452,182:-0.24,0.00,10.10:-0.19,0.00,11.10:-0.06,0.00,-1.00:0.00,0.00,0.71:0.00,0.00,0.85:0.00,0.00,0.83:60,60,60:33.0,10.6,13.4:0,0,1:0,0,0:40,99,103:110,50,46:0,40,19:-,NM_018557.2(LRP1B) c.4334+126delT:-,NOT_FOUND:-,NOT_FOUND 2 141625823 . G A 10 sb VT=SNV;PN=A;NN=A;SST=Single;DP=74;PC=1.000;Gene=LRP1B/NM_018557.2/1;CC=c.4179C>T;ProtCh=p.F1393=;VC=Silent;DM=LRP1B/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G,T:74:29:0:0:9,64,1:178,1988,7:10.50,0.00,-0.33:-1.30,0.00,-0.14:11.80,0.00,-0.19:0.97,0.00,0.00:0.93,0.00,0.00:1.00,0.00,0.00:60,60,60:80.1,23.0,53.0:0,1,0:0,0,0:84,90,78:66,47,37:32,31,0:NM_018557.2(LRP1B) c.4179C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 141625833 . C . . NT END=141641385;NT GT ./. 2 141625834 rs542341871 TA T 13 idl,rn VT=DEL;SST=Single;DP=70;DB;DBA=NA;PAF=TA/0.5831,T/0.4169;DB;DBA=NA;PAF=TA/0.5831,T/0.4169;NP=7;PC=0.801;Gene=LRP1B/NM_018557.2/1;CC=c.4170-3delT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,TA,I,T:65:31:9:8:3,50,6,6:30,1403,270,249:0.04,0.00,12.54,12.74:-0.27,0.00,7.19,8.50:0.30,0.00,5.35,4.25:0.00,0.00,0.00,0.80:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.96:60,60,60,60:99.0,31.2,52.0,23.3:0,0,3,2:0,0,0,0:50,98,94,69:89,37,49,77:13,26,20,10:-,NM_018557.2(LRP1B) c.4170-3delT:-,NOT_FOUND:-,NOT_FOUND 2 141638822 rs5834785 A AGT 15 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6569,AGT/0.3419,AGTGT/.;DB;DBA=NA;PAF=A/0.6569,T/0.001198;DB;DBA=NA;PAF=A/0.6569,AGT/0.3419,AGTGT/.;NP=1;NP=25;NP=316;Gene=LRP1B/NM_018557.2/1;CC=c.4169+2563_4169+2564insAC;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AGT:4:4:4:0:4:126:14.51:9.19:5.31:1.00:1.00:1.00:60:17.2:0:0:60:90:20:NM_018557.2(LRP1B) c.4169+2563_4169+2564insAC,NM_018557.2(LRP1B) c.4169+2563_4169+2564insAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 141641591 . C . . NT END=141643706;NT GT ./. 2 141643905 . C . . NT END=141660488;NT GT ./. 2 141656433 rs1864277 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1382,G/0.8618;PC=0.593;Gene=LRP1B/NM_018557.2/1;CC=c.3766+4056T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:167:19.08:3.48:15.61:1.00:1.00:1.00:60:44.6:0:0:51:100:44:NM_018557.2(LRP1B) c.3766+4056T>C,NM_018557.2(LRP1B) c.3766+4056T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 141660735 . C . . NT END=141665445;NT GT ./. 2 141665647 . C . . NT END=141680533;NT GT ./. 2 141680717 . C . . NT END=141707803;NT GT ./. 2 141707694 rs1980343 C T 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1272,T/0.8728;PC=0.004;Gene=LRP1B/NM_018557.2/1;CC=c.3136+110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:17:0:0:17:526:60.69:60.69:0.00:1.00:1.00:0.00:60:38.1:0:0:41:110:21:NM_018557.2(LRP1B) c.3136+110G>A,NM_018557.2(LRP1B) c.3136+110G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 141707972 . C . . NT END=141709428;NT GT ./. 2 141709419 rs1429348 T G 101 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.4635,G/0.5365;PC=0.258;Gene=LRP1B/NM_018557.2/1;CC=c.2968+10A>C;VC=Intron;DM=LRP1B/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:18:0:0:27:878:100.63:49.50:51.14:1.00:1.00:1.00:60:37.1:0:0:67:84:25:NM_018557.2(LRP1B) c.2968+10A>C,NM_018557.2(LRP1B) c.2968+10A>C:0.55,0.55:0.568122,0.568122 2 141709510 . C . . NT END=141739728;NT GT ./. 2 141739846 . C . . NT END=141747100;NT GT ./. 2 141747227 . C . . NT END=141751563;NT GT ./. 2 141747249 rs1429365 A T 76 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.4726,G/.,T/0.5274;Gene=LRP1B/NM_018557.2/1;CC=c.2645-23T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:60:19:0:0:34,26:1074,819:0.00,76.48:0.00,14.18:0.00,62.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,65.4:0,0:0,0:78,85:65,64:31,25:-,NM_018557.2(LRP1B) c.2645-23T>A:-,0.5:-,0.421036 2 141747293 rs1429366 T C 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.5136,C/0.4864;Gene=LRP1B/NM_018557.2/1;CC=c.2645-67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:12:0:0:19,25:596,782:55.57,0.00:11.24,0.00:44.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.1,15.1:0,0:0,0:125,92:24,59:16,29:NM_018557.2(LRP1B) c.2645-67A>G,-:0.47,-:NOT_FOUND,- 2 141751461 rs11678316 C T 35 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.6252,T/0.3748;Gene=LRP1B/NM_018557.2/1;CC=c.2644+103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:21:0:0:10,12:347,360:0.00,35.10:0.00,34.20:0.00,0.90:0.00,1.00:0.00,1.00:0.00,0.98:60,60:5.4,44.3:0,0:0,0:57,75:92,74:18,38:-,NM_018557.2(LRP1B) c.2644+103G>A:-,0.36:-,NOT_FOUND 2 141751592 rs13007735 G A 67 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.4904,A/0.5096;PC=0.002;Gene=LRP1B/NM_018557.2/1;CC=c.2616C>T;ProtCh=p.D872=;VC=Silent;DM=LRP1B/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:61:47:0:0:22,38,1:733,1143,12:66.69,0.00,-0.04:38.50,0.00,-0.17:28.19,0.00,0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.2,7.5,103.0:0,0,0:0,0,0:71,66,15:70,78,127:27,30,0:NM_018557.2(LRP1B) c.2616C>T (p.(=)),-:0.49,-:0.398739,- 2 141751705 . C . . NT END=141762903;NT GT ./. 2 141762830 rs13413663 C T 69 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.5294,T/0.4706;Gene=LRP1B/NM_018557.2/1;CC=c.2503+74G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:39:0:0:18,24:559,696:0.00,68.54:0.00,54.41:0.00,14.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,42.1:0,0:0,0:51,39:100,111:31,23:-,NM_018557.2(LRP1B) c.2503+74G>A:-,0.48:-,NOT_FOUND 2 141763027 . C . . NT END=141771124;NT GT ./. 2 141771013 rs77546904 G A 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9792,A/0.02077;PC=0.524;Gene=LRP1B/NM_018557.2/1;CC=c.2380+112C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:257,210:25.03,0.00:25.03,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.6,30.3:0,0:0,0:28,16:122,134:13,14:NM_018557.2(LRP1B) c.2380+112C>T,-:0.03,-:NOT_FOUND,- 2 141771058 rs3791766 T A 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.5976,A/0.4024;PC=0.012;Gene=LRP1B/NM_018557.2/1;CC=c.2380+67A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:25:25:0:0:14,11:466,354:45.84,0.00:42.52,0.00:3.32,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:36.6,49.5:0,0:0,0:30,56:120,95:19,21:NM_018557.2(LRP1B) c.2380+67A>T,-:0.42,-:NOT_FOUND,- 2 141771315 . C . . NT END=141773264;NT GT ./. 2 141773485 . C . . NT END=141777490;NT GT ./. 2 141777672 . C . . NT END=141806554;NT GT ./. 2 141777763 rs12615322 G T 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5333,T/0.4667;Gene=LRP1B/NM_018557.2/1;CC=c.1790-92C>A;VC=Intron;DM=LRP1B/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:23:2:0:0:1,1,9,12:9,11,268,325:0.10,0.22,0.00,31.89:-0.01,-0.01,0.00,3.43:0.11,0.23,0.00,28.46:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.81:0.00,0.00,0.00,1.00:60,60,60,60:18.0,143.0,30.8,54.2:0,0,0,0:0,0,0,0:30,41,118,117:105,73,33,33:0,0,32,24:-,NM_018557.2(LRP1B) c.1790-92C>A:-,0.47:-,NOT_FOUND 2 141806410 rs2140871 A C 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1282,C/0.8718;Gene=LRP1B/NM_018557.2/1;CC=c.1789+145T>G;VC=Intron;DM=LRP1B/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:234:26.74:26.74:0.00:1.00:1.00:0.00:60:34.9:0:0:75:75:10:NM_018557.2(LRP1B) c.1789+145T>G,NM_018557.2(LRP1B) c.1789+145T>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 141806792 . C . . NT END=141812684;NT GT ./. 2 141812434 rs6745440 C T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7296,T/0.2704;Gene=LRP1B/NM_018557.2/1;CC=c.1552+251G>A;VC=Intron;DM=LRP1B/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:8:8:0:0:5,3:167,97:0.00,8.83:0.00,8.83:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:23.8,53.3:0,0:0,0:44,19:107,132:19,7:-,NM_018557.2(LRP1B) c.1552+251G>A:-,0.29:-,NOT_FOUND 2 141812829 . C . . NT END=141816451;NT GT ./. 2 141813371 rs143110499 A ATGTGTG 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.4267,ATG/0.5733,ATGTG/.,ATGTGTG/.,ATGTGTGTG/.;NP=187;NP=27;Gene=LRP1B/NM_018557.2/1;CC=c.1409-544_1409-543insCACACA;VC=Intron;DM=LRP1B/Ldl_recept_b;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,ATGTGTG:4:1:4:0:1,3:34,125:0.00,10.27:0.00,3.55:0.00,6.71:0.00,0.78:0.00,0.73:0.00,0.97:60,70:0.0,17.0:0,1:0,0:105,82:36,68:0,4:-,NM_018557.2(LRP1B) c.1409-544_1409-543insCACACA:-,NOT_FOUND:-,NOT_FOUND 2 141816621 rs1525579 A G 109 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.05471,G/0.9453;PC=0.584;Gene=LRP1B/NM_018557.2/1;CC=c.1239T>C;ProtCh=p.V413=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G,T:30:19:0:0:29,1:954,8:108.72,0.17:43.34,0.17:65.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,164.0:0,0:0,0:78,87:63,63:25,0:NM_018557.2(LRP1B) c.1239T>C (p.(=)),NM_018557.2(LRP1B) c.1239T>C (p.(=)):0.95,0.95:0.940484,0.940484 2 141816624 . C . . NT END=141819619;NT GT ./. 2 141816749 rs56299825 CT C 9 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CT/0.9267,C/0.07328;NP=396;PC=0.008;Gene=LRP1B/NM_018557.2/1;CC=c.1237-127delA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:CT,C:9:0:0:3:6,3:208,99:0.00,8.84:0.00,0.00:0.00,8.84:0.00,0.64:0.00,0.00:0.00,0.64:60,60:5.5,22.0:0,0:0,0:69,128:80,22:20,12:-,NM_018557.2(LRP1B) c.1237-127delA:-,0.08:-,NOT_FOUND 2 141819422 rs1525583 G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1973,A/0.8027;Gene=LRP1B/NM_018557.2/1;CC=c.1236+198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,G:5:5:0:0:3,2:86,56:8.57,0.00:8.57,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:35.3,4.5:0,0:0,0:105,83:41,67:44,12:NM_018557.2(LRP1B) c.1236+198C>T,-:0.82,-:NOT_FOUND,- 2 141819843 . C . . NT END=141945989;NT GT ./. 2 141844187 rs36219267 TTGTGTGTG T 7 sb,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=7;PC=0.007;Gene=LRP1B/NM_018557.2/1;CC=c.1014-24353_1014-24346delCACACACA;VC=Intron;DM=LRP1B/FXa_inhibition;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:TTGTGTGTG,T:5:3:0:3:2,3:42,73:0.00,7.21:0.00,-0.18:0.00,7.39:0.00,0.78:0.00,0.94:0.00,0.97:60,60:11.0,0.0:0,0:0,0:83,30:38,114:8,19:-,NM_018557.2(LRP1B) c.1014-24353_1014-24346delCACACACA:-,NOT_FOUND:-,NOT_FOUND 2 141873228 rs67265380 T G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4962,G/0.5038;NP=168;PC=0.014;Gene=LRP1B/NM_018557.2/1;CC=c.1014-53386A>C;VC=Intron;DM=LRP1B/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:G,T:4:3:0:0:2,2:72,67:6.95,0.00:3.63,0.00:3.32,0.00:0.51,0.00:0.89,0.00:0.51,0.00:70,60:41.0,0.0:0,0:0,0:62,72:44,78:19,46:NM_018557.2(LRP1B) c.1014-53386A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 141908438 . TTG G,T 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;PC=0.080;DM=LRP1B/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:25:G,T:4:3:0:1:3,1:101,31:11.16,2.98:3.80,2.98:7.35,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,60:99.0,72.0:1,0:0,0:94,18:44,133:37,0:NM_018557.2(LRP1B) c.1013+37551_1013+37552delAA,NM_018557.2(LRP1B) c.1013+37550_1013+37551delCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 141945852 rs1249433 C T 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.5325,T/0.4675;Gene=LRP1B/NM_018557.2/1;CC=c.1013+138G>A;VC=Intron;DM=LRP1B/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:20:0:0:20:629:72.44:72.44:0.00:1.00:1.00:0.00:60:48.4:0:0:53:96:39:NM_018557.2(LRP1B) c.1013+138G>A,NM_018557.2(LRP1B) c.1013+138G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 2 141945949 rs1249434 C T 154 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.002995,T/0.997;NP=3438;Gene=LRP1B/NM_018557.2/1;CC=c.1013+41G>A;VC=Intron;DM=LRP1B/FXa_inhibition GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:T:42:36:0:0:42:1342:154.19:112.15:42.03:1.00:1.00:1.00:60:41.1:0:0:34:112:22:NM_018557.2(LRP1B) c.1013+41G>A,NM_018557.2(LRP1B) c.1013+41G>A:1,1:0.998153,0.998153 2 141946153 . C . . NT END=141986751;NT GT ./. 2 141987010 . C . . NT END=142004794;NT GT ./. 2 142004924 . C . . NT END=142012090;NT GT ./. 2 142012036 rs9973397 T G 74 nt VT=SNV;PN=T;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.6907,G/0.3093;PC=0.020;Gene=LRP1B/NM_018557.2/1;CC=c.463+55A>C;VC=Intron;DM=LRP1B/EGF_CA;DM=LRP1B/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:48:40:0:0:25,23:771,713:74.48,0.00:55.22,0.00:19.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,14.3:0,0:0,0:54,41:97,108:36,22:NM_018557.2(LRP1B) c.463+55A>C,-:0.35,-:NOT_FOUND,- 2 142012211 . C . . NT END=142237964;NT GT ./. 2 142237673 rs4480937 C T 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.05192,T/0.9481;Gene=LRP1B/NM_018557.2/1;CC=c.343+292G>A;VC=Intron;DM=LRP1B/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:148:17.18:17.18:0.00:1.00:1.00:0.00:60:51.6:0:0:35:115:27:NM_018557.2(LRP1B) c.343+292G>A,NM_018557.2(LRP1B) c.343+292G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 142237728 rs60982703 TTGTGTGTGTGTGTG T 13 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=65;PC=0.001;Gene=LRP1B/NM_018557.2/1;CC=c.343+223_343+236delCACACACACACACA;VC=Intron;DM=LRP1B/Ldl_recept_a;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:5:6:0:6:5:151:13.41:11.56:1.85:0.99:0.99:0.89:60:49.0:1:0:60:73:26:NM_018557.2(LRP1B) c.343+223_343+236delCACACACACACACA,NM_018557.2(LRP1B) c.343+223_343+236delCACACACACACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 142237868 rs4264514 G A 88 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.631,A/0.369;PC=0.065;Gene=LRP1B/NM_018557.2/1;CC=c.343+97C>T;VC=Intron;DM=LRP1B/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:24:0:0:24:763:87.69:79.98:7.70:1.00:1.00:1.00:60:43.5:0:0:38:112:20:NM_018557.2(LRP1B) c.343+97C>T,NM_018557.2(LRP1B) c.343+97C>T:0.41,0.41:NOT_FOUND,NOT_FOUND 2 142238103 . C . . NT END=142567847;NT GT ./. 2 142238325 rs10184273 A T 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6284,T/0.3716;Gene=LRP1B/NM_018557.2/1;CC=c.206-223T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:377:43.42:0.00:43.42:1.00:0.00:1.00:60:62.5:0:0:90:60:37:NM_018557.2(LRP1B) c.206-223T>A,NM_018557.2(LRP1B) c.206-223T>A:0.41,0.41:NOT_FOUND,NOT_FOUND 2 142268480 rs2381188 C A,CCA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1048,CA/0.8952,CCA/.,CCCA/.;DB;DBA=NA;PAF=NA;NP=10;NP=225;NP=3;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:29:A,CCA:3:4:3:0:1,2:33,97:3.18,6.85:1.59,5.11:1.59,1.74:0.00,0.51:0.00,0.51:0.00,0.51:48,60:33.0,36.0:0,2:0,0:47,44:25,102:0,10:NM_018557.2(LRP1B) c.206-30378G>T,NM_018557.2(LRP1B) c.206-30379_206-30378insTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 142301983 rs62169786 T C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=LRP1B/NM_018557.2/1;CC=c.206-63881A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:3:0:0:3,1:100,33:10.45,0.00:5.28,0.00:5.18,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,36:58.3,0.0:0,0:0,0:39,25:42,15:14,0:NM_018557.2(LRP1B) c.206-63881A>G,-:0.25,-:NOT_FOUND,- 2 142567672 . GAAAGAAAGAA G 32 nt VT=DEL;SST=Single;DP=10;PC=0.128;Gene=LRP1B/NM_018557.2/1;CC=c.205+166_205+175delTTCTTTCTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:GAAAGAAAGAA,G:10:10:0:10:1,9:12,289:0.00,31.86:0.00,31.86:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:20.0,26.7:0,0:0,0:130,24:19,127:0,21:NM_018557.2(LRP1B) c.205+166_205+175delTTCTTTCTTT,NM_018557.2(LRP1B) c.205+166_205+175delTTCTTTCTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 142567737 rs4996425 G A 97 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4032,A/0.5968;PC=0.004;Gene=LRP1B/NM_018557.2/1;CC=c.205+111C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:25:0:0:26:850:97.40:93.52:3.88:1.00:1.00:1.00:70:42.2:1:0:34:116:24:NM_018557.2(LRP1B) c.205+111C>T,NM_018557.2(LRP1B) c.205+111C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 2 142567910 rs12990449 T C 358 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=T/0.7825,C/0.2175;PC=1.000;Gene=LRP1B/NM_018557.2/1;CC=c.143A>G;ProtCh=p.Q48R;VC=Missense;DM=LRP1B/Ldl_recept_a;DM=LRP1B/Ldl_recept_a;DM=LRP1B/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:102:69:0:0:101,1:3126,34:358.03,0.00:185.04,0.00:172.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,0.0:0,0:0,0:82,84:67,67:25,0:NM_018557.2(LRP1B) c.143A>G (p.Gln48Arg),NM_018557.2(LRP1B) c.143A>G (p.Gln48Arg):0.22,0.22:0.175227,0.175227 2 142567971 . C . . NT END=142888216;NT GT ./. 2 142884911 rs10928136 T C 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7438,C/0.2562;PC=0.003;Gene=LRP1B/NM_018557.2/1;CC=c.82+3306A>G;VC=Intron;DM=LRP1B/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:4:4:0:0:2,2:67,62:6.45,0.00:6.60,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:33.5,35.0:0,0:0,0:71,144:79,6:40,4:NM_018557.2(LRP1B) c.82+3306A>G,-:0.23,-:NOT_FOUND,- 2 142888299 . T . . NT END=143642936;NT GT ./. 2 142888376 rs1375610 G C 123 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5226,C/0.4774;PC=0.978;Gene=LRP1B/NM_018557.2/1;CC=c.-78C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:8:0:0:34:1063:122.51:19.23:103.27:1.00:1.00:1.00:60:37.3:0:0:113:36:21:NM_018557.2(LRP1B) c.-78C>G,NM_018557.2(LRP1B) c.-78C>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 143236617 rs6429969 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,C:5:4:0:0:1,4:7,142:0.51,15.72:0.51,7.86:0.00,7.86:0.00,0.96:0.00,1.00:0.00,0.99:60,60:18.0,44.2:0,0:0,0:67,62:84,78:0,7:chr2 g.143236616T>C (intergenic),chr2 g.143236616T>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 143643106 . G . . NT END=143676177;NT GT ./. 2 143676141 rs35434351 AT A 18 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=37;PC=0.001;Gene=KYNU/NM_001032998.1/0;CC=c.170-20delT;VC=Intron;Gene=KYNU/NM_001199241.1/0;CC=c.170-20delT;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.170-20delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:AT,T,I,A:42:38:6:9:28,1,6,7:889,10,192,289:0.00,-0.08,15.09,18.05:0.00,-0.20,14.19,8.92:0.00,0.12,0.90,9.13:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.93:60,60,60,60:50.3,10.0,34.2,24.7:0,0,0,2:0,0,0,0:63,53,28,34:74,97,120,116:25,0,24,20:-,NM_003937.2(KYNU) c.170-36delT:-,NOT_FOUND:-,NOT_FOUND 2 143676299 . G . . NT END=143685227;NT GT ./. 2 143685311 . G . . NT END=143712378;NT GT ./. 2 143712441 . G . . NT END=143713771;NT GT ./. 2 143713844 . G . . NT END=143715209;NT GT ./. 2 143715285 . G . . NT END=143718192;NT GT ./. 2 143718340 . G . . NT END=143742652;NT GT ./. 2 143742752 . G . . NT END=143743516;NT GT ./. 2 143743591 . G . . NT END=143746413;NT GT ./. 2 143746371 rs145638294 T C 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.9976,C/0.002396;NP=31;Gene=KYNU/NM_001032998.1/0;CC=c.903-43T>C;VC=Intron;Gene=KYNU/NM_001199241.1/0;CC=c.902+2781T>C;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.902+2781T>C;VC=Intron;DM=KYNU/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:14:0:0:9,7:303,203:29.85,0.00:21.12,0.00:8.73,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:41.2,66.3:0,0:0,0:53,29:97,122:8,7:NM_003937.2(KYNU) c.902+2781T>C,-:0.0027,-:0.005613,- 2 143746474 . G . . NT END=143746910;NT GT ./. 2 143746494 rs10496935 C G 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6743,G/0.3257;Gene=KYNU/NM_001032998.1/0;CC=c.*38+21C>G;VC=Intron;Gene=KYNU/NM_001199241.1/0;CC=c.902+2904C>G;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.902+2904C>G;VC=Intron;DM=KYNU/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:6:0:0:11,7:332,224:0.00,20.53:0.00,6.43:0.00,14.09:0.00,0.98:0.00,0.93:0.00,1.00:60,60:15.2,70.4:0,0:0,0:92,122:58,27:32,24:-,NM_003937.2(KYNU) c.902+2904C>G:-,0.3:-,0.253614 2 143746849 rs1050950 C A 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6348,A/0.3652;Gene=KYNU/NM_001032998.1/0;CC=c.*39-62C>A;VC=Intron;Gene=KYNU/NM_001199241.1/0;CC=c.902+3259C>A;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.902+3259C>A;VC=Intron;DM=KYNU/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:23:0:0:11,12:372,358:35.56,0.00:28.62,0.00:6.94,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:65.5,16.1:0,0:0,0:21,31:129,118:13,18:NM_003937.2(KYNU) c.902+3259C>A,-:0.33,-:NOT_FOUND,- 2 143746964 rs1050951 G A 95 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.8556,A/0.1444;PC=0.122;Gene=KYNU/NM_001032998.1/0;CC=c.*92G>A;VC=3UTR;Gene=KYNU/NM_001199241.1/0;CC=c.902+3374G>A;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.902+3374G>A;VC=Intron;DM=KYNU/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:44:0:0:29,25:975,809:95.15,0.00:63.89,0.00:31.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.8,4.7:0,0:0,0:69,48:82,102:36,27:NM_003937.2(KYNU) c.902+3374G>A,-:0.15,-:NOT_FOUND,- 2 143747107 . C . . NT END=143787195;NT GT ./. 2 143787161 rs6429999 C A 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.4109,A/0.5891,T/.;PC=0.001;Gene=KYNU/NM_001199241.1/0;CC=c.903-35C>A;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.903-35C>A;VC=Intron;DM=KYNU/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:21:0:0:8,19:254,638:22.09,0.00:16.57,0.00:5.52,0.00:0.98,0.00:1.00,0.00:0.99,0.00:60,60:44.0,14.1:0,0:0,0:64,87:84,64:44,30:NM_003937.2(KYNU) c.903-35C>A,-:0.55,-:0.596799,- 2 143787249 . G . . NT END=143790804;NT GT ./. 2 143787274 rs6430000 C T 77 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.02396,T/0.976;Gene=KYNU/NM_001199241.1/0;CC=c.955+26C>T;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.955+26C>T;VC=Intron;DM=KYNU/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:7:0:0:21:673:77.27:16.39:60.88:1.00:1.00:1.00:60:38.7:0:0:100:50:19:NM_003937.2(KYNU) c.955+26C>T,NM_003937.2(KYNU) c.955+26C>T:0.98,0.98:0.991541,0.991541 2 143790891 . G . . NT END=143797996;NT GT ./. 2 143791014 rs2304700 G T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8572,T/0.1428;Gene=KYNU/NM_001199241.1/0;CC=c.1041+124G>T;VC=Intron;Gene=KYNU/NM_003937.2/1;CC=c.1041+124G>T;VC=Intron;DM=KYNU/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,G,T:12:1:0:0:1,6,5:10,212,163:0.27,0.00,15.38:-0.02,0.00,-0.12:0.29,0.00,15.50:0.00,0.00,0.92:0.00,0.00,0.61:0.00,0.00,0.92:60,60,60:134.0,0.0,33.6:0,0,0:0,0,0:143,54,71:7,96,75:0,10,8:-,NM_003937.2(KYNU) c.1041+124G>T:-,0.15:-,NOT_FOUND 2 143798189 rs9013 A G 80 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.8243,G/0.1757;PC=0.043;Gene=KYNU/NM_001199241.1/0;CC=c.1234A>G;ProtCh=p.K412E;VC=Missense;Gene=KYNU/NM_003937.2/1;CC=c.1234A>G;ProtCh=p.K412E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:20:0:0:20,26:624,817:0.00,80.38:0.00,18.83:0.00,61.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,36.8:0,0:0,0:88,81:58,69:26,34:-,NM_003937.2(KYNU) c.1234A>G (p.Lys412Glu):-,0.18:-,0.16108 2 143798228 . G . . NT END=143799615;NT GT ./. 2 143799742 . C . . NT END=143913059;NT GT ./. 2 143799907 rs3816193 G A 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8241,A/0.1759 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:8:0:0:0:6,2:172,68:18.06,0.00:0.00,0.00:18.06,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.0,0.0:0,0:0,0:75,107:75,44:21,41:chr2 g.143799906G>A (intergenic),-:0.18,-:NOT_FOUND,- 2 143913004 rs2580857 T G 149 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.02097,G/0.979;Gene=ARHGAP15/NM_018460.3/1;CC=c.-14-42T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G:39:32:0:0:39:1307:149.29:114.15:35.14:1.00:1.00:1.00:60:38.6:0:0:39:111:21:NM_018460.3(ARHGAP15) c.-14-42T>G,NM_018460.3(ARHGAP15) c.-14-42T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 143913225 . G . . NT END=143959702;NT GT ./. 2 143959772 . G . . NT END=143973952;NT GT ./. 2 143959863 rs62171700 C T 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8145,T/0.1855;Gene=ARHGAP15/NM_018460.3/1;CC=c.234+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:C,T:9:1:0:0:4,5:133,166:0.00,16.30:0.00,1.81:0.00,14.49:0.00,0.96:0.00,0.70:0.00,0.96:60,60:3.5,59.2:0,0:0,0:94,113:56,37:35,31:-,NM_018460.3(ARHGAP15) c.234+92C>T:-,0.18:-,NOT_FOUND 2 143959892 rs34183792 C T 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8145,T/0.1855;Gene=ARHGAP15/NM_018460.3/1;CC=c.234+121C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:6:0:0:0:3,3:99,102:0.00,9.83:0.00,0.00:0.00,9.83:0.00,0.73:0.00,0.00:0.00,0.73:60,60:4.7,77.0:0,0:0,0:106,111:45,39:35,31:-,NM_018460.3(ARHGAP15) c.234+121C>T:-,0.18:-,NOT_FOUND 2 143973860 rs1451805 G A 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.1438,A/0.8562;PC=0.722;Gene=ARHGAP15/NM_018460.3/1;CC=c.235-93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:24:0:0:24:813:92.75:85.04:7.70:1.00:1.00:1.00:60:34.3:0:0:29:121:20:NM_018460.3(ARHGAP15) c.235-93G>A,NM_018460.3(ARHGAP15) c.235-93G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 2 143974015 . G . . NT END=143986149;NT GT ./. 2 143986002 rs12691671 T C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5905,C/0.4095;Gene=ARHGAP15/NM_018460.3/1;CC=c.297-148T>C;VC=Intron;DM=ARHGAP15/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:6:6:0:0:3,3:78,104:7.42,0.00:7.42,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:47.0,9.7:0,0:0,0:110,31:41,120:5,18:NM_018460.3(ARHGAP15) c.297-148T>C,-:0.39,-:NOT_FOUND,- 2 143986238 . G . . NT END=144008079;NT GT ./. 2 144007986 rs6430017 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8147,C/0.1853;PC=0.042;Gene=ARHGAP15/NM_018460.3/1;CC=c.385-94T>C;VC=Intron;DM=ARHGAP15/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:12:12:0:0:6,6:200,193:19.25,0.00:17.51,0.00:1.74,0.00:0.98,0.00:0.98,0.00:0.79,0.00:60,60:43.7,13.5:0,0:0,0:16,57:134,94:12,38:NM_018460.3(ARHGAP15) c.385-94T>C,-:0.19,-:NOT_FOUND,- 2 144008170 . G . . NT END=144192834;NT GT ./. 2 144103773 rs62170425 A T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7334,T/0.2666;PC=0.009;Gene=ARHGAP15/NM_018460.3/1;CC=c.475-89397A>T;VC=Intron;DM=ARHGAP15/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,T:4:4:0:0:1,3:13,93:0.00,9.77:0.00,6.86:0.00,2.91:0.00,0.85:0.00,0.85:0.00,0.99:60,60:22.0,56.0:0,0:0,0:84,76:67,74:0,6:-,NM_018460.3(ARHGAP15) c.475-89397A>T:-,0.25:-,NOT_FOUND 2 144171535 rs72617091 T TGTGGGCGCGCGC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.023;Gene=ARHGAP15/NM_018460.3/1;CC=c.475-21634_475-21633insTGGGCGCGCGCG;VC=Intron;DM=ARHGAP15/PH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TGTGGGCGCGCGC:4:2:3:0:1,3:31,100:0.00,10.45:0.00,5.53:0.00,4.93:0.00,0.85:0.00,0.95:0.00,0.99:60,70:10.0,7.0:0,0:0,0:147,86:4,64:0,3:-,NM_018460.3(ARHGAP15) c.475-21635_475-21634insGTGGGCGCGCGC:-,NOT_FOUND:-,NOT_FOUND 2 144192859 . G . . NT END=144193169;NT GT ./. 2 144193151 rs373835533 C CT 21 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=20;NP=375;NP=8;Gene=ARHGAP15/NM_018460.3/1;CC=c.475-5dupT;VC=Intron;DM=ARHGAP15/PH;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,T,CT,D:15:12:11:2:4,2,7,2:140,56,351,67:0.00,4.41,21.40,5.51:0.00,-0.14,9.53,4.10:0.00,4.55,11.87,1.40:0.00,0.00,0.98,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:60,60,70,60:6.0,91.5,65.6,0.0:0,0,4,0:0,0,0,0:53,85,32,49:97,65,116,95:27,2,18,0:-,NM_018460.3(ARHGAP15) c.475-19_475-18insT:-,NOT_FOUND:-,NOT_FOUND 2 144193269 . G . . NT END=144194481;NT GT ./. 2 144194612 . G . . NT END=144244941;NT GT ./. 2 144245065 . G . . NT END=144276834;NT GT ./. 2 144276934 . G . . NT END=144313976;NT GT ./. 2 144314055 . G . . NT END=144381701;NT GT ./. 2 144314247 rs6734367 T G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1639,G/0.8361;Gene=ARHGAP15/NM_018460.3/1;CC=c.1003+193T>G;VC=Intron;DM=ARHGAP15/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:G,T:4:0:0:0:3,1:104,30:10.85,0.00:0.00,0.00:10.85,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:34.7,0.0:0,0:0,0:111,146:40,5:25,0:NM_018460.3(ARHGAP15) c.1003+193T>G,-:0.81,-:NOT_FOUND,- 2 144381837 . G . . NT END=144460987;NT GT ./. 2 144461094 . G . . NT END=144525557;NT GT ./. 2 144522678 rs60894627 ATG A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=ATG/0.5381,A/0.4619;DB;DBA=NA;PAF=ATG/0.5381,A/0.4619;NP=93;Gene=ARHGAP15/NM_018460.3/1;CC=c.1245-2843_1245-2842delTG;VC=Intron;DM=ARHGAP15/RhoGAP;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:ATG,A:6:5:0:4:3,3:97,118:0.00,9.30:0.00,4.41:0.00,4.89:0.00,0.69:0.00,0.93:0.00,0.89:60,70:15.7,23.3:0,1:0,0:76,23:70,123:17,14:-,NM_018460.3(ARHGAP15) c.1245-2879_1245-2878delTG:-,NOT_FOUND:-,NOT_FOUND 2 144525742 . C . . NT END=144704617;NT GT ./. 2 144592428 rs59253557 A AAC 19 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6282,AAC/.,AACAC/0.3718;DB;DBA=NA;PAF=A/0.6282,AAC/.,AACAC/0.3718;NP=2;NP=36;NP=51;PC=0.009;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,AAC:8:4:6:0:2,6:60,181:0.00,19.01:0.00,6.75:0.00,12.25:0.00,1.00:0.00,0.85:0.00,1.00:60,70:3.5,35.8:0,0:0,0:21,47:130,79:8,23:-,chr2 g.144592428_144592429insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 144626600 rs142886777 A AACACAC 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6184,AACAC/.,AACACAC/0.3816,AACACACACAC/.;NP=21;NP=3;NP=57;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,AACACAC:4:4:3:0:1,3:24,101:0.00,10.56:0.00,6.85:0.00,3.70:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,0.0:0,0:0,0:2,40:149,91:0,1:-,chr2 g.144626600_144626601insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 144704703 . C . . NT END=144709547;NT GT ./. 2 144709641 . C . . NT END=144710338;NT GT ./. 2 144710411 . C . . NT END=144714760;NT GT ./. 2 144714907 . C . . NT END=144728218;NT GT ./. 2 144728330 . C . . NT END=144764747;NT GT ./. 2 144765103 . C . . NT END=144769233;NT GT ./. 2 144769207 . TA T 26 idl,rn VT=DEL;SST=Single;DP=51;NP=1;PC=0.170;Gene=GTDC1/NM_001284233.1/0;CC=c.522-4106delT;VC=Intron;Gene=GTDC1/NM_024659.4/0;CC=c.522-4106delT;VC=Intron;Gene=GTDC1/NM_001006636.3/0;CC=c.522-4106delT;VC=Intron;Gene=GTDC1/NM_001164629.3/0;CC=c.522-4106delT;VC=Intron;Gene=GTDC1/NM_001284234.1/0;CC=c.135-4106delT;VC=Intron;Gene=GTDC1/NM_001284238.1/1;CC=c.426-4106delT;VC=Intron;Gene=GTDC1/NM_001284235.1/0;CC=c.522-4106delT;VC=Intron;DM=GTDC1/DUF3524;DM=GTDC1/DUF3524;DM=GTDC1/DUF3524;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:42:39:6:17:3,25,4,10:37,731,167,517:1.14,0.00,7.53,25.54:-0.44,0.00,3.27,11.30:1.58,0.00,4.26,14.24:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,70:102.0,9.8,74.0,52.4:1,0,2,7:0,0,0,0:66,68,50,65:75,68,80,83:35,37,33,25:-,NM_001006636.3(GTDC1) c.522-4106delT:-,NOT_FOUND:-,NOT_FOUND 2 144769382 . C . . NT END=144899447;NT GT ./. 2 144899559 rs3731958 C A 30 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.3163,A/0.6837;PC=1.000;Gene=GTDC1/NM_001284233.1/0;CC=c.411G>T;ProtCh=p.M137I;VC=Missense;Gene=GTDC1/NM_024659.4/0;CC=c.411G>T;ProtCh=p.M137I;VC=Missense;Gene=GTDC1/NM_001006636.3/0;CC=c.411G>T;ProtCh=p.M137I;VC=Missense;Gene=GTDC1/NM_001164629.3/0;CC=c.411G>T;ProtCh=p.M137I;VC=Missense;Gene=GTDC1/NM_001284234.1/0;CC=c.24G>T;ProtCh=p.M8I;VC=Missense;Gene=GTDC1/NM_001284238.1/1;CC=c.315G>T;ProtCh=p.M105I;VC=Missense;Gene=GTDC1/NM_001284235.1/0;CC=c.411G>T;ProtCh=p.M137I;VC=Missense;DM=GTDC1/DUF3524;DM=GTDC1/DUF3524;DM=GTDC1/DUF3524 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:17:0:0:10,19:333,624:29.96,0.00:13.82,0.00:16.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,0.7:0,0:0,0:117,63:34,88:17,50:NM_001006636.3(GTDC1) c.411G>T (p.Met137Ile),-:0.68,-:0.570209,- 2 144899623 . C . . NT END=144903137;NT GT ./. 2 144903307 . C . . NT END=144966168;NT GT ./. 2 144966349 . T . . NT END=145147017;NT GT ./. 2 145147596 . C . . NT END=145153978;NT GT ./. 2 145147758 rs16855324 C T 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7786,T/0.2214;PC=0.020;Gene=ZEB2/NM_001171653.1/0;CC=c.2996-163G>A;VC=Intron;Gene=ZEB2/NM_014795.3/1;CC=c.3068-163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:229:26.24:0.00:26.24:1.00:0.00:1.00:60:44.4:0:0:74:77:45:NM_014795.3(ZEB2) c.3068-163G>A,NM_014795.3(ZEB2) c.3068-163G>A:0.2,0.2:NOT_FOUND,NOT_FOUND 2 145154160 . C . . NT END=145155867;NT GT ./. 2 145155731 rs10185359 T C 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.3235,C/0.6765;Gene=ZEB2/NM_001171653.1/0;CC=c.2814+137A>G;VC=Intron;Gene=ZEB2/NM_014795.3/1;CC=c.2886+137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:11,12:322,351:30.53,0.00:28.70,0.00:1.83,0.00:1.00,0.00:1.00,0.00:0.65,0.00:60,60:46.0,23.4:0,0:0,0:47,47:95,104:30,27:NM_014795.3(ZEB2) c.2886+137A>G,-:0.72,-:NOT_FOUND,- 2 145157838 . C . . NT END=145158765;NT GT ./. 2 145158875 . C . . NT END=145161482;NT GT ./. 2 145161698 . C . . NT END=145162402;NT GT ./. 2 145162592 . C . . NT END=145182362;NT GT ./. 2 145182435 . C . . NT END=145187335;NT GT ./. 2 145187594 . C . . NT END=145268951;NT GT ./. 2 145246237 . AGT A,AGTGTGT 11 idl,nt VT=INS;SST=Single;DP=6;NP=17;PC=0.981 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:39:T,AGTGTGT,A:6:6:3:2:1,3,2:25,100,61:2.20,10.53,6.10:2.20,6.95,3.05:0.00,3.58,3.05:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.51,0.00:60,60,60:44.0,0.0,22.0:0,0,0:0,0,0:2,95,63:149,56,71:0,2,15:NM_014795.3(ZEB2) c.73+28606_73+28607delAC,NM_014795.3(ZEB2) c.73+28606AC[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 145271365 . C . . NT END=145274844;NT GT ./. 2 145274918 . T . . NT END=145780714;NT GT ./. 2 145564087 rs74471155 G GTGTA 13 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=TEX41/NR_033870.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:G,GTGTA:8:6:4:0:4,4:140,132:0.00,12.70:0.00,11.72:0.00,0.98:0.00,0.87:0.00,0.73:0.00,0.51:60,70:38.8,3.2:0,0:0,0:72,40:43,110:33,19:-,NR_033870.2(DKFZp686O1327) n.325+38240_325+38241insTGTA:-,NOT_FOUND:-,NOT_FOUND 2 145605156 rs7564932 A G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8327,G/0.1673;Gene=TEX41/NR_033870.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G:4:1:0:0:2,2:44,70:0.00,6.75:0.00,-0.30:0.00,7.05:0.00,0.51:0.00,0.67:0.00,0.89:60,70:5.0,35.0:0,0:0,0:105,76:44,75:42,29:-,NR_033870.2(DKFZp686O1327) n.326-56077A>G:-,0.16:-,NOT_FOUND 2 145623983 rs70985875 T TCA 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4135,TCA/0.5865;DB;DBA=NA;PAF=T/0.4135,TCA/0.5865,TCACA/.,TCACACA/.;NP=145;NP=24;NP=3;Gene=TEX41/NR_033870.2/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:T,TCA,D:4:2:2:1:1,2,1:34,65,26:0.00,6.55,2.35:0.00,1.64,1.24:0.00,4.91,1.11:0.00,0.51,0.00:0.00,0.79,0.00:0.00,0.51,0.00:60,60,60:0.0,7.0,35.0:0,0,0:0,0,0:108,55,66:36,53,84:0,28,0:-,NR_033870.2(DKFZp686O1327) n.326-37250_326-37249insCA:-,NOT_FOUND:-,NOT_FOUND 2 145780841 . G . . NT END=145929564;NT GT ./. 2 145797389 rs13389190 A G 13 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7216,G/0.2784;Gene=TEX41/NR_033870.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:115:13.41:11.57:1.84:1.00:1.00:1.00:60:32.0:0:0:27:121:15:NR_033870.2(DKFZp686O1327) n.464-30998A>G,NR_033870.2(DKFZp686O1327) n.464-30998A>G:0.28,0.28:NOT_FOUND,NOT_FOUND 2 145929428 rs274840 C T 76 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.07208,T/0.9279 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:21:0:0:21:660:76.01:70.60:5.42:1.00:1.00:1.00:60:45.7:0:0:72:77:33:XR_109901.1(LOC100505498) n.38-137C>T,XR_109901.1(LOC100505498) n.38-137C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 145929699 . G . . NT END=145939770;NT GT ./. 2 145939811 . a . . NT END=148602721;NT GT ./. 2 146395511 rs58106280 A ATGTG 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=48;NP=6;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,ATGTG,D:7:4:4:1:2,4,1:68,123,33:0.00,12.50,2.80:0.00,3.00,1.43:0.00,9.50,1.37:0.00,0.90,0.00:0.00,0.97,0.00:0.00,0.90,0.00:60,60,60:17.0,11.2,5.0:0,0,0:0,0,0:91,48,25:33,87,106:16,5,0:-,chr2 g.146395511_146395512insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 146452863 rs58637294 ATGTG A 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=ATGTG/0.224,A/0.776;DB;DBA=NA;PAF=ATGTG/0.224,A/0.776;NP=418;PC=0.022;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:5:0:5:4:154:14.42:7.66:6.76:0.96:0.96:1.00:60:19.0:1:0:60:90:37:chr2 g.146452864_146452867delTGTG (intergenic),chr2 g.146452864_146452867delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 146583764 rs372799166 TTAAAA T 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TTAAAA/0.8277,T/0.1723;DB;DBA=NA;PAF=TTAAAA/0.8277,T/0.1723;NP=174;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:TTAAAA,T:4:4:0:2:2,2:49,67:0.00,6.45:0.00,6.60:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,60:6.0,0.0:0,0:0,0:56,37:94,114:36,14:-,chr2 g.146583765_146583769delTAAAA (intergenic):-,0.16:-,NOT_FOUND 2 146584312 rs6735536 G A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6236,A/0.3764;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,G:11:9:0:0:6,5:189,167:18.47,0.00:16.01,0.00:2.46,0.00:0.98,0.00:1.00,0.00:0.98,0.00:60,60:40.0,7.8:0,0:0,0:52,41:97,110:45,38:chr2 g.146584311G>A (intergenic),-:0.36,-:NOT_FOUND,- 2 146769829 rs71393775 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.008586,C/0.9914;DB;DBA=NA;PAF=NA;NP=98 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:143:16.21:4.03:12.18:1.00:1.00:1.00:60:103.5:0:0:67:82:2:chr2 g.146769828T>C (intergenic),chr2 g.146769828T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 146769898 rs6730849 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.008786,C/0.9912;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:154:17.78:0.00:17.78:1.00:0.00:1.00:60:76.2:0:0:125:14:11:chr2 g.146769897T>C (intergenic),chr2 g.146769897T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 147393212 . TTG T 6 rn VT=DEL;SST=Single;DP=4;NP=12;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TTG,T:4:2:0:2:2,2:68,66:0.00,6.35:0.00,1.64:0.00,4.71:0.00,0.51:0.00,0.79:0.00,0.51:60,60:24.0,0.0:0,0:0,0:32,12:102,138:11,5:-,chr2 g.147393213_147393214delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 147485434 rs370838964 T TACACAGAC 9 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9211,TAC/0.07887,TACACAC/.,TACACACACACACAC/.,TACACACACACACACAC/.;NP=1;NP=1;NP=1;NP=35;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TACACAGAC:3:7:7:0:3:175:8.72:7.25:1.47:0.69:0.69:0.89:60:39.0:4:0:50:100:30:chr2 g.147485434_147485435insACACAGAC (intergenic),chr2 g.147485434_147485435insACACAGAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 147746580 rs60418952 T TACAC 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=34;NP=6;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TACAC:5:4:5:0:1,4:33,157:0.00,13.23:0.00,10.30:0.00,2.92:0.00,0.93:0.00,0.99:0.00,0.91:60,60:44.0,21.5:0,1:0,0:96,31:31,120:0,21:-,chr2 g.147746580_147746581insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 147842528 rs778104 A G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.03175,G/0.9683;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:152:18.00:12.37:5.63:1.00:1.00:1.00:60:41.8:0:0:54:89:37:chr2 g.147842527A>G (intergenic),chr2 g.147842527A>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 2 147842560 rs201612822 GCATGCGCGCGCA G 6 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=86;PC=0.005;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:GCATGCGCGCGCA,G:4:4:0:3:2,2:66,95:0.00,6.41:0.00,6.45:0.00,-0.03:0.00,0.46:0.00,0.87:0.00,0.87:60,60:33.5,49.5:0,1:0,0:65,32:85,47:16,9:-,chr2 g.147842561_147842572delCATGCGCGCGCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 148602544 . CT C 9 rn VT=DEL;SST=Single;DP=10;PC=0.001;Gene=ACVR2A/NM_001278579.1/1;CC=c.-79-87delT;VC=Intron;Gene=ACVR2A/NM_001278580.1/0;CC=c.-207+281delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:CT,T,I,C:10:10:2:3:4,1,2,3:132,11,63,94:0.00,0.46,5.47,8.64:0.00,0.46,5.47,8.64:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.00:60,60,60,60:17.0,68.0,18.0,4.0:0,0,0,0:0,0,0,0:94,149,95,109:51,2,41,42:17,0,28,6:-,NM_001616.3(ACVR2A) c.-152-u25delT:-,NOT_FOUND:-,NOT_FOUND 2 148602777 . G . . NT END=148653869;NT GT ./. 2 148602917 . GC G 13 idl,rn VT=DEL;SST=Single;DP=11;NP=4;PC=0.079;Gene=ACVR2A/NM_001278579.1/1;CC=c.55+153delC;VC=Intron;Gene=ACVR2A/NM_001278580.1/0;CC=c.-207+654delC;VC=Intron;Gene=ACVR2A/NM_001616.4/0;CC=c.55+153delC;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:GC,G:7:1:0:11:2,5:45,257:0.00,13.35:0.00,1.62:0.00,11.73:0.00,0.93:0.00,0.64:0.00,0.93:60,60:93.0,6.2:0,4:0,0:129,78:9,65:6,20:-,NM_001616.3(ACVR2A) c.55+142delC:-,NOT_FOUND:-,NOT_FOUND 2 148654078 . G . . NT END=148657026;NT GT ./. 2 148657137 . G . . NT END=148657312;NT GT ./. 2 148657468 . G . . NT END=148672759;NT GT ./. 2 148657589 rs2288190 A G 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.524,G/0.476;PC=0.470;Gene=ACVR2A/NM_001278579.1/1;CC=c.528+122A>G;VC=Intron;Gene=ACVR2A/NM_001278580.1/0;CC=c.204+122A>G;VC=Intron;Gene=ACVR2A/NM_001616.4/0;CC=c.528+122A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:498:57.38:0.00:57.38:1.00:0.00:1.00:60:42.2:0:0:99:52:28:NM_001616.3(ACVR2A) c.528+122A>G,NM_001616.3(ACVR2A) c.528+122A>G:0.45,0.45:NOT_FOUND,NOT_FOUND 2 148672904 . G . . NT END=148674851;NT GT ./. 2 148674996 . G . . NT END=148676015;NT GT ./. 2 148675779 rs4972315 G A 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.03794,A/0.9621;Gene=ACVR2A/NM_001278579.1/1;CC=c.817-237G>A;VC=Intron;Gene=ACVR2A/NM_001278580.1/0;CC=c.493-237G>A;VC=Intron;Gene=ACVR2A/NM_001616.4/0;CC=c.817-237G>A;VC=Intron;DM=ACVR2A/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:60:35.4:0:0:32:119:15:NM_001616.3(ACVR2A) c.817-237G>A,NM_001616.3(ACVR2A) c.817-237G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 148676162 . G . . NT END=148677798;NT GT ./. 2 148677914 . G . . NT END=148680541;NT GT ./. 2 148680681 . G . . NT END=148683599;NT GT ./. 2 148680845 rs10180655 G C 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6082,C/0.3918;PC=0.001;Gene=ACVR2A/NM_001278579.1/1;CC=c.1216+165G>C;VC=Intron;Gene=ACVR2A/NM_001278580.1/0;CC=c.892+165G>C;VC=Intron;Gene=ACVR2A/NM_001616.4/0;CC=c.1216+165G>C;VC=Intron;DM=ACVR2A/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:333:38.53:0.00:38.53:1.00:0.00:1.00:60:76.5:0:0:104:30:26:NM_001616.3(ACVR2A) c.1216+165G>C,NM_001616.3(ACVR2A) c.1216+165G>C:0.35,0.35:NOT_FOUND,NOT_FOUND 2 148683731 . G . . NT END=148684648;NT GT ./. 2 148683919 rs12620026 A T 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.105,T/0.895;Gene=ACVR2A/NM_001278579.1/1;CC=c.1347+189A>T;VC=Intron;Gene=ACVR2A/NM_001278580.1/0;CC=c.1023+189A>T;VC=Intron;Gene=ACVR2A/NM_001616.4/0;CC=c.1347+189A>T;VC=Intron;DM=ACVR2A/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:361:41.35:0.00:41.35:1.00:0.00:1.00:60:37.6:0:0:119:32:20:NM_001616.3(ACVR2A) c.1347+189A>T,NM_001616.3(ACVR2A) c.1347+189A>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 148684844 . T . . NT END=148693078;NT GT ./. 2 148693268 . C . . NT END=148695714;NT GT ./. 2 148695783 . C . . NT END=148695866;NT GT ./. 2 148695963 . C . . NT END=148696708;NT GT ./. 2 148696818 . C . . NT END=148701004;NT GT ./. 2 148701092 . C . . NT END=148705619;NT GT ./. 2 148701099 rs66919703 GA G 17 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=58;PC=0.001;Gene=ORC4/NM_001190882.2/0;CC=c.541-9delT;VC=Intron;Gene=ORC4/NM_001190879.2/0;CC=c.763-9delT;VC=Intron;Gene=ORC4/NM_002552.4/0;CC=c.763-9delT;VC=Intron;Gene=ORC4/NM_001190881.2/0;CC=c.511-9delT;VC=Intron;Gene=ORC4/NM_181741.3/0;CC=c.763-9delT;VC=Intron;Gene=ORC4/NM_181742.3/1;CC=c.763-9delT;VC=Intron;DM=ORC4/ORC4_C;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,GA,I,G:37:23:2:10:3,25,2,7:50,711,66,303:2.56,0.00,4.40,17.36:-0.44,0.00,3.43,2.44:3.00,0.00,0.97,14.93:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.98:60,60,60,60:45.0,36.9,0.0,36.3:1,0,0,3:0,0,0,0:47,111,78,95:79,36,42,56:16,22,32,29:-,NM_181742.3(ORC4) c.763-9delT:-,NOT_FOUND:-,NOT_FOUND 2 148705794 . C . . NT END=148709941;NT GT ./. 2 148710094 . C . . NT END=148712915;NT GT ./. 2 148712965 . C . . NT END=148715866;NT GT ./. 2 148715953 . C . . NT END=148716359;NT GT ./. 2 148716436 . C . . NT END=148717810;NT GT ./. 2 148717958 . C . . NT END=148730307;NT GT ./. 2 148730399 . C . . NT END=148731016;NT GT ./. 2 148731094 . C . . NT END=148733470;NT GT ./. 2 148731252 rs1378081 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.005791,C/0.9942;NP=375;Gene=ORC4/NM_001190882.2/0;CC=c.-165-159A>G;VC=Intron;Gene=ORC4/NM_001190879.2/0;CC=c.58-159A>G;VC=Intron;Gene=ORC4/NM_002552.4/0;CC=c.58-159A>G;VC=Intron;Gene=ORC4/NM_001190881.2/0;CC=c.-27-14817A>G;VC=Intron;Gene=ORC4/NM_181741.3/0;CC=c.58-159A>G;VC=Intron;Gene=ORC4/NM_181742.3/1;CC=c.58-159A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:192:22.51:0.00:22.51:1.00:0.00:1.00:60:49.6:0:0:90:61:18:NM_181742.3(ORC4) c.58-159A>G,NM_181742.3(ORC4) c.58-159A>G:1,1:NOT_FOUND,NOT_FOUND 2 148733528 . T . . NT END=149216327;NT GT ./. 2 149087684 rs59452871 A T 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=MBD5/NM_018328.4/1;CC=c.-679-12099A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,T:7:5:0:0:3,4:102,120:0.00,11.82:0.00,6.77:0.00,5.05:0.00,0.90:0.00,0.98:0.00,0.97:60,67:51.0,45.0:0,0:0,0:55,51:70,73:11,14:-,NM_018328.4(MBD5) c.-679-12099A>T:-,0.06:-,NOT_FOUND 2 149087763 . T TC 10 nt VT=INS;SST=Single;DP=5;NP=318;PC=0.001;Gene=MBD5/NM_018328.4/1;CC=c.-679-12020_-679-12019insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TC:5:3:3:0:2,3:64,102:0.00,10.17:0.00,5.33:0.00,4.84:0.00,0.78:0.00,0.94:0.00,0.97:60,67:29.0,28.3:0,0:0,0:146,119:-36,16:1,14:-,NM_018328.4(MBD5) c.-679-12020_-679-12019insC:-,NOT_FOUND:-,NOT_FOUND 2 149098406 rs375833545 T TACACAC 8 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=24;Gene=MBD5/NM_018328.4/1;CC=c.-679-1338_-679-1337insCACACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TACACAC:3:4:4:0:3:102:7.60:3.90:3.70:0.85:0.85:0.95:60:3.7:1:0:45:76:20:NM_018328.4(MBD5) c.-679-1377_-679-1376insACACAC,NM_018328.4(MBD5) c.-679-1377_-679-1376insACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 149204154 rs2197582 C T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3676,T/0.6324;Gene=MBD5/NM_018328.4/1;CC=c.-556-11618C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:136:15.51:9.69:5.82:1.00:1.00:1.00:60:43.2:0:0:75:64:30:NM_018328.4(MBD5) c.-556-11618C>T,NM_018328.4(MBD5) c.-556-11618C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 2 149204171 rs540504270 C G,CTATGTGTGTGTG 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8882,G/0.1118;NP=1;NP=2;NP=3;NP=3;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:C,G,CTATGTGTGTGTG:4:4:2:0:1,1,2:29,29,64:0.00,2.65,6.45:0.00,2.71,3.23:0.00,-0.06,3.23:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.89:60,60,60:34.0,63.0,33.0:0,0,0:0,0,0:148,100,67:2,30,62:0,0,28:NM_018328.4(MBD5) c.-556-11601C>G,NM_018328.4(MBD5) c.-556-11601_-556-11600insTATGTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 149216441 . G . . NT END=149220150;NT GT ./. 2 149220254 . G . . NT END=149221307;NT GT ./. 2 149221489 . G . . NT END=149225909;NT GT ./. 2 149228031 . G . . NT END=149240678;NT GT ./. 2 149240657 rs5835195 GT G 124 idl,rn VT=DEL;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=159;PC=0.001;Gene=MBD5/NM_018328.4/1;CC=c.2519-9delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:61:55:0:44:22,39:645,1312:0.00,123.58:0.00,82.84:0.00,40.74:0.00,1.00:0.00,1.00:0.00,1.00:60,70:24.1,11.1:0,3:0,0:96,47:47,93:49,23:-,NM_018328.4(MBD5) c.2519-21delT:-,NOT_FOUND:-,NOT_FOUND 2 149241705 . G . . NT END=149243310;NT GT ./. 2 149243260 rs2121344 G A 89 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.4004,A/0.5996;PC=0.515;Gene=MBD5/NM_018328.4/1;CC=c.2846-51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:20:0:0:24:778:89.24:67.28:21.96:1.00:1.00:1.00:60:46.8:0:0:47:104:26:NM_018328.4(MBD5) c.2846-51G>A,NM_018328.4(MBD5) c.2846-51G>A:0.61,0.61:0.56303,0.56303 2 149243520 . G . . NT END=149246954;NT GT ./. 2 149248164 . G . . NT END=149260004;NT GT ./. 2 149259869 rs115609480 A G 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9874,G/0.01258;Gene=MBD5/NM_018328.4/1;CC=c.4264-136A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:9,9:292,317:0.00,30.58:0.00,30.58:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,35.2:0,0:0,0:73,94:77,57:6,14:-,NM_018328.4(MBD5) c.4264-136A>G:-,0.02:-,NOT_FOUND 2 149260079 . G . . NT END=149267628;NT GT ./. 2 149267705 . G . . NT END=149270438;NT GT ./. 2 149270511 . C . . NT END=149402586;NT GT ./. 2 149402404 rs386355293 C CG 55 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=562;PC=1.000;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:CG:15:15:15:0:15:475:54.65:54.65:0.00:1.00:1.00:0.00:60:3.3:0:0:38:113:20:NM_015630.3(EPC2) c.-27-u156_-27-u155insG,NM_015630.3(EPC2) c.-27-u156_-27-u155insG:0.97,0.97:NOT_FOUND,NOT_FOUND 2 149402740 . G . . NT END=149447782;NT GT ./. 2 149447943 . G . . NT END=149501190;NT GT ./. 2 149501337 . G . . NT END=149511495;NT GT ./. 2 149511703 . G . . NT END=149519350;NT GT ./. 2 149519500 . G . . NT END=149520238;NT GT ./. 2 149520214 rs10193313 C A 96 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.4752,A/0.5248;Gene=EPC2/NM_015630.3/1;CC=c.816-25C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:24:0:0:26:841:96.50:76.02:20.47:1.00:1.00:1.00:60:36.3:0:0:67:77:26:NM_015630.3(EPC2) c.816-25C>A,NM_015630.3(EPC2) c.816-25C>A:0.58,0.58:0.69238,0.69238 2 149520372 . G . . NT END=149522523;NT GT ./. 2 149522716 . G . . NT END=149526719;NT GT ./. 2 149526810 . G . . NT END=149528360;NT GT ./. 2 149528507 . G . . NT END=149528612;NT GT ./. 2 149528957 . G . . NT END=149539212;NT GT ./. 2 149529083 rs4972266 T C 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.04573,C/0.9543;Gene=EPC2/NM_015630.3/1;CC=c.1720+127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:0:0:0:13:385:44.66:0.00:44.66:1.00:0.00:1.00:60:39.1:0:0:87:62:42:NM_015630.3(EPC2) c.1720+127T>C,NM_015630.3(EPC2) c.1720+127T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 149539060 rs2289996 T G 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4952,G/0.5048;PC=0.394;Gene=EPC2/NM_015630.3/1;CC=c.1721-153T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:17:0:0:17:590:67.11:67.11:0.00:1.00:1.00:0.00:60:42.8:0:0:53:98:37:NM_015630.3(EPC2) c.1721-153T>G,NM_015630.3(EPC2) c.1721-153T>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 149539350 . G . . NT END=149541165;NT GT ./. 2 149541326 . G . . NT END=149542236;NT GT ./. 2 149542571 . G . . NT END=149543873;NT GT ./. 2 149543947 . C . . NT END=149633186;NT GT ./. 2 149633313 . G . . NT END=149679705;NT GT ./. 2 149679797 . G . . NT END=149686849;NT GT ./. 2 149679958 rs4346318 A T 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.249,T/0.751;PC=0.088;Gene=KIF5C/NM_004522.2/1;CC=c.217+162A>T;VC=Intron;DM=KIF5C/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:393:45.02:0.00:45.02:1.00:0.00:1.00:60:49.1:0:0:118:32:23:NM_004522.2(KIF5C) c.217+162A>T,NM_004522.2(KIF5C) c.217+162A>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 149686925 . T . . NT END=149987462;NT GT ./. 2 149881029 . AGTGTGT A 7 rn VT=DEL;SST=Single;DP=5;NP=3;PC=0.009;Gene=KIF5C/NM_004522.2/1;CC=c.*1486_*1491delGTGTGT;VC=3UTR;Gene=KIF5C/NR_111932.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AGTGTGT,C,A:4:3:0:3:1,1,2:35,7,102:0.00,0.41,6.84:0.00,0.51,1.74:0.00,-0.10,5.10:0.00,0.00,0.46:0.00,0.00,0.80:0.00,0.00,0.80:60,60,60:0.0,25.0,15.0:0,0,1:0,0,0:123,125,47:28,26,96:0,0,7:-,NM_004522.2(KIF5C) c.*1446GT[20]:-,NOT_FOUND:-,NOT_FOUND 2 149987468 . G . . NT END=150010560;NT GT ./. 2 150004269 rs417977 G C 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3355,C/0.6645;PC=0.055;Gene=LYPD6B/NM_001317003/0;CC=c.5+16802G>C;VC=Intron;Gene=LYPD6B/NM_001317005/0;CC=c.5+16802G>C;VC=Intron;Gene=LYPD6B/NM_001317006/0;CC=c.-37-57498G>C;VC=Intron;Gene=LYPD6B/NM_177964.3/1;CC=c.6-13009G>C;VC=Intron;Gene=LYPD6B/NM_001317004/0;CC=c.5+16802G>C;VC=Intron;Gene=LYPD6B/NM_001317002/0;CC=c.6-13009G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:105:12.38:12.38:0.00:1.00:1.00:0.00:60:89.5:0:0:48:103:29:NM_177964.3(LYPD6B) c.6-13009G>C,NM_177964.3(LYPD6B) c.6-13009G>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 150004317 rs488501 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2578,C/0.7422;Gene=LYPD6B/NM_001317003/0;CC=c.5+16850T>C;VC=Intron;Gene=LYPD6B/NM_001317005/0;CC=c.5+16850T>C;VC=Intron;Gene=LYPD6B/NM_001317006/0;CC=c.-37-57450T>C;VC=Intron;Gene=LYPD6B/NM_177964.3/1;CC=c.6-12961T>C;VC=Intron;Gene=LYPD6B/NM_001317004/0;CC=c.5+16850T>C;VC=Intron;Gene=LYPD6B/NM_001317002/0;CC=c.6-12961T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:130:14.91:9.39:5.52:1.00:1.00:1.00:60:54.2:0:0:43:107:18:NM_177964.3(LYPD6B) c.6-12961T>C,NM_177964.3(LYPD6B) c.6-12961T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 150010579 . G . . NT END=150017277;NT GT ./. 2 150010683 rs76406582 G A 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9988,A/0.001198;NP=4;PC=0.129;Gene=LYPD6B/NM_001317003/0;CC=c.5+23216G>A;VC=Intron;Gene=LYPD6B/NM_001317005/0;CC=c.5+23216G>A;VC=Intron;Gene=LYPD6B/NM_001317006/0;CC=c.-37-51084G>A;VC=Intron;Gene=LYPD6B/NM_177964.3/1;CC=c.6-6595G>A;VC=Intron;Gene=LYPD6B/NM_001317004/0;CC=c.5+23216G>A;VC=Intron;Gene=LYPD6B/NM_001317002/0;CC=c.6-6595G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,G:10:0:0:0:4,6:117,210:10.68,0.00:0.00,0.00:10.68,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:62.2,3.5:0,0:0,0:77,88:73,62:30,27:NM_177964.3(LYPD6B) c.6-6595G>A,-:0.0018,-:NOT_FOUND,- 2 150016086 rs10930475 G A 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6366,A/0.3634;Gene=LYPD6B/NM_001317003/0;CC=c.5+28619G>A;VC=Intron;Gene=LYPD6B/NM_001317005/0;CC=c.5+28619G>A;VC=Intron;Gene=LYPD6B/NM_001317006/0;CC=c.-37-45681G>A;VC=Intron;Gene=LYPD6B/NM_177964.3/1;CC=c.6-1192G>A;VC=Intron;Gene=LYPD6B/NM_001317004/0;CC=c.5+28619G>A;VC=Intron;Gene=LYPD6B/NM_001317002/0;CC=c.6-1192G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:4:1:0:0:2,2:68,70:6.55,0.00:1.84,0.00:4.71,0.00:0.51,0.00:0.67,0.00:0.51,0.00:60,60:34.0,0.0:0,0:0,0:85,62:62,88:4,10:NM_177964.3(LYPD6B) c.6-1192G>A,-:0.35,-:NOT_FOUND,- 2 150016103 rs60129822 CGT C,CGTGT 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=73;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:64:CGTGT,C:4:1:2:2:2,2:66,68:6.95,7.15:1.79,0.00:5.16,7.15:0.00,0.51:0.00,0.67:0.00,0.51:60,60:34.0,0.0:0,0:0,0:102,79:45,71:4,10:NM_177964.3(LYPD6B) c.6-1174_6-1173delGT,NM_177964.3(LYPD6B) c.6-1174_6-1173dupGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 150017350 . G . . NT END=150043939;NT GT ./. 2 150043783 rs6719954 A G 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1775,G/0.8225;PC=0.001;Gene=LYPD6B/NM_001317003/0;CC=c.6-17984A>G;VC=Intron;Gene=LYPD6B/NM_001317005/0;CC=c.6-17984A>G;VC=Intron;Gene=LYPD6B/NM_001317006/0;CC=c.-37-17984A>G;VC=Intron;Gene=LYPD6B/NM_177964.3/1;CC=c.78-17984A>G;VC=Intron;Gene=LYPD6B/NM_001317004/0;CC=c.6-17984A>G;VC=Intron;Gene=LYPD6B/NM_001317002/0;CC=c.78-17984A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:G:12:11:0:0:12:290:34.44:31.57:2.88:1.00:1.00:1.00:60:27.3:0:0:25:124:18:NM_177964.3(LYPD6B) c.78-17984A>G,NM_177964.3(LYPD6B) c.78-17984A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 150044094 . g . . NT END=150045171;NT GT ./. 2 150045246 . G . . NT END=150061766;NT GT ./. 2 150061919 . G . . NT END=150064827;NT GT ./. 2 150064927 . G . . NT END=150069505;NT GT ./. 2 150069637 . G . . NT END=150071059;NT GT ./. 2 150070892 rs6711281 T C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.7778,C/0.2222;PC=0.001;Gene=LYPD6B/NM_001317003/0;CC=c.388-168T>C;VC=Intron;Gene=LYPD6B/NM_001317005/0;CC=c.388-168T>C;VC=Intron;Gene=LYPD6B/NM_001317006/0;CC=c.346-168T>C;VC=Intron;Gene=LYPD6B/NM_177964.3/1;CC=c.460-168T>C;VC=Intron;Gene=LYPD6B/NM_001317004/0;CC=c.388-168T>C;VC=Intron;Gene=LYPD6B/NM_001317002/0;CC=c.460-168T>C;VC=Intron;DM=LYPD6B/UPAR_LY6_2;DM=LYPD6B/UPAR_LY6_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:C,T:14:14:0:0:9,5:301,143:30.45,0.00:30.45,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.4,2.4:0,0:0,0:49,17:102,134:20,11:NM_177964.3(LYPD6B) c.460-168T>C,-:0.25,-:NOT_FOUND,- 2 150071225 . T . . NT END=150294222;NT GT ./. 2 150177878 rs2216126 T C 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.399,C/0.601;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:24:0:0:12,16:417,497:39.12,0.00:20.52,0.00:18.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,11.5:0,0:0,0:42,30:105,114:13,21:chr2 g.150177877T>C (intergenic),-:0.64,-:NOT_FOUND,- 2 150294341 . G . . NT END=150305562;NT GT ./. 2 150305662 . G . . NT END=150325158;NT GT ./. 2 150305703 rs11681264 G A 46 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8083,A/0.1917;Gene=LYPD6/NM_001195685.1/0;CC=c.217+42G>A;VC=Intron;Gene=LYPD6/NM_194317.3/1;CC=c.217+42G>A;VC=Intron;DM=LYPD6/UPAR_LY6_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:5:0:0:14,13:470,440:45.56,0.00:1.21,0.00:44.35,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:39.6,18.2:0,0:0,0:97,90:53,61:34,34:NM_001195685.1(LYPD6) c.217+42G>A,-:0.19,-:0.19022,- 2 150325290 . G . . NT END=150327196;NT GT ./. 2 150325416 rs1196660 A G 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3516,G/0.6484;Gene=LYPD6/NM_001195685.1/0;CC=c.348+127A>G;VC=Intron;Gene=LYPD6/NM_194317.3/1;CC=c.348+127A>G;VC=Intron;DM=LYPD6/UPAR_LY6_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:10,13:304,422:0.00,41.60:0.00,0.00:0.00,41.60:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.9,40.4:0,0:0,0:91,116:59,35:25,28:-,NM_001195685.1(LYPD6) c.348+127A>G:-,0.68:-,NOT_FOUND 2 150325549 rs10931995 A C 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8638,C/0.1362;PC=0.146;Gene=LYPD6/NM_001195685.1/0;CC=c.348+260A>C;VC=Intron;Gene=LYPD6/NM_194317.3/1;CC=c.348+260A>C;VC=Intron;DM=LYPD6/UPAR_LY6_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,C:7:0:0:0:3,4:95,71:0.00,6.74:0.00,0.00:0.00,6.74:0.00,0.90:0.00,0.00:0.00,0.90:60,60:22.0,46.2:0,0:0,0:44,92:107,58:10,38:-,NM_001195685.1(LYPD6) c.348+260A>C:-,0.13:-,NOT_FOUND 2 150327365 . T . . NT END=150426487;NT GT ./. 2 150334913 rs67247003 TGC T,TGTGTGTGTGCGC 11 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TGC/0.2488,T/0.7512;DB;DBA=NA;PAF=NA;NP=7;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:32:C,TGTGTGTGTGCGC,T:6:5:2:3:1,2,3:33,62,100:3.00,6.20,10.53:1.50,3.10,7.05:1.50,3.10,3.48:0.00,0.00,0.73:0.00,0.00,0.96:0.00,0.00,0.51:60,60,60:33.0,6.0,0.0:0,0,0:0,0,0:52,90,120:23,60,31:0,11,10:chr2 g.150334914_150334915delGC (intergenic),chr2 g.150334914_150334915insTGTGTGTGCG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 150426399 rs6742604 A G 55 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.003994,G/0.996;NP=2808;PC=0.005;Gene=MMADHC/NM_015702.2/1;CC=c.*89T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G,T:17:17:0:0:16,1:479,8:54.97,0.27:53.00,0.27:1.98,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:39.5,40.0:0,0:0,0:35,88:115,62:9,0:NM_015702.2(MMADHC) c.*89T>C,NM_015702.2(MMADHC) c.*89T>C:1,1:NOT_FOUND,NOT_FOUND 2 150426683 . C . . NT END=150427598;NT GT ./. 2 150427516 rs4500908 C T 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.3782,T/0.6218;Gene=MMADHC/NM_015702.2/1;CC=c.696+83G>A;VC=Intron;DM=MMADHC/DUF2246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:15:15:0:0:6,1,8:207,12,244:0.00,0.41,24.04:0.00,0.41,24.04:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:3.5,82.0,36.0:0,0,0:0,0,0:94,130,67:56,20,84:31,0,26:-,NM_015702.2(MMADHC) c.696+83G>A:-,0.65:-,NOT_FOUND 2 150427686 . C . . NT END=150432224;NT GT ./. 2 150432356 . C . . NT END=150432950;NT GT ./. 2 150432377 rs12232959 C G 58 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.3784,G/0.6216;Gene=MMADHC/NM_015702.2/1;CC=c.479-22G>C;VC=Intron;DM=MMADHC/DUF2246;DM=MMADHC/DUF2246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:38:16:0:0:20,18:617,607:0.00,57.90:0.00,20.48:0.00,37.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,44.0:0,0:0,0:91,114:59,37:30,21:-,NM_015702.2(MMADHC) c.479-22G>C:-,0.65:-,0.622582 2 150432469 rs10932467 G T 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3686,T/0.6314;Gene=MMADHC/NM_015702.2/1;CC=c.479-114C>A;VC=Intron;DM=MMADHC/DUF2246;DM=MMADHC/DUF2246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:3:0:0:12,8:387,265:0.00,24.48:0.00,-0.44:0.00,24.93:0.00,0.99:0.00,0.80:0.00,1.00:60,60:6.8,51.4:0,0:0,0:101,84:49,67:27,22:-,NM_015702.2(MMADHC) c.479-114C>A:-,0.66:-,NOT_FOUND 2 150432976 rs11545261 C T 62 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.2404,T/0.7596;PC=0.893;Gene=MMADHC/NM_015702.2/1;CC=c.453G>A;ProtCh=p.Q151=;VC=Silent;DM=MMADHC/DUF2246;DM=MMADHC/DUF2246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:38:34:0:0:1,17,20:8,561,636:-0.05,0.00,62.03:-0.12,0.00,44.63:0.07,0.00,17.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.0,2.0,35.0:0,0,0:0,0,0:69,61,61:82,89,88:0,28,37:-,NM_015702.2(MMADHC) c.453G>A (p.(=)):-,0.78:-,0.77395 2 150433057 . C . . NT END=150435944;NT GT ./. 2 150433128 rs11680630 C G 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.3686,G/0.6314;Gene=MMADHC/NM_015702.2/1;CC=c.373-72G>C;VC=Intron;DM=MMADHC/DUF2246;DM=MMADHC/DUF2246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:5:0:0:9,10:308,333:0.00,32.36:0.00,3.11:0.00,29.25:0.00,1.00:0.00,0.97:0.00,1.00:60,60:2.6,43.0:0,0:0,0:68,98:83,53:29,24:-,NM_015702.2(MMADHC) c.373-72G>C:-,0.66:-,NOT_FOUND 2 150435889 rs36108609 C CAA 27 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.3516,CAA/0.6484;NP=2852;Gene=MMADHC/NM_015702.2/1;CC=c.372+54_372+55dupTT;VC=Intron;DM=MMADHC/DUF2246;DM=MMADHC/DUF2246;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAA:21:20:9:0:12,9:407,287:0.00,26.77:0.00,22.07:0.00,4.70:0.00,1.00:0.00,1.00:0.00,0.93:60,60:7.6,0.0:0,0:0,0:51,9:100,141:30,5:-,NM_015702.2(MMADHC) c.372+55_372+56insTT:-,0.67:-,NOT_FOUND 2 150436163 . C . . NT END=150438640;NT GT ./. 2 150438467 rs56118792 C CCTTTTT 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3516,CCTTTTT/0.6484;NP=54;Gene=MMADHC/NM_015702.2/1;CC=c.154+173_154+174insAAAAAG;VC=Intron;DM=MMADHC/DUF2246;DM=MMADHC/DUF2246;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,CCTTTTT:7:7:3:0:4,3:138,94:0.00,8.75:0.00,8.75:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:21.2,10.7:0,0:0,0:30,58:120,93:12,25:-,NM_015702.2(MMADHC) c.154+173_154+174insAAAAAG:-,0.67:-,NOT_FOUND 2 150438786 . C . . NT END=150443602;NT GT ./. 2 150443612 . C . . NT END=151326500;NT GT ./. 2 150443689 rs4667420 C G 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.3115,G/0.6885;PC=0.006;Gene=MMADHC/NM_015702.2/1;CC=c.-52-26G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:34:16:0:0:16,18:496,588:0.00,57.18:0.00,20.78:0.00,36.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,46.1:0,0:0,0:104,110:28,40:28,18:-,NM_015702.2(MMADHC) c.-52-26G>C:-,0.71:-,0.73675 2 150443813 rs4667419 C T 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3215,T/0.6785;Gene=MMADHC/NM_015702.2/1;CC=c.-52-150G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:9:0:0:0:4,5:128,145:0.00,14.17:0.00,0.00:0.00,14.17:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,38.0:0,0:0,0:135,115:16,36:8,8:-,NM_015702.2(MMADHC) c.-52-150G>A:-,0.7:-,NOT_FOUND 2 150577458 rs67284804 TAC T,TACACACACACAC 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=TAC/0.2065,T/0.7935;DB;DBA=NA;PAF=TAC/0.2065,T/0.7935;NP=261;PC=0.143 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:29:TACACACACACAC,T:4:4:3:1:3,1:62,34:7.00,3.28:3.70,1.64:3.30,1.64:0.85,0.00:0.85,0.00:0.99,0.00:60,60:37.7,0.0:0,0:0,0:51,104:97,46:3,0:chr2 g.150577459_150577460delAC (intergenic),chr2 g.150577459AC[6] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 150644490 rs11688772 C T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4814,T/0.5186;PC=0.002;Gene=LOC101929231/NR_110240.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:6:5:0:0:2,4:69,121:0.00,12.35:0.00,8.88:0.00,3.46:0.00,0.93:0.00,0.99:0.00,0.91:60,60:22.5,47.8:0,0:0,0:34,85:115,64:29,23:-,XR_108437.1(FLJ32955) n.1341+16206G>A:-,0.51:-,NOT_FOUND 2 150701715 rs70994598 ACCAGGGCC A 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ACCAGGGCC/0.2202,A/0.7798;DB;DBA=NA;PAF=ACCAGGGCC/0.2202,A/0.7798;NP=2;PC=0.004;Gene=LOC101929231/NR_110240.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:ACCAGGGCC,A:4:1:0:3:1,3:31,95:0.00,9.95:0.00,1.58:0.00,8.38:0.00,0.85:0.00,0.83:0.00,0.85:60,60:100.0,46.3:0,0:0,0:141,90:8,61:0,12:-,XR_108437.1(FLJ32955) n.1302+12242_1302+12249delGGCCCTGG:-,0.76:-,NOT_FOUND 2 150918093 rs374960352 T TTG 6 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=52;NP=8;PC=0.139;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:T,TTG:4:6:4:0:2,2:60,132:0.00,6.45:0.00,4.64:0.00,1.81:0.00,0.42:0.00,0.42:0.00,0.81:60,60:5.5,0.0:0,2:0,0:77,65:72,85:33,16:-,chr2 g.150918093_150918094insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 151326753 . C . . NT END=151328140;NT GT ./. 2 151326862 rs13000209 T C 120 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.4173,C/0.5827;Gene=RND3/NM_001254738.1/0;CC=c.484-110A>G;VC=Intron;Gene=RND3/NM_005168.4/1;CC=c.484-110A>G;VC=Intron;DM=RND3/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A,C:39:7:0:0:1,38:11,1027:0.27,119.92:0.00,16.94:0.27,102.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:146.0,43.0:0,0:0,0:107,123:42,27:0,24:NM_001254738.1(RND3) c.484-110A>G,NM_001254738.1(RND3) c.484-110A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 151326953 rs12692713 C A 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.01118,A/0.9888;NP=702;PC=0.897;Gene=RND3/NM_001254738.1/0;CC=c.484-201G>T;VC=Intron;Gene=RND3/NM_005168.4/1;CC=c.484-201G>T;VC=Intron;DM=RND3/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A,C:12:0:0:0:11,1:348,12:38.65,0.00:0.00,0.00:38.65,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:47.8,0.0:0,0:0,0:109,37:41,114:31,0:NM_001254738.1(RND3) c.484-201G>T,NM_001254738.1(RND3) c.484-201G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 151328276 . C . . NT END=151331388;NT GT ./. 2 151328284 rs397986259 GA G 131 idl,rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=811;PC=0.001;Gene=RND3/NM_001254738.1/0;CC=c.349-10delT;VC=Intron;Gene=RND3/NM_005168.4/1;CC=c.349-10delT;VC=Intron;DM=RND3/Ras;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,G:54:28:0:47:2,12,40:42,358,1326:2.42,0.00,130.54:-0.05,0.00,60.47:2.47,0.00,70.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:94.0,8.3,20.9:0,0,3:0,0,0:70,142,88:81,8,61:36,7,22:-,NM_001254738.1(RND3) c.349-10delT:-,NOT_FOUND:-,NOT_FOUND 2 151331499 . C . . NT END=151343207;NT GT ./. 2 151343296 . C . . NT END=151343781;NT GT ./. 2 151343663 rs144401566 C CT 37 rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.5847,CT/0.4153;NP=59;Gene=RND3/NM_001254738.1/0;CC=c.150+118_150+119insA;VC=Intron;Gene=RND3/NM_005168.4/1;CC=c.150+118_150+119insA;VC=Intron;DM=RND3/Ras;DM=RND3/Ras;DM=RND3/Ras;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:24:25:13:0:12,12:370,415:0.00,36.80:0.00,37.08:0.00,-0.28:0.00,1.00:0.00,1.00:0.00,0.77:60,60:53.5,53.8:0,1:0,0:34,29:111,122:31,18:-,NM_001254738.1(RND3) c.150+118_150+119insA:-,0.52:-,NOT_FOUND 2 151343674 rs72865945 C T 14 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=157;PC=0.048;Gene=RND3/NM_001254738.1/0;CC=c.150+108G>A;VC=Intron;Gene=RND3/NM_005168.4/1;CC=c.150+108G>A;VC=Intron;DM=RND3/Ras;DM=RND3/Ras;DM=RND3/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,C,G,T,D:25:25:0:1:1,17,1,5,1:17,529,11,164,31:0.54,0.00,0.07,13.65,1.88:0.54,0.00,0.08,10.57,1.89:-0.01,0.00,-0.01,3.08,-0.01:0.00,0.00,0.00,0.83,0.00:0.00,0.00,0.00,0.83,0.00:0.00,0.00,0.00,0.53,0.00:60,60,60,60,60:93.0,41.5,22.0,96.4,32.0:0,0,0,4,0:0,0,0,0,0:48,33,125,35,7:102,116,16,112,144:0,19,0,16,0:-,NM_001254738.1(RND3) c.150+108G>A:-,NOT_FOUND:-,NOT_FOUND 2 151343932 . T . . NT END=152107419;NT GT ./. 2 151343978 rs568179306 G A 14 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.018;Gene=RND3/NM_001254738.1/0;CC=c.-47C>T;VC=5UTR;Gene=RND3/NM_005168.4/1;CC=c.-38-9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:32:A,G,I,D:57:21:7:4:8,40,6,3:192,1259,198,99:13.70,0.00,11.77,6.56:-0.87,0.00,1.06,2.18:14.58,0.00,10.71,4.38:0.95,0.00,0.00,0.00:0.90,0.00,0.00,0.00:0.99,0.00,0.00,0.00:60,60,60,60:88.4,23.1,49.0,25.3:4,0,1,0:0,0,0,0:53,110,75,86:96,40,76,65:31,28,20,12:NM_001254738.1(RND3) c.-47C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 151343986 rs539846376 A AT 38 nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.987,T/0.01298;NP=10;NP=6;PC=0.941;Gene=RND3/NM_001254738.1/0;CC=c.-56_-55insA;VC=5UTR;Gene=RND3/NM_005168.4/1;CC=c.-38-18_-38-17insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:52:17:15:0:37,1,14:1211,31,472:0.00,1.55,37.76:0.00,-0.06,16.05:0.00,1.62,21.71:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,70:36.8,76.0,63.1:8,1,1:0,0,0:96,94,87:54,57,62:22,0,19:-,NM_001254738.1(RND3) c.-56_-55insA:-,NOT_FOUND:-,NOT_FOUND 2 151343988 rs56303053 A T 60 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.7037,T/0.2963;DB;DBA=NA;PAF=NA;PC=0.923;Gene=RND3/NM_001254738.1/0;CC=c.-57T>A;VC=5UTR;Gene=RND3/NM_005168.4/1;CC=c.-38-19T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,I,D:48:15:3:2:24,20,2,2:727,641,89,62:0.00,60.41,3.95,3.95:0.00,15.36,3.15,-0.09:0.00,45.05,0.80,4.04:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,70,60,60:40.4,58.2,51.0,0.0:3,15,1,0:0,0,0,0:90,95,114,60:58,55,31,90:19,16,6,41:-,NM_001254738.1(RND3) c.-57T>A:-,0.26:-,NOT_FOUND 2 151505472 . CACAGAGAG C 25 nt VT=DEL;SST=Single;DP=8;NP=18;PC=0.008;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:CACAGAGAG,C:8:4:0:7:1,7:35,230:0.00,25.03:0.00,7.59:0.00,17.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:67.0,14.0:0,0:0,0:129,91:12,44:0,21:-,chr2 g.151505473_151505480delACAGAGAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 151604209 rs71000417 TACACACACAC T 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=8;PC=0.004;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TACACACACAC,T:5:6:0:4:2,3:67,134:0.00,9.93:0.00,6.55:0.00,3.38:0.00,0.73:0.00,0.73:0.00,0.89:60,60:0.0,16.3:0,1:0,0:49,66:57,79:24,13:-,chr2 g.151604210_151604219delACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 151745411 rs71403128 C CCACACACA 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=17;PC=0.008;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:CCACACACA:2:3:4:0:2:129:7.15:5.36:1.79:0.51:0.89:0.79:60:6.0:2:0:58:92:15:chr2 g.151745411_151745412insCACACACA (intergenic),chr2 g.151745411_151745412insCACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 151755737 . TACAC C,T 11 nt VT=DEL;SST=Single;DP=5;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:C,TACAC,T:5:5:0:3:1,1,3:35,33,102:3.18,0.00,10.57:3.18,0.00,5.08:0.00,0.00,5.48:0.00,0.00,0.78:0.00,0.00,0.78:0.00,0.00,0.94:60,15,60:35.0,71.0,46.7:0,1,0:0,0,0:115,20,54:31,130,92:0,0,6:chr2 g.151755737_151755740delTACA (intergenic),chr2 g.151755738_151755741delACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 151755779 rs72862945 C T 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8552,T/0.1448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,102:0.00,10.65:0.00,5.33:0.00,5.33:0.00,0.85:0.00,0.85:0.00,0.85:60,60:35.0,44.3:0,0:0,0:18,92:133,54:0,6:-,chr2 g.151755778C>T (intergenic):-,0.15:-,NOT_FOUND 2 152016678 . TAC T,TACACACAC 11 idl;end,nt VT=INS;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:23:TACACACAC,T:4:4:4:1:3,1:131,29:10.56,2.68:3.30,2.68:7.26,0.00:0.78,0.00:0.97,0.00:0.94,0.00:60,60:19.3,8.0:1,0:0,0:45,4:75,109:15,0:chr2 g.152016679_152016680delAC (intergenic),chr2 g.152016679AC[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 152051749 rs71856375 GGT G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=143;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:GGT,G:4:4:0:3:1,3:30,92:0.00,9.65:0.00,6.30:0.00,3.35:0.00,0.85:0.00,0.85:0.00,0.95:60,70:70.0,24.0:0,0:0,0:123,40:28,108:0,26:-,chr2 g.152051750_152051751delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 152107214 rs289884 T C 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.02296,C/0.977;Gene=RBM43/NM_198557.2/1;CC=c.*206A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:220:25.34:25.34:0.00:1.00:1.00:0.00:60:31.4:0:0:45:105:42:NM_198557.2(RBM43) c.*206A>G,NM_198557.2(RBM43) c.*206A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 152108179 . C . . NT END=152109268;NT GT ./. 2 152108261 rs4665119 T G 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.2404,G/0.7596;Gene=RBM43/NM_198557.2/1;CC=c.316-83A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:8:0:0:26:831:95.49:21.30:74.18:1.00:1.00:1.00:60:33.6:0:0:109:42:27:NM_198557.2(RBM43) c.316-83A>C,NM_198557.2(RBM43) c.316-83A>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 152108405 rs4665120 G T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2404,T/0.7596;Gene=RBM43/NM_198557.2/1;CC=c.316-227C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:32.8:0:0:58:92:46:NM_198557.2(RBM43) c.316-227C>A,NM_198557.2(RBM43) c.316-227C>A:0.79,0.79:NOT_FOUND,NOT_FOUND 2 152109159 rs289885 C T 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.02296,T/0.977;PC=0.004;Gene=RBM43/NM_198557.2/1;CC=c.315+110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:338:38.57:38.57:0.00:1.00:1.00:0.00:60:51.9:0:0:60:89:22:NM_198557.2(RBM43) c.315+110G>A,NM_198557.2(RBM43) c.315+110G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 152109370 . C . . NT END=152112046;NT GT ./. 2 152111931 rs397771319 C CA 39 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.3462,CA/0.6538;DB;DBA=NA;PAF=C/0.3462,CA/0.6538;NP=971;Gene=RBM43/NM_198557.2/1;CC=c.214+115_214+116insT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,C,CA:17:23:18:0:1,4,12:10,137,541:0.25,0.00,38.95:0.25,0.00,38.95:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:166.0,1.5,19.6:1,1,6:0,0,0:30,97,25:121,52,121:0,46,11:-,NM_198557.2(RBM43) c.214+115_214+116insT:-,NOT_FOUND:-,NOT_FOUND 2 152112258 . C . . NT END=152118238;NT GT ./. 2 152118242 . G . . NT END=152127206;NT GT ./. 2 152127390 . C . . NT END=152128139;NT GT ./. 2 152128247 . C . . NT END=152131997;NT GT ./. 2 152132185 . C . . NT END=152132271;NT GT ./. 2 152132379 . C . . NT END=152135341;NT GT ./. 2 152135505 . C . . NT END=152138461;NT GT ./. 2 152138558 . C . . NT END=152139381;NT GT ./. 2 152139463 . G . . NT END=152214180;NT GT ./. 2 152214275 . G . . NT END=152220456;NT GT ./. 2 152214424 rs3821322 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4762,T/0.5238;Gene=LOC101929319/NR_110248.1/0;VC=NonCoding;Gene=TNFAIP6/NM_007115.3/1;CC=c.94+150C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:161:18.48:0.00:18.48:1.00:0.00:1.00:60:72.8:1:0:133:14:13:NM_007115.3(TNFAIP6) c.94+150C>T,NM_007115.3(TNFAIP6) c.94+150C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 2 152220595 . G . . NT END=152222569;NT GT ./. 2 152222732 . G . . NT END=152226533;NT GT ./. 2 152226763 . G . . NT END=152230062;NT GT ./. 2 152230104 . G . . NT END=152235877;NT GT ./. 2 152236045 rs71403164 TA T 106 idl,rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=TA/0.5094,T/0.4906;DB;DBA=NA;PAF=TA/0.5094,T/0.4906;NP=196;PC=1.000;Gene=TNFAIP6/NM_007115.3/1;CC=c.*12delA;ProtCh=p.G283D;VC=FrameShiftDel;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:44:24:0:38:11,33:294,1139:0.00,105.92:0.00,38.91:0.00,67.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.4,25.0:0,5:0,0:105,86:34,58:34,24:-,NM_007115.3(TNFAIP6) c.833_*12delAAAAAAAAAAAAAAinsAAAAAAAAAAAAA (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 152236048 . A . . NT END=152266937;NT GT ./. 2 152266731 rs2290367 T A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5591,A/0.4409;Gene=RIF1/NM_001177663.1/0;CC=c.-11+184T>A;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.-11+184T>A;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.-10-197T>A;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.-207T>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,T:10:10:0:0:3,7:102,210:8.98,0.00:8.98,0.00:0.00,0.00:0.62,0.00:0.62,0.00:0.00,0.00:60,60:50.0,10.9:0,0:0,0:63,16:88,135:31,10:NM_018151.4(RIF1) c.-11+184T>A,-:0.42,-:NOT_FOUND,- 2 152267042 . G . . NT END=152267773;NT GT ./. 2 152267072 rs4664045 T G 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.5685,A/.,G/0.4315;Gene=RIF1/NM_001177663.1/0;CC=c.104+31T>G;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.104+31T>G;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.104+31T>G;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.104+31T>G;VC=Intron;DM=RIF1/Rif1_N;DM=RIF1/Rif1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:46:19:0:0:20,26:592,838:55.02,0.00:14.41,0.00:40.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,20.8:0,0:0,0:101,101:49,47:30,22:NM_018151.4(RIF1) c.104+31T>G,-:0.41,-:0.402514,- 2 152267672 rs7585604 G A 73 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.07228,A/0.9277;Gene=RIF1/NM_001177663.1/0;CC=c.105-102G>A;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.105-102G>A;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.105-102G>A;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.105-102G>A;VC=Intron;DM=RIF1/Rif1_N;DM=RIF1/Rif1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:21:0:0:21:632:73.12:73.12:0.00:1.00:1.00:0.00:60:49.4:0:0:32:116:25:NM_018151.4(RIF1) c.105-102G>A,NM_018151.4(RIF1) c.105-102G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 152267721 rs66862523 AT A 54 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=AT/0.7244,A/0.2756;NP=810;Gene=RIF1/NM_001177663.1/0;CC=c.105-42delT;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.105-42delT;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.105-42delT;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.105-42delT;VC=Intron;DM=RIF1/Rif1_N;DM=RIF1/Rif1_N;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:40:40:0:20:22,18:675,637:0.00,54.12:0.00,45.19:0.00,8.93:0.00,1.00:0.00,1.00:0.00,0.99:60,60:38.6,19.2:0,2:0,0:52,33:97,117:29,18:-,NM_018151.4(RIF1) c.105-52delT:-,NOT_FOUND:-,NOT_FOUND 2 152267853 . G . . NT END=152271336;NT GT ./. 2 152267897 rs374684225 G GT 13 idl,rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=482;Gene=RIF1/NM_001177663.1/0;CC=c.183+56_183+57insT;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.183+56_183+57insT;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.183+56_183+57insT;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.183+56_183+57insT;VC=Intron;DM=RIF1/Rif1_N;DM=RIF1/Rif1_N;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,GT,D:29:13:7:2:22,5,2:740,229,66:0.00,13.14,4.54:0.00,2.37,1.11:0.00,10.77,3.42:0.00,0.80,0.00:0.00,0.84,0.00:0.00,0.96,0.00:60,60,60:1.6,5.0,0.0:0,2,0:0,0,0:121,87,131:26,64,19:14,29,2:-,NM_018151.4(RIF1) c.183+45_183+46insT:-,NOT_FOUND:-,NOT_FOUND 2 152271188 rs144193655 GTTTATT G 15 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GTTTATT/0.7991,G/0.2009;NP=237;PC=0.026;Gene=RIF1/NM_001177663.1/0;CC=c.184-133_184-128delATTTTT;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.184-133_184-128delATTTTT;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.184-133_184-128delATTTTT;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.184-133_184-128delATTTTT;VC=Intron;DM=RIF1/Rif1_N;DM=RIF1/Rif1_N;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:GTTTATT,G:16:16:0:6:10,6:312,165:0.00,14.76:0.00,14.76:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:17.1,42.2:0,0:0,0:20,40:130,96:16,13:-,NM_018151.4(RIF1) c.184-148_184-143delTTTATT:-,0.24:-,NOT_FOUND 2 152271434 . G . . NT END=152273074;NT GT ./. 2 152273203 . G . . NT END=152273320;NT GT ./. 2 152273416 . G . . NT END=152276703;NT GT ./. 2 152273503 rs6735771 G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3117,A/0.6883;PC=0.001;Gene=RIF1/NM_001177663.1/0;CC=c.503+88G>A;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.503+88G>A;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.503+88G>A;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.503+88G>A;VC=Intron;DM=RIF1/Rif1_N;DM=RIF1/Rif1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:A,G:14:1:0:0:3,11:90,342:7.27,0.00:-0.10,0.00:7.38,0.00:0.56,0.00:0.48,0.00:0.92,0.00:60,60:36.3,9.0:0,0:0,0:136,95:15,56:6,28:NM_018151.4(RIF1) c.503+88G>A,-:0.66,-:NOT_FOUND,- 2 152276894 . G . . NT END=152279463;NT GT ./. 2 152277149 rs12693029 A G 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.01318,G/0.9868;NP=114;PC=0.001;Gene=RIF1/NM_001177663.1/0;CC=c.693+256A>G;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.693+256A>G;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.693+256A>G;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.693+256A>G;VC=Intron;DM=RIF1/Rif1_N;DM=RIF1/Rif1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:212:24.06:0.00:24.06:1.00:0.00:1.00:60:36.8:0:0:113:37:17:NM_018151.4(RIF1) c.693+256A>G,NM_018151.4(RIF1) c.693+256A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 152279557 . G . . NT END=152285297;NT GT ./. 2 152285437 . G . . NT END=152289590;NT GT ./. 2 152289743 . G . . NT END=152291976;NT GT ./. 2 152289767 rs72860233 G A 55 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.8027,A/0.1973;Gene=RIF1/NM_001177663.1/0;CC=c.1077+25G>A;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.1077+25G>A;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.1077+25G>A;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.1077+25G>A;VC=Intron;DM=RIF1/Rif1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:18:0:0:19,27:591,939:54.62,0.00:14.75,0.00:39.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,5.0:0,0:0,0:113,98:38,51:33,23:NM_018151.4(RIF1) c.1077+25G>A,-:0.24,-:0.259111,- 2 152292095 . G . . NT END=152293340;NT GT ./. 2 152292169 rs397870279 GA G 22 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GA/0.6881,G/0.3119;DB;DBA=NA;PAF=GA/0.6881,G/0.3119;NP=1678;Gene=RIF1/NM_001177663.1/0;CC=c.1195+84delA;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.1195+84delA;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.1195+84delA;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.1195+84delA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:GA,G:9:0:0:7:2,7:63,210:0.00,22.27:0.00,0.00:0.00,22.27:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.0,31.3:0,0:0,0:54,100:95,50:33,16:-,NM_018151.4(RIF1) c.1195+76delA:-,NOT_FOUND:-,NOT_FOUND 2 152293320 . C CT 22 idl,rn VT=INS;SST=Single;DP=55;Gene=RIF1/NM_001177663.1/0;CC=c.1196-8dupT;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.1196-8dupT;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.1196-8dupT;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.1196-8dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:53:48:9:4:42,9,2:1332,284,112:0.00,22.36,3.80:0.00,14.41,2.81:0.00,7.95,0.99:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.89,0.00:60,60,60:28.4,30.0,94.5:0,0,2:0,0,0:46,66,38:104,85,99:33,24,31:-,NM_018151.4(RIF1) c.1196-21_1196-20insT:-,NOT_FOUND:-,NOT_FOUND 2 152293518 . G . . NT END=152293754;NT GT ./. 2 152293620 rs2444272 C T 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.3606,T/0.6394;Gene=RIF1/NM_001177663.1/0;CC=c.1372+103C>T;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.1372+103C>T;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.1372+103C>T;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.1372+103C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:10:0:0:14,18:461,578:0.00,56.86:0.00,21.63:0.00,35.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,34.7:0,0:0,0:96,100:54,50:33,42:-,NM_018151.4(RIF1) c.1372+103C>T:-,0.7:-,NOT_FOUND 2 152293866 . G . . NT END=152295197;NT GT ./. 2 152295261 . G . . NT END=152296540;NT GT ./. 2 152296642 . G . . NT END=152298418;NT GT ./. 2 152298506 . G . . NT END=152299772;NT GT ./. 2 152298562 rs138147981 T TTTTTATTTTA 19 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.3359,TTTTTA/.,TTTTTATTTTA/0.6641,TTTTTATTTTATTTTA/.;NP=1;NP=1;NP=29;Gene=RIF1/NM_001177663.1/0;CC=c.1734+95_1734+96insTATTTTATTT;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.1734+95_1734+96insTATTTTATTT;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.1734+95_1734+96insTATTTTATTT;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.1734+95_1734+96insTATTTTATTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:T,TTTTTATTTTA:37:14:8:0:30,7:960,264:0.00,18.65:0.00,3.95:0.00,14.70:0.00,0.94:0.00,0.89:0.00,0.99:60,70:4.9,0.0:0,1:0,0:132,74:18,75:10,8:-,NM_018151.4(RIF1) c.1734+57_1734+58insTTTTATTTTA:-,NOT_FOUND:-,NOT_FOUND 2 152299844 . G . . NT END=152300042;NT GT ./. 2 152300224 . G . . NT END=152301851;NT GT ./. 2 152301960 . G . . NT END=152302939;NT GT ./. 2 152303090 . G . . NT END=152308119;NT GT ./. 2 152303171 rs2432941 G A 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3427,A/0.6573;Gene=RIF1/NM_001177663.1/0;CC=c.2244+82G>A;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.2244+82G>A;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.2244+82G>A;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.2244+82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:3:0:0:12,14:367,455:34.59,0.00:4.88,0.00:29.71,0.00:1.00,0.00:0.86,0.00:1.00,0.00:60,60:39.8,6.1:0,0:0,0:104,106:46,44:22,28:NM_018151.4(RIF1) c.2244+82G>A,-:0.72,-:NOT_FOUND,- 2 152308220 . G . . NT END=152311408;NT GT ./. 2 152311570 rs2444263 G A 99 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.3606,A/0.6394;PC=0.011;Gene=RIF1/NM_001177663.1/0;CC=c.2506G>A;ProtCh=p.G836S;VC=Missense;Gene=RIF1/NM_018151.4/1;CC=c.2506G>A;ProtCh=p.G836S;VC=Missense;Gene=RIF1/NM_001177664.1/0;CC=c.2506G>A;ProtCh=p.G836S;VC=Missense;Gene=RIF1/NM_001177665.1/0;CC=c.2506G>A;ProtCh=p.G836S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:37:0:0:30,27:1021,861:99.28,0.00:41.79,0.00:57.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,1.6:0,0:0,0:76,58:73,93:31,25:NM_018151.4(RIF1) c.2506G>A (p.Gly836Ser),-:0.7,-:0.633938,- 2 152311674 . G . . NT END=152313091;NT GT ./. 2 152313135 . G . . NT END=152314274;NT GT ./. 2 152314478 . G . . NT END=152315324;NT GT ./. 2 152314547 rs397873023 C CA 61 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.3433,CA/0.6567;DB;DBA=NA;PAF=C/0.3433,CA/0.6567;NP=2540;Gene=RIF1/NM_001177663.1/0;CC=c.2855+73dupA;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.2855+73dupA;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.2855+73dupA;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.2855+73dupA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:32:3:20:0:12,20:367,605:0.00,60.87:0.00,6.79:0.00,54.07:0.00,1.00:0.00,0.95:0.00,1.00:60,60:15.8,2.3:1,0:0,0:97,96:53,54:21,21:-,NM_018151.4(RIF1) c.2855+70_2855+71insA:-,0.72:-,NOT_FOUND 2 152315425 . G . . NT END=152316513;NT GT ./. 2 152316634 . G . . NT END=152317651;NT GT ./. 2 152317531 rs2045025 T C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.6659,C/0.3341;Gene=RIF1/NM_001177663.1/0;CC=c.3076-121T>C;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.3076-121T>C;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.3076-121T>C;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.3076-121T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:C,T:17:16:0:0:5,12:170,384:14.91,0.00:15.06,0.00:-0.15,0.00:0.88,0.00:0.99,0.00:0.53,0.00:60,60:36.4,5.8:0,0:0,0:12,33:139,117:10,17:NM_018151.4(RIF1) c.3076-121T>C,-:0.37,-:NOT_FOUND,- 2 152317804 . G . . NT END=152318755;NT GT ./. 2 152317926 . C G 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;PC=0.031;Gene=RIF1/NM_001177663.1/0;CC=c.3227+123C>G;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.3227+123C>G;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.3227+123C>G;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.3227+123C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,G:17:0:0:0:14,3:452,105:0.00,8.49:0.00,0.00:0.00,8.49:0.00,0.53:0.00,0.00:0.00,0.53:60,60:9.6,141.3:0,0:0,0:63,101:87,41:50,3:-,NM_018151.4(RIF1) c.3227+123C>G:-,NOT_FOUND:-,NOT_FOUND 2 152317940 . C CT 8 nt VT=INS;SST=Single;DP=15;PC=0.002;Gene=RIF1/NM_001177663.1/0;CC=c.3227+138_3227+139insT;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.3227+138_3227+139insT;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.3227+138_3227+139insT;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.3227+138_3227+139insT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,CT:15:0:3:0:12,3:402,99:0.00,8.07:0.00,0.00:0.00,8.07:0.00,0.55:0.00,0.00:0.00,0.55:60,60:9.8,141.3:0,0:0,0:57,115:93,27:32,3:-,NM_018151.4(RIF1) c.3227+137_3227+138insT:-,NOT_FOUND:-,NOT_FOUND 2 152318837 . G . . NT END=152318925;NT GT ./. 2 152318981 . G . . NT END=152319397;NT GT ./. 2 152319162 rs398104844 A AGT 18 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5425,AGT/0.4397,AGTGT/.,AGTGTGT/0.01777;DB;DBA=NA;PAF=A/0.5425,AGT/0.4397;NP=1;NP=21;NP=506;Gene=RIF1/NM_001177663.1/0;CC=c.3363+202_3363+203insGT;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.3363+202_3363+203insGT;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.3363+202_3363+203insGT;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.3363+202_3363+203insGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C,AGT:16:6:6:0:9,1,6:265,12,196:0.00,0.32,18.08:0.00,0.49,5.70:0.00,-0.17,12.38:0.00,0.00,0.95:0.00,0.00,0.93:0.00,0.00,0.98:60,60,60:16.6,104.0,4.2:0,0,0:0,0,0:118,23,85:33,95,64:28,0,20:-,NM_018151.4(RIF1) c.3363+182_3363+183insGT:-,NOT_FOUND:-,NOT_FOUND 2 152320118 rs2123465 G A 105 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.36,A/0.64;Gene=RIF1/NM_001177663.1/0;CC=c.4084G>A;ProtCh=p.V1362M;VC=Missense;Gene=RIF1/NM_018151.4/1;CC=c.4084G>A;ProtCh=p.V1362M;VC=Missense;Gene=RIF1/NM_001177664.1/0;CC=c.4084G>A;ProtCh=p.V1362M;VC=Missense;Gene=RIF1/NM_001177665.1/0;CC=c.4084G>A;ProtCh=p.V1362M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:45:0:0:37,40:1107,1369:105.11,0.00:48.31,0.00:56.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,9.5:0,0:0,0:78,75:71,73:48,31:NM_018151.4(RIF1) c.4084G>A (p.Val1362Met),-:0.7,-:0.634189,- 2 152322095 rs2444257 A T 102 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.3405,T/0.6595;Gene=RIF1/NM_001177663.1/0;CC=c.6061A>T;ProtCh=p.N2021Y;VC=Missense;Gene=RIF1/NM_018151.4/1;CC=c.6061A>T;ProtCh=p.N2021Y;VC=Missense;Gene=RIF1/NM_001177664.1/0;CC=c.6061A>T;ProtCh=p.N2021Y;VC=Missense;Gene=RIF1/NM_001177665.1/0;CC=c.6061A>T;ProtCh=p.N2021Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:75:47:0:0:40,35:1271,1079:0.00,102.04:0.00,40.50:0.00,61.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,36.8:0,0:0,0:70,60:58,91:40,36:-,NM_018151.4(RIF1) c.6061A>T (p.Asn2021Tyr):-,0.72:-,0.683146 2 152322635 . G . . NT END=152324513;NT GT ./. 2 152324661 . G . . NT END=152324987;NT GT ./. 2 152324789 rs2444274 G C 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.3598,C/0.6402;Gene=RIF1/NM_001177663.1/0;CC=c.6747+129G>C;VC=Intron;Gene=RIF1/NM_018151.4/1;CC=c.6747+129G>C;VC=Intron;Gene=RIF1/NM_001177664.1/0;CC=c.6747+129G>C;VC=Intron;Gene=RIF1/NM_001177665.1/0;CC=c.6747+129G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:5:0:0:9,10:277,331:26.27,0.00:9.10,0.00:17.17,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:42.9,9.8:0,0:0,0:114,82:35,67:10,26:NM_018151.4(RIF1) c.6747+129G>C,-:0.7,-:NOT_FOUND,- 2 152325066 . G . . NT END=152325154;NT GT ./. 2 152325271 . G . . NT END=152326224;NT GT ./. 2 152326379 . G . . NT END=152330477;NT GT ./. 2 152330587 . G . . NT END=152331370;NT GT ./. 2 152331418 rs1065177 C G 55 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.3433,G/0.6567;Gene=RIF1/NM_001177663.1/0;CC=c.7174C>G;ProtCh=p.L2392V;VC=Missense;Gene=RIF1/NM_018151.4/1;CC=c.7252C>G;ProtCh=p.L2418V;VC=Missense;Gene=RIF1/NM_001177664.1/0;CC=c.7174C>G;ProtCh=p.L2392V;VC=Missense;Gene=RIF1/NM_001177665.1/0;CC=c.7174C>G;ProtCh=p.L2392V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:43:35:0:0:24,18,1:808,593,27:0.00,55.41,1.31:0.00,43.33,1.40:0.00,12.08,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:3.1,35.4,243.0:0,0,0:0,0,0:59,65,89:85,85,62:26,33,0:-,NM_018151.4(RIF1) c.7252C>G (p.Leu2418Val):-,0.72:-,0.68156 2 152331586 . T . . NT END=152342272;NT GT ./. 2 152342448 . C . . NT END=152346483;NT GT ./. 2 152346592 . C . . NT END=152346884;NT GT ./. 2 152346979 rs1061305 T C 155 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=in-clinvar;PAF=T/0.6657,C/0.3343;PC=0.776;Gene=NEB/NM_001164507.1/0;CC=c.25204A>G;ProtCh=p.I8402V;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.25204A>G;ProtCh=p.I8402V;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.25309A>G;ProtCh=p.I8437V;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.19600A>G;ProtCh=p.I6534V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:102:66:0:0:50,52:1623,1769:155.45,0.00:77.69,0.00:77.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,3.0:0,0:0,0:70,76:81,70:39,36:NM_001271208.1(NEB) c.25309A>G (p.Ile8437Val),-:0.37,-:0.418785,- 2 152347033 . C . . NT END=152348195;NT GT ./. 2 152348290 . C . . NT END=152348610;NT GT ./. 2 152348796 . C . . NT END=152348899;NT GT ./. 2 152348842 rs2288193 T A 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.7983,A/0.2017;Gene=NEB/NM_001164507.1/0;CC=c.24874-47A>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.24874-47A>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.24979-47A>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.19270-47A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:57:33:0:0:25,32:752,960:70.14,0.00:40.37,0.00:29.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,11.7:0,0:0,0:98,102:49,42:35,31:NM_001271208.1(NEB) c.24979-47A>T,-:0.24,-:0.265296,- 2 152349009 . C . . NT END=152349865;NT GT ./. 2 152349026 rs2288195 G A 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=in-clinvar;PAF=G/0.3616,A/0.6384;Gene=NEB/NM_001164507.1/0;CC=c.24766-18C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.24766-18C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.24871-18C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.19162-18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:12:0:0:17,14:516,431:50.45,0.00:8.91,0.00:41.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.2,12.2:0,0:0,0:109,106:41,44:32,33:NM_001271208.1(NEB) c.24871-18C>T,-:0.7,-:0.641853,- 2 152349960 . C . . NT END=152350288;NT GT ./. 2 152350382 . C . . NT END=152350673;NT GT ./. 2 152350462 rs4664455 T C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3588,C/0.6412;Gene=NEB/NM_001164507.1/0;CC=c.24580-81A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.24580-81A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.24685-81A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18976-81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,T:20:5:0:0:5,15:169,490:14.40,0.00:6.60,0.00:7.80,0.00:0.85,0.00:0.75,0.00:0.98,0.00:60,60:44.4,10.0:0,0:0,0:96,82:54,69:25,21:NM_001271208.1(NEB) c.24685-81A>G,-:0.7,-:NOT_FOUND,- 2 152350768 . C . . NT END=152352788;NT GT ./. 2 152350903 rs397729869 G GTA 18 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6869,GTA/0.3131;DB;DBA=NA;PAF=G/0.6869,GTA/0.3131;NP=468;Gene=NEB/NM_001164507.1/0;CC=c.24487-138_24487-137dupTA;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.24487-138_24487-137dupTA;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.24592-138_24592-137dupTA;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18883-138_18883-137dupTA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,GTA:6:0:5:0:1,5:34,167:0.00,17.91:0.00,0.00:0.00,17.91:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,3.0:0,0:0,0:116,81:35,70:0,48:-,NM_001271208.1(NEB) c.24592-137_24592-136insTA:-,0.34:-,NOT_FOUND 2 152352843 rs7575451 C G 103 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=in-clinvar;PAF=C/0.3722,G/0.6278;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.24433G>C;ProtCh=p.A8145P;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.24433G>C;ProtCh=p.A8145P;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.24538G>C;ProtCh=p.A8180P;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.18829G>C;ProtCh=p.A6277P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:66:46:0:0:33,33:1146,1074:0.00,103.24:0.00,49.95:0.00,53.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,41.2:0,0:0,0:69,68:76,80:33,34:-,NM_001271208.1(NEB) c.24538G>C (p.Ala8180Pro):-,0.68:-,0.628802 2 152352883 . C . . NT END=152353453;NT GT ./. 2 152353395 rs10497081 T G 87 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.7971,G/0.2029;PC=0.002;Gene=NEB/NM_001164507.1/0;CC=c.24393+60A>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.24393+60A>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.24498+60A>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18790-513A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:28:0:0:25,9:841,297:87.48,0.00:75.48,0.00:11.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,3.6:0,0:0,0:65,38:86,111:32,24:NM_001271208.1(NEB) c.24498+60A>C,-:0.24,-:NOT_FOUND,- 2 152353548 . C . . NT END=152353808;NT GT ./. 2 152353795 rs376283107 A AT 8 idl,rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=6;Gene=NEB/NM_001164507.1/0;CC=c.24301-249dupA;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.24301-249dupA;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.24406-249dupA;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18790-914dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,AT,D:26:18:3:4:20,3,3:605,101,132:0.00,7.65,7.55:0.00,6.62,2.34:0.00,1.03,5.22:0.00,0.44,0.00:0.00,0.79,0.00:0.00,0.70,0.00:60,60,60:13.4,7.0,0.0:0,0,1:0,0,0:66,54,97:84,87,53:54,28,3:-,NM_001271208.1(NEB) c.24406-249_24406-248insA:-,NOT_FOUND:-,NOT_FOUND 2 152354867 . C . . NT END=152355811;NT GT ./. 2 152355905 . C . . NT END=152357904;NT GT ./. 2 152357998 . C . . NT END=152359305;NT GT ./. 2 152359400 . C . . NT END=152359861;NT GT ./. 2 152359956 . C . . NT END=152361990;NT GT ./. 2 152360136 rs3835058 AT A 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AT/0.3744,A/0.6256;NP=462;PC=0.002;Gene=NEB/NM_001164507.1/0;CC=c.23743-182delA;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.23743-182delA;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.23848-182delA;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18604-182delA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:AT,A:5:0:0:3:2,3:67,86:0.00,8.57:0.00,0.00:0.00,8.57:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,19.3:0,0:0,0:114,122:36,29:22,16:-,NM_001271208.1(NEB) c.23848-182delA:-,NOT_FOUND:-,NOT_FOUND 2 152362085 . C . . NT END=152362678;NT GT ./. 2 152362398 rs3815852 G C 9 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4443,C/0.5557;Gene=NEB/NM_001164507.1/0;CC=c.23649+282C>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.23649+282C>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.23754+282C>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18510+282C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,G:4:2:0:0:3,1:82,34:8.64,0.00:1.24,0.00:7.40,0.00:0.85,0.00:0.95,0.00:0.95,0.00:60,60:31.7,12.0:0,0:0,0:70,34:81,117:3,0:NM_001271208.1(NEB) c.23754+282C>G,-:0.62,-:NOT_FOUND,- 2 152362773 . C . . NT END=152363421;NT GT ./. 2 152363528 . C . . NT END=152364517;NT GT ./. 2 152364589 rs41270201 G A 36 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=in-clinvar;PAF=G/0.9938,A/0.00619;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.23381C>T;ProtCh=p.S7794L;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.23381C>T;ProtCh=p.S7794L;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.23486C>T;ProtCh=p.S7829L;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.18242C>T;ProtCh=p.S6081L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:15:0:0:13,18:391,567:36.14,0.00:9.36,0.00:26.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,18.8:0,0:0,0:78,81:56,68:32,22:NM_001271208.1(NEB) c.23486C>T (p.Ser7829Leu),-:0.01,-:0.020633,- 2 152364624 . C . . NT END=152369245;NT GT ./. 2 152364685 rs56805351 C G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9822,G/0.01777;PC=0.003;Gene=NEB/NM_001164507.1/0;CC=c.23347-62G>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.23347-62G>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.23452-62G>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18208-62G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,G:13:4:0:0:6,7:169,240:0.00,23.45:0.00,3.21:0.00,20.24:0.00,0.99:0.00,0.96:0.00,1.00:60,60:29.3,37.1:0,0:0,0:123,49:25,101:21,36:-,NM_001271208.1(NEB) c.23452-62G>C:-,0.01:-,NOT_FOUND 2 152369117 rs13023600 T C 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.003395,C/0.9966;NP=1650;Gene=NEB/NM_001164507.1/0;CC=c.23346+130A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.23346+130A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.23451+130A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.18207+130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:543:63.27:63.27:0.00:1.00:1.00:0.00:60:41.7:0:0:50:101:37:NM_001271208.1(NEB) c.23451+130A>G,NM_001271208.1(NEB) c.23451+130A>G:1,1:NOT_FOUND,NOT_FOUND 2 152369352 . C . . NT END=152370092;NT GT ./. 2 152370208 . C . . NT END=152370830;NT GT ./. 2 152370943 . C . . NT END=152371330;NT GT ./. 2 152371443 . C . . NT END=152372971;NT GT ./. 2 152373078 . C . . NT END=152374830;NT GT ./. 2 152374800 rs16830136 G A 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4641,A/0.5359;Gene=NEB/NM_001164507.1/0;CC=c.22800+32C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.22800+32C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.22905+32C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.17661+32C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G:13:10:0:0:8,5:268,155:26.86,0.00:18.71,0.00:8.14,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:35.1,0.0:0,0:0,0:55,39:95,110:39,35:NM_001271208.1(NEB) c.22905+32C>T,-:0.61,-:0.592388,- 2 152374937 . C . . NT END=152375477;NT GT ./. 2 152375584 . C . . NT END=152376170;NT GT ./. 2 152376283 . C . . NT END=152380823;NT GT ./. 2 152380930 . C . . NT END=152381027;NT GT ./. 2 152381131 . C . . NT END=152381675;NT GT ./. 2 152381788 . C . . NT END=152382470;NT GT ./. 2 152381895 rs2288196 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4557,A/0.5443;Gene=NEB/NM_001164507.1/0;CC=c.22162-108C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.22162-108C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.22267-108C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.17023-108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:13:0:0:0:6,7:189,222:17.86,0.00:0.00,0.00:17.86,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:31.5,7.6:0,0:0,0:109,104:39,47:22,11:NM_001271208.1(NEB) c.22267-108C>T,-:0.61,-:NOT_FOUND,- 2 152382199 rs7585717 A G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3532,G/0.6468;Gene=NEB/NM_001164507.1/0;CC=c.22161+273T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.22161+273T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.22266+273T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.17022+273T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:116:13.50:13.50:0.00:1.00:1.00:0.00:60:76.8:0:0:60:90:38:NM_001271208.1(NEB) c.22266+273T>C,NM_001271208.1(NEB) c.22266+273T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 2 152382329 rs7597735 G A 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.4054,A/0.5946;PC=0.014;Gene=NEB/NM_001164507.1/0;CC=c.22161+143C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.22161+143C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.22266+143C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.17022+143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:10:10:0:0:4,6:122,208:11.18,0.00:11.18,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:45.8,0.0:0,0:0,0:74,20:76,129:40,11:NM_001271208.1(NEB) c.22266+143C>T,-:0.65,-:NOT_FOUND,- 2 152382454 rs6721666 C G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=in-clinvar;PAF=C/0.4543,A/.,G/0.5457;Gene=NEB/NM_001164507.1/0;CC=c.22161+18G>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.22161+18G>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.22266+18G>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.17022+18G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:35:0:0:24,13:741,353:0.00,31.03:0.00,25.18:0.00,5.85:0.00,1.00:0.00,1.00:0.00,0.98:60,60:6.6,38.9:0,0:0,0:48,37:95,114:27,21:-,NM_001271208.1(NEB) c.22266+18G>C:-,0.61:-,0.595284 2 152382583 . C . . NT END=152382670;NT GT ./. 2 152382777 . C . . NT END=152383430;NT GT ./. 2 152383537 . C . . NT END=152383993;NT GT ./. 2 152383913 rs2288198 T C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.3932,C/0.6068;Gene=NEB/NM_001164507.1/0;CC=c.21840+82A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.21840+82A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.21945+82A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.16701+82A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:23:0:0:8,16:242,506:21.38,0.00:19.93,0.00:1.45,0.00:0.99,0.00:1.00,0.00:0.81,0.00:60,60:35.2,1.4:0,0:0,0:32,77:117,74:12,42:NM_001271208.1(NEB) c.21945+82A>G,-:0.66,-:NOT_FOUND,- 2 152384100 . C . . NT END=152385722;NT GT ./. 2 152384377 rs10930688 T C 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.394,C/0.606;Gene=NEB/NM_001164507.1/0;CC=c.21736-278A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.21736-278A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.21841-278A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.16597-278A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,T:9:0:0:0:3,6:93,186:8.24,0.00:0.00,0.00:8.24,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:31.0,0.0:0,0:0,0:74,102:77,48:20,28:NM_001271208.1(NEB) c.21841-278A>G,-:0.66,-:NOT_FOUND,- 2 152385829 . C . . NT END=152387506;NT GT ./. 2 152387553 rs4664475 T C 48 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=in-clinvar;PAF=T/0.5084,C/0.4916;Gene=NEB/NM_001164507.1/0;CC=c.21585A>G;ProtCh=p.T7195=;VC=Silent;Gene=NEB/NM_001164508.1/0;CC=c.21585A>G;ProtCh=p.T7195=;VC=Silent;Gene=NEB/NM_001271208.1/1;CC=c.21690A>G;ProtCh=p.T7230=;VC=Silent;Gene=NEB/NM_004543.4/0;CC=c.16446A>G;ProtCh=p.T5482=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:37:27:0:0:1,17,19:11,509,633:0.06,48.11,0.00:-0.11,23.69,0.00:0.17,24.42,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:45.0,38.9,5.1:0,0,0:0,0,0:39,67,54:112,83,95:0,46,27:NM_001271208.1(NEB) c.21690A>G (p.(=)),-:0.56,-:0.553871,- 2 152387616 . C . . NT END=152388304;NT GT ./. 2 152387762 rs6433481 T C 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.397,C/0.603;Gene=NEB/NM_001164507.1/0;CC=c.21523-147A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.21523-147A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.21628-147A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.16384-147A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,T:8:0:0:0:6,2:154,62:16.24,0.00:0.00,0.00:16.24,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:60.8,30.5:0,0:0,0:84,97:66,53:43,1:NM_001271208.1(NEB) c.21628-147A>G,-:0.66,-:NOT_FOUND,- 2 152388228 rs60806638 G C 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4994,C/0.5006;Gene=NEB/NM_001164507.1/0;CC=c.21522+78C>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.21522+78C>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.21627+78C>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.16383+78C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:C,G:20:20:0:0:14,6:488,179:50.18,0.00:48.27,0.00:1.91,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:36.9,0.0:0,0:0,0:44,35:100,115:12,33:NM_001271208.1(NEB) c.21627+78C>G,-:0.56,-:NOT_FOUND,- 2 152388411 . C . . NT END=152389954;NT GT ./. 2 152388415 rs56026241 AT A 73 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=AT/0.5088,A/0.4912;DB;DBA=in-clinvar;PAF=AT/0.5088,A/0.4912;NP=2283;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.21418-6delA;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.21418-6delA;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.21523-6delA;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.16279-6delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,A:47:23:0:24:22,1,24:720,10,755:0.00,-0.01,73.10:0.00,-0.09,17.46:0.00,0.08,55.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.9,94.0,9.6:0,0,0:0,0,0:115,66,102:20,83,48:24,0,20:-,NM_001271208.1(NEB) c.21523-6delA:-,0.56:-,0.547749 2 152390061 . C . . NT END=152390728;NT GT ./. 2 152390834 . C . . NT END=152392203;NT GT ./. 2 152392310 . C . . NT END=152393644;NT GT ./. 2 152393751 . C . . NT END=152394384;NT GT ./. 2 152394491 . C . . NT END=152394652;NT GT ./. 2 152394534 rs3732310 T G 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5012,G/0.4988;Gene=NEB/NM_001164507.1/0;CC=c.20998-44A>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.20998-44A>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.20998-44A>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.15859-44A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:16:0:0:15,15:477,455:45.80,0.00:18.62,0.00:27.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,4.1:0,0:0,0:79,110:71,41:23,25:NM_001271208.1(NEB) c.20998-44A>C,-:0.57,-:0.559799,- 2 152394759 . C . . NT END=152396856;NT GT ./. 2 152396726 rs66541369 T TA 15 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4012,TA/0.5988;DB;DBA=NA;PAF=T/0.4012,TA/0.5988;NP=804;PC=0.001;Gene=NEB/NM_001164507.1/0;CC=c.20892+131dupT;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.20892+131dupT;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.20892+131dupT;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.15753+131dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:T,TA:11:11:5:0:6,5:188,158:0.00,14.89:0.00,14.89:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:20.5,4.8:0,0:0,0:101,97:49,54:14,32:-,NM_001271208.1(NEB) c.20892+131_20892+132insT:-,0.69:-,NOT_FOUND 2 152396963 . C . . NT END=152397209;NT GT ./. 2 152397316 . C . . NT END=152397959;NT GT ./. 2 152398066 . C . . NT END=152402400;NT GT ./. 2 152402513 . C . . NT END=152402857;NT GT ./. 2 152402515 rs368914782 T TAA 13 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;PC=0.649;Gene=NEB/NM_001164507.1/0;CC=c.20467-5_20467-4dupTT;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.20467-5_20467-4dupTT;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.20467-5_20467-4dupTT;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.15328-5_15328-4dupTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:T,TAA:18:10:5:0:13,5:371,150:0.00,12.77:0.00,4.18:0.00,8.60:0.00,0.87:0.00,0.94:0.00,0.98:60,60:16.2,24.8:0,0:0,0:130,72:19,65:8,32:-,NM_001271208.1(NEB) c.20467-4_20467-3insTT:-,NOT_FOUND:-,NOT_FOUND 2 152402711 rs3213818 A G 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.374,G/0.626;Gene=NEB/NM_001164507.1/0;CC=c.20466+148T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.20466+148T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.20466+148T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.15327+148T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:A,G:15:13:0:0:6,9:179,310:0.00,30.94:0.00,31.73:0.00,-0.79:0.00,1.00:0.00,1.00:0.00,0.87:60,60:16.0,35.3:0,0:0,0:72,39:78,112:14,24:-,NM_001271208.1(NEB) c.20466+148T>C:-,0.68:-,NOT_FOUND 2 152402958 . C . . NT END=152403941;NT GT ./. 2 152403014 rs4664486 C T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.4756,T/0.5244;Gene=NEB/NM_001164507.1/0;CC=c.20368-57G>A;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.20368-57G>A;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.20368-57G>A;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.15229-57G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:13:0:0:17,16:523,501:0.00,47.81:0.00,11.17:0.00,36.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.9,56.9:0,0:0,0:113,117:35,33:17,17:-,NM_001271208.1(NEB) c.20368-57G>A:-,0.59:-,NOT_FOUND 2 152403071 . CT C 8 idl,rn VT=DEL;SST=Single;DP=15;NP=1;Gene=NEB/NM_001164507.1/0;CC=c.20368-115delA;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.20368-115delA;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.20368-115delA;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.15229-115delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:CT,I,C:13:1:2:6:7,2,4:210,60,161:0.00,4.77,8.47:0.00,-0.06,-0.13:0.00,4.83,8.60:0.00,0.00,0.76:0.00,0.00,0.51:0.00,0.00,0.97:60,60,60:39.4,26.0,68.2:0,0,2:0,0,0:124,74,86:25,76,65:18,25,20:-,NM_001271208.1(NEB) c.20368-115delA:-,NOT_FOUND:-,NOT_FOUND 2 152404048 . C . . NT END=152404146;NT GT ./. 2 152404253 . C . . NT END=152404820;NT GT ./. 2 152404294 rs2288201 C T 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.376,T/0.624;Gene=NEB/NM_001164507.1/0;CC=c.20158-42G>A;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.20158-42G>A;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.20158-42G>A;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.15019-42G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:7:0:0:8,18:227,526:0.00,54.16:0.00,8.12:0.00,46.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,43.4:0,0:0,0:92,81:59,69:26,40:-,NM_001271208.1(NEB) c.20158-42G>A:-,0.68:-,0.620386 2 152404930 . C . . NT END=152406148;NT GT ./. 2 152406255 . C . . NT END=152408250;NT GT ./. 2 152408360 . C . . NT END=152409184;NT GT ./. 2 152408973 rs4664056 C G 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4774,G/0.5226;Gene=NEB/NM_001164507.1/0;CC=c.19836+213G>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.19836+213G>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.19836+213G>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.14697+213G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,G:6:6:0:0:2,4:68,131:0.00,13.35:0.00,13.35:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,32.8:0,0:0,0:23,86:126,65:18,32:-,NM_001271208.1(NEB) c.19836+213G>C:-,0.59:-,NOT_FOUND 2 152409291 . C . . NT END=152409910;NT GT ./. 2 152409416 rs2288203 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4778,T/0.5222;Gene=NEB/NM_001164507.1/0;CC=c.19732-126G>A;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.19732-126G>A;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.19732-126G>A;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.14593-126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:11:0:0:0:5,6:130,192:0.00,18.81:0.00,0.00:0.00,18.81:0.00,0.98:0.00,0.00:0.00,0.98:60,60:10.4,51.0:0,0:0,0:65,122:85,29:58,22:-,NM_001271208.1(NEB) c.19732-126G>A:-,0.59:-,NOT_FOUND 2 152410017 . C . . NT END=152410340;NT GT ./. 2 152410540 . C . . NT END=152411443;NT GT ./. 2 152410732 rs6731486 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.7013,G/0.2987;Gene=NEB/NM_001164507.1/0;CC=c.19429-193T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.19429-193T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.19429-193T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.14290-193T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,G:11:1:0:0:4,7:127,241:0.00,24.31:0.00,3.88:0.00,20.43:0.00,1.00:0.00,0.76:0.00,1.00:60,60:17.2,34.4:0,0:0,0:106,110:44,41:22,14:-,NM_001271208.1(NEB) c.19429-193T>C:-,0.32:-,NOT_FOUND 2 152411559 . C . . NT END=152417104;NT GT ./. 2 152417214 . C . . NT END=152417516;NT GT ./. 2 152417311 rs397722862 T TC 29 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7929,TC/0.2071;DB;DBA=NA;PAF=T/0.7929,TC/0.2071;NP=625;Gene=NEB/NM_001164507.1/0;CC=c.19207-99dupG;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.19207-99dupG;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.19207-99dupG;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.14068-99dupG;VC=Intron;DM=NEB/Nebulin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TC:17:3:10:0:7,10:221,293:0.00,29.06:0.00,5.13:0.00,23.93:0.00,1.00:0.00,0.94:0.00,1.00:60,60:5.6,5.1:0,0:0,0:139,108:12,42:9,22:-,NM_001271208.1(NEB) c.19207-99_19207-98insG:-,0.22:-,NOT_FOUND 2 152417623 . C . . NT END=152417720;NT GT ./. 2 152417827 . C . . NT END=152418622;NT GT ./. 2 152417999 rs7424331 C T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3474,T/0.6526;Gene=NEB/NM_001164507.1/0;CC=c.18997-173G>A;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.18997-173G>A;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.18997-173G>A;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.13858-173G>A;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:7:0:0:0:4,3:114,102:0.00,9.56:0.00,0.00:0.00,9.56:0.00,0.69:0.00,0.00:0.00,0.69:60,60:18.8,66.0:0,0:0,0:92,78:57,73:38,6:-,NM_001271208.1(NEB) c.18997-173G>A:-,0.68:-,NOT_FOUND 2 152418022 rs7419413 T C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3476,C/0.6524;Gene=NEB/NM_001164507.1/0;CC=c.18997-196A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.18997-196A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.18997-196A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.13858-196A>G;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:7:0:0:0:4,3:126,94:12.43,0.00:0.00,0.00:12.43,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:67.8,25.0:0,0:0,0:91,93:60,55:13,39:NM_001271208.1(NEB) c.18997-196A>G,-:0.7,-:NOT_FOUND,- 2 152418729 . C . . NT END=152419123;NT GT ./. 2 152419323 . C . . NT END=152420118;NT GT ./. 2 152420234 . C . . NT END=152420335;NT GT ./. 2 152420445 . C . . NT END=152421556;NT GT ./. 2 152421663 . C . . NT END=152422013;NT GT ./. 2 152421937 rs7602715 A G 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7222,G/0.2778;Gene=NEB/NM_001164507.1/0;CC=c.18366+78T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.18366+78T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.18366+78T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.13227+78T>C;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G,T:9:9:0:0:2,6,1:66,212,11:0.00,22.05,0.57:0.00,20.15,0.57:0.00,1.90,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.78,0.00:60,60,60:0.0,38.0,46.0:0,0,0:0,0,0:57,30,139:94,121,11:32,8,0:-,NM_001271208.1(NEB) c.18366+78T>C:-,0.29:-,NOT_FOUND 2 152422076 rs2288210 C G 57 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=in-clinvar;PAF=C/0.3468,G/0.6532;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.18305G>C;ProtCh=p.R6102T;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.18305G>C;ProtCh=p.R6102T;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.18305G>C;ProtCh=p.R6102T;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.13166G>C;ProtCh=p.R4389T;VC=Missense;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:28:22:0:0:10,18:322,559:0.00,56.52:0.00,38.14:0.00,18.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,61.2:0,0:0,0:28,66:122,84:19,47:-,NM_001271208.1(NEB) c.18305G>C (p.Arg6102Thr):-,0.7:-,0.649773 2 152422120 . C . . NT END=152422228;NT GT ./. 2 152422335 . C . . NT END=152423680;NT GT ./. 2 152423459 rs7557092 T A 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8209,A/0.1791;Gene=NEB/NM_001164507.1/0;CC=c.18156+223A>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.18156+223A>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.18156+223A>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.13017+223A>T;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,T:6:6:0:0:4,2:117,55:11.95,0.00:11.95,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:32.2,13.5:0,0:0,0:37,55:113,95:21,37:NM_001271208.1(NEB) c.18156+223A>T,-:0.21,-:NOT_FOUND,- 2 152423994 . C . . NT END=152424583;NT GT ./. 2 152424693 . C . . NT END=152424828;NT GT ./. 2 152424932 . C . . NT END=152425130;NT GT ./. 2 152424933 rs75873810 T TA 26 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.4908,TA/0.5066,TAA/0.002596;DB;DBA=NA;PAF=T/0.4908,TA/0.5066;DB;DBA=NA;PAF=T/0.4908,TA/0.5066,TAA/0.002596,TAAA/.;DB;DBA=NA;PAF=NA;NP=11;NP=907;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.17635-3dupT;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.17635-3dupT;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.17635-3dupT;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.12496-3dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,TA,D:28:10:10:3:1,1,13,10,3:11,11,360,284,77:0.14,0.14,0.00,26.25,5.60:-0.06,0.28,0.00,5.64,-0.20:0.21,-0.14,0.00,20.60,5.80:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.98,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:138.0,167.0,22.3,22.9,41.0:0,0,0,0,0:0,0,0,0,0:105,8,115,102,80:6,124,35,48,69:0,0,18,23,8:-,NM_001271208.1(NEB) c.17635-3_17635-2insT:-,NOT_FOUND:-,NOT_FOUND 2 152425231 . C . . NT END=152425780;NT GT ./. 2 152425887 . C . . NT END=152426593;NT GT ./. 2 152426907 . C . . NT END=152427009;NT GT ./. 2 152427116 . C . . NT END=152432207;NT GT ./. 2 152427249 rs7568873 A G 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3522,G/0.6478;Gene=NEB/NM_001164507.1/0;CC=c.17014-134T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.17014-134T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.17014-134T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11875-134T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:19:0:0:0:10,7,2:317,226,23:0.00,20.91,0.93:0.00,0.00,0.00:0.00,20.91,0.93:0.00,0.98,0.00:0.00,0.00,0.00:0.00,0.98,0.00:60,60,60:10.4,36.4,59.0:0,0,0:0,0,0:93,96,77:58,55,73:31,43,7:-,NM_001271208.1(NEB) c.17014-134T>C:-,0.7:-,NOT_FOUND 2 152432314 . C . . NT END=152432663;NT GT ./. 2 152432481 rs3771901 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7875,A/0.2125;Gene=NEB/NM_001164507.1/0;CC=c.16909-168C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.16909-168C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.16909-168C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11770-168C>T;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:9:5:0:0:7,2:206,69:21.80,0.00:18.34,0.00:3.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,0.0:0,0:0,0:66,81:84,68:34,39:NM_001271208.1(NEB) c.16909-168C>T,-:0.25,-:NOT_FOUND,- 2 152432869 . C . . NT END=152435850;NT GT ./. 2 152435780 . G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;Gene=NEB/NM_001164507.1/0;CC=c.16704+72C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.16704+72C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.16704+72C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-2912C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,G:48:45:0:0:5,43:111,1418:6.77,0.00:7.01,0.00:-0.24,0.00:0.73,0.00:0.97,0.00:0.50,0.00:25,50:35.6,5.8:0,0:0,0:99,37:52,104:10,27:NM_001271208.1(NEB) c.16704+72C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 152435840 rs62174689 C G 83 nt VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.6925,G/0.3075;NP=70;Gene=NEB/NM_001164507.1/0;CC=c.16704+12G>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.16704+12G>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.16704+12G>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-2972G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:95:89:0:0:64,31:2064,942:0.00,82.95:0.00,70.68:0.00,12.27:0.00,1.00:0.00,1.00:0.00,1.00:52,40:6.6,32.5:0,0:0,0:53,23:89,128:25,19:-,NM_001271208.1(NEB) c.16704+12G>C:-,NOT_FOUND:-,NOT_FOUND 2 152436164 . C . . NT END=152437309;NT GT ./. 2 152437419 . C . . NT END=152437995;NT GT ./. 2 152438102 . C . . NT END=152438976;NT GT ./. 2 152439182 . C . . NT END=152439967;NT GT ./. 2 152440281 . C . . NT END=152442019;NT GT ./. 2 152442129 . C . . NT END=152442917;NT GT ./. 2 152443024 . C . . NT END=152443886;NT GT ./. 2 152444092 . C . . NT END=152446401;NT GT ./. 2 152446715 . C . . NT END=152447860;NT GT ./. 2 152447585 . A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;Gene=NEB/NM_001164507.1/0;CC=c.14934+277T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.14934+277T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.14934+277T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-14717T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:10:10:0:0:7,3:212,98:0.00,8.58:0.00,8.58:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:25,25:18.4,239.0:0,0:0,0:41,5:106,133:23,5:-,NM_001271208.1(NEB) c.14934+277T>C:-,NOT_FOUND:-,NOT_FOUND 2 152447624 . C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;Gene=NEB/NM_001164507.1/0;CC=c.14934+238G>A;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.14934+238G>A;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.14934+238G>A;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-14756G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,T:12:12:0:0:9,3:288,98:0.00,8.30:0.00,8.30:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:25,25:19.8,239.0:0,0:0,0:70,44:81,94:33,5:-,NM_001271208.1(NEB) c.14934+238G>A:-,NOT_FOUND:-,NOT_FOUND 2 152447626 . T C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;Gene=NEB/NM_001164507.1/0;CC=c.14934+236A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.14934+236A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.14934+236A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-14758A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T:13:13:0:0:3,10:102,307:8.58,0.00:8.58,0.00:0.00,0.00:0.58,0.00:0.58,0.00:0.00,0.00:25,25:239.0,20.0:0,0:0,0:46,71:92,80:5,36:NM_001271208.1(NEB) c.14934+236A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 152447686 . A G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;NP=1;Gene=NEB/NM_001164507.1/0;CC=c.14934+176T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.14934+176T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.14934+176T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-14818T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,G:21:21:0:0:17,4:511,127:0.00,10.17:0.00,10.17:0.00,0.00:0.00,0.70:0.00,0.70:0.00,0.00:25,25:28.4,226.8:0,0:0,0:43,102:108,41:25,8:-,NM_001271208.1(NEB) c.14934+176T>C:-,NOT_FOUND:-,NOT_FOUND 2 152447693 . A G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;NP=9;Gene=NEB/NM_001164507.1/0;CC=c.14934+169T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.14934+169T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.14934+169T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-14825T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,G:22:22:0:0:15,7:435,163:0.00,13.66:0.00,13.66:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:25,25:78.0,31.3:0,0:0,0:37,68:114,83:16,29:-,NM_001271208.1(NEB) c.14934+169T>C:-,NOT_FOUND:-,NOT_FOUND 2 152447845 rs200531108 G GC 145 nt VT=INS;SST=Single;DP=215;DB;DBA=NA;PAF=G/0.8446,GC/0.1554;DB;DBA=NA;PAF=NA;NP=455;Gene=NEB/NM_001164507.1/0;CC=c.14934+16_14934+17insG;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.14934+16_14934+17insG;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.14934+16_14934+17insG;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11566-14978_11566-14977insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:215:196:60:0:155,60:5057,1712:0.00,144.57:0.00,107.30:0.00,37.27:0.00,1.00:0.00,1.00:0.00,1.00:42,51:4.0,5.4:0,0:0,0:31,38:118,103:23,20:-,NM_001271208.1(NEB) c.14934+16_14934+17insG:-,0.19:-,0.186585 2 152447970 . C . . NT END=152448546;NT GT ./. 2 152448640 rs200541641 T C 77 lc VT=SNV;PN=T;NN=G;SST=Single;DP=253;DB;DBA=NA;PAF=NA;NP=64;PC=0.229;Gene=NEB/NM_001164507.1/0;CC=c.14734A>G;ProtCh=p.N4912D;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.14734A>G;ProtCh=p.N4912D;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.14734A>G;ProtCh=p.N4912D;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.11566-15772A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:253:143:0:0:38,215:1051,6927:77.22,0.00:20.77,0.00:56.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,57:45.9,6.4:0,0:0,0:112,89:37,55:16,30:NM_001271208.1(NEB) c.14734A>G (p.Asn4912Asp),-:NOT_FOUND,-:NOT_FOUND,- 2 152448653 . C . . NT END=152449528;NT GT ./. 2 152449734 . C . . NT END=152450519;NT GT ./. 2 152450833 . C . . NT END=152452572;NT GT ./. 2 152452682 . C . . NT END=152453470;NT GT ./. 2 152453577 . C . . NT END=152454439;NT GT ./. 2 152454645 . C . . NT END=152456954;NT GT ./. 2 152457268 . C . . NT END=152458413;NT GT ./. 2 152458523 . C . . NT END=152459099;NT GT ./. 2 152459116 . G A 13 end,lc VT=SNV;PN=G;NN=G;SST=Single;DP=4;NP=16;Gene=NEB/NM_001164507.1/0;CC=c.13353C>T;ProtCh=p.A4451=;VC=Silent;Gene=NEB/NM_001164508.1/0;CC=c.13353C>T;ProtCh=p.A4451=;VC=Silent;Gene=NEB/NM_001271208.1/1;CC=c.13353C>T;ProtCh=p.A4451=;VC=Silent;Gene=NEB/NM_004543.4/0;CC=c.11565+7207C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:109:12.80:12.80:0.00:1.00:1.00:0.00:40:35.5:0:0:5:144:2:NM_001271208.1(NEB) c.13353C>T (p.(=)),NM_001271208.1(NEB) c.13353C>T (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 152459206 . C . . NT END=152460081;NT GT ./. 2 152460287 . C . . NT END=152461072;NT GT ./. 2 152461386 . C . . NT END=152463118;NT GT ./. 2 152463228 . C . . NT END=152464016;NT GT ./. 2 152463841 rs71415168 T A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=NEB/NM_001164507.1/0;CC=c.12639+177A>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.12639+177A>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.12639+177A>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.11565+2482A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,T:12:12:0:0:6,6:195,188:18.75,0.00:18.75,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:41,60:32.5,4.8:0,0:0,0:13,40:138,109:3,38:NM_001271208.1(NEB) c.12639+177A>T,-:0.01,-:NOT_FOUND,- 2 152464123 . C . . NT END=152464985;NT GT ./. 2 152465191 . C . . NT END=152466321;NT GT ./. 2 152466635 . C . . NT END=152467028;NT GT ./. 2 152467138 . C . . NT END=152467274;NT GT ./. 2 152467381 . C . . NT END=152468698;NT GT ./. 2 152468904 . C . . NT END=152470788;NT GT ./. 2 152471102 . C . . NT END=152472514;NT GT ./. 2 152472624 . C . . NT END=152473876;NT GT ./. 2 152473983 . C . . NT END=152474787;NT GT ./. 2 152474993 . C . . NT END=152475963;NT GT ./. 2 152475938 rs10186656 T G 78 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.7512,C/.,G/0.2488;Gene=NEB/NM_001164507.1/0;CC=c.10872+27A>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.10872+27A>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.10872+27A>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.10107+27A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:54:48:0:0:26,28:819,878:78.05,0.00:54.09,0.00:23.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.5,15.9:0,0:0,0:48,74:100,76:22,24:NM_001271208.1(NEB) c.10872+27A>C,-:0.29,-:0.315961,- 2 152476028 rs10172023 C G 122 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=82;DB;DBA=in-clinvar;PAF=C/0.7802,G/0.2198;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.10809G>C;ProtCh=p.W3603C;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.10809G>C;ProtCh=p.W3603C;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.10809G>C;ProtCh=p.W3603C;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.10044G>C;ProtCh=p.W3348C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:82:60:0:0:43,39:1402,1277:0.00,121.63:0.00,69.55:0.00,52.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,53.7:0,0:0,0:55,75:93,76:26,39:-,NM_001271208.1(NEB) c.10809G>C (p.Trp3603Cys):-,0.25:-,0.268743 2 152476277 . C . . NT END=152477431;NT GT ./. 2 152477541 . C . . NT END=152482046;NT GT ./. 2 152481977 rs10186482 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5435,G/0.4565;Gene=NEB/NM_001164507.1/0;CC=c.10452+71T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.10452+71T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.10452+71T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.9687+71T>C;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:304,248:0.00,23.51:0.00,23.65:0.00,-0.14:0.00,0.99:0.00,0.99:0.00,0.65:60,60:2.0,32.5:0,0:0,0:33,49:118,101:18,35:-,NM_001271208.1(NEB) c.10452+71T>C:-,0.53:-,NOT_FOUND 2 152482153 . C . . NT END=152483514;NT GT ./. 2 152483720 . C . . NT END=152484035;NT GT ./. 2 152484349 . C . . NT END=152486051;NT GT ./. 2 152486161 . C . . NT END=152487227;NT GT ./. 2 152487334 . C . . NT END=152487655;NT GT ./. 2 152487861 . C . . NT END=152490166;NT GT ./. 2 152490219 rs6709886 A G 265 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=A/0.374,C/.,G/0.626;Gene=NEB/NM_001164507.1/0;CC=c.9363T>C;ProtCh=p.P3121=;VC=Silent;Gene=NEB/NM_001164508.1/0;CC=c.9363T>C;ProtCh=p.P3121=;VC=Silent;Gene=NEB/NM_001271208.1/1;CC=c.9363T>C;ProtCh=p.P3121=;VC=Silent;Gene=NEB/NM_004543.4/0;CC=c.8854-2886T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:185:166:0:0:92,93:3039,2770:0.00,265.43:0.00,191.34:0.00,74.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,39.7:0,0:0,0:73,54:72,94:35,33:-,NM_001271208.1(NEB) c.9363T>C (p.(=)):-,0.67:-,0.598774 2 152490458 rs6710212 A G 512 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=A/0.02796,G/0.972;PC=0.341;Gene=NEB/NM_001164507.1/0;CC=c.9124T>C;ProtCh=p.C3042R;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.9124T>C;ProtCh=p.C3042R;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.9124T>C;ProtCh=p.C3042R;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.8854-3125T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:148:39:0:0:1,147:5,4425:0.02,511.72:0.00,87.01:0.02,424.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,40.0:0,0:0,0:40,96:107,53:0,33:NM_001271208.1(NEB) c.9124T>C (p.Cys3042Arg),NM_001271208.1(NEB) c.9124T>C (p.Cys3042Arg):0.98,0.98:0.97569,0.97569 2 152490480 . C . . NT END=152492739;NT GT ./. 2 152492849 . C . . NT END=152495792;NT GT ./. 2 152495321 rs71996133 CTGTG C 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;Gene=NEB/NM_001164507.1/0;CC=c.8994+469_8994+472delCACA;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.8994+469_8994+472delCACA;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.8994+469_8994+472delCACA;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.8853+1082_8853+1085delCACA;VC=Intron;DM=NEB/Nebulin;DM=NEB/SH3_9;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:3:0:4:2:129:7.15:3.23:3.93:0.51:0.89:0.89:60:30.0:2:0:49:81:15:NM_001271208.1(NEB) c.8994+469_8994+472delCACA,NM_001271208.1(NEB) c.8994+469_8994+472delCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 152495899 . C . . NT END=152496369;NT GT ./. 2 152496038 rs13032138 G A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5753,A/0.4247;Gene=NEB/NM_001164507.1/0;CC=c.8890-140C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.8890-140C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.8890-140C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.8853+369C>T;VC=Intron;DM=NEB/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:A,G:11:2:0:0:7,4:210,117:21.18,0.00:7.16,0.00:14.02,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:51.6,30.8:0,0:0,0:46,67:105,83:17,15:NM_001271208.1(NEB) c.8890-140C>T,-:0.39,-:NOT_FOUND,- 2 152496526 rs6713162 A G 53 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=A/0.5547,G/0.4453;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.8734T>C;ProtCh=p.S2912P;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.8734T>C;ProtCh=p.S2912P;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.8734T>C;ProtCh=p.S2912P;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.8734T>C;ProtCh=p.S2912P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:24:0:0:23,17:680,566:0.00,52.87:0.00,23.98:0.00,28.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.7,34.1:0,0:0,0:99,95:52,54:36,23:-,NM_001271208.1(NEB) c.8734T>C (p.Ser2912Pro):-,0.42:-,0.301016 2 152496575 . C . . NT END=152496867;NT GT ./. 2 152497181 . C . . NT END=152499086;NT GT ./. 2 152499196 . C . . NT END=152499277;NT GT ./. 2 152499384 . C . . NT END=152499662;NT GT ./. 2 152499501 rs35172004 T A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.7686,A/0.2314;Gene=NEB/NM_001164507.1/0;CC=c.8161-118A>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.8161-118A>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.8161-118A>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.8161-118A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:16:6:0:0:9,7:301,214:29.63,0.00:9.51,0.00:20.13,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:44.7,4.0:0,0:0,0:79,78:71,73:30,48:NM_001271208.1(NEB) c.8161-118A>T,-:0.2,-:NOT_FOUND,- 2 152499580 rs4664494 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5925,T/0.4075;Gene=NEB/NM_001164507.1/0;CC=c.8160+84G>A;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.8160+84G>A;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.8160+84G>A;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.8160+84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:15:9:0:0:10,5:338,142:0.00,12.42:0.00,8.94:0.00,3.48:0.00,0.89:0.00,0.64:0.00,0.42:60,60:1.0,53.0:0,0:0,0:59,107:89,43:14,23:-,NM_001271208.1(NEB) c.8160+84G>A:-,0.38:-,NOT_FOUND 2 152499868 . C . . NT END=152500330;NT GT ./. 2 152500019 rs28375835 G A 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.7863,A/0.2137;Gene=NEB/NM_001164507.1/0;CC=c.7957-152C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.7957-152C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.7957-152C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.7957-152C>T;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:22:7:0:0:10,11,1:312,377,10:29.63,0.00,0.12:18.49,0.00,0.34:11.14,0.00,-0.22:1.00,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:60,60,60:53.7,3.5,31.0:0,0,0:0,0,0:88,115,115:62,36,35:33,10,0:NM_001271208.1(NEB) c.7957-152C>T,-:0.21,-:NOT_FOUND,- 2 152500449 rs13013209 C G 488 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=306;DB;DBA=in-clinvar;PAF=C/0.7067,G/0.2933;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.7839G>C;ProtCh=p.K2613N;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.7839G>C;ProtCh=p.K2613N;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.7839G>C;ProtCh=p.K2613N;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.7839G>C;ProtCh=p.K2613N;VC=Missense;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:306:232:0:0:152,154:5089,5073:0.00,488.46:0.00,288.58:0.00,199.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,39.3:0,0:0,0:53,62:97,86:34,38:-,NM_001271208.1(NEB) c.7839G>C (p.Lys2613Asn):-,0.3:-,0.349761 2 152500644 . C . . NT END=152500980;NT GT ./. 2 152501090 . C . . NT END=152502642;NT GT ./. 2 152502749 . C . . NT END=152506688;NT GT ./. 2 152506894 . C . . NT END=152507086;NT GT ./. 2 152507400 . C . . NT END=152510504;NT GT ./. 2 152510614 . C . . NT END=152511782;NT GT ./. 2 152511778 rs10930723 A C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=in-clinvar;PAF=A/0.5691,C/0.4309;Gene=NEB/NM_001164507.1/0;CC=c.6807+6T>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.6807+6T>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.6807+6T>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.6807+6T>G;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C:15:11:0:0:9,6:283,158:0.00,14.24:0.00,6.69:0.00,7.55:0.00,0.96:0.00,0.99:0.00,0.98:60,60:8.7,44.0:0,0:0,0:45,23:101,127:17,12:-,NM_001271208.1(NEB) c.6807+6T>G:-,0.4:-,0.290505 2 152511889 . C . . NT END=152512329;NT GT ./. 2 152512538 . C . . NT END=152512665;NT GT ./. 2 152512979 . C . . NT END=152514495;NT GT ./. 2 152514605 . C . . NT END=152515577;NT GT ./. 2 152514753 rs4536649 T C 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6226,C/0.3774;Gene=NEB/NM_001164507.1/0;CC=c.6076-149A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.6076-149A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.6076-149A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.6076-149A>G;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,T:7:0:0:0:3,4:105,130:9.86,0.00:0.00,0.00:9.86,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:35.0,20.2:0,0:0,0:99,89:52,61:5,28:NM_001271208.1(NEB) c.6076-149A>G,-:0.35,-:NOT_FOUND,- 2 152515684 . C . . NT END=152518647;NT GT ./. 2 152518856 . C . . NT END=152520060;NT GT ./. 2 152520027 rs12620077 A G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5799,G/0.4201;Gene=NEB/NM_001164507.1/0;CC=c.5763+35T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.5763+35T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.5763+35T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.5763+35T>C;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:31:0:0:20,14:641,405:0.00,37.10:0.00,32.60:0.00,4.50:0.00,1.00:0.00,1.00:0.00,0.95:60,60:5.2,41.3:0,0:0,0:45,48:101,102:19,15:-,NM_001271208.1(NEB) c.5763+35T>C:-,0.39:-,0.285797 2 152520374 . C . . NT END=152521013;NT GT ./. 2 152520535 rs5835375 AT A 19 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=457;PC=0.002;Gene=NEB/NM_001164507.1/0;CC=c.5452-163delA;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.5452-163delA;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.5452-163delA;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.5452-163delA;VC=Intron;DM=NEB/Nebulin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:AT,A:10:0:0:6:4,6:127,192:0.00,19.14:0.00,0.00:0.00,19.14:0.00,0.99:0.00,0.00:0.00,0.99:60,60:7.5,17.3:0,0:0,0:145,94:6,56:1,27:-,NM_001271208.1(NEB) c.5452-163delA:-,NOT_FOUND:-,NOT_FOUND 2 152520550 rs5005569 G C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6719,A/.,C/0.3281;PC=0.002;Gene=NEB/NM_001164507.1/0;CC=c.5452-177C>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.5452-177C>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.5452-177C>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.5452-177C>G;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,G:6:0:0:0:3,3:104,103:10.03,0.00:0.00,0.00:10.03,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:34.7,0.0:0,0:0,0:93,135:56,16:12,9:NM_001271208.1(NEB) c.5452-177C>G,-:0.3,-:NOT_FOUND,- 2 152521096 rs10170273 C T 72 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=in-clinvar;PAF=C/0.5651,T/0.4349;PC=0.132;Gene=NEB/NM_001164507.1/0;CC=c.5370G>A;ProtCh=p.E1790=;VC=Silent;Gene=NEB/NM_001164508.1/0;CC=c.5370G>A;ProtCh=p.E1790=;VC=Silent;Gene=NEB/NM_001271208.1/1;CC=c.5370G>A;ProtCh=p.E1790=;VC=Silent;Gene=NEB/NM_004543.4/0;CC=c.5370G>A;ProtCh=p.E1790=;VC=Silent;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:32:0:0:27,23:857,765:0.00,72.49:0.00,36.32:0.00,36.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,34.7:0,0:0,0:89,88:62,63:32,26:-,NM_001271208.1(NEB) c.5370G>A (p.(=)):-,0.41:-,0.295108 2 152521123 . C . . NT END=152521271;NT GT ./. 2 152521378 . C . . NT END=152521845;NT GT ./. 2 152521539 rs12328501 A G 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6204,G/0.3796;Gene=NEB/NM_001164507.1/0;CC=c.5239-162T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.5239-162T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.5239-162T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.5239-162T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,G:11:4:0:0:4,7:127,236:0.00,23.81:0.00,6.68:0.00,17.13:0.00,1.00:0.00,0.98:0.00,1.00:60,60:0.0,37.6:0,0:0,0:46,58:104,93:27,26:-,NM_001271208.1(NEB) c.5239-162T>C:-,0.35:-,NOT_FOUND 2 152522054 . C . . NT END=152522602;NT GT ./. 2 152522556 rs4664496 T C 51 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.6991,A/.,C/0.3009;PC=0.002;Gene=NEB/NM_001164507.1/0;CC=c.5031+48A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.5031+48A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.5031+48A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.5031+48A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:37:0:0:17,22:547,696:51.22,0.00:44.23,0.00:6.99,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:34.2,2.6:0,0:0,0:72,28:77,122:46,22:NM_001271208.1(NEB) c.5031+48A>G,-:0.28,-:0.16928,- 2 152522916 . C . . NT END=152524316;NT GT ./. 2 152524426 . C . . NT END=152525539;NT GT ./. 2 152525471 rs58903550 A G 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6627,G/0.3373;Gene=NEB/NM_001164507.1/0;CC=c.4611+70T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.4611+70T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.4611+70T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.4611+70T>C;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G:13:12:0:0:7,6:216,171:0.00,16.04:0.00,16.44:0.00,-0.40:0.00,0.97:0.00,1.00:0.00,0.76:60,60:4.9,39.3:0,0:0,0:55,25:96,125:36,16:-,NM_001271208.1(NEB) c.4611+70T>C:-,0.32:-,NOT_FOUND 2 152525646 . C . . NT END=152527535;NT GT ./. 2 152527572 rs7426114 C T 107 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=in-clinvar;PAF=C/0.4669,T/0.5331;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.4471G>A;ProtCh=p.V1491M;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.4471G>A;ProtCh=p.V1491M;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.4471G>A;ProtCh=p.V1491M;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.4471G>A;ProtCh=p.V1491M;VC=Missense;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:54:0:0:33,34:1075,1105:0.00,106.53:0.00,62.85:0.00,43.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.5,36.0:0,0:0,0:69,73:81,70:36,26:-,NM_001271208.1(NEB) c.4471G>A (p.Val1491Met):-,0.57:-,0.661461 2 152527608 rs34577613 C T 107 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=73;DB;DBA=in-clinvar;PAF=C/0.6647,T/0.3353;PC=0.007;Gene=NEB/NM_001164507.1/0;CC=c.4435G>A;ProtCh=p.V1479I;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.4435G>A;ProtCh=p.V1479I;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.4435G>A;ProtCh=p.V1479I;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.4435G>A;ProtCh=p.V1479I;VC=Missense;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:50:0:0:39,34:1250,1131:0.00,107.47:0.00,57.74:0.00,49.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.2,38.8:0,0:0,0:88,73:62,76:43,26:-,NM_001271208.1(NEB) c.4435G>A (p.Val1479Ile):-,0.32:-,0.19139 2 152527744 . C . . NT END=152528881;NT GT ./. 2 152529195 . C . . NT END=152530989;NT GT ./. 2 152531077 rs6711382 A G 76 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.2839,C/.,G/0.7161;PC=1.000;Gene=NEB/NM_001164507.1/0;CC=c.3901T>C;ProtCh=p.Y1301H;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.3901T>C;ProtCh=p.Y1301H;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.3901T>C;ProtCh=p.Y1301H;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.3901T>C;ProtCh=p.Y1301H;VC=Missense;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:29:0:0:20,24:608,782:0.00,76.46:0.00,37.88:0.00,38.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,44.2:0,0:0,0:92,86:51,39:38,28:-,NM_001271208.1(NEB) c.=:-,0.74:-,0.817781 2 152531099 . C . . NT END=152531799;NT GT ./. 2 152531781 rs12618063 C A 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7123,A/0.2877;Gene=NEB/NM_001164507.1/0;CC=c.3879+20G>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.3879+20G>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.3879+20G>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.3879+20G>T;VC=Intron;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,C:19:16:0:0:13,6:425,183:43.54,0.00:34.20,0.00:9.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.1,8.2:0,0:0,0:61,28:90,121:13,16:NM_001271208.1(NEB) c.3879+20G>T,-:0.27,-:0.164308,- 2 152531906 . C . . NT END=152534077;NT GT ./. 2 152534286 . C . . NT END=152534388;NT GT ./. 2 152534702 . C . . NT END=152536233;NT GT ./. 2 152536343 . C . . NT END=152536430;NT GT ./. 2 152536498 rs6735208 T A 44 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=in-clinvar;PAF=T/0.4165,A/0.5835;PC=0.350;Gene=NEB/NM_001164507.1/0;CC=c.3081A>T;ProtCh=p.K1027N;VC=Missense;Gene=NEB/NM_001164508.1/0;CC=c.3081A>T;ProtCh=p.K1027N;VC=Missense;Gene=NEB/NM_001271208.1/1;CC=c.3081A>T;ProtCh=p.K1027N;VC=Missense;Gene=NEB/NM_004543.4/0;CC=c.3081A>T;ProtCh=p.K1027N;VC=Missense;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:31:0:0:15,30:490,921:43.74,0.00:26.45,0.00:17.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,12.0:0,0:0,0:98,91:39,57:29,29:NM_001271208.1(NEB) c.3081A>T (p.Lys1027Asn),-:0.62,-:0.698568,- 2 152536537 . C . . NT END=152537242;NT GT ./. 2 152537343 . C . . NT END=152539174;NT GT ./. 2 152539284 . C . . NT END=152541290;NT GT ./. 2 152539477 rs4289189 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4517,T/0.5483;Gene=NEB/NM_001164507.1/0;CC=c.2836-194G>A;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.2836-194G>A;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.2836-194G>A;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.2836-194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:109:12.79:0.00:12.79:1.00:0.00:1.00:60:60.5:0:0:133:4:13:NM_001271208.1(NEB) c.2836-194G>A,NM_001271208.1(NEB) c.2836-194G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 2 152541134 rs7564674 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4503,C/0.5497;Gene=NEB/NM_001164507.1/0;CC=c.2835+158A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.2835+158A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.2835+158A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.2835+158A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:C,T:13:13:0:0:5,8:165,270:15.12,0.00:15.12,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:66.4,15.4:0,0:0,0:53,54:83,96:14,9:NM_001271208.1(NEB) c.2835+158A>G,-:0.58,-:NOT_FOUND,- 2 152541490 . C . . NT END=152543931;NT GT ./. 2 152544047 . C . . NT END=152544138;NT GT ./. 2 152544248 . C . . NT END=152544804;NT GT ./. 2 152544911 . C . . NT END=152547239;NT GT ./. 2 152547340 . C . . NT END=152548376;NT GT ./. 2 152548483 . C . . NT END=152548571;NT GT ./. 2 152548681 . C . . NT END=152548773;NT GT ./. 2 152548877 . C . . NT END=152550835;NT GT ./. 2 152550727 rs74532673 T C 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8958,C/0.1042;PC=0.001;Gene=NEB/NM_001164507.1/0;CC=c.1896+110A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.1896+110A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.1896+110A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.1896+110A>G;VC=Intron;DM=NEB/SH3_9;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:12,12:365,330:35.00,0.00:35.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.5,16.6:0,0:0,0:48,42:102,108:19,37:NM_001271208.1(NEB) c.1896+110A>G,-:0.09,-:NOT_FOUND,- 2 152550951 . C . . NT END=152551034;NT GT ./. 2 152551144 . C . . NT END=152552090;NT GT ./. 2 152551210 rs10193188 G A 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5771,A/0.4229;Gene=NEB/NM_001164507.1/0;CC=c.1675-67C>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.1675-67C>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.1675-67C>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.1675-67C>T;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:3:0:0:18,23:542,759:50.54,0.00:5.28,0.00:45.26,0.00:1.00,0.00:0.84,0.00:1.00,0.00:60,60:43.8,4.4:0,0:0,0:98,114:51,36:33,32:NM_001271208.1(NEB) c.1675-67C>T,-:0.4,-:NOT_FOUND,- 2 152552062 rs6433569 A C 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5012,C/0.4988,T/.;Gene=NEB/NM_001164507.1/0;CC=c.1674+30T>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.1674+30T>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.1674+30T>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.1674+30T>G;VC=Intron;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:34:31:0:0:19,15:636,483:0.00,45.32:0.00,28.12:0.00,17.21:0.00,1.00:0.00,1.00:0.00,0.99:60,60:12.1,34.1:0,0:0,0:57,29:94,114:44,23:-,NM_001271208.1(NEB) c.1674+30T>G:-,0.53:-,0.629211 2 152552197 . C . . NT END=152553149;NT GT ./. 2 152552342 rs4564766 T A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5683,A/0.4317;Gene=NEB/NM_001164507.1/0;CC=c.1570-146A>T;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.1570-146A>T;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.1570-146A>T;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.1570-146A>T;VC=Intron;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,T:14:0:0:0:6,8:161,262:14.78,0.00:0.00,0.00:14.78,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:28.5,3.2:0,0:0,0:105,116:46,34:30,13:NM_001271208.1(NEB) c.1570-146A>T,-:0.41,-:NOT_FOUND,- 2 152553250 . C . . NT END=152553660;NT GT ./. 2 152553767 . C . . NT END=152553862;NT GT ./. 2 152553972 . C . . NT END=152554056;NT GT ./. 2 152554163 . C . . NT END=152563393;NT GT ./. 2 152554362 rs146743760 C G 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9267,G/0.07328;PC=0.001;Gene=NEB/NM_001164507.1/0;CC=c.1153-200G>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.1153-200G>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.1153-200G>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.1153-200G>C;VC=Intron;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,G:8:0:0:0:2,6:61,175:0.00,18.38:0.00,0.00:0.00,18.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:17.5,29.2:0,0:0,0:129,107:20,43:18,6:-,NM_001271208.1(NEB) c.1153-200G>C:-,0.06:-,NOT_FOUND 2 152563512 . C . . NT END=152566168;NT GT ./. 2 152566278 . C . . NT END=152566946;NT GT ./. 2 152566433 rs12464543 A G 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4099,G/0.5901;PC=0.531;Gene=NEB/NM_001164507.1/0;CC=c.928-156T>C;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.928-156T>C;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.928-156T>C;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.928-156T>C;VC=Intron;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,G:8:0:0:0:3,5:76,144:0.00,14.51:0.00,0.00:0.00,14.51:0.00,0.97:0.00,0.00:0.00,0.97:60,60:34.3,41.6:0,0:0,0:62,98:89,53:10,8:-,NM_001271208.1(NEB) c.928-156T>C:-,0.63:-,NOT_FOUND 2 152567053 . C . . NT END=152573928;NT GT ./. 2 152573902 rs76400407 A AGGC 52 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.4307,AGAC/.,AGGC/0.5693,AGGG/.;DB;DBA=NA;PAF=A/0.4307,AGGC/0.5693;DB;DBA=NA;PAF=NA;NP=2913;Gene=NEB/NM_001164507.1/0;CC=c.822+25_822+27dupGCC;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.822+25_822+27dupGCC;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.822+25_822+27dupGCC;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.822+25_822+27dupGCC;VC=Intron;DM=NEB/Nebulin;DM=NEB/Nebulin;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGGC:25:20:16:0:9,16:292,514:0.00,51.94:0.00,37.49:0.00,14.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,21.1:0,0:0,0:14,45:137,105:10,31:-,NM_001271208.1(NEB) c.822+27_822+28insGCC:-,0.59:-,NOT_FOUND 2 152573981 rs4611637 A G 83 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=in-clinvar;PAF=A/0.4307,G/0.5693;PC=0.383;Gene=NEB/NM_001164507.1/0;CC=c.771T>C;ProtCh=p.A257=;VC=Silent;Gene=NEB/NM_001164508.1/0;CC=c.771T>C;ProtCh=p.A257=;VC=Silent;Gene=NEB/NM_001271208.1/1;CC=c.771T>C;ProtCh=p.A257=;VC=Silent;Gene=NEB/NM_004543.4/0;CC=c.771T>C;ProtCh=p.A257=;VC=Silent;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:27:0:0:19,26:648,837:0.00,82.79:0.00,39.76:0.00,43.03:0.00,1.00:0.00,1.00:0.00,1.00:60,70:2.0,33.3:0,0:0,0:59,74:75,75:20,24:-,NM_001271208.1(NEB) c.771T>C (p.(=)):-,0.61:-,0.686113 2 152574035 . C . . NT END=152579894;NT GT ./. 2 152580001 . C . . NT END=152580772;NT GT ./. 2 152580879 . C . . NT END=152581369;NT GT ./. 2 152581476 . C . . NT END=152581965;NT GT ./. 2 152581866 rs4300824 T C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3381,C/0.6619;PC=0.014;Gene=NEB/NM_001164507.1/0;CC=c.402+101A>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.402+101A>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.402+101A>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.402+101A>G;VC=Intron;DM=NEB/Nebulin;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,T:12:12:0:0:5,7:144,225:13.22,0.00:13.22,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:35.0,2.1:0,0:0,0:39,30:112,120:7,7:NM_001271208.1(NEB) c.402+101A>G,-:0.7,-:NOT_FOUND,- 2 152582075 . C . . NT END=152584203;NT GT ./. 2 152584153 rs4664499 A C 105 nt VT=SNV;PN=T;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=A/0.2518,C/0.7482;Gene=NEB/NM_001164507.1/0;CC=c.294+52T>G;VC=Intron;Gene=NEB/NM_001164508.1/0;CC=c.294+52T>G;VC=Intron;Gene=NEB/NM_001271208.1/1;CC=c.294+52T>G;VC=Intron;Gene=NEB/NM_004543.4/0;CC=c.294+52T>G;VC=Intron;DM=NEB/Nebulin;DM=NEB/Nebulin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:49:47:0:0:18,31:540,1038:0.00,104.68:0.00,95.86:0.00,8.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,40.0:0,0:0,0:33,69:117,71:22,40:-,NM_001271208.1(NEB) c.294+52T>G:-,0.78:-,NOT_FOUND 2 152584421 . C . . NT END=152586127;NT GT ./. 2 152586171 . C . . NT END=152589633;NT GT ./. 2 152589671 . T . . NT END=152659789;NT GT ./. 2 152659839 . C . . NT END=152663334;NT GT ./. 2 152663487 . C . . NT END=152668870;NT GT ./. 2 152668644 rs6433656 C T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1332,T/0.8668;PC=0.236;Gene=ARL5A/NM_001037174.1/1;CC=c.228+227G>A;VC=Intron;Gene=ARL5A/NM_012097.3/0;CC=c.339+227G>A;VC=Intron;Gene=ARL5A/NM_177985.2/0;CC=c.228+227G>A;VC=Intron;DM=ARL5A/Arf GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:6:6:0:0:2,4:65,129:0.00,13.15:0.00,13.15:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:33.0,83.2:0,0:0,0:79,24:71,127:65,11:-,NM_012097.3(ARL5A) c.339+227G>A:-,0.9:-,NOT_FOUND 2 152668750 rs2030588 C A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2374,A/0.7626;Gene=ARL5A/NM_001037174.1/1;CC=c.228+121G>T;VC=Intron;Gene=ARL5A/NM_012097.3/0;CC=c.339+121G>T;VC=Intron;Gene=ARL5A/NM_177985.2/0;CC=c.228+121G>T;VC=Intron;DM=ARL5A/Arf GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,C,G:10:10:0:0:7,2,1:223,66,10:23.51,0.00,0.47:23.51,0.00,0.47:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:65.6,0.0,37.0:0,0,0:0,0,0:86,106,70:64,43,81:50,14,0:NM_012097.3(ARL5A) c.339+121G>T,-:0.8,-:NOT_FOUND,- 2 152668955 . C . . NT END=152670682;NT GT ./. 2 152670831 . C . . NT END=152671652;NT GT ./. 2 152671714 . C . . NT END=152684644;NT GT ./. 2 152684691 . T . . NT END=152695632;NT GT ./. 2 152684704 . AC A,ACC 87 idl,nt VT=INS;SST=Single;DP=66;NP=6;PC=0.786 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:200:AC,ACC,A:66:51:28:29:12,28,26:322,873,830:0.00,87.38,82.31:0.00,50.75,46.53:0.00,36.64,35.78:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.2,11.0,8.2:0,0,0:0,0,0:138,69,87:9,73,57:10,18,22:NM_012097.3(ARL5A) c.-23G[8],NM_012097.3(ARL5A) c.-15dupG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 152695894 . C . . NT END=152698416;NT GT ./. 2 152698603 . C . . NT END=152709961;NT GT ./. 2 152709897 . G GA 7 rn VT=INS;SST=Single;DP=24;NP=1;PC=0.001;Gene=CACNB4/NM_001005747.2/0;CC=c.1014+64dupT;VC=Intron;Gene=CACNB4/NM_001005746.2/0;CC=c.1062+64dupT;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.1116+64dupT;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.1116+64dupT;VC=Intron;DM=CACNB4/Guanylate_kin;DM=CACNB4/Guanylate_kin;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:G,GA:24:22:3:0:21,3:731,99:0.00,7.41:0.00,7.61:0.00,-0.20:0.00,0.47:0.00,0.88:0.00,0.48:60,60:3.9,0.0:0,0:0,0:39,50:111,100:25,20:-,NM_000726.3(CACNB4) c.1116+64_1116+65insT:-,NOT_FOUND:-,NOT_FOUND 2 152710058 . C . . NT END=152711737;NT GT ./. 2 152711890 . C . . NT END=152717224;NT GT ./. 2 152717335 . C . . NT END=152725690;NT GT ./. 2 152725750 . C . . NT END=152727044;NT GT ./. 2 152727126 . C . . NT END=152727355;NT GT ./. 2 152727376 . C . . NT END=152728930;NT GT ./. 2 152729008 . C . . NT END=152732939;NT GT ./. 2 152729138 rs770609 T C 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.007588,C/0.9924;NP=2557;PC=0.991;Gene=CACNB4/NM_001005747.2/0;CC=c.420-131A>G;VC=Intron;Gene=CACNB4/NM_001005746.2/0;CC=c.468-131A>G;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.522-131A>G;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.522-131A>G;VC=Intron;DM=CACNB4/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:1:0:0:12:410:46.72:2.04:44.68:1.00:1.00:1.00:60:40.1:0:0:96:53:22:NM_000726.3(CACNB4) c.522-131A>G,NM_000726.3(CACNB4) c.522-131A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 152733071 . C . . NT END=152737313;NT GT ./. 2 152733248 rs369528860 G GACTAA 10 idl,nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=CACNB4/NM_001005747.2/0;CC=c.289-179_289-178insTTAGT;VC=Intron;Gene=CACNB4/NM_001005746.2/0;CC=c.337-179_337-178insTTAGT;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.391-179_391-178insTTAGT;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.391-179_391-178insTTAGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:G,GACTAA:9:0:8:0:5,4:150,239:0.00,10.46:0.00,0.00:0.00,10.46:0.00,0.79:0.00,0.00:0.00,0.79:60,70:13.6,19.2:0,4:0,0:144,81:6,70:3,32:-,NM_000726.3(CACNB4) c.391-179_391-178insTTAGT:-,NOT_FOUND:-,NOT_FOUND 2 152737437 . C . . NT END=152739764;NT GT ./. 2 152739506 rs2680972 T C 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.002995,C/0.997;NP=414;Gene=CACNB4/NM_001005747.2/0;CC=c.165+259A>G;VC=Intron;Gene=CACNB4/NM_001005746.2/0;CC=c.213+259A>G;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.267+259A>G;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.267+259A>G;VC=Intron;DM=CACNB4/VGCC_beta4Aa_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:159:18.28:18.28:0.00:1.00:1.00:0.00:60:34.8:0:0:35:115:33:NM_000726.3(CACNB4) c.267+259A>G,NM_000726.3(CACNB4) c.267+259A>G:1,1:NOT_FOUND,NOT_FOUND 2 152739885 . C . . NT END=152830182;NT GT ./. 2 152813771 rs70974811 C CGTGTAT 11 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;Gene=CACNB4/NM_001005747.2/0;CC=c.45+16411_45+16412insATACAC;VC=Intron;Gene=CACNB4/NM_001005746.2/0;CC=c.94-73888_94-73887insATACAC;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.148-73888_148-73887insATACAC;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.148-73888_148-73887insATACAC;VC=Intron;DM=CACNB4/VGCC_beta4Aa_N;DM=CACNB4/VGCC_beta4Aa_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CGTGTAT:3:5:5:0:3:160:10.66:5.63:5.03:0.78:0.78:0.94:70:43.3:2:0:33:88:11:NM_000726.3(CACNB4) c.148-73888_148-73887insATACAC,NM_000726.3(CACNB4) c.148-73888_148-73887insATACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 152830486 . G . . NT END=152954843;NT GT ./. 2 152861046 rs5835400 TACAC T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TACAC/0.02137,T/0.9786;DB;DBA=NA;PAF=TACAC/0.02137,T/0.9786;DB;DBA=NA;PAF=TACAC/0.02137,T/0.9786;NP=191;Gene=CACNB4/NM_001005746.2/0;CC=c.93+93794_93+93797delGTGT;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.147+93794_147+93797delGTGT;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.147+93794_147+93797delGTGT;VC=Intron;DM=CACNB4/VGCC_beta4Aa_N;DM=CACNB4/VGCC_beta4Aa_N;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:TACAC,T:3:4:0:3:1,2:11,101:0.00,6.76:0.00,1.59:0.00,5.17:0.00,0.51:0.00,0.51:0.00,0.51:60,60:55.0,4.5:0,1:0,0:69,71:82,71:0,9:-,NM_000726.3(CACNB4) c.147+93794_147+93797delGTGT:-,NOT_FOUND:-,NOT_FOUND 2 152861054 rs2345159 C T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.02137,T/0.9786;NP=1;PC=0.029;Gene=CACNB4/NM_001005746.2/0;CC=c.93+93790G>A;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.147+93790G>A;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.147+93790G>A;VC=Intron;DM=CACNB4/VGCC_beta4Aa_N;DM=CACNB4/VGCC_beta4Aa_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,T:4:4:0:0:2,2:49,68:0.00,6.56:0.00,3.28:0.00,3.28:0.00,0.51:0.00,0.51:0.00,0.51:60,60:27.5,4.5:1,2:0,0:48,79:102,57:28,4:-,NM_000726.3(CACNB4) c.147+93790G>A:-,NOT_FOUND:-,NOT_FOUND 2 152875320 rs57206441 A AACACACACAC 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=8;PC=0.004;Gene=CACNB4/NM_001005746.2/0;CC=c.93+79523_93+79524insGTGTGTGTGT;VC=Intron;Gene=CACNB4/NM_000726.3/1;CC=c.147+79523_147+79524insGTGTGTGTGT;VC=Intron;Gene=CACNB4/NM_001145798.1/0;CC=c.147+79523_147+79524insGTGTGTGTGT;VC=Intron;DM=CACNB4/VGCC_beta4Aa_N;DM=CACNB4/VGCC_beta4Aa_N;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,AACACACACAC,D:5:5:3:1:1,3,1:34,101,34:0.00,10.47,3.08:0.00,10.47,3.08:0.00,0.00,0.00:0.00,0.78,0.00:0.00,0.78,0.00:0.00,0.00,0.00:60,70,60:0.0,9.3,0.0:0,0,0:0,0,0:79,45,78:34,106,73:0,0,0:-,NM_000726.3(CACNB4) c.147+79523_147+79524insGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 152954928 . C . . NT END=152955154;NT GT ./. 2 152955236 . G . . NT END=152955462;NT GT ./. 2 152955526 . C . . NT END=152977087;NT GT ./. 2 152977317 . C . . NT END=152980279;NT GT ./. 2 152980450 . C . . NT END=152982739;NT GT ./. 2 152982894 . C . . NT END=152988627;NT GT ./. 2 152988683 . C . . NT END=152989686;NT GT ./. 2 152989775 . C . . NT END=152989915;NT GT ./. 2 152989999 . C . . NT END=152992022;NT GT ./. 2 152992118 . C . . NT END=153000340;NT GT ./. 2 153000528 . C . . NT END=153001401;NT GT ./. 2 153001472 . C . . NT END=153003675;NT GT ./. 2 153003823 . C . . NT END=153004537;NT GT ./. 2 153004637 . C . . NT END=153004738;NT GT ./. 2 153004815 . C . . NT END=153006658;NT GT ./. 2 153004816 . T TA 10 idl,rn VT=INS;SST=Single;DP=64;NP=18;PC=1.000;Gene=STAM2/NM_005843.5/1;CC=c.126-3dupT;VC=Intron;DM=STAM2/VHS;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,T,TA,D:63:37:6:4:1,53,5,4:8,1599,179,130:-0.28,0.00,9.51,8.62:-0.13,0.00,1.62,1.96:-0.15,0.00,7.89,6.67:0.00,0.00,0.68,0.00:0.00,0.00,0.86,0.00:0.00,0.00,0.96,0.00:60,60,70,60:84.0,11.2,32.4,11.0:0,0,1,0:0,0,0,0:112,98,77,123:39,45,46,27:0,24,30,3:-,NM_005843.4(STAM2) c.126-3_126-2insT:-,NOT_FOUND:-,NOT_FOUND 2 153006744 . C . . NT END=153032116;NT GT ./. 2 153032157 . C . . NT END=153192117;NT GT ./. 2 153192235 . G . . NT END=153378456;NT GT ./. 2 153192324 rs2003332 C T 139 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.6362,T/0.3638;Gene=FMNL2/NM_052905.3/1;CC=c.117+90C>T;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:2:0:0:36:1215:138.67:5.57:133.10:1.00:1.00:1.00:60:40.2:0:0:125:25:18:NM_052905.3(FMNL2) c.117+90C>T,NM_052905.3(FMNL2) c.117+90C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 2 153246044 rs2346203 A G 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.146,G/0.854;Gene=FMNL2/NM_052905.3/1;CC=c.117+53810A>G;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:19:0:0:19:605:69.54:69.54:0.00:1.00:1.00:0.00:60:39.4:0:0:65:85:42:NM_052905.3(FMNL2) c.117+53810A>G,NM_052905.3(FMNL2) c.117+53810A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 153247201 rs3901192 C T 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.4992,T/0.5008;PC=0.002;Gene=FMNL2/NM_052905.3/1;CC=c.117+54967C>T;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:396:45.75:0.00:45.75:1.00:0.00:1.00:60:50.2:0:0:115:36:22:NM_052905.3(FMNL2) c.117+54967C>T,NM_052905.3(FMNL2) c.117+54967C>T:0.51,0.51:NOT_FOUND,NOT_FOUND 2 153378459 rs4664114 T C 45 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.3093,C/0.6907;PC=1.000;Gene=FMNL2/NM_052905.3/1;CC=c.120T>C;ProtCh=p.N40=;VC=Silent;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:32:0:0:16,22:486,731:44.96,0.00:16.16,0.00:28.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,5.5:0,0:0,0:84,55:66,91:30,36:NM_052905.3(FMNL2) c.120T>C (p.(=)),-:0.7,-:0.654282,- 2 153378541 . G . . NT END=153399252;NT GT ./. 2 153378574 rs4664592 A G 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4613,G/0.5387;Gene=FMNL2/NM_052905.3/1;CC=c.201+34A>G;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:12:0:0:16,10:549,331:0.00,30.35:0.00,3.77:0.00,26.58:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.2,58.1:0,0:0,0:90,120:58,19:32,21:-,NM_052905.3(FMNL2) c.201+34A>G:-,0.54:-,0.555424 2 153378652 rs4664593 G A 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4615,A/0.5385;Gene=FMNL2/NM_052905.3/1;CC=c.201+112G>A;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,G:14:0:0:0:3,11:96,361:7.88,0.00:0.00,0.00:7.88,0.00:0.56,0.00:0.00,0.00:0.56,0.00:60,60:53.7,12.5:0,0:0,0:112,108:39,43:35,31:NM_052905.3(FMNL2) c.201+112G>A,-:0.54,-:NOT_FOUND,- 2 153399334 . G . . NT END=153405534;NT GT ./. 2 153399497 rs12614414 A C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.7075,C/0.2925;Gene=FMNL2/NM_052905.3/1;CC=c.282+164A>C;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:14:0:0:0:7,7:197,247:0.00,23.85:0.00,0.00:0.00,23.85:0.00,0.99:0.00,0.00:0.00,0.99:60,60:36.0,42.9:0,0:0,0:76,110:75,41:40,14:-,NM_052905.3(FMNL2) c.282+164A>C:-,0.31:-,NOT_FOUND 2 153405594 rs1155779 G A 73 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.3476,A/0.6524;PC=1.000;Gene=FMNL2/NM_052905.3/1;CC=c.342G>A;ProtCh=p.L114=;VC=Silent;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:32:0:0:23,24:758,759:72.65,0.00:30.05,0.00:42.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,16.5:0,0:0,0:86,81:55,64:21,26:NM_052905.3(FMNL2) c.342G>A (p.(=)),-:0.63,-:0.561693,- 2 153405612 . G . . NT END=153415253;NT GT ./. 2 153405684 rs12468789 A G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8688,G/0.1312;PC=0.012;Gene=FMNL2/NM_052905.3/1;CC=c.359+73A>G;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:4:0:0:11,8:336,241:0.00,22.31:0.00,1.34:0.00,20.96:0.00,0.99:0.00,0.89:0.00,0.99:60,60:17.4,61.8:0,0:0,0:75,108:75,42:27,14:-,NM_052905.3(FMNL2) c.359+73A>G:-,0.11:-,NOT_FOUND 2 153415229 rs539038584 A AT 22 idl,rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=32;PC=0.130;Gene=FMNL2/NM_052905.3/1;CC=c.360-10dupT;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT,D:25:24:9:3:14,1,8,2:380,10,272,96:0.00,0.06,21.67,4.53:0.00,0.11,12.82,1.92:0.00,-0.04,8.85,2.62:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.96,0.00:60,60,60,60:13.3,10.0,39.5,27.0:1,0,1,1:0,0,0,0:64,125,47,48:85,19,96,103:57,0,17,0:-,NM_052905.3(FMNL2) c.360-25_360-24insT:-,NOT_FOUND:-,NOT_FOUND 2 153415244 rs70974869 T C 13 idl;end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.2945,C/0.5024;DB;DBA=NA;PAF=T/0.2945,TC/0.1927,TCC/.,TT/.,TTC/0.01038,TTTC/.,TTTTC/.;NP=6;NP=642;NP=936;Gene=FMNL2/NM_052905.3/1;CC=c.360-10T>C;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:C,T,I:29:25:4:0:5,20,4:165,574,121:13.44,0.00,9.29:9.47,0.00,8.81:3.96,0.00,0.48:0.80,0.00,0.00:0.97,0.00,0.00:0.89,0.00,0.00:60,60,60:46.4,21.2,19.0:0,0,0:0,0,0:4,52,79:94,91,71:2,22,33:NM_052905.3(FMNL2) c.360-10T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 153415338 . G . . NT END=153417396;NT GT ./. 2 153415376 rs6434098 T G 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.2268,G/0.7732;PC=0.426;Gene=FMNL2/NM_052905.3/1;CC=c.443+39T>G;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:12:0:0:11,18:348,589:31.69,0.00:11.02,0.00:20.67,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:49.7,10.1:0,0:0,0:124,100:27,47:13,26:NM_052905.3(FMNL2) c.443+39T>G,-:0.78,-:0.791999,- 2 153417325 rs6713836 A G 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.2444,G/0.7556;Gene=FMNL2/NM_052905.3/1;CC=c.444-72A>G;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:39:0:0:23,19:774,639:0.00,60.40:0.00,51.39:0.00,9.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,42.2:0,0:0,0:47,46:97,104:21,40:-,NM_052905.3(FMNL2) c.444-72A>G:-,0.75:-,NOT_FOUND 2 153417550 . G . . NT END=153431649;NT GT ./. 2 153431759 . G . . NT END=153435401;NT GT ./. 2 153435434 rs16831399 C T 44 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8572,T/0.1428;PC=0.699;Gene=FMNL2/NM_052905.3/1;CC=c.738C>T;ProtCh=p.H246=;VC=Silent;DM=FMNL2/FH2;DM=FMNL2/Drf_GBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:25:0:0:15,14:478,457:0.00,43.61:0.00,25.97:0.00,17.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,47.2:0,0:0,0:86,67:54,82:18,27:-,NM_052905.3(FMNL2) c.738C>T (p.(=)):-,0.15:-,0.17208 2 153435479 . G . . NT END=153437469;NT GT ./. 2 153437564 . G . . NT END=153463852;NT GT ./. 2 153463928 . G . . NT END=153468008;NT GT ./. 2 153463984 rs72210499 TACAC T 22 sb;idl,rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=90;PC=0.021;Gene=FMNL2/NM_052905.3/1;CC=c.951+91_951+94delCACA;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_FH3;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TACAC,T:25:10:0:13:16,9:497,371:0.00,22.24:0.00,0.70:0.00,21.54:0.00,0.99:0.00,0.96:0.00,1.00:60,60:3.6,30.1:0,4:0,0:133,68:17,83:13,15:-,NM_052905.3(FMNL2) c.951+58_951+61delACAC:-,NOT_FOUND:-,NOT_FOUND 2 153467862 rs10931191 C A 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.1853,A/0.8147;Gene=FMNL2/NM_052905.3/1;CC=c.952-147C>A;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_FH3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:388:44.52:44.52:0.00:1.00:1.00:0.00:60:39.9:0:0:18:133:12:NM_052905.3(FMNL2) c.952-147C>A,NM_052905.3(FMNL2) c.952-147C>A:0.81,0.81:NOT_FOUND,NOT_FOUND 2 153468107 rs35776654 C T 73 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9481,T/0.05192;PC=0.002;Gene=FMNL2/NM_052905.3/1;CC=c.1050C>T;ProtCh=p.D350=;VC=Silent;DM=FMNL2/FH2;DM=FMNL2/Drf_FH3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:23:0:0:22,22:676,758:0.00,73.07:0.00,21.14:0.00,51.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,36.8:0,0:0,0:89,97:43,39:28,23:-,NM_052905.3(FMNL2) c.1050C>T (p.(=)):-,0.07:-,0.104139 2 153468120 . G . . NT END=153471364;NT GT ./. 2 153471200 rs13023975 T C 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8185,C/0.1815;Gene=FMNL2/NM_052905.3/1;CC=c.1063-165T>C;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_FH3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:11:11:0:0:7,4:248,129:25.01,0.00:25.01,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.4,0.0:0,0:0,0:70,31:80,119:40,10:NM_052905.3(FMNL2) c.1063-165T>C,-:0.15,-:NOT_FOUND,- 2 153471255 rs70974877 T TCAAAACAAAACAAAACAAAA 19 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9679,A/0.03215;DB;DBA=NA;PAF=T/0.8634,TCAAAA/.,TCAAAACAAAA/.,TCAAAACAAAACAAAACAAAA/0.1366;PC=0.009;Gene=FMNL2/NM_052905.3/1;CC=c.1063-85_1063-84insCAAAACAAAACAAAACAAAA;VC=Intron;DM=FMNL2/FH2;DM=FMNL2/Drf_FH3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TCAAAACAAAACAAAACAAAA:26:26:7:0:1,18,7:5,591,222:-0.22,0.00,19.10:-0.22,0.00,19.10:0.00,0.00,0.00:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.00:60,60,60:5.0,7.6,10.0:0,0,0:0,0,0:38,24,36:111,126,115:0,21,13:-,NM_052905.3(FMNL2) c.1063-110_1063-109insCAAAACAAAACAAAACAAAA:-,NOT_FOUND:-,NOT_FOUND 2 153471515 . G . . NT END=153473604;NT GT ./. 2 153473521 rs12693415 A C 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.5609,C/0.4391;Gene=FMNL2/NM_052905.3/1;CC=c.1213-84A>C;VC=Intron;DM=FMNL2/Drf_FH3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:24:24:0:0:13,11:411,378:0.00,35.86:0.00,34.56:0.00,1.30:0.00,1.00:0.00,1.00:0.00,0.85:60,60:16.4,42.2:0,0:0,0:50,58:100,92:29,15:-,NM_052905.3(FMNL2) c.1213-84A>C:-,0.4:-,NOT_FOUND 2 153473707 . G . . NT END=153475359;NT GT ./. 2 153473794 rs2304556 T G 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.6258,G/0.3742;PC=0.019;Gene=FMNL2/NM_052905.3/1;CC=c.1314+88T>G;VC=Intron;DM=FMNL2/Drf_FH3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:4:0:0:11,18:383,522:35.20,0.00:3.45,0.00:31.76,0.00:1.00,0.00:0.85,0.00:1.00,0.00:60,60:36.7,11.7:0,0:0,0:79,94:71,56:21,43:NM_052905.3(FMNL2) c.1314+88T>G,-:0.36,-:NOT_FOUND,- 2 153475673 . G . . NT END=153476022;NT GT ./. 2 153476066 rs5835439 G GCCA 179 PASS VT=INS;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.001997,GACC/.,GCCA/0.998,GCCACCC/.,GCCACCCC/.,GCTA/.;NP=420;PC=0.308;Gene=FMNL2/NM_052905.3/1;CC=c.1673_1674insACC;ProtCh=p.P573_L574insP;VC=InFrameIns;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,C,G,GCCA:79:35:55:0:7,6,11,55:176,69,255,1665:13.23,3.23,0.00,178.68:3.23,2.25,0.00,38.56:10.01,0.98,0.00,140.13:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:49.4,50.0,21.0,5.6:0,0,0,0:0,0,0,0:11,104,145,58:140,26,3,88:10,9,4,31:-,NM_052905.3(FMNL2) c.1673_1674insACC (p.Pro573dup):-,NOT_FOUND:-,NOT_FOUND 2 153476233 . G . . NT END=153477475;NT GT ./. 2 153477260 rs6736003 C T 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8444,T/0.1556;Gene=FMNL2/NM_052905.3/1;CC=c.1837+1028C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:11:11:0:0:4,7:110,192:0.00,19.35:0.00,19.35:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.8,33.7:0,0:0,0:18,11:132,140:13,7:-,NM_052905.3(FMNL2) c.1837+1028C>T:-,0.14:-,NOT_FOUND 2 153477606 . G . . NT END=153481951;NT GT ./. 2 153481943 rs2346532 T C 293 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.001797,C/0.9982;NP=3453;Gene=FMNL2/NM_052905.3/1;CC=c.1838-9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:82:58:0:0:81,1:2559,8:292.84,0.00:162.91,0.00:129.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,94.0:0,0:0,0:69,74:74,75:32,0:NM_052905.3(FMNL2) c.1838-9T>C,NM_052905.3(FMNL2) c.1838-9T>C:1,1:0.998669,0.998669 2 153482077 . G . . NT END=153483038;NT GT ./. 2 153482128 rs12478681 G A 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.8774,A/0.1226;Gene=FMNL2/NM_052905.3/1;CC=c.1962+52G>A;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:47:17:0:0:22,24,1:754,716,11:72.09,0.00,0.01:13.12,0.00,0.19:58.97,0.00,-0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,4.5,81.0:0,0,0:0,0,0:83,78,103:64,69,48:28,37,0:NM_052905.3(FMNL2) c.1962+52G>A,-:0.1,-:0.108196,- 2 153483242 . G . . NT END=153484812;NT GT ./. 2 153483257 rs7604573 T C 98 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.4523,C/0.5477;Gene=FMNL2/NM_052905.3/1;CC=c.2165+16T>C;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:21:0:0:31,33:1021,1007:97.67,0.00:23.80,0.00:73.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,5.6:0,0:0,0:101,102:50,49:27,30:NM_052905.3(FMNL2) c.2165+16T>C,-:0.59,-:0.470783,- 2 153484685 rs3811570 G A 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.4673,A/0.5327;Gene=FMNL2/NM_052905.3/1;CC=c.2166-128G>A;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:13,9:422,269:41.94,0.00:41.94,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.5,6.4:0,0:0,0:29,81:122,70:15,20:NM_052905.3(FMNL2) c.2166-128G>A,-:0.58,-:NOT_FOUND,- 2 153485048 . G . . NT END=153486169;NT GT ./. 2 153486239 . G . . NT END=153486338;NT GT ./. 2 153486420 . G . . NT END=153488521;NT GT ./. 2 153488652 . G . . NT END=153492940;NT GT ./. 2 153488963 rs10185455 G A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3083,A/0.6917;PC=0.001;Gene=FMNL2/NM_052905.3/1;CC=c.2680+312G>A;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G,T:8:0:0:0:4,3,1:76,97,7:7.33,0.00,0.20:0.00,0.00,0.00:7.33,0.00,0.20:0.87,0.00,0.00:0.00,0.00,0.00:0.87,0.00,0.00:60,60,60:61.5,34.3,245.0:0,0,0:0,0,0:102,75,67:46,76,83:3,31,0:NM_052905.3(FMNL2) c.2680+312G>A,-:0.72,-:NOT_FOUND,- 2 153492910 rs1561267 G T 187 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.1735,T/0.8265;Gene=FMNL2/NM_052905.3/1;CC=c.2681-31G>T;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:T:51:44:0:0:51:1624:186.65:141.53:45.12:1.00:1.00:1.00:60:43.5:0:0:60:91:38:NM_052905.3(FMNL2) c.2681-31G>T,NM_052905.3(FMNL2) c.2681-31G>T:0.84,0.84:0.848095,0.848095 2 153493105 . G . . NT END=153494086;NT GT ./. 2 153493286 rs2272535 G A 77 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1376,A/0.8624;Gene=FMNL2/NM_052905.3/1;CC=c.2844+182G>A;VC=Intron;DM=FMNL2/FH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:0:0:0:23:662:77.01:0.00:77.01:1.00:0.00:1.00:60:44.0:0:0:117:34:14:NM_052905.3(FMNL2) c.2844+182G>A,NM_052905.3(FMNL2) c.2844+182G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 2 153494189 . G . . NT END=153496471;NT GT ./. 2 153496571 . G . . NT END=153497304;NT GT ./. 2 153497168 rs1465818 C T 107 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.001997,T/0.998;NP=1622;Gene=FMNL2/NM_052905.3/1;CC=c.3046-137C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:28:0:0:29:933:107.12:97.73:9.39:1.00:1.00:1.00:60:43.6:0:0:67:83:29:NM_052905.3(FMNL2) c.3046-137C>T,NM_052905.3(FMNL2) c.3046-137C>T:1,1:NOT_FOUND,NOT_FOUND 2 153497429 . G . . NT END=153499932;NT GT ./. 2 153499610 rs3817620 G T 39 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1076,T/0.8924;Gene=FMNL2/NM_052905.3/1;CC=c.3169+2182G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:11:0:0:11:334:38.62:36.68:1.94:1.00:1.00:1.00:60:48.5:0:0:54:95:25:NM_052905.3(FMNL2) c.3169+2182G>T,NM_052905.3(FMNL2) c.3169+2182G>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 153500450 . t . . NT END=153501947;NT GT ./. 2 153502042 . G . . NT END=153504309;NT GT ./. 2 153502243 rs71394494 G GTATT 15 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8798,GTATT/0.1202;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.8798,GTATT/0.1202;NP=215;PC=0.968;Gene=FMNL2/NM_052905.3/1;CC=c.3170-2065_3170-2062dupATTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:G,GTATT:11:0:5:0:6,5:205,158:0.00,14.89:0.00,0.00:0.00,14.89:0.00,0.93:0.00,0.00:0.00,0.93:60,70:0.0,4.8:0,0:0,0:49,83:100,67:32,20:-,NM_052905.3(FMNL2) c.3170-2067_3170-2066insTATT:-,0.11:-,NOT_FOUND 2 153504420 . A . . NT END=153512819;NT GT ./. 2 153504552 rs12693429 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.615,A/0.385;PC=1.000;Gene=FMNL2/NM_052905.3/1;CC=c.*133G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:7,9:218,276:20.37,0.00:0.00,0.00:20.37,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:38.3,7.2:0,0:0,0:105,81:46,70:25,55:NM_052905.3(FMNL2) c.*133G>A,-:0.34,-:NOT_FOUND,- 2 153512913 . C . . NT END=153514402;NT GT ./. 2 153514535 . C . . NT END=153515461;NT GT ./. 2 153514583 rs6713779 G C 112 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.2005,C/0.7995;Gene=PRPF40A/NM_017892.3/1;CC=c.2569-49C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:8:0:0:29:978:111.59:16.06:95.53:1.00:1.00:1.00:60:57.5:0:0:94:55:29:NM_017892.3(PRPF40A) c.2569-49C>G,NM_017892.3(PRPF40A) c.2569-49C>G:0.79,0.79:0.819922,0.819922 2 153514610 rs12999331 T C 41 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8868,C/0.1132;Gene=PRPF40A/NM_017892.3/1;CC=c.2569-76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:5:0:0:12,12:422,374:40.74,0.00:1.29,0.00:39.45,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:69.8,51.8:0,0:0,0:97,115:52,34:17,20:NM_017892.3(PRPF40A) c.2569-76A>G,-:0.1,-:NOT_FOUND,- 2 153514689 rs6746079 C T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3674,T/0.6326;Gene=PRPF40A/NM_017892.3/1;CC=c.2569-155G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:7:0:0:0:3,4:92,130:0.00,12.83:0.00,0.00:0.00,12.83:0.00,0.90:0.00,0.00:0.00,0.90:60,60:39.0,57.8:0,0:0,0:88,123:63,24:28,19:-,NM_017892.3(PRPF40A) c.2569-155G>A:-,0.65:-,NOT_FOUND 2 153515524 . C . . NT END=153515606;NT GT ./. 2 153515704 . C . . NT END=153515783;NT GT ./. 2 153515871 . C . . NT END=153519116;NT GT ./. 2 153519213 . C . . NT END=153519548;NT GT ./. 2 153519524 rs1036526 A G 77 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.2342,G/0.7658;Gene=PRPF40A/NM_017892.3/1;CC=c.2226+25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G,T:24:21:0:0:23,1:669,10:77.28,0.32:56.56,0.32:20.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,117.0:0,0:0,0:46,125:103,25:27,0:NM_017892.3(PRPF40A) c.2226+25T>C,NM_017892.3(PRPF40A) c.2226+25T>C:0.76,0.76:0.787752,0.787752 2 153519687 . C . . NT END=153520168;NT GT ./. 2 153520286 . C . . NT END=153520389;NT GT ./. 2 153520494 . C . . NT END=153520651;NT GT ./. 2 153520767 . C . . NT END=153525650;NT GT ./. 2 153520782 rs3762507 A G 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.234,G/0.766;Gene=PRPF40A/NM_017892.3/1;CC=c.1765-16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:6:0:0:17:562:64.31:14.31:50.00:1.00:1.00:1.00:60:66.9:0:0:107:44:25:NM_017892.3(PRPF40A) c.1765-16T>C,NM_017892.3(PRPF40A) c.1765-16T>C:0.76,0.76:0.789864,0.789864 2 153520819 rs3762506 C A 44 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1661,A/0.8339;Gene=PRPF40A/NM_017892.3/1;CC=c.1765-53G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:1:0:0:11:384:43.65:1.94:41.71:1.00:1.00:1.00:60:65.5:0:0:90:58:34:NM_017892.3(PRPF40A) c.1765-53G>T,NM_017892.3(PRPF40A) c.1765-53G>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 153525785 . C . . NT END=153526744;NT GT ./. 2 153525971 rs6727279 A C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3648,C/0.6352;PC=0.004;Gene=PRPF40A/NM_017892.3/1;CC=c.1631-187T>G;VC=Intron;DM=PRPF40A/FF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,C:7:0:0:0:2,5:70,100:0.00,10.42:0.00,0.00:0.00,10.42:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,37.0:0,0:0,0:115,91:35,60:14,19:-,NM_017892.3(PRPF40A) c.1631-187T>G:-,0.65:-,NOT_FOUND 2 153526896 . C . . NT END=153527786;NT GT ./. 2 153527017 rs2118377 C T 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1665,T/0.8335;PC=0.009;Gene=PRPF40A/NM_017892.3/1;CC=c.1480-122G>A;VC=Intron;DM=PRPF40A/FF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:245:28.31:0.00:28.31:1.00:0.00:1.00:60:33.4:0:0:105:46:33:NM_017892.3(PRPF40A) c.1480-122G>A,NM_017892.3(PRPF40A) c.1480-122G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 153527896 . C . . NT END=153528972;NT GT ./. 2 153529138 . C . . NT END=153529491;NT GT ./. 2 153529361 rs2304559 T C 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.2332,C/0.7668;Gene=PRPF40A/NM_017892.3/1;CC=c.1205+131A>G;VC=Intron;DM=PRPF40A/FF;DM=PRPF40A/FF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:9:0:0:16:504:57.97:32.86:25.11:1.00:1.00:1.00:60:41.7:0:0:78:72:34:NM_017892.3(PRPF40A) c.1205+131A>G,NM_017892.3(PRPF40A) c.1205+131A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 153529557 . C . . NT END=153530111;NT GT ./. 2 153530221 . C . . NT END=153532918;NT GT ./. 2 153533294 . C . . NT END=153533964;NT GT ./. 2 153533990 . C . . NT END=153535569;NT GT ./. 2 153534139 rs1437676 G A 30 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.003395,A/0.9966;NP=901;Gene=PRPF40A/NM_017892.3/1;CC=c.632-150C>T;VC=Intron;DM=PRPF40A/WW;DM=PRPF40A/WW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:264:30.22:0.00:30.22:1.00:0.00:1.00:60:35.9:0:0:98:53:34:NM_017892.3(PRPF40A) c.632-150C>T,NM_017892.3(PRPF40A) c.632-150C>T:1,1:NOT_FOUND,NOT_FOUND 2 153535624 . C . . NT END=153535865;NT GT ./. 2 153535670 rs10166987 C T 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.001398,T/0.9986;NP=1744;PC=1.000;Gene=PRPF40A/NM_017892.3/1;CC=c.578-47G>A;VC=Intron;DM=PRPF40A/WW;DM=PRPF40A/WW;DM=PRPF40A/WW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:13:0:0:20:648:74.34:44.97:29.36:1.00:1.00:1.00:60:40.6:0:0:83:67:36:NM_017892.3(PRPF40A) c.578-47G>A,NM_017892.3(PRPF40A) c.578-47G>A:1,1:0.998774,0.998774 2 153535987 . C . . NT END=153537739;NT GT ./. 2 153536173 rs6746321 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2334,G/0.7666;Gene=PRPF40A/NM_017892.3/1;CC=c.457-187T>C;VC=Intron;DM=PRPF40A/WW;DM=PRPF40A/WW;DM=PRPF40A/WW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:202:23.06:0.00:23.06:1.00:0.00:1.00:60:33.7:0:0:122:28:8:NM_017892.3(PRPF40A) c.457-187T>C,NM_017892.3(PRPF40A) c.457-187T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 153537851 . C . . NT END=153547475;NT GT ./. 2 153547493 . C . . NT END=153549551;NT GT ./. 2 153549583 . C . . NT END=153551055;NT GT ./. 2 153551137 . C . . NT END=153572508;NT GT ./. 2 153572438 rs2346548 C T 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.003395,T/0.9966;NP=3436;Gene=PRPF40A/NM_017892.3/1;CC=c.216+71G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:13:0:0:15:457:52.81:43.21:9.59:1.00:1.00:1.00:60:47.6:0:0:77:74:34:NM_017892.3(PRPF40A) c.216+71G>A,NM_017892.3(PRPF40A) c.216+71G>A:1,1:NOT_FOUND,NOT_FOUND 2 153572641 . C . . NT END=153573743;NT GT ./. 2 153572800 rs17400715 G C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9477,C/0.05232;Gene=PRPF40A/NM_017892.3/1;CC=c.85-160C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,G:9:0:0:0:6,3:190,96:19.37,0.00:0.00,0.00:19.37,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:31.7,0.0:0,0:0,0:88,57:61,93:52,54:NM_017892.3(PRPF40A) c.85-160C>G,-:0.07,-:NOT_FOUND,- 2 153573528 rs4664605 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3353,T/0.6647;PC=0.004;Gene=PRPF40A/NM_017892.3/1;CC=c.84+342G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:C,T:4:4:0:0:2,2:45,66:0.00,6.37:0.00,6.37:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:14.5,33.0:0,0:0,0:68,21:82,130:38,8:-,NM_017892.3(PRPF40A) c.84+342G>A:-,0.67:-,NOT_FOUND 2 153574145 . TG T 19 idl,rn VT=DEL;SST=Single;DP=84;NP=23;PC=1.000;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,TG,I,T:75:51:15:9:1,59,7,8:32,1694,476,282:1.46,0.00,17.06,19.29:-0.14,0.00,14.14,7.32:1.59,0.00,2.93,11.98:0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.97:60,60,60,60:98.0,34.1,117.7,15.5:1,0,8,1:0,0,0,0:126,101,57,69:11,42,91,45:0,29,19,18:-,NM_017892.3(PRPF40A) c.-22-u171delC:-,NOT_FOUND:-,NOT_FOUND 2 153574146 . G . . NT END=153574344;NT GT ./. 2 153574266 rs7598878 G A 109 nt VT=SNV;PN=C;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.8816,A/0.1184;PC=0.140 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:43:0:0:38,38:1135,1236:108.63,0.00:58.35,0.00:50.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.9,15.4:0,0:0,0:80,68:70,82:40,38:NM_017892.3(PRPF40A) c.-22-u291C>T,-:0.11,-:NOT_FOUND,- 2 153574398 . T . . NT END=153574506;NT GT ./. 2 153574607 . G . . NT END=153575138;NT GT ./. 2 153574642 rs3811566 G C 164 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=ARL6IP6/NM_152522.5/1;CC=c.-497G>C;VC=5UTR;Gene=ARL6IP6/NR_024526.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:C:44:20:0:0:44:1432:164.07:52.19:111.89:1.00:1.00:1.00:60:38.8:0:0:112:33:20:NM_152522.5(ARL6IP6) c.-497G>C,NM_152522.5(ARL6IP6) c.-497G>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 153575539 . G . . NT END=153577046;NT GT ./. 2 153577013 rs9646744 G A 84 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1971,A/0.8029;Gene=ARL6IP6/NM_152522.5/1;CC=c.401-34G>A;VC=Intron;Gene=ARL6IP6/NR_024526.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:21:0:0:23:732:84.16:61.60:22.56:1.00:1.00:1.00:60:44.9:0:0:51:94:29:NM_152522.5(ARL6IP6) c.401-34G>A,NM_152522.5(ARL6IP6) c.401-34G>A:0.79,0.79:0.822697,0.822697 2 153577101 . G . . NT END=153591507;NT GT ./. 2 153591378 rs10931263 C G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.885,G/0.115;Gene=ARL6IP6/NM_152522.5/1;CC=c.455-130C>G;VC=Intron;Gene=ARL6IP6/NR_024526.2/0;VC=NonCoding;DM=ARL6IP6/ARL6IP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:14:14:0:0:7,7:242,243:0.00,23.43:0.00,23.43:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,34.7:0,0:0,0:54,60:97,91:45,19:-,NM_152522.5(ARL6IP6) c.455-130C>G:-,0.1:-,NOT_FOUND 2 153591641 . G . . NT END=153616260;NT GT ./. 2 153616355 . A . . NT END=154334749;NT GT ./. 2 153707278 rs1834780 T C 44 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.02057,C/0.9794;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:5:0:0:12:385:44.22:13.87:30.35:1.00:1.00:1.00:60:32.1:0:0:108:42:10:chr2 g.153707277T>C (intergenic),chr2 g.153707277T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 153850078 rs1560963 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6312,C/0.3688;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:102,34:10.65,0.00:10.65,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:67.7,0.0:0,0:0,0:75,80:72,71:5,0:chr2 g.153850077T>C (intergenic),-:0.37,-:NOT_FOUND,- 2 153850150 rs1975239 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5954,A/0.4046 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,G:6:3:0:0:3,3:106,103:10.23,0.00:3.12,0.00:7.10,0.00:0.73,0.00:0.89,0.00:0.51,0.00:60,60:117.3,0.0:0,0:0,0:61,29:72,117:13,3:chr2 g.153850149G>A (intergenic),-:0.39,-:NOT_FOUND,- 2 153850152 rs1975240 G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6296,A/0.3704;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:6:3:0:0:3,3:102,103:9.83,0.00:3.28,0.00:6.55,0.00:0.73,0.00:0.89,0.00:0.96,0.00:60,60:117.3,0.0:0,0:0,0:63,31:70,115:13,3:chr2 g.153850151G>A (intergenic),-:0.36,-:NOT_FOUND,- 2 153850155 rs1975241 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6296,T/0.3704;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:6:3:0:0:3,3:104,99:0.00,9.52:0.00,3.17:0.00,6.35:0.00,0.73:0.00,0.89:0.00,0.96:60,60:0.0,117.3:0,0:0,0:34,66:112,67:3,13:-,chr2 g.153850154C>T (intergenic):-,0.36:-,NOT_FOUND 2 154158391 rs71396338 T TTG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=159;NP=3;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TTG:4:2:3:0:1,3:33,92:0.00,9.65:0.00,3.25:0.00,6.40:0.00,0.85:0.00,0.95:0.00,0.99:60,60:0.0,55.0:0,0:0,0:138,88:13,62:0,7:-,chr2 g.154158391_154158392insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 154335080 . C . . NT END=154801010;NT GT ./. 2 154512830 rs67276415 A AGTGT 8 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=34;NP=91;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,AGTGT:7:7:4:0:4,3:135,106:0.00,8.44:0.00,7.12:0.00,1.32:0.00,0.67:0.00,0.95:0.00,0.85:60,60:0.0,11.0:0,1:0,0:112,73:24,77:1,28:-,chr2 g.154512830_154512831insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 154512950 rs16834011 G T 10 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7065,T/0.2935 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:G,T:4:0:0:0:1,3:28,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,36.0:0,0:0,0:3,134:148,3:0,2:-,chr2 g.154512949G>T (intergenic):-,0.31:-,NOT_FOUND 2 154545453 rs12995533 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7959,T/0.2041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:6:5:0:0:2,4:65,133:0.00,13.55:0.00,10.45:0.00,3.10:0.00,0.93:0.00,0.99:0.00,0.78:60,60:4.5,43.0:0,0:0,0:35,40:116,110:26,31:-,chr2 g.154545452C>T (intergenic):-,0.22:-,NOT_FOUND 2 154800874 rs4318348 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.9002,G/0.09984;Gene=GALNT13/NM_052917.3/1;CC=c.-104-33A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:12,6:332,207:0.00,18.60:0.00,18.60:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:21.1,38.2:0,0:0,0:37,37:113,112:21,14:-,NM_052917.2(GALNT13) c.-104-33A>G:-,0.11:-,NOT_FOUND 2 154801153 . G . . NT END=154996849;NT GT ./. 2 154876115 rs67316542 CCACA C 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.075;Gene=GALNT13/NM_052917.3/1;CC=c.142+75012_142+75015delCACA;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.142+75012_142+75015delCACA;VC=Intron;DM=GALNT13/Ricin_B_lectin;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:CCACA,C:4:4:0:3:2,2:46,100:0.00,6.32:0.00,4.85:0.00,1.48:0.00,0.46:0.00,0.87:0.00,0.70:60,60:37.5,65.5:0,1:0,0:37,66:91,85:16,21:-,NM_052917.2(GALNT13) c.142+74964_142+74967delCACA:-,NOT_FOUND:-,NOT_FOUND 2 154997019 . G . . NT END=155092558;NT GT ./. 2 155043882 rs376091576 AACAC A 9 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=15;PC=0.001;Gene=GALNT13/NM_052917.3/1;CC=c.311+46906_311+46909delCACA;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.311+46906_311+46909delCACA;VC=Intron;DM=GALNT13/Ricin_B_lectin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AACAC,A:4:3:0:3:1,3:33,90:0.00,9.45:0.00,8.23:0.00,1.22:0.00,0.85:0.00,0.99:0.00,0.95:60,60:11.0,10.0:0,0:0,0:107,50:42,94:0,25:-,NM_052917.2(GALNT13) c.311+46865_311+46868delACAC:-,NOT_FOUND:-,NOT_FOUND 2 155065137 rs72354135 CTGTG C 8 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.011;Gene=GALNT13/NM_052917.3/1;CC=c.312-33364_312-33361delGTGT;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.312-33364_312-33361delGTGT;VC=Intron;DM=GALNT13/Ricin_B_lectin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:CTGTG,C:7:7:0:6:4,3:140,184:0.00,7.74:0.00,6.48:0.00,1.27:0.00,0.62:0.00,0.89:0.00,0.86:60,60:0.0,50.0:0,3:0,0:128,53:23,95:12,20:-,NM_052917.2(GALNT13) c.312-33405_312-33402delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 155092694 . G . . NT END=155098542;NT GT ./. 2 155098710 . G . . NT END=155099210;NT GT ./. 2 155098872 rs17203291 G C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9487,C/0.05132;Gene=GALNT13/NM_052917.3/1;CC=c.478+163G>C;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.478+163G>C;VC=Intron;DM=GALNT13/Glycos_transf_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,G:7:1:0:0:5,2:177,69:18.27,0.00:3.73,0.00:14.54,0.00:0.98,0.00:0.81,0.00:1.00,0.00:60,60:35.4,0.0:0,0:0,0:97,128:54,22:13,8:NM_052917.2(GALNT13) c.478+163G>C,-:0.05,-:NOT_FOUND,- 2 155099090 rs10166119 G A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2099,A/0.7901;PC=0.001;Gene=GALNT13/NM_052917.3/1;CC=c.479-121G>A;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.479-121G>A;VC=Intron;DM=GALNT13/Glycos_transf_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:454:52.08:52.08:0.00:1.00:1.00:0.00:60:40.1:0:0:63:76:51:NM_052917.2(GALNT13) c.479-121G>A,NM_052917.2(GALNT13) c.479-121G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 2 155099419 . G . . NT END=155102324;NT GT ./. 2 155102496 . G . . NT END=155115533;NT GT ./. 2 155115652 . G . . NT END=155157921;NT GT ./. 2 155141065 rs539731892 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9463,C/0.05371;NP=64;PC=0.005;Gene=GALNT13/NM_052917.3/1;CC=c.976-16857T>C;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.976-16857T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:C,T:7:6:0:0:3,4:105,131:9.86,0.00:4.51,0.00:5.34,0.00:0.69,0.00:0.95,0.00:0.83,0.00:60,60:35.0,23.2:0,0:0,0:57,44:93,86:24,2:NM_052917.2(GALNT13) c.976-16857T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 155157725 rs10490531 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9744,G/0.02556;Gene=GALNT13/NM_052917.3/1;CC=c.976-197A>G;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.976-197A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:7:7:0:0:3,4:96,129:0.00,12.73:0.00,12.73:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:0.0,32.2:0,0:0,0:35,89:116,59:25,41:-,NM_052917.2(GALNT13) c.976-197A>G:-,0.03:-,NOT_FOUND 2 155158103 . G . . NT END=155252502;NT GT ./. 2 155252643 . G . . NT END=155265495;NT GT ./. 2 155252653 rs13026208 T C 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.8946,C/0.1054;PC=1.000;Gene=GALNT13/NM_052917.3/1;CC=c.1296+11T>C;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.1296+11T>C;VC=Intron;DM=GALNT13/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:9:0:0:14,15:422,466:40.13,0.00:11.08,0.00:29.05,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:57.2,7.0:0,0:0,0:88,114:45,34:31,21:NM_052917.2(GALNT13) c.1296+11T>C,-:0.11,-:0.110795,- 2 155265595 . G . . NT END=155294102;NT GT ./. 2 155265623 rs1405936 G A 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4006,A/0.5994;Gene=GALNT13/NM_052917.3/1;CC=c.1395+29G>A;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.1395+29G>A;VC=Intron;DM=GALNT13/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,G:14:4:0:0:10,4:315,137:32.61,0.00:3.19,0.00:29.42,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:33.8,0.0:0,0:0,0:119,82:31,69:13,34:NM_052917.2(GALNT13) c.1395+29G>A,-:0.63,-:0.576515,- 2 155294108 . c . . NT END=155295103;NT GT ./. 2 155294139 rs112388854 C T 73 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.9219,T/0.07808;PC=0.024;Gene=GALNT13/NM_052917.3/1;CC=c.1396-965C>T;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.1396-965C>T;VC=Intron;Gene=LOC100144595/NM_001256368.1/1;CC=c.273G>A;ProtCh=p.L91=;VC=Silent;DM=GALNT13/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:24:0:0:20,24:667,751:0.00,73.38:0.00,20.16:0.00,53.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,37.4:0,0:0,0:107,120:43,25:13,16:-,NM_001256368.1(LOC100144595) c.273G>A (p.(=)):-,0.09:-,NOT_FOUND 2 155294807 rs707066 A T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.005192,T/0.9948;Gene=GALNT13/NM_052917.3/1;CC=c.1396-297A>T;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.1396-297A>T;VC=Intron;Gene=LOC100144595/NM_001256368.1/1;CC=c.50-445T>A;VC=Intron;DM=GALNT13/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:153:17.68:17.68:0.00:1.00:1.00:0.00:60:44.0:0:0:23:128:7:NM_001256368.1(LOC100144595) c.50-445T>A,NM_001256368.1(LOC100144595) c.50-445T>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 155295239 . G . . NT END=155302319;NT GT ./. 2 155295380 rs697647 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.004992,C/0.995;NP=2421;Gene=GALNT13/NM_052917.3/1;CC=c.1530+142T>C;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.1530+142T>C;VC=Intron;Gene=LOC100144595/NM_001256368.1/1;CC=c.50-1018A>G;VC=Intron;DM=GALNT13/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:170:19.81:0.00:19.81:1.00:0.00:1.00:60:35.3:0:0:126:24:21:NM_001256368.1(LOC100144595) c.50-1018A>G,NM_001256368.1(LOC100144595) c.50-1018A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 155302369 . a . . NT END=155306922;NT GT ./. 2 155306752 rs707079 A T 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2859,T/0.7141;Gene=GALNT13/NM_052917.3/1;CC=c.1531-171A>T;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.*13-171A>T;VC=Intron;Gene=LOC100144595/NM_001256368.1/1;CC=c.-30+4298T>A;VC=Intron;DM=GALNT13/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,T:8:8:0:0:4,4:134,123:0.00,11.80:0.00,11.80:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:12.2,41.2:0,0:0,0:72,39:78,110:35,22:-,NM_052917.2(GALNT13) c.1531-171A>T:-,0.71:-,NOT_FOUND 2 155306885 rs697648 C T 116 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.01777,T/0.9822;Gene=GALNT13/NM_052917.3/1;CC=c.1531-38C>T;VC=Intron;Gene=GALNT13/NM_001301627.1/0;CC=c.*13-38C>T;VC=Intron;Gene=LOC100144595/NM_001256368.1/1;CC=c.-30+4165G>A;VC=Intron;DM=GALNT13/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:T:32:29:0:0:32:1010:116.15:92.44:23.71:1.00:1.00:1.00:60:34.8:0:0:42:105:28:NM_052917.2(GALNT13) c.1531-38C>T,NM_052917.2(GALNT13) c.1531-38C>T:0.98,0.98:0.975854,0.975854 2 155307064 . A . . NT END=155555287;NT GT ./. 2 155374529 rs12621999 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5074,T/0.4926;NP=131;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:1:0:0:1,3:36,99:0.00,10.35:0.00,-0.30:0.00,10.65:0.00,0.85:0.00,0.83:0.00,0.85:52,60:68.0,97.0:0,0:0,0:57,132:61,17:0,4:-,chr2 g.155374528C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 155374533 rs370401297 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5074,T/0.4926;NP=68;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:1:0:0:1,3:35,93:0.00,9.75:0.00,-0.30:0.00,10.05:0.00,0.85:0.00,0.83:0.00,0.85:52,60:68.0,97.0:0,0:0,0:61,136:57,13:0,4:-,chr2 g.155374532C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 155556104 . T . . NT END=155566114;NT GT ./. 2 155566363 . T . . NT END=155711238;NT GT ./. 2 155583462 rs3111012 T G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.05571,G/0.9443;PC=0.001;Gene=KCNJ3/NM_001260508.1/0;CC=c.702+27473T>G;VC=Intron;Gene=KCNJ3/NM_002239.3/1;CC=c.919+17131T>G;VC=Intron;DM=KCNJ3/IRK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:171:19.48:2.04:17.45:1.00:1.00:1.00:60:47.2:0:0:108:43:29:NM_002239.3(KCNJ3) c.919+17131T>G,NM_002239.3(KCNJ3) c.919+17131T>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 155591581 . CTG C 6 rn VT=DEL;SST=Single;DP=5;PC=0.002;Gene=KCNJ3/NM_001260508.1/0;CC=c.702+35624_702+35625delGT;VC=Intron;Gene=KCNJ3/NM_002239.3/1;CC=c.919+25282_919+25283delGT;VC=Intron;DM=KCNJ3/IRK;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:CTG,I,C:5:3:1:2:2,1,2:64,34,67:0.00,2.98,6.41:0.00,-0.10,3.21:0.00,3.08,3.21:0.00,0.00,0.46:0.00,0.00,0.80:0.00,0.00,0.87:60,60,60:37.5,0.0,6.5:0,0,0:0,0,0:76,99,58:67,52,93:46,0,43:-,NM_002239.3(KCNJ3) c.919+25251_919+25252delTG:-,NOT_FOUND:-,NOT_FOUND 2 155711826 . C . . NT END=157182255;NT GT ./. 2 155949732 rs4664165 A G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2604,G/0.7396 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:117:13.61:0.00:13.61:1.00:0.00:1.00:60:29.2:0:0:67:82:66:chr2 g.155949731A>G (intergenic),chr2 g.155949731A>G (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 2 156340344 rs145051677 T A 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.9846,A/0.01538;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:30:16:0:0:13,17:392,558:36.45,0.00:9.87,0.00:26.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.7,0.3:0,0:0,0:115,108:36,33:24,26:chr2 g.156340343T>A (intergenic),-:0.02,-:NOT_FOUND,- 2 156763373 rs200761713 T TACACAC 10 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=12;NP=120;NP=16;NP=17;NP=2;NP=2;NP=3;NP=3;NP=4;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TACACAC:4:4:3:0:1,3:34,99:0.00,10.35:0.00,8.78:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:7.0,8.0:0,0:0,0:84,50:32,100:0,15:-,chr2 g.156763373_156763374insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 157182513 . C . . NT END=157182661;NT GT ./. 2 157182841 . C . . NT END=157183229;NT GT ./. 2 157183211 rs398080746 TC T 156 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=TC/0.2969,T/0.7031;DB;DBA=NA;PAF=TC/0.2969,T/0.7031;DB;DBA=NA;PAF=TC/0.2969,T/0.7031;NP=3154;Gene=NR4A2/NM_006186.3/1;CC=c.1361+18delG;VC=Intron;DM=NR4A2/Hormone_recep;DM=NR4A2/Hormone_recep;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:TC,T:47:42:0:44:3,44:58,1392:0.00,155.50:0.00,122.82:0.00,32.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.3,10.2:1,0:0,0:144,43:3,103:6,25:NM_006186.3(NR4A2) c.1361+18delG,NM_006186.3(NR4A2) c.1361+18delG:0.71,0.71:0.822604,0.822604 2 157183433 . C . . NT END=157184362;NT GT ./. 2 157183635 rs834834 C T 46 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5385,T/0.4615;PC=0.997;Gene=NR4A2/NM_006186.3/1;CC=c.1159-203G>A;VC=Intron;DM=NR4A2/Hormone_recep;DM=NR4A2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:396:45.75:0.00:45.75:1.00:0.00:1.00:60:38.5:0:0:108:42:30:NM_006186.3(NR4A2) c.1159-203G>A,NM_006186.3(NR4A2) c.1159-203G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 2 157184527 . C . . NT END=157184915;NT GT ./. 2 157185046 . C . . NT END=157185834;NT GT ./. 2 157186701 . C . . NT END=157187179;NT GT ./. 2 157187304 . C . . NT END=157188991;NT GT ./. 2 157189011 rs834836 G C 365 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.01198,C/0.988;PC=1.000;Gene=NR4A2/NM_006186.3/1;CC=c.-146C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:71:0:0:96:3190:364.71:203.90:160.81:1.00:1.00:1.00:60:40.8:0:0:67:80:34:NM_006186.3(NR4A2) c.=,NM_006186.3(NR4A2) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 2 157189023 . T . . NT END=157332617;NT GT ./. 2 157308278 rs7606799 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.09285,G/0.9071;Gene=GPD2/NM_001083112.2/1;CC=c.-9+15962A>G;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.-9+15253A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:130:14.91:5.57:9.34:1.00:1.00:1.00:60:55.2:0:0:90:60:33:NM_001083112.2(GPD2) c.-9+15962A>G,NM_001083112.2(GPD2) c.-9+15962A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 157332720 . G . . NT END=157352555;NT GT ./. 2 157350470 rs71402357 G GTGTGTA 12 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3708,A/0.6292;DB;DBA=NA;PAF=NA;NP=278;NP=4;NP=40;NP=52;Gene=GPD2/NM_001083112.2/1;CC=c.103-2085_103-2084insGTGTAT;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.103-2085_103-2084insGTGTAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:G,GTGTGTA:7:7:6:0:3,4:97,183:0.00,12.33:0.00,6.19:0.00,6.14:0.00,0.85:0.00,0.97:0.00,0.96:60,70:6.7,31.0:0,2:0,0:145,66:3,36:3,30:-,NM_001083112.2(GPD2) c.103-2086_103-2085insTGTGTA:-,NOT_FOUND:-,NOT_FOUND 2 157352728 . G . . NT END=157367307;NT GT ./. 2 157352734 rs55843224 CT C 12 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=64;PC=0.413;Gene=GPD2/NM_001083112.2/1;CC=c.274+19delT;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.274+19delT;VC=Intron;DM=GPD2/DAO;DM=GPD2/DAO;DM=GPD2/DAO;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CT,G,I,C:42:17:3:7:33,1,3,5:1063,10,100,223:0.00,-0.13,6.92,12.14:0.00,-0.10,-0.29,2.38:0.00,-0.03,7.21,9.76:0.00,0.00,0.00,0.75:0.00,0.00,0.00,0.78:0.00,0.00,0.00,0.97:60,60,60,60:15.4,114.0,0.0,9.6:0,0,0,2:0,0,0,0:98,130,81,118:50,-23,70,32:25,0,16,7:-,NM_001083112.2(GPD2) c.274+8delT:-,NOT_FOUND:-,NOT_FOUND 2 157367433 . G . . NT END=157368731;NT GT ./. 2 157368830 . G . . NT END=157369844;NT GT ./. 2 157370009 . G . . NT END=157406119;NT GT ./. 2 157370018 rs75284405 G GT 13 rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=2;Gene=GPD2/NM_001083112.2/1;CC=c.661+24dupT;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.661+24dupT;VC=Intron;DM=GPD2/DAO;DM=GPD2/DAO;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:G,GT,D:39:20:5:3:32,5,2:1084,165,95:0.00,12.52,3.84:0.00,3.80,1.85:0.00,8.71,2.00:0.00,0.76,0.00:0.00,0.86,0.00:0.00,0.96,0.00:60,70,60:21.4,4.0,0.0:0,0,1:0,0,0:94,93,56:57,42,95:18,28,10:-,NM_001083112.2(GPD2) c.661+10_661+11insT:-,NOT_FOUND:-,NOT_FOUND 2 157406249 rs2116665 G A 164 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.3421,A/0.6579;PC=0.930;Gene=GPD2/NM_001083112.2/1;CC=c.791G>A;ProtCh=p.R264H;VC=Missense;Gene=GPD2/NM_000408.4/0;CC=c.791G>A;ProtCh=p.R264H;VC=Missense;DM=GPD2/DAO;DM=GPD2/DAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:102:60:0:0:53,49:1691,1625:163.61,0.00:84.84,0.00:78.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.5,11.2:0,0:0,0:75,89:68,56:33,26:NM_001083112.2(GPD2) c.791G>A (p.Arg264His),-:0.66,-:0.630094,- 2 157406285 . G . . NT END=157407113;NT GT ./. 2 157406296 rs2116664 A C 143 nt VT=SNV;PN=T;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.2748,C/0.7252;Gene=GPD2/NM_001083112.2/1;CC=c.826+12A>C;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.826+12A>C;VC=Intron;DM=GPD2/DAO;DM=GPD2/DAO GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:75:41:0:0:32,43:1028,1449:0.00,143.18:0.00,61.56:0.00,81.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.3,70.4:0,0:0,0:119,105:31,35:22,22:-,NM_001083112.2(GPD2) c.826+12A>C:-,0.72:-,0.711672 2 157407259 . G . . NT END=157413900;NT GT ./. 2 157414095 . G . . NT END=157425336;NT GT ./. 2 157425472 . G . . NT END=157425874;NT GT ./. 2 157425502 rs562966174 C CT 19 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.2995,T/0.259;DB;DBA=NA;PAF=C/0.2995,CT/0.07488;DB;DBA=NA;PAF=C/0.2995,CT/0.07488;DB;DBA=NA;PAF=C/0.2995,CT/0.07488,CTT/0.000599,CTTTTT/.;PC=0.234;Gene=GPD2/NM_001083112.2/1;CC=c.1300+47_1300+48insT;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.1300+47_1300+48insT;VC=Intron;DM=GPD2/DAO;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,CT,D:34:17:8:5:24,7,3:798,263,156:0.00,19.19,6.88:0.00,5.43,2.47:0.00,13.76,4.40:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.99,0.00:60,60,60:14.1,20.6,14.0:0,1,2:0,0,0:118,116,77:24,34,74:18,11,34:-,NM_001083112.2(GPD2) c.1300+31_1300+32insT:-,NOT_FOUND:-,NOT_FOUND 2 157426051 . G . . NT END=157426598;NT GT ./. 2 157426731 . G . . NT END=157427645;NT GT ./. 2 157427593 rs1469652 T C 142 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.01797,C/0.982;Gene=GPD2/NM_001083112.2/1;CC=c.1609-53T>C;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.1609-53T>C;VC=Intron;DM=GPD2/DAO_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:C,T:43:39:0:0:41,2:1256,25:141.87,0.00:111.40,0.00:30.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,118.5:0,0:0,0:46,102:101,31:28,27:NM_001083112.2(GPD2) c.1609-53T>C,NM_001083112.2(GPD2) c.1609-53T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 157427805 . G . . NT END=157435400;NT GT ./. 2 157427837 rs1469651 C A 113 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.3117,A/0.6883,G/.,T/.;Gene=GPD2/NM_001083112.2/1;CC=c.1767+33C>A;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.1767+33C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:59:21:0:0:35,23,1:1135,765,7:113.23,0.00,-0.10:17.94,0.00,0.03:95.29,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:64.7,4.3,18.0:0,0,0:0,0,0:95,107,126:54,43,24:21,24,0:NM_001083112.2(GPD2) c.1767+33C>A,-:0.69,-:0.663386,- 2 157427850 rs1469650 G A 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.3117,A/0.6883;Gene=GPD2/NM_001083112.2/1;CC=c.1767+46G>A;VC=Intron;Gene=GPD2/NM_000408.4/0;CC=c.1767+46G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:15:0:0:29,23:950,677:93.32,0.00:10.91,0.00:82.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.0,8.5:0,0:0,0:103,120:46,30:26,19:NM_001083112.2(GPD2) c.1767+46G>A,-:0.69,-:0.663386,- 2 157435514 . G . . NT END=157435597;NT GT ./. 2 157435677 . G . . NT END=157436201;NT GT ./. 2 157436301 . G . . NT END=157439304;NT GT ./. 2 157439431 . G . . NT END=158114594;NT GT ./. 2 157506992 rs57848934 AAC A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=27;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:AAC,A:6:6:0:5:3,3:82,131:0.00,9.30:0.00,2.75:0.00,6.55:0.00,0.69:0.00,0.95:0.00,0.89:60,60:78.7,8.7:0,1:0,0:89,64:39,86:45,30:-,chr2 g.157506993_157506994delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 157595206 rs70987057 AGTGT A 17 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=77;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:6:0:6:5:179:16.78:10.24:6.54:0.99:0.99:1.00:60:26.6:1:0:29:85:20:chr2 g.157595207_157595210delGTGT (intergenic),chr2 g.157595207_157595210delGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 157798215 rs70987780 A AACAC 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=98;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,AACAC:4:4:4:0:1,3:32,125:0.00,9.77:0.00,3.01:0.00,6.76:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,20.7:0,1:0,0:145,40:5,110:0,19:-,chr2 g.157798215_157798216insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 157935308 rs62177565 T TACACACAC 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7206,TACACAC/0.2794,TACACACAC/.,TACACACACAC/.,TGC/.;DB;DBA=NA;PAF=T/0.7206,TACACAC/0.2794,TACACACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=12;NP=2;NP=2;NP=3;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TACACACAC:2:2:4:0:2:125:7.05:3.53:3.53:0.51:0.79:0.51:60:47.5:2:0:62:81:21:chr2 g.157935308_157935309insACACACAC (intergenic),chr2 g.157935308_157935309insACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 158116049 . G . . NT END=158140793;NT GT ./. 2 158140961 . G . . NT END=158142526;NT GT ./. 2 158142647 . G . . NT END=158152174;NT GT ./. 2 158151296 rs70987790 CCACACACA C 9 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=201;Gene=GALNT5/NM_014568.1/1;CC=c.1742-847_1742-840delACACACAC;VC=Intron;DM=GALNT5/Glycos_transf_2;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CCACACACA,C:5:4:0:6:2,3:62,134:0.00,9.44:0.00,4.29:0.00,5.15:0.00,0.69:0.00,0.89:0.00,0.95:60,60:29.5,34.7:0,2:0,0:70,77:29,74:43,31:-,NM_014568.1(GALNT5) c.1742-878_1742-871delCACACACA:-,NOT_FOUND:-,NOT_FOUND 2 158152046 rs57727429 GA G 31 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=915;Gene=GALNT5/NM_014568.1/1;CC=c.1742-116delA;VC=Intron;DM=GALNT5/Glycos_transf_2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:GA,G:14:15:0:11:4,10:138,331:0.00,31.00:0.00,29.75:0.00,1.25:0.00,1.00:0.00,1.00:0.00,0.78:60,60:21.5,28.8:0,1:0,0:38,28:99,123:28,17:-,NM_014568.1(GALNT5) c.1742-128delA:-,NOT_FOUND:-,NOT_FOUND 2 158152311 . G . . NT END=158152905;NT GT ./. 2 158153026 . G . . NT END=158156059;NT GT ./. 2 158156178 . G . . NT END=158157187;NT GT ./. 2 158157361 rs3214040 C T 559 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=C/0.2011,T/0.7989;Gene=GALNT5/NM_014568.1/1;CC=c.2289C>T;ProtCh=p.H763=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:150:101:0:0:150:4878:559.14:273.54:285.60:1.00:1.00:1.00:60:38.9:0:0:78:67:32:NM_014568.1(GALNT5) c.2289C>T (p.(=)),NM_014568.1(GALNT5) c.2289C>T (p.(=)):0.8,0.8:0.821928,0.821928 2 158157512 . G . . NT END=158162260;NT GT ./. 2 158162342 . G . . NT END=158165078;NT GT ./. 2 158162475 rs3214039 C T 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2005,T/0.7995;Gene=GALNT5/NM_014568.1/1;CC=c.2520+134C>T;VC=Intron;DM=GALNT5/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:0:10:275:32.22:0.00:32.22:1.00:0.00:1.00:60:62.1:0:0:110:39:5:NM_014568.1(GALNT5) c.2520+134C>T,NM_014568.1(GALNT5) c.2520+134C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 2 158162521 rs3816595 T G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=GALNT5/NM_014568.1/1;CC=c.2520+180T>G;VC=Intron;DM=GALNT5/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:146:16.98:0.00:16.98:1.00:0.00:1.00:60:50.2:0:0:47:104:46:NM_014568.1(GALNT5) c.2520+180T>G,NM_014568.1(GALNT5) c.2520+180T>G:0.8,0.8:NOT_FOUND,NOT_FOUND 2 158164859 rs6437053 T C 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2206,C/0.7794;Gene=GALNT5/NM_014568.1/1;CC=c.2521-220T>C;VC=Intron;DM=GALNT5/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:179:20.73:20.73:0.00:1.00:1.00:0.00:60:70.3:0:0:17:134:10:NM_014568.1(GALNT5) c.2521-220T>C,NM_014568.1(GALNT5) c.2521-220T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 2 158164885 rs6437054 A G 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3139,G/0.6861;PC=0.026;Gene=GALNT5/NM_014568.1/1;CC=c.2521-194A>G;VC=Intron;DM=GALNT5/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:256:29.39:29.39:0.00:1.00:1.00:0.00:60:68.1:0:0:37:113:10:NM_014568.1(GALNT5) c.2521-194A>G,NM_014568.1(GALNT5) c.2521-194A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 158165004 rs6728956 C T 107 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.223,T/0.777;Gene=GALNT5/NM_014568.1/1;CC=c.2521-75C>T;VC=Intron;DM=GALNT5/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:29:0:0:30:929:107.15:88.17:18.98:1.00:1.00:1.00:60:38.7:0:0:44:101:32:NM_014568.1(GALNT5) c.2521-75C>T,NM_014568.1(GALNT5) c.2521-75C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 2 158165241 . G . . NT END=158167719;NT GT ./. 2 158165401 rs2305965 A G 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2069,G/0.7931;Gene=GALNT5/NM_014568.1/1;CC=c.2682+161A>G;VC=Intron;DM=GALNT5/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:403:46.46:0.00:46.46:1.00:0.00:1.00:60:36.0:0:0:115:35:24:NM_014568.1(GALNT5) c.2682+161A>G,NM_014568.1(GALNT5) c.2682+161A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 158165415 rs397769336 C CT 24 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2792,CT/0.7208;DB;DBA=NA;PAF=C/0.2792,CT/0.7208;NP=434;Gene=GALNT5/NM_014568.1/1;CC=c.2682+185_2682+186insT;VC=Intron;DM=GALNT5/Ricin_B_lectin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,CT:10:0:7:0:3,7:91,232:0.00,23.89:0.00,0.00:0.00,23.89:0.00,1.00:0.00,0.00:0.00,1.00:60,60:48.3,32.0:0,0:0,0:137,93:11,57:8,17:-,NM_014568.1(GALNT5) c.2682+175_2682+176insT:-,NOT_FOUND:-,NOT_FOUND 2 158167861 . A . . NT END=158177782;NT GT ./. 2 158178304 . C . . NT END=158181181;NT GT ./. 2 158181275 . C . . NT END=158181913;NT GT ./. 2 158182417 . T . . NT END=158272188;NT GT ./. 2 158272656 . C . . NT END=158275034;NT GT ./. 2 158275102 . C . . NT END=158283862;NT GT ./. 2 158275111 rs5835667 T TA 45 idl,rn VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.058;Gene=CYTIP/NM_004288.4/1;CC=c.547-11_547-10insT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:42:28:18:7:19,16,7:551,550,230:0.00,45.19,19.33:0.00,19.38,6.85:0.00,25.81,12.48:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.9,21.7,3.1:0,2,0:0,0,0:110,63,98:35,63,26:21,22,31:-,NM_004288.4(CYTIP) c.547-11_547-10insT:-,NOT_FOUND:-,NOT_FOUND 2 158283710 rs155614 A G 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.862;Gene=CYTIP/NM_004288.4/1;CC=c.546+153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:339:38.67:38.67:0.00:1.00:1.00:0.00:60:35.8:0:0:79:71:52:NM_004288.4(CYTIP) c.546+153T>C,NM_004288.4(CYTIP) c.546+153T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 158283933 . C . . NT END=158287070;NT GT ./. 2 158284056 rs155613 C T 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.09924,A/.,T/0.9008;Gene=CYTIP/NM_004288.4/1;CC=c.477-124G>A;VC=Intron;DM=CYTIP/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:251:29.33:0.00:29.33:1.00:0.00:1.00:60:51.3:0:0:111:40:22:NM_004288.4(CYTIP) c.477-124G>A,NM_004288.4(CYTIP) c.477-124G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 158287165 . C . . NT END=158287371;NT GT ./. 2 158287475 . C . . NT END=158290881;NT GT ./. 2 158290937 . C . . NT END=158291209;NT GT ./. 2 158291107 rs70987792 T TAGAG 14 idl,nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1;NP=777;PC=0.003;Gene=CYTIP/NM_004288.4/1;CC=c.224+102_224+103insCTCT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:G,T,TAGAG:18:12:9:0:1,12,5:11,327,293:0.16,0.00,14.44:0.31,0.00,8.90:-0.15,0.00,5.54:0.00,0.00,0.84:0.00,0.00,0.92:0.00,0.00,0.90:60,60,60:21.0,28.7,49.8:0,1,4:0,0,0:121,78,25:23,73,126:0,35,9:-,NM_004288.4(CYTIP) c.224+102_224+103insCTCT:-,NOT_FOUND:-,NOT_FOUND 2 158291188 rs11904180 A C 138 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.1839,C/0.8161;Gene=CYTIP/NM_004288.4/1;CC=c.224+22T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:26:0:0:37:1202:137.76:73.84:63.92:1.00:1.00:1.00:60:42.9:0:0:50:101:28:NM_004288.4(CYTIP) c.224+22T>G,NM_004288.4(CYTIP) c.224+22T>G:0.82,0.82:0.832205,0.832205 2 158291260 . C . . NT END=158300358;NT GT ./. 2 158291361 rs10536561 T A 14 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1252,A/0.8748;NP=454;PC=0.001;Gene=CYTIP/NM_004288.4/1;CC=c.175-102A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,T:9:1:0:4:5,4:146,129:14.30,0.00:3.42,0.00:10.88,0.00:0.96,0.00:0.70,0.00:1.00,0.00:60,60:43.8,26.2:0,0:0,0:140,66:10,77:6,20:NM_004288.4(CYTIP) c.175-102A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 158300533 . T . . NT END=158390429;NT GT ./. 2 158310583 rs267990 A T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1166,T/0.8834 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:128:14.71:10.88:3.83:1.00:1.00:1.00:60:79.2:0:0:12:122:4:chr2 g.158310582A>T (intergenic),chr2 g.158310582A>T (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 2 158390556 . C . . NT END=158395084;NT GT ./. 2 158390652 . CT C 19 idl,rn VT=DEL;SST=Single;DP=34;NP=3;PC=1.000;Gene=ACVR1C/NM_001111031.1/1;CC=c.1207-98delA;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.1117-98delA;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.886-98delA;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.1357-98delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:CT,T,I,C:30:12:1:11:21,1,1,7:660,13,34,336:0.00,0.15,2.07,18.74:0.00,-0.06,2.28,5.88:0.00,0.21,-0.20,12.86:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:60,60,60,70:17.3,54.0,0.0,15.0:0,0,0,4:0,0,0,0:126,92,106,114:24,23,44,30:16,0,0,19:-,NM_145259.2(ACVR1C) c.1357-98delA:-,NOT_FOUND:-,NOT_FOUND 2 158395079 rs7576514 C G 174 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.1554,A/.,G/0.8446;PC=0.292;Gene=ACVR1C/NM_001111031.1/1;CC=c.1206+6G>C;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.1116+6G>C;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.885+6G>C;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.1356+6G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:45:39:0:0:45:1522:173.66:112.07:61.59:1.00:1.00:1.00:60:37.4:0:0:61:81:27:NM_145259.2(ACVR1C) c.1356+6G>C,NM_145259.2(ACVR1C) c.1356+6G>C:0.88,0.88:0.8503,0.8503 2 158395216 . C . . NT END=158397601;NT GT ./. 2 158397727 . C . . NT END=158399217;NT GT ./. 2 158399038 rs75349715 G C 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9776,C/0.02236;Gene=ACVR1C/NM_001111031.1/1;CC=c.950+180C>G;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.860+180C>G;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.629+180C>G;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.1100+180C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:13:13:0:0:7,6:226,203:22.04,0.00:22.04,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:52.6,2.8:0,0:0,0:62,41:89,109:43,20:NM_145259.2(ACVR1C) c.1100+180C>G,-:0.03,-:NOT_FOUND,- 2 158399375 . C . . NT END=158400956;NT GT ./. 2 158399510 rs4254465 T A 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2786,A/0.7214;PC=0.031;Gene=ACVR1C/NM_001111031.1/1;CC=c.794-136A>T;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.704-136A>T;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.473-136A>T;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.944-136A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:A,T:15:0:0:0:14,1:434,10:48.66,0.00:0.00,0.00:48.66,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:57.9,184.0:0,0:0,0:107,116:43,35:29,0:NM_145259.2(ACVR1C) c.944-136A>T,NM_145259.2(ACVR1C) c.944-136A>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 158399514 rs4461222 G T 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2786,T/0.7214;Gene=ACVR1C/NM_001111031.1/1;CC=c.794-140C>A;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.704-140C>A;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.473-140C>A;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.944-140C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:393:45.45:0.00:45.45:1.00:0.00:1.00:60:71.9:0:0:109:41:21:NM_145259.2(ACVR1C) c.944-140C>A,NM_145259.2(ACVR1C) c.944-140C>A:0.75,0.75:NOT_FOUND,NOT_FOUND 2 158400806 rs10432555 C A 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2668,A/0.7332;Gene=ACVR1C/NM_001111031.1/1;CC=c.793+151G>T;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.703+151G>T;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.472+151G>T;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.943+151G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:295:33.79:33.79:0.00:1.00:1.00:0.00:60:55.8:0:0:38:112:16:NM_145259.2(ACVR1C) c.943+151G>T,NM_145259.2(ACVR1C) c.943+151G>T:0.76,0.76:NOT_FOUND,NOT_FOUND 2 158400908 rs6728987 C T 109 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2155,T/0.7845;Gene=ACVR1C/NM_001111031.1/1;CC=c.793+49G>A;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.703+49G>A;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.472+49G>A;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.943+49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:25:0:0:29:956:109.38:86.51:22.87:1.00:1.00:1.00:60:42.4:0:0:43:100:31:NM_145259.2(ACVR1C) c.943+49G>A,NM_145259.2(ACVR1C) c.943+49G>A:0.8,0.8:0.764878,0.764878 2 158401125 . C . . NT END=158406673;NT GT ./. 2 158401137 rs10432556 T C 117 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.274,C/0.726;PC=0.149;Gene=ACVR1C/NM_001111031.1/1;CC=c.626-13A>G;VC=Intron;Gene=ACVR1C/NM_001111032.1/0;CC=c.536-13A>G;VC=Intron;Gene=ACVR1C/NM_001111033.1/0;CC=c.305-13A>G;VC=Intron;Gene=ACVR1C/NM_145259.2/0;CC=c.776-13A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:C:34:16:0:0:34:1011:117.08:41.40:75.68:1.00:1.00:1.00:60:42.7:0:0:97:35:28:NM_145259.2(ACVR1C) c.776-13A>G,NM_145259.2(ACVR1C) c.776-13A>G:0.76,0.76:0.704752,0.704752 2 158406905 . C . . NT END=158412604;NT GT ./. 2 158412845 . C . . NT END=158443698;NT GT ./. 2 158443930 . C . . NT END=158453871;NT GT ./. 2 158454073 . C . . NT END=158485083;NT GT ./. 2 158485157 . C . . NT END=158594041;NT GT ./. 2 158594178 . C . . NT END=158594950;NT GT ./. 2 158595083 . C . . NT END=158617390;NT GT ./. 2 158617590 . C . . NT END=158622431;NT GT ./. 2 158622709 . C . . NT END=158626878;NT GT ./. 2 158626980 rs1146031 C T 352 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=C/0.08606,T/0.9139;PC=0.999;Gene=ACVR1/NM_001105.4/1;CC=c.690G>A;ProtCh=p.E230=;VC=Silent;Gene=ACVR1/NM_001111067.2/0;CC=c.690G>A;ProtCh=p.E230=;VC=Silent;DM=ACVR1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:96:62:0:0:96:3063:352.03:167.46:184.57:1.00:1.00:1.00:60:41.3:0:0:88:61:27:NM_001105.4(ACVR1) c.690G>A (p.(=)),NM_001105.4(ACVR1) c.690G>A (p.(=)):0.92,0.92:0.911502,0.911502 2 158627027 . C . . NT END=158630598;NT GT ./. 2 158630700 . C . . NT END=158634641;NT GT ./. 2 158634855 . C . . NT END=158636847;NT GT ./. 2 158635051 rs1146038 A G 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2019,G/0.7981;Gene=ACVR1/NM_001105.4/1;CC=c.332-197T>C;VC=Intron;Gene=ACVR1/NM_001111067.2/0;CC=c.332-197T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:0:0:0:16:407:48.22:0.00:48.22:1.00:0.00:1.00:60:44.6:0:0:101:49:25:NM_001105.4(ACVR1) c.332-197T>C,NM_001105.4(ACVR1) c.332-197T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 158636910 rs2227861 G A 578 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=G/0.349,A/0.651;Gene=ACVR1/NM_001105.4/1;CC=c.270C>T;ProtCh=p.A90=;VC=Silent;Gene=ACVR1/NM_001111067.2/0;CC=c.270C>T;ProtCh=p.A90=;VC=Silent;DM=ACVR1/Activin_recp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:150:106:0:0:150:5062:577.57:319.05:258.53:1.00:1.00:1.00:60:40.2:0:0:63:85:30:NM_001105.4(ACVR1) c.270C>T (p.(=)),NM_001105.4(ACVR1) c.270C>T (p.(=)):0.68,0.68:0.604721,0.604721 2 158637113 . C . . NT END=158655937;NT GT ./. 2 158637132 rs374791093 A AG 24 nt VT=INS;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.9768,AG/0.02316,AGG/.;NP=6;Gene=ACVR1/NM_001105.4/1;CC=c.68-21dupC;VC=Intron;Gene=ACVR1/NM_001111067.2/0;CC=c.68-21dupC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AG:65:22:11:0:53,1,11:1654,5,314:0.00,-0.31,23.91:0.00,-0.08,9.49:0.00,-0.24,14.41:0.00,0.00,0.99:0.00,0.00,0.95:0.00,0.00,1.00:60,60,60:46.7,63.0,29.5:4,1,0:0,0,0:88,70,81:58,71,44:30,0,30:-,NM_001105.4(ACVR1) c.68-21_68-20insC:-,NOT_FOUND:-,0.74528 2 158637137 rs1866885 A G 131 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.2851,G/0.7149,T/.;PC=0.061;Gene=ACVR1/NM_001105.4/1;CC=c.68-25T>C;VC=Intron;Gene=ACVR1/NM_001111067.2/0;CC=c.68-25T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:22:0:2:19,41:519,1273:0.00,130.66:0.00,35.29:0.00,95.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.7,49.7:14,0:0,0:77,92:56,57:34,23:-,NM_001105.4(ACVR1) c.68-25T>C:-,NOT_FOUND:-,0.587683 2 158655883 rs68110751 C CAA 73 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=43;NP=454;Gene=ACVR1/NM_001105.4/1;CC=c.67+54_67+55dupTT;VC=Intron;Gene=ACVR1/NM_001111067.2/0;CC=c.67+54_67+55dupTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:CAA:21:20:21:0:21:632:73.20:67.35:5.84:1.00:1.00:1.00:60:16.0:0:0:56:93:29:NM_001105.4(ACVR1) c.67+55_67+56insTT,NM_001105.4(ACVR1) c.67+55_67+56insTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 158656006 . T . . NT END=158851710;NT GT ./. 2 158818797 rs11686202 A G 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5593,G/0.4407;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:7:0:0:15:498:56.91:22.42:34.49:1.00:1.00:1.00:60:33.9:0:0:112:30:24:chr2 g.158818796A>G (intergenic),chr2 g.158818796A>G (intergenic):0.41,0.41:NOT_FOUND,NOT_FOUND 2 158851772 . G . . NT END=158958381;NT GT ./. 2 158914893 rs142905979 TCTCTCTCTCTC T 15 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=UPP2/NM_001135098.1/1;CC=c.147+42496_147+42506delCTCTCTCTCTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:6:0:6:4:203:14.60:9.15:5.45:0.93:0.93:0.97:70:51.8:2:0:36:86:21:NM_001135098.1(UPP2) c.147+42496_147+42506delCTCTCTCTCTC,NM_001135098.1(UPP2) c.147+42496_147+42506delCTCTCTCTCTC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 158914923 rs67369626 C T 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=8;Gene=UPP2/NM_001135098.1/1;CC=c.147+42525C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:5:0:0:7:244:27.74:15.81:11.93:1.00:1.00:1.00:67:45.7:1:0:41:94:19:NM_001135098.1(UPP2) c.147+42525C>T,NM_001135098.1(UPP2) c.147+42525C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 158931202 rs56277459 T TACACAC 8 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=13;NP=4;NP=9;PC=0.059;Gene=UPP2/NM_001135098.1/1;CC=c.148-27313_148-27312insCACACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TACACAC:5:5:4:0:2,3:67,111:0.00,7.59:0.00,3.12:0.00,4.46:0.00,0.73:0.00,0.96:0.00,0.51:60,60:0.0,29.7:0,1:0,0:105,56:28,94:26,13:-,NM_001135098.1(UPP2) c.148-27350_148-27349insACACAC:-,NOT_FOUND:-,NOT_FOUND 2 158958638 . G . . NT END=158962610;NT GT ./. 2 158962729 . G . . NT END=158971612;NT GT ./. 2 158971772 . G . . NT END=158974335;NT GT ./. 2 158974155 rs10176046 T G 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6631,G/0.3369;PC=0.732;Gene=UPP2/NM_001135098.1/1;CC=c.511-181T>G;VC=Intron;Gene=UPP2/NM_173355.3/0;CC=c.340-181T>G;VC=Intron;DM=UPP2/PNP_UDP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:G,T:12:12:0:0:5,7:146,192:13.45,0.00:13.45,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:29.2,26.4:0,0:0,0:26,75:125,75:9,65:NM_001135098.1(UPP2) c.511-181T>G,-:0.35,-:NOT_FOUND,- 2 158974451 . G . . NT END=158977920;NT GT ./. 2 158977794 rs2074955 A G 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7995,G/0.2005;PC=0.167;Gene=UPP2/NM_001135098.1/1;CC=c.626-127A>G;VC=Intron;Gene=UPP2/NM_173355.3/0;CC=c.455-127A>G;VC=Intron;DM=UPP2/PNP_UDP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:9,9:261,275:0.00,26.37:0.00,26.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:19.1,46.0:0,0:0,0:32,31:118,120:30,22:-,NM_001135098.1(UPP2) c.626-127A>G:-,0.2:-,NOT_FOUND 2 158978131 . G . . NT END=158980260;NT GT ./. 2 158978178 rs10804389 C G 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.6006,G/0.3994;PC=0.002;Gene=UPP2/NM_001135098.1/1;CC=c.835+48C>G;VC=Intron;Gene=UPP2/NM_173355.3/0;CC=c.664+48C>G;VC=Intron;DM=UPP2/PNP_UDP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:36:10:0:0:18,18:627,575:0.00,55.23:0.00,7.99:0.00,47.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,53.8:0,0:0,0:106,129:44,22:27,17:-,NM_001135098.1(UPP2) c.835+48C>G:-,0.41:-,0.541295 2 158980408 . G . . NT END=158984476;NT GT ./. 2 158980577 rs6437135 A T 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.608,T/0.392;Gene=UPP2/NM_001135098.1/1;CC=c.982+170A>T;VC=Intron;Gene=UPP2/NM_173355.3/0;CC=c.811+170A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:30:1:0:0:15,15:436,505:0.00,48.67:0.00,1.89:0.00,46.78:0.00,1.00:0.00,0.67:0.00,1.00:60,60:16.6,47.7:0,0:0,0:110,104:34,46:35,30:-,NM_001135098.1(UPP2) c.982+170A>T:-,0.39:-,NOT_FOUND 2 158980662 rs6437136 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.521,G/0.479;Gene=UPP2/NM_001135098.1/1;CC=c.982+255A>G;VC=Intron;Gene=UPP2/NM_173355.3/0;CC=c.811+255A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,G:8:0:0:0:3,5:106,161:0.00,16.19:0.00,0.00:0.00,16.19:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,80.0:0,0:0,0:98,135:52,15:7,15:-,NM_001135098.1(UPP2) c.982+255A>G:-,0.47:-,NOT_FOUND 2 158980689 rs6437137 T C 6 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6064,C/0.3936;PC=0.008;Gene=UPP2/NM_001135098.1/1;CC=c.982+282T>C;VC=Intron;Gene=UPP2/NM_173355.3/0;CC=c.811+282T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:0:0:0:2,3:69,96:6.39,0.00:0.00,0.00:6.39,0.00:0.46,0.00:0.00,0.00:0.46,0.00:60,60:101.5,0.0:0,0:0,0:129,125:21,25:4,7:NM_001135098.1(UPP2) c.982+282T>C,-:0.4,-:NOT_FOUND,- 2 158984548 . G . . NT END=158991259;NT GT ./. 2 158991403 . A . . NT END=159028624;NT GT ./. 2 159028772 . C . . NT END=159033032;NT GT ./. 2 159028800 rs2222390 A G 130 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.01378,G/0.9862;NP=3332;PC=0.002;Gene=CCDC148-AS1/NR_038850.1/0;VC=NonCoding;Gene=CCDC148/NM_001301684.1/0;CC=c.1192-29T>C;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.1630-29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:11:0:0:35:1134:130.02:27.89:102.13:1.00:1.00:1.00:60:36.1:0:0:106:41:27:NM_138803.3(CCDC148) c.1630-29T>C,NM_138803.3(CCDC148) c.1630-29T>C:0.99,0.99:0.985365,0.985365 2 159033174 . C . . NT END=159035390;NT GT ./. 2 159035509 . C . . NT END=159077106;NT GT ./. 2 159035618 . A AT 15 rn VT=INS;SST=Single;DP=25;NP=5;Gene=CCDC148-AS1/NR_038850.1/0;VC=NonCoding;Gene=CCDC148/NM_001301684.1/0;CC=c.933-111dupA;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.1371-111dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:A,AT,D:25:0:6:1:18,6,1:484,175,22:0.00,14.53,0.98:0.00,0.00,0.00:0.00,14.53,0.98:0.00,0.92,0.00:0.00,0.00,0.00:0.00,0.92,0.00:60,60,60:26.3,36.3,123.0:0,0,0:0,0,0:110,62,46:40,85,105:20,2,0:-,NM_138803.3(CCDC148) c.1371-111_1371-110insA:-,NOT_FOUND:-,NOT_FOUND 2 159077019 rs958671 A C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2853,C/0.7147;PC=0.001;Gene=CCDC148-AS1/NR_038850.1/0;VC=NonCoding;Gene=CCDC148/NM_001301684.1/0;CC=c.932+88T>G;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.1370+88T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,C:14:14:0:0:5,9:143,217:0.00,21.99:0.00,21.99:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,25.6:0,0:0,0:63,83:88,68:17,33:-,NM_138803.3(CCDC148) c.1370+88T>G:-,0.72:-,NOT_FOUND 2 159077226 . C . . NT END=159107283;NT GT ./. 2 159107425 . C . . NT END=159165944;NT GT ./. 2 159166069 rs7559772 T C 203 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.04413,C/0.9559;PC=0.970;Gene=CCDC148/NM_001301684.1/0;CC=c.548A>G;ProtCh=p.K183R;VC=Missense;Gene=CCDC148/NM_138803.3/1;CC=c.986A>G;ProtCh=p.K329R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C:53:30:0:0:53:1777:202.94:82.09:120.85:1.00:1.00:1.00:60:40.2:0:0:77:70:49:NM_138803.3(CCDC148) c.986A>G (p.Lys329Arg),NM_138803.3(CCDC148) c.986A>G (p.Lys329Arg):0.95,0.95:0.947024,0.947024 2 159166152 . C . . NT END=159170267;NT GT ./. 2 159166307 rs11677830 G T 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.75,T/0.25;Gene=CCDC148/NM_001301684.1/0;CC=c.466-156C>A;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.904-156C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,G,T:10:0:0:0:1,4,5:24,100,164:1.70,0.00,16.09:0.00,0.00,0.00:1.70,0.00,16.09:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:190.0,13.0,40.8:0,0,0:0,0,0:111,127,83:40,23,68:0,15,51:-,NM_138803.3(CCDC148) c.904-156C>A:-,0.29:-,NOT_FOUND 2 159167130 rs6712330 T C 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.04413,C/0.9559;PC=0.016;Gene=CCDC148/NM_001301684.1/0;CC=c.466-979A>G;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.904-979A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:268:31.08:25.62:5.46:1.00:1.00:1.00:60:85.6:0:0:47:80:20:NM_138803.3(CCDC148) c.904-979A>G,NM_138803.3(CCDC148) c.904-979A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 159167162 rs191570886 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8868,C/0.1132;PC=0.035;Gene=CCDC148/NM_001301684.1/0;CC=c.466-1011A>G;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.904-1011A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,T:12:11:0:0:6,6:143,166:13.51,0.00:13.03,0.00:0.48,0.00:0.98,0.00:1.00,0.00:0.51,0.00:60,60:104.0,47.8:0,0:0,0:86,32:48,100:13,27:NM_138803.3(CCDC148) c.904-1011A>G,-:0.15,-:NOT_FOUND,- 2 159167254 rs6709315 A G 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1508,G/0.8492;PC=0.094;Gene=CCDC148/NM_001301684.1/0;CC=c.466-1103T>C;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.904-1103T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C,G:10:5:0:0:1,9:11,237:0.64,27.51:0.00,13.02:0.64,14.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:109.0,76.8:0,0:0,0:42,90:109,61:0,7:NM_138803.3(CCDC148) c.904-1103T>C,NM_138803.3(CCDC148) c.904-1103T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 159170407 . C . . NT END=159195237;NT GT ./. 2 159195225 rs11686762 T G 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8882,G/0.1118;Gene=CCDC148/NM_001301684.1/0;CC=c.326+13A>C;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.764+13A>C;VC=Intron;Gene=CCDC148/NM_001301685.1/0;CC=c.*9A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:24:0:0:15,13:470,399:45.74,0.00:35.58,0.00:10.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,2.0:0,0:0,0:55,51:91,100:27,26:NM_138803.3(CCDC148) c.764+13A>C,-:0.15,-:0.180818,- 2 159195420 . C . . NT END=159195501;NT GT ./. 2 159195598 . C . . NT END=159196753;NT GT ./. 2 159196906 . C . . NT END=159197109;NT GT ./. 2 159197193 . C . . NT END=159201726;NT GT ./. 2 159197342 rs11898134 A G 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6867,G/0.3133;Gene=CCDC148/NM_001301684.1/0;CC=c.-35-150T>C;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.252-150T>C;VC=Intron;Gene=CCDC148/NM_001301685.1/0;CC=c.252-150T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,G:13:0:0:0:8,5:223,160:0.00,14.63:0.00,0.00:0.00,14.63:0.00,0.91:0.00,0.00:0.00,0.91:60,60:44.5,43.4:0,0:0,0:87,100:64,49:14,38:-,NM_138803.3(CCDC148) c.252-150T>C:-,0.34:-,NOT_FOUND 2 159201831 . C . . NT END=159214960;NT GT ./. 2 159215083 . C . . NT END=159222525;NT GT ./. 2 159222589 . C . . NT END=159312926;NT GT ./. 2 159312733 rs1111212 C T 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2067,T/0.7933;PC=0.001;Gene=CCDC148/NM_001301684.1/0;CC=c.-158+194G>A;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.25+194G>A;VC=Intron;Gene=CCDC148/NM_001301685.1/0;CC=c.25+194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:C,T:11:11:0:0:5,6:163,197:0.00,19.27:0.00,19.27:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:56.4,59.7:0,0:0,0:14,74:136,77:10,20:-,NM_138803.3(CCDC148) c.25+194G>A:-,0.76:-,NOT_FOUND 2 159312776 rs3796107 G T 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.8848,T/0.1152;Gene=CCDC148/NM_001301684.1/0;CC=c.-158+151C>A;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.25+151C>A;VC=Intron;Gene=CCDC148/NM_001301685.1/0;CC=c.25+151C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:18:0:0:9,9:272,297:0.00,28.59:0.00,28.59:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:44.4,67.2:0,0:0,0:49,37:102,114:39,19:-,NM_138803.3(CCDC148) c.25+151C>A:-,0.14:-,NOT_FOUND 2 159312777 rs3796106 A T 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8848,T/0.1152;Gene=CCDC148/NM_001301684.1/0;CC=c.-158+150T>A;VC=Intron;Gene=CCDC148/NM_138803.3/1;CC=c.25+150T>A;VC=Intron;Gene=CCDC148/NM_001301685.1/0;CC=c.25+150T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:18:18:0:0:9,9:233,296:0.00,28.50:0.00,28.50:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:44.4,67.2:0,0:0,0:50,38:101,113:39,19:-,NM_138803.3(CCDC148) c.25+150T>A:-,0.14:-,NOT_FOUND 2 159312984 . C . . NT END=159389696;NT GT ./. 2 159353302 rs76005848 G GTGTGTGTCTGTGTC 6 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;PC=0.037;Gene=PKP4/NM_001304971.1/0;CC=c.-5-36385_-5-36384insGTCTGTGTCTGTGT;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.-5-36385_-5-36384insGTCTGTGTCTGTGT;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.-5-36385_-5-36384insGTCTGTGTCTGTGT;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.-954-36385_-954-36384insGTCTGTGTCTGTGT;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.-5-36385_-5-36384insGTCTGTGTCTGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,G,GTGTGTGTCTGTGTC:5:4:3:0:1,2,2:12,69,102:0.76,0.00,6.45:0.80,0.00,-1.96:-0.04,0.00,8.41:0.00,0.00,0.42:0.00,0.00,0.81:0.00,0.00,0.81:60,60,60:56.0,49.5,18.5:0,0,1:0,0,0:50,30,98:81,118,45:0,15,8:-,NM_003628.3(PKP4) c.-5-36390_-5-36389insTGTGTGTCTGTGTC:-,NOT_FOUND:-,NOT_FOUND 2 159389829 . G . . NT END=159433782;NT GT ./. 2 159405230 rs3771601 A T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8868,T/0.1132;PC=1.000;Gene=PKP4/NM_001304971.1/0;CC=c.132+15402A>T;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.132+15402A>T;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.132+15402A>T;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.-818+15402A>T;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.132+15402A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T:4:3:0:0:2,2:65,68:0.00,6.55:0.00,5.06:0.00,1.49:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,34.0:0,0:0,0:36,37:114,114:3,3:-,NM_003628.3(PKP4) c.132+15402A>T:-,0.15:-,NOT_FOUND 2 159433896 . G . . NT END=159459581;NT GT ./. 2 159446818 rs2108215 G T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4213,T/0.5787;PC=0.011;Gene=PKP4/NM_001304971.1/0;CC=c.246-12764G>T;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.246-12764G>T;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.246-12764G>T;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.-704-12764G>T;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.246-12764G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,T:4:4:0:0:1,3:36,95:0.00,9.95:0.00,8.08:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:22.0,66.7:0,0:0,0:70,105:81,13:0,36:-,NM_003628.3(PKP4) c.246-12764G>T:-,0.52:-,NOT_FOUND 2 159459617 . G . . NT END=159477501;NT GT ./. 2 159477439 rs3835023 CTT C 83 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=CTT/0.9187,C/0.08127;DB;DBA=NA;PAF=CTT/0.9187,C/0.08127;NP=858;PC=0.998;Gene=PKP4/NM_001304971.1/0;CC=c.281-58_281-57delTT;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.281-58_281-57delTT;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.281-58_281-57delTT;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.-669-58_-669-57delTT;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.281-58_281-57delTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:35:29:0:26:9,26:297,797:0.00,83.43:0.00,63.21:0.00,20.22:0.00,1.00:0.00,1.00:0.00,1.00:60,70:2.6,10.2:0,0:0,0:53,48:96,99:37,22:-,NM_003628.3(PKP4) c.281-62_281-61delTT:-,NOT_FOUND:-,NOT_FOUND 2 159477634 . G . . NT END=159477742;NT GT ./. 2 159477934 . G . . NT END=159481389;NT GT ./. 2 159481940 . G . . NT END=159488264;NT GT ./. 2 159488454 . G . . NT END=159490581;NT GT ./. 2 159490456 rs917242 C A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4325,A/0.5675;Gene=PKP4/NM_001304971.1/0;CC=c.1343-126C>A;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.1343-126C>A;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.1343-129C>A;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.317-129C>A;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.1343-126C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,C:6:6:0:0:4,2:128,71:13.05,0.00:13.05,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:32.0,0.0:0,0:0,0:61,87:89,62:17,30:NM_003628.3(PKP4) c.1343-126C>A,-:0.53,-:NOT_FOUND,- 2 159490802 . G . . NT END=159497138;NT GT ./. 2 159491032 rs72942738 A T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.877,T/0.123;Gene=PKP4/NM_001304971.1/0;CC=c.1562+231A>T;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.1562+231A>T;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.1559+231A>T;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.533+231A>T;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.1562+231A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,T:6:0:0:0:3,3:96,102:0.00,9.83:0.00,0.00:0.00,9.83:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,45.0:0,0:0,0:122,77:29,74:0,35:-,NM_003628.3(PKP4) c.1562+231A>T:-,0.16:-,NOT_FOUND 2 159497272 . G . . NT END=159498997;NT GT ./. 2 159498850 rs2253652 A G 49 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3097,G/0.6903;PC=0.001;Gene=PKP4/NM_001304971.1/0;CC=c.1696-148A>G;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.1696-148A>G;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.1693-148A>G;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.667-148A>G;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.1696-148A>G;VC=Intron;DM=PKP4/Arm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:13:13:0:0:13:426:48.80:48.80:0.00:1.00:1.00:0.00:60:60.0:0:0:32:118:22:NM_003628.3(PKP4) c.1696-148A>G,NM_003628.3(PKP4) c.1696-148A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 159498940 rs2253537 A T 163 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.2149,T/0.7851;PC=0.015;Gene=PKP4/NM_001304971.1/0;CC=c.1696-58A>T;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.1696-58A>T;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.1693-58A>T;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.667-58A>T;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.1696-58A>T;VC=Intron;DM=PKP4/Arm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A,T:46:45:0:0:1,45:8,1430:0.00,162.87:0.00,138.53:0.00,24.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:68.0,43.2:0,0:0,0:114,41:37,107:0,31:NM_003628.3(PKP4) c.1696-58A>T,NM_003628.3(PKP4) c.1696-58A>T:0.79,0.79:NOT_FOUND,NOT_FOUND 2 159499212 . G . . NT END=159514642;NT GT ./. 2 159514827 . G . . NT END=159517844;NT GT ./. 2 159517963 . G . . NT END=159519408;NT GT ./. 2 159519368 rs3764835 G A 128 nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.9205,A/0.07947;Gene=PKP4/NM_001304971.1/0;CC=c.2212-41G>A;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.2212-41G>A;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.2209-41G>A;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.1183-41G>A;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.2212-41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:71:63:0:0:41,1,29:1294,12,967:128.28,0.03,0.00:98.06,0.08,0.00:30.22,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.9,20.0,14.2:0,0,0:0,0,0:51,88,67:95,62,83:28,0,36:NM_003628.3(PKP4) c.2212-41G>A,-:0.1,-:0.110334,- 2 159519601 . G . . NT END=159519783;NT GT ./. 2 159519958 . G . . NT END=159522924;NT GT ./. 2 159520085 rs3771679 G C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2045,C/0.7955;Gene=PKP4/NM_001304971.1/0;CC=c.2577+128G>C;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.2577+128G>C;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.2574+128G>C;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.1548+128G>C;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.2577+128G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,G:8:0:0:0:6,2:183,69:19.19,0.00:0.00,0.00:19.19,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.5,0.0:0,0:0,0:127,79:22,71:20,22:NM_003628.3(PKP4) c.2577+128G>C,-:0.76,-:NOT_FOUND,- 2 159522879 rs2248854 C G 104 nt VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.3093,G/0.6907;PC=0.003;Gene=PKP4/NM_001304971.1/0;CC=c.2578-46C>G;VC=Intron;Gene=PKP4/NM_001005476.2/0;CC=c.2578-46C>G;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.2575-46C>G;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.1549-46C>G;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.2578-46C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:65:57:0:0:31,34:1015,1071:0.00,103.75:0.00,82.53:0.00,21.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,44.5:0,0:0,0:56,58:90,91:39,33:-,NM_003628.3(PKP4) c.2578-46C>G:-,0.66:-,0.580501 2 159523076 . G . . NT END=159526231;NT GT ./. 2 159526428 . G . . NT END=159530188;NT GT ./. 2 159530274 . G . . NT END=159530394;NT GT ./. 2 159530513 . G . . NT END=159533250;NT GT ./. 2 159530651 rs2711034 A T 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.498,T/0.502;PC=0.281;Gene=PKP4/NM_001005476.2/0;CC=c.3127+139A>T;VC=Intron;Gene=PKP4/NM_001304969.1/0;CC=c.3124+139A>T;VC=Intron;Gene=PKP4/NM_001304970.1/0;CC=c.2098+139A>T;VC=Intron;Gene=PKP4/NM_003628.4/1;CC=c.3127+139A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,T:6:0:0:0:2,4:60,131:0.00,13.35:0.00,0.00:0.00,13.35:0.00,0.93:0.00,0.00:0.00,0.93:60,60:13.5,40.2:0,0:0,0:74,135:76,15:61,7:-,NM_003628.3(PKP4) c.3127+139A>T:-,0.47:-,NOT_FOUND 2 159533380 . G . . NT END=159535092;NT GT ./. 2 159535167 . G . . NT END=159536940;NT GT ./. 2 159537190 . C . . NT END=159651884;NT GT ./. 2 159556192 rs2528606 T C 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.2524,C/0.7476;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:3:0:0:11:391:44.35:6.12:38.23:1.00:1.00:1.00:60:55.5:0:0:95:53:21:chr2 g.159556191T>C (intergenic),chr2 g.159556191T>C (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 2 159560007 rs2528610 C T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1464,T/0.8536;PC=0.211 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:155:17.88:0.00:17.88:1.00:0.00:1.00:60:58.2:0:0:145:6:4:chr2 g.159560006C>T (intergenic),chr2 g.159560006C>T (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 2 159606676 rs199773492 AGTGTGT A 13 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=25;PC=0.076;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:5:0:6:4:175:12.80:6.65:6.15:0.93:0.99:0.97:60:32.2:2:0:50:94:6:chr2 g.159606677_159606682delGTGTGT (intergenic),chr2 g.159606677_159606682delGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 159651734 rs925781 A G 101 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.3181,G/0.6819;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:G:31:31:0:0:31:863:100.83:100.83:0.00:1.00:1.00:0.00:60:38.2:0:0:37:114:21:NM_001017920.2(DAPL1) c.-56-u95A>G,NM_001017920.2(DAPL1) c.-56-u95A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 159651943 . G . . NT END=159660793;NT GT ./. 2 159652231 rs2280184 G T 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3189,T/0.6811;PC=0.001;Gene=DAPL1/NM_001017920.2/1;CC=c.58+289G>T;VC=Intron;DM=DAPL1/DAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:38.8:0:0:125:25:19:NM_001017920.2(DAPL1) c.58+289G>T,NM_001017920.2(DAPL1) c.58+289G>T:0.7,0.7:NOT_FOUND,NOT_FOUND 2 159660645 rs11297084 TA T 34 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TA/0.1657,T/0.8343;NP=876;Gene=DAPL1/NM_001017920.2/1;CC=c.59-148delA;VC=Intron;DM=DAPL1/DAP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TA,T:12:12:0:11:1,11:26,300:0.00,33.72:0.00,33.72:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.0,12.2:0,0:0,0:143,29:7,122:0,19:NM_001017920.2(DAPL1) c.59-148delA,NM_001017920.2(DAPL1) c.59-148delA:0.85,0.85:NOT_FOUND,NOT_FOUND 2 159660882 . G . . NT END=159663566;NT GT ./. 2 159663359 rs72383189 AAAT A 11 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AAAT/0.2957,A/0.7043;DB;DBA=NA;PAF=AAAT/0.2957,A/0.7043;DB;DBA=NA;PAF=AAAT/0.2957,A/0.7043;DB;DBA=NA;PAF=AAAT/0.2957,A/0.7043;NP=63;PC=0.008;Gene=DAPL1/NM_001017920.2/1;CC=c.147-186_147-184delAAT;VC=Intron;DM=DAPL1/DAP;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AAAT,A:6:6:0:4:2,4:65,112:0.00,11.44:0.00,11.44:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:32.0,8.2:0,0:0,0:4,70:147,80:0,13:-,NM_001017920.2(DAPL1) c.147-207_147-205delAAT:-,0.71:-,NOT_FOUND 2 159663599 rs9869 T C 219 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.4095,C/0.5905;PC=0.998;Gene=DAPL1/NM_001017920.2/1;CC=c.179T>C;ProtCh=p.L60P;VC=Missense;DM=DAPL1/DAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:C,T:62:47:0:0:61,1:1921,11:219.38,0.00:116.17,0.00:103.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,12.0:0,0:0,0:79,118:70,32:29,0:NM_001017920.2(DAPL1) c.179T>C (p.Leu60Pro),NM_001017920.2(DAPL1) c.179T>C (p.Leu60Pro):0.58,0.58:0.473243,0.473243 2 159663628 . G . . NT END=159672216;NT GT ./. 2 159672168 rs1515922 G A 88 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.88,A/0.12;PC=0.006;Gene=DAPL1/NM_001017920.2/1;CC=c.208-49G>A;VC=Intron;DM=DAPL1/DAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:21:0:0:24:762:87.64:68.02:19.62:1.00:1.00:1.00:60:58.0:0:0:55:96:27:NM_001017920.2(DAPL1) c.208-49G>A,NM_001017920.2(DAPL1) c.208-49G>A:0.12,0.12:0.145087,0.145087 2 159672252 rs61740878 G A 135 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.8976,A/0.1024;PC=1.000;Gene=DAPL1/NM_001017920.2/1;CC=c.243G>A;ProtCh=p.A81=;VC=Silent;DM=DAPL1/DAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:29:0:0:38:1167:134.74:78.46:56.28:1.00:1.00:1.00:60:53.6:0:0:53:92:31:NM_001017920.2(DAPL1) c.243G>A (p.(=)),NM_001017920.2(DAPL1) c.243G>A (p.(=)):0.11,0.11:0.12748,0.12748 2 159672334 . G . . NT END=159916609;NT GT ./. 2 159672442 rs10016 G A 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5545,A/0.4455;PC=0.903;Gene=DAPL1/NM_001017920.2/1;CC=c.*109G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:0:0:0:14:412:47.84:0.00:47.84:1.00:0.00:1.00:60:39.0:0:0:104:47:23:NM_001017920.2(DAPL1) c.*109G>A,NM_001017920.2(DAPL1) c.*109G>A:0.48,0.48:NOT_FOUND,NOT_FOUND 2 159673073 rs72243874 CCACA C 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=17;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CCACA,C:4:5:0:5:1,3:33,128:0.00,10.07:0.00,6.81:0.00,3.26:0.00,0.78:0.00,0.78:0.00,0.94:27,60:0.0,3.3:0,1:0,0:16,25:38,97:0,7:-,chr2 g.159673074_159673077delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 159699201 rs373848955 TACAC T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:TACAC,T:5:6:0:5:2,3:68,129:0.00,9.43:0.00,9.73:0.00,-0.30:0.00,0.73:0.00,0.73:0.00,0.79:60,70:20.5,0.0:0,1:0,0:40,33:66,117:4,21:-,chr2 g.159699202_159699205delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 159710189 rs9750235 T A 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.7129,A/0.2871;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:49:45:0:0:26,23:852,793:82.89,0.00:52.52,0.00:30.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.5,9.9:0,0:0,0:54,66:91,83:27,31:chr2 g.159710188T>A (intergenic),-:0.27,-:NOT_FOUND,- 2 159710654 rs149652862 C G 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.861,G/0.139;PC=0.330 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:10:0:0:9,15:313,469:0.00,47.12:0.00,18.69:0.00,28.43:0.00,1.00:0.00,1.00:0.00,1.00:60,43:8.4,37.9:0,0:0,0:100,88:51,63:37,18:-,chr2 g.159710653C>G (intergenic):-,0.1:-,NOT_FOUND 2 159710837 rs376027150 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8399,G/0.1601;NP=348 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:56:32.2:0:0:111:39:16:chr2 g.159710836A>G (intergenic),chr2 g.159710836A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 159718996 rs10169584 C T 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.9708,T/0.02915 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:25:0:0:18,12:581,421:0.00,39.06:0.00,16.91:0.00,22.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,38.2:0,0:0,0:66,58:83,92:25,21:-,chr2 g.159718995C>T (intergenic):-,0.03:-,NOT_FOUND 2 159719127 rs145953089 T C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.9103,C/0.08966;PC=0.895 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:8:0:0:12,9:334,295:32.83,0.00:9.35,0.00:23.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,50:40.0,23.7:0,0:0,0:97,121:52,30:36,19:chr2 g.159719126T>C (intergenic),-:0.11,-:NOT_FOUND,- 2 159731167 rs111572461 A G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.8792,G/0.1208;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:16:16:0:0:10,6:306,196:0.00,17.87:0.00,18.18:0.00,-0.31:0.00,0.95:0.00,0.95:0.00,0.78:60,60:9.5,37.8:0,0:0,0:36,61:114,88:27,20:-,chr2 g.159731166A>G (intergenic):-,0.14:-,NOT_FOUND 2 159731466 rs10186922 A G 286 nt VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.5469,G/0.4531 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:50:0:0:80:2482:285.99:126.25:159.75:1.00:1.00:1.00:60:37.9:0:0:77:73:38:chr2 g.159731465A>G (intergenic),chr2 g.159731465A>G (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 2 159731808 rs13420835 G A 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5204,A/0.4796;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:263:30.12:0.00:30.12:1.00:0.00:1.00:60:35.8:0:0:85:65:37:chr2 g.159731807G>A (intergenic),chr2 g.159731807G>A (intergenic):0.51,0.51:NOT_FOUND,NOT_FOUND 2 159803448 rs70994244 GGT G 22 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=93;PC=0.001;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:8:0:8:6:253:22.01:14.71:7.30:1.00:1.00:0.85:60:0.0:2:0:31:91:23:chr2 g.159803449_159803450delGT (intergenic),chr2 g.159803449_159803450delGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 159916400 rs3058724 T TTG 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=3;PC=0.002;Gene=TANC1/NM_001145909.1/0;CC=c.-15-5966_-15-5965insTG;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.-15-5966_-15-5965insTG;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TTG:4:5:3:0:2,2:64,100:0.00,6.31:0.00,6.43:0.00,-0.11:0.00,0.46:0.00,0.46:0.00,0.60:60,60:0.0,89.5:0,1:0,0:70,38:40,100:44,13:-,NM_033394.2(TANC1) c.-15-6008_-15-6007insTG:-,NOT_FOUND:-,NOT_FOUND 2 159916450 rs11683839 G T 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6939,T/0.3061;NP=273;PC=0.036;Gene=TANC1/NM_001145909.1/0;CC=c.-15-5958G>T;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.-15-5958G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,T:4:4:0:0:2,2:47,66:0.00,6.36:0.00,6.36:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:57.0,70.5:0,0:0,0:90,55:61,87:13,36:-,NM_033394.2(TANC1) c.-15-5958G>T:-,NOT_FOUND:-,NOT_FOUND 2 159916625 . G . . NT END=159922407;NT GT ./. 2 159922484 . G . . NT END=159954148;NT GT ./. 2 159954175 rs34588551 C T 86 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.8636,T/0.1364;PC=0.001;Gene=TANC1/NM_001145909.1/0;CC=c.88C>T;ProtCh=p.P30S;VC=Missense;Gene=TANC1/NM_033394.2/1;CC=c.88C>T;ProtCh=p.P30S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:65:0:0:43,30:1375,927:0.00,85.52:0.00,65.16:0.00,20.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,35.8:0,0:0,0:64,61:81,88:38,32:-,NM_033394.2(TANC1) c.88C>T (p.Pro30Ser):-,0.18:-,0.269992 2 159954347 . G . . NT END=159992704;NT GT ./. 2 159954420 rs13414916 C T 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7634,T/0.2366;Gene=TANC1/NM_001145909.1/0;CC=c.259+74C>T;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.259+74C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:5:0:0:15,13:448,389:0.00,36.70:0.00,5.06:0.00,31.64:0.00,1.00:0.00,0.95:0.00,1.00:60,60:15.9,39.4:0,0:0,0:102,105:49,46:41,28:-,NM_033394.2(TANC1) c.259+74C>T:-,0.21:-,NOT_FOUND 2 159954568 rs10171327 A T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3504,T/0.6496;Gene=TANC1/NM_001145909.1/0;CC=c.259+222A>T;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.259+222A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:192:22.06:0.00:22.06:1.00:0.00:1.00:60:37.8:0:0:105:44:36:NM_033394.2(TANC1) c.259+222A>T,NM_033394.2(TANC1) c.259+222A>T:0.67,0.67:NOT_FOUND,NOT_FOUND 2 159971683 rs68140748 GGT G,GGTGTGT 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GGT/0.4938,G/0.5062;NP=167;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:64:GGTGTGT,G:4:2:2:2:2,2:67,67:7.05,7.05:1.79,1.79:5.26,5.26:0.51,0.00:0.79,0.00:0.51,0.00:60,60:3.5,0.0:0,0:0,0:47,90:103,61:28,2:NM_033394.2(TANC1) c.259+17338_259+17339delGT,NM_033394.2(TANC1) c.259+17338GT[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 159992556 rs10199927 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;PC=0.672;Gene=TANC1/NM_001145909.1/0;CC=c.260-149T>C;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.260-149T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,T:5:5:0:0:4,1:136,30:14.42,0.00:10.54,0.00:3.88,0.00:0.96,0.00:0.96,0.00:0.97,0.00:60,60:126.8,0.0:0,0:0,0:69,140:78,6:14,0:NM_033394.2(TANC1) c.260-149T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 159992560 rs62171096 T C 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=225;PC=0.281;Gene=TANC1/NM_001145909.1/0;CC=c.260-145T>C;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.260-145T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,T:6:6:0:0:5,1:171,31:18.31,0.00:14.36,0.00:3.95,0.00:0.99,0.00:0.99,0.00:0.98,0.00:60,60:114.4,0.0:0,0:0,0:63,144:88,2:21,0:NM_033394.2(TANC1) c.260-145T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 159992572 rs35935932 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1122,T/0.8878;PC=0.372;Gene=TANC1/NM_001145909.1/0;CC=c.260-133C>T;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.260-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:213:24.63:20.71:3.93:1.00:1.00:1.00:60:88.1:0:0:56:95:40:NM_033394.2(TANC1) c.260-133C>T,NM_033394.2(TANC1) c.260-133C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 159992810 . G . . NT END=160005652;NT GT ./. 2 160005515 rs7583577 G C 121 nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.02017,C/0.9798;PC=0.262;Gene=TANC1/NM_001145909.1/0;CC=c.365-141G>C;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.365-138G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:30:0:0:31:1065:121.28:113.53:7.75:1.00:1.00:1.00:60:38.3:0:0:46:103:27:NM_033394.2(TANC1) c.365-138G>C,NM_033394.2(TANC1) c.365-138G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 160005784 . G . . NT END=160006880;NT GT ./. 2 160007068 . G . . NT END=160019793;NT GT ./. 2 160007288 rs548996846 TAA T 9 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;PC=0.035;Gene=TANC1/NM_001145909.1/0;CC=c.679+236_679+237delAA;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.682+236_682+237delAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TAA,T:4:0:0:5:1,3:33,132:0.00,8.93:0.00,0.00:0.00,8.93:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,94.3:0,2:0,0:132,114:15,37:0,14:-,NM_033394.2(TANC1) c.682+222_682+223delAA:-,NOT_FOUND:-,NOT_FOUND 2 160019863 rs12466551 A G 325 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.02017,G/0.9798;PC=1.000;Gene=TANC1/NM_001145909.1/0;CC=c.749A>G;ProtCh=p.N250S;VC=Missense;Gene=TANC1/NM_033394.2/1;CC=c.752A>G;ProtCh=p.N251S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:65:0:0:83:2859:325.46:202.33:123.14:1.00:1.00:1.00:60:36.0:0:0:69:82:39:NM_033394.2(TANC1) c.752A>G (p.Asn251Ser),NM_033394.2(TANC1) c.752A>G (p.Asn251Ser):0.98,0.98:0.987299,0.987299 2 160020058 . G . . NT END=160025760;NT GT ./. 2 160020341 rs56303579 T TTTG 25 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3824,TTTG/0.6176;DB;DBA=NA;PAF=T/0.3824,TTTG/0.6176;NP=27;PC=0.128;Gene=TANC1/NM_001145909.1/0;CC=c.943+287_943+289dupGTT;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.946+287_946+289dupGTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:T,TTTG:8:0:7:0:1,7:19,231:0.00,25.14:0.00,0.00:0.00,25.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:104.0,1.7:1,0:0,0:80,91:44,60:0,23:-,NM_033394.2(TANC1) c.946+284_946+285insTTG:-,NOT_FOUND:-,NOT_FOUND 2 160025884 . G . . NT END=160027034;NT GT ./. 2 160027317 . G . . NT END=160028631;NT GT ./. 2 160027587 rs397787058 G GC 16 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=244;PC=0.176;Gene=TANC1/NM_001145909.1/0;CC=c.1327+272dupC;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.1351+272dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,GC:6:0:5:0:1,5:33,145:0.00,15.70:0.00,0.00:0.00,15.70:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,40.8:0,0:0,0:149,89:2,61:0,32:-,NM_033394.2(TANC1) c.1351+271_1351+272insC:-,1:-,NOT_FOUND 2 160028382 rs4664268 A AAAAAAG 9 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.015;Gene=TANC1/NM_001145909.1/0;CC=c.1328-246_1328-245insAGAAAA;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.1352-246_1352-245insAGAAAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,AAAAAAG:5:8:6:0:2,3:66,187:0.00,9.45:0.00,9.45:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,70:41.5,94.7:0,3:0,0:121,28:24,122:18,20:-,NM_033394.2(TANC1) c.1352-250_1352-249insAAAAAG:-,NOT_FOUND:-,NOT_FOUND 2 160028784 . G . . NT END=160031463;NT GT ./. 2 160031696 . G . . NT END=160032862;NT GT ./. 2 160033030 . G . . NT END=160035066;NT GT ./. 2 160033174 rs759034 A G 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.02037,G/0.9796;Gene=TANC1/NM_001145909.1/0;CC=c.1878+145A>G;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.1902+145A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:257:29.51:0.00:29.51:1.00:0.00:1.00:60:32.1:0:0:123:26:19:NM_033394.2(TANC1) c.1902+145A>G,NM_033394.2(TANC1) c.1902+145A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 160034919 rs4665031 A G 59 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.02037,G/0.9796;PC=1.000;Gene=TANC1/NM_001145909.1/0;CC=c.1879-148A>G;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.1903-148A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:510:58.60:56.66:1.94:1.00:1.00:1.00:60:38.2:0:0:20:130:11:NM_033394.2(TANC1) c.1903-148A>G,NM_033394.2(TANC1) c.1903-148A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 160035207 rs6748288 T C 513 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=T/0.02097,A/.,C/0.979;PC=0.003;Gene=TANC1/NM_001145909.1/0;CC=c.2019T>C;ProtCh=p.N673=;VC=Silent;Gene=TANC1/NM_033394.2/1;CC=c.2043T>C;ProtCh=p.N681=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:141:96:0:0:141:4460:512.87:279.82:233.05:1.00:1.00:1.00:60:39.0:0:0:74:74:36:NM_033394.2(TANC1) c.2043T>C (p.(=)),NM_033394.2(TANC1) c.2043T>C (p.(=)):0.98,0.98:0.985946,0.985946 2 160035675 . G . . NT END=160042301;NT GT ./. 2 160042411 . G . . NT END=160043412;NT GT ./. 2 160042430 rs13389867 G A 144 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8095,A/0.1905;Gene=TANC1/NM_001145909.1/0;CC=c.2595+20G>A;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.2619+20G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:21:0:0:37:1261:143.74:49.60:94.14:1.00:1.00:1.00:60:39.5:0:0:85:62:24:NM_033394.2(TANC1) c.2619+20G>A,NM_033394.2(TANC1) c.2619+20G>A:0.18,0.18:0.246511,0.246511 2 160043536 . G . . NT END=160050767;NT GT ./. 2 160051005 . G . . NT END=160053118;NT GT ./. 2 160053305 . G . . NT END=160055485;NT GT ./. 2 160055448 rs13430891 T A 134 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7101,A/0.2899;PC=0.107;Gene=TANC1/NM_001145909.1/0;CC=c.3142-38T>A;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.3166-38T>A;VC=Intron;DM=TANC1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:33:0:0:36:1165:133.62:106.98:26.64:1.00:1.00:1.00:60:44.5:0:0:48:97:33:NM_033394.2(TANC1) c.3166-38T>A,NM_033394.2(TANC1) c.3166-38T>A:0.28,0.28:0.351487,0.351487 2 160055565 . G . . NT END=160074007;NT GT ./. 2 160074142 . G . . NT END=160075748;NT GT ./. 2 160075873 . G . . NT END=160076202;NT GT ./. 2 160076379 . G . . NT END=160080742;NT GT ./. 2 160076486 . A AGT 33 nt VT=INS;SST=Single;DP=40;NP=5;Gene=TANC1/NM_001145909.1/0;CC=c.3654+109_3654+110insTG;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.3678+109_3678+110insTG;VC=Intron;DM=TANC1/Ank_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,AGT,D:39:3:13:1:24,1,1,12,1:767,9,35,406,31:0.00,-0.09,2.11,33.44,1.72:0.00,-0.01,-0.01,1.57,-0.01:0.00,-0.08,2.12,31.87,1.73:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.69,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:35.9,194.0,145.0,60.2,11.0:3,0,1,1,0:0,0,0,0,0:131,107,87,63,57:18,43,64,88,94:18,0,0,18,0:-,NM_033394.2(TANC1) c.3678+108_3678+109insGT:-,NOT_FOUND:-,NOT_FOUND 2 160076488 rs55859574 A T 116 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=265;PC=0.026;Gene=TANC1/NM_001145909.1/0;CC=c.3654+110A>T;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.3678+110A>T;VC=Intron;DM=TANC1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,T:34:3:0:1:2,32:68,1038:0.00,115.71:0.00,3.34:0.00,112.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,58.2:2,15:0,0:71,97:80,49:17,31:NM_033394.2(TANC1) c.3678+110A>T,NM_033394.2(TANC1) c.3678+110A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160080876 . G . . NT END=160082198;NT GT ./. 2 160082291 . G . . NT END=160084329;NT GT ./. 2 160082354 rs12692544 C T 118 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.2528,T/0.7472;Gene=TANC1/NM_001145909.1/0;CC=c.3879+64C>T;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.3903+64C>T;VC=Intron;DM=TANC1/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:9:0:0:32:1028:118.06:22.01:96.05:1.00:1.00:1.00:60:34.4:0:0:82:69:34:NM_033394.2(TANC1) c.3903+64C>T,NM_033394.2(TANC1) c.3903+64C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 2 160084224 rs2042494 G A 127 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.2482,A/0.7518;Gene=TANC1/NM_001145909.1/0;CC=c.3880-106G>A;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.3904-106G>A;VC=Intron;DM=TANC1/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:32:0:0:34:1112:127.41:116.23:11.18:1.00:1.00:1.00:60:67.4:0:0:45:104:26:NM_033394.2(TANC1) c.3904-106G>A,NM_033394.2(TANC1) c.3904-106G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 2 160084263 rs2042495 A G 168 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.2518,G/0.7482;Gene=TANC1/NM_001145909.1/0;CC=c.3880-67A>G;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.3904-67A>G;VC=Intron;DM=TANC1/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A,G,T:51:45:0:0:1,49,1:11,1467,12:0.00,168.02,0.26:0.00,128.64,-0.01:0.00,39.38,0.27:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:156.0,55.2,29.0:0,0,0:0,0,0:86,39,10:65,108,141:0,28,0:NM_033394.2(TANC1) c.3904-67A>G,NM_033394.2(TANC1) c.3904-67A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 160084473 rs2288110 A C 269 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.5212,C/0.4788;PC=0.966;Gene=TANC1/NM_001145909.1/0;CC=c.4023A>C;ProtCh=p.T1341=;VC=Silent;Gene=TANC1/NM_033394.2/1;CC=c.4047A>C;ProtCh=p.T1349=;VC=Silent;DM=TANC1/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:35:0:0:72:2345:268.71:83.71:185.00:1.00:1.00:1.00:60:54.7:0:0:87:57:34:NM_033394.2(TANC1) c.4047A>C (p.(=)),NM_033394.2(TANC1) c.4047A>C (p.(=)):0.47,0.47:0.351577,0.351577 2 160084477 . G . . NT END=160085306;NT GT ./. 2 160084534 rs2288111 A G 171 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.252,G/0.748;PC=0.003;Gene=TANC1/NM_001145909.1/0;CC=c.4026+58A>G;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.4050+58A>G;VC=Intron;DM=TANC1/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G,T:50:17:0:0:49,1:1477,14:170.54,0.39:37.76,0.39:132.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.8,133.0:0,0:0,0:87,147:57,3:37,0:NM_033394.2(TANC1) c.4050+58A>G,NM_033394.2(TANC1) c.4050+58A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 160085413 . G . . NT END=160086088;NT GT ./. 2 160085770 rs2042496 A G 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4902,G/0.5098;PC=0.003;Gene=TANC1/NM_001145909.1/0;CC=c.4133-319A>G;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.4152-319A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:3:0:0:4:107:12.55:8.77:3.78:1.00:1.00:1.00:60:81.8:0:0:46:104:41:NM_033394.2(TANC1) c.4152-319A>G,NM_033394.2(TANC1) c.4152-319A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 160085852 rs4664275 T C 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4878,C/0.5122;Gene=TANC1/NM_001145909.1/0;CC=c.4133-237T>C;VC=Intron;Gene=TANC1/NM_033394.2/1;CC=c.4152-237T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:197:22.97:22.97:0.00:1.00:1.00:0.00:60:83.6:0:0:35:116:25:NM_033394.2(TANC1) c.4152-237T>C,NM_033394.2(TANC1) c.4152-237T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 160086653 rs4664276 C T 415 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=C/0.509,T/0.491;Gene=TANC1/NM_001145909.1/0;CC=c.*524C>T;VC=3UTR;Gene=TANC1/NM_033394.2/1;CC=c.4716C>T;ProtCh=p.A1572=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:109:67:0:0:1,108:6,3647:0.00,414.79:0.00,209.47:0.00,205.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:202.0,99.2:0,0:0,0:41,72:110,77:0,32:NM_033394.2(TANC1) c.4716C>T (p.(=)),NM_033394.2(TANC1) c.4716C>T (p.(=)):0.4,0.4:0.342097,0.342097 2 160086654 rs55738533 A G 408 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.4902,G/0.5098;Gene=TANC1/NM_001145909.1/0;CC=c.*525A>G;VC=3UTR;Gene=TANC1/NM_033394.2/1;CC=c.4717A>G;ProtCh=p.T1573A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:107:66:0:0:107:3567:407.62:204.91:202.70:1.00:1.00:1.00:60:102.4:0:0:73:77:34:NM_033394.2(TANC1) c.4717A>G (p.Thr1573Ala),NM_033394.2(TANC1) c.4717A>G (p.Thr1573Ala):0.41,0.41:0.361859,0.361859 2 160086692 rs3821296 A G 423 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=A/0.5212,C/.,G/0.4788;Gene=TANC1/NM_001145909.1/0;CC=c.*563A>G;VC=3UTR;Gene=TANC1/NM_033394.2/1;CC=c.4755A>G;ProtCh=p.T1585=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:123:88:0:0:123:3646:422.77:242.68:180.08:1.00:1.00:1.00:60:85.0:0:0:68:80:39:NM_033394.2(TANC1) c.4755A>G (p.(=)),NM_033394.2(TANC1) c.4755A>G (p.(=)):0.46,0.46:0.348726,0.348726 2 160087524 . A . . NT END=160092543;NT GT ./. 2 160087535 rs3821301 T G 182 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.2518,G/0.7482;Gene=TANC1/NM_001145909.1/0;CC=c.*1406T>G;VC=3UTR;Gene=TANC1/NM_033394.2/1;CC=c.*12T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G,T:49:11:0:0:48,1:1614,12:182.43,0.00:27.98,0.00:154.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,0.0:0,0:0,0:102,1:48,150:29,0:NM_033394.2(TANC1) c.*12T>G,NM_033394.2(TANC1) c.*12T>G:0.77,0.77:0.828754,0.828754 2 160092702 . C . . NT END=160104882;NT GT ./. 2 160092703 . TA T 23 idl,rn VT=DEL;SST=Single;DP=69;NP=58;PC=0.775;Gene=WDSUB1/NM_152528.2/0;CC=c.1274-3delT;VC=Intron;Gene=WDSUB1/NM_001128213.1/1;CC=c.1274-3delT;VC=Intron;Gene=WDSUB1/NM_001128212.2/0;CC=c.1274-3delT;VC=Intron;Gene=WDSUB1/NM_001307994.1/0;CC=c.998-3delT;VC=Intron;DM=WDSUB1/U-box;DM=WDSUB1/U-box;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,TA,I,T:69:34:4:10:1,54,4,10:9,1707,116,303:-0.22,0.00,7.18,23.03:-0.11,0.00,2.13,11.01:-0.11,0.00,5.05,12.02:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:74.0,14.9,11.5,7.2:0,0,0,0:0,0,0,0:33,78,68,61:117,73,82,79:0,36,24,17:-,NM_001128213.1(WDSUB1) c.1274-3delT:-,NOT_FOUND:-,0.100016 2 160105024 . C . . NT END=160112706;NT GT ./. 2 160112887 . C . . NT END=160114268;NT GT ./. 2 160114000 rs6746645 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7141,T/0.2859;PC=0.002;Gene=WDSUB1/NM_152528.2/0;CC=c.952+269G>A;VC=Intron;Gene=WDSUB1/NM_001128213.1/1;CC=c.952+269G>A;VC=Intron;Gene=WDSUB1/NM_001128212.2/0;CC=c.952+269G>A;VC=Intron;Gene=WDSUB1/NM_001307994.1/0;CC=c.677-1114G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:2:0:0:4:90:10.86:7.35:3.51:1.00:1.00:1.00:60:58.5:0:0:92:56:50:NM_001128213.1(WDSUB1) c.952+269G>A,NM_001128213.1(WDSUB1) c.952+269G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 2 160114376 . C . . NT END=160114455;NT GT ./. 2 160114497 . C . . NT END=160116320;NT GT ./. 2 160116355 . C . . NT END=160128212;NT GT ./. 2 160128307 . C . . NT END=160132056;NT GT ./. 2 160132150 . C . . NT END=160136271;NT GT ./. 2 160132196 rs397745507 A AC 79 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.372,AC/0.628,ACC/.;DB;DBA=NA;PAF=A/0.372,AC/0.628;NP=2407;PC=0.016;Gene=WDSUB1/NM_152528.2/0;CC=c.584-48dupG;VC=Intron;Gene=WDSUB1/NM_001128213.1/1;CC=c.584-48dupG;VC=Intron;Gene=WDSUB1/NM_001128212.2/0;CC=c.584-48dupG;VC=Intron;Gene=WDSUB1/NM_001307994.1/0;CC=c.584-48dupG;VC=Intron;DM=WDSUB1/WD40;DM=WDSUB1/WD40;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,AC:31:10:27:0:5,26:152,763:0.00,79.48:0.00,17.49:0.00,62.00:0.00,1.00:0.00,1.00:0.00,1.00:60,70:4.2,6.2:0,1:0,0:136,108:5,42:10,32:-,NM_001128213.1(WDSUB1) c.584-48_584-47insG:-,NOT_FOUND:-,NOT_FOUND 2 160136337 rs174264 G A 344 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=3468;PC=1.000;Gene=WDSUB1/NM_152528.2/0;CC=c.518C>T;ProtCh=p.P173L;VC=Missense;Gene=WDSUB1/NM_001128213.1/1;CC=c.518C>T;ProtCh=p.P173L;VC=Missense;Gene=WDSUB1/NM_001128212.2/0;CC=c.518C>T;ProtCh=p.P173L;VC=Missense;Gene=WDSUB1/NM_001307994.1/0;CC=c.518C>T;ProtCh=p.P173L;VC=Missense;DM=WDSUB1/WD40;DM=WDSUB1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:91:67:0:0:91:3004:343.69:193.14:150.55:1.00:1.00:1.00:60:42.1:0:0:66:81:36:NM_001128213.1(WDSUB1) c.=,NM_001128213.1(WDSUB1) c.=:1,1:0.999923,0.999923 2 160136457 . C . . NT END=160139182;NT GT ./. 2 160139581 . G . . NT END=160176775;NT GT ./. 2 160176930 . C . . NT END=160181321;NT GT ./. 2 160176943 rs174229 A C 105 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.05591,C/0.9441;PC=0.988;Gene=BAZ2B/NM_001289975.1/0;CC=c.6246-14T>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.6354-14T>G;VC=Intron;DM=BAZ2B/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:10:0:0:29:911:104.85:26.99:77.86:1.00:1.00:1.00:60:43.8:0:0:66:70:42:NM_013450.2(BAZ2B) c.6354-14T>G,NM_013450.2(BAZ2B) c.6354-14T>G:0.96,0.96:0.950822,0.950822 2 160181136 rs67030583 TACACACACACACACACACACACACAC T 11 idl,nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;Gene=BAZ2B/NM_001289975.1/0;CC=c.6245+160_6245+185delGTGTGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.6353+160_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;DM=BAZ2B/Bromodomain;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:TACACACACACACACACACACACACAC,T:15:17:0:8:10,5:305,231:0.00,11.46:0.00,11.82:0.00,-0.35:0.00,0.87:0.00,0.99:0.00,0.73:60,60:14.7,31.8:0,3:0,0:94,40:38,110:19,14:-,NM_013450.2(BAZ2B) c.6353+160_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 160181466 . C . . NT END=160182163;NT GT ./. 2 160181543 rs67500828 TTA T 8 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=61;Gene=BAZ2B/NM_001289975.1/0;CC=c.6102-80_6102-79delTA;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.6210-80_6210-79delTA;VC=Intron;DM=BAZ2B/Bromodomain;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:TTA,T:15:9:0:3:12,3:378,100:0.00,8.17:0.00,7.41:0.00,0.76:0.00,0.55:0.00,0.82:0.00,0.87:60,60:14.8,0.0:0,0:0,0:127,113:9,37:21,5:-,NM_013450.2(BAZ2B) c.6210-80_6210-79delTA:-,0.89:-,NOT_FOUND 2 160181549 . ATAT A 14 nt VT=DEL;SST=Single;DP=13;NP=3;PC=0.010;Gene=BAZ2B/NM_001289975.1/0;CC=c.6102-87_6102-85delATA;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.6210-87_6210-85delATA;VC=Intron;DM=BAZ2B/Bromodomain;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:ATAT,A:13:8:0:5:8,5:259,152:0.00,13.82:0.00,9.45:0.00,4.37:0.00,0.91:0.00,0.97:0.00,0.98:60,60:4.0,29.2:3,0:0,0:134,94:3,57:14,5:-,NM_013450.2(BAZ2B) c.6210-87_6210-85delATA:-,NOT_FOUND:-,NOT_FOUND 2 160181570 . AT A 26 nt VT=DEL;SST=Single;DP=7;NP=17;Gene=BAZ2B/NM_001289975.1/0;CC=c.6102-106delA;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.6210-106delA;VC=Intron;DM=BAZ2B/Bromodomain;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:6:0:8:7:230:26.34:18.78:7.55:1.00:1.00:1.00:60:19.0:0:0:113:28:17:NM_013450.2(BAZ2B) c.6210-106delA,NM_013450.2(BAZ2B) c.6210-106delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160181587 . AT A 21 nt VT=DEL;SST=Single;DP=7;NP=6;PC=0.005;Gene=BAZ2B/NM_001289975.1/0;CC=c.6102-123delA;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.6210-123delA;VC=Intron;DM=BAZ2B/Bromodomain;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:AT,A:7:4:0:6:1,6:12,191:0.00,20.77:0.00,10.58:0.00,10.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.0,43.2:0,0:0,0:6,124:139,23:0,3:NM_013450.2(BAZ2B) c.6210-123delA,NM_013450.2(BAZ2B) c.6210-123delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160181603 rs174221 T A,G 7 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;DM=BAZ2B/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,G,T:4:2:0:1:1,2,1:12,68,11:0.95,6.86,0.00:0.95,-0.29,0.00:0.00,7.15,0.00:0.00,0.51,0.00:0.00,0.79,0.00:0.00,0.79,0.00:60,58,60:12.0,105.0,0.0:0,0,0:0,0,0:138,126,144:11,-4,6:0,0,0:NM_013450.2(BAZ2B) c.6210-138A>T,NM_013450.2(BAZ2B) c.6210-138A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160182074 rs440241 T A 49 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2428,A/0.7572;Gene=BAZ2B/NM_001289975.1/0;CC=c.6101+90A>T;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.6209+90A>T;VC=Intron;DM=BAZ2B/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:27:0:0:15,12:499,389:49.00,0.00:47.24,0.00:1.76,0.00:1.00,0.00:1.00,0.00:0.70,0.00:60,60:37.1,5.2:0,0:0,0:53,36:96,114:15,29:NM_013450.2(BAZ2B) c.6209+90A>T,-:0.7,-:NOT_FOUND,- 2 160182302 rs415793 C T 85 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.7494,T/0.2506;PC=1.000;Gene=BAZ2B/NM_001289975.1/0;CC=c.5963G>A;ProtCh=p.S1988N;VC=Missense;Gene=BAZ2B/NM_013450.3/1;CC=c.6071G>A;ProtCh=p.S2024N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:71:45:0:0:1,41,29:9,1364,918:-0.14,0.00,85.00:-0.02,0.00,44.35:-0.13,0.00,40.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:66.0,6.4,46.2:0,0,0:0,0,0:62,56,75:66,92,70:0,37,38:-,NM_013450.2(BAZ2B) c.6071G>A (p.Ser2024Asn):-,0.25:-,0.239035 2 160182430 . C . . NT END=160189050;NT GT ./. 2 160189198 . C . . NT END=160193452;NT GT ./. 2 160193589 . C . . NT END=160193972;NT GT ./. 2 160194284 . C . . NT END=160203996;NT GT ./. 2 160203934 rs965163 A T 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=BAZ2B/NM_001289975.1/0;CC=c.5346+63T>A;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.5454+63T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:25:0:0:25:805:92.42:84.77:7.65:1.00:1.00:1.00:60:35.0:0:0:41:109:34:NM_013450.2(BAZ2B) c.5454+63T>A,NM_013450.2(BAZ2B) c.5454+63T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160204158 . C . . NT END=160205188;NT GT ./. 2 160204426 rs13004043 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.873,C/0.127;PC=0.065;Gene=BAZ2B/NM_001289975.1/0;CC=c.5186-269A>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.5294-269A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:C,T:4:0:0:0:3,1:98,25:10.25,0.00:0.00,0.00:10.25,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:32.7,16.0:0,0:0,0:86,51:65,100:29,0:NM_013450.2(BAZ2B) c.5294-269A>G,-:0.17,-:NOT_FOUND,- 2 160205345 . C . . NT END=160205517;NT GT ./. 2 160205792 . C . . NT END=160206218;NT GT ./. 2 160206869 . C . . NT END=160229555;NT GT ./. 2 160229701 . C . . NT END=160231201;NT GT ./. 2 160231108 rs6742788 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4211,G/0.5789;Gene=BAZ2B/NM_001289975.1/0;CC=c.3960+94T>C;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.4068+94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:414:47.99:45.95:2.04:1.00:1.00:1.00:60:38.8:0:0:69:81:40:NM_013450.2(BAZ2B) c.4068+94T>C,NM_013450.2(BAZ2B) c.4068+94T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 160231265 . C . . NT END=160239069;NT GT ./. 2 160239314 . C . . NT END=160240116;NT GT ./. 2 160239378 rs2302927 A G 75 nt VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.7688,G/0.2312;Gene=BAZ2B/NM_001289975.1/0;CC=c.3654-65T>C;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3762-65T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:13:0:0:21,24:672,768:0.00,74.71:0.00,13.32:0.00,61.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,50.5:0,0:0,0:87,101:60,48:15,17:-,NM_013450.2(BAZ2B) c.3762-65T>C:-,0.3:-,NOT_FOUND 2 160240192 . C . . NT END=160241665;NT GT ./. 2 160241881 . C . . NT END=160242863;NT GT ./. 2 160241936 rs1469015 A G 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.4523,G/0.5477;PC=0.042;Gene=BAZ2B/NM_001289975.1/0;CC=c.3364-56T>C;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3472-56T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:5:0:0:14:437:50.34:11.53:38.81:1.00:1.00:1.00:60:42.2:0:0:105:45:19:NM_013450.2(BAZ2B) c.3472-56T>C,NM_013450.2(BAZ2B) c.3472-56T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 160241998 rs5835743 C CTT 21 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4537,CTT/0.5463;DB;DBA=NA;PAF=C/0.4537,CTT/0.5463,CTTT/.;NP=1;NP=541;Gene=BAZ2B/NM_001289975.1/0;CC=c.3364-120_3364-119dupAA;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3472-120_3472-119dupAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,CTT:8:0:8:0:1,7:34,228:0.00,21.42:0.00,0.00:0.00,21.42:0.00,1.00:0.00,0.00:0.00,1.00:60,60:36.0,42.1:0,1:0,0:134,76:10,60:0,29:-,NM_013450.2(BAZ2B) c.3472-119_3472-118insAA:-,NOT_FOUND:-,NOT_FOUND 2 160243119 . C . . NT END=160245855;NT GT ./. 2 160243183 rs918351 T A 102 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.3371,A/0.6629;PC=0.074;Gene=BAZ2B/NM_001289975.1/0;CC=c.3109-65A>T;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3217-65A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:7:0:0:28:885:101.81:13.32:88.49:1.00:1.00:1.00:60:65.9:0:0:116:32:19:NM_013450.2(BAZ2B) c.3217-65A>T,NM_013450.2(BAZ2B) c.3217-65A>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 160243184 rs918350 A T 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.3371,T/0.6629;PC=0.010;Gene=BAZ2B/NM_001289975.1/0;CC=c.3109-66T>A;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3217-66T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:7:0:0:27:850:97.86:14.05:83.81:1.00:1.00:1.00:60:67.1:0:0:115:32:19:NM_013450.2(BAZ2B) c.3217-66T>A,NM_013450.2(BAZ2B) c.3217-66T>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 160245640 rs374289354 A C 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6671,C/0.3329;DB;DBA=NA;PAF=NA;PC=0.011;Gene=BAZ2B/NM_001289975.1/0;CC=c.3108+216T>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3216+216T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,C:6:6:0:0:3,3:100,79:0.00,7.50:0.00,7.50:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:14.7,93.0:0,0:0,0:46,30:105,120:19,4:-,NM_013450.2(BAZ2B) c.3216+216T>G:-,0.43:-,NOT_FOUND 2 160245997 . C . . NT END=160252279;NT GT ./. 2 160246152 rs2302926 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6713,C/0.3287;PC=0.002;Gene=BAZ2B/NM_001289975.1/0;CC=c.2968-156A>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3076-156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:16:1:0:0:6,10:174,308:15.65,0.00:-0.20,0.00:15.86,0.00:0.95,0.00:0.58,0.00:1.00,0.00:60,60:60.3,6.2:0,0:0,0:57,109:93,41:29,40:NM_013450.2(BAZ2B) c.3076-156A>G,-:0.31,-:NOT_FOUND,- 2 160246181 rs2302925 T G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5715,G/0.4285;PC=0.005;Gene=BAZ2B/NM_001289975.1/0;CC=c.2968-185A>C;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.3076-185A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:13:0:0:0:7,6:200,196:19.42,0.00:0.00,0.00:19.42,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:55.0,7.5:0,0:0,0:78,91:73,59:39,45:NM_013450.2(BAZ2B) c.3076-185A>C,-:0.41,-:NOT_FOUND,- 2 160252346 . C . . NT END=160253578;NT GT ./. 2 160253612 . C . . NT END=160253855;NT GT ./. 2 160253901 . C . . NT END=160255339;NT GT ./. 2 160255406 . C . . NT END=160257109;NT GT ./. 2 160255665 rs386391620 T TAA 21 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.09545,TAA/0.9046;DB;DBA=NA;PAF=T/0.09545,TAA/0.9046;DB;DBA=NA;PAF=T/0.09545,TAA/0.9046;NP=338;PC=0.740;Gene=BAZ2B/NM_001289975.1/0;CC=c.2791-262_2791-261dupTT;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2899-262_2899-261dupTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TAA:6:0:6:0:6:184:21.26:0.00:21.26:1.00:0.00:1.00:60:10.5:0:0:93:56:27:NM_013450.2(BAZ2B) c.2899-261_2899-260insTT,NM_013450.2(BAZ2B) c.2899-261_2899-260insTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160257176 . C . . NT END=160261359;NT GT ./. 2 160257398 rs6432530 A T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02097,T/0.979;PC=0.002;Gene=BAZ2B/NM_001289975.1/0;CC=c.2725-223T>A;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2833-223T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:114:13.30:0.00:13.30:1.00:0.00:1.00:60:39.5:0:0:94:56:25:NM_013450.2(BAZ2B) c.2833-223T>A,NM_013450.2(BAZ2B) c.2833-223T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 160261422 . C . . NT END=160261532;NT GT ./. 2 160261626 . C . . NT END=160268417;NT GT ./. 2 160261721 rs35567166 T C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6925,C/0.3075;NP=1303;PC=0.004;Gene=BAZ2B/NM_001289975.1/0;CC=c.2570-96A>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2678-96A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:2:0:0:13,14:423,428:40.40,0.00:1.20,0.00:39.20,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:48.9,16.5:0,0:0,0:116,73:35,76:25,23:NM_013450.2(BAZ2B) c.2678-96A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 160261729 rs74694096 AC A 56 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=2213;PC=0.181;Gene=BAZ2B/NM_001289975.1/0;CC=c.2570-105delG;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2678-105delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:24:1:0:18:7,17:224,545:0.00,56.32:0.00,1.81:0.00,54.50:0.00,1.00:0.00,0.81:0.00,1.00:60,60:55.3,19.6:0,0:0,0:143,80:7,71:5,14:-,NM_013450.2(BAZ2B) c.2678-105delG:-,NOT_FOUND:-,NOT_FOUND 2 160261730 rs11307816 C T 21 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.181;Gene=BAZ2B/NM_001289975.1/0;CC=c.2570-105G>A;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2678-105G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,T:7:0:0:18:1,6:10,194:0.00,21.10:0.00,0.00:0.00,21.10:0.00,1.00:0.00,0.00:0.00,1.00:60,60:123.0,58.7:0,0:0,0:65,144:85,6:0,4:NM_013450.2(BAZ2B) c.2678-105G>A,NM_013450.2(BAZ2B) c.2678-105G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160268393 rs3771715 A G 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3211,G/0.6789;PC=0.999;Gene=BAZ2B/NM_001289975.1/0;CC=c.2569+453T>C;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2677+453T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:11:0:0:13:385:44.53:32.65:11.88:1.00:1.00:1.00:60:48.2:0:0:26:125:20:NM_013450.2(BAZ2B) c.2677+453T>C,NM_013450.2(BAZ2B) c.2677+453T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 2 160268503 . G . . NT END=160268845;NT GT ./. 2 160269057 . C . . NT END=160284451;NT GT ./. 2 160269308 rs3755434 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3446,C/0.6554;Gene=BAZ2B/NM_001289975.1/0;CC=c.2359-252A>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2467-252A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:214:24.74:0.00:24.74:1.00:0.00:1.00:60:34.3:0:0:106:44:6:NM_013450.2(BAZ2B) c.2467-252A>G,NM_013450.2(BAZ2B) c.2467-252A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 2 160284554 . C . . NT END=160284821;NT GT ./. 2 160284931 . C . . NT END=160285710;NT GT ./. 2 160285060 rs57144725 C T 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7574,T/0.2426;Gene=BAZ2B/NM_001289975.1/0;CC=c.2250-130G>A;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2256-130G>A;VC=Intron;DM=BAZ2B/MBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:C,T:22:0:0:0:6,16:182,445:0.00,46.53:0.00,0.00:0.00,46.53:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.2,37.1:0,0:0,0:91,104:59,46:29,40:-,NM_013450.2(BAZ2B) c.2256-130G>A:-,0.31:-,NOT_FOUND 2 160285575 rs12473781 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6663,T/0.3337;PC=0.003;Gene=BAZ2B/NM_001289975.1/0;CC=c.2249+136G>A;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2255+136G>A;VC=Intron;DM=BAZ2B/MBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,T:6:6:0:0:2,4:40,139:0.00,14.20:0.00,14.20:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:17.0,63.0:0,0:0,0:75,52:75,98:53,8:-,NM_013450.2(BAZ2B) c.2255+136G>A:-,0.38:-,NOT_FOUND 2 160285660 rs10754963 T A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6665,A/0.3335;PC=0.001;Gene=BAZ2B/NM_001289975.1/0;CC=c.2249+51A>T;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.2255+51A>T;VC=Intron;DM=BAZ2B/MBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:22:0:0:8,15:264,495:23.76,0.00:20.94,0.00:2.82,0.00:0.99,0.00:1.00,0.00:0.95,0.00:60,60:52.9,4.3:0,0:0,0:51,37:94,111:31,24:NM_013450.2(BAZ2B) c.2255+51A>T,-:0.38,-:0.409725,- 2 160285772 . C . . NT END=160287373;NT GT ./. 2 160287668 . C . . NT END=160289267;NT GT ./. 2 160289875 . C . . NT END=160294813;NT GT ./. 2 160295207 . C . . NT END=160295519;NT GT ./. 2 160295297 rs2302923 C A 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5869,A/0.4131;PC=0.013;Gene=BAZ2B/NM_001289975.1/0;CC=c.895-91G>T;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.901-91G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:10:0:0:12,17:341,559:31.21,0.00:5.86,0.00:25.36,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:36.4,8.2:0,0:0,0:108,108:42,43:22,22:NM_013450.2(BAZ2B) c.901-91G>T,-:0.45,-:NOT_FOUND,- 2 160295724 . C . . NT END=160303292;NT GT ./. 2 160303487 . C . . NT END=160304752;NT GT ./. 2 160304741 rs12470533 A T 104 nt VT=SNV;PN=T;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.6569,T/0.3431;Gene=BAZ2B/NM_001289975.1/0;CC=c.496+12T>A;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.502+12T>A;VC=Intron;DM=BAZ2B/DDT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:76:68:0:0:42,34:1318,1101:0.00,103.64:0.00,78.76:0.00,24.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,34.8:0,0:0,0:52,67:97,81:34,22:-,NM_013450.2(BAZ2B) c.502+12T>A:-,0.38:-,0.418743 2 160304921 . C . . NT END=160310123;NT GT ./. 2 160310313 . C . . NT END=160335085;NT GT ./. 2 160335231 . A . . NT END=160585533;NT GT ./. 2 160335315 rs72947590 T C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.9075,C/0.09245;PC=0.008;Gene=BAZ2B/NM_001289975.1/0;CC=c.-2-83A>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.-2-83A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:29:1:0:0:1,8,20:11,249,636:0.03,21.44,0.00:-0.01,-0.07,0.00:0.04,21.51,0.00:0.00,0.98,0.00:0.00,0.52,0.00:0.00,0.98,0.00:60,60,60:11.0,31.1,8.1:0,0,0:0,0,0:6,109,124:145,41,23:0,21,20:NM_013450.2(BAZ2B) c.-2-83A>G,-:0.14,-:NOT_FOUND,- 2 160430653 rs112292807 T C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;PC=0.089;Gene=BAZ2B/NM_001289975.1/0;CC=c.-45-18277A>G;VC=Intron;Gene=BAZ2B/NM_013450.3/1;CC=c.-45-18277A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:C,T,D:6:3:0:1:4,1,1:136,33,31:14.33,0.00,2.72:9.05,0.00,0.00:5.27,0.00,2.72:0.93,0.00,0.00:0.97,0.00,0.00:0.99,0.00,0.00:60,60,60:100.0,0.0,0.0:0,0,0:0,0,0:92,127,59:58,24,59:28,0,0:NM_013450.2(BAZ2B) c.-45-18277A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 160533044 rs7595639 A G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5797,G/0.4203;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,G:4:4:0:0:1,3:20,101:0.00,10.56:0.00,8.68:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:8.0,101.3:0,0:0,0:149,12:1,125:0,0:-,chr2 g.160533043A>G (intergenic):-,0.39:-,NOT_FOUND 2 160533158 rs59570480 G A,GCACA 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=4;NP=6;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:24:A,GCACA:4:3:3:0:1,3:30,90:2.88,10.05:0.00,6.60:2.88,3.45:0.00,0.85:0.00,0.99:0.00,0.99:60,70:42.0,22.7:0,0:0,0:52,90:99,60:0,24:chr2 g.160533157G>A (intergenic),chr2 g.160533158_160533159insCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160545635 rs7590607 T C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5747,A/.,C/0.4253 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:4:4:0:0:2,2:68,68:6.55,0.00:4.86,0.00:1.69,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:34.0,0.0:0,0:0,0:33,16:116,130:18,10:chr2 g.160545634T>C (intergenic),-:0.4,-:NOT_FOUND,- 2 160562611 rs79224767 A C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=79;PC=0.003;Gene=BAZ2B/NR_110586.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:4:3:0:0:2,2:66,67:0.00,6.45:0.00,2.92:0.00,3.53:0.00,0.51:0.00,0.89:0.00,0.79:60,60:10.5,33.5:0,0:0,0:84,134:52,11:40,1:-,NM_022826.2(MARCH7) c.-122-u6399A>C:-,NOT_FOUND:-,NOT_FOUND 2 160585398 rs3732289 G C 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6482,C/0.3518;Gene=MARCH7/NM_001282805.1/1;CC=c.-14-122G>C;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.-14-122G>C;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.-14-122G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,G,T:11:11:0:0:3,7,1:96,219,11:8.37,0.00,0.32:8.37,0.00,0.32:0.00,0.00,0.00:0.60,0.00,0.00:0.60,0.00,0.00:0.00,0.00,0.00:60,60,60:32.0,0.0,212.0:0,0,0:0,0,0:72,34,58:79,117,91:5,16,0:NM_022826.2(MARCH7) c.-14-122G>C,-:0.34,-:NOT_FOUND,- 2 160585687 . G . . NT END=160589345;NT GT ./. 2 160585740 rs3821299 C A 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.6482,A/0.3518;Gene=MARCH7/NM_001282805.1/1;CC=c.153+54C>A;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+54C>A;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+54C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:24:10:0:0:15,9:435,295:43.74,0.00:11.28,0.00:32.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,13.7:0,0:0,0:80,118:70,33:33,12:NM_022826.2(MARCH7) c.153+54C>A,-:0.34,-:NOT_FOUND,- 2 160589185 rs10204867 C A 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6482,A/0.3518;Gene=MARCH7/NM_001282805.1/1;CC=c.153+3499C>A;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+3499C>A;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+3499C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:A,C:11:11:0:0:6,5:201,151:19.67,0.00:19.67,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:37.7,21.6:0,0:0,0:45,4:105,147:16,3:NM_022826.2(MARCH7) c.153+3499C>A,-:0.33,-:NOT_FOUND,- 2 160589343 rs10170336 T C 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.5118,C/0.4882;PC=0.002;Gene=MARCH7/NM_001282805.1/1;CC=c.153+3657T>C;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+3657T>C;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+3657T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:39:0:0:21,32:628,1068:57.35,0.00:25.12,0.00:32.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,7.0:0,0:0,0:94,45:57,88:29,25:NM_022826.2(MARCH7) c.153+3657T>C,-:0.44,-:NOT_FOUND,- 2 160589492 rs13022404 C A 42 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7296,A/0.2704;PC=0.296;Gene=MARCH7/NM_001282805.1/1;CC=c.153+3806C>A;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+3806C>A;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+3806C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:42:22:0:0:15,27:472,846:42.47,0.00:26.38,0.00:16.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,14.5:0,0:0,0:73,105:78,46:38,28:NM_022826.2(MARCH7) c.153+3806C>A,-:0.26,-:NOT_FOUND,- 2 160589572 . AGTTATAAT A 31 PASS VT=DEL;SST=Single;DP=30;NP=2;PC=0.090;Gene=MARCH7/NM_001282805.1/1;CC=c.153+3887_153+3894delGTTATAAT;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+3887_153+3894delGTTATAAT;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+3887_153+3894delGTTATAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTTATAAT,A:30:18:0:11:19,11:603,343:0.00,30.98:0.00,21.37:0.00,9.61:0.00,1.00:0.00,1.00:0.00,0.99:60,60:36.1,21.2:0,0:0,0:72,87:79,63:45,31:-,NM_022826.2(MARCH7) c.153+3887_153+3894delGTTATAAT:-,NOT_FOUND:-,NOT_FOUND 2 160589573 rs6761643 G T 69 idl VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.109,T/0.891;NP=357;PC=0.022;Gene=MARCH7/NM_001282805.1/1;CC=c.153+3887G>T;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+3887G>T;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+3887G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T:19:10:0:11:19:599:68.90:33.37:35.53:1.00:1.00:1.00:60:36.1:0:0:73:78:45:NM_022826.2(MARCH7) c.153+3887G>T,NM_022826.2(MARCH7) c.153+3887G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160589583 . T A 36 idl VT=SNV;PN=A;NN=T;SST=Single;DP=27;PC=0.083;Gene=MARCH7/NM_001282805.1/1;CC=c.153+3897T>A;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+3897T>A;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+3897T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:19:0:1:12,15:380,505:35.65,0.00:23.05,0.00:12.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:24.8,33.2:11,0:0,0:94,48:56,102:26,33:NM_022826.2(MARCH7) c.153+3897T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 160589610 rs540089188 CATT C 51 PASS VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=CATT/0.6482,C/0.3518;DB;DBA=NA;PAF=CATT/0.6482,C/0.3518;NP=304;Gene=MARCH7/NM_001282805.1/1;CC=c.153+3931_153+3933delATT;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+3931_153+3933delATT;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+3931_153+3933delATT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CATT,C:38:27:0:17:21,17:657,546:0.00,51.37:0.00,30.74:0.00,20.63:0.00,1.00:0.00,1.00:0.00,1.00:60,70:26.9,10.5:0,0:0,0:65,25:84,124:43,8:-,NM_022826.2(MARCH7) c.153+3925_153+3927delATT:-,0.33:-,NOT_FOUND 2 160589777 rs35196716 T G 41 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.648,G/0.352;PC=0.004;Gene=MARCH7/NM_001282805.1/1;CC=c.153+4091T>G;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+4091T>G;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+4091T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:35:21:0:0:14,21:444,647:40.83,0.00:20.73,0.00:20.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,1.6:0,0:0,0:63,62:78,89:43,41:NM_022826.2(MARCH7) c.153+4091T>G,-:0.34,-:NOT_FOUND,- 2 160589786 . t . . NT END=160590028;NT GT ./. 2 160590060 rs398104907 T TA 159 idl,rn VT=INS;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.6374,TA/0.3626;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.6374,TA/0.3626,TT/.;DB;DBA=NA;PAF=T/0.6374,TA/0.3626;NP=1;NP=1;NP=1;NP=137;NP=7;PC=0.006;Gene=MARCH7/NM_001282805.1/1;CC=c.153+4390dupA;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.153+4390dupA;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.153+4390dupA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:88:82:59:10:29,50,9:834,1860,321:0.00,158.83,22.87:0.00,113.38,18.38:0.00,45.45,4.49:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:22.9,26.0,5.6:3,9,1:0,0,0:80,65,104:70,74,45:35,35,26:-,NM_022826.2(MARCH7) c.153+4374_153+4375insA:-,NOT_FOUND:-,NOT_FOUND 2 160590594 . G . . NT END=160599571;NT GT ./. 2 160599447 rs67868976 CAAAA C 13 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CAAAA/0.6476,C/0.3524;DB;DBA=NA;PAF=CAAAA/0.6476,C/0.3524;NP=423;PC=0.012;Gene=MARCH7/NM_001282805.1/1;CC=c.154-116_154-113delAAAA;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.154-116_154-113delAAAA;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.154-116_154-113delAAAA;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.40-116_40-113delAAAA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:CAAAA,C:16:17:0:6:11,5:321,182:0.00,12.97:0.00,12.97:0.00,0.00:0.00,0.88:0.00,0.88:0.00,0.00:60,60:39.5,16.2:0,1:0,0:46,54:104,94:24,17:-,NM_022826.2(MARCH7) c.154-124_154-121delAAAA:-,NOT_FOUND:-,NOT_FOUND 2 160599765 . G . . NT END=160602280;NT GT ./. 2 160602258 rs59109898 A G 52 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.7412,G/0.2588;PC=0.974;Gene=MARCH7/NM_001282805.1/1;CC=c.347-23A>G;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.347-2058A>G;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.347-23A>G;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.233-23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:31:0:0:16,16:516,541:0.00,52.10:0.00,45.55:0.00,6.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,46.6:0,0:0,0:51,52:97,99:32,32:-,NM_022826.2(MARCH7) c.347-23A>G:-,0.32:-,0.294149 2 160602449 . G . . NT END=160604315;NT GT ./. 2 160602697 rs7567818 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.648,T/0.352;Gene=MARCH7/NM_001282805.1/1;CC=c.514+249C>T;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.347-1619C>T;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.514+249C>T;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.400+249C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:8:0:0:0:3,5:88,172:0.00,17.29:0.00,0.00:0.00,17.29:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,34.4:0,0:0,0:95,78:56,72:7,16:-,NM_022826.2(MARCH7) c.514+249C>T:-,0.34:-,NOT_FOUND 2 160604452 rs11555185 C T 140 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.7796,T/0.2204;PC=0.013;Gene=MARCH7/NM_001282805.1/1;CC=c.651C>T;ProtCh=p.D217=;VC=Silent;Gene=MARCH7/NM_001282806.1/0;CC=c.483C>T;ProtCh=p.D161=;VC=Silent;Gene=MARCH7/NM_022826.3/0;CC=c.651C>T;ProtCh=p.D217=;VC=Silent;Gene=MARCH7/NM_001282807.1/0;CC=c.537C>T;ProtCh=p.D179=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:50:0:0:36,44:1166,1426:0.00,139.68:0.00,65.16:0.00,74.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,41.5:0,0:0,0:65,68:84,83:25,36:-,NM_022826.2(MARCH7) c.651C>T (p.(=)):-,0.27:-,0.232201 2 160604812 rs1427329 C T 158 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.647,T/0.353;PC=0.086;Gene=MARCH7/NM_001282805.1/1;CC=c.1011C>T;ProtCh=p.P337=;VC=Silent;Gene=MARCH7/NM_001282806.1/0;CC=c.843C>T;ProtCh=p.P281=;VC=Silent;Gene=MARCH7/NM_022826.3/0;CC=c.1011C>T;ProtCh=p.P337=;VC=Silent;Gene=MARCH7/NM_001282807.1/0;CC=c.897C>T;ProtCh=p.P299=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:54:0:0:56,51:1640,1657:0.00,157.90:0.00,75.74:0.00,82.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,38.5:0,0:0,0:84,76:66,75:32,45:-,NM_022826.2(MARCH7) c.1011C>T (p.(=)):-,0.34:-,0.355605 2 160605268 rs1365803 T C 485 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=141;DB;DBA=NA;PAF=T/0.1084,C/0.8916;PC=0.734;Gene=MARCH7/NM_001282805.1/1;CC=c.1467T>C;ProtCh=p.P489=;VC=Silent;Gene=MARCH7/NM_001282806.1/0;CC=c.1299T>C;ProtCh=p.P433=;VC=Silent;Gene=MARCH7/NM_022826.3/0;CC=c.1467T>C;ProtCh=p.P489=;VC=Silent;Gene=MARCH7/NM_001282807.1/0;CC=c.1353T>C;ProtCh=p.P451=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:141:74:0:0:140,1:4193,5:485.17,0.02:216.26,0.02:268.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,68.0:1,0:0,0:74,106:74,45:37,0:NM_022826.2(MARCH7) c.1467T>C (p.(=)),NM_022826.2(MARCH7) c.1467T>C (p.(=)):0.89,0.89:0.928264,0.928264 2 160605415 . G . . NT END=160608912;NT GT ./. 2 160605488 rs371758273 TC T 22 nt VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=TC/0.5236,T/0.4764;Gene=MARCH7/NM_001282805.1/1;CC=c.1613+75delC;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1445+75delC;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.1613+75delC;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1499+75delC;VC=Intron;DM=MARCH7/RINGv;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:TC,T:50:17:0:12:41,9:1276,282:0.00,22.27:0.00,2.18:0.00,20.09:0.00,0.98:0.00,0.93:0.00,1.00:60,60:53.9,52.7:2,0:0,0:131,88:17,63:13,14:-,NM_022826.2(MARCH7) c.1613+75delC:-,0.89:-,NOT_FOUND 2 160605489 rs10929950 C T 140 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8794,T/0.1206;Gene=MARCH7/NM_001282805.1/1;CC=c.1613+75C>T;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1445+75C>T;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.1613+75C>T;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1499+75C>T;VC=Intron;DM=MARCH7/RINGv GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:T:39:12:0:14:39:1212:139.73:31.69:108.04:1.00:1.00:1.00:60:53.7:2:0:136:15:10:NM_022826.2(MARCH7) c.1613+75C>T,NM_022826.2(MARCH7) c.1613+75C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 160605498 rs4665112 T C 51 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7919,C/0.2081;NP=312;PC=0.007;Gene=MARCH7/NM_001282805.1/1;CC=c.1613+84T>C;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1445+84T>C;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.1613+84T>C;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1499+84T>C;VC=Intron;DM=MARCH7/RINGv GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,I:40:8:1:0:16,23,1:547,703,34:50.88,0.00,2.02:-1.32,0.00,-0.07:52.20,0.00,2.09:1.00,0.00,0.00:0.97,0.00,0.00:1.00,0.00,0.00:60,60,60:68.4,53.4,34.0:0,2,0:0,0,0:104,127,83:47,15,68:33,20,0:NM_022826.2(MARCH7) c.1613+84T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 160609083 . G . . NT END=160615736;NT GT ./. 2 160615847 . G . . NT END=160619390;NT GT ./. 2 160619233 rs7569562 T G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1078,G/0.8922;Gene=MARCH7/NM_001282805.1/1;CC=c.1894-158T>G;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1726-158T>G;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.1894-158T>G;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1780-158T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:224:25.73:25.73:0.00:1.00:1.00:0.00:60:50.4:0:0:50:101:32:NM_022826.2(MARCH7) c.1894-158T>G,NM_022826.2(MARCH7) c.1894-158T>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 160619505 . G . . NT END=160621136;NT GT ./. 2 160620848 rs3764969 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6448,A/0.3552;PC=0.080;Gene=MARCH7/NM_001282805.1/1;CC=c.2008-289G>A;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1839+1344G>A;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.2008-289G>A;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1894-289G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:A,G:4:3:0:0:3,1:102,13:10.68,0.00:5.15,0.00:5.53,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,60:64.7,28.0:0,0:0,0:115,42:35,108:11,0:NM_022826.2(MARCH7) c.2008-289G>A,-:0.34,-:NOT_FOUND,- 2 160621186 . G . . NT END=160623794;NT GT ./. 2 160621354 rs5835760 G GT 19 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.4373,GT/0.5627;DB;DBA=NA;PAF=G/0.4373,GT/0.5627;DB;DBA=NA;PAF=G/0.4373,GT/0.5627;NP=580;PC=0.008;Gene=MARCH7/NM_001282805.1/1;CC=c.2056+180dupT;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1839+1861dupT;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.2056+180dupT;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1942+180dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:G,GT:8:0:6:0:2,6:63,180:0.00,18.91:0.00,0.00:0.00,18.91:0.00,1.00:0.00,0.00:0.00,1.00:60,70:10.0,20.7:0,0:0,0:144,66:6,79:3,11:-,NM_022826.2(MARCH7) c.2056+169_2056+170insT:-,NOT_FOUND:-,NOT_FOUND 2 160621412 rs398104908 C CT 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6695,CT/0.3305;DB;DBA=NA;PAF=C/0.6695,CT/0.3305;NP=88;PC=0.002;Gene=MARCH7/NM_001282805.1/1;CC=c.2056+237dupT;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1839+1918dupT;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.2056+237dupT;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1942+237dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,CT:8:0:4:0:4,4:135,125:0.00,12.00:0.00,0.00:0.00,12.00:0.00,0.87:0.00,0.00:0.00,0.87:70,60:19.8,0.0:0,0:0,0:115,71:29,79:17,52:-,NM_022826.2(MARCH7) c.2056+227_2056+228insT:-,NOT_FOUND:-,NOT_FOUND 2 160623590 rs12617546 G A 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.648,A/0.352;Gene=MARCH7/NM_001282805.1/1;CC=c.2057-205G>A;VC=Intron;Gene=MARCH7/NM_001282806.1/0;CC=c.1840-205G>A;VC=Intron;Gene=MARCH7/NM_022826.3/0;CC=c.2057-205G>A;VC=Intron;Gene=MARCH7/NM_001282807.1/0;CC=c.1943-205G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:10:10:0:0:6,4:192,89:19.18,0.00:19.18,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:41.5,15.2:0,0:0,0:25,77:125,74:18,24:NM_022826.2(MARCH7) c.2057-205G>A,-:0.34,-:NOT_FOUND,- 2 160623864 . G . . NT END=160628361;NT GT ./. 2 160628209 rs398080758 CTT C 14 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CTT/0.7812,C/0.2188;DB;DBA=NA;PAF=CTT/0.7812,C/0.2188;NP=412;PC=0.031;Gene=CD302/NM_001198763.1/0;CC=c.*151_*152delAA;VC=3UTR;Gene=CD302/NM_001198764.1/0;CC=c.*151_*152delAA;VC=3UTR;Gene=CD302/NM_014880.4/1;CC=c.*151_*152delAA;VC=3UTR;Gene=LY75-CD302/NM_001198759.1/1;CC=c.*151_*152delAA;VC=3UTR;Gene=LY75-CD302/NM_001198760.1/0;CC=c.*151_*152delAA;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:CTT,C:14:14:0:5:9,5:275,152:0.00,13.63:0.00,13.63:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:9.1,9.4:0,0:0,0:26,30:125,121:11,24:-,NM_001198759.1(LY75-CD302) c.*149A[2]:-,0.27:-,NOT_FOUND 2 160628565 . C . . NT END=160634448;NT GT ./. 2 160634240 rs35481084 G A 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5563,A/0.4437;Gene=CD302/NM_001198763.1/0;CC=c.322+209C>T;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.385+209C>T;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.496+209C>T;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5419+209C>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5251+209C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:8,9:248,225:23.57,0.00:23.57,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:31.0,10.4:0,0:0,0:31,24:119,127:28,24:NM_001198759.1(LY75-CD302) c.5419+209C>T,-:0.47,-:NOT_FOUND,- 2 160634476 . C . . NT END=160636515;NT GT ./. 2 160634564 rs5835761 ACC A 33 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=ACC/0.648,A/0.352;NP=386;Gene=CD302/NM_001198763.1/0;CC=c.296-91_296-90delGG;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.359-91_359-90delGG;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.470-91_470-90delGG;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5393-91_5393-90delGG;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5225-91_5225-90delGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACC,A:35:10:0:12:23,12:711,372:0.00,33.15:0.00,5.24:0.00,27.91:0.00,1.00:0.00,0.97:0.00,1.00:60,60:8.0,6.8:0,0:0,0:125,79:26,71:20,46:-,NM_001198759.1(LY75-CD302) c.5393-91_5393-90delGG:-,0.34:-,0.286903 2 160634582 rs33980712 TAATATC T 34 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=TAATATC/0.648,T/0.352;DB;DBA=NA;PAF=TAATATC/0.648,T/0.352;NP=196;Gene=CD302/NM_001198763.1/0;CC=c.296-113_296-108delGATATT;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.359-113_359-108delGATATT;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.470-113_470-108delGATATT;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5393-113_5393-108delGATATT;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5225-113_5225-108delGATATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAATATC,T:28:4:0:12:16,12:478,364:0.00,33.84:0.00,4.87:0.00,28.97:0.00,1.00:0.00,0.89:0.00,1.00:60,60:6.8,6.1:0,0:0,0:106,81:44,70:24,26:-,NM_001198759.1(LY75-CD302) c.5393-113_5393-108delGATATT:-,0.33:-,NOT_FOUND 2 160634701 rs67300624 T G 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7406,G/0.2594;PC=0.046;Gene=CD302/NM_001198763.1/0;CC=c.296-226A>C;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.359-226A>C;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.470-226A>C;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5393-226A>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5225-226A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:G,T:10:0:0:0:6,4:205,109:20.45,0.00:0.00,0.00:20.45,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:64.5,12.0:0,0:0,0:85,129:65,21:20,12:NM_001198759.1(LY75-CD302) c.5393-226A>C,-:0.32,-:NOT_FOUND,- 2 160634721 rs10460300 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5567,T/0.4433;Gene=CD302/NM_001198763.1/0;CC=c.296-246G>A;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.359-246G>A;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.470-246G>A;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5393-246G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5225-246G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:7:0:0:0:2,5:48,170:0.00,17.57:0.00,0.00:0.00,17.57:0.00,0.98:0.00,0.00:0.00,0.98:60,60:24.0,68.6:0,0:0,0:112,95:37,56:29,21:-,NM_001198759.1(LY75-CD302) c.5393-246G>A:-,0.47:-,NOT_FOUND 2 160636330 rs34695240 G GTCT 21 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.7792,GTCT/0.2208;NP=168;PC=0.219;Gene=CD302/NM_001198763.1/0;CC=c.295+1062_295+1063insAGA;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.358+185_358+186insAGA;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.469+185_469+186insAGA;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5392+185_5392+186insAGA;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5224+185_5224+186insAGA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTCT:20:20:7:0:13,7:421,233:0.00,21.02:0.00,21.02:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.7,0.0:0,0:0,0:43,54:108,97:12,10:-,NM_001198759.1(LY75-CD302) c.5392+185_5392+186insAGA:-,0.27:-,NOT_FOUND 2 160636690 . C . . NT END=160637392;NT GT ./. 2 160636908 rs3771718 A G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6478,G/0.3522;PC=0.001;Gene=CD302/NM_001198763.1/0;CC=c.295+485T>C;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.185-219T>C;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.296-219T>C;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5219-219T>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5051-219T>C;VC=Intron;DM=CD302/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:6:0:0:0:3,3:101,99:0.00,9.52:0.00,0.00:0.00,9.52:0.00,0.73:0.00,0.00:0.00,0.73:60,60:7.3,58.7:0,0:0,0:83,92:68,59:17,13:-,NM_001198759.1(LY75-CD302) c.5219-219T>C:-,0.34:-,NOT_FOUND 2 160637267 rs2303552 C A 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7812,A/0.2188;Gene=CD302/NM_001198763.1/0;CC=c.295+126G>T;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.184+126G>T;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.295+126G>T;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5218+126G>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5050+126G>T;VC=Intron;DM=CD302/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:17:0:0:8,9:229,299:21.58,0.00:21.58,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:57.8,42.6:0,0:0,0:64,28:86,123:29,13:NM_001198759.1(LY75-CD302) c.5218+126G>T,-:0.27,-:NOT_FOUND,- 2 160637324 rs2303551 A G 119 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.09824,G/0.9018;PC=0.011;Gene=CD302/NM_001198763.1/0;CC=c.295+69T>C;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.184+69T>C;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.295+69T>C;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5218+69T>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.5050+69T>C;VC=Intron;DM=CD302/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:33:0:0:34:1034:119.42:115.34:4.08:1.00:1.00:1.00:60:54.9:0:0:44:99:30:NM_001198759.1(LY75-CD302) c.5218+69T>C,NM_001198759.1(LY75-CD302) c.5218+69T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 2 160637510 . C . . NT END=160639869;NT GT ./. 2 160637621 rs2303550 G A 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.648,A/0.352;PC=0.011;Gene=CD302/NM_001198763.1/0;CC=c.179-112C>T;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.68-112C>T;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.179-112C>T;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5102-112C>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4934-112C>T;VC=Intron;DM=CD302/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:0:0:0:12,18:375,609:34.45,0.00:0.00,0.00:34.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.8,1.3:0,0:0,0:116,109:35,40:19,18:NM_001198759.1(LY75-CD302) c.5102-112C>T,-:0.34,-:NOT_FOUND,- 2 160639970 rs2114626 T C 65 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.6478,C/0.3522;PC=0.837;Gene=CD302/NM_001198763.1/0;CC=c.78A>G;ProtCh=p.S26=;VC=Silent;Gene=CD302/NM_001198764.1/0;CC=c.68-2461A>G;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.78A>G;ProtCh=p.S26=;VC=Silent;Gene=LY75-CD302/NM_001198759.1/1;CC=c.5001A>G;ProtCh=p.S1667=;VC=Silent;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4833A>G;ProtCh=p.S1611=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:29:0:0:21,22:683,718:65.33,0.00:36.96,0.00:28.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,1.9:0,0:0,0:109,85:39,58:14,29:NM_001198759.1(LY75-CD302) c.5001A>G (p.(=)),-:0.34,-:0.352145,- 2 160639981 . C . . NT END=160654642;NT GT ./. 2 160640151 rs3815876 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4599,T/0.5401;Gene=CD302/NM_001198763.1/0;CC=c.68-171G>A;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.68-2642G>A;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.68-171G>A;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4991-171G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4823-171G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,T:12:0:0:0:7,5:242,167:0.00,15.55:0.00,0.00:0.00,15.55:0.00,0.92:0.00,0.00:0.00,0.92:60,60:1.4,33.4:0,0:0,0:85,113:66,37:31,7:-,NM_001198759.1(LY75-CD302) c.4991-171G>A:-,0.56:-,NOT_FOUND 2 160654524 rs2556106 G T 86 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.2554,T/0.7446;Gene=CD302/NM_001198763.1/0;CC=c.67+119C>A;VC=Intron;Gene=CD302/NM_001198764.1/0;CC=c.67+119C>A;VC=Intron;Gene=CD302/NM_014880.4/1;CC=c.67+119C>A;VC=Intron;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4990+8960C>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+10436C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:26:0:0:26:740:86.25:82.97:3.28:1.00:1.00:1.00:60:35.9:0:0:19:130:15:NM_001198759.1(LY75-CD302) c.4990+8960C>A,NM_001198759.1(LY75-CD302) c.4990+8960C>A:0.76,0.76:NOT_FOUND,NOT_FOUND 2 160654767 . c . . NT END=160661554;NT GT ./. 2 160655122 rs2556102 C T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7212,T/0.2788;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4990+8362G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+9838G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T:7:0:0:0:4,3:111,101:0.00,9.46:0.00,0.00:0.00,9.46:0.00,0.69:0.00,0.00:0.00,0.69:60,60:17.8,33.7:0,0:0,0:97,106:52,45:13,1:-,NM_001198759.1(LY75-CD302) c.4990+8362G>A:-,0.28:-,NOT_FOUND 2 160661734 . C . . NT END=160663483;NT GT ./. 2 160663435 rs12463589 T C 90 nt VT=SNV;PN=T;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.7346,C/0.2654;PC=0.752;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4990+49A>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+1525A>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4990+49A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:64:0:0:29,47:977,1465:89.62,0.00:67.31,0.00:22.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.9,9.4:0,0:0,0:52,40:99,106:19,25:NM_001198759.1(LY75-CD302) c.4990+49A>G,-:0.32,-:0.300477,- 2 160663652 . C . . NT END=160664187;NT GT ./. 2 160663678 rs7566887 T C 280 nt VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.3944,C/0.6056;PC=0.030;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4823-27A>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+1282A>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4823-27A>G;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:81:31:0:0:1,79,1:12,2455,34:0.18,280.36,0.00:-0.01,74.74,0.00:0.18,205.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:32.0,35.4,130.0:0,0,0:0,0,0:131,99,100:19,46,40:0,25,0:NM_001198759.1(LY75-CD302) c.4823-27A>G,NM_001198759.1(LY75-CD302) c.4823-27A>G:0.64,0.64:0.692911,0.692911 2 160664041 rs2556087 A G 87 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.1082,G/0.8918;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4823-390T>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+919T>C;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4823-390T>C;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:G:27:24:0:0:27:742:86.80:70.20:16.60:1.00:1.00:1.00:60:42.3:0:0:62:89:32:NM_001198759.1(LY75-CD302) c.4823-390T>C,NM_001198759.1(LY75-CD302) c.4823-390T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 160664459 rs2114630 A G 311 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.1082,G/0.8918;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4822+501T>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+501T>C;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4822+501T>C;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:40:0:0:84:2711:310.91:104.77:206.13:1.00:1.00:1.00:60:50.4:0:0:97:52:36:NM_001198759.1(LY75-CD302) c.4822+501T>C,NM_001198759.1(LY75-CD302) c.4822+501T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 160664518 rs1346326 G A 208 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.1084,A/0.8916;PC=0.059;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4822+442C>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+442C>T;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4822+442C>T;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:A:58:31:0:0:58:1802:207.71:90.56:117.15:1.00:1.00:1.00:60:62.0:0:0:73:74:36:NM_001198759.1(LY75-CD302) c.4822+442C>T,NM_001198759.1(LY75-CD302) c.4822+442C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 160664678 . A . . NT END=160664959;NT GT ./. 2 160664697 rs1346327 A G 161 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.3944,G/0.6056;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4822+263T>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4822+263T>C;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4822+263T>C;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:G:44:22:0:0:44:1402:161.15:59.64:101.50:1.00:1.00:1.00:60:44.1:0:0:93:57:28:NM_001198759.1(LY75-CD302) c.4822+263T>C,NM_001198759.1(LY75-CD302) c.4822+263T>C:0.64,0.64:NOT_FOUND,NOT_FOUND 2 160665097 . C . . NT END=160667036;NT GT ./. 2 160665278 rs1549577 C T 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.3954,T/0.6046;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4700-196G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4700-196G>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4700-196G>A;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:0:0:0:29:905:104.27:0.00:104.27:1.00:0.00:1.00:60:39.9:0:0:103:47:42:NM_001198759.1(LY75-CD302) c.4700-196G>A,NM_001198759.1(LY75-CD302) c.4700-196G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 2 160665403 rs4516379 C T 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7234,T/0.2766;PC=0.012;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4700-321G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4700-321G>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4700-321G>A;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:8:0:0:0:5,3:113,100:0.00,9.15:0.00,0.00:0.00,9.15:0.00,0.67:0.00,0.00:0.00,0.67:60,60:48.4,51.7:0,0:0,0:78,127:69,24:4,1:-,NM_001198759.1(LY75-CD302) c.4700-321G>A:-,0.26:-,NOT_FOUND 2 160667187 . C . . NT END=160671915;NT GT ./. 2 160671668 rs1968344 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4235,C/0.5765;PC=0.001;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4549+248A>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4549+248A>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4549+248A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,C,T:8:8:0:0:1,5,2:25,163,67:1.96,16.81,0.00:1.96,15.08,0.00:0.00,1.74,0.00:0.00,0.97,0.00:0.00,0.97,0.00:0.00,0.75,0.00:60,60,60:111.0,44.2,0.0:0,0,0:0,0,0:0,36,46:140,115,104:0,24,34:NM_001198759.1(LY75-CD302) c.4549+248A>G,-:0.6,-:NOT_FOUND,- 2 160672099 . A . . NT END=160673316;NT GT ./. 2 160672235 rs7577691 T A 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.6861,A/0.3139;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4381-151A>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4381-151A>T;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4381-151A>T;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:35:0:0:0:13,22:405,729:36.67,0.00:0.00,0.00:36.67,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.7,1.1:0,0:0,0:97,96:54,55:22,33:NM_001198759.1(LY75-CD302) c.4381-151A>T,-:0.35,-:NOT_FOUND,- 2 160672365 rs2114631 C T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6861,G/.,T/0.3139;PC=0.521;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4381-281G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4381-281G>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.4381-281G>A;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T:4:0:0:0:2,2:56,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,35.0:0,0:0,0:79,79:72,70:69,11:-,NM_001198759.1(LY75-CD302) c.4381-281G>A:-,0.35:-,NOT_FOUND 2 160673526 rs2059696 A G 144 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=108;DB;DBA=NA;PAF=A/0.7943,G/0.2057;PC=0.991;Gene=LY75-CD302/NM_001198759.1/1;CC=c.4171T>C;ProtCh=p.Y1391H;VC=Missense;Gene=LY75-CD302/NM_001198760.1/0;CC=c.4171T>C;ProtCh=p.Y1391H;VC=Missense;Gene=LY75/NM_002349.3/1;CC=c.4171T>C;ProtCh=p.Y1391H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:108:52:0:0:62,46:1911,1541:0.00,144.09:0.00,44.94:0.00,99.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,41.2:0,0:0,0:86,92:63,58:35,30:-,NM_001198759.1(LY75-CD302) c.4171T>C (p.Tyr1391His):-,0.25:-,0.22751 2 160673558 . A . . NT END=160676236;NT GT ./. 2 160676427 rs12692566 C A 290 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=C/0.1546,A/0.8454;PC=0.998;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3963G>T;ProtCh=p.K1321N;VC=Missense;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3963G>T;ProtCh=p.K1321N;VC=Missense;Gene=LY75/NM_002349.3/1;CC=c.3963G>T;ProtCh=p.K1321N;VC=Missense;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:25:0:0:78:2525:289.60:65.46:224.15:1.00:1.00:1.00:60:40.6:0:0:102:45:33:NM_001198759.1(LY75-CD302) c.3963G>T (p.Lys1321Asn),NM_001198759.1(LY75-CD302) c.3963G>T (p.Lys1321Asn):0.86,0.86:0.848692,0.848692 2 160676445 rs60586916 A AT 181 rn VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.2109,AC/.,AT/0.7208,ATT/0.06829;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2109,AT/0.7208,ATT/0.06829;NP=154;NP=2557;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3959-15dupA;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3959-15dupA;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3959-15dupA;VC=Intron;DM=LY75/Lectin_C;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,AT:62:19:54:0:9,53:297,1694:0.00,181.40:0.00,39.37:0.00,142.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.9,43.2:1,1:0,0:143,87:7,54:1,33:-,NM_001198759.1(LY75-CD302) c.3959-15_3959-14insA:-,NOT_FOUND:-,0.706527 2 160676446 . T . . NT END=160688180;NT GT ./. 2 160688312 . A . . NT END=160690554;NT GT ./. 2 160688351 rs6755783 C T 70 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.6524,T/0.3476;PC=0.003;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3842-54G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3842-54G>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3842-54G>A;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:14:0:0:27,23:857,737:0.00,69.68:0.00,8.95:0.00,60.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,42.9:0,0:0,0:81,67:59,83:39,27:-,NM_001198759.1(LY75-CD302) c.3842-54G>A:-,0.39:-,NOT_FOUND 2 160688557 rs16844380 G T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7911,T/0.2089;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3842-260C>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3842-260C>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3842-260C>A;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T:5:0:0:0:1,4:34,132:0.00,14.02:0.00,0.00:0.00,14.02:0.00,0.96:0.00,0.00:0.00,0.96:60,60:11.0,34.8:0,0:0,0:139,83:12,68:0,16:-,NM_001198759.1(LY75-CD302) c.3842-260C>A:-,0.21:-,NOT_FOUND 2 160690737 . A . . NT END=160691990;NT GT ./. 2 160691829 rs2303547 C T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7438,T/0.2562;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3673+162G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3673+162G>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3673+162G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:17:0:0:10,7:333,215:0.00,19.84:0.00,19.84:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:7.2,40.3:0,0:0,0:28,37:122,114:21,37:-,NM_001198759.1(LY75-CD302) c.3673+162G>A:-,0.32:-,NOT_FOUND 2 160692157 . C . . NT END=160697239;NT GT ./. 2 160697481 . A . . NT END=160698755;NT GT ./. 2 160697636 rs11690117 G T 195 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.4054,T/0.5946;PC=0.005;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3281-170C>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3281-170C>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3281-170C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:T:53:3:0:0:53:1695:194.77:5.95:188.82:1.00:1.00:1.00:60:37.1:0:0:93:57:32:NM_001198759.1(LY75-CD302) c.3281-170C>A,NM_001198759.1(LY75-CD302) c.3281-170C>A:0.62,0.62:NOT_FOUND,NOT_FOUND 2 160698618 rs41265131 G A 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.883,A/0.117;PC=0.017;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3280+138C>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3280+138C>T;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3280+138C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:11,9:348,264:34.09,0.00:34.09,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:73.6,1.3:0,0:0,0:47,62:104,88:25,14:NM_001198759.1(LY75-CD302) c.3280+138C>T,-:0.17,-:NOT_FOUND,- 2 160698700 rs41265133 A C 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.4475,C/0.5525;PC=0.005;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3280+56T>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3280+56T>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3280+56T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:39:36:0:0:18,21:490,682:0.00,66.57:0.00,56.20:0.00,10.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,63.0:1,0:0,0:48,67:103,84:25,41:-,NM_001198759.1(LY75-CD302) c.3280+56T>G:-,0.58:-,NOT_FOUND 2 160698886 . C . . NT END=160706490;NT GT ./. 2 160699166 rs61010155 C A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7434,A/0.2566;Gene=LY75-CD302/NM_001198759.1/1;CC=c.3151-281G>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.3151-281G>T;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.3151-281G>T;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:A,C:10:0:0:0:4,6:136,176:12.59,0.00:0.00,0.00:12.59,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:34.0,33.0:0,0:0,0:121,102:29,49:12,23:NM_001198759.1(LY75-CD302) c.3151-281G>T,-:0.32,-:NOT_FOUND,- 2 160706652 . C . . NT END=160706872;NT GT ./. 2 160706979 . C . . NT END=160708711;NT GT ./. 2 160708446 rs2556086 C A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4828,A/0.5172;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2883+266G>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2883+266G>T;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.2883+266G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,C:11:11:0:0:5,6:168,196:15.89,0.00:15.89,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:50.6,2.0:0,0:0,0:59,51:86,99:40,34:NM_001198759.1(LY75-CD302) c.2883+266G>T,-:0.56,-:NOT_FOUND,- 2 160708852 . C . . NT END=160709783;NT GT ./. 2 160708923 rs78595444 GT G 48 rn VT=DEL;SST=Single;DP=89;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1503;PC=0.004;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2744-73delA;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2744-73delA;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.2744-73delA;VC=Intron;DM=LY75/Lectin_C;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:89:32:0:19:70,19:2247,590:0.00,48.03:0.00,21.45:0.00,26.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,4.8:0,0:0,0:119,121:27,22:22,12:-,NM_001198759.1(LY75-CD302) c.2744-73delA:-,0.54:-,NOT_FOUND 2 160708930 . TTTG T 47 sb,nt VT=DEL;SST=Single;DP=85;NP=32;PC=0.003;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2744-82_2744-80delCAA;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2744-82_2744-80delCAA;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.2744-82_2744-80delCAA;VC=Intron;DM=LY75/Lectin_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTG,T:85:29:0:20:66,19:2078,576:0.00,47.06:0.00,1.05:0.00,46.01:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.0,18.2:29,0:0,0:127,87:17,63:20,36:-,NM_001198759.1(LY75-CD302) c.2744-82_2744-80delCAA:-,NOT_FOUND:-,NOT_FOUND 2 160708935 . T G 47 sb;idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;PC=0.006;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2744-84A>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2744-84A>C;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.2744-84A>C;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:71:23:0:2:18,53:563,1691:47.44,0.00:-0.32,0.00:47.76,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,70:21.1,7.5:18,6:0,0:104,126:46,17:25,19:NM_001198759.1(LY75-CD302) c.2744-84A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 160709878 . C . . NT END=160710140;NT GT ./. 2 160710223 . A . . NT END=160710870;NT GT ./. 2 160710922 rs2729705 T C 178 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.4776,C/0.5224;PC=0.527;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2544A>G;ProtCh=p.A848=;VC=Silent;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2544A>G;ProtCh=p.A848=;VC=Silent;Gene=LY75/NM_002349.3/1;CC=c.2544A>G;ProtCh=p.A848=;VC=Silent;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:99:84:0:0:57,42:1806,1377:178.42,0.00:124.45,0.00:53.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,11.8:0,0:0,0:71,48:74,96:27,33:NM_001198759.1(LY75-CD302) c.2544A>G (p.(=)),-:0.56,-:0.615562,- 2 160711045 rs3951216 G C 135 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.4341,C/0.5659;PC=1.000;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2421C>G;ProtCh=p.D807E;VC=Missense;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2421C>G;ProtCh=p.D807E;VC=Missense;Gene=LY75/NM_002349.3/1;CC=c.2421C>G;ProtCh=p.D807E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:102:47:0:0:47,55:1437,1653:135.49,0.00:48.29,0.00:87.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,13.1:1,0:0,0:98,76:50,69:27,29:NM_001198759.1(LY75-CD302) c.2421C>G (p.Asp807Glu),-:0.52,-:0.421575,- 2 160711061 . G . . NT END=160711414;NT GT ./. 2 160711248 rs975491 T C 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.1292,C/0.8708;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2419+167A>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2419+167A>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.2419+167A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:16:0:0:15,16:475,456:45.36,0.00:32.10,0.00:13.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,10.6:0,0:0,0:74,44:77,107:56,36:NM_001198759.1(LY75-CD302) c.2419+167A>G,-:0.88,-:NOT_FOUND,- 2 160711465 . A . . NT END=160714872;NT GT ./. 2 160711556 rs975490 T G 58 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.1298,G/0.8702;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2384-106A>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2384-106A>C;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.2384-106A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:9:0:0:17,17:599,553:57.78,0.00:5.75,0.00:52.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,4.5:0,0:0,0:99,124:52,27:32,14:NM_001198759.1(LY75-CD302) c.2384-106A>C,-:0.88,-:NOT_FOUND,- 2 160714615 rs10929956 C T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.516,T/0.484;PC=0.003;Gene=LY75-CD302/NM_001198759.1/1;CC=c.2383+258G>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.2383+258G>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.2383+258G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,T:11:11:0:0:5,6:170,198:0.00,19.37:0.00,19.37:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,43.2:0,0:0,0:41,44:108,106:25,28:-,NM_001198759.1(LY75-CD302) c.2383+258G>A:-,0.45:-,NOT_FOUND 2 160715002 . G . . NT END=160717331;NT GT ./. 2 160717415 . G . . NT END=160721349;NT GT ./. 2 160721446 . A . . NT END=160728961;NT GT ./. 2 160729119 . A . . NT END=160731954;NT GT ./. 2 160729134 rs1397705 A C 110 nt VT=SNV;PN=T;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.1292,C/0.8708;PC=0.969;Gene=LY75-CD302/NM_001198759.1/1;CC=c.1975-30T>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.1975-30T>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.1975-30T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:73:26:0:0:38,35:1218,1150:0.00,109.72:0.00,37.80:0.00,71.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,49.0:0,0:0,0:110,105:41,46:19,25:-,NM_001198759.1(LY75-CD302) c.1975-30T>G:-,0.88:-,0.855759 2 160729186 rs10168271 T C 64 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4968,C/0.5032;Gene=LY75-CD302/NM_001198759.1/1;CC=c.1975-82A>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.1975-82A>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.1975-82A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:40:9:0:0:1,21,18:13,656,591:0.18,63.93,0.00:-0.01,14.51,0.00:0.19,49.41,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.0,58.3,5.2:0,0,0:0,0,0:19,119,86:132,32,64:0,25,28:NM_001198759.1(LY75-CD302) c.1975-82A>G,-:0.47,-:NOT_FOUND,- 2 160732169 . G . . NT END=160734834;NT GT ./. 2 160734582 rs139165677 G T 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9944,T/0.005591;NP=1;NP=18;Gene=LY75-CD302/NM_001198759.1/1;CC=c.1774+253C>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.1774+253C>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.1774+253C>A;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:G,T:13:13:0:0:7,6:217,181:0.00,17.07:0.00,17.07:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:15.7,35.2:0,0:0,0:69,23:82,127:34,17:-,NM_001198759.1(LY75-CD302) c.1774+253C>A:-,0.01:-,NOT_FOUND 2 160735005 . C . . NT END=160735143;NT GT ./. 2 160735233 . C . . NT END=160735769;NT GT ./. 2 160735895 . A . . NT END=160737593;NT GT ./. 2 160737495 rs2729712 A C 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.1308,C/0.8692;Gene=LY75-CD302/NM_001198759.1/1;CC=c.1404+99T>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.1404+99T>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.1404+99T>G;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:31:31:0:0:15,16:463,470:0.00,45.30:0.00,43.61:0.00,1.69:0.00,1.00:0.00,1.00:0.00,0.81:60,60:0.7,76.6:0,0:0,0:77,58:74,92:36,18:-,NM_001198759.1(LY75-CD302) c.1404+99T>G:-,0.88:-,NOT_FOUND 2 160737560 rs2729711 G T 112 nt VT=SNV;PN=G;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.1673,C/.,T/0.8327;PC=0.008;Gene=LY75-CD302/NM_001198759.1/1;CC=c.1404+34C>A;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.1404+34C>A;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.1404+34C>A;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:67:60:0:0:30,37:950,1145:0.00,112.12:0.00,87.41:0.00,24.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,57.1:0,0:0,0:45,41:106,104:19,26:-,NM_001198759.1(LY75-CD302) c.1404+34C>A:-,0.86:-,0.819391 2 160737766 . T . . NT END=160738634;NT GT ./. 2 160737857 rs397826060 T TGTA 42 nt VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.7536,TGTA/0.2464;DB;DBA=NA;PAF=T/0.7536,TGTA/0.2464;NP=793;Gene=LY75-CD302/NM_001198759.1/1;CC=c.1247-109_1247-107dupTAC;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.1247-109_1247-107dupTAC;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.1247-109_1247-107dupTAC;VC=Intron;DM=LY75/Lectin_C;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TGTA:47:10:15:0:1,31,15:29,1012,471:1.42,0.00,41.64:-0.04,0.00,5.35:1.46,0.00,36.29:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:29.0,12.2,4.7:0,0,0:0,0,0:0,112,88:150,37,62:0,30,15:-,NM_001198759.1(LY75-CD302) c.1247-107_1247-106insTAC:-,0.21:-,NOT_FOUND 2 160738841 . G . . NT END=160741663;NT GT ./. 2 160741805 . C . . NT END=160742930;NT GT ./. 2 160742771 rs2666986 A G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.6352,G/0.3648;PC=0.001;Gene=LY75-CD302/NM_001198759.1/1;CC=c.913+160T>C;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.913+160T>C;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.913+160T>C;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:14:0:0:7,7:228,239:0.00,23.03:0.00,23.03:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.4,40.6:0,0:0,0:41,50:110,99:23,40:-,NM_001198759.1(LY75-CD302) c.913+160T>C:-,0.32:-,NOT_FOUND 2 160743040 rs2271381 T A 126 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.7646,A/0.2354;PC=0.984;Gene=LY75-CD302/NM_001198759.1/1;CC=c.804A>T;ProtCh=p.E268D;VC=Missense;Gene=LY75-CD302/NM_001198760.1/0;CC=c.804A>T;ProtCh=p.E268D;VC=Missense;Gene=LY75/NM_002349.3/1;CC=c.804A>T;ProtCh=p.E268D;VC=Missense;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:93:63:0:0:41,52:1340,1677:125.86,0.00:58.42,0.00:67.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,9.8:0,0:0,0:73,96:72,52:33,34:NM_001198759.1(LY75-CD302) c.804A>T (p.Glu268Asp),-:0.2,-:0.196525,- 2 160743042 . C . . NT END=160746723;NT GT ./. 2 160743722 rs60776463 T TCA 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=22;Gene=LY75-CD302/NM_001198759.1/1;CC=c.803-682_803-681insTG;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.803-682_803-681insTG;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.803-682_803-681insTG;VC=Intron;DM=LY75/Lectin_C;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:T,TCA,D:7:7:3:1:3,3,1:81,99,33:0.00,9.50,2.73:0.00,7.99,2.80:0.00,1.51,-0.07:0.00,0.69,0.00:0.00,0.69,0.00:0.00,0.83,0.00:60,60,60:9.3,29.3,0.0:0,0,0:0,0,0:61,35,65:57,113,82:45,17,0:-,NM_001198759.1(LY75-CD302) c.803-682_803-681insTG:-,NOT_FOUND:-,NOT_FOUND 2 160743793 rs12692572 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5066,A/0.4934;PC=0.006;Gene=LY75-CD302/NM_001198759.1/1;CC=c.803-752C>T;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.803-752C>T;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.803-752C>T;VC=Intron;DM=LY75/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:4:0:0:3,2:99,69:9.87,0.00:4.93,0.00:4.93,0.00:0.78,0.00:0.97,0.00:0.97,0.00:60,60:36.3,0.0:0,0:0,0:108,91:40,59:15,40:NM_001198759.1(LY75-CD302) c.803-752C>T,-:0.45,-:NOT_FOUND,- 2 160746889 . C . . NT END=160750424;NT GT ./. 2 160750596 . C . . NT END=160755198;NT GT ./. 2 160750861 rs1511224 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5489,C/0.4511;PC=0.014;Gene=LY75-CD302/NM_001198759.1/1;CC=c.467-266A>G;VC=Intron;Gene=LY75-CD302/NM_001198760.1/0;CC=c.467-266A>G;VC=Intron;Gene=LY75/NM_002349.3/1;CC=c.467-266A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,T:11:0:0:0:6,5:172,147:16.78,0.00:0.00,0.00:16.78,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:33.2,27.8:0,0:0,0:80,128:69,20:34,3:NM_001198759.1(LY75-CD302) c.467-266A>G,-:0.41,-:NOT_FOUND,- 2 160755571 . C . . NT END=160761099;NT GT ./. 2 160761194 . C . . NT END=160798288;NT GT ./. 2 160798504 . C . . NT END=160798637;NT GT ./. 2 160798671 . C . . NT END=160801416;NT GT ./. 2 160801594 . C . . NT END=160802325;NT GT ./. 2 160803429 . C . . NT END=160803929;NT GT ./. 2 160804071 . C . . NT END=160806118;NT GT ./. 2 160805993 rs6726923 C G 65 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.02236,G/0.9776;Gene=PLA2R1/NM_001195641.1/0;CC=c.3709+126G>C;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.3709+126G>C;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.3709+126G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:19:0:0:19:563:65.35:65.35:0.00:1.00:1.00:0.00:60:41.3:0:0:71:79:38:NM_007366.4(PLA2R1) c.3709+126G>C,NM_007366.4(PLA2R1) c.3709+126G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 160806288 . C . . NT END=160807850;NT GT ./. 2 160807742 rs952184 A T 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1807,T/0.8193;PC=0.006;Gene=PLA2R1/NM_001195641.1/0;CC=c.3540+109T>A;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.3540+109T>A;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.3540+109T>A;VC=Intron;DM=PLA2R1/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:14:14:0:0:6,8:197,241:0.00,23.76:0.00,23.76:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.8,57.4:0,0:0,0:99,70:51,81:23,21:-,NM_007366.4(PLA2R1) c.3540+109T>A:-,0.85:-,NOT_FOUND 2 160808090 . C . . NT END=160811709;NT GT ./. 2 160808255 rs6432569 A G 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.01118,G/0.9888;NP=2552;Gene=PLA2R1/NM_001195641.1/0;CC=c.3302-166T>C;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.3302-166T>C;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.3302-166T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C,G:8:0:0:0:1,7:10,235:0.63,26.43:0.00,0.00:0.63,26.43:0.00,1.00:0.00,0.00:0.00,1.00:60,60:149.0,33.6:0,0:0,0:69,88:81,62:0,27:NM_007366.4(PLA2R1) c.3302-166T>C,NM_007366.4(PLA2R1) c.3302-166T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 160811858 . C . . NT END=160812208;NT GT ./. 2 160812340 . C . . NT END=160813020;NT GT ./. 2 160813139 . C . . NT END=160824049;NT GT ./. 2 160824190 . C . . NT END=160825766;NT GT ./. 2 160825871 . C . . NT END=160826658;NT GT ./. 2 160825953 rs2175414 G A 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8748,A/0.1252;PC=0.001;Gene=PLA2R1/NM_001195641.1/0;CC=c.2661-83C>T;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.2661-83C>T;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.2661-83C>T;VC=Intron;DM=PLA2R1/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:1:0:0:8,9:271,265:25.82,0.00:1.87,0.00:23.95,0.00:0.99,0.00:0.65,0.00:0.99,0.00:60,60:41.2,4.4:0,0:0,0:131,111:17,38:8,23:NM_007366.4(PLA2R1) c.2661-83C>T,-:0.11,-:NOT_FOUND,- 2 160826637 rs2136972 G A 68 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.8748,A/0.1252;PC=0.527;Gene=PLA2R1/NM_001195641.1/0;CC=c.2660+22C>T;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.2660+22C>T;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.2660+22C>T;VC=Intron;DM=PLA2R1/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:33:0:0:22,18:697,611:68.24,0.00:43.38,0.00:24.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,3.4:0,0:0,0:62,50:85,100:18,30:NM_007366.4(PLA2R1) c.2660+22C>T,-:0.11,-:0.132826,- 2 160826724 . C . . NT END=160832578;NT GT ./. 2 160832737 . C . . NT END=160833195;NT GT ./. 2 160833188 rs2715918 A G 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.1801,G/0.8199;PC=0.036;Gene=PLA2R1/NM_001195641.1/0;CC=c.2437+8T>C;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.2437+8T>C;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.2437+8T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:29:0:0:14,24:462,696:0.00,70.05:0.00,49.19:0.00,20.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.1,34.0:0,0:0,0:73,39:74,103:24,21:-,NM_007366.4(PLA2R1) c.2437+8T>C:-,0.86:-,0.84907 2 160833232 . C . . NT END=160833794;NT GT ./. 2 160833928 . C . . NT END=160836340;NT GT ./. 2 160836426 . C . . NT END=160840438;NT GT ./. 2 160840585 . C . . NT END=160843666;NT GT ./. 2 160843870 . C . . NT END=160862162;NT GT ./. 2 160862333 . C . . NT END=160869773;NT GT ./. 2 160869887 . C . . NT END=160873124;NT GT ./. 2 160872982 rs34121457 A AG 12 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8323,AG/0.1677;NP=1;NP=62;Gene=PLA2R1/NM_001195641.1/0;CC=c.1551+142dupC;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.1551+142dupC;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.1551+142dupC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,AG:8:9:5:0:4,4:132,155:0.00,11.68:0.00,11.68:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:5.2,81.8:0,1:0,0:63,15:88,136:15,11:-,NM_007366.4(PLA2R1) c.1551+142_1551+143insC:-,0.2:-,NOT_FOUND 2 160872991 rs34555459 T G 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6923,C/.,G/0.3077;NP=201;Gene=PLA2R1/NM_001195641.1/0;CC=c.1551+134A>C;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.1551+134A>C;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.1551+134A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,G,T:10:10:0:0:1,6,3:11,183,89:0.50,18.63,0.00:0.50,18.63,0.00:0.00,0.00,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.00,0.00:60,60,60:21.0,70.3,0.0:0,0,0:0,0,0:121,24,64:28,126,87:0,13,14:NM_007366.4(PLA2R1) c.1551+134A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 160873021 rs2715939 G A 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.2975,A/0.7025;Gene=PLA2R1/NM_001195641.1/0;CC=c.1551+104C>T;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.1551+104C>T;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.1551+104C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:A,G:12:12:0:0:6,6:176,195:16.83,0.00:16.83,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:70.3,0.0:0,0:0,0:54,48:96,101:13,36:NM_007366.4(PLA2R1) c.1551+104C>T,-:0.72,-:NOT_FOUND,- 2 160873224 . C . . NT END=160876616;NT GT ./. 2 160873270 rs2667040 A G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.2973,G/0.7027;PC=0.001;Gene=PLA2R1/NM_001195641.1/0;CC=c.1453-47T>C;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.1453-47T>C;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.1453-47T>C;VC=Intron;DM=PLA2R1/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,G:16:3:0:0:11,5:347,155:0.00,13.57:0.00,-0.24:0.00,13.81:0.00,0.88:0.00,0.70:0.00,0.88:60,60:1.1,48.4:0,0:0,0:114,98:37,52:13,40:-,NM_007366.4(PLA2R1) c.1453-47T>C:-,0.75:-,0.715011 2 160873294 rs398104911 T TA 8 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.405,TA/0.5931,TAA/0.001997;DB;DBA=NA;PAF=T/0.405,TA/0.5931;NP=2325;Gene=PLA2R1/NM_001195641.1/0;CC=c.1453-72dupT;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.1453-72dupT;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.1453-72dupT;VC=Intron;DM=PLA2R1/Lectin_C;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:T,TA:11:2:3:0:8,3:255,93:0.00,7.93:0.00,-0.14:0.00,8.07:0.00,0.60:0.00,0.56:0.00,0.60:60,60:1.5,57.7:0,0:0,0:127,77:23,74:20,2:-,NM_007366.4(PLA2R1) c.1453-72_1453-71insT:-,NOT_FOUND:-,NOT_FOUND 2 160876775 . C . . NT END=160879175;NT GT ./. 2 160876827 rs1511213 A G 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.2975,G/0.7025;Gene=PLA2R1/NM_001195641.1/0;CC=c.1295-53T>C;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.1295-53T>C;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.1295-53T>C;VC=Intron;DM=PLA2R1/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:33:12:0:0:17,15,1:569,460,10:0.00,43.50,0.03:0.00,15.03,-0.03:0.00,28.47,0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:17.2,38.7,42.0:0,0,0:0,0,0:78,93,75:73,57,76:28,24,0:-,NM_007366.4(PLA2R1) c.1295-53T>C:-,0.75:-,NOT_FOUND 2 160879371 . C . . NT END=160884728;NT GT ./. 2 160884873 . C . . NT END=160885360;NT GT ./. 2 160885475 . C . . NT END=160889469;NT GT ./. 2 160889644 . C . . NT END=160898535;NT GT ./. 2 160889673 rs2203053 G A 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.5513,A/0.4487;PC=0.001;Gene=PLA2R1/NM_001195641.1/0;CC=c.668-30C>T;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.668-30C>T;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.668-30C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:17:0:0:20,27:680,777:63.65,0.00:9.08,0.00:54.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,9.9:0,0:0,0:98,102:45,40:21,24:NM_007366.4(PLA2R1) c.668-30C>T,-:0.51,-:0.533292,- 2 160898710 . C . . NT END=160901284;NT GT ./. 2 160898783 rs3792194 A G 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.8916,G/0.1084;PC=0.001;Gene=PLA2R1/NM_001195641.1/0;CC=c.494-74T>C;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.494-74T>C;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.494-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,G:25:7:0:0:6,19:173,566:0.00,59.65:0.00,14.42:0.00,45.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,47.3:0,0:0,0:92,109:55,41:25,28:-,NM_007366.4(PLA2R1) c.494-74T>C:-,0.12:-,NOT_FOUND 2 160898882 rs1511222 T C 24 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=PLA2R1/NM_001195641.1/0;CC=c.494-173A>G;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.494-173A>G;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.494-173A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:C,T:12:0:0:0:9,3:229,97:24.23,0.00:0.00,0.00:24.23,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:65.8,0.0:0,0:0,0:146,92:5,58:2,25:NM_007366.4(PLA2R1) c.494-173A>G,-:0.84,-:NOT_FOUND,- 2 160901517 rs4665143 A G 139 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.5427,G/0.4573;PC=0.001;Gene=PLA2R1/NM_001195641.1/0;CC=c.261T>C;ProtCh=p.S87=;VC=Silent;Gene=PLA2R1/NM_007366.4/1;CC=c.261T>C;ProtCh=p.S87=;VC=Silent;Gene=PLA2R1/NM_001007267.2/0;CC=c.261T>C;ProtCh=p.S87=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:46:0:0:34,44:1091,1410:0.00,138.77:0.00,49.03:0.00,89.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,39.1:0,0:0,0:79,95:72,54:37,33:-,NM_007366.4(PLA2R1) c.261T>C (p.(=)):-,0.51:-,0.493618 2 160901669 . C . . NT END=160918805;NT GT ./. 2 160918764 . T C 9 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;Gene=PLA2R1/NM_001195641.1/0;CC=c.109+42A>G;VC=Intron;Gene=PLA2R1/NM_007366.4/1;CC=c.109+42A>G;VC=Intron;Gene=PLA2R1/NM_001007267.2/0;CC=c.109+42A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:C,T:43:38:0:0:9,34:147,887:9.48,0.00:10.54,0.00:-1.06,0.00:0.99,0.00:1.00,0.00:0.95,0.00:60,60:87.3,34.5:0,0:0,0:92,15:25,127:12,13:NM_007366.4(PLA2R1) c.109+42A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 160919027 . T . . NT END=160958246;NT GT ./. 2 160919040 rs11285500 AC A 310 nt VT=DEL;SST=Single;DP=106;DB;DBA=NA;PAF=NA;NP=25;PC=0.001;Gene=PLA2R1/NM_001195641.1/0;CC=c.-127delG;VC=5UTR;Gene=PLA2R1/NM_007366.4/1;CC=c.-127delG;VC=5UTR;Gene=PLA2R1/NM_001007267.2/0;CC=c.-127delG;VC=5UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:AC,C,A:106:59:0:95:14,1,91:405,9,2842:0.00,0.02,309.75:0.00,-0.03,108.36:0.00,0.04,201.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:19.1,116.0,7.4:0,0,0:0,0,0:145,76,94:4,54,46:2,0,23:-,NM_007366.4(PLA2R1) c.-131G[4]:-,0.93:-,NOT_FOUND 2 160958346 . C . . NT END=160964189;NT GT ./. 2 160958349 rs397986462 GA G 30 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=GA/0.5801,G/0.4199;DB;DBA=NA;PAF=GA/0.5801,G/0.4199;DB;DBA=NA;PAF=GA/0.5801,G/0.4199;NP=313;Gene=ITGB6/NM_000888.4/1;CC=c.2269-5delT;VC=Intron;Gene=ITGB6/NM_001282353.1/0;CC=c.2269-5delT;VC=Intron;Gene=ITGB6/NM_001282354.1/0;CC=c.1984-5delT;VC=Intron;Gene=ITGB6/NM_001282355.1/0;CC=c.1948-5delT;VC=Intron;Gene=ITGB6/NM_001282388.1/0;CC=c.2143-5delT;VC=Intron;Gene=ITGB6/NM_001282389.1/0;CC=c.2050-5delT;VC=Intron;Gene=ITGB6/NM_001282390.1/0;CC=c.1855-5delT;VC=Intron;DM=ITGB6/Integrin_b_cyt;DM=ITGB6/Integrin_b_cyt;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:19:12:0:14:9,10:219,424:0.00,30.15:0.00,9.22:0.00,20.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,21.5:0,4:0,0:141,96:8,54:8,18:-,NM_000888.3(ITGB6) c.2269-5delT:-,NOT_FOUND:-,NOT_FOUND 2 160964357 . C . . NT END=160968590;NT GT ./. 2 160968711 . C . . NT END=160980301;NT GT ./. 2 160980400 . C . . NT END=160982889;NT GT ./. 2 160983113 . C . . NT END=160993944;NT GT ./. 2 160983158 rs56128773 G A 93 nt VT=SNV;PN=T;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.9944,A/0.005591;NP=70;Gene=ITGB6/NM_000888.4/1;CC=c.1661-46C>T;VC=Intron;Gene=ITGB6/NM_001282353.1/0;CC=c.1661-46C>T;VC=Intron;Gene=ITGB6/NM_001282354.1/0;CC=c.1376-46C>T;VC=Intron;Gene=ITGB6/NM_001282355.1/0;CC=c.1660+10787C>T;VC=Intron;Gene=ITGB6/NM_001282388.1/0;CC=c.1535-46C>T;VC=Intron;Gene=ITGB6/NM_001282389.1/0;CC=c.1442-46C>T;VC=Intron;Gene=ITGB6/NM_001282390.1/0;CC=c.1247-46C>T;VC=Intron;DM=ITGB6/EGF_2;DM=ITGB6/EGF_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:28:0:0:33,48:1007,1546:92.66,0.00:26.05,0.00:66.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,7.5:0,0:0,0:113,110:37,36:21,23:NM_000888.3(ITGB6) c.1661-46C>T,-:0.01,-:0.010687,- 2 160994363 . C . . NT END=160994575;NT GT ./. 2 160994711 . C . . NT END=160998492;NT GT ./. 2 160998583 . C . . NT END=161025722;NT GT ./. 2 161025819 . C . . NT END=161029079;NT GT ./. 2 161028992 rs1037694 T C 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.391,C/0.609;Gene=ITGB6/NM_000888.4/1;CC=c.921+88A>G;VC=Intron;Gene=ITGB6/NM_001282353.1/0;CC=c.921+88A>G;VC=Intron;Gene=ITGB6/NM_001282354.1/0;CC=c.636+88A>G;VC=Intron;Gene=ITGB6/NM_001282355.1/0;CC=c.921+88A>G;VC=Intron;Gene=ITGB6/NM_001282388.1/0;CC=c.795+88A>G;VC=Intron;Gene=ITGB6/NM_001282389.1/0;CC=c.702+88A>G;VC=Intron;Gene=ITGB6/NM_001282390.1/0;CC=c.507+88A>G;VC=Intron;DM=ITGB6/Integrin_beta;DM=ITGB6/Integrin_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:26:0:0:10,17:351,505:32.15,0.00:30.53,0.00:1.62,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:40.9,10.4:0,0:0,0:46,35:104,116:18,17:NM_000888.3(ITGB6) c.921+88A>G,-:0.64,-:NOT_FOUND,- 2 161029218 rs2305818 G A 98 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.7716,A/0.2284;PC=0.484;Gene=ITGB6/NM_000888.4/1;CC=c.783C>T;ProtCh=p.D261=;VC=Silent;Gene=ITGB6/NM_001282353.1/0;CC=c.783C>T;ProtCh=p.D261=;VC=Silent;Gene=ITGB6/NM_001282354.1/0;CC=c.498C>T;ProtCh=p.D166=;VC=Silent;Gene=ITGB6/NM_001282355.1/0;CC=c.783C>T;ProtCh=p.D261=;VC=Silent;Gene=ITGB6/NM_001282388.1/0;CC=c.657C>T;ProtCh=p.D219=;VC=Silent;Gene=ITGB6/NM_001282389.1/0;CC=c.564C>T;ProtCh=p.D188=;VC=Silent;Gene=ITGB6/NM_001282390.1/0;CC=c.369C>T;ProtCh=p.D123=;VC=Silent;DM=ITGB6/Integrin_beta;DM=ITGB6/Integrin_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:34:0:0:32,35:1033,1124:98.43,0.00:46.11,0.00:52.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,9.6:0,0:0,0:78,105:62,46:38,25:NM_000888.3(ITGB6) c.783C>T (p.(=)),-:0.29,-:0.300784,- 2 161029242 . C . . NT END=161030484;NT GT ./. 2 161030651 . C . . NT END=161051879;NT GT ./. 2 161052127 . C . . NT END=161052726;NT GT ./. 2 161052194 rs137902693 G T 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.992,T/0.007987;NP=100;Gene=ITGB6/NM_000888.4/1;CC=c.347-68C>A;VC=Intron;Gene=ITGB6/NM_001282353.1/0;CC=c.347-68C>A;VC=Intron;Gene=ITGB6/NM_001282354.1/0;CC=c.62-68C>A;VC=Intron;Gene=ITGB6/NM_001282355.1/0;CC=c.347-68C>A;VC=Intron;Gene=ITGB6/NM_001282388.1/0;CC=c.221-68C>A;VC=Intron;Gene=ITGB6/NM_001282389.1/0;CC=c.128-68C>A;VC=Intron;Gene=ITGB6/NM_001282390.1/0;CC=c.-68-68C>A;VC=Intron;DM=ITGB6/Integrin_beta;DM=ITGB6/Integrin_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:59:15:0:0:1,33,25:9,1009,797:-0.12,0.00,74.44:-0.04,0.00,7.27:-0.07,0.00,67.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:202.0,11.3,75.3:0,0,0:0,0,0:82,99,115:69,48,34:0,26,27:-,NM_000888.3(ITGB6) c.347-68C>A:-,NOT_FOUND:-,NOT_FOUND 2 161052198 rs116344038 G C 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.9974,C/0.002596;NP=35;Gene=ITGB6/NM_000888.4/1;CC=c.347-72C>G;VC=Intron;Gene=ITGB6/NM_001282353.1/0;CC=c.347-72C>G;VC=Intron;Gene=ITGB6/NM_001282354.1/0;CC=c.62-72C>G;VC=Intron;Gene=ITGB6/NM_001282355.1/0;CC=c.347-72C>G;VC=Intron;Gene=ITGB6/NM_001282388.1/0;CC=c.221-72C>G;VC=Intron;Gene=ITGB6/NM_001282389.1/0;CC=c.128-72C>G;VC=Intron;Gene=ITGB6/NM_001282390.1/0;CC=c.-68-72C>G;VC=Intron;DM=ITGB6/Integrin_beta;DM=ITGB6/Integrin_beta GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:15:0:0:22,35:651,1071:59.05,0.00:5.74,0.00:53.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:79.2,17.4:0,0:0,0:114,103:33,44:28,23:NM_000888.3(ITGB6) c.347-72C>G,-:0.0023,-:NOT_FOUND,- 2 161052932 . C . . NT END=161055689;NT GT ./. 2 161055770 . C . . NT END=161056513;NT GT ./. 2 161056575 . T . . NT END=161132147;NT GT ./. 2 161132226 . C . . NT END=161133813;NT GT ./. 2 161132293 rs57047289 T C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.8776,C/0.1224;Gene=RBMS1/NM_002897.4/0;CC=c.1135-68A>G;VC=Intron;Gene=RBMS1/NM_016836.3/1;CC=c.1144-68A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:21:8:0:0:1,7,13:14,220,405:0.37,19.72,0.00:-0.11,2.38,0.00:0.48,17.34,0.00:0.00,0.97,0.00:0.00,0.94,0.00:0.00,1.00,0.00:26,60,60:99.0,39.3,1.7:0,0,0:0,0,0:6,86,124:143,65,26:0,30,11:NM_016836.3(RBMS1) c.1144-68A>G,-:0.13,-:NOT_FOUND,- 2 161133895 . C . . NT END=161135058;NT GT ./. 2 161135170 . C . . NT END=161137824;NT GT ./. 2 161137876 . C . . NT END=161138767;NT GT ./. 2 161138816 . C . . NT END=161141285;NT GT ./. 2 161141380 . C . . NT END=161141505;NT GT ./. 2 161141556 . C . . NT END=161143479;NT GT ./. 2 161143596 . C . . NT END=161157161;NT GT ./. 2 161157242 . C . . NT END=161159840;NT GT ./. 2 161159999 . C . . NT END=161169666;NT GT ./. 2 161169759 . C . . NT END=161174679;NT GT ./. 2 161169956 rs10929978 G C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.2522,C/0.7478;PC=0.007;Gene=RBMS1/NM_002897.4/0;CC=c.311-198C>G;VC=Intron;Gene=RBMS1/NM_016836.3/1;CC=c.311-198C>G;VC=Intron;DM=RBMS1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:C,G:7:0:0:0:5,2:153,43:15.93,0.00:0.00,0.00:15.93,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:32.4,10.5:0,0:0,0:84,85:66,65:40,58:NM_016836.3(RBMS1) c.311-198C>G,-:0.76,-:NOT_FOUND,- 2 161174739 . C . . NT END=161223726;NT GT ./. 2 161174740 . TAA T 13 idl,rn VT=DEL;SST=Single;DP=48;NP=1;PC=0.988;Gene=RBMS1/NM_002897.4/0;CC=c.252-4_252-3delTT;VC=Intron;Gene=RBMS1/NM_016836.3/1;CC=c.252-4_252-3delTT;VC=Intron;DM=RBMS1/RRM_1;DM=RBMS1/RRM_1;DM=RBMS1/RRM_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,TAA,I,T:38:35:3:16:3,27,2,6:67,782,93,431:3.89,0.00,3.71,13.29:-0.54,0.00,3.85,8.62:4.43,0.00,-0.14,4.67:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.83:60,60,60,70:122.7,23.4,42.5,123.7:1,1,1,9:0,0,0,0:72,111,49,82:79,24,100,60:28,22,5,17:-,NM_016836.3(RBMS1) c.252-4_252-3delTT:-,NOT_FOUND:-,NOT_FOUND 2 161174860 rs4456654 A T 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.8788,T/0.1212;PC=0.036;Gene=RBMS1/NM_002897.4/0;CC=c.252-122T>A;VC=Intron;Gene=RBMS1/NM_016836.3/1;CC=c.252-122T>A;VC=Intron;DM=RBMS1/RRM_1;DM=RBMS1/RRM_1;DM=RBMS1/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:0:0:0:14,12:458,327:0.00,30.60:0.00,0.00:0.00,30.60:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.2,48.2:0,0:0,0:91,52:59,98:29,32:-,NM_016836.3(RBMS1) c.252-122T>A:-,0.13:-,NOT_FOUND 2 161223903 . C . . NT END=161263974;NT GT ./. 2 161264396 . C . . NT END=161349799;NT GT ./. 2 161349875 . G . . NT END=161993470;NT GT ./. 2 161350902 rs370327057 T TAC 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=100;PC=0.010;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TAC:5:6:4:0:2,3:68,132:0.00,9.83:0.00,8.09:0.00,1.74:0.00,0.73:0.00,0.73:0.00,0.67:60,70:34.5,69.0:0,1:0,0:103,47:47,102:14,28:-,NM_016836.3(RBMS1) c.-444-u585_-444-u584insGT:-,NOT_FOUND:-,NOT_FOUND 2 161350906 rs71006613 T C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4675,A/.,C/0.5325;DB;DBA=NA;PAF=NA;NP=2;NP=26;NP=38;NP=59;NP=73;PC=0.370 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:243:27.64:23.56:4.08:1.00:1.00:1.00:70:51.7:3:0:74:75:41:NM_016836.3(RBMS1) c.-444-u588A>G,NM_016836.3(RBMS1) c.-444-u588A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 161537970 rs374417371 C CTGTGTGTGTGTG 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=2;NP=2;NP=3;PC=0.001;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTGTGTGTGTGTG:3:3:4:0:3:126:11.36:5.68:5.68:0.85:0.99:0.95:70:46.0:1:0:89:56:20:chr2 g.161537970_161537971insTGTGTGTGTGTG (intergenic),chr2 g.161537970_161537971insTGTGTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 161590071 rs528927562 GCACACACACACACACACACACA G 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GCACACACACACACACACACACA/0.52,G/0.48;NP=2;PC=0.090;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:GCACACACACACACACACACACA,G:6:6:0:6:2,4:60,150:0.00,11.80:0.00,6.45:0.00,5.35:0.00,0.90:0.00,0.99:0.00,0.98:60,60:15.0,37.5:0,1:0,0:100,42:17,108:48,0:-,chr2 g.161590072_161590093delCACACACACACACACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 161694624 rs270978 G A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:2:0:0:6:179:20.73:5.63:15.11:1.00:1.00:1.00:60:29.8:0:0:115:36:12:chr2 g.161694623G>A (intergenic),chr2 g.161694623G>A (intergenic):1,1:NOT_FOUND,NOT_FOUND 2 161726971 rs72336516 GCA G 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:4:0:5:3:125:6.67:6.29:0.38:0.78:0.97:0.87:60:34.3:2:0:88:53:13:chr2 g.161726972_161726973delCA (intergenic),chr2 g.161726972_161726973delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 161737316 rs397727934 CGTGT C 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=41;PC=0.001;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CGTGT,C:5:4:0:4:1,4:35,128:0.00,13.62:0.00,8.45:0.00,5.17:0.00,0.96:0.00,1.00:0.00,0.99:60,60:13.0,34.8:0,0:0,0:98,27:53,101:0,3:-,chr2 g.161737317_161737320delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 161748591 rs5835854 G GACACAC 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=5;PC=0.004;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:G,GACACAC:6:5:5:0:2,4:48,133:0.00,13.21:0.00,8.90:0.00,4.31:0.00,0.90:0.00,0.98:0.00,0.97:60,70:78.5,2.8:0,1:0,0:103,56:43,93:5,19:-,chr2 g.161748591_161748592insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 161837788 rs71009309 TACACACAC T 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TACACACAC/0.05232,T/0.9477;DB;DBA=NA;PAF=TACACACAC/0.05232,T/0.9477;NP=26;PC=0.109;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:TACACACAC,T:8:6:0:4:4,4:123,93:0.00,8.76:0.00,6.22:0.00,2.54:0.00,0.87:0.00,0.73:0.00,0.51:60,70:27.8,33.0:0,0:0,0:116,50:29,91:23,30:-,chr2 g.161837789_161837796delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 161993746 . A . . NT END=161994395;NT GT ./. 2 161993913 rs12465423 C T 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8373,T/0.1627;Gene=TANK/NM_133484.1/0;CC=c.-50+339C>T;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.-50+339C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:C,T:16:0:0:0:6,10:160,295:0.00,29.68:0.00,0.00:0.00,29.68:0.00,1.00:0.00,0.00:0.00,1.00:60,60:20.0,57.6:0,0:0,0:131,109:18,32:12,25:-,NM_004180.2(TANK) c.-50+339C>T:-,0.15:-,NOT_FOUND 2 161994377 rs3769984 T C 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8423,C/0.1577;PC=0.002;Gene=TANK/NM_133484.1/0;CC=c.-50+803T>C;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.-50+803T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:36:C,T:8:8:0:0:6,2:204,44:21.34,0.00:21.34,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.0,41.5:0,0:0,0:44,38:106,111:19,13:NM_004180.2(TANK) c.-50+803T>C,-:0.13,-:NOT_FOUND,- 2 161994525 . A . . NT END=161996224;NT GT ./. 2 161994540 rs3071183 CAT C 65 nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=121;PC=0.002;Gene=TANK/NM_133484.1/0;CC=c.-50+967_-50+968delAT;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.-50+967_-50+968delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAT,C:31:18:0:21:10,21:334,631:0.00,64.65:0.00,29.99:0.00,34.65:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.1,22.8:0,0:0,0:71,90:78,60:29,24:-,NM_004180.2(TANK) c.-50+967_-50+968delAT:-,0.14:-,NOT_FOUND 2 161996326 rs1921308 C A 103 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.9389,A/0.0611;PC=0.002;Gene=TANK/NM_133484.1/0;CC=c.-50+2752C>A;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.-50+2752C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:63:45:0:0:33,30:1061,993:102.91,0.00:64.44,0.00:38.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,2.6:0,0:0,0:72,71:77,75:30,25:NM_004180.2(TANK) c.-50+2752C>A,-:0.08,-:NOT_FOUND,- 2 161996470 . T . . NT END=162012533;NT GT ./. 2 162012685 . c . . NT END=162012723;NT GT ./. 2 162012874 . t . . NT END=162016938;NT GT ./. 2 162012955 rs3754974 A G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.9249,G/0.07508;PC=0.007;Gene=TANK/NM_133484.1/0;CC=c.-50+19381A>G;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.-50+19381A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,G,T:24:5:0:0:17,6,1:565,197,12:0.00,16.83,0.13:0.00,4.66,-0.04:0.00,12.16,0.17:0.00,0.92,0.00:0.00,0.75,0.00:0.00,0.99,0.00:60,60,60:11.2,32.8,160.0:0,0,0:0,0,0:109,126,27:41,19,123:35,11,0:-,NM_004180.2(TANK) c.-50+19381A>G:-,0.08:-,NOT_FOUND 2 162016784 rs13407728 A G 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=0.012;Gene=TANK/NM_133484.1/0;CC=c.-49-19341A>G;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.-49-19341A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:31:0:0:13,18:385,535:0.00,52.89:0.00,52.89:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:21.3,51.2:0,0:0,0:43,63:107,85:33,24:-,NM_004180.2(TANK) c.-49-19341A>G:-,0.14:-,NOT_FOUND 2 162016998 . G . . NT END=162036124;NT GT ./. 2 162036273 . G . . NT END=162036406;NT GT ./. 2 162036519 . T . . NT END=162036593;NT GT ./. 2 162036664 rs147864582 CTT C 63 PASS VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=CTT/0.9481,C/0.05192;NP=185;Gene=TANK/NM_133484.1/0;CC=c.99+395_99+396delTT;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.99+395_99+396delTT;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.99+395_99+396delTT;VC=Intron;DM=TANK/TBD;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:45:29:0:21:24,21:779,667:0.00,63.23:0.00,31.76:0.00,31.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.9,4.0:0,0:0,0:90,87:45,64:35,30:-,NM_004180.2(TANK) c.99+393_99+394delTT:-,NOT_FOUND:-,NOT_FOUND 2 162036708 . T . . NT END=162056834;NT GT ./. 2 162036821 rs16845690 T C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.9303,C/0.06969;Gene=TANK/NM_133484.1/0;CC=c.99+549T>C;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.99+549T>C;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.99+549T>C;VC=Intron;DM=TANK/TBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:8:0:0:0:5,3:175,99:17.59,0.00:0.00,0.00:17.59,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:37.2,0.0:0,0:0,0:124,124:26,26:10,12:NM_004180.2(TANK) c.99+549T>C,-:0.07,-:NOT_FOUND,- 2 162056915 . T . . NT END=162057024;NT GT ./. 2 162056919 rs75395164 C G 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.9263,G/0.07368;Gene=TANK/NM_133484.1/0;CC=c.100-3079C>G;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.100-3079C>G;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.100-3079C>G;VC=Intron;DM=TANK/TBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:42:34:0:0:2,22,18:19,708,531:0.17,0.00,49.69:-0.04,0.00,31.17:0.21,0.00,18.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:70.5,10.7,52.2:0,0,0:0,0,0:80,96,92:70,47,59:40,36,26:-,NM_004180.2(TANK) c.100-3079C>G:-,0.07:-,NOT_FOUND 2 162057018 rs3754972 T A 38 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.8452,A/0.1548;Gene=TANK/NM_133484.1/0;CC=c.100-2980T>A;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.100-2980T>A;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.100-2980T>A;VC=Intron;DM=TANK/TBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:16:0:0:15,18:411,585:38.33,0.00:6.75,0.00:31.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.9,1.1:0,0:0,0:51,61:99,86:31,34:NM_004180.2(TANK) c.100-2980T>A,-:0.13,-:NOT_FOUND,- 2 162057104 . T . . NT END=162057550;NT GT ./. 2 162057428 rs144964268 T C 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=5;Gene=TANK/NM_133484.1/0;CC=c.100-2570T>C;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.100-2570T>C;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.100-2570T>C;VC=Intron;DM=TANK/TBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:C,T:15:14:0:0:10,5:343,139:34.96,0.00:31.06,0.00:3.90,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:47.2,9.4:0,0:0,0:73,45:78,104:31,29:NM_004180.2(TANK) c.100-2570T>C,-:0.0009,-:NOT_FOUND,- 2 162057670 . T . . NT END=162057740;NT GT ./. 2 162057859 . A . . NT END=162059994;NT GT ./. 2 162059817 rs1267075 G A 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1581,A/0.8419;PC=0.140;Gene=TANK/NM_133484.1/0;CC=c.100-181G>A;VC=Intron;Gene=TANK/NM_004180.2/0;CC=c.100-181G>A;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.100-181G>A;VC=Intron;DM=TANK/TBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:234:26.74:26.74:0.00:1.00:1.00:0.00:60:38.4:0:0:83:68:26:NM_004180.2(TANK) c.100-181G>A,NM_004180.2(TANK) c.100-181G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 162060107 . G . . NT END=162061185;NT GT ./. 2 162061491 . C . . NT END=162063890;NT GT ./. 2 162061565 rs1267050 C G 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.06909,G/0.9309;PC=0.003;Gene=TANK/NM_004180.2/0;CC=c.327+261C>G;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.327+261C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:3:0:0:23:776:88.57:8.00:80.56:1.00:1.00:1.00:60:38.3:0:0:88:63:22:NM_004180.2(TANK) c.327+261C>G,NM_004180.2(TANK) c.327+261C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 162064449 . C . . NT END=162064648;NT GT ./. 2 162064474 rs3769973 A G 63 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.8438,G/0.1562;Gene=TANK/NM_004180.2/0;CC=c.327+3170A>G;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.327+3170A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:15:0:0:14,20:461,639:0.00,63.40:0.00,25.65:0.00,37.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.9,36.4:0,0:0,0:83,72:66,76:25,25:-,NM_004180.2(TANK) c.327+3170A>G:-,0.13:-,NOT_FOUND 2 162064664 . A . . NT END=162068261;NT GT ./. 2 162068574 rs58111556 C CTT 15 idl,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8017,CT/0.1983,CTT/.;DB;DBA=NA;PAF=C/0.8017,CT/0.1983,CTTT/.;NP=1;NP=1;NP=32;PC=0.456;Gene=TANK/NM_004180.2/0;CC=c.327+7285_327+7286insTT;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.327+7285_327+7286insTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,CTT,D:33:15:11:2:26,6,1:793,347,49:0.00,15.31,0.92:0.00,3.64,-0.08:0.00,11.67,1.00:0.00,0.88,0.00:0.00,0.86,0.00:0.00,0.98,0.00:60,60,60:20.5,18.8,48.0:0,5,1:0,0,0:132,66,127:15,85,22:14,33,0:-,NM_004180.2(TANK) c.327+7270_327+7271insTT:-,NOT_FOUND:-,NOT_FOUND 2 162068597 . g . . NT END=162068850;NT GT ./. 2 162068723 rs59650047 C A 57 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.9261,A/0.07388;PC=0.003;Gene=TANK/NM_004180.2/0;CC=c.327+7419C>A;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.327+7419C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:36:19:0:0:20,16:586,496:57.29,0.00:30.80,0.00:26.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.0,33.6:0,0:0,0:59,78:90,68:29,38:NM_004180.2(TANK) c.327+7419C>A,-:0.08,-:NOT_FOUND,- 2 162069234 rs1267032 G A 253 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.1532,A/0.8468;PC=0.012;Gene=TANK/NM_004180.2/0;CC=c.327+7930G>A;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.327+7930G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:A,C,G:72:39:0:0:70,1,1:2222,10,11:253.37,0.13,0.00:96.20,0.13,0.00:157.17,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.6,150.0,126.0:0,0,0:0,0,0:72,75,125:78,68,21:40,0,0:NM_004180.2(TANK) c.327+7930G>A,NM_004180.2(TANK) c.327+7930G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 162069289 . A . . NT END=162080425;NT GT ./. 2 162080503 . G . . NT END=162081141;NT GT ./. 2 162081258 . G . . NT END=162087481;NT GT ./. 2 162088063 . G . . NT END=162091852;NT GT ./. 2 162091765 rs3754971 G A 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.8482,A/0.1518;PC=0.002;Gene=TANK/NM_004180.2/0;CC=c.1102-88G>A;VC=Intron;Gene=TANK/NM_001199135.1/1;CC=c.1102-88G>A;VC=Intron;Gene=LOC101929512/NR_110593.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:28:0:0:14,16:434,526:41.07,0.00:31.09,0.00:9.98,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:37.6,0.0:0,0:0,0:52,30:98,121:33,20:NM_004180.2(TANK) c.1102-88G>A,-:0.13,-:NOT_FOUND,- 2 162092030 . G . . NT END=162175336;NT GT ./. 2 162137689 rs62196109 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:41:127.8:0:0:24:126:18:chr2 g.162137688T>C (intergenic),chr2 g.162137688T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162137731 rs62196110 A T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:175:19.88:19.88:0.00:1.00:1.00:0.00:41:109.2:0:0:50:100:25:chr2 g.162137730A>T (intergenic),chr2 g.162137730A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162137868 rs199978668 CTCTG C 16 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=104;PC=0.057;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:CTCTG,C:10:7:0:6:4,6:136,164:0.00,16.32:0.00,11.82:0.00,4.50:0.00,0.99:0.00,1.00:0.00,0.97:60,51:48.0,86.0:0,0:0,0:41,66:104,76:23,29:-,chr2 g.162137869_162137872delTCTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137880 . G C 8 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:C,G:12:8:0:0:3,9:96,305:8.10,0.00:5.63,0.00:2.48,0.00:0.59,0.00:0.87,0.00:0.80,0.00:60,60:138.0,75.1:1,5:0,0:4,47:144,88:0,15:chr2 g.162137879G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162137902 rs10930015 C T 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=13;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:11:0:0:7,9:216,251:0.00,24.62:0.00,10.95:0.00,13.67:0.00,1.00:0.00,1.00:0.00,1.00:60,51:77.4,143.2:0,0:0,0:38,22:110,116:24,20:-,chr2 g.162137901C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137928 . A T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;PC=0.645 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,T:21:16:0:0:18,3:548,95:0.00,7.20:0.00,3.21:0.00,3.98:0.00,0.49:0.00,0.85:0.00,0.83:60,40:159.2,103.3:0,0:0,0:29,95:114,38:17,13:-,chr2 g.162137927A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137938 rs139352740 C CCA 29 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=7;PC=0.932;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CCA:22:17:11:0:1,10,11:33,330,306:2.23,0.00,29.46:1.10,0.00,10.03:1.14,0.00,19.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:39,60,60:277.0,128.4,202.4:0,0,0:0,0,0:0,54,38:137,84,112:0,25,19:-,chr2 g.162137938_162137939insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137949 rs62196111 A C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=2;PC=0.746 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,C,D:20:16:0:3:13,5,2:350,174,101:0.00,15.15,5.05:0.00,9.32,1.14:0.00,5.83,3.91:0.00,0.85,0.00:0.00,0.97,0.00:0.00,0.97,0.00:60,60,60:206.2,191.6,15.5:0,0,1:0,0,0:44,57,61:107,92,65:19,26,24:-,chr2 g.162137948A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137951 rs62196112 C A 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7338,A/0.2662;NP=22;PC=0.666 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,C,G:17:12:0:3:4,12,1:135,398,12:11.50,0.00,0.24:7.50,0.00,0.43:4.00,0.00,-0.20:0.74,0.00,0.00:0.93,0.00,0.00:0.94,0.00,0.00:58,60,34:225.0,193.8,93.0:0,0,0:0,0,0:55,49,133:95,101,17:21,19,0:chr2 g.162137950C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162137962 rs376264498 A ACGCACGCACG 10 sb;idl,nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.843;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,ACGCACGCACG:21:18:6:0:17,4:563,189:0.00,9.86:0.00,1.67:0.00,8.19:0.00,0.69:0.00,0.93:0.00,0.94:60,60:156.2,335.2:10,2:0,0:68,51:65,99:26,25:-,chr2 g.162137962_162137963insCGCACGCACG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137966 rs370637375 A G 15 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.955 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G,I:19:16:5:0:10,5,4:309,167,143:0.00,14.83,9.16:0.00,4.96,4.04:0.00,9.86,5.12:0.00,0.85,0.00:0.00,0.97,0.00:0.00,0.97,0.00:60,60,58:91.9,235.8,297.2:1,1,1:0,0,0:86,59,51:54,91,100:44,12,9:-,chr2 g.162137965A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137978 rs77012597 A G 61 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.956 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:20:0:0:7,19:234,591:0.00,61.44:0.00,29.20:0.00,32.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.3,235.2:1,0:0,0:93,77:40,74:43,23:-,chr2 g.162137977A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162137993 rs78087086 C A 88 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.153 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:A,C:29:21:0:0:25,4:815,115:88.44,0.00:43.86,0.00:44.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:231.4,7.8:0,0:0,0:74,72:65,54:38,18:chr2 g.162137992C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162137994 rs76175357 C A 76 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.103 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,C:26:18:0:0:22,4:704,141:76.03,0.00:36.81,0.00:39.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:234.5,0.0:0,0:0,0:87,73:60,53:28,18:chr2 g.162137993C>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162138012 rs76282950 A G 98 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=31;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:31:21:0:0:4,27:135,904:0.00,98.09:0.00,42.61:0.00,55.47:0.00,1.00:0.00,1.00:0.00,1.00:60,58:7.8,219.0:0,0:0,0:99,86:14,57:32,48:-,chr2 g.162138011A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162138021 rs62196115 G A 93 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=122;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:28:18:0:0:25,3:851,90:92.89,0.00:39.16,0.00:53.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:215.4,0.0:0,0:0,0:62,90:68,40:38,20:chr2 g.162138020G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162138023 . G C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,G:25:16:0:0:3,22:106,710:8.05,0.00:4.16,0.00:3.89,0.00:0.46,0.00:0.79,0.00:0.86,0.00:54,60:268.7,192.3:0,0:0,0:119,98:32,37:3,38:chr2 g.162138022G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162138028 rs62196116 C T 70 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=18;PC=0.304 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:22:16:0:0:3,19:100,650:0.00,70.26:0.00,35.69:0.00,34.56:0.00,1.00:0.00,1.00:0.00,1.00:60,54:0.0,229.3:0,0:0,0:97,104:33,35:20,29:-,chr2 g.162138027C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162138072 rs10439255 G C 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=675;PC=0.034 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:C,G:16:8:0:0:15,1:532,31:58.73,0.00:21.67,0.00:37.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:168.1,0.0:0,0:0,0:79,109:64,42:12,0:chr2 g.162138071G>C (intergenic),chr2 g.162138071G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162138098 rs370338860 G A 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=12;PC=0.169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:18:8:0:0:3,15:93,509:7.21,0.00:1.06,0.00:6.15,0.00:0.52,0.00:0.72,0.00:0.87,0.00:43,60:196.3,167.5:0,0:0,0:102,117:36,34:13,16:chr2 g.162138097G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162138170 rs9283471 T A 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:3:0:0:7:199:23.23:8.74:14.49:1.00:1.00:1.00:51:63.9:0:0:76:75:35:chr2 g.162138169T>A (intergenic),chr2 g.162138169T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162138274 rs4643556 G T 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1163;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:2:0:0:5:164:18.78:5.87:12.92:1.00:1.00:1.00:60:109.8:0:0:69:81:33:chr2 g.162138273G>T (intergenic),chr2 g.162138273G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162138284 rs4541270 C G 11 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:2:0:0:1,3:35,106:0.00,11.05:0.00,1.37:0.00,9.68:0.00,0.85:0.00,0.95:0.00,0.99:52,58:126.0,85.0:0,0:0,0:78,108:71,43:0,16:-,chr2 g.162138283C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 162138366 rs78574600 G C 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=193;NP=78;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,G:4:1:0:0:2,2:67,63:6.45,0.00:3.48,0.00:2.97,0.00:0.51,0.00:0.67,0.00:0.89,0.00:60,60:169.5,158.5:0,0:0,0:81,68:69,68:46,25:chr2 g.162138365G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 162138374 rs4419245 A G 15 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:134:15.31:1.99:13.32:1.00:1.00:1.00:60:164.0:0:0:76:60:29:chr2 g.162138373A>G (intergenic),chr2 g.162138373A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162175290 rs1116165 T C 68 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=3337;PC=1.000;Gene=PSMD14/NM_005805.5/1;CC=c.-4-43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:16:0:0:19:595:68.47:53.32:15.15:1.00:1.00:1.00:60:39.5:0:0:25:120:15:NM_005805.5(PSMD14) c.-4-43T>C,NM_005805.5(PSMD14) c.-4-43T>C:1,1:NOT_FOUND,NOT_FOUND 2 162175385 . G . . NT END=162223988;NT GT ./. 2 162196007 rs202216505 AT A 11 idl,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=AT/0.4097,A/0.5903;NP=3;PC=0.013;Gene=PSMD14/NM_005805.5/1;CC=c.48+20644delT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:AT,I,A:20:21:3:7:14,2,4:413,91,199:0.00,4.07,10.60:0.00,0.93,10.90:0.00,3.14,-0.30:0.00,0.00,0.68:0.00,0.00,0.94:0.00,0.00,0.64:60,60,60:37.9,64.5,30.5:0,1,3:0,0,0:23,22,14:116,128,125:19,15,6:-,NM_005805.5(PSMD14) c.48+20624delT:-,NOT_FOUND:-,NOT_FOUND 2 162196626 rs200239256 G C 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=731;Gene=PSMD14/NM_005805.5/1;CC=c.48+21242G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:62:40:0:0:25,37:800,1077:73.79,0.00:53.37,0.00:20.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:42,44:37.4,23.5:0,0:0,0:83,85:68,66:48,40:NM_005805.5(PSMD14) c.48+21242G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 162197145 rs4027149 T C 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.0647,C/0.9353;Gene=PSMD14/NM_005805.5/1;CC=c.48+21761T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:89:57:0:0:1,36,1,51:23,1075,8,1714:0.63,99.02,-0.18,0.00:0.75,56.61,-0.06,0.00:-0.12,42.41,-0.12,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:42,50,42,56:23.0,35.2,8.0,9.6:0,0,0,0:0,0,0,0:132,86,62,78:18,64,89,70:0,46,0,30:NM_005805.5(PSMD14) c.48+21761T>C,-:0.94,-:NOT_FOUND,- 2 162224061 . G . . NT END=162224294;NT GT ./. 2 162224193 rs78825353 G GT 31 nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.08207,GT/0.9179;DB;DBA=NA;PAF=G/0.08207,GT/0.9179;DB;DBA=NA;PAF=NA;NP=1;NP=2664;Gene=PSMD14/NM_005805.5/1;CC=c.121-97dupT;VC=Intron;DM=PSMD14/JAB;DM=PSMD14/JAB;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:29:17:11:0:17,1,11:543,12,343:0.00,0.14,31.40:0.00,-0.11,18.57:0.00,0.25,12.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.9,12.0,4.0:1,0,0:0,0,0:52,40,60:98,111,91:42,0,33:-,NM_005805.5(PSMD14) c.121-102_121-101insT:-,0.93:-,NOT_FOUND 2 162224415 . G . . NT END=162226617;NT GT ./. 2 162226689 . G . . NT END=162227682;NT GT ./. 2 162227834 . G . . NT END=162241974;NT GT ./. 2 162242083 . G . . NT END=162247614;NT GT ./. 2 162247690 . G . . NT END=162251588;NT GT ./. 2 162247772 rs1921674 C T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.143,T/0.857;PC=0.185;Gene=PSMD14/NM_005805.5/1;CC=c.645+83C>T;VC=Intron;DM=PSMD14/MitMem_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:C,T:14:1:0:0:6,8:180,275:0.00,27.17:0.00,-0.18:0.00,27.35:0.00,1.00:0.00,0.71:0.00,1.00:60,60:16.2,46.8:0,0:0,0:126,74:24,75:13,35:-,NM_005805.5(PSMD14) c.645+83C>T:-,0.85:-,NOT_FOUND 2 162251437 rs11886577 T C 17 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6743,C/0.3257;PC=0.001;Gene=PSMD14/NM_005805.5/1;CC=c.646-152T>C;VC=Intron;DM=PSMD14/MitMem_reg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:C,T:7:6:0:0:5,2:166,49:17.18,0.00:13.24,0.00:3.93,0.00:0.98,0.00:1.00,0.00:0.81,0.00:60,60:84.8,94.0:0,0:0,0:8,10:143,140:3,7:NM_005805.5(PSMD14) c.646-152T>C,-:0.35,-:NOT_FOUND,- 2 162251499 . G GT 10 rn VT=INS;SST=Single;DP=20;NP=2;Gene=PSMD14/NM_005805.5/1;CC=c.646-77dupT;VC=Intron;DM=PSMD14/MitMem_reg;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:G,GT,D:19:18:4:2:14,4,1:466,118,53:0.00,9.56,2.07:0.00,4.35,0.89:0.00,5.21,1.18:0.00,0.71,0.00:0.00,0.95,0.00:0.00,0.60,0.00:60,60,60:68.9,30.2,82.0:0,0,1:0,0,0:38,49,18:104,102,132:28,24,2:-,NM_005805.5(PSMD14) c.646-90_646-89insT:-,NOT_FOUND:-,NOT_FOUND 2 162251715 . G . . NT END=162265347;NT GT ./. 2 162265411 . G . . NT END=162267812;NT GT ./. 2 162267912 . A . . NT END=162272921;NT GT ./. 2 162273614 . G . . NT END=162274186;NT GT ./. 2 162274342 . G . . NT END=162274569;NT GT ./. 2 162274599 . g . . NT END=162274711;NT GT ./. 2 162274607 rs370993993 A ATG 67 idl,rn VT=INS;SST=Single;DP=158;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=2;NP=3;PC=0.991;Gene=TBR1/NM_006593.2/1;CC=c.848-70_848-69insGT;VC=Intron;DM=TBR1/T-box;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATG,D:152:116:29:21:109,27,16:3243,907,634:0.00,67.27,37.60:0.00,48.34,15.62:0.00,18.93,21.98:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:18.8,18.6,7.8:2,3,4:0,0,0:93,71,52:50,76,97:31,20,28:-,NM_006593.2(TBR1) c.848-105_848-104insTG:-,NOT_FOUND:-,NOT_FOUND 2 162274834 . G . . NT END=162275402;NT GT ./. 2 162275562 . G . . NT END=162276706;NT GT ./. 2 162276769 . G . . NT END=162279879;NT GT ./. 2 162279850 rs139857158 GCT G 9 end,rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=201;PC=1.000;Gene=TBR1/NM_006593.2/1;CC=c.1191-14_1191-13delTC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,GCT,G:52:33:0:4:1,47,4:9,1341,130:-0.25,0.00,8.83:-0.21,0.00,8.26:-0.04,0.00,0.57:0.00,0.00,0.54:0.00,0.00,0.82:0.00,0.00,0.78:60,60,60:110.0,28.0,0.0:0,0,0:0,0,0:48,25,10:103,118,141:0,13,3:-,NM_006593.2(TBR1) c.1191-29_1191-28delCT:-,NOT_FOUND:-,NOT_FOUND 2 162280739 . G . . NT END=162480698;NT GT ./. 2 162280748 rs890076 G A 163 nt VT=SNV;PN=T;NN=C;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.2414,A/0.7586;PC=0.164;Gene=TBR1/NM_006593.2/1;CC=c.*10G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:151:58:0:0:62,88,1:1776,2885,21:162.89,0.00,0.29:38.27,0.00,-0.07:124.62,0.00,0.36:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.5,9.6,74.0:0,0,0:0,0,0:99,97,35:49,46,102:36,35,0:NM_006593.2(TBR1) c.*10G>A,-:0.76,-:0.786457,- 2 162290745 rs397722116 G GCA 15 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4539,GCA/0.5461,GCACA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=645;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GCA:4:5:5:0:4:165:14.72:7.36:7.36:0.96:0.96:1.00:70:5.8:1:0:29:122:16:chr2 g.162290745_162290746insCA (intergenic),chr2 g.162290745_162290746insCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162356090 rs3914096 A G 133 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.1158,G/0.8842;PC=0.582;Gene=AHCTF1P1/NR_077058.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:27:0:0:35:1167:133.37:71.42:61.94:1.00:1.00:1.00:58:38.4:0:0:31:104:24:chr2 g.162356089A>G (intergenic),chr2 g.162356089A>G (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 2 162359983 rs12620974 T C 319 nt VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.04752,C/0.9525;PC=0.185;Gene=AHCTF1P1/NR_077058.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:96:57:0:0:95,1:2767,14:319.21,0.00:162.01,0.00:157.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,7.0:0,0:0,0:77,77:71,74:35,0:chr2 g.162359982T>C (intergenic),chr2 g.162359982T>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 2 162360575 rs62187565 T C 118 nt VT=SNV;PN=G;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.9219,C/0.07808;PC=1.000;Gene=AHCTF1P1/NR_077058.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:45:0:0:38,31:1204,898:117.89,0.00:57.75,0.00:60.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,8.8:0,0:0,0:89,63:61,86:31,45:chr2 g.162360574T>C (intergenic),-:0.08,-:NOT_FOUND,- 2 162363066 rs62187567 G A 98 nt VT=SNV;PN=C;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9217,A/0.07827;PC=1.000;Gene=AHCTF1P1/NR_077058.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:45:0:0:33,37:1035,1168:98.17,0.00:61.07,0.00:37.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,9.1:0,0:0,0:97,72:54,79:29,37:chr2 g.162363065G>A (intergenic),-:0.08,-:NOT_FOUND,- 2 162363930 rs139302533 G A 85 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.9217,A/0.07827;PC=1.000;Gene=AHCTF1P1/NR_077058.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:31:0:0:29,28:887,908:85.35,0.00:44.28,0.00:41.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,10.4:0,0:0,0:56,67:95,83:29,48:chr2 g.162363929G>A (intergenic),-:0.08,-:NOT_FOUND,- 2 162480684 rs16845945 C T 129 nt VT=SNV;PN=A;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.9259,T/0.07408;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:98:86:0:0:1,53,44:11,1713,1376:-0.10,0.00,129.48:-0.05,0.00,90.66:-0.05,0.00,38.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:66.0,10.0,38.5:0,0,0:0,0,0:8,48,56:143,96,88:0,21,29:-,NM_001178015.1(SLC4A10) c.-184-u161C>T:-,0.08:-,NOT_FOUND 2 162480706 . G . . NT END=162480828;NT GT ./. 2 162481077 . G . . NT END=162565203;NT GT ./. 2 162536177 rs9287815 A T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.07508,T/0.9249;PC=0.001;Gene=SLC4A10/NM_001178015.1/1;CC=c.48+55101A>T;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.-55-29027A>T;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.48+55101A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:135:15.41:9.59:5.82:1.00:1.00:1.00:60:41.2:0:0:81:55:2:NM_001178015.1(SLC4A10) c.48+55101A>T,NM_001178015.1(SLC4A10) c.48+55101A>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 162565340 . G . . NT END=162627482;NT GT ./. 2 162627391 rs41267437 G A 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9123,A/0.08766;Gene=SLC4A10/NM_001178015.1/1;CC=c.49-92G>A;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.82-92G>A;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.49-92G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:17:17:0:0:12,5:393,175:40.55,0.00:40.55,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:32.8,6.4:0,0:0,0:25,44:126,106:18,24:NM_001178015.1(SLC4A10) c.49-92G>A,-:0.09,-:NOT_FOUND,- 2 162627565 . G . . NT END=162660958;NT GT ./. 2 162633366 rs367554589 GGTGT G 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=13;PC=0.106;Gene=SLC4A10/NM_001178015.1/1;CC=c.130+5835_130+5838delGTGT;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.163+5835_163+5838delGTGT;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.130+5835_130+5838delGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:GGTGT,G:6:3:0:4:3,3:103,123:0.00,8.60:0.00,3.19:0.00,5.41:0.00,0.69:0.00,0.83:0.00,0.93:60,60:10.3,36.7:0,1:0,0:83,65:68,77:30,21:-,NM_001178015.1(SLC4A10) c.130+5803_130+5806delGTGT:-,NOT_FOUND:-,NOT_FOUND 2 162661106 . G . . NT END=162696298;NT GT ./. 2 162696255 rs2084544 G A 80 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.9277,A/0.07228;PC=0.646;Gene=SLC4A10/NM_001178015.1/1;CC=c.278-44G>A;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.311-44G>A;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.278-44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:53:0:0:26,33:851,1021:79.93,0.00:69.77,0.00:10.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,7.8:0,0:0,0:41,41:92,106:32,26:NM_001178015.1(SLC4A10) c.278-44G>A,-:0.08,-:0.049636,- 2 162696414 rs2084543 C T 149 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=C/0.9305,T/0.06949;PC=1.000;Gene=SLC4A10/NM_001178015.1/1;CC=c.393C>T;ProtCh=p.D131=;VC=Silent;Gene=SLC4A10/NM_001178016.1/0;CC=c.426C>T;ProtCh=p.D142=;VC=Silent;Gene=SLC4A10/NM_022058.3/0;CC=c.393C>T;ProtCh=p.D131=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:117:82:0:0:1,67,49:11,2173,1595:-0.15,0.00,148.55:-0.13,0.00,59.52:-0.01,0.00,89.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:98.0,7.6,34.1:0,0,0:0,0,0:31,84,71:119,51,76:0,28,28:-,NM_001178015.1(SLC4A10) c.393C>T (p.(=)):-,0.08:-,0.049726 2 162696438 . G . . NT END=162711479;NT GT ./. 2 162711641 . G . . NT END=162719383;NT GT ./. 2 162711682 rs41267441 A C 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.9305,C/0.06949;PC=0.009;Gene=SLC4A10/NM_001178015.1/1;CC=c.577+42A>C;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.610+42A>C;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.577+42A>C;VC=Intron;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:13:0:0:18,24:588,806:0.00,79.57:0.00,15.62:0.00,63.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,35.2:0,0:0,0:79,88:70,61:35,20:-,NM_001178015.1(SLC4A10) c.577+42A>C:-,0.08:-,0.050367 2 162719573 . G . . NT END=162728802;NT GT ./. 2 162728895 . G . . NT END=162730425;NT GT ./. 2 162730312 rs35292746 T C 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4213,C/0.5787;Gene=SLC4A10/NM_001178015.1/1;CC=c.859-114T>C;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.891+1418T>C;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.858+1418T>C;VC=Intron;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:42:0:0:20,22:626,723:59.51,0.00:59.51,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.5,15.0:0,0:0,0:34,33:117,117:23,22:NM_001178015.1(SLC4A10) c.859-114T>C,-:0.61,-:NOT_FOUND,- 2 162730516 . G . . NT END=162735640;NT GT ./. 2 162735799 . G . . NT END=162738866;NT GT ./. 2 162738781 rs41267443 T C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9245,C/0.07548;Gene=SLC4A10/NM_001178015.1/1;CC=c.1107-86T>C;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.1050-86T>C;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.1017-86T>C;VC=Intron;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto;DM=SLC4A10/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,T:4:4:0:0:2,2:72,66:6.95,0.00:7.10,0.00:-0.15,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:36.0,0.0:0,0:0,0:70,80:80,71:27,1:NM_001178015.1(SLC4A10) c.1107-86T>C,-:0.08,-:NOT_FOUND,- 2 162738955 . G . . NT END=162751188;NT GT ./. 2 162751336 . G . . NT END=162757420;NT GT ./. 2 162757381 rs57302863 TAAAAC T 45 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=TAAAAC/0.9245,T/0.07548;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TAAAAC/0.9245,T/0.07548;NP=111;PC=0.979;Gene=SLC4A10/NM_001178015.1/1;CC=c.1342-28_1342-24delAAACA;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.1285-28_1285-24delAAACA;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.1252-28_1252-24delAAACA;VC=Intron;DM=SLC4A10/HCO3_cotransp;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAAAC,T:23:18:0:15:8,15:210,440:0.00,44.50:0.00,28.78:0.00,15.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.1,7.1:0,0:0,0:28,47:122,103:12,12:-,NM_001178015.1(SLC4A10) c.1342-39_1342-35delAAAAC:-,NOT_FOUND:-,0.059448 2 162757522 . G . . NT END=162760513;NT GT ./. 2 162757676 rs6754546 A G 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4519,G/0.5481;Gene=SLC4A10/NM_001178015.1/1;CC=c.1442+155A>G;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.1385+155A>G;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.1352+155A>G;VC=Intron;DM=SLC4A10/HCO3_cotransp;DM=SLC4A10/HCO3_cotransp;DM=SLC4A10/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,G:12:0:0:0:6,6:176,184:0.00,17.62:0.00,0.00:0.00,17.62:0.00,0.98:0.00,0.00:0.00,0.98:60,60:5.8,40.7:0,0:0,0:120,111:30,39:21,22:-,NM_001178015.1(SLC4A10) c.1442+155A>G:-,0.58:-,NOT_FOUND 2 162760689 . G . . NT END=162761285;NT GT ./. 2 162761420 . G . . NT END=162762151;NT GT ./. 2 162761535 rs62188820 T A 37 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.9249,A/0.07508;PC=0.213;Gene=SLC4A10/NM_001178015.1/1;CC=c.1751+116T>A;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.1694+116T>A;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.1661+116T>A;VC=Intron;DM=SLC4A10/HCO3_cotransp;DM=SLC4A10/HCO3_cotransp;DM=SLC4A10/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:27:5:0:0:12,1,14:392,13,450:37.12,0.26,0.00:0.95,-0.05,0.00:36.18,0.31,0.00:1.00,0.00,0.00:0.94,0.00,0.00:1.00,0.00,0.00:60,60,60:32.7,23.0,0.0:0,0,0:0,0,0:117,77,116:33,73,34:18,0,24:NM_001178015.1(SLC4A10) c.1751+116T>A,-:0.08,-:NOT_FOUND,- 2 162762034 rs72865241 G A 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.9249,A/0.07508;PC=0.006;Gene=SLC4A10/NM_001178015.1/1;CC=c.1752-118G>A;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.1695-118G>A;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.1662-118G>A;VC=Intron;DM=SLC4A10/HCO3_cotransp;DM=SLC4A10/HCO3_cotransp;DM=SLC4A10/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:33:0:0:18,17:522,556:50.16,0.00:45.31,0.00:4.86,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:39.3,8.3:0,0:0,0:27,55:122,96:19,25:NM_001178015.1(SLC4A10) c.1752-118G>A,-:0.08,-:NOT_FOUND,- 2 162762398 . G . . NT END=162799301;NT GT ./. 2 162799408 . G . . NT END=162804075;NT GT ./. 2 162804238 . G . . NT END=162805657;NT GT ./. 2 162805772 . G . . NT END=162807196;NT GT ./. 2 162807359 . G . . NT END=162813498;NT GT ./. 2 162813751 . G . . NT END=162814996;NT GT ./. 2 162815066 . G . . NT END=162820644;NT GT ./. 2 162820819 . G . . NT END=162821560;NT GT ./. 2 162821515 rs4233647 G A 172 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.757,A/0.243;Gene=SLC4A10/NM_001178015.1/1;CC=c.3037-46G>A;VC=Intron;Gene=SLC4A10/NM_001178016.1/0;CC=c.2980-46G>A;VC=Intron;Gene=SLC4A10/NM_022058.3/0;CC=c.2947-46G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A:45:44:0:0:45:1502:171.64:146.24:25.40:1.00:1.00:1.00:60:41.3:0:0:72:79:35:NM_001178015.1(SLC4A10) c.3037-46G>A,NM_001178015.1(SLC4A10) c.3037-46G>A:0.23,0.23:0.336862,0.336862 2 162821684 . G . . NT END=162830758;NT GT ./. 2 162830827 . G . . NT END=162833269;NT GT ./. 2 162833387 . G . . NT END=162834231;NT GT ./. 2 162834271 . G . . NT END=162839688;NT GT ./. 2 162839756 . C . . NT END=162849792;NT GT ./. 2 162839758 rs56405894 C T 55 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.9972,T/0.002796;NP=9;PC=1.000;Gene=SLC4A10/NM_001178015.1/1;CC=c.*96C>T;VC=3UTR;Gene=SLC4A10/NM_001178016.1/0;CC=c.*96C>T;VC=3UTR;Gene=SLC4A10/NM_022058.3/0;CC=c.*96C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:36:21:0:0:1,18,17:8,572,578:-0.07,0.00,55.38:-0.07,0.00,23.15:0.00,0.00,32.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:162.0,2.9,35.3:0,0,0:0,0,0:37,106,103:103,44,41:0,27,21:-,NM_001178015.1(SLC4A10) c.*96C>T:-,0.0041:-,NOT_FOUND 2 162849895 . C . . NT END=162851470;NT GT ./. 2 162851545 . C . . NT END=162851809;NT GT ./. 2 162851883 . C . . NT END=162862254;NT GT ./. 2 162862320 . C . . NT END=162865071;NT GT ./. 2 162862373 rs41268647 C T 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.9972,T/0.002796;Gene=DPP4/NM_001935.3/1;CC=c.1988-54G>A;VC=Intron;DM=DPP4/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:5:0:0:11,17:341,544:0.00,54.37:0.00,4.49:0.00,49.88:0.00,1.00:0.00,0.99:0.00,1.00:60,60:18.5,38.7:0,0:0,0:123,114:25,37:27,21:-,NM_001935.3(DPP4) c.1988-54G>A:-,0.03:-,NOT_FOUND 2 162865172 . C . . NT END=162865750;NT GT ./. 2 162865806 . C . . NT END=162868302;NT GT ./. 2 162868498 . C . . NT END=162870905;NT GT ./. 2 162870976 . C . . NT END=162873277;NT GT ./. 2 162873377 . C . . NT END=162873617;NT GT ./. 2 162873666 . C . . NT END=162875238;NT GT ./. 2 162875268 rs201558355 T C 94 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.010;Gene=DPP4/NM_001935.3/1;CC=c.1391A>G;ProtCh=p.E464G;VC=Missense;DM=DPP4/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:38:0:0:31,35:991,1188:94.07,0.00:35.08,0.00:58.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,5.9:0,0:0,0:96,85:41,66:32,44:NM_001935.3(DPP4) c.1391A>G (p.Glu464Gly),-:NOT_FOUND,-:0.000077,- 2 162875361 . C . . NT END=162875732;NT GT ./. 2 162875787 . C . . NT END=162876738;NT GT ./. 2 162876807 . C . . NT END=162877090;NT GT ./. 2 162876828 rs540682017 CA C 13 idl,rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=CA/0.4109,C/0.5891;DB;DBA=NA;PAF=CA/0.4109,C/0.5891;NP=235;PC=0.003;Gene=DPP4/NM_001935.3/1;CC=c.1177-23delT;VC=Intron;DM=DPP4/DPPIV_N;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,CA,T,I,C:24:12:1:7:2,12,4,1,5:19,324,48,32,179:0.48,0.00,2.75,2.07,12.94:-0.13,0.00,2.95,-0.06,5.42:0.60,0.00,-0.20,2.13,7.51:0.00,0.00,0.00,0.00,0.83:0.00,0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.00,0.95:60,60,60,60,60:93.0,11.2,22.5,125.0,48.2:0,0,0,0,1:0,0,0,0,0:61,86,122,117,82:67,57,21,33,67:1,29,15,0,19:-,NM_001935.3(DPP4) c.1177-23delT:-,NOT_FOUND:-,NOT_FOUND 2 162877199 . C . . NT END=162879264;NT GT ./. 2 162879310 . C . . NT END=162881313;NT GT ./. 2 162881450 . C . . NT END=162890050;NT GT ./. 2 162890142 rs56179129 C T 71 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.9976,T/0.002396;NP=36;PC=1.000;Gene=DPP4/NM_001935.3/1;CC=c.796G>A;ProtCh=p.V266I;VC=Missense;DM=DPP4/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:37:0:0:32,24:1053,765:0.00,71.35:0.00,34.77:0.00,36.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,46.1:0,0:0,0:100,106:48,42:26,14:-,NM_001935.3(DPP4) c.796G>A (p.Val266Ile):-,0.0037:-,0.004536 2 162890164 . C . . NT END=162891673;NT GT ./. 2 162890196 . CA C 7 rn VT=DEL;SST=Single;DP=24;NP=4;PC=0.001;Gene=DPP4/NM_001935.3/1;CC=c.775-34delT;VC=Intron;DM=DPP4/DPPIV_N;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:CA,I,C:24:8:3:3:18,3,3:532,91,94:0.00,6.78,7.08:0.00,2.64,1.26:0.00,4.14,5.83:0.00,0.00,0.47:0.00,0.00,0.61:0.00,0.00,0.87:60,60,60:49.4,3.3,33.0:0,0,0:0,0,0:112,67,95:34,84,56:16,18,37:-,NM_001935.3(DPP4) c.775-34delT:-,NOT_FOUND:-,0.067295 2 162891835 . C . . NT END=162894811;NT GT ./. 2 162894933 . C . . NT END=162895458;NT GT ./. 2 162895532 . C . . NT END=162895641;NT GT ./. 2 162895695 . C . . NT END=162902041;NT GT ./. 2 162902123 . C . . NT END=162903424;NT GT ./. 2 162903517 . C . . NT END=162903912;NT GT ./. 2 162904012 . C . . NT END=162929908;NT GT ./. 2 162929709 rs1861978 T G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8141,G/0.1859;Gene=DPP4/NM_001935.3/1;CC=c.94+200A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:G,T:10:10:0:0:5,5:174,138:16.80,0.00:16.80,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:69.6,1.6:0,0:0,0:18,76:133,75:4,48:NM_001935.3(DPP4) c.94+200A>C,-:0.18,-:NOT_FOUND,- 2 162929732 rs35128070 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8207,A/0.1793;PC=0.001;Gene=DPP4/NM_001935.3/1;CC=c.94+177C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,G:12:12:0:0:5,7:174,200:16.25,0.00:16.25,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:69.6,19.3:0,0:0,0:41,51:110,100:4,48:NM_001935.3(DPP4) c.94+177C>T,-:0.17,-:NOT_FOUND,- 2 162929979 rs17574 A G 137 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.7873,G/0.2127;PC=0.997;Gene=DPP4/NM_001935.3/1;CC=c.24T>C;ProtCh=p.L8=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:87:58:0:0:42,44,1:1378,1422,7:0.00,137.24,-0.15:0.00,55.01,-0.09:0.00,82.23,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.0,42.0,43.0:0,0,0:0,0,0:88,78,92:59,71,55:28,31,0:-,NM_001935.3(DPP4) c.24T>C (p.(=)):-,0.21:-,0.308781 2 162929997 . C . . NT END=162930485;NT GT ./. 2 162930976 . g . . NT END=162999873;NT GT ./. 2 162933561 rs2075340 A T 97 nt VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.4413,T/0.5587 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:56:33:0:0:24,32:762,981:0.00,96.64:0.00,52.81:0.00,43.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.7,36.1:0,0:0,0:55,92:94,58:46,35:-,NM_001935.3(DPP4) c.-561-u2509T>A:-,0.51:-,NOT_FOUND 2 162979921 rs10930043 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5917,G/0.4083;NP=1;Gene=LOC101929532/NR_110255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:3:0:0:4:99:11.68:5.82:5.87:1.00:1.00:1.00:60:57.8:3:0:91:57:25:chr2 g.162979920A>G (intergenic),chr2 g.162979920A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162979923 rs55993326 GCACACA T,G 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=78;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:T,G:4:3:0:3:1,3:10,99:0.88,10.96:0.88,5.38:0.00,5.58:0.00,0.85:0.00,0.99:0.00,0.95:60,60:112.0,38.0:0,0:0,0:129,80:20,69:0,23:chr2 g.162979923_162979929delGCACACAinsT (intergenic),chr2 g.162979924_162979929delCACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 162999881 . C . . NT END=163000536;NT GT ./. 2 163000681 . C . . NT END=163002049;NT GT ./. 2 163002188 . C . . NT END=163003862;NT GT ./. 2 163004025 . C . . NT END=163005596;NT GT ./. 2 163005689 . T . . NT END=163027488;NT GT ./. 2 163027591 . C . . NT END=163029320;NT GT ./. 2 163029395 . C . . NT END=163029658;NT GT ./. 2 163029732 . C . . NT END=163030232;NT GT ./. 2 163030298 . C . . NT END=163031376;NT GT ./. 2 163030336 rs3764917 T C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.7885,C/0.2115;PC=0.001;Gene=FAP/NM_001291807.1/0;CC=c.1895-39A>G;VC=Intron;Gene=FAP/NM_004460.3/1;CC=c.1970-39A>G;VC=Intron;DM=FAP/Peptidase_S9;DM=FAP/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:16:0:0:11,14:342,478:32.00,0.00:17.10,0.00:14.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.5,4.3:0,0:0,0:118,87:33,63:15,12:NM_004460.2(FAP) c.1970-39A>G,-:0.17,-:0.136441,- 2 163031477 . C . . NT END=163039923;NT GT ./. 2 163039979 . C . . NT END=163044678;NT GT ./. 2 163044874 . C . . NT END=163045612;NT GT ./. 2 163045683 . C . . NT END=163046165;NT GT ./. 2 163046265 . C . . NT END=163051210;NT GT ./. 2 163051259 . C . . NT END=163054688;NT GT ./. 2 163051415 rs1468916 C T 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.003395,T/0.9966;NP=1699;Gene=FAP/NM_001291807.1/0;CC=c.1328-157G>A;VC=Intron;Gene=FAP/NM_004460.3/1;CC=c.1403-157G>A;VC=Intron;DM=FAP/DPPIV_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:295:33.79:0.00:33.79:1.00:0.00:1.00:60:39.2:0:0:103:46:29:NM_004460.2(FAP) c.1403-157G>A,NM_004460.2(FAP) c.1403-157G>A:1,1:NOT_FOUND,NOT_FOUND 2 163054809 . C . . NT END=163055266;NT GT ./. 2 163055392 . C . . NT END=163057075;NT GT ./. 2 163057130 . C . . NT END=163059381;NT GT ./. 2 163059453 . C . . NT END=163059550;NT GT ./. 2 163059656 . C . . NT END=163066461;NT GT ./. 2 163066507 . C . . NT END=163070447;NT GT ./. 2 163070584 . C . . NT END=163072407;NT GT ./. 2 163072512 . C . . NT END=163074495;NT GT ./. 2 163074651 . C . . NT END=163075572;NT GT ./. 2 163075694 . C . . NT END=163076362;NT GT ./. 2 163076436 . C . . NT END=163080117;NT GT ./. 2 163080171 . C . . NT END=163080975;NT GT ./. 2 163081051 . C . . NT END=163081992;NT GT ./. 2 163082088 . C . . NT END=163083032;NT GT ./. 2 163083132 . C . . NT END=163099417;NT GT ./. 2 163099503 . C . . NT END=163099831;NT GT ./. 2 163099917 . A . . NT END=163123709;NT GT ./. 2 163123890 . C . . NT END=163123988;NT GT ./. 2 163124051 rs1990760 C T 38 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.6434,T/0.3566;PC=0.976;Gene=IFIH1/NM_022168.3/1;CC=c.2836G>A;ProtCh=p.A946T;VC=Missense;DM=IFIH1/RIG-I_C-RD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:23:0:0:31,14:1051,434:0.00,37.96:0.00,8.34:0.00,29.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,38.2:0,0:0,0:92,84:57,66:31,32:-,NM_022168.3(IFIH1) c.2836G>A (p.Ala946Thr):-,0.37:-,0.461402 2 163124080 . C . . NT END=163124596;NT GT ./. 2 163124788 . C . . NT END=163128735;NT GT ./. 2 163128824 rs3747517 T C 208 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.4101,C/0.5899;PC=1.000;Gene=IFIH1/NM_022168.3/1;CC=c.2528A>G;ProtCh=p.H843R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:C:58:38:0:0:58:1807:208.27:110.66:97.61:1.00:1.00:1.00:60:37.5:0:0:69:78:38:NM_022168.3(IFIH1) c.2528A>G (p.His843Arg),NM_022168.3(IFIH1) c.2528A>G (p.His843Arg):0.61,0.61:0.691604,0.691604 2 163128898 . C . . NT END=163130304;NT GT ./. 2 163130455 . C . . NT END=163133196;NT GT ./. 2 163133457 . C . . NT END=163133924;NT GT ./. 2 163134204 . C . . NT END=163134714;NT GT ./. 2 163134839 . C . . NT END=163136505;NT GT ./. 2 163136505 rs35337543 C G 43 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9944,G/0.005591,T/.;PC=1.000;Gene=IFIH1/NM_022168.3/1;CC=c.1641+1G>C;VC=SpliceSiteCDS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:22:0:0:9,14:294,435:0.00,43.44:0.00,29.92:0.00,13.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,34.9:0,0:0,0:30,53:121,97:21,30:-,NM_022168.3(IFIH1) c.1641+1G>C:-,0.01:-,0.00815 2 163136623 . C . . NT END=163137837;NT GT ./. 2 163138056 . C . . NT END=163138875;NT GT ./. 2 163139087 . C . . NT END=163144644;NT GT ./. 2 163144866 . C . . NT END=163150073;NT GT ./. 2 163150179 . C . . NT END=163163218;NT GT ./. 2 163163366 . C . . NT END=163167274;NT GT ./. 2 163167444 . C . . NT END=163174364;NT GT ./. 2 163174818 . C . . NT END=163200758;NT GT ./. 2 163200786 . G . . NT END=163204087;NT GT ./. 2 163204253 . G . . NT END=163208847;NT GT ./. 2 163208918 . G . . NT END=163212947;NT GT ./. 2 163212992 . G . . NT END=163213267;NT GT ./. 2 163213416 . G . . NT END=163215553;NT GT ./. 2 163215668 . G . . NT END=163216003;NT GT ./. 2 163216063 . G . . NT END=163216726;NT GT ./. 2 163217812 rs3209790 C T 95 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.9734,T/0.02656;Gene=GCA/NM_012198.3/1;CC=c.*1059C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:36:0:0:32,32:1026,986:0.00,94.56:0.00,33.19:0.00,61.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,43.8:0,0:0,0:80,71:69,79:27,32:-,NM_012198.3(GCA) c.*1059C>T:-,0.03:-,NOT_FOUND 2 163219150 . G . . NT END=163227815;NT GT ./. 2 163228000 . A . . NT END=163228338;NT GT ./. 2 163228606 . C . . NT END=163229979;NT GT ./. 2 163230173 . C . . NT END=163236362;NT GT ./. 2 163236459 . A . . NT END=163241197;NT GT ./. 2 163241450 . C . . NT END=163250898;NT GT ./. 2 163250996 . C . . NT END=163253249;NT GT ./. 2 163253456 . C . . NT END=163256698;NT GT ./. 2 163256952 . C . . NT END=163279756;NT GT ./. 2 163280046 . C . . NT END=163291707;NT GT ./. 2 163292108 . C . . NT END=163302527;NT GT ./. 2 163302954 . C . . NT END=163360952;NT GT ./. 2 163336183 rs78401484 ATGTG A 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=62;PC=0.113;Gene=KCNH7/NM_033272.3/1;CC=c.1128+24766_1128+24769delCACA;VC=Intron;Gene=KCNH7/NM_173162.2/0;CC=c.1107+24766_1107+24769delCACA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:ATGTG,A:4:4:0:3:1,3:35,97:0.00,10.15:0.00,8.63:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,4.7:0,0:0,0:59,76:92,63:0,27:-,NM_033272.3(KCNH7) c.1128+24766_1128+24769delCACA:-,NOT_FOUND:-,NOT_FOUND 2 163361168 . C . . NT END=163369163;NT GT ./. 2 163369185 . C . . NT END=163374239;NT GT ./. 2 163374669 . C . . NT END=163393434;NT GT ./. 2 163393591 . C . . NT END=163693046;NT GT ./. 2 163693278 . C . . NT END=163694952;NT GT ./. 2 163694878 rs4667768 C G 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.3932,G/0.6068;PC=0.013;Gene=KCNH7/NM_033272.3/1;CC=c.76+75G>C;VC=Intron;Gene=KCNH7/NM_173162.2/0;CC=c.76+75G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:29:29:0:0:18,11:596,348:0.00,31.68:0.00,32.10:0.00,-0.41:0.00,1.00:0.00,1.00:0.00,0.85:60,60:5.4,74.6:0,0:0,0:45,9:105,142:27,7:-,NM_033272.3(KCNH7) c.76+75G>C:-,0.56:-,NOT_FOUND 2 163694886 rs4667769 G A 37 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.5609,A/0.4391;PC=0.046;Gene=KCNH7/NM_033272.3/1;CC=c.76+67C>T;VC=Intron;Gene=KCNH7/NM_173162.2/0;CC=c.76+67C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:29:0:0:13,19:400,663:36.79,0.00:31.40,0.00:5.39,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:67.7,4.7:0,0:0,0:15,34:135,117:10,22:NM_033272.3(KCNH7) c.76+67C>T,-:0.44,-:NOT_FOUND,- 2 163695029 . G . . NT END=164466061;NT GT ./. 2 163781680 rs3052963 T TCACA 19 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2196,TCA/0.3714,TCACA/0.3209,TCACACA/0.07568,TCACACACA/0.005591,TCACACACACA/0.006789;DB;DBA=NA;PAF=T/0.2196,TCA/0.3714,TCACA/0.3209;NP=2;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TCACA:5:3:5:0:5:165:18.88:9.44:9.44:1.00:1.00:1.00:60:6.8:0:0:59:92:35:chr2 g.163781680_163781681insCACA (intergenic),chr2 g.163781680_163781681insCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 163786254 rs200334115 T C 16 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:138:15.71:8.05:7.65:1.00:1.00:1.00:60:7.8:4:0:95:55:9:chr2 g.163786253T>C (intergenic),chr2 g.163786253T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 163821969 rs7585233 C T 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.132,T/0.868 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:4:0:0:6:180:20.82:11.53:9.29:1.00:1.00:1.00:60:38.0:0:0:59:91:9:chr2 g.163821968C>T (intergenic),chr2 g.163821968C>T (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 2 163821993 rs71410058 C CGTGTGTGTGTGT 13 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1318,CGTGTGT/.,CGTGTGTGT/.,CGTGTGTGTGT/0.8682,CGTGTGTGTGTGT/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1318,CGT/.,CGTGTGT/.,CGTGTGTGT/.,CGTGTGTGTGT/0.8682,CGTGTGTGTGTGT/.;NP=1;NP=1;NP=27;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,CGTGTGTGTGTGT:6:4:4:0:2,4:70,127:0.00,12.95:0.00,4.59:0.00,8.36:0.00,0.93:0.00,0.99:0.00,0.99:60,60:29.0,33.5:0,0:0,0:109,77:25,73:1,4:-,chr2 g.163821993_163821994insGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 163828693 rs7558072 C A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1831,A/0.8169 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:131:15.01:9.84:5.16:1.00:1.00:1.00:60:41.2:0:0:68:82:41:chr2 g.163828692C>A (intergenic),chr2 g.163828692C>A (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 2 163933423 rs559652879 A AGT 15 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=130;NP=5;PC=0.001;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AGT:4:2:4:0:4:126:14.51:7.05:7.45:1.00:1.00:1.00:60:8.2:0:0:61:89:31:chr2 g.163933423_163933424insGT (intergenic),chr2 g.163933423_163933424insGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 164320658 rs199762856 CTGTGTG C 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=14;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:CTGTGTG,C:3:4:0:3:1,2:36,94:0.00,6.35:0.00,3.02:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,39.0:0,1:0,0:114,36:37,85:0,11:-,chr2 g.164320659_164320664delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 164320750 rs2704369 G A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4263,A/0.5737,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:162:18.58:4.56:14.02:1.00:1.00:1.00:60:41.8:0:0:92:55:10:chr2 g.164320749G>A (intergenic),chr2 g.164320749G>A (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 2 164341554 rs75919784 T TTGTGTG 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;NP=8;NP=8;PC=0.006;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:T,TTGTGTG:5:5:3:0:2,3:56,93:0.00,9.27:0.00,6.41:0.00,2.86:0.00,0.78:0.00,0.78:0.00,0.97:60,60:12.0,6.3:0,0:0,0:89,30:56,120:6,3:-,chr2 g.164341554_164341555insTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 164381648 rs3098650 C G 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.505,G/0.495;PC=0.136 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:8:0:0:9:301:34.39:22.76:11.63:1.00:1.00:1.00:60:58.8:0:0:46:98:11:chr2 g.164381647C>G (intergenic),chr2 g.164381647C>G (intergenic):0.51,0.51:NOT_FOUND,NOT_FOUND 2 164381697 rs71015587 GTA G 19 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=109;PC=0.115;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:GTA,G:7:6:0:8:1,6:34,172:0.00,18.61:0.00,8.83:0.00,9.78:0.00,1.00:0.00,1.00:0.00,1.00:32,60:64.0,61.5:0,0:0,0:96,87:18,50:0,13:-,chr2 g.164381698_164381699delTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 164466039 rs397725251 AT A 223 rn VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2576;PC=1.000;Gene=FIGN/NM_018086.2/1;CC=c.*22delA;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:AT,A:72:67:0:66:7,65:213,2019:0.00,222.94:0.00,180.12:0.00,42.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.4,14.5:0,0:0,0:106,46:45,102:43,22:-,NM_018086.2(FIGN) c.*13A[9]:-,NOT_FOUND:-,NOT_FOUND 2 164468317 . C . . NT END=164468838;NT GT ./. 2 164468414 rs2231898 T C 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6324,C/0.3676;Gene=FIGN/NM_018086.2/1;CC=c.26-98A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:2:0:0:15,21:426,651:39.08,0.00:2.98,0.00:36.10,0.00:1.00,0.00:0.72,0.00:1.00,0.00:60,60:61.6,35.5:0,2:0,0:119,103:30,45:18,32:NM_018086.2(FIGN) c.26-98A>G,-:0.4,-:NOT_FOUND,- 2 164469095 . C . . NT END=164473624;NT GT ./. 2 164469097 rs528342802 G GA 174 idl,rn VT=INS;SST=Single;DP=157;DB;DBA=NA;PAF=G/0.8916,GA/0.1084;DB;DBA=NA;PAF=G/0.8916,GA/0.1084;NP=1;NP=161;PC=0.982;Gene=FIGN/NM_018086.2/1;CC=c.26-782dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:154:78:64:2:91,61,2:2846,1990,64:0.00,173.76,3.08:0.00,61.93,0.78:0.00,111.82,2.30:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:22.7,12.1,4.0:2,3,0:0,0,0:102,80,73:41,62,41:35,30,53:-,NM_018086.2(FIGN) c.26-782_26-781insT:-,NOT_FOUND:-,NOT_FOUND 2 164469186 rs12692701 G T 112 nt VT=SNV;PN=G;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.629,T/0.371;PC=0.753;Gene=FIGN/NM_018086.2/1;CC=c.26-870C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:79:17:0:0:1,39,39:13,1182,1166:0.02,0.00,111.70:0.21,0.00,14.69:-0.19,0.00,97.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.0,15.7,48.2:0,0,0:0,0,0:144,98,110:6,51,38:0,19,22:-,NM_018086.2(FIGN) c.26-870C>A:-,0.4:-,NOT_FOUND 2 164469202 rs138312548 A ATGTG 37 idl,rn VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.4794,ATG/0.1997,ATGTG/0.2853;DB;DBA=NA;PAF=A/0.4794,ATG/0.1997,ATGTG/0.2853,ATGTGTG/0.03554;NP=1;NP=69;NP=87;Gene=FIGN/NM_018086.2/1;CC=c.26-887_26-886insCACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,ATGTG,D:66:10:16:3:46,1,2,14,3:1399,12,32,499,98:0.00,-0.08,0.78,36.58,6.27:0.00,-0.03,-0.06,1.05,2.23:0.00,-0.05,0.85,35.54,4.04:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.85,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:38.4,12.0,79.0,13.8,30.3:2,0,0,2,0:0,0,0,0,0:115,0,74,100,92:32,151,58,50,59:18,0,64,7,7:-,NM_018086.2(FIGN) c.26-887_26-886insCACA:-,NOT_FOUND:-,NOT_FOUND 2 164469259 rs67888170 CAT C 20 rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=CAT/0.5102,C/0.4898;DB;DBA=NA;PAF=CAT/0.5102,C/0.4898;NP=90;Gene=FIGN/NM_018086.2/1;CC=c.26-945_26-944delAT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAT,G,C:27:0:0:9:18,1,8:499,14,234:0.00,0.27,20.26:0.00,0.00,0.00:0.00,0.27,20.26:0.00,0.00,0.98:0.00,0.00,0.00:0.00,0.00,0.98:60,60,60:29.0,55.0,23.4:0,0,0:0,0,0:100,39,73:48,111,77:39,0,19:-,NM_018086.2(FIGN) c.26-945_26-944delAT:-,NOT_FOUND:-,NOT_FOUND 2 164473446 rs10445755 A G 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1042,G/0.8958;Gene=FIGN/NM_018086.2/1;CC=c.26-5130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:367:41.94:41.94:0.00:1.00:1.00:0.00:60:47.3:0:0:52:98:14:NM_018086.2(FIGN) c.26-5130T>C,NM_018086.2(FIGN) c.26-5130T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 2 164473753 rs12692702 A T 73 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6294,T/0.3706;PC=0.002;Gene=FIGN/NM_018086.2/1;CC=c.26-5437T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:24:0:0:21,23:633,754:0.00,73.12:0.00,26.47:0.00,46.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,42.7:0,0:0,0:103,77:44,73:37,34:-,NM_018086.2(FIGN) c.26-5437T>A:-,0.41:-,NOT_FOUND 2 164473769 . T . . NT END=164591412;NT GT ./. 2 164587010 rs74933019 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9285,A/0.07149;Gene=FIGN/NM_018086.2/1;CC=c.25+4403C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:A,C,G:7:4:0:0:3,1,3:99,10,74:9.51,0.48,0.00:4.97,-0.07,0.00:4.54,0.54,0.00:0.69,0.00,0.00:0.89,0.00,0.00:0.95,0.00,0.00:60,60,60:40.0,15.0,14.3:2,1,3:0,0,0:62,46,70:47,105,78:7,0,3:NM_018086.2(FIGN) c.25+4403C>T,-:0.08,-:NOT_FOUND,- 2 164587014 rs59444555 T G,TTG 12 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=66 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:G,T,TTG:6:4:5:0:1,1,4:34,33,151:2.97,0.00,12.27:0.00,0.00,5.00:2.97,0.00,7.27:0.00,0.00,0.90:0.00,0.00,0.97:0.00,0.00,0.99:60,60,60:43.0,33.0,25.5:0,0,1:0,0,0:77,124,59:74,27,70:0,0,9:NM_018086.2(FIGN) c.25+4399A>C,NM_018086.2(FIGN) c.25+4398_25+4399insCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 164591438 . T . . NT END=165349545;NT GT ./. 2 164630162 rs75000171 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9435,A/0.05651;PC=0.072 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:3:0:0:3,1:83,35:8.75,0.00:5.90,0.00:2.85,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:47.7,0.0:0,0:0,0:71,45:79,105:0,0:chr2 g.164630161G>A (intergenic),-:0.05,-:NOT_FOUND,- 2 164737809 rs67524725 TTGTGTGTGTG T 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;PC=0.002;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:TTGTGTGTGTG,T:3:4:0:4:1,2:21,129:0.00,6.54:0.00,4.90:0.00,1.64:0.00,0.46:0.00,0.87:0.00,0.70:60,60:35.0,16.5:0,2:0,0:135,67:16,79:0,26:-,chr2 g.164737810_164737819delTGTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 164817417 . TAC T 7 idl,rn VT=DEL;SST=Single;DP=5;NP=25;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TAC,T:3:3:0:4:1,2:34,120:0.00,6.54:0.00,1.47:0.00,5.07:0.00,0.46:0.00,0.80:0.00,0.80:60,60:63.0,32.5:0,2:0,0:69,56:82,92:0,5:-,chr2 g.164817418_164817419delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 165236412 rs10203968 A G 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5471,G/0.4529 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:148:17.16:11.43:5.73:1.00:1.00:1.00:60:43.2:0:0:62:89:4:chr2 g.165236411A>G (intergenic),chr2 g.165236411A>G (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 2 165347682 rs72872575 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4167,CACACAT/.,CAT/0.5833;DB;DBA=NA;PAF=NA;NP=15;NP=3;NP=333;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:3:0:0:1,3:35,101:0.00,10.55:0.00,3.40:0.00,7.15:0.00,0.85:0.00,0.99:0.00,0.85:7,60:0.0,79.7:0,0:0,0:25,50:14,72:0,33:-,chr2 g.165347681C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 165347686 rs71018328 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4167,C/0.5833;DB;DBA=NA;PAF=NA;NP=3;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:3:0:0:3,1:103,33:10.75,0.00:3.50,0.00:7.25,0.00:0.85,0.00:0.99,0.00:0.85,0.00:60,7:79.7,0.0:0,0:0,0:54,29:68,10:33,0:chr2 g.165347685T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 165349459 rs1051160 G A 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.5076,A/0.4924;Gene=GRB14/NM_001303422.1/0;CC=c.*87C>T;VC=3UTR;Gene=GRB14/NM_004490.2/1;CC=c.*87C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:24:0:0:11,14:353,447:33.10,0.00:28.57,0.00:4.53,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:38.5,4.9:0,0:0,0:47,36:94,114:36,24:NM_004490.2(GRB14) c.*87C>T,-:0.52,-:NOT_FOUND,- 2 165349693 . C . . NT END=165350940;NT GT ./. 2 165349840 rs34511564 GT G 27 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GT/0.5661,G/0.4339;NP=375;Gene=GRB14/NM_001303422.1/0;CC=c.1216-149delA;VC=Intron;Gene=GRB14/NM_004490.2/1;CC=c.1477-149delA;VC=Intron;DM=GRB14/SH2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:19:0:0:9:10,9:313,286:0.00,27.20:0.00,0.00:0.00,27.20:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.1,13.4:0,0:0,0:125,116:26,35:20,14:-,NM_004490.2(GRB14) c.1477-149delA:-,NOT_FOUND:-,NOT_FOUND 2 165349902 rs3828191 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.489,T/0.511;Gene=GRB14/NM_001303422.1/0;CC=c.1216-210G>A;VC=Intron;Gene=GRB14/NM_004490.2/1;CC=c.1477-210G>A;VC=Intron;DM=GRB14/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:0:0:0:2,3:69,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,33.3:0,0:0,0:87,82:63,69:0,6:-,NM_004490.2(GRB14) c.1477-210G>A:-,0.54:-,NOT_FOUND 2 165351035 . C . . NT END=165353517;NT GT ./. 2 165351208 rs1451892 C T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4954,T/0.5046;Gene=GRB14/NM_001303422.1/0;CC=c.1122-174G>A;VC=Intron;Gene=GRB14/NM_004490.2/1;CC=c.1383-174G>A;VC=Intron;DM=GRB14/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:7:0:0:0:4,3:140,98:0.00,9.16:0.00,0.00:0.00,9.16:0.00,0.69:0.00,0.00:0.00,0.69:60,60:11.8,32.7:0,0:0,0:105,79:46,71:4,13:-,NM_004490.2(GRB14) c.1383-174G>A:-,0.53:-,NOT_FOUND 2 165353289 rs551160 C T 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.03055,T/0.9694;PC=0.001;Gene=GRB14/NM_001303422.1/0;CC=c.1121+229G>A;VC=Intron;Gene=GRB14/NM_004490.2/1;CC=c.1382+229G>A;VC=Intron;DM=GRB14/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:258:30.03:30.03:0.00:1.00:1.00:0.00:60:28.7:0:0:36:115:30:NM_004490.2(GRB14) c.1382+229G>A,NM_004490.2(GRB14) c.1382+229G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 165353606 . C . . NT END=165353720;NT GT ./. 2 165353712 rs8192673 C T 121 nt VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.3998,T/0.6002;Gene=GRB14/NM_001303422.1/0;CC=c.1033+9G>A;VC=Intron;Gene=GRB14/NM_004490.2/1;CC=c.1294+9G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:53:0:0:37,38:1234,1253:0.00,120.87:0.00,70.83:0.00,50.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,35.9:0,0:0,0:62,62:88,88:36,40:-,NM_004490.2(GRB14) c.1294+9G>A:-,0.63:-,0.710595 2 165353794 . C . . NT END=165353883;NT GT ./. 2 165354001 . C . . NT END=165358764;NT GT ./. 2 165358672 rs4667463 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3107,G/0.6893;Gene=GRB14/NM_001303422.1/0;CC=c.843+93T>C;VC=Intron;Gene=GRB14/NM_004490.2/1;CC=c.1104+93T>C;VC=Intron;DM=GRB14/BPS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:16:15:0:0:11,5:350,138:0.00,11.86:0.00,10.28:0.00,1.57:0.00,0.88:0.00,0.99:0.00,0.61:60,60:10.3,27.6:0,0:0,0:23,34:128,117:19,20:-,NM_004490.2(GRB14) c.1104+93T>C:-,0.71:-,NOT_FOUND 2 165358846 . C . . NT END=165364964;NT GT ./. 2 165365061 . C . . NT END=165365251;NT GT ./. 2 165365363 . C . . NT END=165378489;NT GT ./. 2 165378628 . C . . NT END=165381513;NT GT ./. 2 165381589 . C . . NT END=165383523;NT GT ./. 2 165383646 . C . . NT END=165404169;NT GT ./. 2 165383686 rs58274186 AATATAT A 9 sb;idl,rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=GRB14/NM_001303422.1/0;CC=c.221-47_221-42delATATAT;VC=Intron;Gene=GRB14/NM_004490.2/1;CC=c.482-47_482-42delATATAT;VC=Intron;DM=GRB14/RA;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:AATATAT,C,A:9:8:0:9:4,1,4:128,10,262:0.00,0.33,9.24:0.00,-0.08,0.50:0.00,0.41,8.74:0.00,0.00,0.77:0.00,0.00,0.90:0.00,0.00,0.94:60,60,60:4.2,130.0,67.0:0,0,5:0,0,0:127,100,75:23,34,65:18,0,10:-,NM_004490.2(GRB14) c.482-47_482-42delATATAT:-,NOT_FOUND:-,NOT_FOUND 2 165404327 . C . . NT END=165424824;NT GT ./. 2 165424837 rs17437781 A G 134 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.7276,G/0.2724;PC=1.000;Gene=GRB14/NM_001303422.1/0;CC=c.51T>C;ProtCh=p.I17=;VC=Silent;Gene=GRB14/NM_004490.2/1;CC=c.325-20511T>C;VC=Intron;DM=GRB14/RA;DM=GRB14/RA;DM=GRB14/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:76:0:0:48,43:1568,1413:0.00,134.47:0.00,89.77:0.00,44.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,38.0:0,0:0,0:53,48:94,97:19,28:-,NM_004490.2(GRB14) c.325-20511T>C:-,0.3:-,NOT_FOUND 2 165424995 . A . . NT END=165476196;NT GT ./. 2 165476253 rs61748245 A T 65 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.5569,C/.,T/0.4431;PC=0.975;Gene=GRB14/NM_004490.2/1;CC=c.268T>A;ProtCh=p.F90I;VC=Missense;DM=GRB14/RA;DM=GRB14/RA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:37:24:0:0:16,21:532,663:0.00,65.30:0.00,23.02:0.00,42.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,37.4:0,0:0,0:57,69:93,73:32,29:-,NM_004490.2(GRB14) c.268T>A (p.Phe90Ile):-,0.5:-,0.523835 2 165476330 . C . . NT END=165477628;NT GT ./. 2 165477820 . T . . NT END=165542455;NT GT ./. 2 165477903 rs62173895 G C 86 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.5575,C/0.4425;Gene=GRB14/NM_004490.2/1;CC=c.-84C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:59:11:0:0:28,31:900,1039:85.64,0.00:6.15,0.00:79.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,3.5:0,0:0,0:108,122:42,26:21,20:NM_004490.2(GRB14) c.-84C>G,-:0.49,-:NOT_FOUND,- 2 165542543 . C . . NT END=165548730;NT GT ./. 2 165548908 . C . . NT END=165550778;NT GT ./. 2 165552347 . C . . NT END=165555914;NT GT ./. 2 165556010 . C . . NT END=165557031;NT GT ./. 2 165557267 . C . . NT END=165559613;NT GT ./. 2 165559731 . C . . NT END=165560953;NT GT ./. 2 165561029 . C . . NT END=165561461;NT GT ./. 2 165561616 . C . . NT END=165574714;NT GT ./. 2 165574802 . T . . NT END=165578584;NT GT ./. 2 165578822 . C . . NT END=165578934;NT GT ./. 2 165579033 . C . . NT END=165583615;NT GT ./. 2 165583655 . C . . NT END=165584478;NT GT ./. 2 165584708 . C . . NT END=165586423;NT GT ./. 2 165586626 . C . . NT END=165600196;NT GT ./. 2 165600386 . C . . NT END=165630216;NT GT ./. 2 165630320 . A . . NT END=165697665;NT GT ./. 2 165697929 . T . . NT END=165698466;NT GT ./. 2 165698555 . T . . NT END=165754946;NT GT ./. 2 165698715 rs71028447 A AG 55 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=1.000;Gene=LOC101929633/NR_110574.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,AG:18:0:16:0:2,16:67,502:0.00,55.10:0.00,0.00:0.00,55.10:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.0,10.8:0,0:0,0:146,94:3,56:1,17:-,NM_014900.3(COBLL1) c.-222-u788_-222-u787insC:-,NOT_FOUND:-,NOT_FOUND 2 165755241 . C . . NT END=165765149;NT GT ./. 2 165765282 . C . . NT END=165768145;NT GT ./. 2 165768259 . C . . NT END=165771621;NT GT ./. 2 165771389 rs7600367 A G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9193,G/0.08067;Gene=SLC38A11/NM_001199148.1/1;CC=c.682+233T>C;VC=Intron;Gene=SLC38A11/NM_173512.2/0;CC=c.616+233T>C;VC=Intron;DM=SLC38A11/Aa_trans;DM=SLC38A11/Aa_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G:5:5:0:0:2,3:57,99:0.00,9.87:0.00,9.87:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:57.0,37.0:0,0:0,0:121,67:29,81:21,38:-,NM_001199148.1(SLC38A11) c.682+233T>C:-,0.07:-,NOT_FOUND 2 165771784 . C . . NT END=165772412;NT GT ./. 2 165772020 rs717339 A C 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5351,C/0.4649;Gene=SLC38A11/NM_001199148.1/1;CC=c.521-237T>G;VC=Intron;Gene=SLC38A11/NM_173512.2/0;CC=c.455-237T>G;VC=Intron;DM=SLC38A11/Aa_trans;DM=SLC38A11/Aa_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:239:27.24:0.00:27.24:1.00:0.00:1.00:60:46.4:0:0:121:30:23:NM_001199148.1(SLC38A11) c.521-237T>G,NM_001199148.1(SLC38A11) c.521-237T>G:0.44,0.44:NOT_FOUND,NOT_FOUND 2 165772484 . C . . NT END=165793859;NT GT ./. 2 165793940 . C . . NT END=165795959;NT GT ./. 2 165793968 rs17353624 G A 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9419,A/0.05811;PC=0.014;Gene=SLC38A11/NM_001199148.1/1;CC=c.370-29C>T;VC=Intron;Gene=SLC38A11/NM_173512.2/0;CC=c.304-29C>T;VC=Intron;DM=SLC38A11/Aa_trans;DM=SLC38A11/Aa_trans;DM=SLC38A11/Aa_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:9:0:0:9,11:313,351:29.62,0.00:10.29,0.00:19.32,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:37.0,4.1:0,0:0,0:116,110:34,40:22,22:NM_001199148.1(SLC38A11) c.370-29C>T,-:0.04,-:0.071659,- 2 165796067 . C . . NT END=165801078;NT GT ./. 2 165801145 . C . . NT END=165802102;NT GT ./. 2 165802238 . C . . NT END=165809216;NT GT ./. 2 165809138 rs10544528 ATG A,ATGTG 21 idl,nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=932;DM=SLC38A11/Aa_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:82:ATG,ATGTG,A:14:15:4:9:2,4,8:61,136,233:0.00,12.94,20.84:0.00,13.01,19.25:0.00,-0.07,1.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.82:60,60,60:0.0,3.5,9.2:0,0,1:0,0,0:85,36,20:32,114,121:60,15,14:NM_001199148.1(SLC38A11) c.61+77_61+78delCA,NM_001199148.1(SLC38A11) c.61+77_61+78dupCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 165809292 . C . . NT END=165811140;NT GT ./. 2 165811256 . C . . NT END=165811718;NT GT ./. 2 165811554 rs57100119 GAA G 16 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=SLC38A11/NM_001199148.1/1;CC=c.-15+163_-15+164delTT;VC=Intron;Gene=SLC38A11/NM_173512.2/0;CC=c.-15+163_-15+164delTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:GAA,I,G:11:11:2:6:4,2,5:94,57,200:0.00,4.79,16.16:0.00,4.87,16.39:0.00,-0.08,-0.23:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.61:60,60,60:18.2,60.0,2.2:0,0,1:0,0,0:116,78,46:29,73,104:7,15,26:-,NM_001199148.1(SLC38A11) c.-15+163_-15+164delTT:-,NOT_FOUND:-,NOT_FOUND 2 165811758 . G . . NT END=165946659;NT GT ./. 2 165827250 rs59058025 A AGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=20;NP=4;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,AGT,D:4:4:2:1:1,2,1:34,66,31:0.00,6.65,2.85:0.00,4.86,1.36:0.00,1.79,1.49:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.79,0.00:60,60,60:0.0,11.5,42.0:0,0,0:0,0,0:117,44,67:34,107,73:0,36,0:-,chr2 g.165827250_165827251insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 165947856 . C . . NT END=165948763;NT GT ./. 2 165949035 . C . . NT END=165950883;NT GT ./. 2 165950989 . G . . NT END=165952020;NT GT ./. 2 165952159 . C . . NT END=165952976;NT GT ./. 2 165953031 . C . . NT END=165953761;NT GT ./. 2 165954035 . C . . NT END=165956811;NT GT ./. 2 165956935 . C . . NT END=165969394;NT GT ./. 2 165967994 rs60837816 TACAC T 10 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TACAC/0.2688,T/0.7312;DB;DBA=NA;PAF=TACAC/0.2688,T/0.7312;NP=7;PC=0.001;Gene=SCN3A/NM_001081676.1/0;CC=c.3696+1397_3696+1400delGTGT;VC=Intron;Gene=SCN3A/NM_001081677.1/0;CC=c.3696+1397_3696+1400delGTGT;VC=Intron;Gene=SCN3A/NM_006922.3/1;CC=c.3843+1397_3843+1400delGTGT;VC=Intron;DM=SCN3A/Ion_trans;DM=SCN3A/Ion_trans;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TACAC,T:5:5:0:5:2,3:67,166:0.00,9.94:0.00,3.34:0.00,6.60:0.00,0.69:0.00,0.93:0.00,0.93:60,60:0.0,58.0:0,2:0,0:105,31:39,119:9,19:-,NM_006922.3(SCN3A) c.3843+1397_3843+1400delGTGT:-,NOT_FOUND:-,NOT_FOUND 2 165969569 . C . . NT END=165970325;NT GT ./. 2 165970481 . C . . NT END=165971964;NT GT ./. 2 165972086 . C . . NT END=165984140;NT GT ./. 2 165984612 . C . . NT END=165986449;NT GT ./. 2 165986807 . C . . NT END=165987753;NT GT ./. 2 165987928 . C . . NT END=165994388;NT GT ./. 2 165994628 . C . . NT END=165995985;NT GT ./. 2 165996119 . C . . NT END=165997160;NT GT ./. 2 165997509 . C . . NT END=166003248;NT GT ./. 2 166003540 . C . . NT END=166010961;NT GT ./. 2 166011169 . C . . NT END=166012271;NT GT ./. 2 166012414 . C . . NT END=166018817;NT GT ./. 2 166012751 rs150957737 T C 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9714,C/0.02855;PC=0.001;Gene=SCN3A/NM_001081676.1/0;CC=c.1032-338A>G;VC=Intron;Gene=SCN3A/NM_001081677.1/0;CC=c.1032-338A>G;VC=Intron;Gene=SCN3A/NM_006922.3/1;CC=c.1032-338A>G;VC=Intron;DM=SCN3A/Ion_trans;DM=SCN3A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:41.5:0:0:92:59:27:NM_006922.3(SCN3A) c.1032-338A>G,NM_006922.3(SCN3A) c.1032-338A>G:0.03,0.03:NOT_FOUND,NOT_FOUND 2 166018882 . C . . NT END=166019065;NT GT ./. 2 166019339 . C . . NT END=166020127;NT GT ./. 2 166020220 . C . . NT END=166020311;NT GT ./. 2 166020404 . C . . NT END=166020901;NT GT ./. 2 166021031 . C . . NT END=166025245;NT GT ./. 2 166025336 . G . . NT END=166026939;NT GT ./. 2 166027059 . C . . NT END=166032640;NT GT ./. 2 166032905 . C . . NT END=166096124;NT GT ./. 2 166096151 . G . . NT END=166147276;NT GT ./. 2 166097169 rs59403832 C CTGTGTGTGTG 12 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=69;Gene=SCN2A/NM_001040142.1/1;CC=c.-52+1055_-52+1056insTGTGTGTGTG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,CTGTGTGTGTG:8:7:5:0:4,4:110,163:0.00,12.49:0.00,4.63:0.00,7.86:0.00,0.85:0.00,0.97:0.00,0.97:60,60:30.5,28.8:1,1:0,0:93,44:37,107:9,18:-,NM_001040142.1(SCN2A) c.-52+1019_-52+1020insTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 166106999 rs58049875 TCA T 22 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=172;Gene=SCN2A/NM_001040142.1/1;CC=c.-52+10880_-52+10881delCA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:6:6:190:21.86:16.60:5.26:1.00:1.00:1.00:60:1.3:0:0:54:84:15:NM_001040142.1(SCN2A) c.-52+10850_-52+10851delCA,NM_001040142.1(SCN2A) c.-52+10850_-52+10851delCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 166147296 . G . . NT END=166150340;NT GT ./. 2 166147549 rs13015309 T C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SCN2A/NM_001040142.1/1;CC=c.-51-4734T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:7:0:0:0:3,4:98,122:9.16,0.00:0.00,0.00:9.16,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:32.7,59.0:0,3:0,0:144,102:7,47:6,9:NM_001040142.1(SCN2A) c.-51-4734T>C,-:0.34,-:NOT_FOUND,- 2 166150520 . T TAA 23 idl,rn VT=INS;SST=Single;DP=39;PC=0.996;Gene=SCN2A/NM_001040142.1/1;CC=c.-51-1735_-51-1734insAA;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.-149_-148insAA;VC=5UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TAA,D:35:29:12:4:2,23,8,2:44,674,397,32:2.43,0.00,22.53,1.28:0.02,0.00,20.19,-0.05:2.42,0.00,2.34,1.33:0.00,0.00,0.97,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.87,0.00:60,60,60,60:102.5,18.0,33.2,106.0:2,0,4,0:0,0,0,0:80,122,86,55:62,27,50,95:26,23,19,51:-,NM_001040142.1(SCN2A) c.-51-1763_-51-1762insAA:-,NOT_FOUND:-,NOT_FOUND 2 166150646 . G . . NT END=166152282;NT GT ./. 2 166152111 rs353126 T C 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.02077,C/0.9792;PC=0.009;Gene=SCN2A/NM_001040142.1/1;CC=c.-51-172T>C;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.-51-172T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:520:60.01:60.01:0.00:1.00:1.00:0.00:60:65.2:0:0:58:93:24:NM_001040142.1(SCN2A) c.-51-172T>C,NM_001040142.1(SCN2A) c.-51-172T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 166152185 rs2075704 A G 91 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.2364,G/0.7636;Gene=SCN2A/NM_001040142.1/1;CC=c.-51-98A>G;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.-51-98A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A,G,T:29:29:0:0:1,27,1:9,803,10:0.00,91.32,0.26:0.00,84.08,0.26:0.00,7.24,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:104.0,50.8,152.0:0,0,0:0,0,0:47,43,108:78,107,43:0,28,0:NM_001040142.1(SCN2A) c.-51-98A>G,NM_001040142.1(SCN2A) c.-51-98A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 2 166152601 . G . . NT END=166153526;NT GT ./. 2 166153499 rs7593568 A G 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.2278,G/0.7722;Gene=SCN2A/NM_001040142.1/1;CC=c.268-28A>G;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.268-28A>G;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.268-28A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:17:0:0:21:695:79.49:49.91:29.58:1.00:1.00:1.00:60:35.7:0:0:46:102:17:NM_001040142.1(SCN2A) c.268-28A>G,NM_001040142.1(SCN2A) c.268-28A>G:0.77,0.77:0.834802,0.834802 2 166153646 . A . . NT END=166164357;NT GT ./. 2 166163014 rs372772022 TTGTGTGTGTGTGTGTG T 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.577;Gene=SCN2A/NM_001040142.1/1;CC=c.387-1310_387-1295delGTGTGTGTGTGTGTGT;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.387-1310_387-1295delGTGTGTGTGTGTGTGT;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.387-1310_387-1295delGTGTGTGTGTGTGTGT;VC=Intron;DM=SCN2A/Ion_trans;DM=SCN2A/Ion_trans;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:4:3:116:9.35:4.02:5.33:0.85:0.99:0.95:70:0.0:1:0:35:114:27:NM_001040142.1(SCN2A) c.387-1343_387-1328delTGTGTGTGTGTGTGTG,NM_001040142.1(SCN2A) c.387-1343_387-1328delTGTGTGTGTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 166164448 . G . . NT END=166165175;NT GT ./. 2 166164887 rs1965757 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2572,A/0.7428;Gene=SCN2A/NM_001040142.1/1;CC=c.477-289G>A;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.477-289G>A;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.477-289G>A;VC=Intron;DM=SCN2A/Ion_trans;DM=SCN2A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:48.8:0:0:36:113:13:NM_001040142.1(SCN2A) c.477-289G>A,NM_001040142.1(SCN2A) c.477-289G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 166165305 . G . . NT END=166165674;NT GT ./. 2 166165767 . G . . NT END=166165861;NT GT ./. 2 166165954 . G . . NT END=166166832;NT GT ./. 2 166167106 . G . . NT END=166168534;NT GT ./. 2 166168599 . G . . NT END=166170129;NT GT ./. 2 166170127 rs2121371 T C 216 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=in-clinvar;PAF=T/0.2276,C/0.7724;PC=0.985;Gene=SCN2A/NM_001040142.1/1;CC=c.1035-3T>C;VC=Intergenic;Gene=SCN2A/NM_021007.2/0;CC=c.1035-3T>C;VC=Intergenic;Gene=SCN2A/NM_001040143.1/0;CC=c.1035-3T>C;VC=Intergenic;DM=SCN2A/Ion_trans;DM=SCN2A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:C,T:57:50:0:0:56,1:1908,9:215.85,0.00:158.63,0.00:57.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,24.0:0,0:0,0:61,62:90,89:26,0:NM_001040142.1(SCN2A) c.1035-3T>C,NM_001040142.1(SCN2A) c.1035-3T>C:0.77,0.77:0.828694,0.828694 2 166170272 . G . . NT END=166170411;NT GT ./. 2 166170619 . G . . NT END=166171980;NT GT ./. 2 166172269 . G . . NT END=166179665;NT GT ./. 2 166172317 rs1838846 A G 230 nt VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.228,G/0.772;Gene=SCN2A/NM_001040142.1/1;CC=c.1671+49A>G;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.1671+49A>G;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.1671+49A>G;VC=Intron;DM=SCN2A/Na_trans_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A,G:61:17:0:0:1,60:12,2036:0.00,230.35:0.00,46.43:0.00,183.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:60.0,43.5:0,0:0,0:127,87:21,62:0,30:NM_001040142.1(SCN2A) c.1671+49A>G,NM_001040142.1(SCN2A) c.1671+49A>G:0.77,0.77:0.840595,0.840595 2 166179650 rs1867864 C T 178 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.4972,T/0.5028;Gene=SCN2A/NM_001040142.1/1;CC=c.1672-16C>T;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.1672-16C>T;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.1672-16C>T;VC=Intron;DM=SCN2A/Na_trans_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C,T:53:48:0:0:1,52:34,1559:0.00,178.27:0.00,142.67:0.00,35.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.0,46.4:0,0:0,0:56,57:93,93:0,40:NM_001040142.1(SCN2A) c.1672-16C>T,NM_001040142.1(SCN2A) c.1672-16C>T:0.49,0.49:0.596249,0.596249 2 166180011 . G . . NT END=166183361;NT GT ./. 2 166183214 rs12993173 G T 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.497,T/0.503;PC=0.009;Gene=SCN2A/NM_001040142.1/1;CC=c.2017-148G>T;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.2017-148G>T;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.2017-148G>T;VC=Intron;DM=SCN2A/Na_trans_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:427:48.90:48.90:0.00:1.00:1.00:0.00:60:34.5:0:0:38:112:26:NM_001040142.1(SCN2A) c.2017-148G>T,NM_001040142.1(SCN2A) c.2017-148G>T:0.49,0.49:NOT_FOUND,NOT_FOUND 2 166183495 . G . . NT END=166184971;NT GT ./. 2 166183577 rs17184707 C T 107 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.9054,T/0.09465;Gene=SCN2A/NM_001040142.1/1;CC=c.2149+83C>T;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.2149+83C>T;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.2149+83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:6:0:0:28:935:106.85:13.07:93.78:1.00:1.00:1.00:60:34.9:0:0:102:43:29:NM_001040142.1(SCN2A) c.2149+83C>T,NM_001040142.1(SCN2A) c.2149+83C>T:0.11,0.11:NOT_FOUND,NOT_FOUND 2 166183665 rs66861006 AT A 38 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=100;PC=0.090;Gene=SCN2A/NM_001040142.1/1;CC=c.2149+183delT;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.2149+183delT;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.2149+183delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AT,A:13:0:0:12:2,11:52,385:0.00,38.16:0.00,0.00:0.00,38.16:0.00,1.00:0.00,0.00:0.00,1.00:60,60:24.0,21.8:0,1:0,0:73,97:77,54:73,23:-,NM_001040142.1(SCN2A) c.2149+172delT:-,NOT_FOUND:-,NOT_FOUND 2 166185049 . G . . NT END=166187839;NT GT ./. 2 166187635 rs2304017 T G 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8612,G/0.1388;Gene=SCN2A/NM_001040142.1/1;CC=c.2150-205T>G;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.2150-205T>G;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.2150-205T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:176:19.98:19.98:0.00:1.00:1.00:0.00:60:35.2:0:0:40:110:21:NM_001040142.1(SCN2A) c.2150-205T>G,NM_001040142.1(SCN2A) c.2150-205T>G:0.14,0.14:NOT_FOUND,NOT_FOUND 2 166188079 . G . . NT END=166198805;NT GT ./. 2 166198980 . G . . NT END=166201064;NT GT ./. 2 166201422 . G . . NT END=166210701;NT GT ./. 2 166211182 . G . . NT END=166221652;NT GT ./. 2 166211415 rs10191771 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2672,T/0.7328;Gene=SCN2A/NM_001040142.1/1;CC=c.3399+234C>T;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3399+234C>T;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3399+234C>T;VC=Intron;DM=SCN2A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:212:24.54:0.00:24.54:1.00:0.00:1.00:60:49.6:0:0:110:40:16:NM_001040142.1(SCN2A) c.3399+234C>T,NM_001040142.1(SCN2A) c.3399+234C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 2 166221774 . G . . NT END=166223726;NT GT ./. 2 166221883 rs67174953 GTATC G 47 sb,rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=807;PC=0.001;Gene=SCN2A/NM_001040142.1/1;CC=c.3520+133_3520+136delTCTA;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3520+133_3520+136delTCTA;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3520+133_3520+136delTCTA;VC=Intron;DM=SCN2A/Na_trans_assoc;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:GTATC,G:23:4:0:17:7,16:207,487:0.00,47.15:0.00,0.92:0.00,46.24:0.00,1.00:0.00,0.99:0.00,1.00:60,60:20.0,11.4:0,1:0,0:133,97:16,54:6,16:-,NM_001040142.1(SCN2A) c.3520+111_3520+114delTATC:-,NOT_FOUND:-,NOT_FOUND 2 166221949 rs3835935 G GT 38 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.2736,GT/0.4221,GTT/0.2983,GTTT/0.00599;DB;DBA=NA;PAF=G/0.2736,GT/0.4221,GTT/0.2983;NP=128;NP=46;Gene=SCN2A/NM_001040142.1/1;CC=c.3520+185dupT;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3520+185dupT;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3520+185dupT;VC=Intron;DM=SCN2A/Na_trans_assoc;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,GT:13:0:13:0:1,12:35,373:0.00,38.16:0.00,0.00:0.00,38.16:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,16.1:0,1:0,0:23,78:127,52:0,26:-,NM_001040142.1(SCN2A) c.3520+176_3520+177insT:-,NOT_FOUND:-,NOT_FOUND 2 166223882 . G . . NT END=166226635;NT GT ./. 2 166224047 rs2304010 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5673,A/0.4327;PC=0.001;Gene=SCN2A/NM_001040142.1/1;CC=c.3675+166G>A;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3675+166G>A;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3675+166G>A;VC=Intron;DM=SCN2A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:381:43.82:0.00:43.82:1.00:0.00:1.00:60:53.2:0:0:100:51:23:NM_001040142.1(SCN2A) c.3675+166G>A,NM_001040142.1(SCN2A) c.3675+166G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 2 166224105 rs3816000 A C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8612,C/0.1388;Gene=SCN2A/NM_001040142.1/1;CC=c.3675+224A>C;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3675+224A>C;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3675+224A>C;VC=Intron;DM=SCN2A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:178:20.62:0.00:20.62:1.00:0.00:1.00:60:73.7:0:0:84:67:15:NM_001040142.1(SCN2A) c.3675+224A>C,NM_001040142.1(SCN2A) c.3675+224A>C:0.14,0.14:NOT_FOUND,NOT_FOUND 2 166226810 . G . . NT END=166229734;NT GT ./. 2 166226978 rs2304012 A G 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6054,G/0.3946;PC=0.001;Gene=SCN2A/NM_001040142.1/1;CC=c.3849+169A>G;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3849+169A>G;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3849+169A>G;VC=Intron;DM=SCN2A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:C,G:12:0:0:0:1,11:10,329:0.50,37.72:0.00,0.00:0.50,37.72:0.00,1.00:0.00,0.00:0.00,1.00:60,60:40.0,43.3:0,0:0,0:84,106:67,44:0,27:NM_001040142.1(SCN2A) c.3849+169A>G,NM_001040142.1(SCN2A) c.3849+169A>G:0.4,0.4:NOT_FOUND,NOT_FOUND 2 166229858 . G . . NT END=166231194;NT GT ./. 2 166229922 rs6432821 T C 106 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.01338,C/0.9866;Gene=SCN2A/NM_001040142.1/1;CC=c.3972+65T>C;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3972+65T>C;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3972+65T>C;VC=Intron;DM=SCN2A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:C:31:7:0:0:31:917:106.15:19.18:86.96:1.00:1.00:1.00:60:60.3:0:0:95:56:27:NM_001040142.1(SCN2A) c.3972+65T>C,NM_001040142.1(SCN2A) c.3972+65T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 166229930 rs2304014 T A 99 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8305,A/0.1695;Gene=SCN2A/NM_001040142.1/1;CC=c.3972+73T>A;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.3972+73T>A;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.3972+73T>A;VC=Intron;DM=SCN2A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:7:0:0:28:854:98.70:18.43:80.27:1.00:1.00:1.00:60:64.9:0:0:102:48:24:NM_001040142.1(SCN2A) c.3972+73T>A,NM_001040142.1(SCN2A) c.3972+73T>A:0.16,0.16:NOT_FOUND,NOT_FOUND 2 166231477 . G . . NT END=166234106;NT GT ./. 2 166234161 . G . . NT END=166237101;NT GT ./. 2 166236870 rs67443324 TG T 23 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TG/0.6182,T/0.3818;NP=147;Gene=SCN2A/NM_001040142.1/1;CC=c.4309-231delG;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.4309-231delG;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.4309-231delG;VC=Intron;DM=SCN2A/Ion_trans;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:6:6:198:22.66:22.66:0.00:1.00:1.00:0.00:60:1.8:0:0:105:45:27:NM_001040142.1(SCN2A) c.4309-231delG,NM_001040142.1(SCN2A) c.4309-231delG:0.39,0.39:NOT_FOUND,NOT_FOUND 2 166237240 . A . . NT END=166237602;NT GT ./. 2 166237497 rs7578237 T C 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.279,C/0.721;Gene=SCN2A/NM_001040142.1/1;CC=c.4447-106T>C;VC=Intron;Gene=SCN2A/NM_021007.2/0;CC=c.4447-106T>C;VC=Intron;Gene=SCN2A/NM_001040143.1/0;CC=c.4447-106T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:17:0:0:22:717:82.19:63.60:18.58:1.00:1.00:1.00:60:33.4:0:0:43:107:30:NM_001040142.1(SCN2A) c.4447-106T>C,NM_001040142.1(SCN2A) c.4447-106T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 166237708 . G . . NT END=166243255;NT GT ./. 2 166243527 . G . . NT END=166245138;NT GT ./. 2 166246335 . A . . NT END=166430868;NT GT ./. 2 166430942 . G . . NT END=166451552;NT GT ./. 2 166451724 . G . . NT END=166514270;NT GT ./. 2 166514165 rs12620509 C G 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.5513,G/0.4487;PC=0.004;Gene=CSRNP3/NM_001172173.1/1;CC=c.149-106C>G;VC=Intron;Gene=CSRNP3/NM_024969.3/0;CC=c.149-106C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:41:40:0:0:1,22,18:10,744,599:-0.02,0.00,56.51:0.02,0.00,51.96:-0.04,0.00,4.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:86.0,4.6,45.2:0,0,0:0,0,0:43,53,68:108,94,82:0,35,39:-,NM_001172173.1(CSRNP3) c.149-106C>G:-,0.43:-,NOT_FOUND 2 166514531 . G . . NT END=166532821;NT GT ./. 2 166514594 rs10803800 A G 109 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.3297,G/0.6703;Gene=CSRNP3/NM_001172173.1/1;CC=c.408+64A>G;VC=Intron;Gene=CSRNP3/NM_024969.3/0;CC=c.408+64A>G;VC=Intron;DM=CSRNP3/CSRNP_N;DM=CSRNP3/CSRNP_N;DM=CSRNP3/CSRNP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:69:20:0:0:34,1,34:1023,11,1127:0.00,-0.04,108.52:0.00,-0.04,21.87:0.00,0.00,86.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.1,109.0,38.2:0,0,0:0,0,0:109,35,95:39,115,55:21,0,28:-,NM_001172173.1(CSRNP3) c.408+64A>G:-,0.67:-,NOT_FOUND 2 166533119 . G . . NT END=166535210;NT GT ./. 2 166535918 rs777346 C T 132 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.6308,T/0.3692;PC=1.000;Gene=CSRNP3/NM_001172173.1/1;CC=c.1413C>T;ProtCh=p.T471=;VC=Silent;Gene=CSRNP3/NM_024969.3/0;CC=c.1413C>T;ProtCh=p.T471=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:94:62:0:0:48,1,45:1507,19,1384:0.00,0.32,131.83:0.00,0.42,65.58:0.00,-0.10,66.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.3,148.0,42.4:0,0,0:0,0,0:67,47,57:83,104,91:36,0,34:-,NM_001172173.1(CSRNP3) c.1413C>T (p.(=)):-,0.41:-,0.4491 2 166536264 . T . . NT END=166605290;NT GT ./. 2 166605366 rs142136047 A G 77 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.9954,G/0.004593;NP=69;PC=1.000;Gene=GALNT3/NM_004482.3/1;CC=c.1827T>C;ProtCh=p.N609=;VC=Silent;DM=GALNT3/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:27:0:0:16,24:503,776:0.00,77.38:0.00,34.52:0.00,42.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,37.2:0,0:0,0:74,81:72,68:42,46:-,NM_004482.3(GALNT3) c.1827T>C (p.(=)):-,0.01:-,0.008305 2 166605414 . C . . NT END=166606251;NT GT ./. 2 166606405 . C . . NT END=166611136;NT GT ./. 2 166606619 rs6432845 G A 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.02296,A/0.977;Gene=GALNT3/NM_004482.3/1;CC=c.1627-215C>T;VC=Intron;DM=GALNT3/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:259:30.59:0.00:30.59:1.00:0.00:1.00:60:56.2:0:0:97:54:25:NM_004482.3(GALNT3) c.1627-215C>T,NM_004482.3(GALNT3) c.1627-215C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 166611006 rs62174818 C T 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.6787,T/0.3213;Gene=GALNT3/NM_004482.3/1;CC=c.1626+131G>A;VC=Intron;DM=GALNT3/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:10,12:335,391:0.00,38.24:0.00,38.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.0,68.7:0,0:0,0:35,22:115,128:16,8:-,NM_004482.3(GALNT3) c.1626+131G>A:-,0.36:-,NOT_FOUND 2 166611086 rs41268661 C T 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.6789,T/0.3211;Gene=GALNT3/NM_004482.3/1;CC=c.1626+51G>A;VC=Intron;DM=GALNT3/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:30:0:0:15,17:492,554:0.00,53.91:0.00,50.45:0.00,3.46:0.00,1.00:0.00,1.00:0.00,0.99:60,60:12.1,53.4:0,0:0,0:55,83:96,68:44,24:-,NM_004482.3(GALNT3) c.1626+51G>A:-,0.36:-,0.391726 2 166611239 . C . . NT END=166611441;NT GT ./. 2 166611574 . C . . NT END=166613556;NT GT ./. 2 166611774 rs6705649 C G 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.02336,G/0.9766;Gene=GALNT3/NM_004482.3/1;CC=c.1393-201G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:246:28.41:0.00:28.41:1.00:0.00:1.00:60:51.6:0:0:114:35:22:NM_004482.3(GALNT3) c.1393-201G>C,NM_004482.3(GALNT3) c.1393-201G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 166613758 . C . . NT END=166615256;NT GT ./. 2 166615375 . C . . NT END=166615845;NT GT ./. 2 166616081 . C . . NT END=166618414;NT GT ./. 2 166618262 rs1968294 C T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.601,T/0.399;Gene=GALNT3/NM_004482.3/1;CC=c.838+153G>A;VC=Intron;DM=GALNT3/Glycos_transf_2;DM=GALNT3/Glycos_transf_2;DM=GALNT3/Ricin_B_lectin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,T:15:15:0:0:10,5:330,158:0.00,14.04:0.00,14.04:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:9.8,31.6:0,0:0,0:45,83:104,68:22,41:-,NM_004482.3(GALNT3) c.838+153G>A:-,0.42:-,NOT_FOUND 2 166618565 . C . . NT END=166621393;NT GT ./. 2 166621236 rs6721582 G A 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6819,A/0.3181;Gene=GALNT3/NM_004482.3/1;CC=c.688+158C>T;VC=Intron;DM=GALNT3/Glycos_transf_2;DM=GALNT3/Glycos_transf_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:11:11:0:0:8,3:260,94:27.02,0.00:27.02,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.1,13.3:0,0:0,0:38,92:110,58:11,8:NM_004482.3(GALNT3) c.688+158C>T,-:0.31,-:NOT_FOUND,- 2 166621354 rs2113840 T C 103 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.004193,C/0.9958;NP=3477;Gene=GALNT3/NM_004482.3/1;CC=c.688+40A>G;VC=Intron;DM=GALNT3/Glycos_transf_2;DM=GALNT3/Glycos_transf_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C,T:29:26:0:0:28,1:918,33:103.22,0.00:74.91,0.00:28.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,0.0:0,0:0,0:65,8:83,143:34,0:NM_004482.3(GALNT3) c.688+40A>G,NM_004482.3(GALNT3) c.688+40A>G:1,1:0.995156,0.995156 2 166621567 . C . . NT END=166626695;NT GT ./. 2 166626606 rs4667836 G A 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.6595,A/0.3405;PC=0.003;Gene=GALNT3/NM_004482.3/1;CC=c.515+90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:31:0:0:16,15:495,499:47.79,0.00:47.95,0.00:-0.16,0.00:1.00,0.00:1.00,0.00:0.68,0.00:60,60:41.5,7.5:0,0:0,0:40,81:111,69:27,23:NM_004482.3(GALNT3) c.515+90C>T,-:0.33,-:NOT_FOUND,- 2 166627211 . T . . NT END=166731264;NT GT ./. 2 166731343 . C . . NT END=166732674;NT GT ./. 2 166732743 . C . . NT END=166737188;NT GT ./. 2 166737310 . C . . NT END=166740303;NT GT ./. 2 166737665 rs4667851 T G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4437,G/0.5563;Gene=TTC21B/NM_024753.4/1;CC=c.3685-356A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:G,T:4:0:0:0:2,2:67,62:6.45,0.00:0.00,0.00:6.45,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:33.5,33.0:0,0:0,0:100,73:51,77:15,15:NM_024753.4(TTC21B) c.3685-356A>C,-:0.57,-:NOT_FOUND,- 2 166740529 . C . . NT END=166744788;NT GT ./. 2 166740578 rs34701755 C T 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.893,T/0.107;Gene=TTC21B/NM_024753.4/1;CC=c.3460-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:31:9:0:0:1,15,15:10,449,489:0.05,0.00,47.02:-0.06,0.00,9.34:0.11,0.00,37.68:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:101.0,5.7,34.3:0,0,0:0,0,0:31,110,108:102,40,43:0,29,26:-,NM_024753.4(TTC21B) c.3460-50G>A:-,0.11:-,0.118747 2 166744985 . C . . NT END=166746988;NT GT ./. 2 166745214 rs1529648 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7995,C/0.2005;PC=0.001;Gene=TTC21B/NM_024753.4/1;CC=c.3264-230A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:85:10.33:0.00:10.33:1.00:0.00:1.00:60:24.0:0:0:113:35:27:NM_024753.4(TTC21B) c.3264-230A>G,NM_024753.4(TTC21B) c.3264-230A>G:0.21,0.21:NOT_FOUND,NOT_FOUND 2 166747151 . C . . NT END=166747347;NT GT ./. 2 166747499 . C . . NT END=166755195;NT GT ./. 2 166755278 . C . . NT END=166756279;NT GT ./. 2 166756391 . C . . NT END=166758231;NT GT ./. 2 166758421 . C . . NT END=166764187;NT GT ./. 2 166758447 rs111488473 TA T 16 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=112;PC=0.023;Gene=TTC21B/NM_024753.4/1;CC=c.2569-28delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,C,TA,I,T:47:13:2:8:4,1,33,2,7:37,12,929,65,240:0.54,-0.02,0.00,4.09,15.85:-0.19,-0.05,0.00,1.11,0.93:0.73,0.03,0.00,2.98,14.92:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.80:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:116.5,112.0,31.2,12.5,30.9:0,0,0,0,1:0,0,0,0,0:86,17,121,103,106:63,134,29,47,44:18,0,22,27,23:-,NM_024753.4(TTC21B) c.2569-28delT:-,NOT_FOUND:-,0.187059 2 166764295 . C . . NT END=166767836;NT GT ./. 2 166767976 . C . . NT END=166769023;NT GT ./. 2 166769135 . C . . NT END=166770083;NT GT ./. 2 166770120 rs10176588 A G 63 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=in-clinvar;PAF=A/0.7226,G/0.2774;PC=0.891;Gene=TTC21B/NM_024753.4/1;CC=c.2175T>C;ProtCh=p.F725=;VC=Silent;DM=TTC21B/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:30:0:0:21,20:666,655:0.00,62.72:0.00,37.12:0.00,25.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,40.5:0,0:0,0:65,69:86,80:30,30:-,NM_024753.4(TTC21B) c.2175T>C (p.(=)):-,0.29:-,0.347532 2 166770157 . C . . NT END=166771710;NT GT ./. 2 166771663 rs7590559 C T 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.6346,T/0.3654;Gene=TTC21B/NM_024753.4/1;CC=c.2138+48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:35:0:0:20,16:643,491:0.00,45.99:0.00,46.25:0.00,-0.25:0.00,1.00:0.00,1.00:0.00,0.63:60,60:9.2,44.9:0,0:0,0:59,53:91,97:29,29:-,NM_024753.4(TTC21B) c.2138+48G>A:-,0.37:-,0.405122 2 166771950 . C . . NT END=166773766;NT GT ./. 2 166773971 rs6750044 G A 79 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=in-clinvar;PAF=G/0.7083,A/0.2917;PC=1.000;Gene=TTC21B/NM_024753.4/1;CC=c.1695C>T;ProtCh=p.Y565=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:26:0:0:25,28:826,939:78.60,0.00:26.60,0.00:52.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,0.8:0,0:0,0:84,84:63,57:28,28:NM_024753.4(TTC21B) c.1695C>T (p.(=)),-:0.3,-:0.361273,- 2 166773992 . C . . NT END=166775785;NT GT ./. 2 166775944 . C . . NT END=166781058;NT GT ./. 2 166781189 . C . . NT END=166785644;NT GT ./. 2 166781242 rs58208220 T TA 67 nt VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.7642,TA/0.2358;DB;DBA=NA;PAF=T/0.7642,TA/0.2358;NP=774;PC=0.021;Gene=TTC21B/NM_024753.4/1;CC=c.1387-55dupT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:48:22:22:0:26,22:819,706:0.00,66.75:0.00,23.79:0.00,42.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,4.5:0,0:0,0:112,108:35,42:17,22:-,NM_024753.4(TTC21B) c.1387-55_1387-54insT:-,0.25:-,NOT_FOUND 2 166781464 rs57171027 AT A 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AT/0.7638,A/0.2362;NP=45;PC=0.026;Gene=TTC21B/NM_024753.4/1;CC=c.1387-277delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:AT,A:7:0:0:4:3,4:96,122:0.00,12.03:0.00,0.00:0.00,12.03:0.00,0.90:0.00,0.00:0.00,0.90:60,60:4.3,15.2:0,0:0,0:143,94:7,56:3,22:-,NM_024753.4(TTC21B) c.1387-277delA:-,0.25:-,NOT_FOUND 2 166785846 . C . . NT END=166786159;NT GT ./. 2 166786258 . C . . NT END=166786681;NT GT ./. 2 166786530 rs146900164 A ATTTTAT 21 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7642,ATTTTAT/0.2358;NP=186;PC=0.001;Gene=TTC21B/NM_024753.4/1;CC=c.1087+151_1087+152insATAAAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATTTTAT:17:14:7:0:10,7:305,225:0.00,20.84:0.00,21.53:0.00,-0.69:0.00,0.98:0.00,1.00:0.00,0.81:60,60:7.7,3.3:0,0:0,0:42,40:108,111:25,8:-,NM_024753.4(TTC21B) c.1087+151_1087+152insATAAAA:-,NOT_FOUND:-,NOT_FOUND 2 166786875 . C . . NT END=166788267;NT GT ./. 2 166786973 rs1560597 A C 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.05192,C/0.9481;PC=0.001;Gene=TTC21B/NM_024753.4/1;CC=c.895-99T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:2:0:0:18:564:64.91:7.75:57.16:1.00:1.00:1.00:70:54.3:0:0:97:54:26:NM_024753.4(TTC21B) c.895-99T>G,NM_024753.4(TTC21B) c.895-99T>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 166787207 rs1897425 G A 14 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.764,A/0.236;Gene=TTC21B/NM_024753.4/1;CC=c.895-333C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,G:5:5:0:0:4,1:133,29:14.12,0.00:12.58,0.00:1.54,0.00:0.96,0.00:0.96,0.00:0.97,0.00:60,60:76.2,19.0:0,0:0,0:43,5:70,98:1,0:NM_024753.4(TTC21B) c.895-333C>T,-:0.25,-:NOT_FOUND,- 2 166787242 rs71031218 GGTGTGT T,G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=GGTGTGT/0.07208,G/0.9279;DB;DBA=NA;PAF=GGTGTGT/0.07208,G/0.9279;NP=139;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:51:GGTGTGT,T,G:6:6:0:2:1,3,2:9,98,58:0.00,10.05,5.63:0.00,8.31,4.28:0.00,1.74,1.35:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.79,0.00:60,60,60:53.0,84.0,9.5:0,0,0:0,0,0:79,86,28:35,36,99:0,1,12:NM_024753.4(TTC21B) c.895-373_895-368delCACACC,NM_024753.4(TTC21B) c.895-374_895-369delACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 166788336 rs7592429 T C 162 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=41;DB;DBA=in-clinvar;PAF=T/0.05192,C/0.9481;PC=0.911;Gene=TTC21B/NM_024753.4/1;CC=c.826A>G;ProtCh=p.T276A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:C:41:27:0:0:41:1424:161.93:69.39:92.55:1.00:1.00:1.00:60:42.5:0:0:83:57:25:NM_024753.4(TTC21B) c.826A>G (p.Thr276Ala),NM_024753.4(TTC21B) c.826A>G (p.Thr276Ala):0.95,0.95:0.945717,0.945717 2 166788367 . C . . NT END=166789482;NT GT ./. 2 166789568 . C . . NT END=166797536;NT GT ./. 2 166797450 rs7592392 C A 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3327,A/0.6673;PC=0.001;Gene=TTC21B/NM_024753.4/1;CC=c.710+87G>T;VC=Intron;Gene=TTC21B-AS1/NR_038983.1/0;VC=NonCoding;Gene=TTC21B-AS1/NR_038984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:20:0:0:12,10:352,313:34.30,0.00:31.62,0.00:2.68,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:33.7,7.5:0,0:0,0:30,60:121,90:18,38:NM_024753.4(TTC21B) c.710+87G>T,-:0.67,-:NOT_FOUND,- 2 166797646 rs1432273 C T 66 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=in-clinvar;PAF=C/0.3327,T/0.6673;PC=0.110;Gene=TTC21B/NM_024753.4/1;CC=c.601G>A;ProtCh=p.V201M;VC=Missense;Gene=TTC21B-AS1/NR_038983.1/0;VC=NonCoding;Gene=TTC21B-AS1/NR_038984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:27:0:0:25,22:807,700:0.00,66.40:0.00,25.76:0.00,40.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,32.9:0,0:0,0:61,65:86,85:38,36:-,NM_024753.4(TTC21B) c.601G>A (p.Val201Met):-,0.67:-,0.60203 2 166797695 . C . . NT END=166799728;NT GT ./. 2 166799596 rs13000534 T C 91 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.05252,C/0.9475;Gene=TTC21B/NM_024753.4/1;CC=c.552+133A>G;VC=Intron;Gene=TTC21B-AS1/NR_038983.1/0;VC=NonCoding;Gene=TTC21B-AS1/NR_038984.1/0;VC=NonCoding;DM=TTC21B/TPR_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:25:0:0:25:794:91.32:91.32:0.00:1.00:1.00:0.00:60:34.6:0:0:86:65:38:NM_024753.4(TTC21B) c.552+133A>G,NM_024753.4(TTC21B) c.552+133A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 166799852 . C . . NT END=166802033;NT GT ./. 2 166799893 rs10930190 G A 120 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.003594,A/0.9964;NP=2816;Gene=TTC21B/NM_024753.4/1;CC=c.430-42C>T;VC=Intron;Gene=TTC21B-AS1/NR_038983.1/0;VC=NonCoding;Gene=TTC21B-AS1/NR_038984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:10:0:0:34:1043:120.40:26.19:94.21:1.00:1.00:1.00:60:37.4:0:0:97:51:25:NM_024753.4(TTC21B) c.430-42C>T,NM_024753.4(TTC21B) c.430-42C>T:1,1:0.995292,0.995292 2 166801882 rs12329293 T G 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.764,G/0.236;Gene=TTC21B/NM_024753.4/1;CC=c.429+152A>C;VC=Intron;Gene=TTC21B-AS1/NR_038983.1/0;VC=NonCoding;Gene=TTC21B-AS1/NR_038984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:G,T:12:12:0:0:7,5:233,161:23.10,0.00:23.10,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:53.6,27.6:0,0:0,0:65,32:86,118:33,17:NM_024753.4(TTC21B) c.429+152A>C,-:0.25,-:NOT_FOUND,- 2 166801924 rs6432853 C G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3403,G/0.6597;Gene=TTC21B/NM_024753.4/1;CC=c.429+110G>C;VC=Intron;Gene=TTC21B-AS1/NR_038983.1/0;VC=NonCoding;Gene=TTC21B-AS1/NR_038984.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:21:0:0:13,9:432,267:0.00,24.50:0.00,22.89:0.00,1.62:0.00,1.00:0.00,1.00:0.00,0.71:60,60:29.4,30.8:0,0:0,0:38,57:113,94:25,37:-,NM_024753.4(TTC21B) c.429+110G>C:-,0.67:-,NOT_FOUND 2 166802201 . C . . NT END=166805903;NT GT ./. 2 166802306 rs5836067 ACTGT A 20 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=ACTGT/0.764,A/0.236;DB;DBA=NA;PAF=ACTGT/0.764,A/0.236;NP=514;PC=0.002;Gene=TTC21B/NM_024753.4/1;CC=c.263-110_263-107delACAG;VC=Intron;Gene=TTC21B-AS1/NR_038983.1/0;VC=NonCoding;Gene=TTC21B-AS1/NR_038984.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTGT,A:20:4:0:7:13,7:379,225:0.00,20.23:0.00,1.09:0.00,19.14:0.00,0.97:0.00,0.82:0.00,1.00:60,60:8.2,0.3:0,0:0,0:107,78:43,73:37,17:-,NM_024753.4(TTC21B) c.263-110_263-107delACAG:-,0.25:-,NOT_FOUND 2 166806015 . C . . NT END=166806104;NT GT ./. 2 166806235 . C . . NT END=166810194;NT GT ./. 2 166810053 rs6716946 C T 207 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.002995,T/0.997;Gene=TTC21B/NM_024753.4/1;CC=c.21+142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:T:55:55:0:0:55:1813:207.45:198.06:9.39:1.00:1.00:1.00:60:49.4:0:0:65:86:31:NM_024753.4(TTC21B) c.21+142G>A,NM_024753.4(TTC21B) c.21+142G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 166810161 rs59477041 G GCCCGCTCA 473 nt VT=INS;SST=Single;DP=190;DB;DBA=NA;PAF=G/0.4916,GCCCGCCCGCTCA/.,GCCCGCTCA/0.5084,GCCCGCTCACCCGCTCA/.,GCCCGCTCACCCGCTCACCCGCTCA/.,GCTCA/.;DB;DBA=NA;PAF=NA;NP=16;NP=61;Gene=TTC21B/NM_024753.4/1;CC=c.21+33_21+34insTGAGCGGG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,GCCCGCTCA,D:186:148:154:1:1,33,1,150,1:28,846,11,4529,32:0.95,0.00,-0.00,473.40,1.32:-0.04,0.00,0.03,263.62,-0.04:0.98,0.00,-0.04,209.78,1.36:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,70,60:159.0,25.9,11.0,8.8,94.0:0,2,0,4,0:0,0,0,0,0:87,86,66,33,89:56,35,85,108,62:0,28,0,20,0:-,NM_024753.4(TTC21B) c.21+33_21+34insTGAGCGGG:-,NOT_FOUND:-,NOT_FOUND 2 166810216 . G . . NT END=166847754;NT GT ./. 2 166810373 rs1347041 A G 153 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=189;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:1:0:0:43:1324:152.82:1.59:151.23:1.00:1.00:1.00:60:48.6:0:0:105:45:22:NM_024753.4(TTC21B) c.-133-u25T>C,NM_024753.4(TTC21B) c.-133-u25T>C:1,1:NOT_FOUND,NOT_FOUND 2 166810433 rs5836068 GT G 56 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GT/0.002995,G/0.997;NP=21;PC=0.037;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:GT,G:19:0:0:17:2,17:61,508:0.00,56.11:0.00,0.00:0.00,56.11:0.00,1.00:0.00,0.00:0.00,1.00:60,60:57.5,54.0:0,0:0,0:150,93:1,58:0,25:-,NM_024753.4(TTC21B) c.-133-u86delA:-,0.99:-,NOT_FOUND 2 166848933 . C . . NT END=166850655;NT GT ./. 2 166849154 rs56079318 T TA 12 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7839,TA/0.1995;DB;DBA=NA;PAF=T/0.7839,TA/0.1995;DB;DBA=NA;PAF=T/0.7839,A/0.01657;PC=0.016;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.4853-223dupT;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.4769-223dupT;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.4820-223dupT;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.4853-223dupT;VC=Intron;DM=SCN1A/Ion_trans;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:T,TA:8:0:4:0:4,4:122,121:0.00,11.60:0.00,0.00:0.00,11.60:0.00,0.87:0.00,0.00:0.00,0.87:60,60:8.8,0.0:0,0:0,0:126,79:24,71:18,40:-,NM_006920.4(SCN1A) c.4820-223_4820-222insT:-,0.22:-,NOT_FOUND 2 166849724 rs73969739 A T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6735,T/0.3265;NP=224;PC=0.001;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.4853-792T>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.4769-792T>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.4820-792T>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.4853-792T>A;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:4:3:0:0:1,3:35,102:0.00,10.65:0.00,3.45:0.00,7.20:0.00,0.85:0.00,0.99:0.00,0.85:70,70:34.0,70.7:1,2:0,0:139,120:11,27:0,6:-,NM_006920.4(SCN1A) c.4820-792T>A:-,NOT_FOUND:-,NOT_FOUND 2 166850927 . C . . NT END=166852522;NT GT ./. 2 166852628 . G . . NT END=166854547;NT GT ./. 2 166854686 . C . . NT END=166856232;NT GT ./. 2 166854795 rs563306810 A AT 7 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.4339-111dupA;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.4255-111dupA;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.4306-111dupA;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.4339-111dupA;VC=Intron;DM=SCN1A/Ion_trans;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AT,D:17:2:4:1:13,3,1:358,126,34:0.00,7.38,2.30:0.00,-0.04,2.61:0.00,7.42,-0.31:0.00,0.52,0.00:0.00,0.42,0.00:0.00,0.91,0.00:60,60,60:4.5,3.3,0.0:0,1,0:0,0,0:98,38,131:53,112,19:27,14,0:-,NM_006920.4(SCN1A) c.4306-111_4306-110insA:-,NOT_FOUND:-,NOT_FOUND 2 166856287 . C . . NT END=166858981;NT GT ./. 2 166859264 . C . . NT END=166866228;NT GT ./. 2 166866352 . C . . NT END=166868618;NT GT ./. 2 166868793 . C . . NT END=166870253;NT GT ./. 2 166870409 . C . . NT END=166872116;NT GT ./. 2 166870600 rs568376 A G 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.002796,G/0.9972;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.3551-192T>C;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.3467-192T>C;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.3518-192T>C;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.3551-192T>C;VC=Intron;DM=SCN1A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:252:29.44:0.00:29.44:1.00:0.00:1.00:60:43.8:0:0:97:54:30:NM_006920.4(SCN1A) c.3518-192T>C,NM_006920.4(SCN1A) c.3518-192T>C:1,1:NOT_FOUND,NOT_FOUND 2 166871905 rs577306 C A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7869,A/0.2131;PC=0.011;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.3550+212G>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.3466+212G>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.3517+212G>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.3550+212G>T;VC=Intron;DM=SCN1A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,C:10:10:0:0:7,3:235,101:24.19,0.00:24.45,0.00:-0.26,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:45.1,0.0:0,0:0,0:72,20:79,130:42,5:NM_006920.4(SCN1A) c.3517+212G>T,-:0.22,-:NOT_FOUND,- 2 166872238 . C . . NT END=166892557;NT GT ./. 2 166892346 rs11691603 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7815,G/0.2185;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.3429+212T>C;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.3345+212T>C;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.3396+212T>C;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.3429+212T>C;VC=Intron;DM=SCN1A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,G:13:13:0:0:9,4:270,124:0.00,10.82:0.00,10.82:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,60:3.1,52.0:0,0:0,0:43,61:107,67:19,55:-,NM_006920.4(SCN1A) c.3396+212T>C:-,0.23:-,NOT_FOUND 2 166892444 rs558099932 TAAA T 17 idl,nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1094;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.3429+111_3429+113delTTT;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.3345+111_3345+113delTTT;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.3396+111_3396+113delTTT;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.3429+111_3429+113delTTT;VC=Intron;DM=SCN1A/Na_trans_assoc;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:TAAA,I,T:20:23:1:9:13,1,6:385,25,294:0.00,1.37,17.06:0.00,1.37,15.57:0.00,0.00,1.50:0.00,0.00,0.92:0.00,0.00,0.92:0.00,0.00,0.51:60,60,60:16.0,0.0,6.7:0,0,3:0,0,0:67,122,48:70,28,101:45,0,19:-,NM_006920.4(SCN1A) c.3396+111_3396+113delTTT:-,NOT_FOUND:-,NOT_FOUND 2 166892448 rs114707732 A T 17 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2851,T/0.7149;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.3429+110T>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.3345+110T>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.3396+110T>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.3429+110T>A;VC=Intron;DM=SCN1A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,T:22:21:0:1:16,6:504,200:0.00,17.27:0.00,15.89:0.00,1.38:0.00,0.93:0.00,0.99:0.00,0.72:60,60:13.0,1.5:2,6:0,0:51,45:99,104:32,15:-,NM_006920.4(SCN1A) c.3396+110T>A:-,NOT_FOUND:-,NOT_FOUND 2 166892788 rs2298771 C T 150 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=89;DB;DBA=in-clinvar;PAF=C/0.2115,T/0.7885;Gene=LOC102724058/NR_110598.1/0;VC=NonCoding;Gene=SCN1A/NM_001165963.1/0;CC=c.3199G>A;ProtCh=p.A1067T;VC=Missense;Gene=SCN1A/NM_001165964.1/0;CC=c.3115G>A;ProtCh=p.A1039T;VC=Missense;Gene=SCN1A/NM_006920.4/1;CC=c.3166G>A;ProtCh=p.A1056T;VC=Missense;Gene=SCN1A/NM_001202435.1/0;CC=c.3199G>A;ProtCh=p.A1067T;VC=Missense;DM=SCN1A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:89:47:0:0:40,1,48:1342,12,1534:0.00,-0.02,149.95:0.00,0.08,65.47:0.00,-0.11,84.48:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.0,23.0,37.1:0,0,0:0,0,0:59,73,91:82,78,56:30,0,38:-,NM_006920.4(SCN1A) c.3166G>A (p.Ala1056Thr):-,0.79:-,0.723205 2 166893041 . C . . NT END=166894285;NT GT ./. 2 166893081 rs7601520 G A 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.2113,A/0.7887;Gene=SCN1A/NM_001165963.1/0;CC=c.2947-41C>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2863-41C>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2914-41C>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2947-41C>T;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:13:0:0:16,18:499,597:47.30,0.00:7.07,0.00:40.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,8.9:0,0:0,0:89,105:61,39:42,18:NM_006920.4(SCN1A) c.2914-41C>T,-:0.79,-:0.732416,- 2 166894120 rs66463257 AGTTT A 30 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=AGTTT/0.2107,A/0.7893;NP=652;Gene=SCN1A/NM_001165963.1/0;CC=c.2946+162_2946+165delAAAC;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2862+162_2862+165delAAAC;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2913+162_2913+165delAAAC;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2946+162_2946+165delAAAC;VC=Intron;DM=SCN1A/Ion_trans;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:AGTTT,A:15:15:0:10:5,10:166,291:0.00,29.71:0.00,29.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.8,32.5:0,0:0,0:53,48:98,102:20,25:-,NM_006920.4(SCN1A) c.2913+162_2913+165delAAAC:-,0.78:-,NOT_FOUND 2 166894165 rs67819222 C CT 32 rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8019,CT/0.1981;NP=508;Gene=SCN1A/NM_001165963.1/0;CC=c.2946+120_2946+121insA;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2862+120_2862+121insA;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2913+120_2913+121insA;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2946+120_2946+121insA;VC=Intron;DM=SCN1A/Ion_trans;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT:23:23:11:0:11,1,11:323,8,333:0.00,0.01,31.92:0.00,0.01,31.92:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:20.9,105.0,33.8:0,1,0:0,0,0:27,73,71:121,77,78:27,0,38:-,NM_006920.4(SCN1A) c.2913+120_2913+121insA:-,NOT_FOUND:-,NOT_FOUND 2 166894230 rs2020318 T C 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.2107,C/0.7893;Gene=SCN1A/NM_001165963.1/0;CC=c.2946+56A>G;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2862+56A>G;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2913+56A>G;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2946+56A>G;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:52:0:0:24,29:750,892:70.58,0.00:65.11,0.00:5.47,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:56.3,9.8:0,0:0,0:37,30:110,120:23,18:NM_006920.4(SCN1A) c.2913+56A>G,-:0.78,-:NOT_FOUND,- 2 166894643 . C . . NT END=166895932;NT GT ./. 2 166894881 rs6719077 T C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2119,C/0.7881;Gene=SCN1A/NM_001165963.1/0;CC=c.2590-239A>G;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2506-239A>G;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2557-239A>G;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2590-239A>G;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T,I:8:0:1:0:4,3,1:130,94,33:12.80,0.00,2.70:0.00,0.00,0.00:12.80,0.00,2.70:0.87,0.00,0.00:0.00,0.00,0.00:0.87,0.00,0.00:60,60,60:32.5,9.7,0.0:0,0,0:0,0,0:114,143,113:35,5,38:31,6,0:NM_006920.4(SCN1A) c.2557-239A>G,-:0.74,-:NOT_FOUND,- 2 166895725 rs1019724 T C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2107,C/0.7893;Gene=SCN1A/NM_001165963.1/0;CC=c.2589+208A>G;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2505+208A>G;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2556+208A>G;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2589+208A>G;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:8:8:0:0:6,2:177,69:18.59,0.00:18.59,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.5,0.0:0,0:0,0:71,9:79,141:17,1:NM_006920.4(SCN1A) c.2556+208A>G,-:0.78,-:NOT_FOUND,- 2 166895819 rs10168027 A G 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7819,G/0.2181;Gene=SCN1A/NM_001165963.1/0;CC=c.2589+114T>C;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2505+114T>C;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2556+114T>C;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2589+114T>C;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:25:0:0:13,12:439,364:0.00,34.61:0.00,34.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.1,41.8:0,0:0,0:53,33:98,117:25,26:-,NM_006920.4(SCN1A) c.2556+114T>C:-,0.23:-,NOT_FOUND 2 166895913 rs57393001 CTT C 45 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=34;Gene=SCN1A/NM_001165963.1/0;CC=c.2589+18_2589+19delAA;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2505+18_2505+19delAA;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2556+18_2556+19delAA;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2589+18_2589+19delAA;VC=Intron;DM=SCN1A/Ion_trans;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,I,C:36:43:3:26:19,2,15:617,91,818:0.00,3.66,45.50:0.00,2.20,33.25:0.00,1.46,12.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:26.1,23.0,47.9:0,1,11:0,0,0:54,36,84:83,115,66:36,14,32:-,NM_006920.4(SCN1A) c.2556+18_2556+19delAA:-,NOT_FOUND:-,NOT_FOUND 2 166896107 . C . . NT END=166897740;NT GT ./. 2 166896143 rs2126152 T G 67 nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.2107,A/.,G/0.7893;PC=0.003;Gene=SCN1A/NM_001165963.1/0;CC=c.2416-37A>C;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2332-37A>C;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2383-37A>C;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2416-37A>C;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:49:17:0:0:1,21,27:8,715,840:-0.12,67.25,0.00:-0.05,13.15,0.00:-0.07,54.10,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:20.0,38.4,23.8:0,0,0:0,0,0:63,110,107:87,35,41:0,29,25:NM_006920.4(SCN1A) c.2383-37A>C,-:0.79,-:0.723214,- 2 166896178 rs490317 C T 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.844,T/0.156;Gene=SCN1A/NM_001165963.1/0;CC=c.2416-72G>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2332-72G>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2383-72G>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2416-72G>A;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:9:0:0:13,21:445,654:0.00,65.59:0.00,10.45:0.00,55.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.2,32.9:0,0:0,0:94,117:57,34:26,25:-,NM_006920.4(SCN1A) c.2383-72G>A:-,0.17:-,NOT_FOUND 2 166896287 rs6432859 T G 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2107,G/0.7893;Gene=SCN1A/NM_001165963.1/0;CC=c.2416-181A>C;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2332-181A>C;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2383-181A>C;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2416-181A>C;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G,T:9:0:0:0:1,4,4:12,132,129:0.56,12.68,0.00:0.00,0.00,0.00:0.56,12.68,0.00:0.00,0.85,0.00:0.00,0.00,0.00:0.00,0.85,0.00:60,60,60:161.0,58.8,22.0:0,0,0:0,0,0:36,64,128:101,85,23:0,5,19:NM_006920.4(SCN1A) c.2383-181A>C,-:0.79,-:NOT_FOUND,- 2 166896362 rs1019722 G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2107,A/0.7893;Gene=SCN1A/NM_001165963.1/0;CC=c.2416-256C>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2332-256C>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2383-256C>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2416-256C>T;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:6:0:0:0:3,3:93,84:8.93,0.00:0.00,0.00:8.93,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:67.7,142.3:0,0:0,0:139,72:12,79:1,29:NM_006920.4(SCN1A) c.2383-256C>T,-:0.79,-:NOT_FOUND,- 2 166897864 rs6432860 A G 111 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=in-clinvar;PAF=A/0.2111,G/0.7889,T/.;PC=0.013;Gene=SCN1A/NM_001165963.1/0;CC=c.2292T>C;ProtCh=p.V764=;VC=Silent;Gene=SCN1A/NM_001165964.1/0;CC=c.2208T>C;ProtCh=p.V736=;VC=Silent;Gene=SCN1A/NM_006920.4/1;CC=c.2259T>C;ProtCh=p.V753=;VC=Silent;Gene=SCN1A/NM_001202435.1/0;CC=c.2292T>C;ProtCh=p.V764=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:41:0:0:21,38:675,1098:0.00,111.01:0.00,53.22:0.00,57.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.3,38.3:0,0:0,0:75,85:75,62:35,38:-,NM_006920.4(SCN1A) c.2259T>C (p.(=)):-,0.79:-,0.723358 2 166897980 . C . . NT END=166898801;NT GT ./. 2 166897989 rs397959165 G GA 22 idl,rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5653,GA/0.4347,GAA/.,GAAA/.,GAAAA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SCN1A/NM_001165963.1/0;CC=c.2177-11dupT;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2093-11dupT;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2144-11dupT;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2177-11dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G,GA,D:30:16:10:6:3,17,8,2:79,489,313,117:5.57,0.00,21.62,4.25:-0.30,0.00,3.55,1.13:5.87,0.00,18.07,3.13:0.00,0.00,0.98,0.00:0.00,0.00,0.97,0.00:0.00,0.00,1.00,0.00:60,60,60,60:84.0,28.6,41.8,48.5:2,0,2,2:0,0,0,0:29,102,99,36:121,30,38,115:22,13,15,4:-,NM_006920.4(SCN1A) c.2144-11_2144-10insT:-,NOT_FOUND:-,NOT_FOUND 2 166898017 rs10198801 G T 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.7919,A/.,T/0.2081;Gene=SCN1A/NM_001165963.1/0;CC=c.2177-38C>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.2093-38C>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2144-38C>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2177-38C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:37:11:0:0:19,18:603,560:0.00,53.41:0.00,7.21:0.00,46.20:0.00,1.00:0.00,1.00:0.00,1.00:60,70:18.0,75.2:0,0:0,0:96,86:55,64:31,33:-,NM_006920.4(SCN1A) c.2144-38C>A:-,0.22:-,0.258212 2 166898935 . C . . NT END=166900178;NT GT ./. 2 166899102 rs10167228 T A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.2107,A/0.7893;Gene=SCN1A/NM_001165963.1/0;CC=c.2044-168A>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1960-168A>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.2011-168A>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.2044-168A>T;VC=Intron;DM=SCN1A/Na_trans_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,T:12:0:0:0:5,7:160,192:14.86,0.00:0.00,0.00:14.86,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:39.2,7.1:0,0:0,0:75,95:76,56:19,20:NM_006920.4(SCN1A) c.2011-168A>T,-:0.79,-:NOT_FOUND,- 2 166900560 . C . . NT END=166901552;NT GT ./. 2 166900606 rs6753355 A C 101 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.2107,C/0.7893;Gene=SCN1A/NM_001165963.1/0;CC=c.1663-47T>G;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1663-47T>G;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1663-47T>G;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1663-47T>G;VC=Intron;DM=SCN1A/Na_trans_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:15:0:0:31,32:1021,1044:0.00,100.65:0.00,14.40:0.00,86.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,45.0:0,0:0,0:107,101:43,48:29,27:-,NM_006920.4(SCN1A) c.1663-47T>G:-,0.79:-,0.727168 2 166901838 . C . . NT END=166903279;NT GT ./. 2 166901897 rs67636132 AG A 47 nt VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=AG/0.7839,A/0.2161;NP=1731;Gene=SCN1A/NM_001165963.1/0;CC=c.1378-61delC;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1378-61delC;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1378-61delC;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1378-61delC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:57:15:0:18:39,18:1308,534:0.00,46.55:0.00,3.59:0.00,42.95:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.5,12.9:0,0:0,0:109,96:35,47:26,27:-,NM_006920.4(SCN1A) c.1378-61delC:-,0.23:-,NOT_FOUND 2 166901988 rs5836074 AT A 10 idl,rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=674;Gene=SCN1A/NM_001165963.1/0;CC=c.1378-152delA;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1378-152delA;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1378-152delA;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1378-152delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:AT,A:12:0:0:6:8,4:238,178:0.00,10.27:0.00,0.00:0.00,10.27:0.00,0.77:0.00,0.00:0.00,0.77:60,60:31.4,27.2:0,2:0,0:118,118:32,32:24,16:-,NM_006920.4(SCN1A) c.1378-152delA:-,NOT_FOUND:-,NOT_FOUND 2 166903188 rs538921 A C 98 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.05371,C/0.9463;Gene=SCN1A/NM_001165963.1/0;CC=c.1377+92T>G;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1377+92T>G;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1377+92T>G;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1377+92T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:28:0:0:28:847:98.01:96.42:1.59:1.00:1.00:1.00:60:51.5:0:0:63:87:33:NM_006920.4(SCN1A) c.1377+92T>G,NM_006920.4(SCN1A) c.1377+92T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 166903228 rs6432861 C T 77 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.5022,T/0.4978;Gene=SCN1A/NM_001165963.1/0;CC=c.1377+52G>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1377+52G>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1377+52G>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1377+52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:38:0:0:15,24:476,772:0.00,77.38:0.00,66.50:0.00,10.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.4,57.5:0,0:0,0:51,33:99,116:31,25:-,NM_006920.4(SCN1A) c.1377+52G>A:-,0.49:-,0.483077 2 166903445 rs7580482 T C 197 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=115;DB;DBA=in-clinvar;PAF=T/0.2907,C/0.7093;PC=0.924;Gene=SCN1A/NM_001165963.1/0;CC=c.1212A>G;ProtCh=p.V404=;VC=Silent;Gene=SCN1A/NM_001165964.1/0;CC=c.1212A>G;ProtCh=p.V404=;VC=Silent;Gene=SCN1A/NM_006920.4/1;CC=c.1212A>G;ProtCh=p.V404=;VC=Silent;Gene=SCN1A/NM_001202435.1/0;CC=c.1212A>G;ProtCh=p.V404=;VC=Silent;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:115:60:0:0:61,54:2026,1748:197.11,0.00:84.51,0.00:112.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,2.0:0,0:0,0:91,90:52,60:27,35:NM_006920.4(SCN1A) c.1212A>G (p.(=)),-:0.72,-:0.639628,- 2 166903487 . C . . NT END=166904136;NT GT ./. 2 166903660 rs13383628 T C 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.5022,C/0.4978;Gene=SCN1A/NM_001165963.1/0;CC=c.1171-174A>G;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1171-174A>G;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1171-174A>G;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1171-174A>G;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:16:0:0:0:11,5:359,168:36.83,0.00:0.00,0.00:36.83,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.6,2.4:0,0:0,0:128,106:23,44:5,29:NM_006920.4(SCN1A) c.1171-174A>G,-:0.49,-:NOT_FOUND,- 2 166904025 rs11690959 G A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5068,A/0.4932;Gene=SCN1A/NM_001165963.1/0;CC=c.1170+112C>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1170+112C>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1170+112C>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1170+112C>T;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:22:0:0:12,11:375,317:36.30,0.00:33.26,0.00:3.03,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:77.8,21.9:0,0:0,0:40,25:108,104:36,17:NM_006920.4(SCN1A) c.1170+112C>T,-:0.48,-:NOT_FOUND,- 2 166904062 rs11690962 G T 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.7839,T/0.2161;Gene=SCN1A/NM_001165963.1/0;CC=c.1170+75C>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1170+75C>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1170+75C>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1170+75C>A;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:32:29:0:0:1,16,15:10,460,459:0.04,0.00,43.72:0.05,0.00,32.03:-0.01,0.00,11.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:102.0,16.2,59.5:0,0,0:0,0,0:46,55,25:105,95,124:0,31,17:-,NM_006920.4(SCN1A) c.1170+75C>A:-,0.23:-,NOT_FOUND 2 166904279 . C . . NT END=166905395;NT GT ./. 2 166904346 rs1461193 G A 79 nt VT=SNV;PN=T;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.2105,A/0.7895;Gene=SCN1A/NM_001165963.1/0;CC=c.1029-68C>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1029-68C>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1029-68C>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1029-68C>T;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:13:0:0:26,27:829,857:79.35,0.00:9.29,0.00:70.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,1.6:0,0:0,0:108,100:42,46:25,28:NM_006920.4(SCN1A) c.1029-68C>T,-:0.79,-:NOT_FOUND,- 2 166905375 rs1542484 A G 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.502,G/0.498;Gene=SCN1A/NM_001165963.1/0;CC=c.1028+21T>C;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.1028+21T>C;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.1028+21T>C;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.1028+21T>C;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:A,G:16:12:0:0:6,10:189,336:0.00,33.77:0.00,25.05:0.00,8.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,47.7:0,0:0,0:77,40:72,103:37,30:-,NM_006920.4(SCN1A) c.1028+21T>C:-,0.49:-,0.476671 2 166905460 . C . . NT END=166908228;NT GT ./. 2 166905480 rs994399 G A 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.2909,A/0.7091,T/.;PC=0.015;Gene=SCN1A/NM_001165963.1/0;CC=c.965-21C>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.965-21C>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.965-21C>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.965-21C>T;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:5:0:0:11,8:369,236:36.57,0.00:2.79,0.00:33.78,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:58.3,7.9:0,0:0,0:81,88:70,61:48,29:NM_006920.4(SCN1A) c.965-21C>T,-:0.72,-:0.639569,- 2 166905572 rs1542483 T A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5022,A/0.4978;Gene=SCN1A/NM_001165963.1/0;CC=c.965-113A>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.965-113A>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.965-113A>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.965-113A>T;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,T:8:1:0:0:5,3:162,89:16.29,0.00:-0.21,0.00:16.50,0.00:0.97,0.00:0.75,0.00:0.97,0.00:60,60:61.4,21.0:0,0:0,0:106,128:44,23:16,21:NM_006920.4(SCN1A) c.965-113A>T,-:0.49,-:NOT_FOUND,- 2 166907971 rs6735104 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2907,T/0.7093;Gene=SCN1A/NM_001165963.1/0;CC=c.964+258G>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.964+258G>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.964+258G>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.964+258G>A;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:6:6:0:0:2,4:67,116:0.00,11.82:0.00,11.82:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,69.8:0,0:0,0:83,100:67,50:23,27:-,NM_006920.4(SCN1A) c.964+258G>A:-,0.72:-,NOT_FOUND 2 166908499 . C . . NT END=166909361;NT GT ./. 2 166909454 . C . . NT END=166911147;NT GT ./. 2 166909544 rs3812718 C T 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=in-clinvar;PAF=C/0.5066,T/0.4934;PC=1.000;Gene=SCN1A/NM_001165963.1/0;CC=c.603-91G>A;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.603-91G>A;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.603-91G>A;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.603-91G>A;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:14:0:0:14,17:476,473:0.00,46.07:0.00,11.33:0.00,34.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,63.8:0,0:0,0:77,64:73,87:49,33:-,NM_006920.4(SCN1A) c.603-91G>A:-,0.48:-,NOT_FOUND 2 166909559 rs3812719 C A 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.2909,A/0.7091;PC=1.000;Gene=SCN1A/NM_001165963.1/0;CC=c.603-106G>T;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.603-106G>T;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.603-106G>T;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.603-106G>T;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:30:13:0:0:18,12:590,371:58.80,0.00:18.01,0.00:40.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.1,0.0:0,0:0,0:66,76:84,74:34,30:NM_006920.4(SCN1A) c.603-106G>T,-:0.72,-:NOT_FOUND,- 2 166909695 rs2217199 A G 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5068,G/0.4932;Gene=SCN1A/NM_001165963.1/0;CC=c.603-242T>C;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.603-242T>C;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.603-242T>C;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.603-242T>C;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:2:0:0:6,9:204,280:0.00,27.85:0.00,0.30:0.00,27.55:0.00,1.00:0.00,0.87:0.00,1.00:60,60:2.8,68.8:0,0:0,0:113,74:38,76:16,24:-,NM_006920.4(SCN1A) c.603-242T>C:-,0.48:-,NOT_FOUND 2 166909751 rs2195144 T C 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.2107,C/0.7893;Gene=SCN1A/NM_001165963.1/0;CC=c.603-298A>G;VC=Intron;Gene=SCN1A/NM_001165964.1/0;CC=c.603-298A>G;VC=Intron;Gene=SCN1A/NM_006920.4/1;CC=c.603-298A>G;VC=Intron;Gene=SCN1A/NM_001202435.1/0;CC=c.603-298A>G;VC=Intron;DM=SCN1A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,T:11:0:0:0:8,3:255,97:26.50,0.00:0.00,0.00:26.50,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:82.1,0.0:0,0:0,0:129,128:21,23:18,11:NM_006920.4(SCN1A) c.603-298A>G,-:0.78,-:NOT_FOUND,- 2 166911277 . C . . NT END=166912920;NT GT ./. 2 166913011 . G . . NT END=166915079;NT GT ./. 2 166915199 . C . . NT END=166929867;NT GT ./. 2 166930132 . C . . NT END=167055181;NT GT ./. 2 166930214 rs566839 T A 147 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.01458,A/0.9854;PC=0.001;Gene=SCN1A/NM_001202435.1/0;CC=c.-49-34A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:12:0:0:39:1284:146.94:25.93:121.01:1.00:1.00:1.00:60:45.1:0:0:93:58:31:NM_006920.4(SCN1A) c.-18-u65A>T,NM_006920.4(SCN1A) c.-18-u65A>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 167056375 . C . . NT END=167060464;NT GT ./. 2 167060449 rs10180721 A T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.09864,T/0.9014;PC=0.379;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.4741+16T>A;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:17:0:0:10,10:329,318:0.00,30.55:0.00,24.75:0.00,5.80:0.00,1.00:0.00,1.00:0.00,0.87:60,60:7.9,31.8:0,0:0,0:38,60:112,89:19,38:-,NM_002977.3(SCN9A) c.4741+16T>A:-,0.9:-,0.886963 2 167060736 . C . . NT END=167060869;NT GT ./. 2 167060975 . G . . NT END=167083076;NT GT ./. 2 167060980 rs77944059 GAAAC G 45 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=GAAAC/0.1012,G/0.8988;DB;DBA=NA;PAF=GAAAC/0.1012,G/0.8988;NP=3183;PC=0.058;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.4366-10_4366-7delGTTT;VC=Intron;DM=SCN9A/Ion_trans;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAAAC,G:36:22:0:16:20,16:691,485:0.00,45.37:0.00,23.53:0.00,21.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,13.2:0,0:0,0:102,100:26,47:32,11:-,NM_002977.3(SCN9A) c.4366-10_4366-7delGTTT:-,0.9:-,0.886121 2 167082978 rs7595255 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1092,C/0.8908;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.4365+99A>G;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:C,T:12:11:0:0:5,7:172,231:16.05,0.00:10.75,0.00:5.29,0.00:0.92,0.00:0.99,0.00:0.72,0.00:60,60:37.6,14.4:0,0:0,0:59,49:91,102:33,28:NM_002977.3(SCN9A) c.4365+99A>G,-:0.89,-:NOT_FOUND,- 2 167083215 . C . . NT END=167084179;NT GT ./. 2 167084234 . C . . NT END=167085200;NT GT ./. 2 167085079 rs58595486 GTT G 25 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=GTT/0.1981,G/0.8019;NP=1906;PC=0.999;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.4173+120_4173+121delAA;VC=Intron;DM=SCN9A/Ion_trans;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTT,G:21:21:0:9:12,9:412,271:0.00,25.16:0.00,25.16:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.2,45.8:0,0:0,0:49,73:102,77:37,44:-,NM_002977.3(SCN9A) c.4173+120_4173+121delAA:-,0.81:-,NOT_FOUND 2 167085124 rs10199799 T G 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.1094,G/0.8906;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.4173+77A>C;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:29:0:0:11,19:360,569:32.70,0.00:31.27,0.00:1.44,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:47.1,8.7:0,0:0,0:55,52:95,98:25,25:NM_002977.3(SCN9A) c.4173+77A>C,-:0.89,-:NOT_FOUND,- 2 167085141 rs58519838 CTT C 41 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=CTT/0.268,C/0.732;NP=3240;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.4173+58_4173+59delAA;VC=Intron;DM=SCN9A/Ion_trans;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:42:39:0:15:27,15:879,459:0.00,41.17:0.00,35.99:0.00,5.18:0.00,1.00:0.00,1.00:0.00,0.88:60,60:6.2,30.5:0,0:0,0:40,21:111,129:27,14:-,NM_002977.3(SCN9A) c.4173+58_4173+59delAA:-,0.74:-,NOT_FOUND 2 167085483 . C . . NT END=167089849;NT GT ./. 2 167089713 rs375885586 A ATATG 16 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1092,ATATG/.,ATATGTATG/0.8908;DB;DBA=NA;PAF=NA;NP=499;PC=0.004;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.3891+136_3891+137insCATA;VC=Intron;DM=SCN9A/Ion_trans;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:A,ATATG:10:10:5:0:5,5:152,164:0.00,15.78:0.00,15.78:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.2,0.0:0,0:0,0:24,56:127,94:7,32:-,NM_002977.3(SCN9A) c.3891+136_3891+137insCATA:-,0.89:-,NOT_FOUND 2 167089973 . C . . NT END=167094603;NT GT ./. 2 167090042 rs722204 G A 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.2392,A/0.7608;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.3769-70C>T;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:22:10:0:0:9,1,12:301,12,390:28.16,0.23,0.00:7.76,-0.08,0.00:20.40,0.31,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:38.1,100.0,9.4:0,0,0:0,0,0:117,27,108:27,114,40:14,0,22:NM_002977.3(SCN9A) c.3769-70C>T,-:0.78,-:NOT_FOUND,- 2 167094778 . C . . NT END=167099011;NT GT ./. 2 167099158 rs6746030 A G 67 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=in-clinvar;PAF=A/0.1128,G/0.8872;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.3448T>C;ProtCh=p.W1150R;VC=Missense;DM=SCN9A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:24:0:0:26,22:879,708:0.00,66.92:0.00,18.65:0.00,48.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,32.6:0,0:0,0:83,82:60,66:29,28:-,NM_002977.3(SCN9A) c.=:-,0.89:-,0.877448 2 167099167 . C . . NT END=167108274;NT GT ./. 2 167108396 . C . . NT END=167128908;NT GT ./. 2 167129386 . C . . NT END=167133492;NT GT ./. 2 167133850 . C . . NT END=167134649;NT GT ./. 2 167134824 . C . . NT END=167136866;NT GT ./. 2 167137106 . C . . NT END=167138188;NT GT ./. 2 167138319 . C . . NT END=167140962;NT GT ./. 2 167138320 rs35888674 T TA 9 rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9429,TA/0.05711,TAA/.;NP=270;PC=1.000;Gene=LOC101929680/NR_110260.1/0;VC=NonCoding;Gene=SCN9A/NM_002977.3/1;CC=c.1942-3dupT;VC=Intron;DM=SCN9A/Na_trans_cytopl;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:T,TA,D:41:21:4:1:36,4,1:1141,132,34:0.00,9.46,1.88:0.00,3.55,-0.14:0.00,5.91,2.02:0.00,0.58,0.00:0.00,0.78,0.00:0.00,0.89,0.00:60,60,60:12.3,0.0,0.0:0,0,0:0,0,0:84,90,75:62,25,76:27,34,0:-,NM_002977.3(SCN9A) c.1942-3_1942-2insT:-,NOT_FOUND:-,NOT_FOUND 2 167141335 . C . . NT END=167142845;NT GT ./. 2 167143134 . C . . NT END=167144946;NT GT ./. 2 167145154 . C . . NT END=167149740;NT GT ./. 2 167149883 . C . . NT END=167151108;NT GT ./. 2 167151173 . C . . NT END=167159599;NT GT ./. 2 167159813 . C . . NT END=167160747;NT GT ./. 2 167159946 rs13017637 C T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7097,T/0.2903;Gene=SCN9A/NM_002977.3/1;CC=c.689-134G>A;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,T:12:0:0:0:5,7:170,231:0.00,22.90:0.00,0.00:0.00,22.90:0.00,0.99:0.00,0.00:0.00,0.99:60,60:4.8,49.3:0,0:0,0:123,112:28,39:26,27:-,NM_002977.3(SCN9A) c.689-134G>A:-,0.28:-,NOT_FOUND 2 167160840 . C . . NT END=167162301;NT GT ./. 2 167162277 rs4429487 G A 220 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.2676,A/0.7324;Gene=SCN9A/NM_002977.3/1;CC=c.596+25C>T;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:A:59:51:0:0:59:1923:220.39:144.11:76.29:1.00:1.00:1.00:60:34.7:0:0:54:90:39:NM_002977.3(SCN9A) c.596+25C>T,NM_002977.3(SCN9A) c.596+25C>T:0.7,0.7:0.755526,0.755526 2 167162431 . C . . NT END=167163019;NT GT ./. 2 167162649 rs10171225 A G 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7492,G/0.2508;Gene=SCN9A/NM_002977.3/1;CC=c.468-219T>C;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:10:1:0:0:4,6:130,201:0.00,20.04:0.00,3.85:0.00,16.18:0.00,0.99:0.00,0.73:0.00,1.00:60,60:3.0,35.0:0,0:0,0:98,88:53,62:12,24:-,NM_002977.3(SCN9A) c.468-219T>C:-,0.22:-,NOT_FOUND 2 167163043 rs9646771 T C 66 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=in-clinvar;PAF=T/0.3588,A/.,C/0.6412;PC=0.453;Gene=SCN9A/NM_002977.3/1;CC=c.444A>G;ProtCh=p.P148=;VC=Silent;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:15:0:0:18:578:66.22:42.45:23.77:1.00:1.00:1.00:60:32.1:0:0:63:84:14:NM_002977.3(SCN9A) c.444A>G (p.(=)),NM_002977.3(SCN9A) c.444A>G (p.(=)):0.64,0.64:0.712969,0.712969 2 167163110 . G . . NT END=167163465;NT GT ./. 2 167163199 rs9646772 A T 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3504,T/0.6496;Gene=SCN9A/NM_002977.3/1;CC=c.378-90T>A;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:6:0:0:17:549:63.01:18.98:44.02:1.00:1.00:1.00:60:35.7:0:0:113:38:19:NM_002977.3(SCN9A) c.378-90T>A,NM_002977.3(SCN9A) c.378-90T>A:0.64,0.64:NOT_FOUND,NOT_FOUND 2 167163372 rs4583483 T C 44 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3998,C/0.6002;PC=0.005;Gene=SCN9A/NM_002977.3/1;CC=c.377+94A>G;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:10:0:0:13:379:44.03:34.93:9.11:1.00:1.00:1.00:60:84.5:0:0:69:82:44:NM_002977.3(SCN9A) c.377+94A>G,NM_002977.3(SCN9A) c.377+94A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 167163373 rs4443015 C A 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4,A/0.6;NP=1176;PC=0.005;Gene=SCN9A/NM_002977.3/1;CC=c.377+93G>T;VC=Intron;DM=SCN9A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:10:0:0:13:390:45.16:35.13:10.03:1.00:1.00:1.00:60:84.5:0:0:70:81:44:NM_002977.3(SCN9A) c.377+93G>T,NM_002977.3(SCN9A) c.377+93G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 167163585 . C . . NT END=167168008;NT GT ./. 2 167163663 rs4447616 C T 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.384,T/0.616;Gene=SCN9A/NM_002977.3/1;CC=c.259-79G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:388:44.95:0.00:44.95:1.00:0.00:1.00:60:41.3:0:0:115:36:31:NM_002977.3(SCN9A) c.259-79G>A,NM_002977.3(SCN9A) c.259-79G>A:0.61,0.61:NOT_FOUND,NOT_FOUND 2 167167892 rs6432899 T A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4257,A/0.5743;Gene=SCN9A/NM_002977.3/1;CC=c.258+117A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:176:20.46:20.46:0.00:1.00:1.00:0.00:60:78.5:0:0:13:137:3:NM_002977.3(SCN9A) c.258+117A>T,NM_002977.3(SCN9A) c.258+117A>T:0.53,0.53:NOT_FOUND,NOT_FOUND 2 167167917 rs6432900 T C 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4257,C/0.5743;Gene=SCN9A/NM_002977.3/1;CC=c.258+92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C,T:20:19:0:0:19,1:634,9:71.01,0.00:62.91,0.00:8.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.6,44.0:0,0:0,0:20,14:130,136:8,0:NM_002977.3(SCN9A) c.258+92A>G,NM_002977.3(SCN9A) c.258+92A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 167168093 rs6432901 C T 375 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=102;DB;DBA=in-clinvar;PAF=C/0.4257,T/0.5743;PC=0.034;Gene=SCN9A/NM_002977.3/1;CC=c.174G>A;ProtCh=p.Q58=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:102:86:0:0:102:3264:374.97:214.00:160.97:1.00:1.00:1.00:60:35.4:0:0:51:92:27:NM_002977.3(SCN9A) c.174G>A (p.(=)),NM_002977.3(SCN9A) c.174G>A (p.(=)):0.56,0.56:0.676909,0.676909 2 167168267 . C . . NT END=167262089;NT GT ./. 2 167168464 rs4131162 A G 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4267,G/0.5733;PC=0.012;Gene=SCN9A/NM_002977.3/1;CC=c.-50-148T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A,G:12:0:0:0:1,11:9,341:0.00,38.00:0.00,0.00:0.00,38.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:58.0,66.2:0,0:0,0:111,105:40,46:0,33:NM_002977.3(SCN9A) c.-50-148T>C,NM_002977.3(SCN9A) c.-50-148T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 2 167168538 rs4131161 G C 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4257,C/0.5743;Gene=SCN9A/NM_002977.3/1;CC=c.-50-222C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:0:0:0:7:175:20.72:0.00:20.72:1.00:0.00:1.00:60:59.9:0:0:83:68:19:NM_002977.3(SCN9A) c.-50-222C>G,NM_002977.3(SCN9A) c.-50-222C>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 167263157 . C . . NT END=167266174;NT GT ./. 2 167266446 . C . . NT END=167266729;NT GT ./. 2 167266835 . G . . NT END=167269039;NT GT ./. 2 167269178 . C . . NT END=167269577;NT GT ./. 2 167269632 . C . . NT END=167273216;NT GT ./. 2 167273037 rs10930221 C G 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6859,G/0.3141;PC=0.031;Gene=SCN7A/NM_002976.3/1;CC=c.3414+180G>C;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,G:11:11:0:0:7,4:229,107:0.00,9.46:0.00,9.46:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:3.4,36.0:0,0:0,0:18,62:132,88:8,21:-,NM_002976.3(SCN7A) c.3414+180G>C:-,0.34:-,NOT_FOUND 2 167273496 . C . . NT END=167277699;NT GT ./. 2 167277808 . C . . NT END=167279768;NT GT ./. 2 167279922 rs6738031 C A 77 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.2554,A/0.7446;Gene=SCN7A/NM_002976.3/1;CC=c.2874G>T;ProtCh=p.M958I;VC=Missense;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:44:21:0:0:24,20:789,646:77.20,0.00:21.44,0.00:55.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,11.2:0,0:0,0:79,68:61,83:31,37:NM_002976.3(SCN7A) c.2874G>T (p.Met958Ile),-:0.74,-:0.755467,- 2 167279943 . C . . NT END=167284297;NT GT ./. 2 167284453 . C . . NT END=167285678;NT GT ./. 2 167284520 rs3748895 T C 80 nt VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.7776,C/0.2224;Gene=SCN7A/NM_002976.3/1;CC=c.2699-68A>G;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:22:0:0:26,28:836,893:79.73,0.00:21.65,0.00:58.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,13.1:0,0:0,0:113,94:37,57:17,24:NM_002976.3(SCN7A) c.2699-68A>G,-:0.22,-:NOT_FOUND,- 2 167284704 rs4550683 C G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3053,G/0.6947;PC=0.002;Gene=SCN7A/NM_002976.3/1;CC=c.2699-252G>C;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,G:8:0:0:0:4,4:138,138:0.00,13.30:0.00,0.00:0.00,13.30:0.00,0.87:0.00,0.00:0.00,0.87:60,60:4.8,80.2:0,0:0,0:108,111:41,40:28,15:-,NM_002976.3(SCN7A) c.2699-252G>C:-,0.69:-,NOT_FOUND 2 167285785 . C . . NT END=167288827;NT GT ./. 2 167289263 . C . . NT END=167297905;NT GT ./. 2 167298263 . C . . NT END=167300012;NT GT ./. 2 167300187 . C . . NT END=167301271;NT GT ./. 2 167300460 rs7570201 C A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4273,A/0.5727;Gene=SCN7A/NM_002976.3/1;CC=c.1627-274G>T;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,C:5:0:0:0:3,2:87,66:8.67,0.00:0.00,0.00:8.67,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:29.0,45.5:0,0:0,0:117,94:34,56:3,3:NM_002976.3(SCN7A) c.1627-274G>T,-:0.58,-:NOT_FOUND,- 2 167301511 . C . . NT END=167304121;NT GT ./. 2 167304219 . C . . NT END=167313379;NT GT ./. 2 167313313 rs67265532 AATAT A 17 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=AATAT/0.1214,A/0.8786;DB;DBA=NA;PAF=AATAT/0.1214,A/0.8786;NP=19;PC=0.001;Gene=SCN7A/NM_002976.3/1;CC=c.1290+63_1290+66delATAT;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:AATAT,A:26:28:0:9:19,7:622,271:0.00,17.35:0.00,17.41:0.00,-0.06:0.00,0.96:0.00,0.96:0.00,0.50:60,60:119.3,11.9:0,2:0,0:50,17:101,134:30,10:-,NM_002976.3(SCN7A) c.1290+63_1290+66delATAT:-,NOT_FOUND:-,NOT_FOUND 2 167313325 rs200546086 T G 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=4;PC=0.003;Gene=SCN7A/NM_002976.3/1;CC=c.1290+55A>C;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:28:0:0:18,10:573,333:57.93,0.00:56.21,0.00:1.72,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:125.9,11.4:0,9:0,0:53,23:98,128:27,12:NM_002976.3(SCN7A) c.1290+55A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 167313329 rs71428927 T C 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.1214,G/0.8786;NP=24;PC=0.002;Gene=SCN7A/NM_002976.3/1;CC=c.1290+51A>G;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:27:0:0:17,10:577,333:58.08,0.00:56.36,0.00:1.72,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:131.6,11.4:0,3:0,0:47,27:104,124:19,12:NM_002976.3(SCN7A) c.1290+51A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 167313333 rs56951383 T G 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.1214,C/0.8786,G/.;NP=103;NP=280;NP=3;PC=0.037;Gene=SCN7A/NM_002976.3/1;CC=c.1290+47A>C;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:28:0:0:16,12:537,387:53.02,0.00:49.47,0.00:3.55,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:137.2,11.8:0,0:0,0:51,28:99,122:20,19:NM_002976.3(SCN7A) c.1290+47A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 167313337 rs7593207 T G 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4113,G/0.5887;NP=2;NP=279;PC=0.015;Gene=SCN7A/NM_002976.3/1;CC=c.1290+43A>C;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:29:0:0:17,12:551,385:54.63,0.00:49.25,0.00:5.38,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:131.2,8.9:0,0:0,0:55,32:96,118:21,26:NM_002976.3(SCN7A) c.1290+43A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 167313587 . C . . NT END=167318898;NT GT ./. 2 167319041 . C . . NT END=167321971;NT GT ./. 2 167322042 . C . . NT END=167322290;NT GT ./. 2 167322498 . C . . NT END=167327124;NT GT ./. 2 167322522 rs7593452 G A 38 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.7692,A/0.2308;Gene=SCN7A/NM_002976.3/1;CC=c.665-25C>T;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:11:0:0:13,21:419,708:38.28,0.00:0.73,0.00:37.55,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:40.6,2.1:0,0:0,0:79,85:72,56:29,37:NM_002976.3(SCN7A) c.665-25C>T,-:0.23,-:0.289104,- 2 167327064 rs12992062 A G 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.765,G/0.235;Gene=SCN7A/NM_002976.3/1;CC=c.664+61T>C;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:19:0:0:10,10:309,337:0.00,32.47:0.00,27.50:0.00,4.96:0.00,1.00:0.00,1.00:0.00,0.51:60,60:7.3,33.7:0,0:0,0:46,44:105,106:25,31:-,NM_002976.3(SCN7A) c.664+61T>C:-,0.23:-,NOT_FOUND 2 167327217 . C . . NT END=167328826;NT GT ./. 2 167328750 rs2293567 C T 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.3141,T/0.6859;Gene=SCN7A/NM_002976.3/1;CC=c.572+77G>A;VC=Intron;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:21:0:0:8,15:258,464:0.00,47.11:0.00,42.77:0.00,4.35:0.00,1.00:0.00,1.00:0.00,0.99:60,60:2.5,35.3:0,0:0,0:43,40:106,109:16,32:-,NM_002976.3(SCN7A) c.572+77G>A:-,0.68:-,NOT_FOUND 2 167328956 . C . . NT END=167330308;NT GT ./. 2 167330399 . G . . NT END=167330735;NT GT ./. 2 167330855 . C . . NT END=167333972;NT GT ./. 2 167334085 rs7565062 G T 88 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.3113,T/0.6887;Gene=SCN7A/NM_002976.3/1;CC=c.122C>A;ProtCh=p.T41N;VC=Missense;Gene=SCN7A/NR_045628.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:51:37:0:0:23,28:793,896:0.00,87.68:0.00,49.83:0.00,37.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,35.4:0,0:0,0:76,69:71,81:37,38:-,NM_002976.3(SCN7A) c.122C>A (p.Thr41Asn):-,0.69:-,0.701658 2 167334207 . T . . NT END=167759992;NT GT ./. 2 167540885 rs6432940 G T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4493,T/0.5507;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:137:16.05:10.23:5.82:1.00:1.00:1.00:70:44.8:0:0:44:95:15:chr2 g.167540884G>T (intergenic),chr2 g.167540884G>T (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 2 167572125 rs6717288 T C 14 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4692,C/0.5308;PC=0.195 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:119:13.81:1.94:11.87:1.00:1.00:1.00:40:35.5:0:0:104:46:27:chr2 g.167572124T>C (intergenic),chr2 g.167572124T>C (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 2 167759948 rs7599152 C T 228 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.3778,T/0.6222;PC=0.002;Gene=XIRP2/NM_001079810.3/0;CC=c.-18-27C>T;VC=Intron;Gene=XIRP2/NM_001199143.1/1;CC=c.-18-27C>T;VC=Intron;Gene=XIRP2/NM_152381.5/0;CC=c.-18-27C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:T:64:55:0:0:64:1981:228.39:166.42:61.98:1.00:1.00:1.00:60:42.8:0:0:38:108:24:NM_152381.5(XIRP2) c.-18-27C>T,NM_152381.5(XIRP2) c.-18-27C>T:0.62,0.62:0.521732,0.521732 2 167760401 . G . . NT END=167992418;NT GT ./. 2 167760451 rs5836125 AG A 82 nt VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=AG/0.8411,A/0.1589;NP=1344;Gene=XIRP2/NM_001079810.3/0;CC=c.408+52delG;VC=Intron;Gene=XIRP2/NM_001199143.1/1;CC=c.408+52delG;VC=Intron;Gene=XIRP2/NM_152381.5/0;CC=c.408+52delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:79:20:0:31:48,31:1589,902:0.00,81.99:0.00,8.83:0.00,73.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,11.2:0,0:0,0:106,112:43,39:25,18:-,NM_152381.5(XIRP2) c.408+52delG:-,0.16:-,0.208233 2 167992573 . G . . NT END=168043792;NT GT ./. 2 168044042 . G . . NT END=168067244;NT GT ./. 2 168067406 . G . . NT END=168074675;NT GT ./. 2 168074811 . G . . NT END=168096364;NT GT ./. 2 168096476 . G . . NT END=168097173;NT GT ./. 2 168097247 . G . . NT END=168098286;NT GT ./. 2 168098421 . G . . NT END=168099078;NT GT ./. 2 168108458 . G . . NT END=168110541;NT GT ./. 2 168110676 . G . . NT END=168114366;NT GT ./. 2 168115874 . A . . NT END=168725549;NT GT ./. 2 168160192 rs535369991 C G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1979,G/0.8021;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:140:15.91:3.98:11.93:1.00:1.00:1.00:60:57.5:0:0:68:52:12:chr2 g.168160191C>G (intergenic),chr2 g.168160191C>G (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 2 168222095 rs368306361 T TAC 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=50;NP=6;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TAC:5:5:4:0:1,4:34,127:0.00,13.52:0.00,8.20:0.00,5.32:0.00,0.96:0.00,0.96:0.00,0.99:45,60:67.0,0.0:0,0:0,0:82,44:41,78:0,32:-,chr2 g.168222095_168222096insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 168405195 rs77290218 A AGT 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=2;NP=2;NP=3;NP=41;NP=6;NP=6;PC=0.002;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,AGT:3:3:3:0:1,2:35,98:0.00,6.45:0.00,-0.15:0.00,6.60:0.00,0.51:0.00,0.89:0.00,0.51:60,70:9.0,19.5:0,1:0,0:112,44:30,107:0,24:-,chr2 g.168405195_168405196insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 168507777 rs58985164 TGTGTGCGC T 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=27;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:4:4:120:13.90:3.88:10.03:1.00:1.00:1.00:70:23.2:0:0:56:94:42:chr2 g.168507778_168507785delGTGTGCGC (intergenic),chr2 g.168507778_168507785delGTGTGCGC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 168533014 rs4667961 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.649,T/0.351;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:4:3:0:0:2,2:61,67:0.00,6.45:0.00,5.16:0.00,1.29:0.00,0.51:0.00,0.89:0.00,0.89:60,60:21.5,39.0:0,0:0,0:110,82:40,68:30,34:-,chr2 g.168533013C>T (intergenic):-,0.34:-,NOT_FOUND 2 168570189 rs189108918 A G 107 nt VT=SNV;PN=G;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.9972,G/0.002796;NP=51;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:70:66:0:0:31,38,1:930,1096,9:0.00,107.05,-0.08:0.00,101.48,-0.05:0.00,5.57,-0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,58:21.5,39.9,123.0:0,0,0:0,0,0:41,40,107:110,109,42:22,28,0:-,chr2 g.168570188A>G (intergenic):-,0.0018:-,NOT_FOUND 2 168570749 rs12987185 G A 127 nt VT=SNV;PN=T;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.8305,A/0.1695;PC=0.961 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:108:80:0:0:43,65:1384,2115:127.33,0.00:73.70,0.00:53.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.3,6.1:0,0:0,0:62,70:89,77:28,29:chr2 g.168570748G>A (intergenic),-:0.16,-:NOT_FOUND,- 2 168570776 rs7577697 T C 117 nt VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.5739,C/0.4261;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:114:85:0:0:43,71:1295,2366:117.19,0.00:78.45,0.00:38.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.7,6.4:0,0:0,0:78,88:73,58:27,30:chr2 g.168570775T>C (intergenic),-:0.42,-:NOT_FOUND,- 2 168571564 rs34416992 A G 431 nt VT=SNV;PN=T;NN=A;SST=Single;DP=305;DB;DBA=NA;PAF=A/0.8341,G/0.1659;PC=0.717 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:305:215:0:0:168,137:5278,4567:0.00,430.99:0.00,254.44:0.00,176.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,38.6:0,0:0,0:66,74:82,75:36,41:-,chr2 g.168571563A>G (intergenic):-,0.17:-,NOT_FOUND 2 168572093 rs10168562 G T 749 nt VT=SNV;PN=T;NN=G;SST=Single;DP=205;DB;DBA=NA;PAF=G/0.2163,T/0.7837;PC=0.965 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:205:156:0:0:1,204:12,6540:0.00,749.07:0.00,498.57:0.00,250.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:143.0,69.9:0,0:0,0:125,44:13,104:0,32:chr2 g.168572092G>T (intergenic),chr2 g.168572092G>T (intergenic):0.78,0.78:NOT_FOUND,NOT_FOUND 2 168572098 rs10192010 A G 781 nt VT=SNV;PN=A;NN=T;SST=Single;DP=207;DB;DBA=NA;PAF=A/0.229,G/0.771;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:207:155:0:0:207:6827:781.22:504.37:276.85:1.00:1.00:1.00:60:70.6:0:0:46:102:32:chr2 g.168572097A>G (intergenic),chr2 g.168572097A>G (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 2 168572438 rs4667969 G A 817 nt VT=SNV;PN=C;NN=C;SST=Single;DP=224;DB;DBA=NA;PAF=G/0.03155,A/0.9685;PC=0.849 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:224:130:0:0:224:7104:816.87:374.78:442.09:1.00:1.00:1.00:60:40.9:0:0:100:51:28:chr2 g.168572437G>A (intergenic),chr2 g.168572437G>A (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 2 168708977 rs142721125 GGTGT G 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=8;Gene=LOC105616981/NR_131227.1/0;VC=NonCoding;Gene=B3GALT1/NM_020981.3/1;CC=c.-229-16309_-229-16306delGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:4:4:129:14.81:7.30:7.50:1.00:1.00:1.00:60:30.8:0:0:40:110:29:NM_020981.3(B3GALT1) c.-229-16343_-229-16340delGTGT,NM_020981.3(B3GALT1) c.-229-16343_-229-16340delGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 168720500 rs79219770 A G,ATGTG 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.9852,G/0.01478;NP=18;NP=5;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:31:A,G,ATGTG,D:6:5:2:1:1,2,2,1:31,66,66,34:0.00,6.42,6.42,3.02:0.00,1.61,4.81,3.06:0.00,4.81,1.61,-0.04:0.00,0.42,0.00,0.00:0.00,0.86,0.00,0.00:0.00,0.81,0.00,0.00:60,60,60,60:0.0,75.5,0.0,10.0:0,0,0,0:0,0,0,0:122,68,21,85:29,72,97,65:0,25,5,0:NM_020981.3(B3GALT1) c.-229-4821A>G,NM_020981.3(B3GALT1) c.-229-4821_-229-4820insTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 168726531 . G . . NT END=168812005;NT GT ./. 2 168726659 rs12466817 A C 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.8151,C/0.1849;PC=0.791;Gene=LOC105616981/NR_131227.1/0;VC=NonCoding;Gene=B3GALT1/NM_020981.3/1;CC=c.*129A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:16:0:0:0:7,9:220,303:0.00,29.83:0.00,0.00:0.00,29.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.7,40.4:0,0:0,0:122,74:28,77:21,30:-,NM_020981.3(B3GALT1) c.*129A>C:-,0.19:-,NOT_FOUND 2 168812081 . C . . NT END=168821171;NT GT ./. 2 168821237 . C . . NT END=168869143;NT GT ./. 2 168869213 . C . . NT END=168873552;NT GT ./. 2 168873606 . C . . NT END=168920009;NT GT ./. 2 168873754 rs201756117 GAT G 28 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GAT/0.9928,G/0.007188;NP=38;Gene=STK39/NM_013233.2/1;CC=c.1377-151_1377-150delAT;VC=Intron;DM=STK39/OSR1_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAT,G:16:0:0:9:7,9:237,284:0.00,27.93:0.00,0.00:0.00,27.93:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.1,5.7:0,0:0,0:31,82:120,69:25,27:-,NM_013233.2(STK39) c.1377-151_1377-150delAT:-,0.01:-,NOT_FOUND 2 168920081 . C . . NT END=168921828;NT GT ./. 2 168921892 . C . . NT END=168931491;NT GT ./. 2 168931522 . C . . NT END=168931618;NT GT ./. 2 168931742 . C . . NT END=168986050;NT GT ./. 2 168986117 . C . . NT END=168986219;NT GT ./. 2 168986154 rs925846 A G 315 nt VT=SNV;PN=T;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.1971,G/0.8029;Gene=STK39/NM_013233.2/1;CC=c.1024-38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:56:0:0:85:2745:314.79:177.57:137.22:1.00:1.00:1.00:60:39.3:0:0:91:59:33:NM_013233.2(STK39) c.1024-38T>C,NM_013233.2(STK39) c.1024-38T>C:0.81,0.81:0.807318,0.807318 2 168986269 . C . . NT END=168994597;NT GT ./. 2 168986376 rs2246258 T G 106 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.2071,C/.,G/0.7929;PC=1.000;Gene=STK39/NM_013233.2/1;CC=c.975-108A>C;VC=Intron;DM=STK39/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:6:0:0:28:931:106.45:13.42:93.03:1.00:1.00:1.00:60:38.0:0:0:108:42:35:NM_013233.2(STK39) c.975-108A>C,NM_013233.2(STK39) c.975-108A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 168994732 . C . . NT END=168996798;NT GT ./. 2 168996901 . C . . NT END=168997158;NT GT ./. 2 168997269 . C . . NT END=169018296;NT GT ./. 2 169018353 . C . . NT END=169020151;NT GT ./. 2 169020242 . G . . NT END=169020248;NT GT ./. 2 169020391 . C . . NT END=169023808;NT GT ./. 2 169023918 . C . . NT END=169038487;NT GT ./. 2 169038601 . C . . NT END=169103737;NT GT ./. 2 169038779 rs369034942 G GA 11 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.002;Gene=STK39/NM_013233.2/1;CC=c.209-180dupT;VC=Intron;DM=STK39/Pkinase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,C,G,GA:15:0:4:0:1,1,9,4:8,10,296,122:0.03,0.17,0.00,10.60:0.00,0.00,0.00,0.00:0.03,0.17,0.00,10.60:0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.76:60,60,60,60:17.0,10.0,13.6,7.0:0,0,0,0:0,0,0,0:65,43,106,81:86,107,43,69:0,0,18,31:-,NM_013233.2(STK39) c.209-180_209-179insT:-,NOT_FOUND:-,NOT_FOUND 2 169103571 . T TTAAA 57 idl,nt VT=INS;SST=Single;DP=26;NP=2;NP=32;NP=4;PC=0.010;Gene=STK39/NM_013233.2/1;CC=c.208+166_208+167insTTTA;VC=Intron;DM=STK39/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TTAAA:19:26:24:0:2,17:63,743:0.00,56.55:0.00,56.55:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:113.0,80.4:2,7:0,0:65,27:84,123:54,19:-,NM_013233.2(STK39) c.208+166_208+167insTTTA:-,NOT_FOUND:-,NOT_FOUND 2 169103796 rs537577117 C CGCCGGG 262 PASS VT=INS;SST=Single;DP=161;DB;DBA=NA;PAF=C/0.6342,CGCCGGG/0.3658;NP=15;PC=0.979;Gene=STK39/NM_013233.2/1;CC=c.149_150insCCCGGC;ProtCh=p.A50_A51insPA;VC=InFrameIns;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CGCCGGG:161:104:85:0:76,85:2265,2699:0.00,262.24:0.00,138.80:0.00,123.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:11.2,7.2:2,0:0,0:122,65:25,81:11,21:-,NM_013233.2(STK39) c.144_149dupCCCGGC (p.Pro49_Ala50dup):-,NOT_FOUND:-,0.585106 2 169103946 . G . . NT END=169312958;NT GT ./. 2 169104054 rs571309687 C CCCGCCGCCGCCG 33 idl,nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.5707,CCCGCCGCCGCCG/0.4293;NP=17;NP=2;NP=33;PC=0.334;Gene=STK39/NM_013233.2/1;CC=c.-110_-109insCGGCGGCGGCGG;VC=5UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CCCGCCGCCGCCG:25:19:15:0:13,1,11:422,36,460:0.00,2.41,33.13:0.00,-0.09,7.00:0.00,2.50,26.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.5,120.0,20.3:0,0,4:0,0,0:133,101,48:18,41,69:9,0,24:-,NM_013233.2(STK39) c.-127CGG[10]:-,NOT_FOUND:-,NOT_FOUND 2 169135608 rs60611507 T TTGTG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=42;NP=67;PC=0.019;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:T,TTGTG:5:5:4:0:2,3:65,130:0.00,9.83:0.00,4.91:0.00,4.91:0.00,0.73:0.00,0.96:0.00,0.51:60,60:55.5,3.3:0,1:0,0:56,29:70,119:35,10:-,chr2 g.169135608_169135609insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 169291736 rs79580068 A AGTGTGT 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=122;NP=2;NP=6;NP=60;NP=8;NP=8;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,AGTGTGT:5:5:3:0:2,3:48,99:0.00,9.88:0.00,6.48:0.00,3.41:0.00,0.78:0.00,0.78:0.00,0.94:60,70:5.0,0.0:0,0:0,0:95,84:42,67:27,33:-,chr2 g.169291736_169291737insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 169312649 rs1823715 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.007188,C/0.9928;NP=7;PC=0.179 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:141:16.46:16.46:0.00:1.00:1.00:0.00:60:50.8:0:0:12:139:6:NM_001256126.1(CERS6) c.-200-u110T>C,NM_001256126.1(CERS6) c.-200-u110T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 169313129 . G . . NT END=169404105;NT GT ./. 2 169404212 . G . . NT END=169417701;NT GT ./. 2 169408859 . TACAC T 16 idl,rn VT=DEL;SST=Single;DP=8;NP=41;Gene=CERS6/NM_001256126.1/1;CC=c.276+4687_276+4690delACAC;VC=Intron;Gene=CERS6/NM_203463.2/0;CC=c.276+4687_276+4690delACAC;VC=Intron;DM=CERS6/Homeobox;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:6:0:8:5:241:16.26:7.83:8.43:0.97:1.00:0.95:60:59.8:3:0:74:72:17:NM_001256126.1(CERS6) c.276+4649_276+4652delACAC,NM_001256126.1(CERS6) c.276+4649_276+4652delACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 169417833 . G . . NT END=169487494;NT GT ./. 2 169418006 rs6433073 C A 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.08347,A/0.9165;Gene=CERS6/NM_001256126.1/1;CC=c.407+174C>A;VC=Intron;Gene=CERS6/NM_203463.2/0;CC=c.407+174C>A;VC=Intron;DM=CERS6/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:0:0:0:14:373:43.87:0.00:43.87:1.00:0.00:1.00:60:39.6:0:0:106:44:27:NM_001256126.1(CERS6) c.407+174C>A,NM_001256126.1(CERS6) c.407+174C>A:0.89,0.89:NOT_FOUND,NOT_FOUND 2 169487553 . G . . NT END=169500657;NT GT ./. 2 169487610 rs562082225 GT G 16 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1583;PC=0.012;Gene=CERS6/NM_001256126.1/1;CC=c.465+69delT;VC=Intron;Gene=CERS6/NM_203463.2/0;CC=c.465+69delT;VC=Intron;DM=CERS6/TRAM_LAG1_CLN8;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:GT,G:7:4:0:6:2,5:57,181:0.00,15.61:0.00,4.78:0.00,10.83:0.00,0.97:0.00,0.98:0.00,1.00:60,60:0.0,28.0:0,1:0,0:146,126:4,25:2,6:-,NM_001256126.1(CERS6) c.465+59delT:-,NOT_FOUND:-,NOT_FOUND 2 169487668 rs4667585 A C 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4385,C/0.5615;PC=0.001;Gene=CERS6/NM_001256126.1/1;CC=c.465+116A>C;VC=Intron;Gene=CERS6/NM_203463.2/0;CC=c.465+116A>C;VC=Intron;DM=CERS6/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:154:17.78:0.00:17.78:1.00:0.00:1.00:60:30.8:0:0:111:40:37:NM_001256126.1(CERS6) c.465+116A>C,NM_001256126.1(CERS6) c.465+116A>C:0.64,0.64:NOT_FOUND,NOT_FOUND 2 169500832 . G . . NT END=169547543;NT GT ./. 2 169547595 . G . . NT END=169551468;NT GT ./. 2 169551562 . G . . NT END=169571510;NT GT ./. 2 169571414 rs13014488 G T 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.7041,T/0.2959;Gene=CERS6/NM_001256126.1/1;CC=c.610-97G>T;VC=Intron;Gene=CERS6/NM_203463.2/0;CC=c.610-97G>T;VC=Intron;DM=CERS6/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:25:0:0:27:851:97.90:76.77:21.12:1.00:1.00:1.00:60:32.4:0:0:51:100:26:NM_001256126.1(CERS6) c.610-97G>T,NM_001256126.1(CERS6) c.610-97G>T:0.29,0.29:NOT_FOUND,NOT_FOUND 2 169571640 . G . . NT END=169574381;NT GT ./. 2 169574489 . G . . NT END=169622101;NT GT ./. 2 169608829 rs3067009 A G 16 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4718,G/0.5282;NP=346;Gene=CERS6/NM_001256126.1/1;CC=c.846-13273A>G;VC=Intron;Gene=CERS6/NM_203463.2/0;CC=c.846-13273A>G;VC=Intron;DM=CERS6/TRAM_LAG1_CLN8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:138:15.71:1.99:13.72:1.00:1.00:1.00:60:46.2:0:0:76:59:20:NM_001256126.1(CERS6) c.846-13273A>G,NM_001256126.1(CERS6) c.846-13273A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 169622259 . G . . NT END=169622831;NT GT ./. 2 169622856 . G . . NT END=169626019;NT GT ./. 2 169626173 . T . . NT END=169659156;NT GT ./. 2 169658944 rs6433093 A C 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.2446,C/0.7554;Gene=NOSTRIN/NM_001171631.1/1;CC=c.-213A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,C:21:21:0:0:5,16:168,472:0.00,49.78:0.00,49.78:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.6,60.7:0,0:0,0:45,59:106,89:29,21:-,NM_001171631.1(NOSTRIN) c.-213A>C:-,0.75:-,NOT_FOUND 2 169659184 . G . . NT END=169668076;NT GT ./. 2 169668163 . G . . NT END=169681143;NT GT ./. 2 169681228 . G . . NT END=169684667;NT GT ./. 2 169681278 rs200100891 T TTTTGTTTGTTTG 10 nt VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.7188,TG/0.2812,TTTTG/.,TTTTGTTTG/.,TTTTGTTTGTTTG/.,TTTTGTTTGTTTGTTTG/.,TTTTGTTTGTTTGTTTGTTTG/.;DB;DBA=NA;PAF=NA;NP=24;NP=262;NP=37;NP=8;PC=0.024;Gene=NOSTRIN/NM_001171631.1/1;CC=c.197+74_197+75insGTTTGTTTGTTT;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.197+74_197+75insGTTTGTTTGTTT;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.114-3367_114-3366insGTTTGTTTGTTT;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.-38+74_-38+75insGTTTGTTTGTTT;VC=Intron;DM=NOSTRIN/FCH;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:T,TTTTGTTTGTTTG:43:15:5:0:39,4:1240,168:0.00,9.53:0.00,3.97:0.00,5.57:0.00,0.57:0.00,0.66:0.00,0.93:60,60:9.4,8.8:0,1:0,0:129,42:22,108:14,6:-,NM_001171631.1(NOSTRIN) c.197+51_197+52insTTTGTTTGTTTG:-,NOT_FOUND:-,NOT_FOUND 2 169684457 rs700548 A G 59 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.03275,G/0.9673;PC=0.008;Gene=NOSTRIN/NM_001171631.1/1;CC=c.198-211A>G;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.198-211A>G;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.114-211A>G;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.-37-211A>G;VC=Intron;DM=NOSTRIN/FCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:521:59.25:59.25:0.00:1.00:1.00:0.00:60:38.8:0:0:68:83:22:NM_001171631.1(NOSTRIN) c.198-211A>G,NM_001171631.1(NOSTRIN) c.198-211A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 169684731 . G . . NT END=169684929;NT GT ./. 2 169685012 . G . . NT END=169687981;NT GT ./. 2 169687680 rs519599 A G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.08586,G/0.9141;Gene=NOSTRIN/NM_001171631.1/1;CC=c.343-302A>G;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.343-302A>G;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.259-302A>G;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.109-302A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:150:17.38:17.38:0.00:1.00:1.00:0.00:60:65.6:0:0:55:96:22:NM_001171631.1(NOSTRIN) c.343-302A>G,NM_001171631.1(NOSTRIN) c.343-302A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 169688045 . G . . NT END=169690736;NT GT ./. 2 169690729 rs522893 T C 169 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.3754,C/0.6246;Gene=NOSTRIN/NM_001171631.1/1;CC=c.406-8T>C;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.406-8T>C;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.322-8T>C;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.172-8T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:40:0:0:43:1488:169.31:127.35:41.96:1.00:1.00:1.00:60:37.4:0:0:33:115:18:NM_001171631.1(NOSTRIN) c.406-8T>C,NM_001171631.1(NOSTRIN) c.406-8T>C:0.58,0.58:0.535397,0.535397 2 169690836 . G . . NT END=169699501;NT GT ./. 2 169699331 rs78051255 T C 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.9465,C/0.05351;Gene=NOSTRIN/NM_001171631.1/1;CC=c.505-171T>C;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.505-171T>C;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.421-171T>C;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.271-171T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:8,12:244,326:22.35,0.00:22.35,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:88.0,48.2:0,0:0,0:59,18:91,127:34,16:NM_001171631.1(NOSTRIN) c.505-171T>C,-:0.07,-:NOT_FOUND,- 2 169699350 rs518337 G A 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4868,A/0.5132;Gene=NOSTRIN/NM_001171631.1/1;CC=c.505-152G>A;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.505-152G>A;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.421-152G>A;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.271-152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:26:0:0:26:801:92.41:92.41:0.00:1.00:1.00:0.00:60:57.5:0:0:24:126:19:NM_001171631.1(NOSTRIN) c.505-152G>A,NM_001171631.1(NOSTRIN) c.505-152G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 2 169699628 . G . . NT END=169707345;NT GT ./. 2 169707428 rs540652 C T 227 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.5385,T/0.4615;Gene=NOSTRIN/NM_001171631.1/1;CC=c.713C>T;ProtCh=p.T238I;VC=Missense;Gene=NOSTRIN/NM_001039724.3/0;CC=c.631-166C>T;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.547-166C>T;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.397-166C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:T:62:46:0:0:62:1971:226.51:135.42:91.08:1.00:1.00:1.00:60:42.1:0:0:61:87:30:NM_001171631.1(NOSTRIN) c.713C>T (p.Thr238Ile),NM_001171631.1(NOSTRIN) c.713C>T (p.Thr238Ile):0.45,0.45:0.399036,0.399036 2 169707517 . G . . NT END=169707593;NT GT ./. 2 169707552 rs488621 A G 231 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.5319,G/0.4681,T/.;Gene=NOSTRIN/NM_001171631.1/1;CC=c.801+36A>G;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.631-42A>G;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.547-42A>G;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.397-42A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:67:46:0:0:67:1998:231.17:112.44:118.72:1.00:1.00:1.00:60:38.6:0:0:50:100:28:NM_001171631.1(NOSTRIN) c.801+36A>G,NM_001171631.1(NOSTRIN) c.801+36A>G:0.46,0.46:0.388689,0.388689 2 169707693 . G . . NT END=169707788;NT GT ./. 2 169707915 . G . . NT END=169711861;NT GT ./. 2 169711971 . G . . NT END=169713199;NT GT ./. 2 169713084 rs556860411 T TA 60 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.4655,TA/0.5345;DB;DBA=NA;PAF=NA;NP=853;PC=0.004;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1136-105_1136-104insA;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.965-105_965-104insA;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.881-105_881-104insA;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.731-105_731-104insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:T,TA:25:28:23:0:6,19:189,675:0.00,59.99:0.00,54.80:0.00,5.19:0.00,1.00:0.00,1.00:0.00,0.90:60,60:1.8,20.4:0,4:0,0:95,28:55,115:34,16:-,NM_001171631.1(NOSTRIN) c.1136-116_1136-115insA:-,NOT_FOUND:-,NOT_FOUND 2 169713289 . G . . NT END=169716021;NT GT ./. 2 169716148 . G . . NT END=169717304;NT GT ./. 2 169717179 . T TA 29 idl,rn VT=INS;SST=Single;DP=21;NP=325;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1351-114_1351-113insA;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1180-114_1180-113insA;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1096-114_1096-113insA;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.946-114_946-113insA;VC=Intron;DM=NOSTRIN/SH3_9;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,T,TA,D:18:21:12:2:1,6,9,2:19,187,381,60:0.96,0.00,29.43,4.65:0.96,0.00,29.43,4.65:0.00,0.00,0.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00:60,60,60,60:71.0,11.7,14.4,7.0:1,0,3,0:0,0,0,0:65,100,53,22:85,48,97,128:0,21,45,18:-,NM_001171631.1(NOSTRIN) c.1351-126_1351-125insA:-,NOT_FOUND:-,NOT_FOUND 2 169717420 . G . . NT END=169718469;NT GT ./. 2 169717541 rs2632372 T C 60 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.3339,C/0.6661;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1465+122T>C;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1294+122T>C;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1210+122T>C;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1060+122T>C;VC=Intron;DM=NOSTRIN/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:0:0:0:18:517:60.27:0.00:60.27:1.00:0.00:1.00:60:41.7:0:0:94:56:36:NM_001171631.1(NOSTRIN) c.1465+122T>C,NM_001171631.1(NOSTRIN) c.1465+122T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 169717624 rs2685800 C T 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.09285,T/0.9071;PC=0.013;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1465+205C>T;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1294+205C>T;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1210+205C>T;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1060+205C>T;VC=Intron;DM=NOSTRIN/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:289:33.19:0.00:33.19:1.00:0.00:1.00:60:50.3:0:0:91:60:22:NM_001171631.1(NOSTRIN) c.1465+205C>T,NM_001171631.1(NOSTRIN) c.1465+205C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 169718560 . G . . NT END=169719890;NT GT ./. 2 169719703 rs539400 C G 36 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1611,G/0.8389;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1555+1144C>G;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1384+1144C>G;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1300+1144C>G;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1150+1144C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:309:36.03:36.03:0.00:1.00:1.00:0.00:60:66.0:0:0:27:123:16:NM_001171631.1(NOSTRIN) c.1555+1144C>G,NM_001171631.1(NOSTRIN) c.1555+1144C>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 169719806 rs533492 A G 172 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.08706,G/0.9129;PC=0.004;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1555+1247A>G;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1384+1247A>G;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1300+1247A>G;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1150+1247A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:G,T:46:45:0:0:45,1:1507,13:171.64,0.35:156.57,0.35:15.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.4,134.0:0,0:0,0:55,1:95,132:30,0:NM_001171631.1(NOSTRIN) c.1555+1247A>G,NM_001171631.1(NOSTRIN) c.1555+1247A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 169719873 rs534310 T C 269 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.155,C/0.845;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1555+1314T>C;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1384+1314T>C;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1300+1314T>C;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1150+1314T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:66:0:0:70:2359:269.24:217.39:51.85:1.00:1.00:1.00:60:76.4:0:0:62:83:36:NM_001171631.1(NOSTRIN) c.1555+1314T>C,NM_001171631.1(NOSTRIN) c.1555+1314T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 169719951 rs2685801 T G 385 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.1605,G/0.8395;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1555+1392T>G;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1384+1392T>G;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1300+1392T>G;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1150+1392T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:67:0:0:98:3380:384.74:207.24:177.50:1.00:1.00:1.00:60:54.1:0:0:63:86:33:NM_001171631.1(NOSTRIN) c.1555+1392T>G,NM_001171631.1(NOSTRIN) c.1555+1392T>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 169720178 . C . . NT END=169721343;NT GT ./. 2 169720179 rs562790102 TGTGA T 214 nt VT=DEL;SST=Single;DP=67;DB;DBA=NA;PAF=NA;NP=746;PC=0.010;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1556-1158_1556-1155delGAGT;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1385-1158_1385-1155delGAGT;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1301-1158_1301-1155delGAGT;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1151-1158_1151-1155delGAGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TGTGA,T:67:26:0:61:7,60:179,1948:0.00,213.75:0.00,52.92:0.00,160.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.3,28.5:0,0:0,0:146,94:4,56:1,25:-,NM_001171631.1(NOSTRIN) c.1556-1164_1556-1161delGTGA:-,0.88:-,NOT_FOUND 2 169720215 rs534771 G T 187 nt VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.1629,T/0.8371;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1556-1129G>T;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1385-1129G>T;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1301-1129G>T;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1151-1129G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:T:51:14:0:0:51:1631:187.41:33.24:154.17:1.00:1.00:1.00:60:38.9:0:0:97:50:29:NM_001171631.1(NOSTRIN) c.1556-1129G>T,NM_001171631.1(NOSTRIN) c.1556-1129G>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 169721040 rs506362 C A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6214,A/0.3786;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1556-304C>A;VC=Intron;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1385-304C>A;VC=Intron;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1301-304C>A;VC=Intron;Gene=NOSTRIN/NM_052946.3/0;CC=c.1151-304C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,C:5:5:0:0:4,1:114,12:12.23,0.00:12.23,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:43.0,76.0:0,0:0,0:49,110:101,41:30,0:NM_001171631.1(NOSTRIN) c.1556-304C>A,-:0.34,-:NOT_FOUND,- 2 169721377 rs479661 G A 256 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.09285,A/0.9071;PC=1.000;Gene=NOSTRIN/NM_001171631.1/1;CC=c.1589G>A;ProtCh=p.G530E;VC=Missense;Gene=NOSTRIN/NM_001039724.3/0;CC=c.1418G>A;ProtCh=p.G473E;VC=Missense;Gene=NOSTRIN/NM_001171632.1/0;CC=c.1334G>A;ProtCh=p.G445E;VC=Missense;Gene=NOSTRIN/NM_052946.3/0;CC=c.1184G>A;ProtCh=p.G395E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:51:0:0:70:2228:256.05:144.12:111.94:1.00:1.00:1.00:60:39.7:0:0:70:81:36:NM_001171631.1(NOSTRIN) c.1589G>A (p.Gly530Glu),NM_001171631.1(NOSTRIN) c.1589G>A (p.Gly530Glu):0.89,0.89:0.866756,0.866756 2 169721481 . A . . NT END=169727940;NT GT ./. 2 169727730 rs6734923 G C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6118,C/0.3882;PC=0.003;Gene=SPC25/NM_020675.3/1;CC=c.*211C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:C,G:5:5:0:0:3,2:81,38:8.04,0.00:8.04,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,52:31.3,70.5:0,0:0,0:98,14:53,135:21,3:NM_020675.3(SPC25) c.*211C>G,-:0.37,-:NOT_FOUND,- 2 169727879 rs61598834 G GA 149 rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.08706,GA/0.9129;DB;DBA=NA;PAF=G/0.08706,GA/0.9129;NP=2919;Gene=SPC25/NM_020675.3/1;CC=c.*61dupT;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G,GA:43:41:41:0:2,41:53,1325:0.00,148.56:0.00,128.97:0.00,19.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.5,3.0:0,0:0,0:145,30:4,118:0,16:NM_020675.3(SPC25) c.*61dupT,NM_020675.3(SPC25) c.*61dupT:0.87,0.87:NOT_FOUND,NOT_FOUND 2 169728066 . C . . NT END=169730094;NT GT ./. 2 169728069 rs5836210 GAAA G 172 idl,nt VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=227;PC=0.068;Gene=SPC25/NM_020675.3/1;CC=c.551-7_551-5delTTT;VC=Intron;DM=SPC25/Spindle_Spc25;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAAA,G:66:36:0:62:13,53:410,1830:0.00,172.29:0.00,60.52:0.00,111.77:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.2,18.4:0,7:0,0:132,94:12,54:9,28:-,NM_020675.3(SPC25) c.551-7_551-5delTTT:-,NOT_FOUND:-,NOT_FOUND 2 169730194 . C . . NT END=169732581;NT GT ./. 2 169732687 . C . . NT END=169733747;NT GT ./. 2 169733895 . C . . NT END=169745735;NT GT ./. 2 169745592 . CAT C 13 nt VT=DEL;SST=Single;DP=7;NP=270;Gene=SPC25/NM_020675.3/1;CC=c.199+142_199+143delAT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:CAT,C:7:7:0:4:3,4:94,131:0.00,12.93:0.00,12.93:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:43.0,0.0:0,0:0,0:4,34:139,117:3,3:-,NM_020675.3(SPC25) c.199+142_199+143delAT:-,0.39:-,NOT_FOUND 2 169745802 . C . . NT END=169745896;NT GT ./. 2 169746044 . C . . NT END=169746827;NT GT ./. 2 169746945 . C . . NT END=169747038;NT GT ./. 2 169747250 . C . . NT END=169757841;NT GT ./. 2 169758060 . G . . NT END=169758954;NT GT ./. 2 169758247 rs34174689 GT G 12 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=3;Gene=G6PC2/NM_001081686.1/0;CC=c.218+204delT;VC=Intron;Gene=G6PC2/NM_021176.2/1;CC=c.218+204delT;VC=Intron;DM=G6PC2/PAP2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:GT,T,G:8:0:0:4:3,1,4:102,32,118:0.00,2.60,11.60:0.00,0.00,0.00:0.00,2.60,11.60:0.00,0.00,0.87:0.00,0.00,0.00:0.00,0.00,0.87:60,60,60:36.3,108.0,35.8:0,0,0:0,0,0:95,81,93:55,69,47:14,0,10:-,NM_021176.2(G6PC2) c.218+189delT:-,NOT_FOUND:-,NOT_FOUND 2 169759065 . G . . NT END=169761014;NT GT ./. 2 169761127 . G . . NT END=169763173;NT GT ./. 2 169763148 rs560887 T C 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.113,C/0.887;Gene=G6PC2/NM_001081686.1/0;CC=c.441-930T>C;VC=Intron;Gene=G6PC2/NM_021176.2/1;CC=c.441-26T>C;VC=Intron;DM=G6PC2/PAP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:22:0:0:24:793:90.74:60.23:30.52:1.00:1.00:1.00:60:34.4:0:0:57:92:32:NM_021176.2(G6PC2) c.441-26T>C,NM_021176.2(G6PC2) c.441-26T>C:0.85,0.85:0.792173,0.792173 2 169763290 . G . . NT END=169764077;NT GT ./. 2 169764176 rs492594 G C 159 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.5365,C/0.4635;PC=0.972;Gene=G6PC2/NM_001081686.1/0;CC=c.*74G>C;VC=3UTR;Gene=G6PC2/NM_021176.2/1;CC=c.655G>C;ProtCh=p.V219L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:89:69:0:0:49,40:1618,1239:158.63,0.00:90.68,0.00:67.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,15.2:0,0:0,0:64,64:87,86:40,41:NM_021176.2(G6PC2) c.655G>C (p.Val219Leu),-:0.44,-:0.410503,- 2 169764590 . A . . NT END=169780131;NT GT ./. 2 169764811 . C T 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;Gene=G6PC2/NM_001081686.1/0;CC=c.*709C>T;VC=3UTR;Gene=G6PC2/NM_021176.2/1;CC=c.*222C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:7:0:0:0:2,5:63,171:0.00,17.67:0.00,0.00:0.00,17.67:0.00,0.98:0.00,0.00:0.00,0.98:60,60:0.0,36.6:0,0:0,0:120,111:29,40:11,7:-,NM_021176.2(G6PC2) c.*222C>T:-,NOT_FOUND:-,NOT_FOUND 2 169780333 . C . . NT END=169781166;NT GT ./. 2 169780366 rs579275 T C 234 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.5026,A/.,C/0.4974;Gene=ABCB11/NM_003742.2/1;CC=c.3766-34A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:27:0:0:67:2024:233.94:74.36:159.58:1.00:1.00:1.00:60:37.8:0:0:105:46:27:NM_003742.2(ABCB11) c.3766-34A>G,NM_003742.2(ABCB11) c.3766-34A>G:0.48,0.48:0.454784,0.454784 2 169780961 rs519035 T C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4968,C/0.5032;Gene=ABCB11/NM_003742.2/1;CC=c.3765+206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:164:18.78:18.78:0.00:1.00:1.00:0.00:60:45.8:0:0:36:112:30:NM_003742.2(ABCB11) c.3765+206A>G,NM_003742.2(ABCB11) c.3765+206A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 169781314 . C . . NT END=169783665;NT GT ./. 2 169783565 rs7561903 T G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8357,G/0.1643;PC=0.352;Gene=ABCB11/NM_003742.2/1;CC=c.3618+101A>C;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:16:15:0:0:9,7:290,207:28.50,0.00:24.77,0.00:3.73,0.00:1.00,0.00:1.00,0.00:0.71,0.00:60,60:34.8,10.6:0,0:0,0:33,29:113,121:24,4:NM_003742.2(ABCB11) c.3618+101A>C,-:0.18,-:NOT_FOUND,- 2 169783873 . C . . NT END=169787174;NT GT ./. 2 169787373 . C . . NT END=169788886;NT GT ./. 2 169789016 rs497692 T C 284 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.5032,C/0.4968;Gene=ABCB11/NM_003742.2/1;CC=c.3084A>G;ProtCh=p.A1028=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:79:48:0:0:79:2464:283.69:132.05:151.64:1.00:1.00:1.00:60:37.2:0:0:82:68:34:NM_003742.2(ABCB11) c.3084A>G (p.(=)),NM_003742.2(ABCB11) c.3084A>G (p.(=)):0.48,0.48:0.454604,0.454604 2 169789044 . C . . NT END=169791693;NT GT ./. 2 169789306 rs494874 T C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1689,C/0.8311;Gene=ABCB11/NM_003742.2/1;CC=c.3057-263A>G;VC=Intron;DM=ABCB11/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:176:20.46:0.00:20.46:1.00:0.00:1.00:60:56.7:0:0:114:37:9:NM_003742.2(ABCB11) c.3057-263A>G,NM_003742.2(ABCB11) c.3057-263A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 2 169791438 rs552976 A G 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2524,G/0.7476;Gene=ABCB11/NM_003742.2/1;CC=c.3056+256T>C;VC=Intron;DM=ABCB11/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:97:11.44:11.44:0.00:1.00:1.00:0.00:60:57.0:0:0:90:60:14:NM_003742.2(ABCB11) c.3056+256T>C,NM_003742.2(ABCB11) c.3056+256T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 169791936 . C . . NT END=169792739;NT GT ./. 2 169792944 . C . . NT END=169801114;NT GT ./. 2 169801277 . C . . NT END=169801366;NT GT ./. 2 169801472 . C . . NT END=169814473;NT GT ./. 2 169801488 rs853789 A G 140 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.1448,G/0.8552;PC=0.003;Gene=ABCB11/NM_003742.2/1;CC=c.2344-17T>C;VC=Intron;DM=ABCB11/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:9:0:0:37:1228:140.38:20.34:120.05:1.00:1.00:1.00:60:44.5:0:0:110:37:23:NM_003742.2(ABCB11) c.2344-17T>C,NM_003742.2(ABCB11) c.2344-17T>C:0.82,0.82:0.752349,0.752349 2 169801628 rs860510 A C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4944,C/0.5056;PC=0.005;Gene=ABCB11/NM_003742.2/1;CC=c.2344-157T>G;VC=Intron;DM=ABCB11/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:219:25.24:0.00:25.24:1.00:0.00:1.00:60:54.9:0:0:140:11:9:NM_003742.2(ABCB11) c.2344-157T>G,NM_003742.2(ABCB11) c.2344-157T>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 169814347 rs853773 A G 85 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.4042,G/0.5958,T/.;Gene=ABCB11/NM_003742.2/1;CC=c.2343+127T>C;VC=Intron;DM=ABCB11/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:24:0:0:24:735:84.94:84.94:0.00:1.00:1.00:0.00:60:39.3:0:0:67:83:33:NM_003742.2(ABCB11) c.2343+127T>C,NM_003742.2(ABCB11) c.2343+127T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 2 169814639 . C . . NT END=169820715;NT GT ./. 2 169814655 rs853772 G T 221 nt VT=SNV;PN=G;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.5024,T/0.4976;PC=0.001;Gene=ABCB11/NM_003742.2/1;CC=c.2179-17C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:G,T:63:18:0:0:2,61:22,1954:0.00,221.13:0.00,37.99:0.00,183.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,38.3:0,0:0,0:103,97:47,54:46,30:NM_003742.2(ABCB11) c.2179-17C>A,NM_003742.2(ABCB11) c.2179-17C>A:0.48,0.48:0.450568,0.450568 2 169820819 . C . . NT END=169824936;NT GT ./. 2 169824739 rs4148789 T TA 18 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4413,TA/0.5587;NP=553;Gene=ABCB11/NM_003742.2/1;CC=c.2075+197dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:TA:5:5:5:0:5:155:17.88:17.88:0.00:1.00:1.00:0.00:60:68.4:0:0:12:139:4:NM_003742.2(ABCB11) c.2075+197_2075+198insT,NM_003742.2(ABCB11) c.2075+197_2075+198insT:0.56,0.56:NOT_FOUND,NOT_FOUND 2 169824743 rs34130824 C A 23 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4413,A/0.5587;DB;DBA=NA;PAF=NA;NP=1;NP=17;Gene=ABCB11/NM_003742.2/1;CC=c.2075+194G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:198:22.66:22.66:0.00:1.00:1.00:0.00:60:67.5:5:0:15:135:7:NM_003742.2(ABCB11) c.2075+194G>T,NM_003742.2(ABCB11) c.2075+194G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 169824749 rs2892809 C A 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4407,A/0.5593;Gene=ABCB11/NM_003742.2/1;CC=c.2075+188G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:228:26.14:26.14:0.00:1.00:1.00:0.00:60:62.3:0:0:20:131:11:NM_003742.2(ABCB11) c.2075+188G>T,NM_003742.2(ABCB11) c.2075+188G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 169825001 . C . . NT END=169825859;NT GT ./. 2 169825247 rs397873134 AT A 13 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AT/0.387,A/0.613;DB;DBA=NA;PAF=AT/0.387,A/0.613;NP=29;Gene=ABCB11/NM_003742.2/1;CC=c.2012-248delA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:4:4:115:13.40:0.00:13.40:1.00:0.00:1.00:60:0.0:0:0:77:74:61:NM_003742.2(ABCB11) c.2012-248delA,NM_003742.2(ABCB11) c.2012-248delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 169826062 . C . . NT END=169826554;NT GT ./. 2 169826867 . C . . NT END=169828356;NT GT ./. 2 169826877 rs2193831 C T 146 nt VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.4038,T/0.5962;Gene=ABCB11/NM_003742.2/1;CC=c.1639-152G>A;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A,T:40:12:0:0:1,39:11,1276:0.27,145.75:0.00,28.34:0.27,117.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,39.8:0,0:0,0:69,103:82,43:0,27:NM_003742.2(ABCB11) c.1639-152G>A,NM_003742.2(ABCB11) c.1639-152G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 169827018 rs4140386 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4038,T/0.5962;Gene=ABCB11/NM_003742.2/1;CC=c.1639-293G>A;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:195:22.79:0.00:22.79:1.00:0.00:1.00:60:81.1:0:0:115:35:23:NM_003742.2(ABCB11) c.1639-293G>A,NM_003742.2(ABCB11) c.1639-293G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 169827074 rs4140387 G T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4044,T/0.5956;Gene=ABCB11/NM_003742.2/1;CC=c.1639-349C>A;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:135:15.41:0.00:15.41:1.00:0.00:1.00:60:106.0:0:0:106:42:6:NM_003742.2(ABCB11) c.1639-349C>A,NM_003742.2(ABCB11) c.1639-349C>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 169828277 rs2241341 G A 137 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.404,A/0.596;PC=0.147;Gene=ABCB11/NM_003742.2/1;CC=c.1638+80C>T;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A:40:39:0:0:40:1176:136.53:134.99:1.54:1.00:1.00:1.00:60:69.6:0:0:43:106:30:NM_003742.2(ABCB11) c.1638+80C>T,NM_003742.2(ABCB11) c.1638+80C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 2 169828325 rs2241340 A G 219 nt VT=SNV;PN=T;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.4038,G/0.5962;Gene=ABCB11/NM_003742.2/1;CC=c.1638+32T>C;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:G,T:58:55:0:0:57,1:1919,8:218.62,0.10:187.67,0.10:30.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.1,169.0:0,0:0,0:52,54:99,96:34,0:NM_003742.2(ABCB11) c.1638+32T>C,NM_003742.2(ABCB11) c.1638+32T>C:0.6,0.6:0.594327,0.594327 2 169828561 . C . . NT END=169830224;NT GT ./. 2 169830051 rs2389605 C T 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.403,T/0.597;Gene=ABCB11/NM_003742.2/1;CC=c.1434+174G>A;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:362:41.45:41.45:0.00:1.00:1.00:0.00:60:51.9:0:0:74:76:20:NM_003742.2(ABCB11) c.1434+174G>A,NM_003742.2(ABCB11) c.1434+174G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 169830155 rs2287623 G A 135 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.403,A/0.597;Gene=ABCB11/NM_003742.2/1;CC=c.1434+70C>T;VC=Intron;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:32:0:0:38:1173:135.31:101.84:33.47:1.00:1.00:1.00:60:39.0:0:0:40:109:34:NM_003742.2(ABCB11) c.1434+70C>T,NM_003742.2(ABCB11) c.1434+70C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 2 169830328 rs2287622 A G 207 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.4113,C/.,G/0.5887,T/.;PC=0.929;Gene=ABCB11/NM_003742.2/1;CC=c.1331T>C;ProtCh=p.V444A;VC=Missense;DM=ABCB11/ABC_tran GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:A,G:58:28:0:0:1,57:10,1821:0.00,207.47:0.00,70.88:0.00,136.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,38.2:0,0:0,0:76,77:74,65:0,30:NM_003742.2(ABCB11) c.1331T>C (p.Val444Ala),NM_003742.2(ABCB11) c.1331T>C (p.Val444Ala):0.59,0.59:0.595775,0.595775 2 169830351 . C . . NT END=169833086;NT GT ./. 2 169830515 rs2287621 G A 69 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3131,A/0.6869;Gene=ABCB11/NM_003742.2/1;CC=c.1309-165C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:0:0:0:20:594:68.79:0.00:68.79:1.00:0.00:1.00:60:36.9:0:0:92:58:27:NM_003742.2(ABCB11) c.1309-165C>T,NM_003742.2(ABCB11) c.1309-165C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 169833198 . C . . NT END=169836375;NT GT ./. 2 169836490 . C . . NT END=169842619;NT GT ./. 2 169836698 rs2287620 T G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4567,G/0.5433;Gene=ABCB11/NM_003742.2/1;CC=c.1084-209A>C;VC=Intron;DM=ABCB11/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:181:20.93:0.00:20.93:1.00:0.00:1.00:60:70.8:0:0:118:32:16:NM_003742.2(ABCB11) c.1084-209A>C,NM_003742.2(ABCB11) c.1084-209A>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 169836707 rs3214428 AT A 11 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AT/0.4563,A/0.5437;NP=129;PC=0.013;Gene=ABCB11/NM_003742.2/1;CC=c.1084-219delA;VC=Intron;DM=ABCB11/ABC_membrane;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:AT,A:6:0:0:4:2,4:63,111:0.00,11.34:0.00,0.00:0.00,11.34:0.00,0.93:0.00,0.00:0.00,0.93:60,60:87.0,62.8:0,0:0,0:143,110:-2,40:0,17:-,NM_003742.2(ABCB11) c.1084-219delA:-,0.5:-,NOT_FOUND 2 169842795 . C . . NT END=169847310;NT GT ./. 2 169842809 rs2287618 T C 180 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.2258,C/0.7742;Gene=ABCB11/NM_003742.2/1;CC=c.909-15A>G;VC=Intron;DM=ABCB11/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C:49:27:0:0:49:1567:180.03:69.93:110.10:1.00:1.00:1.00:60:38.5:0:0:99:51:27:NM_003742.2(ABCB11) c.909-15A>G,NM_003742.2(ABCB11) c.909-15A>G:0.74,0.74:0.739566,0.739566 2 169847436 . C . . NT END=169850220;NT GT ./. 2 169850393 . C . . NT END=169851858;NT GT ./. 2 169851993 . C . . NT END=169853144;NT GT ./. 2 169853233 . C . . NT END=169869781;NT GT ./. 2 169870021 . C . . NT END=169870812;NT GT ./. 2 169870865 . C . . NT END=169873287;NT GT ./. 2 169873310 . C . . NT END=169874559;NT GT ./. 2 169874663 . C . . NT END=169923656;NT GT ./. 2 169923778 . G . . NT END=169925962;NT GT ./. 2 169926228 . G . . NT END=169926639;NT GT ./. 2 169927360 . g . . NT END=169929084;NT GT ./. 2 169929196 . G . . NT END=169930764;NT GT ./. 2 169930977 . G . . NT END=169937616;NT GT ./. 2 169937663 . G . . NT END=169938032;NT GT ./. 2 169938208 rs61995932 G A 104 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.994,A/0.00599;Gene=DHRS9/NM_001289763.1/0;CC=c.297G>A;ProtCh=p.S99=;VC=Silent;Gene=DHRS9/NM_199204.1/0;CC=c.117G>A;ProtCh=p.S39=;VC=Silent;Gene=DHRS9/NM_001142270.1/1;CC=c.117G>A;ProtCh=p.S39=;VC=Silent;Gene=DHRS9/NM_001142271.1/0;CC=c.117G>A;ProtCh=p.S39=;VC=Silent;DM=DHRS9/adh_short GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:84:61:0:0:34,48,2:1123,1427,26:104.37,0.00,0.24:53.74,0.00,0.10:50.64,0.00,0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.2,4.4,89.0:0,0,0:0,0,0:74,60,83:71,91,68:24,29,54:NM_005771.4(DHRS9) c.117G>A (p.(=)),-:0.01,-:0.014609,- 2 169938405 . G . . NT END=169939838;NT GT ./. 2 169940098 . G . . NT END=169948299;NT GT ./. 2 169948464 . G . . NT END=169952053;NT GT ./. 2 169952278 . C . . NT END=169985173;NT GT ./. 2 169985341 . C . . NT END=169985522;NT GT ./. 2 169985595 . C . . NT END=169989083;NT GT ./. 2 169989192 . C . . NT END=169993901;NT GT ./. 2 169994004 . C . . NT END=169995086;NT GT ./. 2 169995217 . C . . NT END=169995760;NT GT ./. 2 169995882 . C . . NT END=169996052;NT GT ./. 2 169996121 . C . . NT END=169996964;NT GT ./. 2 169997056 . C . . NT END=169999183;NT GT ./. 2 169999304 . C . . NT END=170002256;NT GT ./. 2 169999423 rs77168531 G A 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9958,A/0.004193;NP=66;Gene=LRP2/NM_004525.2/1;CC=c.12989-120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:5:0:0:22,14:697,448:69.75,0.00:4.98,0.00:64.77,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:34.3,19.2:0,0:0,0:111,86:38,64:32,38:NM_004525.2(LRP2) c.12989-120C>T,-:0.01,-:NOT_FOUND,- 2 170002434 . C . . NT END=170003248;NT GT ./. 2 170003432 rs4667591 T G 123 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=in-clinvar;PAF=T/0.4441,G/0.5559;PC=1.000;Gene=LRP2/NM_004525.2/1;CC=c.12628A>C;ProtCh=p.I4210L;VC=Missense;DM=LRP2/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:68:28:0:0:37,31:1254,1001:122.70,0.00:41.38,0.00:81.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,5.5:0,0:0,0:96,105:48,44:27,35:NM_004525.2(LRP2) c.12628A>C (p.Ile4210Leu),-:0.54,-:0.60449,- 2 170003470 . C . . NT END=170007407;NT GT ./. 2 170007537 . C . . NT END=170009308;NT GT ./. 2 170009475 . C . . NT END=170010969;NT GT ./. 2 170011114 . C . . NT END=170012783;NT GT ./. 2 170012916 . C . . NT END=170013880;NT GT ./. 2 170014013 . C . . NT END=170018981;NT GT ./. 2 170014571 rs71397692 T TACAC 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=3;NP=33;NP=85;Gene=LRP2/NM_004525.2/1;CC=c.11888-560_11888-559insGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TACAC:4:5:4:0:1,3:35,135:0.00,10.47:0.00,8.84:0.00,1.63:0.00,0.78:0.00,0.78:0.00,0.87:58,60:28.0,8.0:0,1:0,0:32,82:43,68:0,18:-,NM_004525.2(LRP2) c.11888-560_11888-559insGTGT:-,NOT_FOUND:-,NOT_FOUND 2 170019111 . C . . NT END=170022441;NT GT ./. 2 170022565 . C . . NT END=170025048;NT GT ./. 2 170025187 . C . . NT END=170026211;NT GT ./. 2 170025198 rs143342962 GA G 130 rn VT=DEL;SST=Single;DP=97;DB;DBA=NA;PAF=GA/0.9541,G/0.04593;NP=585;PC=0.087;Gene=LRP2/NM_004525.2/1;CC=c.11498-13delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,T,G:97:40:0:44:52,1,44:1697,13,1380:0.00,-0.03,130.24:0.00,0.13,31.05:0.00,-0.16,99.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.8,26.0,6.0:0,0,0:0,0,0:101,42,78:48,106,67:33,0,27:-,NM_004525.2(LRP2) c.11498-13delT:-,0.05:-,0.079872 2 170025340 rs2239602 C T 58 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.103,T/0.897;PC=0.020;Gene=LRP2/NM_004525.2/1;CC=c.11498-154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:0:0:0:15:505:57.65:0.00:57.65:1.00:0.00:1.00:60:39.5:0:0:102:48:28:NM_004525.2(LRP2) c.11498-154G>A,NM_004525.2(LRP2) c.11498-154G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 170026329 . C . . NT END=170027060;NT GT ./. 2 170027178 . C . . NT END=170028524;NT GT ./. 2 170028645 . C . . NT END=170029605;NT GT ./. 2 170029735 . C . . NT END=170030428;NT GT ./. 2 170030675 . C . . NT END=170031702;NT GT ./. 2 170031900 . C . . NT END=170032920;NT GT ./. 2 170033099 . C . . NT END=170034312;NT GT ./. 2 170034537 . C . . NT END=170037957;NT GT ./. 2 170038129 . C . . NT END=170038676;NT GT ./. 2 170038830 . C . . NT END=170039014;NT GT ./. 2 170039147 . C . . NT END=170042012;NT GT ./. 2 170042530 . C . . NT END=170044479;NT GT ./. 2 170044776 . C . . NT END=170048341;NT GT ./. 2 170048262 rs544109441 C T 42 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=LRP2/NM_004525.2/1;CC=c.9032+80G>A;VC=Intron;DM=LRP2/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:24:0:0:12,13:403,434:0.00,42.08:0.00,36.86:0.00,5.22:0.00,1.00:0.00,1.00:0.00,0.95:60,60:5.7,43.5:0,0:0,0:34,32:116,119:18,16:-,NM_004525.2(LRP2) c.9032+80G>A:-,NOT_FOUND:-,NOT_FOUND 2 170048544 . C . . NT END=170050270;NT GT ./. 2 170050403 . C . . NT END=170053420;NT GT ./. 2 170050472 rs2075248 T C 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.476,C/0.524;Gene=LRP2/NM_004525.2/1;CC=c.8699-70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:10:0:0:21,20:676,660:65.26,0.00:11.66,0.00:53.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,3.9:0,0:0,0:95,89:54,60:40,33:NM_004525.2(LRP2) c.8699-70A>G,-:0.52,-:NOT_FOUND,- 2 170053541 . C . . NT END=170055295;NT GT ./. 2 170053770 . CA C 17 rn VT=DEL;SST=Single;DP=12;NP=2;Gene=LRP2/NM_004525.2/1;CC=c.8579-231delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:CA,C:12:0:0:6:6,6:171,176:0.00,16.86:0.00,0.00:0.00,16.86:0.00,0.98:0.00,0.00:0.00,0.98:60,70:43.0,13.3:0,0:0,0:111,89:40,60:29,31:-,NM_004525.2(LRP2) c.8579-231delT:-,NOT_FOUND:-,NOT_FOUND 2 170055422 . C . . NT END=170058137;NT GT ./. 2 170058381 . C . . NT END=170059265;NT GT ./. 2 170058497 rs16856600 G A 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.6989,A/0.3011;PC=1.000;Gene=LRP2/NM_004525.2/1;CC=c.8210-117C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:8:0:0:19,23:563,767:52.80,0.00:8.24,0.00:44.56,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:45.7,8.3:0,0:0,0:124,108:26,43:12,27:NM_004525.2(LRP2) c.8210-117C>T,-:0.35,-:NOT_FOUND,- 2 170059470 . C . . NT END=170060491;NT GT ./. 2 170060782 . C . . NT END=170061988;NT GT ./. 2 170061814 rs62172611 T G 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.9619,G/0.03814;Gene=LRP2/NM_004525.2/1;CC=c.7715+175A>C;VC=Intron;DM=LRP2/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:19:0:0:9,10:321,290:30.70,0.00:30.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.1,5.5:0,0:0,0:83,13:68,138:17,9:NM_004525.2(LRP2) c.7715+175A>C,-:0.02,-:NOT_FOUND,- 2 170062078 rs13397109 G C 161 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=107;DB;DBA=in-clinvar;PAF=G/0.8636,A/.,C/0.1364;PC=0.024;Gene=LRP2/NM_004525.2/1;CC=c.7626C>G;ProtCh=p.R2542=;VC=Silent;DM=LRP2/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:107:67:0:0:53,54:1682,1761:161.24,0.00:74.26,0.00:86.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,8.4:0,0:0,0:88,72:62,76:36,37:NM_004525.2(LRP2) c.7626C>G (p.(=)),-:0.1,-:0.137706,- 2 170062148 . C . . NT END=170062532;NT GT ./. 2 170062201 rs113353000 TA T 15 idl,rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=69;Gene=LRP2/NM_004525.2/1;CC=c.7557-55delT;VC=Intron;DM=LRP2/Ldl_recept_b;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,TA,I,T:56:18:2:9:1,45,2,8:34,1239,66,239:1.78,0.00,3.96,14.98:-0.10,0.00,2.22,1.18:1.89,0.00,1.73,13.80:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.99:60,60,60,60:85.0,26.8,15.0,48.0:1,1,0,1:0,0,0,0:61,115,126,109:90,29,24,42:0,20,1,20:-,NM_004525.2(LRP2) c.7557-55delT:-,NOT_FOUND:-,NOT_FOUND 2 170062699 . C . . NT END=170062839;NT GT ./. 2 170063761 . C . . NT END=170065962;NT GT ./. 2 170063783 rs13417389 T C 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.7212,C/0.2788;Gene=LRP2/NM_004525.2/1;CC=c.6470-23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:22:0:0:26,30:768,916:72.33,0.00:25.50,0.00:46.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,15.1:0,0:0,0:98,97:46,46:19,29:NM_004525.2(LRP2) c.6470-23A>G,-:0.26,-:0.236344,- 2 170066152 . C . . NT END=170068477;NT GT ./. 2 170066376 rs62172612 G C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9303,C/0.06969;PC=0.002;Gene=LRP2/NM_004525.2/1;CC=c.6281-225C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,G:11:0:0:0:5,6:141,194:13.17,0.00:0.00,0.00:13.17,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:56.6,17.3:0,0:0,0:101,119:49,31:28,8:NM_004525.2(LRP2) c.6281-225C>G,-:0.05,-:NOT_FOUND,- 2 170068164 rs62172628 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9633,T/0.03674;Gene=LRP2/NM_004525.2/1;CC=c.6280+314G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:6:6:0:0:3,3:108,93:0.00,8.92:0.00,8.92:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:11.0,33.7:0,0:0,0:63,83:88,68:22,1:-,NM_004525.2(LRP2) c.6280+314G>A:-,0.02:-,NOT_FOUND 2 170068718 . C . . NT END=170070166;NT GT ./. 2 170069913 rs75898768 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9633,A/0.03674;Gene=LRP2/NM_004525.2/1;CC=c.6040+254C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G:4:4:0:0:3,1:95,11:9.99,0.00:9.99,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:118.7,135.0:0,0:0,0:78,13:73,127:21,0:NM_004525.2(LRP2) c.6040+254C>T,-:0.02,-:NOT_FOUND,- 2 170069969 rs78411016 C T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9816,T/0.01837;Gene=LRP2/NM_004525.2/1;CC=c.6040+198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,C,T:5:5:0:0:1,1,3:10,35,90:0.70,0.00,9.37:0.70,0.00,9.37:0.00,0.00,0.00:0.00,0.00,0.78:0.00,0.00,0.78:0.00,0.00,0.00:60,60,60:135.0,0.0,89.3:0,0,0:0,0,0:69,29,113:71,122,38:0,0,21:-,NM_004525.2(LRP2) c.6040+198G>A:-,0.02:-,NOT_FOUND 2 170069995 rs62172629 G A 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9633,A/0.03674;Gene=LRP2/NM_004525.2/1;CC=c.6040+172C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:6:6:0:0:3,3:79,84:7.51,0.00:7.51,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:69.0,45.0:0,0:0,0:46,55:105,96:27,30:NM_004525.2(LRP2) c.6040+172C>T,-:0.02,-:NOT_FOUND,- 2 170070381 . C . . NT END=170072762;NT GT ./. 2 170070539 rs2302695 G C 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3884,C/0.6116;Gene=LRP2/NM_004525.2/1;CC=c.5827-159C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:289:33.19:0.00:33.19:1.00:0.00:1.00:60:62.3:0:0:62:88:38:NM_004525.2(LRP2) c.5827-159C>G,NM_004525.2(LRP2) c.5827-159C>G:0.54,0.54:NOT_FOUND,NOT_FOUND 2 170070597 rs75092581 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8938,A/0.1062;Gene=LRP2/NM_004525.2/1;CC=c.5827-217C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:7:0:0:0:3,4:105,129:9.86,0.00:0.00,0.00:9.86,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:120.0,55.5:0,0:0,0:89,94:62,56:31,21:NM_004525.2(LRP2) c.5827-217C>T,-:0.08,-:NOT_FOUND,- 2 170070635 rs62172630 G A 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9629,A/0.03714;Gene=LRP2/NM_004525.2/1;CC=c.5827-255C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:6:0:0:0:2,4:71,110:6.40,0.00:0.00,0.00:6.40,0.00:0.42,0.00:0.00,0.00:0.42,0.00:60,60:144.5,95.0:0,0:0,0:108,110:43,40:19,22:NM_004525.2(LRP2) c.5827-255C>T,-:0.02,-:NOT_FOUND,- 2 170070656 rs17848164 C T 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5491,T/0.4509;Gene=LRP2/NM_004525.2/1;CC=c.5827-276G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:157:18.08:0.00:18.08:1.00:0.00:1.00:60:121.8:0:0:122:29:19:NM_004525.2(LRP2) c.5827-276G>A,NM_004525.2(LRP2) c.5827-276G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 2 170072515 rs11886318 A C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.389,C/0.611;PC=0.035;Gene=LRP2/NM_004525.2/1;CC=c.5826+248T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,G:6:6:0:0:5,1:145,10:16.46,0.73:16.46,0.73:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:31.0,166.0:0,0:0,0:29,47:122,103:10,0:NM_004525.2(LRP2) c.5826+248T>G,NM_004525.2(LRP2) c.5826+248T>G:0.54,0.54:NOT_FOUND,NOT_FOUND 2 170072941 . C . . NT END=170076963;NT GT ./. 2 170077074 . C . . NT END=170081819;NT GT ./. 2 170077165 rs3815572 C T 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5994,T/0.4006;PC=0.005;Gene=LRP2/NM_004525.2/1;CC=c.5539-92G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T:14:0:0:0:6,8:187,246:0.00,24.26:0.00,0.00:0.00,24.26:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.7,40.9:0,0:0,0:97,103:52,46:37,12:-,NM_004525.2(LRP2) c.5539-92G>A:-,0.36:-,NOT_FOUND 2 170081606 rs34951037 A T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.4277,T/0.5723;PC=0.001;Gene=LRP2/NM_004525.2/1;CC=c.5538+214T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,T:9:9:0:0:5,4:158,112:0.00,10.40:0.00,10.40:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:2.6,31.0:0,0:0,0:16,85:134,65:7,52:-,NM_004525.2(LRP2) c.5538+214T>A:-,0.49:-,NOT_FOUND 2 170081964 . C . . NT END=170082931;NT GT ./. 2 170082013 rs2075246 A G 102 nt VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.4285,G/0.5715;Gene=LRP2/NM_004525.2/1;CC=c.5395-50T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:25:0:0:24,30:731,1034:0.00,101.60:0.00,34.42:0.00,67.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,44.4:0,0:0,0:96,95:54,49:36,30:-,NM_004525.2(LRP2) c.5395-50T>C:-,0.51:-,0.519914 2 170083099 . C . . NT END=170088223;NT GT ./. 2 170088046 rs4668128 G A 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4006,A/0.5994;Gene=LRP2/NM_004525.2/1;CC=c.5227+178C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:15:15:0:0:11,4:335,124:34.96,0.00:34.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.7,2.8:0,0:0,0:43,22:107,128:9,18:NM_004525.2(LRP2) c.5227+178C>T,-:0.55,-:NOT_FOUND,- 2 170088353 . C . . NT END=170089920;NT GT ./. 2 170088477 rs2302693 T C 110 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3624,C/0.6376;Gene=LRP2/NM_004525.2/1;CC=c.5099-125A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:4:0:0:31:951:109.84:6.80:103.03:1.00:1.00:1.00:60:50.7:0:0:114:37:26:NM_004525.2(LRP2) c.5099-125A>G,NM_004525.2(LRP2) c.5099-125A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 2 170088506 rs2302692 T C 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5751,C/0.4249;PC=0.004;Gene=LRP2/NM_004525.2/1;CC=c.5099-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:0:0:0:12,11:323,355:31.00,0.00:0.00,0.00:31.00,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:78.4,32.1:0,0:0,0:69,126:81,25:20,23:NM_004525.2(LRP2) c.5099-154A>G,-:0.38,-:NOT_FOUND,- 2 170089667 rs2239597 A C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5573,C/0.4427;Gene=LRP2/NM_004525.2/1;CC=c.5098+254T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,C:6:6:0:0:1,5:24,170:0.00,18.21:0.00,18.21:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:10.0,41.8:0,0:0,0:46,20:105,131:0,8:-,NM_004525.2(LRP2) c.5098+254T>G:-,0.39:-,NOT_FOUND 2 170089824 rs2239596 T C 62 nt VT=SNV;PN=G;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.5371,C/0.4629;Gene=LRP2/NM_004525.2/1;CC=c.5098+97A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:27:0:0:18,12:618,337:61.67,0.00:53.03,0.00:8.64,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:60.7,13.6:0,0:0,0:18,30:132,119:13,23:NM_004525.2(LRP2) c.5098+97A>G,-:0.4,-:NOT_FOUND,- 2 170089851 rs2239595 G A 67 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.7981,A/0.2019;Gene=LRP2/NM_004525.2/1;CC=c.5098+70C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:36:0:0:22,18:687,572:67.23,0.00:56.09,0.00:11.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.0,9.7:0,0:0,0:32,36:119,111:13,20:NM_004525.2(LRP2) c.5098+70C>T,-:0.19,-:NOT_FOUND,- 2 170090099 . C . . NT END=170092349;NT GT ./. 2 170090331 rs2239594 C T 38 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3658,T/0.6342;Gene=LRP2/NM_004525.2/1;CC=c.4921-233G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:331:37.87:0.00:37.87:1.00:0.00:1.00:60:50.7:0:0:116:34:10:NM_004525.2(LRP2) c.4921-233G>A,NM_004525.2(LRP2) c.4921-233G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 2 170092395 rs2229267 A G 89 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=in-clinvar;PAF=A/0.5387,G/0.4613;PC=1.000;Gene=LRP2/NM_004525.2/1;CC=c.4875T>C;ProtCh=p.C1625=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:67:0:0:49,31:1615,976:0.00,89.17:0.00,61.35:0.00,27.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,33.3:0,0:0,0:57,41:90,100:32,28:-,NM_004525.2(LRP2) c.4875T>C (p.(=)):-,0.41:-,0.377979 2 170092579 . C . . NT END=170093612;NT GT ./. 2 170093798 . C . . NT END=170094600;NT GT ./. 2 170094813 . C . . NT END=170096036;NT GT ./. 2 170096018 rs830973 G A 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.5559,A/0.4441;PC=0.006;Gene=LRP2/NM_004525.2/1;CC=c.4294+19C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:62:0:0:35,46:1175,1334:110.25,0.00:69.63,0.00:40.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,3.6:0,0:0,0:53,68:98,80:25,34:NM_004525.2(LRP2) c.4294+19C>T,-:0.38,-:0.341688,- 2 170096286 . C . . NT END=170097497;NT GT ./. 2 170097876 . C . . NT END=170099465;NT GT ./. 2 170099291 rs831040 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4181,T/0.5819;Gene=LRP2/NM_004525.2/1;CC=c.3667+175G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:33.6:0:0:37:114:22:NM_004525.2(LRP2) c.3667+175G>A,NM_004525.2(LRP2) c.3667+175G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 2 170099446 rs831041 T G 125 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.3814,G/0.6186;Gene=LRP2/NM_004525.2/1;CC=c.3667+20A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:31:0:0:33:1090:124.67:97.28:27.39:1.00:1.00:1.00:60:72.0:0:0:40:108:27:NM_004525.2(LRP2) c.3667+20A>C,NM_004525.2(LRP2) c.3667+20A>C:0.54,0.54:0.535599,0.535599 2 170099473 rs831042 T C 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=in-clinvar;PAF=T/0.4181,C/0.5819;Gene=LRP2/NM_004525.2/1;CC=c.3660A>G;ProtCh=p.A1220=;VC=Silent;DM=LRP2/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C,G:40:36:0:0:39,1:1258,11:143.97,0.27:98.75,0.00:45.22,0.27:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.8,188.0:0,0:0,0:60,53:89,98:29,0:NM_004525.2(LRP2) c.3660A>G (p.(=)),NM_004525.2(LRP2) c.3660A>G (p.(=)):0.51,0.51:0.503229,0.503229 2 170099583 . C . . NT END=170099912;NT GT ./. 2 170099895 rs2075255 A C 274 nt VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.9788,C/0.02117,T/.;PC=0.004;Gene=LRP2/NM_004525.2/1;CC=c.3550+18T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:62:0:0:75:2388:274.35:189.04:85.32:1.00:1.00:1.00:60:67.7:0:0:43:100:31:NM_004525.2(LRP2) c.3550+18T>G,NM_004525.2(LRP2) c.3550+18T>G:0.56,0.56:0.552514,0.552514 2 170099899 rs2075254 G A 299 nt VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.3814,A/0.6186;PC=0.008;Gene=LRP2/NM_004525.2/1;CC=c.3550+14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:80:66:0:0:80:2612:299.23:196.47:102.76:1.00:1.00:1.00:60:66.1:0:0:39:103:26:NM_004525.2(LRP2) c.3550+14C>T,NM_004525.2(LRP2) c.3550+14C>T:0.54,0.54:0.534676,0.534676 2 170100033 . C . . NT END=170101202;NT GT ./. 2 170100271 rs41416647 G C 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9631,C/0.03694;PC=0.017;Gene=LRP2/NM_004525.2/1;CC=c.3431-239C>G;VC=Intron;DM=LRP2/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:17:0:0:0:9,8:316,255:30.80,0.00:0.00,0.00:30.80,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,70:44.2,7.0:0,0:0,0:117,95:33,56:18,37:NM_004525.2(LRP2) c.3431-239C>G,-:0.02,-:NOT_FOUND,- 2 170101443 . C . . NT END=170103214;NT GT ./. 2 170103336 rs831043 T C 578 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=164;DB;DBA=in-clinvar;PAF=T/0.3814,C/0.6186;Gene=LRP2/NM_004525.2/1;CC=c.3069A>G;ProtCh=p.T1023=;VC=Silent;DM=LRP2/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:164:121:0:0:1,162,1:10,5033,36:0.06,577.72,0.00:0.06,321.13,0.00:-0.00,256.59,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:51.0,53.3,0.0:0,0,0:0,0,0:72,67,69:79,81,70:0,37,0:NM_004525.2(LRP2) c.3069A>G (p.(=)),NM_004525.2(LRP2) c.3069A>G (p.(=)):0.54,0.54:0.535753,0.535753 2 170103351 rs2075249 G T 269 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=178;DB;DBA=in-clinvar;PAF=G/0.5435,T/0.4565;PC=0.196;Gene=LRP2/NM_004525.2/1;CC=c.3054C>A;ProtCh=p.T1018=;VC=Silent;DM=LRP2/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:178:128:0:0:1,1,89,87:11,5,2850,2804:-0.15,-0.22,0.00,268.88:-0.12,-0.12,0.00,149.52:-0.03,-0.10,0.00,119.36:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:81.0,54.0,37.1,64.0:0,0,0,0:0,0,0,0:87,103,62,54:59,48,87,93:0,0,38,33:-,NM_004525.2(LRP2) c.3054C>A (p.(=)):-,0.42:-,0.40243 2 170103497 . C . . NT END=170103887;NT GT ./. 2 170104026 . C . . NT END=170112615;NT GT ./. 2 170104295 rs831044 T A 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5142,A/0.4858;PC=0.001;Gene=LRP2/NM_004525.2/1;CC=c.2771-270A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,T:7:0:0:0:6,1:169,33:18.50,0.00:0.00,0.00:18.50,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.7,13.0:0,0:0,0:115,135:35,15:7,0:NM_004525.2(LRP2) c.2771-270A>T,-:0.41,-:NOT_FOUND,- 2 170112478 rs397751464 T TA 67 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.4139,TA/0.5861;DB;DBA=NA;PAF=T/0.4139,TA/0.5861;NP=805;Gene=LRP2/NM_004525.2/1;CC=c.2770+137dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:A,T,TA:21:21:19:1:1,1,19:32,11,597:2.34,0.00,67.02:2.34,0.00,67.02:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:32.0,42.0,7.3:0,0,0:0,0,0:0,145,30:151,2,121:0,0,24:NM_004525.2(LRP2) c.2770+137_2770+138insT,NM_004525.2(LRP2) c.2770+137_2770+138insT:0.51,0.51:NOT_FOUND,NOT_FOUND 2 170112747 . C . . NT END=170113633;NT GT ./. 2 170112918 rs62172656 C T 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.9631,T/0.03694;Gene=LRP2/NM_004525.2/1;CC=c.2640-172G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,T:21:0:0:0:8,13:195,440:0.00,44.34:0.00,0.00:0.00,44.34:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.9,43.8:0,0:0,0:108,121:42,30:12,23:-,NM_004525.2(LRP2) c.2640-172G>A:-,0.02:-,NOT_FOUND 2 170113034 rs830958 G T 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.04932,T/0.9507;Gene=LRP2/NM_004525.2/1;CC=c.2640-288C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:1:0:0:6:186:21.46:3.78:17.68:1.00:1.00:1.00:60:83.7:0:0:95:55:26:NM_004525.2(LRP2) c.2640-288C>A,NM_004525.2(LRP2) c.2640-288C>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 170113396 rs830960 C T 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3938,T/0.6062;Gene=LRP2/NM_004525.2/1;CC=c.2639+238G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:264:30.65:30.65:0.00:1.00:1.00:0.00:60:36.0:0:0:30:120:18:NM_004525.2(LRP2) c.2639+238G>A,NM_004525.2(LRP2) c.2639+238G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 2 170113760 . C . . NT END=170115534;NT GT ./. 2 170115588 rs2241190 T C 215 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=in-clinvar;PAF=T/0.3776,C/0.6224;PC=0.994;Gene=LRP2/NM_004525.2/1;CC=c.2460A>G;ProtCh=p.T820=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:A,C:63:46:0:0:1,62:11,1858:0.19,214.50:0.19,114.76:0.00,99.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:54.0,38.8:0,0:0,0:51,93:100,54:0,30:NM_004525.2(LRP2) c.2460A>G (p.(=)),NM_004525.2(LRP2) c.2460A>G (p.(=)):0.54,0.54:0.54275,0.54275 2 170115728 . C . . NT END=170127413;NT GT ./. 2 170115877 rs578036918 C T 9 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9964,T/0.003594;NP=8;PC=0.001;Gene=LRP2/NM_004525.2/1;CC=c.2321-150G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:8:0:0:0:5,3:136,94:0.00,8.54:0.00,0.00:0.00,8.54:0.00,0.67:0.00,0.00:0.00,0.67:60,60:104.2,49.0:0,0:0,0:121,140:30,10:15,0:-,NM_004525.2(LRP2) c.2321-150G>A:-,NOT_FOUND:-,NOT_FOUND 2 170127267 rs4000808 T TATAAATAA 16 idl,nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2572,TATAA/0.7428,TATAAATAA/.;DB;DBA=NA;PAF=T/0.2572,TATAA/0.7428,TATAAATAA/.,TATAAATAAATAA/.;NP=1;NP=10;NP=5;PC=0.204;Gene=LRP2/NM_004525.2/1;CC=c.2320+146_2320+147insTTATTTAT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,T,TATAAATAA:9:12:9:0:1,3,5:32,98,272:2.46,0.00,15.88:2.50,0.00,16.09:-0.03,0.00,-0.21:0.00,0.00,0.91:0.00,0.00,0.99:0.00,0.00,0.59:60,60,60:32.0,4.0,9.4:0,0,4:0,0,0:0,134,38:151,16,112:0,10,23:-,NM_004525.2(LRP2) c.2320+146_2320+147insTTATTTAT:-,NOT_FOUND:-,NOT_FOUND 2 170127380 rs145964808 TAC T 44 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=138;PC=0.005;Gene=LRP2/NM_004525.2/1;CC=c.2320+32_2320+33delGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAC,T:40:39:0:17:25,15:769,551:0.00,44.26:0.00,32.76:0.00,11.50:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.4,6.6:0,2:0,0:53,30:98,108:44,17:-,NM_004525.2(LRP2) c.2320+32_2320+33delGT:-,NOT_FOUND:-,NOT_FOUND 2 170127618 . C . . NT END=170128179;NT GT ./. 2 170128121 rs55672417 GCACACACACACACA G 55 idl,nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=267;PC=0.151;Gene=LRP2/NM_004525.2/1;CC=c.2117-518_2117-505delTGTGTGTGTGTGTG;VC=Intron;DM=LRP2/Ldl_recept_b;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GCACACACACACACA,G:17:19:0:20:1,16:36,619:0.00,55.11:0.00,47.07:0.00,8.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,9.7:0,4:0,0:137,59:14,91:0,16:NM_004525.2(LRP2) c.2117-518_2117-505delTGTGTGTGTGTGTG,NM_004525.2(LRP2) c.2117-518_2117-505delTGTGTGTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170128275 . T . . NT END=170129436;NT GT ./. 2 170128337 rs830992 A G 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1951,G/0.8049;Gene=LRP2/NM_004525.2/1;CC=c.2117-720T>C;VC=Intron;DM=LRP2/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:5:0:0:19:617:70.76:11.76:58.99:1.00:1.00:1.00:60:40.8:0:0:118:30:13:NM_004525.2(LRP2) c.2117-720T>C,NM_004525.2(LRP2) c.2117-720T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 170129528 rs830994 G A 142 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=G/0.3904,A/0.6096;PC=0.950;Gene=LRP2/NM_004525.2/1;CC=c.2025C>T;ProtCh=p.V675=;VC=Silent;DM=LRP2/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:96:61:0:0:47,47,2:1479,1507,22:141.97,0.00,0.03:57.95,0.00,0.28:84.02,0.00,-0.24:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.2,9.7,54.5:0,0,0:0,0,0:88,76,126:62,73,15:26,44,13:NM_004525.2(LRP2) c.2025C>T (p.(=)),-:0.66,-:0.615024,- 2 170129578 . C . . NT END=170131545;NT GT ./. 2 170129636 rs830995 A G 96 nt VT=SNV;PN=C;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.3257,G/0.6743;PC=0.013;Gene=LRP2/NM_004525.2/1;CC=c.1976-59T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:58:19:0:0:25,1,32:818,11,975:0.00,0.01,95.72:0.00,-0.06,20.62:0.00,0.07,75.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.2,91.0,55.7:0,0,0:0,0,0:115,140,87:27,11,60:22,0,26:-,NM_004525.2(LRP2) c.1976-59T>C:-,0.73:-,NOT_FOUND 2 170131749 . C . . NT END=170134254;NT GT ./. 2 170134191 rs831003 G C 125 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.2356,C/0.7644;Gene=LRP2/NM_004525.2/1;CC=c.1772+64C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:30:0:0:35:1087:125.30:104.52:20.77:1.00:1.00:1.00:60:40.7:0:0:26:124:20:NM_004525.2(LRP2) c.1772+64C>G,NM_004525.2(LRP2) c.1772+64C>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 170134462 . C . . NT END=170135881;NT GT ./. 2 170134605 rs77981563 G GT 13 rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;NP=2;Gene=LRP2/NM_004525.2/1;CC=c.1566-145dupA;VC=Intron;DM=LRP2/Ldl_recept_b;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:G,GT:25:0:6:0:20,5:627,191:0.00,12.65:0.00,0.00:0.00,12.65:0.00,0.82:0.00,0.00:0.00,0.82:60,60:17.0,18.0:0,1:0,0:129,83:21,66:18,26:-,NM_004525.2(LRP2) c.1566-145_1566-144insA:-,NOT_FOUND:-,NOT_FOUND 2 170135742 rs831004 C T 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4261,T/0.5739;Gene=LRP2/NM_004525.2/1;CC=c.1565+140G>A;VC=Intron;DM=LRP2/Ldl_recept_b GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:339:39.14:39.14:0.00:1.00:1.00:0.00:60:32.9:0:0:29:121:22:NM_004525.2(LRP2) c.1565+140G>A,NM_004525.2(LRP2) c.1565+140G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 2 170136106 . C . . NT END=170136859;NT GT ./. 2 170137030 . C . . NT END=170139382;NT GT ./. 2 170137190 rs831005 A G 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3542,G/0.6458;PC=0.001;Gene=LRP2/NM_004525.2/1;CC=c.1172-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:0:0:0:15:480:55.15:0.00:55.15:1.00:0.00:1.00:60:50.1:0:0:71:80:32:NM_004525.2(LRP2) c.1172-161T>C,NM_004525.2(LRP2) c.1172-161T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 2 170139180 rs831009 G A 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.2468,A/0.7532;Gene=LRP2/NM_004525.2/1;CC=c.1171+203C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:566:65.18:65.18:0.00:1.00:1.00:0.00:60:37.4:0:0:35:116:26:NM_004525.2(LRP2) c.1171+203C>T,NM_004525.2(LRP2) c.1171+203C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 2 170139346 rs831010 C T 215 nt VT=SNV;PN=T;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.1677,T/0.8323;Gene=LRP2/NM_004525.2/1;CC=c.1171+37G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:138:G,T:59:48:0:0:1,58:29,1882:1.62,215.42:1.62,137.79:0.00,77.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:59.0,36.6:0,0:0,0:13,50:137,99:0,28:NM_004525.2(LRP2) c.1171+37G>A,NM_004525.2(LRP2) c.1171+37G>A:0.86,0.86:0.82731,0.82731 2 170139512 . C . . NT END=170145535;NT GT ./. 2 170139639 rs831011 A G 113 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.2458,G/0.7542;Gene=LRP2/NM_004525.2/1;CC=c.1043-128T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:1:0:0:31:979:112.62:2.04:110.58:1.00:1.00:1.00:60:37.9:0:0:91:59:26:NM_004525.2(LRP2) c.1043-128T>C,NM_004525.2(LRP2) c.1043-128T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 170145426 rs831017 G A 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.5569,A/0.4431;Gene=LRP2/NM_004525.2/1;CC=c.1042+110C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:33:0:0:16,19:473,654:44.39,0.00:43.20,0.00:1.19,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:47.2,9.1:0,0:0,0:38,34:112,116:27,27:NM_004525.2(LRP2) c.1042+110C>T,-:0.44,-:NOT_FOUND,- 2 170145656 . C . . NT END=170147354;NT GT ./. 2 170147266 rs61219833 T C 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.9018,C/0.09824;Gene=LRP2/NM_004525.2/1;CC=c.922+89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:29:0:0:10,19:335,597:30.17,0.00:30.26,0.00:-0.09,0.00:1.00,0.00:1.00,0.00:0.56,0.00:60,60:35.8,9.1:0,0:0,0:50,47:101,104:19,27:NM_004525.2(LRP2) c.922+89A>G,-:0.07,-:NOT_FOUND,- 2 170147502 rs34693334 C G 54 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=in-clinvar;PAF=C/0.9597,G/0.04034,T/.;PC=0.062;Gene=LRP2/NM_004525.2/1;CC=c.775G>C;ProtCh=p.G259R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:53:24:0:0:1,32,19,1:14,954,592,12:0.11,0.00,53.63,-0.00:0.28,0.00,12.69,0.17:-0.17,0.00,40.94,-0.17:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:46.0,8.6,37.8,58.0:0,0,0,0:0,0,0,0:146,66,82,119:5,69,69,32:0,35,30,0:-,NM_004525.2(LRP2) c.775G>C (p.Gly259Arg):-,0.04:-,0.055359 2 170147508 . C . . NT END=170148762;NT GT ./. 2 170148745 rs62171262 A G 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.9611,G/0.03894;PC=0.026;Gene=LRP2/NM_004525.2/1;CC=c.769+18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:42:0:0:22,24:695,791:0.00,76.69:0.00,64.20:0.00,12.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,55.3:0,0:0,0:45,51:105,99:28,27:-,NM_004525.2(LRP2) c.769+18T>C:-,0.03:-,0.053744 2 170148880 . C . . NT END=170150657;NT GT ./. 2 170150772 . C . . NT END=170151109;NT GT ./. 2 170151221 . C . . NT END=170163790;NT GT ./. 2 170151227 . TAAA T 30 idl,rn VT=DEL;SST=Single;DP=26;PC=0.010;Gene=LRP2/NM_004525.2/1;CC=c.428-10_428-8delTTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:TAAA,T:15:12:0:23:5,10:145,617:0.00,30.06:0.00,9.31:0.00,20.75:0.00,1.00:0.00,0.99:0.00,1.00:60,60:1.4,51.2:0,11:0,0:149,83:2,62:1,14:-,NM_004525.2(LRP2) c.428-10_428-8delTTT:-,NOT_FOUND:-,NOT_FOUND 2 170151354 rs2673173 G A 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.01018,A/0.9898;Gene=LRP2/NM_004525.2/1;CC=c.428-134C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:326:37.37:0.00:37.37:1.00:0.00:1.00:60:40.4:0:0:85:65:49:NM_004525.2(LRP2) c.428-134C>T,NM_004525.2(LRP2) c.428-134C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 170151405 rs368408094 TAATC T 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TAATC/0.403,T/0.597;DB;DBA=NA;PAF=TAATC/0.403,T/0.597;NP=307;Gene=LRP2/NM_004525.2/1;CC=c.428-189_428-186delGATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:6:6:193:22.16:0.00:22.16:1.00:0.00:1.00:60:30.2:0:0:70:80:19:NM_004525.2(LRP2) c.428-189_428-186delGATT,NM_004525.2(LRP2) c.428-189_428-186delGATT:0.6,0.6:NOT_FOUND,NOT_FOUND 2 170163908 . C . . NT END=170175271;NT GT ./. 2 170175395 . C . . NT END=170177286;NT GT ./. 2 170177395 . C . . NT END=170218830;NT GT ./. 2 170218816 rs1559013 T C 323 nt VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.01538,C/0.9846;Gene=LRP2/NM_004525.2/1;CC=c.79+15A>G;VC=Intron;DM=LRP2/Ldl_recept_a;DM=LRP2/Ldl_recept_a GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:89:78:0:0:88,1:2821,8:323.48,0.07:241.63,0.00:81.84,0.07:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.8,50.0:0,0:0,0:42,17:106,134:30,0:NM_004525.2(LRP2) c.79+15A>G,NM_004525.2(LRP2) c.79+15A>G:0.98,0.98:0.988531,0.988531 2 170218847 rs1559014 C G 461 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=124;DB;DBA=in-clinvar;PAF=C/0.01538,G/0.9846;PC=0.001;Gene=LRP2/NM_004525.2/1;CC=c.63G>C;ProtCh=p.A21=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:124:102:0:0:124:4022:461.31:279.86:181.46:1.00:1.00:1.00:60:58.6:0:0:45:97:26:NM_004525.2(LRP2) c.63G>C (p.(=)),NM_004525.2(LRP2) c.63G>C (p.(=)):0.98,0.98:0.989243,0.989243 2 170218911 . T . . NT END=170336063;NT GT ./. 2 170336024 rs1879466 G C 177 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.08247,C/0.9175;Gene=BBS5/NM_152384.2/1;CC=c.-40G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:C:47:37:0:0:47:1543:176.64:107.47:69.17:1.00:1.00:1.00:60:41.0:0:0:67:83:30:NM_152384.2(BBS5) c.-40G>C,NM_152384.2(BBS5) c.-40G>C:0.93,0.93:0.898355,0.898355 2 170336123 . G . . NT END=170338760;NT GT ./. 2 170338584 rs75839720 C CA 24 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.4379,CA/0.5621;DB;DBA=NA;PAF=C/0.4379,CA/0.5621;DB;DBA=NA;PAF=NA;NP=1553;Gene=BBS5/NM_152384.2/1;CC=c.60-176dupA;VC=Intron;DM=BBS5/DUF1448;DM=BBS5/DUF1448;DM=BBS5/DUF1448;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:CA:7:7:7:0:7:202:23.53:23.53:0.00:1.00:1.00:0.00:60:6.9:0:0:46:105:29:NM_152384.2(BBS5) c.60-177_60-176insA,NM_152384.2(BBS5) c.60-177_60-176insA:0.57,0.57:NOT_FOUND,NOT_FOUND 2 170338844 . G . . NT END=170343578;NT GT ./. 2 170339003 rs2353187 C A 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3099,A/0.6901;PC=0.077;Gene=BBS5/NM_152384.2/1;CC=c.142+160C>A;VC=Intron;DM=BBS5/DUF1448;DM=BBS5/DUF1448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:212:24.53:0.00:24.53:1.00:0.00:1.00:60:53.6:0:0:98:52:46:NM_152384.2(BBS5) c.142+160C>A,NM_152384.2(BBS5) c.142+160C>A:0.68,0.68:NOT_FOUND,NOT_FOUND 2 170343645 . G . . NT END=170344315;NT GT ./. 2 170344366 . G . . NT END=170344496;NT GT ./. 2 170344625 . G . . NT END=170349383;NT GT ./. 2 170349520 . G . . NT END=170350250;NT GT ./. 2 170350347 . G . . NT END=170354136;NT GT ./. 2 170354200 . G . . NT END=170355995;NT GT ./. 2 170355944 rs12692909 A T 135 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.6172,T/0.3828;PC=0.001;Gene=BBS5/NM_152384.2/1;CC=c.682-52A>T;VC=Intron;DM=BBS5/DUF1448;DM=BBS5/DUF1448 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:28:0:0:36:1176:134.73:85.18:49.55:1.00:1.00:1.00:60:37.9:0:0:57:93:29:NM_152384.2(BBS5) c.682-52A>T,NM_152384.2(BBS5) c.682-52A>T:0.39,0.39:0.386308,0.386308 2 170356131 . G . . NT END=170359604;NT GT ./. 2 170359689 . G . . NT END=170360812;NT GT ./. 2 170360837 . G . . NT END=170360990;NT GT ./. 2 170361093 . T . . NT END=170366288;NT GT ./. 2 170361415 rs12692910 A G 404 nt VT=SNV;PN=C;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.11,G/0.89;Gene=BBS5/NM_152384.2/1;CC=c.*323A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:107:80:0:0:107:3527:403.67:195.45:208.23:1.00:1.00:1.00:60:65.8:0:0:65:80:33:NM_152384.2(BBS5) c.*323A>G,NM_152384.2(BBS5) c.*323A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 170361426 rs12692911 T C 396 nt VT=SNV;PN=T;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.05911,C/0.9409;PC=0.135;Gene=BBS5/NM_152384.2/1;CC=c.*334T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:107:77:0:0:107:3448:395.67:200.15:195.52:1.00:1.00:1.00:60:66.9:0:0:78:67:36:NM_152384.2(BBS5) c.*334T>C,NM_152384.2(BBS5) c.*334T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 170367399 . G . . NT END=170371083;NT GT ./. 2 170371242 . G . . NT END=170371363;NT GT ./. 2 170371472 . G . . NT END=170374699;NT GT ./. 2 170371545 rs373207430 C CT 16 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7572,CT/0.2428;NP=2;Gene=KLHL41/NM_006063.2/1;CC=c.1376+89_1376+90insT;VC=Intron;DM=KLHL41/Kelch_1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,T,CT,D:10:3:6:1:3,1,5,1:102,33,197,33:0.00,2.61,16.28,2.61:0.00,2.70,1.45,-0.04:0.00,-0.08,14.83,2.65:0.00,0.00,0.93,0.00:0.00,0.00,0.85,0.00:0.00,0.00,0.99,0.00:60,60,60,60:2.3,33.0,0.0,56.0:0,0,1,0:0,0,0,0:118,93,124,116:33,16,26,35:4,0,1,0:-,NM_006063.2(KBTBD10) c.1376+74_1376+75insT:-,NOT_FOUND:-,NOT_FOUND 2 170374886 . G . . NT END=170377370;NT GT ./. 2 170376771 rs7572182 T A,C 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4225,A/0.5775;PC=0.002;DM=KLHL41/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:12:6:0:0:10,2:236,23:27.40,1.74:12.37,1.01:15.03,0.73:1.00,0.00:1.00,0.00:1.00,0.00:60,60:78.3,98.0:0,0:0,0:73,101:62,49:19,20:NM_006063.2(KBTBD10) c.1563-600T>A,NM_006063.2(KBTBD10) c.1563-600T>C:0.6,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170376822 rs369521434 ATG G,A 33 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=23;PC=0.144;DM=KLHL41/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:51:ATG,G,A:12:3:0:2:1,9,2:9,306,68:0.00,33.22,6.13:0.00,5.38,-0.08:0.00,27.84,6.20:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:51,60,60:130.0,79.9,0.0:0,2,0:0,0,0:119,102,21:18,39,129:0,28,7:NM_006063.2(KBTBD10) c.1563-549_1563-548delAT,NM_006063.2(KBTBD10) c.1563-548_1563-547delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170377518 . G . . NT END=170382094;NT GT ./. 2 170382207 . A . . NT END=170386334;NT GT ./. 2 170386437 . C . . NT END=170387096;NT GT ./. 2 170386678 rs2166577 T C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6468,C/0.3532;Gene=FASTKD1/NM_001281476.1/0;CC=c.2314-242A>G;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.2443-242A>G;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;DM=FASTKD1/RAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:147:17.05:0.00:17.05:1.00:0.00:1.00:60:60.8:0:0:54:96:41:NM_024622.3(FASTKD1) c.2443-242A>G,NM_024622.3(FASTKD1) c.2443-242A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 2 170387212 . C . . NT END=170387861;NT GT ./. 2 170388001 . C . . NT END=170393736;NT GT ./. 2 170393851 . C . . NT END=170394522;NT GT ./. 2 170393925 rs2683423 G A 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6538,A/0.3462;Gene=FASTKD1/NM_001281476.1/0;CC=c.1946-75C>T;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.2075-75C>T;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;DM=FASTKD1/FAST_2;DM=FASTKD1/FAST_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:4:0:0:22:635:73.90:6.86:67.03:1.00:1.00:1.00:60:36.1:0:0:104:47:20:NM_024622.3(FASTKD1) c.2075-75C>T,NM_024622.3(FASTKD1) c.2075-75C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 2 170394487 rs2290005 T A 136 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6735,A/0.3265;PC=0.974;Gene=FASTKD1/NM_001281476.1/0;CC=c.1946-637A>T;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.2074+36A>T;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;DM=FASTKD1/FAST_2;DM=FASTKD1/FAST_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A:37:28:0:0:37:1188:136.44:92.03:44.41:1.00:1.00:1.00:60:35.7:0:0:39:111:23:NM_024622.3(FASTKD1) c.2074+36A>T,NM_024622.3(FASTKD1) c.2074+36A>T:0.34,0.34:0.303522,0.303522 2 170394652 . C . . NT END=170396560;NT GT ./. 2 170394876 rs1838903 C T 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3522,T/0.6478;Gene=FASTKD1/NM_001281476.1/0;CC=c.1946-1026G>A;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.1946-225G>A;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;DM=FASTKD1/FAST_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:235:26.84:0.00:26.84:1.00:0.00:1.00:60:35.0:0:0:70:81:17:NM_024622.3(FASTKD1) c.1946-225G>A,NM_024622.3(FASTKD1) c.1946-225G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 2 170396690 . C . . NT END=170401230;NT GT ./. 2 170401045 rs2592819 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5555,T/0.4445;Gene=FASTKD1/NM_001281476.1/0;CC=c.1816+186G>A;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.1816+186G>A;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;DM=FASTKD1/FAST_1;DM=FASTKD1/FAST_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:150:17.38:10.43:6.95:1.00:1.00:1.00:60:56.2:0:0:72:77:9:NM_024622.3(FASTKD1) c.1816+186G>A,NM_024622.3(FASTKD1) c.1816+186G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 2 170401346 . C . . NT END=170402727;NT GT ./. 2 170402485 rs2683425 A C 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3243,C/0.6757;PC=0.002;Gene=FASTKD1/NM_001281476.1/0;CC=c.1701+243T>G;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.1701+243T>G;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;DM=FASTKD1/FAST_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:282:32.49:32.49:0.00:1.00:1.00:0.00:60:33.6:0:0:50:101:24:NM_024622.3(FASTKD1) c.1701+243T>G,NM_024622.3(FASTKD1) c.1701+243T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 170403030 rs2253680 T C 381 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.4571,C/0.5429;Gene=FASTKD1/NM_001281476.1/0;CC=c.1399A>G;ProtCh=p.M467V;VC=Missense;Gene=FASTKD1/NM_024622.4/1;CC=c.1399A>G;ProtCh=p.M467V;VC=Missense;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:104:71:0:0:104:3316:380.93:212.81:168.12:1.00:1.00:1.00:60:35.2:0:0:80:57:39:NM_024622.3(FASTKD1) c.1399A>G (p.Met467Val),NM_024622.3(FASTKD1) c.1399A>G (p.Met467Val):0.57,0.57:0.556897,0.556897 2 170403215 . C . . NT END=170411633;NT GT ./. 2 170403429 rs2683426 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.01777,C/0.9822;NP=244;PC=0.010;Gene=FASTKD1/NM_001281476.1/0;CC=c.1215-215A>G;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.1215-215A>G;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:282:32.02:0.00:32.02:1.00:0.00:1.00:60:35.2:0:0:107:43:22:NM_024622.3(FASTKD1) c.1215-215A>G,NM_024622.3(FASTKD1) c.1215-215A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 170411485 rs2592823 C A 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6236,A/0.3764;Gene=FASTKD1/NM_001281476.1/0;CC=c.1214+149G>T;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.1214+149G>T;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:176:20.43:20.43:0.00:1.00:1.00:0.00:60:30.7:0:0:37:112:22:NM_024622.3(FASTKD1) c.1214+149G>T,NM_024622.3(FASTKD1) c.1214+149G>T:0.39,0.39:NOT_FOUND,NOT_FOUND 2 170411693 rs2683455 T C 213 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.3205,C/0.6795;PC=0.072;Gene=FASTKD1/NM_001281476.1/0;CC=c.1155A>G;ProtCh=p.L385=;VC=Silent;Gene=FASTKD1/NM_024622.4/1;CC=c.1155A>G;ProtCh=p.L385=;VC=Silent;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:45:0:0:55:1867:212.87:135.47:77.39:1.00:1.00:1.00:60:37.7:0:0:68:79:26:NM_024622.3(FASTKD1) c.1155A>G (p.(=)),NM_024622.3(FASTKD1) c.1155A>G (p.(=)):0.71,0.71:0.66136,0.66136 2 170411766 . C . . NT END=170413696;NT GT ./. 2 170413524 rs397986602 CA C 18 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CA/0.04014,C/0.9599;DB;DBA=NA;PAF=CA/0.04014,C/0.9599;NP=979;PC=0.007;Gene=FASTKD1/NM_001281476.1/0;CC=c.1082+172delT;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.1082+172delT;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:5:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:32.6:0:0:72:79:52:NM_024622.3(FASTKD1) c.1082+172delT,NM_024622.3(FASTKD1) c.1082+172delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170413601 rs2592824 A T 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.5545,T/0.4455;PC=0.085;Gene=FASTKD1/NM_001281476.1/0;CC=c.1082+96T>A;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.1082+96T>A;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:412:47.40:47.40:0.00:1.00:1.00:0.00:60:42.5:0:0:43:105:23:NM_024622.3(FASTKD1) c.1082+96T>A,NM_024622.3(FASTKD1) c.1082+96T>A:0.47,0.47:NOT_FOUND,NOT_FOUND 2 170413808 . C . . NT END=170416896;NT GT ./. 2 170413815 rs553731936 CA C 8 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=CA/0.9728,C/0.02716;NP=119;PC=0.965;Gene=FASTKD1/NM_001281476.1/0;CC=c.972-9delT;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.972-9delT;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,CA,I,C:24:14:1:3:1,19,1,3:34,585,31,99:2.15,0.00,1.85,7.53:-0.09,0.00,2.11,8.33:2.24,0.00,-0.26,-0.81:0.00,0.00,0.00,0.47:0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.86:60,60,60,60:34.0,15.5,41.0,0.0:1,0,0,0:0,0,0,0:21,107,83,92:129,37,68,58:0,16,0,16:-,NM_024622.3(FASTKD1) c.972-9delT:-,NOT_FOUND:-,NOT_FOUND 2 170413897 rs565102052 G GA 21 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1822;NP=7;Gene=FASTKD1/NM_001281476.1/0;CC=c.972-91dupT;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.972-91dupT;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:GA:6:0:6:0:6:184:21.26:0.00:21.26:1.00:0.00:1.00:60:5.7:0:0:65:85:30:NM_024622.3(FASTKD1) c.972-91_972-90insT,NM_024622.3(FASTKD1) c.972-91_972-90insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170417296 . C . . NT END=170419734;NT GT ./. 2 170419861 . C . . NT END=170425693;NT GT ./. 2 170425523 rs370159938 A C,AC 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.029 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:C,AC:13:13:1:0:12,1:387,33:44.00,2.66:44.00,2.66:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.0,0.0:0,0:0,0:33,27:118,123:28,0:NM_024622.3(FASTKD1) c.446+171T>G,NM_024622.3(FASTKD1) c.446+170_446+171insG:0.59,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170425763 . C . . NT END=170428162;NT GT ./. 2 170426121 rs2683448 C G 16 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3478,G/0.6522;PC=0.018;Gene=FASTKD1/NM_001281476.1/0;CC=c.378-359G>C;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.378-359G>C;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:139:15.81:1.94:13.87:1.00:1.00:1.00:60:37.0:0:0:83:68:10:NM_024622.3(FASTKD1) c.378-359G>C,NM_024622.3(FASTKD1) c.378-359G>C:0.66,0.66:NOT_FOUND,NOT_FOUND 2 170428127 rs4668146 T G 117 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.656,G/0.344;Gene=FASTKD1/NM_001281476.1/0;CC=c.377+36A>C;VC=Intron;Gene=FASTKD1/NM_024622.4/1;CC=c.377+36A>C;VC=Intron;Gene=FASTKD1/NR_104020.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:31:0:0:32:1019:117.05:107.66:9.39:1.00:1.00:1.00:60:37.7:0:0:40:110:20:NM_024622.3(FASTKD1) c.377+36A>C,NM_024622.3(FASTKD1) c.377+36A>C:0.37,0.37:0.31426,0.31426 2 170428540 . T . . NT END=170460551;NT GT ./. 2 170460613 . G . . NT END=170460696;NT GT ./. 2 170460772 . G . . NT END=170462548;NT GT ./. 2 170460817 rs199697267 A ATGGC 28 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.5849,ATGCC/.,ATGGC/0.4151;DB;DBA=NA;PAF=A/0.5849,ATGGC/0.4151;NP=249;PC=0.005;Gene=PPIG/NM_004792.2/1;CC=c.136+48_136+51dupGGCT;VC=Intron;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,ATGGC:25:9:10:0:14,1,10:424,21,306:0.00,0.96,28.29:0.00,-0.05,10.71:0.00,1.01,17.58:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:45.9,128.0,5.6:1,1,0:0,0,0:130,67,117:20,83,33:12,0,4:-,NM_004792.2(PPIG) c.136+46_136+47insTGGC:-,0.45:-,0.380093 2 170460823 rs41268691 T G 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=738;Gene=PPIG/NM_004792.2/1;CC=c.136+52T>G;VC=Intron;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:24:7:0:0:12,12:382,377:36.70,0.00:7.09,0.00:29.61,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:55.8,21.2:0,0:0,0:136,127:14,23:11,6:NM_004792.2(PPIG) c.136+52T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 170460837 rs60625025 G C 11 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=10;NP=7;PC=0.001;Gene=PPIG/NM_004792.2/1;CC=c.136+66G>C;VC=Intron;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,G,D:15:3:0:2:5,9,1:129,273,55:11.29,0.00,1.43:-0.41,0.00,-0.07:11.70,0.00,1.50:0.88,0.00,0.00:0.70,0.00,0.00:0.99,0.00,0.00:60,60,60:86.0,8.0,172.0:3,0,1:0,0,0:104,142,68:47,9,81:21,2,19:NM_004792.2(PPIG) c.136+66G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 170462657 . G . . NT END=170463613;NT GT ./. 2 170463551 rs2592813 T G 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.653,G/0.347;Gene=PPIG/NM_004792.2/1;CC=c.245-63T>G;VC=Intron;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase;DM=PPIG/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:15:0:0:21:725:82.52:45.89:36.63:1.00:1.00:1.00:60:43.3:0:0:35:112:14:NM_004792.2(PPIG) c.245-63T>G,NM_004792.2(PPIG) c.245-63T>G:0.36,0.36:0.341458,0.341458 2 170463659 . G . . NT END=170465180;NT GT ./. 2 170465269 . G . . NT END=170470973;NT GT ./. 2 170471004 . G . . NT END=170471094;NT GT ./. 2 170471235 . G . . NT END=170487283;NT GT ./. 2 170487498 . G . . NT END=170488083;NT GT ./. 2 170488158 . G . . NT END=170488275;NT GT ./. 2 170488444 . G . . NT END=170489669;NT GT ./. 2 170489758 . G . . NT END=170492601;NT GT ./. 2 170492739 . G . . NT END=170492922;NT GT ./. 2 170494034 . G . . NT END=170502350;NT GT ./. 2 170502693 . C . . NT END=170505691;NT GT ./. 2 170505857 . C . . NT END=170506838;NT GT ./. 2 170507032 . C . . NT END=170510584;NT GT ./. 2 170507244 rs71006012 C CTGTG 18 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=21;NP=55;Gene=CCDC173/NM_001085447.1/1;CC=c.960-214_960-213insCACA;VC=Intron;DM=CCDC173/TPH;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CTGTG,D:18:5:9:1:10,1,6,1:339,25,293,27:0.00,1.45,18.34,1.65:0.00,-0.02,8.24,-0.02:0.00,1.47,10.10,1.67:0.00,0.00,0.93,0.00:0.00,0.00,0.80,0.00:0.00,0.00,0.99,0.00:60,60,60,60:3.9,37.0,14.3,17.0:0,0,3,0:0,0,0,0:115,0,82,74:32,150,69,77:11,0,20,0:-,NM_001085447.1(CCDC173) c.960-214_960-213insCACA:-,NOT_FOUND:-,NOT_FOUND 2 170510725 . C . . NT END=170518789;NT GT ./. 2 170518947 . C . . NT END=170531085;NT GT ./. 2 170531280 . C . . NT END=170531376;NT GT ./. 2 170531551 . C . . NT END=170537516;NT GT ./. 2 170537744 . C . . NT END=170550770;NT GT ./. 2 170550838 . G . . NT END=170557481;NT GT ./. 2 170558208 . T . . NT END=170591524;NT GT ./. 2 170592738 . G . . NT END=170597894;NT GT ./. 2 170598048 . G . . NT END=170605931;NT GT ./. 2 170598331 rs4233831 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2057,G/0.7943;Gene=PHOSPHO2-KLHL23/NM_001199290.1/1;CC=c.1366+284A>G;VC=Intron;Gene=KLHL23/NM_144711.5/1;CC=c.1366+284A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:207:23.56:0.00:23.56:1.00:0.00:1.00:60:34.5:0:0:91:59:27:NM_001199290.1(PHOSPHO2-KLHL23) c.1366+284A>G,NM_001199290.1(PHOSPHO2-KLHL23) c.1366+284A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 170605981 rs4667607 C T 364 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.007588,T/0.9924;NP=3468;PC=0.366;Gene=PHOSPHO2-KLHL23/NM_001199290.1/1;CC=c.1416C>T;ProtCh=p.G472=;VC=Silent;Gene=KLHL23/NM_144711.5/1;CC=c.1416C>T;ProtCh=p.G472=;VC=Silent;DM=PHOSPHO2-KLHL23/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:103:79:0:0:1,102:6,3167:0.00,363.75:0.00,204.74:0.00,159.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:133.0,36.1:0,0:0,0:29,56:117,90:0,30:NM_001199290.1(PHOSPHO2-KLHL23) c.1416C>T (p.(=)),NM_001199290.1(PHOSPHO2-KLHL23) c.1416C>T (p.(=)):0.99,0.99:0.991081,0.991081 2 170606243 . T . . NT END=170657470;NT GT ./. 2 170606423 rs72113382 TTATA T 8 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TTATA/0.2666,T/0.7334;NP=95;Gene=PHOSPHO2-KLHL23/NM_001199290.1/1;CC=c.*196_*199delTATA;VC=3UTR;Gene=KLHL23/NM_144711.5/1;CC=c.*196_*199delTATA;VC=3UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:TTATA,T:6:0:0:3:3,3:96,84:0.00,8.02:0.00,0.00:0.00,8.02:0.00,0.73:0.00,0.00:0.00,0.73:60,60:43.3,93.3:0,0:0,0:81,89:70,61:27,11:-,NM_001199290.1(PHOSPHO2-KLHL23) c.*182TA[7]:-,NOT_FOUND:-,NOT_FOUND 2 170606450 rs79825047 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2676,T/0.7324;NP=125;PC=0.017;Gene=PHOSPHO2-KLHL23/NM_001199290.1/1;CC=c.*208C>T;VC=3UTR;Gene=KLHL23/NM_144711.5/1;CC=c.*208C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:163:18.68:0.00:18.68:1.00:0.00:1.00:60:82.0:2:0:104:47:19:NM_001199290.1(PHOSPHO2-KLHL23) c.*208C>T,NM_001199290.1(PHOSPHO2-KLHL23) c.*208C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170606476 rs59378347 CAT C 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CAT/0.09065,C/0.9093;NP=51;PC=0.030;Gene=PHOSPHO2-KLHL23/NM_001199290.1/1;CC=c.*241_*242delAT;VC=3UTR;Gene=KLHL23/NM_144711.5/1;CC=c.*241_*242delAT;VC=3UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:60.8:0:0:116:34:18:NM_001199290.1(PHOSPHO2-KLHL23) c.*235AT[3],NM_001199290.1(PHOSPHO2-KLHL23) c.*235AT[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 170649943 . G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:4:4:0:0:2,2:70,63:6.75,0.00:3.22,0.00:3.53,0.00:0.51,0.00:0.51,0.00:0.89,0.00:60,60:164.5,81.0:0,2:0,0:74,44:67,106:5,31:NM_003142.4(SSB) c.-174-u5379G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 170657537 . G . . NT END=170661983;NT GT ./. 2 170662088 . G . . NT END=170662174;NT GT ./. 2 170662350 . G . . NT END=170663294;NT GT ./. 2 170663403 . G . . NT END=170663480;NT GT ./. 2 170663582 . G . . NT END=170664991;NT GT ./. 2 170663800 rs3135036 C G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4924,G/0.5076;PC=0.003;Gene=SSB/NM_003142.4/1;CC=c.554+219C>G;VC=Intron;Gene=SSB/NM_001294145.1/0;CC=c.554+219C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:162:18.58:3.88:14.71:1.00:1.00:1.00:60:45.2:0:0:130:21:19:NM_003142.4(SSB) c.554+219C>G,NM_003142.4(SSB) c.554+219C>G:0.53,0.53:NOT_FOUND,NOT_FOUND 2 170665064 . G . . NT END=170665369;NT GT ./. 2 170665108 rs2556352 G A 129 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4351,A/0.5649,T/.;Gene=SSB/NM_003142.4/1;CC=c.626+45G>A;VC=Intron;Gene=SSB/NM_001294145.1/0;CC=c.626+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:15:0:0:37:1113:128.85:41.64:87.21:1.00:1.00:1.00:60:36.7:0:0:93:49:41:NM_003142.4(SSB) c.626+45G>A,NM_003142.4(SSB) c.626+45G>A:0.59,0.59:0.643088,0.643088 2 170665413 . G . . NT END=170666792;NT GT ./. 2 170666934 . G . . NT END=170667367;NT GT ./. 2 170667555 . G . . NT END=170667692;NT GT ./. 2 170667834 . G . . NT END=170668177;NT GT ./. 2 170668106 rs2246149 G A 143 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.4365,A/0.5635;Gene=SSB/NM_003142.4/1;CC=c.1139-72G>A;VC=Intron;Gene=SSB/NM_001294145.1/0;CC=c.1139-72G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A:40:35:0:0:40:1240:143.01:106.14:36.87:1.00:1.00:1.00:60:43.0:0:0:61:79:30:NM_003142.4(SSB) c.1139-72G>A,NM_003142.4(SSB) c.1139-72G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 2 170668267 . T . . NT END=170668329;NT GT ./. 2 170668369 . C . . NT END=170668966;NT GT ./. 2 170668813 rs3731674 C T 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.494,T/0.506;Gene=METTL5/NM_001293186.1/1;CC=c.591+154G>A;VC=Intron;Gene=METTL5/NM_001293187.1/0;CC=c.591+154G>A;VC=Intron;Gene=METTL5/NM_014168.3/0;CC=c.591+154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:134:16.18:16.18:0.00:1.00:1.00:0.00:60:24.2:0:0:95:55:34:NM_014168.2(METTL5) c.591+154G>A,NM_014168.2(METTL5) c.591+154G>A:0.51,0.51:NOT_FOUND,NOT_FOUND 2 170669017 . C . . NT END=170671986;NT GT ./. 2 170672039 . C . . NT END=170676070;NT GT ./. 2 170676154 . C . . NT END=170677601;NT GT ./. 2 170676227 rs1541776 T C 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2985,C/0.7015;Gene=METTL5/NM_001293186.1/1;CC=c.407-74A>G;VC=Intron;Gene=METTL5/NM_001293187.1/0;CC=c.407-74A>G;VC=Intron;Gene=METTL5/NM_014168.3/0;CC=c.407-74A>G;VC=Intron;DM=METTL5/MTS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:3:0:0:15:507:57.82:7.95:49.87:1.00:1.00:1.00:60:51.1:0:0:104:46:27:NM_014168.2(METTL5) c.407-74A>G,NM_014168.2(METTL5) c.407-74A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 170677395 rs3049450 T TTG 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=55;Gene=METTL5/NM_001293186.1/1;CC=c.406+206_406+207insCA;VC=Intron;Gene=METTL5/NM_001293187.1/0;CC=c.406+206_406+207insCA;VC=Intron;Gene=METTL5/NM_014168.3/0;CC=c.406+206_406+207insCA;VC=Intron;DM=METTL5/MTS;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:T,TTG:7:7:4:0:3,4:77,130:0.00,12.85:0.00,12.85:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:19.3,18.2:0,0:0,0:93,14:57,137:40,3:-,NM_014168.2(METTL5) c.406+206_406+207insCA:-,NOT_FOUND:-,NOT_FOUND 2 170677492 rs2162516 A G 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.4722,G/0.5278;PC=0.011;Gene=METTL5/NM_001293186.1/1;CC=c.406+110T>C;VC=Intron;Gene=METTL5/NM_001293187.1/0;CC=c.406+110T>C;VC=Intron;Gene=METTL5/NM_014168.3/0;CC=c.406+110T>C;VC=Intron;DM=METTL5/MTS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:G:23:23:0:0:23:633:73.97:73.97:0.00:1.00:1.00:0.00:60:30.1:0:0:41:110:24:NM_014168.2(METTL5) c.406+110T>C,NM_014168.2(METTL5) c.406+110T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 2 170677784 . C . . NT END=170678452;NT GT ./. 2 170677855 rs527613249 G GT 58 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=2041;PC=0.001;Gene=METTL5/NM_001293186.1/1;CC=c.225-73dupA;VC=Intron;Gene=METTL5/NM_001293187.1/0;CC=c.225-73dupA;VC=Intron;Gene=METTL5/NM_014168.3/0;CC=c.225-73dupA;VC=Intron;DM=METTL5/MTS;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:G,GT:22:4:17:0:5,17:160,550:0.00,57.99:0.00,7.21:0.00,50.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,1.4:1,0:0,0:139,102:8,49:4,15:-,NM_014168.2(METTL5) c.225-73_225-72insA:-,0.52:-,NOT_FOUND 2 170678568 . C . . NT END=170680998;NT GT ./. 2 170678576 rs373745484 TA T 13 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=23;Gene=METTL5/NM_001293186.1/1;CC=c.110-10delT;VC=Intron;Gene=METTL5/NM_001293187.1/0;CC=c.110-10delT;VC=Intron;Gene=METTL5/NM_014168.3/0;CC=c.110-10delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,TA,I,T:27:10:2:5:1,20,1,5:20,602,66,160:0.75,0.00,2.02,12.94:-0.10,0.00,1.06,1.01:0.85,0.00,0.95,11.93:0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.97:60,60,60,60:20.0,9.8,0.0,29.2:0,0,1,0:0,0,0,0:20,104,94,125:117,46,56,25:0,20,0,10:-,NM_014168.2(METTL5) c.110-10delT:-,NOT_FOUND:-,NOT_FOUND 2 170680879 rs3769767 G A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7987,A/0.2013;Gene=METTL5/NM_001293186.1/1;CC=c.109+120C>T;VC=Intron;Gene=METTL5/NM_001293187.1/0;CC=c.109+120C>T;VC=Intron;Gene=METTL5/NM_014168.3/0;CC=c.109+120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:16:0:0:8,8:260,270:25.00,0.00:25.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.9,11.0:0,0:0,0:84,53:66,83:33,29:NM_014168.2(METTL5) c.109+120C>T,-:0.21,-:NOT_FOUND,- 2 170681108 . T . . NT END=170684017;NT GT ./. 2 170684224 rs2303555 C T 461 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=270;DB;DBA=NA;PAF=C/0.594,T/0.406;Gene=UBR3/NM_172070.3/1;CC=c.207C>T;ProtCh=p.A69=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:270:181:0:0:124,1,145:3761,11,4727:0.00,-0.16,461.26:0.00,-0.13,228.30:0.00,-0.03,232.96:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.6,114.0,42.7:0,0,0:0,0,0:68,90,80:82,59,69:37,0,43:-,NM_172070.3(UBR3) c.207C>T (p.(=)):-,0.46:-,NOT_FOUND 2 170684563 . G . . NT END=170728745;NT GT ./. 2 170684743 rs9287921 G A 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2382,A/0.7618;PC=0.016;Gene=UBR3/NM_172070.3/1;CC=c.545+181G>A;VC=Intron;DM=UBR3/zf-UBR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:10,10:335,290:32.28,0.00:0.00,0.00:32.28,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:117.8,64.0:0,0:0,0:113,76:24,48:27,35:NM_172070.3(UBR3) c.545+181G>A,-:0.73,-:NOT_FOUND,- 2 170728886 . G . . NT END=170732300;NT GT ./. 2 170732460 . G . . NT END=170734003;NT GT ./. 2 170732594 rs377528123 C CT 17 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=2;NP=7;PC=0.030;Gene=UBR3/NM_172070.3/1;CC=c.844+152_844+153insT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,CT,D:14:0:7:3:6,6,2:189,214,100:0.00,17.18,5.50:0.00,0.00,0.00:0.00,17.18,5.50:0.00,0.95,0.00:0.00,0.00,0.00:0.00,0.95,0.00:60,70,60:4.3,15.5,0.0:0,1,1:0,0,0:136,65,45:14,85,106:12,45,28:-,NM_172070.3(UBR3) c.844+135_844+136insT:-,NOT_FOUND:-,NOT_FOUND 2 170732730 rs4668175 A G 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.02336,G/0.9766;PC=0.091;Gene=UBR3/NM_172070.3/1;CC=c.844+271A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G,T:6:0:0:0:5,1:164,10:18.39,0.73:0.00,0.00:18.39,0.73:1.00,0.00:0.00,0.00:1.00,0.00:60,56:36.6,156.0:0,0:0,0:105,96:46,55:25,0:NM_172070.3(UBR3) c.844+271A>G,NM_172070.3(UBR3) c.844+271A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 170733740 rs6747239 C T 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2382,T/0.7618;PC=0.001;Gene=UBR3/NM_172070.3/1;CC=c.845-264C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:6:5:0:0:2,4:69,130:0.00,13.25:0.00,9.75:0.00,3.50:0.00,0.93:0.00,0.99:0.00,0.78:60,60:16.0,32.5:0,0:0,0:62,41:88,108:43,16:-,NM_172070.3(UBR3) c.845-264C>T:-,0.76:-,NOT_FOUND 2 170733867 rs72887736 A G 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.9325,G/0.06749;PC=0.887;Gene=UBR3/NM_172070.3/1;CC=c.845-137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:24:24:0:0:10,13,1:293,415,8:0.00,40.84,0.03:0.00,40.84,0.03:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:26.8,39.8,96.0:0,0,0:0,0,0:45,77,106:104,74,45:39,33,0:-,NM_172070.3(UBR3) c.845-137A>G:-,0.06:-,NOT_FOUND 2 170734148 . G . . NT END=170735034;NT GT ./. 2 170734871 rs371925011 C CA 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.360;Gene=UBR3/NM_172070.3/1;CC=c.989-148_989-147insA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,CA,D:7:8:4:1:3,3,1:94,113,31:0.00,7.64,2.50:0.00,7.64,2.50:0.00,0.00,0.00:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.00,0.00:60,60,60:39.3,54.0,0.0:0,1,0:0,0,0:13,25,61:128,125,90:13,9,0:-,NM_172070.3(UBR3) c.989-164_989-163insA:-,NOT_FOUND:-,NOT_FOUND 2 170735085 . G . . NT END=170747674;NT GT ./. 2 170747742 . G . . NT END=170751690;NT GT ./. 2 170751822 . G . . NT END=170753016;NT GT ./. 2 170753246 . G . . NT END=170761623;NT GT ./. 2 170761317 rs17554702 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6288,C/0.3712;PC=0.001;Gene=UBR3/NM_172070.3/1;CC=c.1466-307T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:4:0:0:3,1:104,33:10.85,0.00:10.85,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:106.0,36.0:0,0:0,0:61,24:89,127:57,0:NM_172070.3(UBR3) c.1466-307T>C,-:0.41,-:NOT_FOUND,- 2 170761368 rs56323040 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6292,G/0.3708;Gene=UBR3/NM_172070.3/1;CC=c.1466-256A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:4:4:0:0:1,3:31,106:0.00,11.05:0.00,11.05:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:36.0,102.3:0,0:0,0:75,55:76,94:0,28:-,NM_172070.3(UBR3) c.1466-256A>G:-,0.41:-,NOT_FOUND 2 170761376 rs4668182 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.01178,G/0.9882;NP=173;Gene=UBR3/NM_172070.3/1;CC=c.1466-248A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:85.8:0:0:73:77:24:NM_172070.3(UBR3) c.1466-248A>G,NM_172070.3(UBR3) c.1466-248A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 170761804 . G . . NT END=170762540;NT GT ./. 2 170762487 rs10171268 C T 206 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.02496,T/0.975;Gene=UBR3/NM_172070.3/1;CC=c.1646-54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:48:0:0:56:1792:205.89:154.92:50.97:1.00:1.00:1.00:60:41.1:0:0:39:105:25:NM_172070.3(UBR3) c.1646-54C>T,NM_172070.3(UBR3) c.1646-54C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 170762675 . G . . NT END=170770569;NT GT ./. 2 170770657 . G . . NT END=170780438;NT GT ./. 2 170770833 rs1031774 G C 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8053,C/0.1947;PC=0.030;Gene=UBR3/NM_172070.3/1;CC=c.1866+177G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:C,G:11:0:0:0:7,4:235,140:23.71,0.00:0.00,0.00:23.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.6,3.8:0,0:0,0:93,67:58,83:15,12:NM_172070.3(UBR3) c.1866+177G>C,-:0.21,-:NOT_FOUND,- 2 170780505 . G . . NT END=170780593;NT GT ./. 2 170780684 . G . . NT END=170782128;NT GT ./. 2 170782037 rs1461958 C T 122 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.02336,T/0.9766;PC=0.949;Gene=UBR3/NM_172070.3/1;CC=c.2023-92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:29:0:0:33:1061:121.80:89.45:32.35:1.00:1.00:1.00:60:42.9:0:0:48:103:23:NM_172070.3(UBR3) c.2023-92C>T,NM_172070.3(UBR3) c.2023-92C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 170782258 . G . . NT END=170783201;NT GT ./. 2 170782338 rs13016918 C T 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6014,T/0.3986;PC=0.001;Gene=UBR3/NM_172070.3/1;CC=c.2151+81C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:4:0:0:11,10:309,330:0.00,31.47:0.00,4.41:0.00,27.06:0.00,1.00:0.00,0.93:0.00,1.00:60,60:1.1,36.5:0,0:0,0:110,120:41,29:18,15:-,NM_172070.3(UBR3) c.2151+81C>T:-,0.44:-,NOT_FOUND 2 170783092 rs367960275 CAAAAACA C 17 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=CAAAAACA/0.5451,C/0.4549;DB;DBA=NA;PAF=CAAAAACA/0.5451,C/0.4549;NP=559;PC=0.001;Gene=UBR3/NM_172070.3/1;CC=c.2152-83_2152-77delCAAAAAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:CAAAAACA,C:26:25:0:7:19,7:598,202:0.00,16.97:0.00,13.33:0.00,3.64:0.00,0.96:0.00,1.00:0.00,0.83:60,60:5.2,1.9:0,0:0,0:51,85:100,66:33,28:-,NM_172070.3(UBR3) c.2152-109_2152-103delAAAAACA:-,0.5:-,NOT_FOUND 2 170783255 . G . . NT END=170783347;NT GT ./. 2 170783482 . G . . NT END=170783829;NT GT ./. 2 170783769 rs72891954 G C 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8586,C/0.1414;PC=0.014;Gene=UBR3/NM_172070.3/1;CC=c.2339-61G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:27:21:0:0:14,13:401,408:38.58,0.00:29.03,0.00:9.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,14.0:0,0:0,0:42,85:108,66:19,32:NM_172070.3(UBR3) c.2339-61G>C,-:0.15,-:NOT_FOUND,- 2 170783916 . A . . NT END=170785236;NT GT ./. 2 170784049 rs898851 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2694,A/0.7306;Gene=UBR3/NM_172070.3/1;CC=c.2424+134G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:A,G:11:0:0:0:7,4:231,114:23.32,0.00:0.00,0.00:23.32,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.7,0.0:0,0:0,0:129,116:21,33:14,15:NM_172070.3(UBR3) c.2424+134G>A,-:0.74,-:NOT_FOUND,- 2 170785129 rs898849 A G 93 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.02316,G/0.9768;Gene=UBR3/NM_172070.3/1;CC=c.2425-108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:23:0:0:25:809:92.76:80.67:12.08:1.00:1.00:1.00:60:35.7:0:0:45:106:29:NM_172070.3(UBR3) c.2425-108A>G,NM_172070.3(UBR3) c.2425-108A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 170785379 . G . . NT END=170789421;NT GT ./. 2 170789519 . G . . NT END=170799002;NT GT ./. 2 170799145 . G . . NT END=170802797;NT GT ./. 2 170802903 . G . . NT END=170804051;NT GT ./. 2 170804226 . G . . NT END=170804414;NT GT ./. 2 170804448 . G . . NT END=170806114;NT GT ./. 2 170804589 rs397869309 GT G 13 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=GT/0.6106,G/0.3894;DB;DBA=NA;PAF=GT/0.6106,G/0.3894;NP=340;PC=0.002;Gene=UBR3/NM_172070.3/1;CC=c.3084+376delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:GT,G:11:0:0:6:6,5:160,139:0.00,13.01:0.00,0.00:0.00,13.01:0.00,0.93:0.00,0.00:0.00,0.93:60,60:8.3,19.2:0,0:0,0:83,109:66,42:33,6:-,NM_172070.3(UBR3) c.3084+365delT:-,NOT_FOUND:-,NOT_FOUND 2 170806576 . G . . NT END=170814947;NT GT ./. 2 170815037 . G . . NT END=170843154;NT GT ./. 2 170843305 . G . . NT END=170850832;NT GT ./. 2 170843469 rs2061620 T C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.02416,C/0.9758;Gene=UBR3/NM_172070.3/1;CC=c.3784+165T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:248:28.61:0.00:28.61:1.00:0.00:1.00:60:37.6:0:0:81:69:15:NM_172070.3(UBR3) c.3784+165T>C,NM_172070.3(UBR3) c.3784+165T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 170850738 rs1461959 T C 149 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.01817,C/0.9818;Gene=UBR3/NM_172070.3/1;CC=c.3785-95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:C:41:37:0:0:41:1292:148.68:121.55:27.12:1.00:1.00:1.00:60:40.8:0:0:41:107:31:NM_172070.3(UBR3) c.3785-95T>C,NM_172070.3(UBR3) c.3785-95T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 170850967 . G . . NT END=170857813;NT GT ./. 2 170857925 . G . . NT END=170863499;NT GT ./. 2 170863713 . G . . NT END=170865313;NT GT ./. 2 170865451 . G . . NT END=170871790;NT GT ./. 2 170871877 . G . . NT END=170873342;NT GT ./. 2 170871976 rs13028230 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3309,G/0.6691;Gene=UBR3/NM_172070.3/1;CC=c.4453+100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,G:11:0:0:0:6,5:181,171:0.00,16.20:0.00,0.00:0.00,16.20:0.00,0.93:0.00,0.00:0.00,0.93:60,60:3.0,41.0:0,0:0,0:101,121:49,30:36,15:-,NM_172070.3(UBR3) c.4453+100A>G:-,0.67:-,NOT_FOUND 2 170873361 rs10497356 T C 34 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.9199,C/0.08007;PC=0.002;Gene=UBR3/NM_172070.3/1;CC=c.4453+1485T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:15:0:0:11,11:356,315:34.21,0.00:23.98,0.00:10.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,10.6:0,0:0,0:65,61:81,76:18,33:NM_172070.3(UBR3) c.4453+1485T>C,-:0.08,-:NOT_FOUND,- 2 170873430 . G . . NT END=170885855;NT GT ./. 2 170874050 rs62172022 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1603,G/0.8397;NP=131;NP=2;PC=0.009;Gene=UBR3/NM_172070.3/1;CC=c.4453+2174C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:5:0:0:2,3:70,102:0.00,10.17:0.00,6.71:0.00,3.46:0.00,0.78:0.00,0.78:0.00,0.94:60,60:5.5,82.0:0,0:0,0:70,82:70,31:29,0:-,NM_172070.3(UBR3) c.4453+2174C>T:-,NOT_FOUND:-,NOT_FOUND 2 170874056 rs62172023 G C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1603,C/0.8397;NP=157;Gene=UBR3/NM_172070.3/1;CC=c.4453+2180G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,G,D:6:6:0:1:3,2,1:90,66,34:8.92,0.00,2.94:5.55,0.00,3.02:3.38,0.00,-0.08:0.73,0.00,0.00:0.73,0.00,0.00:0.51,0.00,0.00:60,60,60:79.7,0.0,0.0:0,0,0:0,0,0:88,71,47:25,29,104:0,34,0:NM_172070.3(UBR3) c.4453+2180G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 170885959 . G . . NT END=170897391;NT GT ./. 2 170897496 . G . . NT END=170911969;NT GT ./. 2 170911666 rs7576667 G A 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9229,A/0.07708;PC=0.003;Gene=UBR3/NM_172070.3/1;CC=c.4661-304G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:9:9:0:0:5,4:148,135:14.50,0.00:14.67,0.00:-0.18,0.00:0.96,0.00:0.96,0.00:0.70,0.00:60,60:35.8,0.0:0,0:0,0:19,87:132,64:17,38:NM_172070.3(UBR3) c.4661-304G>A,-:0.07,-:NOT_FOUND,- 2 170912095 . G . . NT END=170917588;NT GT ./. 2 170917544 rs72876447 T A 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.8658,A/0.1342,C/.;PC=0.001;Gene=UBR3/NM_172070.3/1;CC=c.4786-45T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:25:0:0:12,15:387,458:36.39,0.00:29.77,0.00:6.62,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:42.7,6.2:0,0:0,0:41,55:108,95:25,33:NM_172070.3(UBR3) c.4786-45T>A,-:0.14,-:0.123999,- 2 170917697 . G . . NT END=170917827;NT GT ./. 2 170917954 . G . . NT END=170929937;NT GT ./. 2 170917983 rs559346011 CT C 101 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=316;PC=0.513;Gene=UBR3/NM_172070.3/1;CC=c.5019+42delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:40:18:0:38:10,30:311,1215:0.00,101.43:0.00,20.16:0.00,81.27:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.7,13.1:0,8:0,0:144,89:6,54:5,20:-,NM_172070.3(UBR3) c.5019+31delT:-,NOT_FOUND:-,NOT_FOUND 2 170918168 rs13019850 G A 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.603,A/0.397;PC=0.077;Gene=UBR3/NM_172070.3/1;CC=c.5019+215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,G:12:0:0:0:7,5:243,161:24.10,0.00:0.00,0.00:24.10,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:37.7,2.6:0,0:0,0:131,120:20,31:15,27:NM_172070.3(UBR3) c.5019+215G>A,-:0.43,-:NOT_FOUND,- 2 170930118 . G . . NT END=170936323;NT GT ./. 2 170930241 rs397709141 G GA 20 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6116,GA/0.3884;DB;DBA=NA;PAF=G/0.6116,GA/0.3884;NP=1;NP=1084;Gene=UBR3/NM_172070.3/1;CC=c.5199+130dupA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA:18:1:7:0:1,10,7:31,339,213:2.08,0.00,19.63:0.00,0.00,1.73:2.08,0.00,17.90:0.00,0.00,0.98:0.00,0.00,0.59:0.00,0.00,0.98:60,60,60:31.0,0.0,9.4:1,0,0:0,0,0:108,126,108:43,24,41:0,12,17:-,NM_172070.3(UBR3) c.5199+124_5199+125insA:-,0.41:-,NOT_FOUND 2 170933685 rs2012573 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.229,A/0.771;Gene=UBR3/NM_172070.3/1;CC=c.5200-2639G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:6:6:0:0:3,3:99,105:9.52,0.00:7.84,0.00:1.69,0.00:0.73,0.00:0.73,0.00:0.67,0.00:60,60:42.0,0.0:0,0:0,0:74,37:77,114:16,11:NM_172070.3(UBR3) c.5200-2639G>A,-:0.78,-:NOT_FOUND,- 2 170934083 rs13008215 G T 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2746,T/0.7254;PC=1.000;Gene=UBR3/NM_172070.3/1;CC=c.5200-2241G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:G,T:11:1:0:0:5,6:176,192:0.00,18.77:0.00,-0.17:0.00,18.94:0.00,0.98:0.00,0.70:0.00,0.98:60,60:3.8,69.8:0,0:0,0:116,107:35,43:3,24:-,NM_172070.3(UBR3) c.5200-2241G>T:-,0.73:-,NOT_FOUND 2 170934182 rs2883448 G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.08606,A/0.9139;PC=0.001;Gene=UBR3/NM_172070.3/1;CC=c.5200-2142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:1:0:0:5:123:14.64:3.78:10.87:1.00:1.00:1.00:60:37.8:0:0:70:79:40:NM_172070.3(UBR3) c.5200-2142G>A,NM_172070.3(UBR3) c.5200-2142G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 170936534 . G . . NT END=170937054;NT GT ./. 2 170937195 . G . . NT END=170938235;NT GT ./. 2 170938354 . C . . NT END=171034797;NT GT ./. 2 171034800 . G . . NT END=171055717;NT GT ./. 2 171035026 rs918908 C A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.62,A/0.38;PC=0.011;Gene=MYO3B/NM_001083615.3/0;CC=c.2+227C>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2+227C>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:2:0:0:8:181:21.75:5.47:16.29:1.00:1.00:1.00:60:51.0:0:0:96:54:34:NM_138995.4(MYO3B) c.2+227C>A,NM_138995.4(MYO3B) c.2+227C>A:0.37,0.37:NOT_FOUND,NOT_FOUND 2 171035058 rs112162295 CCACACA C 20 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=29;Gene=MYO3B/NM_001083615.3/0;CC=c.2+282_2+287delCACACA;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2+282_2+287delCACACA;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:7:6:209:20.45:3.81:16.64:1.00:0.90:1.00:60:28.5:1:0:36:115:16:NM_138995.4(MYO3B) c.2+260_2+265delCACACA,NM_138995.4(MYO3B) c.2+260_2+265delCACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 171055902 . G . . NT END=171056659;NT GT ./. 2 171056795 . G . . NT END=171070888;NT GT ./. 2 171070810 rs67994603 G T 124 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.4535,T/0.5465;Gene=MYO3B/NM_001083615.3/0;CC=c.322-79G>T;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.322-79G>T;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:32:0:0:34:1080:124.10:107.99:16.11:1.00:1.00:1.00:60:46.7:0:0:63:87:35:NM_138995.4(MYO3B) c.322-79G>T,NM_138995.4(MYO3B) c.322-79G>T:0.55,0.55:NOT_FOUND,NOT_FOUND 2 171070994 . G . . NT END=171071238;NT GT ./. 2 171071339 . G . . NT END=171073828;NT GT ./. 2 171071369 rs4667626 C T 120 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.04772,T/0.9523;PC=1.000;Gene=MYO3B/NM_001083615.3/0;CC=c.526+31C>T;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.526+31C>T;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:8:0:0:32:1050:120.25:21.27:98.98:1.00:1.00:1.00:60:46.4:0:0:118:32:24:NM_138995.4(MYO3B) c.526+31C>T,NM_138995.4(MYO3B) c.526+31C>T:0.94,0.94:0.907681,0.907681 2 171073906 . G . . NT END=171092500;NT GT ./. 2 171074008 rs6713360 G C 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6993,C/0.3007;Gene=MYO3B/NM_001083615.3/0;CC=c.603+103G>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.603+103G>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:0:0:0:17:557:63.79:0.00:63.79:1.00:0.00:1.00:60:36.1:0:0:104:47:26:NM_138995.4(MYO3B) c.603+103G>C,NM_138995.4(MYO3B) c.603+103G>C:0.31,0.31:NOT_FOUND,NOT_FOUND 2 171092363 rs6433185 G A 103 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.001198,A/0.9988;NP=3384;Gene=MYO3B/NM_001083615.3/0;CC=c.604-138G>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.604-138G>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:27:0:0:29:890:102.73:96.78:5.95:1.00:1.00:1.00:60:55.5:0:0:53:98:41:NM_138995.4(MYO3B) c.604-138G>A,NM_138995.4(MYO3B) c.604-138G>A:1,1:NOT_FOUND,NOT_FOUND 2 171092445 rs1035625 A G 289 nt VT=SNV;PN=T;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.352,G/0.648;PC=0.046;Gene=MYO3B/NM_001083615.3/0;CC=c.604-56A>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.604-56A>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:64:0:0:75:2531:288.84:209.96:78.88:1.00:1.00:1.00:60:44.8:0:0:50:98:26:NM_138995.4(MYO3B) c.604-56A>G,NM_138995.4(MYO3B) c.604-56A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 2 171092647 . G . . NT END=171191894;NT GT ./. 2 171191961 . G . . NT END=171225731;NT GT ./. 2 171225546 rs12105460 T G 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8397,G/0.1603;PC=0.003;Gene=MYO3B/NM_001083615.3/0;CC=c.816-186T>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.816-186T>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:G,T:7:7:0:0:4,3:135,73:13.36,0.00:13.36,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:39.5,48.7:0,0:0,0:71,21:79,129:25,4:NM_138995.4(MYO3B) c.816-186T>G,-:0.16,-:NOT_FOUND,- 2 171225888 . G . . NT END=171238525;NT GT ./. 2 171238303 . C G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;PC=0.003;Gene=MYO3B/NM_001083615.3/0;CC=c.972-223C>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.972-223C>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,G:7:7:0:0:1,6:34,183:0.00,19.89:0.00,19.89:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:93.0,51.3:0,0:0,0:12,10:137,140:0,7:-,NM_138995.4(MYO3B) c.972-223C>G:-,NOT_FOUND:-,NOT_FOUND 2 171238623 . G . . NT END=171239582;NT GT ./. 2 171239560 rs12471568 A G 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.7853,C/.,G/0.2147;Gene=MYO3B/NM_001083615.3/0;CC=c.1069-23A>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1069-23A>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:21:0:0:11,12:369,403:0.00,39.11:0.00,19.69:0.00,19.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,34.4:0,0:0,0:60,53:78,97:43,31:-,NM_138995.4(MYO3B) c.1069-23A>G:-,0.23:-,0.249789 2 171239700 . G . . NT END=171240219;NT GT ./. 2 171240249 rs11675394 C T 49 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7845,T/0.2155;PC=0.079;Gene=MYO3B/NM_001083615.3/0;CC=c.1215C>T;ProtCh=p.R405=;VC=Silent;Gene=MYO3B/NM_138995.4/1;CC=c.1215C>T;ProtCh=p.R405=;VC=Silent;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:27:0:0:18,16:602,514:0.00,48.81:0.00,20.82:0.00,27.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,40.4:0,0:0,0:72,47:78,91:46,34:-,NM_138995.4(MYO3B) c.1215C>T (p.(=)):-,0.23:-,0.249751 2 171240325 . G . . NT END=171242698;NT GT ./. 2 171240550 rs2048987 T A,C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:29:A,C:4:0:0:0:1,3:35,94:3.38,10.46:0.00,0.00:3.38,10.46:0.00,0.85:0.00,0.00:0.00,0.85:60,60:35.0,31.3:0,0:0,0:128,122:23,29:0,19:NM_138995.4(MYO3B) c.1290+226T>A,NM_138995.4(MYO3B) c.1290+226T>C:0.89,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 171242783 . G . . NT END=171243615;NT GT ./. 2 171242865 rs9646733 G T 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.8037,T/0.1963;Gene=MYO3B/NM_001083615.3/0;CC=c.1374+83G>T;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1374+83G>T;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,I:21:2:1:0:12,8,1:354,262,32:0.00,24.18,2.11:0.00,-0.21,-0.02:0.00,24.39,2.13:0.00,0.99,0.00:0.00,0.68,0.00:0.00,0.99,0.00:60,60,70:18.1,65.8,73.0:0,0,0:0,0,0:84,122,105:62,28,46:58,5,0:-,NM_138995.4(MYO3B) c.1374+83G>T:-,0.19:-,NOT_FOUND 2 171242878 rs9646782 A G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8031,G/0.1969;Gene=MYO3B/NM_001083615.3/0;CC=c.1374+96A>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1374+96A>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:2:0:0:9,8:273,237:0.00,22.41:0.00,-0.28:0.00,22.69:0.00,0.99:0.00,0.77:0.00,0.99:60,70:19.2,70.9:0,0:0,0:55,133:77,17:31,7:-,NM_138995.4(MYO3B) c.1374+96A>G:-,0.21:-,NOT_FOUND 2 171243297 rs11694169 C T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7574,T/0.2426;Gene=MYO3B/NM_001083615.3/0;CC=c.1375-319C>T;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1375-319C>T;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:5:5:0:0:2,3:68,76:0.00,7.53:0.00,7.53:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,59.7:0,0:0,0:44,36:106,104:4,22:-,NM_138995.4(MYO3B) c.1375-319C>T:-,0.24:-,NOT_FOUND 2 171243819 . G . . NT END=171248029;NT GT ./. 2 171244004 rs1438627 A C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6603,C/0.3397;Gene=MYO3B/NM_001083615.3/0;CC=c.1577+186A>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1577+186A>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:A,C:9:0:0:0:5,4:139,138:0.00,13.02:0.00,0.00:0.00,13.02:0.00,0.85:0.00,0.00:0.00,0.85:60,60:7.8,41.0:0,0:0,0:133,106:18,42:16,27:-,NM_138995.4(MYO3B) c.1577+186A>C:-,0.35:-,NOT_FOUND 2 171248129 . G . . NT END=171248890;NT GT ./. 2 171248632 rs397872663 CA A,C 9 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:23:A,C:4:6:0:5:1,3:29,148:2.60,8.93:2.60,8.93:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:139.0,54.7:1,2:0,0:65,33:86,117:0,5:NM_138995.4(MYO3B) c.1677-259delC,NM_138995.4(MYO3B) c.1677-258delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 171248778 rs62170829 G A 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8009,A/0.1991;PC=0.205;Gene=MYO3B/NM_001083615.3/0;CC=c.1677-113G>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1677-113G>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:8,9:221,297:20.78,0.00:20.78,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:43.0,8.3:0,0:0,0:69,102:82,49:33,24:NM_138995.4(MYO3B) c.1677-113G>A,-:0.2,-:NOT_FOUND,- 2 171249006 . G . . NT END=171256697;NT GT ./. 2 171249093 rs2013102 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.762,T/0.238;Gene=MYO3B/NM_001083615.3/0;CC=c.1791+88C>T;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1791+88C>T;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:12,9:361,288:0.00,26.91:0.00,0.00:0.00,26.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.7,36.7:0,0:0,0:89,133:61,18:23,13:-,NM_138995.4(MYO3B) c.1791+88C>T:-,0.25:-,NOT_FOUND 2 171256597 rs7561268 A C 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.525,C/0.475;Gene=MYO3B/NM_001083615.3/0;CC=c.1792-101A>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1792-101A>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:38:0:0:24,16:712,519:0.00,47.86:0.00,41.25:0.00,6.60:0.00,1.00:0.00,1.00:0.00,0.96:60,60:19.8,41.2:0,0:0,0:35,34:115,110:16,21:-,NM_138995.4(MYO3B) c.1792-101A>C:-,0.49:-,NOT_FOUND 2 171256825 . G . . NT END=171257990;NT GT ./. 2 171256930 rs75576103 T A 20 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=266;NP=400;NP=5;Gene=MYO3B/NM_001083615.3/0;CC=c.1918+106T>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1918+106T>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,T,I:29:4:7:0:8,16,5:231,504,216:20.14,0.00,13.40:1.46,0.00,1.37:18.67,0.00,12.04:0.98,0.00,0.00:0.70,0.00,0.00:0.98,0.00,0.00:60,60,60:81.5,9.2,77.6:0,0,2:0,0,0:65,124,104:84,22,46:26,20,25:NM_138995.4(MYO3B) c.1918+106T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 171257945 rs7568041 A T 125 nt VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.7752,C/.,T/0.2248;Gene=MYO3B/NM_001083615.3/0;CC=c.1919-46A>T;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.1919-46A>T;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:60:55:0:0:20,1,1,38:651,12,24,1236:0.00,0.09,0.99,125.45:0.00,0.12,1.02,97.81:0.00,-0.03,-0.03,27.64:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:2.9,167.0,147.0,35.2:0,0,0,0:0,0,0,0:55,137,56,48:95,14,91,99:35,0,0,20:-,NM_138995.4(MYO3B) c.1919-46A>T:-,0.24:-,0.250652 2 171258202 . G . . NT END=171259357;NT GT ./. 2 171258312 rs78393302 C CTTTTT 20 idl,nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6312,T/0.3688;NP=1;NP=8;PC=0.139;Gene=MYO3B/NM_001083615.3/0;CC=c.2129+126_2129+127insTTTTT;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2129+126_2129+127insTTTTT;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T,CTTTTT:26:1:12:1:14,5,7:413,130,373:0.00,10.38,19.57:0.00,-0.08,-0.11:0.00,10.45,19.68:0.00,0.00,0.95:0.00,0.00,0.48:0.00,0.00,1.00:60,60,60:9.0,68.8,43.4:0,0,5:0,0,0:132,4,81:15,144,65:12,4,9:-,NM_138995.4(MYO3B) c.2129+111_2129+112insTTTTT:-,NOT_FOUND:-,NOT_FOUND 2 171259506 . G . . NT END=171260756;NT GT ./. 2 171260708 rs10930425 C A 248 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.2196,A/0.7804;Gene=MYO3B/NM_001083615.3/0;CC=c.2278-49C>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2278-49C>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:71:66:0:0:71:2146:248.15:203.98:44.17:1.00:1.00:1.00:60:74.4:0:0:43:101:24:NM_138995.4(MYO3B) c.2278-49C>A,NM_138995.4(MYO3B) c.2278-49C>A:0.79,0.79:0.84465,0.84465 2 171260787 rs6736609 G A 374 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.2198,A/0.7802;Gene=MYO3B/NM_001083615.3/0;CC=c.2308G>A;ProtCh=p.V770I;VC=Missense;Gene=MYO3B/NM_138995.4/1;CC=c.2308G>A;ProtCh=p.V770I;VC=Missense;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:104:81:0:0:104:3245:373.89:224.46:149.43:1.00:1.00:1.00:60:79.9:0:0:70:76:38:NM_138995.4(MYO3B) c.2308G>A (p.Val770Ile),NM_138995.4(MYO3B) c.2308G>A (p.Val770Ile):0.79,0.79:0.844545,0.844545 2 171260820 rs6751520 T C 459 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.219,C/0.781;PC=0.023;Gene=MYO3B/NM_001083615.3/0;CC=c.2341T>C;ProtCh=p.L781=;VC=Silent;Gene=MYO3B/NM_138995.4/1;CC=c.2341T>C;ProtCh=p.L781=;VC=Silent;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:122:86:0:0:122:4010:459.06:241.09:217.97:1.00:1.00:1.00:60:69.8:0:0:58:90:35:NM_138995.4(MYO3B) c.2341T>C (p.(=)),NM_138995.4(MYO3B) c.2341T>C (p.(=)):0.79,0.79:0.844871,0.844871 2 171260911 . G . . NT END=171262054;NT GT ./. 2 171261021 rs6751781 T G 129 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.1112,G/0.8888;Gene=MYO3B/NM_001083615.3/0;CC=c.2431+111T>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2431+111T>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:3:0:0:34:1131:129.31:9.09:120.22:1.00:1.00:1.00:60:34.2:0:0:117:34:29:NM_138995.4(MYO3B) c.2431+111T>G,NM_138995.4(MYO3B) c.2431+111T>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 171261190 rs1344941 T C 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1074,C/0.8926;PC=0.003;Gene=MYO3B/NM_001083615.3/0;CC=c.2431+280T>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2431+280T>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:308:35.09:0.00:35.09:1.00:0.00:1.00:60:44.3:0:0:115:35:5:NM_138995.4(MYO3B) c.2431+280T>C,NM_138995.4(MYO3B) c.2431+280T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 171262144 . G . . NT END=171264224;NT GT ./. 2 171264091 rs58632651 T TGCTCTGGATATGAAA 68 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.1577,TCTGGATATGAAA/.,TGCTCTGGATATGAAA/0.6705,TGCTCTGGATATGAAAGCTCTGGATATGAAA/0.1717;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.1577,TGCTCTGGATATGAAA/0.6705;NP=5;PC=0.015;Gene=MYO3B/NM_001083615.3/0;CC=c.2521-130_2521-116dupCTGGATATGAAAGCT;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2521-130_2521-116dupCTGGATATGAAAGCT;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TGCTCTGGATATGAAA:30:30:21:0:9,21:239,658:0.00,67.93:0.00,67.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.6,5.1:0,0:0,0:120,39:19,112:8,13:-,NM_138995.4(MYO3B) c.2521-134_2521-133insGCTCTGGATATGAAA:-,NOT_FOUND:-,NOT_FOUND 2 171264355 . G . . NT END=171300476;NT GT ./. 2 171264482 rs1561393 G C 134 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.3638,C/0.6362;Gene=MYO3B/NM_001083615.3/0;CC=c.2650+128G>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2650+128G>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:40:3:0:0:40:1153:134.23:9.04:125.18:1.00:1.00:1.00:60:32.2:0:0:123:27:23:NM_138995.4(MYO3B) c.2650+128G>C,NM_138995.4(MYO3B) c.2650+128G>C:0.66,0.66:NOT_FOUND,NOT_FOUND 2 171300557 . G . . NT END=171319877;NT GT ./. 2 171300575 rs17426211 C A 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.7853,A/0.2147;Gene=MYO3B/NM_001083615.3/0;CC=c.2730+19C>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2730+19C>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:15:0:0:15,11:472,332:46.68,0.00:16.04,0.00:30.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,11.5:0,0:0,0:98,117:53,34:26,13:NM_138995.4(MYO3B) c.2730+19C>A,-:0.24,-:0.259342,- 2 171300648 rs4667639 T A 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.5557,A/0.4443;Gene=MYO3B/NM_001083615.3/0;CC=c.2730+92T>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2730+92T>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,T:15:1:0:0:9,6:258,190:25.65,0.00:1.88,0.00:23.77,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:59.4,0.0:0,0:0,0:103,118:47,31:42,21:NM_138995.4(MYO3B) c.2730+92T>A,-:0.44,-:NOT_FOUND,- 2 171319956 . G . . NT END=171323015;NT GT ./. 2 171319997 rs12477518 A C 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.645,C/0.355,T/.;Gene=MYO3B/NM_001083615.3/0;CC=c.2808+42A>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.2808+42A>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:36:14:0:0:19,17:633,515:0.00,48.71:0.00,16.37:0.00,32.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,32.0:0,0:0,0:98,106:53,45:13,21:-,NM_138995.4(MYO3B) c.2808+42A>C:-,0.38:-,0.490709 2 171323222 . G . . NT END=171355101;NT GT ./. 2 171323328 rs4359605 T C 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6206,C/0.3794;Gene=MYO3B/NM_001083615.3/0;CC=c.3014+107T>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3014+107T>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:1:0:0:13,20:452,628:41.80,0.00:-0.22,0.00:42.01,0.00:1.00,0.00:0.60,0.00:1.00,0.00:60,60:42.3,2.8:0,0:0,0:126,100:24,51:14,28:NM_138995.4(MYO3B) c.3014+107T>C,-:0.42,-:NOT_FOUND,- 2 171323416 rs2164963 A C 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7867,C/0.2133;Gene=MYO3B/NM_001083615.3/0;CC=c.3014+195A>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3014+195A>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:A,C:12:0:0:0:6,6:174,214:0.00,20.67:0.00,0.00:0.00,20.67:0.00,0.98:0.00,0.00:0.00,0.98:60,60:5.3,58.3:0,0:0,0:99,39:50,111:7,22:-,NM_138995.4(MYO3B) c.3014+195A>C:-,0.23:-,NOT_FOUND 2 171341930 rs7606319 C G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;Gene=MYO3B/NM_001083615.3/0;CC=c.3015-13172C>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3015-13172C>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:143:16.21:8.05:8.15:1.00:1.00:1.00:60:41.2:0:0:67:67:35:NM_138995.4(MYO3B) c.3015-13172C>G,NM_138995.4(MYO3B) c.3015-13172C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 171355198 rs6761297 A G 210 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.02077,G/0.9792;PC=0.218;Gene=MYO3B/NM_001083615.3/0;CC=c.3111A>G;ProtCh=p.V1037=;VC=Silent;Gene=MYO3B/NM_138995.4/1;CC=c.3111A>G;ProtCh=p.V1037=;VC=Silent;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:147:C,G:56:30:0:0:1,55:10,1842:0.17,209.93:0.17,76.44:0.00,133.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,43.0:0,0:0,0:150,103:1,47:0,17:NM_138995.4(MYO3B) c.3111A>G (p.(=)),NM_138995.4(MYO3B) c.3111A>G (p.(=)):0.98,0.98:0.983392,0.983392 2 171355214 . G . . NT END=171356155;NT GT ./. 2 171355329 rs6733198 G C 75 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.09405,C/0.906;PC=0.007;Gene=MYO3B/NM_001083615.3/0;CC=c.3126+116G>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3126+116G>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:0:0:0:20:659:75.44:0.00:75.44:1.00:0.00:1.00:60:53.9:0:0:106:43:18:NM_138995.4(MYO3B) c.3126+116G>C,NM_138995.4(MYO3B) c.3126+116G>C:0.92,0.92:NOT_FOUND,NOT_FOUND 2 171355426 rs6748052 T C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.09445,C/0.9056;Gene=MYO3B/NM_001083615.3/0;CC=c.3126+213T>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3126+213T>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:119:13.80:0.00:13.80:1.00:0.00:1.00:60:59.5:0:0:90:60:28:NM_138995.4(MYO3B) c.3126+213T>C,NM_138995.4(MYO3B) c.3126+213T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 2 171356051 rs67244303 TTATTTA T 20 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=TTATTTA/0.6268,T/0.3732;DB;DBA=NA;PAF=TTATTTA/0.6268,T/0.3732;NP=1302;Gene=MYO3B/NM_001083615.3/0;CC=c.3127-101_3127-96delTTATAT;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3127-101_3127-96delTTATAT;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTATTTA,T:16:15:0:7:9,7:279,215:0.00,20.08:0.00,20.33:0.00,-0.25:0.00,0.98:0.00,1.00:0.00,0.62:60,60:20.2,11.3:0,0:0,0:28,62:123,89:23,32:-,NM_138995.4(MYO3B) c.3127-104_3127-99delTATTTA:-,0.37:-,NOT_FOUND 2 171356274 rs10185178 G A 302 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.09665,A/0.9034;PC=1.000;Gene=MYO3B/NM_001083615.3/0;CC=c.3245G>A;ProtCh=p.R1082K;VC=Missense;Gene=MYO3B/NM_138995.4/1;CC=c.3245G>A;ProtCh=p.R1082K;VC=Missense;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:52:0:1:78:2651:302.28:128.04:174.24:1.00:1.00:1.00:60:42.9:0:0:57:81:33:NM_138995.4(MYO3B) c.3245G>A (p.Arg1082Lys),NM_138995.4(MYO3B) c.3245G>A (p.Arg1082Lys):0.92,0.92:0.9169,0.9169 2 171356319 . G . . NT END=171358294;NT GT ./. 2 171356423 rs9752383 T C 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4149,C/0.5851;Gene=MYO3B/NM_001083615.3/0;CC=c.3289+105T>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3289+105T>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:4:0:0:9,10:272,341:25.76,0.00:5.14,0.00:20.62,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:45.9,35.1:0,0:0,0:95,69:56,81:32,36:NM_138995.4(MYO3B) c.3289+105T>C,-:0.5,-:NOT_FOUND,- 2 171356492 rs6737166 C G 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.09605,G/0.904;Gene=MYO3B/NM_001083615.3/0;CC=c.3289+174C>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3289+174C>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:351:40.71:0.00:40.71:1.00:0.00:1.00:60:56.1:0:0:112:39:20:NM_138995.4(MYO3B) c.3289+174C>G,NM_138995.4(MYO3B) c.3289+174C>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 171358211 rs7593940 G A 84 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.09405,A/0.906;PC=1.000;Gene=MYO3B/NM_001083615.3/0;CC=c.3289+1893G>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3290-84G>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:21:0:0:24:727:84.08:65.79:18.29:1.00:1.00:1.00:60:40.5:0:0:40:109:33:NM_138995.4(MYO3B) c.3290-84G>A,NM_138995.4(MYO3B) c.3290-84G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 2 171358376 . G . . NT END=171371430;NT GT ./. 2 171358474 rs7608168 T A 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1384,A/0.8616;Gene=MYO3B/NM_001083615.3/0;CC=c.3289+2156T>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3370+99T>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:2:0:0:15:475:54.62:4.03:50.59:1.00:1.00:1.00:60:40.9:0:0:122:29:21:NM_138995.4(MYO3B) c.3370+99T>A,NM_138995.4(MYO3B) c.3370+99T>A:0.88,0.88:NOT_FOUND,NOT_FOUND 2 171371533 . G . . NT END=171375947;NT GT ./. 2 171376051 . G . . NT END=171399415;NT GT ./. 2 171399477 . G . . NT END=171400401;NT GT ./. 2 171400499 . G . . NT END=171503418;NT GT ./. 2 171419541 rs56861648 T TACAC 19 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.491,TAC/.,TACACAC/0.509;DB;DBA=NA;PAF=NA;NP=12;NP=26;NP=4;NP=5;PC=0.001;Gene=MYO3B/NM_001083615.3/0;CC=c.3652+19075_3652+19076insACAC;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3733+19075_3733+19076insACAC;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:T,TACAC:9:8:8:0:3,6:101,253:0.00,18.95:0.00,6.20:0.00,12.75:0.00,0.98:0.00,1.00:0.00,0.98:60,60:4.0,26.2:0,2:0,0:132,29:19,92:0,9:-,NM_138995.4(MYO3B) c.3733+19043_3733+19044insACAC:-,NOT_FOUND:-,NOT_FOUND 2 171493467 rs62168251 C CGT 17 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=37;NP=69;NP=8;Gene=MYO3B/NM_001083615.3/0;CC=c.3653-14639_3653-14638insGT;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3734-14639_3734-14638insGT;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,CGT:7:7:5:0:2,5:71,164:0.00,16.97:0.00,11.89:0.00,5.07:0.00,0.98:0.00,0.98:0.00,0.99:60,60:0.0,4.2:0,0:0,0:86,29:65,105:29,17:-,NM_138995.4(MYO3B) c.3734-14671_3734-14670insGT:-,NOT_FOUND:-,NOT_FOUND 2 171503330 rs6761488 C T 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8367,T/0.1633;Gene=MYO3B/NM_001083615.3/0;CC=c.3653-4808C>T;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3734-4808C>T;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:17:0:0:10,8:343,223:0.00,20.72:0.00,17.88:0.00,2.84:0.00,0.99:0.00,1.00:0.00,0.96:60,60:1.2,47.1:0,0:0,0:40,63:111,88:39,39:-,NM_138995.4(MYO3B) c.3734-4808C>T:-,0.18:-,NOT_FOUND 2 171503450 . G . . NT END=171508137;NT GT ./. 2 171507896 rs139850259 CCTGGACTGCTGAT C 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=27;PC=0.004;Gene=MYO3B/NM_001083615.3/0;CC=c.3653-241_3653-229delCTGGACTGCTGAT;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3734-241_3734-229delCTGGACTGCTGAT;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:CCTGGACTGCTGAT,C:6:6:0:3:3,3:93,98:0.00,9.43:0.00,9.43:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,15.3:0,0:0,0:47,84:104,67:9,8:-,NM_138995.4(MYO3B) c.3734-241_3734-229delCTGGACTGCTGAT:-,NOT_FOUND:-,NOT_FOUND 2 171507978 rs76308138 T G 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8766,G/0.1234;PC=0.148;Gene=MYO3B/NM_001083615.3/0;CC=c.3653-160T>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3734-160T>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:G,T:13:13:0:0:4,9:138,271:12.23,0.00:12.23,0.00:0.00,0.00:0.79,0.00:0.79,0.00:0.00,0.00:60,60:61.0,2.3:0,0:0,0:28,38:122,113:14,23:NM_138995.4(MYO3B) c.3734-160T>G,-:0.13,-:NOT_FOUND,- 2 171508056 rs12999176 T C 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.876,C/0.124;PC=0.001;Gene=MYO3B/NM_001083615.3/0;CC=c.3653-82T>C;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3734-82T>C;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:29:0:0:11,19:375,569:34.19,0.00:32.76,0.00:1.42,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:46.0,6.1:0,0:0,0:67,40:84,111:19,28:NM_138995.4(MYO3B) c.3734-82T>C,-:0.13,-:NOT_FOUND,- 2 171508245 . G . . NT END=171508617;NT GT ./. 2 171508262 rs6724627 G A 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.5881,A/0.4119;PC=1.000;Gene=MYO3B/NM_001083615.3/0;CC=c.3759+18G>A;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3840+18G>A;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:61:23:0:0:25,1,35:795,10,1098:73.75,-0.09,0.00:15.32,-0.07,0.00:58.42,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.2,83.0,12.3:0,0,0:0,0,0:82,110,92:68,41,59:28,0,35:NM_138995.4(MYO3B) c.3840+18G>A,-:0.4,-:0.38684,- 2 171508490 rs397986626 CA C 80 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3366;PC=1.000;Gene=MYO3B/NM_001083615.3/0;CC=c.3760-120delA;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3841-120delA;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:CA,C:25:22:0:23:2,23:66,722:0.00,80.13:0.00,73.74:0.00,6.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,12.8:0,0:0,0:144,63:5,88:1,31:-,NM_138995.4(MYO3B) c.3841-127delA:-,NOT_FOUND:-,NOT_FOUND 2 171508665 . G . . NT END=171509492;NT GT ./. 2 171509244 rs78037881 C G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8772,G/0.1228;PC=0.001;Gene=MYO3B/NM_001083615.3/0;CC=c.3807-249C>G;VC=Intron;Gene=MYO3B/NM_138995.4/1;CC=c.3888-249C>G;VC=Intron;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,G:14:14:0:0:8,6:227,184:0.00,17.10:0.00,17.10:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:24.4,32.3:0,0:0,0:82,44:68,107:28,28:-,NM_138995.4(MYO3B) c.3888-249C>G:-,0.13:-,NOT_FOUND 2 171509632 . A . . NT END=171572022;NT GT ./. 2 171509826 rs78800296 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8766,G/0.1234;PC=0.001;Gene=MYO3B/NM_001083615.3/0;CC=c.*195A>G;VC=3UTR;Gene=MYO3B/NM_138995.4/1;CC=c.*195A>G;VC=3UTR;Gene=MYO3B/NR_045682.1/0;VC=NonCoding;Gene=MYO3B/NR_045683.1/0;VC=NonCoding;Gene=MYO3B/NR_045684.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,G:13:0:0:0:7,6:237,171:0.00,16.04:0.00,0.00:0.00,16.04:0.00,0.97:0.00,0.00:0.00,0.97:60,60:3.3,43.2:0,0:0,0:120,139:31,10:29,8:-,NM_138995.4(MYO3B) c.*195A>G:-,0.13:-,NOT_FOUND 2 171572074 . G . . NT END=171572094;NT GT ./. 2 171572579 . G . . NT END=171572768;NT GT ./. 2 171573915 . G . . NT END=171633919;NT GT ./. 2 171633936 . G . . NT END=171634153;NT GT ./. 2 171634191 . G . . NT END=171636302;NT GT ./. 2 171636399 . G . . NT END=171638750;NT GT ./. 2 171638900 . G . . NT END=171641155;NT GT ./. 2 171641344 . G . . NT END=171649372;NT GT ./. 2 171649431 . G . . NT END=171654550;NT GT ./. 2 171654321 rs7601631 A G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ERICH2/NM_001290030.1/1;CC=c.1115-230A>G;VC=Intron;Gene=ERICH2/NM_001289947.1/0;CC=c.275-230A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:98:11.66:11.66:0.00:1.00:1.00:0.00:60:55.5:0:0:48:102:41:XM_209489.7(ERICH2) c.275-230A>G,XM_209489.7(ERICH2) c.275-230A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 171654623 . G . . NT END=171655279;NT GT ./. 2 171654663 rs2287111 A C 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.2951,C/0.7049;PC=0.016;Gene=ERICH2/NM_001290030.1/1;CC=c.1186+41A>C;VC=Intron;Gene=ERICH2/NM_001289947.1/0;CC=c.346+41A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:10:0:0:18:583:66.87:28.28:38.59:1.00:1.00:1.00:60:44.7:0:0:121:30:22:XM_209489.7(ERICH2) c.346+41A>C,XM_209489.7(ERICH2) c.346+41A>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 171654773 rs2287110 G C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2963,C/0.7037;Gene=ERICH2/NM_001290030.1/1;CC=c.1186+151G>C;VC=Intron;Gene=ERICH2/NM_001289947.1/0;CC=c.346+151G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:162:18.99:0.00:18.99:1.00:0.00:1.00:60:33.0:0:0:78:72:27:XM_209489.7(ERICH2) c.346+151G>C,XM_209489.7(ERICH2) c.346+151G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 171655405 . G . . NT END=171675101;NT GT ./. 2 171675184 . G . . NT END=171678596;NT GT ./. 2 171675381 rs2270334 A G 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3808,G/0.6192;Gene=GAD1/NM_013445.3/0;CC=c.82+198A>G;VC=Intron;Gene=GAD1/NM_000817.2/1;CC=c.82+198A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,G:13:0:0:0:1,12:22,410:0.00,45.20:0.00,0.00:0.00,45.20:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,40.6:0,0:0,0:76,119:74,31:0,16:NM_000817.2(GAD1) c.82+198A>G,NM_000817.2(GAD1) c.82+198A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 171678379 rs2241165 C T 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3818,T/0.6182;Gene=GAD1/NM_013445.3/0;CC=c.83-218C>T;VC=Intron;Gene=GAD1/NM_000817.2/1;CC=c.83-218C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:55.5:0:0:34:114:8:NM_000817.2(GAD1) c.83-218C>T,NM_000817.2(GAD1) c.83-218C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 2 171678625 rs769404 T C 247 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.6428,C/0.3572;PC=0.887;Gene=GAD1/NM_013445.3/0;CC=c.111T>C;ProtCh=p.H37=;VC=Silent;Gene=GAD1/NM_000817.2/1;CC=c.111T>C;ProtCh=p.H37=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:162:C,T:69:49:0:0:68,1:2166,35:246.69,0.00:119.89,0.00:126.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,0.0:0,0:0,0:91,46:49,103:31,0:NM_000817.2(GAD1) c.111T>C (p.(=)),NM_000817.2(GAD1) c.111T>C (p.(=)):0.36,0.36:0.33805,0.33805 2 171678660 . G . . NT END=171685984;NT GT ./. 2 171686144 . G . . NT END=171687459;NT GT ./. 2 171687703 . G . . NT END=171693302;NT GT ./. 2 171693394 . G . . NT END=171699078;NT GT ./. 2 171699270 . T . . NT END=171700554;NT GT ./. 2 171700668 . G . . NT END=171702015;NT GT ./. 2 171702132 . G . . NT END=171702215;NT GT ./. 2 171702296 . G . . NT END=171702518;NT GT ./. 2 171702574 . G . . NT END=171704185;NT GT ./. 2 171704303 . G . . NT END=171705795;NT GT ./. 2 171705861 . G . . NT END=171709223;NT GT ./. 2 171709303 . G . . NT END=171710382;NT GT ./. 2 171710533 . G . . NT END=171713527;NT GT ./. 2 171713636 . G . . NT END=171715313;NT GT ./. 2 171715404 . G . . NT END=171716218;NT GT ./. 2 171716393 . T . . NT END=171785850;NT GT ./. 2 171785914 . G . . NT END=171793132;NT GT ./. 2 171786088 rs3821090 C T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8734,T/0.1266;PC=0.001;Gene=GORASP2/NM_001201428.1/1;CC=c.-142+1018C>T;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.63+175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,G,T:13:0:0:0:8,1,4:236,13,133:0.00,0.45,11.89:0.00,0.00,0.00:0.00,0.45,11.89:0.00,0.00,0.79:0.00,0.00,0.00:0.00,0.00,0.79:60,60,60:33.4,56.0,33.2:0,0,0:0,0,0:96,3,99:54,148,52:19,0,17:-,NM_015530.4(GORASP2) c.63+175C>T:-,0.16:-,NOT_FOUND 2 171786169 rs2676158 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.119,G/0.881;Gene=GORASP2/NM_001201428.1/1;CC=c.-142+1099A>G;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.63+256A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:48.8:0:0:95:54:14:NM_015530.4(GORASP2) c.63+256A>G,NM_015530.4(GORASP2) c.63+256A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 171793238 . g . . NT END=171804859;NT GT ./. 2 171793357 rs35123411 C A 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8752,A/0.1248;PC=0.005;Gene=GORASP2/NM_001201428.1/1;CC=c.-142+8287C>A;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.63+7444C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,C:9:0:0:0:6,3:159,100:16.21,0.00:0.00,0.00:16.21,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:65.2,0.0:0,0:0,0:58,110:93,41:15,26:NM_015530.4(GORASP2) c.63+7444C>A,-:0.15,-:NOT_FOUND,- 2 171804941 . G . . NT END=171806023;NT GT ./. 2 171805785 rs3770438 A G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.478,G/0.522;Gene=GORASP2/NM_001201428.1/1;CC=c.-60-264A>G;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.145-264A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:5:5:0:0:2,3:61,104:0.00,10.37:0.00,10.37:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:17.5,61.0:0,0:0,0:56,55:95,96:55,8:-,NM_015530.4(GORASP2) c.145-264A>G:-,0.53:-,NOT_FOUND 2 171805870 rs2676143 G A 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1232,A/0.8768;Gene=GORASP2/NM_001201428.1/1;CC=c.-60-179G>A;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.145-179G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:342:38.97:38.97:0.00:1.00:1.00:0.00:60:42.2:0:0:52:98:20:NM_015530.4(GORASP2) c.145-179G>A,NM_015530.4(GORASP2) c.145-179G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 2 171806253 . G . . NT END=171806713;NT GT ./. 2 171806801 . G . . NT END=171807837;NT GT ./. 2 171807969 . G . . NT END=171811159;NT GT ./. 2 171811293 . G . . NT END=171812945;NT GT ./. 2 171813070 . G . . NT END=171818172;NT GT ./. 2 171813252 rs71903093 TAAA T 7 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TAAA/0.3115,T/0.6885;DB;DBA=NA;PAF=TAAA/0.3115,T/0.6885;NP=372;PC=0.002;Gene=GORASP2/NM_001201428.1/1;CC=c.619+193_619+195delAAA;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.823+193_823+195delAAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:TAAA,I,T:11:0:2:3:6,2,3:167,65,79:0.00,5.46,6.81:0.00,0.00,0.00:0.00,5.46,6.81:0.00,0.00,0.60:0.00,0.00,0.00:0.00,0.00,0.60:60,60,60:15.8,0.0,0.0:0,0,0:0,0,0:138,118,80:10,32,71:10,15,9:-,NM_015530.4(GORASP2) c.823+184_823+186delAAA:-,NOT_FOUND:-,NOT_FOUND 2 171818260 . G . . NT END=171819348;NT GT ./. 2 171818289 rs2557804 G A 144 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3466;Gene=GORASP2/NM_001201428.1/1;CC=c.706+30G>A;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.910+30G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:A:39:18:0:0:39:1252:143.79:43.38:100.41:1.00:1.00:1.00:60:39.6:0:0:101:49:25:NM_015530.4(GORASP2) c.910+30G>A,NM_015530.4(GORASP2) c.910+30G>A:1,1:NOT_FOUND,NOT_FOUND 2 171819457 . G . . NT END=171822299;NT GT ./. 2 171819865 rs13011011 A G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8798,G/0.1202;PC=0.001;Gene=GORASP2/NM_001201428.1/1;CC=c.814+409A>G;VC=Intron;Gene=GORASP2/NM_015530.4/0;CC=c.1018+409A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:4:3:0:0:1,3:32,103:0.00,10.75:0.00,4.88:0.00,5.88:0.00,0.85:0.00,0.99:0.00,0.95:60,60:12.0,38.7:0,0:0,0:107,91:43,42:0,18:-,NM_015530.4(GORASP2) c.1018+409A>G:-,0.15:-,NOT_FOUND 2 171822466 rs4668356 C T 464 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=NA;PC=0.174;Gene=GORASP2/NM_001201428.1/1;CC=c.981C>T;ProtCh=p.S327=;VC=Silent;Gene=GORASP2/NM_015530.4/0;CC=c.1185C>T;ProtCh=p.S395=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:125:79:0:0:125:4048:464.12:227.01:237.12:1.00:1.00:1.00:60:43.2:0:0:61:85:29:NM_015530.4(GORASP2) c.1185C>T (p.(=)),NM_015530.4(GORASP2) c.1185C>T (p.(=)):0.86,0.86:0.817161,0.817161 2 171822641 . C . . NT END=171850289;NT GT ./. 2 171850178 rs71008739 TAAA T,TAAAAA 20 idl,nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:120:TAAA,TAAAAA,T:14:23:8:13:2,5,7:54,250,402:0.00,15.16,20.41:0.00,15.16,20.41:0.00,0.00,0.00:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,0.00:60,60,60:46.5,40.2,36.9:0,3,6:0,0,0:106,50,54:44,101,97:14,36,18:NM_012290.4(TLK1) c.*90T[19],NM_012290.4(TLK1) c.*90T[24]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 171850467 . C . . NT END=171853162;NT GT ./. 2 171853271 . C . . NT END=171854221;NT GT ./. 2 171854334 . C . . NT END=171862656;NT GT ./. 2 171862578 . TA T 7 rn VT=DEL;SST=Single;DP=23;NP=29;PC=0.868;Gene=TLK1/NM_001136555.1/0;CC=c.1616+78delT;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.1904+78delT;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.1760+78delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:G,TA,I,T:23:22:1:3:1,18,1,3:10,553,33,94:-0.02,0.00,2.07,7.09:0.04,0.00,2.13,5.82:-0.06,0.00,-0.06,1.26:0.00,0.00,0.00,0.47:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.54:60,60,60,60:157.0,7.0,11.0,0.0:0,0,0,0:0,0,0,0:98,42,35,34:53,102,116,91:0,33,0,27:-,NM_012290.4(TLK1) c.1904+78delT:-,NOT_FOUND:-,NOT_FOUND 2 171862793 . C . . NT END=171862983;NT GT ./. 2 171863154 . C . . NT END=171863309;NT GT ./. 2 171863400 . C . . NT END=171863481;NT GT ./. 2 171863574 . C . . NT END=171867882;NT GT ./. 2 171863724 rs2557795 C T 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.05052,T/0.9495;PC=0.012;Gene=TLK1/NM_001136555.1/0;CC=c.1129-151G>A;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.1417-151G>A;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.1273-151G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:371:42.78:0.00:42.78:1.00:0.00:1.00:60:35.5:0:0:113:37:27:NM_012290.4(TLK1) c.1417-151G>A,NM_012290.4(TLK1) c.1417-151G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 171867965 . C . . NT END=171871360;NT GT ./. 2 171871192 rs2247657 A G 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.04892,G/0.9511;PC=0.095;Gene=TLK1/NM_001136555.1/0;CC=c.1046+169T>C;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.1334+169T>C;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.1190+169T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:243:27.64:27.64:0.00:1.00:1.00:0.00:60:73.1:0:0:87:64:26:NM_012290.4(TLK1) c.1334+169T>C,NM_012290.4(TLK1) c.1334+169T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 171871459 . C . . NT END=171884848;NT GT ./. 2 171872243 rs2723249 C A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=245;PC=0.044;Gene=TLK1/NM_001136555.1/0;CC=c.949-785G>T;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.1237-785G>T;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.1093-785G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:140:16.35:7.85:8.49:1.00:1.00:1.00:60:75.8:3:0:109:42:13:NM_012290.4(TLK1) c.1237-785G>T,NM_012290.4(TLK1) c.1237-785G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 171884916 . C . . NT END=171902683;NT GT ./. 2 171902604 rs6751462 A T 94 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.08846,T/0.9115;PC=0.970;Gene=TLK1/NM_001136555.1/0;CC=c.881+80T>A;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.1169+80T>A;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.1025+80T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:25:0:0:25:820:93.92:93.92:0.00:1.00:1.00:0.00:60:39.2:0:0:48:103:32:NM_012290.4(TLK1) c.1169+80T>A,NM_012290.4(TLK1) c.1169+80T>A:0.92,0.92:NOT_FOUND,NOT_FOUND 2 171902873 . C . . NT END=171906323;NT GT ./. 2 171906461 . C . . NT END=171906573;NT GT ./. 2 171906469 rs3217296 GA G 128 nt VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=GA/0.8732,G/0.1268;NP=1455;Gene=TLK1/NM_001136555.1/0;CC=c.556-10delT;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.844-10delT;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.700-10delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:77:38:0:41:36,41:1188,1313:0.00,127.75:0.00,46.94:0.00,80.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,2.7:0,0:0,0:70,78:78,67:39,30:-,NM_012290.4(TLK1) c.844-10delT:-,0.16:-,NOT_FOUND 2 171906685 . C . . NT END=171910270;NT GT ./. 2 171910313 rs11553951 C T 70 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.8876,T/0.1124;PC=1.000;Gene=TLK1/NM_001136555.1/0;CC=c.402G>A;ProtCh=p.Q134=;VC=Silent;Gene=TLK1/NM_012290.4/1;CC=c.690G>A;ProtCh=p.Q230=;VC=Silent;Gene=TLK1/NM_001136554.1/0;CC=c.546G>A;ProtCh=p.Q182=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:35:0:0:24,23:773,736:0.00,70.38:0.00,36.03:0.00,34.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,42.8:0,0:0,0:63,64:78,85:21,19:-,NM_012290.4(TLK1) c.690G>A (p.(=)):-,0.14:-,0.197401 2 171910364 . C . . NT END=171911592;NT GT ./. 2 171911683 . C . . NT END=171912980;NT GT ./. 2 171912911 rs17283147 A T 33 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3369,T/0.6631;PC=0.002;Gene=TLK1/NM_001136555.1/0;CC=c.261+70T>A;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.549+70T>A;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.405+70T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:19:19:0:0:8,11:265,331:0.00,32.71:0.00,31.31:0.00,1.39:0.00,1.00:0.00,1.00:0.00,0.93:60,60:3.8,45.7:0,0:0,0:52,21:98,119:28,14:-,NM_012290.4(TLK1) c.549+70T>A:-,0.65:-,NOT_FOUND 2 171913077 . C . . NT END=171914660;NT GT ./. 2 171913207 rs3083754 CAA C 20 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=315;PC=0.674;Gene=TLK1/NM_001136555.1/0;CC=c.166-133_166-132delTT;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.454-133_454-132delTT;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.310-133_310-132delTT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:CAA,C:8:0:0:8:2,6:20,222:0.00,20.01:0.00,0.00:0.00,20.01:0.00,0.99:0.00,0.00:0.00,0.99:60,60:17.5,11.5:0,1:0,0:95,85:56,65:30,9:-,NM_012290.4(TLK1) c.454-133_454-132delTT:-,NOT_FOUND:-,NOT_FOUND 2 171914708 . C . . NT END=171916433;NT GT ./. 2 171916244 rs3731991 A G 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3409,G/0.6591;Gene=TLK1/NM_001136555.1/0;CC=c.118+1347T>C;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.406+1347T>C;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.262+1347T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:5:5:0:0:1,4:31,110:0.00,11.79:0.00,11.79:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,72.8:0,0:0,0:88,79:61,72:0,45:-,NM_012290.4(TLK1) c.406+1347T>C:-,0.65:-,NOT_FOUND 2 171916371 rs3731990 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.485,T/0.515;PC=0.002;Gene=TLK1/NM_001136555.1/0;CC=c.118+1220G>A;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.406+1220G>A;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.262+1220G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:9,9:279,303:0.00,29.18:0.00,29.18:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.3,33.7:0,0:0,0:59,74:90,76:32,28:-,NM_012290.4(TLK1) c.406+1220G>A:-,0.52:-,NOT_FOUND 2 171916497 . c . . NT END=171917590;NT GT ./. 2 171916664 rs2676130 A T 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.03934,T/0.9607;PC=0.001;Gene=TLK1/NM_001136555.1/0;CC=c.118+927T>A;VC=Intron;Gene=TLK1/NM_012290.4/1;CC=c.406+927T>A;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.262+927T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:3:0:0:20:592:68.70:8.04:60.66:1.00:1.00:1.00:60:46.2:0:0:107:38:31:NM_012290.4(TLK1) c.406+927T>A,NM_012290.4(TLK1) c.406+927T>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 171917667 . C . . NT END=171923351;NT GT ./. 2 171923484 . A . . NT END=171938149;NT GT ./. 2 171923670 rs397873311 G GT 20 idl,rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.4341,GT/0.5659,GTT/.;DB;DBA=NA;PAF=G/0.4341,GT/0.5659;NP=1;NP=99;PC=0.001;Gene=TLK1/NM_012290.4/1;CC=c.331-6005_331-6004insA;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.187-6005_187-6004insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:15:0:10:0:8,7:252,309:0.00,20.06:0.00,0.00:0.00,20.06:0.00,0.98:0.00,0.00:0.00,0.98:60,60:29.1,11.9:0,3:0,0:134,76:16,74:8,25:-,NM_012290.4(TLK1) c.331-6005_331-6004insA:-,NOT_FOUND:-,NOT_FOUND 2 171937966 rs6761596 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6807,C/0.3193;PC=0.450;Gene=TLK1/NM_012290.4/1;CC=c.330+1325A>G;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.186+1325A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:7:7:0:0:4,3:137,98:13.53,0.00:13.53,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:34.2,0.0:0,0:0,0:58,45:92,106:9,45:NM_012290.4(TLK1) c.330+1325A>G,-:0.34,-:NOT_FOUND,- 2 171938219 . C . . NT END=171939290;NT GT ./. 2 171939363 . C . . NT END=171974248;NT GT ./. 2 171974368 . C . . NT END=172016799;NT GT ./. 2 171974424 rs142720641 TACAC T 21 sb,nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=TACAC/0.9792,T/0.02077;NP=214;Gene=TLK1/NM_012290.4/1;CC=c.140-61_140-58delGTGT;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.-5-61_-5-58delGTGT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TACAC,T:27:9:0:9:18,9:541,246:0.00,21.43:0.00,1.64:0.00,19.79:0.00,0.99:0.00,0.96:0.00,1.00:60,70:12.4,14.0:0,0:0,0:114,80:35,71:28,36:-,NM_012290.4(TLK1) c.140-61_140-58delGTGT:-,0.03:-,NOT_FOUND 2 172016727 . C CG 45 sb;idl,rn VT=INS;SST=Single;DP=43;NP=2;PC=0.023;Gene=TLK1/NM_012290.4/1;CC=c.139+72_139+73insC;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.-5-42361_-5-42360insC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,CG,D:42:40:15:4:1,20,3,15,3:33,572,85,482,121:1.94,0.00,5.85,44.82,6.25:1.97,0.00,2.84,43.68,5.41:-0.02,0.00,3.02,1.13,0.84:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.93,0.00:60,60,60,60,60:109.0,52.0,110.7,32.1,23.3:0,0,0,0,1:0,0,0,0,0:68,63,20,56,70:83,88,119,95,79:0,31,8,31,52:-,NM_012290.4(TLK1) c.139+72_139+73insC:-,NOT_FOUND:-,NOT_FOUND 2 172016756 rs113416007 G A 103 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.8458,A/0.1542;PC=0.003;Gene=TLK1/NM_012290.4/1;CC=c.139+44C>T;VC=Intron;Gene=TLK1/NM_001136554.1/0;CC=c.-5-42389C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:76:65:0:0:37,2,37:1073,23,1062:102.71,0.18,0.00:70.00,0.32,0.00:32.71,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.5,126.5,24.2:0,0,0:0,0,0:27,83,35:109,67,116:21,39,22:NM_012290.4(TLK1) c.139+44C>T,-:0.18,-:0.202788,- 2 172016939 . C . . NT END=172180681;NT GT ./. 2 172017105 . T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;PC=1.000;Gene=TLK1/NM_012290.4/1;CC=c.-167A>C;VC=5UTR;Gene=TLK1/NM_001136554.1/0;CC=c.-5-42738A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G,T:41:6:0:0:1,9,31:13,114,693:0.05,6.51,0.00:0.34,0.76,0.00:-0.30,5.76,0.00:0.00,0.99,0.00:0.00,0.75,0.00:0.00,1.00,0.00:60,60,60:13.0,93.1,29.0:0,0,0:0,0,0:140,86,115:10,58,27:0,27,24:NM_012290.4(TLK1) c.-167A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 172017476 rs546390551 A AGCG 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9946,AGCG/0.005391;NP=3;PC=1.000;Gene=TLK1/NM_001136554.1/0;CC=c.-5-43110_-5-43109insCGC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,AGCG:5:5:3:0:2,3:63,88:0.00,8.77:0.00,8.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,9.3:0,0:0,0:42,38:107,113:13,23:-,NM_012290.4(TLK1) c.-472-u67_-472-u66insCGC:-,NOT_FOUND:-,NOT_FOUND 2 172180771 rs10205459 A G 210 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.001797,A/0.9982;NP=961;PC=1.000;Gene=METTL8/NM_024770.3/1;CC=c.1135T>C;ProtCh=p.*379Rext*29;VC=Readthrough GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:G:61:46:0:0:61:1811:209.97:117.39:92.57:1.00:1.00:1.00:60:39.1:0:0:62:86:45:NM_024770.3(METTL8) c.=,NM_024770.3(METTL8) c.=:1,1:0.997591,0.997591 2 172180873 . C . . NT END=172182350;NT GT ./. 2 172181222 rs13000846 T G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8399,G/0.1601;PC=0.625;Gene=METTL8/NM_024770.3/1;CC=c.1034-350A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,G,T:4:0:0:0:1,2,1:8,69,33:0.55,6.95,0.00:0.00,0.00,0.00:0.55,6.95,0.00:0.00,0.51,0.00:0.00,0.00,0.00:0.00,0.51,0.00:60,60,60:121.0,69.0,7.0:0,0,0:0,0,0:111,103,113:16,47,38:0,9,0:NM_024770.3(METTL8) c.1034-350A>C,-:0.16,-:NOT_FOUND,- 2 172182292 rs13031794 G A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8538,A/0.1462;Gene=METTL8/NM_024770.3/1;CC=c.1033+59C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:8,15:262,504:23.57,0.00:22.14,0.00:1.42,0.00:0.99,0.00:0.99,0.00:0.74,0.00:60,60:36.1,8.4:0,0:0,0:46,72:103,79:27,40:NM_024770.3(METTL8) c.1033+59C>T,-:0.15,-:NOT_FOUND,- 2 172182417 . C . . NT END=172182551;NT GT ./. 2 172182659 . C . . NT END=172187068;NT GT ./. 2 172187209 . C . . NT END=172188313;NT GT ./. 2 172187261 . A AT 8 rn VT=INS;SST=Single;DP=36;NP=4;PC=0.002;Gene=METTL8/NM_024770.3/1;CC=c.721-54_721-53insA;VC=Intron;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_25;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,AT,D:36:12:4:3:29,4,3:877,118,99:0.00,8.42,7.00:0.00,5.17,5.19:0.00,3.25,1.81:0.00,0.61,0.00:0.00,0.68,0.00:0.00,0.91,0.00:60,60,60:15.0,34.5,39.7:0,0,0:0,0,0:100,119,67:51,31,28:28,5,5:-,NM_024770.3(METTL8) c.721-54_721-53insA:-,NOT_FOUND:-,NOT_FOUND 2 172188368 rs13023973 C T 62 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.8652,T/0.1348;PC=0.159;Gene=METTL8/NM_024770.3/1;CC=c.666G>A;ProtCh=p.P222=;VC=Silent;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:24:0:0:14,18:428,628:0.00,61.92:0.00,27.60:0.00,34.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,37.8:0,0:0,0:70,99:78,52:31,23:-,NM_024770.3(METTL8) c.666G>A (p.(=)):-,0.13:-,0.218043 2 172188378 . C . . NT END=172193962;NT GT ./. 2 172193808 rs3731987 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.6733,C/0.3267;PC=0.013;Gene=METTL8/NM_024770.3/1;CC=c.656+155A>G;VC=Intron;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:9,12:302,400:28.27,0.00:28.27,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.9,1.7:0,0:0,0:69,51:82,100:57,23:NM_024770.3(METTL8) c.656+155A>G,-:0.31,-:NOT_FOUND,- 2 172194013 . C . . NT END=172195693;NT GT ./. 2 172195421 rs17285260 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6504,C/0.3496;Gene=METTL8/NM_024770.3/1;CC=c.606+273A>G;VC=Intron;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:6:6:0:0:4,2:136,63:13.85,0.00:13.85,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:51.2,37.5:0,0:0,0:55,70:95,80:7,69:NM_024770.3(METTL8) c.606+273A>G,-:0.38,-:NOT_FOUND,- 2 172195545 rs1733487 G A 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.01198,A/0.988;NP=2582;Gene=METTL8/NM_024770.3/1;CC=c.606+149C>T;VC=Intron;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_12;DM=METTL8/Methyltransf_25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A,G:25:25:0:0:24,1:724,15:82.06,0.00:82.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.2,22.0:0,0:0,0:50,27:100,124:18,0:NM_024770.3(METTL8) c.606+149C>T,NM_024770.3(METTL8) c.606+149C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 172196065 . C . . NT END=172216931;NT GT ./. 2 172216969 rs3731986 T C 64 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.6885,C/0.3115;PC=0.121;Gene=METTL8/NM_024770.3/1;CC=c.198A>G;ProtCh=p.K66=;VC=Silent;DM=METTL8/Methyltransf_23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:45:0:0:22,42:711,1385:63.71,0.00:27.21,0.00:36.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:34.7,8.8:0,0:0,0:43,80:105,68:25,32:NM_024770.3(METTL8) c.198A>G (p.(=)),-:0.3,-:0.384438,- 2 172217024 . C . . NT END=172248552;NT GT ./. 2 172231361 . CT C 8 rn VT=DEL;SST=Single;DP=11;NP=2;PC=0.086;Gene=METTL8/NM_024770.3/1;CC=c.144-14339delA;VC=Intron;DM=METTL8/Methyltransf_23;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:CT,I,C:11:10:1:3:7,1,3:216,31,97:0.00,2.25,8.47:0.00,2.29,8.61:0.00,-0.04,-0.13:0.00,0.00,0.60:0.00,0.00,0.93:0.00,0.00,0.52:60,60,60:5.7,75.0,35.7:0,0,0:0,0,0:30,11,98:119,140,53:12,0,5:-,NM_024770.3(METTL8) c.144-14339delA:-,NOT_FOUND:-,NOT_FOUND 2 172248696 . C . . NT END=172291087;NT GT ./. 2 172291214 . G . . NT END=172291592;NT GT ./. 2 172291697 . G . . NT END=172300032;NT GT ./. 2 172300124 . G . . NT END=172305190;NT GT ./. 2 172305177 rs372539451 C CT 12 idl,rn VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.7929,T/0.2071;DB;DBA=NA;PAF=NA;Gene=DCAF17/NM_001164821.1/0;CC=c.322-3dupT;VC=Intron;Gene=DCAF17/NM_025000.3/1;CC=c.322-3dupT;VC=Intron;Gene=DCAF17/NR_028482.1/0;VC=NonCoding;DM=DCAF17/DCAF17;DM=DCAF17/DCAF17;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,CT,D:49:39:6:4:40,5,4:1308,199,129:0.00,12.06,8.98:0.00,5.61,7.20:0.00,6.45,1.78:0.00,0.73,0.00:0.00,0.94,0.00:0.00,0.85,0.00:60,60,60:16.9,42.6,6.0:0,1,0:0,0,0:68,39,20:73,111,130:26,13,7:-,NM_025000.3(DCAF17) c.322-14_322-13insT:-,NOT_FOUND:-,NOT_FOUND 2 172305328 . G . . NT END=172306388;NT GT ./. 2 172306468 . G . . NT END=172309633;NT GT ./. 2 172309724 . G . . NT END=172314480;NT GT ./. 2 172314586 . G . . NT END=172314881;NT GT ./. 2 172314988 . G . . NT END=172325397;NT GT ./. 2 172325140 rs62183504 A G 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6997,G/0.3003;Gene=DCAF17/NM_001164821.1/0;CC=c.839-258A>G;VC=Intron;Gene=DCAF17/NM_025000.3/1;CC=c.839-258A>G;VC=Intron;Gene=DCAF17/NR_028482.1/0;VC=NonCoding;DM=DCAF17/DCAF17;DM=DCAF17/DCAF17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G,T:8:8:0:0:3,4,1:95,126,8:0.00,12.40,0.28:0.00,12.40,0.28:0.00,0.00,0.00:0.00,0.87,0.00:0.00,0.87,0.00:0.00,0.00,0.00:60,60,60:3.0,43.5,118.0:0,0,0:0,0,0:28,19,81:123,131,70:6,9,0:-,NM_025000.3(DCAF17) c.839-258A>G:-,0.31:-,NOT_FOUND 2 172325541 . G . . NT END=172330375;NT GT ./. 2 172330486 . G . . NT END=172333369;NT GT ./. 2 172333461 . G . . NT END=172334496;NT GT ./. 2 172334581 . G . . NT END=172336547;NT GT ./. 2 172336704 . G . . NT END=172337483;NT GT ./. 2 172337625 . A . . NT END=172378782;NT GT ./. 2 172348021 rs17287442 G C 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.9036,C/0.09645;PC=0.775 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:17:0:0:14,18:433,620:40.42,0.00:13.54,0.00:26.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.9,3.1:0,0:0,0:87,78:60,67:39,26:chr2 g.172348020G>C (intergenic),-:0.11,-:NOT_FOUND,- 2 172348395 rs6712098 A G 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1981,G/0.8019;PC=0.205 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:3:0:0:20:675:77.04:8.10:68.93:1.00:1.00:1.00:60:38.2:0:0:124:26:19:chr2 g.172348394A>G (intergenic),chr2 g.172348394A>G (intergenic):0.84,0.84:NOT_FOUND,NOT_FOUND 2 172373507 rs1476110 C T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3994,T/0.6006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:34,78:0.00,8.23:0.00,8.23:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,26.0:0,0:0,0:8,39:141,112:0,2:-,NM_024843.3(CYBRD1) c.-190-u5359C>T:-,0.62:-,NOT_FOUND 2 172373731 rs200342981 CTTT C 30 idl,nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=CTTT/0.48,C/0.52;NP=48;PC=0.754;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTT,I,C:26:36:2:22:14,2,10:487,68,690:0.00,4.87,29.92:0.00,4.89,26.84:0.00,-0.01,3.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.77:60,60,60:43.1,37.0,107.7:0,0,12:0,0,0:103,92,31:43,56,110:31,15,18:-,NM_024843.3(CYBRD1) c.-190-u5134_-190-u5132delTTT:-,NOT_FOUND:-,NOT_FOUND 2 172374000 rs6433295 T G 165 nt VT=SNV;PN=C;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=T/0.2955,G/0.7045;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:150:95:0:0:2,59,89:23,1804,3014:-0.15,165.23,0.00:-0.28,76.71,0.00:0.13,88.52,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,56,60:95.0,53.8,5.9:0,0,0:0,0,0:116,84,92:33,67,51:18,37,38:NM_024843.3(CYBRD1) c.-190-u4866T>G,-:0.7,-:NOT_FOUND,- 2 172374078 rs6433296 C G 153 nt VT=SNV;PN=C;NN=G;SST=Single;DP=153;DB;DBA=NA;PAF=C/0.4004,G/0.5996;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:153:95:0:0:99,54:3069,1700:0.00,152.64:0.00,69.48:0.00,83.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,75.1:0,0:0,0:63,48:82,97:32,28:-,NM_024843.3(CYBRD1) c.-190-u4788C>G:-,0.62:-,NOT_FOUND 2 172374120 rs6724344 G A 187 nt VT=SNV;PN=C;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=G/0.4012,A/0.5988;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:157:94:0:0:60,97:2037,2982:187.02,0.00:57.54,0.00:129.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.3,4.6:0,0:0,0:64,74:87,70:27,31:NM_024843.3(CYBRD1) c.-190-u4746G>A,-:0.62,-:NOT_FOUND,- 2 172374266 rs60723438 T A 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.4018,A/0.5982 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:54:14:0:0:21,1,32:675,10,974:62.07,-0.09,0.00:13.33,-0.05,0.00:48.74,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.7,148.0,4.8:0,0,0:0,0,0:99,87,116:51,50,28:24,0,30:NM_024843.3(CYBRD1) c.-190-u4600T>A,-:0.62,-:NOT_FOUND,- 2 172374395 rs13406777 T C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2258,C/0.7742;PC=0.029 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,T:15:0:0:0:7,8:174,266:16.19,0.00:0.00,0.00:16.19,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:84.6,9.9:0,0:0,0:71,87:73,63:47,17:NM_024843.3(CYBRD1) c.-190-u4471T>C,-:0.78,-:NOT_FOUND,- 2 172378657 rs884409 T G 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.7728,G/0.2272;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:46:44:0:0:22,24:677,817:64.36,0.00:57.37,0.00:6.99,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:31.2,2.8:0,0:0,0:44,34:107,117:22,22:NM_024843.3(CYBRD1) c.-190-u209T>G,-:0.22,-:NOT_FOUND,- 2 172378802 . G . . NT END=172378865;NT GT ./. 2 172378818 rs868106 A G 244 nt VT=SNV;PN=A;NN=T;SST=Single;DP=168;DB;DBA=NA;PAF=A/0.2724,G/0.7276;Gene=CYBRD1/NM_001256909.1/0;CC=c.19+17A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:168:143:0:0:88,1,78,1:2778,7,2566,10:0.00,-0.20,243.87,-0.17:0.00,-0.12,163.64,-0.09:0.00,-0.08,80.24,-0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:13.4,40.0,57.8,190.0:0,0,0,0:0,0,0,0:55,126,61,124:76,24,79,27:35,0,34,0:-,NM_024843.3(CYBRD1) c.-190-u48A>G:-,0.68:-,NOT_FOUND 2 172378889 rs2356782 C G 323 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=223;DB;DBA=NA;PAF=C/0.2732,G/0.7268;Gene=CYBRD1/NM_001256909.1/0;CC=c.19+88C>G;VC=Intron;Gene=CYBRD1/NM_001127383.1/0;CC=c.-167C>G;VC=5UTR;Gene=CYBRD1/NM_024843.3/1;CC=c.-167C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:223:166:0:0:3,111,109:32,3419,3373:-0.18,0.00,322.83:-0.18,0.00,182.12:-0.00,0.00,140.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:105.0,18.9,50.7:0,0,0:0,0,0:84,68,60:34,79,87:48,27,36:-,NM_024843.3(CYBRD1) c.-167C>G:-,0.68:-,NOT_FOUND 2 172379249 . G . . NT END=172398094;NT GT ./. 2 172398304 . G . . NT END=172409855;NT GT ./. 2 172398311 rs7586144 T C 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.1957,C/0.8043;PC=0.509;Gene=CYBRD1/NM_001256909.1/0;CC=c.228+8T>C;VC=Intron;Gene=CYBRD1/NM_001127383.1/0;CC=c.194-11545T>C;VC=Intron;Gene=CYBRD1/NM_024843.3/1;CC=c.402+8T>C;VC=Intron;DM=CYBRD1/Cytochrom_B561;DM=CYBRD1/Cytochrom_B561 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:24:0:0:25,49:772,1515:68.56,0.00:20.95,0.00:47.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,20.2:0,0:0,0:113,109:34,39:20,21:NM_024843.3(CYBRD1) c.402+8T>C,-:0.79,-:0.760803,- 2 172398371 rs374018141 C GT 10 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=23;PC=0.851;Gene=CYBRD1/NM_001256909.1/0;CC=c.228+67_228+68insG;VC=Intron;Gene=CYBRD1/NM_001127383.1/0;CC=c.194-11486_194-11485insG;VC=Intron;Gene=CYBRD1/NM_024843.3/1;CC=c.402+67_402+68insG;VC=Intron;DM=CYBRD1/Cytochrom_B561;DM=CYBRD1/Cytochrom_B561;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:C,T,GT,D:25:4:5:8:16,2,4,3:470,23,154,205:0.00,0.64,10.02,5.73:0.00,-0.06,1.28,-0.09:0.00,0.70,8.74,5.82:0.00,0.00,0.64,0.00:0.00,0.00,0.44,0.00:0.00,0.00,0.95,0.00:60,60,70,60:30.9,173.5,19.8,95.7:0,0,1,4:0,0,0,0:119,119,55,85:24,31,94,66:21,7,26,38:-,NM_024843.3(CYBRD1) c.402+68delCinsGT:-,NOT_FOUND:-,NOT_FOUND 2 172409721 rs2542941 C T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3311,T/0.6689;Gene=CYBRD1/NM_001256909.1/0;CC=c.229-135C>T;VC=Intron;Gene=CYBRD1/NM_001127383.1/0;CC=c.194-135C>T;VC=Intron;Gene=CYBRD1/NM_024843.3/1;CC=c.403-135C>T;VC=Intron;DM=CYBRD1/Cytochrom_B561;DM=CYBRD1/Cytochrom_B561 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:C,T:17:17:0:0:11,6:351,171:0.00,15.16:0.00,15.25:0.00,-0.09:0.00,0.95:0.00,0.95:0.00,0.57:60,60:13.5,33.7:0,0:0,0:30,51:119,99:21,19:-,NM_024843.3(CYBRD1) c.403-135C>T:-,0.63:-,NOT_FOUND 2 172409790 rs143524630 TA T 71 nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=TA/0.8872,T/0.1128;NP=609;Gene=CYBRD1/NM_001256909.1/0;CC=c.229-63delA;VC=Intron;Gene=CYBRD1/NM_001127383.1/0;CC=c.194-63delA;VC=Intron;Gene=CYBRD1/NM_024843.3/1;CC=c.403-63delA;VC=Intron;DM=CYBRD1/Cytochrom_B561;DM=CYBRD1/Cytochrom_B561;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:51:49:0:24:27,24:837,745:0.00,70.67:0.00,52.24:0.00,18.43:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.0,27.5:0,0:0,0:45,46:91,104:21,15:-,NM_024843.3(CYBRD1) c.403-65delA:-,0.12:-,NOT_FOUND 2 172410011 . G . . NT END=172411033;NT GT ./. 2 172410874 rs2111719 C T 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.004792,T/0.9952;NP=1302;PC=0.318;Gene=CYBRD1/NM_001256909.1/0;CC=c.384-160C>T;VC=Intron;Gene=CYBRD1/NM_001127383.1/0;CC=c.349-160C>T;VC=Intron;Gene=CYBRD1/NM_024843.3/1;CC=c.558-160C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:417:47.42:47.42:0.00:1.00:1.00:0.00:60:42.2:0:0:34:116:13:NM_024843.3(CYBRD1) c.558-160C>T,NM_024843.3(CYBRD1) c.558-160C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 172411273 rs10455 G A 178 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.3169,A/0.6831;Gene=CYBRD1/NM_001256909.1/0;CC=c.623G>A;ProtCh=p.S208N;VC=Missense;Gene=CYBRD1/NM_001127383.1/0;CC=c.*114G>A;VC=3UTR;Gene=CYBRD1/NM_024843.3/1;CC=c.797G>A;ProtCh=p.S266N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:113:53:0:0:58,54,1:1842,1793,10:178.16,0.00,-0.12:48.43,0.00,-0.10:129.73,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.8,6.0,33.0:0,0,0:0,0,0:89,73,112:58,75,39:30,37,0:NM_024843.3(CYBRD1) c.797G>A (p.Ser266Asn),-:0.65,-:0.733892,- 2 172411338 . A . . NT END=172546665;NT GT ./. 2 172546774 . G . . NT END=172549286;NT GT ./. 2 172549248 rs6433311 A G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2817,G/0.7183;Gene=DYNC1I2/NM_001271786.1/0;CC=c.109-39A>G;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.109-39A>G;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.109-39A>G;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.109-39A>G;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.109-39A>G;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.109-39A>G;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.109-39A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:25:0:0:17,10:523,307:0.00,27.74:0.00,25.28:0.00,2.45:0.00,1.00:0.00,1.00:0.00,0.94:60,60:12.4,51.1:0,0:0,0:42,36:108,115:25,16:-,NM_001378.1(DYNC1I2) c.109-39A>G:-,0.7:-,0.684431 2 172549405 . G . . NT END=172563056;NT GT ./. 2 172549630 rs6757773 T A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DYNC1I2/NM_001271786.1/0;CC=c.226+226T>A;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.226+226T>A;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.226+226T>A;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.226+226T>A;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.226+226T>A;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.226+226T>A;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.226+226T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,C,T:12:0:0:0:6,1,5:143,12,159:13.79,0.48,0.00:0.00,0.00,0.00:13.79,0.48,0.00:0.98,0.00,0.00:0.00,0.00,0.00:0.98,0.00,0.00:60,60,60:33.5,65.0,11.0:0,0,0:0,0,0:117,17,121:33,134,29:21,0,29:NM_001378.1(DYNC1I2) c.226+226T>A,-:0.7,-:NOT_FOUND,- 2 172563075 . G . . NT END=172563742;NT GT ./. 2 172563888 . G . . NT END=172569276;NT GT ./. 2 172563922 rs312925 G A 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.733,A/0.267;PC=0.963;Gene=DYNC1I2/NM_001271786.1/0;CC=c.371+35G>A;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.317+35G>A;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.317+35G>A;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.335+35G>A;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.335+35G>A;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.371+35G>A;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.317+35G>A;VC=Intron;DM=DYNC1I2/Dynein_IC2;DM=DYNC1I2/Dynein_IC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:18:0:0:20,28:607,861:56.09,0.00:8.86,0.00:47.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,8.4:0,0:0,0:100,107:46,41:30,30:NM_001378.1(DYNC1I2) c.335+35G>A,-:0.28,-:0.298223,- 2 172564021 rs312924 A T 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7326,T/0.2674;PC=0.001;Gene=DYNC1I2/NM_001271786.1/0;CC=c.371+134A>T;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.317+134A>T;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.317+134A>T;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.335+134A>T;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.335+134A>T;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.371+134A>T;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.317+134A>T;VC=Intron;DM=DYNC1I2/Dynein_IC2;DM=DYNC1I2/Dynein_IC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:0:0:0:18,9:569,269:0.00,23.72:0.00,0.00:0.00,23.72:0.00,0.99:0.00,0.00:0.00,0.99:60,60:25.2,48.7:0,0:0,0:101,95:49,55:26,29:-,NM_001378.1(DYNC1I2) c.335+134A>T:-,0.28:-,NOT_FOUND 2 172564094 rs34531723 A C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.52,C/0.48;PC=0.001;Gene=DYNC1I2/NM_001271786.1/0;CC=c.371+207A>C;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.317+207A>C;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.317+207A>C;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.335+207A>C;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.335+207A>C;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.371+207A>C;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.317+207A>C;VC=Intron;DM=DYNC1I2/Dynein_IC2;DM=DYNC1I2/Dynein_IC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,C:7:0:0:0:3,4:96,142:0.00,14.03:0.00,0.00:0.00,14.03:0.00,0.90:0.00,0.00:0.00,0.90:60,60:42.7,60.5:0,0:0,0:136,106:15,44:3,16:-,NM_001378.1(DYNC1I2) c.335+207A>C:-,0.48:-,NOT_FOUND 2 172564575 rs2674483 T A 18 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2472,A/0.7528;NP=391;Gene=DYNC1I2/NM_001271786.1/0;CC=c.371+688T>A;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.317+688T>A;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.317+688T>A;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.335+688T>A;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.335+688T>A;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.371+688T>A;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.317+688T>A;VC=Intron;DM=DYNC1I2/Dynein_IC2;DM=DYNC1I2/Dynein_IC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:155:17.87:11.88:5.99:1.00:1.00:1.00:70:78.4:4:0:88:63:20:NM_001378.1(DYNC1I2) c.335+688T>A,NM_001378.1(DYNC1I2) c.335+688T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 172564577 rs71013065 T A,ACACA 14 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2288,A/0.7712;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=390;NP=6;DM=DYNC1I2/Dynein_IC2;DM=DYNC1I2/Dynein_IC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:A,ACACA:5:4:4:0:1,4:35,128:3.28,14.32:1.64,9.20:1.64,5.12:0.00,0.96:0.00,1.00:0.00,0.99:60,70:69.0,80.8:0,0:0,0:115,88:27,62:0,12:NM_001378.1(DYNC1I2) c.335+690T>A,NM_001378.1(DYNC1I2) c.335+690delTinsACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 172566632 rs199702118 TACACACAC C,T 7 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=40;PC=0.005;DM=DYNC1I2/Dynein_IC2;DM=DYNC1I2/Dynein_IC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:56:C,TACACACAC,T:5:5:0:4:2,1,2:69,7,126:6.63,0.00,5.83:6.76,0.00,1.42:-0.13,0.00,4.42:0.39,0.00,0.00:0.80,0.00,0.00:0.80,0.00,0.00:60,60,60:34.5,133.0,50.0:0,0,2:0,0,0:78,80,55:72,71,96:47,0,18:NM_001378.1(DYNC1I2) c.336-2645_336-2638delTACACACA,NM_001378.1(DYNC1I2) c.336-2644_336-2637delACACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 172569134 rs5836347 AT A 11 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AT/0.6809,A/0.3191;DB;DBA=NA;PAF=AT/0.6809,A/0.3191;NP=474;Gene=DYNC1I2/NM_001271786.1/0;CC=c.372-2692delT;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.318-2692delT;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.318-2692delT;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.336-131delT;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.336-131delT;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.372-2692delT;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.318-2692delT;VC=Intron;DM=DYNC1I2/Dynein_IC2;DM=DYNC1I2/Dynein_IC2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:AT,A:9:10:0:5:5,4:120,149:0.00,11.22:0.00,11.22:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:45.8,26.2:0,1:0,0:98,34:52,117:22,24:-,NM_001378.1(DYNC1I2) c.336-142delT:-,NOT_FOUND:-,NOT_FOUND 2 172569337 . G . . NT END=172571837;NT GT ./. 2 172571954 . G . . NT END=172582127;NT GT ./. 2 172582111 rs35175731 T TG 29 nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.736,TG/0.264;NP=733;PC=0.147;Gene=DYNC1I2/NM_001271786.1/0;CC=c.488-17_488-16insG;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.434-17_434-16insG;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.434-17_434-16insG;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.512-17_512-16insG;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.512-17_512-16insG;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.488-17_488-16insG;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.434-17_434-16insG;VC=Intron;DM=DYNC1I2/Dynein_IC2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TG:29:25:10:1:1,18,10:10,582,320:0.00,0.00,28.84:-0.22,0.00,19.94:0.22,0.00,8.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:10.0,40.5,16.8:1,5,0:0,0,0:54,33,51:96,102,95:0,26,13:-,NM_001378.1(DYNC1I2) c.512-17_512-16insG:-,0.25:-,NOT_FOUND 2 172582112 rs3821091 T G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=243;PC=0.001;Gene=DYNC1I2/NM_001271786.1/0;CC=c.488-16T>G;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.434-16T>G;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.434-16T>G;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.512-16T>G;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.512-16T>G;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.488-16T>G;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.434-16T>G;VC=Intron;DM=DYNC1I2/Dynein_IC2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:G,T:30:26:0:0:3,27:96,852:6.80,0.00:6.08,0.00:0.72,0.00:0.43,0.00:0.85,0.00:0.61,0.00:60,60:38.7,29.8:0,17:0,0:75,53:73,94:65,23:NM_001378.1(DYNC1I2) c.512-16T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 172582224 . G . . NT END=172582428;NT GT ./. 2 172582281 rs139032813 A ATTAC 64 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.002796,ACTTA/.,ATTAC/0.9972;NP=1914;NP=7;Gene=DYNC1I2/NM_001271786.1/0;CC=c.583+61_583+62insCTTA;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.529+61_529+62insCTTA;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.529+61_529+62insCTTA;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.607+61_607+62insCTTA;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.607+61_607+62insCTTA;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.583+61_583+62insCTTA;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.529+61_529+62insCTTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,ATTAC:25:12:19:0:6,19:156,604:0.00,63.51:0.00,28.18:0.00,35.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.0,6.7:0,0:0,0:147,74:3,76:1,29:-,NM_001378.1(DYNC1I2) c.607+58_607+59insTTAC:-,NOT_FOUND:-,NOT_FOUND 2 172582344 rs74268271 AAC A 46 nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=AAC/0.8486,A/0.1514;DB;DBA=NA;PAF=AAC/0.8486,A/0.1514;NP=967;Gene=DYNC1I2/NM_001271786.1/0;CC=c.584-83_584-82delCA;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.530-83_530-82delCA;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.530-83_530-82delCA;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.608-83_608-82delCA;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.608-83_608-82delCA;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.584-83_584-82delCA;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.530-83_530-82delCA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,A:31:19:0:16:15,16:466,479:0.00,46.21:0.00,33.11:0.00,13.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,5.6:0,0:0,0:65,62:82,85:45,34:-,NM_001378.1(DYNC1I2) c.608-84_608-83delAC:-,0.17:-,NOT_FOUND 2 172582592 . G . . NT END=172582703;NT GT ./. 2 172582804 . G . . NT END=172583300;NT GT ./. 2 172583427 . G . . NT END=172584330;NT GT ./. 2 172584478 . G . . NT END=172584814;NT GT ./. 2 172584623 . A CT 10 rn VT=INS;SST=Single;DP=23;NP=2;PC=0.002;Gene=DYNC1I2/NM_001271786.1/0;CC=c.1119+145_1119+146insC;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.1065+145_1065+146insC;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.1065+145_1065+146insC;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.1143+145_1143+146insC;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.1143+145_1143+146insC;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.1119+145_1119+146insC;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.1065+145_1065+146insC;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,CT,D:23:3:4:1:18,4,1:539,127,32:0.00,10.08,1.97:0.00,-0.25,-0.06:0.00,10.33,2.03:0.00,0.69,0.00:0.00,0.48,0.00:0.00,0.94,0.00:60,70,60:10.3,3.0,0.0:0,0,0:0,0,0:111,35,89:38,115,62:25,15,0:-,NM_001378.1(DYNC1I2) c.1143+146delAinsCT:-,NOT_FOUND:-,NOT_FOUND 2 172584929 . G . . NT END=172585226;NT GT ./. 2 172585361 . G . . NT END=172586218;NT GT ./. 2 172585595 rs11897196 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7356,A/0.2644;Gene=DYNC1I2/NM_001271786.1/0;CC=c.1367+235G>A;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.1313+235G>A;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.1313+235G>A;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.1391+235G>A;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.1391+235G>A;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.1367+235G>A;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.1313+235G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G:5:0:0:0:4,1:130,12:13.86,0.00:0.00,0.00:13.86,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:32.5,26.0:0,0:0,0:117,14:33,137:15,0:NM_001378.1(DYNC1I2) c.1391+235G>A,-:0.28,-:NOT_FOUND,- 2 172586364 . G . . NT END=172600558;NT GT ./. 2 172586567 rs2292814 G A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2127,A/0.7873;Gene=DYNC1I2/NM_001271786.1/0;CC=c.1512+204G>A;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.1458+204G>A;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.1458+204G>A;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.1536+204G>A;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.1536+204G>A;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.1512+204G>A;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.1458+204G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:160:18.38:0.00:18.38:1.00:0.00:1.00:60:45.4:0:0:72:79:17:NM_001378.1(DYNC1I2) c.1536+204G>A,NM_001378.1(DYNC1I2) c.1536+204G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 172586651 rs2292815 C G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7634,G/0.2366;Gene=DYNC1I2/NM_001271786.1/0;CC=c.1512+288C>G;VC=Intron;Gene=DYNC1I2/NM_001271788.1/0;CC=c.1458+288C>G;VC=Intron;Gene=DYNC1I2/NM_001271790.1/0;CC=c.1458+288C>G;VC=Intron;Gene=DYNC1I2/NM_001378.2/1;CC=c.1536+288C>G;VC=Intron;Gene=DYNC1I2/NM_001271785.1/0;CC=c.1536+288C>G;VC=Intron;Gene=DYNC1I2/NM_001271787.1/0;CC=c.1512+288C>G;VC=Intron;Gene=DYNC1I2/NM_001271789.1/0;CC=c.1458+288C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:45.8:0:0:69:82:22:NM_001378.1(DYNC1I2) c.1536+288C>G,NM_001378.1(DYNC1I2) c.1536+288C>G:0.25,0.25:NOT_FOUND,NOT_FOUND 2 172600700 . G . . NT END=172602311;NT GT ./. 2 172602438 . G . . NT END=172604285;NT GT ./. 2 172604400 . T . . NT END=172641783;NT GT ./. 2 172641660 rs13035825 C T 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.9912,T/0.008786;NP=26;PC=0.970;Gene=SLC25A12/NM_003705.4/1;CC=c.*124G>A;VC=3UTR;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:8,21:245,666:0.00,69.22:0.00,69.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.5,50.0:0,0:0,0:47,41:104,110:32,31:-,NM_003705.4(SLC25A12) c.*124G>A:-,0.01:-,NOT_FOUND 2 172641986 . C . . NT END=172644080;NT GT ./. 2 172642057 rs12692973 C T 46 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.7352,T/0.2648;Gene=SLC25A12/NM_003705.4/1;CC=c.1836-72G>A;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:11:0:0:22,16:702,495:0.00,45.88:0.00,9.15:0.00,36.73:0.00,1.00:0.00,0.99:0.00,1.00:60,60:4.6,43.4:0,0:0,0:117,88:33,62:20,35:-,NM_003705.4(SLC25A12) c.1836-72G>A:-,0.28:-,NOT_FOUND 2 172644172 . C . . NT END=172644298;NT GT ./. 2 172644229 rs2292813 T C 308 nt VT=SNV;PN=A;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.2085,C/0.7915;Gene=SLC25A12/NM_003705.4/1;CC=c.1745-58A>G;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding;DM=SLC25A12/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:80:54:0:0:80:2694:307.50:160.60:146.90:1.00:1.00:1.00:60:38.7:0:0:59:91:35:NM_003705.4(SLC25A12) c.1745-58A>G,NM_003705.4(SLC25A12) c.1745-58A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 172644458 . C . . NT END=172647960;NT GT ./. 2 172648100 . C . . NT END=172650136;NT GT ./. 2 172650278 . C . . NT END=172666115;NT GT ./. 2 172650382 rs6745143 G A 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.7342,A/0.2658;PC=0.002;Gene=SLC25A12/NM_003705.4/1;CC=c.1306-105C>T;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding;DM=SLC25A12/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:11:0:0:13,22:420,749:38.17,0.00:7.86,0.00:30.31,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:37.7,3.7:0,0:0,0:107,113:44,38:34,27:NM_003705.4(SLC25A12) c.1306-105C>T,-:0.28,-:NOT_FOUND,- 2 172658417 rs5836352 CTGTGTGTG C 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=24;PC=0.043;Gene=SLC25A12/NM_003705.4/1;CC=c.1305+7691_1305+7698delCACACACA;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding;DM=SLC25A12/Mito_carr;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:3:0:4:3:126:10.25:7.40:2.85:0.85:0.99:0.83:60:77.0:1:0:60:89:35:NM_003705.4(SLC25A12) c.1305+7691_1305+7698delCACACACA,NM_003705.4(SLC25A12) c.1305+7691_1305+7698delCACACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 172666197 . C . . NT END=172666733;NT GT ./. 2 172666787 . C . . NT END=172669848;NT GT ./. 2 172670008 . C . . NT END=172671630;NT GT ./. 2 172671713 . C . . NT END=172683307;NT GT ./. 2 172683393 . C . . NT END=172690472;NT GT ./. 2 172690567 . C . . NT END=172691236;NT GT ./. 2 172691376 . C . . NT END=172693630;NT GT ./. 2 172693778 . C . . NT END=172700878;NT GT ./. 2 172701019 . C . . NT END=172712343;NT GT ./. 2 172701157 rs2271758 T G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5064,G/0.4936;Gene=SLC25A12/NM_003705.4/1;CC=c.326-139A>C;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:G,T:9:0:0:0:6,3:205,96:20.87,0.00:0.00,0.00:20.87,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:34.2,0.0:0,0:0,0:80,83:70,68:33,37:NM_003705.4(SLC25A12) c.326-139A>C,-:0.51,-:NOT_FOUND,- 2 172712460 . C . . NT END=172725190;NT GT ./. 2 172712480 rs2056202 T C 90 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.242,C/0.758;PC=0.499;Gene=SLC25A12/NM_003705.4/1;CC=c.210-21A>G;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:11:0:0:25:783:90.15:25.42:64.74:1.00:1.00:1.00:60:43.4:0:0:105:46:27:NM_003705.4(SLC25A12) c.210-21A>G,NM_003705.4(SLC25A12) c.210-21A>G:0.77,0.77:0.776872,0.776872 2 172725301 rs1878583 A G 238 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.2091,G/0.7909;PC=1.000;Gene=SLC25A12/NM_003705.4/1;CC=c.99T>C;ProtCh=p.Y33=;VC=Silent;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:G:65:34:0:0:65:2070:237.79:96.38:141.41:1.00:1.00:1.00:60:44.1:0:0:78:73:35:NM_003705.4(SLC25A12) c.99T>C (p.(=)),NM_003705.4(SLC25A12) c.99T>C (p.(=)):0.82,0.82:0.814701,0.814701 2 172725334 . C . . NT END=172728201;NT GT ./. 2 172728051 rs10930496 T C 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.24,C/0.76;PC=0.006;Gene=SLC25A12/NM_003705.4/1;CC=c.67-2718A>G;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,T:9:9:0:0:8,1:253,34:27.73,0.00:27.73,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:76.0,0.0:0,0:0,0:45,75:106,76:18,0:NM_003705.4(SLC25A12) c.67-2718A>G,-:0.77,-:NOT_FOUND,- 2 172728282 . T . . NT END=172749714;NT GT ./. 2 172728492 rs35208355 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2464,G/0.7536;PC=0.711;Gene=SLC25A12/NM_003705.4/1;CC=c.67-3159T>C;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:169:19.28:0.00:19.28:1.00:0.00:1.00:60:86.8:3:0:120:25:24:NM_003705.4(SLC25A12) c.67-3159T>C,NM_003705.4(SLC25A12) c.67-3159T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 172728493 rs34139128 TA T 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TA/0.2424,T/0.7576;NP=2;PC=0.715;Gene=SLC25A12/NM_003705.4/1;CC=c.67-3161delT;VC=Intron;Gene=SLC25A12/NR_047549.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TA,T:5:0:0:3:2,3:64,98:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.78:0.00,0.00:0.00,0.78:60,60:97.5,79.7:0,0:0,0:106,121:43,24:39,18:-,NM_003705.4(SLC25A12) c.67-3161delT:-,NOT_FOUND:-,NOT_FOUND 2 172749769 . C . . NT END=172750712;NT GT ./. 2 172750725 . G . . NT END=172779010;NT GT ./. 2 172750916 rs16859910 G GGGCC 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5893,GGGCC/0.4107;DB;DBA=NA;PAF=G/0.5893,GGGCC/0.4107;NP=258;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,GGGCC:5:0:3:0:2,3:65,89:0.00,8.87:0.00,0.00:0.00,8.87:0.00,0.78:0.00,0.00:0.00,0.78:60,70:47.5,7.0:0,0:0,0:109,105:41,46:31,29:-,NM_003705.4(SLC25A12) c.-92-u101_-92-u100insGGCC:-,0.4:-,NOT_FOUND 2 172779018 . G . . NT END=172782046;NT GT ./. 2 172782152 . G . . NT END=172803227;NT GT ./. 2 172803304 . G . . NT END=172809398;NT GT ./. 2 172809520 . G . . NT END=172821858;NT GT ./. 2 172821739 rs1982288 G T 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2101,G/0.7899;Gene=HAT1/NM_003642.3/1;CC=c.310-120G>T;VC=Intron;Gene=HAT1/NR_027862.1/0;VC=NonCoding;DM=HAT1/Hat1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:331:37.87:37.87:0.00:1.00:1.00:0.00:60:60.7:0:0:52:98:37:NM_003642.3(HAT1) c.310-120G>T,NM_003642.3(HAT1) c.310-120G>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 172822039 . G . . NT END=172822307;NT GT ./. 2 172822430 . G . . NT END=172822929;NT GT ./. 2 172823035 . G . . NT END=172823363;NT GT ./. 2 172823471 . G . . NT END=172841095;NT GT ./. 2 172841248 . G . . NT END=172844159;NT GT ./. 2 172844277 . G . . NT END=172848098;NT GT ./. 2 172848267 . A . . NT END=172864876;NT GT ./. 2 172855185 rs58461677 A ATG 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=329;PC=0.010;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,ATG:5:4:4:0:1,4:33,128:0.00,13.62:0.00,8.40:0.00,5.22:0.00,0.96:0.00,1.00:0.00,0.99:60,60:0.0,5.2:0,0:0,0:19,23:26,128:0,15:-,chr2 g.172855185_172855186insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 172864917 . G . . NT END=172926225;NT GT ./. 2 172889665 rs367819905 G GTGTGTGTA 13 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;Gene=METAP1D/NM_199227.1/1;CC=c.40+24756_40+24757insATGTGTGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:G,GTGTGTGTA:7:7:4:0:3,4:105,127:0.00,12.53:0.00,6.27:0.00,6.27:0.00,0.90:0.00,0.90:0.00,0.90:60,70:0.0,34.2:0,0:0,0:99,72:47,78:5,39:-,NM_199227.1(METAP1D) c.40+24749_40+24750insTGTGTGTA:-,NOT_FOUND:-,NOT_FOUND 2 172902199 rs5836364 GGT G 13 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=615;Gene=METAP1D/NM_199227.1/1;CC=c.41-24003_41-24002delTG;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:4:4:112:13.10:3.63:9.47:1.00:1.00:1.00:60:47.5:0:0:84:58:20:NM_199227.1(METAP1D) c.41-24026_41-24025delGT,NM_199227.1(METAP1D) c.41-24026_41-24025delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 172926384 . G . . NT END=172928438;NT GT ./. 2 172928675 . G . . NT END=172930331;NT GT ./. 2 172930481 . G . . NT END=172930991;NT GT ./. 2 172931035 . G . . NT END=172935634;NT GT ./. 2 172935799 . G . . NT END=172942524;NT GT ./. 2 172942623 . G . . NT END=172943942;NT GT ./. 2 172943875 rs150069536 T C 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.9962,C/0.003794;NP=51;Gene=METAP1D/NM_199227.1/1;CC=c.803-68T>C;VC=Intron;DM=METAP1D/Peptidase_M24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:27:0:0:20,11:609,364:61.66,0.00:41.54,0.00:20.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.0,12.6:0,0:0,0:36,48:114,84:24,39:NM_199227.1(METAP1D) c.803-68T>C,-:0.01,-:NOT_FOUND,- 2 172943991 . G . . NT END=172944855;NT GT ./. 2 172944748 rs58045367 G A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8762,A/0.1238;PC=0.924;Gene=METAP1D/NM_199227.1/1;CC=c.851-108G>A;VC=Intron;DM=METAP1D/Peptidase_M24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,G:16:16:0:0:6,10:193,344:17.57,0.00:17.57,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:38.7,8.7:0,0:0,0:37,65:113,85:22,13:NM_199227.1(METAP1D) c.851-108G>A,-:0.13,-:NOT_FOUND,- 2 172944935 . G . . NT END=172945055;NT GT ./. 2 172945135 . G . . NT END=172950405;NT GT ./. 2 172950719 . G . . NT END=172951381;NT GT ./. 2 172951582 . G . . NT END=172952730;NT GT ./. 2 172952532 rs705868 A C 63 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.02037,C/0.9796;Gene=DLX1/NM_001038493.1/0;CC=c.314-199A>C;VC=Intron;Gene=DLX1/NM_178120.4/1;CC=c.514-199A>C;VC=Intron;DM=DLX1/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:15:0:0:17:547:62.79:57.25:5.54:1.00:1.00:1.00:60:62.8:0:0:63:86:23:NM_178120.4(DLX1) c.514-199A>C,NM_178120.4(DLX1) c.514-199A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 172952986 . G . . NT END=172965270;NT GT ./. 2 172965673 . C . . NT END=172966189;NT GT ./. 2 172966250 rs2228184 T C 151 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.6412,C/0.3588;PC=0.671;Gene=DLX2/NM_004405.3/1;CC=c.525A>G;ProtCh=p.Q175=;VC=Silent;DM=DLX2/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:73:0:0:47,46:1566,1455:151.04,0.00:88.85,0.00:62.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,7.6:0,0:0,0:65,71:83,60:37,28:NM_004405.3(DLX2) c.525A>G (p.(=)),-:0.39,-:0.314163,- 2 172966375 . C . . NT END=172966866;NT GT ./. 2 172967267 . C . . NT END=173291953;NT GT ./. 2 172967302 rs743605 C T 93 nt VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.6831,T/0.3169;PC=0.089;Gene=DLX2/NM_004405.3/1;CC=c.-36G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:22:0:0:33,31:977,976:0.00,93.18:0.00,18.74:0.00,74.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,39.2:0,0:0,0:105,81:39,61:20,32:-,NM_004405.3(DLX2) c.-36G>A:-,0.32:-,0.37024 2 172982428 rs6147028 GTATATATA G 11 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GTATATATA/0.04373,G/0.9563;DB;DBA=NA;PAF=GTATATATA/0.04373,G/0.9563;NP=70;PC=0.606;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:5:0:6:3:202:10.63:7.10:3.53:0.73:0.96:0.89:60:58.3:3:0:84:52:17:chr2 g.172982429_172982436delTATATATA (intergenic),chr2 g.172982429_172982436delTATATATA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 172982448 rs375536425 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=177;PC=0.917 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:7:6:0:0:4,3:130,104:0.00,9.76:0.00,4.46:0.00,5.29:0.00,0.69:0.00,0.95:0.00,0.83:60,60:8.5,78.3:3,0:0,0:113,47:32,70:10,38:-,chr2 g.172982447A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 172982450 rs201297195 A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=319;PC=0.905 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:7:6:0:0:3,4:91,140:0.00,13.83:0.00,6.36:0.00,7.47:0.00,0.90:0.00,0.99:0.00,0.93:60,60:0.0,67.5:0,0:0,0:123,70:28,63:5,22:-,chr2 g.172982449A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 173199114 rs6757748 T C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1703,C/0.8297;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:3:0:0:3,1:76,33:8.03,0.00:4.98,0.00:3.05,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:48.0,0.0:0,0:0,0:32,63:109,88:10,0:chr2 g.173199113T>C (intergenic),-:0.83,-:NOT_FOUND,- 2 173292199 . G . . NT END=173292313;NT GT ./. 2 173292699 . G . . NT END=173330266;NT GT ./. 2 173330392 . G . . NT END=173332208;NT GT ./. 2 173332289 . G . . NT END=173333852;NT GT ./. 2 173334109 . G . . NT END=173335701;NT GT ./. 2 173335834 . G . . NT END=173337501;NT GT ./. 2 173337619 . G . . NT END=173338782;NT GT ./. 2 173338994 . G . . NT END=173339656;NT GT ./. 2 173339216 rs62167774 A T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8343,T/0.1657;Gene=ITGA6/NM_001316306/0;CC=c.629+223A>T;VC=Intron;Gene=ITGA6/NM_000210.2/1;CC=c.986+223A>T;VC=Intron;Gene=ITGA6/NM_001079818.1/0;CC=c.986+223A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,T:6:1:0:0:3,3:98,93:0.00,8.92:0.00,-0.30:0.00,9.23:0.00,0.73:0.00,0.67:0.00,0.96:60,60:0.0,34.3:0,0:0,0:111,129:40,21:25,11:-,NM_001079818.1(ITGA6) c.986+223A>T:-,0.2:-,NOT_FOUND 2 173339851 . G . . NT END=173340324;NT GT ./. 2 173340414 . G . . NT END=173341122;NT GT ./. 2 173341242 . G . . NT END=173344368;NT GT ./. 2 173344468 . G . . NT END=173344717;NT GT ./. 2 173344780 . G . . NT END=173349509;NT GT ./. 2 173349671 . G . . NT END=173349848;NT GT ./. 2 173349993 . G . . NT END=173351750;NT GT ./. 2 173351867 . G . . NT END=173351991;NT GT ./. 2 173352182 . G . . NT END=173352274;NT GT ./. 2 173352359 . G . . NT END=173352455;NT GT ./. 2 173352536 . G . . NT END=173352688;NT GT ./. 2 173352767 . G . . NT END=173352853;NT GT ./. 2 173352957 . G . . NT END=173354212;NT GT ./. 2 173354387 . G . . NT END=173355751;NT GT ./. 2 173355851 . G . . NT END=173355948;NT GT ./. 2 173356060 . G . . NT END=173356152;NT GT ./. 2 173356252 . G . . NT END=173362702;NT GT ./. 2 173362829 . G . . NT END=173366499;NT GT ./. 2 173366630 . G . . NT END=173368818;NT GT ./. 2 173368981 . C . . NT END=173420878;NT GT ./. 2 173369000 rs61499296 A AT 43 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.8942,AAT/.,AT/0.1058;Gene=ITGA6/NM_001316306/0;CC=c.*204_*205insT;VC=3UTR;Gene=ITGA6/NM_000210.2/1;CC=c.*204_*205insT;VC=3UTR;Gene=ITGA6/NM_001079818.1/0;CC=c.*20_*21insT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:46:26:15:0:26,5,15:876,161,480:0.00,12.37,43.40:0.00,7.50,21.23:0.00,4.88,22.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:12.7,57.6,8.6:0,0,0:0,0,0:67,124,100:80,25,44:24,6,14:-,NM_001079818.1(ITGA6) c.*20_*21insT:-,NOT_FOUND:-,0.139101 2 173421075 . G . . NT END=173423435;NT GT ./. 2 173423578 . G . . NT END=173426947;NT GT ./. 2 173427020 . G . . NT END=173427468;NT GT ./. 2 173427529 . G . . NT END=173429230;NT GT ./. 2 173429033 rs4972842 T A 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9237,A/0.07628;PC=0.001;Gene=PDK1/NR_103731.1/0;VC=NonCoding;Gene=PDK1/NM_001278549.1/1;CC=c.471-198T>A;VC=Intron;Gene=PDK1/NM_002610.4/0;CC=c.411-198T>A;VC=Intron;Gene=PDK1/NR_103729.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,T:11:11:0:0:9,2:291,65:31.13,0.00:31.13,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.9,0.0:0,0:0,0:53,33:97,117:30,19:NM_002610.3(PDK1) c.411-198T>A,-:0.1,-:NOT_FOUND,- 2 173429416 . G . . NT END=173429705;NT GT ./. 2 173429496 rs71403315 TTAGG T 59 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=TTAGG/0.8143,T/0.1857;DB;DBA=NA;PAF=TTAGG/0.8143,T/0.1857;DB;DBA=NA;PAF=TTAGG/0.8143,T/0.1857;NP=950;Gene=PDK1/NR_103731.1/0;VC=NonCoding;Gene=PDK1/NM_001278549.1/1;CC=c.655+86_655+89delTAGG;VC=Intron;Gene=PDK1/NM_002610.4/0;CC=c.595+86_595+89delTAGG;VC=Intron;Gene=PDK1/NR_103729.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTAGG,T:34:7:0:19:15,19:468,601:0.00,59.04:0.00,7.73:0.00,51.32:0.00,1.00:0.00,0.99:0.00,1.00:60,70:4.3,8.6:0,0:0,0:102,91:48,58:20,36:-,NM_002610.3(PDK1) c.595+82_595+85delTAGG:-,0.19:-,NOT_FOUND 2 173429802 . G . . NT END=173431583;NT GT ./. 2 173431662 . G . . NT END=173433468;NT GT ./. 2 173433546 . G . . NT END=173435453;NT GT ./. 2 173435553 . G . . NT END=173451005;NT GT ./. 2 173435578 rs529091195 CT C 7 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=9;PC=0.006;Gene=PDK1/NR_103731.1/0;VC=NonCoding;Gene=PDK1/NM_001278549.1/1;CC=c.1005+40delT;VC=Intron;Gene=PDK1/NM_002610.4/0;CC=c.945+40delT;VC=Intron;Gene=PDK1/NR_103729.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CT,I,C:29:20:2:7:25,1,3:801,57,195:0.00,2.03,7.28:0.00,-0.15,3.63:0.00,2.18,3.65:0.00,0.00,0.41:0.00,0.00,0.74:0.00,0.00,0.81:60,60,60:8.8,13.0,14.7:0,1,3:0,0,0:112,98,84:22,52,66:25,22,10:-,NM_002610.3(PDK1) c.945+27delT:-,NOT_FOUND:-,NOT_FOUND 2 173435658 rs141130222 CAG C 14 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CAG/0.7702,C/0.2298;NP=566;Gene=PDK1/NR_103731.1/0;VC=NonCoding;Gene=PDK1/NM_001278549.1/1;CC=c.1005+107_1005+108delAG;VC=Intron;Gene=PDK1/NM_002610.4/0;CC=c.945+107_945+108delAG;VC=Intron;Gene=PDK1/NR_103729.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:CAG,C:10:0:0:5:5,5:136,148:0.00,14.18:0.00,0.00:0.00,14.18:0.00,0.95:0.00,0.00:0.00,0.95:60,60:19.0,0.0:0,0:0,0:101,115:50,35:23,22:-,NM_002610.3(PDK1) c.945+107_945+108delAG:-,0.23:-,NOT_FOUND 2 173451117 . G . . NT END=173457662;NT GT ./. 2 173457777 . G . . NT END=173460556;NT GT ./. 2 173460698 . A . . NT END=173600711;NT GT ./. 2 173600603 rs76443145 C A 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.879,A/0.121;PC=0.011;Gene=RAPGEF4-AS1/NR_026995.1/0;VC=NonCoding;Gene=RAPGEF4/NM_007023.3/1;CC=c.-109C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:28:27:0:0:13,15:430,476:40.82,0.00:34.22,0.00:6.60,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:43.0,16.4:0,0:0,0:46,65:105,86:21,21:NM_007023.3(RAPGEF4) c.-109C>A,-:0.13,-:NOT_FOUND,- 2 173600777 . G . . NT END=173659752;NT GT ./. 2 173600783 rs397868445 C CG 169 nt VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=92;PC=0.003;Gene=RAPGEF4-AS1/NR_026995.1/0;VC=NonCoding;Gene=RAPGEF4/NM_007023.3/1;CC=c.65+8dupG;VC=Intron;DM=RAPGEF4/DEP;DM=RAPGEF4/RasGEF;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,CG:54:35:49:0:5,49:125,1532:0.00,169.34:0.00,68.95:0.00,100.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:35.6,10.2:1,0:0,0:129,105:2,45:17,24:NM_007023.3(RAPGEF4) c.65+7_65+8insG,NM_007023.3(RAPGEF4) c.65+7_65+8insG:0.99,0.99:0.994876,0.994876 2 173659896 . G . . NT END=173662252;NT GT ./. 2 173659913 rs7585729 T C 88 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.02975,C/0.9702;Gene=RAPGEF4/NM_007023.3/1;CC=c.208+18T>C;VC=Intron;DM=RAPGEF4/RasGEF;DM=RAPGEF4/cNMP_binding;DM=RAPGEF4/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:C:26:6:0:0:26:755:87.56:14.76:72.80:1.00:1.00:1.00:60:36.7:0:0:101:49:22:NM_007023.3(RAPGEF4) c.208+18T>C,NM_007023.3(RAPGEF4) c.208+18T>C:0.98,0.98:0.97169,0.97169 2 173662342 . G . . NT END=173679006;NT GT ./. 2 173679154 . G . . NT END=173686314;NT GT ./. 2 173686465 . TA T 31 idl,rn VT=DEL;SST=Single;DP=67;Gene=RAPGEF4/NM_007023.3/1;CC=c.444+7336delA;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.-204delA;VC=5UTR;DM=RAPGEF4/RasGEF;DM=RAPGEF4/cNMP_binding;DM=RAPGEF4/cNMP_binding;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:TA,I,T:61:49:10:19:39,10,12:1045,314,540:0.00,25.20,31.15:0.00,23.55,20.06:0.00,1.65,11.09:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:23.5,23.1,34.2:0,0,6:0,0,0:113,44,53:26,105,89:31,23,36:-,NM_007023.3(RAPGEF4) c.444+7313delA:-,NOT_FOUND:-,NOT_FOUND 2 173686663 rs2258180 G T 255 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.473,C/.,T/0.527;PC=0.995;Gene=RAPGEF4/NM_007023.3/1;CC=c.444+7510G>T;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.-30G>T;VC=5UTR;DM=RAPGEF4/RasGEF;DM=RAPGEF4/cNMP_binding;DM=RAPGEF4/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:72:26:0:0:72:2209:255.04:74.64:180.40:1.00:1.00:1.00:60:37.6:0:0:84:66:34:NM_007023.3(RAPGEF4) c.444+7510G>T,NM_007023.3(RAPGEF4) c.444+7510G>T:0.53,0.53:0.515289,0.515289 2 173686705 . G . . NT END=173724770;NT GT ./. 2 173686798 rs2258175 A G 119 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.509,G/0.491;PC=0.626;Gene=RAPGEF4/NM_007023.3/1;CC=c.444+7645A>G;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.12+94A>G;VC=Intron;DM=RAPGEF4/RasGEF;DM=RAPGEF4/cNMP_binding;DM=RAPGEF4/cNMP_binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:2:0:0:31:1042:118.98:3.88:115.10:1.00:1.00:1.00:60:45.5:0:0:105:46:26:NM_007023.3(RAPGEF4) c.444+7645A>G,NM_007023.3(RAPGEF4) c.444+7645A>G:0.5,0.5:0.463863,0.463863 2 173706519 rs3064818 A AAC 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5958,AAC/0.4042;DB;DBA=NA;PAF=A/0.5958,AAC/0.4042,AACAC/.;NP=126;PC=0.001;Gene=RAPGEF4/NM_007023.3/1;CC=c.444+27392_444+27393insAC;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.12+19841_12+19842insAC;VC=Intron;DM=RAPGEF4/RasGEF;DM=RAPGEF4/cNMP_binding;DM=RAPGEF4/cNMP_binding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,AAC:6:6:4:0:2,4:45,130:0.00,13.27:0.00,10.04:0.00,3.24:0.00,0.93:0.00,0.93:0.00,0.99:60,60:13.5,17.2:0,0:0,0:97,84:35,65:34,10:-,NM_007023.3(RAPGEF4) c.444+27366_444+27367insAC:-,NOT_FOUND:-,NOT_FOUND 2 173724921 rs5836395 GT G 193 PASS VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=GT/0.02955,G/0.9704;DB;DBA=NA;PAF=GT/0.02955,G/0.9704;NP=20;PC=1.000;Gene=RAPGEF4/NM_007023.3/1;CC=c.444+45770delT;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.12+38219delT;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.-120delT;VC=5UTR;Gene=RAPGEF4/NM_001282900.1/0;CC=c.-120delT;VC=5UTR;DM=RAPGEF4/RasGEF;DM=RAPGEF4/cNMP_binding;DM=RAPGEF4/cNMP_binding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:99:GT,G:58:39:0:55:3,55:51,1718:0.00,193.16:0.00,108.77:0.00,84.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:130.0,7.3:3,0:0,0:102,77:49,72:22,29:NM_007023.3(RAPGEF4) c.444+45769delT,NM_007023.3(RAPGEF4) c.444+45769delT:0.98,0.98:NOT_FOUND,NOT_FOUND 2 173725028 . G . . NT END=173754501;NT GT ./. 2 173754612 . G . . NT END=173782529;NT GT ./. 2 173782603 . G . . NT END=173787008;NT GT ./. 2 173787029 . G . . NT END=173825487;NT GT ./. 2 173825542 . G . . NT END=173825849;NT GT ./. 2 173825957 . G . . NT END=173830289;NT GT ./. 2 173830412 . G . . NT END=173831988;NT GT ./. 2 173832173 . G . . NT END=173848223;NT GT ./. 2 173848200 . CT C 10 idl,rn VT=DEL;SST=Single;DP=28;NP=58;Gene=RAPGEF4/NM_007023.3/1;CC=c.1005-11delT;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.573-11delT;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.546-11delT;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.492-11delT;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.345-11delT;VC=Intron;DM=RAPGEF4/RasGEF_N;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:CT,I,C:24:25:1:8:19,1,4:611,30,254:0.00,1.73,9.56:0.00,1.85,10.03:0.00,-0.11,-0.47:0.00,0.00,0.66:0.00,0.00,0.94:0.00,0.00,0.86:60,60,60:12.2,28.0,52.0:0,0,4:0,0,0:67,4,14:80,147,126:39,0,3:-,NM_007023.3(RAPGEF4) c.1005-23delT:-,NOT_FOUND:-,0.140173 2 173848309 . G . . NT END=173850160;NT GT ./. 2 173850222 . G . . NT END=173852923;NT GT ./. 2 173853001 . G . . NT END=173853420;NT GT ./. 2 173853568 . G . . NT END=173855537;NT GT ./. 2 173855654 . G . . NT END=173861193;NT GT ./. 2 173861105 . TA T 11 rn VT=DEL;SST=Single;DP=14;NP=4;Gene=RAPGEF4/NM_007023.3/1;CC=c.1491-75delA;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.1059-75delA;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.1032-75delA;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.978-75delA;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.831-75delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:TA,I,T:14:14:2:4:8,2,4:238,65,127:0.00,5.23,11.27:0.00,5.23,9.71:0.00,0.00,1.57:0.00,0.00,0.77:0.00,0.00,0.77:0.00,0.00,0.52:60,60,70:23.4,0.0,10.2:0,0,0:0,0,0:82,35,42:68,115,105:26,22,37:-,NM_007023.3(RAPGEF4) c.1491-88delA:-,NOT_FOUND:-,NOT_FOUND 2 173861283 . G . . NT END=173865993;NT GT ./. 2 173861340 rs2290374 G A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.5795,A/0.4205;Gene=RAPGEF4/NM_007023.3/1;CC=c.1579+58G>A;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.1147+58G>A;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.1120+58G>A;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.1066+58G>A;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.919+58G>A;VC=Intron;DM=RAPGEF4/RasGEF_N;DM=RAPGEF4/RasGEF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:5:0:0:7,12:218,403:19.71,0.00:1.27,0.00:18.43,0.00:0.98,0.00:0.89,0.00:0.98,0.00:60,60:33.0,5.2:0,0:0,0:98,134:51,17:18,10:NM_007023.3(RAPGEF4) c.1579+58G>A,-:0.46,-:0.348226,- 2 173866073 . A . . NT END=173879191;NT GT ./. 2 173866203 rs2028934 C T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3466,T/0.6534;Gene=RAPGEF4/NM_007023.3/1;CC=c.1658+131C>T;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.1226+131C>T;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.1199+131C>T;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.1145+131C>T;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.998+131C>T;VC=Intron;DM=RAPGEF4/RasGEF_N;DM=RAPGEF4/RasGEF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:0:0:0:1,3:35,95:0.00,9.95:0.00,0.00:0.00,9.95:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,50.3:0,0:0,0:115,138:36,13:0,11:-,NM_007023.3(RAPGEF4) c.1658+131C>T:-,0.7:-,NOT_FOUND 2 173875900 rs13033705 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=191;PC=0.005;Gene=RAPGEF4/NM_007023.3/1;CC=c.1659-3292A>G;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.1227-3292A>G;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.1200-3292A>G;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.1146-3292A>G;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.999-3292A>G;VC=Intron;DM=RAPGEF4/RasGEF_N;DM=RAPGEF4/RasGEF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:132:15.11:5.51:9.59:1.00:1.00:1.00:60:61.2:0:0:34:74:29:NM_007023.3(RAPGEF4) c.1659-3292A>G,NM_007023.3(RAPGEF4) c.1659-3292A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 173879343 . G . . NT END=173881076;NT GT ./. 2 173879534 rs1992808 C A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1679,A/0.8321;Gene=RAPGEF4/NM_007023.3/1;CC=c.1809+192C>A;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.1377+192C>A;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.1350+192C>A;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.1296+192C>A;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.1149+192C>A;VC=Intron;DM=RAPGEF4/RasGEF_N;DM=RAPGEF4/RasGEF_N;DM=RAPGEF4/RasGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:140:16.38:0.00:16.38:1.00:0.00:1.00:60:34.0:0:0:129:22:16:NM_007023.3(RAPGEF4) c.1809+192C>A,NM_007023.3(RAPGEF4) c.1809+192C>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 173881166 . G . . NT END=173881901;NT GT ./. 2 173881933 . G . . NT END=173882153;NT GT ./. 2 173882233 . G . . NT END=173883383;NT GT ./. 2 173883531 . G . . NT END=173885345;NT GT ./. 2 173885444 . G . . NT END=173891299;NT GT ./. 2 173891426 . G . . NT END=173891808;NT GT ./. 2 173891988 . G . . NT END=173894891;NT GT ./. 2 173894983 . G . . NT END=173898641;NT GT ./. 2 173898693 . G . . NT END=173900852;NT GT ./. 2 173899601 rs68095402 AAC A 10 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AAC/0.2955,A/0.7045;DB;DBA=NA;PAF=AAC/0.2955,A/0.7045;NP=177;PC=0.045;Gene=RAPGEF4/NM_007023.3/1;CC=c.2700+945_2700+946delCA;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.2268+945_2268+946delCA;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.2241+945_2241+946delCA;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.2187+945_2187+946delCA;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.2040+945_2040+946delCA;VC=Intron;DM=RAPGEF4/RasGEF;DM=RAPGEF4/RasGEF;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:AAC,A:4:7:0:6:1,3:11,176:0.00,9.99:0.00,6.53:0.00,3.46:0.00,0.69:0.00,0.69:0.00,0.89:60,60:20.0,19.7:0,3:0,0:115,43:35,105:0,34:-,NM_007023.3(RAPGEF4) c.2700+910_2700+911delAC:-,NOT_FOUND:-,NOT_FOUND 2 173900941 . G . . NT END=173901355;NT GT ./. 2 173901421 . G . . NT END=173913327;NT GT ./. 2 173913383 . G . . NT END=173916367;NT GT ./. 2 173916348 rs201149929 G T 26 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.044;Gene=RAPGEF4/NM_007023.3/1;CC=c.2909-20G>T;VC=Intron;Gene=RAPGEF4/NM_001100397.1/0;CC=c.2477-20G>T;VC=Intron;Gene=RAPGEF4/NM_001282899.1/0;CC=c.2450-20G>T;VC=Intron;Gene=RAPGEF4/NM_001282900.1/0;CC=c.2396-20G>T;VC=Intron;Gene=RAPGEF4/NM_001282901.1/0;CC=c.2249-20G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:26:23:0:0:17,9:577,291:0.00,26.11:0.00,25.42:0.00,0.69:0.00,0.99:0.00,1.00:0.00,0.96:60,60:2.2,35.7:0,0:0,0:30,43:105,108:19,30:-,NM_007023.3(RAPGEF4) c.2909-20G>T:-,NOT_FOUND:-,0.000419 2 173916496 . A . . NT END=173940439;NT GT ./. 2 173940437 rs145628330 CG C 456 nt VT=DEL;SST=Single;DP=133;DB;DBA=NA;PAF=NA;NP=363;PC=0.001;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:CG,C:133:115:0:133:1,132:14,3951:0.00,455.83:0.00,306.51:0.00,149.32:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,13.1:0,0:0,0:148,55:2,87:0,26:NM_016653.2(ZAK) c.-200-u127delG,NM_016653.2(ZAK) c.-200-u127delG:0.58,0.58:NOT_FOUND,NOT_FOUND 2 173940544 . G . . NT END=173940564;NT GT ./. 2 173940620 rs62175800 A G 666 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=191;DB;DBA=NA;PAF=A/0.009385,G/0.9906;PC=0.909;Gene=ZAK/NM_133646.2/0;CC=c.-145A>G;VC=5UTR;Gene=ZAK/NM_016653.2/1;CC=c.-145A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:191:118:0:0:1,189,1:9,5776,24:0.04,666.45,0.68:0.00,285.90,0.00:0.04,380.55,0.68:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.0,48.4,45.0:0,0,0:0,0,0:109,61,52:42,85,98:0,39,0:NM_016653.2(ZAK) c.=,NM_016653.2(ZAK) c.=:0.98,0.98:NOT_FOUND,NOT_FOUND 2 173940731 . G . . NT END=173955346;NT GT ./. 2 173940750 rs111401521 C T 350 nt VT=SNV;PN=C;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.4183,T/0.5817;Gene=ZAK/NM_133646.2/0;CC=c.-35+20C>T;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.-35+20C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:97:44:0:0:97:3041:350.08:101.27:248.80:1.00:1.00:1.00:60:51.2:0:0:105:43:23:NM_016653.2(ZAK) c.-35+20C>T,NM_016653.2(ZAK) c.-35+20C>T:0.58,0.58:NOT_FOUND,NOT_FOUND 2 173955211 rs10623653 C CTA 117 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.008586,CTA/0.9914;NP=1;NP=179;Gene=ZAK/NM_133646.2/0;CC=c.-34-515_-34-514insTA;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.-34-515_-34-514insTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C,CTA:34:34:33:0:1,33:12,1026:0.00,116.59:0.00,116.59:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:127.0,15.2:1,0:0,0:60,56:91,94:0,33:NM_016653.2(ZAK) c.-34-515_-34-514insTA,NM_016653.2(ZAK) c.-34-515_-34-514insTA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 173955559 . G . . NT END=173955725;NT GT ./. 2 173955919 . G . . NT END=174034532;NT GT ./. 2 174034621 . G . . NT END=174047581;NT GT ./. 2 174047684 . G . . NT END=174052285;NT GT ./. 2 174052352 . G . . NT END=174055622;NT GT ./. 2 174055652 . G . . NT END=174055767;NT GT ./. 2 174055731 rs2289399 A G 99 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.7722,G/0.2278,T/.;Gene=ZAK/NM_133646.2/0;CC=c.445-37A>G;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.445-37A>G;VC=Intron;DM=ZAK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:54:0:0:38,32:1153,1048:0.00,99.16:0.00,69.21:0.00,29.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,37.6:0,0:0,0:60,56:85,94:35,44:-,NM_016653.2(ZAK) c.445-37A>G:-,0.25:-,0.317161 2 174055906 . G . . NT END=174062753;NT GT ./. 2 174062841 . G . . NT END=174068523;NT GT ./. 2 174068513 rs11899707 G C 123 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.01697,C/0.983,T/.;Gene=ZAK/NM_133646.2/0;CC=c.670-11G>C;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.670-11G>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;DM=ZAK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:28:0:0:32:1079:123.12:75.58:47.53:1.00:1.00:1.00:60:40.7:0:0:53:92:35:NM_016653.2(ZAK) c.670-11G>C,NM_016653.2(ZAK) c.670-11G>C:0.98,0.98:0.978241,0.978241 2 174068599 . G . . NT END=174074456;NT GT ./. 2 174074353 rs2289398 T G 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5769,G/0.4231;Gene=ZAK/NM_133646.2/0;CC=c.745-104T>G;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.745-104T>G;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;DM=ZAK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:G,T:19:19:0:0:13,6:389,123:39.97,0.00:39.97,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:94.9,12.3:0,0:0,0:39,24:112,120:17,23:NM_016653.2(ZAK) c.745-104T>G,-:0.44,-:NOT_FOUND,- 2 174074375 rs2289397 T C 46 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.7534,C/0.2466;Gene=ZAK/NM_133646.2/0;CC=c.745-82T>C;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.745-82T>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;DM=ZAK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:21:0:0:15,7:449,216:46.05,0.00:45.04,0.00:1.01,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:93.3,9.1:0,0:0,0:49,23:101,128:22,7:NR_033882.1(MLK7-AS1) n.1313A>G,-:0.25,-:NOT_FOUND,- 2 174074407 rs2289396 A G 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.5399,G/0.4601;Gene=ZAK/NM_133646.2/0;CC=c.745-50A>G;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.745-50A>G;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;DM=ZAK/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:27:0:0:10,18:292,597:0.00,60.34:0.00,51.71:0.00,8.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,75.0:0,0:0,0:50,51:100,99:27,32:-,NR_033882.1(MLK7-AS1) n.1281T>C:-,0.47:-,0.580809 2 174074564 . G . . NT END=174081842;NT GT ./. 2 174081534 rs11677913 T C 9 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5411,C/0.4589;Gene=ZAK/NM_133646.2/0;CC=c.852-309T>C;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.852-309T>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:6:6:0:0:3,3:92,99:8.82,0.00:8.82,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:30.7,10.3:0,0:0,0:0,56:150,94:0,24:NM_016653.2(ZAK) c.852-309T>C,-:0.46,-:NOT_FOUND,- 2 174081979 . G . . NT END=174085877;NT GT ./. 2 174085741 rs11690597 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8135,G/0.1865;PC=0.003;Gene=ZAK/NM_133646.2/0;CC=c.988-137A>G;VC=Intron;Gene=ZAK/NM_016653.2/1;CC=c.987+3763A>G;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:19:0:0:9,10:267,255:0.00,24.43:0.00,24.43:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.1,33.5:0,0:0,0:27,44:124,106:13,16:-,NM_016653.2(ZAK) c.987+3763A>G:-,0.17:-,NOT_FOUND 2 174086285 rs74417392 C T 224 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=186;DB;DBA=NA;PAF=C/0.7794,G/.,T/0.2206;PC=0.359;Gene=ZAK/NM_133646.2/0;CC=c.*27C>T;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.987+4307C>T;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:186:105:0:0:1,108,77:8,3616,2418:-0.20,0.00,223.93:-0.12,0.00,83.13:-0.09,0.00,140.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:119.0,4.9,38.9:0,0,0:0,0,0:86,66,83:65,84,67:0,38,29:-,NM_016653.2(ZAK) c.987+4307C>T:-,0.19:-,0.208925 2 174086492 rs16861363 C T 189 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=136;DB;DBA=NA;PAF=C/0.7542,T/0.2458;PC=1.000;Gene=ZAK/NM_133646.2/0;CC=c.*234C>T;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.987+4514C>T;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:136:75:0:0:74,62:2351,2001:0.00,188.94:0.00,81.06:0.00,107.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,43.9:0,0:0,0:74,74:72,76:26,34:-,NM_016653.2(ZAK) c.987+4514C>T:-,0.21:-,NOT_FOUND 2 174086940 rs397726872 C CA 107 rn VT=INS;SST=Single;DP=89;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;Gene=ZAK/NM_133646.2/0;CC=c.*690_*691insA;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.987+4970_987+4971insA;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CA,D:89:68:36:1:2,49,1,36,1:19,1558,8,1150,33:-0.12,0.00,-0.17,107.03,1.59:-0.13,0.00,-0.10,71.98,-0.16:0.01,0.00,-0.07,35.05,1.75:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:86.5,7.0,71.0,6.9,0.0:0,0,0,0,0:0,0,0,0,0:29,64,66,30,74:107,86,82,107,76:6,33,0,23,0:-,NM_016653.2(ZAK) c.987+4962_987+4963insA:-,NOT_FOUND:-,NOT_FOUND 2 174087309 rs6731949 G A 150 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=G/0.7788,A/0.2212;Gene=ZAK/NM_133646.2/0;CC=c.*1051G>A;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.987+5331G>A;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:123:64:0:0:54,2,67:1601,24,2141:149.66,-0.00,0.00:64.43,-0.17,0.00:85.23,0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:67.6,154.5,6.0:0,0,0:0,0,0:76,103,91:67,46,59:37,19,30:NM_016653.2(ZAK) c.987+5331G>A,-:0.18,-:NOT_FOUND,- 2 174087310 rs6746658 T A 160 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.7792,A/0.2208;Gene=ZAK/NM_133646.2/0;CC=c.*1052T>A;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.987+5332T>A;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:120:61:0:0:53,67:1701,2124:159.58,0.00:63.97,0.00:95.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.3,7.9:0,0:0,0:67,90:73,59:31,27:NM_016653.2(ZAK) c.987+5332T>A,-:0.18,-:NOT_FOUND,- 2 174087747 rs2028382 A C 208 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=A/0.7252,C/0.2748;PC=0.014;Gene=ZAK/NM_133646.2/0;CC=c.*1489A>C;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.987+5769A>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:120:76:0:0:55,64,1:1755,2130,11:0.00,207.89,-0.09:0.00,95.59,0.00:0.00,112.30,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.2,36.3,125.0:0,0,0:0,0,0:79,60,95:72,91,56:39,41,0:-,NM_016653.2(ZAK) c.987+5769A>C:-,0.3:-,NOT_FOUND 2 174087964 . a . . NT END=174088159;NT GT ./. 2 174088266 rs10497402 G A 163 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=G/0.7798,A/0.2202;Gene=ZAK/NM_133646.2/0;CC=c.*2008G>A;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-6151G>A;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:116:81:0:0:54,61,1:1715,1970,20:162.71,0.00,0.33:83.43,0.00,0.43:79.28,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.4,10.5,45.0:0,0,0:0,0,0:71,75,124:74,72,25:46,34,0:NM_016653.2(ZAK) c.988-6151G>A,-:0.19,-:NOT_FOUND,- 2 174088718 . t . . NT END=174088984;NT GT ./. 2 174089112 rs4146109 T C 349 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.02057,C/0.9794;NP=14;PC=0.001;Gene=ZAK/NM_133646.2/0;CC=c.*2854T>C;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-5305T>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:97:65:0:0:97:3031:348.83:201.82:147.01:1.00:1.00:1.00:60:38.3:0:0:78:67:33:NM_016653.2(ZAK) c.988-5305T>C,NM_016653.2(ZAK) c.988-5305T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 174089705 rs78127504 G GAGA 274 PASS VT=INS;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.2889,GAGA/0.7111;NP=714;PC=0.001;Gene=ZAK/NM_133646.2/0;CC=c.*3449_*3450insAAG;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-4710_988-4709insAAG;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G,GAGA:79:48:77:0:2,77:71,2417:0.00,274.34:0.00,138.30:0.00,136.04:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,4.8:1,0:0,0:123,71:23,78:17,32:NM_016653.2(ZAK) c.988-4712_988-4711insAGA,NM_016653.2(ZAK) c.988-4712_988-4711insAGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 174089862 rs11339480 TC T 244 PASS VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=TC/0.008387,T/0.9916;NP=7;Gene=ZAK/NM_133646.2/0;CC=c.*3607delC;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-4552delC;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:TC,T:76:37:0:71:6,70:166,2197:0.00,244.03:0.00,76.75:0.00,167.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,5.1:0,0:0,0:148,83:2,60:2,27:NM_016653.2(ZAK) c.988-4554delC,NM_016653.2(ZAK) c.988-4554delC:0.99,0.99:NOT_FOUND,NOT_FOUND 2 174089889 . g . . NT END=174090326;NT GT ./. 2 174090321 rs71902127 C CAA 45 sb;idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=2;NP=29;Gene=ZAK/NM_133646.2/0;CC=c.*4078_*4079insAA;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-4081_988-4080insAA;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CAA,D:67:63:20:3:2,46,16,3:64,1411,639,99:3.69,0.00,44.70,6.35:-0.46,0.00,45.68,6.52:4.15,0.00,-0.98,-0.16:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.94,0.00:60,60,60,60:55.0,17.7,49.7,37.7:1,0,4,0:0,0,0,0:27,50,64,29:117,99,82,122:14,36,29,5:-,NM_016653.2(ZAK) c.988-4096_988-4095insAA:-,NOT_FOUND:-,NOT_FOUND 2 174090332 rs372158708 A AAC 101 idl VT=INS;SST=Single;DP=79;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7185,AAAC/.,AAC/0.2815,AC/.;NP=1;NP=147;Gene=ZAK/NM_133646.2/0;CC=c.*4075_*4076insCA;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-4084_988-4083insCA;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAC:74:64:39:0:40,34:1309,1223:0.00,100.60:0.00,56.99:0.00,43.62:0.00,1.00:0.00,1.00:0.00,1.00:60,70:34.3,19.5:0,5:0,0:65,52:85,91:35,18:-,NM_016653.2(ZAK) c.988-4085_988-4084insAC:-,NOT_FOUND:-,NOT_FOUND 2 174090542 rs8446 T C 417 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.4772,C/0.5228;PC=0.060;Gene=ZAK/NM_133646.2/0;CC=c.*4284T>C;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-3875T>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:118:71:0:0:1,117:10,3618:0.08,416.76:0.08,202.10:0.00,214.66:0.00,1.00:0.00,1.00:0.00,1.00:60,70:138.0,39.5:0,0:0,0:65,66:86,84:0,30:NM_016653.2(ZAK) c.988-3875T>C,NM_016653.2(ZAK) c.988-3875T>C:0.51,0.51:NOT_FOUND,NOT_FOUND 2 174090636 rs67401411 T TA 104 idl,rn VT=INS;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.738,TA/0.262;DB;DBA=NA;PAF=T/0.738,TA/0.262;NP=271;PC=0.001;Gene=ZAK/NM_133646.2/0;CC=c.*4390dupA;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-3769dupA;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA,D:104:67:39:9:1,58,37,8:10,1639,1196,293:-0.13,0.00,103.69,18.88:-0.10,0.00,55.72,11.82:-0.03,0.00,47.96,7.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:20.0,37.0,26.0,22.4:0,2,2,1:0,0,0,0:19,86,69,59:118,61,76,84:0,35,30,42:-,NM_016653.2(ZAK) c.988-3781_988-3780insA:-,NOT_FOUND:-,NOT_FOUND 2 174091088 rs11887008 T C 339 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.2304,C/0.7696;Gene=ZAK/NM_133646.2/0;CC=c.*4830T>C;VC=3UTR;Gene=ZAK/NM_016653.2/1;CC=c.988-3329T>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:58:0:0:96:2938:339.23:183.50:155.72:1.00:1.00:1.00:60:39.6:0:0:72:76:37:NM_016653.2(ZAK) c.988-3329T>C,NM_016653.2(ZAK) c.988-3329T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 174091875 . T . . NT END=174094416;NT GT ./. 2 174091964 rs2119123 A C 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2861,C/0.7139;Gene=ZAK/NM_016653.2/1;CC=c.988-2453A>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:0:0:0:22:716:82.07:0.00:82.07:1.00:0.00:1.00:60:43.3:0:0:106:44:33:NM_016653.2(ZAK) c.988-2453A>C,NM_016653.2(ZAK) c.988-2453A>C:0.7,0.7:NOT_FOUND,NOT_FOUND 2 174094129 rs10169914 G C 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2091,C/0.7909;Gene=ZAK/NM_016653.2/1;CC=c.988-288G>C;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:173:19.68:19.68:0.00:1.00:1.00:0.00:60:39.4:0:0:47:103:15:NM_016653.2(ZAK) c.988-288G>C,NM_016653.2(ZAK) c.988-288G>C:0.77,0.77:NOT_FOUND,NOT_FOUND 2 174094462 . G . . NT END=174096919;NT GT ./. 2 174096951 . G . . NT END=174097047;NT GT ./. 2 174097188 . G . . NT END=174103100;NT GT ./. 2 174103164 . G . . NT END=174104131;NT GT ./. 2 174104037 . G GA 25 rn VT=INS;SST=Single;DP=30;NP=11;PC=0.003;Gene=ZAK/NM_016653.2/1;CC=c.1267-81dupA;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:30:30:9:1:20,9,1:643,286,29:0.00,25.09,1.61:0.00,25.17,1.62:0.00,-0.08,-0.01:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.53,0.00:60,60,60:11.3,19.0,0.0:0,0,0:0,0,0:76,31,69:74,115,82:47,14,0:-,NM_016653.2(ZAK) c.1267-95_1267-94insA:-,NOT_FOUND:-,NOT_FOUND 2 174104225 . G . . NT END=174123426;NT GT ./. 2 174123304 rs11326134 GA G 46 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GA/0.6494,G/0.3506;NP=174;Gene=ZAK/NM_016653.2/1;CC=c.1360-111delA;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GA,I,G:15:16:1:14:1,1,13:34,33,445:0.00,2.54,46.00:0.00,2.54,46.00:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:69.0,11.0,12.5:0,0,1:0,0,0:55,33,60:95,118,89:0,0,26:NM_016653.2(ZAK) c.1360-122delA,NM_016653.2(ZAK) c.1360-122delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 174123544 . G . . NT END=174125790;NT GT ./. 2 174125866 . G . . NT END=174128472;NT GT ./. 2 174128624 . G . . NT END=174130777;NT GT ./. 2 174128805 rs4972541 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8682,G/0.1318;Gene=ZAK/NM_016653.2/1;CC=c.1702+182A>G;VC=Intron;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,G:11:0:0:0:6,5:183,163:0.00,15.40:0.00,0.00:0.00,15.40:0.00,0.93:0.00,0.00:0.00,0.93:60,60:21.5,37.8:0,0:0,0:85,60:62,90:43,46:-,NM_016653.2(ZAK) c.1702+182A>G:-,0.11:-,NOT_FOUND 2 174131392 rs35608243 T C 179 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=143;DB;DBA=NA;PAF=T/0.8802,C/0.1198;PC=0.005;Gene=ZAK/NM_016653.2/1;CC=c.2317T>C;ProtCh=p.Y773H;VC=Missense;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:143:81:0:0:2,58,83:23,1931,2617:-0.13,179.30,0.00:-0.21,73.73,0.00:0.07,105.56,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:77.5,38.0,7.2:0,0,0:0,0,0:1,72,82:150,73,64:0,25,36:NM_016653.2(ZAK) c.2317T>C (p.Tyr773His),-:0.11,-:0.092118,- 2 174131479 . T . . NT END=174219691;NT GT ./. 2 174131511 rs75896701 T TA 40 idl,rn VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;Gene=ZAK/NM_016653.2/1;CC=c.*50dupA;VC=3UTR;Gene=MLK7-AS1/NR_033882.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TA,D:48:10:17:12:1,25,15,7:16,735,512,374:0.29,0.00,40.35,17.70:-0.04,0.00,2.29,-0.27:0.33,0.00,38.06,17.97:0.00,0.00,1.00,0.00:0.00,0.00,0.93,0.00:0.00,0.00,1.00,0.00:60,60,60,60:137.0,29.2,41.9,35.3:0,1,2,5:0,0,0,0:111,106,101,116:40,45,45,34:0,33,19,6:-,NM_016653.2(ZAK) c.*50dupA:-,NOT_FOUND:-,NOT_FOUND 2 174163320 rs1816811 G C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8341,C/0.1659;PC=0.039 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:112:13.09:0.00:13.09:1.00:0.00:1.00:60:30.0:0:0:105:46:43:chr2 g.174163319G>C (intergenic),chr2 g.174163319G>C (intergenic):0.16,0.16:NOT_FOUND,NOT_FOUND 2 174219713 . G . . NT END=174223439;NT GT ./. 2 174223566 . G . . NT END=174223982;NT GT ./. 2 174224220 . G . . NT END=174227953;NT GT ./. 2 174228191 . G . . NT END=174228545;NT GT ./. 2 174228418 rs4972555 C T 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.1436,T/0.8564;Gene=CDCA7/NM_031942.4/1;CC=c.622-128C>T;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.385-128C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:18:0:0:11,13:354,413:0.00,40.32:0.00,30.60:0.00,9.72:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.2,35.4:0,0:0,0:69,50:82,100:13,34:-,NM_031942.4(CDCA7) c.622-128C>T:-,0.86:-,NOT_FOUND 2 174228624 . G . . NT END=174229522;NT GT ./. 2 174228744 rs1529887 T C 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.6066,C/0.3934;PC=0.001;Gene=CDCA7/NM_031942.4/1;CC=c.699+121T>C;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.462+121T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:7,8:229,255:21.74,0.00:0.00,0.00:21.74,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:32.7,1.1:0,0:0,0:34,61:117,89:23,10:NM_031942.4(CDCA7) c.699+121T>C,-:0.44,-:NOT_FOUND,- 2 174229327 rs34743405 G GTAT 17 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1436,GTAT/0.8564;DB;DBA=NA;PAF=G/0.1436,GTAT/0.8564;NP=334;Gene=CDCA7/NM_031942.4/1;CC=c.700-193_700-191dupTTA;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.463-193_463-191dupTTA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,G,GTAT:25:25:8:0:1,16,8:11,430,200:0.09,0.00,17.19:0.09,0.00,17.19:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:20.0,28.8,74.9:0,0,0:0,0,0:113,82,53:38,68,98:0,30,18:-,NM_031942.4(CDCA7) c.700-196_700-195insTAT:-,0.86:-,NOT_FOUND 2 174229348 rs1045401 G A 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.1436,A/0.8564,T/.;Gene=CDCA7/NM_031942.4/1;CC=c.700-175G>A;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.463-175G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:29:0:0:11,18:311,561:27.97,0.00:27.97,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:63.7,21.6:0,0:0,0:66,81:84,69:37,41:NM_031942.4(CDCA7) c.700-175G>A,-:0.86,-:NOT_FOUND,- 2 174229718 . G . . NT END=174230179;NT GT ./. 2 174230153 rs2288993 C G 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.1254,G/0.8746;Gene=CDCA7/NM_031942.4/1;CC=c.895-27C>G;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.658-27C>G;VC=Intron;DM=CDCA7/zf-4CXXC_R1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:71:56:0:0:39,32:1292,1014:0.00,95.41:0.00,66.63:0.00,28.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,40.9:0,0:0,0:45,79:103,68:24,34:-,NM_031942.4(CDCA7) c.895-27C>G:-,0.87:-,0.841227 2 174230321 . G . . NT END=174231010;NT GT ./. 2 174230582 rs6761787 C T 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.1438,T/0.8562;Gene=CDCA7/NM_031942.4/1;CC=c.1035+262C>T;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.798+262C>T;VC=Intron;DM=CDCA7/zf-4CXXC_R1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,T:13:2:0:0:8,5:269,143:0.00,12.90:0.00,-0.42:0.00,13.32:0.00,0.91:0.00,0.68:0.00,0.99:60,60:9.5,34.8:0,0:0,0:106,116:44,34:22,21:-,NM_031942.4(CDCA7) c.1035+262C>T:-,0.86:-,NOT_FOUND 2 174230974 rs72899215 G T 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.9026,T/0.09744;Gene=CDCA7/NM_031942.4/1;CC=c.1036-37G>T;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.799-37G>T;VC=Intron;DM=CDCA7/zf-4CXXC_R1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:78:69:0:0:41,37:1306,1069:0.00,101.07:0.00,75.24:0.00,25.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.1,59.1:0,0:0,0:49,32:98,114:23,23:-,NM_031942.4(CDCA7) c.1036-37G>T:-,0.1:-,0.122866 2 174230983 rs77642400 G GT 107 rn VT=INS;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.144,GAT/.,GT/0.8554,GTT/0.000599;DB;DBA=NA;PAF=G/0.144,GT/0.8554;DB;DBA=NA;PAF=NA;NP=2769;Gene=CDCA7/NM_031942.4/1;CC=c.1036-20dupT;VC=Intron;Gene=CDCA7/NM_145810.2/0;CC=c.799-20dupT;VC=Intron;DM=CDCA7/zf-4CXXC_R1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:79:69:38:0:40,2,37:1274,66,1156:0.00,3.92,107.09:0.00,4.02,82.82:0.00,-0.10,24.28:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:53.5,51.0,18.2:0,1,1:0,0,0:39,76,59:108,74,90:23,6,21:-,NM_031942.4(CDCA7) c.1036-28_1036-27insT:-,NOT_FOUND:-,NOT_FOUND 2 174231161 . G . . NT END=174231877;NT GT ./. 2 174232015 . G . . NT END=174232361;NT GT ./. 2 174232393 . T . . NT END=174774668;NT GT ./. 2 174350490 rs35933670 G A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7376,A/0.2624;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:23:22:0:0:9,13,1:296,446,17:27.42,0.00,0.61:25.95,0.00,0.63:1.47,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:0.69,0.00,0.00:60,60,60:70.9,19.6,101.0:0,0,0:0,0,0:39,64,65:110,83,58:14,17,0:chr2 g.174350489G>A (intergenic),-:0.27,-:NOT_FOUND,- 2 174350568 rs10497393 G A 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.7378,A/0.2622 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:40:0:0:21,20:675,654:65.18,0.00:60.33,0.00:4.85,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:52.3,15.6:0,0:0,0:41,67:109,83:29,55:chr2 g.174350567G>A (intergenic),-:0.27,-:NOT_FOUND,- 2 174539127 rs3040283 T TCACA 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;NP=5;NP=7;NP=8;PC=0.004;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,T,TCACA:5:4:2:0:1,2,2:30,64,67:2.58,0.00,6.41:-0.19,0.00,6.41:2.78,0.00,0.00:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.60:60,60,60:63.0,6.0,12.5:0,0,0:0,0,0:80,87,40:70,62,110:0,57,29:-,chr2 g.174539127_174539128insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 174656000 rs566020272 A AGTGT 9 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;NP=82;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,AGTGT:8:8:3:0:5,3:151,97:0.00,8.84:0.00,5.44:0.00,3.40:0.00,0.67:0.00,0.67:0.00,0.78:60,60:11.2,6.3:0,0:0,0:72,50:75,67:34,20:-,chr2 g.174656000_174656001insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 174708984 rs71018597 C CGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=8;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,CGT:3:3:3:0:1,2:14,90:0.00,6.56:0.00,3.83:0.00,2.73:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,24.5:0,1:0,0:65,43:86,79:0,0:-,chr2 g.174708984_174708985insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 174774986 . C . . NT END=174777797;NT GT ./. 2 174777699 rs34336652 ATC A 82 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=ATC/0.5317,A/0.4683;NP=1434;Gene=SP3/NM_001017371.4/0;CC=c.1825+97_1825+98delGA;VC=Intron;Gene=SP3/NM_001172712.1/0;CC=c.2020+97_2020+98delGA;VC=Intron;Gene=SP3/NM_003111.4/1;CC=c.2029+97_2029+98delGA;VC=Intron;DM=SP3/zf-C2H2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:ATC,A:24:24:0:23:1,23:13,730:0.00,82.30:0.00,82.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:20.0,4.4:0,0:0,0:142,65:1,85:0,25:NM_003111.4(SP3) c.2029+97_2029+98delGA,NM_003111.4(SP3) c.2029+97_2029+98delGA:0.47,0.47:NOT_FOUND,NOT_FOUND 2 174777995 . C . . NT END=174783320;NT GT ./. 2 174783514 . C . . NT END=174819600;NT GT ./. 2 174820961 . C . . NT END=174828488;NT GT ./. 2 174828626 . C . . NT END=174829892;NT GT ./. 2 174829900 . A . . NT END=174940146;NT GT ./. 2 174940256 . C . . NT END=174943695;NT GT ./. 2 174943819 . C . . NT END=174945879;NT GT ./. 2 174945977 . C . . NT END=174946651;NT GT ./. 2 174946793 . C . . NT END=174987907;NT GT ./. 2 174988006 . C . . NT END=174988322;NT GT ./. 2 174988404 . C . . NT END=175006552;NT GT ./. 2 175006729 . C . . NT END=175087760;NT GT ./. 2 175087889 . C . . NT END=175094035;NT GT ./. 2 175093901 rs6752755 C G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8922,G/0.1078;PC=0.001;Gene=OLA1/NM_001011708.1/0;CC=c.-230+135G>C;VC=Intron;Gene=OLA1/NM_013341.3/1;CC=c.245+135G>C;VC=Intron;DM=OLA1/MMR_HSR1;DM=OLA1/MMR_HSR1;DM=OLA1/MMR_HSR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:20:20:0:0:13,7:399,217:0.00,19.42:0.00,19.42:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:4.5,31.0:0,0:0,0:89,36:62,114:46,24:-,NM_013341.3(OLA1) c.245+135G>C:-,0.11:-,NOT_FOUND 2 175094180 . C . . NT END=175111442;NT GT ./. 2 175111544 . C . . NT END=175199820;NT GT ./. 2 175174922 rs7582402 T C 410 nt VT=SNV;PN=T;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.05272,C/0.9473;PC=0.710 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:114:85:0:0:2,112:17,3573:0.25,409.51:0.25,252.76:0.00,156.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,41.1:0,0:0,0:112,61:37,88:30,30:chr2 g.175174921T>C (intergenic),chr2 g.175174921T>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 2 175175604 rs75040133 A G 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.9555,G/0.04453;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:19:0:0:17,10:554,312:0.00,28.23:0.00,21.10:0.00,7.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,58.5:0,0:0,0:63,78:87,71:12,41:-,chr2 g.175175603A>G (intergenic):-,0.06:-,NOT_FOUND 2 175199842 . G . . NT END=175200834;NT GT ./. 2 175200014 rs34372833 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8107,A/0.1893;PC=0.120;Gene=SP9/NM_001145250.1/1;CC=c.21+173G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:15:0:0:0:5,10:139,349:12.13,0.00:0.00,0.00:12.13,0.00:0.89,0.00:0.00,0.00:0.89,0.00:60,60:34.0,7.5:0,0:0,0:89,116:62,33:12,20:NM_001145250.1(SP9) c.21+173G>A,-:0.18,-:NOT_FOUND,- 2 175200127 rs1868600 A C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3161,C/0.6839;PC=0.745;Gene=SP9/NM_001145250.1/1;CC=c.21+286A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:42.2:0:0:121:29:25:NM_001145250.1(SP9) c.21+286A>C,NM_001145250.1(SP9) c.21+286A>C:0.7,0.7:NOT_FOUND,NOT_FOUND 2 175200903 rs35548534 G C 212 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.8313,C/0.1687;Gene=SP9/NM_001145250.1/1;CC=c.90G>C;ProtCh=p.T30=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:132:111:0:0:67,65:2193,2007:211.59,0.00:124.25,0.00:87.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,11.1:0,0:0,0:56,56:94,95:35,33:NM_001145250.1(SP9) c.90G>C (p.(=)),-:0.16,-:0.243758,- 2 175202269 . A . . NT END=175213224;NT GT ./. 2 175202414 rs34763941 C T 123 nt VT=SNV;PN=T;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.9659,T/0.03415 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:3:0:0:48,43:1542,1296:0.00,122.70:0.00,7.00:0.00,115.70:0.00,1.00:0.00,0.86:0.00,1.00:60,60:13.8,36.5:0,0:0,0:95,114:56,37:34,26:-,chr2 g.175202413C>T (intergenic):-,0.02:-,NOT_FOUND 2 175202599 rs35314049 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9541,A/0.04593 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:9:0:0:0:5,4:101,140:9.74,0.00:0.00,0.00:9.74,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:33.2,34.5:0,0:0,0:111,122:40,28:17,12:chr2 g.175202598G>A (intergenic),-:0.09,-:NOT_FOUND,- 2 175213041 rs3192048 T C 115 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.38,C/0.62;PC=0.027;Gene=CIR1/NM_004882.3/1;CC=c.*184A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:31:0:0:31:1006:115.34:111.52:3.83:1.00:1.00:1.00:60:45.7:0:0:78:72:40:NM_004882.3(CIR1) c.*184A>G,NM_004882.3(CIR1) c.*184A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 175213901 . C . . NT END=175215387;NT GT ./. 2 175215474 . C . . NT END=175216346;NT GT ./. 2 175216454 . C . . NT END=175243650;NT GT ./. 2 175243769 . C . . NT END=175244929;NT GT ./. 2 175244756 rs2358666 T C 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.03934,C/0.9607;PC=0.002;Gene=CIR1/NM_004882.3/1;CC=c.366+174A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:321:36.84:36.84:0.00:1.00:1.00:0.00:60:41.2:0:0:67:82:33:NM_004882.3(CIR1) c.366+174A>G,NM_004882.3(CIR1) c.366+174A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 175244979 . C . . NT END=175245378;NT GT ./. 2 175245444 . C . . NT END=175245531;NT GT ./. 2 175245543 . C . . NT END=175246431;NT GT ./. 2 175246506 . C . . NT END=175252412;NT GT ./. 2 175246545 rs558907250 CA C 7 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=26;PC=0.004;Gene=CIR1/NM_004882.3/1;CC=c.168-41delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CA,C:28:12:0:4:25,3:695,127:0.00,6.90:0.00,1.04:0.00,5.86:0.00,0.43:0.00,0.65:0.00,0.85:60,60:24.9,7.3:0,1:0,0:108,106:37,44:27,18:-,NM_004882.3(CIR1) c.168-41delT:-,NOT_FOUND:-,NOT_FOUND 2 175252508 . C . . NT END=175260278;NT GT ./. 2 175260351 . C . . NT END=175260484;NT GT ./. 2 175260755 . t . . NT END=175260986;NT GT ./. 2 175261022 . G . . NT END=175261682;NT GT ./. 2 175262133 . G . . NT END=175263002;NT GT ./. 2 175263171 . G . . NT END=175264649;NT GT ./. 2 175264627 rs539287606 C CTT 58 idl,rn VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=3;NP=6;PC=0.800;Gene=SCRN3/NM_001193528.1/1;CC=c.139-6_139-5dupTT;VC=Intron;Gene=SCRN3/NM_024583.4/0;CC=c.160-6_160-5dupTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTT,D:43:49:26:5:20,1,19,3:639,8,832,159:0.00,-0.06,58.01,6.81:0.00,-0.04,46.05,8.14:0.00,-0.02,11.97,-1.34:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:60,60,60,60:31.3,8.0,82.0,56.3:0,0,7,2:0,0,0,0:99,92,28,47:19,19,115,104:30,0,14,28:-,NM_024583.4(SCRN3) c.160-23_160-22insTT:-,NOT_FOUND:-,NOT_FOUND 2 175264832 . G . . NT END=175265717;NT GT ./. 2 175265918 . G . . NT END=175268830;NT GT ./. 2 175269044 . G . . NT END=175287612;NT GT ./. 2 175287776 . G . . NT END=175289202;NT GT ./. 2 175289378 . G . . NT END=175292440;NT GT ./. 2 175292326 rs7591631 C A 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.5761,A/0.4239;Gene=SCRN3/NM_001193528.1/1;CC=c.1072-115C>A;VC=Intron;Gene=SCRN3/NM_024583.4/0;CC=c.1093-115C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:A:18:18:0:0:18:538:62.35:62.35:0.00:1.00:1.00:0.00:60:40.4:0:0:51:100:41:NM_024583.4(SCRN3) c.1093-115C>A,NM_024583.4(SCRN3) c.1093-115C>A:0.39,0.39:NOT_FOUND,NOT_FOUND 2 175292624 . T . . NT END=175300843;NT GT ./. 2 175301145 . C . . NT END=175304625;NT GT ./. 2 175304621 rs67227536 C G 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.9639,G/0.03614;PC=0.998;Gene=GPR155/NM_001033045.3/1;CC=c.2312+5G>C;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.2312+5G>C;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.2228+5G>C;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.2312+5G>C;VC=Intron;DM=GPR155/DEP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:32:24:0:0:17,15:562,463:0.00,43.83:0.00,30.63:0.00,13.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,35.2:0,0:0,0:68,54:82,85:21,35:-,NM_001033045.3(GPR155) c.2312+5G>C:-,0.01:-,0.02422 2 175304764 . C . . NT END=175306846;NT GT ./. 2 175306912 . C . . NT END=175309808;NT GT ./. 2 175309905 . C . . NT END=175311338;NT GT ./. 2 175310003 rs35783513 A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6869,G/0.3131;PC=0.024;Gene=GPR155/NM_001033045.3/1;CC=c.2014-99T>C;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.2014-99T>C;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1930-99T>C;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.2014-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:168:19.64:2.77:16.87:1.00:1.00:1.00:60:52.7:0:0:69:81:30:NM_001033045.3(GPR155) c.2014-99T>C,NM_001033045.3(GPR155) c.2014-99T>C:0.3,0.3:NOT_FOUND,NOT_FOUND 2 175310029 rs10168192 C G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2638,G/0.7362;PC=0.002;Gene=GPR155/NM_001033045.3/1;CC=c.2014-125G>C;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.2014-125G>C;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1930-125G>C;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.2014-125G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:137:15.61:0.00:15.61:1.00:0.00:1.00:60:62.5:0:0:94:57:1:NM_001033045.3(GPR155) c.2014-125G>C,NM_001033045.3(GPR155) c.2014-125G>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 175310881 rs12614823 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6186,G/0.3814;PC=0.004;Gene=GPR155/NM_001033045.3/1;CC=c.2013+458T>C;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.2013+458T>C;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1929+458T>C;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.2013+458T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:4:4:0:0:1,3:13,93:0.00,9.78:0.00,9.78:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,33.3:0,0:0,0:2,39:147,112:0,26:-,NM_001033045.3(GPR155) c.2013+458T>C:-,0.4:-,NOT_FOUND 2 175311194 rs1562756 T A 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.02616,A/0.9738;Gene=GPR155/NM_001033045.3/1;CC=c.2013+145A>T;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.2013+145A>T;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1929+145A>T;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.2013+145A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:19:0:0:20:650:74.54:70.66:3.88:1.00:1.00:1.00:60:36.7:0:0:24:126:13:NM_001033045.3(GPR155) c.2013+145A>T,NM_001033045.3(GPR155) c.2013+145A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 175311476 . C . . NT END=175318464;NT GT ./. 2 175311629 rs34770618 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7332,C/0.2668;PC=0.997;Gene=GPR155/NM_001033045.3/1;CC=c.1877-154A>G;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.1877-154A>G;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1793-154A>G;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.1877-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:C:12:0:0:0:12:307:36.21:0.00:36.21:1.00:0.00:1.00:60:29.3:0:0:120:29:14:NM_001033045.3(GPR155) c.1877-154A>G,NM_001033045.3(GPR155) c.1877-154A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 2 175318387 rs373620317 C CAA 23 idl,nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=8;PC=0.364;Gene=GPR155/NM_001033045.3/1;CC=c.1876+77_1876+78insTT;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.1876+77_1876+78insTT;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1792+77_1792+78insTT;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.1876+77_1876+78insTT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,CAA:10:13:10:0:3,7:100,322:0.00,23.15:0.00,23.15:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:21.0,87.0:0,3:0,0:136,69:14,82:14,28:-,NM_001033045.3(GPR155) c.1876+77_1876+78insTT:-,NOT_FOUND:-,NOT_FOUND 2 175318396 rs568126293 G A 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3504,A/0.6496;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.8155,GA/0.1845;NP=1;NP=10;NP=4;NP=952;PC=0.313;Gene=GPR155/NM_001033045.3/1;CC=c.1876+69C>T;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.1876+69C>T;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1792+69C>T;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.1876+69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:457:52.38:48.50:3.88:1.00:1.00:1.00:60:49.1:0:0:40:109:29:NM_001033045.3(GPR155) c.1876+69C>T,NM_001033045.3(GPR155) c.1876+69C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 175318570 . C . . NT END=175324605;NT GT ./. 2 175324817 . C . . NT END=175326129;NT GT ./. 2 175326221 . C . . NT END=175326315;NT GT ./. 2 175326401 . C . . NT END=175330512;NT GT ./. 2 175330631 . C . . NT END=175331271;NT GT ./. 2 175331356 . C . . NT END=175333639;NT GT ./. 2 175333426 rs1430186 G C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1274,C/0.8726;PC=0.031;Gene=GPR155/NM_001033045.3/1;CC=c.1182+214C>G;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.1182+214C>G;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1182+214C>G;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.1182+214C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:137:15.61:15.61:0.00:1.00:1.00:0.00:60:34.2:0:0:81:68:29:NM_001033045.3(GPR155) c.1182+214C>G,NM_001033045.3(GPR155) c.1182+214C>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 175333796 . C . . NT END=175335117;NT GT ./. 2 175335076 rs2358637 G T 148 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.005591,T/0.9944;NP=3297;PC=0.062;Gene=GPR155/NM_001033045.3/1;CC=c.1026+42C>A;VC=Intron;Gene=GPR155/NM_001267050.1/0;CC=c.1026+42C>A;VC=Intron;Gene=GPR155/NM_001267051.1/0;CC=c.1026+42C>A;VC=Intron;Gene=GPR155/NM_152529.6/0;CC=c.1026+42C>A;VC=Intron;DM=GPR155/Mem_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:33:0:0:38:1297:147.82:115.27:32.55:1.00:1.00:1.00:60:40.4:0:0:42:104:26:NM_001033045.3(GPR155) c.1026+42C>A,NM_001033045.3(GPR155) c.1026+42C>A:1,1:0.995301,0.995301 2 175335284 . C . . NT END=175337692;NT GT ./. 2 175338093 . C . . NT END=175346224;NT GT ./. 2 175346685 . T . . NT END=175426828;NT GT ./. 2 175427000 rs41270197 T A 162 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=T/0.9942,A/0.005791;NP=6;PC=0.001;Gene=WIPF1/NM_003387.4/0;CC=c.*275A>T;VC=3UTR;Gene=WIPF1/NM_001077269.1/1;CC=c.*275A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:129:92:0:0:57,2,70:1726,18,2298:161.77,-0.23,0.00:82.34,-0.26,0.00:79.43,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.8,43.5,3.2:0,0,0:0,0,0:69,53,62:80,98,80:39,19,28:NM_001077269.1(WIPF1) c.*275A>T,-:0.01,-:NOT_FOUND,- 2 175427331 . C . . NT END=175431797;NT GT ./. 2 175431707 rs2163236 C G 44 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.4716,G/0.5284;Gene=WIPF1/NM_003387.4/0;CC=c.1456+91G>C;VC=Intron;Gene=WIPF1/NM_001077269.1/1;CC=c.1456+91G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:24:0:0:10,14:314,445:0.00,44.07:0.00,44.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.2,41.4:0,0:0,0:38,47:112,104:26,32:-,NM_001077269.1(WIPF1) c.1456+91G>C:-,0.57:-,NOT_FOUND 2 175431912 . C . . NT END=175432588;NT GT ./. 2 175431990 rs34258448 AAGAG A 35 nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=AAGAG/0.8047,A/0.1953;DB;DBA=NA;PAF=AAGAG/0.8047,A/0.1953;DB;DBA=NA;PAF=AAGAG/0.8047,A/0.1953;NP=1068;Gene=WIPF1/NM_003387.4/0;CC=c.1343-83_1343-80delCTCT;VC=Intron;Gene=WIPF1/NM_001077269.1/1;CC=c.1343-83_1343-80delCTCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAGAG,A:38:5:0:12:26,12:827,393:0.00,34.73:0.00,3.05:0.00,31.69:0.00,1.00:0.00,0.84:0.00,1.00:60,60:17.5,6.3:0,0:0,0:95,92:56,58:36,27:-,NM_001077269.1(WIPF1) c.1343-83_1343-80delCTCT:-,0.21:-,NOT_FOUND 2 175432098 rs3815969 G A 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4786,A/0.5214;Gene=WIPF1/NM_003387.4/0;CC=c.1343-187C>T;VC=Intron;Gene=WIPF1/NM_001077269.1/1;CC=c.1343-187C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,G,T:13:0:0:0:7,5,1:180,141,10:17.78,0.00,0.30:0.00,0.00,0.00:17.78,0.00,0.30:0.99,0.00,0.00:0.00,0.00,0.00:0.99,0.00,0.00:60,60,60:61.0,6.6,214.0:0,0,0:0,0,0:122,117,121:29,34,19:18,31,0:NM_001077269.1(WIPF1) c.1343-187C>T,-:0.57,-:NOT_FOUND,- 2 175432802 . C . . NT END=175436403;NT GT ./. 2 175436940 rs4972450 G A 707 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=184;DB;DBA=NA;PAF=G/0.09205,A/0.9079;PC=0.991;Gene=WIPF1/NM_003387.4/0;CC=c.593C>T;ProtCh=p.P198L;VC=Missense;Gene=WIPF1/NM_001077269.1/1;CC=c.593C>T;ProtCh=p.P198L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:184:116:0:0:183,1:6206,5:706.66,0.00:321.70,0.00:384.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,16.0:0,0:0,0:80,87:67,64:30,0:NM_001077269.1(WIPF1) c.593C>T (p.Pro198Leu),NM_001077269.1(WIPF1) c.593C>T (p.Pro198Leu):0.95,0.95:0.923,0.923 2 175437175 . C . . NT END=175439931;NT GT ./. 2 175440109 . C . . NT END=175446037;NT GT ./. 2 175440316 rs11675139 G A 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4463,A/0.5537;Gene=WIPF1/NM_003387.4/0;CC=c.182-208C>T;VC=Intron;Gene=WIPF1/NM_001077269.1/1;CC=c.182-208C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:25:0:0:0:12,12,1:389,387,8:37.40,0.00,-0.01:0.00,0.00,0.00:37.40,0.00,-0.01:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.2,13.0,69.0:0,0,0:0,0,0:61,52,141:89,99,-10:17,21,0:NM_001077269.1(WIPF1) c.182-208C>T,-:0.59,-:NOT_FOUND,- 2 175446168 . C . . NT END=175450250;NT GT ./. 2 175450302 . C . . NT END=175612851;NT GT ./. 2 175450451 rs74884614 G C 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.9904,C/0.009585;Gene=WIPF1/NM_003387.4/0;CC=c.-38-112C>G;VC=Intron;Gene=WIPF1/NM_001077269.1/1;CC=c.-38-112C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:28:0:0:0:13,15:409,511:38.68,0.00:0.00,0.00:38.68,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.4,0.0:0,0:0,0:108,136:43,14:37,8:NM_001077269.1(WIPF1) c.-38-112C>G,-:0.01,-:NOT_FOUND,- 2 175539631 rs558392872 TAC T 6 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;PC=0.003;Gene=WIPF1/NM_001077269.1/1;CC=c.-39+7869_-39+7870delGT;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TAC,T:3:7:0:7:1,2:34,226:0.00,6.33:0.00,3.16:0.00,3.16:0.00,0.37:0.00,0.84:0.00,0.69:60,60:31.0,133.0:0,5:0,0:107,34:44,116:0,21:-,NM_001077269.1(WIPF1) c.-39+7869_-39+7870delGT:-,NOT_FOUND:-,NOT_FOUND 2 175539676 rs576751803 A G 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3882,G/0.6118;DB;DBA=NA;PAF=NA;Gene=WIPF1/NM_001077269.1/1;CC=c.-39+7826T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:7:6:0:0:4,3:142,81:0.00,7.45:0.00,2.53:0.00,4.92:0.00,0.69:0.00,0.95:0.00,0.89:60,60:20.5,63.0:0,0:0,0:67,56:83,95:7,42:-,NM_001077269.1(WIPF1) c.-39+7826T>C:-,0.57:-,NOT_FOUND 2 175584979 rs13020091 C G 182 nt VT=SNV;PN=G;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.5697,G/0.4303;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,G,T:61:30:0:0:8,52,1:264,1678,12:0.00,182.22,0.17:0.00,50.39,-0.05:0.00,131.83,0.22:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:44,44,33:4.0,40.5,243.0:0,0,0:0,0,0:32,92,22:117,58,129:27,30,0:-,NR_002315.1(H3F3AP4) n.452C>G:-,NOT_FOUND:-,NOT_FOUND 2 175585078 . C CAA 13 sb;idl,rn VT=INS;SST=Single;DP=44;PC=1.000;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,CAA,D:40:16:11:3:31,8,1:848,255,57:0.00,13.07,1.83:0.00,-0.87,-0.10:0.00,13.94,1.93:0.00,0.97,0.00:0.00,0.92,0.00:0.00,1.00,0.00:46,40,40:26.2,122.4,87.0:0,3,1:0,0,0:93,122,114:48,29,36:28,5,16:-,NR_002315.1(H3F3AP4) n.552A[18]:-,NOT_FOUND:-,NOT_FOUND 2 175605206 rs371075551 C CTCTGTGTG 14 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=8;PC=0.074;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CTCTGTGTG:4:6:6:0:4:191:14.30:12.30:2.00:0.93:0.93:0.97:70:12.0:2:0:68:66:16:chr2 g.175605206_175605207insTCTGTGTG (intergenic),chr2 g.175605206_175605207insTCTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 175612984 . C . . NT END=175613307;NT GT ./. 2 175613059 rs3816448 A C 97 nt VT=SNV;PN=A;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.6334,C/0.3666,G/.;Gene=CHRNA1/NM_000079.3/0;CC=c.1243-76T>G;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.1318-76T>G;VC=Intron;DM=CHRNA1/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:68:24:0:0:34,34:1075,1018:0.00,97.47:0.00,23.79:0.00,73.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.5,57.4:0,0:0,0:107,100:43,51:19,37:-,NM_001039523.2(CHRNA1) c.1318-76T>G:-,0.37:-,NOT_FOUND 2 175613115 rs2255918 G A 165 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.2482,A/0.7518;Gene=CHRNA1/NM_000079.3/0;CC=c.1243-132C>T;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.1318-132C>T;VC=Intron;DM=CHRNA1/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:24:0:0:47:1423:164.57:87.94:76.64:1.00:1.00:1.00:60:61.3:0:0:67:68:45:NM_001039523.2(CHRNA1) c.1318-132C>T,NM_001039523.2(CHRNA1) c.1318-132C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 2 175613169 rs2305414 A C 68 nt VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.627,C/0.373;Gene=CHRNA1/NM_000079.3/0;CC=c.1242+139T>G;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.1317+139T>G;VC=Intron;DM=CHRNA1/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:51:36:0:0:28,23:863,720:0.00,67.75:0.00,47.26:0.00,20.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.6,62.5:0,0:0,0:69,50:81,101:38,25:-,NM_001039523.2(CHRNA1) c.1317+139T>G:-,0.42:-,NOT_FOUND 2 175613548 . C . . NT END=175614673;NT GT ./. 2 175613600 rs2646159 T C 182 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.1168,C/0.8832;PC=0.013;Gene=CHRNA1/NM_000079.3/0;CC=c.1003-53A>G;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.1078-53A>G;VC=Intron;DM=CHRNA1/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:C:50:23:0:0:50:1584:182.09:51.25:130.84:1.00:1.00:1.00:60:35.6:0:0:98:50:29:NM_001039523.2(CHRNA1) c.1078-53A>G,NM_001039523.2(CHRNA1) c.1078-53A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 175614898 . C . . NT END=175618230;NT GT ./. 2 175614908 rs548745604 CAA C 51 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=CAA/0.1819,C/0.8181;DB;DBA=NA;PAF=CAA/0.1819,C/0.8181;NP=34;Gene=CHRNA1/NM_000079.3/0;CC=c.779-13_779-12delTT;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.854-13_854-12delTT;VC=Intron;DM=CHRNA1/Neur_chan_memb;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAA,C:37:23:0:27:19,18:582,780:0.00,50.72:0.00,16.66:0.00,34.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.4,25.2:0,8:0,0:135,107:7,43:9,16:-,NM_001039523.2(CHRNA1) c.854-13_854-12delTT:-,NOT_FOUND:-,NOT_FOUND 2 175618469 . C . . NT END=175618946;NT GT ./. 2 175619143 . C . . NT END=175622293;NT GT ./. 2 175622178 rs398080830 TG T 44 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TG/0.269,T/0.731;DB;DBA=NA;PAF=TG/0.269,T/0.731;DB;DBA=NA;PAF=TG/0.269,T/0.731;NP=1904;PC=0.981;Gene=CHRNA1/NM_000079.3/0;CC=c.344+115delC;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.419+115delC;VC=Intron;DM=CHRNA1/Neur_chan_LBD;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:12:12:379:43.62:43.62:0.00:1.00:1.00:0.00:60:8.2:0:0:37:114:20:NM_001039523.2(CHRNA1) c.419+115delC,NM_001039523.2(CHRNA1) c.419+115delC:0.79,0.79:NOT_FOUND,NOT_FOUND 2 175622404 . C . . NT END=175622673;NT GT ./. 2 175622749 . C . . NT END=175624058;NT GT ./. 2 175622788 rs2646164 G A 159 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.001797,A/0.9982;Gene=CHRNA1/NM_000079.3/0;CC=c.235-385C>T;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.235-40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:A,C:42:28:0:0:41,1:1395,11:158.62,0.26:70.20,0.00:88.43,0.26:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,72.0:0,0:0,0:81,140:53,10:25,0:NM_001039523.2(CHRNA1) c.235-40C>T,NM_001039523.2(CHRNA1) c.235-40C>T:1,1:0.99777,0.99777 2 175622907 rs2600687 T C 44 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.09784,C/0.9022;PC=0.002;Gene=CHRNA1/NM_000079.3/0;CC=c.235-504A>G;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.235-159A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:1:0:0:13:376:43.78:1.99:41.79:1.00:1.00:1.00:60:42.3:0:0:111:40:33:NM_001039523.2(CHRNA1) c.235-159A>G,NM_001039523.2(CHRNA1) c.235-159A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 175624104 . C . . NT END=175624215;NT GT ./. 2 175624107 rs397986745 GA G 152 rn VT=DEL;SST=Single;DP=107;DB;DBA=NA;PAF=GA/0.7246,G/0.2754;DB;DBA=NA;PAF=GA/0.7246,G/0.2754;NP=1903;PC=0.740;Gene=CHRNA1/NM_000079.3/0;CC=c.190-5delT;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.190-5delT;VC=Intron;DM=CHRNA1/Neur_chan_LBD;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GA,G:107:96:0:50:1,56,50:11,1770,1598:-0.10,0.00,151.85:-0.04,0.00,125.32:-0.06,0.00,26.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,12.3,6.1:0,0,0:0,0,0:114,66,58:35,76,87:0,31,27:-,NM_001039523.2(CHRNA1) c.190-5delT:-,NOT_FOUND:-,0.355511 2 175624362 . C . . NT END=175629079;NT GT ./. 2 175624597 rs1376865 G A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3051,A/0.6949;PC=0.024;Gene=CHRNA1/NM_000079.3/0;CC=c.44-236C>T;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.44-236C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:1:0:0:11:301:35.29:3.38:31.91:1.00:1.00:1.00:60:49.4:0:0:96:54:35:NM_001039523.2(CHRNA1) c.44-236C>T,NM_001039523.2(CHRNA1) c.44-236C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 2 175624657 rs71407150 TACAC T 11 sb;idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=77;Gene=CHRNA1/NM_000079.3/0;CC=c.44-300_44-297delGTGT;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.44-300_44-297delGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:TACAC,T:5:4:0:8:1,4:31,228:0.00,10.84:0.00,-0.40:0.00,11.24:0.00,0.85:0.00,0.91:0.00,0.85:60,60:33.0,65.8:0,4:0,0:145,78:6,66:0,18:-,NM_001039523.2(CHRNA1) c.44-300_44-297delGTGT:-,NOT_FOUND:-,NOT_FOUND 2 175628847 rs2600684 T C 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.001997,C/0.998;NP=144;Gene=CHRNA1/NM_000079.3/0;CC=c.43+233A>G;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.43+233A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:135:15.84:15.84:0.00:1.00:1.00:0.00:60:44.6:0:0:17:134:17:NM_001039523.2(CHRNA1) c.43+233A>G,NM_001039523.2(CHRNA1) c.43+233A>G:1,1:NOT_FOUND,NOT_FOUND 2 175629021 rs7560774 C A 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.7192,A/0.2808;Gene=CHRNA1/NM_000079.3/0;CC=c.43+59G>T;VC=Intron;Gene=CHRNA1/NM_001039523.2/1;CC=c.43+59G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:30:0:0:21,16:605,523:59.46,0.00:44.53,0.00:14.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.7,2.1:0,0:0,0:40,47:111,103:21,20:NM_001039523.2(CHRNA1) c.43+59G>T,-:0.34,-:0.364433,- 2 175629123 . G . . NT END=175664843;NT GT ./. 2 175665016 . C . . NT END=175666434;NT GT ./. 2 175665215 rs2600673 A G 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5088,G/0.4912;Gene=CHN1/NM_001206602.1/0;CC=c.834-200T>C;VC=Intron;Gene=CHN1/NM_001822.5/1;CC=c.1209-200T>C;VC=Intron;Gene=CHN1/NM_001025201.3/0;CC=c.1131-200T>C;VC=Intron;Gene=CHN1/NR_038133.1/0;VC=NonCoding;DM=CHN1/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:376:42.85:0.00:42.85:1.00:0.00:1.00:60:38.5:0:0:108:43:22:NM_001822.5(CHN1) c.1209-200T>C,NM_001822.5(CHN1) c.1209-200T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 2 175666541 . C . . NT END=175673632;NT GT ./. 2 175666656 rs2646153 G A 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4329,A/0.5671;Gene=CHN1/NM_001206602.1/0;CC=c.728-116C>T;VC=Intron;Gene=CHN1/NM_001822.5/1;CC=c.1103-116C>T;VC=Intron;Gene=CHN1/NM_001025201.3/0;CC=c.1025-116C>T;VC=Intron;Gene=CHN1/NR_038133.1/0;VC=NonCoding;DM=CHN1/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:395:45.64:0.00:45.64:1.00:0.00:1.00:60:39.8:0:0:103:48:37:NM_001822.5(CHN1) c.1103-116C>T,NM_001822.5(CHN1) c.1103-116C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 2 175673771 . C . . NT END=175676238;NT GT ./. 2 175676317 . C . . NT END=175677036;NT GT ./. 2 175677022 rs12613075 C T 110 nt VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.6631,T/0.3369;Gene=CHN1/NM_001206602.1/0;CC=c.511+15G>A;VC=Intron;Gene=CHN1/NM_001822.5/1;CC=c.886+15G>A;VC=Intron;Gene=CHN1/NM_001025201.3/0;CC=c.808+15G>A;VC=Intron;Gene=CHN1/NR_038133.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:83:76:0:0:1,46,36:12,1525,1169:-0.06,0.00,109.64:-0.01,0.00,72.18:-0.05,0.00,37.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:129.0,9.8,39.6:0,0,0:0,0,0:136,57,51:15,89,98:0,35,25:-,NM_001822.5(CHN1) c.886+15G>A:-,0.35:-,0.359583 2 175677211 . C . . NT END=175689161;NT GT ./. 2 175689247 . C . . NT END=175711607;NT GT ./. 2 175689249 rs375494218 G GA 12 idl,rn VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=2;PC=0.994;Gene=CHN1/NM_001206602.1/0;CC=c.253-4dupT;VC=Intron;Gene=CHN1/NM_001822.5/1;CC=c.628-4dupT;VC=Intron;Gene=CHN1/NM_001025201.3/0;CC=c.550-4dupT;VC=Intron;Gene=CHN1/NR_038133.1/0;VC=NonCoding;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G,GA,D:47:38:5:4:1,39,5,2:8,1286,160,128:-0.23,0.00,11.61,4.28:-0.19,0.00,4.30,4.19:-0.04,0.00,7.32,0.09:0.00,0.00,0.73,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.93,0.00:60,60,60,60:37.0,10.1,19.8,7.0:0,0,0,2:0,0,0,0:81,88,77,90:70,56,68,59:0,15,5,35:-,NM_001822.5(CHN1) c.628-4_628-3insT:-,NOT_FOUND:-,NOT_FOUND 2 175689342 rs149952097 C CTATA 28 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6827,CTA/.,CTATA/0.3173;NP=2;PC=0.022;Gene=CHN1/NM_001206602.1/0;CC=c.253-100_253-97dupTATA;VC=Intron;Gene=CHN1/NM_001822.5/1;CC=c.628-100_628-97dupTATA;VC=Intron;Gene=CHN1/NM_001025201.3/0;CC=c.550-100_550-97dupTATA;VC=Intron;Gene=CHN1/NR_038133.1/0;VC=NonCoding;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,CTATA:16:2:11:0:6,10:193,305:0.00,27.63:0.00,-0.58:0.00,28.21:0.00,1.00:0.00,0.86:0.00,1.00:60,60:30.5,6.9:0,1:0,0:140,64:10,87:6,19:-,NM_001822.5(CHN1) c.628-97_628-96insTATA:-,NOT_FOUND:-,NOT_FOUND 2 175711942 rs14228 C T 152 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.6232,T/0.3768;PC=0.989;Gene=CHN1/NM_001206602.1/0;CC=c.-83G>A;VC=5UTR;Gene=CHN1/NM_001822.5/1;CC=c.550-257G>A;VC=Intron;Gene=CHN1/NM_001025201.3/0;CC=c.550-22696G>A;VC=Intron;Gene=CHN1/NR_038133.1/0;VC=NonCoding;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP;DM=CHN1/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:52:0:0:37,48:1204,1541:0.00,151.63:0.00,85.72:0.00,65.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,41.1:0,0:0,0:49,67:96,81:23,30:-,NM_001822.5(CHN1) c.550-257G>A:-,0.4:-,NOT_FOUND 2 175712347 . G . . NT END=175740515;NT GT ./. 2 175740594 . C . . NT END=175742567;NT GT ./. 2 175742857 . C . . NT END=175779785;NT GT ./. 2 175779900 . C . . NT END=175783261;NT GT ./. 2 175783014 rs6433509 C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.0003994,C/0.9996;NP=845;PC=0.001;Gene=CHN1/NM_001822.5/1;CC=c.146+248G>A;VC=Intron;Gene=CHN1/NM_001025201.3/0;CC=c.146+248G>A;VC=Intron;Gene=CHN1/NR_038133.1/0;VC=NonCoding;DM=CHN1/C1_1;DM=CHN1/C1_1;DM=CHN1/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:167:19.51:19.51:0.00:1.00:1.00:0.00:60:37.0:0:0:99:51:19:NM_001822.5(CHN1) c.146+248G>A,NM_001822.5(CHN1) c.146+248G>A:1,1:NOT_FOUND,NOT_FOUND 2 175783294 . C . . NT END=175809615;NT GT ./. 2 175809672 . C . . NT END=175816891;NT GT ./. 2 175816931 . C . . NT END=175869621;NT GT ./. 2 175870205 . G . . NT END=175939336;NT GT ./. 2 175939596 . C . . NT END=175939727;NT GT ./. 2 175939604 rs2302663 G A 112 nt VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.9235,A/0.07648;PC=0.001;Gene=ATF2/NM_001256090.1/1;CC=c.1292-41C>T;VC=Intron;Gene=ATF2/NM_001256091.1/0;CC=c.1238-41C>T;VC=Intron;Gene=ATF2/NM_001256092.1/0;CC=c.1118-41C>T;VC=Intron;Gene=ATF2/NM_001256093.1/0;CC=c.1118-9C>T;VC=Intron;Gene=ATF2/NM_001880.3/0;CC=c.1292-41C>T;VC=Intron;Gene=ATF2/NR_045768.1/0;VC=NonCoding;Gene=ATF2/NR_045769.1/0;VC=NonCoding;Gene=ATF2/NR_045770.1/0;VC=NonCoding;Gene=ATF2/NR_045771.1/0;VC=NonCoding;Gene=ATF2/NR_045772.1/0;VC=NonCoding;Gene=ATF2/NR_045773.1/0;VC=NonCoding;Gene=ATF2/NR_045774.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:31:0:0:35,27:1137,823:111.94,0.00:52.08,0.00:59.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,7.1:0,0:0,0:84,74:61,66:48,47:NM_001256090.1(ATF2) c.1292-41C>T,-:0.08,-:0.07167,- 2 175939762 rs79907460 A G 55 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.9824,G/0.01757,T/.;Gene=ATF2/NM_001256090.1/1;CC=c.1292-199T>C;VC=Intron;Gene=ATF2/NM_001256091.1/0;CC=c.1238-199T>C;VC=Intron;Gene=ATF2/NM_001256092.1/0;CC=c.1118-199T>C;VC=Intron;Gene=ATF2/NM_001256093.1/0;CC=c.1118-167T>C;VC=Intron;Gene=ATF2/NM_001880.3/0;CC=c.1292-199T>C;VC=Intron;Gene=ATF2/NR_045768.1/0;VC=NonCoding;Gene=ATF2/NR_045769.1/0;VC=NonCoding;Gene=ATF2/NR_045770.1/0;VC=NonCoding;Gene=ATF2/NR_045771.1/0;VC=NonCoding;Gene=ATF2/NR_045772.1/0;VC=NonCoding;Gene=ATF2/NR_045773.1/0;VC=NonCoding;Gene=ATF2/NR_045774.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:20:0:0:25,18:744,592:0.00,55.13:0.00,17.93:0.00,37.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,42.2:0,0:0,0:69,61:75,89:41,28:-,NM_001256090.1(ATF2) c.1292-199T>C:-,0.02:-,NOT_FOUND 2 175939816 . C . . NT END=175945387;NT GT ./. 2 175945338 rs12693057 G A 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8708,A/0.1292;PC=0.218;Gene=ATF2/NM_001256090.1/1;CC=c.1291+50C>T;VC=Intron;Gene=ATF2/NM_001256091.1/0;CC=c.1237+50C>T;VC=Intron;Gene=ATF2/NM_001256092.1/0;CC=c.1117+50C>T;VC=Intron;Gene=ATF2/NM_001256093.1/0;CC=c.1117+50C>T;VC=Intron;Gene=ATF2/NM_001880.3/0;CC=c.1291+50C>T;VC=Intron;Gene=ATF2/NR_045768.1/0;VC=NonCoding;Gene=ATF2/NR_045769.1/0;VC=NonCoding;Gene=ATF2/NR_045770.1/0;VC=NonCoding;Gene=ATF2/NR_045771.1/0;VC=NonCoding;Gene=ATF2/NR_045772.1/0;VC=NonCoding;Gene=ATF2/NR_045773.1/0;VC=NonCoding;Gene=ATF2/NR_045774.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:18:0:0:10,12:318,339:30.01,0.00:16.61,0.00:13.40,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:39.2,14.4:0,0:0,0:29,44:120,105:20,29:NM_001256090.1(ATF2) c.1291+50C>T,-:0.12,-:0.120022,- 2 175945494 . C . . NT END=175957788;NT GT ./. 2 175945502 rs397840342 GA G 43 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=GA/0.9237,G/0.07628;DB;DBA=NA;PAF=GA/0.9237,G/0.07628;NP=459;PC=1.000;Gene=ATF2/NM_001256090.1/1;CC=c.1186-10delT;VC=Intron;Gene=ATF2/NM_001256091.1/0;CC=c.1132-10delT;VC=Intron;Gene=ATF2/NM_001256092.1/0;CC=c.1012-10delT;VC=Intron;Gene=ATF2/NM_001256093.1/0;CC=c.1012-10delT;VC=Intron;Gene=ATF2/NM_001880.3/0;CC=c.1186-10delT;VC=Intron;Gene=ATF2/NR_045768.1/0;VC=NonCoding;Gene=ATF2/NR_045769.1/0;VC=NonCoding;Gene=ATF2/NR_045770.1/0;VC=NonCoding;Gene=ATF2/NR_045771.1/0;VC=NonCoding;Gene=ATF2/NR_045772.1/0;VC=NonCoding;Gene=ATF2/NR_045773.1/0;VC=NonCoding;Gene=ATF2/NR_045774.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:40:24:0:15:25,15:774,469:0.00,42.58:0.00,24.03:0.00,18.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,12.5:0,0:0,0:97,104:49,43:28,16:-,NM_001256090.1(ATF2) c.1186-10delT:-,0.08:-,0.072125 2 175950281 rs199946147 TACACACACAC T 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=21;PC=0.017;Gene=ATF2/NM_001256090.1/1;CC=c.1186-4798_1186-4789delGTGTGTGTGT;VC=Intron;Gene=ATF2/NM_001256091.1/0;CC=c.1132-4798_1132-4789delGTGTGTGTGT;VC=Intron;Gene=ATF2/NM_001256092.1/0;CC=c.1012-4798_1012-4789delGTGTGTGTGT;VC=Intron;Gene=ATF2/NM_001256093.1/0;CC=c.1012-4798_1012-4789delGTGTGTGTGT;VC=Intron;Gene=ATF2/NM_001880.3/0;CC=c.1186-4798_1186-4789delGTGTGTGTGT;VC=Intron;Gene=ATF2/NR_045768.1/0;VC=NonCoding;Gene=ATF2/NR_045769.1/0;VC=NonCoding;Gene=ATF2/NR_045770.1/0;VC=NonCoding;Gene=ATF2/NR_045771.1/0;VC=NonCoding;Gene=ATF2/NR_045772.1/0;VC=NonCoding;Gene=ATF2/NR_045773.1/0;VC=NonCoding;Gene=ATF2/NR_045774.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TACACACACAC,T:3:4:0:4:1,2:34,98:0.00,6.55:0.00,1.54:0.00,5.01:0.00,0.51:0.00,0.51:0.00,0.51:60,60:0.0,0.0:0,1:0,0:134,18:17,85:0,1:-,NM_001256090.1(ATF2) c.1186-4798_1186-4789delGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 175957533 rs16863030 A C 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9223,C/0.07768;PC=0.001;Gene=ATF2/NM_001256090.1/1;CC=c.1185+256T>G;VC=Intron;Gene=ATF2/NM_001256091.1/0;CC=c.1131+256T>G;VC=Intron;Gene=ATF2/NM_001256092.1/0;CC=c.1011+256T>G;VC=Intron;Gene=ATF2/NM_001256093.1/0;CC=c.1011+256T>G;VC=Intron;Gene=ATF2/NM_001880.3/0;CC=c.1185+256T>G;VC=Intron;Gene=ATF2/NR_045768.1/0;VC=NonCoding;Gene=ATF2/NR_045769.1/0;VC=NonCoding;Gene=ATF2/NR_045770.1/0;VC=NonCoding;Gene=ATF2/NR_045771.1/0;VC=NonCoding;Gene=ATF2/NR_045772.1/0;VC=NonCoding;Gene=ATF2/NR_045773.1/0;VC=NonCoding;Gene=ATF2/NR_045774.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,C,G:8:8:0:0:4,3,1:121,79,13:0.00,7.23,0.67:0.00,7.23,0.67:0.00,0.00,0.00:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.00,0.00:60,60,60:32.2,32.7,119.0:0,0,0:0,0,0:65,70,55:84,80,85:56,6,0:-,NM_001256090.1(ATF2) c.1185+256T>G:-,0.08:-,NOT_FOUND 2 175957996 . C . . NT END=175962171;NT GT ./. 2 175962322 . C . . NT END=175976295;NT GT ./. 2 175962485 rs2072537 A G 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9345,G/0.0655;Gene=ATF2/NM_001256090.1/1;CC=c.829-164T>C;VC=Intron;Gene=ATF2/NM_001256091.1/0;CC=c.775-164T>C;VC=Intron;Gene=ATF2/NM_001256092.1/0;CC=c.655-164T>C;VC=Intron;Gene=ATF2/NM_001256093.1/0;CC=c.655-164T>C;VC=Intron;Gene=ATF2/NM_001880.3/0;CC=c.829-164T>C;VC=Intron;Gene=ATF2/NR_045768.1/0;VC=NonCoding;Gene=ATF2/NR_045769.1/0;VC=NonCoding;Gene=ATF2/NR_045770.1/0;VC=NonCoding;Gene=ATF2/NR_045771.1/0;VC=NonCoding;Gene=ATF2/NR_045772.1/0;VC=NonCoding;Gene=ATF2/NR_045773.1/0;VC=NonCoding;Gene=ATF2/NR_045774.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:A,G:19:0:0:0:5,14:167,444:0.00,46.31:0.00,0.00:0.00,46.31:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.6,42.7:0,0:0,0:101,109:50,41:40,29:-,NM_001256090.1(ATF2) c.829-164T>C:-,0.07:-,NOT_FOUND 2 175976383 . C . . NT END=175978721;NT GT ./. 2 175978837 . C . . NT END=175978970;NT GT ./. 2 175979597 . C . . NT END=175982717;NT GT ./. 2 175982847 . C . . NT END=175982978;NT GT ./. 2 175983098 . C . . NT END=175986171;NT GT ./. 2 175986269 . C . . NT END=175994865;NT GT ./. 2 175994936 . C . . NT END=176001139;NT GT ./. 2 176001172 . A . . NT END=176043015;NT GT ./. 2 176035256 rs71031095 ATG A 18 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=413;PC=0.001;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:5:5:154:17.78:14.21:3.58:1.00:1.00:1.00:70:17.8:0:0:15:95:10:NM_001256090.1(ATF2) c.-334-u2324_-334-u2323delCA,NM_001256090.1(ATF2) c.-334-u2324_-334-u2323delCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 176042819 rs2288960 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8444,T/0.1556;Gene=ATP5G3/NM_001002258.4/0;CC=c.*197G>A;VC=3UTR;Gene=ATP5G3/NM_001190329.1/0;CC=c.*962G>A;VC=3UTR;Gene=ATP5G3/NM_001689.4/1;CC=c.*197G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:15:15:0:0:5,10:172,286:0.00,29.16:0.00,27.26:0.00,1.90:0.00,1.00:0.00,1.00:0.00,0.78:60,60:15.2,35.9:0,0:0,0:31,44:119,106:6,36:-,NM_001002258.4(ATP5G3) c.*197G>A:-,0.16:-,NOT_FOUND 2 176043498 . a . . NT END=176043698;NT GT ./. 2 176043618 rs268223 C T 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.2045,T/0.7955;Gene=ATP5G3/NM_001002258.4/0;CC=c.314+167G>A;VC=Intron;Gene=ATP5G3/NM_001190329.1/0;CC=c.*163G>A;VC=3UTR;Gene=ATP5G3/NM_001689.4/1;CC=c.314+167G>A;VC=Intron;DM=ATP5G3/ATP-synt_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:13:0:0:9,11:301,324:0.00,31.61:0.00,16.44:0.00,15.18:0.00,1.00:0.00,1.00:0.00,0.99:60,60:5.2,50.6:0,0:0,0:73,78:78,71:36,29:-,NM_001002258.4(ATP5G3) c.314+167G>A:-,0.8:-,NOT_FOUND 2 176043979 . C . . NT END=176044825;NT GT ./. 2 176044008 rs12615406 G T 83 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.8411,A/.,T/0.1589;PC=0.825;Gene=ATP5G3/NM_001002258.4/0;CC=c.121-30C>A;VC=Intron;Gene=ATP5G3/NM_001190329.1/0;CC=c.121-30C>A;VC=Intron;Gene=ATP5G3/NM_001689.4/1;CC=c.121-30C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:61:21:0:0:34,27:1019,881:0.00,82.83:0.00,18.05:0.00,64.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.9,35.0:0,0:0,0:84,107:66,41:43,34:-,NM_001002258.4(ATP5G3) c.121-30C>A:-,0.16:-,0.170306 2 176044136 rs268224 A T 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.2642,T/0.7358;Gene=ATP5G3/NM_001002258.4/0;CC=c.121-158T>A;VC=Intron;Gene=ATP5G3/NM_001190329.1/0;CC=c.121-158T>A;VC=Intron;Gene=ATP5G3/NM_001689.4/1;CC=c.121-158T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,T:21:1:0:0:5,16:160,530:0.00,55.63:0.00,1.93:0.00,53.70:0.00,1.00:0.00,0.84:0.00,1.00:60,60:23.2,38.5:0,0:0,0:63,104:87,46:16,23:-,NM_001002258.4(ATP5G3) c.121-158T>A:-,0.75:-,NOT_FOUND 2 176044907 . C . . NT END=176046082;NT GT ./. 2 176045832 rs268226 C A 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.009984,A/0.99;NP=394;Gene=ATP5G3/NM_001002258.4/0;CC=c.39+251G>T;VC=Intron;Gene=ATP5G3/NM_001190329.1/0;CC=c.39+251G>T;VC=Intron;Gene=ATP5G3/NM_001689.4/1;CC=c.39+251G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:38.2:0:0:31:120:31:NM_001002258.4(ATP5G3) c.39+251G>T,NM_001002258.4(ATP5G3) c.39+251G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 176046122 . C . . NT END=176793837;NT GT ./. 2 176046257 rs268227 C T 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.2234,T/0.7766;PC=0.004;Gene=ATP5G3/NM_001002258.4/0;CC=c.-136G>A;VC=5UTR;Gene=ATP5G3/NM_001190329.1/0;CC=c.-73-63G>A;VC=Intron;Gene=ATP5G3/NM_001689.4/1;CC=c.-73-63G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:2:0:0:13,17:350,536:0.00,52.83:0.00,3.33:0.00,49.50:0.00,1.00:0.00,0.84:0.00,1.00:60,60:8.8,50.5:0,0:0,0:93,86:58,65:52,47:-,NM_001002258.4(ATP5G3) c.-136G>A:-,0.79:-,NOT_FOUND 2 176170193 rs6748793 T A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:A,T:6:4:0:0:5,1:143,29:15.46,0.00:9.45,0.00:6.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,0.0:0,1:0,0:53,52:78,98:30,0:chr2 g.176170192T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 176707805 rs6737825 G T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.046 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:15:0:0:14,7:414,241:0.00,21.64:0.00,19.49:0.00,2.14:0.00,0.97:0.00,0.89:0.00,0.94:60,60:2.0,37.0:0,0:0,0:83,57:67,94:39,36:-,chr2 g.176707804G>T (intergenic):-,0.71:-,NOT_FOUND 2 176794928 . C . . NT END=176800435;NT GT ./. 2 176795003 rs71004249 A AAC 13 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.001;Gene=KIAA1715/NM_001305008.1/0;CC=c.1253-77_1253-76insGT;VC=Intron;Gene=KIAA1715/NM_001305009.1/1;CC=c.1148-77_1148-76insGT;VC=Intron;Gene=KIAA1715/NM_001305010.1/0;CC=c.1061-77_1061-76insGT;VC=Intron;Gene=KIAA1715/NM_001305011.1/0;CC=c.686-77_686-76insGT;VC=Intron;Gene=KIAA1715/NM_030650.2/0;CC=c.1055-77_1055-76insGT;VC=Intron;Gene=KIAA1715/NR_130941.1/0;VC=NonCoding;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,AAC,D:20:10:6:2:14,5,1:409,184,67:0.00,12.61,2.15:0.00,-0.67,-0.12:0.00,13.28,2.27:0.00,0.84,0.00:0.00,0.88,0.00:0.00,0.97,0.00:60,60,60:17.3,50.6,0.0:0,1,1:0,0,0:119,77,83:14,72,66:13,21,8:-,NM_030650.1(KIAA1715) c.1055-77_1055-76insGT:-,NOT_FOUND:-,NOT_FOUND 2 176800519 . C . . NT END=176802071;NT GT ./. 2 176802243 . C . . NT END=176803040;NT GT ./. 2 176803112 . C . . NT END=176804279;NT GT ./. 2 176804386 . C . . NT END=176812207;NT GT ./. 2 176812421 . C . . NT END=176829099;NT GT ./. 2 176829152 . C . . NT END=176829233;NT GT ./. 2 176829318 . C . . NT END=176832349;NT GT ./. 2 176832497 . T . . NT END=176835491;NT GT ./. 2 176835533 . C . . NT END=176844537;NT GT ./. 2 176844597 . C . . NT END=176856958;NT GT ./. 2 176857110 rs139155854 G T 51 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=8;PC=1.000;Gene=KIAA1715/NM_001305008.1/0;CC=c.304C>A;ProtCh=p.Q102K;VC=Missense;Gene=KIAA1715/NM_001305009.1/1;CC=c.106C>A;ProtCh=p.Q36K;VC=Missense;Gene=KIAA1715/NM_001305010.1/0;CC=c.221-109C>A;VC=Intron;Gene=KIAA1715/NM_001305011.1/0;CC=c.-113+3176C>A;VC=Intron;Gene=KIAA1715/NM_030650.2/0;CC=c.106C>A;ProtCh=p.Q36K;VC=Missense;Gene=KIAA1715/NR_130941.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:21:0:0:23,18:783,542:0.00,50.52:0.00,10.44:0.00,40.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,35.5:0,0:0,0:63,68:82,82:32,39:-,NM_030650.1(KIAA1715) c.106C>A (p.Gln36Lys):-,NOT_FOUND:-,0.000385 2 176857147 . C . . NT END=176857909;NT GT ./. 2 176857275 rs2885117 T C 42 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.3169,C/0.6831;Gene=KIAA1715/NM_001305008.1/0;CC=c.268-129A>G;VC=Intron;Gene=KIAA1715/NM_001305009.1/1;CC=c.70-129A>G;VC=Intron;Gene=KIAA1715/NM_001305010.1/0;CC=c.221-274A>G;VC=Intron;Gene=KIAA1715/NM_001305011.1/0;CC=c.-113+3011A>G;VC=Intron;Gene=KIAA1715/NM_030650.2/0;CC=c.70-129A>G;VC=Intron;Gene=KIAA1715/NR_130941.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:363:41.99:0.00:41.99:1.00:0.00:1.00:60:37.8:0:0:95:55:22:NM_030650.1(KIAA1715) c.70-129A>G,NM_030650.1(KIAA1715) c.70-129A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 176857952 . C . . NT END=176858872;NT GT ./. 2 176858163 rs12475053 A C 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8842,C/0.1158;Gene=KIAA1715/NM_001305008.1/0;CC=c.226-212T>G;VC=Intron;Gene=KIAA1715/NM_001305009.1/1;CC=c.28-212T>G;VC=Intron;Gene=KIAA1715/NM_001305010.1/0;CC=c.221-1162T>G;VC=Intron;Gene=KIAA1715/NM_001305011.1/0;CC=c.-113+2123T>G;VC=Intron;Gene=KIAA1715/NM_030650.2/0;CC=c.28-212T>G;VC=Intron;Gene=KIAA1715/NR_130941.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:314:35.69:0.00:35.69:1.00:0.00:1.00:60:41.2:0:0:90:61:43:NM_030650.1(KIAA1715) c.28-212T>G,NM_030650.1(KIAA1715) c.28-212T>G:0.14,0.14:NOT_FOUND,NOT_FOUND 2 176858993 . t . . NT END=176860280;NT GT ./. 2 176860313 . C . . NT END=176944834;NT GT ./. 2 176886016 rs565347033 GCACA G 7 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GCACA/0.3263,G/0.2779;DB;DBA=NA;PAF=GCACA/0.3263,G/0.2779;NP=5;PC=0.041;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:GCACA,G:5:5:0:5:2,3:46,91:0.00,6.76:0.00,3.24:0.00,3.53:0.00,0.73:0.00,0.96:0.00,0.89:60,60:84.0,88.3:0,1:0,0:55,45:80,91:19,31:-,chr2 g.176886017_176886020delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 176945012 rs1868101 G A 179 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=165;DB;DBA=NA;PAF=G/0.6074,A/0.3926;PC=0.009;Gene=EVX2/NM_001080458.1/1;CC=c.1254C>T;ProtCh=p.G418=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:165:103:0:1:70,1,94:1942,11,2955:178.97,-0.16,0.00:65.29,-0.11,0.00:113.69,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.8,11.0,10.4:0,0,0:0,0,0:90,28,82:53,123,65:30,0,28:NM_001080458.1(EVX2) c.1254C>T (p.(=)),-:0.29,-:NOT_FOUND,- 2 176945567 . C . . NT END=176946905;NT GT ./. 2 176947178 . C . . NT END=176948077;NT GT ./. 2 176947237 rs6758117 C T 132 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.5341,T/0.4659;PC=0.003;Gene=EVX2/NM_001080458.1/1;CC=c.428-60G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:87:34:0:0:43,44:1341,1372:0.00,131.97:0.00,33.59:0.00,98.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,50.9:0,0:0,0:92,93:55,54:27,25:-,NM_001080458.1(EVX2) c.428-60G>A:-,0.41:-,NOT_FOUND 2 176948505 . C . . NT END=176957618;NT GT ./. 2 176958400 . G . . NT END=176959207;NT GT ./. 2 176959113 rs71004256 GCA G 26 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=119;PC=0.008;Gene=HOXD13/NM_000523.3/1;CC=c.782-64_782-63delCA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCA,I,G:51:49:3:13:38,3,10:1036,100,411:0.00,6.74,26.31:0.00,5.61,18.24:0.00,1.13,8.07:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:17.1,22.0,7.1:0,0,3:0,0,0:41,20,33:109,131,96:28,2,23:-,NM_000523.3(HOXD13) c.782-94_782-93delCA:-,NOT_FOUND:-,NOT_FOUND 2 176959459 . T . . NT END=176964529;NT GT ./. 2 176965104 . G . . NT END=176965249;NT GT ./. 2 176965489 . C . . NT END=176972083;NT GT ./. 2 176972865 . G . . NT END=176973634;NT GT ./. 2 176972912 rs113128957 AG A 45 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=178;PC=0.996;Gene=HOXD11/NM_021192.2/1;CC=c.781+59delG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,G,A:42:20:0:20:17,10,15:470,243,543:0.00,20.75,45.19:0.00,-0.89,37.29:0.00,21.64,7.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.6,33.9,21.0:0,1,2:0,0,0:143,28,113:5,100,33:7,13,16:-,NM_021192.2(HOXD11) c.781+49delG:-,NOT_FOUND:-,NOT_FOUND 2 176973387 rs56323681 C CTGTG 12 idl,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=19;NP=2;NP=7;PC=0.297;Gene=HOXD11/NM_021192.2/1;CC=c.782-209_782-208insGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,CTGTG:8:8:6:0:4,4:106,189:0.00,12.13:0.00,7.41:0.00,4.73:0.00,0.84:0.00,0.97:0.00,0.46:60,60:19.2,30.8:0,2:0,0:115,47:20,103:28,16:-,NM_021192.2(HOXD11) c.782-248_782-247insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 176973871 . G . . NT END=176981561;NT GT ./. 2 176982307 . G . . NT END=176983681;NT GT ./. 2 176983598 rs559802024 CAAAACCAAAACA C 41 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=CAAAACCAAAACA/0.7582,C/0.2418;DB;DBA=NA;PAF=CAAAACCAAAACA/0.7582,C/0.2418;NP=658;PC=0.770;Gene=HOXD10/NM_002148.3/1;CC=c.746-78_746-67delCAAAACAAAAAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAAAACCAAAACA,C:26:25:0:14:12,14:393,425:0.00,41.38:0.00,36.34:0.00,5.04:0.00,1.00:0.00,1.00:0.00,0.96:60,60:3.8,5.7:0,0:0,0:22,54:128,96:16,23:-,NM_002148.3(HOXD10) c.746-83_746-72delAAAACCAAAACA:-,0.27:-,NOT_FOUND 2 176983960 . g . . NT END=176987496;NT GT ./. 2 176988314 . G . . NT END=176988661;NT GT ./. 2 176988904 . C . . NT END=176995094;NT GT ./. 2 176989023 rs711822 C CT 21 idl,rn VT=INS;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.3399,T/0.6601;Gene=HOXD9/NM_014213.3/1;CC=c.*131dupT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,CT,D:65:22:9:7:52,9,4:1632,276,198:0.00,20.80,8.83:0.00,4.31,1.05:0.00,16.50,7.78:0.00,0.97,0.00:0.00,0.90,0.00:0.00,1.00,0.00:60,70,60:13.7,11.3,17.8:0,0,2:0,0,0:128,108,99:23,43,50:16,19,16:-,NM_014213.3(HOXD9) c.*131dupT:-,NOT_FOUND:-,NOT_FOUND 2 176995302 rs557744341 G GCGCACC 127 PASS VT=INS;SST=Single;DP=161;DB;DBA=NA;PAF=G/0.9722,GCGCACC/0.02776,GCGCACCCGCACC/.;DB;DBA=NA;PAF=NA;NP=28;PC=0.998;Gene=HOXD8/NM_001199747.1/1;CC=c.-123-213_-123-208dupCACCCG;VC=Intron;Gene=HOXD8/NM_001199746.1/0;CC=c.217_222dupCACCCG;ProtCh=p.P74_S75insHP;VC=InFrameIns;Gene=HOXD8/NM_019558.3/0;CC=c.217_222dupCACCCG;ProtCh=p.P74_S75insHP;VC=InFrameIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GCGCACC:161:114:48:0:13,100,48:381,3225,1451:26.50,0.00,127.40:23.12,0.00,84.66:3.38,0.00,42.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:56.4,9.3,5.9:0,0,0:0,0,0:7,68,41:144,82,102:4,45,15:-,NM_019558.3(HOXD8) c.217_222dupCACCCG (p.His73_Pro74dup):-,NOT_FOUND:-,0.038641 2 176995672 . G . . NT END=176996044;NT GT ./. 2 176996341 . C . . NT END=177016361;NT GT ./. 2 177016728 rs34727427 T C 109 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.7636,C/0.2364;PC=0.994;Gene=HOXD4/NM_014621.2/1;CC=c.367T>C;ProtCh=p.S123P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:81:41:0:1:36,2,43:1155,24,1402:109.02,0.19,0.00:38.34,-0.16,0.00:70.68,0.35,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.2,76.5,12.2:0,0,0:0,0,0:92,120,90:55,31,58:27,9,22:NM_014621.2(HOXD4) c.367T>C (p.Ser123Pro),-:0.23,-:0.315299,- 2 177016796 . T . . NT END=177017335;NT GT ./. 2 177017671 . A . . NT END=177033842;NT GT ./. 2 177033779 rs72927183 C T 143 nt VT=SNV;PN=C;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=C/0.8243,T/0.1757;PC=0.990;Gene=HOXD3/NM_006898.4/1;CC=c.-64C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:104:90:0:0:57,47:1755,1518:0.00,143.06:0.00,106.70:0.00,36.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,37.8:0,0:0,0:79,70:71,80:33,33:-,NM_006898.4(HOXD3) c.-64C>T:-,0.19:-,NOT_FOUND 2 177034121 rs34729309 G T 251 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=183;DB;DBA=NA;PAF=G/0.8187,A/.,C/.,T/0.1813;PC=0.993;Gene=HOXD3/NM_006898.4/1;CC=c.279G>T;ProtCh=p.P93=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:183:124:0:0:1,102,80:13,3179,2667:-0.12,0.00,250.62:-0.01,0.00,112.75:-0.11,0.00,137.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:84.0,6.0,41.5:0,0,0:0,0,0:105,66,78:46,80,65:0,35,37:-,NM_006898.4(HOXD3) c.279G>T (p.(=)):-,0.19:-,0.279025 2 177034384 . G . . NT END=177036244;NT GT ./. 2 177036211 rs2857535 G A 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.4249,A/0.5751;Gene=HOXD3/NM_006898.4/1;CC=c.542-34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:54:0:0:26,33:853,1034:80.20,0.00:67.94,0.00:12.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,9.9:0,0:0,0:42,38:99,112:16,18:NM_006898.4(HOXD3) c.542-34G>A,-:0.52,-:0.399846,- 2 177036754 rs1051929 T C 654 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=172;DB;DBA=NA;PAF=T/0.1799,C/0.8201;PC=1.000;Gene=HOXD3/NM_006898.4/1;CC=c.1051T>C;ProtCh=p.L351=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:172:111:0:0:172:5718:653.77:319.90:333.87:1.00:1.00:1.00:60:38.3:0:0:76:71:34:NM_006898.4(HOXD3) c.1051T>C (p.(=)),NM_006898.4(HOXD3) c.1051T>C (p.(=)):0.76,0.76:0.750966,0.750966 2 177037003 . C . . NT END=177053529;NT GT ./. 2 177037183 rs148548656 G GTCT 11 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.8189,GTCT/0.1811,GTTC/.;NP=54;Gene=HOXD3/NM_006898.4/1;CC=c.*183_*184insTTC;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:G,GTCT:13:0:5:0:8,5:259,126:0.00,11.22:0.00,0.00:0.00,11.22:0.00,0.91:0.00,0.00:0.00,0.91:60,60:5.5,50.6:0,0:0,0:133,105:16,46:11,11:-,NM_006898.4(HOXD3) c.*183_*184insTTC:-,NOT_FOUND:-,NOT_FOUND 2 177053426 rs150457564 A C 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.9864,C/0.01358;PC=0.001;Gene=HAGLR/NR_033979.2/0;VC=NonCoding;Gene=HOXD1/NM_024501.2/1;CC=c.-104A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:56:55:0:0:32,24:1027,789:0.00,73.75:0.00,67.91:0.00,5.84:0.00,1.00:0.00,1.00:0.00,0.99:60,60:9.9,41.8:0,0:0,0:42,50:108,92:22,27:-,NM_024501.2(HOXD1) c.-104A>C:-,0.01:-,NOT_FOUND 2 177054182 . G . . NT END=177054276;NT GT ./. 2 177054410 . G . . NT END=177054535;NT GT ./. 2 177054411 rs13390932 T C 142 nt VT=SNV;PN=G;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.7544,C/0.2456;Gene=HOXD1/NM_024501.2/1;CC=c.653-125T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:83:43:0:0:43,40:1463,1198:141.91,0.00:66.79,0.00:75.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.8,17.2:0,0:0,0:78,66:73,75:35,33:NM_024501.2(HOXD1) c.653-125T>C,-:0.24,-:NOT_FOUND,- 2 177054871 . G . . NT END=177134357;NT GT ./. 2 177065778 rs59078662 G A 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.9585,A/0.04153;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:27:0:0:16,29:521,915:47.02,0.00:23.74,0.00:23.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,28.6:0,0:0,0:45,102:105,49:20,28:chr2 g.177065777G>A (intergenic),-:0.04,-:NOT_FOUND,- 2 177134398 . G . . NT END=177135040;NT GT ./. 2 177135148 . G . . NT END=177161587;NT GT ./. 2 177161636 . G . . NT END=177162576;NT GT ./. 2 177162624 . G . . NT END=177188119;NT GT ./. 2 177188193 . G . . NT END=177191552;NT GT ./. 2 177191630 . G . . NT END=177193020;NT GT ./. 2 177193114 . G . . NT END=177193601;NT GT ./. 2 177193641 . G . . NT END=177194028;NT GT ./. 2 177194155 . G . . NT END=177195311;NT GT ./. 2 177195389 . G . . NT END=177202220;NT GT ./. 2 177202393 . A . . NT END=178077527;NT GT ./. 2 177211740 rs560429421 TTGTGTG T 14 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=321;PC=0.091;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:6:4:196:14.10:3.70:10.40:0.93:0.97:0.99:70:19.8:2:0:63:66:39:chr2 g.177211741_177211746delTGTGTG (intergenic),chr2 g.177211741_177211746delTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 177378370 rs57403429 CAT C 9 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=113;PC=0.003;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:CAT,C:6:5:0:3:3,3:106,98:0.00,9.42:0.00,6.50:0.00,2.92:0.00,0.73:0.00,0.96:0.00,0.51:60,60:35.3,0.0:0,0:0,0:27,116:124,34:15,12:-,chr2 g.177378371_177378372delAT (intergenic):-,0.31:-,NOT_FOUND 2 177424650 rs7586535 T A 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=103 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,T:6:5:0:1:5,1:163,9:17.60,0.00:8.81,0.00:8.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.4,19.0:0,0:0,0:98,95:53,40:13,0:chr2 g.177424649T>A (intergenic),chr2 g.177424649T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 177430849 rs68016156 CCA C 8 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=416;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:CCA,C:4:2:0:3:1,3:27,78:0.00,8.23:0.00,5.43:0.00,2.80:0.00,0.85:0.00,0.95:0.00,0.99:60,60:0.0,82.7:0,0:0,0:148,53:2,98:0,5:-,chr2 g.177430850_177430851delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 177541015 rs9711049 C T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.001997,T/0.998;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:6:3:0:0:1,5:36,165:0.00,17.71:0.00,2.67:0.00,15.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.0,45.2:0,0:0,0:106,111:5,35:0,14:-,chr2 g.177541014C>T (intergenic):-,1:-,NOT_FOUND 2 177541592 rs10202329 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9265,G/0.07348 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:186:21.46:17.58:3.88:1.00:1.00:1.00:60:44.0:0:0:46:94:32:chr2 g.177541591A>G (intergenic),chr2 g.177541591A>G (intergenic):0.08,0.08:NOT_FOUND,NOT_FOUND 2 177744870 rs59733994 TACAC T 8 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=61;PC=0.005;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:TACAC,I,T:7:7:2:5:2,2,3:66,58,150:0.00,5.23,7.95:0.00,3.01,5.15:0.00,2.22,2.80:0.00,0.00,0.96:0.00,0.00,0.92:0.00,0.00,0.81:60,60,60:0.0,28.5,21.7:0,0,2:0,0,0:75,71,52:58,78,99:66,5,23:-,chr2 g.177744871_177744874delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 178062685 rs7368646 A C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3091,C/0.6909 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,C:7:7:0:0:4,3:105,100:0.00,9.37:0.00,7.56:0.00,1.80:0.00,0.69:0.00,0.69:0.00,0.62:60,60:41.8,82.3:0,0:0,0:28,102:122,48:20,0:-,chr2 g.178062684A>C (intergenic):-,0.6:-,NOT_FOUND 2 178062692 rs2364714 A C,AAC 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=276;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C,AAC:8:8:1:0:1,6,1:29,198,33:0.00,21.31,2.82:0.00,19.38,2.82:0.00,1.93,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.83,0.00:60,60,60:59.0,62.0,22.0:0,0,0:0,0,0:47,70,24:104,81,127:0,39,0:chr2 g.178062691A>C (intergenic),chr2 g.178062692_178062693insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 178062699 rs35050855 CA C 21 sb,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=140;PC=0.243;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:CA,C:7:7:0:7:1,6:33,194:0.00,21.01:0.00,19.11:0.00,1.90:0.00,1.00:0.00,1.00:0.00,0.90:60,60:53.0,56.8:0,0:0,0:74,56:77,94:0,42:-,chr2 g.178062700delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 178062747 rs3109083 G T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3411,T/0.6589;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:16:16:0:0:9,7:245,214:0.00,19.99:0.00,20.12:0.00,-0.12:0.00,0.98:0.00,0.98:0.00,0.62:60,60:39.1,50.9:0,0:0,0:60,26:91,125:33,9:-,chr2 g.178062746G>T (intergenic):-,0.68:-,NOT_FOUND 2 178062900 rs3109084 G A 101 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.1346,A/0.8654;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:15:0:0:27:881:100.93:40.68:60.25:1.00:1.00:1.00:60:35.3:0:0:104:42:13:chr2 g.178062899G>A (intergenic),chr2 g.178062899G>A (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 178063144 rs146959895 CTGGGCTCCAGCTTTGGCTCTGGCG C 20 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CTGGGCTCCAGCTTTGGCTCTGGCG/0.8654,C/0.1346;NP=67;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:CTGGGCTCCAGCTTTGGCTCTGGCG,C:11:5:0:6:5,6:163,200:0.00,19.57:0.00,9.86:0.00,9.71:0.00,0.98:0.00,0.98:0.00,0.99:60,60:0.0,0.0:0,0:0,0:126,47:25,103:13,8:-,chr2 g.178063145_178063168delTGGGCTCCAGCTTTGGCTCTGGCG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 178077600 . G . . NT END=178080266;NT GT ./. 2 178080390 . G . . NT END=178080477;NT GT ./. 2 178080625 . G . . NT END=178080705;NT GT ./. 2 178080917 . G . . NT END=178081230;NT GT ./. 2 178081321 . G . . NT END=178081403;NT GT ./. 2 178081500 . G . . NT END=178081587;NT GT ./. 2 178081669 . g . . NT END=178082432;NT GT ./. 2 178081962 rs5836592 TG T 19 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TG/0.105,T/0.895;DB;DBA=NA;PAF=TG/0.105,T/0.895;NP=276;Gene=HNRNPA3/NM_194247.2/1;CC=c.820+297delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:5:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:0.0:0:0:114:36:10:NM_194247.2(HNRNPA3) c.820+295delG,NM_194247.2(HNRNPA3) c.820+295delG:0.88,0.88:NOT_FOUND,NOT_FOUND 2 178082574 . G . . NT END=178083764;NT GT ./. 2 178083888 . G . . NT END=178083974;NT GT ./. 2 178084028 . A . . NT END=178095512;NT GT ./. 2 178096759 . C . . NT END=178097119;NT GT ./. 2 178097312 . C . . NT END=178097977;NT GT ./. 2 178098068 . C . . NT END=178098732;NT GT ./. 2 178099000 . C . . NT END=178128130;NT GT ./. 2 178128618 . T . . NT END=178129259;NT GT ./. 2 178128693 rs17524059 A C 281 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.8351,C/0.1649;Gene=NFE2L2/NM_001145412.2/0;CC=c.-566T>G;VC=5UTR;Gene=NFE2L2/NM_001145413.2/0;CC=c.-566T>G;VC=5UTR;Gene=NFE2L2/NM_001313900/0;CC=c.-440T>G;VC=5UTR;Gene=NFE2L2/NM_001313901/0;CC=c.-532T>G;VC=5UTR;Gene=NFE2L2/NM_001313904/0;CC=c.-747T>G;VC=5UTR;Gene=NFE2L2/NM_001313902/0;CC=c.45+567T>G;VC=Intron;Gene=NFE2L2/NM_001313903/0;CC=c.45+567T>G;VC=Intron;Gene=NFE2L2/NM_006164.4/1;CC=c.45+567T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:84:26:0:0:84:2420:281.28:58.94:222.34:1.00:1.00:1.00:60:43.7:0:0:100:43:22:NM_006164.4(NFE2L2) c.45+567T>G,NM_006164.4(NFE2L2) c.45+567T>G:0.21,0.21:NOT_FOUND,NOT_FOUND 2 178129305 . G . . NT END=178257517;NT GT ./. 2 178231480 rs397755408 T TTG 20 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5284,TTG/0.4716,TTGTG/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=192;NP=7;Gene=LOC100130691/NR_026966.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:T,TTG:8:5:6:0:2,6:58,190:0.00,19.91:0.00,7.28:0.00,12.63:0.00,1.00:0.00,1.00:0.00,0.85:60,60:16.0,8.3:0,0:0,0:20,54:130,89:17,30:-,NR_026966.1(LOC100130691) n.119+25820_119+25821insCA:-,NOT_FOUND:-,NOT_FOUND 2 178257214 rs3813259 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3173,A/0.6827;Gene=LOC100130691/NR_026966.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:107:12.56:12.56:0.00:1.00:1.00:0.00:60:40.2:0:0:18:133:8:NR_026966.1(LOC100130691) n.119+87C>T,NR_026966.1(LOC100130691) n.119+87C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 178257853 . G . . NT END=178258008;NT GT ./. 2 178258265 . G . . NT END=178284996;NT GT ./. 2 178258448 rs4893940 T C 52 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.115,C/0.885;PC=0.001;Gene=AGPS/NM_003659.3/1;CC=c.260+671T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:A,C,G:17:0:0:0:1,15,1:8,460,12:0.27,52.28,0.55:0.00,0.00,0.00:0.27,52.28,0.55:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:159.0,40.4,131.0:0,0,0:0,0,0:76,123,80:57,28,71:0,13,0:NM_003659.3(AGPS) c.260+671T>C,NM_003659.3(AGPS) c.260+671T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 178285087 . G . . NT END=178299054;NT GT ./. 2 178299146 . G . . NT END=178301491;NT GT ./. 2 178301167 rs6759567 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.105,C/0.895;PC=0.005;Gene=AGPS/NM_003659.3/1;CC=c.442-325T>C;VC=Intron;DM=AGPS/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:161:18.48:18.48:0.00:1.00:1.00:0.00:60:34.6:0:0:12:139:9:NM_003659.3(AGPS) c.442-325T>C,NM_003659.3(AGPS) c.442-325T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 178301428 rs3754989 C T 164 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.1146,T/0.8854;Gene=AGPS/NM_003659.3/1;CC=c.442-64C>T;VC=Intron;DM=AGPS/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:39:0:0:44:1432:164.18:122.69:41.50:1.00:1.00:1.00:60:35.4:0:0:52:95:26:NM_003659.3(AGPS) c.442-64C>T,NM_003659.3(AGPS) c.442-64C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 178301613 . G . . NT END=178301707;NT GT ./. 2 178301783 . G . . NT END=178305692;NT GT ./. 2 178305765 . G . . NT END=178307134;NT GT ./. 2 178307215 . G . . NT END=178310273;NT GT ./. 2 178307330 rs4893951 C T 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.237,T/0.763;Gene=AGPS/NM_003659.3/1;CC=c.789+116C>T;VC=Intron;DM=AGPS/FAD_binding_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:1:0:0:15:493:56.45:4.08:52.38:1.00:1.00:1.00:60:45.1:0:0:59:91:21:NM_003659.3(AGPS) c.789+116C>T,NM_003659.3(AGPS) c.789+116C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 178310355 . G . . NT END=178326620;NT GT ./. 2 178326476 rs199502426 C CT 7 idl,rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=2;NP=3;PC=0.084;Gene=AGPS/NM_003659.3/1;CC=c.871-129dupT;VC=Intron;DM=AGPS/FAD_binding_4;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:C,CT,D:22:24:3:4:17,3,2:528,93,116:0.00,7.04,4.36:0.00,7.04,4.36:0.00,0.00,0.00:0.00,0.47,0.00:0.00,0.47,0.00:0.00,0.00,0.00:60,60,60:38.1,23.7,170.0:0,0,2:0,0,0:65,36,6:66,115,144:45,23,2:-,NM_003659.3(AGPS) c.871-145_871-144insT:-,NOT_FOUND:-,NOT_FOUND 2 178326747 . G . . NT END=178333143;NT GT ./. 2 178326838 rs1979059 C G 79 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1048,G/0.8952;PC=0.010;Gene=AGPS/NM_003659.3/1;CC=c.996+92C>G;VC=Intron;DM=AGPS/FAD_binding_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:1:0:0:21:695:79.46:2.04:77.42:1.00:1.00:1.00:60:85.0:0:0:63:88:36:NM_003659.3(AGPS) c.996+92C>G,NM_003659.3(AGPS) c.996+92C>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 178326847 rs1979058 G A 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.3864,A/0.6136;PC=0.005;Gene=AGPS/NM_003659.3/1;CC=c.996+101G>A;VC=Intron;DM=AGPS/FAD_binding_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:0:0:0:20:652:74.70:0.00:74.70:1.00:0.00:1.00:60:87.5:0:0:70:80:31:NM_003659.3(AGPS) c.996+101G>A,NM_003659.3(AGPS) c.996+101G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 2 178326952 rs2166557 A G 23 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1146,G/0.8854;PC=0.319;Gene=AGPS/NM_003659.3/1;CC=c.996+206A>G;VC=Intron;DM=AGPS/FAD_binding_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:203:23.16:1.99:21.17:1.00:1.00:1.00:60:93.0:0:0:131:20:10:NM_003659.3(AGPS) c.996+206A>G,NM_003659.3(AGPS) c.996+206A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 178333253 . G . . NT END=178346786;NT GT ./. 2 178346915 . G . . NT END=178357875;NT GT ./. 2 178357644 rs377442248 T TAAA 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=18;PC=0.001;Gene=AGPS/NM_003659.3/1;CC=c.1234-232_1234-231insAAA;VC=Intron;DM=AGPS/FAD-oxidase_C;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TAAA:4:4:4:0:4:121:14.01:14.01:0.00:1.00:1.00:0.00:60:39.2:0:0:24:127:8:NM_003659.3(AGPS) c.1234-232_1234-231insAAA,NM_003659.3(AGPS) c.1234-232_1234-231insAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 178357645 rs72158809 G C 15 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3806,A/.,C/0.6194;DB;DBA=NA;PAF=NA;Gene=AGPS/NM_003659.3/1;CC=c.1234-231G>C;VC=Intron;DM=AGPS/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:39.2:4:0:28:123:8:NM_003659.3(AGPS) c.1234-231G>C,NM_003659.3(AGPS) c.1234-231G>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 178357928 . G . . NT END=178362416;NT GT ./. 2 178358072 rs1348849 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3161,T/0.6839;Gene=AGPS/NM_003659.3/1;CC=c.1285+145C>T;VC=Intron;DM=AGPS/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:104:12.21:0.00:12.21:1.00:0.00:1.00:60:47.5:0:0:110:24:18:NM_003659.3(AGPS) c.1285+145C>T,NM_003659.3(AGPS) c.1285+145C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 178362494 . G . . NT END=178364345;NT GT ./. 2 178362572 rs12468046 G A 41 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.09744,A/0.9026;Gene=AGPS/NM_003659.3/1;CC=c.1362+79G>A;VC=Intron;DM=AGPS/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:1:0:0:12:358:41.48:1.43:40.04:1.00:1.00:1.00:60:36.5:0:0:96:55:46:NM_003659.3(AGPS) c.1362+79G>A,NM_003659.3(AGPS) c.1362+79G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 178364459 . G . . NT END=178370233;NT GT ./. 2 178370040 rs10497504 T C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1124,C/0.8876;Gene=AGPS/NM_003659.3/1;CC=c.1476-194T>C;VC=Intron;DM=AGPS/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:279:32.16:32.16:0.00:1.00:1.00:0.00:60:40.9:0:0:50:101:37:NM_003659.3(AGPS) c.1476-194T>C,NM_003659.3(AGPS) c.1476-194T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 178370304 . G . . NT END=178372697;NT GT ./. 2 178372760 . G . . NT END=178378546;NT GT ./. 2 178378452 rs2364854 T A 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4577,A/0.5423;PC=0.052;Gene=AGPS/NM_003659.3/1;CC=c.1608-95T>A;VC=Intron;DM=AGPS/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:164:18.78:18.78:0.00:1.00:1.00:0.00:60:50.4:0:0:37:111:36:NM_003659.3(AGPS) c.1608-95T>A,NM_003659.3(AGPS) c.1608-95T>A:0.57,0.57:NOT_FOUND,NOT_FOUND 2 178378637 . G . . NT END=178385996;NT GT ./. 2 178386097 . G . . NT END=178388475;NT GT ./. 2 178388534 . G . . NT END=178402801;NT GT ./. 2 178402924 . A . . NT END=178415493;NT GT ./. 2 178417142 rs11694988 C T 931 lc VT=SNV;PN=G;NN=G;SST=Single;DP=263;DB;DBA=NA;PAF=C/0.1094,A/.,G/.,T/0.8906;PC=1.000;Gene=TTC30B/NM_152517.2/1;CC=c.350G>A;ProtCh=p.R117H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:263:165:0:0:1,262:5,8080:0.00,931.09:0.00,462.25:0.00,468.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:82.0,55.3:0,0:0,0:113,61:38,86:0,36:NM_152517.2(TTC30B) c.350G>A (p.Arg117His),NM_152517.2(TTC30B) c.350G>A (p.Arg117His):0.89,0.89:0.851838,0.851838 2 178417225 rs11695035 C T 1157 lc VT=SNV;PN=A;NN=A;SST=Single;DP=328;DB;DBA=NA;PAF=C/0.1094,T/0.8906;PC=0.520;Gene=TTC30B/NM_152517.2/1;CC=c.267G>A;ProtCh=p.L89=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:328:230:0:0:1,327:10,10028:0.03,1157.23:0.03,625.39:0.00,531.84:0.00,1.00:0.00,1.00:0.00,1.00:40,60:83.0,53.4:0,0:0,0:22,73:129,72:0,35:NM_152517.2(TTC30B) c.267G>A (p.(=)),NM_152517.2(TTC30B) c.267G>A (p.(=)):0.89,0.89:0.852177,0.852177 2 178417492 . A . . NT END=178481431;NT GT ./. 2 178443757 rs10199016 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4451,A/0.5549 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:163:18.68:13.02:5.67:1.00:1.00:1.00:60:118.8:0:0:55:95:34:chr2 g.178443756G>A (intergenic),chr2 g.178443756G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 178443762 rs10198869 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5433,T/0.4567 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:157:18.08:12.22:5.87:1.00:1.00:1.00:60:125.6:0:0:54:96:36:chr2 g.178443761C>T (intergenic),chr2 g.178443761C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 178443773 rs12466962 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2802,G/0.7198;NP=5;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:1:4:136:15.51:9.49:6.02:1.00:1.00:1.00:60:132.0:2:0:84:66:34:chr2 g.178443772A>G (intergenic),chr2 g.178443772A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 178443775 rs144790875 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2802,G/0.7198;NP=2;PC=0.062 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:5:4:0:0:2,3:65,74:0.00,7.31:0.00,5.88:0.00,1.43:0.00,0.78:0.00,0.97:0.00,0.87:60,60:131.0,122.0:0,3:0,0:120,55:31,95:13,10:-,chr2 g.178443774A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 178481818 rs10497497 G T 693 lc VT=SNV;PN=C;NN=A;SST=Single;DP=184;DB;DBA=NA;PAF=G/0.09944,T/0.9006;PC=1.000;Gene=TTC30A/NM_152275.3/1;CC=c.1612C>A;ProtCh=p.R538=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:184:131:0:0:1,183:10,6066:0.05,693.25:0.05,396.59:0.00,296.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,39.8:0,0:0,0:91,68:60,81:0,35:NM_152275.3(TTC30A) c.1612C>A (p.(=)),NM_152275.3(TTC30A) c.1612C>A (p.(=)):0.9,0.9:0.861987,0.861987 2 178482094 rs28630685 C T 461 lc VT=SNV;PN=A;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TTC30A/NM_152275.3/1;CC=c.1336G>A;ProtCh=p.V446I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:133:110:0:0:1,132:10,3986:0.08,460.57:0.08,380.16:0.00,80.41:0.00,1.00:0.00,1.00:0.00,1.00:40,40:227.0,41.8:0,0:0,0:40,65:93,85:0,39:NM_152275.3(TTC30A) c.1336G>A (p.Val446Ile),NM_152275.3(TTC30A) c.1336G>A (p.Val446Ile):0.84,0.84:NOT_FOUND,NOT_FOUND 2 178482594 rs61742858 G T 924 lc VT=SNV;PN=G;NN=G;SST=Single;DP=257;DB;DBA=NA;PAF=G/0.9211,T/0.07887;PC=1.000;Gene=TTC30A/NM_152275.3/1;CC=c.836C>A;ProtCh=p.P279H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:257:156:0:0:2,1,254:10,33,8067:0.03,0.00,924.17:-0.00,0.00,449.30:0.04,0.00,474.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:101.5,0.0,40.2:0,0,0:0,0,0:107,12,75:38,139,72:3,0,38:NM_152275.3(TTC30A) c.836C>A (p.Pro279His),NM_152275.3(TTC30A) c.836C>A (p.Pro279His):0.12,0.12:0.159696,0.159696 2 178483430 . A . . NT END=178494134;NT GT ./. 2 178494012 rs6734683 C G 76 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3399,G/0.6601;PC=0.675;Gene=PDE11A/NM_001077196.1/0;CC=c.*123G>C;VC=3UTR;Gene=PDE11A/NM_016953.3/0;CC=c.*123G>C;VC=3UTR;Gene=PDE11A/NM_001077197.1/1;CC=c.*123G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:22:0:0:22:654:75.83:73.84:1.99:1.00:1.00:1.00:60:49.0:0:0:68:82:45:NM_001077197.1(PDE11A) c.*123G>C,NM_001077197.1(PDE11A) c.*123G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 178494173 rs397723704 G GGGA 250 PASS VT=INS;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.4123,GCGA/.,GGA/.,GGGA/0.5877,GGGGA/.;DB;DBA=NA;PAF=G/0.4123,GGGA/0.5877;NP=2928;PC=0.454;Gene=PDE11A/NM_001077196.1/0;CC=c.1429_1431dupTCC;ProtCh=p.S477_P478insS;VC=InFrameIns;Gene=PDE11A/NM_016953.3/0;CC=c.2761_2763dupTCC;ProtCh=p.S921_P922insS;VC=InFrameIns;Gene=PDE11A/NM_001077197.1/1;CC=c.2011_2013dupTCC;ProtCh=p.S671_P672insS;VC=InFrameIns;Gene=PDE11A/NM_001077358.1/0;CC=c.1687_1689dupTCC;ProtCh=p.S563_P564insS;VC=InFrameIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:G,GGGA:78:60:71:0:7,71:234,2264:0.00,250.02:0.00,146.70:0.00,103.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,4.4:0,0:0,0:139,66:6,81:4,34:-,NM_001077197.1(PDE11A) c.2011_2013dupTCC (p.Ser671dup):-,NOT_FOUND:-,0.592891 2 178494291 . C . . NT END=178528593;NT GT ./. 2 178494520 rs12618542 A G 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3039,G/0.6961;Gene=PDE11A/NM_001077196.1/0;CC=c.1315-230T>C;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2647-230T>C;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1897-230T>C;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1573-230T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:0:0:0:11:304:35.56:0.00:35.56:1.00:0.00:1.00:60:63.9:0:0:108:42:16:NM_001077197.1(PDE11A) c.1897-230T>C,NM_001077197.1(PDE11A) c.1897-230T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 178494629 rs12997716 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4125,A/0.5875;Gene=PDE11A/NM_001077196.1/0;CC=c.1315-339C>T;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2647-339C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1897-339C>T;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1573-339C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:60.2:0:0:121:28:10:NM_001077197.1(PDE11A) c.1897-339C>T,NM_001077197.1(PDE11A) c.1897-339C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 2 178528351 rs3770003 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2105,C/0.7895;Gene=PDE11A/NM_001077196.1/0;CC=c.1314+243A>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2646+243A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1896+243A>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1572+243A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:120:13.90:13.90:0.00:1.00:1.00:0.00:60:97.5:0:0:18:133:4:NM_001077197.1(PDE11A) c.1896+243A>G,NM_001077197.1(PDE11A) c.1896+243A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 178528360 rs1544003 A G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2105,G/0.7895;Gene=PDE11A/NM_001077196.1/0;CC=c.1314+234T>C;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2646+234T>C;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1896+234T>C;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1572+234T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:144:16.75:16.75:0.00:1.00:1.00:0.00:60:84.6:0:0:24:127:8:NM_001077197.1(PDE11A) c.1896+234T>C,NM_001077197.1(PDE11A) c.1896+234T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 178528678 . C . . NT END=178534220;NT GT ./. 2 178528703 rs13025391 C T 148 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.1679,T/0.8321;Gene=PDE11A/NM_001077196.1/0;CC=c.1231-26G>A;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2563-26G>A;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1813-26G>A;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1489-26G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:23:0:0:40:1289:147.88:54.14:93.74:1.00:1.00:1.00:60:49.4:0:0:95:51:29:NM_001077197.1(PDE11A) c.1813-26G>A,NM_001077197.1(PDE11A) c.1813-26G>A:0.86,0.86:0.793172,0.793172 2 178528789 rs13025904 G A 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1679,A/0.8321;PC=1.000;Gene=PDE11A/NM_001077196.1/0;CC=c.1231-112C>T;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2563-112C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1813-112C>T;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1489-112C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:0:0:0:18:551:63.68:0.00:63.68:1.00:0.00:1.00:60:57.6:0:0:114:36:33:NM_001077197.1(PDE11A) c.1813-112C>T,NM_001077197.1(PDE11A) c.1813-112C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 178528874 rs3770005 T C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4467,C/0.5533;PC=1.000;Gene=PDE11A/NM_001077196.1/0;CC=c.1231-197A>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2563-197A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1813-197A>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1489-197A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:55.8:0:0:105:45:26:NM_001077197.1(PDE11A) c.1813-197A>G,NM_001077197.1(PDE11A) c.1813-197A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 178534296 . C . . NT END=178540182;NT GT ./. 2 178534324 rs6433687 A G 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1705,G/0.8295;Gene=PDE11A/NM_001077196.1/0;CC=c.1156-29T>C;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2488-29T>C;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1738-29T>C;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1414-29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:7:0:0:10:337:38.47:17.25:21.22:1.00:1.00:1.00:60:36.7:0:0:107:40:24:NM_001077197.1(PDE11A) c.1738-29T>C,NM_001077197.1(PDE11A) c.1738-29T>C:0.86,0.86:0.789789,0.789789 2 178539990 rs79495616 T TA 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;PC=0.452;Gene=PDE11A/NM_001077196.1/0;CC=c.1155+192dupT;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2487+192dupT;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1737+192dupT;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1413+192dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:T,TA,D:8:8:3:1:4,3,1:126,100,31:0.00,9.34,2.44:0.00,9.34,2.44:0.00,0.00,0.00:0.00,0.67,0.00:0.00,0.67,0.00:0.00,0.00,0.00:60,60,60:10.2,52.7,33.0:0,0,0:0,0,0:130,81,4:17,70,147:5,30,0:-,NM_001077197.1(PDE11A) c.1737+192_1737+193insT:-,NOT_FOUND:-,NOT_FOUND 2 178540023 rs3770015 G A 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2867,A/0.7133;Gene=PDE11A/NM_001077196.1/0;CC=c.1155+160C>T;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2487+160C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1737+160C>T;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1413+160C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:346:40.64:40.64:0.00:1.00:1.00:0.00:60:45.1:0:0:22:129:19:NM_001077197.1(PDE11A) c.1737+160C>T,NM_001077197.1(PDE11A) c.1737+160C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 2 178540247 . C . . NT END=178545553;NT GT ./. 2 178540293 rs3770016 A G 180 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.2951,G/0.7049;PC=0.998;Gene=PDE11A/NM_001077196.1/0;CC=c.1092-47T>C;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2424-47T>C;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1674-47T>C;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1350-47T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:23:0:0:48:1572:180.09:60.67:119.42:1.00:1.00:1.00:60:38.0:0:0:80:68:25:NM_001077197.1(PDE11A) c.1674-47T>C,NM_001077197.1(PDE11A) c.1674-47T>C:0.73,0.73:0.693449,0.693449 2 178545403 rs2886423 T C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1571,C/0.8429;Gene=PDE11A/NM_001077196.1/0;CC=c.1091+151A>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2423+151A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1673+151A>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1349+151A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:200:22.86:22.86:0.00:1.00:1.00:0.00:60:33.3:0:0:56:93:22:NM_001077197.1(PDE11A) c.1673+151A>G,NM_001077197.1(PDE11A) c.1673+151A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 178545632 . C . . NT END=178562059;NT GT ./. 2 178545660 rs374356377 G GA 7 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=3;Gene=PDE11A/NM_001077196.1/0;CC=c.1014-30dupT;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2346-30dupT;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1596-30dupT;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1272-30dupT;VC=Intron;DM=PDE11A/GAF;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,G,GA:31:21:4:0:1,27,3:8,888,131:-0.20,0.00,7.20:-0.17,0.00,2.31:-0.03,0.00,4.88:0.00,0.00,0.41:0.00,0.00,0.77:0.00,0.00,0.81:60,60,60:157.0,26.9,18.7:0,0,1:0,0,0:94,93,79:57,58,55:0,19,5:-,NM_001077197.1(PDE11A) c.1596-30_1596-29insT:-,NOT_FOUND:-,NOT_FOUND 2 178545713 rs4538242 C T 88 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=2900;PC=1.000;Gene=PDE11A/NM_001077196.1/0;CC=c.1014-82G>A;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2346-82G>A;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1596-82G>A;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1272-82G>A;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:9:0:0:24:769:88.30:18.58:69.72:1.00:1.00:1.00:60:41.9:0:0:112:38:29:NM_001077197.1(PDE11A) c.1596-82G>A,NM_001077197.1(PDE11A) c.1596-82G>A:1,1:NOT_FOUND,NOT_FOUND 2 178561947 rs2886424 G C 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2216,C/0.7784;PC=0.041;Gene=PDE11A/NM_001077196.1/0;CC=c.1013+113C>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2345+113C>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1595+113C>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1271+113C>G;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:427:48.90:48.90:0.00:1.00:1.00:0.00:60:39.5:0:0:50:101:14:NM_001077197.1(PDE11A) c.1595+113C>G,NM_001077197.1(PDE11A) c.1595+113C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 178562161 . C . . NT END=178565848;NT GT ./. 2 178565775 rs62182973 A G 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.978,G/0.02196;PC=0.052;Gene=PDE11A/NM_001077196.1/0;CC=c.912+74T>C;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2244+74T>C;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1494+74T>C;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1170+74T>C;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:A,G:14:13:0:0:9,5:306,156:0.00,14.02:0.00,14.31:0.00,-0.29:0.00,0.90:0.00,0.99:0.00,0.66:60,60:26.8,68.8:0,0:0,0:52,36:99,115:27,23:-,NM_001077197.1(PDE11A) c.1494+74T>C:-,0.03:-,NOT_FOUND 2 178565815 rs10201180 T C 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.2382,C/0.7618;Gene=PDE11A/NM_001077196.1/0;CC=c.912+34A>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.2244+34A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1494+34A>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.1170+34A>G;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:18:0:0:19:554:64.29:54.13:10.15:1.00:1.00:1.00:60:39.2:0:0:75:76:48:NM_001077197.1(PDE11A) c.1494+34A>G,NM_001077197.1(PDE11A) c.1494+34A>G:0.79,0.79:0.761725,0.761725 2 178565940 . C . . NT END=178576496;NT GT ./. 2 178576607 . C . . NT END=178592385;NT GT ./. 2 178592494 . C . . NT END=178592753;NT GT ./. 2 178592901 . C . . NT END=178634050;NT GT ./. 2 178602160 rs7607438 T C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3333,C/0.6667;Gene=PDE11A/NM_001077196.1/0;CC=c.457-9260A>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1789-9260A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.1039-9260A>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.715-9260A>G;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:2:0:0:6:213:24.16:5.97:18.20:1.00:1.00:1.00:58:75.5:0:0:78:45:34:NM_001077197.1(PDE11A) c.1039-9260A>G,NM_001077197.1(PDE11A) c.1039-9260A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 178634102 . C . . NT END=178681555;NT GT ./. 2 178681294 rs6716496 T C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7147,C/0.2853;PC=0.025;Gene=PDE11A/NM_001077196.1/0;CC=c.405+262A>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1737+262A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.987+262A>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.663+262A>G;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:6:6:0:0:4,2:102,71:10.39,0.00:10.39,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:35.5,0.0:0,0:0,0:72,53:78,97:41,29:NM_001077197.1(PDE11A) c.987+262A>G,-:0.28,-:NOT_FOUND,- 2 178681447 rs6433697 C A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5817,A/0.4183;PC=0.001;Gene=PDE11A/NM_001077196.1/0;CC=c.405+109G>T;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1737+109G>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.987+109G>T;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.663+109G>T;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,C:14:14:0:0:5,9:148,265:13.22,0.00:13.22,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:55.2,4.3:0,0:0,0:46,77:105,73:21,16:NM_001077197.1(PDE11A) c.987+109G>T,-:0.41,-:NOT_FOUND,- 2 178681534 rs6433698 C T 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5819,T/0.4181;Gene=PDE11A/NM_001077196.1/0;CC=c.405+22G>A;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1737+22G>A;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.987+22G>A;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.663+22G>A;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:20:0:0:15,12:503,422:0.00,39.87:0.00,21.76:0.00,18.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,47.3:0,0:0,0:29,73:122,78:13,23:-,NM_001077197.1(PDE11A) c.987+22G>A:-,0.41:-,0.424804 2 178681649 . C . . NT END=178682584;NT GT ./. 2 178681716 rs1438059 G C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5793,C/0.4207;PC=0.882;Gene=PDE11A/NM_001077196.1/0;CC=c.313-68C>G;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1645-68C>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.895-68C>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.571-68C>G;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:5:0:0:9,9:273,279:26.16,0.00:4.91,0.00:21.25,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:30.3,11.7:0,0:0,0:81,135:70,16:46,15:NM_001077197.1(PDE11A) c.895-68C>G,-:0.43,-:NOT_FOUND,- 2 178682558 rs3841879 A ATATAAAC 8 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5825,ATATAAAC/0.4175;NP=8;Gene=PDE11A/NM_001077196.1/0;CC=c.312+26_312+27insGTTTATA;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1644+26_1644+27insGTTTATA;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.894+26_894+27insGTTTATA;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.570+26_570+27insGTTTATA;VC=Intron;DM=PDE11A/GAF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,ATATAAAC:9:9:3:0:6,3:175,86:0.00,7.55:0.00,7.72:0.00,-0.18:0.00,0.96:0.00,0.96:0.00,0.63:60,60:4.0,33.7:0,0:0,0:48,65:102,86:12,19:-,NM_001077197.1(PDE11A) c.894+26_894+27insGTTTATA:-,NOT_FOUND:-,0.399408 2 178682603 rs6720891 T C 12 sb VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5819,C/0.4181;PC=0.518;Gene=PDE11A/NM_001077196.1/0;CC=c.294A>G;ProtCh=p.A98=;VC=Silent;Gene=PDE11A/NM_016953.3/0;CC=c.1626A>G;ProtCh=p.A542=;VC=Silent;Gene=PDE11A/NM_001077197.1/1;CC=c.876A>G;ProtCh=p.A292=;VC=Silent;Gene=PDE11A/NM_001077358.1/0;CC=c.552A>G;ProtCh=p.A184=;VC=Silent;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:14:11:0:0:5,9:137,291:12.12,0.00:13.17,0.00:-1.05,0.00:0.90,0.00:0.98,0.00:0.95,0.00:60,60:58.0,4.9:0,0:0,0:48,25:99,80:29,15:NM_001077197.1(PDE11A) c.876A>G (p.(=)),-:0.41,-:0.423189,- 2 178682653 . C . . NT END=178684946;NT GT ./. 2 178682655 rs3821010 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5819,G/0.4181;PC=1.000;Gene=PDE11A/NM_001077196.1/0;CC=c.245-3T>C;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1577-3T>C;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.827-3T>C;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.503-3T>C;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,C,G:15:10:0:0:9,1,5:298,8,169:0.00,0.03,15.32:0.00,0.21,11.07:0.00,-0.18,4.24:0.00,0.00,0.89:0.00,0.00,0.97:0.00,0.00,0.97:60,60,60:8.6,67.0,52.0:0,0,0:0,0,0:71,150,71:74,1,79:6,0,24:-,NM_001077197.1(PDE11A) c.827-3T>C:-,0.41:-,0.424639 2 178684820 rs41440047 G A 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5823,A/0.4177;PC=0.001;Gene=PDE11A/NM_001077196.1/0;CC=c.244+127C>T;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1576+127C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.826+127C>T;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.502+127C>T;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:4:4:0:0:2,2:66,57:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:70,60:120.0,10.5:0,0:0,0:39,72:112,78:28,53:NM_001077197.1(PDE11A) c.826+127C>T,-:0.41,-:NOT_FOUND,- 2 178684921 rs13386827 G A 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.7147,A/0.2853;PC=0.008;Gene=PDE11A/NM_001077196.1/0;CC=c.244+26C>T;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1576+26C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.826+26C>T;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.502+26C>T;VC=Intron;DM=PDE11A/GAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:14:0:0:8,8:227,260:21.68,0.00:16.13,0.00:5.55,0.00:1.00,0.00:1.00,0.00:0.51,0.00:70,60:42.4,1.5:0,0:0,0:30,32:120,118:14,20:NM_001077197.1(PDE11A) c.826+26C>T,-:0.27,-:0.30311,- 2 178685023 . C . . NT END=178704977;NT GT ./. 2 178705111 . C . . NT END=178740585;NT GT ./. 2 178705254 rs72948809 G A 57 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9405,A/0.0595,C/.;Gene=PDE11A/NM_001077196.1/0;CC=c.36-144C>T;VC=Intron;Gene=PDE11A/NM_016953.3/0;CC=c.1368-144C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.618-144C>T;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.294-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:A,G:24:0:0:0:18,6:545,201:57.17,0.00:0.00,0.00:57.17,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.5,3.3:0,0:0,0:91,100:59,51:34,17:NM_001077197.1(PDE11A) c.618-144C>T,-:0.06,-:NOT_FOUND,- 2 178740651 . C . . NT END=178753345;NT GT ./. 2 178753467 . a . . NT END=178762784;NT GT ./. 2 178762926 . C . . NT END=178769824;NT GT ./. 2 178769915 . C . . NT END=178787434;NT GT ./. 2 178769992 rs2695096 T C 76 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.02875,C/0.9712;Gene=PDE11A/NM_016953.3/0;CC=c.1072-78A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.322-78A>G;VC=Intron;Gene=PDE11A/NM_001077358.1/0;CC=c.-3-78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:6:0:0:20:662:75.74:14.36:61.38:1.00:1.00:1.00:60:43.2:0:0:97:53:43:NM_001077197.1(PDE11A) c.322-78A>G,NM_001077197.1(PDE11A) c.322-78A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 178787565 . t . . NT END=178879028;NT GT ./. 2 178810444 rs375245598 G A 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=296;Gene=PDE11A/NM_016953.3/0;CC=c.1072-40530C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.322-40530C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:5:3:0:0:2,3:70,76:6.50,0.00:3.36,0.00:3.14,0.00:0.46,0.00:0.80,0.00:0.87,0.00:39,42:68.0,40.3:0,0:0,0:85,50:65,91:49,10:NM_001077197.1(PDE11A) c.322-40530C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 178862460 rs11677176 A C 47 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7929,C/0.2071;PC=0.997;Gene=PDE11A/NM_016953.3/0;CC=c.1071+16569T>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.321+16569T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:27:17:0:0:12,15:374,483:0.00,47.37:0.00,19.22:0.00,28.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,40.3:0,0:0,0:95,67:51,72:29,43:-,NM_001077197.1(PDE11A) c.321+16569T>G:-,0.21:-,NOT_FOUND 2 178862673 rs1836672 C T 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.3934,T/0.6066;PC=0.997;Gene=PDE11A/NM_016953.3/0;CC=c.1071+16356G>A;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.321+16356G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:14:0:0:10,14:331,441:0.00,43.70:0.00,24.56:0.00,19.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,42.8:0,0:0,0:98,62:52,88:24,34:-,NM_001077197.1(PDE11A) c.321+16356G>A:-,0.63:-,NOT_FOUND 2 178863260 rs2117738 G A 72 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4481,A/0.5519;PC=0.132;Gene=PDE11A/NM_016953.3/0;CC=c.1071+15769C>T;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.321+15769C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:18:0:0:21,7:690,229:72.11,0.00:50.50,0.00:21.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,13.4:0,0:0,0:74,112:77,39:40,25:NM_001077197.1(PDE11A) c.321+15769C>T,-:0.57,-:NOT_FOUND,- 2 178878845 rs11695452 A T 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7774,T/0.2226;PC=0.006;Gene=PDE11A/NM_016953.3/0;CC=c.1071+184T>A;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.321+184T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,T:13:13:0:0:8,5:246,139:0.00,12.50:0.00,12.50:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:2.8,54.2:0,0:0,0:48,32:103,119:24,19:-,NM_001077197.1(PDE11A) c.321+184T>A:-,0.22:-,NOT_FOUND 2 178879188 . C . . NT END=178936252;NT GT ./. 2 178879470 rs9679090 T C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3946,C/0.6054;Gene=PDE11A/NM_016953.3/0;CC=c.913-283A>G;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.163-283A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:8:C,T:4:0:0:0:3,1:63,13:6.63,0.00:0.00,0.00:6.63,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:51.7,37.0:0,0:0,0:115,86:36,39:28,0:NM_001077197.1(PDE11A) c.163-283A>G,-:0.63,-:NOT_FOUND,- 2 178885621 rs113112289 TAA T 12 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TAA/0.7813,T/0.2187;NP=311;PC=0.087;Gene=PDE11A/NM_016953.3/0;CC=c.913-6436_913-6435delTT;VC=Intron;Gene=PDE11A/NM_001077197.1/1;CC=c.163-6436_163-6435delTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:TAA,T:6:5:0:4:2,4:64,116:0.00,11.85:0.00,9.31:0.00,2.54:0.00,0.93:0.00,0.99:0.00,0.99:60,60:25.5,11.2:0,0:0,0:48,36:74,67:17,23:-,NM_001077197.1(PDE11A) c.163-6436_163-6435delTT:-,0.21:-,NOT_FOUND 2 178936373 rs1435573 T G 217 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.1126,G/0.8874;PC=1.000;Gene=PDE11A/NM_016953.3/0;CC=c.792A>C;ProtCh=p.T264=;VC=Silent;Gene=PDE11A/NM_001077197.1/1;CC=c.162+32656A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:C,G:61:43:0:0:1,60:15,1889:0.39,217.01:0.00,125.42:0.39,91.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,46.2:0,0:0,0:142,75:9,72:0,26:NM_001077197.1(PDE11A) c.162+32656A>C,NM_001077197.1(PDE11A) c.162+32656A>C:0.89,0.89:0.833846,0.833846 2 178936614 rs6433711 C T 361 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.009784,G/.,T/0.9902;NP=3481;PC=1.000;Gene=PDE11A/NM_016953.3/0;CC=c.551G>A;ProtCh=p.R184Q;VC=Missense;Gene=PDE11A/NM_001077197.1/1;CC=c.162+32415G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:95:74:0:0:95:3160:361.26:223.31:137.95:1.00:1.00:1.00:60:43.2:0:0:61:90:33:NM_001077197.1(PDE11A) c.162+32415G>A,NM_001077197.1(PDE11A) c.162+32415G>A:0.99,0.99:0.992619,0.992619 2 178937774 . T . . NT END=178969028;NT GT ./. 2 178969191 . C . . NT END=178977273;NT GT ./. 2 178977574 . G . . NT END=178980988;NT GT ./. 2 178977620 rs2276622 C G 258 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.6589,G/0.3411;Gene=RBM45/NM_152945.3/1;CC=c.300+47C>G;VC=Intron;DM=RBM45/RRM_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:26:0:0:69:2255:258.33:63.90:194.43:1.00:1.00:1.00:60:41.0:0:0:106:42:25:NM_152945.2(RBM45) c.300+47C>G,NM_152945.2(RBM45) c.300+47C>G:0.36,0.36:0.287399,0.287399 2 178980855 . CT C 7 rn VT=DEL;SST=Single;DP=35;NP=29;Gene=RBM45/NM_152945.3/1;CC=c.301-124delT;VC=Intron;DM=RBM45/RRM_5;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:CT,I,C:35:35:1:3:31,1,3:1008,33,95:0.00,1.85,6.53:0.00,1.88,5.27:0.00,-0.03,1.26:0.00,0.00,0.40:0.00,0.00,0.40:0.00,0.00,0.40:60,60,60:38.2,0.0,9.3:0,0,0:0,0,0:78,31,22:72,120,129:47,0,7:-,NM_152945.2(RBM45) c.301-133delT:-,NOT_FOUND:-,NOT_FOUND 2 178981112 . G . . NT END=178982781;NT GT ./. 2 178982909 . G . . NT END=178985013;NT GT ./. 2 178984769 rs1025446 A G 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5539,G/0.4461;Gene=RBM45/NM_152945.3/1;CC=c.551-245A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:8:0:0:8:247:28.47:28.47:0.00:1.00:1.00:0.00:60:52.1:0:0:30:119:11:NM_152945.2(RBM45) c.551-245A>G,NM_152945.2(RBM45) c.551-245A>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 178985137 . G . . NT END=178985900;NT GT ./. 2 178986087 . G . . NT END=178988248;NT GT ./. 2 178986130 rs55710214 TACAC T 39 idl,rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;PC=0.004;Gene=RBM45/NM_152945.3/1;CC=c.853+82_853+85delCACA;VC=Intron;DM=RBM45/RRM_1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TACAC,T:27:14:0:15:14,13:436,476:0.00,39.16:0.00,4.48:0.00,34.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.1,20.1:0,2:0,0:130,76:21,75:5,28:-,NM_152945.2(RBM45) c.853+45_853+48delACAC:-,NOT_FOUND:-,NOT_FOUND 2 178986132 rs11895951 C T 42 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=99;Gene=RBM45/NM_152945.3/1;CC=c.853+46C>T;VC=Intron;DM=RBM45/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:8:0:18:12:367:42.41:27.33:15.09:1.00:1.00:1.00:60:49.6:0:0:130:21:4:NM_152945.2(RBM45) c.853+46C>T,NM_152945.2(RBM45) c.853+46C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 178986136 rs200763421 C T 35 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=RBM45/NM_152945.3/1;CC=c.853+50C>T;VC=Intron;DM=RBM45/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:9:0:3:13,12:414,365:0.00,34.72:0.00,-2.26:0.00,36.98:0.00,1.00:0.00,0.99:0.00,1.00:60,60:45.8,20.7:1,12:0,0:132,78:19,73:6,24:-,NM_152945.2(RBM45) c.853+50C>T:-,NOT_FOUND:-,NOT_FOUND 2 178988379 . G . . NT END=178988554;NT GT ./. 2 178988640 . G . . NT END=178988853;NT GT ./. 2 178989018 . G . . NT END=178990710;NT GT ./. 2 178990904 . T . . NT END=179170911;NT GT ./. 2 179171014 . G . . NT END=179184970;NT GT ./. 2 179185051 rs12478760 A G 57 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.7931,G/0.2069;PC=0.001;Gene=OSBPL6/NM_001201480.1/1;CC=c.103-3853A>G;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.103-3853A>G;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.103-3853A>G;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.103-3853A>G;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.-40A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:30:0:0:24,19:779,606:0.00,56.85:0.00,30.92:0.00,25.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,32.9:0,0:0,0:91,69:57,71:27,39:-,NM_001201480.1(OSBPL6) c.103-3853A>G:-,0.22:-,0.189989 2 179185130 . G . . NT END=179188903;NT GT ./. 2 179185282 rs78476484 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8858,A/0.1142;Gene=OSBPL6/NM_001201480.1/1;CC=c.103-3622G>A;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.103-3622G>A;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.103-3622G>A;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.103-3622G>A;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.39+153G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,G:9:0:0:0:5,4:168,132:16.50,0.00:0.00,0.00:16.50,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:40.4,14.2:0,0:0,0:104,92:47,58:32,5:NM_001201480.1(OSBPL6) c.103-3622G>A,-:0.11,-:NOT_FOUND,- 2 179188997 . G . . NT END=179192982;NT GT ./. 2 179189012 rs1434083 C T 68 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.8163,T/0.1837;Gene=OSBPL6/NM_001201480.1/1;CC=c.195+16C>T;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.195+16C>T;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.195+16C>T;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.195+16C>T;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.132+16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:25:0:0:19,21:590,699:0.00,67.90:0.00,22.41:0.00,45.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,36.4:0,0:0,0:102,85:39,52:24,31:-,NM_001201480.1(OSBPL6) c.195+16C>T:-,0.2:-,0.159325 2 179192684 rs76724983 A C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6887,C/0.3113;PC=0.770;Gene=OSBPL6/NM_001201480.1/1;CC=c.196-299A>C;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.196-299A>C;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.196-299A>C;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.196-299A>C;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.133-299A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:176:19.98:19.98:0.00:1.00:1.00:0.00:60:36.6:0:0:24:126:8:NM_001201480.1(OSBPL6) c.196-299A>C,NM_001201480.1(OSBPL6) c.196-299A>C:0.29,0.29:NOT_FOUND,NOT_FOUND 2 179193106 . G . . NT END=179196278;NT GT ./. 2 179196233 rs12471790 G A 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.8181,A/0.1819;Gene=OSBPL6/NM_001201480.1/1;CC=c.319-46G>A;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.319-46G>A;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.319-46G>A;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.319-46G>A;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.256-46G>A;VC=Intron;DM=OSBPL6/PH_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:42:0:0:22,25:702,878:66.53,0.00:38.17,0.00:28.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,4.2:0,0:0,0:32,37:115,104:16,24:NM_001201480.1(OSBPL6) c.319-46G>A,-:0.2,-:0.160695,- 2 179196333 . G . . NT END=179197367;NT GT ./. 2 179197251 rs12464806 A G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.891,G/0.109;Gene=OSBPL6/NM_001201480.1/1;CC=c.373-117A>G;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.373-117A>G;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.373-117A>G;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.373-117A>G;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.310-117A>G;VC=Intron;DM=OSBPL6/PH_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,G:10:10:0:0:2,8:53,277:0.00,29.35:0.00,29.35:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,41.6:0,0:0,0:80,36:70,113:50,24:-,NM_001201480.1(OSBPL6) c.373-117A>G:-,0.11:-,NOT_FOUND 2 179197482 . G . . NT END=179197597;NT GT ./. 2 179197769 . G . . NT END=179201027;NT GT ./. 2 179197878 rs12473890 G A 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.891,A/0.109;PC=0.008;Gene=OSBPL6/NM_001201480.1/1;CC=c.657+110G>A;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.657+110G>A;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.657+110G>A;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.657+110G>A;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.594+110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:1:0:0:10,12:303,387:28.46,0.00:-0.13,0.00:28.59,0.00:1.00,0.00:0.64,0.00:1.00,0.00:60,60:36.6,5.2:0,0:0,0:99,113:50,36:34,25:NM_001201480.1(OSBPL6) c.657+110G>A,-:0.11,-:NOT_FOUND,- 2 179200947 rs6760059 C T 99 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.8393,T/0.1607;Gene=OSBPL6/NM_001201480.1/1;CC=c.658-81C>T;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.658-81C>T;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.658-81C>T;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.658-81C>T;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.595-81C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:51:0:0:21,31:702,990:0.00,98.52:0.00,80.55:0.00,17.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.3,48.9:0,0:0,0:52,42:97,101:28,30:-,NM_001201480.1(OSBPL6) c.658-81C>T:-,0.15:-,NOT_FOUND 2 179201161 . G . . NT END=179203717;NT GT ./. 2 179203797 rs1434087 G A 45 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.07907,A/0.9209;PC=1.000;Gene=OSBPL6/NM_001201480.1/1;CC=c.870G>A;ProtCh=p.S290=;VC=Silent;Gene=OSBPL6/NM_001201481.1/0;CC=c.870G>A;ProtCh=p.S290=;VC=Silent;Gene=OSBPL6/NM_001201482.1/0;CC=c.870G>A;ProtCh=p.S290=;VC=Silent;Gene=OSBPL6/NM_032523.3/0;CC=c.870G>A;ProtCh=p.S290=;VC=Silent;Gene=OSBPL6/NM_145739.2/0;CC=c.807G>A;ProtCh=p.S269=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:30:22:0:0:14,1,15:469,10,477:44.85,0.05,0.00:20.62,0.15,0.00:24.23,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.4,189.0,3.1:0,0,0:0,0,0:92,104,75:58,26,69:30,0,17:NM_001201480.1(OSBPL6) c.870G>A (p.(=)),-:0.92,-:0.905044,- 2 179203822 . G . . NT END=179204398;NT GT ./. 2 179204492 . G . . NT END=179209012;NT GT ./. 2 179204568 rs9646740 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8754,T/0.1246;Gene=OSBPL6/NM_001201480.1/1;CC=c.987+77C>T;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.894+747C>T;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.987+77C>T;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.987+77C>T;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.924+77C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:10:1:0:0:5,5:152,170:0.00,16.38:0.00,1.79:0.00,14.59:0.00,0.95:0.00,0.67:0.00,0.95:60,60:5.0,37.8:0,0:0,0:106,118:35,33:18,11:-,NM_001201480.1(OSBPL6) c.987+77C>T:-,0.12:-,NOT_FOUND 2 179208974 rs12464380 G A 58 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=OSBPL6/NM_001201480.1/1;CC=c.988-39G>A;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.895-4977G>A;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.987+4483G>A;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.987+4483G>A;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.925-39G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:33:27:0:0:18,1,14:593,11,431:58.39,0.12,0.00:39.25,0.18,0.00:19.14,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.4,49.0,7.2:0,0,0:0,0,0:73,80,38:77,71,110:27,0,20:NM_001201480.1(OSBPL6) c.988-39G>A,-:0.12,-:0.167,- 2 179209088 . G . . NT END=179213950;NT GT ./. 2 179213792 rs1812550 T C 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6667,C/0.3333;Gene=OSBPL6/NM_001201480.1/1;CC=c.1063-159T>C;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.895-159T>C;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.988-159T>C;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.988-159T>C;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.1000-159T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:C,T:11:11:0:0:6,5:183,168:17.87,0.00:17.87,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:57.8,41.0:0,0:0,0:48,25:102,126:36,12:NM_001201480.1(OSBPL6) c.1063-159T>C,-:0.32,-:NOT_FOUND,- 2 179213872 rs964165 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7332,T/0.2668;Gene=OSBPL6/NM_001201480.1/1;CC=c.1063-79C>T;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.895-79C>T;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.988-79C>T;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.988-79C>T;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.1000-79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:23:0:0:13,11:422,314:0.00,29.42:0.00,25.78:0.00,3.64:0.00,1.00:0.00,1.00:0.00,0.64:60,60:7.6,48.7:0,0:0,0:26,44:124,105:23,33:-,NM_001201480.1(OSBPL6) c.1063-79C>T:-,0.26:-,NOT_FOUND 2 179214117 . G . . NT END=179226408;NT GT ./. 2 179226290 rs1560871 T C 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.1763,C/0.8237;Gene=OSBPL6/NM_001201480.1/1;CC=c.1229-119T>C;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.1061-119T>C;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.1154-119T>C;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.1154-119T>C;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.1166-119T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:12,12:374,411:35.90,0.00:34.16,0.00:1.74,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:44.2,12.6:0,0:0,0:47,51:103,92:43,36:NM_001201480.1(OSBPL6) c.1229-119T>C,-:0.82,-:NOT_FOUND,- 2 179226543 . G . . NT END=179236852;NT GT ./. 2 179236961 . G . . NT END=179238616;NT GT ./. 2 179238507 rs7595571 T C 47 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.1759,C/0.8241;PC=0.004;Gene=OSBPL6/NM_001201480.1/1;CC=c.1471-110T>C;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.1303-110T>C;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.1288-110T>C;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.1396-110T>C;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.1408-110T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:30:0:0:16,15:488,490:47.08,0.00:47.71,0.00:-0.63,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:36.9,8.8:0,0:0,0:63,46:88,105:46,19:NM_001201480.1(OSBPL6) c.1471-110T>C,-:0.82,-:NOT_FOUND,- 2 179238755 . G . . NT END=179247146;NT GT ./. 2 179238866 rs36060642 A G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.8674,G/0.1326;Gene=OSBPL6/NM_001201480.1/1;CC=c.1608+112A>G;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.1440+112A>G;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.1425+112A>G;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.1533+112A>G;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.1545+112A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:10,7:319,214:0.00,19.73:0.00,0.00:0.00,19.73:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.3,37.0:0,0:0,0:79,136:71,13:27,13:-,NM_001201480.1(OSBPL6) c.1608+112A>G:-,0.15:-,NOT_FOUND 2 179247507 . C . . NT END=179247750;NT GT ./. 2 179248005 . G . . NT END=179248765;NT GT ./. 2 179248904 . G . . NT END=179250184;NT GT ./. 2 179250249 . G . . NT END=179251787;NT GT ./. 2 179250397 rs2276617 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4046,G/0.5954;PC=0.002;Gene=OSBPL6/NM_001201480.1/1;CC=c.2152+149A>G;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.1984+149A>G;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.1969+149A>G;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.2077+149A>G;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.2089+149A>G;VC=Intron;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;DM=OSBPL6/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,G:6:0:0:0:3,3:93,102:0.00,9.83:0.00,0.00:0.00,9.83:0.00,0.73:0.00,0.00:0.00,0.73:60,60:9.0,47.3:0,0:0,0:131,139:20,11:17,7:-,NM_001201480.1(OSBPL6) c.2152+149A>G:-,0.57:-,NOT_FOUND 2 179251867 . G . . NT END=179253735;NT GT ./. 2 179253881 . G . . NT END=179255799;NT GT ./. 2 179255945 . G . . NT END=179257138;NT GT ./. 2 179257070 . G C 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;NP=2;Gene=OSBPL6/NM_001201480.1/1;CC=c.2522-69G>C;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.2354-69G>C;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.2339-69G>C;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.2447-69G>C;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.2459-69G>C;VC=Intron;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;DM=OSBPL6/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:24:0:0:11,13:365,357:34.59,0.00:29.80,0.00:4.79,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:53.0,7.8:0,0:0,0:52,79:99,72:25,45:NM_001201480.1(OSBPL6) c.2522-69G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 179257266 . G . . NT END=179259039;NT GT ./. 2 179258923 rs919177 C T 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.4211,T/0.5789;Gene=OSBPL6/NM_001201480.1/1;CC=c.2649-117C>T;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.2481-117C>T;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.2466-117C>T;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.2574-117C>T;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.2586-117C>T;VC=Intron;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;DM=OSBPL6/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:35:0:0:16,19:501,644:0.00,62.96:0.00,57.41:0.00,5.55:0.00,1.00:0.00,1.00:0.00,0.96:60,60:14.9,44.3:0,0:0,0:44,71:106,77:33,31:-,NM_001201480.1(OSBPL6) c.2649-117C>T:-,0.54:-,NOT_FOUND 2 179259163 . G . . NT END=179260177;NT GT ./. 2 179259955 rs7605289 G A 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5302,A/0.4698;Gene=OSBPL6/NM_001201480.1/1;CC=c.2772-223G>A;VC=Intron;Gene=OSBPL6/NM_001201481.1/0;CC=c.2604-223G>A;VC=Intron;Gene=OSBPL6/NM_001201482.1/0;CC=c.2589-223G>A;VC=Intron;Gene=OSBPL6/NM_032523.3/0;CC=c.2697-223G>A;VC=Intron;Gene=OSBPL6/NM_145739.2/0;CC=c.2709-223G>A;VC=Intron;Gene=MIR548N/NR_031666.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:9:9:0:0:6,3:200,98:20.37,0.00:20.61,0.00:-0.24,0.00:0.99,0.00:0.99,0.00:0.78,0.00:60,60:35.2,0.0:0,0:0,0:80,95:69,56:46,6:NM_001201480.1(OSBPL6) c.2772-223G>A,-:0.44,-:NOT_FOUND,- 2 179260287 . A . . NT END=179296823;NT GT ./. 2 179296982 . C . . NT END=179300871;NT GT ./. 2 179301047 . C . . NT END=179306336;NT GT ./. 2 179306432 . C . . NT END=179307993;NT GT ./. 2 179308112 . C . . NT END=179309148;NT GT ./. 2 179309228 . C . . NT END=179312182;NT GT ./. 2 179312314 . C . . NT END=179314968;NT GT ./. 2 179315485 . g . . NT END=179315692;NT GT ./. 2 179315758 . G . . NT END=179316484;NT GT ./. 2 179316598 . G . . NT END=179317025;NT GT ./. 2 179317019 rs34642323 CA C 68 idl,rn VT=DEL;SST=Single;DP=123;DB;DBA=NA;PAF=NA;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=DFNB59/NM_001042702.3/1;CC=c.-23+545delA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:108:111:16:43:2,69,12,25:22,2183,526,1135:-0.11,0.00,29.93,68.44:-0.44,0.00,30.21,56.89:0.33,0.00,-0.28,11.56:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.97:60,60,60,60:36.0,27.2,51.9,39.4:0,0,4,11:0,0,0,0:47,88,46,51:84,57,103,99:41,44,27,31:-,NM_001042702.3(DFNB59) c.-23+524delA:-,NOT_FOUND:-,NOT_FOUND 2 179317297 . G . . NT END=179318114;NT GT ./. 2 179318348 . G . . NT END=179319058;NT GT ./. 2 179319255 . G . . NT END=179320736;NT GT ./. 2 179320879 . G . . NT END=179323236;NT GT ./. 2 179323355 . G . . NT END=179325074;NT GT ./. 2 179325174 . G . . NT END=179325708;NT GT ./. 2 179326002 . A . . NT END=179330629;NT GT ./. 2 179330659 . C . . NT END=179334378;NT GT ./. 2 179334513 . C . . NT END=179337755;NT GT ./. 2 179337870 . C . . NT END=179341788;NT GT ./. 2 179341941 . C . . NT END=179343005;NT GT ./. 2 179343518 . C . . NT END=179345596;NT GT ./. 2 179345637 . G . . NT END=179350367;NT GT ./. 2 179350485 . G . . NT END=179355385;NT GT ./. 2 179355542 . G . . NT END=179358579;NT GT ./. 2 179358717 . G . . NT END=179360222;NT GT ./. 2 179360388 . G . . NT END=179363937;NT GT ./. 2 179363909 . A AT 10 sb,rn VT=INS;SST=Single;DP=31;NP=7;PC=0.001;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=PLEKHA3/NM_019091.3/1;CC=c.616-14dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,T,AT,D:30:26:5:1:24,1,4,1:747,34,166,26:0.00,2.05,10.22,1.25:0.00,0.97,1.93,0.57:0.00,1.08,8.29,0.68:0.00,0.00,0.64,0.00:0.00,0.00,0.92,0.00:0.00,0.00,0.86,0.00:60,60,60,60:52.2,44.0,20.5,58.0:0,0,1,0:0,0,0,0:51,109,72,55:89,32,79,56:33,0,14,0:-,NM_019091.3(PLEKHA3) c.616-29_616-28insT:-,NOT_FOUND:-,NOT_FOUND 2 179363982 . G . . NT END=179365787;NT GT ./. 2 179365904 . G . . NT END=179368486;NT GT ./. 2 179368615 . A . . NT END=179391738;NT GT ./. 2 179372777 rs71023446 GGT G 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.018;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:GGT,G:6:5:0:4:3,3:97,98:0.00,9.42:0.00,8.29:0.00,1.14:0.00,0.73:0.00,0.96:0.00,0.51:60,60:3.7,0.0:0,0:0,0:112,72:38,78:1,22:-,chr2 g.179372778_179372779delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 179392035 . C . . NT END=179392172;NT GT ./. 2 179392476 . C . . NT END=179393000;NT GT ./. 2 179393155 . C . . NT END=179393254;NT GT ./. 2 179393947 . C . . NT END=179394686;NT GT ./. 2 179394844 . C . . NT END=179394967;NT GT ./. 2 179400577 . C . . NT END=179400708;NT GT ./. 2 179400585 . GA G 13 idl,rn VT=DEL;SST=Single;DP=54;NP=3;PC=0.496;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038272.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038271.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.95843-10delT;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.100766-10delT;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.74147-10delT;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.73571-10delT;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.93062-10delT;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.73946-10delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,GA,T,I,G:50:26:6:10:5,33,1,5,6:60,985,10,171,262:2.26,0.00,-0.10,9.75,12.57:-0.70,0.00,-0.14,3.47,-0.79:2.96,0.00,0.04,6.28,13.36:0.00,0.00,0.00,0.00,0.84:0.00,0.00,0.00,0.00,0.88:0.00,0.00,0.00,0.00,0.96:60,60,60,70,60:62.6,19.0,93.0,58.4,24.7:1,0,0,1,3:0,0,0,0,0:54,102,67,79,103:85,43,75,71,48:31,35,0,27,27:-,NM_001267550.1(TTN) c.100766-10delT:-,NOT_FOUND:-,NOT_FOUND 2 179401303 . C . . NT END=179401664;NT GT ./. 2 179401971 . C . . NT END=179402068;NT GT ./. 2 179402645 . C . . NT END=179403266;NT GT ./. 2 179403567 . C . . NT END=179403672;NT GT ./. 2 179403979 . C . . NT END=179404108;NT GT ./. 2 179404694 . C . . NT END=179404794;NT GT ./. 2 179405098 . C . . NT END=179406008;NT GT ./. 2 179406312 . C . . NT END=179406990;NT GT ./. 2 179407291 . C . . NT END=179407388;NT GT ./. 2 179407677 . C . . NT END=179407795;NT GT ./. 2 179407763 rs58609542 C CT 36 idl,rn VT=INS;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=2;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038272.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038271.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.91981+32dupA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.96904+32dupA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.70285+32dupA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.69709+32dupA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.89200+32dupA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.70084+32dupA;VC=Intron;DM=TTN/Pkinase;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,T,CT,D:86:44:18:15:60,1,15,10:1833,10,530,427:0.00,-0.18,35.71,22.44:0.00,-0.12,13.91,12.27:0.00,-0.06,21.80,10.17:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:36.0,59.0,39.7,29.1:0,0,3,4:0,0,0,0:116,41,55,79:30,109,95,59:26,0,42,35:-,NM_001267550.1(TTN) c.96904+32_96904+33insA:-,NOT_FOUND:-,NOT_FOUND 2 179408390 . C . . NT END=179408560;NT GT ./. 2 179408843 . C . . NT END=179408927;NT GT ./. 2 179409234 . C . . NT END=179410114;NT GT ./. 2 179410421 . C . . NT END=179410546;NT GT ./. 2 179410844 . C . . NT END=179410938;NT GT ./. 2 179411230 . C . . NT END=179411326;NT GT ./. 2 179411633 . C . . NT END=179411729;NT GT ./. 2 179412033 . C . . NT END=179412133;NT GT ./. 2 179414201 . C . . NT END=179414296;NT GT ./. 2 179414597 . C . . NT END=179414712;NT GT ./. 2 179415001 . C . . NT END=179415693;NT GT ./. 2 179415988 . C . . NT END=179416356;NT GT ./. 2 179418124 . C . . NT END=179418228;NT GT ./. 2 179418535 . C . . NT END=179418640;NT GT ./. 2 179418944 . C . . NT END=179419179;NT GT ./. 2 179419480 . C . . NT END=179419591;NT GT ./. 2 179419880 . C . . NT END=179421574;NT GT ./. 2 179421872 . C . . NT END=179421979;NT GT ./. 2 179422283 . C . . NT END=179422374;NT GT ./. 2 179422963 . C . . NT END=179423067;NT GT ./. 2 179423365 . C . . NT END=179424037;NT GT ./. 2 179431076 rs56307213 C G 174 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=126;DB;DBA=in-clinvar;PAF=C/0.9926,G/0.007388;PC=1.000;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038272.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038271.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.74860G>C;ProtCh=p.D24954H;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.79783G>C;ProtCh=p.D26595H;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.53164G>C;ProtCh=p.D17722H;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.52588G>C;ProtCh=p.D17530H;VC=Missense;Gene=TTN/NM_133378.4/0;CC=c.72079G>C;ProtCh=p.D24027H;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.52963G>C;ProtCh=p.D17655H;VC=Missense;DM=TTN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:126:82:0:0:1,67,58:7,2294,1835:-0.20,0.00,173.57:-0.08,0.00,91.57:-0.12,0.00,82.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:76.0,7.1,40.8:0,0,0:0,0,0:99,85,83:52,62,62:0,31,30:-,NM_001267550.1(TTN) c.79783G>C (p.Asp26595His):-,0.01:-,0.015037 2 179441144 . C . . NT END=179441255;NT GT ./. 2 179441559 . C . . NT END=179441649;NT GT ./. 2 179442238 . C . . NT END=179442328;NT GT ./. 2 179442292 rs148238009 TA T 14 rn VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=TA/0.9321,T/0.06789;NP=497;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038272.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038271.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.63901+36delT;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.68824+36delT;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.42205+36delT;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.41629+36delT;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.61120+36delT;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.42004+36delT;VC=Intron;DM=TTN/fn3;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,TA,T:77:50:0:6:2,69,6:63,2048,201:3.31,0.00,13.90:-0.47,0.00,6.77:3.77,0.00,7.12:0.00,0.00,0.79:0.00,0.00,0.93:0.00,0.00,0.87:60,60,60:31.5,14.0,3.0:0,0,0:0,0,0:3,59,57:147,80,93:3,30,10:-,NM_001267550.1(TTN) c.68824+36delT:-,NOT_FOUND:-,0.107914 2 179442626 . C . . NT END=179442714;NT GT ./. 2 179442913 . C . . NT END=179443337;NT GT ./. 2 179443443 . C . . NT END=179443532;NT GT ./. 2 179444121 . C . . NT END=179444287;NT GT ./. 2 179444576 . C . . NT END=179444665;NT GT ./. 2 179444768 rs4145333 C G 348 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=96;DB;DBA=in-clinvar;PAF=C/0.005391,G/0.9946;NP=3475;PC=0.285;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038272.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038271.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.62323G>C;ProtCh=p.A20775P;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.67246G>C;ProtCh=p.A22416P;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.40627G>C;ProtCh=p.A13543P;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.40051G>C;ProtCh=p.A13351P;VC=Missense;Gene=TTN/NM_133378.4/0;CC=c.59542G>C;ProtCh=p.A19848P;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.40426G>C;ProtCh=p.A13476P;VC=Missense;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:96:65:0:0:95,1:3028,12:347.54,0.16:173.80,0.16:173.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,12.0:0,0:0,0:74,141:71,9:42,0:NM_001267550.1(TTN) c.67246G>C (p.Ala22416Pro),NM_001267550.1(TTN) c.67246G>C (p.Ala22416Pro):0.99,0.99:0.995617,0.995617 2 179444957 . C . . NT END=179445048;NT GT ./. 2 179445337 . C . . NT END=179446225;NT GT ./. 2 179446532 . C . . NT END=179446632;NT GT ./. 2 179446936 . C . . NT END=179447022;NT GT ./. 2 179447320 . C . . NT END=179447666;NT GT ./. 2 179447955 . C . . NT END=179448333;NT GT ./. 2 179448634 . C . . NT END=179449002;NT GT ./. 2 179449306 . C . . NT END=179449395;NT GT ./. 2 179449696 . C . . NT END=179449798;NT GT ./. 2 179450075 . C . . NT END=179451231;NT GT ./. 2 179451535 . C . . NT END=179451844;NT GT ./. 2 179452145 . C . . NT END=179452242;NT GT ./. 2 179452528 . C . . NT END=179452625;NT GT ./. 2 179452947 . C . . NT END=179453264;NT GT ./. 2 179456232 . C . . NT END=179456325;NT GT ./. 2 179456620 . C . . NT END=179456704;NT GT ./. 2 179457005 . C . . NT END=179457105;NT GT ./. 2 179457388 . C . . NT END=179457501;NT GT ./. 2 179457811 . C . . NT END=179457899;NT GT ./. 2 179458203 . C . . NT END=179458294;NT GT ./. 2 179458595 . C . . NT END=179458687;NT GT ./. 2 179458970 . C . . NT END=179459070;NT GT ./. 2 179459374 . C . . NT END=179460233;NT GT ./. 2 179459659 rs62178962 C T 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9493,T/0.05072;PC=0.122;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038272.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038271.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.52925-286G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.57848-286G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.31229-286G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.30653-286G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.50144-286G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.31028-286G>A;VC=Intron;DM=TTN/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:61.5:0:0:136:15:7:NM_001267550.1(TTN) c.57848-286G>A,NM_001267550.1(TTN) c.57848-286G>A:0.07,0.07:NOT_FOUND,NOT_FOUND 2 179460537 . C . . NT END=179462264;NT GT ./. 2 179462547 . C . . NT END=179462634;NT GT ./. 2 179462786 . C . . NT END=179463232;NT GT ./. 2 179463382 . C . . NT END=179463474;NT GT ./. 2 179463790 . C . . NT END=179463872;NT GT ./. 2 179464173 . C . . NT END=179464280;NT GT ./. 2 179464578 . C . . NT END=179465580;NT GT ./. 2 179465899 . C . . NT END=179465991;NT GT ./. 2 179466292 . C . . NT END=179466384;NT GT ./. 2 179466515 . C . . NT END=179466608;NT GT ./. 2 179466642 . C . . NT END=179466728;NT GT ./. 2 179466878 . C . . NT END=179467008;NT GT ./. 2 179467318 . C . . NT END=179468602;NT GT ./. 2 179469033 . C . . NT END=179469434;NT GT ./. 2 179469626 . C . . NT END=179469713;NT GT ./. 2 179470023 . C . . NT END=179470140;NT GT ./. 2 179470441 . C . . NT END=179471747;NT GT ./. 2 179472042 . C . . NT END=179472127;NT GT ./. 2 179472413 . C . . NT END=179472511;NT GT ./. 2 179472809 . C . . NT END=179472904;NT GT ./. 2 179473205 . C . . NT END=179473332;NT GT ./. 2 179473636 . C . . NT END=179473934;NT GT ./. 2 179474298 . C . . NT END=179474410;NT GT ./. 2 179474714 . C . . NT END=179474816;NT GT ./. 2 179475117 . C . . NT END=179475719;NT GT ./. 2 179475999 . C . . NT END=179476098;NT GT ./. 2 179476405 . C . . NT END=179476484;NT GT ./. 2 179476682 . C . . NT END=179476783;NT GT ./. 2 179476890 . C . . NT END=179477003;NT GT ./. 2 179477304 . C . . NT END=179477499;NT GT ./. 2 179477332 rs540117024 AT A 15 idl,rn VT=DEL;SST=Single;DP=93;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=746;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN-AS1/NR_038271.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.45026-30delA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.49949-30delA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.23330-30delA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.22754-30delA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.42245-30delA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.23129-30delA;VC=Intron;DM=TTN/fn3;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:AT,G,I,A:92:38:3:9:80,1,3,8:2439,12,88,262:0.00,-0.21,4.64,15.10:0.00,-0.12,4.68,6.60:0.00,-0.10,-0.04,8.50:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.99:60,60,60,60:17.2,12.0,25.7,7.6:0,0,0,1:0,0,0,0:96,11,41,106:52,140,110,44:36,0,37,23:-,NM_001267550.1(TTN) c.49949-30delA:-,NOT_FOUND:-,NOT_FOUND 2 179477800 . C . . NT END=179477887;NT GT ./. 2 179478004 . C . . NT END=179478477;NT GT ./. 2 179478665 . C . . NT END=179478778;NT GT ./. 2 179479076 . C . . NT END=179479192;NT GT ./. 2 179479481 . C . . NT END=179479573;NT GT ./. 2 179479696 . c . . NT END=179480033;NT GT ./. 2 179480212 . C . . NT END=179480367;NT GT ./. 2 179480516 . C . . NT END=179481205;NT GT ./. 2 179481358 . C . . NT END=179481455;NT GT ./. 2 179481741 . C . . NT END=179481846;NT GT ./. 2 179481962 . C . . NT END=179482051;NT GT ./. 2 179482240 . C . . NT END=179482505;NT GT ./. 2 179482809 . C . . NT END=179482915;NT GT ./. 2 179483219 . C . . NT END=179483310;NT GT ./. 2 179483581 . C . . NT END=179484347;NT GT ./. 2 179484615 . C . . NT END=179484714;NT GT ./. 2 179484840 . C . . NT END=179484943;NT GT ./. 2 179485353 . C . . NT END=179485441;NT GT ./. 2 179485721 . C . . NT END=179485828;NT GT ./. 2 179486096 . C . . NT END=179486201;NT GT ./. 2 179486469 . C . . NT END=179486566;NT GT ./. 2 179486736 . C . . NT END=179487396;NT GT ./. 2 179487495 . C . . NT END=179489191;NT GT ./. 2 179489459 . C . . NT END=179489999;NT GT ./. 2 179490124 . C . . NT END=179494027;NT GT ./. 2 179494171 . C . . NT END=179494967;NT GT ./. 2 179495095 . C . . NT END=179495530;NT GT ./. 2 179495671 . C . . NT END=179495760;NT GT ./. 2 179496028 . C . . NT END=179496873;NT GT ./. 2 179497141 . C . . NT END=179497252;NT GT ./. 2 179497520 . C . . NT END=179497644;NT GT ./. 2 179497772 . C . . NT END=179497913;NT GT ./. 2 179498054 . C . . NT END=179498139;NT GT ./. 2 179498404 . C . . NT END=179498543;NT GT ./. 2 179498811 . C . . NT END=179499092;NT GT ./. 2 179499357 . C . . NT END=179499449;NT GT ./. 2 179499577 . C . . NT END=179499891;NT GT ./. 2 179500032 . C . . NT END=179500166;NT GT ./. 2 179500443 . C . . NT END=179500689;NT GT ./. 2 179500969 . C . . NT END=179501124;NT GT ./. 2 179501527 . C . . NT END=179502095;NT GT ./. 2 179502147 . C . . NT END=179504425;NT GT ./. 2 179504516 . C . . NT END=179504774;NT GT ./. 2 179504838 . C . . NT END=179505267;NT GT ./. 2 179505358 . C . . NT END=179505967;NT GT ./. 2 179506043 . C . . NT END=179506963;NT GT ./. 2 179507045 . C . . NT END=179509274;NT GT ./. 2 179509344 . C . . NT END=179510646;NT GT ./. 2 179510758 . C . . NT END=179511211;NT GT ./. 2 179510831 . TTA T 7 rn VT=DEL;SST=Single;DP=14;PC=0.663;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.35375-76_35375-75delTA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.40298-76_40298-75delTA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-3789_13859-3788delTA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-3789_13283-3788delTA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.32594-76_32594-75delTA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-3789_13658-3788delTA;VC=Intron;DM=TTN/I-set;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,TTA,I,T:14:2:1:3:1,9,1,3:11,237,28,85:0.25,0.00,1.85,6.99:-0.06,0.00,-0.06,-0.20:0.31,0.00,1.91,7.19:0.00,0.00,0.00,0.56:0.00,0.00,0.00,0.49:0.00,0.00,0.00,0.90:60,60,60,60:172.0,12.2,47.0,28.0:0,0,0,0:0,0,0,0:71,146,79,75:80,4,72,75:0,2,0,13:-,NM_001267550.1(TTN) c.40298-76_40298-75delTA:-,NOT_FOUND:-,NOT_FOUND 2 179511287 . C . . NT END=179511790;NT GT ./. 2 179511767 rs375648400 GTATA G 10 sb;idl,nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.35375-1014_35375-1011delTATA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.40222+20_40222+23delTATA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-4727_13859-4724delTATA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-4727_13283-4724delTATA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.32594-1014_32594-1011delTATA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-4727_13658-4724delTATA;VC=Intron;DM=TTN/I-set;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:GTATA,G:26:26:0:7:22,4:693,228:0.00,10.36:0.00,1.54:0.00,8.81:0.00,0.65:0.00,0.94:0.00,0.74:60,60:16.9,19.8:0,3:0,0:45,47:105,103:35,20:-,NM_001267550.1(TTN) c.40222+20_40222+23delTATA:-,NOT_FOUND:-,NOT_FOUND 2 179511872 . C . . NT END=179512107;NT GT ./. 2 179512192 . C . . NT END=179513974;NT GT ./. 2 179513801 rs1469473 C T 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.03674,T/0.9633;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.35374+743G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.40057+174G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-6757G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-6757G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.32593+743G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-6757G>A;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:272:31.48:31.48:0.00:1.00:1.00:0.00:60:43.6:0:0:33:118:25:NM_001267550.1(TTN) c.40057+174G>A,NM_001267550.1(TTN) c.40057+174G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 179514059 . C . . NT END=179514280;NT GT ./. 2 179514364 . A . . NT END=179514543;NT GT ./. 2 179514479 rs72650068 C T 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.9988,T/0.001198;NP=28;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.35374+65G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.39895+65G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-7435G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-7435G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.32593+65G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-7435G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:25:0:0:21,18:703,583:0.00,55.20:0.00,33.16:0.00,22.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,36.7:0,0:0,0:97,89:53,61:39,40:-,NM_001267550.1(TTN) c.39895+65G>A:-,NOT_FOUND:-,NOT_FOUND 2 179514622 . C . . NT END=179514890;NT GT ./. 2 179514999 . C . . NT END=179515477;NT GT ./. 2 179515562 . C . . NT END=179515969;NT GT ./. 2 179516048 . C . . NT END=179516179;NT GT ./. 2 179516264 . C . . NT END=179516392;NT GT ./. 2 179516477 . C . . NT END=179516610;NT GT ./. 2 179516695 . C . . NT END=179516822;NT GT ./. 2 179516907 . C . . NT END=179516990;NT GT ./. 2 179517075 . C . . NT END=179517184;NT GT ./. 2 179517269 . C . . NT END=179517379;NT GT ./. 2 179517464 . C . . NT END=179517574;NT GT ./. 2 179517659 . C . . NT END=179517767;NT GT ./. 2 179517852 . C . . NT END=179517964;NT GT ./. 2 179518049 . C . . NT END=179518153;NT GT ./. 2 179518235 . C . . NT END=179518347;NT GT ./. 2 179518429 . C . . NT END=179518543;NT GT ./. 2 179518638 . A . . NT END=179518738;NT GT ./. 2 179518823 . C . . NT END=179518934;NT GT ./. 2 179519019 . C . . NT END=179519171;NT GT ./. 2 179519262 . C . . NT END=179519471;NT GT ./. 2 179519556 . C . . NT END=179519638;NT GT ./. 2 179519723 . C . . NT END=179522224;NT GT ./. 2 179522309 . C . . NT END=179522413;NT GT ./. 2 179522495 . C . . NT END=179522607;NT GT ./. 2 179522689 . C . . NT END=179522803;NT GT ./. 2 179522885 . C . . NT END=179522998;NT GT ./. 2 179523083 . C . . NT END=179523194;NT GT ./. 2 179523279 . C . . NT END=179523431;NT GT ./. 2 179523368 rs547664921 G A 151 nt VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=NA;NP=376;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.34522+364C>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.37543+64C>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-16324C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-16324C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.31741+364C>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-16324C>T;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:103:51:0:0:48,55:1589,1629:150.96,0.00:90.88,0.00:60.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:38.4,8.7:0,0:0,0:82,55:69,95:38,46:NM_001267550.1(TTN) c.37543+64C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 179523522 . C . . NT END=179523731;NT GT ./. 2 179523816 . C . . NT END=179523898;NT GT ./. 2 179523983 . C . . NT END=179526485;NT GT ./. 2 179526404 . AAT A 14 rn VT=DEL;SST=Single;DP=66;PC=0.041;Gene=MIR548N/NR_031666.1/0;VC=NonCoding;Gene=TTN/NM_001256850.1/0;CC=c.34354+1287_34354+1288delAT;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.37285+80_37285+81delAT;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-19362_13859-19361delAT;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-19362_13283-19361delAT;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.31573+1287_31573+1288delAT;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-19362_13658-19361delAT;VC=Intron;DM=TTN/I-set;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:AAT,T,I,A:66:64:1:7:57,1,1,7:1840,34,32,199:0.00,1.68,1.48,13.65:0.00,1.70,1.50,12.70:0.00,-0.02,-0.02,0.96:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.42:42,27,43,43:12.3,34.0,0.0,3.1:0,0,0,0:0,0,0,0:31,67,10,44:120,84,140,107:29,0,0,32:-,NM_001267550.1(TTN) c.37285+80_37285+81delAT:-,NOT_FOUND:-,NOT_FOUND 2 179526570 . C . . NT END=179526674;NT GT ./. 2 179526756 . C . . NT END=179526868;NT GT ./. 2 179526950 . C . . NT END=179527064;NT GT ./. 2 179527146 . C . . NT END=179527259;NT GT ./. 2 179527344 . C . . NT END=179527455;NT GT ./. 2 179527540 . C . . NT END=179527692;NT GT ./. 2 179527783 . C . . NT END=179527992;NT GT ./. 2 179528077 . C . . NT END=179528159;NT GT ./. 2 179528244 . C . . NT END=179528353;NT GT ./. 2 179528438 . C . . NT END=179528545;NT GT ./. 2 179528630 . C . . NT END=179528741;NT GT ./. 2 179528826 . C . . NT END=179529186;NT GT ./. 2 179529265 . C . . NT END=179529380;NT GT ./. 2 179529465 . C . . NT END=179529578;NT GT ./. 2 179529654 . C . . NT END=179530103;NT GT ./. 2 179530188 . C . . NT END=179530434;NT GT ./. 2 179530519 . C . . NT END=179531550;NT GT ./. 2 179531629 . C . . NT END=179531962;NT GT ./. 2 179532047 . C . . NT END=179532168;NT GT ./. 2 179532253 . C . . NT END=179532364;NT GT ./. 2 179532449 . C . . NT END=179534099;NT GT ./. 2 179534175 . C . . NT END=179534318;NT GT ./. 2 179534403 . C . . NT END=179534944;NT GT ./. 2 179535023 . C . . NT END=179535816;NT GT ./. 2 179535898 . C . . NT END=179536697;NT GT ./. 2 179536995 . C . . NT END=179537133;NT GT ./. 2 179537209 . C . . NT END=179537361;NT GT ./. 2 179537431 . C . . NT END=179538359;NT GT ./. 2 179538438 . C . . NT END=179539040;NT GT ./. 2 179539137 . C . . NT END=179539765;NT GT ./. 2 179539841 . C . . NT END=179540397;NT GT ./. 2 179540482 . C . . NT END=179540647;NT GT ./. 2 179540723 . C . . NT END=179541927;NT GT ./. 2 179542015 . C . . NT END=179542347;NT GT ./. 2 179542062 rs71393434 C CAT 7 idl,rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=42;Gene=TTN/NM_001256850.1/0;CC=c.33340+285_33340+286insAT;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.34292-49_34292-48insAT;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-35019_13859-35018insAT;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-35019_13283-35018insAT;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.30559+285_30559+286insAT;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-35019_13658-35018insAT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T,CAT:28:9:6:0:23,2,3:711,28,187:0.00,0.97,6.68:0.00,-0.17,1.12:0.00,1.14,5.56:0.00,0.00,0.42:0.00,0.00,0.54:0.00,0.00,0.85:60,60,60:16.4,94.5,21.7:0,1,3:0,0,0:118,72,73:27,77,77:25,29,22:-,NM_001267550.1(TTN) c.34292-49_34292-48insAT:-,NOT_FOUND:-,NOT_FOUND 2 179542645 . C . . NT END=179542851;NT GT ./. 2 179542936 . C . . NT END=179543140;NT GT ./. 2 179543225 . C . . NT END=179543473;NT GT ./. 2 179543558 . C . . NT END=179544065;NT GT ./. 2 179544144 . C . . NT END=179544325;NT GT ./. 2 179544410 . C . . NT END=179544620;NT GT ./. 2 179544783 . C . . NT END=179544980;NT GT ./. 2 179545059 . C . . NT END=179545805;NT GT ./. 2 179545899 . C . . NT END=179546102;NT GT ./. 2 179546178 . C . . NT END=179546387;NT GT ./. 2 179546466 . C . . NT END=179547423;NT GT ./. 2 179547631 . C . . NT END=179547937;NT GT ./. 2 179548019 . C . . NT END=179548725;NT GT ./. 2 179548695 rs372078760 AT A 19 idl,rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=295;PC=0.006;Gene=TTN/NM_001256850.1/0;CC=c.31855+30delA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.32806+30delA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-41652delA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-41652delA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.29074+30delA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-41652delA;VC=Intron;DM=TTN/PPAK;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:AT,I,A:41:37:5:10:28,5,8:818,163,295:0.00,12.52,18.99:0.00,10.20,11.41:0.00,2.32,7.58:0.00,0.00,0.97:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:25.0,21.8,44.1:0,0,2:0,0,0:50,48,43:101,86,106:35,15,22:-,NM_001267550.1(TTN) c.32806+30delA:-,NOT_FOUND:-,NOT_FOUND 2 179548810 . C . . NT END=179549056;NT GT ./. 2 179549141 . C . . NT END=179549392;NT GT ./. 2 179549477 . C . . NT END=179549632;NT GT ./. 2 179549717 . C . . NT END=179549979;NT GT ./. 2 179550058 . C . . NT END=179550244;NT GT ./. 2 179550326 . C . . NT END=179552837;NT GT ./. 2 179552952 . C . . NT END=179553403;NT GT ./. 2 179553506 . C . . NT END=179553779;NT GT ./. 2 179553730 rs76973714 A AT 16 idl,rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.003;Gene=TTN/NM_001256850.1/0;CC=c.31144+49_31144+50insA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.32095+49_32095+50insA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-46687_13859-46686insA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-46687_13283-46686insA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.28363+49_28363+50insA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-46687_13658-46686insA;VC=Intron;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:A,AT,D:22:22:6:5:14,6,2:475,190,150:0.00,16.48,3.56:0.00,16.89,-0.38:0.00,-0.42,3.94:0.00,0.92,0.00:0.00,0.99,0.00:0.00,0.85,0.00:60,60,60:27.5,141.7,150.0:0,0,3:0,0,0:103,20,75:26,120,65:17,13,40:-,NM_001267550.1(TTN) c.32095+49_32095+50insA:-,NOT_FOUND:-,NOT_FOUND 2 179553755 rs76264300 G T 11 sb;idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=1;Gene=TTN/NM_001256850.1/0;CC=c.31144+25C>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.32095+25C>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13859-46711C>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13283-46711C>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.28363+25C>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13658-46711C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,G,T:37:23:0:4:1,29,7:12,880,149:-0.01,0.00,10.59:0.19,0.00,12.09:-0.20,0.00,-1.50:0.00,0.00,0.94:0.00,0.00,0.97:0.00,0.00,0.95:60,60,60:133.0,14.0,103.1:0,0,0:0,0,0:25,40,59:113,107,59:0,32,20:-,NM_001267550.1(TTN) c.32095+25C>A:-,NOT_FOUND:-,NOT_FOUND 2 179553864 . C . . NT END=179554016;NT GT ./. 2 179554101 . C . . NT END=179554241;NT GT ./. 2 179554323 . C . . NT END=179554539;NT GT ./. 2 179554624 . C . . NT END=179556742;NT GT ./. 2 179556827 . C . . NT END=179557223;NT GT ./. 2 179557308 . C . . NT END=179558335;NT GT ./. 2 179558417 . C . . NT END=179558648;NT GT ./. 2 179558736 . C . . NT END=179559325;NT GT ./. 2 179559404 . C . . NT END=179559555;NT GT ./. 2 179559634 . C . . NT END=179560074;NT GT ./. 2 179560138 . C . . NT END=179560591;NT GT ./. 2 179560997 . C . . NT END=179561847;NT GT ./. 2 179561896 . C . . NT END=179563569;NT GT ./. 2 179563642 . C . . NT END=179565846;NT GT ./. 2 179563643 rs368277751 TA T 22 idl,rn VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=3;PC=0.911;Gene=TTN/NM_001256850.1/0;CC=c.29732-3delT;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.30683-3delT;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+39165delT;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+39165delT;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.26951-3delT;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+39165delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,TA,I,T:65:46:7:14:2,48,6,9:22,1443,223,338:-0.01,0.00,13.63,21.96:-0.35,0.00,6.97,12.70:0.34,0.00,6.66,9.26:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:60,60,60,60:43.5,26.5,58.7,21.7:0,0,1,2:0,0,0,0:21,95,70,88:129,37,64,57:21,28,22,15:-,NM_001267550.1(TTN) c.30683-3delT:-,NOT_FOUND:-,NOT_FOUND 2 179563702 rs116053231 C T 57 nt VT=SNV;PN=G;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.9906,T/0.009385;Gene=TTN/NM_001256850.1/0;CC=c.29732-61G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.30683-61G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+39107G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+39107G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.26951-61G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+39107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:21:0:0:25,20:796,608:0.00,56.92:0.00,17.18:0.00,39.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.8,44.3:0,0:0,0:106,110:45,31:28,31:-,NM_001267550.1(TTN) c.30683-61G>A:-,0.01:-,NOT_FOUND 2 179565931 . C . . NT END=179566254;NT GT ./. 2 179566091 rs566190716 CT C 7 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=37;PC=0.003;Gene=TTN/NM_001256850.1/0;CC=c.29648-162delA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.30599-162delA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+36717delA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+36717delA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.26867-162delA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+36717delA;VC=Intron;DM=TTN/PPAK;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:CT,T,C:21:8:0:3:17,1,3:576,10,94:0.00,-0.01,7.16:0.00,-0.15,2.36:0.00,0.14,4.80:0.00,0.00,0.49:0.00,0.00,0.66:0.00,0.00,0.79:60,60,60:23.5,87.0,20.7:0,0,0:0,0,0:99,125,59:52,25,92:15,0,46:-,NM_001267550.1(TTN) c.30599-162delA:-,NOT_FOUND:-,NOT_FOUND 2 179566146 rs2251987 T G 57 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.03614,G/0.9639;Gene=TTN/NM_001256850.1/0;CC=c.29647+109A>C;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.30598+109A>C;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+36663A>C;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+36663A>C;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.26866+109A>C;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+36663A>C;VC=Intron;DM=TTN/PPAK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:12:0:0:17:491:57.08:38.00:19.08:1.00:1.00:1.00:60:35.4:0:0:62:85:23:NM_001267550.1(TTN) c.30598+109A>C,NM_001267550.1(TTN) c.30598+109A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 179566315 . C . . NT END=179566766;NT GT ./. 2 179566794 . C . . NT END=179566894;NT GT ./. 2 179566973 . C . . NT END=179567180;NT GT ./. 2 179567391 . C . . NT END=179568873;NT GT ./. 2 179568708 rs72953397 G A 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9824,A/0.01757;Gene=TTN/NM_001256850.1/0;CC=c.29272+166C>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.30223+166C>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+34101C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+34101C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.26491+166C>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+34101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:11,11:317,323:30.33,0.00:30.33,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:32.2,32.2:0,0:0,0:30,71:120,80:15,40:NM_001267550.1(TTN) c.30223+166C>T,-:0.02,-:NOT_FOUND,- 2 179569135 . C . . NT END=179569236;NT GT ./. 2 179569387 rs72650006 T A 156 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=112;DB;DBA=in-clinvar;PAF=T/0.9894,A/0.01058;PC=1.000;Gene=TTN/NM_001256850.1/0;CC=c.28861A>T;ProtCh=p.T9621S;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.29812A>T;ProtCh=p.T9938S;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.13858+33422A>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+33422A>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.26080A>T;ProtCh=p.T8694S;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.13657+33422A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:112:49:0:0:52,60:1652,1898:156.35,0.00:49.58,0.00:106.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,2.1:0,0:0,0:95,83:50,63:34,32:NM_001267550.1(TTN) c.29812A>T (p.Thr9938Ser),-:0.01,-:0.02046,- 2 179569505 . C . . NT END=179569603;NT GT ./. 2 179569694 . C . . NT END=179569900;NT GT ./. 2 179570085 . C . . NT END=179571180;NT GT ./. 2 179571063 . T C 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;NP=1;PC=0.004;Gene=TTN/NM_001256850.1/0;CC=c.28469+118A>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.29420+118A>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+31746A>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+31746A>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.25688+118A>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+31746A>G;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:34:0:0:17,17:541,534:51.96,0.00:51.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.2,4.8:0,0:0,0:27,34:124,116:22,28:NM_001267550.1(TTN) c.29420+118A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 179571467 . C . . NT END=179571588;NT GT ./. 2 179571682 . C . . NT END=179572252;NT GT ./. 2 179572541 . C . . NT END=179574292;NT GT ./. 2 179574584 . C . . NT END=179575361;NT GT ./. 2 179575650 . C . . NT END=179575788;NT GT ./. 2 179576077 . C . . NT END=179576670;NT GT ./. 2 179576950 . C . . NT END=179577041;NT GT ./. 2 179577321 . C . . NT END=179577423;NT GT ./. 2 179577703 . C . . NT END=179577811;NT GT ./. 2 179578100 . C . . NT END=179578623;NT GT ./. 2 179578337 rs2562840 A C 67 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.01837,C/0.9816;Gene=TTN/NM_001256850.1/0;CC=c.25811-238T>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.26762-238T>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+24472T>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+24472T>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.23030-238T>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+24472T>G;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:7:0:0:19:575:66.50:26.24:40.26:1.00:1.00:1.00:60:43.9:0:0:88:63:35:NM_001267550.1(TTN) c.26762-238T>G,NM_001267550.1(TTN) c.26762-238T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 179578903 . C . . NT END=179579018;NT GT ./. 2 179579301 . C . . NT END=179579712;NT GT ./. 2 179579977 rs72648987 G A 73 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=in-clinvar;PAF=G/0.9906,A/0.009385;PC=0.437;Gene=TTN/NM_001256850.1/0;CC=c.24985C>T;ProtCh=p.R8329C;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.25936C>T;ProtCh=p.R8646C;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.13858+22832C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+22832C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.22204C>T;ProtCh=p.R7402C;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.13657+22832C>T;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:32:0:0:24,46:812,1376:73.12,0.00:35.42,0.00:37.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,8.8:0,0:0,0:97,88:53,60:38,37:NM_001267550.1(TTN) c.25936C>T (p.Arg8646Cys),-:0.01,-:0.017343,- 2 179579992 . C . . NT END=179580219;NT GT ./. 2 179580502 . C . . NT END=179581821;NT GT ./. 2 179582110 . C . . NT END=179582249;NT GT ./. 2 179582538 . C . . NT END=179582669;NT GT ./. 2 179582949 . C . . NT END=179583048;NT GT ./. 2 179583328 . C . . NT END=179583421;NT GT ./. 2 179583701 . C . . NT END=179583890;NT GT ./. 2 179584179 . C . . NT END=179584280;NT GT ./. 2 179584560 . C . . NT END=179584709;NT GT ./. 2 179584992 . C . . NT END=179585111;NT GT ./. 2 179585266 rs2562831 C T 444 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=117;DB;DBA=in-clinvar;PAF=C/0.01797,T/0.982;PC=0.999;Gene=TTN/NM_001256850.1/0;CC=c.22272G>A;ProtCh=p.Q7424=;VC=Silent;Gene=TTN/NM_001267550.2/0;CC=c.23223G>A;ProtCh=p.Q7741=;VC=Silent;Gene=TTN/NM_133437.4/0;CC=c.13858+17543G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+17543G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.19491G>A;ProtCh=p.Q6497=;VC=Silent;Gene=TTN/NM_133432.3/0;CC=c.13657+17543G>A;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:117:66:0:0:117:3880:443.71:198.47:245.24:1.00:1.00:1.00:60:38.2:0:0:75:72:34:NM_001267550.1(TTN) c.23223G>A (p.(=)),NM_001267550.1(TTN) c.23223G>A (p.(=)):0.99,0.99:0.981412,0.981412 2 179585391 . C . . NT END=179585647;NT GT ./. 2 179585930 . C . . NT END=179586573;NT GT ./. 2 179586862 . C . . NT END=179586985;NT GT ./. 2 179587274 . C . . NT END=179587385;NT GT ./. 2 179587665 . C . . NT END=179587772;NT GT ./. 2 179588052 . C . . NT END=179588144;NT GT ./. 2 179588424 . C . . NT END=179588582;NT GT ./. 2 179588871 . C . . NT END=179588986;NT GT ./. 2 179589266 . C . . NT END=179590094;NT GT ./. 2 179590377 . C . . NT END=179590494;NT GT ./. 2 179590774 . C . . NT END=179591816;NT GT ./. 2 179592099 . C . . NT END=179592311;NT GT ./. 2 179592591 . C . . NT END=179592836;NT GT ./. 2 179593125 . C . . NT END=179593226;NT GT ./. 2 179593506 . C . . NT END=179593617;NT GT ./. 2 179593897 . C . . NT END=179594014;NT GT ./. 2 179594294 . C . . NT END=179594390;NT GT ./. 2 179594673 . C . . NT END=179594819;NT GT ./. 2 179594780 . T A 10 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=90;Gene=TTN/NM_001256850.1/0;CC=c.17356+40A>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.18307+40A>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+8029A>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+8029A>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.14575+40A>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+8029A>T;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,T:90:51:0:0:14,76:196,2227:9.74,0.00:12.99,0.00:-3.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:105.3,17.7:0,0:0,0:84,35:47,112:28,28:NM_001267550.1(TTN) c.18307+40A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 179595099 . C . . NT END=179595231;NT GT ./. 2 179595520 . C . . NT END=179595651;NT GT ./. 2 179595577 rs576861043 G GT 15 rn VT=INS;SST=Single;DP=74;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=79;Gene=TTN/NM_001256850.1/0;CC=c.16790-59dupA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.17741-59dupA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.13858+7231dupA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+7231dupA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.14009-59dupA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.13657+7231dupA;VC=Intron;DM=TTN/I-set;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:G,GT:73:44:8:1:66,7:2164,254:0.00,15.43:0.00,10.25:0.00,5.18:0.00,0.89:0.00,0.95:0.00,0.94:60,70:7.5,20.1:0,1:0,0:94,91:54,58:38,45:-,NM_001267550.1(TTN) c.17741-59_17741-58insA:-,NOT_FOUND:-,NOT_FOUND 2 179595931 . C . . NT END=179596031;NT GT ./. 2 179596311 . C . . NT END=179596419;NT GT ./. 2 179596699 . C . . NT END=179596792;NT GT ./. 2 179597075 . C . . NT END=179597166;NT GT ./. 2 179597446 . C . . NT END=179597560;NT GT ./. 2 179597849 . C . . NT END=179597965;NT GT ./. 2 179598245 . C . . NT END=179598340;NT GT ./. 2 179598620 . C . . NT END=179599054;NT GT ./. 2 179599334 . C . . NT END=179599433;NT GT ./. 2 179599716 . C . . NT END=179600237;NT GT ./. 2 179600563 rs2742348 G A 423 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=112;DB;DBA=in-clinvar;PAF=G/0.01817,A/0.9818;PC=0.782;Gene=TTN/NM_001256850.1/0;CC=c.13659C>T;ProtCh=p.S4553=;VC=Silent;Gene=TTN/NM_001267550.2/0;CC=c.14610C>T;ProtCh=p.S4870=;VC=Silent;Gene=TTN/NM_133437.4/0;CC=c.13858+2246C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.13282+2246C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10878C>T;ProtCh=p.S3626=;VC=Silent;Gene=TTN/NM_133432.3/0;CC=c.13657+2246C>T;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:112:67:0:0:112:3698:423.10:190.14:232.96:1.00:1.00:1.00:60:39.2:0:0:80:66:36:NM_001267550.1(TTN) c.14610C>T (p.(=)),NM_001267550.1(TTN) c.14610C>T (p.(=)):0.99,0.99:0.981026,0.981026 2 179600802 . C . . NT END=179602808;NT GT ./. 2 179603088 . C . . NT END=179603867;NT GT ./. 2 179606649 . C . . NT END=179609131;NT GT ./. 2 179610172 rs3813240 T A 98 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.9525,A/0.04752;Gene=TTN/NM_001256850.1/0;CC=c.10361-3524A>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11312-3524A>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10799-3524A>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10223-3524A>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10361-7085A>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10598-3524A>T;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.*140A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:75:53:0:0:34,2,39:1033,19,1251:97.52,-0.05,0.00:57.15,-0.09,0.00:40.37,0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.9,124.0,4.6:0,0,0:0,0,0:79,50,71:70,87,80:39,29,37:NM_001267550.1(TTN) c.11312-3524A>T,-:0.05,-:NOT_FOUND,- 2 179611851 rs72648910 C T 15 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=145;DB;DBA=in-clinvar;PAF=C/0.9601,T/0.03994;Gene=TTN/NM_001256850.1/0;CC=c.10361-5203G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11312-5203G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10799-5203G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10223-5203G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10360+6000G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10598-5203G>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.15276G>A;ProtCh=p.L5092=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,C,G,T:145:96:0:0:3,119,3,20:36,3060,46,292:-0.24,0.00,0.51,14.56:0.01,0.00,-0.61,12.35:-0.25,0.00,1.12,2.21:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:71.7,24.1,88.7,54.7:0,0,0,0:0,0,0,0:65,76,53,82:50,66,98,49:8,34,15,32:-,NM_001267550.1(TTN) c.11312-5203G>A:-,0.04:-,0.025312 2 179614952 rs10803917 A G 396 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=101;DB;DBA=in-clinvar;PAF=A/0.02496,G/0.975;Gene=TTN/NM_001256850.1/0;CC=c.10360+2899T>C;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11311+2899T>C;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10798+2899T>C;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10222+2899T>C;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10360+2899T>C;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10597+2899T>C;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.12175T>C;ProtCh=p.L4059=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:101:62:0:0:101:3478:395.95:183.93:212.02:1.00:1.00:1.00:60:41.1:0:0:66:82:30:NM_001267550.1(TTN) c.11311+2899T>C,NM_001267550.1(TTN) c.11311+2899T>C:0.98,0.98:0.972547,0.972547 2 179615887 rs922984 T C 325 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=86;DB;DBA=in-clinvar;PAF=T/0.267,C/0.733;PC=0.054;Gene=TTN/NM_001256850.1/0;CC=c.10360+1964A>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11311+1964A>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10798+1964A>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10222+1964A>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10360+1964A>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10597+1964A>G;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.11240A>G;ProtCh=p.D3747G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:86:54:0:0:86:2839:324.84:178.59:146.25:1.00:1.00:1.00:60:70.8:0:0:78:68:37:NM_001267550.1(TTN) c.11311+1964A>G,NM_001267550.1(TTN) c.11311+1964A>G:0.78,0.78:0.818063,0.818063 2 179615931 rs922985 C G 352 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=95;DB;DBA=in-clinvar;PAF=C/0.02496,G/0.975;Gene=TTN/NM_001256850.1/0;CC=c.10360+1920G>C;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11311+1920G>C;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10798+1920G>C;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10222+1920G>C;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10360+1920G>C;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10597+1920G>C;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.11196G>C;ProtCh=p.L3732F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:95:69:0:0:95:3072:352.28:216.65:135.64:1.00:1.00:1.00:60:78.8:0:0:71:77:40:NM_001267550.1(TTN) c.11311+1920G>C,NM_001267550.1(TTN) c.11311+1920G>C:0.98,0.98:0.972453,0.972453 2 179615994 rs922986 T C 371 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=in-clinvar;PAF=T/0.02496,C/0.975;Gene=TTN/NM_001256850.1/0;CC=c.10360+1857A>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11311+1857A>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10798+1857A>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10222+1857A>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10360+1857A>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10597+1857A>G;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.11133A>G;ProtCh=p.T3711=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:102:77:0:0:102:3231:371.28:234.01:137.27:1.00:1.00:1.00:60:62.7:0:0:76:72:34:NM_001267550.1(TTN) c.11311+1857A>G,NM_001267550.1(TTN) c.11311+1857A>G:0.98,0.98:0.972466,0.972466 2 179616767 . C . . NT END=179617850;NT GT ./. 2 179616770 rs58651353 GA G 59 idl,rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=in-clinvar;PAF=NA;NP=134;PC=0.018;Gene=TTN/NM_001256850.1/0;CC=c.10360+1080delT;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11311+1080delT;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10798+1080delT;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10222+1080delT;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10360+1080delT;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10597+1080delT;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.10361-5delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:56:23:4:23:2,30,3,21:45,926,122,674:2.29,0.00,5.80,58.91:-0.11,0.00,3.08,18.00:2.40,0.00,2.71,40.91:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:33.5,16.2,0.0,22.5:1,0,1,1:0,0,0,0:38,133,87,103:113,9,55,42:32,16,12,15:-,NM_001267550.1(TTN) c.11311+1080delT:-,NOT_FOUND:-,NOT_FOUND 2 179617908 . C . . NT END=179620948;NT GT ./. 2 179618019 rs3754953 T A 44 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1955,A/0.8045;Gene=TTN/NM_001256850.1/0;CC=c.10304-112A>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11255-112A>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.10742-112A>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.10166-112A>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10304-112A>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10541-112A>T;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.10304-112A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:1:0:0:12:385:44.22:1.99:42.23:1.00:1.00:1.00:60:36.6:0:0:87:63:38:NM_001267550.1(TTN) c.11255-112A>T,NM_001267550.1(TTN) c.11255-112A>T:0.84,0.84:NOT_FOUND,NOT_FOUND 2 179620951 rs7585334 C T 240 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=in-clinvar;PAF=C/0.1955,T/0.8045;PC=1.000;Gene=TTN/NM_001256850.1/0;CC=c.10303+2760G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.11252G>A;ProtCh=p.G3751D;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.10739G>A;ProtCh=p.G3580D;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.10165+2760G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10303+2760G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10540+1318G>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.10303+2760G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:T:64:59:0:0:64:2094:239.92:197.72:42.20:1.00:1.00:1.00:60:37.9:0:0:51:95:32:NM_001267550.1(TTN) c.11252G>A (p.Gly3751Asp),NM_001267550.1(TTN) c.11252G>A (p.Gly3751Asp):0.84,0.84:0.90281,0.90281 2 179621477 rs6433728 C T 387 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.0009984,C/0.999;NP=3474;PC=0.998;Gene=TTN/NM_001256850.1/0;CC=c.10303+2234G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.10726G>A;ProtCh=p.A3576T;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.10213G>A;ProtCh=p.A3405T;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.10165+2234G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10303+2234G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.10540+792G>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.10303+2234G>A;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:104:53:0:0:104:3379:387.41:130.76:256.65:1.00:1.00:1.00:60:41.9:0:0:78:67:31:NM_001267550.1(TTN) c.10726G>A (p.Ala3576Thr),NM_001267550.1(TTN) c.10726G>A (p.Ala3576Thr):1,1:0.999169,0.999169 2 179621525 . C . . NT END=179622268;NT GT ./. 2 179622644 . C . . NT END=179623710;NT GT ./. 2 179623758 rs2291310 C T 276 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=in-clinvar;PAF=C/0.1911,T/0.8089;PC=0.044;Gene=TTN/NM_001256850.1/0;CC=c.10256G>A;ProtCh=p.S3419N;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.10256G>A;ProtCh=p.S3419N;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.10118G>A;ProtCh=p.S3373N;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.10118G>A;ProtCh=p.S3373N;VC=Missense;Gene=TTN/NM_133378.4/0;CC=c.10256G>A;ProtCh=p.S3419N;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.10118G>A;ProtCh=p.S3373N;VC=Missense;Gene=TTN/NM_133379.4/1;CC=c.10256G>A;ProtCh=p.S3419N;VC=Missense;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:60:0:0:74:2410:276.21:181.64:94.57:1.00:1.00:1.00:60:37.4:0:0:68:74:31:NM_001267550.1(TTN) c.10256G>A (p.Ser3419Asn),NM_001267550.1(TTN) c.10256G>A (p.Ser3419Asn):0.84,0.84:0.902353,0.902353 2 179623900 . C . . NT END=179628903;NT GT ./. 2 179623939 rs6705594 T C 194 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.001597,C/0.9984;NP=3477;Gene=TTN/NM_001256850.1/0;CC=c.10115-40A>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.10115-40A>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.9977-40A>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.9977-40A>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10115-40A>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.9977-40A>G;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.10115-40A>G;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:159:C:57:20:0:0:57:1673:194.15:43.13:151.02:1.00:1.00:1.00:60:33.0:0:0:101:47:29:NM_001267550.1(TTN) c.10115-40A>G,NM_001267550.1(TTN) c.10115-40A>G:1,1:0.999,0.999 2 179628661 rs397793554 A AT 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.145,AT/0.855;DB;DBA=NA;PAF=A/0.145,AT/0.855;NP=302;Gene=TTN/NM_001256850.1/0;CC=c.10114+242_10114+243insA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.10114+242_10114+243insA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.9976+242_9976+243insA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.9976+242_9976+243insA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10114+242_10114+243insA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.9976+242_9976+243insA;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.10114+242_10114+243insA;VC=Intron;DM=TTN/I-set;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,AT:4:4:3:0:1,3:33,98:0.00,10.25:0.00,10.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:122.0,32.3:1,0:0,0:100,19:51,131:0,8:-,NM_001267550.1(TTN) c.10114+242_10114+243insA:-,0.9:-,NOT_FOUND 2 179628680 rs1484119 G C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4956,C/0.5044;Gene=TTN/NM_001256850.1/0;CC=c.10114+224C>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.10114+224C>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.9976+224C>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.9976+224C>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.10114+224C>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.9976+224C>G;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.10114+224C>G;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:139:16.25:16.25:0.00:1.00:1.00:0.00:60:50.4:0:0:39:111:24:NM_001267550.1(TTN) c.10114+224C>G,NM_001267550.1(TTN) c.10114+224C>G:0.55,0.55:NOT_FOUND,NOT_FOUND 2 179629030 . C . . NT END=179629253;NT GT ./. 2 179629363 rs4894043 T C 514 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=137;DB;DBA=in-clinvar;PAF=T/0.02636,C/0.9736;PC=0.994;Gene=TTN/NM_001256850.1/0;CC=c.9879A>G;ProtCh=p.E3293=;VC=Silent;Gene=TTN/NM_001267550.2/0;CC=c.9879A>G;ProtCh=p.E3293=;VC=Silent;Gene=TTN/NM_133437.4/0;CC=c.9741A>G;ProtCh=p.E3247=;VC=Silent;Gene=TTN/NM_003319.4/0;CC=c.9741A>G;ProtCh=p.E3247=;VC=Silent;Gene=TTN/NM_133378.4/0;CC=c.9879A>G;ProtCh=p.E3293=;VC=Silent;Gene=TTN/NM_133432.3/0;CC=c.9741A>G;ProtCh=p.E3247=;VC=Silent;Gene=TTN/NM_133379.4/1;CC=c.9879A>G;ProtCh=p.E3293=;VC=Silent;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:137:88:0:0:1,135,1:10,4521,33:0.07,513.61,0.00:0.07,265.98,0.00:0.00,247.63,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:110.0,52.7,26.0:0,0,0:0,0,0:83,80,29:68,70,122:0,39,0:NM_001267550.1(TTN) c.9879A>G (p.(=)),NM_001267550.1(TTN) c.9879A>G (p.(=)):0.98,0.98:0.970321,0.970321 2 179629461 rs2291311 C T 510 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=138;DB;DBA=in-clinvar;PAF=C/0.1951,T/0.8049;PC=0.480;Gene=TTN/NM_001256850.1/0;CC=c.9781G>A;ProtCh=p.V3261M;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.9781G>A;ProtCh=p.V3261M;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.9643G>A;ProtCh=p.V3215M;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.9643G>A;ProtCh=p.V3215M;VC=Missense;Gene=TTN/NM_133378.4/0;CC=c.9781G>A;ProtCh=p.V3261M;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.9643G>A;ProtCh=p.V3215M;VC=Missense;Gene=TTN/NM_133379.4/1;CC=c.9781G>A;ProtCh=p.V3261M;VC=Missense;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:138:82:0:0:138:4449:510.46:212.20:298.26:1.00:1.00:1.00:60:50.3:0:0:71:78:32:NM_001267550.1(TTN) c.9781G>A (p.Val3261Met),NM_001267550.1(TTN) c.9781G>A (p.Val3261Met):0.84,0.84:0.896509,0.896509 2 179629539 . C . . NT END=179631107;NT GT ./. 2 179631340 . C . . NT END=179632485;NT GT ./. 2 179632652 . C . . NT END=179632740;NT GT ./. 2 179632710 rs2291313 T C 562 nt VT=SNV;PN=T;NN=A;SST=Single;DP=148;DB;DBA=NA;PAF=T/0.496,C/0.504;Gene=TTN/NM_001256850.1/0;CC=c.9305+31A>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.9305+31A>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.9167+31A>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.9167+31A>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.9305+31A>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.9167+31A>G;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.9305+31A>G;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:148:81:0:0:1,147:8,4921:0.04,561.62:0.00,246.78:0.04,314.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,42.2:0,0:0,0:107,69:43,74:0,38:NM_001267550.1(TTN) c.9305+31A>G,NM_001267550.1(TTN) c.9305+31A>G:0.55,0.55:0.684146,0.684146 2 179632883 . C . . NT END=179633399;NT GT ./. 2 179633298 rs4471922 G T 187 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.4425,T/0.5575;Gene=TTN/NM_001256850.1/0;CC=c.9163+102C>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.9163+102C>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.9025+102C>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.9025+102C>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.9163+102C>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.9025+102C>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.9163+102C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:50:0:0:52:1622:186.96:181.32:5.63:1.00:1.00:1.00:60:39.1:0:0:36:114:29:NM_001267550.1(TTN) c.9163+102C>A,NM_001267550.1(TTN) c.9163+102C>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 179633661 . C . . NT END=179634405;NT GT ./. 2 179634376 rs72125115 GTA G 97 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1119;PC=0.002;Gene=TTN/NM_001256850.1/0;CC=c.8902+28_8902+29delTA;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.8902+28_8902+29delTA;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.8764+28_8764+29delTA;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.8764+28_8764+29delTA;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.8902+28_8902+29delTA;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.8764+28_8764+29delTA;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.8902+28_8902+29delTA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:GTA,T,G:33:31:0:32:3,1,29:79,8,969:0.00,0.11,96.79:0.00,0.11,66.08:0.00,0.00,30.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:33.7,74.0,20.9:0,0,3:0,0,0:144,81,49:7,69,102:2,0,21:-,NM_001267550.1(TTN) c.8902+28_8902+29delTA:-,NOT_FOUND:-,NOT_FOUND 2 179634667 . C . . NT END=179634786;NT GT ./. 2 179635048 . C . . NT END=179635138;NT GT ./. 2 179635403 . C . . NT END=179635937;NT GT ./. 2 179635789 rs4893854 A T 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.05132,T/0.9487;Gene=TTN/NM_001256850.1/0;CC=c.8116+149T>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.8116+149T>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.7978+149T>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.7978+149T>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.8116+149T>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.7978+149T>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.8116+149T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:465:54.54:54.54:0.00:1.00:1.00:0.00:60:76.1:0:0:30:121:27:NM_001267550.1(TTN) c.8116+149T>A,NM_001267550.1(TTN) c.8116+149T>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 179635882 rs4894047 C T 182 nt VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.03215,T/0.9679;Gene=TTN/NM_001256850.1/0;CC=c.8116+56G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.8116+56G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.7978+56G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.7978+56G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.8116+56G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.7978+56G>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.8116+56G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:T:49:43:0:0:49:1583:181.57:137.09:44.49:1.00:1.00:1.00:60:46.3:0:0:43:105:25:NM_001267550.1(TTN) c.8116+56G>A,NM_001267550.1(TTN) c.8116+56G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 179636199 . C . . NT END=179637835;NT GT ./. 2 179638097 . C . . NT END=179638188;NT GT ./. 2 179638453 . C . . NT END=179638564;NT GT ./. 2 179638838 . C . . NT END=179638933;NT GT ./. 2 179639201 . C . . NT END=179639647;NT GT ./. 2 179639297 rs3816781 C T 80 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1058,T/0.8942;Gene=TTN/NM_001256850.1/0;CC=c.6791-97G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.6791-97G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.6653-97G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.6653-97G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.6791-97G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.6653-97G>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.6791-97G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:7:0:0:21:696:79.61:23.41:56.20:1.00:1.00:1.00:60:35.5:0:0:106:45:22:NM_001267550.1(TTN) c.6791-97G>A,NM_001267550.1(TTN) c.6791-97G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 179639498 rs4894049 C G 65 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.07827,G/0.9217;Gene=TTN/NM_001256850.1/0;CC=c.6790+150G>C;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.6790+150G>C;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.6652+150G>C;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.6652+150G>C;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.6790+150G>C;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.6652+150G>C;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.6790+150G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:16:0:0:19:560:64.95:53.72:11.23:1.00:1.00:1.00:60:54.8:0:0:55:96:45:NM_001267550.1(TTN) c.6790+150G>C,NM_001267550.1(TTN) c.6790+150G>C:0.92,0.92:NOT_FOUND,NOT_FOUND 2 179639930 . C . . NT END=179640082;NT GT ./. 2 179641777 . C . . NT END=179641875;NT GT ./. 2 179642045 . C . . NT END=179642146;NT GT ./. 2 179642312 . C . . NT END=179642430;NT GT ./. 2 179642425 rs719201 G A 480 nt VT=SNV;PN=C;NN=C;SST=Single;DP=131;DB;DBA=in-clinvar;PAF=G/0.08846,A/0.9115;PC=0.033;Gene=TTN/NM_001256850.1/0;CC=c.4480+6C>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.4480+6C>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.4342+6C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.4342+6C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.4480+6C>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.4342+6C>T;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.4480+6C>T;VC=Intron;Gene=LOC101927055/NR_120594.1/0;VC=NonCoding;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:131:91:0:0:131:4177:480.01:274.20:205.81:1.00:1.00:1.00:60:38.4:0:0:69:76:29:NM_001267550.1(TTN) c.4480+6C>T,NM_001267550.1(TTN) c.4480+6C>T:0.91,0.91:0.946486,0.946486 2 179642703 . C . . NT END=179643600;NT GT ./. 2 179642925 rs7570526 T C 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.001398,C/0.9986;NP=140;Gene=TTN/NM_001256850.1/0;CC=c.4209-223A>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.4209-223A>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.4071-223A>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.4071-223A>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.4209-223A>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.4071-223A>G;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.4209-223A>G;VC=Intron;Gene=LOC101927055/NR_120594.1/0;VC=NonCoding;DM=TTN/Syndecan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:315:36.23:0.00:36.23:1.00:0.00:1.00:60:35.8:0:0:103:46:33:NM_001267550.1(TTN) c.4209-223A>G,NM_001267550.1(TTN) c.4209-223A>G:1,1:NOT_FOUND,NOT_FOUND 2 179643846 . C . . NT END=179643955;NT GT ./. 2 179643886 rs2291302 A G 283 nt VT=SNV;PN=C;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.08007,G/0.9199;Gene=TTN/NM_001256850.1/0;CC=c.3964-41T>C;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.3964-41T>C;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.3826-41T>C;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.3826-41T>C;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.3964-41T>C;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.3826-41T>C;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.3964-41T>C;VC=Intron;Gene=LOC101927055/NR_120594.1/0;VC=NonCoding;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:81:43:0:0:81:2449:282.91:113.54:169.37:1.00:1.00:1.00:60:60.7:0:0:78:72:36:NM_001267550.1(TTN) c.3964-41T>C,NM_001267550.1(TTN) c.3964-41T>C:0.92,0.92:0.951023,0.951023 2 179643934 rs2291301 A G 320 nt VT=SNV;PN=T;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=A/0.07987,G/0.9201;Gene=TTN/NM_001256850.1/0;CC=c.3963+22T>C;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.3963+22T>C;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.3825+22T>C;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.3825+22T>C;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.3963+22T>C;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.3825+22T>C;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.3963+22T>C;VC=Intron;Gene=LOC101927055/NR_120594.1/0;VC=NonCoding;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:47:0:0:85:2795:319.96:153.82:166.13:1.00:1.00:1.00:60:67.3:0:0:72:77:41:NM_001267550.1(TTN) c.3963+22T>C,NM_001267550.1(TTN) c.3963+22T>C:0.92,0.92:0.952242,0.952242 2 179644035 rs1552280 G A 302 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=84;DB;DBA=in-clinvar;PAF=G/0.07987,A/0.9201;PC=1.000;Gene=TTN/NM_001256850.1/0;CC=c.3884C>T;ProtCh=p.S1295L;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.3884C>T;ProtCh=p.S1295L;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.3746C>T;ProtCh=p.S1249L;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.3746C>T;ProtCh=p.S1249L;VC=Missense;Gene=TTN/NM_133378.4/0;CC=c.3884C>T;ProtCh=p.S1295L;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.3746C>T;ProtCh=p.S1249L;VC=Missense;Gene=TTN/NM_133379.4/1;CC=c.3884C>T;ProtCh=p.S1295L;VC=Missense;Gene=LOC101927055/NR_120594.1/0;VC=NonCoding;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:84:49:0:0:84:2625:302.36:151.00:151.36:1.00:1.00:1.00:60:49.4:0:0:96:54:26:NM_001267550.1(TTN) c.3884C>T (p.Ser1295Leu),NM_001267550.1(TTN) c.3884C>T (p.Ser1295Leu):0.93,0.93:0.950861,0.950861 2 179644190 . C . . NT END=179644726;NT GT ./. 2 179644304 rs2035496 G A 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.07827,A/0.9217;Gene=TTN/NM_001256850.1/0;CC=c.3730-115C>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.3730-115C>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.3592-115C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.3592-115C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.3730-115C>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.3592-115C>T;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.3730-115C>T;VC=Intron;Gene=LOC101927055/NR_120594.1/0;VC=NonCoding;DM=TTN/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:298:34.09:0.00:34.09:1.00:0.00:1.00:60:52.2:0:0:86:65:40:NM_001267550.1(TTN) c.3730-115C>T,NM_001267550.1(TTN) c.3730-115C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 2 179644855 rs10497520 T C 210 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=57;DB;DBA=in-clinvar;PAF=T/0.4998,C/0.5002;PC=1.000;Gene=TTN/NM_001256850.1/0;CC=c.3601A>G;ProtCh=p.K1201E;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.3601A>G;ProtCh=p.K1201E;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.3463A>G;ProtCh=p.K1155E;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.3463A>G;ProtCh=p.K1155E;VC=Missense;Gene=TTN/NM_133378.4/0;CC=c.3601A>G;ProtCh=p.K1201E;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.3463A>G;ProtCh=p.K1155E;VC=Missense;Gene=TTN/NM_133379.4/1;CC=c.3601A>G;ProtCh=p.K1201E;VC=Missense;DM=TTN/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C,T:57:27:0:0:56,1:1850,8:210.08,0.00:81.50,0.00:128.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,60.0:0,0:0,0:75,47:74,104:29,0:NM_001267550.1(TTN) c.3601A>G (p.Lys1201Glu),NM_001267550.1(TTN) c.3601A>G (p.Lys1201Glu):0.55,0.55:0.734892,0.734892 2 179644933 . C . . NT END=179645847;NT GT ./. 2 179645106 rs12693168 A T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.07987,T/0.9201;Gene=TTN/NM_001256850.1/0;CC=c.3524-174T>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.3524-174T>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.3386-174T>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.3386-174T>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.3524-174T>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.3386-174T>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.3524-174T>A;VC=Intron;DM=TTN/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:0:0:0:8:225:26.22:0.00:26.22:1.00:0.00:1.00:60:31.9:0:0:97:53:24:NM_001267550.1(TTN) c.3524-174T>A,NM_001267550.1(TTN) c.3524-174T>A:0.92,0.92:NOT_FOUND,NOT_FOUND 2 179645577 rs2054708 C T 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2542,T/0.7458;Gene=TTN/NM_001256850.1/0;CC=c.3523+271G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.3523+271G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.3385+271G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.3385+271G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.3523+271G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.3385+271G>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.3523+271G>A;VC=Intron;DM=TTN/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:286:32.88:32.88:0.00:1.00:1.00:0.00:60:33.6:0:0:53:98:34:NM_001267550.1(TTN) c.3523+271G>A,NM_001267550.1(TTN) c.3523+271G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 2 179645991 . C . . NT END=179646938;NT GT ./. 2 179646334 rs2054707 G A 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.07987,A/0.9201;PC=0.390;Gene=TTN/NM_001256850.1/0;CC=c.3381-344C>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.3381-344C>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.3243-344C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.3243-344C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.3381-344C>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.3243-344C>T;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.3381-344C>T;VC=Intron;DM=TTN/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:136:15.91:0.00:15.91:1.00:0.00:1.00:60:62.2:0:0:114:35:0:NM_001267550.1(TTN) c.3381-344C>T,NM_001267550.1(TTN) c.3381-344C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 2 179647155 . C . . NT END=179647265;NT GT ./. 2 179647330 . C . . NT END=179647532;NT GT ./. 2 179647792 . C . . NT END=179648446;NT GT ./. 2 179648513 . C . . NT END=179648796;NT GT ./. 2 179649079 . C . . NT END=179650346;NT GT ./. 2 179650408 rs35813871 G A 139 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=106;DB;DBA=in-clinvar;PAF=G/0.8996,A/0.1004;PC=1.000;Gene=TTN/NM_001256850.1/0;CC=c.2432C>T;ProtCh=p.T811I;VC=Missense;Gene=TTN/NM_001267550.2/0;CC=c.2432C>T;ProtCh=p.T811I;VC=Missense;Gene=TTN/NM_133437.4/0;CC=c.2294C>T;ProtCh=p.T765I;VC=Missense;Gene=TTN/NM_003319.4/0;CC=c.2294C>T;ProtCh=p.T765I;VC=Missense;Gene=TTN/NM_133378.4/0;CC=c.2432C>T;ProtCh=p.T811I;VC=Missense;Gene=TTN/NM_133432.3/0;CC=c.2294C>T;ProtCh=p.T765I;VC=Missense;Gene=TTN/NM_133379.4/1;CC=c.2432C>T;ProtCh=p.T811I;VC=Missense;DM=TTN/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:106:82:0:0:46,60:1482,1957:138.64,0.00:91.88,0.00:46.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,10.3:0,0:0,0:67,80:74,64:31,29:NM_001267550.1(TTN) c.2432C>T (p.Thr811Ile),-:0.13,-:0.189682,- 2 179650470 . C . . NT END=179650574;NT GT ./. 2 179650869 . C . . NT END=179654086;NT GT ./. 2 179650954 rs6715901 G A 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.7236,A/0.2764;Gene=TTN/NM_001256850.1/0;CC=c.2077-86C>T;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.2077-86C>T;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.1939-86C>T;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.1939-86C>T;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.2077-86C>T;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.1939-86C>T;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.2077-86C>T;VC=Intron;DM=TTN/EGF;DM=TTN/PPAK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:8:0:0:26,19:851,626:84.17,0.00:6.25,0.00:77.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,9.6:0,0:0,0:106,95:44,56:22,25:NM_001267550.1(TTN) c.2077-86C>T,-:0.31,-:NOT_FOUND,- 2 179654225 . C . . NT END=179654704;NT GT ./. 2 179654843 . C . . NT END=179655434;NT GT ./. 2 179655573 . C . . NT END=179656798;NT GT ./. 2 179656548 rs528285176 C T 26 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=TTN/NM_001256850.1/0;CC=c.1662+251G>A;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.1662+251G>A;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.1662+251G>A;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.1662+251G>A;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.1662+251G>A;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.1662+251G>A;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.1662+251G>A;VC=Intron;DM=TTN/Laminin_G_2;DM=TTN/Titin_Z GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:11:9:0:0:2,9:42,241:0.00,26.20:0.00,27.50:0.00,-1.30:0.00,1.00:0.00,1.00:0.00,0.97:60,60:12.5,43.0:0,0:0,0:35,14:115,136:8,10:-,NM_001267550.1(TTN) c.1662+251G>A:-,NOT_FOUND:-,NOT_FOUND 2 179656925 . C . . NT END=179658130;NT GT ./. 2 179658272 . C . . NT END=179659125;NT GT ./. 2 179659279 . C . . NT END=179659648;NT GT ./. 2 179659980 . C . . NT END=179664213;NT GT ./. 2 179664459 . C . . NT END=179664551;NT GT ./. 2 179664638 . C . . NT END=179665121;NT GT ./. 2 179664840 rs900772 T C 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.001198,C/0.9988;NP=1143;Gene=TTN/NM_001256850.1/0;CC=c.584-203A>G;VC=Intron;Gene=TTN/NM_001267550.2/0;CC=c.584-203A>G;VC=Intron;Gene=TTN/NM_133437.4/0;CC=c.584-203A>G;VC=Intron;Gene=TTN/NM_003319.4/0;CC=c.584-203A>G;VC=Intron;Gene=TTN/NM_133378.4/0;CC=c.584-203A>G;VC=Intron;Gene=TTN/NM_133432.3/0;CC=c.584-203A>G;VC=Intron;Gene=TTN/NM_133379.4/1;CC=c.584-203A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:7:0:0:17:539:62.00:27.14:34.86:1.00:1.00:1.00:60:39.9:0:0:89:62:35:NM_001267550.1(TTN) c.584-203A>G,NM_001267550.1(TTN) c.584-203A>G:1,1:NOT_FOUND,NOT_FOUND 2 179665410 . C . . NT END=179666864;NT GT ./. 2 179667069 . C . . NT END=179669278;NT GT ./. 2 179669370 . C . . NT END=179698899;NT GT ./. 2 179698945 rs16866554 G A 135 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.8648,A/0.1352;PC=1.000;Gene=CCDC141/NM_173648.3/1;CC=c.4548C>T;ProtCh=p.V1516=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:81:0:0:43,55:1441,1731:135.45,0.00:107.01,0.00:28.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,7.1:0,0:0,0:51,66:100,84:30,28:NM_173648.3(CCDC141) c.4548C>T (p.(=)),-:0.13,-:NOT_FOUND,- 2 179699168 . C . . NT END=179701620;NT GT ./. 2 179699384 rs62175451 A G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8928,G/0.1072;PC=0.001;Gene=CCDC141/NM_173648.3/1;CC=c.4326-217T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,G:9:0:0:0:5,4:146,105:0.00,9.71:0.00,0.00:0.00,9.71:0.00,0.85:0.00,0.00:0.00,0.85:60,60:4.6,34.0:0,0:0,0:72,95:79,55:34,7:-,NM_173648.3(CCDC141) c.4326-217T>C:-,0.14:-,NOT_FOUND 2 179702268 rs1032283 A G 308 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.01198,G/0.988;NP=3426;PC=0.995;Gene=CCDC141/NM_173648.3/1;CC=c.3678T>C;ProtCh=p.P1226=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:88:65:0:0:86,2:2684,32:308.25,1.19:175.92,0.00:132.34,1.19:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,60.0:0,0:0,0:61,60:89,90:35,55:NM_173648.3(CCDC141) c.3678T>C (p.(=)),NM_173648.3(CCDC141) c.3678T>C (p.(=)):0.99,0.99:0.988467,0.988467 2 179702472 . C . . NT END=179710352;NT GT ./. 2 179702577 rs397825220 A AGG 113 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.1144,AAGG/.,AGG/0.8856;DB;DBA=NA;PAF=A/0.1144,AGG/0.8856;DB;DBA=NA;PAF=A/0.1144,AGG/0.8856;NP=1975;Gene=CCDC141/NM_173648.3/1;CC=c.3475-108_3475-107dupCC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A,G,AGG:38:6:34:0:3,1,34:70,12,1010:0.00,0.29,112.65:0.00,-0.01,12.79:0.00,0.31,99.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.0,71.0,27.9:0,1,0:0,0,0:146,75,96:3,76,55:0,0,26:NM_173648.3(CCDC141) c.3475-107_3475-106insCC,NM_173648.3(CCDC141) c.3475-107_3475-106insCC:0.9,0.9:NOT_FOUND,NOT_FOUND 2 179702610 rs2078403 C T 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.3355,T/0.6645;Gene=CCDC141/NM_173648.3/1;CC=c.3475-139G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:1:0:0:14,14:400,464:0.00,44.71:0.00,1.69:0.00,43.02:0.00,1.00:0.00,0.67:0.00,1.00:60,60:8.4,43.2:0,0:0,0:102,108:46,43:27,15:-,NM_173648.3(CCDC141) c.3475-139G>A:-,0.68:-,NOT_FOUND 2 179710470 . C . . NT END=179714775;NT GT ./. 2 179714675 rs4894055 C T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.117,T/0.883;PC=0.604;Gene=CCDC141/NM_173648.3/1;CC=c.3357+101G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:268:30.61:30.61:0.00:1.00:1.00:0.00:60:46.1:0:0:64:86:37:NM_173648.3(CCDC141) c.3357+101G>A,NM_173648.3(CCDC141) c.3357+101G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 2 179714889 . C . . NT END=179718167;NT GT ./. 2 179718352 . C . . NT END=179720073;NT GT ./. 2 179719966 rs1872203 A T 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.6194,T/0.3806;PC=0.002;Gene=CCDC141/NM_173648.3/1;CC=c.3060+108T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:15:15:0:0:8,7:248,214:0.00,20.24:0.00,20.24:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:5.0,35.4:0,0:0,0:38,49:112,99:23,25:-,NM_173648.3(CCDC141) c.3060+108T>A:-,0.37:-,NOT_FOUND 2 179720269 . C . . NT END=179720983;NT GT ./. 2 179721125 . C . . NT END=179730493;NT GT ./. 2 179721264 rs72957386 C CCTCT 21 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.513,CCTCT/0.487;DB;DBA=NA;PAF=C/0.513,CCTCT/0.487;DB;DBA=NA;PAF=C/0.513,CCTCT/0.487;DB;DBA=NA;PAF=NA;NP=214;Gene=CCDC141/NM_173648.3/1;CC=c.2725-141_2725-140insAGAG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:C,CCTCT:13:0:7:0:6,7:181,212:0.00,20.64:0.00,0.00:0.00,20.64:0.00,0.99:0.00,0.00:0.00,0.99:60,70:8.7,1.6:0,0:0,0:112,45:39,105:35,11:-,NM_173648.3(CCDC141) c.2725-141_2725-140insAGAG:-,NOT_FOUND:-,NOT_FOUND 2 179730644 . C . . NT END=179732752;NT GT ./. 2 179732933 . C . . NT END=179733843;NT GT ./. 2 179732980 rs10165177 A G 201 nt VT=SNV;PN=A;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.1893,G/0.8107,T/.;PC=0.023;Gene=CCDC141/NM_173648.3/1;CC=c.2395-48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A,G,T:54:11:0:0:1,52,1:34,1788,11:0.00,201.32,0.21:0.00,30.35,0.00:0.00,170.96,0.21:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:34.0,48.7,86.0:1,0,0:0,0,0:45,112,123:106,38,26:0,22,0:NM_173648.3(CCDC141) c.2395-48T>C,NM_173648.3(CCDC141) c.2395-48T>C:0.88,0.88:0.857835,0.857835 2 179732997 rs10165253 A T 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.505,T/0.495;Gene=CCDC141/NM_173648.3/1;CC=c.2395-65T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:43:9:0:0:24,19:765,592:0.00,55.42:0.00,10.88:0.00,44.54:0.00,1.00:0.00,0.99:0.00,1.00:60,60:37.8,65.9:0,0:0,0:128,101:23,46:12,20:-,NM_173648.3(CCDC141) c.2395-65T>A:-,0.47:-,NOT_FOUND 2 179734033 . C . . NT END=179736153;NT GT ./. 2 179735946 rs1565287 A G 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.1154,G/0.8846;Gene=CCDC141/NM_173648.3/1;CC=c.2205+208T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:419:47.62:47.62:0.00:1.00:1.00:0.00:60:44.8:0:0:66:84:27:NM_173648.3(CCDC141) c.2205+208T>C,NM_173648.3(CCDC141) c.2205+208T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 2 179736006 rs6731864 T G 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8035,G/0.1965;PC=0.129;Gene=CCDC141/NM_173648.3/1;CC=c.2205+148A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:G,T:16:16:0:0:5,11:172,333:15.27,0.00:15.27,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:60,60:49.2,31.7:0,0:0,0:25,98:125,52:18,31:NM_173648.3(CCDC141) c.2205+148A>C,-:0.23,-:NOT_FOUND,- 2 179736280 . C . . NT END=179736859;NT GT ./. 2 179737040 . C . . NT END=179742690;NT GT ./. 2 179737144 rs12693170 C A 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2971,A/0.7029;Gene=CCDC141/NM_173648.3/1;CC=c.1900-105G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:0:0:0:18,11:559,338:56.10,0.00:0.00,0.00:56.10,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.4,3.5:0,0:0,0:103,120:46,30:26,13:NM_173648.3(CCDC141) c.1900-105G>T,-:0.71,-:NOT_FOUND,- 2 179742871 . C . . NT END=179749627;NT GT ./. 2 179749820 . C . . NT END=179751478;NT GT ./. 2 179751599 . C . . NT END=179753253;NT GT ./. 2 179751771 rs62177297 G A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.9323,A/0.06769;Gene=CCDC141/NM_173648.3/1;CC=c.1408-173C>T;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.1408-173C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,C,G:14:0:0:0:6,1,7:150,11,243:13.91,0.31,0.00:0.00,0.00,0.00:13.91,0.31,0.00:0.96,0.00,0.00:0.00,0.00,0.00:0.96,0.00,0.00:60,60,60:56.2,75.0,30.6:0,0,0:0,0,0:69,12,90:81,138,61:27,0,27:NM_173648.3(CCDC141) c.1408-173C>T,-:0.09,-:NOT_FOUND,- 2 179751817 rs4894060 T A 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.128,A/0.872;Gene=CCDC141/NM_173648.3/1;CC=c.1408-219A>T;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.1408-219A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:367:41.95:0.00:41.95:1.00:0.00:1.00:60:52.9:0:0:83:68:25:NM_173648.3(CCDC141) c.1408-219A>T,NM_173648.3(CCDC141) c.1408-219A>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 179752945 rs76280783 C T 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9694,T/0.03055;Gene=CCDC141/NM_173648.3/1;CC=c.1407+309G>A;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.1407+309G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:7:7:0:0:4,3:133,75:0.00,6.82:0.00,6.82:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:2.5,42.0:0,0:0,0:67,59:83,92:30,31:-,NM_173648.3(CCDC141) c.1407+309G>A:-,0.05:-,NOT_FOUND 2 179753245 rs7573293 C T 250 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.4836,T/0.5164;PC=0.164;Gene=CCDC141/NM_173648.3/1;CC=c.1407+9G>A;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.1407+9G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:59:0:0:67:2178:249.68:188.83:60.85:1.00:1.00:1.00:60:39.5:0:0:51:91:24:NM_173648.3(CCDC141) c.1407+9G>A,NM_173648.3(CCDC141) c.1407+9G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 2 179753396 . C . . NT END=179770055;NT GT ./. 2 179753549 rs1873164 G A 98 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.3782,A/0.6218;Gene=CCDC141/NM_173648.3/1;CC=c.1266-154C>T;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.1266-154C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:0:0:0:27:855:98.32:0.00:98.32:1.00:0.00:1.00:60:38.2:0:0:88:63:38:NM_173648.3(CCDC141) c.1266-154C>T,NM_173648.3(CCDC141) c.1266-154C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 2 179770229 . C . . NT END=179783439;NT GT ./. 2 179770340 rs114829390 A G 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9671,G/0.03295;Gene=CCDC141/NM_173648.3/1;CC=c.1093-112T>C;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.1093-112T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:2:0:0:14,18:463,576:0.00,56.63:0.00,4.94:0.00,51.69:0.00,1.00:0.00,0.84:0.00,1.00:60,60:5.2,50.3:0,0:0,0:122,96:28,54:11,31:-,NM_173648.3(CCDC141) c.1093-112T>C:-,0.05:-,NOT_FOUND 2 179783635 . C . . NT END=179809261;NT GT ./. 2 179783696 rs12467323 C A 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8413,A/0.1587;Gene=CCDC141/NM_173648.3/1;CC=c.898-62G>T;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.898-62G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:12:0:0:19,14:573,438:56.58,0.00:8.75,0.00:47.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,5.9:0,0:0,0:109,83:42,68:16,43:NM_173648.3(CCDC141) c.898-62G>T,-:0.19,-:NOT_FOUND,- 2 179809379 . C . . NT END=179825956;NT GT ./. 2 179809500 rs9677932 C T 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.02536,T/0.9746;Gene=CCDC141/NM_173648.3/1;CC=c.781-122G>A;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.781-122G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:332:38.82:0.00:38.82:1.00:0.00:1.00:60:49.2:0:0:104:46:33:NM_173648.3(CCDC141) c.781-122G>A,NM_173648.3(CCDC141) c.781-122G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 179825838 rs397801992 TG T 49 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=TG/0.742,T/0.258;DB;DBA=NA;PAF=TG/0.742,T/0.258;NP=89;PC=0.002;Gene=CCDC141/NM_173648.3/1;CC=c.780+118delC;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.780+118delC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:27:26:0:17:10,17:329,491:0.00,49.46:0.00,47.61:0.00,1.85:0.00,1.00:0.00,1.00:0.00,0.89:60,70:3.3,17.1:0,0:0,0:49,48:102,103:22,28:-,NM_173648.3(CCDC141) c.780+118delC:-,0.29:-,NOT_FOUND 2 179826211 . C . . NT END=179839783;NT GT ./. 2 179826241 rs6725028 A G 68 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.7418,G/0.2582;Gene=CCDC141/NM_173648.3/1;CC=c.527-31T>C;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.527-31T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:39:9:0:0:16,22,1:463,688,14:0.00,68.07,0.27:0.00,11.80,-0.03:0.00,56.27,0.30:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.9,35.9,26.0:0,0,0:0,0,0:101,95,117:43,55,34:35,23,0:-,NM_173648.3(CCDC141) c.527-31T>C:-,0.29:-,NOT_FOUND 2 179839833 rs10930846 A G 36 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.6755,G/0.3245;PC=0.007;Gene=CCDC141/NM_173648.3/1;CC=c.477T>C;ProtCh=p.S159=;VC=Silent;Gene=CCDC141/NM_001316745/0;CC=c.477T>C;ProtCh=p.S159=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:17:0:0:13,12:397,382:0.00,36.41:0.00,12.67:0.00,23.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,34.9:0,0:0,0:58,59:91,91:31,25:-,NM_173648.3(CCDC141) c.477T>C (p.(=)):-,0.35:-,NOT_FOUND 2 179839893 . C . . NT END=179843210;NT GT ./. 2 179843403 . C . . NT END=179912010;NT GT ./. 2 179843612 rs1847420 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4167,A/0.5833;PC=0.001;Gene=CCDC141/NM_173648.3/1;CC=c.226-210C>T;VC=Intron;Gene=CCDC141/NM_001316745/0;CC=c.226-210C>T;VC=Intron;DM=CCDC141/Spectrin;DM=CCDC141/Spectrin;DM=CCDC141/Spectrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:0:0:0:3,2:97,69:9.67,0.00:0.00,0.00:9.67,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:36.7,0.0:0,0:0,0:139,106:12,44:8,13:NM_173648.3(CCDC141) c.226-210C>T,-:0.55,-:NOT_FOUND,- 2 179912134 . C . . NT END=179914566;NT GT ./. 2 179914640 rs61397643 G A 107 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.8526,A/0.1474;PC=0.007;Gene=CCDC141/NM_173648.3/1;CC=c.29C>T;ProtCh=p.A10V;VC=Missense;Gene=CCDC141/NM_001316745/0;CC=c.29C>T;ProtCh=p.A10V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:65:0:0:35,54:1166,1717:107.40,0.00:64.39,0.00:43.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,5.5:0,0:0,0:68,69:83,72:35,33:NM_173648.3(CCDC141) c.29C>T (p.Ala10Val),-:0.13,-:NOT_FOUND,- 2 179914724 . G . . NT END=179974625;NT GT ./. 2 179974756 . C . . NT END=179977450;NT GT ./. 2 179977252 rs2289994 G A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8057,A/0.1943;Gene=SESTD1/NM_178123.4/1;CC=c.1961+199C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:13:13:0:0:7,6:229,185:22.34,0.00:22.34,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:36.0,1.7:0,0:0,0:14,30:137,119:14,11:NM_178123.4(SESTD1) c.1961+199C>T,-:0.16,-:NOT_FOUND,- 2 179977573 . C . . NT END=179979791;NT GT ./. 2 179979930 rs2289993 T C 137 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.8059,C/0.1941;PC=0.998;Gene=SESTD1/NM_178123.4/1;CC=c.1701A>G;ProtCh=p.Q567=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:70:37:0:0:41,1,28:1378,27,914:137.12,1.17,0.00:41.09,-0.08,0.00:96.03,1.25,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.3,116.0,9.9:0,0,0:0,0,0:65,76,77:84,75,67:38,0,35:NM_178123.4(SESTD1) c.1701A>G (p.(=)),-:0.16,-:0.187606,- 2 179979984 . C . . NT END=179981394;NT GT ./. 2 179980070 rs2044479 G A 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4235,A/0.5765;Gene=SESTD1/NM_178123.4/1;CC=c.1648-87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:6:0:0:11,15:349,463:32.47,0.00:7.82,0.00:24.65,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:46.6,28.5:0,0:0,0:93,124:57,26:42,19:NM_178123.4(SESTD1) c.1648-87C>T,-:0.53,-:NOT_FOUND,- 2 179981518 . C . . NT END=179982258;NT GT ./. 2 179982125 rs371856804 AAGAT A 15 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=AAGAT/0.5228,A/0.4772;DB;DBA=NA;PAF=AAGAT/0.5228,A/0.4772;NP=857;PC=0.074;Gene=SESTD1/NM_178123.4/1;CC=c.1524+130_1524+133delATCT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:AAGAT,A:15:14:0:5:10,5:316,167:0.00,14.94:0.00,11.64:0.00,3.30:0.00,0.89:0.00,0.99:0.00,0.56:60,60:3.5,4.2:0,0:0,0:61,47:90,104:44,35:-,NM_178123.4(SESTD1) c.1524+130_1524+133delATCT:-,0.41:-,NOT_FOUND 2 179982341 . C . . NT END=179986496;NT GT ./. 2 179986367 rs13420572 C T 54 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8281,T/0.1719;PC=0.007;Gene=SESTD1/NM_178123.4/1;CC=c.1442+130G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:8,16:247,531:0.00,54.12:0.00,54.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,38.9:0,0:0,0:63,66:88,84:23,20:-,NM_178123.4(SESTD1) c.1442+130G>A:-,0.14:-,NOT_FOUND 2 179986657 . C . . NT END=179988441;NT GT ./. 2 179988395 rs5836671 T TA 93 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.01957,TA/.,TAA/0.9784,TAAA/0.001997,TAAAA/.;NP=10;NP=11;NP=762;Gene=SESTD1/NM_178123.4/1;CC=c.1282+46dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:T,TA,D:31:35:31:1:3,27,1:84,970,32:0.00,92.91,2.10:0.00,84.37,1.04:0.00,8.54,1.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:42.0,9.3,0.0:0,4,0:0,0,0:143,55,11:7,95,139:4,24,0:-,NM_178123.4(SESTD1) c.1282+46_1282+47insT:-,NOT_FOUND:-,NOT_FOUND 2 179988557 . C . . NT END=179989090;NT GT ./. 2 179989039 rs2289992 G A 61 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5258,A/0.4742;Gene=SESTD1/NM_178123.4/1;CC=c.1167+52C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:32:0:0:20,14:610,399:60.50,0.00:45.42,0.00:15.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,2.9:0,0:0,0:61,35:89,116:41,33:NM_178123.4(SESTD1) c.1167+52C>T,-:0.41,-:0.466853,- 2 179989286 . C . . NT END=179997030;NT GT ./. 2 179997154 . C . . NT END=180008318;NT GT ./. 2 179997177 rs397819404 AT A 70 rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=AT/0.5252,A/0.4748;DB;DBA=NA;PAF=AT/0.5252,A/0.4748;NP=1878;PC=0.500;Gene=SESTD1/NM_178123.4/1;CC=c.850-25delA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:66:26:0:24:42,24:1324,772:0.00,69.88:0.00,12.48:0.00,57.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,7.4:0,0:0,0:89,81:54,69:35,30:-,NM_178123.4(SESTD1) c.850-25delA:-,0.41:-,0.474349 2 180008531 . C . . NT END=180011128;NT GT ./. 2 180011185 . C . . NT END=180014023;NT GT ./. 2 180014122 . C . . NT END=180016004;NT GT ./. 2 180016119 . C . . NT END=180036846;NT GT ./. 2 180036961 . C . . NT END=180041174;NT GT ./. 2 180041266 . C . . NT END=180047806;NT GT ./. 2 180047746 rs1446673 G C 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3642,C/0.6358;PC=0.003;Gene=SESTD1/NM_178123.4/1;CC=c.164+61C>G;VC=Intron;DM=SESTD1/CRAL_TRIO_2;DM=SESTD1/CRAL_TRIO_2;DM=SESTD1/CRAL_TRIO_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:270:30.82:30.82:0.00:1.00:1.00:0.00:60:47.9:0:0:54:96:15:NM_178123.4(SESTD1) c.164+61C>G,NM_178123.4(SESTD1) c.164+61C>G:0.63,0.63:NOT_FOUND,NOT_FOUND 2 180047908 rs6757681 T C 141 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.1404,C/0.8596;PC=0.996;Gene=SESTD1/NM_178123.4/1;CC=c.63A>G;ProtCh=p.K21=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:26:0:0:37:1236:141.24:61.63:79.61:1.00:1.00:1.00:60:36.9:0:0:84:53:36:NM_178123.4(SESTD1) c.63A>G (p.(=)),NM_178123.4(SESTD1) c.63A>G (p.(=)):0.83,0.83:0.791327,0.791327 2 180047916 . C . . NT END=180056513;NT GT ./. 2 180048071 rs12693176 T C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.364,C/0.636;Gene=SESTD1/NM_178123.4/1;CC=c.56-156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:211:23.96:0.00:23.96:1.00:0.00:1.00:60:62.2:0:0:128:22:3:NM_178123.4(SESTD1) c.56-156A>G,NM_178123.4(SESTD1) c.56-156A>G:0.63,0.63:NOT_FOUND,NOT_FOUND 2 180056341 rs12693178 G A 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.4431,A/0.5569;Gene=SESTD1/NM_178123.4/1;CC=c.55+173C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:255:29.31:29.31:0.00:1.00:1.00:0.00:60:54.8:0:0:35:113:32:NM_178123.4(SESTD1) c.55+173C>T,NM_178123.4(SESTD1) c.55+173C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 2 180056569 . T . . NT END=180307976;NT GT ./. 2 180265158 rs13007419 T C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.02536,C/0.9746;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,T:15:13:0:0:11,4:359,123:37.36,0.00:26.16,0.00:11.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,13.2:0,0:0,0:67,45:84,84:44,30:chr2 g.180265157T>C (intergenic),-:0.98,-:NOT_FOUND,- 2 180307879 rs5836680 TG T 57 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=TG/0.2879,T/0.7121;DB;DBA=NA;PAF=TG/0.2879,T/0.7121;NP=2203;PC=0.042;Gene=ZNF385B/NM_001113398.1/0;CC=c.*97delC;VC=3UTR;Gene=ZNF385B/NM_001282725.1/0;CC=c.*97delC;VC=3UTR;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.*97delC;VC=3UTR;Gene=ZNF385B/NM_152520.4/1;CC=c.*97delC;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:21:TG,T:19:18:0:18:1,18:26,502:0.00,57.06:0.00,53.61:0.00,3.45:0.00,1.00:0.00,1.00:0.00,0.96:60,70:68.0,16.8:0,0:0,0:128,64:4,86:0,38:NM_152520.4(ZNF385B) c.*92C[5],NM_152520.4(ZNF385B) c.*92C[5]:0.74,0.74:NOT_FOUND,NOT_FOUND 2 180308196 . C . . NT END=180309602;NT GT ./. 2 180308335 rs10171283 C G 76 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.269,G/0.731;PC=0.686;Gene=ZNF385B/NM_001113398.1/0;CC=c.892-140G>C;VC=Intron;Gene=ZNF385B/NM_001282725.1/0;CC=c.892-140G>C;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.970-140G>C;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.1198-140G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:0:0:0:21:662:76.18:0.00:76.18:1.00:0.00:1.00:60:44.5:0:0:117:34:13:NM_152520.4(ZNF385B) c.1198-140G>C,NM_152520.4(ZNF385B) c.1198-140G>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 180309705 . C . . NT END=180310276;NT GT ./. 2 180310042 rs3817351 G C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5327,C/0.4673;Gene=ZNF385B/NM_001113398.1/0;CC=c.789+235C>G;VC=Intron;Gene=ZNF385B/NM_001282725.1/0;CC=c.789+235C>G;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.867+235C>G;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.1095+235C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:C,G:10:8:0:0:5,5:171,170:16.48,0.00:17.08,0.00:-0.60,0.00:0.95,0.00:0.87,0.00:0.79,0.00:60,60:35.6,3.4:0,0:0,0:76,64:75,87:21,15:NM_152520.4(ZNF385B) c.1095+235C>G,-:0.44,-:NOT_FOUND,- 2 180310456 . C . . NT END=180311251;NT GT ./. 2 180310560 rs139227051 C T 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.9732,T/0.02676;PC=0.001;Gene=ZNF385B/NM_001113398.1/0;CC=c.611-105G>A;VC=Intron;Gene=ZNF385B/NM_001282725.1/0;CC=c.611-105G>A;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.689-105G>A;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.917-105G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:1:0:0:13,15:453,493:0.00,48.06:0.00,1.80:0.00,46.25:0.00,1.00:0.00,0.69:0.00,1.00:60,60:6.9,39.1:0,0:0,0:100,102:51,48:24,30:-,NM_152520.4(ZNF385B) c.917-105G>A:-,0.04:-,NOT_FOUND 2 180310961 rs1914496 C T 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.494,T/0.506;Gene=ZNF385B/NM_001113398.1/0;CC=c.610+291G>A;VC=Intron;Gene=ZNF385B/NM_001282725.1/0;CC=c.610+291G>A;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.688+291G>A;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.916+291G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:6:6:0:0:2,4:69,131:0.00,13.35:0.00,13.35:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,71.0:0,0:0,0:52,17:98,134:18,5:-,NM_152520.4(ZNF385B) c.916+291G>A:-,0.49:-,NOT_FOUND 2 180310987 rs1914497 T C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2322,C/0.7678;Gene=ZNF385B/NM_001113398.1/0;CC=c.610+265A>G;VC=Intron;Gene=ZNF385B/NM_001282725.1/0;CC=c.610+265A>G;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.688+265A>G;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.916+265A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:8:8:0:0:6,2:205,67:21.41,0.00:21.41,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:58.0,0.0:0,0:0,0:37,78:113,72:16,18:NM_152520.4(ZNF385B) c.916+265A>G,-:0.72,-:NOT_FOUND,- 2 180311498 . C . . NT END=180347998;NT GT ./. 2 180348162 . C . . NT END=180383254;NT GT ./. 2 180348245 rs2271759 T G 92 nt VT=SNV;PN=C;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.6406,G/0.3594;PC=0.988;Gene=ZNF385B/NM_001113398.1/0;CC=c.202-84A>C;VC=Intron;Gene=ZNF385B/NM_001282725.1/0;CC=c.202-84A>C;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.280-84A>C;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.508-84A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:66:19:0:0:30,36:970,1095:91.58,0.00:20.27,0.00:71.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,11.1:0,0:0,0:109,110:40,39:18,21:NM_152520.4(ZNF385B) c.508-84A>C,-:0.37,-:NOT_FOUND,- 2 180383366 . C . . NT END=180409553;NT GT ./. 2 180383498 rs4567894 C A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.232,A/0.768;Gene=ZNF385B/NM_001113398.1/0;CC=c.91-133G>T;VC=Intron;Gene=ZNF385B/NM_001282725.1/0;CC=c.91-133G>T;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.169-133G>T;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.397-133G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,C:10:0:0:0:9,1:264,13:29.27,0.00:0.00,0.00:29.27,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:30.8,0.0:0,0:0,0:100,92:50,59:12,0:NM_152520.4(ZNF385B) c.397-133G>T,NM_152520.4(ZNF385B) c.397-133G>T:0.79,0.79:NOT_FOUND,NOT_FOUND 2 180409697 . C . . NT END=180427125;NT GT ./. 2 180427316 . A . . NT END=180440842;NT GT ./. 2 180427409 rs3112931 G A 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.3235,A/0.6765;PC=0.664;Gene=ZNF385B/NM_001282725.1/0;CC=c.-54+13434C>T;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.26-17713C>T;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.254-17713C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:2:0:0:14,13:447,455:43.26,0.00:5.29,0.00:37.97,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:33.0,3.8:0,0:0,0:87,93:63,57:27,23:NM_152520.4(ZNF385B) c.254-17713C>T,-:0.68,-:NOT_FOUND,- 2 180440514 rs144298947 CTT C 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTT/0.8684,C/0.1316;NP=240;Gene=ZNF385B/NM_001282725.1/0;CC=c.-54+327_-54+328delAA;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.26-30820_26-30819delAA;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.254-30820_254-30819delAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:4:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:15.5:0:0:39:109:17:NM_152520.4(ZNF385B) c.254-30820_254-30819delAA,NM_152520.4(ZNF385B) c.254-30820_254-30819delAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 180440832 rs16866800 C T 205 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.8582,T/0.1418;Gene=ZNF385B/NM_001282725.1/0;CC=c.-54+11G>A;VC=Intron;Gene=ZNF385B/NR_104234.1/0;VC=NonCoding;Gene=ZNF385B/NM_001113397.1/0;CC=c.26-31136G>A;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.254-31136G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C,T:56:51:0:0:1,55:34,1806:0.00,204.65:0.00,145.55:0.00,59.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,45.7:0,0:0,0:4,65:147,86:0,31:NM_152520.4(ZNF385B) c.254-31136G>A,NM_152520.4(ZNF385B) c.254-31136G>A:0.14,0.14:NOT_FOUND,NOT_FOUND 2 180440995 . c . . NT END=180448701;NT GT ./. 2 180448704 . a . . NT END=180610439;NT GT ./. 2 180500061 rs10172379 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.606,C/0.394;PC=0.002;Gene=ZNF385B/NM_001113397.1/0;CC=c.26-90365A>G;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.254-90365A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:102.0:0:0:102:48:8:NM_152520.4(ZNF385B) c.254-90365A>G,NM_152520.4(ZNF385B) c.254-90365A>G:0.41,0.41:NOT_FOUND,NOT_FOUND 2 180500082 rs9750251 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.03734,C/0.9627;PC=0.001;Gene=ZNF385B/NM_001113397.1/0;CC=c.26-90386A>G;VC=Intron;Gene=ZNF385B/NM_152520.4/1;CC=c.254-90386A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:102.0:0:0:123:27:8:NM_152520.4(ZNF385B) c.254-90386A>G,NM_152520.4(ZNF385B) c.254-90386A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 180610770 . G . . NT END=180634229;NT GT ./. 2 180634483 . G . . NT END=180809855;NT GT ./. 2 180810180 rs6433817 C T 322 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.3934,T/0.6066;PC=0.002;Gene=CWC22/NM_020943.2/1;CC=c.2403G>A;ProtCh=p.A801=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:87:61:0:0:87:2805:321.90:183.65:138.25:1.00:1.00:1.00:60:58.5:0:0:66:83:39:NM_020943.2(CWC22) c.2403G>A (p.(=)),NM_020943.2(CWC22) c.2403G>A (p.(=)):0.62,0.62:0.679093,0.679093 2 180810264 rs6433818 A T 375 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.06869,T/0.9313;PC=0.998;Gene=CWC22/NM_020943.2/1;CC=c.2319T>A;ProtCh=p.S773R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:99:67:0:0:99:3280:375.02:208.77:166.25:1.00:1.00:1.00:60:57.4:0:0:75:75:33:NM_020943.2(CWC22) c.2319T>A (p.Ser773Arg),NM_020943.2(CWC22) c.2319T>A (p.Ser773Arg):0.94,0.94:0.896459,0.896459 2 180810443 . C . . NT END=180815238;NT GT ./. 2 180815460 . C . . NT END=180815551;NT GT ./. 2 180815528 rs2304858 A T 147 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.3916,T/0.6084;Gene=CWC22/NM_020943.2/1;CC=c.1919+24T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:24:0:0:40:1281:147.13:81.72:65.42:1.00:1.00:1.00:60:36.9:0:0:60:90:37:NM_020943.2(CWC22) c.1919+24T>A,NM_020943.2(CWC22) c.1919+24T>A:0.62,0.62:0.67873,0.67873 2 180815654 . C . . NT END=180817197;NT GT ./. 2 180817326 . C . . NT END=180818931;NT GT ./. 2 180819085 . C . . NT END=180819683;NT GT ./. 2 180819762 . C . . NT END=180823748;NT GT ./. 2 180823810 . C . . NT END=180829273;NT GT ./. 2 180829356 . C . . NT END=180830604;NT GT ./. 2 180830710 . C . . NT END=180835227;NT GT ./. 2 180830958 rs6733426 A G 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.08347,G/0.9165;Gene=CWC22/NM_020943.2/1;CC=c.1211-249T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:232:26.54:0.00:26.54:1.00:0.00:1.00:60:41.1:0:0:107:44:27:NM_020943.2(CWC22) c.1211-249T>C,NM_020943.2(CWC22) c.1211-249T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 180835291 . C . . NT END=180835376;NT GT ./. 2 180835584 . C . . NT END=180835667;NT GT ./. 2 180835589 rs4894140 A G 150 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.004193,C/.,G/0.9958;NP=3459;PC=0.994;Gene=CWC22/NM_020943.2/1;CC=c.941-6T>C;VC=Intron;DM=CWC22/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:24:0:0:42:1298:149.74:74.75:74.99:1.00:1.00:1.00:60:43.0:0:0:96:51:30:NM_020943.2(CWC22) c.941-6T>C,NM_020943.2(CWC22) c.941-6T>C:1,1:0.995663,0.995663 2 180835792 rs3768837 T A 137 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.1779,A/0.8221,C/.;PC=1.000;Gene=CWC22/NM_020943.2/1;CC=c.816A>T;ProtCh=p.V272=;VC=Silent;DM=CWC22/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:17:0:0:38:1195:137.50:45.92:91.57:1.00:1.00:1.00:60:35.8:0:0:86:65:30:NM_020943.2(CWC22) c.816A>T (p.(=)),NM_020943.2(CWC22) c.816A>T (p.(=)):0.83,0.83:0.823708,0.823708 2 180835804 . C . . NT END=180837919;NT GT ./. 2 180835992 rs3768839 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1649,A/0.8351;Gene=CWC22/NM_020943.2/1;CC=c.805-189C>T;VC=Intron;DM=CWC22/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:183:21.91:0.00:21.91:1.00:0.00:1.00:60:41.2:0:0:98:52:26:NM_020943.2(CWC22) c.805-189C>T,NM_020943.2(CWC22) c.805-189C>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 180837722 rs6433820 T C 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.07588,C/0.9241;Gene=CWC22/NM_020943.2/1;CC=c.804+198A>G;VC=Intron;DM=CWC22/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:365:41.70:41.70:0.00:1.00:1.00:0.00:60:73.9:0:0:61:90:40:NM_020943.2(CWC22) c.804+198A>G,NM_020943.2(CWC22) c.804+198A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 180837806 rs6433821 T A 87 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.07628,A/0.9237;Gene=CWC22/NM_020943.2/1;CC=c.804+114A>T;VC=Intron;DM=CWC22/MIF4G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:25:0:0:25:748:86.65:86.65:0.00:1.00:1.00:0.00:60:50.5:0:0:44:107:33:NM_020943.2(CWC22) c.804+114A>T,NM_020943.2(CWC22) c.804+114A>T:0.94,0.94:NOT_FOUND,NOT_FOUND 2 180837974 . C . . NT END=180838360;NT GT ./. 2 180838530 . C . . NT END=180842916;NT GT ./. 2 180843046 . C . . NT END=180846478;NT GT ./. 2 180843126 rs2367990 C T 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.08007,T/0.9199;Gene=CWC22/NM_020943.2/1;CC=c.453-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:4:0:0:18:565:65.06:7.60:57.45:1.00:1.00:1.00:60:43.0:0:0:109:40:32:NM_020943.2(CWC22) c.453-81G>A,NM_020943.2(CWC22) c.453-81G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 180846725 . c . . NT END=180851421;NT GT ./. 2 180846743 rs3738943 G T 162 nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.1677,T/0.8323;Gene=CWC22/NM_020943.2/1;CC=c.207-19C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A,G,T:47:12:0:0:1,1,45:10,14,1424:0.18,0.00,161.65:0.00,0.00,27.43:0.18,0.00,134.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.0,34.0,45.3:0,0,0:0,0,0:22,22,106:129,128,45:0,0,27:NM_020943.2(CWC22) c.207-19C>A,NM_020943.2(CWC22) c.207-19C>A:0.83,0.83:0.850874,0.850874 2 180851533 . C . . NT END=180853303;NT GT ./. 2 180853372 . C . . NT END=180858041;NT GT ./. 2 180858069 . T . . NT END=181846769;NT GT ./. 2 181502974 rs55703652 C CTG 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;NP=98;PC=0.068;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,CTG,D:7:7:3:1:3,3,1:93,94,33:0.00,9.00,2.73:0.00,7.66,2.83:0.00,1.34,-0.10:0.00,0.69,0.00:0.00,0.69,0.00:0.00,0.89,0.00:60,60,60:19.7,71.0,0.0:0,0,0:0,0,0:35,28,12:32,123,139:29,10,0:-,chr2 g.181502974_181502975insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 181737422 rs80233739 C CT 17 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5711,CT/0.4289;NP=263;PC=0.009;Gene=SCHLAP1/NR_104319.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104320.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104321.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104322.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104323.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104324.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104325.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,CT:6:6:5:0:1,5:24,155:0.00,16.71:0.00,16.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:105.0,9.2:1,0:0,0:15,88:92,51:0,45:-,chr2 g.181737422_181737423insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 181738180 rs138729571 T TGCGCCGCGCTGGAGCA 73 nt VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.1993,TGCGCCGCGCTGGAGCA/0.8007;NP=18;NP=2;PC=0.081;Gene=SCHLAP1/NR_104319.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104320.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104321.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104322.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104323.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104324.1/0;VC=NonCoding;Gene=SCHLAP1/NR_104325.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TGCGCCGCGCTGGAGCA:47:20:23:0:24,23:805,762:0.00,73.04:0.00,9.57:0.00,63.47:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.5,0.5:0,0:0,0:120,68:20,83:15,26:-,chr2 g.181738180_181738181insGCGCCGCGCTGGAGCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 181806925 rs377302526 AGTGTGTGTGT A 7 sb,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:AGTGTGTGTGT,A:6:5:0:4:3,3:104,109:0.00,7.07:0.00,8.33:0.00,-1.26:0.00,0.69:0.00,0.93:0.00,0.93:60,60:10.7,52.7:0,1:0,0:112,30:39,115:6,16:-,chr2 g.181806926_181806935delGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 181827303 rs6725437 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=194;PC=0.229 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:9:6:0:0:3,6:99,193:8.84,0.00:6.35,0.00:2.50,0.00:0.96,0.00:0.89,0.00:0.92,0.00:60,70:33.0,18.7:0,4:0,0:104,49:30,65:17,38:chr2 g.181827302G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 181846964 . G . . NT END=181848769;NT GT ./. 2 181848821 . G . . NT END=181922419;NT GT ./. 2 181922553 . G . . NT END=181925391;NT GT ./. 2 181925540 . G . . NT END=181927517;NT GT ./. 2 181925588 rs71029902 CTTTTTTTTT C 17 idl,nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=CTTTTTTTTT/0.05072,C/0.9493;DB;DBA=NA;PAF=CTTTTTTTTT/0.05072,C/0.9493;PC=0.001;Gene=UBE2E3/NM_001278555.1/0;CC=c.526+68_526+76delTTTTTTTTT;VC=Intron;Gene=UBE2E3/NM_182678.2/1;CC=c.526+68_526+76delTTTTTTTTT;VC=Intron;Gene=UBE2E3/NM_006357.3/0;CC=c.526+68_526+76delTTTTTTTTT;VC=Intron;Gene=UBE2E3/NM_001278554.1/0;CC=c.526+68_526+76delTTTTTTTTT;VC=Intron;DM=UBE2E3/UQ_con;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:CTTTTTTTTT,C:26:16:0:16:19,7:519,408:0.00,17.08:0.00,3.49:0.00,13.59:0.00,0.95:0.00,0.95:0.00,0.99:60,60:13.6,70.3:0,7:0,0:131,69:17,73:13,27:-,NM_006357.2(UBE2E3) c.526+50_526+58delTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 2 181927616 . T . . NT END=182322381;NT GT ./. 2 182015719 rs71405446 AAC A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=184;Gene=LOC101927156/NR_130784.1/0;VC=NonCoding;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:AAC,A:7:5:0:3:4,3:132,100:0.00,9.36:0.00,3.09:0.00,6.26:0.00,0.69:0.00,0.93:0.00,0.69:60,60:13.5,7.3:0,0:0,0:85,73:65,78:30,11:-,chr2 g.182015720_182015721delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 182322579 . G . . NT END=182322922;NT GT ./. 2 182323045 . G . . NT END=182339686;NT GT ./. 2 182339794 . G . . NT END=182339885;NT GT ./. 2 182340016 . G . . NT END=182343483;NT GT ./. 2 182343552 . G . . NT END=182344863;NT GT ./. 2 182344846 rs397786860 G GT 50 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.2969,GT/.,GTC/0.001398,GTT/0.6905,GTTT/0.01118;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2516;Gene=ITGA4/NM_000885.4/1;CC=c.625-8dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:30:31:18:1:13,16,1:452,576,33:0.00,49.90,2.09:0.00,44.20,0.98:0.00,5.70,1.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.95,0.00:60,60,60:8.6,9.9,0.0:0,2,0:0,0,0:58,59,18:93,90,83:36,30,0:-,NM_000885.4(ITGA4) c.625-18_625-17insT:-,NOT_FOUND:-,NOT_FOUND 2 182344994 . G . . NT END=182346324;NT GT ./. 2 182346411 . G . . NT END=182347086;NT GT ./. 2 182346954 rs155098 C T 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3127,T/0.6873;Gene=ITGA4/NM_000885.4/1;CC=c.841-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:12:12:0:0:6,6:195,194:0.00,18.65:0.00,18.65:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:11.7,43.8:0,0:0,0:26,70:123,81:12,7:-,NM_000885.4(ITGA4) c.841-133C>T:-,0.72:-,NOT_FOUND 2 182347150 . G . . NT END=182347240;NT GT ./. 2 182347379 . G . . NT END=182350607;NT GT ./. 2 182350447 rs155102 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4505,G/0.5495;PC=1.000;Gene=ITGA4/NM_000885.4/1;CC=c.1042-161A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:42.8:0:0:41:109:37:NM_000885.4(ITGA4) c.1042-161A>G,NM_000885.4(ITGA4) c.1042-161A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 2 182350720 . G . . NT END=182358051;NT GT ./. 2 182350743 rs155103 A G 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3059,G/0.6941;PC=0.001;Gene=ITGA4/NM_000885.4/1;CC=c.1153+24A>G;VC=Intron;DM=ITGA4/FG-GAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,G:10:3:0:0:5,5:116,136:0.00,12.98:0.00,1.54:0.00,11.45:0.00,0.95:0.00,0.89:0.00,0.95:60,60:16.8,39.4:0,0:0,0:91,103:60,48:24,28:-,NM_000885.4(ITGA4) c.1153+24A>G:-,0.72:-,0.763542 2 182358147 . G . . NT END=182359448;NT GT ./. 2 182359540 . G . . NT END=182360097;NT GT ./. 2 182359613 rs165419 G A 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.02796,A/0.972;Gene=ITGA4/NM_000885.4/1;CC=c.1339+74G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:294:33.69:0.00:33.69:1.00:0.00:1.00:60:50.8:0:0:79:70:29:NM_000885.4(ITGA4) c.1339+74G>A,NM_000885.4(ITGA4) c.1339+74G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 182359712 rs189668801 G C,T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9982,T/0.001797;NP=8;PC=0.111 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:40:C,T:6:1:0:0:2,4:43,126:4.29,13.80:3.00,0.00:1.29,13.80:0.00,0.93:0.00,0.78:0.00,0.99:60,60:149.5,40.0:0,0:0,0:96,79:48,70:52,24:NM_000885.4(ITGA4) c.1339+173G>C,NM_000885.4(ITGA4) c.1339+173G>T:NOT_FOUND,0.0005:NOT_FOUND,NOT_FOUND 2 182360144 . G . . NT END=182360509;NT GT ./. 2 182360665 . G . . NT END=182363349;NT GT ./. 2 182363505 . G . . NT END=182363598;NT GT ./. 2 182363613 rs1349196 T A 118 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.03435,A/0.9657;PC=0.001;Gene=ITGA4/NM_000885.4/1;CC=c.1695+109T>A;VC=Intron;DM=ITGA4/Integrin_alpha2;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:17:0:0:32:1028:118.05:49.38:68.67:1.00:1.00:1.00:60:34.2:0:0:72:73:28:NM_000885.4(ITGA4) c.1695+109T>A,NM_000885.4(ITGA4) c.1695+109T>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 182363656 . G . . NT END=182374384;NT GT ./. 2 182374179 rs2368211 T C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.02636,C/0.9736;Gene=ITGA4/NM_000885.4/1;CC=c.1696-206T>C;VC=Intron;DM=ITGA4/Integrin_alpha2;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:188:21.65:21.65:0.00:1.00:1.00:0.00:60:58.0:0:0:33:117:11:NM_000885.4(ITGA4) c.1696-206T>C,NM_000885.4(ITGA4) c.1696-206T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 182374534 rs1143674 A G 148 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.3385,C/.,G/0.6615;PC=1.000;Gene=ITGA4/NM_000885.4/1;CC=c.1845A>G;ProtCh=p.T615=;VC=Silent;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:12:0:0:42:1276:147.56:25.42:122.13:1.00:1.00:1.00:60:41.7:0:0:108:39:23:NM_000885.4(ITGA4) c.1845A>G (p.(=)),NM_000885.4(ITGA4) c.1845A>G (p.(=)):0.59,0.59:0.600461,0.600461 2 182374535 . G . . NT END=182376425;NT GT ./. 2 182376503 . G . . NT END=182386917;NT GT ./. 2 182376546 rs1466109 T G 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.02636,G/0.9736;Gene=ITGA4/NM_000885.4/1;CC=c.1922+44T>G;VC=Intron;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:2:0:0:8:250:28.81:5.82:23.00:1.00:1.00:1.00:60:31.2:0:0:107:42:26:NM_000885.4(ITGA4) c.1922+44T>G,NM_000885.4(ITGA4) c.1922+44T>G:0.97,0.97:0.976203,0.976203 2 182387069 . G . . NT END=182388163;NT GT ./. 2 182387133 rs7602504 A G 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3387,G/0.6613;Gene=ITGA4/NM_000885.4/1;CC=c.2073+65A>G;VC=Intron;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:G,T:23:5:0:0:22,1:758,17:85.87,0.86:12.12,0.00:73.75,0.86:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,17.0:0,0:0,0:91,146:55,4:24,0:NM_000885.4(ITGA4) c.2073+65A>G,NM_000885.4(ITGA4) c.2073+65A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 182388260 . G . . NT END=182388897;NT GT ./. 2 182388978 . G . . NT END=182389928;NT GT ./. 2 182390019 . G . . NT END=182392023;NT GT ./. 2 182392115 . G . . NT END=182394267;NT GT ./. 2 182392143 rs56095368 G C 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8377,C/0.1623;PC=0.119;Gene=ITGA4/NM_000885.4/1;CC=c.2430+29G>C;VC=Intron;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:10:0:0:13,8:415,264:41.63,0.00:9.87,0.00:31.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,28.2:0,0:0,0:106,107:44,42:18,23:NM_000885.4(ITGA4) c.2430+29G>C,-:0.22,-:0.250205,- 2 182394376 . G . . NT END=182395250;NT GT ./. 2 182394954 rs6707704 A G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3532,G/0.6468;Gene=ITGA4/NM_000885.4/1;CC=c.2539-297A>G;VC=Intron;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:7:7:0:0:2,5:70,150:0.00,15.56:0.00,15.56:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:9.5,48.0:0,0:0,0:47,55:104,96:7,55:-,NM_000885.4(ITGA4) c.2539-297A>G:-,0.56:-,NOT_FOUND 2 182395345 rs1143676 G A 139 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.2095,A/0.7905;Gene=ITGA4/NM_000885.4/1;CC=c.2633G>A;ProtCh=p.R878Q;VC=Missense;DM=ITGA4/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:42:0:0:41,39:1430,1184:138.53,0.00:47.16,0.00:91.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,1.8:0,0:0,0:61,77:85,73:35,40:NM_000885.4(ITGA4) c.2633G>A (p.Arg878Gln),-:0.74,-:0.701595,- 2 182395377 . G . . NT END=182396383;NT GT ./. 2 182396504 . G . . NT END=182398998;NT GT ./. 2 182399097 rs7562325 T C 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.3431,C/0.6569,G/.;PC=0.717;Gene=ITGA4/NM_000885.4/1;CC=c.2883T>C;ProtCh=p.H961=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:23:0:0:19,17:638,544:62.08,0.00:27.08,0.00:35.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,8.6:0,0:0,0:110,88:35,62:24,26:NM_000885.4(ITGA4) c.2883T>C (p.(=)),-:0.59,-:0.60382,- 2 182399098 . G . . NT END=182399542;NT GT ./. 2 182399497 rs5836796 A ATT 20 idl,nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3954,AC/0.000599,AT/0.05751,ATT/0.5347,ATTT/0.01098;DB;DBA=NA;PAF=A/0.3954,T/0.0007987;DB;DBA=NA;PAF=A/0.3954,ATT/0.5347;DB;DBA=NA;PAF=A/0.3954,ATT/0.5347;NP=351;NP=8;PC=0.001;Gene=ITGA4/NM_000885.4/1;CC=c.2884-36_2884-35dupTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,ATT,D:17:15:9:2:8,7,2:231,269,68:0.00,20.33,5.42:0.00,16.01,2.69:0.00,4.32,2.73:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:18.1,69.6,0.0:1,2,0:0,0,0:44,39,85:106,110,65:22,12,11:-,NM_000885.4(ITGA4) c.2884-46_2884-45insTT:-,NOT_FOUND:-,NOT_FOUND 2 182399638 rs2124443 A G 97 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.002596,G/0.9974;NP=3471;PC=0.001;Gene=ITGA4/NM_000885.4/1;CC=c.2979A>G;ProtCh=p.L993=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:13:0:0:26:846:96.92:29.08:67.84:1.00:1.00:1.00:60:43.7:0:0:99:51:29:NM_000885.4(ITGA4) c.=,NM_000885.4(ITGA4) c.=:1,1:0.998737,0.998737 2 182399663 . G . . NT END=182400158;NT GT ./. 2 182399685 rs41265949 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8355,T/0.1645;Gene=ITGA4/NM_000885.4/1;CC=c.3003+23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:6:0:0:12,11:405,352:0.00,33.53:0.00,7.28:0.00,26.25:0.00,1.00:0.00,0.97:0.00,1.00:60,60:32.3,64.7:0,0:0,0:88,105:62,46:38,20:-,NM_000885.4(ITGA4) c.3003+23C>T:-,0.21:-,0.251397 2 182400255 . G . . NT END=182402910;NT GT ./. 2 182402790 rs6747500 G A 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2324,A/0.7676;Gene=ITGA4/NM_000885.4/1;CC=c.*2536G>A;VC=3UTR;Gene=CERKL/NM_001030311.2/1;CC=c.*121C>T;VC=3UTR;Gene=CERKL/NM_001030312.2/0;CC=c.*121C>T;VC=3UTR;Gene=CERKL/NM_001030313.2/0;CC=c.*121C>T;VC=3UTR;Gene=CERKL/NM_001160277.1/0;CC=c.*121C>T;VC=3UTR;Gene=CERKL/NM_201548.4/0;CC=c.*121C>T;VC=3UTR;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:A,G:13:13:0:0:8,5:262,148:26.26,0.00:26.26,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.4,0.0:0,0:0,0:44,86:106,65:41,7:NM_001030311.2(CERKL) c.*121C>T,-:0.73,-:NOT_FOUND,- 2 182402972 . C . . NT END=182403818;NT GT ./. 2 182403792 rs57234957 A AT 143 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.008786,AT/0.9912,ATATCTGGTTGACAT/.;NP=3475;Gene=CERKL/NM_001030311.2/1;CC=c.1616+26_1616+27insA;VC=Intron;Gene=CERKL/NM_001030312.2/0;CC=c.1199+26_1199+27insA;VC=Intron;Gene=CERKL/NM_001030313.2/0;CC=c.1331+26_1331+27insA;VC=Intron;Gene=CERKL/NM_001160277.1/0;CC=c.1484+26_1484+27insA;VC=Intron;Gene=CERKL/NM_201548.4/0;CC=c.1538+26_1538+27insA;VC=Intron;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:AT:39:30:39:0:39:1240:142.58:96.67:45.91:1.00:1.00:1.00:60:32.4:0:0:42:106:27:NM_001030311.2(CERKL) c.1616+26_1616+27insA,NM_001030311.2(CERKL) c.1616+26_1616+27insA:0.99,0.99:NOT_FOUND,NOT_FOUND 2 182403851 rs10180793 G A 180 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.008786,A/0.9912;NP=3112;PC=1.000;Gene=CERKL/NM_001030311.2/1;CC=c.1584C>T;ProtCh=p.D528=;VC=Silent;Gene=CERKL/NM_001030312.2/0;CC=c.1167C>T;ProtCh=p.D389=;VC=Silent;Gene=CERKL/NM_001030313.2/0;CC=c.1299C>T;ProtCh=p.D433=;VC=Silent;Gene=CERKL/NM_001160277.1/0;CC=c.1452C>T;ProtCh=p.D484=;VC=Silent;Gene=CERKL/NM_201548.4/0;CC=c.1506C>T;ProtCh=p.D502=;VC=Silent;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:A:50:31:0:0:50:1563:180.06:85.51:94.55:1.00:1.00:1.00:70:35.9:0:0:85:63:29:NM_001030311.2(CERKL) c.1584C>T (p.(=)),NM_001030311.2(CERKL) c.1584C>T (p.(=)):0.99,0.99:0.993234,0.993234 2 182403992 . C . . NT END=182409426;NT GT ./. 2 182409524 . C . . NT END=182412344;NT GT ./. 2 182412454 . C . . NT END=182412548;NT GT ./. 2 182412575 . C . . NT END=182413271;NT GT ./. 2 182412633 rs58144427 G GACACACACACACAC 18 idl,nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.093;Gene=CERKL/NM_001030311.2/1;CC=c.1212-60_1212-59insGTGTGTGTGTGTGT;VC=Intron;Gene=CERKL/NM_001030312.2/0;CC=c.795-60_795-59insGTGTGTGTGTGTGT;VC=Intron;Gene=CERKL/NM_001030313.2/0;CC=c.927-60_927-59insGTGTGTGTGTGTGT;VC=Intron;Gene=CERKL/NM_001160277.1/0;CC=c.1080-60_1080-59insGTGTGTGTGTGTGT;VC=Intron;Gene=CERKL/NM_201548.4/0;CC=c.1134-60_1134-59insGTGTGTGTGTGTGT;VC=Intron;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,C,G,GACACACACACACAC:55:25:9:0:1,4,43,7:9,125,1363,295:-0.21,8.45,0.00,17.63:-0.10,1.00,0.00,5.19:-0.10,7.45,0.00,12.43:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.99:60,60,60,60:104.0,52.8,5.5,1.7:0,0,0,2:0,0,0,0:135,72,104,70:10,45,42,81:0,40,17,16:-,NM_001030311.2(CERKL) c.1212-60_1212-59insGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 182412723 rs77584054 C CGT 20 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.1793,CAT/0.000599,CGT/0.8201;DB;DBA=NA;PAF=NA;NP=783;Gene=CERKL/NM_001030311.2/1;CC=c.1212-151_1212-150dupAC;VC=Intron;Gene=CERKL/NM_001030312.2/0;CC=c.795-151_795-150dupAC;VC=Intron;Gene=CERKL/NM_001030313.2/0;CC=c.927-151_927-150dupAC;VC=Intron;Gene=CERKL/NM_001160277.1/0;CC=c.1080-151_1080-150dupAC;VC=Intron;Gene=CERKL/NM_201548.4/0;CC=c.1134-151_1134-150dupAC;VC=Intron;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CGT:22:0:7:0:14,1,7:399,13,220:0.00,0.27,19.54:0.00,0.00,0.00:0.00,0.27,19.54:0.00,0.00,0.97:0.00,0.00,0.00:0.00,0.00,0.97:60,60,60:9.5,89.0,16.1:0,1,0:0,0,0:103,15,117:47,136,26:27,0,24:-,NM_001030311.2(CERKL) c.1212-150_1212-149insAC:-,0.78:-,NOT_FOUND 2 182413259 rs12997453 A G 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.3516,G/0.6484;Gene=CERKL/NM_001030311.2/1;CC=c.1211+13T>C;VC=Intron;Gene=CERKL/NM_001030312.2/0;CC=c.794+13T>C;VC=Intron;Gene=CERKL/NM_001030313.2/0;CC=c.926+13T>C;VC=Intron;Gene=CERKL/NM_001160277.1/0;CC=c.1079+13T>C;VC=Intron;Gene=CERKL/NM_201548.4/0;CC=c.1133+13T>C;VC=Intron;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:40:0:0:22,25:736,732:0.00,70.97:0.00,65.00:0.00,5.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,40.2:0,0:0,0:46,47:103,104:14,34:-,NM_001030311.2(CERKL) c.1211+13T>C:-,0.58:-,0.593125 2 182413332 . C . . NT END=182413406;NT GT ./. 2 182413585 . C . . NT END=182414360;NT GT ./. 2 182413602 rs13003064 A T 83 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.352,T/0.648;Gene=CERKL/NM_001030311.2/1;CC=c.974-18T>A;VC=Intron;Gene=CERKL/NM_001030312.2/0;CC=c.557-18T>A;VC=Intron;Gene=CERKL/NM_001030313.2/0;CC=c.689-18T>A;VC=Intron;Gene=CERKL/NM_001160277.1/0;CC=c.842-18T>A;VC=Intron;Gene=CERKL/NM_201548.4/0;CC=c.896-18T>A;VC=Intron;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding;DM=CERKL/DAGK_cat GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:62:21:0:0:35,27:1103,882:0.00,82.66:0.00,22.45:0.00,60.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,35.3:0,0:0,0:91,112:53,30:40,23:-,NM_001030311.2(CERKL) c.974-18T>A:-,0.58:-,0.593111 2 182414436 . C . . NT END=182423292;NT GT ./. 2 182423436 . C . . NT END=182430159;NT GT ./. 2 182430120 rs7604902 C A 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7516,A/0.2484,T/.;PC=0.001;Gene=CERKL/NM_001030311.2/1;CC=c.755+40G>T;VC=Intron;Gene=CERKL/NM_001030312.2/0;CC=c.482-15685G>T;VC=Intron;Gene=CERKL/NM_001030313.2/0;CC=c.613+8360G>T;VC=Intron;Gene=CERKL/NM_001160277.1/0;CC=c.623+40G>T;VC=Intron;Gene=CERKL/NM_201548.4/0;CC=c.677+665G>T;VC=Intron;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding;DM=CERKL/DAGK_cat GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:18:0:0:8,11:266,352:24.81,0.00:18.36,0.00:6.45,0.00:0.99,0.00:1.00,0.00:0.95,0.00:60,60:33.2,2.3:0,0:0,0:65,46:85,105:37,18:NM_001030311.2(CERKL) c.755+40G>T,-:0.24,-:0.242211,- 2 182430238 . C . . NT END=182430784;NT GT ./. 2 182430849 . C . . NT END=182438479;NT GT ./. 2 182438612 . C . . NT END=182468563;NT GT ./. 2 182438716 rs10427195 A G 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.5879,G/0.4121;Gene=CERKL/NM_001030311.2/1;CC=c.482-105T>C;VC=Intron;Gene=CERKL/NM_001030312.2/0;CC=c.482-24281T>C;VC=Intron;Gene=CERKL/NM_001030313.2/0;CC=c.482-105T>C;VC=Intron;Gene=CERKL/NM_001160277.1/0;CC=c.482-7868T>C;VC=Intron;Gene=CERKL/NM_201548.4/0;CC=c.482-105T>C;VC=Intron;Gene=CERKL/NR_027689.1/0;VC=NonCoding;Gene=CERKL/NR_027690.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:8:0:0:10,14:325,476:0.00,47.20:0.00,11.59:0.00,35.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,41.0:0,0:0,0:130,113:20,35:17,29:-,NM_001030311.2(CERKL) c.482-105T>C:-,0.43:-,NOT_FOUND 2 182468807 . C . . NT END=182521495;NT GT ./. 2 182521734 . G . . NT END=182542516;NT GT ./. 2 182543588 . G . . NT END=182756793;NT GT ./. 2 182756568 rs112503689 G GC 41 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=4;PC=0.491;Gene=SSFA2/NM_001287505.1/0;CC=c.-225dupC;VC=5UTR;Gene=SSFA2/NM_001130445.2/1;CC=c.-225dupC;VC=5UTR;Gene=SSFA2/NM_001287503.1/0;CC=c.-225dupC;VC=5UTR;Gene=SSFA2/NM_001287504.1/0;CC=c.-634dupC;VC=5UTR;Gene=SSFA2/NM_006751.6/0;CC=c.-225dupC;VC=5UTR;Gene=SSFA2/NR_109843.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:GC:12:12:12:0:12:355:41.21:41.21:0.00:1.00:1.00:0.00:60:35.1:0:0:31:116:11:NM_001130445.1(SSFA2) c.-225dupC,NM_001130445.1(SSFA2) c.-225dupC:0.98,0.98:NOT_FOUND,NOT_FOUND 2 182757005 . G . . NT END=182757341;NT GT ./. 2 182757388 . G . . NT END=182760756;NT GT ./. 2 182760807 . G . . NT END=182761634;NT GT ./. 2 182761692 . G . . NT END=182763606;NT GT ./. 2 182763647 . G . . NT END=182763740;NT GT ./. 2 182763840 . G . . NT END=182765422;NT GT ./. 2 182765632 . G . . NT END=182766492;NT GT ./. 2 182767194 . G . . NT END=182774625;NT GT ./. 2 182774699 . G . . NT END=182778571;NT GT ./. 2 182778661 . G . . NT END=182779942;NT GT ./. 2 182778704 rs62192080 T G 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.9012,G/0.09884;Gene=SSFA2/NM_001130445.2/1;CC=c.1575+44T>G;VC=Intron;Gene=SSFA2/NM_001287503.1/0;CC=c.1575+44T>G;VC=Intron;Gene=SSFA2/NM_001287504.1/0;CC=c.1116+44T>G;VC=Intron;Gene=SSFA2/NM_006751.6/0;CC=c.1575+44T>G;VC=Intron;Gene=SSFA2/NR_109843.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:8:0:0:12,8:398,241:39.70,0.00:13.65,0.00:26.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.2,10.0:0,0:0,0:98,121:52,29:22,18:NM_001130445.1(SSFA2) c.1575+44T>G,-:0.11,-:0.140726,- 2 182781155 . G . . NT END=182781564;NT GT ./. 2 182781733 . G . . NT END=182783049;NT GT ./. 2 182783198 . G . . NT END=182783324;NT GT ./. 2 182783403 . G . . NT END=182783481;NT GT ./. 2 182783610 . G . . NT END=182784022;NT GT ./. 2 182784174 . G . . NT END=182785323;NT GT ./. 2 182785390 . G . . NT END=182786674;NT GT ./. 2 182787140 . G . . NT END=182792887;NT GT ./. 2 182793006 . G . . NT END=182794287;NT GT ./. 2 182794384 . G . . NT END=182850837;NT GT ./. 2 182794534 rs1051085 G A 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1486,A/0.8514;PC=0.422;Gene=SSFA2/NM_001130445.2/1;CC=c.*260G>A;VC=3UTR;Gene=SSFA2/NM_001287503.1/0;CC=c.*260G>A;VC=3UTR;Gene=SSFA2/NM_001287504.1/0;CC=c.*260G>A;VC=3UTR;Gene=SSFA2/NM_006751.6/0;CC=c.*151G>A;VC=3UTR;Gene=SSFA2/NR_109843.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:0:0:0:11:355:40.75:0.00:40.75:1.00:0.00:1.00:60:33.8:0:0:121:29:26:NM_001130445.1(SSFA2) c.*260G>A,NM_001130445.1(SSFA2) c.*260G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 2 182850919 . G . . NT END=182852544;NT GT ./. 2 182852627 . G . . NT END=182926168;NT GT ./. 2 182868414 rs397769064 A ATGTG 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4173,ATG/.,ATGTG/0.5044,ATGTGTG/0.0651,ATGTGTGTG/0.01318;DB;DBA=NA;PAF=NA;NP=14;NP=299;PC=0.001;Gene=PPP1R1C/NR_048567.1/0;VC=NonCoding;Gene=PPP1R1C/NM_001080545.2/0;CC=c.142+15809_142+15810insGTGT;VC=Intron;Gene=PPP1R1C/NM_001261424.1/1;CC=c.163+15809_163+15810insGTGT;VC=Intron;Gene=PPP1R1C/NM_001261425.1/0;CC=c.142+15809_142+15810insGTGT;VC=Intron;Gene=PPP1R1C/NR_048566.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:ATGTG:4:3:4:0:4:131:15.01:7.75:7.25:1.00:1.00:1.00:60:1.2:0:0:46:75:9:NM_001261424.1(PPP1R1C) c.163+15788_163+15789insTGTG,NM_001261424.1(PPP1R1C) c.163+15788_163+15789insTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 182926144 rs3754930 T C 61 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.8782,C/0.1218;PC=0.570;Gene=PPP1R1C/NR_048567.1/0;VC=NonCoding;Gene=PPP1R1C/NM_001080545.2/0;CC=c.143-25T>C;VC=Intron;Gene=PPP1R1C/NM_001261424.1/1;CC=c.164-25T>C;VC=Intron;Gene=PPP1R1C/NM_001261425.1/0;CC=c.143-25T>C;VC=Intron;Gene=PPP1R1C/NR_048566.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:22:17:0:0:17,5:582,165:61.19,0.00:37.01,0.00:24.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,2.6:0,0:0,0:42,81:88,69:27,29:NM_001261424.1(PPP1R1C) c.164-25T>C,-:0.12,-:0.077676,- 2 182926207 . G . . NT END=182928457;NT GT ./. 2 182928519 . G . . NT END=182981933;NT GT ./. 2 182928555 rs1196161 G C 125 nt VT=SNV;PN=G;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.1186,C/0.8814;Gene=PPP1R1C/NR_048567.1/0;VC=NonCoding;Gene=PPP1R1C/NM_001080545.2/0;CC=c.241+37G>C;VC=Intron;Gene=PPP1R1C/NM_001261424.1/1;CC=c.262+37G>C;VC=Intron;Gene=PPP1R1C/NM_001261425.1/0;CC=c.241+37G>C;VC=Intron;Gene=PPP1R1C/NR_048566.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:17:0:0:33:1098:125.48:45.76:79.72:1.00:1.00:1.00:60:39.3:0:0:105:46:27:NM_001261424.1(PPP1R1C) c.262+37G>C,NM_001261424.1(PPP1R1C) c.262+37G>C:0.87,0.87:0.924131,0.924131 2 182981846 rs1882211 G C 74 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.3944,C/0.6056;PC=0.003;Gene=PPP1R1C/NR_048567.1/0;VC=NonCoding;Gene=PPP1R1C/NM_001080545.2/0;CC=c.242-88G>C;VC=Intron;Gene=PPP1R1C/NM_001261424.1/1;CC=c.263-88G>C;VC=Intron;Gene=PPP1R1C/NM_001261425.1/0;CC=c.242-88G>C;VC=Intron;Gene=PPP1R1C/NR_048566.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:646:73.66:69.73:3.93:1.00:1.00:1.00:60:36.3:0:0:71:80:23:NM_001261424.1(PPP1R1C) c.263-88G>C,NM_001261424.1(PPP1R1C) c.263-88G>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 182982023 . T . . NT END=183011805;NT GT ./. 2 182997112 rs5836819 GTGTT G 12 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=268;PC=0.007;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:GTGTT,G:6:4:0:4:2,4:72,118:0.00,12.05:0.00,2.94:0.00,9.11:0.00,0.93:0.00,0.99:0.00,0.99:60,70:44.0,20.5:1,0:0,0:46,83:70,26:8,25:-,chr2 g.182997113_182997116delTGTT (intergenic):-,0.67:-,NOT_FOUND 2 183006850 rs67394351 A AAC 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=165;NP=3;Gene=PDE1A/NM_005019.4/0;CC=c.*958_*959insGT;VC=3UTR;Gene=PDE1A/NM_001258312.1/1;CC=c.*958_*959insGT;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,AAC:5:4:4:0:1,4:33,126:0.00,13.42:0.00,8.65:0.00,4.77:0.00,0.96:0.00,1.00:0.00,0.97:60,60:44.0,25.2:0,0:0,0:36,92:75,57:0,5:-,NM_001258312.1(PDE1A) c.*957_*958dupGT:-,NOT_FOUND:-,NOT_FOUND 2 183011880 . C . . NT END=183032613;NT GT ./. 2 183032495 rs6721984 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7472,C/0.2528;PC=0.004;Gene=PDE1A/NM_005019.4/0;CC=c.1564+18124A>G;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1576+18124A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:9,8:278,244:26.97,0.00:25.12,0.00:1.85,0.00:1.00,0.00:1.00,0.00:0.69,0.00:60,60:59.1,46.1:0,0:0,0:53,59:97,82:53,17:NM_001258312.1(PDE1A) c.1576+18124A>G,-:0.23,-:NOT_FOUND,- 2 183032556 rs5836826 AT A 45 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=AT/0.485,A/0.515;DB;DBA=NA;PAF=AT/0.485,A/0.515;NP=18;Gene=PDE1A/NM_005019.4/0;CC=c.1564+18062delA;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1576+18062delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:31:27:1:16:15,1,15:482,33,502:0.00,2.07,45.50:0.00,0.95,29.17:0.00,1.11,16.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:29.1,36.0,56.6:0,0,1:0,0,0:55,6,29:95,110,121:43,0,23:-,NM_001258312.1(PDE1A) c.1576+18062delA:-,NOT_FOUND:-,NOT_FOUND 2 183032580 rs1196065 A C 141 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.2314,C/0.7686;Gene=PDE1A/NM_005019.4/0;CC=c.1564+18039T>G;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1576+18039T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:40:34:0:0:40:1223:141.28:103.70:37.58:1.00:1.00:1.00:60:47.9:0:0:31:114:21:NM_001258312.1(PDE1A) c.1576+18039T>G,NM_001258312.1(PDE1A) c.1576+18039T>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 183033018 . C . . NT END=183050523;NT GT ./. 2 183033020 rs199755981 GA G 66 idl,rn VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=GA/0.6857,G/0.3143;NP=288;PC=0.545;Gene=PDE1A/NM_005019.4/0;CC=c.1564+17598delT;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1576+17598delT;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.1463-4delT;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1517-4delT;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1565-4delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:57:30:1:26:1,32,1,23:11,1059,32,773:-0.04,0.00,1.67,65.90:-0.10,0.00,1.82,17.42:0.06,0.00,-0.14,48.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:21.0,4.7,10.0,12.3:0,0,0,2:0,0,0,0:3,109,59,96:146,16,91,51:0,33,0,29:-,NM_001258312.1(PDE1A) c.1576+17598delT:-,NOT_FOUND:-,NOT_FOUND 2 183034649 rs112275456 G A 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7426,A/0.2574;NP=82;Gene=PDE1A/NM_005019.4/0;CC=c.1564+15970C>T;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1576+15970C>T;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.1463-1632C>T;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1517-1632C>T;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1565-1632C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:4:0:3:3,1:103,36:10.75,0.00:9.13,0.00:1.63,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:66.3,67.0:0,0:0,0:25,50:126,75:3,0:NM_001258312.1(PDE1A) c.1576+15970C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 183034692 rs5836829 TAC C,T 14 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TAC/0.4742,T/0.5258;NP=235 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:67:C,T:6:6:0:5:2,4:70,168:6.86,14.34:3.43,7.07:3.43,7.27:0.00,0.90:0.00,0.99:0.00,0.98:60,60:83.5,57.8:0,1:0,0:94,74:31,77:1,16:NM_001258312.1(PDE1A) c.1576+15926_1576+15927delTA,NM_001258312.1(PDE1A) c.1576+15925_1576+15926delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 183050386 rs1864855 G C 52 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2254,C/0.7746;Gene=PDE1A/NM_005019.4/0;CC=c.1564+233C>G;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1576+233C>G;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.1462+233C>G;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1516+233C>G;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1564+233C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:15:0:0:15:446:51.69:51.69:0.00:1.00:1.00:0.00:60:35.9:0:0:44:106:22:NM_001258312.1(PDE1A) c.1576+233C>G,NM_001258312.1(PDE1A) c.1576+233C>G:0.79,0.79:NOT_FOUND,NOT_FOUND 2 183050807 . C . . NT END=183051194;NT GT ./. 2 183050963 rs1368216 C G 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.7454,A/.,G/0.2546;Gene=PDE1A/NM_005019.4/0;CC=c.1377-157G>C;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1389-157G>C;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.1275-157G>C;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1329-157G>C;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1377-157G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:25:3:0:0:13,12:399,339:0.00,32.09:0.00,2.79:0.00,29.30:0.00,1.00:0.00,0.87:0.00,1.00:60,60:14.9,33.5:0,0:0,0:107,110:43,40:26,19:-,NM_001258312.1(PDE1A) c.1389-157G>C:-,0.24:-,NOT_FOUND 2 183051316 . C . . NT END=183053705;NT GT ./. 2 183051421 rs7597711 A G 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=PDE1A/NM_005019.4/0;CC=c.1256-106T>C;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1268-106T>C;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.1154-106T>C;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1208-106T>C;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1256-106T>C;VC=Intron;DM=PDE1A/PDEase_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G,T:14:4:0:0:13,1:384,10:44.07,0.45:8.09,0.00:35.98,0.45:1.00,0.00:1.00,0.00:1.00,0.00:60,60:73.5,59.0:0,0:0,0:91,68:60,83:33,0:NM_001258312.1(PDE1A) c.1268-106T>C,NM_001258312.1(PDE1A) c.1268-106T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 2 183051449 rs10930991 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7452,C/0.2548;Gene=PDE1A/NM_005019.4/0;CC=c.1256-134A>G;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1268-134A>G;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.1154-134A>G;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1208-134A>G;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1256-134A>G;VC=Intron;DM=PDE1A/PDEase_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:12:0:0:0:7,5:237,156:23.50,0.00:0.00,0.00:23.50,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:77.4,54.8:0,0:0,0:108,62:43,89:23,34:NM_001258312.1(PDE1A) c.1268-134A>G,-:0.24,-:NOT_FOUND,- 2 183053658 rs3769796 C G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.7925,G/0.2075;Gene=PDE1A/NM_005019.4/0;CC=c.1255+48G>C;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1267+48G>C;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.1153+48G>C;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1207+48G>C;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1255+48G>C;VC=Intron;DM=PDE1A/PDEase_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:22:0:0:10,14:324,482:0.00,47.80:0.00,45.34:0.00,2.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,37.0:0,0:0,0:35,35:114,100:20,20:-,NM_001258312.1(PDE1A) c.1267+48G>C:-,0.22:-,0.180455 2 183053788 . C . . NT END=183066165;NT GT ./. 2 183066287 . C . . NT END=183066414;NT GT ./. 2 183066377 rs72168532 C CAA 45 idl,rn VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.4964,CA/0.5036;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=2;NP=2;NP=36;NP=5;NP=5;NP=6;Gene=PDE1A/NM_005019.4/0;CC=c.1052+36_1052+37dupTT;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.1064+36_1064+37dupTT;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.950+36_950+37dupTT;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.1004+36_1004+37dupTT;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.1052+36_1052+37dupTT;VC=Intron;DM=PDE1A/PDEase_I;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CAA:34:32:27:0:6,13,15:200,405,835:16.77,0.00,45.03:-0.51,0.00,38.63:17.28,0.00,6.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:121.2,30.2,50.1:4,1,12:0,0,0:89,140,54:56,9,96:17,10,16:-,NM_001258312.1(PDE1A) c.1064+37_1064+38insTT:-,NOT_FOUND:-,NOT_FOUND 2 183066517 . C . . NT END=183070666;NT GT ./. 2 183070793 . C . . NT END=183088590;NT GT ./. 2 183070963 rs183431632 A T 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.9848,T/0.01518;PC=0.001;Gene=PDE1A/NM_005019.4/0;CC=c.825-171T>A;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.837-171T>A;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.723-171T>A;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.777-171T>A;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.825-171T>A;VC=Intron;DM=PDE1A/PDEase_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,T:11:0:0:0:7,4:201,132:0.00,11.99:0.00,0.00:0.00,11.99:0.00,0.82:0.00,0.00:0.00,0.82:60,60:0.0,33.0:0,0:0,0:120,100:31,49:21,35:-,NM_001258312.1(PDE1A) c.837-171T>A:-,0.02:-,NOT_FOUND 2 183088584 rs3754929 G A 117 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.2736,A/0.7264;Gene=PDE1A/NM_005019.4/0;CC=c.824+7C>T;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.836+7C>T;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.722+7C>T;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.776+7C>T;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.824+7C>T;VC=Intron;DM=PDE1A/PDEase_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:27:0:0:31:1024:117.18:81.15:36.03:1.00:1.00:1.00:60:36.5:0:0:42:108:21:NM_001258312.1(PDE1A) c.836+7C>T,NM_001258312.1(PDE1A) c.836+7C>T:0.69,0.69:0.695662,0.695662 2 183088692 . C . . NT END=183094732;NT GT ./. 2 183094507 rs34116983 CT C 17 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CT/0.5515,C/0.4485;DB;DBA=NA;PAF=CT/0.5515,C/0.4485;NP=67;Gene=PDE1A/NM_005019.4/0;CC=c.723+225delA;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.735+225delA;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.621+225delA;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.675+225delA;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.723+225delA;VC=Intron;DM=PDE1A/PDEase_I;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:CT,C:6:6:0:5:1,5:35,158:0.00,17.01:0.00,17.01:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:0.0,23.4:1,0:0,0:68,28:82,123:0,20:-,NM_001258312.1(PDE1A) c.735+225delA:-,NOT_FOUND:-,NOT_FOUND 2 183094874 . C . . NT END=183095741;NT GT ./. 2 183095859 . C . . NT END=183099158;NT GT ./. 2 183098502 rs71405476 CCACACA C 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CCACACA/0.0627,C/0.9373;NP=31;PC=0.011;Gene=PDE1A/NM_005019.4/0;CC=c.465+651_465+656delTGTGTG;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.477+651_477+656delTGTGTG;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.363+651_363+656delTGTGTG;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.417+651_417+656delTGTGTG;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.465+651_465+656delTGTGTG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:4:0:4:2:134:6.95:1.69:5.26:0.51:0.51:0.89:60:8.5:2:0:54:56:31:NM_001258312.1(PDE1A) c.477+651_477+656delTGTGTG,NM_001258312.1(PDE1A) c.477+651_477+656delTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 183099226 . C . . NT END=183104836;NT GT ./. 2 183105020 . C . . NT END=183106528;NT GT ./. 2 183106252 rs1864847 G C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2346,C/0.7654;Gene=PDE1A/NM_005019.4/0;CC=c.216-1233C>G;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.228-1233C>G;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.113+277C>G;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.168-1233C>G;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.216-1233C>G;VC=Intron;DM=PDE1A/PDEase_I_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:33.0:0:0:42:108:24:NM_001258312.1(PDE1A) c.228-1233C>G,NM_001258312.1(PDE1A) c.228-1233C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 183106427 rs2623435 C G 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2428,G/0.7572;Gene=PDE1A/NM_005019.4/0;CC=c.216-1408G>C;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.228-1408G>C;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.113+102G>C;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.168-1408G>C;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.216-1408G>C;VC=Intron;DM=PDE1A/PDEase_I_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:G:19:19:0:0:19:510:59.81:59.81:0.00:1.00:1.00:0.00:60:29.5:0:0:60:90:26:NM_001258312.1(PDE1A) c.228-1408G>C,NM_001258312.1(PDE1A) c.228-1408G>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 183106758 rs2568667 T G 267 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.2428,G/0.7572;PC=0.043;Gene=PDE1A/NM_005019.4/0;CC=c.216-1739A>C;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.228-1739A>C;VC=Intron;Gene=PDE1A/NM_001258314.1/0;CC=c.-117A>C;VC=5UTR;Gene=PDE1A/NM_001258313.1/0;CC=c.168-1739A>C;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.216-1739A>C;VC=Intron;DM=PDE1A/PDEase_I_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:45:0:0:76:2315:267.47:120.23:147.24:1.00:1.00:1.00:60:37.1:0:0:84:67:36:NM_001258312.1(PDE1A) c.228-1739A>C,NM_001258312.1(PDE1A) c.228-1739A>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 183106791 . G . . NT END=183129027;NT GT ./. 2 183106997 rs2170403 G T 66 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.243,T/0.757;Gene=PDE1A/NM_005019.4/0;CC=c.216-1978C>A;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.228-1978C>A;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.168-1978C>A;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.216-1978C>A;VC=Intron;DM=PDE1A/PDEase_I_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:0:0:0:18:572:65.74:0.00:65.74:1.00:0.00:1.00:60:43.7:0:0:127:23:20:NM_001258312.1(PDE1A) c.228-1978C>A,NM_001258312.1(PDE1A) c.228-1978C>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 183129142 . C . . NT END=183291304;NT GT ./. 2 183129242 rs10930999 A G 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.7428,G/0.2572;Gene=PDE1A/NM_005019.4/0;CC=c.102-101T>C;VC=Intron;Gene=PDE1A/NM_001258312.1/1;CC=c.114-101T>C;VC=Intron;Gene=PDE1A/NM_001258313.1/0;CC=c.54-101T>C;VC=Intron;Gene=PDE1A/NM_001003683.2/0;CC=c.102-101T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:1:0:0:22:739:84.39:2.88:81.52:1.00:1.00:1.00:60:38.5:0:0:109:40:22:NM_001258312.1(PDE1A) c.114-101T>C,NM_001258312.1(PDE1A) c.114-101T>C:0.25,0.25:NOT_FOUND,NOT_FOUND 2 183291776 . C . . NT END=183387002;NT GT ./. 2 183387337 . G . . NT END=183387344;NT GT ./. 2 183387367 . G . . NT END=183582813;NT GT ./. 2 183387612 rs2303890 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6731,C/0.3269;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:181:C,T:18:0:0:0:10,8:260,178:25.46,0.00:0.00,0.00:25.46,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.9,46.6:0,0:0,0:124,113:26,37:19,30:NM_001258312.1(PDE1A) c.-206-u40A>G,-:0.34,-:NOT_FOUND,- 2 183583018 . G . . NT END=183584733;NT GT ./. 2 183583130 rs2118591 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6054,G/0.3946;Gene=DNAJC10/NM_001271581.1/0;CC=c.204+113A>G;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.204+113A>G;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:0:0:0:7,6:229,206:0.00,19.57:0.00,0.00:0.00,19.57:0.00,0.97:0.00,0.00:0.00,0.97:60,60:1.7,34.3:0,0:0,0:98,98:52,51:17,8:-,NM_018981.1(DNAJC10) c.204+113A>G:-,0.41:-,NOT_FOUND 2 183584755 rs6729801 G A 76 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.648,A/0.352;PC=1.000;Gene=DNAJC10/NM_001271581.1/0;CC=c.226G>A;ProtCh=p.D76N;VC=Missense;Gene=DNAJC10/NM_018981.2/1;CC=c.226G>A;ProtCh=p.D76N;VC=Missense;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:35:0:0:23,21:781,641:75.85,0.00:39.37,0.00:36.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,1.5:0,0:0,0:56,81:82,64:38,32:NM_018981.1(DNAJC10) c.226G>A (p.Asp76Asn),-:0.36,-:0.435568,- 2 183584897 . G . . NT END=183586751;NT GT ./. 2 183586803 . G . . NT END=183593302;NT GT ./. 2 183593386 . G . . NT END=183593589;NT GT ./. 2 183593451 rs398080876 AT A 63 rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=AT/0.6064,A/0.3936;DB;DBA=NA;PAF=AT/0.6064,A/0.3936;NP=2297;PC=0.010;Gene=DNAJC10/NM_001271581.1/0;CC=c.501+75delT;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.501+75delT;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:40:20:0:21:19,21:559,652:0.00,63.23:0.00,26.89:0.00,36.34:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.7,2.0:0,0:0,0:120,114:31,37:19,25:-,NM_018981.1(DNAJC10) c.501+67delT:-,0.41:-,NOT_FOUND 2 183593697 rs288280 C T 200 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.3375,T/0.6625;PC=1.000;Gene=DNAJC10/NM_001271581.1/0;CC=c.609C>T;ProtCh=p.S203=;VC=Silent;Gene=DNAJC10/NM_018981.2/1;CC=c.609C>T;ProtCh=p.S203=;VC=Silent;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:T:55:35:0:0:55:1737:199.89:93.26:106.63:1.00:1.00:1.00:60:38.8:0:0:78:71:37:NM_018981.1(DNAJC10) c.609C>T (p.(=)),NM_018981.1(DNAJC10) c.609C>T (p.(=)):0.65,0.65:0.696832,0.696832 2 183593722 . G . . NT END=183594574;NT GT ./. 2 183593882 rs112024053 A AT 8 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.003;Gene=DNAJC10/NM_001271581.1/0;CC=c.633+172_633+173insT;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.633+172_633+173insT;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:A,AT,D:15:1:3:1:11,3,1:323,96,29:0.00,7.87,1.87:0.00,-0.10,-0.03:0.00,7.97,1.90:0.00,0.55,0.00:0.00,0.47,0.00:0.00,0.92,0.00:60,60,60:15.9,2.7,33.0:0,0,0:0,0,0:127,129,9:24,21,142:17,5,0:-,NM_018981.1(DNAJC10) c.633+161_633+162insT:-,NOT_FOUND:-,NOT_FOUND 2 183593954 rs7593637 C T 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8299,T/0.1701;PC=0.001;Gene=DNAJC10/NM_001271581.1/0;CC=c.633+233C>T;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.633+233C>T;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:10:2:0:0:6,4:180,126:0.00,11.60:0.00,1.63:0.00,9.97:0.00,0.84:0.00,0.70:0.00,0.84:60,60:26.3,37.5:0,0:0,0:54,67:96,76:13,27:-,NM_018981.1(DNAJC10) c.633+233C>T:-,0.15:-,NOT_FOUND 2 183594362 rs59026447 G GA 24 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3431,GA/0.6569;DB;DBA=NA;PAF=G/0.3431,GA/0.6569;NP=517;PC=0.001;Gene=DNAJC10/NM_001271581.1/0;CC=c.634-211dupA;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.634-211dupA;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:G,GA:8:8:7:0:1,7:35,216:0.00,23.63:0.00,23.63:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,8.3:1,0:0,0:130,40:21,111:0,34:-,NM_018981.1(DNAJC10) c.634-213_634-212insA:-,0.64:-,NOT_FOUND 2 183594669 . G . . NT END=183595756;NT GT ./. 2 183595835 . G . . NT END=183597225;NT GT ./. 2 183597051 rs143941720 T TTG 9 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=2;Gene=DNAJC10/NM_001271581.1/0;CC=c.806-164_806-163insGT;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.806-164_806-163insGT;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:G,T,TTG:8:8:3:1:2,3,3:42,93,96:3.58,0.00,9.14:3.58,0.00,9.14:0.00,0.00,0.00:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.00:60,60,60:68.5,59.7,50.3:1,0,0:0,0,0:57,17,32:93,134,100:7,10,6:-,NM_018981.1(DNAJC10) c.806-175_806-174insTG:-,NOT_FOUND:-,NOT_FOUND 2 183597063 rs34295287 T G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3446,G/0.5016;DB;DBA=NA;PAF=T/0.3446,TG/0.1538;Gene=DNAJC10/NM_001271581.1/0;CC=c.806-163T>G;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.806-163T>G;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:262:30.01:30.01:0.00:1.00:1.00:0.00:60:58.4:0:0:54:87:23:NM_018981.1(DNAJC10) c.806-163T>G,NM_018981.1(DNAJC10) c.806-163T>G:0.55,0.55:NOT_FOUND,NOT_FOUND 2 183597270 . G . . NT END=183600975;NT GT ./. 2 183597318 rs825660 A G 97 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.3251,G/0.6749;Gene=DNAJC10/NM_001271581.1/0;CC=c.849+49A>G;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.849+49A>G;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C,G:28:13:0:0:1,27:15,842:0.63,96.57:0.63,33.30:0.00,63.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.0,40.6:0,0:0,0:149,105:2,45:0,33:NM_018981.1(DNAJC10) c.849+49A>G,NM_018981.1(DNAJC10) c.849+49A>G:0.65,0.65:0.707135,0.707135 2 183597462 rs17356762 G A 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6837,A/0.3163;PC=0.066;Gene=DNAJC10/NM_001271581.1/0;CC=c.849+193G>A;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.849+193G>A;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:7:0:0:0:3,4:101,128:9.46,0.00:0.00,0.00:9.46,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:33.7,26.0:0,0:0,0:95,59:55,90:41,34:NM_018981.1(DNAJC10) c.849+193G>A,-:0.33,-:NOT_FOUND,- 2 183600806 rs4018696 T TAAG 25 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3345,TAAG/0.6655;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3345,TAAG/0.6655;DB;DBA=NA;PAF=T/0.3345,TAAG/0.6655;NP=509;PC=0.021;Gene=DNAJC10/NM_001271581.1/0;CC=c.849+3540_849+3541insAAG;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.850-167_850-166insAAG;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:TAAG:7:7:7:0:7:216:24.94:24.94:0.00:1.00:1.00:0.00:60:4.1:0:0:25:126:10:NM_018981.1(DNAJC10) c.850-170_850-169insAAG,NM_018981.1(DNAJC10) c.850-170_850-169insAAG:0.65,0.65:NOT_FOUND,NOT_FOUND 2 183601114 . G . . NT END=183604271;NT GT ./. 2 183604507 rs10167605 A C 88 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.9159,C/0.08407;Gene=DNAJC10/NM_001271581.1/0;CC=c.850-519A>C;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.988-519A>C;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:52:27:0:0:24,28:759,907:0.00,88.45:0.00,39.70:0.00,48.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,42.6:1,0:0,0:106,71:45,79:38,41:-,NM_018981.1(DNAJC10) c.988-519A>C:-,0.08:-,NOT_FOUND 2 183604800 rs288256 A G 224 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.378,G/0.622;Gene=DNAJC10/NM_001271581.1/0;CC=c.850-226A>G;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.988-226A>G;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G:60:37:0:0:60:1950:223.59:104.09:119.51:1.00:1.00:1.00:70:38.1:0:0:87:63:34:NM_018981.1(DNAJC10) c.988-226A>G,NM_018981.1(DNAJC10) c.988-226A>G:0.61,0.61:NOT_FOUND,NOT_FOUND 2 183604828 rs10608203 CAGCTT C 63 PASS VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=CAGCTT/0.8301,C/0.1699;NP=12;Gene=DNAJC10/NM_001271581.1/0;CC=c.850-195_850-191delCTTAG;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.988-195_988-191delCTTAG;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAGCTT,C:53:34:0:22:31,22:1016,683:0.00,63.18:0.00,21.13:0.00,42.05:0.00,1.00:0.00,1.00:0.00,1.00:60,70:31.1,37.8:0,0:0,0:88,84:63,66:45,34:-,NM_018981.1(DNAJC10) c.988-197_988-193delAGCTT:-,0.15:-,NOT_FOUND 2 183605116 . G . . NT END=183605969;NT GT ./. 2 183606084 . G . . NT END=183608324;NT GT ./. 2 183608440 . G . . NT END=183616384;NT GT ./. 2 183616150 rs386134 T C 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.002596,C/0.9974;NP=748;Gene=DNAJC10/NM_001271581.1/0;CC=c.1169-235T>C;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.1307-235T>C;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:294:33.69:33.69:0.00:1.00:1.00:0.00:60:38.8:0:0:76:74:21:NM_018981.1(DNAJC10) c.1307-235T>C,NM_018981.1(DNAJC10) c.1307-235T>C:1,1:NOT_FOUND,NOT_FOUND 2 183616513 . G . . NT END=183616798;NT GT ./. 2 183616592 rs3098359 C T 146 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DNAJC10/NM_001271581.1/0;CC=c.1296+80C>T;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.1434+80C>T;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:12:0:0:40:1270:146.01:32.32:113.69:1.00:1.00:1.00:60:33.7:0:0:79:71:36:NM_018981.1(DNAJC10) c.1434+80C>T,NM_018981.1(DNAJC10) c.1434+80C>T:1,1:NOT_FOUND,NOT_FOUND 2 183616748 rs3115425 G C 121 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.378,C/0.622;Gene=DNAJC10/NM_001271581.1/0;CC=c.1297-51G>C;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.1435-51G>C;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:24:0:0:34:1049:121.06:79.78:41.29:1.00:1.00:1.00:60:36.3:1:0:63:87:47:NM_018981.1(DNAJC10) c.1435-51G>C,NM_018981.1(DNAJC10) c.1435-51G>C:0.61,0.61:0.658081,0.658081 2 183616916 . G . . NT END=183617275;NT GT ./. 2 183617351 . G . . NT END=183619429;NT GT ./. 2 183617440 rs61411602 CA C 13 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=50;Gene=DNAJC10/NM_001271581.1/0;CC=c.1413+541delA;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.1551+541delA;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,CA,I,C:14:3:1:7:2,6,1,5:64,146,33,164:5.23,0.00,2.43,12.95:-0.03,0.00,-0.02,5.01:5.27,0.00,2.44,7.94:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.73:0.00,0.00,0.00,0.99:60,60,60,70:59.5,31.5,35.0,46.6:1,0,0,1:0,0,0,0:42,146,65,120:102,4,86,30:42,1,0,12:-,NM_018981.1(DNAJC10) c.1551+526delA:-,NOT_FOUND:-,NOT_FOUND 2 183619533 . G . . NT END=183619729;NT GT ./. 2 183619832 . G . . NT END=183621040;NT GT ./. 2 183621197 . G . . NT END=183622418;NT GT ./. 2 183622319 rs559978485 AATAAT A 20 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=AATAAT/0.6074,A/0.3926;DB;DBA=NA;PAF=AATAAT/0.6074,A/0.3926;NP=1727;PC=0.001;Gene=DNAJC10/NM_001271581.1/0;CC=c.1672-93_1672-89delTAATA;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.1810-93_1810-89delTAATA;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AATAAT,A:21:18:0:7:14,7:435,221:0.00,19.64:0.00,17.13:0.00,2.51:0.00,0.97:0.00,1.00:0.00,0.94:60,70:11.2,7.6:0,0:0,0:46,15:90,135:39,15:-,NM_018981.1(DNAJC10) c.1810-99_1810-95delATAAT:-,0.41:-,NOT_FOUND 2 183622547 rs288334 T G 119 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.3375,G/0.6625;PC=0.634;Gene=DNAJC10/NM_001271581.1/0;CC=c.1800T>G;ProtCh=p.H600Q;VC=Missense;Gene=DNAJC10/NM_018981.2/1;CC=c.1938T>G;ProtCh=p.H646Q;VC=Missense;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:10:0:0:31:1041:118.88:27.38:91.51:1.00:1.00:1.00:60:36.5:0:0:114:36:26:NM_018981.1(DNAJC10) c.1938T>G (p.His646Gln),NM_018981.1(DNAJC10) c.1938T>G (p.His646Gln):0.65,0.65:0.697247,0.697247 2 183622553 . G . . NT END=183623563;NT GT ./. 2 183622641 rs288333 A G 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.768,G/0.232;PC=0.220;Gene=DNAJC10/NM_001271581.1/0;CC=c.1805+89A>G;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.1943+89A>G;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:A,C,G:13:1:0:0:7,1,5:210,12,178:0.00,0.40,16.64:0.00,-0.02,-0.11:0.00,0.41,16.74:0.00,0.00,0.91:0.00,0.00,0.59:0.00,0.00,0.91:60,60,60:19.7,81.0,44.6:0,0,0:0,0,0:96,94,72:54,52,79:28,0,6:-,NM_018981.1(DNAJC10) c.1943+89A>G:-,0.2:-,NOT_FOUND 2 183623618 . G . . NT END=183623886;NT GT ./. 2 183624035 . G . . NT END=183627408;NT GT ./. 2 183627504 rs192618 A G 168 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.3766,G/0.6234;PC=0.999;Gene=DNAJC10/NM_001271581.1/0;CC=c.2103A>G;ProtCh=p.K701=;VC=Silent;Gene=DNAJC10/NM_018981.2/1;CC=c.2241A>G;ProtCh=p.K747=;VC=Silent;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:G:43:26:0:0:43:1473:167.77:67.66:100.11:1.00:1.00:1.00:60:41.5:0:0:79:61:29:NM_018981.1(DNAJC10) c.2241A>G (p.(=)),NM_018981.1(DNAJC10) c.2241A>G (p.(=)):0.61,0.61:0.662233,0.662233 2 183627529 . G . . NT END=183640042;NT GT ./. 2 183627619 rs190830 C G 95 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.3347,G/0.6653;Gene=DNAJC10/NM_001271581.1/0;CC=c.2127+91C>G;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.2265+91C>G;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:3:0:0:26:829:95.23:5.41:89.82:1.00:1.00:1.00:60:46.8:0:0:92:59:30:NM_018981.1(DNAJC10) c.2265+91C>G,NM_018981.1(DNAJC10) c.2265+91C>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 183639766 rs288285 T G 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3814,G/0.6186;Gene=DNAJC10/NM_001271581.1/0;CC=c.2128-277T>G;VC=Intron;Gene=DNAJC10/NM_018981.2/1;CC=c.2266-277T>G;VC=Intron;Gene=DNAJC10/NR_073365.1/0;VC=NonCoding;Gene=DNAJC10/NR_073366.1/0;VC=NonCoding;Gene=DNAJC10/NR_073367.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:169:19.28:19.28:0.00:1.00:1.00:0.00:60:90.2:0:0:21:128:17:NM_018981.1(DNAJC10) c.2266-277T>G,NM_018981.1(DNAJC10) c.2266-277T>G:0.61,0.61:NOT_FOUND,NOT_FOUND 2 183640148 . G . . NT END=183641847;NT GT ./. 2 183641860 . T . . NT END=183699575;NT GT ./. 2 183699693 . C . . NT END=183702675;NT GT ./. 2 183702740 . C . . NT END=183703136;NT GT ./. 2 183703342 . C . . NT END=183707205;NT GT ./. 2 183707272 . C . . NT END=183723513;NT GT ./. 2 183723562 . C . . NT END=183730802;NT GT ./. 2 183723722 rs6433992 A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4211,G/0.5789;Gene=FRZB/NM_001463.3/1;CC=c.479-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:225:25.84:0.00:25.84:1.00:0.00:1.00:60:46.9:0:0:106:44:26:NM_001463.3(FRZB) c.479-161T>C,NM_001463.3(FRZB) c.479-161T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 2 183731281 . G . . NT END=183790429;NT GT ./. 2 183790547 . C . . NT END=183791543;NT GT ./. 2 183791634 . C . . NT END=183792844;NT GT ./. 2 183792955 . C . . NT END=183793510;NT GT ./. 2 183793383 rs9333279 T C 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3788,C/0.6212;Gene=NCKAP1/NM_013436.4/0;CC=c.3070+128A>G;VC=Intron;Gene=NCKAP1/NM_205842.2/1;CC=c.3088+128A>G;VC=Intron;DM=NCKAP1/Nckap1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:295:34.22:34.22:0.00:1.00:1.00:0.00:60:65.3:0:0:36:114:17:NM_205842.1(NCKAP1) c.3088+128A>G,NM_205842.1(NCKAP1) c.3088+128A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 2 183793398 rs9333280 A G 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2957,G/0.7043;Gene=NCKAP1/NM_013436.4/0;CC=c.3070+113T>C;VC=Intron;Gene=NCKAP1/NM_205842.2/1;CC=c.3088+113T>C;VC=Intron;DM=NCKAP1/Nckap1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:334:38.64:38.64:0.00:1.00:1.00:0.00:60:62.2:0:0:50:100:24:NM_205842.1(NCKAP1) c.3088+113T>C,NM_205842.1(NCKAP1) c.3088+113T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 183793628 . C . . NT END=183795422;NT GT ./. 2 183795517 . C . . NT END=183799479;NT GT ./. 2 183799558 rs9288088 G C 59 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2963,C/0.7037;PC=0.992;Gene=NCKAP1/NM_013436.4/0;CC=c.2781C>G;ProtCh=p.V927=;VC=Silent;Gene=NCKAP1/NM_205842.2/1;CC=c.2799C>G;ProtCh=p.V933=;VC=Silent;DM=NCKAP1/Nckap1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:10:0:0:15:519:59.05:27.24:31.82:1.00:1.00:1.00:60:38.5:0:0:103:48:35:NM_205842.1(NCKAP1) c.2799C>G (p.(=)),NM_205842.1(NCKAP1) c.2799C>G (p.(=)):0.73,0.73:0.634562,0.634562 2 183799561 . C . . NT END=183800020;NT GT ./. 2 183800104 . C . . NT END=183806797;NT GT ./. 2 183806892 . C . . NT END=183817132;NT GT ./. 2 183817231 . C . . NT END=183817520;NT GT ./. 2 183817652 . C . . NT END=183817840;NT GT ./. 2 183818060 . C . . NT END=183821189;NT GT ./. 2 183821322 . C . . NT END=183822184;NT GT ./. 2 183822325 . C . . NT END=183826886;NT GT ./. 2 183827007 . C . . NT END=183829403;NT GT ./. 2 183827018 rs2271671 G A 98 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3802,A/0.6198;PC=0.122;Gene=NCKAP1/NM_013436.4/0;CC=c.1762-12C>T;VC=Intron;Gene=NCKAP1/NM_205842.2/1;CC=c.1780-12C>T;VC=Intron;DM=NCKAP1/Nckap1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:8:0:0:26:860:98.40:21.22:77.18:1.00:1.00:1.00:60:36.9:0:0:101:49:30:NM_205842.1(NCKAP1) c.1780-12C>T,NM_205842.1(NCKAP1) c.1780-12C>T:0.66,0.66:0.578976,0.578976 2 183829537 . C . . NT END=183831943;NT GT ./. 2 183832090 . C . . NT END=183841620;NT GT ./. 2 183832100 . CA C 10 rn VT=DEL;SST=Single;DP=30;NP=109;PC=0.004;Gene=NCKAP1/NM_013436.4/0;CC=c.1483-12delT;VC=Intron;Gene=NCKAP1/NM_205842.2/1;CC=c.1501-12delT;VC=Intron;DM=NCKAP1/Nckap1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,CA,T,I,C:30:10:3:5:1,20,1,3,5:8,570,7,83,128:-0.12,0.00,-0.15,5.83,9.73:-0.07,0.00,-0.07,-0.23,5.71:-0.04,0.00,-0.08,6.06,4.02:0.00,0.00,0.00,0.00,0.80:0.00,0.00,0.00,0.00,0.78:0.00,0.00,0.00,0.00,0.96:60,60,60,60,60:8.0,18.2,133.0,17.3,20.4:0,0,0,0,0:0,0,0,0,0:48,104,111,77,119:100,47,36,73,32:0,31,0,15,12:-,NM_205842.1(NCKAP1) c.1501-12delT:-,NOT_FOUND:-,NOT_FOUND 2 183841680 . C . . NT END=183843561;NT GT ./. 2 183841691 rs144939357 GA G 31 rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=247;PC=0.678;Gene=NCKAP1/NM_013436.4/0;CC=c.1424-13delT;VC=Intron;Gene=NCKAP1/NM_205842.2/1;CC=c.1442-13delT;VC=Intron;DM=NCKAP1/Nckap1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:23:14:1:10:1,11,1,10:7,391,31,323:-0.04,0.00,2.00,30.73:-0.11,0.00,2.11,7.23:0.06,0.00,-0.11,23.50:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:59.0,9.0,10.0,1.2:0,0,0,0:0,0,0,0:93,111,104,95:51,40,46,56:0,26,0,26:-,NM_205842.1(NCKAP1) c.1442-13delT:-,NOT_FOUND:-,NOT_FOUND 2 183843644 . C . . NT END=183845971;NT GT ./. 2 183846105 . C . . NT END=183847548;NT GT ./. 2 183847656 . C . . NT END=183848013;NT GT ./. 2 183848111 . C . . NT END=183850898;NT GT ./. 2 183850956 . C . . NT END=183853757;NT GT ./. 2 183851058 rs10185562 C T 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.01637,T/0.9836;Gene=NCKAP1/NM_013436.4/0;CC=c.948-103G>A;VC=Intron;Gene=NCKAP1/NM_205842.2/1;CC=c.966-103G>A;VC=Intron;DM=NCKAP1/Nckap1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:2:0:0:11:344:39.64:7.45:32.19:1.00:1.00:1.00:60:48.7:0:0:126:25:13:NM_205842.1(NCKAP1) c.966-103G>A,NM_205842.1(NCKAP1) c.966-103G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 183853915 . C . . NT END=183859566;NT GT ./. 2 183859616 . C . . NT END=183860428;NT GT ./. 2 183860567 . C . . NT END=183866680;NT GT ./. 2 183866772 . C . . NT END=183866854;NT GT ./. 2 183866998 . C . . NT END=183867701;NT GT ./. 2 183867004 rs60075498 G GA 7 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.9439,GA/0.05611,GAA/.;DB;DBA=NA;PAF=G/0.9439,GA/0.05611;NP=481;Gene=NCKAP1/NM_013436.4/0;CC=c.370-8dupT;VC=Intron;Gene=NCKAP1/NM_205842.2/1;CC=c.388-8dupT;VC=Intron;DM=NCKAP1/Nckap1;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G,GA:32:10:3:0:1,28,3:24,917,96:1.00,0.00,6.75:-0.11,0.00,-0.34:1.11,0.00,7.10:0.00,0.00,0.41:0.00,0.00,0.56:0.00,0.00,0.83:60,60,60:37.0,3.8,5.0:0,0,0:0,0,0:127,81,84:23,69,66:0,24,17:-,NM_205842.1(NCKAP1) c.388-8_388-7insT:-,0.06:-,NOT_FOUND 2 183867759 . C . . NT END=183867960;NT GT ./. 2 183868054 . C . . NT END=183888533;NT GT ./. 2 183888645 . C . . NT END=183889705;NT GT ./. 2 183889724 . C . . NT END=183902719;NT GT ./. 2 183902828 . G . . NT END=183943661;NT GT ./. 2 183935867 rs2952345 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7899,A/0.2101;PC=0.078 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:15:15:0:0:3,12:101,423:8.27,0.00:6.78,0.00:1.49,0.00:0.55,0.00:0.55,0.00:0.53,0.00:60,60:33.7,7.7:0,0:0,0:62,58:89,92:17,27:NM_080876.3(DUSP19) c.-375-u7420G>A,-:0.2,-:NOT_FOUND,- 2 183936705 rs186560277 G A 85 nt VT=SNV;PN=A;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.9974,A/0.002596;NP=37;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:56:40:0:0:29,1,26:878,11,908:85.07,0.00,0.00:45.83,-0.13,0.00:39.25,0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:33.3,44.0,4.3:0,0,0:0,0,0:57,14,60:91,136,83:27,0,33:NM_080876.3(DUSP19) c.-375-u6582G>A,-:0.0037,-:NOT_FOUND,- 2 183936915 rs2675117 A G 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1965,G/0.8035;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:5:0:0:16:513:58.93:13.32:45.61:1.00:1.00:1.00:60:45.8:0:0:111:40:25:NM_080876.3(DUSP19) c.-375-u6372A>G,NM_080876.3(DUSP19) c.-375-u6372A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 183943888 . G . . NT END=183948235;NT GT ./. 2 183948283 . G . . NT END=183951767;NT GT ./. 2 183951593 rs368453028 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9984,A/0.001597;NP=20;Gene=DUSP19/NM_001142314.1/0;CC=c.273+3311G>A;VC=Intron;Gene=DUSP19/NM_080876.3/1;CC=c.274-175G>A;VC=Intron;DM=DUSP19/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:10:10:0:0:4,6:131,203:12.09,0.00:12.09,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:44.2,4.0:0,0:0,0:38,39:113,111:9,29:NM_080876.3(DUSP19) c.274-175G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 183951921 . G . . NT END=183960158;NT GT ./. 2 183960033 rs2675070 G A 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.9339,A/0.06609;PC=0.268;Gene=DUSP19/NM_001142314.1/0;CC=c.274-126G>A;VC=Intron;Gene=DUSP19/NM_080876.3/1;CC=c.427-126G>A;VC=Intron;DM=DUSP19/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:13,14:422,444:40.29,0.00:40.29,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.8,7.9:0,0:0,0:51,47:98,103:35,22:NM_080876.3(DUSP19) c.427-126G>A,-:0.08,-:NOT_FOUND,- 2 183960143 . GT G 26 idl,rn VT=DEL;SST=Single;DP=67;NP=26;PC=0.143;Gene=DUSP19/NM_001142314.1/0;CC=c.274-5delT;VC=Intron;Gene=DUSP19/NM_080876.3/1;CC=c.427-5delT;VC=Intron;DM=DUSP19/DSPc;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,T,I,G:66:58:6:10:50,1,5,10:1602,8,186,332:0.00,-0.24,10.48,26.21:0.00,-0.15,8.70,12.13:0.00,-0.09,1.78,14.07:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:24.6,8.0,33.4,11.6:0,0,1,0:0,0,0,0:56,106,38,41:82,19,113,102:37,0,7,16:-,NM_080876.3(DUSP19) c.427-15delT:-,NOT_FOUND:-,0.036617 2 183960387 . G . . NT END=183988505;NT GT ./. 2 183960522 rs13399265 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4109,C/0.5891;Gene=DUSP19/NM_001142314.1/0;CC=c.*136T>C;VC=3UTR;Gene=DUSP19/NM_080876.3/1;CC=c.*136T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:C,T:6:0:0:0:3,3:106,100:10.23,0.00:0.00,0.00:10.23,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:35.3,0.0:0,0:0,0:107,84:43,66:8,9:NM_080876.3(DUSP19) c.*136T>C,-:0.61,-:NOT_FOUND,- 2 183988492 rs1473614 C G 351 nt VT=SNV;PN=A;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.04353,G/0.9565;Gene=NUP35/NM_001287584.1/1;CC=c.-12+3650C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:94:75:0:0:94:3059:350.57:187.98:162.59:1.00:1.00:1.00:60:42.0:0:0:53:86:23:NM_138285.3(NUP35) c.-103-u591C>G,NM_138285.3(NUP35) c.-103-u591C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 183988555 . G . . NT END=183989082;NT GT ./. 2 183988599 rs2251775 T C 102 nt VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.8187,C/0.1813;PC=0.001;Gene=NUP35/NM_001287584.1/1;CC=c.-12+3757T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:18:0:0:32,25:1041,810:102.31,0.00:12.59,0.00:89.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.6,40.2:0,0:0,0:115,113:27,37:23,28:NM_138285.3(NUP35) c.-103-u484T>C,-:0.18,-:NOT_FOUND,- 2 183988641 rs1473615 G A 123 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.04353,A/0.9565;Gene=NUP35/NM_001287584.1/1;CC=c.-12+3799G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:2:0:0:32:1079:123.13:3.93:119.20:1.00:1.00:1.00:60:57.2:0:0:102:41:21:NM_138285.3(NUP35) c.-103-u442G>A,NM_138285.3(NUP35) c.-103-u442G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 183988903 rs2705718 C T 79 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.04353,T/0.9565;Gene=NUP35/NM_001287584.1/1;CC=c.-12+4061C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A,G,T:26:24:0:0:1,2,23:11,31,690:0.36,1.93,78.65:0.36,1.93,71.21:0.00,0.00,7.45:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:107.0,171.0,58.5:0,0,0:0,0,0:15,45,94:136,100,57:0,12,47:NM_138285.3(NUP35) c.-103-u180C>T,NM_138285.3(NUP35) c.-103-u180C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 183988984 rs2705719 C G 206 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.04133,G/0.9587;Gene=NUP35/NM_001287584.1/1;CC=c.-11-4031C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:G:60:55:0:0:60:1774:205.76:163.11:42.65:1.00:1.00:1.00:60:49.2:0:0:32:116:24:NM_138285.3(NUP35) c.-103-u99C>G,NM_138285.3(NUP35) c.-103-u99C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 183989226 . G . . NT END=183993014;NT GT ./. 2 183993186 . G . . NT END=183995145;NT GT ./. 2 183993289 rs2705722 C T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8504,T/0.1496;PC=0.006;Gene=NUP35/NM_001287584.1/1;CC=c.160+104C>T;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-267+104C>T;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.211+104C>T;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:0:0:0:10,7:304,200:0.00,18.34:0.00,0.00:0.00,18.34:0.00,0.98:0.00,0.00:0.00,0.98:60,60:23.2,36.6:0,0:0,0:125,123:25,28:17,4:-,NM_138285.3(NUP35) c.211+104C>T:-,0.15:-,NOT_FOUND 2 183993327 . TAA T 18 rn VT=DEL;SST=Single;DP=8;NP=9;PC=0.003;Gene=NUP35/NM_001287584.1/1;CC=c.160+156_160+157delAA;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-267+156_-267+157delAA;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.211+156_211+157delAA;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:TAA,T:8:0:0:6:2,6:61,171:0.00,18.00:0.00,0.00:0.00,18.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.5,32.3:0,0:0,0:147,93:2,53:1,14:-,NM_138285.3(NUP35) c.211+143_211+144delAA:-,NOT_FOUND:-,NOT_FOUND 2 183994925 rs2675109 T C 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2296,C/0.7704;Gene=NUP35/NM_001287584.1/1;CC=c.161-221T>C;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-266-221T>C;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.212-221T>C;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:416:47.74:47.74:0.00:1.00:1.00:0.00:60:35.6:0:0:86:65:19:NM_138285.3(NUP35) c.212-221T>C,NM_138285.3(NUP35) c.212-221T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 2 183995115 rs34173657 CTT C 37 idl,rn VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=CTT/0.8642,C/0.1358;NP=38;PC=0.027;Gene=NUP35/NM_001287584.1/1;CC=c.161-13_161-12delTT;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-266-13_-266-12delTT;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.212-13_212-12delTT;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,T,I,C:50:47:8:22:28,1,6,15:827,27,250,630:0.00,1.22,15.11,37.18:0.00,-0.17,13.51,15.57:0.00,1.39,1.61,21.62:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:40.5,179.0,120.2,34.5:0,1,2,7:0,0,0,0:88,75,45,49:62,76,100,94:33,0,25,20:-,NM_138285.3(NUP35) c.212-30_212-29delTT:-,NOT_FOUND:-,NOT_FOUND 2 183995135 . G T 8 sb;idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;NP=51;PC=0.001;Gene=NUP35/NM_001287584.1/1;CC=c.161-11G>T;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-266-11G>T;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.212-11G>T;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:G,T:48:21:0:10:42,6:1252,131:0.00,8.26:0.00,10.06:0.00,-1.79:0.00,0.85:0.00,0.87:0.00,0.96:60,60:20.8,147.8:0,2:0,0:43,50:105,88:31,20:-,NM_138285.3(NUP35) c.212-11G>T:-,NOT_FOUND:-,NOT_FOUND 2 183995274 . G . . NT END=183995722;NT GT ./. 2 183995536 rs2705725 C T 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9353,T/0.0647;Gene=NUP35/NM_001287584.1/1;CC=c.288+263C>T;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-138-187C>T;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.339+263C>T;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,T:12:9:0:0:7,5:240,165:0.00,15.35:0.00,16.05:0.00,-0.70:0.00,0.92:0.00,0.98:0.00,0.82:60,60:4.0,36.4:0,0:0,0:72,80:79,71:15,22:-,NM_138285.3(NUP35) c.339+263C>T:-,0.08:-,NOT_FOUND 2 183995724 . g . . NT END=183998293;NT GT ./. 2 183995742 rs925803 A C 86 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2344,C/0.7656;Gene=NUP35/NM_001287584.1/1;CC=c.288+469A>C;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-119A>C;VC=5UTR;Gene=NUP35/NM_138285.4/0;CC=c.339+469A>C;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:12:0:0:22:760:86.49:25.30:61.19:1.00:1.00:1.00:60:40.4:0:0:122:28:18:NM_138285.3(NUP35) c.339+469A>C,NM_138285.3(NUP35) c.339+469A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 183998051 . CTTT C 15 nt VT=DEL;SST=Single;DP=5;NP=4;PC=0.003;Gene=NUP35/NM_001287584.1/1;CC=c.289-230_289-228delTTT;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-15-230_-15-228delTTT;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.340-230_340-228delTTT;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:5:0:5:4:166:14.82:14.82:0.00:0.96:0.96:0.00:60:16.2:1:0:48:100:6:NM_138285.3(NUP35) c.340-242_340-240delTTT,NM_138285.3(NUP35) c.340-242_340-240delTTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 183998237 rs1980160 C T 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8588,T/0.1412;Gene=NUP35/NM_001287584.1/1;CC=c.289-57C>T;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.-15-57C>T;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.340-57C>T;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:24:0:0:15,14:488,463:0.00,44.26:0.00,33.67:0.00,10.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,39.4:0,0:0,0:61,37:90,99:36,24:-,NM_138285.3(NUP35) c.340-57C>T:-,0.14:-,0.207184 2 183998352 . G . . NT END=184016235;NT GT ./. 2 183998366 rs576044250 CT C 38 idl,rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=CT/0.4726,C/0.5274;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CT/0.4726,C/0.5274;NP=29;PC=0.010;Gene=NUP35/NM_001287584.1/1;CC=c.346+32delT;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.43+32delT;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.397+32delT;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:35:22:3:15:19,3,13:621,99,478:0.00,7.36,37.83:0.00,3.71,9.65:0.00,3.65,28.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.3,13.3,38.1:1,0,2:0,0,0:128,54,64:17,97,68:13,48,29:-,NM_138285.3(NUP35) c.397+16delT:-,NOT_FOUND:-,NOT_FOUND 2 184016378 . G . . NT END=184022171;NT GT ./. 2 184016627 rs3762477 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8059,G/0.1941;Gene=NUP35/NM_001287584.1/1;CC=c.488+250A>G;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.185+250A>G;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.539+250A>G;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,G:4:1:0:0:2,2:55,68:0.00,6.55:0.00,-0.30:0.00,6.85:0.00,0.51:0.00,0.67:0.00,0.89:60,60:5.0,60.0:0,0:0,0:75,112:76,37:33,7:-,NM_138285.3(NUP35) c.539+250A>G:-,0.2:-,NOT_FOUND 2 184016838 . AACAC A 9 rn VT=DEL;SST=Single;DP=5;NP=7;Gene=NUP35/NM_001287584.1/1;CC=c.488+503_488+506delCACA;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.185+503_185+506delCACA;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.539+503_539+506delCACA;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AACAC,A:4:3:0:4:1,3:33,121:0.00,9.07:0.00,3.45:0.00,5.61:0.00,0.78:0.00,0.94:0.00,0.97:39,60:11.0,33.3:0,1:0,0:101,65:26,73:0,1:-,NM_138285.3(NUP35) c.539+462_539+465delACAC:-,NOT_FOUND:-,NOT_FOUND 2 184022242 . G . . NT END=184023010;NT GT ./. 2 184023140 . G . . NT END=184024215;NT GT ./. 2 184024026 rs7355427 T G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.05471,G/0.9453;Gene=NUP35/NM_001287584.1/1;CC=c.688-190T>G;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.385-190T>G;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.739-190T>G;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:G,T:11:11:0:0:5,6:147,173:13.79,0.00:13.79,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:31.4,33.0:0,0:0,0:82,62:69,76:40,34:NM_138285.3(NUP35) c.739-190T>G,-:0.93,-:NOT_FOUND,- 2 184024190 rs3748884 A G 100 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.8053,G/0.1947;PC=0.006;Gene=NUP35/NM_001287584.1/1;CC=c.688-26A>G;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.385-26A>G;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.739-26A>G;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:43:0:0:20,30:632,1004:0.00,100.07:0.00,79.68:0.00,20.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,37.5:0,0:0,0:39,45:111,98:25,23:-,NM_138285.3(NUP35) c.739-26A>G:-,0.21:-,0.219779 2 184024381 . G . . NT END=184025781;NT GT ./. 2 184024511 rs34967913 T C 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8433,C/0.1567;PC=0.001;Gene=NUP35/NM_001287584.1/1;CC=c.852+131T>C;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.549+131T>C;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.903+131T>C;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,T:13:0:0:0:9,4:289,118:29.69,0.00:0.00,0.00:29.69,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:44.1,8.2:0,0:0,0:91,50:60,100:36,41:NM_138285.3(NUP35) c.903+131T>C,-:0.16,-:NOT_FOUND,- 2 184024586 rs6434005 A T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1424,T/0.8576;Gene=NUP35/NM_001287584.1/1;CC=c.852+206A>T;VC=Intron;Gene=NUP35/NM_001287585.1/0;CC=c.549+206A>T;VC=Intron;Gene=NUP35/NM_138285.4/0;CC=c.903+206A>T;VC=Intron;Gene=NUP35/NR_109856.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,T,I:6:0:1:0:2,3,1:68,91,33:0.00,9.03,2.84:0.00,0.00,0.00:0.00,9.03,2.84:0.00,0.73,0.00:0.00,0.00,0.00:0.00,0.73,0.00:60,60,60:16.5,57.7,36.0:0,0,0:0,0,0:84,83,107:66,68,43:8,11,0:-,NM_138285.3(NUP35) c.903+206A>T:-,0.83:-,NOT_FOUND 2 184025860 . T . . NT END=185463686;NT GT ./. 2 184125573 rs898946 A G 166 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.1607,G/0.8393 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:26:0:0:46:1440:165.81:67.57:98.23:1.00:1.00:1.00:60:37.6:0:0:65:84:40:chr2 g.184125572A>G (intergenic),chr2 g.184125572A>G (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 184125985 rs1979359 A G 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.151,G/0.849;PC=0.170 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:6:0:0:11:377:42.95:13.62:29.33:1.00:1.00:1.00:60:47.5:0:0:101:48:26:chr2 g.184125984A>G (intergenic),chr2 g.184125984A>G (intergenic):0.87,0.87:NOT_FOUND,NOT_FOUND 2 184181089 rs10529251 TACACACACACACACAC T 17 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=61;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:TACACACACACACACAC,T:8:7:0:6:3,5:98,198:0.00,16.75:0.00,10.14:0.00,6.62:0.00,0.96:0.00,0.99:0.00,0.99:60,63:58.0,6.2:0,1:0,0:96,71:48,68:13,9:-,chr2 g.184181090_184181105delACACACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 184181121 rs112165774 C T 17 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:9:7:0:0:4,5:132,168:0.00,16.50:0.00,8.60:0.00,7.90:0.00,0.96:0.00,0.99:0.00,0.96:60,63:45.8,0.0:1,5:0,0:99,93:43,48:22,10:-,chr2 g.184181120C>T (intergenic):-,0.23:-,NOT_FOUND 2 184633674 rs71407054 T TCA 14 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=3;NP=46;NP=69;PC=0.001;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TCA:6:6:4:0:2,4:67,134:0.00,13.65:0.00,8.44:0.00,5.21:0.00,0.93:0.00,0.93:0.00,0.99:60,60:0.0,19.0:0,0:0,0:103,67:47,82:19,15:-,chr2 g.184633674_184633675insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 184657409 rs11533798 T C 12 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.351,C/0.649;PC=0.019 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:1:0:0:4:102:12.03:1.89:10.14:1.00:1.00:1.00:60:69.2:0:0:81:63:52:chr2 g.184657408T>C (intergenic),chr2 g.184657408T>C (intergenic):0.67,0.67:NOT_FOUND,NOT_FOUND 2 184668166 rs71011007 C CGTGT 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=86;PC=0.010;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,CGTGT:4:2:3:0:1,3:32,91:0.00,9.55:0.00,7.30:0.00,2.25:0.00,0.85:0.00,0.95:0.00,0.95:60,60:67.0,7.7:0,0:0,0:86,53:64,97:0,1:-,chr2 g.184668166_184668167insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 184742356 rs56275834 GGT G 6 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=47;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:GGT,G:3:5:0:5:1,2:36,131:0.00,6.34:0.00,-0.26:0.00,6.60:0.00,0.46:0.00,0.46:0.00,0.46:60,60:0.0,16.0:0,2:0,0:82,40:27,73:0,19:-,chr2 g.184742357_184742358delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 185415742 rs11414289 A ACACAC 15 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,ACACAC:6:4:5:0:1,5:34,142:0.00,15.40:0.00,9.09:0.00,6.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,107.4:0,0:0,0:144,71:1,73:0,6:-,chr2 g.185415742_185415743insCACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 185415744 rs370884600 T C 18 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=44 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:152:17.58:10.83:6.75:1.00:1.00:1.00:60:107.4:5:0:78:66:6:chr2 g.185415743T>C (intergenic),chr2 g.185415743T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 185415746 rs375243419 T C 16 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:3:0:0:5:136:15.92:8.97:6.95:1.00:1.00:1.00:60:107.4:5:0:80:64:6:chr2 g.185415745T>C (intergenic),chr2 g.185415745T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 185415747 . AT A 15 nt VT=DEL;SST=Single;DP=5;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:5:5:131:15.47:9.12:6.35:1.00:1.00:1.00:60:107.4:0:0:81:63:6:chr2 g.185415748delT (intergenic),chr2 g.185415748delT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 185415753 rs71430155 G A 17 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:151:17.48:8.54:8.94:1.00:1.00:1.00:60:107.4:5:0:86:58:6:chr2 g.185415752G>A (intergenic),chr2 g.185415752G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 185451547 . CAT C 6 rn VT=DEL;SST=Single;DP=4;NP=1;PC=0.006;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CAT,C:4:4:0:2:2,2:69,67:0.00,6.45:0.00,6.60:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:70,60:111.5,174.0:0,0:0,0:90,70:60,79:46,19:-,chr2 g.185451548_185451549delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 185463798 . G . . NT END=185731095;NT GT ./. 2 185463815 rs397787492 C CCT 25 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.6757,CCT/0.3243,CCTCT/.,CCTCTCT/.;DB;DBA=NA;PAF=C/0.6757,CCT/0.3243;NP=1453;Gene=ZNF804A/NM_194250.1/1;CC=c.111+32_111+33dupTC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCT,D:34:18:10:3:22,9,3:697,326,96:0.00,25.45,6.98:0.00,7.06,5.06:0.00,18.39,1.92:0.00,0.99,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:2.5,5.1,0.0:0,1,0:0,0,0:134,88,96:16,62,34:13,21,2:-,NM_194250.1(ZNF804A) c.111+18_111+19insCT:-,NOT_FOUND:-,NOT_FOUND 2 185501276 rs71011052 CTGTGTGTG C 14 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=10;PC=0.027;Gene=ZNF804A/NM_194250.1/1;CC=c.111+37513_111+37520delGTGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:7:4:215:13.74:3.68:10.05:0.90:0.93:0.99:60:26.5:3:0:60:61:17:NM_194250.1(ZNF804A) c.111+37480_111+37487delTGTGTGTG,NM_194250.1(ZNF804A) c.111+37480_111+37487delTGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 185731240 . G . . NT END=185798329;NT GT ./. 2 185798461 . G . . NT END=185800509;NT GT ./. 2 185798504 rs4667000 A C 190 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.5128,C/0.4872,T/.;Gene=ZNF804A/NM_194250.1/1;CC=c.386+44A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:17:0:0:51:1657:189.93:42.20:147.74:1.00:1.00:1.00:60:36.4:0:0:111:36:24:NM_194250.1(ZNF804A) c.386+44A>C,NM_194250.1(ZNF804A) c.386+44A>C:0.55,0.55:0.429132,0.429132 2 185800905 rs12476147 A T 446 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.3808,T/0.6192;Gene=ZNF804A/NM_194250.1/1;CC=c.782A>T;ProtCh=p.Q261L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:119:69:0:0:119:3892:445.64:211.02:234.62:1.00:1.00:1.00:60:37.1:0:0:80:61:41:NM_194250.1(ZNF804A) c.782A>T (p.Gln261Leu),NM_194250.1(ZNF804A) c.782A>T (p.Gln261Leu):0.66,0.66:0.577745,0.577745 2 185801747 rs4667001 G A 337 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.5098,A/0.4902;PC=0.494;Gene=ZNF804A/NM_194250.1/1;CC=c.1624G>A;ProtCh=p.E542K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:91:47:0:0:91:2941:337.43:135.85:201.58:1.00:1.00:1.00:60:67.7:0:0:84:63:37:NM_194250.1(ZNF804A) c.1624G>A (p.Glu542Lys),NM_194250.1(ZNF804A) c.1624G>A (p.Glu542Lys):0.56,0.56:0.43029,0.43029 2 185801755 rs4667002 A G 324 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.2133,G/0.7867;Gene=ZNF804A/NM_194250.1/1;CC=c.1632A>G;ProtCh=p.T544=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:91:50:0:0:91:2809:324.20:131.88:192.32:1.00:1.00:1.00:60:67.7:0:0:77:69:35:NM_194250.1(ZNF804A) c.1632A>G (p.(=)),NM_194250.1(ZNF804A) c.1632A>G (p.(=)):0.83,0.83:0.777416,0.777416 2 185801917 rs728534 A G 104 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.8407,G/0.1593;PC=1.000;Gene=ZNF804A/NM_194250.1/1;CC=c.1794A>G;ProtCh=p.K598=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:91:72:0:0:56,1,34:1756,10,1133:0.00,-0.16,103.62:0.00,-0.18,62.67:0.00,0.02,40.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.6,85.0,37.6:0,0,0:0,0,0:61,86,74:81,65,71:42,0,42:-,NM_194250.1(ZNF804A) c.1794A>G (p.(=)):-,0.17:-,0.14344 2 185802211 rs5836928 C CACA 276 PASS VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.5096,CACA/0.4904;DB;DBA=NA;PAF=C/0.5096,CACA/0.4904;NP=2634;Gene=ZNF804A/NM_194250.1/1;CC=c.2090_2092dupCAA;ProtCh=p.T697_I698insT;VC=InFrameIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,CACA:88:49:78:0:10,78:268,2517:0.00,275.53:0.00,124.05:0.00,151.48:0.00,1.00:0.00,1.00:0.00,1.00:60,70:15.1,28.9:1,0:0,0:144,79:4,72:3,35:-,NM_194250.1(ZNF804A) c.2090_2092dupCAA (p.Thr697dup):-,NOT_FOUND:-,0.42872 2 185802243 rs1366842 C A 333 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.51,A/0.49;Gene=ZNF804A/NM_194250.1/1;CC=c.2120C>A;ProtCh=p.T707K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:54:0:0:90:2897:332.55:162.42:170.13:1.00:1.00:1.00:70:42.1:0:0:62:84:41:NM_194250.1(ZNF804A) c.2120C>A (p.Thr707Lys),NM_194250.1(ZNF804A) c.2120C>A (p.Thr707Lys):0.56,0.56:0.428835,0.428835 2 185802363 rs12477430 A G 398 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=A/0.2957,G/0.7043;Gene=ZNF804A/NM_194250.1/1;CC=c.2240A>G;ProtCh=p.H747R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:111:75:0:0:1,110:12,3481:0.00,398.41:0.00,225.40:0.00,173.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,40.1:0,0:0,0:13,61:138,89:0,37:NM_194250.1(ZNF804A) c.2240A>G (p.His747Arg),NM_194250.1(ZNF804A) c.2240A>G (p.His747Arg):0.74,0.74:0.684635,0.684635 2 185803364 rs3731834 C G 204 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.8456,G/0.1544;PC=0.686;Gene=ZNF804A/NM_194250.1/1;CC=c.3241C>G;ProtCh=p.L1081V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:130:78:0:0:64,66:2202,2115:0.00,203.80:0.00,77.21:0.00,126.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,40.4:0,0:0,0:72,74:67,73:36,34:-,NM_194250.1(ZNF804A) c.3241C>G (p.Leu1081Val):-,0.15:-,0.139397 2 185803754 . T . . NT END=186603354;NT GT ./. 2 186052086 rs561199430 TTGTG T 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=82;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:TTGTG,T:4:1:0:3:1,3:29,91:0.00,9.55:0.00,-0.60:0.00,10.15:0.00,0.85:0.00,0.83:0.00,0.99:60,70:0.0,23.3:0,0:0,0:134,53:17,97:0,42:-,chr2 g.186052087_186052090delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 186251217 rs201536559 CCT C 15 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=58;PC=0.003;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:5:4:128:14.71:12.92:1.79:1.00:1.00:1.00:60:12.0:0:0:31:93:3:chr2 g.186251218_186251219delCT (intergenic),chr2 g.186251218_186251219delCT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 186412592 rs4233785 G A 33 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4864,A/0.5136;PC=0.146 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:5:0:0:13,15:348,522:32.54,0.00:6.72,0.00:25.82,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:42.8,9.8:0,0:0,0:106,113:45,38:30,25:chr2 g.186412591G>A (intergenic),-:0.53,-:NOT_FOUND,- 2 186543730 rs3057708 A AACAC 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=119;NP=17;NP=47;PC=0.017;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:AACAC:2:4:4:0:2:126:7.05:5.26:1.79:0.51:0.51:0.67:60:22.5:2:0:51:97:40:chr2 g.186543730_186543731insACAC (intergenic),chr2 g.186543730_186543731insACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 186603721 . G . . NT END=186604072;NT GT ./. 2 186604199 . G . . NT END=186607859;NT GT ./. 2 186604491 rs2287410 A T 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1484,T/0.8516;Gene=LOC101927196/NR_110217.1/0;VC=NonCoding;Gene=FSIP2/NM_173651.2/1;CC=c.492+293A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:122:14.11:0.00:14.11:1.00:0.00:1.00:60:43.5:0:0:77:73:40:NM_173651.2(FSIP2) c.492+293A>T,NM_173651.2(FSIP2) c.492+293A>T:0.84,0.84:NOT_FOUND,NOT_FOUND 2 186608022 . G . . NT END=186609048;NT GT ./. 2 186609139 . G . . NT END=186610155;NT GT ./. 2 186610296 . G . . NT END=186611395;NT GT ./. 2 186610344 rs11884004 T G 106 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.4595,G/0.5405;Gene=FSIP2/NM_173651.2/1;CC=c.884+49T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:26:0:0:32,20:1060,608:106.22,0.00:35.13,0.00:71.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.2,6.8:0,0:0,0:103,116:45,29:23,22:NM_173651.2(FSIP2) c.884+49T>G,-:0.51,-:NOT_FOUND,- 2 186610388 rs17813736 G A 68 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.4597,A/0.5403;Gene=FSIP2/NM_173651.2/1;CC=c.884+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:34:7:0:0:20,13,1:681,398,10:68.04,0.00,0.08:9.83,0.00,-0.02:58.21,0.00,0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.1,8.1,31.0:0,0,0:0,0,0:109,107,55:41,44,96:32,28,0:NM_173651.2(FSIP2) c.884+93G>A,-:0.51,-:NOT_FOUND,- 2 186610585 rs11893024 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3698,A/0.6302;Gene=FSIP2/NM_173651.2/1;CC=c.884+290G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:42.2:0:0:82:68:1:NM_173651.2(FSIP2) c.884+290G>A,NM_173651.2(FSIP2) c.884+290G>A:0.61,0.61:NOT_FOUND,NOT_FOUND 2 186611538 . G . . NT END=186612039;NT GT ./. 2 186611566 rs6758484 C A 114 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.04473,A/0.9553;Gene=FSIP2/NM_173651.2/1;CC=c.1026+29C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:A:34:10:0:0:34:980:113.96:26.39:87.57:1.00:1.00:1.00:60:36.0:0:0:104:40:27:NM_173651.2(FSIP2) c.1026+29C>A,NM_173651.2(FSIP2) c.1026+29C>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 186611938 rs12618129 G A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4595,A/0.5405;Gene=FSIP2/NM_173651.2/1;CC=c.1027-102G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:8,12:250,350:22.99,0.00:23.10,0.00:-0.11,0.00:0.99,0.00:0.99,0.00:0.60,0.00:60,60:52.5,3.7:0,0:0,0:58,103:92,47:17,33:NM_173651.2(FSIP2) c.1027-102G>A,-:0.51,-:NOT_FOUND,- 2 186612151 . G . . NT END=186618448;NT GT ./. 2 186618253 rs2887761 A T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4595,T/0.5405;Gene=FSIP2/NM_173651.2/1;CC=c.1138-196A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,T:5:5:0:0:1,4:32,118:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,63.2:0,0:0,0:0,13:150,138:0,9:-,NM_173651.2(FSIP2) c.1138-196A>T:-,0.51:-,NOT_FOUND 2 186618570 . G . . NT END=186620918;NT GT ./. 2 186620789 rs10084180 T C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.04393,C/0.9561;Gene=FSIP2/NM_173651.2/1;CC=c.1259-130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:171:19.48:19.48:0.00:1.00:1.00:0.00:60:34.2:0:0:15:136:14:NM_173651.2(FSIP2) c.1259-130T>C,NM_173651.2(FSIP2) c.1259-130T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 186621006 . G . . NT END=186625714;NT GT ./. 2 186625670 rs550873864 TAA T,TAAA 15 idl,nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=6;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:22:TAA,TAAA,T:10:12:3:8:2,3,5:64,83,254:0.00,7.60,15.39:0.00,5.65,10.34:0.00,1.94,5.04:0.00,0.00,0.91:0.00,0.00,0.99:0.00,0.00,0.86:60,60,60:0.0,14.3,43.0:0,0,3:0,0,0:78,24,61:54,126,84:21,21,17:NM_173651.2(FSIP2) c.1346-44_1346-43delAA,NM_173651.2(FSIP2) c.1346-43dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 186625770 rs7562137 A G 36 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4597,G/0.5403;PC=0.385;Gene=FSIP2/NM_173651.2/1;CC=c.1401A>G;ProtCh=p.K467=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:17:0:0:14,12:465,380:0.00,35.92:0.00,17.93:0.00,17.99:0.00,1.00:0.00,1.00:0.00,1.00:70,60:11.9,44.9:0,0:0,0:78,57:69,84:41,12:-,NM_173651.2(FSIP2) c.1401A>G (p.(=)):-,0.51:-,NOT_FOUND 2 186625831 . G . . NT END=186626698;NT GT ./. 2 186625880 rs10170781 C G 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9107,G/0.08926;Gene=FSIP2/NM_173651.2/1;CC=c.1461+50C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,G:11:0:0:0:7,4:246,135:0.00,12.28:0.00,0.00:0.00,12.28:0.00,0.82:0.00,0.00:0.00,0.82:60,60:15.0,33.8:0,0:0,0:109,75:42,75:24,12:-,NM_173651.2(FSIP2) c.1461+50C>G:-,0.1:-,NOT_FOUND 2 186626745 . G . . NT END=186627909;NT GT ./. 2 186627943 rs17228441 T C 30 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4597,C/0.5403;PC=0.013;Gene=FSIP2/NM_173651.2/1;CC=c.1541T>C;ProtCh=p.I514T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:13:8:0:0:9,4:288,111:29.59,0.00:15.73,0.00:13.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,2.8:0,0:0,0:44,47:104,102:18,23:NM_173651.2(FSIP2) c.1541T>C (p.Ile514Thr),-:0.51,-:NOT_FOUND,- 2 186628017 . G . . NT END=186629228;NT GT ./. 2 186629293 . G . . NT END=186647431;NT GT ./. 2 186629349 rs1986166 G A 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4597,A/0.5403;Gene=FSIP2/NM_173651.2/1;CC=c.1678+57G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:A,G:16:6:0:0:11,5:333,162:34.22,0.00:8.43,0.00:25.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,20.0:0,0:0,0:125,105:26,38:14,8:NM_173651.2(FSIP2) c.1678+57G>A,-:0.51,-:NOT_FOUND,- 2 186647270 rs140906899 T TA 9 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8588,TA/0.1412;NP=31;Gene=FSIP2/NM_173651.2/1;CC=c.1679-161_1679-160insA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:T,TA:8:8:3:0:5,3:161,97:0.00,8.83:0.00,8.83:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:0.0,0.0:0,0:0,0:50,19:100,131:25,5:-,NM_173651.2(FSIP2) c.1679-162_1679-161insA:-,0.13:-,NOT_FOUND 2 186647490 . G . . NT END=186650978;NT GT ./. 2 186651016 . G . . NT END=186653369;NT GT ./. 2 186653546 rs3752671 G A 116 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.9119,A/0.08806;PC=0.588;Gene=FSIP2/NM_173651.2/1;CC=c.1950G>A;ProtCh=p.T650=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:58:0:0:37,39:1210,1207:115.81,0.00:60.80,0.00:55.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,10.0:0,0:0,0:86,62:56,88:30,32:NM_173651.2(FSIP2) c.1950G>A (p.(=)),-:0.1,-:NOT_FOUND,- 2 186654592 rs992822 A G 65 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.4597,G/0.5403;PC=0.636;Gene=FSIP2/NM_173651.2/1;CC=c.2996A>G;ProtCh=p.N999S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:38:0:0:37,22:1155,712:0.00,64.78:0.00,30.68:0.00,34.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.1,38.0:0,0:0,0:87,79:64,70:34,20:-,NM_173651.2(FSIP2) c.2996A>G (p.Asn999Ser):-,0.51:-,NOT_FOUND 2 186655726 rs10931199 G A 193 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.04333,A/0.9567;Gene=FSIP2/NM_173651.2/1;CC=c.4130G>A;ProtCh=p.R1377Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A:53:25:0:0:53:1677:192.82:72.03:120.79:1.00:1.00:1.00:60:43.1:0:0:95:56:28:NM_173651.2(FSIP2) c.4130G>A (p.Arg1377Gln),NM_173651.2(FSIP2) c.4130G>A (p.Arg1377Gln):0.95,0.95:NOT_FOUND,NOT_FOUND 2 186656657 rs10173807 C T 213 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.3696,T/0.6304;PC=0.997;Gene=FSIP2/NM_173651.2/1;CC=c.5061C>T;ProtCh=p.N1687=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:G,T:60:34:0:0:1,59:14,1859:0.35,213.41:0.35,90.50:0.00,122.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:76.0,38.3:0,0:0,0:33,81:118,70:0,35:NM_173651.2(FSIP2) c.5061C>T (p.(=)),NM_173651.2(FSIP2) c.5061C>T (p.(=)):0.61,0.61:NOT_FOUND,NOT_FOUND 2 186656840 rs17815052 T C 82 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.8604,C/0.1396;PC=0.072;Gene=FSIP2/NM_173651.2/1;CC=c.5244T>C;ProtCh=p.N1748=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:33:0:0:27,29:863,875:82.36,0.00:38.76,0.00:43.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,7.9:0,0:0,0:75,62:72,74:34,33:NM_173651.2(FSIP2) c.5244T>C (p.(=)),-:0.13,-:NOT_FOUND,- 2 186656956 rs17229201 T C 81 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.4601,C/0.5399;PC=0.221;Gene=FSIP2/NM_173651.2/1;CC=c.5360T>C;ProtCh=p.M1787T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:32:0:0:27,28:847,868:80.94,0.00:39.88,0.00:41.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,8.3:0,0:0,0:78,72:72,66:31,49:NM_173651.2(FSIP2) c.5360T>C (p.Met1787Thr),-:0.51,-:NOT_FOUND,- 2 186657089 rs17229222 C A 84 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.4599,A/0.5401;Gene=FSIP2/NM_173651.2/1;CC=c.5493C>A;ProtCh=p.S1831=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:54:38:0:0:28,26:871,797:84.15,0.00:58.88,0.00:25.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,3.2:0,0:0,0:71,66:77,73:34,52:NM_173651.2(FSIP2) c.5493C>A (p.(=)),-:0.51,-:NOT_FOUND,- 2 186658056 rs60029104 G A 79 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.4619,A/0.5381;Gene=FSIP2/NM_173651.2/1;CC=c.6460G>A;ProtCh=p.D2154N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:40:0:0:26,38:853,1246:78.92,0.00:39.28,0.00:39.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,10.2:0,0:0,0:58,86:88,65:38,32:NM_173651.2(FSIP2) c.6460G>A (p.Asp2154Asn),-:0.51,-:NOT_FOUND,- 2 186658438 rs10490391 C T 126 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.4597,T/0.5403;Gene=FSIP2/NM_173651.2/1;CC=c.6842C>T;ProtCh=p.T2281M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:50:0:0:37,39:1084,1303:0.00,126.19:0.00,72.35:0.00,53.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,38.3:0,0:0,0:101,80:45,66:35,31:-,NM_173651.2(FSIP2) c.6842C>T (p.Thr2281Met):-,0.51:-,NOT_FOUND 2 186658565 rs10490392 G T 90 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.4597,T/0.5403;Gene=FSIP2/NM_173651.2/1;CC=c.6969G>T;ProtCh=p.E2323D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:65:39:0:0:35,30:1204,953:0.00,90.09:0.00,37.11:0.00,52.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,37.3:0,0:0,0:80,67:67,83:27,31:-,NM_173651.2(FSIP2) c.6969G>T (p.Glu2323Asp):-,0.51:-,NOT_FOUND 2 186659359 rs2161036 G T 96 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.4597,T/0.5403;PC=0.175;Gene=FSIP2/NM_173651.2/1;CC=c.7763G>T;ProtCh=p.R2588M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:63:36:0:0:30,33:1004,995:0.00,96.17:0.00,42.04:0.00,54.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,37.1:0,0:0,0:81,69:69,81:35,29:-,NM_173651.2(FSIP2) c.7763G>T (p.Arg2588Met):-,0.51:-,NOT_FOUND 2 186661673 rs55938253 A G 120 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.4595,G/0.5405;PC=0.939;Gene=FSIP2/NM_173651.2/1;CC=c.10077A>G;ProtCh=p.L3359=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:44:0:0:33,37:976,1236:0.00,120.24:0.00,67.92:0.00,52.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.6,42.2:0,0:0,0:85,88:66,63:35,26:-,NM_173651.2(FSIP2) c.10077A>G (p.(=)):-,0.51:-,NOT_FOUND 2 186661877 rs182519742 A C 75 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.9988,C/0.001198;NP=7;PC=0.416;Gene=FSIP2/NM_173651.2/1;CC=c.10281A>C;ProtCh=p.L3427=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:75:47:0:0:50,25:1592,839:0.00,75.10:0.00,49.20:0.00,25.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,35.7:0,0:0,0:48,61:98,90:30,39:-,NM_173651.2(FSIP2) c.10281A>C (p.(=)):-,0.0014:-,NOT_FOUND 2 186662254 . G . . NT END=186664423;NT GT ./. 2 186664473 rs11686997 T C 48 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.4593,C/0.5407;PC=0.836;Gene=FSIP2/NM_173651.2/1;CC=c.10707T>C;ProtCh=p.Y3569=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:38:0:0:16,30:536,959:48.35,0.00:28.61,0.00:19.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,8.7:0,0:0,0:75,56:72,89:23,36:NM_173651.2(FSIP2) c.10707T>C (p.(=)),-:0.51,-:NOT_FOUND,- 2 186664963 rs10931200 C A 170 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.4595,A/0.5405;Gene=FSIP2/NM_173651.2/1;CC=c.11197C>A;ProtCh=p.L3733I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:80:51:0:0:53,27:1672,863:170.22,0.00:95.52,0.00:74.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,8.1:0,0:0,0:71,82:77,69:34,37:NM_173651.2(FSIP2) c.11197C>A (p.Leu3733Ile),-:0.51,-:NOT_FOUND,- 2 186665432 rs36004074 G A 116 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.4595,A/0.5405;PC=0.116;Gene=FSIP2/NM_173651.2/1;CC=c.11666G>A;ProtCh=p.G3889E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:50:0:0:37,39:1212,1285:115.99,0.00:63.85,0.00:52.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,6.9:0,0:0,0:64,92:87,59:29,31:NM_173651.2(FSIP2) c.11666G>A (p.Gly3889Glu),-:0.51,-:NOT_FOUND,- 2 186665824 rs11695215 A G 68 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.4595,G/0.5405;PC=1.000;Gene=FSIP2/NM_173651.2/1;CC=c.12058A>G;ProtCh=p.N4020D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:51:42:0:0:29,1,21:908,12,730:0.00,0.02,68.24:0.00,0.09,37.71:0.00,-0.07,30.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.3,218.0,34.8:0,0,0:0,0,0:70,65,78:78,85,69:39,0,29:-,NM_173651.2(FSIP2) c.12058A>G (p.Asn4020Asp):-,0.51:-,NOT_FOUND 2 186667121 rs7605884 T C 95 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.4595,C/0.5405;PC=0.001;Gene=FSIP2/NM_173651.2/1;CC=c.13355T>C;ProtCh=p.F4452S;VC=Missense;DM=FSIP2/FSIP2;DM=FSIP2/FSIP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:39:0:0:30,30:984,954:94.63,0.00:52.33,0.00:42.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,4.9:0,0:0,0:62,83:88,56:32,43:NM_173651.2(FSIP2) c.13355T>C (p.Phe4452Ser),-:0.51,-:NOT_FOUND,- 2 186667360 rs7565527 A C 92 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.9103,C/0.08966;Gene=FSIP2/NM_173651.2/1;CC=c.13594A>C;ProtCh=p.I4532L;VC=Missense;DM=FSIP2/FSIP2;DM=FSIP2/FSIP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:61:35:0:0:31,30:1014,962:0.00,92.16:0.00,39.10:0.00,53.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.2,44.0:0,0:0,0:76,63:65,80:30,31:-,NM_173651.2(FSIP2) c.13594A>C (p.Ile4532Leu):-,0.1:-,NOT_FOUND 2 186670104 rs7576532 A C 227 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.04393,C/0.9561,G/.;PC=0.990;Gene=FSIP2/NM_173651.2/1;CC=c.16338A>C;ProtCh=p.E5446D;VC=Missense;DM=FSIP2/FSIP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:C,T:64:44:0:0:63,1:1975,25:226.95,1.21:127.27,1.21:99.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,163.0:0,0:0,0:65,0:79,151:42,0:NM_173651.2(FSIP2) c.16338A>C (p.Glu5446Asp),NM_173651.2(FSIP2) c.16338A>C (p.Glu5446Asp):0.95,0.95:0.978639,0.978639 2 186670780 rs16827154 T A 86 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.4956,A/0.5044;Gene=FSIP2/NM_173651.2/1;CC=c.17014T>A;ProtCh=p.Y5672N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:70:44:0:0:31,39:925,1213:86.37,0.00:43.08,0.00:43.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,3.9:0,0:0,0:61,78:87,73:45,27:NM_173651.2(FSIP2) c.17014T>A (p.Tyr5672Asn),-:0.48,-:0.512575,- 2 186670979 rs4666689 T C 94 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.1342,C/0.8658;Gene=FSIP2/NM_173651.2/1;CC=c.17213T>C;ProtCh=p.I5738T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:58:29:0:0:30,28:968,883:93.64,0.00:46.27,0.00:47.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,4.2:0,0:0,0:50,76:94,75:23,43:NM_173651.2(FSIP2) c.17213T>C (p.Ile5738Thr),-:0.85,-:0.862876,- 2 186671357 rs17826534 G A 74 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=G/0.4607,A/0.5393;PC=0.001;Gene=FSIP2/NM_173651.2/1;CC=c.17591G>A;ProtCh=p.R5864Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:48:0:0:27,42:811,1265:73.89,0.00:34.14,0.00:39.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,15.4:0,0:0,0:64,67:87,80:34,23:NM_173651.2(FSIP2) c.17591G>A (p.Arg5864Gln),-:0.51,-:0.542319,- 2 186671912 rs1862066 G A 82 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.4595,A/0.5405;PC=0.775;Gene=FSIP2/NM_173651.2/1;CC=c.18146G>A;ProtCh=p.R6049H;VC=Missense;DM=FSIP2/FSIP2;DM=FSIP2/FSIP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:56:0:0:28,48:903,1478:81.96,0.00:43.95,0.00:38.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,2.8:0,0:0,0:96,52:54,92:39,31:NM_173651.2(FSIP2) c.18146G>A (p.Arg6049His),-:0.51,-:0.543956,- 2 186672527 rs72900086 T A 108 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.859,A/0.141;Gene=FSIP2/NM_173651.2/1;CC=c.18761T>A;ProtCh=p.L6254Q;VC=Missense;DM=FSIP2/FSIP2;DM=FSIP2/FSIP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:56:33:0:0:34,22:1085,696:108.44,0.00:57.64,0.00:50.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,11.7:0,0:0,0:91,81:58,68:36,28:NM_173651.2(FSIP2) c.18761T>A (p.Leu6254Gln),-:0.13,-:0.202306,- 2 186673531 rs201482364 A G 103 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=19;Gene=FSIP2/NM_173651.2/1;CC=c.19765A>G;ProtCh=p.I6589V;VC=Missense;DM=FSIP2/FSIP2;DM=FSIP2/FSIP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:38:0:0:35,33:1107,1080:0.00,103.31:0.00,50.59:0.00,52.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,35.0:0,0:0,0:74,79:76,71:35,43:-,NM_173651.2(FSIP2) c.19765A>G (p.Ile6589Val):-,NOT_FOUND:-,0.002212 2 186673861 . G . . NT END=186678271;NT GT ./. 2 186678241 rs397872129 A AT 59 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.4595,AT/0.5405;DB;DBA=NA;PAF=A/0.4595,AT/0.5405;NP=2403;PC=0.003;Gene=FSIP2/NM_173651.2/1;CC=c.20095-27dupT;VC=Intron;DM=FSIP2/FSIP2;DM=FSIP2/FSIP2;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:41:32:20:0:21,20:693,615:0.00,58.70:0.00,41.34:0.00,17.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,19.9:0,0:0,0:44,54:100,82:30,27:-,NM_173651.2(FSIP2) c.20095-31_20095-30insT:-,0.51:-,0.538249 2 186678770 . G . . NT END=186680097;NT GT ./. 2 186678877 rs17230036 A G 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.9463,G/0.05371;Gene=FSIP2/NM_173651.2/1;CC=c.20592+108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:1:0:0:9,11:288,358:0.00,35.07:0.00,1.86:0.00,33.21:0.00,1.00:0.00,0.70:0.00,1.00:60,60:28.9,46.0:0,0:0,0:124,108:27,43:14,21:-,NM_173651.2(FSIP2) c.20592+108A>G:-,0.07:-,NOT_FOUND 2 186678887 rs2161035 T C 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4595,C/0.5405;Gene=FSIP2/NM_173651.2/1;CC=c.20592+118T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:0:0:0:9,10:283,305:26.90,0.00:0.00,0.00:26.90,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.4,47.3:0,0:0,0:120,117:30,33:20,20:NM_173651.2(FSIP2) c.20592+118T>C,-:0.51,-:NOT_FOUND,- 2 186679942 rs2287607 C G 10 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9101,G/0.08986;Gene=FSIP2/NM_173651.2/1;CC=c.20593-156C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:4:4:0:0:1,3:34,91:0.00,9.55:0.00,9.55:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:33.0,85.3:0,0:0,0:31,7:120,144:0,1:-,NM_173651.2(FSIP2) c.20593-156C>G:-,0.1:-,NOT_FOUND 2 186680041 rs2287606 G T 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4595,T/0.5405;Gene=FSIP2/NM_173651.2/1;CC=c.20593-57G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,G,T:12:11:0:0:1,5,6:14,132,184:0.65,0.00,17.97:0.67,0.00,10.48:-0.02,0.00,7.49:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:98.0,23.8,30.7:0,0,0:0,0,0:25,38,8:125,113,136:0,18,7:-,NM_173651.2(FSIP2) c.20593-57G>T:-,0.51:-,NOT_FOUND 2 186680199 . G . . NT END=186689160;NT GT ./. 2 186689208 . G . . NT END=186692882;NT GT ./. 2 186692859 . CT C 10 rn VT=DEL;SST=Single;DP=26;NP=47;PC=0.001;Gene=FSIP2/NM_173651.2/1;CC=c.20741-12delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:CT,C:26:21:0:4:22,4:742,126:0.00,9.66:0.00,6.13:0.00,3.53:0.00,0.67:0.00,0.93:0.00,0.86:60,70:8.7,0.0:0,0:0,0:64,47:84,88:31,24:-,NM_173651.2(FSIP2) c.20741-23delT:-,NOT_FOUND:-,NOT_FOUND 2 186692927 . G . . NT END=186696539;NT GT ./. 2 186696258 rs12612968 C G 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.04393,G/0.9561;Gene=FSIP2/NM_173651.2/1;CC=c.20785-282C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:208:24.09:24.09:0.00:1.00:1.00:0.00:60:82.0:0:0:20:131:12:NM_173651.2(FSIP2) c.20785-282C>G,NM_173651.2(FSIP2) c.20785-282C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 186696369 rs2302914 C G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.372,G/0.628;Gene=FSIP2/NM_173651.2/1;CC=c.20785-171C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:9:0:0:9:295:33.76:33.76:0.00:1.00:1.00:0.00:60:54.2:0:0:113:31:23:NM_173651.2(FSIP2) c.20785-171C>G,NM_173651.2(FSIP2) c.20785-171C>G:0.61,0.61:NOT_FOUND,NOT_FOUND 2 186696610 . G . . NT END=186697816;NT GT ./. 2 186697876 rs1468999 A G 138 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.04293,G/0.9571;PC=0.991;Gene=FSIP2/NM_173651.2/1;CC=c.20914A>G;ProtCh=p.T6972A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:27:0:0:35:1210:137.69:83.40:54.29:1.00:1.00:1.00:60:37.5:0:0:72:78:35:NM_173651.2(FSIP2) c.20914A>G (p.Thr6972Ala),NM_173651.2(FSIP2) c.20914A>G (p.Thr6972Ala):0.96,0.96:0.979439,0.979439 2 186697954 . A . . NT END=187351109;NT GT ./. 2 186880238 . GCA G,GCACA 7 idl,nt VT=INS;SST=Single;DP=8;NP=2;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:7:GCA,GCACA,G:4:8:4:3:1,2,1:27,139,103:0.00,6.63,2.92:0.00,3.31,1.41:0.00,3.31,1.51:0.00,0.37,0.00:0.00,0.37,0.00:0.00,0.69,0.00:60,70,60:0.0,13.5,41.0:0,2,2:0,0,0:131,64,47:20,85,104:0,22,6:chr2 g.186880239_186880240delCA (intergenic),chr2 g.186880239_186880240dupCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 186880341 rs12988820 A G 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.6679,G/0.3321;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,G:8:3:0:0:4,4:112,132:0.00,12.72:0.00,2.57:0.00,10.14:0.00,0.87:0.00,0.89:0.00,0.99:60,60:29.0,33.0:0,0:0,0:133,115:16,35:8,26:-,chr2 g.186880340A>G (intergenic):-,0.34:-,NOT_FOUND 2 187028923 rs534792225 GCA G 13 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GCA/0.2782,G/0.393;DB;DBA=NA;PAF=GCA/0.2782,G/0.393;NP=63;PC=0.013;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:5:4:111:12.99:5.72:7.28:1.00:1.00:1.00:60:21.8:0:0:48:103:41:chr2 g.187028924_187028925delCA (intergenic),chr2 g.187028924_187028925delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 187126499 rs376757133 TTG T 16 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TTG/0.6729,T/0.3271;NP=8;PC=1.000;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:TTG,T:8:9:0:6:3,5:86,191:0.00,15.85:0.00,13.21:0.00,2.64:0.00,0.96:0.00,0.96:0.00,0.99:60,60:8.3,24.0:0,1:0,0:82,41:38,99:17,9:-,chr2 g.187126500_187126501delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 187313641 . AAC A 10 rn VT=DEL;SST=Single;DP=4;NP=14;PC=0.044;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:AAC,A:4:2:0:3:1,3:12,100:0.00,10.48:0.00,3.70:0.00,6.78:0.00,0.85:0.00,0.95:0.00,0.85:56,60:0.0,7.3:0,0:0,0:120,75:22,76:0,25:-,chr2 g.187313642_187313643delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 187351185 . G . . NT END=187359959;NT GT ./. 2 187351344 rs3214710 C CTG 74 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=415;PC=0.001;Gene=ZC3H15/NM_018471.2/1;CC=c.75+161_75+162insGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,CTG:26:0:21:0:5,21:135,696:0.00,74.13:0.00,0.00:0.00,74.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.0,2.7:2,0:0,0:146,113:5,38:3,14:-,NM_018471.2(ZC3H15) c.75+160_75+161insTG:-,0.6:-,NOT_FOUND 2 187360062 . G . . NT END=187364908;NT GT ./. 2 187364811 rs4144786 G A 78 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.3952,A/0.6048;Gene=ZC3H15/NM_018471.2/1;CC=c.178-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:22:0:0:22:675:77.91:77.91:0.00:1.00:1.00:0.00:60:42.9:0:0:35:116:27:NM_018471.2(ZC3H15) c.178-98G>A,NM_018471.2(ZC3H15) c.178-98G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 187364878 rs4144785 A G 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.6735,G/0.3265;PC=0.686;Gene=ZC3H15/NM_018471.2/1;CC=c.178-31A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:36:0:0:24,18:740,576:0.00,53.73:0.00,37.24:0.00,16.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,47.2:0,0:0,0:52,48:94,98:20,30:-,NM_018471.2(ZC3H15) c.178-31A>G:-,0.34:-,0.310562 2 187365021 . G . . NT END=187365999;NT GT ./. 2 187366153 . G . . NT END=187367222;NT GT ./. 2 187366200 rs373302711 C T 96 nt VT=SNV;PN=T;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ZC3H15/NM_018471.2/1;CC=c.442+48C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:64:23:0:0:34,30:1012,1005:0.00,95.68:0.00,15.00:0.00,80.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,38.0:0,0:0,0:110,69:33,81:14,32:-,NM_018471.2(ZC3H15) c.442+48C>T:-,NOT_FOUND:-,0.000086 2 187367315 . G . . NT END=187368758;NT GT ./. 2 187367534 rs3768776 T C 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3952,C/0.6048;PC=0.006;Gene=ZC3H15/NM_018471.2/1;CC=c.534+220T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:181:20.96:0.00:20.96:1.00:0.00:1.00:60:33.5:0:0:112:38:27:NM_018471.2(ZC3H15) c.534+220T>C,NM_018471.2(ZC3H15) c.534+220T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 2 187368942 . G . . NT END=187370177;NT GT ./. 2 187369013 rs397801276 T TG 146 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3195;PC=1.000;Gene=ZC3H15/NM_018471.2/1;CC=c.717+76dupG;VC=Intron;DM=ZC3H15/DFRP_C;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:T,TG:51:14:44:0:7,44:212,1335:0.00,145.61:0.00,27.03:0.00,118.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.6,18.1:0,0:0,0:147,112:4,37:2,23:-,NM_018471.2(ZC3H15) c.717+72_717+73insG:-,1:-,NOT_FOUND 2 187369037 rs368068184 GA G 22 rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=GA/0.7969,G/0.2031;NP=207;PC=0.001;Gene=ZC3H15/NM_018471.2/1;CC=c.717+106delA;VC=Intron;DM=ZC3H15/DFRP_C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:30:2:1:9:2,18,1,9:50,577,33,256:3.08,0.00,2.04,22.40:0.00,0.00,0.00,4.13:3.08,0.00,2.04,18.27:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.59:0.00,0.00,0.00,1.00:60,60,60,60:46.5,13.6,31.0,21.1:0,0,0,0:0,0,0,0:35,105,117,76:116,45,34,73:35,30,0,46:-,NM_018471.2(ZC3H15) c.717+97delA:-,NOT_FOUND:-,NOT_FOUND 2 187370325 . G . . NT END=187370466;NT GT ./. 2 187370569 . G . . NT END=187371439;NT GT ./. 2 187370673 rs11690758 G C 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7993,C/0.2007;Gene=ZC3H15/NM_018471.2/1;CC=c.966+105G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:29:0:0:0:13,16:380,512:35.48,0.00:0.00,0.00:35.48,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.2,6.1:0,0:0,0:112,82:39,68:25,33:NM_018471.2(ZC3H15) c.966+105G>C,-:0.19,-:NOT_FOUND,- 2 187371564 . G . . NT END=187373269;NT GT ./. 2 187373054 rs11903027 G A 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7993,A/0.2007;Gene=ZC3H15/NM_018471.2/1;CC=c.1091-216G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:10:10:0:0:4,6:137,191:12.69,0.00:12.69,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:42.8,26.5:0,0:0,0:75,61:75,89:10,23:NM_018471.2(ZC3H15) c.1091-216G>A,-:0.19,-:NOT_FOUND,- 2 187373146 rs7558856 G A 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.02516,A/0.9748;Gene=ZC3H15/NM_018471.2/1;CC=c.1091-124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:444:51.45:51.45:0.00:1.00:1.00:0.00:60:49.3:0:0:73:78:30:NM_018471.2(ZC3H15) c.1091-124G>A,NM_018471.2(ZC3H15) c.1091-124G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 187373461 . C . . NT END=187455065;NT GT ./. 2 187417486 rs150918913 AACAC A 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:AACAC,A:6:5:0:4:3,3:97,99:0.00,9.52:0.00,4.66:0.00,4.86:0.00,0.73:0.00,0.96:0.00,0.51:60,60:9.0,35.3:0,0:0,0:32,42:77,109:14,10:-,chr2 g.187417487_187417490delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 187455251 . G . . NT END=187464931;NT GT ./. 2 187455278 rs9333287 C T 186 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.2939,T/0.7061;Gene=ITGAV/NM_001145000.2/0;CC=c.185+28C>T;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.185+28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:T:52:21:0:0:52:1613:185.87:55.23:130.64:1.00:1.00:1.00:60:46.4:0:0:101:48:32:NM_002210.3(ITGAV) c.185+28C>T,NM_002210.3(ITGAV) c.185+28C>T:0.72,0.72:0.707032,0.707032 2 187465109 . G . . NT END=187466747;NT GT ./. 2 187466879 . G . . NT END=187487065;NT GT ./. 2 187487158 . G . . NT END=187490199;NT GT ./. 2 187487160 rs9333288 G A 107 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.2374,A/0.7626;PC=1.000;Gene=ITGAV/NM_001145000.2/0;CC=c.408+3G>A;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.408+3G>A;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.270+3G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:16:0:0:29:934:107.23:37.67:69.56:1.00:1.00:1.00:60:35.8:0:0:105:32:21:NM_002210.3(ITGAV) c.408+3G>A,NM_002210.3(ITGAV) c.408+3G>A:0.76,0.76:0.757497,0.757497 2 187490315 . G . . NT END=187495523;NT GT ./. 2 187490371 rs2197787 T G 118 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.2967,G/0.7033;PC=0.001;Gene=ITGAV/NM_001145000.2/0;CC=c.523+57T>G;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.523+57T>G;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.385+57T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G:31:7:0:0:31:1031:117.83:19.98:97.84:1.00:1.00:1.00:60:75.8:0:0:100:36:28:NM_002210.3(ITGAV) c.523+57T>G,NM_002210.3(ITGAV) c.523+57T>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 187490389 rs5836987 G T 97 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.2598,GT/0.5637,GTAT/0.00599;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2598,T/0.1705;NP=1044;NP=5;Gene=ITGAV/NM_001145000.2/0;CC=c.523+75G>T;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.523+75G>T;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.385+75G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G,T:27:5:0:0:1,26:11,859:0.00,96.68:0.00,8.41:0.00,88.27:0.00,1.00:0.00,1.00:0.00,1.00:60,70:47.0,82.0:0,0:0,0:149,106:2,37:0,27:NM_002210.3(ITGAV) c.523+75G>T,NM_002210.3(ITGAV) c.523+75G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 187490405 rs72903183 T TGTGTGTGTGA 39 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.4089,TGA/0.5629,TGTGTGA/.,TGTGTGTGA/.,TGTGTGTGTGA/.;DB;DBA=NA;PAF=T/0.4089,TGA/0.5629;DB;DBA=NA;PAF=T/0.4089,A/0.02815;NP=11;NP=491;NP=5;Gene=ITGAV/NM_001145000.2/0;CC=c.523+92_523+93insTGTGTGTGAG;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.523+92_523+93insTGTGTGTGAG;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.385+92_385+93insTGTGTGTGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TGTGTGTGTGA:21:2:13:0:9,12:289,424:0.00,38.58:0.00,5.07:0.00,33.51:0.00,1.00:0.00,0.83:0.00,1.00:60,70:94.9,78.2:0,1:0,0:134,91:2,59:5,16:-,NM_002210.3(ITGAV) c.523+91_523+92insGTGTGTGTGA:-,NOT_FOUND:-,NOT_FOUND 2 187495586 . G . . NT END=187498055;NT GT ./. 2 187498102 . G . . NT END=187500808;NT GT ./. 2 187498107 rs9333289 T C 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8205,C/0.1795;PC=0.692;Gene=ITGAV/NM_001145000.2/0;CC=c.524-2702T>C;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.631+6T>C;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.493+6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:16:0:0:13,11:401,336:39.10,0.00:21.81,0.00:17.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,0.0:0,0:0,0:86,108:65,43:23,23:NM_002210.3(ITGAV) c.631+6T>C,-:0.18,-:0.205059,- 2 187500935 . G . . NT END=187501791;NT GT ./. 2 187501682 rs56136540 G A 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3111,A/0.6889;Gene=ITGAV/NM_001145000.2/0;CC=c.650-110G>A;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.758-110G>A;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.620-110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,G:15:14:0:0:6,9:188,280:17.28,0.00:17.50,0.00:-0.22,0.00:0.96,0.00:1.00,0.00:0.60,0.00:60,60:36.0,8.8:0,0:0,0:69,47:82,104:41,26:NM_002210.3(ITGAV) c.758-110G>A,-:0.71,-:NOT_FOUND,- 2 187501837 . G . . NT END=187503003;NT GT ./. 2 187503048 . G . . NT END=187503135;NT GT ./. 2 187503193 . G . . NT END=187505641;NT GT ./. 2 187503226 rs4667108 T C 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5032,C/0.4968;PC=0.003;Gene=ITGAV/NM_001145000.2/0;CC=c.795+34T>C;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.903+34T>C;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.765+34T>C;VC=Intron;DM=ITGAV/FG-GAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:10:0:0:11,7:331,225:33.03,0.00:12.75,0.00:20.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,2.9:0,0:0,0:80,95:70,56:44,42:NM_002210.3(ITGAV) c.903+34T>C,-:0.53,-:0.406005,- 2 187503358 rs397872781 CGT C 8 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CGT/0.4585,C/0.5415;DB;DBA=NA;PAF=NA;NP=32;PC=0.766;Gene=ITGAV/NM_001145000.2/0;CC=c.795+205_795+206delGT;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.903+205_903+206delGT;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.765+205_765+206delGT;VC=Intron;DM=ITGAV/FG-GAP;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CGT,I,C:10:2:1:3:6,1,3:181,32,92:0.00,2.40,8.13:0.00,-0.02,1.55:0.00,2.43,6.58:0.00,0.00,0.62:0.00,0.00,0.59:0.00,0.00,0.62:60,60,60:5.3,11.0,0.0:0,0,0:0,0,0:124,83,25:26,68,126:11,0,0:-,NM_002210.3(ITGAV) c.903+167_903+168delGT:-,NOT_FOUND:-,NOT_FOUND 2 187505486 rs3816375 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5164,G/0.4836;Gene=ITGAV/NM_001145000.2/0;CC=c.796-156A>G;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.904-156A>G;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.766-156A>G;VC=Intron;DM=ITGAV/FG-GAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G:4:4:0:0:1,3:35,90:0.00,9.45:0.00,7.63:0.00,1.83:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,33.3:0,0:0,0:137,34:11,117:0,17:-,NM_002210.3(ITGAV) c.904-156A>G:-,0.53:-,NOT_FOUND 2 187505695 . G . . NT END=187506112;NT GT ./. 2 187506316 . G . . NT END=187511412;NT GT ./. 2 187511605 . G . . NT END=187514566;NT GT ./. 2 187514613 . G . . NT END=187516708;NT GT ./. 2 187516817 . G . . NT END=187519376;NT GT ./. 2 187519338 rs9333290 G T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.8516,T/0.1484;PC=0.027;Gene=ITGAV/NM_001145000.2/0;CC=c.1398-39G>T;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.1506-39G>T;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.1368-39G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:15:10:0:0:8,7:270,227:0.00,21.54:0.00,10.42:0.00,11.12:0.00,0.99:0.00,1.00:0.00,1.00:60,60:13.1,42.0:0,0:0,0:52,49:93,101:21,32:-,NM_002210.3(ITGAV) c.1506-39G>T:-,0.16:-,0.198148 2 187519436 . G . . NT END=187520973;NT GT ./. 2 187520774 rs1031295 A G 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ITGAV/NM_001145000.2/0;CC=c.1457-200A>G;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.1565-200A>G;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.1427-200A>G;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:6:0:0:7:242:27.54:23.56:3.98:1.00:1.00:1.00:60:61.6:0:0:56:87:17:NM_002210.3(ITGAV) c.1565-200A>G,NM_002210.3(ITGAV) c.1565-200A>G:1,1:NOT_FOUND,NOT_FOUND 2 187521129 . G . . NT END=187523764;NT GT ./. 2 187521260 rs3738919 C A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7782,A/0.2218;PC=0.020;Gene=ITGAV/NM_001145000.2/0;CC=c.1611+132C>A;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.1719+132C>A;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.1581+132C>A;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,C:16:1:0:0:6,10:193,304:17.57,0.00:-0.10,0.00:17.67,0.00:0.95,0.00:0.58,0.00:0.95,0.00:60,60:36.0,5.9:0,0:0,0:92,110:58,40:10,29:NM_002210.3(ITGAV) c.1719+132C>A,-:0.21,-:NOT_FOUND,- 2 187523903 . G . . NT END=187528494;NT GT ./. 2 187528563 . G . . NT END=187529220;NT GT ./. 2 187528635 rs3816386 A G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7394,G/0.2606;Gene=ITGAV/NM_001145000.2/0;CC=c.1817+73A>G;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.1925+73A>G;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.1787+73A>G;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:12:2:0:0:6,6:190,185:0.00,17.74:0.00,1.59:0.00,16.15:0.00,0.98:0.00,0.79:0.00,1.00:60,60:15.3,38.8:0,0:0,0:132,60:12,89:14,52:-,NM_002210.3(ITGAV) c.1925+73A>G:-,0.25:-,NOT_FOUND 2 187528695 rs55767908 A G 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9371,G/0.0629;PC=0.002;Gene=ITGAV/NM_001145000.2/0;CC=c.1817+133A>G;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.1925+133A>G;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.1787+133A>G;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:7:1:0:0:4,3:132,90:0.00,8.35:0.00,3.61:0.00,4.74:0.00,0.69:0.00,0.62:0.00,0.95:60,60:41.2,43.3:0,0:0,0:70,57:79,94:2,37:-,NM_002210.3(ITGAV) c.1925+133A>G:-,0.07:-,NOT_FOUND 2 187529369 . G . . NT END=187529852;NT GT ./. 2 187529652 rs2595393 T A 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.006589,A/0.9934;Gene=ITGAV/NM_001145000.2/0;CC=c.1966-201T>A;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2074-201T>A;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.1936-201T>A;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:5:0:0:9:285:32.79:18.68:14.11:1.00:1.00:1.00:60:53.2:0:0:82:69:37:NM_002210.3(ITGAV) c.2074-201T>A,NM_002210.3(ITGAV) c.2074-201T>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 187529823 rs562839589 AT A 11 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;Gene=ITGAV/NM_001145000.2/0;CC=c.1966-13delT;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2074-13delT;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.1936-13delT;VC=Intron;DM=ITGAV/Integrin_alpha2;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:AT,A:12:14:0:8:8,4:265,245:0.00,11.20:0.00,8.28:0.00,2.93:0.00,0.75:0.00,0.96:0.00,0.37:60,60:32.0,85.2:0,4:0,0:38,73:99,77:33,11:-,NM_002210.3(ITGAV) c.2074-29delT:-,NOT_FOUND:-,NOT_FOUND 2 187529946 . G . . NT END=187531430;NT GT ./. 2 187531511 . G . . NT END=187531876;NT GT ./. 2 187531856 rs370380141 G GT 7 rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=13;Gene=ITGAV/NM_001145000.2/0;CC=c.2139-10dupT;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2247-10dupT;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.2109-10dupT;VC=Intron;DM=ITGAV/Integrin_alpha2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:G,GT,D:36:32:3:1:32,3,1:1037,98,32:0.00,6.79,1.73:0.00,5.82,1.86:0.00,0.97,-0.12:0.00,0.39,0.00:0.00,0.84,0.00:0.00,0.66,0.00:60,60,60:16.6,2.7,13.0:0,0,0:0,0,0:54,63,42:94,88,109:36,34,0:-,NM_002210.3(ITGAV) c.2247-21_2247-20insT:-,NOT_FOUND:-,NOT_FOUND 2 187531958 . G . . NT END=187532397;NT GT ./. 2 187532010 rs41265951 G T 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6156,T/0.3844;PC=0.001;Gene=ITGAV/NM_001145000.2/0;CC=c.2219+53G>T;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2327+53G>T;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.2189+53G>T;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:8:0:0:10,12:335,397:0.00,38.84:0.00,9.81:0.00,29.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,33.1:0,0:0,0:103,106:46,44:17,21:-,NM_002210.3(ITGAV) c.2327+53G>T:-,0.43:-,0.322383 2 187532417 rs2230616 G A 103 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.007788,A/0.9922;NP=3482;PC=1.000;Gene=ITGAV/NM_001145000.2/0;CC=c.2239G>A;ProtCh=p.V747I;VC=Missense;Gene=ITGAV/NM_002210.4/0;CC=c.2347G>A;ProtCh=p.V783I;VC=Missense;Gene=ITGAV/NM_001144999.2/1;CC=c.2209G>A;ProtCh=p.V737I;VC=Missense;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:24:0:0:29:894:103.09:67.21:35.88:1.00:1.00:1.00:60:35.8:0:0:55:95:19:NM_002210.3(ITGAV) c.=,NM_002210.3(ITGAV) c.=:0.99,0.99:0.99085,0.99085 2 187532504 . G . . NT END=187533488;NT GT ./. 2 187533368 rs11685758 C T 37 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7408,T/0.2592;Gene=ITGAV/NM_001145000.2/0;CC=c.2326-121C>T;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2434-121C>T;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.2296-121C>T;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:21:0:0:9,13:293,377:0.00,37.34:0.00,36.10:0.00,1.24:0.00,1.00:0.00,1.00:0.00,0.94:60,60:4.4,41.8:0,0:0,0:48,40:103,111:18,31:-,NM_002210.3(ITGAV) c.2434-121C>T:-,0.25:-,NOT_FOUND 2 187533648 . G . . NT END=187534427;NT GT ./. 2 187533741 rs2290083 T C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.5877,C/0.4123;PC=0.036;Gene=ITGAV/NM_001145000.2/0;CC=c.2484+94T>C;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2592+94T>C;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.2454+94T>C;VC=Intron;DM=ITGAV/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:19:4:0:0:1,8,10:10,277,283:0.14,26.16,0.00:-0.04,5.05,0.00:0.18,21.11,0.00:0.00,0.99,0.00:0.00,0.89,0.00:0.00,1.00,0.00:60,60,60:20.0,54.9,3.4:0,0,0:0,0,0:23,116,104:128,35,46:0,10,31:NM_002210.3(ITGAV) c.2592+94T>C,-:0.46,-:NOT_FOUND,- 2 187534542 . G . . NT END=187540330;NT GT ./. 2 187540445 . G . . NT END=187540546;NT GT ./. 2 187540655 . G . . NT END=187541539;NT GT ./. 2 187540732 rs3213964 G A 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5607,A/0.4393;Gene=ITGAV/NM_001145000.2/0;CC=c.2820+78G>A;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2928+78G>A;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.2790+78G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:1:0:0:7,10:202,346:18.52,0.00:3.39,0.00:15.13,0.00:0.98,0.00:0.61,0.00:1.00,0.00:60,60:32.1,0.0:0,0:0,0:106,100:45,51:28,25:NM_002210.3(ITGAV) c.2928+78G>A,-:0.38,-:NOT_FOUND,- 2 187541318 rs12620821 G A 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5615,A/0.4385;PC=0.172;Gene=ITGAV/NM_001145000.2/0;CC=c.2821-222G>A;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2929-222G>A;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.2791-222G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,G:11:11:0:0:6,5:177,160:17.25,0.00:17.25,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:65.8,2.8:0,0:0,0:64,82:86,69:40,13:NM_002210.3(ITGAV) c.2929-222G>A,-:0.4,-:NOT_FOUND,- 2 187541377 rs35251833 G A 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.761,A/0.239;Gene=ITGAV/NM_001145000.2/0;CC=c.2821-163G>A;VC=Intron;Gene=ITGAV/NM_002210.4/0;CC=c.2929-163G>A;VC=Intron;Gene=ITGAV/NM_001144999.2/1;CC=c.2791-163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:9,8:286,261:27.79,0.00:24.24,0.00:3.55,0.00:1.00,0.00:1.00,0.00:0.82,0.00:60,60:62.3,1.8:0,0:0,0:49,53:102,97:28,43:NM_002210.3(ITGAV) c.2929-163G>A,-:0.23,-:NOT_FOUND,- 2 187541663 . G . . NT END=187541923;NT GT ./. 2 187542020 . C . . NT END=187558900;NT GT ./. 2 187559029 rs56669143 A ACAGCAG 443 idl VT=INS;SST=Single;DP=220;DB;DBA=NA;PAF=A/0.6378,ACAG/0.1895,ACAGCAG/0.1727,ACAGCAGCAG/.,ACAGCAGCAGCAG/.,ACAGCAGCAGCAGCAG/.;DB;DBA=NA;PAF=NA;NP=4;NP=488;PC=1.000;Gene=FAM171B/NM_177454.3/1;CC=c.149_150insGCAGCA;ProtCh=p.Q56_K57insQQ;VC=InFrameIns;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,ACAGCAG:200:135:152:0:67,1,132:2119,13,4857:0.00,-0.04,443.41:0.00,-0.06,226.86:0.00,0.02,216.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:13.7,147.0,6.1:2,0,20:0,0,0:124,149,75:20,2,74:15,0,22:-,NM_177454.3(FAM171B) c.132GCA[8] (p.Gln43[16]):-,NOT_FOUND:-,NOT_FOUND 2 187559139 . G . . NT END=187604954;NT GT ./. 2 187559222 rs6705757 T G 250 nt VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.5573,G/0.4427;PC=0.005;Gene=FAM171B/NM_177454.3/1;CC=c.238+84T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:G,T:67:15:0:0:66,1:2199,11:249.52,0.00:33.00,0.00:216.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,64.0:0,0:0,0:106,32:43,101:26,0:NM_177454.3(FAM171B) c.238+84T>G,NM_177454.3(FAM171B) c.238+84T>G:0.42,0.42:NOT_FOUND,NOT_FOUND 2 187604696 rs2122178 T C 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.009784,C/0.9902;NP=100;PC=0.642;Gene=FAM171B/NM_177454.3/1;CC=c.239-259T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:46.2:0:0:21:129:10:NM_177454.3(FAM171B) c.239-259T>C,NM_177454.3(FAM171B) c.239-259T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 187605189 . G . . NT END=187608209;NT GT ./. 2 187608303 . G . . NT END=187611818;NT GT ./. 2 187611748 rs2247924 G A 143 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.06849,A/0.9315;Gene=FAM171B/NM_177454.3/1;CC=c.566-71G>A;VC=Intron;DM=FAM171B/UPF0560 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:36:0:0:41:1236:142.97:114.80:28.17:1.00:1.00:1.00:60:35.8:0:0:45:101:21:NM_177454.3(FAM171B) c.566-71G>A,NM_177454.3(FAM171B) c.566-71G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 187611978 . G . . NT END=187615860;NT GT ./. 2 187616032 . G . . NT END=187618659;NT GT ./. 2 187618777 . G . . NT END=187625839;NT GT ./. 2 187625964 . G . . NT END=187626205;NT GT ./. 2 187626338 rs13026081 C T 141 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.8347,T/0.1653;PC=0.006;Gene=FAM171B/NM_177454.3/1;CC=c.1269C>T;ProtCh=p.D423=;VC=Silent;DM=FAM171B/UPF0560 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:61:0:0:44,47:1486,1460:0.00,140.98:0.00,68.94:0.00,72.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.1,43.7:0,0:0,0:65,74:82,72:32,29:-,NM_177454.3(FAM171B) c.1269C>T (p.(=)):-,0.17:-,0.220735 2 187627551 . C . . NT END=187692710;NT GT ./. 2 187693518 . C . . NT END=187694453;NT GT ./. 2 187694608 . C . . NT END=187697846;NT GT ./. 2 187697960 . C . . NT END=187698672;NT GT ./. 2 187698037 rs7609183 G A 110 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.003994,A/0.996;NP=2108;Gene=ZSWIM2/NM_182521.2/1;CC=c.829-78C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:4:0:0:30:957:109.96:7.50:102.45:1.00:1.00:1.00:60:34.0:0:0:88:62:38:NM_182521.2(ZSWIM2) c.829-78C>T,NM_182521.2(ZSWIM2) c.829-78C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 187698751 rs7559533 G A 37 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.8037,A/0.1963;PC=0.001;Gene=ZSWIM2/NM_182521.2/1;CC=c.750C>T;ProtCh=p.T250=;VC=Silent;DM=ZSWIM2/ZZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:27:0:0:12,24:408,763:36.57,0.00:16.88,0.00:19.70,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:36.0,1.0:0,0:0,0:90,92:38,49:16,27:NM_182521.2(ZSWIM2) c.750C>T (p.(=)),-:0.18,-:0.236891,- 2 187698758 . C . . NT END=187702032;NT GT ./. 2 187702282 . C . . NT END=187703685;NT GT ./. 2 187702339 rs72348328 GTA G 7 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=GTA/0.6919,G/0.3081;DB;DBA=NA;PAF=GTA/0.6919,G/0.3081;NP=68;Gene=ZSWIM2/NM_182521.2/1;CC=c.495-60_495-59delTA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:GTA,G:24:7:0:4:20,4:656,100:0.00,7.22:0.00,-0.32:0.00,7.54:0.00,0.96:0.00,0.68:0.00,0.96:60,60:9.3,21.8:0,0:0,0:106,76:25,74:37,8:-,NM_182521.2(ZSWIM2) c.495-60_495-59delTA:-,NOT_FOUND:-,NOT_FOUND 2 187703897 . C . . NT END=187709443;NT GT ./. 2 187709167 rs56201830 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7943,T/0.2057;Gene=ZSWIM2/NM_182521.2/1;CC=c.283+277G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:30.0,68.3:0,0:0,0:95,33:54,117:0,24:-,NM_182521.2(ZSWIM2) c.283+277G>A:-,0.2:-,NOT_FOUND 2 187709168 rs1349518 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.007987,G/0.992,T/.;NP=300;Gene=ZSWIM2/NM_182521.2/1;CC=c.283+276T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:58.8:0:0:60:89:31:NM_182521.2(ZSWIM2) c.283+276T>C,NM_182521.2(ZSWIM2) c.283+276T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 187709405 rs199505226 T TA 12 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=8;PC=0.014;Gene=ZSWIM2/NM_182521.2/1;CC=c.283+38dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:T,TA:37:31:5:0:32,5:1003,159:0.00,11.93:0.00,5.85:0.00,6.08:0.00,0.77:0.00,0.96:0.00,0.89:60,60:13.0,10.4:0,0:0,0:44,42:99,108:23,14:-,NM_182521.2(ZSWIM2) c.283+38_283+39insT:-,0.09:-,NOT_FOUND 2 187709485 . C . . NT END=187712445;NT GT ./. 2 187712523 . C . . NT END=187713692;NT GT ./. 2 187712724 rs6750068 A T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7939,T/0.2061;PC=0.002;Gene=ZSWIM2/NM_182521.2/1;CC=c.166-202T>A;VC=Intron;DM=ZSWIM2/SWIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,T:7:0:0:0:3,4:100,130:0.00,12.83:0.00,0.00:0.00,12.83:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,32.5:0,0:0,0:120,94:31,56:13,45:-,NM_182521.2(ZSWIM2) c.166-202T>A:-,0.2:-,NOT_FOUND 2 187713412 rs3114951 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2987,T/0.7013;Gene=ZSWIM2/NM_182521.2/1;CC=c.165+281G>A;VC=Intron;DM=ZSWIM2/SWIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T:4:4:0:0:1,3:10,98:0.00,10.30:0.00,10.30:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:144.0,66.7:0,0:0,0:34,26:117,125:0,22:-,NM_182521.2(ZSWIM2) c.165+281G>A:-,0.72:-,NOT_FOUND 2 187713858 . G . . NT END=188210910;NT GT ./. 2 187940720 rs72031874 AAGAAGAC A 14 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AAGAAGAC/0.5765,A/0.4235;DB;DBA=NA;PAF=AAGAAGAC/0.5765,A/0.4235;DB;DBA=NA;PAF=AAGAAGAC/0.5765,A/0.4235;NP=582;PC=0.607;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:4:4:125:14.41:12.87:1.54:1.00:1.00:1.00:60:2.0:0:0:45:93:25:chr2 g.187940721_187940727delAGAAGAC (intergenic),chr2 g.187940721_187940727delAGAAGAC (intergenic):0.44,0.44:NOT_FOUND,NOT_FOUND 2 187940803 rs71399206 C CTG 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7047,CTG/0.2953,CTGTG/.,CTGTGTG/.;NP=6;NP=7;NP=90;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CTG:5:3:3:0:2,3:68,93:0.00,9.27:0.00,3.46:0.00,5.81:0.00,0.78:0.00,0.94:0.00,0.78:60,60:0.0,12.0:0,0:0,0:74,22:54,129:26,4:-,chr2 g.187940803_187940804insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 187995307 . GCACA G 11 idl,rn VT=DEL;SST=Single;DP=5;NP=10;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:4:0:5:3:167:10.86:7.26:3.60:0.78:0.97:0.94:60:0.0:2:0:32:118:7:chr2 g.187995308_187995311delCACA (intergenic),chr2 g.187995308_187995311delCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 188006735 rs10661717 T TGTG 21 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2786,TG/.,TGTG/0.7214,TGTGTG/.,TT/.;NP=3;NP=39;NP=54;NP=9;PC=0.005;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TGTG:6:6:7:0:6:222:21.46:10.88:10.58:1.00:1.00:1.00:70:17.3:1:0:85:37:26:chr2 g.188006735_188006736insGTG (intergenic),chr2 g.188006735_188006736insGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 188140459 rs1609269 G A,GTA 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2025,A/0.7975;NP=1;NP=176;NP=4;NP=449;PC=0.083 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:62:A,GTA:5:1:3:0:2,3:64,84:6.56,9.16:0.00,1.58:6.56,7.58:0.00,0.78:0.00,0.73:0.00,0.78:60,70:72.5,42.3:0,0:0,0:100,22:31,128:27,13:chr2 g.188140458G>A (intergenic),chr2 g.188140459_188140460insTA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 188140491 rs62172535 A G 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6548,G/0.3452;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G:4:1:0:0:2,2:58,69:0.00,6.65:0.00,1.84:0.00,4.81:0.00,0.51:0.00,0.67:0.00,0.51:70,70:36.5,69.0:0,0:0,0:49,75:100,56:6,29:-,chr2 g.188140490A>G (intergenic):-,0.31:-,NOT_FOUND 2 188211127 . C . . NT END=188216646;NT GT ./. 2 188216689 . C . . NT END=188216840;NT GT ./. 2 188216783 rs858744 C T 63 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.7105,T/0.2895;Gene=CALCRL/NM_001271751.1/0;CC=c.1128+58G>A;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.1128+58G>A;VC=Intron;DM=CALCRL/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:41:31:0:0:1,19,21:8,635,649:-0.07,0.00,62.87:-0.15,0.00,36.63:0.08,0.00,26.25:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:153.0,27.7,65.4:0,0,0:0,0,0:86,96,43:65,54,107:0,33,35:-,NM_005795.4(CALCRL) c.1128+58G>A:-,0.28:-,NOT_FOUND 2 188216807 rs858745 T C 161 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.1733,C/0.8267;Gene=CALCRL/NM_001271751.1/0;CC=c.1128+34A>G;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.1128+34A>G;VC=Intron;DM=CALCRL/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C:45:29:0:0:45:1395:160.90:88.01:72.89:1.00:1.00:1.00:60:50.2:0:0:60:91:40:NM_005795.4(CALCRL) c.1128+34A>G,NM_005795.4(CALCRL) c.1128+34A>G:0.85,0.85:0.881498,0.881498 2 188217060 . C . . NT END=188223789;NT GT ./. 2 188217247 rs12475425 T C 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5663,C/0.4337;PC=0.004;Gene=CALCRL/NM_001271751.1/0;CC=c.910-188A>G;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.910-188A>G;VC=Intron;DM=CALCRL/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:C,T:6:0:0:0:4,2:124,63:12.65,0.00:0.00,0.00:12.65,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:31.0,0.0:0,0:0,0:105,141:45,9:23,8:NM_005795.4(CALCRL) c.910-188A>G,-:0.47,-:NOT_FOUND,- 2 188223857 . C . . NT END=188223938;NT GT ./. 2 188224000 . C . . NT END=188225324;NT GT ./. 2 188224009 . C CA 9 rn VT=INS;SST=Single;DP=48;NP=2;PC=0.002;Gene=CALCRL/NM_001271751.1/0;CC=c.782-11dupT;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.782-11dupT;VC=Intron;DM=CALCRL/7tm_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,C,T,CA,D:47:26:4:2:2,39,1,4,1:19,1081,7,133,55:-0.13,0.00,-0.27,9.43,1.65:-0.28,0.00,-0.14,3.53,1.30:0.15,0.00,-0.13,5.90,0.35:0.00,0.00,0.00,0.55,0.00:0.00,0.00,0.00,0.78,0.00:0.00,0.00,0.00,0.89,0.00:60,60,60,60,60:146.0,28.9,147.0,22.2,38.0:0,0,0,0,1:0,0,0,0,0:33,91,112,96,111:118,56,38,54,39:29,29,0,14,8:-,NM_005795.4(CALCRL) c.782-11_782-10insT:-,NOT_FOUND:-,NOT_FOUND 2 188224057 rs1706287 A G 133 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.1717,G/0.8283;PC=0.040;Gene=CALCRL/NM_001271751.1/0;CC=c.782-58T>C;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.782-58T>C;VC=Intron;DM=CALCRL/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:G:36:15:0:0:36:1158:132.94:31.50:101.43:1.00:1.00:1.00:60:48.1:0:0:86:59:35:NM_005795.4(CALCRL) c.782-58T>C,NM_005795.4(CALCRL) c.782-58T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 188225479 . C . . NT END=188228102;NT GT ./. 2 188227921 rs698582 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7099,G/0.2901;Gene=CALCRL/NM_001271751.1/0;CC=c.627+182T>C;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.627+182T>C;VC=Intron;DM=CALCRL/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G:9:9:0:0:3,6:60,186:0.00,19.01:0.00,19.01:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:79.3,39.8:0,0:0,0:59,103:92,46:21,18:-,NM_005795.4(CALCRL) c.627+182T>C:-,0.28:-,NOT_FOUND 2 188228230 . C . . NT END=188243666;NT GT ./. 2 188243633 rs3771084 A G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4529,G/0.5471;Gene=CALCRL/NM_001271751.1/0;CC=c.500+34T>C;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.500+34T>C;VC=Intron;DM=CALCRL/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:12:9:0:0:6,6:188,201:0.00,19.35:0.00,12.65:0.00,6.70:0.00,0.98:0.00,1.00:0.00,0.96:60,60:10.2,33.5:0,0:0,0:62,56:88,94:54,33:-,NM_005795.4(CALCRL) c.500+34T>C:-,0.58:-,0.51249 2 188243759 . C . . NT END=188245193;NT GT ./. 2 188245307 . C . . NT END=188245403;NT GT ./. 2 188245515 . C . . NT END=188247899;NT GT ./. 2 188245640 rs1511877 G A 44 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.03275,A/0.9673;Gene=CALCRL/NM_001271751.1/0;CC=c.185-126C>T;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.185-126C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:380:43.72:0.00:43.72:1.00:0.00:1.00:60:33.8:0:0:91:59:33:NM_005795.4(CALCRL) c.185-126C>T,NM_005795.4(CALCRL) c.185-126C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 188248033 . C . . NT END=188250271;NT GT ./. 2 188250301 rs698577 T A 111 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.000599,G/.,T/0.9994;NP=3447;Gene=CALCRL/NM_001271751.1/0;CC=c.22A>T;ProtCh=p.N8Y;VC=Missense;Gene=CALCRL/NM_005795.5/1;CC=c.22A>T;ProtCh=p.N8Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:24:0:0:30:967:110.95:66.15:44.80:1.00:1.00:1.00:60:38.0:0:0:82:64:29:NM_005795.4(CALCRL) c.=,NM_005795.4(CALCRL) c.=:1,1:0.998531,0.998531 2 188250356 . A . . NT END=188331662;NT GT ./. 2 188300596 rs59728362 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.003794,T/0.9962;DB;DBA=NA;PAF=NA;NP=1;NP=236;NP=8;Gene=CALCRL/NM_001271751.1/0;CC=c.-128+12170G>A;VC=Intron;Gene=CALCRL/NM_005795.5/1;CC=c.-293+12170G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:201:22.96:15.16:7.80:1.00:1.00:1.00:60:54.7:2:0:64:65:27:NM_005795.4(CALCRL) c.-293+12170G>A,NM_005795.4(CALCRL) c.-293+12170G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 188331770 . C . . NT END=188332479;NT GT ./. 2 188332660 . C . . NT END=188343304;NT GT ./. 2 188332692 rs8176592 A G 98 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.7005,G/0.2995;Gene=TFPI/NM_006287.4/1;CC=c.629-33T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:18:0:0:29,30:931,1014:0.00,97.96:0.00,15.95:0.00,82.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,38.8:0,0:0,0:91,106:57,37:29,25:-,NM_006287.4(TFPI) c.629-33T>C:-,0.29:-,0.338357 2 188332985 rs138198243 G GAC 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=129;Gene=TFPI/NM_006287.4/1;CC=c.629-327_629-326insGT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:G,GAC:8:5:4:0:4,4:112,126:0.00,12.10:0.00,7.74:0.00,4.36:0.00,0.87:0.00,0.96:0.00,0.96:60,60:13.8,15.8:0,0:0,0:65,93:48,57:50,6:-,NM_006287.4(TFPI) c.629-327_629-326insGT:-,NOT_FOUND:-,NOT_FOUND 2 188343497 rs7586970 T C 99 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.7183,C/0.2817,G/.;PC=1.000;Gene=TFPI/NM_006287.4/1;CC=c.628+5354A>G;VC=Intron;Gene=TFPI/NM_001032281.2/0;CC=c.662A>G;ProtCh=p.N221S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:31:0:0:31,29:1027,944:99.42,0.00:39.16,0.00:60.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,3.8:0,0:0,0:92,91:51,59:44,37:NM_006287.4(TFPI) c.628+5354A>G,-:0.27,-:0.322774,- 2 188343531 . C . . NT END=188348850;NT GT ./. 2 188348670 rs3213739 T G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.513,G/0.487;Gene=TFPI/NM_006287.4/1;CC=c.628+181A>C;VC=Intron;Gene=TFPI/NM_001032281.2/0;CC=c.628+181A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:G,T:11:11:0:0:5,6:139,180:12.98,0.00:12.98,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:37.2,5.0:0,0:0,0:76,32:74,118:40,17:NM_006287.4(TFPI) c.628+181A>C,-:0.52,-:NOT_FOUND,- 2 188348696 rs3217130 TAAAC T 10 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TAAAC/0.8055,T/0.1945;DB;DBA=NA;PAF=TAAAC/0.8055,T/0.1945;NP=330;Gene=TFPI/NM_006287.4/1;CC=c.628+151_628+154delGTTT;VC=Intron;Gene=TFPI/NM_001032281.2/0;CC=c.628+151_628+154delGTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:TAAAC,T:12:12:0:4:8,4:229,118:0.00,10.40:0.00,10.40:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:17.6,28.8:0,0:0,0:58,72:92,78:34,34:-,NM_006287.4(TFPI) c.628+151_628+154delGTTT:-,0.19:-,NOT_FOUND 2 188348944 . C . . NT END=188349537;NT GT ./. 2 188349715 . C . . NT END=188353063;NT GT ./. 2 188353103 . C . . NT END=188361607;NT GT ./. 2 188361806 . C . . NT END=188368374;NT GT ./. 2 188368189 rs59959078 T TAC 9 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=51;Gene=TFPI/NM_006287.4/1;CC=c.121+185_121+186insGT;VC=Intron;Gene=TFPI/NM_001032281.2/0;CC=c.121+185_121+186insGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:T,TAC,D:10:10:3:2:6,3,1:181,98,66:0.00,8.71,2.59:0.00,8.85,2.63:0.00,-0.14,-0.04:0.00,0.60,0.00:0.00,0.93,0.00:0.00,0.52,0.00:60,60,60:24.2,3.3,0.0:1,0,1:0,0,0:62,52,66:78,99,84:16,27,27:-,NM_006287.4(TFPI) c.121+185_121+186insGT:-,NOT_FOUND:-,NOT_FOUND 2 188368496 . C . . NT END=189342429;NT GT ./. 2 188501507 rs4667183 T C 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.1605,C/0.8395;PC=0.066 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:33:0:0:21,13:598,420:59.94,0.00:53.40,0.00:6.54,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:72.0,47.4:0,0:0,0:41,56:90,95:26,28:chr2 g.188501506T>C (intergenic),-:0.86,-:NOT_FOUND,- 2 188501566 rs4667184 T C 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.1605,C/0.8395;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:38:0:0:27,15:799,403:80.85,0.00:61.34,0.00:19.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.9,32.0:0,0:0,0:77,87:51,64:19,36:chr2 g.188501565T>C (intergenic),-:0.8,-:NOT_FOUND,- 2 188501582 . C T 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:41:37:0:0:35,6:994,166:0.00,12.08:0.00,5.23:0.00,6.86:0.00,0.87:0.00,0.99:0.00,0.87:60,60:57.8,122.8:0,0:0,0:77,130:58,20:25,10:-,chr2 g.188501581C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 188501586 . C T 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,C,T:41:37:0:0:4,34,3:90,1006,95:5.45,0.00,6.41:0.75,0.00,5.18:4.70,0.00,1.22:0.00,0.00,0.36:0.00,0.00,0.84:0.00,0.00,0.59:58,60,60:141.8,51.4,121.0:0,0,0:0,0,0:107,75,114:23,57,16:31,31,8:-,chr2 g.188501585C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 188501597 . A T 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C,G,T:41:36:0:1:33,2,1,5:965,20,11,115:0.00,0.04,-0.09,7.61:0.00,0.24,0.01,3.77:0.00,-0.20,-0.10,3.84:0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.79:60,60,60,60:65.5,50.5,92.0,138.4:0,0,0,0:0,0,0,0:68,129,108,117:67,18,43,20:38,17,0,26:-,chr2 g.188501596A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 188501749 rs4667185 G A 119 nt VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=G/0.3131,A/0.6869;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:114:93:0:0:46,3,65:1294,30,1731:118.72,-0.02,0.00:67.82,0.16,0.00:50.90,-0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:69.8,101.0,47.2:0,0,0:0,0,0:73,58,75:57,70,63:23,11,27:chr2 g.188501748G>A (intergenic),-:0.62,-:NOT_FOUND,- 2 188501895 rs11904560 T C 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.1619,C/0.8381;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:67:33:0:0:1,28,1,37:11,745,14,1074:-0.06,68.39,0.07,0.00:-0.09,27.98,-0.09,0.00:0.02,40.40,0.16,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,51,60:83.0,83.9,152.0,47.0:0,0,0,1:0,0,0,0:56,94,71,76:66,41,75,51:0,36,0,37:chr2 g.188501894T>C (intergenic),-:0.75,-:NOT_FOUND,- 2 188501969 rs12693476 T C 116 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.003794,C/0.9962;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C,G,T:39:19:0:0:35,3,1:1019,40,12:115.86,2.23,0.00:40.11,0.64,0.00:75.75,1.59,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,21:79.5,115.7,111.0:0,0,0:0,0,0:112,81,34:26,57,117:26,7,0:chr2 g.188501968T>C (intergenic),chr2 g.188501968T>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 188502211 rs13393757 A G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1605,G/0.8395 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:4:0:0:7:231:26.44:8.79:17.65:1.00:1.00:1.00:60:53.6:0:0:80:55:26:chr2 g.188502210A>G (intergenic),chr2 g.188502210A>G (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 2 188690750 rs4316908 T A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6911,A/0.3089;PC=0.891 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:12:6:0:0:6,6:192,204:18.45,0.00:14.84,0.00:3.61,0.00:0.98,0.00:0.73,0.00:0.99,0.00:60,60:57.0,15.0:0,0:0,0:52,92:98,58:29,28:chr2 g.188690749T>A (intergenic),-:0.3,-:NOT_FOUND,- 2 188690820 rs4332885 G A 9 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.365,A/0.635;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:8:5:0:0:3,5:95,162:8.63,0.00:0.96,0.00:7.67,0.00:0.67,0.00:0.90,0.00:0.93,0.00:60,60:35.7,40.8:0,0:0,0:132,82:19,68:4,24:chr2 g.188690819G>A (intergenic),-:0.66,-:NOT_FOUND,- 2 189092349 rs10221554 T C 73 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.8105,C/0.1895;PC=1.000;Gene=LINC01090/NR_126396/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:25:0:0:24,24:765,788:73.50,0.00:31.18,0.00:42.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,2.0:0,0:0,0:105,79:46,71:20,34:chr2 g.189092348T>C (intergenic),-:0.15,-:NOT_FOUND,- 2 189342458 . G . . NT END=189348157;NT GT ./. 2 189348220 . G . . NT END=189387482;NT GT ./. 2 189387555 . G . . NT END=189393823;NT GT ./. 2 189393923 . G . . NT END=189405907;NT GT ./. 2 189406046 . G . . NT END=189433965;NT GT ./. 2 189434083 . G . . NT END=189434754;NT GT ./. 2 189434848 . G . . NT END=189448991;NT GT ./. 2 189448896 rs2048138 A T 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.004992,T/0.995;PC=0.001;Gene=GULP1/NM_001252668.1/1;CC=c.610-96A>T;VC=Intron;Gene=GULP1/NM_001252669.1/0;CC=c.301-96A>T;VC=Intron;Gene=GULP1/NM_016315.3/0;CC=c.610-96A>T;VC=Intron;Gene=GULP1/NR_045562.1/0;VC=NonCoding;Gene=GULP1/NR_045563.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:19:0:0:21:644:74.31:64.72:9.59:1.00:1.00:1.00:60:49.7:0:0:45:105:29:NM_016315.3(GULP1) c.610-96A>T,NM_016315.3(GULP1) c.610-96A>T:1,1:NOT_FOUND,NOT_FOUND 2 189449131 . G . . NT END=189452581;NT GT ./. 2 189452677 . G . . NT END=189454466;NT GT ./. 2 189454478 . G . . NT END=189458666;NT GT ./. 2 189458739 . C . . NT END=189599332;NT GT ./. 2 189599648 . T . . NT END=189839215;NT GT ./. 2 189839295 . G . . NT END=189849485;NT GT ./. 2 189849330 rs16830973 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6258,G/0.3742;PC=0.349;Gene=COL3A1/NM_000090.3/1;CC=c.80-156A>G;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:255,277:0.00,26.42:0.00,26.42:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:15.7,49.8:0,0:0,0:75,44:76,106:36,22:-,NM_000090.3(COL3A1) c.80-156A>G:-,0.35:-,NOT_FOUND 2 189849689 . G . . NT END=189849922;NT GT ./. 2 189849773 rs3106796 A G 60 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.6292,G/0.3708;Gene=COL3A1/NM_000090.3/1;CC=c.282+85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:12:0:0:12,20:345,595:0.00,59.82:0.00,22.22:0.00,37.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.2,48.6:0,0:0,0:53,99:95,51:32,21:-,NM_000090.3(COL3A1) c.282+85A>G:-,0.38:-,NOT_FOUND 2 189849974 . G . . NT END=189850390;NT GT ./. 2 189850505 . G . . NT END=189851784;NT GT ./. 2 189851866 . G . . NT END=189852806;NT GT ./. 2 189852861 . G . . NT END=189853315;NT GT ./. 2 189853370 . G . . NT END=189854121;NT GT ./. 2 189854176 . G . . NT END=189854821;NT GT ./. 2 189854876 . G . . NT END=189855032;NT GT ./. 2 189855087 . G . . NT END=189855729;NT GT ./. 2 189855267 rs62181727 A G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8039,G/0.1961;Gene=COL3A1/NM_000090.3/1;CC=c.798+181A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G:6:0:0:0:1,5:31,139:0.00,15.08:0.00,0.00:0.00,15.08:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,48.8:0,0:0,0:54,95:97,56:0,35:-,NM_000090.3(COL3A1) c.798+181A>G:-,0.19:-,NOT_FOUND 2 189855674 rs2203601 T A 43 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.6298,A/0.3702;Gene=COL3A1/NM_000090.3/1;CC=c.799-56T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:30:27:0:0:14,16:455,504:43.19,0.00:32.28,0.00:10.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,0.6:0,0:0,0:51,59:100,91:33,39:NM_000090.3(COL3A1) c.799-56T>A,-:0.38,-:0.319895,- 2 189855784 . G . . NT END=189856212;NT GT ./. 2 189855943 rs3736487 G A 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8043,A/0.1957;Gene=COL3A1/NM_000090.3/1;CC=c.852+160G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,G:12:1:0:0:7,5:180,167:17.77,0.00:-0.38,0.00:18.15,0.00:0.99,0.00:0.72,0.00:1.00,0.00:60,60:30.0,2.4:0,0:0,0:104,113:47,37:6,11:NM_000090.3(COL3A1) c.852+160G>A,-:0.19,-:NOT_FOUND,- 2 189856258 . G . . NT END=189856394;NT GT ./. 2 189856449 . G . . NT END=189856909;NT GT ./. 2 189856671 rs3134656 C T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6304,T/0.3696;Gene=COL3A1/NM_000090.3/1;CC=c.951+223C>T;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:5:0:0:9,9:286,268:0.00,25.68:0.00,5.16:0.00,20.52:0.00,1.00:0.00,0.96:0.00,1.00:60,60:33.3,44.9:0,0:0,0:83,113:68,27:23,18:-,NM_000090.3(COL3A1) c.951+223C>T:-,0.38:-,NOT_FOUND 2 189856955 . G . . NT END=189857612;NT GT ./. 2 189857667 . G . . NT END=189858086;NT GT ./. 2 189857993 rs12693525 T C 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.5952,C/0.4048;Gene=COL3A1/NM_000090.3/1;CC=c.1051-94T>C;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:19:0:0:7,15:225,514:19.86,0.00:13.34,0.00:6.53,0.00:0.97,0.00:1.00,0.00:0.84,0.00:60,60:38.0,0.7:0,0:0,0:67,80:84,71:56,30:NM_000090.3(COL3A1) c.1051-94T>C,-:0.38,-:NOT_FOUND,- 2 189858186 . G . . NT END=189858763;NT GT ./. 2 189858809 . G . . NT END=189858959;NT GT ./. 2 189859059 . G . . NT END=189859266;NT GT ./. 2 189859321 . G . . NT END=189859449;NT GT ./. 2 189859434 rs371354802 CT C 21 idl,rn VT=DEL;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=233;Gene=COL3A1/NM_000090.3/1;CC=c.1348-4delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:CT,I,C:89:62:9:9:71,9,9:2324,277,292:0.00,19.78,21.26:0.00,13.08,8.81:0.00,6.70,12.45:0.00,0.00,0.96:0.00,0.00,0.99:0.00,0.00,0.97:60,60,60:15.9,20.1,4.8:0,0,0:0,0,0:52,31,74:96,112,74:32,25,16:-,NM_000090.3(COL3A1) c.1348-15delT:-,NOT_FOUND:-,NOT_FOUND 2 189859558 . G . . NT END=189859771;NT GT ./. 2 189859826 . G . . NT END=189860417;NT GT ./. 2 189860128 rs3106798 C T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6292,T/0.3708;Gene=COL3A1/NM_000090.3/1;CC=c.1510-290C>T;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:5:2:0:0:2,3:67,98:0.00,9.77:0.00,7.11:0.00,2.66:0.00,0.78:0.00,0.87:0.00,0.94:60,60:0.0,47.7:0,0:0,0:111,86:39,64:34,49:-,NM_000090.3(COL3A1) c.1510-290C>T:-,0.38:-,NOT_FOUND 2 189860517 . G . . NT END=189860850;NT GT ./. 2 189860905 . G . . NT END=189861123;NT GT ./. 2 189860996 rs62181728 G A 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6689,A/0.3311;PC=0.019;Gene=COL3A1/NM_000090.3/1;CC=c.1662+92G>A;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:13:0:0:10,17:288,532:25.82,0.00:11.00,0.00:14.82,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:66.4,15.6:0,0:0,0:115,67:35,83:29,30:NM_000090.3(COL3A1) c.1662+92G>A,-:0.31,-:NOT_FOUND,- 2 189860998 . A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;NP=10;PC=0.025;Gene=COL3A1/NM_000090.3/1;CC=c.1662+94A>G;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,G:27:14:0:0:24,3:767,99:0.00,7.24:0.00,2.06:0.00,5.18:0.00,0.44:0.00,0.72:0.00,0.70:60,60:32.9,52.0:0,0:0,0:76,69:70,81:39,69:-,NM_000090.3(COL3A1) c.1662+94A>G:-,NOT_FOUND:-,NOT_FOUND 2 189861029 rs374476004 T TACACACAC 7 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=COL3A1/NM_000090.3/1;CC=c.1663-94_1663-93insCACACACA;VC=Intron;DM=COL3A1/Collagen;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:T,TACACACAC:29:21:4:0:26,3:791,127:0.00,7.14:0.00,7.53:0.00,-0.39:0.00,0.43:0.00,0.79:0.00,0.58:60,60:28.9,109.7:10,1:0,0:68,26:83,125:40,12:-,NM_000090.3(COL3A1) c.1663-95_1663-94insACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 189861031 rs62181730 T C 36 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5435,C/0.4565;NP=1;NP=1;NP=1;NP=11;NP=56;NP=640;PC=0.003;Gene=COL3A1/NM_000090.3/1;CC=c.1663-93T>C;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:C,T,I:30:21:8:0:12,10,8:372,281,254:35.93,0.00,23.29:26.57,0.00,14.15:9.36,0.00,9.14:1.00,0.00,0.00:1.00,0.00,0.00:0.84,0.00,0.00:60,60,60:67.4,16.6,18.6:1,0,0:0,0,0:36,54,70:115,95,81:34,50,26:NM_000090.3(COL3A1) c.1663-93T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 189861223 . G . . NT END=189861890;NT GT ./. 2 189861396 rs41263753 T A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7542,A/0.2458;PC=0.006;Gene=COL3A1/NM_000090.3/1;CC=c.1761+174T>A;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,T:12:0:0:0:4,8:116,259:10.18,0.00:0.00,0.00:10.18,0.00:0.80,0.00:0.00,0.00:0.80,0.00:60,60:43.5,18.9:0,0:0,0:113,97:21,46:13,19:NM_000090.3(COL3A1) c.1761+174T>A,-:0.23,-:NOT_FOUND,- 2 189861740 rs66853741 TATATATATATGAGACATATATATATGAGAC T 11 idl,nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=6;Gene=COL3A1/NM_000090.3/1;CC=c.1762-89_1762-60delTATATATATGAGACATATATATATGAGACA;VC=Intron;DM=COL3A1/Collagen;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:TATATATATATGAGACATATATATATGAGAC,T:8:11:0:7:4,4:130,212:0.00,11.06:0.00,11.06:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:33.2,20.8:0,3:0,0:96,39:46,112:27,9:-,NM_000090.3(COL3A1) c.1762-150_1762-121delATATATATATGAGACATATATATATGAGAC:-,NOT_FOUND:-,NOT_FOUND 2 189861945 . G . . NT END=189862061;NT GT ./. 2 189862116 . G . . NT END=189862425;NT GT ./. 2 189862203 rs3134654 C T 94 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.01038,T/0.9896;NP=3323;Gene=COL3A1/NM_000090.3/1;CC=c.1869+88C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:T:28:10:0:0:28:804:93.57:29.43:64.14:1.00:1.00:1.00:60:41.4:0:0:69:76:43:NM_000090.3(COL3A1) c.1869+88C>T,NM_000090.3(COL3A1) c.1869+88C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 189862480 . G . . NT END=189862991;NT GT ./. 2 189863046 . G . . NT END=189863399;NT GT ./. 2 189863389 rs13306272 C T 60 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.7532,T/0.2468;Gene=COL3A1/NM_000090.3/1;CC=c.1978-11C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:30:0:0:18,18:622,621:0.00,59.85:0.00,35.39:0.00,24.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,35.8:0,0:0,0:51,56:88,83:18,35:-,NM_000090.3(COL3A1) c.1978-11C>T:-,0.23:-,0.24358 2 189863445 . G . . NT END=189864010;NT GT ./. 2 189864080 rs1800255 G A 143 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=109;DB;DBA=in-clinvar;PAF=G/0.7815,A/0.2185;PC=0.047;Gene=COL3A1/NM_000090.3/1;CC=c.2092G>A;ProtCh=p.A698T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:79:0:0:48,61:1525,2028:142.93,0.00:82.96,0.00:59.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,9.9:0,0:0,0:91,85:57,61:30,31:NM_000090.3(COL3A1) c.2092G>A (p.Ala698Thr),-:0.21,-:0.213901,- 2 189864110 . G . . NT END=189864195;NT GT ./. 2 189864304 . G . . NT END=189864567;NT GT ./. 2 189864622 . G . . NT END=189866122;NT GT ./. 2 189866177 . G . . NT END=189866261;NT GT ./. 2 189866199 rs2271682 T A 271 nt VT=SNV;PN=A;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.2236,A/0.7764;Gene=COL3A1/NM_000090.3/1;CC=c.2337+23T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:56:0:0:76:2348:270.87:146.94:123.94:1.00:1.00:1.00:60:41.1:0:0:92:59:35:NM_000090.3(COL3A1) c.2337+23T>A,NM_000090.3(COL3A1) c.2337+23T>A:0.75,0.75:0.701292,0.701292 2 189866316 . G . . NT END=189867023;NT GT ./. 2 189867078 . G . . NT END=189867680;NT GT ./. 2 189867205 rs3106801 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6286,A/0.3714;PC=0.003;Gene=COL3A1/NM_000090.3/1;CC=c.2445+128G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:10:1:0:0:7,3:206,101:21.24,0.00:3.72,0.00:17.51,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:37.3,10.3:0,0:0,0:124,130:27,20:12,18:NM_000090.3(COL3A1) c.2445+128G>A,-:0.38,-:NOT_FOUND,- 2 189867311 rs13306261 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7422,C/0.2578;Gene=COL3A1/NM_000090.3/1;CC=c.2445+234T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:20:C,T:5:1:0:0:4,1:118,27:12.62,0.00:2.98,0.00:9.64,0.00:0.96,0.00:0.87,0.00:1.00,0.00:60,60:69.8,33.0:0,0:0,0:83,83:67,67:19,0:NM_000090.3(COL3A1) c.2445+234T>C,-:0.23,-:NOT_FOUND,- 2 189867789 . G . . NT END=189868136;NT GT ./. 2 189867844 rs3736489 T A 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.7458,A/0.2542;PC=0.125;Gene=COL3A1/NM_000090.3/1;CC=c.2553+56T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:31:7:0:0:14,17:451,526:42.52,0.00:5.55,0.00:36.97,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:55.4,17.3:0,0:0,0:111,96:39,55:24,37:NM_000090.3(COL3A1) c.2553+56T>A,-:0.23,-:NOT_FOUND,- 2 189867882 rs3736490 C T 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7452,T/0.2548;PC=0.003;Gene=COL3A1/NM_000090.3/1;CC=c.2553+94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:2:0:0:11,8:367,257:0.00,23.90:0.00,3.16:0.00,20.74:0.00,0.99:0.00,0.72:0.00,1.00:60,60:13.5,68.9:0,0:0,0:102,106:49,44:23,32:-,NM_000090.3(COL3A1) c.2553+94C>T:-,0.24:-,NOT_FOUND 2 189868191 . G . . NT END=189868459;NT GT ./. 2 189868514 . G . . NT END=189868707;NT GT ./. 2 189868870 . G . . NT END=189868982;NT GT ./. 2 189869091 . G . . NT END=189870075;NT GT ./. 2 189870184 . G . . NT END=189870931;NT GT ./. 2 189870986 . G . . NT END=189871070;NT GT ./. 2 189871179 . G . . NT END=189871662;NT GT ./. 2 189871717 . G . . NT END=189872225;NT GT ./. 2 189871800 rs13306270 G C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7696,C/0.2304;Gene=COL3A1/NM_000090.3/1;CC=c.3255+84G>C;VC=Intron;DM=COL3A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,G:13:2:0:0:4,9:131,269:11.53,0.00:-0.24,0.00:11.77,0.00:0.79,0.00:0.60,0.00:0.97,0.00:60,60:32.8,33.3:0,0:0,0:122,122:28,28:9,9:NM_000090.3(COL3A1) c.3255+84G>C,-:0.22,-:NOT_FOUND,- 2 189871887 rs71020978 TGATAGATA T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TGATAGATA/0.5028,T/0.4972;DB;DBA=NA;PAF=TGATAGATA/0.5028,T/0.4972;DB;DBA=NA;PAF=TGATAGATA/0.5028,T/0.4972;NP=111;Gene=COL3A1/NM_000090.3/1;CC=c.3255+214_3255+221delTAGATAGA;VC=Intron;DM=COL3A1/Collagen;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:TGATAGATA,T:4:0:0:2:2,2:48,67:0.00,6.46:0.00,0.00:0.00,6.46:0.00,0.51:0.00,0.00:0.00,0.51:60,60:113.5,23.0:0,0:0,0:117,86:11,60:14,5:-,NM_000090.3(COL3A1) c.3255+172_3255+179delGATAGATA:-,NOT_FOUND:-,NOT_FOUND 2 189872334 . G . . NT END=189872610;NT GT ./. 2 189872665 . G . . NT END=189872760;NT GT ./. 2 189872869 . G . . NT END=189873649;NT GT ./. 2 189873948 . G . . NT END=189874903;NT GT ./. 2 189875092 . G . . NT END=189875373;NT GT ./. 2 189875421 rs1516446 T G 326 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.003395,G/0.9966;NP=3479;PC=0.974;Gene=COL3A1/NM_000090.3/1;CC=c.4059T>G;ProtCh=p.H1353Q;VC=Missense;DM=COL3A1/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:85:62:0:0:85:2860:326.43:191.37:135.06:1.00:1.00:1.00:60:35.8:0:0:67:83:38:NM_000090.3(COL3A1) c.=,NM_000090.3(COL3A1) c.=:1,1:0.994925,0.994925 2 189875617 . G . . NT END=189876353;NT GT ./. 2 189875695 rs3768660 T G 63 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.6673,G/0.3327;Gene=COL3A1/NM_000090.3/1;CC=c.4254+79T>G;VC=Intron;DM=COL3A1/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:35:15:0:0:19,16:645,500:63.10,0.00:16.14,0.00:46.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,2.1:0,0:0,0:127,120:24,28:14,16:NM_000090.3(COL3A1) c.4254+79T>G,-:0.3,-:NOT_FOUND,- 2 189876501 . A . . NT END=189898795;NT GT ./. 2 189898943 . C . . NT END=189899641;NT GT ./. 2 189899541 rs4666770 T C 84 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.1552,C/0.8448;Gene=COL5A2/NM_000393.3/1;CC=c.4353+101A>G;VC=Intron;DM=COL5A2/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:22:0:0:23:726:83.54:76.44:7.10:1.00:1.00:1.00:60:68.5:0:0:48:101:38:NM_000393.3(COL5A2) c.4353+101A>G,NM_000393.3(COL5A2) c.4353+101A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 189899572 rs7420715 T C 112 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.1552,C/0.8448;Gene=COL5A2/NM_000393.3/1;CC=c.4353+70A>G;VC=Intron;DM=COL5A2/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C,G:32:30:0:0:31,1:977,5:112.04,0.07:91.84,0.07:20.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.1,66.0:0,0:0,0:60,55:91,96:46,0:NM_000393.3(COL5A2) c.4353+70A>G,NM_000393.3(COL5A2) c.4353+70A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 189899882 . C . . NT END=189901341;NT GT ./. 2 189900093 rs4667259 C T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3566,T/0.6434;PC=0.001;Gene=COL5A2/NM_000393.3/1;CC=c.4114-212G>A;VC=Intron;DM=COL5A2/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:113:13.17:0.00:13.17:1.00:0.00:1.00:60:31.2:0:0:107:42:23:NM_000393.3(COL5A2) c.4114-212G>A,NM_000393.3(COL5A2) c.4114-212G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189901295 rs12693526 G A 66 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.3566,A/0.6434;Gene=COL5A2/NM_000393.3/1;CC=c.4113+47C>T;VC=Intron;DM=COL5A2/COLFI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:574:65.96:62.13:3.83:1.00:1.00:1.00:60:38.6:0:0:66:84:31:NM_000393.3(COL5A2) c.4113+47C>T,NM_000393.3(COL5A2) c.4113+47C>T:0.68,0.68:0.712782,0.712782 2 189901530 . C . . NT END=189903997;NT GT ./. 2 189904290 . C . . NT END=189906311;NT GT ./. 2 189906420 . C . . NT END=189907445;NT GT ./. 2 189907500 . C . . NT END=189907876;NT GT ./. 2 189907937 rs6434312 A G 294 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.05911,G/0.9409;PC=1.000;Gene=COL5A2/NM_000393.3/1;CC=c.3411T>C;ProtCh=p.G1137=;VC=Silent;DM=COL5A2/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:79:55:0:0:79:2569:294.34:136.52:157.82:1.00:1.00:1.00:60:38.9:0:0:66:73:23:NM_000393.3(COL5A2) c.=,NM_000393.3(COL5A2) c.=:0.93,0.93:0.971321,0.971321 2 189907985 . C . . NT END=189909904;NT GT ./. 2 189909959 . C . . NT END=189910525;NT GT ./. 2 189910634 . C . . NT END=189912934;NT GT ./. 2 189912989 . C . . NT END=189914072;NT GT ./. 2 189914181 . C . . NT END=189915294;NT GT ./. 2 189915006 rs67051262 CTCCGGGA C 17 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CTCCGGGA/0.3592,C/0.6408;DB;DBA=NA;PAF=CTCCGGGA/0.3592,C/0.6408;NP=696;PC=0.009;Gene=COL5A2/NM_000393.3/1;CC=c.3039+282_3039+288delTCCCGGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:5:5:150:17.37:17.37:0.00:1.00:1.00:0.00:60:19.6:0:0:38:108:24:NM_000393.3(COL5A2) c.3039+282_3039+288delTCCCGGA,NM_000393.3(COL5A2) c.3039+282_3039+288delTCCCGGA:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189915403 . C . . NT END=189916045;NT GT ./. 2 189916208 . C . . NT END=189916897;NT GT ./. 2 189916952 . C . . NT END=189917474;NT GT ./. 2 189917237 rs62184178 T A 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3598,A/0.6402;PC=0.010;Gene=COL5A2/NM_000393.3/1;CC=c.2715+238A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:6:0:0:7:218:25.14:21.76:3.38:1.00:1.00:1.00:60:110.1:0:0:96:52:24:NM_000393.3(COL5A2) c.2715+238A>T,NM_000393.3(COL5A2) c.2715+238A>T:0.64,0.64:NOT_FOUND,NOT_FOUND 2 189917238 rs62184179 T A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3598,A/0.6402;Gene=COL5A2/NM_000393.3/1;CC=c.2715+237A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,T:6:6:0:0:5,1:157,8:17.03,0.00:17.03,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:94.4,270.0:0,0:0,0:89,100:62,50:32,0:NM_000393.3(COL5A2) c.2715+237A>T,NM_000393.3(COL5A2) c.2715+237A>T:0.6,0.6:NOT_FOUND,NOT_FOUND 2 189917239 rs62184180 T A 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3598,A/0.6402;PC=0.005;Gene=COL5A2/NM_000393.3/1;CC=c.2715+236A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:150:17.76:17.76:0.00:1.00:1.00:0.00:60:123.7:0:0:94:55:17:NM_000393.3(COL5A2) c.2715+236A>T,NM_000393.3(COL5A2) c.2715+236A>T:0.64,0.64:NOT_FOUND,NOT_FOUND 2 189917529 . C . . NT END=189917636;NT GT ./. 2 189917745 . C . . NT END=189918149;NT GT ./. 2 189918204 . C . . NT END=189918620;NT GT ./. 2 189918337 rs6750027 T C 78 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.1925,C/0.8075;Gene=COL5A2/NM_000393.3/1;CC=c.2500-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:1:0:0:24:665:77.85:3.98:73.87:1.00:1.00:1.00:60:34.7:0:0:110:33:35:NM_000393.3(COL5A2) c.2500-134A>G,NM_000393.3(COL5A2) c.2500-134A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 189918675 . C . . NT END=189918884;NT GT ./. 2 189918787 rs6738371 C T 123 nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3596,T/0.6404;Gene=COL5A2/NM_000393.3/1;CC=c.2445+98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:T:36:15:0:0:36:1062:123.19:43.00:80.19:1.00:1.00:1.00:60:44.2:0:0:85:64:36:NM_000393.3(COL5A2) c.2445+98G>A,NM_000393.3(COL5A2) c.2445+98G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189918939 . C . . NT END=189921698;NT GT ./. 2 189921753 . C . . NT END=189922045;NT GT ./. 2 189922016 rs397747056 G GA 44 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;PC=0.001;Gene=COL5A2/NM_000393.3/1;CC=c.2337+29_2337+30insT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:32:35:17:5:14,14,4:468,559,165:0.00,44.45,10.48:0.00,44.66,10.53:0.00,-0.21,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.59,0.00:60,60,60:25.9,29.9,34.5:1,3,1:0,0,0:103,56,28:30,90,119:30,25,20:-,NM_000393.3(COL5A2) c.2337+29_2337+30insT:-,NOT_FOUND:-,NOT_FOUND 2 189922154 . C . . NT END=189923154;NT GT ./. 2 189923104 rs7556733 A G 142 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.05691,G/0.9431;Gene=COL5A2/NM_000393.3/1;CC=c.2229+51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:34:0:0:37:1245:142.11:116.41:25.70:1.00:1.00:1.00:60:35.8:0:0:42:109:30:NM_000393.3(COL5A2) c.2229+51T>C,NM_000393.3(COL5A2) c.2229+51T>C:0.95,0.95:0.962863,0.962863 2 189923254 . C . . NT END=189923574;NT GT ./. 2 189923401 rs10178611 T C 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.3594,C/0.6406;Gene=COL5A2/NM_000393.3/1;CC=c.2131-148A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:33:A,C:18:6:0:0:1,17:10,559:0.39,63.59:0.39,18.96:0.00,44.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.0,62.2:0,0:0,0:101,82:49,68:0,45:NM_000393.3(COL5A2) c.2131-148A>G,NM_000393.3(COL5A2) c.2131-148A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189923434 rs12989558 A C 59 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3594,C/0.6406;Gene=COL5A2/NM_000393.3/1;CC=c.2130+141T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:C,T:17:8:0:0:16,1:517,10:58.86,0.40:24.61,0.40:34.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.0,74.0:0,0:0,0:61,134:89,16:33,0:NM_000393.3(COL5A2) c.2130+141T>G,NM_000393.3(COL5A2) c.2130+141T>G:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189923620 . C . . NT END=189925455;NT GT ./. 2 189923630 rs5837121 AT A 74 idl,rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1261;PC=0.001;Gene=COL5A2/NM_000393.3/1;CC=c.2086-12delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:AT,A:30:18:0:27:7,23:225,827:0.00,73.63:0.00,25.35:0.00,48.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,8.9:0,4:0,0:106,82:44,62:31,24:-,NM_000393.3(COL5A2) c.2086-12delA:-,NOT_FOUND:-,NOT_FOUND 2 189925313 rs6414121 G C 49 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3594,C/0.6406;Gene=COL5A2/NM_000393.3/1;CC=c.2085+143C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:428:48.98:48.98:0.00:1.00:1.00:0.00:60:32.9:0:0:53:97:32:NM_000393.3(COL5A2) c.2085+143C>G,NM_000393.3(COL5A2) c.2085+143C>G:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189925510 . C . . NT END=189926287;NT GT ./. 2 189925548 rs6414122 T A 118 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.05751,A/0.9425;PC=0.001;Gene=COL5A2/NM_000393.3/1;CC=c.2032-39A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:14:0:0:32:1032:118.38:36.58:81.80:1.00:1.00:1.00:60:37.7:0:0:94:53:19:NM_000393.3(COL5A2) c.2032-39A>T,NM_000393.3(COL5A2) c.2032-39A>T:0.95,0.95:0.962325,0.962325 2 189926342 . C . . NT END=189927590;NT GT ./. 2 189927506 rs7424947 C G 123 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.1705,G/0.8295;Gene=COL5A2/NM_000393.3/1;CC=c.1977+85G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:32:0:0:35:1061:122.59:96.51:26.09:1.00:1.00:1.00:60:39.7:0:0:42:109:22:NM_000393.3(COL5A2) c.1977+85G>C,NM_000393.3(COL5A2) c.1977+85G>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 189927645 . C . . NT END=189927735;NT GT ./. 2 189927790 . C . . NT END=189927897;NT GT ./. 2 189927997 . C . . NT END=189928705;NT GT ./. 2 189928760 . C . . NT END=189929282;NT GT ./. 2 189928999 rs150346155 C CAAGTA 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.05891,CAAATA/.,CAAGTA/0.9411;NP=141;Gene=COL5A2/NM_000393.3/1;CC=c.1717-241_1717-240insTACTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,CAAGTA:5:1:4:0:1,4:31,134:0.00,14.22:0.00,3.58:0.00,10.64:0.00,0.96:0.00,0.87:0.00,1.00:60,60:0.0,0.0:0,0:0,0:149,75:2,75:0,15:-,NM_000393.3(COL5A2) c.1717-241_1717-240insTACTT:-,0.95:-,NOT_FOUND 2 189929382 . C . . NT END=189929729;NT GT ./. 2 189929784 . C . . NT END=189931115;NT GT ./. 2 189930854 rs6434316 G A 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3582,A/0.6418;Gene=COL5A2/NM_000393.3/1;CC=c.1563+262C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:115:13.41:13.41:0.00:1.00:1.00:0.00:60:28.8:0:0:10:140:8:NM_000393.3(COL5A2) c.1563+262C>T,NM_000393.3(COL5A2) c.1563+262C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189931224 . C . . NT END=189931454;NT GT ./. 2 189931509 . C . . NT END=189932740;NT GT ./. 2 189932831 rs2229495 T C 210 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.05711,C/0.9429;Gene=COL5A2/NM_000393.3/1;CC=c.1311A>G;ProtCh=p.P437=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:60:42:0:0:60:1817:209.83:113.65:96.18:1.00:1.00:1.00:60:44.8:0:0:90:56:35:NM_000393.3(COL5A2) c.=,NM_000393.3(COL5A2) c.=:0.95,0.95:0.962633,0.962633 2 189932840 . C . . NT END=189932951;NT GT ./. 2 189932997 . C . . NT END=189933511;NT GT ./. 2 189933611 . C . . NT END=189936765;NT GT ./. 2 189936687 rs6434317 T G 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3574,G/0.6426;Gene=COL5A2/NM_000393.3/1;CC=c.1158+79A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:13:0:0:14:408:47.40:42.18:5.21:1.00:1.00:1.00:60:34.1:0:0:44:101:20:NM_000393.3(COL5A2) c.1158+79A>C,NM_000393.3(COL5A2) c.1158+79A>C:0.68,0.68:NOT_FOUND,NOT_FOUND 2 189936820 . C . . NT END=189940118;NT GT ./. 2 189940164 . C . . NT END=189943241;NT GT ./. 2 189943121 rs67456396 GA G 37 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=GA/0.0625,G/0.9375;DB;DBA=NA;PAF=GA/0.0625,G/0.9375;NP=1376;PC=0.002;Gene=COL5A2/NM_000393.3/1;CC=c.1059+120delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:10:10:322:36.97:36.97:0.00:1.00:1.00:0.00:60:1.4:0:0:32:119:16:NM_000393.3(COL5A2) c.1059+120delT,NM_000393.3(COL5A2) c.1059+120delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 189943296 . C . . NT END=189943788;NT GT ./. 2 189943834 . C . . NT END=189944703;NT GT ./. 2 189944758 . C . . NT END=189945715;NT GT ./. 2 189945770 . C . . NT END=189948709;NT GT ./. 2 189948764 . C . . NT END=189949885;NT GT ./. 2 189949940 . C . . NT END=189950444;NT GT ./. 2 189950499 . C . . NT END=189951451;NT GT ./. 2 189951497 . C . . NT END=189953420;NT GT ./. 2 189953285 rs5837124 A AAATG 25 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2017,AAATG/0.7983;DB;DBA=NA;PAF=A/0.2017,AAATG/0.7983;NP=1;NP=2500;Gene=COL5A2/NM_000393.3/1;CC=c.645+135_645+136insCATT;VC=Intron;DM=COL5A2/Collagen;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,AAATG:9:9:8:0:1,8:33,223:0.00,24.69:0.00,24.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,13.6:0,0:0,0:133,60:17,90:0,6:-,NM_000393.3(COL5A2) c.645+135_645+136insCATT:-,0.82:-,NOT_FOUND 2 189953499 . C . . NT END=189957035;NT GT ./. 2 189953660 rs75422763 TTTGA T 9 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TTTGA/0.983,T/0.01697;DB;DBA=NA;PAF=TTTGA/0.983,T/0.01697;NP=57;Gene=COL5A2/NM_000393.3/1;CC=c.568-166_568-163delTCAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:TTTGA,T:10:0:0:3:7,3:210,99:0.00,8.68:0.00,0.00:0.00,8.68:0.00,0.62:0.00,0.00:0.00,0.62:60,60:13.0,11.7:0,0:0,0:92,101:58,50:32,2:-,NM_000393.3(COL5A2) c.568-166_568-163delTCAA:-,0.02:-,NOT_FOUND 2 189957147 . C . . NT END=189962002;NT GT ./. 2 189962057 . C . . NT END=189963452;NT GT ./. 2 189963486 . C . . NT END=189964832;NT GT ./. 2 189964866 . C . . NT END=189968989;NT GT ./. 2 189969004 . C . . NT END=189974950;NT GT ./. 2 189974794 rs4128538 G A 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2115,A/0.7885;Gene=COL5A2/NM_000393.3/1;CC=c.322+157C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:170:19.86:19.86:0.00:1.00:1.00:0.00:60:64.7:0:0:43:108:18:NM_000393.3(COL5A2) c.322+157C>T,NM_000393.3(COL5A2) c.322+157C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 189974958 rs4128539 G T 199 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.1114,T/0.8886;PC=0.002;Gene=COL5A2/NM_000393.3/1;CC=c.315C>A;ProtCh=p.T105=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:T:55:51:0:0:55:1726:198.71:157.45:41.26:1.00:1.00:1.00:60:40.0:0:0:59:92:19:NM_000393.3(COL5A2) c.=,NM_000393.3(COL5A2) c.=:0.91,0.91:0.939951,0.939951 2 189975176 . C . . NT END=190044233;NT GT ./. 2 189975415 rs7568732 T A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3546,A/0.6454;Gene=COL5A2/NM_000393.3/1;CC=c.98-240A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:177:20.55:0.00:20.55:1.00:0.00:1.00:60:54.7:0:0:123:27:20:NM_000393.3(COL5A2) c.98-240A>T,NM_000393.3(COL5A2) c.98-240A>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 190044394 . A . . NT END=190306218;NT GT ./. 2 190176696 rs13004722 T C 19 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4724,C/0.5276;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:7:0:0:6,7:197,227:18.67,0.00:16.90,0.00:1.76,0.00:0.97,0.00:0.98,0.00:0.98,0.00:60,60:34.8,7.4:0,0:0,0:17,108:134,39:13,6:chr2 g.190176695T>C (intergenic),-:0.57,-:NOT_FOUND,- 2 190306305 . G . . NT END=190313104;NT GT ./. 2 190313235 . G . . NT END=190313970;NT GT ./. 2 190313396 rs6738193 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.2596,G/0.7404;Gene=WDR75/NM_001303096.1/1;CC=c.-10-131A>G;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.216+162A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G:17:0:0:0:11,6:341,197:0.00,17.77:0.00,0.00:0.00,17.77:0.00,0.95:0.00,0.00:0.00,0.95:60,60:4.7,32.8:0,0:0,0:88,72:63,77:18,36:-,NM_032168.1(WDR75) c.216+162A>G:-,0.77:-,NOT_FOUND 2 190313841 rs1992295 T C 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.2596,C/0.7404;PC=0.141;Gene=WDR75/NM_001303096.1/1;CC=c.24+281T>C;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.216+607T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:20:0:0:11,9:313,291:30.53,0.00:30.53,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.4,2.6:0,0:0,0:53,22:98,128:29,16:NM_032168.1(WDR75) c.216+607T>C,-:0.77,-:NOT_FOUND,- 2 190315001 rs4667281 G T 140 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.4762,T/0.5238;Gene=WDR75/NM_001303096.1/1;CC=c.25-628G>T;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.217-628G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:90:61:0:0:45,45:1459,1453:0.00,139.68:0.00,83.96:0.00,55.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,37.9:0,0:0,0:82,76:69,70:32,25:-,NM_032168.1(WDR75) c.217-628G>T:-,0.56:-,NOT_FOUND 2 190315094 rs397870023 GT G 84 rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=WDR75/NM_001303096.1/1;CC=c.25-526delT;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.217-526delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:66:32:0:28:38,28:1215,905:0.00,84.34:0.00,29.84:0.00,54.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,17.8:0,0:0,0:81,80:67,58:35,28:-,NM_032168.1(WDR75) c.217-534delT:-,NOT_FOUND:-,NOT_FOUND 2 190315096 . t . . NT END=190315317;NT GT ./. 2 190315228 rs150046106 TG T 54 nt VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=TG/0.9575,T/0.04253;NP=63;PC=0.002;Gene=WDR75/NM_001303096.1/1;CC=c.25-400delG;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.217-400delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:55:43:0:20:35,20:1116,606:0.00,54.49:0.00,49.87:0.00,4.62:0.00,1.00:0.00,1.00:0.00,0.99:60,60:5.7,13.1:0,0:0,0:53,63:98,86:43,39:-,NM_032168.1(WDR75) c.217-400delG:-,0.04:-,NOT_FOUND 2 190315695 . G . . NT END=190316530;NT GT ./. 2 190316622 . G . . NT END=190320045;NT GT ./. 2 190319966 rs78199436 C CA 49 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.4854,CA/0.5146;DB;DBA=NA;PAF=C/0.4854,CA/0.5146,CAAAAAAAA/.;DB;DBA=NA;PAF=NA;NP=1455;NP=2;PC=0.013;Gene=WDR75/NM_001303096.1/1;CC=c.182-70_182-69insA;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.374-70_374-69insA;VC=Intron;DM=WDR75/WD40;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:36:35:17:0:20,16:642,554:0.00,49.40:0.00,38.95:0.00,10.45:0.00,1.00:0.00,1.00:0.00,0.99:60,60:27.2,39.4:0,1:0,0:68,50:66,100:45,25:-,NM_032168.1(WDR75) c.374-80_374-79insA:-,0.59:-,NOT_FOUND 2 190319990 rs1224958 A G 231 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.001398,G/0.9986;Gene=WDR75/NM_001303096.1/1;CC=c.182-56A>G;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.374-56A>G;VC=Intron;DM=WDR75/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G:60:55:0:0:60:2028:231.41:178.92:52.49:1.00:1.00:1.00:60:36.8:0:0:32:106:22:NM_032168.1(WDR75) c.374-56A>G,NM_032168.1(WDR75) c.374-56A>G:1,1:NOT_FOUND,NOT_FOUND 2 190320171 . G . . NT END=190322036;NT GT ./. 2 190322108 . G . . NT END=190323478;NT GT ./. 2 190322196 rs10497700 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.476,C/0.524;PC=0.001;Gene=WDR75/NM_001303096.1/1;CC=c.377+89T>C;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.569+89T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:292,292:28.07,0.00:0.00,0.00:28.07,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.7,5.6:0,0:0,0:111,125:39,25:9,10:NM_032168.1(WDR75) c.569+89T>C,-:0.56,-:NOT_FOUND,- 2 190323177 rs2351933 A C 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2594,C/0.7406;Gene=WDR75/NM_001303096.1/1;CC=c.378-302A>C;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.570-302A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:6:6:0:0:2,4:67,126:0.00,12.85:0.00,12.85:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,37.5:0,0:0,0:54,17:96,133:12,10:-,NM_032168.1(WDR75) c.570-302A>C:-,0.77:-,NOT_FOUND 2 190323530 rs1157910 A G 162 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=A/0.4744,G/0.5256;PC=0.020;Gene=WDR75/NM_001303096.1/1;CC=c.429A>G;ProtCh=p.T143=;VC=Silent;Gene=WDR75/NM_032168.2/0;CC=c.621A>G;ProtCh=p.T207=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:109:72:0:0:52,57:1701,1680:0.00,162.09:0.00,72.43:0.00,89.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,38.4:0,0:0,0:76,56:67,94:41,37:-,NM_032168.1(WDR75) c.=:-,0.56:-,0.559127 2 190323599 . G . . NT END=190324061;NT GT ./. 2 190324151 . G . . NT END=190327209;NT GT ./. 2 190327076 rs2304703 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.476,T/0.524;Gene=WDR75/NM_001303096.1/1;CC=c.587-134C>T;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.779-134C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:26:0:0:15,11:500,318:0.00,29.30:0.00,29.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.9,71.5:0,0:0,0:55,34:95,117:37,18:-,NM_032168.1(WDR75) c.779-134C>T:-,0.56:-,NOT_FOUND 2 190327126 rs2304702 C G 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.2594,G/0.7406;Gene=WDR75/NM_001303096.1/1;CC=c.587-84C>G;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.779-84C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:42:39:0:0:24,18:790,550:0.00,51.11:0.00,44.69:0.00,6.42:0.00,1.00:0.00,1.00:0.00,0.98:60,60:19.4,58.3:0,0:0,0:49,47:102,103:25,34:-,NM_032168.1(WDR75) c.779-84C>G:-,0.77:-,NOT_FOUND 2 190327369 . G . . NT END=190328419;NT GT ./. 2 190328480 . G . . NT END=190328571;NT GT ./. 2 190328688 . G . . NT END=190329804;NT GT ./. 2 190328853 rs963738 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4746,C/0.5254;Gene=WDR75/NM_001303096.1/1;CC=c.921+166T>C;VC=Intron;Gene=WDR75/NM_032168.2/0;CC=c.1113+166T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,C,T:12:0:0:0:1,5,6:17,172,191:0.89,16.28,0.00:0.00,0.00,0.00:0.89,16.28,0.00:0.00,0.92,0.00:0.00,0.00,0.00:0.00,0.92,0.00:60,60,60:178.0,37.0,3.7:0,0,0:0,0,0:44,124,135:107,24,16:0,18,10:NM_032168.1(WDR75) c.1113+166T>C,-:0.56,-:NOT_FOUND,- 2 190329981 . G . . NT END=190331150;NT GT ./. 2 190331309 . G . . NT END=190332193;NT GT ./. 2 190332375 . G . . NT END=190333200;NT GT ./. 2 190333296 . G . . NT END=190334069;NT GT ./. 2 190334166 . G . . NT END=190334801;NT GT ./. 2 190334972 . G . . NT END=190335544;NT GT ./. 2 190335605 . G . . NT END=190338911;NT GT ./. 2 190339059 . G . . NT END=190339442;NT GT ./. 2 190339535 . G . . NT END=190339938;NT GT ./. 2 190340144 . G . . NT END=190426603;NT GT ./. 2 190400936 rs66726913 AACACACACACACAC A 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=17;PC=0.012;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AACACACACACACAC,A:4:4:0:4:1,3:34,87:0.00,8.76:0.00,4.83:0.00,3.93:0.00,0.78:0.00,0.97:0.00,0.94:60,70:0.0,4.7:0,1:0,0:98,32:36,117:0,13:-,chr2 g.190400937_190400950delACACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 190426918 . C . . NT END=190428309;NT GT ./. 2 190428952 . C . . NT END=190430079;NT GT ./. 2 190430326 . C . . NT END=190436440;NT GT ./. 2 190436568 . C . . NT END=190437571;NT GT ./. 2 190437482 rs397770024 C CA 25 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=259;Gene=SLC40A1/NM_014585.5/1;CC=c.387+89dupT;VC=Intron;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,CA:9:10:8:0:2,7:64,265:0.00,24.51:0.00,24.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.5,30.4:0,1:0,0:89,25:61,125:53,11:-,NM_014585.5(SLC40A1) c.387+89_387+90insT:-,NOT_FOUND:-,NOT_FOUND 2 190437688 . C . . NT END=190439886;NT GT ./. 2 190440047 . C . . NT END=190442944;NT GT ./. 2 190440354 rs11690401 G A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.848,A/0.152;Gene=SLC40A1/NM_014585.5/1;CC=c.112-308C>T;VC=Intron;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:135:15.41:0.00:15.41:1.00:0.00:1.00:60:36.0:0:0:104:46:10:NM_014585.5(SLC40A1) c.112-308C>T,NM_014585.5(SLC40A1) c.112-308C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 2 190442842 rs1439813 T A 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.4183,A/0.5817;Gene=SLC40A1/NM_014585.5/1;CC=c.111+1697A>T;VC=Intron;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:32:31:0:0:16,16:492,498:47.21,0.00:47.51,0.00:-0.30,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:58.9,3.7:0,0:0,0:32,62:118,88:21,41:NM_014585.5(SLC40A1) c.111+1697A>T,-:0.61,-:NOT_FOUND,- 2 190442893 rs1439814 C T 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.4185,T/0.5815;PC=0.152;Gene=SLC40A1/NM_014585.5/1;CC=c.111+1646G>A;VC=Intron;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:49:43:0:0:1,23,25:9,789,799:-0.06,0.00,77.35:-0.15,0.00,56.83:0.10,0.00,20.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:61.0,2.1,48.1:0,0,0:0,0,0:33,50,38:118,99,113:0,25,24:-,NM_014585.5(SLC40A1) c.111+1646G>A:-,0.61:-,NOT_FOUND 2 190443080 . C . . NT END=190444538;NT GT ./. 2 190443304 rs1439815 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4193,T/0.5807;PC=0.001;Gene=SLC40A1/NM_014585.5/1;CC=c.111+1235G>A;VC=Intron;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:8:0:0:0:3,5:89,154:0.00,15.48:0.00,0.00:0.00,15.48:0.00,0.97:0.00,0.00:0.00,0.97:60,60:29.0,48.4:0,0:0,0:116,90:35,60:5,26:-,NM_014585.5(SLC40A1) c.111+1235G>A:-,0.61:-,NOT_FOUND 2 190444392 rs1123109 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.903,C/0.09704;Gene=SLC40A1/NM_014585.5/1;CC=c.111+147A>G;VC=Intron;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1;DM=SLC40A1/FPN1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:C,T:12:12:0:0:8,4:267,109:27.24,0.00:27.24,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.9,46.5:0,0:0,0:65,61:85,88:32,24:NM_014585.5(SLC40A1) c.111+147A>G,-:0.11,-:NOT_FOUND,- 2 190444607 . C . . NT END=190445143;NT GT ./. 2 190444630 rs1439816 C G 141 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.3405,G/0.6595;Gene=SLC40A1/NM_014585.5/1;CC=c.44-24G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:17:0:0:37:1234:141.03:43.78:97.24:1.00:1.00:1.00:60:39.4:0:0:92:50:27:NM_014585.5(SLC40A1) c.44-24G>C,NM_014585.5(SLC40A1) c.44-24G>C:0.71,0.71:0.69022,0.69022 2 190444885 rs5837154 GGTTT G 22 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=GGTTT/0.4399,G/0.5601;DB;DBA=NA;PAF=GGTTT/0.4399,G/0.5601;NP=183;Gene=SLC40A1/NM_014585.5/1;CC=c.43+255_43+258delAAAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:GGTTT,G:12:7:0:7:5,7:107,224:0.00,22.23:0.00,12.45:0.00,9.78:0.00,0.99:0.00,1.00:0.00,0.98:60,70:54.4,4.3:0,0:0,0:54,72:96,79:51,53:-,NM_014585.5(SLC40A1) c.43+255_43+258delAAAC:-,0.59:-,NOT_FOUND 2 190445076 rs4287798 T G 85 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.4395,G/0.5605;Gene=SLC40A1/NM_014585.5/1;CC=c.43+68A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:56:51:0:0:28,28:884,883:84.90,0.00:65.79,0.00:19.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,21.0:0,0:0,0:37,42:107,108:23,23:NM_014585.5(SLC40A1) c.43+68A>C,-:0.59,-:0.541393,- 2 190445194 rs11568351 G C 172 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.905,C/0.09505;PC=0.003;Gene=SLC40A1/NM_014585.5/1;CC=c.-8C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:119:95:0:0:1,56,62:10,1808,1986:-0.13,172.01,0.00:-0.05,109.78,0.00:-0.09,62.23,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:96.0,48.6,16.4:0,0,0:0,0,0:34,81,77:115,61,71:0,28,38:NM_014585.5(SLC40A1) c.-8C>G,-:0.11,-:0.160003,- 2 190445284 rs13008848 C G 175 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.9032,G/0.09685;PC=0.285;Gene=SLC40A1/NM_014585.5/1;CC=c.-98G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:112:68:0:0:56,56:1905,1818:0.00,174.71:0.00,92.39:0.00,82.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,47.5:0,0:0,0:85,67:63,70:34,32:-,NM_014585.5(SLC40A1) c.-98G>C:-,0.11:-,NOT_FOUND 2 190445495 rs3833570 T TCCG 162 rn VT=INS;SST=Single;DP=172;DB;DBA=NA;PAF=T/0.4183,TCCG/0.5335,TCCGCCG/0.04812;NP=11;NP=284;PC=0.001;Gene=SLC40A1/NM_014585.5/1;CC=c.-310_-309insCGG;VC=5UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TCCG,D:171:129:56:3:113,56,2:3716,1814,101:0.00,161.52,3.23:0.00,93.52,0.62:0.00,68.00,2.61:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.3,4.4,0.0:2,0,1:0,0,0:83,59,64:65,80,87:32,25,38:-,NM_014585.5(SLC40A1) c.-312_-310dupCGG:-,0.59:-,NOT_FOUND 2 190445538 . A . . NT END=190448059;NT GT ./. 2 190445687 rs6728200 A G 122 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:C,G:33:0:0:0:1,32:10,1074:0.25,122.23:0.00,0.00:0.25,122.23:0.00,1.00:0.00,0.00:0.00,1.00:60,60:79.0,49.8:0,0:0,0:129,121:19,27:0,22:NM_014585.5(SLC40A1) c.-351-u150T>C,NM_014585.5(SLC40A1) c.-351-u150T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 190447811 rs17198983 C T 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5256,T/0.4744 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:5:0:0:3,2:90,69:0.00,6.39:0.00,6.39:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:38.3,34.5:0,0:0,0:48,11:103,139:36,3:-,NM_014585.5(SLC40A1) c.-351-u2274G>A:-,0.52:-,NOT_FOUND 2 190448047 rs987028 T C 162 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:C:44:35:0:0:44:1409:161.74:91.84:69.90:1.00:1.00:1.00:60:39.0:0:0:57:79:35:NM_014585.5(SLC40A1) c.-351-u2510A>G,NM_014585.5(SLC40A1) c.-351-u2510A>G:1,1:NOT_FOUND,NOT_FOUND 2 190448090 . A . . NT END=190530858;NT GT ./. 2 190448550 rs11887968 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1717,C/0.8283;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:139:15.81:7.85:7.95:1.00:1.00:1.00:60:114.8:0:0:70:72:18:NM_014585.5(SLC40A1) c.-351-u3013A>G,NM_014585.5(SLC40A1) c.-351-u3013A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 190531426 rs1437880 G A 254 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.01697,A/0.983;PC=0.406;Gene=ASNSD1/NM_019048.2/1;CC=c.568G>A;ProtCh=p.G190R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:41:0:0:66:2226:254.03:128.32:125.71:1.00:1.00:1.00:60:39.8:0:0:77:70:40:NM_019048.2(ASNSD1) c.=,NM_019048.2(ASNSD1) c.=:0.99,0.99:0.983456,0.983456 2 190532323 . G . . NT END=190532489;NT GT ./. 2 190532672 . G . . NT END=190535166;NT GT ./. 2 190535453 . T . . NT END=190541216;NT GT ./. 2 190535538 rs893782 C T 78 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.01518,T/0.9848;Gene=ASNSD1/NM_019048.2/1;CC=c.*86C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:1:0:0:21:677:77.71:1.94:75.77:1.00:1.00:1.00:60:37.5:0:0:104:47:16:NM_019048.2(ASNSD1) c.=,NM_019048.2(ASNSD1) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 2 190541819 . T . . NT END=190554252;NT GT ./. 2 190541842 rs71023708 AT A 19 idl,rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=AT/0.359,A/0.641;DB;DBA=NA;PAF=AT/0.359,A/0.641;DB;DBA=NA;PAF=AT/0.359,A/0.641;NP=6;Gene=ANKAR/NM_144708.3/1;CC=c.601+43delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:AT,C,T,I,A:47:20:3:10:35,1,1,2,8:1045,11,33,102,307:0.00,-0.08,1.78,4.34,19.02:0.00,-0.09,-0.09,3.54,6.66:0.00,0.01,1.87,0.81,12.36:0.00,0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.99:60,60,60,60,60:24.2,163.0,64.0,104.0,25.5:0,0,1,1,2:0,0,0,0,0:111,73,39,70,80:21,78,112,74,71:26,0,0,6,28:-,NM_144708.3(ANKAR) c.601+26delT:-,NOT_FOUND:-,NOT_FOUND 2 190541861 rs56090484 G T 58 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=20;PC=0.001;Gene=ANKAR/NM_144708.3/1;CC=c.601+44G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:12:0:5:21,19:611,610:0.00,58.06:0.00,18.13:0.00,39.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,71.6:0,0:0,0:92,84:59,63:35,32:-,NM_144708.3(ANKAR) c.601+44G>T:-,NOT_FOUND:-,NOT_FOUND 2 190554692 . T . . NT END=190556980;NT GT ./. 2 190554759 rs62185872 T A 47 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8772,A/0.1228;PC=0.009;Gene=ANKAR/NM_144708.3/1;CC=c.1039+69T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:3:0:0:14,10:474,334:47.00,0.00:6.44,0.00:40.56,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:53.2,1.2:0,0:0,0:109,96:41,53:30,47:NM_144708.3(ANKAR) c.1039+69T>A,-:0.13,-:NOT_FOUND,- 2 190556898 rs16831873 C T 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9119,T/0.08806;Gene=ANKAR/NM_144708.3/1;CC=c.1040-83C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:10,13:341,405:0.00,39.84:0.00,34.57:0.00,5.26:0.00,1.00:0.00,1.00:0.00,0.96:60,60:11.4,39.8:0,0:0,0:41,43:109,105:22,26:-,NM_144708.3(ANKAR) c.1040-83C>T:-,0.1:-,NOT_FOUND 2 190557146 . T . . NT END=190557799;NT GT ./. 2 190557905 . T . . NT END=190559706;NT GT ./. 2 190559889 . T . . NT END=190560875;NT GT ./. 2 190561097 . T . . NT END=190569748;NT GT ./. 2 190569952 . T . . NT END=190571663;NT GT ./. 2 190570001 rs11319823 TA T 131 rn VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=TA/0.01637,T/0.9836;NP=3145;PC=0.015;Gene=ANKAR/NM_144708.3/1;CC=c.1910+61delA;VC=Intron;DM=ANKAR/Ank_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:TA,T:47:13:0:39:8,39:230,1221:0.00,131.39:0.00,13.51:0.00,117.87:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.9,8.1:0,0:0,0:140,113:8,37:10,16:-,NM_144708.3(ANKAR) c.1910+52delA:-,NOT_FOUND:-,0.981806 2 190571874 . T . . NT END=190575774;NT GT ./. 2 190572063 rs12471217 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4261,A/0.5739;Gene=ANKAR/NM_144708.3/1;CC=c.2119+191G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:6:0:0:0:4,2:119,68:12.15,0.00:0.00,0.00:12.15,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:52.2,0.0:0,0:0,0:60,123:91,27:35,11:NM_144708.3(ANKAR) c.2119+191G>A,-:0.6,-:NOT_FOUND,- 2 190575881 . T . . NT END=190584297;NT GT ./. 2 190576079 rs2255705 T G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01697,G/0.983;Gene=ANKAR/NM_144708.3/1;CC=c.2224+200T>G;VC=Intron;DM=ANKAR/Arm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:0:0:0:5:115:13.79:0.00:13.79:1.00:0.00:1.00:60:94.2:0:0:65:78:34:NM_144708.3(ANKAR) c.2224+200T>G,NM_144708.3(ANKAR) c.2224+200T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 190583957 rs2256719 C T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.01677,T/0.9832;Gene=ANKAR/NM_144708.3/1;CC=c.2225-341C>T;VC=Intron;DM=ANKAR/Arm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:154:17.78:13.91:3.88:1.00:1.00:1.00:60:42.4:0:0:63:88:6:NM_144708.3(ANKAR) c.2225-341C>T,NM_144708.3(ANKAR) c.2225-341C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 190584541 . T . . NT END=190585344;NT GT ./. 2 190585515 . T . . NT END=190592548;NT GT ./. 2 190592825 . T . . NT END=190592992;NT GT ./. 2 190593148 . T . . NT END=190593385;NT GT ./. 2 190593311 rs1225087 C G 134 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.01657,G/0.9834;PC=0.134;Gene=ANKAR/NM_144708.3/1;CC=c.3032-75C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:23:0:0:36:1170:134.12:73.66:60.46:1.00:1.00:1.00:60:38.0:0:0:51:99:37:NM_144708.3(ANKAR) c.3032-75C>G,NM_144708.3(ANKAR) c.3032-75C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 190593549 . T . . NT END=190595220;NT GT ./. 2 190595258 rs1225090 G T 117 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.01657,T/0.9834;Gene=ANKAR/NM_144708.3/1;CC=c.3231G>T;ProtCh=p.L1077F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:T:32:23:0:0:32:1021:117.27:53.10:64.17:1.00:1.00:1.00:60:33.1:0:0:64:70:33:NM_144708.3(ANKAR) c.3231G>T (p.Leu1077Phe),NM_144708.3(ANKAR) c.3231G>T (p.Leu1077Phe):0.99,0.99:0.978471,0.978471 2 190595328 . G . . NT END=190597832;NT GT ./. 2 190597956 . G . . NT END=190602408;NT GT ./. 2 190602513 rs1225099 T C 140 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.01697,C/0.983;PC=1.000;Gene=ANKAR/NM_144708.3/1;CC=c.3528T>C;ProtCh=p.F1176=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:C:39:26:0:0:39:1214:139.79:69.72:70.06:1.00:1.00:1.00:60:41.2:0:0:74:73:30:NM_144708.3(ANKAR) c.3528T>C (p.(=)),NM_144708.3(ANKAR) c.3528T>C (p.(=)):0.99,0.99:0.978462,0.978462 2 190602569 . T . . NT END=190603290;NT GT ./. 2 190603201 rs572910284 T TA 51 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2032;PC=0.001;Gene=ANKAR/NM_144708.3/1;CC=c.3583-80dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:TA:14:15:15:0:14:482:51.15:51.15:0.00:1.00:1.00:0.00:70:4.9:1:0:31:120:24:NM_144708.3(ANKAR) c.3583-90_3583-89insA,NM_144708.3(ANKAR) c.3583-90_3583-89insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 190603410 . T . . NT END=190606067;NT GT ./. 2 190606016 rs115270501 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.9982,G/0.001797;NP=49;Gene=ANKAR/NM_144708.3/1;CC=c.3701-52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,G:27:25:0:0:21,6:662,183:0.00,14.95:0.00,13.67:0.00,1.28:0.00,0.91:0.00,0.99:0.00,0.75:60,60:2.4,41.3:0,0:0,0:41,54:105,96:33,30:-,NM_144708.3(ANKAR) c.3701-52A>G:-,0.0041:-,0.006281 2 190606179 . T . . NT END=190608000;NT GT ./. 2 190607591 rs58932882 G GACAC 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4385,GAC/0.5615;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.4385,GAC/0.5615;NP=1;NP=2;PC=0.004;Gene=ANKAR/NM_144708.3/1;CC=c.3811-382_3811-381insACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,GACAC:5:5:4:0:2,3:62,135:0.00,10.03:0.00,8.59:0.00,1.44:0.00,0.73:0.00,0.96:0.00,0.79:60,60:44.0,20.7:0,1:0,0:68,71:82,73:53,6:-,NM_144708.3(ANKAR) c.3811-410_3811-409insACAC:-,NOT_FOUND:-,NOT_FOUND 2 190608201 . G . . NT END=190609467;NT GT ./. 2 190609516 . T . . NT END=190611105;NT GT ./. 2 190610890 rs2254146 G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.09445,A/0.9056;PC=0.002;Gene=ANKAR/NM_144708.3/1;CC=c.4058-216G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:349:40.11:40.11:0.00:1.00:1.00:0.00:60:45.3:0:0:21:129:13:NM_144708.3(ANKAR) c.4058-216G>A,NM_144708.3(ANKAR) c.4058-216G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 190611084 rs13002216 T C 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4269,C/0.5731;Gene=ANKAR/NM_144708.3/1;CC=c.4058-22T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:33:0:0:18,22:565,722:53.10,0.00:31.54,0.00:21.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,12.3:0,0:0,0:30,57:119,91:26,32:NM_144708.3(ANKAR) c.4058-22T>C,-:0.6,-:0.563769,- 2 190611354 . T . . NT END=190615341;NT GT ./. 2 190611414 rs2254166 T C 97 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.01697,C/0.983;PC=0.008;Gene=OSGEPL1/NM_022353.2/1;CC=c.*509A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:10:0:0:26:842:96.52:27.77:68.74:1.00:1.00:1.00:60:60.3:0:0:109:35:21:NM_022353.2(OSGEPL1) c.*509A>G,NM_022353.2(OSGEPL1) c.*509A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 190611459 rs2254167 A G 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.01677,G/0.9832;Gene=OSGEPL1/NM_022353.2/1;CC=c.*464T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:2:0:0:15:474:54.52:3.48:51.04:1.00:1.00:1.00:60:74.4:0:0:120:26:18:NM_022353.2(OSGEPL1) c.*464T>C,NM_022353.2(OSGEPL1) c.*464T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 190615176 rs67364820 AG A 25 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=OSGEPL1/NM_022353.2/1;CC=c.*28+99delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:AG,A:8:8:0:7:1,7:26,229:0.00,24.93:0.00,24.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:86.0,9.0:0,0:0,0:140,39:10,112:0,18:-,NM_022353.2(OSGEPL1) c.*28+99delC:-,0.98:-,NOT_FOUND 2 190615178 rs114137937 A T 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=945;PC=0.001;Gene=OSGEPL1/NM_022353.2/1;CC=c.*28+98T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,T:8:8:0:0:1,7:33,233:0.00,25.33:0.00,25.33:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:86.0,9.0:0,0:0,0:142,40:8,111:0,18:-,NM_022353.2(OSGEPL1) c.*28+98T>A:-,NOT_FOUND:-,NOT_FOUND 2 190615383 . C . . NT END=190617378;NT GT ./. 2 190617451 . C . . NT END=190617574;NT GT ./. 2 190617643 rs2243876 A G 206 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.02975,G/0.9702;PC=0.037;Gene=OSGEPL1/NM_022353.2/1;CC=c.1026T>C;ProtCh=p.N342=;VC=Silent;DM=OSGEPL1/Peptidase_M22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:G:57:36:0:0:57:1785:205.56:92.48:113.08:1.00:1.00:1.00:60:39.4:0:0:55:94:25:NM_022353.2(OSGEPL1) c.1026T>C (p.(=)),NM_022353.2(OSGEPL1) c.1026T>C (p.(=)):0.97,0.97:0.968401,0.968401 2 190617706 . C . . NT END=190618641;NT GT ./. 2 190618791 . C . . NT END=190618866;NT GT ./. 2 190619072 . C . . NT END=190619883;NT GT ./. 2 190620287 . C . . NT END=190626145;NT GT ./. 2 190626387 . C . . NT END=190627410;NT GT ./. 2 190627876 rs1225116 T G 197 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.01657,G/0.9834;Gene=OSGEPL1/NM_022353.2/1;CC=c.-486A>C;VC=5UTR;Gene=OSGEPL1-AS1/NR_102429.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:28:0:0:53:1714:196.60:71.46:125.14:1.00:1.00:1.00:60:38.4:0:0:80:71:40:NM_022353.2(OSGEPL1) c.-486A>C,NM_022353.2(OSGEPL1) c.-486A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 190627942 . G . . NT END=190636492;NT GT ./. 2 190628035 . TA T 10 rn VT=DEL;SST=Single;DP=15;NP=3;PC=0.001;Gene=OSGEPL1-AS1/NR_102429.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:TA,T:14:1:0:5:10,4:250,151:0.00,10.10:0.00,-1.60:0.00,11.70:0.00,0.76:0.00,0.51:0.00,0.76:60,60:9.6,2.2:0,1:0,0:71,92:78,59:30,34:-,NM_022353.2(OSGEPL1) c.-534-u112delT:-,NOT_FOUND:-,NOT_FOUND 2 190636411 rs6942 C G 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4161,G/0.5839;PC=0.062;Gene=ORMDL1/NM_001128150.1/0;CC=c.*82G>C;VC=3UTR;Gene=ORMDL1/NM_016467.4/1;CC=c.*82G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:20:0:0:10,12:342,419:0.00,41.04:0.00,32.27:0.00,8.77:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.2,35.9:0,0:0,0:37,33:113,113:22,24:-,NM_016467.4(ORMDL1) c.*82G>C:-,0.61:-,NOT_FOUND 2 190636629 . C . . NT END=190640290;NT GT ./. 2 190640443 . C . . NT END=190647147;NT GT ./. 2 190640475 rs3816196 A G 60 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4163,G/0.5837;Gene=ORMDL1/NM_001128150.1/0;CC=c.175-33T>C;VC=Intron;Gene=ORMDL1/NM_016467.4/1;CC=c.175-33T>C;VC=Intron;DM=ORMDL1/ORMDL;DM=ORMDL1/ORMDL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:11:0:0:15,18:494,609:0.00,59.61:0.00,9.67:0.00,49.94:0.00,1.00:0.00,0.98:0.00,1.00:60,60:1.2,40.1:0,0:0,0:124,98:27,40:13,34:-,NM_016467.4(ORMDL1) c.175-33T>C:-,0.61:-,0.572659 2 190647108 rs10168387 T C 117 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.01418,C/0.9858;Gene=ORMDL1/NM_001128150.1/0;CC=c.174+40A>G;VC=Intron;Gene=ORMDL1/NM_016467.4/1;CC=c.174+40A>G;VC=Intron;DM=ORMDL1/ORMDL;DM=ORMDL1/ORMDL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A,C:33:31:0:0:1,32:10,1022:0.25,116.99:0.25,97.72:0.00,19.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:180.0,36.3:0,0:0,0:62,52:87,97:0,34:NM_016467.4(ORMDL1) c.174+40A>G,NM_016467.4(ORMDL1) c.174+40A>G:0.99,0.99:0.981311,0.981311 2 190647322 . G . . NT END=190656535;NT GT ./. 2 190656341 . C CA 8 rn VT=INS;SST=Single;DP=18;NP=2;PC=0.004;Gene=PMS1/NM_000534.4/1;CC=c.-20-162_-20-161insA;VC=Intron;Gene=PMS1/NM_001128143.1/0;CC=c.-20-162_-20-161insA;VC=Intron;Gene=PMS1/NM_001128144.1/0;CC=c.-20-162_-20-161insA;VC=Intron;Gene=PMS1/NM_001289408.1/0;CC=c.-445-162_-445-161insA;VC=Intron;Gene=PMS1/NM_001289409.1/0;CC=c.-262-162_-262-161insA;VC=Intron;Gene=PMS1/NR_110332.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,CA,D:18:18:3:3:12,3,3:390,100,99:0.00,8.15,8.05:0.00,8.15,8.05:0.00,0.00,0.00:0.00,0.52,0.00:0.00,0.52,0.00:0.00,0.00,0.00:60,60,60:17.8,8.0,7.7:0,0,0:0,0,0:32,52,13:118,96,138:20,28,2:-,NM_000534.4(PMS1) c.-20-175_-20-174insA:-,NOT_FOUND:-,NOT_FOUND 2 190656668 . G . . NT END=190660494;NT GT ./. 2 190660678 . G . . NT END=190670377;NT GT ./. 2 190670481 . G . . NT END=190682742;NT GT ./. 2 190670539 rs555414470 T TA 10 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.7847,TA/0.2153;DB;DBA=NA;PAF=T/0.7847,TA/0.2153;DB;DBA=NA;PAF=T/0.7847,TA/0.2153;DB;DBA=NA;PAF=T/0.7847,TA/0.2153,TAA/.;NP=453;PC=0.026;Gene=PMS1/NM_000534.4/1;CC=c.418+70dupA;VC=Intron;Gene=PMS1/NM_001128143.1/0;CC=c.418+70dupA;VC=Intron;Gene=PMS1/NM_001128144.1/0;CC=c.418+70dupA;VC=Intron;Gene=PMS1/NM_001289408.1/0;CC=c.-111+9873dupA;VC=Intron;Gene=PMS1/NM_001289409.1/0;CC=c.-110-12193dupA;VC=Intron;Gene=PMS1/NR_110332.1/0;VC=NonCoding;DM=PMS1/HATPase_c;DM=PMS1/DNA_mis_repair;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:T,TA,D:16:2:4:1:11,4,1:333,123,32:0.00,10.43,2.17:0.00,-0.19,-0.04:0.00,10.61,2.21:0.00,0.75,0.00:0.00,0.53,0.00:0.00,0.97,0.00:60,60,60:5.5,6.5,0.0:0,0,0:0,0,0:99,73,127:52,77,23:44,35,0:-,NM_000534.4(PMS1) c.418+59_418+60insA:-,NOT_FOUND:-,NOT_FOUND 2 190682632 rs3791773 G C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7839,C/0.2161;PC=0.003;Gene=PMS1/NM_000534.4/1;CC=c.419-111G>C;VC=Intron;Gene=PMS1/NM_001128143.1/0;CC=c.419-111G>C;VC=Intron;Gene=PMS1/NM_001128144.1/0;CC=c.419-111G>C;VC=Intron;Gene=PMS1/NM_001289408.1/0;CC=c.-110-111G>C;VC=Intron;Gene=PMS1/NM_001289409.1/0;CC=c.-110-111G>C;VC=Intron;Gene=PMS1/NR_110332.1/0;VC=NonCoding;DM=PMS1/HATPase_c;DM=PMS1/DNA_mis_repair GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,G:15:14:0:0:5,10:172,309:15.44,0.00:12.43,0.00:3.01,0.00:0.89,0.00:0.99,0.00:0.63,0.00:60,60:34.4,1.7:0,0:0,0:22,9:129,140:15,7:NM_000534.4(PMS1) c.419-111G>C,-:0.23,-:NOT_FOUND,- 2 190682907 . G . . NT END=190708689;NT GT ./. 2 190687175 rs56700120 G GT 11 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.9087,GT/0.08986;DB;DBA=NA;PAF=G/0.9087,GT/0.08986,GTT/0.001398;DB;DBA=NA;PAF=G/0.9087,GT/0.08986;NP=1;NP=642;PC=0.998;Gene=PMS1/NM_000534.4/1;CC=c.582+4278dupT;VC=Intron;Gene=PMS1/NM_001128143.1/0;CC=c.582+4278dupT;VC=Intron;Gene=PMS1/NM_001128144.1/0;CC=c.582+4278dupT;VC=Intron;Gene=PMS1/NM_001289408.1/0;CC=c.54+4278dupT;VC=Intron;Gene=PMS1/NM_001289409.1/0;CC=c.54+4278dupT;VC=Intron;Gene=PMS1/NR_110332.1/0;VC=NonCoding;DM=PMS1/DNA_mis_repair;DM=PMS1/DNA_mis_repair;DM=PMS1/DNA_mis_repair;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:G,GT:17:11:5:0:13,4:438,164:0.00,10.98:0.00,2.41:0.00,8.56:0.00,0.73:0.00,0.90:0.00,0.94:60,60:8.2,0.0:0,1:0,0:98,95:39,56:36,32:-,NM_000534.4(PMS1) c.582+4269_582+4270insT:-,NOT_FOUND:-,NOT_FOUND 2 190708807 . G . . NT END=190717380;NT GT ./. 2 190717504 . G . . NT END=190718664;NT GT ./. 2 190718809 . G . . NT END=190718964;NT GT ./. 2 190719855 . G . . NT END=190720554;NT GT ./. 2 190720652 . T . . NT END=190728468;NT GT ./. 2 190728955 . G . . NT END=190732524;NT GT ./. 2 190732656 . G . . NT END=190738221;NT GT ./. 2 190738383 . G . . NT END=190741997;NT GT ./. 2 190742163 . T . . NT END=190921983;NT GT ./. 2 190788844 rs35940796 T TC 443 nt VT=INS;SST=Single;DP=151;DB;DBA=NA;PAF=T/0.1364,TC/0.8636;NP=3206;PC=0.931;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T,TC:150:99:136:1:1,7,1,6,135:11,168,15,153,3932:0.07,10.96,0.20,0.00,443.00:-0.01,2.09,-0.01,0.00,260.86:0.08,8.87,0.20,0.00,182.14:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:57,60,1,51,60:55.0,137.9,162.0,38.8,29.3:1,7,2,0,1:0,0,0,0,0:63,64,115,144,89:48,65,-3,6,59:0,26,0,4,28:chr2 g.190788844_190788845insC (intergenic),chr2 g.190788844_190788845insC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 190789187 rs76648522 T A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,T:18:0:0:0:3,15:95,444:7.41,0.00:0.00,0.00:7.41,0.00:0.52,0.00:0.00,0.00:0.52,0.00:39,60:227.7,17.1:0,0:0,0:23,112:123,37:4,29:chr2 g.190789186T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 190789196 . T C 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:C,T:14:0:0:0:3,11:100,351:8.27,0.00:0.00,0.00:8.27,0.00:0.56,0.00:0.00,0.00:0.56,0.00:39,60:227.7,16.6:0,0:0,0:32,105:114,40:4,22:chr2 g.190789195T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 190789210 . A G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:11:0:0:0:8,3:262,98:0.00,8.43:0.00,0.00:0.00,8.43:0.00,0.60:0.00,0.00:0.00,0.60:59,39:19.5,227.7:0,0:0,0:112,46:38,100:16,4:-,chr2 g.190789209A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 190789217 . T G 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:G,T:11:0:0:0:3,8:90,242:7.64,0.00:0.00,0.00:7.64,0.00:0.60,0.00:0.00,0.00:0.60,0.00:39,59:227.7,19.5:0,0:0,0:53,119:93,31:4,16:chr2 g.190789216T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 190789270 . G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:5:0:0:0:3,2:102,65:10.17,0.00:0.00,0.00:10.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:39,43:227.7,54.5:0,0:0,0:106,130:40,20:4,16:chr2 g.190789269G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 190789287 rs111355135 C T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.890 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:4:0:0:0:1,3:31,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:43,39:109.0,227.7:0,0:0,0:131,123:20,23:0,4:-,chr2 g.190789286C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 190795346 rs6434371 C G 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.08347,G/0.9165 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:180:20.83:15.41:5.42:1.00:1.00:1.00:60:62.0:0:0:28:122:15:chr2 g.190795345C>G (intergenic),chr2 g.190795345C>G (intergenic):0.93,0.93:NOT_FOUND,NOT_FOUND 2 190795402 rs533366680 CAA C 15 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=538;PC=0.123;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CAA,C:6:7:0:6:1,5:35,174:0.00,15.41:0.00,15.68:0.00,-0.27:0.00,0.98:0.00,0.98:0.00,0.81:60,60:36.0,72.2:0,1:0,0:139,68:11,82:0,13:-,chr2 g.190795403_190795404delAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 190800985 rs71401217 T TAC 10 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3217,TAC/0.6783,TACAC/.;NP=2;NP=378;PC=0.028;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:T,TAC:4:6:5:0:1,3:30,165:0.00,10.23:0.00,6.90:0.00,3.33:0.00,0.73:0.00,0.73:0.00,0.89:60,60:0.0,7.0:0,2:0,0:135,31:15,120:0,20:-,chr2 g.190800985_190800986insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 190922365 . C . . NT END=190924787;NT GT ./. 2 190925162 . C . . NT END=190926949;NT GT ./. 2 190927323 . G . . NT END=191045188;NT GT ./. 2 190944618 rs6742199 A T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.506,T/0.494;NP=308;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:126:14.51:4.76:9.74:1.00:1.00:1.00:60:45.2:0:0:64:74:9:chr2 g.190944617A>T (intergenic),chr2 g.190944617A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 191022119 rs62186814 C CACACACACACACAT 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6448,CACACACACACACAT/0.3552;DB;DBA=NA;PAF=C/0.6528,T/0.3472;NP=118;PC=0.005;Gene=C2orf88/NM_001042521.1/1;CC=c.-289-6542_-289-6541insCACACACACACATA;VC=Intron;Gene=C2orf88/NM_001042520.1/0;CC=c.-165+6946_-165+6947insCACACACACACATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,CACACACACACACAT:5:5:3:0:2,3:69,102:0.00,10.17:0.00,8.54:0.00,1.63:0.00,0.78:0.00,0.78:0.00,0.87:60,70:35.0,15.7:0,0:0,0:111,35:2,92:15,2:-,NM_001042520.1(C2orf88) c.-165+6945_-165+6946insACACACACACACAT:-,NOT_FOUND:-,NOT_FOUND 2 191045855 . G . . NT END=191064422;NT GT ./. 2 191064875 . G . . NT END=191069842;NT GT ./. 2 191069959 . C . . NT END=191073605;NT GT ./. 2 191073640 . C . . NT END=191077681;NT GT ./. 2 191077802 . C . . NT END=191109612;NT GT ./. 2 191109695 . C . . NT END=191110879;NT GT ./. 2 191110939 . C . . NT END=191114365;NT GT ./. 2 191114453 . C . . NT END=191116887;NT GT ./. 2 191117034 . C . . NT END=191125881;NT GT ./. 2 191125961 . C . . NT END=191152311;NT GT ./. 2 191152365 . C . . NT END=191155130;NT GT ./. 2 191155212 . C . . NT END=191159271;NT GT ./. 2 191159232 rs188339 A G 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3157,G/0.6843,T/.;Gene=HIBCH/NM_014362.3/1;CC=c.304+40T>C;VC=Intron;Gene=HIBCH/NM_198047.2/0;CC=c.304+40T>C;VC=Intron;DM=HIBCH/ECH_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:8:0:0:9:312:35.49:29.73:5.77:1.00:1.00:1.00:60:34.7:0:0:27:124:9:NM_014362.3(HIBCH) c.304+40T>C,NM_014362.3(HIBCH) c.304+40T>C:0.67,0.67:0.722282,0.722282 2 191159357 . C . . NT END=191161538;NT GT ./. 2 191161622 rs1058180 T C 251 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.3157,C/0.6843;PC=1.000;Gene=HIBCH/NM_014362.3/1;CC=c.136A>G;ProtCh=p.T46A;VC=Missense;Gene=HIBCH/NM_198047.2/0;CC=c.136A>G;ProtCh=p.T46A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:C,G:70:45:0:0:69,1:2186,12:250.92,0.21:128.27,0.21:122.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,136.0:0,0:0,0:74,58:75,84:34,0:NM_014362.3(HIBCH) c.136A>G (p.Thr46Ala),NM_014362.3(HIBCH) c.136A>G (p.Thr46Ala):0.67,0.67:0.724204,0.724204 2 191161680 . C . . NT END=191175479;NT GT ./. 2 191161845 rs2582743 C T 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3283,T/0.6717;Gene=HIBCH/NM_014362.3/1;CC=c.79-166G>A;VC=Intron;Gene=HIBCH/NM_198047.2/0;CC=c.79-166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:525:60.58:0.00:60.58:1.00:0.00:1.00:60:42.9:0:0:110:41:21:NM_014362.3(HIBCH) c.79-166G>A,NM_014362.3(HIBCH) c.79-166G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 2 191175523 . C . . NT END=191184441;NT GT ./. 2 191175639 rs397743364 GT G 17 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=GT/0.2841,G/0.7159;DB;DBA=NA;PAF=GT/0.2841,G/0.7159;NP=2058;PC=0.001;Gene=HIBCH/NM_014362.3/1;CC=c.36-118delA;VC=Intron;Gene=HIBCH/NM_198047.2/0;CC=c.36-118delA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:GT,G:11:2:0:6:5,6:146,177:0.00,17.28:0.00,1.64:0.00,15.65:0.00,0.98:0.00,0.83:0.00,0.98:60,60:20.4,28.5:0,0:0,0:138,70:13,80:8,31:-,NM_014362.3(HIBCH) c.36-118delA:-,0.69:-,NOT_FOUND 2 191184475 rs291466 A G 100 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.5683,G/0.4317;PC=0.129;Gene=HIBCH/NM_014362.3/1;CC=c.2T>C;ProtCh=p.M1?;VC=Missense;Gene=HIBCH/NM_198047.2/0;CC=c.2T>C;ProtCh=p.M1?;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:51:0:0:43,34:1367,1065:0.00,99.78:0.00,48.29:0.00,51.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,39.2:0,0:0,0:58,48:84,99:28,32:-,NM_014362.3(HIBCH) c.2T>C (p.0?):-,0.4:-,0.551899 2 191184528 . C . . NT END=191224828;NT GT ./. 2 191224752 rs2067402 T G 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.7113,G/0.2887;PC=0.005;Gene=INPP1/NM_001128928.1/1;CC=c.-64-13T>G;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.-64-13T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:49:48:0:0:22,27:681,794:63.96,0.00:57.68,0.00:6.28,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.2,4.4:0,0:0,0:66,40:85,110:45,29:NM_001128928.1(INPP1) c.-64-13T>G,-:0.32,-:NOT_FOUND,- 2 191224981 rs4656 G T 139 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.5503,A/.,T/0.4497;PC=0.573;Gene=INPP1/NM_001128928.1/1;CC=c.153G>T;ProtCh=p.T51=;VC=Silent;Gene=INPP1/NM_002194.3/0;CC=c.153G>T;ProtCh=p.T51=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:97:54:0:0:51,46:1719,1461:0.00,138.84:0.00,54.45:0.00,84.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,47.7:0,0:0,0:95,94:52,51:32,30:-,NM_001128928.1(INPP1) c.153G>T (p.(=)):-,0.45:-,0.422574 2 191225033 . G . . NT END=191227352;NT GT ./. 2 191225197 rs2067405 A G 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5503,G/0.4497;PC=0.009;Gene=INPP1/NM_001128928.1/1;CC=c.204+165A>G;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.204+165A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:0:0:0:8,8:261,223:0.00,21.25:0.00,0.00:0.00,21.25:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.5,68.4:0,0:0,0:101,109:49,42:24,22:-,NM_001128928.1(INPP1) c.204+165A>G:-,0.45:-,NOT_FOUND 2 191225238 rs2067406 G C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5361,C/0.4639;PC=0.001;Gene=INPP1/NM_001128928.1/1;CC=c.204+206G>C;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.204+206G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:C,G:9:0:0:0:5,4:145,138:14.19,0.00:0.00,0.00:14.19,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:98.8,9.2:0,0:0,0:95,100:55,49:43,28:NM_001128928.1(INPP1) c.204+206G>C,-:0.46,-:NOT_FOUND,- 2 191225277 rs2067407 A G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5503,G/0.4497;Gene=INPP1/NM_001128928.1/1;CC=c.204+245A>G;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.204+245A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G:5:0:0:0:2,3:58,91:0.00,9.07:0.00,0.00:0.00,9.07:0.00,0.78:0.00,0.00:0.00,0.78:60,60:18.5,119.7:0,0:0,0:106,96:43,55:8,26:-,NM_001128928.1(INPP1) c.204+245A>G:-,0.45:-,NOT_FOUND 2 191225306 rs2067408 C T 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5503,T/0.4497;PC=0.001;Gene=INPP1/NM_001128928.1/1;CC=c.204+274C>T;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.204+274C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:0:0:0:2,2:70,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:18.5,118.0:0,0:0,0:135,112:14,38:8,13:-,NM_001128928.1(INPP1) c.204+274C>T:-,0.45:-,NOT_FOUND 2 191227235 rs2067421 T G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5503,G/0.4497;PC=0.006;Gene=INPP1/NM_001128928.1/1;CC=c.205-118T>G;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.205-118T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:G,T:10:8:0:0:3,7:104,173:9.19,0.00:9.50,0.00:-0.31,0.00:0.62,0.00:0.92,0.00:0.59,0.00:60,60:48.3,13.3:0,0:0,0:33,8:116,143:9,8:NM_001128928.1(INPP1) c.205-118T>G,-:0.45,-:NOT_FOUND,- 2 191227414 . G . . NT END=191231420;NT GT ./. 2 191227492 rs972689 A G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5503,G/0.4497;Gene=INPP1/NM_001128928.1/1;CC=c.265+79A>G;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.265+79A>G;VC=Intron;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,G:11:1:0:0:7,4:220,137:0.00,12.48:0.00,-0.20:0.00,12.67:0.00,0.82:0.00,0.58:0.00,0.98:60,60:36.1,34.2:0,0:0,0:134,100:15,50:7,28:-,NM_001128928.1(INPP1) c.265+79A>G:-,0.45:-,NOT_FOUND 2 191231207 rs1530226 T C 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3205,C/0.6795;PC=0.002;Gene=INPP1/NM_001128928.1/1;CC=c.266-214T>C;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.266-214T>C;VC=Intron;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,T:7:7:0:0:6,1:208,9:22.52,0.00:22.52,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,70:73.0,86.0:0,0:0,0:27,119:123,32:15,0:NM_001128928.1(INPP1) c.266-214T>C,NM_001128928.1(INPP1) c.266-214T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 191231273 rs9784054 C A 38 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3205,A/0.6795;PC=0.003;Gene=INPP1/NM_001128928.1/1;CC=c.266-148C>A;VC=Intron;Gene=INPP1/NM_002194.3/0;CC=c.266-148C>A;VC=Intron;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:12:0:0:12:326:38.17:38.17:0.00:1.00:1.00:0.00:60:49.1:0:0:64:87:17:NM_001128928.1(INPP1) c.266-148C>A,NM_001128928.1(INPP1) c.266-148C>A:0.69,0.69:NOT_FOUND,NOT_FOUND 2 191231458 rs11544940 G A 197 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.3083,A/0.6917;PC=0.946;Gene=INPP1/NM_001128928.1/1;CC=c.303G>A;ProtCh=p.E101=;VC=Silent;Gene=INPP1/NM_002194.3/0;CC=c.303G>A;ProtCh=p.E101=;VC=Silent;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A:53:39:0:0:53:1718:196.92:120.40:76.52:1.00:1.00:1.00:60:56.2:0:0:72:79:37:NM_001128928.1(INPP1) c.303G>A (p.(=)),NM_001128928.1(INPP1) c.303G>A (p.(=)):0.7,0.7:0.646163,0.646163 2 191231503 rs10931450 G A 88 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.006;Gene=INPP1/NM_001128928.1/1;CC=c.348G>A;ProtCh=p.V116=;VC=Silent;Gene=INPP1/NM_002194.3/0;CC=c.348G>A;ProtCh=p.V116=;VC=Silent;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P;DM=INPP1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:34:0:0:27,26:913,816:88.24,0.00:37.64,0.00:50.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.4,31.3:0,0:0,0:51,62:95,87:26,44:NM_001128928.1(INPP1) c.348G>A (p.(=)),-:0.31,-:0.232047,- 2 191231622 . G . . NT END=191233828;NT GT ./. 2 191234004 . G . . NT END=191235569;NT GT ./. 2 191235901 rs1882891 A C 462 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=A/0.1218,C/0.8782,T/.;PC=0.988;Gene=INPP1/NM_001128928.1/1;CC=c.973A>C;ProtCh=p.R325=;VC=Silent;Gene=INPP1/NM_002194.3/0;CC=c.973A>C;ProtCh=p.R325=;VC=Silent;DM=INPP1/Inositol_P GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:130:68:0:0:130:4006:462.17:206.00:256.17:1.00:1.00:1.00:60:41.1:0:0:84:67:35:NM_001128928.1(INPP1) c.973A>C (p.(=)),NM_001128928.1(INPP1) c.973A>C (p.(=)):0.86,0.86:0.84584,0.84584 2 191236129 . A . . NT END=191275827;NT GT ./. 2 191236379 rs2067454 A G 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6865,G/0.3135;PC=0.740;Gene=INPP1/NM_001128928.1/1;CC=c.*251A>G;VC=3UTR;Gene=INPP1/NM_002194.3/0;CC=c.*251A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:9:0:0:0:6,3:161,101:0.00,9.05:0.00,0.00:0.00,9.05:0.00,0.96:0.00,0.00:0.00,0.96:60,60:36.3,33.7:0,0:0,0:94,130:57,21:38,5:-,NM_001128928.1(INPP1) c.*251A>G:-,0.35:-,NOT_FOUND 2 191236440 rs2582755 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5108,T/0.4892;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,T:5:0:0:0:2,3:34,94:0.00,9.44:0.00,0.00:0.00,9.44:0.00,0.78:0.00,0.00:0.00,0.78:60,60:43.0,54.7:0,0:0,0:76,108:74,40:68,1:-,chr2 g.191236439C>T (intergenic):-,0.45:-,NOT_FOUND 2 191237019 rs71943601 GAC G 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GAC/0.9589,G/0.04113;DB;DBA=NA;PAF=GAC/0.9589,G/0.04113;NP=24;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:GAC,G:7:2:0:3:4,3:139,100:0.00,9.36:0.00,-0.24:0.00,9.60:0.00,0.69:0.00,0.73:0.00,0.69:60,60:43.8,14.3:0,0:0,0:86,113:45,37:27,24:-,chr2 g.191237020_191237021delAC (intergenic):-,0.04:-,NOT_FOUND 2 191275737 rs111575051 C T 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.889,T/0.111;PC=0.004;Gene=MFSD6/NM_017694.3/1;CC=c.-176+2508C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:19:0:0:9,11:280,336:0.00,32.88:0.00,28.58:0.00,4.31:0.00,1.00:0.00,1.00:0.00,0.98:60,60:35.2,40.9:0,0:0,0:62,50:75,101:27,39:-,NM_017694.3(MFSD6) c.-176+2508C>T:-,0.1:-,NOT_FOUND 2 191275789 . G GA 7 rn VT=INS;SST=Single;DP=38;PC=0.022;Gene=MFSD6/NM_017694.3/1;CC=c.-176+2571_-176+2572insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,G,GA,D:38:32:4:1:2,31,4,1:57,1003,107,32:3.38,0.00,7.26,1.74:1.63,0.00,6.40,0.82:1.75,0.00,0.87,0.92:0.00,0.00,0.60,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.80,0.00:60,60,60,60:39.0,26.6,32.8,20.0:0,0,0,0:0,0,0,0:15,50,34,11:106,93,110,140:15,29,21,0:-,NM_017694.3(MFSD6) c.-176+2560_-176+2561insA:-,NOT_FOUND:-,NOT_FOUND 2 191275887 . GT G 21 idl,rn VT=DEL;SST=Single;DP=39;PC=0.001;Gene=MFSD6/NM_017694.3/1;CC=c.-176+2675delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:GT,I,G:33:26:8:10:21,4,8:682,244,307:0.00,8.57,20.53:0.00,0.31,8.12:0.00,8.26,12.40:0.00,0.00,0.97:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:15.4,42.0,69.6:0,4,2:0,0,0:105,104,119:18,42,28:22,17,10:-,NM_017694.3(MFSD6) c.-176+2659delT:-,NOT_FOUND:-,NOT_FOUND 2 191275910 . a . . NT END=191276163;NT GT ./. 2 191277360 . A . . NT END=191300702;NT GT ./. 2 191302288 . G . . NT END=191309555;NT GT ./. 2 191309654 . C . . NT END=191328553;NT GT ./. 2 191328617 . A . . NT END=191329565;NT GT ./. 2 191329629 rs62181023 T G 24 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.9505,G/0.04952;Gene=MFSD6/NM_017694.3/1;CC=c.1533-4855T>G;VC=Intron;DM=MFSD6/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:25:0:0:9,17:266,531:23.61,0.00:23.98,0.00:-0.37,0.00:0.99,0.00:1.00,0.00:0.74,0.00:60,60:48.0,11.0:0,0:0,0:80,86:71,55:24,38:NM_017694.3(MFSD6) c.1533-4855T>G,-:0.07,-:NOT_FOUND,- 2 191329665 . T . . NT END=191334483;NT GT ./. 2 191329789 rs4434029 A G 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1238,G/0.8762;PC=0.082;Gene=MFSD6/NM_017694.3/1;CC=c.1533-4695A>G;VC=Intron;DM=MFSD6/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G:10:0:0:0:7,3:233,94:0.00,8.18:0.00,0.00:0.00,8.18:0.00,0.62:0.00,0.00:0.00,0.62:60,60:0.0,67.3:0,0:0,0:118,85:32,35:18,33:-,NM_017694.3(MFSD6) c.1533-4695A>G:-,0.89:-,NOT_FOUND 2 191334459 rs57606972 A ATTTTTAT 8 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1258,AT/.,ATTTTAAT/.,ATTTTTAT/0.8742;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1258,ATTTTTAT/0.8742;NP=215;NP=32;PC=0.905;Gene=MFSD6/NM_017694.3/1;CC=c.1533-6_1533-5insATTTTTT;VC=Intron;DM=MFSD6/MFS_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,ATTTTTAT:13:11:3:0:10,3:320,99:0.00,8.28:0.00,2.40:0.00,5.88:0.00,0.58:0.00,0.91:0.00,0.87:60,60:9.4,0.0:0,0:0,0:75,53:76,97:14,16:-,NM_017694.3(MFSD6) c.1533-25_1533-24insTTTTTAT:-,NOT_FOUND:-,NOT_FOUND 2 191334582 . G . . NT END=191341915;NT GT ./. 2 191341944 rs62181031 A G 46 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.8037,G/0.1963;PC=0.156;Gene=MFSD6/NM_017694.3/1;CC=c.1630+7363A>G;VC=Intron;DM=MFSD6/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:38:0:0:24,15:770,502:0.00,46.06:0.00,37.90:0.00,8.16:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.9,33.5:0,0:0,0:60,48:88,103:39,29:-,NM_017694.3(MFSD6) c.1630+7363A>G:-,0.18:-,NOT_FOUND 2 191342111 . C . . NT END=191353382;NT GT ./. 2 191353545 . G . . NT END=191354493;NT GT ./. 2 191354593 . G . . NT END=191362164;NT GT ./. 2 191354658 rs77440192 C CCT 45 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.1238,CCT/0.8762;DB;DBA=NA;PAF=NA;NP=2597;Gene=MFSD6/NM_017694.3/1;CC=c.1891+66_1891+67insCT;VC=Intron;DM=MFSD6/MFS_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCT:26:1:15:0:11,15:317,451:0.00,44.56:0.00,1.82:0.00,42.74:0.00,1.00:0.00,0.72:0.00,1.00:60,70:1.0,11.0:0,0:0,0:105,84:45,67:30,46:-,NM_017694.3(MFSD6) c.1891+66_1891+67insCT:-,NOT_FOUND:-,NOT_FOUND 2 191362446 . G . . NT END=191364557;NT GT ./. 2 191364583 . G . . NT END=191364740;NT GT ./. 2 191364708 rs72907168 G A 98 nt VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.8067,A/0.1933;PC=0.002;Gene=MFSD6/NM_017694.3/1;CC=c.2173-33G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:65:40:0:0:35,29,1:1010,985,10:98.40,0.00,-0.05:53.63,0.00,0.03:44.78,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,10.0,88.0:0,0,0:0,0,0:59,45,145:91,105,6:40,25,0:NM_017694.3(MFSD6) c.2173-33G>A,-:0.17,-:0.240197,- 2 191364945 . G . . NT END=191373914;NT GT ./. 2 191365123 rs61743479 G A,C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8151,A/0.1849;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:10:A,C,T:8:0:0:0:6,1,1:169,23,7:18.95,1.88,0.38:0.00,0.00,0.00:18.95,1.88,0.38:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.5,198.0,47.0:0,0,0:0,0,0:102,110,92:48,41,59:8,0,0:NM_017694.3(MFSD6) c.*179G>A,NM_017694.3(MFSD6) c.*179G>C:0.17,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 191373775 rs6707244 C T 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.1254,T/0.8746;PC=0.038;Gene=NEMP2/NM_001142645.1/1;CC=c.*140G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:30:0:0:18,12:599,387:0.00,35.66:0.00,35.77:0.00,-0.11:0.00,1.00:0.00,1.00:0.00,0.60:60,60:10.8,41.2:0,0:0,0:38,53:112,96:22,39:-,NM_001142645.1(TMEM194B) c.*140G>A:-,0.89:-,NOT_FOUND 2 191374039 . C . . NT END=191375086;NT GT ./. 2 191375264 . C . . NT END=191379178;NT GT ./. 2 191375375 rs6712426 G A 81 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.3141,A/0.6859;Gene=NEMP2/NM_001142645.1/1;CC=c.954-112C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:6:0:0:25,16:814,515:81.40,0.00:1.89,0.00:79.51,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:49.9,10.9:0,0:0,0:97,98:53,52:32,31:NM_001142645.1(TMEM194B) c.954-112C>T,-:0.69,-:NOT_FOUND,- 2 191375478 rs6727669 T G 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3141,G/0.6859;Gene=NEMP2/NM_001142645.1/1;CC=c.954-215A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:G,T:15:1:0:0:11,4:383,133:39.77,0.00:3.54,0.00:36.23,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:63.8,11.2:0,0:0,0:107,124:44,26:27,7:NM_001142645.1(TMEM194B) c.954-215A>C,-:0.69,-:NOT_FOUND,- 2 191379268 rs4586658 G A 153 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.4675,A/0.5325;PC=0.003;Gene=NEMP2/NM_001142645.1/1;CC=c.864C>T;ProtCh=p.A288=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:97:76:0:0:48,49:1591,1511:152.82,0.00:89.56,0.00:63.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,3.5:0,0:0,0:68,58:79,87:29,27:NM_001142645.1(TMEM194B) c.864C>T (p.(=)),-:0.52,-:0.502628,- 2 191379405 . C . . NT END=191380995;NT GT ./. 2 191380849 . TAAAC T 16 nt VT=DEL;SST=Single;DP=8;PC=0.216;Gene=NEMP2/NM_001142645.1/1;CC=c.727+143_727+146delGTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TAAAC,T:8:8:0:5:3,5:100,162:0.00,16.29:0.00,16.29:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,0.0:0,0:0,0:18,55:133,95:0,39:-,NM_001142645.1(TMEM194B) c.727+143_727+146delGTTT:-,NOT_FOUND:-,NOT_FOUND 2 191381111 . C . . NT END=191382245;NT GT ./. 2 191382340 . C . . NT END=191383461;NT GT ./. 2 191383535 . C . . NT END=191383677;NT GT ./. 2 191383910 . C . . NT END=191389988;NT GT ./. 2 191390105 . C . . NT END=191398737;NT GT ./. 2 191390126 rs10931458 G A 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.3141,A/0.6859;Gene=NEMP2/NM_001142645.1/1;CC=c.98-22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:12:0:0:12,15:371,482:34.77,0.00:13.77,0.00:21.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,28.7:0,0:0,0:109,122:28,28:22,8:NM_001142645.1(TMEM194B) c.98-22C>T,-:0.69,-:0.694043,- 2 191398783 rs5837191 A ACAGC 112 PASS VT=INS;SST=Single;DP=93;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3151,ACAGC/0.6849,ACCAGC/.;NP=2;Gene=NEMP2/NM_001142645.1/1;CC=c.97+501_97+502insGCTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACAGC:93:65:38:0:55,38:1784,1213:0.00,112.11:0.00,55.14:0.00,56.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,19.1:0,0:0,0:80,86:66,61:38,24:-,NM_001142645.1(TMEM194B) c.97+501_97+502insGCTG:-,NOT_FOUND:-,NOT_FOUND 2 191398838 rs61730953 C T 110 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.8049,T/0.1951;PC=0.026;Gene=NEMP2/NM_001142645.1/1;CC=c.97+447G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:55:0:0:43,37:1420,1166:0.00,110.22:0.00,60.61:0.00,49.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,40.6:0,0:0,0:89,66:60,81:34,34:-,NM_001142645.1(TMEM194B) c.97+447G>A:-,0.18:-,NOT_FOUND 2 191399076 . G . . NT END=191399284;NT GT ./. 2 191399082 rs62181053 C T 116 nt VT=SNV;PN=A;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=NEMP2/NM_001142645.1/1;CC=c.97+203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:87:60:0:0:49,38:1576,1240:0.00,116.26:0.00,71.24:0.00,45.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,39.5:0,0:0,0:56,61:91,89:39,28:-,NM_001142645.1(TMEM194B) c.97+203G>A:-,0.17:-,NOT_FOUND 2 191399382 . T . . NT END=191523902;NT GT ./. 2 191399433 rs12693579 T C 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.3165,C/0.6835;Gene=NEMP2/NM_001142645.1/1;CC=c.-52A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:80:32:0:0:1,40,39:12,1150,1221:-0.02,110.18,0.00:0.12,19.58,0.00:-0.14,90.60,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:55.0,35.6,9.7:0,0,0:0,0,0:129,112,113:22,39,34:0,23,25:NM_001142645.1(TMEM194B) c.-52A>G,-:0.69,-:NOT_FOUND,- 2 191523743 rs11684257 T C 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.7632,C/0.2368;Gene=NAB1/NM_005966.3/1;CC=c.-19-141T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:16:0:0:16:499:57.46:57.46:0.00:1.00:1.00:0.00:60:40.0:0:0:33:117:24:NM_005966.3(NAB1) c.-19-141T>C,NM_005966.3(NAB1) c.-19-141T>C:0.22,0.22:NOT_FOUND,NOT_FOUND 2 191523862 . CT C 8 idl,rn VT=DEL;SST=Single;DP=45;NP=8;PC=0.010;Gene=NAB1/NM_005966.3/1;CC=c.-19-6delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,CT,G,I,C:41:42:3:8:1,33,1,2,4:11,1086,12,96,214:-0.08,0.00,-0.03,4.10,7.98:-0.00,0.00,-0.25,3.14,8.78:-0.07,0.00,0.22,0.97,-0.80:0.00,0.00,0.00,0.00,0.57:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.69:60,60,60,60,60:44.0,48.5,0.0,110.5,62.5:0,0,0,1,3:0,0,0,0,0:123,51,8,41,21:15,91,143,109,130:0,25,0,30,11:-,NM_005966.3(NAB1) c.-19-21delT:-,NOT_FOUND:-,NOT_FOUND 2 191524722 . G . . NT END=191535051;NT GT ./. 2 191535186 . G . . NT END=191537826;NT GT ./. 2 191537793 . G GT 14 idl,rn VT=INS;SST=Single;DP=51;NP=10;PC=0.073;Gene=NAB1/NM_005966.3/1;CC=c.954-19dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G,GT,D:48:47:6:8:1,36,6,5:11,1210,185,264:-0.09,0.00,13.84,12.23:0.01,0.00,8.16,8.52:-0.11,0.00,5.67,3.72:0.00,0.00,0.85,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.92,0.00:60,60,60,60:59.0,41.1,32.8,15.6:0,0,0,3:0,0,0,0:125,40,49,43:16,101,96,92:0,22,7,29:-,NM_005966.3(NAB1) c.954-34_954-33insT:-,NOT_FOUND:-,NOT_FOUND 2 191537879 . G . . NT END=191548463;NT GT ./. 2 191548554 . G . . NT END=191550201;NT GT ./. 2 191550365 . G . . NT END=191551926;NT GT ./. 2 191552044 . G . . NT END=191554970;NT GT ./. 2 191552148 rs6716415 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8195,T/0.1805;Gene=NAB1/NM_005966.3/1;CC=c.1375+105C>T;VC=Intron;DM=NAB1/Nab1;DM=NAB1/Nab1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:124:14.31:0.00:14.31:1.00:0.00:1.00:60:84.2:0:0:138:12:8:NM_005966.3(NAB1) c.1375+105C>T,NM_005966.3(NAB1) c.1375+105C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 2 191555060 . C . . NT END=191745810;NT GT ./. 2 191745598 . CGCAGCAGCAGCAGCAGCAGCAGCA C,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 11 idl,nt VT=DEL;SST=Single;DP=9;NP=74 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:37:A,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,C:8:9:3:5:1,2,5:32,100,105:2.72,6.25,11.21:2.72,4.69,11.21:0.00,1.56,0.00:0.00,0.00,0.96:0.00,0.00,0.96:0.00,0.00,0.70:60,60,60:32.0,15.5,8.6:0,1,0:0,0,0:0,34,48:150,102,103:0,8,20:NM_014905.4(GLS) c.-212GCA[8],NM_014905.4(GLS) c.-212GCA[19]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 191746197 . G . . NT END=191759877;NT GT ./. 2 191759677 rs3217036 AT A 20 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AT/0.6751,A/0.3249;NP=590;PC=0.087;Gene=GLS/NM_001256310.1/0;CC=c.387-193delT;VC=Intron;Gene=GLS/NM_014905.4/1;CC=c.387-193delT;VC=Intron;DM=GLS/Ank_2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:AT,A:8:8:0:6:2,6:67,192:0.00,20.11:0.00,20.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,0.0:0,0:0,0:53,19:97,131:40,15:-,NM_014905.4(GLS) c.387-200delT:-,0.34:-,NOT_FOUND 2 191759975 . G . . NT END=191760329;NT GT ./. 2 191760452 . G . . NT END=191765289;NT GT ./. 2 191765206 rs3771313 T C 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.611,C/0.389;Gene=GLS/NM_001256310.1/0;CC=c.606-84T>C;VC=Intron;Gene=GLS/NM_014905.4/1;CC=c.606-84T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:40:39:0:0:20,1,19:624,10,601:60.16,0.01,0.00:49.24,0.02,0.00:10.93,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:41.4,140.0,11.1:0,0,0:0,0,0:46,28,59:100,94,92:24,0,40:NM_014905.4(GLS) c.606-84T>C,-:0.38,-:NOT_FOUND,- 2 191765420 . G . . NT END=191766672;NT GT ./. 2 191766753 . G . . NT END=191769729;NT GT ./. 2 191769894 . G . . NT END=191774988;NT GT ./. 2 191774763 rs2355571 C T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7624,T/0.2376;Gene=GLS/NM_001256310.1/0;CC=c.980-226C>T;VC=Intron;Gene=GLS/NM_014905.4/1;CC=c.980-226C>T;VC=Intron;DM=GLS/Glutaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:5:0:0:2,3:69,88:0.00,8.77:0.00,8.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:5.0,47.3:0,0:0,0:25,101:125,50:15,34:-,NM_014905.4(GLS) c.980-226C>T:-,0.25:-,NOT_FOUND 2 191775048 . G . . NT END=191777918;NT GT ./. 2 191777768 rs398080924 AT A 76 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=AT/0.1088,A/0.8912;DB;DBA=NA;PAF=AT/0.1088,A/0.8912;DB;DBA=NA;PAF=AT/0.1088,A/0.8912;NP=111;PC=0.309;Gene=GLS/NM_001256310.1/0;CC=c.1038+2732delT;VC=Intron;Gene=GLS/NM_014905.4/1;CC=c.1038+2732delT;VC=Intron;DM=GLS/Glutaminase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A:22:20:0:22:22:652:75.68:67.99:7.69:1.00:1.00:1.00:60:12.9:0:0:36:114:22:NM_014905.4(GLS) c.1038+2722delT,NM_014905.4(GLS) c.1038+2722delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 191778551 . a . . NT END=191784353;NT GT ./. 2 191784550 . T . . NT END=191785749;NT GT ./. 2 191785783 . G . . NT END=191785870;NT GT ./. 2 191785930 . G . . NT END=191788642;NT GT ./. 2 191788710 . G . . NT END=191789268;NT GT ./. 2 191789320 . G . . NT END=191792031;NT GT ./. 2 191789523 rs3732212 C T 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7023,T/0.2977;Gene=GLS/NM_001256310.1/0;CC=c.1248+204C>T;VC=Intron;Gene=GLS/NM_014905.4/1;CC=c.1248+204C>T;VC=Intron;DM=GLS/Glutaminase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T:6:0:0:0:1,5:9,144:0.00,15.65:0.00,0.00:0.00,15.65:0.00,1.00:0.00,0.00:0.00,1.00:60,60:70.0,31.8:0,0:0,0:127,123:24,27:0,22:NM_014905.4(GLS) c.1248+204C>T,NM_014905.4(GLS) c.1248+204C>T:0.32,0.32:NOT_FOUND,NOT_FOUND 2 191792209 . G . . NT END=191795162;NT GT ./. 2 191795295 . G . . NT END=191796270;NT GT ./. 2 191796364 . G . . NT END=191797382;NT GT ./. 2 191800016 . T . . NT END=191818290;NT GT ./. 2 191818065 rs6434430 T C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1284,C/0.8716;Gene=GLS/NM_014905.4/1;CC=c.1651-226T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:172:19.58:19.58:0.00:1.00:1.00:0.00:60:38.6:0:0:30:121:14:NM_014905.4(GLS) c.1651-226T>C,NM_014905.4(GLS) c.1651-226T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 191818353 . G . . NT END=191819309;NT GT ./. 2 191818676 rs57991546 ATGTGTG A,ATGTGTGTG 11 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=22;PC=0.067;DM=GLS/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:24:ATGTGTGTG,A:4:1:3:2:3,1:97,30:10.76,2.88:3.75,0.00:7.00,2.88:0.85,0.00:0.83,0.00:0.99,0.00:60,60:10.3,49.0:0,0:0,0:42,85:109,65:17,0:NM_014905.4(GLS) c.1712+325_1712+330delTGTGTG,NM_014905.4(GLS) c.1712+329_1712+330dupTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 191819387 . G . . NT END=191819464;NT GT ./. 2 191819545 . G . . NT END=191827555;NT GT ./. 2 191827713 . T . . NT END=191835428;NT GT ./. 2 191835444 . C . . NT END=191839555;NT GT ./. 2 191835596 rs3771300 T G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5573,G/0.4427;Gene=STAT1/NM_007315.3/1;CC=c.2239-153A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:138:G,T:14:1:0:0:5,9:143,306:12.71,0.00:-0.19,0.00:12.90,0.00:0.90,0.00:0.57,0.00:0.99,0.00:60,60:28.6,0.0:0,0:0,0:123,84:27,67:15,38:NM_007315.3(STAT1) c.2239-153A>C,-:0.43,-:NOT_FOUND,- 2 191837542 rs34975356 G GGT 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;NP=56;Gene=STAT1/NM_007315.3/1;CC=c.2238+2013_2238+2014insAC;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:G,GGT:5:3:4:0:1,4:26,125:0.00,13.32:0.00,5.12:0.00,8.20:0.00,0.96:0.00,0.99:0.00,1.00:60,60:0.0,12.2:0,0:0,0:143,48:8,101:0,10:-,NM_007315.3(STAT1) c.2238+2013_2238+2014insAC:-,NOT_FOUND:-,NOT_FOUND 2 191839659 . C . . NT END=191840262;NT GT ./. 2 191840352 rs397868788 CT C 33 idl,rn VT=DEL;SST=Single;DP=92;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;PC=0.001;Gene=STAT1/NM_007315.3/1;CC=c.2135+185delA;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.*181delA;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:83:69:7:24:60,3,6,14:1886,54,233,676:0.00,2.06,13.90,33.16:0.00,-0.25,10.63,26.83:0.00,2.31,3.27,6.33:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:19.5,61.3,24.2,15.4:0,1,1,8:0,0,0,0:81,55,70,56:60,79,81,94:31,2,12,32:-,NM_007315.3(STAT1) c.2135+185delA:-,NOT_FOUND:-,NOT_FOUND 2 191840614 . C . . NT END=191841565;NT GT ./. 2 191841752 . C . . NT END=191843581;NT GT ./. 2 191841759 rs2066804 G A 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.7734,A/0.2266;Gene=STAT1/NM_007315.3/1;CC=c.1874-8C>T;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.1874-8C>T;VC=Intron;DM=STAT1/SH2;DM=STAT1/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:21:0:0:20,37:639,1194:57.40,0.00:6.87,0.00:50.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,8.3:0,0:0,0:109,82:39,47:27,26:NM_007315.3(STAT1) c.1874-8C>T,-:0.28,-:0.217361,- 2 191841879 rs7597768 A G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.771,G/0.229;Gene=STAT1/NM_007315.3/1;CC=c.1874-128T>C;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.1874-128T>C;VC=Intron;DM=STAT1/SH2;DM=STAT1/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:0:0:0:7,8:222,265:0.00,25.82:0.00,0.00:0.00,25.82:0.00,1.00:0.00,0.00:0.00,1.00:60,60:28.7,63.4:0,0:0,0:132,98:19,48:16,16:-,NM_007315.3(STAT1) c.1874-128T>C:-,0.28:-,NOT_FOUND 2 191843728 . C . . NT END=191844497;NT GT ./. 2 191843830 rs2280235 A G 55 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.7422,G/0.2578;Gene=STAT1/NM_007315.3/1;CC=c.1728-103T>C;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.1728-103T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:35:4:0:0:16,18,1:480,570,7:0.00,55.35,-0.08:0.00,6.24,-0.01:0.00,49.11,-0.07:0.00,1.00,0.00:0.00,0.95,0.00:0.00,1.00,0.00:60,60,60:14.8,35.3,102.0:0,0,0:0,0,0:124,111,79:26,40,72:22,18,0:-,NM_007315.3(STAT1) c.1728-103T>C:-,0.3:-,NOT_FOUND 2 191844593 . C . . NT END=191845345;NT GT ./. 2 191845396 . C . . NT END=191847108;NT GT ./. 2 191847245 . C . . NT END=191848367;NT GT ./. 2 191848312 rs12477076 T C 113 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=3475;Gene=STAT1/NM_007315.3/1;CC=c.1446+56A>G;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.1446+56A>G;VC=Intron;DM=STAT1/STAT_bind;DM=STAT1/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:28:0:0:29:987:112.52:92.86:19.67:1.00:1.00:1.00:60:37.3:0:0:51:99:23:NM_007315.3(STAT1) c.1446+56A>G,NM_007315.3(STAT1) c.1446+56A>G:1,1:NOT_FOUND,NOT_FOUND 2 191848467 . C . . NT END=191849035;NT GT ./. 2 191849120 . C . . NT END=191850344;NT GT ./. 2 191850099 rs2280234 A G 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5929,G/0.4071;Gene=STAT1/NM_007315.3/1;CC=c.1263+246T>C;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.1263+246T>C;VC=Intron;DM=STAT1/STAT_bind;DM=STAT1/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:5:5:0:0:1,4:34,116:0.00,12.39:0.00,12.39:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,53.8:0,0:0,0:119,29:32,122:0,1:-,NM_007315.3(STAT1) c.1263+246T>C:-,0.4:-,NOT_FOUND 2 191850387 . C . . NT END=191851579;NT GT ./. 2 191850566 rs2280233 T C 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7021,C/0.2979;Gene=STAT1/NM_007315.3/1;CC=c.1222-180A>G;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.1222-180A>G;VC=Intron;DM=STAT1/STAT_bind;DM=STAT1/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,T:10:1:0:0:5,5:167,154:16.08,0.00:-0.30,0.00:16.38,0.00:0.95,0.00:0.67,0.00:1.00,0.00:60,60:33.4,6.4:0,0:0,0:95,122:56,25:26,5:NM_007315.3(STAT1) c.1222-180A>G,-:0.3,-:NOT_FOUND,- 2 191851674 . C . . NT END=191851764;NT GT ./. 2 191851795 . C . . NT END=191854340;NT GT ./. 2 191854401 . C . . NT END=191855953;NT GT ./. 2 191856047 . C . . NT END=191859786;NT GT ./. 2 191857200 . TA T 8 rn VT=DEL;SST=Single;DP=7;NP=14;PC=1.000;Gene=STAT1/NM_007315.3/1;CC=c.945-1155delT;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.945-1155delT;VC=Intron;DM=STAT1/STAT_alpha;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:TA,I,T:7:7:1:3:3,1,3:102,24,89:0.00,1.83,8.50:0.00,1.83,8.50:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,60:0.0,18.0,2.3:0,0,0:0,0,0:59,71,103:92,79,48:10,0,17:-,NM_007315.3(STAT1) c.945-1155delT:-,NOT_FOUND:-,NOT_FOUND 2 191859946 . C . . NT END=191862581;NT GT ./. 2 191862734 . C . . NT END=191862942;NT GT ./. 2 191863035 . C . . NT END=191864351;NT GT ./. 2 191864431 . C . . NT END=191865799;NT GT ./. 2 191865890 . C . . NT END=191872288;NT GT ./. 2 191872388 . C . . NT END=191873688;NT GT ./. 2 191873553 rs10199181 A T 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.502,T/0.498;Gene=STAT1/NM_007315.3/1;CC=c.273+136T>A;VC=Intron;Gene=STAT1/NM_139266.2/0;CC=c.273+136T>A;VC=Intron;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT_int GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,T:14:14:0:0:4,10:134,317:0.00,32.83:0.00,32.83:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.5,41.4:0,0:0,0:97,38:54,112:36,30:-,NM_007315.3(STAT1) c.273+136T>A:-,0.53:-,NOT_FOUND 2 191873834 . C . . NT END=191874601;NT GT ./. 2 191874667 rs2066802 A G 96 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.8854,G/0.1146;PC=0.156;Gene=STAT1/NM_007315.3/1;CC=c.63T>C;ProtCh=p.L21=;VC=Silent;Gene=STAT1/NM_139266.2/0;CC=c.63T>C;ProtCh=p.L21=;VC=Silent;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT_int;DM=STAT1/STAT1_TAZ2bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:40:0:0:32,30:969,999:0.00,95.59:0.00,42.65:0.00,52.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,36.4:0,0:0,0:64,93:71,52:31,26:-,NM_007315.3(STAT1) c.63T>C (p.(=)):-,0.11:-,0.065508 2 191874731 . C . . NT END=191894565;NT GT ./. 2 191894593 . C . . NT END=191895697;NT GT ./. 2 191895807 . C . . NT END=191896175;NT GT ./. 2 191896243 . C . . NT END=191897683;NT GT ./. 2 191897876 . C . . NT END=191898215;NT GT ./. 2 191898353 . C . . NT END=191898636;NT GT ./. 2 191898732 . C . . NT END=191899273;NT GT ./. 2 191898886 rs2459609 T C 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.004992,C/0.995,G/.;NP=1458;Gene=STAT4/NM_003151.3/1;CC=c.1621-155A>G;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.1621-155A>G;VC=Intron;DM=STAT4/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:1:0:0:12:345:40.19:3.38:36.81:1.00:1.00:1.00:60:35.7:0:0:74:76:26:NM_003151.3(STAT4) c.1621-155A>G,NM_003151.3(STAT4) c.1621-155A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 191899324 . C . . NT END=191900889;NT GT ./. 2 191901026 . C . . NT END=191903924;NT GT ./. 2 191904024 . C . . NT END=191905790;NT GT ./. 2 191905875 . C . . NT END=191919215;NT GT ./. 2 191919261 . C . . NT END=191922743;NT GT ./. 2 191919354 rs11676659 A G 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.9135,G/0.08646;PC=0.014;Gene=STAT4/NM_003151.3/1;CC=c.1207-94T>C;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.1207-94T>C;VC=Intron;DM=STAT4/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:5:0:0:13,17:440,547:0.00,53.89:0.00,2.62:0.00,51.27:0.00,1.00:0.00,0.98:0.00,1.00:60,60:6.1,39.6:0,0:0,0:109,108:40,42:31,19:-,NM_003151.3(STAT4) c.1207-94T>C:-,0.08:-,NOT_FOUND 2 191922838 . C . . NT END=191922927;NT GT ./. 2 191922841 rs3024866 G A 79 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.5036,A/0.4964;PC=0.001;Gene=STAT4/NM_003151.3/1;CC=c.1113-4C>T;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.1113-4C>T;VC=Intron;DM=STAT4/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:41:0:0:26,34:846,1108:79.18,0.00:46.25,0.00:32.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.2,4.4:0,0:0,0:109,96:40,52:25,22:NM_003151.3(STAT4) c.1113-4C>T,-:0.54,-:0.570121,- 2 191922946 . C . . NT END=191923435;NT GT ./. 2 191923026 rs1818625 T C 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4688,C/0.5312;PC=0.007;Gene=STAT4/NM_003151.3/1;CC=c.1095-81A>G;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.1095-81A>G;VC=Intron;DM=STAT4/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:10:0:0:17,8:564,261:57.70,0.00:18.36,0.00:39.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.7,22.4:0,0:0,0:118,111:33,40:19,11:NM_003151.3(STAT4) c.1095-81A>G,-:0.56,-:NOT_FOUND,- 2 191923064 rs1850442 T C 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.0621,C/0.9379;Gene=STAT4/NM_003151.3/1;CC=c.1095-119A>G;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.1095-119A>G;VC=Intron;DM=STAT4/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:1:0:0:14:389:45.43:3.58:41.86:1.00:1.00:1.00:60:55.9:0:0:98:52:42:NM_003151.3(STAT4) c.1095-119A>G,NM_003151.3(STAT4) c.1095-119A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 191923496 . C . . NT END=191926454;NT GT ./. 2 191923543 rs3024865 G C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9135,A/.,C/0.08646;Gene=STAT4/NM_003151.3/1;CC=c.1035-48C>G;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.1035-48C>G;VC=Intron;DM=STAT4/STAT_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:22:10:0:0:8,14:280,475:25.55,0.00:8.11,0.00:17.45,0.00:0.99,0.00:0.98,0.00:1.00,0.00:60,60:56.1,2.4:0,0:0,0:76,116:58,34:17,12:NM_003151.3(STAT4) c.1035-48C>G,-:0.1,-:0.125833,- 2 191926548 . C . . NT END=191927487;NT GT ./. 2 191927647 . C . . NT END=191929532;NT GT ./. 2 191929685 . C . . NT END=191931155;NT GT ./. 2 191931242 . C . . NT END=191934418;NT GT ./. 2 191934498 . C . . NT END=191937823;NT GT ./. 2 191937917 . C . . NT END=191940952;NT GT ./. 2 191941052 . C . . NT END=192011338;NT GT ./. 2 191941054 rs76815247 G GA 7 rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=33;PC=1.000;Gene=STAT4/NM_003151.3/1;CC=c.274-4dupT;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.274-4dupT;VC=Intron;DM=STAT4/STAT_int;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:G,GA:38:24:3:0:35,3:1125,99:0.00,6.78:0.00,2.24:0.00,4.54:0.00,0.38:0.00,0.74:0.00,0.81:60,60:5.1,9.0:0,0:0,0:86,76:57,75:19,25:-,NM_003151.3(STAT4) c.274-4_274-3insT:-,NOT_FOUND:-,NOT_FOUND 2 192011224 rs146410303 A T 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=4;PC=0.003;Gene=STAT4/NM_003151.3/1;CC=c.273+115T>A;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.273+115T>A;VC=Intron;DM=STAT4/STAT_int GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:17:0:0:8,9:239,294:0.00,28.60:0.00,27.25:0.00,1.35:0.00,1.00:0.00,1.00:0.00,0.69:60,60:9.2,55.8:0,0:0,0:25,43:126,107:4,31:-,NM_003151.3(STAT4) c.273+115T>A:-,0.01:-,NOT_FOUND 2 192011484 . C . . NT END=192012801;NT GT ./. 2 192011485 . T TA 23 rn VT=INS;SST=Single;DP=74;NP=2;PC=1.000;Gene=STAT4/NM_003151.3/1;CC=c.129-3dupT;VC=Intron;Gene=STAT4/NM_001243835.1/0;CC=c.129-3dupT;VC=Intron;DM=STAT4/STAT_int;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,T,TA,D:73:36:10:3:2,59,10,2:53,1752,303,100:2.47,0.00,22.68,3.72:-0.22,0.00,7.87,1.99:2.69,0.00,14.82,1.73:0.00,0.00,0.99,0.00:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:60,60,60,60:54.5,11.5,8.4,0.0:2,0,0,1:0,0,0,0:32,89,87,49:118,58,57,101:5,31,25,9:-,NM_003151.3(STAT4) c.129-3_129-2insT:-,NOT_FOUND:-,NOT_FOUND 2 192012931 . C . . NT END=192015672;NT GT ./. 2 192015928 rs2278940 C T 291 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=215;DB;DBA=NA;PAF=NA;Gene=STAT4/NM_003151.3/1;CC=c.-257G>A;VC=5UTR;Gene=STAT4/NM_001243835.1/0;CC=c.-2+132G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:215:137:0:0:2,115,2,96:28,3665,22,3089:0.07,0.00,-0.22,291.43:-0.22,0.00,-0.22,148.16:0.29,0.00,0.00,143.27:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:144.5,7.9,94.0,38.1:0,0,0,0:0,0,0,0:43,63,56,75:98,85,93,72:8,28,45,33:-,NM_003151.3(STAT4) c.-257G>A:-,0.1:-,NOT_FOUND 2 192015987 . G . . NT END=192016059;NT GT ./. 2 192016323 . G . . NT END=192037309;NT GT ./. 2 192037336 . T . . NT END=192112683;NT GT ./. 2 192037582 rs7589450 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:C,T:16:0:0:0:7,9:121,220:0.00,21.61:0.00,0.00:0.00,21.61:0.00,1.00:0.00,0.00:0.00,1.00:60,60:74.9,65.7:0,0:0,0:60,95:91,54:19,22:-,chr2 g.192037581C>T (intergenic):-,0.37:-,NOT_FOUND 2 192037618 rs574764548 T TA 20 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:G,T,TA:14:0:8:0:1,5,8:12,109,202:0.46,0.00,20.31:0.00,0.00,0.00:0.46,0.00,20.31:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:201.0,41.2,62.8:0,0,0:0,0,0:43,96,121:95,55,24:0,19,10:-,chr2 g.192037618_192037619insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 192112652 rs34765012 A G 305 nt VT=SNV;PN=T;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.-10+2300A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.-10+2300A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.-10+2315A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:81:70:0:0:81:2662:304.69:212.64:92.06:1.00:1.00:1.00:60:42.5:0:0:57:90:32:NM_001130158.1(MYO1B) c.-10+2300A>G,NM_001130158.1(MYO1B) c.-10+2300A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 2 192112735 . G . . NT END=192128004;NT GT ./. 2 192128115 . G . . NT END=192141612;NT GT ./. 2 192141343 rs12989203 G A 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003;Gene=MYO1B/NM_001130158.1/1;CC=c.-9-270G>A;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.-9-270G>A;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.-9-270G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:32.5:0:0:62:89:36:NM_001130158.1(MYO1B) c.-9-270G>A,NM_001130158.1(MYO1B) c.-9-270G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 2 192141757 . G . . NT END=192160836;NT GT ./. 2 192160953 . G . . NT END=192194660;NT GT ./. 2 192161058 rs397732016 G GT 27 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1616;Gene=MYO1B/NM_001130158.1/1;CC=c.251+114dupT;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.251+114dupT;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.251+114dupT;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_TH1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:G,GT:10:0:9:0:2,8:67,280:0.00,26.58:0.00,0.00:0.00,26.58:0.00,1.00:0.00,0.00:0.00,1.00:60,60:28.0,5.8:0,1:0,0:139,59:12,91:1,40:-,NM_001130158.1(MYO1B) c.251+106_251+107insT:-,NOT_FOUND:-,NOT_FOUND 2 192194756 . G . . NT END=192206186;NT GT ./. 2 192206292 . G . . NT END=192210961;NT GT ./. 2 192211009 . G . . NT END=192214887;NT GT ./. 2 192214833 rs67146186 A T 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.499-55A>T;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.499-55A>T;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.499-55A>T;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:28:27:0:0:20,8:648,273:0.00,23.84:0.00,17.96:0.00,5.89:0.00,0.98:0.00,1.00:0.00,0.97:60,60:16.9,49.6:0,0:0,0:50,34:94,117:27,21:-,NM_001130158.1(MYO1B) c.499-55A>T:-,0.33:-,0.339833 2 192214952 . G . . NT END=192225356;NT GT ./. 2 192214966 rs59642822 T C 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.026;Gene=MYO1B/NM_001130158.1/1;CC=c.562+15T>C;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.562+15T>C;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.562+15T>C;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:23:0:0:13,25:440,819:39.60,0.00:20.55,0.00:19.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.7,2.8:0,0:0,0:120,106:28,42:21,18:NM_001130158.1(MYO1B) c.562+15T>C,-:0.34,-:0.345432,- 2 192225294 rs2138913 A G 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.563-63A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.563-63A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.563-63A>G;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:17:0:0:11,7:293,216:0.00,19.73:0.00,16.80:0.00,2.93:0.00,0.98:0.00,1.00:0.00,0.79:60,60:33.7,33.9:1,0:0,0:31,36:119,115:17,18:-,NM_001130158.1(MYO1B) c.563-63A>G:-,0.37:-,NOT_FOUND 2 192225456 . G . . NT END=192226993;NT GT ./. 2 192225477 rs71403288 G GTGTTGT 19 rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;NP=58;NP=87;Gene=MYO1B/NM_001130158.1/1;CC=c.661+60_661+61insTTGTTG;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.661+60_661+61insTTGTTG;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.661+60_661+61insTTGTTG;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:G,GTGTTGT:34:19:8:0:27,7:805,270:0.00,19.44:0.00,10.16:0.00,9.28:0.00,0.95:0.00,0.96:0.00,0.99:60,60:8.3,1.0:0,1:0,0:108,48:39,101:16,15:-,NM_001130158.1(MYO1B) c.661+22_661+23insTGTTGT:-,NOT_FOUND:-,NOT_FOUND 2 192226908 rs2271769 G C 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MYO1B/NM_001130158.1/1;CC=c.662-86G>C;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.662-86G>C;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.662-86G>C;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:22:22:0:0:11,11:339,292:32.60,0.00:29.17,0.00:3.43,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:33.0,12.6:0,0:0,0:47,28:101,121:6,7:NM_001130158.1(MYO1B) c.662-86G>C,-:0.37,-:NOT_FOUND,- 2 192227098 . G . . NT END=192228429;NT GT ./. 2 192228602 . G . . NT END=192228883;NT GT ./. 2 192229003 . G . . NT END=192234267;NT GT ./. 2 192229248 rs59919387 GGT G 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=145;PC=0.003;Gene=MYO1B/NM_001130158.1/1;CC=c.1032+249_1032+250delGT;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1032+249_1032+250delGT;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1032+249_1032+250delGT;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:4:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:2.5:0:0:85:65:31:NM_001130158.1(MYO1B) c.1032+247_1032+248delGT,NM_001130158.1(MYO1B) c.1032+247_1032+248delGT:0.55,0.55:NOT_FOUND,NOT_FOUND 2 192234355 . G . . NT END=192234952;NT GT ./. 2 192235019 . G . . NT END=192246187;NT GT ./. 2 192235228 rs58911860 AGT A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7;Gene=MYO1B/NM_001130158.1/1;CC=c.1185+234_1185+235delTG;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1185+234_1185+235delTG;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1185+234_1185+235delTG;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:AGT,A:3:0:0:3:1,2:29,99:0.00,6.45:0.00,0.00:0.00,6.45:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,5.5:0,1:0,0:124,54:26,97:0,35:-,NM_001130158.1(MYO1B) c.1185+211_1185+212delGT:-,NOT_FOUND:-,NOT_FOUND 2 192246293 . G . . NT END=192248005;NT GT ./. 2 192246541 rs115441087 A G 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.1290+249A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1290+249A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1290+249A>G;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:0:0:0:3,2:95,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:60,60:4.3,34.5:0,0:0,0:124,90:26,59:25,25:-,NM_001130158.1(MYO1B) c.1290+249A>G:-,0.04:-,NOT_FOUND 2 192247808 rs34460997 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.1291-198A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1291-198A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1291-198A>G;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:288,275:0.00,26.21:0.00,26.21:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,62.6:0,0:0,0:49,34:101,114:45,25:-,NM_001130158.1(MYO1B) c.1291-198A>G:-,0.78:-,NOT_FOUND 2 192247836 rs4641883 C T 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.1291-170C>T;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1291-170C>T;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1291-170C>T;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:13,10:457,291:0.00,27.02:0.00,27.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,55.5:0,0:0,0:32,42:117,107:13,21:-,NM_001130158.1(MYO1B) c.1291-170C>T:-,0.81:-,NOT_FOUND 2 192248069 . G . . NT END=192250609;NT GT ./. 2 192248220 rs58972517 G GTA 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.010;Gene=MYO1B/NM_001130158.1/1;CC=c.1353+168_1353+169insTA;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1353+168_1353+169insTA;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1353+168_1353+169insTA;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,G,GTA:5:0:3:0:1,1,3:22,33,90:1.88,0.00,9.37:0.00,0.00,0.00:1.88,0.00,9.37:0.00,0.00,0.78:0.00,0.00,0.00:0.00,0.00,0.78:60,60,60:104.0,0.0,28.3:0,0,0:0,0,0:96,140,66:20,9,71:0,0,13:-,NM_001130158.1(MYO1B) c.1353+152_1353+153insTA:-,NOT_FOUND:-,NOT_FOUND 2 192250543 rs13000398 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.228;Gene=MYO1B/NM_001130158.1/1;CC=c.1354-67A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1354-67A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1354-67A>G;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:25:0:0:20,9:580,298:0.00,26.31:0.00,22.16:0.00,4.16:0.00,0.99:0.00,1.00:0.00,0.90:60,60:18.4,90.4:0,0:0,0:38,60:107,91:28,23:-,NM_001130158.1(MYO1B) c.1354-67A>G:-,0.81:-,NOT_FOUND 2 192250568 rs13026888 T C 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.1354-42T>C;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1354-42T>C;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1354-42T>C;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:34:0:0:14,25:429,775:38.51,0.00:32.44,0.00:6.07,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:85.7,4.0:0,0:0,0:45,34:101,115:36,24:NM_001130158.1(MYO1B) c.1354-42T>C,-:0.81,-:0.805321,- 2 192250726 rs13018796 G A 91 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MYO1B/NM_001130158.1/1;CC=c.1470G>A;ProtCh=p.E490=;VC=Silent;Gene=MYO1B/NM_012223.3/0;CC=c.1470G>A;ProtCh=p.E490=;VC=Silent;Gene=MYO1B/NM_001161819.1/0;CC=c.1470G>A;ProtCh=p.E490=;VC=Silent;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:47:0:0:31,43:980,1419:90.94,0.00:46.45,0.00:44.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,1.4:0,0:0,0:60,95:81,56:25,31:NM_001130158.1(MYO1B) c.1470G>A (p.(=)),-:0.81,-:0.798324,- 2 192250811 . G . . NT END=192251949;NT GT ./. 2 192250890 rs111552879 G A 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.1554+80G>A;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1554+80G>A;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1554+80G>A;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:1:0:0:14,10:427,287:42.34,0.00:-0.34,0.00:42.69,0.00:1.00,0.00:0.72,0.00:1.00,0.00:60,60:35.7,16.9:0,0:0,0:110,96:39,54:28,33:NM_001130158.1(MYO1B) c.1554+80G>A,-:0.05,-:NOT_FOUND,- 2 192252177 . G . . NT END=192255017;NT GT ./. 2 192252411 rs7558242 A G 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.1781+235A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.1781+235A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.1781+235A>G;VC=Intron;DM=MYO1B/Myosin_head;DM=MYO1B/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:234:26.74:0.00:26.74:1.00:0.00:1.00:60:52.9:0:0:95:56:16:NM_001130158.1(MYO1B) c.1781+235A>G,NM_001130158.1(MYO1B) c.1781+235A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 192255219 . G . . NT END=192256833;NT GT ./. 2 192256928 . G . . NT END=192257798;NT GT ./. 2 192257949 . G . . NT END=192261154;NT GT ./. 2 192261224 . G . . NT END=192265107;NT GT ./. 2 192261313 rs372704072 GGCTCCTCT G 26 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=138;Gene=MYO1B/NM_001130158.1/1;CC=c.2295+92_2295+99delCTCCTCTG;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.2295+92_2295+99delCTCCTCTG;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.2295+92_2295+99delCTCCTCTG;VC=Intron;DM=MYO1B/IQ;DM=MYO1B/IQ;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGCTCCTCT,G:22:3:0:9:13,9:421,283:0.00,26.13:0.00,1.40:0.00,24.73:0.00,1.00:0.00,0.81:0.00,1.00:60,60:1.3,6.4:1,0:0,0:102,77:49,74:33,40:-,NM_001130158.1(MYO1B) c.2295+91_2295+98delGCTCCTCT:-,0.04:-,NOT_FOUND 2 192265195 . G . . NT END=192265474;NT GT ./. 2 192265562 . G . . NT END=192267357;NT GT ./. 2 192265712 rs115149685 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.2469+151T>C;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.2382+518T>C;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.2469+151T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:0:0:0:7,7:237,197:22.84,0.00:0.00,0.00:22.84,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.3,26.6:0,0:0,0:75,100:73,51:32,41:NM_001130158.1(MYO1B) c.2469+151T>C,-:0.04,-:NOT_FOUND,- 2 192267445 . G . . NT END=192272840;NT GT ./. 2 192272916 . G . . NT END=192273769;NT GT ./. 2 192272933 rs2271768 A G 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.2631+18A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.2457+18A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.2631+18A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:36:25:0:0:16,1,19:507,14,659:0.00,0.28,64.50:0.00,-0.10,25.45:0.00,0.38,39.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.4,52.0,36.8:0,0,0:0,0,0:90,3,107:50,147,40:16,0,19:-,NM_001130158.1(MYO1B) c.2631+18A>G:-,0.17:-,0.177407 2 192273583 rs2203749 A G 57 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.2632-187A>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.2458-187A>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.2632-187A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:499:57.05:57.05:0.00:1.00:1.00:0.00:60:42.7:0:0:35:116:23:NM_001130158.1(MYO1B) c.2632-187A>G,NM_001130158.1(MYO1B) c.2632-187A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 192273905 . G . . NT END=192275791;NT GT ./. 2 192274001 rs34296473 T C 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.2766+97T>C;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.2592+97T>C;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.2766+97T>C;VC=Intron;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:1:0:0:13,13:367,420:35.00,0.00:2.78,0.00:32.23,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:60.2,3.8:0,0:0,0:85,73:65,75:38,29:NM_001130158.1(MYO1B) c.2766+97T>C,-:0.04,-:NOT_FOUND,- 2 192275899 . G . . NT END=192278773;NT GT ./. 2 192278907 . G . . NT END=192279242;NT GT ./. 2 192279327 rs2271767 T C 110 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.851;Gene=MYO1B/NM_001130158.1/1;CC=c.3091T>C;ProtCh=p.L1031=;VC=Silent;Gene=MYO1B/NM_012223.3/0;CC=c.2917T>C;ProtCh=p.L973=;VC=Silent;Gene=MYO1B/NM_001161819.1/0;CC=c.3091T>C;ProtCh=p.L1031=;VC=Silent;DM=MYO1B/Myosin_TH1;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:49:0:0:35,31:1132,981:110.00,0.00:55.07,0.00:54.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,8.7:0,0:0,0:46,69:93,72:33,36:NM_001130158.1(MYO1B) c.3091T>C (p.(=)),-:0.78,-:0.766262,- 2 192279396 . G . . NT END=192280840;NT GT ./. 2 192279545 rs10497718 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.3159+150G>A;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.2985+150G>A;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.3159+150G>A;VC=Intron;DM=MYO1B/Myosin_TH1;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:159:A,G:12:0:0:0:5,7:158,238:14.65,0.00:0.00,0.00:14.65,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:45.8,1.6:0,0:0,0:110,100:41,51:16,22:NM_001130158.1(MYO1B) c.3159+150G>A,-:0.04,-:NOT_FOUND,- 2 192280969 . G . . NT END=192288562;NT GT ./. 2 192281290 rs112282027 C G 6 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.3287+322C>G;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.3113+322C>G;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.3287+322C>G;VC=Intron;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,G:4:4:0:0:2,2:69,66:0.00,6.35:0.00,4.66:0.00,1.69:0.00,0.51:0.00,0.51:0.00,0.79:60,60:34.0,33.0:0,0:0,0:55,49:81,102:17,31:-,NM_001130158.1(MYO1B) c.3287+322C>G:-,0.11:-,NOT_FOUND 2 192281306 rs6731172 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=MYO1B/NM_001130158.1/1;CC=c.3287+338C>T;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.3113+338C>T;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.3287+338C>T;VC=Intron;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:4:0:0:2,2:66,69:0.00,6.65:0.00,4.91:0.00,1.74:0.00,0.51:0.00,0.51:0.00,0.79:60,60:32.0,34.5:0,0:0,0:83,71:67,65:49,17:-,NM_001130158.1(MYO1B) c.3287+338C>T:-,0.87:-,NOT_FOUND 2 192288497 rs7607560 G A 90 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;PC=0.014;Gene=MYO1B/NM_001130158.1/1;CC=c.3288-66G>A;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.3114-66G>A;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.3288-66G>A;VC=Intron;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:45:0:0:30,19:903,647:90.28,0.00:71.20,0.00:19.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.8,33.8:0,0:0,0:49,57:102,93:23,34:NM_001130158.1(MYO1B) c.3288-66G>A,-:0.05,-:NOT_FOUND,- 2 192288529 rs150243015 G A 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=30;Gene=MYO1B/NM_001130158.1/1;CC=c.3288-34G>A;VC=Intron;Gene=MYO1B/NM_012223.3/0;CC=c.3114-34G>A;VC=Intron;Gene=MYO1B/NM_001161819.1/0;CC=c.3288-34G>A;VC=Intron;DM=MYO1B/Myosin_TH1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:52:0:0:27,35:872,1160:81.65,0.00:56.55,0.00:25.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,43.4:0,0:0,0:37,61:113,86:23,26:NM_001130158.1(MYO1B) c.3288-34G>A,-:0.0027,-:0.003921,- 2 192288687 . C . . NT END=192543340;NT GT ./. 2 192440335 rs7595542 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,T:4:4:0:0:1,3:28,96:0.00,10.05:0.00,10.05:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:25.0,58.7:0,0:0,0:2,31:149,119:0,13:-,chr2 g.192440334C>T (intergenic):-,0.21:-,NOT_FOUND 2 192440448 rs58864954 G GCACA 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=6;NP=68;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,GCACA:6:7:4:0:3,3:81,128:0.00,9.01:0.00,5.67:0.00,3.34:0.00,0.69:0.00,0.69:0.00,0.83:60,60:30.3,27.7:0,1:0,0:115,36:36,110:8,12:-,chr2 g.192440448_192440449insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 192543432 . G . . NT END=192543715;NT GT ./. 2 192543855 . G . . NT END=192546671;NT GT ./. 2 192546744 . G . . NT END=192548454;NT GT ./. 2 192548531 . G . . NT END=192548955;NT GT ./. 2 192548841 rs372983331 TA T 16 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=31;Gene=NABP1/NM_001254736.1/0;CC=c.139-100delA;VC=Intron;Gene=NABP1/NR_045622.1/0;VC=NonCoding;Gene=NABP1/NM_001031716.2/1;CC=c.379-100delA;VC=Intron;Gene=NABP1/NR_045623.1/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:TA,I,T:18:19:2:7:10,2,6:296,62,205:0.00,4.72,15.52:0.00,4.72,14.03:0.00,0.00,1.49:0.00,0.00,0.94:0.00,0.00,0.94:0.00,0.00,0.54:60,60,60:18.0,54.0,20.5:0,0,1:0,0,0:34,43,43:113,107,108:26,6,23:-,NM_001031716.2(NABP1) c.379-114delA:-,NOT_FOUND:-,NOT_FOUND 2 192549023 . G . . NT END=192550324;NT GT ./. 2 192550495 . C . . NT END=192700648;NT GT ./. 2 192700400 rs1128965 T C 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SDPR/NM_004657.5/1;CC=c.*249A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:7:7:0:0:4,3:140,70:13.85,0.00:13.85,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:44.5,8.0:0,0:0,0:33,30:117,120:20,9:NM_004657.5(SDPR) c.*249A>G,-:0.52,-:NOT_FOUND,- 2 192701393 rs10167187 A G 402 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SDPR/NM_004657.5/1;CC=c.534T>C;ProtCh=p.G178=;VC=Silent;DM=SDPR/PTRF_SDPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:109:60:0:0:109:3501:401.66:135.84:265.82:1.00:1.00:1.00:60:58.3:0:0:75:74:29:NM_004657.5(SDPR) c.534T>C (p.(=)),NM_004657.5(SDPR) c.534T>C (p.(=)):0.62,0.62:0.555598,0.555598 2 192701407 rs61735649 G C 116 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=0.973;Gene=SDPR/NM_004657.5/1;CC=c.520C>G;ProtCh=p.Q174E;VC=Missense;DM=SDPR/PTRF_SDPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:105:55:0:0:40,65:1276,2194:116.37,0.00:37.98,0.00:78.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.9,35.8:0,0:0,0:90,94:60,51:23,27:NM_004657.5(SDPR) c.520C>G (p.Gln174Glu),-:0.04,-:0.053134,- 2 192701444 . C . . NT END=192711168;NT GT ./. 2 192701453 rs114763644 C T 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.004;Gene=SDPR/NM_004657.5/1;CC=c.484-10G>A;VC=Intron;DM=SDPR/PTRF_SDPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:78:27:0:0:47,31:1424,993:0.00,91.38:0.00,22.02:0.00,69.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.7,99.7:0,0:0,0:109,111:36,31:24,26:-,NM_004657.5(SDPR) c.484-10G>A:-,0.02:-,0.032594 2 192701617 rs4461209 A C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SDPR/NM_004657.5/1;CC=c.484-174T>G;VC=Intron;DM=SDPR/PTRF_SDPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:276:31.42:0.00:31.42:1.00:0.00:1.00:60:34.5:0:0:79:71:31:NM_004657.5(SDPR) c.484-174T>G,NM_004657.5(SDPR) c.484-174T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 192711162 rs4471838 A C 379 nt VT=SNV;PN=G;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=NA;PC=0.998;Gene=SDPR/NM_004657.5/1;CC=c.483+7T>G;VC=Intron;DM=SDPR/PTRF_SDPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:99:93:0:0:98,1:3324,9:378.64,0.08:298.15,0.08:80.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,34.0:0,0:0,0:54,54:91,97:31,0:NM_004657.5(SDPR) c.483+7T>G,NM_004657.5(SDPR) c.483+7T>G:0.92,0.92:0.898585,0.898585 2 192711652 . G . . NT END=192770663;NT GT ./. 2 192746182 rs12693617 G A 199 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:147:A,G:56:41:0:0:55,1:1743,10:198.78,0.00:128.38,0.00:70.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,0.0:0,0:0,0:75,11:76,140:46,0:chr2 g.192746181G>A (intergenic),chr2 g.192746181G>A (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 192746735 rs4416162 T C 445 nt VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:118:84:0:0:118:3891:445.00:266.04:178.96:1.00:1.00:1.00:60:38.8:0:0:88:62:38:chr2 g.192746734T>C (intergenic),chr2 g.192746734T>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 192770678 . C . . NT END=192813771;NT GT ./. 2 192813550 rs4241285 G A 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:325:37.27:37.27:0.00:1.00:1.00:0.00:60:41.3:0:0:50:100:12:chr2 g.192813549G>A (intergenic),chr2 g.192813549G>A (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 2 192813662 rs59244181 TAAAC T 38 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=759;PC=0.987;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TAAAC,T:12:12:0:11:1,11:27,347:0.00,38.45:0.00,38.45:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:33.0,12.5:0,0:0,0:148,40:2,110:0,22:chr2 g.192813663_192813666delAAAC (intergenic),chr2 g.192813663_192813666delAAAC (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 2 192813742 rs80222758 C CT 67 idl,rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=273;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:43:38:25:0:20,23:610,756:0.00,67.25:0.00,50.95:0.00,16.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.2,13.2:0,2:0,0:43,39:99,111:27,16:-,chr2 g.192813742_192813743insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 192814629 rs7586642 G A 231 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.996;Gene=TMEFF2/NM_001305134.1/0;CC=c.*549C>T;VC=3UTR;Gene=TMEFF2/NM_016192.3/1;CC=c.*408C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:A,G:63:38:0:0:62,1:2040,29:231.30,0.00:116.25,0.00:115.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,232.0:0,0:0,0:87,92:63,58:38,0:chr2 g.192814628G>A (intergenic),chr2 g.192814628G>A (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 2 192815191 . C . . NT END=192818404;NT GT ./. 2 192815312 rs10194593 G C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.003;Gene=TMEFF2/NM_001305134.1/0;CC=c.1029-122C>G;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.1029-179C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:19:0:0:0:8,11:250,324:23.20,0.00:0.00,0.00:23.20,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:88.9,24.6:0,0:0,0:95,85:55,65:27,27:NM_016192.2(TMEFF2) c.1029-179C>G,-:0.21,-:NOT_FOUND,- 2 192815323 rs10170778 A G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.1029-133T>C;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.1029-190T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:10,8:305,241:0.00,22.53:0.00,0.00:0.00,22.53:0.00,0.99:0.00,0.00:0.00,0.99:60,60:25.3,88.9:0,0:0,0:75,106:75,44:33,27:-,NM_016192.2(TMEFF2) c.1029-190T>C:-,0.21:-,NOT_FOUND 2 192815349 rs67677695 AGAAGTT A 16 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=103;Gene=TMEFF2/NM_001305134.1/0;CC=c.1029-165_1029-160delAACTTC;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.1029-222_1029-217delAACTTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:AGAAGTT,A:18:0:0:6:12,6:389,180:0.00,15.89:0.00,0.00:0.00,15.89:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.7,88.0:0,0:0,0:115,84:35,66:23,24:-,NM_016192.2(TMEFF2) c.1029-222_1029-217delAACTTC:-,0.21:-,NOT_FOUND 2 192818166 rs7600878 C T 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.1028+239G>A;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.1028+239G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:8:8:0:0:2,6:71,168:0.00,17.66:0.00,17.66:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,32.8:0,0:0,0:85,50:66,101:16,18:-,NM_016192.2(TMEFF2) c.1028+239G>A:-,0.22:-,NOT_FOUND 2 192818564 . C . . NT END=192820980;NT GT ./. 2 192818646 rs6753104 C T 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.870-83G>A;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.870-83G>A;VC=Intron;DM=TMEFF2/hEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:0:0:0:16,11:454,376:0.00,34.94:0.00,0.00:0.00,34.94:0.00,1.00:0.00,0.00:0.00,1.00:60,60:20.8,64.7:0,0:0,0:101,61:47,86:24,35:-,NM_016192.2(TMEFF2) c.870-83G>A:-,0.22:-,NOT_FOUND 2 192818838 rs6714160 T C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.011;Gene=TMEFF2/NM_001305134.1/0;CC=c.870-275A>G;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.870-275A>G;VC=Intron;DM=TMEFF2/hEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:10:0:0:0:4,6:136,198:12.59,0.00:0.00,0.00:12.59,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:75.5,0.0:0,0:0,0:105,122:46,27:22,12:NM_016192.2(TMEFF2) c.870-275A>G,-:0.22,-:NOT_FOUND,- 2 192820810 rs11270301 G GTGTGTGAATGCT 15 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;PC=0.049;Gene=TMEFF2/NM_001305134.1/0;CC=c.869+170_869+171insAGCATTCACACA;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.869+170_869+171insAGCATTCACACA;VC=Intron;DM=TMEFF2/hEGF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:G,GTGTGTGAATGCT:11:11:5:0:6,5:162,163:0.00,15.41:0.00,15.41:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,70:0.0,5.8:0,0:0,0:70,72:80,79:35,19:-,NM_016192.2(TMEFF2) c.869+170_869+171insAGCATTCACACA:-,NOT_FOUND:-,NOT_FOUND 2 192820898 rs7606017 T G 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.869+83A>C;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.869+83A>C;VC=Intron;DM=TMEFF2/hEGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:32:0:0:15,21:420,714:38.45,0.00:29.13,0.00:9.32,0.00:1.00,0.00:1.00,0.00:0.98,0.00:70,60:39.9,15.2:0,0:0,0:55,38:96,113:36,12:NM_016192.2(TMEFF2) c.869+83A>C,-:0.82,-:NOT_FOUND,- 2 192821105 . C . . NT END=192862987;NT GT ./. 2 192863048 . C . . NT END=192863785;NT GT ./. 2 192863935 . C . . NT END=192922404;NT GT ./. 2 192913087 rs5837276 A C,AACAC 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=206;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:32:C,AACAC:3:5:4:0:1,2:36,133:3.38,6.96:1.69,3.53:1.69,3.43:0.00,0.46:0.00,0.46:0.00,0.80:57,60:108.0,0.0:1,2:0,0:79,40:40,93:0,17:NM_016192.2(TMEFF2) c.536+9318T>G,NM_016192.2(TMEFF2) c.536+9317_536+9318insGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 192922256 rs3738883 T G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.046;Gene=TMEFF2/NM_001305134.1/0;CC=c.536+149A>C;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.536+149A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:G,T:8:8:0:0:5,3:172,99:17.29,0.00:17.29,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:34.4,38.3:0,0:0,0:25,49:125,102:9,16:NM_016192.2(TMEFF2) c.536+149A>C,-:0.44,-:NOT_FOUND,- 2 192922502 . C . . NT END=193044393;NT GT ./. 2 193044421 . C . . NT END=193049079;NT GT ./. 2 193048895 rs3738882 C G 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.412+185G>C;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.412+185G>C;VC=Intron;Gene=TMEFF2/NM_001305145.1/0;CC=c.412+185G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:20:20:0:0:7,12,1:212,383,9:0.00,38.58,0.14:0.00,38.58,0.14:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:4.7,39.0,27.0:0,0,0:0,0,0:22,15,122:129,136,29:12,13,0:-,NM_016192.2(TMEFF2) c.412+185G>C:-,0.64:-,NOT_FOUND 2 193049210 . C . . NT END=193056605;NT GT ./. 2 193049353 rs75540210 G A 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.283-144C>T;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.283-144C>T;VC=Intron;Gene=TMEFF2/NM_001305145.1/0;CC=c.283-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:25:0:0:0:11,1,13:342,5,407:32.24,-0.14,0.00:0.00,0.00,0.00:32.24,-0.14,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.9,156.0,9.8:0,0,0:0,0,0:95,88,71:56,63,80:17,0,15:NM_016192.2(TMEFF2) c.283-144C>T,-:0.01,-:NOT_FOUND,- 2 193056716 . C . . NT END=193059078;NT GT ./. 2 193056737 rs3768702 C A 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.173-22G>T;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.173-22G>T;VC=Intron;Gene=TMEFF2/NM_001305145.1/0;CC=c.173-22G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:11:0:0:18,9:552,293:56.32,0.00:18.71,0.00:37.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.6,4.3:0,0:0,0:128,83:22,68:14,29:NM_016192.2(TMEFF2) c.173-22G>T,-:0.28,-:0.237044,- 2 193058913 rs75724441 C T 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=TMEFF2/NM_001305134.1/0;CC=c.172+166G>A;VC=Intron;Gene=TMEFF2/NM_016192.3/1;CC=c.172+166G>A;VC=Intron;Gene=TMEFF2/NM_001305145.1/0;CC=c.172+166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:12,10:330,302:0.00,28.39:0.00,28.39:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:37.4,42.3:0,0:0,0:64,27:86,124:44,22:-,NM_016192.2(TMEFF2) c.172+166G>A:-,0.04:-,NOT_FOUND 2 193059251 . G . . NT END=196522143;NT GT ./. 2 193081878 rs2356968 G A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:120:13.91:10.23:3.68:1.00:1.00:1.00:60:35.2:0:0:94:49:27:chr2 g.193081877G>A (intergenic),chr2 g.193081877G>A (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 2 193852548 rs59620051 ATGTG A 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=27;PC=0.007;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:ATGTG,A:5:4:0:4:1,4:33,129:0.00,13.72:0.00,8.90:0.00,4.82:0.00,0.96:0.00,1.00:0.00,0.99:60,60:0.0,13.8:0,0:0,0:108,39:37,111:0,9:-,chr2 g.193852549_193852552delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 194141586 rs11675750 A T 207 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:T:57:39:0:0:57:1796:206.66:100.22:106.45:1.00:1.00:1.00:60:36.9:0:0:69:82:30:chr2 g.194141585A>T (intergenic),chr2 g.194141585A>T (intergenic):0.12,0.12:NOT_FOUND,NOT_FOUND 2 194539567 rs2045860 C T 15 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:131:15.01:13.07:1.94:1.00:1.00:1.00:60:35.5:0:0:79:71:14:chr2 g.194539566C>T (intergenic),chr2 g.194539566C>T (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 2 194667290 rs10626177 C CTGTGTGTG 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=11;NP=44;PC=0.002;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:CTGTGTGTG:2:1:4:0:2:127:6.65:1.79:4.86:0.51:0.67:0.51:60:9.0:2:0:50:101:27:chr2 g.194667290_194667291insTGTGTGTG (intergenic),chr2 g.194667290_194667291insTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 194778564 rs55642881 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:164:18.78:9.19:9.59:1.00:1.00:1.00:60:42.6:0:0:76:46:8:chr2 g.194778563C>T (intergenic),chr2 g.194778563C>T (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 195006030 rs1356521 T C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=32;PC=0.106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:168:19.18:13.17:6.02:1.00:1.00:1.00:60:60.2:2:0:60:80:30:chr2 g.195006029T>C (intergenic),chr2 g.195006029T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 195052314 rs9808251 T C 117 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:10:0:0:33:1014:117.03:23.51:93.51:1.00:1.00:1.00:60:49.5:0:0:109:42:20:chr2 g.195052313T>C (intergenic),chr2 g.195052313T>C (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 2 195052367 rs9808060 C A 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:3:0:0:17:534:61.51:9.49:52.01:1.00:1.00:1.00:60:63.1:0:0:89:61:37:chr2 g.195052366C>A (intergenic),chr2 g.195052366C>A (intergenic):0.96,0.96:NOT_FOUND,NOT_FOUND 2 195053076 rs4850525 C A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:48.8:0:0:126:22:15:chr2 g.195053075C>A (intergenic),chr2 g.195053075C>A (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 2 195122461 . AACACACACAC A 17 idl,nt VT=DEL;SST=Single;DP=21;PC=0.302;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:AACACACACAC,A:15:16:0:13:9,6:249,327:0.00,16.99:0.00,9.77:0.00,7.22:0.00,0.93:0.00,0.99:0.00,0.95:60,60:13.8,50.3:0,6:0,0:101,56:41,94:8,14:-,chr2 g.195122462_195122471delACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 195318996 rs66512614 CCACACACA C 19 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=371;PC=0.003;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CCACACACA,C:7:5:0:6:1,6:35,169:0.00,18.51:0.00,10.86:0.00,7.65:0.00,1.00:0.00,1.00:0.00,1.00:3,60:32.0,5.7:0,0:0,0:5,32:38,105:0,23:-,chr2 g.195318997_195319004delCACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 195330406 rs55981202 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=8;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,G:4:3:0:0:1,3:9,105:0.00,11.01:0.00,5.78:0.00,5.23:0.00,0.85:0.00,0.99:0.00,0.85:60,60:180.0,55.3:0,0:0,0:125,51:5,47:0,4:-,chr2 g.195330405A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 195330408 rs73982786 G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=421;NP=68;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,G:4:3:0:0:2,2:68,46:6.57,0.00:3.43,0.00:3.14,0.00:0.51,0.00:0.89,0.00:0.51,0.00:60,60:68.5,106.5:0,0:0,0:67,90:73,6:18,37:chr2 g.195330407G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 195764344 rs200291561 G GGTGGGT 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=163;NP=26;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GGTGGGT:4:2:4:0:4:120:13.91:3.83:10.08:1.00:1.00:1.00:60:59.5:0:0:67:69:5:chr2 g.195764344_195764345insGTGGGT (intergenic),chr2 g.195764344_195764345insGTGGGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 195815693 rs67943683 GCACACACACA G 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=230;PC=0.021;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G:2:3:0:4:2:100:7.15:5.36:1.79:0.51:0.89:0.79:60:41.0:2:0:39:104:8:chr2 g.195815694_195815703delCACACACACA (intergenic),chr2 g.195815694_195815703delCACACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 195884251 rs12478266 T C 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:171:19.48:15.66:3.83:1.00:1.00:1.00:60:53.4:0:0:32:111:15:chr2 g.195884250T>C (intergenic),chr2 g.195884250T>C (intergenic):0.5,0.5:NOT_FOUND,NOT_FOUND 2 196054230 rs62201568 C CTGTCTCTGTGTG 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=41;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTGTCTCTGTGTG:3:2:4:0:3:128:10.46:5.33:5.13:0.85:0.95:0.99:60:10.3:1:0:91:58:6:chr2 g.196054230_196054231insTGTCTCTGTGTG (intergenic),chr2 g.196054230_196054231insTGTCTCTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 196179430 . C T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;NP=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:12:12:0:0:8,4:284,109:0.00,9.49:0.00,9.49:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:60.5,112.2:3,0:0,0:103,63:46,70:23,25:-,chr2 g.196179429C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 196179431 rs2888986 A G 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:395:45.66:43.62:2.04:1.00:1.00:1.00:60:79.7:3:0:86:48:26:chr2 g.196179430A>G (intergenic),chr2 g.196179430A>G (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 2 196179438 rs145036506 T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=8;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:G,T:12:12:0:0:3,9:96,185:8.11,0.00:8.18,0.00:-0.06,0.00:0.59,0.00:0.59,0.00:0.50,0.00:60,70:116.7,68.7:0,2:0,0:134,69:17,41:0,47:chr2 g.196179437T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 196216503 rs71012485 TCACACACACA T 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=53;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T:2:4:0:4:2:134:7.15:3.63:3.53:0.51:0.51:0.79:60:0.0:2:0:49:78:22:chr2 g.196216504_196216513delCACACACACA (intergenic),chr2 g.196216504_196216513delCACACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 196488625 rs67959883 CCACA C 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=93;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CCACA,C:3:4:0:4:1,2:35,111:0.00,6.54:0.00,-0.74:0.00,7.28:0.00,0.46:0.00,0.87:0.00,0.46:15,60:0.0,0.0:0,2:0,0:69,85:36,59:0,2:-,chr2 g.196488626_196488629delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 196522286 rs6724286 A G 779 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=213;DB;DBA=NA;PAF=NA;NP=640;Gene=SLC39A10/NM_001127257.1/1;CC=c.-12+552A>G;VC=Intron;Gene=SLC39A10/NM_020342.2/0;CC=c.-12+281A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:213:130:0:0:1,212:10,6786:0.05,778.78:0.00,301.91:0.05,476.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:72.0,40.1:0,0:0,0:48,76:102,70:0,28:NM_001127257.1(SLC39A10) c.-12+552A>G,NM_001127257.1(SLC39A10) c.-12+552A>G:1,1:NOT_FOUND,NOT_FOUND 2 196522334 . G . . NT END=196539280;NT GT ./. 2 196539356 . G . . NT END=196544755;NT GT ./. 2 196545775 . G . . NT END=196548422;NT GT ./. 2 196546026 rs6434794 A G 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=155;Gene=SLC39A10/NM_001127257.1/1;CC=c.1008+252A>G;VC=Intron;Gene=SLC39A10/NM_020342.2/0;CC=c.1008+252A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A,G:10:0:0:0:1,9:13,276:0.00,30.53:0.00,0.00:0.00,30.53:0.00,1.00:0.00,0.00:0.00,1.00:60,60:42.0,34.1:0,0:0,0:18,112:132,39:0,17:NM_001127257.1(SLC39A10) c.1008+252A>G,NM_001127257.1(SLC39A10) c.1008+252A>G:1,1:NOT_FOUND,NOT_FOUND 2 196548631 . G . . NT END=196571339;NT GT ./. 2 196571510 . G . . NT END=196573379;NT GT ./. 2 196573569 . G . . NT END=196578156;NT GT ./. 2 196578278 . G . . NT END=196581360;NT GT ./. 2 196578313 . CT C 16 idl,rn VT=DEL;SST=Single;DP=64;NP=88;PC=0.994;Gene=SLC39A10/NM_001127257.1/1;CC=c.1696+48delT;VC=Intron;Gene=SLC39A10/NM_020342.2/0;CC=c.1696+48delT;VC=Intron;DM=SLC39A10/Zip;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:CT,T,I,C:63:28:5:8:50,1,5,7:1624,12,164,247:0.00,-0.12,11.49,15.51:0.00,-0.09,4.88,3.32:0.00,-0.03,6.61,12.18:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.99:60,60,60,60:10.3,23.0,14.8,28.0:0,1,0,1:0,0,0,0:108,21,91,51:37,128,59,91:26,0,27,32:-,NM_001127257.1(SLC39A10) c.1696+37delT:-,NOT_FOUND:-,NOT_FOUND 2 196581295 rs3841858 T TGTCTAG 98 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=SLC39A10/NM_001127257.1/1;CC=c.1697-64_1697-63insCTAGGT;VC=Intron;Gene=SLC39A10/NM_020342.2/0;CC=c.1697-64_1697-63insCTAGGT;VC=Intron;DM=SLC39A10/Zip;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:G,T,TGTCTAG:34:31:29:0:1,4,29:32,138,900:2.09,0.00,98.49:2.09,0.00,84.46:0.00,0.00,14.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.0,0.0,9.2:0,0,0:0,0,0:0,140,41:150,3,108:0,0,18:-,NM_001127257.1(SLC39A10) c.1697-66_1697-65insGTCTAG:-,NOT_FOUND:-,NOT_FOUND 2 196581730 . G . . NT END=196582975;NT GT ./. 2 196582816 rs842736 T C 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1736;Gene=SLC39A10/NM_001127257.1/1;CC=c.2066-160T>C;VC=Intron;Gene=SLC39A10/NM_020342.2/0;CC=c.2066-160T>C;VC=Intron;DM=SLC39A10/Zip GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:308:35.57:35.57:0.00:1.00:1.00:0.00:60:30.8:0:0:59:91:44:NM_001127257.1(SLC39A10) c.2066-160T>C,NM_001127257.1(SLC39A10) c.2066-160T>C:1,1:NOT_FOUND,NOT_FOUND 2 196583057 . G . . NT END=196592882;NT GT ./. 2 196593074 . G . . NT END=196599606;NT GT ./. 2 196599766 . C . . NT END=196602644;NT GT ./. 2 196602448 rs3049430 C A,CTTTA 13 idl;end,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=102;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:55:A,CTTTA:6:6:4:0:2,4:58,117:5.80,12.90:5.80,12.90:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:56.0,12.0:0,0:0,0:0,21:144,128:0,11:NM_018897.2(DNAH7) c.*197G>T,NM_018897.2(DNAH7) c.*193_*196dupTAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 196602559 . CA C 9 rn VT=DEL;SST=Single;DP=33;NP=2;PC=0.051;Gene=DNAH7/NM_018897.2/1;CC=c.*85delT;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:CA,C:33:33:0:4:29,4:941,126:0.00,9.22:0.00,9.22:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:5.8,7.2:0,0:0,0:54,56:97,93:33,20:-,NM_018897.2(DNAH7) c.*77T[8]:-,NOT_FOUND:-,NOT_FOUND 2 196602582 rs75708451 A AAAT 134 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1439;Gene=DNAH7/NM_018897.2/1;CC=c.*60_*62dupATT;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A,T,AAAT:43:43:38:0:3,2,38:70,42,1202:0.00,2.54,133.52:0.00,2.54,129.80:0.00,0.00,3.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:40.0,21.0,5.1:0,0,0:0,0,0:147,0,54:4,150,97:2,0,31:NM_018897.2(DNAH7) c.*60_*62dupATT,NM_018897.2(DNAH7) c.*60_*62dupATT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 196602852 . C . . NT END=196605489;NT GT ./. 2 196605368 rs71015728 TACATATACACAC T 13 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;Gene=DNAH7/NM_018897.2/1;CC=c.11868+110_11868+121delGTGTGTATATGT;VC=Intron;DM=DNAH7/Dynein_heavy;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:5:0:5:4:146:12.82:12.82:0.00:0.96:0.96:0.00:70:24.8:1:0:46:100:45:NM_018897.2(DNAH7) c.11868+110_11868+121delGTGTGTATATGT,NM_018897.2(DNAH7) c.11868+110_11868+121delGTGTGTATATGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 196605594 . C . . NT END=196619060;NT GT ./. 2 196619239 . C . . NT END=196620856;NT GT ./. 2 196619340 rs1866451 T G 150 nt VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.004;Gene=DNAH7/NM_018897.2/1;CC=c.11587-102A>C;VC=Intron;DM=DNAH7/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:G:40:6:0:0:40:1310:149.99:12.13:137.86:1.00:1.00:1.00:60:56.1:0:0:91:59:29:NM_018897.2(DNAH7) c.11587-102A>C,NM_018897.2(DNAH7) c.11587-102A>C:0.75,0.75:NOT_FOUND,NOT_FOUND 2 196621010 . C . . NT END=196636383;NT GT ./. 2 196636615 . C . . NT END=196640569;NT GT ./. 2 196636662 rs1145939 C G 170 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.11203-48G>C;VC=Intron;DM=DNAH7/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A,G:45:16:0:0:1,44:8,1491:0.12,169.65:0.00,41.91:0.12,127.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:76.0,37.5:0,0:0,0:123,113:28,38:0,24:NM_018897.2(DNAH7) c.11203-48G>C,NM_018897.2(DNAH7) c.11203-48G>C:0.72,0.72:0.747168,0.747168 2 196640372 rs66697816 GA G 24 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=97;Gene=DNAH7/NM_018897.2/1;CC=c.11202+197delT;VC=Intron;DM=DNAH7/Dynein_heavy;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:GA,G:8:10:0:9:1,7:36,288:0.00,24.13:0.00,24.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,25.4:0,2:0,0:103,42:48,109:0,26:-,NM_018897.2(DNAH7) c.11202+197delT:-,NOT_FOUND:-,NOT_FOUND 2 196640708 . C . . NT END=196642523;NT GT ./. 2 196641003 rs1145937 C A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=192;Gene=DNAH7/NM_018897.2/1;CC=c.11065-296G>T;VC=Intron;DM=DNAH7/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:222:25.54:0.00:25.54:1.00:0.00:1.00:60:45.3:0:0:118:33:8:NM_018897.2(DNAH7) c.11065-296G>T,NM_018897.2(DNAH7) c.11065-296G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 196642710 . C . . NT END=196651733;NT GT ./. 2 196651896 . C . . NT END=196659061;NT GT ./. 2 196652071 . A C 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;NP=2;Gene=DNAH7/NM_018897.2/1;CC=c.10717-176T>G;VC=Intron;DM=DNAH7/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,C:11:0:0:0:8,3:259,90:0.00,7.63:0.00,0.00:0.00,7.63:0.00,0.60:0.00,0.00:0.00,0.60:60,60:4.0,41.0:0,0:0,0:122,48:29,103:23,2:-,NM_018897.2(DNAH7) c.10717-176T>G:-,NOT_FOUND:-,NOT_FOUND 2 196659263 . C . . NT END=196661299;NT GT ./. 2 196661462 . C . . NT END=196664019;NT GT ./. 2 196663997 rs7567285 T C 145 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.10353+23A>G;VC=Intron;DM=DNAH7/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C,G:42:39:0:0:41,1:1260,13:144.93,0.37:111.57,0.37:33.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,35.0:0,0:0,0:32,60:117,91:22,0:NM_018897.2(DNAH7) c.10353+23A>G,NM_018897.2(DNAH7) c.10353+23A>G:0.49,0.49:0.576819,0.576819 2 196664197 . C . . NT END=196671463;NT GT ./. 2 196671557 . C . . NT END=196673405;NT GT ./. 2 196673202 rs56278864 G A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.10083+204C>T;VC=Intron;DM=DNAH7/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:121:14.01:14.01:0.00:1.00:1.00:0.00:60:38.8:0:0:34:117:33:NM_018897.2(DNAH7) c.10083+204C>T,NM_018897.2(DNAH7) c.10083+204C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 2 196673533 rs13411834 A G 284 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=1.000;Gene=DNAH7/NM_018897.2/1;CC=c.9956T>C;ProtCh=p.L3319P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:41:0:0:76:2477:283.84:102.52:181.31:1.00:1.00:1.00:60:41.2:0:0:74:75:29:NM_018897.2(DNAH7) c.9956T>C (p.Leu3319Pro),NM_018897.2(DNAH7) c.9956T>C (p.Leu3319Pro):0.97,0.97:0.963252,0.963252 2 196673601 . C . . NT END=196674468;NT GT ./. 2 196674596 . C . . NT END=196681351;NT GT ./. 2 196681284 rs2280452 A T 64 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DNAH7/NM_018897.2/1;CC=c.9761+68T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:17:0:0:18:559:64.48:56.93:7.55:1.00:1.00:1.00:60:39.2:0:0:39:110:21:NM_018897.2(DNAH7) c.9761+68T>A,NM_018897.2(DNAH7) c.9761+68T>A:0.4,0.4:NOT_FOUND,NOT_FOUND 2 196681688 . C . . NT END=196682419;NT GT ./. 2 196682554 . C . . NT END=196688978;NT GT ./. 2 196682630 rs975417 C A 55 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.9292-77G>T;VC=Intron;DM=DNAH7/AAA_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:A,C:18:3:0:0:17,1:487,32:55.10,0.00:10.16,0.00:44.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.2,12.0:0,0:0,0:115,147:36,1:23,0:NM_018897.2(DNAH7) c.9292-77G>T,NM_018897.2(DNAH7) c.9292-77G>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 196689170 . C . . NT END=196698929;NT GT ./. 2 196699085 . C . . NT END=196709725;NT GT ./. 2 196709890 . C . . NT END=196718066;NT GT ./. 2 196718253 . C . . NT END=196720534;NT GT ./. 2 196720716 . C . . NT END=196722100;NT GT ./. 2 196722448 . C . . NT END=196723197;NT GT ./. 2 196723529 . C . . NT END=196726440;NT GT ./. 2 196726671 . C . . NT END=196728872;NT GT ./. 2 196729746 . C . . NT END=196736973;NT GT ./. 2 196737194 . c . . NT END=196738291;NT GT ./. 2 196738419 . C . . NT END=196740398;NT GT ./. 2 196740568 . C . . NT END=196741267;NT GT ./. 2 196741424 . C . . NT END=196746518;NT GT ./. 2 196746717 . C . . NT END=196749308;NT GT ./. 2 196749534 . C . . NT END=196750864;NT GT ./. 2 196750997 . C . . NT END=196752981;NT GT ./. 2 196753159 . C . . NT END=196753522;NT GT ./. 2 196753706 . C . . NT END=196756378;NT GT ./. 2 196756529 . C . . NT END=196759699;NT GT ./. 2 196756535 rs539218059 GA G 127 rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1959;PC=0.001;Gene=DNAH7/NM_018897.2/1;CC=c.4897-8delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:51:23:0:41:11,40:331,1229:0.00,127.11:0.00,46.06:0.00,81.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.9,14.2:0,1:0,0:116,76:35,72:24,30:-,NM_018897.2(DNAH7) c.4897-8delT:-,NOT_FOUND:-,NOT_FOUND 2 196759949 . C . . NT END=196762390;NT GT ./. 2 196762490 . C . . NT END=196765005;NT GT ./. 2 196762491 . T TA 8 idl,rn VT=INS;SST=Single;DP=21;PC=1.000;Gene=DNAH7/NM_018897.2/1;CC=c.4549-3dupT;VC=Intron;DM=DNAH7/AAA_6;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:T,TA,D:20:13:4:2:15,3,2:475,131,51:0.00,7.60,3.38:0.00,4.06,0.99:0.00,3.53,2.39:0.00,0.49,0.00:0.00,0.79,0.00:0.00,0.81,0.00:60,60,60:28.3,21.3,49.5:0,1,0:0,0,0:108,80,113:34,70,35:25,12,10:-,NM_018897.2(DNAH7) c.4549-3_4549-2insT:-,NOT_FOUND:-,NOT_FOUND 2 196765219 . C . . NT END=196771382;NT GT ./. 2 196771511 . C . . NT END=196771630;NT GT ./. 2 196771734 . C . . NT END=196774750;NT GT ./. 2 196774920 . C . . NT END=196786811;NT GT ./. 2 196786922 . C . . NT END=196788318;NT GT ./. 2 196788532 . C . . NT END=196791149;NT GT ./. 2 196791276 rs1489802 T G 289 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.913;Gene=DNAH7/NM_018897.2/1;CC=c.3486A>C;ProtCh=p.A1162=;VC=Silent;DM=DNAH7/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:46:0:0:78:2521:289.23:127.25:161.98:1.00:1.00:1.00:60:34.7:0:0:82:64:33:NM_018897.2(DNAH7) c.3486A>C (p.(=)),NM_018897.2(DNAH7) c.3486A>C (p.(=)):0.5,0.5:0.487528,0.487528 2 196791291 . C . . NT END=196799314;NT GT ./. 2 196799514 . C . . NT END=196801322;NT GT ./. 2 196801517 . C . . NT END=196821984;NT GT ./. 2 196822172 . C . . NT END=196824983;NT GT ./. 2 196825670 . C . . NT END=196834671;NT GT ./. 2 196834813 rs201059016 C T 111 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=7;PC=0.177;Gene=DNAH7/NM_018897.2/1;CC=c.2064G>A;ProtCh=p.R688=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:76:33:0:0:1,38,37:11,1230,1160:-0.06,0.00,111.00:-0.06,0.00,51.70:-0.00,0.00,59.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.0,3.0,41.0:0,0,0:0,0,0:20,100,86:130,45,65:0,37,36:-,NM_018897.2(DNAH7) c.2064G>A (p.(=)):-,NOT_FOUND:-,0.000426 2 196834819 . C . . NT END=196836965;NT GT ./. 2 196837191 . C . . NT END=196849355;NT GT ./. 2 196839479 . TAC T 10 rn VT=DEL;SST=Single;DP=6;NP=4;PC=0.007;Gene=DNAH7/NM_018897.2/1;CC=c.1834-2291_1834-2290delGT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TAC,T:5:6:0:4:2,3:67,131:0.00,9.73:0.00,6.25:0.00,3.48:0.00,0.73:0.00,0.73:0.00,0.79:60,60:29.5,15.0:0,1:0,0:81,46:69,74:28,16:-,NM_018897.2(DNAH7) c.1834-2291_1834-2290delGT:-,NOT_FOUND:-,NOT_FOUND 2 196849435 . C . . NT END=196851789;NT GT ./. 2 196851911 rs10931715 G A 153 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=1.000;Gene=DNAH7/NM_018897.2/1;CC=c.1633C>T;ProtCh=p.R545C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:A:43:17:0:0:43:1327:152.98:49.21:103.77:1.00:1.00:1.00:60:37.7:0:0:97:50:34:NM_018897.2(DNAH7) c.1633C>T (p.Arg545Cys),NM_018897.2(DNAH7) c.1633C>T (p.Arg545Cys):0.55,0.55:0.52563,0.52563 2 196851918 . C . . NT END=196852680;NT GT ./. 2 196852954 . C . . NT END=196865427;NT GT ./. 2 196855499 rs71015737 TTG T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=110;PC=0.790;Gene=DNAH7/NM_018897.2/1;CC=c.1354-2548_1354-2547delCA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TTG,T:5:4:0:3:2,3:66,98:0.00,9.77:0.00,4.88:0.00,4.88:0.00,0.78:0.00,0.97:0.00,0.97:60,60:17.5,0.0:0,0:0,0:121,41:25,109:17,2:-,NM_018897.2(DNAH7) c.1354-2548_1354-2547delCA:-,NOT_FOUND:-,NOT_FOUND 2 196865608 . C . . NT END=196866398;NT GT ./. 2 196866420 rs6434811 C T 255 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.977;Gene=DNAH7/NM_018897.2/1;CC=c.1152G>A;ProtCh=p.T384=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:185:G,T:68:59:0:0:1,67:8,2239:0.09,255.36:0.09,179.08:0.00,76.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,38.7:0,0:0,0:51,56:99,90:0,26:NM_018897.2(DNAH7) c.1152G>A (p.(=)),NM_018897.2(DNAH7) c.1152G>A (p.(=)):0.67,0.67:0.730275,0.730275 2 196866583 . C . . NT END=196877510;NT GT ./. 2 196877631 . C . . NT END=196883893;NT GT ./. 2 196883691 rs1519607 A C 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.806;Gene=DNAH7/NM_018897.2/1;CC=c.869+203T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:400:46.17:46.17:0.00:1.00:1.00:0.00:60:36.6:0:0:83:67:44:NM_018897.2(DNAH7) c.869+203T>G,NM_018897.2(DNAH7) c.869+203T>G:0.5,0.5:NOT_FOUND,NOT_FOUND 2 196884020 . C . . NT END=196889152;NT GT ./. 2 196889229 . C . . NT END=196891483;NT GT ./. 2 196891449 rs1072600 T C 92 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.667+35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:22:0:0:24:801:91.52:73.48:18.05:1.00:1.00:1.00:60:42.3:0:0:53:98:26:NM_018897.2(DNAH7) c.667+35A>G,NM_018897.2(DNAH7) c.667+35A>G:0.5,0.5:0.490026,0.490026 2 196891665 . C . . NT END=196892683;NT GT ./. 2 196892772 . C . . NT END=196912075;NT GT ./. 2 196912067 rs4850381 A G 191 nt VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.398+9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A,G,T:53:48:0:0:1,50,2:7,1694,39:0.00,191.03,2.21:0.00,138.50,1.27:0.00,52.53,0.93:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:6,60,60:143.0,37.1,24.0:2,0,0:0,0,0:83,68,97:28,78,53:0,29,52:NM_018897.2(DNAH7) c.398+9T>C,NM_018897.2(DNAH7) c.398+9T>C:0.78,0.78:0.708474,0.708474 2 196912224 . C . . NT END=196913019;NT GT ./. 2 196912354 rs34679412 A AT 40 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1;NP=404;Gene=DNAH7/NM_018897.2/1;CC=c.251-132dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:23:0:14:0:9,1,13:279,10,426:0.00,0.15,39.89:0.00,0.00,0.00:0.00,0.15,39.89:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:21.3,102.0,12.7:1,0,1:0,0,0:134,45,94:13,105,55:11,0,29:-,NM_018897.2(DNAH7) c.251-132_251-131insA:-,NOT_FOUND:-,NOT_FOUND 2 196912465 rs13028941 A G 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DNAH7/NM_018897.2/1;CC=c.251-242T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:95:11.37:0.00:11.37:1.00:0.00:1.00:60:31.0:0:0:103:46:30:NM_018897.2(DNAH7) c.251-242T>C,NM_018897.2(DNAH7) c.251-242T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 2 196913129 . C . . NT END=196915910;NT GT ./. 2 196915974 . C . . NT END=196922777;NT GT ./. 2 196915991 rs10174065 A G 100 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.79-18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:17:0:0:28:871:100.38:45.52:54.87:1.00:1.00:1.00:60:32.6:0:0:90:55:26:NM_018897.2(DNAH7) c.79-18T>C,NM_018897.2(DNAH7) c.79-18T>C:0.78,0.78:0.689415,0.689415 2 196922841 . C . . NT END=196933420;NT GT ./. 2 196933188 rs13028754 T C 67 nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=DNAH7/NM_018897.2/1;CC=c.15+233A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:19:0:0:19:577:66.73:66.73:0.00:1.00:1.00:0.00:60:39.3:0:0:43:108:27:NM_018897.2(DNAH7) c.15+233A>G,NM_018897.2(DNAH7) c.15+233A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 196933436 . G . . NT END=197002170;NT GT ./. 2 196974003 . GGT G 9 rn VT=DEL;SST=Single;DP=6;NP=3;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:GGT,G:5:6:0:4:2,3:69,121:0.00,8.73:0.00,5.60:0.00,3.13:0.00,0.73:0.00,0.73:0.00,0.79:60,60:11.0,8.0:0,1:0,0:69,33:67,118:21,10:-,chr2 g.196974004_196974005delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 196983403 rs71009071 AGTGTGT A 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=133;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AGTGTGT,A:4:2:0:3:1,3:35,96:0.00,10.05:0.00,6.90:0.00,3.15:0.00,0.85:0.00,0.95:0.00,0.95:60,60:30.0,3.3:0,0:0,0:123,81:28,69:0,20:-,chr2 g.196983404_196983409delGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 197001994 . T A 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;NP=2;Gene=STK17B/NM_004226.3/1;CC=c.*177A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,T:12:12:0:0:7,5:229,163:22.70,0.00:22.70,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:36.0,0.0:0,0:0,0:33,26:117,125:6,11:NM_004226.3(STK17B) c.*177A>T,-:NOT_FOUND,-:NOT_FOUND,- 2 197002454 . C . . NT END=197004343;NT GT ./. 2 197002663 rs11676514 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=STK17B/NM_004226.3/1;CC=c.837-210G>A;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:34.3:0:0:102:48:29:NM_004226.3(STK17B) c.837-210G>A,NM_004226.3(STK17B) c.837-210G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 2 197004185 rs11888166 G A 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.096;Gene=STK17B/NM_004226.3/1;CC=c.836+159C>T;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:9:0:0:9:266:30.80:30.80:0.00:1.00:1.00:0.00:60:41.9:0:0:47:104:36:NM_004226.3(STK17B) c.836+159C>T,NM_004226.3(STK17B) c.836+159C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 2 197004439 rs1054537 A G 235 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=0.991;Gene=STK17B/NM_004226.3/1;CC=c.741T>C;ProtCh=p.I247=;VC=Silent;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G:60:43:0:0:60:2060:234.61:123.45:111.16:1.00:1.00:1.00:60:40.1:0:0:77:66:36:NM_004226.3(STK17B) c.741T>C (p.(=)),NM_004226.3(STK17B) c.741T>C (p.(=)):0.72,0.72:0.609248,0.609248 2 197004524 . C . . NT END=197005972;NT GT ./. 2 197006022 . C . . NT END=197008283;NT GT ./. 2 197008112 rs3052608 T TCAATA 21 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=STK17B/NM_004226.3/1;CC=c.607+171_607+172insTATTG;VC=Intron;DM=STK17B/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T,TCAATA:7:7:6:0:1,6:8,194:0.00,21.15:0.00,21.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:113.0,1.5:1,0:0,0:39,84:112,66:0,18:NM_004226.3(STK17B) c.607+171_607+172insTATTG,NM_004226.3(STK17B) c.607+171_607+172insTATTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 197008411 . C . . NT END=197010634;NT GT ./. 2 197008529 rs1568368 C T 84 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=STK17B/NM_004226.3/1;CC=c.481-119G>A;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:3:0:0:23:735:84.47:5.47:79.00:1.00:1.00:1.00:60:37.5:0:0:79:72:25:NM_004226.3(STK17B) c.481-119G>A,NM_004226.3(STK17B) c.481-119G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 197010421 rs148596098 C T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=4;PC=0.060;Gene=STK17B/NM_004226.3/1;CC=c.480+214G>A;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:7:0:0:4,3:142,96:0.00,8.95:0.00,8.95:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:17.5,65.0:0,0:0,0:35,40:115,111:13,15:-,NM_004226.3(STK17B) c.480+214G>A:-,0.0027:-,NOT_FOUND 2 197010527 rs2271887 A C 65 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=STK17B/NM_004226.3/1;CC=c.480+108T>G;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:572:65.31:63.32:1.99:1.00:1.00:1.00:60:41.5:0:0:63:88:37:NM_004226.3(STK17B) c.480+108T>G,NM_004226.3(STK17B) c.480+108T>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 197010780 . C . . NT END=197021162;NT GT ./. 2 197010823 rs2271888 C T 175 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=STK17B/NM_004226.3/1;CC=c.336-44G>A;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:25:0:0:47:1523:174.64:58.82:115.82:1.00:1.00:1.00:60:39.8:0:0:111:39:18:NM_004226.3(STK17B) c.336-44G>A,NM_004226.3(STK17B) c.336-44G>A:0.49,0.49:0.450994,0.450994 2 197010962 rs7599244 G A 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=STK17B/NM_004226.3/1;CC=c.336-183C>T;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:0:0:0:14:474:54.08:0.00:54.08:1.00:0.00:1.00:60:48.7:0:0:83:67:40:NM_004226.3(STK17B) c.336-183C>T,NM_004226.3(STK17B) c.336-183C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 2 197021086 rs6712631 C T 113 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=STK17B/NM_004226.3/1;CC=c.335+77G>A;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:29:0:0:29:988:112.63:110.64:1.99:1.00:1.00:1.00:60:66.5:0:0:41:110:27:NM_004226.3(STK17B) c.335+77G>A,NM_004226.3(STK17B) c.335+77G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 2 197021141 rs6712829 G A 172 nt VT=SNV;PN=G;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=STK17B/NM_004226.3/1;CC=c.335+22C>T;VC=Intron;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:A:46:45:0:0:46:1499:171.81:141.34:30.47:1.00:1.00:1.00:60:60.6:0:0:56:93:35:NM_004226.3(STK17B) c.335+22C>T,NM_004226.3(STK17B) c.335+22C>T:0.49,0.49:0.451233,0.451233 2 197021276 rs10931726 T C 303 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=0.998;Gene=STK17B/NM_004226.3/1;CC=c.222A>G;ProtCh=p.R74=;VC=Silent;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:58:0:0:83:2633:302.80:147.99:154.81:1.00:1.00:1.00:60:50.7:0:0:79:58:43:NM_004226.3(STK17B) c.222A>G (p.(=)),NM_004226.3(STK17B) c.222A>G (p.(=)):0.49,0.49:0.451868,0.451868 2 197021372 rs12478353 T A 218 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=1.000;Gene=STK17B/NM_004226.3/1;CC=c.126A>T;ProtCh=p.G42=;VC=Silent;DM=STK17B/Pkinase;DM=STK17B/Pkinase;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:A:62:29:0:0:62:1883:217.77:64.53:153.23:1.00:1.00:1.00:60:53.3:0:0:98:43:25:NM_004226.3(STK17B) c.126A>T (p.(=)),NM_004226.3(STK17B) c.126A>T (p.(=)):0.67,0.67:0.548516,0.548516 2 197021376 . C . . NT END=197027985;NT GT ./. 2 197027792 rs1519602 T G 34 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=STK17B/NM_004226.3/1;CC=c.122+194A>C;VC=Intron;DM=STK17B/Pkinase;DM=STK17B/Pkinase;DM=STK17B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:9:0:0:10:290:33.69:32.15:1.54:1.00:1.00:1.00:60:56.6:0:0:41:109:16:NM_004226.3(STK17B) c.122+194A>C,NM_004226.3(STK17B) c.122+194A>C:0.72,0.72:NOT_FOUND,NOT_FOUND 2 197028108 . G . . NT END=197066000;NT GT ./. 2 197065889 rs3795921 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.*112T>C;VC=3UTR;Gene=HECW2/NM_020760.2/1;CC=c.*112T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:14:14:0:0:5,9:172,206:0.00,20.61:0.00,20.83:0.00,-0.22:0.00,1.00:0.00,1.00:0.00,0.76:60,60:8.2,62.1:0,0:0,0:77,27:73,124:33,13:-,NM_020760.1(HECW2) c.=:-,0.81:-,NOT_FOUND 2 197065964 rs3820908 C A 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.*37G>T;VC=3UTR;Gene=HECW2/NM_020760.2/1;CC=c.*37G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:32:30:0:0:16,16:473,487:45.28,0.00:37.59,0.00:7.69,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:50.5,8.9:0,0:0,0:46,42:88,108:37,24:NM_020760.1(HECW2) c.=,-:0.71,-:0.659566,- 2 197066113 . C . . NT END=197080588;NT GT ./. 2 197066175 rs4566380 T G 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.3540-63A>C;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.4608-63A>C;VC=Intron;DM=HECW2/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:5:0:1:12,13:380,420:36.22,0.00:8.31,0.00:27.91,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:35.7,11.4:0,0:0,0:120,78:30,73:22,28:NM_020760.1(HECW2) c.4608-63A>C,-:0.72,-:NOT_FOUND,- 2 197080702 . C . . NT END=197081731;NT GT ./. 2 197081818 . C . . NT END=197084762;NT GT ./. 2 197084672 rs112491032 T C 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=43;Gene=HECW2/NM_001304840.1/0;CC=c.3340+91A>G;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.4408+91A>G;VC=Intron;DM=HECW2/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:7,11:204,382:18.50,0.00:18.50,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:50.4,0.0:0,0:0,0:60,61:91,89:18,9:NM_020760.1(HECW2) c.4408+91A>G,-:0.01,-:NOT_FOUND,- 2 197084878 . C . . NT END=197085518;NT GT ./. 2 197084982 rs2305568 T C 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.3226-105A>G;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.4294-105A>G;VC=Intron;DM=HECW2/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:0:0:0:19:556:64.53:0.00:64.53:1.00:0.00:1.00:60:34.2:0:0:72:78:44:NM_020760.1(HECW2) c.4294-105A>G,NM_020760.1(HECW2) c.4294-105A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 2 197085666 . C . . NT END=197086934;NT GT ./. 2 197085823 rs2290512 C T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.3079-158G>A;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.4147-158G>A;VC=Intron;DM=HECW2/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:0:0:0:8,10:283,316:0.00,31.00:0.00,0.00:0.00,31.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.5,37.1:0,0:0,0:91,108:60,42:28,34:-,NM_020760.1(HECW2) c.4147-158G>A:-,0.2:-,NOT_FOUND 2 197087065 . C . . NT END=197090495;NT GT ./. 2 197087162 rs3816517 A C 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2949-98T>G;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.4017-98T>G;VC=Intron;DM=HECW2/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:2:0:0:15:423:49.43:3.88:45.56:1.00:1.00:1.00:60:49.6:0:0:110:39:29:NM_020760.1(HECW2) c.4017-98T>G,NM_020760.1(HECW2) c.4017-98T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 197090595 . C . . NT END=197092825;NT GT ./. 2 197092767 rs3748873 A G 83 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HECW2/NM_001304840.1/0;CC=c.2849+59T>C;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3917+59T>C;VC=Intron;DM=HECW2/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:17:0:0:21:729:82.92:63.28:19.63:1.00:1.00:1.00:60:37.2:0:0:38:113:19:NM_020760.1(HECW2) c.3917+59T>C,NM_020760.1(HECW2) c.3917+59T>C:0.28,0.28:NOT_FOUND,NOT_FOUND 2 197092979 . C . . NT END=197105172;NT GT ./. 2 197093104 rs10931732 G A 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2697-126C>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3765-126C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:2:0:0:19:560:65.04:3.12:61.92:1.00:1.00:1.00:60:39.4:0:0:87:63:31:NM_020760.1(HECW2) c.3765-126C>T,NM_020760.1(HECW2) c.3765-126C>T:0.27,0.27:NOT_FOUND,NOT_FOUND 2 197105022 rs35227584 T TA 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=332;NP=5;Gene=HECW2/NM_001304840.1/0;CC=c.2696+150dupT;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3764+150dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TA:6:6:4:0:2,4:67,127:0.00,12.95:0.00,12.95:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:23.5,44.0:0,0:0,0:58,43:91,106:37,22:-,NM_020760.1(HECW2) c.3764+150_3764+151insT:-,NOT_FOUND:-,NOT_FOUND 2 197105287 . C . . NT END=197106807;NT GT ./. 2 197105490 rs5837496 G GTAAA 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=223;Gene=HECW2/NM_001304840.1/0;CC=c.2583-205_2583-204insTTTA;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3651-205_3651-204insTTTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:G,GTAAA:4:0:2:0:2,2:65,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:13.0,0.0:0,0:0,0:144,128:4,22:1,0:-,NM_020760.1(HECW2) c.3651-205_3651-204insTTTA:-,0.96:-,NOT_FOUND 2 197106759 rs2045277 T C 161 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2582+49A>G;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3650+49A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:87:A,C:50:45:0:0:2,48:45,1391:2.85,160.98:1.61,128.36:1.24,32.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.0,33.9:1,0:0,0:62,61:68,87:50,40:NM_020760.1(HECW2) c.3650+49A>G,NM_020760.1(HECW2) c.3650+49A>G:0.82,0.82:0.828925,0.828925 2 197106929 . C . . NT END=197118643;NT GT ./. 2 197107082 rs2290511 A G 76 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2462-154T>C;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3530-154T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:1:0:0:20:662:75.73:1.99:73.74:1.00:1.00:1.00:60:42.2:0:0:103:46:37:NM_020760.1(HECW2) c.3530-154T>C,NM_020760.1(HECW2) c.3530-154T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 197107205 rs16847894 G A 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HECW2/NM_001304840.1/0;CC=c.2462-277C>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3530-277C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:189:22.17:0.00:22.17:1.00:0.00:1.00:60:71.3:0:0:76:75:48:NM_020760.1(HECW2) c.3530-277C>T,NM_020760.1(HECW2) c.3530-277C>T:0.27,0.27:NOT_FOUND,NOT_FOUND 2 197118729 rs4850690 C T 124 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.002;Gene=HECW2/NM_001304840.1/0;CC=c.2376G>A;ProtCh=p.S792=;VC=Silent;Gene=HECW2/NM_020760.2/1;CC=c.3444G>A;ProtCh=p.S1148=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:T:33:21:0:0:33:1083:124.01:54.43:69.58:1.00:1.00:1.00:60:35.2:0:0:86:63:26:NM_020760.1(HECW2) c.=,NM_020760.1(HECW2) c.=:0.97,0.97:0.96763,0.96763 2 197118754 . C . . NT END=197122546;NT GT ./. 2 197122493 rs6731238 T G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2351+54A>C;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3419+54A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:22:19:0:0:1,8,13:15,254,430:0.45,23.15,0.00:-0.20,13.83,0.00:0.65,9.32,0.00:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:15.0,31.8,7.7:0,0,0:0,0,0:2,42,18:149,109,133:0,37,8:NM_020760.1(HECW2) c.3419+54A>C,-:0.4,-:0.501095,- 2 197122631 . C . . NT END=197135916;NT GT ./. 2 197135806 rs4850693 T C 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2267+111A>G;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3335+111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:9,8:293,255:28.49,0.00:28.49,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:61.9,17.4:0,0:0,0:56,32:94,119:28,19:NM_020760.1(HECW2) c.3335+111A>G,-:0.53,-:NOT_FOUND,- 2 197136014 . C . . NT END=197138744;NT GT ./. 2 197136174 rs386392234 A AT 30 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=360;PC=0.005;Gene=HECW2/NM_001304840.1/0;CC=c.2171-162_2171-161insA;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3239-162_3239-161insA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:A,AT:11:0:9:0:2,9:64,283:0.00,30.33:0.00,0.00:0.00,30.33:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,4.7:0,0:0,0:142,83:9,68:1,25:-,NM_020760.1(HECW2) c.3239-162_3239-161insA:-,NOT_FOUND:-,NOT_FOUND 2 197138653 rs72923327 G A 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2170+92C>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3238+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:14:0:0:6,8:201,256:18.82,0.00:18.94,0.00:-0.12,0.00:0.96,0.00:0.96,0.00:0.62,0.00:60,60:63.0,14.5:0,0:0,0:56,49:94,101:25,14:NM_020760.1(HECW2) c.3238+92C>T,-:0.17,-:NOT_FOUND,- 2 197138654 rs72923330 C A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2170+91G>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3238+91G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:176:A,C:15:15:0:0:6,9:177,307:16.17,0.00:16.28,0.00:-0.11,0.00:0.96,0.00:0.96,0.00:0.60,0.00:60,60:63.0,12.9:0,0:0,0:57,39:93,112:25,22:NM_020760.1(HECW2) c.3238+91G>T,-:0.17,-:NOT_FOUND,- 2 197138848 . C . . NT END=197143251;NT GT ./. 2 197143111 rs62184599 G A 113 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.2067+141C>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3135+141C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A:30:30:0:0:30:990:113.27:113.27:0.00:1.00:1.00:0.00:60:45.5:0:0:37:113:23:NM_020760.1(HECW2) c.3135+141C>T,NM_020760.1(HECW2) c.3135+141C>T:0.12,0.12:NOT_FOUND,NOT_FOUND 2 197143139 . CA C 16 idl,rn VT=DEL;SST=Single;DP=41;NP=28;Gene=HECW2/NM_001304840.1/0;CC=c.2067+112delT;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3135+112delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:CA,I,C:39:41:2:9:31,2,6:1007,68,258:0.00,4.46,15.63:0.00,4.47,15.66:0.00,-0.01,-0.03:0.00,0.00,0.87:0.00,0.00,0.87:0.00,0.00,0.43:60,60,60:33.0,48.5,41.2:0,0,2:0,0,0:36,85,58:115,65,92:26,12,16:-,NM_020760.1(HECW2) c.3135+112delT:-,NOT_FOUND:-,NOT_FOUND 2 197143387 . C . . NT END=197157288;NT GT ./. 2 197143631 rs6738407 G A 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HECW2/NM_001304840.1/0;CC=c.1933-245C>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.3001-245C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:152:18.00:0.00:18.00:1.00:0.00:1.00:60:27.0:0:0:88:62:30:NM_020760.1(HECW2) c.3001-245C>T,NM_020760.1(HECW2) c.3001-245C>T:0.18,0.18:NOT_FOUND,NOT_FOUND 2 197157475 . C . . NT END=197171211;NT GT ./. 2 197171060 rs16849311 G A 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.1746+152C>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.2814+152C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:259,197:25.25,0.00:25.25,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.5,20.4:0,0:0,0:52,33:99,118:37,23:NM_020760.1(HECW2) c.2814+152C>T,-:0.03,-:NOT_FOUND,- 2 197171337 . C . . NT END=197171853;NT GT ./. 2 197171958 . C . . NT END=197172658;NT GT ./. 2 197172406 rs1869794 G T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.1517+253C>A;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.2585+253C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:6:0:0:7:198:23.13:19.45:3.68:1.00:1.00:1.00:60:59.7:0:0:80:65:44:NM_020760.1(HECW2) c.2585+253C>A,NM_020760.1(HECW2) c.2585+253C>A:0.11,0.11:NOT_FOUND,NOT_FOUND 2 197172742 rs61752161 C T 180 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.1434G>A;ProtCh=p.T478=;VC=Silent;Gene=HECW2/NM_020760.2/1;CC=c.2502G>A;ProtCh=p.T834=;VC=Silent;DM=HECW2/WW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:75:0:0:54,56:1730,1865:0.00,180.13:0.00,84.37:0.00,95.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.3,38.0:0,0:0,0:85,83:65,64:35,34:-,NM_020760.1(HECW2) c.2502G>A (p.(=)):-,0.01:-,0.02099 2 197172810 . C . . NT END=197181997;NT GT ./. 2 197172856 rs41510048 A T 185 nt VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.1367-47T>A;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.2435-47T>A;VC=Intron;DM=HECW2/WW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:T:50:17:0:0:50:1616:185.40:42.38:143.01:1.00:1.00:1.00:60:39.1:0:0:90:60:27:NM_020760.1(HECW2) c.2435-47T>A,NM_020760.1(HECW2) c.2435-47T>A:0.11,0.11:0.161129,0.161129 2 197179873 . AGTGTGTGTGT A 18 nt VT=DEL;SST=Single;DP=6;PC=0.002;Gene=HECW2/NM_001304840.1/0;CC=c.1366+2115_1366+2124delACACACACAC;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.2434+2115_2434+2124delACACACACAC;VC=Intron;DM=HECW2/WW;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:6:5:193:17.89:8.74:9.14:0.99:1.00:1.00:60:20.2:1:0:47:102:27:NM_020760.1(HECW2) c.2434+2115_2434+2124delACACACACAC,NM_020760.1(HECW2) c.2434+2115_2434+2124delACACACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 197182094 . C . . NT END=197183275;NT GT ./. 2 197184629 . C . . NT END=197185062;NT GT ./. 2 197185164 . C . . NT END=197187201;NT GT ./. 2 197187345 . C . . NT END=197189703;NT GT ./. 2 197189874 . C . . NT END=197194298;NT GT ./. 2 197194375 . C . . NT END=197195854;NT GT ./. 2 197196012 rs10210442 G A 222 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.-401-1638C>T;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.496-1638C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:32:0:0:60:1933:221.80:91.11:130.69:1.00:1.00:1.00:60:40.5:0:0:84:57:35:NM_020760.1(HECW2) c.496-1638C>T,NM_020760.1(HECW2) c.496-1638C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 197196043 . T . . NT END=197199147;NT GT ./. 2 197199243 . C . . NT END=197208380;NT GT ./. 2 197208489 . C . . NT END=197226535;NT GT ./. 2 197208531 rs6716054 T G 125 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.-604-43A>C;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.293-43A>C;VC=Intron;DM=HECW2/HECW_N;DM=HECW2/HECW_N;DM=HECW2/HECW_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:12:0:0:35:1083:124.91:30.21:94.70:1.00:1.00:1.00:60:41.7:0:0:96:54:34:NM_020760.1(HECW2) c.293-43A>C,NM_020760.1(HECW2) c.293-43A>C:0.29,0.29:0.358231,0.358231 2 197208686 rs6761329 G T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_001304840.1/0;CC=c.-604-198C>A;VC=Intron;Gene=HECW2/NM_020760.2/1;CC=c.293-198C>A;VC=Intron;DM=HECW2/HECW_N;DM=HECW2/HECW_N;DM=HECW2/HECW_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:225:25.84:0.00:25.84:1.00:0.00:1.00:60:33.4:0:0:89:62:49:NM_020760.1(HECW2) c.293-198C>A,NM_020760.1(HECW2) c.293-198C>A:0.29,0.29:NOT_FOUND,NOT_FOUND 2 197226901 . T . . NT END=197297855;NT GT ./. 2 197297666 rs7586270 C T 9 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_020760.2/1;CC=c.292+190G>A;VC=Intron;DM=HECW2/HECW_N;DM=HECW2/HECW_N;DM=HECW2/HECW_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,C,T:7:7:0:0:1,3,3:10,101,97:0.47,0.00,9.30:0.47,0.00,9.30:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,60:78.0,0.0,32.3:0,0,0:0,0,0:78,13,5:73,137,146:0,7,1:-,NM_020760.1(HECW2) c.292+190G>A:-,0.73:-,NOT_FOUND 2 197298148 . C . . NT END=197504490;NT GT ./. 2 197298222 rs2204641 T C 89 nt VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_020760.2/1;CC=c.-35-40A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:23:0:0:29,34:938,1010:88.74,0.00:15.76,0.00:72.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.0,9.3:0,0:0,0:96,102:55,39:35,23:NM_020760.1(HECW2) c.-35-40A>G,-:0.97,-:NOT_FOUND,- 2 197298232 rs2204640 C T 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=HECW2/NM_020760.2/1;CC=c.-35-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:18:0:0:32,27:980,851:0.00,80.35:0.00,10.47:0.00,69.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,74.9:0,0:0,0:104,114:40,37:22,31:-,NM_020760.1(HECW2) c.-35-50G>A:-,0.98:-,NOT_FOUND 2 197356093 rs67409257 TAC T 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=168;PC=0.001;Gene=HECW2/NM_020760.2/1;CC=c.-35-57913_-35-57912delGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TAC,T:4:3:0:3:1,3:34,94:0.00,9.85:0.00,7.00:0.00,2.85:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,10.3:0,0:0,0:126,55:25,81:0,0:-,NM_020760.1(HECW2) c.-35-57913_-35-57912delGT:-,NOT_FOUND:-,NOT_FOUND 2 197504503 . G . . NT END=197511064;NT GT ./. 2 197504545 rs1879128 C G 89 nt VT=SNV;PN=G;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.12+43C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:65:33:0:0:36,29:1240,943:0.00,88.72:0.00,27.64:0.00,61.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,39.7:0,0:0,0:101,95:46,54:32,31:-,NM_001080539.1(CCDC150) c.12+43C>G:-,0.73:-,0.641753 2 197511229 . G . . NT END=197521356;NT GT ./. 2 197521252 rs1519678 C T 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.124;Gene=CCDC150/NM_001080539.1/1;CC=c.177-105C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:9,9:302,268:0.00,25.64:0.00,25.64:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,36.2:0,0:0,0:25,102:123,49:17,38:-,NM_001080539.1(CCDC150) c.177-105C>T:-,0.83:-,NOT_FOUND 2 197521578 . G . . NT END=197521681;NT GT ./. 2 197521861 . G . . NT END=197523515;NT GT ./. 2 197523585 . G . . NT END=197530290;NT GT ./. 2 197530408 . G . . NT END=197531442;NT GT ./. 2 197531199 rs7589723 T C 10 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.763-244T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:6:6:0:0:3,3:100,68:9.65,0.00:9.65,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:40.3,36.7:0,0:0,0:9,68:142,76:1,60:NM_001080539.1(CCDC150) c.763-244T>C,-:0.9,-:NOT_FOUND,- 2 197531518 . C CA 17 idl,rn VT=INS;SST=Single;DP=52;NP=6;PC=0.810;Gene=CCDC150/NM_001080539.1/1;CC=c.849dupA;ProtCh=p.E284Rfs*13;VC=FrameShiftIns;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,C,CA,D:49:42:8:4:1,39,7,2:9,1273,259,131:-0.19,0.00,17.40,4.06:-0.19,0.00,11.33,0.79:0.01,0.00,6.06,3.27:0.00,0.00,0.92,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.97,0.00:60,60,70,60:29.0,8.1,8.4,12.0:0,0,1,2:0,0,0,0:72,99,85,90:79,49,64,61:0,22,31,33:-,NM_001080539.1(CCDC150) c.849dupA (p.Glu284Argfs*13):-,NOT_FOUND:-,NOT_FOUND 2 197531573 . G . . NT END=197534556;NT GT ./. 2 197531737 rs2376098 C G 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.892+165C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:C,G:9:0:0:0:2,7:46,236:0.00,24.91:0.00,0.00:0.00,24.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:96.5,63.1:0,0:0,0:132,62:14,89:9,23:-,NM_001080539.1(CCDC150) c.892+165C>G:-,0.8:-,NOT_FOUND 2 197531808 rs4850721 C G 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CCDC150/NM_001080539.1/1;CC=c.892+236C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:7:0:0:0:2,5:65,161:0.00,16.67:0.00,0.00:0.00,16.67:0.00,0.98:0.00,0.00:0.00,0.98:60,60:24.5,78.4:0,0:0,0:41,114:105,36:13,14:-,NM_001080539.1(CCDC150) c.892+236C>G:-,0.79:-,NOT_FOUND 2 197534601 . G . . NT END=197537068;NT GT ./. 2 197534692 rs7590083 C T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.936+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,T:6:2:0:0:1,5:10,167:0.00,17.98:0.00,3.75:0.00,14.24:0.00,0.99:0.00,0.98:0.00,0.99:60,60:229.0,33.4:0,0:0,0:67,111:52,40:0,19:NM_001080539.1(CCDC150) c.936+92C>T,NM_001080539.1(CCDC150) c.936+92C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 197537162 . G . . NT END=197538964;NT GT ./. 2 197539073 . G . . NT END=197540866;NT GT ./. 2 197540992 . G . . NT END=197541277;NT GT ./. 2 197541456 . G . . NT END=197542016;NT GT ./. 2 197542086 . G . . NT END=197559769;NT GT ./. 2 197559884 . G . . NT END=197565832;NT GT ./. 2 197565905 . G . . NT END=197576868;NT GT ./. 2 197576977 . G . . NT END=197577400;NT GT ./. 2 197577464 . G . . NT END=197583226;NT GT ./. 2 197583356 . G . . NT END=197584220;NT GT ./. 2 197584391 . G . . NT END=197585298;NT GT ./. 2 197584504 rs2680970 C T 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.2165+114C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:14:0:0:0:10,4:301,109:0.00,9.17:0.00,0.00:0.00,9.17:0.00,0.77:0.00,0.00:0.00,0.77:60,60:25.5,45.0:0,0:0,0:97,107:39,43:23,9:-,NM_001080539.1(CCDC150) c.2165+114C>T:-,0.84:-,NOT_FOUND 2 197585393 . G . . NT END=197586245;NT GT ./. 2 197586085 rs146765179 T C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.2260-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:8:8:0:0:3,5:97,126:8.84,0.00:8.84,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:32.3,4.6:0,1:0,0:16,24:126,127:2,8:NM_001080539.1(CCDC150) c.2260-161T>C,-:0.33,-:NOT_FOUND,- 2 197586416 . G . . NT END=197590696;NT GT ./. 2 197590824 . G . . NT END=197593916;NT GT ./. 2 197593787 rs2460436 C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.2557-130C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:14:0:0:7,8:232,239:0.00,23.17:0.00,23.51:0.00,-0.33:0.00,1.00:0.00,1.00:0.00,0.69:60,60:1.6,31.8:0,0:0,0:37,46:114,105:24,18:-,NM_001080539.1(CCDC150) c.2557-130C>T:-,0.84:-,NOT_FOUND 2 197594112 . G . . NT END=197594516;NT GT ./. 2 197594203 rs2577580 G C 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.2751+92G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:22:4:0:0:8,14:223,478:19.82,0.00:2.40,0.00:17.42,0.00:0.99,0.00:0.84,0.00:1.00,0.00:60,60:42.8,11.8:0,0:0,0:98,88:52,62:39,32:NM_001080539.1(CCDC150) c.2751+92G>C,-:0.84,-:NOT_FOUND,- 2 197594586 . G . . NT END=197594680;NT GT ./. 2 197594843 . G . . NT END=197595582;NT GT ./. 2 197595670 . G . . NT END=197596756;NT GT ./. 2 197595762 rs2680967 G A 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=CCDC150/NM_001080539.1/1;CC=c.3069+93G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:4:0:0:12,11:396,367:38.41,0.00:7.18,0.00:31.23,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:33.0,22.5:0,0:0,0:109,105:41,45:32,24:NM_001080539.1(CCDC150) c.3069+93G>A,-:0.7,-:NOT_FOUND,- 2 197596877 . G . . NT END=197597169;NT GT ./. 2 197597287 . T . . NT END=197629286;NT GT ./. 2 197629410 . C . . NT END=197631288;NT GT ./. 2 197629531 rs56828869 TA T 32 rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=636;PC=0.025;Gene=GTF3C3/NM_012086.4/1;CC=c.2539-123delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:23:3:0:11:12,11:394,340:0.00,32.33:0.00,-0.42:0.00,32.75:0.00,1.00:0.00,0.87:0.00,1.00:60,60:2.8,14.4:0,0:0,0:97,117:53,34:27,16:-,NM_012086.4(GTF3C3) c.2539-123delT:-,NOT_FOUND:-,NOT_FOUND 2 197631442 . C . . NT END=197634638;NT GT ./. 2 197634764 . C . . NT END=197636471;NT GT ./. 2 197636379 rs62185599 A G 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=GTF3C3/NM_012086.4/1;CC=c.2260+93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:27:0:0:12,15:389,442:0.00,43.25:0.00,43.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.0,35.2:0,0:0,0:75,54:75,95:34,40:-,NM_012086.4(GTF3C3) c.2260+93T>C:-,0.22:-,NOT_FOUND 2 197636663 . C . . NT END=197637639;NT GT ./. 2 197637878 . C . . NT END=197639839;NT GT ./. 2 197639976 . C . . NT END=197640733;NT GT ./. 2 197640500 rs16857846 A C 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=GTF3C3/NM_012086.4/1;CC=c.1695+234T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,C:7:7:0:0:2,5:46,170:0.00,17.59:0.00,17.59:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:14.0,52.0:0,0:0,0:64,38:87,112:18,26:-,NM_012086.4(GTF3C3) c.1695+234T>G:-,0.08:-,NOT_FOUND 2 197640836 . C . . NT END=197641150;NT GT ./. 2 197641354 . C . . NT END=197643619;NT GT ./. 2 197643792 . C . . NT END=197644812;NT GT ./. 2 197643854 . CT C 9 idl,rn VT=DEL;SST=Single;DP=35;NP=18;PC=0.002;Gene=GTF3C3/NM_012086.4/1;CC=c.1219-64delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:CT,I,C:30:12:1:9:25,1,4:814,33,250:0.00,1.92,8.53:0.00,-0.12,-0.47:0.00,2.04,9.00:0.00,0.00,0.61:0.00,0.00,0.69:0.00,0.00,0.92:60,60,60:17.4,0.0,93.5:0,0,5:0,0,0:108,97,87:36,52,63:27,0,28:-,NM_012086.4(GTF3C3) c.1219-64delA:-,NOT_FOUND:-,NOT_FOUND 2 197644939 rs57683313 C CT 47 idl,rn VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=205;Gene=GTF3C3/NM_012086.4/1;CC=c.1218+343dupA;VC=Intron;Gene=GTF3C3/NM_001206774.1/0;CC=c.*319dupA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:44:43:21:1:26,17,1:734,619,33:0.00,47.04,1.86:0.00,32.60,1.91:0.00,14.44,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:21.1,49.4,0.0:1,4,0:0,0,0:57,76,80:86,72,71:39,40,0:-,NM_012086.4(GTF3C3) c.1218+343_1218+344insA:-,NOT_FOUND:-,NOT_FOUND 2 197645387 . C . . NT END=197649491;NT GT ./. 2 197649573 . A . . NT END=197649580;NT GT ./. 2 197649654 . C . . NT END=197650164;NT GT ./. 2 197650313 . C . . NT END=197653927;NT GT ./. 2 197654094 . C . . NT END=197654602;NT GT ./. 2 197654795 . C . . NT END=197656060;NT GT ./. 2 197656185 . C . . NT END=197657679;NT GT ./. 2 197657877 . C . . NT END=197662520;NT GT ./. 2 197662633 . C . . NT END=197664233;NT GT ./. 2 197664336 . G . . NT END=197672166;NT GT ./. 2 197664521 rs6434886 A T 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:386:44.32:0.00:44.32:1.00:0.00:1.00:60:39.6:0:0:129:21:6:NM_012086.4(GTF3C3) c.-157-u29T>A,NM_012086.4(GTF3C3) c.-157-u29T>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 197672347 . C . . NT END=197673937;NT GT ./. 2 197672487 rs11378936 G GT 16 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=226;Gene=C2orf66/NM_213608.2/1;CC=c.175-142dupA;VC=Intron;DM=C2orf66/DUF4720;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:G,GT:9:0:5:0:4,5:124,160:0.00,15.70:0.00,0.00:0.00,15.70:0.00,0.96:0.00,0.00:0.00,0.96:60,60:20.5,0.0:0,0:0,0:106,99:38,52:41,25:-,NM_213608.2(C2orf66) c.175-142_175-141insA:-,0.08:-,NOT_FOUND 2 197674112 . T . . NT END=197705957;NT GT ./. 2 197706097 . C . . NT END=197707444;NT GT ./. 2 197707550 . C . . NT END=197708611;NT GT ./. 2 197708800 . C . . NT END=197709247;NT GT ./. 2 197709299 . C . . NT END=197710605;NT GT ./. 2 197710742 . C . . NT END=197711726;NT GT ./. 2 197711925 . C . . NT END=197712670;NT GT ./. 2 197712762 . C . . NT END=197729710;NT GT ./. 2 197729805 . C . . NT END=197735664;NT GT ./. 2 197735704 . C . . NT END=197737164;NT GT ./. 2 197737274 . C . . NT END=197737683;NT GT ./. 2 197737587 rs3795915 T G 33 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.337;Gene=PGAP1/NM_024989.3/1;CC=c.1619+97A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:G,T:11:10:0:0:9,2:306,51:32.64,0.00:31.44,0.00:1.21,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:34.0,0.0:0,0:0,0:48,63:102,87:24,1:NM_024989.3(PGAP1) c.1619+97A>C,-:0.22,-:NOT_FOUND,- 2 197737751 . C . . NT END=197738251;NT GT ./. 2 197738304 . C . . NT END=197738408;NT GT ./. 2 197738483 . C . . NT END=197740469;NT GT ./. 2 197740546 . C . . NT END=197744799;NT GT ./. 2 197744878 . C . . NT END=197750147;NT GT ./. 2 197750042 rs365342 G A 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=PGAP1/NM_024989.3/1;CC=c.1272+106C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:12:12:0:0:6,6:200,197:19.25,0.00:19.25,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:35.7,13.3:0,0:0,0:57,34:92,115:23,17:NM_024989.3(PGAP1) c.1272+106C>T,-:0.07,-:NOT_FOUND,- 2 197750200 . C . . NT END=197750557;NT GT ./. 2 197750605 . C . . NT END=197755551;NT GT ./. 2 197755636 . C . . NT END=197757069;NT GT ./. 2 197757126 . C . . NT END=197757863;NT GT ./. 2 197757970 . C . . NT END=197761854;NT GT ./. 2 197761824 rs332300 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=PGAP1/NM_024989.3/1;CC=c.927+31A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:23:0:0:9,17:314,558:28.41,0.00:17.07,0.00:11.34,0.00:0.99,0.00:1.00,0.00:0.99,0.00:60,60:34.9,4.6:0,0:0,0:36,57:115,94:30,24:NM_024989.3(PGAP1) c.927+31A>G,-:0.22,-:0.281067,- 2 197761922 . C . . NT END=197763040;NT GT ./. 2 197762941 rs369035974 CA C 8 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=30;PC=0.003;Gene=PGAP1/NM_024989.3/1;CC=c.860+99delT;VC=Intron;DM=PGAP1/PGAP1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:CA,I,C:16:17:1:4:12,1,3:409,27,132:0.00,1.63,7.96:0.00,1.63,7.96:0.00,0.00,0.00:0.00,0.00,0.53:0.00,0.00,0.53:0.00,0.00,0.00:60,60,60:1.9,0.0,0.0:0,0,1:0,0,0:39,98,45:112,52,104:31,0,27:-,NM_024989.3(PGAP1) c.860+99delT:-,NOT_FOUND:-,NOT_FOUND 2 197763094 . C . . NT END=197767308;NT GT ./. 2 197767467 . C . . NT END=197777605;NT GT ./. 2 197777589 rs12693800 C T 99 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PGAP1/NM_024989.3/1;CC=c.649+17G>A;VC=Intron;DM=PGAP1/PGAP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:42:0:0:21,31:706,998:0.00,99.36:0.00,79.42:0.00,19.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,42.1:0,0:0,0:35,61:114,79:28,35:-,NM_024989.3(PGAP1) c.649+17G>A:-,0.93:-,0.883208 2 197777778 . C . . NT END=197781141;NT GT ./. 2 197778048 rs4850405 G T 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PGAP1/NM_024989.3/1;CC=c.478-271C>A;VC=Intron;DM=PGAP1/PGAP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:G,T:4:0:0:0:2,2:44,69:0.00,6.66:0.00,0.00:0.00,6.66:0.00,0.51:0.00,0.00:0.00,0.51:60,60:4.5,34.5:0,0:0,0:131,28:19,122:7,6:-,NM_024989.3(PGAP1) c.478-271C>A:-,0.92:-,NOT_FOUND 2 197781318 . C . . NT END=197784720;NT GT ./. 2 197784875 . C . . NT END=197786826;NT GT ./. 2 197787188 . TA T 29 idl,rn VT=DEL;SST=Single;DP=69;NP=5;PC=0.002;Gene=PGAP1/NM_024989.3/1;CC=c.148-2315delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,TA,I,T:65:53:1:17:1,1,50,1,12:11,12,1437,33,490:-0.14,-0.10,0.00,1.62,29.40:-0.18,0.02,0.00,1.75,22.19:0.05,-0.12,0.00,-0.12,7.21:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:71.0,86.0,23.9,25.0,21.1:0,0,0,0,4:0,0,0,0,0:102,134,96,25,76:48,17,51,125,62:0,0,37,0,34:-,NM_024989.3(PGAP1) c.148-2315delT:-,NOT_FOUND:-,NOT_FOUND 2 197787301 rs72249983 GAC G 42 idl,rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=6;PC=0.050;Gene=PGAP1/NM_024989.3/1;CC=c.148-2429_148-2428delGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GAC,T,I,G:46:26:6:25:7,17,2,6,14:152,520,55,189,570:11.57,0.00,3.38,15.30,42.02:5.08,0.00,-0.12,5.33,21.88:6.50,0.00,3.50,9.97,20.15:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:49.3,11.5,91.5,15.3,16.7:0,0,0,0,4:0,0,0,0,0:67,124,104,83,71:63,20,32,66,79:33,15,24,15,9:-,NM_024989.3(PGAP1) c.148-2429_148-2428delGT:-,NOT_FOUND:-,NOT_FOUND 2 197787387 . T . . NT END=197791193;NT GT ./. 2 197791341 . G . . NT END=197851385;NT GT ./. 2 197791455 rs62185195 G A 112 nt VT=SNV;PN=C;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:17:0:0:39,45:1184,1442:111.81,0.00:20.18,0.00:91.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.7,5.9:0,0:0,0:114,96:37,54:29,43:NM_024989.3(PGAP1) c.-114-u1C>T,-:0.01,-:NOT_FOUND,- 2 197853567 rs2256931 A G 355 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=NA;PC=0.176;Gene=ANKRD44/NM_001195144.1/1;CC=c.*748T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:103:60:0:0:103:3060:354.81:157.12:197.69:1.00:1.00:1.00:60:38.2:0:0:77:70:40:NM_001195144.1(ANKRD44) c.*748T>C,NM_001195144.1(ANKRD44) c.*748T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 2 197854002 rs34354879 CAA C 14 idl,rn VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=0.018;Gene=ANKRD44/NM_001195144.1/1;CC=c.*311_*312delTT;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,CAA,I,C:53:41:8:12:6,35,6,6:87,1154,235,329:4.31,0.00,13.37,13.57:-1.21,0.00,9.10,3.94:5.52,0.00,4.27,9.63:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.85:60,60,70,60:64.0,54.9,108.8,112.5:0,0,4,5:0,0,0,0:55,76,60,84:78,73,84,67:37,41,35,22:-,NM_001195144.1(ANKRD44) c.*298T[13]:-,NOT_FOUND:-,NOT_FOUND 2 197854023 rs13003938 G A 239 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ANKRD44/NM_001195144.1/1;CC=c.*292C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:45:0:0:67:2072:239.01:135.63:103.38:1.00:1.00:1.00:70:58.5:0:0:77:71:34:NM_001195144.1(ANKRD44) c.*292C>T,NM_001195144.1(ANKRD44) c.*292C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 2 197854247 rs71410632 C CACAT 257 idl VT=INS;SST=Single;DP=98;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;Gene=ANKRD44/NM_001195144.1/1;CC=c.*67_*68insATGT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T,CACAT:87:66:87:0:10,1,76:312,9,2682:0.00,0.04,257.06:0.00,-0.02,144.14:0.00,0.06,112.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:6.5,9.0,15.5:0,0,11:0,0,0:85,26,92:65,125,58:16,0,27:-,NM_001195144.1(ANKRD44) c.*67_*68insATGT:-,NOT_FOUND:-,NOT_FOUND 2 197855152 rs715185 T C 309 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=0.989;Gene=ANKRD44/NM_001195144.1/1;CC=c.2924-779A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:82:52:0:0:82:2705:309.48:164.45:145.03:1.00:1.00:1.00:60:37.9:0:0:85:65:37:NM_001195144.1(ANKRD44) c.2924-779A>G,NM_001195144.1(ANKRD44) c.2924-779A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 2 197855652 . C . . NT END=197858306;NT GT ./. 2 197858129 rs1036542 T C 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.2923+178A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:473:53.98:53.98:0.00:1.00:1.00:0.00:60:40.9:0:0:29:122:14:NM_001195144.1(ANKRD44) c.2923+178A>G,NM_001195144.1(ANKRD44) c.2923+178A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 2 197858399 . C . . NT END=197860102;NT GT ./. 2 197859867 rs1437867 G C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.007;Gene=ANKRD44/NM_001195144.1/1;CC=c.2831+236C>G;VC=Intron;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:60:36.0:0:0:34:117:11:NM_001195144.1(ANKRD44) c.2831+236C>G,NM_001195144.1(ANKRD44) c.2831+236C>G:0.82,0.82:NOT_FOUND,NOT_FOUND 2 197860186 . C . . NT END=197863060;NT GT ./. 2 197860406 rs7595528 G C 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ANKRD44/NM_001195144.1/1;CC=c.2749-221C>G;VC=Intron;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:170:19.38:0.00:19.38:1.00:0.00:1.00:60:38.8:0:0:131:20:5:NM_001195144.1(ANKRD44) c.2749-221C>G,NM_001195144.1(ANKRD44) c.2749-221C>G:0.53,0.53:NOT_FOUND,NOT_FOUND 2 197862903 rs2376209 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.2748+158A>G;VC=Intron;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:32.2:0:0:9:141:6:NM_001195144.1(ANKRD44) c.2748+158A>G,NM_001195144.1(ANKRD44) c.2748+158A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 197863144 . C . . NT END=197863630;NT GT ./. 2 197863214 rs1966703 C T 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.2666-71G>A;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:8:0:0:22:653:75.63:18.13:57.50:1.00:1.00:1.00:60:38.5:0:0:108:42:27:NM_001195144.1(ANKRD44) c.2666-71G>A,NM_001195144.1(ANKRD44) c.2666-71G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 197863777 . C . . NT END=197865142;NT GT ./. 2 197863851 rs4850742 C T 165 nt VT=SNV;PN=G;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.2520-75G>A;VC=Intron;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:11:0:0:47:1425:164.76:30.80:133.96:1.00:1.00:1.00:60:40.1:0:0:106:44:23:NM_001195144.1(ANKRD44) c.2520-75G>A,NM_001195144.1(ANKRD44) c.2520-75G>A:0.92,0.92:NOT_FOUND,NOT_FOUND 2 197864996 rs6434897 A C 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.2519+147T>G;VC=Intron;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:375:42.75:42.75:0.00:1.00:1.00:0.00:60:35.2:0:0:59:92:48:NM_001195144.1(ANKRD44) c.2519+147T>G,NM_001195144.1(ANKRD44) c.2519+147T>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 197865227 . C . . NT END=197866476;NT GT ./. 2 197866470 rs12478175 T A 92 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ANKRD44/NM_001195144.1/1;CC=c.2435+7A>T;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:A:24:19:0:0:24:802:91.65:51.24:40.41:1.00:1.00:1.00:60:35.7:0:0:59:91:14:NM_001195144.1(ANKRD44) c.2435+7A>T,NM_001195144.1(ANKRD44) c.2435+7A>T:0.77,0.77:0.715285,0.715285 2 197866565 . C . . NT END=197870417;NT GT ./. 2 197870635 . C . . NT END=197872529;NT GT ./. 2 197870808 rs2376211 A G 57 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.2131-174T>C;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:0:0:0:15:501:57.21:0.00:57.21:1.00:0.00:1.00:60:47.7:0:0:117:34:25:NM_001195144.1(ANKRD44) c.2131-174T>C,NM_001195144.1(ANKRD44) c.2131-174T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 197872648 . C . . NT END=197873667;NT GT ./. 2 197872727 rs57048274 T TTCTC 60 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3012;PC=0.459;Gene=ANKRD44/NM_001195144.1/1;CC=c.2013-84_2013-81dupGAGA;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TTCTC:19:5:17:0:2,17:66,545:0.00,59.83:0.00,10.25:0.00,49.58:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,4.5:0,0:0,0:139,87:5,64:0,30:-,NM_001195144.1(ANKRD44) c.2013-81_2013-80insGAGA:-,0.92:-,NOT_FOUND 2 197873563 rs7565685 T C 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.2012+105A>G;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C,T:20:20:0:0:19,1:606,12:68.07,0.00:68.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.3,0.0:0,0:0,0:45,113:106,38:28,0:NM_001195144.1(ANKRD44) c.2012+105A>G,NM_001195144.1(ANKRD44) c.2012+105A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 197873756 . C . . NT END=197878234;NT GT ./. 2 197878437 . C . . NT END=197889919;NT GT ./. 2 197878584 rs7584406 T A 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD44/NM_001195144.1/1;CC=c.1723-148A>T;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_4;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:0:0:0:14:396:46.26:0.00:46.26:1.00:0.00:1.00:60:56.5:0:0:86:52:29:NM_001195144.1(ANKRD44) c.1723-148A>T,NM_001195144.1(ANKRD44) c.1723-148A>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 197889992 . C . . NT END=197943426;NT GT ./. 2 197943539 . C . . NT END=197946368;NT GT ./. 2 197946450 . C . . NT END=197948092;NT GT ./. 2 197947823 rs930372 A C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.1457+270T>G;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:35.7:0:0:52:97:24:NM_001195144.1(ANKRD44) c.1457+270T>G,NM_001195144.1(ANKRD44) c.1457+270T>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 197948234 . C . . NT END=197951403;NT GT ./. 2 197951473 . C . . NT END=197953434;NT GT ./. 2 197951615 rs893402 C T 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.1248-143G>A;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:346:39.84:0.00:39.84:1.00:0.00:1.00:60:34.3:0:0:109:42:23:NM_001195144.1(ANKRD44) c.1248-143G>A,NM_001195144.1(ANKRD44) c.1248-143G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 197953372 rs368814029 TAAGTC T 50 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3289;PC=0.001;Gene=ANKRD44/NM_001195144.1/1;CC=c.1247+58_1247+62delGACTT;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:13:0:14:14:437:50.37:46.26:4.11:1.00:1.00:1.00:60:2.4:0:0:35:114:23:NM_001195144.1(ANKRD44) c.1247+58_1247+62delGACTT,NM_001195144.1(ANKRD44) c.1247+58_1247+62delGACTT:0.85,0.85:0.808654,0.808654 2 197953553 . C . . NT END=197954673;NT GT ./. 2 197954757 . C . . NT END=197964194;NT GT ./. 2 197954780 rs4300850 A G 119 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.1101-24T>C;VC=Intron;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:17:0:0:32:1037:118.85:47.57:71.27:1.00:1.00:1.00:60:50.2:0:0:111:34:25:NM_001195144.1(ANKRD44) c.1101-24T>C,NM_001195144.1(ANKRD44) c.1101-24T>C:0.93,0.93:0.907889,0.907889 2 197964655 . C . . NT END=197975489;NT GT ./. 2 197975569 . C . . NT END=197986055;NT GT ./. 2 197986048 rs2697270 T C 158 nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.906+8A>G;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.906+8A>G;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C:42:36:0:0:42:1378:157.74:122.22:35.51:1.00:1.00:1.00:60:43.5:0:0:43:105:23:NM_001195144.1(ANKRD44) c.906+8A>G,NM_001195144.1(ANKRD44) c.906+8A>G:0.92,0.92:0.913271,0.913271 2 197986269 . C . . NT END=197987373;NT GT ./. 2 197987517 . C . . NT END=197990104;NT GT ./. 2 197989945 rs2579395 T C 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.550+160A>G;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.550+160A>G;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:264:30.21:30.21:0.00:1.00:1.00:0.00:60:41.0:0:0:59:90:29:NM_001195144.1(ANKRD44) c.550+160A>G,NM_001195144.1(ANKRD44) c.550+160A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 197990193 . C . . NT END=197990560;NT GT ./. 2 197990509 rs2579394 G A 207 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.104;Gene=ANKRD44/NM_001195144.1/1;CC=c.462+52C>T;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.462+52C>T;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:A:56:53:0:0:56:1800:206.62:167.00:39.62:1.00:1.00:1.00:60:37.1:0:0:42:108:23:NM_001195144.1(ANKRD44) c.462+52C>T,NM_001195144.1(ANKRD44) c.462+52C>T:0.72,0.72:0.652424,0.652424 2 197990762 . C . . NT END=198001315;NT GT ./. 2 197990909 rs2918628 G A 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.262-148C>T;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.262-148C>T;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_5;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A,C:20:0:0:0:19,1:520,10:60.43,0.36:0.00,0.00:60.43,0.36:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.7,91.0:0,0:0,0:108,84:43,67:27,0:NM_001195144.1(ANKRD44) c.262-148C>T,NM_001195144.1(ANKRD44) c.262-148C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 2 198001387 . C . . NT END=198011750;NT GT ./. 2 198001443 rs2579387 C T 143 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.191-57G>A;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.191-57G>A;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_5;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:14:0:0:38:1251:143.19:29.43:113.77:1.00:1.00:1.00:60:37.4:0:0:94:55:32:NM_001195144.1(ANKRD44) c.191-57G>A,NM_001195144.1(ANKRD44) c.191-57G>A:0.81,0.81:0.791502,0.791502 2 198004572 rs71012957 TTGTGTG T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.413;Gene=ANKRD44/NM_001195144.1/1;CC=c.191-3192_191-3187delCACACA;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.191-3192_191-3187delCACACA;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_5;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TTGTGTG,T:3:3:0:3:1,2:34,98:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.89:0.00,0.67:60,60:0.0,27.5:0,1:0,0:117,18:34,133:0,1:-,NM_001195144.1(ANKRD44) c.191-3192_191-3187delCACACA:-,NOT_FOUND:-,NOT_FOUND 2 198004729 rs2697261 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKRD44/NM_001195144.1/1;CC=c.191-3343T>C;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.191-3343T>C;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_5;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:110:12.85:0.00:12.85:1.00:0.00:1.00:60:35.2:0:0:112:38:35:NM_001195144.1(ANKRD44) c.191-3343T>C,NM_001195144.1(ANKRD44) c.191-3343T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 198011830 . C . . NT END=198051746;NT GT ./. 2 198011904 rs2249470 G A 117 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=ANKRD44/NM_001195144.1/1;CC=c.112-75C>T;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.112-75C>T;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:10:0:0:32:1019:117.05:29.18:87.87:1.00:1.00:1.00:60:34.4:0:0:112:37:32:NM_001195144.1(ANKRD44) c.112-75C>T,NM_001195144.1(ANKRD44) c.112-75C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 198051831 . C . . NT END=198175301;NT GT ./. 2 198081584 rs2697298 C T 14 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.009;Gene=ANKRD44/NM_001195144.1/1;CC=c.28-29754G>A;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.28-29754G>A;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:125:14.41:12.47:1.94:1.00:1.00:1.00:70:39.2:0:0:73:63:19:NM_001195144.1(ANKRD44) c.28-29754G>A,NM_001195144.1(ANKRD44) c.28-29754G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 2 198081593 rs79015265 A AACACACACAC 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=113;NP=3;PC=0.010;Gene=ANKRD44/NM_001195144.1/1;CC=c.28-29764_28-29763insGTGTGTGTGT;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.28-29764_28-29763insGTGTGTGTGT;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_4;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AACACACACAC:5:5:3:0:2,3:67,101:0.00,10.07:0.00,8.24:0.00,1.83:0.00,0.78:0.00,0.78:0.00,0.73:60,70:100.5,41.0:0,0:0,0:49,77:69,74:38,38:-,NM_001195144.1(ANKRD44) c.28-29764_28-29763insGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 198081670 rs7562272 G A,T 16 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:24:A,T:6:2:0:0:1,5:33,139:3.00,15.86:1.50,0.73:1.50,15.12:0.00,0.99:0.00,0.98:0.00,0.99:60,60:33.0,80.0:1,0:0,0:96,88:36,29:0,23:NM_001195144.1(ANKRD44) c.28-29840C>T,NM_001195144.1(ANKRD44) c.28-29840C>A:NOT_FOUND,0.08:NOT_FOUND,NOT_FOUND 2 198175179 rs112572902 G C 112 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ANKRD44/NM_001195144.1/1;CC=c.27+123C>G;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.27+123C>G;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:30:0:0:30:979:112.18:108.40:3.78:1.00:1.00:1.00:60:64.9:0:0:34:114:25:NM_001195144.1(ANKRD44) c.27+123C>G,NM_001195144.1(ANKRD44) c.27+123C>G:0.45,0.45:NOT_FOUND,NOT_FOUND 2 198175297 rs10931780 G C 345 nt VT=SNV;PN=C;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=0.049;Gene=ANKRD44/NM_001195144.1/1;CC=c.27+5C>G;VC=Intron;Gene=ANKRD44/NM_153697.2/0;CC=c.27+5C>G;VC=Intron;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_2;DM=ANKRD44/Ank_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:81:0:0:95:3002:345.32:209.77:135.55:1.00:1.00:1.00:60:47.9:0:0:49:92:26:NM_001195144.1(ANKRD44) c.27+5C>G,NM_001195144.1(ANKRD44) c.27+5C>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 198175339 . C . . NT END=198257070;NT GT ./. 2 198208420 rs12693816 T A 6 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,T:4:3:0:0:2,2:67,61:6.45,0.00:3.38,0.00:3.07,0.00:0.51,0.00:0.89,0.00:0.51,0.00:60,60:51.0,6.5:0,0:0,0:63,42:49,91:13,11:chr2 g.198208419T>A (intergenic),-:0.38,-:NOT_FOUND,- 2 198229856 rs788012 A T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,T:4:1:0:0:1,3:32,99:0.00,10.35:0.00,1.88:0.00,8.48:0.00,0.85:0.00,0.83:0.00,0.85:60,60:0.0,49.0:0,0:0,0:78,116:73,35:0,26:-,chr2 g.198229855A>T (intergenic):-,0.61:-,NOT_FOUND 2 198257186 . C . . NT END=198257695;NT GT ./. 2 198257652 rs77630471 T TA 21 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1387;NP=3;PC=0.104;Gene=SF3B1/NM_012433.3/1;CC=c.3756+43_3756+44insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,T,TA:13:13:8:0:1,5,7:10,164,246:0.29,0.00,21.03:-0.16,0.00,21.03:0.45,0.00,0.00:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.67:60,60,70:10.0,0.0,32.4:0,0,1:0,0,0:28,49,60:101,102,90:0,36,28:-,NM_012433.2(SF3B1) c.3756+43_3756+44insT:-,NOT_FOUND:-,NOT_FOUND 2 198257795 rs4685 T C 65 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.983;Gene=SF3B1/NM_012433.3/1;CC=c.3657A>G;ProtCh=p.V1219=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:34:0:0:20,25:684,781:64.53,0.00:42.14,0.00:22.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.0,14.5:0,0:0,0:57,72:86,74:25,42:NM_012433.2(SF3B1) c.3657A>G (p.(=)),-:0.71,-:0.735968,- 2 198257913 . C . . NT END=198260779;NT GT ./. 2 198261053 . C . . NT END=198262708;NT GT ./. 2 198262841 . C . . NT END=198263184;NT GT ./. 2 198263306 . C . . NT END=198263692;NT GT ./. 2 198263763 . C . . NT END=198264778;NT GT ./. 2 198264715 . G GA 10 rn VT=INS;SST=Single;DP=20;PC=0.019;Gene=SF3B1/NM_012433.3/1;CC=c.3013+63dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:G,GA:20:19:4:0:16,4:460,127:0.00,10.28:0.00,10.47:0.00,-0.19:0.00,0.71:0.00,0.96:0.00,0.53:60,60:17.1,3.0:0,0:0,0:47,85:103,64:35,29:-,NM_012433.2(SF3B1) c.3013+63_3013+64insT:-,NOT_FOUND:-,NOT_FOUND 2 198264891 . C . . NT END=198264975;NT GT ./. 2 198265159 . C . . NT END=198265438;NT GT ./. 2 198265173 rs788017 T A 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=SF3B1/NM_012433.3/1;CC=c.2719-15A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:50:23:0:0:22,1,27:669,12,846:62.73,0.04,0.00:12.85,0.20,0.00:49.87,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:54.1,113.0,10.3:0,0,0:0,0,0:116,128,106:31,19,23:19,0,28:NM_012433.2(SF3B1) c.2719-15A>T,-:0.64,-:NOT_FOUND,- 2 198265350 rs12621129 T C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=SF3B1/NM_012433.3/1;CC=c.2718+89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:13:0:0:10,12:339,377:32.09,0.00:19.07,0.00:13.02,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.2,14.0:0,0:0,0:62,89:88,52:37,29:NM_012433.2(SF3B1) c.2718+89A>G,-:0.27,-:NOT_FOUND,- 2 198265526 rs788018 A G 60 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.999;Gene=SF3B1/NM_012433.3/1;CC=c.2631T>C;ProtCh=p.G877=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:26:0:0:20,19:642,630:0.00,60.31:0.00,28.95:0.00,31.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.7,37.4:0,0:0,0:88,85:55,61:28,41:-,NM_012433.2(SF3B1) c.2631T>C (p.(=)):-,0.71:-,0.735082 2 198265661 . C . . NT END=198266123;NT GT ./. 2 198266250 . C . . NT END=198266465;NT GT ./. 2 198266613 . C . . NT END=198266708;NT GT ./. 2 198266855 . C . . NT END=198267279;NT GT ./. 2 198266943 rs788019 C T 170 nt VT=SNV;PN=T;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=3382;PC=0.001;Gene=SF3B1/NM_012433.3/1;CC=c.2078-89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:T:49:13:0:0:49:1467:169.91:31.15:138.76:1.00:1.00:1.00:60:37.1:0:0:115:36:29:NM_012433.2(SF3B1) c.2078-89G>A,NM_012433.2(SF3B1) c.2078-89G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 198267243 rs200694304 G GA 10 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=3;PC=0.162;Gene=SF3B1/NM_012433.3/1;CC=c.2077+36_2077+37insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G,GA,D:21:15:4:1:3,13,4,1:28,407,126,34:0.98,0.00,10.44,2.28:-0.60,0.00,6.27,1.09:1.58,0.00,4.17,1.19:0.00,0.00,0.70,0.00:0.00,0.00,0.92,0.00:0.00,0.00,0.87,0.00:60,60,60,60:60.7,19.2,2.5,0.0:0,0,0,0:0,0,0,0:65,53,67,84:86,93,81,65:24,27,12,0:-,NM_012433.2(SF3B1) c.2077+36_2077+37insT:-,NOT_FOUND:-,NOT_FOUND 2 198267551 . C . . NT END=198267672;NT GT ./. 2 198267760 . C . . NT END=198268308;NT GT ./. 2 198267770 rs80128856 G GAA 49 nt VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2887;PC=0.001;Gene=SF3B1/NM_012433.3/1;CC=c.1720-13_1720-12dupTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GAA:38:15:17:0:1,20,17:18,611,524:0.54,0.00,49.43:-0.09,0.00,9.78:0.62,0.00,39.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:107.0,5.8,15.1:2,1,0:0,0,0:66,106,108:85,44,42:0,27,22:-,NM_012433.2(SF3B1) c.1720-12_1720-11insTT:-,0.71:-,0.735501 2 198268489 . C . . NT END=198269799;NT GT ./. 2 198269902 . C . . NT END=198269998;NT GT ./. 2 198270197 . C . . NT END=198272721;NT GT ./. 2 198272844 . C . . NT END=198273092;NT GT ./. 2 198273306 . C . . NT END=198274493;NT GT ./. 2 198274732 . C . . NT END=198281464;NT GT ./. 2 198274929 rs12151767 G A 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SF3B1/NM_012433.3/1;CC=c.667-198C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:10:1:0:0:7,3:229,96:23.59,0.00:-0.52,0.00:24.11,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:39.3,8.3:0,0:0,0:101,58:49,93:39,15:NM_012433.2(SF3B1) c.667-198C>T,-:0.42,-:NOT_FOUND,- 2 198281636 . C . . NT END=198283232;NT GT ./. 2 198281743 rs699318 T C 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SF3B1/NM_012433.3/1;CC=c.496-108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:6:0:0:19,25:645,821:60.50,0.00:3.00,0.00:57.50,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:57.1,4.4:0,0:0,0:105,127:45,23:22,16:NM_012433.2(SF3B1) c.496-108A>G,-:0.71,-:NOT_FOUND,- 2 198281776 rs699319 C A 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=SF3B1/NM_012433.3/1;CC=c.496-141G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:0:0:0:13,16:428,448:40.37,0.00:0.00,0.00:40.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:65.3,6.4:0,0:0,0:119,122:31,28:26,20:NM_012433.2(SF3B1) c.496-141G>T,-:0.71,-:NOT_FOUND,- 2 198283305 rs788023 T C 61 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SF3B1/NM_012433.3/1;CC=c.423A>G;ProtCh=p.K141=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:47:0:0:21,39:675,1137:60.65,0.00:36.98,0.00:23.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,8.3:0,0:0,0:70,60:52,89:33,26:NM_012433.2(SF3B1) c.423A>G (p.(=)),-:0.71,-:0.739351,- 2 198283676 . C . . NT END=198285151;NT GT ./. 2 198285267 . C . . NT END=198285752;NT GT ./. 2 198285858 . C . . NT END=198288531;NT GT ./. 2 198288699 . C . . NT END=198299695;NT GT ./. 2 198288826 rs3849361 T C 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=SF3B1/NM_012433.3/1;CC=c.29-128A>G;VC=Intron;Gene=SF3B1/NM_001005526.2/0;CC=c.29-128A>G;VC=Intron;Gene=SF3B1/NM_001308824.1/0;CC=c.29-128A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:0:0:0:12,11:396,331:38.40,0.00:0.00,0.00:38.40,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.8,12.0:0,0:0,0:87,123:63,27:40,8:NM_001005526.1(SF3B1) c.29-128A>G,-:0.03,-:NOT_FOUND,- 2 198299768 . T . . NT END=198318284;NT GT ./. 2 198304933 rs62281264 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,G,I:6:5:1:0:2,3,1:68,106,34:0.00,10.53,2.94:0.00,5.36,1.47:0.00,5.16,1.47:0.00,0.73,0.00:0.00,0.96,0.00:0.00,0.96,0.00:60,60,60:17.0,35.3,12.0:0,0,0:0,0,0:73,85,31:66,34,88:68,12,0:-,NM_001005526.1(SF3B1) c.-48-u5162T>C:-,0.29:-,NOT_FOUND 2 198318389 . G . . NT END=198324655;NT GT ./. 2 198324806 . G . . NT END=198327262;NT GT ./. 2 198324990 rs787990 A G 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.006;Gene=COQ10B/NM_025147.3/1;CC=c.254+185A>G;VC=Intron;DM=COQ10B/Polyketide_cyc;DM=COQ10B/Polyketide_cyc;DM=COQ10B/Polyketide_cyc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,G:12:0:0:0:1,11:34,373:0.00,41.05:0.00,0.00:0.00,41.05:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,43.4:0,0:0,0:60,93:89,58:0,9:-,NM_025147.3(COQ10B) c.254+185A>G:-,0.4:-,NOT_FOUND 2 198327456 . G . . NT END=198334793;NT GT ./. 2 198334896 . G . . NT END=198338480;NT GT ./. 2 198338419 . CA C 17 idl,rn VT=DEL;SST=Single;DP=25;NP=7;Gene=COQ10B/NM_025147.3/1;CC=c.550-47delA;VC=Intron;DM=COQ10B/Polyketide_cyc;DM=COQ10B/Polyketide_cyc;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:CA,I,C:23:24:2:8:15,2,6:470,64,260:0.00,4.62,16.76:0.00,4.66,13.67:0.00,-0.04,3.09:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.60:60,60,60:31.7,27.5,8.3:0,0,2:0,0,0:50,69,52:101,82,99:39,34,35:-,NM_025147.3(COQ10B) c.550-61delA:-,NOT_FOUND:-,NOT_FOUND 2 198338649 . A . . NT END=198351769;NT GT ./. 2 198351923 . C . . NT END=198352581;NT GT ./. 2 198352761 . C . . NT END=198353040;NT GT ./. 2 198353216 . C . . NT END=198353725;NT GT ./. 2 198353972 . C . . NT END=198354920;NT GT ./. 2 198355021 . C . . NT END=198358047;NT GT ./. 2 198355135 rs148517124 T TTG 16 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=1413;PC=0.899;Gene=HSPD1/NM_002156.4/0;CC=c.870-117_870-116dupCA;VC=Intron;Gene=HSPD1/NM_199440.1/1;CC=c.870-117_870-116dupCA;VC=Intron;DM=HSPD1/Cpn60_TCP1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:T,TTG:19:0:6:0:13,6:404,184:0.00,16.12:0.00,0.00:0.00,16.12:0.00,0.94:0.00,0.00:0.00,0.94:60,70:27.2,16.5:0,0:0,0:112,110:37,35:29,11:-,NM_199440.1(HSPD1) c.870-116_870-115insCA:-,NOT_FOUND:-,NOT_FOUND 2 198358217 . C . . NT END=198358880;NT GT ./. 2 198358975 . C . . NT END=198359380;NT GT ./. 2 198359267 rs34314224 A ACT 26 sb,nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1802;Gene=HSPD1/NM_002156.4/0;CC=c.606+113_606+114insAG;VC=Intron;Gene=HSPD1/NM_199440.1/1;CC=c.606+113_606+114insAG;VC=Intron;DM=HSPD1/Cpn60_TCP1;DM=HSPD1/Cpn60_TCP1;DM=HSPD1/Cpn60_TCP1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,ACT:13:10:8:0:5,8:150,255:0.00,25.57:0.00,23.73:0.00,1.83:0.00,1.00:0.00,1.00:0.00,0.95:60,60:7.2,19.8:0,0:0,0:42,70:108,81:26,41:-,NM_199440.1(HSPD1) c.606+113_606+114insAG:-,0.69:-,NOT_FOUND 2 198359477 . C . . NT END=198360017;NT GT ./. 2 198360101 . C . . NT END=198361863;NT GT ./. 2 198362018 rs8539 T C 85 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=in-clinvar;PAF=NA;PC=1.000;Gene=HSPD1/NM_002156.4/0;CC=c.273A>G;ProtCh=p.K91=;VC=Silent;Gene=HSPD1/NM_199440.1/1;CC=c.273A>G;ProtCh=p.K91=;VC=Silent;DM=HSPD1/Cpn60_TCP1;DM=HSPD1/Cpn60_TCP1;DM=HSPD1/Cpn60_TCP1;DM=HSPD1/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:23:0:0:27,29:890,920:85.03,0.00:32.61,0.00:52.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,6.6:0,0:0,0:62,100:83,40:35,43:NM_199440.1(HSPD1) c.273A>G (p.(=)),-:0.66,-:0.695371,- 2 198362117 . C . . NT END=198363398;NT GT ./. 2 198363573 . T . . NT END=198365160;NT GT ./. 2 198365043 rs1116734 C G 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=HSPE1/NM_002157.2/1;CC=c.-118C>G;VC=5UTR;Gene=HSPE1-MOB4/NM_001202485.1/1;CC=c.-118C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:52:48:0:0:22,30:695,940:0.00,92.92:0.00,62.52:0.00,30.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,38.4:0,0:0,0:34,30:116,119:28,17:-,NM_001202485.1(HSPE1-MOB4) c.-118C>G:-,0.67:-,NOT_FOUND 2 198365164 . G . . NT END=198365797;NT GT ./. 2 198365963 . G . . NT END=198367762;NT GT ./. 2 198367853 . G . . NT END=198367932;NT GT ./. 2 198367984 . A . . NT END=198380810;NT GT ./. 2 198380871 . G . . NT END=198381021;NT GT ./. 2 198381080 . G . . NT END=198388347;NT GT ./. 2 198388411 . G . . NT END=198400253;NT GT ./. 2 198400355 . G . . NT END=198404834;NT GT ./. 2 198404878 . G . . NT END=198405074;NT GT ./. 2 198404929 rs13030448 C G 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=144;PC=0.008;Gene=HSPE1-MOB4/NM_001202485.1/1;CC=c.375+52C>G;VC=Intron;Gene=MOB4/NM_199482.3/0;CC=c.171+52C>G;VC=Intron;Gene=MOB4/NM_001100819.2/0;CC=c.204+52C>G;VC=Intron;Gene=MOB4/NM_015387.4/1;CC=c.267+52C>G;VC=Intron;Gene=MOB4/NM_001204094.1/0;CC=c.171+52C>G;VC=Intron;DM=HSPE1-MOB4/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:55:25:0:0:24,31:748,942:0.00,92.57:0.00,33.70:0.00,58.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,41.4:0,0:0,0:108,90:42,59:27,30:-,NM_001202485.1(HSPE1-MOB4) c.375+52C>G:-,0.01:-,0.017986 2 198405162 . G . . NT END=198413059;NT GT ./. 2 198413140 . G . . NT END=198414998;NT GT ./. 2 198414713 rs1563340 A T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HSPE1-MOB4/NM_001202485.1/1;CC=c.543-286A>T;VC=Intron;Gene=MOB4/NM_199482.3/0;CC=c.339-286A>T;VC=Intron;Gene=MOB4/NM_001100819.2/0;CC=c.372-286A>T;VC=Intron;Gene=MOB4/NM_015387.4/1;CC=c.435-286A>T;VC=Intron;Gene=MOB4/NM_001204094.1/0;CC=c.339-286A>T;VC=Intron;DM=HSPE1-MOB4/Mob1_phocein GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,T:5:5:0:0:2,3:64,99:0.00,9.87:0.00,9.87:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,81.7:0,0:0,0:43,31:105,119:1,13:-,NM_001202485.1(HSPE1-MOB4) c.543-286A>T:-,0.69:-,NOT_FOUND 2 198415111 . G . . NT END=198415238;NT GT ./. 2 198415371 . A . . NT END=198436731;NT GT ./. 2 198437005 . C . . NT END=198460714;NT GT ./. 2 198460794 . C . . NT END=198480599;NT GT ./. 2 198480704 . C . . NT END=198482523;NT GT ./. 2 198482646 . C . . NT END=198495734;NT GT ./. 2 198495945 . C . . NT END=198498441;NT GT ./. 2 198498316 rs1979239 T G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=RFTN2/NM_144629.2/1;CC=c.718+126A>C;VC=Intron;DM=RFTN2/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:21:0:0:7,14:210,420:18.54,0.00:18.54,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:42.1,19.2:0,0:0,0:61,48:90,102:28,38:NM_144629.2(RFTN2) c.718+126A>C,-:0.68,-:NOT_FOUND,- 2 198498722 . C . . NT END=198508881;NT GT ./. 2 198508951 rs10497806 G A 62 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.956;Gene=RFTN2/NM_144629.2/1;CC=c.369C>T;ProtCh=p.L123=;VC=Silent;DM=RFTN2/Raftlin;DM=RFTN2/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:45:0:0:20,37:685,1222:62.04,0.00:41.69,0.00:20.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,1.1:0,0:0,0:69,65:66,76:20,25:NM_144629.2(RFTN2) c.369C>T (p.(=)),-:0.68,-:0.739428,- 2 198508997 . C . . NT END=198511206;NT GT ./. 2 198511086 rs16866970 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=RFTN2/NM_144629.2/1;CC=c.323+121C>T;VC=Intron;DM=RFTN2/Raftlin;DM=RFTN2/Raftlin;DM=RFTN2/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:7,10:226,318:20.95,0.00:20.95,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:41.6,27.9:0,0:0,0:31,63:119,76:22,32:NM_144629.2(RFTN2) c.323+121C>T,-:0.45,-:NOT_FOUND,- 2 198511391 . C . . NT END=198540043;NT GT ./. 2 198540183 . G . . NT END=198570129;NT GT ./. 2 198571912 . A . . NT END=198593190;NT GT ./. 2 198572076 rs397755197 A ATTC 13 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=226;Gene=MARS2/NM_138395.3/1;CC=c.*166_*168dupTTC;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,ATTC:8:0:5:0:4,4:109,151:0.00,12.70:0.00,0.00:0.00,12.70:0.00,0.85:0.00,0.00:0.00,0.85:60,60:39.8,10.5:0,1:0,0:93,94:57,57:16,7:-,NM_138395.3(MARS2) c.*166_*168dupTTC:-,0.54:-,NOT_FOUND 2 198593303 . C . . NT END=198607784;NT GT ./. 2 198593459 rs5837554 AT A 8 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1155;PC=0.001;Gene=BOLL/NM_001284361.1/1;CC=c.913-162delA;VC=Intron;Gene=BOLL/NM_001284362.1/0;CC=c.847-158delA;VC=Intron;Gene=BOLL/NM_033030.5/0;CC=c.829-158delA;VC=Intron;Gene=BOLL/NM_197970.2/0;CC=c.865-158delA;VC=Intron;Gene=BOLL/NM_001284358.1/0;CC=c.502-158delA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:AT,A:7:0:0:3:4,3:132,89:0.00,8.25:0.00,0.00:0.00,8.25:0.00,0.69:0.00,0.00:0.00,0.69:60,60:5.2,3.7:0,0:0,0:95,139:55,12:14,4:-,NM_197970.2(BOLL) c.865-158delA:-,0.7:-,NOT_FOUND 2 198607884 . C . . NT END=198621151;NT GT ./. 2 198621281 . C . . NT END=198622076;NT GT ./. 2 198622125 . C . . NT END=198623665;NT GT ./. 2 198623732 . C . . NT END=198631255;NT GT ./. 2 198631328 . C . . NT END=198636578;NT GT ./. 2 198636707 . C . . NT END=198640388;NT GT ./. 2 198640465 . C . . NT END=198641782;NT GT ./. 2 198641838 . C . . NT END=198643698;NT GT ./. 2 198643631 rs700655 G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=BOLL/NM_001284361.1/1;CC=c.239+68C>T;VC=Intron;Gene=BOLL/NM_001284362.1/0;CC=c.239+68C>T;VC=Intron;Gene=BOLL/NM_033030.5/0;CC=c.221+68C>T;VC=Intron;Gene=BOLL/NM_197970.2/0;CC=c.257+68C>T;VC=Intron;Gene=BOLL/NM_001284358.1/0;CC=c.25+68C>T;VC=Intron;DM=BOLL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:A,G:18:15:0:0:13,5:383,162:39.85,0.00:28.96,0.00:10.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.6,8.8:0,0:0,0:91,73:60,77:37,10:NM_197970.2(BOLL) c.257+68C>T,-:0.4,-:NOT_FOUND,- 2 198643791 . C . . NT END=198646445;NT GT ./. 2 198646590 . C . . NT END=198649352;NT GT ./. 2 198649735 . A . . NT END=198649779;NT GT ./. 2 198650075 . G . . NT END=198650706;NT GT ./. 2 198650259 rs771018 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=BOLL/NM_197970.2/0;CC=c.21+448C>T;VC=Intron;Gene=BOLL/NM_001284358.1/0;CC=c.-212+448C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:A,G:16:0:0:0:5,11:176,318:15.68,0.00:0.00,0.00:15.68,0.00:0.88,0.00:0.00,0.00:0.88,0.00:60,60:58.8,22.5:0,0:0,0:52,105:98,46:43,36:NM_197970.2(BOLL) c.21+448C>T,-:0.46,-:NOT_FOUND,- 2 198650826 . G . . NT END=198669823;NT GT ./. 2 198669754 rs770659 G C 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=PLCL1/NM_006226.3/1;CC=c.-70G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:69:59:0:0:30,39:871,1114:80.87,0.00:56.40,0.00:24.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,13.7:0,0:0,0:58,32:91,118:33,21:NM_006226.3(PLCL1) c.-70G>C,-:0.7,-:NOT_FOUND,- 2 198669871 rs770658 G C 204 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=NA;Gene=PLCL1/NM_006226.3/1;CC=c.48G>C;ProtCh=p.A16=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:144:120:0:0:1,71,72:13,2133,2224:-0.08,203.98,0.00:-0.14,154.59,0.00:0.06,49.39,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.0,47.8,8.6:0,0,0:0,0,0:10,72,57:141,78,90:0,34,26:NM_006226.3(PLCL1) c.48G>C (p.(=)),-:0.44,-:NOT_FOUND,- 2 198670064 . G . . NT END=198674981;NT GT ./. 2 198675047 . G . . NT END=198935747;NT GT ./. 2 198911889 rs60255090 ATG A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;Gene=PLCL1/NM_006226.3/1;CC=c.241-36565_241-36564delGT;VC=Intron;DM=PLCL1/PH_12;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:ATG,A:4:3:0:2:2,2:68,67:0.00,6.45:0.00,1.44:0.00,5.01:0.00,0.51:0.00,0.89:0.00,0.51:60,60:0.0,0.0:0,0:0,0:49,61:69,66:13,12:-,NM_006226.3(PLCL1) c.241-36592_241-36591delTG:-,NOT_FOUND:-,NOT_FOUND 2 198935760 . G . . NT END=198948481;NT GT ./. 2 198935822 rs201357044 GCA G 18 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=23;PC=0.002;Gene=PLCL1/NM_006226.3/1;CC=c.241-12621_241-12620delCA;VC=Intron;DM=PLCL1/PH_12;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,GCA,G:12:11:0:10:1,5,6:31,175,284:2.25,0.00,17.77:2.33,0.00,9.33:-0.08,0.00,8.43:0.00,0.00,0.96:0.00,0.00,0.99:0.00,0.00,0.98:60,60,60:31.0,36.0,48.8:0,0,3:0,0,0:119,130,72:32,20,78:0,9,11:-,NM_006226.3(PLCL1) c.241-12659_241-12658delCA:-,NOT_FOUND:-,NOT_FOUND 2 198950240 rs1064213 G A 106 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PLCL1/NM_006226.3/1;CC=c.1999G>A;ProtCh=p.V667I;VC=Missense;DM=PLCL1/PI-PLC-Y;DM=PLCL1/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:103:72:0:0:37,1,65:1175,10,2164:106.11,-0.18,0.00:47.59,-0.16,0.00:58.52,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,24,60:39.5,168.0,3.5:0,0,0:0,0,0:77,65,68:68,48,82:25,0,26:NM_006226.3(PLCL1) c.1999G>A (p.Val667Ile),-:0.36,-:0.427088,- 2 198950957 . G . . NT END=198953581;NT GT ./. 2 198953786 . G . . NT END=198966008;NT GT ./. 2 198966085 . G . . NT END=198968550;NT GT ./. 2 198968661 . G . . NT END=199011503;NT GT ./. 2 198970325 rs72103336 GGT G,GGTGTGT 10 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=38 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:64:GGTGTGT,G:5:5:3:2:3,2:94,66:10.16,6.76:8.59,5.02:1.58,1.74:0.78,0.00:0.78,0.00:0.87,0.00:60,60:19.7,0.0:0,0:0,0:69,26:82,96:17,19:NM_006226.3(PLCL1) c.3105+1666_3105+1667delGT,NM_006226.3(PLCL1) c.3105+1666GT[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 199011687 . C . . NT END=200136933;NT GT ./. 2 199046834 rs1836235 C G 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,G:12:0:0:0:5,7:144,221:0.00,21.87:0.00,0.00:0.00,21.87:0.00,0.99:0.00,0.00:0.00,0.99:60,60:1.8,51.7:0,0:0,0:52,103:98,48:3,38:-,chr2 g.199046833C>G (intergenic):-,0.39:-,NOT_FOUND 2 199089682 rs989389 T C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=20;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:1:0:0:3,1:83,33:8.73,0.00:1.98,0.00:6.75,0.00:0.85,0.00:0.83,0.00:0.85,0.00:60,60:46.0,0.0:0,0:0,0:37,111:93,40:18,0:chr2 g.199089681T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 199181722 rs2529667 T A 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.002;Gene=LOC101927619/NR_110267.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,T:6:2:0:0:5,1:177,34:18.91,0.00:4.00,0.00:14.91,0.00:0.99,0.00:0.98,0.00:0.99,0.00:60,60:48.0,0.0:0,0:0,0:55,135:73,16:25,0:chr2 g.199181721T>A (intergenic),-:0.52,-:NOT_FOUND,- 2 199345395 rs202221747 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:3:0:0:2,2:70,66:0.00,6.35:0.00,1.34:0.00,5.01:0.00,0.51:0.00,0.89:0.00,0.89:60,60:45.5,106.5:0,0:0,0:47,66:103,77:0,31:-,chr2 g.199345394C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 199345397 rs77351844 T C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=4;NP=594;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T,I:5:4:1:0:2,2,1:69,58,33:6.62,0.00,2.88:1.41,0.00,1.39:5.21,0.00,1.49:0.46,0.00,0.00:0.87,0.00,0.00:0.87,0.00,0.00:60,60,60:106.0,45.5,62.0:0,0,0:0,0,0:68,49,17:75,101,134:31,0,0:chr2 g.199345396T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 199345409 rs5029129 G C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:170:19.38:9.64:9.74:1.00:1.00:1.00:60:73.0:0:0:61:89:12:chr2 g.199345408G>C (intergenic),chr2 g.199345408G>C (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 2 199529880 rs71843179 AGT A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=165;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:AGT,G,A:4:4:0:2:1,1,2:34,9,67:0.00,0.65,6.75:0.00,0.71,5.11:0.00,-0.06,1.64:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.79:60,60,60:0.0,127.0,6.5:0,1,0:0,0,0:66,28,25:34,117,125:0,0,7:-,chr2 g.199529881_199529882delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 199539895 rs5837634 CGT C 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=281;PC=0.004;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CGT,C:3:3:0:3:1,2:27,80:0.00,6.65:0.00,6.80:0.00,-0.15:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,59.5:0,1:0,0:36,31:104,119:0,22:-,chr2 g.199539896_199539897delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 199632866 rs10188656 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=493;PC=0.149 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:164:18.78:8.94:9.84:1.00:1.00:1.00:60:108.6:0:0:61:89:20:chr2 g.199632865C>T (intergenic),chr2 g.199632865C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 199632868 rs145854169 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,T:5:4:0:0:2,3:63,105:0.00,10.47:0.00,3.16:0.00,7.31:0.00,0.78:0.00,0.97:0.00,0.97:60,60:64.5,138.0:0,0:0,0:64,63:79,87:61,4:-,chr2 g.199632867C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 199632870 rs146802127 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=60 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:5:4:0:0:2,3:67,102:0.00,10.17:0.00,3.01:0.00,7.16:0.00,0.78:0.00,0.97:0.00,0.97:60,60:18.5,119.7:0,0:0,0:58,69:84,50:53,4:-,chr2 g.199632869C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 199711291 rs71397712 A ATGTGTGTGTGTGTGTG 14 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=5;NP=57;PC=0.008;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:ATGTGTGTGTGTGTGTG:4:1:4:0:4:125:14.41:1.94:12.47:1.00:1.00:1.00:70:38.0:0:0:99:42:9:chr2 g.199711291_199711292insTGTGTGTGTGTGTGTG (intergenic),chr2 g.199711291_199711292insTGTGTGTGTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 199753839 rs71015858 TTG T 6 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=263;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TTG,T:4:4:0:4:2,2:64,128:0.00,6.35:0.00,1.22:0.00,5.12:0.00,0.42:0.00,0.81:0.00,0.86:60,60:0.0,18.0:0,2:0,0:87,59:63,75:61,16:-,chr2 g.199753840_199753841delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 199786779 rs141732720 G C,GAC 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=22;PC=0.562 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:29:C,GAC:4:4:3:0:1,3:35,98:3.38,10.86:3.38,5.43:0.00,5.43:0.00,0.85:0.00,0.85:0.00,0.99:60,60:35.0,37.3:0,0:0,0:98,13:23,98:0,6:chr2 g.199786778G>C (intergenic),chr2 g.199786779_199786780insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 200032171 rs542206289 T TCACACA 9 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.054;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:T,TCACACA:6:10:7:0:3,3:95,222:0.00,8.90:0.00,3.72:0.00,5.18:0.00,0.62:0.00,0.62:0.00,0.89:60,70:69.3,145.0:0,4:0,0:106,49:39,97:7,22:-,chr2 g.200032171_200032172insCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 200032173 rs3042285 T A 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:376:42.85:28.98:13.87:1.00:1.00:1.00:70:70.5:1:0:61:82:41:chr2 g.200032172T>A (intergenic),chr2 g.200032172T>A (intergenic):0.4,0.4:NOT_FOUND,NOT_FOUND 2 200032395 rs2122844 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:55.5:0:0:112:37:11:chr2 g.200032394C>T (intergenic),chr2 g.200032394C>T (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 2 200137396 . C . . NT END=200173482;NT GT ./. 2 200137608 rs2881208 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=SATB2/NM_001172509.1/0;CC=c.1741-213A>G;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.1741-213A>G;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.1741-213A>G;VC=Intron;DM=SATB2/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T:9:0:0:0:4,5:112,168:10.40,0.00:0.00,0.00:10.40,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:59.5,0.0:0,0:0,0:113,65:33,86:11,37:NM_015265.3(SATB2) c.1741-213A>G,-:0.44,-:NOT_FOUND,- 2 200173312 rs3748904 T C 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SATB2/NM_001172509.1/0;CC=c.1740+171A>G;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.1740+171A>G;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.1740+171A>G;VC=Intron;DM=SATB2/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,T:8:8:0:0:7,1:239,8:26.09,0.00:26.09,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.7,105.0:0,0:0,0:62,69:89,43:21,0:NM_015265.3(SATB2) c.1740+171A>G,NM_015265.3(SATB2) c.1740+171A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 2 200173681 . C . . NT END=200188525;NT GT ./. 2 200173684 rs10153730 T G 296 nt VT=SNV;PN=G;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.925;Gene=SATB2/NM_001172509.1/0;CC=c.1543-4A>C;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.1543-4A>C;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.1543-4A>C;VC=Intron;DM=SATB2/CUT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:33:0:0:78:2593:296.44:76.21:220.23:1.00:1.00:1.00:60:38.3:0:0:89:59:36:NM_015265.3(SATB2) c.1543-4A>C,NM_015265.3(SATB2) c.1543-4A>C:0.94,0.94:0.933031,0.933031 2 200188197 rs139535802 C CAT 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=354;Gene=SATB2/NM_001172509.1/0;CC=c.1542+328_1542+329insAT;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.1542+328_1542+329insAT;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.1542+328_1542+329insAT;VC=Intron;DM=SATB2/CUT;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,CAT:6:6:3:0:3,3:79,98:0.00,9.43:0.00,7.85:0.00,1.59:0.00,0.73:0.00,0.73:0.00,0.79:60,60:82.3,22.0:2,0:0,0:26,78:124,70:4,2:-,NM_015265.3(SATB2) c.1542+328_1542+329insAT:-,0.95:-,NOT_FOUND 2 200188231 rs372830951 C T,CACATAGACAT 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DM=SATB2/CUT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:C,T,CACATAGACAT:9:8:1:0:1,7,1:11,227,22:0.00,24.66,1.68:0.00,17.83,1.68:0.00,6.84,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:0.0,48.4,95.0:0,0,0:0,0,0:114,57,56:8,91,94:0,32,0:NM_015265.3(SATB2) c.1542+295G>A,NM_015265.3(SATB2) c.1542+294_1542+295insATGTCTATGT:0.62,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 200188682 . C . . NT END=200193420;NT GT ./. 2 200193634 . C . . NT END=200213423;NT GT ./. 2 200213897 . C . . NT END=200233327;NT GT ./. 2 200233431 . C . . NT END=200245086;NT GT ./. 2 200233433 rs199978702 G GA 7 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SATB2/NM_001172509.1/0;CC=c.598-4dupT;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.598-4dupT;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.598-4dupT;VC=Intron;DM=SATB2/CUTL;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,G,GA:27:13:3:0:1,23,3:11,733,92:-0.02,0.00,6.60:-0.13,0.00,5.14:0.11,0.00,1.46:0.00,0.00,0.44:0.00,0.00,0.70:0.00,0.00,0.82:60,60,60:86.0,12.9,0.0:0,0,0:0,0,0:87,89,87:63,55,62:0,16,3:-,NM_015265.3(SATB2) c.598-4_598-3insT:-,0.02:-,0.006238 2 200245211 . C . . NT END=200246416;NT GT ./. 2 200245245 rs1348813 C G 209 nt VT=SNV;PN=A;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=SATB2/NM_001172509.1/0;CC=c.474-35G>C;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.474-35G>C;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.474-35G>C;VC=Intron;DM=SATB2/CUTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:G:55:27:0:0:55:1831:209.25:61.74:147.51:1.00:1.00:1.00:60:39.0:0:0:107:37:26:NM_015265.3(SATB2) c.474-35G>C,NM_015265.3(SATB2) c.474-35G>C:0.53,0.53:0.629017,0.629017 2 200246544 . C . . NT END=200298060;NT GT ./. 2 200298238 . C . . NT END=200320591;NT GT ./. 2 200298313 rs7596597 A G 181 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.984;Gene=SATB2/NM_001172509.1/0;CC=c.170-76T>C;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.170-76T>C;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.170-76T>C;VC=Intron;DM=SATB2/ULD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:G:47:6:0:0:47:1584:180.79:13.72:167.07:1.00:1.00:1.00:60:39.3:0:0:91:60:33:NM_015265.3(SATB2) c.170-76T>C,NM_015265.3(SATB2) c.170-76T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 200315814 rs56071011 AAC A 8 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=30;Gene=SATB2/NM_001172509.1/0;CC=c.169+4776_169+4777delGT;VC=Intron;Gene=SATB2/NM_001172517.1/0;CC=c.169+4776_169+4777delGT;VC=Intron;Gene=SATB2/NM_015265.3/1;CC=c.169+4776_169+4777delGT;VC=Intron;DM=SATB2/ULD;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:AAC,A:6:3:0:3:3,3:102,83:0.00,7.92:0.00,3.27:0.00,4.65:0.00,0.73:0.00,0.89:0.00,0.96:60,70:38.3,6.0:0,0:0,0:81,73:69,78:22,29:-,NM_015265.3(SATB2) c.169+4776_169+4777delGT:-,NOT_FOUND:-,NOT_FOUND 2 200320761 . G . . NT END=200776161;NT GT ./. 2 200475410 rs139325497 T TGTGTGTGC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=10;NP=2;NP=2;NP=27;NP=3;NP=75;Gene=LOC101927641/NR_110270.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TGTGTGTGC:4:3:3:0:1,3:33,97:0.00,10.15:0.00,4.83:0.00,5.33:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,0.0:0,0:0,0:47,71:65,80:0,10:-,chr2 g.200475410_200475411insGTGTGTGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 200525076 rs77443884 A G 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:29:0:0:23,23:726,740:0.00,71.07:0.00,30.76:0.00,40.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,36.3:0,0:0,0:81,43:69,108:39,33:-,chr2 g.200525075A>G (intergenic):-,0.08:-,NOT_FOUND 2 200611749 rs57435759 AACAC A 6 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=223;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:AACAC,A:3:5:0:4:1,2:34,127:0.00,6.44:0.00,4.80:0.00,1.64:0.00,0.46:0.00,0.46:0.00,0.80:60,60:35.0,15.5:0,2:0,0:90,29:48,98:0,14:-,chr2 g.200611750_200611753delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 200776353 rs62178345 T G 248 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=164;DB;DBA=NA;PAF=NA;PC=0.976;Gene=C2orf69/NM_153689.5/1;CC=c.192T>G;ProtCh=p.D64E;VC=Missense;DM=C2orf69/UPF0565 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:164:106:0:0:78,86:2605,2709:248.39,0.00:144.44,0.00:103.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,7.7:0,0:0,0:70,72:77,71:38,29:NM_153689.5(C2orf69) c.192T>G (p.Asp64Glu),-:0.1,-:NOT_FOUND,- 2 200776495 . G . . NT END=200789784;NT GT ./. 2 200790610 . G . . NT END=200797789;NT GT ./. 2 200797675 rs552954826 C CT 22 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=43;PC=0.001;Gene=TYW5/NM_001039693.2/1;CC=c.*114dupA;VC=3UTR;Gene=TYW5/NR_004862.1/0;VC=NonCoding;Gene=TYW5/NR_109905.1/0;VC=NonCoding;Gene=TYW5/NR_109906.1/0;VC=NonCoding;Gene=TYW5/NR_109907.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:21:21:8:0:13,8:381,246:0.00,22.36:0.00,22.36:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:18.1,5.1:0,0:0,0:28,28:121,121:23,15:-,NM_001039693.2(TYW5) c.*114dupA:-,NOT_FOUND:-,NOT_FOUND 2 200798047 . C . . NT END=200800653;NT GT ./. 2 200800442 . AACACACACACACAC A 8 nt VT=DEL;SST=Single;DP=12;PC=0.015;Gene=TYW5/NM_001039693.2/1;CC=c.691+198_691+211delGTGTGTGTGTGTGT;VC=Intron;Gene=TYW5/NR_004862.1/0;VC=NonCoding;Gene=TYW5/NR_109905.1/0;VC=NonCoding;Gene=TYW5/NR_109906.1/0;VC=NonCoding;Gene=TYW5/NR_109907.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:AACACACACACACAC,A:11:11:0:4:8,3:261,128:0.00,8.33:0.00,3.89:0.00,4.44:0.00,0.59:0.00,0.93:0.00,0.69:60,60:28.6,32.0:0,1:0,0:63,80:66,70:40,4:-,NM_001039693.2(TYW5) c.691+198_691+211delGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 200800493 rs6435039 A G 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1299;Gene=TYW5/NM_001039693.2/1;CC=c.691+161T>C;VC=Intron;Gene=TYW5/NR_004862.1/0;VC=NonCoding;Gene=TYW5/NR_109905.1/0;VC=NonCoding;Gene=TYW5/NR_109906.1/0;VC=NonCoding;Gene=TYW5/NR_109907.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,G:11:10:0:0:3,8:50,228:0.00,23.87:0.00,18.52:0.00,5.36:0.00,1.00:0.00,1.00:0.00,0.94:60,60:50.3,31.8:1,0:0,0:86,64:33,83:31,43:-,NM_001039693.2(TYW5) c.691+161T>C:-,NOT_FOUND:-,NOT_FOUND 2 200800572 rs371263004 TA T 7 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=150;PC=0.001;Gene=TYW5/NM_001039693.2/1;CC=c.691+81delT;VC=Intron;Gene=TYW5/NR_004862.1/0;VC=NonCoding;Gene=TYW5/NR_109905.1/0;VC=NonCoding;Gene=TYW5/NR_109906.1/0;VC=NonCoding;Gene=TYW5/NR_109907.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:TA,I,T:20:18:2:3:15,2,3:472,54,92:0.00,3.68,7.11:0.00,2.18,7.25:0.00,1.49,-0.14:0.00,0.00,0.50:0.00,0.00,0.89:0.00,0.00,0.49:60,60,60:10.9,36.5,14.0:0,0,0:0,0,0:44,82,59:107,61,92:35,46,18:-,NM_001039693.2(TYW5) c.691+81delT:-,NOT_FOUND:-,NOT_FOUND 2 200800771 . C . . NT END=200801127;NT GT ./. 2 200801216 . C . . NT END=200803655;NT GT ./. 2 200803794 . C . . NT END=200804811;NT GT ./. 2 200804857 . C . . NT END=200808487;NT GT ./. 2 200808455 rs16832081 A G 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.230;Gene=TYW5/NM_001039693.2/1;CC=c.303+33T>C;VC=Intron;Gene=TYW5/NR_004862.1/0;VC=NonCoding;Gene=TYW5/NR_109905.1/0;VC=NonCoding;Gene=TYW5/NR_109906.1/0;VC=NonCoding;Gene=TYW5/NR_109907.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:30:0:0:15,20:466,656:0.00,64.77:0.00,43.79:0.00,20.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.4,36.9:0,0:0,0:50,26:99,121:38,12:-,NM_001039693.2(TYW5) c.303+33T>C:-,0.09:-,0.148533 2 200808558 . C . . NT END=200813040;NT GT ./. 2 200813196 . C . . NT END=200820115;NT GT ./. 2 200819794 rs281764 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TYW5/NM_001039693.2/1;CC=c.78+322C>T;VC=Intron;Gene=TYW5/NR_004862.1/0;VC=NonCoding;Gene=TYW5/NR_109905.1/0;VC=NonCoding;Gene=TYW5/NR_109906.1/0;VC=NonCoding;Gene=TYW5/NR_109907.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:4:0:0:3,1:95,33:9.95,0.00:9.95,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:92.7,33.0:0,0:0,0:56,34:94,117:4,0:NM_001039693.2(TYW5) c.78+322C>T,-:0.74,-:NOT_FOUND,- 2 200820194 . G . . NT END=200820521;NT GT ./. 2 200820505 rs281766 T G 277 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.999;Gene=C2orf47/NM_024520.2/1;CC=c.-17T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:78:66:0:0:2,76:18,2414:0.37,276.71:0.22,196.37:0.14,80.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:160.0,37.6:0,0:0,0:81,45:47,101:20,26:NM_024520.2(C2orf47) c.-17T>G,NM_024520.2(C2orf47) c.-17T>G:0.84,0.84:0.845666,0.845666 2 200820972 . G . . NT END=200823990;NT GT ./. 2 200824063 . G . . NT END=200824476;NT GT ./. 2 200824604 . G . . NT END=200826503;NT GT ./. 2 200826652 . G . . NT END=200828455;NT GT ./. 2 200828535 . T . . NT END=201170734;NT GT ./. 2 201171325 . G . . NT END=201171355;NT GT ./. 2 201171646 . G . . NT END=201194153;NT GT ./. 2 201194204 . G . . NT END=201236831;NT GT ./. 2 201236975 . g . . NT END=201242971;NT GT ./. 2 201243095 . G . . NT END=201248589;NT GT ./. 2 201248741 . G . . NT END=201253945;NT GT ./. 2 201253769 rs3739118 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=SPATS2L/NM_001282735.1/0;CC=c.-22-177G>A;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.-141-23265G>A;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.-22-177G>A;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.-22-177G>A;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.-22-177G>A;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.-22-177G>A;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.69-177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:383:44.02:44.02:0.00:1.00:1.00:0.00:60:32.8:0:0:51:99:29:NM_001100422.1(SPATS2L) c.-22-177G>A,NM_001100422.1(SPATS2L) c.-22-177G>A:0.19,0.19:NOT_FOUND,NOT_FOUND 2 201253956 rs842823 A G 98 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.174;Gene=SPATS2L/NM_001282735.1/0;CC=c.-12A>G;VC=5UTR;Gene=SPATS2L/NM_001282743.1/0;CC=c.-141-23078A>G;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.-12A>G;VC=5UTR;Gene=SPATS2L/NM_001100422.1/0;CC=c.-12A>G;VC=5UTR;Gene=SPATS2L/NM_001100424.1/0;CC=c.-12A>G;VC=5UTR;Gene=SPATS2L/NM_001100423.1/0;CC=c.-12A>G;VC=5UTR;Gene=SPATS2L/NM_001282744.1/1;CC=c.79A>G;ProtCh=p.T27A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A,G:29:19:0:0:1,28:30,862:0.00,97.62:0.00,49.57:0.00,48.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:94.0,43.6:0,0:0,0:78,69:73,81:0,33:NM_001100422.1(SPATS2L) c.-12A>G,NM_001100422.1(SPATS2L) c.-12A>G:0.24,0.24:0.27817,0.27817 2 201254007 . G . . NT END=201277033;NT GT ./. 2 201254049 rs3820881 G C 63 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.022;Gene=SPATS2L/NM_001282735.1/0;CC=c.39+43G>C;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.-141-22985G>C;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.39+43G>C;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.39+43G>C;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.39+43G>C;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.39+43G>C;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.129+43G>C;VC=Intron;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:7:0:0:18:543:62.72:19.58:43.13:1.00:1.00:1.00:60:66.9:0:0:105:45:28:NM_001100422.1(SPATS2L) c.39+43G>C,NM_001100422.1(SPATS2L) c.39+43G>C:0.72,0.72:0.713497,0.713497 2 201254171 rs4674015 A G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=SPATS2L/NM_001282735.1/0;CC=c.39+165A>G;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.-141-22863A>G;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.39+165A>G;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.39+165A>G;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.39+165A>G;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.39+165A>G;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.129+165A>G;VC=Intron;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:284:32.66:0.00:32.66:1.00:0.00:1.00:60:41.4:0:0:83:68:18:NM_001100422.1(SPATS2L) c.39+165A>G,NM_001100422.1(SPATS2L) c.39+165A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 201254277 rs842824 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SPATS2L/NM_001282735.1/0;CC=c.39+271A>G;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.-141-22757A>G;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.39+271A>G;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.39+271A>G;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.39+271A>G;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.39+271A>G;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.129+271A>G;VC=Intron;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:35.0:0:0:65:86:28:NM_001100422.1(SPATS2L) c.39+271A>G,NM_001100422.1(SPATS2L) c.39+271A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 2 201277011 . CT C 10 idl,rn VT=DEL;SST=Single;DP=29;NP=23;PC=0.007;Gene=SPATS2L/NM_001282735.1/0;CC=c.40-10delT;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.-141-10delT;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.40-10delT;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.40-10delT;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.40-10delT;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.40-10delT;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.130-10delT;VC=Intron;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:CT,I,C:28:26:2:5:22,2,4:762,66,165:0.00,4.55,10.35:0.00,4.74,3.44:0.00,-0.19,6.91:0.00,0.00,0.65:0.00,0.00,0.94:0.00,0.00,0.80:60,60,60:26.0,4.0,73.0:0,0,1:0,0,0:53,78,35:96,71,116:32,13,15:-,NM_001100422.1(SPATS2L) c.40-22delT:-,NOT_FOUND:-,NOT_FOUND 2 201277143 . G . . NT END=201281101;NT GT ./. 2 201277181 rs6706953 T C 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SPATS2L/NM_001282735.1/0;CC=c.148+39T>C;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.-33+39T>C;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.148+39T>C;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.148+39T>C;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.148+39T>C;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.148+39T>C;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.238+39T>C;VC=Intron;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:446:51.24:0.00:51.24:1.00:0.00:1.00:60:39.0:0:0:105:45:27:NM_001100422.1(SPATS2L) c.148+39T>C,NM_001100422.1(SPATS2L) c.148+39T>C:0.44,0.44:0.509264,0.509264 2 201280996 rs5837739 CA C 35 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=35;Gene=SPATS2L/NM_001282735.1/0;CC=c.149-89delA;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.-32-89delA;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.149-89delA;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.149-89delA;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.149-89delA;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.149-89delA;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.239-89delA;VC=Intron;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CA,C:11:13:0:12:1,10:21,390:0.00,35.29:0.00,35.29:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.0,41.5:0,2:0,0:95,37:56,113:0,25:NM_001100422.1(SPATS2L) c.149-105delA,NM_001100422.1(SPATS2L) c.149-105delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 201281152 . G . . NT END=201283972;NT GT ./. 2 201284220 . G . . NT END=201303844;NT GT ./. 2 201284433 rs71405319 A CT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=7;Gene=SPATS2L/NM_001282735.1/0;CC=c.445+213_445+214insC;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.265+213_265+214insC;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.445+213_445+214insC;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.445+213_445+214insC;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.445+213_445+214insC;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.445+213_445+214insC;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.535+213_535+214insC;VC=Intron;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;DM=SPATS2L/DUF1387;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,CT:7:1:4:0:3,4:88,123:0.00,12.13:0.00,3.23:0.00,8.90:0.00,0.90:0.00,0.71:0.00,0.99:60,70:27.0,24.2:0,0:0,0:129,87:21,64:2,12:-,NM_001100422.1(SPATS2L) c.445+214delAinsCT:-,NOT_FOUND:-,NOT_FOUND 2 201304052 . G . . NT END=201305371;NT GT ./. 2 201305508 . G . . NT END=201324491;NT GT ./. 2 201324551 . G . . NT END=201332012;NT GT ./. 2 201332123 . G . . NT END=201334636;NT GT ./. 2 201334404 rs17532280 C A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SPATS2L/NM_001282735.1/0;CC=c.958-233C>A;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.778-233C>A;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.958-233C>A;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.958-233C>A;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.751-233C>A;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.958-233C>A;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.1048-233C>A;VC=Intron;DM=SPATS2L/DUF1387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,C:8:8:0:0:4,4:101,133:9.58,0.00:9.58,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:61.5,0.0:0,0:0,0:68,73:82,77:60,27:NM_001100422.1(SPATS2L) c.958-233C>A,-:0.18,-:NOT_FOUND,- 2 201334740 . G . . NT END=201337554;NT GT ./. 2 201334852 rs17532294 A G 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=SPATS2L/NM_001282735.1/0;CC=c.1060+113A>G;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.880+113A>G;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.1060+113A>G;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.1060+113A>G;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.853+113A>G;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.1060+113A>G;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.1150+113A>G;VC=Intron;DM=SPATS2L/DUF1387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:10,7:270,237:0.00,22.06:0.00,0.00:0.00,22.06:0.00,0.98:0.00,0.00:0.00,0.98:60,60:27.4,35.6:0,0:0,0:121,112:29,39:25,37:-,NM_001100422.1(SPATS2L) c.1060+113A>G:-,0.24:-,NOT_FOUND 2 201337776 . G . . NT END=201342358;NT GT ./. 2 201337806 . GA G 45 idl,rn VT=DEL;SST=Single;DP=55;NP=3;Gene=SPATS2L/NM_001282735.1/0;CC=c.1281+46delA;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.1101+46delA;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.1281+46delA;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.1281+46delA;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.1074+46delA;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.1281+46delA;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.1371+46delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:51:19:2:21:32,2,17:903,56,626:0.00,3.17,45.42:0.00,1.89,9.84:0.00,1.28,35.58:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.8,0.0,35.9:0,0,4:0,0,0:135,78,103:9,73,45:13,28,24:-,NM_001100422.1(SPATS2L) c.1281+32delA:-,NOT_FOUND:-,NOT_FOUND 2 201338052 rs2881745 A G 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SPATS2L/NM_001282735.1/0;CC=c.1281+277A>G;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.1101+277A>G;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.1281+277A>G;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.1281+277A>G;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.1074+277A>G;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.1281+277A>G;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.1371+277A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:110:12.90:0.00:12.90:1.00:0.00:1.00:60:44.8:0:0:115:35:31:NM_001100422.1(SPATS2L) c.1281+277A>G,NM_001100422.1(SPATS2L) c.1281+277A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 2 201342238 rs553110097 TA T 18 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=SPATS2L/NM_001282735.1/0;CC=c.1282-98delA;VC=Intron;Gene=SPATS2L/NM_001282743.1/0;CC=c.1102-98delA;VC=Intron;Gene=SPATS2L/NM_015535.2/0;CC=c.1282-98delA;VC=Intron;Gene=SPATS2L/NM_001100422.1/0;CC=c.1282-98delA;VC=Intron;Gene=SPATS2L/NM_001100424.1/0;CC=c.1075-98delA;VC=Intron;Gene=SPATS2L/NM_001100423.1/0;CC=c.1282-98delA;VC=Intron;Gene=SPATS2L/NM_001282744.1/1;CC=c.1372-98delA;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:14:23:0:15:8,6:203,466:0.00,17.83:0.00,17.83:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:52.4,85.3:0,9:0,0:113,43:17,108:14,19:-,NM_001100422.1(SPATS2L) c.1282-120delA:-,NOT_FOUND:-,NOT_FOUND 2 201342755 . G . . NT END=201354822;NT GT ./. 2 201354935 rs3795969 C G 189 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=139;DB;DBA=NA;PAF=NA;PC=0.251;Gene=KCTD18/NM_152387.2/1;CC=c.1169G>C;ProtCh=p.C390S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:139:103:0:0:1,77,61:8,2550,2015:-0.19,0.00,189.47:-0.14,0.00,116.77:-0.06,0.00,72.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:73.0,7.8,39.5:0,0,0:0,0,0:82,91,66:68,56,85:0,35,30:-,NM_152387.2(KCTD18) c.1169G>C (p.Cys390Ser):-,0.35:-,0.336691 2 201355340 . C . . NT END=201357894;NT GT ./. 2 201355533 rs10497864 A G 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=KCTD18/NM_152387.2/1;CC=c.765-194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,G:13:0:0:0:5,8:167,255:0.00,25.55:0.00,0.00:0.00,25.55:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.8,31.9:0,0:0,0:114,143:37,7:18,6:-,NM_152387.2(KCTD18) c.765-194T>C:-,0.23:-,NOT_FOUND 2 201357998 . C . . NT END=201362475;NT GT ./. 2 201362571 . C . . NT END=201363613;NT GT ./. 2 201363808 . C . . NT END=201369470;NT GT ./. 2 201369683 . C . . NT END=201371579;NT GT ./. 2 201371740 . T . . NT END=201397062;NT GT ./. 2 201371768 rs3739116 G T 211 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=KCTD18/NM_152387.2/1;CC=c.-29C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:T:59:25:0:0:59:1827:210.68:60.15:150.53:1.00:1.00:1.00:60:40.2:0:0:91:54:31:NM_152387.2(KCTD18) c.-29C>A,NM_152387.2(KCTD18) c.-29C>A:0.78,0.78:0.797324,0.797324 2 201396905 rs34341856 A G 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=SGOL2/NM_001160046.1/0;CC=c.-2-792A>G;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.-2-792A>G;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.-2-792A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,G:17:17:0:0:13,4:388,127:0.00,10.59:0.00,10.59:0.00,0.00:0.00,0.74:0.00,0.74:0.00,0.00:60,60:20.2,74.8:0,0:0,0:89,60:62,91:34,13:-,NM_152524.5(SGOL2) c.-2-792A>G:-,0.23:-,NOT_FOUND 2 201396986 rs67868292 G C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SGOL2/NM_001160046.1/0;CC=c.-2-711G>C;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.-2-711G>C;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.-2-711G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,G,T:11:8:0:0:4,6,1:95,186,10:8.46,0.00,0.28:7.42,0.00,-0.21:1.03,0.00,0.49:0.98,0.00,0.00:0.96,0.00,0.00:0.76,0.00,0.00:60,60,60:86.0,26.2,43.0:1,0,0:0,0,0:127,88,9:23,36,142:14,39,0:NM_152524.5(SGOL2) c.-2-711G>C,-:0.09,-:NOT_FOUND,- 2 201397007 rs66740233 G T 26 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=19;PC=0.001;Gene=SGOL2/NM_001160046.1/0;CC=c.-2-690G>T;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.-2-690G>T;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.-2-690G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:G,T,I,D:16:9:2:3:5,8,2,1:128,262,64,29:0.00,26.12,5.26,2.03:0.00,8.99,-0.26,-0.12:0.00,17.13,5.52,2.16:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:30.2,94.8,19.0,0.0:0,0,0,0:0,0,0,0:108,22,21,6:16,121,124,144:37,9,6,0:-,NM_152524.5(SGOL2) c.-2-690G>T:-,NOT_FOUND:-,NOT_FOUND 2 201397079 . G . . NT END=201397696;NT GT ./. 2 201397345 rs17636455 T C 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=SGOL2/NM_001160046.1/0;CC=c.-2-352T>C;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.-2-352T>C;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.-2-352T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:9:0:0:0:6,3:175,101:17.87,0.00:0.00,0.00:17.87,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:37.7,0.0:0,0:0,0:116,117:34,33:16,27:NM_152524.5(SGOL2) c.-2-352T>C,-:0.23,-:NOT_FOUND,- 2 201397569 rs842940 G A 72 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=SGOL2/NM_001160046.1/0;CC=c.-2-128G>A;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.-2-128G>A;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.-2-128G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:A,G:23:23:0:0:22,1:637,12:72.38,0.00:70.60,0.00:1.78,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:71.5,153.0:0,0:0,0:32,127:117,24:25,0:NM_152524.5(SGOL2) c.-2-128G>A,NM_152524.5(SGOL2) c.-2-128G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 201397647 rs842939 A C 183 nt VT=SNV;PN=T;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=SGOL2/NM_001160046.1/0;CC=c.-2-50A>C;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.-2-50A>C;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.-2-50A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:C:48:41:0:0:48:1599:182.79:133.14:49.65:1.00:1.00:1.00:60:66.1:0:0:55:90:32:NM_152524.5(SGOL2) c.-2-50A>C,NM_152524.5(SGOL2) c.-2-50A>C:0.69,0.69:0.772933,0.772933 2 201397724 rs1036533 G A 96 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SGOL2/NM_001160046.1/0;CC=c.26G>A;ProtCh=p.G9D;VC=Missense;Gene=SGOL2/NM_001160033.1/1;CC=c.26G>A;ProtCh=p.G9D;VC=Missense;Gene=SGOL2/NM_152524.5/0;CC=c.26G>A;ProtCh=p.G9D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:73:54:0:0:34,38,1:1015,1220,13:96.07,0.00,0.02:59.73,0.00,-0.13:36.34,0.00,0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:56.4,19.1,42.0:0,0,0:0,0,0:79,59,96:71,80,55:25,37,0:NM_152524.5(SGOL2) c.26G>A (p.Gly9Asp),-:0.07,-:0.052497,- 2 201397832 . G . . NT END=201399718;NT GT ./. 2 201399895 . G . . NT END=201400787;NT GT ./. 2 201400866 . G . . NT END=201407301;NT GT ./. 2 201407388 . G . . NT END=201434385;NT GT ./. 2 201407457 rs533919952 G T 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=15;Gene=SGOL2/NM_001160046.1/0;CC=c.473+70G>T;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.473+70G>T;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.473+70G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:3:0:0:13,10:419,319:0.00,29.83:0.00,1.14:0.00,28.70:0.00,1.00:0.00,0.83:0.00,1.00:60,60:10.3,32.9:0,0:0,0:99,126:52,24:39,17:-,NM_152524.5(SGOL2) c.473+70G>T:-,NOT_FOUND:-,NOT_FOUND 2 201434616 . G . . NT END=201435772;NT GT ./. 2 201437328 rs35987478 C A 64 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=SGOL2/NM_001160046.1/0;CC=c.2259C>A;ProtCh=p.I753=;VC=Silent;Gene=SGOL2/NM_001160033.1/1;CC=c.2259C>A;ProtCh=p.I753=;VC=Silent;Gene=SGOL2/NM_152524.5/0;CC=c.2259C>A;ProtCh=p.I753=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:54:36:0:0:23,31:689,964:63.82,0.00:43.32,0.00:20.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.5,8.6:0,0:0,0:72,70:77,81:25,35:NM_152524.5(SGOL2) c.2259C>A (p.(=)),-:0.23,-:0.214286,- 2 201437334 rs12052989 T C 67 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=SGOL2/NM_001160046.1/0;CC=c.2265T>C;ProtCh=p.P755=;VC=Silent;Gene=SGOL2/NM_001160033.1/1;CC=c.2265T>C;ProtCh=p.P755=;VC=Silent;Gene=SGOL2/NM_152524.5/0;CC=c.2265T>C;ProtCh=p.P755=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:54:34:0:0:24,1,29:718,13,917:67.39,0.07,0.00:42.66,0.19,0.00:24.73,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:65.7,61.0,9.2:0,0,0:0,0,0:77,0,76:72,151,75:28,0,32:NM_152524.5(SGOL2) c.2265T>C (p.(=)),-:0.76,-:0.761265,- 2 201438701 . G . . NT END=201440033;NT GT ./. 2 201439868 rs7580695 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=740;Gene=SGOL2/NM_001160046.1/0;CC=c.3632-166A>G;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.3632-173A>G;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.3632-166A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:139:15.81:15.81:0.00:1.00:1.00:0.00:60:46.0:0:0:30:121:9:NM_152524.5(SGOL2) c.3632-166A>G,NM_152524.5(SGOL2) c.3632-166A>G:1,1:NOT_FOUND,NOT_FOUND 2 201440185 . G . . NT END=201448171;NT GT ./. 2 201440299 rs3764778 A G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=SGOL2/NM_001160046.1/0;CC=c.3782+115A>G;VC=Intron;Gene=SGOL2/NM_001160033.1/1;CC=c.3775+115A>G;VC=Intron;Gene=SGOL2/NM_152524.5/0;CC=c.3782+115A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:1:0:0:8,8:266,274:0.00,26.40:0.00,-0.15:0.00,26.55:0.00,1.00:0.00,0.67:0.00,1.00:60,60:6.6,37.6:0,0:0,0:71,94:78,57:54,31:-,NM_152524.5(SGOL2) c.3782+115A>G:-,0.23:-,NOT_FOUND 2 201448188 . A . . NT END=201450831;NT GT ./. 2 201448283 rs3840472 G GT 18 rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=269;Gene=SGOL2/NM_001160033.1/1;CC=c.*114dupT;VC=3UTR;Gene=SGOL2/NM_152524.5/0;CC=c.*106dupT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:G,GT,D:18:4:7:1:11,6,1:274,228,32:0.00,17.57,2.15:0.00,1.24,-0.06:0.00,16.33,2.20:0.00,0.94,0.00:0.00,0.78,0.00:0.00,0.99,0.00:60,60,60:13.3,11.3,0.0:0,1,0:0,0,0:120,120,131:31,31,19:23,7,0:-,NM_152524.5(SGOL2) c.*106dupT:-,0.1:-,NOT_FOUND 2 201450877 . G . . NT END=201457868;NT GT ./. 2 201451006 rs4470327 C T 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.45+130C>T;VC=Intron;DM=AOX1/Ald_Xan_dh_C2;DM=AOX1/Ald_Xan_dh_C2;DM=AOX1/Fer2;DM=AOX1/Fer2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:1:0:0:8,10:228,330:0.00,32.48:0.00,1.86:0.00,30.62:0.00,1.00:0.00,0.70:0.00,1.00:60,60:18.8,37.3:0,0:0,0:94,112:55,37:19,15:-,NM_001159.3(AOX1) c.45+130C>T:-,0.78:-,NOT_FOUND 2 201457927 . G . . NT END=201459994;NT GT ./. 2 201460092 . G . . NT END=201462119;NT GT ./. 2 201462229 . G . . NT END=201464342;NT GT ./. 2 201464295 rs10179964 T C 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.310-48T>C;VC=Intron;DM=AOX1/Fer2_2;DM=AOX1/Fer2_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:42:0:0:18,29:579,944:52.91,0.00:40.82,0.00:12.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,6.0:0,0:0,0:54,64:95,87:40,33:NM_001159.3(AOX1) c.310-48T>C,-:0.64,-:0.591112,- 2 201464470 . G . . NT END=201467006;NT GT ./. 2 201464565 rs12993144 C T 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.436+96C>T;VC=Intron;DM=AOX1/Fer2_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:3:0:0:14,13:319,419:0.00,40.09:0.00,3.23:0.00,36.86:0.00,1.00:0.00,0.87:0.00,1.00:60,60:35.9,39.0:0,0:0,0:95,121:54,28:30,14:-,NM_001159.3(AOX1) c.436+96C>T:-,0.34:-,NOT_FOUND 2 201467069 . G . . NT END=201467989;NT GT ./. 2 201467231 rs2293524 A G 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.498+163A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,G:12:0:0:0:6,6:117,110:0.00,10.16:0.00,0.00:0.00,10.16:0.00,0.98:0.00,0.00:0.00,0.98:60,60:31.5,54.3:0,0:0,0:107,104:43,46:11,14:-,NM_001159.3(AOX1) c.498+163A>G:-,0.24:-,NOT_FOUND 2 201468080 . G . . NT END=201468739;NT GT ./. 2 201468515 rs12997909 T C 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.589-225T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:C,T:7:6:0:0:3,4:83,129:7.64,0.00:7.88,0.00:-0.24,0.00:0.69,0.00:0.95,0.00:0.62,0.00:60,60:33.7,4.8:0,0:0,0:60,63:91,86:2,31:NM_001159.3(AOX1) c.589-225T>C,-:0.24,-:NOT_FOUND,- 2 201468821 . G . . NT END=201469418;NT GT ./. 2 201468919 . A C 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;PC=0.001;Gene=AOX1/NM_001159.3/1;CC=c.669+99A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,C:14:0:0:0:7,7:237,177:0.00,16.74:0.00,0.00:0.00,16.74:0.00,0.99:0.00,0.00:0.00,0.99:60,60:7.7,38.4:0,0:0,0:81,129:69,22:17,21:-,NM_001159.3(AOX1) c.669+99A>C:-,NOT_FOUND:-,NOT_FOUND 2 201469564 . G . . NT END=201470258;NT GT ./. 2 201469625 rs13406379 G A 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.814+62G>A;VC=Intron;DM=AOX1/FAD_binding_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:12:0:0:14,20:437,605:40.36,0.00:10.27,0.00:30.09,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:42.8,41.9:0,0:0,0:110,87:40,62:36,43:NM_001159.3(AOX1) c.814+62G>A,-:0.07,-:NOT_FOUND,- 2 201469791 rs10187029 C G 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.814+228C>G;VC=Intron;DM=AOX1/FAD_binding_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,G:10:0:0:0:4,6:134,175:0.00,17.42:0.00,0.00:0.00,17.42:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,43.0:0,0:0,0:99,73:51,78:24,29:-,NM_001159.3(AOX1) c.814+228C>G:-,0.24:-,NOT_FOUND 2 201470233 rs554846029 ATTT A 46 idl,nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.017;Gene=AOX1/NM_001159.3/1;CC=c.815-13_815-11delTTT;VC=Intron;DM=AOX1/FAD_binding_5;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTT,I,A:23:20:1:16:8,1,14:212,33,523:0.00,2.24,45.83:0.00,2.28,31.08:0.00,-0.04,14.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:55.8,11.0,14.5:0,0,2:0,0,0:48,87,56:102,64,82:27,0,19:-,NM_001159.3(AOX1) c.815-25_815-23delTTT:-,NOT_FOUND:-,NOT_FOUND 2 201470352 . G . . NT END=201473706;NT GT ./. 2 201473457 rs71022326 A AC 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=390;Gene=AOX1/NM_001159.3/1;CC=c.908-246_908-245insC;VC=Intron;DM=AOX1/FAD_binding_5;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,AC:6:6:3:0:3,3:98,92:0.00,8.82:0.00,8.82:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:22.7,0.0:0,0:0,0:40,56:111,94:17,5:-,NM_001159.3(AOX1) c.908-250_908-249insC:-,0.76:-,NOT_FOUND 2 201473674 rs2470902 G A 104 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.908-33G>A;VC=Intron;DM=AOX1/FAD_binding_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:64:0:0:33,38:1095,1165:104.00,0.00:82.89,0.00:21.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,6.0:0,0:0,0:56,56:88,93:31,28:NM_001159.3(AOX1) c.908-33G>A,-:0.76,-:0.757727,- 2 201473859 . G . . NT END=201474043;NT GT ./. 2 201474138 . G . . NT END=201476106;NT GT ./. 2 201474237 rs4672858 A G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.1153+100A>G;VC=Intron;DM=AOX1/FAD_binding_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,G:11:2:0:0:8,3:255,104:0.00,9.03:0.00,3.41:0.00,5.62:0.00,0.60:0.00,0.56:0.00,0.60:60,60:9.8,34.7:0,0:0,0:123,110:28,41:11,10:-,NM_001159.3(AOX1) c.1153+100A>G:-,0.24:-,NOT_FOUND 2 201475874 rs2516310 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.1154-233A>G;VC=Intron;DM=AOX1/FAD_binding_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G:6:6:0:0:3,3:82,82:0.00,7.83:0.00,7.83:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:8.3,27.3:0,0:0,0:126,21:24,129:0,19:-,NM_001159.3(AOX1) c.1154-233A>G:-,0.64:-,NOT_FOUND 2 201476217 . G . . NT END=201477331;NT GT ./. 2 201476430 rs56096001 AT A 13 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=19;Gene=AOX1/NM_001159.3/1;CC=c.1263+229delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:AT,A:7:0:0:4:3,4:98,134:0.00,13.23:0.00,0.00:0.00,13.23:0.00,0.90:0.00,0.00:0.00,0.90:60,60:40.3,0.0:0,0:0,0:139,110:12,40:10,6:-,NM_001159.3(AOX1) c.1263+215delT:-,NOT_FOUND:-,NOT_FOUND 2 201477517 . G . . NT END=201478526;NT GT ./. 2 201477750 rs74267206 T TGAGAGAGA 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;Gene=AOX1/NM_001159.3/1;CC=c.1448+252_1448+253insGAGAGAGA;VC=Intron;DM=AOX1/CO_deh_flav_C;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TGAGAGAGA:4:3:2:0:2,2:69,66:0.00,6.35:0.00,3.33:0.00,3.02:0.00,0.51:0.00,0.89:0.00,0.51:60,70:0.0,5.0:0,0:0,0:87,111:34,25:44,16:-,NM_001159.3(AOX1) c.1448+234_1448+235insGAGAGAGA:-,NOT_FOUND:-,NOT_FOUND 2 201478690 . G . . NT END=201480693;NT GT ./. 2 201478896 rs6754573 G A 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.013;Gene=AOX1/NM_001159.3/1;CC=c.1611+207G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:187:21.55:0.00:21.55:1.00:0.00:1.00:60:49.0:0:0:114:37:12:NM_001159.3(AOX1) c.1611+207G>A,NM_001159.3(AOX1) c.1611+207G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 201480787 . G . . NT END=201485372;NT GT ./. 2 201485116 rs4672864 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.016;Gene=AOX1/NM_001159.3/1;CC=c.1705-257G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:65.8:0:0:36:114:10:NM_001159.3(AOX1) c.1705-257G>A,NM_001159.3(AOX1) c.1705-257G>A:0.31,0.31:NOT_FOUND,NOT_FOUND 2 201485120 rs59699466 C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=AOX1/NM_001159.3/1;CC=c.1705-253C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,101:0.00,10.55:0.00,10.55:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:34.0,76.3:0,0:0,0:96,38:55,113:0,4:-,NM_001159.3(AOX1) c.1705-253C>T:-,0.24:-,NOT_FOUND 2 201485543 . G . . NT END=201485842;NT GT ./. 2 201485572 rs4672865 A G 178 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.1874+30A>G;VC=Intron;DM=AOX1/Ald_Xan_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:G:49:17:0:0:49:1549:178.16:48.50:129.66:1.00:1.00:1.00:60:51.7:0:0:80:71:33:NM_001159.3(AOX1) c.1874+30A>G,NM_001159.3(AOX1) c.1874+30A>G:0.31,0.31:0.270644,0.270644 2 201485649 rs4672866 T G 154 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.1874+107T>G;VC=Intron;DM=AOX1/Ald_Xan_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:22:0:0:42:1345:154.37:81.72:72.65:1.00:1.00:1.00:60:56.0:0:0:91:59:42:NM_001159.3(AOX1) c.1874+107T>G,NM_001159.3(AOX1) c.1874+107T>G:0.32,0.32:NOT_FOUND,NOT_FOUND 2 201485970 . G . . NT END=201488583;NT GT ./. 2 201488413 rs4035120 A G 73 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.2002-171A>G;VC=Intron;DM=AOX1/Ald_Xan_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:21:0:0:21:630:72.98:72.98:0.00:1.00:1.00:0.00:60:34.5:0:0:38:112:31:NM_001159.3(AOX1) c.2002-171A>G,NM_001159.3(AOX1) c.2002-171A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 201488707 . G . . NT END=201492075;NT GT ./. 2 201488758 rs2348021 A G 187 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.2124+52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G:52:15:0:0:52:1627:187.48:36.77:150.71:1.00:1.00:1.00:60:38.3:0:0:86:58:32:NM_001159.3(AOX1) c.2124+52A>G,NM_001159.3(AOX1) c.2124+52A>G:0.6,0.6:0.619912,0.619912 2 201492173 . G . . NT END=201499513;NT GT ./. 2 201499639 . G . . NT END=201501633;NT GT ./. 2 201501768 . G . . NT END=201502937;NT GT ./. 2 201501844 rs143058314 C A 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.2480+77C>A;VC=Intron;DM=AOX1/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:61:12:0:0:25,35,1:649,1140,10:59.00,0.00,-0.09:8.79,0.00,-0.03:50.21,0.00,-0.06:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:35.8,3.5,76.0:0,0,0:0,0,0:107,117,76:43,34,75:23,22,0:NM_001159.3(AOX1) c.2480+77C>A,-:0.01,-:NOT_FOUND,- 2 201503026 . G . . NT END=201505820;NT GT ./. 2 201505908 . G . . NT END=201507332;NT GT ./. 2 201507525 . G . . NT END=201515696;NT GT ./. 2 201515925 . G . . NT END=201521564;NT GT ./. 2 201515939 rs868810 T C 207 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.3075+15T>C;VC=Intron;DM=AOX1/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:144:A,C:63:28:0:0:2,61:25,1794:0.82,207.15:0.38,65.14:0.45,142.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:64.0,38.9:0,0:0,0:77,98:73,52:54,31:NM_001159.3(AOX1) c.3075+15T>C,NM_001159.3(AOX1) c.3075+15T>C:0.79,0.79:0.914193,0.914193 2 201521472 rs2287011 G A 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.007;Gene=AOX1/NM_001159.3/1;CC=c.3076-93G>A;VC=Intron;DM=AOX1/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:133:A,G:9:9:0:0:5,4:163,131:16.00,0.00:14.37,0.00:1.63,0.00:0.96,0.00:0.96,0.00:0.84,0.00:60,60:36.0,12.0:0,0:0,0:35,34:115,117:18,18:NM_001159.3(AOX1) c.3076-93G>A,-:0.23,-:NOT_FOUND,- 2 201521661 . G . . NT END=201523887;NT GT ./. 2 201524017 . G . . NT END=201524717;NT GT ./. 2 201524793 . G . . NT END=201526301;NT GT ./. 2 201526355 . G . . NT END=201527577;NT GT ./. 2 201527693 . G . . NT END=201531409;NT GT ./. 2 201531260 rs2287010 C A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.3544-150C>A;VC=Intron;DM=AOX1/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,C:11:11:0:0:8,3:257,90:26.72,0.00:26.72,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.9,18.7:0,0:0,0:76,10:74,141:35,6:NM_001159.3(AOX1) c.3544-150C>A,-:0.62,-:NOT_FOUND,- 2 201531476 . G . . NT END=201533337;NT GT ./. 2 201533215 rs6730363 C T 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.3610-123C>T;VC=Intron;DM=AOX1/Ald_Xan_dh_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:13,15:420,454:0.00,44.17:0.00,44.17:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.8,48.9:0,0:0,0:76,21:75,130:35,10:-,NM_001159.3(AOX1) c.3610-123C>T:-,0.41:-,NOT_FOUND 2 201533527 . G . . NT END=201534297;NT GT ./. 2 201533985 rs2715908 A G 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.3799-313A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:8:8:0:0:4,4:126,139:0.00,13.40:0.00,13.40:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:19.2,45.5:0,0:0,0:10,57:139,93:8,25:-,NM_001159.3(AOX1) c.3799-313A>G:-,0.51:-,NOT_FOUND 2 201534136 rs2715907 C T 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.005;Gene=AOX1/NM_001159.3/1;CC=c.3799-162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:14:0:0:7,7:207,232:0.00,22.33:0.00,22.33:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:53.7,47.3:0,0:0,0:32,61:117,90:10,28:-,NM_001159.3(AOX1) c.3799-162C>T:-,0.4:-,NOT_FOUND 2 201534173 rs202142577 CA C 14 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=163;PC=0.001;Gene=AOX1/NM_001159.3/1;CC=c.3799-112delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:CA,I,C:27:26:4:5:18,4,5:529,129,164:0.00,10.24,13.53:0.00,10.35,13.66:0.00,-0.10,-0.13:0.00,0.00,0.82:0.00,0.00,0.98:0.00,0.00,0.45:60,60,60:36.4,28.8,39.8:0,0,0:0,0,0:25,34,28:114,116,122:21,12,22:-,NM_001159.3(AOX1) c.3799-124delA:-,NOT_FOUND:-,NOT_FOUND 2 201534466 . G . . NT END=201535351;NT GT ./. 2 201535403 . A . . NT END=201677030;NT GT ./. 2 201535646 rs2540065 C T 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=AOX1/NM_001159.3/1;CC=c.*244C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:112:13.06:0.00:13.06:1.00:0.00:1.00:60:47.2:0:0:92:58:17:NM_001159.3(AOX1) c.=,NM_001159.3(AOX1) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 2 201619757 rs563268698 TTG T,TTGTGTG 10 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=43 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:17:TTGTGTG,T:4:4:3:2:3,1:95,37:10.26,1.98:6.66,0.64:3.60,1.34:0.78,0.00:0.97,0.00:0.97,0.00:60,60:46.7,0.0:0,1:0,0:91,28:60,121:1,22:NR_001557.4(AOX2P) n.1958+144_1958+145delTG,NR_001557.4(AOX2P) n.1958+144TG[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 201676768 rs540042940 G A 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;PC=0.624;Gene=LOC101927795/NR_110275.1/0;VC=NonCoding;Gene=BZW1/NM_001207067.1/0;CC=c.-11+55G>A;VC=Intron;Gene=BZW1/NM_014670.3/0;CC=c.-11+55G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,G:12:12:0:0:10,2:332,67:35.62,0.00:35.62,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.2,0.0:0,0:0,0:57,126:92,24:42,15:NM_001207068.1(BZW1) c.-75-u288G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 201677033 . G . . NT END=201677055;NT GT ./. 2 201677217 . G . . NT END=201677930;NT GT ./. 2 201678005 . G . . NT END=201680063;NT GT ./. 2 201680241 . G . . NT END=201680389;NT GT ./. 2 201680485 . G . . NT END=201681047;NT GT ./. 2 201681114 . G . . NT END=201681828;NT GT ./. 2 201681965 . G . . NT END=201682696;NT GT ./. 2 201682807 . G . . NT END=201682945;NT GT ./. 2 201683117 . G . . NT END=201683477;NT GT ./. 2 201683625 . G . . NT END=201684704;NT GT ./. 2 201683853 rs115798498 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=BZW1/NM_001207067.1/0;CC=c.966+229G>A;VC=Intron;Gene=BZW1/NM_014670.3/0;CC=c.858+337G>A;VC=Intron;Gene=BZW1/NM_001207069.1/0;CC=c.978+229G>A;VC=Intron;Gene=BZW1/NM_001207068.1/1;CC=c.1062+229G>A;VC=Intron;DM=BZW1/W2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:34.5:0:0:93:57:35:NM_001207068.1(BZW1) c.1062+229G>A,NM_001207068.1(BZW1) c.1062+229G>A:0.03,0.03:NOT_FOUND,NOT_FOUND 2 201684844 . G . . NT END=201685905;NT GT ./. 2 201686029 . G . . NT END=201686869;NT GT ./. 2 201686666 rs6705053 C T 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=BZW1/NM_001207067.1/0;CC=c.1229-204C>T;VC=Intron;Gene=BZW1/NM_014670.3/0;CC=c.1031-204C>T;VC=Intron;Gene=BZW1/NM_001207069.1/0;CC=c.1241-204C>T;VC=Intron;Gene=BZW1/NM_001207068.1/1;CC=c.1325-204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:161:18.48:18.48:0.00:1.00:1.00:0.00:60:32.2:0:0:45:106:6:NM_001207068.1(BZW1) c.1325-204C>T,NM_001207068.1(BZW1) c.1325-204C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 201686902 . A . . NT END=201718028;NT GT ./. 2 201718173 . C . . NT END=201718625;NT GT ./. 2 201718717 . C . . NT END=201719338;NT GT ./. 2 201719419 . C . . NT END=201719726;NT GT ./. 2 201719810 . C . . NT END=201721404;NT GT ./. 2 201721535 . C . . NT END=201721613;NT GT ./. 2 201721709 . C . . NT END=201722440;NT GT ./. 2 201722608 . C . . NT END=201722695;NT GT ./. 2 201722813 . C . . NT END=201724402;NT GT ./. 2 201725217 rs567191952 TA T 26 idl,rn VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=8;Gene=CLK1/NM_001162407.1/1;CC=c.517-280delT;VC=Intron;Gene=CLK1/NM_004071.3/0;CC=c.391-280delT;VC=Intron;Gene=CLK1/NR_027855.1/0;VC=NonCoding;Gene=CLK1/NR_027856.1/0;VC=NonCoding;DM=CLK1/Pkinase;DM=CLK1/Pkinase;DM=CLK1/Pkinase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:80:44:5:14:1,64,4,11:9,1923,159,446:-0.24,0.00,8.38,26.36:-0.15,0.00,4.22,10.32:-0.09,0.00,4.16,16.04:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:51.0,13.1,9.0,16.3:0,0,1,3:0,0,0,0:25,55,47,89:126,88,81,51:0,37,32,28:-,NM_001162407.1(CLK1) c.517-280delT:-,NOT_FOUND:-,NOT_FOUND 2 201726190 . C . . NT END=201726424;NT GT ./. 2 201726586 . C . . NT END=201728823;NT GT ./. 2 201728950 . C . . NT END=201736117;NT GT ./. 2 201736245 . C . . NT END=201741641;NT GT ./. 2 201741761 . C . . NT END=201746143;NT GT ./. 2 201746212 . C . . NT END=201747064;NT GT ./. 2 201747159 . C . . NT END=201750420;NT GT ./. 2 201750496 . C . . NT END=201752335;NT GT ./. 2 201752339 . T . . NT END=201756666;NT GT ./. 2 201757103 . G . . NT END=201757968;NT GT ./. 2 201758132 . G . . NT END=201759986;NT GT ./. 2 201760114 . G . . NT END=201761798;NT GT ./. 2 201761938 . G . . NT END=201764107;NT GT ./. 2 201764192 . G . . NT END=201768216;NT GT ./. 2 201768402 . T . . NT END=201776023;NT GT ./. 2 201776111 . C . . NT END=201778017;NT GT ./. 2 201778716 . C . . NT END=201784944;NT GT ./. 2 201778717 rs201460825 T TA 33 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=17;NP=65;PC=1.000;Gene=ORC2/NM_006190.4/1;CC=c.1467-3dupT;VC=Intron;Gene=ORC2/NR_033915.1/0;VC=NonCoding;DM=ORC2/ORC2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA,D:33:12:15:2:1,18,12,2:10,514,448,61:0.02,0.00,33.16,4.11:-0.08,0.00,2.96,-0.16:0.10,0.00,30.20,4.27:0.00,0.00,1.00,0.00:0.00,0.00,0.80,0.00:0.00,0.00,1.00,0.00:60,60,60,60:23.0,14.8,13.3,0.0:0,1,3,0:0,0,0,0:16,104,84,47:135,37,67,103:0,41,25,20:-,NM_006190.4(ORC2) c.1467-3_1467-2insT:-,NOT_FOUND:-,NOT_FOUND 2 201785117 . C . . NT END=201785715;NT GT ./. 2 201785863 . C . . NT END=201790558;NT GT ./. 2 201790656 . C . . NT END=201791490;NT GT ./. 2 201791624 . C . . NT END=201796061;NT GT ./. 2 201796172 . C . . NT END=201798598;NT GT ./. 2 201798698 . C . . NT END=201800421;NT GT ./. 2 201800616 . C . . NT END=201802628;NT GT ./. 2 201802690 . C . . NT END=201805970;NT GT ./. 2 201806003 . C . . NT END=201807407;NT GT ./. 2 201807501 . C . . NT END=201814276;NT GT ./. 2 201814367 . C . . NT END=201822123;NT GT ./. 2 201822268 . C . . NT END=201822752;NT GT ./. 2 201822847 . T . . NT END=201845992;NT GT ./. 2 201846595 . C . . NT END=201852087;NT GT ./. 2 201852256 . C . . NT END=201852984;NT GT ./. 2 201853145 . C . . NT END=201857003;NT GT ./. 2 201857092 . C . . NT END=201857609;NT GT ./. 2 201857727 . C . . NT END=201862167;NT GT ./. 2 201862264 . C . . NT END=201873695;NT GT ./. 2 201873812 . C . . NT END=201876114;NT GT ./. 2 201876196 . C . . NT END=201881713;NT GT ./. 2 201881894 . C . . NT END=201886781;NT GT ./. 2 201881948 rs34735439 GT G 11 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=5;PC=0.414;Gene=FAM126B/NM_173822.3/1;CC=c.154-56delA;VC=Intron;DM=FAM126B/Hyccin;DM=FAM126B/Hyccin;DM=FAM126B/Hyccin;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:GT,I,G:44:12:4:5:35,4,5:1098,119,152:0.00,8.20,11.04:0.00,-0.25,4.04:0.00,8.45,7.00:0.00,0.00,0.75:0.00,0.00,0.69:0.00,0.00,0.97:60,60,70:20.3,19.2,29.2:0,0,0:0,0,0:112,75,115:36,75,35:22,42,2:-,NM_173822.3(FAM126B) c.154-56delA:-,NOT_FOUND:-,NOT_FOUND 2 201886838 . C . . NT END=201887553;NT GT ./. 2 201887656 . C . . NT END=201888681;NT GT ./. 2 201888733 . T . . NT END=201943605;NT GT ./. 2 201928485 rs10206365 A G 647 nt VT=SNV;PN=C;NN=T;SST=Single;DP=180;DB;DBA=NA;PAF=NA;Gene=FAM126B/NM_173822.3/1;CC=c.-129+7848T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:180:118:0:0:179,1:5624,11:646.83,0.08:319.70,0.08:327.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,77.0:0,0:0,0:57,80:91,49:32,0:NM_173822.3(FAM126B) c.-129+7848T>C,NM_173822.3(FAM126B) c.-129+7848T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 201943746 . G . . NT END=201950181;NT GT ./. 2 201950166 rs556181674 C CT 6 rn VT=INS;SST=Single;DP=38;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=73;PC=0.001;Gene=NDUFB3/NM_001257102.1/0;CC=c.141-5dupT;VC=Intron;Gene=NDUFB3/NM_002491.2/1;CC=c.141-5dupT;VC=Intron;DM=NDUFB3/NDUF_B12;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,CT,D:38:33:3:2:33,3,2:1092,94,65:0.00,6.35,4.13:0.00,4.13,4.33:0.00,2.22,-0.20:0.00,0.38,0.00:0.00,0.83,0.00:0.00,0.59,0.00:60,60,60:24.5,20.0,24.5:0,0,0:0,0,0:56,79,65:85,72,85:33,28,49:-,NM_002491.2(NDUFB3) c.141-16_141-15insT:-,NOT_FOUND:-,NOT_FOUND 2 201950339 . A . . NT END=201994588;NT GT ./. 2 201994870 . G . . NT END=201997687;NT GT ./. 2 201997858 . G . . NT END=202000694;NT GT ./. 2 202000831 . G . . NT END=202000920;NT GT ./. 2 202001321 . C . . NT END=202004997;NT GT ./. 2 202004806 rs397709792 G GC 39 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;PC=0.310;Gene=CFLAR/NM_001127184.2/0;CC=c.524-273dupC;VC=Intron;Gene=CFLAR/NM_001202516.1/0;CC=c.524-273dupC;VC=Intron;Gene=CFLAR/NM_001202517.1/0;CC=c.236-273dupC;VC=Intron;Gene=CFLAR/NM_001202519.1/0;CC=c.236-273dupC;VC=Intron;Gene=CFLAR/NM_003879.5/1;CC=c.524-273dupC;VC=Intron;Gene=CFLAR/NM_001127183.2/0;CC=c.524-273dupC;VC=Intron;Gene=CFLAR/NM_001308042.1/0;CC=c.524-273dupC;VC=Intron;Gene=CFLAR/NM_001202518.1/0;CC=c.236-273dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:GC:11:11:11:0:11:336:38.84:38.84:0.00:1.00:1.00:0.00:60:14.2:0:0:84:67:40:NM_003879.5(CFLAR) c.524-274_524-273insC,NM_003879.5(CFLAR) c.524-274_524-273insC:1,1:NOT_FOUND,NOT_FOUND 2 202005163 . G . . NT END=202006296;NT GT ./. 2 202006324 . t . . NT END=202010100;NT GT ./. 2 202006425 rs55941675 AGT A 50 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=149;PC=0.001;Gene=CFLAR/NM_001202516.1/0;CC=c.606+1266_606+1267delGT;VC=Intron;Gene=CFLAR/NM_001202517.1/0;CC=c.318+1266_318+1267delGT;VC=Intron;Gene=CFLAR/NM_001202519.1/0;CC=c.318+1266_318+1267delGT;VC=Intron;Gene=CFLAR/NM_003879.5/1;CC=c.606+1266_606+1267delGT;VC=Intron;Gene=CFLAR/NM_001127183.2/0;CC=c.606+1266_606+1267delGT;VC=Intron;Gene=CFLAR/NM_001308042.1/0;CC=c.606+1266_606+1267delGT;VC=Intron;Gene=CFLAR/NM_001202518.1/0;CC=c.318+1266_318+1267delGT;VC=Intron;Gene=CFLAR/NM_001202515.1/0;CC=c.-130+1266_-130+1267delGT;VC=Intron;Gene=CFLAR-AS1/NR_040030.1/0;VC=NonCoding;DM=CFLAR/GVQW;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGT,A:36:13:0:17:20,16:651,528:0.00,49.70:0.00,10.41:0.00,39.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,0.9:0,0:0,0:93,102:57,33:34,27:-,NM_003879.5(CFLAR) c.606+1264_606+1265delGT:-,0.89:-,NOT_FOUND 2 202010156 . G . . NT END=202013725;NT GT ./. 2 202013776 . G . . NT END=202014476;NT GT ./. 2 202014559 . G . . NT END=202025154;NT GT ./. 2 202025131 rs2518142 G A 82 nt VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=CFLAR/NM_001202516.1/0;CC=c.689-24G>A;VC=Intron;Gene=CFLAR/NM_001202517.1/0;CC=c.506-24G>A;VC=Intron;Gene=CFLAR/NM_001202519.1/0;CC=c.506-24G>A;VC=Intron;Gene=CFLAR/NM_003879.5/1;CC=c.794-24G>A;VC=Intron;Gene=CFLAR/NM_001127183.2/0;CC=c.794-24G>A;VC=Intron;Gene=CFLAR/NM_001308042.1/0;CC=c.794-24G>A;VC=Intron;Gene=CFLAR/NM_001202518.1/0;CC=c.506-24G>A;VC=Intron;Gene=CFLAR/NM_001202515.1/0;CC=c.59-24G>A;VC=Intron;DM=CFLAR/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:57:0:0:27,39:886,1178:82.10,0.00:57.20,0.00:24.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,8.4:0,0:0,0:50,46:100,104:30,28:NM_003879.5(CFLAR) c.794-24G>A,-:0.87,-:0.887342,- 2 202025666 . G . . NT END=202027952;NT GT ./. 2 202028697 . G . . NT END=202050500;NT GT ./. 2 202050848 . G . . NT END=202052428;NT GT ./. 2 202052523 . G . . NT END=202057706;NT GT ./. 2 202057843 . G . . NT END=202060564;NT GT ./. 2 202060672 . G . . NT END=202065165;NT GT ./. 2 202065452 . C . . NT END=202068452;NT GT ./. 2 202068490 . G . . NT END=202070604;NT GT ./. 2 202070697 . G . . NT END=202072797;NT GT ./. 2 202072907 . G . . NT END=202073012;NT GT ./. 2 202073173 . a . . NT END=202073792;NT GT ./. 2 202073764 rs377760707 CT C 17 idl,rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=5;PC=0.143;Gene=CASP10/NM_001206524.1/0;CC=c.722-13delT;VC=Intron;Gene=CASP10/NM_001230.4/0;CC=c.794-13delT;VC=Intron;Gene=CASP10/NM_032976.3/0;CC=c.*9-13delT;VC=Intron;Gene=CASP10/NM_032977.3/1;CC=c.923-13delT;VC=Intron;Gene=CASP10/NM_001206542.1/0;CC=c.794-13delT;VC=Intron;Gene=CASP10/NM_032974.4/0;CC=c.923-13delT;VC=Intron;DM=CASP10/Peptidase_C14;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:CT,T,I,C:51:42:5:12:38,2,4,7:1243,64,154,292:0.00,3.87,8.23,17.25:0.00,2.00,7.04,8.34:0.00,1.87,1.19,8.91:0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.90:60,60,60,60:54.5,51.0,68.2,10.4:1,1,1,2:0,0,0,0:48,71,32,43:94,65,117,108:23,34,11,40:-,NM_032977.3(CASP10) c.923-28delT:-,NOT_FOUND:-,NOT_FOUND 2 202073781 rs201904750 G T 10 sb;idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=366;PC=0.318;Gene=CASP10/NM_001206524.1/0;CC=c.722-12G>T;VC=Intron;Gene=CASP10/NM_001230.4/0;CC=c.794-12G>T;VC=Intron;Gene=CASP10/NM_032976.3/0;CC=c.*9-12G>T;VC=Intron;Gene=CASP10/NM_032977.3/1;CC=c.923-12G>T;VC=Intron;Gene=CASP10/NM_001206542.1/0;CC=c.794-12G>T;VC=Intron;Gene=CASP10/NM_032974.4/0;CC=c.923-12G>T;VC=Intron;DM=CASP10/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:G,T:52:35:0:5:40,12:1162,163:0.00,9.90:0.00,12.18:0.00,-2.28:0.00,1.00:0.00,1.00:0.00,0.99:60,60:28.0,74.8:0,0:0,0:28,64:110,68:19,25:-,NM_032977.3(CASP10) c.923-12G>T:-,NOT_FOUND:-,NOT_FOUND 2 202074286 . G . . NT END=202082310;NT GT ./. 2 202082666 . t . . NT END=202082923;NT GT ./. 2 202083059 . t . . NT END=202083304;NT GT ./. 2 202083733 . c . . NT END=202084132;NT GT ./. 2 202084428 rs546372536 CT C 30 idl,rn VT=DEL;SST=Single;DP=101;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.835;Gene=CASP10/NM_001206524.1/0;CC=c.*1982delT;VC=3UTR;Gene=CASP10/NM_001230.4/0;CC=c.*1982delT;VC=3UTR;Gene=CASP10/NM_032976.3/0;CC=c.*2637delT;VC=3UTR;Gene=CASP10/NM_032977.3/1;CC=c.*1982delT;VC=3UTR;Gene=CASP10/NM_001206542.1/0;CC=c.1287-9210delT;VC=Intron;Gene=CASP10/NM_032974.4/0;CC=c.1416-9210delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:CT,T,I,C:92:52:14:18:68,3,9,12:2085,59,423,512:0.00,2.21,18.91,30.21:0.00,-0.42,8.00,12.26:0.00,2.64,10.91,17.95:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:32.2,86.0,87.3,47.8:0,1,5,4:0,0,0,0:114,93,61,56:27,58,71,94:27,4,30,29:-,NM_032977.3(CASP10) c.*1965T[17]:-,NOT_FOUND:-,NOT_FOUND 2 202084908 . t . . NT END=202085443;NT GT ./. 2 202086049 . t . . NT END=202093655;NT GT ./. 2 202093807 . T . . NT END=202122954;NT GT ./. 2 202122995 rs3769823 A G 210 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=0.990;Gene=CASP8/NM_033358.3/0;CC=c.-26-8189A>G;VC=Intron;Gene=CASP8/NM_001080124.1/0;CC=c.-26-8189A>G;VC=Intron;Gene=CASP8/NM_001228.4/1;CC=c.-26-8189A>G;VC=Intron;Gene=CASP8/NM_033355.3/0;CC=c.1-8215A>G;VC=Intron;Gene=CASP8/NM_001080125.1/0;CC=c.41A>G;ProtCh=p.K14R;VC=Missense;Gene=CASP8/NR_111983.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:117:88:0:0:53,64:1603,2145:0.00,210.09:0.00,118.16:0.00,91.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,41.2:0,0:0,0:63,69:88,74:52,26:-,NM_001228.4(CASP8) c.-26-8189A>G:-,0.65:-,0.669471 2 202123106 . G . . NT END=202125222;NT GT ./. 2 202125337 . G . . NT END=202131183;NT GT ./. 2 202131515 . G . . NT END=202134232;NT GT ./. 2 202131587 rs2293554 T G 64 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=CASP8/NM_033358.3/0;CC=c.305+73T>G;VC=Intron;Gene=CASP8/NM_001080124.1/0;CC=c.305+73T>G;VC=Intron;Gene=CASP8/NM_001228.4/1;CC=c.305+73T>G;VC=Intron;Gene=CASP8/NM_033355.3/0;CC=c.305+73T>G;VC=Intron;Gene=CASP8/NM_001080125.1/0;CC=c.482+73T>G;VC=Intron;Gene=CASP8/NR_111983.1/0;VC=NonCoding;Gene=CASP8/NM_033356.3/0;CC=c.305+73T>G;VC=Intron;DM=CASP8/Peptidase_C14;DM=CASP8/DED;DM=CASP8/DED;DM=CASP8/DED;DM=CASP8/DED GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:37:9:0:0:20,17:651,540:63.55,0.00:10.91,0.00:52.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,3.6:0,0:0,0:130,123:19,28:15,24:NM_001228.4(CASP8) c.305+73T>G,-:0.2,-:NOT_FOUND,- 2 202134329 . G . . NT END=202136238;NT GT ./. 2 202136345 . G . . NT END=202137360;NT GT ./. 2 202137500 . G . . NT END=202137620;NT GT ./. 2 202137666 . G . . NT END=202139611;NT GT ./. 2 202139677 . G . . NT END=202141549;NT GT ./. 2 202139739 rs397869100 C CT 10 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;Gene=CASP8/NM_033358.3/0;CC=c.596-1797dupT;VC=Intron;Gene=CASP8/NM_001080124.1/0;CC=c.615+77dupT;VC=Intron;Gene=CASP8/NM_001228.4/1;CC=c.711+77dupT;VC=Intron;Gene=CASP8/NM_033355.3/0;CC=c.660+77dupT;VC=Intron;Gene=CASP8/NM_001080125.1/0;CC=c.837+77dupT;VC=Intron;Gene=CASP8/NR_111983.1/0;VC=NonCoding;Gene=CASP8/NM_033356.3/0;CC=c.615+77dupT;VC=Intron;DM=CASP8/Peptidase_C14;DM=CASP8/Peptidase_C14;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,CT,D:20:3:6:2:14,4,2:415,183,53:0.00,10.03,3.61:0.00,-0.26,-0.12:0.00,10.29,3.73:0.00,0.70,0.00:0.00,0.50,0.00:0.00,0.95,0.00:60,60,60:14.9,0.0,69.0:0,2,0:0,0,0:119,120,117:31,30,29:23,6,5:-,NM_001228.4(CASP8) c.711+63_711+64insT:-,NOT_FOUND:-,NOT_FOUND 2 202141338 . C G 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;PC=0.002;Gene=CASP8/NM_033358.3/0;CC=c.596-212C>G;VC=Intron;Gene=CASP8/NM_001080124.1/0;CC=c.616-212C>G;VC=Intron;Gene=CASP8/NM_001228.4/1;CC=c.712-212C>G;VC=Intron;Gene=CASP8/NM_033355.3/0;CC=c.661-212C>G;VC=Intron;Gene=CASP8/NM_001080125.1/0;CC=c.838-212C>G;VC=Intron;Gene=CASP8/NR_111983.1/0;VC=NonCoding;Gene=CASP8/NM_033356.3/0;CC=c.616-212C>G;VC=Intron;DM=CASP8/Peptidase_C14;DM=CASP8/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:C,G:8:8:0:0:2,6:69,169:0.00,17.77:0.00,17.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,38.0:0,0:0,0:35,15:115,135:11,3:-,NM_001228.4(CASP8) c.712-212C>G:-,NOT_FOUND:-,NOT_FOUND 2 202141715 . a . . NT END=202146555;NT GT ./. 2 202146639 . A . . NT END=202149538;NT GT ./. 2 202146838 rs7585741 A G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=149;Gene=CASP8/NM_001080124.1/0;CC=c.758-2701A>G;VC=Intron;Gene=CASP8/NM_001228.4/1;CC=c.854-2701A>G;VC=Intron;Gene=CASP8/NM_033355.3/0;CC=c.803-2701A>G;VC=Intron;Gene=CASP8/NM_001080125.1/0;CC=c.980-2701A>G;VC=Intron;Gene=CASP8/NR_111983.1/0;VC=NonCoding;Gene=CASP8/NM_033356.3/0;CC=c.758-2701A>G;VC=Intron;DM=CASP8/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G:6:0:0:0:1,5:33,172:0.00,18.41:0.00,0.00:0.00,18.41:0.00,0.99:0.00,0.00:0.00,0.99:40,40:0.0,49.4:0,0:0,0:94,123:57,27:0,19:-,NM_001228.4(CASP8) c.854-2701A>G:-,NOT_FOUND:-,NOT_FOUND 2 202149696 rs1045487 G A 128 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.947;Gene=CASP8/NM_001080124.1/0;CC=c.915G>A;ProtCh=p.K305=;VC=Silent;Gene=CASP8/NM_001228.4/1;CC=c.1011G>A;ProtCh=p.K337=;VC=Silent;Gene=CASP8/NM_033355.3/0;CC=c.960G>A;ProtCh=p.K320=;VC=Silent;Gene=CASP8/NM_001080125.1/0;CC=c.1137G>A;ProtCh=p.K379=;VC=Silent;Gene=CASP8/NR_111983.1/0;VC=NonCoding;Gene=CASP8/NM_033356.3/0;CC=c.915G>A;ProtCh=p.K305=;VC=Silent;DM=CASP8/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:48:0:0:39,39:1330,1245:128.16,0.00:56.95,0.00:71.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,7.1:0,0:0,0:56,64:93,83:27,51:NM_001228.4(CASP8) c.1011G>A (p.(=)),-:0.15,-:0.106182,- 2 202150041 . G . . NT END=202151181;NT GT ./. 2 202151163 rs3769818 A G 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=CASP8/NM_001080124.1/0;CC=c.1260-19A>G;VC=Intron;Gene=CASP8/NM_001228.4/1;CC=c.1356-19A>G;VC=Intron;Gene=CASP8/NM_033355.3/0;CC=c.1305-19A>G;VC=Intron;Gene=CASP8/NM_001080125.1/0;CC=c.1482-19A>G;VC=Intron;Gene=CASP8/NR_111983.1/0;VC=NonCoding;Gene=CASP8/NM_033356.3/0;CC=c.1260-19A>G;VC=Intron;DM=CASP8/Peptidase_C14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:40:0:0:31,24:982,763:0.00,71.34:0.00,49.01:0.00,22.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,40.8:0,0:0,0:76,65:68,58:34,35:-,NM_001228.4(CASP8) c.1356-19A>G:-,0.69:-,0.742888 2 202151318 . T . . NT END=202153377;NT GT ./. 2 202151439 rs3185378 G C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=CASP8/NM_001080124.1/0;CC=c.*122G>C;VC=3UTR;Gene=CASP8/NM_001228.4/1;CC=c.*122G>C;VC=3UTR;Gene=CASP8/NM_033355.3/0;CC=c.*122G>C;VC=3UTR;Gene=CASP8/NM_001080125.1/0;CC=c.*122G>C;VC=3UTR;Gene=CASP8/NR_111983.1/0;VC=NonCoding;Gene=CASP8/NM_033356.3/0;CC=c.*122G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,G:23:1:0:0:7,16:200,513:17.19,0.00:-0.16,0.00:17.35,0.00:0.97,0.00:0.54,0.00:1.00,0.00:60,60:30.3,5.3:0,0:0,0:101,90:49,59:18,37:NM_001228.4(CASP8) c.*122G>C,-:0.56,-:NOT_FOUND,- 2 202153225 rs700635 C A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ALS2CR12/NM_001127391.2/0;CC=c.*153G>T;VC=3UTR;Gene=ALS2CR12/NM_001289993.1/0;CC=c.*153G>T;VC=3UTR;Gene=ALS2CR12/NM_139163.3/1;CC=c.*153G>T;VC=3UTR;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:150:A,C,T:14:14:0:0:5,8,1:152,256,11:13.82,0.00,0.28:13.82,0.00,0.28:0.00,0.00,0.00:0.90,0.00,0.00:0.90,0.00,0.00:0.00,0.00,0.00:60,60,60:61.8,7.6,11.0:0,0,0:0,0,0:70,45,131:81,106,17:14,18,0:NM_139163.2(ALS2CR12) c.*153G>T,-:0.69,-:NOT_FOUND,- 2 202153392 rs137938931 C T 71 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.275;Gene=ALS2CR12/NM_001127391.2/0;CC=c.1255G>A;ProtCh=p.G419R;VC=Missense;Gene=ALS2CR12/NM_001289993.1/0;CC=c.1255G>A;ProtCh=p.G419R;VC=Missense;Gene=ALS2CR12/NM_139163.3/1;CC=c.1324G>A;ProtCh=p.G442R;VC=Missense;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:39:0:0:28,23:887,748:0.00,70.51:0.00,48.88:0.00,21.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,44.3:0,0:0,0:48,79:102,65:36,39:-,NM_139163.2(ALS2CR12) c.1324G>A (p.Gly442Arg):-,NOT_FOUND:-,0.000154 2 202153399 . GC G 61 PASS VT=DEL;SST=Single;DP=50;Gene=ALS2CR12/NM_001127391.2/0;CC=c.1247delG;ProtCh=p.S416Tfs*16;VC=FrameShiftDel;Gene=ALS2CR12/NM_001289993.1/0;CC=c.1247delG;ProtCh=p.S416Tfs*16;VC=FrameShiftDel;Gene=ALS2CR12/NM_139163.3/1;CC=c.1316delG;ProtCh=p.S439Tfs*16;VC=FrameShiftDel;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GC,G:50:39:0:21:2,27,21:17,884,650:-0.02,0.00,60.74:-0.09,0.00,43.76:0.07,0.00,16.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:149.5,3.1,42.3:0,0,0:0,0,0:115,53,85:31,98,64:10,34,38:-,NM_139163.2(ALS2CR12) c.1316delG (p.Ser439Thrfs*16):-,NOT_FOUND:-,0.00016 2 202153505 . C . . NT END=202154179;NT GT ./. 2 202153684 rs6714430 C T 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=ALS2CR12/NM_001127391.2/0;CC=c.1143-180G>A;VC=Intron;Gene=ALS2CR12/NM_001289993.1/0;CC=c.1143-180G>A;VC=Intron;Gene=ALS2CR12/NM_139163.3/1;CC=c.1212-180G>A;VC=Intron;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,T:17:0:0:0:6,11:160,348:0.00,35.33:0.00,0.00:0.00,35.33:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.5,40.1:0,0:0,0:90,119:59,32:19,17:-,NM_139163.2(ALS2CR12) c.1212-180G>A:-,0.69:-,NOT_FOUND 2 202153920 rs6743068 A G 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ALS2CR12/NM_001127391.2/0;CC=c.1142+260T>C;VC=Intron;Gene=ALS2CR12/NM_001289993.1/0;CC=c.1142+260T>C;VC=Intron;Gene=ALS2CR12/NM_139163.3/1;CC=c.1211+260T>C;VC=Intron;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G:4:4:0:0:1,3:35,78:0.00,8.23:0.00,8.23:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,43.0:0,0:0,0:111,31:40,120:0,17:-,NM_139163.2(ALS2CR12) c.1211+260T>C:-,0.69:-,NOT_FOUND 2 202154290 . C . . NT END=202154418;NT GT ./. 2 202154578 . C . . NT END=202163960;NT GT ./. 2 202154750 rs79224392 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ALS2CR12/NM_001127391.2/0;CC=c.943-242C>T;VC=Intron;Gene=ALS2CR12/NM_001289993.1/0;CC=c.943-242C>T;VC=Intron;Gene=ALS2CR12/NM_139163.3/1;CC=c.943-173C>T;VC=Intron;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,C,G:15:0:0:0:5,1,9:169,12,272:15.32,0.32,0.00:0.00,0.00,0.00:15.32,0.32,0.00:0.89,0.00,0.00:0.00,0.00,0.00:0.89,0.00,0.00:60,60,60:33.8,108.0,33.9:0,0,0:0,0,0:113,43,88:38,108,63:3,0,20:NM_139163.2(ALS2CR12) c.943-173C>T,-:0.02,-:NOT_FOUND,- 2 202164024 . C . . NT END=202172241;NT GT ./. 2 202172346 . C . . NT END=202173873;NT GT ./. 2 202173974 . C . . NT END=202195192;NT GT ./. 2 202195030 rs1406121 T C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ALS2CR12/NM_001127391.2/0;CC=c.675+163A>G;VC=Intron;Gene=ALS2CR12/NM_001289993.1/0;CC=c.675+163A>G;VC=Intron;Gene=ALS2CR12/NM_139163.3/1;CC=c.675+163A>G;VC=Intron;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:11:11:0:0:6,5:203,166:19.87,0.00:19.87,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:40.2,2.4:0,0:0,0:42,71:109,80:38,49:NM_139163.2(ALS2CR12) c.675+163A>G,-:0.39,-:NOT_FOUND,- 2 202195246 . C . . NT END=202195458;NT GT ./. 2 202195557 . C . . NT END=202207092;NT GT ./. 2 202207155 . C . . NT END=202208892;NT GT ./. 2 202208987 . C . . NT END=202211264;NT GT ./. 2 202211399 . C . . NT END=202212976;NT GT ./. 2 202211443 rs1406122 C T 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.103;Gene=ALS2CR12/NM_001127391.2/0;CC=c.235-45G>A;VC=Intron;Gene=ALS2CR12/NM_001289993.1/0;CC=c.235-45G>A;VC=Intron;Gene=ALS2CR12/NM_139163.3/1;CC=c.235-45G>A;VC=Intron;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:18:0:0:32,20:1090,652:0.00,59.70:0.00,13.86:0.00,45.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.5,34.2:0,0:0,0:84,70:65,76:33,34:-,NM_139163.2(ALS2CR12) c.235-45G>A:-,0.48:-,0.508919 2 202213026 . C . . NT END=202215433;NT GT ./. 2 202215409 rs71022364 C CAAAACAAAACAAAACAA 20 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.031;Gene=ALS2CR12/NM_001127391.2/0;CC=c.185+24_185+25insTTGTTTTGTTTTGTTTT;VC=Intron;Gene=ALS2CR12/NM_001289993.1/0;CC=c.185+24_185+25insTTGTTTTGTTTTGTTTT;VC=Intron;Gene=ALS2CR12/NM_139163.3/1;CC=c.185+24_185+25insTTGTTTTGTTTTGTTTT;VC=Intron;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CAAAACAAAACAAAACAA:26:23:7:0:18,1,7:591,11,233:0.00,0.06,20.20:0.00,0.17,17.83:0.00,-0.11,2.37:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.95:60,60,60:2.9,11.0,26.7:0,0,0:0,0,0:59,16,30:89,135,119:37,0,12:-,NM_139163.2(ALS2CR12) c.185+24_185+25insTTGTTTTGTTTTGTTTT:-,NOT_FOUND:-,NOT_FOUND 2 202215492 rs13014235 C G 63 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ALS2CR12/NM_001127391.2/0;CC=c.127G>C;ProtCh=p.V43L;VC=Missense;Gene=ALS2CR12/NM_001289993.1/0;CC=c.127G>C;ProtCh=p.V43L;VC=Missense;Gene=ALS2CR12/NM_139163.3/1;CC=c.127G>C;ProtCh=p.V43L;VC=Missense;Gene=ALS2CR12/NR_110620.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:44:32:0:0:24,19,1:784,666,9:0.00,62.86,-0.08:0.00,30.22,-0.11:0.00,32.64,0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:3.1,37.9,22.0:0,0,0:0,0,0:83,77,30:54,43,120:28,39,0:-,NM_139163.2(ALS2CR12) c.127G>C (p.Val43Leu):-,0.65:-,0.646086 2 202215506 . C . . NT END=202216014;NT GT ./. 2 202216128 . G . . NT END=202245265;NT GT ./. 2 202245244 rs3795966 A G 237 nt VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TRAK2/NM_015049.2/1;CC=c.*22T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:G:63:53:0:0:63:2066:236.58:175.68:60.89:1.00:1.00:1.00:60:40.4:0:0:48:102:30:NM_015049.2(TRAK2) c.*22T>C,NM_015049.2(TRAK2) c.*22T>C:0.53,0.53:0.57881,0.57881 2 202245942 . C . . NT END=202248833;NT GT ./. 2 202245944 rs398060953 TAA T 120 rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1978;PC=0.015;Gene=TRAK2/NM_015049.2/1;CC=c.2070-5_2070-4delTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAA,T:53:19:0:38:16,37:481,1197:0.00,119.84:0.00,29.51:0.00,90.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.3,46.1:0,1:0,0:138,94:11,54:5,18:-,NM_015049.2(TRAK2) c.2070-5_2070-4delTT:-,NOT_FOUND:-,NOT_FOUND 2 202245953 rs3731710 A G 18 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=33;Gene=TRAK2/NM_015049.2/1;CC=c.2070-12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:A,G:48:16:0:0:40,8:1313,235:0.00,17.95:0.00,4.09:0.00,13.86:0.00,0.96:0.00,0.89:0.00,1.00:60,60:44.8,50.2:38,0:0,0:101,145:47,6:18,2:-,NM_015049.2(TRAK2) c.2070-12T>C:-,NOT_FOUND:-,NOT_FOUND 2 202245955 rs72937131 A G 150 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=2651;Gene=TRAK2/NM_015049.2/1;CC=c.2070-14T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:48:15:0:0:7,41:184,1388:0.00,149.79:0.00,32.10:0.00,117.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.9,45.3:0,1:0,0:147,102:4,47:2,21:-,NM_015049.2(TRAK2) c.2070-14T>C:-,NOT_FOUND:-,NOT_FOUND 2 202246034 rs3731709 G C 55 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.004;Gene=TRAK2/NM_015049.2/1;CC=c.2070-93C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:21:0:0:0:21:456:54.99:0.00:54.99:1.00:0.00:1.00:60:53.0:0:0:77:74:35:NM_015049.2(TRAK2) c.2070-93C>G,NM_015049.2(TRAK2) c.2070-93C>G:0.47,0.47:NOT_FOUND,NOT_FOUND 2 202248788 rs7579617 T C 105 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.2069+46A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:28:0:0:29:915:105.25:89.19:16.06:1.00:1.00:1.00:60:39.5:0:0:39:110:30:NM_015049.2(TRAK2) c.2069+46A>G,NM_015049.2(TRAK2) c.2069+46A>G:0.53,0.53:0.572044,0.572044 2 202248940 . C . . NT END=202250940;NT GT ./. 2 202248979 rs7579853 T A 121 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.168;Gene=TRAK2/NM_015049.2/1;CC=c.1964-40A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:17:0:0:34:1046:120.71:38.96:81.76:1.00:1.00:1.00:60:41.3:0:0:118:31:19:NM_015049.2(TRAK2) c.1964-40A>T,NM_015049.2(TRAK2) c.1964-40A>T:0.54,0.54:0.579591,0.579591 2 202251208 . C . . NT END=202252425;NT GT ./. 2 202252725 . C . . NT END=202254022;NT GT ./. 2 202253716 rs2241118 G C 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.1397+307C>G;VC=Intron;DM=TRAK2/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:102:12.08:12.08:0.00:1.00:1.00:0.00:60:58.0:0:0:112:38:8:NM_015049.2(TRAK2) c.1397+307C>G,NM_015049.2(TRAK2) c.1397+307C>G:0.53,0.53:NOT_FOUND,NOT_FOUND 2 202254227 . C . . NT END=202254523;NT GT ./. 2 202254288 rs3214366 A AC 112 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=1;NP=2706;PC=0.003;Gene=TRAK2/NM_015049.2/1;CC=c.1194-63_1194-62insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,AC:39:8:33:0:6,33:167,1036:0.00,112.07:0.00,20.22:0.00,91.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.3,8.2:0,0:0,0:147,101:1,49:1,32:-,NM_015049.2(TRAK2) c.1194-63_1194-62insG:-,0.53:-,NOT_FOUND 2 202254604 . C . . NT END=202257631;NT GT ./. 2 202257770 . C . . NT END=202259520;NT GT ./. 2 202257930 rs3815515 C A 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.976-161G>T;VC=Intron;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:0:0:0:16:531:60.73:0.00:60.73:1.00:0.00:1.00:60:41.8:0:0:111:39:17:NM_015049.2(TRAK2) c.976-161G>T,NM_015049.2(TRAK2) c.976-161G>T:0.53,0.53:NOT_FOUND,NOT_FOUND 2 202259596 . C . . NT END=202260036;NT GT ./. 2 202259850 rs2110689 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.006;Gene=TRAK2/NM_015049.2/1;CC=c.900+187T>C;VC=Intron;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:4:0:0:7:219:25.20:15.91:9.30:1.00:1.00:1.00:60:40.1:0:0:81:70:21:NM_015049.2(TRAK2) c.900+187T>C,NM_015049.2(TRAK2) c.900+187T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 202260049 rs2256584 G A 191 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TRAK2/NM_015049.2/1;CC=c.888C>T;ProtCh=p.H296=;VC=Silent;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:A:52:43:0:0:52:1662:190.89:130.92:59.97:1.00:1.00:1.00:60:37.0:0:0:58:89:30:NM_015049.2(TRAK2) c.888C>T (p.(=)),NM_015049.2(TRAK2) c.888C>T (p.(=)):0.99,0.99:0.973551,0.973551 2 202260168 . C . . NT END=202262224;NT GT ./. 2 202262304 . C . . NT END=202262867;NT GT ./. 2 202262684 rs199922947 ATC A 18 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1279;Gene=TRAK2/NM_015049.2/1;CC=c.690+182_690+183delGA;VC=Intron;DM=TRAK2/HAP1_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:5:5:160:18.38:18.38:0.00:1.00:1.00:0.00:60:5.6:0:0:24:127:18:NM_015049.2(TRAK2) c.690+182_690+183delGA,NM_015049.2(TRAK2) c.690+182_690+183delGA:0.53,0.53:NOT_FOUND,NOT_FOUND 2 202263078 . C . . NT END=202264099;NT GT ./. 2 202263901 rs11681592 C G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.480+199G>C;VC=Intron;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.10:14.10:0.00:1.00:1.00:0.00:60:55.2:0:0:41:109:30:NM_015049.2(TRAK2) c.480+199G>C,NM_015049.2(TRAK2) c.480+199G>C:0.47,0.47:NOT_FOUND,NOT_FOUND 2 202264156 rs13022344 C T 230 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TRAK2/NM_015049.2/1;CC=c.424G>A;ProtCh=p.V142I;VC=Missense;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:T:63:50:0:0:63:2004:230.35:141.42:88.93:1.00:1.00:1.00:60:37.6:0:0:72:71:36:NM_015049.2(TRAK2) c.424G>A (p.Val142Ile),NM_015049.2(TRAK2) c.424G>A (p.Val142Ile):0.53,0.53:0.571659,0.571659 2 202264217 . C . . NT END=202265740;NT GT ./. 2 202264316 rs6732993 C T 90 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.040;Gene=TRAK2/NM_015049.2/1;CC=c.364-100G>A;VC=Intron;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:1:0:0:26:777:89.97:1.69:88.29:1.00:1.00:1.00:60:34.7:0:0:93:57:38:NM_015049.2(TRAK2) c.364-100G>A,NM_015049.2(TRAK2) c.364-100G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 2 202265818 . C . . NT END=202272125;NT GT ./. 2 202271991 rs11691859 T C 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.286+135A>G;VC=Intron;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:424:48.60:48.60:0.00:1.00:1.00:0.00:60:71.2:0:0:63:88:30:NM_015049.2(TRAK2) c.286+135A>G,NM_015049.2(TRAK2) c.286+135A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 2 202272032 rs11691865 T A 109 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.286+94A>T;VC=Intron;DM=TRAK2/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:29:0:0:29:956:109.43:105.50:3.93:1.00:1.00:1.00:60:52.3:0:0:35:116:28:NM_015049.2(TRAK2) c.286+94A>T,NM_015049.2(TRAK2) c.286+94A>T:0.53,0.53:NOT_FOUND,NOT_FOUND 2 202272321 . C . . NT END=202285139;NT GT ./. 2 202272482 rs66864304 G GT 24 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=320;PC=0.039;Gene=TRAK2/NM_015049.2/1;CC=c.92-163dupA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:G,GT:8:0:7:0:1,7:32,221:0.00,24.13:0.00,0.00:0.00,24.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,11.0:0,0:0,0:143,84:7,67:0,16:-,NM_015049.2(TRAK2) c.92-163_92-162insA:-,NOT_FOUND:-,NOT_FOUND 2 202275309 rs143543299 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.951;Gene=TRAK2/NM_015049.2/1;CC=c.92-2989T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:27:20:0:0:18,7,2:577,240,42:0.00,20.89,2.44:0.00,13.54,2.69:0.00,7.35,-0.25:0.00,0.96,0.00:0.00,0.99,0.00:0.00,0.96,0.00:60,60,60:15.9,43.3,96.0:0,0,0:0,0,0:62,79,122:78,72,26:28,26,9:-,NM_015049.2(TRAK2) c.92-2989T>C:-,0.02:-,NOT_FOUND 2 202284867 rs10497867 T C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.91+273A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:114:13.30:13.30:0.00:1.00:1.00:0.00:60:75.5:0:0:73:65:14:NM_015049.2(TRAK2) c.91+273A>G,NM_015049.2(TRAK2) c.91+273A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 202285100 rs4507084 A G 125 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=TRAK2/NM_015049.2/1;CC=c.91+40T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:30:0:0:34:1093:125.39:92.13:33.26:1.00:1.00:1.00:60:36.9:0:0:31:116:17:NM_015049.2(TRAK2) c.91+40T>C,NM_015049.2(TRAK2) c.91+40T>C:0.69,0.69:0.6833,0.6833 2 202285231 . G . . NT END=202319563;NT GT ./. 2 202319576 . G . . NT END=202323506;NT GT ./. 2 202323588 . G . . NT END=202334675;NT GT ./. 2 202334776 . G . . NT END=202337677;NT GT ./. 2 202337730 rs1019299 A G 240 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=1.000;Gene=STRADB/NM_001206864.1/0;CC=c.246A>G;ProtCh=p.T82=;VC=Silent;Gene=STRADB/NM_018571.5/1;CC=c.246A>G;ProtCh=p.T82=;VC=Silent;DM=STRADB/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:59:0:0:68:2073:239.53:148.77:90.77:1.00:1.00:1.00:60:31.2:0:0:67:77:40:NM_018571.5(STRADB) c.246A>G (p.(=)),NM_018571.5(STRADB) c.246A>G (p.(=)):0.61,0.61:0.669537,0.669537 2 202337800 . G . . NT END=202339369;NT GT ./. 2 202339479 . G . . NT END=202340341;NT GT ./. 2 202340466 . G . . NT END=202342341;NT GT ./. 2 202342402 rs12990557 G T 339 lc VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=1.000;Gene=STRADB/NM_001206864.1/0;CC=c.609G>T;ProtCh=p.L203=;VC=Silent;Gene=STRADB/NM_018571.5/1;CC=c.609G>T;ProtCh=p.L203=;VC=Silent;DM=STRADB/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:93:71:0:0:93:2950:339.21:194.55:144.66:1.00:1.00:1.00:60:38.4:0:0:70:80:37:NM_018571.5(STRADB) c.609G>T (p.(=)),NM_018571.5(STRADB) c.609G>T (p.(=)):0.47,0.47:0.484228,0.484228 2 202342514 . G . . NT END=202342809;NT GT ./. 2 202342737 rs10460403 A G 128 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.943;Gene=STRADB/NM_001206864.1/0;CC=c.721-73A>G;VC=Intron;Gene=STRADB/NM_018571.5/1;CC=c.721-73A>G;VC=Intron;DM=STRADB/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A,G:39:24:0:0:1,38:11,1118:0.00,127.92:0.00,68.17:0.00,59.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:76.0,38.0:0,0:0,0:40,56:83,93:0,40:NM_018571.5(STRADB) c.721-73A>G,NM_018571.5(STRADB) c.721-73A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 202342915 . G . . NT END=202343079;NT GT ./. 2 202343325 . G . . NT END=202344211;NT GT ./. 2 202344179 rs397987340 GT G 119 rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2804;PC=0.001;Gene=STRADB/NM_001206864.1/0;CC=c.1071-23delT;VC=Intron;Gene=STRADB/NM_018571.5/1;CC=c.1071-23delT;VC=Intron;DM=STRADB/Pkinase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:GT,G:37:29:0:34:3,34:80,1073:0.00,119.00:0.00,62.15:0.00,56.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,5.8:0,0:0,0:126,42:24,106:20,26:NM_018571.5(STRADB) c.1071-32delT,NM_018571.5(STRADB) c.1071-32delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 202344255 . G . . NT END=202344730;NT GT ./. 2 202344423 . C T 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;NP=2;Gene=STRADB/NM_001206864.1/0;CC=c.1113+169C>T;VC=Intron;Gene=STRADB/NM_018571.5/1;CC=c.1113+169C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,T:10:3:0:0:5,5:149,145:0.00,13.88:0.00,4.74:0.00,9.13:0.00,1.00:0.00,0.89:0.00,0.99:60,60:6.6,43.4:0,0:0,0:53,120:98,31:22,14:-,NM_018571.5(STRADB) c.1113+169C>T:-,NOT_FOUND:-,NOT_FOUND 2 202345476 rs2110748 C A 241 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=STRADB/NM_001206864.1/0;CC=c.*725C>A;VC=3UTR;Gene=STRADB/NM_018571.5/1;CC=c.*578C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:39:0:0:67:2094:241.25:107.23:134.02:1.00:1.00:1.00:60:39.6:0:0:60:87:29:NM_018571.5(STRADB) c.=,NM_018571.5(STRADB) c.=:0.97,0.97:NOT_FOUND,NOT_FOUND 2 202345575 . T . . NT END=202352334;NT GT ./. 2 202352626 . C . . NT END=202355891;NT GT ./. 2 202357949 rs2714482 A C 184 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=912;Gene=ALS2CR11/NM_001168216.1/0;CC=c.*49+2669T>G;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.3115T>G;ProtCh=p.C1039G;VC=Missense;Gene=ALS2CR11/NM_152525.5/0;CC=c.1581+2669T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:38:0:0:51:1601:184.33:109.74:74.59:1.00:1.00:1.00:60:35.3:0:0:63:88:34:NM_001168221.1(ALS2CR11) c.3115T>G (p.Cys1039Gly),NM_001168221.1(ALS2CR11) c.3115T>G (p.Cys1039Gly):1,1:NOT_FOUND,NOT_FOUND 2 202359495 . A . . NT END=202360617;NT GT ./. 2 202360693 . C . . NT END=202399042;NT GT ./. 2 202398992 rs10203989 A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.015;Gene=ALS2CR11/NM_001168216.1/0;CC=c.1162+11274T>C;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.1506+1752T>C;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.1506+1752T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,G:8:8:0:0:4,4:131,90:0.00,8.40:0.00,8.40:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:20.0,55.5:0,0:0,0:18,103:132,47:8,31:-,NM_001168221.1(ALS2CR11) c.1506+1752T>C:-,0.69:-,NOT_FOUND 2 202399504 rs78043089 G GAA 36 PASS VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=683;PC=0.011;Gene=ALS2CR11/NM_001168216.1/0;CC=c.1162+10761_1162+10762insTT;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.1506+1239_1506+1240insTT;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.1506+1239_1506+1240insTT;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.*1092_*1093insTT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GAA:47:17:13:0:34,13:1089,417:0.00,35.88:0.00,6.69:0.00,29.19:0.00,1.00:0.00,0.99:0.00,1.00:60,60:2.2,3.4:0,0:0,0:104,119:46,32:34,20:-,NM_001168221.1(ALS2CR11) c.1506+1239_1506+1240insTT:-,0.75:-,NOT_FOUND 2 202399535 . t . . NT END=202399816;NT GT ./. 2 202399690 rs10196072 T C 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ALS2CR11/NM_001168216.1/0;CC=c.1162+10576A>G;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.1506+1054A>G;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.1506+1054A>G;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.*907A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:9:0:0:9,6:301,205:30.01,0.00:24.69,0.00:5.32,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:34.8,2.2:0,0:0,0:79,81:72,69:22,29:NM_001168221.1(ALS2CR11) c.1506+1054A>G,-:0.69,-:NOT_FOUND,- 2 202400236 rs1914264 T C 86 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ALS2CR11/NM_001168216.1/0;CC=c.1162+10030A>G;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.1506+508A>G;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.1506+508A>G;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.*361A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:37:0:0:27,37:919,1218:85.86,0.00:33.57,0.00:52.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,7.0:0,0:0,0:80,71:71,80:36,40:NM_001168221.1(ALS2CR11) c.1506+508A>G,-:0.69,-:NOT_FOUND,- 2 202400327 rs1914263 T C 63 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=ALS2CR11/NM_001168216.1/0;CC=c.1162+9939A>G;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.1506+417A>G;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.1506+417A>G;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.*270A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:42:0:0:22,35:690,1206:62.96,0.00:38.35,0.00:24.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.0,6.1:0,0:0,0:74,81:72,69:46,39:NM_001168221.1(ALS2CR11) c.1506+417A>G,-:0.69,-:NOT_FOUND,- 2 202401044 . C . . NT END=202402158;NT GT ./. 2 202402206 . C . . NT END=202410265;NT GT ./. 2 202402250 rs55683837 AAC A 29 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1896;Gene=ALS2CR11/NM_001168216.1/0;CC=c.1162+8014_1162+8015delGT;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.1163-50_1163-49delGT;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.1163-50_1163-49delGT;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.1163-50_1163-49delGT;VC=Intron;DM=ALS2CR11/ALS2CR11;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,C,A:17:6:0:9:7,1,9:233,11,290:0.00,0.29,28.52:0.00,-0.04,4.66:0.00,0.33,23.86:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,30,70:7.0,198.0,0.6:0,0,0:0,0,0:108,142,126:40,6,23:21,0,14:-,NM_001168221.1(ALS2CR11) c.1163-50_1163-49delGT:-,0.7:-,0.57821 2 202410345 . C . . NT END=202412227;NT GT ./. 2 202410377 . G A 15 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;NP=26;Gene=ALS2CR11/NM_001168216.1/0;CC=c.1084-33C>T;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.1084-33C>T;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.1084-33C>T;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.1084-33C>T;VC=Intron;DM=ALS2CR11/ALS2CR11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,G:15:8:0:1:6,9:163,257:14.77,0.00:13.24,0.00:1.53,0.00:0.96,0.00:0.97,0.00:0.98,0.00:60,60:31.3,36.8:0,1:0,0:130,96:9,45:11,31:NM_001168221.1(ALS2CR11) c.1084-33C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 202412334 . C . . NT END=202430451;NT GT ./. 2 202430428 rs530636468 A AT 39 idl,rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=11;Gene=ALS2CR11/NM_001168216.1/0;CC=c.977+23_977+24insA;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.977+23_977+24insA;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.977+23_977+24insA;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.977+23_977+24insA;VC=Intron;DM=ALS2CR11/ALS2CR11;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:35:37:17:7:16,13,6:470,540,211:0.00,39.03,15.30:0.00,31.61,11.41:0.00,7.43,3.88:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:20.6,78.8,65.7:0,4,1:0,0,0:66,26,56:63,103,78:28,12,23:-,NM_001168221.1(ALS2CR11) c.977+23_977+24insA:-,NOT_FOUND:-,NOT_FOUND 2 202430596 . C . . NT END=202436663;NT GT ./. 2 202436744 . C . . NT END=202438931;NT GT ./. 2 202439001 . C . . NT END=202440004;NT GT ./. 2 202440050 . C . . NT END=202446817;NT GT ./. 2 202446941 . C . . NT END=202466461;NT GT ./. 2 202466608 . C . . NT END=202467946;NT GT ./. 2 202467999 . C . . NT END=202469333;NT GT ./. 2 202468388 rs7595493 G A 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.590;Gene=ALS2CR11/NM_001168216.1/0;CC=c.319-390C>T;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.319-390C>T;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.319-390C>T;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.319-390C>T;VC=Intron;DM=ALS2CR11/ALS2CR11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:157:18.08:0.00:18.08:1.00:0.00:1.00:60:31.4:0:0:116:31:6:NM_001168221.1(ALS2CR11) c.319-390C>T,NM_001168221.1(ALS2CR11) c.319-390C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 202469361 rs12474206 C T 95 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ALS2CR11/NM_001168216.1/0;CC=c.291G>A;ProtCh=p.T97=;VC=Silent;Gene=ALS2CR11/NM_001168221.1/1;CC=c.291G>A;ProtCh=p.T97=;VC=Silent;Gene=ALS2CR11/NM_152525.5/0;CC=c.291G>A;ProtCh=p.T97=;VC=Silent;Gene=ALS2CR11/NM_001168217.1/0;CC=c.291G>A;ProtCh=p.T97=;VC=Silent;DM=ALS2CR11/ALS2CR11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:21:0:0:26:828:95.17:56.51:38.67:1.00:1.00:1.00:60:46.4:0:0:63:87:32:NM_001168221.1(ALS2CR11) c.=,NM_001168221.1(ALS2CR11) c.=:0.87,0.87:0.979468,0.979468 2 202469421 . C . . NT END=202483622;NT GT ./. 2 202469472 rs7572583 A G 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ALS2CR11/NM_001168216.1/0;CC=c.232-52T>C;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.232-52T>C;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.232-52T>C;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.232-52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:6:0:0:15:482:55.31:17.35:37.96:1.00:1.00:1.00:60:58.1:0:0:110:37:21:NM_001168221.1(ALS2CR11) c.232-52T>C,NM_001168221.1(ALS2CR11) c.232-52T>C:0.98,0.98:0.977435,0.977435 2 202469533 rs7560158 T G 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ALS2CR11/NM_001168216.1/0;CC=c.232-113A>C;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.232-113A>C;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.232-113A>C;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.232-113A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:289:33.19:0.00:33.19:1.00:0.00:1.00:60:49.7:0:0:99:52:43:NM_001168221.1(ALS2CR11) c.232-113A>C,NM_001168221.1(ALS2CR11) c.232-113A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 202469808 rs7575619 A C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ALS2CR11/NM_001168216.1/0;CC=c.232-388T>G;VC=Intron;Gene=ALS2CR11/NM_001168221.1/1;CC=c.232-388T>G;VC=Intron;Gene=ALS2CR11/NM_152525.5/0;CC=c.232-388T>G;VC=Intron;Gene=ALS2CR11/NM_001168217.1/0;CC=c.232-388T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:139:15.81:7.90:7.90:1.00:1.00:1.00:60:34.8:0:0:130:20:8:NM_001168221.1(ALS2CR11) c.232-388T>G,NM_001168221.1(ALS2CR11) c.232-388T>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 202483854 . C . . NT END=202488977;NT GT ./. 2 202484003 rs57529495 G GC 54 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1818;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G,GC:19:0:16:0:1,2,16:30,63,496:2.16,0.00,54.42:0.00,0.00,0.00:2.16,0.00,54.42:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:77.0,30.5,15.4:0,0,0:0,0,0:0,145,107:151,3,44:0,0,12:-,NM_001168221.1(ALS2CR11) c.-52-u99_-52-u98insG:-,1:-,NOT_FOUND 2 202489046 . C . . NT END=202490748;NT GT ./. 2 202490871 . C . . NT END=202492043;NT GT ./. 2 202492138 . C . . NT END=202492798;NT GT ./. 2 202492873 . C . . NT END=202493952;NT GT ./. 2 202494145 . C . . NT END=202494451;NT GT ./. 2 202494576 . C . . NT END=202496773;NT GT ./. 2 202494630 . A AT 9 idl,rn VT=INS;SST=Single;DP=55;NP=2;Gene=TMEM237/NM_152388.3/1;CC=c.530-56dupA;VC=Intron;Gene=TMEM237/NM_001044385.2/0;CC=c.554-56dupA;VC=Intron;DM=TMEM237/TMEM237;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,AT,D:55:21:4:4:47,4,4:1470,132,130:0.00,9.02,8.82:0.00,0.93,0.98:0.00,8.09,7.85:0.00,0.53,0.00:0.00,0.67,0.00:0.00,0.91,0.00:60,60,60:11.4,6.0,0.0:0,0,0:0,0,0:90,113,115:51,38,34:34,15,11:-,NM_001044385.2(TMEM237) c.554-56_554-55insA:-,NOT_FOUND:-,NOT_FOUND 2 202496947 . A . . NT END=202498033;NT GT ./. 2 202497155 rs56098207 C T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.037;Gene=TMEM237/NM_152388.3/1;CC=c.372-224G>A;VC=Intron;Gene=TMEM237/NM_001044385.2/0;CC=c.396-224G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:0:0:0:2,3:69,97:0.00,9.67:0.00,0.00:0.00,9.67:0.00,0.78:0.00,0.00:0.00,0.78:60,60:21.5,32.3:0,0:0,0:87,132:63,19:41,10:-,NM_001044385.2(TMEM237) c.396-224G>A:-,0.12:-,NOT_FOUND 2 202498155 . C . . NT END=202501470;NT GT ./. 2 202501205 rs55971100 T C 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003;Gene=TMEM237/NM_152388.3/1;CC=c.250+266A>G;VC=Intron;Gene=TMEM237/NM_001044385.2/0;CC=c.274+266A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:33.8:0:0:48:101:21:NM_001044385.2(TMEM237) c.274+266A>G,NM_001044385.2(TMEM237) c.274+266A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 2 202501448 rs1208081 T C 210 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.038;Gene=TMEM237/NM_152388.3/1;CC=c.250+23A>G;VC=Intron;Gene=TMEM237/NM_001044385.2/0;CC=c.274+23A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A,C:56:51:0:0:1,55:10,1847:0.17,210.49:0.17,160.03:0.00,50.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:50.0,38.3:0,0:0,0:68,52:82,93:0,31:NM_001044385.2(TMEM237) c.274+23A>G,NM_001044385.2(TMEM237) c.274+23A>G:0.57,0.57:0.668604,0.668604 2 202501609 . C . . NT END=202503711;NT GT ./. 2 202503769 . C . . NT END=202504983;NT GT ./. 2 202504989 . C . . NT END=202505615;NT GT ./. 2 202505648 . C . . NT END=202507331;NT GT ./. 2 202505719 . AT A 10 idl,rn VT=DEL;SST=Single;DP=28;NP=12;PC=0.046;Gene=TMEM237/NM_152388.3/1;CC=c.19-73delA;VC=Intron;Gene=TMEM237/NM_001044385.2/0;CC=c.43-73delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:AT,I,A:26:17:2:5:21,1,4:630,60,164:0.00,1.90,10.13:0.00,-0.14,0.91:0.00,2.05,9.22:0.00,0.00,0.66:0.00,0.00,0.86:0.00,0.00,0.93:60,60,60:33.0,62.0,34.5:0,1,1:0,0,0:97,98,88:39,52,62:20,33,5:-,NM_001044385.2(TMEM237) c.43-73delA:-,NOT_FOUND:-,NOT_FOUND 2 202505740 rs2540424 T A 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TMEM237/NM_152388.3/1;CC=c.19-93A>T;VC=Intron;Gene=TMEM237/NM_001044385.2/0;CC=c.43-93A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:10:0:0:23:765:87.43:21.43:66.01:1.00:1.00:1.00:60:39.1:0:0:103:44:15:NM_001044385.2(TMEM237) c.43-93A>T,NM_001044385.2(TMEM237) c.43-93A>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 202507668 . G . . NT END=202508081;NT GT ./. 2 202507982 rs6723016 T C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=TMEM237/NM_001044385.2/0;CC=c.42+100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:C,T:9:7:0:0:5,4:168,115:16.50,0.00:8.13,0.00:8.38,0.00:0.96,0.00:0.99,0.00:0.99,0.00:60,60:50.0,22.5:0,0:0,0:47,56:104,84:41,34:NM_001044385.2(TMEM237) c.42+100A>G,-:0.54,-:NOT_FOUND,- 2 202508124 . G . . NT END=202509931;NT GT ./. 2 202509737 rs397769015 G GA 15 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=64;PC=0.975;Gene=MPP4/NM_033066.2/1;CC=c.*195dupT;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,G,GA:14:14:5:0:1,8,5:28,263,161:1.88,0.00,14.71:1.88,0.00,14.71:0.00,0.00,0.00:0.00,0.00,0.90:0.00,0.00,0.90:0.00,0.00,0.00:60,60,60:62.0,6.2,29.8:0,0,0:0,0,0:1,72,57:150,78,93:0,24,30:-,NM_033066.2(MPP4) c.*195dupT:-,0.47:-,NOT_FOUND 2 202509814 rs3754932 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.005;Gene=MPP4/NM_033066.2/1;CC=c.*119A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:22:0:0:9,13:282,422:26.01,0.00:26.01,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.0,23.9:0,0:0,0:78,55:73,85:27,31:NM_033066.2(MPP4) c.*119A>G,-:0.53,-:NOT_FOUND,- 2 202510128 . C . . NT END=202512412;NT GT ./. 2 202512549 . C . . NT END=202514297;NT GT ./. 2 202514408 . C . . NT END=202514793;NT GT ./. 2 202516416 . c . . NT END=202516684;NT GT ./. 2 202516685 rs397752070 A AAAAC 35 PASS VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=594;PC=0.003;Gene=MPP4/NM_033066.2/1;CC=c.1382-1798_1382-1797insGTTT;VC=Intron;DM=MPP4/Guanylate_kin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAAAC:31:26:12:0:19,12:620,380:0.00,34.74:0.00,27.35:0.00,7.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:17.7,29.4:0,0:0,0:40,66:99,84:21,31:-,NM_033066.2(MPP4) c.1382-1798_1382-1797insGTTT:-,0.8:-,NOT_FOUND 2 202516695 . GA G 9 rn VT=DEL;SST=Single;DP=33;PC=0.004;Gene=MPP4/NM_033066.2/1;CC=c.1382-1808delT;VC=Intron;DM=MPP4/Guanylate_kin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,GA,I,G:33:26:3:4:1,25,3,4:12,830,100,126:0.03,0.00,7.27,9.44:-0.21,0.00,4.88,5.68:0.24,0.00,2.39,3.76:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.83:60,70,60,60:99.0,17.2,32.0,11.5:0,0,0,0:0,0,0,0:56,56,84,38:95,93,42,103:0,41,29,9:-,NM_033066.2(MPP4) c.1382-1808delT:-,NOT_FOUND:-,NOT_FOUND 2 202516775 rs10169154 T C 42 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.1382-1887A>G;VC=Intron;DM=MPP4/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:28:0:0:15,30:472,1010:41.88,0.00:20.54,0.00:21.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:57.3,12.3:0,0:0,0:75,81:61,55:15,29:NM_033066.2(MPP4) c.1382-1887A>G,-:0.54,-:NOT_FOUND,- 2 202516796 . c . . NT END=202519558;NT GT ./. 2 202516849 rs1208065 A C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MPP4/NM_033066.2/1;CC=c.1382-1961T>G;VC=Intron;DM=MPP4/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:24:8:0:0:14,10:463,336:0.00,31.29:0.00,6.21:0.00,25.08:0.00,1.00:0.00,0.98:0.00,1.00:60,60:12.6,77.9:0,0:0,0:118,97:27,53:14,34:-,NM_033066.2(MPP4) c.1382-1961T>G:-,0.82:-,NOT_FOUND 2 202516907 rs4516414 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MPP4/NM_033066.2/1;CC=c.1382-2019A>G;VC=Intron;DM=MPP4/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:12:0:0:0:6,6:182,205:17.45,0.00:0.00,0.00:17.45,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:74.5,1.7:0,0:0,0:104,58:45,93:29,20:NM_033066.2(MPP4) c.1382-2019A>G,-:0.58,-:NOT_FOUND,- 2 202519641 . C . . NT END=202520919;NT GT ./. 2 202521092 . C . . NT END=202523198;NT GT ./. 2 202523242 . C . . NT END=202525054;NT GT ./. 2 202523347 rs2597900 C T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.1088-106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:3:0:0:7,12:215,365:0.00,36.76:0.00,3.90:0.00,32.87:0.00,1.00:0.00,0.95:0.00,1.00:60,60:0.0,52.2:0,0:0,0:85,104:66,46:44,23:-,NM_033066.2(MPP4) c.1088-106G>A:-,0.49:-,NOT_FOUND 2 202523547 rs7602825 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014;Gene=MPP4/NM_033066.2/1;CC=c.1088-306T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:138:15.71:0.00:15.71:1.00:0.00:1.00:60:63.8:0:0:77:72:9:NM_033066.2(MPP4) c.1088-306T>C,NM_033066.2(MPP4) c.1088-306T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 202525070 . C . . NT END=202528803;NT GT ./. 2 202528825 . C . . NT END=202528933;NT GT ./. 2 202528830 rs74887695 A AT 86 nt VT=INS;SST=Single;DP=73;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1206;PC=0.013;Gene=MPP4/NM_033066.2/1;CC=c.1052-7dupA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:73:56:29:0:44,29:1347,937:0.00,86.25:0.00,54.69:0.00,31.56:0.00,1.00:0.00,1.00:0.00,1.00:60,70:11.1,8.6:0,0:0,0:66,58:84,83:20,34:-,NM_033066.2(MPP4) c.1052-7_1052-6insA:-,0.35:-,0.386254 2 202529060 . C . . NT END=202531056;NT GT ./. 2 202531096 . C . . NT END=202534455;NT GT ./. 2 202531136 rs17384314 G C 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.1013-41C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:24:0:0:16,21:538,725:50.44,0.00:20.81,0.00:29.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.8,3.0:0,0:0,0:108,88:37,63:19,24:NM_033066.2(MPP4) c.1013-41C>G,-:0.3,-:0.313882,- 2 202531264 rs62193398 T C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.004;Gene=MPP4/NM_033066.2/1;CC=c.1013-169A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:14:0:0:0:3,11:94,361:7.67,0.00:0.00,0.00:7.67,0.00:0.56,0.00:0.00,0.00:0.56,0.00:60,60:43.3,18.1:0,0:0,0:85,104:65,47:25,23:NM_033066.2(MPP4) c.1013-169A>G,-:0.3,-:NOT_FOUND,- 2 202534280 rs533196233 AATGACTATCACACTACT A 20 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MPP4/NM_033066.2/1;CC=c.1012+159_1012+175delAGTAGTGTGATAGTCAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:AATGACTATCACACTACT,A:8:8:0:6:2,6:63,187:0.00,19.61:0.00,19.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,3.7:0,6:0,0:102,53:40,97:10,10:-,NM_033066.2(MPP4) c.1012+159_1012+175delAGTAGTGTGATAGTCAT:-,NOT_FOUND:-,NOT_FOUND 2 202534303 rs145833090 TATAGGAAGAGCTTAA T 20 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2;PC=0.046;Gene=MPP4/NM_033066.2/1;CC=c.1012+138_1012+152delTTAAGCTCTTCCTAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:TATAGGAAGAGCTTAA,T:8:8:0:6:2,6:68,189:0.00,19.81:0.00,19.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,3.7:0,6:0,0:125,59:17,91:10,10:-,NM_033066.2(MPP4) c.1012+138_1012+152delTTAAGCTCTTCCTAT:-,NOT_FOUND:-,NOT_FOUND 2 202534474 . C . . NT END=202539928;NT GT ./. 2 202539995 . C . . NT END=202545559;NT GT ./. 2 202545758 . C . . NT END=202546217;NT GT ./. 2 202546113 rs1208073 T C 63 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.732+106A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:540:62.51:60.62:1.89:1.00:1.00:1.00:60:33.7:0:0:73:76:14:NM_033066.2(MPP4) c.732+106A>G,NM_033066.2(MPP4) c.732+106A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 202546291 . C . . NT END=202547552;NT GT ./. 2 202547640 . C . . NT END=202549785;NT GT ./. 2 202549546 rs1987672 G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.574+241C>T;VC=Intron;DM=MPP4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:A:6:6:0:0:6:138:16.53:16.53:0.00:1.00:1.00:0.00:60:105.8:0:0:34:116:6:NM_033066.2(MPP4) c.574+241C>T,NM_033066.2(MPP4) c.574+241C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 202549626 rs1812933 A G 36 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MPP4/NM_033066.2/1;CC=c.574+161T>C;VC=Intron;DM=MPP4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:G:12:12:0:0:12:304:35.83:34.54:1.29:1.00:1.00:1.00:60:96.3:0:0:60:89:40:NM_033066.2(MPP4) c.574+161T>C,NM_033066.2(MPP4) c.574+161T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 202549666 rs1812932 A C 64 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.574+121T>G;VC=Intron;DM=MPP4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:18:0:0:19:551:64.08:62.23:1.86:1.00:1.00:1.00:60:73.5:3:0:46:105:32:NM_033066.2(MPP4) c.574+121T>G,NM_033066.2(MPP4) c.574+121T>G:0.31,0.31:NOT_FOUND,NOT_FOUND 2 202549869 . C . . NT END=202550640;NT GT ./. 2 202550021 . C T 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;PC=0.285;Gene=MPP4/NM_033066.2/1;CC=c.493-153G>A;VC=Intron;DM=MPP4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,T:13:0:0:0:6,7:164,214:0.00,20.85:0.00,0.00:0.00,20.85:0.00,0.99:0.00,0.00:0.00,0.99:60,60:33.7,49.6:0,0:0,0:48,141:102,7:32,6:-,NM_033066.2(MPP4) c.493-153G>A:-,NOT_FOUND:-,NOT_FOUND 2 202550083 rs62193402 G A 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MPP4/NM_033066.2/1;CC=c.493-215C>T;VC=Intron;DM=MPP4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:0:0:0:8:218:25.57:0.00:25.57:1.00:0.00:1.00:60:55.2:0:0:74:76:51:NM_033066.2(MPP4) c.493-215C>T,NM_033066.2(MPP4) c.493-215C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 2 202550159 rs2597904 A G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.493-291T>C;VC=Intron;DM=MPP4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G,T:6:0:0:0:5,1:134,10:15.32,0.73:0.00,0.00:15.32,0.73:0.99,0.00:0.00,0.00:0.99,0.00:60,60:70.6,95.0:0,0:0,0:85,87:66,62:56,0:NM_033066.2(MPP4) c.493-291T>C,NM_033066.2(MPP4) c.493-291T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 202550266 rs2540427 G A 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003;Gene=MPP4/NM_033066.2/1;CC=c.492+376C>T;VC=Intron;DM=MPP4/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:2:0:0:5:167:19.08:7.65:11.43:1.00:1.00:1.00:60:49.0:0:0:64:87:34:NM_033066.2(MPP4) c.492+376C>T,NM_033066.2(MPP4) c.492+376C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 2 202550774 . C . . NT END=202552013;NT GT ./. 2 202552095 . C . . NT END=202554923;NT GT ./. 2 202555003 . C . . NT END=202557629;NT GT ./. 2 202557702 rs6725443 C T 284 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MPP4/NM_033066.2/1;CC=c.130G>A;ProtCh=p.G44S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:52:0:0:74:2487:283.97:147.66:136.31:1.00:1.00:1.00:60:41.9:0:0:74:76:38:NM_033066.2(MPP4) c.=,NM_033066.2(MPP4) c.=:0.98,0.98:0.972056,0.972056 2 202557753 . C . . NT END=202558597;NT GT ./. 2 202557904 rs2540425 C T 76 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=MPP4/NM_033066.2/1;CC=c.80-152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:0:0:0:20:660:75.54:0.00:75.54:1.00:0.00:1.00:60:37.5:0:0:101:50:18:NM_033066.2(MPP4) c.80-152G>A,NM_033066.2(MPP4) c.80-152G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 202558778 . C . . NT END=202562653;NT GT ./. 2 202562449 rs11677237 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MPP4/NM_033066.2/1;CC=c.-101+861G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:34.5:0:0:91:58:34:NM_033066.2(MPP4) c.-101+861G>A,NM_033066.2(MPP4) c.-101+861G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 2 202562792 . A . . NT END=202563309;NT GT ./. 2 202562870 rs10640519 A AAGTC 168 nt VT=INS;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=574;PC=0.971;Gene=MPP4/NM_033066.2/1;CC=c.-101+439_-101+440insGACT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,AAGTC:54:17:48:0:6,48:170,1534:0.00,168.11:0.00,23.88:0.00,144.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,8.4:0,0:0,0:145,101:2,49:2,18:-,NM_033066.2(MPP4) c.-101+439_-101+440insGACT:-,NOT_FOUND:-,NOT_FOUND 2 202563332 . G . . NT END=202566573;NT GT ./. 2 202566613 . C . . NT END=202568844;NT GT ./. 2 202566741 rs7603563 T C 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4936-129A>G;VC=Intron;DM=ALS2/VPS9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:0:0:0:17:533:61.37:0.00:61.37:1.00:0.00:1.00:60:37.2:0:0:97:53:39:NM_020919.3(ALS2) c.4936-129A>G,NM_020919.3(ALS2) c.4936-129A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 202568942 . C . . NT END=202569176;NT GT ./. 2 202569327 . C . . NT END=202569861;NT GT ./. 2 202569654 rs7598082 C A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4688+208G>T;VC=Intron;DM=ALS2/VPS9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:224:25.74:25.74:0.00:1.00:1.00:0.00:60:63.4:0:0:86:65:26:NM_020919.3(ALS2) c.4688+208G>T,NM_020919.3(ALS2) c.4688+208G>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 202569924 . C . . NT END=202570138;NT GT ./. 2 202569992 rs3219171 A T 119 nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ALS2/NM_020919.3/1;CC=c.4627-69T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G,T:35:22:0:0:2,33:21,1046:0.87,119.44:0.87,57.64:0.00,61.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,40.8:0,0:0,0:92,84:58,66:55,33:NM_020919.3(ALS2) c.4627-69T>A,NM_020919.3(ALS2) c.4627-69T>A:0.91,0.91:0.887648,0.887648 2 202570185 . C . . NT END=202571568;NT GT ./. 2 202570232 rs3219170 A G 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ALS2/NM_020919.3/1;CC=c.4581-48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:16:0:0:35:1126:129.19:38.72:90.47:1.00:1.00:1.00:60:44.1:0:0:91:44:28:NM_020919.3(ALS2) c.4581-48T>C,NM_020919.3(ALS2) c.4581-48T>C:0.91,0.91:0.890644,0.890644 2 202571746 . C . . NT END=202572591;NT GT ./. 2 202572715 . C . . NT END=202574603;NT GT ./. 2 202572925 rs2058661 C T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4281-211G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:153:17.68:0.00:17.68:1.00:0.00:1.00:60:70.8:0:0:93:58:29:NM_020919.3(ALS2) c.4281-211G>A,NM_020919.3(ALS2) c.4281-211G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 202574762 . C . . NT END=202575713;NT GT ./. 2 202574825 rs1210940 C T 173 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4123-64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:A,T:51:14:0:0:1,50:10,1496:0.18,172.76:0.00,28.35:0.18,144.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,47.9:0,0:0,0:38,97:113,53:0,27:NM_020919.3(ALS2) c.4123-64G>A,NM_020919.3(ALS2) c.4123-64G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 202574906 rs397763573 A AT 67 rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=666;Gene=ALS2/NM_020919.3/1;CC=c.4123-146dupA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,AT:26:0:20:0:6,20:175,638:0.00,67.24:0.00,0.00:0.00,67.24:0.00,1.00:0.00,0.00:0.00,1.00:60,60:64.3,35.1:0,0:0,0:139,110:8,40:5,16:-,NM_020919.3(ALS2) c.4123-146_4123-145insA:-,0.91:-,NOT_FOUND 2 202575821 rs3219168 G A 77 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4015C>T;ProtCh=p.L1339=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:13:0:0:21:666:76.56:30.87:45.70:1.00:1.00:1.00:60:43.9:0:0:110:39:23:NM_020919.3(ALS2) c.4015C>T (p.(=)),NM_020919.3(ALS2) c.4015C>T (p.(=)):0.91,0.91:0.890003,0.890003 2 202575832 . C . . NT END=202580394;NT GT ./. 2 202575907 rs2882231 A G 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4005-76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:260:30.20:0.00:30.20:1.00:0.00:1.00:60:62.0:0:0:96:55:14:NM_020919.3(ALS2) c.4005-76T>C,NM_020919.3(ALS2) c.4005-76T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 2 202580268 rs10469756 T C 104 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4004+127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:30:0:0:30:896:103.86:103.86:0.00:1.00:1.00:0.00:60:53.1:0:0:42:108:33:NM_020919.3(ALS2) c.4004+127A>G,NM_020919.3(ALS2) c.4004+127A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 202580370 rs3219167 G A 295 nt VT=SNV;PN=T;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.4004+25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:83:75:0:0:83:2558:295.08:223.72:71.36:1.00:1.00:1.00:60:40.5:0:0:48:96:30:NM_020919.3(ALS2) c.4004+25C>T,NM_020919.3(ALS2) c.4004+25C>T:0.81,0.81:0.820528,0.820528 2 202580563 . C . . NT END=202582799;NT GT ./. 2 202582934 . C . . NT END=202587765;NT GT ./. 2 202587844 . C . . NT END=202588052;NT GT ./. 2 202588165 . C . . NT END=202589017;NT GT ./. 2 202589183 . C . . NT END=202590078;NT GT ./. 2 202590178 . C . . NT END=202591206;NT GT ./. 2 202591273 . C . . NT END=202591386;NT GT ./. 2 202591590 . C . . NT END=202591934;NT GT ./. 2 202592002 . C . . NT END=202592427;NT GT ./. 2 202592499 . C . . NT END=202593234;NT GT ./. 2 202593364 . C . . NT END=202593774;NT GT ./. 2 202593907 . C . . NT END=202597998;NT GT ./. 2 202593929 rs567439355 G GA 19 idl,rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=2;Gene=ALS2/NM_020919.3/1;CC=c.2581-24dupT;VC=Intron;DM=ALS2/RhoGEF;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:A,G,GA,D:64:30:9:6:2,49,9,4:17,1549,260,178:-0.28,0.00,19.40,7.92:-0.21,0.00,7.32,2.23:-0.07,0.00,12.08,5.69:0.00,0.00,0.97,0.00:0.00,0.00,0.96,0.00:0.00,0.00,1.00,0.00:60,60,70,60:94.0,13.1,16.1,47.2:0,0,0,2:0,0,0,0:92,81,59,81:49,62,85,69:42,27,18,24:-,NM_020919.3(ALS2) c.2581-24_2581-23insT:-,NOT_FOUND:-,NOT_FOUND 2 202594039 rs13029960 A G 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.2581-133T>C;VC=Intron;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:1:0:0:16,8:459,269:0.00,24.10:0.00,-0.09:0.00,24.19:0.00,0.99:0.00,0.56:0.00,0.99:60,60:16.2,41.9:0,0:0,0:96,119:54,31:27,24:-,NM_020919.3(ALS2) c.2581-133T>C:-,0.48:-,NOT_FOUND 2 202598113 rs2276615 C T 35 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.829;Gene=ALS2/NM_020919.3/1;CC=c.2466G>A;ProtCh=p.V822=;VC=Silent;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:24:0:0:28,13:922,400:0.00,35.08:0.00,5.39:0.00,29.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,36.4:0,0:0,0:67,114:80,37:31,33:-,NM_020919.3(ALS2) c.2466G>A (p.(=)):-,0.43:-,0.468002 2 202598162 . C . . NT END=202603392;NT GT ./. 2 202603459 . C . . NT END=202606396;NT GT ./. 2 202606193 rs10451572 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ALS2/NM_020919.3/1;CC=c.2351+204G>A;VC=Intron;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:8:8:0:0:3,5:104,137:0.00,13.76:0.00,13.76:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,48.2:0,0:0,0:54,58:96,93:41,20:-,NM_020919.3(ALS2) c.2351+204G>A:-,0.49:-,NOT_FOUND 2 202606578 . C . . NT END=202608980;NT GT ./. 2 202606639 rs3731703 G A 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.015;Gene=ALS2/NM_020919.3/1;CC=c.2171-62C>T;VC=Intron;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:5:0:0:16,11:524,357:52.13,0.00:8.39,0.00:43.74,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:37.4,5.9:0,0:0,0:110,87:31,64:29,16:NM_020919.3(ALS2) c.2171-62C>T,-:0.49,-:NOT_FOUND,- 2 202608877 rs4673207 C A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.017;Gene=ALS2/NM_020919.3/1;CC=c.2170+104G>T;VC=Intron;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:13:12:0:0:7,6:210,212:20.43,0.00:16.82,0.00:3.61,0.00:0.99,0.00:1.00,0.00:0.69,0.00:60,60:34.3,0.0:0,0:0,0:42,52:108,98:39,40:NM_020919.3(ALS2) c.2170+104G>T,-:0.51,-:NOT_FOUND,- 2 202609153 . C . . NT END=202611288;NT GT ./. 2 202609365 rs3820967 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ALS2/NM_020919.3/1;CC=c.1999-213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:6:0:0:0:3,3:103,89:9.93,0.00:0.00,0.00:9.93,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:34.3,81.7:0,0:0,0:114,55:36,96:18,2:NM_020919.3(ALS2) c.1999-213C>T,-:0.45,-:NOT_FOUND,- 2 202611472 . C . . NT END=202614434;NT GT ./. 2 202614513 . C . . NT END=202617868;NT GT ./. 2 202617966 . C . . NT END=202619225;NT GT ./. 2 202619395 . C . . NT END=202622124;NT GT ./. 2 202622483 . C . . NT END=202624179;NT GT ./. 2 202624785 . c . . NT END=202625038;NT GT ./. 2 202625615 rs3219156 C T 150 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.1102G>A;ProtCh=p.V368M;VC=Missense;Gene=ALS2/NM_001135745.1/0;CC=c.1102G>A;ProtCh=p.V368M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:106:71:0:0:55,1,50:1789,10,1575:0.00,-0.12,149.78:0.00,-0.03,85.79:0.00,-0.09,63.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.1,167.0,40.3:0,0,0:0,0,0:73,82,86:63,48,61:39,0,38:-,NM_020919.3(ALS2) c.1102G>A (p.Val368Met):-,0.9:-,0.861446 2 202626542 . C . . NT END=202631951;NT GT ./. 2 202628280 rs6435104 T C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.911;Gene=ALS2/NM_020919.3/1;CC=c.176-1739A>G;VC=Intron;Gene=ALS2/NM_001135745.1/0;CC=c.176-1739A>G;VC=Intron;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,T:8:5:0:0:4,4:134,116:12.92,0.00:4.71,0.00:8.21,0.00:0.87,0.00:0.96,0.00:0.73,0.00:60,60:33.5,0.0:0,0:0,0:48,69:102,81:16,19:NM_020919.3(ALS2) c.176-1739A>G,-:0.9,-:NOT_FOUND,- 2 202631615 rs2110645 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ALS2/NM_020919.3/1;CC=c.175+337G>A;VC=Intron;Gene=ALS2/NM_001135745.1/0;CC=c.175+337G>A;VC=Intron;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:131:15.46:15.46:0.00:1.00:1.00:0.00:60:64.6:0:0:36:115:12:NM_020919.3(ALS2) c.175+337G>A,NM_020919.3(ALS2) c.175+337G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 202631679 rs1965650 C G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.033;Gene=ALS2/NM_020919.3/1;CC=c.175+273G>C;VC=Intron;Gene=ALS2/NM_001135745.1/0;CC=c.175+273G>C;VC=Intron;DM=ALS2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,G:10:10:0:0:5,5:154,115:0.00,10.80:0.00,10.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.0,59.6:0,0:0,0:55,80:96,70:10,32:-,NM_020919.3(ALS2) c.175+273G>C:-,0.36:-,NOT_FOUND 2 202632107 . C . . NT END=202633588;NT GT ./. 2 202632400 rs12465561 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ALS2/NM_020919.3/1;CC=c.21-294G>A;VC=Intron;Gene=ALS2/NM_001135745.1/0;CC=c.21-294G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:47.5:0:0:111:40:31:NM_020919.3(ALS2) c.21-294G>A,NM_020919.3(ALS2) c.21-294G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 202633609 . C . . NT END=202671387;NT GT ./. 2 202633725 rs113884822 TA T 12 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=24;Gene=ALS2/NM_020919.3/1;CC=c.-60-58delT;VC=Intron;Gene=ALS2/NM_001135745.1/0;CC=c.-60-58delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,TA,I,T:21:7:1:5:1,14,1,5:11,378,33,139:0.12,0.00,2.16,11.52:-0.07,0.00,1.16,2.74:0.20,0.00,1.01,8.78:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.98:60,60,60,60:156.0,12.8,0.0,38.0:0,0,0,0:0,0,0,0:88,126,47,75:50,24,103,76:0,18,0,17:-,NM_020919.3(ALS2) c.-60-58delT:-,NOT_FOUND:-,NOT_FOUND 2 202671381 rs2192672 C G 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=124;DB;DBA=NA;PAF=NA;PC=0.997;Gene=CDK15/NM_139158.2/0;CC=c.-31+111C>G;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.-7C>G;VC=5UTR;Gene=CDK15/NM_001261435.1/1;CC=c.-7C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:124:99:0:0:1,80,43:8,2579,1428:-0.23,0.00,128.74:-0.18,0.00,81.53:-0.05,0.00,47.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:136.0,5.8,37.5:0,0,0:0,0,0:108,50,66:43,94,81:0,39,32:-,NM_001261435.1(CDK15) c.-7C>G:-,0.37:-,0.349913 2 202671511 . G . . NT END=202672216;NT GT ./. 2 202672367 . G . . NT END=202672575;NT GT ./. 2 202672529 rs193603 T C 78 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=CDK15/NM_139158.2/0;CC=c.121-52T>C;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.274-52T>C;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.274-52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:34:0:0:26,27:819,843:78.30,0.00:36.47,0.00:41.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,4.8:0,0:0,0:81,43:70,108:42,29:NM_001261435.1(CDK15) c.274-52T>C,-:0.08,-:0.117476,- 2 202672676 . G . . NT END=202677205;NT GT ./. 2 202677286 . G . . NT END=202687531;NT GT ./. 2 202677292 rs193602 A T 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=CDK15/NM_139158.2/0;CC=c.295+7A>T;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.448+7A>T;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.448+7A>T;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:28:16:0:0:14,14:432,465:0.00,44.77:0.00,13.84:0.00,30.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.6,33.2:0,0:0,0:95,85:38,61:35,43:-,NM_001261435.1(CDK15) c.448+7A>T:-,0.06:-,0.09265 2 202687627 . G . . NT END=202688387;NT GT ./. 2 202688190 rs6435109 A G 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1529;Gene=CDK15/NM_139158.2/0;CC=c.391-198A>G;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.544-198A>G;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.544-198A>G;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:243:27.64:27.64:0.00:1.00:1.00:0.00:60:36.4:0:0:53:98:31:NM_001261435.1(CDK15) c.544-198A>G,NM_001261435.1(CDK15) c.544-198A>G:1,1:NOT_FOUND,NOT_FOUND 2 202688293 rs4675229 A G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=CDK15/NM_139158.2/0;CC=c.391-95A>G;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.544-95A>G;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.544-95A>G;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:20:19:0:0:14,6:420,204:0.00,17.96:0.00,18.27:0.00,-0.31:0.00,0.94:0.00,1.00:0.00,0.69:60,60:18.8,34.0:0,0:0,0:21,14:129,137:13,11:-,NM_001261435.1(CDK15) c.544-95A>G:-,0.94:-,NOT_FOUND 2 202688451 . G . . NT END=202698570;NT GT ./. 2 202689521 rs7605429 A G 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CDK15/NM_139158.2/0;CC=c.453+1071A>G;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.606+1071A>G;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.606+1071A>G;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:10:0:0:19:645:73.56:31.15:42.41:1.00:1.00:1.00:60:34.3:0:0:55:96:16:NM_001261435.1(CDK15) c.606+1071A>G,NM_001261435.1(CDK15) c.606+1071A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 202698695 . G . . NT END=202700365;NT GT ./. 2 202700487 . G . . NT END=202712103;NT GT ./. 2 202700677 rs181767776 A T 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CDK15/NM_139158.2/0;CC=c.698+191A>T;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.851+191A>T;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.851+191A>T;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,T:9:0:0:0:5,4:135,111:0.00,10.33:0.00,0.00:0.00,10.33:0.00,0.85:0.00,0.00:0.00,0.85:70,60:4.6,91.5:0,2:0,0:76,94:74,55:16,10:-,NM_001261435.1(CDK15) c.851+191A>T:-,0.25:-,NOT_FOUND 2 202700715 rs370760082 TTATATA T 13 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=CDK15/NM_139158.2/0;CC=c.698+233_698+238delATATAT;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.851+233_851+238delATATAT;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.851+233_851+238delATATAT;VC=Intron;DM=CDK15/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TTATATA,T:6:0:0:5:2,4:65,129:0.00,13.15:0.00,0.00:0.00,13.15:0.00,0.93:0.00,0.00:0.00,0.93:60,70:61.5,5.8:0,0:0,0:124,106:25,44:6,8:-,NM_001261435.1(CDK15) c.851+230_851+235delTATATA:-,NOT_FOUND:-,NOT_FOUND 2 202712095 rs917958 A C 188 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.890;Gene=CDK15/NM_139158.2/0;CC=c.699-9A>C;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.852-9A>C;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.852-9A>C;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:47:0:0:52:1634:188.08:129.03:59.05:1.00:1.00:1.00:60:40.2:0:0:37:98:25:NM_001261435.1(CDK15) c.852-9A>C,NM_001261435.1(CDK15) c.852-9A>C:1,1:0.996002,0.996002 2 202712198 . G . . NT END=202719596;NT GT ./. 2 202719661 . G . . NT END=202725463;NT GT ./. 2 202726275 . t . . NT END=202737000;NT GT ./. 2 202726288 rs28392539 C T 22 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=1;NP=149;Gene=CDK15/NM_139158.2/0;CC=c.856+6628C>T;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1009+6628C>T;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1009+6628C>T;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:C,T,I,D:58:20:4:9:35,14,4,5:1089,277,126,237:0.00,21.51,8.76,11.96:0.00,10.41,-0.16,2.54:0.00,11.10,8.92,9.42:0.00,1.00,0.00,0.00:0.00,0.98,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:29.1,46.6,47.2,50.6:0,2,0,3:0,0,0,0:107,117,105,72:25,16,45,72:34,19,23,21:-,NM_001261435.1(CDK15) c.1009+6628C>T:-,NOT_FOUND:-,NOT_FOUND 2 202730733 rs72270010 ATG A 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=106;PC=0.183;Gene=CDK15/NM_139158.2/0;CC=c.857-6232_857-6231delGT;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1010-6232_1010-6231delGT;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1010-6232_1010-6231delGT;VC=Intron;DM=CDK15/Pkinase;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:ATG,A:3:5:0:4:1,2:33,131:0.00,6.74:0.00,5.06:0.00,1.68:0.00,0.46:0.00,0.46:0.00,0.87:60,60:0.0,5.0:0,2:0,0:27,53:28,72:0,20:-,NM_001261435.1(CDK15) c.1010-6267_1010-6266delTG:-,NOT_FOUND:-,NOT_FOUND 2 202737050 . G . . NT END=202741246;NT GT ./. 2 202737066 rs140412753 GAAGGGATCTTT G 47 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=79;Gene=CDK15/NM_139158.2/0;CC=c.905+32_905+42delGGATCTTTAAG;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1058+32_1058+42delGGATCTTTAAG;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1058+32_1058+42delGGATCTTTAAG;VC=Intron;DM=CDK15/Pkinase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAAGGGATCTTT,G:30:16:0:15:15,15:505,489:0.00,47.02:0.00,17.06:0.00,29.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.8,4.3:0,0:0,0:64,85:68,65:30,13:-,NM_001261435.1(CDK15) c.1058+18_1058+28delAAGGGATCTTT:-,0.07:-,0.087314 2 202737088 rs13419220 T C 58 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.008;Gene=CDK15/NM_139158.2/0;CC=c.905+39T>C;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1058+39T>C;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1058+39T>C;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:9:0:0:17,13:592,429:58.40,0.00:14.08,0.00:44.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:8.9,0.0:15,0:0,0:96,80:54,65:18,25:NM_001261435.1(CDK15) c.1058+39T>C,-:0.07,-:NOT_FOUND,- 2 202737251 . T C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;PC=1.000;Gene=CDK15/NM_139158.2/0;CC=c.905+202T>C;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1058+202T>C;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1058+202T>C;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:6:0:0:0:3,3:100,100:9.62,0.00:0.00,0.00:9.62,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:33.3,0.0:0,0:0,0:119,125:32,26:5,20:NM_001261435.1(CDK15) c.1058+202T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 202741064 rs2072504 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=CDK15/NM_139158.2/0;CC=c.906-3687G>A;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1059-3687G>A;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1059-3687G>A;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:169:19.72:19.72:0.00:1.00:1.00:0.00:60:31.3:0:0:27:123:14:NM_001261435.1(CDK15) c.1059-3687G>A,NM_001261435.1(CDK15) c.1059-3687G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 2 202741256 rs4675235 A T 117 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=CDK15/NM_139158.2/0;CC=c.906-3495A>T;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1059-3495A>T;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1059-3495A>T;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:28:0:0:35:1002:116.71:64.51:52.20:1.00:1.00:1.00:60:61.1:0:0:55:92:35:NM_001261435.1(CDK15) c.1059-3495A>T,NM_001261435.1(CDK15) c.1059-3495A>T:0.91,0.91:NOT_FOUND,NOT_FOUND 2 202741269 rs4675236 G A 147 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CDK15/NM_139158.2/0;CC=c.906-3482G>A;VC=Intron;Gene=CDK15/NM_001261436.1/0;CC=c.1059-3482G>A;VC=Intron;Gene=CDK15/NM_001261435.1/1;CC=c.1059-3482G>A;VC=Intron;DM=CDK15/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A,C:41:29:0:0:40,1:1281,9:146.71,0.17:77.28,0.00:69.43,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.0,49.0:0,0:0,0:56,89:87,62:33,0:NM_001261435.1(CDK15) c.1059-3482G>A,NM_001261435.1(CDK15) c.1059-3482G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 202741332 . G . . NT END=202744750;NT GT ./. 2 202744891 . G . . NT END=202753182;NT GT ./. 2 202754176 . c . . NT END=202755507;NT GT ./. 2 202755618 . A . . NT END=202899370;NT GT ./. 2 202758796 rs147570442 CCACACA C 6 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;PC=0.014;Gene=CDK15/NM_139158.2/0;CC=c.*842_*847delACACAC;VC=3UTR;Gene=CDK15/NM_001261435.1/1;CC=c.*842_*847delACACAC;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CCACACA,C:3:5:0:6:1,2:30,187:0.00,6.42:0.00,1.62:0.00,4.80:0.00,0.39:0.00,0.80:0.00,0.80:60,60:0.0,40.0:0,4:0,0:119,53:31,74:0,17:-,NM_001261435.1(CDK15) c.*808AC[17]:-,NOT_FOUND:-,NOT_FOUND 2 202824129 rs539191788 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=75;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:2:4:140:15.91:2.04:13.87:1.00:1.00:1.00:60:64.5:0:0:88:63:22:chr2 g.202824128A>G (intergenic),chr2 g.202824128A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 202899211 rs111910377 A C 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.053 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:21:0:0:12,9:351,272:0.00,25.26:0.00,25.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:23.8,39.4:0,0:0,0:62,74:89,77:45,25:-,NM_003507.1(FZD7) c.-61-u99A>C:-,0.2:-,NOT_FOUND 2 202901096 . G . . NT END=202938350;NT GT ./. 2 202926992 . CTCTCTCTCTGTGTGTG C 9 nt VT=DEL;SST=Single;DP=6;NP=6;PC=0.585;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:CTCTCTCTCTGTGTGTG,C:6:3:0:3:3,3:92,94:0.00,9.02:0.00,2.97:0.00,6.05:0.00,0.73:0.00,0.89:0.00,0.89:60,70:155.3,18.3:1,0:0,0:19,98:132,52:5,8:-,chr2 g.202926993_202927008delTCTCTCTCTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 202927048 rs6722274 T C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.040 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:7:3:0:0:4,3:126,96:12.43,0.00:4.67,0.00:7.77,0.00:0.90,0.00:0.93,0.00:0.99,0.00:60,60:101.8,14.7:0,0:0,0:58,138:92,12:37,8:chr2 g.202927047T>C (intergenic),-:0.54,-:NOT_FOUND,- 2 202938435 . G . . NT END=202939613;NT GT ./. 2 202939654 rs10221698 T C 207 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=NA;PC=0.007;Gene=KIAA2012/NM_001277372.1/1;CC=c.125T>C;ProtCh=p.V42A;VC=Missense;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:116:91:0:0:64,52:2112,1621:207.07,0.00:141.72,0.00:65.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,6.6:0,0:0,0:79,75:68,69:39,42:XM_003403420.2(LOC100652824) c.125T>C (p.Val42Ala),-:0.38,-:NOT_FOUND,- 2 202939899 . G . . NT END=202955492;NT GT ./. 2 202940099 rs1521886 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.002;Gene=KIAA2012/NM_001277372.1/1;CC=c.369+201T>C;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:7:0:0:0:5,2:143,69:14.86,0.00:0.00,0.00:14.86,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:30.6,0.0:0,0:0,0:127,111:24,39:16,11:XM_003403420.2(LOC100652824) c.369+201T>C,-:0.6,-:NOT_FOUND,- 2 202955454 rs1568535 G C 310 nt VT=SNV;PN=G;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=0.079;Gene=KIAA2012/NM_001277372.1/1;CC=c.370-39G>C;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:83:70:0:0:1,82:34,2719:1.96,310.41:1.96,223.58:0.00,86.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.0,41.1:0,0:0,0:111,48:40,100:0,30:XM_003403420.2(LOC100652824) c.370-39G>C,XM_003403420.2(LOC100652824) c.370-39G>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 202955653 . G . . NT END=202957752;NT GT ./. 2 202955820 rs1568534 G A 66 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.529+168G>A;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:0:0:0:21,10:641,312:65.58,0.00:0.00,0.00:65.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.3,16.0:0,0:0,0:121,105:28,44:24,39:XM_003403420.2(LOC100652824) c.529+168G>A,-:0.38,-:NOT_FOUND,- 2 202957909 . G . . NT END=202962157;NT GT ./. 2 202961958 rs12693958 C T 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.686-200C>T;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:13,8:360,253:0.00,23.06:0.00,23.06:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:4.8,36.0:0,0:0,0:66,26:84,124:24,11:-,XM_003403420.2(LOC100652824) c.686-200C>T:-,0.73:-,NOT_FOUND 2 202962301 . G . . NT END=202964335;NT GT ./. 2 202962310 rs551891084 CT C 40 idl,rn VT=DEL;SST=Single;DP=94;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=65;PC=0.001;Gene=KIAA2012/NM_001277372.1/1;CC=c.828+26delT;VC=Intron;DM=KIAA2012/DUF4670;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:88:43:9:22:65,7,16:2030,278,619:0.00,14.57,40.38:0.00,6.84,11.99:0.00,7.73,28.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.9,50.1,19.8:1,2,4:0,0,0:117,74,89:22,77,49:16,13,30:-,XM_003403420.2(LOC100652824) c.828+11delT:-,NOT_FOUND:-,NOT_FOUND 2 202962597 rs13413158 G T 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KIAA2012/NM_001277372.1/1;CC=c.828+297G>T;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:G,T:8:0:0:0:3,5:104,165:0.00,16.59:0.00,0.00:0.00,16.59:0.00,0.97:0.00,0.00:0.00,0.97:60,60:4.3,36.4:0,0:0,0:97,131:54,20:7,7:-,XM_003403420.2(LOC100652824) c.828+297G>T:-,0.15:-,NOT_FOUND 2 202964380 rs2882486 G A 78 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=0.598;Gene=KIAA2012/NM_001277372.1/1;CC=c.873G>A;ProtCh=p.E291=;VC=Silent;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:45:0:0:27,32:824,1069:77.53,0.00:50.25,0.00:27.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,10.5:0,0:0,0:80,68:55,75:31,38:XM_003403420.2(LOC100652824) c.873G>A (p.(=)),-:0.43,-:NOT_FOUND,- 2 202964517 rs10197514 G C 75 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.003;Gene=KIAA2012/NM_001277372.1/1;CC=c.1010G>C;ProtCh=p.S337T;VC=Missense;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:44:18:0:0:25,19:763,603:75.10,0.00:21.89,0.00:53.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,36.5:0,0:0,0:110,58:40,92:21,24:XM_003403420.2(LOC100652824) c.1010G>C (p.Ser337Thr),-:0.14,-:NOT_FOUND,- 2 202964520 . G . . NT END=202965029;NT GT ./. 2 202964528 rs2350722 T C 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.1012+9T>C;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:14:0:0:18,22:592,735:55.83,0.00:10.78,0.00:45.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,34.9:0,0:0,0:85,119:59,31:31,20:XM_003403420.2(LOC100652824) c.1012+9T>C,-:0.43,-:NOT_FOUND,- 2 202964986 rs6755174 C A 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.1013-44C>A;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:38:34:0:0:15,23:489,721:44.98,0.00:33.98,0.00:11.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,8.7:0,0:0,0:61,49:77,102:18,28:XM_003403420.2(LOC100652824) c.1013-44C>A,-:0.43,-:NOT_FOUND,- 2 202965173 . G . . NT END=202967668;NT GT ./. 2 202965222 rs6726731 A G 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.1155+50A>G;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:14:0:0:21,18:673,622:0.00,59.10:0.00,11.10:0.00,48.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,47.7:0,0:0,0:112,84:36,59:22,27:-,XM_003403420.2(LOC100652824) c.1155+50A>G:-,0.43:-,NOT_FOUND 2 202965360 rs6755553 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.1155+188C>T;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,T:11:0:0:0:6,5:145,162:0.00,15.35:0.00,0.00:0.00,15.35:0.00,0.93:0.00,0.00:0.00,0.93:60,60:14.5,39.4:0,0:0,0:94,125:55,25:28,6:-,XM_003403420.2(LOC100652824) c.1155+188C>T:-,0.43:-,NOT_FOUND 2 202967838 . G . . NT END=202970483;NT GT ./. 2 202970250 rs12997625 C T 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.1325-234C>T;VC=Intron;DM=KIAA2012/DUF4670 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:C,T:10:10:0:0:6,4:156,133:0.00,12.30:0.00,12.30:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:25.7,58.5:0,0:0,0:36,16:113,135:19,11:-,XM_003403420.2(LOC100652824) c.1325-234C>T:-,0.34:-,NOT_FOUND 2 202970739 . G . . NT END=202974335;NT GT ./. 2 202974513 . G . . NT END=202978058;NT GT ./. 2 202978170 . G . . NT END=202989936;NT GT ./. 2 202978198 . G GT 12 rn VT=INS;SST=Single;DP=45;NP=2;Gene=KIAA2012/NM_001277372.1/1;CC=c.1867+41dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,T,GT,D:45:18:5:1:38,1,5,1:1246,33,162,31:0.00,1.76,11.88,1.56:0.00,-0.11,-0.56,0.86:0.00,1.86,12.44,0.70:0.00,0.00,0.74,0.00:0.00,0.00,0.79,0.00:0.00,0.00,0.96,0.00:60,60,60,60:7.0,72.0,4.4,0.0:0,1,0,0:0,0,0,0:125,84,102,115:23,67,48,34:15,0,15,0:-,XM_003403420.2(LOC100652824) c.1867+29_1867+30insT:-,NOT_FOUND:-,NOT_FOUND 2 202990006 . G . . NT END=203003154;NT GT ./. 2 203003232 . G . . NT END=203019395;NT GT ./. 2 203019534 . G . . NT END=203030006;NT GT ./. 2 203029951 rs7582695 T A 131 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KIAA2012/NM_001277372.1/1;CC=c.2152-56T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:32:0:0:36:1140:131.09:102.61:28.48:1.00:1.00:1.00:60:43.0:0:0:45:101:29:chr2 g.203029950T>A (intergenic),chr2 g.203029950T>A (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 2 203030080 . G . . NT END=203049475;NT GT ./. 2 203049567 . G . . NT END=203051655;NT GT ./. 2 203049750 rs2204880 A G 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=97;Gene=KIAA2012/NM_001277372.1/1;CC=c.2315+184A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:402:46.36:0.00:46.36:1.00:0.00:1.00:60:43.6:0:0:123:28:19:chr2 g.203049749A>G (intergenic),chr2 g.203049749A>G (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 203051374 rs71425921 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.2316-282A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:5:0:0:3,2:91,71:0.00,6.59:0.00,6.59:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:15.0,43.5:0,0:0,0:40,32:111,117:1,26:-,chr2 g.203051373A>G (intergenic):-,0.07:-,NOT_FOUND 2 203051822 . G . . NT END=203052874;NT GT ./. 2 203051886 rs6722588 C T 132 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.2481+65C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:A,T:37:14:0:0:1,36:10,1151:0.23,131.83:0.00,27.69:0.23,104.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:113.0,38.6:0,0:0,0:16,104:134,44:0,29:chr2 g.203051885C>T (intergenic),chr2 g.203051885C>T (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 2 203052947 rs35468542 G A 114 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.002;Gene=KIAA2012/NM_001277372.1/1;CC=c.2554G>A;ProtCh=p.E852K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:79:52:0:0:37,42:1197,1307:113.69,0.00:44.12,0.00:69.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,7.5:0,0:0,0:91,56:58,91:21,27:chr2 g.203052946G>A (intergenic),-:0.07,-:NOT_FOUND,- 2 203052990 . G . . NT END=203054896;NT GT ./. 2 203054810 rs79156159 C CA 14 rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.220;Gene=KIAA2012/NM_001277372.1/1;CC=c.2597-76_2597-75insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,CA,D:36:35:6:1:29,6,1:908,181,33:0.00,14.01,1.87:0.00,12.10,1.87:0.00,1.90,0.00:0.00,0.89,0.00:0.00,0.99,0.00:0.00,0.45,0.00:60,60,60:4.9,17.8,0.0:0,0,0:0,0,0:33,63,32:117,87,119:21,18,0:-,chr2 g.203054810_203054811insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 203055217 . G . . NT END=203058023;NT GT ./. 2 203057788 rs71425922 A T 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.002;Gene=KIAA2012/NM_001277372.1/1;CC=c.2917-236A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,C,T:16:16:0:0:4,1,11:73,11,321:0.00,0.38,33.54:0.00,0.38,33.54:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:64.8,225.0,67.6:0,0,0:0,0,0:28,13,34:120,138,115:7,0,19:-,chr2 g.203057787A>T (intergenic):-,0.07:-,NOT_FOUND 2 203057846 rs71425923 T C 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.031;Gene=KIAA2012/NM_001277372.1/1;CC=c.2917-178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:C,T:23:23:0:0:16,7:467,200:48.18,0.00:48.18,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:74.4,22.7:0,0:0,0:75,31:75,120:20,24:chr2 g.203057845T>C (intergenic),-:0.08,-:NOT_FOUND,- 2 203058227 . G . . NT END=203058912;NT GT ./. 2 203058233 rs13024221 T C 146 nt VT=SNV;PN=T;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KIAA2012/NM_001277372.1/1;CC=c.3119+7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:95:49:0:0:48,47:1520,1443:146.36,0.00:61.23,0.00:85.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,15.6:0,0:0,0:106,92:43,58:29,28:chr2 g.203058232T>C (intergenic),-:0.08,-:NOT_FOUND,- 2 203058623 rs34746021 C T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.3120-290C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:5:5:0:0:1,4:34,118:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:24.0,53.5:0,0:0,0:42,82:109,65:0,18:-,chr2 g.203058622C>T (intergenic):-,0.07:-,NOT_FOUND 2 203058861 rs34823131 A G 77 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=KIAA2012/NM_001277372.1/1;CC=c.3120-52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:61:54:0:0:35,26:1165,824:0.00,76.70:0.00,56.89:0.00,19.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.3,45.9:0,0:0,0:57,48:90,101:19,19:-,chr2 g.203058860A>G (intergenic):-,0.07:-,NOT_FOUND 2 203059086 . G . . NT END=203061522;NT GT ./. 2 203059214 rs397732890 A AT 106 sb,nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=70;Gene=KIAA2012/NM_001277372.1/1;CC=c.3292+134dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:A,AT:33:1:31:0:2,31:64,945:0.00,105.99:0.00,1.87:0.00,104.12:0.00,1.00:0.00,0.96:0.00,1.00:60,60:0.0,9.8:0,0:0,0:150,92:1,51:0,29:chr2 g.203059214_203059215insT (intergenic),chr2 g.203059214_203059215insT (intergenic):0.42,0.42:NOT_FOUND,NOT_FOUND 2 203061774 . G . . NT END=203071975;NT GT ./. 2 203062078 rs12988414 C T 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:107:12.56:0.00:12.56:1.00:0.00:1.00:60:89.2:0:0:97:45:9:chr2 g.203062077C>T (intergenic),chr2 g.203062077C>T (intergenic):0.32,0.32:NOT_FOUND,NOT_FOUND 2 203064494 rs2350358 C G 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:4:0:0:14:477:54.38:11.88:42.50:1.00:1.00:1.00:60:37.1:0:0:63:87:29:chr2 g.203064493C>G (intergenic),chr2 g.203064493C>G (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 2 203065338 rs36179190 GA G 20 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=141;PC=0.053;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:20:13:0:8:12,8:387,217:0.00,19.67:0.00,8.79:0.00,10.88:0.00,0.99:0.00,1.00:0.00,1.00:60,60:2.2,16.9:0,0:0,0:77,69:71,81:9,13:-,chr2 g.203065339delA (intergenic):-,0.07:-,NOT_FOUND 2 203065516 rs11690318 G A,T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,T:4:2:0:0:3,1:96,11:10.66,0.98:3.75,0.98:6.90,0.00:0.85,0.00:0.95,0.00:0.95,0.00:60,60:44.7,18.0:0,0:0,0:119,44:-2,107:8,0:chr2 g.203065515G>A (intergenic),chr2 g.203065515G>T (intergenic):0.24,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 203066048 rs12693962 G T 90 nt VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:70:55:0:0:40,30:1284,964:0.00,89.94:0.00,63.20:0.00,26.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,67.5:0,0:0,0:66,58:84,92:30,28:-,chr2 g.203066047G>T (intergenic):-,0.24:-,NOT_FOUND 2 203066050 rs12693963 G C 90 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:70:55:0:0:29,41:972,1289:90.42,0.00:64.43,0.00:25.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.3,15.1:0,0:0,0:60,59:90,91:33,31:chr2 g.203066049G>C (intergenic),-:0.34,-:NOT_FOUND,- 2 203066286 rs4673234 G T 429 nt VT=SNV;PN=C;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:114:75:0:0:114:3745:428.66:216.51:212.16:1.00:1.00:1.00:60:39.5:0:0:85:65:32:chr2 g.203066285G>T (intergenic),chr2 g.203066285G>T (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 2 203072045 . C . . NT END=203075457;NT GT ./. 2 203075530 . C . . NT END=203079079;NT GT ./. 2 203079025 . T TA 11 idl,rn VT=INS;SST=Single;DP=20;NP=2;PC=0.398;Gene=SUMO1/NM_001005781.1/0;CC=c.165+54dupT;VC=Intron;Gene=SUMO1/NM_001005782.1/0;CC=c.90+54dupT;VC=Intron;Gene=SUMO1/NM_003352.4/1;CC=c.165+54dupT;VC=Intron;DM=SUMO1/Rad60-SLD;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:T,TA,D:19:18:5:2:13,4,2:408,146,65:0.00,11.05,4.86:0.00,11.34,5.00:0.00,-0.29,-0.14:0.00,0.71,0.00:0.00,0.95,0.00:0.00,0.71,0.00:60,60,60:2.3,8.5,0.0:0,1,0:0,0,0:40,35,53:109,115,98:19,19,33:-,NM_003352.4(SUMO1) c.165+54_165+55insT:-,NOT_FOUND:-,NOT_FOUND 2 203079158 . C . . NT END=203084754;NT GT ./. 2 203079307 rs3769817 T C 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.090;Gene=SUMO1/NM_001005781.1/0;CC=c.88-150A>G;VC=Intron;Gene=SUMO1/NM_001005782.1/0;CC=c.13-150A>G;VC=Intron;Gene=SUMO1/NM_003352.4/1;CC=c.88-150A>G;VC=Intron;DM=SUMO1/Rad60-SLD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:373:42.55:0.00:42.55:1.00:0.00:1.00:60:44.5:0:0:129:22:15:NM_003352.4(SUMO1) c.88-150A>G,NM_003352.4(SUMO1) c.88-150A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 203084830 . C . . NT END=203103162;NT GT ./. 2 203102912 rs10167674 A G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SUMO1/NM_001005781.1/0;CC=c.12+251T>C;VC=Intron;Gene=SUMO1/NM_001005782.1/0;CC=c.12+251T>C;VC=Intron;Gene=SUMO1/NM_003352.4/1;CC=c.12+251T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.10:14.10:0.00:1.00:1.00:0.00:60:72.0:0:0:46:105:22:NM_003352.4(SUMO1) c.12+251T>C,NM_003352.4(SUMO1) c.12+251T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 203103175 . G . . NT END=203130664;NT GT ./. 2 203130632 rs148667174 G C 90 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NOP58/NM_015934.3/1;CC=c.-33G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:70:55:0:0:29,41:967,1323:89.91,0.00:46.54,0.00:43.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,6.6:0,0:0,0:54,53:93,96:23,17:NM_015934.3(NOP58) c.-33G>C,-:0.01,-:0.026372,- 2 203130710 . G . . NT END=203139835;NT GT ./. 2 203130941 rs6756580 G A 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NOP58/NM_015934.3/1;CC=c.45+232G>A;VC=Intron;DM=NOP58/NOP5NT;DM=NOP58/NOP5NT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:259:29.71:0.00:29.71:1.00:0.00:1.00:60:49.6:0:0:125:25:14:NM_015934.3(NOP58) c.45+232G>A,NM_015934.3(NOP58) c.45+232G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 203139738 rs386392334 A AC 59 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2395;PC=0.001;Gene=NOP58/NM_015934.3/1;CC=c.46-97dupC;VC=Intron;DM=NOP58/NOP5NT;DM=NOP58/NOP5NT;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:AC:16:15:16:0:16:517:59.33:54.56:4.76:1.00:1.00:1.00:60:4.2:0:0:59:91:36:NM_015934.3(NOP58) c.46-98_46-97insC,NM_015934.3(NOP58) c.46-98_46-97insC:0.99,0.99:NOT_FOUND,NOT_FOUND 2 203139913 . G . . NT END=203142672;NT GT ./. 2 203142726 . G . . NT END=203147073;NT GT ./. 2 203147196 . G . . NT END=203149067;NT GT ./. 2 203149026 . CT C 18 rn VT=DEL;SST=Single;DP=44;NP=25;PC=0.002;Gene=NOP58/NM_015934.3/1;CC=c.298-31delT;VC=Intron;DM=NOP58/Nop;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:CT,I,C:44:37:2:7:35,2,7:1143,67,229:0.00,4.26,18.02:0.00,3.15,5.38:0.00,1.12,12.64:0.00,0.00,0.93:0.00,0.00,0.99:0.00,0.00,0.91:60,60,60:12.4,0.0,6.0:0,0,0:0,0,0:46,71,86:103,78,65:32,32,14:-,NM_015934.3(NOP58) c.298-41delT:-,NOT_FOUND:-,0.101542 2 203149205 . G . . NT END=203152382;NT GT ./. 2 203152123 . T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;PC=0.002;Gene=NOP58/NM_015934.3/1;CC=c.435-260T>C;VC=Intron;DM=NOP58/Nop GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,T:5:5:0:0:3,2:104,56:10.37,0.00:10.37,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:70,60:50.3,35.0:0,0:0,0:13,11:137,139:8,5:NM_015934.3(NOP58) c.435-260T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 203152183 rs374764253 G GT 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=112;Gene=NOP58/NM_015934.3/1;CC=c.435-189dupT;VC=Intron;DM=NOP58/Nop;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:G,GT:7:7:3:0:4,3:137,83:0.00,7.65:0.00,7.65:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,70:24.5,41.0:0,0:0,0:60,76:90,74:9,10:-,NM_015934.3(NOP58) c.435-200_435-199insT:-,NOT_FOUND:-,NOT_FOUND 2 203152355 rs7572505 G A 51 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.102;Gene=NOP58/NM_015934.3/1;CC=c.435-28G>A;VC=Intron;DM=NOP58/Nop GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:27:0:0:16,16:526,520:50.61,0.00:32.73,0.00:17.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.9,9.1:0,0:0,0:44,22:100,128:21,20:NM_015934.3(NOP58) c.435-28G>A,-:0.31,-:0.343226,- 2 203152448 . G . . NT END=203155045;NT GT ./. 2 203155015 rs11310035 GT G 52 nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=1557;Gene=NOP58/NM_015934.3/1;CC=c.500-27delT;VC=Intron;DM=NOP58/Nop;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:47:37:0:19:28,19:913,569:0.00,52.19:0.00,39.06:0.00,13.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,4.6:0,0:0,0:51,48:94,98:39,27:-,NM_015934.3(NOP58) c.500-30delT:-,0.31:-,NOT_FOUND 2 203155181 . G . . NT END=203155847;NT GT ./. 2 203155994 . G . . NT END=203157499;NT GT ./. 2 203157627 . G . . NT END=203160396;NT GT ./. 2 203160561 . G . . NT END=203162101;NT GT ./. 2 203160786 rs397689649 A AT 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;Gene=NOP58/NM_015934.3/1;CC=c.1071+233dupT;VC=Intron;DM=NOP58/Nop;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AT:4:0:3:0:1,3:34,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,70:0.0,0.0:0,0:0,0:111,106:40,45:0,5:-,NM_015934.3(NOP58) c.1071+226_1071+227insT:-,0.07:-,NOT_FOUND 2 203162237 . G . . NT END=203162567;NT GT ./. 2 203162630 . G . . NT END=203164956;NT GT ./. 2 203165091 . G . . NT END=203167643;NT GT ./. 2 203167781 . G . . NT END=203168108;NT GT ./. 2 203168160 . C . . NT END=203242197;NT GT ./. 2 203168173 rs1054446 C T 89 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=NOP58/NM_015934.3/1;CC=c.*14C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:38:0:0:23,27:725,908:0.00,88.70:0.00,45.59:0.00,43.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,42.7:0,0:0,0:67,67:83,79:40,35:-,NM_015934.3(NOP58) c.*14C>T:-,0.07:-,0.094738 2 203168437 rs13029433 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:6:0:0:0:3,3:101,103:9.72,0.00:0.00,0.00:9.72,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:41.0,0.0:0,0:0,0:116,93:34,57:12,21:chr2 g.203168436G>A (intergenic),-:0.31,-:NOT_FOUND,- 2 203188112 rs71031887 TTGTGTG T,TTGTGTGTG 7 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:TTGTGTG,TTGTGTGTG,T:4:4:2:2:1,2,1:29,67,54:0.00,6.64,2.68:0.00,4.90,1.29:0.00,1.74,1.39:0.00,0.46,0.00:0.00,0.87,0.00:0.00,0.80,0.00:60,60,60:0.0,0.0,10.0:0,0,1:0,0,0:120,30,77:31,103,74:0,19,29:chr2 g.203188113_203188118delTGTGTG (intergenic),chr2 g.203188117_203188118dupTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 203241234 rs570604902 A AGGCGGCGGC 105 idl,nt VT=INS;SST=Single;DP=79;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=19;NP=4;PC=0.998;Gene=BMPR2/NM_001204.6/1;CC=c.-928_-927insGGCGGCGGC;VC=5UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGGCGGCGGC:72:60:45:0:34,38:1111,1284:0.00,104.76:0.00,44.32:0.00,60.44:0.00,1.00:0.00,1.00:0.00,1.00:60,70:23.8,26.5:0,7:0,0:83,72:41,75:26,19:-,NM_001204.6(BMPR2) c.-963GGC[15]:-,NOT_FOUND:-,NOT_FOUND 2 203242274 . G . . NT END=203329531;NT GT ./. 2 203313638 rs7589059 T C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=BMPR2/NM_001204.6/1;CC=c.77-15894T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:5:4:0:0:4,1:126,31:13.42,0.00:7.90,0.00:5.52,0.00:0.96,0.00:1.00,0.00:0.99,0.00:60,60:31.5,9.0:0,0:0,0:89,122:41,29:33,0:NM_001204.6(BMPR2) c.77-15894T>C,-:0.29,-:NOT_FOUND,- 2 203329703 . G . . NT END=203332241;NT GT ./. 2 203332413 . G . . NT END=203378441;NT GT ./. 2 203378398 rs397872803 CT C 63 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=716;PC=0.014;Gene=BMPR2/NM_001204.6/1;CC=c.419-38delT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:35:32:0:21:14,21:459,633:0.00,63.09:0.00,53.48:0.00,9.61:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.0,11.6:0,0:0,0:36,48:110,103:14,34:-,NM_001204.6(BMPR2) c.419-43delT:-,0.1:-,0.1273 2 203378553 . G . . NT END=203379610;NT GT ./. 2 203378616 rs7575056 C T 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=BMPR2/NM_001204.6/1;CC=c.529+64C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,T:17:1:0:0:5,12:122,401:0.00,41.39:0.00,3.23:0.00,38.16:0.00,1.00:0.00,0.80:0.00,1.00:60,60:8.4,39.1:0,0:0,0:71,93:79,57:6,29:-,NM_001204.6(BMPR2) c.529+64C>T:-,0.09:-,NOT_FOUND 2 203379703 . G . . NT END=203383544;NT GT ./. 2 203379805 rs77506341 C G 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=BMPR2/NM_001204.6/1;CC=c.621+103C>G;VC=Intron;DM=BMPR2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:17:1:0:0:7,10:219,291:0.00,28.82:0.00,-0.19:0.00,29.01:0.00,1.00:0.00,0.73:0.00,1.00:60,60:3.3,36.6:0,0:0,0:67,118:83,32:39,26:-,NM_001204.6(BMPR2) c.621+103C>G:-,0.01:-,NOT_FOUND 2 203383776 . G . . NT END=203384809;NT GT ./. 2 203384776 rs571821297 C CT 42 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=802;Gene=BMPR2/NM_001204.6/1;CC=c.853-22dupT;VC=Intron;DM=BMPR2/Pkinase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,CT:14:18:18:0:2,12:59,583:0.00,41.86:0.00,34.80:0.00,7.06:0.00,1.00:0.00,1.00:0.00,0.78:60,60:0.0,63.9:0,6:0,0:77,48:65,97:45,28:-,NM_001204.6(BMPR2) c.853-34_853-33insT:-,NOT_FOUND:-,NOT_FOUND 2 203384925 . G . . NT END=203395516;NT GT ./. 2 203395392 rs67365959 CTCT C 31 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=139;Gene=BMPR2/NM_001204.6/1;CC=c.968-123_968-121delCTT;VC=Intron;DM=BMPR2/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:CTCT,C:14:13:0:10:4,10:128,303:0.00,31.43:0.00,26.33:0.00,5.10:0.00,1.00:0.00,1.00:0.00,0.93:60,60:13.5,25.3:0,0:0,0:16,31:133,119:3,16:-,NM_001204.6(BMPR2) c.968-124_968-122delTCT:-,0.08:-,NOT_FOUND 2 203395678 . G . . NT END=203397307;NT GT ./. 2 203397456 . G . . NT END=203407033;NT GT ./. 2 203407171 . G . . NT END=203417438;NT GT ./. 2 203417391 rs539397286 AT A 13 rn VT=DEL;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=39;Gene=BMPR2/NM_001204.6/1;CC=c.1414-37delT;VC=Intron;DM=BMPR2/Pkinase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:AT,I,A:58:55:2:6:50,2,6:1529,63,189:0.00,3.57,13.49:0.00,3.69,13.85:0.00,-0.11,-0.35:0.00,0.00,0.82:0.00,0.00,0.99:0.00,0.00,0.65:60,60,60:18.1,6.0,3.5:0,0,0:0,0,0:61,14,21:86,136,128:34,10,10:-,NM_001204.6(BMPR2) c.1414-47delT:-,NOT_FOUND:-,0.071725 2 203417612 . G . . NT END=203419974;NT GT ./. 2 203421255 . G . . NT END=203424418;NT GT ./. 2 203421482 rs6435155 C T 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.003;Gene=BMPR2/NM_001204.6/1;CC=c.2866+228C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:C,T:10:1:0:0:5,5:149,136:0.00,12.91:0.00,-0.30:0.00,13.22:0.00,1.00:0.00,0.67:0.00,1.00:60,60:16.0,45.2:0,0:0,0:104,100:47,51:37,27:-,NM_001204.6(BMPR2) c.2866+228C>T:-,0.4:-,NOT_FOUND 2 203424670 . A . . NT END=203499910;NT GT ./. 2 203499717 rs537447869 AGCGGCG A 30 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=149;PC=0.232;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGCGGCG,A:28:29:0:11:18,10:576,366:0.00,30.15:0.00,30.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:46.3,7.0:0,1:0,0:19,34:131,116:15,16:-,NM_173511.3(FAM117B) c.-10-u183_-10-u178delGCGGCG:-,NOT_FOUND:-,NOT_FOUND 2 203499720 rs933969 G A 67 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.217 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A,G:19:19:0:11:18,1:604,33:67.28,0.00:67.28,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,33:48.0,0.0:0,0:0,0:19,130:132,15:12,0:NM_173511.3(FAM117B) c.-10-u181G>A,NM_173511.3(FAM117B) c.-10-u181G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 2 203500512 . G . . NT END=203560603;NT GT ./. 2 203500651 rs71852817 TG T 139 sb,nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=412;PC=0.046;Gene=FAM117B/NM_173511.3/1;CC=c.601+145delG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:TG,T:51:6:0:43:9,42:229,1295:0.00,139.31:0.00,-1.10:0.00,140.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,15.7:0,0:0,0:147,107:4,44:2,26:-,NM_173511.3(FAM117B) c.601+141delG:-,NOT_FOUND:-,NOT_FOUND 2 203560756 . G . . NT END=203589639;NT GT ./. 2 203589733 . G . . NT END=203590972;NT GT ./. 2 203591087 . G . . NT END=203620260;NT GT ./. 2 203620405 . G . . NT END=203621935;NT GT ./. 2 203621756 rs59752321 C T 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=FAM117B/NM_173511.3/1;CC=c.1105-180C>T;VC=Intron;DM=FAM117B/FAM117 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:20:0:0:11,9:375,296:0.00,27.92:0.00,27.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:22.1,44.1:0,0:0,0:30,58:121,93:17,21:-,NM_173511.3(FAM117B) c.1105-180C>T:-,0.42:-,NOT_FOUND 2 203622162 . G . . NT END=203623955;NT GT ./. 2 203624077 . G . . NT END=203630168;NT GT ./. 2 203624280 rs554908259 AT A 11 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=2;PC=0.044;Gene=FAM117B/NM_173511.3/1;CC=c.1451+222delT;VC=Intron;DM=FAM117B/FAM117;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:AT,I,A:15:0:1:6:10,1,4:292,33,192:0.00,2.29,10.93:0.00,0.00,0.00:0.00,2.29,10.93:0.00,0.00,0.74:0.00,0.00,0.00:0.00,0.00,0.74:60,60,60:15.4,33.0,25.2:0,0,2:0,0,0:145,79,84:5,72,66:3,0,31:-,NM_173511.3(FAM117B) c.1451+205delT:-,NOT_FOUND:-,NOT_FOUND 2 203630019 rs57454651 T G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.008;Gene=FAM117B/NM_173511.3/1;CC=c.1452-150T>G;VC=Intron;DM=FAM117B/FAM117 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:G,T:9:9:0:0:6,3:141,71:14.42,0.00:14.42,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:85.7,28.0:0,0:0,0:63,53:86,98:17,29:NM_173511.3(FAM117B) c.1452-150T>G,-:0.42,-:NOT_FOUND,- 2 203630102 rs373287818 CT C 26 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=31;PC=0.015;Gene=FAM117B/NM_173511.3/1;CC=c.1452-53delT;VC=Intron;DM=FAM117B/FAM117;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:CT,I,C:30:28:4:12:17,4,9:505,130,347:0.00,10.32,26.01:0.00,10.52,20.65:0.00,-0.20,5.36:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.92:60,60,60:60.1,17.2,22.6:0,0,2:0,0,0:26,10,37:117,140,102:16,4,18:-,NM_173511.3(FAM117B) c.1452-66delT:-,NOT_FOUND:-,NOT_FOUND 2 203630488 . G . . NT END=203644255;NT GT ./. 2 203630825 rs7571635 A C 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.296;Gene=FAM117B/NM_173511.3/1;CC=c.*338A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,C,I:11:6:2:0:3,6,2:86,164,66:0.00,16.63,5.81:0.00,4.29,1.34:0.00,12.34,4.48:0.00,0.98,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:3.3,36.0,10.0:0,0,0:0,0,0:93,53,75:58,63,43:44,31,18:-,NM_173511.3(FAM117B) c.*338A>C:-,0.17:-,NOT_FOUND 2 203644372 . C . . NT END=203650640;NT GT ./. 2 203644529 rs112806695 T TG 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=ICA1L/NM_001288623.1/0;CC=c.1334-159_1334-158insC;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.1334-159_1334-158insC;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.1334-159_1334-158insC;VC=Intron;DM=ICA1L/ICA69;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:T,TG:6:0:3:0:3,3:101,101:0.00,9.72:0.00,0.00:0.00,9.72:0.00,0.73:0.00,0.00:0.00,0.73:60,60:42.0,72.3:1,0:0,0:112,53:39,98:28,32:-,NM_138468.4(ICA1L) c.1334-159_1334-158insC:-,NOT_FOUND:-,NOT_FOUND 2 203644533 rs574807500 T G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;PC=0.016;Gene=ICA1L/NM_001288623.1/0;CC=c.1334-162A>C;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.1334-162A>C;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.1334-162A>C;VC=Intron;DM=ICA1L/ICA69 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:G,T:5:0:0:0:3,2:102,67:10.17,0.00:0.00,0.00:10.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:72.3,50.5:3,0:0,0:58,72:93,79:32,44:NM_138468.4(ICA1L) c.1334-162A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 203644537 rs56193304 T G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=9;PC=0.028;Gene=ICA1L/NM_001288623.1/0;CC=c.1334-166A>C;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.1334-166A>C;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.1334-166A>C;VC=Intron;DM=ICA1L/ICA69 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:G,T:5:0:0:0:3,2:102,65:10.17,0.00:0.00,0.00:10.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:72.3,50.5:0,0:0,0:62,76:89,75:32,44:NM_138468.4(ICA1L) c.1334-166A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 203650731 . C . . NT END=203653552;NT GT ./. 2 203653811 . C . . NT END=203661612;NT GT ./. 2 203661688 . C . . NT END=203676468;NT GT ./. 2 203661779 rs6704822 A G 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ICA1L/NM_001288623.1/0;CC=c.911-92T>C;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.911-92T>C;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.911-92T>C;VC=Intron;DM=ICA1L/ICA69;DM=ICA1L/ICA69 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:2:0:0:7:237:27.04:3.88:23.16:1.00:1.00:1.00:60:35.6:0:0:105:45:13:NM_138468.4(ICA1L) c.911-92T>C,NM_138468.4(ICA1L) c.911-92T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 203676382 rs372952757 C CA 15 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.007;Gene=ICA1L/NM_001288623.1/0;CC=c.910+86_910+87insT;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.910+86_910+87insT;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.910+86_910+87insT;VC=Intron;DM=ICA1L/ICA69;DM=ICA1L/ICA69;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:C,CA,D:16:19:6:4:9,5,2:295,196,126:0.00,14.70,5.06:0.00,14.70,5.06:0.00,0.00,0.00:0.00,0.86,0.00:0.00,0.86,0.00:0.00,0.00,0.00:60,60,60:27.9,31.4,36.5:0,1,2:0,0,0:58,57,17:93,69,132:14,36,9:-,NM_138468.4(ICA1L) c.910+86_910+87insT:-,NOT_FOUND:-,NOT_FOUND 2 203676513 . C . . NT END=203679424;NT GT ./. 2 203679306 rs72932767 T C 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ICA1L/NM_001288623.1/0;CC=c.866+119A>G;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.866+119A>G;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.866+119A>G;VC=Intron;DM=ICA1L/ICA69;DM=ICA1L/ICA69 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:C,T:4:3:0:0:2,2:67,46:6.46,0.00:6.75,0.00:-0.29,0.00:0.51,0.00:0.89,0.00:0.67,0.00:60,60:33.5,15.0:0,0:0,0:58,39:92,111:54,36:NM_138468.4(ICA1L) c.866+119A>G,-:0.08,-:NOT_FOUND,- 2 203679508 . C . . NT END=203680633;NT GT ./. 2 203680554 rs374333116 TA T 8 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=157;PC=0.788;Gene=ICA1L/NM_001288623.1/0;CC=c.783+79delT;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.783+79delT;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.783+79delT;VC=Intron;DM=ICA1L/ICA69;DM=ICA1L/ICA69;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:TA,I,T:14:14:1:3:10,1,3:288,31,99:0.00,2.11,8.28:0.00,2.13,8.34:0.00,-0.02,-0.05:0.00,0.00,0.56:0.00,0.00,0.56:0.00,0.00,0.48:60,60,60:28.7,0.0,20.7:0,0,0:0,0,0:48,4,41:101,147,108:39,0,9:-,NM_138468.4(ICA1L) c.783+79delT:-,NOT_FOUND:-,NOT_FOUND 2 203680733 . C . . NT END=203682140;NT GT ./. 2 203682267 . C . . NT END=203684423;NT GT ./. 2 203682304 rs72932772 C G 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ICA1L/NM_001288623.1/0;CC=c.559-38G>C;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.559-38G>C;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.559-38G>C;VC=Intron;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:26:9:0:0:1,11,13,1:9,367,414,12:0.06,0.00,40.36,0.24:-0.02,0.00,16.54,-0.02:0.08,0.00,23.82,0.26:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:86.0,7.5,37.8,22.0:0,0,0,0:0,0,0,0:122,102,113,51:-15,48,34,100:0,29,12,0:-,NM_138468.4(ICA1L) c.559-38G>C:-,0.08:-,0.096151 2 203684623 . C . . NT END=203686080;NT GT ./. 2 203686205 . C . . NT END=203690174;NT GT ./. 2 203686234 rs373910804 GTTTCC G 35 nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=460;PC=0.317;Gene=ICA1L/NM_001288623.1/0;CC=c.236-35_236-31delGGAAA;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.236-35_236-31delGGAAA;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.236-35_236-31delGGAAA;VC=Intron;Gene=ICA1L/NM_001288624.1/0;CC=c.236-35_236-31delGGAAA;VC=Intron;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/ICA69;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTTTCC,G:33:10:0:13:20,13:660,387:0.00,35.28:0.00,9.31:0.00,25.98:0.00,1.00:0.00,0.99:0.00,1.00:60,60:2.6,9.6:0,0:0,0:129,80:17,42:17,26:-,NM_138468.4(ICA1L) c.236-35_236-31delGGAAA:-,0.08:-,0.096132 2 203690047 rs115628302 T G 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ICA1L/NM_001288623.1/0;CC=c.235+371A>C;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.235+371A>C;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.235+371A>C;VC=Intron;Gene=ICA1L/NM_001288624.1/0;CC=c.235+371A>C;VC=Intron;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/ICA69;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:G,T:9:9:0:0:4,5:105,164:9.71,0.00:9.71,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:34.0,10.6:0,0:0,0:105,46:46,105:26,19:NM_138468.4(ICA1L) c.235+371A>C,-:0.08,-:NOT_FOUND,- 2 203690387 rs1344959 G A 168 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.019;Gene=ICA1L/NM_001288623.1/0;CC=c.235+31C>T;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.235+31C>T;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.235+31C>T;VC=Intron;Gene=ICA1L/NM_001288624.1/0;CC=c.235+31C>T;VC=Intron;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/ICA69;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:A:46:19:0:0:46:1457:167.56:49.75:117.81:1.00:1.00:1.00:60:34.0:0:0:78:72:34:NM_138468.4(ICA1L) c.235+31C>T,NM_138468.4(ICA1L) c.235+31C>T:0.87,0.87:0.881668,0.881668 2 203690491 . C . . NT END=203693570;NT GT ./. 2 203693559 rs4675296 C G 168 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ICA1L/NM_001288623.1/0;CC=c.162+12G>C;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.162+12G>C;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.162+12G>C;VC=Intron;Gene=ICA1L/NM_001288624.1/0;CC=c.162+12G>C;VC=Intron;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin;DM=ICA1L/Arfaptin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:39:0:0:45:1465:167.86:118.24:49.62:1.00:1.00:1.00:60:41.9:0:0:42:102:28:NM_138468.4(ICA1L) c.162+12G>C,NM_138468.4(ICA1L) c.162+12G>C:0.87,0.87:0.883054,0.883054 2 203693740 . C . . NT END=203745582;NT GT ./. 2 203693914 rs143805266 A C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.023;Gene=ICA1L/NM_001288623.1/0;CC=c.-7-175T>G;VC=Intron;Gene=ICA1L/NM_001288622.1/0;CC=c.-7-175T>G;VC=Intron;Gene=ICA1L/NM_138468.5/1;CC=c.-7-175T>G;VC=Intron;Gene=ICA1L/NM_001288624.1/0;CC=c.-182T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:A,C:10:1:0:0:5,5:161,141:0.00,13.45:0.00,3.48:0.00,9.97:0.00,1.00:0.00,0.67:0.00,1.00:60,60:0.0,30.4:0,0:0,0:124,55:27,95:11,26:-,NM_138468.4(ICA1L) c.-7-175T>G:-,0.08:-,NOT_FOUND 2 203745661 . C . . NT END=203747433;NT GT ./. 2 203745885 rs6725887 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.007;Gene=WDR12/NM_018256.3/1;CC=c.1195-225A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:6:0:0:0:3,3:106,90:10.23,0.00:0.00,0.00:10.23,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:35.3,0.0:0,0:0,0:119,81:31,70:15,15:NM_018256.3(WDR12) c.1195-225A>G,-:0.07,-:NOT_FOUND,- 2 203747507 . C . . NT END=203748331;NT GT ./. 2 203747522 rs72934751 A G 57 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.049;Gene=WDR12/NM_018256.3/1;CC=c.1122-16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:24:0:0:20,18:647,596:0.00,56.77:0.00,22.27:0.00,34.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,33.7:0,0:0,0:89,113:51,32:15,28:-,NM_018256.3(WDR12) c.1122-16T>C:-,0.07:-,0.097447 2 203748465 . C . . NT END=203748920;NT GT ./. 2 203748544 rs539607004 A AT 66 idl,rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1519;NP=28;PC=0.979;Gene=WDR12/NM_018256.3/1;CC=c.989-81_989-80insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:31:17:29:0:10,1,20:326,32,937:0.00,1.97,65.91:0.00,-0.02,20.66:0.00,1.99,45.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:34.7,96.0,25.1:0,1,9:0,0,0:134,100,94:10,51,52:10,0,24:-,NM_018256.3(WDR12) c.989-81_989-80insA:-,NOT_FOUND:-,NOT_FOUND 2 203748594 rs10196719 A G 71 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.003;Gene=WDR12/NM_018256.3/1;CC=c.989-130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:4:0:0:19:623:71.36:11.93:59.43:1.00:1.00:1.00:60:52.4:0:0:117:34:20:NM_018256.3(WDR12) c.989-130T>C,NM_018256.3(WDR12) c.989-130T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 203748776 rs143035655 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=WDR12/NM_018256.3/1;CC=c.988+145A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:10:8:0:0:5,5:160,162:15.37,0.00:12.30,0.00:3.08,0.00:1.00,0.00:0.87,0.00:0.79,0.00:60,60:41.4,23.8:0,0:0,0:65,39:84,112:18,25:NM_018256.3(WDR12) c.988+145A>G,-:0.07,-:NOT_FOUND,- 2 203749027 . C . . NT END=203749117;NT GT ./. 2 203749259 . C . . NT END=203757339;NT GT ./. 2 203749392 rs182675355 C CTTT 44 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=123;PC=0.001;Gene=WDR12/NM_018256.3/1;CC=c.742-135_742-134insAAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,CTTT:13:0:12:0:1,12:31,394:0.00,43.59:0.00,0.00:0.00,43.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:31.0,6.8:0,0:0,0:148,113:3,37:0,21:NM_018256.3(WDR12) c.742-135_742-134insAAA,NM_018256.3(WDR12) c.742-135_742-134insAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 203757426 . C . . NT END=203759303;NT GT ./. 2 203759350 . C . . NT END=203760787;NT GT ./. 2 203760943 . C . . NT END=203762022;NT GT ./. 2 203761156 rs147330550 TA T 11 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=16;PC=0.002;Gene=WDR12/NM_018256.3/1;CC=c.455-215delT;VC=Intron;DM=WDR12/WD40;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:TA,T:9:0:0:4:5,4:167,115:0.00,10.72:0.00,0.00:0.00,10.72:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,7.5:0,0:0,0:61,108:90,41:13,15:-,NM_018256.3(WDR12) c.455-215delT:-,0.07:-,NOT_FOUND 2 203762139 . C . . NT END=203764253;NT GT ./. 2 203764361 . C . . NT END=203765747;NT GT ./. 2 203765756 rs35212307 T C 77 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=1.000;Gene=WDR12/NM_018256.3/1;CC=c.223A>G;ProtCh=p.I75V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:41:0:0:25,25:805,810:77.36,0.00:54.60,0.00:22.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,12.0:0,0:0,0:47,36:103,108:27,21:NM_018256.3(WDR12) c.223A>G (p.Ile75Val),-:0.07,-:0.09734,- 2 203765843 . C . . NT END=203772587;NT GT ./. 2 203772683 . C . . NT END=203776158;NT GT ./. 2 203776200 . G . . NT END=203806625;NT GT ./. 2 203806437 rs140061969 GTTAATTTT G 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=76;PC=0.438;Gene=CARF/NM_001104586.2/0;CC=c.-43-140_-43-133delTTTTTAAT;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.-43-140_-43-133delTTTTTAAT;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.-43-140_-43-133delTTTTTAAT;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.43-10839_43-10832delTTTTTAAT;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.-43-140_-43-133delTTTTTAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GTTAATTTT,G:4:4:0:3:1,3:36,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,0.0:0,0:0,0:83,39:68,110:0,20:-,NM_024744.14(ALS2CR8) c.-43-145_-43-138delTTAATTTT:-,0.07:-,NOT_FOUND 2 203806704 . G . . NT END=203807241;NT GT ./. 2 203806724 rs75869289 C T 72 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.064;Gene=CARF/NM_001104586.2/0;CC=c.78+21C>T;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.78+21C>T;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.78+21C>T;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.43-10558C>T;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.78+21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:19:0:0:16,22:543,732:0.00,72.46:0.00,24.00:0.00,48.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,39.1:0,0:0,0:82,95:68,56:24,30:-,NM_024744.14(ALS2CR8) c.78+21C>T:-,0.07:-,0.096656 2 203807280 . G . . NT END=203807462;NT GT ./. 2 203807691 . G . . NT END=203817281;NT GT ./. 2 203808310 rs58097475 T TACACACAC 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;PC=0.002;Gene=CARF/NM_001104586.2/0;CC=c.306+663_306+664insCACACACA;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.78+1650_78+1651insCACACACA;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.78+1650_78+1651insCACACACA;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.43-8929_43-8928insCACACACA;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.306+663_306+664insCACACACA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:T,TACACACAC:4:3:2:0:2,2:67,66:0.00,6.35:0.00,5.01:0.00,1.34:0.00,0.51:0.00,0.89:0.00,0.89:60,60:5.5,25.5:0,0:0,0:67,43:83,94:4,4:-,NM_024744.14(ALS2CR8) c.306+620_306+621insACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 203817257 rs372834592 A AT 65 idl,rn VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=137;Gene=CARF/NM_001104586.2/0;CC=c.307-13dupT;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.79-13dupT;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.79-13dupT;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.43-13dupT;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.307-13dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:60:54:26:1:37,22,1:1113,848,33:0.00,65.45,1.73:0.00,46.15,1.79:0.00,19.30,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.8,5.9,0.0:0,4,0:0,0,0:83,63,27:68,76,124:29,26,0:-,NM_024744.14(ALS2CR8) c.307-25_307-24insT:-,NOT_FOUND:-,NOT_FOUND 2 203817403 . G . . NT END=203818727;NT GT ./. 2 203818575 rs6709618 A G 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=CARF/NM_001104586.2/0;CC=c.428-153A>G;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.200-153A>G;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.200-153A>G;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.164-153A>G;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.428-153A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:346:39.82:39.82:0.00:1.00:1.00:0.00:60:35.6:0:0:49:101:17:NM_024744.14(ALS2CR8) c.428-153A>G,NM_024744.14(ALS2CR8) c.428-153A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 203818858 . G . . NT END=203820396;NT GT ./. 2 203820482 . G . . NT END=203825959;NT GT ./. 2 203826150 . G . . NT END=203831700;NT GT ./. 2 203831822 . G . . NT END=203834641;NT GT ./. 2 203832120 rs72928605 A G 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.928;Gene=CARF/NM_001104586.2/0;CC=c.953+299A>G;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.725+299A>G;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.725+299A>G;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.689+299A>G;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.953+299A>G;VC=Intron;DM=CARF/ALS2CR8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,G:4:0:0:0:2,2:39,69:0.00,6.67:0.00,0.00:0.00,6.67:0.00,0.51:0.00,0.00:0.00,0.51:60,60:4.0,40.5:0,0:0,0:115,128:35,21:9,12:-,NM_024744.14(ALS2CR8) c.953+299A>G:-,0.06:-,NOT_FOUND 2 203834401 rs2052944 C G 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=CARF/NM_001104586.2/0;CC=c.954-241C>G;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.726-241C>G;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.726-241C>G;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.690-241C>G;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.954-241C>G;VC=Intron;DM=CARF/ALS2CR8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:121:14.01:14.01:0.00:1.00:1.00:0.00:60:41.8:0:0:38:112:23:NM_024744.14(ALS2CR8) c.954-241C>G,NM_024744.14(ALS2CR8) c.954-241C>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 203834786 . G . . NT END=203836227;NT GT ./. 2 203836462 . G . . NT END=203839056;NT GT ./. 2 203836507 rs72928608 G C 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=CARF/NM_001104586.2/0;CC=c.1331+46G>C;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.1103+46G>C;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.1103+46G>C;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.1067+46G>C;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.1331+46G>C;VC=Intron;DM=CARF/ALS2CR8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:4:0:0:12,11:309,369:29.60,0.00:5.17,0.00:24.44,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:44.8,9.4:0,0:0,0:112,98:36,53:20,16:NM_024744.14(ALS2CR8) c.1331+46G>C,-:0.07,-:0.097938,- 2 203838961 rs72928610 T C 57 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=CARF/NM_001104586.2/0;CC=c.1332-96T>C;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.1104-96T>C;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.1104-96T>C;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.1068-96T>C;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.1332-96T>C;VC=Intron;DM=CARF/ALS2CR8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:36:0:0:18,18:591,507:56.91,0.00:52.10,0.00:4.81,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:43.7,16.3:0,0:0,0:48,55:102,94:25,38:NM_024744.14(ALS2CR8) c.1332-96T>C,-:0.07,-:NOT_FOUND,- 2 203839220 . G . . NT END=203841991;NT GT ./. 2 203842056 . G . . NT END=203846277;NT GT ./. 2 203846409 . G . . NT END=203846794;NT GT ./. 2 203846817 rs72932557 A T 76 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.838;Gene=CARF/NM_001104586.2/0;CC=c.1712A>T;ProtCh=p.Y571F;VC=Missense;Gene=CARF/NM_001282910.1/0;CC=c.1484A>T;ProtCh=p.Y495F;VC=Missense;Gene=CARF/NM_001282911.1/0;CC=c.1484A>T;ProtCh=p.Y495F;VC=Missense;Gene=CARF/NM_001282912.1/0;CC=c.1448A>T;ProtCh=p.Y483F;VC=Missense;Gene=CARF/NM_024744.15/1;CC=c.1712A>T;ProtCh=p.Y571F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:68:57:0:0:42,26:1285,837:0.00,76.49:0.00,44.80:0.00,31.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,35.8:0,0:0,0:52,61:86,84:34,29:-,NM_024744.14(ALS2CR8) c.1712A>T (p.Tyr571Phe):-,0.07:-,0.099597 2 203847165 . G . . NT END=203848228;NT GT ./. 2 203847325 rs72932558 C G 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.003;Gene=CARF/NM_001104586.2/0;CC=c.2059+161C>G;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.1831+161C>G;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.1831+161C>G;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.1795+161C>G;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.2059+161C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:0:0:0:12,12:298,324:0.00,30.97:0.00,0.00:0.00,30.97:0.00,1.00:0.00,0.00:0.00,1.00:60,60:22.2,68.7:0,0:0,0:106,92:44,58:17,21:-,NM_024744.14(ALS2CR8) c.2059+161C>G:-,0.07:-,NOT_FOUND 2 203847382 rs72932559 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=CARF/NM_001104586.2/0;CC=c.2059+218G>A;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.1831+218G>A;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.1831+218G>A;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.1795+218G>A;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.2059+218G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,G:11:0:0:0:6,5:199,171:19.47,0.00:0.00,0.00:19.47,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:89.7,7.2:0,0:0,0:128,116:22,34:12,8:NM_024744.14(ALS2CR8) c.2059+218G>A,-:0.07,-:NOT_FOUND,- 2 203847417 rs72932560 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.003;Gene=CARF/NM_001104586.2/0;CC=c.2059+253A>G;VC=Intron;Gene=CARF/NM_001282910.1/0;CC=c.1831+253A>G;VC=Intron;Gene=CARF/NM_001282911.1/0;CC=c.1831+253A>G;VC=Intron;Gene=CARF/NM_001282912.1/0;CC=c.1795+253A>G;VC=Intron;Gene=CARF/NM_024744.15/1;CC=c.2059+253A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:7:0:0:0:2,5:67,158:0.00,16.36:0.00,0.00:0.00,16.36:0.00,0.98:0.00,0.00:0.00,0.98:60,60:12.0,76.8:0,0:0,0:117,14:33,137:25,4:-,NM_024744.14(ALS2CR8) c.2059+253A>G:-,0.07:-,NOT_FOUND 2 203848348 . A . . NT END=203881107;NT GT ./. 2 203848402 rs72932561 G A 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CARF/NM_001104586.2/0;CC=c.*55G>A;VC=3UTR;Gene=CARF/NM_001282910.1/0;CC=c.*55G>A;VC=3UTR;Gene=CARF/NM_001282911.1/0;CC=c.*55G>A;VC=3UTR;Gene=CARF/NM_001282912.1/0;CC=c.*55G>A;VC=3UTR;Gene=CARF/NM_024744.15/1;CC=c.*55G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,G:19:2:0:0:6,13:200,389:17.72,0.00:1.63,0.00:16.09,0.00:0.94,0.00:0.61,0.00:1.00,0.00:60,60:37.2,1.0:0,0:0,0:56,89:95,62:16,26:NM_024744.14(ALS2CR8) c.*55G>A,-:0.07,-:NOT_FOUND,- 2 203880992 rs2351524 T C 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.-116T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:24:0:0:11,15:281,475:25.61,0.00:23.09,0.00:2.53,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:49.2,6.5:0,0:0,0:35,58:113,93:34,24:NM_001114132.1(NBEAL1) c.-116T>C,-:0.92,-:NOT_FOUND,- 2 203881159 . G . . NT END=203906487;NT GT ./. 2 203906434 rs35056108 A AT 13 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=5;Gene=NBEAL1/NM_001114132.1/1;CC=c.52-44dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,AT:32:28:6:0:26,6:828,172:0.00,13.36:0.00,6.89:0.00,6.47:0.00,0.89:0.00,0.99:0.00,0.85:60,60:15.1,52.8:0,0:0,0:37,45:112,104:27,23:-,NM_001114132.1(NBEAL1) c.52-54_52-53insT:-,NOT_FOUND:-,NOT_FOUND 2 203906580 . G . . NT END=203914536;NT GT ./. 2 203914699 . G . . NT END=203921149;NT GT ./. 2 203921232 . G . . NT END=203922048;NT GT ./. 2 203921270 rs4673241 A G 77 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.387+39A>G;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:6:0:0:21:674:77.34:15.16:62.18:1.00:1.00:1.00:60:38.6:0:0:114:34:25:NM_001114132.1(NBEAL1) c.387+39A>G,NM_001114132.1(NBEAL1) c.387+39A>G:0.88,0.88:0.900526,0.900526 2 203922177 . G . . NT END=203933115;NT GT ./. 2 203931597 rs151316549 C T 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.079;Gene=NBEAL1/NM_001114132.1/1;CC=c.516-1519C>T;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:15:0:0:9,10:296,301:0.00,29.16:0.00,25.31:0.00,3.85:0.00,1.00:0.00,1.00:0.00,0.99:60,60:70.6,56.7:0,0:0,0:38,26:95,125:15,22:-,NM_001114132.1(NBEAL1) c.516-1519C>T:-,0.08:-,NOT_FOUND 2 203931805 rs7597363 A G 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.868;Gene=NBEAL1/NM_001114132.1/1;CC=c.516-1311A>G;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:12:0:0:25:762:87.97:30.37:57.61:1.00:1.00:1.00:60:61.8:0:0:114:37:24:NM_001114132.1(NBEAL1) c.516-1311A>G,NM_001114132.1(NBEAL1) c.516-1311A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 203933199 . G . . NT END=203942474;NT GT ./. 2 203933339 rs72934514 A G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.083;Gene=NBEAL1/NM_001114132.1/1;CC=c.598+141A>G;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:6:0:0:0:2,4:64,139:0.00,14.15:0.00,0.00:0.00,14.15:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,38.2:0,0:0,0:90,125:59,24:7,8:-,NM_001114132.1(NBEAL1) c.598+141A>G:-,0.06:-,NOT_FOUND 2 203942561 . G . . NT END=203947941;NT GT ./. 2 203948249 . G . . NT END=203949185;NT GT ./. 2 203949293 . G . . NT END=203962269;NT GT ./. 2 203962092 rs7605711 C G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.871;Gene=NBEAL1/NM_001114132.1/1;CC=c.1099-2260C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,G:7:7:0:0:3,4:99,101:0.00,9.90:0.00,9.90:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:21.3,25.2:0,0:0,0:11,77:139,73:3,41:-,NM_001114132.1(NBEAL1) c.1099-2260C>G:-,0.38:-,NOT_FOUND 2 203962357 . G . . NT END=203964351;NT GT ./. 2 203964436 . G . . NT END=203972142;NT GT ./. 2 203964456 . CT C 7 rn VT=DEL;SST=Single;DP=32;NP=19;PC=0.142;Gene=NBEAL1/NM_001114132.1/1;CC=c.1182+33delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:CT,I,C:32:14:1:4:28,1,3:909,34,99:0.00,1.99,7.05:0.00,-0.12,1.06:0.00,2.10,5.99:0.00,0.00,0.41:0.00,0.00,0.65:0.00,0.00,0.85:60,60,60:14.5,0.0,32.0:0,0,0:0,0,0:115,62,72:28,89,43:9,0,11:-,NM_001114132.1(NBEAL1) c.1182+22delT:-,NOT_FOUND:-,0.144418 2 203972242 . G . . NT END=203972330;NT GT ./. 2 203972912 . G . . NT END=203974872;NT GT ./. 2 203975006 . G . . NT END=203976701;NT GT ./. 2 203976822 . G . . NT END=203977737;NT GT ./. 2 203978042 . G . . NT END=203980707;NT GT ./. 2 203980794 . G . . NT END=203986976;NT GT ./. 2 203987067 . G . . NT END=203990074;NT GT ./. 2 203990244 . G . . NT END=203990682;NT GT ./. 2 203990789 rs72934556 T G 44 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.2871T>G;ProtCh=p.V957=;VC=Silent;DM=NBEAL1/DUF4704 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:18:0:0:14,14:455,430:43.77,0.00:20.01,0.00:23.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.7,13.4:0,0:0,0:70,85:78,60:36,26:NM_001114132.1(NBEAL1) c.2871T>G (p.(=)),-:0.07,-:0.089137,- 2 203990817 . G . . NT END=203991279;NT GT ./. 2 203990956 rs2196145 C A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=6;Gene=NBEAL1/NM_001114132.1/1;CC=c.2898+140C>A;VC=Intron;DM=NBEAL1/DUF4704 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,C:13:2:0:0:4,9:127,308:11.12,0.00:3.11,0.00:8.02,0.00:0.79,0.00:0.60,0.00:0.96,0.00:60,60:31.8,12.1:0,0:0,0:41,111:109,39:14,23:NM_001114132.1(NBEAL1) c.2898+140C>A,-:0.01,-:NOT_FOUND,- 2 203991440 . G . . NT END=203991546;NT GT ./. 2 203991488 rs6725469 A G 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.3058+49A>G;VC=Intron;DM=NBEAL1/DUF4704 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:19:0:0:18,26:576,860:0.00,85.44:0.00,24.89:0.00,60.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.3,42.2:0,0:0,0:90,85:61,65:39,41:-,NM_001114132.1(NBEAL1) c.3058+49A>G:-,0.38:-,0.267411 2 203991650 . G . . NT END=203992503;NT GT ./. 2 203992661 . G . . NT END=203995040;NT GT ./. 2 203995200 . G . . NT END=203996695;NT GT ./. 2 203995405 rs72934563 G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NBEAL1/NM_001114132.1/1;CC=c.3477+206G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:0:0:0:3,2:99,69:9.87,0.00:0.00,0.00:9.87,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:51.7,0.0:0,0:0,0:103,112:45,38:3,31:NM_001114132.1(NBEAL1) c.3477+206G>A,-:0.07,-:NOT_FOUND,- 2 203996635 rs9677190 T G 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.3478-61T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:30:0:0:14,20:469,638:43.58,0.00:28.33,0.00:15.25,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:44.6,10.8:0,0:0,0:33,43:117,106:13,19:NM_001114132.1(NBEAL1) c.3478-61T>G,-:0.39,-:NOT_FOUND,- 2 203996856 . G . . NT END=203997780;NT GT ./. 2 203996870 rs6748898 A G 159 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.3637+15A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:G,T:43:18:0:0:42,1:1392,11:158.77,0.25:39.45,0.25:119.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,22.0:0,0:0,0:103,144:44,5:30,0:NM_001114132.1(NBEAL1) c.3637+15A>G,NM_001114132.1(NBEAL1) c.3637+15A>G:0.9,0.9:0.923565,0.923565 2 203997870 . G . . NT END=204000399;NT GT ./. 2 204000976 . G . . NT END=204001321;NT GT ./. 2 204001498 . G . . NT END=204002884;NT GT ./. 2 204001724 rs10932006 G A 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.4478+227G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:225:26.29:0.00:26.29:1.00:0.00:1.00:60:41.6:0:0:97:53:44:NM_001114132.1(NBEAL1) c.4478+227G>A,NM_001114132.1(NBEAL1) c.4478+227G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 204002713 rs112429768 CA C 19 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=264;PC=0.004;Gene=NBEAL1/NM_001114132.1/1;CC=c.4479-157delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:18:19:0:8:11,7:320,239:0.00,18.72:0.00,17.70:0.00,1.02:0.00,0.98:0.00,0.98:0.00,0.58:60,60:53.6,79.9:0,1:0,0:50,39:101,111:46,24:-,NM_001114132.1(NBEAL1) c.4479-171delA:-,NOT_FOUND:-,NOT_FOUND 2 204002728 rs10180704 A G,AG 62 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:A,G,T,AG,D:23:23:3:1:1,18,1,2,1:11,566,9,81,22:0.00,62.32,0.25,3.68,1.30:0.00,58.46,0.25,3.68,1.30:0.00,3.85,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,1.00,0.00,0.00,0.00:0.00,0.83,0.00,0.00,0.00:60,60,60,60,60:68.0,73.2,151.0,84.5,68.0:0,0,0,1,0:0,0,0,0,0:120,25,36,65,38:27,125,111,86,94:0,19,0,30,0:NM_001114132.1(NBEAL1) c.4479-157A>G,NM_001114132.1(NBEAL1) c.4479-157_4479-156insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 204002809 rs10180815 A C 165 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.4479-76A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:120:C,T:47:41:0:0:46,1:1437,10:165.08,0.19:131.85,0.19:33.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.6,80.0:0,0:0,0:52,131:98,20:29,0:NM_001114132.1(NBEAL1) c.4479-76A>C,NM_001114132.1(NBEAL1) c.4479-76A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 204003039 . G . . NT END=204003342;NT GT ./. 2 204003472 . G . . NT END=204009322;NT GT ./. 2 204009629 . G . . NT END=204009733;NT GT ./. 2 204009884 . G . . NT END=204013713;NT GT ./. 2 204013872 . G . . NT END=204016187;NT GT ./. 2 204015972 rs140201293 T C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.011;Gene=NBEAL1/NM_001114132.1/1;CC=c.5376-216T>C;VC=Intron;DM=NBEAL1/DUF4800 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,C,T:11:10:0:0:1,3,7:11,85,223:0.32,7.27,0.00:0.36,7.41,0.00:-0.04,-0.14,0.00:0.00,0.60,0.00:0.00,0.93,0.00:0.00,0.52,0.00:60,60,60:76.0,82.7,4.6:0,0,0:0,0,0:79,131,69:71,11,82:0,9,11:NM_001114132.1(NBEAL1) c.5376-216T>C,-:0.07,-:NOT_FOUND,- 2 204016313 . G . . NT END=204022421;NT GT ./. 2 204022549 . G . . NT END=204030871;NT GT ./. 2 204031021 . G . . NT END=204031949;NT GT ./. 2 204031137 rs72934601 G A 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NBEAL1/NM_001114132.1/1;CC=c.5776+117G>A;VC=Intron;DM=NBEAL1/PH_BEACH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:1:0:0:16,13:480,424:46.92,0.00:-0.17,0.00:47.10,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:34.2,4.5:0,0:0,0:90,89:60,61:35,27:NM_001114132.1(NBEAL1) c.5776+117G>A,-:0.07,-:NOT_FOUND,- 2 204032084 . G . . NT END=204034469;NT GT ./. 2 204032323 rs9288335 C T 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.5910+240C>T;VC=Intron;DM=NBEAL1/PH_BEACH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,T:6:0:0:0:1,5:8,137:0.54,15.67:0.00,0.00:0.54,15.67:0.00,0.99:0.00,0.00:0.00,0.99:60,60:8.0,34.4:0,0:0,0:47,87:104,63:0,4:NM_001114132.1(NBEAL1) c.5910+240C>T,NM_001114132.1(NBEAL1) c.5910+240C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 204034575 . G . . NT END=204036650;NT GT ./. 2 204036545 rs5837845 C CT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=311;Gene=NBEAL1/NM_001114132.1/1;CC=c.6016-92dupT;VC=Intron;DM=NBEAL1/Beach;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CT,D:5:5:3:1:1,3,1:32,97,30:0.00,10.07,2.68:0.00,10.07,2.68:0.00,0.00,0.00:0.00,0.78,0.00:0.00,0.78,0.00:0.00,0.00,0.00:60,60,60:58.0,17.3,47.0:0,0,0:0,0,0:23,77,5:128,73,142:0,11,0:-,NM_001114132.1(NBEAL1) c.6016-106_6016-105insT:-,NOT_FOUND:-,NOT_FOUND 2 204036747 . G . . NT END=204037451;NT GT ./. 2 204037132 rs12999642 A C 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.6112-320A>C;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:199:22.76:16.95:5.82:1.00:1.00:1.00:60:33.2:0:0:76:74:52:NM_001114132.1(NBEAL1) c.6112-320A>C,NM_001114132.1(NBEAL1) c.6112-320A>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 204037577 . G . . NT END=204039869;NT GT ./. 2 204040011 . G . . NT END=204045104;NT GT ./. 2 204040206 rs7600392 G A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.6377+196G>A;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,G:14:0:0:0:10,4:319,136:33.03,0.00:0.00,0.00:33.03,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.4,0.0:0,0:0,0:85,117:65,34:18,7:NM_001114132.1(NBEAL1) c.6377+196G>A,-:0.48,-:NOT_FOUND,- 2 204040296 rs72936309 G T 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.6377+286G>T;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,T:4:0:0:0:1,3:35,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,54.7:0,0:0,0:3,107:144,44:0,16:-,NM_001114132.1(NBEAL1) c.6377+286G>T:-,0.07:-,NOT_FOUND 2 204045236 . G . . NT END=204048001;NT GT ./. 2 204048112 . G . . NT END=204053194;NT GT ./. 2 204052990 rs6435175 T A 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.151;Gene=NBEAL1/NM_001114132.1/1;CC=c.6619-205T>A;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:202:23.50:23.50:0.00:1.00:1.00:0.00:60:36.7:0:0:66:85:55:NM_001114132.1(NBEAL1) c.6619-205T>A,NM_001114132.1(NBEAL1) c.6619-205T>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 204053313 . G . . NT END=204055014;NT GT ./. 2 204054882 rs71034227 TACACACACACACACAC T 7 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=8;Gene=NBEAL1/NM_001114132.1/1;CC=c.6737-98_6737-83delACACACACACACACAC;VC=Intron;DM=NBEAL1/Beach;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:TACACACACACACACAC,T:5:7:0:5:2,3:51,122:0.00,6.53:0.00,6.53:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:16.0,87.0:0,2:0,0:118,45:30,98:6,7:-,NM_001114132.1(NBEAL1) c.6737-132_6737-117delACACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 204055113 . G . . NT END=204058517;NT GT ./. 2 204055455 rs10445794 C G 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=0.974;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+343C>G;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:93:80:0:0:65,28:2149,902:0.00,78.86:0.00,57.15:0.00,21.71:0.00,1.00:0.00,1.00:0.00,1.00:60,50:11.0,133.0:0,0:0,0:63,46:85,97:32,10:-,NM_001114132.1(NBEAL1) c.6834+343C>G:-,NOT_FOUND:-,NOT_FOUND 2 204055473 rs10445795 C T 101 nt VT=SNV;PN=C;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=7;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+361C>T;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:116:100:0:0:82,34:2501,1157:0.00,101.49:0.00,71.04:0.00,30.45:0.00,1.00:0.00,1.00:0.00,1.00:60,50:15.3,127.6:0,0:0,0:61,54:74,91:41,12:-,NM_001114132.1(NBEAL1) c.6834+361C>T:-,NOT_FOUND:-,NOT_FOUND 2 204055484 rs10445796 A G 123 nt VT=SNV;PN=C;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=NA;NP=12;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+372A>G;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:129:108:0:0:85,1,43:2726,30,1381:0.00,1.10,123.14:0.00,1.22,79.82:0.00,-0.12,43.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,3,50:12.2,63.0,123.9:0,0,0:0,0,0:58,3,58:79,143,93:39,0,20:-,NM_001114132.1(NBEAL1) c.6834+372A>G:-,NOT_FOUND:-,NOT_FOUND 2 204055528 . A T 188 nt VT=SNV;PN=G;NN=G;SST=Single;DP=170;NP=133;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+416A>T;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:170:130:0:0:107,63:3458,2063:0.00,187.71:0.00,112.55:0.00,75.16:0.00,1.00:0.00,1.00:0.00,1.00:60,50:13.4,88.3:0,0:0,0:55,59:93,88:31,41:-,NM_001114132.1(NBEAL1) c.6834+416A>T:-,NOT_FOUND:-,NOT_FOUND 2 204055698 rs199724453 A G 201 nt VT=SNV;PN=G;NN=A;SST=Single;DP=163;DB;DBA=NA;PAF=NA;NP=569;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+586A>G;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:163:107:0:0:96,67:3068,2167:0.00,200.68:0.00,75.81:0.00,124.87:0.00,1.00:0.00,1.00:0.00,1.00:50,60:11.5,41.2:0,0:0,0:77,77:74,72:35,25:-,NM_001114132.1(NBEAL1) c.6834+586A>G:-,NOT_FOUND:-,NOT_FOUND 2 204055775 rs61521923 CAGAA C 77 nt VT=DEL;SST=Single;DP=140;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=50;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+669_6834+672delGAAA;VC=Intron;DM=NBEAL1/Beach;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAGAA,C:140:73:0:32:108,32:3456,946:0.00,77.22:0.00,11.96:0.00,65.27:0.00,1.00:0.00,1.00:0.00,1.00:50,49:20.3,42.3:0,0:0,0:95,95:54,54:37,32:-,NM_001114132.1(NBEAL1) c.6834+664_6834+667delAGAA:-,NOT_FOUND:-,NOT_FOUND 2 204055840 rs62182254 T C 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=NA;NP=739;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+728T>C;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:46:0:0:22,75:725,2336:60.47,0.00:13.34,0.00:47.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,56:49.3,8.9:0,0:0,0:84,75:66,69:34,34:NM_001114132.1(NBEAL1) c.6834+728T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 204055943 rs4561645 T C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=617;PC=0.915;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+831T>C;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:61:19:0:0:13,1,47:404,10,1437:33.01,-0.18,0.00:6.88,-0.06,0.00:26.13,-0.11,0.00:1.00,0.00,0.00:0.97,0.00,0.00:1.00,0.00,0.00:60,27,60:86.4,110.0,10.4:0,0,0:0,0,0:62,62,92:88,88,58:44,0,30:NM_001114132.1(NBEAL1) c.6834+831T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 204055980 rs4569461 G C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=2731;PC=0.998;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+868G>C;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:45:12:0:0:11,33,1:335,1068,12:28.01,0.00,-0.03:3.76,0.00,-0.06:24.26,0.00,0.04:1.00,0.00,0.00:0.93,0.00,0.00:1.00,0.00,0.00:57,60,60:91.5,17.1,127.0:0,0,0:0,0,0:84,119,47:67,30,104:15,13,0:NM_001114132.1(NBEAL1) c.6834+868G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 204056049 rs72936331 A T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1;PC=0.985;Gene=NBEAL1/NM_001114132.1/1;CC=c.6834+937A>T;VC=Intron;DM=NBEAL1/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:A,T:13:1:0:0:8,5:262,157:0.00,14.32:0.00,3.06:0.00,11.26:0.00,0.91:0.00,0.59:0.00,0.99:60,57:93.2,92.2:1,0:0,0:120,140:31,7:11,6:-,NM_001114132.1(NBEAL1) c.6834+937A>T:-,NOT_FOUND:-,NOT_FOUND 2 204058635 . G . . NT END=204062024;NT GT ./. 2 204062061 rs4675323 A G 77 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NBEAL1/NM_001114132.1/1;CC=c.6988A>G;ProtCh=p.I2330V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:G:22:20:0:0:22:667:77.00:48.02:28.98:1.00:1.00:1.00:60:33.6:0:0:57:78:24:NM_001114132.1(NBEAL1) c.6988A>G (p.Ile2330Val),NM_001114132.1(NBEAL1) c.6988A>G (p.Ile2330Val):0.86,0.86:0.893814,0.893814 2 204062115 . G . . NT END=204064060;NT GT ./. 2 204064171 . G . . NT END=204066265;NT GT ./. 2 204066439 . G . . NT END=204067409;NT GT ./. 2 204067268 rs2060388 A G 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.7325-142A>G;VC=Intron;DM=NBEAL1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:319:36.62:36.62:0.00:1.00:1.00:0.00:60:41.3:0:0:59:91:32:NM_001114132.1(NBEAL1) c.7325-142A>G,NM_001114132.1(NBEAL1) c.7325-142A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 204067505 . G . . NT END=204073359;NT GT ./. 2 204073477 . G . . NT END=204073883;NT GT ./. 2 204074046 . G . . NT END=204075680;NT GT ./. 2 204074436 rs561862190 A ATGTGTGTG 8 idl,nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=3;NP=5;PC=0.004;Gene=NBEAL1/NM_001114132.1/1;CC=c.7698+424_7698+425insGTGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,ATGTGTGTG:11:10:5:0:8,3:237,160:0.00,8.32:0.00,5.55:0.00,2.76:0.00,0.58:0.00,0.89:0.00,0.84:60,60:12.6,27.7:0,2:0,0:98,39:34,104:17,20:-,NM_001114132.1(NBEAL1) c.7698+391_7698+392insTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 204075830 . G . . NT END=204078240;NT GT ./. 2 204076096 rs966229 A G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NBEAL1/NM_001114132.1/1;CC=c.7847+267A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:178:20.19:0.00:20.19:1.00:0.00:1.00:60:38.0:0:0:107:43:24:NM_001114132.1(NBEAL1) c.7847+267A>G,NM_001114132.1(NBEAL1) c.7847+267A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 204078542 . G . . NT END=204081975;NT GT ./. 2 204082718 . A . . NT END=204090845;NT GT ./. 2 204090665 rs13020770 A C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;PC=0.187 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,C:9:9:0:0:3,6:104,196:0.00,19.97:0.00,19.97:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:15.3,34.3:0,0:0,0:91,63:59,87:16,40:-,chr2 g.204090664A>C (intergenic):-,0.01:-,NOT_FOUND 2 204090874 . A . . NT END=204103785;NT GT ./. 2 204090887 rs2351773 C G 160 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:27:0:0:42:1405:160.49:67.76:92.73:1.00:1.00:1.00:60:36.5:0:0:96:52:25:chr2 g.204090886C>G (intergenic),chr2 g.204090886C>G (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 204103858 . G . . NT END=204110568;NT GT ./. 2 204110619 . G . . NT END=204111477;NT GT ./. 2 204111394 rs13015873 T C 153 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=CYP20A1/NM_177538.2/1;CC=c.123-84T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:38:0:0:40:1340:153.04:129.48:23.56:1.00:1.00:1.00:70:65.5:40:0:64:86:41:NM_177538.2(CYP20A1) c.123-84T>C,NM_177538.2(CYP20A1) c.123-84T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 204111398 rs10601301 GTTAA G 144 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3344;PC=0.987;Gene=CYP20A1/NM_177538.2/1;CC=c.123-77_123-74delAATT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:G:40:38:0:40:40:1252:144.26:122.55:21.71:1.00:1.00:1.00:70:65.9:0:0:66:83:40:NM_177538.2(CYP20A1) c.123-79_123-76delTTAA,NM_177538.2(CYP20A1) c.123-79_123-76delTTAA:0.91,0.91:NOT_FOUND,NOT_FOUND 2 204111443 rs6435176 A G 170 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.022;Gene=CYP20A1/NM_177538.2/1;CC=c.123-35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:39:0:0:46:1482:170.04:120.77:49.26:1.00:1.00:1.00:60:66.7:0:0:61:87:28:NM_177538.2(CYP20A1) c.123-35A>G,NM_177538.2(CYP20A1) c.123-35A>G:0.87,0.87:0.890435,0.890435 2 204111645 . G . . NT END=204116689;NT GT ./. 2 204111705 rs6751894 T C 124 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3466;Gene=CYP20A1/NM_177538.2/1;CC=c.289+61T>C;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A,C:39:8:0:0:1,38:13,1072:0.39,124.44:0.00,18.33:0.39,106.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:146.0,34.0:0,0:0,0:9,109:141,40:0,29:NM_177538.2(CYP20A1) c.289+61T>C,NM_177538.2(CYP20A1) c.289+61T>C:1,1:NOT_FOUND,NOT_FOUND 2 204111997 rs6737353 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.316;Gene=CYP20A1/NM_177538.2/1;CC=c.289+353G>A;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:133:15.21:3.78:11.43:1.00:1.00:1.00:60:36.2:0:0:57:72:21:NM_177538.2(CYP20A1) c.289+353G>A,NM_177538.2(CYP20A1) c.289+353G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 2 204116541 rs34132653 A T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;Gene=CYP20A1/NM_177538.2/1;CC=c.290-149A>T;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:192:22.06:22.06:0.00:1.00:1.00:0.00:60:36.5:0:0:32:119:30:NM_177538.2(CYP20A1) c.290-149A>T,NM_177538.2(CYP20A1) c.290-149A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 204116690 rs2043449 C T 156 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.110;Gene=CYP20A1/NM_177538.2/1;CC=c.290C>T;ProtCh=p.S97L;VC=Missense;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:36:0:0:43:1357:156.12:95.88:60.24:1.00:1.00:1.00:60:39.0:0:0:50:97:25:NM_177538.2(CYP20A1) c.290C>T (p.Ser97Leu),NM_177538.2(CYP20A1) c.290C>T (p.Ser97Leu):0.88,0.88:0.888129,0.888129 2 204116833 . G . . NT END=204131236;NT GT ./. 2 204116887 rs2351771 T G 91 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.006;Gene=CYP20A1/NM_177538.2/1;CC=c.432+55T>G;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:C,G:25:10:0:0:1,24:10,803:0.31,91.32:0.00,24.73:0.31,66.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:139.0,33.8:0,0:0,0:64,124:78,26:0,22:NM_177538.2(CYP20A1) c.432+55T>G,NM_177538.2(CYP20A1) c.432+55T>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 204117097 rs71034232 GTA G 12 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=111;Gene=CYP20A1/NM_177538.2/1;CC=c.432+281_432+282delAT;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GTA,G:6:0:0:6:1,5:34,141:0.00,12.05:0.00,0.00:0.00,12.05:0.00,0.98:0.00,0.00:0.00,0.98:60,60:30.0,41.8:0,1:0,0:132,119:19,32:0,10:-,NM_177538.2(CYP20A1) c.432+266_432+267delTA:-,NOT_FOUND:-,NOT_FOUND 2 204131405 . G . . NT END=204137368;NT GT ./. 2 204131500 rs71034233 T TA 32 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=104;Gene=CYP20A1/NM_177538.2/1;CC=c.600+99_600+100insA;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:26:4:11:0:15,11:484,344:0.00,31.95:0.00,1.39:0.00,30.56:0.00,1.00:0.00,0.89:0.00,1.00:60,60:2.7,3.9:0,0:0,0:106,93:45,57:27,35:-,NM_177538.2(CYP20A1) c.600+96_600+97insA:-,0.01:-,NOT_FOUND 2 204137273 rs397977414 C CA 13 idl,rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.008;Gene=CYP20A1/NM_177538.2/1;CC=c.601-99_601-98insA;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;DM=CYP20A1/p450;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CA,D:8:12:7:3:2,4,2:69,234,101:0.00,13.05,5.94:0.00,13.05,5.94:0.00,0.00,0.00:0.00,0.80,0.00:0.00,0.80,0.00:0.00,0.00,0.00:60,60,60:46.5,63.0,22.0:0,3,1:0,0,0:58,38,97:89,110,54:2,25,5:-,NM_177538.2(CYP20A1) c.601-120_601-119insA:-,NOT_FOUND:-,NOT_FOUND 2 204137472 . G . . NT END=204143295;NT GT ./. 2 204143126 rs2043444 T C 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.086;Gene=CYP20A1/NM_177538.2/1;CC=c.680-170T>C;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:239:27.24:27.24:0.00:1.00:1.00:0.00:60:44.4:0:0:91:60:15:NM_177538.2(CYP20A1) c.680-170T>C,NM_177538.2(CYP20A1) c.680-170T>C:0.4,0.4:NOT_FOUND,NOT_FOUND 2 204143412 . G . . NT END=204144781;NT GT ./. 2 204144837 . G . . NT END=204150334;NT GT ./. 2 204150456 . G . . NT END=204154487;NT GT ./. 2 204150705 rs12468888 C A 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=CYP20A1/NM_177538.2/1;CC=c.971+250C>A;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:1:0:0:7:191:22.37:3.48:18.90:1.00:1.00:1.00:60:44.0:0:0:96:54:29:NM_177538.2(CYP20A1) c.971+250C>A,NM_177538.2(CYP20A1) c.971+250C>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 204154325 rs7593677 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.071;Gene=CYP20A1/NM_177538.2/1;CC=c.972-163G>A;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:252:29.01:29.01:0.00:1.00:1.00:0.00:60:52.5:0:0:17:133:6:NM_177538.2(CYP20A1) c.972-163G>A,NM_177538.2(CYP20A1) c.972-163G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 204154600 . G . . NT END=204156984;NT GT ./. 2 204154677 rs114407963 A T 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.087;Gene=CYP20A1/NM_177538.2/1;CC=c.1083+78A>T;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,T:17:1:0:0:4,13:120,389:0.00,41.05:0.00,3.36:0.00,37.69:0.00,1.00:0.00,0.84:0.00,1.00:60,60:16.2,65.7:0,0:0,0:122,131:27,18:20,16:-,NM_177538.2(CYP20A1) c.1083+78A>T:-,0.07:-,NOT_FOUND 2 204154686 rs10170454 A G 45 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CYP20A1/NM_177538.2/1;CC=c.1083+87A>G;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:1:0:0:13:384:44.54:1.32:43.22:1.00:1.00:1.00:60:63.6:0:0:70:80:44:NM_177538.2(CYP20A1) c.1083+87A>G,NM_177538.2(CYP20A1) c.1083+87A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 204156757 rs6435179 G A 14 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=CYP20A1/NM_177538.2/1;CC=c.1084-228G>A;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:36.8:0:0:9:142:1:NM_177538.2(CYP20A1) c.1084-228G>A,NM_177538.2(CYP20A1) c.1084-228G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 204156968 rs560963656 AT A 9 idl,rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=109;PC=0.002;Gene=CYP20A1/NM_177538.2/1;CC=c.1084-6delT;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:AT,T,I,A:49:41:4:4:40,1,4,4:1236,12,124,129:0.00,-0.08,8.49,8.98:0.00,-0.24,4.93,5.53:0.00,0.16,3.56,3.46:0.00,0.00,0.00,0.56:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.78:60,60,60,60:21.4,22.0,42.2,11.2:0,0,0,0:0,0,0,0:48,5,40,35:96,146,104,100:26,0,34,21:-,NM_177538.2(CYP20A1) c.1084-16delT:-,NOT_FOUND:-,NOT_FOUND 2 204157050 . G . . NT END=204161196;NT GT ./. 2 204157238 rs6727994 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003;Gene=CYP20A1/NM_177538.2/1;CC=c.1148+189A>G;VC=Intron;DM=CYP20A1/p450;DM=CYP20A1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:165:18.88:0.00:18.88:1.00:0.00:1.00:60:48.6:0:0:100:51:18:NM_177538.2(CYP20A1) c.1148+189A>G,NM_177538.2(CYP20A1) c.1148+189A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 204161287 . G . . NT END=204161480;NT GT ./. 2 204161632 . A . . NT END=204193237;NT GT ./. 2 204193355 . G . . NT END=204231599;NT GT ./. 2 204215610 . TGTGTGC T 9 nt VT=DEL;SST=Single;DP=8;NP=4;PC=0.001;Gene=ABI2/NM_001282925.1/1;CC=c.118-15988_118-15983delTGTGCG;VC=Intron;Gene=ABI2/NM_001282926.1/0;CC=c.118-15988_118-15983delTGTGCG;VC=Intron;Gene=ABI2/NM_001282932.1/0;CC=c.-248-15992_-248-15987delTGTGCG;VC=Intron;Gene=ABI2/NM_005759.5/0;CC=c.118-15988_118-15983delTGTGCG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TGTGTGC,T:8:7:0:3:5,3:167,100:0.00,9.13:0.00,6.29:0.00,2.84:0.00,0.67:0.00,0.95:0.00,0.93:70,60:2.4,13.3:5,0:0,0:41,80:110,67:15,4:-,NM_005759.4(ABI2) c.118-15989_118-15984delGTGTGC:-,NOT_FOUND:-,NOT_FOUND 2 204215612 rs141407640 TGTGC T 17 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=109;PC=0.001;Gene=ABI2/NM_001282925.1/1;CC=c.118-15986_118-15983delTGCG;VC=Intron;Gene=ABI2/NM_001282926.1/0;CC=c.118-15986_118-15983delTGCG;VC=Intron;Gene=ABI2/NM_001282932.1/0;CC=c.-248-15990_-248-15987delTGCG;VC=Intron;Gene=ABI2/NM_005759.5/0;CC=c.118-15986_118-15983delTGCG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:8:5:151:17.47:9.64:7.83:1.00:1.00:1.00:70:2.4:0:0:43:108:15:NM_005759.4(ABI2) c.118-15987_118-15984delGTGC,NM_005759.4(ABI2) c.118-15987_118-15984delGTGC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 204231854 . G . . NT END=204240779;NT GT ./. 2 204232046 rs35598384 C CT 14 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2;Gene=ABI2/NM_001282925.1/1;CC=c.285+292dupT;VC=Intron;Gene=ABI2/NM_001282926.1/0;CC=c.285+292dupT;VC=Intron;Gene=ABI2/NM_001282932.1/0;CC=c.-85+292dupT;VC=Intron;Gene=ABI2/NM_005759.5/0;CC=c.285+292dupT;VC=Intron;Gene=ABI2/NM_001282927.1/0;CC=c.74+292dupT;VC=Intron;DM=ABI2/Abi_HHR;DM=ABI2/Abi_HHR;DM=ABI2/Abi_HHR;DM=ABI2/Abi_HHR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:C,CT:7:0:6:0:2,5:46,162:0.00,13.72:0.00,0.00:0.00,13.72:0.00,0.97:0.00,0.00:0.00,0.97:60,60:26.0,85.4:0,1:0,0:126,110:22,40:8,7:-,NM_005759.4(ABI2) c.285+279_285+280insT:-,NOT_FOUND:-,NOT_FOUND 2 204240856 . G . . NT END=204244930;NT GT ./. 2 204245112 . G . . NT END=204246911;NT GT ./. 2 204246930 . G . . NT END=204251257;NT GT ./. 2 204251116 rs4234075 G A 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ABI2/NM_001282925.1/1;CC=c.480+4187G>A;VC=Intron;Gene=ABI2/NM_001282926.1/0;CC=c.463-4653G>A;VC=Intron;Gene=ABI2/NM_001282932.1/0;CC=c.295-4653G>A;VC=Intron;Gene=ABI2/NM_005759.5/0;CC=c.463-4653G>A;VC=Intron;Gene=ABI2/NM_001282927.1/0;CC=c.328-4653G>A;VC=Intron;DM=ABI2/Abi_HHR;DM=ABI2/Abi_HHR;DM=ABI2/Abi_HHR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:196:22.46:22.46:0.00:1.00:1.00:0.00:60:32.7:0:0:82:60:17:NM_005759.4(ABI2) c.463-4653G>A,NM_005759.4(ABI2) c.463-4653G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 2 204251262 . G . . NT END=204255768;NT GT ./. 2 204255867 . G . . NT END=204259422;NT GT ./. 2 204259570 . G . . NT END=204260378;NT GT ./. 2 204260171 rs59156204 T TATAGACACACAC 12 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;Gene=ABI2/NM_001282925.1/1;CC=c.726-207_726-206insTAGACACACACA;VC=Intron;Gene=ABI2/NM_001282926.1/0;CC=c.708-207_708-206insTAGACACACACA;VC=Intron;Gene=ABI2/NM_001282932.1/0;CC=c.540-207_540-206insTAGACACACACA;VC=Intron;Gene=ABI2/NM_005759.5/0;CC=c.708-207_708-206insTAGACACACACA;VC=Intron;Gene=ABI2/NM_001282927.1/0;CC=c.573-207_573-206insTAGACACACACA;VC=Intron;DM=ABI2/SH3_9;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:T,TATAGACACACAC:10:11:5:0:6,4:186,162:0.00,11.87:0.00,12.07:0.00,-0.20:0.00,0.98:0.00,0.98:0.00,0.66:60,60:50.2,46.0:0,1:0,0:112,27:34,85:9,5:-,NM_005759.4(ABI2) c.708-208_708-207insATAGACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 204260173 rs2252464 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=ABI2/NM_001282925.1/1;CC=c.726-206C>T;VC=Intron;Gene=ABI2/NM_001282926.1/0;CC=c.708-206C>T;VC=Intron;Gene=ABI2/NM_001282932.1/0;CC=c.540-206C>T;VC=Intron;Gene=ABI2/NM_005759.5/0;CC=c.708-206C>T;VC=Intron;Gene=ABI2/NM_001282927.1/0;CC=c.573-206C>T;VC=Intron;DM=ABI2/SH3_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:13:12:0:0:8,5:252,165:0.00,15.13:0.00,13.66:0.00,1.47:0.00,0.91:0.00,0.99:0.00,0.68:60,60:52.4,63.2:0,0:0,0:61,110:68,31:24,9:-,NM_005759.4(ABI2) c.708-206C>T:-,0.24:-,NOT_FOUND 2 204260504 . G . . NT END=204261507;NT GT ./. 2 204261691 . G . . NT END=204267298;NT GT ./. 2 204261723 rs3731652 G C 246 nt VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=ABI2/NM_001282925.1/1;CC=c.1033+33G>C;VC=Intron;Gene=ABI2/NM_001282926.1/0;CC=c.1015+33G>C;VC=Intron;Gene=ABI2/NM_001282932.1/0;CC=c.664+1220G>C;VC=Intron;Gene=ABI2/NM_005759.5/0;CC=c.832+1220G>C;VC=Intron;Gene=ABI2/NM_001282927.1/0;CC=c.697+1220G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:C,G:69:34:0:0:68,1:2153,10:245.90,0.00:74.15,0.00:171.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,103.0:0,0:0,0:96,77:47,72:40,0:NM_005759.4(ABI2) c.832+1220G>C,NM_005759.4(ABI2) c.832+1220G>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 204267458 . G . . NT END=204276007;NT GT ./. 2 204276095 . G . . NT END=204281630;NT GT ./. 2 204281805 . G . . NT END=204291899;NT GT ./. 2 204292076 . A . . NT END=204304159;NT GT ./. 2 204306137 . C . . NT END=204306191;NT GT ./. 2 204306356 rs55881728 A G 125 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;Gene=RAPH1/NM_213589.2/0;CC=c.1777-220T>C;VC=Intron;Gene=RAPH1/NM_203365.3/1;CC=c.*445T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:85:51:0:0:41,1,43:1365,5,1303:0.00,-0.19,125.43:0.00,-0.11,62.74:0.00,-0.08,62.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.9,63.0,40.3:0,0,0:0,0,0:63,108,73:88,43,78:40,0,37:-,NM_213589.1(RAPH1) c.1777-220T>C:-,0.41:-,NOT_FOUND 2 204306804 . C . . NT END=204309590;NT GT ./. 2 204309734 . C . . NT END=204312681;NT GT ./. 2 204312803 . C . . NT END=204313460;NT GT ./. 2 204313560 . C . . NT END=204319152;NT GT ./. 2 204319264 . C . . NT END=204320159;NT GT ./. 2 204320304 . C . . NT END=204322252;NT GT ./. 2 204322019 rs2256623 C T 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.130;Gene=RAPH1/NM_213589.2/0;CC=c.1158+234G>A;VC=Intron;Gene=RAPH1/NM_203365.3/1;CC=c.1314+234G>A;VC=Intron;DM=RAPH1/PH;DM=RAPH1/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:326:37.37:37.37:0.00:1.00:1.00:0.00:60:58.6:0:0:43:107:25:NM_213589.1(RAPH1) c.1158+234G>A,NM_213589.1(RAPH1) c.1158+234G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 204322319 . C . . NT END=204324629;NT GT ./. 2 204324752 . C . . NT END=204325971;NT GT ./. 2 204326132 . C . . NT END=204326570;NT GT ./. 2 204326649 . C . . NT END=204334961;NT GT ./. 2 204335037 . C . . NT END=204341798;NT GT ./. 2 204341880 . C . . NT END=204354306;NT GT ./. 2 204354813 . C . . NT END=204355936;NT GT ./. 2 204355822 rs2469962 G A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.006;Gene=RAPH1/NM_213589.2/0;CC=c.226+115C>T;VC=Intron;Gene=RAPH1/NM_203365.3/1;CC=c.226+115C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:7:7:0:0:3,4:101,121:9.46,0.00:9.46,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:41.7,16.0:0,0:0,0:25,33:126,117:1,27:NM_213589.1(RAPH1) c.226+115C>T,-:0.57,-:NOT_FOUND,- 2 204356043 . C . . NT END=204359956;NT GT ./. 2 204360077 . C . . NT END=204571246;NT GT ./. 2 204499212 rs71408954 A T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;PC=0.154 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,T,I:9:9:1:0:4,4,1:104,107,29:0.00,10.17,2.22:0.00,10.17,2.22:0.00,0.00,0.00:0.00,0.85,0.00:0.00,0.85,0.00:0.00,0.00,0.00:60,70,40:52.2,57.8,88.0:0,0,0:0,0,0:36,21,91:113,128,60:16,16,0:-,chr2 g.204499211A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 204571472 . G . . NT END=204591355;NT GT ./. 2 204591713 . G . . NT END=204594370;NT GT ./. 2 204594496 . G . . NT END=204599506;NT GT ./. 2 204599636 . C . . NT END=204732665;NT GT ./. 2 204604235 rs11900440 C A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:1:4:109:12.79:7.20:5.58:1.00:1.00:1.00:60:62.5:0:0:16:114:11:chr2 g.204604234C>A (intergenic),chr2 g.204604234C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 204629096 rs6721210 G A 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.633 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:17:0:0:13,16:418,534:39.34,0.00:13.40,0.00:25.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.5,16.9:0,0:0,0:104,86:40,56:30,32:chr2 g.204629095G>A (intergenic),-:0.67,-:NOT_FOUND,- 2 204629421 rs1974996 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:4:3:0:0:2,2:66,72:0.00,6.95:0.00,3.48:0.00,3.48:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,36.0:0,0:0,0:69,93:82,54:41,33:-,chr2 g.204629420C>T (intergenic):-,0.64:-,NOT_FOUND 2 204629967 rs71007550 GCTCCCAGATTTTGCTCTCCAGCTT G 73 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1727;PC=0.740;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:GCTCCCAGATTTTGCTCTCCAGCTT,G:25:23:0:21:4,21:84,678:0.00,73.11:0.00,56.61:0.00,16.50:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.5,4.5:0,0:0,0:119,57:26,94:3,18:-,chr2 g.204629968_204629991delCTCCCAGATTTTGCTCTCCAGCTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 204630564 rs72225353 AGTGTGT A 10 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=183;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:AGTGTGT,A:5:5:0:5:2,3:66,158:0.00,9.84:0.00,5.49:0.00,4.35:0.00,0.69:0.00,0.93:0.00,0.95:60,60:29.0,29.3:0,2:0,0:95,38:17,57:50,22:-,chr2 g.204630565_204630570delGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 204637705 rs200094052 TTCATCATCATCA T 25 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=64;PC=0.417;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTCATCATCATCA,T:21:20:0:9:12,9:386,268:0.00,24.83:0.00,23.49:0.00,1.34:0.00,1.00:0.00,1.00:0.00,0.83:60,65:5.0,5.1:0,0:0,0:55,50:95,101:27,12:-,chr2 g.204637706_204637717delTCATCATCATCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 204732775 . G . . NT END=204735308;NT GT ./. 2 204732850 rs231776 A G 113 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=3377;PC=1.000;Gene=CTLA4/NM_001037631.2/0;CC=c.109+76A>G;VC=Intron;Gene=CTLA4/NM_005214.4/1;CC=c.109+76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:1:0:0:31:981:112.85:1.94:110.91:1.00:1.00:1.00:60:34.5:0:0:110:41:16:NM_005214.4(CTLA4) c.109+76A>G,NM_005214.4(CTLA4) c.109+76A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 204735657 . G . . NT END=204736100;NT GT ./. 2 204736211 . G . . NT END=204737430;NT GT ./. 2 204737536 . G . . NT END=204801537;NT GT ./. 2 204759639 rs55751708 A AACAC 16 idl,rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=34;PC=0.008;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,AACAC,D:10:13:8:1:4,5,1:127,266,34:0.00,16.47,2.63:0.00,9.84,2.63:0.00,6.62,0.00:0.00,0.91,0.00:0.00,0.91,0.00:0.00,0.86,0.00:60,60,60:2.0,2.4,0.0:0,3,0:0,0,0:127,60,45:23,90,106:12,13,0:-,chr2 g.204759639_204759640insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 204801596 . G . . NT END=204820358;NT GT ./. 2 204801768 rs10932029 T C 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ICOS/NM_012092.3/1;CC=c.58+173T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,T:8:0:0:0:4,4:126,105:12.12,0.00:0.00,0.00:12.12,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:36.0,31.8:0,0:0,0:104,101:47,49:16,23:NM_012092.3(ICOS) c.58+173T>C,-:0.1,-:NOT_FOUND,- 2 204820695 . G . . NT END=204821381;NT GT ./. 2 204821489 . G . . NT END=204822521;NT GT ./. 2 204821494 rs4264550 C T 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ICOS/NM_012092.3/1;CC=c.501+6C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:18:0:0:14,13:427,398:0.00,37.88:0.00,12.60:0.00,25.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,41.2:0,0:0,0:101,105:49,26:15,22:-,NM_012092.3(ICOS) c.501+6C>T:-,0.12:-,0.136552 2 204821605 rs11571313 C T 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ICOS/NM_012092.3/1;CC=c.501+117C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:12:0:0:0:4,8:124,264:0.00,26.90:0.00,0.00:0.00,26.90:0.00,1.00:0.00,0.00:0.00,1.00:60,60:58.0,34.2:0,0:0,0:109,45:42,105:30,31:-,NM_012092.3(ICOS) c.501+117C>T:-,0.07:-,NOT_FOUND 2 204821614 rs4270326 C G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ICOS/NM_012092.3/1;CC=c.501+126C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G:11:0:0:0:8,3:267,103:0.00,8.93:0.00,0.00:0.00,8.93:0.00,0.60:0.00,0.00:0.00,0.60:60,60:34.2,46.0:0,0:0,0:54,90:96,61:31,21:-,NM_012092.3(ICOS) c.501+126C>G:-,0.14:-,NOT_FOUND 2 204822294 rs56236018 C T 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ICOS/NM_012092.3/1;CC=c.502-228C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,95:0.00,9.95:0.00,9.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:31.0,31.7:0,0:0,0:32,33:118,118:0,5:-,NM_012092.3(ICOS) c.502-228C>T:-,0.12:-,NOT_FOUND 2 204822607 . G . . NT END=204824308;NT GT ./. 2 204824178 rs146016344 AGT A,AGTGTGTGTGT 26 sb;idl,nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=415;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:37:AGT,AGTGTGTGTGT,A:13:13:3:8:2,3,8:67,101,244:0.00,9.40,25.70:0.00,6.20,23.91:0.00,3.19,1.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.95:60,60,60:22.0,0.0,58.2:0,0,0:0,0,0:62,38,32:84,109,117:57,3,21:NM_012092.3(ICOS) c.587-130_587-129delGT,NM_012092.3(ICOS) c.587-130GT[5]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 204824200 rs78281070 T C 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.008;Gene=ICOS/NM_012092.3/1;CC=c.587-109T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,T,I:16:16:1:0:10,5,1:323,168,32:32.89,0.00,2.33:29.81,0.00,2.37:3.08,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:76.5,14.0,44.0:0,0,0:0,0,0:34,68,27:109,79,123:18,10,0:NM_012092.3(ICOS) c.587-109T>C,-:0.12,-:NOT_FOUND,- 2 204824283 rs10172036 T G 110 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ICOS/NM_012092.3/1;CC=c.587-26T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:G:30:24:0:0:30:961:110.20:72.02:38.18:1.00:1.00:1.00:60:76.9:0:0:52:93:27:NM_012092.3(ICOS) c.587-26T>G,NM_012092.3(ICOS) c.587-26T>G:0.54,0.54:0.592957,0.592957 2 204824323 . T . . NT END=205410722;NT GT ./. 2 204824324 rs10183087 A C 101 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.012;Gene=ICOS/NM_012092.3/1;CC=c.*2A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:C:26:20:0:0:26:889:101.28:54.84:46.44:1.00:1.00:1.00:60:67.8:0:0:75:67:23:NM_012092.3(ICOS) c.*2A>C,NM_012092.3(ICOS) c.*2A>C:0.26,0.26:0.306781,0.306781 2 205319997 rs71408990 A AGTGTGTGTGT 17 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;NP=4;NP=5;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,AGTGTGTGTGT:6:6:6:0:1,5:13,191:0.00,16.83:0.00,13.50:0.00,3.33:0.00,0.98:0.00,1.00:0.00,0.98:60,60:0.0,18.4:0,1:0,0:142,41:9,109:0,19:-,chr2 g.205319997_205319998insGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 205320113 rs12616166 A G 25 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:215:24.80:1.54:23.26:1.00:1.00:1.00:60:32.7:0:0:123:20:20:chr2 g.205320112A>G (intergenic),chr2 g.205320112A>G (intergenic):0.7,0.7:NOT_FOUND,NOT_FOUND 2 205410843 . G . . NT END=205550903;NT GT ./. 2 205415135 rs562241721 C CTGTG 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=29;NP=4;NP=8;PC=0.005;Gene=PARD3B/NM_001302769.1/1;CC=c.120+4330_120+4331insGTGT;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.120+4330_120+4331insGTGT;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.120+4330_120+4331insGTGT;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.120+4330_120+4331insGTGT;VC=Intron;DM=PARD3B/DUF3534;DM=PARD3B/DUF3534;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,CTGTG:8:3:4:0:4,4:135,128:0.00,12.30:0.00,1.49:0.00,10.81:0.00,0.87:0.00,0.89:0.00,0.87:60,60:7.5,2.5:0,0:0,0:106,67:33,74:8,3:-,NM_152526.5(PARD3B) c.120+4293_120+4294insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 205501237 rs7600675 A G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.121-49667A>G;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.121-49667A>G;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.121-49667A>G;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.121-49667A>G;VC=Intron;DM=PARD3B/DUF3534;DM=PARD3B/DUF3534 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:152:17.57:0.00:17.57:1.00:0.00:1.00:60:66.8:0:0:87:63:43:NM_152526.5(PARD3B) c.121-49667A>G,NM_152526.5(PARD3B) c.121-49667A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 205501256 rs10170405 T A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.121-49648T>A;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.121-49648T>A;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.121-49648T>A;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.121-49648T>A;VC=Intron;DM=PARD3B/DUF3534;DM=PARD3B/DUF3534 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:109:12.77:0.00:12.77:1.00:0.00:1.00:60:75.2:0:0:84:65:34:NM_152526.5(PARD3B) c.121-49648T>A,NM_152526.5(PARD3B) c.121-49648T>A:0.69,0.69:NOT_FOUND,NOT_FOUND 2 205551006 . G . . NT END=205829874;NT GT ./. 2 205629438 rs60298501 C CGTGTGTGTGTGT 19 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=15;NP=2;NP=50;Gene=PARD3B/NM_001302769.1/1;CC=c.222+78461_222+78462insGTGTGTGTGTGT;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.222+78461_222+78462insGTGTGTGTGTGT;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.222+78461_222+78462insGTGTGTGTGTGT;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.222+78461_222+78462insGTGTGTGTGTGT;VC=Intron;DM=PARD3B/DUF3534;DM=PARD3B/DUF3534;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,CGTGTGTGTGTGT:9:9:7:0:3,6:107,225:0.00,19.44:0.00,7.84:0.00,11.59:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,34.3:0,1:0,0:98,50:29,92:14,10:-,NM_152526.5(PARD3B) c.222+78433_222+78434insGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 205830047 . G . . NT END=205912303;NT GT ./. 2 205912210 rs7563474 C A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PARD3B/NM_001302769.1/1;CC=c.395-94C>A;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.395-94C>A;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.395-94C>A;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.395-94C>A;VC=Intron;DM=PARD3B/DUF3534;DM=PARD3B/DUF3534 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:16:16:0:0:7,9:230,281:21.58,0.00:21.58,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:35.3,9.8:0,0:0,0:40,31:111,120:39,17:NM_152526.5(PARD3B) c.395-94C>A,-:0.63,-:NOT_FOUND,- 2 205912403 rs1510765 T C 46 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PARD3B/NM_001302769.1/1;CC=c.494T>C;ProtCh=p.L165P;VC=Missense;Gene=PARD3B/NM_057177.6/0;CC=c.494T>C;ProtCh=p.L165P;VC=Missense;Gene=PARD3B/NM_152526.5/0;CC=c.494T>C;ProtCh=p.L165P;VC=Missense;Gene=PARD3B/NM_205863.3/0;CC=c.494T>C;ProtCh=p.L165P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:21:0:0:16,24:499,792:45.85,0.00:19.59,0.00:26.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,3.5:0,0:0,0:118,105:31,43:23,20:NM_152526.5(PARD3B) c.494T>C (p.Leu165Pro),-:0.54,-:0.611409,- 2 205912414 . G . . NT END=205968411;NT GT ./. 2 205968494 . G . . NT END=205969149;NT GT ./. 2 205969220 rs2289025 G A 27 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PARD3B/NM_001302769.1/1;CC=c.575G>A;ProtCh=p.R192K;VC=Missense;Gene=PARD3B/NM_057177.6/0;CC=c.575G>A;ProtCh=p.R192K;VC=Missense;Gene=PARD3B/NM_152526.5/0;CC=c.575G>A;ProtCh=p.R192K;VC=Missense;Gene=PARD3B/NM_205863.3/0;CC=c.575G>A;ProtCh=p.R192K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:15:0:0:9,14:290,489:26.61,0.00:10.80,0.00:15.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,10.7:0,0:0,0:96,103:44,47:13,27:NM_152526.5(PARD3B) c.575G>A (p.Arg192Lys),-:0.64,-:0.598752,- 2 205969239 . G . . NT END=205978214;NT GT ./. 2 205978113 rs200294145 CAG C 14 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=19;Gene=PARD3B/NM_001302769.1/1;CC=c.594-101_594-100delAG;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.594-101_594-100delAG;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.594-101_594-100delAG;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.594-101_594-100delAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:CAG,C:14:14:0:5:9,5:275,154:0.00,13.83:0.00,13.92:0.00,-0.10:0.00,0.90:0.00,0.90:0.00,0.57:60,60:44.7,57.2:3,0:0,0:80,65:71,86:41,17:-,NM_152526.5(PARD3B) c.594-101_594-100delAG:-,NOT_FOUND:-,NOT_FOUND 2 205978114 rs1848948 A G 36 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=409;Gene=PARD3B/NM_001302769.1/1;CC=c.594-101A>G;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.594-101A>G;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.594-101A>G;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.594-101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:5:10:310:35.77:32.14:3.63:1.00:1.00:1.00:60:58.8:3:0:81:70:44:NM_152526.5(PARD3B) c.594-101A>G,NM_152526.5(PARD3B) c.594-101A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 205978119 rs201403704 T G 15 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PARD3B/NM_001302769.1/1;CC=c.594-96T>G;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.594-96T>G;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.594-96T>G;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.594-96T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:G,T:17:17:0:1:6,11:172,309:15.26,0.00:15.45,0.00:-0.19,0.00:0.95,0.00:0.95,0.00:0.65,0.00:60,60:57.2,35.3:5,2:0,0:56,86:94,65:21,47:NM_152526.5(PARD3B) c.594-96T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 205978302 . G . . NT END=205983644;NT GT ./. 2 205983771 . G . . NT END=205986314;NT GT ./. 2 205986674 . G . . NT END=205989050;NT GT ./. 2 205986767 rs1434161 C T 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.171;Gene=PARD3B/NM_001302769.1/1;CC=c.1165+94C>T;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.1165+94C>T;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.1165+94C>T;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.1165+94C>T;VC=Intron;DM=PARD3B/PDZ;DM=PARD3B/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:11,10:341,330:0.00,31.47:0.00,0.00:0.00,31.47:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.9,33.0:0,0:0,0:117,75:34,75:16,37:-,NM_152526.5(PARD3B) c.1165+94C>T:-,0.39:-,NOT_FOUND 2 205989191 . G . . NT END=205990332;NT GT ./. 2 205990353 rs2276676 C T 98 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=0.006;Gene=PARD3B/NM_001302769.1/1;CC=c.1326C>T;ProtCh=p.T442=;VC=Silent;Gene=PARD3B/NM_057177.6/0;CC=c.1326C>T;ProtCh=p.T442=;VC=Silent;Gene=PARD3B/NM_152526.5/0;CC=c.1326C>T;ProtCh=p.T442=;VC=Silent;Gene=PARD3B/NM_205863.3/0;CC=c.1326C>T;ProtCh=p.T442=;VC=Silent;DM=PARD3B/PDZ;DM=PARD3B/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:60:52:0:0:30,30:922,1015:0.00,97.72:0.00,67.90:0.00,29.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,44.1:0,0:0,0:63,69:86,81:30,36:-,NM_152526.5(PARD3B) c.1326C>T (p.(=)):-,0.31:-,0.259118 2 205990462 . G . . NT END=206023445;NT GT ./. 2 206014977 . GCA G 12 nt VT=DEL;SST=Single;DP=8;NP=31;PC=0.001;Gene=PARD3B/NM_001302769.1/1;CC=c.1435-8463_1435-8462delAC;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.1435-8463_1435-8462delAC;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.1435-21952_1435-21951delAC;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.1435-8463_1435-8462delAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:GCA,G:8:7:0:4:4,4:139,126:0.00,12.10:0.00,7.34:0.00,4.76:0.00,0.87:0.00,0.99:0.00,0.73:60,60:69.8,11.0:0,0:0,0:43,83:86,45:10,19:-,NM_152526.5(PARD3B) c.1435-21957_1435-21956delCA:-,NOT_FOUND:-,NOT_FOUND 2 206014979 rs10180371 A G 18 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PARD3B/NM_001302769.1/1;CC=c.1435-8467A>G;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.1435-8467A>G;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.1435-21956A>G;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.1435-8467A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:4:5:157:18.06:7.87:10.19:1.00:1.00:1.00:60:69.6:0:0:46:68:20:NM_152526.5(PARD3B) c.1435-21956A>G,NM_152526.5(PARD3B) c.1435-21956A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 206023632 . G . . NT END=206036934;NT GT ./. 2 206036918 rs736320 C T 167 nt VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.1621-17C>T;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.1621-17C>T;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.1435-17C>T;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.1621-17C>T;VC=Intron;DM=PARD3B/PDZ;DM=PARD3B/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:37:0:0:44:1462:167.18:111.07:56.12:1.00:1.00:1.00:60:35.7:0:0:56:90:20:NM_152526.5(PARD3B) c.1435-17C>T,NM_152526.5(PARD3B) c.1435-17C>T:0.71,0.71:0.778009,0.778009 2 206037106 . G . . NT END=206041168;NT GT ./. 2 206041302 . G . . NT END=206050487;NT GT ./. 2 206041366 rs557289707 TA T 12 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=192;Gene=PARD3B/NM_001302769.1/1;CC=c.1924+80delA;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.1924+80delA;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.1738+80delA;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.1924+80delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,TA,I,T:19:9:1:6:1,12,1,5:11,376,33,179:0.16,0.00,2.21,12.48:-0.11,0.00,-0.11,2.79:0.27,0.00,2.32,9.69:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.97:60,60,60,70:88.0,32.7,11.0,25.4:0,0,0,1:0,0,0,0:105,135,52,123:22,10,98,28:0,9,0,6:-,NM_152526.5(PARD3B) c.1738+66delA:-,NOT_FOUND:-,NOT_FOUND 2 206050355 rs62172732 A G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.1925-133A>G;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.1925-133A>G;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.1739-133A>G;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.1925-133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:292,263:0.00,25.01:0.00,25.01:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.9,39.5:0,0:0,0:67,61:84,89:15,23:-,NM_152526.5(PARD3B) c.1739-133A>G:-,0.47:-,NOT_FOUND 2 206050588 . G . . NT END=206057928;NT GT ./. 2 206058045 . G . . NT END=206110501;NT GT ./. 2 206058224 rs62172736 C A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.2140+180C>A;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.2140+180C>A;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.1954+180C>A;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2140+180C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:A,C:5:0:0:0:3,2:70,58:6.93,0.00:0.00,0.00:6.93,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:63.0,30.5:0,0:0,0:52,105:99,36:24,21:NM_152526.5(PARD3B) c.1954+180C>A,-:0.08,-:NOT_FOUND,- 2 206110547 . G . . NT END=206165253;NT GT ./. 2 206165461 . G . . NT END=206166187;NT GT ./. 2 206166426 . G . . NT END=206265736;NT GT ./. 2 206166580 rs11686273 G A 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.2630+155G>A;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.2423+155G>A;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.2444+155G>A;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2630+155G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:6,10:198,282:18.08,0.00:0.00,0.00:18.08,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:39.2,5.3:0,0:0,0:120,103:29,48:20,26:NM_152526.5(PARD3B) c.2444+155G>A,-:0.25,-:NOT_FOUND,- 2 206208918 rs148707708 T TTGTGTG 9 sb;idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;NP=164;NP=3;NP=5;PC=0.975;Gene=PARD3B/NM_001302769.1/1;CC=c.2630+42526_2630+42527insGTGTGT;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.2423+42526_2423+42527insGTGTGT;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.2444+42526_2444+42527insGTGTGT;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2630+42526_2630+42527insGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TTGTGTG:5:5:6:0:2,3:66,185:0.00,8.95:0.00,1.52:0.00,7.42:0.00,0.67:0.00,0.90:0.00,0.85:60,70:0.0,50.3:0,3:0,0:122,26:28,95:4,21:-,NM_152526.5(PARD3B) c.2444+42493_2444+42494insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 206265848 . G . . NT END=206305093;NT GT ./. 2 206305156 rs10185378 C T 130 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=0.022;Gene=PARD3B/NM_001302769.1/1;CC=c.2804C>T;ProtCh=p.T935I;VC=Missense;Gene=PARD3B/NM_057177.6/0;CC=c.2597C>T;ProtCh=p.T866I;VC=Missense;Gene=PARD3B/NM_152526.5/0;CC=c.2618C>T;ProtCh=p.T873I;VC=Missense;Gene=PARD3B/NM_205863.3/0;CC=c.2741+39309C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:60:0:0:34,41:1150,1326:0.00,129.69:0.00,73.24:0.00,56.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,40.5:0,0:0,0:64,80:86,71:40,33:-,NM_152526.5(PARD3B) c.2618C>T (p.Thr873Ile):-,0.07:-,0.103198 2 206305397 . G . . NT END=206364619;NT GT ./. 2 206364487 rs11687914 T C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.558;Gene=PARD3B/NM_001302769.1/1;CC=c.3045-133T>C;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.2838-133T>C;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.2859-133T>C;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2742-133T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:8,10:278,332:26.25,0.00:26.25,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:38.1,2.8:0,0:0,0:56,77:94,72:32,40:NM_152526.5(PARD3B) c.2859-133T>C,-:0.47,-:NOT_FOUND,- 2 206364737 rs10197347 T C 81 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.989;Gene=PARD3B/NM_001302769.1/1;CC=c.3162T>C;ProtCh=p.S1054=;VC=Silent;Gene=PARD3B/NM_057177.6/0;CC=c.2955T>C;ProtCh=p.S985=;VC=Silent;Gene=PARD3B/NM_152526.5/0;CC=c.2976T>C;ProtCh=p.S992=;VC=Silent;Gene=PARD3B/NM_205863.3/0;CC=c.2859T>C;ProtCh=p.S953=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:34:0:0:27,26:845,872:81.44,0.00:35.69,0.00:45.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,21.9:0,0:0,0:99,85:52,46:19,30:NM_152526.5(PARD3B) c.2976T>C (p.(=)),-:0.44,-:0.379174,- 2 206364756 . G . . NT END=206418047;NT GT ./. 2 206364791 rs11683289 C G 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.3180+36C>G;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.2973+36C>G;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.2994+36C>G;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2877+36C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:36:13:0:0:19,17:650,540:0.00,51.25:0.00,11.03:0.00,40.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.5,48.5:0,0:0,0:118,108:32,40:19,15:-,NM_152526.5(PARD3B) c.2994+36C>G:-,0.38:-,0.483731 2 206407078 rs201526789 T TTGTGTG 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;NP=5;NP=63;NP=70;Gene=PARD3B/NM_001302769.1/1;CC=c.3181-10941_3181-10940insGTGTGT;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.2974-10941_2974-10940insGTGTGT;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.2995-10941_2995-10940insGTGTGT;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2878-10941_2878-10940insGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:G,T,TTGTGTG:4:2:2:0:1,1,2:20,32,67:1.75,0.00,6.75:-0.13,0.00,1.44:1.88,0.00,5.31:0.00,0.00,0.51:0.00,0.00,0.79:0.00,0.00,0.89:60,60,60:20.0,0.0,0.0:0,0,0:0,0,0:94,143,42:57,8,108:0,0,16:-,NM_152526.5(PARD3B) c.2995-10970_2995-10969insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 206418032 rs6730102 G A 127 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PARD3B/NM_001302769.1/1;CC=c.3181-16G>A;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.2974-16G>A;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.2995-16G>A;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2878-16G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A:35:31:0:0:35:1105:127.09:90.12:36.97:1.00:1.00:1.00:60:38.4:0:0:61:90:31:NM_152526.5(PARD3B) c.2995-16G>A,NM_152526.5(PARD3B) c.2995-16G>A:0.95,0.95:0.94003,0.94003 2 206418128 . G . . NT END=206480179;NT GT ./. 2 206439783 rs2078011 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PARD3B/NM_001302769.1/1;CC=c.3260+21656A>G;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.3053+21656A>G;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.3074+21656A>G;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2957+21656A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:140:15.91:11.93:3.98:1.00:1.00:1.00:60:78.2:0:0:90:60:8:NM_152526.5(PARD3B) c.3074+21656A>G,NM_152526.5(PARD3B) c.3074+21656A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 206448101 rs60556880 C CTGTGTGTG 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=6;PC=0.001;Gene=PARD3B/NM_001302769.1/1;CC=c.3260+29998_3260+29999insTGTGTGTG;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.3053+29998_3053+29999insTGTGTGTG;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.3074+29998_3074+29999insTGTGTGTG;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2957+29998_2957+29999insTGTGTGTG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,CTGTGTGTG:5:5:4:0:1,4:30,132:0.00,14.02:0.00,10.79:0.00,3.23:0.00,0.96:0.00,0.96:0.00,0.99:60,60:12.0,0.0:0,0:0,0:128,58:23,92:0,21:-,NM_152526.5(PARD3B) c.3074+29974_3074+29975insTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 206448142 rs72142140 TGA T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=449;PC=0.003;Gene=PARD3B/NM_001302769.1/1;CC=c.3260+30032_3260+30033delGA;VC=Intron;Gene=PARD3B/NM_057177.6/0;CC=c.3053+30032_3053+30033delGA;VC=Intron;Gene=PARD3B/NM_152526.5/0;CC=c.3074+30032_3074+30033delGA;VC=Intron;Gene=PARD3B/NM_205863.3/0;CC=c.2957+30032_2957+30033delGA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TGA,T:4:5:0:4:1,3:33,119:0.00,9.87:0.00,6.26:0.00,3.61:0.00,0.78:0.00,0.78:0.00,0.78:60,60:0.0,0.0:0,1:0,0:134,57:9,70:0,14:-,NM_152526.5(PARD3B) c.3074+30016_3074+30017delGA:-,NOT_FOUND:-,NOT_FOUND 2 206480538 . C . . NT END=206548014;NT GT ./. 2 206548088 . G . . NT END=206562267;NT GT ./. 2 206548279 rs75433135 AGTGTGTGT A 19 idl,nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=42;PC=0.261;Gene=NRP2/NM_201264.1/0;CC=c.73+216_73+223delTGTGTGTG;VC=Intron;Gene=NRP2/NM_018534.3/0;CC=c.73+216_73+223delTGTGTGTG;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.73+216_73+223delTGTGTGTG;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.73+216_73+223delTGTGTGTG;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.73+216_73+223delTGTGTGTG;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.73+216_73+223delTGTGTGTG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:AGTGTGTGT,A:8:3:0:11:2,6:67,335:0.00,19.41:0.00,3.51:0.00,15.90:0.00,0.97:0.00,0.86:0.00,0.97:60,60:0.0,31.5:0,5:0,0:105,79:23,72:37,18:-,NM_201266.1(NRP2) c.73+193_73+200delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 206562036 rs66514750 CTG C 10 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=262;PC=0.026;Gene=NRP2/NM_201264.1/0;CC=c.74-200_74-199delGT;VC=Intron;Gene=NRP2/NM_018534.3/0;CC=c.74-200_74-199delGT;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.74-200_74-199delGT;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.74-200_74-199delGT;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.74-200_74-199delGT;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.74-200_74-199delGT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:CTG,C:8:12:0:8:4,4:122,236:0.00,10.18:0.00,10.27:0.00,-0.09:0.00,0.80:0.00,0.80:0.00,0.56:60,60:9.0,10.0:0,4:0,0:109,25:29,125:13,19:-,NM_201266.1(NRP2) c.74-231_74-230delTG:-,NOT_FOUND:-,NOT_FOUND 2 206562250 rs849558 C T 248 nt VT=SNV;PN=T;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=0.009;Gene=NRP2/NM_201264.1/0;CC=c.74-18C>T;VC=Intron;Gene=NRP2/NM_018534.3/0;CC=c.74-18C>T;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.74-18C>T;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.74-18C>T;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.74-18C>T;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.74-18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:71:65:0:0:71:2143:247.91:194.14:53.78:1.00:1.00:1.00:60:38.2:0:0:46:102:28:NM_201266.1(NRP2) c.74-18C>T,NM_201266.1(NRP2) c.74-18C>T:0.91,0.91:0.919806,0.919806 2 206562446 . G . . NT END=206580916;NT GT ./. 2 206580714 rs849542 T G 62 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=NRP2/NM_201264.1/0;CC=c.252-203T>G;VC=Intron;Gene=NRP2/NM_018534.3/0;CC=c.252-203T>G;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.252-203T>G;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.252-203T>G;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.252-203T>G;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.252-203T>G;VC=Intron;DM=NRP2/CUB;DM=NRP2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:539:61.53:61.53:0.00:1.00:1.00:0.00:60:47.6:0:0:46:104:25:NM_201266.1(NRP2) c.252-203T>G,NM_201266.1(NRP2) c.252-203T>G:0.61,0.61:NOT_FOUND,NOT_FOUND 2 206581033 rs849541 G A 339 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=1.000;Gene=NRP2/NM_201264.1/0;CC=c.368G>A;ProtCh=p.R123K;VC=Missense;Gene=NRP2/NM_018534.3/0;CC=c.368G>A;ProtCh=p.R123K;VC=Missense;Gene=NRP2/NM_201267.1/0;CC=c.368G>A;ProtCh=p.R123K;VC=Missense;Gene=NRP2/NM_003872.2/0;CC=c.368G>A;ProtCh=p.R123K;VC=Missense;Gene=NRP2/NM_201266.1/1;CC=c.368G>A;ProtCh=p.R123K;VC=Missense;Gene=NRP2/NM_201279.1/0;CC=c.368G>A;ProtCh=p.R123K;VC=Missense;DM=NRP2/CUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:91:51:0:0:90,1:2969,5:339.30,0.03:124.44,0.00:214.86,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,14.0:0,0:0,0:76,82:74,69:38,0:NM_201266.1(NRP2) c.=,NM_201266.1(NRP2) c.=:0.97,0.97:0.963709,0.963709 2 206581099 . G . . NT END=206587201;NT GT ./. 2 206587433 . G . . NT END=206588508;NT GT ./. 2 206588665 . G . . NT END=206590636;NT GT ./. 2 206588877 rs397811486 AAT A 23 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=115;Gene=NRP2/NM_201264.1/0;CC=c.820+222_820+223delAT;VC=Intron;Gene=NRP2/NM_018534.3/0;CC=c.820+222_820+223delAT;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.820+222_820+223delAT;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.820+222_820+223delAT;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.820+222_820+223delAT;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.820+222_820+223delAT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:AAT,A:8:0:0:7:1,7:10,211:0.00,23.23:0.00,0.00:0.00,23.23:0.00,1.00:0.00,0.00:0.00,1.00:60,60:55.0,1.6:0,0:0,0:127,79:1,72:0,19:NM_201266.1(NRP2) c.820+214_820+215delAT,NM_201266.1(NRP2) c.820+214_820+215delAT:0.43,0.43:NOT_FOUND,NOT_FOUND 2 206590807 . G . . NT END=206592614;NT GT ./. 2 206592525 rs849527 A G 160 nt VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=NRP2/NM_201264.1/0;CC=c.991-90A>G;VC=Intron;Gene=NRP2/NM_018534.3/0;CC=c.991-90A>G;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.991-90A>G;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.991-90A>G;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.991-90A>G;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.991-90A>G;VC=Intron;DM=NRP2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:45:44:0:0:45:1390:160.44:132.52:27.92:1.00:1.00:1.00:60:35.7:0:0:40:111:28:NM_201266.1(NRP2) c.991-90A>G,NM_201266.1(NRP2) c.991-90A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 206592695 rs849526 T C 418 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=0.040;Gene=NRP2/NM_201264.1/0;CC=c.1071T>C;ProtCh=p.Y357=;VC=Silent;Gene=NRP2/NM_018534.3/0;CC=c.1071T>C;ProtCh=p.Y357=;VC=Silent;Gene=NRP2/NM_201267.1/0;CC=c.1071T>C;ProtCh=p.Y357=;VC=Silent;Gene=NRP2/NM_003872.2/0;CC=c.1071T>C;ProtCh=p.Y357=;VC=Silent;Gene=NRP2/NM_201266.1/1;CC=c.1071T>C;ProtCh=p.Y357=;VC=Silent;Gene=NRP2/NM_201279.1/0;CC=c.1071T>C;ProtCh=p.Y357=;VC=Silent;DM=NRP2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:117:80:0:0:116,1:3633,11:417.86,0.12:217.97,0.00:199.89,0.12:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,104.0:0,0:0,0:67,89:80,52:38,0:NM_201266.1(NRP2) c.1071T>C (p.(=)),NM_201266.1(NRP2) c.1071T>C (p.(=)):0.52,0.52:0.411195,0.411195 2 206592771 . G . . NT END=206605242;NT GT ./. 2 206605388 . G . . NT END=206607926;NT GT ./. 2 206607700 rs57269940 C T 47 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=NRP2/NM_201264.1/0;CC=c.1292-227C>T;VC=Intron;Gene=NRP2/NM_018534.3/0;CC=c.1292-227C>T;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.1292-227C>T;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.1292-227C>T;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.1292-227C>T;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.1292-227C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:7,15:211,461:0.00,47.31:0.00,47.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:14.0,40.0:0,0:0,0:41,23:110,128:40,10:-,NM_201266.1(NRP2) c.1292-227C>T:-,0.19:-,NOT_FOUND 2 206608039 rs849568 T C 529 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=139;DB;DBA=NA;PAF=NA;PC=0.999;Gene=NRP2/NM_201264.1/0;CC=c.1404T>C;ProtCh=p.V468=;VC=Silent;Gene=NRP2/NM_018534.3/0;CC=c.1404T>C;ProtCh=p.V468=;VC=Silent;Gene=NRP2/NM_201267.1/0;CC=c.1404T>C;ProtCh=p.V468=;VC=Silent;Gene=NRP2/NM_003872.2/0;CC=c.1404T>C;ProtCh=p.V468=;VC=Silent;Gene=NRP2/NM_201266.1/1;CC=c.1404T>C;ProtCh=p.V468=;VC=Silent;Gene=NRP2/NM_201279.1/0;CC=c.1404T>C;ProtCh=p.V468=;VC=Silent;DM=NRP2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:139:89:0:0:1,138:7,4639:0.03,529.20:0.03,245.16:0.00,284.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,45.0:0,0:0,0:99,61:50,85:0,29:NM_201266.1(NRP2) c.=,NM_201266.1(NRP2) c.=:0.97,0.97:0.955251,0.955251 2 206608423 . c . . NT END=206610469;NT GT ./. 2 206608464 rs55976656 T TTTTG 21 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=59;PC=0.002;Gene=NRP2/NM_018534.3/0;CC=c.1641+211_1641+212insGTTT;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.1641+211_1641+212insGTTT;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.1641+211_1641+212insGTTT;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.1641+211_1641+212insGTTT;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.1641+211_1641+212insGTTT;VC=Intron;DM=NRP2/F5_F8_type_C;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTTG:41:5:8:0:33,8:1060,260:0.00,21.03:0.00,1.40:0.00,19.64:0.00,0.97:0.00,0.65:0.00,0.97:60,60:11.5,8.6:0,0:0,0:125,75:26,75:20,18:-,NM_201266.1(NRP2) c.1641+188_1641+189insTTTG:-,0.39:-,NOT_FOUND 2 206610615 . G . . NT END=206614448;NT GT ./. 2 206614150 rs12999827 A G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NRP2/NM_018534.3/0;CC=c.1787-299A>G;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.1787-299A>G;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.1787-299A>G;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.1787-299A>G;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.1787-299A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:168:19.18:19.18:0.00:1.00:1.00:0.00:60:78.4:0:0:26:124:20:NM_201266.1(NRP2) c.1787-299A>G,NM_201266.1(NRP2) c.1787-299A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 2 206614160 rs849560 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NRP2/NM_018534.3/0;CC=c.1787-289A>G;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.1787-289A>G;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.1787-289A>G;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.1787-289A>G;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.1787-289A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:138:16.17:16.17:0.00:1.00:1.00:0.00:60:78.4:0:0:36:114:20:NM_201266.1(NRP2) c.1787-289A>G,NM_201266.1(NRP2) c.1787-289A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 2 206614566 . G . . NT END=206617558;NT GT ./. 2 206614646 rs10932123 T G 79 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NRP2/NM_018534.3/0;CC=c.1903+81T>G;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.1903+81T>G;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.1903+81T>G;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.1903+81T>G;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.1903+81T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:1:0:0:23:681:78.98:1.79:77.19:1.00:1.00:1.00:60:37.0:0:0:89:61:33:NM_201266.1(NRP2) c.1903+81T>G,NM_201266.1(NRP2) c.1903+81T>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 206617700 . G . . NT END=206628397;NT GT ./. 2 206628661 . G . . NT END=206630197;NT GT ./. 2 206630295 . G . . NT END=206631506;NT GT ./. 2 206631543 . G . . NT END=206640969;NT GT ./. 2 206634229 rs56837273 T TACACAC 6 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=21;NP=3;NP=6;NP=85;Gene=NRP2/NM_018534.3/0;CC=c.2440+2722_2440+2723insCACACA;VC=Intron;Gene=NRP2/NM_201267.1/0;CC=c.2425+2737_2425+2738insCACACA;VC=Intron;Gene=NRP2/NM_003872.2/0;CC=c.2425+2737_2425+2738insCACACA;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.2440+2722_2440+2723insCACACA;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.2425+2737_2425+2738insCACACA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:T,TACACAC,D:5:5:3:1:2,2,1:46,102,33:0.00,6.45,2.84:0.00,3.14,-0.12:0.00,3.31,2.96:0.00,0.42,0.00:0.00,0.86,0.00:0.00,0.81,0.00:60,60,60:23.5,11.0,0.0:0,1,0:0,0,0:86,42,103:49,87,48:52,2,0:-,NM_201266.1(NRP2) c.2440+2687_2440+2688insACACAC:-,NOT_FOUND:-,NOT_FOUND 2 206641881 . G . . NT END=206656958;NT GT ./. 2 206641984 rs2041808 C T 37 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.190;Gene=NRP2/NM_003872.2/0;CC=c.2425+10457C>T;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.2440+10442C>T;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.2425+10457C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:25:4:0:0:1,12,12:10,349,390:0.10,0.00,37.50:-0.02,0.00,4.45:0.12,0.00,33.05:0.00,0.00,1.00:0.00,0.00,0.93:0.00,0.00,1.00:60,60,60:19.0,25.6,57.8:0,0,0:0,0,0:25,121,93:110,28,55:0,22,27:-,NM_201266.1(NRP2) c.2440+10442C>T:-,0.33:-,NOT_FOUND 2 206652442 rs71921772 CTG C 11 sb;idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=70;PC=0.007;Gene=NRP2/NM_003872.2/0;CC=c.2426-4481_2426-4480delGT;VC=Intron;Gene=NRP2/NM_201266.1/1;CC=c.2441-4481_2441-4480delGT;VC=Intron;Gene=NRP2/NM_201279.1/0;CC=c.2426-7000_2426-6999delGT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:4:0:5:3:164:10.56:1.83:8.74:0.78:0.97:0.97:60:16.0:2:0:98:52:12:NM_201266.1(NRP2) c.2441-4516_2441-4515delTG,NM_201266.1(NRP2) c.2441-4516_2441-4515delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 206657010 . G . . NT END=206659477;NT GT ./. 2 206659783 . C . . NT END=206869091;NT GT ./. 2 206745629 rs371879014 AACACAC A 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.096;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AACACAC,A:4:5:0:4:1,3:34,130:0.00,10.07:0.00,8.49:0.00,1.58:0.00,0.78:0.00,0.78:0.00,0.87:33,60:0.0,21.7:0,1:0,0:99,45:36,91:0,32:-,chr2 g.206745630_206745635delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 206870258 . C . . NT END=206872007;NT GT ./. 2 206870489 rs12470360 T A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=INO80D/NM_017759.4/1;CC=c.1919-232A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,T:5:0:0:0:3,2:75,57:7.43,0.00:0.00,0.00:7.43,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:32.3,34.5:0,0:0,0:121,132:29,18:23,14:NM_017759.4(INO80D) c.1919-232A>T,-:0.25,-:NOT_FOUND,- 2 206872166 . C . . NT END=206874300;NT GT ./. 2 206874339 rs817991 G A 149 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=NA;PC=1.000;Gene=INO80D/NM_017759.4/1;CC=c.1722C>T;ProtCh=p.P574=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:113:98:0:0:49,63,1:1588,1950,11:148.85,0.00,-0.13:100.62,0.00,-0.05:48.23,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.5,5.5,60.0:0,0,0:0,0,0:60,67,79:88,79,72:22,28,0:NM_017759.4(INO80D) c.1722C>T (p.(=)),-:0.38,-:0.306066,- 2 206874519 . C . . NT END=206882403;NT GT ./. 2 206874807 rs72951158 A ACACACACACG 8 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=31;Gene=INO80D/NM_017759.4/1;CC=c.1543-290_1543-289insCGTGTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,ACACACACACG:8:2:3:0:5,3:141,92:0.00,8.34:0.00,-0.20:0.00,8.54:0.00,0.67:0.00,0.67:0.00,0.67:60,60:26.8,15.3:1,0:0,0:55,111:78,39:13,3:-,NM_017759.4(INO80D) c.1543-290_1543-289insCGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 206882538 . C . . NT END=206884459;NT GT ./. 2 206884570 . C . . NT END=206892834;NT GT ./. 2 206884595 rs11366043 AT A 77 rn VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=1192;PC=0.019;Gene=INO80D/NM_017759.4/1;CC=c.1299-27delA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,A:47:25:0:25:21,1,25:649,34,788:0.00,2.01,76.97:0.00,-0.06,40.26:0.00,2.06,36.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.9,67.0,4.1:0,1,0:0,0,0:127,35,100:24,110,48:17,0,12:-,NM_017759.4(INO80D) c.1299-27delA:-,0.23:-,0.28535 2 206884792 rs817998 G A,C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:A,C:8:0:0:0:2,6:16,165:1.35,18.55:0.00,0.00:1.35,18.55:0.00,1.00:0.00,0.00:0.00,1.00:60,60:134.5,37.3:0,0:0,0:86,84:65,66:18,42:NM_017759.4(INO80D) c.1299-223C>T,NM_017759.4(INO80D) c.1299-223C>G:NOT_FOUND,0.71:NOT_FOUND,NOT_FOUND 2 206884813 rs397722251 G GT 12 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=20;PC=0.001;Gene=INO80D/NM_017759.4/1;CC=c.1299-245dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:G,T,GT:6:0:4:0:1,1,4:30,10,117:0.00,0.65,12.42:0.00,0.00,0.00:0.00,0.65,12.42:0.00,0.00,0.93:0.00,0.00,0.00:0.00,0.00,0.93:60,60,60:61.0,183.0,42.5:0,1,0:0,0,0:47,90,101:101,61,49:0,0,28:-,NM_017759.4(INO80D) c.1299-245_1299-244insA:-,NOT_FOUND:-,NOT_FOUND 2 206893060 . C . . NT END=206911227;NT GT ./. 2 206911191 rs397692845 C CA 121 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2557;PC=0.732;Gene=INO80D/NM_017759.4/1;CC=c.1073+36_1073+37insT;VC=Intron;DM=INO80D/zf-C3Hc3H;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,CA:40:42:39:0:4,36:139,1192:0.00,120.52:0.00,109.62:0.00,10.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.2,24.3:0,3:0,0:107,66:42,85:32,31:-,NM_017759.4(INO80D) c.1073+36_1073+37insT:-,NOT_FOUND:-,NOT_FOUND 2 206911228 rs2909111 G A 121 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=0.181;Gene=INO80D/NM_017759.4/1;CC=c.1073C>T;ProtCh=p.A358V;VC=Missense;DM=INO80D/zf-C3Hc3H GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:60:0:0:37,30:1233,856:121.09,0.00:87.37,0.00:33.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:38.3,14.4:0,0:0,0:50,26:100,116:32,17:NM_017759.4(INO80D) c.1073C>T (p.Ala358Val),-:0.37,-:0.31883,- 2 206911337 . C . . NT END=206920921;NT GT ./. 2 206921451 rs818009 G A 441 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.008;Gene=INO80D/NM_017759.4/1;CC=c.435C>T;ProtCh=p.T145=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:114:64:0:0:114:3862:440.53:193.57:246.95:1.00:1.00:1.00:60:38.6:0:0:63:86:26:NM_017759.4(INO80D) c.435C>T (p.(=)),NM_017759.4(INO80D) c.435C>T (p.(=)):0.71,0.71:0.716472,0.716472 2 206921668 . C . . NT END=206927522;NT GT ./. 2 206927741 . C . . NT END=206988908;NT GT ./. 2 206927850 rs17286674 G A 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.016;Gene=INO80D/NM_017759.4/1;CC=c.-30+25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:A,G:21:0:0:0:15,6:500,184:51.70,0.00:0.00,0.00:51.70,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:38.9,6.7:0,0:0,0:88,132:63,19:37,4:NM_017759.4(INO80D) c.-30+25C>T,-:0.23,-:NOT_FOUND,- 2 206981154 rs71410864 GC G 48 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=395;PC=0.056;Gene=GCSHP3/NR_033248.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:32:23:0:16:16,16:524,499:0.00,47.90:0.00,23.90:0.00,24.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,15.8:0,0:0,0:67,35:83,116:58,21:-,NR_033248.1(GCSHP3) n.142delG:-,0.41:-,NOT_FOUND 2 206981286 rs111364412 G A 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.998;Gene=GCSHP3/NR_033248.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:9:0:0:13,11:418,310:40.84,0.00:11.27,0.00:29.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,13.7:0,0:0,0:106,122:44,13:10,18:NR_033248.1(GCSHP3) n.11C>T,-:0.08,-:NOT_FOUND,- 2 206989001 . C . . NT END=206991262;NT GT ./. 2 206989062 . A C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;PC=0.024;Gene=NDUFS1/NM_001199984.1/0;CC=c.2135-62T>G;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1985-62T>G;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1760-62T>G;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1922-62T>G;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.2093-62T>G;VC=Intron;DM=NDUFS1/NADH_dhqG_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:17:10:0:0:9,8:269,262:0.00,24.92:0.00,12.80:0.00,12.12:0.00,0.99:0.00,1.00:0.00,1.00:60,60:2.7,41.0:0,0:0,0:102,132:48,18:36,11:-,NM_005006.6(NDUFS1) c.2093-62T>G:-,NOT_FOUND:-,NOT_FOUND 2 206989170 rs2045858 C A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.116;Gene=NDUFS1/NM_001199984.1/0;CC=c.2135-170G>T;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1985-170G>T;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1760-170G>T;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1922-170G>T;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.2093-170G>T;VC=Intron;DM=NDUFS1/NADH_dhqG_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,C:8:2:0:0:4,4:133,109:12.82,0.00:3.30,0.00:9.52,0.00:0.87,0.00:0.79,0.00:0.73,0.00:60,60:47.0,5.2:0,0:0,0:85,94:64,56:25,38:NM_005006.6(NDUFS1) c.2093-170G>T,-:0.49,-:NOT_FOUND,- 2 206990984 rs4147727 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NDUFS1/NM_001199984.1/0;CC=c.2134+279T>C;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1984+279T>C;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1759+279T>C;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1921+279T>C;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.2092+279T>C;VC=Intron;DM=NDUFS1/NADH_dhqG_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:5:5:0:0:2,3:60,94:0.00,9.37:0.00,9.37:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:22.0,31.3:0,0:0,0:80,52:70,96:55,2:-,NM_005006.6(NDUFS1) c.2092+279T>C:-,0.49:-,NOT_FOUND 2 206991336 . C . . NT END=206991433;NT GT ./. 2 206991569 . C . . NT END=206992520;NT GT ./. 2 206992371 rs4147726 G A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.008;Gene=NDUFS1/NM_001199984.1/0;CC=c.1926+150C>T;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1776+150C>T;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1551+150C>T;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1713+150C>T;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1884+150C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G,T:9:9:0:0:3,5,1:88,168,9:7.92,0.00,0.25:7.92,0.00,0.25:0.00,0.00,0.00:0.64,0.00,0.00:0.64,0.00,0.00:0.00,0.00,0.00:60,60,60:33.3,0.0,212.0:0,0,0:0,0,0:33,56,114:118,95,36:3,38,0:NM_005006.6(NDUFS1) c.1884+150C>T,-:0.47,-:NOT_FOUND,- 2 206992697 . C . . NT END=206994811;NT GT ./. 2 206994967 . C . . NT END=206997668;NT GT ./. 2 206995139 rs3770987 C A 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=NDUFS1/NM_001199984.1/0;CC=c.1596-173G>T;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1446-173G>T;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1221-173G>T;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1383-173G>T;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1554-173G>T;VC=Intron;DM=NDUFS1/Molybdopterin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:0:0:0:8,9:270,199:25.79,0.00:0.00,0.00:25.79,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:44.1,19.9:0,0:0,0:95,40:56,111:24,25:NM_005006.6(NDUFS1) c.1554-173G>T,-:0.47,-:NOT_FOUND,- 2 206997419 rs4147721 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=NDUFS1/NM_001199984.1/0;CC=c.1595+250C>T;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1445+250C>T;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1220+250C>T;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1382+250C>T;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1553+250C>T;VC=Intron;DM=NDUFS1/Molybdopterin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:4:0:0:3,1:94,35:9.85,0.00:9.85,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:49.3,0.0:0,0:0,0:70,29:81,122:43,0:NM_005006.6(NDUFS1) c.1553+250C>T,-:0.51,-:NOT_FOUND,- 2 206997830 . C . . NT END=207003208;NT GT ./. 2 206997835 rs3217138 TA T 9 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=5;Gene=NDUFS1/NM_001199984.1/0;CC=c.1435-7delT;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1285-7delT;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1060-7delT;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1222-7delT;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1393-7delT;VC=Intron;DM=NDUFS1/Molybdopterin;DM=NDUFS1/Molybdopterin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:TA,I,T:44:16:4:4:36,4,4:1063,126,127:0.00,8.86,8.96:0.00,5.15,-0.37:0.00,3.71,9.33:0.00,0.00,0.57:0.00,0.00,0.68:0.00,0.00,0.91:60,60,60:10.9,2.5,11.8:0,0,0:0,0,0:92,48,100:58,85,50:36,11,17:-,NM_005006.6(NDUFS1) c.1393-7delT:-,NOT_FOUND:-,0.035098 2 206998050 rs4147720 A G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003;Gene=NDUFS1/NM_001199984.1/0;CC=c.1435-221T>C;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1285-221T>C;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.1060-221T>C;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1222-221T>C;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1393-221T>C;VC=Intron;DM=NDUFS1/Molybdopterin;DM=NDUFS1/Molybdopterin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:0:0:0:2,2:67,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,35.0:0,0:0,0:96,114:54,36:24,4:-,NM_005006.6(NDUFS1) c.1393-221T>C:-,0.47:-,NOT_FOUND 2 207003339 . C . . NT END=207006664;NT GT ./. 2 207003438 rs4147729 TA T 39 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1689;PC=0.026;Gene=NDUFS1/NM_001199984.1/0;CC=c.1305-101delT;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1155-101delT;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.930-101delT;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1092-101delT;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1263-101delT;VC=Intron;DM=NDUFS1/Molybdopterin;DM=NDUFS1/Molybdopterin;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:26:5:0:13:13,13:385,411:0.00,39.49:0.00,4.76:0.00,34.72:0.00,1.00:0.00,0.96:0.00,1.00:60,60:12.5,8.6:0,0:0,0:104,105:47,46:16,15:-,NM_005006.6(NDUFS1) c.1263-101delT:-,0.4:-,NOT_FOUND 2 207006522 rs372162465 C CA 11 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=NDUFS1/NM_001199984.1/0;CC=c.1304+142_1304+143insT;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1154+142_1154+143insT;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.929+142_929+143insT;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.1091+142_1091+143insT;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1262+142_1262+143insT;VC=Intron;DM=NDUFS1/Molybdopterin;DM=NDUFS1/Molybdopterin;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:C,CA:10:10:4:0:6,4:191,124:0.00,11.39:0.00,11.39:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:24.3,14.5:0,0:0,0:6,42:145,108:3,22:-,NM_005006.6(NDUFS1) c.1262+142_1262+143insT:-,NOT_FOUND:-,NOT_FOUND 2 207006794 . C . . NT END=207007409;NT GT ./. 2 207006825 rs4147718 C A 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.007;Gene=NDUFS1/NM_001199984.1/0;CC=c.1176-32G>T;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.1026-32G>T;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.801-32G>T;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.963-32G>T;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.1134-32G>T;VC=Intron;DM=NDUFS1/Molybdopterin;DM=NDUFS1/Molybdopterin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:11:0:0:15,22:461,759:42.40,0.00:5.62,0.00:36.79,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:34.7,3.3:0,0:0,0:84,97:65,54:31,36:NM_005006.6(NDUFS1) c.1134-32G>T,-:0.41,-:0.433005,- 2 207007556 . C . . NT END=207008741;NT GT ./. 2 207008675 rs35409448 C CT 21 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2075;Gene=NDUFS1/NM_001199984.1/0;CC=c.1029+66_1029+67insA;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.879+66_879+67insA;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.654+66_654+67insA;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.816+66_816+67insA;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.987+66_987+67insA;VC=Intron;DM=NDUFS1/Molybdopterin;DM=NDUFS1/Molybdopterin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CT:18:17:7:0:1,10,7:20,277,223:1.00,0.00,20.64:-0.24,0.00,19.07:1.23,0.00,1.58:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.79:60,60,60:30.0,18.0,22.9:0,0,0:0,0,0:22,59,32:129,83,117:0,15,25:-,NM_005006.6(NDUFS1) c.987+66_987+67insA:-,0.49:-,NOT_FOUND 2 207008763 rs1127566 C A 44 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=in-clinvar;PAF=NA;PC=0.023;Gene=NDUFS1/NM_001199984.1/0;CC=c.1008G>T;ProtCh=p.A336=;VC=Silent;Gene=NDUFS1/NM_001199981.1/0;CC=c.858G>T;ProtCh=p.A286=;VC=Silent;Gene=NDUFS1/NM_001199982.1/0;CC=c.633G>T;ProtCh=p.A211=;VC=Silent;Gene=NDUFS1/NM_001199983.1/0;CC=c.795G>T;ProtCh=p.A265=;VC=Silent;Gene=NDUFS1/NM_005006.6/1;CC=c.966G>T;ProtCh=p.A322=;VC=Silent;DM=NDUFS1/Molybdopterin;DM=NDUFS1/Molybdopterin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:32:25:0:0:14,18:465,575:43.65,0.00:28.11,0.00:15.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,14.1:0,0:0,0:53,49:97,95:19,35:NM_005006.6(NDUFS1) c.966G>T (p.(=)),-:0.47,-:0.509611,- 2 207008857 . C . . NT END=207009615;NT GT ./. 2 207009751 . C . . NT END=207011626;NT GT ./. 2 207011813 . C . . NT END=207012254;NT GT ./. 2 207012034 rs75610165 A G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.155;Gene=NDUFS1/NM_001199984.1/0;CC=c.593+221T>C;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.443+221T>C;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.218+221T>C;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.380+221T>C;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.551+221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:8:0:0:7,7:235,232:0.00,22.32:0.00,13.00:0.00,9.32:0.00,0.99:0.00,0.87:0.00,0.73:60,60:6.4,33.1:0,0:0,0:62,52:89,98:16,43:-,NM_005006.6(NDUFS1) c.551+221T>C:-,0.08:-,NOT_FOUND 2 207012386 . C . . NT END=207012476;NT GT ./. 2 207012559 . C . . NT END=207013743;NT GT ./. 2 207013821 . C . . NT END=207014541;NT GT ./. 2 207014339 rs397754600 G GAC 13 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=556;PC=0.043;Gene=NDUFS1/NM_001199984.1/0;CC=c.303+201_303+202dupGT;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.154-521_154-520dupGT;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.6-1783_6-1782dupGT;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.90+201_90+202dupGT;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.261+201_261+202dupGT;VC=Intron;DM=NDUFS1/Fer2_4;DM=NDUFS1/Fer2_4;DM=NDUFS1/Fer2_4;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GAC:6:5:4:0:2,4:68,127:0.00,12.95:0.00,13.43:0.00,-0.48:0.00,0.93:0.00,0.99:0.00,0.78:60,60:0.0,0.0:0,0:0,0:94,108:54,42:40,12:-,NM_005006.6(NDUFS1) c.261+202_261+203insGT:-,0.58:-,NOT_FOUND 2 207014650 . C . . NT END=207017142;NT GT ./. 2 207014657 . TA T 12 idl,rn VT=DEL;SST=Single;DP=16;PC=0.002;Gene=NDUFS1/NM_001199984.1/0;CC=c.196-9delT;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.154-838delT;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.6-2100delT;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.-18-9delT;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.154-9delT;VC=Intron;DM=NDUFS1/Fer2_4;DM=NDUFS1/Fer2_4;DM=NDUFS1/Fer2_4;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:TA,T:13:11:0:9:9,4:255,226:0.00,11.79:0.00,10.69:0.00,1.10:0.00,0.97:0.00,0.93:0.00,0.80:60,60:24.6,31.0:0,3:0,0:135,74:15,76:10,11:-,NM_005006.6(NDUFS1) c.154-9delT:-,NOT_FOUND:-,NOT_FOUND 2 207017235 . C . . NT END=207018341;NT GT ./. 2 207018407 . C . . NT END=207023819;NT GT ./. 2 207023595 rs4147709 C A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.004;Gene=NDUFS1/NM_001199984.1/0;CC=c.38+225G>T;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.-5+470G>T;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.-61+470G>T;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.-84+470G>T;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.-5+470G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:A,C,G:10:10:0:0:5,4,1:164,120,10:16.08,0.00,0.37:16.08,0.00,0.37:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:62.6,2.5,46.0:0,0,0:0,0,0:26,28,57:124,122,94:7,9,0:NM_005006.6(NDUFS1) c.-5+470G>T,-:0.49,-:NOT_FOUND,- 2 207023620 rs4147708 A G 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NDUFS1/NM_001199984.1/0;CC=c.38+200T>C;VC=Intron;Gene=NDUFS1/NM_001199981.1/0;CC=c.-5+445T>C;VC=Intron;Gene=NDUFS1/NM_001199982.1/0;CC=c.-61+445T>C;VC=Intron;Gene=NDUFS1/NM_001199983.1/0;CC=c.-84+445T>C;VC=Intron;Gene=NDUFS1/NM_005006.6/1;CC=c.-5+445T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,G:10:10:0:0:4,6:132,185:0.00,18.40:0.00,18.40:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.0,59.8:0,0:0,0:43,53:107,96:10,11:-,NM_005006.6(NDUFS1) c.-5+445T>C:-,0.49:-,NOT_FOUND 2 207023858 . C . . NT END=207024703;NT GT ./. 2 207024784 . G . . NT END=207025311;NT GT ./. 2 207024886 rs71034414 G GC 65 sb,nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1805;PC=0.002;Gene=EEF1B2/NM_001037663.1/0;CC=c.80+106dupC;VC=Intron;Gene=EEF1B2/NM_001959.3/0;CC=c.80+106dupC;VC=Intron;Gene=EEF1B2/NM_021121.3/1;CC=c.80+106dupC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,GC:31:3:22:0:1,8,22:32,240,625:2.07,0.00,65.38:-0.02,0.00,0.40:2.09,0.00,64.99:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:32.0,22.5,14.5:0,0,0:0,0,0:0,146,74:151,5,77:0,1,29:-,NM_001959.3(EEF1B2) c.80+103_80+104insC:-,NOT_FOUND:-,NOT_FOUND 2 207024890 . G C 7 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;PC=0.008;Gene=EEF1B2/NM_001037663.1/0;CC=c.80+107G>C;VC=Intron;Gene=EEF1B2/NM_001959.3/0;CC=c.80+107G>C;VC=Intron;Gene=EEF1B2/NM_021121.3/1;CC=c.80+107G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:C,G:27:1:0:0:4,23:98,683:6.80,0.00:-0.06,0.00:6.87,0.00:0.66,0.00:0.43,0.00:0.95,0.00:60,60:31.2,15.3:0,22:0,0:149,77:2,74:0,32:NM_001959.3(EEF1B2) c.80+107G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 207025435 . G . . NT END=207026069;NT GT ./. 2 207025444 rs11689362 T C 166 nt VT=SNV;PN=A;NN=C;SST=Single;DP=106;DB;DBA=NA;PAF=NA;Gene=EEF1B2/NM_001037663.1/0;CC=c.203+10T>C;VC=Intron;Gene=EEF1B2/NM_001959.3/0;CC=c.203+10T>C;VC=Intron;Gene=EEF1B2/NM_021121.3/1;CC=c.203+10T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:106:46:0:0:53,53:1730,1700:166.36,0.00:53.10,0.00:113.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,6.3:0,0:0,0:93,119:52,28:32,25:NM_001959.3(EEF1B2) c.203+10T>C,-:0.47,-:0.511072,- 2 207026197 . G . . NT END=207026761;NT GT ./. 2 207026471 rs3755229 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.002;Gene=EEF1B2/NM_001037663.1/0;CC=c.330+275C>T;VC=Intron;Gene=EEF1B2/NM_001959.3/0;CC=c.330+275C>T;VC=Intron;Gene=EEF1B2/NM_021121.3/1;CC=c.330+275C>T;VC=Intron;DM=EEF1B2/EF-1_beta_acid;DM=EEF1B2/EF-1_beta_acid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:11:3:0:0:4,7:106,228:0.00,23.01:0.00,6.32:0.00,16.69:0.00,1.00:0.00,0.96:0.00,1.00:60,60:35.2,78.1:0,0:0,0:83,133:66,17:17,6:-,NM_001959.3(EEF1B2) c.330+275C>T:-,0.47:-,NOT_FOUND 2 207026829 . G . . NT END=207027212;NT GT ./. 2 207027339 . G . . NT END=207027452;NT GT ./. 2 207027356 . CT C 25 idl,rn VT=DEL;SST=Single;DP=138;NP=84;PC=0.003;Gene=EEF1B2/NM_001037663.1/0;CC=c.523+29delT;VC=Intron;Gene=EEF1B2/NM_001959.3/0;CC=c.523+29delT;VC=Intron;Gene=EEF1B2/NM_021121.3/1;CC=c.523+29delT;VC=Intron;DM=EEF1B2/EF1_GNE;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:CT,I,C:136:82:5:12:121,4,11:3892,162,396:0.00,7.03,25.01:0.00,6.71,9.97:0.00,0.32,15.05:0.00,0.00,0.98:0.00,0.00,0.99:0.00,0.00,0.99:60,60,60:13.3,10.5,4.7:0,1,1:0,0,0:81,76,75:69,73,73:42,21,32:-,NM_001959.3(EEF1B2) c.523+19delT:-,NOT_FOUND:-,NOT_FOUND 2 207027407 rs78028628 C CT 172 nt VT=INS;SST=Single;DP=138;DB;DBA=NA;PAF=NA;NP=2384;Gene=EEF1B2/NM_001037663.1/0;CC=c.524-46_524-45insT;VC=Intron;Gene=EEF1B2/NM_001959.3/0;CC=c.524-46_524-45insT;VC=Intron;Gene=EEF1B2/NM_021121.3/1;CC=c.524-46_524-45insT;VC=Intron;DM=EEF1B2/EF1_GNE;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT:138:85:60:0:76,2,60:2385,38,1840:0.00,1.18,172.10:0.00,-0.12,82.90:0.00,1.30,89.21:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.4,48.5,13.2:0,2,0:0,0,0:79,72,59:68,63,89:45,2,38:-,NM_001959.3(EEF1B2) c.524-46_524-45insT:-,0.49:-,0.541787 2 207027608 . A . . NT END=207040903;NT GT ./. 2 207040777 rs112540540 T C 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=GPR1/NM_001261454.1/0;CC=c.*127A>G;VC=3UTR;Gene=GPR1/NM_001261455.1/0;CC=c.*127A>G;VC=3UTR;Gene=GPR1/NM_001098199.1/0;CC=c.*127A>G;VC=3UTR;Gene=GPR1/NM_001261452.1/0;CC=c.*127A>G;VC=3UTR;Gene=GPR1/NM_001261453.1/1;CC=c.*127A>G;VC=3UTR;Gene=GPR1/NM_005279.3/0;CC=c.*127A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:235,235:22.62,0.00:22.62,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:41.0,4.7:0,0:0,0:31,77:118,74:26,21:NM_001261453.1(GPR1) c.*127A>G,-:0.09,-:NOT_FOUND,- 2 207041053 rs3732083 T C 168 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=NA;PC=1.000;Gene=GPR1/NM_001261454.1/0;CC=c.919A>G;ProtCh=p.I307V;VC=Missense;Gene=GPR1/NM_001261455.1/0;CC=c.919A>G;ProtCh=p.I307V;VC=Missense;Gene=GPR1/NM_001098199.1/0;CC=c.919A>G;ProtCh=p.I307V;VC=Missense;Gene=GPR1/NM_001261452.1/0;CC=c.919A>G;ProtCh=p.I307V;VC=Missense;Gene=GPR1/NM_001261453.1/1;CC=c.919A>G;ProtCh=p.I307V;VC=Missense;Gene=GPR1/NM_005279.3/0;CC=c.919A>G;ProtCh=p.I307V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:105:76:0:0:54,51:1736,1658:167.65,0.00:102.44,0.00:65.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,3.5:0,0:0,0:61,71:80,70:43,36:NM_001261453.1(GPR1) c.919A>G (p.Ile307Val),-:0.47,-:0.511302,- 2 207041972 . G . . NT END=207146573;NT GT ./. 2 207101446 rs726165 G A 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.976;Gene=GPR1-AS/NR_104359.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:3:0:0:3,1:105,34:10.95,0.00:7.70,0.00:3.25,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,60:107.0,0.0:0,0:0,0:47,138:103,12:2,0:chr2 g.207101445G>A (intergenic),-:0.6,-:NOT_FOUND,- 2 207146634 . G . . NT END=207161969;NT GT ./. 2 207162098 . G . . NT END=207169440;NT GT ./. 2 207169731 rs10932150 G A 219 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=168;DB;DBA=NA;PAF=NA;PC=0.067;Gene=ZDBF2/NM_020923.2/1;CC=c.479G>A;ProtCh=p.R160K;VC=Missense;Gene=ZDBF2/NM_001285549.1/0;CC=c.473G>A;ProtCh=p.R158K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:168:89:0:0:72,1,95:2339,11,3161:218.67,-0.17,0.00:102.43,-0.10,0.00:116.25,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,22.0,4.9:0,0,0:0,0,0:74,38,78:73,113,73:32,0,40:NM_020923.1(ZDBF2) c.479G>A (p.Arg160Lys),-:0.4,-:0.460205,- 2 207172627 rs7582864 A G 221 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=NA;Gene=ZDBF2/NM_020923.2/1;CC=c.3375A>G;ProtCh=p.Q1125=;VC=Silent;Gene=ZDBF2/NM_001285549.1/0;CC=c.3369A>G;ProtCh=p.Q1123=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:132:88:0:0:62,70:1896,2268:0.00,220.54:0.00,143.35:0.00,77.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,41.5:0,0:0,0:57,77:89,73:34,34:-,NM_020923.1(ZDBF2) c.3375A>G (p.(=)):-,0.47:-,0.533468 2 207174316 rs3732084 T C 257 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=154;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ZDBF2/NM_020923.2/1;CC=c.5064T>C;ProtCh=p.S1688=;VC=Silent;Gene=ZDBF2/NM_001285549.1/0;CC=c.5058T>C;ProtCh=p.S1686=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:154:109:0:0:79,1,74:2657,8,2292:257.44,-0.16,0.00:144.27,-0.11,0.00:113.16,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.7,33.0,5.8:0,0,0:0,0,0:67,24,53:77,125,91:29,0,31:NM_020923.1(ZDBF2) c.5064T>C (p.(=)),-:0.48,-:0.559937,- 2 207176318 . A . . NT END=207308590;NT GT ./. 2 207308805 . G . . NT END=207310030;NT GT ./. 2 207310249 . G . . NT END=207345955;NT GT ./. 2 207346033 . G . . NT END=207395608;NT GT ./. 2 207346238 rs12694056 C A 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ADAM23/NM_003812.3/1;CC=c.509+206C>A;VC=Intron;DM=ADAM23/Pep_M12B_propep;DM=ADAM23/Pep_M12B_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:170:19.82:0.00:19.82:1.00:0.00:1.00:60:40.2:0:0:114:30:15:NM_003812.2(ADAM23) c.509+206C>A,NM_003812.2(ADAM23) c.509+206C>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 207395673 . G . . NT END=207406775;NT GT ./. 2 207406859 . G . . NT END=207407976;NT GT ./. 2 207408041 . G . . NT END=207412152;NT GT ./. 2 207412226 . G . . NT END=207413004;NT GT ./. 2 207413079 . G . . NT END=207414818;NT GT ./. 2 207414885 . G . . NT END=207422150;NT GT ./. 2 207422223 . G . . NT END=207424678;NT GT ./. 2 207424843 . G . . NT END=207425851;NT GT ./. 2 207425937 . G . . NT END=207426926;NT GT ./. 2 207426604 rs7577671 A G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ADAM23/NM_003812.3/1;CC=c.1255-323A>G;VC=Intron;DM=ADAM23/Reprolysin;DM=ADAM23/Reprolysin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:4:4:0:0:1,3:29,79:0.00,8.32:0.00,8.32:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:106.0,26.3:0,0:0,0:21,83:130,68:0,38:-,NM_003812.2(ADAM23) c.1255-323A>G:-,0.15:-,NOT_FOUND 2 207427018 . G . . NT END=207429743;NT GT ./. 2 207429793 . G . . NT END=207431946;NT GT ./. 2 207432047 . G . . NT END=207435463;NT GT ./. 2 207435536 . G . . NT END=207436450;NT GT ./. 2 207436541 . G . . NT END=207437838;NT GT ./. 2 207437920 . G . . NT END=207452048;NT GT ./. 2 207451965 rs76058025 C A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=ADAM23/NM_003812.3/1;CC=c.1738-84C>A;VC=Intron;DM=ADAM23/Disintegrin;DM=ADAM23/Disintegrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:A,C:12:10:0:0:4,8:130,222:11.61,0.00:8.96,0.00:2.64,0.00:0.80,0.00:0.97,0.00:0.73,0.00:60,60:35.2,23.6:0,0:0,0:77,35:73,107:20,24:NM_003812.2(ADAM23) c.1738-84C>A,-:0.03,-:NOT_FOUND,- 2 207452100 . G . . NT END=207452814;NT GT ./. 2 207452151 rs397711140 GT G 33 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3066;Gene=ADAM23/NM_003812.3/1;CC=c.1788+61delT;VC=Intron;DM=ADAM23/ADAM_CR;DM=ADAM23/ADAM_CR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:4:0:9:9:290:33.29:9.54:23.75:1.00:1.00:1.00:60:2.4:0:0:108:43:19:NM_003812.2(ADAM23) c.1788+53delT,NM_003812.2(ADAM23) c.1788+53delT:NOT_FOUND,NOT_FOUND:0.872456,0.872456 2 207452879 . G . . NT END=207454132;NT GT ./. 2 207454239 . G . . NT END=207457340;NT GT ./. 2 207457461 . G . . NT END=207459460;NT GT ./. 2 207459197 rs3732078 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ADAM23/NM_003812.3/1;CC=c.2079-264G>A;VC=Intron;DM=ADAM23/ADAM_CR;DM=ADAM23/ADAM_CR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:A,G:8:8:0:0:4,4:139,117:13.40,0.00:13.40,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:51.5,25.2:0,0:0,0:93,65:57,84:28,20:NM_003812.2(ADAM23) c.2079-264G>A,-:0.09,-:NOT_FOUND,- 2 207459630 . G . . NT END=207460774;NT GT ./. 2 207460887 . G . . NT END=207474633;NT GT ./. 2 207474725 . G . . NT END=207482302;NT GT ./. 2 207482037 rs11886147 C T 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ADAM23/NM_003812.3/1;CC=c.2451-266C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:113:13.19:13.19:0.00:1.00:1.00:0.00:60:38.8:0:0:24:125:17:NM_003812.2(ADAM23) c.2451-266C>T,NM_003812.2(ADAM23) c.2451-266C>T:0.08,0.08:NOT_FOUND,NOT_FOUND 2 207482443 . A . . NT END=207508960;NT GT ./. 2 207508741 rs4673360 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.002;Gene=LOC200726/NM_001102659.1/1;CC=c.-10-210C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,T:13:13:0:0:8,5:237,153:0.00,13.91:0.00,13.91:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:19.5,39.2:0,0:0,0:36,49:111,102:21,13:-,NM_001102659.1(LOC200726) c.-10-210C>T:-,0.41:-,NOT_FOUND 2 207509373 . G . . NT END=207513384;NT GT ./. 2 207513519 . A . . NT END=207516541;NT GT ./. 2 207516646 . C . . NT END=207527626;NT GT ./. 2 207516721 rs35581991 A G 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.1634-76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:6:0:0:15,15:418,523:0.00,50.47:0.00,4.91:0.00,45.56:0.00,1.00:0.00,0.73:0.00,1.00:60,60:11.1,43.4:0,0:0,0:107,115:43,36:38,27:-,NM_001093730.1(DYTN) c.1634-76T>C:-,0.07:-,NOT_FOUND 2 207527608 rs2359680 T C 167 nt VT=SNV;PN=A;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.1633+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:106:92:0:0:52,1,53:1735,10,1642:166.74,-0.12,0.00:123.79,-0.06,0.00:42.96,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.8,52.0,7.4:0,0,0:0,0,0:49,48,51:96,103,100:23,0,31:NM_001093730.1(DYTN) c.1633+19A>G,-:0.1,-:0.125723,- 2 207527840 rs2115591 G T 214 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=172;DB;DBA=NA;PAF=NA;PC=0.002;Gene=DYTN/NM_001093730.1/1;CC=c.1420C>A;ProtCh=p.Q474K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:172:110:0:0:100,72:3257,2307:0.00,214.23:0.00,117.39:0.00,96.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,39.5:0,0:0,0:79,86:69,62:40,29:-,NM_001093730.1(DYTN) c.1420C>A (p.Gln474Lys):-,0.39:-,0.429 2 207528120 . C . . NT END=207530593;NT GT ./. 2 207530754 . C . . NT END=207557898;NT GT ./. 2 207530855 rs13022891 G C 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.981-102C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:12:0:0:23,16:739,526:73.37,0.00:17.23,0.00:56.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,17.9:0,0:0,0:113,80:37,70:21,43:NM_001093730.1(DYTN) c.981-102C>G,-:0.1,-:NOT_FOUND,- 2 207532421 rs71410894 C CGTGTGTGT 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=16;NP=3;PC=0.028;Gene=DYTN/NM_001093730.1/1;CC=c.981-1669_981-1668insACACACAC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,CGTGTGTGT:4:5:3:0:2,2:71,97:0.00,6.41:0.00,4.90:0.00,1.52:0.00,0.46:0.00,0.46:0.00,0.80:60,60:0.0,16.0:0,1:0,0:72,36:30,115:54,27:-,NM_001093730.1(DYTN) c.981-1669_981-1668insACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 207557616 rs6710079 A T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.980+283T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,T:9:9:0:0:3,6:71,178:0.00,18.20:0.00,18.20:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:58.7,56.5:0,0:0,0:19,17:132,133:13,14:-,NM_001093730.1(DYTN) c.980+283T>A:-,0.04:-,NOT_FOUND 2 207558048 . C . . NT END=207559489;NT GT ./. 2 207559296 rs78031420 A T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.003;Gene=DYTN/NM_001093730.1/1;CC=c.831+194T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,T:6:6:0:0:3,3:99,84:0.00,8.02:0.00,8.02:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:22.3,37.7:0,0:0,0:18,53:133,98:18,8:-,NM_001093730.1(DYTN) c.831+194T>A:-,0.01:-,NOT_FOUND 2 207559602 . C . . NT END=207564450;NT GT ./. 2 207559646 rs71410896 G GA 32 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=11;NP=3;PC=0.538;Gene=DYTN/NM_001093730.1/1;CC=c.720-46dupT;VC=Intron;DM=DYTN/ZZ;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA,D:34:13:14:6:17,12,5:556,403,142:0.00,32.31,11.20:0.00,11.63,4.17:0.00,20.68,7.03:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:11.1,31.8,29.0:0,2,0:0,0,0:141,92,100:9,49,43:9,17,15:-,NM_001093730.1(DYTN) c.720-46_720-45insT:-,NOT_FOUND:-,NOT_FOUND 2 207564615 . C . . NT END=207564868;NT GT ./. 2 207564941 . C . . NT END=207569566;NT GT ./. 2 207569623 rs116768218 A C 95 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=NA;PC=0.015;Gene=DYTN/NM_001093730.1/1;CC=c.427T>G;ProtCh=p.S143A;VC=Missense;DM=DYTN/EF-hand_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:65:49:0:0:36,29:1187,1005:0.00,94.93:0.00,44.71:0.00,50.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,36.3:0,0:0,0:77,69:57,82:27,24:-,NM_001093730.1(DYTN) c.427T>G (p.Ser143Ala):-,0.02:-,0.03031 2 207569668 . C . . NT END=207570511;NT GT ./. 2 207569715 rs16838626 T C 44 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.383-48A>G;VC=Intron;DM=DYTN/EF-hand_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:10:0:0:15,20:474,666:44.17,0.00:4.22,0.00:39.95,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:43.6,30.3:0,0:0,0:101,117:50,33:23,16:NM_001093730.1(DYTN) c.383-48A>G,-:0.35,-:0.299801,- 2 207569803 rs16838630 A C 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.006;Gene=DYTN/NM_001093730.1/1;CC=c.383-136T>G;VC=Intron;DM=DYTN/EF-hand_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C:12:0:0:0:5,7:156,206:0.00,20.40:0.00,0.00:0.00,20.40:0.00,0.99:0.00,0.00:0.00,0.99:60,60:2.0,63.6:0,0:0,0:129,116:22,35:9,14:-,NM_001093730.1(DYTN) c.383-136T>G:-,0.35:-,NOT_FOUND 2 207570529 rs56067462 G C 99 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=1.000;Gene=DYTN/NM_001093730.1/1;CC=c.365C>G;ProtCh=p.P122R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:77:64:0:0:32,45:1061,1499:98.66,0.00:66.54,0.00:32.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,8.3:0,0:0,0:54,60:94,86:19,32:NM_001093730.1(DYTN) c.365C>G (p.Pro122Arg),-:0.04,-:0.071119,- 2 207570598 . C . . NT END=207572025;NT GT ./. 2 207570705 rs16838632 A G 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.297-108T>C;VC=Intron;DM=DYTN/EF-hand_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:22:1:0:0:11,1,9,1:340,10,305,10:0.00,0.12,28.81,0.12:0.00,-0.01,-0.11,-0.01:0.00,0.13,28.92,0.13:0.00,0.00,1.00,0.00:0.00,0.00,0.61,0.00:0.00,0.00,1.00,0.00:60,60,60,60:18.3,110.0,37.6,203.0:0,0,0,0:0,0,0,0:71,78,97,125:80,73,54,26:25,0,42,0:-,NM_001093730.1(DYTN) c.297-108T>C:-,0.31:-,NOT_FOUND 2 207571816 rs4675625 T C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.296+210A>G;VC=Intron;DM=DYTN/EF-hand_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T:11:11:0:0:7,4:221,117:22.32,0.00:22.32,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:66.7,17.5:0,0:0,0:32,16:119,134:30,6:NM_001093730.1(DYTN) c.296+210A>G,-:0.19,-:NOT_FOUND,- 2 207571859 rs79982783 C T 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.296+167G>A;VC=Intron;DM=DYTN/EF-hand_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:C,G,T:18:18:0:0:6,1,11:163,9,313:0.00,0.18,31.73:0.00,0.18,31.73:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:28.5,60.0,53.7:0,0,0:0,0,0:53,77,45:97,73,106:20,0,26:-,NM_001093730.1(DYTN) c.296+167G>A:-,0.04:-,NOT_FOUND 2 207572228 . C . . NT END=207575247;NT GT ./. 2 207572341 rs16838641 T G 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DYTN/NM_001093730.1/1;CC=c.95-114A>C;VC=Intron;DM=DYTN/EF-hand_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:26:0:0:0:15,11:475,352:46.94,0.00:0.00,0.00:46.94,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:56.5,4.0:0,0:0,0:116,116:34,34:24,33:NM_001093730.1(DYTN) c.95-114A>C,-:0.32,-:NOT_FOUND,- 2 207572396 rs10490747 C A 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.95-169G>T;VC=Intron;DM=DYTN/EF-hand_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:14:0:0:0:8,6:190,212:18.56,0.00:0.00,0.00:18.56,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:66.4,7.3:0,0:0,0:91,102:59,48:31,17:NM_001093730.1(DYTN) c.95-169G>T,-:0.36,-:NOT_FOUND,- 2 207575074 rs74345488 C T 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=DYTN/NM_001093730.1/1;CC=c.94+174G>A;VC=Intron;DM=DYTN/EF-hand_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:13:13:0:0:9,4:303,132:0.00,11.62:0.00,11.62:0.00,0.00:0.00,0.79:0.00,0.79:0.00,0.00:60,60:13.0,33.0:0,0:0,0:75,38:76,113:35,27:-,NM_001093730.1(DYTN) c.94+174G>A:-,0.04:-,NOT_FOUND 2 207575323 . C . . NT END=207582984;NT GT ./. 2 207581767 rs71852382 AAC A 13 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=237;Gene=DYTN/NM_001093730.1/1;CC=c.19+1216_19+1217delGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AAC,A:5:3:0:4:1,4:33,119:0.00,12.72:0.00,8.15:0.00,4.57:0.00,0.96:0.00,0.99:0.00,0.99:60,60:12.0,5.8:0,0:0,0:114,44:30,106:0,19:-,NM_001093730.1(DYTN) c.19+1216_19+1217delGT:-,NOT_FOUND:-,NOT_FOUND 2 207583004 . T . . NT END=207603206;NT GT ./. 2 207603236 . C . . NT END=207604316;NT GT ./. 2 207604386 . C . . NT END=207605777;NT GT ./. 2 207605928 . g . . NT END=207610345;NT GT ./. 2 207610398 . C . . NT END=207611010;NT GT ./. 2 207611151 . C . . NT END=207613743;NT GT ./. 2 207613908 . C . . NT END=207615657;NT GT ./. 2 207613980 rs13427620 G A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=MDH1B/NM_001039845.2/1;CC=c.1053-73C>T;VC=Intron;Gene=MDH1B/NM_001282940.1/0;CC=c.1053-73C>T;VC=Intron;Gene=MDH1B/NR_104261.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:5:0:0:16,12:531,408:52.43,0.00:4.93,0.00:47.49,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:35.6,0.9:0,0:0,0:112,110:38,40:24,14:NM_001039845.1(MDH1B) c.1053-73C>T,-:0.51,-:NOT_FOUND,- 2 207615800 . C . . NT END=207619732;NT GT ./. 2 207620230 . C . . NT END=207621621;NT GT ./. 2 207621759 rs1990849 A G 175 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=3467;PC=1.000;Gene=MDH1B/NM_001039845.2/1;CC=c.276T>C;ProtCh=p.Y92=;VC=Silent;Gene=MDH1B/NM_001282940.1/0;CC=c.276T>C;ProtCh=p.Y92=;VC=Silent;Gene=MDH1B/NR_104261.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G:47:23:0:0:47:1530:175.35:64.10:111.25:1.00:1.00:1.00:60:36.6:0:0:99:51:36:NM_001039845.1(MDH1B) c.276T>C (p.(=)),NM_001039845.1(MDH1B) c.276T>C (p.(=)):1,1:0.999846,0.999846 2 207621765 . C . . NT END=207621960;NT GT ./. 2 207622096 . C . . NT END=207625624;NT GT ./. 2 207625567 rs1862087 T C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=MDH1B/NM_001039845.2/1;CC=c.135+58A>G;VC=Intron;Gene=MDH1B/NM_001282940.1/0;CC=c.135+58A>G;VC=Intron;Gene=MDH1B/NR_104261.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:16:0:0:10,7:337,219:33.47,0.00:32.08,0.00:1.39,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:33.7,12.1:0,0:0,0:28,47:122,103:20,24:NM_001039845.1(MDH1B) c.135+58A>G,-:0.37,-:NOT_FOUND,- 2 207625738 . C . . NT END=207629973;NT GT ./. 2 207629795 rs16838834 T A 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MDH1B/NM_001039845.2/1;CC=c.22+179A>T;VC=Intron;Gene=MDH1B/NM_001282940.1/0;CC=c.22+179A>T;VC=Intron;Gene=MDH1B/NR_104261.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:A,T:13:13:0:0:9,4:288,129:29.61,0.00:29.61,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:79.3,0.0:0,0:0,0:42,8:108,142:31,3:NM_001039845.1(MDH1B) c.22+179A>T,-:0.37,-:NOT_FOUND,- 2 207629821 rs28365798 T TGCAA 38 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.777;Gene=MDH1B/NM_001039845.2/1;CC=c.22+152_22+153insTTGC;VC=Intron;Gene=MDH1B/NM_001282940.1/0;CC=c.22+152_22+153insTTGC;VC=Intron;Gene=MDH1B/NR_104261.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:T,TGCAA:18:18:12:0:6,12:191,376:0.00,38.35:0.00,36.60:0.00,1.75:0.00,1.00:0.00,1.00:0.00,0.78:60,60:6.3,77.9:0,0:0,0:31,31:116,114:5,15:-,NM_001039845.1(MDH1B) c.22+152_22+153insTTGC:-,0.38:-,NOT_FOUND 2 207629846 rs28365797 A T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=MDH1B/NM_001039845.2/1;CC=c.22+128T>A;VC=Intron;Gene=MDH1B/NM_001282940.1/0;CC=c.22+128T>A;VC=Intron;Gene=MDH1B/NR_104261.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:25:25:0:0:9,16:297,474:0.00,47.84:0.00,44.26:0.00,3.58:0.00,1.00:0.00,1.00:0.00,0.89:60,60:8.1,74.8:0,0:0,0:50,48:98,102:10,19:-,NM_001039845.1(MDH1B) c.22+128T>A:-,0.38:-,NOT_FOUND 2 207629904 rs3828294 G A 88 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=MDH1B/NM_001039845.2/1;CC=c.22+70C>T;VC=Intron;Gene=MDH1B/NM_001282940.1/0;CC=c.22+70C>T;VC=Intron;Gene=MDH1B/NR_104261.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:45:0:0:28,21:895,594:88.37,0.00:64.55,0.00:23.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.9,6.4:0,0:0,0:54,39:95,106:28,22:NM_001039845.1(MDH1B) c.22+70C>T,-:0.52,-:0.384363,- 2 207630214 . A . . NT END=207631417;NT GT ./. 2 207632195 . G . . NT END=207634814;NT GT ./. 2 207634919 . G . . NT END=207635905;NT GT ./. 2 207636015 . G . . NT END=207636617;NT GT ./. 2 207636742 . G . . NT END=207636904;NT GT ./. 2 207637045 . G . . NT END=207638948;NT GT ./. 2 207639122 . G . . NT END=207651456;NT GT ./. 2 207651624 . G . . NT END=207652660;NT GT ./. 2 207652880 . G . . NT END=207653542;NT GT ./. 2 207653455 rs79202392 C CA 15 idl,rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.093;Gene=FASTKD2/NM_001136193.1/0;CC=c.1814-71_1814-70insA;VC=Intron;Gene=FASTKD2/NM_001136194.1/1;CC=c.1814-71_1814-70insA;VC=Intron;Gene=FASTKD2/NM_014929.3/0;CC=c.1814-71_1814-70insA;VC=Intron;DM=FASTKD2/FAST_2;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,CA,D:15:17:7:2:8,5,2:271,234,64:0.00,15.22,5.06:0.00,15.22,5.06:0.00,0.00,0.00:0.00,0.88,0.00:0.00,0.88,0.00:0.00,0.00,0.00:60,60,60:18.6,45.2,0.0:0,2,0:0,0,0:57,63,7:87,88,144:57,24,0:-,NM_001136194.1(FASTKD2) c.1814-88_1814-87insA:-,NOT_FOUND:-,NOT_FOUND 2 207653628 . G . . NT END=207655295;NT GT ./. 2 207653653 rs76270461 G A 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.051;Gene=FASTKD2/NM_001136193.1/0;CC=c.1898+26G>A;VC=Intron;Gene=FASTKD2/NM_001136194.1/1;CC=c.1898+26G>A;VC=Intron;Gene=FASTKD2/NM_014929.3/0;CC=c.1898+26G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:6:0:0:8,7:268,220:26.12,0.00:4.74,0.00:21.37,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:43.2,2.0:0,0:0,0:108,104:42,47:13,17:NM_001136194.1(FASTKD2) c.1898+26G>A,-:0.12,-:0.082667,- 2 207655411 . G . . NT END=207656406;NT GT ./. 2 207656527 . A . . NT END=207804323;NT GT ./. 2 207804392 . G . . NT END=207814340;NT GT ./. 2 207814438 . G . . NT END=207820186;NT GT ./. 2 207814552 rs181733261 A G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=16;PC=0.009;Gene=CPO/NM_173077.2/1;CC=c.165+115A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G:7:0:0:0:4,3:81,95:0.00,8.87:0.00,0.00:0.00,8.87:0.00,0.69:0.00,0.00:0.00,0.69:60,60:17.8,31.7:0,0:0,0:75,87:75,64:10,13:-,NM_173077.2(CPO) c.165+115A>G:-,0.0009:-,NOT_FOUND 2 207820276 rs13420911 G A 117 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CPO/NM_173077.2/1;CC=c.255G>A;ProtCh=p.M85I;VC=Missense;DM=CPO/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:16:0:0:32:1015:116.75:37.37:79.38:1.00:1.00:1.00:60:43.6:0:0:104:30:27:NM_173077.2(CPO) c.255G>A (p.Met85Ile),NM_173077.2(CPO) c.255G>A (p.Met85Ile):0.39,0.39:0.445871,0.445871 2 207820289 . G . . NT END=207823024;NT GT ./. 2 207823130 . G . . NT END=207824354;NT GT ./. 2 207824384 rs11903403 T G 87 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.979;Gene=CPO/NM_173077.2/1;CC=c.402T>G;ProtCh=p.S134R;VC=Missense;DM=CPO/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:20:0:0:23:758:86.77:59.88:26.89:1.00:1.00:1.00:60:39.0:0:0:45:97:20:NM_173077.2(CPO) c.402T>G (p.Ser134Arg),NM_173077.2(CPO) c.402T>G (p.Ser134Arg):0.43,0.43:0.493695,0.493695 2 207824466 . G . . NT END=207825575;NT GT ./. 2 207824548 rs1453168 G A 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=CPO/NM_173077.2/1;CC=c.483+83G>A;VC=Intron;DM=CPO/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:2:0:0:15:498:56.95:7.15:49.80:1.00:1.00:1.00:60:36.4:0:0:96:51:15:NM_173077.2(CPO) c.483+83G>A,NM_173077.2(CPO) c.483+83G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 2 207825656 rs13397039 A T 124 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=CPO/NM_173077.2/1;CC=c.564A>T;ProtCh=p.A188=;VC=Silent;DM=CPO/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:13:0:0:34:1075:123.62:37.68:85.94:1.00:1.00:1.00:60:43.9:0:0:97:48:31:NM_173077.2(CPO) c.564A>T (p.(=)),NM_173077.2(CPO) c.564A>T (p.(=)):0.39,0.39:0.442104,0.442104 2 207825667 . G . . NT END=207827135;NT GT ./. 2 207827339 . G . . NT END=207832986;NT GT ./. 2 207833072 . G . . NT END=207833897;NT GT ./. 2 207833848 rs7582092 A G 147 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=CPO/NM_173077.2/1;CC=c.863-50A>G;VC=Intron;DM=CPO/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:G:43:42:0:0:43:1262:146.64:130.84:15.81:1.00:1.00:1.00:60:43.8:0:0:31:117:24:NM_173077.2(CPO) c.863-50A>G,NM_173077.2(CPO) c.863-50A>G:0.63,0.63:0.699908,0.699908 2 207833983 rs7582305 A G 326 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=NA;Gene=CPO/NM_173077.2/1;CC=c.948A>G;ProtCh=p.T316=;VC=Silent;DM=CPO/Peptidase_M14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:65:0:0:92:2820:325.62:187.65:137.98:1.00:1.00:1.00:60:43.8:0:0:46:100:26:NM_173077.2(CPO) c.948A>G (p.(=)),NM_173077.2(CPO) c.948A>G (p.(=)):0.29,0.29:0.322082,0.322082 2 207834161 . G . . NT END=207945936;NT GT ./. 2 207894882 rs11887948 A T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:4:3:0:0:1,3:35,93:0.00,9.75:0.00,4.23:0.00,5.53:0.00,0.85:0.00,0.99:0.00,0.95:60,60:64.0,35.0:0,0:0,0:99,104:52,46:0,46:-,chr2 g.207894881A>T (intergenic):-,0.31:-,NOT_FOUND 2 207945785 rs59847589 A ATGTG 63 idl,nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.998;Gene=KLF7/NM_001270944.1/0;CC=c.*151_*152insCACA;VC=3UTR;Gene=KLF7/NM_003709.3/0;CC=c.*151_*152insCACA;VC=3UTR;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.*165_*166insCACA;VC=3UTR;Gene=KLF7/NM_001270943.1/0;CC=c.*151_*152insCACA;VC=3UTR;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A,ATGTG:20:22:22:0:2,18:46,687:0.00,63.04:0.00,51.83:0.00,11.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.5,3.4:1,4:0,0:67,58:78,89:54,20:NM_003709.3(KLF7) c.*130CA[13],NM_003709.3(KLF7) c.*130CA[13]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 207945989 . C . . NT END=207953181;NT GT ./. 2 207946141 rs2287507 A G 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=KLF7/NM_001270944.1/0;CC=c.774-153T>C;VC=Intron;Gene=KLF7/NM_003709.3/0;CC=c.858-153T>C;VC=Intron;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.656-153T>C;VC=Intron;Gene=KLF7/NM_001270943.1/0;CC=c.759-153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:285:32.77:0.00:32.77:1.00:0.00:1.00:60:67.3:0:0:75:75:20:NM_003709.3(KLF7) c.858-153T>C,NM_003709.3(KLF7) c.858-153T>C:0.48,0.48:NOT_FOUND,NOT_FOUND 2 207946164 rs2287506 T C 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=KLF7/NM_001270944.1/0;CC=c.774-176A>G;VC=Intron;Gene=KLF7/NM_003709.3/0;CC=c.858-176A>G;VC=Intron;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.656-176A>G;VC=Intron;Gene=KLF7/NM_001270943.1/0;CC=c.759-176A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:0:0:0:9:267:30.95:0.00:30.95:1.00:0.00:1.00:60:67.3:0:0:98:52:20:NM_003709.3(KLF7) c.858-176A>G,NM_003709.3(KLF7) c.858-176A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 2 207953306 . C . . NT END=207988494;NT GT ./. 2 207953530 rs11895945 C T 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.021;Gene=KLF7/NM_001270944.1/0;CC=c.650-225G>A;VC=Intron;Gene=KLF7/NM_003709.3/0;CC=c.734-225G>A;VC=Intron;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.532-225G>A;VC=Intron;Gene=KLF7/NM_001270943.1/0;CC=c.635-225G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:24:T:12:0:0:0:12:293:34.73:0.00:34.73:1.00:0.00:1.00:60:78.4:0:0:95:55:24:NM_003709.3(KLF7) c.734-225G>A,NM_003709.3(KLF7) c.734-225G>A:0.19,0.19:NOT_FOUND,NOT_FOUND 2 207988613 rs2700166 C T 657 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=177;DB;DBA=NA;PAF=NA;Gene=KLF7/NM_001270944.1/0;CC=c.534G>A;ProtCh=p.L178=;VC=Silent;Gene=KLF7/NM_003709.3/0;CC=c.618G>A;ProtCh=p.L206=;VC=Silent;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.531+87G>A;VC=Intron;Gene=KLF7/NM_001270943.1/0;CC=c.519G>A;ProtCh=p.L173=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:177:140:0:0:177:5731:657.09:391.40:265.69:1.00:1.00:1.00:60:40.3:0:0:63:84:36:NM_003709.3(KLF7) c.=,NM_003709.3(KLF7) c.=:0.97,0.97:0.958558,0.958558 2 207988985 rs139952837 G A 119 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=NA;NP=17;PC=0.993;Gene=KLF7/NM_001270944.1/0;CC=c.162C>T;ProtCh=p.L54=;VC=Silent;Gene=KLF7/NM_003709.3/0;CC=c.246C>T;ProtCh=p.L82=;VC=Silent;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.246C>T;ProtCh=p.L82=;VC=Silent;Gene=KLF7/NM_001270943.1/0;CC=c.147C>T;ProtCh=p.L49=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:116:70:0:0:43,73:1315,2377:118.78,0.00:60.06,0.00:58.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,9.2:0,0:0,0:90,70:60,76:29,35:NM_003709.3(KLF7) c.246C>T (p.(=)),-:0.0014,-:0.003614,- 2 207989129 . C . . NT END=207998790;NT GT ./. 2 207998862 . G . . NT END=208013705;NT GT ./. 2 207998878 rs35538720 A ATTT 23 idl,rn VT=INS;SST=Single;DP=67;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;PC=0.805;Gene=KLF7/NM_003709.3/0;CC=c.103-9751_103-9750insAAA;VC=Intron;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.103-9751_103-9750insAAA;VC=Intron;Gene=KLF7/NM_001270943.1/0;CC=c.4-9751_4-9750insAAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,T,ATTT,D:53:35:19:11:36,1,9,7:1035,34,585,348:0.00,1.82,22.90,16.16:0.00,-0.08,12.14,6.14:0.00,1.90,10.76,10.02:0.00,0.00,0.97,0.00:0.00,0.00,0.97,0.00:0.00,0.00,1.00,0.00:60,60,60,60:18.0,58.0,75.2,27.0:0,1,10,4:0,0,0,0:123,32,89,81:13,119,51,54:23,0,16,23:-,NM_003709.3(KLF7) c.103-9751_103-9750insAAA:-,NOT_FOUND:-,NOT_FOUND 2 208013555 rs12466923 C A 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=KLF7/NM_003709.3/0;CC=c.102+16636G>T;VC=Intron;Gene=KLF7/NR_073108.1/0;VC=NonCoding;Gene=KLF7/NM_001270942.1/1;CC=c.102+16636G>T;VC=Intron;Gene=KLF7/NM_001270943.1/0;CC=c.3+18309G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:174:A,C:16:16:0:0:10,6:293,177:29.44,0.00:29.44,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.8,0.0:0,0:0,0:39,36:112,114:21,12:NM_003709.3(KLF7) c.102+16636G>T,-:0.72,-:NOT_FOUND,- 2 208013925 . C . . NT END=208030190;NT GT ./. 2 208030911 . G . . NT END=208031480;NT GT ./. 2 208031471 rs57314858 C T 76 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=KLF7/NM_001270942.1/1;CC=c.-139+10G>A;VC=Intron;Gene=KLF7/NM_001270943.1/0;CC=c.3+393G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:19:0:0:22:654:75.81:50.74:25.07:1.00:1.00:1.00:60:40.8:0:0:32:112:17:NM_003709.3(KLF7) c.-448-u731G>A,NM_003709.3(KLF7) c.-448-u731G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 2 208031581 . G . . NT END=208031863;NT GT ./. 2 208031796 rs2037893 C G 188 nt VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=KLF7/NM_001270943.1/0;CC=c.3+68G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G:52:41:0:0:52:1634:188.18:120.05:68.13:1.00:1.00:1.00:60:34.8:0:0:53:96:33:NM_003709.3(KLF7) c.-448-u1056G>C,NM_003709.3(KLF7) c.-448-u1056G>C:0.67,0.67:NOT_FOUND,NOT_FOUND 2 208031867 . G . . NT END=208420359;NT GT ./. 2 208031992 rs1269424 T A 94 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:6:0:0:27:810:93.84:13.22:80.62:1.00:1.00:1.00:60:35.9:0:0:115:36:23:NM_003709.3(KLF7) c.-448-u1252A>T,NM_003709.3(KLF7) c.-448-u1252A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 208048215 rs57298704 ACT A 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.298;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:ACT,A:4:4:0:4:1,3:35,122:0.00,9.16:0.00,3.31:0.00,5.86:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,13.0:0,1:0,0:117,45:24,97:0,7:-,chr2 g.208048216_208048217delCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 208270938 rs56128302 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=83;PC=0.037 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,G:4:3:0:0:2,2:43,69:0.00,6.67:0.00,5.13:0.00,1.54:0.00,0.51:0.00,0.89:0.00,0.79:60,60:23.0,51.5:0,0:0,0:74,50:62,58:29,27:-,chr2 g.208270937A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 208420474 . G . . NT END=208423911;NT GT ./. 2 208423980 . G . . NT END=208424949;NT GT ./. 2 208425097 . G . . NT END=208425842;NT GT ./. 2 208425885 . G . . NT END=208432186;NT GT ./. 2 208432288 . G . . NT END=208434902;NT GT ./. 2 208434764 . C CA 9 idl,rn VT=INS;SST=Single;DP=14;PC=0.052;Gene=CREB1/NM_004379.3/0;CC=c.363-117_363-116insA;VC=Intron;Gene=CREB1/NM_134442.3/1;CC=c.405-117_405-116insA;VC=Intron;DM=CREB1/pKID;DM=CREB1/pKID;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,CA,D:12:14:4:2:8,3,1:240,132,66:0.00,8.59,2.38:0.00,8.59,2.38:0.00,0.00,0.00:0.00,0.56,0.00:0.00,0.56,0.00:0.00,0.00,0.00:60,60,60:38.1,50.3,33.0:0,1,1:0,0,0:32,77,40:119,68,111:31,24,28:-,NM_134442.3(CREB1) c.405-139_405-138insA:-,NOT_FOUND:-,NOT_FOUND 2 208435046 . G . . NT END=208439995;NT GT ./. 2 208440179 . G . . NT END=208441354;NT GT ./. 2 208441776 rs2551923 C T 71 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CREB1/NM_004379.3/0;CC=c.689-453C>T;VC=Intron;Gene=CREB1/NM_134442.3/1;CC=c.731-453C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:21:0:0:20,23:665,726:0.00,70.64:0.00,35.41:0.00,35.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.0,36.7:0,0:0,0:96,87:54,63:34,36:-,NM_134442.3(CREB1) c.731-453C>T:-,0.11:-,NOT_FOUND 2 208441949 . G . . NT END=208442228;NT GT ./. 2 208442095 rs2709387 G A 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CREB1/NM_004379.3/0;CC=c.689-134G>A;VC=Intron;Gene=CREB1/NM_134442.3/1;CC=c.731-134G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:17:0:0:17,12:520,373:51.56,0.00:19.68,0.00:31.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,23.2:0,0:0,0:85,62:66,88:33,42:NM_134442.3(CREB1) c.731-134G>A,-:0.12,-:NOT_FOUND,- 2 208442380 . G . . NT END=208461637;NT GT ./. 2 208461783 . T . . NT END=208477769;NT GT ./. 2 208477852 rs2551949 G A 106 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;PC=0.999;Gene=METTL21A/NM_001308021.1/1;CC=c.259+8678C>T;VC=Intron;Gene=METTL21A/NM_145280.5/0;CC=c.575C>T;ProtCh=p.T192I;VC=Missense;Gene=METTL21A/NM_001127395.2/0;CC=c.575C>T;ProtCh=p.T192I;VC=Missense;DM=METTL21A/Methyltransf_16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:65:48:0:0:34,1,30:1095,11,918:106.50,-0.02,0.00:52.86,0.04,0.00:53.64,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,50,60:51.8,96.0,2.9:0,0,0:0,0,0:62,9,87:84,101,60:32,0,27:NM_001127395.1(METTL21A) c.575C>T (p.Thr192Ile),-:0.89,-:0.834307,- 2 208477956 rs2709416 C T 114 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.001;Gene=METTL21A/NM_001308021.1/1;CC=c.259+8574G>A;VC=Intron;Gene=METTL21A/NM_145280.5/0;CC=c.471G>A;ProtCh=p.Q157=;VC=Silent;Gene=METTL21A/NM_001127395.2/0;CC=c.471G>A;ProtCh=p.Q157=;VC=Silent;DM=METTL21A/Methyltransf_16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:49:0:0:31,39:1033,1166:0.00,114.27:0.00,71.20:0.00,43.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,62.6:0,0:0,0:49,70:99,81:27,35:-,NM_001127395.1(METTL21A) c.471G>A (p.(=)):-,0.89:-,0.834461 2 208478055 rs17520056 A G 158 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=0.906;Gene=METTL21A/NM_001308021.1/1;CC=c.259+8475T>C;VC=Intron;Gene=METTL21A/NM_145280.5/0;CC=c.372T>C;ProtCh=p.T124=;VC=Silent;Gene=METTL21A/NM_001127395.2/0;CC=c.372T>C;ProtCh=p.T124=;VC=Silent;DM=METTL21A/Methyltransf_16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:93:59:0:0:43,1,49:1419,12,1621:0.00,-0.04,157.87:0.00,0.07,89.87:0.00,-0.11,68.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.2,12.0,51.4:0,0,0:0,0,0:74,103,76:71,44,65:23,0,26:-,NM_001127395.1(METTL21A) c.372T>C (p.(=)):-,0.31:-,0.293941 2 208478168 . C . . NT END=208485331;NT GT ./. 2 208485177 rs71409834 T TAAATA 19 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=235;PC=0.001;Gene=METTL21A/NM_001308021.1/1;CC=c.259+1352_259+1353insTATTT;VC=Intron;Gene=METTL21A/NM_145280.5/0;CC=c.259+1352_259+1353insTATTT;VC=Intron;Gene=METTL21A/NM_001127395.2/0;CC=c.259+1352_259+1353insTATTT;VC=Intron;DM=METTL21A/Methyltransf_16;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:T,TAAATA:12:12:6:0:6,6:174,193:0.00,18.56:0.00,18.56:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:18.8,7.3:0,0:0,0:103,26:47,125:24,14:-,NM_001127395.1(METTL21A) c.259+1352_259+1353insTATTT:-,NOT_FOUND:-,NOT_FOUND 2 208485419 . C . . NT END=208486529;NT GT ./. 2 208486642 . C . . NT END=208488952;NT GT ./. 2 208489100 . T . . NT END=208576620;NT GT ./. 2 208546153 rs6744927 T G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:G,T:10:10:0:0:5,5:145,72:13.94,0.00:13.94,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:56.6,33.6:0,0:0,0:30,65:120,81:18,14:chr2 g.208546152T>G (intergenic),-:0.42,-:NOT_FOUND,- 2 208546212 rs113301211 G C 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.966 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,G:17:17:0:0:10,7:255,157:25.26,0.00:25.26,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:67.5,21.1:0,0:0,0:46,97:105,54:33,41:chr2 g.208546211G>C (intergenic),-:0.41,-:NOT_FOUND,- 2 208546305 rs115988674 A G 103 nt VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.763 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:43:0:0:15,32:454,1004:0.00,102.89:0.00,88.54:0.00,14.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,62.5:0,0:0,0:49,52:100,93:23,30:-,chr2 g.208546304A>G (intergenic):-,0.44:-,NOT_FOUND 2 208546390 rs78192213 A C 157 nt VT=SNV;PN=C;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:86:67:0:0:36,50:1130,1582:0.00,156.71:0.00,92.88:0.00,63.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,49.6:0,0:0,0:50,60:98,86:24,29:-,chr2 g.208546389A>C (intergenic):-,0.45:-,NOT_FOUND 2 208546867 rs2010240 C A 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:2:0:0:16,10:513,258:51.48,0.00:1.68,0.00:49.81,0.00:1.00,0.00:0.88,0.00:1.00,0.00:60,60:94.8,17.5:0,0:0,0:103,97:48,53:28,33:chr2 g.208546866C>A (intergenic),-:0.54,-:NOT_FOUND,- 2 208546877 rs2551916 T G 52 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:25:1:0:0:1,16,8:32,513,259:2.14,52.28,0.00:-0.01,-0.22,0.00:2.15,52.50,0.00:0.00,1.00,0.00:0.00,0.76,0.00:0.00,1.00,0.00:60,60,60:98.0,100.2,9.5:0,0,0:0,0,0:141,110,104:10,40,47:0,22,36:chr2 g.208546876T>G (intergenic),-:0.44,-:NOT_FOUND,- 2 208546880 rs2663863 C T 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:1:0:0:8,17:219,529:0.00,54.23:0.00,-0.25:0.00,54.47:0.00,1.00:0.00,0.79:0.00,1.00:60,60:9.5,100.1:0,0:0,0:107,114:44,37:29,26:-,chr2 g.208546879C>T (intergenic):-,0.42:-,NOT_FOUND 2 208576841 . G . . NT END=208589523;NT GT ./. 2 208589599 . G . . NT END=208591565;NT GT ./. 2 208591601 . G . . NT END=208598670;NT GT ./. 2 208598772 . G . . NT END=208602134;NT GT ./. 2 208602171 . G . . NT END=208605378;NT GT ./. 2 208605431 . G . . NT END=208606946;NT GT ./. 2 208606875 rs561667851 CA C 15 idl,rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=42;PC=0.753;Gene=CCNYL1/NM_001142300.1/0;CC=c.367-55delA;VC=Intron;Gene=CCNYL1/NM_152523.2/1;CC=c.310-55delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,CA,I,C:26:26:4:9:1,16,3,6:8,539,123,248:-0.06,0.00,7.42,15.45:-0.23,0.00,7.46,11.66:0.16,0.00,-0.05,3.79:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.73:60,60,60,70:37.0,10.9,103.7,36.5:0,0,1,2:0,0,0,0:66,81,42,9:85,59,95,137:0,31,16,8:-,NM_001142300.1(CCNYL1) c.367-71delA:-,NOT_FOUND:-,NOT_FOUND 2 208607067 . G . . NT END=208611770;NT GT ./. 2 208611699 . CA C 20 idl,rn VT=DEL;SST=Single;DP=33;NP=81;PC=0.006;Gene=CCNYL1/NM_001142300.1/0;CC=c.487-57delA;VC=Intron;Gene=CCNYL1/NM_152523.2/1;CC=c.430-57delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:CA,I,C:32:30:4:11:20,4,8:621,122,269:0.00,9.33,20.49:0.00,9.47,16.97:0.00,-0.14,3.52:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.79:60,60,60:20.1,22.2,2.4:0,0,1:0,0,0:72,36,50:79,115,101:36,27,13:-,NM_001142300.1(CCNYL1) c.487-71delA:-,NOT_FOUND:-,NOT_FOUND 2 208611938 . G . . NT END=208615680;NT GT ./. 2 208615844 . G . . NT END=208618311;NT GT ./. 2 208618423 . A . . NT END=208631705;NT GT ./. 2 208633413 rs4675711 T C 568 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=153;DB;DBA=NA;PAF=NA;PC=0.376;Gene=FZD5/NM_003468.3/1;CC=c.51A>G;ProtCh=p.L17=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:153:90:0:0:152,1:4980,36:567.66,0.00:225.82,0.00:341.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,0.0:0,0:0,0:79,66:69,78:30,0:NM_003468.3(FZD5) c.51A>G (p.(=)),NM_003468.3(FZD5) c.51A>G (p.(=)):0.99,0.99:0.991487,0.991487 2 208633464 . C . . NT END=208693042;NT GT ./. 2 208693221 . C . . NT END=208725828;NT GT ./. 2 208693261 rs720632 C G 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PLEKHM3/NM_001080475.2/1;CC=c.2109-41G>C;VC=Intron;DM=PLEKHM3/zf-RING_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:56:26:0:0:1,29,26:11,927,857:-0.02,0.00,81.58:-0.09,0.00,17.72:0.07,0.00,63.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:140.0,3.1,67.2:0,0,0:0,0,0:17,110,75:133,40,69:0,22,28:-,NM_001080475.2(PLEKHM3) c.2109-41G>C:-,0.61:-,0.691047 2 208693307 rs720631 T C 65 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=PLEKHM3/NM_001080475.2/1;CC=c.2109-87A>G;VC=Intron;DM=PLEKHM3/zf-RING_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:11:0:0:22,16:658,468:65.01,0.00:9.57,0.00:55.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.1,13.8:0,0:0,0:100,115:49,30:24,14:NM_001080475.2(PLEKHM3) c.2109-87A>G,-:0.62,-:NOT_FOUND,- 2 208725987 . C . . NT END=208773237;NT GT ./. 2 208773302 . C . . NT END=208795649;NT GT ./. 2 208795480 rs555902412 A C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=5;PC=0.006;Gene=PLEKHM3/NM_001080475.2/1;CC=c.1886+170T>G;VC=Intron;DM=PLEKHM3/zf-RING_9;DM=PLEKHM3/zf-RING_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:17:17:0:0:7,9,1:229,241,9:0.00,23.55,0.15:0.00,23.55,0.15:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:5.9,38.7,52.0:0,0,0:0,0,0:54,42,118:97,108,33:38,27,0:-,NM_001080475.2(PLEKHM3) c.1886+170T>G:-,NOT_FOUND:-,NOT_FOUND 2 208795844 . C . . NT END=208811090;NT GT ./. 2 208796078 rs1871671 C T 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=PLEKHM3/NM_001080475.2/1;CC=c.1693-235G>A;VC=Intron;DM=PLEKHM3/zf-RING_9;DM=PLEKHM3/zf-RING_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:0:0:0:13:366:42.78:0.00:42.78:1.00:0.00:1.00:60:53.6:0:0:118:33:32:NM_001080475.2(PLEKHM3) c.1693-235G>A,NM_001080475.2(PLEKHM3) c.1693-235G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 2 208811097 rs10932215 C T 215 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.963;Gene=PLEKHM3/NM_001080475.2/1;CC=c.1686G>A;ProtCh=p.K562=;VC=Silent;DM=PLEKHM3/zf-RING_9;DM=PLEKHM3/zf-RING_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:T:58:49:0:0:58:1875:215.15:151.19:63.96:1.00:1.00:1.00:60:35.9:0:0:69:79:39:NM_001080475.2(PLEKHM3) c.1686G>A (p.(=)),NM_001080475.2(PLEKHM3) c.1686G>A (p.(=)):0.56,0.56:0.648253,0.648253 2 208811237 . C . . NT END=208841374;NT GT ./. 2 208811284 rs10932216 C T 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=PLEKHM3/NM_001080475.2/1;CC=c.1547-48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:10:0:0:26,19:875,604:0.00,56.17:0.00,7.68:0.00,48.48:0.00,1.00:0.00,0.99:0.00,1.00:60,60:2.3,40.6:0,0:0,0:116,117:30,27:25,17:-,NM_001080475.2(PLEKHM3) c.1547-48G>A:-,0.19:-,0.19783 2 208841964 rs4441448 A G 162 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.070;Gene=PLEKHM3/NM_001080475.2/1;CC=c.957T>C;ProtCh=p.N319=;VC=Silent;DM=PLEKHM3/zf-RING_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:114:71:0:0:58,56:1894,1700:0.00,162.23:0.00,86.13:0.00,76.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,42.5:0,0:0,0:74,64:77,87:37,30:-,NM_001080475.2(PLEKHM3) c.957T>C (p.(=)):-,0.62:-,0.679853 2 208842311 . C . . NT END=208865753;NT GT ./. 2 208842394 rs2044971 A G 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.004;Gene=PLEKHM3/NM_001080475.2/1;CC=c.611-84T>C;VC=Intron;DM=PLEKHM3/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:0:0:0:9,13:317,412:0.00,40.94:0.00,0.00:0.00,40.94:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.8,34.9:0,0:0,0:102,113:48,36:35,27:-,NM_001080475.2(PLEKHM3) c.611-84T>C:-,0.6:-,NOT_FOUND 2 208865712 rs116411863 G GA 11 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=1;PC=0.020;Gene=PLEKHM3/NM_001080475.2/1;CC=c.610+41_610+42insT;VC=Intron;DM=PLEKHM3/PH;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,G,GA,D:40:38:5:5:2,29,5,4:34,971,148,156:1.30,0.00,10.99,8.78:-0.59,0.00,11.10,7.10:1.89,0.00,-0.11,1.68:0.00,0.00,0.76,0.00:0.00,0.00,0.97,0.00:0.00,0.00,0.56,0.00:60,60,60,60:25.0,8.5,37.2,12.5:0,0,0,1:0,0,0,0:11,51,56,40:134,91,92,111:1,22,32,30:-,NM_001080475.2(PLEKHM3) c.610+41_610+42insT:-,NOT_FOUND:-,NOT_FOUND 2 208866364 . G . . NT END=208986396;NT GT ./. 2 208881394 rs370576889 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;NP=3;NP=4;Gene=PLEKHM3/NM_001080475.2/1;CC=c.-319+8719A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T,D:5:3:0:1:3,1,1:102,32,3:10.57,0.00,0.05:5.43,0.00,0.15:5.13,0.00,-0.10:0.78,0.00,0.00:0.94,0.00,0.00:0.94,0.00,0.00:60,60,3:66.0,13.0,0.0:0,0,0:0,0,0:37,144,6:111,7,145:29,0,0:NM_001080475.2(PLEKHM3) c.-319+8719A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 208922234 rs6718487 G T 45 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:31:0:0:24,16:765,488:0.00,44.75:0.00,28.01:0.00,16.74:0.00,1.00:0.00,1.00:0.00,0.99:60,60:9.4,35.5:0,0:0,0:70,46:70,104:18,25:-,chr2 g.208922233G>T (intergenic):-,0.32:-,NOT_FOUND 2 208976843 rs10200650 C T 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:11,12:337,391:0.00,37.91:0.00,37.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:54.5,66.5:0,0:0,0:40,56:111,94:16,31:-,NR_038437.1(LOC100507443) n.-7010C>T:-,0.39:-,NOT_FOUND 2 208976867 rs7577499 A G 148 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:G:40:40:0:0:40:1287:147.72:147.72:0.00:1.00:1.00:0.00:60:81.5:0:0:33:118:28:NR_038437.1(LOC100507443) n.-6986A>G,NR_038437.1(LOC100507443) n.-6986A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 208976955 rs10932241 A C 128 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:87:83:0:0:45,42:1350,1345:0.00,128.34:0.00,118.37:0.00,9.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.3,139.3:0,0:0,0:39,62:106,88:31,28:-,NR_038437.1(LOC100507443) n.-6898A>C:-,0.42:-,NOT_FOUND 2 208976969 rs11899959 C A 132 nt VT=SNV;PN=G;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=NA;NP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:90:86:0:0:43,47:1381,1436:131.59,0.00:124.03,0.00:7.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:138.4,22.4:0,1:0,0:68,59:83,91:36,30:NR_038437.1(LOC100507443) n.-6884C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 208976972 rs71350713 G C 136 nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;NP=23;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,I:93:89:1:0:46,46,1:1414,1400,11:135.61,0.00,-0.08:124.74,0.00,-0.03:10.87,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:137.9,15.4,86.0:0,0,0:0,0,0:70,51,101:80,94,50:36,26,0:NR_038437.1(LOC100507443) n.-6881G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 208976975 rs11884219 T C 153 nt VT=SNV;PN=G;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,D:96:91:0:1:48,47,1:1585,1412,12:152.81,0.00,-0.05:141.36,0.00,0.00:11.45,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:133.4,13.5,86.0:0,0,1:0,0,0:71,47,106:79,96,45:38,24,0:NR_038437.1(LOC100507443) n.-6878T>C,-:0.42,-:NOT_FOUND,- 2 208977135 rs35960349 A G 391 nt VT=SNV;PN=C;NN=C;SST=Single;DP=227;DB;DBA=NA;PAF=NA;PC=0.549 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:227:150:0:0:103,123,1:3288,3999,11:0.00,390.76,-0.12:0.00,163.79,-0.10:0.00,226.98,-0.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,52:5.0,42.2,182.0:0,0,0:0,0,0:71,65,142:75,79,9:29,30,0:-,NR_038437.1(LOC100507443) n.-6718A>G:-,0.22:-,NOT_FOUND 2 208977323 rs11679871 A G 130 nt VT=SNV;PN=C;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:117:51:0:0:75,42:2276,1427:0.00,129.61:0.00,34.79:0.00,94.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.9,86.8:0,0:0,0:97,82:54,69:35,39:-,NR_038437.1(LOC100507443) n.-6530A>G:-,0.71:-,NOT_FOUND 2 208977362 rs34126491 C A 89 nt VT=SNV;PN=A;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:86:38:0:0:31,55:990,1705:89.36,0.00:16.27,0.00:73.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:112.7,32.7:0,0:0,0:103,91:48,50:26,29:NR_038437.1(LOC100507443) n.-6491C>A,-:0.26,-:NOT_FOUND,- 2 208977388 rs11679917 A G 270 nt VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:78:29:0:0:1,77:6,2336:0.04,269.73:0.00,65.73:0.04,204.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:87.0,70.7:0,0:0,0:20,104:131,41:0,30:NR_038437.1(LOC100507443) n.-6465A>G,NR_038437.1(LOC100507443) n.-6465A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 208977402 rs55999272 A G 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:23:0:0:37,22:1150,738:0.00,67.39:0.00,12.79:0.00,54.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.7,124.1:0,0:0,0:105,101:31,46:19,31:-,NR_038437.1(LOC100507443) n.-6451A>G:-,0.28:-,NOT_FOUND 2 208977514 rs11679982 A G,T 22 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:G,T:8:0:0:0:1,7:22,187:1.78,21.61:0.00,0.00:1.78,21.61:0.00,1.00:0.00,0.00:0.00,1.00:60,60:203.0,105.9:0,0:0,0:133,145:-17,6:0,3:NR_038437.1(LOC100507443) n.-6339A>G,NR_038437.1(LOC100507443) n.-6339A>T:NOT_FOUND,0.88:NOT_FOUND,NOT_FOUND 2 208986385 rs2305429 A G 528 nt VT=SNV;PN=A;NN=G;SST=Single;DP=140;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGD/NM_006891.3/1;CC=c.*12T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:140:126:0:0:140:4617:528.37:383.77:144.60:1.00:1.00:1.00:60:39.9:0:0:41:103:27:NM_006891.3(CRYGD) c.*12T>C,NM_006891.3(CRYGD) c.*12T>C:0.83,0.83:0.937183,0.937183 2 208986637 rs2305430 T C 443 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=128;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGD/NM_006891.3/1;CC=c.285A>G;ProtCh=p.R95=;VC=Silent;DM=CRYGD/Crystall GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:128:75:0:0:128:3825:442.96:189.40:253.56:1.00:1.00:1.00:60:37.4:0:0:79:65:39:NM_006891.3(CRYGD) c.285A>G (p.(=)),NM_006891.3(CRYGD) c.285A>G (p.(=)):0.79,0.79:0.892434,0.892434 2 208986670 . C . . NT END=208988835;NT GT ./. 2 208986839 rs1470826 A G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGD/NM_006891.3/1;CC=c.253-170T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:0:0:0:11,16:379,519:0.00,51.61:0.00,0.00:0.00,51.61:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.5,35.7:0,0:0,0:118,101:33,49:17,27:-,NM_006891.3(CRYGD) c.253-170T>C:-,0.35:-,NOT_FOUND 2 208986935 rs6746206 A G 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGD/NM_006891.3/1;CC=c.253-266T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:11:0:0:0:7,4:214,130:0.00,11.78:0.00,0.00:0.00,11.78:0.00,0.98:0.00,0.00:0.00,0.98:60,60:34.7,32.5:0,0:0,0:117,106:33,44:23,22:-,NM_006891.3(CRYGD) c.253-266T>C:-,0.38:-,NOT_FOUND 2 208989037 rs2242074 A G 503 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=326;DB;DBA=NA;PAF=NA;PC=0.989;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGD/NM_006891.3/1;CC=c.51T>C;ProtCh=p.Y17=;VC=Silent;DM=CRYGD/Crystall GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:326:227:0:0:158,2,166:5077,21,5215:0.00,-0.27,502.89:0.00,-0.22,231.91:0.00,-0.05,270.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.9,190.0,44.4:0,0,0:0,0,0:85,59,77:61,80,71:33,20,32:-,NM_006891.3(CRYGD) c.51T>C (p.(=)):-,0.59:-,0.574426 2 208989079 . C . . NT END=208989188;NT GT ./. 2 208989198 . G . . NT END=208992926;NT GT ./. 2 208993200 . C . . NT END=208994164;NT GT ./. 2 208993830 rs3820906 A G 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGC/NM_020989.3/1;CC=c.252+335T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:A,G:5:5:0:0:1,4:17,122:0.00,13.03:0.00,13.03:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:28.0,80.8:0,0:0,0:3,50:148,100:0,21:-,NM_020989.3(CRYGC) c.252+335T>C:-,0.24:-,NOT_FOUND 2 208994045 rs2242073 T G 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGC/NM_020989.3/1;CC=c.252+120A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:37:37:0:0:14,23:425,716:38.52,0.00:36.69,0.00:1.83,0.00:1.00,0.00:1.00,0.00:0.59,0.00:60,60:42.9,4.3:0,0:0,0:54,34:96,117:20,21:NM_020989.3(CRYGC) c.252+120A>C,-:0.17,-:NOT_FOUND,- 2 208994408 . C . . NT END=208994507;NT GT ./. 2 208994517 . G . . NT END=209007361;NT GT ./. 2 208994697 rs2242071 C T 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.093;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:0:0:0:13,14:403,466:0.00,45.16:0.00,0.00:0.00,45.16:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.7,34.1:0,0:0,0:118,108:31,42:29,33:-,NR_038437.1(LOC100507443) n.98-7083C>T:-,0.66:-,NOT_FOUND 2 209007559 rs796287 T G 158 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=NA;PC=0.005;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGB/NM_005210.3/1;CC=c.331A>C;ProtCh=p.I111L;VC=Missense;DM=CRYGB/Crystall GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:107:62:0:0:49,58:1665,1817:157.85,0.00:69.86,0.00:87.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,8.9:0,0:0,0:88,95:59,55:34,41:NM_005210.3(CRYGB) c.331A>C (p.Ile111Leu),-:0.63,-:0.715977,- 2 209007638 . C . . NT END=209010497;NT GT ./. 2 209007786 rs1124651 A G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.002;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGB/NM_005210.3/1;CC=c.253-149T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:0:0:0:19,10:633,287:0.00,25.34:0.00,0.00:0.00,25.34:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.1,52.0:0,0:0,0:98,79:53,63:28,11:-,NM_005210.3(CRYGB) c.253-149T>C:-,0.34:-,NOT_FOUND 2 209010144 rs57005437 G A 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.020;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGB/NM_005210.3/1;CC=c.252+354C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:7:7:0:0:4,3:133,79:13.15,0.00:13.15,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:36.5,31.0:0,0:0,0:56,7:95,144:17,4:NM_005210.3(CRYGB) c.252+354C>T,-:0.33,-:NOT_FOUND,- 2 209010269 rs796282 T C 69 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGB/NM_005210.3/1;CC=c.252+229A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C,G:21:21:0:0:20,1:600,5:69.05,0.10:69.05,0.10:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.4,33.0:0,0:0,0:36,47:114,104:15,0:NM_005210.3(CRYGB) c.252+229A>G,NM_005210.3(CRYGB) c.252+229A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 209010412 rs554918356 CA C 73 idl,rn VT=DEL;SST=Single;DP=102;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGB/NM_005210.3/1;CC=c.252+85delT;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:90:101:11:38:55,9,26:1728,360,1140:0.00,22.11,72.96:0.00,22.16,70.27:0.00,-0.06,2.69:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.70:60,60,70:42.3,26.1,39.0:0,2,10:0,0,0:45,33,44:99,118,105:39,15,39:-,NM_005210.3(CRYGB) c.252+85delT:-,NOT_FOUND:-,NOT_FOUND 2 209010558 rs2854723 A G 434 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=308;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding;Gene=CRYGB/NM_005210.3/1;CC=c.192T>C;ProtCh=p.P64=;VC=Silent;DM=CRYGB/Crystall GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:308:222:0:0:159,148,1:5341,4562,11:0.00,434.28,-0.17:0.00,191.97,-0.07:0.00,242.31,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:70,60,60:6.3,36.7,57.0:0,0,0:0,0,0:80,79,59:65,69,92:33,36,0:-,NM_005210.3(CRYGB) c.192T>C (p.(=)):-,0.39:-,0.500769 2 209010741 . C . . NT END=209010835;NT GT ./. 2 209010845 . T . . NT END=209025527;NT GT ./. 2 209010891 rs2289917 G A 69 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.343;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:14:0:0:23,30:741,958:69.30,0.00:14.70,0.00:54.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,2.8:0,0:0,0:97,103:54,47:30,31:NR_038437.1(LOC100507443) n.221+8988G>A,-:0.23,-:0.3177,- 2 209011014 rs6750890 G T 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=LOC100507443/NR_038437.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:15:0:0:0:7,8:225,243:0.00,23.58:0.00,0.00:0.00,23.58:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.9,44.4:0,0:0,0:111,105:39,45:14,24:-,NR_038437.1(LOC100507443) n.221+9111G>T:-,0.1:-,NOT_FOUND 2 209025226 rs2441350 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:143:16.21:16.21:0.00:1.00:1.00:0.00:60:38.0:0:0:48:101:6:chr2 g.209025225C>T (intergenic),chr2 g.209025225C>T (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 2 209025801 . C . . NT END=209027927;NT GT ./. 2 209025923 rs2441351 G T 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.033;Gene=CRYGA/NM_014617.3/1;CC=c.253-123C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:4:0:0:16,14:547,454:0.00,43.08:0.00,3.22:0.00,39.85:0.00,1.00:0.00,0.92:0.00,1.00:60,60:3.9,39.6:0,0:0,0:85,105:65,46:49,25:-,NM_014617.3(CRYGA) c.253-123C>A:-,0.37:-,NOT_FOUND 2 209026022 rs111279488 A C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.792;Gene=CRYGA/NM_014617.3/1;CC=c.253-222T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:A,C:10:0:0:0:6,4:189,142:0.00,13.19:0.00,0.00:0.00,13.19:0.00,0.84:0.00,0.00:0.00,0.84:60,60:2.2,52.2:0,0:0,0:106,95:44,55:1,19:-,NM_014617.3(CRYGA) c.253-222T>G:-,0.11:-,NOT_FOUND 2 209027776 rs541244627 CT C 18 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=26;Gene=CRYGA/NM_014617.3/1;CC=c.252+151delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:CT,C:13:14:0:7:7,6:221,208:0.00,17.65:0.00,17.65:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:20.0,21.7:0,1:0,0:87,28:64,123:42,17:-,NM_014617.3(CRYGA) c.252+151delA:-,NOT_FOUND:-,NOT_FOUND 2 209028191 rs796280 C T 210 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=149;DB;DBA=NA;PAF=NA;Gene=CRYGA/NM_014617.3/1;CC=c.10-21G>A;VC=Intron;DM=CRYGA/Crystall GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:149:96:0:0:76,1,72:2481,11,2203:0.00,-0.14,210.05:0.00,-0.01,101.93:0.00,-0.12,108.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.7,59.0,39.6:0,0,0:0,0,0:86,25,90:62,126,60:36,0,40:-,NM_014617.3(CRYGA) c.10-21G>A:-,0.32:-,0.173074 2 209028281 . G . . NT END=209030462;NT GT ./. 2 209030330 rs397755731 G GT 17 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=663;Gene=C2orf80/NM_001099334.2/1;CC=c.*200dupA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:G,GT:7:7:5:0:2,5:48,162:0.00,16.78:0.00,16.78:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,27.2:0,0:0,0:97,67:54,82:48,1:-,NM_001099334.2(C2orf80) c.*200dupA:-,NOT_FOUND:-,NOT_FOUND 2 209030540 . C . . NT END=209035668;NT GT ./. 2 209030572 rs6721025 A G 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.001;Gene=C2orf80/NM_001099334.2/1;CC=c.574-33T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:19:0:0:17,18:538,609:0.00,58.96:0.00,18.65:0.00,40.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.2,36.2:0,0:0,0:117,98:33,52:14,26:-,NM_001099334.2(C2orf80) c.574-33T>C:-,0.55:-,0.671383 2 209030578 rs796281 A G 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=C2orf80/NM_001099334.2/1;CC=c.574-39T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:16:0:0:17,15:559,510:0.00,48.55:0.00,17.89:0.00,30.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.2,43.9:0,0:0,0:90,123:60,27:29,14:-,NM_001099334.2(C2orf80) c.574-39T>C:-,0.32:-,0.18789 2 209033923 rs2166447 G A 15 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=C2orf80/NM_001099334.2/1;CC=c.573+1746C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:13.12:1.99:1.00:1.00:1.00:60:69.2:0:0:44:95:24:NM_001099334.2(C2orf80) c.573+1746C>T,NM_001099334.2(C2orf80) c.573+1746C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 209033944 rs2166448 G A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=C2orf80/NM_001099334.2/1;CC=c.573+1725C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:200:22.86:15.26:7.60:1.00:1.00:1.00:60:63.0:0:0:57:74:24:NM_001099334.2(C2orf80) c.573+1725C>T,NM_001099334.2(C2orf80) c.573+1725C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 2 209033959 rs5838108 TTG T 23 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.002;Gene=C2orf80/NM_001099334.2/1;CC=c.573+1708_573+1709delCA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:6:6:197:22.56:13.22:9.34:1.00:1.00:1.00:60:49.8:0:0:36:83:17:NM_001099334.2(C2orf80) c.573+1708_573+1709delCA,NM_001099334.2(C2orf80) c.573+1708_573+1709delCA:0.88,0.88:NOT_FOUND,NOT_FOUND 2 209035658 rs6748431 C T 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=3450;Gene=C2orf80/NM_001099334.2/1;CC=c.573+11G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G,T:32:30:0:0:1,31:12,995:0.37,113.82:0.37,90.74:0.00,23.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:184.0,38.1:0,0:0,0:134,45:17,99:0,29:NM_001099334.2(C2orf80) c.573+11G>A,NM_001099334.2(C2orf80) c.573+11G>A:0.98,0.98:0.983744,0.983744 2 209035788 . C . . NT END=209036711;NT GT ./. 2 209035849 rs4292037 A C 107 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=C2orf80/NM_001099334.2/1;CC=c.455-62T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:6:0:0:28:940:107.35:16.95:90.41:1.00:1.00:1.00:60:44.1:0:0:119:30:24:NM_001099334.2(C2orf80) c.455-62T>G,NM_001099334.2(C2orf80) c.455-62T>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 209036457 rs78999567 G GCCACTCCAT 17 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;PC=0.003;Gene=C2orf80/NM_001099334.2/1;CC=c.454+254_454+255insATGGAGTGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GCCACTCCAT:5:5:5:0:5:151:17.48:17.48:0.00:1.00:1.00:0.00:60:29.8:0:0:78:73:4:NM_001099334.2(C2orf80) c.454+254_454+255insATGGAGTGG,NM_001099334.2(C2orf80) c.454+254_454+255insATGGAGTGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 209036605 rs10932244 T C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.010;Gene=C2orf80/NM_001099334.2/1;CC=c.454+107A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:11:0:0:12:384:44.12:40.74:3.38:1.00:1.00:1.00:60:72.4:0:0:31:119:23:NM_001099334.2(C2orf80) c.454+107A>G,NM_001099334.2(C2orf80) c.454+107A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 209036712 rs10804166 T C 119 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=1.000;Gene=C2orf80/NM_001099334.2/1;CC=c.454A>G;ProtCh=p.S152G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:28:0:0:34:1028:118.92:70.31:48.60:1.00:1.00:1.00:60:63.7:0:0:26:123:14:NM_001099334.2(C2orf80) c.454A>G (p.Ser152Gly),NM_001099334.2(C2orf80) c.454A>G (p.Ser152Gly):0.87,0.87:0.890125,0.890125 2 209036778 rs6435421 A G 172 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.069;Gene=C2orf80/NM_001099334.2/1;CC=c.388T>C;ProtCh=p.C130R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:32:0:0:48:1493:172.13:78.38:93.75:1.00:1.00:1.00:60:53.4:0:0:72:65:20:NM_001099334.2(C2orf80) c.=,NM_001099334.2(C2orf80) c.=:0.98,0.98:0.983535,0.983535 2 209036800 . C . . NT END=209045468;NT GT ./. 2 209037005 rs7564942 T C 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=C2orf80/NM_001099334.2/1;CC=c.367-206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:204:23.73:0.00:23.73:1.00:0.00:1.00:60:42.6:0:0:117:34:25:NM_001099334.2(C2orf80) c.367-206A>G,NM_001099334.2(C2orf80) c.367-206A>G:0.87,0.87:NOT_FOUND,NOT_FOUND 2 209045541 . C . . NT END=209045941;NT GT ./. 2 209045657 rs10208685 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=C2orf80/NM_001099334.2/1;CC=c.295-117A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:2:0:0:8,10:275,295:25.96,0.00:3.27,0.00:22.69,0.00:0.99,0.00:0.74,0.00:1.00,0.00:60,60:35.2,11.4:0,0:0,0:112,64:36,85:20,22:NM_001099334.2(C2orf80) c.295-117A>G,-:0.54,-:NOT_FOUND,- 2 209045839 rs56342568 T C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.862;Gene=C2orf80/NM_001099334.2/1;CC=c.294+103A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:9:8:0:0:6,3:180,96:18.34,0.00:18.81,0.00:-0.48,0.00:0.99,0.00:1.00,0.00:0.78,0.00:60,60:58.0,15.3:0,0:0,0:32,54:113,97:16,34:NM_001099334.2(C2orf80) c.294+103A>G,-:0.41,-:NOT_FOUND,- 2 209046030 . C . . NT END=209047688;NT GT ./. 2 209047772 . C . . NT END=209049674;NT GT ./. 2 209047927 rs71036988 A ATT 12 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2;PC=0.026;Gene=C2orf80/NM_001099334.2/1;CC=c.124-158_124-157dupAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:A,T,ATT,D:12:0:5:1:6,1,4,1:170,13,168,34:0.00,0.52,12.31,2.56:0.00,0.00,0.00,0.00:0.00,0.52,12.31,2.56:0.00,0.00,0.79,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.79,0.00:60,60,60,60:15.8,49.0,8.8,0.0:0,0,1,0:0,0,0,0:102,98,98,73:47,53,53,76:22,0,11,0:-,NM_001099334.2(C2orf80) c.124-157_124-156insAA:-,NOT_FOUND:-,NOT_FOUND 2 209049757 . C . . NT END=209051669;NT GT ./. 2 209049829 rs144966371 T TC 25 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=232;Gene=C2orf80/NM_001099334.2/1;CC=c.42-74_42-73insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TC:26:7:9:0:1,16,9:10,511,280:0.03,0.00,25.19:-0.05,0.00,6.34:0.08,0.00,18.86:0.00,0.00,0.99:0.00,0.00,0.93:0.00,0.00,1.00:60,60,70:86.0,43.2,36.9:0,0,0:0,0,0:27,123,86:124,20,65:0,21,41:-,NM_001099334.2(C2orf80) c.42-74_42-73insG:-,0.09:-,NOT_FOUND 2 209049830 rs536100619 T C 26 sb;idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=27;NP=313;NP=36;PC=0.002;Gene=C2orf80/NM_001099334.2/1;CC=c.42-74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:6:0:0:10,15:288,458:26.23,0.00:0.49,0.00:25.75,0.00:1.00,0.00:0.94,0.00:1.00,0.00:70,60:42.7,45.5:8,1:0,0:76,117:75,20:40,24:NM_001099334.2(C2orf80) c.42-74A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 209049840 rs10804167 C T 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.047;Gene=C2orf80/NM_001099334.2/1;CC=c.42-84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:4:0:0:11,12:312,328:0.00,31.55:0.00,4.71:0.00,26.85:0.00,1.00:0.00,0.95:0.00,1.00:70,60:38.0,36.2:0,0:0,0:74,93:77,56:37,47:-,NM_001099334.2(C2orf80) c.42-84G>A:-,0.71:-,NOT_FOUND 2 209051586 rs7572263 A G 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=C2orf80/NM_001099334.2/1;CC=c.41+84T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:22:0:0:13,10:418,319:0.00,29.83:0.00,22.52:0.00,7.31:0.00,1.00:0.00,1.00:0.00,0.90:60,60:7.2,39.9:0,0:0,0:66,44:84,107:35,32:-,NM_001099334.2(C2orf80) c.41+84T>C:-,0.2:-,NOT_FOUND 2 209051711 . G . . NT END=209101802;NT GT ./. 2 209078373 rs375744502 C CAG 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,G,CAG:6:4:3:0:2,1,3:59,36,102:0.00,3.14,10.13:0.00,1.57,3.33:0.00,1.57,6.80:0.00,0.00,0.73:0.00,0.00,0.51:0.00,0.00,0.96:60,60,60:20.0,36.0,20.3:0,0,0:0,0,0:146,25,103:3,126,42:2,0,13:-,chr2 g.209078373_209078374insAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 209101894 . C . . NT END=209103794;NT GT ./. 2 209101905 rs57383668 GA G 70 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=2974;Gene=IDH1/NM_001282387.1/0;CC=c.1155-13delT;VC=Intron;Gene=IDH1/NM_001282386.1/0;CC=c.1155-13delT;VC=Intron;Gene=IDH1/NM_005896.3/1;CC=c.1155-13delT;VC=Intron;DM=IDH1/Iso_dh;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:GA,G:25:12:0:21:4,21:126,647:0.00,69.94:0.00,26.01:0.00,43.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,10.4:0,0:0,0:148,80:2,64:1,24:-,NM_005896.2(IDH1) c.1155-13delT:-,NOT_FOUND:-,NOT_FOUND 2 209103958 . C . . NT END=209104586;NT GT ./. 2 209104230 rs7565247 A G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=IDH1/NM_001282387.1/0;CC=c.992-273T>C;VC=Intron;Gene=IDH1/NM_001282386.1/0;CC=c.992-273T>C;VC=Intron;Gene=IDH1/NM_005896.3/1;CC=c.992-273T>C;VC=Intron;DM=IDH1/Iso_dh GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:0:5:170:19.38:11.63:7.75:1.00:1.00:1.00:60:44.8:0:0:97:53:37:NM_005896.2(IDH1) c.992-273T>C,NM_005896.2(IDH1) c.992-273T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 209104728 . C . . NT END=209106717;NT GT ./. 2 209106870 . C . . NT END=209108150;NT GT ./. 2 209108329 . C . . NT END=209110042;NT GT ./. 2 209110149 . C . . NT END=209113092;NT GT ./. 2 209110270 rs71412484 C CTTT 15 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;Gene=IDH1/NM_001282387.1/0;CC=c.415-125_415-123dupAAA;VC=Intron;Gene=IDH1/NM_001282386.1/0;CC=c.415-125_415-123dupAAA;VC=Intron;Gene=IDH1/NM_005896.3/1;CC=c.415-125_415-123dupAAA;VC=Intron;DM=IDH1/Iso_dh;DM=IDH1/Iso_dh;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T,CTTT:6:0:10:0:1,5:10,306:0.53,15.47:0.00,0.00:0.53,15.47:0.00,0.93:0.00,0.00:0.00,0.93:60,60:137.0,104.0:0,5:0,0:102,91:49,59:0,12:NM_005896.2(IDH1) c.415-123_415-122insAAA,NM_005896.2(IDH1) c.415-123_415-122insAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 209113048 . GA G 7 rn VT=DEL;SST=Single;DP=40;NP=31;Gene=IDH1/NM_001282387.1/0;CC=c.414+44delT;VC=Intron;Gene=IDH1/NM_001282386.1/0;CC=c.414+44delT;VC=Intron;Gene=IDH1/NM_005896.3/1;CC=c.414+44delT;VC=Intron;DM=IDH1/Iso_dh;DM=IDH1/Iso_dh;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:GA,I,G:39:36:2:3:35,1,3:1093,67,97:0.00,1.79,6.58:0.00,0.74,4.28:0.00,1.06,2.30:0.00,0.00,0.37:0.00,0.00,0.84:0.00,0.00,0.57:60,60,60:28.5,0.0,0.0:0,1,0:0,0,0:46,85,28:105,65,118:28,40,5:-,NM_005896.2(IDH1) c.414+44delT:-,NOT_FOUND:-,NOT_FOUND 2 209113385 . C . . NT END=209116153;NT GT ./. 2 209116276 . T . . NT END=209136243;NT GT ./. 2 209134733 rs12185709 A T 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PIKFYVE/NM_001178000.1/0;CC=c.-9-1502A>T;VC=Intron;Gene=PIKFYVE/NM_152671.3/0;CC=c.-9-1502A>T;VC=Intron;Gene=PIKFYVE/NM_015040.3/1;CC=c.-9-1502A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:1:0:0:6:178:20.63:4.08:16.55:1.00:1.00:1.00:60:31.7:0:0:121:28:24:NM_015040.3(PIKFYVE) c.-9-1502A>T,NM_015040.3(PIKFYVE) c.-9-1502A>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 209136416 . G . . NT END=209138307;NT GT ./. 2 209138121 rs4673386 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_001178000.1/0;CC=c.173-187G>A;VC=Intron;Gene=PIKFYVE/NM_152671.3/0;CC=c.173-187G>A;VC=Intron;Gene=PIKFYVE/NM_015040.3/1;CC=c.173-187G>A;VC=Intron;DM=PIKFYVE/MHC_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:201:22.96:22.96:0.00:1.00:1.00:0.00:60:36.8:0:0:63:88:18:NM_015040.3(PIKFYVE) c.173-187G>A,NM_015040.3(PIKFYVE) c.173-187G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 209138458 . G . . NT END=209138744;NT GT ./. 2 209138778 . G . . NT END=209141435;NT GT ./. 2 209138946 rs6705163 C T 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.140;Gene=PIKFYVE/NM_001178000.1/0;CC=c.322+489C>T;VC=Intron;Gene=PIKFYVE/NM_152671.3/0;CC=c.322+489C>T;VC=Intron;Gene=PIKFYVE/NM_015040.3/1;CC=c.322+489C>T;VC=Intron;DM=PIKFYVE/MHC_I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:252:29.01:0.00:29.01:1.00:0.00:1.00:60:31.5:0:0:64:86:43:NM_015040.3(PIKFYVE) c.322+489C>T,NM_015040.3(PIKFYVE) c.322+489C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 209141555 . G . . NT END=209142260;NT GT ./. 2 209142433 . G . . NT END=209150449;NT GT ./. 2 209150658 . G . . NT END=209153452;NT GT ./. 2 209153543 . G . . NT END=209163364;NT GT ./. 2 209163504 . G . . NT END=209165660;NT GT ./. 2 209163556 rs7569723 C T 147 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.262;Gene=PIKFYVE/NM_001178000.1/0;CC=c.1050+53C>T;VC=Intron;Gene=PIKFYVE/NM_152671.3/0;CC=c.759+53C>T;VC=Intron;Gene=PIKFYVE/NM_015040.3/1;CC=c.1050+53C>T;VC=Intron;DM=PIKFYVE/MHC_I_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:T:41:17:0:0:41:1272:146.60:37.85:108.75:1.00:1.00:1.00:60:36.8:0:0:114:35:17:NM_015040.3(PIKFYVE) c.1050+53C>T,NM_015040.3(PIKFYVE) c.1050+53C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209165487 rs6755550 A T 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1852;Gene=PIKFYVE/NM_001178000.1/0;CC=c.1051-174A>T;VC=Intron;Gene=PIKFYVE/NM_152671.3/0;CC=c.760-174A>T;VC=Intron;Gene=PIKFYVE/NM_015040.3/1;CC=c.1051-174A>T;VC=Intron;DM=PIKFYVE/MHC_I_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:20:0:0:20:626:72.10:72.10:0.00:1.00:1.00:0.00:60:42.5:0:0:19:129:13:NM_015040.3(PIKFYVE) c.1051-174A>T,NM_015040.3(PIKFYVE) c.1051-174A>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 209165819 . G . . NT END=209166965;NT GT ./. 2 209167078 . G . . NT END=209168894;NT GT ./. 2 209168853 rs893256 C T 123 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_001178000.1/0;CC=c.1321-42C>T;VC=Intron;Gene=PIKFYVE/NM_152671.3/0;CC=c.1030-42C>T;VC=Intron;Gene=PIKFYVE/NM_015040.3/1;CC=c.1321-42C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:29:0:0:32:1079:123.16:102.39:20.77:1.00:1.00:1.00:60:37.8:0:0:52:97:27:NM_015040.3(PIKFYVE) c.1321-42C>T,NM_015040.3(PIKFYVE) c.1321-42C>T:0.94,0.94:0.921113,0.921113 2 209169043 . G . . NT END=209169569;NT GT ./. 2 209170274 . T . . NT END=209176959;NT GT ./. 2 209176807 rs12624141 T G 27 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.460;Gene=PIKFYVE/NM_015040.3/1;CC=c.1637-153T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:237:27.04:27.04:0.00:1.00:1.00:0.00:60:33.9:0:0:47:104:29:NM_015040.3(PIKFYVE) c.1637-153T>G,NM_015040.3(PIKFYVE) c.1637-153T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 209177020 . G . . NT END=209179017;NT GT ./. 2 209179148 . G . . NT END=209179916;NT GT ./. 2 209179732 rs6736599 A G,T 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.120;DM=PIKFYVE/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:G,T:8:8:0:0:7,1:231,21:26.03,1.68:26.03,1.68:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.3,95.0:0,0:0,0:39,134:112,16:26,0:NM_015040.3(PIKFYVE) c.1827-185A>G,NM_015040.3(PIKFYVE) c.1827-185A>T:0.79,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 209180098 . G . . NT END=209182590;NT GT ./. 2 209180234 rs75428220 C CTTTG 62 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1027;Gene=PIKFYVE/NM_015040.3/1;CC=c.2007+140_2007+143dupTGTT;VC=Intron;DM=PIKFYVE/Cpn60_TCP1;DM=PIKFYVE/Cpn60_TCP1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C,CTTTG:18:0:17:0:1,17:34,554:0.00,61.83:0.00,0.00:0.00,61.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,3.6:0,0:0,0:139,103:7,48:0,14:NM_015040.3(PIKFYVE) c.2007+137_2007+138insTTTG,NM_015040.3(PIKFYVE) c.2007+137_2007+138insTTTG:0.93,0.93:NOT_FOUND,NOT_FOUND 2 209182666 . G . . NT END=209184975;NT GT ./. 2 209184980 rs10932258 G A 40 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=3480;PC=1.000;Gene=PIKFYVE/NM_015040.3/1;CC=c.2087G>A;ProtCh=p.S696N;VC=Missense;DM=PIKFYVE/Cpn60_TCP1;DM=PIKFYVE/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:344:39.64:35.76:3.88:1.00:1.00:1.00:60:74.3:0:0:65:86:31:NM_015040.3(PIKFYVE) c.2087G>A (p.Ser696Asn),NM_015040.3(PIKFYVE) c.2087G>A (p.Ser696Asn):0.99,0.99:0.992151,0.992151 2 209184999 rs10932259 C T 45 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PIKFYVE/NM_015040.3/1;CC=c.2106C>T;ProtCh=p.P702=;VC=Silent;DM=PIKFYVE/Cpn60_TCP1;DM=PIKFYVE/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:12:0:0:12:394:45.10:33.22:11.88:1.00:1.00:1.00:60:69.7:0:0:68:82:31:NM_015040.3(PIKFYVE) c.2106C>T (p.(=)),NM_015040.3(PIKFYVE) c.2106C>T (p.(=)):0.94,0.94:0.922135,0.922135 2 209185084 . G . . NT END=209188865;NT GT ./. 2 209188660 rs12693132 C T 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=320;PC=0.181;Gene=PIKFYVE/NM_015040.3/1;CC=c.2191-206C>T;VC=Intron;DM=PIKFYVE/Cpn60_TCP1;DM=PIKFYVE/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:5:5:0:0:1,4:34,128:0.00,13.62:0.00,13.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:53,42:0.0,51.8:0,0:0,0:10,33:140,118:0,10:-,NM_015040.3(PIKFYVE) c.2191-206C>T:-,NOT_FOUND:-,NOT_FOUND 2 209188678 rs573914109 GTTGT G 31 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=794;PC=0.005;Gene=PIKFYVE/NM_015040.3/1;CC=c.2191-181_2191-178delGTTT;VC=Intron;DM=PIKFYVE/Cpn60_TCP1;DM=PIKFYVE/Cpn60_TCP1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:9:9:269:31.19:31.19:0.00:1.00:1.00:0.00:70:29.1:0:0:28:122:19:NM_015040.3(PIKFYVE) c.2191-187_2191-184delTTGT,NM_015040.3(PIKFYVE) c.2191-187_2191-184delTTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 209189007 . G . . NT END=209189634;NT GT ./. 2 209189442 rs7355562 T C 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.964;Gene=PIKFYVE/NM_015040.3/1;CC=c.2332-193T>C;VC=Intron;DM=PIKFYVE/Cpn60_TCP1;DM=PIKFYVE/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:6:0:0:7:247:28.04:24.16:3.88:1.00:1.00:1.00:60:40.6:0:0:48:103:35:NM_015040.3(PIKFYVE) c.2332-193T>C,NM_015040.3(PIKFYVE) c.2332-193T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 2 209189762 . G . . NT END=209189993;NT GT ./. 2 209189912 rs893255 A G 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.2459-82A>G;VC=Intron;DM=PIKFYVE/Cpn60_TCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:16:0:0:25:787:90.54:52.62:37.92:1.00:1.00:1.00:60:39.9:0:0:69:80:42:NM_015040.3(PIKFYVE) c.2459-82A>G,NM_015040.3(PIKFYVE) c.2459-82A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209190330 rs2363468 T C 460 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=NA;PC=0.264;Gene=PIKFYVE/NM_015040.3/1;CC=c.2795T>C;ProtCh=p.L932S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:130:85:0:0:130:3990:460.46:238.89:221.57:1.00:1.00:1.00:60:37.9:0:0:70:74:45:NM_015040.3(PIKFYVE) c.2795T>C (p.Leu932Ser),NM_015040.3(PIKFYVE) c.2795T>C (p.Leu932Ser):0.94,0.94:0.92242,0.92242 2 209190519 rs893254 A T 424 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=NA;PC=0.164;Gene=PIKFYVE/NM_015040.3/1;CC=c.2984A>T;ProtCh=p.Q995L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:112:63:0:0:1,111:6,3712:0.03,423.63:0.03,191.59:0.00,232.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:85.0,69.8:0,0:0,0:149,83:2,64:0,34:NM_015040.3(PIKFYVE) c.2984A>T (p.Gln995Leu),NM_015040.3(PIKFYVE) c.2984A>T (p.Gln995Leu):0.91,0.91:0.922344,0.922344 2 209190528 rs893253 C G 396 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PIKFYVE/NM_015040.3/1;CC=c.2993C>G;ProtCh=p.T998S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:107:55:0:0:106,1:3458,10:395.74,0.09:171.76,0.00:223.99,0.09:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.9,129.0:0,0:0,0:83,88:66,22:34,0:NM_015040.3(PIKFYVE) c.2993C>G (p.Thr998Ser),NM_015040.3(PIKFYVE) c.2993C>G (p.Thr998Ser):0.94,0.94:0.923112,0.923112 2 209191082 rs1529979 C A 249 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.998;Gene=PIKFYVE/NM_015040.3/1;CC=c.3547C>A;ProtCh=p.Q1183K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:68:37:0:0:68:2163:248.52:105.65:142.87:1.00:1.00:1.00:60:63.7:0:0:85:65:41:NM_015040.3(PIKFYVE) c.3547C>A (p.Gln1183Lys),NM_015040.3(PIKFYVE) c.3547C>A (p.Gln1183Lys):0.94,0.94:0.922344,0.922344 2 209191099 rs1529978 T C 217 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=3484;Gene=PIKFYVE/NM_015040.3/1;CC=c.3564T>C;ProtCh=p.N1188=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:171:C:61:31:0:0:61:1879:216.68:92.89:123.79:1.00:1.00:1.00:60:67.2:0:0:74:75:34:NM_015040.3(PIKFYVE) c.3564T>C (p.(=)),NM_015040.3(PIKFYVE) c.3564T>C (p.(=)):1,1:0.994618,0.994618 2 209191154 . G . . NT END=209192903;NT GT ./. 2 209193005 . G . . NT END=209194565;NT GT ./. 2 209193185 rs976247 C A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.3719+181C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:38.5:0:0:87:64:11:NM_015040.3(PIKFYVE) c.3719+181C>A,NM_015040.3(PIKFYVE) c.3719+181C>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209194638 . G . . NT END=209195246;NT GT ./. 2 209194696 rs1437414 G C 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.3791+59G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:2:0:0:14:431:49.74:5.87:43.87:1.00:1.00:1.00:60:37.5:0:0:109:41:27:NM_015040.3(PIKFYVE) c.3791+59G>C,NM_015040.3(PIKFYVE) c.3791+59G>C:0.94,0.94:0.928477,0.928477 2 209195099 rs1866045 G A 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.3792-148G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:19:0:0:19:611:70.11:70.11:0.00:1.00:1.00:0.00:60:72.7:0:0:46:105:23:NM_015040.3(PIKFYVE) c.3792-148G>A,NM_015040.3(PIKFYVE) c.3792-148G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209195133 rs12694109 T C 86 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.3792-114T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:24:0:0:24:744:85.84:85.84:0.00:1.00:1.00:0.00:60:71.5:0:0:60:89:27:NM_015040.3(PIKFYVE) c.3792-114T>C,NM_015040.3(PIKFYVE) c.3792-114T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 209195419 . G . . NT END=209198038;NT GT ./. 2 209195491 rs78146717 G GAGA 63 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3056;Gene=PIKFYVE/NM_015040.3/1;CC=c.3963+75_3963+76insAAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:G,GAGA:23:4:19:0:4,19:95,589:0.00,63.44:0.00,4.52:0.00,58.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,5.7:0,0:0,0:142,95:3,56:1,30:-,NM_015040.3(PIKFYVE) c.3963+73_3963+74insAGA:-,NOT_FOUND:-,NOT_FOUND 2 209197957 rs370703596 C CA 16 rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=7;PC=0.005;Gene=PIKFYVE/NM_015040.3/1;CC=c.3964-70_3964-69insA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,CA:30:28:6:0:24,6:803,193:0.00,15.64:0.00,13.06:0.00,2.59:0.00,0.90:0.00,0.99:0.00,0.71:60,60:20.2,6.5:0,0:0,0:46,77:105,73:32,40:-,NM_015040.3(PIKFYVE) c.3964-82_3964-81insA:-,NOT_FOUND:-,NOT_FOUND 2 209198218 . G . . NT END=209200029;NT GT ./. 2 209199945 rs2363469 A G 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PIKFYVE/NM_015040.3/1;CC=c.4143-85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:8:0:0:9:265:30.73:27.06:3.68:1.00:1.00:1.00:60:59.1:0:0:78:72:28:NM_015040.3(PIKFYVE) c.4143-85A>G,NM_015040.3(PIKFYVE) c.4143-85A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209200144 . G . . NT END=209200516;NT GT ./. 2 209200394 rs6718402 A C 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.140;Gene=PIKFYVE/NM_015040.3/1;CC=c.4257-123A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:11:0:0:13:398:45.96:38.00:7.95:1.00:1.00:1.00:60:43.5:0:0:85:66:37:NM_015040.3(PIKFYVE) c.4257-123A>C,NM_015040.3(PIKFYVE) c.4257-123A>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209200626 . G . . NT END=209200769;NT GT ./. 2 209200925 . G . . NT END=209201561;NT GT ./. 2 209201054 rs6744236 T C 64 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PIKFYVE/NM_015040.3/1;CC=c.4520+130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:1:0:0:21:541:63.95:1.96:61.99:1.00:1.00:1.00:60:30.0:0:0:99:51:43:NM_015040.3(PIKFYVE) c.4520+130T>C,NM_015040.3(PIKFYVE) c.4520+130T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 209201653 . G . . NT END=209203231;NT GT ./. 2 209201739 rs7596571 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.4611+87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:312:36.35:0.00:36.35:1.00:0.00:1.00:60:32.3:0:0:116:33:29:NM_015040.3(PIKFYVE) c.4611+87T>C,NM_015040.3(PIKFYVE) c.4611+87T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 209203122 rs4675756 C G 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2596;PC=0.001;Gene=PIKFYVE/NM_015040.3/1;CC=c.4612-110C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:9:0:0:10:331:37.87:33.99:3.88:1.00:1.00:1.00:60:35.9:0:0:52:99:44:NM_015040.3(PIKFYVE) c.4612-110C>G,NM_015040.3(PIKFYVE) c.4612-110C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 209203293 . G . . NT END=209204141;NT GT ./. 2 209204280 . G . . NT END=209204734;NT GT ./. 2 209204714 rs2289171 G A 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.4811-21G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:42:0:0:22,25:706,835:66.99,0.00:51.17,0.00:15.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,7.8:0,0:0,0:43,61:100,89:20,22:NM_015040.3(PIKFYVE) c.4811-21G>A,-:0.35,-:0.307136,- 2 209204856 . G . . NT END=209207277;NT GT ./. 2 209207374 . G . . NT END=209209834;NT GT ./. 2 209209827 rs2304544 G A 107 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.5028-8G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:21:0:0:29:932:107.03:64.14:42.88:1.00:1.00:1.00:60:35.2:0:0:39:109:26:NM_015040.3(PIKFYVE) c.5028-8G>A,NM_015040.3(PIKFYVE) c.5028-8G>A:0.94,0.94:0.921652,0.921652 2 209209919 . G . . NT END=209210773;NT GT ./. 2 209209997 rs2043718 C T 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=2609;Gene=PIKFYVE/NM_015040.3/1;CC=c.5111+79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:325:37.72:0.00:37.72:1.00:0.00:1.00:60:33.4:0:0:104:46:26:NM_015040.3(PIKFYVE) c.5111+79C>T,NM_015040.3(PIKFYVE) c.5111+79C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 209210872 . G . . NT END=209212582;NT GT ./. 2 209212366 rs2118296 G A 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.5210-217G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:133:15.64:15.64:0.00:1.00:1.00:0.00:60:52.4:0:0:28:122:26:NM_015040.3(PIKFYVE) c.5210-217G>A,NM_015040.3(PIKFYVE) c.5210-217G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209212707 rs2304545 G A 247 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.990;Gene=PIKFYVE/NM_015040.3/1;CC=c.5334G>A;ProtCh=p.T1778=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:A:63:35:0:0:63:2170:247.04:93.04:154.00:1.00:1.00:1.00:60:39.1:0:0:63:73:32:NM_015040.3(PIKFYVE) c.5334G>A (p.(=)),NM_015040.3(PIKFYVE) c.5334G>A (p.(=)):0.76,0.76:0.683069,0.683069 2 209212748 . G . . NT END=209214747;NT GT ./. 2 209214574 rs1561240 G A 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PIKFYVE/NM_015040.3/1;CC=c.5375-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:290:33.29:33.29:0.00:1.00:1.00:0.00:60:44.0:0:0:32:118:15:NM_015040.3(PIKFYVE) c.5375-174G>A,NM_015040.3(PIKFYVE) c.5375-174G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209214770 rs2118297 A G 81 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PIKFYVE/NM_015040.3/1;CC=c.5397A>G;ProtCh=p.T1799=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:13:0:0:22:708:81.25:38.46:42.79:1.00:1.00:1.00:60:43.2:0:0:74:71:33:NM_015040.3(PIKFYVE) c.5397A>G (p.(=)),NM_015040.3(PIKFYVE) c.5397A>G (p.(=)):0.94,0.94:0.921793,0.921793 2 209214808 . G . . NT END=209215494;NT GT ./. 2 209215448 rs994696 A G 149 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.236;Gene=PIKFYVE/NM_015040.3/1;CC=c.5435-47A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G:38:34:0:0:38:1307:148.82:119.45:29.38:1.00:1.00:1.00:60:50.2:0:0:25:111:20:NM_015040.3(PIKFYVE) c.5435-47A>G,NM_015040.3(PIKFYVE) c.5435-47A>G:0.94,0.94:0.922178,0.922178 2 209215586 rs994697 A G 249 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=0.854;Gene=PIKFYVE/NM_015040.3/1;CC=c.5526A>G;ProtCh=p.E1842=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:A,G:67:49:0:0:1,66:24,2197:0.00,248.91:0.00,132.10:0.00,116.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:253.0,41.4:0,0:0,0:144,74:3,73:0,34:NM_015040.3(PIKFYVE) c.5526A>G (p.(=)),NM_015040.3(PIKFYVE) c.5526A>G (p.(=)):0.94,0.94:0.921882,0.921882 2 209215672 . G . . NT END=209216075;NT GT ./. 2 209216180 . G . . NT END=209217377;NT GT ./. 2 209217507 . G . . NT END=209218621;NT GT ./. 2 209218884 . G . . NT END=209219294;NT GT ./. 2 209219049 rs6435452 T A 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.6106+166T>A;VC=Intron;DM=PIKFYVE/PIP5K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:4:0:0:13:417:47.90:15.41:32.49:1.00:1.00:1.00:60:34.7:0:0:49:101:23:NM_015040.3(PIKFYVE) c.6106+166T>A,NM_015040.3(PIKFYVE) c.6106+166T>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209219190 rs6435453 A G 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PIKFYVE/NM_015040.3/1;CC=c.6107-105A>G;VC=Intron;DM=PIKFYVE/PIP5K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:9:0:0:12:414:47.12:35.49:11.63:1.00:1.00:1.00:60:39.3:0:0:29:122:26:NM_015040.3(PIKFYVE) c.6107-105A>G,NM_015040.3(PIKFYVE) c.6107-105A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209219370 . G . . NT END=209219913;NT GT ./. 2 209220030 . A . . NT END=209271768;NT GT ./. 2 209220157 rs10208191 G T 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PIKFYVE/NM_015040.3/1;CC=c.*128G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:122:14.10:0.00:14.10:1.00:0.00:1.00:60:47.2:0:0:97:53:19:NM_015040.3(PIKFYVE) c.*128G>T,NM_015040.3(PIKFYVE) c.*128G>T:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209254048 rs7607092 C G 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PTH2R/NM_001309516.1/1;CC=c.-259+29086C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:152:17.58:0.00:17.58:1.00:0.00:1.00:60:52.2:0:0:107:30:24:chr2 g.209254047C>G (intergenic),chr2 g.209254047C>G (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 2 209271844 . G . . NT END=209292925;NT GT ./. 2 209293029 . G . . NT END=209302261;NT GT ./. 2 209293168 rs962595 C T 23 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=PTH2R/NM_001309516.1/1;CC=c.-156+140C>T;VC=Intron;Gene=PTH2R/NM_005048.3/0;CC=c.178+140C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:38.7:0:0:108:41:24:NM_005048.2(PTH2R) c.178+140C>T,NM_005048.2(PTH2R) c.178+140C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 2 209302373 . G . . NT END=209302484;NT GT ./. 2 209302607 . G . . NT END=209307088;NT GT ./. 2 209307104 rs61744730 C T 20 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PTH2R/NM_001309516.1/1;CC=c.94C>T;ProtCh=p.R32C;VC=Missense;Gene=PTH2R/NM_005048.3/0;CC=c.427C>T;ProtCh=p.R143C;VC=Missense;DM=PTH2R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:19:0:0:13,8:436,221:0.00,19.82:0.00,15.32:0.00,4.50:0.00,0.99:0.00,1.00:0.00,0.98:60,60:11.8,32.4:0,0:0,0:91,79:58,70:34,25:-,NM_005048.2(PTH2R) c.427C>T (p.Arg143Cys):-,0.02:-,0.011994 2 209307187 . G . . NT END=209308072;NT GT ./. 2 209308263 . G . . NT END=209309458;NT GT ./. 2 209309613 . G . . NT END=209315473;NT GT ./. 2 209315535 . G . . NT END=209324619;NT GT ./. 2 209315573 rs1370371 G A 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.632;Gene=PTH2R/NM_001309516.1/1;CC=c.581+39G>A;VC=Intron;Gene=PTH2R/NM_005048.3/0;CC=c.914+39G>A;VC=Intron;DM=PTH2R/7tm_2;DM=PTH2R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A:30:12:0:0:30:966:110.89:28.20:82.69:1.00:1.00:1.00:60:34.2:0:0:114:36:14:NM_005048.2(PTH2R) c.914+39G>A,NM_005048.2(PTH2R) c.914+39G>A:0.63,0.63:0.504844,0.504844 2 209324687 . G . . NT END=209345794;NT GT ./. 2 209345666 rs1377907 T G 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=PTH2R/NM_001309516.1/1;CC=c.649-129T>G;VC=Intron;Gene=PTH2R/NM_005048.3/0;CC=c.982-129T>G;VC=Intron;DM=PTH2R/7tm_2;DM=PTH2R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:C,G,T:11:11:0:0:1,4,6:10,132,171:0.28,12.18,0.00:0.28,12.18,0.00:0.00,0.00,0.00:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.00,0.00:60,60,60:89.0,36.2,33.5:0,0,0:0,0,0:111,103,61:40,47,89:0,16,20:NM_005048.2(PTH2R) c.982-129T>G,-:0.57,-:NOT_FOUND,- 2 209345890 . G . . NT END=209353736;NT GT ./. 2 209345944 rs564417942 CT C 21 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=76;PC=0.718;Gene=PTH2R/NM_001309516.1/1;CC=c.743+72delT;VC=Intron;Gene=PTH2R/NM_005048.3/0;CC=c.1076+72delT;VC=Intron;DM=PTH2R/7tm_2;DM=PTH2R/7tm_2;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:16:4:0:9:9,7:271,292:0.00,21.26:0.00,5.10:0.00,16.16:0.00,0.98:0.00,0.86:0.00,1.00:60,60:16.1,11.7:0,2:0,0:123,109:28,42:24,20:-,NM_005048.2(PTH2R) c.1076+56delT:-,NOT_FOUND:-,NOT_FOUND 2 209353558 rs6754577 C T 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PTH2R/NM_001309516.1/1;CC=c.744-179C>T;VC=Intron;Gene=PTH2R/NM_005048.3/0;CC=c.1077-179C>T;VC=Intron;DM=PTH2R/7tm_2;DM=PTH2R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:8,10:236,305:0.00,29.91:0.00,29.91:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:37.4,56.1:0,0:0,0:20,85:130,63:10,32:-,NM_005048.2(PTH2R) c.1077-179C>T:-,0.53:-,NOT_FOUND 2 209353607 rs6726003 A G 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.005;Gene=PTH2R/NM_001309516.1/1;CC=c.744-130A>G;VC=Intron;Gene=PTH2R/NM_005048.3/0;CC=c.1077-130A>G;VC=Intron;DM=PTH2R/7tm_2;DM=PTH2R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:25:0:0:12,14:317,473:0.00,46.22:0.00,39.83:0.00,6.40:0.00,1.00:0.00,1.00:0.00,0.96:60,60:19.8,51.9:0,0:0,0:42,46:103,104:27,41:-,NM_005048.2(PTH2R) c.1077-130A>G:-,0.55:-,NOT_FOUND 2 209353656 rs556088959 GT G 91 rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2333;Gene=PTH2R/NM_001309516.1/1;CC=c.744-71delT;VC=Intron;Gene=PTH2R/NM_005048.3/0;CC=c.1077-71delT;VC=Intron;DM=PTH2R/7tm_2;DM=PTH2R/7tm_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:55:48:2:30:23,2,30:711,57,929:0.00,3.42,91.46:0.00,3.47,59.17:0.00,-0.06,32.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.5,26.0,26.4:0,0,0:0,0,0:43,12,38:108,138,108:25,1,27:-,NM_005048.2(PTH2R) c.1077-80delT:-,NOT_FOUND:-,NOT_FOUND 2 209353876 . G . . NT END=209355363;NT GT ./. 2 209355406 . G . . NT END=209357988;NT GT ./. 2 209358027 rs3820900 C T 192 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=NA;PC=0.930;Gene=PTH2R/NM_001309516.1/1;CC=c.963C>T;ProtCh=p.N321=;VC=Silent;Gene=PTH2R/NM_005048.3/0;CC=c.1296C>T;ProtCh=p.N432=;VC=Silent;DM=PTH2R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:95:0:0:48,60:1558,1957:0.00,192.10:0.00,126.14:0.00,65.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,35.4:0,0:0,0:71,59:68,89:39,31:-,NM_005048.2(PTH2R) c.1296C>T (p.(=)):-,0.73:-,0.809242 2 209358385 . A . . NT END=210517894;NT GT ./. 2 209358645 rs71579839 A AT 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=168;PC=0.001;Gene=PTH2R/NM_001309516.1/1;CC=c.*268dupT;VC=3UTR;Gene=PTH2R/NM_005048.3/0;CC=c.*268dupT;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,AT:6:0:3:0:3,3:89,92:0.00,8.82:0.00,0.00:0.00,8.82:0.00,0.73:0.00,0.00:0.00,0.73:60,60:34.7,13.7:0,0:0,0:148,85:3,66:0,39:-,NM_005048.2(PTH2R) c.*268dupT:-,NOT_FOUND:-,NOT_FOUND 2 209593630 rs9967841 G A,GTA 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=137;NP=161;NP=2;NP=48;PC=0.052 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:25:A,GTA:4:3:3:0:1,3:31,94:2.98,10.46:0.00,5.23:2.98,5.23:0.00,0.85:0.00,0.99:0.00,0.85:60,70:59.0,0.0:0,0:0,0:136,61:14,70:0,23:chr2 g.209593629G>A (intergenic),chr2 g.209593630_209593631insTA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 210009769 rs13016106 A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,C,G:6:6:0:0:2,1,3:37,12,95:0.00,0.76,9.44:0.00,0.76,9.44:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,70,60:92.0,141.0,81.0:0,0,0:0,0,0:28,107,6:112,44,144:15,0,5:-,chr2 g.210009768A>G (intergenic):-,0.15:-,NOT_FOUND 2 210009863 rs10202412 G A 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.205 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,G:14:14:0:0:10,4:300,136:31.10,0.00:31.10,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:67.6,0.0:0,0:0,0:74,27:76,122:38,9:chr2 g.210009862G>A (intergenic),-:0.47,-:NOT_FOUND,- 2 210009946 rs34771635 A C 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:38:38:0:0:25,13:826,402:0.00,35.79:0.00,35.79:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.8,67.6:0,0:0,0:34,52:117,97:21,34:-,chr2 g.210009945A>C (intergenic):-,0.51:-,NOT_FOUND 2 210010065 rs7421261 C T 169 nt VT=SNV;PN=G;NN=C;SST=Single;DP=125;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:125:112:0:0:66,59:2240,1787:0.00,169.22:0.00,116.92:0.00,52.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.7,91.5:0,0:0,0:37,40:110,102:18,22:-,chr2 g.210010064C>T (intergenic):-,0.48:-,NOT_FOUND 2 210010067 rs7423165 T C 174 nt VT=SNV;PN=C;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:129:115:0:0:59,1,69:1838,5,2332:173.52,-0.22,0.00:119.62,-0.17,0.00:53.90,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:93.5,89.0,33.4:0,0,0:0,0,0:39,66,38:103,85,109:22,0,20:chr2 g.210010066T>C (intergenic),-:0.48,-:NOT_FOUND,- 2 210010136 rs5017675 T C 769 nt VT=SNV;PN=G;NN=G;SST=Single;DP=202;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:202:161:0:0:202:6725:768.53:469.34:299.19:1.00:1.00:1.00:60:59.3:0:0:72:75:32:chr2 g.210010135T>C (intergenic),chr2 g.210010135T>C (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 2 210010228 rs5017674 C G 250 nt VT=SNV;PN=T;NN=G;SST=Single;DP=191;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:191:123:0:0:110,81:3549,2677:0.00,249.81:0.00,116.75:0.00,133.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.5,59.9:0,0:0,0:91,102:53,42:28,26:-,chr2 g.210010227C>G (intergenic):-,0.46:-,NOT_FOUND 2 210010555 rs13017716 A G 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:10:0:0:0:4,6:106,186:0.00,18.55:0.00,0.00:0.00,18.55:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.2,34.3:0,0:0,0:92,95:58,54:10,12:-,chr2 g.210010554A>G (intergenic):-,0.15:-,NOT_FOUND 2 210044418 rs13418760 C T 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:13:0:0:11,9:368,289:0.00,27.22:0.00,18.08:0.00,9.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,64.0:0,0:0,0:101,42:50,108:25,18:-,chr2 g.210044417C>T (intergenic):-,0.27:-,NOT_FOUND 2 210044484 rs10198749 G T 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:11:0:0:16:468:54.35:35.85:18.50:1.00:1.00:1.00:60:58.8:0:0:106:44:28:chr2 g.210044483G>T (intergenic),chr2 g.210044483G>T (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 210044610 rs6753340 C G 115 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G:31:21:0:0:31:1005:115.28:61.75:53.53:1.00:1.00:1.00:60:44.5:0:0:86:65:18:chr2 g.210044609C>G (intergenic),chr2 g.210044609C>G (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 210044774 rs6756445 C T 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:10:0:0:11,8:384,249:0.00,23.10:0.00,10.58:0.00,12.52:0.00,0.99:0.00,0.99:0.00,0.99:60,60:1.7,64.1:0,0:0,0:78,54:71,96:28,39:-,chr2 g.210044773C>T (intergenic):-,0.34:-,NOT_FOUND 2 210044808 rs6727838 A G 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:14:0:0:13,9:427,297:0.00,27.53:0.00,15.23:0.00,12.30:0.00,1.00:0.00,1.00:0.00,0.99:60,60:10.8,60.1:0,0:0,0:95,48:55,103:31,28:-,chr2 g.210044807A>G (intergenic):-,0.34:-,NOT_FOUND 2 210045229 rs4332863 A G 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,G:18:16:0:0:4,14:133,425:0.00,44.96:0.00,32.45:0.00,12.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,54.1:0,0:0,0:53,61:98,89:8,36:-,chr2 g.210045228A>G (intergenic):-,0.34:-,NOT_FOUND 2 210045293 rs6435517 T C 69 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,T:25:18:0:0:20,5:645,160:68.57,0.00:34.77,0.00:33.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.4,4.6:0,0:0,0:54,102:93,49:33,16:chr2 g.210045292T>C (intergenic),-:0.34,-:NOT_FOUND,- 2 210045748 rs1837432 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:2:0:0:9:297:33.99:3.78:30.22:1.00:1.00:1.00:60:37.7:0:0:100:50:31:chr2 g.210045747C>T (intergenic),chr2 g.210045747C>T (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 210045844 rs1837431 A G 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:1:0:0:1,3:34,103:0.00,10.75:0.00,1.93:0.00,8.83:0.00,0.85:0.00,0.83:0.00,0.85:60,60:0.0,82.3:0,0:0,0:10,116:140,34:0,10:-,chr2 g.210045843A>G (intergenic):-,0.34:-,NOT_FOUND 2 210377280 rs150144839 TACACACACACACAC T 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=138;Gene=MAP2/NM_001039538.1/1;CC=c.-172+4947_-172+4960delCACACACACACACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TACACACACACACAC,T:3:3:0:4:1,2:33,131:0.00,6.54:0.00,4.96:0.00,1.58:0.00,0.46:0.00,0.80:0.00,0.87:55,60:32.0,17.0:0,2:0,0:112,48:34,74:0,21:-,NM_001039538.1(MAP2) c.-172+4916_-172+4929delACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 210517785 rs2254169 C T 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=1897;Gene=MAP2/NM_001039538.1/1;CC=c.-29-81C>T;VC=Intron;Gene=MAP2/NM_002374.3/0;CC=c.-29-81C>T;VC=Intron;Gene=MAP2/NM_031845.2/0;CC=c.-29-81C>T;VC=Intron;Gene=MAP2/NM_031847.2/0;CC=c.-29-81C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:34:0:0:35:1119:128.52:113.81:14.71:1.00:1.00:1.00:60:41.5:0:0:50:101:24:NM_002374.3(MAP2) c.-29-81C>T,NM_002374.3(MAP2) c.-29-81C>T:1,1:NOT_FOUND,NOT_FOUND 2 210518157 . G . . NT END=210526238;NT GT ./. 2 210526403 . G . . NT END=210543295;NT GT ./. 2 210543410 . G . . NT END=210545473;NT GT ./. 2 210545552 . G . . NT END=210555326;NT GT ./. 2 210555239 rs72999563 T C 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3;PC=0.007;Gene=MAP2/NM_001039538.1/1;CC=c.454+9688T>C;VC=Intron;Gene=MAP2/NM_002374.3/0;CC=c.455-2110T>C;VC=Intron;Gene=MAP2/NM_031845.2/0;CC=c.454+9688T>C;VC=Intron;Gene=MAP2/NM_031847.2/0;CC=c.454+9688T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:39:37:0:0:20,1,18:627,10,571:60.83,0.02,0.00:54.40,0.06,0.00:6.42,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:53.8,187.0,8.1:0,0,0:0,0,0:39,111,43:106,40,106:25,0,28:NM_002374.3(MAP2) c.455-2110T>C,-:0.01,-:NOT_FOUND,- 2 210555573 . G . . NT END=210557348;NT GT ./. 2 210555776 rs3768812 C T 95 nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.996;Gene=MAP2/NM_001039538.1/1;CC=c.455-9225C>T;VC=Intron;Gene=MAP2/NM_002374.3/0;CC=c.455-1573C>T;VC=Intron;Gene=MAP2/NM_031845.2/0;CC=c.455-9225C>T;VC=Intron;Gene=MAP2/NM_031847.2/0;CC=c.455-9225C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:0:0:0:26:830:95.35:0.00:95.35:1.00:0.00:1.00:60:41.1:0:0:87:61:33:NM_002374.3(MAP2) c.455-1573C>T,NM_002374.3(MAP2) c.455-1573C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 2 210561075 . G . . NT END=210561265;NT GT ./. 2 210561473 . G . . NT END=210561640;NT GT ./. 2 210561776 . G . . NT END=210565000;NT GT ./. 2 210561820 . AT A 7 rn VT=DEL;SST=Single;DP=31;NP=14;PC=0.001;Gene=MAP2/NM_001039538.1/1;CC=c.455-3171delT;VC=Intron;Gene=MAP2/NM_002374.3/0;CC=c.4522+55delT;VC=Intron;Gene=MAP2/NM_031845.2/0;CC=c.455-3171delT;VC=Intron;Gene=MAP2/NM_031847.2/0;CC=c.455-3171delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AT,I,A:31:8:1:3:27,1,3:867,33,96:0.00,1.90,6.80:0.00,-0.06,-0.20:0.00,1.97,7.00:0.00,0.00,0.42:0.00,0.00,0.51:0.00,0.00,0.88:60,60,60:2.7,0.0,0.0:0,0,0:0,0,0:68,68,126:72,81,24:30,0,0:-,NM_002374.3(MAP2) c.4522+46delT:-,NOT_FOUND:-,0.004702 2 210565063 . G . . NT END=210569173;NT GT ./. 2 210569345 . G . . NT END=210570303;NT GT ./. 2 210570452 . G . . NT END=210574637;NT GT ./. 2 210574979 . G . . NT END=210588318;NT GT ./. 2 210588412 . G . . NT END=210590432;NT GT ./. 2 210590515 . G . . NT END=210594573;NT GT ./. 2 210594540 rs4673486 A G 144 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.003;Gene=MAP2/NM_001039538.1/1;CC=c.1352-34A>G;VC=Intron;Gene=MAP2/NM_002374.3/0;CC=c.5156-34A>G;VC=Intron;Gene=MAP2/NM_031845.2/0;CC=c.1088-34A>G;VC=Intron;Gene=MAP2/NM_031847.2/0;CC=c.1181-34A>G;VC=Intron;DM=MAP2/Tubulin-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:G:40:36:0:0:40:1253:144.29:109.89:34.39:1.00:1.00:1.00:60:45.7:0:0:40:108:23:NM_002374.3(MAP2) c.5156-34A>G,NM_002374.3(MAP2) c.5156-34A>G:0.77,0.77:0.753114,0.753114 2 210594687 . G . . NT END=210594905;NT GT ./. 2 210594717 rs11389149 C CT 92 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=3265;Gene=MAP2/NM_001039538.1/1;CC=c.1464+36dupT;VC=Intron;Gene=MAP2/NM_002374.3/0;CC=c.5268+36dupT;VC=Intron;Gene=MAP2/NM_031845.2/0;CC=c.1200+36dupT;VC=Intron;Gene=MAP2/NM_031847.2/0;CC=c.1293+36dupT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,CT:32:13:27:0:5,27:128,850:0.00,91.90:0.00,26.56:0.00,65.34:0.00,1.00:0.00,1.00:0.00,1.00:60,70:14.6,26.4:1,0:0,0:145,91:5,60:2,25:-,NM_002374.3(MAP2) c.5268+31_5268+32insT:-,0.82:-,NOT_FOUND 2 210594768 rs7594601 T C 116 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=MAP2/NM_001039538.1/1;CC=c.1464+82T>C;VC=Intron;Gene=MAP2/NM_002374.3/0;CC=c.5268+82T>C;VC=Intron;Gene=MAP2/NM_031845.2/0;CC=c.1200+82T>C;VC=Intron;Gene=MAP2/NM_031847.2/0;CC=c.1293+82T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:13:0:0:31:1011:115.84:46.25:69.58:1.00:1.00:1.00:60:46.3:0:0:63:88:38:NM_002374.3(MAP2) c.5268+82T>C,NM_002374.3(MAP2) c.5268+82T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 210595122 . A . . NT END=210636796;NT GT ./. 2 210598184 rs563922355 CCACA C 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.980;Gene=MAP2/NM_001039538.1/1;CC=c.*3093_*3096delACAC;VC=3UTR;Gene=MAP2/NM_002374.3/0;CC=c.*3093_*3096delACAC;VC=3UTR;Gene=MAP2/NM_031845.2/0;CC=c.*3093_*3096delACAC;VC=3UTR;Gene=MAP2/NM_031847.2/0;CC=c.*3093_*3096delACAC;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CCACA,C:4:4:0:3:1,3:34,98:0.00,10.25:0.00,8.73:0.00,1.53:0.00,0.85:0.00,0.85:0.00,0.95:60,60:31.0,6.3:0,0:0,0:30,14:121,134:0,0:-,NM_002374.3(MAP2) c.*3065AC[14]:-,NOT_FOUND:-,NOT_FOUND 2 210636889 . G . . NT END=210637817;NT GT ./. 2 210637670 rs75640079 T C 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.099;Gene=UNC80/NM_032504.1/1;CC=c.93-148T>C;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.93-148T>C;VC=Intron;DM=UNC80/UNC80 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:C,T:9:9:0:0:6,3:183,50:18.77,0.00:18.77,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:57.5,37.7:0,0:0,0:64,59:86,92:26,28:NM_032504.1(UNC80) c.93-148T>C,-:0.03,-:NOT_FOUND,- 2 210637867 . G . . NT END=210640612;NT GT ./. 2 210640770 . G . . NT END=210641981;NT GT ./. 2 210642284 . G . . NT END=210650789;NT GT ./. 2 210642473 rs10932308 A T 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.018;Gene=UNC80/NM_032504.1/1;CC=c.600+190A>T;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.600+190A>T;VC=Intron;DM=UNC80/UNC80 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:0:0:0:11,9:303,303:0.00,28.63:0.00,0.00:0.00,28.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.6,33.7:0,0:0,0:93,123:57,28:33,18:-,NM_032504.1(UNC80) c.600+190A>T:-,0.5:-,NOT_FOUND 2 210650914 . G . . NT END=210654255;NT GT ./. 2 210654330 . G . . NT END=210658443;NT GT ./. 2 210658151 rs2109852 A G 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.799-293A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.799-293A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,G:6:6:0:0:3,3:100,94:0.00,9.02:0.00,9.02:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,34.3:0,0:0,0:37,31:114,120:37,1:-,NM_032504.1(UNC80) c.799-293A>G:-,0.53:-,NOT_FOUND 2 210658584 . G . . NT END=210678303;NT GT ./. 2 210674052 rs71420773 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.994;Gene=UNC80/NM_032504.1/1;CC=c.939-4252C>T;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.939-4252C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:C,T:13:13:0:0:8,5:261,174:0.00,16.02:0.00,16.34:0.00,-0.32:0.00,0.91:0.00,0.91:0.00,0.79:60,60:8.9,42.4:0,0:0,0:40,44:111,107:27,12:-,NM_032504.1(UNC80) c.939-4252C>T:-,0.04:-,NOT_FOUND 2 210678566 . G . . NT END=210679980;NT GT ./. 2 210678691 rs2159745 T G 143 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.1200+126T>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.1200+126T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G:38:2:0:0:38:1252:143.22:3.73:139.49:1.00:1.00:1.00:60:46.8:0:0:117:33:22:NM_032504.1(UNC80) c.1200+126T>G,NM_032504.1(UNC80) c.1200+126T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 210680116 . G . . NT END=210681632;NT GT ./. 2 210681850 . G . . NT END=210682535;NT GT ./. 2 210682677 . G . . NT END=210683716;NT GT ./. 2 210683986 . G . . NT END=210685034;NT GT ./. 2 210685404 . G . . NT END=210690630;NT GT ./. 2 210685582 rs13034819 A G 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.2331+179A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.2331+179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:0:0:0:9,7:262,240:0.00,22.60:0.00,0.00:0.00,22.60:0.00,0.98:0.00,0.00:0.00,0.98:60,60:39.2,40.3:0,0:0,0:110,84:41,67:21,43:-,NM_032504.1(UNC80) c.2331+179A>G:-,0.43:-,NOT_FOUND 2 210690778 . G . . NT END=210693955;NT GT ./. 2 210691028 rs2109853 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.002;Gene=UNC80/NM_032504.1/1;CC=c.2478+251A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.2463+266A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:163:19.12:0.00:19.12:1.00:0.00:1.00:60:63.8:0:0:81:69:25:NM_032504.1(UNC80) c.2478+251A>G,NM_032504.1(UNC80) c.2478+251A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 210694104 . G . . NT END=210696166;NT GT ./. 2 210696316 . G . . NT END=210698725;NT GT ./. 2 210698893 . G . . NT END=210699635;NT GT ./. 2 210699735 . G . . NT END=210703945;NT GT ./. 2 210704161 . G . . NT END=210705265;NT GT ./. 2 210704200 rs9288414 C A 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.3256+40C>A;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.3241+40C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:59:17:0:0:27,32:826,1022:77.77,0.00:13.50,0.00:64.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,11.7:0,0:0,0:119,100:32,50:22,23:NM_032504.1(UNC80) c.3256+40C>A,-:0.12,-:0.15703,- 2 210705348 rs10178675 C G 80 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.307;Gene=UNC80/NM_032504.1/1;CC=c.3339C>G;ProtCh=p.L1113=;VC=Silent;Gene=UNC80/NM_182587.3/0;CC=c.3324C>G;ProtCh=p.L1108=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:61:47:0:0:35,25,1:1196,853,9:0.00,79.53,-0.13:0.00,37.65,-0.01:0.00,41.87,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:3.0,37.2,106.0:0,0,0:0,0,0:84,95,112:60,52,38:22,21,0:-,NM_032504.1(UNC80) c.3339C>G (p.(=)):-,0.14:-,0.178055 2 210705373 . G . . NT END=210707073;NT GT ./. 2 210707171 . G . . NT END=210714174;NT GT ./. 2 210714162 rs2191906 A G 126 nt VT=SNV;PN=C;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.004;Gene=UNC80/NM_032504.1/1;CC=c.3461-13A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.3446-13A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:74:0:0:45,43:1411,1320:0.00,125.89:0.00,86.07:0.00,39.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,38.1:0,0:0,0:48,47:97,92:23,23:-,NM_032504.1(UNC80) c.3461-13A>G:-,0.14:-,0.196757 2 210714348 . G . . NT END=210737481;NT GT ./. 2 210737363 rs16843880 T A 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.001;Gene=UNC80/NM_032504.1/1;CC=c.3634-119T>A;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.3619-119T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:30:30:0:0:17,13:509,417:50.07,0.00:50.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.1,16.1:0,0:0,0:58,46:93,104:33,22:NM_032504.1(UNC80) c.3634-119T>A,-:0.13,-:NOT_FOUND,- 2 210737695 . G . . NT END=210742677;NT GT ./. 2 210737831 rs7581628 A G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.3846+137A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.3831+137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,G:14:0:0:0:9,5:256,172:0.00,15.64:0.00,0.00:0.00,15.64:0.00,0.90:0.00,0.00:0.00,0.90:60,60:50.1,58.0:0,0:0,0:95,115:56,34:33,24:-,NM_032504.1(UNC80) c.3846+137A>G:-,0.13:-,NOT_FOUND 2 210742814 . G . . NT END=210745684;NT GT ./. 2 210745459 rs118027642 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=7;Gene=UNC80/NM_032504.1/1;CC=c.3983-226G>A;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.3968-226G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:12:12:0:0:4,8:134,260:11.99,0.00:11.99,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:60,60:33.5,1.8:0,0:0,0:85,24:65,125:15,18:NM_032504.1(UNC80) c.3983-226G>A,-:0.0041,-:NOT_FOUND,- 2 210745681 rs2370838 C A 291 nt VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.3983-4C>A;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.3968-4C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:61:0:0:78:2539:290.99:196.22:94.76:1.00:1.00:1.00:60:41.6:0:0:63:85:41:NM_032504.1(UNC80) c.3983-4C>A,NM_032504.1(UNC80) c.3983-4C>A:0.99,0.99:0.982041,0.982041 2 210745819 . G . . NT END=210752818;NT GT ./. 2 210745855 rs17748818 C T 76 nt VT=SNV;PN=T;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.4116+37C>T;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.4101+37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:20:0:0:32,25:1010,815:0.00,76.46:0.00,15.95:0.00,60.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,37.4:0,0:0,0:115,104:33,42:22,31:-,NM_032504.1(UNC80) c.4116+37C>T:-,0.08:-,0.109505 2 210752985 . G . . NT END=210758886;NT GT ./. 2 210759091 . G . . NT END=210761036;NT GT ./. 2 210761138 . G . . NT END=210769488;NT GT ./. 2 210769690 . G . . NT END=210777283;NT GT ./. 2 210777392 . G . . NT END=210778525;NT GT ./. 2 210777574 rs10166289 T G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.4692+183T>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.4677+183T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:G,T:11:0:0:0:5,6:174,191:16.49,0.00:0.00,0.00:16.49,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:48.2,11.0:0,0:0,0:74,125:76,25:19,20:NM_032504.1(UNC80) c.4692+183T>G,-:0.14,-:NOT_FOUND,- 2 210778665 . G . . NT END=210782500;NT GT ./. 2 210782683 . G . . NT END=210783255;NT GT ./. 2 210783388 . G . . NT END=210786223;NT GT ./. 2 210786137 rs9288415 G A 121 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=957;Gene=UNC80/NM_032504.1/1;CC=c.5146-87G>A;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.5131-87G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A,C:33:32:0:0:32,1:1065,12:121.29,0.36:107.67,0.36:13.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,62.0:0,0:0,0:56,26:94,124:26,0:NM_032504.1(UNC80) c.5146-87G>A,NM_032504.1(UNC80) c.5146-87G>A:1,1:NOT_FOUND,NOT_FOUND 2 210786411 . G . . NT END=210786975;NT GT ./. 2 210787108 . G . . NT END=210791566;NT GT ./. 2 210787468 rs4490116 T C 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=17;PC=0.003;Gene=UNC80/NM_032504.1/1;CC=c.5464+361T>C;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.5449+361T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:103:12.15:0.00:12.15:1.00:0.00:1.00:60:38.0:0:0:84:64:19:NM_032504.1(UNC80) c.5464+361T>C,NM_032504.1(UNC80) c.5464+361T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 210791711 . G . . NT END=210794594;NT GT ./. 2 210794696 . G . . NT END=210795691;NT GT ./. 2 210795779 . G . . NT END=210798545;NT GT ./. 2 210798730 . G . . NT END=210800437;NT GT ./. 2 210800533 . G . . NT END=210801567;NT GT ./. 2 210801658 . G . . NT END=210802252;NT GT ./. 2 210802355 . G . . NT END=210804195;NT GT ./. 2 210804377 . G . . NT END=210805944;NT GT ./. 2 210804438 rs537883910 T A 47 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=2;PC=0.002;Gene=UNC80/NM_032504.1/1;CC=c.6448+62T>A;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.6433+62T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:46:8:0:0:18,28:515,873:46.68,0.00:0.61,0.00:46.08,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:38.0,4.0:0,0:0,0:110,106:39,44:24,27:NM_032504.1(UNC80) c.6448+62T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 210806214 . G . . NT END=210808103;NT GT ./. 2 210808239 . G . . NT END=210809774;NT GT ./. 2 210809914 . G . . NT END=210810570;NT GT ./. 2 210810668 . G . . NT END=210818823;NT GT ./. 2 210818995 . G . . NT END=210822367;NT GT ./. 2 210819095 rs74465551 A G 55 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.7259+101A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.7244+101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:1:0:0:24,19:773,584:0.00,54.62:0.00,2.02:0.00,52.61:0.00,1.00:0.00,0.63:0.00,1.00:60,60:9.2,42.8:0,0:0,0:119,120:31,21:16,25:-,NM_032504.1(UNC80) c.7259+101A>G:-,0.04:-,NOT_FOUND 2 210822461 . G . . NT END=210823842;NT GT ./. 2 210823879 . G . . NT END=210824212;NT GT ./. 2 210824432 . G . . NT END=210832160;NT GT ./. 2 210832362 . G . . NT END=210834491;NT GT ./. 2 210834616 . G . . NT END=210835555;NT GT ./. 2 210835682 . G . . NT END=210836924;NT GT ./. 2 210837049 . G . . NT END=210837787;NT GT ./. 2 210837995 . G . . NT END=210840842;NT GT ./. 2 210841028 . G . . NT END=210841636;NT GT ./. 2 210841803 . G . . NT END=210843252;NT GT ./. 2 210843383 rs2075117 G A 217 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=171;DB;DBA=NA;PAF=NA;PC=1.000;Gene=UNC80/NM_032504.1/1;CC=c.8871G>A;ProtCh=p.Q2957=;VC=Silent;Gene=UNC80/NM_182587.3/0;CC=c.8856G>A;ProtCh=p.Q2952=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:171:126:0:0:74,96,1:2326,3366,10:217.30,0.00,-0.19:100.70,0.00,-0.13:116.60,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.8,2.8,65.0:0,0,0:0,0,0:68,87,123:58,60,28:34,28,0:NM_032504.1(UNC80) c.8871G>A (p.(=)),-:0.65,-:0.627464,- 2 210843433 . G . . NT END=210846902;NT GT ./. 2 210843662 rs6435548 T C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.216;Gene=UNC80/NM_032504.1/1;CC=c.8920+230T>C;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.8905+230T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:1:0:0:8:250:28.81:3.88:24.94:1.00:1.00:1.00:60:44.8:0:0:96:53:49:NM_032504.1(UNC80) c.8920+230T>C,NM_032504.1(UNC80) c.8920+230T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 2 210843718 rs34678259 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.8920+286G>A;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.8905+286G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:1:0:0:3,1:98,35:10.25,0.00:3.75,0.00:6.50,0.00:0.85,0.00:0.83,0.00:0.99,0.00:60,60:65.3,32.0:0,0:0,0:89,83:62,68:16,0:NM_032504.1(UNC80) c.8920+286G>A,-:0.03,-:NOT_FOUND,- 2 210846713 rs2723220 C T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.8921-190C>T;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.8906-190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:20:0:0:11,9:349,287:0.00,27.03:0.00,27.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:35.4,70.6:0,0:0,0:48,29:103,122:32,17:-,NM_032504.1(UNC80) c.8921-190C>T:-,0.43:-,NOT_FOUND 2 210846714 rs2723221 A G 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.8921-189A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.8906-189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G,T:20:20:0:0:19,1:557,12:64.29,0.50:64.29,0.50:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.2,89.0:0,0:0,0:40,120:108,30:22,0:NM_032504.1(UNC80) c.8921-189A>G,NM_032504.1(UNC80) c.8921-189A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 210846867 rs2723222 A G 108 nt VT=SNV;PN=T;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=UNC80/NM_032504.1/1;CC=c.8921-36A>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.8906-36A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:67:57:0:0:32,1,34:1041,10,1118:0.00,-0.07,108.16:0.00,-0.01,75.26:0.00,-0.06,32.90:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.2,139.0,45.8:0,0,0:0,0,0:58,34,46:90,97,99:27,0,30:-,NM_032504.1(UNC80) c.8921-36A>G:-,0.46:-,0.445466 2 210847042 . G . . NT END=210849579;NT GT ./. 2 210849637 . G . . NT END=210856889;NT GT ./. 2 210856601 rs13017752 T G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.037;Gene=UNC80/NM_032504.1/1;CC=c.9117-289T>G;VC=Intron;Gene=UNC80/NM_182587.3/0;CC=c.9045-289T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:34.5:0:0:17:132:8:NM_032504.1(UNC80) c.9117-289T>G,NM_032504.1(UNC80) c.9117-289T>G:0.07,0.07:NOT_FOUND,NOT_FOUND 2 210856972 . G . . NT END=210858038;NT GT ./. 2 210858151 . G . . NT END=210858788;NT GT ./. 2 210858989 . G . . NT END=210860052;NT GT ./. 2 210860320 . T . . NT END=210867385;NT GT ./. 2 210860556 rs2539862 G C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.107;Gene=UNC80/NM_032504.1/1;CC=c.*237G>C;VC=3UTR;Gene=UNC80/NM_182587.3/0;CC=c.*237G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,G:8:0:0:0:5,3:114,96:11.36,0.00:0.00,0.00:11.36,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:58.2,0.0:0,0:0,0:105,143:38,8:21,6:NM_032504.1(UNC80) c.*237G>C,-:0.38,-:NOT_FOUND,- 2 210867165 rs2539866 C G 85 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:21:0:0:22:743:84.76:80.78:3.98:1.00:1.00:1.00:60:38.2:0:0:42:107:25:NM_199229.1(RPE) c.-5-u216C>G,NM_199229.1(RPE) c.-5-u216C>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 210867508 . G . . NT END=210868161;NT GT ./. 2 210868193 . G . . NT END=210874380;NT GT ./. 2 210874461 . G . . NT END=210880696;NT GT ./. 2 210880492 rs2723211 G A 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=RPE/NM_001278282.1/0;CC=c.-2-205G>A;VC=Intron;Gene=RPE/NM_001278283.1/1;CC=c.-2-205G>A;VC=Intron;Gene=RPE/NM_001278285.1/0;CC=c.203-205G>A;VC=Intron;Gene=RPE/NM_001278286.1/0;CC=c.-2-205G>A;VC=Intron;Gene=RPE/NM_001278288.1/0;CC=c.-2-205G>A;VC=Intron;Gene=RPE/NM_001278289.1/0;CC=c.203-205G>A;VC=Intron;Gene=RPE/NM_006916.2/0;CC=c.-2-205G>A;VC=Intron;Gene=RPE/NM_199229.2/0;CC=c.203-205G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,G:13:13:0:0:4,9:123,278:10.73,0.00:10.73,0.00:0.00,0.00:0.79,0.00:0.79,0.00:0.00,0.00:60,60:44.0,20.7:0,0:0,0:46,45:83,104:23,36:NM_199229.1(RPE) c.203-205G>A,-:0.4,-:NOT_FOUND,- 2 210880837 . G . . NT END=210880927;NT GT ./. 2 210880982 . G . . NT END=210881230;NT GT ./. 2 210881366 . G . . NT END=210882196;NT GT ./. 2 210882141 . A C 7 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;Gene=RPE/NM_001278282.1/0;CC=c.328-56A>C;VC=Intron;Gene=RPE/NM_001278283.1/1;CC=c.328-56A>C;VC=Intron;Gene=RPE/NM_001278285.1/0;CC=c.477+776A>C;VC=Intron;Gene=RPE/NM_001278286.1/0;CC=c.274-56A>C;VC=Intron;Gene=RPE/NM_001278288.1/0;CC=c.274-56A>C;VC=Intron;Gene=RPE/NM_001278289.1/0;CC=c.478-56A>C;VC=Intron;Gene=RPE/NM_006916.2/0;CC=c.328-56A>C;VC=Intron;Gene=RPE/NM_199229.2/0;CC=c.478-56A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,C:13:7:0:0:9,4:167,85:0.00,6.93:0.00,7.95:0.00,-1.02:0.00,0.79:0.00,0.90:0.00,0.90:60,60:17.6,96.5:0,0:0,0:21,109:130,8:14,13:-,NM_199229.1(RPE) c.478-56A>C:-,NOT_FOUND:-,NOT_FOUND 2 210882171 rs2075116 A T 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.990;Gene=RPE/NM_001278282.1/0;CC=c.328-26A>T;VC=Intron;Gene=RPE/NM_001278283.1/1;CC=c.328-26A>T;VC=Intron;Gene=RPE/NM_001278285.1/0;CC=c.477+806A>T;VC=Intron;Gene=RPE/NM_001278286.1/0;CC=c.274-26A>T;VC=Intron;Gene=RPE/NM_001278288.1/0;CC=c.274-26A>T;VC=Intron;Gene=RPE/NM_001278289.1/0;CC=c.478-26A>T;VC=Intron;Gene=RPE/NM_006916.2/0;CC=c.328-26A>T;VC=Intron;Gene=RPE/NM_199229.2/0;CC=c.478-26A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:11:0:0:12,17:376,537:0.00,53.26:0.00,13.10:0.00,40.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,45.6:0,0:0,0:25,20:126,131:15,11:-,NM_199229.1(RPE) c.478-26A>T:-,0.4:-,0.346148 2 210882284 . G . . NT END=210882876;NT GT ./. 2 210882456 rs2243769 G T 42 sb;idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.007;Gene=RPE/NM_001278282.1/0;CC=c.414+173G>T;VC=Intron;Gene=RPE/NM_001278283.1/1;CC=c.414+173G>T;VC=Intron;Gene=RPE/NM_001278285.1/0;CC=c.477+1091G>T;VC=Intron;Gene=RPE/NM_001278286.1/0;CC=c.360+173G>T;VC=Intron;Gene=RPE/NM_001278288.1/0;CC=c.360+173G>T;VC=Intron;Gene=RPE/NM_001278289.1/0;CC=c.564+173G>T;VC=Intron;Gene=RPE/NM_006916.2/0;CC=c.414+173G>T;VC=Intron;Gene=RPE/NM_199229.2/0;CC=c.564+173G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:1:0:1:12:363:41.99:1.65:40.34:1.00:1.00:1.00:60:47.2:5:0:116:34:26:NM_199229.1(RPE) c.564+173G>T,NM_199229.1(RPE) c.564+173G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 210882457 . CT C 13 rn VT=DEL;SST=Single;DP=12;PC=0.006;Gene=RPE/NM_001278282.1/0;CC=c.414+197delT;VC=Intron;Gene=RPE/NM_001278283.1/1;CC=c.414+197delT;VC=Intron;Gene=RPE/NM_001278285.1/0;CC=c.477+1115delT;VC=Intron;Gene=RPE/NM_001278286.1/0;CC=c.360+197delT;VC=Intron;Gene=RPE/NM_001278288.1/0;CC=c.360+197delT;VC=Intron;Gene=RPE/NM_001278289.1/0;CC=c.564+197delT;VC=Intron;Gene=RPE/NM_006916.2/0;CC=c.414+197delT;VC=Intron;Gene=RPE/NM_199229.2/0;CC=c.564+197delT;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:CT,C:12:1:0:6:7,5:219,146:0.00,13.44:0.00,-0.23:0.00,13.68:0.00,0.92:0.00,0.61:0.00,0.99:60,60:44.0,51.8:0,0:0,0:139,104:11,47:9,18:-,NM_199229.1(RPE) c.564+175delT:-,NOT_FOUND:-,NOT_FOUND 2 210882677 rs2723213 C T 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=94;Gene=RPE/NM_001278282.1/0;CC=c.414+394C>T;VC=Intron;Gene=RPE/NM_001278283.1/1;CC=c.414+394C>T;VC=Intron;Gene=RPE/NM_001278285.1/0;CC=c.477+1312C>T;VC=Intron;Gene=RPE/NM_001278286.1/0;CC=c.360+394C>T;VC=Intron;Gene=RPE/NM_001278288.1/0;CC=c.360+394C>T;VC=Intron;Gene=RPE/NM_001278289.1/0;CC=c.565-200C>T;VC=Intron;Gene=RPE/NM_006916.2/0;CC=c.414+394C>T;VC=Intron;Gene=RPE/NM_199229.2/0;CC=c.564+394C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:275:31.32:31.32:0.00:1.00:1.00:0.00:60:43.6:0:0:41:109:18:NM_199229.1(RPE) c.564+394C>T,NM_199229.1(RPE) c.564+394C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 210883120 rs369682905 CT C 26 idl,rn VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=8;Gene=RPE/NM_001278282.1/0;CC=c.414+851delT;VC=Intron;Gene=RPE/NM_001278283.1/1;CC=c.414+851delT;VC=Intron;Gene=RPE/NM_001278285.1/0;CC=c.478-1259delT;VC=Intron;Gene=RPE/NM_001278286.1/0;CC=c.360+851delT;VC=Intron;Gene=RPE/NM_001278288.1/0;CC=c.360+851delT;VC=Intron;Gene=RPE/NM_001278289.1/0;CC=c.*3+189delT;VC=Intron;Gene=RPE/NM_006916.2/0;CC=c.414+851delT;VC=Intron;Gene=RPE/NM_199229.2/0;CC=c.564+851delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:CT,I,C:73:54:10:17:54,8,11:1754,291,514:0.00,17.95,26.30:0.00,9.05,12.48:0.00,8.90,13.82:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.1,32.4,45.1:0,2,6:0,0,0:65,73,60:69,77,91:36,34,33:-,NM_199229.1(RPE) c.564+838delT:-,NOT_FOUND:-,NOT_FOUND 2 210883416 . t . . NT END=210884392;NT GT ./. 2 210884516 . A . . NT END=210887672;NT GT ./. 2 210887904 . C . . NT END=210888756;NT GT ./. 2 210888926 . C . . NT END=210889827;NT GT ./. 2 210889941 . C . . NT END=210892019;NT GT ./. 2 210889961 rs12989455 T G 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.276;Gene=KANSL1L/NM_001307976.1/0;CC=c.2326-21A>C;VC=Intron;Gene=KANSL1L/NM_152519.3/1;CC=c.2452-21A>C;VC=Intron;DM=KANSL1L/PEHE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:9:0:0:17,8:545,254:55.76,0.00:15.82,0.00:39.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,5.0:0,0:0,0:103,106:48,38:32,37:NM_152519.2(KANSL1L) c.2452-21A>C,-:0.03,-:0.057982,- 2 210892075 . C . . NT END=210893568;NT GT ./. 2 210893694 . C . . NT END=210894526;NT GT ./. 2 210894643 . C . . NT END=210896144;NT GT ./. 2 210896097 rs13009890 T A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.612;Gene=KANSL1L/NM_001307976.1/0;CC=c.2030-1455A>T;VC=Intron;Gene=KANSL1L/NM_152519.3/1;CC=c.2155+48A>T;VC=Intron;Gene=LOC101928020/NR_110291.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:19:18:0:0:7,1,11:231,16,357:21.21,0.59,0.00:13.05,0.64,0.00:8.16,-0.05,0.00:0.98,0.00,0.00:1.00,0.00,0.00:0.96,0.00,0.00:60,39,60:64.9,186.0,17.7:0,0,0:0,0,0:18,32,50:127,84,100:6,0,9:NM_152519.2(KANSL1L) c.2155+48A>T,-:0.07,-:0.085323,- 2 210896271 . C . . NT END=210905143;NT GT ./. 2 210905252 . C . . NT END=210908662;NT GT ./. 2 210908829 . C . . NT END=210940275;NT GT ./. 2 210940481 . C . . NT END=210961157;NT GT ./. 2 210961599 . A . . NT END=210961904;NT GT ./. 2 210962138 . C . . NT END=210962809;NT GT ./. 2 210962932 . C . . NT END=210968827;NT GT ./. 2 210969026 . C . . NT END=210993754;NT GT ./. 2 210993897 . C . . NT END=211018218;NT GT ./. 2 211018090 rs368253256 TA T 10 rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=11;PC=0.002;Gene=KANSL1L/NM_001307976.1/0;CC=c.1088+128delT;VC=Intron;Gene=KANSL1L/NM_152519.3/1;CC=c.1088+128delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:TA,I,T:28:28:2:4:22,2,4:662,65,125:0.00,4.46,9.56:0.00,4.46,9.56:0.00,0.00,0.00:0.00,0.00,0.66:0.00,0.00,0.66:0.00,0.00,0.00:60,60,70:29.0,0.0,22.2:0,0,0:0,0,0:39,76,13:111,74,137:37,53,7:-,NM_152519.2(KANSL1L) c.1088+128delT:-,NOT_FOUND:-,NOT_FOUND 2 211019336 . C . . NT END=211035060;NT GT ./. 2 211035131 . C . . NT END=211053684;NT GT ./. 2 211036019 rs66917529 GGCCGCCGCCGCCGCC G 40 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=136;PC=0.624;Gene=KANSL1L/NM_001307976.1/0;CC=c.-191_-177delGGCGGCGGCGGCGGC;VC=5UTR;Gene=KANSL1L/NM_152519.3/1;CC=c.-191_-177delGGCGGCGGCGGCGGC;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:GGCCGCCGCCGCCGCC,G:16:10:0:14:3,13:81,401:0.00,39.87:0.00,10.73:0.00,29.14:0.00,1.00:0.00,1.00:0.00,1.00:60,65:18.0,17.8:0,1:0,0:144,66:7,73:0,19:-,NM_152519.2(KANSL1L) c.-206GGC[5]:-,NOT_FOUND:-,NOT_FOUND 2 211049713 rs57381763 GACACACAC G 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.004;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:GACACACAC,G:3:4:0:4:1,2:29,108:0.00,6.84:0.00,6.95:0.00,-0.11:0.00,0.46:0.00,0.87:0.00,0.70:30,60:29.0,90.5:0,2:0,0:32,56:50,90:0,7:-,chr2 g.211049714_211049721delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 211053779 . C . . NT END=211057527;NT GT ./. 2 211053947 rs397687662 T TA 11 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=509;PC=0.008;Gene=ACADL/NM_001608.3/1;CC=c.1200-170dupT;VC=Intron;DM=ACADL/Acyl-CoA_dh_1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:T,TA:6:0:4:0:2,4:59,109:0.00,11.14:0.00,0.00:0.00,11.14:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,16.8:0,0:0,0:57,76:93,74:53,29:-,NM_001608.3(ACADL) c.1200-170_1200-169insT:-,NOT_FOUND:-,NOT_FOUND 2 211057615 . C . . NT END=211059934;NT GT ./. 2 211059792 rs397987617 A AT 20 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=145;PC=0.005;Gene=ACADL/NM_001608.3/1;CC=c.1112+142dupA;VC=Intron;DM=ACADL/Acyl-CoA_dh_1;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:18:18:7:0:11,7:320,222:0.00,20.33:0.00,20.33:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:8.2,1.6:0,0:0,0:68,28:83,117:47,17:-,NM_001608.3(ACADL) c.1112+142_1112+143insA:-,0.05:-,NOT_FOUND 2 211060063 . C . . NT END=211068054;NT GT ./. 2 211068169 . C . . NT END=211069304;NT GT ./. 2 211069407 . C . . NT END=211070355;NT GT ./. 2 211069438 rs263677 G A 80 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ACADL/NM_001608.3/1;CC=c.769-32C>T;VC=Intron;DM=ACADL/Acyl-CoA_dh_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:10:0:0:22:697:80.16:25.30:54.86:1.00:1.00:1.00:60:42.5:0:0:102:43:19:NM_001608.3(ACADL) c.769-32C>T,NM_001608.3(ACADL) c.769-32C>T:0.98,0.98:0.981003,0.981003 2 211070521 . C . . NT END=211074919;NT GT ./. 2 211074987 . C . . NT END=211081070;NT GT ./. 2 211081236 . C . . NT END=211082688;NT GT ./. 2 211082827 . C . . NT END=211085370;NT GT ./. 2 211082924 rs368786320 CTTAAT C 30 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=135;PC=0.292;Gene=ACADL/NM_001608.3/1;CC=c.234-103_234-99delATTAA;VC=Intron;DM=ACADL/Acyl-CoA_dh_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTAAT,C:20:3:0:10:10,10:343,308:0.00,29.55:0.00,1.24:0.00,28.31:0.00,1.00:0.00,0.89:0.00,1.00:60,60:14.2,20.0:0,0:0,0:124,113:19,35:11,5:-,NM_001608.3(ACADL) c.234-103_234-99delATTAA:-,0.08:-,NOT_FOUND 2 211085527 . C . . NT END=211089122;NT GT ./. 2 211085707 rs149256415 C T 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4;Gene=ACADL/NM_001608.3/1;CC=c.78-181G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:6:0:0:0:3,3:87,87:0.00,8.32:0.00,0.00:0.00,8.32:0.00,0.73:0.00,0.00:0.00,0.73:60,60:4.0,90.3:0,0:0,0:119,91:32,59:5,2:-,NM_001608.3(ACADL) c.78-181G>A:-,0.0018:-,NOT_FOUND 2 211089873 . C . . NT END=211089910;NT GT ./. 2 211089988 . G . . NT END=211155769;NT GT ./. 2 211155799 . C . . NT END=211158446;NT GT ./. 2 211158525 . C . . NT END=211158968;NT GT ./. 2 211158855 rs71350737 T C 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.004;Gene=MYL1/NM_079422.2/0;CC=c.346+114A>G;VC=Intron;Gene=MYL1/NM_079420.2/1;CC=c.478+114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:25:0:0:12,17:407,552:37.88,0.00:35.38,0.00:2.50,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:36.1,22.2:0,0:0,0:55,40:95,111:24,25:NM_079420.2(MYL1) c.478+114A>G,-:0.1,-:NOT_FOUND,- 2 211159143 . C . . NT END=211163143;NT GT ./. 2 211162907 rs34693593 A C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.006;Gene=MYL1/NM_079422.2/0;CC=c.172+237T>G;VC=Intron;Gene=MYL1/NM_079420.2/1;CC=c.304+237T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,C:11:11:0:0:7,4:225,135:0.00,12.28:0.00,12.28:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:12.0,50.0:0,0:0,0:30,57:121,93:16,9:-,NM_079420.2(MYL1) c.304+237T>G:-,0.1:-,NOT_FOUND 2 211162998 rs7592060 G A 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=MYL1/NM_079422.2/0;CC=c.172+146C>T;VC=Intron;Gene=MYL1/NM_079420.2/1;CC=c.304+146C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:29:0:0:16,13:444,449:43.24,0.00:43.24,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.9,10.2:0,0:0,0:31,41:120,110:13,37:NM_079420.2(MYL1) c.304+146C>T,-:0.48,-:NOT_FOUND,- 2 211163063 rs150329321 TAC T 21 rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=160;Gene=MYL1/NM_079422.2/0;CC=c.172+79_172+80delGT;VC=Intron;Gene=MYL1/NM_079420.2/1;CC=c.304+79_304+80delGT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,TAC,I,T:52:47:2:10:2,39,2,9:25,1258,62,267:0.27,0.00,3.66,21.04:0.37,0.00,2.63,15.41:-0.09,0.00,1.04,5.63:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.82:60,60,60,60:62.5,14.5,31.0,17.2:0,0,0,0:0,0,0,0:116,42,46,72:34,108,104,79:24,27,35,26:-,NM_079420.2(MYL1) c.304+79_304+80delGT:-,NOT_FOUND:-,NOT_FOUND 2 211163288 . C . . NT END=211167211;NT GT ./. 2 211163574 rs2063311 C A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.010;Gene=MYL1/NM_079422.2/0;CC=c.29-287G>T;VC=Intron;Gene=MYL1/NM_079420.2/1;CC=c.161-287G>T;VC=Intron;DM=MYL1/EF-hand_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,C:7:0:0:0:3,4:96,93:8.96,0.00:0.00,0.00:8.96,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:55.0,43.8:0,0:0,0:78,81:73,68:52,31:NM_079420.2(MYL1) c.161-287G>T,-:0.48,-:NOT_FOUND,- 2 211167240 . C . . NT END=211167491;NT GT ./. 2 211167517 . C . . NT END=211168265;NT GT ./. 2 211168202 rs13025700 A G 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=MYL1/NM_079422.2/0;CC=c.3+64T>C;VC=Intron;Gene=MYL1/NM_079420.2/1;CC=c.133-963T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:27:0:0:13,15:430,506:0.00,49.36:0.00,43.97:0.00,5.39:0.00,1.00:0.00,1.00:0.00,0.91:60,60:10.5,38.1:0,0:0,0:46,22:104,129:24,15:-,NM_079420.2(MYL1) c.133-963T>C:-,0.05:-,0.086947 2 211168340 . G . . NT END=211179634;NT GT ./. 2 211168346 rs12469767 A C 89 nt VT=SNV;PN=C;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.998;Gene=MYL1/NM_079420.2/1;CC=c.133-1107T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:68:42:0:0:39,29:1315,951:0.00,88.77:0.00,34.69:0.00,54.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,39.4:0,0:0,0:84,89:58,48:23,30:-,NM_079420.2(MYL1) c.133-1107T>G:-,0.53:-,0.507665 2 211179765 . AT A 13 rn VT=DEL;SST=Single;DP=68;NP=159;PC=1.000;Gene=MYL1/NM_079420.2/1;CC=c.1delA;ProtCh=p.M1Wfs*7;VC=FrameShiftDel;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:AT,I,A:68:35:2:7:59,2,7:1778,66,191:0.00,3.73,12.80:0.00,-0.27,4.22:0.00,4.01,8.58:0.00,0.00,0.89:0.00,0.00,0.93:0.00,0.00,0.99:60,60,60:10.6,0.0,36.0:0,0,0:0,0,0:91,80,38:59,70,102:35,44,14:-,NM_079420.2(MYL1) c.-10_1delAAAAAAAAAAAinsAAAAAAAAAA:-,NOT_FOUND:-,0.040647 2 211179767 . T . . NT END=211299210;NT GT ./. 2 211299288 . C . . NT END=211300110;NT GT ./. 2 211300184 . C . . NT END=211300939;NT GT ./. 2 211301117 . C . . NT END=211302413;NT GT ./. 2 211302597 . C . . NT END=211305321;NT GT ./. 2 211305469 . C . . NT END=211306031;NT GT ./. 2 211305658 rs2287433 G A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=LANCL1-AS1/NR_110604.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110605.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110606.1/0;VC=NonCoding;Gene=LANCL1/NM_001136574.1/0;CC=c.544-190C>T;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.544-190C>T;VC=Intron;Gene=LANCL1/NM_001136575.1/0;CC=c.544-190C>T;VC=Intron;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,G:9:2:0:0:7,2:240,58:25.27,0.00:7.24,0.00:18.04,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:35.9,23.5:0,0:0,0:73,38:77,112:29,14:NM_006055.2(LANCL1) c.544-190C>T,-:0.67,-:NOT_FOUND,- 2 211306168 . C . . NT END=211319830;NT GT ./. 2 211306295 rs4673526 T C 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=LANCL1-AS1/NR_110604.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110605.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110606.1/0;VC=NonCoding;Gene=LANCL1/NM_001136574.1/0;CC=c.408-128A>G;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.408-128A>G;VC=Intron;Gene=LANCL1/NM_001136575.1/0;CC=c.408-128A>G;VC=Intron;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:3:0:0:8,11:243,359:22.49,0.00:3.36,0.00:19.12,0.00:0.99,0.00:0.82,0.00:1.00,0.00:60,60:44.2,5.9:0,0:0,0:111,123:39,28:31,15:NM_006055.2(LANCL1) c.408-128A>G,-:0.68,-:NOT_FOUND,- 2 211306392 rs4673527 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=LANCL1-AS1/NR_110604.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110605.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110606.1/0;VC=NonCoding;Gene=LANCL1/NM_001136574.1/0;CC=c.408-225A>G;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.408-225A>G;VC=Intron;Gene=LANCL1/NM_001136575.1/0;CC=c.408-225A>G;VC=Intron;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:215:24.84:0.00:24.84:1.00:0.00:1.00:60:42.1:0:0:110:41:35:NM_006055.2(LANCL1) c.408-225A>G,NM_006055.2(LANCL1) c.408-225A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 211319824 rs2287432 T C 85 nt VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=LANCL1-AS1/NR_110604.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110605.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110606.1/0;VC=NonCoding;Gene=LANCL1/NM_001136574.1/0;CC=c.407+7A>G;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.407+7A>G;VC=Intron;Gene=LANCL1/NM_001136575.1/0;CC=c.407+7A>G;VC=Intron;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:52:0:0:28,34:903,1129:85.12,0.00:66.22,0.00:18.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,5.6:0,0:0,0:46,44:105,107:23,20:NM_006055.2(LANCL1) c.407+7A>G,-:0.69,-:0.62179,- 2 211320039 . C . . NT END=211336682;NT GT ./. 2 211320041 rs71395583 G GAA 46 idl,rn VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=103;NP=3;NP=6;PC=0.996;Gene=LANCL1-AS1/NR_110604.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110605.1/0;VC=NonCoding;Gene=LANCL1-AS1/NR_110606.1/0;VC=NonCoding;Gene=LANCL1/NM_001136574.1/0;CC=c.200-5_200-4dupTT;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.200-5_200-4dupTT;VC=Intron;Gene=LANCL1/NM_001136575.1/0;CC=c.200-5_200-4dupTT;VC=Intron;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like;DM=LANCL1/LANC_like;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GAA,D:45:25:29:6:3,19,2,16,5:60,631,26,862,182:3.35,0.00,0.68,45.86,12.01:-0.17,0.00,0.16,16.43,1.12:3.52,0.00,0.52,29.43,10.89:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:91.7,10.2,49.5,50.3,23.4:1,0,0,13,1:0,0,0,0,0:91,109,93,89,93:60,35,28,62,56:24,24,13,23,8:-,NM_006055.2(LANCL1) c.200-4_200-3insTT:-,NOT_FOUND:-,NOT_FOUND 2 211336801 . C . . NT END=211341039;NT GT ./. 2 211341137 . C . . NT END=211341343;NT GT ./. 2 211341156 rs2287418 C G 143 nt VT=SNV;PN=A;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=NA;PC=0.028;Gene=LANCL1/NM_001136574.1/0;CC=c.-16-20G>C;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.-16-20G>C;VC=Intron;Gene=LANCL1/NM_001136575.1/0;CC=c.-16-20G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:92:65:0:0:47,45:1605,1497:0.00,143.42:0.00,92.62:0.00,50.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,48.3:0,0:0,0:76,81:75,67:31,39:-,NM_006055.2(LANCL1) c.-16-20G>C:-,0.46:-,0.419499 2 211341204 rs56033100 G GC 286 nt VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2697;PC=0.001;Gene=LANCL1/NM_001136574.1/0;CC=c.-16-69dupG;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.-16-69dupG;VC=Intron;Gene=LANCL1/NM_001136575.1/0;CC=c.-16-69dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:111:G,GC:88:57:84:1:4,84:122,2531:0.00,286.02:0.00,175.75:0.00,110.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.8,23.1:0,0:0,0:147,83:3,64:0,30:NM_006055.2(LANCL1) c.-16-69_-16-68insG,NM_006055.2(LANCL1) c.-16-69_-16-68insG:1,1:NOT_FOUND,NOT_FOUND 2 211341349 rs10932334 C T 193 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=NA;Gene=LANCL1/NM_001136574.1/0;CC=c.-17+22G>A;VC=Intron;Gene=LANCL1/NM_006055.2/1;CC=c.-22G>A;VC=5UTR;Gene=LANCL1/NM_001136575.1/0;CC=c.-17+97G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:141:106:0:0:75,66:2472,2043:0.00,193.46:0.00,110.64:0.00,82.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,38.0:0,0:0,0:38,49:102,99:22,29:-,NM_006055.2(LANCL1) c.-22G>A:-,0.46:-,NOT_FOUND 2 211341500 . G . . NT END=211342173;NT GT ./. 2 211341599 rs2287417 G T 140 nt VT=SNV;PN=G;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:88:22:0:0:42,46:1386,1449:0.00,140.38:0.00,27.64:0.00,112.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,45.4:0,0:0,0:110,113:40,35:29,25:-,NM_006055.2(LANCL1) c.-164-u108C>A:-,0.45:-,NOT_FOUND 2 211341731 rs10932335 A T 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,G,T:11:0:0:0:2,1,8:66,10,265:0.00,0.44,28.08:0.00,0.00,0.00:0.00,0.44,28.08:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:0.0,76.0,44.1:0,0,0:0,0,0:123,126,106:27,24,44:19,0,21:-,NM_006055.2(LANCL1) c.-164-u240T>A:-,0.84:-,NOT_FOUND 2 211342138 rs3755182 T G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:20:18:0:0:11,9:317,306:30.96,0.00:25.12,0.00:5.84,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.7,5.6:0,0:0,0:41,34:110,117:14,18:NM_006055.2(LANCL1) c.-164-u647A>C,-:0.45,-:NOT_FOUND,- 2 211342194 . t . . NT END=211342487;NT GT ./. 2 211342491 . G . . NT END=211384432;NT GT ./. 2 211342502 rs17552879 G A 108 nt VT=SNV;PN=A;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=NA;Gene=CPS1/NM_001122633.2/0;CC=c.3+12G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:42:0:0:35,35:1120,1223:107.59,0.00:55.79,0.00:51.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,1.3:0,0:0,0:90,74:56,76:26,29:NM_006055.2(LANCL1) c.-164-u1011C>T,-:0.46,-:0.427573,- 2 211384509 . G . . NT END=211421322;NT GT ./. 2 211421452 rs3835047 A ATCT 88 PASS VT=INS;SST=Single;DP=72;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.840;Gene=CPS1/NM_001122633.2/0;CC=c.15_16insTTC;ProtCh=p.I5_K6insF;VC=InFrameIns;Gene=CPS1/NM_001875.4/1;CC=c.-4_-3insTTC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATCT:72:48:30:0:42,30:1390,948:0.00,87.87:0.00,59.37:0.00,28.50:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.0,9.0:1,0:0,0:76,68:69,81:42,27:-,NM_001875.4(CPS1) c.-4_-3insTTC:-,0.44:-,0.461489 2 211421584 . G . . NT END=211438021;NT GT ./. 2 211438132 . G . . NT END=211441069;NT GT ./. 2 211441215 . G . . NT END=211442144;NT GT ./. 2 211442235 . G . . NT END=211444437;NT GT ./. 2 211444495 . G . . NT END=211447340;NT GT ./. 2 211447434 . G . . NT END=211452781;NT GT ./. 2 211452872 . G . . NT END=211454829;NT GT ./. 2 211454959 . G . . NT END=211455523;NT GT ./. 2 211455281 rs2302911 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=CPS1/NM_001122633.2/0;CC=c.859-243A>G;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.841-243A>G;VC=Intron;DM=CPS1/GATase;DM=CPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:6:2:0:0:1,5:34,164:0.00,17.61:0.00,6.80:0.00,10.82:0.00,0.99:0.00,0.98:0.00,1.00:60,60:0.0,64.8:0,0:0,0:97,16:53,135:0,7:-,NM_001875.4(CPS1) c.841-243A>G:-,0.43:-,NOT_FOUND 2 211455342 rs2302910 T C 37 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=CPS1/NM_001122633.2/0;CC=c.859-182T>C;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.841-182T>C;VC=Intron;DM=CPS1/GATase;DM=CPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:C,T:12:9:0:0:10,2:341,64:36.52,0.00:25.43,0.00:11.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.2,0.0:0,0:0,0:48,49:101,101:23,8:NM_001875.4(CPS1) c.841-182T>C,-:0.58,-:NOT_FOUND,- 2 211455631 . G . . NT END=211456554;NT GT ./. 2 211456314 rs76925954 C T 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.065;Gene=CPS1/NM_001122633.2/0;CC=c.966-241C>T;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.948-241C>T;VC=Intron;DM=CPS1/GATase;DM=CPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:7:7:0:0:2,5:69,165:0.00,17.07:0.00,17.07:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,39.0:0,0:0,0:42,61:108,89:15,37:-,NM_001875.4(CPS1) c.948-241C>T:-,0.01:-,NOT_FOUND 2 211456637 rs1047883 A G 76 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=in-clinvar;PAF=NA;PC=0.806;Gene=CPS1/NM_001122633.2/0;CC=c.1048A>G;ProtCh=p.T350A;VC=Missense;Gene=CPS1/NM_001875.4/1;CC=c.1030A>G;ProtCh=p.T344A;VC=Missense;DM=CPS1/GATase;DM=CPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:62:43:0:0:34,1,27:993,10,818:0.00,-0.09,76.45:0.00,-0.13,40.64:0.00,0.04,35.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.1,10.0,63.6:0,0,0:0,0,0:63,59,56:86,92,93:27,0,37:-,NM_001875.4(CPS1) c.1030A>G (p.Thr344Ala):-,0.56:-,0.591727 2 211456639 rs2229589 C T 73 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=in-clinvar;PAF=NA;PC=0.998;Gene=CPS1/NM_001122633.2/0;CC=c.1050C>T;ProtCh=p.T350=;VC=Silent;Gene=CPS1/NM_001875.4/1;CC=c.1032C>T;ProtCh=p.T344=;VC=Silent;DM=CPS1/GATase;DM=CPS1/GATase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:61:42:0:0:35,1,25:1094,14,792:0.00,0.09,73.39:0.00,0.20,41.84:0.00,-0.12,31.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.3,247.0,67.4:0,0,0:0,0,0:62,104,95:88,46,55:25,0,20:-,NM_001875.4(CPS1) c.1032C>T (p.(=)):-,0.57:-,0.59757 2 211456694 . G . . NT END=211457602;NT GT ./. 2 211457681 . G . . NT END=211458078;NT GT ./. 2 211458399 . G . . NT END=211459231;NT GT ./. 2 211459331 . G . . NT END=211460210;NT GT ./. 2 211460307 . G . . NT END=211464095;NT GT ./. 2 211464286 . G . . NT END=211465278;NT GT ./. 2 211465437 . G . . NT END=211466925;NT GT ./. 2 211467055 . G . . NT END=211469825;NT GT ./. 2 211469971 . G . . NT END=211471454;NT GT ./. 2 211471666 . G . . NT END=211473084;NT GT ./. 2 211473284 . G . . NT END=211476840;NT GT ./. 2 211477018 . G . . NT END=211481146;NT GT ./. 2 211481257 rs2287599 C G 43 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=in-clinvar;PAF=NA;PC=0.275;Gene=CPS1/NM_001122633.2/0;CC=c.2697C>G;ProtCh=p.G899=;VC=Silent;Gene=CPS1/NM_001875.4/1;CC=c.2679C>G;ProtCh=p.G893=;VC=Silent;Gene=CPS1/NM_001122634.3/0;CC=c.1326C>G;ProtCh=p.G442=;VC=Silent;DM=CPS1/CPSase_L_D3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:11:0:0:14,13:473,454:0.00,43.48:0.00,14.73:0.00,28.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,35.7:0,0:0,0:104,83:46,68:27,30:-,NM_001875.4(CPS1) c.2679C>G (p.(=)):-,0.6:-,0.662233 2 211481266 . G . . NT END=211502425;NT GT ./. 2 211502568 . G . . NT END=211503873;NT GT ./. 2 211503736 rs2302908 C T 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=CPS1/NM_001122633.2/0;CC=c.2848-138C>T;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.2830-138C>T;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.1477-138C>T;VC=Intron;DM=CPS1/CPSase_L_D3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,T:13:13:0:0:4,9:128,263:0.00,27.05:0.00,27.05:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.5,30.6:0,0:0,0:66,20:83,131:19,19:-,NM_001875.4(CPS1) c.2830-138C>T:-,0.22:-,NOT_FOUND 2 211503940 . G . . NT END=211504719;NT GT ./. 2 211504065 rs13409110 G A 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.020;Gene=CPS1/NM_001122633.2/0;CC=c.2913+126G>A;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.2895+126G>A;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.1542+126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:8:0:0:0:3,5:94,121:8.54,0.00:0.00,0.00:8.54,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:37.7,31.8:0,0:0,0:20,80:131,71:11,36:NM_001875.4(CPS1) c.2895+126G>A,-:0.21,-:NOT_FOUND,- 2 211504784 . G . . NT END=211507207;NT GT ./. 2 211507390 . G . . NT END=211512586;NT GT ./. 2 211512782 . G . . NT END=211513196;NT GT ./. 2 211513067 rs146930967 C T 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=12;PC=0.907;Gene=CPS1/NM_001122633.2/0;CC=c.3355-130C>T;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3337-130C>T;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.1984-130C>T;VC=Intron;DM=CPS1/CPSase_L_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:21:0:0:12,11:299,376:0.00,35.98:0.00,32.80:0.00,3.17:0.00,1.00:0.00,1.00:0.00,0.77:60,60:39.9,57.2:0,0:0,0:64,78:86,72:27,29:-,NM_001875.4(CPS1) c.3337-130C>T:-,0.0037:-,NOT_FOUND 2 211513118 rs4673540 C T 104 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=3384;PC=1.000;Gene=CPS1/NM_001122633.2/0;CC=c.3355-79C>T;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3337-79C>T;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.1984-79C>T;VC=Intron;DM=CPS1/CPSase_L_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:29:0:0:30:901:104.28:90.96:13.32:1.00:1.00:1.00:60:47.1:0:0:59:87:40:NM_001875.4(CPS1) c.3337-79C>T,NM_001875.4(CPS1) c.3337-79C>T:1,1:NOT_FOUND,NOT_FOUND 2 211513265 . G . . NT END=211515086;NT GT ./. 2 211514995 rs34449727 G T 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.007;Gene=CPS1/NM_001122633.2/0;CC=c.3423-92G>T;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3405-92G>T;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2052-92G>T;VC=Intron;DM=CPS1/CPSase_L_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:19:0:0:9,11:289,328:0.00,32.02:0.00,26.67:0.00,5.35:0.00,1.00:0.00,1.00:0.00,0.92:60,60:32.8,42.7:0,0:0,0:56,46:95,105:34,26:-,NM_001875.4(CPS1) c.3405-92G>T:-,0.23:-,NOT_FOUND 2 211515058 rs3213784 A T 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.005;Gene=CPS1/NM_001122633.2/0;CC=c.3423-29A>T;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3405-29A>T;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2052-29A>T;VC=Intron;DM=CPS1/CPSase_L_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:22:0:0:12,14:376,450:0.00,43.90:0.00,28.12:0.00,15.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.5,40.3:0,0:0,0:79,45:69,91:26,31:-,NM_001875.4(CPS1) c.3405-29A>T:-,0.41:-,0.357527 2 211515163 . G . . NT END=211518748;NT GT ./. 2 211518827 . G . . NT END=211521248;NT GT ./. 2 211521227 rs58225253 CT C 47 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=103;PC=0.316;Gene=CPS1/NM_001122633.2/0;CC=c.3577-7delT;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3559-7delT;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2206-7delT;VC=Intron;DM=CPS1/CPSase_L_D2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:27:28:0:20:12,15:377,640:0.00,46.62:0.00,32.53:0.00,14.09:0.00,1.00:0.00,1.00:0.00,0.99:60,60:37.5,34.1:0,5:0,0:122,32:17,112:26,17:-,NM_001875.4(CPS1) c.3559-21delT:-,NOT_FOUND:-,NOT_FOUND 2 211521357 . G . . NT END=211523322;NT GT ./. 2 211521417 rs71044002 G GT 7 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=4;Gene=CPS1/NM_001122633.2/0;CC=c.3684+77dupT;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3666+77dupT;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2313+77dupT;VC=Intron;DM=CPS1/CPSase_L_D2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,T,GT,D:20:1:4:1:14,2,3,1:439,20,112,29:0.00,0.47,6.96,1.76:0.00,-0.02,-0.03,-0.01:0.00,0.50,7.00,1.77:0.00,0.00,0.49,0.00:0.00,0.00,0.43,0.00:0.00,0.00,0.49,0.00:60,60,60,60:4.8,47.5,49.3,14.0:0,0,1,0:0,0,0,0:134,88,67,18:11,44,80,131:12,36,20,0:-,NM_001875.4(CPS1) c.3666+61_3666+62insT:-,NOT_FOUND:-,NOT_FOUND 2 211523163 rs2287598 A G 43 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=CPS1/NM_001122633.2/0;CC=c.3685-160A>G;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3667-160A>G;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2314-160A>G;VC=Intron;DM=CPS1/CPSase_L_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:12:0:0:12:372:42.87:42.87:0.00:1.00:1.00:0.00:60:45.0:0:0:46:97:21:NM_001875.4(CPS1) c.3667-160A>G,NM_001875.4(CPS1) c.3667-160A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 211523413 . G . . NT END=211525208;NT GT ./. 2 211523457 rs6435580 C T 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=CPS1/NM_001122633.2/0;CC=c.3774+45C>T;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3756+45C>T;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2403+45C>T;VC=Intron;DM=CPS1/CPSase_L_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:13:0:0:17,17:547,557:0.00,53.56:0.00,14.94:0.00,38.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,37.5:0,0:0,0:101,111:48,36:17,26:-,NM_001875.4(CPS1) c.3756+45C>T:-,0.18:-,0.255728 2 211525380 . G . . NT END=211527846;NT GT ./. 2 211527827 rs5838215 GT G 122 idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=821;Gene=CPS1/NM_001122633.2/0;CC=c.3946-8delT;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.3928-8delT;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2575-8delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:GT,T,G:38:31:0:37:3,1,34:76,25,1194:0.00,1.34,121.98:0.00,1.35,65.74:0.00,-0.01,56.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.0,175.0,17.4:0,0,3:0,0,0:111,150,49:40,1,102:20,0,24:NM_001875.4(CPS1) c.3928-19delT,NM_001875.4(CPS1) c.3928-19delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 211527922 . G . . NT END=211532909;NT GT ./. 2 211533009 . G . . NT END=211539625;NT GT ./. 2 211533070 rs10932347 A G 113 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=CPS1/NM_001122633.2/0;CC=c.4119+62A>G;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.4101+62A>G;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2748+62A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:30:3:0:0:30:990:113.28:8.84:104.44:1.00:1.00:1.00:60:36.7:0:0:97:53:33:NM_001875.4(CPS1) c.4101+62A>G,NM_001875.4(CPS1) c.4101+62A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 211539363 rs4325692 A G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CPS1/NM_001122633.2/0;CC=c.4120-263A>G;VC=Intron;Gene=CPS1/NM_001875.4/1;CC=c.4102-263A>G;VC=Intron;Gene=CPS1/NM_001122634.3/0;CC=c.2749-263A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:170:19.38:19.38:0.00:1.00:1.00:0.00:60:42.4:0:0:23:127:16:NM_001875.4(CPS1) c.4102-263A>G,NM_001875.4(CPS1) c.4102-263A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 2 211539686 . G . . NT END=211540451;NT GT ./. 2 211540507 rs1047891 C A 48 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=in-clinvar;PAF=NA;PC=0.977;Gene=CPS1/NM_001122633.2/0;CC=c.4235C>A;ProtCh=p.T1412N;VC=Missense;Gene=CPS1/NM_001875.4/1;CC=c.4217C>A;ProtCh=p.T1406N;VC=Missense;Gene=CPS1/NM_001122634.3/0;CC=c.2864C>A;ProtCh=p.T955N;VC=Missense;DM=CPS1/MGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:23:0:0:16,21:516,685:48.25,0.00:11.40,0.00:36.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,9.9:0,0:0,0:80,76:58,70:22,23:NM_001875.4(CPS1) c.4217C>A (p.Thr1406Asn),-:0.27,-:0.329156,- 2 211540565 . G . . NT END=211541730;NT GT ./. 2 211541861 . G . . NT END=211542610;NT GT ./. 2 211542710 . A . . NT END=212248339;NT GT ./. 2 211908142 rs62177999 T TACACAC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;NP=3;NP=47;NP=67;NP=9;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TACACAC:4:4:3:0:1,3:34,100:0.00,10.45:0.00,8.58:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,3.0:0,0:0,0:135,73:15,72:0,5:-,chr2 g.211908142_211908143insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 211958746 rs5011232 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=239 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,G:4:3:0:0:1,3:27,102:0.00,10.65:0.00,3.50:0.00,7.15:0.00,0.85:0.00,0.99:0.00,0.85:60,70:12.0,54.0:0,0:0,0:44,34:107,117:0,19:-,chr2 g.211958745A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 212028814 rs71047152 GAC G 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=55;PC=0.001;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:GAC,G:4:5:0:3:2,2:57,101:0.00,6.42:0.00,6.42:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.70:60,60:5.5,0.0:0,1:0,0:76,34:65,83:42,23:-,chr2 g.212028815_212028816delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 212163763 rs17692845 T A 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,T:7:4:0:0:3,4:95,137:8.85,0.00:5.75,0.00:3.10,0.00:0.69,0.00:0.89,0.00:0.89,0.00:60,60:36.0,0.0:0,0:0,0:38,71:113,79:1,10:chr2 g.212163762T>A (intergenic),-:0.3,-:NOT_FOUND,- 2 212248786 . C . . NT END=212251577;NT GT ./. 2 212251876 . C . . NT END=212252669;NT GT ./. 2 212252718 . C . . NT END=212285165;NT GT ./. 2 212285337 . C . . NT END=212286731;NT GT ./. 2 212286830 . C . . NT END=212288879;NT GT ./. 2 212289027 . C . . NT END=212293132;NT GT ./. 2 212293209 . C . . NT END=212295669;NT GT ./. 2 212295590 rs199577245 G GT 66 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1772;Gene=ERBB4/NM_001042599.1/0;CC=c.2643+79dupA;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.2643+79dupA;VC=Intron;DM=ERBB4/Pkinase_Tyr;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:GT:18:16:18:0:18:572:65.78:52.91:12.87:1.00:1.00:1.00:60:1.3:0:0:43:107:16:NM_005235.2(ERBB4) c.2643+79_2643+80insA,NM_005235.2(ERBB4) c.2643+79_2643+80insA:0.31,0.31:NOT_FOUND,NOT_FOUND 2 212295826 . C . . NT END=212426627;NT GT ./. 2 212295875 rs6710946 C T 172 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.048;Gene=ERBB4/NM_001042599.1/0;CC=c.2488-50G>A;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.2488-50G>A;VC=Intron;DM=ERBB4/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:25:0:0:47:1499:172.30:54.71:117.58:1.00:1.00:1.00:60:40.0:0:0:86:42:27:NM_005235.2(ERBB4) c.2488-50G>A,NM_005235.2(ERBB4) c.2488-50G>A:0.76,0.76:0.782836,0.782836 2 212426814 . C . . NT END=212483901;NT GT ./. 2 212484001 . C . . NT END=212488646;NT GT ./. 2 212488770 . C . . NT END=212495186;NT GT ./. 2 212488870 rs76332141 G GC 171 nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3088;Gene=ERBB4/NM_001042599.1/0;CC=c.2080-102_2080-101insG;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.2080-102_2080-101insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G,GC:53:12:50:0:3,50:89,1524:0.00,171.19:0.00,20.57:0.00,150.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:53.3,9.2:0,0:0,0:146,89:4,61:1,30:NM_005235.2(ERBB4) c.2080-102_2080-101insG,NM_005235.2(ERBB4) c.2080-102_2080-101insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 212495320 . C . . NT END=212522478;NT GT ./. 2 212495336 rs112581570 G GA 11 rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=2;NP=40;PC=0.004;Gene=ERBB4/NM_001042599.1/0;CC=c.1947-18dupT;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1947-18dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:G,GA,D:43:19:5:3:35,5,3:1106,153,89:0.00,11.14,5.77:0.00,4.73,2.92:0.00,6.41,2.85:0.00,0.75,0.00:0.00,0.82,0.00:0.00,0.96,0.00:60,60,60:17.9,16.8,8.0:0,0,0:0,0,0:101,125,98:39,26,52:30,4,4:-,NM_005235.2(ERBB4) c.1947-18_1947-17insT:-,NOT_FOUND:-,NOT_FOUND 2 212522554 . C . . NT END=212522674;NT GT ./. 2 212522720 . C . . NT END=212530047;NT GT ./. 2 212529036 rs72945016 T A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.022;Gene=ERBB4/NM_001042599.1/0;CC=c.1871+1012A>T;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1871+1012A>T;VC=Intron;DM=ERBB4/GF_recep_IV;DM=ERBB4/GF_recep_IV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:140:15.91:11.83:4.08:1.00:1.00:1.00:60:43.2:0:0:27:92:21:NM_005235.2(ERBB4) c.1871+1012A>T,NM_005235.2(ERBB4) c.1871+1012A>T:0.06,0.06:NOT_FOUND,NOT_FOUND 2 212529052 rs532218608 A ATGTG 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2;NP=3;PC=0.001;Gene=ERBB4/NM_001042599.1/0;CC=c.1871+995_1871+996insCACA;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1871+995_1871+996insCACA;VC=Intron;DM=ERBB4/GF_recep_IV;DM=ERBB4/GF_recep_IV;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,ATGTG:4:4:3:0:1,3:34,101:0.00,10.55:0.00,6.80:0.00,3.75:0.00,0.85:0.00,0.85:0.00,0.95:60,60:68.0,35.0:0,0:0,0:106,25:31,87:0,5:-,NM_005235.2(ERBB4) c.1871+995_1871+996insCACA:-,NOT_FOUND:-,NOT_FOUND 2 212530203 . C . . NT END=212537888;NT GT ./. 2 212530514 rs72945020 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ERBB4/NM_001042599.1/0;CC=c.1717-312A>G;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1717-312A>G;VC=Intron;DM=ERBB4/GF_recep_IV;DM=ERBB4/GF_recep_IV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:104:12.30:0.00:12.30:1.00:0.00:1.00:60:39.2:0:0:137:13:9:NM_005235.2(ERBB4) c.1717-312A>G,NM_005235.2(ERBB4) c.1717-312A>G:0.05,0.05:NOT_FOUND,NOT_FOUND 2 212537983 . C . . NT END=212543776;NT GT ./. 2 212543691 rs71054127 C CA 23 idl,rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.995;Gene=ERBB4/NM_001042599.1/0;CC=c.1622+85_1622+86insT;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1622+85_1622+86insT;VC=Intron;DM=ERBB4/GF_recep_IV;DM=ERBB4/GF_recep_IV;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:22:27:10:4:1,12,8,1:32,370,323,127:2.05,0.00,23.47,2.05:2.05,0.00,23.47,2.05:0.00,0.00,0.00,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.00,0.00:60,60,60,60:56.0,39.7,41.4,38.0:0,0,2,3:0,0,0,0:0,97,37,27:150,49,113,124:0,22,24,11:-,NM_005235.2(ERBB4) c.1622+85_1622+86insT:-,NOT_FOUND:-,NOT_FOUND 2 212543910 . C . . NT END=212566691;NT GT ./. 2 212544026 rs67647157 CT C 87 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=229;PC=0.041;Gene=ERBB4/NM_001042599.1/0;CC=c.1490-118delA;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1490-118delA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:CT,C:26:3:0:25:1,25:29,767:0.00,86.78:0.00,2.39:0.00,84.38:0.00,1.00:0.00,1.00:0.00,1.00:60,70:217.0,8.5:0,0:0,0:127,90:3,61:0,36:NM_005235.2(ERBB4) c.1490-118delA,NM_005235.2(ERBB4) c.1490-118delA:0.07,0.07:NOT_FOUND,NOT_FOUND 2 212546762 rs10179515 C G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ERBB4/NM_001042599.1/0;CC=c.1490-2853G>C;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1490-2853G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G,T:6:5:0:0:5,1:174,9:19.39,0.63:15.49,0.00:3.90,0.63:0.99,0.00:1.00,0.00:1.00,0.00:60,60:55.8,116.0:0,0:0,0:26,69:98,82:22,0:NM_005235.2(ERBB4) c.1490-2853G>C,NM_005235.2(ERBB4) c.1490-2853G>C:0.43,0.43:NOT_FOUND,NOT_FOUND 2 212546775 rs374640859 T TCACACA 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=8;PC=0.004;Gene=ERBB4/NM_001042599.1/0;CC=c.1490-2867_1490-2866insTGTGTG;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1490-2867_1490-2866insTGTGTG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TCACACA:5:5:4:0:2,3:68,125:0.00,9.03:0.00,4.96:0.00,4.06:0.00,0.73:0.00,0.96:0.00,0.51:60,60:68.0,86.3:0,1:0,0:68,50:43,101:29,24:-,NM_005235.2(ERBB4) c.1490-2867_1490-2866insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 212556327 . GTA G 13 nt VT=DEL;SST=Single;DP=6;NP=30;Gene=ERBB4/NM_001042599.1/0;CC=c.1489+10363_1489+10364delTA;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1489+10363_1489+10364delTA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:GTA,G:6:3:0:5:2,4:69,129:0.00,13.15:0.00,8.65:0.00,4.50:0.00,0.93:0.00,0.97:0.00,0.99:60,60:38.5,5.0:0,0:0,0:103,115:30,34:34,16:-,NM_005235.2(ERBB4) c.1489+10363_1489+10364delTA:-,NOT_FOUND:-,NOT_FOUND 2 212556331 rs76260338 A G 12 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=18;Gene=ERBB4/NM_001042599.1/0;CC=c.1489+10361T>C;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1489+10361T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:6:3:0:1:2,4:67,115:0.00,11.71:0.00,7.06:0.00,4.65:0.00,0.93:0.00,0.97:0.00,0.99:60,60:38.5,5.0:0,4:0,0:107,130:26,18:34,3:-,NM_005235.2(ERBB4) c.1489+10361T>C:-,NOT_FOUND:-,NOT_FOUND 2 212566892 . C . . NT END=212568828;NT GT ./. 2 212568920 . C . . NT END=212570042;NT GT ./. 2 212569828 rs9288438 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.028;Gene=ERBB4/NM_001042599.1/0;CC=c.1198+215G>A;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1198+215G>A;VC=Intron;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:168:19.18:15.36:3.83:1.00:1.00:1.00:60:63.0:0:0:93:58:32:NM_005235.2(ERBB4) c.1198+215G>A,NM_005235.2(ERBB4) c.1198+215G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 2 212569879 rs10221746 T C 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ERBB4/NM_001042599.1/0;CC=c.1198+164A>G;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1198+164A>G;VC=Intron;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:6:4:0:0:5,1:164,34:17.61,0.00:10.21,0.00:7.40,0.00:0.99,0.00:1.00,0.00:0.98,0.00:60,60:85.6,33.0:0,0:0,0:112,8:39,143:30,0:NM_005235.2(ERBB4) c.1198+164A>G,-:0.25,-:NOT_FOUND,- 2 212569924 rs10221615 G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ERBB4/NM_001042599.1/0;CC=c.1198+119C>T;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1198+119C>T;VC=Intron;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:8:8:0:0:5,3:171,95:17.19,0.00:17.19,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:107.8,33.3:0,0:0,0:33,30:117,121:20,6:NM_005235.2(ERBB4) c.1198+119C>T,-:0.19,-:NOT_FOUND,- 2 212569983 rs6723705 G A 63 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.040;Gene=ERBB4/NM_001042599.1/0;CC=c.1198+60C>T;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1198+60C>T;VC=Intron;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:16:0:0:17:553:63.41:53.86:9.54:1.00:1.00:1.00:60:70.6:0:0:33:118:27:NM_005235.2(ERBB4) c.1198+60C>T,NM_005235.2(ERBB4) c.1198+60C>T:0.42,0.42:0.572492,0.572492 2 212569994 rs74395874 A T 26 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.687;Gene=ERBB4/NM_001042599.1/0;CC=c.1198+49T>A;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.1198+49T>A;VC=Intron;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:16:0:0:8,9:255,271:0.00,26.24:0.00,27.06:0.00,-0.82:0.00,1.00:0.00,1.00:0.00,0.95:60,60:32.9,103.9:0,0:0,0:48,56:102,95:24,35:-,NM_005235.2(ERBB4) c.1198+49T>A:-,0.05:-,0.040065 2 212570117 . C . . NT END=212576774;NT GT ./. 2 212576902 . C . . NT END=212578259;NT GT ./. 2 212576980 rs12994961 T C 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ERBB4/NM_001042599.1/0;CC=c.998-79A>G;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.998-79A>G;VC=Intron;DM=ERBB4/Furin-like;DM=ERBB4/Furin-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:12:0:0:19,13:659,431:65.58,0.00:10.97,0.00:54.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,9.8:0,0:0,0:92,110:58,40:32,17:NM_005235.2(ERBB4) c.998-79A>G,-:0.07,-:NOT_FOUND,- 2 212577157 rs72946542 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ERBB4/NM_001042599.1/0;CC=c.998-256T>C;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.998-256T>C;VC=Intron;DM=ERBB4/Furin-like;DM=ERBB4/Furin-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G:4:0:0:0:1,3:36,92:0.00,9.65:0.00,0.00:0.00,9.65:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,49.3:0,0:0,0:89,81:61,70:0,24:-,NM_005235.2(ERBB4) c.998-256T>C:-,0.05:-,NOT_FOUND 2 212578374 . C . . NT END=212587117;NT GT ./. 2 212587260 . C . . NT END=212589800;NT GT ./. 2 212587321 rs13002712 G A 184 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ERBB4/NM_001042599.1/0;CC=c.742-62C>T;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.742-62C>T;VC=Intron;DM=ERBB4/Furin-like;DM=ERBB4/Furin-like GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A:51:20:0:0:51:1593:183.59:49.65:133.94:1.00:1.00:1.00:60:35.2:0:0:103:45:30:NM_005235.2(ERBB4) c.742-62C>T,NM_005235.2(ERBB4) c.742-62C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 2 212589920 . C . . NT END=212615363;NT GT ./. 2 212590228 rs11387242 T TG 25 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=72;Gene=ERBB4/NM_001042599.1/0;CC=c.623-310_623-309insC;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.623-310_623-309insC;VC=Intron;DM=ERBB4/Furin-like;DM=ERBB4/Furin-like;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:TG:7:0:7:0:7:215:24.84:0.00:24.84:1.00:0.00:1.00:60:9.9:0:0:94:57:33:NM_005235.2(ERBB4) c.623-310_623-309insC,NM_005235.2(ERBB4) c.623-310_623-309insC:0.97,0.97:NOT_FOUND,NOT_FOUND 2 212615430 . C . . NT END=212652749;NT GT ./. 2 212652885 . C . . NT END=212812154;NT GT ./. 2 212812342 . C . . NT END=212989476;NT GT ./. 2 212989308 rs6738304 T C 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=ERBB4/NM_001042599.1/0;CC=c.234+169A>G;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.234+169A>G;VC=Intron;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,T:17:17:0:0:6,11:196,367:17.67,0.00:17.67,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:57.2,11.8:0,0:0,0:44,30:106,121:6,28:NM_005235.2(ERBB4) c.234+169A>G,-:0.41,-:NOT_FOUND,- 2 212989410 rs6723461 G C 76 nt VT=SNV;PN=G;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=ERBB4/NM_001042599.1/0;CC=c.234+67C>G;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.234+67C>G;VC=Intron;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:60:58:0:0:25,35:821,1097:76.32,0.00:71.01,0.00:5.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.5,5.0:0,0:0,0:47,48:104,103:32,34:NM_005235.2(ERBB4) c.234+67C>G,-:0.04,-:NOT_FOUND,- 2 212989629 . C . . NT END=213403172;NT GT ./. 2 213329616 rs148243973 TCA T 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=79;PC=0.002;Gene=ERBB4/NM_001042599.1/0;CC=c.82+73555_82+73556delTG;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.82+73555_82+73556delTG;VC=Intron;DM=ERBB4/Recep_L_domain;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:TCA,T:6:3:0:5:1,5:33,121:0.00,13.03:0.00,4.72:0.00,8.31:0.00,0.99:0.00,1.00:0.00,1.00:60,60:0.0,19.4:0,0:0,0:10,61:141,76:0,29:-,NM_005235.2(ERBB4) c.82+73555_82+73556delTG:-,NOT_FOUND:-,NOT_FOUND 2 213401874 rs71301554 C CGGCGGCGGCGGCGGG 9 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.996;Gene=ERBB4/NM_001042599.1/0;CC=c.82+1298_82+1299insCCCGCCGCCGCCGCC;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.82+1298_82+1299insCCCGCCGCCGCCGCC;VC=Intron;DM=ERBB4/Recep_L_domain;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,CGGCGGCGGCGGCGGG:9:8:3:0:6,3:201,98:0.00,8.74:0.00,5.97:0.00,2.77:0.00,0.64:0.00,0.94:0.00,0.92:60,60:5.5,3.0:0,0:0,0:53,82:35,55:26,16:-,NM_005235.2(ERBB4) c.82+1298_82+1299insCCCGCCGCCGCCGCC:-,NOT_FOUND:-,NOT_FOUND 2 213403091 rs73989053 G A 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=ERBB4/NM_001042599.1/0;CC=c.82+82C>T;VC=Intron;Gene=ERBB4/NM_005235.2/1;CC=c.82+82C>T;VC=Intron;DM=ERBB4/Recep_L_domain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:29:0:0:13,17:383,512:35.55,0.00:26.89,0.00:8.66,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:51.3,11.5:0,0:0,0:58,59:92,89:34,34:NM_005235.2(ERBB4) c.82+82C>T,-:0.17,-:NOT_FOUND,- 2 213403255 . T . . NT END=213872083;NT GT ./. 2 213601624 rs11693024 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,G:4:3:0:0:1,3:29,104:0.00,10.85:0.00,3.55:0.00,7.30:0.00,0.85:0.00,0.99:0.00,0.85:60,60:0.0,34.7:1,0:0,0:123,54:28,97:0,42:-,chr2 g.213601623C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 213748811 rs59653687 ATGTGTG A 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=29;PC=0.006;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:ATGTGTG,A:4:4:0:2:2,2:64,67:0.00,6.45:0.00,3.23:0.00,3.23:0.00,0.51:0.00,0.51:0.00,0.51:60,60:12.0,0.0:0,0:0,0:118,15:33,85:8,3:-,chr2 g.213748812_213748817delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 213872809 . C . . NT END=213878514;NT GT ./. 2 213872851 . AATAC A 21 nt VT=DEL;SST=Single;DP=75;Gene=IKZF2/NM_016260.2/0;CC=c.857-47_857-44delGTAT;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.779-47_779-44delGTAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:AATAC,A:75:26:0:12:66,9:2014,283:0.00,20.66:0.00,7.05:0.00,13.61:0.00,0.97:0.00,0.91:0.00,1.00:60,60:41.2,57.6:24,0:0,0:87,77:57,66:30,31:-,NM_016260.2(IKZF2) c.857-47_857-44delGTAT:-,NOT_FOUND:-,NOT_FOUND 2 213872853 rs147995454 TACA T 65 idl,nt VT=DEL;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=252;Gene=IKZF2/NM_016260.2/0;CC=c.857-48_857-46delTGT;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.779-48_779-46delTGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TACA,T:62:20:0:37:1,37,24:10,1042,715:-0.11,0.00,65.24:0.09,0.00,10.05:-0.20,0.00,55.19:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:41.0,31.3,60.4:0,0,0:0,0,0:85,97,70:66,52,77:0,28,39:-,NM_016260.2(IKZF2) c.857-48_857-46delTGT:-,0.17:-,0.216102 2 213872856 rs200786499 A T 32 idl,nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=IKZF2/NM_016260.2/0;CC=c.857-48T>A;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.779-48T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:51:17:0:26:38,13:1176,381:0.00,31.75:0.00,6.90:0.00,24.85:0.00,1.00:0.00,0.98:0.00,1.00:60,60:29.3,70.1:0,13:0,0:99,78:49,65:31,28:-,NM_016260.2(IKZF2) c.857-48T>A:-,NOT_FOUND:-,NOT_FOUND 2 213872868 rs76705042 A C 125 nt VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=IKZF2/NM_016260.2/0;CC=c.857-60T>G;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.779-60T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:69:18:0:0:32,37:913,1278:0.00,124.81:0.00,21.37:0.00,103.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.2,62.1:0,0:0,0:96,84:50,64:22,37:-,NM_016260.2(IKZF2) c.857-60T>G:-,0.17:-,NOT_FOUND 2 213872954 rs17355918 A G 51 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=IKZF2/NM_016260.2/0;CC=c.857-146T>C;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.779-146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:2:0:0:13,17:413,521:0.00,51.26:0.00,5.96:0.00,45.30:0.00,1.00:0.00,0.84:0.00,1.00:60,60:22.3,72.5:0,0:0,0:91,122:59,29:41,20:-,NM_016260.2(IKZF2) c.857-146T>C:-,0.17:-,NOT_FOUND 2 213872984 . A AT 8 rn VT=INS;SST=Single;DP=19;NP=1;Gene=IKZF2/NM_016260.2/0;CC=c.857-177_857-176insA;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.779-177_779-176insA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,AT,D:19:1:4:1:14,4,1:403,105,33:0.00,8.27,2.17:0.00,3.10,0.00:0.00,5.17,2.17:0.00,0.72,0.00:0.00,0.47,0.00:0.00,0.96,0.00:60,60,60:36.6,62.0,35.0:0,0,0:0,0,0:108,24,111:42,125,40:26,15,0:-,NM_016260.2(IKZF2) c.857-177_857-176insA:-,NOT_FOUND:-,NOT_FOUND 2 213873105 rs112361302 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=IKZF2/NM_016260.2/0;CC=c.857-297C>T;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.779-297C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:6:0:0:0:4,2:64,70:6.58,0.00:0.00,0.00:6.58,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:43.5,0.0:0,0:0,0:120,119:30,31:5,15:NM_016260.2(IKZF2) c.857-297C>T,-:0.22,-:NOT_FOUND,- 2 213878375 rs59507033 G A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=IKZF2/NM_016260.2/0;CC=c.856+140C>T;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.778+140C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:A,G:12:12:0:0:5,7:154,230:14.25,0.00:14.25,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:57.6,3.6:0,0:0,0:94,81:57,70:23,45:NM_016260.2(IKZF2) c.856+140C>T,-:0.16,-:NOT_FOUND,- 2 213878659 . C . . NT END=213886716;NT GT ./. 2 213886647 rs71301555 A ATTTTATCT 43 nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2078;PC=0.004;Gene=IKZF2/NM_016260.2/0;CC=c.712+62_712+69dupAGATAAAA;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.634+62_634+69dupAGATAAAA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATTTTATCT:57:56:15:0:42,15:1311,496:0.00,42.50:0.00,38.28:0.00,4.22:0.00,1.00:0.00,1.00:0.00,0.96:60,60:4.2,0.0:0,0:0,0:41,57:110,94:32,25:-,NM_016260.2(IKZF2) c.712+69_712+70insAGATAAAA:-,0.59:-,NOT_FOUND 2 213886855 . C . . NT END=213914436;NT GT ./. 2 213914343 rs2165444 C T 109 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=IKZF2/NM_016260.2/0;CC=c.574+94G>A;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.496+94G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:27:0:0:29:950:108.77:94.02:14.76:1.00:1.00:1.00:60:43.4:0:0:56:95:36:NM_016260.2(IKZF2) c.574+94G>A,NM_016260.2(IKZF2) c.574+94G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 213914605 . C . . NT END=213921556;NT GT ./. 2 213921824 . C . . NT END=214012431;NT GT ./. 2 213933636 rs3069602 A AACACAC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=2;NP=5;Gene=IKZF2/NM_016260.2/0;CC=c.140-11814_140-11813insGTGTGT;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.140-11814_140-11813insGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,AACACAC:4:3:3:0:1,3:12,100:0.00,10.48:0.00,11.06:0.00,-0.57:0.00,0.85:0.00,0.99:0.00,0.83:33,60:79.0,19.7:0,0:0,0:112,35:30,116:0,6:-,NM_016260.2(IKZF2) c.140-11814_140-11813insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 214012405 rs6738070 A C 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.031;Gene=IKZF2/NM_016260.2/0;CC=c.139+27T>G;VC=Intron;Gene=IKZF2/NM_001079526.1/1;CC=c.139+27T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:19:0:1:21:698:79.77:58.80:20.97:1.00:1.00:1.00:60:49.6:0:0:52:99:37:NM_016260.2(IKZF2) c.139+27T>G,NM_016260.2(IKZF2) c.139+27T>G:0.91,0.91:0.927879,0.927879 2 214012508 rs6709554 C T 60 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.996;Gene=IKZF2/NM_016260.2/0;CC=c.63G>A;ProtCh=p.E21=;VC=Silent;Gene=IKZF2/NM_001079526.1/1;CC=c.63G>A;ProtCh=p.E21=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:26:0:0:18,19:610,620:0.00,59.93:0.00,26.29:0.00,33.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,42.6:0,0:0,0:80,79:68,68:26,27:-,NM_016260.2(IKZF2) c.63G>A (p.(=)):-,0.18:-,0.276411 2 214012537 . C . . NT END=214013319;NT GT ./. 2 214013369 . C . . NT END=214014867;NT GT ./. 2 214014908 . T . . NT END=214148756;NT GT ./. 2 214015179 rs3217488 C CCCTCCTCCT 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=4;PC=0.999;Gene=IKZF2/NM_001079526.1/1;CC=c.-119-209_-119-208insAGGAGGAGG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CCCTCCTCCT:4:3:5:0:4:154:13.92:7.26:6.66:0.96:0.99:1.00:70:40.5:1:0:59:57:17:NM_016260.2(IKZF2) c.-169-u122_-169-u121insAGGAGGAGG,NM_016260.2(IKZF2) c.-169-u122_-169-u121insAGGAGGAGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 214092989 rs4673733 C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;NP=43;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:6:3:0:0:2,4:71,125:0.00,12.75:0.00,6.45:0.00,6.30:0.00,0.93:0.00,0.97:0.00,0.99:60,60:0.0,53.0:0,0:0,0:94,65:56,68:13,14:-,chr2 g.214092988C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 214148803 . C . . NT END=214149207;NT GT ./. 2 214149344 . G . . NT END=214150609;NT GT ./. 2 214150643 . G . . NT END=214160763;NT GT ./. 2 214160835 . G . . NT END=214161745;NT GT ./. 2 214161864 . G . . NT END=214161985;NT GT ./. 2 214162082 . G . . NT END=214174782;NT GT ./. 2 214174902 . G . . NT END=214181942;NT GT ./. 2 214175043 rs71060421 AACACACAC A 8 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;Gene=SPAG16/NM_001025436.2/0;CC=c.398+190_398+197delCACACACA;VC=Intron;Gene=SPAG16/NM_024532.4/1;CC=c.398+190_398+197delCACACACA;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AACACACAC,A:5:3:0:6:1,4:35,131:0.00,8.17:0.00,3.89:0.00,4.28:0.00,0.90:0.00,0.93:0.00,0.98:60,60:0.0,26.2:0,2:0,0:82,63:48,87:0,8:-,NM_024532.4(SPAG16) c.398+143_398+150delACACACAC:-,NOT_FOUND:-,NOT_FOUND 2 214182518 . g . . NT END=214204886;NT GT ./. 2 214204995 . G . . NT END=214215251;NT GT ./. 2 214215370 . G . . NT END=214228799;NT GT ./. 2 214215527 rs11674674 T G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.427;Gene=SPAG16/NM_024532.4/1;CC=c.762+158T>G;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:144:16.75:0.00:16.75:1.00:0.00:1.00:60:55.2:0:0:123:27:10:NM_024532.4(SPAG16) c.762+158T>G,NM_024532.4(SPAG16) c.762+158T>G:0.27,0.27:NOT_FOUND,NOT_FOUND 2 214226585 rs2371889 C T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SPAG16/NM_024532.4/1;CC=c.763-2215C>T;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:3:0:0:6:150:17.77:4.80:12.97:1.00:1.00:1.00:60:53.5:0:0:78:73:29:NM_024532.4(SPAG16) c.763-2215C>T,NM_024532.4(SPAG16) c.763-2215C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 214228792 rs12469417 C T 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.262;Gene=SPAG16/NM_024532.4/1;CC=c.763-8C>T;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:16:0:0:18:607:69.28:44.18:25.10:1.00:1.00:1.00:60:35.3:0:0:70:71:34:NM_024532.4(SPAG16) c.763-8C>T,NM_024532.4(SPAG16) c.763-8C>T:0.98,0.98:0.972495,0.972495 2 214228870 . G . . NT END=214239733;NT GT ./. 2 214228959 rs4146048 G A 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=SPAG16/NM_024532.4/1;CC=c.832+90G>A;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:3:0:0:16:547:62.33:6.07:56.27:1.00:1.00:1.00:60:44.8:0:0:106:32:25:NM_024532.4(SPAG16) c.832+90G>A,NM_024532.4(SPAG16) c.832+90G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 214239844 . G . . NT END=214354686;NT GT ./. 2 214354815 . G . . NT END=214727208;NT GT ./. 2 214355067 rs12993900 C G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SPAG16/NM_024532.4/1;CC=c.1070+253C>G;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:95:11.34:0.00:11.34:1.00:0.00:1.00:60:65.0:0:0:47:102:28:NM_024532.4(SPAG16) c.1070+253C>G,NM_024532.4(SPAG16) c.1070+253C>G:0.27,0.27:NOT_FOUND,NOT_FOUND 2 214632379 rs112743967 T TCACACACACACA 9 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=438;Gene=SPAG16/NM_024532.4/1;CC=c.1071-94806_1071-94805insCACACACACACA;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TCACACACACACA:3:2:5:0:3:132:9.26:-0.87:10.13:0.78:0.87:0.97:60:40.0:2:0:73:51:18:NM_024532.4(SPAG16) c.1071-94830_1071-94829insCACACACACACA,NM_024532.4(SPAG16) c.1071-94830_1071-94829insCACACACACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 214727353 . G . . NT END=214794683;NT GT ./. 2 214794870 . G . . NT END=214878674;NT GT ./. 2 214797551 rs907123 C G 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SPAG16/NM_024532.4/1;CC=c.1400+2682C>G;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:43.8:0:0:40:110:3:NM_024532.4(SPAG16) c.1400+2682C>G,NM_024532.4(SPAG16) c.1400+2682C>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 214797673 rs71063801 AACACAC A 9 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=37;Gene=SPAG16/NM_024532.4/1;CC=c.1400+2841_1400+2846delACACAC;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:AACACAC,A:7:6:0:6:4,3:130,165:0.00,8.84:0.00,6.43:0.00,2.41:0.00,0.62:0.00,0.86:0.00,0.92:60,60:32.0,63.0:0,3:0,0:105,45:44,89:5,11:-,NM_024532.4(SPAG16) c.1400+2805_1400+2810delACACAC:-,NOT_FOUND:-,NOT_FOUND 2 214878802 . G . . NT END=214972919;NT GT ./. 2 214921004 . T TACAC 7 rn VT=INS;SST=Single;DP=4;NP=18;NP=6;Gene=SPAG16/NM_024532.4/1;CC=c.1527+42237_1527+42238insACAC;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TACAC:3:4:3:0:1,2:32,99:0.00,6.65:0.00,5.06:0.00,1.59:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,6.0:0,1:0,0:16,16:135,134:0,0:-,NM_024532.4(SPAG16) c.1527+42203_1527+42204insACAC:-,NOT_FOUND:-,NOT_FOUND 2 214926705 . GCA G 6 idl,rn VT=DEL;SST=Single;DP=8;NP=11;Gene=SPAG16/NM_024532.4/1;CC=c.1528-46177_1528-46176delAC;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:GCA,I,G:6:7:4:2:2,2,2:70,94,68:0.00,2.50,6.30:0.00,-0.01,4.68:0.00,2.51,1.63:0.00,0.00,0.37:0.00,0.00,0.84:0.00,0.00,0.61:60,60,60:11.5,33.0,0.0:0,2,0:0,0,0:100,54,35:44,95,115:31,6,27:-,NM_024532.4(SPAG16) c.1528-46214_1528-46213delCA:-,NOT_FOUND:-,NOT_FOUND 2 214972986 . G . . NT END=215013863;NT GT ./. 2 215013787 rs2372225 A G 60 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1;NP=211;NP=4;Gene=SPAG16/NM_024532.4/1;CC=c.1594-77A>G;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,G:20:20:0:1:3,17:79,551:0.00,59.52:0.00,57.52:0.00,2.00:0.00,1.00:0.00,1.00:0.00,0.90:60,70:89.0,68.8:0,0:0,0:8,53:143,93:5,22:-,NM_024532.4(SPAG16) c.1594-77A>G:-,NOT_FOUND:-,NOT_FOUND 2 215013801 rs2372226 G CTATA 32 idl,nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1;NP=167;NP=2;NP=23;NP=5;PC=0.009;Gene=SPAG16/NM_024532.4/1;CC=c.1594-64_1594-63insCTAT;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,G,CTATA:19:20:12:0:5,4,10:87,141,376:7.52,0.00,31.62:5.89,0.00,28.12:1.63,0.00,3.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.93:60,60,70:82.4,65.2,74.7:4,0,2:0,0,0:65,104,47:85,47,103:2,11,32:-,NM_024532.4(SPAG16) c.1594-63delGinsCTATA:-,NOT_FOUND:-,NOT_FOUND 2 215013991 . G . . NT END=215274863;NT GT ./. 2 215014212 rs6435816 A G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.014;Gene=SPAG16/NM_024532.4/1;CC=c.1720+222A>G;VC=Intron;Gene=SPAG16/NR_047659.1/0;VC=NonCoding;Gene=SPAG16/NR_047660.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:297:34.41:0.00:34.41:1.00:0.00:1.00:60:53.3:0:0:98:52:17:NM_024532.4(SPAG16) c.1720+222A>G,NM_024532.4(SPAG16) c.1720+222A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 215275040 . C . . NT END=215278917;NT GT ./. 2 215278734 rs73072752 T C 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=VWC2L/NM_001080500.2/1;CC=c.-80-104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:15,9:501,282:50.36,0.00:50.36,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.7,26.4:0,0:0,0:55,88:96,53:18,25:NM_001080500.2(VWC2L) c.-80-104T>C,-:0.15,-:NOT_FOUND,- 2 215279308 . G . . NT END=215301352;NT GT ./. 2 215279604 rs3924563 T C 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.304;Gene=VWC2L/NM_001080500.2/1;CC=c.390+297T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:58:C,T:7:0:0:0:5,2:169,64:17.47,0.00:0.00,0.00:17.47,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:33.8,0.0:0,0:0,0:87,145:63,5:26,0:NM_001080500.2(VWC2L) c.390+297T>C,-:0.2,-:NOT_FOUND,- 2 215301483 . G . . NT END=215440395;NT GT ./. 2 215440545 . G . . NT END=215593399;NT GT ./. 2 215462889 rs71037383 A AACACACACACACACACACACACAC 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=9;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,AACACACACACACACACACACACAC:4:5:3:0:2,2:68,101:0.00,6.41:0.00,3.05:0.00,3.37:0.00,0.46:0.00,0.46:0.00,0.80:60,60:0.0,0.0:0,1:0,0:97,68:21,82:3,1:-,chr2 g.215462889_215462890insACACACACACACACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 215468075 rs71399140 A AACACACACACAC 13 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,AACACACACACAC:8:7:5:0:4,4:113,168:0.00,12.90:0.00,6.57:0.00,6.33:0.00,0.85:0.00,0.97:0.00,0.97:60,60:13.0,2.8:0,1:0,0:108,65:31,73:3,20:-,chr2 g.215468075_215468076insACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 215563180 rs2006702 G A 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:240:27.81:0.00:27.81:1.00:0.00:1.00:60:34.0:0:0:113:37:12:chr2 g.215563179G>A (intergenic),chr2 g.215563179G>A (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 2 215593233 rs5020511 T C 41 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.*167A>G;VC=3UTR;Gene=BARD1/NM_001282543.1/0;CC=c.*167A>G;VC=3UTR;Gene=BARD1/NM_001282545.1/0;CC=c.*167A>G;VC=3UTR;Gene=BARD1/NM_001282548.1/0;CC=c.*167A>G;VC=3UTR;Gene=BARD1/NM_001282549.1/0;CC=c.*167A>G;VC=3UTR;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:355:40.74:40.74:0.00:1.00:1.00:0.00:60:55.5:0:0:62:89:33:chr2 g.215593232T>C (intergenic),chr2 g.215593232T>C (intergenic):0.6,0.6:NOT_FOUND,NOT_FOUND 2 215593261 rs58253676 C CTT 23 idl,rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=4;Gene=BARD1/NM_000465.3/1;CC=c.*137_*138dupAA;VC=3UTR;Gene=BARD1/NM_001282543.1/0;CC=c.*137_*138dupAA;VC=3UTR;Gene=BARD1/NM_001282545.1/0;CC=c.*137_*138dupAA;VC=3UTR;Gene=BARD1/NM_001282548.1/0;CC=c.*137_*138dupAA;VC=3UTR;Gene=BARD1/NM_001282549.1/0;CC=c.*137_*138dupAA;VC=3UTR;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,CTT,D:11:13:9:2:2,7,2:69,290,52:0.00,23.29,4.39:0.00,23.29,4.39:0.00,0.00,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.00,0.00:60,60,60:50.5,96.7,69.0:0,2,0:0,0,0:106,47,29:37,104,106:16,29,1:-,NM_000465.2(BARD1) c.*124A[17]:-,NOT_FOUND:-,NOT_FOUND 2 215593733 . C . . NT END=215595134;NT GT ./. 2 215593851 rs2075623 G C 97 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.2002-119C>G;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1945-119C>G;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.649-119C>G;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.592-119C>G;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.463-119C>G;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:1:0:0:29:834:97.19:2.47:94.71:1.00:1.00:1.00:60:73.8:0:0:97:53:18:NM_000465.2(BARD1) c.2002-119C>G,NM_000465.2(BARD1) c.2002-119C>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 215593871 rs2075622 T G 91 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.2002-139A>C;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1945-139A>C;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.649-139A>C;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.592-139A>C;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.463-139A>C;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:1:0:0:24:795:90.94:3.18:87.77:1.00:1.00:1.00:60:77.1:0:0:113:38:14:NM_000465.2(BARD1) c.2002-139A>C,NM_000465.2(BARD1) c.2002-139A>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 215595233 . C . . NT END=215609790;NT GT ./. 2 215595445 rs3738886 C A 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.042;Gene=BARD1/NM_000465.3/1;CC=c.1904-213G>T;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1847-213G>T;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.551-213G>T;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.494-213G>T;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.365-213G>T;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:4:0:0:0:3,1:77,34:8.12,0.00:0.00,0.00:8.12,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:58.0,0.0:0,0:0,0:28,118:123,31:8,0:NM_000465.2(BARD1) c.1904-213G>T,-:0.32,-:NOT_FOUND,- 2 215609884 . C . . NT END=215610445;NT GT ./. 2 215610579 . C . . NT END=215617170;NT GT ./. 2 215610740 rs1838803 A T 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.001;Gene=BARD1/NM_000465.3/1;CC=c.1678-162T>A;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1621-162T>A;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.325-162T>A;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.268-162T>A;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.365-15508T>A;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:398:45.95:0.00:45.95:1.00:0.00:1.00:60:49.6:0:0:93:58:21:NM_000465.2(BARD1) c.1678-162T>A,NM_000465.2(BARD1) c.1678-162T>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 215610777 rs1838804 T C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1678-199A>G;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1621-199A>G;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.325-199A>G;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.268-199A>G;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.365-15545A>G;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,T:9:0:0:0:4,5:137,165:12.92,0.00:0.00,0.00:12.92,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:72.2,35.8:0,0:0,0:129,118:21,33:9,20:NM_000465.2(BARD1) c.1678-199A>G,-:0.27,-:NOT_FOUND,- 2 215617280 . C . . NT END=215632205;NT GT ./. 2 215632048 rs6413460 G T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1568+158C>A;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1511+158C>A;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-14769C>A;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-14769C>A;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+24973C>A;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:G,T:12:12:0:0:9,3:304,84:0.00,6.90:0.00,6.90:0.00,0.00:0.00,0.59:0.00,0.59:0.00,0.00:60,60:3.9,65.0:0,0:0,0:67,21:83,120:45,8:-,NM_000465.2(BARD1) c.1568+158C>A:-,0.36:-,NOT_FOUND 2 215632124 rs5031008 ATT A 28 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1420;PC=0.012;Gene=BARD1/NM_000465.3/1;CC=c.1568+80_1568+81delAA;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1511+80_1511+81delAA;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-14847_216-14846delAA;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-14847_159-14846delAA;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+24895_364+24896delAA;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATT,A:18:17:0:9:9,9:291,287:0.00,27.57:0.00,28.18:0.00,-0.60:0.00,1.00:0.00,1.00:0.00,0.89:60,60:4.7,74.6:0,0:0,0:77,61:73,90:35,28:-,NM_000465.2(BARD1) c.1568+80_1568+81delAA:-,0.36:-,NOT_FOUND 2 215632155 rs5031009 T C 31 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1568+51A>G;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1511+51A>G;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-14876A>G;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-14876A>G;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+24866A>G;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:20:0:0:10,14:332,464:30.89,0.00:30.38,0.00:0.51,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:94.3,21.7:0,0:0,0:75,24:75,125:28,19:NM_000465.2(BARD1) c.1568+51A>G,-:0.36,-:0.359296,- 2 215632192 rs5031011 G A 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1568+14C>T;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1511+14C>T;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-14913C>T;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-14913C>T;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+24829C>T;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:34:0:0:16,24:516,715:47.53,0.00:43.03,0.00:4.50,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:98.2,26.0:0,0:0,0:48,36:89,107:39,17:NM_000465.2(BARD1) c.1568+14C>T,-:0.35,-:0.335307,- 2 215632255 rs2070094 C T 56 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1519G>A;ProtCh=p.V507M;VC=Missense;Gene=BARD1/NM_001282543.1/0;CC=c.1462G>A;ProtCh=p.V488M;VC=Missense;Gene=BARD1/NM_001282545.1/0;CC=c.216-14976G>A;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-14976G>A;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+24766G>A;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:42:0:0:35,18:1162,618:0.00,55.64:0.00,30.31:0.00,25.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.9,90.5:0,0:0,0:78,61:66,89:29,27:-,NM_000465.2(BARD1) c.1519G>A (p.Val507Met):-,0.28:-,0.28064 2 215632256 rs2070093 A G 185 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1518T>C;ProtCh=p.H506=;VC=Silent;Gene=BARD1/NM_001282543.1/0;CC=c.1461T>C;ProtCh=p.H487=;VC=Silent;Gene=BARD1/NM_001282545.1/0;CC=c.216-14977T>C;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-14977T>C;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+24765T>C;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:G:51:42:0:0:51:1611:185.20:111.83:73.37:1.00:1.00:1.00:60:54.2:0:0:65:85:25:NM_000465.2(BARD1) c.1518T>C (p.(=)),NM_000465.2(BARD1) c.1518T>C (p.(=)):0.73,0.73:0.713824,0.713824 2 215632379 . C . . NT END=215633955;NT GT ./. 2 215632629 rs6755062 G T 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.008;Gene=BARD1/NM_000465.3/1;CC=c.1396-251C>A;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1339-251C>A;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-15350C>A;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-15350C>A;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+24392C>A;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:G,T:4:0:0:0:2,2:45,66:0.00,6.37:0.00,0.00:0.00,6.37:0.00,0.51:0.00,0.00:0.00,0.51:60,60:66.5,81.5:0,0:0,0:89,88:61,60:17,28:-,NM_000465.2(BARD1) c.1396-251C>A:-,0.36:-,NOT_FOUND 2 215634037 . C . . NT END=215645283;NT GT ./. 2 215634055 rs6704780 C T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1315-19G>A;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1258-19G>A;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-16776G>A;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-16776G>A;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+22966G>A;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:13:0:0:21,9:598,295:0.00,25.86:0.00,3.80:0.00,22.05:0.00,0.99:0.00,0.98:0.00,1.00:60,60:4.2,37.0:0,0:0,0:86,110:62,29:22,31:-,NM_000465.2(BARD1) c.1315-19G>A:-,0.36:-,0.359526 2 215634232 rs6733785 A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.007;Gene=BARD1/NM_000465.3/1;CC=c.1315-196T>C;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1258-196T>C;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-16953T>C;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-16953T>C;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+22789T>C;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:132:15.11:3.68:11.43:1.00:1.00:1.00:60:81.2:0:0:82:68:19:NM_000465.2(BARD1) c.1315-196T>C,NM_000465.2(BARD1) c.1315-196T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 2 215634236 rs6435857 T C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;Gene=BARD1/NM_000465.3/1;CC=c.1315-200A>G;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1258-200A>G;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.216-16957A>G;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-16957A>G;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+22785A>G;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:121:14.01:3.78:10.23:1.00:1.00:1.00:60:81.2:0:0:86:64:19:NM_000465.2(BARD1) c.1315-200A>G,NM_000465.2(BARD1) c.1315-200A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 215645046 rs3768708 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1314+238G>A;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1257+238G>A;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.215+16739G>A;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-27767G>A;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+11975G>A;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:118:13.70:13.70:0.00:1.00:1.00:0.00:60:119.5:0:0:85:65:12:NM_000465.2(BARD1) c.1314+238G>A,NM_000465.2(BARD1) c.1314+238G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 2 215645135 rs3768707 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1314+149T>C;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.1257+149T>C;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.215+16650T>C;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-27856T>C;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+11886T>C;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/Ank GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:181:20.94:20.94:0.00:1.00:1.00:0.00:60:30.2:0:0:19:130:14:NM_000465.2(BARD1) c.1314+149T>C,NM_000465.2(BARD1) c.1314+149T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 215645464 rs2229571 C G 265 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.1134G>C;ProtCh=p.R378S;VC=Missense;Gene=BARD1/NM_001282543.1/0;CC=c.1077G>C;ProtCh=p.R359S;VC=Missense;Gene=BARD1/NM_001282545.1/0;CC=c.215+16321G>C;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.159-28185G>C;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.364+11557G>C;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:A,G:69:45:0:0:1,68:10,2331:0.13,265.07:0.00,142.00:0.13,123.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:146.0,39.6:0,0:0,0:127,82:24,66:0,26:NM_000465.2(BARD1) c.1134G>C (p.Arg378Ser),NM_000465.2(BARD1) c.1134G>C (p.Arg378Ser):0.49,0.49:0.531831,0.531831 2 215646234 . C . . NT END=215657020;NT GT ./. 2 215657170 . C . . NT END=215661784;NT GT ./. 2 215657182 rs56130510 TA T 21 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;Gene=BARD1/NM_000465.3/1;CC=c.216-14delT;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.159-14delT;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.215+4602delT;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.158+16953delT;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.216-14delT;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/zf-RING_6;DM=BARD1/zf-RING_6;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:44:19:2:11:1,32,2,9:10,883,64,319:-0.11,0.00,4.02,21.12:-0.10,0.00,3.22,4.50:-0.01,0.00,0.80,16.62:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.96:0.00,0.00,0.00,1.00:60,60,60,60:10.0,16.3,5.0,33.1:0,0,0,2:0,0,0,0:44,104,32,96:70,44,112,47:0,27,3,13:-,NM_000465.2(BARD1) c.216-14delT:-,NOT_FOUND:-,NOT_FOUND 2 215661842 . C . . NT END=215674135;NT GT ./. 2 215673937 rs13021937 C T 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.158+199G>A;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.158+199G>A;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.158+199G>A;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.158+199G>A;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.158+199G>A;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/zf-RING_6;DM=BARD1/zf-RING_6;DM=BARD1/zf-RING_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:366:41.85:41.85:0.00:1.00:1.00:0.00:60:59.1:0:0:20:129:14:NM_000465.2(BARD1) c.158+199G>A,NM_000465.2(BARD1) c.158+199G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 2 215673948 rs71579843 C A 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.158+188G>T;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.158+188G>T;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.158+188G>T;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.158+188G>T;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.158+188G>T;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/zf-RING_6;DM=BARD1/zf-RING_6;DM=BARD1/zf-RING_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,C:12:12:0:0:8,4:263,112:26.81,0.00:26.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:67.2,44.5:0,0:0,0:18,69:132,82:3,24:NM_000465.2(BARD1) c.158+188G>T,-:0.01,-:NOT_FOUND,- 2 215674090 rs35933323 T G 346 nt VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=NA;PC=0.001;Gene=BARD1/NM_000465.3/1;CC=c.158+46A>C;VC=Intron;Gene=BARD1/NM_001282543.1/0;CC=c.158+46A>C;VC=Intron;Gene=BARD1/NM_001282545.1/0;CC=c.158+46A>C;VC=Intron;Gene=BARD1/NM_001282548.1/0;CC=c.158+46A>C;VC=Intron;Gene=BARD1/NM_001282549.1/0;CC=c.158+46A>C;VC=Intron;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding;DM=BARD1/zf-RING_6;DM=BARD1/zf-RING_6;DM=BARD1/zf-RING_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:100:95:0:0:100:2989:346.21:271.56:74.65:1.00:1.00:1.00:60:38.1:0:0:41:104:33:NM_000465.2(BARD1) c.158+46A>C,NM_000465.2(BARD1) c.158+46A>C:0.77,0.77:0.74696,0.74696 2 215674224 rs1048108 G A 228 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=137;DB;DBA=NA;PAF=NA;PC=0.676;Gene=BARD1/NM_000465.3/1;CC=c.70C>T;ProtCh=p.P24S;VC=Missense;Gene=BARD1/NM_001282543.1/0;CC=c.70C>T;ProtCh=p.P24S;VC=Missense;Gene=BARD1/NM_001282545.1/0;CC=c.70C>T;ProtCh=p.P24S;VC=Missense;Gene=BARD1/NM_001282548.1/0;CC=c.70C>T;ProtCh=p.P24S;VC=Missense;Gene=BARD1/NM_001282549.1/0;CC=c.70C>T;ProtCh=p.P24S;VC=Missense;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:137:89:0:0:73,64:2342,2099:227.91,0.00:100.02,0.00:127.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.6,29.2:0,0:0,0:75,66:61,77:34,35:NM_000465.2(BARD1) c.70C>T (p.Pro24Ser),-:0.35,-:0.303136,- 2 215674301 . C . . NT END=215797357;NT GT ./. 2 215674323 rs1129804 C G 344 nt VT=SNV;PN=G;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.-30G>C;VC=5UTR;Gene=BARD1/NM_001282543.1/0;CC=c.-30G>C;VC=5UTR;Gene=BARD1/NM_001282545.1/0;CC=c.-30G>C;VC=5UTR;Gene=BARD1/NM_001282548.1/0;CC=c.-30G>C;VC=5UTR;Gene=BARD1/NM_001282549.1/0;CC=c.-30G>C;VC=5UTR;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:95:39:0:1:1,94:10,2994:0.11,343.58:0.11,89.34:0.00,254.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:161.0,90.8:0,0:0,0:68,96:83,50:0,33:NM_000465.2(BARD1) c.-30G>C,NM_000465.2(BARD1) c.-30G>C:0.77,0.77:0.770881,0.770881 2 215674341 rs17489363 A G 304 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.-48T>C;VC=5UTR;Gene=BARD1/NM_001282543.1/0;CC=c.-48T>C;VC=5UTR;Gene=BARD1/NM_001282545.1/0;CC=c.-48T>C;VC=5UTR;Gene=BARD1/NM_001282548.1/0;CC=c.-48T>C;VC=5UTR;Gene=BARD1/NM_001282549.1/0;CC=c.-48T>C;VC=5UTR;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:30:0:0:84:2639:303.81:67.52:236.29:1.00:1.00:1.00:60:103.6:0:0:101:45:31:NM_000465.2(BARD1) c.-48T>C,NM_000465.2(BARD1) c.-48T>C:0.77,0.77:0.785181,0.785181 2 215674371 rs34732883 C T 220 nt VT=SNV;PN=G;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=BARD1/NM_000465.3/1;CC=c.-78G>A;VC=5UTR;Gene=BARD1/NM_001282543.1/0;CC=c.-78G>A;VC=5UTR;Gene=BARD1/NM_001282545.1/0;CC=c.-78G>A;VC=5UTR;Gene=BARD1/NM_001282548.1/0;CC=c.-78G>A;VC=5UTR;Gene=BARD1/NM_001282549.1/0;CC=c.-78G>A;VC=5UTR;Gene=BARD1/NR_104212.1/0;VC=NonCoding;Gene=BARD1/NR_104215.1/0;VC=NonCoding;Gene=BARD1/NR_104216.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:C,T:67:17:0:0:1,66:10,1902:0.00,219.63:0.00,32.90:0.00,186.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:112.0,112.3:0,0:0,0:37,105:114,44:0,32:NM_000465.2(BARD1) c.-78G>A,NM_000465.2(BARD1) c.-78G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 2 215674436 rs13022992 C T 118 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:99:T:37:0:0:0:37:1007:118.12:0.00:118.12:1.00:0.00:1.00:60:101.3:0:0:112:39:17:NM_000465.2(BARD1) c.-135-u8G>A,NM_000465.2(BARD1) c.-135-u8G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 215712375 rs1446361 G A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.030;Gene=LOC101928103/NR_110292.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,G:12:0:0:0:5,7:161,228:14.95,0.00:0.00,0.00:14.95,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:71.6,9.9:0,0:0,0:93,110:57,41:45,20:chr2 g.215712374G>A (intergenic),-:0.38,-:NOT_FOUND,- 2 215797466 . C . . NT END=215798801;NT GT ./. 2 215798940 . C . . NT END=215802233;NT GT ./. 2 215802340 . C . . NT END=215807648;NT GT ./. 2 215807742 . C . . NT END=215809724;NT GT ./. 2 215809829 . C . . NT END=215812145;NT GT ./. 2 215812281 . C . . NT END=215813319;NT GT ./. 2 215813331 rs726070 C T 102 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=in-clinvar;PAF=NA;PC=0.999;Gene=LOC101928103/NR_110292.1/0;VC=NonCoding;Gene=ABCA12/NM_015657.3/0;CC=c.6139G>A;ProtCh=p.D2047N;VC=Missense;Gene=ABCA12/NM_173076.2/1;CC=c.7093G>A;ProtCh=p.D2365N;VC=Missense;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:52:0:0:33,32:1072,1058:0.00,101.52:0.00,65.89:0.00,35.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,35.4:0,0:0,0:65,57:80,93:34,26:-,NM_173076.2(ABCA12) c.7093G>A (p.Asp2365Asn):-,0.02:-,0.018684 2 215813462 . C . . NT END=215813763;NT GT ./. 2 215813874 . C . . NT END=215815602;NT GT ./. 2 215815808 . C . . NT END=215818577;NT GT ./. 2 215818832 . C . . NT END=215819925;NT GT ./. 2 215820086 . C . . NT END=215821386;NT GT ./. 2 215821503 . C . . NT END=215823000;NT GT ./. 2 215821549 rs373508320 CA C 6 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=217;PC=0.001;Gene=LOC101928103/NR_110292.1/0;VC=NonCoding;Gene=ABCA12/NM_015657.3/0;CC=c.5164-48delT;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.6118-48delT;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,CA,C:24:13:0:4:1,20,3:22,550,120:0.95,0.00,6.47:-0.14,0.00,-0.34:1.09,0.00,6.81:0.00,0.00,0.46:0.00,0.00,0.73:0.00,0.00,0.85:60,60,60:146.0,17.0,4.3:0,0,1:0,0,0:68,115,74:72,34,76:0,20,12:-,NM_173076.2(ABCA12) c.6118-48delT:-,NOT_FOUND:-,NOT_FOUND 2 215823179 . C . . NT END=215823747;NT GT ./. 2 215823803 . C . . NT END=215831571;NT GT ./. 2 215831678 . C . . NT END=215833443;NT GT ./. 2 215833532 . C . . NT END=215834996;NT GT ./. 2 215835125 . C . . NT END=215838672;NT GT ./. 2 215838767 . C . . NT END=215839501;NT GT ./. 2 215839589 . C . . NT END=215840508;NT GT ./. 2 215840762 . C . . NT END=215843039;NT GT ./. 2 215843191 . C . . NT END=215843527;NT GT ./. 2 215843765 . C . . NT END=215845206;NT GT ./. 2 215845368 . C . . NT END=215846910;NT GT ./. 2 215846666 rs375532243 T TTTA 15 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;NP=5;PC=0.003;Gene=ABCA12/NM_015657.3/0;CC=c.3625+244_3625+245insTAA;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.4579+244_4579+245insTAA;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:T,TTTA:7:7:5:0:2,5:62,140:0.00,14.56:0.00,14.56:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:5.0,37.0:0,0:0,0:45,60:105,91:15,32:-,NM_173076.2(ABCA12) c.4579+244_4579+245insTAA:-,NOT_FOUND:-,NOT_FOUND 2 215847108 . C . . NT END=215848370;NT GT ./. 2 215847177 rs4610055 C A 87 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.3429-70G>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.4383-70G>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:1:0:0:27:746:87.31:1.94:85.37:1.00:1.00:1.00:60:28.9:0:0:109:40:26:NM_173076.2(ABCA12) c.4383-70G>T,NM_173076.2(ABCA12) c.4383-70G>T:0.74,0.74:NOT_FOUND,NOT_FOUND 2 215848590 . C . . NT END=215851265;NT GT ./. 2 215851246 rs7559069 A G 150 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=3482;Gene=ABCA12/NM_015657.3/0;CC=c.3209+20T>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.4163+20T>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A,G:42:36:0:0:2,40:26,1338:0.00,149.58:0.00,90.20:0.00,59.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,36.4:0,0:0,0:103,63:47,85:44,42:NM_173076.2(ABCA12) c.4163+20T>C,NM_173076.2(ABCA12) c.4163+20T>C:1,1:0.998847,0.998847 2 215851453 . C . . NT END=215852370;NT GT ./. 2 215851648 rs10755029 G A 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ABCA12/NM_015657.3/0;CC=c.3023-196C>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3977-196C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:0:0:0:12:374:43.09:0.00:43.09:1.00:0.00:1.00:60:45.8:0:0:120:30:13:NM_173076.2(ABCA12) c.3977-196C>T,NM_173076.2(ABCA12) c.3977-196C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 215852518 . C . . NT END=215854052;NT GT ./. 2 215852790 rs6435866 C A 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=119;Gene=ABCA12/NM_015657.3/0;CC=c.2876-273G>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3830-273G>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:140:16.31:0.00:16.31:1.00:0.00:1.00:60:29.8:0:0:80:71:7:NM_173076.2(ABCA12) c.3830-273G>T,NM_173076.2(ABCA12) c.3830-273G>T:1,1:NOT_FOUND,NOT_FOUND 2 215854188 . C . . NT END=215854275;NT GT ./. 2 215854346 . C . . NT END=215855425;NT GT ./. 2 215855756 . C . . NT END=215862418;NT GT ./. 2 215855897 rs1880134 T G 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.2341-142A>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3295-142A>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:0:0:0:15:504:57.55:0.00:57.55:1.00:0.00:1.00:60:38.1:0:0:124:26:18:NM_173076.2(ABCA12) c.3295-142A>C,NM_173076.2(ABCA12) c.3295-142A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 215862383 rs1980844 G A 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ABCA12/NM_015657.3/0;CC=c.2340+36C>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3294+36C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:13:0:0:15:468:53.93:44.27:9.66:1.00:1.00:1.00:60:42.2:0:0:48:103:36:NM_173076.2(ABCA12) c.3294+36C>T,NM_173076.2(ABCA12) c.3294+36C>T:0.76,0.76:0.727972,0.727972 2 215862534 . C . . NT END=215864511;NT GT ./. 2 215862633 rs1326748 C G 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.020;Gene=ABCA12/NM_015657.3/0;CC=c.2226-100G>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3180-100G>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:244:28.19:0.00:28.19:1.00:0.00:1.00:60:54.6:0:0:121:30:15:NM_173076.2(ABCA12) c.3180-100G>C,NM_173076.2(ABCA12) c.3180-100G>C:1,1:NOT_FOUND,NOT_FOUND 2 215862711 rs4673926 G A 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=773;Gene=ABCA12/NM_015657.3/0;CC=c.2226-178C>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3180-178C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:87:10.56:0.00:10.56:1.00:0.00:1.00:60:88.0:0:0:81:69:25:NM_173076.2(ABCA12) c.3180-178C>T,NM_173076.2(ABCA12) c.3180-178C>T:1,1:NOT_FOUND,NOT_FOUND 2 215864436 rs2038957 G A 80 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.019;Gene=ABCA12/NM_015657.3/0;CC=c.2225+993C>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3179+993C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:21:0:0:21:697:79.69:71.78:7.90:1.00:1.00:1.00:60:89.1:0:0:26:125:17:NM_173076.2(ABCA12) c.3179+993C>T,NM_173076.2(ABCA12) c.3179+993C>T:1,1:NOT_FOUND,NOT_FOUND 2 215864450 rs2038956 C T 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.2225+979G>A;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3179+979G>A;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:23:0:0:23:785:89.47:79.43:10.04:1.00:1.00:1.00:60:86.9:0:0:41:110:21:NM_173076.2(ABCA12) c.3179+979G>A,NM_173076.2(ABCA12) c.3179+979G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 215864549 rs2038955 C T 123 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ABCA12/NM_015657.3/0;CC=c.2225+880G>A;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.3179+880G>A;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:25:0:0:34:1069:123.05:64.19:58.86:1.00:1.00:1.00:60:60.9:0:0:80:55:38:NM_173076.2(ABCA12) c.3179+880G>A,NM_173076.2(ABCA12) c.3179+880G>A:1,1:NOT_FOUND,NOT_FOUND 2 215864568 . C . . NT END=215865428;NT GT ./. 2 215865575 rs10498030 T C 165 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ABCA12/NM_015657.3/0;CC=c.2079A>G;ProtCh=p.P693=;VC=Silent;Gene=ABCA12/NM_173076.2/1;CC=c.3033A>G;ProtCh=p.P1011=;VC=Silent;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:126:84:0:0:55,71:1766,2379:165.32,0.00:99.56,0.00:65.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,6.1:0,0:0,0:67,54:83,91:24,29:NM_173076.2(ABCA12) c.3033A>G (p.(=)),-:0.22,-:0.185453,- 2 215865745 . C . . NT END=215866281;NT GT ./. 2 215865849 rs2049361 G A 115 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=2438;PC=0.491;Gene=ABCA12/NM_015657.3/0;CC=c.1910-105C>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2864-105C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:3:0:0:32:1002:115.36:8.89:106.46:1.00:1.00:1.00:60:43.0:0:0:114:36:28:NM_173076.2(ABCA12) c.2864-105C>T,NM_173076.2(ABCA12) c.2864-105C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 215866462 . C . . NT END=215868932;NT GT ./. 2 215866574 rs10169991 C G 92 nt VT=SNV;PN=G;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1906;Gene=ABCA12/NM_015657.3/0;CC=c.1730-113G>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2684-113G>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:0:0:0:25:798:91.65:0.00:91.65:1.00:0.00:1.00:60:72.6:0:0:105:46:33:NM_173076.2(ABCA12) c.2684-113G>C,NM_173076.2(ABCA12) c.2684-113G>C:1,1:NOT_FOUND,NOT_FOUND 2 215866599 rs1409610 C G 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.1730-138G>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2684-138G>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:0:0:0:22:716:82.07:0.00:82.07:1.00:0.00:1.00:60:77.0:0:0:100:49:33:NM_173076.2(ABCA12) c.2684-138G>C,NM_173076.2(ABCA12) c.2684-138G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 215869024 . C . . NT END=215872450;NT GT ./. 2 215872334 rs940279 G A 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ABCA12/NM_015657.3/0;CC=c.1638+117C>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2592+117C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:13:0:0:14:447:51.37:47.40:3.98:1.00:1.00:1.00:60:42.1:0:0:63:87:26:NM_173076.2(ABCA12) c.2592+117C>T,NM_173076.2(ABCA12) c.2592+117C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 2 215872571 . C . . NT END=215875054;NT GT ./. 2 215874918 rs4673929 T C 50 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=2577;Gene=ABCA12/NM_015657.3/0;CC=c.1518+137A>G;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2472+137A>G;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:434:50.03:47.99:2.04:1.00:1.00:1.00:60:74.4:0:0:40:110:17:NM_173076.2(ABCA12) c.2472+137A>G,NM_173076.2(ABCA12) c.2472+137A>G:1,1:NOT_FOUND,NOT_FOUND 2 215874965 rs6733264 G T 112 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.1518+90C>A;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2472+90C>A;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:T:30:29:0:0:30:976:111.90:100.72:11.18:1.00:1.00:1.00:60:56.4:0:0:42:108:20:NM_173076.2(ABCA12) c.2472+90C>A,NM_173076.2(ABCA12) c.2472+90C>A:0.76,0.76:NOT_FOUND,NOT_FOUND 2 215875195 . C . . NT END=215876162;NT GT ./. 2 215875251 rs1409607 A T 124 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.1379-57T>A;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2333-57T>A;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:12:0:0:32:1089:124.16:26.20:97.96:1.00:1.00:1.00:60:38.1:0:0:108:35:22:NM_173076.2(ABCA12) c.2333-57T>A,NM_173076.2(ABCA12) c.2333-57T>A:1,1:NOT_FOUND,NOT_FOUND 2 215876166 rs7560008 A T 148 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=3473;PC=0.016;Gene=ABCA12/NM_015657.3/0;CC=c.1375T>A;ProtCh=p.S459T;VC=Missense;Gene=ABCA12/NM_173076.2/1;CC=c.2329T>A;ProtCh=p.S777T;VC=Missense;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:38:0:0:40:1287:147.77:113.68:34.09:1.00:1.00:1.00:60:36.5:0:0:40:104:22:NM_173076.2(ABCA12) c.2329T>A (p.Ser777Thr),NM_173076.2(ABCA12) c.2329T>A (p.Ser777Thr):1,1:0.99777,0.99777 2 215876374 . C . . NT END=215876694;NT GT ./. 2 215876589 rs11388414 G GT 39 idl,rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=432;PC=0.004;Gene=ABCA12/NM_015657.3/0;CC=c.1167+105dupA;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.2121+105dupA;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,GT:15:15:15:1:3,12:105,460:0.00,38.88:0.00,33.32:0.00,5.56:0.00,1.00:0.00,1.00:0.00,0.99:60,70:35.0,37.8:0,3:0,0:24,72:127,78:4,33:-,NM_173076.2(ABCA12) c.2121+105_2121+106insA:-,NOT_FOUND:-,NOT_FOUND 2 215876860 . C . . NT END=215880213;NT GT ./. 2 215879998 rs68176902 GAGTT G 25 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=360;PC=0.002;Gene=ABCA12/NM_015657.3/0;CC=c.1002+212_1002+215delAACT;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1956+212_1956+215delAACT;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:GAGTT,G:10:10:0:8:2,8:46,237:0.00,25.38:0.00,25.38:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:36.5,21.4:0,0:0,0:142,42:4,107:2,17:-,NM_173076.2(ABCA12) c.1956+212_1956+215delAACT:-,1:-,NOT_FOUND 2 215880108 rs6753310 C T 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.1002+106G>A;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1956+106G>A;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:552:63.26:59.23:4.03:1.00:1.00:1.00:60:33.1:0:0:72:79:39:NM_173076.2(ABCA12) c.1956+106G>A,NM_173076.2(ABCA12) c.1956+106G>A:0.82,0.82:NOT_FOUND,NOT_FOUND 2 215880388 . C . . NT END=215882731;NT GT ./. 2 215882529 rs6435868 G A 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1044;Gene=ABCA12/NM_015657.3/0;CC=c.828+203C>T;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1782+203C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:329:38.13:38.13:0.00:1.00:1.00:0.00:60:40.1:0:0:24:127:14:NM_173076.2(ABCA12) c.1782+203C>T,NM_173076.2(ABCA12) c.1782+203C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 215882857 . C . . NT END=215884059;NT GT ./. 2 215883988 rs1403835 T C 99 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=3412;Gene=ABCA12/NM_015657.3/0;CC=c.703+72A>G;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1657+72A>G;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:26:0:0:27:863:99.15:91.20:7.95:1.00:1.00:1.00:60:40.6:0:0:38:113:28:NM_173076.2(ABCA12) c.1657+72A>G,NM_173076.2(ABCA12) c.1657+72A>G:1,1:NOT_FOUND,NOT_FOUND 2 215884173 . C . . NT END=215884263;NT GT ./. 2 215884521 . C . . NT END=215890396;NT GT ./. 2 215890253 rs2177424 C G 25 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.333+144G>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1287+144G>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:216:24.94:24.94:0.00:1.00:1.00:0.00:60:71.4:0:0:64:87:49:NM_173076.2(ABCA12) c.1287+144G>C,NM_173076.2(ABCA12) c.1287+144G>C:1,1:NOT_FOUND,NOT_FOUND 2 215890312 rs2177423 A G 45 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2746;Gene=ABCA12/NM_015657.3/0;CC=c.333+85T>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1287+85T>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:392:45.37:43.43:1.94:1.00:1.00:1.00:60:89.2:0:0:37:96:29:NM_173076.2(ABCA12) c.1287+85T>C,NM_173076.2(ABCA12) c.1287+85T>C:1,1:NOT_FOUND,NOT_FOUND 2 215890324 rs5838479 G GT 33 sb;idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1712;PC=0.002;Gene=ABCA12/NM_015657.3/0;CC=c.333+72_333+73insA;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1287+72_1287+73insA;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:G,GT:11:14:13:0:1,10:33,402:0.00,33.46:0.00,33.51:0.00,-0.05:0.00,1.00:0.00,1.00:0.00,0.93:55,60:85.0,98.8:0,3:0,0:31,33:92,117:0,16:-,NM_173076.2(ABCA12) c.1287+72_1287+73insA:-,NOT_FOUND:-,NOT_FOUND 2 215890352 rs5838480 GTT G 62 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2626;PC=0.005;Gene=ABCA12/NM_015657.3/0;CC=c.333+43_333+44delAA;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1287+43_1287+44delAA;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GTT,G:20:19:0:18:2,18:46,561:0.00,61.87:0.00,47.09:0.00,14.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:89.5,55.3:0,0:0,0:87,48:57,101:48,23:NM_173076.2(ABCA12) c.1287+43_1287+44delAA,NM_173076.2(ABCA12) c.1287+43_1287+44delAA:NOT_FOUND,NOT_FOUND:0.963437,0.963437 2 215890504 . C . . NT END=215891543;NT GT ./. 2 215891663 . C . . NT END=215896544;NT GT ./. 2 215891977 rs6435869 A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.015;Gene=ABCA12/NM_015657.3/0;CC=c.108-315T>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1062-315T>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:116:13.49:4.08:9.41:1.00:1.00:1.00:60:34.8:0:0:78:71:7:NM_173076.2(ABCA12) c.1062-315T>C,NM_173076.2(ABCA12) c.1062-315T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 215896316 rs4673935 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.107+229T>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1061+229T>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:126:14.82:14.82:0.00:1.00:1.00:0.00:60:90.2:0:0:56:95:9:NM_173076.2(ABCA12) c.1061+229T>C,NM_173076.2(ABCA12) c.1061+229T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 215896349 rs4672744 T G 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=996;PC=0.001;Gene=ABCA12/NM_015657.3/0;CC=c.107+196A>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1061+196A>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:90.2:0:0:89:62:9:NM_173076.2(ABCA12) c.1061+196A>C,NM_173076.2(ABCA12) c.1061+196A>C:1,1:NOT_FOUND,NOT_FOUND 2 215896352 rs4673936 A G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1090;Gene=ABCA12/NM_015657.3/0;CC=c.107+193T>C;VC=Intron;Gene=ABCA12/NM_173076.2/1;CC=c.1061+193T>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:127:15.03:15.03:0.00:1.00:1.00:0.00:60:90.2:0:0:92:59:9:NM_173076.2(ABCA12) c.1061+193T>C,NM_173076.2(ABCA12) c.1061+193T>C:1,1:NOT_FOUND,NOT_FOUND 2 215896697 rs17501532 C A 119 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_015657.3/0;CC=c.-46G>T;VC=5UTR;Gene=ABCA12/NM_173076.2/1;CC=c.986-77G>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:71:45:0:0:38,32,1:1217,1019,12:118.83,0.00,0.01:65.00,0.00,0.11:53.83,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.7,3.3,201.0:0,0,0:0,0,0:76,73,59:69,76,92:44,35,0:NM_173076.2(ABCA12) c.986-77G>T,-:0.01,-:0.01569,- 2 215896811 . A . . NT END=215901676;NT GT ./. 2 215897008 rs5838481 AT A 26 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=102;Gene=ABCA12/NM_173076.2/1;CC=c.986-389delA;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:AT,A:11:0:0:10:3,8:91,320:0.00,26.28:0.00,0.00:0.00,26.28:0.00,1.00:0.00,0.00:0.00,1.00:60,70:20.0,16.9:0,2:0,0:143,114:8,36:2,15:-,NM_173076.2(ABCA12) c.986-389delA:-,NOT_FOUND:-,NOT_FOUND 2 215901592 rs1474331 A G 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_173076.2/1;CC=c.985+85T>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:10,11:336,323:0.00,31.22:0.00,31.22:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.5,34.7:0,0:0,0:21,61:127,89:17,37:-,NM_173076.2(ABCA12) c.985+85T>C:-,0.27:-,NOT_FOUND 2 215901774 rs17501837 C T 44 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.163;Gene=ABCA12/NM_173076.2/1;CC=c.888G>A;ProtCh=p.V296=;VC=Silent;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:28:0:0:29,16:992,492:0.00,44.09:0.00,11.83:0.00,32.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,34.2:0,0:0,0:92,117:53,33:25,18:-,NM_173076.2(ABCA12) c.888G>A (p.(=)):-,0.26:-,0.189759 2 215901790 . C . . NT END=215910560;NT GT ./. 2 215910286 rs6724716 A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_173076.2/1;CC=c.872+275T>C;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,G:5:5:0:0:2,3:35,78:0.00,7.79:0.00,7.79:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:7.0,29.0:0,0:0,0:84,18:65,133:17,16:-,NM_173076.2(ABCA12) c.872+275T>C:-,0.13:-,NOT_FOUND 2 215910724 rs11890512 T G 71 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.959;Gene=ABCA12/NM_173076.2/1;CC=c.709A>C;ProtCh=p.N237H;VC=Missense;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:51:27:0:0:24,27:751,871:71.23,0.00:16.58,0.00:54.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.0,2.5:0,0:0,0:98,95:47,44:24,36:NM_173076.2(ABCA12) c.709A>C (p.Asn237His),-:0.13,-:0.160157,- 2 215910740 . C . . NT END=215914349;NT GT ./. 2 215910786 rs10179876 T C 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_173076.2/1;CC=c.694-47A>G;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:7:0:0:9,14:286,473:26.19,0.00:2.92,0.00:23.27,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:107.4,11.0:0,0:0,0:90,56:61,94:20,28:NM_173076.2(ABCA12) c.694-47A>G,-:0.1,-:0.115538,- 2 215910787 rs10167501 G A 23 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_173076.2/1;CC=c.694-48C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:6:0:0:9,14:250,474:22.55,0.00:1.09,0.00:21.47,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:107.4,11.0:0,0:0,0:91,81:60,67:20,37:NM_173076.2(ABCA12) c.694-48C>T,-:0.1,-:0.121865,- 2 215910839 rs10179889 T A 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.015;Gene=ABCA12/NM_173076.2/1;CC=c.694-100A>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,T:15:2:0:0:6,9:194,287:17.88,0.00:-0.33,0.00:18.21,0.00:0.96,0.00:0.70,0.00:1.00,0.00:60,60:107.5,17.1:0,0:0,0:131,96:19,54:6,18:NM_173076.2(ABCA12) c.694-100A>T,-:0.07,-:NOT_FOUND,- 2 215914536 . C . . NT END=215915517;NT GT ./. 2 215915542 . C . . NT END=215917210;NT GT ./. 2 215917309 . C . . NT END=215919296;NT GT ./. 2 215919166 rs10194592 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_173076.2/1;CC=c.409+131C>T;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:9:9:0:0:4,5:133,156:12.52,0.00:12.65,0.00:-0.13,0.00:0.85,0.00:0.85,0.00:0.63,0.00:60,60:33.2,0.0:0,0:0,0:39,30:111,121:37,7:NM_173076.2(ABCA12) c.409+131C>T,-:0.31,-:NOT_FOUND,- 2 215919389 . C . . NT END=215928788;NT GT ./. 2 215928943 . C . . NT END=215976319;NT GT ./. 2 215928972 rs1523721 G C 158 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_173076.2/1;CC=c.164-30C>G;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:14:0:0:43:1375:157.88:33.30:124.58:1.00:1.00:1.00:60:48.2:0:0:97:53:32:NM_173076.2(ABCA12) c.164-30C>G,NM_173076.2(ABCA12) c.164-30C>G:0.66,0.66:0.643187,0.643187 2 215929028 rs10707207 TA T 108 nt VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=2007;PC=0.416;Gene=ABCA12/NM_173076.2/1;CC=c.164-87delT;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:TA,T:32:3:0:31:1,31:13,953:0.00,108.33:0.00,7.53:0.00,100.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,38.6:1,0:0,0:93,105:54,46:0,37:NM_173076.2(ABCA12) c.164-87delT,NM_173076.2(ABCA12) c.164-87delT:0.66,0.66:NOT_FOUND,NOT_FOUND 2 215970324 rs71041990 GCA G 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=84;PC=0.007;Gene=ABCA12/NM_173076.2/1;CC=c.163+5994_163+5995delTG;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:A,GCA,G:5:5:0:2:1,2,2:34,66,66:2.98,0.00,6.31:3.03,0.00,4.74:-0.05,0.00,1.58:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.70:60,60,60:64.0,39.0,19.5:0,0,0:0,0,0:12,68,51:139,78,99:0,43,35:-,NM_173076.2(ABCA12) c.163+5994_163+5995delTG:-,NOT_FOUND:-,NOT_FOUND 2 215976231 rs2948978 A T 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=ABCA12/NM_173076.2/1;CC=c.163+89T>A;VC=Intron;Gene=ABCA12/NR_103740.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:294:34.10:34.10:0.00:1.00:1.00:0.00:60:33.6:0:0:53:97:31:NM_173076.2(ABCA12) c.163+89T>A,NM_173076.2(ABCA12) c.163+89T>A:0.91,0.91:NOT_FOUND,NOT_FOUND 2 215976414 . C . . NT END=216002862;NT GT ./. 2 216002932 . C . . NT END=216176865;NT GT ./. 2 216140664 rs6712812 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=231 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:163:18.68:11.58:7.10:1.00:1.00:1.00:70:39.6:0:0:32:114:13:chr2 g.216140663G>A (intergenic),chr2 g.216140663G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216148518 rs72288393 AAT A 12 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=28;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AAT,A:5:4:0:4:1,4:34,116:0.00,12.42:0.00,8.10:0.00,4.32:0.00,0.96:0.00,1.00:0.00,0.99:60,60:79.0,51.8:0,0:0,0:84,50:65,82:0,21:-,chr2 g.216148519_216148520delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 216148525 rs10165517 A G 20 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:177:20.08:12.08:8.00:1.00:1.00:1.00:60:57.2:4:0:65:64:22:chr2 g.216148524A>G (intergenic),chr2 g.216148524A>G (intergenic):0.17,0.17:NOT_FOUND,NOT_FOUND 2 216148560 rs148273949 TAGAGAG T 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=101;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TAGAGAG,T:4:3:0:4:1,3:34,89:0.00,9.35:0.00,4.02:0.00,5.33:0.00,0.85:0.00,0.99:0.00,0.99:18,60:35.0,42.3:0,0:0,0:100,81:13,55:0,41:-,chr2 g.216148561_216148566delAGAGAG (intergenic):-,0.41:-,NOT_FOUND 2 216157211 rs55768609 CCA C 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=49;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CCA,C:4:4:0:4:2,2:69,92:0.00,6.41:0.00,2.81:0.00,3.61:0.00,0.46:0.00,0.87:0.00,0.46:60,60:0.0,67.5:0,1:0,0:80,90:19,58:49,3:-,chr2 g.216157212_216157213delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 216176648 rs78631308 A G 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C,G:14:13:0:0:1,13:8,370:0.31,42.60:0.31,38.56:0.00,4.04:0.00,1.00:0.00,1.00:0.00,0.95:60,60:29.0,41.2:0,0:0,0:142,56:9,95:0,24:NM_004044.6(ATIC) c.-187-u31A>G,NM_004044.6(ATIC) c.-187-u31A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 216176885 . G . . NT END=216177220;NT GT ./. 2 216177348 . G . . NT END=216182879;NT GT ./. 2 216182769 rs4672766 A T 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3213;Gene=ATIC/NM_004044.6/1;CC=c.147-111A>T;VC=Intron;DM=ATIC/MGS;DM=ATIC/AICARFT_IMPCHas;DM=ATIC/MGS;DM=ATIC/MGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:435:50.12:50.12:0.00:1.00:1.00:0.00:60:43.4:0:0:24:126:19:NM_004044.6(ATIC) c.147-111A>T,NM_004044.6(ATIC) c.147-111A>T:1,1:NOT_FOUND,NOT_FOUND 2 216182957 . G . . NT END=216184387;NT GT ./. 2 216184222 rs10191233 C T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ATIC/NM_004044.6/1;CC=c.224-166C>T;VC=Intron;DM=ATIC/AICARFT_IMPCHas;DM=ATIC/MGS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:199:22.76:22.76:0.00:1.00:1.00:0.00:60:41.8:0:0:23:127:5:NM_004044.6(ATIC) c.224-166C>T,NM_004044.6(ATIC) c.224-166C>T:0.16,0.16:NOT_FOUND,NOT_FOUND 2 216184455 . G . . NT END=216189963;NT GT ./. 2 216190053 . G . . NT END=216190709;NT GT ./. 2 216190525 rs7563274 G T 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ATIC/NM_004044.6/1;CC=c.380-185G>T;VC=Intron;DM=ATIC/AICARFT_IMPCHas;DM=ATIC/MGS;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G,T:11:11:0:0:1,10:9,302:0.00,33.63:0.00,33.63:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.0,41.5:0,0:0,0:21,69:130,80:0,20:NM_004044.6(ATIC) c.380-185G>T,NM_004044.6(ATIC) c.380-185G>T:0.16,0.16:NOT_FOUND,NOT_FOUND 2 216190654 rs7563206 C T 193 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=ATIC/NM_004044.6/1;CC=c.380-56C>T;VC=Intron;DM=ATIC/AICARFT_IMPCHas;DM=ATIC/MGS;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:G,T:55:51:0:0:1,54:9,1674:0.13,192.69:0.13,157.03:0.00,35.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:263.0,67.9:0,0:0,0:38,33:93,115:0,21:NM_004044.6(ATIC) c.380-56C>T,NM_004044.6(ATIC) c.380-56C>T:0.43,0.43:NOT_FOUND,NOT_FOUND 2 216190691 rs2177737 A C 273 nt VT=SNV;PN=A;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=3484;Gene=ATIC/NM_004044.6/1;CC=c.380-19A>C;VC=Intron;DM=ATIC/AICARFT_IMPCHas;DM=ATIC/MGS;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:73:67:0:0:73:2378:272.55:205.15:67.40:1.00:1.00:1.00:60:62.1:0:0:56:95:25:NM_004044.6(ATIC) c.380-19A>C,NM_004044.6(ATIC) c.380-19A>C:1,1:0.999846,0.999846 2 216190862 . G . . NT END=216191544;NT GT ./. 2 216191263 rs4672767 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ATIC/NM_004044.6/1;CC=c.532-282G>A;VC=Intron;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:107:12.58:12.58:0.00:1.00:1.00:0.00:60:58.8:0:0:54:96:36:NM_004044.6(ATIC) c.532-282G>A,NM_004044.6(ATIC) c.532-282G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 2 216191515 rs6751557 C T 231 nt VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;Gene=ATIC/NM_004044.6/1;CC=c.532-30C>T;VC=Intron;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:T:63:52:0:0:63:2006:230.52:149.90:80.63:1.00:1.00:1.00:60:38.0:0:0:57:90:26:NM_004044.6(ATIC) c.532-30C>T,NM_004044.6(ATIC) c.532-30C>T:0.44,0.44:0.502845,0.502845 2 216191702 . G . . NT END=216197104;NT GT ./. 2 216197231 . G . . NT END=216198072;NT GT ./. 2 216198049 rs10179873 A G 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ATIC/NM_004044.6/1;CC=c.815-24A>G;VC=Intron;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:24:0:0:28:942:107.55:73.89:33.65:1.00:1.00:1.00:60:41.1:0:0:48:102:33:NM_004044.6(ATIC) c.815-24A>G,NM_004044.6(ATIC) c.815-24A>G:0.18,0.18:0.260572,0.260572 2 216198181 . G . . NT END=216199641;NT GT ./. 2 216199728 . G . . NT END=216200757;NT GT ./. 2 216199881 rs7594036 T G 46 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=800;Gene=ATIC/NM_004044.6/1;CC=c.1008+154T>G;VC=Intron;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:407:46.42:0.00:46.42:1.00:0.00:1.00:60:49.7:0:0:70:80:12:NM_004044.6(ATIC) c.1008+154T>G,NM_004044.6(ATIC) c.1008+154T>G:1,1:NOT_FOUND,NOT_FOUND 2 216200848 . G . . NT END=216203501;NT GT ./. 2 216203631 . G . . NT END=216209501;NT GT ./. 2 216203894 rs1568872 A G 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=580;Gene=ATIC/NM_004044.6/1;CC=c.1227+264A>G;VC=Intron;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:189:21.73:0.00:21.73:1.00:0.00:1.00:60:37.8:0:0:113:38:6:NM_004044.6(ATIC) c.1227+264A>G,NM_004044.6(ATIC) c.1227+264A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 216209303 rs12471482 T C 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ATIC/NM_004044.6/1;CC=c.1228-199T>C;VC=Intron;DM=ATIC/AICARFT_IMPCHas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:8:0:0:8:250:28.77:28.77:0.00:1.00:1.00:0.00:60:38.1:0:0:49:102:23:NM_004044.6(ATIC) c.1228-199T>C,NM_004044.6(ATIC) c.1228-199T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 216209595 . G . . NT END=216211481;NT GT ./. 2 216211665 . G . . NT END=216213816;NT GT ./. 2 216211712 rs10932609 A T 172 nt VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=3475;Gene=ATIC/NM_004044.6/1;CC=c.1503+48A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:T:48:10:0:0:48:1496:172.41:21.84:150.57:1.00:1.00:1.00:60:36.8:0:0:107:43:30:NM_004044.6(ATIC) c.1503+48A>T,NM_004044.6(ATIC) c.1503+48A>T:1,1:0.999846,0.999846 2 216213678 . TA T 13 rn VT=DEL;SST=Single;DP=19;NP=2;PC=0.461;Gene=ATIC/NM_004044.6/1;CC=c.1504-126delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,TA,I,T:19:19:2:5:1,11,2,5:22,366,61,145:1.15,0.00,4.57,12.53:1.15,0.00,4.57,12.53:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.00:60,60,60,70:97.0,18.1,11.5,22.8:1,0,0,0:0,0,0,0:33,32,25,40:118,119,126,109:0,14,5,29:-,NM_004044.6(ATIC) c.1504-138delA:-,NOT_FOUND:-,NOT_FOUND 2 216213973 . G . . NT END=216214258;NT GT ./. 2 216214379 . T . . NT END=216226277;NT GT ./. 2 216214492 rs10498036 T G 88 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=ATIC/NM_004044.6/1;CC=c.*114T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:3:0:0:24:762:87.60:9.09:78.51:1.00:1.00:1.00:60:35.5:1:0:106:45:26:NM_004044.6(ATIC) c.*114T>G,NM_004044.6(ATIC) c.*114T>G:0.66,0.66:NOT_FOUND,NOT_FOUND 2 216226350 . C . . NT END=216226572;NT GT ./. 2 216226584 . G GT 7 rn VT=INS;SST=Single;DP=36;NP=1;NP=3;Gene=FN1/NM_001306129.1/0;CC=c.7269+107_7269+108insA;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6732+107_6732+108insA;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6726+107_6726+108insA;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6651+107_6651+108insA;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6996+107_6996+108insA;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.6459+107_6459+108insA;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6819+107_6819+108insA;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6921+107_6921+108insA;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.7362+107_7362+108insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:G,GT,D:36:30:3:1:32,3,1:1051,97,34:0.00,6.69,1.93:0.00,5.61,2.04:0.00,1.08,-0.10:0.00,0.39,0.00:0.00,0.82,0.00:0.00,0.56,0.00:60,60,60:35.4,27.0,0.0:0,0,0:0,0,0:38,59,100:111,92,51:23,31,0:-,NM_212482.1(FN1) c.7362+107_7362+108insA:-,NOT_FOUND:-,NOT_FOUND 2 216226642 rs13394662 A C 207 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.7269+50T>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6732+50T>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6726+50T>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6651+50T>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6996+50T>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.6459+50T>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6819+50T>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6921+50T>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.7362+50T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C,T:56:49:0:0:55,1:1813,8:207.04,0.10:166.42,0.10:40.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,33.0:0,0:0,0:58,61:86,90:30,0:NM_212482.1(FN1) c.7362+50T>G,NM_212482.1(FN1) c.7362+50T>G:0.23,0.23:0.325465,0.325465 2 216226803 . C . . NT END=216229600;NT GT ./. 2 216229709 . C . . NT END=216230226;NT GT ./. 2 216229850 rs7579867 C T 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.002;Gene=FN1/NM_001306129.1/0;CC=c.7052-142G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6515-142G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6509-142G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6434-142G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6779-142G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.6242-142G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6602-142G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6704-142G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.7145-142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:2:0:0:16:464:53.96:6.25:47.71:1.00:1.00:1.00:60:45.6:0:0:75:75:35:NM_212482.1(FN1) c.7145-142G>A,NM_212482.1(FN1) c.7145-142G>A:0.16,0.16:NOT_FOUND,NOT_FOUND 2 216230081 rs7594168 T C 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.7051+147A>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6514+147A>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6508+147A>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6433+147A>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6778+147A>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.6241+147A>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6601+147A>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6703+147A>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.7144+147A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:300:34.73:34.73:0.00:1.00:1.00:0.00:60:31.0:0:0:75:75:45:NM_212482.1(FN1) c.7144+147A>G,NM_212482.1(FN1) c.7144+147A>G:0.17,0.17:NOT_FOUND,NOT_FOUND 2 216230354 . C . . NT END=216232584;NT GT ./. 2 216230534 rs10581104 T A 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=60;PC=0.008;Gene=FN1/NM_001306129.1/0;CC=c.6926-181A>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6389-181A>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6383-181A>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6308-181A>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6653-181A>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.6116-181A>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6476-181A>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6578-181A>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.7019-181A>T;VC=Intron;DM=FN1/fn1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A,T:16:0:0:0:15,1:486,25:54.14,0.00:0.00,0.00:54.14,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.6,28.0:0,0:0,0:128,1:23,149:14,0:NM_212482.1(FN1) c.7019-181A>T,NM_212482.1(FN1) c.7019-181A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216232556 rs7568287 C T 193 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.6925+30G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6388+30G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6382+30G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6307+30G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6652+30G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.6115+30G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6475+30G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6577+30G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.7018+30G>A;VC=Intron;DM=FN1/fn1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:T:54:47:0:0:54:1679:193.50:142.54:50.96:1.00:1.00:1.00:60:36.5:0:0:35:116:19:NM_212482.1(FN1) c.7018+30G>A,NM_212482.1(FN1) c.7018+30G>A:0.17,0.17:0.25173,0.25173 2 216232751 . C . . NT END=216235015;NT GT ./. 2 216235089 rs1250209 C T 343 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=NA;NP=3479;PC=1.000;Gene=FN1/NM_001306129.1/0;CC=c.6688G>A;ProtCh=p.V2230I;VC=Missense;Gene=FN1/NM_001306130.1/0;CC=c.6151G>A;ProtCh=p.V2051I;VC=Missense;Gene=FN1/NM_001306131.1/0;CC=c.6145G>A;ProtCh=p.V2049I;VC=Missense;Gene=FN1/NM_001306132.1/0;CC=c.6070G>A;ProtCh=p.V2024I;VC=Missense;Gene=FN1/NM_002026.2/0;CC=c.6415G>A;ProtCh=p.V2139I;VC=Missense;Gene=FN1/NM_212474.1/0;CC=c.5878G>A;ProtCh=p.V1960I;VC=Missense;Gene=FN1/NM_212476.1/0;CC=c.6238G>A;ProtCh=p.V2080I;VC=Missense;Gene=FN1/NM_212478.1/0;CC=c.6340G>A;ProtCh=p.V2114I;VC=Missense;Gene=FN1/NM_212482.1/1;CC=c.6781G>A;ProtCh=p.V2261I;VC=Missense;DM=FN1/fn1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:92:58:0:0:1,91:11,3002:0.14,343.09:0.14,151.11:0.00,191.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.0,40.0:0,0:0,0:115,74:34,75:0,30:NM_212482.1(FN1) c.=,NM_212482.1(FN1) c.=:1,1:0.999846,0.999846 2 216235156 . C . . NT END=216236630;NT GT ./. 2 216235277 . CA C 18 rn VT=DEL;SST=Single;DP=22;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.6622-123delT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6085-123delT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6079-123delT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6004-123delT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6349-123delT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5812-123delT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6172-123delT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6274-123delT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.6715-123delT;VC=Intron;DM=FN1/fn1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,CA,I,C:22:3:2:7:1,12,2,7:34,264,60,204:2.30,0.00,4.39,18.30:-0.02,0.00,-0.04,4.85:2.32,0.00,4.43,13.44:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.71:0.00,0.00,0.00,1.00:60,60,60,70:159.0,47.1,55.0,50.6:0,1,0,0:0,0,0,0:64,64,102,129:87,80,38,22:0,32,16,5:-,NM_212482.1(FN1) c.6715-123delT:-,NOT_FOUND:-,NOT_FOUND 2 216235388 rs1313044 A G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.6622-233T>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6085-233T>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6079-233T>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6004-233T>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6349-233T>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5812-233T>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6172-233T>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6274-233T>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.6715-233T>C;VC=Intron;DM=FN1/fn1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:245:27.84:0.00:27.84:1.00:0.00:1.00:60:39.3:0:0:105:46:37:NM_212482.1(FN1) c.6715-233T>C,NM_212482.1(FN1) c.6715-233T>C:0.67,0.67:NOT_FOUND,NOT_FOUND 2 216236532 rs10804241 G A 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.6621+100C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.6084+100C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.6078+100C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.6003+100C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.6348+100C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5811+100C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.6171+100C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.6273+100C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.6714+100C>T;VC=Intron;DM=FN1/fn1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:24:0:0:11,13:380,383:36.07,0.00:36.20,0.00:-0.13,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:37.5,5.0:0,0:0,0:54,57:97,94:34,20:NM_212482.1(FN1) c.6714+100C>T,-:0.39,-:NOT_FOUND,- 2 216237099 . C . . NT END=216238043;NT GT ./. 2 216237929 rs2289199 A T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.6247+116T>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5977+116T>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.5704+116T>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.5704+116T>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5974+116T>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5704+116T>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.5704+116T>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5974+116T>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.6247+116T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:A,T:16:16:0:0:11,5:350,162:0.00,14.27:0.00,14.27:0.00,0.00:0.00,0.88:0.00,0.88:0.00,0.00:60,60:23.0,35.2:0,0:0,0:68,24:82,127:34,9:-,NM_212482.1(FN1) c.6247+116T>A:-,0.39:-,NOT_FOUND 2 216238135 . C . . NT END=216239935;NT GT ./. 2 216238320 rs7349218 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.6158-186T>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5888-186T>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.5615-186T>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.5615-186T>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5885-186T>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5615-186T>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.5615-186T>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5885-186T>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.6158-186T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,G:11:0:0:0:7,4:232,137:0.00,12.48:0.00,0.00:0.00,12.48:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.9,53.5:0,0:0,0:84,95:66,55:25,26:-,NM_212482.1(FN1) c.6158-186T>C:-,0.42:-,NOT_FOUND 2 216239759 rs10201850 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.6157+178T>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5887+178T>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.5614+178T>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.5614+178T>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5884+178T>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5614+178T>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.5614+178T>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5884+178T>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.6157+178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,G:9:9:0:0:4,5:112,138:0.00,13.50:0.00,13.50:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:22.2,55.4:0,0:0,0:27,38:124,111:6,8:-,NM_212482.1(FN1) c.6157+178T>C:-,0.15:-,NOT_FOUND 2 216240117 . C . . NT END=216240350;NT GT ./. 2 216240126 rs71044591 AAC A 102 nt VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1472;PC=0.003;Gene=FN1/NM_001306129.1/0;CC=c.5978-12_5978-11delGT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5708-12_5708-11delGT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.5435-12_5435-11delGT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.5435-12_5435-11delGT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5705-12_5705-11delGT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5435-12_5435-11delGT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.5435-12_5435-11delGT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5705-12_5705-11delGT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.5978-12_5978-11delGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,A:63:28:0:33:30,33:952,1050:0.00,101.81:0.00,31.84:0.00,69.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,8.7:0,0:0,0:85,99:55,52:25,20:-,NM_212482.1(FN1) c.5978-12_5978-11delGT:-,0.43:-,0.244968 2 216240442 . C . . NT END=216241219;NT GT ./. 2 216240584 rs6707530 T G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.5888-143A>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5618-143A>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.5345-143A>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.5345-143A>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5615-143A>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5345-143A>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.5345-143A>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5615-143A>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.5888-143A>C;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:G,T:10:0:0:0:5,5:165,137:15.91,0.00:0.00,0.00:15.91,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.0,16.8:0,0:0,0:107,110:41,40:23,28:NM_212482.1(FN1) c.5888-143A>C,-:0.46,-:NOT_FOUND,- 2 216241398 . C . . NT END=216242896;NT GT ./. 2 216242917 rs1132741 T A 45 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.554;Gene=FN1/NM_001306129.1/0;CC=c.5691A>T;ProtCh=p.G1897=;VC=Silent;Gene=FN1/NM_001306130.1/0;CC=c.5421A>T;ProtCh=p.G1807=;VC=Silent;Gene=FN1/NM_001306131.1/0;CC=c.5148A>T;ProtCh=p.G1716=;VC=Silent;Gene=FN1/NM_001306132.1/0;CC=c.5148A>T;ProtCh=p.G1716=;VC=Silent;Gene=FN1/NM_002026.2/0;CC=c.5418A>T;ProtCh=p.G1806=;VC=Silent;Gene=FN1/NM_212474.1/0;CC=c.5148A>T;ProtCh=p.G1716=;VC=Silent;Gene=FN1/NM_212476.1/0;CC=c.5148A>T;ProtCh=p.G1716=;VC=Silent;Gene=FN1/NM_212478.1/0;CC=c.5418A>T;ProtCh=p.G1806=;VC=Silent;Gene=FN1/NM_212482.1/1;CC=c.5691A>T;ProtCh=p.G1897=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:20:0:0:14,10:454,312:44.97,0.00:25.64,0.00:19.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,3.8:0,0:0,0:60,56:89,88:22,34:NM_212482.1(FN1) c.5691A>T (p.(=)),-:0.39,-:0.189912,- 2 216242986 . C . . NT END=216243851;NT GT ./. 2 216243650 rs2304573 A G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.5622+203T>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5352+203T>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.5079+203T>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.5079+203T>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5349+203T>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5079+203T>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.5079+203T>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5349+203T>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.5622+203T>C;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:9:9:0:0:4,5:104,177:0.00,17.43:0.00,17.43:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:15.8,37.4:0,0:0,0:19,36:131,111:9,15:-,NM_212482.1(FN1) c.5622+203T>C:-,0.42:-,NOT_FOUND 2 216243832 rs1250204 T C 228 nt VT=SNV;PN=A;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.002;Gene=FN1/NM_001306129.1/0;CC=c.5622+21A>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5352+21A>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.5079+21A>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.5079+21A>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5349+21A>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.5079+21A>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.5079+21A>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5349+21A>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.5622+21A>G;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:C:64:56:0:0:64:1974:227.76:171.56:56.20:1.00:1.00:1.00:60:37.8:0:0:46:102:20:NM_212482.1(FN1) c.5622+21A>G,NM_212482.1(FN1) c.5622+21A>G:0.94,0.94:0.92911,0.92911 2 216244041 . C . . NT END=216245532;NT GT ./. 2 216244181 rs56886513 AGTAC A 48 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1437;PC=0.005;Gene=FN1/NM_001306129.1/0;CC=c.5435-145_5435-142delGTAC;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5165-145_5165-142delGTAC;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4892-145_4892-142delGTAC;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4892-145_4892-142delGTAC;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5162-145_5162-142delGTAC;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4892-145_4892-142delGTAC;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4892-145_4892-142delGTAC;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5162-145_5162-142delGTAC;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.5435-145_5435-142delGTAC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTAC,A:23:0:0:15:8,15:251,475:0.00,48.21:0.00,0.00:0.00,48.21:0.00,1.00:0.00,0.00:0.00,1.00:60,70:24.9,6.3:0,0:0,0:143,105:5,46:4,18:-,NM_212482.1(FN1) c.5435-145_5435-142delGTAC:-,0.82:-,NOT_FOUND 2 216245392 rs3732355 C T 48 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.5434+142G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.5165-1352G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4892-1352G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4892-1352G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.5161+142G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4892-1352G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4892-1352G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.5161+142G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.5434+142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:30:0:0:15,15:443,502:0.00,48.34:0.00,48.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.5,47.4:0,0:0,0:46,54:105,96:35,41:-,NM_212482.1(FN1) c.5434+142G>A:-,0.43:-,NOT_FOUND 2 216245804 . C . . NT END=216246933;NT GT ./. 2 216247049 . C . . NT END=216248049;NT GT ./. 2 216248207 . C . . NT END=216248741;NT GT ./. 2 216248305 rs1250203 G T 121 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.4895-99C>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4895-99C>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4622-99C>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4622-99C>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4622-99C>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4622-99C>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4622-99C>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4622-99C>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4895-99C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:6:0:0:35:1043:120.86:13.47:107.39:1.00:1.00:1.00:60:51.0:0:0:121:29:18:NM_212482.1(FN1) c.4895-99C>A,NM_212482.1(FN1) c.4895-99C>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 216248460 rs13432972 A C 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.006;Gene=FN1/NM_001306129.1/0;CC=c.4895-254T>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4895-254T>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4622-254T>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4622-254T>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4622-254T>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4622-254T>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4622-254T>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4622-254T>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4895-254T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C:8:4:0:0:5,3:161,101:0.00,9.23:0.00,2.74:0.00,6.49:0.00,0.67:0.00,0.85:0.00,0.85:60,60:0.0,41.3:0,0:0,0:35,111:115,40:18,33:-,NM_212482.1(FN1) c.4895-254T>G:-,0.15:-,NOT_FOUND 2 216248606 rs13018173 T C 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.4894+137A>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4894+137A>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4621+137A>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4621+137A>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4621+137A>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4621+137A>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4621+137A>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4621+137A>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4894+137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:8,7:251,242:24.41,0.00:24.41,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.5,6.9:0,0:0,0:56,65:93,85:22,22:NM_212482.1(FN1) c.4894+137A>G,-:0.42,-:NOT_FOUND,- 2 216248707 rs35639338 TAA T 69 nt VT=DEL;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1598;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.4894+34_4894+35delTT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4894+34_4894+35delTT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4621+34_4621+35delTT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4621+34_4621+35delTT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4621+34_4621+35delTT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4621+34_4621+35delTT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4621+34_4621+35delTT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4621+34_4621+35delTT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4894+34_4894+35delTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAA,T:56:50:0:24:32,24:988,740:0.00,68.85:0.00,54.46:0.00,14.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,17.9:0,0:0,0:33,44:116,105:27,17:-,NM_212482.1(FN1) c.4894+34_4894+35delTT:-,0.42:-,0.239856 2 216248908 . C . . NT END=216249581;NT GT ./. 2 216249235 rs374578800 CAG C 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;Gene=FN1/NM_001306129.1/0;CC=c.4730-330_4730-329delCT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4730-330_4730-329delCT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4457-330_4457-329delCT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4457-330_4457-329delCT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4457-330_4457-329delCT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4457-330_4457-329delCT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4457-330_4457-329delCT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4457-330_4457-329delCT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4730-330_4730-329delCT;VC=Intron;DM=FN1/fn3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CAG,C:4:2:0:3:1,3:33,89:0.00,9.35:0.00,2.95:0.00,6.40:0.00,0.85:0.00,0.95:0.00,0.95:60,60:51.0,16.0:0,0:0,0:15,50:136,101:0,6:-,NM_212482.1(FN1) c.4730-330_4730-329delCT:-,0.42:-,NOT_FOUND 2 216249587 rs13652 C T 273 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=1.000;Gene=FN1/NM_001306129.1/0;CC=c.4725G>A;ProtCh=p.E1575=;VC=Silent;Gene=FN1/NM_001306130.1/0;CC=c.4725G>A;ProtCh=p.E1575=;VC=Silent;Gene=FN1/NM_001306131.1/0;CC=c.4452G>A;ProtCh=p.E1484=;VC=Silent;Gene=FN1/NM_001306132.1/0;CC=c.4452G>A;ProtCh=p.E1484=;VC=Silent;Gene=FN1/NM_002026.2/0;CC=c.4452G>A;ProtCh=p.E1484=;VC=Silent;Gene=FN1/NM_212474.1/0;CC=c.4452G>A;ProtCh=p.E1484=;VC=Silent;Gene=FN1/NM_212476.1/0;CC=c.4452G>A;ProtCh=p.E1484=;VC=Silent;Gene=FN1/NM_212478.1/0;CC=c.4452G>A;ProtCh=p.E1484=;VC=Silent;Gene=FN1/NM_212482.1/1;CC=c.4725G>A;ProtCh=p.E1575=;VC=Silent;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:74:66:0:0:74:2378:273.08:189.49:83.59:1.00:1.00:1.00:60:35.7:0:0:40:105:24:NM_212482.1(FN1) c.4725G>A (p.(=)),NM_212482.1(FN1) c.4725G>A (p.(=)):0.89,0.89:0.8493,0.8493 2 216249700 . C . . NT END=216251410;NT GT ./. 2 216249819 rs1250201 C T 83 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.4613-120G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4613-120G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4340-120G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4340-120G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4340-120G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4340-120G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4340-120G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4340-120G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4613-120G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:0:0:0:22:730:83.45:0.00:83.45:1.00:0.00:1.00:60:34.9:0:0:117:33:16:NM_212482.1(FN1) c.4613-120G>A,NM_212482.1(FN1) c.4613-120G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 216251682 . C . . NT END=216252933;NT GT ./. 2 216251697 rs35343655 G A 102 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.4343-16C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4343-16C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4070-16C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4070-16C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4070-16C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4070-16C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4070-16C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4070-16C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4343-16C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:29:0:0:34,42:1089,1203:102.49,0.00:33.20,0.00:69.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,24.9:0,0:0,0:99,80:49,66:27,27:NM_212482.1(FN1) c.4343-16C>T,-:0.42,-:0.239812,- 2 216252756 rs2888354 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.4342+179A>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4342+179A>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.4069+179A>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.4069+179A>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.4069+179A>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.4069+179A>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.4069+179A>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.4069+179A>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4342+179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:95,34:9.95,0.00:9.95,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:55.7,0.0:0,0:0,0:73,134:71,17:7,0:NM_212482.1(FN1) c.4342+179A>G,-:0.43,-:NOT_FOUND,- 2 216253025 . C . . NT END=216256353;NT GT ./. 2 216253039 rs1250215 G C 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.4253-15C>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4253-15C>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3980-15C>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3980-15C>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3980-15C>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3980-15C>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3980-15C>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3980-15C>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4253-15C>G;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:23:0:0:18,15:588,489:57.51,0.00:22.07,0.00:35.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,3.9:0,0:0,0:93,118:54,33:29,10:NM_212482.1(FN1) c.4253-15C>G,-:0.4,-:0.524143,- 2 216256538 . C . . NT END=216257652;NT GT ./. 2 216256615 rs6709607 T C 112 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.4070-78A>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4070-78A>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3797-78A>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3797-78A>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3797-78A>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3797-78A>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3797-78A>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3797-78A>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4070-78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A,C:33:4:0:0:1,32:9,974:0.20,112.13:0.00,10.29:0.20,101.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:174.0,47.6:0,0:0,0:46,109:104,35:0,20:NM_212482.1(FN1) c.4070-78A>G,NM_212482.1(FN1) c.4070-78A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 216256707 rs10804242 T C 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.078;Gene=FN1/NM_001306129.1/0;CC=c.4070-170A>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.4070-170A>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3797-170A>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3797-170A>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3797-170A>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3797-170A>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3797-170A>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3797-170A>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.4070-170A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:325:37.23:0.00:37.23:1.00:0.00:1.00:60:92.1:0:0:126:24:15:NM_212482.1(FN1) c.4070-170A>G,NM_212482.1(FN1) c.4070-170A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 216257927 . C . . NT END=216259249;NT GT ./. 2 216258150 rs138259153 A AAT 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;NP=337;PC=0.062;Gene=FN1/NM_001306129.1/0;CC=c.3797-225_3797-224insAT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3797-225_3797-224insAT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3796+1100_3796+1101insAT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3796+1100_3796+1101insAT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3796+1100_3796+1101insAT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3796+1100_3796+1101insAT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3796+1100_3796+1101insAT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3796+1100_3796+1101insAT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3797-225_3797-224insAT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,AAT:5:0:3:0:2,3:62,95:0.00,9.47:0.00,0.00:0.00,9.47:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,11.0:0,0:0,0:101,121:49,29:45,4:-,NM_212482.1(FN1) c.3797-225_3797-224insAT:-,NOT_FOUND:-,NOT_FOUND 2 216259443 . C . . NT END=216261858;NT GT ./. 2 216261845 . C G 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;Gene=FN1/NM_001306129.1/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3604+15G>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3604+15G>C;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:28:22:0:0:14,13,1:404,444,10:0.00,42.52,0.07:0.00,29.31,0.17:0.00,13.21,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:17.9,53.4,228.0:0,0,0:0,0,0:43,63,133:106,88,18:20,25,0:-,NM_212482.1(FN1) c.3604+15G>C:-,NOT_FOUND:-,NOT_FOUND 2 216261947 . C . . NT END=216262401;NT GT ./. 2 216262124 rs58022724 TTC T 18 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=224;Gene=FN1/NM_001306129.1/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3518-180_3518-179delGA;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3518-180_3518-179delGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:TTC,T:8:3:0:6:2,6:65,166:0.00,17.50:0.00,9.05:0.00,8.45:0.00,1.00:0.00,0.99:0.00,1.00:60,60:31.5,54.7:0,0:0,0:117,79:33,71:27,32:-,NM_212482.1(FN1) c.3518-180_3518-179delGA:-,0.47:-,NOT_FOUND 2 216262572 . C . . NT END=216263978;NT GT ./. 2 216262621 rs6725958 A C 182 nt VT=SNV;PN=G;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3349-50T>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3349-50T>G;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C:49:10:0:0:49:1589:182.26:23.91:158.35:1.00:1.00:1.00:60:36.3:0:0:103:39:26:NM_212482.1(FN1) c.3349-50T>G,NM_212482.1(FN1) c.3349-50T>G:0.7,0.7:0.589958,0.589958 2 216263926 rs2692224 C A 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.005;Gene=FN1/NM_001306129.1/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3348+54G>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3348+54G>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:16:0:0:17:540:62.10:58.73:3.38:1.00:1.00:1.00:60:42.8:0:0:41:110:38:NM_212482.1(FN1) c.3348+54G>T,NM_212482.1(FN1) c.3348+54G>T:0.68,0.68:0.553219,0.553219 2 216263938 rs397708033 C CT 72 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2803;Gene=FN1/NM_001306129.1/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3348+41dupA;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3348+41dupA;VC=Intron;DM=FN1/fn3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C,CT:21:20:20:0:1,20:33,641:0.00,71.88:0.00,58.43:0.00,13.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,33.2:0,0:0,0:150,45:1,105:0,35:NM_212482.1(FN1) c.3348+41_3348+42insA,NM_212482.1(FN1) c.3348+41_3348+42insA:NOT_FOUND,NOT_FOUND:0.557827,0.557827 2 216264075 . C . . NT END=216269110;NT GT ./. 2 216268902 rs7575234 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3253+210G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3253+210G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:11:11:0:0:6,5:190,161:0.00,15.19:0.00,15.19:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:4.8,61.0:0,0:0,0:74,26:76,125:44,18:-,NM_212482.1(FN1) c.3253+210G>A:-,0.45:-,NOT_FOUND 2 216269031 rs7575551 G T 39 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=596;Gene=FN1/NM_001306129.1/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3253+81C>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3253+81C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:32:29:0:1:18,14:572,416:0.00,38.72:0.00,37.96:0.00,0.76:0.00,1.00:0.00,1.00:0.00,0.96:60,60:15.8,73.5:0,1:0,0:48,88:102,62:30,34:-,NM_212482.1(FN1) c.3253+81C>A:-,NOT_FOUND:-,NOT_FOUND 2 216269033 rs72943909 T G 33 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=623;Gene=FN1/NM_001306129.1/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.3253+79A>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.3253+79A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T,I:31:29:2:0:12,18,1:362,494,57:33.14,0.00,2.13:32.13,0.00,2.18:1.02,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:0.93,0.00,0.00:60,60,60:78.2,10.4,102.0:0,0,2:0,0,0:80,45,110:70,106,40:36,30,0:NM_212482.1(FN1) c.3253+79A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 216269379 . C . . NT END=216270959;NT GT ./. 2 216271234 . C . . NT END=216271848;NT GT ./. 2 216272045 . C . . NT END=216272829;NT GT ./. 2 216272669 rs150302454 CA C 11 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.2518+161delT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.2518+161delT;VC=Intron;DM=FN1/fn3;DM=FN1/fn3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:CA,C:10:10:0:4:6,4:177,119:0.00,10.89:0.00,9.25:0.00,1.64:0.00,0.84:0.00,0.84:0.00,0.60:60,60:36.8,19.0:6,0:0,0:51,55:99,89:36,16:-,NM_212482.1(FN1) c.2518+161delT:-,0.79:-,NOT_FOUND 2 216272670 rs201763639 AC A 19 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=128;Gene=FN1/NM_001306129.1/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.2518+160delG;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.2518+160delG;VC=Intron;DM=FN1/fn3;DM=FN1/fn3;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:10:6:162:19.04:19.04:0.00:1.00:1.00:0.00:60:36.8:0:0:52:98:36:NM_212482.1(FN1) c.2518+160delG,NM_212482.1(FN1) c.2518+160delG:0.63,0.63:NOT_FOUND,NOT_FOUND 2 216272677 rs72346185 CCA C 21 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=58;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.2518+152_2518+153delTG;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.2518+152_2518+153delTG;VC=Intron;DM=FN1/fn3;DM=FN1/fn3;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:CCA,C:9:12:0:10:2,7:22,283:0.00,20.67:0.00,18.90:0.00,1.77:0.00,0.99:0.00,0.99:0.00,0.72:60,60:35.5,41.1:0,9:0,0:104,43:47,92:43,27:-,NM_212482.1(FN1) c.2518+152_2518+153delTG:-,NOT_FOUND:-,NOT_FOUND 2 216272819 rs7570208 C G 159 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.2518+12G>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.2518+12G>C;VC=Intron;DM=FN1/fn3;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:G:41:36:0:0:41:1391:158.65:108.75:49.90:1.00:1.00:1.00:60:62.8:0:0:62:89:21:NM_212482.1(FN1) c.2518+12G>C,NM_212482.1(FN1) c.2518+12G>C:0.71,0.71:0.606797,0.606797 2 216272900 rs2577301 T G 217 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=3482;PC=1.000;Gene=FN1/NM_001306129.1/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_001306130.1/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_001306131.1/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_001306132.1/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_002026.2/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_212474.1/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_212476.1/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_212478.1/0;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;Gene=FN1/NM_212482.1/1;CC=c.2449A>C;ProtCh=p.T817P;VC=Missense;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:41:0:0:59:1888:216.87:115.78:101.09:1.00:1.00:1.00:60:61.4:0:0:74:77:36:NM_212482.1(FN1) c.=,NM_212482.1(FN1) c.=:1,1:0.999923,0.999923 2 216272907 rs7596677 A T 69 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.030;Gene=FN1/NM_001306129.1/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_001306130.1/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_001306131.1/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_001306132.1/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_002026.2/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_212474.1/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_212476.1/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_212478.1/0;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;Gene=FN1/NM_212482.1/1;CC=c.2442T>A;ProtCh=p.P814=;VC=Silent;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:62:43:0:0:38,24:1275,758:0.00,69.27:0.00,43.59:0.00,25.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.1,74.2:0,0:0,0:75,78:74,73:38,24:-,NM_212482.1(FN1) c.2442T>A (p.(=)):-,0.47:-,0.252191 2 216272921 . C . . NT END=216273019;NT GT ./. 2 216273150 . C . . NT END=216274284;NT GT ./. 2 216273452 rs940740 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.2300-303C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.2300-303C>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:6:0:0:0:4,2:135,64:13.75,0.00:0.00,0.00:13.75,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:35.8,0.0:0,0:0,0:110,104:40,46:25,41:NM_212482.1(FN1) c.2300-303C>T,-:0.21,-:NOT_FOUND,- 2 216274463 . C . . NT END=216274655;NT GT ./. 2 216274838 . C . . NT END=216279383;NT GT ./. 2 216274853 rs71399200 AAC A 101 idl,rn VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=278;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1942-18_1942-17delGT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1942-18_1942-17delGT;VC=Intron;DM=FN1/fn3;DM=FN1/fn3;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAC,A:80:39:0:41:44,36:1300,1211:0.00,101.37:0.00,27.10:0.00,74.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,10.2:0,4:0,0:92,83:48,66:27,22:-,NM_212482.1(FN1) c.1942-18_1942-17delGT:-,NOT_FOUND:-,NOT_FOUND 2 216279682 . C . . NT END=216283963;NT GT ./. 2 216283958 rs3796123 T A 109 nt VT=SNV;PN=C;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=NA;PC=0.730;Gene=FN1/NM_001306129.1/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1819+7A>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.1819+7A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:69:52:0:0:34,35:1136,1158:109.05,0.00:68.17,0.00:40.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.1,7.0:0,0:0,0:80,50:67,94:33,32:NM_212482.1(FN1) c.1819+7A>T,-:0.46,-:0.23543,- 2 216284109 . C . . NT END=216285394;NT GT ./. 2 216284284 rs78640793 TA T 28 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=174;Gene=FN1/NM_001306129.1/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1676-177delT;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.1676-177delT;VC=Intron;DM=FN1/fn3;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:TA,T:15:0:0:9:6,9:185,277:0.00,27.61:0.00,0.00:0.00,27.61:0.00,1.00:0.00,0.00:0.00,1.00:60,70:41.2,4.8:0,0:0,0:94,92:56,59:32,39:-,NM_212482.1(FN1) c.1676-177delT:-,NOT_FOUND:-,NOT_FOUND 2 216285525 . C . . NT END=216286812;NT GT ./. 2 216285729 rs13416478 C T 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1547-205G>A;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.1547-205G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,C,T:12:0:0:0:1,6,5:17,188,164:0.89,0.00,15.48:0.00,0.00,0.00:0.89,0.00,15.48:0.00,0.00,0.92:0.00,0.00,0.00:0.00,0.00,0.92:60,60,60:271.0,19.0,39.6:0,0,0:0,0,0:70,92,49:81,59,101:0,36,19:-,NM_212482.1(FN1) c.1547-205G>A:-,0.18:-,NOT_FOUND 2 216286967 . C . . NT END=216288071;NT GT ./. 2 216287093 rs1250248 A G 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1394-127T>C;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.1394-127T>C;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:0:0:0:15:481:55.23:0.00:55.23:1.00:0.00:1.00:60:64.0:0:0:116:35:30:NM_212482.1(FN1) c.1394-127T>C,NM_212482.1(FN1) c.1394-127T>C:0.84,0.84:NOT_FOUND,NOT_FOUND 2 216287097 rs13394972 A G 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1394-131T>C;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.1394-131T>C;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:13:0:0:0:3,10:75,347:0.00,36.47:0.00,0.00:0.00,36.47:0.00,1.00:0.00,0.00:0.00,1.00:60,60:71.3,68.3:0,0:0,0:37,126:114,25:10,18:-,NM_212482.1(FN1) c.1394-131T>C:-,0.18:-,NOT_FOUND 2 216287903 rs9288509 T TCA 23 rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=52;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1393+169_1393+170insTG;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.1393+169_1393+170insTG;VC=Intron;DM=FN1/fn3;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:T,TCA,D:25:25:8:3:14,8,3:438,254,95:0.00,22.92,7.40:0.00,19.86,7.45:0.00,3.06,-0.06:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.79,0.00:60,60,60:21.5,12.4,0.0:0,0,0:0,0,0:59,49,35:91,85,116:44,33,6:-,NM_212482.1(FN1) c.1393+169_1393+170insTG:-,NOT_FOUND:-,NOT_FOUND 2 216288250 . C . . NT END=216288867;NT GT ./. 2 216288795 rs11693652 G A 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.006;Gene=FN1/NM_001306129.1/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.1216+74C>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.1216+74C>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:26:0:0:10,18:326,588:29.45,0.00:22.05,0.00:7.40,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:36.2,5.8:0,0:0,0:38,21:111,129:26,6:NM_212482.1(FN1) c.1216+74C>T,-:0.18,-:NOT_FOUND,- 2 216289049 . C . . NT END=216289815;NT GT ./. 2 216290009 . C . . NT END=216292901;NT GT ./. 2 216290147 rs2577289 T A 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.845-139A>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.845-139A>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:33:1:0:0:19,1,1,12:491,9,10,381:49.05,0.04,0.09,0.00:3.14,0.00,0.00,0.00:45.91,0.04,0.09,0.00:1.00,0.00,0.00,0.00:0.72,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:45.5,194.0,188.0,15.2:0,0,0,0:0,0,0,0:51,22,70,75:100,114,81,75:43,0,0,28:NM_212482.1(FN1) c.845-139A>T,-:0.47,-:NOT_FOUND,- 2 216293062 . C . . NT END=216295436;NT GT ./. 2 216295191 rs7574485 T G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FN1/NM_001306129.1/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.685+247A>C;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.685+247A>C;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:G,T:7:7:0:0:5,2:163,66:16.87,0.00:16.87,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:80.2,14.0:0,0:0,0:69,53:82,97:5,31:NM_212482.1(FN1) c.685+247A>C,-:NOT_FOUND,-:NOT_FOUND,- 2 216295192 rs7560554 G T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=35;Gene=FN1/NM_001306129.1/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.685+246C>A;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.685+246C>A;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:G,T:7:7:0:0:2,5:65,147:0.00,15.26:0.00,15.26:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:14.0,80.2:0,0:0,0:54,70:96,81:31,5:-,NM_212482.1(FN1) c.685+246C>A:-,NOT_FOUND:-,NOT_FOUND 2 216295281 rs7560662 G A 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.685+157C>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.685+157C>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:8,9:244,254:23.10,0.00:23.10,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:102.4,32.1:0,0:0,0:40,50:110,101:29,25:NM_212482.1(FN1) c.685+157C>T,-:0.17,-:NOT_FOUND,- 2 216295312 rs1250241 T A 100 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.007;Gene=FN1/NM_001306129.1/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.685+126A>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.685+126A>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A:28:28:0:0:28:869:100.15:92.29:7.85:1.00:1.00:1.00:60:72.2:0:0:42:107:31:NM_212482.1(FN1) c.685+126A>T,NM_212482.1(FN1) c.685+126A>T:0.85,0.85:NOT_FOUND,NOT_FOUND 2 216295337 rs7586990 A G 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.685+101T>C;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.685+101T>C;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:39:0:0:17,22:526,680:0.00,66.87:0.00,59.64:0.00,7.23:0.00,1.00:0.00,1.00:0.00,0.98:60,60:33.6,64.6:0,0:0,0:51,32:99,119:37,11:-,NM_212482.1(FN1) c.685+101T>C:-,0.17:-,NOT_FOUND 2 216295576 . C . . NT END=216296554;NT GT ./. 2 216296688 . C . . NT END=216298045;NT GT ./. 2 216296730 rs113868976 A AT 62 idl,rn VT=INS;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=1;NP=418;Gene=FN1/NM_001306129.1/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.416-44dupA;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.416-44dupA;VC=Intron;DM=FN1/fn3;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:54:26:23:1:32,21,1:1015,716,34:0.00,61.86,1.88:0.00,23.32,0.98:0.00,38.54,0.90:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.7,13.6,0.0:0,3,0:0,0,0:103,101,132:39,45,19:32,18,0:-,NM_212482.1(FN1) c.416-44_416-43insA:-,NOT_FOUND:-,NOT_FOUND 2 216296860 rs7567647 G A 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.697;Gene=FN1/NM_001306129.1/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.416-173C>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.416-173C>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:9,6:289,205:28.81,0.00:0.00,0.00:28.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.3,4.7:0,0:0,0:120,118:30,31:25,14:NM_212482.1(FN1) c.416-173C>T,-:0.17,-:NOT_FOUND,- 2 216297796 rs1250244 G C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.415+251C>G;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.415+251C>G;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:237:27.04:27.04:0.00:1.00:1.00:0.00:60:48.3:0:0:75:75:16:NM_212482.1(FN1) c.415+251C>G,NM_212482.1(FN1) c.415+251C>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 216297875 rs10202483 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.415+172C>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.415+172C>T;VC=Intron;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:A,G:15:15:0:0:5,10:174,272:15.66,0.00:15.66,0.00:0.00,0.00:0.89,0.00:0.89,0.00:0.00,0.00:60,60:41.6,8.8:0,0:0,0:67,22:84,128:28,20:NM_212482.1(FN1) c.415+172C>T,-:0.17,-:NOT_FOUND,- 2 216298084 rs2289202 G A 107 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.038;Gene=FN1/NM_001306129.1/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_001306130.1/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_001306131.1/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_001306132.1/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_002026.2/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_212474.1/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_212476.1/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_212478.1/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_212482.1/1;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;Gene=FN1/NM_054034.2/0;CC=c.378C>T;ProtCh=p.I126=;VC=Silent;DM=FN1/fn3;DM=FN1/fn1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:68:0:0:36,52:1153,1562:106.61,0.00:60.19,0.00:46.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,10.8:0,0:0,0:81,66:52,82:42,30:NM_212482.1(FN1) c.378C>T (p.(=)),-:0.17,-:0.242734,- 2 216298185 . C . . NT END=216299417;NT GT ./. 2 216298230 rs10202709 C T 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.278-46G>A;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.278-46G>A;VC=Intron;DM=FN1/fn3;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:54:21:0:0:28,1,25:916,10,779:0.00,-0.06,73.91:0.00,0.15,27.79:0.00,-0.20,46.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.7,24.0,41.2:0,0,0:0,0,0:95,122,101:56,27,34:29,0,26:-,NM_212482.1(FN1) c.278-46G>A:-,0.17:-,0.239655 2 216299131 rs76598360 A AT 20 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=38;Gene=FN1/NM_001306129.1/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.277+287dupA;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.277+287dupA;VC=Intron;DM=FN1/fn3;DM=FN1/fn3;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,AT:7:7:6:0:1,6:34,182:0.00,19.81:0.00,19.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:60.0,10.2:0,0:0,0:92,25:54,125:0,16:-,NM_212482.1(FN1) c.277+287_277+288insA:-,0.64:-,NOT_FOUND 2 216299281 rs1250246 A C 95 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.277+138T>G;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.277+138T>G;VC=Intron;DM=FN1/fn3;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:C:26:26:0:0:26:825:94.85:94.85:0.00:1.00:1.00:0.00:60:45.7:0:0:52:98:23:NM_212482.1(FN1) c.277+138T>G,NM_212482.1(FN1) c.277+138T>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 216299548 . C . . NT END=216300376;NT GT ./. 2 216299550 rs2577290 G A 82 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.757;Gene=FN1/NM_001306129.1/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.149-3C>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.149-3C>T;VC=Intron;DM=FN1/fn3;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:28:0:0:28,33:865,1091:81.53,0.00:18.65,0.00:62.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:81.1,12.8:0,0:0,0:93,113:58,38:27,29:NM_212482.1(FN1) c.149-3C>T,-:0.4,-:0.144549,- 2 216299551 rs2692234 C A 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.087;Gene=FN1/NM_001306129.1/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.149-4G>T;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.149-4G>T;VC=Intron;DM=FN1/fn3;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:28:0:0:28,33:869,1114:81.98,0.00:19.41,0.00:62.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:79.9,11.8:0,0:0,0:100,114:50,37:26,28:NM_212482.1(FN1) c.149-4G>T,-:0.4,-:0.131401,- 2 216299571 rs397752826 T TTAC 143 nt VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1497;PC=0.006;Gene=FN1/NM_001306129.1/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.149-27_149-25dupGTA;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.149-27_149-25dupGTA;VC=Intron;DM=FN1/fn3;DM=FN1/fn3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:T,TTAC:53:21:44:0:9,44:246,1321:0.00,142.69:0.00,35.65:0.00,107.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,55.2:1,0:0,0:142,84:4,62:5,33:-,NM_212482.1(FN1) c.149-25_149-24insGTA:-,0.64:-,0.492013 2 216299629 rs1250247 C G 95 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.149-82G>C;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.149-82G>C;VC=Intron;DM=FN1/fn3;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:2:0:0:27:822:95.03:5.77:89.26:1.00:1.00:1.00:60:63.1:0:0:104:46:18:NM_212482.1(FN1) c.149-82G>C,NM_212482.1(FN1) c.149-82G>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 216300185 rs1250258 C T 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=FN1/NM_001306129.1/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_001306130.1/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_001306131.1/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_001306132.1/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_002026.2/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_212474.1/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_212476.1/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_212478.1/0;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_212482.1/1;CC=c.148+193G>A;VC=Intron;Gene=FN1/NM_054034.2/0;CC=c.148+193G>A;VC=Intron;DM=FN1/fn3;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:429:49.51:49.51:0.00:1.00:1.00:0.00:60:50.6:0:0:52:98:31:NM_212482.1(FN1) c.148+193G>A,NM_212482.1(FN1) c.148+193G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 216300482 rs1250259 T A 591 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=NA;PC=1.000;Gene=FN1/NM_001306129.1/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_001306130.1/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_001306131.1/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_001306132.1/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_002026.2/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_212474.1/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_212476.1/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_212478.1/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_212482.1/1;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;Gene=FN1/NM_054034.2/0;CC=c.44A>T;ProtCh=p.Q15L;VC=Missense;DM=FN1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:155:107:0:0:154,1:5184,5:591.31,0.01:299.41,0.01:291.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,5.0:0,0:0,0:56,65:87,86:31,0:NM_212482.1(FN1) c.44A>T (p.Gln15Leu),NM_212482.1(FN1) c.44A>T (p.Gln15Leu):0.86,0.86:0.788527,0.788527 2 216300625 . C . . NT END=216809585;NT GT ./. 2 216300795 rs7562601 C G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.192 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:C,G:16:0:0:0:7,9:166,292:0.00,28.75:0.00,0.00:0.00,28.75:0.00,1.00:0.00,0.00:0.00,1.00:60,60:38.3,33.8:0,0:0,0:112,115:39,35:31,19:-,NM_212482.1(FN1) c.-266-u4G>C:-,0.35:-,NOT_FOUND 2 216463629 rs71047913 A C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:140:15.91:7.85:8.05:1.00:1.00:1.00:60:35.0:0:0:84:54:29:chr2 g.216463628A>C (intergenic),chr2 g.216463628A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216514569 . ATG A 11 rn VT=DEL;SST=Single;DP=8;NP=32;PC=0.023;Gene=LINC00607/NR_037195.1/0;VC=NonCoding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:ATG,A:8:5:0:4:4,4:123,113:0.00,10.80:0.00,5.85:0.00,4.95:0.00,0.87:0.00,0.96:0.00,0.96:60,60:36.2,58.2:0,0:0,0:52,32:98,100:39,2:-,NR_037195.1(LINC00607) n.724-25613_724-25612delCA:-,NOT_FOUND:-,NOT_FOUND 2 216514605 rs75730592 G A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=300;NP=5;NP=7;NP=87;PC=0.002;Gene=LINC00607/NR_037195.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:0:6:199:22.76:11.28:11.48:1.00:1.00:1.00:60:42.0:0:0:66:66:8:NR_037195.1(LINC00607) n.724-25647C>T,NR_037195.1(LINC00607) n.724-25647C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216529126 rs5838534 A G,ATGTG 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;NP=336;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:17:G,ATGTG:4:3:3:0:1,3:22,88:2.08,9.85:2.08,6.20:0.00,3.65:0.00,0.85:0.00,0.99:0.00,0.83:60,60:22.0,18.7:0,0:0,0:126,33:23,117:0,24:NR_037195.1(LINC00607) n.724-40168T>C,NR_037195.1(LINC00607) n.724-40169_724-40168insCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216542562 rs140651520 ATG A 13 end,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=578;Gene=LINC00607/NR_037195.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:4:4:107:12.60:7.79:4.81:1.00:1.00:1.00:60:74.2:0:0:4:122:0:NR_037195.1(LINC00607) n.724-53606_724-53605delCA,NR_037195.1(LINC00607) n.724-53606_724-53605delCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216542608 rs76601487 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=111;PC=0.002;Gene=LINC00607/NR_037195.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G:4:3:0:0:3,1:89,10:9.40,0.00:3.87,0.00:5.53,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,60:39.7,189.0:2,0:0,0:48,48:56,102:5,0:NR_037195.1(LINC00607) n.724-53650C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 216542610 rs377003686 GTA A,G 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=193 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,GTA,G:5:4:0:3:1,1,3:27,26,95:2.38,0.00,9.87:2.38,0.00,2.96:0.00,0.00,6.91:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.94:60,60,60:189.0,22.0,35.7:0,1,0:0,0,0:50,45,51:100,105,54:0,0,1:NR_037195.1(LINC00607) n.724-53653_724-53652delAC,NR_037195.1(LINC00607) n.724-53654_724-53653delTA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216553416 rs62180936 A AGTGT 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=17;NP=209;NP=22;NP=5;PC=0.002;Gene=LINC00607/NR_037195.1/0;VC=NonCoding;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,AGTGT:4:4:4:0:1,3:32,99:0.00,8.76:0.00,3.88:0.00,4.88:0.00,0.78:0.00,0.97:0.00,0.87:60,70:11.0,18.0:0,1:0,0:26,86:124,52:0,31:-,NR_037195.1(LINC00607) n.723+52183_723+52184insACAC:-,NOT_FOUND:-,NOT_FOUND 2 216581035 rs10189368 T C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003;Gene=LINC00607/NR_037195.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:177:20.08:8.10:11.98:1.00:1.00:1.00:60:42.2:0:0:64:80:18:NR_037195.1(LINC00607) n.723+24565A>G,NR_037195.1(LINC00607) n.723+24565A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216650459 rs71401115 G C,GAC 11 idl;end,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=99;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:25:C,GAC:4:4:4:0:1,3:31,129:2.88,10.86:2.88,8.84:0.00,2.03:0.00,0.78:0.00,0.97:0.00,0.87:60,60:31.0,11.7:0,1:0,0:144,64:7,80:0,6:NR_037195.1(LINC00607) n.212-35319C>G,NR_037195.1(LINC00607) n.212-35320_212-35319insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 216809721 . C . . NT END=216810293;NT GT ./. 2 216810458 . C . . NT END=216811745;NT GT ./. 2 216810468 rs62183184 A C 111 nt VT=SNV;PN=A;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MREG/NM_018000.2/1;CC=c.347-11T>G;VC=Intron;DM=MREG/MREG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:27:0:0:29,34:901,1133:0.00,110.61:0.00,39.89:0.00,70.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,39.8:0,0:0,0:94,86:55,60:42,23:-,NM_018000.2(MREG) c.347-11T>G:-,0.27:-,0.320201 2 216811707 rs1344695 G T 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MREG/NM_018000.2/1;CC=c.346+39C>A;VC=Intron;DM=MREG/MREG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:G,T:21:19:0:0:7,14:193,460:0.00,46.90:0.00,40.11:0.00,6.79:0.00,1.00:0.00,1.00:0.00,0.99:60,60:15.1,38.6:0,0:0,0:35,48:116,102:26,24:-,NM_018000.2(MREG) c.346+39C>A:-,0.46:-,0.548142 2 216811837 . C . . NT END=216861028;NT GT ./. 2 216861189 . C . . NT END=216877955;NT GT ./. 2 216861273 rs2303845 T C 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MREG/NM_018000.2/1;CC=c.96-85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:16:2:0:0:10,6:316,174:31.79,0.00:3.25,0.00:28.54,0.00:1.00,0.00:0.88,0.00:1.00,0.00:60,60:36.7,6.3:0,0:0,0:76,104:75,47:34,32:NM_018000.2(MREG) c.96-85A>G,-:0.5,-:NOT_FOUND,- 2 216878051 . G . . NT END=216903997;NT GT ./. 2 216904084 . C . . NT END=216908626;NT GT ./. 2 216908739 . C . . NT END=216913985;NT GT ./. 2 216914097 . C . . NT END=216916171;NT GT ./. 2 216916269 . C . . NT END=216923617;NT GT ./. 2 216923700 . C . . NT END=216930034;NT GT ./. 2 216930201 . C . . NT END=216931107;NT GT ./. 2 216931242 . C . . NT END=216946340;NT GT ./. 2 216946465 . C . . NT END=216960686;NT GT ./. 2 216960958 . G . . NT END=216964642;NT GT ./. 2 216961195 rs7576830 T C 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.006;Gene=TMEM169/NM_001142310.1/1;CC=c.271+238T>C;VC=Intron;Gene=TMEM169/NM_001142311.1/0;CC=c.271+238T>C;VC=Intron;Gene=TMEM169/NM_001142312.1/0;CC=c.271+238T>C;VC=Intron;Gene=TMEM169/NM_138390.3/0;CC=c.271+238T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:348:39.57:0.00:39.57:1.00:0.00:1.00:60:39.0:0:0:91:56:18:NM_001142310.1(TMEM169) c.271+238T>C,NM_001142310.1(TMEM169) c.271+238T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 2 216965266 . A . . NT END=216973874;NT GT ./. 2 216973814 rs11685387 C T 481 nt VT=SNV;PN=G;NN=G;SST=Single;DP=326;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:326:309:0:0:157,1,168:5239,9,4990:0.00,-0.18,481.10:0.00,-0.15,407.09:0.00,-0.03,74.01:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.4,52.0,40.4:0,0,0:0,0,0:39,58,42:110,93,105:27,0,29:-,NM_021141.3(XRCC5) c.-140-u206C>T:-,0.42:-,NOT_FOUND 2 216974181 . G . . NT END=216977738;NT GT ./. 2 216977853 . G . . NT END=216981381;NT GT ./. 2 216981566 . G . . NT END=216982468;NT GT ./. 2 216981622 rs187841716 A T 95 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=43;PC=0.002;Gene=XRCC5/NM_021141.3/1;CC=c.319+57A>T;VC=Intron;DM=XRCC5/Ku_N;DM=XRCC5/Ku_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:38:9:0:0:10,28:290,913:0.00,95.17:0.00,17.96:0.00,77.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,39.6:0,0:0,0:77,94:74,56:33,32:-,NM_021141.3(XRCC5) c.319+57A>T:-,0.0037:-,NOT_FOUND 2 216982370 rs3815855 C G 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=XRCC5/NM_021141.3/1;CC=c.320-99C>G;VC=Intron;DM=XRCC5/Ku_N;DM=XRCC5/Ku_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:15:0:0:9,7:300,203:0.00,18.87:0.00,14.57:0.00,4.30:0.00,0.98:0.00,1.00:0.00,0.84:60,60:15.0,53.4:0,0:0,0:33,24:118,126:32,6:-,NM_021141.3(XRCC5) c.320-99C>G:-,0.19:-,NOT_FOUND 2 216982518 . G . . NT END=216983765;NT GT ./. 2 216983889 . G . . NT END=216986784;NT GT ./. 2 216986977 . G . . NT END=216990639;NT GT ./. 2 216990755 . G . . NT END=216992258;NT GT ./. 2 216992093 rs4503989 T C 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.011;Gene=XRCC5/NM_021141.3/1;CC=c.799-166T>C;VC=Intron;DM=XRCC5/Ku GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:C,T:15:15:0:0:10,5:335,161:34.12,0.00:34.12,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.0,3.8:0,0:0,0:79,103:71,47:37,11:NM_021141.3(XRCC5) c.799-166T>C,-:0.41,-:NOT_FOUND,- 2 216992398 . G . . NT END=216995597;NT GT ./. 2 216995711 . G . . NT END=216995882;NT GT ./. 2 216995910 . G . . NT END=216997047;NT GT ./. 2 216997111 . G . . NT END=217001810;NT GT ./. 2 217001547 rs10804247 C T 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.026;Gene=XRCC5/NM_021141.3/1;CC=c.1114-264C>T;VC=Intron;DM=XRCC5/Ku GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:9:9:0:0:5,4:165,117:0.00,10.92:0.00,10.92:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,56.5:0,0:0,0:83,15:67,121:23,2:-,NM_021141.3(XRCC5) c.1114-264C>T:-,0.4:-,NOT_FOUND 2 217001949 . G . . NT END=217002811;NT GT ./. 2 217002903 . G . . NT END=217005908;NT GT ./. 2 217003152 rs2303400 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.080;Gene=XRCC5/NM_021141.3/1;CC=c.1342+250T>C;VC=Intron;DM=XRCC5/Ku GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,T:6:0:0:0:4,2:126,62:12.85,0.00:0.00,0.00:12.85,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:48.0,0.0:0,0:0,0:79,34:64,116:13,32:NM_021141.3(XRCC5) c.1342+250T>C,-:0.47,-:NOT_FOUND,- 2 217005903 rs190526539 T G 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=12;PC=0.028;Gene=XRCC5/NM_021141.3/1;CC=c.1343-6T>G;VC=Intron;DM=XRCC5/Ku GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:54:45:0:0:22,32:641,1021:58.69,0.00:47.20,0.00:11.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,4.0:0,0:0,0:53,50:89,94:25,25:NM_021141.3(XRCC5) c.1343-6T>G,-:0.0009,-:0.001461,- 2 217006043 . G . . NT END=217012805;NT GT ./. 2 217012901 rs207906 A G 236 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=NA;PC=0.021;Gene=XRCC5/NM_021141.3/1;CC=c.1572A>G;ProtCh=p.T524=;VC=Silent;DM=XRCC5/Ku_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:G:65:46:0:0:65:2050:235.77:117.89:117.88:1.00:1.00:1.00:60:36.7:0:0:57:91:32:NM_021141.3(XRCC5) c.1572A>G (p.(=)),NM_021141.3(XRCC5) c.1572A>G (p.(=)):0.89,0.89:0.873212,0.873212 2 217013000 . G . . NT END=217024790;NT GT ./. 2 217024885 . G . . NT END=217026701;NT GT ./. 2 217026772 . G . . NT END=217054947;NT GT ./. 2 217055058 . G . . NT END=217057361;NT GT ./. 2 217055171 rs12470053 A G 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=XRCC5/NM_021141.3/1;CC=c.1944+114A>G;VC=Intron;DM=XRCC5/Ku_PK_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:273:31.12:0.00:31.12:1.00:0.00:1.00:60:35.6:0:0:114:37:22:NM_021141.3(XRCC5) c.1944+114A>G,NM_021141.3(XRCC5) c.1944+114A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 2 217057459 . G . . NT END=217059641;NT GT ./. 2 217059428 rs3732023 G A 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.002;Gene=XRCC5/NM_021141.3/1;CC=c.2042-214G>A;VC=Intron;DM=XRCC5/Ku_PK_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:8:0:0:8:248:28.57:28.57:0.00:1.00:1.00:0.00:60:44.6:0:0:70:80:28:NM_021141.3(XRCC5) c.2042-214G>A,NM_021141.3(XRCC5) c.2042-214G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 2 217059710 . G . . NT END=217069044;NT GT ./. 2 217059964 rs4674066 C T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=XRCC5/NM_021141.3/1;CC=c.2109+255C>T;VC=Intron;DM=XRCC5/Ku_PK_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:34.0:0:0:121:29:10:NM_021141.3(XRCC5) c.2109+255C>T,NM_021141.3(XRCC5) c.2109+255C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 2 217069120 . G . . NT END=217069910;NT GT ./. 2 217069151 rs1438162 A G 144 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=XRCC5/NM_021141.3/1;CC=c.2184+32A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A,G:39:24:0:0:1,38:8,1277:0.00,144.28:0.00,55.74:0.00,88.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:107.0,39.7:0,0:0,0:98,96:45,54:0,17:NM_021141.3(XRCC5) c.2184+32A>G,NM_021141.3(XRCC5) c.2184+32A>G:0.47,0.47:0.321698,0.321698 2 217069926 . G . . NT END=217124034;NT GT ./. 2 217070057 rs4987039 G A 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.001;Gene=XRCC5/NM_021141.3/1;CC=c.*132G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:A,G:19:0:0:0:14,5:480,134:49.94,0.00:0.00,0.00:49.94,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.6,19.2:0,0:0,0:112,88:36,63:17,15:NM_021141.3(XRCC5) c.*132G>A,-:0.03,-:NOT_FOUND,- 2 217105707 rs7597209 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:135:15.41:9.69:5.72:1.00:1.00:1.00:60:36.8:0:0:112:23:9:chr2 g.217105706C>T (intergenic),chr2 g.217105706C>T (intergenic):0.44,0.44:NOT_FOUND,NOT_FOUND 2 217123958 rs169616 T C 329 nt VT=SNV;PN=C;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;Gene=MARCH4/NM_020814.2/1;CC=c.*77A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:94:85:0:0:92,2:2865,11:329.45,0.11:242.10,0.11:87.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,79.5:0,0:0,0:43,71:102,62:32,44:NM_020814.2(MARCH4) c.*77A>G,NM_020814.2(MARCH4) c.*77A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 217124403 . C . . NT END=217142394;NT GT ./. 2 217142588 . C . . NT END=217148296;NT GT ./. 2 217148417 rs876771 C A 477 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;Gene=MARCH4/NM_020814.2/1;CC=c.552G>T;ProtCh=p.S184=;VC=Silent;DM=MARCH4/RINGv GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:122:66:0:0:122:4191:477.26:172.49:304.78:1.00:1.00:1.00:60:40.2:0:0:86:60:34:NM_020814.2(MARCH4) c.552G>T (p.(=)),NM_020814.2(MARCH4) c.552G>T (p.(=)):0.43,0.43:0.43034,0.43034 2 217148453 . C . . NT END=217234467;NT GT ./. 2 217148546 rs2249264 A G 139 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.003;Gene=MARCH4/NM_020814.2/1;CC=c.517-94T>C;VC=Intron;DM=MARCH4/RINGv GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:G:40:11:0:0:40:1196:138.64:26.62:112.01:1.00:1.00:1.00:60:51.1:0:0:113:38:23:NM_020814.2(MARCH4) c.517-94T>C,NM_020814.2(MARCH4) c.517-94T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 2 217148710 rs759757 A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=MARCH4/NM_020814.2/1;CC=c.517-258T>C;VC=Intron;DM=MARCH4/RINGv GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:0:0:0:4:107:12.56:0.00:12.56:1.00:0.00:1.00:60:48.0:0:0:97:49:33:NM_020814.2(MARCH4) c.517-258T>C,NM_020814.2(MARCH4) c.517-258T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 2 217234984 . G . . NT END=217279427;NT GT ./. 2 217280239 . G . . NT END=217280979;NT GT ./. 2 217280261 . G GT 17 idl,rn VT=INS;SST=Single;DP=69;Gene=SMARCAL1/NM_014140.3/1;CC=c.811+38dupT;VC=Intron;Gene=SMARCAL1/NM_001127207.1/0;CC=c.811+38dupT;VC=Intron;DM=SMARCAL1/HARP;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:A,G,T,GT,D:63:28:10:5:1,50,3,7,2:8,1570,37,308,144:-0.22,0.00,0.59,16.67,3.85:-0.09,0.00,0.00,-0.45,-1.35:-0.14,0.00,0.59,17.12,5.20:0.00,0.00,0.00,0.89,0.00:0.00,0.00,0.00,0.87,0.00:0.00,0.00,0.00,0.99,0.00:60,60,60,70,60:56.0,10.4,88.3,29.6,29.5:0,0,0,3,3:0,0,0,0,0:59,123,98,78,81:82,20,53,73,69:0,19,14,26,13:-,NM_014140.3(SMARCAL1) c.811+23_811+24insT:-,NOT_FOUND:-,NOT_FOUND 2 217281031 . G . . NT END=217285021;NT GT ./. 2 217285256 . G . . NT END=217288355;NT GT ./. 2 217288407 . G . . NT END=217293318;NT GT ./. 2 217293506 . G . . NT END=217297440;NT GT ./. 2 217297592 . G . . NT END=217300060;NT GT ./. 2 217300220 . G . . NT END=217303142;NT GT ./. 2 217303209 . G . . NT END=217311740;NT GT ./. 2 217311882 . G . . NT END=217315568;NT GT ./. 2 217315788 . G . . NT END=217329319;NT GT ./. 2 217329391 . G . . NT END=217332666;NT GT ./. 2 217329432 rs75937485 C CA 10 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=SMARCAL1/NM_014140.3/1;CC=c.2141+56dupA;VC=Intron;Gene=SMARCAL1/NM_001127207.1/0;CC=c.2141+56dupA;VC=Intron;DM=SMARCAL1/Helicase_C;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,C,CA,D:30:10:5:4:2,19,5,4:44,595,131,120:2.53,0.00,10.10,9.23:-0.23,0.00,-0.60,0.99:2.75,0.00,10.69,8.25:0.00,0.00,0.80,0.00:0.00,0.00,0.78,0.00:0.00,0.00,0.96,0.00:60,60,70,60:121.0,11.4,86.8,4.8:1,0,0,0:0,0,0,0:63,112,116,114:83,39,35,37:62,23,9,8:-,NM_014140.3(SMARCAL1) c.2141+42_2141+43insA:-,NOT_FOUND:-,NOT_FOUND 2 217332770 . G . . NT END=217339991;NT GT ./. 2 217340175 . G . . NT END=217341831;NT GT ./. 2 217341933 . G . . NT END=217342925;NT GT ./. 2 217343023 . G . . NT END=217347460;NT GT ./. 2 217347193 rs116315714 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SMARCAL1/NM_014140.3/1;CC=c.2626-268G>A;VC=Intron;Gene=SMARCAL1/NM_001127207.1/0;CC=c.2626-268G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:A,G:10:10:0:0:5,5:171,138:16.48,0.00:16.48,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.2,4.6:0,0:0,0:66,21:84,130:21,13:NM_014140.3(SMARCAL1) c.2626-268G>A,-:0.02,-:NOT_FOUND,- 2 217347701 . A . . NT END=217363597;NT GT ./. 2 217363601 . G . . NT END=217363992;NT GT ./. 2 217364122 . G . . NT END=217364671;NT GT ./. 2 217364452 rs284573 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=RPL37A/NM_000998.4/1;CC=c.133-220C>G;VC=Intron;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:139:16.26:12.99:3.28:1.00:1.00:1.00:60:61.8:0:0:31:120:27:NM_000998.4(RPL37A) c.133-220C>G,NM_000998.4(RPL37A) c.133-220C>G:0.24,0.24:NOT_FOUND,NOT_FOUND 2 217364539 rs284572 C T 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=RPL37A/NM_000998.4/1;CC=c.133-133C>T;VC=Intron;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae;DM=RPL37A/Ribosomal_L37ae GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:17:0:0:18:504:58.82:54.94:3.88:1.00:1.00:1.00:60:52.3:0:0:60:89:25:NM_000998.4(RPL37A) c.133-133C>T,NM_000998.4(RPL37A) c.133-133C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 2 217364755 . G . . NT END=217366063;NT GT ./. 2 217366128 . A . . NT END=217498246;NT GT ./. 2 217440729 rs72541715 TCACACACACA T 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=7;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:3:3:0:4:3:118:10.15:4.88:5.28:0.85:0.99:0.85:60:19.0:1:0:74:65:16:chr2 g.217440730_217440739delCACACACACA (intergenic),chr2 g.217440730_217440739delCACACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 217474993 . CTT C,CTTT 7 idl,nt VT=DEL;SST=Single;DP=4;NP=1;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:29:CTTT,C:3:4:1:3:1,2:33,100:3.18,7.05:3.18,7.05:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:134.0,72.0:0,1:0,0:59,44:91,107:0,11:chr2 g.217474994_217474995delTT (intergenic),chr2 g.217474995dupT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 217475031 rs71401156 CA C,CAAAA 10 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=65;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:44:T,CAAAA,C:6:6:3:3:1,3,2:22,95,63:1.90,10.03,6.30:1.90,8.34,4.80:0.00,1.69,1.50:0.00,0.73,0.00:0.00,0.73,0.00:0.00,0.79,0.00:60,60,60:134.0,10.3,0.0:1,0,0:0,0,0:97,22,15:53,97,136:0,14,1:chr2 g.217475032delA (intergenic),chr2 g.217475032A[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 217498290 rs571770573 C CGCCGCTGCT 327 PASS VT=INS;SST=Single;DP=113;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.541;Gene=IGFBP2/NM_001313992/0;CC=c.-57+312_-57+313insCGCTGCTGC;VC=Intron;Gene=IGFBP2/NM_001313993/0;CC=c.-57+573_-57+574insCGCTGCTGC;VC=Intron;Gene=IGFBP2/NM_000597.2/1;CC=c.64_65insCGCTGCTGC;ProtCh=p.L21_L22insPLL;VC=InFrameIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:C,CGCCGCTGCT:112:105:99:0:14,98:406,3012:0.00,326.57:0.00,237.68:0.00,88.89:0.00,1.00:0.00,1.00:0.00,1.00:60,70:53.5,10.0:3,1:0,0:98,42:49,103:24,27:-,NM_000597.2(IGFBP2) c.53_54insCGCCGC (p.Leu18_Pro19insAlaAla):-,NOT_FOUND:-,0.787879 2 217498698 . T . . NT END=217524445;NT GT ./. 2 217524470 . G . . NT END=217525279;NT GT ./. 2 217524730 rs76899628 C G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=7;Gene=IGFBP2/NM_001313992/0;CC=c.-56-550C>G;VC=Intron;Gene=IGFBP2/NM_001313993/0;CC=c.-56-550C>G;VC=Intron;Gene=IGFBP2/NM_000597.2/1;CC=c.443-550C>G;VC=Intron;Gene=IGFBP2/NM_001313990/0;CC=c.10+261C>G;VC=Intron;DM=IGFBP2/Thyroglobulin_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,G:7:0:0:0:2,5:71,136:0.00,14.11:0.00,0.00:0.00,14.11:0.00,0.98:0.00,0.00:0.00,0.98:60,60:4.0,76.8:0,0:0,0:96,69:55,82:15,65:-,NM_000597.2(IGFBP2) c.452-550C>G:-,0.0014:-,NOT_FOUND 2 217525510 . G . . NT END=217526580;NT GT ./. 2 217526722 . G . . NT END=217528662;NT GT ./. 2 217528393 rs146008759 G A 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;Gene=IGFBP2/NM_001313992/0;CC=c.316-270G>A;VC=Intron;Gene=IGFBP2/NM_001313993/0;CC=c.316-270G>A;VC=Intron;Gene=IGFBP2/NM_000597.2/1;CC=c.814-270G>A;VC=Intron;Gene=IGFBP2/NM_001313990/0;CC=c.382-270G>A;VC=Intron;DM=IGFBP2/Thyroglobulin_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,G:5:5:0:0:3,2:98,54:9.77,0.00:9.77,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:32.7,0.0:0,0:0,0:34,83:117,67:20,4:NM_000597.2(IGFBP2) c.823-270G>A,-:0.0009,-:NOT_FOUND,- 2 217528828 . A . . NT END=217541473;NT GT ./. 2 217541582 rs2160549 T C 386 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.997;Gene=IGFBP5/NM_000599.3/1;CC=c.711A>G;ProtCh=p.K237=;VC=Silent;DM=IGFBP5/Thyroglobulin_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:101:69:0:0:101:3379:385.88:194.77:191.11:1.00:1.00:1.00:60:38.9:0:0:74:75:33:NM_000599.3(IGFBP5) c.=,NM_000599.3(IGFBP5) c.=:0.98,0.98:0.977856,0.977856 2 217541606 . C . . NT END=217542834;NT GT ./. 2 217542955 . C . . NT END=217543572;NT GT ./. 2 217543803 . C . . NT END=217559161;NT GT ./. 2 217557085 rs71401161 C CGTGT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=2;Gene=IGFBP5/NM_000599.3/1;CC=c.337+2076_337+2077insACAC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:C,CGTGT,D:5:5:3:1:1,3,1:34,96,33:0.00,9.97,2.98:0.00,8.19,1.44:0.00,1.78,1.54:0.00,0.78,0.00:0.00,0.78,0.00:0.00,0.87,0.00:60,60,60:48.0,44.7,0.0:0,0,0:0,0,0:39,28,53:88,122,81:0,5,0:-,NM_000599.3(IGFBP5) c.337+2076_337+2077insACAC:-,NOT_FOUND:-,NOT_FOUND 2 217559499 . C . . NT END=217724389;NT GT ./. 2 217724419 . C . . NT END=217724618;NT GT ./. 2 217724544 rs62180545 A G 130 nt VT=SNV;PN=G;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=TNP1/NM_003284.3/1;CC=c.139+75T>C;VC=Intron;DM=TNP1/TP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:78:55:0:0:34,1,42,1:1114,13,1327,11:0.00,0.04,129.99,-0.04:0.00,0.15,79.89,-0.09:0.00,-0.11,50.11,0.05:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:8.0,25.0,37.4,76.0:0,0,0,0:0,0,0,0:60,37,49,74:88,114,99,76:29,0,26,0:-,NM_003284.3(TNP1) c.139+75T>C:-,0.1:-,NOT_FOUND 2 217724758 . G . . NT END=218669181;NT GT ./. 2 217725044 rs1179735 T C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:7:0:0:0:4,3:92,76:9.02,0.00:0.00,0.00:9.02,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:46.8,23.0:0,0:0,0:109,145:41,6:36,3:NM_003284.3(TNP1) c.-25-u262A>G,-:0.65,-:NOT_FOUND,- 2 217977998 rs17779951 T C 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:127:14.61:9.89:4.71:1.00:1.00:1.00:60:48.0:0:0:30:112:3:chr2 g.217977997T>C (intergenic),chr2 g.217977997T>C (intergenic):0.36,0.36:NOT_FOUND,NOT_FOUND 2 218108481 rs529767775 T TAC 21 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TAC:6:6:6:0:6:185:21.36:13.80:7.55:1.00:1.00:1.00:60:24.8:0:0:33:109:11:chr2 g.218108481_218108482insAC (intergenic),chr2 g.218108481_218108482insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218108528 rs561560067 GCACACACA G 29 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=102;PC=0.055;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:9:0:9:8:285:28.61:19.84:8.76:1.00:1.00:1.00:70:3.2:1:0:62:79:22:chr2 g.218108529_218108536delCACACACA (intergenic),chr2 g.218108529_218108536delCACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218108538 rs201863614 A G 30 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.055 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:1:8:264:30.22:18.68:11.53:1.00:1.00:1.00:70:9.5:8:0:69:65:24:chr2 g.218108537A>G (intergenic),chr2 g.218108537A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218108540 rs199821472 A G 25 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.053 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,G:8:8:0:1:1,7:35,232:0.00,25.23:0.00,15.83:0.00,9.40:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,5.3:1,7:0,0:98,44:46,76:0,14:-,chr2 g.218108539A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 218141110 rs60391218 C CACACACACACACACACACACAA 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.010;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CACACACACACACACACACACAA:3:3:4:0:3:131:10.86:5.43:5.43:0.85:0.99:0.85:70:3.0:1:0:37:93:23:chr2 g.218141110_218141111insACACACACACACACACACACAA (intergenic),chr2 g.218141110_218141111insACACACACACACACACACACAA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218322137 rs2373062 G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=262;Gene=DIRC3/NR_026597.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:C,G:5:4:0:1:3,2:94,55:9.37,0.00:4.89,0.00:4.48,0.00:0.78,0.00:0.97,0.00:0.94,0.00:60,60:80.0,5.0:0,0:0,0:23,28:126,66:17,3:NR_026597.1(DIRC3) n.1522+20967C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 218549812 rs60574815 C CGTGT 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=153;NP=31;Gene=DIRC3/NR_026597.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:C,T,CGTGT:6:6:4:0:2,1,3:69,29,121:0.00,2.40,8.94:0.00,-0.10,7.31:0.00,2.50,1.63:0.00,0.00,0.69:0.00,0.00,0.95:0.00,0.00,0.83:60,60,70:24.5,29.0,14.3:0,0,1:0,0,0:69,64,56:65,87,94:8,0,22:-,NR_026597.1(DIRC3) n.126+71378_126+71379insACAC:-,NOT_FOUND:-,NOT_FOUND 2 218550867 rs55960646 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=9;PC=0.149;Gene=DIRC3/NR_026597.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:2:4:125:14.41:7.40:7.00:1.00:1.00:1.00:60:66.2:0:0:64:56:28:NR_026597.1(DIRC3) n.126+70324G>A,NR_026597.1(DIRC3) n.126+70324G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218550871 rs28583131 T C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=22;PC=0.141;Gene=DIRC3/NR_026597.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:C,T:5:3:0:0:4,1:140,25:14.82,0.00:5.12,0.00:9.70,0.00:0.96,0.00:0.99,0.00:0.99,0.00:60,60:82.5,0.0:0,1:0,0:68,123:59,27:23,0:NR_026597.1(DIRC3) n.126+70320A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 218553678 rs112779335 C A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;Gene=DIRC3/NR_026597.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,C:5:5:0:0:3,2:95,69:9.47,0.00:9.47,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:90.0,6.0:0,2:0,0:9,68:142,81:6,16:NR_026597.1(DIRC3) n.126+67513G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 218582843 rs10932726 G A,C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:5:3:0:0:4,1:97,12:11.17,0.99:3.93,0.99:7.24,0.00:0.96,0.00:0.99,0.00:1.00,0.00:60,60:48.8,65.0:0,0:0,0:62,102:84,30:18,0:NR_026597.1(DIRC3) n.126+38348C>T,NR_026597.1(DIRC3) n.126+38348C>G:0.69,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218602307 . GCACA G 6 rn VT=DEL;SST=Single;DP=4;Gene=DIRC3/NR_026597.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:GCACA,G:4:4:0:2:2,2:63,66:0.00,6.35:0.00,3.18:0.00,3.18:0.00,0.51:0.00,0.51:0.00,0.51:60,60:32.5,10.5:0,0:0,0:52,16:80,103:41,4:-,NR_026597.1(DIRC3) n.126+18880_126+18883delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 218625581 rs1814355 T C 70 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:8:0:0:19:605:69.53:18.52:51.01:1.00:1.00:1.00:60:43.5:0:0:74:76:29:NR_026597.1(DIRC3) n.-4265A>G,NR_026597.1(DIRC3) n.-4265A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 218625787 rs7560625 A G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,G:11:11:0:0:8,3:270,80:0.00,6.63:0.00,6.63:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:2.6,83.0:0,0:0,0:47,13:104,138:10,6:-,NR_026597.1(DIRC3) n.-4471T>C:-,0.33:-,NOT_FOUND 2 218625884 rs143401260 C A 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:27:0:0:10,19:279,634:24.53,0.00:18.03,0.00:6.51,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:47.4,4.0:0,0:0,0:50,36:100,111:40,30:NR_026597.1(DIRC3) n.-4568G>T,-:0.02,-:NOT_FOUND,- 2 218668979 . TTCTC T,TTCTCTCTC 18 idl,nt VT=DEL;SST=Single;DP=8;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:61:TTCTCTCTC,T:7:8:2:7:2,5:67,183:6.45,17.66:6.45,17.66:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:45.0,56.2:0,1:0,0:49,53:101,97:30,21:NM_022648.4(TNS1) c.*171GA[14],NM_022648.4(TNS1) c.*171GA[18]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218669327 . C . . NT END=218672797;NT GT ./. 2 218672831 . C . . NT END=218673325;NT GT ./. 2 218673230 . GCA G 11 rn VT=DEL;SST=Single;DP=23;NP=804;Gene=TNS1/NM_001308022.1/0;CC=c.4988+94_4988+95delTG;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.4967+94_4967+95delTG;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.5030+94_5030+95delTG;VC=Intron;DM=TNS1/PTB;DM=TNS1/PTB;DM=TNS1/PTB;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:GCA,G:23:22:0:4:19,4:636,135:0.00,10.80:0.00,10.96:0.00,-0.17:0.00,0.69:0.00,0.96:0.00,0.48:60,60:11.7,5.2:0,0:0,0:93,44:55,106:33,30:-,NM_022648.4(TNS1) c.5030+94_5030+95delTG:-,NOT_FOUND:-,NOT_FOUND 2 218673395 . C . . NT END=218674545;NT GT ./. 2 218674715 . C . . NT END=218674970;NT GT ./. 2 218675043 . C . . NT END=218677090;NT GT ./. 2 218677169 . C . . NT END=218677937;NT GT ./. 2 218678031 . C . . NT END=218678407;NT GT ./. 2 218678540 . C . . NT END=218679634;NT GT ./. 2 218679722 . C . . NT END=218682412;NT GT ./. 2 218683483 . C . . NT END=218686462;NT GT ./. 2 218686662 . C . . NT END=218694566;NT GT ./. 2 218694296 rs6729330 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.3022+794G>A;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.2998+1882G>A;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.3061+271G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:88:10.65:10.65:0.00:1.00:1.00:0.00:60:80.8:0:0:80:70:31:NM_022648.4(TNS1) c.3061+271G>A,NM_022648.4(TNS1) c.3061+271G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 2 218694357 rs6729561 G A 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.3022+733C>T;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.2998+1821C>T;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.3061+210C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:235:26.84:26.84:0.00:1.00:1.00:0.00:60:56.7:0:0:28:120:16:NM_022648.4(TNS1) c.3061+210C>T,NM_022648.4(TNS1) c.3061+210C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 2 218694510 rs55877504 CT C 114 nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3111;Gene=TNS1/NM_001308022.1/0;CC=c.3022+579delA;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.2998+1667delA;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.3061+56delA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:26:0:33:31:988:113.58:83.28:30.30:1.00:1.00:1.00:60:1.6:0:0:59:92:27:NM_022648.4(TNS1) c.3061+56delA,NM_022648.4(TNS1) c.3061+56delA:0.74,0.74:NOT_FOUND,NOT_FOUND 2 218694512 rs55694913 T G 118 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.3022+578A>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.2998+1666A>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.3061+55A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:26:0:0:33:1027:118.38:81.65:36.72:1.00:1.00:1.00:60:5.2:2:0:50:101:22:NM_022648.4(TNS1) c.3061+55A>C,NM_022648.4(TNS1) c.3061+55A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 218694691 rs10188605 A G 227 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.003;Gene=TNS1/NM_001308022.1/0;CC=c.3022+399T>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.2998+1487T>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.3023-86T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G:58:40:0:0:58:1996:227.26:113.93:113.33:1.00:1.00:1.00:60:43.3:0:0:85:59:42:NM_022648.4(TNS1) c.3023-86T>C,NM_022648.4(TNS1) c.3023-86T>C:0.41,0.41:NOT_FOUND,NOT_FOUND 2 218694738 . C . . NT END=218695089;NT GT ./. 2 218695102 rs3796028 G A 164 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.797;Gene=TNS1/NM_001308022.1/0;CC=c.3010C>T;ProtCh=p.R1004W;VC=Missense;Gene=TNS1/NM_001308023.1/0;CC=c.2998+1076C>T;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.3010C>T;ProtCh=p.R1004W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:A:45:36:0:0:45:1431:164.46:100.60:63.86:1.00:1.00:1.00:60:44.4:0:0:69:64:31:NM_022648.4(TNS1) c.3010C>T (p.Arg1004Trp),NM_022648.4(TNS1) c.3010C>T (p.Arg1004Trp):0.39,0.39:0.332231,0.332231 2 218695114 . C . . NT END=218696177;NT GT ./. 2 218696271 . C . . NT END=218699813;NT GT ./. 2 218699890 . C . . NT END=218700737;NT GT ./. 2 218700935 . C . . NT END=218705921;NT GT ./. 2 218706009 . C . . NT END=218712232;NT GT ./. 2 218712102 rs55763335 A G 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.2632+131T>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.2632+131T>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.2632+131T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:28:0:0:16,12:490,360:0.00,33.42:0.00,33.42:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.9,47.8:0,0:0,0:36,41:113,109:19,36:-,NM_022648.4(TNS1) c.2632+131T>C:-,0.43:-,NOT_FOUND 2 218713811 . C . . NT END=218714399;NT GT ./. 2 218713924 rs7587518 A G 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-114T>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-114T>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-114T>C;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:11:0:0:18,25:561,810:0.00,80.21:0.00,15.27:0.00,64.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,43.3:0,0:0,0:119,118:31,32:21,21:-,NM_022648.4(TNS1) c.1055-114T>C:-,0.42:-,NOT_FOUND 2 218714201 rs11902263 T G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-391A>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-391A>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-391A>C;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:G,T:14:13:0:0:5,9:177,293:16.12,0.00:16.32,0.00:-0.19,0.00:0.90,0.00:0.99,0.00:0.57,0.00:60,60:69.0,10.3:0,0:0,0:26,29:123,122:16,22:NM_022648.4(TNS1) c.1055-391A>C,-:0.42,-:NOT_FOUND,- 2 218714218 rs11902267 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-408A>G;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-408A>G;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-408A>G;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:14:0:0:6,9:201,294:18.58,0.00:18.80,0.00:-0.22,0.00:0.96,0.00:1.00,0.00:0.60,0.00:60,60:63.0,10.3:0,0:0,0:37,46:112,105:17,22:NM_022648.4(TNS1) c.1055-408A>G,-:0.44,-:NOT_FOUND,- 2 218714330 rs10170040 A T 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-520T>A;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-520T>A;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-520T>A;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:51:49:0:0:27,24:865,815:0.00,77.64:0.00,70.07:0.00,7.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,41.3:0,0:0,0:53,60:98,90:38,35:-,NM_022648.4(TNS1) c.1055-520T>A:-,0.35:-,NOT_FOUND 2 218714496 rs16858371 C T 180 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=0.011;Gene=TNS1/NM_001308022.1/0;CC=c.1055-686G>A;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-686G>A;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-686G>A;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:122:92:0:0:64,58:2080,1890:0.00,180.00:0.00,100.44:0.00,79.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,38.9:0,0:0,0:85,48:63,102:35,36:-,NM_022648.4(TNS1) c.1055-686G>A:-,0.4:-,NOT_FOUND 2 218714686 rs3791978 A C 503 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=NA;PC=0.062;Gene=TNS1/NM_001308022.1/0;CC=c.1055-876T>G;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-876T>G;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-876T>G;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:132:79:0:0:132:4400:502.80:260.12:242.68:1.00:1.00:1.00:60:45.6:0:0:84:66:40:NM_022648.4(TNS1) c.1055-876T>G,NM_022648.4(TNS1) c.1055-876T>G:0.5,0.5:NOT_FOUND,NOT_FOUND 2 218714851 rs3791976 T A 622 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=165;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TNS1/NM_001308022.1/0;CC=c.1055-1041A>T;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-1041A>T;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-1041A>T;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:165:105:0:0:165:5439:622.42:291.73:330.69:1.00:1.00:1.00:60:40.5:0:0:72:74:44:NM_022648.4(TNS1) c.1055-1041A>T,NM_022648.4(TNS1) c.1055-1041A>T:0.68,0.68:NOT_FOUND,NOT_FOUND 2 218715304 . a . . NT END=218723214;NT GT ./. 2 218715305 . G GAC 88 idl,rn VT=INS;SST=Single;DP=134;NP=11;NP=6;Gene=TNS1/NM_001308022.1/0;CC=c.1055-1496_1055-1495insGT;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-1496_1055-1495insGT;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-1496_1055-1495insGT;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,GAC,D:127:84:38:8:1,4,83,33,6:10,95,2748,1194,236:-0.18,4.69,0.00,88.38,10.18:-0.03,0.81,0.00,51.49,5.73:-0.15,3.88,0.00,36.89,4.45:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:20.0,82.2,21.4,40.7,77.8:0,0,0,5,2:0,0,0,0,0:110,78,106,65,74:41,49,38,83,74:0,24,26,15,10:-,NM_022648.4(TNS1) c.1055-1496_1055-1495insGT:-,NOT_FOUND:-,NOT_FOUND 2 218715348 rs55994063 G A 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=1;PC=0.002;Gene=TNS1/NM_001308022.1/0;CC=c.1055-1538C>T;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-1538C>T;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-1538C>T;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:122:57:0:1:12,110:365,3299:25.33,0.00:13.78,0.00:11.55,0.00:0.99,0.00:0.98,0.00:1.00,0.00:60,60:72.8,57.3:1,1:0,0:139,87:7,50:8,31:NM_022648.4(TNS1) c.1055-1538C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 218715351 rs56391849 C T 338 nt VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;PC=0.005;Gene=TNS1/NM_001308022.1/0;CC=c.1055-1541G>A;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-1541G>A;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-1541G>A;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C,T:118:53:0:0:1,17,100:12,423,3113:0.07,0.00,338.06:0.09,0.00,75.20:-0.02,0.00,262.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.0,58.1,58.2:0,2,0:0,0,0:97,114,90:54,9,44:0,24,32:-,NM_022648.4(TNS1) c.1055-1541G>A:-,0.43:-,NOT_FOUND 2 218715406 rs17733847 A C 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-1596T>G;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-1596T>G;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-1596T>G;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:71:9:0:0:36,35:1093,1022:0.00,97.44:0.00,7.64:0.00,89.80:0.00,1.00:0.00,0.99:0.00,1.00:60,60:38.2,69.4:0,0:0,0:86,100:65,47:38,27:-,NM_022648.4(TNS1) c.1055-1596T>G:-,0.18:-,NOT_FOUND 2 218716190 rs566290840 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-2380T>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-2380T>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-2380T>C;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:5:0:0:2,3:70,98:0.00,9.77:0.00,6.41:0.00,3.36:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,35.3:0,0:0,0:43,55:68,96:4,28:-,NM_022648.4(TNS1) c.1055-2380T>C:-,0.17:-,NOT_FOUND 2 218723064 rs3791956 A G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-9254T>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-9254T>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-9254T>C;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:A,G:14:14:0:0:6,8:172,198:0.00,19.41:0.00,19.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:47.8,63.4:0,0:0,0:66,26:85,124:28,18:-,NM_022648.4(TNS1) c.1055-9254T>C:-,0.21:-,NOT_FOUND 2 218723084 rs3791955 A C 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-9274T>G;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-9274T>G;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-9274T>G;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,C:17:17:0:0:7,10:176,323:0.00,32.10:0.00,32.10:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:53.6,57.2:0,0:0,0:67,37:84,113:38,17:-,NM_022648.4(TNS1) c.1055-9274T>G:-,0.21:-,NOT_FOUND 2 218723324 . G . . NT END=218724376;NT GT ./. 2 218723394 rs370645420 T TACACACACAC 9 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TNS1/NM_001308022.1/0;CC=c.1055-9585_1055-9584insGTGTGTGTGT;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-9585_1055-9584insGTGTGTGTGT;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-9585_1055-9584insGTGTGTGTGT;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:T,TACACACACAC,D:26:12:5:1:21,4,1:620,144,30:0.00,9.44,1.71:0.00,3.90,-0.10:0.00,5.53,1.80:0.00,0.66,0.00:0.00,0.79,0.00:0.00,0.94,0.00:60,60,60:25.9,45.0,61.0:0,1,0:0,0,0:119,78,59:31,73,92:23,14,0:-,NM_022648.4(TNS1) c.1055-9585_1055-9584insGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 218723455 rs6436017 A G 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.1055-9645T>C;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.1055-9645T>C;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.1055-9645T>C;VC=Intron;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:3:0:0:9,10:252,315:0.00,30.55:0.00,5.04:0.00,25.52:0.00,1.00:0.00,0.90:0.00,1.00:60,60:48.1,40.5:0,0:0,0:118,73:27,77:26,41:-,NM_022648.4(TNS1) c.1055-9645T>C:-,0.64:-,NOT_FOUND 2 218724399 . G . . NT END=218745620;NT GT ./. 2 218745685 rs10199795 G A 276 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=TNS1/NM_001308022.1/0;CC=c.990C>T;ProtCh=p.S330=;VC=Silent;Gene=TNS1/NM_001308023.1/0;CC=c.990C>T;ProtCh=p.S330=;VC=Silent;Gene=TNS1/NM_022648.5/1;CC=c.990C>T;ProtCh=p.S330=;VC=Silent;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:72:53:0:0:72:2413:275.56:148.29:127.27:1.00:1.00:1.00:60:50.4:0:0:61:87:20:NM_022648.4(TNS1) c.990C>T (p.(=)),NM_022648.4(TNS1) c.990C>T (p.(=)):0.58,0.58:0.597801,0.597801 2 218745717 rs138239490 C G 81 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=35;PC=0.972;Gene=TNS1/NM_001308022.1/0;CC=c.958G>C;ProtCh=p.G320R;VC=Missense;Gene=TNS1/NM_001308023.1/0;CC=c.958G>C;ProtCh=p.G320R;VC=Missense;Gene=TNS1/NM_022648.5/1;CC=c.958G>C;ProtCh=p.G320R;VC=Missense;DM=TNS1/PTEN_C2;DM=TNS1/PTEN_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:66:46:0:0:39,27:1181,874:0.00,80.93:0.00,38.96:0.00,41.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.1,65.7:0,0:0,0:94,78:55,64:21,24:-,NM_022648.4(TNS1) c.958G>C (p.Gly320Arg):-,0.01:-,0.003921 2 218745738 . C . . NT END=218747068;NT GT ./. 2 218747135 . C . . NT END=218749757;NT GT ./. 2 218749888 . C . . NT END=218750466;NT GT ./. 2 218750543 . C . . NT END=218750766;NT GT ./. 2 218750828 . C . . NT END=218751256;NT GT ./. 2 218751370 . C . . NT END=218755684;NT GT ./. 2 218755769 . C . . NT END=218757670;NT GT ./. 2 218757736 . C . . NT END=218758161;NT GT ./. 2 218758123 . GCA G 50 idl,rn VT=DEL;SST=Single;DP=199;NP=119;Gene=TNS1/NM_001308022.1/0;CC=c.342+37_342+38delTG;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.342+37_342+38delTG;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.342+37_342+38delTG;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,GCA,I,G:197:167:6:25:10,1,158,6,22:311,9,4637,200,748:19.42,-0.30,0.00,11.66,49.59:12.73,-0.22,0.00,6.74,31.10:6.68,-0.08,0.00,4.92,18.49:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,70:41.7,192.0,15.1,2.2,17.3:0,0,1,0,2:0,0,0,0,0:50,55,55,31,60:94,96,85,116,79:43,0,30,10,21:-,NM_022648.4(TNS1) c.342+37_342+38delTG:-,NOT_FOUND:-,NOT_FOUND 2 218758285 . C . . NT END=218759728;NT GT ./. 2 218759780 . C . . NT END=218762520;NT GT ./. 2 218762693 . C . . NT END=218765185;NT GT ./. 2 218765236 . C . . NT END=218768325;NT GT ./. 2 218768365 . g . . NT END=218935328;NT GT ./. 2 218774294 rs5838672 C CCACA 7 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;NP=77;Gene=TNS1/NM_001308022.1/0;CC=c.-147-2321_-147-2320insTGTG;VC=Intron;Gene=TNS1/NM_001308023.1/0;CC=c.-147-2321_-147-2320insTGTG;VC=Intron;Gene=TNS1/NM_022648.5/1;CC=c.-147-2321_-147-2320insTGTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CCACA:3:4:4:0:1,2:33,116:0.00,6.74:0.00,3.37:0.00,3.37:0.00,0.46:0.00,0.87:0.00,0.87:60,60:0.0,12.0:0,2:0,0:138,73:12,66:0,6:-,NM_022648.4(TNS1) c.-147-2321_-147-2320insTGTG:-,NOT_FOUND:-,NOT_FOUND 2 218935375 . G . . NT END=218935475;NT GT ./. 2 218935583 . G . . NT END=218937096;NT GT ./. 2 218937223 . G . . NT END=218937501;NT GT ./. 2 218937609 . G . . NT END=218937965;NT GT ./. 2 218938110 . G . . NT END=218938538;NT GT ./. 2 218938609 . G . . NT END=218939815;NT GT ./. 2 218939630 rs10932744 C T 98 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=RUFY4/NR_034176.1/0;VC=NonCoding;Gene=RUFY4/NM_198483.3/1;CC=c.601-186C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:29:0:0:29:843:98.08:98.08:0.00:1.00:1.00:0.00:60:52.4:0:0:46:101:29:NM_198483.3(RUFY4) c.601-186C>T,NM_198483.3(RUFY4) c.601-186C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 2 218940464 . G . . NT END=218941149;NT GT ./. 2 218941095 rs6759925 C G 100 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=RUFY4/NR_034176.1/0;VC=NonCoding;Gene=RUFY4/NM_198483.3/1;CC=c.1249-55C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:26:0:0:26:872:99.60:99.60:0.00:1.00:1.00:0.00:60:38.4:0:0:36:115:24:NM_198483.3(RUFY4) c.1249-55C>G,NM_198483.3(RUFY4) c.1249-55C>G:0.15,0.15:NOT_FOUND,NOT_FOUND 2 218941257 . G . . NT END=218947832;NT GT ./. 2 218947980 . G . . NT END=218953974;NT GT ./. 2 218954086 . G . . NT END=218954674;NT GT ./. 2 218954778 . C . . NT END=218999524;NT GT ./. 2 219000310 rs2230054 C T 658 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=181;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CXCR2/NM_001168298.1/1;CC=c.786C>T;ProtCh=p.L262=;VC=Silent;Gene=CXCR2/NM_001557.3/0;CC=c.786C>T;ProtCh=p.L262=;VC=Silent;DM=CXCR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:181:126:0:0:181:5719:657.95:352.69:305.26:1.00:1.00:1.00:60:44.2:0:0:73:74:33:NM_001557.3(CXCR2) c.786C>T (p.(=)),NM_001557.3(CXCR2) c.786C>T (p.(=)):0.48,0.48:0.550515,0.550515 2 219000608 . G . . NT END=219028881;NT GT ./. 2 219000734 rs1126579 T C 121 nt VT=SNV;PN=G;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=CXCR2/NM_001168298.1/1;CC=c.*127T>C;VC=3UTR;Gene=CXCR2/NM_001557.3/0;CC=c.*127T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:4:0:0:32:1053:120.53:9.64:110.89:1.00:1.00:1.00:60:38.8:0:0:109:42:25:NM_001557.3(CXCR2) c.*127T>C,NM_001557.3(CXCR2) c.*127T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 2 219029935 . G . . NT END=219082193;NT GT ./. 2 219065963 rs6759496 C G 58 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:12:0:0:17:496:57.65:36.23:21.42:1.00:1.00:1.00:60:32.2:0:0:67:77:26:chr2 g.219065962C>G (intergenic),chr2 g.219065962C>G (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 219066484 rs6760350 G A 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:2:0:0:15:452:52.35:3.58:48.77:1.00:1.00:1.00:60:41.6:0:0:113:38:24:chr2 g.219066483G>A (intergenic),chr2 g.219066483G>A (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 219066518 rs6718220 T C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T:10:1:0:0:4,6:114,204:10.38,0.00:-0.11,0.00:10.49,0.00:0.84,0.00:0.60,0.00:0.84,0.00:60,60:69.2,30.0:0,0:0,0:135,108:15,43:3,25:chr2 g.219066517T>C (intergenic),-:0.28,-:NOT_FOUND,- 2 219066568 rs59238775 G GA 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=70;PC=1.000;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:G,GA:5:0:4:0:1,4:32,121:0.00,12.92:0.00,0.00:0.00,12.92:0.00,0.96:0.00,0.00:0.00,0.96:60,60:37.0,49.0:0,0:0,0:146,96:4,54:0,32:-,chr2 g.219066568_219066569insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 219081983 rs56499829 T TTGGG 23 nt VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=1.000;Gene=ARPC2/NM_152862.2/1;CC=c.-9+17_-9+20dupGGTG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,T,TTGGG:17:17:8:0:3,6,8:73,142,236:6.00,0.00,23.16:6.04,0.00,23.30:-0.04,0.00,-0.14:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.65:60,60,60:82.0,36.7,34.1:1,0,0:0,0,0:6,52,44:131,80,101:0,31,31:-,NM_152862.1(ARPC2) c.-9+6_-9+7insTGGG:-,NOT_FOUND:-,NOT_FOUND 2 219082119 rs2271541 G T 58 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ARPC2/NM_152862.2/1;CC=c.-8-67G>T;VC=Intron;Gene=ARPC2/NM_005731.3/0;CC=c.-74-1G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:38:33:0:0:19,19:548,606:0.00,58.23:0.00,37.49:0.00,20.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,37.5:0,0:0,0:33,31:118,119:21,12:-,NM_152862.1(ARPC2) c.-8-67G>T:-,0.44:-,NOT_FOUND 2 219082268 . g . . NT END=219090642;NT GT ./. 2 219082330 rs12694432 A G 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ARPC2/NM_152862.2/1;CC=c.74+63A>G;VC=Intron;Gene=ARPC2/NM_005731.3/0;CC=c.74+63A>G;VC=Intron;DM=ARPC2/P34-Arc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:10:0:0:15,20:491,630:0.00,62.11:0.00,14.43:0.00,47.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,52.8:0,0:0,0:111,109:40,41:14,23:-,NM_152862.1(ARPC2) c.74+63A>G:-,0.44:-,NOT_FOUND 2 219090422 rs6757318 G A 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ARPC2/NM_152862.2/1;CC=c.75-221G>A;VC=Intron;Gene=ARPC2/NM_005731.3/0;CC=c.75-221G>A;VC=Intron;DM=ARPC2/P34-Arc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:53.8:0:0:55:96:13:NM_152862.1(ARPC2) c.75-221G>A,NM_152862.1(ARPC2) c.75-221G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 219090678 . G . . NT END=219093460;NT GT ./. 2 219093574 . G . . NT END=219099074;NT GT ./. 2 219099121 . G . . NT END=219103386;NT GT ./. 2 219099260 rs1018288 G C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ARPC2/NM_152862.2/1;CC=c.268+140G>C;VC=Intron;Gene=ARPC2/NM_005731.3/0;CC=c.268+140G>C;VC=Intron;DM=ARPC2/P34-Arc;DM=ARPC2/P34-Arc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:182:21.85:0.00:21.85:1.00:0.00:1.00:60:38.9:0:0:97:52:21:NM_152862.1(ARPC2) c.268+140G>C,NM_152862.1(ARPC2) c.268+140G>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 219103574 . G . . NT END=219104113;NT GT ./. 2 219103580 rs10169718 A G 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.998;Gene=ARPC2/NM_152862.2/1;CC=c.455+7A>G;VC=Intron;Gene=ARPC2/NM_005731.3/0;CC=c.455+7A>G;VC=Intron;DM=ARPC2/P34-Arc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:9:0:0:12,17:393,548:0.00,54.36:0.00,8.47:0.00,45.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,45.9:0,0:0,0:98,67:52,80:39,21:-,NM_152862.1(ARPC2) c.455+7A>G:-,0.44:-,0.382977 2 219104208 . G . . NT END=219110142;NT GT ./. 2 219104316 rs34974153 AT A 8 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=32;PC=0.311;Gene=ARPC2/NM_152862.2/1;CC=c.549+125delT;VC=Intron;Gene=ARPC2/NM_005731.3/0;CC=c.549+125delT;VC=Intron;DM=ARPC2/P34-Arc;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:AT,A:9:0:0:4:6,3:193,123:0.00,7.93:0.00,0.00:0.00,7.93:0.00,0.62:0.00,0.00:0.00,0.62:60,60:2.8,7.7:0,1:0,0:120,74:27,77:23,13:-,NM_152862.1(ARPC2) c.549+110delT:-,NOT_FOUND:-,NOT_FOUND 2 219110270 . G . . NT END=219114086;NT GT ./. 2 219114188 . G . . NT END=219114543;NT GT ./. 2 219114645 . G . . NT END=219118613;NT GT ./. 2 219118639 . T . . NT END=219127447;NT GT ./. 2 219118831 . T GA 9 rn VT=INS;SST=Single;DP=4;NP=3;PC=0.961;Gene=ARPC2/NM_152862.2/1;CC=c.*192_*193insG;VC=3UTR;Gene=ARPC2/NM_005731.3/0;CC=c.*192_*193insG;VC=3UTR;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:T,GA:4:0:3:0:1,3:30,82:0.00,8.65:0.00,0.00:0.00,8.65:0.00,0.85:0.00,0.00:0.00,0.85:60,70:32.0,62.7:0,0:0,0:45,72:103,79:0,22:-,NM_152862.1(ARPC2) c.*193delTinsGA:-,NOT_FOUND:-,NOT_FOUND 2 219128441 . A . . NT END=219129255;NT GT ./. 2 219128506 rs2292549 C T 162 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=GPBAR1/NM_001077191.1/0;CC=c.*66C>T;VC=3UTR;Gene=GPBAR1/NM_001077194.1/0;CC=c.*66C>T;VC=3UTR;Gene=GPBAR1/NM_170699.2/1;CC=c.*66C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T:44:15:0:0:44:1409:161.79:38.27:123.53:1.00:1.00:1.00:60:46.3:0:0:98:46:23:NM_001077191.1(GPBAR1) c.*66C>T,NM_001077191.1(GPBAR1) c.*66C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 219129332 . C . . NT END=219129742;NT GT ./. 2 219129898 . C . . NT END=219130093;NT GT ./. 2 219130185 . C . . NT END=219130301;NT GT ./. 2 219130406 . C . . NT END=219130553;NT GT ./. 2 219130670 . C . . NT END=219130786;NT GT ./. 2 219130871 . C . . NT END=219131165;NT GT ./. 2 219131311 . C . . NT END=219131569;NT GT ./. 2 219131710 . C . . NT END=219132216;NT GT ./. 2 219132337 . C . . NT END=219134104;NT GT ./. 2 219134261 . C . . NT END=219134688;NT GT ./. 2 219134810 . G . . NT END=219135258;NT GT ./. 2 219134928 rs1877714 A G 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=AAMP/NM_001087.4/1;CC=c.-119T>C;VC=5UTR;Gene=AAMP/NM_001302545.1/0;CC=c.-119T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:16:0:0:29,26:963,815:0.00,77.38:0.00,15.71:0.00,61.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.0,36.9:0,0:0,0:67,113:84,37:38,22:-,NM_001087.3(AAMP) c.-84-u35T>C:-,0.4:-,NOT_FOUND 2 219134950 rs13419763 C T 90 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:11:0:0:20,28:637,906:0.00,89.79:0.00,10.97:0.00,78.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.2,40.9:0,0:0,0:127,83:24,65:17,31:-,NM_001087.3(AAMP) c.-84-u57G>A:-,0.49:-,NOT_FOUND 2 219135326 . G . . NT END=219136103;NT GT ./. 2 219136273 . G . . NT END=219137292;NT GT ./. 2 219137671 . C . . NT END=219140197;NT GT ./. 2 219140288 rs2292550 G C 186 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+4016G>C;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.846C>G;ProtCh=p.P282=;VC=Silent;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:115:76:0:0:62,53:1911,1706:186.14,0.00:71.21,0.00:114.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.7,2.3:0,0:0,0:73,67:75,78:37,33:NM_022152.4(TMBIM1) c.846C>G (p.(=)),-:0.34,-:0.362756,- 2 219140345 . C . . NT END=219140748;NT GT ./. 2 219140803 . C . . NT END=219141726;NT GT ./. 2 219141458 rs4674280 C G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+5186C>G;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.735+269G>C;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,G:4:4:0:0:1,3:28,98:0.00,10.25:0.00,10.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:133.0,67.0:0,0:0,0:24,22:82,129:0,13:-,NM_015488.4(PNKD) c.236+5186C>G:-,0.47:-,NOT_FOUND 2 219141546 rs4674281 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+5274C>T;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.735+181G>A;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:290:33.69:33.69:0.00:1.00:1.00:0.00:60:43.1:0:0:44:106:23:NM_015488.4(PNKD) c.236+5274C>T,NM_015488.4(PNKD) c.236+5274C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 219141823 . C . . NT END=219142088;NT GT ./. 2 219142023 rs2168703 G A 99 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+5751G>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.639+66C>T;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A:30:23:0:0:30:854:99.46:78.87:20.58:1.00:1.00:1.00:60:44.1:0:0:69:81:31:NM_015488.4(PNKD) c.236+5751G>A,NM_015488.4(PNKD) c.236+5751G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 219142177 . C . . NT END=219142355;NT GT ./. 2 219142394 . C . . NT END=219142657;NT GT ./. 2 219142491 rs2271543 C T 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+6219C>T;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.514-98G>A;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:16:0:0:17,22:534,704:0.00,69.31:0.00,32.95:0.00,36.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.8,45.3:0,0:0,0:92,85:59,66:29,36:-,NM_015488.4(PNKD) c.236+6219C>T:-,0.33:-,NOT_FOUND 2 219142492 rs2168704 G A 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+6220G>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.514-99C>T;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:16:0:0:18,22:511,750:47.65,0.00:7.19,0.00:40.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.4,45.3:0,0:0,0:92,90:59,60:29,34:NM_015488.4(PNKD) c.236+6220G>A,-:0.49,-:NOT_FOUND,- 2 219142594 rs3817266 C T 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+6322C>T;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.513+64G>A;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:33:0:0:22,23:677,733:0.00,70.72:0.00,41.48:0.00,29.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,61.8:0,0:0,0:41,52:103,99:27,42:-,NM_015488.4(PNKD) c.236+6322C>T:-,0.33:-,0.358081 2 219142698 . C . . NT END=219143237;NT GT ./. 2 219142773 rs6707559 C T 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+6501C>T;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.474-76G>A;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:36:9:0:0:20,1,15:614,30,510:0.00,1.68,47.78:0.00,-0.04,6.12:0.00,1.73,41.65:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:6.0,83.0,47.8:0,0,0:0,0,0:114,32,81:37,113,70:10,0,32:-,NM_015488.4(PNKD) c.236+6501C>T:-,0.63:-,0.607753 2 219142860 rs13429408 C A 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+6588C>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.474-163G>T;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,C:15:1:0:0:6,9:194,287:17.88,0.00:-0.22,0.00:18.10,0.00:0.96,0.00:0.60,0.00:1.00,0.00:60,60:62.7,10.1:0,0:0,0:80,112:70,38:29,24:NM_015488.4(PNKD) c.236+6588C>A,-:0.5,-:NOT_FOUND,- 2 219143229 rs2292551 G A 95 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+6957G>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.473+9C>T;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:45:0:0:30,26:977,836:95.22,0.00:59.25,0.00:35.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.9,6.2:0,0:0,0:49,85:91,57:25,22:NM_015488.4(PNKD) c.236+6957G>A,-:0.33,-:0.357374,- 2 219143289 . C . . NT END=219143760;NT GT ./. 2 219143327 rs2292552 T C 93 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+7055T>C;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.423-39A>G;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:28:0:0:29,17:924,578:93.04,0.00:35.71,0.00:57.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.5,0.8:0,0:0,0:92,96:42,55:31,18:NM_015488.4(PNKD) c.236+7055T>C,-:0.33,-:0.35745,- 2 219143815 . C . . NT END=219144011;NT GT ./. 2 219144077 . C . . NT END=219144748;NT GT ./. 2 219144089 rs12987180 G A 70 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+7817G>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.304-13C>T;VC=Intron;DM=TMBIM1/Bax1-I;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:37:0:0:22,33:759,1053:70.32,0.00:31.20,0.00:39.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.0,7.6:0,0:0,0:79,76:64,68:17,29:NM_015488.4(PNKD) c.236+7817G>A,-:0.33,-:0.357297,- 2 219144149 rs12987219 G A 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+7877G>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.304-73C>T;VC=Intron;DM=TMBIM1/Bax1-I;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:38:17:0:0:14,23,1:435,763,13:39.50,0.00,0.13:13.35,0.00,-0.07:26.15,0.00,0.20:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:78.9,5.2,61.0:0,0,0:0,0,0:115,115,105:35,25,45:21,21,0:NM_015488.4(PNKD) c.236+7877G>A,-:0.33,-:NOT_FOUND,- 2 219144230 rs4674282 A T 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+7958A>T;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.304-154T>A;VC=Intron;DM=TMBIM1/Bax1-I;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:15:0:0:0:8,7:238,218:0.00,20.64:0.00,0.00:0.00,20.64:0.00,0.99:0.00,0.00:0.00,0.99:60,60:16.8,74.6:0,0:0,0:131,69:20,82:12,33:-,NM_015488.4(PNKD) c.236+7958A>T:-,0.33:-,NOT_FOUND 2 219144254 rs4674283 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+7982G>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.304-178C>T;VC=Intron;DM=TMBIM1/Bax1-I;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G,T:9:0:0:0:5,3,1:156,95,11:15.65,0.00,0.52:0.00,0.00,0.00:15.65,0.00,0.52:0.96,0.00,0.00:0.00,0.00,0.00:0.96,0.00,0.00:60,60,60:79.4,30.0,36.0:0,0,0:0,0,0:93,109,27:58,42,124:23,40,0:NM_015488.4(PNKD) c.236+7982G>A,-:0.33,-:NOT_FOUND,- 2 219144815 rs2045435 T C 320 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=3467;PC=0.001;Gene=PNKD/NM_015488.4/1;CC=c.236+8543T>C;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.237A>G;ProtCh=p.A79=;VC=Silent;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:88:61:0:0:88:2779:319.84:144.05:175.80:1.00:1.00:1.00:60:35.3:0:0:68:70:23:NM_022152.4(TMBIM1) c.=,NM_022152.4(TMBIM1) c.=:0.99,0.99:0.996309,0.996309 2 219144850 . C . . NT END=219146662;NT GT ./. 2 219146607 rs7585702 T C 77 nt VT=SNV;PN=A;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+10335T>C;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.202+56A>G;VC=Intron;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:49:0:0:25,26:805,793:77.05,0.00:61.58,0.00:15.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,16.4:0,0:0,0:53,32:98,118:26,27:NM_015488.4(PNKD) c.236+10335T>C,-:0.33,-:NOT_FOUND,- 2 219146803 rs2292553 G A 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=NA;PC=0.995;Gene=PNKD/NM_015488.4/1;CC=c.236+10531G>A;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.62C>T;ProtCh=p.P21L;VC=Missense;DM=TMBIM1/Bax1-I GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:58:0:0:45,47:1502,1476:143.98,0.00:79.03,0.00:64.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,43.9:0,0:0,0:65,80:82,56:37,37:NM_022152.4(TMBIM1) c.62C>T (p.Pro21Leu),-:0.47,-:0.410538,- 2 219146865 . G . . NT END=219187901;NT GT ./. 2 219146868 rs2292554 T C 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.236+10596T>C;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.-4A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:45:0:0:35,40:998,1279:93.85,0.00:32.61,0.00:61.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.3,39.0:0,0:0,0:89,90:56,52:31,32:NM_022152.4(TMBIM1) c.-4A>G,-:0.34,-:0.359166,- 2 219146882 rs2292555 G C 88 nt VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;PC=1.000;Gene=PNKD/NM_015488.4/1;CC=c.236+10610G>C;VC=Intron;Gene=TMBIM1/NM_022152.4/1;CC=c.-18C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:69:37:0:0:33,36:934,1177:88.28,0.00:26.29,0.00:61.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.1,36.7:0,0:0,0:99,97:49,46:28,28:NM_022152.4(TMBIM1) c.-18C>G,-:0.33,-:0.334567,- 2 219187603 rs10193189 C A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.004;Gene=PNKD/NM_015488.4/1;CC=c.237-16903C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,C,G:7:7:0:0:5,1,1:143,30,5:15.41,0.00,0.18:15.41,0.00,0.18:0.00,0.00,0.00:0.98,0.00,0.00:0.98,0.00,0.00:0.00,0.00,0.00:60,60,60:66.4,144.0,101.0:0,0,0:0,0,0:13,3,42:138,137,109:11,0,0:NM_015488.4(PNKD) c.237-16903C>A,-:0.61,-:NOT_FOUND,- 2 219187698 rs1870123 G A 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.006;Gene=PNKD/NM_015488.4/1;CC=c.237-16808G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:17:17:0:0:9,1,7:270,10,214:26.51,0.22,0.00:26.51,0.22,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:68.8,144.0,17.1:0,0,0:0,0,0:85,98,30:66,42,121:23,0,29:NM_015488.4(PNKD) c.237-16808G>A,-:0.65,-:NOT_FOUND,- 2 219187740 rs1870124 C T 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.237-16766C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:15,14:521,354:0.00,33.28:0.00,33.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.6,52.9:0,0:0,0:31,81:117,70:18,58:-,NM_015488.4(PNKD) c.237-16766C>T:-,0.6:-,NOT_FOUND 2 219187771 rs5838692 C CGG 149 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=645;Gene=PNKD/NM_015488.4/1;CC=c.237-16733_237-16732dupGG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:G,CGG:42:40:41:0:1,41:33,1297:2.16,148.81:1.08,134.35:1.08,14.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,19.5:0,0:0,0:0,43:120,108:0,23:NM_015488.4(PNKD) c.237-16735_237-16734insGG,NM_015488.4(PNKD) c.237-16735_237-16734insGG:1,1:NOT_FOUND,NOT_FOUND 2 219187901 rs1870125 C T 110 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.237-16605C>T;VC=Intron;Gene=PNKD/NM_022572.4/0;CC=c.-89-1C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:123:97:0:0:1,77,1,44:10,2486,11,1237:-0.19,0.00,-0.16,110.18:-0.10,0.00,-0.08,63.86:-0.09,0.00,-0.09,46.33:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:183.0,12.3,11.0,37.2:0,0,0,0:0,0,0,0:60,76,104,62:70,68,46,85:0,27,0,28:-,NM_015488.4(PNKD) c.237-16605C>T:-,0.51:-,NOT_FOUND 2 219188155 . G . . NT END=219204505;NT GT ./. 2 219204622 . G . . NT END=219204751;NT GT ./. 2 219204865 . G . . NT END=219205450;NT GT ./. 2 219205510 . G . . NT END=219206256;NT GT ./. 2 219206350 . G . . NT END=219206703;NT GT ./. 2 219206868 . G . . NT END=219208222;NT GT ./. 2 219206919 rs3816562 C T 81 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.781+52C>T;VC=Intron;Gene=PNKD/NM_022572.4/0;CC=c.709+52C>T;VC=Intron;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding;DM=PNKD/Lactamase_B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:13:0:0:20,25:663,822:0.00,80.70:0.00,12.85:0.00,67.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,37.6:0,0:0,0:116,100:35,50:15,22:-,NM_015488.4(PNKD) c.781+52C>T:-,0.49:-,0.41912 2 219208310 . G . . NT END=219209177;NT GT ./. 2 219209294 . G . . NT END=219209530;NT GT ./. 2 219209393 rs1350336 A G 198 nt VT=SNV;PN=A;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=PNKD/NM_015488.4/1;CC=c.984+100A>G;VC=Intron;Gene=PNKD/NM_022572.4/0;CC=c.912+100A>G;VC=Intron;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding;DM=PNKD/HAGH_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:G:54:19:0:0:54:1727:198.29:71.62:126.67:1.00:1.00:1.00:60:41.2:0:0:87:63:38:NM_015488.4(PNKD) c.984+100A>G,NM_015488.4(PNKD) c.984+100A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 219209705 . T . . NT END=219221607;NT GT ./. 2 219209796 rs921970 C A 34 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.009;Gene=PNKD/NM_015488.4/1;CC=c.*92C>A;VC=3UTR;Gene=PNKD/NM_022572.4/0;CC=c.*92C>A;VC=3UTR;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:6:0:0:14,12:350,379:33.79,0.00:7.92,0.00:25.88,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:40.5,15.9:0,0:0,0:121,95:28,56:18,43:NM_015488.4(PNKD) c.*92C>A,-:0.3,-:NOT_FOUND,- 2 219219072 rs4672888 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.883;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:16:0:0:8,9:240,302:0.00,29.41:0.00,24.35:0.00,5.06:0.00,1.00:0.00,1.00:0.00,0.97:60,60:5.6,37.3:0,0:0,0:45,25:105,126:40,17:-,NM_198559.1(C2orf62) c.-29-u2507C>T:-,0.28:-,NOT_FOUND 2 219221355 rs3892153 A T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,T:5:5:0:0:1,4:34,118:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,29.5:0,0:0,0:77,35:74,115:0,16:-,NM_198559.1(C2orf62) c.-29-u224A>T:-,0.4:-,NOT_FOUND 2 219221633 . G . . NT END=219221817;NT GT ./. 2 219221846 rs4324314 G A 103 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding;Gene=CATIP/NM_198559.1/1;CC=c.54G>A;ProtCh=p.S18=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:41:0:0:33,33:1075,1003:103.41,0.00:43.73,0.00:59.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,10.9:0,0:0,0:62,74:72,66:37,30:NM_198559.1(C2orf62) c.54G>A (p.(=)),-:0.15,-:0.172613,- 2 219221911 . G . . NT END=219222256;NT GT ./. 2 219221982 . GTC G 12 idl,rn VT=DEL;SST=Single;DP=19;NP=6;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding;Gene=CATIP/NM_198559.1/1;CC=c.118+102_118+103delCT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:GTC,I,G:19:3:2:7:12,2,5:337,63,138:0.00,4.72,11.70:0.00,-0.07,2.20:0.00,4.79,9.50:0.00,0.00,0.86:0.00,0.00,0.63:0.00,0.00,0.98:60,60,60:41.0,28.0,37.0:0,0,0:0,0,0:138,75,50:11,68,101:6,7,17:-,NM_198559.1(C2orf62) c.118+73_118+74delTC:-,NOT_FOUND:-,NOT_FOUND 2 219222123 rs10172824 C T 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=CATIP-AS2/NR_125777.1/0;VC=NonCoding;Gene=CATIP/NM_198559.1/1;CC=c.119-134C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:18:0:0:11,13:323,424:0.00,41.48:0.00,31.90:0.00,9.59:0.00,1.00:0.00,1.00:0.00,0.99:60,60:32.9,51.2:0,0:0,0:50,104:101,47:32,31:-,NM_198559.1(C2orf62) c.119-134C>T:-,0.5:-,0.471091 2 219222458 . G . . NT END=219222759;NT GT ./. 2 219222816 . G . . NT END=219225295;NT GT ./. 2 219225162 rs4674296 T C 61 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CATIP/NM_198559.1/1;CC=c.376-134T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:523:60.82:60.82:0.00:1.00:1.00:0.00:60:39.6:0:0:70:81:44:NM_198559.1(C2orf62) c.376-134T>C,NM_198559.1(C2orf62) c.376-134T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 219225383 . G . . NT END=219227457;NT GT ./. 2 219227626 . G . . NT END=219229350;NT GT ./. 2 219227756 rs6723716 T C 49 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=CATIP/NM_198559.1/1;CC=c.630+131T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:0:0:0:18,12:494,370:49.10,0.00:0.00,0.00:49.10,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.7,11.6:0,0:0,0:101,120:50,30:32,12:NM_198559.1(C2orf62) c.630+131T>C,-:0.5,-:NOT_FOUND,- 2 219229147 rs4674297 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=CATIP/NM_198559.1/1;CC=c.631-204G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:A,G:15:15:0:0:5,10:174,290:15.64,0.00:15.64,0.00:0.00,0.00:0.89,0.00:0.89,0.00:0.00,0.00:60,60:38.4,10.2:0,0:0,0:57,75:94,75:40,32:NM_198559.1(C2orf62) c.631-204G>A,-:0.2,-:NOT_FOUND,- 2 219229476 . G . . NT END=219231746;NT GT ./. 2 219229641 rs11696005 T C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=CATIP/NM_198559.1/1;CC=c.755+166T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:11:0:0:0:6,5:183,153:17.87,0.00:0.00,0.00:17.87,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:43.5,11.8:0,0:0,0:107,119:44,32:17,10:NM_198559.1(C2orf62) c.755+166T>C,-:0.2,-:NOT_FOUND,- 2 219231807 rs3845833 C T 188 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=3465;PC=0.009;Gene=CATIP/NM_198559.1/1;CC=c.816C>T;ProtCh=p.P272=;VC=Silent;Gene=CATIP-AS1/NR_110573.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:T:51:30:0:0:51:1633:187.51:70.11:117.40:1.00:1.00:1.00:60:42.6:0:0:99:46:21:NM_198559.1(C2orf62) c.=,NM_198559.1(C2orf62) c.=:0.99,0.99:0.996848,0.996848 2 219231824 . G . . NT END=219232152;NT GT ./. 2 219232242 . G . . NT END=219232444;NT GT ./. 2 219232354 rs7608923 C A 163 nt VT=SNV;PN=G;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=CATIP/NM_198559.1/1;CC=c.922-91C>A;VC=Intron;Gene=CATIP-AS1/NR_110573.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:90:73:0:0:52,37,1:1646,1228,32:163.13,0.00,1.55:116.91,0.00,1.61:46.22,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.8,4.5,32.0:0,0,0:0,0,0:54,54,33:96,95,118:40,33,0:NM_198559.1(C2orf62) c.922-91C>A,-:0.55,-:NOT_FOUND,- 2 219232688 . G . . NT END=219247091;NT GT ./. 2 219247099 . G . . NT END=219247682;NT GT ./. 2 219247826 . G . . NT END=219248965;NT GT ./. 2 219249013 rs2276631 C T 151 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=NA;PC=0.998;Gene=SLC11A1/NM_000578.3/1;CC=c.198C>T;ProtCh=p.F66=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:97:71:0:0:47,50:1583,1567:0.00,151.25:0.00,76.55:0.00,74.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,37.6:0,0:0,0:97,72:54,77:32,32:-,NM_000578.3(SLC11A1) c.198C>T (p.(=)):-,0.19:-,0.236122 2 219249089 . G . . NT END=219249869;NT GT ./. 2 219249771 rs6734861 C G 92 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=SLC11A1/NM_000578.3/1;CC=c.274-99C>G;VC=Intron;DM=SLC11A1/Nramp;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:59:59:0:0:28,31:881,947:0.00,91.67:0.00,76.60:0.00,15.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.1,40.1:0,0:0,0:43,39:107,106:35,15:-,NM_000578.3(SLC11A1) c.274-99C>G:-,0.17:-,NOT_FOUND 2 219249990 . G . . NT END=219251357;NT GT ./. 2 219250003 rs3731865 G C 125 nt VT=SNV;PN=G;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=NA;Gene=SLC11A1/NM_000578.3/1;CC=c.393+14G>C;VC=Intron;DM=SLC11A1/Nramp;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:107:55:0:0:42,65:1358,2175:124.70,0.00:28.41,0.00:96.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,6.7:0,0:0,0:103,69:43,69:28,30:NM_000578.3(SLC11A1) c.393+14G>C,-:0.17,-:0.209442,- 2 219251465 . G . . NT END=219251882;NT GT ./. 2 219251954 . G . . NT END=219252287;NT GT ./. 2 219252274 . G C 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=61;Gene=SLC11A1/NM_000578.3/1;CC=c.572-14G>C;VC=Intron;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:61:52:0:0:26,35:860,1009:80.40,0.00:59.24,0.00:21.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.9,11.3:0,0:0,0:38,65:105,83:21,32:NM_000578.3(SLC11A1) c.572-14G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 219252356 . G . . NT END=219252522;NT GT ./. 2 219252377 rs2290708 C T 130 nt VT=SNV;PN=C;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;Gene=SLC11A1/NM_000578.3/1;CC=c.639+22C>T;VC=Intron;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:61:0:0:45,43:1401,1357:0.00,129.68:0.00,88.53:0.00,41.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,50.3:0,0:0,0:72,62:79,79:35,39:-,NM_000578.3(SLC11A1) c.639+22C>T:-,0.16:-,0.21936 2 219252679 . G . . NT END=219254592;NT GT ./. 2 219254362 rs150937489 A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=5;PC=0.006;Gene=SLC11A1/NM_000578.3/1;CC=c.796-231A>G;VC=Intron;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:8:8:0:0:5,3:164,94:0.00,8.53:0.00,8.53:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:0.0,41.0:0,0:0,0:61,54:90,96:22,2:-,NM_000578.3(SLC11A1) c.796-231A>G:-,0.0009:-,NOT_FOUND 2 219254622 rs2695342 A G 416 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;Gene=SLC11A1/NM_000578.3/1;CC=c.825A>G;ProtCh=p.A275=;VC=Silent;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:118:91:0:0:117,1:3607,11:415.67,0.10:236.55,0.10:179.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,75.0:0,0:0,0:60,49:82,102:39,0:NM_000578.3(SLC11A1) c.825A>G (p.(=)),NM_000578.3(SLC11A1) c.825A>G (p.(=)):0.98,0.98:0.987083,0.987083 2 219254752 . G . . NT END=219255920;NT GT ./. 2 219254842 rs3816560 T C 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=SLC11A1/NM_000578.3/1;CC=c.954+91T>C;VC=Intron;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:6:0:0:23,27:751,840:71.08,0.00:4.75,0.00:66.33,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:49.1,12.8:0,0:0,0:116,76:33,75:25,25:NM_000578.3(SLC11A1) c.954+91T>C,-:0.2,-:NOT_FOUND,- 2 219254880 rs35581807 A AT 29 nt VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=711;PC=0.006;Gene=SLC11A1/NM_000578.3/1;CC=c.954+130dupT;VC=Intron;DM=SLC11A1/Nramp;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:36:0:10:0:26,10:808,338:0.00,29.34:0.00,0.00:0.00,29.34:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.9,30.4:0,0:0,0:101,70:49,80:25,29:-,NM_000578.3(SLC11A1) c.954+129_954+130insT:-,0.2:-,NOT_FOUND 2 219256011 . G . . NT END=219256098;NT GT ./. 2 219256219 . G . . NT END=219257703;NT GT ./. 2 219257688 rs2045433 T C 268 nt VT=SNV;PN=G;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=3453;Gene=SLC11A1/NM_000578.3/1;CC=c.1165-16T>C;VC=Intron;DM=SLC11A1/Nramp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:183:A,C:68:62:0:0:1,67:11,2363:0.18,267.82:0.00,198.92:0.18,68.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,41.5:0,0:0,0:10,61:141,85:0,29:NM_000578.3(SLC11A1) c.1165-16T>C,NM_000578.3(SLC11A1) c.1165-16T>C:0.99,0.99:0.991081,0.991081 2 219257854 . G . . NT END=219258842;NT GT ./. 2 219258917 . G . . NT END=219259354;NT GT ./. 2 219259270 rs2279015 G A 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=SLC11A1/NM_000578.3/1;CC=c.1389-85G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:57:0:0:30,31:932,1013:89.12,0.00:78.40,0.00:10.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,10.1:0,0:0,0:39,47:111,104:28,32:NM_000578.3(SLC11A1) c.1389-85G>A,-:0.45,-:NOT_FOUND,- 2 219259509 . G . . NT END=219259647;NT GT ./. 2 219259759 . G . . NT END=219263135;NT GT ./. 2 219259844 rs1059823 A G 29 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=SLC11A1/NM_000578.3/1;CC=c.*86A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:0:0:0:18,10:553,322:0.00,29.06:0.00,0.00:0.00,29.06:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.1,33.3:0,0:0,0:90,100:60,51:29,18:-,NM_000578.3(SLC11A1) c.*86A>G:-,0.46:-,NOT_FOUND 2 219263203 . G . . NT END=219264477;NT GT ./. 2 219263277 rs2695344 A G 119 nt VT=SNV;PN=G;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CTDSP1/NM_001206878.1/1;CC=c.67+75A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:6:0:0:32:1038:118.95:12.97:105.98:1.00:1.00:1.00:60:45.0:0:0:95:55:39:NM_001206878.1(CTDSP1) c.67+75A>G,NM_001206878.1(CTDSP1) c.67+75A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 219264881 . G . . NT END=219266286;NT GT ./. 2 219265094 rs2579958 T C 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.68-1193T>C;VC=Intron;Gene=CTDSP1/NM_021198.2/0;CC=c.67+214T>C;VC=Intron;Gene=CTDSP1/NM_182642.2/0;CC=c.67+214T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:1:0:0:7:224:25.74:3.58:22.16:1.00:1.00:1.00:60:49.3:0:0:113:38:27:NM_001206878.1(CTDSP1) c.68-1193T>C,NM_001206878.1(CTDSP1) c.68-1193T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 219265136 rs397959578 T TC 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=80;Gene=CTDSP1/NM_001206878.1/1;CC=c.68-1150dupC;VC=Intron;Gene=CTDSP1/NM_021198.2/0;CC=c.67+257dupC;VC=Intron;Gene=CTDSP1/NM_182642.2/0;CC=c.67+257dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TC:4:2:4:0:4:122:14.11:7.25:6.85:1.00:1.00:1.00:60:67.2:0:0:118:32:10:NM_001206878.1(CTDSP1) c.68-1151_68-1150insC,NM_001206878.1(CTDSP1) c.68-1151_68-1150insC:1,1:NOT_FOUND,NOT_FOUND 2 219266108 rs2607726 C G 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.68-179C>G;VC=Intron;Gene=CTDSP1/NM_021198.2/0;CC=c.68-179C>G;VC=Intron;Gene=CTDSP1/NM_182642.2/0;CC=c.68-179C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:448:52.30:52.30:0.00:1.00:1.00:0.00:60:39.0:0:0:52:99:24:NM_001206878.1(CTDSP1) c.68-179C>G,NM_001206878.1(CTDSP1) c.68-179C>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 219266204 rs2252235 T C 68 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.68-83T>C;VC=Intron;Gene=CTDSP1/NM_021198.2/0;CC=c.68-83T>C;VC=Intron;Gene=CTDSP1/NM_182642.2/0;CC=c.68-83T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:40:0:0:23,22:707,641:68.16,0.00:50.15,0.00:18.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,30.1:0,0:0,0:52,42:99,107:27,20:NM_001206878.1(CTDSP1) c.68-83T>C,-:0.57,-:NOT_FOUND,- 2 219266423 rs2227251 C A 151 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.204C>A;ProtCh=p.G68=;VC=Silent;Gene=CTDSP1/NM_021198.2/0;CC=c.204C>A;ProtCh=p.G68=;VC=Silent;Gene=CTDSP1/NM_182642.2/0;CC=c.204C>A;ProtCh=p.G68=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:107:65:0:0:49,57,1:1593,1783,12:150.96,0.00,-0.08:63.50,0.00,-0.08:87.46,0.00,0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.1,8.6,58.0:0,0,0:0,0,0:78,87,28:67,58,123:32,25,0:NM_001206878.1(CTDSP1) c.204C>A (p.(=)),-:0.17,-:0.21121,- 2 219266436 . G . . NT END=219266833;NT GT ./. 2 219266632 rs2607727 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.216+197C>T;VC=Intron;Gene=CTDSP1/NM_021198.2/0;CC=c.216+197C>T;VC=Intron;Gene=CTDSP1/NM_182642.2/0;CC=c.216+197C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:12:3:0:0:8,4:230,125:0.00,11.09:0.00,2.85:0.00,8.25:0.00,0.80:0.00,0.73:0.00,0.96:60,60:31.2,33.8:0,0:0,0:111,80:40,71:22,31:-,NM_001206878.1(CTDSP1) c.216+197C>T:-,0.64:-,NOT_FOUND 2 219266939 . G . . NT END=219267071;NT GT ./. 2 219267129 . G . . NT END=219267757;NT GT ./. 2 219267781 rs2227255 C T 110 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.399C>T;ProtCh=p.H133=;VC=Silent;Gene=CTDSP1/NM_021198.2/0;CC=c.402C>T;ProtCh=p.H134=;VC=Silent;Gene=CTDSP1/NM_182642.2/0;CC=c.399C>T;ProtCh=p.H133=;VC=Silent;DM=CTDSP1/NIF;DM=CTDSP1/NIF;DM=CTDSP1/NIF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:96:70:0:0:57,39:1771,1200:0.00,110.38:0.00,53.39:0.00,56.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,41.4:0,0:0,0:60,61:82,87:28,20:-,NM_001206878.1(CTDSP1) c.399C>T (p.(=)):-,0.51:-,0.449408 2 219267851 . G . . NT END=219267954;NT GT ./. 2 219267913 rs2227258 A G 153 nt VT=SNV;PN=A;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.469-42A>G;VC=Intron;Gene=CTDSP1/NM_021198.2/0;CC=c.472-42A>G;VC=Intron;Gene=CTDSP1/NM_182642.2/0;CC=c.469-42A>G;VC=Intron;DM=CTDSP1/NIF;DM=CTDSP1/NIF;DM=CTDSP1/NIF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:105:80:0:0:57,48:1737,1614:0.00,152.87:0.00,93.07:0.00,59.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,40.5:0,0:0,0:60,58:90,90:37,33:-,NM_001206878.1(CTDSP1) c.469-42A>G:-,0.58:-,0.536137 2 219268141 . G . . NT END=219269019;NT GT ./. 2 219268803 rs2579959 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=CTDSP1/NM_001206878.1/1;CC=c.655-217G>A;VC=Intron;Gene=CTDSP1/NM_021198.2/0;CC=c.658-217G>A;VC=Intron;Gene=CTDSP1/NM_182642.2/0;CC=c.655-217G>A;VC=Intron;DM=CTDSP1/NIF;DM=CTDSP1/NIF;DM=CTDSP1/NIF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:9:9:0:0:6,3:159,90:16.24,0.00:16.24,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:66.0,0.0:0,0:0,0:90,26:60,125:16,1:NM_001206878.1(CTDSP1) c.655-217G>A,-:0.58,-:NOT_FOUND,- 2 219269149 . T . . NT END=219288501;NT GT ./. 2 219288382 rs4672893 A G 68 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=VIL1/NM_007127.2/1;CC=c.-11-109A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:18:0:0:18:597:68.28:66.29:1.99:1.00:1.00:1.00:60:44.5:0:0:68:83:25:NM_007127.2(VIL1) c.-11-109A>G,NM_007127.2(VIL1) c.-11-109A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 219288577 . G . . NT END=219288999;NT GT ./. 2 219288899 rs3731866 C T 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=VIL1/NM_007127.2/1;CC=c.76-101C>T;VC=Intron;DM=VIL1/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:20:18:0:0:6,14:189,485:0.00,49.87:0.00,42.80:0.00,7.07:0.00,1.00:0.00,1.00:0.00,0.99:60,60:20.0,45.6:0,0:0,0:44,41:107,109:24,33:-,NM_007127.2(VIL1) c.76-101C>T:-,0.22:-,NOT_FOUND 2 219289075 . G . . NT END=219290337;NT GT ./. 2 219290535 . G . . NT END=219292687;NT GT ./. 2 219290676 rs3888879 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=VIL1/NM_007127.2/1;CC=c.347+142C>T;VC=Intron;DM=VIL1/Gelsolin;DM=VIL1/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:C,T:13:0:0:0:8,5:134,110:0.00,9.70:0.00,0.00:0.00,9.70:0.00,0.91:0.00,0.00:0.00,0.91:60,60:60.6,119.8:0,0:0,0:65,97:74,54:24,34:-,NM_007127.2(VIL1) c.347+142C>T:-,0.22:-,NOT_FOUND 2 219292797 . G . . NT END=219292949;NT GT ./. 2 219293061 . G . . NT END=219294007;NT GT ./. 2 219294211 . G . . NT END=219294319;NT GT ./. 2 219294258 rs6720403 A C 241 nt VT=SNV;PN=G;NN=A;SST=Single;DP=157;DB;DBA=NA;PAF=NA;Gene=VIL1/NM_007127.2/1;CC=c.770+48A>C;VC=Intron;DM=VIL1/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:157:78:0:0:83,74:2636,2531:0.00,241.25:0.00,105.57:0.00,135.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,41.2:0,0:0,0:82,83:69,67:38,43:-,NM_007127.2(VIL1) c.770+48A>C:-,0.28:-,0.354759 2 219294399 . G . . NT END=219294571;NT GT ./. 2 219294671 . G . . NT END=219295447;NT GT ./. 2 219294684 . C G 10 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;Gene=VIL1/NM_007127.2/1;CC=c.948+14C>G;VC=Intron;DM=VIL1/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,C,G:39:24:0:0:1,31,7:12,943,146:-0.02,0.00,10.15:-0.26,0.00,-1.92:0.23,0.00,12.07:0.00,0.00,0.94:0.00,0.00,0.97:0.00,0.00,0.93:60,60,60:103.0,16.0,63.1:0,0,0:0,0,0:142,119,42:-28,22,94:0,16,17:-,NM_007127.2(VIL1) c.948+14C>G:-,NOT_FOUND:-,NOT_FOUND 2 219295249 rs3821031 C T 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=VIL1/NM_007127.2/1;CC=c.949-199C>T;VC=Intron;DM=VIL1/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:17:17:0:0:5,12:178,343:0.00,35.50:0.00,35.50:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.2,38.6:0,0:0,0:43,44:108,106:30,8:-,NM_007127.2(VIL1) c.949-199C>T:-,0.28:-,NOT_FOUND 2 219295602 . G . . NT END=219296579;NT GT ./. 2 219295835 rs4674307 G A 8 end,nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=VIL1/NM_007127.2/1;CC=c.1102+234G>A;VC=Intron;DM=VIL1/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:11:0:0:0:3,8:94,241:8.04,0.00:0.00,0.00:8.04,0.00:0.60,0.00:0.00,0.00:0.60,0.00:60,60:31.3,1.2:0,0:0,0:143,105:8,45:2,40:NM_007127.2(VIL1) c.1102+234G>A,-:0.52,-:NOT_FOUND,- 2 219296545 rs17572485 G A 100 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.001;Gene=VIL1/NM_007127.2/1;CC=c.1103-35G>A;VC=Intron;DM=VIL1/Gelsolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:51:0:0:32,21:999,678:99.60,0.00:77.41,0.00:22.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,16.0:0,0:0,0:37,33:112,118:27,23:NM_007127.2(VIL1) c.1103-35G>A,-:0.28,-:0.355759,- 2 219296681 . G . . NT END=219296768;NT GT ./. 2 219296907 . G . . NT END=219297515;NT GT ./. 2 219297675 . G . . NT END=219299248;NT GT ./. 2 219297918 rs10932781 G T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=VIL1/NM_007127.2/1;CC=c.1500+244G>T;VC=Intron;DM=VIL1/VHP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:G,T:7:0:0:0:4,3:117,97:0.00,9.06:0.00,0.00:0.00,9.06:0.00,0.69:0.00,0.00:0.00,0.69:60,60:7.8,32.3:0,0:0,0:138,114:12,36:9,5:-,NM_007127.2(VIL1) c.1500+244G>T:-,0.5:-,NOT_FOUND 2 219299429 . G . . NT END=219300011;NT GT ./. 2 219299817 rs397840395 ACT A 26 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=497;Gene=VIL1/NM_007127.2/1;CC=c.1681-190_1681-189delCT;VC=Intron;DM=VIL1/Gelsolin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACT,A:16:15:0:9:7,9:196,266:0.00,26.15:0.00,22.92:0.00,3.23:0.00,1.00:0.00,1.00:0.00,0.71:60,60:20.4,8.8:0,0:0,0:64,65:87,86:23,51:-,NM_007127.2(VIL1) c.1681-194_1681-193delCT:-,0.28:-,NOT_FOUND 2 219300158 . G . . NT END=219301204;NT GT ./. 2 219301350 . G . . NT END=219301846;NT GT ./. 2 219302036 . G . . NT END=219303380;NT GT ./. 2 219303450 . G . . NT END=219305444;NT GT ./. 2 219305404 rs2305833 G C 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=NA;Gene=VIL1/NM_007127.2/1;CC=c.2230-41G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:63:58:0:0:24,39:801,1297:73.37,0.00:52.40,0.00:20.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,6.9:0,0:0,0:63,49:75,97:34,23:NM_007127.2(VIL1) c.2230-41G>C,-:0.52,-:0.434876,- 2 219305586 . G . . NT END=219313945;NT GT ./. 2 219313728 rs11320086 GA G 17 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=126;Gene=VIL1/NM_007127.2/1;CC=c.2371-205delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:5:5:142:16.58:16.58:0.00:1.00:1.00:0.00:60:57.4:0:0:23:94:20:NM_007127.2(VIL1) c.2371-217delA,NM_007127.2(VIL1) c.2371-217delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 219314060 . G . . NT END=219319579;NT GT ./. 2 219319657 rs6436058 A G 405 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=0.788;Gene=USP37/NM_020935.2/1;CC=c.2936T>C;ProtCh=p.L979S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:111:79:0:0:110,1:3528,6:404.76,0.03:215.17,0.00:189.59,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,159.0:0,0:0,0:65,59:84,92:34,0:NM_020935.2(USP37) c.=,NM_020935.2(USP37) c.=:0.98,0.98:0.989466,0.989466 2 219319741 . C . . NT END=219320302;NT GT ./. 2 219319885 rs7601872 C G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=USP37/NM_020935.2/1;CC=c.2853-145G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:21:0:0:0:14,7:462,222:0.00,19.73:0.00,0.00:0.00,19.73:0.00,0.97:0.00,0.00:0.00,0.97:60,60:5.1,38.6:0,0:0,0:112,103:39,47:31,38:-,NM_020935.2(USP37) c.2853-145G>C:-,0.24:-,NOT_FOUND 2 219320207 rs3932856 C A 68 nt VT=SNV;PN=A;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;PC=0.003;Gene=USP37/NM_020935.2/1;CC=c.2852+96G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:49:48:0:0:22,27:722,874:68.07,0.00:63.05,0.00:5.01,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:42.3,15.7:0,0:0,0:54,43:90,101:25,34:NM_020935.2(USP37) c.2852+96G>T,-:0.65,-:NOT_FOUND,- 2 219320233 rs569324795 GA G 90 sb;idl,rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;Gene=USP37/NM_020935.2/1;CC=c.2852+69delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:42:56:2:46:12,2,28:303,65,1364:0.00,4.36,90.35:0.00,4.38,90.24:0.00,-0.02,0.11:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:39.1,107.0,41.6:0,0,15:0,0,0:74,13,52:76,137,91:50,5,28:-,NM_020935.2(USP37) c.2852+69delT:-,NOT_FOUND:-,NOT_FOUND 2 219320442 . C . . NT END=219321814;NT GT ./. 2 219321692 rs5838699 CA C 11 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=733;PC=0.003;Gene=USP37/NM_020935.2/1;CC=c.2713+122delT;VC=Intron;DM=USP37/UCH;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:CA,C:12:12:0:4:8,4:263,122:0.00,10.79:0.00,10.79:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:3.1,0.0:0,0:0,0:30,23:121,127:23,16:-,NM_020935.2(USP37) c.2713+122delT:-,NOT_FOUND:-,NOT_FOUND 2 219321885 . C . . NT END=219324512;NT GT ./. 2 219324423 rs199821589 AGTG A 30 nt VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=226;PC=0.001;Gene=USP37/NM_020935.2/1;CC=c.2643+87_2643+89delCAC;VC=Intron;DM=USP37/UCH;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTG,A:25:25:0:11:15,10:466,324:0.00,29.87:0.00,29.87:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.6,10.1:0,0:0,0:78,45:72,105:41,22:-,NM_020935.2(USP37) c.2643+87_2643+89delCAC:-,0.02:-,NOT_FOUND 2 219324629 . C . . NT END=219328028;NT GT ./. 2 219327898 rs574651819 AACACACACACACACACACAC A 20 idl,nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=18;PC=0.018;Gene=USP37/NM_020935.2/1;CC=c.2527+111_2527+130delGTGTGTGTGTGTGTGTGTGT;VC=Intron;DM=USP37/UCH;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:AACACACACACACACACACAC,A:9:11:0:8:3,6:102,265:0.00,20.26:0.00,20.26:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:2.3,34.5:0,2:0,0:105,41:45,110:2,9:-,NM_020935.2(USP37) c.2527+111_2527+130delGTGTGTGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 219328090 . C . . NT END=219330732;NT GT ./. 2 219330900 . C . . NT END=219339352;NT GT ./. 2 219339283 rs549026 T C 66 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.004;Gene=USP37/NM_020935.2/1;CC=c.2299+70A>G;VC=Intron;DM=USP37/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:44:0:0:22,30:705,887:65.60,0.00:50.33,0.00:15.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.2,16.1:0,0:0,0:46,23:102,121:16,15:NM_020935.2(USP37) c.2299+70A>G,-:0.72,-:NOT_FOUND,- 2 219339609 . C . . NT END=219341562;NT GT ./. 2 219341705 . C . . NT END=219344372;NT GT ./. 2 219341717 . GA G 26 rn VT=DEL;SST=Single;DP=78;NP=35;Gene=USP37/NM_020935.2/1;CC=c.1902-14delT;VC=Intron;DM=USP37/UCH;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:78:34:2:11:4,61,2,11:49,1789,53,340:0.82,0.00,2.41,25.88:-0.47,0.00,-0.23,8.91:1.29,0.00,2.65,16.97:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:43.2,22.5,30.0,19.4:0,1,0,0:0,0,0,0:51,101,64,96:99,49,86,51:22,32,6,18:-,NM_020935.2(USP37) c.1902-14delT:-,NOT_FOUND:-,NOT_FOUND 2 219341827 rs72965147 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=USP37/NM_020935.2/1;CC=c.1902-123T>C;VC=Intron;DM=USP37/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:2:0:0:11,9:338,225:0.00,20.74:0.00,1.59:0.00,19.16:0.00,1.00:0.00,0.75:0.00,1.00:60,60:21.2,47.6:0,0:0,0:105,60:46,91:14,22:-,NM_020935.2(USP37) c.1902-123T>C:-,0.18:-,NOT_FOUND 2 219344439 . C . . NT END=219346792;NT GT ./. 2 219346958 . C . . NT END=219350386;NT GT ./. 2 219350358 rs67824157 CAAA C 47 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.999;Gene=USP37/NM_020935.2/1;CC=c.1670+26_1670+28delTTT;VC=Intron;DM=USP37/UCH;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:CAAA,I,C:36:46:9:25:13,8,15:395,297,787:0.00,23.07,47.04:0.00,23.07,45.39:0.00,0.00,1.65:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.55:60,60,60:18.2,31.6,31.3:0,1,9:0,0,0:87,38,42:56,111,108:31,10,15:-,NM_020935.2(USP37) c.1670+26_1670+28delTTT:-,NOT_FOUND:-,NOT_FOUND 2 219350467 . C . . NT END=219353026;NT GT ./. 2 219352898 . CA C 24 idl,rn VT=DEL;SST=Single;DP=14;Gene=USP37/NM_020935.2/1;CC=c.1590+128delT;VC=Intron;DM=USP37/UCH;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:CA,C:10:14:0:11:3,7:90,363:0.00,23.63:0.00,23.63:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:59.7,12.0:0,4:0,0:102,31:33,120:17,20:-,NM_020935.2(USP37) c.1590+128delT:-,NOT_FOUND:-,NOT_FOUND 2 219353145 . C . . NT END=219360482;NT GT ./. 2 219353195 rs10932782 C T 66 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=USP37/NM_020935.2/1;CC=c.1473-51G>A;VC=Intron;DM=USP37/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:10:0:0:15,23:472,663:0.00,66.07:0.00,8.72:0.00,57.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,31.3:0,0:0,0:129,115:22,35:20,21:-,NM_020935.2(USP37) c.1473-51G>A:-,0.72:-,0.65562 2 219360674 . C . . NT END=219362456;NT GT ./. 2 219362581 . C . . NT END=219362748;NT GT ./. 2 219362881 . C . . NT END=219374701;NT GT ./. 2 219374864 . C . . NT END=219394678;NT GT ./. 2 219375018 rs514356 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=USP37/NM_020935.2/1;CC=c.864-155G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:10,10:248,306:0.00,29.38:0.00,0.00:0.00,29.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:22.3,35.2:0,0:0,0:115,80:36,70:26,27:-,NM_020935.2(USP37) c.864-155G>A:-,0.72:-,NOT_FOUND 2 219394764 . C . . NT END=219399331;NT GT ./. 2 219399430 . C . . NT END=219410943;NT GT ./. 2 219411022 . C . . NT END=219411641;NT GT ./. 2 219411815 . C . . NT END=219414531;NT GT ./. 2 219412134 rs60295941 T TTTGTTG 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=USP37/NM_020935.2/1;CC=c.430-321_430-320insCAACAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TTTGTTG:4:0:3:0:1,3:32,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,0.0:0,0:0,0:133,94:18,57:0,7:-,NM_020935.2(USP37) c.430-321_430-320insCAACAA:-,NOT_FOUND:-,NOT_FOUND 2 219414633 . C . . NT END=219418275;NT GT ./. 2 219418448 . C . . NT END=219423220;NT GT ./. 2 219423377 . A . . NT END=219433677;NT GT ./. 2 219423520 rs4674314 T C 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=USP37/NM_020935.2/1;CC=c.-24-120A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:C,T:16:0:0:0:11,5:385,165:39.43,0.00:0.00,0.00:39.43,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.6,9.0:0,0:0,0:101,116:50,35:35,20:NM_020935.2(USP37) c.-24-120A>G,-:0.24,-:NOT_FOUND,- 2 219433357 rs524902 A C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=RQCD1/NM_001271635.1/0;CC=c.-321A>C;VC=5UTR;Gene=RQCD1/NM_001271634.1/1;CC=c.-321A>C;VC=5UTR;Gene=RQCD1/NM_005444.2/0;CC=c.-321A>C;VC=5UTR;Gene=RQCD1/NR_073390.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,C:4:3:0:0:1,3:33,97:0.00,10.15:0.00,6.70:0.00,3.45:0.00,0.85:0.00,0.99:0.00,0.83:60,60:0.0,55.0:0,0:0,0:18,124:133,25:0,19:-,NM_005444.1(RQCD1) c.1-u321A>C:-,0.52:-,NOT_FOUND 2 219433597 rs526897 G A 147 nt VT=SNV;PN=T;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=NA;Gene=RQCD1/NM_001271635.1/0;CC=c.-81G>A;VC=5UTR;Gene=RQCD1/NM_001271634.1/1;CC=c.-81G>A;VC=5UTR;Gene=RQCD1/NM_005444.2/0;CC=c.-81G>A;VC=5UTR;Gene=RQCD1/NR_073390.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:82:0:0:50,44:1512,1457:146.74,0.00:106.11,0.00:40.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,8.0:0,0:0,0:40,46:106,96:26,34:NM_005444.1(RQCD1) c.1-u81G>A,-:0.72,-:0.642212,- 2 219433702 . G . . NT END=219437339;NT GT ./. 2 219433888 rs689116 C A 35 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=RQCD1/NM_001271635.1/0;CC=c.24+187C>A;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.24+187C>A;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.24+187C>A;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:A,C:17:0:0:0:11,6:342,167:34.63,0.00:0.00,0.00:34.63,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.5,28.0:0,0:0,0:100,77:50,72:17,11:NM_005444.1(RQCD1) c.24+187C>A,-:0.52,-:NOT_FOUND,- 2 219437432 . G . . NT END=219445283;NT GT ./. 2 219437476 rs522377 T C 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=RQCD1/NM_001271635.1/0;CC=c.24+3775T>C;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.24+3775T>C;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.24+3775T>C;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:17:0:0:18,15:571,464:55.81,0.00:18.92,0.00:36.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,13.9:0,0:0,0:121,103:21,48:15,28:NM_005444.1(RQCD1) c.24+3775T>C,-:0.52,-:NOT_FOUND,- 2 219437596 rs523937 G C 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.030;Gene=RQCD1/NM_001271635.1/0;CC=c.24+3895G>C;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.24+3895G>C;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.24+3895G>C;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,G:11:0:0:0:7,4:235,131:23.71,0.00:0.00,0.00:23.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.1,0.0:0,0:0,0:45,39:106,111:16,20:NM_005444.1(RQCD1) c.24+3895G>C,-:0.72,-:NOT_FOUND,- 2 219445165 rs589967 T C 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=RQCD1/NM_001271635.1/0;CC=c.25-119T>C;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.25-119T>C;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.25-119T>C;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:15:15:0:0:10,5:350,133:35.64,0.00:35.64,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.3,2.4:0,0:0,0:27,34:124,116:14,16:NM_005444.1(RQCD1) c.25-119T>C,-:0.65,-:NOT_FOUND,- 2 219445464 . G . . NT END=219447693;NT GT ./. 2 219447810 . G . . NT END=219449334;NT GT ./. 2 219447912 rs2952825 A G 23 idl,nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1008;Gene=RQCD1/NM_001271635.1/0;CC=c.320+103A>G;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.320+103A>G;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.320+103A>G;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:2:0:0:7:195:22.77:4.08:18.69:1.00:1.00:1.00:70:85.3:4:0:95:55:15:NM_005444.1(RQCD1) c.320+103A>G,NM_005444.1(RQCD1) c.320+103A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 219447916 . TTGTG T 9 rn VT=DEL;SST=Single;DP=7;Gene=RQCD1/NM_001271635.1/0;CC=c.320+145_320+148delGTGT;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.320+145_320+148delGTGT;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.320+145_320+148delGTGT;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:G,TTGTG,T:6:2:0:4:1,2,3:11,58,125:0.63,0.00,8.94:0.00,0.00,0.00:0.63,0.00,8.94:0.00,0.00,0.69:0.00,0.00,0.73:0.00,0.00,0.69:3,70,60:56.0,135.0,90.3:0,0,1:0,0,0:28,106,88:123,40,63:0,7,9:-,NM_005444.1(RQCD1) c.320+108_320+111delTGTG:-,NOT_FOUND:-,NOT_FOUND 2 219449445 . G . . NT END=219452120;NT GT ./. 2 219451914 rs832822 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=RQCD1/NM_001271635.1/0;CC=c.431-395A>G;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.431-114A>G;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.431-395A>G;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:108:13.05:13.05:0.00:1.00:1.00:0.00:60:27.4:0:0:38:112:30:NM_005444.1(RQCD1) c.431-395A>G,NM_005444.1(RQCD1) c.431-395A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 219452124 . g . . NT END=219452308;NT GT ./. 2 219452150 rs61564091 CT C 17 idl,rn VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=18;Gene=RQCD1/NM_001271635.1/0;CC=c.431-148delT;VC=Intron;Gene=RQCD1/NM_001271634.1/1;CC=c.526+38delT;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.431-148delT;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:CT,I,C:63:51:7:7:49,7,7:1663,212,229:0.00,15.36,17.06:0.00,4.50,9.53:0.00,10.86,7.52:0.00,0.00,0.90:0.00,0.00,0.99:0.00,0.00,0.96:60,60,60:12.2,3.0,4.7:0,0,0:0,0,0:60,61,42:85,89,109:30,40,9:-,NM_005444.1(RQCD1) c.431-158delT:-,NOT_FOUND:-,NOT_FOUND 2 219452419 . G . . NT END=219457026;NT GT ./. 2 219457126 . G . . NT END=219457338;NT GT ./. 2 219457431 . G . . NT END=219458250;NT GT ./. 2 219458579 . T . . NT END=219458830;NT GT ./. 2 219458656 rs538483 T C 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.042;Gene=RQCD1/NM_001271634.1/1;CC=c.828-175T>C;VC=Intron;Gene=RQCD1/NM_005444.2/0;CC=c.732-175T>C;VC=Intron;Gene=RQCD1/NR_073390.1/0;VC=NonCoding;DM=RQCD1/Rcd1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:13:0:0:13,11:374,347:36.39,0.00:14.12,0.00:22.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,21.3:0,0:0,0:113,37:37,111:32,34:NM_005444.1(RQCD1) c.732-175T>C,-:0.65,-:NOT_FOUND,- 2 219459000 . T . . NT END=219480462;NT GT ./. 2 219469133 rs629905 A G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:35.5:1:0:59:89:15:NM_032726.3(PLCD4) c.-339-u3355A>G,NM_032726.3(PLCD4) c.-339-u3355A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 2 219480485 . G . . NT END=219480626;NT GT ./. 2 219480786 . G . . NT END=219483301;NT GT ./. 2 219480804 rs485765 G C 108 nt VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;Gene=PLCD4/NM_032726.3/1;CC=c.181+19G>C;VC=Intron;DM=PLCD4/PI-PLC-X;DM=PLCD4/C2;DM=PLCD4/PH;DM=PLCD4/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:85:39:0:0:1,38,46:11,1150,1524:-0.09,107.86,0.00:-0.07,34.81,0.00:-0.03,73.05,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:126.0,42.1,10.4:0,0,0:0,0,0:71,91,89:80,57,49:0,22,25:NM_032726.3(PLCD4) c.181+19G>C,-:0.6,-:0.538779,- 2 219483531 . G . . NT END=219486192;NT GT ./. 2 219485936 rs688423 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=PLCD4/NM_032726.3/1;CC=c.411-257C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:4:0:0:5:145:16.83:10.96:5.87:1.00:1.00:1.00:60:44.0:0:0:98:51:38:NM_032726.3(PLCD4) c.411-257C>T,NM_032726.3(PLCD4) c.411-257C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 2 219486323 . G . . NT END=219487369;NT GT ./. 2 219486627 rs489321 C A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=PLCD4/NM_032726.3/1;CC=c.540+305C>A;VC=Intron;DM=PLCD4/EF-hand_10;DM=PLCD4/EF-hand_10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:A,C:6:0:0:0:4,2:103,42:10.56,0.00:0.00,0.00:10.56,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:34.5,108.0:0,0:0,0:97,76:52,74:40,33:NM_032726.3(PLCD4) c.540+305C>A,-:0.64,-:NOT_FOUND,- 2 219487299 rs1850169 A T 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PLCD4/NM_032726.3/1;CC=c.541-71A>T;VC=Intron;DM=PLCD4/EF-hand_10;DM=PLCD4/EF-hand_10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:24:0:0:15,9:488,274:0.00,24.80:0.00,23.22:0.00,1.58:0.00,1.00:0.00,1.00:0.00,0.58:60,60:4.5,40.1:0,0:0,0:51,21:100,129:40,16:-,NM_032726.3(PLCD4) c.541-71A>T:-,0.51:-,NOT_FOUND 2 219487602 . G . . NT END=219492751;NT GT ./. 2 219492924 rs612874 T C 84 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=0.901;Gene=PLCD4/NM_032726.3/1;CC=c.945T>C;ProtCh=p.C315=;VC=Silent;DM=PLCD4/PI-PLC-X;DM=PLCD4/PI-PLC-X GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:60:37:0:0:1,27,32:13,886,1079:0.05,83.80,0.00:0.21,42.05,0.00:-0.16,41.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.0,35.4,2.7:0,0,0:0,0,0:64,99,69:86,43,78:0,31,33:NM_032726.3(PLCD4) c.945T>C (p.(=)),-:0.52,-:0.436213,- 2 219492954 . G . . NT END=219494241;NT GT ./. 2 219494387 . G . . NT END=219495372;NT GT ./. 2 219495526 . G . . NT END=219496858;NT GT ./. 2 219497036 . G . . NT END=219498327;NT GT ./. 2 219498485 . G . . NT END=219498827;NT GT ./. 2 219498759 rs7574429 T G 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=PLCD4/NM_032726.3/1;CC=c.1607-69T>G;VC=Intron;DM=PLCD4/PI-PLC-Y;DM=PLCD4/PI-PLC-Y GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:39:34:0:0:22,17:705,566:69.37,0.00:47.30,0.00:22.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,1.2:0,0:0,0:49,42:101,108:39,27:NM_032726.3(PLCD4) c.1607-69T>G,-:0.75,-:NOT_FOUND,- 2 219498954 . C . . NT END=219499180;NT GT ./. 2 219499354 . G . . NT END=219500518;NT GT ./. 2 219500655 . G . . NT END=219500965;NT GT ./. 2 219501133 rs2278530 G A 199 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=NA;Gene=PLCD4/NM_032726.3/1;CC=c.2182+18G>A;VC=Intron;DM=PLCD4/C2;DM=PLCD4/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:116:82:0:0:66,1,49:2015,9,1612:198.78,-0.12,0.00:117.12,-0.09,0.00:81.67,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.3,20.0,5.1:0,0,0:0,0,0:67,22,65:75,129,86:34,0,32:NM_032726.3(PLCD4) c.2182+18G>A,-:0.6,-:0.556303,- 2 219501301 . G . . NT END=219503061;NT GT ./. 2 219501328 rs1055816 G A 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=PLCD4/NM_032726.3/1;CC=c.*28G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:17:0:0:24,23:769,740:74.22,0.00:17.07,0.00:57.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,15.8:0,0:0,0:96,108:50,25:31,28:NM_032726.3(PLCD4) c.*28G>A,-:0.53,-:0.438774,- 2 219503532 . C . . NT END=219505386;NT GT ./. 2 219505493 . C . . NT END=219506750;NT GT ./. 2 219508372 rs3770213 A T 233 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=177;DB;DBA=NA;PAF=NA;Gene=ZNF142/NM_001105537.2/1;CC=c.2867T>A;ProtCh=p.L956H;VC=Missense;Gene=ZNF142/NR_073600.1/0;VC=NonCoding;Gene=ZNF142/NR_073599.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:177:94:0:0:99,78:3319,2487:0.00,233.09:0.00,98.33:0.00,134.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,45.7:0,0:0,0:77,72:69,65:29,42:-,NM_001105537.1(ZNF142) c.2867T>A (p.Leu956His):-,0.21:-,0.285595 2 219508988 rs3770214 T C 257 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=157;DB;DBA=NA;PAF=NA;Gene=ZNF142/NM_001105537.2/1;CC=c.2251A>G;ProtCh=p.S751G;VC=Missense;Gene=ZNF142/NR_073600.1/0;VC=NonCoding;Gene=ZNF142/NR_073599.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:157:105:0:0:84,1,72:2642,10,2357:257.50,-0.13,0.00:118.83,-0.12,0.00:138.67,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,21.0,10.4:0,0,0:0,0,0:95,39,82:52,112,64:34,0,35:NM_001105537.1(ZNF142) c.2251A>G (p.Ser751Gly),-:0.75,-:0.676183,- 2 219509618 rs2230115 C A 347 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=233;DB;DBA=NA;PAF=NA;PC=0.245;Gene=ZNF142/NM_001105537.2/1;CC=c.1621G>T;ProtCh=p.A541S;VC=Missense;Gene=ZNF142/NR_073600.1/0;VC=NonCoding;Gene=ZNF142/NR_073599.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:233:150:0:0:119,112,1,1:3597,3681,9,31:346.88,0.00,-0.16,1.01:156.86,0.00,-0.07,1.11:190.02,0.00,-0.09,-0.09:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:37.3,6.9,120.0,31.0:0,0,0,0:0,0,0,0:69,74,89,107:80,73,60,44:29,40,0,0:NM_001105537.1(ZNF142) c.1621G>T (p.Ala541Ser),-:0.53,-:0.438928,- 2 219509788 . C . . NT END=219510893;NT GT ./. 2 219510768 rs4674320 A G 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=ZNF142/NM_001105537.2/1;CC=c.1451+126T>C;VC=Intron;Gene=ZNF142/NR_073600.1/0;VC=NonCoding;Gene=ZNF142/NR_073599.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:24:0:0:13,11:413,311:0.00,29.07:0.00,29.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.5,47.4:0,0:0,0:69,54:82,97:20,12:-,NM_001105537.1(ZNF142) c.1451+126T>C:-,0.53:-,NOT_FOUND 2 219511072 . C . . NT END=219513357;NT GT ./. 2 219513782 rs4674322 T C 308 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=NA;Gene=ZNF142/NM_001105537.2/1;CC=c.849A>G;ProtCh=p.P283=;VC=Silent;Gene=ZNF142/NR_073600.1/0;VC=NonCoding;Gene=ZNF142/NR_073599.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:181:118:0:0:103,78:3128,2491:307.73,0.00:184.05,0.00:123.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,6.0:0,0:0,0:67,60:79,88:36,42:NM_001105537.1(ZNF142) c.849A>G (p.(=)),-:0.13,-:0.189228,- 2 219514183 . C . . NT END=219515081;NT GT ./. 2 219515250 . C . . NT END=219516423;NT GT ./. 2 219516546 . C . . NT END=219520872;NT GT ./. 2 219521153 . C . . NT END=219525710;NT GT ./. 2 219525582 rs6722185 A G 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=BCS1L/NM_001079866.1/0;CC=c.-49-80A>G;VC=Intron;Gene=BCS1L/NM_001257342.1/0;CC=c.-49-80A>G;VC=Intron;Gene=BCS1L/NM_001257343.1/0;CC=c.-49-80A>G;VC=Intron;Gene=BCS1L/NM_001257344.1/0;CC=c.-49-80A>G;VC=Intron;Gene=BCS1L/NM_004328.4/1;CC=c.-49-80A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:17:0:0:17:557:63.78:63.78:0.00:1.00:1.00:0.00:60:37.1:0:0:43:106:25:NM_004328.4(BCS1L) c.-49-80A>G,NM_004328.4(BCS1L) c.-49-80A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 219526031 . G . . NT END=219526128;NT GT ./. 2 219526269 . G . . NT END=219526481;NT GT ./. 2 219526677 . G . . NT END=219526919;NT GT ./. 2 219526984 . G . . NT END=219527232;NT GT ./. 2 219527005 rs2303561 C T 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=BCS1L/NM_001079866.1/0;CC=c.719+22C>T;VC=Intron;Gene=BCS1L/NM_001257342.1/0;CC=c.719+22C>T;VC=Intron;Gene=BCS1L/NM_001257343.1/0;CC=c.719+22C>T;VC=Intron;Gene=BCS1L/NM_001257344.1/0;CC=c.719+22C>T;VC=Intron;Gene=BCS1L/NM_004328.4/1;CC=c.719+22C>T;VC=Intron;DM=BCS1L/AAA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:22:0:0:16,22:535,655:0.00,64.70:0.00,35.39:0.00,29.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,40.9:0,0:0,0:56,82:95,67:37,37:-,NM_004328.4(BCS1L) c.719+22C>T:-,0.47:-,0.562279 2 219527403 . G . . NT END=219527605;NT GT ./. 2 219527724 . G . . NT END=219527856;NT GT ./. 2 219528110 . T . . NT END=219528679;NT GT ./. 2 219529259 . C . . NT END=219529461;NT GT ./. 2 219529348 rs2243911 C T 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=RNF25/NM_022453.2/1;CC=c.802-90G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:32:0:0:34,27:1066,854:0.00,80.08:0.00,44.11:0.00,35.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,37.8:0,0:0,0:71,80:79,71:35,29:-,NM_022453.2(RNF25) c.802-90G>A:-,0.47:-,NOT_FOUND 2 219529597 . C . . NT END=219529877;NT GT ./. 2 219529971 . C . . NT END=219530638;NT GT ./. 2 219530348 rs1968346 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=RNF25/NM_022453.2/1;CC=c.573+291G>A;VC=Intron;DM=RNF25/zf-RING_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:5:3:0:0:1,4:34,106:0.00,11.40:0.00,6.56:0.00,4.83:0.00,0.96:0.00,0.99:0.00,0.97:60,60:0.0,68.5:0,0:0,0:10,49:141,101:0,39:-,NM_022453.2(RNF25) c.573+291G>A:-,0.26:-,NOT_FOUND 2 219530783 . C . . NT END=219530881;NT GT ./. 2 219530954 . C . . NT END=219532634;NT GT ./. 2 219532705 . C . . NT END=219532801;NT GT ./. 2 219532870 . C . . NT END=219532961;NT GT ./. 2 219532903 rs2556384 C T 135 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;Gene=RNF25/NM_022453.2/1;CC=c.220-34G>A;VC=Intron;DM=RNF25/RWD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:49:0:0:33,42:1046,1371:0.00,134.82:0.00,72.95:0.00,61.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,67.4:0,0:0,0:99,82:51,68:28,28:-,NM_022453.2(RNF25) c.220-34G>A:-,0.47:-,0.562433 2 219532905 rs2556385 G A 121 nt VT=SNV;PN=G;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=RNF25/NM_022453.2/1;CC=c.220-36C>T;VC=Intron;DM=RNF25/RWD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:72:47:0:0:39,1,32:1238,13,1035:121.13,0.06,0.00:67.76,-0.08,0.00:53.37,0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:68.0,62.0,9.3:0,0,0:0,0,0:84,67,93:61,84,58:30,0,42:NM_022453.2(RNF25) c.220-36C>T,-:0.47,-:0.562433,- 2 219533065 . C . . NT END=219533327;NT GT ./. 2 219533403 . C . . NT END=219536652;NT GT ./. 2 219536694 . A . . NT END=219537552;NT GT ./. 2 219537637 . G . . NT END=219538347;NT GT ./. 2 219538489 . G . . NT END=219538601;NT GT ./. 2 219538680 . G . . NT END=219540065;NT GT ./. 2 219538799 rs7604319 A C 29 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.002;Gene=STK36/NM_001243313.1/0;CC=c.303+120A>C;VC=Intron;Gene=STK36/NM_015690.4/1;CC=c.303+120A>C;VC=Intron;DM=STK36/Pkinase;DM=STK36/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:25:0:0:0:15,10:510,312:0.00,28.66:0.00,0.00:0.00,28.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.2,31.2:0,0:0,0:108,80:41,69:29,25:-,NM_015690.4(STK36) c.303+120A>C:-,0.21:-,NOT_FOUND 2 219540197 . G . . NT END=219540751;NT GT ./. 2 219540243 rs58481209 CT C 24 sb;idl,rn VT=DEL;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.273;Gene=STK36/NM_001243313.1/0;CC=c.434+68delT;VC=Intron;Gene=STK36/NM_015690.4/1;CC=c.434+68delT;VC=Intron;DM=STK36/Pkinase;DM=STK36/Pkinase;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:CT,T,I,C:59:19:5:14:42,4,3,10:1292,133,137,386:0.00,9.22,4.89,23.62:0.00,-0.35,-0.26,-0.92:0.00,9.56,5.15,24.54:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.91:0.00,0.00,0.00,1.00:60,60,60,60:10.9,47.2,14.3,27.6:0,3,2,3:0,0,0,0:121,42,56,115:21,108,93,36:14,5,45,8:-,NM_015690.4(STK36) c.434+48delT:-,NOT_FOUND:-,NOT_FOUND 2 219541002 . G . . NT END=219543890;NT GT ./. 2 219541056 rs2556388 T C 85 nt VT=SNV;PN=A;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=STK36/NM_001243313.1/0;CC=c.684+55T>C;VC=Intron;Gene=STK36/NM_015690.4/1;CC=c.684+55T>C;VC=Intron;DM=STK36/Pkinase;DM=STK36/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:54:21:0:0:1,28,25:11,873,819:0.01,84.68,0.00:-0.06,28.93,0.00:0.07,55.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:71.0,34.1,9.4:0,0,0:0,0,0:27,113,119:122,38,27:0,25,30:NM_015690.4(STK36) c.684+55T>C,-:0.46,-:NOT_FOUND,- 2 219543985 . G . . NT END=219544282;NT GT ./. 2 219544453 . G . . NT END=219544615;NT GT ./. 2 219544804 . G . . NT END=219545325;NT GT ./. 2 219545309 rs2303565 T C 122 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=STK36/NM_001243313.1/0;CC=c.1137-17T>C;VC=Intron;Gene=STK36/NM_015690.4/1;CC=c.1137-17T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:66:0:0:38,43:1282,1382:122.05,0.00:79.70,0.00:42.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,11.8:0,0:0,0:43,45:89,98:26,20:NM_015690.4(STK36) c.1137-17T>C,-:0.46,-:0.570308,- 2 219545426 . G . . NT END=219549807;NT GT ./. 2 219549952 . G . . NT END=219553419;NT GT ./. 2 219553600 . G . . NT END=219554581;NT GT ./. 2 219554680 . G . . NT END=219555172;NT GT ./. 2 219555262 rs1344642 G A 69 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.310;Gene=STK36/NM_001243313.1/0;CC=c.1748G>A;ProtCh=p.R583Q;VC=Missense;Gene=STK36/NM_015690.4/1;CC=c.1748G>A;ProtCh=p.R583Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:28:0:0:21,23:724,749:69.19,0.00:24.38,0.00:44.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,5.0:0,0:0,0:79,76:65,71:26,29:NM_015690.4(STK36) c.1748G>A (p.Arg583Gln),-:0.42,-:0.505843,- 2 219555279 . G . . NT END=219556865;NT GT ./. 2 219557017 . G . . NT END=219557305;NT GT ./. 2 219557434 . G . . NT END=219557962;NT GT ./. 2 219557738 rs2303566 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=STK36/NM_001243313.1/0;CC=c.2044-225G>A;VC=Intron;Gene=STK36/NM_015690.4/1;CC=c.2044-225G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:9:4:0:0:5,4:150,126:14.67,0.00:2.57,0.00:12.11,0.00:0.96,0.00:0.96,0.00:0.98,0.00:60,60:32.2,7.8:0,0:0,0:114,50:36,100:22,33:NM_015690.4(STK36) c.2044-225G>A,-:0.46,-:NOT_FOUND,- 2 219558068 . G . . NT END=219558445;NT GT ./. 2 219558193 rs55996799 C G 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=STK36/NM_001243313.1/0;CC=c.2148+126C>G;VC=Intron;Gene=STK36/NM_015690.4/1;CC=c.2148+126C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,G:18:6:0:0:13,5:408,175:0.00,15.27:0.00,6.28:0.00,8.99:0.00,0.87:0.00,0.84:0.00,0.96:60,60:12.6,35.0:0,0:0,0:63,80:88,71:27,53:-,NM_015690.4(STK36) c.2148+126C>G:-,0.21:-,NOT_FOUND 2 219558545 . G . . NT END=219558617;NT GT ./. 2 219558707 . G . . NT END=219558986;NT GT ./. 2 219559051 . G . . NT END=219559247;NT GT ./. 2 219559359 . G . . NT END=219561249;NT GT ./. 2 219561325 . G . . NT END=219561761;NT GT ./. 2 219561937 . G . . NT END=219562185;NT GT ./. 2 219562334 . G . . NT END=219562576;NT GT ./. 2 219562675 rs1863704 G A 177 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=NA;Gene=STK36/NM_001243313.1/0;CC=c.2945G>A;ProtCh=p.G982D;VC=Missense;Gene=STK36/NM_015690.4/1;CC=c.3008G>A;ProtCh=p.G1003D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:121:89:0:0:57,64:1856,1980:176.51,0.00:85.93,0.00:90.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,12.7:0,0:0,0:65,63:78,82:24,38:NM_015690.4(STK36) c.3008G>A (p.Gly1003Asp),-:0.21,-:0.278333,- 2 219562725 . G . . NT END=219563324;NT GT ./. 2 219564072 . G . . NT END=219566588;NT GT ./. 2 219566733 . T . . NT END=219602399;NT GT ./. 2 219602499 rs3731877 G C 224 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=184;DB;DBA=NA;PAF=NA;PC=0.985;Gene=TTLL4/NM_014640.4/1;CC=c.100G>C;ProtCh=p.E34Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:184:127:0:0:72,111,1:2430,3715,9:224.09,0.00,-0.20:118.74,0.00,-0.09:105.35,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.6,4.0,146.0:0,0,0:0,0,0:74,74,28:74,76,123:35,34,0:NM_014640.4(TTLL4) c.100G>C (p.Glu34Gln),-:0.42,-:0.512071,- 2 219602819 rs3731876 G A 227 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=138;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.420G>A;ProtCh=p.P140=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:138:82:0:0:74,64:2326,1973:226.55,0.00:108.88,0.00:117.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.6,11.4:0,0:0,0:91,72:54,77:38,38:NM_014640.4(TTLL4) c.420G>A (p.(=)),-:0.47,-:0.589805,- 2 219603887 . G . . NT END=219604780;NT GT ./. 2 219604891 . G . . NT END=219605243;NT GT ./. 2 219605118 rs7562426 G A 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.1598-126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:21:0:0:15,17:485,523:46.03,0.00:28.54,0.00:17.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.8,7.3:0,0:0,0:85,56:66,93:31,28:NM_014640.4(TTLL4) c.1598-126G>A,-:0.42,-:NOT_FOUND,- 2 219605308 . G . . NT END=219609831;NT GT ./. 2 219609776 rs2272191 G A 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TTLL4/NM_014640.4/1;CC=c.1662-56G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:43:0:0:24,28:751,873:70.93,0.00:52.05,0.00:18.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,11.0:0,0:0,0:61,53:83,95:22,21:NM_014640.4(TTLL4) c.1662-56G>A,-:0.42,-:NOT_FOUND,- 2 219609957 . G . . NT END=219610413;NT GT ./. 2 219609995 rs2272190 G C 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TTLL4/NM_014640.4/1;CC=c.1786+39G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:48:20:0:0:22,26:674,818:63.51,0.00:19.45,0.00:44.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,3.9:0,0:0,0:106,108:45,39:31,21:NM_014640.4(TTLL4) c.1786+39G>C,-:0.42,-:0.517377,- 2 219610322 rs2272189 G A 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.1787-92G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:26:0:0:14,14:433,443:41.55,0.00:34.70,0.00:6.85,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:60.6,42.4:0,0:0,0:89,38:61,105:43,26:NM_014640.4(TTLL4) c.1787-92G>A,-:0.43,-:NOT_FOUND,- 2 219610433 rs586194 A G 104 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=NA;PC=0.718;Gene=TTLL4/NM_014640.4/1;CC=c.1806A>G;ProtCh=p.E602=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:55:0:0:44,36:1394,1104:0.00,103.57:0.00,41.77:0.00,61.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,65.8:0,0:0,0:40,59:99,85:21,22:-,NM_014640.4(TTLL4) c.1806A>G (p.(=)):-,0.48:-,0.601107 2 219610525 . G . . NT END=219610877;NT GT ./. 2 219610955 . G . . NT END=219611725;NT GT ./. 2 219611918 . G . . NT END=219612012;NT GT ./. 2 219612096 . G . . NT END=219612319;NT GT ./. 2 219612282 rs2272188 A G 128 nt VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.2250-38A>G;VC=Intron;DM=TTLL4/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:98:75:0:0:52,45,1:1676,1354,12:0.00,127.58,-0.07:0.00,83.85,0.02:0.00,43.73,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.9,37.9,102.0:0,0,0:0,0,0:72,55,109:69,84,42:41,32,0:-,NM_014640.4(TTLL4) c.2250-38A>G:-,0.42:-,0.521529 2 219612449 . G . . NT END=219612827;NT GT ./. 2 219612951 . G . . NT END=219613558;NT GT ./. 2 219613249 rs6722216 G A 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.2501+299G>A;VC=Intron;DM=TTLL4/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,G:8:2:0:0:5,3:158,107:15.89,0.00:7.45,0.00:8.44,0.00:0.97,0.00:0.88,0.00:1.00,0.00:60,60:38.6,0.0:0,0:0,0:110,111:38,40:20,5:NM_014640.4(TTLL4) c.2501+299G>A,-:0.42,-:NOT_FOUND,- 2 219613377 rs570493846 C CA 8 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;PC=0.007;Gene=TTLL4/NM_014640.4/1;CC=c.2502-161_2502-160insA;VC=Intron;DM=TTLL4/TTL;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,CA,D:16:15:3:2:11,3,2:375,100,58:0.00,8.26,4.31:0.00,8.35,4.37:0.00,-0.09,-0.06:0.00,0.54,0.00:0.00,0.91,0.00:0.00,0.46,0.00:60,60,60:29.5,47.7,5.0:0,0,0:0,0,0:48,57,61:86,93,89:33,6,57:-,NM_014640.4(TTLL4) c.2502-182_2502-181insA:-,NOT_FOUND:-,NOT_FOUND 2 219613658 . G . . NT END=219613975;NT GT ./. 2 219614111 . G . . NT END=219614731;NT GT ./. 2 219614190 . C CT 9 idl,rn VT=INS;SST=Single;DP=45;NP=1;PC=0.004;Gene=TTLL4/NM_014640.4/1;CC=c.2735+95_2735+96insT;VC=Intron;DM=TTLL4/TTL;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,G,T,CT,D:43:17:4:5:34,1,1,4,3:1098,12,13,123,154:0.00,-0.04,0.02,8.64,6.19:0.00,0.20,-0.10,-0.40,0.75:0.00,-0.23,0.12,9.04,5.44:0.00,0.00,0.00,0.57,0.00:0.00,0.00,0.00,0.69,0.00:0.00,0.00,0.00,0.90,0.00:60,60,60,60,60:5.9,12.0,25.0,7.8,19.0:0,0,0,0,2:0,0,0,0,0:122,101,112,72,107:21,16,39,78,44:12,0,0,25,17:-,NM_014640.4(TTLL4) c.2735+80_2735+81insT:-,NOT_FOUND:-,NOT_FOUND 2 219614870 . G . . NT END=219616336;NT GT ./. 2 219616419 . T . . NT END=219616426;NT GT ./. 2 219616530 . G . . NT END=219617485;NT GT ./. 2 219616610 rs72027596 C CTTT 11 idl,nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=4;Gene=TTLL4/NM_014640.4/1;CC=c.2976+92_2976+93insTTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T,CTTT:18:1:7:0:12,2,4:343,41,205:0.00,2.54,10.53:0.00,-0.04,-0.09:0.00,2.58,10.62:0.00,0.00,0.70:0.00,0.00,0.46:0.00,0.00,0.96:60,60,60:3.8,90.5,118.0:0,0,3:0,0,0:131,80,101:19,70,50:15,20,27:-,NM_014640.4(TTLL4) c.2976+81_2976+82insTTT:-,NOT_FOUND:-,NOT_FOUND 2 219616627 rs6734613 C CT 9 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=2;PC=0.184;Gene=TTLL4/NM_014640.4/1;CC=c.2976+103_2976+104insT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C,CT,D:18:0:4:1:1,12,4,1:9,374,114,33:0.02,0.00,9.39,2.23:0.00,0.00,0.00,0.00:0.02,0.00,9.39,2.23:0.00,0.00,0.73,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.73,0.00:60,60,60,60:9.0,31.0,105.5,0.0:0,0,0,1:0,0,0,0:126,122,83,137:25,28,67,14:0,26,22,0:-,NM_014640.4(TTLL4) c.2976+98_2976+99insT:-,NOT_FOUND:-,NOT_FOUND 2 219616633 rs59713184 C T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=16;PC=0.017;Gene=TTLL4/NM_014640.4/1;CC=c.2976+104C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,T,I:12:0:2:1:4,6,2:139,175,66:0.00,17.33,5.68:0.00,0.00,0.00:0.00,17.33,5.68:0.00,0.98,0.00:0.00,0.00,0.00:0.00,0.98,0.00:60,60,60:2.2,91.2,23.0:1,0,0:0,0,0:122,82,128:28,68,23:11,27,4:-,NM_014640.4(TTLL4) c.2976+104C>T:-,NOT_FOUND:-,NOT_FOUND 2 219616681 rs6708650 A G 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.004;Gene=TTLL4/NM_014640.4/1;CC=c.2976+152A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,G:11:0:0:0:2,9:62,276:0.00,29.63:0.00,0.00:0.00,29.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.0,72.1:0,0:0,0:38,91:111,40:7,54:-,NM_014640.4(TTLL4) c.2976+152A>G:-,0.35:-,NOT_FOUND 2 219617697 . G . . NT END=219617837;NT GT ./. 2 219617909 . G . . NT END=219618306;NT GT ./. 2 219618237 rs6436073 A C 75 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.3259-70A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:40:0:0:18,24:546,762:0.00,75.21:0.00,61.31:0.00,13.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,33.9:0,0:0,0:53,55:97,95:27,26:-,NM_014640.4(TTLL4) c.3259-70A>C:-,0.44:-,NOT_FOUND 2 219618393 . G . . NT END=219618856;NT GT ./. 2 219618497 rs6757772 T G 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.3344+105T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:22:1:0:0:1,13,8:11,405,246:0.24,40.62,0.00:-0.01,-0.19,0.00:0.25,40.82,0.00:0.00,1.00,0.00:0.00,0.73,0.00:0.00,1.00,0.00:60,60,60:160.0,32.4,5.0:0,0,0:0,0,0:61,91,75:89,58,75:0,41,34:NM_014640.4(TTLL4) c.3344+105T>G,-:0.42,-:NOT_FOUND,- 2 219618708 rs55900247 T C 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=TTLL4/NM_014640.4/1;CC=c.3345-149T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:28:0:0:17,16:542,518:52.35,0.00:45.81,0.00:6.53,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:49.5,6.5:0,0:0,0:49,60:102,88:31,43:NM_014640.4(TTLL4) c.3345-149T>C,-:0.23,-:NOT_FOUND,- 2 219619113 . C . . NT END=219646905;NT GT ./. 2 219647161 . G . . NT END=219674299;NT GT ./. 2 219674491 . G . . NT END=219676944;NT GT ./. 2 219677145 . G . . NT END=219677274;NT GT ./. 2 219677473 . G . . NT END=219677646;NT GT ./. 2 219677820 . G . . NT END=219678743;NT GT ./. 2 219678911 . G . . NT END=219679102;NT GT ./. 2 219679182 . G . . NT END=219679267;NT GT ./. 2 219679481 . G . . NT END=219679633;NT GT ./. 2 219679754 . G . . NT END=219687607;NT GT ./. 2 219687597 rs6436094 A G 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=PRKAG3/NM_017431.2/1;CC=c.*319T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:37:0:0:20,21:682,654:0.00,63.07:0.00,45.53:0.00,17.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,32.8:0,0:0,0:50,42:100,109:23,32:-,NM_017431.2(PRKAG3) c.*319T>C:-,0.45:-,NOT_FOUND 2 219687800 . C . . NT END=219688368;NT GT ./. 2 219688602 . C . . NT END=219688944;NT GT ./. 2 219689092 . C . . NT END=219689261;NT GT ./. 2 219689300 . C . . NT END=219691650;NT GT ./. 2 219691566 rs1467320 A G 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=PRKAG3/NM_017431.2/1;CC=c.1168+85T>C;VC=Intron;DM=PRKAG3/CBS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:23:0:0:24:723:83.68:68.09:15.59:1.00:1.00:1.00:60:34.8:0:0:41:109:35:NM_017431.2(PRKAG3) c.1168+85T>C,NM_017431.2(PRKAG3) c.1168+85T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 2 219691817 . C . . NT END=219691969;NT GT ./. 2 219692097 . C . . NT END=219692297;NT GT ./. 2 219692353 . C . . NT END=219692555;NT GT ./. 2 219692527 rs397695159 G GC 121 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3410;Gene=PRKAG3/NM_017431.2/1;CC=c.820+28dupG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G,GC:34:23:33:0:1,33:30,1073:0.00,121.08:0.00,63.09:0.00,57.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,3.9:0,0:0,0:149,64:2,87:0,28:NM_017431.2(PRKAG3) c.820+28_820+29insG,NM_017431.2(PRKAG3) c.820+28_820+29insG:1,1:0.99992,0.99992 2 219692602 . C . . NT END=219692726;NT GT ./. 2 219692786 . C . . NT END=219693241;NT GT ./. 2 219692790 rs5838710 A AG 148 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2060;PC=0.006;Gene=PRKAG3/NM_017431.2/1;CC=c.716-6dupC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A,AG:42:28:41:0:1,41:24,1304:0.00,147.91:0.00,64.04:0.00,83.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:38.0,6.5:0,0:0,0:145,90:6,58:0,30:NM_017431.2(PRKAG3) c.716-6_716-5insC,NM_017431.2(PRKAG3) c.716-6_716-5insC:1,1:0.996686,0.996686 2 219693324 . C . . NT END=219694700;NT GT ./. 2 219695105 . C . . NT END=219695468;NT GT ./. 2 219695625 . C . . NT END=219696058;NT GT ./. 2 219696014 rs650898 G A 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=PRKAG3/NM_017431.2/1;CC=c.73+45C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:24:0:0:12,13:385,389:36.72,0.00:26.01,0.00:10.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,15.0:0,0:0,0:31,90:113,61:11,43:NM_017431.2(PRKAG3) c.73+45C>T,-:0.95,-:0.937558,- 2 219696099 . C . . NT END=219696460;NT GT ./. 2 219696494 . G . . NT END=219724760;NT GT ./. 2 219706535 rs10197074 C T 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:12:4:0:0:9,3:305,99:0.00,8.40:0.00,-0.31:0.00,8.71:0.00,0.59:0.00,0.69:0.00,0.93:60,60:5.9,45.0:0,0:0,0:104,104:47,47:34,4:-,chr2 g.219706534C>T (intergenic):-,0.24:-,NOT_FOUND 2 219713725 rs59174952 A AGT 6 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=111;NP=14;NP=2;PC=0.101;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,C,AGT:4:4:4:0:1,1,2:27,14,123:0.00,1.03,6.32:0.00,-0.08,6.32:0.00,1.11,0.00:0.00,0.00,0.42:0.00,0.00,0.81:0.00,0.00,0.63:60,60,60:0.0,110.0,16.5:0,0,2:0,0,0:2,117,51:149,34,100:0,0,20:-,chr2 g.219713725_219713726insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 219724841 . G . . NT END=219735748;NT GT ./. 2 219735970 . G . . NT END=219736206;NT GT ./. 2 219736369 rs141494427 C G 298 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=NA;PC=0.119;Gene=WNT6/NM_006522.3/1;CC=c.464C>G;ProtCh=p.P155R;VC=Missense;DM=WNT6/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:146:97:0:0:51,95:1707,2942:0.00,298.24:0.00,158.53:0.00,139.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,40.4:0,0:0,0:54,65:77,84:34,32:-,NM_006522.3(WNT6) c.464C>G (p.Pro155Arg):-,0.02:-,0.045048 2 219736542 . G . . NT END=219738105;NT GT ./. 2 219738568 . C . . NT END=219745717;NT GT ./. 2 219745831 . G . . NT END=219746882;NT GT ./. 2 219747146 . G . . NT END=219754705;NT GT ./. 2 219755086 . G . . NT END=219757495;NT GT ./. 2 219757994 . G . . NT END=219824542;NT GT ./. 2 219825647 . G . . NT END=219846388;NT GT ./. 2 219846979 . C . . NT END=219848952;NT GT ./. 2 219849028 . C . . NT END=219849745;NT GT ./. 2 219849798 . C . . NT END=219854973;NT GT ./. 2 219849840 rs397841107 AG A 74 rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;PC=0.736;Gene=FEV/NM_017521.2/1;CC=c.-44delC;VC=5UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:65:31:0:26:39,26:1215,806:0.00,74.02:0.00,29.73:0.00,44.29:0.00,1.00:0.00,1.00:0.00,1.00:60,70:19.2,9.3:0,0:0,0:106,97:42,49:29,27:-,NM_017521.2(FEV) c.-49C[5]:-,NOT_FOUND:-,0.027972 2 219855122 . C . . NT END=219855573;NT GT ./. 2 219855717 . C . . NT END=219856823;NT GT ./. 2 219856966 . C . . NT END=219857737;NT GT ./. 2 219857899 . G . . NT END=219867658;NT GT ./. 2 219867744 . C . . NT END=219867856;NT GT ./. 2 219867995 . C . . NT END=219868673;NT GT ./. 2 219869178 . C . . NT END=219870155;NT GT ./. 2 219870285 . C . . NT END=219870742;NT GT ./. 2 219870946 . C . . NT END=219871186;NT GT ./. 2 219871232 . C . . NT END=219873768;NT GT ./. 2 219873526 rs79997799 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;Gene=LOC100129175/NR_046086.1/0;VC=NonCoding;Gene=CFAP65/NM_194302.3/1;CC=c.4674+243G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:4:0:0:1,3:30,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,44.3:0,0:0,0:2,26:149,125:0,22:-,NM_194302.2(CCDC108) c.4674+243G>A:-,0.0037:-,NOT_FOUND 2 219873877 . C . . NT END=219874068;NT GT ./. 2 219874183 . C . . NT END=219874663;NT GT ./. 2 219874808 . C . . NT END=219875267;NT GT ./. 2 219875427 . C . . NT END=219875526;NT GT ./. 2 219875719 . C . . NT END=219877980;NT GT ./. 2 219878092 . C . . NT END=219878240;NT GT ./. 2 219878308 . C . . NT END=219878589;NT GT ./. 2 219878756 rs9967806 G A 88 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LOC100129175/NR_046086.1/0;VC=NonCoding;Gene=CFAP65/NM_194302.3/1;CC=c.3613C>T;ProtCh=p.L1205F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:62:31:0:0:28,33,1:933,1077,11:88.37,0.00,-0.04:32.50,0.00,0.11:55.87,0.00,-0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.4,7.9,11.0:0,0,0:0,0,0:87,102,144:58,49,6:43,28,0:NM_194302.2(CCDC108) c.3613C>T (p.Leu1205Phe),-:0.18,-:0.201599,- 2 219878767 . C . . NT END=219883772;NT GT ./. 2 219883902 . C . . NT END=219884227;NT GT ./. 2 219884442 . C . . NT END=219885873;NT GT ./. 2 219886003 . C . . NT END=219886501;NT GT ./. 2 219886653 . C . . NT END=219886892;NT GT ./. 2 219887052 . C . . NT END=219887928;NT GT ./. 2 219888154 . C . . NT END=219888736;NT GT ./. 2 219888983 . C . . NT END=219890743;NT GT ./. 2 219890689 rs370089597 GGCA G 38 nt VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=31;PC=0.002;Gene=CFAP65/NM_194302.3/1;CC=c.2349+52_2349+54delTGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGCA,I,G:42:38:1:14:27,1,14:835,22,423:0.00,0.81,37.55:0.00,0.86,22.64:0.00,-0.05,14.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:11.6,182.0,14.5:2,1,0:0,0,0:79,79,41:72,72,99:28,0,21:-,NM_194302.2(CCDC108) c.2349+52_2349+54delTGC:-,NOT_FOUND:-,NOT_FOUND 2 219890694 rs199687595 A G 43 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.004;Gene=CFAP65/NM_194302.3/1;CC=c.2349+50T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:36:0:2:25,15:811,472:0.00,42.85:0.00,24.93:0.00,17.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,15.4:0,14:0,0:67,31:84,116:33,14:-,NM_194302.2(CCDC108) c.2349+50T>C:-,NOT_FOUND:-,NOT_FOUND 2 219890882 . C . . NT END=219891473;NT GT ./. 2 219890979 rs7560948 T C 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=CFAP65/NM_194302.3/1;CC=c.2212-98A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:9:0:0:15,24:408,773:36.63,0.00:10.63,0.00:25.99,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:44.6,7.9:0,0:0,0:112,105:32,42:34,29:NM_194302.2(CCDC108) c.2212-98A>G,-:0.2,-:NOT_FOUND,- 2 219892233 rs61749573 T A 186 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=NA;Gene=CFAP65/NM_194302.3/1;CC=c.2211+139A>T;VC=Intron;Gene=CFAP65/NM_001278295.1/0;CC=c.2317A>T;ProtCh=p.T773S;VC=Missense;Gene=CFAP65/NM_001278296.1/0;CC=c.2155A>T;ProtCh=p.T719S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:119:87:0:0:62,57:1920,1756:185.76,0.00:104.29,0.00:81.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,3.4:0,0:0,0:59,42:87,108:29,30:NM_194302.2(CCDC108) c.2211+139A>T,-:0.08,-:NOT_FOUND,- 2 219892732 . C . . NT END=219892922;NT GT ./. 2 219893124 . C . . NT END=219894124;NT GT ./. 2 219894391 . C . . NT END=219894707;NT GT ./. 2 219894931 . C . . NT END=219895410;NT GT ./. 2 219895557 . C . . NT END=219895827;NT GT ./. 2 219895896 rs147961888 T G 179 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=6;PC=0.746;Gene=CFAP65/NM_194302.3/1;CC=c.947A>C;ProtCh=p.E316A;VC=Missense;Gene=CFAP65/NM_001278295.1/0;CC=c.914A>C;ProtCh=p.E305A;VC=Missense;Gene=CFAP65/NM_001278296.1/0;CC=c.752A>C;ProtCh=p.E251A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:142:105:0:0:2,58,82:31,1921,2691:0.43,178.53,0.00:0.49,90.67,0.00:-0.06,87.87,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:98.5,39.2,7.2:0,0,0:0,0,0:78,79,72:68,66,69:32,38,34:NM_194302.2(CCDC108) c.947A>C (p.Glu316Ala),-:NOT_FOUND,-:0.000538,- 2 219896028 . C . . NT END=219896210;NT GT ./. 2 219896381 . C . . NT END=219897191;NT GT ./. 2 219896550 rs4453686 C G 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.006;Gene=CFAP65/NM_194302.3/1;CC=c.646-170G>C;VC=Intron;Gene=CFAP65/NM_001278295.1/0;CC=c.613-170G>C;VC=Intron;Gene=CFAP65/NM_001278296.1/0;CC=c.451-170G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:30:0:0:0:1,15,14:10,471,416:0.05,0.00,39.55:0.00,0.00,0.00:0.05,0.00,39.55:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:70.0,15.1,53.7:0,0,0:0,0,0:32,106,86:117,45,65:0,24,34:-,NM_194302.2(CCDC108) c.646-170G>C:-,0.25:-,NOT_FOUND 2 219896981 rs10932793 C A 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CFAP65/NM_194302.3/1;CC=c.645+211G>T;VC=Intron;Gene=CFAP65/NM_001278295.1/0;CC=c.612+211G>T;VC=Intron;Gene=CFAP65/NM_001278296.1/0;CC=c.450+211G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:38:A,C:8:8:0:0:6,2:180,46:18.95,0.00:18.95,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:31.3,28.5:0,0:0,0:38,48:113,102:27,19:NM_194302.2(CCDC108) c.645+211G>T,-:0.2,-:NOT_FOUND,- 2 219897295 . C . . NT END=219900016;NT GT ./. 2 219900387 . C . . NT END=219903096;NT GT ./. 2 219903258 rs6736922 T G 333 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=CFAP65/NM_194302.3/1;CC=c.196A>C;ProtCh=p.M66L;VC=Missense;Gene=CFAP65/NM_001278295.1/0;CC=c.163A>C;ProtCh=p.M55L;VC=Missense;Gene=CFAP65/NM_001278296.1/0;CC=c.1A>C;ProtCh=p.M1?;VC=Missense;Gene=CFAP65/NM_152389.3/0;CC=c.1A>C;ProtCh=p.M1?;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:90:49:0:0:1,89:12,2910:0.17,332.99:0.00,134.69:0.17,198.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:106.0,40.3:0,0:0,0:139,85:12,63:0,33:NM_194302.2(CCDC108) c.196A>C (p.Met66Leu),NM_194302.2(CCDC108) c.196A>C (p.Met66Leu):0.61,0.61:0.696217,0.696217 2 219903301 . C . . NT END=219903617;NT GT ./. 2 219903723 rs4674354 C T 236 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;Gene=CFAP65/NM_194302.3/1;CC=c.48G>A;ProtCh=p.V16=;VC=Silent;Gene=CFAP65/NM_001278295.1/0;CC=c.72-57G>A;VC=Intron;Gene=CFAP65/NM_001278296.1/0;CC=c.-42-423G>A;VC=Intron;Gene=CFAP65/NM_152389.3/0;CC=c.-42-423G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:T:64:38:0:0:64:2057:236.01:101.71:134.30:1.00:1.00:1.00:60:54.2:0:0:89:61:32:NM_194302.2(CCDC108) c.=,NM_194302.2(CCDC108) c.=:0.61,0.61:0.692296,0.692296 2 219903773 . C . . NT END=219905240;NT GT ./. 2 219903787 rs4672910 T C 181 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=CFAP65/NM_194302.3/1;CC=c.-2-15A>G;VC=Intron;Gene=CFAP65/NM_001278295.1/0;CC=c.72-121A>G;VC=Intron;Gene=CFAP65/NM_001278296.1/0;CC=c.-42-487A>G;VC=Intron;Gene=CFAP65/NM_152389.3/0;CC=c.-42-487A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:C:49:21:0:0:49:1575:180.81:52.87:127.95:1.00:1.00:1.00:60:65.2:0:0:97:54:20:NM_194302.2(CCDC108) c.-2-15A>G,NM_194302.2(CCDC108) c.-2-15A>G:0.45,0.45:0.527372,0.527372 2 219905287 . c . . NT END=219906209;NT GT ./. 2 219906066 rs11674400 C A 64 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=CFAP65/NM_194302.3/1;CC=c.-49+144G>T;VC=Intron;Gene=CFAP65/NM_001278295.1/0;CC=c.25+144G>T;VC=Intron;Gene=CFAP65/NM_001278296.1/0;CC=c.-89+144G>T;VC=Intron;Gene=CFAP65/NM_152389.3/0;CC=c.-89+144G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:550:63.57:63.57:0.00:1.00:1.00:0.00:60:40.7:0:0:57:93:31:NM_194302.2(CCDC108) c.-49+144G>T,NM_194302.2(CCDC108) c.-49+144G>T:0.45,0.45:NOT_FOUND,NOT_FOUND 2 219906235 . A . . NT END=219919928;NT GT ./. 2 219906565 rs1546322 C T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C,T:6:0:0:0:1,5:10,121:0.00,13.29:0.00,0.00:0.00,13.29:0.00,0.99:0.00,0.00:0.00,0.99:60,60:123.0,36.0:0,0:0,0:115,123:36,28:0,5:NM_194302.2(CCDC108) c.-84-u320G>A,NM_194302.2(CCDC108) c.-84-u320G>A:0.45,0.45:NOT_FOUND,NOT_FOUND 2 219908733 rs71040415 CCTTCTGCGCA C 15 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=558;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:5:0:5:5:126:14.92:11.15:3.78:1.00:1.00:1.00:60:16.8:0:0:103:47:25:NM_194302.2(CCDC108) c.-84-u2498_-84-u2489delTGCGCAGAAG,NM_194302.2(CCDC108) c.-84-u2498_-84-u2489delTGCGCAGAAG:0.45,0.45:NOT_FOUND,NOT_FOUND 2 219919754 rs3099 G C 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=IHH/NM_002181.3/1;CC=c.*175C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:527:60.32:60.32:0.00:1.00:1.00:0.00:60:54.9:0:0:43:108:26:NM_002181.3(IHH) c.*175C>G,NM_002181.3(IHH) c.*175C>G:0.46,0.46:NOT_FOUND,NOT_FOUND 2 219920037 rs394452 A G 484 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=NA;PC=0.962;Gene=IHH/NM_002181.3/1;CC=c.1128T>C;ProtCh=p.T376=;VC=Silent;DM=IHH/Hint GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:139:101:0:0:2,136,1:11,4205,9:0.08,483.76,0.06:0.00,283.57,0.06:0.08,200.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:87.5,39.2,189.0:0,0,0:0,0,0:35,76,69:115,73,82:25,37,0:NM_002181.3(IHH) c.=,NM_002181.3(IHH) c.=:0.88,0.88:0.851453,0.851453 2 219920412 rs3731881 A G 704 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=195;DB;DBA=NA;PAF=NA;Gene=IHH/NM_002181.3/1;CC=c.753T>C;ProtCh=p.P251=;VC=Silent;DM=IHH/Hint GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:195:111:0:0:195:6112:703.83:300.96:402.87:1.00:1.00:1.00:60:40.8:0:0:89:61:34:NM_002181.3(IHH) c.753T>C (p.(=)),NM_002181.3(IHH) c.753T>C (p.(=)):0.51,0.51:0.594418,0.594418 2 219920588 . C . . NT END=219922154;NT GT ./. 2 219920822 rs427587 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=42;Gene=IHH/NM_002181.3/1;CC=c.578-235G>A;VC=Intron;DM=IHH/Hint GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:31.2:0:0:122:28:15:NM_002181.3(IHH) c.578-235G>A,NM_002181.3(IHH) c.578-235G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 2 219922073 rs76433127 G GC 150 nt VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=221;PC=0.002;Gene=IHH/NM_002181.3/1;CC=c.577+81dupG;VC=Intron;DM=IHH/Hint;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:GC:44:40:44:0:44:1287:149.63:130.11:19.52:1.00:1.00:1.00:70:17.3:0:0:43:104:28:NM_002181.3(IHH) c.577+81_577+82insG,NM_002181.3(IHH) c.577+81_577+82insG:0.51,0.51:NOT_FOUND,NOT_FOUND 2 219922417 . C . . NT END=219924874;NT GT ./. 2 219925190 . G . . NT END=219941102;NT GT ./. 2 219925247 rs186760637 G A 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=7;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:19:0:0:23,29:683,917:63.75,0.00:10.70,0.00:53.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,12.0:0,0:0,0:108,104:39,47:31,31:NM_002181.3(IHH) c.-49-u9C>T,-:0.01,-:NOT_FOUND,- 2 219941063 rs897477 G A 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=NHEJ1/NM_024782.2/1;CC=c.*40C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:A:26:24:0:0:26:785:90.83:77.53:13.31:1.00:1.00:1.00:60:41.7:0:0:42:107:20:NM_024782.2(NHEJ1) c.*40C>T,NM_024782.2(NHEJ1) c.*40C>T:0.65,0.65:0.740197,0.740197 2 219941178 . C . . NT END=219941967;NT GT ./. 2 219942087 . C . . NT END=219942810;NT GT ./. 2 219942929 . C . . NT END=220011401;NT GT ./. 2 219942981 rs41272693 G A 68 nt VT=SNV;PN=C;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=NHEJ1/NM_024782.2/1;CC=c.589-53C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:14:0:0:23,31:734,1033:68.34,0.00:9.26,0.00:59.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,8.7:0,0:0,0:124,103:27,47:20,23:NM_024782.2(NHEJ1) c.589-53C>T,-:0.05,-:NOT_FOUND,- 2 219976386 rs60498053 G C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NHEJ1/NM_024782.2/1;CC=c.589-33458C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:0:5:163:18.68:2.04:16.64:1.00:1.00:1.00:60:46.8:0:0:105:46:14:NM_024782.2(NHEJ1) c.589-33458C>G,NM_024782.2(NHEJ1) c.589-33458C>G:0.63,0.63:NOT_FOUND,NOT_FOUND 2 220011461 . C . . NT END=220012378;NT GT ./. 2 220012033 rs7584830 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.007;Gene=NHEJ1/NM_024782.2/1;CC=c.529+346G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:4:0:0:1,4:35,132:0.00,14.02:0.00,14.72:0.00,-0.70:0.00,0.96:0.00,1.00:0.00,0.87:48,60:0.0,98.0:0,0:0,0:113,20:38,131:0,9:-,NM_024782.2(NHEJ1) c.529+346G>C:-,0.44:-,NOT_FOUND 2 220012116 rs7584931 C A 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=488;PC=0.014;Gene=NHEJ1/NM_024782.2/1;CC=c.529+263G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:274:31.69:31.69:0.00:1.00:1.00:0.00:60:60.0:0:0:72:76:31:NM_024782.2(NHEJ1) c.529+263G>T,NM_024782.2(NHEJ1) c.529+263G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 220012518 . C . . NT END=220022193;NT GT ./. 2 220012576 rs7585742 G C 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=NHEJ1/NM_024782.2/1;CC=c.391-59C>G;VC=Intron;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:9:0:0:20,19:640,643:61.78,0.00:4.19,0.00:57.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.8,1.2:0,0:0,0:115,96:32,53:26,28:NM_024782.2(NHEJ1) c.391-59C>G,-:0.44,-:NOT_FOUND,- 2 220022074 rs12694451 A G 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.018;Gene=NHEJ1/NM_024782.2/1;CC=c.390+120T>C;VC=Intron;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:30:0:0:14,16:446,485:0.00,47.11:0.00,47.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.4,47.1:0,0:0,0:36,65:115,86:21,31:-,NM_024782.2(NHEJ1) c.390+120T>C:-,0.44:-,NOT_FOUND 2 220022176 rs6436120 C T 251 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;Gene=NHEJ1/NM_024782.2/1;CC=c.390+18G>A;VC=Intron;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G,T:70:62:0:0:1,69:5,2183:0.03,250.69:0.03,184.76:0.00,65.93:0.00,1.00:0.00,1.00:0.00,1.00:6,60:173.0,39.9:0,0:0,0:96,45:26,102:0,34:NM_024782.2(NHEJ1) c.390+18G>A,NM_024782.2(NHEJ1) c.390+18G>A:0.94,0.94:0.916346,0.916346 2 220022407 . C . . NT END=220022907;NT GT ./. 2 220022435 rs2030452 G C 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NHEJ1/NM_024782.2/1;CC=c.178-29C>G;VC=Intron;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:44:16:0:0:2,23,18,1:23,685,580,10:0.52,67.09,0.00,0.02:0.26,20.19,0.00,-0.04:0.27,46.91,0.00,0.06:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:22.0,41.6,6.0,32.0:0,0,0,0:0,0,0,0:69,106,103,66:81,44,43,85:40,16,15,0:NM_024782.2(NHEJ1) c.178-29C>G,-:0.44,-:0.513302,- 2 220022711 rs59900739 TCTCACACA T 15 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=48;Gene=NHEJ1/NM_024782.2/1;CC=c.177+189_177+196delTGTGTGAG;VC=Intron;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:TCTCACACA,T:14:13:0:7:9,5:255,203:0.00,15.33:0.00,15.77:0.00,-0.44:0.00,0.89:0.00,0.99:0.00,0.73:60,60:43.4,23.2:1,1:0,0:70,30:40,120:28,3:-,NM_024782.2(NHEJ1) c.177+189_177+196delTGTGTGAG:-,NOT_FOUND:-,NOT_FOUND 2 220022715 rs6729288 A T 10 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=33;Gene=NHEJ1/NM_024782.2/1;CC=c.177+193T>A;VC=Intron;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:A,T:7:7:0:9:4,3:129,103:0.00,9.66:0.00,9.66:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:27.2,77.7:0,0:0,0:124,46:27,103:14,1:-,NM_024782.2(NHEJ1) c.177+193T>A:-,NOT_FOUND:-,NOT_FOUND 2 220022717 rs62191801 A T 13 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=20;Gene=NHEJ1/NM_024782.2/1;CC=c.177+191T>A;VC=Intron;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF;DM=NHEJ1/XLF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,T:8:8:0:8:4,4:110,131:0.00,12.61:0.00,10.77:0.00,1.84:0.00,0.87:0.00,0.87:0.00,0.67:60,60:27.2,76.5:0,0:0,0:126,48:25,81:14,14:-,NM_024782.2(NHEJ1) c.177+191T>A:-,NOT_FOUND:-,NOT_FOUND 2 220023085 . C . . NT END=220026630;NT GT ./. 2 220023196 rs2293069 A C 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.006;Gene=NHEJ1/NM_024782.2/1;CC=c.1-112T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:27:1:0:0:12,15:333,499:0.00,49.06:0.00,2.52:0.00,46.54:0.00,1.00:0.00,0.70:0.00,1.00:60,60:15.5,47.3:0,0:0,0:55,128:95,21:36,14:-,NM_024782.2(NHEJ1) c.1-112T>G:-,0.44:-,NOT_FOUND 2 220026369 rs6713887 G T 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SLC23A3/NM_001144889.1/1;CC=c.*262C>A;VC=3UTR;Gene=SLC23A3/NM_001144890.1/0;CC=c.*262C>A;VC=3UTR;Gene=SLC23A3/NM_144712.4/0;CC=c.*262C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T:6:6:0:0:1,5:36,119:0.00,13.05:0.00,13.05:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:30.0,77.8:0,0:0,0:54,70:96,81:0,15:-,NM_001144890.1(SLC23A3) c.*262C>A:-,0.43:-,NOT_FOUND 2 220026927 . C . . NT END=220027020;NT GT ./. 2 220027117 . C . . NT END=220028109;NT GT ./. 2 220028278 . C . . NT END=220028954;NT GT ./. 2 220028707 rs7575555 G A 23 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SLC23A3/NM_001144889.1/1;CC=c.1273+248C>T;VC=Intron;Gene=SLC23A3/NM_001144890.1/0;CC=c.1297+248C>T;VC=Intron;Gene=SLC23A3/NM_144712.4/0;CC=c.922+248C>T;VC=Intron;DM=SLC23A3/Xan_ur_permease GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,C:7:6:0:0:6,1:202,12:22.66,0.86:22.66,0.00:0.00,0.86:1.00,0.00:1.00,0.00:0.90,0.00:60,60:33.7,12.0:0,0:0,0:28,130:123,21:23,0:NM_001144890.1(SLC23A3) c.1297+248C>T,NM_001144890.1(SLC23A3) c.1297+248C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 2 220028900 rs6753739 A G 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=SLC23A3/NM_001144889.1/1;CC=c.1273+55T>C;VC=Intron;Gene=SLC23A3/NM_001144890.1/0;CC=c.1297+55T>C;VC=Intron;Gene=SLC23A3/NM_144712.4/0;CC=c.922+55T>C;VC=Intron;DM=SLC23A3/Xan_ur_permease GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C,G:33:33:0:0:1,32:13,915:0.43,106.13:0.43,102.31:0.00,3.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,45.9:0,0:0,0:132,36:17,113:0,25:NM_001144890.1(SLC23A3) c.1297+55T>C,NM_001144890.1(SLC23A3) c.1297+55T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 2 220029061 . C . . NT END=220029890;NT GT ./. 2 220030145 . C . . NT END=220032651;NT GT ./. 2 220032767 . C . . NT END=220032916;NT GT ./. 2 220033041 . C . . NT END=220033373;NT GT ./. 2 220033556 . C . . NT END=220033750;NT GT ./. 2 220033825 . C . . NT END=220034006;NT GT ./. 2 220033830 rs3795986 A G 80 nt VT=SNV;PN=G;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.010;Gene=SLC23A3/NM_001144889.1/1;CC=c.419-6T>C;VC=Intron;Gene=SLC23A3/NM_001144890.1/0;CC=c.443-6T>C;VC=Intron;Gene=SLC23A3/NM_144712.4/0;CC=c.419-6T>C;VC=Intron;DM=SLC23A3/Xan_ur_permease GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:46:0:0:36,28:1116,855:0.00,79.78:0.00,45.78:0.00,33.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,50.5:0,0:0,0:86,92:65,54:40,30:-,NM_001144890.1(SLC23A3) c.443-6T>C:-,0.44:-,0.536611 2 220033956 rs6436121 T C 109 nt VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=SLC23A3/NM_001144889.1/1;CC=c.418+75A>G;VC=Intron;Gene=SLC23A3/NM_001144890.1/0;CC=c.442+51A>G;VC=Intron;Gene=SLC23A3/NM_144712.4/0;CC=c.418+75A>G;VC=Intron;DM=SLC23A3/Xan_ur_permease GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:87:68:0:0:38,49:1169,1615:109.12,0.00:85.41,0.00:23.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,6.4:0,0:0,0:55,48:93,101:30,28:NM_001144890.1(SLC23A3) c.442+51A>G,-:0.44,-:0.533071,- 2 220034129 . C . . NT END=220034242;NT GT ./. 2 220034401 . C . . NT END=220034544;NT GT ./. 2 220034707 . G . . NT END=220037307;NT GT ./. 2 220037097 rs11236 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=CNPPD1/NM_015680.4/1;CC=c.*211G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:6:6:0:0:3,3:104,73:0.00,6.89:0.00,6.89:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:6.3,66.7:0,0:0,0:32,59:118,92:6,33:-,NM_015680.4(CNPPD1) c.*211G>A:-,0.43:-,NOT_FOUND 2 220037393 rs4674361 A G 389 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=NA;NP=3467;Gene=CNPPD1/NM_015680.4/1;CC=c.1148T>C;ProtCh=p.L383P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:106:83:0:0:106:3381:388.59:232.72:155.88:1.00:1.00:1.00:60:50.4:0:0:71:79:35:NM_015680.4(CNPPD1) c.=,NM_015680.4(CNPPD1) c.=:0.99,0.99:0.995617,0.995617 2 220037444 rs17655123 G A 173 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=NA;PC=0.669;Gene=CNPPD1/NM_015680.4/1;CC=c.1097C>T;ProtCh=p.P366L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:124:93:0:0:56,68:1829,2183:172.50,0.00:112.90,0.00:59.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.2,29.5:0,0:0,0:53,74:87,72:26,36:NM_015680.4(CNPPD1) c.1097C>T (p.Pro366Leu),-:0.11,-:0.097955,- 2 220037666 rs1127102 A G 211 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=NA;PC=0.668;Gene=CNPPD1/NM_015680.4/1;CC=c.875T>C;ProtCh=p.L292P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:147:91:0:0:75,71,1:2472,2211,9:0.00,211.03,-0.17:0.00,90.44,-0.05:0.00,120.59,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.9,50.2,150.0:0,0,0:0,0,0:94,93,65:55,53,83:36,38,0:-,NM_015680.4(CNPPD1) c.875T>C (p.Leu292Pro):-,0.42:-,0.495464 2 220037756 rs1043160 A G 143 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=110;DB;DBA=NA;PAF=NA;PC=0.984;Gene=CNPPD1/NM_015680.4/1;CC=c.785T>C;ProtCh=p.I262T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:110:58:0:0:61,49:1960,1528:0.00,143.25:0.00,52.65:0.00,90.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,52.9:0,0:0,0:80,72:71,77:31,31:-,NM_015680.4(CNPPD1) c.785T>C (p.Ile262Thr):-,0.43:-,0.508228 2 220037851 . C . . NT END=220038071;NT GT ./. 2 220038190 . C . . NT END=220038867;NT GT ./. 2 220038930 . C . . NT END=220039499;NT GT ./. 2 220039272 rs7593818 G C 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=CNPPD1/NM_015680.4/1;CC=c.510+228C>G;VC=Intron;DM=CNPPD1/Cyclin;DM=CNPPD1/Cyclin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:A,C,G:14:14:0:0:1,7,6:13,235,160:0.51,22.95,0.00:0.51,22.95,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:13.0,36.6,24.5:0,0,0:0,0,0:50,42,73:100,107,78:0,18,41:NM_015680.4(CNPPD1) c.510+228C>G,-:0.42,-:NOT_FOUND,- 2 220039629 . C . . NT END=220039709;NT GT ./. 2 220039831 . C . . NT END=220040312;NT GT ./. 2 220040216 . C CA 8 rn VT=INS;SST=Single;DP=15;NP=4;PC=0.022;Gene=CNPPD1/NM_015680.4/1;CC=c.260+96_260+97insT;VC=Intron;DM=CNPPD1/Cyclin;DM=CNPPD1/Cyclin;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,CA,D:15:15:3:1:11,3,1:362,100,31:0.00,8.27,2.07:0.00,8.37,2.10:0.00,-0.10,-0.03:0.00,0.55,0.00:0.00,0.55,0.00:0.00,0.47,0.00:60,60,60:21.0,31.3,0.0:0,0,0:0,0,0:39,54,46:112,96,105:34,31,0:-,NM_015680.4(CNPPD1) c.260+96_260+97insT:-,NOT_FOUND:-,NOT_FOUND 2 220040330 rs1127101 A G 118 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=NA;Gene=CNPPD1/NM_015680.4/1;CC=c.243T>C;ProtCh=p.Y81=;VC=Silent;DM=CNPPD1/Cyclin;DM=CNPPD1/Cyclin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:74:64:0:0:37,37:1201,1227:0.00,118.08:0.00,66.27:0.00,51.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,38.5:0,0:0,0:52,37:87,103:25,24:-,NM_015680.4(CNPPD1) c.243T>C (p.(=)):-,0.42:-,0.496848 2 220040395 . C . . NT END=220040944;NT GT ./. 2 220041054 . C . . NT END=220041481;NT GT ./. 2 220041091 rs6436123 G A 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.552;Gene=CNPPD1/NM_015680.4/1;CC=c.70-38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:7:0:0:16,14:518,454:50.43,0.00:5.85,0.00:44.58,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:37.9,15.7:0,0:0,0:127,74:23,75:16,23:NM_015680.4(CNPPD1) c.70-38C>T,-:0.42,-:0.495848,- 2 220041222 rs59013810 CAT C 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=303;Gene=CNPPD1/NM_015680.4/1;CC=c.70-171_70-170delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CAT,C:4:1:0:3:1,3:33,93:0.00,9.75:0.00,2.85:0.00,6.90:0.00,0.85:0.00,0.83:0.00,0.99:60,60:0.0,0.0:0,0:0,0:146,46:5,104:0,7:-,NM_015680.4(CNPPD1) c.70-171_70-170delAT:-,0.42:-,NOT_FOUND 2 220041433 rs6436124 C A 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=CNPPD1/NM_015680.4/1;CC=c.69+49G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:35:32:0:0:14,21:470,635:43.45,0.00:27.82,0.00:15.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.4,41.7:0,0:0,0:57,55:93,96:36,38:NM_015680.4(CNPPD1) c.69+49G>T,-:0.43,-:0.544794,- 2 220041455 rs6436125 C T 167 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=CNPPD1/NM_015680.4/1;CC=c.69+27G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:T:43:40:0:0:43:1462:166.67:124.71:41.96:1.00:1.00:1.00:60:52.3:0:0:66:85:43:NM_015680.4(CNPPD1) c.69+27G>A,NM_015680.4(CNPPD1) c.69+27G>A:0.72,0.72:0.854758,0.854758 2 220041551 . C . . NT END=220043276;NT GT ./. 2 220043356 . G . . NT END=220043643;NT GT ./. 2 220043751 . G . . NT END=220044454;NT GT ./. 2 220044486 . G . . NT END=220044831;NT GT ./. 2 220044968 . G . . NT END=220045391;NT GT ./. 2 220045035 rs7577690 G A 47 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FAM134A/NM_024293.4/1;CC=c.555+68G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:11:0:0:16,19:498,631:46.93,0.00:5.96,0.00:40.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,7.4:0,0:0,0:84,75:66,76:43,37:NM_024293.4(FAM134A) c.555+68G>A,-:0.24,-:NOT_FOUND,- 2 220045477 . G . . NT END=220045783;NT GT ./. 2 220045928 . G . . NT END=220046090;NT GT ./. 2 220046186 . G . . NT END=220046361;NT GT ./. 2 220046349 rs2272017 G C 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=FAM134A/NM_024293.4/1;CC=c.880-13G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:62:48:0:0:31,30,1:1050,943,8:101.43,0.00,-0.12:63.01,0.00,-0.04:38.42,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,11.7,251.0:0,0,0:0,0,0:75,54,72:76,96,70:36,30,0:NM_024293.4(FAM134A) c.880-13G>C,-:0.48,-:0.616408,- 2 220046498 . G . . NT END=220046734;NT GT ./. 2 220046840 rs3210652 G A 161 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.011;Gene=FAM134A/NM_024293.4/1;CC=c.1121G>A;ProtCh=p.R374H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:114:69:0:0:53,61:1701,1897:161.25,0.00:67.46,0.00:93.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.7,9.8:0,0:0,0:94,62:56,83:31,36:NM_024293.4(FAM134A) c.1121G>A (p.Arg374His),-:0.12,-:0.098262,- 2 220046975 rs3731900 C A 177 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=NA;Gene=FAM134A/NM_024293.4/1;CC=c.1256C>A;ProtCh=p.P419Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:116:82:0:0:58,58:1847,1929:177.41,0.00:96.64,0.00:80.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,15.1:0,0:0,0:77,55:74,90:34,34:NM_024293.4(FAM134A) c.1256C>A (p.Pro419Gln),-:0.43,-:0.514916,- 2 220047352 . G . . NT END=220071709;NT GT ./. 2 220047393 rs3731901 C T 111 nt VT=SNV;PN=C;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=NA;PC=0.973;Gene=FAM134A/NM_024293.4/1;CC=c.*42C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:24:0:0:35,37:1176,1152:0.00,111.12:0.00,14.50:0.00,96.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,46.6:0,0:0,0:109,86:41,61:23,23:-,NM_024293.4(FAM134A) c.*42C>T:-,0.43:-,0.509842 2 220071766 . T . . NT END=220072048;NT GT ./. 2 220071803 rs6714820 C G 252 nt VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=ZFAND2B/NM_001270998.1/1;CC=c.55+39C>G;VC=Intron;Gene=ZFAND2B/NM_001270999.1/0;CC=c.55+39C>G;VC=Intron;Gene=ZFAND2B/NM_138802.2/0;CC=c.55+39C>G;VC=Intron;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/UIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:43:0:0:66:2210:252.42:137.49:114.93:1.00:1.00:1.00:60:54.1:0:0:116:28:22:NM_138802.2(ZFAND2B) c.55+39C>G,NM_138802.2(ZFAND2B) c.55+39C>G:0.77,0.77:0.774373,0.774373 2 220071879 rs66491679 TG T 37 idl,rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=376;PC=0.023;Gene=ZFAND2B/NM_001270998.1/1;CC=c.55+124delG;VC=Intron;Gene=ZFAND2B/NM_001270999.1/0;CC=c.55+124delG;VC=Intron;Gene=ZFAND2B/NM_138802.2/0;CC=c.55+124delG;VC=Intron;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/zf-AN1;DM=ZFAND2B/UIM;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:TG,T:19:18:0:19:7,12:199,469:0.00,37.28:0.00,31.53:0.00,5.74:0.00,1.00:0.00,1.00:0.00,0.96:60,60:54.9,34.6:0,3:0,0:144,42:7,103:2,29:-,NM_138802.2(ZFAND2B) c.55+116delG:-,0.87:-,NOT_FOUND 2 220072145 . T . . NT END=220072369;NT GT ./. 2 220072503 . T . . NT END=220072608;NT GT ./. 2 220072762 . T . . NT END=220072977;NT GT ./. 2 220072766 rs4674366 G T 424 nt VT=SNV;PN=T;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=NA;PC=0.805;Gene=ZFAND2B/NM_001270998.1/1;CC=c.434+6G>T;VC=Intron;Gene=ZFAND2B/NM_001270999.1/0;CC=c.302+6G>T;VC=Intron;Gene=ZFAND2B/NM_138802.2/0;CC=c.434+6G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:114:56:0:0:114:3701:424.37:145.46:278.91:1.00:1.00:1.00:60:49.0:0:0:92:52:28:NM_138802.2(ZFAND2B) c.434+6G>T,NM_138802.2(ZFAND2B) c.434+6G>T:0.99,0.99:0.98531,0.98531 2 220072852 rs4674367 C T 230 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=ZFAND2B/NM_001270998.1/1;CC=c.434+92C>T;VC=Intron;Gene=ZFAND2B/NM_001270999.1/0;CC=c.302+92C>T;VC=Intron;Gene=ZFAND2B/NM_138802.2/0;CC=c.434+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C,T:65:21:0:0:1,64:12,2015:0.00,230.06:0.00,79.27:0.00,150.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,57.3:0,0:0,0:21,90:129,60:0,34:NM_138802.2(ZFAND2B) c.434+92C>T,NM_138802.2(ZFAND2B) c.434+92C>T:0.45,0.45:NOT_FOUND,NOT_FOUND 2 220073072 . T . . NT END=220073147;NT GT ./. 2 220073210 . T . . NT END=220073293;NT GT ./. 2 220073363 . T . . NT END=220073698;NT GT ./. 2 220073773 . T . . NT END=220073983;NT GT ./. 2 220074030 . G . . NT END=220074659;NT GT ./. 2 220074769 . C . . NT END=220074951;NT GT ./. 2 220075021 . C . . NT END=220075102;NT GT ./. 2 220075198 . C . . NT END=220075207;NT GT ./. 2 220075312 . C . . NT END=220075432;NT GT ./. 2 220075572 . C . . NT END=220075655;NT GT ./. 2 220075831 . C . . NT END=220077108;NT GT ./. 2 220077214 . C . . NT END=220077729;NT GT ./. 2 220077788 . C . . NT END=220077962;NT GT ./. 2 220078049 . C . . NT END=220078160;NT GT ./. 2 220078225 . C . . NT END=220078311;NT GT ./. 2 220078389 . C . . NT END=220078547;NT GT ./. 2 220078496 rs2139823 T C 388 nt VT=SNV;PN=C;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=NA;Gene=ABCB6/NM_005689.2/1;CC=c.1578+52A>G;VC=Intron;DM=ABCB6/ABC_tran;DM=ABCB6/ABC_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:108:70:0:0:108:3367:387.99:194.08:193.91:1.00:1.00:1.00:60:40.4:0:0:52:93:36:NM_005689.2(ABCB6) c.1578+52A>G,NM_005689.2(ABCB6) c.1578+52A>G:0.97,0.97:0.977503,0.977503 2 220078674 . C . . NT END=220078842;NT GT ./. 2 220078909 . C . . NT END=220079110;NT GT ./. 2 220079221 . C . . NT END=220079682;NT GT ./. 2 220079805 . C . . NT END=220080718;NT GT ./. 2 220080903 . C . . NT END=220081085;NT GT ./. 2 220081188 . C . . NT END=220081373;NT GT ./. 2 220081555 . C . . NT END=220082391;NT GT ./. 2 220082365 rs370883149 C CA 13 rn VT=INS;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=87;PC=0.001;Gene=ABCB6/NM_005689.2/1;CC=c.687+26_687+27insT;VC=Intron;DM=ABCB6/ABC_membrane;DM=ABCB6/MTABC_N;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C,CA,D:59:52:6:3:2,49,6,2:57,1564,188,101:3.00,0.00,13.43,4.08:3.19,0.00,14.04,0.73:-0.20,0.00,-0.62,3.35:0.00,0.00,0.82,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.81,0.00:60,60,60,60:109.0,9.2,29.7,0.0:1,0,0,1:0,0,0,0:90,53,39,39:54,98,109,112:43,32,16,10:-,NM_005689.2(ABCB6) c.687+26_687+27insT:-,NOT_FOUND:-,NOT_FOUND 2 220082530 . C . . NT END=220082846;NT GT ./. 2 220082642 rs544130710 T TA 10 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=ABCB6/NM_005689.2/1;CC=c.550-114dupT;VC=Intron;DM=ABCB6/ABC_membrane;DM=ABCB6/MTABC_N;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,G,T,TA,D:39:21:5:5:1,1,29,5,3:22,12,724,140,161:0.79,0.01,0.00,10.21,6.88:-0.14,0.18,0.00,7.17,3.39:0.92,-0.17,0.00,3.04,3.49:0.00,0.00,0.00,0.76,0.00:0.00,0.00,0.00,0.86,0.00:0.00,0.00,0.00,0.90,0.00:60,60,60,60,60:136.0,34.0,39.4,35.4,41.3:0,0,0,0,2:0,0,0,0,0:109,129,108,62,82:29,21,26,76,69:0,0,40,35,15:-,NM_005689.2(ABCB6) c.550-114_550-113insT:-,NOT_FOUND:-,NOT_FOUND 2 220083279 rs1109866 C T 570 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=161;DB;DBA=NA;PAF=NA;PC=0.164;Gene=ABCB6/NM_005689.2/1;CC=c.117G>A;ProtCh=p.L39=;VC=Silent;DM=ABCB6/MTABC_N;DM=ABCB6/MTABC_N;DM=ABCB6/MTABC_N;DM=ABCB6/MTABC_N;DM=ABCB6/MTABC_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:161:90:0:0:161:4937:569.81:258.25:311.56:1.00:1.00:1.00:60:40.9:0:0:78:69:35:NM_005689.2(ABCB6) c.117G>A (p.(=)),NM_005689.2(ABCB6) c.117G>A (p.(=)):0.77,0.77:0.760009,0.760009 2 220083396 . G . . NT END=220085168;NT GT ./. 2 220083453 rs1109867 G T 230 nt VT=SNV;PN=T;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;Gene=ABCB6/NM_005689.2/1;CC=c.-58C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:T:64:30:0:0:64:1998:230.13:66.21:163.92:1.00:1.00:1.00:60:42.2:0:0:104:42:30:NM_005689.2(ABCB6) c.-58C>A,NM_005689.2(ABCB6) c.-58C>A:0.77,0.77:NOT_FOUND,NOT_FOUND 2 220083655 rs4674369 C T 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ABCB6/NM_005689.2/1;CC=c.-260G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:232:26.54:0.00:26.54:1.00:0.00:1.00:60:49.4:0:0:118:33:12:NM_005689.2(ABCB6) c.-260G>A,NM_005689.2(ABCB6) c.-260G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 220085175 . C . . NT END=220085468;NT GT ./. 2 220085615 . C . . NT END=220085801;NT GT ./. 2 220085845 rs2276633 A G 403 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=NA;PC=0.026;Gene=ATG9A/NM_001077198.2/1;CC=c.2325T>C;ProtCh=p.T775=;VC=Silent;Gene=ATG9A/NM_024085.4/0;CC=c.2325T>C;ProtCh=p.T775=;VC=Silent;Gene=ATG9A/NR_104255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:113:94:0:0:113:3494:403.12:254.08:149.04:1.00:1.00:1.00:60:36.5:0:0:62:83:35:NM_001077198.1(ATG9A) c.2325T>C (p.(=)),NM_001077198.1(ATG9A) c.2325T>C (p.(=)):0.87,0.87:0.893471,0.893471 2 220086025 . C . . NT END=220086771;NT GT ./. 2 220086890 . C . . NT END=220086993;NT GT ./. 2 220087173 . C . . NT END=220087366;NT GT ./. 2 220087616 . C . . NT END=220088306;NT GT ./. 2 220088248 rs908196 A G 120 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=ATG9A/NM_001077198.2/1;CC=c.1599+59T>C;VC=Intron;Gene=ATG9A/NM_024085.4/0;CC=c.1599+59T>C;VC=Intron;Gene=ATG9A/NR_104255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:G:36:35:0:0:36:1036:120.42:108.84:11.58:1.00:1.00:1.00:60:40.4:0:0:28:122:21:NM_001077198.1(ATG9A) c.1599+59T>C,NM_001077198.1(ATG9A) c.1599+59T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 2 220088487 . C . . NT END=220088590;NT GT ./. 2 220088745 . C . . NT END=220088827;NT GT ./. 2 220089577 . C . . NT END=220089792;NT GT ./. 2 220089590 rs74441929 T TG 261 nt VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3195;NP=65;Gene=ATG9A/NM_001077198.2/1;CC=c.517-15dupC;VC=Intron;Gene=ATG9A/NM_024085.4/0;CC=c.517-15dupC;VC=Intron;Gene=ATG9A/NR_104255.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:G,T,TG:86:45:77:0:3,6,77:78,165,2333:4.99,0.00,260.52:0.32,0.00,108.18:4.68,0.00,152.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:59.7,21.8,20.0:2,1,0:0,0,0:81,146,84:70,4,66:42,3,27:NM_001077198.1(ATG9A) c.517-15_517-14insC,NM_001077198.1(ATG9A) c.517-15_517-14insC:NOT_FOUND,NOT_FOUND:0.747324,0.747324 2 220089685 rs2276637 G C 187 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=ATG9A/NM_001077198.2/1;CC=c.516+108C>G;VC=Intron;Gene=ATG9A/NM_024085.4/0;CC=c.516+108C>G;VC=Intron;Gene=ATG9A/NR_104255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:29:0:0:51:1624:186.59:96.51:90.08:1.00:1.00:1.00:60:41.2:0:0:98:51:37:NM_001077198.1(ATG9A) c.516+108C>G,NM_001077198.1(ATG9A) c.516+108C>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 220089935 . C . . NT END=220090132;NT GT ./. 2 220090295 . C . . NT END=220091590;NT GT ./. 2 220091656 . G . . NT END=220092491;NT GT ./. 2 220092536 . C . . NT END=220092643;NT GT ./. 2 220092747 . C . . NT END=220094979;NT GT ./. 2 220095128 . G . . NT END=220096649;NT GT ./. 2 220096763 . G . . NT END=220096981;NT GT ./. 2 220097085 . G . . NT END=220097211;NT GT ./. 2 220097406 . G . . NT END=220097800;NT GT ./. 2 220097914 . G . . NT END=220098007;NT GT ./. 2 220098156 . G . . NT END=220098436;NT GT ./. 2 220098666 . G . . NT END=220098854;NT GT ./. 2 220099011 . G . . NT END=220099547;NT GT ./. 2 220100035 . G . . NT END=220100195;NT GT ./. 2 220100308 . G . . NT END=220100429;NT GT ./. 2 220100598 . G . . NT END=220100731;NT GT ./. 2 220100818 . G . . NT END=220101043;NT GT ./. 2 220101168 . T . . NT END=220101793;NT GT ./. 2 220102070 . C . . NT END=220102233;NT GT ./. 2 220102450 . C . . NT END=220102547;NT GT ./. 2 220102680 . C . . NT END=220102971;NT GT ./. 2 220103086 . C . . NT END=220103216;NT GT ./. 2 220103307 . C . . NT END=220103426;NT GT ./. 2 220103502 . C . . NT END=220103813;NT GT ./. 2 220103933 . C . . NT END=220104132;NT GT ./. 2 220104174 . C . . NT END=220104282;NT GT ./. 2 220104405 . C . . NT END=220104496;NT GT ./. 2 220104556 . C . . NT END=220104641;NT GT ./. 2 220104817 . C . . NT END=220104912;NT GT ./. 2 220105008 . C . . NT END=220107235;NT GT ./. 2 220107011 rs397987879 GT G,GTT 10 idl;end,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=398;PC=0.003;DM=GLB1L/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:26:GTT,G:4:4:1:3:1,3:32,94:3.08,10.46:3.08,10.46:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,19.3:0,0:0,0:7,51:144,100:0,22:NM_024506.3(GLB1L) c.451+224delA,NM_024506.3(GLB1L) c.451+224dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220107297 . C . . NT END=220107489;NT GT ./. 2 220107641 . C . . NT END=220107869;NT GT ./. 2 220108037 . C . . NT END=220108223;NT GT ./. 2 220108296 . G . . NT END=220110721;NT GT ./. 2 220108514 rs10194492 A G 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=GLB1L/NM_001286423.1/0;CC=c.-70-149T>C;VC=Intron;Gene=GLB1L/NM_024506.4/1;CC=c.-58-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:1:0:0:11:357:40.95:3.68:37.27:1.00:1.00:1.00:60:34.5:0:0:128:23:22:NM_024506.3(GLB1L) c.-58-161T>C,NM_024506.3(GLB1L) c.-58-161T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 220110808 . G . . NT END=220111378;NT GT ./. 2 220111599 . G . . NT END=220111834;NT GT ./. 2 220111969 . G . . NT END=220112136;NT GT ./. 2 220112258 . G . . NT END=220112383;NT GT ./. 2 220112480 . G . . NT END=220112914;NT GT ./. 2 220113037 . G . . NT END=220113142;NT GT ./. 2 220113242 rs7601549 T G 347 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=1.000;Gene=STK16/NM_001008910.2/1;CC=c.879T>G;ProtCh=p.L293=;VC=Silent;Gene=STK16/NR_026909.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:93:47:0:0:91,2:3067,19:346.76,0.00:125.85,0.00:220.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,145.5:0,0:0,0:88,97:61,46:35,33:NM_001008910.2(STK16) c.=,NM_001008910.2(STK16) c.=:0.96,0.96:0.975712,0.975712 2 220113282 . A . . NT END=220115073;NT GT ./. 2 220113384 rs8447 G A 79 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=STK16/NM_001008910.2/1;CC=c.*103G>A;VC=3UTR;Gene=STK16/NR_026909.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:2:0:0:21:688:78.80:3.63:75.17:1.00:1.00:1.00:60:53.4:0:0:114:35:26:NM_001008910.2(STK16) c.*103G>A,NM_001008910.2(STK16) c.*103G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 2 220114848 rs188037939 A G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=40;Gene=STK16/NM_001008910.2/1;CC=c.*1567A>G;VC=3UTR;Gene=STK16/NR_026909.1/0;VC=NonCoding;Gene=TUBA4A/NM_006000.2/1;CC=c.*226T>C;VC=3UTR;Gene=TUBA4A/NM_001278552.1/0;CC=c.*226T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:14:14:0:0:10,4:317,141:0.00,12.37:0.00,12.37:0.00,0.00:0.00,0.77:0.00,0.77:0.00,0.00:60,60:12.1,40.0:0,0:0,0:37,37:113,112:17,11:-,NM_001008910.2(STK16) c.*1567A>G:-,0.01:-,NOT_FOUND 2 220116046 . C . . NT END=220116286;NT GT ./. 2 220116436 . C . . NT END=220116729;NT GT ./. 2 220116953 . C . . NT END=220117930;NT GT ./. 2 220118076 rs60456844 CG C 20 rn VT=DEL;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=2;Gene=TUBA4A/NM_006000.2/1;CC=c.3+501delC;VC=Intron;Gene=TUBA4A/NM_001278552.1/0;CC=c.-43+740delC;VC=Intron;Gene=TUBA4B/NR_003063.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:CG,G,C:122:57:0:9:110,3,9:3158,41,300:0.00,0.12,20.49:0.00,-0.43,6.82:0.00,0.55,13.66:0.00,0.00,0.95:0.00,0.00,0.94:0.00,0.00,0.99:60,60,60:17.8,89.3,2.0:0,0,0:0,0,0:93,76,88:55,72,63:36,12,19:-,NR_003063.1(TUBA4B) n.113G[9]:-,NOT_FOUND:-,NOT_FOUND 2 220118077 . G . . NT END=220118577;NT GT ./. 2 220118531 rs939574 G C 201 nt VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=TUBA4A/NM_006000.2/1;CC=c.3+47C>G;VC=Intron;Gene=TUBA4A/NM_001278552.1/0;CC=c.-43+286C>G;VC=Intron;Gene=TUBA4B/NR_003063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C:55:44:0:0:55:1751:201.14:113.14:87.99:1.00:1.00:1.00:60:43.4:0:0:36:105:22:NM_006000.1(TUBA4A) c.3+47C>G,NM_006000.1(TUBA4A) c.3+47C>G:0.77,0.77:0.758414,0.758414 2 220118581 . G . . NT END=220144555;NT GT ./. 2 220136155 rs7594971 T C 598 nt VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=NA;PC=0.998;Gene=TUBA4B/NR_003063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:171:126:0:0:171:5174:598.29:342.56:255.73:1.00:1.00:1.00:60:40.1:0:0:77:69:41:NR_003063.1(TUBA4B) n.=,NR_003063.1(TUBA4B) n.=:0.99,0.99:NOT_FOUND,NOT_FOUND 2 220136351 rs3731892 G A 222 nt VT=SNV;PN=A;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA4B/NR_003063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:129:60:0:0:68,61:2279,1942:221.58,0.00:90.22,0.00:131.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.4,4.3:0,1:0,0:74,62:74,86:39,41:NR_003063.1(TUBA4B) n.=,-:0.58,-:NOT_FOUND,- 2 220136371 rs3731894 T C 198 nt VT=SNV;PN=T;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA4B/NR_003063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:122:62:0:0:64,58:2046,1909:198.40,0.00:93.52,0.00:104.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.0,3.1:0,0:0,0:78,69:63,82:37,39:NR_003063.1(TUBA4B) n.=,-:0.9,-:NOT_FOUND,- 2 220136836 rs10166888 G T 27 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TUBA4B/NR_003063.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,T:13:2:0:0:4,9:92,257:0.00,26.53:0.00,1.73:0.00,24.80:0.00,1.00:0.00,0.92:0.00,1.00:60,60:68.0,53.6:0,0:0,0:122,85:28,66:18,30:-,NR_003063.1(TUBA4B) n.=:-,0.55:-,NOT_FOUND 2 220144410 rs908197 G C 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=DNAJB2/NM_001039550.1/1;CC=c.-36-110G>C;VC=Intron;Gene=DNAJB2/NM_006736.5/0;CC=c.-36-110G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:22:22:0:0:9,13:321,394:29.94,0.00:29.94,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.1,6.5:0,0:0,0:78,20:73,131:18,14:NM_001039550.1(DNAJB2) c.-36-110G>C,-:0.22,-:NOT_FOUND,- 2 220144621 . G . . NT END=220145299;NT GT ./. 2 220145286 rs2276638 C T 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;PC=0.002;Gene=DNAJB2/NM_001039550.1/1;CC=c.66-14C>T;VC=Intron;Gene=DNAJB2/NM_006736.5/0;CC=c.66-14C>T;VC=Intron;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:49:47:0:0:28,1,20:924,13,634:0.00,0.08,58.76:0.00,0.14,46.24:0.00,-0.06,12.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.7,26.0,41.0:0,0,0:0,0,0:42,56,46:103,95,92:21,0,31:-,NM_001039550.1(DNAJB2) c.66-14C>T:-,0.25:-,0.278487 2 220145410 . G . . NT END=220146439;NT GT ./. 2 220146196 rs6730612 G T 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=DNAJB2/NM_001039550.1/1;CC=c.176-244G>T;VC=Intron;Gene=DNAJB2/NM_006736.5/0;CC=c.176-244G>T;VC=Intron;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,T:7:7:0:0:1,6:36,198:0.00,21.41:0.00,21.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,33.0:0,0:0,0:66,63:85,87:0,42:-,NM_001039550.1(DNAJB2) c.176-244G>T:-,0.25:-,NOT_FOUND 2 220146402 rs3731896 C T 101 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=NA;Gene=DNAJB2/NM_001039550.1/1;CC=c.176-38C>T;VC=Intron;Gene=DNAJB2/NM_006736.5/0;CC=c.176-38C>T;VC=Intron;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ;DM=DNAJB2/DnaJ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:54:0:0:26,32:769,1027:0.00,100.66:0.00,84.13:0.00,16.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,46.5:0,0:0,0:42,42:105,107:22,22:-,NM_001039550.1(DNAJB2) c.176-38C>T:-,0.25:-,0.284792 2 220146494 . G . . NT END=220146660;NT GT ./. 2 220146609 rs397783034 C CG 119 nt VT=INS;SST=Single;DP=101;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1397;NP=5;Gene=DNAJB2/NM_001039550.1/1;CC=c.230-51dupG;VC=Intron;Gene=DNAJB2/NM_006736.5/0;CC=c.230-51dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CG:101:67:43:0:56,2,43:1762,52,1280:0.00,2.30,119.06:0.00,0.98,49.12:0.00,1.32,69.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.6,59.0,29.7:0,0,0:0,0,0:56,2,74:91,148,76:29,1,41:-,NM_001039550.1(DNAJB2) c.230-52_230-51insG:-,0.47:-,0.355671 2 220146651 rs3731897 G A 163 nt VT=SNV;PN=T;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=NA;Gene=DNAJB2/NM_001039550.1/1;CC=c.230-10G>A;VC=Intron;Gene=DNAJB2/NM_006736.5/0;CC=c.230-10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:124:86:0:0:56,68:1730,2319:162.61,0.00:66.42,0.00:96.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,7.4:0,0:0,0:60,58:87,81:38,33:NM_001039550.1(DNAJB2) c.230-10G>A,-:0.15,-:0.171767,- 2 220146784 . G . . NT END=220147558;NT GT ./. 2 220147652 . G . . NT END=220147854;NT GT ./. 2 220147732 rs2276639 C T 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=DNAJB2/NM_001039550.1/1;CC=c.445+81C>T;VC=Intron;Gene=DNAJB2/NM_006736.5/0;CC=c.445+81C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:22:0:0:25,26:832,755:0.00,72.51:0.00,31.48:0.00,41.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,39.7:0,0:0,0:86,75:65,76:29,45:-,NM_001039550.1(DNAJB2) c.445+81C>T:-,0.17:-,NOT_FOUND 2 220147958 . G . . NT END=220148140;NT GT ./. 2 220148212 . G . . NT END=220149353;NT GT ./. 2 220150720 . G . . NT END=220154947;NT GT ./. 2 220155020 . C . . NT END=220155259;NT GT ./. 2 220155334 . C . . NT END=220155547;NT GT ./. 2 220155613 . C . . NT END=220156191;NT GT ./. 2 220156246 . C . . NT END=220159696;NT GT ./. 2 220159864 . C . . NT END=220160947;NT GT ./. 2 220160077 rs11887718 T C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=PTPRN/NM_001199764.1/0;CC=c.2239-214A>G;VC=Intron;Gene=PTPRN/NM_001199763.1/0;CC=c.2422-214A>G;VC=Intron;Gene=PTPRN/NM_002846.3/1;CC=c.2509-214A>G;VC=Intron;DM=PTPRN/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:C,T:16:0:0:0:6,10:134,307:11.57,0.00:0.00,0.00:11.57,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.2,20.8:0,0:0,0:102,86:49,63:17,12:NM_002846.3(PTPRN) c.2509-214A>G,-:0.24,-:NOT_FOUND,- 2 220160644 rs6436132 G T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.012;Gene=PTPRN/NM_001199764.1/0;CC=c.2238+304C>A;VC=Intron;Gene=PTPRN/NM_001199763.1/0;CC=c.2421+304C>A;VC=Intron;Gene=PTPRN/NM_002846.3/1;CC=c.2508+304C>A;VC=Intron;DM=PTPRN/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,T:4:4:0:0:1,3:36,99:0.00,10.35:0.00,8.48:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:10.0,37.0:0,0:0,0:45,19:106,131:0,8:-,NM_002846.3(PTPRN) c.2508+304C>A:-,0.44:-,NOT_FOUND 2 220161068 . C . . NT END=220161160;NT GT ./. 2 220161239 . C . . NT END=220161470;NT GT ./. 2 220161306 rs2292604 C T 66 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.006;Gene=PTPRN/NM_001199764.1/0;CC=c.2041-68G>A;VC=Intron;Gene=PTPRN/NM_001199763.1/0;CC=c.2224-68G>A;VC=Intron;Gene=PTPRN/NM_002846.3/1;CC=c.2311-68G>A;VC=Intron;DM=PTPRN/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:21:0:0:15,22:480,663:0.00,65.88:0.00,22.35:0.00,43.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,37.0:0,0:0,0:90,102:60,44:53,28:-,NM_002846.3(PTPRN) c.2311-68G>A:-,0.18:-,NOT_FOUND 2 220161545 . C . . NT END=220161706;NT GT ./. 2 220161855 . C . . NT END=220161954;NT GT ./. 2 220162156 . C . . NT END=220162606;NT GT ./. 2 220162826 . C . . NT END=220163768;NT GT ./. 2 220163834 . C . . NT END=220164026;NT GT ./. 2 220164107 . C . . NT END=220164421;NT GT ./. 2 220164509 . C . . NT END=220164706;NT GT ./. 2 220164982 . C . . NT END=220165664;NT GT ./. 2 220165700 . C . . NT END=220166309;NT GT ./. 2 220166442 . C . . NT END=220166858;NT GT ./. 2 220167214 . C . . NT END=220167297;NT GT ./. 2 220167560 . C . . NT END=220168456;NT GT ./. 2 220168554 . C . . NT END=220172165;NT GT ./. 2 220168607 rs2271593 C T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=PTPRN/NM_001199764.1/0;CC=c.11-54G>A;VC=Intron;Gene=PTPRN/NM_001199763.1/0;CC=c.281-54G>A;VC=Intron;Gene=PTPRN/NM_002846.3/1;CC=c.281-54G>A;VC=Intron;DM=PTPRN/RESP18;DM=PTPRN/Y_phosphatase;DM=PTPRN/RESP18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:20:5:0:0:10,1,9:299,9,301:0.00,0.08,28.68:0.00,-0.03,4.96:0.00,0.11,23.72:0.00,0.00,1.00:0.00,0.00,0.94:0.00,0.00,1.00:60,60,60:4.7,132.0,78.0:0,0,0:0,0,0:112,2,110:38,148,38:26,0,20:-,NM_002846.3(PTPRN) c.281-54G>A:-,0.18:-,0.20565 2 220168616 rs2271594 C T 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PTPRN/NM_001199764.1/0;CC=c.11-63G>A;VC=Intron;Gene=PTPRN/NM_001199763.1/0;CC=c.281-63G>A;VC=Intron;Gene=PTPRN/NM_002846.3/1;CC=c.281-63G>A;VC=Intron;DM=PTPRN/RESP18;DM=PTPRN/Y_phosphatase;DM=PTPRN/RESP18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:5:0:0:8,10:264,311:0.00,30.50:0.00,4.80:0.00,25.69:0.00,1.00:0.00,0.98:0.00,1.00:60,60:5.9,88.6:0,0:0,0:113,106:37,44:13,17:-,NM_002846.3(PTPRN) c.281-63G>A:-,0.38:-,NOT_FOUND 2 220172280 . C . . NT END=220172513;NT GT ./. 2 220172565 . C . . NT END=220173603;NT GT ./. 2 220173501 rs80322301 C A 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=PTPRN/NM_001199764.1/0;CC=c.-156+103G>T;VC=Intron;Gene=PTPRN/NM_001199763.1/0;CC=c.115+439G>T;VC=Intron;Gene=PTPRN/NM_002846.3/1;CC=c.115+439G>T;VC=Intron;DM=PTPRN/Y_phosphatase;DM=PTPRN/RESP18;DM=PTPRN/RESP18;DM=PTPRN/RESP18;DM=PTPRN/RESP18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:40:34:0:0:25,15:733,514:73.63,0.00:52.45,0.00:21.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,18.0:0,0:0,0:46,38:97,112:27,24:NM_002846.3(PTPRN) c.115+439G>T,-:0.09,-:NOT_FOUND,- 2 220173730 . A . . NT END=220173939;NT GT ./. 2 220174055 . C . . NT END=220192238;NT GT ./. 2 220192286 . C . . NT END=220193645;NT GT ./. 2 220193731 . C . . NT END=220193884;NT GT ./. 2 220193975 . C . . NT END=220194358;NT GT ./. 2 220194137 rs201086488 CAG C 35 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=37;Gene=RESP18/NM_001007089.3/1;CC=c.466-165_466-164delCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:CAG,C:16:9:0:11:5,11:149,338:0.00,34.75:0.00,15.57:0.00,19.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.0,12.3:0,0:0,0:83,63:63,87:15,31:-,NM_001007089.3(RESP18) c.466-165_466-164delCT:-,0.02:-,NOT_FOUND 2 220194247 rs397959261 A AATT 29 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=413;Gene=RESP18/NM_001007089.3/1;CC=c.465+111_465+112insAAT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AATT:34:33:11:0:22,1,11:702,32,326:0.00,1.86,28.73:0.00,1.88,27.29:0.00,-0.02,1.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.72:60,60,60:14.5,32.0,13.6:0,0,0:0,0,0:34,0,41:113,151,110:24,0,35:-,NM_001007089.3(RESP18) c.465+111_465+112insAAT:-,0.41:-,NOT_FOUND 2 220194487 . C . . NT END=220195492;NT GT ./. 2 220194531 rs149517641 CG C 61 nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=193;Gene=RESP18/NM_001007089.3/1;CC=c.338-46delC;VC=Intron;DM=RESP18/RESP18;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,T,C:53:27:0:23:29,1,23:870,12,659:0.00,0.02,61.46:0.00,-0.08,22.29:0.00,0.11,39.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.8,101.0,17.9:0,0,0:0,0,0:98,30,89:52,121,60:34,0,29:-,NM_001007089.3(RESP18) c.338-46delC:-,0.09:-,0.099264 2 220195446 rs6707009 C G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=RESP18/NM_001007089.3/1;CC=c.337+47G>C;VC=Intron;DM=RESP18/RESP18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:26:0:0:17,10:554,304:0.00,27.44:0.00,22.27:0.00,5.17:0.00,1.00:0.00,1.00:0.00,0.89:60,60:6.9,30.4:0,0:0,0:53,75:98,75:30,55:-,NM_001007089.3(RESP18) c.337+47G>C:-,0.41:-,0.443933 2 220195598 . C . . NT END=220197245;NT GT ./. 2 220197207 rs2048737 T C 96 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=RESP18/NM_001007089.3/1;CC=c.232+39A>G;VC=Intron;DM=RESP18/RESP18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:48:0:0:29,23:981,731:96.44,0.00:74.72,0.00:21.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.1,10.7:0,0:0,0:36,51:115,98:17,29:NM_001007089.3(RESP18) c.232+39A>G,-:0.4,-:0.428856,- 2 220197321 rs2385405 C T 204 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;PC=0.002;Gene=RESP18/NM_001007089.3/1;CC=c.157G>A;ProtCh=p.E53K;VC=Missense;DM=RESP18/RESP18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:91:0:0:54,64:1746,2088:0.00,204.02:0.00,110.60:0.00,93.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,69.7:0,0:0,0:72,68:73,73:37,28:-,NM_001007089.3(RESP18) c.157G>A (p.Glu53Lys):-,0.4:-,0.431398 2 220197388 rs2385404 C A 174 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=NA;Gene=RESP18/NM_001007089.3/1;CC=c.90G>T;ProtCh=p.E30D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:114:72:0:0:57,57:1812,1924:174.04,0.00:66.95,0.00:107.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:85.5,11.6:0,0:0,0:87,67:59,79:33,34:NM_001007089.3(RESP18) c.90G>T (p.Glu30Asp),-:0.41,-:0.436044,- 2 220197424 rs2385403 C T 163 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;Gene=RESP18/NM_001007089.3/1;CC=c.54G>A;ProtCh=p.P18=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:118:72:0:0:62,56:2035,1717:0.00,162.85:0.00,49.35:0.00,113.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,87.1:0,0:0,0:74,69:60,78:36,37:-,NM_001007089.3(RESP18) c.54G>A (p.(=)):-,0.19:-,NOT_FOUND 2 220197461 . C . . NT END=220239013;NT GT ./. 2 220197492 rs2385402 C G 112 nt VT=SNV;PN=T;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=0.154;Gene=RESP18/NM_001007089.3/1;CC=c.18-32G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:74:30:0:0:38,36:1159,1172:0.00,112.19:0.00,28.80:0.00,83.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,87.7:0,0:0,0:107,123:34,22:20,17:-,NM_001007089.3(RESP18) c.18-32G>C:-,0.41:-,NOT_FOUND 2 220197672 rs2385401 A G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001;Gene=RESP18/NM_001007089.3/1;CC=c.17+211T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:9:0:0:0:6,3:201,96:0.00,8.54:0.00,0.00:0.00,8.54:0.00,0.96:0.00,0.00:0.00,0.96:60,60:32.5,56.0:0,0:0,0:99,94:51,57:26,31:-,NM_001007089.3(RESP18) c.17+211T>C:-,0.41:-,NOT_FOUND 2 220234255 rs6436145 C T 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:258:29.61:25.68:3.93:1.00:1.00:1.00:60:37.0:0:0:25:123:16:chr2 g.220234254C>T (intergenic),chr2 g.220234254C>T (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 2 220234330 rs58266888 A AACACAC 15 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=6;NP=6;PC=0.004;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AACACAC:4:5:7:0:4:189:14.54:6.72:7.81:0.90:0.98:0.90:60:61.8:3:0:90:60:12:chr2 g.220234330_220234331insACACAC (intergenic),chr2 g.220234330_220234331insACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220239065 . C . . NT END=220239576;NT GT ./. 2 220239322 rs3821040 G A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.073;Gene=DNPEP/NM_012100.2/1;CC=c.1407+255C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:10:6:0:0:4,6:126,199:11.58,0.00:4.77,0.00:6.81,0.00:0.84,0.00:0.94,0.00:0.87,0.00:60,60:33.8,24.8:0,0:0,0:53,39:97,112:47,14:NM_012100.2(DNPEP) c.1407+255C>T,-:0.76,-:NOT_FOUND,- 2 220239534 rs3731904 G A 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=0.122;Gene=DNPEP/NM_012100.2/1;CC=c.1407+43C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:43:0:0:20,30:591,922:54.00,0.00:40.03,0.00:13.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:69.3,14.5:0,0:0,0:46,47:104,102:26,27:NM_012100.2(DNPEP) c.1407+43C>T,-:0.78,-:0.798833,- 2 220239561 rs3731905 C G 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.1407+16G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:65:51:0:0:35,30:1054,1001:0.00,94.99:0.00,62.21:0.00,32.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,52.6:0,0:0,0:44,34:107,113:28,23:-,NM_012100.2(DNPEP) c.1407+16G>C:-,0.78:-,0.799854 2 220239745 . C . . NT END=220246056;NT GT ./. 2 220246159 . C . . NT END=220246266;NT GT ./. 2 220246218 rs6436148 T C 233 nt VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.1137+49A>G;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:A,C,T:69:40:0:0:1,67,1:12,2038,11:0.20,233.43,0.00:0.21,98.68,0.00:-0.01,134.75,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:48.0,39.3,13.0:0,0,0:0,0,0:119,80,26:31,71,125:0,41,0:NM_012100.2(DNPEP) c.1137+49A>G,NM_012100.2(DNPEP) c.1137+49A>G:0.92,0.92:0.929364,0.929364 2 220246307 . C . . NT END=220246700;NT GT ./. 2 220246862 . C . . NT END=220247852;NT GT ./. 2 220247937 . C . . NT END=220249087;NT GT ./. 2 220248195 rs10932802 C T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.853-259G>A;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:35.8:0:0:111:39:28:NM_012100.2(DNPEP) c.853-259G>A,NM_012100.2(DNPEP) c.853-259G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 220248927 rs10804272 A G 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=859;PC=0.002;Gene=DNPEP/NM_012100.2/1;CC=c.852+161T>C;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:365:41.74:41.74:0.00:1.00:1.00:0.00:60:51.5:0:0:48:103:15:NM_012100.2(DNPEP) c.852+161T>C,NM_012100.2(DNPEP) c.852+161T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 220249166 . C . . NT END=220250145;NT GT ./. 2 220249299 rs5838737 C CT 34 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=874;PC=0.001;Gene=DNPEP/NM_012100.2/1;CC=c.775-135_775-134insA;VC=Intron;DM=DNPEP/Peptidase_M18;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:18:0:11:0:7,11:234,342:0.00,34.22:0.00,0.00:0.00,34.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.7,25.7:0,0:0,0:144,90:7,61:1,32:-,NM_012100.2(DNPEP) c.775-135_775-134insA:-,0.88:-,NOT_FOUND 2 220249329 rs2002892 C T 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.012;Gene=DNPEP/NM_012100.2/1;CC=c.775-164G>A;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:274:31.66:0.00:31.66:1.00:0.00:1.00:60:39.2:0:0:99:52:22:NM_012100.2(DNPEP) c.775-164G>A,NM_012100.2(DNPEP) c.775-164G>A:0.89,0.89:NOT_FOUND,NOT_FOUND 2 220249908 rs1877868 T C 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.774+238A>G;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:145:16.86:16.86:0.00:1.00:1.00:0.00:60:50.0:0:0:40:110:29:NM_012100.2(DNPEP) c.774+238A>G,NM_012100.2(DNPEP) c.774+238A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 220250147 rs907679 A G 180 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3451;PC=1.000;Gene=DNPEP/NM_012100.2/1;CC=c.773T>C;ProtCh=p.V258A;VC=Missense;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:G:49:42:0:0:49:1569:180.09:111.68:68.41:1.00:1.00:1.00:60:41.6:0:0:36:110:20:NM_012100.2(DNPEP) c.=,NM_012100.2(DNPEP) c.=:1,1:0.999919,0.999919 2 220250254 . C . . NT END=220250352;NT GT ./. 2 220250322 rs878437 C A 205 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.666+31G>T;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:A:55:36:0:0:55:1787:204.78:99.80:104.98:1.00:1.00:1.00:60:39.1:0:0:79:71:40:NM_012100.2(DNPEP) c.666+31G>T,NM_012100.2(DNPEP) c.666+31G>T:0.89,0.89:0.892584,0.892584 2 220250429 . C . . NT END=220250689;NT GT ./. 2 220250821 . C . . NT END=220251007;NT GT ./. 2 220250826 rs2271456 G A 528 nt VT=SNV;PN=A;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=NA;PC=0.167;Gene=DNPEP/NM_012100.2/1;CC=c.460-6C>T;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:147:89:0:0:146,1:4592,10:528.23,0.07:241.75,0.07:286.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,201.0:0,0:0,0:86,121:62,16:34,0:NM_012100.2(DNPEP) c.460-6C>T,NM_012100.2(DNPEP) c.460-6C>T:0.87,0.87:0.858808,0.858808 2 220250897 rs11352428 AG A 343 nt VT=DEL;SST=Single;DP=99;DB;DBA=NA;PAF=NA;NP=3426;PC=0.001;Gene=DNPEP/NM_012100.2/1;CC=c.460-78delC;VC=Intron;DM=DNPEP/Peptidase_M18;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:AG,A:99:54:0:97:3,96:77,3033:0.00,343.38:0.00,137.03:0.00,206.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.3,27.0:0,0:0,0:146,95:1,55:1,36:NM_012100.2(DNPEP) c.460-78delC,NM_012100.2(DNPEP) c.460-78delC:0.93,0.93:NOT_FOUND,NOT_FOUND 2 220251134 . C . . NT END=220251386;NT GT ./. 2 220251178 rs2271457 T C 259 nt VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.334-45A>G;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:77:26:0:0:76,1:2247,12:258.60,0.00:73.83,0.00:184.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.7,56.0:0,0:0,0:98,22:45,128:23,0:NM_012100.2(DNPEP) c.334-45A>G,NM_012100.2(DNPEP) c.334-45A>G:0.89,0.89:0.898044,0.898044 2 220251208 rs1040009 T C 230 nt VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.334-75A>G;VC=Intron;DM=DNPEP/Peptidase_M18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C:63:18:0:0:63:2004:230.34:56.71:173.63:1.00:1.00:1.00:60:68.7:0:0:111:40:27:NM_012100.2(DNPEP) c.334-75A>G,NM_012100.2(DNPEP) c.334-75A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 2 220251501 . C . . NT END=220251613;NT GT ./. 2 220251703 . C . . NT END=220251791;NT GT ./. 2 220251886 . C . . NT END=220251999;NT GT ./. 2 220252085 . G . . NT END=220252297;NT GT ./. 2 220252287 rs138394024 CTCG C 402 nt VT=DEL;SST=Single;DP=113;DB;DBA=NA;PAF=NA;NP=199;PC=0.001;Gene=DNPEP/NM_012100.2/1;CC=c.36+191_36+193delCGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:CTCG,C:113:86:0:110:3,110:101,3552:0.00,401.63:0.00,262.43:0.00,139.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,5.1:0,0:0,0:144,56:1,89:0,25:NM_012100.2(DNPEP) c.36+191_36+193delCGA,NM_012100.2(DNPEP) c.36+191_36+193delCGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220252662 rs62193999 T G 409 nt VT=SNV;PN=T;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;Gene=DNPEP/NM_012100.2/1;CC=c.-146A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:121:18:0:0:120,1:3546,13:409.48,0.00:33.96,0.00:375.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.3,91.0:0,1:0,0:71,0:66,150:31,0:NM_012100.2(DNPEP) c.-146A>C,NM_012100.2(DNPEP) c.-146A>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 220252663 . g . . NT END=220253423;NT GT ./. 2 220252816 rs76414215 A C 63 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:0:0:0:18:547:63.27:0.00:63.27:1.00:0.00:1.00:60:75.9:0:0:94:42:31:NM_012100.2(DNPEP) c.-146-u154T>G,NM_012100.2(DNPEP) c.-146-u154T>G:0.68,0.68:NOT_FOUND,NOT_FOUND 2 220253471 . C . . NT END=220253555;NT GT ./. 2 220253599 . c . . NT END=220264587;NT GT ./. 2 220264412 rs13018645 A G 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:12:0:0:12:386:44.29:44.29:0.00:1.00:1.00:0.00:60:39.7:0:0:84:66:33:chr2 g.220264411A>G (intergenic),chr2 g.220264411A>G (intergenic):0.49,0.49:NOT_FOUND,NOT_FOUND 2 220264543 rs58721028 C CAT 146 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=165;PC=0.003;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:CAT:39:32:39:0:39:1276:146.20:98.79:47.41:1.00:1.00:1.00:60:1.4:0:0:52:99:18:chr2 g.220264543_220264544insAT (intergenic),chr2 g.220264543_220264544insAT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220264648 . G . . NT END=220283184;NT GT ./. 2 220282955 rs2070927 C T 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:14:0:0:14:414:48.03:48.03:0.00:1.00:1.00:0.00:60:44.1:0:0:33:117:18:NM_001927.3(DES) c.-86-u144C>T,NM_001927.3(DES) c.-86-u144C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 2 220283259 rs1318299 A G 609 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=170;DB;DBA=in-clinvar;PAF=NA;PC=0.473;Gene=DES/NM_001927.3/1;CC=c.75A>G;ProtCh=p.P25=;VC=Silent;DM=DES/Filament_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:170:132:0:0:169,1:5294,10:609.01,0.06:351.41,0.00:257.60,0.06:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.5,62.0:0,0:0,0:60,53:89,98:38,0:NM_001927.3(DES) c.75A>G (p.(=)),NM_001927.3(DES) c.75A>G (p.(=)):0.91,0.91:0.897233,0.897233 2 220283277 rs2017800 T C 687 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=180;DB;DBA=in-clinvar;PAF=NA;PC=0.986;Gene=DES/NM_001927.3/1;CC=c.93T>C;ProtCh=p.S31=;VC=Silent;DM=DES/Filament_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:180:132:0:0:180:6013:686.80:388.85:297.95:1.00:1.00:1.00:60:69.9:0:0:69:79:37:NM_001927.3(DES) c.93T>C (p.(=)),NM_001927.3(DES) c.93T>C (p.(=)):0.9,0.9:0.879394,0.879394 2 220283763 . G . . NT END=220284816;NT GT ./. 2 220283826 rs907677 T G 466 nt VT=SNV;PN=G;NN=C;SST=Single;DP=122;DB;DBA=NA;PAF=NA;NP=86;PC=0.003;Gene=DES/NM_001927.3/1;CC=c.578+64T>G;VC=Intron;DM=DES/Filament GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:122:58:0:0:122:4075:465.61:137.97:327.65:1.00:1.00:1.00:60:41.9:0:0:91:49:29:NM_001927.3(DES) c.578+64T>G,NM_001927.3(DES) c.578+64T>G:1,1:NOT_FOUND,NOT_FOUND 2 220284717 rs2666106 G C 146 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=3283;Gene=DES/NM_001927.3/1;CC=c.579-100G>C;VC=Intron;DM=DES/Filament GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C:42:40:0:0:42:1264:146.37:126.64:19.72:1.00:1.00:1.00:60:80.6:0:0:25:124:18:NM_001927.3(DES) c.579-100G>C,NM_001927.3(DES) c.579-100G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 220284779 rs12991025 C T 237 nt VT=SNV;PN=T;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;Gene=DES/NM_001927.3/1;CC=c.579-38C>T;VC=Intron;DM=DES/Filament GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:68:59:0:0:68:2051:237.16:178.54:58.62:1.00:1.00:1.00:60:63.8:0:0:57:88:26:NM_001927.3(DES) c.579-38C>T,NM_001927.3(DES) c.579-38C>T:0.54,0.54:0.479625,0.479625 2 220284878 . G . . NT END=220284972;NT GT ./. 2 220285069 . G . . NT END=220285216;NT GT ./. 2 220285379 . G . . NT END=220285549;NT GT ./. 2 220285676 . G . . NT END=220286061;NT GT ./. 2 220286283 . G . . NT END=220288498;NT GT ./. 2 220288543 . G . . NT END=220290384;NT GT ./. 2 220290468 . G . . NT END=220290670;NT GT ./. 2 220290713 . A . . NT END=220299699;NT GT ./. 2 220299541 rs907683 G T 30 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.691 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:30:0:0:20,10:529,336:0.00,30.13:0.00,30.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.5,42.0:0,0:0,0:52,59:99,91:24,45:-,NM_005876.4(SPEG) c.1-u159G>T:-,0.5:-,NOT_FOUND 2 220300088 . G . . NT END=220306766;NT GT ./. 2 220306806 . G . . NT END=220307829;NT GT ./. 2 220307873 . G . . NT END=220308746;NT GT ./. 2 220308581 rs10932805 A C 53 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SPEG/NM_005876.4/1;CC=c.389-794A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:15:0:0:15:456:52.73:50.89:1.84:1.00:1.00:1.00:60:35.3:0:0:61:89:49:NM_005876.4(SPEG) c.389-794A>C,NM_005876.4(SPEG) c.389-794A>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 220308782 . G . . NT END=220309374;NT GT ./. 2 220309465 . G . . NT END=220309546;NT GT ./. 2 220309884 . G . . NT END=220312695;NT GT ./. 2 220312652 rs141483469 G A 135 nt VT=SNV;PN=G;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=45;PC=0.962;Gene=SPEG/NM_005876.4/1;CC=c.816-44G>A;VC=Intron;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:82:75:0:0:44,1,37:1385,10,1115:135.24,-0.08,0.00:89.91,-0.04,0.00:45.33,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,154.0,19.4:0,0,0:0,0,0:40,68,41:109,73,110:22,0,24:NM_005876.4(SPEG) c.816-44G>A,-:0.01,-:0.010495,- 2 220313994 . G . . NT END=220315857;NT GT ./. 2 220315970 rs10932806 G A 195 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=NA;PC=0.998;Gene=SPEG/NM_005876.4/1;CC=c.2226G>A;ProtCh=p.K742=;VC=Silent;DM=SPEG/SPEG_u2;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:133:88:0:0:64,69:2044,2283:194.87,0.00:93.05,0.00:101.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,7.9:0,0:0,0:78,74:71,68:32,30:NM_005876.4(SPEG) c.2226G>A (p.(=)),-:0.47,-:0.40948,- 2 220316002 . G . . NT END=220316346;NT GT ./. 2 220316530 . G . . NT END=220325019;NT GT ./. 2 220316579 rs4674399 C T 274 nt VT=SNV;PN=T;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.2440+50C>T;VC=Intron;DM=SPEG/I-set;DM=SPEG/SPEG_u2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:80:22:0:0:80:2363:274.14:52.31:221.83:1.00:1.00:1.00:60:43.5:0:0:108:40:28:NM_005876.4(SPEG) c.2440+50C>T,NM_005876.4(SPEG) c.2440+50C>T:0.95,0.95:0.979417,0.979417 2 220325409 rs3755061 C T 141 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.2441-1195C>T;VC=Intron;DM=SPEG/I-set;DM=SPEG/SPEG_u2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:112:57:0:0:59,53:1781,1499:0.00,141.42:0.00,57.42:0.00,84.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.1,48.5:0,0:0,0:88,64:58,74:31,27:-,NM_005876.4(SPEG) c.2441-1195C>T:-,0.46:-,NOT_FOUND 2 220325719 . G . . NT END=220325943;NT GT ./. 2 220326023 . G . . NT END=220326150;NT GT ./. 2 220326252 . G . . NT END=220326603;NT GT ./. 2 220326780 . G . . NT END=220327019;NT GT ./. 2 220327109 . G . . NT END=220329154;NT GT ./. 2 220327262 rs34553082 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.2705+154C>T;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.158+154C>T;VC=Intron;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:18:0:0:0:14,4:420,116:0.00,9.37:0.00,0.00:0.00,9.37:0.00,0.73:0.00,0.00:0.00,0.73:60,60:8.4,40.8:0,0:0,0:119,88:30,62:30,20:-,NM_005876.4(SPEG) c.2705+154C>T:-,0.43:-,NOT_FOUND 2 220329331 . G . . NT END=220330778;NT GT ./. 2 220330532 rs7590434 T C 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.065;Gene=SPEG/NM_005876.4/1;CC=c.2881+1202T>C;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.335-247T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:60:50.7:0:0:53:98:48:NM_005876.4(SPEG) c.2881+1202T>C,NM_005876.4(SPEG) c.2881+1202T>C:0.36,0.36:NOT_FOUND,NOT_FOUND 2 220330616 rs4399716 C T 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.009;Gene=SPEG/NM_005876.4/1;CC=c.2882-1280C>T;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.335-163C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:16:15:0:0:5,11:171,311:0.00,31.98:0.00,26.96:0.00,5.02:0.00,1.00:0.00,1.00:0.00,0.92:60,60:101.2,51.2:0,0:0,0:12,47:139,98:1,38:-,NM_005876.4(SPEG) c.2882-1280C>T:-,0.36:-,NOT_FOUND 2 220330646 rs1976618 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SPEG/NM_005876.4/1;CC=c.2882-1250C>T;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.335-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:18:0:2:11,8:303,226:0.00,20.84:0.00,21.04:0.00,-0.20:0.00,0.99:0.00,1.00:0.00,0.61:60,60:46.1,100.4:11,0:0,0:52,40:99,110:27,6:-,NM_005876.4(SPEG) c.2882-1250C>T:-,NOT_FOUND:-,NOT_FOUND 2 220330647 . GCGCGTGTGCGTGCA G 32 nt VT=DEL;SST=Single;DP=21;NP=5;Gene=SPEG/NM_005876.4/1;CC=c.2882-1246_2882-1233delCGTGTGCGTGCACG;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.335-129_335-116delCGTGTGCGTGCACG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCGCGTGTGCGTGCA,G:21:20:0:11:10,11:294,335:0.00,32.45:0.00,29.42:0.00,3.03:0.00,1.00:0.00,1.00:0.00,0.81:60,60:89.2,46.1:2,0:0,0:41,53:108,98:7,27:-,NM_005876.4(SPEG) c.2882-1248_2882-1235delCGCGTGTGCGTGCA:-,NOT_FOUND:-,NOT_FOUND 2 220330661 rs1976617 A G 57 sb;idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.2882-1235A>G;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.335-118A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A,G:18:17:0:11:1,17:12,502:0.00,56.71:0.00,55.42:0.00,1.30:0.00,1.00:0.00,1.00:0.00,0.96:60,60:54.0,93.2:0,0:0,0:135,13:16,138:0,9:NM_005876.4(SPEG) c.2882-1235A>G,NM_005876.4(SPEG) c.2882-1235A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220330724 rs1567488 C T 100 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SPEG/NM_005876.4/1;CC=c.2882-1172C>T;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.335-55C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:63:0:0:36,34:1175,1052:0.00,100.35:0.00,81.49:0.00,18.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.2,83.6:0,0:0,0:45,46:102,104:31,23:-,NM_005876.4(SPEG) c.2882-1172C>T:-,0.44:-,NOT_FOUND 2 220330804 rs1567487 T C 176 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=0.987;Gene=SPEG/NM_005876.4/1;CC=c.2882-1092T>C;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.*18T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:122:102:0:0:58,64:1852,2016:176.15,0.00:126.37,0.00:49.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.7,8.7:0,0:0,0:66,68:80,78:33,35:NM_005876.4(SPEG) c.2882-1092T>C,-:0.48,-:0.421293,- 2 220330976 rs4369848 C A 179 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=152;DB;DBA=NA;PAF=NA;PC=0.282;Gene=SPEG/NM_005876.4/1;CC=c.2882-920C>A;VC=Intron;Gene=SPEG/NM_001173476.1/0;CC=c.*190C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:152:98:0:0:66,85,1:1921,2636,10:178.51,0.00,-0.19:98.99,0.00,-0.14:79.52,0.00,-0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.8,8.9,16.0:0,0,0:0,0,0:78,55,72:68,93,79:43,30,0:NM_005876.4(SPEG) c.2882-920C>A,-:0.41,-:NOT_FOUND,- 2 220331585 . T . . NT END=220331895;NT GT ./. 2 220331598 rs397719402 G GT 138 idl,rn VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;PC=1.000;Gene=SPEG/NM_005876.4/1;CC=c.2882-289dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:61:20:46:0:18,43:561,1425:0.00,137.70:0.00,26.29:0.00,111.41:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.8,19.2:0,3:0,0:141,97:8,53:6,24:-,NM_005876.4(SPEG) c.2882-298_2882-297insT:-,NOT_FOUND:-,NOT_FOUND 2 220332157 . G . . NT END=220333299;NT GT ./. 2 220332455 rs11688464 C G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.346;Gene=SPEG/NM_005876.4/1;CC=c.3142+299C>G;VC=Intron;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,G:7:0:0:0:2,5:70,164:0.00,16.97:0.00,0.00:0.00,16.97:0.00,0.98:0.00,0.00:0.00,0.98:60,60:14.5,42.2:0,0:0,0:103,120:48,31:22,20:-,NM_005876.4(SPEG) c.3142+299C>G:-,0.47:-,NOT_FOUND 2 220333459 . G . . NT END=220333580;NT GT ./. 2 220333771 . G . . NT END=220333877;NT GT ./. 2 220333950 rs10167209 T C 414 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.3564T>C;ProtCh=p.P1188=;VC=Silent;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:119:81:0:0:118,1:3594,12:413.51,0.00:218.89,0.00:194.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,100.0:0,0:0,0:70,108:78,17:40,0:NM_005876.4(SPEG) c.3564T>C (p.(=)),NM_005876.4(SPEG) c.3564T>C (p.(=)):0.99,0.99:0.983899,0.983899 2 220334102 . G . . NT END=220336589;NT GT ./. 2 220336710 . G . . NT END=220336948;NT GT ./. 2 220337054 . G . . NT END=220337611;NT GT ./. 2 220337196 rs1039897 G A 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.3940+143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:11,9:359,307:35.17,0.00:0.00,0.00:35.17,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.3,5.9:0,0:0,0:46,102:105,48:34,23:NM_005876.4(SPEG) c.3940+143G>A,-:0.56,-:NOT_FOUND,- 2 220337819 . G . . NT END=220338225;NT GT ./. 2 220338065 rs4674402 T C 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.4148-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:26:0:0:16,18:505,603:47.90,0.00:41.25,0.00:6.64,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:35.2,11.4:0,0:0,0:39,50:111,100:22,26:NM_005876.4(SPEG) c.4148-161T>C,-:0.32,-:NOT_FOUND,- 2 220338350 . G . . NT END=220338449;NT GT ./. 2 220338626 . G . . NT END=220341591;NT GT ./. 2 220338929 rs142085364 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.4447+304A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:4:2:0:0:2,2:59,70:0.00,6.75:0.00,1.54:0.00,5.21:0.00,0.51:0.00,0.79:0.00,0.89:60,60:0.0,35.0:0,0:0,0:125,51:25,87:21,6:-,NM_005876.4(SPEG) c.4447+304A>G:-,0.05:-,NOT_FOUND 2 220341705 . G . . NT END=220341998;NT GT ./. 2 220341937 rs77858465 G GGCGGGGCCTGGTACAGCGGC 78 nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.4561-62_4561-61insGCGGGGCCTGGTACAGCGGC;VC=Intron;DM=SPEG/I-set;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGCGGGGCCTGGTACAGCGGC:33:28:24:0:9,24:287,754:0.00,78.44:0.00,64.95:0.00,13.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,48.3:2,0:0,0:116,63:1,88:14,22:-,NM_005876.4(SPEG) c.4561-62_4561-61insGCGGGGCCTGGTACAGCGGC:-,NOT_FOUND:-,NOT_FOUND 2 220341938 rs376344559 C T 97 nt VT=SNV;PN=G;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SPEG/NM_005876.4/1;CC=c.4561-61C>T;VC=Intron;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:T,I:30:25:2:0:28,2:843,64:96.67,5.01:83.21,5.01:13.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,40.0:0,0:0,0:69,2:82,149:24,0:NM_005876.4(SPEG) c.4561-61C>T,NM_005876.4(SPEG) c.4561-61C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220342004 rs45519033 G A 124 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SPEG/NM_005876.4/1;CC=c.4566G>A;ProtCh=p.E1522=;VC=Silent;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:67:0:0:40,45:1301,1453:123.65,0.00:71.71,0.00:51.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.2,8.4:0,0:0,0:60,58:90,90:25,23:NM_005876.4(SPEG) c.4566G>A (p.(=)),-:0.04,-:0.05259,- 2 220342168 . G . . NT END=220342410;NT GT ./. 2 220342508 . G . . NT END=220342626;NT GT ./. 2 220342828 . G . . NT END=220343865;NT GT ./. 2 220343924 . G . . NT END=220344504;NT GT ./. 2 220344583 . G . . NT END=220344683;NT GT ./. 2 220344863 . G . . NT END=220345392;NT GT ./. 2 220345117 rs4674403 T G 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.5342+255T>G;VC=Intron;DM=SPEG/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:8:0:0:12:395:45.22:30.41:14.81:1.00:1.00:1.00:60:75.6:0:0:62:88:38:NM_005876.4(SPEG) c.5342+255T>G,NM_005876.4(SPEG) c.5342+255T>G:0.61,0.61:NOT_FOUND,NOT_FOUND 2 220345118 rs4674404 T C 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.5342+256T>C;VC=Intron;DM=SPEG/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:8:0:0:12:378:43.49:31.62:11.87:1.00:1.00:1.00:60:75.6:0:0:63:87:38:NM_005876.4(SPEG) c.5342+256T>C,NM_005876.4(SPEG) c.5342+256T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 2 220345420 . G . . NT END=220346025;NT GT ./. 2 220346179 . G . . NT END=220346359;NT GT ./. 2 220346403 . G . . NT END=220347505;NT GT ./. 2 220346596 rs3731906 C T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.5565+194C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:11:0:0:0:4,7:119,197:0.00,19.87:0.00,0.00:0.00,19.87:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.8,62.0:0,0:0,0:100,121:50,24:38,21:-,NM_005876.4(SPEG) c.5565+194C>T:-,0.56:-,NOT_FOUND 2 220347575 . G . . NT END=220347819;NT GT ./. 2 220349795 . G . . NT END=220350067;NT GT ./. 2 220350200 . G . . NT END=220352915;NT GT ./. 2 220350452 rs1810144 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.7741+253C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:8:0:0:0:3,5:105,167:0.00,16.79:0.00,0.00:0.00,16.79:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,54.4:0,0:0,0:115,93:36,57:4,16:-,NM_005876.4(SPEG) c.7741+253C>T:-,0.64:-,NOT_FOUND 2 220350502 rs10167337 A G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.7741+303A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:A,G:4:0:0:0:1,3:9,105:0.00,11.01:0.00,0.00:0.00,11.01:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,68.7:0,0:0,0:48,127:103,23:0,7:-,NM_005876.4(SPEG) c.7741+303A>G:-,0.58:-,NOT_FOUND 2 220353033 . G . . NT END=220353219;NT GT ./. 2 220353104 rs875097 A G 142 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.7858+72A>G;VC=Intron;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:G:41:23:0:0:41:1228:142.13:75.11:67.03:1.00:1.00:1.00:60:49.4:0:0:71:80:49:NM_005876.4(SPEG) c.7858+72A>G,NM_005876.4(SPEG) c.7858+72A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 220353161 rs11892048 G C 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.7859-59G>C;VC=Intron;DM=SPEG/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:55:42:0:0:27,28:774,892:73.56,0.00:52.05,0.00:21.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.4,25.2:0,0:0,0:57,54:94,97:32,23:NM_005876.4(SPEG) c.7859-59G>C,-:0.08,-:NOT_FOUND,- 2 220353388 . G . . NT END=220353499;NT GT ./. 2 220353440 rs62191888 G T 116 nt VT=SNV;PN=G;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=0.003;Gene=SPEG/NM_005876.4/1;CC=c.8026+53G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:90:55:0:0:50,40:1638,1240:0.00,116.21:0.00,59.03:0.00,57.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.9,38.9:0,0:0,0:69,63:81,81:37,44:-,NM_005876.4(SPEG) c.8026+53G>T:-,0.32:-,NOT_FOUND 2 220353532 rs13026308 C A 173 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=NA;PC=0.993;Gene=SPEG/NM_005876.4/1;CC=c.8059C>A;ProtCh=p.P2687T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:135:91:0:0:60,73,1,1:1837,2323,11,17:172.54,0.00,-0.13,0.08:98.53,0.00,-0.01,0.21:74.01,0.00,-0.12,-0.12:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:38.6,16.3,127.0,65.0:0,0,0,0:0,0,0,0:59,55,78,93:90,84,73,54:35,32,0,0:NM_005876.4(SPEG) c.8059C>A (p.Pro2687Thr),-:0.09,-:0.095929,- 2 220353623 . G . . NT END=220353775;NT GT ./. 2 220353944 . G . . NT END=220354057;NT GT ./. 2 220354108 rs55760516 A G 168 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SPEG/NM_005876.4/1;CC=c.8368A>G;ProtCh=p.R2790G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:117:63:0:0:59,2,56:1780,17,1763:0.00,-0.20,168.41:0.00,0.06,60.74:0.00,-0.26,107.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.9,42.0,49.5:0,0,0:0,0,0:79,106,79:56,36,59:27,20,36:-,NM_005876.4(SPEG) c.8368A>G (p.Arg2790Gly):-,0.37:-,0.373679 2 220354542 rs55969678 G A 175 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.8802G>A;ProtCh=p.P2934=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:78:0:0:57,62:1835,1930:174.84,0.00:77.07,0.00:97.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,5.7:0,0:0,0:77,80:72,66:31,30:NM_005876.4(SPEG) c.8802G>A (p.(=)),-:0.09,-:0.056048,- 2 220354662 . G . . NT END=220355130;NT GT ./. 2 220354757 rs6742231 G C 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.8921+96G>C;VC=Intron;DM=SPEG/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:43:10:0:0:21,21,1:626,647,10:59.96,0.00,-0.01:5.39,0.00,-0.06:54.57,0.00,0.05:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.7,10.2,10.0:0,0,0:0,0,0:86,109,90:61,42,61:39,26,0:NM_005876.4(SPEG) c.8921+96G>C,-:0.35,-:NOT_FOUND,- 2 220355371 . G . . NT END=220355454;NT GT ./. 2 220355529 rs12464085 A G 186 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=133;DB;DBA=NA;PAF=NA;PC=0.843;Gene=SPEG/NM_005876.4/1;CC=c.9236A>G;ProtCh=p.H3079R;VC=Missense;DM=SPEG/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:133:97:0:0:72,61:2305,1965:0.00,185.73:0.00,94.02:0.00,91.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,38.8:0,0:0,0:64,55:84,94:36,33:-,NM_005876.4(SPEG) c.9236A>G (p.His3079Arg):-,0.35:-,0.389533 2 220355679 . G . . NT END=220356515;NT GT ./. 2 220356449 rs6747041 G C 64 nt VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.9386-67G>C;VC=Intron;DM=SPEG/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:43:39:0:0:20,23:670,709:63.66,0.00:52.71,0.00:10.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,2.1:0,0:0,0:60,43:89,108:45,19:NM_005876.4(SPEG) c.9386-67G>C,-:0.35,-:NOT_FOUND,- 2 220356592 . G . . NT END=220356832;NT GT ./. 2 220356632 rs6747090 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SPEG/NM_005876.4/1;CC=c.9461+41C>T;VC=Intron;DM=SPEG/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:23:0:0:26,16:869,461:0.00,41.57:0.00,19.62:0.00,21.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,42.4:0,0:0,0:101,68:50,77:36,46:-,NM_005876.4(SPEG) c.9461+41C>T:-,0.04:-,0.052441 2 220356806 rs907146 C T 179 nt VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SPEG/NM_005876.4/1;CC=c.9462-27C>T;VC=Intron;DM=SPEG/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C,T:51:41:0:0:1,50:32,1576:0.00,179.20:0.00,116.29:0.00,62.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,38.6:0,0:0,0:1,43:132,100:0,27:NM_005876.4(SPEG) c.9462-27C>T,NM_005876.4(SPEG) c.9462-27C>T:0.97,0.97:0.964314,0.964314 2 220356983 . G . . NT END=220357315;NT GT ./. 2 220357509 . A . . NT END=220361076;NT GT ./. 2 220357594 rs1078212 C A 67 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=SPEG/NM_005876.4/1;CC=c.*86C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:48:8:0:0:21,27:708,770:66.57,0.00:9.27,0.00:57.29,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:41.2,14.6:0,0:0,0:134,100:16,51:9,33:NM_005876.4(SPEG) c.*86C>A,-:0.36,-:NOT_FOUND,- 2 220361070 rs5838740 TC T 114 nt VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=14;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:81:67:0:39:42,39:1343,1198:0.00,114.04:0.00,74.11:0.00,39.94:0.00,1.00:0.00,1.00:0.00,1.00:60,70:11.5,9.8:0,0:0,0:78,64:72,75:32,28:-,NM_205847.2(GMPPA) c.-375-u2546delC:-,0.04:-,NOT_FOUND 2 220361205 . G . . NT END=220361530;NT GT ./. 2 220361265 rs2385541 A G 340 nt VT=SNV;PN=T;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=NA;Gene=LOC100996693/NM_001286811.1/1;CC=c.128+61A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:92:46:0:0:91,1:2972,12:340.10,0.17:129.57,0.00:210.54,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.1,92.0:0,0:0,0:104,144:43,-34:28,0:NM_205847.2(GMPPA) c.-375-u2352A>G,NM_205847.2(GMPPA) c.-375-u2352A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 220361344 rs2385540 G A 153 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=LOC100996693/NM_001286811.1/1;CC=c.128+140G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A:40:19:0:0:40:1338:152.85:69.33:83.52:1.00:1.00:1.00:60:68.9:0:0:86:63:35:NM_205847.2(GMPPA) c.-375-u2273G>A,NM_205847.2(GMPPA) c.-375-u2273G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 220361435 rs1567489 C G 253 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=0.001;Gene=LOC100996693/NM_001286811.1/1;CC=c.129-96C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:65:0:0:76:2172:252.76:186.22:66.53:1.00:1.00:1.00:60:56.6:0:0:28:123:19:NM_205847.2(GMPPA) c.-375-u2182C>G,NM_205847.2(GMPPA) c.-375-u2182C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 2 220361486 rs2010592 G A 170 nt VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=NA;Gene=LOC100996693/NM_001286811.1/1;CC=c.129-45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:136:113:0:0:57,79:1825,2414:169.52,0.00:102.43,0.00:67.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.5,23.7:0,0:0,0:38,51:105,96:20,24:NM_205847.2(GMPPA) c.-375-u2131G>A,-:0.37,-:NOT_FOUND,- 2 220361590 rs11437065 T TA 244 PASS VT=INS;SST=Single;DP=186;DB;DBA=NA;PAF=NA;NP=15;PC=1.000;Gene=LOC100996693/NM_001286811.1/1;CC=c.188_189insA;ProtCh=p.V64Gfs*26;VC=FrameShiftIns;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:186:131:83:0:103,83:3084,2594:0.00,243.62:0.00,111.57:0.00,132.05:0.00,1.00:0.00,1.00:0.00,1.00:60,70:13.2,15.7:0,0:0,0:77,81:72,61:31,33:-,NM_205847.2(GMPPA) c.-375-u2027_-375-u2026insA:-,0.06:-,NOT_FOUND 2 220361839 . G . . NT END=220362441;NT GT ./. 2 220362283 rs2010528 C G 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.028;Gene=LOC100996693/NM_001286811.1/1;CC=c.437-159C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:30:30:0:0:12,18:403,511:0.00,50.82:0.00,49.29:0.00,1.53:0.00,1.00:0.00,1.00:0.00,0.87:60,60:10.4,50.3:0,0:0,0:52,33:98,117:24,28:-,NM_205847.2(GMPPA) c.-375-u1334C>G:-,0.37:-,NOT_FOUND 2 220362557 rs12474050 C T 188 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=150;DB;DBA=NA;PAF=NA;PC=0.929;Gene=LOC100996693/NM_001286811.1/1;CC=c.552C>T;ProtCh=p.D184=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:150:82:0:0:84,66:2594,2009:0.00,187.61:0.00,77.20:0.00,110.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,37.4:0,0:0,0:82,78:63,66:32,35:-,XM_003846224.1(LOC100996693) c.174C>T (p.(=)):-,0.38:-,NOT_FOUND 2 220362584 . G . . NT END=220362772;NT GT ./. 2 220362899 rs2029251 C G 449 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.895;Gene=LOC100996693/NM_001286811.1/1;CC=c.705C>G;ProtCh=p.V235=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:121:82:0:0:121:3910:448.51:201.82:246.69:1.00:1.00:1.00:60:40.7:0:0:93:55:30:XM_003846224.1(LOC100996693) c.327C>G (p.(=)),XM_003846224.1(LOC100996693) c.327C>G (p.(=)):0.92,0.92:NOT_FOUND,NOT_FOUND 2 220362912 . A . . NT END=220364697;NT GT ./. 2 220364738 . G . . NT END=220364842;NT GT ./. 2 220364941 . G . . NT END=220366197;NT GT ./. 2 220366302 . G . . NT END=220366572;NT GT ./. 2 220366760 . G . . NT END=220367103;NT GT ./. 2 220366953 rs2385539 G C 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.189;Gene=GMPPA/NM_013335.3/1;CC=c.430-151G>C;VC=Intron;Gene=GMPPA/NM_205847.2/0;CC=c.430-151G>C;VC=Intron;DM=GMPPA/NTP_transferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:22:16:0:0:13,8,1:400,239,10:40.10,0.00,0.18:28.00,0.00,-0.14:12.10,0.00,0.32:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:43.5,0.0,200.0:0,0,0:0,0,0:72,49,85:79,101,61:29,42,0:NM_205847.2(GMPPA) c.430-151G>C,-:0.53,-:NOT_FOUND,- 2 220367164 . G . . NT END=220368804;NT GT ./. 2 220368936 . G . . NT END=220369575;NT GT ./. 2 220369591 . G . . NT END=220369949;NT GT ./. 2 220369646 rs181509860 G A 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=4;Gene=GMPPA/NM_013335.3/1;CC=c.621-304G>A;VC=Intron;Gene=GMPPA/NM_205847.2/0;CC=c.621-304G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:19:0:0:12,25:342,673:29.79,0.00:9.12,0.00:20.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.2,22.1:0,0:0,0:102,93:48,57:15,42:NM_205847.2(GMPPA) c.621-304G>A,-:0.0041,-:NOT_FOUND,- 2 220370085 . G . . NT END=220370179;NT GT ./. 2 220370278 . G . . NT END=220370416;NT GT ./. 2 220370484 . G . . NT END=220370701;NT GT ./. 2 220370599 rs62193808 G T 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=GMPPA/NM_013335.3/1;CC=c.901-103G>T;VC=Intron;Gene=GMPPA/NM_205847.2/0;CC=c.901-103G>T;VC=Intron;DM=GMPPA/Hexapep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:34:0:0:16,25:531,803:0.00,80.31:0.00,58.29:0.00,22.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,33.0:0,0:0,0:44,44:106,107:26,37:-,NM_205847.2(GMPPA) c.901-103G>T:-,0.04:-,NOT_FOUND 2 220370795 . G . . NT END=220370975;NT GT ./. 2 220371145 . G . . NT END=220371419;NT GT ./. 2 220371181 rs10932808 T A 249 nt VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=GMPPA/NM_013335.3/1;CC=c.1162+37T>A;VC=Intron;Gene=GMPPA/NM_205847.2/0;CC=c.1162+37T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:69:27:0:0:69:2157:248.50:63.48:185.02:1.00:1.00:1.00:60:43.9:0:0:108:40:22:NM_205847.2(GMPPA) c.1162+37T>A,NM_205847.2(GMPPA) c.1162+37T>A:0.96,0.96:0.954811,0.954811 2 220371521 . G . . NT END=220379065;NT GT ./. 2 220379560 rs3731909 C G 668 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=183;DB;DBA=NA;PAF=NA;PC=0.053;Gene=ASIC4/NM_182847.2/1;CC=c.495C>G;ProtCh=p.A165=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:183:119:0:0:183:5812:668.07:293.92:374.15:1.00:1.00:1.00:60:44.2:0:0:77:68:31:NM_182847.2(ASIC4) c.495C>G (p.(=)),NM_182847.2(ASIC4) c.495C>G (p.(=)):0.57,0.57:0.503999,0.503999 2 220380029 . G . . NT END=220396479;NT GT ./. 2 220380125 rs1872858 G A 156 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ASIC4/NM_182847.2/1;CC=c.963+97G>A;VC=Intron;DM=ASIC4/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:A,C:46:7:0:0:45,1:1350,5:155.87,0.05:16.50,0.00:139.37,0.05:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,54.0:0,0:0,0:99,69:51,82:33,0:NM_182847.2(ASIC4) c.963+97G>A,NM_182847.2(ASIC4) c.963+97G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 2 220396625 . G . . NT END=220396722;NT GT ./. 2 220396851 . G . . NT END=220397036;NT GT ./. 2 220397200 . G . . NT END=220397604;NT GT ./. 2 220397662 . G . . NT END=220399892;NT GT ./. 2 220397811 rs6731344 T C 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.140;Gene=ASIC4/NM_182847.2/1;CC=c.1399+612T>C;VC=Intron;DM=ASIC4/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:0:0:0:7:179:21.14:0.00:21.14:1.00:0.00:1.00:60:47.0:0:0:75:75:41:NM_182847.2(ASIC4) c.1399+612T>C,NM_182847.2(ASIC4) c.1399+612T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 220399638 rs71040464 A AC 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=170;NP=6;Gene=ASIC4/NM_182847.2/1;CC=c.1400-246dupC;VC=Intron;DM=ASIC4/ASC;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:A,AC:4:3:3:0:1,3:12,100:0.00,10.48:0.00,6.83:0.00,3.65:0.00,0.85:0.00,0.99:0.00,0.83:60,60:0.0,0.0:0,0:0,0:114,94:37,57:0,20:-,NM_182847.2(ASIC4) c.1400-255_1400-254insC:-,NOT_FOUND:-,NOT_FOUND 2 220400047 . g . . NT END=220401787;NT GT ./. 2 220400267 rs72523909 TGTGA T 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.006;Gene=ASIC4/NM_182847.2/1;CC=c.1553+225_1553+228delAGTG;VC=Intron;DM=ASIC4/ASC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:TGTGA,T:4:0:0:3:1,3:24,93:0.00,9.76:0.00,0.00:0.00,9.76:0.00,0.85:0.00,0.00:0.00,0.85:60,60:83.0,31.3:0,0:0,0:114,112:36,38:0,28:-,NM_182847.2(ASIC4) c.1553+222_1553+225delGTGA:-,0.18:-,NOT_FOUND 2 220401751 rs2385538 G A 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=ASIC4/NM_182847.2/1;CC=c.1554-37G>A;VC=Intron;DM=ASIC4/ASC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:28:0:0:17,15:534,503:51.86,0.00:37.68,0.00:14.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,4.5:0,0:0,0:58,32:93,116:33,22:NM_182847.2(ASIC4) c.1554-37G>A,-:0.4,-:0.440873,- 2 220401880 . G . . NT END=220401963;NT GT ./. 2 220402044 . G . . NT END=220402353;NT GT ./. 2 220402459 . G . . NT END=220402654;NT GT ./. 2 220402624 rs11689270 G T 177 nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=ASIC4/NM_182847.2/1;CC=c.1831-31G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:T:47:41:0:0:47:1548:177.11:114.86:62.25:1.00:1.00:1.00:60:64.0:0:0:59:92:28:NM_182847.2(ASIC4) c.1831-31G>T,NM_182847.2(ASIC4) c.1831-31G>T:0.74,0.74:0.723912,0.723912 2 220402671 rs11689281 G T 70 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.940;Gene=ASIC4/NM_182847.2/1;CC=c.1847G>T;ProtCh=p.R616L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:66:56:0:0:42,24:1262,777:0.00,70.42:0.00,51.99:0.00,18.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.8,95.2:0,0:0,0:73,62:75,84:30,35:-,NM_182847.2(ASIC4) c.1847G>T (p.Arg616Leu):-,0.52:-,0.462538 2 220402680 rs11695248 T C 71 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ASIC4/NM_182847.2/1;CC=c.1856T>C;ProtCh=p.V619A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:67:56:0:0:24,2,41:779,21,1222:70.77,0.02,0.00:49.63,0.29,0.00:21.14,-0.26,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:93.8,51.5,34.5:0,0,0:0,0,0:71,94,78:75,56,67:41,47,27:NM_182847.2(ASIC4) c.1856T>C (p.Val619Ala),-:0.57,-:0.540852,- 2 220402769 . G . . NT END=220404104;NT GT ./. 2 220404381 rs1976616 A G 509 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=142;DB;DBA=NA;PAF=NA;PC=0.998;Gene=CHPF/NM_001195731.1/0;CC=c.1566T>C;ProtCh=p.Y522=;VC=Silent;Gene=CHPF/NM_024536.5/1;CC=c.2052T>C;ProtCh=p.Y684=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:142:94:0:0:142:4415:508.63:260.70:247.93:1.00:1.00:1.00:60:40.8:0:0:60:86:34:NM_024536.5(CHPF) c.=,NM_024536.5(CHPF) c.=:0.98,0.98:0.978388,0.978388 2 220404648 rs1043833 C T 176 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=147;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CHPF/NM_001195731.1/0;CC=c.1299G>A;ProtCh=p.L433=;VC=Silent;Gene=CHPF/NM_024536.5/1;CC=c.1785G>A;ProtCh=p.L595=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:147:100:0:0:83,64:2790,1890:0.00,175.69:0.00,102.07:0.00,73.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,52.7:0,0:0,0:69,79:77,66:34,28:-,NM_024536.5(CHPF) c.1785G>A (p.(=)):-,0.36:-,0.389521 2 220404726 rs1043832 G A 243 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=164;DB;DBA=NA;PAF=NA;PC=0.104;Gene=CHPF/NM_001195731.1/0;CC=c.1221C>T;ProtCh=p.H407=;VC=Silent;Gene=CHPF/NM_024536.5/1;CC=c.1707C>T;ProtCh=p.H569=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:164:105:0:0:79,2,83:2541,23,2605:243.05,-0.09,0.00:143.95,-0.22,0.00:99.10,0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.9,179.5,13.0:0,0,0:0,0,0:52,86,84:95,64,60:33,9,35:NM_024536.5(CHPF) c.1707C>T (p.(=)),-:0.36,-:0.389889,- 2 220405230 rs6436154 G A 214 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=132;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CHPF/NM_001195731.1/0;CC=c.717C>T;ProtCh=p.H239=;VC=Silent;Gene=CHPF/NM_024536.5/1;CC=c.1203C>T;ProtCh=p.H401=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:132:91:0:0:69,63:2205,1955:213.77,0.00:101.72,0.00:112.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,20.3:0,0:0,0:91,80:57,69:31,38:NM_024536.5(CHPF) c.1203C>T (p.(=)),-:0.36,-:0.394939,- 2 220405321 rs6436155 T C 345 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=NA;PC=0.060;Gene=CHPF/NM_001195731.1/0;CC=c.626A>G;ProtCh=p.Q209R;VC=Missense;Gene=CHPF/NM_024536.5/1;CC=c.1112A>G;ProtCh=p.Q371R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:101:59:0:0:101:2975:345.03:149.75:195.28:1.00:1.00:1.00:60:45.2:0:0:79:69:32:NM_024536.5(CHPF) c.=,NM_024536.5(CHPF) c.=:0.96,0.96:0.977549,0.977549 2 220405365 . C . . NT END=220405667;NT GT ./. 2 220405848 . C . . NT END=220406337;NT GT ./. 2 220406088 rs34272434 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=CHPF/NM_001195731.1/0;CC=c.403-241A>G;VC=Intron;Gene=CHPF/NM_024536.5/1;CC=c.889-241A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:6:0:0:6,8:194,238:18.11,0.00:9.30,0.00:8.81,0.00:0.96,0.00:0.95,0.00:0.98,0.00:60,60:58.3,8.2:0,0:0,0:61,21:89,129:38,14:NM_024536.5(CHPF) c.889-241A>G,-:0.36,-:NOT_FOUND,- 2 220406144 rs35417960 A G 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=CHPF/NM_001195731.1/0;CC=c.402+194T>C;VC=Intron;Gene=CHPF/NM_024536.5/1;CC=c.888+194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:16:0:0:12,8:404,230:0.00,20.96:0.00,18.05:0.00,2.91:0.00,0.99:0.00,1.00:0.00,0.87:60,60:27.6,57.2:0,0:0,0:47,62:103,87:28,36:-,NM_024536.5(CHPF) c.888+194T>C:-,0.19:-,NOT_FOUND 2 220406239 rs13004994 T G 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=CHPF/NM_001195731.1/0;CC=c.402+99A>C;VC=Intron;Gene=CHPF/NM_024536.5/1;CC=c.888+99A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:28:28:0:0:11,17:330,501:30.08,0.00:30.08,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.4,23.1:0,0:0,0:105,33:46,116:20,26:NM_024536.5(CHPF) c.888+99A>C,-:0.57,-:NOT_FOUND,- 2 220406722 rs3731912 T C 286 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=181;DB;DBA=NA;PAF=NA;PC=1.000;Gene=CHPF/NM_001195731.1/0;CC=c.18A>G;ProtCh=p.L6=;VC=Silent;Gene=CHPF/NM_024536.5/1;CC=c.504A>G;ProtCh=p.L168=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:181:128:0:0:1,92,88:11,2961,2768:-0.15,285.85,0.00:-0.05,162.30,0.00:-0.10,123.55,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:104.0,39.5,8.3:0,0,0:0,0,0:32,74,56:119,67,88:0,32,24:NM_024536.5(CHPF) c.504A>G (p.(=)),-:0.72,-:0.707358,- 2 220406912 . C . . NT END=220407634;NT GT ./. 2 220406944 rs7581251 G A 158 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.004;Gene=CHPF/NM_001195731.1/0;CC=c.-172-33C>T;VC=Intron;Gene=CHPF/NM_024536.5/1;CC=c.315-33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A,C:46:25:0:0:44,2:1379,11:157.95,0.22:83.95,0.00:74.00,0.22:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,105.0:0,0:0,0:129,95:19,45:14,35:NM_024536.5(CHPF) c.315-33C>T,NM_024536.5(CHPF) c.315-33C>T:0.97,0.97:0.977589,0.977589 2 220407736 rs11685912 A G 257 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=NA;PC=0.129;Gene=CHPF/NM_001195731.1/0;CC=c.-274T>C;VC=5UTR;Gene=CHPF/NM_024536.5/1;CC=c.314+211T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:146:110:0:0:66,1,78,1:2049,9,2626,9:0.00,-0.14,256.67,-0.14:0.00,-0.11,145.90,-0.06:0.00,-0.03,110.77,-0.09:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:8.4,167.0,42.6,75.0:0,0,0,0:0,0,0,0:54,54,82,109:88,89,62,42:31,0,33,0:-,NM_024536.5(CHPF) c.314+211T>C:-,0.52:-,NOT_FOUND 2 220407820 . A . . NT END=220407946;NT GT ./. 2 220408261 . G . . NT END=220409449;NT GT ./. 2 220409616 . G . . NT END=220412227;NT GT ./. 2 220409701 rs10932811 C T 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=TMEM198/NM_001303098.1/1;CC=c.166+86C>T;VC=Intron;Gene=TMEM198/NM_001005209.2/0;CC=c.166+86C>T;VC=Intron;DM=TMEM198/DUF4203 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:10:0:0:19,26:550,845:0.00,83.64:0.00,12.87:0.00,70.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.5,41.5:0,0:0,0:107,99:44,50:27,37:-,NM_001005209.1(TMEM198) c.166+86C>T:-,0.39:-,NOT_FOUND 2 220412256 rs8179770 T C 468 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TMEM198/NM_001303098.1/1;CC=c.195T>C;ProtCh=p.F65=;VC=Silent;Gene=TMEM198/NM_001005209.2/0;CC=c.195T>C;ProtCh=p.F65=;VC=Silent;DM=TMEM198/DUF4203 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:126:111:0:0:125,1:4087,27:467.78,1.11:329.49,1.11:138.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.5,27.0:0,0:0,0:61,64:85,87:40,0:NM_001005209.1(TMEM198) c.=,NM_001005209.1(TMEM198) c.=:0.98,0.98:0.971475,0.971475 2 220412804 . G . . NT END=220413873;NT GT ./. 2 220413661 rs12996466 C T 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=TMEM198/NM_001303098.1/1;CC=c.743-213C>T;VC=Intron;Gene=TMEM198/NM_001005209.2/0;CC=c.743-213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:254:29.21:29.21:0.00:1.00:1.00:0.00:60:47.5:0:0:42:108:15:NM_001005209.1(TMEM198) c.743-213C>T,NM_001005209.1(TMEM198) c.743-213C>T:0.94,0.94:NOT_FOUND,NOT_FOUND 2 220414016 rs6436156 C T 428 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=0.999;Gene=TMEM198/NM_001303098.1/1;CC=c.885C>T;ProtCh=p.D295=;VC=Silent;Gene=TMEM198/NM_001005209.2/0;CC=c.885C>T;ProtCh=p.D295=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:117:78:0:0:1,116:29,3756:0.00,428.35:0.00,207.70:0.00,220.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,50.3:1,0:0,0:148,74:3,72:0,33:NM_001005209.1(TMEM198) c.=,NM_001005209.1(TMEM198) c.=:0.9,0.9:0.907182,0.907182 2 220414019 rs13023533 T C 159 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;PC=0.071;Gene=TMEM198/NM_001303098.1/1;CC=c.888T>C;ProtCh=p.P296=;VC=Silent;Gene=TMEM198/NM_001005209.2/0;CC=c.888T>C;ProtCh=p.P296=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:117:77:0:0:1,55,61:12,1679,2087:-0.10,159.17,0.00:-0.13,67.00,0.00:0.03,92.17,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:46.0,65.2,35.6:0,0,0:0,0,0:73,81,82:78,56,69:0,34,34:NM_001005209.1(TMEM198) c.888T>C (p.(=)),-:0.43,-:0.173228,- 2 220414077 . G . . NT END=220414438;NT GT ./. 2 220414577 . C . . NT END=220415546;NT GT ./. 2 220415591 . C . . NT END=220415595;NT GT ./. 2 220415595 rs146790993 GGA G 161 PASS VT=DEL;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=1454;PC=0.209;Gene=OBSL1/NM_015311.2/1;CC=c.5684-33_5684-32delTC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGA,G:108:92:0:52:56,52:1701,1682:0.00,160.59:0.00,100.16:0.00,60.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,31.2:1,0:0,0:86,75:63,72:28,27:-,NM_015311.2(OBSL1) c.5684-33_5684-32delTC:-,0.42:-,0.438145 2 220415646 rs1043582 T C 233 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=124;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.5684-82A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:124:88:0:0:70,54:2366,1624:233.09,0.00:108.45,0.00:124.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.9,41.3:0,0:0,0:75,67:53,79:38,39:NM_015311.2(OBSL1) c.5684-82A>G,-:0.42,-:NOT_FOUND,- 2 220415717 rs3731918 G A 163 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.5684-153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:122:70:0:0:51,71:1746,2250:162.94,0.00:68.39,0.00:94.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.3,58.1:0,0:0,0:64,77:75,73:35,33:NM_015311.2(OBSL1) c.5684-153C>T,-:0.51,-:NOT_FOUND,- 2 220415752 rs6745782 C T 444 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.5684-188G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:121:67:0:0:121:3865:444.02:187.93:256.09:1.00:1.00:1.00:60:68.3:0:0:81:63:32:NM_015311.2(OBSL1) c.5684-188G>A,NM_015311.2(OBSL1) c.5684-188G>A:0.94,0.94:NOT_FOUND,NOT_FOUND 2 220415834 rs6717394 A G 420 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=114;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.5684-270T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:114:70:0:0:1,113:8,3675:0.00,419.78:0.00,197.50:0.00,222.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:64.0,54.3:0,0:0,0:89,59:46,88:0,38:NM_015311.2(OBSL1) c.5684-270T>C,NM_015311.2(OBSL1) c.5684-270T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 220416008 . C . . NT END=220416242;NT GT ./. 2 220416164 rs6761575 T C 204 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.5683+87A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C,T:59:41:0:0:58,1:1778,10:203.55,0.00:122.54,0.00:81.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,115.0:0,0:0,0:47,88:104,34:31,0:NM_015311.2(OBSL1) c.5683+87A>G,NM_015311.2(OBSL1) c.5683+87A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 220416521 . C . . NT END=220416832;NT GT ./. 2 220416570 rs4672931 C T 180 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.5414-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:T:49:19:0:0:49:1571:180.43:51.59:128.84:1.00:1.00:1.00:60:70.1:0:0:107:42:22:NM_015311.2(OBSL1) c.5414-50G>A,NM_015311.2(OBSL1) c.5414-50G>A:0.93,0.93:0.944576,0.944576 2 220416591 rs4672932 C T 140 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.003;Gene=OBSL1/NM_015311.2/1;CC=c.5414-71G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:17:0:0:40:1212:140.16:39.77:100.39:1.00:1.00:1.00:60:73.1:0:0:119:29:21:NM_015311.2(OBSL1) c.5414-71G>A,NM_015311.2(OBSL1) c.5414-71G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 2 220416803 rs4672933 A T 150 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.5413+31T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:35:0:0:40:1310:149.96:111.12:38.83:1.00:1.00:1.00:60:41.4:0:0:43:105:28:NM_015311.2(OBSL1) c.5413+31T>A,NM_015311.2(OBSL1) c.5413+31T>A:0.98,0.98:0.982029,0.982029 2 220416939 . C . . NT END=220417256;NT GT ./. 2 220416942 rs34490902 G C 92 nt VT=SNV;PN=G;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.004;Gene=OBSL1/NM_015311.2/1;CC=c.5309-4C>G;VC=Intron;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:70:47:0:0:32,38:982,1236:92.42,0.00:33.26,0.00:59.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.2,25.1:0,0:0,0:103,95:37,35:20,33:NM_015311.2(OBSL1) c.5309-4C>G,-:0.43,-:0.435332,- 2 220416967 rs4672934 C T 90 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.009;Gene=OBSL1/NM_015311.2/1;CC=c.5309-29G>A;VC=Intron;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:33:0:0:26,29:781,922:0.00,89.51:0.00,36.20:0.00,53.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.3,41.7:0,0:0,0:114,88:31,55:22,31:-,NM_015311.2(OBSL1) c.5309-29G>A:-,0.5:-,0.453718 2 220417228 rs60549465 G T 113 nt VT=SNV;PN=G;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=0.397;Gene=OBSL1/NM_015311.2/1;CC=c.5308+30C>A;VC=Intron;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:82:73:0:0:43,39:1338,1192:0.00,113.16:0.00,70.28:0.00,42.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,73.9:0,0:0,0:45,37:101,110:30,24:-,NM_015311.2(OBSL1) c.5308+30C>A:-,0.4:-,0.381115 2 220417266 rs59332477 C T 220 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=NA;PC=0.997;Gene=OBSL1/NM_015311.2/1;CC=c.5300G>A;ProtCh=p.R1767Q;VC=Missense;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:133:114:0:0:63,70:2075,2264:0.00,219.78:0.00,133.93:0.00,85.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,54.1:0,0:0,0:49,36:92,105:27,22:-,NM_015311.2(OBSL1) c.5300G>A (p.Arg1767Gln):-,0.42:-,0.420033 2 220417420 . C . . NT END=220417588;NT GT ./. 2 220417747 . C . . NT END=220418294;NT GT ./. 2 220417911 rs6436157 T C 136 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4990-165A>G;VC=Intron;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C,G:44:2:0:0:43,1:1162,10:135.91,0.20:3.87,0.00:132.04,0.20:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,204.0:0,0:0,0:87,114:64,35:29,0:NM_015311.2(OBSL1) c.4990-165A>G,NM_015311.2(OBSL1) c.4990-165A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 2 220418409 . C . . NT END=220419194;NT GT ./. 2 220419236 rs10932813 T C 596 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=170;DB;DBA=NA;PAF=NA;NP=3334;Gene=OBSL1/NM_015311.2/1;CC=c.4836A>G;ProtCh=p.T1612=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:170:133:0:0:169,1:5182,11:596.39,0.00:371.43,0.00:224.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,149.0:0,0:0,0:67,35:83,113:29,0:NM_015311.2(OBSL1) c.4836A>G (p.(=)),NM_015311.2(OBSL1) c.4836A>G (p.(=)):0.99,0.99:0.987749,0.987749 2 220419339 rs10932814 T C 573 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=168;DB;DBA=NA;PAF=NA;PC=0.016;Gene=OBSL1/NM_015311.2/1;CC=c.4733A>G;ProtCh=p.Q1578R;VC=Missense;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:168:109:0:0:1,167:11,4951:0.08,573.35:0.00,272.75:0.08,300.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:161.0,50.0:0,0:0,0:53,88:98,59:0,34:NM_015311.2(OBSL1) c.4733A>G (p.Gln1578Arg),NM_015311.2(OBSL1) c.4733A>G (p.Gln1578Arg):0.97,0.97:0.961385,0.961385 2 220419463 . C . . NT END=220420339;NT GT ./. 2 220419553 rs12617530 C T 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4610-91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:50:13:0:0:1,29,20:11,885,623:-0.03,0.00,57.45:-0.04,0.00,11.63:0.01,0.00,45.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:64.0,8.3,33.4:0,0,0:0,0,0:22,120,118:126,29,32:0,21,20:-,NM_015311.2(OBSL1) c.4610-91G>A:-,0.23:-,NOT_FOUND 2 220419669 rs4674410 G A 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4610-207C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:233:27.50:0.00:27.50:1.00:0.00:1.00:60:68.3:0:0:112:39:33:NM_015311.2(OBSL1) c.4610-207C>T,NM_015311.2(OBSL1) c.4610-207C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 2 220419709 rs4672935 A G 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.002;Gene=OBSL1/NM_015311.2/1;CC=c.4610-247T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:62.0:0:0:70:80:25:NM_015311.2(OBSL1) c.4610-247T>C,NM_015311.2(OBSL1) c.4610-247T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 220420173 rs58273134 AT A 23 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=9;PC=0.009;Gene=OBSL1/NM_015311.2/1;CC=c.4609+568delA;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.*545delA;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:AT,A:9:9:0:7:2,7:56,213:0.00,22.57:0.00,22.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:39.5,2.3:0,0:0,0:61,69:90,82:35,39:-,NM_015311.2(OBSL1) c.4609+568delA:-,NOT_FOUND:-,NOT_FOUND 2 220420553 rs1056908 C T 96 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=NA;PC=0.534;Gene=OBSL1/NM_015311.2/1;CC=c.4609+189G>A;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.*166G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:87:50:0:0:54,33:1746,1055:0.00,96.16:0.00,57.93:0.00,38.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,36.3:0,0:0,0:84,84:66,67:43,42:-,NM_015311.2(OBSL1) c.4609+189G>A:-,0.5:-,NOT_FOUND 2 220420785 rs3087971 G A 264 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4566C>T;ProtCh=p.C1522=;VC=Silent;Gene=OBSL1/NM_001173431.1/0;CC=c.4566C>T;ProtCh=p.C1522=;VC=Silent;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:167:110:0:0:88,1,78:2716,12,2476:263.66,-0.10,0.00:136.76,-0.12,0.00:126.90,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.7,89.0,8.4:0,0,0:0,0,0:77,92,58:69,58,88:32,0,32:NM_015311.2(OBSL1) c.4566C>T (p.(=)),-:0.26,-:0.259968,- 2 220420956 rs10932816 A G 718 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=201;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4395T>C;ProtCh=p.D1465=;VC=Silent;Gene=OBSL1/NM_001173431.1/0;CC=c.4395T>C;ProtCh=p.D1465=;VC=Silent;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:201:125:0:0:2,199:18,6268:0.00,717.68:0.00,300.49:0.00,417.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:107.0,39.4:0,0:0,0:82,80:68,69:9,36:NM_015311.2(OBSL1) c.4395T>C (p.(=)),NM_015311.2(OBSL1) c.4395T>C (p.(=)):0.97,0.97:0.969375,0.969375 2 220421015 . C . . NT END=220421174;NT GT ./. 2 220421417 rs1983210 C G 177 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=NA;PC=1.000;Gene=OBSL1/NM_015311.2/1;CC=c.4095G>C;ProtCh=p.E1365D;VC=Missense;Gene=OBSL1/NM_001173431.1/0;CC=c.4095G>C;ProtCh=p.E1365D;VC=Missense;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:130:73:0:0:71,59:2415,1879:0.00,177.07:0.00,65.40:0.00,111.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.4,38.9:0,0:0,0:75,80:69,68:35,27:-,NM_015311.2(OBSL1) c.4095G>C (p.Glu1365Asp):-,0.7:-,0.701199 2 220421446 . C . . NT END=220422064;NT GT ./. 2 220421479 rs13010015 A G 159 nt VT=SNV;PN=G;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4067-34T>C;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.4067-34T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:39:0:0:42,51:1401,1624:0.00,158.92:0.00,50.49:0.00,108.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.0,39.0:0,0:0,0:104,98:47,42:31,28:-,NM_015311.2(OBSL1) c.4067-34T>C:-,0.27:-,0.252055 2 220421639 rs12476090 A G 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4067-194T>C;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.4067-194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:0:0:0:17:537:61.77:0.00:61.77:1.00:0.00:1.00:60:59.8:0:0:110:41:29:NM_015311.2(OBSL1) c.4067-194T>C,NM_015311.2(OBSL1) c.4067-194T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 220421686 rs4674411 A T 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.4067-241T>A;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.4067-241T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:1:0:0:8:238:27.56:3.78:23.78:1.00:1.00:1.00:60:71.1:0:0:98:51:28:NM_015311.2(OBSL1) c.4067-241T>A,NM_015311.2(OBSL1) c.4067-241T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 220422400 rs2278200 C G 246 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.3791-60G>C;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.3791-60G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:155:104:0:0:77,78:2389,2550:0.00,245.59:0.00,130.10:0.00,115.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,41.6:0,0:0,0:76,79:68,69:34,36:-,NM_015311.2(OBSL1) c.3791-60G>C:-,0.44:-,NOT_FOUND 2 220422774 rs2278201 A G 180 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.3561T>C;ProtCh=p.P1187=;VC=Silent;Gene=OBSL1/NM_001173431.1/0;CC=c.3561T>C;ProtCh=p.P1187=;VC=Silent;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:131:78:0:0:69,62:2295,1898:0.00,179.90:0.00,84.57:0.00,95.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,41.3:0,0:0,0:78,72:70,78:35,30:-,NM_015311.2(OBSL1) c.3561T>C (p.(=)):-,0.45:-,0.455834 2 220422833 . C . . NT END=220422905;NT GT ./. 2 220423182 . C . . NT END=220423945;NT GT ./. 2 220423367 rs13401387 C T 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.3227-186G>A;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.3227-186G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:9,12:263,343:0.00,33.79:0.00,0.00:0.00,33.79:0.00,1.00:0.00,0.00:0.00,1.00:60,60:3.8,47.5:0,0:0,0:73,124:78,27:26,12:-,NM_015311.2(OBSL1) c.3227-186G>A:-,0.44:-,NOT_FOUND 2 220423704 rs10208534 A G 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.3226+243T>C;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.3226+243T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:6:6:0:0:2,4:65,117:0.00,11.95:0.00,11.95:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,38.2:0,0:0,0:54,54:95,96:45,26:-,NM_015311.2(OBSL1) c.3226+243T>C:-,0.45:-,NOT_FOUND 2 220424220 . C . . NT END=220427122;NT GT ./. 2 220424487 rs1039900 G A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.2954-268C>T;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.2954-268C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:9:0:0:0:6,3:186,89:18.95,0.00:0.00,0.00:18.95,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:46.5,24.0:0,0:0,0:121,105:28,46:10,10:NM_015311.2(OBSL1) c.2954-268C>T,-:0.45,-:NOT_FOUND,- 2 220427347 rs10804275 G T 176 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=141;DB;DBA=NA;PAF=NA;PC=0.030;Gene=OBSL1/NM_015311.2/1;CC=c.2730C>A;ProtCh=p.A910=;VC=Silent;Gene=OBSL1/NM_001173431.1/0;CC=c.2730C>A;ProtCh=p.A910=;VC=Silent;Gene=OBSL1/NM_001173408.1/0;CC=c.2730C>A;ProtCh=p.A910=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:141:69:0:0:83,58:2586,1898:0.00,175.95:0.00,50.69:0.00,125.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,61.7:0,0:0,0:83,97:67,53:32,19:-,NM_015311.2(OBSL1) c.2730C>A (p.(=)):-,0.21:-,0.210088 2 220427395 rs3183099 G A 110 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=109;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.2682C>T;ProtCh=p.D894=;VC=Silent;Gene=OBSL1/NM_001173431.1/0;CC=c.2682C>T;ProtCh=p.D894=;VC=Silent;Gene=OBSL1/NM_001173408.1/0;CC=c.2682C>T;ProtCh=p.D894=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:47:0:0:38,71:1225,2273:110.02,0.00:27.07,0.00:82.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.6,7.9:0,0:0,0:127,83:23,63:18,39:NM_015311.2(OBSL1) c.2682C>T (p.(=)),-:0.2,-:0.192088,- 2 220427397 . C . . NT END=220428075;NT GT ./. 2 220427428 rs55904205 GA G 51 nt VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=195;PC=0.002;Gene=OBSL1/NM_015311.2/1;CC=c.2681-33delT;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.2681-33delT;VC=Intron;Gene=OBSL1/NM_001173408.1/0;CC=c.2681-33delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:74:26:0:19:55,19:1782,603:0.00,51.07:0.00,12.10:0.00,38.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.8,65.4:0,0:0,0:89,108:51,42:32,16:-,NM_015311.2(OBSL1) c.2681-33delT:-,0.2:-,0.208828 2 220427996 rs11904583 T C 196 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.2680+81A>G;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.2680+81A>G;VC=Intron;Gene=OBSL1/NM_001173408.1/0;CC=c.2680+81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:C:55:52:0:0:55:1702:196.30:175.13:21.17:1.00:1.00:1.00:60:46.1:0:0:57:94:24:NM_015311.2(OBSL1) c.2680+81A>G,NM_015311.2(OBSL1) c.2680+81A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 220428350 . C . . NT END=220429962;NT GT ./. 2 220428570 rs112141828 A G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.2408-221T>C;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.2408-221T>C;VC=Intron;Gene=OBSL1/NM_001173408.1/0;CC=c.2408-221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:13:0:0:0:9,4:257,138:0.00,12.24:0.00,0.00:0.00,12.24:0.00,0.79:0.00,0.00:0.00,0.79:60,60:7.1,37.2:0,0:0,0:98,92:52,58:30,24:-,NM_015311.2(OBSL1) c.2408-221T>C:-,0.03:-,NOT_FOUND 2 220430203 rs1039898 C T 239 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=158;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.2168G>A;ProtCh=p.R723K;VC=Missense;Gene=OBSL1/NM_001173431.1/0;CC=c.2168G>A;ProtCh=p.R723K;VC=Missense;Gene=OBSL1/NM_001173408.1/0;CC=c.2168G>A;ProtCh=p.R723K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:158:92:0:0:83,75:2809,2506:0.00,238.90:0.00,91.17:0.00,147.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,41.3:0,0:0,0:79,95:67,52:35,27:-,NM_015311.2(OBSL1) c.2168G>A (p.Arg723Lys):-,0.82:-,0.828228 2 220430237 . C . . NT END=220431550;NT GT ./. 2 220431849 . C . . NT END=220431993;NT GT ./. 2 220431919 rs4674412 A G 260 nt VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=OBSL1/NM_015311.2/1;CC=c.1838-71T>C;VC=Intron;Gene=OBSL1/NM_001173431.1/0;CC=c.1838-71T>C;VC=Intron;Gene=OBSL1/NM_001173408.1/0;CC=c.1838-71T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:72:45:0:0:71,1:2271,11:260.34,0.17:134.72,0.17:125.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,148.0:0,0:0,0:86,144:63,7:40,0:NM_015311.2(OBSL1) c.1838-71T>C,NM_015311.2(OBSL1) c.1838-71T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 220432298 . C . . NT END=220432438;NT GT ./. 2 220432692 . C . . NT END=220432775;NT GT ./. 2 220432957 rs35009641 G A 183 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=NA;PC=0.995;Gene=OBSL1/NM_015311.2/1;CC=c.1102C>T;ProtCh=p.R368C;VC=Missense;Gene=OBSL1/NM_001173431.1/0;CC=c.1102C>T;ProtCh=p.R368C;VC=Missense;Gene=OBSL1/NM_001173408.1/0;CC=c.1102C>T;ProtCh=p.R368C;VC=Missense;DM=OBSL1/I-set;DM=OBSL1/I-set;DM=OBSL1/I-set;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:120:57:0:0:58,62:1916,1911:183.16,0.00:52.76,0.00:130.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.1,14.0:0,0:0,0:73,89:76,61:37,31:NM_015311.2(OBSL1) c.1102C>T (p.Arg368Cys),-:0.03,-:0.038569,- 2 220433047 . C . . NT END=220434941;NT GT ./. 2 220435034 rs10180675 A G 204 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=162;DB;DBA=NA;PAF=NA;PC=0.176;Gene=OBSL1/NM_015311.2/1;CC=c.921T>C;ProtCh=p.L307=;VC=Silent;Gene=OBSL1/NM_001173431.1/0;CC=c.921T>C;ProtCh=p.L307=;VC=Silent;Gene=OBSL1/NM_001173408.1/0;CC=c.921T>C;ProtCh=p.L307=;VC=Silent;DM=OBSL1/I-set;DM=OBSL1/I-set;DM=OBSL1/I-set;DM=OBSL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:162:125:0:0:96,66:2901,2200:0.00,204.00:0.00,142.54:0.00,61.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,40.7:0,0:0,0:74,64:71,83:38,41:-,NM_015311.2(OBSL1) c.921T>C (p.(=)):-,0.82:-,0.820849 2 220435955 . C . . NT END=220437096;NT GT ./. 2 220436973 rs11893842 A G 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.603;Gene=INHA/NM_002191.3/1;CC=c.-124A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:37:36:0:0:18,1,18:556,22,569:0.00,0.92,54.65:0.00,0.95,50.73:0.00,-0.03,3.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:22.2,166.0,61.6:0,0,0:0,0,0:58,119,83:93,30,65:14,0,44:-,NM_002191.3(INHA) c.-124A>G:-,0.44:-,NOT_FOUND 2 220437081 rs35118453 C T 177 nt VT=SNV;PN=G;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=NA;PC=0.001;Gene=INHA/NM_002191.3/1;CC=c.-16C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:122:100:0:0:60,1,61:2029,18,1845:0.00,0.19,177.07:0.00,0.26,106.34:0.00,-0.08,70.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.1,82.0,44.3:0,0,0:0,0,0:54,53,56:90,98,91:33,0,30:-,NM_002191.3(INHA) c.-16C>T:-,0.19:-,0.182147 2 220437365 . G . . NT END=220439415;NT GT ./. 2 220439678 rs12720063 C T 163 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=NA;Gene=INHA/NM_002191.3/1;CC=c.531C>T;ProtCh=p.A177=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:145:88:0:0:90,1,54:2764,23,1783:0.00,0.44,162.69:0.00,-0.15,54.31:0.00,0.59,108.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.7,129.0,45.0:0,0,0:0,0,0:82,30,78:66,120,67:36,0,41:-,NM_002191.3(INHA) c.531C>T (p.(=)):-,0.19:-,0.173843 2 220440249 . G . . NT END=220462638;NT GT ./. 2 220462640 rs681747 G T 295 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=0.001;Gene=STK11IP/NM_052902.3/1;CC=c.-32G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:84:64:0:0:1,83:12,2575:0.00,294.91:0.00,162.44:0.00,132.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,43.8:0,0:0,0:129,65:21,77:0,33:NM_052902.2(STK11IP) c.=,NM_052902.2(STK11IP) c.=:0.86,0.86:0.836647,0.836647 2 220462646 . G . . NT END=220462815;NT GT ./. 2 220462903 . G . . NT END=220465956;NT GT ./. 2 220466163 . G . . NT END=220466362;NT GT ./. 2 220466199 rs620698 G T 224 nt VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.267+37G>T;VC=Intron;DM=STK11IP/LIP1;DM=STK11IP/LIP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C,T:65:32:0:0:1,64:35,1938:2.16,223.68:2.16,96.81:0.00,126.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,38.5:0,0:0,0:110,87:41,62:0,42:NM_052902.2(STK11IP) c.300+37G>T,NM_052902.2(STK11IP) c.300+37G>T:0.83,0.83:0.808231,0.808231 2 220466344 rs397735129 G GT 149 idl,rn VT=INS;SST=Single;DP=76;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=487;PC=0.138;Gene=STK11IP/NM_052902.3/1;CC=c.268-4dupT;VC=Intron;DM=STK11IP/LIP1;DM=STK11IP/LIP1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:63:63:58:2:15,1,45,2:476,34,1828,56:0.00,1.91,148.51,3.23:0.00,-0.06,78.88,2.48:0.00,1.97,69.64,0.75:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:47.0,34.0,47.5,9.0:2,1,13,0:0,0,0,0:113,45,43,10:16,106,102,140:30,0,28,6:-,NM_052902.2(STK11IP) c.301-19_301-18insT:-,NOT_FOUND:-,NOT_FOUND 2 220466438 . G . . NT END=220466709;NT GT ./. 2 220466806 . G . . NT END=220467189;NT GT ./. 2 220467298 . G . . NT END=220467426;NT GT ./. 2 220467499 . G . . NT END=220470329;NT GT ./. 2 220470457 . G . . NT END=220470677;NT GT ./. 2 220470782 . G . . NT END=220470916;NT GT ./. 2 220471013 . G . . NT END=220471197;NT GT ./. 2 220471116 rs633200 C G 193 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.946-82C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:G:52:28:0:0:52:1685:193.13:77.07:116.05:1.00:1.00:1.00:60:41.8:0:0:81:69:46:NM_052902.2(STK11IP) c.979-82C>G,NM_052902.2(STK11IP) c.979-82C>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 220471240 . G . . NT END=220471433;NT GT ./. 2 220471581 . G . . NT END=220471774;NT GT ./. 2 220471860 . G . . NT END=220472768;NT GT ./. 2 220472596 rs630063 G T 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.1220-173G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:23:0:0:23:726:83.56:83.56:0.00:1.00:1.00:0.00:60:37.1:0:0:58:93:24:NM_052902.2(STK11IP) c.1253-173G>T,NM_052902.2(STK11IP) c.1253-173G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 220473153 . G . . NT END=220473304;NT GT ./. 2 220473511 . G . . NT END=220473818;NT GT ./. 2 220473653 rs675291 C T 117 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.1809+143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C,T:34:14:0:0:1,33:9,1030:0.00,117.14:0.00,44.60:0.00,72.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,39.5:0,0:0,0:131,88:18,62:0,27:NM_052902.2(STK11IP) c.1842+143C>T,NM_052902.2(STK11IP) c.1842+143C>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 220473936 . G . . NT END=220474084;NT GT ./. 2 220474263 . G . . NT END=220476325;NT GT ./. 2 220474466 rs565201552 GT G 14 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=130;Gene=STK11IP/NM_052902.3/1;CC=c.2104+220delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:GT,G:7:0:0:6:2,5:63,169:0.00,14.00:0.00,0.00:0.00,14.00:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,27.0:0,1:0,0:140,86:10,64:7,11:-,NM_052902.2(STK11IP) c.2137+205delT:-,NOT_FOUND:-,NOT_FOUND 2 220476138 rs676903 G A 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.2105-188G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,G:5:5:0:0:4,1:102,10:11.04,0.00:11.04,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:47.8,180.0:0,0:0,0:66,8:85,114:21,0:NM_052902.2(STK11IP) c.2138-188G>A,-:0.98,-:NOT_FOUND,- 2 220476443 rs627530 C T 528 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.2222C>T;ProtCh=p.S741F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:146:114:0:0:146:4587:528.02:289.78:238.24:1.00:1.00:1.00:60:40.0:0:0:68:77:33:NM_052902.2(STK11IP) c.2255C>T (p.Ser752Phe),NM_052902.2(STK11IP) c.2255C>T (p.Ser752Phe):0.86,0.86:0.839759,0.839759 2 220476557 . G . . NT END=220476676;NT GT ./. 2 220476645 rs581547 T C 353 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.2336-32T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:99:69:0:1:99:3064:353.39:196.83:156.56:1.00:1.00:1.00:60:41.0:0:0:64:86:29:NM_052902.2(STK11IP) c.2369-32T>C,NM_052902.2(STK11IP) c.2369-32T>C:0.89,0.89:0.874581,0.874581 2 220476781 . G . . NT END=220477849;NT GT ./. 2 220477948 . g . . NT END=220478473;NT GT ./. 2 220478653 . G . . NT END=220478882;NT GT ./. 2 220478682 . T G 8 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;Gene=STK11IP/NM_052902.3/1;CC=c.2716+30T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:G,T:87:53:0:0:13,74:178,1872:8.40,0.00:-2.38,0.00:10.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.6,16.6:0,0:0,0:90,109:56,31:35,25:NM_052902.2(STK11IP) c.2749+30T>G,-:NOT_FOUND,-:NOT_FOUND,- 2 220478965 . G . . NT END=220479197;NT GT ./. 2 220479269 . G . . NT END=220479815;NT GT ./. 2 220479312 rs624773 T C 136 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.2869+44T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:18:0:0:37:1185:135.98:41.25:94.73:1.00:1.00:1.00:60:41.2:0:0:103:31:23:NM_052902.2(STK11IP) c.2902+44T>C,NM_052902.2(STK11IP) c.2902+44T>C:0.98,0.98:0.975987,0.975987 2 220480064 . G . . NT END=220480765;NT GT ./. 2 220480246 rs76717295 C CAGAG 39 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=357;Gene=STK11IP/NM_052902.3/1;CC=c.3117+185_3117+186insAGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,CAGAG:13:0:12:0:1,12:30,347:0.00,38.88:0.00,0.00:0.00,38.88:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,35.9:0,0:0,0:148,89:3,61:0,36:NM_052902.2(STK11IP) c.3150+183_3150+184insAGAG,NM_052902.2(STK11IP) c.3150+183_3150+184insAGAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220480639 rs640807 T C 167 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.3118-127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:A,C:46:46:0:0:1,45:10,1465:0.20,167.45:0.20,152.63:0.00,14.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:151.0,65.2:0,0:0,0:65,44:77,106:0,30:NM_052902.2(STK11IP) c.3151-127T>C,NM_052902.2(STK11IP) c.3151-127T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 2 220480693 rs665845 G C 263 nt VT=SNV;PN=C;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=NA;Gene=STK11IP/NM_052902.3/1;CC=c.3118-73G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:63:0:0:74:2280:263.16:185.76:77.41:1.00:1.00:1.00:60:60.5:0:0:53:97:30:NM_052902.2(STK11IP) c.3151-73G>C,NM_052902.2(STK11IP) c.3151-73G>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 220480916 . G . . NT END=220492714;NT GT ./. 2 220492249 . CCGG C 6 rn VT=DEL;SST=Single;DP=23;PC=0.424;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:CCGG,C:23:21:0:3:20,3:637,89:0.00,6.47:0.00,3.20:0.00,3.26:0.00,0.47:0.00,0.88:0.00,0.87:60,60:9.2,0.0:0,0:0,0:43,105:85,44:29,10:-,NM_201574.2(SLC4A3) c.-209-u42_-209-u40delCGG:-,NOT_FOUND:-,NOT_FOUND 2 220492766 . G . . NT END=220493126;NT GT ./. 2 220493293 . G . . NT END=220493865;NT GT ./. 2 220494118 rs597306 A C 310 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.005;Gene=SLC4A3/NM_005070.3/1;CC=c.470A>C;ProtCh=p.H157P;VC=Missense;Gene=SLC4A3/NM_201574.2/0;CC=c.470A>C;ProtCh=p.H157P;VC=Missense;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding;DM=SLC4A3/Band_3_cyto;DM=SLC4A3/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:88:49:0:0:88:2685:310.21:125.40:184.81:1.00:1.00:1.00:60:47.1:0:0:76:69:39:NM_201574.2(SLC4A3) c.=,NM_201574.2(SLC4A3) c.=:0.96,0.96:0.949207,0.949207 2 220494144 . G . . NT END=220494301;NT GT ./. 2 220494418 . G . . NT END=220494793;NT GT ./. 2 220494604 rs57669531 AG A 39 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=113;PC=0.004;Gene=SLC4A3/NM_005070.3/1;CC=c.611+197delG;VC=Intron;Gene=SLC4A3/NM_201574.2/0;CC=c.612-180delG;VC=Intron;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding;DM=SLC4A3/Band_3_cyto;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:AG,A:12:12:0:11:1,11:13,351:0.00,38.93:0.00,38.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:68.0,15.0:0,0:0,0:144,37:7,114:0,7:NM_201574.2(SLC4A3) c.611+188delG,NM_201574.2(SLC4A3) c.611+188delG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220495075 . G . . NT END=220495800;NT GT ./. 2 220495167 rs612078 A C 133 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=SLC4A3/NM_005070.3/1;CC=c.811+93A>C;VC=Intron;Gene=SLC4A3/NM_201574.2/0;CC=c.892+93A>C;VC=Intron;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:6:0:0:34:1169:133.12:13.92:119.20:1.00:1.00:1.00:60:40.5:0:0:103:47:33:NM_201574.2(SLC4A3) c.892+93A>C,NM_201574.2(SLC4A3) c.892+93A>C:0.95,0.95:NOT_FOUND,NOT_FOUND 2 220496178 . G . . NT END=220496689;NT GT ./. 2 220496839 . G . . NT END=220496983;NT GT ./. 2 220497165 . G . . NT END=220497595;NT GT ./. 2 220497732 . G . . NT END=220497995;NT GT ./. 2 220498180 . G . . NT END=220498576;NT GT ./. 2 220498702 . G . . NT END=220499141;NT GT ./. 2 220499327 . G . . NT END=220499992;NT GT ./. 2 220500219 . G . . NT END=220500394;NT GT ./. 2 220500423 rs589767 A G 372 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=NA;PC=0.994;Gene=SLC4A3/NM_005070.3/1;CC=c.2001A>G;ProtCh=p.E667=;VC=Silent;Gene=SLC4A3/NM_201574.2/0;CC=c.2082A>G;ProtCh=p.E694=;VC=Silent;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:70:0:0:98:3253:371.99:208.23:163.76:1.00:1.00:1.00:60:75.2:0:0:61:85:25:NM_201574.2(SLC4A3) c.2085G>A (p.(=)),NM_201574.2(SLC4A3) c.2085G>A (p.(=)):0.95,0.95:0.948947,0.948947 2 220500426 rs639214 A G 363 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=NA;Gene=SLC4A3/NM_005070.3/1;CC=c.2004A>G;ProtCh=p.A668=;VC=Silent;Gene=SLC4A3/NM_201574.2/0;CC=c.2085A>G;ProtCh=p.A695=;VC=Silent;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:100:72:0:0:100:3160:363.41:192.61:170.80:1.00:1.00:1.00:60:73.9:0:0:57:91:25:NM_201574.2(SLC4A3) c.2082G>A (p.(=)),NM_201574.2(SLC4A3) c.2082G>A (p.(=)):0.92,0.92:0.895664,0.895664 2 220500614 . G . . NT END=220501023;NT GT ./. 2 220501173 . G . . NT END=220501401;NT GT ./. 2 220501597 . G . . NT END=220502302;NT GT ./. 2 220501915 rs71688224 AGTGTGT A 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=216;PC=0.535;Gene=SLC4A3/NM_005070.3/1;CC=c.2535+331_2535+336delTGTGTG;VC=Intron;Gene=SLC4A3/NM_201574.2/0;CC=c.2616+331_2616+336delTGTGTG;VC=Intron;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding;DM=SLC4A3/HCO3_cotransp;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:4:4:134:15.31:3.88:11.43:1.00:1.00:1.00:70:10.2:0:0:83:67:19:NM_201574.2(SLC4A3) c.2616+320_2616+325delGTGTGT,NM_201574.2(SLC4A3) c.2616+320_2616+325delGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 220502043 rs623851 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.248;Gene=SLC4A3/NM_005070.3/1;CC=c.2536-260T>C;VC=Intron;Gene=SLC4A3/NM_201574.2/0;CC=c.2617-260T>C;VC=Intron;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding;DM=SLC4A3/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:134:15.31:7.95:7.35:1.00:1.00:1.00:60:35.0:0:0:89:32:19:NM_201574.2(SLC4A3) c.2617-260T>C,NM_201574.2(SLC4A3) c.2617-260T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 2 220502137 rs621515 C T 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.012;Gene=SLC4A3/NM_005070.3/1;CC=c.2536-166C>T;VC=Intron;Gene=SLC4A3/NM_201574.2/0;CC=c.2617-166C>T;VC=Intron;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding;DM=SLC4A3/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:8:0:0:9:264:30.62:26.74:3.88:1.00:1.00:1.00:60:53.9:0:0:42:109:22:NM_201574.2(SLC4A3) c.2617-166C>T,NM_201574.2(SLC4A3) c.2617-166C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 220502367 rs635311 A C 314 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=0.008;Gene=SLC4A3/NM_005070.3/1;CC=c.2600A>C;ProtCh=p.D867A;VC=Missense;Gene=SLC4A3/NM_201574.2/0;CC=c.2681A>C;ProtCh=p.D894A;VC=Missense;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding;DM=SLC4A3/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:64:0:0:83:2744:313.76:175.56:138.21:1.00:1.00:1.00:60:39.9:0:0:62:82:37:NM_201574.2(SLC4A3) c.2681A>C (p.Asp894Ala),NM_201574.2(SLC4A3) c.2681A>C (p.Asp894Ala):0.72,0.72:0.676303,0.676303 2 220502534 . G . . NT END=220502885;NT GT ./. 2 220502976 . G . . NT END=220503424;NT GT ./. 2 220503592 . G . . NT END=220504203;NT GT ./. 2 220504458 . G . . NT END=220505151;NT GT ./. 2 220505265 rs684428 T C 360 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=NA;PC=0.773;Gene=SLC4A3/NM_005070.3/1;CC=c.3391T>C;ProtCh=p.L1131=;VC=Silent;Gene=SLC4A3/NM_201574.2/0;CC=c.3472T>C;ProtCh=p.L1158=;VC=Silent;Gene=SLC4A3/NR_048551.1/0;VC=NonCoding;DM=SLC4A3/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:97:60:0:0:97:3144:360.34:160.88:199.46:1.00:1.00:1.00:60:44.3:0:0:64:84:38:NM_201574.2(SLC4A3) c.3472T>C (p.(=)),NM_201574.2(SLC4A3) c.3472T>C (p.(=)):0.74,0.74:0.715977,0.715977 2 220505322 . G . . NT END=220505510;NT GT ./. 2 220505685 . G . . NT END=220506372;NT GT ./. 2 220506451 . C . . NT END=222290747;NT GT ./. 2 220646300 rs10537961 GCT G 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=112;PC=0.007;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GCT,G:4:3:0:2:2,2:68,66:0.00,6.35:0.00,6.65:0.00,-0.30:0.00,0.51:0.00,0.89:0.00,0.67:60,60:0.0,58.5:0,0:0,0:91,71:60,79:20,14:-,chr2 g.220646301_220646302delCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 221183140 rs1378026 T C 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:131:15.01:11.18:3.83:1.00:1.00:1.00:60:32.8:0:0:60:69:33:chr2 g.221183139T>C (intergenic),chr2 g.221183139T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 2 221183171 . T TAC 6 rn VT=INS;SST=Single;DP=4;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TAC:4:4:2:0:2,2:69,67:0.00,6.45:0.00,3.22:0.00,3.22:0.00,0.51:0.00,0.51:0.00,0.51:60,60:33.5,16.5:0,0:0,0:104,31:25,117:41,21:-,chr2 g.221183171_221183172insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 221335848 rs12620188 A G 13 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=183 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:110:12.87:5.72:7.16:1.00:1.00:1.00:70:50.5:4:0:110:40:14:chr2 g.221335847A>G (intergenic),chr2 g.221335847A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 221338236 rs10646154 A AGTGTGTGTGTGTGT 13 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=7;NP=81;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,AGTGTGTGTGTGTGT:5:4:6:0:1,4:34,191:0.00,13.47:0.00,4.78:0.00,8.68:0.00,0.90:0.00,0.97:0.00,0.99:60,60:32.0,50.5:0,2:0,0:132,79:19,72:0,19:-,chr2 g.221338236_221338237insGTGTGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 221398829 rs397739534 T TACACAC 10 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;NP=49;NP=5;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TACACAC:4:3:5:0:1,3:33,160:0.00,9.73:0.00,1.49:0.00,8.24:0.00,0.73:0.00,0.89:0.00,0.51:60,60:0.0,0.0:0,2:0,0:150,55:1,96:0,26:-,chr2 g.221398829_221398830insACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 221501609 . C CGT 9 rn VT=INS;SST=Single;DP=5;NP=4;NP=74;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,CGT:5:4:3:0:2,3:58,94:0.00,9.37:0.00,9.77:0.00,-0.40:0.00,0.78:0.00,0.97:0.00,0.73:60,60:8.5,0.0:0,0:0,0:37,78:113,73:9,26:-,chr2 g.221501609_221501610insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 221664455 rs62185724 G T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=58 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:G,T:7:4:0:1:3,4:96,140:0.00,13.83:0.00,3.37:0.00,10.47:0.00,0.90:0.00,0.97:0.00,0.90:60,60:0.0,35.0:0,0:0,0:122,53:29,97:21,21:-,chr2 g.221664454G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 221678831 rs141101535 A ATG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=101;NP=9;PC=0.003;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,ATG:4:3:3:0:1,3:32,96:0.00,10.05:0.00,4.88:0.00,5.18:0.00,0.85:0.00,0.99:0.00,0.95:60,60:44.0,4.0:0,0:0,0:27,34:123,117:0,4:-,chr2 g.221678831_221678832insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 222016996 rs76695502 G C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;NP=4;NP=97 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:C,G,I:4:4:2:0:2,1,1:69,34,62:6.84,0.00,2.48:5.00,0.00,1.19:1.84,0.00,1.29:0.46,0.00,0.00:0.87,0.00,0.00:0.80,0.00,0.00:60,60,60:51.5,31.0,13.0:0,0,1:0,0,0:67,78,48:76,32,84:12,0,23:chr2 g.222016995G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 222139182 rs66601453 GCA G 18 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=76;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:6:5:188:17.89:14.39:3.50:0.99:1.00:1.00:60:23.0:1:0:25:107:6:chr2 g.222139183_222139184delCA (intergenic),chr2 g.222139183_222139184delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 222290623 rs566584977 G GT 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=8;Gene=EPHA4/NM_001304537.1/0;CC=c.*124dupA;VC=3UTR;Gene=EPHA4/NM_004438.4/0;CC=c.*124dupA;VC=3UTR;Gene=EPHA4/NM_001304536.1/1;CC=c.*124dupA;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:G,GT:7:7:3:0:4,3:139,90:0.00,8.35:0.00,8.35:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:63.0,46.3:0,0:0,0:85,35:63,116:22,27:-,NM_004438.3(EPHA4) c.*124dupA:-,NOT_FOUND:-,NOT_FOUND 2 222290863 . C . . NT END=222291154;NT GT ./. 2 222290902 rs2303901 A G 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=EPHA4/NM_001304537.1/0;CC=c.2694-40T>C;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.2847-40T>C;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.2847-40T>C;VC=Intron;DM=EPHA4/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:19:0:0:16,27:528,762:0.00,76.73:0.00,26.47:0.00,50.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.1,48.4:0,0:0,0:108,101:38,50:35,29:-,NM_004438.3(EPHA4) c.2847-40T>C:-,0.45:-,0.588498 2 222290963 rs116144026 A C 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=EPHA4/NM_001304537.1/0;CC=c.2694-101T>G;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.2847-101T>G;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.2847-101T>G;VC=Intron;DM=EPHA4/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:26:7:0:0:13,12,1:335,397,10:0.00,37.91,0.08:0.00,10.02,0.25:0.00,27.89,-0.17:0.00,1.00,0.00:0.00,0.98,0.00:0.00,1.00,0.00:60,60,60:40.4,36.2,186.0:0,0,0:0,0,0:102,96,63:45,54,87:33,34,0:-,NM_004438.3(EPHA4) c.2847-101T>G:-,0.02:-,NOT_FOUND 2 222291340 . C . . NT END=222294677;NT GT ./. 2 222294872 . C . . NT END=222298861;NT GT ./. 2 222298782 rs10180104 G C 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=5;Gene=EPHA4/NM_001304537.1/0;CC=c.2343+80C>G;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.2496+80C>G;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.2496+80C>G;VC=Intron;DM=EPHA4/Pkinase_Tyr;DM=EPHA4/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:31:0:0:19,15:601,428:59.03,0.00:49.01,0.00:10.02,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.3,2.1:0,0:0,0:43,33:107,118:26,30:NM_004438.3(EPHA4) c.2496+80C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 222299012 . C . . NT END=222301118;NT GT ./. 2 222301329 . C . . NT END=222301780;NT GT ./. 2 222301357 rs3213844 T C 105 nt VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=EPHA4/NM_001304537.1/0;CC=c.1984-29A>G;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.2137-29A>G;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.2137-29A>G;VC=Intron;DM=EPHA4/Pkinase_Tyr;DM=EPHA4/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:21:0:0:35,34:1092,1089:105.12,0.00:33.19,0.00:71.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,7.9:0,0:0,0:111,94:39,56:19,17:NM_004438.3(EPHA4) c.2137-29A>G,-:0.58,-:0.604106,- 2 222301843 . C . . NT END=222307548;NT GT ./. 2 222307310 rs2288629 C A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.677;Gene=EPHA4/NM_001304537.1/0;CC=c.1921+239G>T;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.2074+239G>T;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.2074+239G>T;VC=Intron;DM=EPHA4/Pkinase_Tyr;DM=EPHA4/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,C:4:4:0:0:3,1:99,31:10.35,0.00:10.35,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:56.0,9.0:0,0:0,0:92,2:59,149:2,0:NM_004438.3(EPHA4) c.2074+239G>T,-:0.82,-:NOT_FOUND,- 2 222307735 . C . . NT END=222308212;NT GT ./. 2 222308327 . C . . NT END=222310842;NT GT ./. 2 222310902 . C . . NT END=222320266;NT GT ./. 2 222320066 rs3815970 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.145;Gene=EPHA4/NM_001304537.1/0;CC=c.1562+201C>T;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.1715+201C>T;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.1715+201C>T;VC=Intron;DM=EPHA4/EphA2_TM;DM=EPHA4/EphA2_TM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,G:8:8:0:0:5,3:171,77:17.20,0.00:17.20,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:34.2,55.0:0,0:0,0:77,79:72,72:18,25:NM_004438.3(EPHA4) c.1715+201C>T,-:0.39,-:NOT_FOUND,- 2 222320379 . C . . NT END=222321332;NT GT ./. 2 222320427 rs2288627 G A 66 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=EPHA4/NM_001304537.1/0;CC=c.1451-49C>T;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.1604-49C>T;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.1604-49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:14:0:0:22,20:680,662:65.84,0.00:14.84,0.00:51.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,5.3:0,0:0,0:117,100:34,50:16,34:NM_004438.3(EPHA4) c.1604-49C>T,-:0.7,-:0.718,- 2 222321225 rs6718949 C T 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.011;Gene=EPHA4/NM_001304537.1/0;CC=c.1450+108G>A;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.1603+108G>A;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.1603+108G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:14,14:481,447:0.00,42.95:0.00,42.95:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.9,36.1:0,0:0,0:62,29:88,121:33,25:-,NM_004438.3(EPHA4) c.1603+108G>A:-,0.7:-,NOT_FOUND 2 222321493 . C . . NT END=222322585;NT GT ./. 2 222322711 . C . . NT END=222347071;NT GT ./. 2 222347411 . C . . NT END=222365736;NT GT ./. 2 222347615 rs1864461 A G 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=EPHA4/NM_001304537.1/0;CC=c.827-205T>C;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.980-205T>C;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.980-205T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:189:21.74:0.00:21.74:1.00:0.00:1.00:60:55.5:0:0:109:42:13:NM_004438.3(EPHA4) c.980-205T>C,NM_004438.3(EPHA4) c.980-205T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 2 222347655 rs1864460 A C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;Gene=EPHA4/NM_001304537.1/0;CC=c.827-245T>G;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.980-245T>G;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.980-245T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:137:15.61:0.00:15.61:1.00:0.00:1.00:60:64.0:0:0:133:17:9:NM_004438.3(EPHA4) c.980-245T>G,NM_004438.3(EPHA4) c.980-245T>G:0.44,0.44:NOT_FOUND,NOT_FOUND 2 222365893 . C . . NT END=222428450;NT GT ./. 2 222428332 rs11888889 G A 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=1.000;Gene=EPHA4/NM_001304537.1/0;CC=c.670+119C>T;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.823+119C>T;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.823+119C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:37:0:0:18,20:491,614:46.21,0.00:46.49,0.00:-0.28,0.00:1.00,0.00:1.00,0.00:0.65,0.00:60,60:32.1,10.8:0,0:0,0:49,60:101,89:18,26:NM_004438.3(EPHA4) c.823+119C>T,-:0.35,-:NOT_FOUND,- 2 222429115 . C . . NT END=222433437;NT GT ./. 2 222433506 . C . . NT END=222436877;NT GT ./. 2 222433720 rs2680844 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=1.000;Gene=EPHA4/NM_001304537.1/0;CC=c.6+3158T>C;VC=Intron;Gene=EPHA4/NM_004438.4/0;CC=c.92-215T>C;VC=Intron;Gene=EPHA4/NM_001304536.1/1;CC=c.92-215T>C;VC=Intron;DM=EPHA4/Ephrin_lbd;DM=EPHA4/Ephrin_lbd;DM=EPHA4/Ephrin_lbd;DM=EPHA4/Ephrin_lbd;DM=EPHA4/Ephrin_lbd;DM=EPHA4/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:138:15.71:0.00:15.71:1.00:0.00:1.00:60:34.5:0:0:116:34:19:NM_004438.3(EPHA4) c.92-215T>C,NM_004438.3(EPHA4) c.92-215T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 222436969 . G . . NT END=223065892;NT GT ./. 2 222437136 rs11381414 A AG 44 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=41;Gene=EPHA4/NM_001304536.1/1;CC=c.-33-136dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A,AG:15:0:14:0:1,14:34,392:0.00,44.25:0.00,0.00:0.00,44.25:0.00,1.00:0.00,0.00:0.00,1.00:60,60:109.0,22.1:0,0:0,0:144,73:-23,77:0,26:NM_004438.3(EPHA4) c.-42-u127_-42-u126insC,NM_004438.3(EPHA4) c.-42-u127_-42-u126insC:0.98,0.98:NOT_FOUND,NOT_FOUND 2 222437234 rs397702160 C CG 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=670;Gene=EPHA4/NM_001304536.1/1;CC=c.-33-234dupC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,CG:4:0:3:0:1,3:25,95:0.00,9.96:0.00,0.00:0.00,9.96:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,6.3:0,0:0,0:148,110:3,41:0,1:-,XR_108432.1(LOC729770) n.11dupG:-,1:-,NOT_FOUND 2 222598596 rs55937905 T TTGTGTGTG 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=152;NP=2;PC=0.001;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TTGTGTGTG:4:5:3:0:2,2:65,100:0.00,6.31:0.00,6.31:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:70,60:22.5,39.0:0,1:0,0:82,73:68,78:46,26:-,chr2 g.222598596_222598597insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 222652620 rs60403147 TGTGTGC T 15 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=310;PC=0.007;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TGTGTGC,T:5:5:0:5:1,4:35,137:0.00,14.52:0.00,7.26:0.00,7.26:0.00,0.96:0.00,0.96:0.00,0.96:60,70:69.0,5.0:0,0:0,0:16,46:100,103:0,5:-,chr2 g.222652621_222652626delGTGTGC (intergenic):-,0.83:-,NOT_FOUND 2 222820945 rs57479371 ATG A 12 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=53;PC=0.008;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:ATG,A:6:5:0:5:2,4:67,155:0.00,12.40:0.00,6.22:0.00,6.18:0.00,0.90:0.00,0.98:0.00,0.98:60,60:13.5,45.2:0,1:0,0:78,72:35,79:38,22:-,chr2 g.222820946_222820947delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 222826638 rs28649254 G T 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:13:0:0:10,8:318,253:0.00,23.75:0.00,16.71:0.00,7.04:0.00,0.99:0.00,1.00:0.00,0.98:60,60:3.5,38.1:0,0:0,0:47,59:103,91:39,42:-,chr2 g.222826637G>T (intergenic):-,0.2:-,NOT_FOUND 2 222827492 rs13424672 T C 118 nt VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;PC=0.661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:74:51:0:0:38,36:1225,1121:118.35,0.00:63.16,0.00:55.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,10.0:0,0:0,0:78,67:71,84:43,32:chr2 g.222827491T>C (intergenic),-:0.2,-:NOT_FOUND,- 2 222913897 . CGT C 7 rn VT=DEL;SST=Single;DP=8;PC=0.187;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:CGT,I,C:7:7:1:4:3,1,3:107,34,108:0.00,2.80,7.02:0.00,2.86,4.62:0.00,-0.06,2.40:0.00,0.00,0.67:0.00,0.00,0.95:0.00,0.00,0.85:60,60,60:3.7,0.0,11.3:0,0,1:0,0,0:112,92,28:36,59,101:3,0,3:-,chr2 g.222913898_222913899delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 222924200 rs71050379 TTGTGTGTG T 9 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=24;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:TTGTGTGTG,T:6:6:0:4:3,3:84,131:0.00,9.30:0.00,8.01:0.00,1.29:0.00,0.69:0.00,0.95:0.00,0.83:60,70:28.3,0.0:0,1:0,0:94,65:57,86:54,46:-,chr2 g.222924201_222924208delTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 223066162 . C . . NT END=223066431;NT GT ./. 2 223066536 rs368725878 CA C 41 idl,rn VT=DEL;SST=Single;DP=121;DB;DBA=NA;PAF=NA;NP=34;PC=0.004;Gene=PAX3/NM_001127366.2/0;CC=c.1417+126delT;VC=Intron;Gene=PAX3/NM_181458.3/0;CC=c.1420+126delT;VC=Intron;Gene=PAX3/NM_181459.3/0;CC=c.1420+126delT;VC=Intron;Gene=PAX3/NM_181460.3/0;CC=c.1174-376delT;VC=Intron;Gene=PAX3/NM_181461.3/0;CC=c.1174-376delT;VC=Intron;Gene=PAX3/NM_181457.3/1;CC=c.*106delT;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:112:92:12:22:6,81,8,17:83,2563,384,679:2.54,0.00,18.49,40.91:-0.72,0.00,11.31,34.48:3.27,0.00,7.18,6.43:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:58.0,11.4,12.0,14.5:1,0,4,5:0,0,0,0:50,78,39,65:100,64,112,79:19,38,22,40:-,NM_181457.3(PAX3) c.*92T[14]:-,NOT_FOUND:-,NOT_FOUND 2 223066910 . C . . NT END=223084858;NT GT ./. 2 223077341 rs71053060 A AAC 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=140;NP=2;NP=3;Gene=PAX3/NM_001127366.2/0;CC=c.1170+7517_1170+7518insGT;VC=Intron;Gene=PAX3/NM_181458.3/0;CC=c.1173+7517_1173+7518insGT;VC=Intron;Gene=PAX3/NM_181459.3/0;CC=c.1173+7517_1173+7518insGT;VC=Intron;Gene=PAX3/NM_181460.3/0;CC=c.1173+7517_1173+7518insGT;VC=Intron;Gene=PAX3/NM_181461.3/0;CC=c.1173+7517_1173+7518insGT;VC=Intron;Gene=PAX3/NM_181457.3/1;CC=c.1173+7517_1173+7518insGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AAC:5:5:3:0:2,3:67,98:0.00,9.77:0.00,8.14:0.00,1.63:0.00,0.78:0.00,0.78:0.00,0.87:60,60:22.0,9.0:0,0:0,0:72,50:61,87:29,32:-,NM_181457.3(PAX3) c.1173+7517_1173+7518insGT:-,NOT_FOUND:-,NOT_FOUND 2 223085074 . C . . NT END=223085940;NT GT ./. 2 223086107 . C . . NT END=223096796;NT GT ./. 2 223096709 rs1965791 G C 53 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=PAX3/NM_001127366.2/0;CC=c.789+88C>G;VC=Intron;Gene=PAX3/NM_181458.3/0;CC=c.792+88C>G;VC=Intron;Gene=PAX3/NM_181459.3/0;CC=c.792+88C>G;VC=Intron;Gene=PAX3/NM_181460.3/0;CC=c.792+88C>G;VC=Intron;Gene=PAX3/NM_181461.3/0;CC=c.792+88C>G;VC=Intron;Gene=PAX3/NM_181457.3/1;CC=c.792+88C>G;VC=Intron;DM=PAX3/Homeobox GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:36:0:0:17,20:556,604:52.62,0.00:48.06,0.00:4.56,0.00:1.00,0.00:1.00,0.00:0.92,0.00:60,60:37.3,7.9:0,0:0,0:63,46:88,104:27,22:NM_181457.3(PAX3) c.792+88C>G,-:0.67,-:NOT_FOUND,- 2 223097003 . C . . NT END=223158348;NT GT ./. 2 223158039 rs2276630 G A 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=PAX3/NM_001127366.2/0;CC=c.583+847C>T;VC=Intron;Gene=PAX3/NM_181458.3/0;CC=c.586+847C>T;VC=Intron;Gene=PAX3/NM_181459.3/0;CC=c.586+847C>T;VC=Intron;Gene=PAX3/NM_181460.3/0;CC=c.586+847C>T;VC=Intron;Gene=PAX3/NM_181461.3/0;CC=c.586+847C>T;VC=Intron;Gene=PAX3/NM_181457.3/1;CC=c.586+847C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:7:7:0:0:5,2:160,67:16.57,0.00:16.57,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:41.6,8.5:0,0:0,0:45,44:106,105:8,10:NM_181457.3(PAX3) c.586+847C>T,-:0.14,-:NOT_FOUND,- 2 223158652 rs397987956 GT G 401 PASS VT=DEL;SST=Single;DP=121;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2858;Gene=PAX3/NM_001127366.2/0;CC=c.583+233delA;VC=Intron;Gene=PAX3/NM_181458.3/0;CC=c.586+233delA;VC=Intron;Gene=PAX3/NM_181459.3/0;CC=c.586+233delA;VC=Intron;Gene=PAX3/NM_181460.3/0;CC=c.586+233delA;VC=Intron;Gene=PAX3/NM_181461.3/0;CC=c.586+233delA;VC=Intron;Gene=PAX3/NM_181457.3/1;CC=c.586+233delA;VC=Intron;Gene=PAX3/NM_000438.5/0;CC=c.*171delA;VC=3UTR;Gene=PAX3/NM_013942.4/0;CC=c.587-177delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:GT,G:121:70:0:115:6,115:138,3564:0.00,401.13:0.00,198.38:0.00,202.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.3,8.7:1,0:0,0:147,77:2,70:1,35:NM_181457.3(PAX3) c.586+233delA,NM_181457.3(PAX3) c.586+233delA:1,1:NOT_FOUND,NOT_FOUND 2 223159021 . C . . NT END=223160246;NT GT ./. 2 223160377 . C . . NT END=223161696;NT GT ./. 2 223161624 rs12694578 A G 47 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=PAX3/NM_001127366.2/0;CC=c.321+73T>C;VC=Intron;Gene=PAX3/NM_181458.3/0;CC=c.321+73T>C;VC=Intron;Gene=PAX3/NM_181459.3/0;CC=c.321+73T>C;VC=Intron;Gene=PAX3/NM_181460.3/0;CC=c.321+73T>C;VC=Intron;Gene=PAX3/NM_181461.3/0;CC=c.321+73T>C;VC=Intron;Gene=PAX3/NM_181457.3/1;CC=c.321+73T>C;VC=Intron;Gene=PAX3/NM_000438.5/0;CC=c.321+73T>C;VC=Intron;Gene=PAX3/NM_013942.4/0;CC=c.321+73T>C;VC=Intron;DM=PAX3/PAX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:32:0:0:17,15:529,493:0.00,46.85:0.00,45.54:0.00,1.31:0.00,1.00:0.00,1.00:0.00,0.92:60,60:12.8,43.0:0,0:0,0:50,28:100,123:33,17:-,NM_181457.3(PAX3) c.321+73T>C:-,0.51:-,NOT_FOUND 2 223161889 rs12623857 A G 204 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=NA;Gene=PAX3/NM_001127366.2/0;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;Gene=PAX3/NM_181458.3/0;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;Gene=PAX3/NM_181459.3/0;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;Gene=PAX3/NM_181460.3/0;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;Gene=PAX3/NM_181461.3/0;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;Gene=PAX3/NM_181457.3/1;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;Gene=PAX3/NM_000438.5/0;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;Gene=PAX3/NM_013942.4/0;CC=c.129T>C;ProtCh=p.G43=;VC=Silent;DM=PAX3/PAX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:127:65:0:0:63,1,63:1946,10,2124:0.00,-0.14,204.49:0.00,-0.08,59.69:0.00,-0.06,144.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.6,202.0,43.3:0,0,0:0,0,0:105,142,84:42,9,62:28,0,27:-,NM_181457.3(PAX3) c.129T>C (p.(=)):-,0.89:-,0.846527 2 223161933 . C . . NT END=223163249;NT GT ./. 2 223162024 rs6754024 T G 71 nt VT=SNV;PN=G;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=PAX3/NM_001127366.2/0;CC=c.86-92A>C;VC=Intron;Gene=PAX3/NM_181458.3/0;CC=c.86-92A>C;VC=Intron;Gene=PAX3/NM_181459.3/0;CC=c.86-92A>C;VC=Intron;Gene=PAX3/NM_181460.3/0;CC=c.86-92A>C;VC=Intron;Gene=PAX3/NM_181461.3/0;CC=c.86-92A>C;VC=Intron;Gene=PAX3/NM_181457.3/1;CC=c.86-92A>C;VC=Intron;Gene=PAX3/NM_000438.5/0;CC=c.86-92A>C;VC=Intron;Gene=PAX3/NM_013942.4/0;CC=c.86-92A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:35:1:0:0:1,21,13:10,706,429:0.08,70.78,0.00:0.00,1.63,0.00:0.08,69.15,0.00:0.00,1.00,0.00:0.00,0.73,0.00:0.00,1.00,0.00:60,60,60:149.0,45.1,8.8:0,0,0:0,0,0:104,89,104:2,61,47:0,30,25:NM_181457.3(PAX3) c.86-92A>C,-:0.89,-:NOT_FOUND,- 2 223163335 . C . . NT END=223168621;NT GT ./. 2 223169114 . T . . NT END=223289321;NT GT ./. 2 223184244 . T G 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;NP=1;PC=0.944 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G,T:9:8:0:0:8,1:211,11:23.56,0.00:18.78,0.00:4.79,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:49.6,0.0:0,0:0,0:98,124:30,27:24,0:XR_108436.1(LOC440934) n.1093+155T>G,XR_108436.1(LOC440934) n.1093+155T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 223268713 rs71053076 C CTGTG 14 sb,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=122;NP=55;PC=0.013;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,CTGTG:5:4:5:0:1,4:27,164:0.00,13.83:0.00,1.32:0.00,12.50:0.00,0.93:0.00,0.99:0.00,0.99:60,60:66.0,12.8:1,1:0,0:88,32:50,119:0,14:-,chr2 g.223268713_223268714insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 223289541 . G . . NT END=223339286;NT GT ./. 2 223317837 rs74705937 T TAAATATG 23 nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=19;PC=0.130;Gene=SGPP2/NM_152386.2/1;CC=c.220-21450_220-21449insAAATATG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:T,TAAATATG:10:2:7:0:3,7:96,227:0.00,23.39:0.00,5.43:0.00,17.95:0.00,1.00:0.00,0.92:0.00,1.00:60,60:0.0,1.3:0,0:0,0:139,64:1,86:0,11:-,NM_152386.2(SGPP2) c.220-21450_220-21449insAAATATG:-,NOT_FOUND:-,NOT_FOUND 2 223339154 rs10208082 C T 33 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SGPP2/NM_152386.2/1;CC=c.220-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,T:14:14:0:0:4,10:139,320:0.00,33.13:0.00,33.13:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.8,35.5:0,0:0,0:34,43:117,106:24,10:-,NM_152386.2(SGPP2) c.220-133C>T:-,0.33:-,NOT_FOUND 2 223339446 . G . . NT END=223386485;NT GT ./. 2 223339533 rs535350129 CTT C 16 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;PC=0.002;Gene=SGPP2/NM_152386.2/1;CC=c.378+104_378+105delTT;VC=Intron;DM=SGPP2/PAP2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:CTT,I,C:10:2:1:8:4,1,5:128,34,263:0.00,2.63,15.77:0.00,2.75,-0.11:0.00,-0.12,15.87:0.00,0.00,0.91:0.00,0.00,0.68:0.00,0.00,0.99:60,60,60:14.8,10.0,29.4:0,0,3:0,0,0:136,115,73:14,36,77:6,0,29:-,NM_152386.2(SGPP2) c.378+89_378+90delTT:-,NOT_FOUND:-,NOT_FOUND 2 223339593 rs79122199 A C 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=25;PC=0.002;Gene=SGPP2/NM_152386.2/1;CC=c.378+148A>C;VC=Intron;DM=SGPP2/PAP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,C:6:0:0:0:3,3:101,95:0.00,9.12:0.00,0.00:0.00,9.12:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,41.0:0,0:0,0:72,113:79,36:13,11:-,NM_152386.2(SGPP2) c.378+148A>C:-,0.0041:-,NOT_FOUND 2 223342986 rs139839255 TTG T 13 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=211;PC=0.002;Gene=SGPP2/NM_152386.2/1;CC=c.378+3569_378+3570delGT;VC=Intron;DM=SGPP2/PAP2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:113:13.20:9.38:3.83:1.00:1.00:1.00:60:16.5:0:0:68:82:39:NM_152386.2(SGPP2) c.378+3542_378+3543delTG,NM_152386.2(SGPP2) c.378+3542_378+3543delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 223386666 . G . . NT END=223389662;NT GT ./. 2 223389753 . G . . NT END=223423065;NT GT ./. 2 223423362 rs4674664 A G 481 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=NA;Gene=SGPP2/NM_152386.2/1;CC=c.945A>G;ProtCh=p.P315=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:135:95:0:0:135:4176:481.43:255.68:225.76:1.00:1.00:1.00:60:37.2:0:0:69:79:36:NM_152386.2(SGPP2) c.945A>G (p.(=)),NM_152386.2(SGPP2) c.945A>G (p.(=)):0.9,0.9:0.856835,0.856835 2 223423618 . G . . NT END=223436589;NT GT ./. 2 223423893 rs75231437 C G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,G:4:0:0:0:2,2:66,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:96.5,169.0:1,0:0,0:40,108:110,42:7,8:-,chr2 g.223423892C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 223423895 rs79873938 G C,GCC 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=6;NP=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:C,GCC:5:0:1:0:4,1:128,33:14.32,3.08:0.00,0.00:14.32,3.08:0.96,0.00:0.00,0.00:0.96,0.00:60,60:131.8,71.0:0,0:0,0:76,35:74,116:34,0:chr2 g.223423894G>C (intergenic),chr2 g.223423895_223423896insCC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 223423924 rs4674665 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:105.3:0:0:72:78:48:chr2 g.223423923C>T (intergenic),chr2 g.223423923C>T (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 2 223436607 rs7185 C T 253 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=1.000;Gene=FARSB/NM_005687.4/1;CC=c.1753G>A;ProtCh=p.V585I;VC=Missense;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:71:62:0:0:71:2198:253.49:182.59:70.89:1.00:1.00:1.00:60:35.5:0:0:64:86:43:NM_005687.3(FARSB) c.1753G>A (p.Val585Ile),NM_005687.3(FARSB) c.1753G>A (p.Val585Ile):0.86,0.86:0.805859,0.805859 2 223436742 . C . . NT END=223464646;NT GT ./. 2 223464803 . C . . NT END=223478529;NT GT ./. 2 223478648 . C . . NT END=223484363;NT GT ./. 2 223484457 . C . . NT END=223488368;NT GT ./. 2 223488450 . C . . NT END=223488990;NT GT ./. 2 223489199 . C . . NT END=223489432;NT GT ./. 2 223489249 rs397840009 GT G 33 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1443;Gene=FARSB/NM_005687.4/1;CC=c.963-52delA;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:24:10:0:11:13,11:432,345:0.00,32.56:0.00,10.53:0.00,22.02:0.00,1.00:0.00,0.99:0.00,1.00:60,60:17.4,22.7:0,0:0,0:41,119:110,32:39,21:-,NM_005687.3(FARSB) c.963-52delA:-,0.27:-,0.285668 2 223489293 rs2290031 C T 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=FARSB/NM_005687.4/1;CC=c.963-95G>A;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:5:0:0:10,12:305,362:0.00,35.31:0.00,8.90:0.00,26.41:0.00,1.00:0.00,0.98:0.00,1.00:60,60:20.7,55.0:0,0:0,0:66,45:85,105:10,31:-,NM_005687.3(FARSB) c.963-95G>A:-,0.28:-,NOT_FOUND 2 223489495 . C . . NT END=223493555;NT GT ./. 2 223493435 rs2019357 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=FARSB/NM_005687.4/1;CC=c.900+121C>T;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:10:10:0:0:4,6:129,204:11.89,0.00:11.89,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:32.2,49.7:0,0:0,0:63,85:87,66:37,15:NM_005687.3(FARSB) c.900+121C>T,-:0.76,-:NOT_FOUND,- 2 223493608 . C . . NT END=223494831;NT GT ./. 2 223494894 . C . . NT END=223496322;NT GT ./. 2 223496394 . C . . NT END=223497917;NT GT ./. 2 223498027 . C . . NT END=223499109;NT GT ./. 2 223499261 . C . . NT END=223504298;NT GT ./. 2 223504415 . C . . NT END=223505580;NT GT ./. 2 223505651 . C . . NT END=223507569;NT GT ./. 2 223507326 rs562956009 G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4;Gene=FARSB/NM_005687.4/1;CC=c.269+244C>T;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:6:6:0:0:3,3:93,107:8.92,0.00:8.92,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:39.0,0.0:0,0:0,0:121,94:30,57:10,36:NM_005687.3(FARSB) c.269+244C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 223507725 . C . . NT END=223513458;NT GT ./. 2 223510443 rs1868025 A G 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.005;Gene=FARSB/NM_005687.4/1;CC=c.115-2719T>C;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,G:4:4:0:0:2,2:49,67:0.00,6.46:0.00,4.62:0.00,1.84:0.00,0.51:0.00,0.51:0.00,0.67:60,60:29.5,33.5:0,0:0,0:88,26:62,108:52,15:-,NM_005687.3(FARSB) c.115-2719T>C:-,0.76:-,NOT_FOUND 2 223510646 rs8179677 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.551;Gene=FARSB/NM_005687.4/1;CC=c.114+2813G>A;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:10:0:0:8,7:233,227:0.00,21.55:0.00,12.11:0.00,9.44:0.00,0.99:0.00,1.00:0.00,0.99:60,60:6.1,33.1:0,0:0,0:103,39:47,112:23,27:-,NM_005687.3(FARSB) c.114+2813G>A:-,0.28:-,NOT_FOUND 2 223510927 rs1868026 G C 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=1.000;Gene=FARSB/NM_005687.4/1;CC=c.114+2532C>G;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,G:20:16:0:0:15,5:507,150:53.02,0.00:35.76,0.00:17.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,7.0:0,0:0,0:67,114:83,37:31,19:NM_005687.3(FARSB) c.114+2532C>G,-:0.77,-:NOT_FOUND,- 2 223511751 rs11695525 T C 139 nt VT=SNV;PN=T;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=0.004;Gene=FARSB/NM_005687.4/1;CC=c.114+1708A>G;VC=Intron;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:90:53:0:0:1,43,46:13,1452,1473:-0.01,138.93,0.00:-0.11,68.72,0.00:0.10,70.21,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:50.0,37.2,9.0:0,0,0:0,0,0:150,68,59:1,83,91:0,39,35:NM_005687.3(FARSB) c.114+1708A>G,-:0.28,-:NOT_FOUND,- 2 223513515 . C . . NT END=223520734;NT GT ./. 2 223520793 . G . . NT END=223536504;NT GT ./. 2 223520905 rs2166652 G C 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=FARSB/NM_005687.4/1;CC=c.-113C>G;VC=5UTR;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:8:0:0:18,16:532,545:51.55,0.00:5.91,0.00:45.64,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:43.2,20.7:0,0:0,0:100,121:50,29:36,16:NM_005687.3(FARSB) c.-35-u78C>G,-:0.76,-:NOT_FOUND,- 2 223520978 rs2044537 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=FARSB/NM_005687.4/1;CC=c.-186T>C;VC=5UTR;Gene=FARSB/NR_130154.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:0:0:0:6,7:195,234:0.00,22.84:0.00,0.00:0.00,22.84:0.00,0.99:0.00,0.00:0.00,0.99:60,60:18.3,57.9:0,0:0,0:113,106:37,45:24,22:-,NM_005687.3(FARSB) c.-35-u151T>C:-,0.76:-,NOT_FOUND 2 223536599 . G . . NT END=223553047;NT GT ./. 2 223553242 . G . . NT END=223553983;NT GT ./. 2 223554189 . G . . NT END=223559080;NT GT ./. 2 223558890 rs7592038 G A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.164;Gene=MOGAT1/NM_058165.2/1;CC=c.479-191G>A;VC=Intron;DM=MOGAT1/DAGAT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:13:13:0:0:4,9:97,257:8.12,0.00:8.12,0.00:0.00,0.00:0.79,0.00:0.79,0.00:0.00,0.00:60,60:69.2,26.3:0,0:0,0:85,45:65,106:58,29:NM_058165.2(MOGAT1) c.479-191G>A,-:0.37,-:NOT_FOUND,- 2 223559256 . G . . NT END=223559807;NT GT ./. 2 223560008 . G . . NT END=223574454;NT GT ./. 2 223574610 . C . . NT END=223773490;NT GT ./. 2 223574708 rs10173147 T C 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:2:0:0:10,11:332,337:31.67,0.00:-0.28,0.00:31.95,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:36.3,42.3:0,0:0,0:98,119:53,32:45,23:chr2 g.223574707T>C (intergenic),-:0.1,-:NOT_FOUND,- 2 223591421 rs6730351 G C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:15:6:0:0:7,8:205,264:19.24,0.00:10.24,0.00:9.00,0.00:0.99,0.00:0.97,0.00:1.00,0.00:60,60:31.1,3.4:0,0:0,0:84,72:67,78:14,17:chr2 g.223591420G>C (intergenic),-:0.6,-:NOT_FOUND,- 2 223773869 . G . . NT END=223781036;NT GT ./. 2 223780921 rs12623448 G A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=ACSL3/NM_004457.3/1;CC=c.379-116G>A;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.379-116G>A;VC=Intron;DM=ACSL3/AMP-binding;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:19:19:0:0:9,9,1:274,314,9:26.26,0.00,0.10:26.26,0.00,0.10:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:44.3,6.2,90.0:0,0,0:0,0,0:65,79,82:85,72,69:35,56,0:NM_004457.3(ACSL3) c.379-116G>A,-:0.88,-:NOT_FOUND,- 2 223781017 rs60362808 AT A 68 rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=1816;Gene=ACSL3/NM_004457.3/1;CC=c.379-11delT;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.379-11delT;VC=Intron;DM=ACSL3/AMP-binding;DM=ACSL3/AMP-binding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,A:52:46:0:24:27,1,24:859,31,722:0.00,1.64,68.33:0.00,1.67,55.75:0.00,-0.04,12.59:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:6.0,31.0,4.5:0,0,0:0,0,0:56,3,34:92,146,116:37,0,16:-,NM_004457.3(ACSL3) c.379-19delT:-,NOT_FOUND:-,NOT_FOUND 2 223781215 . G . . NT END=223782763;NT GT ./. 2 223782874 . G . . NT END=223783781;NT GT ./. 2 223783921 . G . . NT END=223785997;NT GT ./. 2 223784068 rs2119157 T G 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ACSL3/NM_004457.3/1;CC=c.805+148T>G;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.805+148T>G;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:G,T:29:1:0:0:21,8:705,222:73.12,0.00:-0.28,0.00:73.40,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:41.8,7.1:0,0:0,0:116,92:35,58:17,30:NM_004457.3(ACSL3) c.805+148T>G,-:0.87,-:NOT_FOUND,- 2 223785846 rs6728234 G A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=ACSL3/NM_004457.3/1;CC=c.806-152G>A;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.806-152G>A;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:9,9:238,289:22.62,0.00:22.62,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.0,9.6:0,0:0,0:51,30:99,119:37,25:NM_004457.3(ACSL3) c.806-152G>A,-:0.88,-:NOT_FOUND,- 2 223786149 . G . . NT END=223787425;NT GT ./. 2 223786263 rs80245918 G A 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.012;Gene=ACSL3/NM_004457.3/1;CC=c.956+115G>A;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.956+115G>A;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:9:0:0:0:3,6:100,168:8.95,0.00:0.00,0.00:8.95,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:33.3,10.2:0,0:0,0:110,110:40,40:5,12:NM_004457.3(ACSL3) c.956+115G>A,-:0.05,-:NOT_FOUND,- 2 223787272 rs75892084 G GTCTC 64 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1310;Gene=ACSL3/NM_004457.3/1;CC=c.957-141_957-138dupTCTC;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.957-141_957-138dupTCTC;VC=Intron;DM=ACSL3/AMP-binding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:G,GTCTC:20:21:19:0:2,18:60,620:0.00,64.39:0.00,64.39:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.0,12.6:0,1:0,0:73,38:74,113:54,13:-,NM_004457.3(ACSL3) c.957-154_957-153insTCTC:-,NOT_FOUND:-,NOT_FOUND 2 223787550 . G . . NT END=223787795;NT GT ./. 2 223787559 rs11891410 G A 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=ACSL3/NM_004457.3/1;CC=c.1080+10G>A;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1080+10G>A;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:19:0:0:24,27:788,891:74.94,0.00:24.77,0.00:50.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,5.5:0,0:0,0:93,88:56,54:29,26:NM_004457.3(ACSL3) c.1080+10G>A,-:0.88,-:0.826311,- 2 223787691 rs10932978 G A 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=ACSL3/NM_004457.3/1;CC=c.1081-105G>A;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1081-105G>A;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:32:19:0:0:15,1,16:464,10,512:44.20,0.04,0.00:26.40,-0.13,0.00:17.80,0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,10.0,21.1:0,0,0:0,0,0:55,118,49:96,33,101:29,0,35:NM_004457.3(ACSL3) c.1081-105G>A,-:0.88,-:NOT_FOUND,- 2 223787868 . G . . NT END=223789173;NT GT ./. 2 223789080 rs1866661 C G 64 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=ACSL3/NM_004457.3/1;CC=c.1153-94C>G;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1153-94C>G;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:28:26:0:0:9,19:296,630:0.00,64.43:0.00,46.22:0.00,18.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,35.6:0,0:0,0:65,42:86,109:32,28:-,NM_004457.3(ACSL3) c.1153-94C>G:-,0.86:-,NOT_FOUND 2 223789314 . G . . NT END=223791734;NT GT ./. 2 223789526 rs7590226 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ACSL3/NM_004457.3/1;CC=c.1292+213G>A;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1292+213G>A;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,G:6:0:0:0:3,3:104,77:10.03,0.00:0.00,0.00:10.03,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:34.7,0.0:0,0:0,0:137,127:14,24:7,14:NM_004457.3(ACSL3) c.1292+213G>A,-:0.86,-:NOT_FOUND,- 2 223791908 . G . . NT END=223793579;NT GT ./. 2 223793471 rs1550419 C T 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=ACSL3/NM_004457.3/1;CC=c.1466-109C>T;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1466-109C>T;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,T:24:23:0:0:7,17:195,512:0.00,53.03:0.00,53.56:0.00,-0.54:0.00,1.00:0.00,1.00:0.00,0.81:60,60:44.1,71.4:0,0:0,0:26,24:124,127:24,22:-,NM_004457.3(ACSL3) c.1466-109C>T:-,0.55:-,NOT_FOUND 2 223793480 rs1550420 C T 91 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=ACSL3/NM_004457.3/1;CC=c.1466-100C>T;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1466-100C>T;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:24:0:0:25:786:90.52:83.16:7.35:1.00:1.00:1.00:60:62.1:0:0:29:118:18:NM_004457.3(ACSL3) c.1466-100C>T,NM_004457.3(ACSL3) c.1466-100C>T:0.93,0.93:NOT_FOUND,NOT_FOUND 2 223793655 . G . . NT END=223795338;NT GT ./. 2 223795531 . G . . NT END=223797883;NT GT ./. 2 223797797 rs17781935 G A 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.049;Gene=ACSL3/NM_004457.3/1;CC=c.1733-87G>A;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1733-87G>A;VC=Intron;DM=ACSL3/AMP-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:25:0:0:11,14:362,422:34.01,0.00:34.14,0.00:-0.13,0.00:1.00,0.00:1.00,0.00:0.63,0.00:60,60:38.8,11.3:0,0:0,0:40,55:111,88:9,37:NM_004457.3(ACSL3) c.1733-87G>A,-:0.05,-:NOT_FOUND,- 2 223797999 . G . . NT END=223799247;NT GT ./. 2 223799207 rs935030 C T 136 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3037;Gene=ACSL3/NM_004457.3/1;CC=c.1848-41C>T;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.1848-41C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:A,T:39:36:0:0:1,38:10,1183:0.22,135.92:0.22,108.33:0.00,27.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,33.4:0,0:0,0:79,53:72,98:0,31:NM_004457.3(ACSL3) c.1848-41C>T,NM_004457.3(ACSL3) c.1848-41C>T:1,1:0.997922,0.997922 2 223799406 . G . . NT END=223806214;NT GT ./. 2 223806189 rs5838973 C CT 25 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=440;PC=0.005;Gene=ACSL3/NM_004457.3/1;CC=c.2006-22dupT;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.2006-22dupT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:43:37:10:0:33,10:1051,300:0.00,24.65:0.00,15.50:0.00,9.16:0.00,0.99:0.00,1.00:0.00,0.96:60,70:26.2,79.7:0,0:0,0:60,56:91,89:43,14:-,NM_004457.3(ACSL3) c.2006-26_2006-25insT:-,NOT_FOUND:-,NOT_FOUND 2 223806194 rs59252173 C T 50 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.022;Gene=ACSL3/NM_004457.3/1;CC=c.2006-21C>T;VC=Intron;Gene=ACSL3/NM_203372.1/0;CC=c.2006-21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,I:42:35:1:0:24,17,1:770,543,26:0.00,50.30,1.22:0.00,36.24,-0.18:0.00,14.05,1.40:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:13.2,69.8,57.0:0,10,0:0,0,0:49,66,108:98,81,42:33,35,0:-,NM_004457.3(ACSL3) c.2006-21C>T:-,0.87:-,0.764433 2 223806373 . T . . NT END=223916862;NT GT ./. 2 223864264 rs66812320 TAC T,TACACACACACACAC 7 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=470 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:63:TACACACACACACAC,T:4:2:2:2:2,2:67,65:7.05,6.85:5.26,0.00:1.79,6.85:0.51,0.00:0.79,0.00:0.89,0.00:60,60:0.0,0.0:0,0:0,0:44,87:106,63:24,27:chr2 g.223864265_223864266delAC (intergenic),chr2 g.223864265AC[7] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 223916993 . G . . NT END=223917525;NT GT ./. 2 223917629 rs3795886 C T 441 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=0.011;Gene=KCNE4/NM_080671.3/1;CC=c.234C>T;ProtCh=p.G78=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:119:89:0:0:1,118:10,3848:0.08,440.56:0.08,231.40:0.00,209.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:112.0,37.4:0,0:0,0:99,65:52,70:0,34:NM_080671.2(KCNE4) c.81C>T (p.(=)),NM_080671.2(KCNE4) c.81C>T (p.(=)):0.69,0.69:0.704598,0.704598 2 223917812 rs10201907 T C 537 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=NA;PC=0.002;Gene=KCNE4/NM_080671.3/1;CC=c.417T>C;ProtCh=p.P139=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:156:111:0:0:1,154,1:12,4663,11:0.10,536.88,0.00:0.10,281.97,0.00:0.00,254.90,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:77.0,39.4,91.0:0,0,0:0,0,0:9,75,85:142,74,52:0,35,0:NM_080671.2(KCNE4) c.264T>C (p.(=)),NM_080671.2(KCNE4) c.264T>C (p.(=)):0.97,0.97:0.957635,0.957635 2 223917983 rs12621643 T G 418 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=NA;Gene=KCNE4/NM_080671.3/1;CC=c.588T>G;ProtCh=p.D196E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:114:60:0:0:114:3635:417.56:159.46:258.11:1.00:1.00:1.00:60:52.3:0:0:79:70:33:NM_080671.2(KCNE4) c.435T>G (p.Asp145Glu),NM_080671.2(KCNE4) c.435T>G (p.Asp145Glu):0.66,0.66:0.643802,0.643802 2 223918062 . C . . NT END=224462146;NT GT ./. 2 223918080 rs10189762 C G 203 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;PC=0.972;Gene=KCNE4/NM_080671.3/1;CC=c.*19C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:G:58:28:0:0:58:1753:202.85:62.67:140.19:1.00:1.00:1.00:60:53.0:0:0:100:49:27:NM_080671.2(KCNE4) c.*19C>G,NM_080671.2(KCNE4) c.*19C>G:0.95,0.95:0.939749,0.939749 2 224192340 rs66519821 TAC T 11 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=94;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:TAC,I,T:10:8:4:4:3,3,4:106,121,116:0.00,8.12,11.16:0.00,2.92,4.67:0.00,5.20,6.49:0.00,0.00,0.82:0.00,0.00,0.96:0.00,0.00,0.94:60,70,60:21.7,22.7,44.0:0,1,0:0,0,0:87,53,77:35,79,73:12,38,11:-,chr2 g.224192341_224192342delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 224204319 . TTG T,TTGTGTGTG 9 idl,nt VT=DEL;SST=Single;DP=7;NP=58;PC=0.107 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:33:TTG,TTGTGTGTG,T:6:6:3:3:1,2,3:33,96,90:0.00,6.02,9.08:0.00,3.01,2.89:0.00,3.01,6.20:0.00,0.00,0.69:0.00,0.00,0.95:0.00,0.00,0.95:60,60,60:0.0,9.5,0.0:0,1,0:0,0,0:89,21,17:35,130,129:0,6,5:chr2 g.224204320_224204321delTG (intergenic),chr2 g.224204320TG[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 224464001 . G . . NT END=224620523;NT GT ./. 2 224569668 rs11678024 C T 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:134:15.31:9.64:5.67:1.00:1.00:1.00:60:37.2:0:0:104:46:9:chr2 g.224569667C>T (intergenic),chr2 g.224569667C>T (intergenic):0.47,0.47:NOT_FOUND,NOT_FOUND 2 224620396 rs12151747 T C 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=AP1S3/NM_001039569.1/1;CC=c.*3036A>G;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:275:31.32:31.32:0.00:1.00:1.00:0.00:60:47.9:0:0:77:73:30:NM_001039569.1(AP1S3) c.*3036A>G,NM_001039569.1(AP1S3) c.*3036A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 2 224620467 rs62185101 C T 52 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.002;Gene=AP1S3/NM_001039569.1/1;CC=c.*2965G>A;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:27:0:0:11,17:338,520:0.00,51.95:0.00,50.47:0.00,1.47:0.00,1.00:0.00,1.00:0.00,0.87:60,60:15.4,41.7:0,0:0,0:25,36:125,115:23,15:-,NM_001039569.1(AP1S3) c.*2965G>A:-,0.35:-,NOT_FOUND 2 224620795 . c . . NT END=224621193;NT GT ./. 2 224620884 rs56270976 A C 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.166;Gene=AP1S3/NM_001039569.1/1;CC=c.*2548T>G;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:39:8:0:0:21,18:675,572:0.00,54.09:0.00,6.91:0.00,47.18:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.2,40.3:0,0:0,0:112,102:38,49:35,22:-,NM_001039569.1(AP1S3) c.*2548T>G:-,0.35:-,NOT_FOUND 2 224621144 rs58904567 A AG 25 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;PC=0.001;Gene=AP1S3/NM_001039569.1/1;CC=c.*2287_*2288insC;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AG:23:21:9:0:14,9:450,278:0.00,25.41:0.00,25.94:0.00,-0.54:0.00,1.00:0.00,1.00:0.00,0.79:60,60:8.8,6.8:0,0:0,0:32,92:117,58:11,9:-,NM_001039569.1(AP1S3) c.*2287dupC:-,0.41:-,NOT_FOUND 2 224621705 rs531434125 CT C 25 idl,rn VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=3;PC=0.007;Gene=AP1S3/NM_001039569.1/1;CC=c.*1726delA;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:CT,T,I,C:72:40:14:15:51,1,10,10:1600,13,434,491:0.00,-0.04,24.18,25.18:0.00,-0.10,7.30,8.48:0.00,0.05,16.88,16.69:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:21.0,69.0,42.5,31.7:1,0,4,5:0,0,0,0:102,94,77,62:26,56,65,76:28,0,25,17:-,NM_001039569.1(AP1S3) c.*1710A[16]:-,NOT_FOUND:-,NOT_FOUND 2 224621721 . t . . NT END=224622283;NT GT ./. 2 224621887 rs10190269 T C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.017;Gene=AP1S3/NM_001039569.1/1;CC=c.*1545A>G;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:251,258:23.95,0.00:0.00,0.00:23.95,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:52.4,20.9:0,0:0,0:73,119:78,32:26,20:NM_001039569.1(AP1S3) c.*1545A>G,-:0.35,-:NOT_FOUND,- 2 224622139 rs840368 A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.026;Gene=AP1S3/NM_001039569.1/1;CC=c.*1293T>C;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:8:7:0:0:5,3:136,101:0.00,9.24:0.00,5.69:0.00,3.55:0.00,0.67:0.00,0.95:0.00,0.58:60,60:45.2,38.0:0,0:0,0:29,53:122,98:16,3:-,NM_001039569.1(AP1S3) c.*1293T>C:-,0.67:-,NOT_FOUND 2 224622860 rs397988004 TA T 109 rn VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=61;PC=0.011;Gene=AP1S3/NM_001039569.1/1;CC=c.*571delT;VC=3UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:76:51:0:36:40,36:1319,1150:0.00,109.36:0.00,56.97:0.00,52.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:1.0,1.9:0,0:0,0:76,77:74,69:41,33:-,NM_001039569.1(AP1S3) c.*564T[7]:-,NOT_FOUND:-,NOT_FOUND 2 224623468 . C . . NT END=224629929;NT GT ./. 2 224629876 rs202160898 C CCATCAT 76 idl,nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=38;NP=41;NP=451;NP=62;Gene=AP1S3/NM_001039569.1/1;CC=c.429+53_429+54insATGATG;VC=Intron;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCATCAT:55:45:27:0:30,25:939,875:0.00,76.17:0.00,50.65:0.00,25.52:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.4,9.6:0,2:0,0:58,34:91,106:33,20:-,NM_001039569.1(AP1S3) c.429+53_429+54insATGATG:-,NOT_FOUND:-,NOT_FOUND 2 224630068 . C . . NT END=224640617;NT GT ./. 2 224640727 . C . . NT END=224642407;NT GT ./. 2 224640803 rs59118867 C CAA 22 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=421;Gene=AP1S3/NM_001039569.1/1;CC=c.183-78_183-77insTT;VC=Intron;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAA:22:5:8:0:14,8:457,240:0.00,21.56:0.00,6.53:0.00,15.03:0.00,0.99:0.00,0.89:0.00,1.00:60,60:30.8,21.1:0,0:0,0:78,128:72,20:30,12:-,NM_001039569.1(AP1S3) c.183-78_183-77insTT:-,0.22:-,NOT_FOUND 2 224642587 . C . . NT END=224702164;NT GT ./. 2 224696805 rs369459091 A AC 18 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.009;Gene=AP1S3/NM_001039569.1/1;CC=c.3+5359_3+5360insG;VC=Intron;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,AC:6:5:5:0:1,5:34,163:0.00,17.51:0.00,10.21:0.00,7.30:0.00,0.99:0.00,1.00:0.00,1.00:60,60:139.0,21.6:0,5:0,0:5,76:146,75:0,43:-,NM_001039569.1(AP1S3) c.3+5359_3+5360insG:-,NOT_FOUND:-,NOT_FOUND 2 224696806 rs72317243 ATC A 18 idl,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.003;Gene=AP1S3/NM_001039569.1/1;CC=c.3+5357_3+5358delGA;VC=Intron;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:ATC,A:6:5:0:5:1,5:32,165:0.00,17.71:0.00,10.42:0.00,7.30:0.00,0.99:0.00,1.00:0.00,1.00:60,60:139.0,19.0:0,5:0,0:6,78:145,73:0,43:-,NM_001039569.1(AP1S3) c.3+5357_3+5358delGA:-,NOT_FOUND:-,NOT_FOUND 2 224696848 . CTCTCTGTGTGTGTG C 14 idl,nt VT=DEL;SST=Single;DP=6;NP=44;PC=0.036;Gene=AP1S3/NM_001039569.1/1;CC=c.3+5303_3+5316delCACACACACAGAGA;VC=Intron;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:6:0:8:4:193:14.20:8.95:5.25:0.93:0.93:0.97:60:69.2:2:0:41:95:7:NM_001039569.1(AP1S3) c.3+5303_3+5316delCACACACACAGAGA,NM_001039569.1(AP1S3) c.3+5303_3+5316delCACACACACAGAGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 224696951 rs12694622 G A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=AP1S3/NM_001039569.1/1;CC=c.3+5214C>T;VC=Intron;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:7:0:0:12:395:45.22:18.43:26.79:1.00:1.00:1.00:60:46.1:0:0:102:17:28:NM_001039569.1(AP1S3) c.3+5214C>T,NM_001039569.1(AP1S3) c.3+5214C>T:0.25,0.25:NOT_FOUND,NOT_FOUND 2 224702169 . G . . NT END=224743439;NT GT ./. 2 224702305 rs3738961 G C 96 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.075;Gene=AP1S3/NM_001039569.1/1;CC=c.-138C>G;VC=5UTR;Gene=AP1S3/NR_110905.1/0;VC=NonCoding;Gene=AP1S3/NR_110906.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:5:0:0:27:834:96.27:11.53:84.74:1.00:1.00:1.00:60:33.0:0:0:95:56:35:NM_001039569.1(AP1S3) c.-138C>G,NM_001039569.1(AP1S3) c.-138C>G:0.27,0.27:NOT_FOUND,NOT_FOUND 2 224743373 rs571111 C T 210 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.*15G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:T:56:47:0:0:56:1830:209.57:137.20:72.37:1.00:1.00:1.00:60:41.7:0:0:48:100:29:NM_020830.3(WDFY1) c.*15G>A,NM_020830.3(WDFY1) c.*15G>A:0.39,0.39:0.48939,0.48939 2 224743448 . C . . NT END=224744840;NT GT ./. 2 224743591 rs602675 C T 69 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.001;Gene=WDFY1/NM_020830.4/1;CC=c.1174-144G>A;VC=Intron;DM=WDFY1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:0:0:0:20:591:68.56:0.00:68.56:1.00:0.00:1.00:60:58.8:0:0:101:43:29:NM_020830.3(WDFY1) c.1174-144G>A,NM_020830.3(WDFY1) c.1174-144G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 224743652 rs547234 A G 36 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.1174-205T>C;VC=Intron;DM=WDFY1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:314:35.69:0.00:35.69:1.00:0.00:1.00:60:65.0:0:0:78:71:26:NM_020830.3(WDFY1) c.1174-205T>C,NM_020830.3(WDFY1) c.1174-205T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 2 224744701 rs516849 A G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.1173+140T>C;VC=Intron;DM=WDFY1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:380:43.25:43.25:0.00:1.00:1.00:0.00:60:42.3:0:0:64:85:45:NM_020830.3(WDFY1) c.1173+140T>C,NM_020830.3(WDFY1) c.1173+140T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 2 224744950 . C . . NT END=224746658;NT GT ./. 2 224746349 rs647849 C A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.010;Gene=WDFY1/NM_020830.4/1;CC=c.1064+310G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:153:17.68:17.68:0.00:1.00:1.00:0.00:60:61.6:0:0:48:103:36:NM_020830.3(WDFY1) c.1064+310G>T,NM_020830.3(WDFY1) c.1064+310G>T:0.86,0.86:NOT_FOUND,NOT_FOUND 2 224746790 . C . . NT END=224749364;NT GT ./. 2 224749467 . C . . NT END=224758950;NT GT ./. 2 224749576 rs377116257 C CTTCT 10 idl,nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=2;NP=227;NP=4;NP=7;NP=9;Gene=WDFY1/NM_020830.4/1;CC=c.832-111_832-110insAGAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,CTTCT:16:0:6:0:12,4:362,184:0.00,9.79:0.00,0.00:0.00,9.79:0.00,0.73:0.00,0.00:0.00,0.73:60,60:26.5,48.2:4,2:0,0:126,99:23,51:17,12:-,NM_020830.3(WDFY1) c.832-111_832-110insAGAA:-,NOT_FOUND:-,NOT_FOUND 2 224749579 rs7355685 T C 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=486;PC=0.003;Gene=WDFY1/NM_020830.4/1;CC=c.832-113A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:17:0:0:0:5,12:139,352:11.81,0.00:0.00,0.00:11.81,0.00:0.88,0.00:0.00,0.00:0.88,0.00:60,60:50.2,21.7:0,4:0,0:140,107:11,44:3,23:NM_020830.3(WDFY1) c.832-113A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 224758906 rs625150 C T 209 nt VT=SNV;PN=C;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.831+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:T:56:51:0:0:56:1827:209.29:170.37:38.92:1.00:1.00:1.00:60:39.3:0:0:48:101:26:NM_020830.3(WDFY1) c.831+45G>A,NM_020830.3(WDFY1) c.831+45G>A:0.89,0.89:0.938721,0.938721 2 224759057 . C . . NT END=224760220;NT GT ./. 2 224760348 . C . . NT END=224763674;NT GT ./. 2 224760359 rs150347314 TGA T 25 rn VT=DEL;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=6;Gene=WDFY1/NM_020830.4/1;CC=c.599-14_599-13delTC;VC=Intron;DM=WDFY1/WD40;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:TGA,I,T:85:43:1:11:74,1,10:2451,34,374:0.00,1.57,25.36:0.00,-0.12,8.99:0.00,1.70,16.37:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:9.4,0.0,0.0:0,0,1:0,0,0:89,56,79:61,95,72:29,0,16:-,NM_020830.3(WDFY1) c.599-14_599-13delTC:-,NOT_FOUND:-,0.075799 2 224760494 rs597349 G A 63 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.599-147C>T;VC=Intron;DM=WDFY1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:553:63.40:0.00:63.40:1.00:0.00:1.00:60:60.1:0:0:95:56:28:NM_020830.3(WDFY1) c.599-147C>T,NM_020830.3(WDFY1) c.599-147C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 224760575 rs552854 A G 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=WDFY1/NM_020830.4/1;CC=c.599-228T>C;VC=Intron;DM=WDFY1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:329:37.67:0.00:37.67:1.00:0.00:1.00:60:63.4:0:0:134:16:13:NM_020830.3(WDFY1) c.599-228T>C,NM_020830.3(WDFY1) c.599-228T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 224763788 . C . . NT END=224765899;NT GT ./. 2 224763816 rs530065 C T 151 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.001;Gene=WDFY1/NM_020830.4/1;CC=c.486-29G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G,T:42:19:0:0:1,41:14,1317:0.43,150.79:0.00,51.10:0.43,99.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,39.2:0,0:0,0:52,106:99,45:0,20:NM_020830.3(WDFY1) c.486-29G>A,NM_020830.3(WDFY1) c.486-29G>A:0.9,0.9:0.936798,0.936798 2 224765755 rs5839028 TA T 67 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1705;PC=0.019;Gene=WDFY1/NM_020830.4/1;CC=c.485+144delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:TA,I,T:24:26:1:23:2,1,21:62,33,668:0.00,2.33,67.31:0.00,2.33,67.31:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,70:0.0,0.0,18.6:0,0,2:0,0,0:139,81,41:10,70,110:1,0,22:-,NM_020830.3(WDFY1) c.485+144delT:-,NOT_FOUND:-,NOT_FOUND 2 224765894 rs604990 G A 426 nt VT=SNV;PN=A;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=NA;PC=1.000;Gene=WDFY1/NM_020830.4/1;CC=c.485+6C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:112:91:0:0:112:3724:425.77:275.66:150.11:1.00:1.00:1.00:60:38.7:0:0:55:89:28:NM_020830.3(WDFY1) c.485+6C>T,NM_020830.3(WDFY1) c.485+6C>T:0.9,0.9:0.938797,0.938797 2 224766051 . C . . NT END=224770663;NT GT ./. 2 224766250 rs678370 G C 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.335-200C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:0:0:0:16:440:51.50:0.00:51.50:1.00:0.00:1.00:60:43.2:0:0:114:36:25:NM_020830.3(WDFY1) c.335-200C>G,NM_020830.3(WDFY1) c.335-200C>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 224770719 . C . . NT END=224776969;NT GT ./. 2 224770780 rs622896 C T 81 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.280-62G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:T:22:6:0:0:22:704:80.89:13.52:67.37:1.00:1.00:1.00:60:32.0:0:0:112:37:23:NM_020830.3(WDFY1) c.280-62G>A,NM_020830.3(WDFY1) c.280-62G>A:0.81,0.81:0.846476,0.846476 2 224776283 . CCACACACACACA C 14 idl,nt VT=DEL;SST=Single;DP=7;NP=19;Gene=WDFY1/NM_020830.4/1;CC=c.279+675_279+686delTGTGTGTGTGTG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CCACACACACACA,C:5:7:0:6:1,4:35,199:0.00,13.97:0.00,8.72:0.00,5.25:0.00,0.90:0.00,0.90:0.00,0.93:60,60:0.0,11.5:0,2:0,0:112,30:38,105:0,4:-,NM_020830.3(WDFY1) c.279+675_279+686delTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 224776715 rs642241 T A 31 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.279+255A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:267:31.45:31.45:0.00:1.00:1.00:0.00:60:72.4:0:0:42:109:37:NM_020830.3(WDFY1) c.279+255A>T,NM_020830.3(WDFY1) c.279+255A>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 224776762 rs642170 G A 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.279+208C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:413:48.37:48.37:0.00:1.00:1.00:0.00:60:70.4:0:0:50:101:26:NM_020830.3(WDFY1) c.279+208C>T,NM_020830.3(WDFY1) c.279+208C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 224776821 rs544319 T C 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.279+149A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:21:0:0:21:613:71.22:71.22:0.00:1.00:1.00:0.00:60:57.2:0:0:57:94:27:NM_020830.3(WDFY1) c.279+149A>G,NM_020830.3(WDFY1) c.279+149A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 224777044 . C . . NT END=224782659;NT GT ./. 2 224777094 rs541712 T C 179 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=WDFY1/NM_020830.4/1;CC=c.206-51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:C:50:20:0:0:50:1557:179.49:46.72:132.77:1.00:1.00:1.00:60:36.0:0:0:120:30:21:NM_020830.3(WDFY1) c.206-51A>G,NM_020830.3(WDFY1) c.206-51A>G:0.78,0.78:0.885822,0.885822 2 224777105 rs397782236 G GTGAT 127 nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1575;Gene=WDFY1/NM_020830.4/1;CC=c.206-66_206-63dupATCA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTGAT:49:16:38:0:11,38:354,1205:0.00,127.29:0.00,30.02:0.00,97.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.5,36.9:0,0:0,0:141,98:6,51:4,33:-,NM_020830.3(WDFY1) c.206-63_206-62insATCA:-,0.78:-,0.882931 2 224782728 . C . . NT END=224809864;NT GT ./. 2 224810054 . C . . NT END=224822189;NT GT ./. 2 224822369 . G . . NT END=224824250;NT GT ./. 2 224824720 . G . . NT END=224828472;NT GT ./. 2 224828652 . G . . NT END=224831579;NT GT ./. 2 224831752 . C . . NT END=224840583;NT GT ./. 2 224831891 rs6707243 G A 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1921;PC=0.001;Gene=MRPL44/NM_022915.3/1;CC=c.*140G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:0:0:0:23:707:81.53:0.00:81.53:1.00:0.00:1.00:60:39.2:0:0:101:50:24:NM_022915.3(MRPL44) c.=,NM_022915.3(MRPL44) c.=:1,1:NOT_FOUND,NOT_FOUND 2 224840622 . C . . NT END=224842260;NT GT ./. 2 224842150 rs7597833 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.1192+111A>G;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.1156+111A>G;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.1159+111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:C,T:7:7:0:0:3,4:104,134:9.76,0.00:9.76,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:34.7,0.0:0,0:0,0:85,60:66,90:11,39:NM_006216.3(SERPINE2) c.1159+111A>G,-:0.33,-:NOT_FOUND,- 2 224842345 . C . . NT END=224845027;NT GT ./. 2 224844864 rs33916072 A G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.1108+164T>C;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.1072+164T>C;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.1075+164T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,G:10:10:0:0:4,6:136,182:0.00,18.14:0.00,18.14:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:45.2,82.7:0,0:0,0:19,22:131,127:5,9:-,NM_006216.3(SERPINE2) c.1075+164T>C:-,0.35:-,NOT_FOUND 2 224844919 rs729631 C G 68 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.1108+109G>C;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.1072+109G>C;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.1075+109G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:17:0:0:17:596:67.71:63.68:4.03:1.00:1.00:1.00:60:54.9:0:0:63:82:19:NM_006216.3(SERPINE2) c.1075+109G>C,NM_006216.3(SERPINE2) c.1075+109G>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 224845118 . C . . NT END=224847397;NT GT ./. 2 224847268 rs10164837 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.1021+130A>G;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.985+130A>G;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.985+130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:8:8:0:0:5,3:165,77:16.62,0.00:16.62,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:34.8,3.3:0,0:0,0:25,37:126,114:17,3:NM_006216.3(SERPINE2) c.985+130A>G,-:0.16,-:NOT_FOUND,- 2 224847499 . C . . NT END=224849468;NT GT ./. 2 224847707 rs975278 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.921-209A>G;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.885-209A>G;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.885-209A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:144:16.78:0.00:16.78:1.00:0.00:1.00:60:47.8:0:0:105:45:13:NM_006216.3(SERPINE2) c.885-209A>G,NM_006216.3(SERPINE2) c.885-209A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 2 224849668 . C . . NT END=224856519;NT GT ./. 2 224856718 . C . . NT END=224862831;NT GT ./. 2 224856965 rs10933031 T C 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.004;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.524-248A>G;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.488-248A>G;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.488-248A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C,T:8:0:0:0:7,1:199,10:21.98,0.00:0.00,0.00:21.98,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:70.7,72.0:0,0:0,0:113,81:24,70:33,0:NM_006216.3(SERPINE2) c.488-248A>G,NM_006216.3(SERPINE2) c.488-248A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 2 224862700 rs36034130 C A 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.523+132G>T;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.487+132G>T;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.487+132G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,C:11:11:0:0:4,7:112,228:9.96,0.00:9.96,0.00:0.00,0.00:0.82,0.00:0.82,0.00:0.00,0.00:60,60:30.0,35.9:0,0:0,0:89,70:61,81:23,38:NM_006216.3(SERPINE2) c.487+132G>T,-:0.1,-:NOT_FOUND,- 2 224862821 rs3795879 C T 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.523+11G>A;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.487+11G>A;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.487+11G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:40:0:0:19,25:657,751:0.00,73.91:0.00,58.11:0.00,15.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,68.5:0,0:0,0:55,48:96,102:28,31:-,NM_006216.3(SERPINE2) c.487+11G>A:-,0.28:-,0.308242 2 224862842 rs12457 A G 85 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;PC=0.986;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.513T>C;ProtCh=p.N171=;VC=Silent;Gene=SERPINE2/NM_001136528.1/0;CC=c.477T>C;ProtCh=p.N159=;VC=Silent;Gene=SERPINE2/NM_006216.3/1;CC=c.477T>C;ProtCh=p.N159=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:44:0:0:24,28:805,876:0.00,85.37:0.00,53.50:0.00,31.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,61.9:0,0:0,0:62,54:89,93:29,32:-,NM_006216.3(SERPINE2) c.477T>C (p.(=)):-,0.25:-,0.279563 2 224863060 . C . . NT END=224866358;NT GT ./. 2 224863090 rs10170379 C T 80 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=0.827;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.296-31G>A;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.260-31G>A;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.260-31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:19:0:0:24,26:781,828:0.00,80.17:0.00,19.61:0.00,60.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,32.7:0,0:0,0:107,105:40,38:22,28:-,NM_006216.3(SERPINE2) c.260-31G>A:-,0.25:-,0.277299 2 224866177 rs3795877 A G 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.295+182T>C;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.259+182T>C;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.259+182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:10,8:286,256:0.00,24.04:0.00,24.04:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:26.9,47.5:0,0:0,0:78,32:72,108:21,12:-,NM_006216.3(SERPINE2) c.259+182T>C:-,0.24:-,NOT_FOUND 2 224866217 rs3839039 A AC 44 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=240;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.295+141dupG;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.259+141dupG;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.259+141dupG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AC:31:30:15:0:15,1,15:500,10,459:0.00,0.05,44.00:0.00,0.06,41.09:0.00,-0.01,2.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.78:60,60,60:5.4,54.0,27.6:1,0,0:0,0,0:36,58,37:115,92,114:31,0,30:-,NM_006216.3(SERPINE2) c.259+141_259+142insG:-,0.24:-,NOT_FOUND 2 224866387 rs12138 G A 171 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.267C>T;ProtCh=p.L89=;VC=Silent;Gene=SERPINE2/NM_001136528.1/0;CC=c.231C>T;ProtCh=p.L77=;VC=Silent;Gene=SERPINE2/NM_006216.3/1;CC=c.231C>T;ProtCh=p.L77=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:129:107:0:0:56,73:1829,2233:171.38,0.00:119.07,0.00:52.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,7.3:0,0:0,0:52,66:93,79:35,33:NM_006216.3(SERPINE2) c.231C>T (p.(=)),-:0.18,-:0.137167,- 2 224866576 rs12436 C A 161 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.78G>T;ProtCh=p.T26=;VC=Silent;Gene=SERPINE2/NM_001136528.1/0;CC=c.42G>T;ProtCh=p.T14=;VC=Silent;Gene=SERPINE2/NM_006216.3/1;CC=c.42G>T;ProtCh=p.T14=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:109:52:0:0:53,56:1686,1703:161.07,0.00:51.31,0.00:109.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,8.3:0,0:0,0:75,79:67,67:36,41:NM_006216.3(SERPINE2) c.42G>T (p.(=)),-:0.21,-:0.170921,- 2 224866640 . C . . NT END=224875059;NT GT ./. 2 224866694 rs56046839 CT C 20 idl,rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.368;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.15-56delA;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-22-56delA;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-22-56delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:CT,I,C:47:12:2:12:37,2,8:1145,65,367:0.00,4.00,19.85:0.00,-0.13,0.93:0.00,4.13,18.92:0.00,0.00,0.96:0.00,0.00,0.81:0.00,0.00,1.00:60,60,60:29.7,17.0,26.6:0,0,4:0,0,0:121,49,104:26,100,42:22,43,23:-,NM_006216.3(SERPINE2) c.-22-56delA:-,NOT_FOUND:-,NOT_FOUND 2 224866707 rs200798858 T C 23 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=1;PC=0.014;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.15-68A>G;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-22-68A>G;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-22-68A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:8:0:0:10,28:282,776:23.47,0.00:6.33,0.00:17.14,0.00:1.00,0.00:0.88,0.00:1.00,0.00:60,60:36.2,24.1:9,0:0,0:121,119:30,30:11,20:NM_006216.3(SERPINE2) c.-22-68A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 224866711 rs138102254 CCAGAT C 25 nt VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.15-77_15-73delATCTG;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-22-77_-22-73delATCTG;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-22-77_-22-73delATCTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCAGAT,C:37:9:0:10:27,10:754,298:0.00,25.21:0.00,7.00:0.00,18.21:0.00,1.00:0.00,0.91:0.00,1.00:60,60:25.2,34.7:4,0:0,0:123,95:27,55:19,32:-,NM_006216.3(SERPINE2) c.-22-77_-22-73delATCTG:-,NOT_FOUND:-,NOT_FOUND 2 224866712 rs55733245 CAGAT C 8 idl,nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=68;PC=0.001;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.15-77_15-74delATCT;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-22-77_-22-74delATCT;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-22-77_-22-74delATCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:CAGAT,C:27:5:0:14:23,4:724,106:0.00,7.60:0.00,-0.24:0.00,7.84:0.00,0.66:0.00,0.54:0.00,0.95:60,60:26.0,17.0:0,0:0,0:124,109:26,36:19,13:-,NM_006216.3(SERPINE2) c.-22-77_-22-74delATCT:-,0.21:-,NOT_FOUND 2 224866830 rs10206895 A T 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.060;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.15-191T>A;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-22-191T>A;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-22-191T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:1:0:0:9,8:282,226:0.00,21.30:0.00,-0.28:0.00,21.57:0.00,0.99:0.00,0.65:0.00,1.00:60,60:35.6,53.1:0,0:0,0:64,115:86,36:51,8:-,NM_006216.3(SERPINE2) c.-22-191T>A:-,0.65:-,NOT_FOUND 2 224875099 . G . . NT END=224894788;NT GT ./. 2 224894925 . C . . NT END=224895692;NT GT ./. 2 224895977 rs5839037 AC A 399 rn VT=DEL;SST=Single;DP=123;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;PC=0.006;Gene=SERPINE2/NR_073116.1/0;VC=NonCoding;Gene=SERPINE2/NM_001136530.1/0;CC=c.14+7229delG;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-23+7838delG;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-23+7838delG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:AC,A:123:79:0:117:8,115:238,3570:0.00,398.97:0.00,193.29:0.00,205.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,6.9:0,0:0,0:143,70:6,75:1,32:NM_006216.3(SERPINE2) c.-23+7838delG,NM_006216.3(SERPINE2) c.-23+7838delG:0.91,0.91:NOT_FOUND,NOT_FOUND 2 224896196 . g . . NT END=224903206;NT GT ./. 2 224896337 rs1020116 C T 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NM_001136530.1/0;CC=c.14+6870G>A;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-23+7479G>A;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-23+7479G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:2:0:0:16,11:413,349:0.00,32.29:0.00,-0.34:0.00,32.63:0.00,1.00:0.00,0.71:0.00,1.00:60,60:13.9,86.3:0,0:0,0:121,91:28,60:17,31:-,NM_006216.3(SERPINE2) c.-23+7479G>A:-,0.61:-,NOT_FOUND 2 224896342 rs1020117 C A 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=SERPINE2/NM_001136530.1/0;CC=c.14+6865G>T;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-23+7474G>T;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-23+7474G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:27:2:0:0:11,16:323,425:29.65,0.00:-0.34,0.00:29.99,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:89.4,13.9:0,0:0,0:94,126:57,23:33,17:NM_006216.3(SERPINE2) c.-23+7474G>T,-:0.61,-:NOT_FOUND,- 2 224896438 rs1020118 A G 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.939;Gene=SERPINE2/NM_001136530.1/0;CC=c.14+6769T>C;VC=Intron;Gene=SERPINE2/NM_001136528.1/0;CC=c.-23+7378T>C;VC=Intron;Gene=SERPINE2/NM_006216.3/1;CC=c.-23+7378T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:A,G:11:0:0:0:5,6:150,204:0.00,19.97:0.00,0.00:0.00,19.97:0.00,0.98:0.00,0.00:0.00,0.98:60,60:10.6,74.2:0,0:0,0:106,101:45,49:13,16:-,NM_006216.3(SERPINE2) c.-23+7378T>C:-,0.64:-,NOT_FOUND 2 224903221 . C . . NT END=225244289;NT GT ./. 2 224926708 rs3997613 C CGTGTGT 8 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=218;NP=4;NP=5;NP=6;NP=9;PC=0.007;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,CGTGTGT:8:4:3:0:5,3:173,92:0.00,8.33:0.00,-0.72:0.00,9.05:0.00,0.67:0.00,0.85:0.00,0.90:60,60:2.6,23.0:0,0:0,0:87,84:35,67:18,4:-,chr2 g.224926708_224926709insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 225244926 . C . . NT END=225265753;NT GT ./. 2 225265645 rs13010329 G A 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=FAM124B/NM_001122779.1/0;CC=c.732+109C>T;VC=Intron;Gene=FAM124B/NM_024785.2/1;CC=c.732+109C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:31:0:0:12,19:389,612:35.64,0.00:32.59,0.00:3.05,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:37.2,9.1:0,0:0,0:49,45:101,105:34,38:NM_001122779.1(FAM124B) c.732+109C>T,-:0.18,-:NOT_FOUND,- 2 225266486 . G . . NT END=225338961;NT GT ./. 2 225266667 rs3845837 G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=FAM124B/NM_001122779.1/0;CC=c.-182C>T;VC=5UTR;Gene=FAM124B/NM_024785.2/1;CC=c.-182C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:13:0:0:0:8,5:273,139:27.37,0.00:0.00,0.00:27.37,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.4,16.8:0,0:0,0:97,31:53,118:18,17:NM_001122779.1(FAM124B) c.-182C>T,-:0.12,-:NOT_FOUND,- 2 225266725 rs3845838 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:C,T:11:0:0:0:6,5:183,173:0.00,16.39:0.00,0.00:0.00,16.39:0.00,0.93:0.00,0.00:0.00,0.93:60,60:14.0,57.8:0,0:0,0:84,58:65,93:28,16:-,NM_001122779.1(FAM124B) c.-226-u14G>A:-,0.13:-,NOT_FOUND 2 225339094 . C . . NT END=225342916;NT GT ./. 2 225343063 . C . . NT END=225346608;NT GT ./. 2 225346796 . C . . NT END=225360548;NT GT ./. 2 225360684 . C . . NT END=225362469;NT GT ./. 2 225362567 . C . . NT END=225365079;NT GT ./. 2 225365205 . C . . NT END=225367681;NT GT ./. 2 225367790 . C . . NT END=225368368;NT GT ./. 2 225368540 . C . . NT END=225370672;NT GT ./. 2 225370850 . C . . NT END=225371574;NT GT ./. 2 225371721 . C . . NT END=225376070;NT GT ./. 2 225376032 rs6743816 G C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.161;Gene=CUL3/NM_001257198.1/0;CC=c.901+39C>G;VC=Intron;Gene=CUL3/NM_001257197.1/0;CC=c.685+39C>G;VC=Intron;Gene=CUL3/NM_003590.4/1;CC=c.883+39C>G;VC=Intron;DM=CUL3/Cullin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:20:0:0:13,8:441,260:44.24,0.00:41.62,0.00:2.62,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:38.2,6.0:0,0:0,0:34,35:116,115:10,10:NM_003590.4(CUL3) c.883+39C>G,-:0.24,-:0.274154,- 2 225376300 . C . . NT END=225378240;NT GT ./. 2 225378359 . T . . NT END=225379328;NT GT ./. 2 225378382 rs542199816 ATAAT A 65 nt VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1032;PC=0.001;Gene=CUL3/NM_001257198.1/0;CC=c.558-31_558-28delATTA;VC=Intron;Gene=CUL3/NM_001257197.1/0;CC=c.342-31_342-28delATTA;VC=Intron;Gene=CUL3/NM_003590.4/1;CC=c.540-31_540-28delATTA;VC=Intron;DM=CUL3/Cullin;DM=CUL3/Cullin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAAT,C,A:41:16:0:21:19,1,21:581,13,668:0.00,0.17,64.84:0.00,-0.06,18.80:0.00,0.23,46.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:14.2,90.0,4.6:0,0,0:0,0,0:91,83,80:60,68,70:37,0,26:-,NM_003590.4(CUL3) c.540-31_540-28delATTA:-,0.24:-,0.275196 2 225379490 . C . . NT END=225400244;NT GT ./. 2 225400359 . C . . NT END=225422375;NT GT ./. 2 225422574 . C . . NT END=225434405;NT GT ./. 2 225434543 . A . . NT END=225449660;NT GT ./. 2 225449727 . G . . NT END=225630437;NT GT ./. 2 225555619 rs6147195 C CTGTGTG 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=16;NP=23;NP=4;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,CTGTGTG:4:5:3:0:2,2:70,101:0.00,6.41:0.00,6.53:0.00,-0.11:0.00,0.46:0.00,0.46:0.00,0.80:60,60:0.0,21.0:0,1:0,0:80,56:42,72:11,25:-,chr2 g.225555619_225555620insTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 225630233 rs1045654 C T 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.968;Gene=DOCK10/NM_001290263.1/0;CC=c.*205G>A;VC=3UTR;Gene=DOCK10/NM_014689.2/1;CC=c.*205G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:8:8:0:0:3,5:89,159:0.00,15.99:0.00,15.99:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:47.3,38.2:0,0:0,0:81,34:70,117:27,30:-,NM_014689.2(DOCK10) c.*205G>A:-,0.68:-,NOT_FOUND 2 225630555 . C . . NT END=225634927;NT GT ./. 2 225634693 rs1565073 T G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=DOCK10/NM_001290263.1/0;CC=c.6426+235A>C;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.6444+235A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:G,T:10:10:0:0:7,3:171,94:17.71,0.00:17.71,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.1,3.0:0,0:0,0:55,9:96,141:23,9:NM_014689.2(DOCK10) c.6444+235A>C,-:0.65,-:NOT_FOUND,- 2 225635067 . C . . NT END=225635261;NT GT ./. 2 225635363 . C . . NT END=225637873;NT GT ./. 2 225638065 . C . . NT END=225639621;NT GT ./. 2 225639833 . C . . NT END=225642854;NT GT ./. 2 225643002 . C . . NT END=225649453;NT GT ./. 2 225649460 . C . . NT END=225651738;NT GT ./. 2 225651853 . C . . NT END=225651991;NT GT ./. 2 225652115 . C . . NT END=225653780;NT GT ./. 2 225653888 . C . . NT END=225657690;NT GT ./. 2 225657790 . C . . NT END=225658116;NT GT ./. 2 225658175 . C . . NT END=225659595;NT GT ./. 2 225659812 . C . . NT END=225661032;NT GT ./. 2 225661144 . C . . NT END=225661680;NT GT ./. 2 225661852 rs76100309 C T 108 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=75;Gene=DOCK10/NM_001290263.1/0;CC=c.4638G>A;ProtCh=p.A1546=;VC=Silent;Gene=DOCK10/NM_014689.2/1;CC=c.4656G>A;ProtCh=p.A1552=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:43:0:0:41,34:1251,1143:0.00,108.14:0.00,38.15:0.00,69.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.1,41.9:0,0:0,0:94,74:54,69:27,27:-,NM_014689.2(DOCK10) c.4656G>A (p.(=)):-,0.01:-,0.011268 2 225661864 . C . . NT END=225662548;NT GT ./. 2 225661960 . C CT 10 rn VT=INS;SST=Single;DP=28;Gene=DOCK10/NM_001290263.1/0;CC=c.4627-98dupA;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.4645-98dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,CT,D:28:3:4:2:22,4,2:596,126,63:0.00,9.67,4.26:0.00,-0.10,1.27:0.00,9.77,2.99:0.00,0.66,0.00:0.00,0.42,0.00:0.00,0.95,0.00:60,60,60:27.8,24.8,33.5:0,0,0:0,0,0:107,87,116:43,63,35:28,22,17:-,NM_014689.2(DOCK10) c.4645-98_4645-97insA:-,NOT_FOUND:-,NOT_FOUND 2 225661982 rs398081108 AT A 26 idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=292;PC=0.018;Gene=DOCK10/NM_001290263.1/0;CC=c.4627-120delA;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.4645-120delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:20:1:2:10:9,2,9:260,64,304:0.00,4.92,25.99:0.00,-0.02,-0.12:0.00,4.94,26.12:0.00,0.00,1.00:0.00,0.00,0.62:0.00,0.00,1.00:60,60,60:27.8,0.0,23.3:0,0,1:0,0,0:126,60,117:24,90,33:22,44,13:-,NM_014689.2(DOCK10) c.4645-120delA:-,NOT_FOUND:-,NOT_FOUND 2 225662687 . C . . NT END=225664867;NT GT ./. 2 225664981 . C . . NT END=225666632;NT GT ./. 2 225665074 rs1560859 G A 59 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=DOCK10/NM_001290263.1/0;CC=c.4376-94C>T;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.4394-94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:0:0:0:17:509:58.95:0.00:58.95:1.00:0.00:1.00:60:42.5:0:0:102:48:38:NM_014689.2(DOCK10) c.4394-94C>T,NM_014689.2(DOCK10) c.4394-94C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 2 225665193 rs6717059 C T 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=DOCK10/NM_001290263.1/0;CC=c.4376-213G>A;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.4394-213G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:193:22.16:0.00:22.16:1.00:0.00:1.00:60:86.2:0:0:124:26:18:NM_014689.2(DOCK10) c.4394-213G>A,NM_014689.2(DOCK10) c.4394-213G>A:0.65,0.65:NOT_FOUND,NOT_FOUND 2 225666758 . C . . NT END=225668828;NT GT ./. 2 225668717 rs141021252 ATG A 8 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=106;Gene=DOCK10/NM_001290263.1/0;CC=c.4250+110_4250+111delCA;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.4268+110_4268+111delCA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:ATG,A:16:16:0:4:12,4:342,97:0.00,7.72:0.00,7.79:0.00,-0.06:0.00,0.75:0.00,0.75:0.00,0.50:60,60:14.2,7.8:0,0:0,0:81,26:48,123:36,11:-,NM_014689.2(DOCK10) c.4268+110_4268+111delCA:-,NOT_FOUND:-,NOT_FOUND 2 225668931 . C . . NT END=225669510;NT GT ./. 2 225669559 . C . . NT END=225669774;NT GT ./. 2 225669842 . C . . NT END=225669922;NT GT ./. 2 225670038 . C . . NT END=225670124;NT GT ./. 2 225670247 . C . . NT END=225670842;NT GT ./. 2 225670955 . C . . NT END=225672384;NT GT ./. 2 225672502 . C . . NT END=225672627;NT GT ./. 2 225672804 . C . . NT END=225679036;NT GT ./. 2 225679082 . C . . NT END=225681333;NT GT ./. 2 225681431 . C . . NT END=225684162;NT GT ./. 2 225684247 . C . . NT END=225688217;NT GT ./. 2 225688365 . C . . NT END=225695257;NT GT ./. 2 225695330 . C . . NT END=225698866;NT GT ./. 2 225698981 . C . . NT END=225702478;NT GT ./. 2 225702549 . C . . NT END=225704670;NT GT ./. 2 225704790 . C . . NT END=225706520;NT GT ./. 2 225706614 . C . . NT END=225709469;NT GT ./. 2 225709557 . C . . NT END=225709919;NT GT ./. 2 225710042 . C . . NT END=225710235;NT GT ./. 2 225710122 rs79773335 C T 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=32;Gene=DOCK10/NM_001290263.1/0;CC=c.2342-81G>A;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.2360-81G>A;VC=Intron;DM=DOCK10/DOCK-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:21:0:0:20,16:610,530:0.00,49.92:0.00,27.56:0.00,22.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,45.8:0,0:0,0:88,77:62,72:30,26:-,NM_014689.2(DOCK10) c.2360-81G>A:-,0.01:-,NOT_FOUND 2 225710360 . C . . NT END=225714223;NT GT ./. 2 225710446 . C CT 7 rn VT=INS;SST=Single;DP=28;NP=4;Gene=DOCK10/NM_001290263.1/0;CC=c.2218-88_2218-87insA;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.2236-88_2236-87insA;VC=Intron;DM=DOCK10/DOCK-C2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,CT,D:28:7:3:3:22,3,3:742,97,76:0.00,7.14,5.10:0.00,-0.20,-0.20:0.00,7.34,5.29:0.00,0.44,0.00:0.00,0.51,0.00:0.00,0.88,0.00:60,60,60:12.1,4.0,51.7:0,0,0:0,0,0:122,63,128:23,88,22:21,8,4:-,NM_014689.2(DOCK10) c.2236-88_2236-87insA:-,NOT_FOUND:-,NOT_FOUND 2 225714317 . C . . NT END=225717093;NT GT ./. 2 225717160 . C . . NT END=225717651;NT GT ./. 2 225717840 . C . . NT END=225719679;NT GT ./. 2 225719571 rs375844614 GCCAA G 20 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=60;Gene=DOCK10/NM_001290263.1/0;CC=c.1870+105_1870+108delTTGG;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.1888+105_1888+108delTTGG;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCCAA,G:19:19:0:7:12,7:334,224:0.00,20.33:0.00,20.33:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.8,2.4:0,0:0,0:108,46:40,105:20,22:-,NM_014689.2(DOCK10) c.1888+105_1888+108delTTGG:-,NOT_FOUND:-,NOT_FOUND 2 225719760 . C . . NT END=225721576;NT GT ./. 2 225719781 rs60658292 G GAC 21 idl,rn VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=4;NP=6;PC=0.034;Gene=DOCK10/NM_001290263.1/0;CC=c.1791-23_1791-22insGT;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.1809-23_1809-22insGT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,G,GAC,D:43:27:8:6:2,29,8,4:43,909,255,158:2.02,0.00,20.87,8.85:-0.23,0.00,17.99,2.26:2.25,0.00,2.88,6.59:0.00,0.00,0.97,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.99,0.00:60,60,60,60:67.0,10.0,6.2,4.5:0,0,0,1:0,0,0,0:87,108,74,73:55,38,60,78:10,22,11,12:-,NM_014689.2(DOCK10) c.1809-23_1809-22insGT:-,NOT_FOUND:-,NOT_FOUND 2 225721700 . C . . NT END=225727380;NT GT ./. 2 225727464 . C . . NT END=225729269;NT GT ./. 2 225729224 rs369411005 TA T 25 idl,rn VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=28;Gene=DOCK10/NM_001290263.1/0;CC=c.1584+45delT;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.1602+45delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:57:51:3:11:45,2,10:1304,96,347:0.00,3.55,24.86:0.00,1.81,19.30:0.00,1.74,5.56:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.95:60,60,60:14.9,0.0,3.3:0,1,1:0,0,0:46,65,53:97,86,90:24,8,31:-,NM_014689.2(DOCK10) c.1602+45delT:-,NOT_FOUND:-,0.132533 2 225729393 . C . . NT END=225729582;NT GT ./. 2 225729805 . C . . NT END=225738712;NT GT ./. 2 225738869 . C . . NT END=225738982;NT GT ./. 2 225739067 . C . . NT END=225739382;NT GT ./. 2 225739469 . C . . NT END=225740754;NT GT ./. 2 225740939 . C . . NT END=225750387;NT GT ./. 2 225750523 . C . . NT END=225750779;NT GT ./. 2 225750903 . C . . NT END=225751175;NT GT ./. 2 225751249 . C . . NT END=225761011;NT GT ./. 2 225751256 rs71734299 TA T 10 idl,rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=350;Gene=DOCK10/NM_001290263.1/0;CC=c.399-9delT;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.417-9delT;VC=Intron;DM=DOCK10/DHR-2;DM=DOCK10/DUF3398;DM=DOCK10/DUF3398;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:TA,I,T:37:20:4:5:29,4,4:929,125,165:0.00,9.10,9.90:0.00,3.34,3.69:0.00,5.76,6.21:0.00,0.00,0.60:0.00,0.00,0.80:0.00,0.00,0.91:60,60,60:12.2,2.8,0.0:0,0,1:0,0,0:113,114,109:37,36,42:23,15,22:-,NM_014689.2(DOCK10) c.417-9delT:-,NOT_FOUND:-,NOT_FOUND 2 225752936 rs113299591 CTG C,CTGTG 12 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=20;PC=0.004;DM=DOCK10/DHR-2;DM=DOCK10/DUF3398;DM=DOCK10/DUF3398 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:CTGTG,C:5:4:4:1:4,1:103,34:11.77,3.18:7.11,1.59:4.66,1.59:0.96,0.00:1.00,0.00:1.00,0.00:60,60:20.0,0.0:0,0:0,0:63,88:87,51:28,0:NM_014689.2(DOCK10) c.417-1690_417-1689delCA,NM_014689.2(DOCK10) c.417-1690_417-1689dupCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 225761095 . C . . NT END=225781411;NT GT ./. 2 225781257 . CAAAA C 9 idl,nt VT=DEL;SST=Single;DP=13;Gene=DOCK10/NM_001290263.1/0;CC=c.315+151_315+154delTTTT;VC=Intron;Gene=DOCK10/NM_014689.2/1;CC=c.333+151_333+154delTTTT;VC=Intron;DM=DOCK10/DHR-2;DM=DOCK10/DUF3398;DM=DOCK10/DUF3398;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CAAAA,C:9:13:0:7:6,3:202,227:0.00,8.84:0.00,8.84:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,60:48.2,28.0:0,4:0,0:75,51:60,100:34,36:-,NM_014689.2(DOCK10) c.333+151_333+154delTTTT:-,NOT_FOUND:-,NOT_FOUND 2 225781502 . C . . NT END=225796265;NT GT ./. 2 225796263 rs144132079 T C 81 nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=1.000;Gene=DOCK10/NM_001290263.1/0;CC=c.225+3A>G;VC=Intergenic;Gene=DOCK10/NM_014689.2/1;CC=c.243+3A>G;VC=Intergenic;DM=DOCK10/DHR-2;DM=DOCK10/DUF3398;DM=DOCK10/DUF3398 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:60:47:0:0:1,25,34:8,869,1054:-0.15,81.38,0.00:-0.17,53.43,0.00:0.01,27.94,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:55.0,43.9,8.2:0,0,0:0,0,0:50,47,60:101,94,90:0,27,36:NM_014689.2(DOCK10) c.243+3A>G,-:0.01,-:0.011128,- 2 225796386 . C . . NT END=225811563;NT GT ./. 2 225811783 . G . . NT END=225846923;NT GT ./. 2 225847246 . G . . NT END=225906968;NT GT ./. 2 225847515 rs398105389 A AT 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=490;PC=0.004;Gene=DOCK10/NM_014689.2/1;CC=c.124-51131dupA;VC=Intron;DM=DOCK10/DHR-2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,AT:5:0:5:0:1,4:33,155:0.00,12.93:0.00,0.00:0.00,12.93:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,46.0:0,1:0,0:141,126:9,25:0,7:-,NM_014689.2(DOCK10) c.124-51131_124-51130insA:-,NOT_FOUND:-,NOT_FOUND 2 225907092 . C . . NT END=226273596;NT GT ./. 2 226125602 rs377107579 G GCGCGCACACACACA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=32;NP=43;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GCGCGCACACACACA:4:4:4:0:4:130:14.91:11.18:3.73:1.00:1.00:1.00:60:24.0:0:0:72:64:18:chr2 g.226125602_226125603insCGCGCACACACACA (intergenic),chr2 g.226125602_226125603insCGCGCACACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 226210416 rs56855911 T TAG 14 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=14;NP=25;NP=46;NP=82;PC=0.051;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TAG:5:5:4:0:1,4:33,132:0.00,14.02:0.00,8.85:0.00,5.17:0.00,0.96:0.00,0.96:0.00,1.00:60,60:33.0,21.8:0,0:0,0:22,36:92,104:0,14:-,chr2 g.226210416_226210417insAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 226210522 rs1579778 A G 7 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:4:3:0:0:2,2:63,70:0.00,6.75:0.00,3.53:0.00,3.22:0.00,0.51:0.00,0.89:0.00,0.51:60,60:14.5,35.0:0,0:0,0:135,135:13,-34:14,1:-,chr2 g.226210521A>G (intergenic):-,0.58:-,NOT_FOUND 2 226273490 rs2048935 T C 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NYAP2/NM_020864.1/1;CC=c.-17-90T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:336:38.37:38.37:0.00:1.00:1.00:0.00:60:37.1:0:0:45:105:32:NM_020864.1(NYAP2) c.-17-90T>C,NM_020864.1(NYAP2) c.-17-90T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 2 226273689 rs2048936 T C 183 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NYAP2/NM_020864.1/1;CC=c.93T>C;ProtCh=p.Y31=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:39:0:0:51:1587:182.89:107.18:75.71:1.00:1.00:1.00:60:33.7:0:0:76:72:40:NM_020864.1(NYAP2) c.93T>C (p.(=)),NM_020864.1(NYAP2) c.93T>C (p.(=)):0.8,0.8:0.857499,0.857499 2 226273818 . G . . NT END=226378086;NT GT ./. 2 226375460 rs6436564 G A 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=NYAP2/NM_020864.1/1;CC=c.222-2627G>A;VC=Intron;DM=NYAP2/NYAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,G:4:4:0:0:3,1:101,36:10.55,0.00:7.15,0.00:3.40,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:40.7,0.0:0,0:0,0:75,67:76,84:5,0:NM_020864.1(NYAP2) c.222-2627G>A,-:0.33,-:NOT_FOUND,- 2 226375495 . TTG T,TTGTG 10 idl,nt VT=INS;SST=Single;DP=5;NP=8;PC=0.324;DM=NYAP2/NYAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:TTG,TTGTG,T:5:5:3:1:1,3,1:33,101,34:0.00,10.47,3.08:0.00,5.03,1.49:0.00,5.43,1.59:0.00,0.78,0.00:0.00,0.78,0.00:0.00,0.97,0.00:60,60,60:34.0,51.7,0.0:0,0,0:0,0,0:115,74,102:35,55,49:0,19,0:NM_020864.1(NYAP2) c.222-2591_222-2590delTG,NM_020864.1(NYAP2) c.222-2590_222-2589insTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 226375537 rs7576524 A G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.125;Gene=NYAP2/NM_020864.1/1;CC=c.222-2550A>G;VC=Intron;DM=NYAP2/NYAP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:3:0:0:1,3:34,103:0.00,10.75:0.00,3.50:0.00,7.25:0.00,0.85:0.00,0.99:0.00,0.85:60,60:0.0,56.0:0,0:0,0:142,118:9,11:0,19:-,NM_020864.1(NYAP2) c.222-2550A>G:-,0.33:-,NOT_FOUND 2 226378389 . G . . NT END=226446656;NT GT ./. 2 226447735 rs3828256 C T 221 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=152;DB;DBA=NA;PAF=NA;PC=0.989;Gene=NYAP2/NM_020864.1/1;CC=c.1602C>T;ProtCh=p.S534=;VC=Silent;DM=NYAP2/NYAP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:152:83:0:0:81,71:2694,2324:0.00,220.62:0.00,98.28:0.00,122.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,44.3:0,0:0,0:90,96:51,52:41,31:-,NM_020864.1(NYAP2) c.1602C>T (p.(=)):-,0.55:-,0.552353 2 226447752 . G . . NT END=226491632;NT GT ./. 2 226447844 rs6436570 G A 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;Gene=NYAP2/NM_020864.1/1;CC=c.1618+93G>A;VC=Intron;DM=NYAP2/NYAP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:14:0:0:33,30:1091,917:105.94,0.00:15.62,0.00:90.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.4,7.5:0,0:0,0:89,111:62,38:35,24:NM_020864.1(NYAP2) c.1618+93G>A,-:0.94,-:NOT_FOUND,- 2 226491770 rs3748993 A C 138 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=NA;PC=0.331;Gene=NYAP2/NM_020864.1/1;CC=c.1756A>C;ProtCh=p.T586P;VC=Missense;DM=NYAP2/NYAP_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:96:57:0:0:52,44:1668,1458:0.00,138.02:0.00,54.40:0.00,83.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,39.8:0,0:0,0:79,65:56,80:33,33:-,NM_020864.1(NYAP2) c.1756A>C (p.Thr586Pro):-,0.94:-,0.961917 2 226491843 . G . . NT END=226516147;NT GT ./. 2 226516282 . C . . NT END=227659725;NT GT ./. 2 226516429 rs3791734 A G 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.927;Gene=NYAP2/NM_020864.1/1;CC=c.*148A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:0:0:0:7,8:196,254:0.00,24.72:0.00,0.00:0.00,24.72:0.00,1.00:0.00,0.00:0.00,1.00:60,60:27.4,33.2:0,0:0,0:69,103:82,46:31,25:-,NM_020864.1(NYAP2) c.*148A>G:-,0.53:-,NOT_FOUND 2 226520601 rs372646871 TACAC T 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=13;PC=0.002;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:TACAC,T:4:5:0:3:2,2:72,102:0.00,6.51:0.00,3.15:0.00,3.37:0.00,0.46:0.00,0.46:0.00,0.80:60,60:35.5,0.0:0,1:0,0:110,96:41,55:32,4:-,chr2 g.226520602_226520605delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 227519110 rs6147205 T TACACACACACACACACAC 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=13;NP=137;NP=2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:T,TACACACACACACACACAC:4:3:3:0:2,2:40,100:0.00,6.34:0.00,3.27:0.00,3.07:0.00,0.46:0.00,0.80:0.00,0.80:53,60:39.5,9.5:0,1:0,0:67,79:28,71:35,5:-,chr2 g.227519110_227519111insACACACACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 227524784 rs61495380 A AGTGTGT 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=34;NP=5;PC=0.004;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AGTGTGT:5:5:2:0:3,2:77,68:0.00,6.30:0.00,4.56:0.00,1.74:0.00,0.46:0.00,0.46:0.00,0.60:60,60:29.3,11.5:0,0:0,0:19,43:123,99:4,8:-,NR_049887.1(MIR5702) n.-1276_-1275insACACAC:-,NOT_FOUND:-,NOT_FOUND 2 227646581 rs398042964 TAC T 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;Gene=IRS1/NM_005544.2/1;CC=c.*21+13122_*21+13123delGT;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TAC,T:5:5:0:4:2,3:67,129:0.00,9.93:0.00,4.81:0.00,5.11:0.00,0.73:0.00,0.96:0.00,0.96:60,60:39.0,3.7:0,1:0,0:112,54:37,78:27,4:-,NM_005544.2(IRS1) c.*21+13122_*21+13123delGT:-,NOT_FOUND:-,NOT_FOUND 2 227659840 . T G 12 sb VT=SNV;PN=G;NN=G;SST=Single;DP=101;NP=12;Gene=IRS1/NM_005544.2/1;CC=c.3615A>C;ProtCh=p.P1205=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:12:A,C,G,T:101:87:0:0:1,1,12,87:13,10,218,2027:-0.18,-0.28,12.09,0.00:-0.35,-0.25,-2.25,0.00:0.17,-0.02,14.34,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.77,0.00:60,60,60,60:21.0,24.0,53.8,9.2:0,0,0,0:0,0,0,0:27,46,47,88:105,105,66,58:0,0,23,35:NM_005544.2(IRS1) c.3615A>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 227664494 . A . . NT END=227729409;NT GT ./. 2 227729843 . G . . NT END=227731901;NT GT ./. 2 227732035 . G . . NT END=227732281;NT GT ./. 2 227732405 . G . . NT END=227733857;NT GT ./. 2 227732442 . CT C 7 rn VT=DEL;SST=Single;DP=34;PC=0.004;Gene=RHBDD1/NM_001167608.1/1;CC=c.566+418delT;VC=Intron;Gene=RHBDD1/NM_032276.3/0;CC=c.566+418delT;VC=Intron;DM=RHBDD1/Rhomboid;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:CT,I,C:34:14:1:3:30,1,3:925,33,99:0.00,1.86,6.97:0.00,-0.12,5.17:0.00,1.98,1.80:0.00,0.00,0.40:0.00,0.00,0.63:0.00,0.00,0.79:60,60,60:27.2,0.0,0.0:0,0,0:0,0,0:113,131,105:29,20,46:32,0,12:-,NM_001167608.1(RHBDD1) c.566+409delT:-,NOT_FOUND:-,NOT_FOUND 2 227733937 . T . . NT END=227760359;NT GT ./. 2 227760545 . T . . NT END=227771508;NT GT ./. 2 227771389 rs978909 T G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=RHBDD1/NM_001167608.1/1;CC=c.567-120T>G;VC=Intron;Gene=RHBDD1/NM_032276.3/0;CC=c.567-120T>G;VC=Intron;DM=RHBDD1/Rhomboid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:15:15:0:0:8,7:214,232:20.70,0.00:20.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.6,0.0:0,0:0,0:37,32:113,118:34,9:NM_001167608.1(RHBDD1) c.567-120T>G,-:0.46,-:NOT_FOUND,- 2 227771598 . G . . NT END=227773537;NT GT ./. 2 227773298 rs10559846 TAC T 10 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=41;Gene=RHBDD1/NM_001167608.1/1;CC=c.656-202_656-201delCA;VC=Intron;Gene=RHBDD1/NM_032276.3/0;CC=c.656-202_656-201delCA;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:TAC,T:6:7:0:4:3,3:105,133:0.00,9.60:0.00,8.09:0.00,1.51:0.00,0.69:0.00,0.69:0.00,0.83:60,60:4.3,3.3:0,1:0,0:49,32:79,118:23,18:-,NM_001167608.1(RHBDD1) c.656-239_656-238delAC:-,NOT_FOUND:-,NOT_FOUND 2 227773354 rs74659334 G GAC 21 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=718;Gene=RHBDD1/NM_001167608.1/1;CC=c.656-173_656-172dupAC;VC=Intron;Gene=RHBDD1/NM_032276.3/0;CC=c.656-173_656-172dupAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:G,GAC:10:10:7:0:3,7:96,207:0.00,21.38:0.00,14.95:0.00,6.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,24.9:0,0:0,0:104,53:47,79:1,19:-,NM_001167608.1(RHBDD1) c.656-184_656-183insAC:-,NOT_FOUND:-,NOT_FOUND 2 227773466 rs3820928 T C 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=RHBDD1/NM_001167608.1/1;CC=c.656-72T>C;VC=Intron;Gene=RHBDD1/NM_032276.3/0;CC=c.656-72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:16:0:0:12,8:405,258:40.38,0.00:25.58,0.00:14.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,1.6:0,0:0,0:44,14:105,128:18,7:NM_001167608.1(RHBDD1) c.656-72T>C,-:0.42,-:0.426194,- 2 227773595 . G . . NT END=227778923;NT GT ./. 2 227779068 . G . . NT END=227853047;NT GT ./. 2 227779191 rs3820927 C A 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=RHBDD1/NM_001167608.1/1;CC=c.856+124C>A;VC=Intron;Gene=RHBDD1/NM_032276.3/0;CC=c.856+124C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:0:0:0:11,15:306,464:28.11,0.00:0.00,0.00:28.11,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.9,20.0:0,0:0,0:102,121:49,29:32,19:NM_001167608.1(RHBDD1) c.856+124C>A,-:0.43,-:NOT_FOUND,- 2 227853449 . A . . NT END=227860146;NT GT ./. 2 227860239 . G . . NT END=227872040;NT GT ./. 2 227860304 rs62189812 C T 31 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=9;PC=0.003;Gene=RHBDD1/NM_001167608.1/1;CC=c.*66C>T;VC=3UTR;Gene=RHBDD1/NM_032276.3/0;CC=c.*66C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:4:0:0:10,11:315,322:0.00,31.10:0.00,-0.64:0.00,31.75:0.00,1.00:0.00,0.95:0.00,1.00:60,60:1.0,41.3:0,0:0,0:126,81:22,48:18,34:-,NM_001167608.1(RHBDD1) c.*66C>T:-,0.0005:-,NOT_FOUND 2 227872182 rs2228557 G A 158 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=110;DB;DBA=NA;PAF=NA;PC=1.000;Gene=COL4A4/NM_000092.4/1;CC=c.4932C>T;ProtCh=p.F1644=;VC=Silent;DM=COL4A4/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:110:68:0:0:51,59:1669,1902:158.23,0.00:74.55,0.00:83.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,9.2:0,0:0,0:58,67:87,84:37,41:NM_000092.4(COL4A4) c.4932C>T (p.(=)),-:0.46,-:0.46041,- 2 227872305 . C . . NT END=227872733;NT GT ./. 2 227872617 rs9288618 A G 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4809+117T>C;VC=Intron;DM=COL4A4/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:23:0:0:12,13:369,424:0.00,41.10:0.00,34.21:0.00,6.89:0.00,1.00:0.00,1.00:0.00,0.81:60,60:5.9,38.5:0,0:0,0:66,36:84,115:20,35:-,NM_000092.4(COL4A4) c.4809+117T>C:-,0.48:-,NOT_FOUND 2 227872995 rs2228555 T C 155 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4548A>G;ProtCh=p.V1516=;VC=Silent;DM=COL4A4/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:108:50:0:0:52,56:1628,1608:155.16,0.00:47.95,0.00:107.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.5,7.7:0,0:0,0:84,87:62,62:40,33:NM_000092.4(COL4A4) c.4548A>G (p.(=)),-:0.6,-:0.585705,- 2 227873021 . C . . NT END=227875028;NT GT ./. 2 227873028 rs13419076 A G 107 nt VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4523-8T>C;VC=Intron;DM=COL4A4/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:83:28:0:0:45,37,1:1422,1143,11:0.00,107.42,-0.09:0.00,19.50,-0.05:0.00,87.92,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.5,73.1,214.0:0,0,0:0,0,0:86,82,129:64,67,22:31,22,0:-,NM_000092.4(COL4A4) c.4523-8T>C:-,0.46:-,0.454801 2 227874957 rs4423583 C T 51 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4522+72G>A;VC=Intron;DM=COL4A4/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:39:0:0:21,19:724,537:0.00,50.68:0.00,47.99:0.00,2.69:0.00,1.00:0.00,1.00:0.00,0.95:60,60:6.2,36.3:0,0:0,0:31,31:120,120:15,14:-,NM_000092.4(COL4A4) c.4522+72G>A:-,0.46:-,NOT_FOUND 2 227875218 . C . . NT END=227876896;NT GT ./. 2 227875360 rs10182307 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4334-143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:7,8:199,241:18.74,0.00:0.00,0.00:18.74,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:63.6,27.2:0,0:0,0:119,76:31,75:17,25:NM_000092.4(COL4A4) c.4334-143C>T,-:0.46,-:NOT_FOUND,- 2 227875369 rs10194663 T A 19 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4334-152A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:15:0:0:0:7,8:206,247:19.44,0.00:0.00,0.00:19.44,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:63.6,27.2:0,0:0,0:128,85:22,66:17,25:NM_000092.4(COL4A4) c.4334-152A>T,-:0.46,-:NOT_FOUND,- 2 227877014 . C . . NT END=227886763;NT GT ./. 2 227877037 rs10188770 G A 107 nt VT=SNV;PN=G;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4217-24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:71:35:0:0:36,35:1117,1143:107.39,0.00:28.54,0.00:78.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.7,5.8:0,0:0,0:114,100:34,47:20,13:NM_000092.4(COL4A4) c.4217-24C>T,-:0.47,-:0.471249,- 2 227886773 rs3752895 A G 146 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=NA;PC=0.996;Gene=COL4A4/NM_000092.4/1;CC=c.4207T>C;ProtCh=p.S1403P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:86:0:0:50,47:1629,1530:0.00,146.25:0.00,96.08:0.00,50.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,38.8:0,0:0,0:46,57:93,93:26,26:-,NM_000092.4(COL4A4) c.4207T>C (p.Ser1403Pro):-,0.48:-,0.478246 2 227886890 . C . . NT END=227890517;NT GT ./. 2 227886925 rs3752896 C T 89 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4091-36G>A;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:25:0:0:39,29:1141,952:0.00,89.04:0.00,23.36:0.00,65.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,38.1:0,0:0,0:86,97:59,52:28,26:-,NM_000092.4(COL4A4) c.4091-36G>A:-,0.41:-,0.411268 2 227890527 . C . . NT END=227892617;NT GT ./. 2 227892428 rs10199655 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.4083+188A>G;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:8:8:0:0:3,5:79,164:7.02,0.00:7.02,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:69.0,3.6:0,0:0,0:68,25:83,126:15,9:NM_000092.4(COL4A4) c.4081+190A>G,-:0.45,-:NOT_FOUND,- 2 227892619 rs2228556 C T 63 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=1.000;Gene=COL4A4/NM_000092.4/1;CC=c.4080G>A;ProtCh=p.P1360=;VC=Silent;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:47:0:0:42,21:1266,705:0.00,63.14:0.00,49.01:0.00,14.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,58.9:0,0:0,0:34,57:114,91:18,32:-,NM_000092.4(COL4A4) c.4080G>A (p.(=)):-,0.45:-,0.454637 2 227892720 rs2229813 C T 53 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=NA;PC=0.697;Gene=COL4A4/NM_000092.4/1;CC=c.3979G>A;ProtCh=p.V1327M;VC=Missense;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:40:0:0:48,21:1555,609:0.00,52.50:0.00,24.76:0.00,27.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,68.4:0,0:0,0:96,98:48,47:28,26:-,NM_000092.4(COL4A4) c.3979G>A (p.Val1327Met):-,0.45:-,0.45483 2 227892726 . C . . NT END=227895158;NT GT ./. 2 227892728 rs200823182 T TA 10 rn VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=NA;NP=10;PC=0.121;Gene=COL4A4/NM_000092.4/1;CC=c.3974-4dupT;VC=Intron;DM=COL4A4/Collagen;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T,TA:64:36:5:0:1,58,5:10,1778,156:-0.25,0.00,10.42:-0.16,0.00,1.91:-0.09,0.00,8.51:0.00,0.00,0.68:0.00,0.00,0.85:0.00,0.00,0.94:60,60,60:184.0,21.0,5.0:0,0,0:0,0,0:51,105,71:78,40,80:0,26,11:-,NM_000092.4(COL4A4) c.3974-4_3974-3insT:-,0.02:-,NOT_FOUND 2 227895125 rs1917127 A G 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.3973+34T>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:33:0:0:22,17:721,558:0.00,52.31:0.00,39.43:0.00,12.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,38.6:0,0:0,0:73,28:78,123:30,19:-,NM_000092.4(COL4A4) c.3973+34T>C:-,0.45:-,0.454085 2 227895315 . C . . NT END=227896660;NT GT ./. 2 227896652 rs13423714 C G 73 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.3817+9G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:55:44:0:0:31,23,1:1020,779,11:0.00,72.86,-0.04:0.00,58.31,-0.15:0.00,14.56,0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.6,41.8,65.0:0,0,0:0,0,0:35,55,29:113,96,122:17,26,0:-,NM_000092.4(COL4A4) c.3817+9G>C:-,0.45:-,0.451309 2 227896772 . C . . NT END=227896863;NT GT ./. 2 227896886 rs2229812 C T 95 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=0.136;Gene=COL4A4/NM_000092.4/1;CC=c.3684G>A;ProtCh=p.K1228=;VC=Silent;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:91:76:0:0:1,56,34:7,1885,1050:-0.22,0.00,95.28:-0.14,0.00,58.97:-0.08,0.00,36.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.0,6.3,48.4:0,0,0:0,0,0:99,67,54:52,80,82:0,34,31:-,NM_000092.4(COL4A4) c.3684G>A (p.(=)):-,0.45:-,0.452558 2 227896976 rs10203363 C T 88 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=0.977;Gene=COL4A4/NM_000092.4/1;CC=c.3594G>A;ProtCh=p.G1198=;VC=Silent;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:49:0:0:46,31:1470,954:0.00,87.62:0.00,38.05:0.00,49.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,65.3:0,0:0,0:100,82:49,61:27,33:-,NM_000092.4(COL4A4) c.3594G>A (p.(=)):-,0.45:-,0.451201 2 227896993 . C . . NT END=227898125;NT GT ./. 2 227897076 rs10179756 A G 56 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.3578-84T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:12:0:0:25,20:820,602:0.00,56.30:0.00,13.41:0.00,42.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,52.5:0,0:0,0:96,97:55,52:18,36:-,NM_000092.4(COL4A4) c.3578-84T>C:-,0.45:-,NOT_FOUND 2 227898198 . C . . NT END=227906863;NT GT ./. 2 227898434 rs2276593 C T 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.3506-237G>A;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:186:21.46:0.00:21.46:1.00:0.00:1.00:60:46.3:0:0:89:61:39:NM_000092.4(COL4A4) c.3506-237G>A,NM_000092.4(COL4A4) c.3506-237G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 2 227906972 . C . . NT END=227907792;NT GT ./. 2 227907901 . C . . NT END=227912190;NT GT ./. 2 227912266 . C . . NT END=227914783;NT GT ./. 2 227912331 rs2272200 G A 31 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.3215-66C>T;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:6:0:0:11,16:340,551:31.30,0.00:1.11,0.00:30.19,0.00:1.00,0.00:0.94,0.00:1.00,0.00:60,60:37.7,4.1:0,0:0,0:85,111:66,39:37,25:NM_000092.4(COL4A4) c.3215-66C>T,-:0.52,-:NOT_FOUND,- 2 227914625 rs2272202 T C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.3214+159A>G;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:13:0:0:6,7:193,200:18.28,0.00:18.28,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:89.7,7.7:0,0:0,0:30,31:121,120:22,23:NM_000092.4(COL4A4) c.3214+159A>G,-:0.52,-:NOT_FOUND,- 2 227914655 rs2272203 C G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.052;Gene=COL4A4/NM_000092.4/1;CC=c.3214+129G>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:16:0:0:9,7:267,225:0.00,21.08:0.00,21.08:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:9.6,100.1:0,0:0,0:38,59:113,92:23,25:-,NM_000092.4(COL4A4) c.3214+129G>C:-,0.52:-,NOT_FOUND 2 227914848 . C . . NT END=227915692;NT GT ./. 2 227914975 rs2251223 T G 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.022;Gene=COL4A4/NM_000092.4/1;CC=c.3151-128A>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:21:0:0:0:10,11:327,303:31.18,0.00:0.00,0.00:31.18,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.2,9.5:0,0:0,0:111,99:40,51:15,41:NM_000092.4(COL4A4) c.3151-128A>C,-:0.64,-:NOT_FOUND,- 2 227915601 rs2272204 G T 57 nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.3150+92C>A;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:38:37:0:0:1,17,20:12,511,582:0.13,0.00,56.63:0.13,0.00,51.70:0.00,0.00,4.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.90:60,60,60:45.0,6.9,45.0:0,0,0:0,0,0:140,37,27:11,113,120:0,22,12:-,NM_000092.4(COL4A4) c.3150+92C>A:-,0.51:-,NOT_FOUND 2 227915832 rs1800517 G A 140 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=1.000;Gene=COL4A4/NM_000092.4/1;CC=c.3011C>T;ProtCh=p.P1004L;VC=Missense;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:45:0:0:44,44:1454,1351:139.89,0.00:43.76,0.00:96.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,15.5:0,0:0,0:79,58:71,89:32,35:NM_000092.4(COL4A4) c.3011C>T (p.Pro1004Leu),-:0.51,-:0.518593,- 2 227915875 . C . . NT END=227917020;NT GT ./. 2 227916039 rs2894626 T C 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2969-165A>G;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:14:0:0:0:9,5:275,169:27.81,0.00:0.00,0.00:27.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.7,3.8:0,0:0,0:84,74:65,77:17,41:NM_000092.4(COL4A4) c.2969-165A>G,-:0.52,-:NOT_FOUND,- 2 227917129 . C . . NT END=227919309;NT GT ./. 2 227917240 rs3769644 C G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2861-112G>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:17:0:0:0:9,8:264,246:0.00,23.32:0.00,0.00:0.00,23.32:0.00,0.99:0.00,0.00:0.00,0.99:60,60:5.6,69.8:0,0:0,0:89,90:62,60:29,24:-,NM_000092.4(COL4A4) c.2861-112G>C:-,0.52:-,NOT_FOUND 2 227917270 rs3769643 T C 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2861-142A>G;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:C,T:12:0:0:0:6,6:176,198:16.85,0.00:0.00,0.00:16.85,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:76.0,8.3:0,0:0,0:113,100:37,50:12,14:NM_000092.4(COL4A4) c.2861-142A>G,-:0.52,-:NOT_FOUND,- 2 227919454 . C . . NT END=227920660;NT GT ./. 2 227920832 . C . . NT END=227922154;NT GT ./. 2 227921065 rs56950101 TA T 8 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=52;PC=0.334;Gene=COL4A4/NM_000092.4/1;CC=c.2546-235delT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:TA,T:5:0:0:3:2,3:40,79:0.00,7.92:0.00,0.00:0.00,7.92:0.00,0.78:0.00,0.00:0.00,0.78:60,60:60.0,40.7:0,0:0,0:69,90:82,61:10,37:-,NM_000092.4(COL4A4) c.2546-235delT:-,NOT_FOUND:-,NOT_FOUND 2 227921926 rs4296416 G A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2545+229C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G,T:7:7:0:0:4,2,1:103,72,9:10.43,0.00,0.45:10.43,0.00,0.45:0.00,0.00,0.00:0.90,0.00,0.00:0.90,0.00,0.00:0.00,0.00,0.00:60,60,60:132.2,0.0,146.0:0,0,0:0,0,0:29,66,28:121,84,123:7,23,0:NM_000092.4(COL4A4) c.2545+229C>T,-:0.59,-:NOT_FOUND,- 2 227921941 rs4296417 G A 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2545+214C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:9:9:0:0:6,3:155,96:15.79,0.00:15.79,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:129.2,0.0:0,0:0,0:40,58:110,93:7,47:NM_000092.4(COL4A4) c.2545+214C>T,-:0.62,-:NOT_FOUND,- 2 227921977 rs4536647 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2545+178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,G,T:10:10:0:0:4,5,1:112,159,8:0.00,15.58,0.21:0.00,15.58,0.21:0.00,0.00,0.00:0.00,0.95,0.00:0.00,0.95,0.00:0.00,0.00,0.00:60,60,60:5.8,125.8,146.0:0,0,0:0,0,0:65,73,79:85,77,72:34,15,0:-,NM_000092.4(COL4A4) c.2545+178T>C:-,0.62:-,NOT_FOUND 2 227922015 rs4566357 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2545+140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,G:14:14:0:0:5,9:147,240:0.00,24.25:0.00,24.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.8,128.6:0,0:0,0:63,111:87,39:30,18:-,NM_000092.4(COL4A4) c.2545+140T>C:-,0.62:-,NOT_FOUND 2 227922104 rs7567789 T C 75 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2545+51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:40:0:0:24,19:761,612:74.70,0.00:62.27,0.00:12.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.8,4.6:0,0:0,0:41,27:103,124:24,13:NM_000092.4(COL4A4) c.2545+51A>G,-:0.62,-:0.657633,- 2 227922109 rs7567796 T A 74 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2545+46A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:47:44:0:0:24,23:769,746:74.20,0.00:59.82,0.00:14.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.9,6.9:0,0:0,0:39,22:103,122:20,14:NM_000092.4(COL4A4) c.2545+46A>T,-:0.59,-:0.624452,- 2 227922317 . C . . NT END=227924120;NT GT ./. 2 227922454 rs2141829 G A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2384-138C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:6,8:195,220:18.23,0.00:0.00,0.00:18.23,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:64.5,37.6:0,0:0,0:101,104:49,46:46,11:NM_000092.4(COL4A4) c.2384-138C>T,-:0.64,-:NOT_FOUND,- 2 227922470 rs2141828 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2384-154A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,C,T:12:0:0:0:1,4,7:8,120,215:0.09,10.77,0.00:0.00,0.00,0.00:0.09,10.77,0.00:0.00,0.80,0.00:0.00,0.00,0.00:0.00,0.80,0.00:60,60,60:142.0,75.8,21.1:0,0,0:0,0,0:100,85,117:51,65,34:0,31,9:NM_000092.4(COL4A4) c.2384-154A>G,-:0.3,-:NOT_FOUND,- 2 227922546 rs2177597 C T 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=COL4A4/NM_000092.4/1;CC=c.2384-230G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:0:0:0:1,3:35,76:0.00,8.00:0.00,0.00:0.00,8.00:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,81.0:0,0:0,0:90,115:61,36:0,29:-,NM_000092.4(COL4A4) c.2384-230G>A:-,0.62:-,NOT_FOUND 2 227923952 rs6436649 A G 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2383+169T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:19:0:0:10,9:297,238:0.00,22.37:0.00,22.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:19.7,54.7:0,0:0,0:24,60:123,90:14,27:-,NM_000092.4(COL4A4) c.2383+169T>C:-,0.64:-,NOT_FOUND 2 227924340 . C . . NT END=227924851;NT GT ./. 2 227924817 rs71422223 G GAAAAA 17 idl,nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=235;NP=265;NP=3;NP=9;PC=0.003;Gene=COL4A4/NM_000092.4/1;CC=c.2164+34_2164+35insTTTTT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:G,GAAAAA,D:21:29:15:3:12,6,3:396,492,94:0.00,17.41,7.29:0.00,17.50,7.33:0.00,-0.10,-0.05:0.00,0.90,0.00:0.00,0.99,0.00:0.00,0.47,0.00:60,60,70:29.4,174.8,27.3:0,9,0:0,0,0:85,46,7:60,95,143:44,16,7:-,NM_000092.4(COL4A4) c.2164+34_2164+35insTTTTT:-,NOT_FOUND:-,NOT_FOUND 2 227924960 . C . . NT END=227927245;NT GT ./. 2 227925097 rs6436650 C T 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2057-138G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:0:0:0:10,11:271,359:0.00,34.88:0.00,0.00:0.00,34.88:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.7,38.3:0,0:0,0:64,98:85,53:38,42:-,NM_000092.4(COL4A4) c.2057-138G>A:-,0.64:-,NOT_FOUND 2 227926998 rs12612535 T C 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.2056+248A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:67,67:6.45,0.00:6.45,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:47.5,0.0:0,0:0,0:16,46:133,104:7,21:NM_000092.4(COL4A4) c.2056+248A>G,-:0.62,-:NOT_FOUND,- 2 227927189 rs398081120 GT G 16 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=721;PC=0.011;Gene=COL4A4/NM_000092.4/1;CC=c.2056+56delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:GT,G:9:10:0:6:4,5:132,199:0.00,16.28:0.00,11.06:0.00,5.21:0.00,0.95:0.00,0.95:0.00,0.51:60,60:11.2,2.4:0,1:0,0:113,57:37,94:30,30:-,NM_000092.4(COL4A4) c.2056+56delA:-,NOT_FOUND:-,NOT_FOUND 2 227927315 . C . . NT END=227942609;NT GT ./. 2 227927536 rs3765192 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.1988-222G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:5:0:0:0:1,4:31,135:0.00,14.32:0.00,0.00:0.00,14.32:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,38.5:0,0:0,0:131,99:19,51:0,29:-,NM_000092.4(COL4A4) c.1988-222G>A:-,0.6:-,NOT_FOUND 2 227942794 . C . . NT END=227945158;NT GT ./. 2 227942951 rs7588113 T C 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.1804-158A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:0:0:0:11,9:357,287:34.96,0.00:0.00,0.00:34.96,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.8,5.7:0,0:0,0:129,123:22,28:10,15:NM_000092.4(COL4A4) c.1804-158A>G,-:0.62,-:NOT_FOUND,- 2 227945266 . C . . NT END=227946830;NT GT ./. 2 227946904 . C . . NT END=227953368;NT GT ./. 2 227947053 rs10187611 C G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.1624-150G>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,C,G:15:0:0:0:1,6,8:27,196,237:1.83,0.00,23.30:0.00,0.00,0.00:1.83,0.00,23.30:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:76.0,5.2,45.4:0,0,0:0,0,0:143,67,61:7,82,88:0,34,25:-,NM_000092.4(COL4A4) c.1624-150G>C:-,0.23:-,NOT_FOUND 2 227953533 . C . . NT END=227954583;NT GT ./. 2 227954599 rs2229814 G A 57 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.534;Gene=COL4A4/NM_000092.4/1;CC=c.1444C>T;ProtCh=p.P482S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:51:0:0:20,44:650,1270:57.30,0.00:39.56,0.00:17.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,19.0:1,0:0,0:61,57:90,85:30,34:NM_000092.4(COL4A4) c.1444C>T (p.Pro482Ser),-:0.52,-:0.509039,- 2 227954674 . C . . NT END=227958840;NT GT ./. 2 227959006 . C . . NT END=227963409;NT GT ./. 2 227963515 . C . . NT END=227964335;NT GT ./. 2 227964406 . C . . NT END=227966219;NT GT ./. 2 227966148 rs16823202 C T 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.1029+72G>A;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:17:0:0:8,10:256,298:0.00,29.16:0.00,22.06:0.00,7.09:0.00,1.00:0.00,1.00:0.00,0.92:60,60:3.0,59.9:0,0:0,0:48,34:97,116:21,17:-,NM_000092.4(COL4A4) c.1029+72G>A:-,0.59:-,0.656236 2 227966274 . C . . NT END=227966580;NT GT ./. 2 227966298 rs59443812 T TA 46 rn VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1269;NP=2;PC=0.845;Gene=COL4A4/NM_000092.4/1;CC=c.976-26dupT;VC=Intron;DM=COL4A4/Collagen;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TA,D:43:27:17:1:1,25,16,1:12,784,534,24:0.05,0.00,46.29,1.01:0.20,0.00,21.60,-0.10:-0.15,0.00,24.69,1.11:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:50.0,17.0,20.1,11.0:0,0,1,0:0,0,0,0:127,84,98,62:12,44,51,89:0,39,21,0:-,NM_000092.4(COL4A4) c.976-26_976-25insT:-,NOT_FOUND:-,NOT_FOUND 2 227966626 . C . . NT END=227967504;NT GT ./. 2 227967330 rs1574391 C G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.930+175G>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,G:7:7:0:0:2,5:68,151:0.00,15.64:0.00,15.64:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:17.0,59.2:0,0:0,0:14,89:136,62:1,38:-,NM_000092.4(COL4A4) c.930+175G>C:-,0.63:-,NOT_FOUND 2 227967565 . C . . NT END=227967859;NT GT ./. 2 227967601 rs150877371 ACAATATTTCAGCAATAGGGAAAG A 10 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1946;PC=0.133;Gene=COL4A4/NM_000092.4/1;CC=c.871-60_871-38delCTTTCCCTATTGCTGAAATATTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:ACAATATTTCAGCAATAGGGAAAG,A:22:14:0:5:17,5:551,126:0.00,9.89:0.00,3.98:0.00,5.91:0.00,0.84:0.00,0.94:0.00,0.95:60,60:0.8,0.0:0,0:0,0:113,58:23,92:28,24:-,NM_000092.4(COL4A4) c.871-60_871-38delCTTTCCCTATTGCTGAAATATTG:-,0.63:-,0.560269 2 227967830 rs573969560 GA G 51 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1280;Gene=COL4A4/NM_000092.4/1;CC=c.870+29delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:43:38:4:19:1,21,4,17:8,718,113,595:-0.08,0.00,8.18,51.19:-0.13,0.00,5.97,38.79:0.05,0.00,2.20,12.40:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:118.0,6.2,20.2,13.4:0,0,0,2:0,0,0,0:95,45,51,58:40,79,100,92:0,29,27,37:-,NM_000092.4(COL4A4) c.870+29delT:-,NOT_FOUND:-,NOT_FOUND 2 227967914 . C . . NT END=227968687;NT GT ./. 2 227968553 rs7602059 A C 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.816+135T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:13:13:0:0:7,6:209,211:0.00,20.07:0.00,20.07:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:8.3,38.7:0,0:0,0:15,70:136,80:12,25:-,NM_000092.4(COL4A4) c.816+135T>G:-,0.63:-,NOT_FOUND 2 227968769 . C . . NT END=227973296;NT GT ./. 2 227973095 rs7600536 A T 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.735+202T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,T:12:12:0:0:3,9:77,275:0.00,28.82:0.00,28.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:41.0,40.9:0,0:0,0:83,39:67,112:14,28:-,NM_000092.4(COL4A4) c.735+202T>A:-,0.71:-,NOT_FOUND 2 227973339 . C . . NT END=227973548;NT GT ./. 2 227973410 rs55741079 C A 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.694-72G>T;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:47:30:0:0:24,23:764,783:73.70,0.00:37.02,0.00:36.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,6.8:0,0:0,0:84,104:65,47:44,31:NM_000092.4(COL4A4) c.694-72G>T,-:0.38,-:NOT_FOUND,- 2 227973585 . C . . NT END=227973939;NT GT ./. 2 227973623 rs12475686 A G 52 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=0.005;Gene=COL4A4/NM_000092.4/1;CC=c.658-39T>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:20:0:0:20,16:653,548:0.00,51.69:0.00,13.62:0.00,38.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,40.6:0,0:0,0:85,118:51,30:32,25:-,NM_000092.4(COL4A4) c.658-39T>C:-,0.61:-,0.622897 2 227974003 . C . . NT END=227976393;NT GT ./. 2 227974113 rs6436654 A G 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.595-111T>C;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:3:0:0:14,9:423,300:0.00,27.62:0.00,3.85:0.00,23.77:0.00,1.00:0.00,0.79:0.00,1.00:60,60:3.2,40.2:0,0:0,0:61,122:90,29:14,20:-,NM_000092.4(COL4A4) c.595-111T>C:-,0.69:-,NOT_FOUND 2 227976430 . C . . NT END=227979343;NT GT ./. 2 227979413 . C . . NT END=227983360;NT GT ./. 2 227979533 rs12465531 A C 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=COL4A4/NM_000092.4/1;CC=c.490-121T>G;VC=Intron;DM=COL4A4/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:0:0:0:9,6:298,207:0.00,19.18:0.00,0.00:0.00,19.18:0.00,0.96:0.00,0.00:0.00,0.96:60,60:7.6,40.3:0,0:0,0:90,122:61,28:19,17:-,NM_000092.4(COL4A4) c.490-121T>G:-,0.61:-,NOT_FOUND 2 227983478 . C . . NT END=227984610;NT GT ./. 2 227984656 . C . . NT END=227985729;NT GT ./. 2 227985865 . C . . NT END=228004876;NT GT ./. 2 228004955 . C . . NT END=228009231;NT GT ./. 2 228009275 . C . . NT END=228012128;NT GT ./. 2 228012200 . C . . NT END=228029442;NT GT ./. 2 228029531 . T . . NT END=228102683;NT GT ./. 2 228102723 rs13424243 G C 27 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.255;Gene=COL4A3/NM_000091.4/1;CC=c.127G>C;ProtCh=p.G43R;VC=Missense;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:24:13:0:0:1,10,13:23,287,410:1.17,26.62,0.00:-0.11,9.78,0.00:1.28,16.83,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:49.0,39.0,34.1:0,0,0:0,0,0:29,108,90:121,33,57:0,29,14:NM_000091.4(COL4A3) c.127G>C (p.Gly43Arg),-:0.25,-:0.351087,- 2 228102742 . T . . NT END=228104858;NT GT ./. 2 228102752 rs1882435 C A 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.144+12C>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,C:22:12:0:0:15,7:466,203:47.78,0.00:18.84,0.00:28.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,30.6:0,0:0,0:122,99:24,28:14,25:NM_000091.4(COL4A3) c.144+12C>A,-:0.35,-:0.284798,- 2 228104760 rs7579991 C T 97 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.145-99C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:27:0:0:27:838:96.64:96.64:0.00:1.00:1.00:0.00:60:33.0:0:0:33:118:15:NM_000091.4(COL4A3) c.145-99C>T,NM_000091.4(COL4A3) c.145-99C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 2 228104950 . T . . NT END=228109035;NT GT ./. 2 228109082 . T . . NT END=228109666;NT GT ./. 2 228109626 rs113428834 T TG 63 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=3231;Gene=COL4A3/NM_000091.4/1;CC=c.280-41_280-40insG;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:T,TG:22:18:19:0:3,19:64,576:0.00,62.94:0.00,39.74:0.00,23.21:0.00,1.00:0.00,1.00:0.00,1.00:60,70:68.7,4.9:1,0:0,0:86,29:65,122:38,22:-,NM_000091.4(COL4A3) c.280-41_280-40insG:-,0.79:-,0.766122 2 228109713 . T . . NT END=228110669;NT GT ./. 2 228109784 rs6750210 C T 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.324+73C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:3:0:0:14:474:54.08:5.82:48.26:1.00:1.00:1.00:60:33.9:0:0:85:65:29:NM_000091.4(COL4A3) c.324+73C>T,NM_000091.4(COL4A3) c.324+73C>T:0.77,0.77:0.738043,0.738043 2 228110734 . T . . NT END=228111400;NT GT ./. 2 228111435 rs10178458 T C 160 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.373;Gene=COL4A3/NM_000091.4/1;CC=c.422T>C;ProtCh=p.L141P;VC=Missense;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C,T:45:35:0:0:44,1:1411,34:160.00,0.00:88.99,0.00:71.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,0.0:0,0:0,0:87,135:53,16:28,0:NM_000091.4(COL4A3) c.422T>C (p.Leu141Pro),NM_000091.4(COL4A3) c.422T>C (p.Leu141Pro):0.81,0.81:0.770425,0.770425 2 228111456 . T . . NT END=228112273;NT GT ./. 2 228111600 rs10168566 G T 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.282;Gene=COL4A3/NM_000091.4/1;CC=c.441+146G>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:382:43.45:0.00:43.45:1.00:0.00:1.00:60:90.6:0:0:76:75:24:NM_000091.4(COL4A3) c.441+146G>T,NM_000091.4(COL4A3) c.441+146G>T:0.79,0.79:0.744855,0.744855 2 228111604 rs10168567 G T 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.405;Gene=COL4A3/NM_000091.4/1;CC=c.441+150G>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:328:37.97:0.00:37.97:1.00:0.00:1.00:60:90.6:0:0:80:71:24:NM_000091.4(COL4A3) c.441+150G>T,NM_000091.4(COL4A3) c.441+150G>T:0.79,0.79:0.74503,0.74503 2 228111651 rs10192026 A G 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.441+197A>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:280:31.82:0.00:31.82:1.00:0.00:1.00:60:94.0:0:0:111:40:12:NM_000091.4(COL4A3) c.441+197A>G,NM_000091.4(COL4A3) c.441+197A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 228112186 rs4321358 A G 136 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.442-88A>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:32:0:0:36:1194:136.50:97.74:38.76:1.00:1.00:1.00:60:39.1:0:0:42:103:21:NM_000091.4(COL4A3) c.442-88A>G,NM_000091.4(COL4A3) c.442-88A>G:0.99,0.99:0.975033,0.975033 2 228112302 . T . . NT END=228113158;NT GT ./. 2 228113175 rs6436669 A G 126 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.985;Gene=COL4A3/NM_000091.4/1;CC=c.485A>G;ProtCh=p.E162G;VC=Missense;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:32:0:0:34:1103:126.45:80.98:45.47:1.00:1.00:1.00:60:42.8:0:0:58:75:29:NM_000091.4(COL4A3) c.485A>G (p.Glu162Gly),NM_000091.4(COL4A3) c.485A>G (p.Glu162Gly):0.81,0.81:0.770131,0.770131 2 228113238 . T . . NT END=228115855;NT GT ./. 2 228115920 . T . . NT END=228116051;NT GT ./. 2 228116089 . T . . NT END=228118011;NT GT ./. 2 228116318 rs4675160 C G 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.645+231C>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:251:28.91:0.00:28.91:1.00:0.00:1.00:60:52.2:0:0:95:55:26:NM_000091.4(COL4A3) c.645+231C>G,NM_000091.4(COL4A3) c.645+231C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 228118055 . T . . NT END=228118276;NT GT ./. 2 228118356 . T . . NT END=228118827;NT GT ./. 2 228118403 rs12621551 T G 113 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.765+49T>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:10:0:0:32:979:113.07:23.09:89.98:1.00:1.00:1.00:60:35.2:0:0:115:34:27:NM_000091.4(COL4A3) c.765+49T>G,NM_000091.4(COL4A3) c.765+49T>G:0.81,0.81:0.772528,0.772528 2 228118596 rs12694724 A G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.293;Gene=COL4A3/NM_000091.4/1;CC=c.766-232A>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,G:14:9:0:0:9,5:273,144:0.00,12.82:0.00,8.75:0.00,4.07:0.00,0.90:0.00,0.97:0.00,0.88:60,60:20.0,57.0:0,0:0,0:42,82:108,68:18,37:-,NM_000091.4(COL4A3) c.766-232A>G:-,0.51:-,NOT_FOUND 2 228118892 . T . . NT END=228119371;NT GT ./. 2 228118949 rs7559693 C G 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.828+59C>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:10:0:0:14,13:397,429:0.00,41.00:0.00,12.15:0.00,28.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,35.4:0,0:0,0:108,123:42,26:28,7:-,NM_000091.4(COL4A3) c.828+59C>G:-,0.32:-,0.316251 2 228118975 rs375252373 G GT 10 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=55;NP=66;Gene=COL4A3/NM_000091.4/1;CC=c.828+96dupT;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:G,GT,D:17:1:7:1:12,4,1:333,219,29:0.00,10.26,1.81:0.00,-0.10,-0.02:0.00,10.36,1.84:0.00,0.71,0.00:0.00,0.47,0.00:0.00,0.96,0.00:60,60,60:21.3,45.5,49.0:0,3,0:0,0,0:108,67,52:42,83,99:32,26,0:-,NM_000091.4(COL4A3) c.828+85_828+86insT:-,NOT_FOUND:-,NOT_FOUND 2 228119433 . T . . NT END=228120741;NT GT ./. 2 228120788 . T . . NT END=228121058;NT GT ./. 2 228121101 rs55703767 G T 56 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.695;Gene=COL4A3/NM_000091.4/1;CC=c.976G>T;ProtCh=p.D326Y;VC=Missense;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:38:19:0:0:20,18:697,590:0.00,56.17:0.00,24.56:0.00,31.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:39.0,37.9:0,0:0,0:45,103:98,38:21,28:-,NM_000091.4(COL4A3) c.976G>T (p.Asp326Tyr):-,0.14:-,0.16577 2 228121114 . T . . NT END=228122318;NT GT ./. 2 228121147 rs10933172 T G 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.048;Gene=COL4A3/NM_000091.4/1;CC=c.987+35T>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:12:0:0:18,12:615,409:61.32,0.00:16.00,0.00:45.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,28.9:0,0:0,0:79,79:71,71:20,21:NM_000091.4(COL4A3) c.987+35T>G,-:0.09,-:0.102495,- 2 228122362 . T . . NT END=228124508;NT GT ./. 2 228124595 . T . . NT END=228125797;NT GT ./. 2 228125835 . T . . NT END=228128495;NT GT ./. 2 228128540 rs10205042 C T 340 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.1195C>T;ProtCh=p.L399=;VC=Silent;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:91:68:0:0:91:2964:339.65:209.98:129.66:1.00:1.00:1.00:60:40.8:0:0:62:88:27:NM_000091.4(COL4A3) c.1195C>T (p.(=)),NM_000091.4(COL4A3) c.1195C>T (p.(=)):0.76,0.76:0.718037,0.718037 2 228128662 . T . . NT END=228131132;NT GT ./. 2 228131227 . T . . NT END=228131708;NT GT ./. 2 228131806 . T . . NT END=228134625;NT GT ./. 2 228134698 . T . . NT END=228135485;NT GT ./. 2 228135093 rs78156562 C A 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=11;Gene=COL4A3/NM_000091.4/1;CC=c.1576-393C>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,C:4:2:0:0:2,2:66,67:6.35,0.00:-0.60,0.00:6.95,0.00:0.51,0.00:0.79,0.00:0.79,0.00:60,60:33.0,36.0:0,0:0,0:82,12:68,139:17,2:NM_000091.4(COL4A3) c.1576-393C>A,-:0.01,-:NOT_FOUND,- 2 228135426 rs73993878 G A 193 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.1576-60G>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:48:0:0:52:1683:193.06:165.24:27.83:1.00:1.00:1.00:60:40.7:0:0:46:103:27:NM_000091.4(COL4A3) c.1576-60G>A,NM_000091.4(COL4A3) c.1576-60G>A:0.12,0.12:NOT_FOUND,NOT_FOUND 2 228135670 . T . . NT END=228137664;NT GT ./. 2 228137835 . T . . NT END=228141100;NT GT ./. 2 228141194 . G . . NT END=228142164;NT GT ./. 2 228142038 rs59353048 GAA G 13 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;PC=0.001;Gene=COL4A3/NM_000091.4/1;CC=c.2021-110_2021-109delAA;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GAA,G:5:7:0:6:1,4:33,196:0.00,13.47:0.00,13.47:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:25.0,31.5:0,2:0,0:131,61:19,90:0,24:-,NM_000091.4(COL4A3) c.2021-126_2021-125delAA:-,NOT_FOUND:-,NOT_FOUND 2 228142271 . T . . NT END=228144508;NT GT ./. 2 228144608 . T . . NT END=228145155;NT GT ./. 2 228144706 rs6729152 G T 75 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.001;Gene=COL4A3/NM_000091.4/1;CC=c.2223+100G>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:3:0:0:21:650:74.98:6.51:68.47:1.00:1.00:1.00:60:39.4:0:0:100:51:31:NM_000091.4(COL4A3) c.2223+100G>T,NM_000091.4(COL4A3) c.2223+100G>T:0.92,0.92:NOT_FOUND,NOT_FOUND 2 228145308 . T . . NT END=228145608;NT GT ./. 2 228145543 rs6436671 C T 132 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.2375-66C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T:38:31:0:0:38:1142:132.13:88.75:43.38:1.00:1.00:1.00:60:40.4:0:0:60:91:43:NM_000091.4(COL4A3) c.2375-66C>T,NM_000091.4(COL4A3) c.2375-66C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 2 228145724 . T . . NT END=228147080;NT GT ./. 2 228146991 rs111486503 AATAT A 58 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=14;PC=0.047;Gene=COL4A3/NM_000091.4/1;CC=c.2489-67_2489-64delATAT;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:AATAT,A:21:25:0:24:3,18:97,732:0.00,58.18:0.00,43.96:0.00,14.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.0,26.9:0,6:0,0:138,56:13,92:7,33:-,NM_000091.4(COL4A3) c.2489-89_2489-86delATAT:-,NOT_FOUND:-,NOT_FOUND 2 228147250 . T . . NT END=228148482;NT GT ./. 2 228148574 . T . . NT END=228148926;NT GT ./. 2 228149063 . T . . NT END=228153865;NT GT ./. 2 228149107 rs6436672 A G 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.2881+46A>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:9:0:0:35:1084:124.94:21.22:103.72:1.00:1.00:1.00:60:42.8:0:0:109:34:29:NM_000091.4(COL4A3) c.2881+46A>G,NM_000091.4(COL4A3) c.2881+46A>G:0.83,0.83:0.878707,0.878707 2 228153667 rs200614219 GT G 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;Gene=COL4A3/NM_000091.4/1;CC=c.2882-182delT;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:GT,G:4:5:0:4:1,3:27,120:0.00,9.47:0.00,9.47:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:173.0,95.7:0,1:0,0:1,43:134,108:0,14:-,NM_000091.4(COL4A3) c.2882-198delT:-,NOT_FOUND:-,NOT_FOUND 2 228153966 . T . . NT END=228154714;NT GT ./. 2 228154095 rs7593281 C T 76 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.2980+131C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:0:0:0:22:652:75.62:0.00:75.62:1.00:0.00:1.00:60:65.4:0:0:107:44:19:NM_000091.4(COL4A3) c.2980+131C>T,NM_000091.4(COL4A3) c.2980+131C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 228154137 rs7566682 A G 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.2980+173A>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:0:0:0:12:366:42.29:0.00:42.29:1.00:0.00:1.00:60:82.9:0:0:127:23:18:NM_000091.4(COL4A3) c.2980+173A>G,NM_000091.4(COL4A3) c.2980+173A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 228154156 rs7593299 C A,T 20 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:9:A,T:7:0:0:0:6,1:176,21:20.06,1.74:0.00,0.00:20.06,1.74:1.00,0.00:0.00,0.00:1.00,0.00:60,60:85.7,143.0:0,0:0,0:101,143:49,8:21,0:NM_000091.4(COL4A3) c.2980+192C>A,NM_000091.4(COL4A3) c.2980+192C>T:0.73,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 228154806 . T . . NT END=228155462;NT GT ./. 2 228155604 . T . . NT END=228157887;NT GT ./. 2 228157661 rs55920965 G A 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.010;Gene=COL4A3/NM_000091.4/1;CC=c.3211-246G>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:237:27.04:27.04:0.00:1.00:1.00:0.00:60:44.3:0:0:23:127:12:NM_000091.4(COL4A3) c.3211-246G>A,NM_000091.4(COL4A3) c.3211-246G>A:0.11,0.11:NOT_FOUND,NOT_FOUND 2 228158035 . T . . NT END=228159205;NT GT ./. 2 228159063 rs6436675 T C 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=3279;Gene=COL4A3/NM_000091.4/1;CC=c.3338-143T>C;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:518:59.43:59.43:0.00:1.00:1.00:0.00:60:44.8:0:0:62:88:34:NM_000091.4(COL4A3) c.3338-143T>C,NM_000091.4(COL4A3) c.3338-143T>C:1,1:NOT_FOUND,NOT_FOUND 2 228159288 . T . . NT END=228159679;NT GT ./. 2 228159641 rs4675163 C T 163 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.3419-39C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:T:44:38:0:0:44:1417:162.60:127.13:35.47:1.00:1.00:1.00:60:59.2:0:0:33:115:20:NM_000091.4(COL4A3) c.3419-39C>T,NM_000091.4(COL4A3) c.3419-39C>T:0.11,0.11:0.123445,0.123445 2 228159660 rs535370229 GTT G 95 idl,rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.008;Gene=COL4A3/NM_000091.4/1;CC=c.3419-5_3419-4delTT;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:GTT,G:36:45:0:46:7,29:225,1407:0.00,94.79:0.00,67.87:0.00,26.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.4,72.5:0,16:0,0:70,39:81,108:29,19:-,NM_000091.4(COL4A3) c.3419-19_3419-18delTT:-,NOT_FOUND:-,NOT_FOUND 2 228159780 . T . . NT END=228159984;NT GT ./. 2 228160034 . T . . NT END=228161202;NT GT ./. 2 228161243 . G . . NT END=228162389;NT GT ./. 2 228162577 . T . . NT END=228163397;NT GT ./. 2 228162770 rs74266862 A G 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.3751+195A>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:0:0:0:16:532:60.83:0.00:60.83:1.00:0.00:1.00:60:49.6:0:0:104:46:22:NM_000091.4(COL4A3) c.3751+195A>G,NM_000091.4(COL4A3) c.3751+195A>G:0.12,0.12:NOT_FOUND,NOT_FOUND 2 228162838 rs7606813 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;Gene=COL4A3/NM_000091.4/1;CC=c.3751+263C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:62.5:0:0:129:21:11:NM_000091.4(COL4A3) c.3751+263C>T,NM_000091.4(COL4A3) c.3751+263C>T:0.74,0.74:NOT_FOUND,NOT_FOUND 2 228163051 rs12476749 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.3752-347G>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:106:12.45:12.45:0.00:1.00:1.00:0.00:60:59.8:0:0:51:91:24:NM_000091.4(COL4A3) c.3752-347G>A,NM_000091.4(COL4A3) c.3752-347G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 2 228163530 . T . . NT END=228167753;NT GT ./. 2 228167544 rs4271760 G A 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.3883-210G>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:230:26.78:26.78:0.00:1.00:1.00:0.00:60:76.6:0:0:16:134:13:NM_000091.4(COL4A3) c.3883-210G>A,NM_000091.4(COL4A3) c.3883-210G>A:0.78,0.78:NOT_FOUND,NOT_FOUND 2 228167560 rs10451555 G A 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.3883-194G>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:283:32.57:32.57:0.00:1.00:1.00:0.00:60:76.0:0:0:24:126:11:NM_000091.4(COL4A3) c.3883-194G>A,NM_000091.4(COL4A3) c.3883-194G>A:0.13,0.13:NOT_FOUND,NOT_FOUND 2 228167828 . T . . NT END=228168574;NT GT ./. 2 228168648 . T . . NT END=228168734;NT GT ./. 2 228168862 . T . . NT END=228169700;NT GT ./. 2 228169098 rs139517145 TG T 37 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=5;Gene=COL4A3/NM_000091.4/1;CC=c.4153+239delG;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/Collagen;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:11:11:319:37.13:0.00:37.13:1.00:0.00:1.00:70:42.5:0:0:111:39:18:NM_000091.4(COL4A3) c.4153+239delG,NM_000091.4(COL4A3) c.4153+239delG:0.11,0.11:NOT_FOUND,NOT_FOUND 2 228169801 . T . . NT END=228172425;NT GT ./. 2 228172637 . T . . NT END=228173614;NT GT ./. 2 228173794 . T . . NT END=228173919;NT GT ./. 2 228174036 . T . . NT END=228175491;NT GT ./. 2 228174227 rs79118782 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=COL4A3/NM_000091.4/1;CC=c.4755+193G>A;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:43.2:0:0:97:54:49:NM_000091.4(COL4A3) c.4755+193G>A,NM_000091.4(COL4A3) c.4755+193G>A:0.11,0.11:NOT_FOUND,NOT_FOUND 2 228175311 rs10432551 C T 63 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.116;Gene=COL4A3/NM_000091.4/1;CC=c.4756-181C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:18:0:0:18:546:63.10:63.10:0.00:1.00:1.00:0.00:60:43.3:0:0:61:89:39:NM_000091.4(COL4A3) c.4756-181C>T,NM_000091.4(COL4A3) c.4756-181C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 228175666 . T . . NT END=228176501;NT GT ./. 2 228175862 rs55761800 C T 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.003;Gene=COL4A3/NM_000091.4/1;CC=c.4928+198C>T;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:352:40.44:0.00:40.44:1.00:0.00:1.00:60:55.2:0:0:70:69:51:NM_000091.4(COL4A3) c.4928+198C>T,NM_000091.4(COL4A3) c.4928+198C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 2 228176357 rs4455148 T G 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1219;Gene=COL4A3/NM_000091.4/1;CC=c.4929-145T>G;VC=Intron;Gene=LOC654841/NR_102371.1/0;VC=NonCoding;DM=COL4A3/C4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:16:0:0:17:561:64.21:60.33:3.88:1.00:1.00:1.00:60:53.8:0:0:73:77:44:NM_000091.4(COL4A3) c.4929-145T>G,NM_000091.4(COL4A3) c.4929-145T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 228176661 . G . . NT END=228194461;NT GT ./. 2 228176901 rs2070735 A C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.252;Gene=COL4A3/NM_000091.4/1;CC=c.*315A>C;VC=3UTR;Gene=LOC654841/NR_102371.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:280:32.29:0.00:32.29:1.00:0.00:1.00:60:32.6:0:0:59:91:23:NM_000091.4(COL4A3) c.*315A>C,NM_000091.4(COL4A3) c.*315A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 228194500 . G . . NT END=228195341;NT GT ./. 2 228194570 rs6706656 G A 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=MFF/NM_001277061.1/1;CC=c.38+71G>A;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.-40-772G>A;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.-40-772G>A;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.-40-772G>A;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.-40-772G>A;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.-40-772G>A;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.38+71G>A;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.-36+71G>A;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.-40-772G>A;VC=Intron;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:6:0:0:16:488:56.41:18.35:38.05:1.00:1.00:1.00:60:34.8:0:0:94:57:26:NM_020194.4(MFF) c.38+71G>A,NM_020194.4(MFF) c.38+71G>A:0.85,0.85:0.878449,0.878449 2 228194639 rs36118365 T TA 16 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=46;NP=591;PC=0.406;Gene=MFF/NM_001277061.1/1;CC=c.38+151dupA;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.-40-692dupA;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.-40-692dupA;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.-40-692dupA;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.-40-692dupA;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.-40-692dupA;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.38+151dupA;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.-36+151dupA;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.-40-692dupA;VC=Intron;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:T,TA:7:0:6:0:2,5:54,182:0.00,16.41:0.00,0.00:0.00,16.41:0.00,0.97:0.00,0.00:0.00,0.97:60,60:42.0,34.6:0,1:0,0:143,83:7,66:2,16:-,NM_020194.4(MFF) c.38+140_38+141insA:-,NOT_FOUND:-,NOT_FOUND 2 228195563 . G . . NT END=228197134;NT GT ./. 2 228195763 rs77017294 C T 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=MFF/NM_001277061.1/1;CC=c.259+201C>T;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.181+201C>T;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.181+201C>T;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.181+201C>T;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.181+201C>T;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.181+201C>T;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.259+201C>T;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.31+201C>T;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.181+201C>T;VC=Intron;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:289:33.19:0.00:33.19:1.00:0.00:1.00:60:43.2:0:0:90:61:44:NM_020194.4(MFF) c.259+201C>T,NM_020194.4(MFF) c.259+201C>T:0.13,0.13:NOT_FOUND,NOT_FOUND 2 228197305 . G . . NT END=228205007;NT GT ./. 2 228197368 rs4500938 A G 100 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=MFF/NM_001277061.1/1;CC=c.429+64A>G;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.351+64A>G;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.351+64A>G;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.351+64A>G;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.351+64A>G;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.351+64A>G;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.429+64A>G;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.201+64A>G;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.351+64A>G;VC=Intron;DM=MFF/Miff;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:5:0:0:28:866:99.91:11.80:88.11:1.00:1.00:1.00:60:40.3:0:0:113:35:23:NM_020194.4(MFF) c.429+64A>G,NM_020194.4(MFF) c.429+64A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 228197488 rs4444514 A G 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=MFF/NM_001277061.1/1;CC=c.429+184A>G;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.351+184A>G;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.351+184A>G;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.351+184A>G;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.351+184A>G;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.351+184A>G;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.429+184A>G;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.201+184A>G;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.351+184A>G;VC=Intron;DM=MFF/Miff;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:295:33.79:0.00:33.79:1.00:0.00:1.00:60:46.9:0:0:69:82:20:NM_020194.4(MFF) c.429+184A>G,NM_020194.4(MFF) c.429+184A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 228204807 rs149793839 G GGT 34 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=37;Gene=MFF/NM_001277061.1/1;CC=c.430-184_430-183dupGT;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.352-184_352-183dupGT;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.352-184_352-183dupGT;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.352-184_352-183dupGT;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.352-184_352-183dupGT;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.352-184_352-183dupGT;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.430-184_430-183dupGT;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.202-184_202-183dupGT;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.352-184_352-183dupGT;VC=Intron;DM=MFF/Miff;DM=MFF/Miff;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:G,GGT:11:10:10:0:1,10:33,308:0.00,34.11:0.00,30.27:0.00,3.84:0.00,1.00:0.00,1.00:0.00,0.94:60,60:0.0,16.2:0,0:0,0:51,55:99,89:0,25:-,NM_020194.4(MFF) c.430-201_430-200insGT:-,NOT_FOUND:-,NOT_FOUND 2 228204929 rs4420693 C T 91 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=MFF/NM_001277061.1/1;CC=c.430-79C>T;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.352-79C>T;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.352-79C>T;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.352-79C>T;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.352-79C>T;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.352-79C>T;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.430-79C>T;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.202-79C>T;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.352-79C>T;VC=Intron;DM=MFF/Miff;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:23:0:0:24:791:90.55:78.81:11.73:1.00:1.00:1.00:60:63.6:0:0:57:93:33:NM_020194.4(MFF) c.430-79C>T,NM_020194.4(MFF) c.430-79C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 2 228204982 rs4442987 C T 129 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=MFF/NM_001277061.1/1;CC=c.430-26C>T;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.352-26C>T;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.352-26C>T;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.352-26C>T;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.352-26C>T;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.352-26C>T;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.430-26C>T;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.202-26C>T;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.352-26C>T;VC=Intron;DM=MFF/Miff;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:27:0:0:35:1128:129.43:76.29:53.14:1.00:1.00:1.00:60:50.7:0:0:47:98:29:NM_020194.4(MFF) c.430-26C>T,NM_020194.4(MFF) c.430-26C>T:0.85,0.85:0.862294,0.862294 2 228205097 . G . . NT END=228207460;NT GT ./. 2 228207536 . G . . NT END=228211941;NT GT ./. 2 228207776 rs6740870 C A 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.069;Gene=MFF/NM_001277061.1/1;CC=c.593+241C>A;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.440+2680C>A;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.515+241C>A;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.440+2680C>A;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.440+2680C>A;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.440+2680C>A;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.593+241C>A;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.290+2680C>A;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.440+2680C>A;VC=Intron;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:40.8:0:0:139:11:9:NM_020194.4(MFF) c.593+241C>A,NM_020194.4(MFF) c.593+241C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 228212101 . G . . NT END=228217229;NT GT ./. 2 228216992 rs73997104 G A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MFF/NM_001277061.1/1;CC=c.753-238G>A;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.600-238G>A;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.516-3401G>A;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.441-238G>A;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.441-3401G>A;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.441-3401G>A;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.753-238G>A;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.450-3401G>A;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.483-238G>A;VC=Intron;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:289:33.19:33.19:0.00:1.00:1.00:0.00:60:37.2:0:0:57:94:35:NM_020194.4(MFF) c.753-238G>A,NM_020194.4(MFF) c.753-238G>A:0.15,0.15:NOT_FOUND,NOT_FOUND 2 228217290 . G . . NT END=228220392;NT GT ./. 2 228220288 rs56310237 A G 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=MFF/NM_001277061.1/1;CC=c.813-105A>G;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.660-105A>G;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.516-105A>G;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.501-105A>G;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.441-105A>G;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.441-105A>G;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.813-105A>G;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.450-105A>G;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.543-105A>G;VC=Intron;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:319:36.65:36.65:0.00:1.00:1.00:0.00:60:37.6:0:0:36:114:15:NM_020194.4(MFF) c.813-105A>G,NM_020194.4(MFF) c.813-105A>G:0.28,0.28:NOT_FOUND,NOT_FOUND 2 228220478 . G . . NT END=228221701;NT GT ./. 2 228220703 rs59843055 CAAA C 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=54;Gene=MFF/NM_001277061.1/1;CC=c.897+227_897+229delAAA;VC=Intron;Gene=MFF/NM_001277062.1/0;CC=c.744+227_744+229delAAA;VC=Intron;Gene=MFF/NM_001277063.1/0;CC=c.600+227_600+229delAAA;VC=Intron;Gene=MFF/NM_001277064.1/0;CC=c.585+227_585+229delAAA;VC=Intron;Gene=MFF/NM_001277065.1/0;CC=c.525+227_525+229delAAA;VC=Intron;Gene=MFF/NM_001277066.1/0;CC=c.525+227_525+229delAAA;VC=Intron;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.897+227_897+229delAAA;VC=Intron;Gene=MFF/NM_001277067.1/0;CC=c.534+227_534+229delAAA;VC=Intron;Gene=MFF/NM_001277068.1/0;CC=c.627+227_627+229delAAA;VC=Intron;DM=MFF/Miff;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:125:14.41:0.00:14.41:1.00:0.00:1.00:70:0.0:0:0:109:41:11:NM_020194.4(MFF) c.897+227_897+229delAAA,NM_020194.4(MFF) c.897+227_897+229delAAA:0.15,0.15:NOT_FOUND,NOT_FOUND 2 228221725 rs4844 A G 154 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MFF/NM_001277061.1/1;CC=c.921A>G;ProtCh=p.L307=;VC=Silent;Gene=MFF/NM_001277062.1/0;CC=c.768A>G;ProtCh=p.L256=;VC=Silent;Gene=MFF/NM_001277063.1/0;CC=c.624A>G;ProtCh=p.L208=;VC=Silent;Gene=MFF/NM_001277064.1/0;CC=c.609A>G;ProtCh=p.L203=;VC=Silent;Gene=MFF/NM_001277065.1/0;CC=c.549A>G;ProtCh=p.L183=;VC=Silent;Gene=MFF/NM_001277066.1/0;CC=c.549A>G;ProtCh=p.L183=;VC=Silent;Gene=MFF/NR_102266.1/0;VC=NonCoding;Gene=MFF/NM_020194.5/0;CC=c.921A>G;ProtCh=p.L307=;VC=Silent;Gene=MFF/NM_001277067.1/0;CC=c.558A>G;ProtCh=p.L186=;VC=Silent;Gene=MFF/NM_001277068.1/0;CC=c.651A>G;ProtCh=p.L217=;VC=Silent;DM=MFF/Miff GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:42:32:0:0:42:1340:153.89:91.90:61.99:1.00:1.00:1.00:60:43.3:0:0:64:79:34:NM_020194.4(MFF) c.921A>G (p.(=)),NM_020194.4(MFF) c.921A>G (p.(=)):0.15,0.15:0.171844,0.171844 2 228221834 . A . . NT END=228228439;NT GT ./. 2 228228729 . C . . NT END=228230808;NT GT ./. 2 228230727 rs75274263 G A 104 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TM4SF20/NM_024795.3/1;CC=c.401+82C>T;VC=Intron;DM=TM4SF20/L6_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:26:0:0:28:911:104.45:92.53:11.92:1.00:1.00:1.00:60:39.5:0:0:28:120:17:NM_024795.3(TM4SF20) c.401+82C>T,NM_024795.3(TM4SF20) c.401+82C>T:0.11,0.11:NOT_FOUND,NOT_FOUND 2 228230945 rs76547437 G A 236 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=NA;PC=0.031;Gene=TM4SF20/NM_024795.3/1;CC=c.265C>T;ProtCh=p.L89F;VC=Missense;DM=TM4SF20/L6_membrane GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:150:A,G:65:36:0:0:64,1:2074,35:235.59,0.00:88.86,0.00:146.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,10.0:0,0:0,0:81,5:54,146:39,0:NM_024795.3(TM4SF20) c.265C>T (p.Leu89Phe),NM_024795.3(TM4SF20) c.265C>T (p.Leu89Phe):0.1,0.1:0.112487,0.112487 2 228230961 . C . . NT END=228235630;NT GT ./. 2 228235697 . C . . NT END=228243801;NT GT ./. 2 228243985 . G . . NT END=228337137;NT GT ./. 2 228337305 . G . . NT END=228356262;NT GT ./. 2 228356357 . G . . NT END=228384663;NT GT ./. 2 228356364 rs550845036 GT G 49 idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=184;PC=0.527;Gene=AGFG1/NM_001135187.1/1;CC=c.261+23delT;VC=Intron;Gene=AGFG1/NM_001135188.1/0;CC=c.261+23delT;VC=Intron;Gene=AGFG1/NM_001135189.1/0;CC=c.261+23delT;VC=Intron;Gene=AGFG1/NM_004504.4/0;CC=c.261+23delT;VC=Intron;DM=AGFG1/ArfGap;DM=AGFG1/ArfGap;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,I,G:26:16:1:18:9,1,16:228,31,517:0.00,1.99,48.66:0.00,-0.06,20.63:0.00,2.05,28.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:17.8,20.0,21.5:0,0,2:0,0,0:134,127,80:13,24,67:13,0,34:-,NM_001135187.1(AGFG1) c.261+9delT:-,NOT_FOUND:-,NOT_FOUND 2 228384780 . G . . NT END=228388478;NT GT ./. 2 228388642 . G . . NT END=228389477;NT GT ./. 2 228389632 . G . . NT END=228395806;NT GT ./. 2 228395648 rs12053112 C A 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1448;PC=0.007;Gene=AGFG1/NM_001135187.1/1;CC=c.695-159C>A;VC=Intron;Gene=AGFG1/NM_001135188.1/0;CC=c.695-159C>A;VC=Intron;Gene=AGFG1/NM_001135189.1/0;CC=c.695-2617C>A;VC=Intron;Gene=AGFG1/NM_004504.4/0;CC=c.695-159C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:327:37.47:37.47:0.00:1.00:1.00:0.00:60:42.8:0:0:42:108:29:NM_001135187.1(AGFG1) c.695-159C>A,NM_001135187.1(AGFG1) c.695-159C>A:1,1:NOT_FOUND,NOT_FOUND 2 228395927 . G . . NT END=228396853;NT GT ./. 2 228396926 . G . . NT END=228398264;NT GT ./. 2 228398475 . G . . NT END=228399560;NT GT ./. 2 228399480 rs7588620 T C 166 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=AGFG1/NM_001135187.1/1;CC=c.1097-81T>C;VC=Intron;Gene=AGFG1/NM_001135188.1/0;CC=c.1025-81T>C;VC=Intron;Gene=AGFG1/NM_001135189.1/0;CC=c.905-81T>C;VC=Intron;Gene=AGFG1/NM_004504.4/0;CC=c.1025-81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:44:0:0:46:1442:166.04:144.28:21.75:1.00:1.00:1.00:60:35.3:0:0:53:96:33:NM_001135187.1(AGFG1) c.1097-81T>C,NM_001135187.1(AGFG1) c.1097-81T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 228399742 . G . . NT END=228401340;NT GT ./. 2 228401421 . G . . NT END=228401616;NT GT ./. 2 228401710 . G . . NT END=228416674;NT GT ./. 2 228416498 rs7598597 C T 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=AGFG1/NM_001135187.1/1;CC=c.1451-177C>T;VC=Intron;Gene=AGFG1/NM_001135188.1/0;CC=c.1379-177C>T;VC=Intron;Gene=AGFG1/NM_001135189.1/0;CC=c.1259-177C>T;VC=Intron;Gene=AGFG1/NM_004504.4/0;CC=c.1379-177C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:18:0:0:18:596:68.18:68.18:0.00:1.00:1.00:0.00:60:39.6:0:0:33:117:21:NM_001135187.1(AGFG1) c.1451-177C>T,NM_001135187.1(AGFG1) c.1451-177C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 2 228416712 rs13426457 A G 322 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=NA;PC=0.395;Gene=AGFG1/NM_001135187.1/1;CC=c.1488A>G;ProtCh=p.T496=;VC=Silent;Gene=AGFG1/NM_001135188.1/0;CC=c.1416A>G;ProtCh=p.T472=;VC=Silent;Gene=AGFG1/NM_001135189.1/0;CC=c.1296A>G;ProtCh=p.T432=;VC=Silent;Gene=AGFG1/NM_004504.4/0;CC=c.1416A>G;ProtCh=p.T472=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:94:78:0:0:93,1:2788,11:322.35,0.14:192.65,0.14:129.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,127.0:0,0:0,0:56,102:88,45:31,0:NM_001135187.1(AGFG1) c.1488A>G (p.(=)),NM_001135187.1(AGFG1) c.1488A>G (p.(=)):0.73,0.73:0.757112,0.757112 2 228416834 . G . . NT END=228418419;NT GT ./. 2 228418512 . G . . NT END=228419151;NT GT ./. 2 228418957 rs13382948 A G 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.024;Gene=AGFG1/NM_001135187.1/1;CC=c.1696-195A>G;VC=Intron;Gene=AGFG1/NM_001135188.1/0;CC=c.1624-195A>G;VC=Intron;Gene=AGFG1/NM_001135189.1/0;CC=c.1510-195A>G;VC=Intron;Gene=AGFG1/NM_004504.4/0;CC=c.1630-195A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:5:4:0:0:1,4:32,122:0.00,13.02:0.00,9.44:0.00,3.58:0.00,0.96:0.00,1.00:0.00,0.87:60,60:60.0,35.5:0,0:0,0:35,24:108,125:0,18:-,NM_001135187.1(AGFG1) c.1696-195A>G:-,0.52:-,NOT_FOUND 2 228419212 . C . . NT END=228476109;NT GT ./. 2 228463665 rs74323613 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,T:7:5:0:0:4,3:138,79:0.00,7.25:0.00,2.89:0.00,4.36:0.00,0.69:0.00,0.93:0.00,0.95:60,60:17.0,130.3:0,0:0,0:55,8:96,131:19,6:-,chr2 g.228463664C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 228463689 rs76716338 T C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:8:6:0:0:3,5:99,149:9.04,0.00:2.85,0.00:6.19,0.00:0.67,0.00:0.93,0.00:0.95,0.00:60,60:130.3,0.0:0,0:0,0:32,39:107,112:6,11:chr2 g.228463688T>C (intergenic),-:0.08,-:NOT_FOUND,- 2 228475884 rs2176187 C T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=C2orf83/NM_001162483.1/1;CC=c.*483G>A;VC=3UTR;Gene=C2orf83/NM_020161.3/0;CC=c.*226G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:6:6:0:0:3,3:95,96:0.00,9.22:0.00,9.22:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:2.7,32.0:0,0:0,0:23,33:128,116:13,1:-,NM_020161.3(C2orf83) c.*226G>A:-,0.3:-,NOT_FOUND 2 228476140 rs2176186 C T 100 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;PC=0.002;Gene=C2orf83/NM_001162483.1/1;CC=c.*227G>A;VC=3UTR;Gene=C2orf83/NM_020161.3/0;CC=c.423G>A;ProtCh=p.W141*;VC=Nonsense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:72:0:0:54,34:1792,1094:0.00,100.14:0.00,63.67:0.00,36.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,49.6:0,0:0,0:69,42:72,98:39,26:-,NM_020161.3(C2orf83) c.423G>A (p.Trp141*):-,0.31:-,0.280793 2 228476253 rs2138402 C G 424 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=NA;Gene=C2orf83/NM_001162483.1/1;CC=c.*114G>C;VC=3UTR;Gene=C2orf83/NM_020161.3/0;CC=c.310G>C;ProtCh=p.E104Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:113:71:0:0:112,1:3710,8:423.73,0.05:195.97,0.05:227.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,97.0:0,0:0,0:76,110:71,41:32,0:NM_020161.3(C2orf83) c.310G>C (p.Glu104Gln),NM_020161.3(C2orf83) c.310G>C (p.Glu104Gln):0.88,0.88:0.81916,0.81916 2 228476373 . C . . NT END=228477655;NT GT ./. 2 228477751 . C . . NT END=228497684;NT GT ./. 2 228483326 rs71412132 G GACAC 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=13;NP=4;PC=0.025;Gene=C2orf83/NM_001162483.1/1;CC=c.191-5577_191-5576insGTGT;VC=Intron;Gene=C2orf83/NM_020161.3/0;CC=c.191-6955_191-6954insGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G,GACAC:5:4:2:0:1,2,2:10,71,68:0.60,0.00,6.51:-0.10,0.00,5.00:0.70,0.00,1.52:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.87:60,60,60:114.0,4.0,20.5:0,2,0:0,0,0:109,69,94:32,54,55:0,22,7:-,NM_020161.3(C2orf83) c.191-6955_191-6954insGTGT:-,NOT_FOUND:-,NOT_FOUND 2 228497469 rs59004229 T A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=C2orf83/NM_001162483.1/1;CC=c.117+216A>T;VC=Intron;Gene=C2orf83/NM_020161.3/0;CC=c.117+216A>T;VC=Intron;DM=C2orf83/Folate_carrier GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,T:6:6:0:0:3,3:102,84:9.83,0.00:9.83,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:34.0,5.7:0,0:0,0:83,82:66,66:16,48:NM_020161.3(C2orf83) c.117+216A>T,-:0.18,-:NOT_FOUND,- 2 228497802 . G . . NT END=228552112;NT GT ./. 2 228552290 . C . . NT END=228552881;NT GT ./. 2 228552709 rs13025803 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SLC19A3/NM_025243.3/1;CC=c.1314+173G>A;VC=Intron;DM=SLC19A3/Folate_carrier GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:10:9:0:0:5,5:172,157:0.00,15.07:0.00,11.50:0.00,3.58:0.00,0.95:0.00,1.00:0.00,0.67:60,60:2.4,44.8:0,0:0,0:35,97:116,53:17,37:-,NM_025243.3(SLC19A3) c.1314+173G>A:-,0.28:-,NOT_FOUND 2 228553024 . C . . NT END=228560604;NT GT ./. 2 228560798 . C . . NT END=228563451;NT GT ./. 2 228560800 rs397822125 GA G 245 rn VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3366;PC=0.005;Gene=SLC19A3/NM_025243.3/1;CC=c.980-4delT;VC=Intron;DM=SLC19A3/Folate_carrier;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:GA,G:79:41:0:70:9,70:279,2238:0.00,245.08:0.00,76.75:0.00,168.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,3.8:0,0:0,0:146,99:5,44:2,26:-,NM_025243.3(SLC19A3) c.980-4delT:-,NOT_FOUND:-,0.938738 2 228560834 rs79287293 C CT 89 nt VT=INS;SST=Single;DP=61;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=391;Gene=SLC19A3/NM_025243.3/1;CC=c.980-38dupA;VC=Intron;DM=SLC19A3/Folate_carrier;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:61:19:29:0:32,29:1085,939:0.00,89.40:0.00,24.81:0.00,64.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,2.3:0,0:0,0:116,92:25,57:27,39:-,NM_025243.3(SLC19A3) c.980-38_980-37insA:-,0.14:-,0.09412 2 228563239 rs7602410 C T 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.012;Gene=SLC19A3/NM_025243.3/1;CC=c.979+213G>A;VC=Intron;DM=SLC19A3/Folate_carrier GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:33.5:0:0:69:81:19:NM_025243.3(SLC19A3) c.979+213G>A,NM_025243.3(SLC19A3) c.979+213G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 2 228564281 . C . . NT END=228565628;NT GT ./. 2 228565656 rs11694828 G A 131 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=SLC19A3/NM_025243.3/1;CC=c.150+1229C>T;VC=Intron;DM=SLC19A3/Folate_carrier;DM=SLC19A3/Folate_carrier;DM=SLC19A3/Folate_carrier;DM=SLC19A3/Folate_carrier;DM=SLC19A3/Folate_carrier;DM=SLC19A3/Folate_carrier GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:93:76:0:0:44,49:1379,1631:130.93,0.00:92.47,0.00:38.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.5,12.5:0,0:0,0:35,51:107,98:28,18:NM_025243.3(SLC19A3) c.150+1229C>T,-:0.28,-:NOT_FOUND,- 2 228565825 . C . . NT END=228566884;NT GT ./. 2 228567037 . C . . NT END=228571030;NT GT ./. 2 228567098 rs6713116 C T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=SLC19A3/NM_025243.3/1;CC=c.-2-62G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:13:0:0:25,15:735,474:0.00,43.13:0.00,5.33:0.00,37.80:0.00,1.00:0.00,0.99:0.00,1.00:70,60:7.3,48.8:0,0:0,0:111,116:30,35:29,22:-,NM_025243.3(SLC19A3) c.-2-62G>A:-,0.19:-,NOT_FOUND 2 228567111 rs71039629 AT A 31 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=354;PC=0.113;Gene=SLC19A3/NM_025243.3/1;CC=c.-2-76delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,A:31:9:0:15:19,1,11:581,10,409:0.00,-0.00,31.07:0.00,-0.07,2.37:0.00,0.07,28.70:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,70:19.4,145.0,18.0:0,0,2:0,0,0:124,86,86:17,52,65:23,0,31:-,NM_025243.3(SLC19A3) c.-2-76delA:-,NOT_FOUND:-,NOT_FOUND 2 228567260 rs68136760 C A 12 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.003;Gene=SLC19A3/NM_025243.3/1;CC=c.-2-224G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,C:8:1:0:0:4,4:128,126:12.30,0.00:-0.30,0.00:12.60,0.00:0.87,0.00:0.67,0.00:0.99,0.00:60,60:32.0,0.0:0,0:0,0:76,109:74,41:3,14:NM_025243.3(SLC19A3) c.-2-224G>T,-:0.28,-:NOT_FOUND,- 2 228571228 . t . . NT END=228579164;NT GT ./. 2 228571304 rs6436728 G T 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SLC19A3/NM_025243.3/1;CC=c.-2-4268C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:2:0:0:14:439:50.57:5.87:44.71:1.00:1.00:1.00:60:32.6:0:0:131:19:13:NM_025243.3(SLC19A3) c.-2-4268C>A,NM_025243.3(SLC19A3) c.-2-4268C>A:0.97,0.97:NOT_FOUND,NOT_FOUND 2 228579329 . A . . NT END=228582658;NT GT ./. 2 228579419 . CAA C 9 idl,rn VT=DEL;SST=Single;DP=21;PC=0.002;Gene=SLC19A3/NM_025243.3/1;CC=c.-3+3238_-3+3239delTT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,CAA,C:17:5:0:13:1,12,4:12,334,226:0.23,0.00,8.73:-0.06,0.00,1.25:0.30,0.00,7.48:0.00,0.00,0.70:0.00,0.00,0.64:0.00,0.00,0.94:60,60,60:198.0,32.8,97.5:0,0,4:0,0,0:108,136,117:17,14,31:0,8,4:-,NM_025243.3(SLC19A3) c.-3+3238_-3+3239delTT:-,NOT_FOUND:-,NOT_FOUND 2 228579521 . CTT C 8 rn VT=DEL;SST=Single;DP=7;PC=0.005;Gene=SLC19A3/NM_025243.3/1;CC=c.-3+3136_-3+3137delAA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:CTT,I,C:7:0:1:3:3,1,3:75,25,83:0.00,1.94,7.91:0.00,0.00,0.00:0.00,1.94,7.91:0.00,0.00,0.69:0.00,0.00,0.00:0.00,0.00,0.69:60,60,60:65.0,152.0,30.7:0,0,0:0,0,0:144,122,100:-4,8,51:5,0,4:-,NM_025243.3(SLC19A3) c.-3+3136_-3+3137delAA:-,NOT_FOUND:-,NOT_FOUND 2 228582746 rs4972919 G A 534 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=145;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:145:106:0:0:145:4655:534.34:261.97:272.38:1.00:1.00:1.00:60:36.9:0:0:85:61:23:NM_025243.3(SLC19A3) c.-89-u1C>T,NM_025243.3(SLC19A3) c.-89-u1C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 2 228582807 . A . . NT END=228678627;NT GT ./. 2 228678704 . G . . NT END=228680169;NT GT ./. 2 228680153 rs397976487 C CT 12 idl,rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=11;PC=0.001;Gene=CCL20/NM_001130046.1/0;CC=c.77-6dupT;VC=Intron;Gene=CCL20/NM_004591.2/1;CC=c.77-3dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,CT,D:29:24:5:4:21,5,3:695,154,113:0.00,12.23,7.27:0.00,5.80,4.68:0.00,6.43,2.59:0.00,0.80,0.00:0.00,0.96,0.00:0.00,0.81,0.00:60,60,60:22.7,7.8,14.3:0,0,1:0,0,0:58,55,24:90,88,125:33,12,14:-,NM_004591.2(CCL20) c.77-17_77-16insT:-,NOT_FOUND:-,NOT_FOUND 2 228680285 . G . . NT END=228681022;NT GT ./. 2 228681101 . G . . NT END=228681777;NT GT ./. 2 228681800 . A . . NT END=228736405;NT GT ./. 2 228734836 rs12464933 T A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.036 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,T:16:15:0:0:6,10:192,285:17.48,0.00:11.49,0.00:5.99,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:49.0,13.8:0,0:0,0:34,44:116,104:16,13:NM_178821.1(WDR69) c.-79-u1491T>A,-:0.48,-:NOT_FOUND,- 2 228734956 rs12476836 G A 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.021 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:18:0:0:13,12:425,368:41.18,0.00:37.46,0.00:3.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:103.8,14.4:0,0:0,0:63,58:87,93:54,35:NM_178821.1(WDR69) c.-79-u1371G>A,-:0.48,-:NOT_FOUND,- 2 228735030 rs34877825 G C 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:34:24:0:0:19,15:610,462:59.91,0.00:39.10,0.00:20.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:124.1,12.2:0,0:0,0:48,52:101,99:31,33:NM_178821.1(WDR69) c.-79-u1297G>C,-:0.49,-:NOT_FOUND,- 2 228735034 rs78489887 A G 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:24:0:0:14,20:441,554:0.00,54.82:0.00,34.01:0.00,20.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,122.4:0,0:0,0:57,61:94,88:31,34:-,NM_178821.1(WDR69) c.-79-u1293A>G:-,0.41:-,NOT_FOUND 2 228735035 rs74953232 C T 60 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=NA;PC=0.096 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:24:0:0:15,19:464,608:0.00,59.76:0.00,36.90:0.00,22.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,124.1:0,0:0,0:59,53:92,96:32,31:-,NM_178821.1(WDR69) c.-79-u1292C>T:-,0.41:-,NOT_FOUND 2 228735140 rs34862621 T C 113 nt VT=SNV;PN=G;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.832 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:56:38:0:0:1,34,21:11,1128,681:0.04,113.06,0.00:-0.08,51.37,0.00:0.12,61.69,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:209.0,79.9,11.0:0,0,0:0,0,0:21,92,81:130,54,53:0,17,12:NM_178821.1(WDR69) c.-79-u1187T>C,-:0.49,-:NOT_FOUND,- 2 228735186 rs61343551 T C 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:22:0:0:25,16:815,529:81.51,0.00:25.97,0.00:55.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:79.3,11.7:0,0:0,0:115,124:36,24:18,10:NM_178821.1(WDR69) c.-79-u1141T>C,-:0.49,-:NOT_FOUND,- 2 228735267 rs6737993 T C 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:0:0:0:17:443:52.26:0.00:52.26:1.00:0.00:1.00:60:74.6:0:0:108:43:31:NM_178821.1(WDR69) c.-79-u1060T>C,NM_178821.1(WDR69) c.-79-u1060T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 2 228735299 rs66687055 A G 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:A,G:10:0:0:0:5,5:134,139:0.00,13.28:0.00,0.00:0.00,13.28:0.00,0.95:0.00,0.00:0.00,0.95:60,60:29.2,96.6:0,0:0,0:135,115:16,36:5,25:-,NM_178821.1(WDR69) c.-79-u1028A>G:-,0.49:-,NOT_FOUND 2 228736313 rs12478068 G T 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:48:45:0:0:26,22:740,773:0.00,73.49:0.00,55.96:0.00,17.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.5,35.5:0,0:0,0:64,32:84,118:37,22:-,NM_178821.1(WDR69) c.-79-u14G>T:-,0.47:-,NOT_FOUND 2 228736446 . G . . NT END=228741158;NT GT ./. 2 228736527 rs12470042 A G 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=0.006;Gene=DAW1/NM_178821.1/1;CC=c.40+82A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:18:0:0:29,31:941,972:0.00,93.94:0.00,14.13:0.00,79.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.4,47.1:0,0:0,0:109,79:38,71:28,25:-,NM_178821.1(WDR69) c.40+82A>G:-,0.47:-,0.477661 2 228736608 rs10933219 C T 49 nt VT=SNV;PN=G;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.007;Gene=DAW1/NM_178821.1/1;CC=c.40+163C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:0:0:0:16,17:536,506:0.00,48.76:0.00,0.00:0.00,48.76:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.9,58.8:0,0:0,0:105,115:46,36:22,21:-,NM_178821.1(WDR69) c.40+163C>T:-,0.47:-,NOT_FOUND 2 228740902 rs7583414 A T 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.007;Gene=DAW1/NM_178821.1/1;CC=c.40+4457A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,T:9:9:0:0:2,7:66,181:0.00,19.26:0.00,19.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.0,86.9:0,0:0,0:56,41:94,110:45,27:-,NM_178821.1(WDR69) c.40+4457A>T:-,0.41:-,NOT_FOUND 2 228740927 rs4972994 G A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.020;Gene=DAW1/NM_178821.1/1;CC=c.40+4482G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:186:A,G:14:14:0:0:8,6:242,184:23.86,0.00:23.86,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:93.2,43.7:0,0:0,0:36,22:112,125:23,12:NM_178821.1(WDR69) c.40+4482G>A,-:0.49,-:NOT_FOUND,- 2 228741211 . G . . NT END=228750066;NT GT ./. 2 228741250 rs7571353 T A 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.40+4805T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:38:11:0:0:20,1,17:618,11,522:60.24,0.08,0.00:8.60,-0.05,0.00:51.65,0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.8,79.0,14.5:0,0,0:0,0,0:100,140,98:50,11,51:31,0,28:NM_178821.1(WDR69) c.40+4805T>A,-:0.41,-:NOT_FOUND,- 2 228750140 . G . . NT END=228754571;NT GT ./. 2 228750239 rs4973445 G T 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.113+100G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:17:2:0:0:8,9:273,279:0.00,27.09:0.00,-0.33:0.00,27.41:0.00,1.00:0.00,0.82:0.00,1.00:60,60:0.0,51.6:0,0:0,0:121,106:29,40:9,38:-,NM_178821.1(WDR69) c.113+100G>T:-,0.52:-,NOT_FOUND 2 228754717 . G . . NT END=228755970;NT GT ./. 2 228756030 . G . . NT END=228758510;NT GT ./. 2 228758249 rs62192083 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.003;Gene=DAW1/NM_178821.1/1;CC=c.318-262G>A;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:A,G:14:14:0:0:6,8:140,151:12.77,0.00:12.77,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:44.7,26.4:0,0:0,0:21,61:129,88:15,35:NM_178821.1(WDR69) c.318-262G>A,-:0.13,-:NOT_FOUND,- 2 228758456 rs35758334 C A 123 nt VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.318-55C>A;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:100:86:0:0:44,56:1317,1808:122.79,0.00:87.23,0.00:35.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,8.5:0,0:0,0:48,60:99,87:27,34:NM_178821.1(WDR69) c.318-55C>A,-:0.4,-:NOT_FOUND,- 2 228758634 . G . . NT END=228762897;NT GT ./. 2 228761309 rs5839240 AGT A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=81;PC=0.007;Gene=DAW1/NM_178821.1/1;CC=c.441-1552_441-1551delGT;VC=Intron;DM=DAW1/WD40;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:AGT,A:6:3:0:5:3,3:91,125:0.00,8.70:0.00,1.51:0.00,7.19:0.00,0.69:0.00,0.83:0.00,0.69:60,60:53.0,12.0:0,1:0,0:100,48:34,80:23,28:-,NM_178821.1(WDR69) c.441-1588_441-1587delGT:-,NOT_FOUND:-,NOT_FOUND 2 228762998 . G . . NT END=228767717;NT GT ./. 2 228763186 rs34261340 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DAW1/NM_178821.1/1;CC=c.540+189G>A;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:8:0:0:0:3,5:91,165:8.23,0.00:0.00,0.00:8.23,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:39.3,9.8:0,0:0,0:80,109:70,42:32,9:NM_178821.1(WDR69) c.540+189G>A,-:0.4,-:NOT_FOUND,- 2 228767618 rs2949014 T C 77 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.541-100T>C;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A,C:22:22:0:0:1,21:24,674:1.54,76.96:1.54,74.98:0.00,1.98:0.00,1.00:0.00,1.00:0.00,0.97:60,60:187.0,58.3:0,0:0,0:2,38:148,113:0,26:NM_178821.1(WDR69) c.541-100T>C,NM_178821.1(WDR69) c.541-100T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 2 228767631 rs2946931 G T 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.541-87G>T;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:23:0:0:10,13:310,387:0.00,38.03:0.00,36.50:0.00,1.53:0.00,1.00:0.00,1.00:0.00,0.84:60,60:38.1,86.1:0,0:0,0:53,40:97,110:32,15:-,NM_178821.1(WDR69) c.541-87G>T:-,0.38:-,NOT_FOUND 2 228767826 . G . . NT END=228769644;NT GT ./. 2 228769752 . G . . NT END=228770951;NT GT ./. 2 228771055 . G . . NT END=228771853;NT GT ./. 2 228771819 rs370563385 CT C 15 idl,rn VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=31;PC=0.004;Gene=DAW1/NM_178821.1/1;CC=c.859-24delT;VC=Intron;DM=DAW1/WD40;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:CT,I,C:52:46:4:6:43,3,6:1414,128,196:0.00,6.11,14.55:0.00,5.16,8.32:0.00,0.95,6.23:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.87:60,60,60:18.8,61.0,14.0:0,1,0:0,0,0:48,83,62:101,68,82:32,7,23:-,NM_178821.1(WDR69) c.859-34delT:-,NOT_FOUND:-,NOT_FOUND 2 228771969 . G . . NT END=228776969;NT GT ./. 2 228772168 rs13393365 T C 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DAW1/NM_178821.1/1;CC=c.973+200T>C;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:174:20.22:0.00:20.22:1.00:0.00:1.00:60:41.5:0:0:123:26:13:NM_178821.1(WDR69) c.973+200T>C,NM_178821.1(WDR69) c.973+200T>C:0.44,0.44:NOT_FOUND,NOT_FOUND 2 228776938 rs3748863 A G 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.973+4970A>G;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:A,G:19:19:0:0:6,13:197,378:0.00,38.85:0.00,38.85:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:27.7,38.1:0,0:0,0:41,35:109,115:22,17:-,NM_178821.1(WDR69) c.973+4970A>G:-,0.37:-,NOT_FOUND 2 228776996 rs3748862 T C 35 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.033;Gene=DAW1/NM_178821.1/1;CC=c.973+5028T>C;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:31:0:0:12,20:383,696:34.83,0.00:29.14,0.00:5.69,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:32.7,23.6:0,0:0,0:53,63:97,87:26,29:NM_178821.1(WDR69) c.973+5028T>C,-:0.45,-:NOT_FOUND,- 2 228777186 . G . . NT END=228783495;NT GT ./. 2 228777448 rs16824197 C T 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.973+5480C>T;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:G,T:10:0:0:0:1,9:12,262:0.73,29.99:0.00,0.00:0.73,29.99:0.00,1.00:0.00,0.00:0.00,1.00:60,60:254.0,51.2:0,0:0,0:67,107:82,41:0,19:NM_178821.1(WDR69) c.973+5480C>T,NM_178821.1(WDR69) c.973+5480C>T:0.83,0.83:NOT_FOUND,NOT_FOUND 2 228783364 rs4973494 A C 65 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.974-132A>C;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:570:65.11:65.11:0.00:1.00:1.00:0.00:60:47.8:0:0:28:123:19:NM_178821.1(WDR69) c.974-132A>C,NM_178821.1(WDR69) c.974-132A>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 228783479 rs1533960 C A 97 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.974-17C>A;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:58:51:0:0:30,28:1001,898:96.97,0.00:78.41,0.00:18.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,11.7:0,0:0,0:41,56:109,82:18,30:NM_178821.1(WDR69) c.974-17C>A,-:0.2,-:0.210288,- 2 228783573 . G . . NT END=228786114;NT GT ./. 2 228786278 . G . . NT END=228788649;NT GT ./. 2 228788461 rs76897409 GA G 7 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=59;Gene=DAW1/NM_178821.1/1;CC=c.1214-176delA;VC=Intron;DM=DAW1/WD40;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:GA,I,G:15:16:1:4:11,1,3:306,34,122:0.00,2.37,7.17:0.00,2.37,7.17:0.00,0.00,0.00:0.00,0.00,0.54:0.00,0.00,0.54:0.00,0.00,0.00:60,60,60:23.8,0.0,46.3:0,0,1:0,0,0:86,76,53:65,74,97:47,0,28:-,NM_178821.1(WDR69) c.1214-188delA:-,NOT_FOUND:-,NOT_FOUND 2 228788484 rs1721344 T C 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=DAW1/NM_178821.1/1;CC=c.1214-166T>C;VC=Intron;DM=DAW1/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T,I:19:19:1:0:10,8,1:322,241,16:31.59,0.00,0.66:31.59,0.00,0.66:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:37.9,10.5,47.0:0,0,0:0,0,0:47,72,2:103,78,148:43,40,0:NM_178821.1(WDR69) c.1214-166T>C,-:0.44,-:NOT_FOUND,- 2 228788685 . C . . NT END=228846432;NT GT ./. 2 228846763 rs1011344 G C 305 idl VT=SNV;PN=A;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SPHKAP/NM_001142644.1/1;CC=c.4960-187C>G;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.4873-187C>G;VC=Intron;DM=SPHKAP/AKAP_110 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:86:51:0:0:85,1:2670,10:305.47,0.00:162.20,0.00:143.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.3,206.0:70,1:0,0:71,74:75,76:28,0:NM_001142644.1(SPHKAP) c.4960-187C>G,NM_001142644.1(SPHKAP) c.4960-187C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 228846765 rs2251378 G A 288 idl VT=SNV;PN=T;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=0.054;Gene=SPHKAP/NM_001142644.1/1;CC=c.4960-189C>T;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.4873-189C>T;VC=Intron;DM=SPHKAP/AKAP_110 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:84:51:0:2:84:2487:288.27:146.29:141.98:1.00:1.00:1.00:60:82.9:71:0:72:74:27:NM_001142644.1(SPHKAP) c.4960-189C>T,NM_001142644.1(SPHKAP) c.4960-189C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 228846767 rs5839250 ATTT A 186 idl,rn VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;Gene=SPHKAP/NM_001142644.1/1;CC=c.4960-194_4960-192delAAA;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.4873-194_4873-192delAAA;VC=Intron;DM=SPHKAP/AKAP_110;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTT,G,A:72:51:0:71:14,1,57:411,11,2042:0.00,0.07,186.25:0.00,0.10,90.71:0.00,-0.02,95.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:68.3,113.0,98.2:2,0,10:0,0,0:117,118,65:16,14,81:19,0,21:-,NM_001142644.1(SPHKAP) c.4960-194_4960-192delAAA:-,NOT_FOUND:-,NOT_FOUND 2 228847063 . A . . NT END=228855715;NT GT ./. 2 228855901 . C . . NT END=228855989;NT GT ./. 2 228855958 rs16824284 T C 599 nt VT=SNV;PN=A;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=NA;PC=0.192;Gene=SPHKAP/NM_001142644.1/1;CC=c.4774+32A>G;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.4687+32A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:156:82:0:0:156:5250:599.23:218.24:381.00:1.00:1.00:1.00:60:37.6:0:0:85:62:37:NM_001142644.1(SPHKAP) c.4774+32A>G,NM_001142644.1(SPHKAP) c.4774+32A>G:0.26,0.26:0.201676,0.201676 2 228856043 . C . . NT END=228856201;NT GT ./. 2 228856387 . A . . NT END=228856475;NT GT ./. 2 228856529 . T . . NT END=228858249;NT GT ./. 2 228856536 rs4973547 A C 152 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.4722-494T>G;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.4635-494T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:11:0:0:40:1331:152.14:30.92:121.22:1.00:1.00:1.00:60:42.5:0:0:107:39:28:NM_001142644.1(SPHKAP) c.4722-494T>G,NM_001142644.1(SPHKAP) c.4722-494T>G:0.5,0.5:NOT_FOUND,NOT_FOUND 2 228858337 . C . . NT END=228858735;NT GT ./. 2 228858553 rs10173136 C A 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.4635-217G>T;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.4634+1672G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:4:0:0:14:449:51.57:15.01:36.57:1.00:1.00:1.00:60:40.9:0:0:121:29:19:NM_001142644.1(SPHKAP) c.4635-217G>T,NM_001142644.1(SPHKAP) c.4635-217G>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 228858823 . G . . NT END=228860224;NT GT ./. 2 228860411 . C . . NT END=228860710;NT GT ./. 2 228860897 . T . . NT END=228881121;NT GT ./. 2 228880985 rs370982894 AT A 23 idl,rn VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=96;PC=0.002;Gene=SPHKAP/NM_001142644.1/1;CC=c.4448+136delA;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.4448+136delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:33:31:3:10:21,3,9:632,97,304:0.00,7.13,23.40:0.00,6.00,16.45:0.00,1.13,6.96:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.95:60,60,60:53.4,47.0,48.6:0,0,1:0,0,0:17,28,54:130,101,96:13,16,25:-,NM_001142644.1(SPHKAP) c.4448+136delA:-,NOT_FOUND:-,NOT_FOUND 2 228882970 rs3828161 T C 580 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=170;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SPHKAP/NM_001142644.1/1;CC=c.2600A>G;ProtCh=p.Q867R;VC=Missense;Gene=SPHKAP/NM_030623.3/0;CC=c.2600A>G;ProtCh=p.Q867R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:170:100:0:0:2,167,1:22,5041,35:0.29,579.82,0.00:0.29,271.20,0.00:-0.00,308.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:141.5,38.7,0.0:0,0,0:0,0,0:93,76,11:50,73,92:8,34,0:NM_001142644.1(SPHKAP) c.2600A>G (p.Gln867Arg),NM_001142644.1(SPHKAP) c.2600A>G (p.Gln867Arg):0.25,0.25:0.203752,0.203752 2 228883721 rs3811514 T C 600 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=NA;PC=0.795;Gene=SPHKAP/NM_001142644.1/1;CC=c.1849A>G;ProtCh=p.K617E;VC=Missense;Gene=SPHKAP/NM_030623.3/0;CC=c.1849A>G;ProtCh=p.K617E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:163:118:0:0:162,1:5229,11:599.58,0.08:363.12,0.00:236.45,0.08:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,163.0:0,0:0,0:78,81:70,66:39,0:NM_001142644.1(SPHKAP) c.1849A>G (p.Lys617Glu),NM_001142644.1(SPHKAP) c.1849A>G (p.Lys617Glu):0.62,0.62:0.579656,0.579656 2 228884974 . a . . NT END=228886426;NT GT ./. 2 228886683 . C . . NT END=228886912;NT GT ./. 2 228886958 . g . . NT END=228890109;NT GT ./. 2 228890245 . C . . NT END=228890595;NT GT ./. 2 228890632 . c . . NT END=228892199;NT GT ./. 2 228892260 . C . . NT END=228892685;NT GT ./. 2 228892676 rs61035117 G GA 72 idl,rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=54;PC=0.017;Gene=SPHKAP/NM_001142644.1/1;CC=c.247-418_247-417insT;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.247-418_247-417insT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA,D:37:39:25:4:2,11,22,2:16,371,803,123:0.24,0.00,71.87,3.59:0.28,0.00,56.48,3.63:-0.04,0.00,15.38,-0.04:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:59.5,4.7,28.5,13.0:0,0,3,2:0,0,0,0:95,98,74,80:41,53,77,70:26,46,25,18:-,NM_001142644.1(SPHKAP) c.247-418_247-417insT:-,NOT_FOUND:-,NOT_FOUND 2 228892746 . C . . NT END=228973547;NT GT ./. 2 228973383 rs67714256 A C 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.246+165T>G;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.246+165T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,C:14:14:0:0:5,9:138,307:0.00,31.04:0.00,31.04:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:29.4,43.0:0,0:0,0:4,70:136,81:4,29:-,NM_001142644.1(SPHKAP) c.246+165T>G:-,0.39:-,NOT_FOUND 2 228973656 . C . . NT END=228974033;NT GT ./. 2 228973660 rs7561798 A G 105 nt VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SPHKAP/NM_001142644.1/1;CC=c.139-5T>C;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.139-5T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:59:29:0:0:25,1,33:845,5,1063:0.00,-0.15,104.78:0.00,-0.08,27.66:0.00,-0.07,77.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.3,51.0,38.0:0,0,0:0,0,0:105,129,96:44,22,50:12,0,30:-,NM_001142644.1(SPHKAP) c.139-5T>C:-,0.5:-,0.433108 2 228973723 rs11374866 C CT 27 sb;idl,rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=195;PC=0.001;Gene=SPHKAP/NM_001142644.1/1;CC=c.139-69dupA;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.139-69dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:24:9:13:2:13,9,2:392,421,64:0.00,27.48,4.64:0.00,-2.45,2.69:0.00,29.92,1.96:0.00,0.99,0.00:0.00,0.95,0.00:0.00,1.00,0.00:60,60,60:37.2,40.6,28.5:1,4,0:0,0,0:119,106,73:29,45,77:24,11,56:-,NM_001142644.1(SPHKAP) c.139-69_139-68insA:-,NOT_FOUND:-,NOT_FOUND 2 228974142 . T . . NT END=228995987;NT GT ./. 2 228996031 . C . . NT END=228996473;NT GT ./. 2 228996116 rs4973616 A G 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+580T>C;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+580T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:7:0:0:13,13:413,380:0.00,36.33:0.00,5.00:0.00,31.33:0.00,1.00:0.00,0.99:0.00,1.00:60,70:4.8,37.2:0,0:0,0:67,81:84,70:22,24:-,NM_001142644.1(SPHKAP) c.138+580T>C:-,0.39:-,NOT_FOUND 2 228996202 rs200882902 C CT 15 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=1;NP=241;PC=0.009;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+493dupA;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+493dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,CT:16:2:6:0:10,6:322,166:0.00,14.87:0.00,6.10:0.00,8.77:0.00,1.00:0.00,0.67:0.00,1.00:60,70:12.8,42.3:0,0:0,0:127,55:23,96:19,43:-,NM_001142644.1(SPHKAP) c.138+493_138+494insA:-,NOT_FOUND:-,NOT_FOUND 2 228996424 rs4246653 A G 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+272T>C;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+272T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:30:0:0:20,15:658,442:0.00,40.90:0.00,32.11:0.00,8.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,99.7:0,0:0,0:46,41:100,110:23,26:-,NM_001142644.1(SPHKAP) c.138+272T>C:-,0.39:-,NOT_FOUND 2 228996438 rs4246654 A G 63 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+258T>C;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+258T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:33:0:0:22,20:731,658:0.00,62.72:0.00,41.31:0.00,21.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,91.1:0,0:0,0:53,45:94,100:19,35:-,NM_001142644.1(SPHKAP) c.138+258T>C:-,0.39:-,NOT_FOUND 2 228996470 rs4353645 A G 74 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+226T>C;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+226T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:40:0:0:29,24:914,784:0.00,74.01:0.00,47.33:0.00,26.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,75.3:0,0:0,0:62,43:81,90:29,22:-,NM_001142644.1(SPHKAP) c.138+226T>C:-,0.39:-,NOT_FOUND 2 228996517 . A . . NT END=228996695;NT GT ./. 2 228996637 rs4479423 G A 74 nt VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+59C>T;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+59C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:39:0:0:24,26:773,768:73.75,0.00:56.31,0.00:17.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:97.1,1.7:0,0:0,0:62,56:89,95:42,39:NM_001142644.1(SPHKAP) c.138+59C>T,-:0.39,-:NOT_FOUND,- 2 228996650 rs4353646 A G 94 nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+46T>C;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+46T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:53:45:0:0:23,29,1:718,954,8:0.00,93.72,-0.08:0.00,73.40,-0.03:0.00,20.33,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:1.9,97.7,77.0:0,0,0:0,0,0:63,32,110:87,112,39:34,23,0:-,NM_001142644.1(SPHKAP) c.138+46T>C:-,0.39:-,0.335768 2 228996672 rs4585022 G A 119 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SPHKAP/NM_001142644.1/1;CC=c.138+24C>T;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.138+24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:54:0:0:37,25:1192,855:118.68,0.00:90.34,0.00:28.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:83.4,1.7:0,0:0,0:38,75:107,74:25,31:NM_001142644.1(SPHKAP) c.138+24C>T,-:0.37,-:0.315547,- 2 228996802 . C . . NT END=228997181;NT GT ./. 2 228996995 rs5013548 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.33-194G>A;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.33-194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:0:0:0:7,6:220,205:0.00,19.47:0.00,0.00:0.00,19.47:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,62.5:0,0:0,0:68,78:83,71:31,40:-,NM_001142644.1(SPHKAP) c.33-194G>A:-,0.39:-,NOT_FOUND 2 228997009 rs66910205 C T 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.33-208G>A;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.33-208G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,T:11:0:0:0:6,5:193,170:0.00,16.09:0.00,0.00:0.00,16.09:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,68.4:0,0:0,0:72,78:79,73:21,29:-,NM_001142644.1(SPHKAP) c.33-208G>A:-,0.39:-,NOT_FOUND 2 228997288 . C . . NT END=229037711;NT GT ./. 2 228997298 rs68009408 G A 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.33-497C>T;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.33-497C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:18:0:0:9,15:288,466:26.18,0.00:17.60,0.00:8.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,8.5:0,0:0,0:82,93:68,45:31,21:NM_001142644.1(SPHKAP) c.33-497C>T,-:0.39,-:NOT_FOUND,- 2 229037715 . g . . NT END=229046282;NT GT ./. 2 229037885 rs4973620 T C 105 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=SPHKAP/NM_001142644.1/1;CC=c.32+8398A>G;VC=Intron;Gene=SPHKAP/NM_030623.3/0;CC=c.32+8398A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:10:0:0:28:918:105.07:21.27:83.80:1.00:1.00:1.00:60:37.7:0:0:108:43:15:NM_001142644.1(SPHKAP) c.32+8398A>G,NM_001142644.1(SPHKAP) c.32+8398A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 229046733 rs79159547 C T 326 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=216;DB;DBA=NA;PAF=NA;PC=0.148 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:216:145:0:0:1,111,1,103:7,3643,11,3409:-0.22,0.00,-0.17,325.63:-0.08,0.00,-0.04,170.55:-0.14,0.00,-0.14,155.08:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:99.0,9.5,121.0,41.4:0,0,0,0:0,0,0,0:78,71,17,84:69,74,120,59:0,38,0,32:-,NM_001142644.1(SPHKAP) c.-47-u372G>A:-,0.11:-,NOT_FOUND 2 229046790 . C . . NT END=229890347;NT GT ./. 2 229046810 rs140630767 ACTC A 209 nt VT=DEL;SST=Single;DP=184;DB;DBA=NA;PAF=NA;NP=9;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTC,C,T,A:184:99:0:73:109,2,1,72:3309,21,10,2271:0.00,-0.27,-0.18,208.69:0.00,-0.21,-0.04,71.06:0.00,-0.06,-0.14,137.64:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:10.5,24.5,108.0,27.7:0,0,1,0:0,0,0,0:95,67,91,86:52,83,59,57:29,24,0,25:-,NM_001142644.1(SPHKAP) c.-47-u452_-47-u450delGAG:-,0.13:-,NOT_FOUND 2 229052737 rs13013019 A C 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=203 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:109:12.80:5.42:7.39:1.00:1.00:1.00:60:53.8:0:0:57:93:26:NM_001142644.1(SPHKAP) c.-47-u6376T>G,NM_001142644.1(SPHKAP) c.-47-u6376T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 229187335 rs60821706 G GGTGT 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=4;NP=66;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:G,GGTGT,D:6:6:4:1:1,4,1:34,121,34:0.00,12.83,3.02:0.00,13.06,3.06:0.00,-0.24,-0.04:0.00,0.93,0.00:0.00,0.93,0.00:0.00,0.78,0.00:60,60,60:0.0,29.5,0.0:0,0,0:0,0,0:108,25,74:37,121,77:0,13,0:-,chr2 g.229187335_229187336insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 229356482 rs11903315 G C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=117 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,G:5:4:0:0:3,2:106,56:10.57,0.00:3.06,0.00:7.51,0.00:0.78,0.00:0.97,0.00:0.94,0.00:60,60:97.3,39.0:0,0:0,0:50,96:88,40:6,46:chr2 g.229356481G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 229356514 rs75665239 C T 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:4:0:0:5:144:16.71:7.02:9.69:1.00:1.00:1.00:60:80.4:0:0:81:56:1:chr2 g.229356513C>T (intergenic),chr2 g.229356513C>T (intergenic):0.02,0.02:NOT_FOUND,NOT_FOUND 2 229373268 rs372809023 G GCACA 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;NP=31;PC=0.003;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,GCACA:5:5:3:0:2,3:72,101:0.00,10.07:0.00,6.91:0.00,3.16:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,0.0:0,0:0,0:115,65:34,82:9,13:-,chr2 g.229373268_229373269insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 229458559 rs113694990 A T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=549 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,T:4:4:0:0:2,2:68,71:0.00,6.85:0.00,3.27:0.00,3.58:0.00,0.51:0.00,0.51:0.00,0.89:60,60:101.0,70.5:0,0:0,0:16,102:111,40:6,17:-,chr2 g.229458558A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 229458566 rs58154006 G C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,G:4:4:0:0:3,1:106,35:11.05,0.00:5.23,0.00:5.83,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:95.7,32.0:0,1:0,0:92,17:43,133:35,0:chr2 g.229458565G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 229628694 rs71985955 AAC A 8 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=12;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:AAC,A:5:6:0:4:2,3:67,115:0.00,8.12:0.00,5.35:0.00,2.77:0.00,0.73:0.00,0.73:0.00,0.51:60,60:6.0,80.3:0,1:0,0:112,65:34,85:9,17:-,chr2 g.229628695_229628696delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 229628738 rs9677186 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:167:19.08:7.65:11.43:1.00:1.00:1.00:60:53.0:0:0:101:50:33:chr2 g.229628737C>T (intergenic),chr2 g.229628737C>T (intergenic):0.1,0.1:NOT_FOUND,NOT_FOUND 2 229890825 . C . . NT END=230020533;NT GT ./. 2 229933859 rs61118908 T G,TTGTGTGTG 11 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:61:G,TTGTGTGTG:5:3:2:0:3,2:102,63:10.96,6.46:1.88,3.23:9.09,3.23:0.78,0.00:0.94,0.00:0.78,0.00:60,60:97.7,17.0:0,0:0,0:66,53:76,96:17,2:NM_017933.4(PID1) c.271-43035A>C,NM_017933.4(PID1) c.271-43036_271-43035insCACACACA:0.52,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 230020507 rs17614185 A G 120 nt VT=SNV;PN=G;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=PID1/NM_001100818.1/0;CC=c.177+27T>C;VC=Intron;Gene=PID1/NM_017933.4/1;CC=c.270+27T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:93:81:0:0:53,40:1670,1289:0.00,120.37:0.00,77.19:0.00,43.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,38.7:0,0:0,0:46,38:101,108:27,25:-,NM_017933.4(PID1) c.270+27T>C:-,0.12:-,0.078195 2 230020681 . C . . NT END=230135729;NT GT ./. 2 230135527 rs1227013 C T 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=PID1/NM_001100818.1/0;CC=c.30+203G>A;VC=Intron;Gene=PID1/NM_017933.4/1;CC=c.-89+203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:256:29.41:29.41:0.00:1.00:1.00:0.00:60:33.5:0:0:59:91:43:NM_017933.4(PID1) c.-89+203G>A,NM_017933.4(PID1) c.-89+203G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 230135711 rs67686611 G GC 247 nt VT=INS;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=770;PC=0.062;Gene=PID1/NM_001100818.1/0;CC=c.30+18dupG;VC=Intron;Gene=PID1/NM_017933.4/1;CC=c.-89+18dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:GC:69:54:69:0:69:2143:247.18:121.80:125.38:1.00:1.00:1.00:70:8.1:0:0:54:91:28:NM_017933.4(PID1) c.-89+18_-89+19insG,NM_017933.4(PID1) c.-89+18_-89+19insG:1,1:0.997721,0.997721 2 230135760 . C . . NT END=230223255;NT GT ./. 2 230223368 . C . . NT END=230231588;NT GT ./. 2 230231836 . C . . NT END=230252980;NT GT ./. 2 230231889 rs2302769 A T 121 nt VT=SNV;PN=G;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.1856-54T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:77:24:0:0:37,1,39:1213,9,1257:0.00,-0.11,121.40:0.00,-0.05,19.58:0.00,-0.06,101.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.6,175.0,42.6:0,0,0:0,0,0:104,148,111:47,3,40:26,0,33:-,NM_139072.3(DNER) c.1856-54T>A:-,0.54:-,NOT_FOUND 2 230252758 rs207666 G A 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.523;Gene=DNER/NM_139072.3/1;CC=c.1855+223C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:A,G:18:18:0:0:12,6:358,192:36.52,0.00:36.52,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:41.9,0.8:0,0:0,0:32,57:118,93:20,22:NM_139072.3(DNER) c.1855+223C>T,-:0.75,-:NOT_FOUND,- 2 230253113 . C . . NT END=230271947;NT GT ./. 2 230271780 rs7562609 A G 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.1723+168T>C;VC=Intron;DM=DNER/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,G:12:12:0:0:5,7:162,205:0.00,20.29:0.00,20.29:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:39.6,40.1:0,0:0,0:64,85:87,66:35,45:-,NM_139072.3(DNER) c.1723+168T>C:-,0.25:-,NOT_FOUND 2 230272062 . C . . NT END=230282823;NT GT ./. 2 230282566 rs67447525 C T 7 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.1609+258G>A;VC=Intron;DM=DNER/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,T:11:11:0:0:7,4:246,83:0.00,7.05:0.00,7.05:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:21.3,111.8:0,0:0,0:59,36:90,114:47,10:-,NM_139072.3(DNER) c.1609+258G>A:-,0.08:-,NOT_FOUND 2 230282624 rs6760224 G A 78 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.1609+200C>T;VC=Intron;DM=DNER/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:22:0:0:22:678:78.24:78.24:0.00:1.00:1.00:0.00:60:49.6:0:0:35:115:24:NM_139072.3(DNER) c.1609+200C>T,NM_139072.3(DNER) c.1609+200C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 2 230282947 . C . . NT END=230312031;NT GT ./. 2 230312257 . C . . NT END=230341855;NT GT ./. 2 230341970 . C . . NT END=230377498;NT GT ./. 2 230377392 rs6717730 T C 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.397;Gene=DNER/NM_139072.3/1;CC=c.1147+107A>G;VC=Intron;DM=DNER/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:30:0:0:13,17:437,531:40.99,0.00:41.11,0.00:-0.12,0.00:1.00,0.00:1.00,0.00:0.62,0.00:60,60:45.0,9.2:0,0:0,0:85,69:66,81:54,43:NM_139072.3(DNER) c.1147+107A>G,-:0.06,-:NOT_FOUND,- 2 230377653 . C . . NT END=230411662;NT GT ./. 2 230411809 . C . . NT END=230450573;NT GT ./. 2 230450376 rs373227435 CA C 8 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=3;PC=0.009;Gene=DNER/NM_139072.3/1;CC=c.847+197delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:CA,C:14:14:0:3:11,3:351,100:0.00,8.27:0.00,8.27:0.00,0.00:0.00,0.56:0.00,0.56:0.00,0.00:60,60:57.1,10.3:0,0:0,0:35,27:115,124:34,12:-,NM_139072.3(DNER) c.847+197delT:-,NOT_FOUND:-,NOT_FOUND 2 230450377 rs6741893 A C 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=198;PC=0.009;Gene=DNER/NM_139072.3/1;CC=c.847+197T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,C:12:12:0:3:1,11:29,315:0.00,35.23:0.00,35.23:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.0,59.0:0,0:0,0:1,36:150,114:0,34:-,NM_139072.3(DNER) c.847+197T>G:-,NOT_FOUND:-,NOT_FOUND 2 230450378 rs76496759 A C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=4;PC=0.014;Gene=DNER/NM_139072.3/1;CC=c.847+196T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,C:16:16:0:0:12,4:352,130:0.00,11.01:0.00,11.01:0.00,0.00:0.00,0.75:0.00,0.75:0.00,0.00:60,60:54.8,15.8:0,0:0,0:24,22:126,128:21,14:-,NM_139072.3(DNER) c.847+196T>G:-,NOT_FOUND:-,NOT_FOUND 2 230450741 . C . . NT END=230451466;NT GT ./. 2 230451481 rs7562651 T C 587 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=158;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.681-741A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:158:133:0:0:157,1:5148,28:586.83,0.00:373.28,0.00:213.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.5,59.0:0,0:0,0:52,74:92,76:26,0:NM_139072.3(DNER) c.681-741A>G,NM_139072.3(DNER) c.681-741A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 2 230451482 rs7601543 C T 613 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=158;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.681-742G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:158:133:0:0:158:5375:612.73:399.36:213.37:1.00:1.00:1.00:60:72.1:0:0:70:77:33:NM_139072.3(DNER) c.681-742G>A,NM_139072.3(DNER) c.681-742G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 2 230451637 . G . . NT END=230453109;NT GT ./. 2 230451796 rs764410 A G 225 nt VT=SNV;PN=G;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.681-1056T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:A,C,G:62:9:0:0:1,1,60:10,10,1980:0.00,0.14,224.58:0.00,0.00,21.27:0.00,0.14,203.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:47.0,46.0,48.6:0,0,0:0,0,0:20,95,113:126,52,38:0,0,32:NM_139072.3(DNER) c.681-1056T>C,NM_139072.3(DNER) c.681-1056T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 2 230451886 rs7604611 C T 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.681-1146G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:0:0:0:23:712:82.10:0.00:82.10:1.00:0.00:1.00:60:68.9:0:0:108:42:18:NM_139072.3(DNER) c.681-1146G>A,NM_139072.3(DNER) c.681-1146G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 2 230453205 . C . . NT END=230456295;NT GT ./. 2 230453214 rs397803294 G GA 176 idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2362;Gene=DNER/NM_139072.3/1;CC=c.586-11dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:G,GA:64:46:60:0:11,53:295,1864:0.00,176.06:0.00,76.35:0.00,99.71:0.00,1.00:0.00,1.00:0.00,1.00:60,70:38.1,20.0:0,7:0,0:128,93:11,56:22,21:-,NM_139072.3(DNER) c.586-11_586-10insT:-,NOT_FOUND:-,NOT_FOUND 2 230456605 . C . . NT END=230578863;NT GT ./. 2 230456828 rs10183252 T C 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=159;Gene=DNER/NM_139072.3/1;CC=c.277-224A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C:13:0:0:0:13:352:41.22:0.00:41.22:1.00:0.00:1.00:60:62.5:0:0:85:65:26:NM_139072.3(DNER) c.277-224A>G,NM_139072.3(DNER) c.277-224A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 230456870 rs62193109 G A 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.002;Gene=DNER/NM_139072.3/1;CC=c.277-266C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:0:0:0:9:277:31.99:0.00:31.99:1.00:0.00:1.00:60:68.1:0:0:118:33:20:NM_139072.3(DNER) c.277-266C>T,NM_139072.3(DNER) c.277-266C>T:0.01,0.01:NOT_FOUND,NOT_FOUND 2 230461695 rs10933303 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.277-5091C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:134:15.31:9.39:5.92:1.00:1.00:1.00:60:93.0:0:0:65:54:32:NM_139072.3(DNER) c.277-5091C>T,NM_139072.3(DNER) c.277-5091C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 2 230461711 rs10933304 G A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.277-5107C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:138:15.71:9.79:5.92:1.00:1.00:1.00:60:93.0:0:0:81:38:32:NM_139072.3(DNER) c.277-5107C>T,NM_139072.3(DNER) c.277-5107C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 2 230548817 rs377602119 A AGTGTGT 9 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=60;Gene=DNER/NM_139072.3/1;CC=c.276+30046_276+30047insACACAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,AGTGTGT:11:10:3:0:8,3:231,100:0.00,8.64:0.00,7.19:0.00,1.45:0.00,0.60:0.00,0.93:0.00,0.65:60,60:93.5,0.0:0,0:0,0:70,23:72,117:39,1:-,NM_139072.3(DNER) c.276+30046_276+30047insACACAC:-,NOT_FOUND:-,NOT_FOUND 2 230548840 rs2396698 T G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.088;Gene=DNER/NM_139072.3/1;CC=c.276+30024A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:G,T:11:8:0:2:8,3:243,34:25.37,0.00:12.92,0.00:12.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.9,3.7:0,0:0,0:80,52:47,88:45,8:NM_139072.3(DNER) c.276+30024A>C,-:0.57,-:NOT_FOUND,- 2 230548852 rs4446063 C G 23 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=108;PC=0.001;Gene=DNER/NM_139072.3/1;CC=c.276+30012G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,C,G:14:9:0:2:1,4,9:17,95,219:0.93,0.00,22.60:0.98,0.00,11.89:-0.05,0.00,10.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:95.0,5.8,66.9:1,0,2:0,0,0:61,36,75:89,108,30:0,30,50:-,NM_139072.3(DNER) c.276+30012G>C:-,NOT_FOUND:-,NOT_FOUND 2 230548858 rs13027856 A G 7 sb;idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.276+30006T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,G:9:5:0:5:5,4:92,76:0.00,6.84:0.00,0.54:0.00,6.30:0.00,0.85:0.00,0.94:0.00,0.91:60,60:20.0,67.5:0,1:0,0:49,67:70,53:29,32:-,NM_139072.3(DNER) c.276+30006T>C:-,NOT_FOUND:-,NOT_FOUND 2 230564999 rs201862396 T TATGTGTGTGTGC 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=DNER/NM_139072.3/1;CC=c.276+13864_276+13865insGCACACACACAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TATGTGTGTGTGC:4:4:4:0:4:133:15.21:7.60:7.60:1.00:1.00:1.00:70:0.0:0:0:79:34:14:NM_139072.3(DNER) c.276+13864_276+13865insGCACACACACAT,NM_139072.3(DNER) c.276+13864_276+13865insGCACACACACAT:0.82,0.82:NOT_FOUND,NOT_FOUND 2 230579140 . g . . NT END=230632269;NT GT ./. 2 230632467 . C . . NT END=230633331;NT GT ./. 2 230633436 . C . . NT END=230633946;NT GT ./. 2 230633572 rs3215750 T TAAATC 39 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=322;Gene=TRIP12/NM_001284215.1/0;CC=c.5778-138_5778-137insGATTT;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.5823-138_5823-137insGATTT;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.4869-138_4869-137insGATTT;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.5679-138_5679-137insGATTT;VC=Intron;DM=TRIP12/HECT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAAATC:25:0:13:0:12,13:383,401:0.00,38.78:0.00,0.00:0.00,38.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.5,11.2:0,0:0,0:87,83:62,67:29,24:-,NM_004238.1(TRIP12) c.5679-138_5679-137insGATTT:-,0.3:-,NOT_FOUND 2 230634042 . C . . NT END=230636234;NT GT ./. 2 230634187 rs6759674 T A 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.390;Gene=TRIP12/NM_001284215.1/0;CC=c.5683-146A>T;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.5728-146A>T;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.4774-146A>T;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.5584-146A>T;VC=Intron;DM=TRIP12/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,T:17:0:0:1:12,5:379,155:39.15,0.00:0.00,0.00:39.15,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,70:80.0,54.0:0,0:0,0:114,80:36,67:26,42:NM_004238.1(TRIP12) c.5584-146A>T,-:0.25,-:NOT_FOUND,- 2 230636349 . C . . NT END=230638812;NT GT ./. 2 230638978 . C . . NT END=230642030;NT GT ./. 2 230642196 . C . . NT END=230643148;NT GT ./. 2 230643304 . C . . NT END=230643591;NT GT ./. 2 230643707 . C . . NT END=230650472;NT GT ./. 2 230650572 . C . . NT END=230652220;NT GT ./. 2 230652378 . C . . NT END=230653513;NT GT ./. 2 230652544 rs397988155 TC T 29 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=466;PC=0.006;Gene=TRIP12/NM_001284215.1/0;CC=c.4713-168delG;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.4758-168delG;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.3804-168delG;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.4614-168delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:1:0:8:8:254:29.21:3.58:25.64:1.00:1.00:1.00:60:13.9:0:0:123:27:17:NM_004238.1(TRIP12) c.4614-168delG,NM_004238.1(TRIP12) c.4614-168delG:0.96,0.96:NOT_FOUND,NOT_FOUND 2 230653657 . C . . NT END=230654326;NT GT ./. 2 230653669 . TA T 19 sb;idl,rn VT=DEL;SST=Single;DP=75;NP=72;Gene=TRIP12/NM_001284215.1/0;CC=c.4570-14delT;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.4615-14delT;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.3661-14delT;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.4471-14delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,TA,I,T:75:28:4:9:1,61,4,9:33,1875,129,261:1.55,0.00,8.27,18.75:1.81,0.00,2.02,0.54:-0.25,0.00,6.25,18.21:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.92:0.00,0.00,0.00,1.00:60,60,60,60:33.0,8.4,2.0,20.7:0,0,0,0:0,0,0,0:29,98,94,76:121,53,54,75:0,26,29,34:-,NM_004238.1(TRIP12) c.4471-14delT:-,NOT_FOUND:-,0.102109 2 230654479 . C . . NT END=230655839;NT GT ./. 2 230654682 rs1575468 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.4418-204A>G;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.4463-204A>G;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.3509-204A>G;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.4319-204A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:8:0:0:0:3,5:79,165:7.02,0.00:0.00,0.00:7.02,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:26.3,0.0:0,0:0,0:121,119:30,32:15,9:NM_004238.1(TRIP12) c.4319-204A>G,-:0.51,-:NOT_FOUND,- 2 230655733 rs722268 C T 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.4417+107G>A;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.4462+107G>A;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.3508+107G>A;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.4318+107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:T:18:17:0:0:18:567:65.27:61.80:3.48:1.00:1.00:1.00:60:37.4:0:0:50:100:38:NM_004238.1(TRIP12) c.4318+107G>A,NM_004238.1(TRIP12) c.4318+107G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 2 230655968 . C . . NT END=230656581;NT GT ./. 2 230656782 . C . . NT END=230656868;NT GT ./. 2 230656943 . C . . NT END=230657688;NT GT ./. 2 230656987 rs374041177 TA T 7 rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=217;Gene=TRIP12/NM_001284215.1/0;CC=c.4016-46delT;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.4061-46delT;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.3107-46delT;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.3917-46delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:TA,I,T:46:18:1:4:41,1,4:1247,31,109:0.00,1.53,7.02:0.00,-0.09,2.26:0.00,1.62,4.75:0.00,0.00,0.57:0.00,0.00,0.70:0.00,0.00,0.93:60,60,60:10.4,9.0,61.8:0,0,0:0,0,0:105,98,120:45,51,30:26,0,7:-,NM_004238.1(TRIP12) c.3917-46delT:-,NOT_FOUND:-,0.26278 2 230657496 rs4973228 G T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.4015+193C>A;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.4060+193C>A;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.3106+193C>A;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.3916+193C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:G,T:6:6:0:0:2,4:60,125:0.00,12.75:0.00,12.75:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:24.0,41.5:0,0:0,0:25,50:125,100:22,10:-,NM_004238.1(TRIP12) c.3916+193C>A:-,0.83:-,NOT_FOUND 2 230657862 . C . . NT END=230659894;NT GT ./. 2 230660047 . C . . NT END=230661306;NT GT ./. 2 230661499 . C . . NT END=230662405;NT GT ./. 2 230661661 rs72140752 AAC A 17 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=188;Gene=TRIP12/NM_001284215.1/0;CC=c.3499-165_3499-164delGT;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.3544-165_3544-164delGT;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.2590-165_2590-164delGT;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.3400-165_3400-164delGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:AAC,A:8:0:0:6:2,6:44,158:0.00,16.72:0.00,0.00:0.00,16.72:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.5,45.7:0,0:0,0:46,87:104,63:19,19:-,NM_004238.1(TRIP12) c.3400-165_3400-164delGT:-,NOT_FOUND:-,NOT_FOUND 2 230662548 . C . . NT END=230663590;NT GT ./. 2 230663443 rs6749045 A C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TRIP12/NM_001284215.1/0;CC=c.3356+148T>G;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.3401+148T>G;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.2447+148T>G;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.3257+148T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,C:16:16:0:0:11,5:337,144:0.00,12.46:0.00,12.46:0.00,0.00:0.00,0.88:0.00,0.88:0.00,0.00:60,60:5.9,75.2:0,0:0,0:56,30:95,118:28,20:-,NM_004238.1(TRIP12) c.3257+148T>G:-,0.31:-,NOT_FOUND 2 230663576 rs6720868 C T 116 nt VT=SNV;PN=A;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.3356+15G>A;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.3401+15G>A;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.2447+15G>A;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.3257+15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:74:0:0:44,38:1516,1220:0.00,115.53:0.00,91.31:0.00,24.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,39.1:1,0:0,0:52,43:95,105:22,29:-,NM_004238.1(TRIP12) c.3257+15G>A:-,0.33:-,0.372905 2 230663766 . C . . NT END=230663998;NT GT ./. 2 230664100 . C . . NT END=230666967;NT GT ./. 2 230666898 rs10432554 A G 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.3080+70T>C;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.3125+70T>C;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.2171+70T>C;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.2981+70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:21:0:0:11,11:322,374:0.00,36.05:0.00,30.93:0.00,5.11:0.00,1.00:0.00,1.00:0.00,0.96:60,60:18.3,48.2:0,0:0,0:32,28:119,122:21,16:-,NM_004238.1(TRIP12) c.2981+70T>C:-,0.33:-,NOT_FOUND 2 230667176 . C . . NT END=230668286;NT GT ./. 2 230668406 . C . . NT END=230668714;NT GT ./. 2 230668858 rs13018957 T C 64 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.2610A>G;ProtCh=p.T870=;VC=Silent;Gene=TRIP12/NM_001284214.1/1;CC=c.2655A>G;ProtCh=p.T885=;VC=Silent;Gene=TRIP12/NM_001284216.1/0;CC=c.1701A>G;ProtCh=p.T567=;VC=Silent;Gene=TRIP12/NM_004238.2/0;CC=c.2511A>G;ProtCh=p.T837=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:41:0:0:23,39:709,1265:64.08,0.00:28.62,0.00:35.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.4,4.9:0,0:0,0:71,76:79,75:38,39:NM_004238.1(TRIP12) c.2511A>G (p.(=)),-:0.38,-:0.390205,- 2 230668944 . C . . NT END=230670445;NT GT ./. 2 230668968 rs4972915 G A 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.2525-25C>T;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.2570-25C>T;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.1616-25C>T;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.2426-25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:15:0:0:18,20:571,612:54.28,0.00:14.69,0.00:39.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.7,3.8:0,0:0,0:91,101:44,37:40,23:NM_004238.1(TRIP12) c.2426-25C>T,-:0.83,-:0.815621,- 2 230668982 rs4973229 T G 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.2525-39A>C;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.2570-39A>C;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.1616-39A>C;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.2426-39A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:37:10:0:0:16,21:494,653:46.05,0.00:11.14,0.00:34.91,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:72.1,5.7:0,0:0,0:86,107:64,39:34,27:NM_004238.1(TRIP12) c.2426-39A>C,-:0.38,-:0.373619,- 2 230669169 rs78304308 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;PC=0.003;Gene=TRIP12/NM_001284215.1/0;CC=c.2525-226A>G;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.2570-226A>G;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.1616-226A>G;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.2426-226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:0:0:0:4,1:142,34:15.02,0.00:0.00,0.00:15.02,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:35.5,0.0:0,0:0,0:113,89:37,60:30,0:NM_004238.1(TRIP12) c.2426-226A>G,-:0.01,-:NOT_FOUND,- 2 230670600 . C . . NT END=230672420;NT GT ./. 2 230672581 . C . . NT END=230672967;NT GT ./. 2 230673086 . C . . NT END=230675595;NT GT ./. 2 230675762 . C . . NT END=230675851;NT GT ./. 2 230675921 . C . . NT END=230678585;NT GT ./. 2 230678748 . C . . NT END=230678948;NT GT ./. 2 230679042 . C . . NT END=230679814;NT GT ./. 2 230679911 . C . . NT END=230679988;NT GT ./. 2 230680025 . C . . NT END=230683079;NT GT ./. 2 230683229 . C . . NT END=230693908;NT GT ./. 2 230694005 . C . . NT END=230695471;NT GT ./. 2 230695556 . C . . NT END=230701563;NT GT ./. 2 230701701 . C . . NT END=230705537;NT GT ./. 2 230705516 rs398042985 TA T 43 idl,rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=665;PC=0.002;Gene=TRIP12/NM_001284215.1/0;CC=c.1007+21delT;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.1133+21delT;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.99-3817delT;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.1007+21delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:51:49:5:21:30,5,16:898,161,608:0.00,12.04,43.29:0.00,8.33,23.26:0.00,3.72,20.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.7,9.6,14.2:0,0,4:0,0,0:49,48,55:100,94,95:40,7,17:-,NM_004238.1(TRIP12) c.1007+21delT:-,NOT_FOUND:-,NOT_FOUND 2 230705644 . C . . NT END=230723487;NT GT ./. 2 230723777 rs544480 G C 233 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=NA;PC=1.000;Gene=TRIP12/NM_001284215.1/0;CC=c.612C>G;ProtCh=p.S204=;VC=Silent;Gene=TRIP12/NM_001284214.1/1;CC=c.738C>G;ProtCh=p.S246=;VC=Silent;Gene=TRIP12/NM_001284216.1/0;CC=c.98+20921C>G;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.612C>G;ProtCh=p.S204=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:163:117:0:0:78,84,1:2446,2670,11:233.09,0.00,-0.14:128.80,0.00,-0.05:104.29,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,8.0,47.0:0,0,0:0,0,0:84,80,144:66,66,6:43,30,0:NM_004238.1(TRIP12) c.612C>G (p.(=)),-:0.16,-:0.183223,- 2 230724291 . C . . NT END=230725121;NT GT ./. 2 230725248 . C . . NT END=230744697;NT GT ./. 2 230744570 rs479492 C T 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=TRIP12/NM_001284215.1/0;CC=c.98+128G>A;VC=Intron;Gene=TRIP12/NM_001284214.1/1;CC=c.98+128G>A;VC=Intron;Gene=TRIP12/NM_001284216.1/0;CC=c.98+128G>A;VC=Intron;Gene=TRIP12/NM_004238.2/0;CC=c.98+128G>A;VC=Intron;DM=TRIP12/HECT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:T:16:16:0:0:16:543:61.93:61.93:0.00:1.00:1.00:0.00:60:50.3:0:0:33:117:25:NM_004238.1(TRIP12) c.98+128G>A,NM_004238.1(TRIP12) c.98+128G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 2 230744796 . T . . NT END=230787229;NT GT ./. 2 230787061 rs12993164 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:20:20:0:0:12,1,7:390,5,213:0.00,-0.16,19.20:0.00,-0.16,19.20:0.00,0.00,0.00:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,0.00:60,60,60:11.9,74.0,45.9:0,0,0:0,0,0:51,64,37:99,87,114:27,0,27:-,NM_004238.1(TRIP12) c.-109-u406G>A:-,0.24:-,NOT_FOUND 2 230787326 . G . . NT END=230803855;NT GT ./. 2 230803985 . G . . NT END=230840956;NT GT ./. 2 230840735 rs77220873 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3;PC=0.865;Gene=FBXO36/NM_174899.4/1;CC=c.97-222T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:37:C,T:7:7:0:0:5,2:154,43:16.01,0.00:14.10,0.00:1.92,0.00:0.98,0.00:0.98,0.00:0.81,0.00:60,60:40.8,54.0:0,0:0,0:24,70:127,58:22,36:NM_174899.4(FBXO36) c.97-222T>C,-:0.01,-:NOT_FOUND,- 2 230841066 . G . . NT END=230861466;NT GT ./. 2 230841074 rs499449 C T 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=FBXO36/NM_174899.4/1;CC=c.205+9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:46:23:0:0:24,22:755,713:0.00,68.00:0.00,20.41:0.00,47.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,39.0:0,0:0,0:103,99:48,51:22,25:-,NM_174899.4(FBXO36) c.205+9C>T:-,0.26:-,0.2257 2 230861640 . G . . NT END=230875411;NT GT ./. 2 230875601 . G . . NT END=230902095;NT GT ./. 2 230902248 . C . . NT END=230910460;NT GT ./. 2 230902402 rs374831332 CT C 7 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.008;Gene=SLC16A14/NM_152527.4/1;CC=c.1382-156delA;VC=Intron;DM=SLC16A14/MFS_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:CT,T,I,C:25:0:1:3:20,1,1,3:664,24,30,94:0.00,1.14,1.73,6.96:0.00,0.00,0.00,0.00:0.00,1.14,1.73,6.96:0.00,0.00,0.00,0.46:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.46:60,60,60,60:10.7,33.0,0.0,45.3:0,0,0,0:0,0,0,0:93,94,3,98:57,57,147,53:31,0,0,3:-,NM_152527.4(SLC16A14) c.1382-156delA:-,NOT_FOUND:-,NOT_FOUND 2 230909440 . GTGTGTGTGTGTGTA G 7 nt VT=DEL;SST=Single;DP=4;NP=16;PC=0.005;Gene=SLC16A14/NM_152527.4/1;CC=c.1381+1007_1381+1020delTACACACACACACA;VC=Intron;DM=SLC16A14/MFS_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GTGTGTGTGTGTGTA,G:4:3:0:2:2,2:69,68:0.00,6.55:0.00,3.43:0.00,3.12:0.00,0.51:0.00,0.89:0.00,0.51:60,70:39.0,0.0:0,0:0,0:51,54:97,79:38,37:-,NM_152527.4(SLC16A14) c.1381+1007_1381+1020delTACACACACACACA:-,NOT_FOUND:-,NOT_FOUND 2 230911439 . C . . NT END=230914476;NT GT ./. 2 230911791 rs4973246 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=SLC16A14/NM_152527.4/1;CC=c.404-353A>G;VC=Intron;DM=SLC16A14/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:0:0:0:4,1:126,34:13.42,0.00:0.00,0.00:13.42,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:31.5,0.0:0,0:0,0:126,130:24,21:10,0:NM_152527.4(SLC16A14) c.404-353A>G,-:0.67,-:NOT_FOUND,- 2 230914361 rs4358112 G C 104 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.007;Gene=SLC16A14/NM_152527.4/1;CC=c.403+116C>G;VC=Intron;DM=SLC16A14/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:29:0:0:29:900:103.69:103.69:0.00:1.00:1.00:0.00:60:48.8:0:0:38:113:19:NM_152527.4(SLC16A14) c.403+116C>G,NM_152527.4(SLC16A14) c.403+116C>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 230914621 . C . . NT END=230923750;NT GT ./. 2 230914766 rs6748654 T C 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SLC16A14/NM_152527.4/1;CC=c.260-146A>G;VC=Intron;DM=SLC16A14/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,C:14:1:0:0:1,13:11,450:0.53,50.78:0.00,3.84:0.53,46.94:0.00,1.00:0.00,0.95:0.00,1.00:60,60:11.0,38.7:0,0:0,0:60,113:90,38:0,18:NM_152527.4(SLC16A14) c.260-146A>G,NM_152527.4(SLC16A14) c.260-146A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 2 230923576 rs6745505 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=SLC16A14/NM_152527.4/1;CC=c.259+234G>A;VC=Intron;DM=SLC16A14/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:22:0:0:14,9:430,289:0.00,26.49:0.00,26.71:0.00,-0.22:0.00,1.00:0.00,1.00:0.00,0.59:60,60:6.8,87.2:0,0:0,0:49,63:101,88:40,13:-,NM_152527.4(SLC16A14) c.259+234G>A:-,0.7:-,NOT_FOUND 2 230923648 rs9750739 C G 56 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.266;Gene=SLC16A14/NM_152527.4/1;CC=c.259+162G>C;VC=Intron;DM=SLC16A14/MFS_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:46:46:0:0:25,20,1:788,597,11:0.00,55.77,-0.00:0.00,56.14,0.01:0.00,-0.37,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.83,0.00:60,60,60:9.4,54.0,245.0:0,0,0:0,0,0:42,51,22:109,100,129:31,41,0:-,NM_152527.4(SLC16A14) c.259+162G>C:-,0.42:-,NOT_FOUND 2 230923800 . A . . NT END=230923809;NT GT ./. 2 230924069 . T . . NT END=231033839;NT GT ./. 2 230924258 rs56887438 G T 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SLC16A14/NM_152527.4/1;CC=c.-14-176C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:G,T:10:0:0:0:3,7:95,228:0.00,23.49:0.00,0.00:0.00,23.49:0.00,1.00:0.00,0.00:0.00,1.00:60,60:73.0,64.0:0,0:0,0:53,102:98,48:45,43:-,NM_152527.4(SLC16A14) c.-14-176C>A:-,0.42:-,NOT_FOUND 2 230924268 rs57699144 C T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SLC16A14/NM_152527.4/1;CC=c.-14-186G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:10:0:0:0:3,7:95,210:0.00,21.66:0.00,0.00:0.00,21.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.3,88.9:0,0:0,0:63,67:88,80:62,49:-,NM_152527.4(SLC16A14) c.-14-186G>A:-,0.42:-,NOT_FOUND 2 231033954 . C . . NT END=231035336;NT GT ./. 2 231035478 . C . . NT END=231036411;NT GT ./. 2 231036484 . C . . NT END=231036781;NT GT ./. 2 231036891 . C . . NT END=231037559;NT GT ./. 2 231037676 . C . . NT END=231041188;NT GT ./. 2 231037833 rs10498244 T C 28 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.007;Gene=SP110/NM_004509.3/0;CC=c.1591-158A>G;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.1591-158A>G;VC=Intron;DM=SP110/SAND;DM=SP110/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:C,T:11:0:0:0:9,2:259,69:27.92,0.00:0.00,0.00:27.92,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.2,0.0:0,0:0,0:117,109:34,41:26,25:NM_080424.2(SP110) c.1591-158A>G,-:0.22,-:NOT_FOUND,- 2 231041441 . C . . NT END=231042253;NT GT ./. 2 231042276 rs1135791 A G 118 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.1568T>C;ProtCh=p.M523T;VC=Missense;Gene=SP110/NM_080424.2/1;CC=c.1568T>C;ProtCh=p.M523T;VC=Missense;Gene=SP110/NM_004510.3/0;CC=c.1568T>C;ProtCh=p.M523T;VC=Missense;Gene=SP110/NM_001185015.1/0;CC=c.1586T>C;ProtCh=p.M529T;VC=Missense;DM=SP110/SAND;DM=SP110/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:98:76:0:0:55,42,1:1827,1272,12:0.00,118.27,-0.08:0.00,70.72,0.03:0.00,47.55,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.2,37.3,191.0:0,0,0:0,0,0:56,47,9:82,99,142:33,31,0:-,NM_080424.2(SP110) c.1568T>C (p.Met523Thr):-,0.34:-,0.4175 2 231042397 . C . . NT END=231042872;NT GT ./. 2 231042972 . C . . NT END=231048287;NT GT ./. 2 231043177 rs35552559 C CA 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=79;PC=0.001;Gene=SP110/NM_004509.3/0;CC=c.1349-207dupT;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.1349-207dupT;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.1349-207dupT;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.1367-207dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,CA:8:0:4:0:4,4:82,125:0.00,12.03:0.00,0.00:0.00,12.03:0.00,0.87:0.00,0.00:0.00,0.87:60,60:49.8,17.8:0,0:0,0:132,121:18,26:8,6:-,NM_080424.2(SP110) c.1349-207_1349-206insT:-,NOT_FOUND:-,NOT_FOUND 2 231048357 . C . . NT END=231050709;NT GT ./. 2 231050715 rs3948464 A G 268 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=75;DB;DBA=in-clinvar;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.1274T>C;ProtCh=p.L425S;VC=Missense;Gene=SP110/NM_080424.2/1;CC=c.1274T>C;ProtCh=p.L425S;VC=Missense;Gene=SP110/NM_004510.3/0;CC=c.1274T>C;ProtCh=p.L425S;VC=Missense;Gene=SP110/NM_001185015.1/0;CC=c.1292T>C;ProtCh=p.L431S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:68:0:0:75:2328:268.18:172.04:96.14:1.00:1.00:1.00:60:34.8:0:0:50:94:26:NM_080424.2(SP110) c.=,NM_080424.2(SP110) c.=:0.9,0.9:0.862679,0.862679 2 231050860 . C . . NT END=231065600;NT GT ./. 2 231065682 . C . . NT END=231067294;NT GT ./. 2 231067445 . C . . NT END=231072705;NT GT ./. 2 231072775 . C . . NT END=231074645;NT GT ./. 2 231074724 . C . . NT END=231076184;NT GT ./. 2 231076032 rs3769837 G T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.751+153C>A;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.751+153C>A;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.751+153C>A;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.769+153C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:197:22.56:22.56:0.00:1.00:1.00:0.00:60:32.8:0:0:33:117:14:NM_080424.2(SP110) c.751+153C>A,NM_080424.2(SP110) c.751+153C>A:0.79,0.79:NOT_FOUND,NOT_FOUND 2 231076269 . C . . NT END=231077061;NT GT ./. 2 231076887 rs58051262 G A 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SP110/NM_004509.3/0;CC=c.667+175C>T;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.667+175C>T;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.667+175C>T;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.685+175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G,T:10:10:0:0:6,3,1:158,99,10:16.08,0.00,0.42:16.08,0.00,0.42:0.00,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:0.00,0.00,0.00:60,60,60:28.3,24.7,116.0:0,0,0:0,0,0:71,69,33:79,82,117:38,34,0:NM_080424.2(SP110) c.667+175C>T,-:0.17,-:NOT_FOUND,- 2 231077146 . C . . NT END=231077475;NT GT ./. 2 231077268 rs41309094 C T 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.584-123G>A;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.584-123G>A;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.584-123G>A;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.602-123G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:6:0:0:12,13:344,392:0.00,37.88:0.00,10.24:0.00,27.64:0.00,1.00:0.00,0.98:0.00,1.00:60,60:12.8,66.5:0,0:0,0:106,69:40,82:35,41:-,NM_080424.2(SP110) c.584-123G>A:-,0.01:-,NOT_FOUND 2 231077360 rs6749386 A G 90 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.115;Gene=SP110/NM_004509.3/0;CC=c.583+116T>C;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.583+116T>C;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.583+116T>C;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.601+116T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:18:0:0:24:786:90.04:65.04:25.00:1.00:1.00:1.00:60:55.1:0:0:52:99:31:NM_080424.2(SP110) c.583+116T>C,NM_080424.2(SP110) c.583+116T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 2 231077725 rs1129411 A G 313 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.334T>C;ProtCh=p.W112R;VC=Missense;Gene=SP110/NM_080424.2/1;CC=c.334T>C;ProtCh=p.W112R;VC=Missense;Gene=SP110/NM_004510.3/0;CC=c.334T>C;ProtCh=p.W112R;VC=Missense;Gene=SP110/NM_001185015.1/0;CC=c.352T>C;ProtCh=p.W118R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:48:0:0:86:2725:313.17:120.75:192.43:1.00:1.00:1.00:60:39.8:0:0:85:64:28:NM_080424.2(SP110) c.=,NM_080424.2(SP110) c.=:0.94,0.94:0.914809,0.914809 2 231077743 . C . . NT END=231079664;NT GT ./. 2 231077868 rs7601176 A G 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.317-126T>C;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.317-126T>C;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.317-126T>C;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.335-126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:1:0:0:27:805:93.35:2.88:90.47:1.00:1.00:1.00:60:49.8:0:0:117:33:18:NM_080424.2(SP110) c.317-126T>C,NM_080424.2(SP110) c.317-126T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 231077911 rs7601190 A C 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.317-169T>G;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.317-169T>G;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.317-169T>G;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.335-169T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:418:48.41:0.00:48.41:1.00:0.00:1.00:60:71.9:0:0:111:40:26:NM_080424.2(SP110) c.317-169T>G,NM_080424.2(SP110) c.317-169T>G:0.77,0.77:NOT_FOUND,NOT_FOUND 2 231077994 rs7601299 A G 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SP110/NM_004509.3/0;CC=c.317-252T>C;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.317-252T>C;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.317-252T>C;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.335-252T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:194:22.26:0.00:22.26:1.00:0.00:1.00:60:76.5:0:0:97:50:12:NM_080424.2(SP110) c.317-252T>C,NM_080424.2(SP110) c.317-252T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 231079834 . C . . NT END=231081495;NT GT ./. 2 231081384 rs7580900 T C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.147+112A>G;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.147+112A>G;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.147+112A>G;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.165+112A>G;VC=Intron;DM=SP110/Sp100;DM=SP110/Sp100;DM=SP110/Sp100;DM=SP110/Sp100;DM=SP110/Sp100 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:23:0:0:13,11:421,387:41.11,0.00:34.53,0.00:6.58,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:71.9,7.2:0,0:0,0:26,64:125,87:17,34:NM_080424.2(SP110) c.147+112A>G,-:0.48,-:NOT_FOUND,- 2 231081405 rs7580912 T C 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=SP110/NM_004509.3/0;CC=c.147+91A>G;VC=Intron;Gene=SP110/NM_080424.2/1;CC=c.147+91A>G;VC=Intron;Gene=SP110/NM_004510.3/0;CC=c.147+91A>G;VC=Intron;Gene=SP110/NM_001185015.1/0;CC=c.165+91A>G;VC=Intron;DM=SP110/Sp100;DM=SP110/Sp100;DM=SP110/Sp100;DM=SP110/Sp100;DM=SP110/Sp100 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:25:0:0:15,11:463,374:45.74,0.00:33.87,0.00:11.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.6,7.2:0,0:0,0:38,85:113,66:18,34:NM_080424.2(SP110) c.147+91A>G,-:0.35,-:NOT_FOUND,- 2 231081644 . C . . NT END=231084588;NT GT ./. 2 231084828 . G . . NT END=231086419;NT GT ./. 2 231084902 rs7581442 G A 86 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=SP110/NM_001185015.1/0;CC=c.17+1518C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:9:0:0:27,23:882,682:86.11,0.00:6.53,0.00:79.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.5,13.6:0,0:0,0:103,110:48,41:25,27:NM_007237.4(SP140) c.-115-u5543G>A,-:0.44,-:NOT_FOUND,- 2 231086437 . C . . NT END=231090559;NT GT ./. 2 231090619 . G . . NT END=231101797;NT GT ./. 2 231101976 . G . . NT END=231102927;NT GT ./. 2 231103097 . G . . NT END=231103475;NT GT ./. 2 231103185 rs2278197 A G 74 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001005176.2/0;CC=c.406+89A>G;VC=Intron;Gene=SP140/NM_001278451.1/0;CC=c.406+89A>G;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.406+89A>G;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.406+89A>G;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.406+89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:A,G:22:3:0:0:1,21:10,657:0.00,74.16:0.00,6.26:0.00,67.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:95.0,36.9:0,0:0,0:117,122:34,29:0,19:NM_007237.4(SP140) c.406+89A>G,NM_007237.4(SP140) c.406+89A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 2 231103794 . G . . NT END=231106118;NT GT ./. 2 231106203 . G . . NT END=231108445;NT GT ./. 2 231106244 rs2288328 G C 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.135;Gene=SP140/NM_001278451.1/0;CC=c.490+42G>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.490+42G>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.490+42G>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.490+42G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,G:8:2:0:0:7,1:232,36:25.23,0.00:3.47,0.00:21.76,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:53.3,0.0:0,0:0,0:110,128:41,22:18,0:NM_007237.4(SP140) c.490+42G>C,-:0.33,-:0.327861,- 2 231108527 . G . . NT END=231109702;NT GT ./. 2 231109796 . G . . NT END=231110577;NT GT ./. 2 231110582 rs28445040 C T 30 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.669C>T;ProtCh=p.S223=;VC=Silent;Gene=SP140/NM_001278452.1/0;CC=c.664+787C>T;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.660C>T;ProtCh=p.S220=;VC=Silent;Gene=SP140/NM_007237.4/1;CC=c.669C>T;ProtCh=p.S223=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:19:0:0:17,11:558,327:0.00,29.77:0.00,20.43:0.00,9.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.4,45.9:0,0:0,0:50,104:95,47:21,30:-,NM_007237.4(SP140) c.669C>T (p.(=)):-,0.12:-,0.160013 2 231110656 . G . . NT END=231112630;NT GT ./. 2 231112781 . G . . NT END=231113599;NT GT ./. 2 231113405 rs1863677 T C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.893-195T>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.815-195T>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.734-195T>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.893-195T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:C,T:7:7:0:0:6,1:195,18:21.13,0.00:21.13,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.8,0.0:0,0:0,0:79,48:70,103:43,0:NM_007237.4(SP140) c.893-195T>C,-:0.25,-:NOT_FOUND,- 2 231113499 rs13426106 G A 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.893-101G>A;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.815-101G>A;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.734-101G>A;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.893-101G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:19:0:0:10,9:324,312:31.46,0.00:29.66,0.00:1.80,0.00:1.00,0.00:1.00,0.00:0.68,0.00:60,60:41.3,3.7:0,0:0,0:58,50:91,99:41,19:NM_007237.4(SP140) c.893-101G>A,-:0.11,-:NOT_FOUND,- 2 231113684 . G . . NT END=231115695;NT GT ./. 2 231113910 rs3813466 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.976+227T>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.898+227T>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.817+227T>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.976+227T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:202:23.53:0.00:23.53:1.00:0.00:1.00:60:49.0:0:0:64:87:10:NM_007237.4(SP140) c.976+227T>C,NM_007237.4(SP140) c.976+227T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 2 231113949 rs3813468 C G 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.976+266C>G;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.898+266C>G;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.817+266C>G;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.976+266C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:5:0:0:0:2,3:69,72:0.00,7.15:0.00,0.00:0.00,7.15:0.00,0.78:0.00,0.00:0.00,0.78:60,60:24.5,77.0:0,0:0,0:75,103:76,48:28,4:-,NM_007237.4(SP140) c.976+266C>G:-,0.23:-,NOT_FOUND 2 231115454 rs9989735 G C 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.977-242G>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.899-242G>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.817+1771G>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.977-242G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:C,G:12:11:0:0:5,7:150,200:13.84,0.00:14.07,0.00:-0.23,0.00:0.92,0.00:0.99,0.00:0.61,0.00:60,60:31.8,32.3:0,0:0,0:45,28:105,122:9,26:NM_007237.4(SP140) c.977-242G>C,-:0.11,-:NOT_FOUND,- 2 231115603 rs9989792 T C 72 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.977-93T>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.899-93T>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.817+1920T>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.977-93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:34:0:0:22,13:716,425:72.03,0.00:65.13,0.00:6.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.3,4.6:0,0:0,0:49,21:102,127:20,14:NM_007237.4(SP140) c.977-93T>C,-:0.25,-:NOT_FOUND,- 2 231115630 rs9989835 A T 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.977-66A>T;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.899-66A>T;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.817+1947A>T;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.977-66A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:42:38:0:0:18,24:594,846:0.00,83.59:0.00,70.56:0.00,13.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,67.2:0,0:0,0:42,68:108,81:21,24:-,NM_007237.4(SP140) c.977-66A>T:-,0.12:-,NOT_FOUND 2 231115777 . G . . NT END=231118030;NT GT ./. 2 231115790 rs9989746 G A 89 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1057+14G>A;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.979+14G>A;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.817+2107G>A;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1057+14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:27:0:0:27,31:935,1001:89.00,0.00:24.61,0.00:64.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,16.3:0,0:0,0:94,95:54,53:38,37:NM_007237.4(SP140) c.1057+14G>A,-:0.1,-:0.140256,- 2 231115976 rs13385151 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1057+200C>T;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.979+200C>T;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.817+2293C>T;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1057+200C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,T:8:0:0:0:4,4:116,133:0.00,12.80:0.00,0.00:0.00,12.80:0.00,0.87:0.00,0.00:0.00,0.87:60,60:0.0,42.8:0,0:0,0:79,127:71,22:54,8:-,NM_007237.4(SP140) c.1057+200C>T:-,0.11:-,NOT_FOUND 2 231118133 . G . . NT END=231120166;NT GT ./. 2 231118186 rs3769840 G A 37 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1159+54G>A;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.980-1981G>A;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.818-1981G>A;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1159+54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:24:1:0:0:13,1,10:381,17,323:37.46,0.67,0.00:1.86,0.00,0.00:35.61,0.67,0.00:1.00,0.00,0.00:0.69,0.00,0.00:1.00,0.00,0.00:60,60,60:35.2,57.0,7.3:0,0,0:0,0,0:117,103,71:27,48,80:24,0,29:NM_007237.4(SP140) c.1159+54G>A,-:0.23,-:NOT_FOUND,- 2 231119914 rs28693552 G C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1159+1782G>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.980-253G>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.818-253G>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1160-253G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,G:6:6:0:0:4,2:101,67:10.33,0.00:10.33,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:33.0,0.0:0,0:0,0:29,89:121,62:20,52:NM_007237.4(SP140) c.1160-253G>C,-:0.11,-:NOT_FOUND,- 2 231120248 . G . . NT END=231134246;NT GT ./. 2 231120255 rs55829350 CG C 187 rn VT=DEL;SST=Single;DP=70;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1891;Gene=SP140/NM_001278451.1/0;CC=c.1159+2133delG;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1060+18delG;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.898+18delG;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1240+18delG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,C:70:36:0:58:13,57:395,1748:0.00,187.40:0.00,53.81:0.00,133.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.0,8.8:0,0:0,0:140,96:7,50:6,23:-,NM_007237.4(SP140) c.1240+9delG:-,NOT_FOUND:-,NOT_FOUND 2 231120256 rs200772144 G C 18 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1159+2124G>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1060+9G>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.898+9G>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1240+9G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:13:7:0:60:6,7:188,206:17.77,0.00:9.45,0.00:8.32,0.00:0.97,0.00:0.98,0.00:0.99,0.00:60,60:38.0,38.9:0,0:0,0:136,141:3,6:10,4:NM_007237.4(SP140) c.1240+9G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 231120257 rs201513131 G C 67 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=2;NP=292;Gene=SP140/NM_001278451.1/0;CC=c.1159+2125G>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1060+10G>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.898+10G>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1240+10G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:68:30:0:0:27,41:744,1264:67.24,0.00:13.39,0.00:53.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:4.4,21.2:0,1:0,0:92,111:59,27:27,22:NM_007237.4(SP140) c.1240+10G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 231134078 rs66745970 AGCGTG A 24 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=373;PC=0.001;Gene=SP140/NM_001278451.1/0;CC=c.1160-166_1160-162delGTGGC;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1061-166_1061-162delGTGGC;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.899-166_899-162delGTGGC;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1241-166_1241-162delGTGGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:AGCGTG,C,A:11:11:0:8:2,1,8:50,8,222:0.00,0.29,23.77:0.00,0.29,23.77:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,70:5.0,90.0,28.2:0,0,0:0,0,0:134,126,42:17,25,108:13,0,21:-,NM_007237.4(SP140) c.1241-168_1241-164delGCGTG:-,0.13:-,NOT_FOUND 2 231134334 . G . . NT END=231134551;NT GT ./. 2 231134669 . G . . NT END=231135300;NT GT ./. 2 231134866 rs543002785 T C 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2;Gene=SP140/NM_001278451.1/0;CC=c.1363+198T>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1264+198T>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1102+198T>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1444+198T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:8:0:0:0:4,4:96,118:9.07,0.00:0.00,0.00:9.07,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:49.0,22.0:0,0:0,0:103,94:48,56:23,13:NM_007237.4(SP140) c.1444+198T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 231135355 . G . . NT END=231149060;NT GT ./. 2 231149108 rs4972946 G A 191 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1465G>A;ProtCh=p.E489K;VC=Missense;Gene=SP140/NM_001278452.1/0;CC=c.1366G>A;ProtCh=p.E456K;VC=Missense;Gene=SP140/NM_001278453.1/0;CC=c.1204G>A;ProtCh=p.E402K;VC=Missense;Gene=SP140/NM_007237.4/1;CC=c.1546G>A;ProtCh=p.E516K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A:51:38:0:0:51:1671:191.41:97.25:94.16:1.00:1.00:1.00:60:40.4:0:0:88:61:24:NM_007237.4(SP140) c.1546G>A (p.Glu516Lys),NM_007237.4(SP140) c.1546G>A (p.Glu516Lys):0.96,0.96:0.940399,0.940399 2 231149127 . G . . NT END=231150466;NT GT ./. 2 231150548 . G . . NT END=231152606;NT GT ./. 2 231152682 . G . . NT END=231155174;NT GT ./. 2 231155280 . G . . NT END=231157360;NT GT ./. 2 231155413 rs3820976 T A 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1744+134T>A;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1645+134T>A;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1483+134T>A;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1825+134T>A;VC=Intron;DM=SP140/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,T:11:0:0:0:3,8:96,258:8.23,0.00:0.00,0.00:8.23,0.00:0.60,0.00:0.00,0.00:0.60,0.00:60,60:32.0,5.8:0,0:0,0:83,68:68,82:41,9:NM_007237.4(SP140) c.1825+134T>A,-:0.18,-:NOT_FOUND,- 2 231157271 rs7602027 T C 81 nt VT=SNV;PN=T;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SP140/NM_001278451.1/0;CC=c.1745-90T>C;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1646-90T>C;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1484-90T>C;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1826-90T>C;VC=Intron;DM=SP140/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:55:51:0:0:1,26,1,27:24,850,12,825:0.95,81.44,0.04,0.00:0.98,75.03,0.07,0.00:-0.03,6.42,-0.03,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,0.99,0.00,0.00:60,60,60,60:90.0,38.0,85.0,9.3:0,0,0,0:0,0,0,0:121,54,139,49:30,97,11,102:0,30,0,31:NM_007237.4(SP140) c.1826-90T>C,-:0.19,-:NOT_FOUND,- 2 231157504 . G . . NT END=231158985;NT GT ./. 2 231157512 rs6710297 A G 194 nt VT=SNV;PN=A;NN=T;SST=Single;DP=119;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1887+9A>G;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1788+9A>G;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1626+9A>G;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1968+9A>G;VC=Intron;DM=SP140/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:119:61:0:0:60,59:1948,2021:0.00,194.44:0.00,56.28:0.00,138.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.9,66.0:0,0:0,0:102,99:43,39:26,24:-,NM_007237.4(SP140) c.1968+9A>G:-,0.14:-,0.210453 2 231157527 rs6739193 G A 357 nt VT=SNV;PN=G;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1887+24G>A;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1788+24G>A;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1626+24G>A;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.1968+24G>A;VC=Intron;DM=SP140/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:98:48:0:0:98:3104:357.02:103.71:253.31:1.00:1.00:1.00:60:53.6:0:0:108:33:18:NM_007237.4(SP140) c.1968+24G>A,NM_007237.4(SP140) c.1968+24G>A:0.74,0.74:0.846989,0.846989 2 231159034 . G . . NT END=231162135;NT GT ./. 2 231162178 . G . . NT END=231174638;NT GT ./. 2 231162341 rs13405136 G T 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1977+164G>T;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1878+164G>T;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1716+164G>T;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.2058+164G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:19:0:0:0:10,9:297,298:0.00,28.42:0.00,0.00:0.00,28.42:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.3,42.3:0,0:0,0:75,99:75,51:28,28:-,NM_007237.4(SP140) c.2058+164G>T:-,0.46:-,NOT_FOUND 2 231162465 rs542029587 A G 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=6;Gene=SP140/NM_001278451.1/0;CC=c.1977+288A>G;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1878+288A>G;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1716+288A>G;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.2058+288A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,C,G:7:0:0:0:3,1,3:73,9,92:0.00,0.39,8.81:0.00,0.00,0.00:0.00,0.39,8.81:0.00,0.00,0.69:0.00,0.00,0.00:0.00,0.00,0.69:60,60,60:32.7,28.0,35.3:0,0,0:0,0,0:126,91,62:24,55,88:16,0,21:-,NM_007237.4(SP140) c.2058+288A>G:-,NOT_FOUND:-,NOT_FOUND 2 231174420 rs6707578 G A 36 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.1978-219G>A;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.1879-219G>A;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1717-219G>A;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.2059-219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:310:35.73:35.73:0.00:1.00:1.00:0.00:60:33.5:0:0:76:74:18:NM_007237.4(SP140) c.2059-219G>A,NM_007237.4(SP140) c.2059-219G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 2 231174755 . G . . NT END=231175457;NT GT ./. 2 231175549 rs62192163 T C 79 lc VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=566;Gene=SP140/NM_001278451.1/0;CC=c.2185T>C;ProtCh=p.C729R;VC=Missense;Gene=SP140/NM_001278452.1/0;CC=c.2086T>C;ProtCh=p.C696R;VC=Missense;Gene=SP140/NM_001278453.1/0;CC=c.1924T>C;ProtCh=p.C642R;VC=Missense;Gene=SP140/NM_007237.4/1;CC=c.2266T>C;ProtCh=p.C756R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:26:5:0:0:26:672:79.16:19.68:59.47:1.00:1.00:1.00:40:54.4:0:0:106:44:25:NM_007237.4(SP140) c.2266T>C (p.Cys756Arg),NM_007237.4(SP140) c.2266T>C (p.Cys756Arg):0.13,0.13:0.19456,0.19456 2 231175567 . G . . NT END=231175868;NT GT ./. 2 231175763 rs66642167 G A 179 nt VT=SNV;PN=T;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=SP140/NM_001278451.1/0;CC=c.2203-106G>A;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.2104-106G>A;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.1942-106G>A;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.2284-106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A,G:55:45:0:0:54,1:1555,9:179.32,0.00:139.49,0.00:39.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,51:48.4,92.0:0,0:0,0:61,38:89,113:35,0:NM_007237.4(SP140) c.2284-106G>A,NM_007237.4(SP140) c.2284-106G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 2 231175947 . G . . NT END=231176166;NT GT ./. 2 231176311 . G . . NT END=231177300;NT GT ./. 2 231177200 rs397694261 CTT C 62 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=740;Gene=SP140/NM_001278451.1/0;CC=c.2425-92_2425-91delTT;VC=Intron;Gene=SP140/NM_001278452.1/0;CC=c.2326-92_2326-91delTT;VC=Intron;Gene=SP140/NM_001278453.1/0;CC=c.2164-92_2164-91delTT;VC=Intron;Gene=SP140/NM_007237.4/1;CC=c.2506-92_2506-91delTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:CTT,C:19:19:0:18:1,18:34,554:0.00,62.27:0.00,62.27:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,11.8:0,0:0,0:54,42:97,108:0,27:NM_007237.4(SP140) c.2506-100_2506-99delTT,NM_007237.4(SP140) c.2506-100_2506-99delTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 231177400 . C . . NT END=231191984;NT GT ./. 2 231192017 . G . . NT END=231222519;NT GT ./. 2 231222683 . G . . NT END=231223678;NT GT ./. 2 231223848 . G . . NT END=231226328;NT GT ./. 2 231226413 . G . . NT END=231235622;NT GT ./. 2 231235683 . G . . NT END=231236312;NT GT ./. 2 231235886 rs11689260 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.583+204C>T;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.508+204C>T;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.508+204C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:12:1:0:0:6,6:151,200:0.00,19.31:0.00,3.58:0.00,15.74:0.00,0.98:0.00,0.67:0.00,1.00:60,60:31.0,41.5:0,0:0,0:84,107:58,43:33,24:-,NM_138402.4(SP140L) c.583+204C>T:-,0.46:-,NOT_FOUND 2 231236367 . G . . NT END=231248224;NT GT ./. 2 231246452 rs62192207 C T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=200;PC=0.032;Gene=SP140L/NM_138402.4/1;CC=c.638-1773C>T;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.563-1773C>T;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.563-1773C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:5:3:0:0:1,4:36,126:0.00,13.42:0.00,11.04:0.00,2.38:0.00,0.96:0.00,0.99:0.00,0.97:60,60:0.0,61.8:0,0:0,0:25,99:118,52:0,12:-,NM_138402.4(SP140L) c.638-1773C>T:-,NOT_FOUND:-,NOT_FOUND 2 231248261 rs28497362 C T 111 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.674C>T;ProtCh=p.T225M;VC=Missense;Gene=SP140L/NM_001308162.1/0;CC=c.599C>T;ProtCh=p.T200M;VC=Missense;Gene=SP140L/NM_001308163.1/0;CC=c.599C>T;ProtCh=p.T200M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:44:0:0:26,36:805,1123:0.00,111.17:0.00,55.82:0.00,55.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,34.5:0,0:0,0:95,62:36,87:23,22:-,NM_138402.4(SP140L) c.674C>T (p.Thr225Met):-,0.16:-,0.152138 2 231248291 . G . . NT END=231249938;NT GT ./. 2 231250020 . G . . NT END=231253273;NT GT ./. 2 231253349 . G . . NT END=231254633;NT GT ./. 2 231253434 rs7586155 T G 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.859+86T>G;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.784+86T>G;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.784+86T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:2:0:0:11,12:346,383:32.92,0.00:-0.28,0.00:33.20,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:45.4,5.6:0,0:0,0:110,100:41,50:28,29:NM_138402.4(SP140L) c.859+86T>G,-:0.17,-:NOT_FOUND,- 2 231254438 rs725201 T G 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.003;Gene=SP140L/NM_138402.4/1;CC=c.860-196T>G;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.785-196T>G;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.784+1090T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:457:52.33:52.33:0.00:1.00:1.00:0.00:60:43.1:0:0:75:75:27:NM_138402.4(SP140L) c.860-196T>G,NM_138402.4(SP140L) c.860-196T>G:0.37,0.37:NOT_FOUND,NOT_FOUND 2 231254570 rs12694859 C T 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.860-64C>T;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.785-64C>T;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.784+1222C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:27:0:0:15,14:437,463:0.00,44.27:0.00,35.46:0.00,8.81:0.00,1.00:0.00,1.00:0.00,0.93:60,60:9.2,37.1:0,0:0,0:59,46:92,105:31,35:-,NM_138402.4(SP140L) c.860-64C>T:-,0.17:-,NOT_FOUND 2 231254739 . G . . NT END=231256801;NT GT ./. 2 231256755 rs10184953 C T 117 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.965-47C>T;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.890-47C>T;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.785-47C>T;VC=Intron;DM=SP140L/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:87:75:0:0:1,45,41:11,1437,1234:-0.08,0.00,117.05:-0.04,0.00,79.58:-0.04,0.00,37.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:220.0,5.2,34.2:0,0,0:0,0,0:13,51,55:137,89,93:0,33,29:-,NM_138402.4(SP140L) c.965-47C>T:-,0.18:-,0.236263 2 231256945 . G . . NT END=231258128;NT GT ./. 2 231258150 rs7590429 C T 66 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.081;Gene=SP140L/NM_138402.4/1;CC=c.1129C>T;ProtCh=p.P377S;VC=Missense;Gene=SP140L/NM_001308162.1/0;CC=c.1054C>T;ProtCh=p.P352S;VC=Missense;Gene=SP140L/NM_001308163.1/0;CC=c.949C>T;ProtCh=p.P317S;VC=Missense;DM=SP140L/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:13:0:0:18:576:66.15:25.20:40.95:1.00:1.00:1.00:60:45.7:0:0:72:62:36:NM_138402.4(SP140L) c.1129C>T (p.Pro377Ser),NM_138402.4(SP140L) c.1129C>T (p.Pro377Ser):0.37,0.37:0.440362,0.440362 2 231258177 . G . . NT END=231261471;NT GT ./. 2 231261254 rs6747181 T G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.1156-218T>G;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.1081-218T>G;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.976-218T>G;VC=Intron;DM=SP140L/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:G,T:7:7:0:0:4,3:119,103:11.73,0.00:11.73,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:46.8,11.3:0,0:0,0:111,65:38,86:21,22:NM_138402.4(SP140L) c.1156-218T>G,-:0.19,-:NOT_FOUND,- 2 231261514 . G . . NT END=231264841;NT GT ./. 2 231264958 . G . . NT END=231265669;NT GT ./. 2 231265430 rs3731728 T G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.1314-240T>G;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.1239-240T>G;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.1134-240T>G;VC=Intron;DM=SP140L/PHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:G,T:12:11:0:0:5,7:170,202:15.86,0.00:12.26,0.00:3.60,0.00:0.92,0.00:0.99,0.00:0.61,0.00:60,60:68.0,13.4:0,0:0,0:91,20:60,131:24,20:NM_138402.4(SP140L) c.1314-240T>G,-:0.16,-:NOT_FOUND,- 2 231265443 rs3731729 C T 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=SP140L/NM_138402.4/1;CC=c.1314-227C>T;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.1239-227C>T;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.1134-227C>T;VC=Intron;DM=SP140L/PHD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:14:0:0:8,7:271,226:0.00,21.44:0.00,17.89:0.00,3.55:0.00,0.99:0.00,1.00:0.00,0.64:60,60:11.8,58.1:0,0:0,0:25,98:125,53:12,30:-,NM_138402.4(SP140L) c.1314-227C>T:-,0.16:-,NOT_FOUND 2 231265779 . G . . NT END=231266080;NT GT ./. 2 231266159 . G . . NT END=231266378;NT GT ./. 2 231266272 rs115108138 A G 52 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1020;Gene=SP140L/NM_138402.4/1;CC=c.1501-107A>G;VC=Intron;Gene=SP140L/NM_001308162.1/0;CC=c.1426-107A>G;VC=Intron;Gene=SP140L/NM_001308163.1/0;CC=c.1321-107A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:2:0:0:14:457:52.38:6.75:45.62:1.00:1.00:1.00:40:36.8:0:0:77:73:53:NM_138402.4(SP140L) c.1501-107A>G,NM_138402.4(SP140L) c.1501-107A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 231266523 . G . . NT END=231267512;NT GT ./. 2 231267612 . C . . NT END=231281011;NT GT ./. 2 231281044 . G . . NT END=231281470;NT GT ./. 2 231281597 . G . . NT END=231307651;NT GT ./. 2 231307815 . G . . NT END=231308892;NT GT ./. 2 231309062 . G . . NT END=231311533;NT GT ./. 2 231311618 . G . . NT END=231313802;NT GT ./. 2 231313866 . G . . NT END=231314275;NT GT ./. 2 231314426 . G . . NT END=231314886;NT GT ./. 2 231314971 . G . . NT END=231325976;NT GT ./. 2 231325732 rs577875109 A AT 40 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=282;PC=0.855;Gene=SP100/NM_001206702.1/0;CC=c.821-237_821-236insT;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.746-237_746-236insT;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.821-237_821-236insT;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.821-237_821-236insT;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.821-237_821-236insT;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.716-237_716-236insT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:AT:11:11:11:0:11:345:39.74:39.74:0.00:1.00:1.00:0.00:60:10.1:0:0:40:111:19:NM_001080391.1(SP100) c.821-245_821-244insT,NM_001080391.1(SP100) c.821-245_821-244insT:0.99,0.99:NOT_FOUND,NOT_FOUND 2 231326130 . G . . NT END=231327149;NT GT ./. 2 231327234 . G . . NT END=231328781;NT GT ./. 2 231327291 rs1649863 A G 63 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1057+58A>G;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.982+58A>G;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1057+58A>G;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1057+58A>G;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1057+58A>G;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.952+58A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:10:0:0:24,21:746,662:0.00,62.72:0.00,7.16:0.00,55.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,45.6:0,0:0,0:108,109:40,40:20,25:-,NM_001080391.1(SP100) c.1057+58A>G:-,0.22:-,0.254928 2 231327430 rs17333468 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1057+197G>A;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.982+197G>A;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1057+197G>A;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1057+197G>A;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1057+197G>A;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.952+197G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:A,G:8:0:0:0:4,4:103,126:9.75,0.00:0.00,0.00:9.75,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:33.5,8.0:0,0:0,0:120,84:29,67:17,26:NM_001080391.1(SP100) c.1057+197G>A,-:0.18,-:NOT_FOUND,- 2 231328426 rs1678201 G C 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1058-356G>C;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.983-356G>C;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1058-356G>C;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1058-356G>C;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1058-356G>C;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.953-356G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:55:C,G:4:4:0:0:2,2:69,56:6.65,0.00:6.65,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:51.5,40.5:0,0:0,0:54,12:96,138:43,7:NM_001080391.1(SP100) c.1058-356G>C,-:0.19,-:NOT_FOUND,- 2 231328696 rs2306274 C T 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1058-86C>T;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.983-86C>T;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1058-86C>T;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1058-86C>T;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1058-86C>T;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.953-86C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:C,T:22:22:0:0:17,5:552,168:0.00,14.07:0.00,14.23:0.00,-0.17:0.00,0.84:0.00,0.84:0.00,0.58:60,60:3.1,107.0:0,0:0,0:58,26:92,124:32,14:-,NM_001080391.1(SP100) c.1058-86C>T:-,0.3:-,NOT_FOUND 2 231328720 rs2306275 C T 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1058-62C>T;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.983-62C>T;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1058-62C>T;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1058-62C>T;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1058-62C>T;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.953-62C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:26:0:0:19,9:622,309:0.00,27.56:0.00,23.31:0.00,4.25:0.00,0.99:0.00,1.00:0.00,0.98:60,60:3.2,88.7:0,0:0,0:37,24:113,126:27,19:-,NM_001080391.1(SP100) c.1058-62C>T:-,0.09:-,NOT_FOUND 2 231328728 rs2306276 C T 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1058-54C>T;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.983-54C>T;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1058-54C>T;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1058-54C>T;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1058-54C>T;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.953-54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:32:29:0:0:20,1,11:661,10,367:0.00,-0.02,33.19:0.00,0.07,27.55:0.00,-0.09,5.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:6.8,10.0,77.7:0,0,0:0,0,0:49,72,21:100,76,123:33,0,13:-,NM_001080391.1(SP100) c.1058-54C>T:-,0.19:-,0.265878 2 231328866 . G . . NT END=231331015;NT GT ./. 2 231330899 rs371966938 C CAAAA 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;Gene=SP100/NM_001206702.1/0;CC=c.1142-98_1142-97insAAAA;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1067-98_1067-97insAAAA;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1142-98_1142-97insAAAA;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1142-98_1142-97insAAAA;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1142-98_1142-97insAAAA;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1037-98_1037-97insAAAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CAAAA:4:5:4:0:1,3:35,130:0.00,10.17:0.00,10.17:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,70:34.0,42.3:0,1:0,0:119,66:20,79:0,1:-,NM_001080391.1(SP100) c.1142-117_1142-116insAAAA:-,NOT_FOUND:-,NOT_FOUND 2 231331070 . G . . NT END=231331834;NT GT ./. 2 231331694 rs1678159 A G 42 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SP100/NM_001206702.1/0;CC=c.1196-141A>G;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1121-141A>G;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1196-141A>G;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1196-141A>G;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1196-141A>G;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1091-141A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:365:42.21:42.21:0.00:1.00:1.00:0.00:60:64.2:0:0:37:113:17:NM_001080391.1(SP100) c.1196-141A>G,NM_001080391.1(SP100) c.1196-141A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 231331701 rs397729998 A AG 43 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2640;Gene=SP100/NM_001206702.1/0;CC=c.1196-132dupG;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1121-132dupG;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1196-132dupG;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1196-132dupG;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1196-132dupG;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1091-132dupG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:AG:12:12:12:0:12:373:43.02:43.02:0.00:1.00:1.00:0.00:60:64.2:0:0:44:106:17:NM_001080391.1(SP100) c.1196-134_1196-133insG,NM_001080391.1(SP100) c.1196-134_1196-133insG:0.64,0.64:NOT_FOUND,NOT_FOUND 2 231331706 rs2303609 C T 18 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1196-129C>T;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1121-129C>T;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1196-129C>T;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1196-129C>T;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1196-129C>T;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1091-129C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:15:15:0:0:9,6:296,192:0.00,17.68:0.00,17.68:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:38.4,92.3:7,5:0,0:61,39:90,110:37,11:-,NM_001080391.1(SP100) c.1196-129C>T:-,NOT_FOUND:-,NOT_FOUND 2 231331799 rs1649869 T C 146 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.222;Gene=SP100/NM_001206702.1/0;CC=c.1196-36T>C;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1121-36T>C;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1196-36T>C;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1196-36T>C;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1196-36T>C;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1091-36T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:33:0:0:38:1276:145.72:106.40:39.32:1.00:1.00:1.00:60:62.0:0:0:50:97:40:NM_001080391.1(SP100) c.1196-36T>C,NM_001080391.1(SP100) c.1196-36T>C:0.64,0.64:0.715055,0.715055 2 231331896 rs1050224 G A 163 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1257G>A;ProtCh=p.S419=;VC=Silent;Gene=SP100/NM_001206703.1/0;CC=c.1182G>A;ProtCh=p.S394=;VC=Silent;Gene=SP100/NM_001206701.1/0;CC=c.1257G>A;ProtCh=p.S419=;VC=Silent;Gene=SP100/NM_003113.3/0;CC=c.1257G>A;ProtCh=p.S419=;VC=Silent;Gene=SP100/NM_001080391.1/1;CC=c.1257G>A;ProtCh=p.S419=;VC=Silent;Gene=SP100/NM_001206704.1/0;CC=c.1152G>A;ProtCh=p.S384=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:A:43:30:0:0:43:1421:162.53:75.80:86.73:1.00:1.00:1.00:60:52.8:0:0:82:58:24:NM_001080391.1(SP100) c.1257G>A (p.(=)),NM_001080391.1(SP100) c.1257G>A (p.(=)):0.64,0.64:0.712133,0.712133 2 231331931 . G . . NT END=231333757;NT GT ./. 2 231333763 rs12724 A G 30 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1297A>G;ProtCh=p.M433V;VC=Missense;Gene=SP100/NM_001206703.1/0;CC=c.1213A>G;ProtCh=p.M405V;VC=Missense;Gene=SP100/NM_001206701.1/0;CC=c.1297A>G;ProtCh=p.M433V;VC=Missense;Gene=SP100/NM_003113.3/0;CC=c.1297A>G;ProtCh=p.M433V;VC=Missense;Gene=SP100/NM_001080391.1/1;CC=c.1297A>G;ProtCh=p.M433V;VC=Missense;Gene=SP100/NM_001206704.1/0;CC=c.1192A>G;ProtCh=p.M398V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:21:0:0:22,11:707,339:0.00,30.01:0.00,15.30:0.00,14.71:0.00,1.00:0.00,0.97:0.00,1.00:60,60:6.9,77.8:0,0:0,0:82,52:64,75:23,31:-,NM_001080391.1(SP100) c.1297A>G (p.Met433Val):-,0.18:-,0.246386 2 231333812 . G . . NT END=231334729;NT GT ./. 2 231333834 rs1649873 G A 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.128;Gene=SP100/NM_001206702.1/0;CC=c.1345+23G>A;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1261+23G>A;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1345+23G>A;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1345+23G>A;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1345+23G>A;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1240+23G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:9:0:0:9,14:255,431:23.08,0.00:8.64,0.00:14.44,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:99.3,10.6:0,0:0,0:98,109:52,41:21,26:NM_001080391.1(SP100) c.1345+23G>A,-:0.18,-:0.25,- 2 231333852 rs1649874 A C 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1345+41A>C;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1261+41A>C;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1345+41A>C;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1345+41A>C;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1345+41A>C;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1240+41A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:17:8:0:0:10,7:321,221:0.00,20.43:0.00,4.09:0.00,16.34:0.00,0.98:0.00,0.98:0.00,0.99:60,60:14.9,109.9:0,0:0,0:105,114:44,37:16,23:-,NM_001080391.1(SP100) c.1345+41A>C:-,0.18:-,0.249769 2 231333890 rs1649875 C T 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1345+79C>T;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1261+79C>T;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1345+79C>T;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1345+79C>T;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1345+79C>T;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1240+79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,G,T:10:4:0:0:6,1,3:199,11,81:0.00,0.37,7.03:0.00,-0.14,0.96:0.00,0.50,6.07:0.00,0.00,0.62:0.00,0.00,0.76:0.00,0.00,0.89:60,60,60:17.7,169.0,81.0:0,0,0:0,0,0:127,133,98:24,18,53:14,0,8:-,NM_001080391.1(SP100) c.1345+79C>T:-,0.18:-,NOT_FOUND 2 231334421 rs1051581 A C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1346-309A>C;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1262-309A>C;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1346-309A>C;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1346-309A>C;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1346-309A>C;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1241-309A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:A,C:6:6:0:0:2,4:54,89:0.00,9.12:0.00,9.12:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:60.5,66.5:0,0:0,0:25,23:123,125:11,4:-,NM_001080391.1(SP100) c.1346-309A>C:-,0.18:-,NOT_FOUND 2 231334504 rs369389783 AAAAG A 14 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=103;PC=0.186;Gene=SP100/NM_001206702.1/0;CC=c.1346-223_1346-220delAGAA;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1262-223_1262-220delAGAA;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1346-223_1346-220delAGAA;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1346-223_1346-220delAGAA;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1346-223_1346-220delAGAA;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1241-223_1241-220delAGAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:AAAAG,A:8:8:0:6:3,5:78,141:0.00,14.20:0.00,14.20:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:51.7,49.2:0,0:0,0:97,98:54,53:23,16:-,NM_001080391.1(SP100) c.1346-225_1346-222delAAAG:-,0.18:-,NOT_FOUND 2 231334613 rs13413034 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1346-117G>A;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1262-117G>A;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1346-117G>A;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1346-117G>A;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1346-117G>A;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1241-117G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:A,G:14:14:0:0:4,10:133,311:11.57,0.00:11.57,0.00:0.00,0.00:0.77,0.00:0.77,0.00:0.00,0.00:60,60:34.8,56.6:0,0:0,0:30,80:120,70:22,20:NM_001080391.1(SP100) c.1346-117G>A,-:0.05,-:NOT_FOUND,- 2 231334679 rs1678162 A G 43 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206702.1/0;CC=c.1346-51A>G;VC=Intron;Gene=SP100/NM_001206703.1/0;CC=c.1262-51A>G;VC=Intron;Gene=SP100/NM_001206701.1/0;CC=c.1346-51A>G;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1346-51A>G;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1346-51A>G;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.1241-51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:32:27:0:0:16,15,1:524,455,10:0.00,43.29,0.04:0.00,33.83,0.09:0.00,9.46,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.2,49.1,166.0:0,0,0:0,0,0:37,50,105:114,100,46:15,42,0:-,NM_001080391.1(SP100) c.1346-51A>G:-,0.18:-,0.251539 2 231335159 rs7878 A G 47 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.003;Gene=SP100/NM_001206702.1/0;CC=c.*332A>G;VC=3UTR;Gene=SP100/NM_001206703.1/0;CC=c.*332A>G;VC=3UTR;Gene=SP100/NM_001206701.1/0;CC=c.1429+346A>G;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1429+346A>G;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1429+346A>G;VC=Intron;Gene=SP100/NM_001206704.1/0;CC=c.*332A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:17:0:0:23,16:764,513:0.00,47.41:0.00,9.23:0.00,38.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,32.1:0,0:0,0:113,76:37,74:27,33:-,NM_001080391.1(SP100) c.1429+346A>G:-,0.18:-,NOT_FOUND 2 231335251 . g . . NT END=231338038;NT GT ./. 2 231337960 rs1615190 C T 86 nt VT=SNV;PN=G;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206701.1/0;CC=c.1430-79C>T;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1430-79C>T;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1430-79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G,T:30:30:0:0:2,28:19,739:0.81,86.19:0.81,86.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:40.5,37.3:0,0:0,0:85,73:65,77:33,35:NM_001080391.1(SP100) c.1430-79C>T,NM_001080391.1(SP100) c.1430-79C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 231338156 . G . . NT END=231339108;NT GT ./. 2 231338211 rs1678169 T G 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206701.1/0;CC=c.1546+56T>G;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1546+56T>G;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1546+56T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:22:2:0:0:13,9:416,309:41.34,0.00:1.53,0.00:39.81,0.00:1.00,0.00:0.86,0.00:1.00,0.00:60,60:56.6,1.2:0,0:0,0:60,100:90,51:32,35:NM_001080391.1(SP100) c.1546+56T>G,-:0.18,-:NOT_FOUND,- 2 231339163 . G . . NT END=231359130;NT GT ./. 2 231359176 . G . . NT END=231363175;NT GT ./. 2 231363251 . G . . NT END=231367780;NT GT ./. 2 231363252 rs535838488 TA T 81 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1153;PC=0.974;Gene=SP100/NM_001206701.1/0;CC=c.1720+15delA;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1720+15delA;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1720+15delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TA,T:26:21:0:30:2,24:62,917:0.00,81.14:0.00,39.54:0.00,41.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,18.5:0,6:0,0:148,99:2,50:2,21:NM_001080391.1(SP100) c.1720+3delA,NM_001080391.1(SP100) c.1720+3delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 231367826 . G . . NT END=231368900;NT GT ./. 2 231369006 . G . . NT END=231371017;NT GT ./. 2 231370882 rs137966348 G C 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=7;Gene=SP100/NM_001206701.1/0;CC=c.1871-136G>C;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.1871-136G>C;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.1871-136G>C;VC=Intron;DM=SP100/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:36:36:0:0:16,19,1:526,615,7:49.73,0.00,-0.12:47.87,0.00,-0.12:1.86,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.63,0.00,0.00:60,60,60:42.7,17.7,153.0:0,0,0:0,0,0:52,53,57:98,98,94:36,27,0:NM_001080391.1(SP100) c.1871-136G>C,-:0.0023,-:NOT_FOUND,- 2 231371161 . G . . NT END=231372707;NT GT ./. 2 231371539 rs531043915 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001206701.1/0;CC=c.2013+379C>T;VC=Intron;Gene=SP100/NM_003113.3/0;CC=c.2013+379C>T;VC=Intron;Gene=SP100/NM_001080391.1/1;CC=c.2013+379C>T;VC=Intron;DM=SP100/SAND GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:131:15.01:5.77:9.24:1.00:1.00:1.00:60:45.8:0:0:63:77:20:NM_001080391.1(SP100) c.2013+379C>T,NM_001080391.1(SP100) c.2013+379C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 2 231372862 . T . . NT END=231375839;NT GT ./. 2 231375882 . G . . NT END=231379809;NT GT ./. 2 231380735 rs60209140 C CA 235 idl,rn VT=INS;SST=Single;DP=121;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=173;NP=6;PC=1.000;Gene=SP100/NM_003113.3/0;CC=c.*392dupA;VC=3UTR;Gene=SP100/NM_001080391.1/1;CC=c.2094+4866dupA;VC=Intron;DM=SP100/HMG_box_2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CA,D:110:70:83:3:6,28,1,72,3:158,900,11,2613,92:10.52,0.00,0.01,235.22,5.54:-0.27,0.00,0.06,112.92,0.96:10.79,0.00,-0.06,122.30,4.58:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:79.3,6.7,100.0,20.5,10.3:5,0,0,12,0:0,0,0,0,0:47,117,132,70,107:98,13,10,78,32:20,28,0,19,11:-,NM_001080391.1(SP100) c.2094+4854_2094+4855insA:-,NOT_FOUND:-,NOT_FOUND 2 231380828 . g . . NT END=231403981;NT GT ./. 2 231404098 . G . . NT END=231405590;NT GT ./. 2 231405712 . G . . NT END=231406015;NT GT ./. 2 231406088 . G . . NT END=231406606;NT GT ./. 2 231406259 rs1678149 G A 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.2403+172G>A;VC=Intron;DM=SP100/HMG_box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:3:0:0:10:310:35.73:7.79:27.94:1.00:1.00:1.00:60:65.7:0:0:64:86:35:NM_001080391.1(SP100) c.2403+172G>A,NM_001080391.1(SP100) c.2403+172G>A:1,1:NOT_FOUND,NOT_FOUND 2 231406332 rs6728193 T G 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.2403+245T>G;VC=Intron;DM=SP100/HMG_box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:3:0:0:8:202:23.87:7.26:16.61:1.00:1.00:1.00:60:81.4:0:0:108:42:24:NM_001080391.1(SP100) c.2403+245T>G,NM_001080391.1(SP100) c.2403+245T>G:0.51,0.51:NOT_FOUND,NOT_FOUND 2 231406680 rs836237 T C 282 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.2477T>C;ProtCh=p.M826T;VC=Missense;DM=SP100/HMG_box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:57:0:0:76:2454:281.63:146.86:134.77:1.00:1.00:1.00:60:36.2:0:0:100:49:35:NM_001080391.1(SP100) c.2477T>C (p.Met826Thr),NM_001080391.1(SP100) c.2477T>C (p.Met826Thr):0.7,0.7:0.82444,0.82444 2 231406751 . G . . NT END=231407550;NT GT ./. 2 231406846 rs10199013 G A 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.2547+96G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A,C:27:7:0:0:26,1:686,10:80.43,0.29:15.14,0.00:65.28,0.29:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,38.0:0,0:0,0:95,33:55,116:34,0:NM_001080391.1(SP100) c.2547+96G>A,NM_001080391.1(SP100) c.2547+96G>A:0.32,0.32:NOT_FOUND,NOT_FOUND 2 231407342 rs10199349 C A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.2548-209C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:184:21.26:21.26:0.00:1.00:1.00:0.00:60:76.7:0:0:41:104:36:NM_001080391.1(SP100) c.2548-209C>A,NM_001080391.1(SP100) c.2548-209C>A:0.32,0.32:NOT_FOUND,NOT_FOUND 2 231407372 rs864460 T C 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.2548-179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:222:25.51:25.51:0.00:1.00:1.00:0.00:60:70.6:0:0:43:99:18:NM_001080391.1(SP100) c.2548-179T>C,NM_001080391.1(SP100) c.2548-179T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 2 231407519 rs6717269 C T 98 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.2548-32C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:22:0:0:27:852:98.03:65.59:32.44:1.00:1.00:1.00:60:37.9:0:0:48:103:29:NM_001080391.1(SP100) c.2548-32C>T,NM_001080391.1(SP100) c.2548-32C>T:0.7,0.7:0.82254,0.82254 2 231407662 . C . . NT END=231624716;NT GT ./. 2 231407663 rs9288668 C T 107 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=SP100/NM_001080391.1/1;CC=c.*2C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:14:0:0:29:935:107.29:34.49:72.80:1.00:1.00:1.00:60:40.4:0:0:104:47:25:NM_001080391.1(SP100) c.*2C>T,NM_001080391.1(SP100) c.*2C>T:0.32,0.32:0.374791,0.374791 2 231437810 rs1966975 T C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.094 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:5:5:0:0:3,2:104,65:10.37,0.00:8.54,0.00:1.83,0.00:0.78,0.00:0.78,0.00:0.73,0.00:55,60:104.7,0.0:0,0:0,0:35,19:104,132:10,5:chr2 g.231437809T>C (intergenic),-:0.32,-:NOT_FOUND,- 2 231437877 rs1051223 G A 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G:11:11:0:0:8,3:228,78:23.74,0.00:21.82,0.00:1.92,0.00:1.00,0.00:1.00,0.00:0.82,0.00:55,60:115.1,13.7:0,0:0,0:62,81:88,70:15,10:chr2 g.231437876G>A (intergenic),-:0.32,-:NOT_FOUND,- 2 231437900 rs1966976 T G 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:178:G,T:14:14:0:0:8,6:258,176:25.46,0.00:23.54,0.00:1.92,0.00:1.00,0.00:1.00,0.00:0.71,0.00:55,60:100.0,44.2:0,0:0,0:79,63:66,87:22,43:chr2 g.231437899T>G (intergenic),-:0.32,-:NOT_FOUND,- 2 231438097 rs55795378 A T 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:50:35:0:0:29,21:940,700:0.00,65.26:0.00,38.86:0.00,26.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,53.2:0,0:0,0:59,44:89,107:33,35:-,chr2 g.231438096A>T (intergenic):-,0.32:-,NOT_FOUND 2 231438198 rs56007290 C T 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=NA;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:49:36:0:0:20,1,28:601,5,940:0.00,-0.13,93.19:0.00,-0.04,67.14:0.00,-0.09,26.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.9,20.0,69.2:0,0,0:0,0,0:98,55,96:52,84,54:37,0,28:-,chr2 g.231438197C>T (intergenic):-,0.32:-,NOT_FOUND 2 231438296 rs17276229 A G 124 nt VT=SNV;PN=T;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:43:0:0:28,39:928,1248:0.00,123.63:0.00,80.12:0.00,43.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,92.8:0,0:0,0:70,34:77,87:28,23:-,chr2 g.231438295A>G (intergenic):-,0.3:-,NOT_FOUND 2 231438347 rs17276271 C T 125 nt VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:42:0:0:26,42:869,1248:0.00,125.05:0.00,62.61:0.00,62.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,96.8:0,0:0,0:92,78:52,65:31,33:-,chr2 g.231438346C>T (intergenic):-,0.32:-,NOT_FOUND 2 231438388 rs62192834 G A 143 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:51:0:0:47,25:1403,721:142.58,0.00:84.34,0.00:58.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.0,20.5:0,0:0,0:66,47:84,92:38,24:chr2 g.231438387G>A (intergenic),-:0.32,-:NOT_FOUND,- 2 231438421 rs62192835 T C 156 nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:45:0:0:46,24:1539,703:156.36,0.00:95.18,0.00:61.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.3,21.4:0,0:0,0:62,65:86,82:31,23:chr2 g.231438420T>C (intergenic),-:0.32,-:NOT_FOUND,- 2 231438600 rs17276306 T C 169 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.140 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:79:47:0:0:54,25:1644,853:168.61,0.00:68.95,0.00:99.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.8,4.0:0,0:0,0:87,80:59,59:31,27:chr2 g.231438599T>C (intergenic),-:0.33,-:NOT_FOUND,- 2 231438650 rs62192836 T C 127 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:63:27:0:0:41,22:1249,732:126.66,0.00:35.16,0.00:91.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.1,3.6:0,0:0,0:93,93:49,47:34,35:chr2 g.231438649T>C (intergenic),-:0.32,-:NOT_FOUND,- 2 231438781 rs68007066 C A 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,C:16:0:0:0:13,3:398,106:42.61,0.00:0.00,0.00:42.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:44.5,0.0:0,0:0,0:98,47:52,104:24,13:chr2 g.231438780C>A (intergenic),-:0.32,-:NOT_FOUND,- 2 231438845 rs62192837 A C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.148 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:8:0:0:0:3,5:65,148:0.00,14.87:0.00,0.00:0.00,14.87:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,53.8:0,0:0,0:111,87:40,63:13,22:-,chr2 g.231438844A>C (intergenic):-,0.5:-,NOT_FOUND 2 231624831 . G . . NT END=231655586;NT GT ./. 2 231655752 . G . . NT END=231657927;NT GT ./. 2 231658047 . G . . NT END=231663443;NT GT ./. 2 231663613 . G . . NT END=231674977;NT GT ./. 2 231675038 . G . . NT END=231678763;NT GT ./. 2 231678830 . G . . NT END=231682468;NT GT ./. 2 231682261 rs6711911 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=CAB39/NM_016289.3/0;CC=c.694-208C>T;VC=Intron;Gene=CAB39/NM_001130849.1/0;CC=c.694-208C>T;VC=Intron;Gene=CAB39/NM_001130850.1/1;CC=c.694-208C>T;VC=Intron;DM=CAB39/Mo25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:5:5:0:0:1,4:35,131:0.00,13.92:0.00,13.92:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,71.5:0,0:0,0:77,46:73,104:0,29:-,NM_001130849.1(CAB39) c.694-208C>T:-,0.29:-,NOT_FOUND 2 231682263 rs71396654 T C 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=CAB39/NM_016289.3/0;CC=c.694-206T>C;VC=Intron;Gene=CAB39/NM_001130849.1/0;CC=c.694-206T>C;VC=Intron;Gene=CAB39/NM_001130850.1/1;CC=c.694-206T>C;VC=Intron;DM=CAB39/Mo25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:5:0:0:4,1:135,34:14.32,0.00:14.32,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:71.5,0.0:0,0:0,0:48,79:102,71:29,0:NM_001130849.1(CAB39) c.694-206T>C,-:0.34,-:NOT_FOUND,- 2 231682613 . G . . NT END=231683230;NT GT ./. 2 231683420 . T . . NT END=231729740;NT GT ./. 2 231706386 rs72084784 CGT C 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=22;PC=0.360;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CGT,C:3:3:0:3:1,2:27,98:0.00,6.55:0.00,1.69:0.00,4.86:0.00,0.51:0.00,0.89:0.00,0.51:60,60:0.0,35.0:0,1:0,0:48,52:103,99:0,44:-,chr2 g.231706387_231706388delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 231729420 rs201769471 C CGAGG 13 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=236;Gene=ITM2C/NM_001287240.1/0;CC=c.-143_-142insGGAG;VC=5UTR;Gene=ITM2C/NM_001287241.1/1;CC=c.-153_-152insGGAG;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CGAGG:5:5:4:0:1,4:36,125:0.00,13.32:0.00,13.32:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:12.0,32.2:0,0:0,0:113,51:38,99:0,27:-,NM_030926.4(ITM2C) c.-120-u201_-120-u200insGAGG:-,NOT_FOUND:-,NOT_FOUND 2 231729448 rs3098325 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=187;NP=89;Gene=ITM2C/NM_001287240.1/0;CC=c.-118C>T;VC=5UTR;Gene=ITM2C/NM_001287241.1/1;CC=c.-128C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:C,T:9:9:0:0:1,8:31,186:0.00,20.93:0.00,20.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.0,55.5:0,0:0,0:141,35:10,111:0,24:-,NM_030926.4(ITM2C) c.-120-u173C>T:-,NOT_FOUND:-,NOT_FOUND 2 231729861 . G . . NT END=231738131;NT GT ./. 2 231738168 rs2289235 G A 201 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.609;Gene=ITM2C/NM_001287240.1/0;CC=c.-30G>A;VC=5UTR;Gene=ITM2C/NM_001287241.1/1;CC=c.157G>A;ProtCh=p.G53S;VC=Missense;Gene=ITM2C/NM_001012514.2/0;CC=c.121-2167G>A;VC=Intron;Gene=ITM2C/NM_030926.5/0;CC=c.157G>A;ProtCh=p.G53S;VC=Missense;Gene=ITM2C/NM_001012516.2/0;CC=c.157G>A;ProtCh=p.G53S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:A:54:36:0:0:54:1749:200.58:90.04:110.54:1.00:1.00:1.00:60:63.1:0:0:58:92:29:NM_030926.4(ITM2C) c.157G>A (p.Gly53Ser),NM_030926.4(ITM2C) c.157G>A (p.Gly53Ser):0.54,0.54:0.405505,0.405505 2 231738263 rs2289234 C T 178 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ITM2C/NM_001287240.1/0;CC=c.66C>T;ProtCh=p.F22=;VC=Silent;Gene=ITM2C/NM_001287241.1/1;CC=c.252C>T;ProtCh=p.F84=;VC=Silent;Gene=ITM2C/NM_001012514.2/0;CC=c.121-2072C>T;VC=Intron;Gene=ITM2C/NM_030926.5/0;CC=c.252C>T;ProtCh=p.F84=;VC=Silent;Gene=ITM2C/NM_001012516.2/0;CC=c.252C>T;ProtCh=p.F84=;VC=Silent;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:T:48:30:0:0:48:1552:178.04:62.67:115.37:1.00:1.00:1.00:60:95.5:0:0:98:44:29:NM_030926.4(ITM2C) c.252C>T (p.(=)),NM_030926.4(ITM2C) c.252C>T (p.(=)):0.54,0.54:0.404275,0.404275 2 231738269 rs2289233 G A 171 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.450;Gene=ITM2C/NM_001287240.1/0;CC=c.72G>A;ProtCh=p.A24=;VC=Silent;Gene=ITM2C/NM_001287241.1/1;CC=c.258G>A;ProtCh=p.A86=;VC=Silent;Gene=ITM2C/NM_001012514.2/0;CC=c.121-2066G>A;VC=Intron;Gene=ITM2C/NM_030926.5/0;CC=c.258G>A;ProtCh=p.A86=;VC=Silent;Gene=ITM2C/NM_001012516.2/0;CC=c.258G>A;ProtCh=p.A86=;VC=Silent;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:27:0:0:47:1486:170.94:55.17:115.76:1.00:1.00:1.00:60:95.1:0:0:95:39:30:NM_030926.4(ITM2C) c.258G>A (p.(=)),NM_030926.4(ITM2C) c.258G>A (p.(=)):0.54,0.54:0.40489,0.40489 2 231738273 . G . . NT END=231740334;NT GT ./. 2 231738318 rs3816150 T C 108 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=ITM2C/NM_001287240.1/0;CC=c.75+46T>C;VC=Intron;Gene=ITM2C/NM_001287241.1/1;CC=c.261+46T>C;VC=Intron;Gene=ITM2C/NM_001012514.2/0;CC=c.121-2017T>C;VC=Intron;Gene=ITM2C/NM_030926.5/0;CC=c.261+46T>C;VC=Intron;Gene=ITM2C/NM_001012516.2/0;CC=c.261+46T>C;VC=Intron;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:11:0:0:30:938:108.09:24.90:83.19:1.00:1.00:1.00:60:93.2:0:0:111:33:24:NM_030926.4(ITM2C) c.261+46T>C,NM_030926.4(ITM2C) c.261+46T>C:0.54,0.54:0.405678,0.405678 2 231740276 rs2289231 A G 143 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=ITM2C/NM_001287240.1/0;CC=c.76-59A>G;VC=Intron;Gene=ITM2C/NM_001287241.1/1;CC=c.262-59A>G;VC=Intron;Gene=ITM2C/NM_001012514.2/0;CC=c.121-59A>G;VC=Intron;Gene=ITM2C/NM_030926.5/0;CC=c.262-59A>G;VC=Intron;Gene=ITM2C/NM_001012516.2/0;CC=c.262-59A>G;VC=Intron;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:35:0:0:37:1254:143.04:106.01:37.03:1.00:1.00:1.00:60:44.5:0:0:46:99:21:NM_030926.4(ITM2C) c.262-59A>G,NM_030926.4(ITM2C) c.262-59A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 231740524 . G . . NT END=231741571;NT GT ./. 2 231740765 rs10933359 G A 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ITM2C/NM_001287240.1/0;CC=c.264+242G>A;VC=Intron;Gene=ITM2C/NM_001287241.1/1;CC=c.450+242G>A;VC=Intron;Gene=ITM2C/NM_001012514.2/0;CC=c.309+242G>A;VC=Intron;Gene=ITM2C/NM_030926.5/0;CC=c.450+242G>A;VC=Intron;Gene=ITM2C/NM_001012516.2/0;CC=c.450+242G>A;VC=Intron;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS;DM=ITM2C/BRICHOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:189:21.76:0.00:21.76:1.00:0.00:1.00:60:44.7:0:0:99:50:34:NM_030926.4(ITM2C) c.450+242G>A,NM_030926.4(ITM2C) c.450+242G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 2 231741683 . G . . NT END=231742114;NT GT ./. 2 231742138 rs34910213 G A 111 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ITM2C/NM_001287240.1/0;CC=c.399G>A;ProtCh=p.T133=;VC=Silent;Gene=ITM2C/NM_001287241.1/1;CC=c.585G>A;ProtCh=p.T195=;VC=Silent;Gene=ITM2C/NM_001012514.2/0;CC=c.444G>A;ProtCh=p.T148=;VC=Silent;Gene=ITM2C/NM_030926.5/0;CC=c.585G>A;ProtCh=p.T195=;VC=Silent;Gene=ITM2C/NM_001012516.2/0;CC=c.474G>A;ProtCh=p.T158=;VC=Silent;DM=ITM2C/BRICHOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:52:0:0:36,42:1177,1280:111.49,0.00:43.01,0.00:68.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,8.8:0,0:0,0:84,84:64,47:29,42:NM_030926.4(ITM2C) c.585G>A (p.(=)),-:0.01,-:0.01261,- 2 231742266 . G . . NT END=231742722;NT GT ./. 2 231742815 . G . . NT END=231774717;NT GT ./. 2 231775690 . A . . NT END=231860948;NT GT ./. 2 231822308 rs3106074 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.052 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:A,G:5:4:0:0:4,1:136,29:14.42,0.00:10.74,0.00:3.68,0.00:0.96,0.00:1.00,0.00:0.87,0.00:60,60:34.0,5.0:0,0:0,0:100,89:50,62:18,0:chr2 g.231822307G>A (intergenic),-:0.43,-:NOT_FOUND,- 2 231860848 rs6722863 A G 169 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SPATA3/NM_139073.3/1;CC=c.-101A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C,G:51:50:0:0:1,50:11,1460:0.22,169.31:0.22,155.52:0.00,13.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:139.0,38.3:0,0:0,0:94,40:43,108:0,25:NM_139073.3(SPATA3) c.-101A>G,NM_139073.3(SPATA3) c.-101A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 2 231861250 . G . . NT END=231865080;NT GT ./. 2 231865144 rs12105962 G C 174 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SPATA3/NM_139073.3/1;CC=c.365G>C;ProtCh=p.C122S;VC=Missense;DM=SPATA3/SPATA3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:111:73:0:0:55,56:1807,1836:173.51,0.00:92.13,0.00:81.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,11.8:0,0:0,0:62,80:84,65:28,36:NM_139073.3(SPATA3) c.365G>C (p.Cys122Ser),-:0.23,-:0.233903,- 2 231865253 . G . . NT END=231867398;NT GT ./. 2 231867505 . A . . NT END=231902280;NT GT ./. 2 231894487 rs6436991 A G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=456 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:0:5:169:19.28:7.30:11.98:1.00:1.00:1.00:70:85.2:0:0:68:75:25:chr2 g.231894486A>G (intergenic),chr2 g.231894486A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 231902915 . G . . NT END=231906010;NT GT ./. 2 231906125 . G . . NT END=231911596;NT GT ./. 2 231911737 . A . . NT END=231921739;NT GT ./. 2 231921756 . G . . NT END=231925980;NT GT ./. 2 231926025 . G . . NT END=231926961;NT GT ./. 2 231927036 . G . . NT END=231927219;NT GT ./. 2 231927390 . G . . NT END=231931619;NT GT ./. 2 231931826 . G . . NT END=231934738;NT GT ./. 2 231934883 . G . . NT END=231936902;NT GT ./. 2 231937130 . G . . NT END=231940224;NT GT ./. 2 231940286 . G . . NT END=231941747;NT GT ./. 2 231941877 . G . . NT END=231943372;NT GT ./. 2 231943462 . G . . NT END=231944249;NT GT ./. 2 231943505 rs377099091 C T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=341;PC=0.203;Gene=PSMD1/NM_001191037.1/0;CC=c.1160+44C>T;VC=Intron;Gene=PSMD1/NM_002807.3/1;CC=c.1160+44C>T;VC=Intron;Gene=PSMD1/NR_034059.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T,I:25:7:2:0:18,6,1:562,154,66:0.00,12.41,1.96:0.00,-0.34,1.18:0.00,12.75,0.78:0.00,0.91,0.00:0.00,0.81,0.00:0.00,0.91,0.00:60,60,60:9.7,92.3,59.0:0,1,1:0,0,0:135,81,43:16,69,98:9,7,21:-,NM_002807.3(PSMD1) c.1160+44C>T:-,NOT_FOUND:-,NOT_FOUND 2 231944329 . G . . NT END=231944854;NT GT ./. 2 231945029 . G . . NT END=231947596;NT GT ./. 2 231947709 . G . . NT END=231948280;NT GT ./. 2 231948478 . G . . NT END=231949732;NT GT ./. 2 231949829 . G . . NT END=231951830;NT GT ./. 2 231951896 . G . . NT END=231973230;NT GT ./. 2 231974124 . C . . NT END=231978442;NT GT ./. 2 231978644 . C . . NT END=231988126;NT GT ./. 2 231988479 . T . . NT END=232003449;NT GT ./. 2 232003565 . G . . NT END=232010953;NT GT ./. 2 232011071 . G . . NT END=232018277;NT GT ./. 2 232018381 . G . . NT END=232026053;NT GT ./. 2 232025952 rs397703180 T TA 8 end,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=183;PC=0.012;Gene=PSMD1/NM_001191037.1/0;CC=c.2219-88_2219-87insA;VC=Intron;Gene=PSMD1/NM_002807.3/1;CC=c.2219-88_2219-87insA;VC=Intron;Gene=PSMD1/NR_034059.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,T,TA,D:10:10:3:1:1,5,3,1:30,166,91,26:2.25,0.00,8.19,1.85:2.27,0.00,8.27,1.87:-0.02,0.00,-0.08,-0.02:0.00,0.00,0.62,0.00:0.00,0.00,0.62,0.00:0.00,0.00,0.53,0.00:60,60,60,60:62.0,5.4,39.3,49.0:0,0,0,0:0,0,0,0:40,117,9,95:105,34,140,56:0,25,2,0:-,NM_002807.3(PSMD1) c.2219-102_2219-101insA:-,NOT_FOUND:-,NOT_FOUND 2 232026224 . G . . NT END=232028348;NT GT ./. 2 232028442 . G . . NT END=232029913;NT GT ./. 2 232030001 . G . . NT END=232030584;NT GT ./. 2 232030732 . G . . NT END=232035279;NT GT ./. 2 232035427 . G . . NT END=232070951;NT GT ./. 2 232071003 . G . . NT END=232072839;NT GT ./. 2 232072796 rs374229241 ATTTG A 25 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=451;PC=0.045;Gene=ARMC9/NM_001291656.1/0;CC=c.52-36_52-33delGTTT;VC=Intron;Gene=ARMC9/NM_025139.5/0;CC=c.52-36_52-33delGTTT;VC=Intron;Gene=ARMC9/NM_001271466.2/1;CC=c.52-36_52-33delGTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTTG,A:22:20:0:9:13,9:338,267:0.00,24.56:0.00,18.57:0.00,5.99:0.00,1.00:0.00,1.00:0.00,0.92:60,70:26.5,35.7:0,0:0,0:27,27:123,123:25,22:-,NM_001271466.1(ARMC9) c.52-43_52-40delTTTG:-,0.29:-,0.28987 2 232072912 rs11558174 T C 42 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ARMC9/NM_001291656.1/0;CC=c.124T>C;ProtCh=p.L42=;VC=Silent;Gene=ARMC9/NM_025139.5/0;CC=c.124T>C;ProtCh=p.L42=;VC=Silent;Gene=ARMC9/NM_001271466.2/1;CC=c.124T>C;ProtCh=p.L42=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:27:0:0:14,22:459,659:42.13,0.00:19.85,0.00:22.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:38.3,14.8:0,0:0,0:56,107:91,40:34,21:NM_001271466.1(ARMC9) c.124T>C (p.(=)),-:0.27,-:0.292218,- 2 232072966 . G . . NT END=232079543;NT GT ./. 2 232073106 rs12465438 G A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.004;Gene=ARMC9/NM_001291656.1/0;CC=c.177+141G>A;VC=Intron;Gene=ARMC9/NM_025139.5/0;CC=c.177+141G>A;VC=Intron;Gene=ARMC9/NM_001271466.2/1;CC=c.177+141G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:155:A,G:12:0:0:0:5,7:154,215:14.25,0.00:0.00,0.00:14.25,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:39.2,7.6:0,0:0,0:108,117:43,34:38,23:NM_001271466.1(ARMC9) c.177+141G>A,-:0.26,-:NOT_FOUND,- 2 232079409 rs79587894 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ARMC9/NM_001291656.1/0;CC=c.178-135C>T;VC=Intron;Gene=ARMC9/NM_025139.5/0;CC=c.178-135C>T;VC=Intron;Gene=ARMC9/NM_001271466.2/1;CC=c.178-135C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:C,T:15:15:0:0:10,5:311,165:0.00,14.74:0.00,14.74:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:29.0,41.0:0,0:0,0:30,67:121,84:23,7:-,NM_001271466.1(ARMC9) c.178-135C>T:-,0.02:-,NOT_FOUND 2 232079715 . G . . NT END=232081350;NT GT ./. 2 232081507 . G . . NT END=232087440;NT GT ./. 2 232087474 rs1626450 A G 91 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ARMC9/NM_001291656.1/0;CC=c.538A>G;ProtCh=p.I180V;VC=Missense;Gene=ARMC9/NM_025139.5/0;CC=c.538A>G;ProtCh=p.I180V;VC=Missense;Gene=ARMC9/NM_001271466.2/1;CC=c.538A>G;ProtCh=p.I180V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:20:0:0:24:792:90.63:49.45:41.18:1.00:1.00:1.00:60:66.9:0:0:45:98:26:NM_001271466.1(ARMC9) c.539A>T (p.Glu180Val),NM_001271466.1(ARMC9) c.539A>T (p.Glu180Val):0.84,0.84:0.992842,0.992842 2 232087475 rs1626451 T A 87 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ARMC9/NM_001291656.1/0;CC=c.539T>A;ProtCh=p.I180K;VC=Missense;Gene=ARMC9/NM_025139.5/0;CC=c.539T>A;ProtCh=p.I180K;VC=Missense;Gene=ARMC9/NM_001271466.2/1;CC=c.539T>A;ProtCh=p.I180K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:20:0:0:24:756:86.97:48.15:38.82:1.00:1.00:1.00:60:64.2:0:0:60:79:33:NM_001271466.1(ARMC9) c.538G>A (p.Glu180Lys),NM_001271466.1(ARMC9) c.538G>A (p.Glu180Lys):0.84,0.84:0.999769,0.999769 2 232087534 . G . . NT END=232091486;NT GT ./. 2 232091512 . G . . NT END=232099936;NT GT ./. 2 232100095 . G . . NT END=232104655;NT GT ./. 2 232104755 . G . . NT END=232121298;NT GT ./. 2 232119893 rs559453202 AACACAC A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;PC=0.013;Gene=ARMC9/NM_001291656.1/0;CC=c.880-1370_880-1365delCACACA;VC=Intron;Gene=ARMC9/NM_025139.5/0;CC=c.880-1370_880-1365delCACACA;VC=Intron;Gene=ARMC9/NM_001271466.2/1;CC=c.880-1370_880-1365delCACACA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AACACAC,A:4:4:0:3:2,2:65,99:0.00,6.31:0.00,-0.38:0.00,6.70:0.00,0.46:0.00,0.87:0.00,0.87:60,60:0.0,0.0:0,1:0,0:121,46:26,82:11,23:-,NM_001271466.1(ARMC9) c.880-1405_880-1400delACACAC:-,NOT_FOUND:-,NOT_FOUND 2 232121334 . G . . NT END=232123703;NT GT ./. 2 232123816 . G . . NT END=232127018;NT GT ./. 2 232127112 . G . . NT END=232135694;NT GT ./. 2 232135541 rs7604042 A T 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=ARMC9/NM_001291656.1/0;CC=c.1120-154A>T;VC=Intron;Gene=ARMC9/NM_025139.5/0;CC=c.1120-154A>T;VC=Intron;Gene=ARMC9/NM_001271466.2/1;CC=c.1120-154A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:A,T:19:19:0:0:6,13:198,412:0.00,42.25:0.00,42.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.2,36.6:0,0:0,0:39,36:112,115:10,27:-,NM_001271466.1(ARMC9) c.1120-154A>T:-,0.55:-,NOT_FOUND 2 232135786 . G . . NT END=232137667;NT GT ./. 2 232137792 . G . . NT END=232141348;NT GT ./. 2 232141489 . G . . NT END=232143094;NT GT ./. 2 232143172 . G . . NT END=232146771;NT GT ./. 2 232146847 . G . . NT END=232156065;NT GT ./. 2 232156157 . G . . NT END=232160910;NT GT ./. 2 232160967 . G . . NT END=232196504;NT GT ./. 2 232196610 . G . . NT END=232209686;NT GT ./. 2 232209912 . G . . NT END=232220509;NT GT ./. 2 232220647 . G . . NT END=232225465;NT GT ./. 2 232225535 rs397988196 C CG 350 PASS VT=INS;SST=Single;DP=113;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=119;Gene=ARMC9/NM_001271466.2/1;CC=c.2204dupG;ProtCh=p.P736Tfs*84;VC=FrameShiftIns;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:C,G,CG:113:83:103:0:7,3,103:171,100,3118:0.00,6.65,349.69:0.00,3.34,175.76:0.00,3.31,173.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:27.3,33.3,6.3:3,0,0:0,0,0:144,0,61:5,136,84:6,0,34:NM_001271466.1(ARMC9) c.2205dupG (p.Thr736Aspfs*232),NM_001271466.1(ARMC9) c.2205dupG (p.Thr736Aspfs*232):1,1:NOT_FOUND,NOT_FOUND 2 232225596 . T . . NT END=232234663;NT GT ./. 2 232234837 . G . . NT END=232236223;NT GT ./. 2 232236247 . G . . NT END=232260514;NT GT ./. 2 232260526 . G . . NT END=232261886;NT GT ./. 2 232260537 rs4972989 T G 333 nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=0.005;Gene=B3GNT7/NM_145236.2/1;CC=c.11+12T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:93:63:0:0:93:2893:333.47:138.90:194.57:1.00:1.00:1.00:60:40.8:0:0:89:55:25:NM_145236.2(B3GNT7) c.11+12T>G,NM_145236.2(B3GNT7) c.11+12T>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 232261987 . G . . NT END=232262441;NT GT ./. 2 232263637 . C . . NT END=232319901;NT GT ./. 2 232298812 rs13017932 C T 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:19:0:0:13,13:388,427:0.00,41.12:0.00,24.81:0.00,16.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.1,44.8:0,0:0,0:45,60:104,91:24,25:-,chr2 g.232298811C>T (intergenic):-,0.34:-,NOT_FOUND 2 232319596 . C A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;PC=0.984;Gene=NCL/NM_005381.2/1;CC=c.*306G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:4:4:0:0:3,1:62,34:6.61,0.00:6.61,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:67.3,32.0:0,0:0,0:102,32:49,118:33,0:XM_003846225.1(LOC100996253) c.-277C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 232319979 . C . . NT END=232320111;NT GT ./. 2 232320336 . C . . NT END=232320720;NT GT ./. 2 232320848 . C . . NT END=232321341;NT GT ./. 2 232320856 rs59377947 G GA 79 rn VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1084;PC=0.001;Gene=NCL/NM_005381.2/1;CC=c.1706-10dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA,D:69:28:28:1:1,40,27,1:12,1278,893,34:-0.04,0.00,79.27,1.78:-0.07,0.00,17.25,-0.07:0.04,0.00,62.01,1.86:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:75.0,11.1,6.6,0.0:0,0,1,0:0,0,0,0:109,90,79,80:42,56,62,71:0,25,34,0:-,NM_005381.2(NCL) c.1706-10_1706-9insT:-,NOT_FOUND:-,NOT_FOUND 2 232321476 . C . . NT END=232321711;NT GT ./. 2 232321836 . C . . NT END=232322353;NT GT ./. 2 232321956 rs7598759 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=NCL/NM_005381.2/1;CC=c.1448-121G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:6:0:0:18,11:544,339:0.00,30.79:0.00,3.11:0.00,27.67:0.00,1.00:0.00,0.93:0.00,1.00:60,60:3.9,35.8:0,0:0,0:103,59:47,92:20,28:-,NM_005381.2(NCL) c.1448-121G>A:-,0.47:-,NOT_FOUND 2 232322512 . C . . NT END=232322976;NT GT ./. 2 232322779 rs6754426 G A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NCL/NM_005381.2/1;CC=c.1289+198C>T;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:8:6:0:0:3,5:100,129:9.15,0.00:5.90,0.00:3.25,0.00:0.67,0.00:0.93,0.00:0.67,0.00:60,60:57.7,11.4:0,0:0,0:90,62:61,88:7,13:NM_005381.2(NCL) c.1289+198C>T,-:0.48,-:NOT_FOUND,- 2 232322829 rs6712148 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=NCL/NM_005381.2/1;CC=c.1289+148A>G;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:146:C,T:10:9:0:0:5,5:140,156:13.36,0.00:11.90,0.00:1.46,0.00:0.95,0.00:1.00,0.00:0.67,0.00:60,60:48.0,5.8:0,0:0,0:86,99:64,48:61,22:NM_005381.2(NCL) c.1289+148A>G,-:0.19,-:NOT_FOUND,- 2 232323101 . C . . NT END=232323711;NT GT ./. 2 232323837 . C . . NT END=232324862;NT GT ./. 2 232324780 rs2442322 A G 121 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=NCL/NM_005381.2/1;CC=c.1040+83T>C;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:G,T:34:32:0:0:33,1:1059,9:121.12,0.20:105.86,0.20:15.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,42.0:0,0:0,0:60,11:91,140:42,0:NM_005381.2(NCL) c.1040+83T>C,NM_005381.2(NCL) c.1040+83T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 232325005 . C . . NT END=232325188;NT GT ./. 2 232325039 rs56310279 G C 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=NCL/NM_005381.2/1;CC=c.899-35C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:50:24:0:0:21,29:690,937:64.25,0.00:30.26,0.00:34.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,12.6:0,0:0,0:87,77:64,73:39,41:NM_005381.2(NCL) c.899-35C>G,-:0.07,-:0.067902,- 2 232325276 . C . . NT END=232325379;NT GT ./. 2 232325438 rs66781921 TTCG T 102 PASS VT=DEL;SST=Single;DP=80;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;Gene=NCL/NM_005381.2/1;CC=c.750_752delCGA;ProtCh=p.D250del;VC=InFrameDel;DM=NCL/RRM_1;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,TTCG,T:80:46:0:35:2,1,42,35:19,10,1405,1090:-0.06,-0.10,0.00,102.49:-0.23,-0.11,0.00,49.65:0.17,0.01,0.00,52.84:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:74.0,220.0,9.3,5.5:0,0,0,0:0,0,0,0:60,46,106,93:83,104,44,58:53,0,35,29:-,NM_005381.2(NCL) c.741CGA[3] (p.Asp246[4]):-,NOT_FOUND:-,NOT_FOUND 2 232325578 . C . . NT END=232326250;NT GT ./. 2 232325692 rs12996154 A C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NCL/NM_005381.2/1;CC=c.614-115T>G;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:1:0:0:11,7:373,209:0.00,19.01:0.00,-0.11:0.00,19.12:0.00,0.98:0.00,0.59:0.00,0.98:60,60:12.0,31.1:0,0:0,0:103,120:48,31:14,8:-,NM_005381.2(NCL) c.614-115T>G:-,0.22:-,NOT_FOUND 2 232325997 rs557956871 T TA 8 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=30;NP=4;PC=0.003;Gene=NCL/NM_005381.2/1;CC=c.613+253_613+254insT;VC=Intron;DM=NCL/RRM_1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,T,TA,D:9:10:4:1:1,4,3,1:32,120,121,33:2.50,0.00,8.04,2.59:2.50,0.00,8.04,2.59:0.00,0.00,0.00,0.00:0.00,0.00,0.62,0.00:0.00,0.00,0.62,0.00:0.00,0.00,0.00,0.00:60,60,60,60:32.0,6.0,20.0,0.0:0,0,1,0:0,0,0,0:35,68,37,112:115,82,113,39:0,25,15,0:-,NM_005381.2(NCL) c.613+253_613+254insT:-,NOT_FOUND:-,NOT_FOUND 2 232326729 . C . . NT END=232327910;NT GT ./. 2 232326801 rs2595514 A T 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=NCL/NM_005381.2/1;CC=c.136-73T>A;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:35:4:0:0:15,20:445,598:0.00,58.94:0.00,4.63:0.00,54.31:0.00,1.00:0.00,0.97:0.00,1.00:60,60:7.3,43.9:0,0:0,0:92,108:58,39:35,22:-,NM_005381.2(NCL) c.136-73T>A:-,0.71:-,0.672829 2 232326873 rs375067665 TTC T 35 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=738;Gene=NCL/NM_005381.2/1;CC=c.136-147_136-146delGA;VC=Intron;DM=NCL/RRM_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTC,T:21:0:0:11:10,11:323,362:0.00,35.14:0.00,0.00:0.00,35.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.0,23.2:0,0:0,0:103,60:48,90:29,43:-,NM_005381.2(NCL) c.136-147_136-146delGA:-,0.12:-,NOT_FOUND 2 232327856 rs75943616 T A 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=NCL/NM_005381.2/1;CC=c.135+55A>T;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,T:15:15:0:0:5,10:156,322:13.84,0.00:14.19,0.00:-0.35,0.00:0.89,0.00:0.89,0.00:0.81,0.00:60,60:53.4,15.5:0,0:0,0:103,57:47,93:23,39:NM_005381.2(NCL) c.135+55A>T,-:0.04,-:NOT_FOUND,- 2 232328028 . C . . NT END=232328853;NT GT ./. 2 232328659 rs113298610 T C 27 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=NCL/NM_005381.2/1;CC=c.18+388A>G;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:C,T:14:14:0:0:8,6:274,178:27.07,0.00:27.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:77.8,0.0:0,0:0,0:48,36:102,114:35,9:NM_005381.2(NCL) c.18+388A>G,-:0.04,-:NOT_FOUND,- 2 232328681 rs10202701 C T 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NCL/NM_005381.2/1;CC=c.18+366G>A;VC=Intron;DM=NCL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:8,8:233,268:0.00,25.81:0.00,25.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.9,73.0:0,0:0,0:43,45:107,105:22,28:-,NM_005381.2(NCL) c.18+366G>A:-,0.42:-,NOT_FOUND 2 232328919 . G . . NT END=232329046;NT GT ./. 2 232329065 . G . . NT END=232389753;NT GT ./. 2 232390137 . C . . NT END=232392833;NT GT ./. 2 232392684 . GACAC G,GACACAC 33 idl;end,nt VT=INS;SST=Single;DP=21;NP=1;DM=NMUR1/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:8:GACACAC,G:11:21:20:1:10,1:610,31:32.65,2.26:32.65,2.26:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:28.6,27.0:10,0:0,0:26,10:125,140:10,0:NM_006056.4(NMUR1) c.898+146_898+149delGTGT,NM_006056.4(NMUR1) c.898+148_898+149dupGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 232393729 . C . . NT END=232395069;NT GT ./. 2 232395073 . G . . NT END=232457662;NT GT ./. 2 232395274 rs3070953 G A 71 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:0:0:0:21:607:70.59:0.00:70.59:1.00:0.00:1.00:60:53.1:6:0:102:29:19:NM_006056.4(NMUR1) c.-110-u92C>T,NM_006056.4(NMUR1) c.-110-u92C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 232395275 rs6147224 TTGGAGGCGACACCTCCACAAGCAGCG T 16 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=134;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:TTGGAGGCGACACCTCCACAAGCAGCG,T:21:0:0:6:15,6:428,190:0.00,16.42:0.00,0.00:0.00,16.42:0.00,0.93:0.00,0.00:0.00,0.93:60,60:57.3,42.7:0,0:0,0:107,69:28,81:10,15:-,NM_006056.4(NMUR1) c.-110-u119_-110-u94delCGCTGCTTGTGGAGGTGTCGCCTCCA:-,NOT_FOUND:-,NOT_FOUND 2 232457880 rs74460533 T C 223 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=136;DB;DBA=NA;PAF=NA;Gene=C2orf57/NM_152614.2/1;CC=c.218T>C;ProtCh=p.V73A;VC=Missense;DM=C2orf57/DUF4678 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:136:96:0:0:1,68,67:10,2314,2098:-0.13,223.22,0.00:-0.10,135.52,0.00:-0.04,87.70,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:117.0,38.9,10.1:0,0,0:0,0,0:22,79,73:120,69,73:0,33,37:NM_152614.2(C2orf57) c.218T>C (p.Val73Ala),-:0.04,-:0.05582,- 2 232458443 rs10933378 T C 623 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=177;DB;DBA=NA;PAF=NA;PC=0.001;Gene=C2orf57/NM_152614.2/1;CC=c.781T>C;ProtCh=p.S261P;VC=Missense;DM=C2orf57/DUF4678 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:177:107:0:0:1,174,1,1:11,5432,8,11:0.08,623.19,0.03,0.00:0.08,274.40,-0.00,0.00:0.00,348.78,0.04,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:203.0,37.4,14.0,9.0:0,0,0,0:0,0,0,0:29,80,9,78:116,65,142,73:0,37,0,0:NM_152614.2(C2orf57) c.781T>C (p.Ser261Pro),NM_152614.2(C2orf57) c.781T>C (p.Ser261Pro):0.94,0.94:0.915193,0.915193 2 232458851 . A . . NT END=232573416;NT GT ./. 2 232498517 rs66489350 AGTGT A 11 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=192;PC=0.010;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:4:3:127:10.56:8.88:1.68:0.85:0.85:0.99:60:7.0:1:0:70:61:33:chr2 g.232498518_232498521delGTGT (intergenic),chr2 g.232498518_232498521delGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 232503455 rs10209580 T C 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.308 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C,G:8:6:0:0:7,1:231,11:26.03,0.72:16.88,0.72:9.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.0,120.0:0,0:0,0:60,113:81,37:57,0:chr2 g.232503454T>C (intergenic),chr2 g.232503454T>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 2 232503536 rs140918443 T A 19 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=57;PC=0.067 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:3:0:4:6:165:19.31:11.93:7.38:1.00:1.00:1.00:60:107.3:0:0:80:59:21:chr2 g.232503535T>A (intergenic),chr2 g.232503535T>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 232503538 rs199681683 T A 24 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=35;PC=0.070 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,T:8:4:0:2:7,1:219,32:23.93,0.00:12.97,0.00:10.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:99.3,56.0:2,0:0,0:76,141:63,6:12,0:chr2 g.232503537T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 232503540 rs201000971 T A 20 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=26;PC=0.072 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,T:8:4:0:2:6,2:194,60:20.31,0.00:9.03,0.00:11.28,0.00:1.00,0.00:0.85,0.00:1.00,0.00:60,60:100.3,74.5:2,0:0,0:72,144:71,5:15,1:chr2 g.232503539T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 232573462 . G . . NT END=232576057;NT GT ./. 2 232576130 . G . . NT END=232576596;NT GT ./. 2 232576431 rs2070936 T C 187 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;Gene=PTMA/NM_001099285.1/1;CC=c.118-166T>C;VC=Intron;Gene=PTMA/NM_002823.4/0;CC=c.118-169T>C;VC=Intron;DM=PTMA/Prothymosin;DM=PTMA/Prothymosin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:C:50:49:0:0:50:1632:186.97:159.94:27.04:1.00:1.00:1.00:60:37.8:0:0:42:108:25:NM_001099285.1(PTMA) c.118-166T>C,NM_001099285.1(PTMA) c.118-166T>C:0.38,0.38:NOT_FOUND,NOT_FOUND 2 232576694 . G . . NT END=232577152;NT GT ./. 2 232577227 . G . . NT END=232577513;NT GT ./. 2 232577562 . A . . NT END=232597661;NT GT ./. 2 232597744 . C . . NT END=232601896;NT GT ./. 2 232602003 . C . . NT END=232602722;NT GT ./. 2 232602849 . C . . NT END=232603809;NT GT ./. 2 232603629 . CA C 8 rn VT=DEL;SST=Single;DP=7;PC=0.041;Gene=PDE6D/NM_001291018.1/0;CC=c.139+180delT;VC=Intron;Gene=PDE6D/NM_002601.3/1;CC=c.139+180delT;VC=Intron;DM=PDE6D/GMP_PDE_delta;DM=PDE6D/GMP_PDE_delta;DM=PDE6D/GMP_PDE_delta;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:CA,I,C:7:7:1:3:3,1,3:79,34,87:0.00,2.83,8.30:0.00,2.83,8.30:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,60:29.7,0.0,18.7:0,0,0:0,0,0:142,107,89:8,44,62:6,0,1:-,NM_002601.2(PDE6D) c.139+180delT:-,NOT_FOUND:-,NOT_FOUND 2 232603899 . C . . NT END=232645774;NT GT ./. 2 232645825 . G . . NT END=232646533;NT GT ./. 2 232646521 rs149343680 C A 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=COPS7B/NM_001282949.2/0;CC=c.-13C>A;VC=5UTR;Gene=COPS7B/NM_001282951.2/0;CC=c.-89C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:57:48:0:0:26,31:848,942:80.15,0.00:54.00,0.00:26.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,10.8:0,0:0,0:66,75:79,72:26,36:NM_002601.2(PDE6D) c.-150-u547G>T,-:0.01,-:NOT_FOUND,- 2 232646594 . G . . NT END=232651143;NT GT ./. 2 232651249 . G . . NT END=232653264;NT GT ./. 2 232653443 . G . . NT END=232656442;NT GT ./. 2 232656519 . G . . NT END=232658972;NT GT ./. 2 232659062 . G . . NT END=232660815;NT GT ./. 2 232661019 . G . . NT END=232663568;NT GT ./. 2 232663675 . G . . NT END=232665849;NT GT ./. 2 232666020 . A . . NT END=232672196;NT GT ./. 2 232672356 . G . . NT END=232790134;NT GT ./. 2 232790053 rs5268 C T 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=NPPC/NM_024409.2/1;CC=c.*20+62G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:55:0:0:38,21:1182,654:0.00,58.71:0.00,51.96:0.00,6.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,46.5:0,0:0,0:34,56:115,95:26,35:-,NM_024409.2(NPPC) c.*20+62G>A:-,0.43:-,NOT_FOUND 2 232790426 . C . . NT END=232790869;NT GT ./. 2 232790960 . G . . NT END=232879637;NT GT ./. 2 232879690 . G . . NT END=232880223;NT GT ./. 2 232880382 . G . . NT END=232888986;NT GT ./. 2 232888856 rs896990 T G 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=DIS3L2/NM_001257282.1/0;CC=c.211-131T>G;VC=Intron;Gene=DIS3L2/NM_152383.4/1;CC=c.211-131T>G;VC=Intron;Gene=DIS3L2/NR_046476.1/0;VC=NonCoding;Gene=DIS3L2/NR_046477.1/0;VC=NonCoding;Gene=DIS3L2/NM_001257281.1/0;CC=c.211-131T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:449:51.55:51.55:0.00:1.00:1.00:0.00:60:44.9:0:0:44:106:30:NM_152383.4(DIS3L2) c.211-131T>G,NM_152383.4(DIS3L2) c.211-131T>G:0.8,0.8:NOT_FOUND,NOT_FOUND 2 232889041 . G . . NT END=232894688;NT GT ./. 2 232894791 . G . . NT END=232952196;NT GT ./. 2 232952432 . G . . NT END=232995328;NT GT ./. 2 232995507 . g . . NT END=233001181;NT GT ./. 2 233001430 . G . . NT END=233028168;NT GT ./. 2 233028070 rs3116181 A G 126 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=DIS3L2/NM_152383.4/1;CC=c.951-99A>G;VC=Intron;Gene=DIS3L2/NR_046476.1/0;VC=NonCoding;Gene=DIS3L2/NR_046477.1/0;VC=NonCoding;Gene=DIS3L2/NM_001257281.1/0;CC=c.951-99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:32:0:0:34:1099:126.11:111.00:15.11:1.00:1.00:1.00:60:41.2:0:0:63:87:36:NM_152383.4(DIS3L2) c.951-99A>G,NM_152383.4(DIS3L2) c.951-99A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 2 233028343 . G . . NT END=233075035;NT GT ./. 2 233075116 . G . . NT END=233103242;NT GT ./. 2 233103356 . G . . NT END=233113948;NT GT ./. 2 233114057 . G . . NT END=233127916;NT GT ./. 2 233128151 . G . . NT END=233164749;NT GT ./. 2 233164830 . G . . NT END=233194522;NT GT ./. 2 233194707 . G . . NT END=233195399;NT GT ./. 2 233195487 . G . . NT END=233198549;NT GT ./. 2 233198698 . G . . NT END=233199078;NT GT ./. 2 233199210 . G . . NT END=233199340;NT GT ./. 2 233199446 . G . . NT END=233200482;NT GT ./. 2 233200830 . G A 210 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=161;NP=1;PC=0.011;Gene=DIS3L2/NM_152383.4/1;CC=c.2496+246G>A;VC=Intron;Gene=DIS3L2/NR_046476.1/0;VC=NonCoding;Gene=DIS3L2/NR_046477.1/0;VC=NonCoding;Gene=DIS3L2/NM_001257281.1/0;CC=c.1582-7225G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:161:98:0:0:77,84:2215,2769:209.56,0.00:90.01,0.00:119.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,10.7:0,0:0,0:91,105:59,34:36,29:NM_152383.4(DIS3L2) c.2496+246G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 233201909 . G . . NT END=233208054;NT GT ./. 2 233202004 rs36006786 G A 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=DIS3L2/NM_001257281.1/0;CC=c.1582-6051G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,C,G:24:2:0:0:6,1,17:159,17,572:13.03,0.54,0.00:-0.19,-0.03,0.00:13.21,0.57,0.00:0.92,0.00,0.00:0.53,0.00,0.00:0.99,0.00,0.00:60,60,60:59.5,17.0,5.4:0,0,0:0,0,0:131,146,97:19,4,52:13,0,36:NM_001257281.1(DIS3L2) c.1582-6051G>A,-:0.1,-:NOT_FOUND,- 2 233208286 . A . . NT END=233243467;NT GT ./. 2 233234372 rs12694901 G A 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.093 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:346:39.81:0.00:39.81:1.00:0.00:1.00:60:51.7:0:0:105:46:41:chr2 g.233234371G>A (intergenic),chr2 g.233234371G>A (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 2 233243589 . G . . NT END=233243680;NT GT ./. 2 233243660 rs2014448 T C 754 nt VT=SNV;PN=T;NN=T;SST=Single;DP=199;DB;DBA=NA;PAF=NA;Gene=ALPP/NM_001632.4/1;CC=c.77-21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:199:141:0:0:1,198:9,6601:0.04,753.91:0.04,426.24:0.00,327.67:0.00,1.00:0.00,1.00:0.00,1.00:56,60:22.0,40.1:0,0:0,0:115,60:36,90:0,36:NM_001632.3(ALPP) c.77-21T>C,NM_001632.3(ALPP) c.77-21T>C:0.92,0.92:0.946017,0.946017 2 233243798 . G . . NT END=233243909;NT GT ./. 2 233244026 . G . . NT END=233244222;NT GT ./. 2 233244398 . G . . NT END=233244473;NT GT ./. 2 233244586 rs2853374 C G 893 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=256;DB;DBA=NA;PAF=NA;Gene=ALPP/NM_001632.4/1;CC=c.597C>G;ProtCh=p.S199=;VC=Silent;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:256:153:0:0:1,1,254:11,8,7748:0.05,0.00,892.87:0.06,0.00,355.50:-0.00,0.00,537.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:59,31,60:74.0,58.0,40.4:0,0,0:0,0,0:17,103,66:123,34,78:0,0,35:NM_001632.3(ALPP) c.597C>G (p.(=)),NM_001632.3(ALPP) c.597C>G (p.(=)):0.92,0.92:0.946222,0.946222 2 233244647 . G . . NT END=233244895;NT GT ./. 2 233244861 rs2853375 G C 38 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=176;DB;DBA=NA;PAF=NA;Gene=ALPP/NM_001632.4/1;CC=c.658-35G>C;VC=Intron;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,G:176:130:0:0:18,158:543,4931:37.90,0.00:41.14,0.00:-3.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:50,60:107.6,22.8:0,0:0,0:71,66:74,77:49,32:NM_001632.3(ALPP) c.658-35G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 233244930 rs1048988 G C 382 lc VT=SNV;PN=C;NN=C;SST=Single;DP=237;DB;DBA=NA;PAF=NA;PC=0.991;Gene=ALPP/NM_001632.4/1;CC=c.692G>C;ProtCh=p.R231P;VC=Missense;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:237:180:0:0:127,109,1:3920,3405,24:382.00,0.00,0.41:247.81,0.00,0.50:134.19,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,52:51.8,11.1,44.0:0,0,0:0,0,0:47,54,136:104,96,6:33,30,0:NM_001632.3(ALPP) c.692G>C (p.Arg231Pro),-:0.14,-:0.189846,- 2 233244937 rs1048989 A G 97 lc VT=SNV;PN=G;NN=A;SST=Single;DP=249;DB;DBA=NA;PAF=NA;Gene=ALPP/NM_001632.4/1;CC=c.699A>G;ProtCh=p.G233=;VC=Silent;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:249:187:0:0:208,1,40:6456,11,1256:0.00,-0.31,97.22:0.00,-0.19,82.14:0.00,-0.11,15.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,57,60:23.7,92.0,74.9:0,0,0:0,0,0:63,27,25:86,124,125:34,0,17:-,NM_001632.3(ALPP) c.699A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 233245031 . G . . NT END=233245129;NT GT ./. 2 233245090 rs2260307 A G 203 nt VT=SNV;PN=C;NN=G;SST=Single;DP=307;DB;DBA=NA;PAF=NA;NP=2889;Gene=ALPP/NM_001632.4/1;CC=c.793-40A>G;VC=Intron;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,D:307:207:0:1:226,1,79,1:7340,9,2408,34:0.00,-0.27,202.75,1.08:0.00,-0.13,111.74,1.22:0.00,-0.14,91.01,-0.14:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:26.5,72.0,95.7,0.0:0,0,0,0:0,0,0,0:66,147,68,114:84,4,81,37:40,0,34,0:-,NM_001632.3(ALPP) c.793-40A>G:-,NOT_FOUND:-,NOT_FOUND 2 233245141 rs2260309 T C 221 lc VT=SNV;PN=A;NN=G;SST=Single;DP=329;DB;DBA=NA;PAF=NA;Gene=ALPP/NM_001632.4/1;CC=c.804T>C;ProtCh=p.Y268=;VC=Silent;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:329:212:0:0:1,82,1,245:21,2614,12,7714:0.01,220.64,-0.27,0.00:-0.15,119.17,-0.15,0.00:0.16,101.48,-0.12,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:45,60,53,60:188.0,85.8,102.0,18.8:0,0,0,0:0,0,0,0:77,91,52,61:66,59,99,78:0,33,0,38:NM_001632.3(ALPP) c.804T>C (p.(=)),-:0.6,-:0.550131,- 2 233245203 . G . . NT END=233245332;NT GT ./. 2 233245210 rs13034594 C T 208 nt VT=SNV;PN=A;NN=C;SST=Single;DP=297;DB;DBA=NA;PAF=NA;Gene=ALPP/NM_001632.4/1;CC=c.865+8C>T;VC=Intron;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:297:191:0:0:217,80:6660,2451:0.00,208.19:0.00,110.43:0.00,97.76:0.00,1.00:0.00,1.00:0.00,1.00:60,51:16.0,61.6:0,0:0,0:85,70:60,81:34,39:-,NM_001632.3(ALPP) c.865+8C>T:-,NOT_FOUND:-,NOT_FOUND 2 233245468 . G . . NT END=233245549;NT GT ./. 2 233245742 . G . . NT END=233245960;NT GT ./. 2 233245958 rs200610301 C A 180 nt VT=SNV;PN=G;NN=A;SST=Single;DP=174;DB;DBA=NA;PAF=NA;PC=0.331;Gene=ALPP/NM_001632.4/1;CC=c.1193-3C>A;VC=Intergenic;DM=ALPP/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:174:137:0:0:63,111:1994,3648:179.99,0.00:108.83,0.00:71.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,50:43.3,14.0:0,0:0,0:42,38:108,110:30,28:NM_001632.3(ALPP) c.1193-3C>A,-:NOT_FOUND,-:0.138528,- 2 233246078 . G . . NT END=233246206;NT GT ./. 2 233246506 . G . . NT END=233271604;NT GT ./. 2 233251534 rs73001992 C A 75 nt VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.228;Gene=ECEL1P2/NR_028501.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:46:26:0:0:24,22:771,693:74.72,0.00:30.84,0.00:43.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.2,11.3:0,0:0,0:109,83:41,68:21,35:NR_028501.1(ECEL1P2) n.221G>T,-:0.11,-:NOT_FOUND,- 2 233271672 . G . . NT END=233271766;NT GT ./. 2 233271697 rs3833560 TAC T 209 idl,rn VT=DEL;SST=Single;DP=192;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=932;PC=0.016;Gene=ALPPL2/NM_031313.2/1;CC=c.67+44_67+45delCA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,TAC,T:186:141:0:85:1,106,79:7,3171,2453:-0.21,0.00,209.37:-0.10,0.00,140.60:-0.11,0.00,68.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:28.0,16.7,13.3:0,1,6:0,0,0:150,86,67:1,63,78:0,40,30:-,NM_031313.2(ALPPL2) c.67+27_67+28delAC:-,NOT_FOUND:-,NOT_FOUND 2 233271884 . G . . NT END=233271995;NT GT ./. 2 233272112 . G . . NT END=233272303;NT GT ./. 2 233272162 rs2678517 G A 118 nt VT=SNV;PN=G;NN=C;SST=Single;DP=109;DB;DBA=NA;PAF=NA;Gene=ALPPL2/NM_031313.2/1;CC=c.300+51G>A;VC=Intron;DM=ALPPL2/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:109:50:0:0:41,68:1298,2164:118.05,0.00:57.95,0.00:60.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,6.3:0,0:0,0:83,85:68,65:36,38:NM_031313.2(ALPPL2) c.300+51G>A,-:0.22,-:0.257576,- 2 233272479 . G . . NT END=233272554;NT GT ./. 2 233272528 rs6728119 G T 392 nt VT=SNV;PN=C;NN=C;SST=Single;DP=242;DB;DBA=NA;PAF=NA;Gene=ALPPL2/NM_031313.2/1;CC=c.476-27G>T;VC=Intron;DM=ALPPL2/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:242:127:0:0:119,123:3807,4058:0.00,391.69:0.00,158.03:0.00,233.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,43.9:0,0:0,0:74,89:76,59:43,35:-,NM_031313.2(ALPPL2) c.476-27G>T:-,0.1:-,0.143549 2 233272728 . G . . NT END=233272976;NT GT ./. 2 233272925 rs2678518 A G 206 nt VT=SNV;PN=G;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=NA;Gene=ALPPL2/NM_031313.2/1;CC=c.649-52A>G;VC=Intron;DM=ALPPL2/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:148:93:0:0:80,68:2434,2179:0.00,205.97:0.00,78.09:0.00,127.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.9,51.3:0,0:0,0:57,57:86,91:35,33:-,NM_031313.2(ALPPL2) c.649-52A>G:-,NOT_FOUND:-,0.26962 2 233273107 rs1130346 A G 36 lc VT=SNV;PN=C;NN=C;SST=Single;DP=157;DB;DBA=NA;PAF=NA;Gene=ALPPL2/NM_031313.2/1;CC=c.779A>G;ProtCh=p.H260R;VC=Missense;DM=ALPPL2/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,C,G,T:157:103:0:0:140,1,15,1:4241,9,503,13:0.00,-0.32,36.09,-0.24:0.00,-0.21,4.29,-0.08:0.00,-0.11,31.79,-0.16:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,45,60:12.2,190.0,58.6,42.0:0,0,0,0:0,0,0,0:78,68,131,0:66,83,18,151:32,0,7,0:-,NM_031313.2(ALPPL2) c.779A>G (p.His260Arg):-,0.16:-,NOT_FOUND 2 233273112 . G . . NT END=233273210;NT GT ./. 2 233273284 . G . . NT END=233273413;NT GT ./. 2 233273504 rs183793479 T G 58 sb,lc VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=ALPPL2/NM_031313.2/1;CC=c.947T>G;ProtCh=p.L316R;VC=Missense;DM=ALPPL2/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G,T:19:2:0:0:16,3:539,36:58.08,0.00:-1.49,0.00:59.57,0.00:1.00,0.00:0.98,0.00:1.00,0.00:42,27:44.8,51.0:0,0:0,0:95,77:43,74:49,3:NM_031313.2(ALPPL2) c.947T>G (p.Leu316Arg),NM_031313.2(ALPPL2) c.947T>G (p.Leu316Arg):0.52,0.52:NOT_FOUND,NOT_FOUND 2 233273549 . G . . NT END=233273630;NT GT ./. 2 233273823 . G . . NT END=233274041;NT GT ./. 2 233274145 rs2090543 G C 261 lc VT=SNV;PN=C;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=ALPPL2/NM_031313.2/1;CC=c.1287G>C;ProtCh=p.T429=;VC=Silent;DM=ALPPL2/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:A,C,G,T:78:63:0:0:2,74,1,1:23,2288,7,11:0.60,261.34,0.00,0.15:0.21,194.08,0.00,0.15:0.39,67.26,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:27,60,50,3:96.5,55.9,0.0,60.0:0,0,0,0:0,0,0,0:55,63,92,89:95,88,57,41:39,34,0,0:NM_031313.2(ALPPL2) c.1287G>C (p.(=)),NM_031313.2(ALPPL2) c.1287G>C (p.(=)):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 233274159 . G . . NT END=233274283;NT GT ./. 2 233274169 rs2091555 T C 108 nt VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;Gene=ALPPL2/NM_031313.2/1;CC=c.1300+11T>C;VC=Intron;DM=ALPPL2/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:91:73:0:0:36,5,50:1161,54,1490:107.88,1.04,0.00:84.54,0.70,0.00:23.33,0.34,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:65.4,81.0,36.1:0,0,0:0,0,0:40,116,72:110,35,77:26,15,30:NM_031313.2(ALPPL2) c.1300+11T>C,-:0.11,-:NOT_FOUND,- 2 233274583 . G . . NT END=233320909;NT GT ./. 2 233283074 rs13003548 G A 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:9:9:0:0:6,3:179,104:18.27,0.00:18.51,0.00:-0.24,0.00:0.99,0.00:0.99,0.00:0.78,0.00:60,60:50.3,0.0:0,0:0,0:36,17:113,132:21,13:chr2 g.233283073G>A (intergenic),-:0.18,-:NOT_FOUND,- 2 233306551 rs112078298 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:8:8:0:0:5,3:161,93:16.19,0.00:14.25,0.00:1.94,0.00:0.97,0.00:0.97,0.00:0.75,0.00:60,60:66.6,68.7:0,0:0,0:29,46:121,105:15,20:chr2 g.233306550G>A (intergenic),-:0.1,-:NOT_FOUND,- 2 233306647 rs790026 C G 100 nt VT=SNV;PN=G;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:28:0:0:28:863:99.62:97.58:2.04:1.00:1.00:1.00:60:44.9:0:0:44:105:36:chr2 g.233306646C>G (intergenic),chr2 g.233306646C>G (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 2 233306836 rs790027 A G 234 nt VT=SNV;PN=G;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:G:62:37:0:0:62:2045:234.02:88.22:145.80:1.00:1.00:1.00:60:50.2:0:0:89:56:23:chr2 g.233306835A>G (intergenic),chr2 g.233306835A>G (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 2 233306896 rs790028 A G 128 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:8:0:0:36:1113:128.30:14.73:113.57:1.00:1.00:1.00:60:65.0:0:0:99:51:27:chr2 g.233306895A>G (intergenic),chr2 g.233306895A>G (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 2 233307002 rs790029 T A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:267:31.39:0.00:31.39:1.00:0.00:1.00:60:52.9:0:0:115:36:17:chr2 g.233307001T>A (intergenic),chr2 g.233307001T>A (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 2 233309977 rs790042 T C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:2:0:0:7:196:22.88:5.62:17.26:1.00:1.00:1.00:60:87.9:0:0:28:123:8:chr2 g.233309976T>C (intergenic),chr2 g.233309976T>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 2 233310014 rs67171963 C T 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:11:0:0:8,9:239,280:0.00,27.17:0.00,9.82:0.00,17.34:0.00,1.00:0.00,1.00:0.00,0.99:60,60:53.8,72.6:0,0:0,0:21,57:130,92:12,21:-,chr2 g.233310013C>T (intergenic):-,0.18:-,NOT_FOUND 2 233310058 rs790043 C T 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:14:0:0:13,8:415,267:0.00,24.46:0.00,19.49:0.00,4.97:0.00,0.99:0.00,1.00:0.00,0.98:60,60:40.2,61.1:0,0:0,0:70,58:70,93:33,12:-,chr2 g.233310057C>T (intergenic):-,0.54:-,NOT_FOUND 2 233310149 rs790044 A G 45 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:41:0:0:28,17:917,495:0.00,44.65:0.00,34.54:0.00,10.11:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.7,44.5:0,0:0,0:43,42:106,109:26,29:-,chr2 g.233310148A>G (intergenic):-,0.57:-,NOT_FOUND 2 233310297 rs796887 T C 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;PC=0.392 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:81:52:0:0:27,3,51:834,47,1590:74.42,1.45,0.00:41.39,1.91,0.00:33.04,-0.47,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:44,51,60:55.1,47.3,9.1:0,0,0:0,0,0:76,71,60:67,80,88:34,42,23:chr2 g.233310296T>C (intergenic),-:0.55,-:NOT_FOUND,- 2 233310369 rs790045 T C 86 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:44:0:0:31,53:955,1620:86.21,0.00:36.13,0.00:50.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,60:74.1,10.0:0,0:0,0:71,101:80,44:31,31:chr2 g.233310368T>C (intergenic),-:0.39,-:NOT_FOUND,- 2 233310423 rs814220 C T 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:20:0:0:32,24:952,666:0.00,61.38:0.00,19.87:0.00,41.51:0.00,1.00:0.00,1.00:0.00,1.00:60,43:12.7,84.8:0,1:0,0:96,98:53,53:29,25:-,chr2 g.233310422C>T (intergenic):-,0.55:-,NOT_FOUND 2 233310491 rs809327 C T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:2:0:0:16,10:419,293:0.00,26.61:0.00,4.79:0.00,21.82:0.00,1.00:0.00,0.68:0.00,1.00:60,43:11.9,99.4:1,0:0,0:117,136:34,13:19,14:-,chr2 g.233310490C>T (intergenic):-,0.53:-,NOT_FOUND 2 233311489 rs790049 C G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.094 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:5:0:0:1,4:35,133:0.00,14.12:0.00,14.12:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:36.0,36.0:0,0:0,0:59,7:92,144:0,5:-,chr2 g.233311488C>G (intergenic):-,0.45:-,NOT_FOUND 2 233311824 rs7568055 A T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,T:9:9:0:0:6,3:187,98:0.00,8.74:0.00,7.14:0.00,1.60:0.00,0.96:0.00,0.96:0.00,0.56:60,60:52.2,133.0:0,0:0,0:17,48:134,103:8,47:-,chr2 g.233311823A>T (intergenic):-,0.47:-,NOT_FOUND 2 233311905 rs114697746 G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:23:22:0:0:3,20:101,638:7.67,0.00:4.95,0.00:2.72,0.00:0.47,0.00:0.89,0.00:0.69,0.00:60,60:167.7,41.0:0,0:0,0:82,58:68,86:47,23:chr2 g.233311904G>A (intergenic),-:0.19,-:NOT_FOUND,- 2 233311907 rs2678506 A C 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,C:23:22:0:0:19,4:610,114:0.00,8.71:0.00,6.06:0.00,2.64:0.00,0.69:0.00,0.96:0.00,0.80:60,60:40.7,137.2:0,0:0,0:65,55:84,95:18,32:-,chr2 g.233311906A>C (intergenic):-,0.58:-,NOT_FOUND 2 233311908 rs2741262 T C 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:C,T:23:22:0:0:3,20:97,655:7.27,0.00:4.85,0.00:2.42,0.00:0.47,0.00:0.89,0.00:0.69,0.00:60,60:167.7,40.6:0,0:0,0:85,56:65,85:47,22:chr2 g.233311907T>C (intergenic),-:0.58,-:NOT_FOUND,- 2 233311919 rs13408133 T C 73 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:25:23:0:0:20,5:687,137:72.81,0.00:56.70,0.00:16.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,113.4:0,0:0,0:78,31:69,118:17,30:chr2 g.233311918T>C (intergenic),-:0.3,-:NOT_FOUND,- 2 233312044 rs2853409 C T 46 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.213 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:1:0:0:12:403:46.02:1.79:44.23:1.00:1.00:1.00:60:36.1:0:0:106:43:11:chr2 g.233312043C>T (intergenic),chr2 g.233312043C>T (intergenic):0.68,0.68:NOT_FOUND,NOT_FOUND 2 233312451 rs1713296 A G 85 nt VT=SNV;PN=G;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.134 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:50:0:0:36,28:1156,903:0.00,84.59:0.00,38.51:0.00,46.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,38.2:0,0:0,0:43,31:103,114:29,18:-,chr2 g.233312450A>G (intergenic):-,0.67:-,NOT_FOUND 2 233321176 . G . . NT END=233321289;NT GT ./. 2 233321406 . G . . NT END=233321608;NT GT ./. 2 233321784 . G . . NT END=233321859;NT GT ./. 2 233322033 . G . . NT END=233322274;NT GT ./. 2 233322410 . G . . NT END=233322504;NT GT ./. 2 233322578 . G . . NT END=233322707;NT GT ./. 2 233322843 . G . . NT END=233322926;NT GT ./. 2 233322875 rs2272421 C T 391 nt VT=SNV;PN=G;NN=G;SST=Single;DP=264;DB;DBA=NA;PAF=NA;Gene=ALPI/NM_001631.4/1;CC=c.991+33C>T;VC=Intron;DM=ALPI/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:264:162:0:0:1,131,1,131:14,4229,12,4071:-0.12,0.00,-0.16,390.53:-0.10,0.00,-0.03,164.05:-0.02,0.00,-0.13,226.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:63.0,7.1,50.0,38.4:0,0,0,0:0,0,0,0:4,90,128,88:147,59,22,63:0,31,0,29:-,NM_001631.3(ALPI) c.991+33C>T:-,0.09:-,0.120329 2 233323119 . G . . NT END=233323341;NT GT ./. 2 233323177 rs2003780 T C 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=ALPI/NM_001631.4/1;CC=c.1183+59T>C;VC=Intron;DM=ALPI/Alk_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:19:0:0:28,41:882,1323:81.32,0.00:21.90,0.00:59.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,3.7:0,0:0,0:104,100:47,48:28,31:NM_001631.3(ALPI) c.1183+59T>C,-:0.67,-:NOT_FOUND,- 2 233323459 . G . . NT END=233323569;NT GT ./. 2 233323857 . G . . NT END=233344862;NT GT ./. 2 233336098 . TCA T 9 sb,rn VT=DEL;SST=Single;DP=6;NP=9;PC=0.047;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:TCA,I,T:5:5:1:4:1,1,3:34,34,119:0.00,3.02,8.72:0.00,1.47,1.34:0.00,1.55,7.39:0.00,0.00,0.73:0.00,0.00,0.96:0.00,0.00,0.96:60,60,60:28.0,32.0,36.7:0,0,1:0,0,0:142,41,60:8,61,91:0,0,20:-,chr2 g.233336099_233336100delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 233344963 . C . . NT END=233345108;NT GT ./. 2 233345186 . C . . NT END=233345427;NT GT ./. 2 233345249 rs1190432 C A 114 nt VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=NA;Gene=ECEL1/NM_001290787.1/0;CC=c.2146-64G>T;VC=Intron;Gene=ECEL1/NM_004826.3/1;CC=c.2152-64G>T;VC=Intron;DM=ECEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:82:41:0:0:42,40:1189,1222:114.09,0.00:39.32,0.00:74.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,13.6:0,0:0,0:106,105:41,44:22,27:NM_004826.2(ECEL1) c.2152-64G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 233345524 . C . . NT END=233345800;NT GT ./. 2 233345867 . C . . NT END=233346215;NT GT ./. 2 233345950 rs6713332 A G 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=ECEL1/NM_001290787.1/0;CC=c.1984-84T>C;VC=Intron;Gene=ECEL1/NM_004826.3/1;CC=c.1990-84T>C;VC=Intron;DM=ECEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:25:0:0:29,14:920,482:0.00,43.10:0.00,20.27:0.00,22.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,43.2:0,0:0,0:112,104:35,45:31,37:-,NM_004826.2(ECEL1) c.1990-84T>C:-,0.01:-,NOT_FOUND 2 233346341 . C . . NT END=233346491;NT GT ./. 2 233346381 rs11285283 GC G 156 nt VT=DEL;SST=Single;DP=132;DB;DBA=NA;PAF=NA;NP=1074;Gene=ECEL1/NM_001290787.1/0;CC=c.1859-42delG;VC=Intron;Gene=ECEL1/NM_004826.3/1;CC=c.1865-42delG;VC=Intron;DM=ECEL1/Peptidase_M13;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:132:70:0:55:78,54:2277,1689:0.00,155.97:0.00,53.62:0.00,102.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.9,20.4:0,0:0,0:103,59:38,86:35,29:-,NM_004826.2(ECEL1) c.1865-42delG:-,0.22:-,0.174948 2 233346560 . C . . NT END=233347127;NT GT ./. 2 233346662 rs909432 A C 182 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=ECEL1/NM_001290787.1/0;CC=c.1791-103T>G;VC=Intron;Gene=ECEL1/NM_004826.3/1;CC=c.1797-103T>G;VC=Intron;DM=ECEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:12:0:0:51:1575:181.74:24.25:157.49:1.00:1.00:1.00:60:36.0:0:0:116:35:25:NM_004826.2(ECEL1) c.1797-103T>G,NM_004826.2(ECEL1) c.1797-103T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 2 233346851 rs1190430 C A,T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;DM=ECEL1/Peptidase_M13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,T:4:1:0:0:1,3:10,98:0.88,10.86:0.00,3.45:0.88,7.40:0.00,0.85:0.00,0.83:0.00,0.99:60,60:84.0,32.7:0,0:0,0:38,75:110,75:0,0:NM_004826.2(ECEL1) c.1796+277G>T,NM_004826.2(ECEL1) c.1796+277G>A:NOT_FOUND,0.46:NOT_FOUND,NOT_FOUND 2 233347180 . C . . NT END=233347259;NT GT ./. 2 233347319 . C . . NT END=233347560;NT GT ./. 2 233347665 . C . . NT END=233347814;NT GT ./. 2 233347890 . C . . NT END=233348125;NT GT ./. 2 233347919 rs6750085 C G 351 nt VT=SNV;PN=A;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=ECEL1/NM_001290787.1/0;CC=c.1507-30G>C;VC=Intron;Gene=ECEL1/NM_004826.3/1;CC=c.1507-30G>C;VC=Intron;DM=ECEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:90:49:0:0:90:3081:350.95:124.03:226.92:1.00:1.00:1.00:60:47.7:0:0:96:51:32:NM_004826.2(ECEL1) c.1507-30G>C,NM_004826.2(ECEL1) c.1507-30G>C:0.34,0.34:0.362117,0.362117 2 233348225 . C . . NT END=233348710;NT GT ./. 2 233348851 rs41265123 C G 211 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=164;DB;DBA=in-clinvar;PAF=NA;PC=1.000;Gene=ECEL1/NM_001290787.1/0;CC=c.1267G>C;ProtCh=p.E423Q;VC=Missense;Gene=ECEL1/NM_004826.3/1;CC=c.1267G>C;ProtCh=p.E423Q;VC=Missense;DM=ECEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:164:121:0:0:1,91,72:13,2962,2251:-0.11,0.00,210.77:-0.13,0.00,109.91:0.02,0.00,100.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:47.0,12.0,36.0:0,0,0:0,0,0:56,80,74:95,68,70:0,36,40:-,NM_004826.2(ECEL1) c.1267G>C (p.Glu423Gln):-,0.01:-,0.015454 2 233348934 . C . . NT END=233349181;NT GT ./. 2 233349307 . C . . NT END=233349510;NT GT ./. 2 233349588 rs1529874 G A 345 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=102;DB;DBA=in-clinvar;PAF=NA;PC=1.000;Gene=ECEL1/NM_001290787.1/0;CC=c.982C>T;ProtCh=p.H328Y;VC=Missense;Gene=ECEL1/NM_004826.3/1;CC=c.982C>T;ProtCh=p.H328Y;VC=Missense;DM=ECEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:102:66:0:0:102:2966:344.55:173.94:170.60:1.00:1.00:1.00:60:33.1:0:0:90:58:36:NM_004826.2(ECEL1) c.982C>T (p.His328Tyr),NM_004826.2(ECEL1) c.982C>T (p.His328Tyr):0.97,0.97:0.958019,0.958019 2 233349604 . C . . NT END=233349690;NT GT ./. 2 233349802 . C . . NT END=233349908;NT GT ./. 2 233349978 . C . . NT END=233350577;NT GT ./. 2 233350000 rs2573246 C G 241 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=ECEL1/NM_001290787.1/0;CC=c.787-23G>C;VC=Intron;Gene=ECEL1/NM_004826.3/1;CC=c.787-23G>C;VC=Intron;DM=ECEL1/Peptidase_M13_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:G:62:36:0:0:62:2118:241.37:86.49:154.88:1.00:1.00:1.00:60:42.8:0:0:106:35:20:NM_004826.2(ECEL1) c.787-23G>C,NM_004826.2(ECEL1) c.787-23G>C:0.68,0.68:0.64747,0.64747 2 233351364 . G . . NT END=233385308;NT GT ./. 2 233385202 rs2741294 C T 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.-107C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:10,8:302,262:0.00,24.65:0.00,24.65:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:4.7,34.1:0,0:0,0:53,40:97,111:25,25:-,NM_001195129.1(PRSS56) c.-107C>T:-,0.32:-,NOT_FOUND 2 233385396 rs1550094 G A 168 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.013;Gene=PRSS56/NM_001195129.1/1;CC=c.88G>A;ProtCh=p.A30T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:A:46:30:0:0:46:1465:168.36:67.04:101.32:1.00:1.00:1.00:60:40.9:0:0:94:55:30:NM_001195129.1(PRSS56) c.88G>A (p.Ala30Thr),NM_001195129.1(PRSS56) c.88G>A (p.Ala30Thr):0.69,0.69:NOT_FOUND,NOT_FOUND 2 233385406 . G . . NT END=233386030;NT GT ./. 2 233386139 . G . . NT END=233386525;NT GT ./. 2 233386229 rs2853444 T C 128 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.205+91T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:C:37:3:0:0:37:1107:128.18:9.14:119.03:1.00:1.00:1.00:60:45.2:0:0:120:31:22:NM_001195129.1(PRSS56) c.205+91T>C,NM_001195129.1(PRSS56) c.205+91T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 233386328 rs2741295 C T 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.205+190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:15:10:0:0:4,11:134,335:0.00,34.97:0.00,21.87:0.00,13.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.5,58.1:0,0:0,0:58,42:92,107:7,21:-,NM_001195129.1(PRSS56) c.205+190C>T:-,0.19:-,NOT_FOUND 2 233386577 . G . . NT END=233386680;NT GT ./. 2 233386583 rs2853445 T C 176 nt VT=SNV;PN=G;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.256+7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:103:77:0:0:55,48:1811,1519:176.40,0.00:106.21,0.00:70.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.0,5.6:0,0:0,0:97,84:51,66:35,36:NM_001195129.1(PRSS56) c.256+7T>C,-:0.43,-:NOT_FOUND,- 2 233386871 . G . . NT END=233387224;NT GT ./. 2 233387007 rs2741297 A G 83 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.446+137A>G;VC=Intron;DM=PRSS56/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:6:0:0:25:708:82.64:18.64:64.00:1.00:1.00:1.00:60:46.0:0:0:91:58:32:NM_001195129.1(PRSS56) c.446+137A>G,NM_001195129.1(PRSS56) c.446+137A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 233387325 . G . . NT END=233387411;NT GT ./. 2 233387572 . G . . NT END=233387769;NT GT ./. 2 233387635 rs733603 A G 323 nt VT=SNV;PN=T;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.706+64A>G;VC=Intron;DM=PRSS56/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:87:40:0:0:87:2813:322.70:130.50:192.20:1.00:1.00:1.00:60:46.6:0:0:112:39:24:NM_001195129.1(PRSS56) c.706+64A>G,NM_001195129.1(PRSS56) c.706+64A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 2 233387913 . G . . NT END=233388125;NT GT ./. 2 233388289 . G . . NT END=233388481;NT GT ./. 2 233388311 rs733602 C T 142 nt VT=SNV;PN=C;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.1012+23C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:96:53:0:0:50,46:1555,1486:0.00,141.63:0.00,62.01:0.00,79.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,46.3:0,0:0,0:94,85:44,60:29,27:-,NM_001195129.1(PRSS56) c.1012+23C>T:-,0.29:-,NOT_FOUND 2 233388656 . G . . NT END=233388748;NT GT ./. 2 233388813 rs2741299 T G 492 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PRSS56/NM_001195129.1/1;CC=c.1251T>G;ProtCh=p.P417=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:135:82:0:0:1,134:11,4294:0.09,492.45:0.09,198.32:0.00,294.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,42.1:0,0:0,0:114,69:37,80:0,35:NM_001195129.1(PRSS56) c.1251T>G (p.(=)),NM_001195129.1(PRSS56) c.1251T>G (p.(=)):0.84,0.84:NOT_FOUND,NOT_FOUND 2 233388914 . G . . NT END=233389016;NT GT ./. 2 233389080 . G . . NT END=233389447;NT GT ./. 2 233389167 rs58091792 G C 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.1414+88G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:40:14:0:0:19,21:574,625:54.46,0.00:14.27,0.00:40.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,8.7:0,0:0,0:108,92:43,57:26,32:NM_001195129.1(PRSS56) c.1414+88G>C,-:0.28,-:NOT_FOUND,- 2 233389326 rs2853446 C T 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.1415-122C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:14:0:0:18:493:57.75:47.13:10.63:1.00:1.00:1.00:60:57.9:0:0:67:76:39:NM_001195129.1(PRSS56) c.1415-122C>T,NM_001195129.1(PRSS56) c.1415-122C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 2 233389555 . G . . NT END=233389925;NT GT ./. 2 233389918 rs2853447 A G 312 nt VT=SNV;PN=C;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=NA;Gene=PRSS56/NM_001195129.1/1;CC=c.1522-8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:91:82:0:0:1,90:12,2699:0.17,311.90:0.00,225.57:0.17,86.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:187.0,44.2:0,0:0,0:31,42:118,104:0,26:NM_001195129.1(PRSS56) c.1522-8A>G,NM_001195129.1(PRSS56) c.1522-8A>G:0.7,0.7:NOT_FOUND,NOT_FOUND 2 233390217 . G . . NT END=233390925;NT GT ./. 2 233390937 rs2245601 A G 405 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=117;DB;DBA=in-clinvar;PAF=NA;Gene=CHRND/NM_000751.2/1;CC=c.12A>G;ProtCh=p.P4=;VC=Silent;Gene=CHRND/NM_001256657.1/0;CC=c.12A>G;ProtCh=p.P4=;VC=Silent;Gene=CHRND/NM_001311195.1/0;CC=c.-260A>G;VC=5UTR;Gene=CHRND/NM_001311196.1/0;CC=c.-260A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:117:89:0:0:1,116:35,3526:0.00,405.07:0.00,210.33:0.00,194.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,38.4:0,0:0,0:54,72:97,70:0,31:NM_000751.2(CHRND) c.12A>G (p.(=)),NM_000751.2(CHRND) c.12A>G (p.(=)):0.49,0.49:0.448708,0.448708 2 233390978 . G . . NT END=233391238;NT GT ./. 2 233391385 . G . . NT END=233392110;NT GT ./. 2 233391463 rs2278478 A G 69 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=CHRND/NM_000751.2/1;CC=c.198+79A>G;VC=Intron;Gene=CHRND/NM_001256657.1/0;CC=c.198+79A>G;VC=Intron;Gene=CHRND/NM_001311195.1/0;CC=c.-74+79A>G;VC=Intron;Gene=CHRND/NM_001311196.1/0;CC=c.-74+79A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:10:0:0:17,23:567,701:0.00,69.21:0.00,11.72:0.00,57.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,39.7:0,0:0,0:114,112:36,39:24,20:-,NM_000751.2(CHRND) c.198+79A>G:-,0.27:-,NOT_FOUND 2 233391881 rs4973536 G C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=CHRND/NM_000751.2/1;CC=c.199-230G>C;VC=Intron;Gene=CHRND/NM_001256657.1/0;CC=c.198+497G>C;VC=Intron;Gene=CHRND/NM_001311195.1/0;CC=c.-73-230G>C;VC=Intron;Gene=CHRND/NM_001311196.1/0;CC=c.-73-230G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,G:8:8:0:0:5,3:162,89:16.29,0.00:16.29,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:79.6,14.7:0,0:0,0:7,21:141,130:6,6:NM_000751.2(CHRND) c.199-230G>C,-:0.43,-:NOT_FOUND,- 2 233391965 rs4973537 A G 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=CHRND/NM_000751.2/1;CC=c.199-146A>G;VC=Intron;Gene=CHRND/NM_001256657.1/0;CC=c.198+581A>G;VC=Intron;Gene=CHRND/NM_001311195.1/0;CC=c.-73-146A>G;VC=Intron;Gene=CHRND/NM_001311196.1/0;CC=c.-73-146A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,G:15:14:0:0:5,10:151,269:0.00,27.51:0.00,27.99:0.00,-0.48:0.00,1.00:0.00,1.00:0.00,0.78:60,60:13.8,68.8:0,0:0,0:30,78:121,70:9,26:-,NM_000751.2(CHRND) c.199-146A>G:-,0.41:-,NOT_FOUND 2 233392020 . AAG A 8 idl,rn VT=DEL;SST=Single;DP=18;NP=61;PC=0.021;Gene=CHRND/NM_000751.2/1;CC=c.199-68_199-67delAG;VC=Intron;Gene=CHRND/NM_001256657.1/0;CC=c.198+659_198+660delAG;VC=Intron;Gene=CHRND/NM_001311195.1/0;CC=c.-73-68_-73-67delAG;VC=Intron;Gene=CHRND/NM_001311196.1/0;CC=c.-73-68_-73-67delAG;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:AAG,G,I,A:16:14:4:3:9,2,2,3:282,48,128,99:0.00,3.41,4.89,8.29:0.00,-0.43,4.91,2.43:0.00,3.85,-0.03,5.86:0.00,0.00,0.00,0.52:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.59:60,60,60,60:51.9,39.5,43.5,10.7:0,0,2,0:0,0,0,0:107,29,57,76:25,100,93,74:37,14,16,9:-,NM_000751.2(CHRND) c.199-90_199-89delAG:-,NOT_FOUND:-,NOT_FOUND 2 233392022 rs4973538 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.021;Gene=CHRND/NM_000751.2/1;CC=c.199-89G>A;VC=Intron;Gene=CHRND/NM_001256657.1/0;CC=c.198+638G>A;VC=Intron;Gene=CHRND/NM_001311195.1/0;CC=c.-73-89G>A;VC=Intron;Gene=CHRND/NM_001311196.1/0;CC=c.-73-89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:A,G:16:14:0:3:4,12:122,375:10.20,0.00:10.58,0.00:-0.37,0.00:0.75,0.00:0.96,0.00:0.69,0.00:60,60:69.5,26.9:0,4:0,0:135,50:13,87:9,31:NM_000751.2(CHRND) c.199-89G>A,-:0.11,-:NOT_FOUND,- 2 233392156 . G . . NT END=233392971;NT GT ./. 2 233393082 . G . . NT END=233393210;NT GT ./. 2 233393367 . G . . NT END=233393571;NT GT ./. 2 233393682 . G . . NT END=233394648;NT GT ./. 2 233394850 . G . . NT END=233396061;NT GT ./. 2 233395029 rs12463989 T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CHRND/NM_000751.2/1;CC=c.820+180T>C;VC=Intron;Gene=CHRND/NM_001256657.1/0;CC=c.775+180T>C;VC=Intron;Gene=CHRND/NM_001311195.1/0;CC=c.239-1033T>C;VC=Intron;Gene=CHRND/NM_001311196.1/0;CC=c.517+180T>C;VC=Intron;DM=CHRND/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:11:0:0:0:5,6:122,194:11.28,0.00:0.00,0.00:11.28,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:47.4,2.7:0,0:0,0:110,138:41,12:20,10:NM_000751.2(CHRND) c.820+180T>C,-:0.41,-:NOT_FOUND,- 2 233396174 . G . . NT END=233396251;NT GT ./. 2 233396367 . G . . NT END=233398640;NT GT ./. 2 233398497 . A AG 45 nt VT=INS;SST=Single;DP=24;NP=920;PC=0.107;Gene=CHRND/NM_000751.2/1;CC=c.1048-144_1048-143insG;VC=Intron;Gene=CHRND/NM_001256657.1/0;CC=c.1003-144_1003-143insG;VC=Intron;Gene=CHRND/NM_001311195.1/0;CC=c.466-144_466-143insG;VC=Intron;Gene=CHRND/NM_001311196.1/0;CC=c.745-144_745-143insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AG:24:24:14:0:10,14:330,451:0.00,44.70:0.00,44.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.8,7.9:0,0:0,0:52,46:98,104:36,28:-,NM_000751.2(CHRND) c.1048-144_1048-143insG:-,0.39:-,NOT_FOUND 2 233398846 . G . . NT END=233398933;NT GT ./. 2 233399053 . G . . NT END=233399839;NT GT ./. 2 233400023 . G . . NT END=233404457;NT GT ./. 2 233400074 rs2767 A G 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=CHRND/NM_000751.2/1;CC=c.*52A>G;VC=3UTR;Gene=CHRND/NM_001256657.1/0;CC=c.*52A>G;VC=3UTR;Gene=CHRND/NM_001311195.1/0;CC=c.*52A>G;VC=3UTR;Gene=CHRND/NM_001311196.1/0;CC=c.*52A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:15:0:0:22,26:643,806:0.00,78.62:0.00,14.44:0.00,64.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.2,35.0:0,0:0,0:114,107:36,43:20,22:-,NM_000751.2(CHRND) c.*52A>G:-,0.41:-,0.336084 2 233404294 rs11674608 C G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.132 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:23:0:0:15,8:484,250:0.00,22.35:0.00,22.35:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.1,63.2:0,0:0,0:58,56:91,93:25,48:-,NM_005199.4(CHRNG) c.-21-u143C>G:-,0.41:-,NOT_FOUND 2 233404334 rs59498978 C CGGGCTGGCT 25 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;PC=0.012;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,T,CGGGCTGGCT:35:34:9:0:21,5,9:610,166,289:0.00,13.37,25.19:0.00,13.46,25.38:0.00,-0.09,-0.18:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.54:60,60,60:15.0,46.0,30.3:0,0,0:0,0,0:75,9,41:73,142,110:44,3,16:-,NM_005199.4(CHRNG) c.-21-u103_-21-u102insGGGCTGGCT:-,0.27:-,NOT_FOUND 2 233404513 . G . . NT END=233404701;NT GT ./. 2 233404590 rs12996322 G C 140 nt VT=SNV;PN=G;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=CHRNG/NM_005199.4/1;CC=c.55+78G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:81:52:0:0:43,38:1435,1126:139.72,0.00:78.82,0.00:60.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,19.1:0,0:0,0:72,58:79,93:49,45:NM_005199.4(CHRNG) c.55+78G>C,-:0.35,-:NOT_FOUND,- 2 233404842 . G . . NT END=233405090;NT GT ./. 2 233405136 . G . . NT END=233405311;NT GT ./. 2 233405422 . G . . NT END=233406083;NT GT ./. 2 233405830 rs13003665 G T 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CHRNG/NM_005199.4/1;CC=c.351-254G>T;VC=Intron;DM=CHRNG/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:G,T:10:10:0:1:6,4:188,128:0.00,11.79:0.00,11.79:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:4.3,50.5:0,0:0,0:52,33:98,118:32,16:-,NM_005199.4(CHRNG) c.351-254G>T:-,0.36:-,NOT_FOUND 2 233406240 . G . . NT END=233407132;NT GT ./. 2 233406998 rs1881492 T G 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=CHRNG/NM_005199.4/1;CC=c.507-135T>G;VC=Intron;DM=CHRNG/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:283:32.12:32.12:0.00:1.00:1.00:0.00:60:39.6:0:0:38:112:10:NM_005199.4(CHRNG) c.507-135T>G,NM_005199.4(CHRNG) c.507-135T>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 233407120 rs2853462 C T 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=CHRNG/NM_005199.4/1;CC=c.507-13C>T;VC=Intron;DM=CHRNG/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:30:0:0:22,16:706,514:0.00,47.80:0.00,32.20:0.00,15.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,36.8:0,0:0,0:38,55:104,95:23,30:-,NM_005199.4(CHRNG) c.507-13C>T:-,0.2:-,0.203983 2 233407231 . G . . NT END=233407591;NT GT ./. 2 233407411 rs6761667 T A 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=CHRNG/NM_005199.4/1;CC=c.604+181T>A;VC=Intron;DM=CHRNG/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:15:11:0:0:8,7:255,228:24.81,0.00:16.10,0.00:8.71,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:41.9,24.9:0,0:0,0:79,40:71,111:41,23:NM_005199.4(CHRNG) c.604+181T>A,-:0.48,-:NOT_FOUND,- 2 233407516 rs2697782 G C 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CHRNG/NM_005199.4/1;CC=c.605-76G>C;VC=Intron;DM=CHRNG/Neur_chan_LBD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:42:40:0:0:24,18:809,582:79.91,0.00:66.16,0.00:13.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,13.5:0,0:0,0:49,40:101,111:32,24:NM_005199.4(CHRNG) c.605-76G>C,-:0.34,-:NOT_FOUND,- 2 233407793 . G . . NT END=233407984;NT GT ./. 2 233408100 . G . . NT END=233408294;NT GT ./. 2 233408190 rs60960955 A AC 33 rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=249;Gene=CHRNG/NM_005199.4/1;CC=c.921-97dupC;VC=Intron;DM=CHRNG/Neur_chan_memb;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AC,D:39:15:12:1:25,1,12,1:656,33,375,32:0.00,1.91,33.11,1.81:0.00,-0.04,30.29,2.06:0.00,1.95,2.83,-0.24:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:24.1,109.0,39.4,34.0:1,1,0,0:0,0,0,0:105,132,62,22:45,19,89,128:33,0,38,0:-,NM_005199.4(CHRNG) c.920+91_920+92insC:-,NOT_FOUND:-,NOT_FOUND 2 233408220 rs398091155 AG A 123 rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2257;PC=0.111;Gene=CHRNG/NM_005199.4/1;CC=c.921-68delG;VC=Intron;DM=CHRNG/Neur_chan_memb;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:AG,A:37:20:0:36:1,36:28,1079:0.00,123.06:0.00,64.75:0.00,58.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,45.1:0,0:0,0:148,63:3,88:0,47:NM_005199.4(CHRNG) c.921-74delG,NM_005199.4(CHRNG) c.921-74delG:0.98,0.98:NOT_FOUND,NOT_FOUND 2 233408239 rs2573206 C G 126 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=CHRNG/NM_005199.4/1;CC=c.921-56C>G;VC=Intron;DM=CHRNG/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:21:0:0:35:1094:126.04:63.84:62.21:1.00:1.00:1.00:60:52.1:0:0:59:91:36:NM_005199.4(CHRNG) c.921-56C>G,NM_005199.4(CHRNG) c.921-56C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 2 233408283 rs13018423 C T 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=CHRNG/NM_005199.4/1;CC=c.921-12C>T;VC=Intron;DM=CHRNG/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:29:0:0:17,22:520,751:0.00,74.01:0.00,38.77:0.00,35.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.8,57.7:0,0:0,0:76,65:75,84:39,37:-,NM_005199.4(CHRNG) c.921-12C>T:-,0.31:-,0.218284 2 233408410 . G . . NT END=233409076;NT GT ./. 2 233409013 rs2250451 G A 49 nt VT=SNV;PN=C;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=CHRNG/NM_005199.4/1;CC=c.1036-64G>A;VC=Intron;DM=CHRNG/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:27:0:0:15,13:501,371:48.90,0.00:39.07,0.00:9.83,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:44.7,9.2:0,0:0,0:42,41:109,107:13,12:NM_005199.4(CHRNG) c.1036-64G>A,-:0.2,-:NOT_FOUND,- 2 233409291 . G . . NT END=233409481;NT GT ./. 2 233409613 . G . . NT END=233410252;NT GT ./. 2 233410043 rs744159 G A 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.134;Gene=CHRNG/NM_005199.4/1;CC=c.1381-210G>A;VC=Intron;DM=CHRNG/Neur_chan_memb GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:6:6:0:0:3,3:74,98:7.00,0.00:7.00,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:28.7,0.0:0,0:0,0:24,16:127,131:7,9:NM_005199.4(CHRNG) c.1381-210G>A,-:0.36,-:NOT_FOUND,- 2 233410072 rs5839437 CA C 11 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=20;Gene=CHRNG/NM_005199.4/1;CC=c.1381-180delA;VC=Intron;DM=CHRNG/Neur_chan_memb;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:CA,C:8:8:0:4:4,4:138,117:0.00,11.20:0.00,11.20:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:5.0,21.5:0,0:0,0:37,49:111,99:12,17:-,NM_005199.4(CHRNG) c.1381-180delA:-,0.27:-,NOT_FOUND 2 233410427 . G . . NT END=233415434;NT GT ./. 2 233415455 . G . . NT END=233421125;NT GT ./. 2 233421241 . G . . NT END=233422593;NT GT ./. 2 233421284 rs397740637 CT C 53 nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2383;Gene=EIF4E2/NM_004846.3/0;CC=c.135+48delT;VC=Intron;Gene=EIF4E2/NM_001276336.1/0;CC=c.135+48delT;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.135+48delT;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.135+48delT;VC=Intron;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:33:8:0:17:16,17:544,551:0.00,53.28:0.00,2.08:0.00,51.20:0.00,1.00:0.00,0.99:0.00,1.00:60,60:1.6,4.2:0,0:0,0:113,97:38,53:31,20:-,NM_004846.2(EIF4E2) c.135+45delT:-,0.78:-,0.775256 2 233422729 . G . . NT END=233428956;NT GT ./. 2 233429062 . G . . NT END=233431538;NT GT ./. 2 233429144 rs72497300 GTATTT G 22 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=96;PC=0.091;Gene=EIF4E2/NM_004846.3/0;CC=c.375+114_375+118delTATTT;VC=Intron;Gene=EIF4E2/NM_001276336.1/0;CC=c.375+114_375+118delTATTT;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.240+114_240+118delTATTT;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.375+114_375+118delTATTT;VC=Intron;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;DM=EIF4E2/IF4E;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:GTATTT,I,G:36:1:6:8:22,6,8:688,199,255:0.00,16.36,21.69:0.00,-0.04,-0.05:0.00,16.40,21.75:0.00,0.00,0.98:0.00,0.00,0.48:0.00,0.00,0.98:60,60,60:8.2,0.0,6.0:0,0,0:0,0,0:133,61,81:18,88,69:9,6,14:-,NM_004846.2(EIF4E2) c.375+84_375+88delTATTT:-,NOT_FOUND:-,NOT_FOUND 2 233431692 . G . . NT END=233431787;NT GT ./. 2 233432633 rs3791712 A T 97 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=EIF4E2/NM_004846.3/0;CC=c.665+709A>T;VC=Intron;Gene=EIF4E2/NM_001276336.1/0;CC=c.665+709A>T;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.530+709A>T;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.665+709A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:66:31:0:0:33,33:1005,1016:0.00,97.45:0.00,32.22:0.00,65.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,56.0:0,0:0,0:95,74:46,76:31,28:-,NM_004846.2(EIF4E2) c.665+709A>T:-,0.45:-,NOT_FOUND 2 233432697 . T A 79 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=48;PC=0.026;Gene=EIF4E2/NM_004846.3/0;CC=c.665+773T>A;VC=Intron;Gene=EIF4E2/NM_001276336.1/0;CC=c.665+773T>A;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.530+773T>A;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.665+773T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:48:24:0:0:25,23:815,730:78.97,0.00:36.27,0.00:42.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.2,10.7:0,0:0,0:89,66:61,85:39,44:NM_004846.2(EIF4E2) c.665+773T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 233432883 rs3791711 A G 127 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=EIF4E2/NM_004846.3/0;CC=c.666-772A>G;VC=Intron;Gene=EIF4E2/NM_001276336.1/0;CC=c.665+959A>G;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.530+959A>G;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.665+959A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:67:0:0:41,40:1355,1325:0.00,127.16:0.00,79.48:0.00,47.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,40.2:0,0:0,0:68,81:81,68:37,38:-,NM_004846.2(EIF4E2) c.666-772A>G:-,0.45:-,NOT_FOUND 2 233433649 . C . . NT END=233433654;NT GT ./. 2 233433921 . G . . NT END=233438972;NT GT ./. 2 233438772 rs13401648 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=7;Gene=EIF4E2/NM_001276336.1/0;CC=c.666-6842G>A;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.531-6842G>A;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.666-201G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:A,G:10:9:0:0:6,4:194,116:19.34,0.00:16.18,0.00:3.16,0.00:0.99,0.00:1.00,0.00:0.87,0.00:60,60:69.0,0.0:0,0:0,0:69,32:81,118:59,20:chr2 g.233438771G>A (intergenic),-:0.01,-:NOT_FOUND,- 2 233438786 rs2293338 G A 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.019;Gene=EIF4E2/NM_001276336.1/0;CC=c.666-6828G>A;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.531-6828G>A;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.666-187G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,G:10:10:0:0:6,4:197,112:19.65,0.00:19.85,0.00:-0.20,0.00:0.99,0.00:0.99,0.00:0.73,0.00:60,60:69.3,0.0:0,0:0,0:35,53:115,96:23,18:chr2 g.233438785G>A (intergenic),-:0.22,-:NOT_FOUND,- 2 233439052 . G . . NT END=233445613;NT GT ./. 2 233443833 rs202158506 TACACAC T 9 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=6;PC=0.003;Gene=EIF4E2/NM_001276336.1/0;CC=c.666-1742_666-1737delACACAC;VC=Intron;Gene=EIF4E2/NM_001276337.1/0;CC=c.531-1742_531-1737delACACAC;VC=Intron;Gene=EIF4E2/NM_001282958.1/1;CC=c.*34-1742_*34-1737delACACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:TACACAC,T:5:7:0:6:2,3:68,189:0.00,8.95:0.00,7.42:0.00,1.52:0.00,0.67:0.00,0.95:0.00,0.85:60,60:0.0,65.3:0,3:0,0:53,58:36,78:0,38:-,chr2 g.233443834_233443839delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 233445654 . G . . NT END=233470869;NT GT ./. 2 233470843 rs7571133 G A 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=0.001;Gene=EFHD1/NM_001243252.1/0;CC=c.-27G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:47:0:0:24,32:759,1038:70.74,0.00:38.28,0.00:32.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,6.8:0,0:0,0:54,55:77,77:29,37:NM_001243252.1(EFHD1) c.-27G>A,-:0.46,-:NOT_FOUND,- 2 233470884 . g . . NT END=233498206;NT GT ./. 2 233497962 rs112089070 G T 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.001;Gene=EFHD1/NM_001243252.1/0;CC=c.14+27079G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:G,T:7:7:0:0:2,5:13,145:0.00,15.26:0.00,15.26:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:121.5,34.2:0,0:0,0:96,55:55,96:51,40:-,NM_025202.3(EFHD1) c.-208-u245G>T:-,0.03:-,NOT_FOUND 2 233498506 rs112941683 C T 424 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=267;DB;DBA=NA;PAF=NA;Gene=EFHD1/NM_001243252.1/0;CC=c.14+27623C>T;VC=Intron;Gene=EFHD1/NM_001308395.1/1;CC=c.-324C>T;VC=5UTR;Gene=EFHD1/NM_025202.3/0;CC=c.92C>T;ProtCh=p.A31V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:267:179:0:0:125,142:4069,4367:0.00,424.14:0.00,204.32:0.00,219.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,36.1:0,0:0,0:91,81:54,65:36,36:-,NM_025202.3(EFHD1) c.92C>T (p.Ala31Val):-,0.06:-,NOT_FOUND 2 233498717 . G . . NT END=233527511;NT GT ./. 2 233527660 . G . . NT END=233537018;NT GT ./. 2 233536926 rs11684420 T C 151 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=EFHD1/NM_001243252.1/0;CC=c.163-93T>C;VC=Intron;Gene=EFHD1/NM_001308395.1/1;CC=c.115-93T>C;VC=Intron;Gene=EFHD1/NM_025202.3/0;CC=c.451-93T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:C:39:38:0:0:39:1329:151.50:133.65:17.85:1.00:1.00:1.00:60:39.8:0:0:50:101:27:NM_025202.3(EFHD1) c.451-93T>C,NM_025202.3(EFHD1) c.451-93T>C:0.35,0.35:NOT_FOUND,NOT_FOUND 2 233537125 rs11550699 A G 428 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=116;DB;DBA=NA;PAF=NA;PC=0.392;Gene=EFHD1/NM_001243252.1/0;CC=c.269A>G;ProtCh=p.K90R;VC=Missense;Gene=EFHD1/NM_001308395.1/1;CC=c.221A>G;ProtCh=p.K74R;VC=Missense;Gene=EFHD1/NM_025202.3/0;CC=c.557A>G;ProtCh=p.K186R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:116:77:0:0:1,114,1:34,3763,7:0.00,427.83,0.04:0.00,183.09,-0.00:0.00,244.74,0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,36.7,153.0:0,0,0:0,0,0:124,93,82:26,55,55:0,35,0:NM_025202.3(EFHD1) c.557A>G (p.Lys186Arg),NM_025202.3(EFHD1) c.557A>G (p.Lys186Arg):0.35,0.35:0.306243,0.306243 2 233537154 . G . . NT END=233546294;NT GT ./. 2 233537477 rs13009166 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=EFHD1/NM_001243252.1/0;CC=c.297+324A>G;VC=Intron;Gene=EFHD1/NM_001308395.1/1;CC=c.249+324A>G;VC=Intron;Gene=EFHD1/NM_025202.3/0;CC=c.585+324A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:39.2:0:0:132:18:10:NM_025202.3(EFHD1) c.585+324A>G,NM_025202.3(EFHD1) c.585+324A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 2 233541984 rs36180788 TACAC T 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=295;PC=0.243;Gene=EFHD1/NM_001243252.1/0;CC=c.298-4294_298-4291delACAC;VC=Intron;Gene=EFHD1/NM_001308395.1/1;CC=c.250-4294_250-4291delACAC;VC=Intron;Gene=EFHD1/NM_025202.3/0;CC=c.586-4294_586-4291delACAC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:TACAC,T:4:1:0:3:1,3:31,94:0.00,9.85:0.00,3.65:0.00,6.20:0.00,0.85:0.00,0.83:0.00,0.99:60,60:0.0,7.0:0,0:0,0:130,58:17,91:0,14:-,NM_025202.3(EFHD1) c.586-4310_586-4307delACAC:-,NOT_FOUND:-,NOT_FOUND 2 233546430 . T . . NT END=233599907;NT GT ./. 2 233594875 rs13008942 G A 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=1.000;Gene=GIGYF2/NR_103493.1/0;VC=NonCoding;Gene=GIGYF2/NR_103494.1/0;VC=NonCoding;Gene=GIGYF2/NR_103495.1/0;VC=NonCoding;Gene=GIGYF2/NM_001103146.1/0;CC=c.-43-4990G>A;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.-43-4990G>A;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.-43-4990G>A;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.-113-4252G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:24:15:0:0:5,19:177,626:14.75,0.00:7.48,0.00:7.27,0.00:0.83,0.00:0.94,0.00:0.96,0.00:60,60:35.4,1.3:0,0:0,0:64,68:83,71:9,40:NM_015575.3(GIGYF2) c.-113-4252G>A,-:0.29,-:NOT_FOUND,- 2 233599904 rs11555646 A C 65 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=1.000;Gene=GIGYF2/NR_103493.1/0;VC=NonCoding;Gene=GIGYF2/NR_103494.1/0;VC=NonCoding;Gene=GIGYF2/NR_103495.1/0;VC=NonCoding;Gene=GIGYF2/NM_001103146.1/0;CC=c.-4A>C;VC=5UTR;Gene=GIGYF2/NM_001103147.1/0;CC=c.-4A>C;VC=5UTR;Gene=GIGYF2/NM_001103148.1/0;CC=c.-4A>C;VC=5UTR;Gene=GIGYF2/NM_015575.3/1;CC=c.-4A>C;VC=5UTR;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:33:31:0:0:14,19:439,652:0.00,64.52:0.00,48.89:0.00,15.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,44.7:0,0:0,0:58,56:83,94:24,28:-,NM_015575.3(GIGYF2) c.-4A>C:-,0.29:-,0.320698 2 233599949 . G . . NT END=233600472;NT GT ./. 2 233600606 rs13013142 A G 64 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=1.000;Gene=GIGYF2/NR_103493.1/0;VC=NonCoding;Gene=GIGYF2/NR_103494.1/0;VC=NonCoding;Gene=GIGYF2/NR_103495.1/0;VC=NonCoding;Gene=GIGYF2/NM_001103146.1/0;CC=c.41+658A>G;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.41+658A>G;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.41+658A>G;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.41+658A>G;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:41:0:0:43,25:1406,718:0.00,64.23:0.00,38.20:0.00,26.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,48.1:0,0:0,0:79,67:67,83:36,28:-,NM_015575.3(GIGYF2) c.41+658A>G:-,0.29:-,NOT_FOUND 2 233601074 . a . . NT END=233612324;NT GT ./. 2 233612455 . G . . NT END=233613696;NT GT ./. 2 233612557 rs3817311 C T 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.171+103C>T;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.171+103C>T;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.171+103C>T;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.171+103C>T;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:2:0:0:14,13:420,433:0.00,41.40:0.00,1.49:0.00,39.91:0.00,1.00:0.00,0.78:0.00,1.00:60,60:17.0,45.2:0,0:0,0:79,103:71,48:60,21:-,NM_015575.3(GIGYF2) c.171+103C>T:-,0.29:-,NOT_FOUND 2 233612656 rs11679079 C T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.171+202C>T;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.171+202C>T;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.171+202C>T;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.171+202C>T;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:14:0:0:0:9,5:290,165:0.00,14.93:0.00,0.00:0.00,14.93:0.00,0.90:0.00,0.00:0.00,0.90:60,60:28.6,46.8:0,0:0,0:90,77:59,73:25,22:-,NM_015575.3(GIGYF2) c.171+202C>T:-,0.29:-,NOT_FOUND 2 233613793 . G . . NT END=233620932;NT GT ./. 2 233621045 . G . . NT END=233625189;NT GT ./. 2 233625083 . T A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;Gene=GIGYF2/NM_001103146.1/0;CC=c.380-107T>A;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.380-107T>A;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.380-107T>A;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.380-107T>A;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:A,T:17:17:0:0:5,12:160,377:13.92,0.00:13.92,0.00:0.00,0.00:0.88,0.00:0.88,0.00:0.00,0.00:60,60:34.0,3.7:0,0:0,0:23,79:128,71:21,32:NM_015575.3(GIGYF2) c.380-107T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 233625302 . G . . NT END=233626105;NT GT ./. 2 233626147 . G . . NT END=233632900;NT GT ./. 2 233632766 rs8192539 T C 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.532+6620T>C;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.532+6620T>C;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.532+6620T>C;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.532+6620T>C;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding;Gene=KCNJ13/NM_001172416.1/0;CC=c.*697A>G;VC=3UTR;Gene=KCNJ13/NM_001172417.1/0;CC=c.*135A>G;VC=3UTR;Gene=KCNJ13/NM_002242.4/1;CC=c.*135A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:C,T:11:11:0:0:6,5:205,169:20.07,0.00:20.07,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:56.3,0.0:0,0:0,0:78,80:71,71:49,34:NM_002242.4(KCNJ13) c.*135A>G,-:0.13,-:NOT_FOUND,- 2 233633460 rs1801251 G A 140 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=0.008;Gene=GIGYF2/NM_001103146.1/0;CC=c.532+7314G>A;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.532+7314G>A;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.532+7314G>A;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.532+7314G>A;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding;Gene=KCNJ13/NM_001172416.1/0;CC=c.*3C>T;VC=3UTR;Gene=KCNJ13/NM_001172417.1/0;CC=c.284C>T;ProtCh=p.T95I;VC=Missense;Gene=KCNJ13/NM_002242.4/1;CC=c.524C>T;ProtCh=p.T175I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:41:0:0:46,38:1431,1229:139.86,0.00:50.95,0.00:88.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,9.3:0,0:0,0:71,96:75,54:38,23:NM_002242.4(KCNJ13) c.524C>T (p.Thr175Ile),-:0.29,-:0.321313,- 2 233633524 . C . . NT END=233635612;NT GT ./. 2 233635388 rs56777991 A C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.532+9242A>C;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.533-5734A>C;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.532+9242A>C;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.532+9242A>C;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding;Gene=KCNJ13/NM_001172416.1/0;CC=c.224+461T>G;VC=Intron;Gene=KCNJ13/NM_001172417.1/0;CC=c.220+225T>G;VC=Intron;Gene=KCNJ13/NM_002242.4/1;CC=c.460+225T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,C:5:5:0:0:2,3:55,102:0.00,10.17:0.00,10.17:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:15.5,49.3:0,0:0,0:33,37:117,113:15,13:-,NM_002242.4(KCNJ13) c.460+225T>G:-,0.31:-,NOT_FOUND 2 233635438 rs59336151 A AT 12 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=92;Gene=GIGYF2/NM_001103146.1/0;CC=c.532+9300dupT;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.533-5676dupT;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.532+9300dupT;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.532+9300dupT;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding;Gene=KCNJ13/NM_001172416.1/0;CC=c.224+410dupA;VC=Intron;Gene=KCNJ13/NM_001172417.1/0;CC=c.220+174dupA;VC=Intron;Gene=KCNJ13/NM_002242.4/1;CC=c.460+174dupA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,AT:10:10:4:0:6,4:184,129:0.00,11.89:0.00,11.89:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:5.2,37.0:0,0:0,0:37,70:113,80:19,23:-,NM_002242.4(KCNJ13) c.460+174_460+175insA:-,0.28:-,NOT_FOUND 2 233636073 . C . . NT END=233641121;NT GT ./. 2 233641083 rs737027 G C 40 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.533-10777G>C;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.533-39G>C;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.533-10777G>C;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.533-10777G>C;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding;Gene=KCNJ13/NM_001172416.1/0;CC=c.-17+72C>G;VC=Intron;Gene=KCNJ13/NM_001172417.1/0;CC=c.-24+72C>G;VC=Intron;Gene=KCNJ13/NM_002242.4/1;CC=c.-17+72C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:14:0:0:12,8:402,282:40.08,0.00:20.49,0.00:19.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,2.2:0,0:0,0:35,46:107,100:27,16:NM_015575.3(GIGYF2) c.533-10777G>C,-:0.63,-:0.661978,- 2 233641188 . G . . NT END=233651859;NT GT ./. 2 233651737 rs397988243 AT A 60 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2398;Gene=GIGYF2/NM_001103146.1/0;CC=c.533-116delT;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.599-116delT;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.533-116delT;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.533-116delT;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:17:0:17:17:517:59.79:59.79:0.00:1.00:1.00:0.00:60:12.4:0:0:55:96:32:NM_015575.3(GIGYF2) c.533-122delT,NM_015575.3(GIGYF2) c.533-122delT:0.99,0.99:NOT_FOUND,NOT_FOUND 2 233652040 . G . . NT END=233655407;NT GT ./. 2 233655626 . G . . NT END=233655717;NT GT ./. 2 233655881 . G . . NT END=233655967;NT GT ./. 2 233656157 . G . . NT END=233659457;NT GT ./. 2 233659655 . G . . NT END=233660771;NT GT ./. 2 233660932 . G . . NT END=233671200;NT GT ./. 2 233671368 . G . . NT END=233674429;NT GT ./. 2 233674522 . G . . NT END=233675953;NT GT ./. 2 233676062 . G . . NT END=233677100;NT GT ./. 2 233677202 . G . . NT END=233680346;NT GT ./. 2 233680448 . G . . NT END=233681580;NT GT ./. 2 233681512 rs1078323 T G 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.2209-69T>G;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.2272-69T>G;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.2191-69T>G;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.2209-69T>G;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:36:35:0:0:19,17:554,568:53.54,0.00:38.48,0.00:15.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,4.4:0,0:0,0:47,51:104,97:30,35:NM_015575.3(GIGYF2) c.2209-69T>G,-:0.29,-:NOT_FOUND,- 2 233681743 . G . . NT END=233684536;NT GT ./. 2 233684402 rs2305141 A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.2371-135A>G;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.2434-135A>G;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.2353-135A>G;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.2371-135A>G;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:16:0:0:7,9:206,268:0.00,26.34:0.00,26.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.6,40.8:0,0:0,0:66,50:85,96:17,6:-,NM_015575.3(GIGYF2) c.2371-135A>G:-,0.7:-,NOT_FOUND 2 233684696 . G . . NT END=233697566;NT GT ./. 2 233697337 rs921055 A C 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=GIGYF2/NM_001103146.1/0;CC=c.2530-230A>C;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.2593-230A>C;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.2512-230A>C;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.2530-230A>C;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:A,C:10:10:0:0:4,6:109,204:0.00,20.36:0.00,20.36:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:27.5,38.0:0,0:0,0:58,50:86,100:28,20:-,NM_015575.3(GIGYF2) c.2530-230A>C:-,0.24:-,NOT_FOUND 2 233697804 . G . . NT END=233704558;NT GT ./. 2 233704682 . G . . NT END=233708755;NT GT ./. 2 233708806 rs3816334 A G 145 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=NA;PC=1.000;Gene=GIGYF2/NM_001103146.1/0;CC=c.2940A>G;ProtCh=p.Q980=;VC=Silent;Gene=GIGYF2/NM_001103147.1/0;CC=c.3003A>G;ProtCh=p.Q1001=;VC=Silent;Gene=GIGYF2/NM_001103148.1/0;CC=c.2922A>G;ProtCh=p.Q974=;VC=Silent;Gene=GIGYF2/NM_015575.3/1;CC=c.2940A>G;ProtCh=p.Q980=;VC=Silent;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:77:0:0:52,46:1644,1530:0.00,145.49:0.00,91.99:0.00,53.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,40.8:0,0:0,0:60,86:89,63:33,32:-,NM_015575.3(GIGYF2) c.2940A>G (p.(=)):-,0.71:-,0.678099 2 233708966 . G . . NT END=233709078;NT GT ./. 2 233709285 . G . . NT END=233710441;NT GT ./. 2 233709465 rs7560115 T G 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.3305+181T>G;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.3368+181T>G;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.3287+181T>G;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.3305+181T>G;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:130:G,T:11:0:0:0:4,7:133,227:12.08,0.00:0.00,0.00:12.08,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:58.8,15.3:0,0:0,0:96,109:54,42:14,22:NM_015575.3(GIGYF2) c.3305+181T>G,-:0.24,-:NOT_FOUND,- 2 233710597 . g . . NT END=233712057;NT GT ./. 2 233710713 rs4973054 G C 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.3460+117G>C;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.3523+117G>C;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.3442+117G>C;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.3460+117G>C;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:19:0:0:0:1,11,7:10,353,247:0.21,35.31,0.00:0.00,0.00,0.00:0.21,35.31,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:153.0,39.5,1.7:0,0,0:0,0,0:117,117,65:34,33,86:0,22,17:NM_015575.3(GIGYF2) c.3460+117G>C,-:0.7,-:NOT_FOUND,- 2 233712049 rs2305137 G A 135 nt VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.3461-9G>A;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.3524-9G>A;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.3443-9G>A;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.3461-9G>A;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:64:0:0:43,35:1377,1051:134.85,0.00:104.65,0.00:30.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,10.6:0,0:0,0:53,55:93,93:23,31:NM_015575.3(GIGYF2) c.3461-9G>A,-:0.68,-:0.641012,- 2 233712226 rs10555297 CACA C 314 PASS VT=DEL;SST=Single;DP=220;DB;DBA=NA;PAF=NA;NP=1470;PC=0.958;Gene=GIGYF2/NM_001103146.1/0;CC=c.3630_3632delACA;ProtCh=p.Q1216del;VC=InFrameDel;Gene=GIGYF2/NM_001103147.1/0;CC=c.3693_3695delACA;ProtCh=p.Q1237del;VC=InFrameDel;Gene=GIGYF2/NM_001103148.1/0;CC=c.3612_3614delACA;ProtCh=p.Q1210del;VC=InFrameDel;Gene=GIGYF2/NM_015575.3/1;CC=c.3630_3632delACA;ProtCh=p.Q1216del;VC=InFrameDel;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CACA,C:220:172:0:102:118,102:3696,3313:0.00,314.06:0.00,167.92:0.00,146.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,22.0:4,0:0,0:74,77:71,69:33,24:-,NM_015575.3(GIGYF2) c.3630_3632delACA (p.Gln1211[5]):-,0.64:-,NOT_FOUND 2 233712282 . G . . NT END=233714971;NT GT ./. 2 233712296 rs6437074 G A 270 nt VT=SNV;PN=T;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.3684+15G>A;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.3747+15G>A;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.3666+15G>A;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.3684+15G>A;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:162:86:0:0:82,80:2795,2583:269.88,0.00:94.39,0.00:175.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,6.5:0,0:0,0:100,109:48,40:28,21:NM_015575.3(GIGYF2) c.3684+15G>A,-:0.71,-:0.68321,- 2 233715120 . G . . NT END=233721502;NT GT ./. 2 233721455 rs1947105 G A 72 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=GIGYF2/NM_001103146.1/0;CC=c.3833-48G>A;VC=Intron;Gene=GIGYF2/NM_001103147.1/0;CC=c.3896-48G>A;VC=Intron;Gene=GIGYF2/NM_001103148.1/0;CC=c.3815-48G>A;VC=Intron;Gene=GIGYF2/NM_015575.3/1;CC=c.3833-48G>A;VC=Intron;Gene=GIGYF2/NR_103492.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:46:0:0:23,28:761,859:71.84,0.00:57.69,0.00:14.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,17.8:0,0:0,0:44,44:104,104:21,21:NM_015575.3(GIGYF2) c.3833-48G>A,-:0.71,-:0.679686,- 2 233721571 . G . . NT END=233735051;NT GT ./. 2 233735125 . G . . NT END=233740649;NT GT ./. 2 233740833 . g . . NT END=233740956;NT GT ./. 2 233740888 . C G 10 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=85;Gene=C2orf82/NM_206895.1/1;CC=c.256+56C>G;VC=Intron;DM=C2orf82/DUF4690 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:C,G:85:62:0:0:74,11:2018,181:0.00,9.58:0.00,-2.76:0.00,12.34:0.00,0.99:0.00,1.00:0.00,0.94:60,60:23.7,57.6:0,0:0,0:64,15:76,132:38,8:-,NM_206895.1(C2orf82) c.256+56C>G:-,NOT_FOUND:-,NOT_FOUND 2 233741067 . A . . NT END=233741127;NT GT ./. 2 233741138 . g . . NT END=233741346;NT GT ./. 2 233742072 . A . . NT END=233744198;NT GT ./. 2 233744130 . G GC 23 idl,rn VT=INS;SST=Single;DP=36;NP=1;Gene=NGEF/NM_001114090.1/0;CC=c.*68dupG;VC=3UTR;Gene=NGEF/NM_019850.2/1;CC=c.*68dupG;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:G,GC,D:31:35:10:10:16,8,7:512,319,300:0.00,22.65,18.07:0.00,22.56,15.08:0.00,0.09,2.98:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.75,0.00:60,60,60:27.0,80.2,24.1:0,2,3:0,0,0:81,60,100:48,79,51:41,18,24:-,NM_019850.2(NGEF) c.*68dupG:-,NOT_FOUND:-,NOT_FOUND 2 233744390 . C . . NT END=233745855;NT GT ./. 2 233745961 . C . . NT END=233746895;NT GT ./. 2 233746976 . C . . NT END=233748020;NT GT ./. 2 233748177 . C . . NT END=233748690;NT GT ./. 2 233748855 . C . . NT END=233749989;NT GT ./. 2 233749914 rs80050391 G A 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.1161+76C>T;VC=Intron;Gene=NGEF/NM_019850.2/1;CC=c.1437+76C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:27:0:0:12,17:383,486:35.54,0.00:32.74,0.00:2.80,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:48.2,14.1:0,0:0,0:31,39:110,112:23,27:NM_019850.2(NGEF) c.1437+76C>T,-:0.08,-:NOT_FOUND,- 2 233750080 . C . . NT END=233752742;NT GT ./. 2 233752818 . C . . NT END=233756067;NT GT ./. 2 233756198 . C . . NT END=233757607;NT GT ./. 2 233757443 rs2166441 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.866+165G>A;VC=Intron;Gene=NGEF/NM_019850.2/1;CC=c.1142+165G>A;VC=Intron;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,T:17:17:0:0:13,4:404,118:0.00,9.69:0.00,9.69:0.00,0.00:0.00,0.74:0.00,0.74:0.00,0.00:60,60:4.0,39.0:0,0:0,0:62,38:88,112:38,19:-,NM_019850.2(NGEF) c.1142+165G>A:-,0.74:-,NOT_FOUND 2 233757697 rs895432 A G 364 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=100;DB;DBA=NA;PAF=NA;PC=0.994;Gene=NGEF/NM_001114090.1/0;CC=c.777T>C;ProtCh=p.I259=;VC=Silent;Gene=NGEF/NM_019850.2/1;CC=c.1053T>C;ProtCh=p.I351=;VC=Silent;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:100:74:0:0:100:3165:363.74:186.81:176.93:1.00:1.00:1.00:60:42.3:0:0:75:74:39:NM_019850.2(NGEF) c.1053T>C (p.(=)),NM_019850.2(NGEF) c.1053T>C (p.(=)):0.96,0.96:0.967092,0.967092 2 233757761 . C . . NT END=233759465;NT GT ./. 2 233759362 rs895431 G C 68 nt VT=SNV;PN=G;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.713+104C>G;VC=Intron;Gene=NGEF/NM_019850.2/1;CC=c.989+104C>G;VC=Intron;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:37:0:0:20,17:694,542:67.87,0.00:60.61,0.00:7.25,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:36.2,3.7:0,0:0,0:24,19:126,131:15,14:NM_019850.2(NGEF) c.989+104C>G,-:0.73,-:NOT_FOUND,- 2 233759627 . C . . NT END=233766075;NT GT ./. 2 233759650 rs75269119 T A 103 nt VT=SNV;PN=T;NN=A;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.553-24A>T;VC=Intron;Gene=NGEF/NM_019850.2/1;CC=c.829-24A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:90:47:0:0:35,55:1126,1698:103.19,0.00:45.76,0.00:57.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,8.0:0,0:0,0:95,80:41,58:25,29:NM_019850.2(NGEF) c.829-24A>T,-:0.08,-:0.086756,- 2 233766097 rs76010712 G A 129 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.553-6471C>T;VC=Intron;Gene=NGEF/NM_019850.2/1;CC=c.829-6471C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:80:66:0:0:42,38:1333,1263:129.26,0.00:83.42,0.00:45.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,5.1:0,0:0,0:72,66:78,75:40,23:NM_019850.2(NGEF) c.829-6471C>T,-:0.1,-:NOT_FOUND,- 2 233766151 . G . . NT END=233784993;NT GT ./. 2 233784667 rs778357 G T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.552+327C>A;VC=Intron;Gene=NGEF/NM_019850.2/1;CC=c.828+327C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:5:5:0:0:2,3:66,88:0.00,8.77:0.00,8.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,131.7:0,0:0,0:12,53:138,98:9,33:-,NM_019850.2(NGEF) c.828+327C>A:-,0.84:-,NOT_FOUND 2 233784718 rs778356 T C 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.552+276A>G;VC=Intron;Gene=NGEF/NM_019850.2/1;CC=c.828+276A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:183:C,T:12:12:0:0:6,6:176,180:16.86,0.00:16.86,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:81.7,9.8:0,0:0,0:51,27:99,124:26,20:NM_019850.2(NGEF) c.828+276A>G,-:0.73,-:NOT_FOUND,- 2 233785015 rs778354 G A 242 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_001114090.1/0;CC=c.531C>T;ProtCh=p.P177=;VC=Silent;Gene=NGEF/NM_019850.2/1;CC=c.807C>T;ProtCh=p.P269=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:160:136:0:0:80,80:2516,2403:241.56,0.00:173.55,0.00:68.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,12.8:0,0:0,0:41,53:97,91:28,30:NM_019850.2(NGEF) c.807C>T (p.(=)),-:0.72,-:0.791481,- 2 233785296 . C . . NT END=233791753;NT GT ./. 2 233791897 . C . . NT END=233792602;NT GT ./. 2 233792862 . T . . NT END=233834923;NT GT ./. 2 233834785 rs4973587 A T 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.010;Gene=NGEF/NM_019850.2/1;CC=c.383+139T>A;VC=Intron;DM=NGEF/PH;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,T:9:9:0:0:6,3:188,99:0.00,8.84:0.00,8.84:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:31.7,102.3:0,1:0,0:28,48:123,103:15,9:-,NM_019850.2(NGEF) c.383+139T>A:-,NOT_FOUND:-,NOT_FOUND 2 233834806 rs113984112 A G 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.036;Gene=NGEF/NM_019850.2/1;CC=c.383+118T>C;VC=Intron;DM=NGEF/PH;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:15:15:0:0:8,7:265,193:0.00,18.13:0.00,18.13:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:8.0,79.1:0,0:0,0:32,16:118,135:24,15:-,NM_019850.2(NGEF) c.383+118T>C:-,0.07:-,NOT_FOUND 2 233834820 rs76603378 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_019850.2/1;CC=c.383+104A>G;VC=Intron;DM=NGEF/PH;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:7,11:240,335:22.12,0.00:22.12,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:79.1,22.9:0,0:0,0:30,21:121,130:15,15:NM_019850.2(NGEF) c.383+104A>G,-:0.07,-:NOT_FOUND,- 2 233834975 rs4973588 A G 77 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_019850.2/1;CC=c.332T>C;ProtCh=p.M111T;VC=Missense;DM=NGEF/PH;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:33:0:0:26,26:801,799:0.00,76.59:0.00,35.15:0.00,41.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,37.8:0,0:0,0:86,89:60,59:34,33:-,NM_019850.2(NGEF) c.332T>C (p.Met111Thr):-,0.88:-,0.869599 2 233835039 . C . . NT END=233839332;NT GT ./. 2 233835088 rs78336991 T C 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.005;Gene=NGEF/NM_019850.2/1;CC=c.269-50A>G;VC=Intron;DM=NGEF/PH;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:2:0:0:12,15:384,446:36.06,0.00:-0.38,0.00:36.45,0.00:1.00,0.00:0.74,0.00:1.00,0.00:60,60:56.8,4.5:0,0:0,0:94,118:55,33:20,13:NM_019850.2(NGEF) c.269-50A>G,-:0.07,-:0.086575,- 2 233835150 rs75687703 A C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_019850.2/1;CC=c.269-112T>G;VC=Intron;DM=NGEF/PH;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:A,C:8:0:0:0:4,4:141,119:0.00,11.40:0.00,0.00:0.00,11.40:0.00,0.87:0.00,0.00:0.00,0.87:60,60:19.5,67.5:0,0:0,0:59,119:90,31:20,15:-,NM_019850.2(NGEF) c.269-112T>G:-,0.07:-,NOT_FOUND 2 233839174 rs6437079 G A 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_019850.2/1;CC=c.268+159C>T;VC=Intron;DM=NGEF/PH;DM=NGEF/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:25:0:0:10,15:282,443:25.67,0.00:25.67,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.8,26.3:0,0:0,0:13,78:138,73:10,26:NM_019850.2(NGEF) c.268+159C>T,-:0.5,-:NOT_FOUND,- 2 233839601 . G . . NT END=233897381;NT GT ./. 2 233839710 rs75758173 A C 78 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=NGEF/NM_019850.2/1;CC=c.-74-36T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:42:6:0:0:18,24:568,795:0.00,78.47:0.00,1.83:0.00,76.64:0.00,1.00:0.00,0.99:0.00,1.00:60,60:4.8,37.2:0,0:0,0:107,115:42,35:33,31:-,NM_019850.2(NGEF) c.-74-36T>G:-,0.07:-,NOT_FOUND 2 233844067 rs562292190 T TAC 14 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=22;Gene=NGEF/NM_019850.2/1;CC=c.-74-4394_-74-4393insGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TAC:6:4:4:0:2,4:67,135:0.00,13.75:0.00,4.97:0.00,8.78:0.00,0.93:0.00,0.99:0.00,0.99:60,60:4.5,5.2:0,0:0,0:84,63:66,65:40,24:-,NM_019850.2(NGEF) c.-74-4394_-74-4393insGT:-,NOT_FOUND:-,NOT_FOUND 2 233880621 . GGTGT C,G 7 nt VT=DEL;SST=Single;DP=4;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:C,G:3:2:0:3:1,2:5,96:0.38,6.65:0.00,5.01:0.38,1.64:0.00,0.51:0.00,0.79:0.00,0.89:60,60:87.0,0.0:0,1:0,0:111,38:40,112:0,15:NM_019850.2(NGEF) c.-248-u2674_-248-u2670delACACCinsG,NM_019850.2(NGEF) c.-248-u2674_-248-u2671delACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 233897101 rs2233381 T A,C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,C:5:5:0:0:1,4:10,73:0.79,8.75:0.79,8.75:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:151.0,42.2:0,0:0,0:65,59:60,91:0,6:NM_005383.2(NEU2) c.1-u281T>A,NM_005383.2(NEU2) c.1-u281T>C:NOT_FOUND,0.29:NOT_FOUND,NOT_FOUND 2 233897583 . G . . NT END=233898825;NT GT ./. 2 233899126 rs2233391 C A 638 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=177;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NEU2/NM_005383.2/1;CC=c.502C>A;ProtCh=p.H168N;VC=Missense;DM=NEU2/BNR_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:177:115:0:0:177:5537:637.89:303.62:334.27:1.00:1.00:1.00:60:41.7:0:0:67:79:44:NM_005383.2(NEU2) c.502C>A (p.His168Asn),NM_005383.2(NEU2) c.502C>A (p.His168Asn):0.28,0.28:0.388359,0.388359 2 233899768 . G . . NT END=233925188;NT GT ./. 2 233925166 rs1141328 G A 144 nt VT=SNV;PN=C;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=0.001;Gene=INPP5D/NM_001017915.2/1;CC=c.-23G>A;VC=5UTR;Gene=INPP5D/NM_005541.4/0;CC=c.-23G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:119:101:0:0:49,1,69:1555,7,2084:144.11,-0.20,0.00:95.62,-0.11,0.00:48.49,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.3,77.0,6.1:0,0,0:0,0,0:52,150,53:99,1,88:36,0,29:NM_001017915.1(INPP5D) c.-23G>A,-:0.42,-:0.378508,- 2 233925323 . G . . NT END=233944044;NT GT ./. 2 233925406 rs34218488 T G 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=INPP5D/NM_001017915.2/1;CC=c.134+84T>G;VC=Intron;Gene=INPP5D/NM_005541.4/0;CC=c.134+84T>G;VC=Intron;DM=INPP5D/SH2;DM=INPP5D/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:67:16:0:0:30,37:955,1154:89.82,0.00:8.64,0.00:81.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,13.9:0,0:0,0:109,108:38,43:25,19:NM_001017915.1(INPP5D) c.134+84T>G,-:0.43,-:NOT_FOUND,- 2 233925491 rs4246649 A G 71 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=INPP5D/NM_001017915.2/1;CC=c.134+169A>G;VC=Intron;Gene=INPP5D/NM_005541.4/0;CC=c.134+169A>G;VC=Intron;DM=INPP5D/SH2;DM=INPP5D/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:0:0:0:19:617:70.72:0.00:70.72:1.00:0.00:1.00:60:53.0:0:0:111:40:29:NM_001017915.1(INPP5D) c.134+169A>G,NM_001017915.1(INPP5D) c.134+169A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 2 233944109 . G . . NT END=233986816;NT GT ./. 2 233986968 . G . . NT END=233990454;NT GT ./. 2 233987114 rs9288685 T C 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=INPP5D/NM_001017915.2/1;CC=c.349+147T>C;VC=Intron;Gene=INPP5D/NM_005541.4/0;CC=c.349+147T>C;VC=Intron;DM=INPP5D/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:0:0:0:13,13:363,416:34.58,0.00:0.00,0.00:34.58,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.3,13.1:0,0:0,0:102,122:48,29:20,18:NM_001017915.1(INPP5D) c.349+147T>C,-:0.46,-:NOT_FOUND,- 2 233990412 rs55913569 C T 88 nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;Gene=INPP5D/NM_001017915.2/1;CC=c.350-43C>T;VC=Intron;Gene=INPP5D/NM_005541.4/0;CC=c.350-46C>T;VC=Intron;DM=INPP5D/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:64:0:0:43,30:1431,956:0.00,88.45:0.00,64.71:0.00,23.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,35.7:0,0:0,0:42,52:97,99:24,21:-,NM_001017915.1(INPP5D) c.350-43C>T:-,0.3:-,0.426897 2 233990630 . G . . NT END=233995217;NT GT ./. 2 233994594 rs140392015 TTGTGTG T 7 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=215;Gene=INPP5D/NM_001017915.2/1;CC=c.525-595_525-590delTGTGTG;VC=Intron;Gene=INPP5D/NM_005541.4/0;CC=c.522-595_522-590delTGTGTG;VC=Intron;DM=INPP5D/Exo_endo_phos;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:TTGTGTG,T:6:6:0:3:3,3:99,78:0.00,7.42:0.00,5.83:0.00,1.59:0.00,0.73:0.00,0.73:0.00,0.79:60,60:11.0,3.7:0,0:0,0:139,31:12,120:4,6:-,NM_001017915.1(INPP5D) c.525-623_525-618delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 233994928 rs13388142 C T 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=INPP5D/NM_001017915.2/1;CC=c.525-290C>T;VC=Intron;Gene=INPP5D/NM_005541.4/0;CC=c.522-290C>T;VC=Intron;DM=INPP5D/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:3:0:0:3,2:101,69:0.00,6.39:0.00,6.84:0.00,-0.44:0.00,0.46:0.00,0.80:0.00,0.70:60,60:0.0,34.5:0,0:0,0:52,84:99,66:28,48:-,NM_001017915.1(INPP5D) c.525-290C>T:-,0.24:-,NOT_FOUND 2 233995357 . G . . NT END=233995844;NT GT ./. 2 233995882 . T . . NT END=234160473;NT GT ./. 2 233996045 rs532858768 G GA 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=411;PC=0.001;Gene=INPP5D/NM_001017915.2/1;CC=c.665+695dupA;VC=Intron;Gene=INPP5D/NM_005541.4/0;CC=c.662+695dupA;VC=Intron;DM=INPP5D/Exo_endo_phos;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:G,GA:7:1:4:0:3,4:105,129:0.00,12.73:0.00,3.53:0.00,9.20:0.00,0.90:0.00,0.71:0.00,0.99:60,60:0.0,5.2:0,0:0,0:109,130:42,20:7,2:-,NM_001017915.1(INPP5D) annotation-fail:-,NOT_FOUND:-,NOT_FOUND 2 234160345 rs2289477 T G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.-379T>G;VC=5UTR;Gene=ATG16L1/NM_001190267.1/0;CC=c.-473T>G;VC=5UTR;Gene=ATG16L1/NM_017974.3/0;CC=c.-129T>G;VC=5UTR;Gene=ATG16L1/NM_030803.6/1;CC=c.-129T>G;VC=5UTR;Gene=ATG16L1/NM_198890.2/0;CC=c.-129T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:7:0:0:8:251:28.91:25.44:3.48:1.00:1.00:1.00:60:34.9:0:0:68:82:25:NM_030803.6(ATG16L1) c.-129T>G,NM_030803.6(ATG16L1) c.-129T>G:0.39,0.39:NOT_FOUND,NOT_FOUND 2 234160589 . G . . NT END=234164747;NT GT ./. 2 234160669 rs10199278 C G 101 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.-138+83C>G;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.-230+81C>G;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.115+81C>G;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.115+81C>G;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.115+81C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:G:30:2:0:0:30:867:100.90:3.83:97.07:1.00:1.00:1.00:60:47.0:0:0:86:64:33:NM_030803.6(ATG16L1) c.115+81C>G,NM_030803.6(ATG16L1) c.115+81C>G:0.39,0.39:NOT_FOUND,NOT_FOUND 2 234164842 . G . . NT END=234171775;NT GT ./. 2 234171882 . G . . NT END=234172637;NT GT ./. 2 234172712 . G . . NT END=234173537;NT GT ./. 2 234172846 rs6708373 A G 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.137+135A>G;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.41+135A>G;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.389+135A>G;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.389+135A>G;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.210-5802A>G;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:0:0:0:15:496:56.73:0.00:56.73:1.00:0.00:1.00:60:47.5:0:0:110:41:24:NM_030803.6(ATG16L1) c.389+135A>G,NM_030803.6(ATG16L1) c.389+135A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 2 234172915 rs10165561 G C 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.137+204G>C;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.41+204G>C;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.389+204G>C;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.389+204G>C;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.210-5733G>C;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A,C:9:0:0:0:1,8:9,259:0.51,29.31:0.00,0.00:0.51,29.31:0.00,1.00:0.00,0.00:0.00,1.00:60,60:86.0,60.0:0,0:0,0:67,63:67,86:0,38:NM_030803.6(ATG16L1) c.389+204G>C,NM_030803.6(ATG16L1) c.389+204G>C:0.39,0.39:NOT_FOUND,NOT_FOUND 2 234173270 rs35812841 C G 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.138-268C>G;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.42-268C>G;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.390-268C>G;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.390-268C>G;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.210-5378C>G;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:141:16.01:16.01:0.00:1.00:1.00:0.00:60:41.2:0:0:34:115:22:NM_030803.6(ATG16L1) c.390-268C>G,NM_030803.6(ATG16L1) c.390-268C>G:0.55,0.55:NOT_FOUND,NOT_FOUND 2 234173503 rs12994997 G A 301 nt VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.138-35G>A;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.42-35G>A;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.390-35G>A;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.390-35G>A;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.210-5145G>A;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:80:71:0:0:80:2626:300.69:222.88:77.81:1.00:1.00:1.00:60:42.4:0:0:44:93:25:NM_030803.6(ATG16L1) c.390-35G>A,NM_030803.6(ATG16L1) c.390-35G>A:0.39,0.39:0.453944,0.453944 2 234173790 . G . . NT END=234178647;NT GT ./. 2 234178453 rs12994971 C T 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ATG16L1/NM_001190266.1/0;CC=c.390-195C>T;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.294-195C>T;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.642-195C>T;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.642-195C>T;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.210-195C>T;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C,T:10:10:0:0:1,9:16,294:0.00,32.31:0.00,32.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:61.0,41.6:0,0:0,0:2,33:123,118:0,19:NM_030803.6(ATG16L1) c.642-195C>T,NM_030803.6(ATG16L1) c.642-195C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 2 234178624 rs35705047 CT C 58 idl,rn VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=19;PC=0.001;Gene=ATG16L1/NM_001190266.1/0;CC=c.390-9delT;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.294-9delT;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.642-9delT;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.642-9delT;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.210-9delT;VC=Intron;DM=ATG16L1/ATG16;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:65:59:3:27:41,1,2,21:1406,10,99,805:0.00,-0.12,4.05,57.76:0.00,-0.17,0.82,34.79:0.00,0.06,3.23,22.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:30.4,49.0,6.0,26.1:0,0,1,5:0,0,0,0:47,68,79,54:85,83,72,95:29,0,49,21:-,NM_030803.6(ATG16L1) c.642-23delT:-,NOT_FOUND:-,NOT_FOUND 2 234178714 . G . . NT END=234181611;NT GT ./. 2 234181593 rs2289475 G C 148 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.456-19G>C;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.360-19G>C;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.708-19G>C;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.708-19G>C;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.276-19G>C;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:C,G:41:36:0:0:40,1:1305,23:147.51,0.00:107.17,0.00:40.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,29.0:0,0:0,0:49,95:98,56:24,0:NM_030803.6(ATG16L1) c.708-19G>C,NM_030803.6(ATG16L1) c.708-19G>C:0.6,0.6:0.706213,0.706213 2 234181699 . G . . NT END=234182366;NT GT ./. 2 234181848 rs2289474 C T 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.542+150C>T;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.446+150C>T;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.794+150C>T;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.794+150C>T;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.362+150C>T;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:318:36.94:0.00:36.94:1.00:0.00:1.00:60:40.8:0:0:98:53:38:NM_030803.6(ATG16L1) c.794+150C>T,NM_030803.6(ATG16L1) c.794+150C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 2 234182240 rs2289472 C T 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.543-127C>T;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.447-127C>T;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.794+542C>T;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.795-127C>T;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.362+542C>T;VC=Intron;DM=ATG16L1/ATG16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:13:0:0:14:412:47.81:44.04:3.78:1.00:1.00:1.00:60:35.2:0:0:55:95:34:NM_030803.6(ATG16L1) c.795-127C>T,NM_030803.6(ATG16L1) c.795-127C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 2 234182424 . G . . NT END=234182636;NT GT ./. 2 234182688 . G . . NT END=234183321;NT GT ./. 2 234183368 rs2241880 A G 116 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=in-clinvar;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.646A>G;ProtCh=p.T216A;VC=Missense;Gene=ATG16L1/NM_001190267.1/0;CC=c.550A>G;ProtCh=p.T184A;VC=Missense;Gene=ATG16L1/NM_017974.3/0;CC=c.841A>G;ProtCh=p.T281A;VC=Missense;Gene=ATG16L1/NM_030803.6/1;CC=c.898A>G;ProtCh=p.T300A;VC=Missense;Gene=ATG16L1/NM_198890.2/0;CC=c.409A>G;ProtCh=p.T137A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:G:30:22:0:0:30:1017:115.98:57.96:58.02:1.00:1.00:1.00:60:46.5:0:0:66:81:30:NM_030803.6(ATG16L1) c.898A>G (p.Thr300Ala),NM_030803.6(ATG16L1) c.898A>G (p.Thr300Ala):0.39,0.39:0.456251,0.456251 2 234183425 . G . . NT END=234186213;NT GT ./. 2 234183468 rs2241879 G A 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.702+44G>A;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.606+44G>A;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.897+44G>A;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.954+44G>A;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.465+44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:5:0:0:15:483:55.45:15.26:40.19:1.00:1.00:1.00:60:56.3:0:0:101:50:27:NM_030803.6(ATG16L1) c.954+44G>A,NM_030803.6(ATG16L1) c.954+44G>A:0.39,0.39:0.455405,0.455405 2 234185999 rs3816234 G A 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.211;Gene=ATG16L1/NM_001190266.1/0;CC=c.703-215G>A;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.607-215G>A;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.898-215G>A;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.955-215G>A;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.466-215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:270:30.82:28.78:2.04:1.00:1.00:1.00:60:36.6:0:0:42:108:19:NM_030803.6(ATG16L1) c.955-215G>A,NM_030803.6(ATG16L1) c.955-215G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 2 234186320 . G . . NT END=234189750;NT GT ./. 2 234186489 rs2241877 A G 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=ATG16L1/NM_001190266.1/0;CC=c.808+170A>G;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.712+170A>G;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.1003+170A>G;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.1060+170A>G;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.571+170A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:339:38.67:0.00:38.67:1.00:0.00:1.00:60:35.0:0:0:102:48:28:NM_030803.6(ATG16L1) c.1060+170A>G,NM_030803.6(ATG16L1) c.1060+170A>G:0.62,0.62:NOT_FOUND,NOT_FOUND 2 234189822 . G . . NT END=234191327;NT GT ./. 2 234191400 . G . . NT END=234198499;NT GT ./. 2 234198023 rs71058540 A ATGTGTGTGTGTGTG 9 sb,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=2;NP=4;PC=0.002;Gene=ATG16L1/NM_001190266.1/0;CC=c.952-445_952-444insTGTGTGTGTGTGTG;VC=Intron;Gene=ATG16L1/NM_001190267.1/0;CC=c.856-445_856-444insTGTGTGTGTGTGTG;VC=Intron;Gene=ATG16L1/NM_017974.3/0;CC=c.1147-445_1147-444insTGTGTGTGTGTGTG;VC=Intron;Gene=ATG16L1/NM_030803.6/1;CC=c.1204-445_1204-444insTGTGTGTGTGTGTG;VC=Intron;Gene=ATG16L1/NM_198890.2/0;CC=c.715-445_715-444insTGTGTGTGTGTGTG;VC=Intron;DM=ATG16L1/WD40;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:1:A,G,T,ATGTGTGTGTGTGTG:6:6:4:0:1,1,1,3:34,34,34,127:0.00,2.97,2.97,9.48:0.00,-0.03,1.48,9.91:0.00,3.00,1.48,-0.42:0.00,0.00,0.00,0.69:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.93:60,60,60,60:0.0,61.0,68.0,0.0:0,0,0,1:0,0,0,0:136,67,110,51:15,76,33,99:0,0,0,10:-,NM_030803.6(ATG16L1) c.1204-477_1204-476insTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 2 234198621 . G . . NT END=234198893;NT GT ./. 2 234199000 . G . . NT END=234200773;NT GT ./. 2 234200924 . G . . NT END=234201032;NT GT ./. 2 234201081 . G . . NT END=234201901;NT GT ./. 2 234202004 . G . . NT END=234202902;NT GT ./. 2 234202997 . C . . NT END=234217835;NT GT ./. 2 234217911 . G . . NT END=234224720;NT GT ./. 2 234224782 . G . . NT END=234227396;NT GT ./. 2 234227442 . G . . NT END=234228193;NT GT ./. 2 234227523 rs2304777 A G 73 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=SAG/NM_000541.4/1;CC=c.181+82A>G;VC=Intron;DM=SAG/Arrestin_N;DM=SAG/Arrestin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:3:0:0:20:633:72.83:5.92:66.91:1.00:1.00:1.00:60:45.2:0:0:94:55:41:NM_000541.4(SAG) c.181+82A>G,NM_000541.4(SAG) c.181+82A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 234227936 rs397755477 T TG 21 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=108;Gene=SAG/NM_000541.4/1;CC=c.181+500dupG;VC=Intron;DM=SAG/Arrestin_N;DM=SAG/Arrestin_N;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TG:6:6:6:0:6:179:20.76:20.76:0.00:1.00:1.00:0.00:60:23.0:0:0:47:103:10:NM_000541.4(SAG) c.181+495_181+496insG,NM_000541.4(SAG) c.181+495_181+496insG:0.67,0.67:NOT_FOUND,NOT_FOUND 2 234228670 . G . . NT END=234229275;NT GT ./. 2 234229470 . G . . NT END=234231591;NT GT ./. 2 234231652 . G . . NT END=234235766;NT GT ./. 2 234235749 rs2304774 G C 159 nt VT=SNV;PN=T;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=SAG/NM_000541.4/1;CC=c.436-18G>C;VC=Intron;DM=SAG/Arrestin_N;DM=SAG/Arrestin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:40:0:0:42:1394:159.39:114.30:45.08:1.00:1.00:1.00:60:40.0:0:0:55:90:40:NM_000541.4(SAG) c.436-18G>C,NM_000541.4(SAG) c.436-18G>C:0.38,0.38:0.395476,0.395476 2 234235844 . G . . NT END=234237123;NT GT ./. 2 234237260 . G . . NT END=234238138;NT GT ./. 2 234237387 rs12997325 A G 85 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SAG/NM_000541.4/1;CC=c.648+128A>G;VC=Intron;DM=SAG/Arrestin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:1:0:0:24:738:85.20:1.89:83.31:1.00:1.00:1.00:60:40.5:0:0:89:61:29:NM_000541.4(SAG) c.648+128A>G,NM_000541.4(SAG) c.648+128A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 2 234238224 . G . . NT END=234240285;NT GT ./. 2 234238254 rs745498 T G 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=SAG/NM_000541.4/1;CC=c.733+31T>G;VC=Intron;DM=SAG/Arrestin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:6:0:0:16:563:63.93:16.26:47.67:1.00:1.00:1.00:60:35.3:0:0:107:43:25:NM_000541.4(SAG) c.733+31T>G,NM_000541.4(SAG) c.733+31T>G:0.67,0.67:0.758035,0.758035 2 234240359 . G . . NT END=234243607;NT GT ./. 2 234240684 rs2241875 G A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SAG/NM_000541.4/1;CC=c.806+326G>A;VC=Intron;DM=SAG/Arrestin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:142:16.55:0.00:16.55:1.00:0.00:1.00:60:33.0:0:0:92:59:34:NM_000541.4(SAG) c.806+326G>A,NM_000541.4(SAG) c.806+326G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 2 234243322 rs6431310 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SAG/NM_000541.4/1;CC=c.807-286T>C;VC=Intron;DM=SAG/Arrestin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:116:13.50:13.50:0.00:1.00:1.00:0.00:60:42.2:0:0:38:113:16:NM_000541.4(SAG) c.807-286T>C,NM_000541.4(SAG) c.807-286T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 2 234243746 . G . . NT END=234247321;NT GT ./. 2 234247400 . G . . NT END=234249100;NT GT ./. 2 234247627 rs2241874 T C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SAG/NM_000541.4/1;CC=c.1022+228T>C;VC=Intron;DM=SAG/Arrestin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:184:21.23:0.00:21.23:1.00:0.00:1.00:60:37.7:0:0:60:90:30:NM_000541.4(SAG) c.1022+228T>C,NM_000541.4(SAG) c.1022+228T>C:0.61,0.61:NOT_FOUND,NOT_FOUND 2 234249125 . G . . NT END=234250916;NT GT ./. 2 234249385 rs10803624 C T 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SAG/NM_000541.4/1;CC=c.1046+261C>T;VC=Intron;DM=SAG/Arrestin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:254:29.21:0.00:29.21:1.00:0.00:1.00:60:38.6:0:0:69:81:53:NM_000541.4(SAG) c.1046+261C>T,NM_000541.4(SAG) c.1046+261C>T:0.34,0.34:NOT_FOUND,NOT_FOUND 2 234249397 rs35743911 TTG T 16 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=96;PC=0.204;Gene=SAG/NM_000541.4/1;CC=c.1046+291_1046+292delGT;VC=Intron;DM=SAG/Arrestin_C;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:TTG,T:7:0:0:5:2,5:45,157:0.00,16.28:0.00,0.00:0.00,16.28:0.00,0.98:0.00,0.00:0.00,0.98:60,60:40.0,39.4:0,0:0,0:145,67:6,82:1,28:-,NM_000541.4(SAG) c.1046+274_1046+275delTG:-,NOT_FOUND:-,NOT_FOUND 2 234250973 . G . . NT END=234252275;NT GT ./. 2 234252400 . G . . NT END=234255048;NT GT ./. 2 234254810 rs71058547 T TAATAAAATAA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=99;PC=0.020;Gene=SAG/NM_000541.4/1;CC=c.1103-225_1103-224insAAATAAAATA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TAATAAAATAA:4:4:4:1:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:0.0:0:0:70:81:16:NM_000541.4(SAG) c.1103-239_1103-238insAATAAAATAA,NM_000541.4(SAG) c.1103-239_1103-238insAATAAAATAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 234255059 . G . . NT END=234255452;NT GT ./. 2 234255145 rs35371121 A C 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=SAG/NM_000541.4/1;CC=c.1112+87A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:4:0:0:7,8:198,261:0.00,25.44:0.00,5.19:0.00,20.25:0.00,1.00:0.00,0.95:0.00,1.00:60,60:18.4,35.2:0,0:0,0:67,79:84,71:25,42:-,NM_000541.4(SAG) c.1112+87A>C:-,0.14:-,0.111257 2 234255547 rs1046974 G A 145 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=SAG/NM_000541.4/1;CC=c.1207G>A;ProtCh=p.V403I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:A:38:20:0:0:38:1264:144.52:46.97:97.55:1.00:1.00:1.00:60:36.7:0:0:103:39:19:NM_000541.4(SAG) c.1207G>A (p.Val403Ile),NM_000541.4(SAG) c.1207G>A (p.Val403Ile):0.31,0.31:0.308215,0.308215 2 234255559 . A . . NT END=234263164;NT GT ./. 2 234263321 . G . . NT END=234296799;NT GT ./. 2 234297014 . G . . NT END=234299048;NT GT ./. 2 234298826 rs78999970 T A 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DGKD/NM_152879.2/1;CC=c.268-223T>A;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.136-223T>A;VC=Intron;DM=DGKD/DAGK_cat;DM=DGKD/PH;DM=DGKD/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,T:5:5:0:0:3,2:79,65:7.86,0.00:7.86,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:46.0,22.0:0,0:0,0:21,52:130,99:12,22:NM_152879.2(DGKD) c.268-223T>A,-:0.12,-:NOT_FOUND,- 2 234299130 . G . . NT END=234327886;NT GT ./. 2 234328068 . G . . NT END=234337811;NT GT ./. 2 234328302 rs71421697 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=DGKD/NM_152879.2/1;CC=c.349-14724C>T;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.217-14724C>T;VC=Intron;DM=DGKD/PH;DM=DGKD/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:6:0:0:0:1,5:30,139:0.00,15.04:0.00,0.00:0.00,15.04:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,64.2:0,0:0,0:133,93:18,56:0,29:-,NM_152879.2(DGKD) c.349-14724C>T:-,0.11:-,NOT_FOUND 2 234337520 rs566095779 T G,TTTG 11 end,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=233;NP=9;PC=0.002;DM=DGKD/PH;DM=DGKD/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:13:G,TTTG:4:4:3:0:1,3:18,96:1.68,10.66:1.68,10.66:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:77.0,11.3:0,0:0,0:10,49:140,101:0,4:NM_152879.2(DGKD) c.349-5506T>G,NM_152879.2(DGKD) c.349-5506_349-5505insTTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 234337949 . G . . NT END=234343025;NT GT ./. 2 234343131 . G . . NT END=234343414;NT GT ./. 2 234343548 . G . . NT END=234344463;NT GT ./. 2 234344571 . G . . NT END=234344961;NT GT ./. 2 234345088 . G . . NT END=234346022;NT GT ./. 2 234346126 . G . . NT END=234346862;NT GT ./. 2 234346660 rs2242102 G A 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=DGKD/NM_152879.2/1;CC=c.923-203G>A;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.791-203G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:223,245:21.60,0.00:21.60,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:68.4,5.3:0,0:0,0:65,44:85,98:15,21:NM_152879.2(DGKD) c.923-203G>A,-:0.56,-:NOT_FOUND,- 2 234347026 . G . . NT END=234350532;NT GT ./. 2 234347091 rs3214826 TA T 10 rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=836;PC=0.007;Gene=DGKD/NM_152879.2/1;CC=c.1085+77delA;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.953+77delA;VC=Intron;DM=DGKD/DAGK_cat;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:TA,I,T:35:10:3:4:28,3,4:776,100,132:0.00,7.15,9.87:0.00,1.14,2.57:0.00,6.01,7.30:0.00,0.00,0.61:0.00,0.00,0.64:0.00,0.00,0.91:60,60,60:10.2,19.7,0.0:0,0,0:0,0,0:126,122,104:24,26,46:21,3,20:-,NM_152879.2(DGKD) c.1085+67delA:-,NOT_FOUND:-,NOT_FOUND 2 234350642 . G . . NT END=234354268;NT GT ./. 2 234354409 . G . . NT END=234355357;NT GT ./. 2 234355443 . G . . NT END=234356136;NT GT ./. 2 234355838 rs36037733 GC G 19 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=10;PC=0.001;Gene=DGKD/NM_152879.2/1;CC=c.1419+402delC;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.1287+402delC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:6:6:160:18.84:14.97:3.88:1.00:1.00:1.00:60:37.2:0:0:71:80:32:NM_152879.2(DGKD) c.1419+397delC,NM_152879.2(DGKD) c.1419+397delC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 234355898 rs2971859 G C 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=DGKD/NM_152879.2/1;CC=c.1419+456G>C;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.1287+456G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,G:9:8:0:0:4,5:97,104:8.91,0.00:5.48,0.00:3.42,0.00:0.85,0.00:0.98,0.00:0.63,0.00:60,60:51.8,6.6:0,0:0,0:128,55:23,96:2,6:NM_152879.2(DGKD) c.1419+456G>C,-:0.93,-:NOT_FOUND,- 2 234356552 . G . . NT END=234356732;NT GT ./. 2 234356828 . G . . NT END=234356921;NT GT ./. 2 234357022 . G . . NT END=234357748;NT GT ./. 2 234357513 rs13016839 A G 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DGKD/NM_152879.2/1;CC=c.1615-236A>G;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.1483-236A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,G:14:14:0:0:2,12:66,373:0.00,40.51:0.00,40.51:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,46.8:0,0:0,0:44,50:106,101:9,11:-,NM_152879.2(DGKD) c.1615-236A>G:-,0.11:-,NOT_FOUND 2 234358023 . G . . NT END=234358627;NT GT ./. 2 234358286 rs2242100 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=DGKD/NM_152879.2/1;CC=c.1888+264C>T;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.1756+264C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:2:0:0:6:191:21.96:7.25:14.71:1.00:1.00:1.00:60:44.7:0:0:64:86:46:NM_152879.2(DGKD) c.1888+264C>T,NM_152879.2(DGKD) c.1888+264C>T:0.7,0.7:NOT_FOUND,NOT_FOUND 2 234358778 . G . . NT END=234359567;NT GT ./. 2 234359697 . G . . NT END=234360609;NT GT ./. 2 234359851 . C CT 17 rn VT=INS;SST=Single;DP=17;NP=1;Gene=DGKD/NM_152879.2/1;CC=c.2167+170dupT;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.2035+170dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:C,CT,D:17:0:6:2:9,6,2:244,182,67:0.00,16.66,5.31:0.00,0.00,0.00:0.00,16.66,5.31:0.00,0.95,0.00:0.00,0.00,0.00:0.00,0.95,0.00:60,60,60:12.1,18.7,5.0:0,0,0:0,0,0:91,73,96:43,77,54:33,30,28:-,NM_152879.2(DGKD) c.2167+155_2167+156insT:-,NOT_FOUND:-,NOT_FOUND 2 234360707 . G . . NT END=234363408;NT GT ./. 2 234363420 rs376456548 C T 46 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.979;Gene=DGKD/NM_152879.2/1;CC=c.2276C>T;ProtCh=p.T759M;VC=Missense;Gene=DGKD/NM_003648.2/0;CC=c.2144C>T;ProtCh=p.T715M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:26:0:0:24,15:755,500:0.00,45.88:0.00,19.90:0.00,25.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,38.7:0,0:0,0:76,55:72,80:23,30:-,NM_152879.2(DGKD) c.2276C>T (p.Thr759Met):-,NOT_FOUND:-,0.000154 2 234363520 . G . . NT END=234365544;NT GT ./. 2 234365642 . G . . NT END=234365866;NT GT ./. 2 234365975 . G . . NT END=234366929;NT GT ./. 2 234367044 . G . . NT END=234368402;NT GT ./. 2 234368220 . G A 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;Gene=DGKD/NM_152879.2/1;CC=c.2695-183G>A;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.2563-183G>A;VC=Intron;DM=DGKD/DAGK_acc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:23:23:0:0:11,1,11:363,11,297:34.98,0.18,0.00:34.98,0.18,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:50.9,95.0,19.3:0,0,0:0,0,0:16,47,52:135,104,98:11,0,23:NM_152879.2(DGKD) c.2695-183G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 234368538 . G . . NT END=234368750;NT GT ./. 2 234368639 rs201299808 AT A 43 idl,rn VT=DEL;SST=Single;DP=94;DB;DBA=NA;PAF=NA;NP=69;PC=0.002;Gene=DGKD/NM_152879.2/1;CC=c.2829+116delT;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.2697+116delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,G,I,A:91:46:8:21:64,1,1,7,18:1903,12,11,229,603:0.00,-0.14,-0.17,12.93,43.39:0.00,-0.15,-0.01,2.98,16.48:0.00,0.01,-0.16,9.94,26.92:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:17.0,77.0,45.0,40.3,19.8:0,0,0,1,2:0,0,0,0,0:101,47,127,76,79:48,102,22,74,71:32,0,0,39,40:-,NM_152879.2(DGKD) c.2829+103delT:-,NOT_FOUND:-,NOT_FOUND 2 234368715 . TA T 55 idl,rn VT=DEL;SST=Single;DP=109;NP=42;PC=0.001;Gene=DGKD/NM_152879.2/1;CC=c.2830-111delA;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.2698-111delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,TA,I,T:105:78:8:26:2,1,72,6,24:58,10,2143,243,733:2.72,-0.19,0.00,12.55,54.73:0.46,-0.09,0.00,7.39,34.18:2.26,-0.10,0.00,5.16,20.55:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:29.0,100.0,29.2,11.2,37.9:0,0,1,2,2:0,0,0,0,0:0,54,45,40,35:145,52,105,102,107:0,0,32,28,22:-,NM_152879.2(DGKD) c.2830-124delA:-,NOT_FOUND:-,NOT_FOUND 2 234368800 . C . . NT END=234368839;NT GT ./. 2 234368992 . G . . NT END=234370993;NT GT ./. 2 234371106 . G . . NT END=234371288;NT GT ./. 2 234371382 . G . . NT END=234372809;NT GT ./. 2 234372767 rs2924811 T C 111 nt VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.012;Gene=DGKD/NM_152879.2/1;CC=c.3187-43T>C;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.3055-43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:73:65:0:0:35,38:1158,1222:110.53,0.00:75.52,0.00:35.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,9.6:0,0:0,0:60,49:84,89:31,20:NM_152879.2(DGKD) c.3187-43T>C,-:0.25,-:0.291429,- 2 234372930 . G . . NT END=234375731;NT GT ./. 2 234372985 rs2242098 A C 83 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=DGKD/NM_152879.2/1;CC=c.3306+56A>C;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.3174+56A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:59:30:0:0:32,26,1:991,884,10:0.00,83.49,-0.08:0.00,28.76,-0.07:0.00,54.73,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.6,37.6,99.0:0,0,0:0,0,0:101,90,81:49,60,70:24,31,0:-,NM_152879.2(DGKD) c.3306+56A>C:-,0.35:-,NOT_FOUND 2 234375850 . G . . NT END=234377068;NT GT ./. 2 234375944 rs2305540 C T 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DGKD/NM_152879.2/1;CC=c.3424+95C>T;VC=Intron;Gene=DGKD/NM_003648.2/0;CC=c.3292+95C>T;VC=Intron;DM=DGKD/SAM_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:6,8:208,242:0.00,23.83:0.00,0.00:0.00,23.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.3,45.8:0,0:0,0:118,125:32,25:25,6:-,NM_152879.2(DGKD) c.3424+95C>T:-,0.3:-,NOT_FOUND 2 234377200 . G . . NT END=234378016;NT GT ./. 2 234378107 . C . . NT END=234386037;NT GT ./. 2 234386018 rs2971862 A G 77 nt VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.*20T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:62:54:0:0:34,27,1:1094,821,8:0.00,76.73,-0.15:0.00,56.65,-0.07:0.00,20.07,-0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.2,42.8,212.0:0,0,0:0,0,0:41,55,68:106,94,69:25,44,0:-,NM_018218.2(USP40) c.*20T>C:-,0.24:-,0.28023 2 234386134 rs2971863 A G 123 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.3648T>C;ProtCh=p.H1216=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:94:64:0:0:53,41:1760,1316:0.00,123.18:0.00,53.20:0.00,69.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,47.5:0,0:0,0:86,82:62,61:28,26:-,NM_018218.2(USP40) c.3648T>C (p.(=)):-,0.24:-,0.278424 2 234386150 . C . . NT END=234389848;NT GT ./. 2 234388274 rs201340272 C GGTGTGTGTGT 10 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;NP=3;NP=33;PC=0.001;Gene=USP40/NM_018218.2/1;CC=c.3632+1574_3632+1575insACACACACAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T,GGTGTGTGTGT:7:2:3:0:2,2,3:61,22,99:0.00,1.76,9.74:0.00,-0.22,-0.36:0.00,1.98,10.11:0.00,0.00,0.69:0.00,0.00,0.73:0.00,0.00,0.95:60,60,70:42.5,67.5,14.7:0,0,0:0,0,0:98,91,45:49,41,106:32,20,7:-,NM_018218.2(USP40) c.3632+1575delGinsACACACACACC:-,NOT_FOUND:-,NOT_FOUND 2 234389944 . C . . NT END=234394176;NT GT ./. 2 234394273 . C . . NT END=234394412;NT GT ./. 2 234394329 rs1470864 C A 63 nt VT=SNV;PN=A;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.3442-57G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:67:41:0:0:24,43:708,1457:63.22,0.00:39.95,0.00:23.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,6.9:0,0:0,0:43,78:107,72:18,34:NM_018218.2(USP40) c.3442-57G>T,-:0.23,-:NOT_FOUND,- 2 234394487 rs1048603 G A 287 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=163;DB;DBA=NA;PAF=NA;PC=0.315;Gene=USP40/NM_018218.2/1;CC=c.3367C>T;ProtCh=p.R1123C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:163:134:0:0:88,1,73,1:2927,11,2411,11:286.52,-0.11,0.00,-0.11:194.99,-0.11,0.00,-0.03:91.53,-0.00,0.00,-0.08:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:53.3,131.0,4.9,113.0:0,0,0,0:0,0,0,0:75,38,53,26:68,113,91,115:33,0,32,0:NM_018218.2(USP40) c.3367C>T (p.Arg1123Cys),-:0.37,-:0.421302,- 2 234394569 rs2603547 A G 315 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=173;DB;DBA=NA;PAF=NA;PC=0.026;Gene=USP40/NM_018218.2/1;CC=c.3285T>C;ProtCh=p.Y1095=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:173:116:0:0:74,99:2466,3186:0.00,314.54:0.00,143.97:0.00,170.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,47.9:0,0:0,0:93,65:54,80:27,38:-,NM_018218.2(USP40) c.3285T>C (p.(=)):-,0.24:-,0.274772 2 234394624 . C . . NT END=234396884;NT GT ./. 2 234396951 . C . . NT END=234398010;NT GT ./. 2 234397006 rs145883223 AT A 43 rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=352;Gene=USP40/NM_018218.2/1;CC=c.3165-57delA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:27:9:0:14:13,14:436,447:0.00,43.26:0.00,4.12:0.00,39.14:0.00,1.00:0.00,1.00:0.00,1.00:60,70:4.9,8.1:0,0:0,0:96,102:55,49:16,38:-,NM_018218.2(USP40) c.3165-57delA:-,NOT_FOUND:-,0.190786 2 234398130 . C . . NT END=234399812;NT GT ./. 2 234398195 rs112451786 G GA 30 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=135;Gene=USP40/NM_018218.2/1;CC=c.3046-67dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:29:4:14:0:18,11:622,417:0.00,29.75:0.00,1.16:0.00,28.59:0.00,1.00:0.00,0.82:0.00,1.00:60,70:15.4,39.0:0,3:0,0:122,89:27,62:23,30:-,NM_018218.2(USP40) c.3046-67_3046-66insT:-,NOT_FOUND:-,NOT_FOUND 2 234399908 . C . . NT END=234402070;NT GT ./. 2 234402198 . C . . NT END=234405403;NT GT ./. 2 234405374 rs2602386 A C 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.2823+30T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:29:25:0:0:14,15:465,481:0.00,46.52:0.00,32.53:0.00,13.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,34.6:0,0:0,0:54,38:94,111:34,27:-,NM_018218.2(USP40) c.2823+30T>G:-,0.38:-,0.428474 2 234405479 . C . . NT END=234407193;NT GT ./. 2 234407160 rs2603546 C T 55 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.2748+34G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:26:0:0:11,18:314,545:0.00,54.72:0.00,37.14:0.00,17.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.6,39.3:0,0:0,0:47,87:103,63:7,29:-,NM_018218.2(USP40) c.2748+34G>A:-,0.15:-,0.193635 2 234407259 . C . . NT END=234408524;NT GT ./. 2 234408562 . C . . NT END=234418694;NT GT ./. 2 234418782 . C . . NT END=234420354;NT GT ./. 2 234420444 . C . . NT END=234421214;NT GT ./. 2 234421269 . C . . NT END=234428259;NT GT ./. 2 234421283 rs143258246 A AATATTATTTTTCTTAGT 13 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.001;Gene=USP40/NM_018218.2/1;CC=c.2417-16_2417-15insACTAAGAAAAATAATAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,AATATTATTTTTCTTAGT:28:20:5:0:23,5:741,166:0.00,13.28:0.00,5.22:0.00,8.06:0.00,0.81:0.00,0.95:0.00,0.96:60,60:7.0,0.0:0,0:0,0:120,83:27,68:22,5:-,NM_018218.2(USP40) c.2417-16_2417-15insACTAAGAAAAATAATAT:-,0.24:-,0.241653 2 234428318 . C . . NT END=234429636;NT GT ./. 2 234429739 rs397953463 T TTTC 106 PASS VT=INS;SST=Single;DP=56;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1095;PC=0.027;Gene=USP40/NM_018218.2/1;CC=c.2253_2255dupGAA;ProtCh=p.K752_W753insK;VC=InFrameIns;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTC:56:33:33:0:23,33:724,1066:0.00,105.89:0.00,56.71:0.00,49.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,7.4:0,0:0,0:101,70:46,63:35,31:-,NM_018218.2(USP40) c.2253_2255dupGAA (p.Lys752dup):-,0.16:-,0.207653 2 234429761 . C . . NT END=234431815;NT GT ./. 2 234430033 rs1220430 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.2235-273A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:22:C,T:6:1:0:0:5,1:160,32:17.21,0.00:1.85,0.00:15.36,0.00:0.99,0.00:0.89,0.00:0.99,0.00:60,60:32.4,0.0:0,0:0,0:90,49:60,102:51,0:NM_018218.2(USP40) c.2235-273A>G,-:0.19,-:NOT_FOUND,- 2 234432017 rs838543 A G 195 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=NA;PC=0.966;Gene=USP40/NM_018218.2/1;CC=c.2033T>C;ProtCh=p.V678A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:135:74:0:0:74,61:2335,2061:0.00,194.83:0.00,67.90:0.00,126.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,40.7:0,0:0,0:89,61:54,89:37,46:-,NM_018218.2(USP40) c.2033T>C (p.Val678Ala):-,0.19:-,0.210811 2 234432136 . C . . NT END=234433137;NT GT ./. 2 234433124 rs838549 G A 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.001;Gene=USP40/NM_018218.2/1;CC=c.1914+14C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:43:0:0:26,27:801,909:76.50,0.00:42.97,0.00:33.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,11.0:0,1:0,0:51,49:87,91:37,31:NM_018218.2(USP40) c.1914+14C>T,-:0.17,-:0.204011,- 2 234433209 . C . . NT END=234434123;NT GT ./. 2 234434209 . C . . NT END=234436052;NT GT ./. 2 234436225 . C . . NT END=234438076;NT GT ./. 2 234438159 . C . . NT END=234442124;NT GT ./. 2 234438246 rs56828432 C CT 33 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1155;Gene=USP40/NM_018218.2/1;CC=c.1505-89_1505-88insA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:24:6:11:0:13,11:418,349:0.00,32.97:0.00,4.57:0.00,28.39:0.00,1.00:0.00,0.97:0.00,1.00:60,60:11.8,19.7:0,0:0,0:114,101:37,44:14,23:-,NM_018218.2(USP40) c.1505-89_1505-88insA:-,0.8:-,NOT_FOUND 2 234442426 . C . . NT END=234449307;NT GT ./. 2 234442437 rs568527446 CA C 90 idl,rn VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1247;Gene=USP40/NM_018218.2/1;CC=c.1204-13delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,I,C:62:31:1:33:32,1,29:1015,29,1056:0.00,1.36,90.15:0.00,-0.05,29.47:0.00,1.41,60.68:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:5.3,55.0,14.6:0,0,4:0,0,0:87,102,89:59,49,52:27,0,26:-,NM_018218.2(USP40) c.1204-13delT:-,NOT_FOUND:-,NOT_FOUND 2 234449316 rs2167884 G A 56 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=1.000;Gene=USP40/NM_018218.2/1;CC=c.1195C>T;ProtCh=p.L399=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:41:33:0:0:18,23:592,737:55.61,0.00:37.35,0.00:18.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,4.6:0,0:0,0:38,47:101,104:16,22:NM_018218.2(USP40) c.1195C>T (p.(=)),-:0.81,-:0.786048,- 2 234449416 . C . . NT END=234450913;NT GT ./. 2 234449462 rs1545525 T C 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.1099-50A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:11:0:0:15,14:507,413:49.16,0.00:21.57,0.00:27.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,2.8:0,0:0,0:104,94:47,56:24,18:NM_018218.2(USP40) c.1099-50A>G,-:0.77,-:0.739656,- 2 234450822 rs1901812 T C 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.1098+92A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:6:6:0:0:3,3:100,101:9.62,0.00:9.62,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.3,0.0:0,0:0,0:43,42:108,109:5,20:NM_018218.2(USP40) c.1098+92A>G,-:0.83,-:NOT_FOUND,- 2 234451010 . C . . NT END=234457746;NT GT ./. 2 234457876 . C . . NT END=234460021;NT GT ./. 2 234457900 rs3965793 T A 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.874-25A>T;VC=Intron;DM=USP40/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:16:0:0:11,22:364,673:32.53,0.00:14.14,0.00:18.39,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:33.1,3.8:0,0:0,0:99,90:49,55:29,20:NM_018218.2(USP40) c.874-25A>T,-:0.62,-:0.576402,- 2 234460166 . C . . NT END=234463025;NT GT ./. 2 234460388 rs4663698 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.730-223C>T;VC=Intron;DM=USP40/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:5:0:0:0:3,2:105,65:10.47,0.00:0.00,0.00:10.47,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:35.0,0.0:0,0:0,0:89,90:62,59:27,18:NM_018218.2(USP40) c.730-223C>T,-:0.84,-:NOT_FOUND,- 2 234463173 . C . . NT END=234465500;NT GT ./. 2 234465666 . C . . NT END=234468456;NT GT ./. 2 234468571 . C . . NT END=234469805;NT GT ./. 2 234469664 rs6753062 T C 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=USP40/NM_018218.2/1;CC=c.304-1094A>G;VC=Intron;DM=USP40/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:19:0:0:9,10:306,322:29.19,0.00:29.19,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.6,1.9:0,0:0,0:66,28:85,121:43,3:NM_018218.2(USP40) c.304-1094A>G,-:0.77,-:NOT_FOUND,- 2 234469868 . a . . NT END=234471381;NT GT ./. 2 234469974 rs534155038 G C 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=979;PC=0.026;Gene=USP40/NM_018218.2/1;CC=c.304-1404C>G;VC=Intron;DM=USP40/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:23:0:0:0:1,11,11:9,343,332:0.06,32.92,0.00:0.00,0.00,0.00:0.06,32.92,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:40,60,60:200.0,51.4,10.8:0,0,0:0,0,0:46,114,74:105,37,76:0,22,48:NM_018218.2(USP40) c.304-1404C>G,-:NOT_FOUND,-:NOT_FOUND,- 2 234471450 . C . . NT END=234474001;NT GT ./. 2 234474237 . A . . NT END=234475329;NT GT ./. 2 234475434 . A . . NT END=234526353;NT GT ./. 2 234511883 rs2741021 C T 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:5:5:0:0:1,4:34,126:0.00,13.42:0.00,13.42:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,31.5:0,0:0,0:22,36:128,114:0,10:-,chr2 g.234511882C>T (intergenic):-,0.14:-,NOT_FOUND 2 234526223 . AT A 26 idl,rn VT=DEL;SST=Single;DP=81;NP=2;PC=0.001;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AT,I,A:79:80:12:13:56,11,12:1557,343,373:0.00,23.80,26.10:0.00,19.61,26.14:0.00,4.19,-0.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.43:60,60,60:30.6,40.7,12.2:0,1,1:0,0,0:58,34,65:87,104,86:40,15,29:-,NM_019076.4(UGT1A8) c.-63-u67delT:-,NOT_FOUND:-,NOT_FOUND 2 234527209 . G . . NT END=234545168;NT GT ./. 2 234545039 rs561374954 A AT 83 sb;idl,rn VT=INS;SST=Single;DP=93;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;NP=188;Gene=UGT1A8/NM_019076.4/1;CC=c.855+17844dupT;VC=Intron;DM=UGT1A8/UDPGT;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:90:91:33:7:53,30,7:1645,1015,195:0.00,82.52,13.20:0.00,83.41,13.37:0.00,-0.89,-0.17:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.96,0.00:60,60,60:21.8,26.2,18.1:0,3,0:0,0,0:50,58,55:101,93,81:39,32,19:-,NM_019076.4(UGT1A8) c.855+17831_855+17832insT:-,NOT_FOUND:-,NOT_FOUND 2 234546024 . G . . NT END=234580494;NT GT ./. 2 234557414 rs28444828 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.002;Gene=UGT1A8/NM_019076.4/1;CC=c.855+30206T>C;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+11391T>C;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:11,7:355,205:35.51,0.00:35.51,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.1,1.4:0,0:0,0:77,55:74,96:34,38:NM_019075.2(UGT1A10) c.855+11391T>C,-:0.68,-:NOT_FOUND,- 2 234580249 rs2741046 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=UGT1A8/NM_019076.4/1;CC=c.855+53041T>C;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+34226T>C;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,T:12:12:0:0:5,7:107,194:9.52,0.00:9.52,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:48.6,12.6:0,0:0,0:57,61:94,90:22,10:NM_019075.2(UGT1A10) c.855+34226T>C,-:0.14,-:NOT_FOUND,- 2 234580453 rs397840701 AT A 131 rn VT=DEL;SST=Single;DP=111;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1483;Gene=UGT1A8/NM_019076.4/1;CC=c.855+53255delT;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+34440delT;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,I,A:111:109:4:46:61,1,4,45:1865,8,125,1411:0.00,-0.18,7.68,131.17:0.00,-0.17,7.73,121.65:0.00,-0.01,-0.05,9.53:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:20.2,8.0,13.0,13.4:0,0,0,0:0,0,0,0:60,132,18,57:91,19,132,90:37,0,4,31:-,NM_019075.2(UGT1A10) c.855+34431delT:-,NOT_FOUND:-,NOT_FOUND 2 234581436 . G . . NT END=234590530;NT GT ./. 2 234581654 rs2741047 A T 63 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+54446A>T;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+35631A>T;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+219A>T;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:0:0:0:9,20:255,614:0.00,63.09:0.00,0.00:0.00,63.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:20.1,48.0:0,0:0,0:75,96:76,54:39,39:-,NM_019075.2(UGT1A10) c.855+35631A>T:-,0.55:-,NOT_FOUND 2 234581748 rs2741048 C A 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+54540C>A;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+35725C>A;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+313C>A;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,C:13:0:0:0:7,6:199,182:19.31,0.00:0.00,0.00:19.31,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:58.1,4.2:0,0:0,0:124,49:27,102:17,20:NM_019075.2(UGT1A10) c.855+35725C>A,-:0.55,-:NOT_FOUND,- 2 234590176 rs367775975 C G,CA 6 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:G,CA:3:5:4:0:1,2:10,129:0.79,6.46:0.79,6.46:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:49.0,142.0:0,2:0,0:107,13:18,118:0,3:NM_019075.2(UGT1A10) c.855+44153C>G,NM_019075.2(UGT1A10) c.855+44153_855+44154insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 234590527 rs7586110 T G 387 nt VT=SNV;PN=C;NN=T;SST=Single;DP=250;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+63319T>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+44504T>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+9092T>G;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:250:227:0:0:134,116:3988,3877:387.39,0.00:302.23,0.00:85.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.9,7.4:0,0:0,0:29,56:116,91:19,26:NM_019075.2(UGT1A10) c.855+44504T>G,-:0.29,-:NOT_FOUND,- 2 234590616 rs7577677 C A 758 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=460;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+63408C>A;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+44593C>A;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+9181C>A;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.33C>A;ProtCh=p.P11=;VC=Silent;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:460:372:0:0:247,210,3:7771,6633,34:757.82,0.00,-0.33:487.68,0.00,-0.17:270.15,0.00,-0.16:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.8,5.6,107.7:0,0,0:0,0,0:65,54,109:82,94,41:34,34,20:NM_019077.2(UGT1A7) c.33C>A (p.(=)),-:0.29,-:0.348839,- 2 234590970 rs17868323 T G 433 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=329;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+63762T>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+44947T>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+9535T>G;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.387T>G;ProtCh=p.N129K;VC=Missense;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:329:213:0:0:146,183:4616,5913:432.98,0.00:255.81,0.00:177.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:104.3,5.6:0,0:0,0:62,63:88,83:27,38:NM_019077.2(UGT1A7) c.387T>G (p.Asn129Lys),-:0.5,-:NOT_FOUND,- 2 234590974 rs17863778 C A 434 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=328;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+63766C>A;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+44951C>A;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+9539C>A;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.391C>A;ProtCh=p.R131=;VC=Silent;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:328:210:0:0:145,183:4623,5372:433.73,0.00:252.56,0.00:181.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:104.0,6.8:0,1:0,0:64,72:84,77:27,37:NM_019077.2(UGT1A7) c.391C>A (p.(=)),-:0.45,-:NOT_FOUND,- 2 234590975 rs17868324 G A 433 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=331;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+63767G>A;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+44952G>A;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+9540G>A;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.392G>A;ProtCh=p.R131Q;VC=Missense;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T,D:331:214:0:1:145,184,1,1:4619,5713,8,33:433.08,0.00,-0.22,1.04:241.12,0.00,-0.11,1.15:191.96,0.00,-0.11,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,56,60:103.9,6.0,132.0,0.0:0,0,0,0:0,0,0,0:67,66,58,36:83,83,93,115:29,39,0,0:NM_019077.2(UGT1A7) c.392G>A (p.Arg131Gln),-:0.45,-:NOT_FOUND,- 2 234591205 rs11692021 T C 641 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=385;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+63997T>C;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+45182T>C;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+9770T>C;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.622T>C;ProtCh=p.W208R;VC=Missense;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:385:213:0:0:212,173:6551,5666:640.94,0.00:300.38,0.00:340.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,6.9:0,0:0,0:83,69:62,75:37,35:NM_019077.2(UGT1A7) c.622T>C (p.Trp208Arg),-:0.29,-:0.349223,- 2 234591439 . G . . NT END=234599165;NT GT ./. 2 234598991 rs7563561 T G 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.013;Gene=UGT1A8/NM_019076.4/1;CC=c.855+71783T>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+52968T>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+17556T>G;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+7553T>G;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:23:0:0:11,12:381,356:36.44,0.00:36.44,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.0,4.8:0,0:0,0:56,40:95,110:35,38:NM_019075.2(UGT1A10) c.855+52968T>G,-:0.34,-:NOT_FOUND,- 2 234599089 rs7608175 C G 149 nt VT=SNV;PN=T;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+71881C>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+53066C>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+17654C>G;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+7651C>G;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:67:59:0:0:23,44:783,1463:0.00,148.53:0.00,112.88:0.00,35.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,46.4:0,0:0,0:57,34:91,114:23,28:-,NM_019075.2(UGT1A10) c.855+53066C>G:-,0.34:-,NOT_FOUND 2 234599234 . G GA 51 idl,rn VT=INS;SST=Single;DP=171;NP=2;PC=0.001;Gene=UGT1A8/NM_019076.4/1;CC=c.855+72038dupA;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+53223dupA;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+17811dupA;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+7808dupA;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T,GA,D:171:144:21:11:2,1,134,2,21,11:21,25,4399,15,675,350:-0.43,0.47,0.00,-0.57,50.79,23.29:-0.32,-0.25,0.00,-0.41,43.54,14.77:-0.10,0.73,0.00,-0.16,7.25,8.52:0.00,0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.00,1.00,0.00:60,60,60,60,60,60:213.0,200.0,25.0,73.5,12.7,32.5:0,0,0,0,0,0:0,0,0,0,0,0:137,51,57,85,73,29:13,100,91,66,76,122:1,0,34,8,35,21:-,NM_019075.2(UGT1A10) c.855+53211_855+53212insA:-,NOT_FOUND:-,NOT_FOUND 2 234599296 rs45615240 T C 365 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=228;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+72088T>C;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+53273T>C;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+17861T>C;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+7858T>C;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:228:176:0:0:120,108:3769,3559:365.50,0.00:223.82,0.00:141.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.9,11.2:0,0:0,0:64,60:79,88:34,32:NM_019075.2(UGT1A10) c.855+53273T>C,-:0.34,-:NOT_FOUND,- 2 234599404 rs67972446 CAT C 354 PASS VT=DEL;SST=Single;DP=266;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=293;PC=0.003;Gene=UGT1A8/NM_019076.4/1;CC=c.855+72198_855+72199delTA;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+53383_855+53384delTA;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+17971_855+17972delTA;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+7968_855+7969delTA;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAT,T,C:266:162:0:129:148,1,117:4859,12,3772:0.00,-0.19,354.08:0.00,-0.04,176.38:0.00,-0.14,177.70:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.3,21.0,10.3:0,0,0:0,0,0:80,149,64:64,1,76:40,0,25:-,NM_019075.2(UGT1A10) c.855+53382_855+53383delAT:-,0.45:-,NOT_FOUND 2 234599406 rs12469671 T C 30 idl VT=SNV;PN=A;NN=A;SST=Single;DP=142;DB;DBA=NA;PAF=NA;NP=4;PC=0.003;Gene=UGT1A8/NM_019076.4/1;CC=c.855+72198T>C;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+53383T>C;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+17971T>C;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+7968T>C;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,C,G,T:142:81:0:131:1,13,1,127:12,422,25,3866:-0.27,29.64,0.50,0.00:-0.18,12.92,-0.18,0.00:-0.09,16.72,0.67,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:12.0,74.5,56.0,8.8:0,0,0,0:0,0,0,0:0,140,2,78:151,11,149,69:0,4,0,34:NM_019075.2(UGT1A10) c.855+53383T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 234599422 rs71058572 TACAC T 316 idl,rn VT=DEL;SST=Single;DP=271;DB;DBA=NA;PAF=NA;NP=88;PC=0.002;Gene=UGT1A8/NM_019076.4/1;CC=c.855+72235_855+72238delACAC;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+53420_855+53423delACAC;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+18008_855+18011delACAC;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+8005_855+8008delACAC;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,TACAC,I,T:259:158:1:119:1,17,134,1,106:8,517,3943,22,3754:-0.21,35.78,0.00,0.23,316.35:-0.11,11.43,0.00,0.12,147.71:-0.10,24.35,0.00,0.10,168.64:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:73.0,61.5,14.3,18.0,5.9:1,1,0,0,12:0,0,0,0,0:54,15,96,94,76:59,134,47,57,71:0,11,34,0,20:-,NM_019075.2(UGT1A10) c.855+53400_855+53403delACAC:-,NOT_FOUND:-,NOT_FOUND 2 234599941 rs12623271 C G 206 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=157;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+72733C>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+53918C>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+18506C>G;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+8503C>G;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:157:101:0:0:89,68:2957,2198:0.00,205.54:0.00,98.03:0.00,107.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,43.2:0,0:0,0:70,55:80,91:32,32:-,NM_019075.2(UGT1A10) c.855+53918C>G:-,0.34:-,NOT_FOUND 2 234600274 rs10445704 G A 154 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.855+73066G>A;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+54251G>A;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+18839G>A;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+8836G>A;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:105:53:0:0:51,53,1:1612,1729,10:154.19,0.00,-0.13:33.78,0.00,0.01:120.41,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:70,60,60:41.2,5.5,20.0:0,0,0:0,0,0:102,79,105:47,56,46:23,35,0:NM_019075.2(UGT1A10) c.855+54251G>A,-:0.34,-:NOT_FOUND,- 2 234600300 . t . . NT END=234601489;NT GT ./. 2 234600335 rs45549435 CAGGAG C 70 nt VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=444;Gene=UGT1A8/NM_019076.4/1;CC=c.855+73133_855+73137delAGGAG;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+54318_855+54322delAGGAG;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+18906_855+18910delAGGAG;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+8903_855+8907delAGGAG;VC=Intron;Gene=UGT1A6/NM_205862.1/1;CC=c.-133_-129delAGGAG;VC=5UTR;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAGGAG,C:60:15:0:24:36,24:1172,757:0.00,69.63:0.00,12.87:0.00,56.76:0.00,1.00:0.00,0.96:0.00,1.00:60,70:11.3,34.7:0,0:0,0:98,85:51,64:29,28:-,NM_205862.1(UGT1A6) c.-138AGGAG[1]:-,0.34:-,NOT_FOUND 2 234601669 rs6759892 T G 317 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=230;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.856-74011T>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+55646T>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+20234T>G;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+10231T>G;VC=Intron;Gene=UGT1A6/NM_205862.1/1;CC=c.-7-776T>G;VC=Intron;Gene=UGT1A6/NM_001072.3/0;CC=c.19T>G;ProtCh=p.S7A;VC=Missense;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:230:183:0:0:109,121:3340,4006:316.56,0.00:192.48,0.00:124.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,10.5:0,0:0,0:63,62:88,79:31,37:NM_001072.3(UGT1A6) c.19T>G (p.Ser7Ala),-:0.34,-:0.404198,- 2 234601965 rs1105880 A G 357 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=260;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.856-73715A>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+55942A>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+20530A>G;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+10527A>G;VC=Intron;Gene=UGT1A6/NM_205862.1/1;CC=c.-7-480A>G;VC=Intron;Gene=UGT1A6/NM_001072.3/0;CC=c.315A>G;ProtCh=p.L105=;VC=Silent;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:260:161:0:0:142,117,1:4269,3783,11:0.00,356.72,-0.19:0.00,156.11,-0.08:0.00,200.61,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.7,42.9,19.0:0,0,0:0,0,0:68,79,141:75,70,10:38,32,0:-,NM_001072.3(UGT1A6) c.315A>G (p.(=)):-,0.32:-,0.360526 2 234602191 rs2070959 A G 426 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=302;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.856-73489A>G;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+56168A>G;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+20756A>G;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+10753A>G;VC=Intron;Gene=UGT1A6/NM_205862.1/1;CC=c.-7-254A>G;VC=Intron;Gene=UGT1A6/NM_001072.3/0;CC=c.541A>G;ProtCh=p.T181A;VC=Missense;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:302:180:0:0:168,1,133:5060,12,4523:0.00,-0.17,426.10:0.00,-0.09,207.79:0.00,-0.07,218.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.4,69.0,70.0:0,0,0:0,0,0:69,112,87:78,14,64:35,0,40:-,NM_001072.3(UGT1A6) c.541A>G (p.Thr181Ala):-,0.27:-,0.304629 2 234602202 rs1105879 A C 410 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=289;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.856-73478A>C;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.855+56179A>C;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+20767A>C;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+10764A>C;VC=Intron;Gene=UGT1A6/NM_205862.1/1;CC=c.-7-243A>C;VC=Intron;Gene=UGT1A6/NM_001072.3/0;CC=c.552A>C;ProtCh=p.R184S;VC=Missense;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:289:172:0:0:160,128,1:5004,4353,7:0.00,410.45,-0.19:0.00,205.85,-0.09:0.00,204.60,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:11.2,70.4,74.0:0,0,0:0,0,0:74,80,100:73,69,51:31,38,0:-,NM_001072.3(UGT1A6) c.552A>C (p.Arg184Ser):-,0.3:-,0.33992 2 234602512 . G . . NT END=234621637;NT GT ./. 2 234622505 . G . . NT END=234627410;NT GT ./. 2 234627937 rs2011404 T C 476 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=309;DB;DBA=NA;PAF=NA;PC=0.151;Gene=UGT1A8/NM_019076.4/1;CC=c.856-47743T>C;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.856-47743T>C;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.855+46502T>C;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.855+36499T>C;VC=Intron;Gene=UGT1A6/NM_205862.1/1;CC=c.60+25426T>C;VC=Intron;Gene=UGT1A6/NM_001072.3/0;CC=c.861+25426T>C;VC=Intron;Gene=UGT1A5/NM_019078.1/1;CC=c.867+5433T>C;VC=Intron;Gene=UGT1A4/NM_007120.2/1;CC=c.471T>C;ProtCh=p.C157=;VC=Silent;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT;DM=UGT1A5/UDPGT;DM=UGT1A4/UDPGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:309:204:0:0:155,154:4951,5005:475.78,0.00:273.75,0.00:202.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,5.6:0,0:0,0:72,75:77,69:36,38:NM_007120.2(UGT1A4) c.471T>C (p.(=)),-:0.91,-:0.872905,- 2 234628334 . G . . NT END=234637772;NT GT ./. 2 234638640 . G . . NT END=234652124;NT GT ./. 2 234652563 . G . . NT END=234668911;NT GT ./. 2 234669798 . G . . NT END=234675679;NT GT ./. 2 234675812 . G . . NT END=234676494;NT GT ./. 2 234676583 . G . . NT END=234676865;NT GT ./. 2 234677086 . G . . NT END=234678176;NT GT ./. 2 234677228 rs544910925 CT C 52 idl,rn VT=DEL;SST=Single;DP=109;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.319;Gene=UGT1A8/NM_019076.4/1;CC=c.1295+165delT;VC=Intron;Gene=UGT1A10/NM_019075.2/1;CC=c.1295+165delT;VC=Intron;Gene=UGT1A9/NM_021027.2/1;CC=c.1295+165delT;VC=Intron;Gene=UGT1A7/NM_019077.2/1;CC=c.1295+165delT;VC=Intron;Gene=UGT1A6/NM_205862.1/1;CC=c.500+165delT;VC=Intron;Gene=UGT1A6/NM_001072.3/0;CC=c.1301+165delT;VC=Intron;Gene=UGT1A5/NM_019078.1/1;CC=c.1307+165delT;VC=Intron;Gene=UGT1A4/NM_007120.2/1;CC=c.1307+165delT;VC=Intron;Gene=UGT1A3/NM_019093.2/1;CC=c.1307+165delT;VC=Intron;Gene=UGT1A1/NM_000463.2/1;CC=c.1304+165delT;VC=Intron;DM=UGT1A8/UDPGT;DM=UGT1A10/UDPGT;DM=UGT1A9/UDPGT;DM=UGT1A7/UDPGT;DM=UGT1A5/UDPGT;DM=UGT1A4/UDPGT;DM=UGT1A3/UDPGT;DM=UGT1A1/UDPGT;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CT,T,I,C:94:0:11:36:1,55,9,8,21:11,1679,191,334,957:-0.10,0.00,11.99,17.13,51.50:0.00,0.00,0.00,0.00,0.00:-0.10,0.00,11.99,17.13,51.50:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:11.0,21.6,91.7,69.5,44.9:0,0,3,3,12:0,0,0,0,0:9,131,101,100,68:141,18,49,49,83:0,14,28,16,35:-,NM_000463.2(UGT1A1) c.1304+144delT:-,NOT_FOUND:-,NOT_FOUND 2 234678311 . G . . NT END=234680907;NT GT ./. 2 234681206 . G . . NT END=234688004;NT GT ./. 2 234681416 rs10929303 T C 101 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A10/NM_019075.2/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A9/NM_021027.2/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A7/NM_019077.2/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A6/NM_205862.1/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A6/NM_001072.3/0;CC=c.*211T>C;VC=3UTR;Gene=UGT1A5/NM_019078.1/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A4/NM_007120.2/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A3/NM_019093.2/1;CC=c.*211T>C;VC=3UTR;Gene=UGT1A1/NM_000463.2/1;CC=c.*211T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:0:0:0:39,37:1058,1135:101.38,0.00:0.00,0.00:101.38,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:40.2,12.5:0,0:0,0:103,115:46,36:32,18:NM_000463.2(UGT1A1) c.*211T>C,-:0.77,-:NOT_FOUND,- 2 234681544 rs1042640 G C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=UGT1A8/NM_019076.4/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A10/NM_019075.2/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A9/NM_021027.2/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A7/NM_019077.2/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A6/NM_205862.1/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A6/NM_001072.3/0;CC=c.*339G>C;VC=3UTR;Gene=UGT1A5/NM_019078.1/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A4/NM_007120.2/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A3/NM_019093.2/1;CC=c.*339G>C;VC=3UTR;Gene=UGT1A1/NM_000463.2/1;CC=c.*339G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:17:0:0:0:7,10:191,303:17.38,0.00:0.00,0.00:17.38,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:54.0,25.9:0,0:0,0:102,100:48,50:25,15:NM_000463.2(UGT1A1) c.*339G>C,-:0.82,-:NOT_FOUND,- 2 234688036 rs6431631 C A 77 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.095;Gene=MROH2A/NM_001287395.1/1;CC=c.32C>A;ProtCh=p.A11D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:66:50:0:0:27,39:832,1263:76.66,0.00:46.97,0.00:29.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,8.7:0,0:0,0:75,67:75,82:33,28:XM_291007.10(HEATR7B1) c.32C>A (p.Ala11Asp),-:0.83,-:NOT_FOUND,- 2 234688099 . G . . NT END=234688316;NT GT ./. 2 234688499 . G . . NT END=234698142;NT GT ./. 2 234698275 . G . . NT END=234698497;NT GT ./. 2 234698661 . G . . NT END=234701441;NT GT ./. 2 234701541 . G . . NT END=234702318;NT GT ./. 2 234702212 rs6738710 G C 73 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.671-107G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:57:54:0:0:27,30:768,871:72.51,0.00:62.76,0.00:9.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,7.0:0,0:0,0:57,46:94,104:41,28:XM_291007.10(HEATR7B1) c.671-107G>C,-:0.27,-:NOT_FOUND,- 2 234702459 rs1500481 T C 132 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=108;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.811T>C;ProtCh=p.Y271H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:108:66:0:0:45,63:1429,2028:132.47,0.00:41.39,0.00:91.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,10.8:0,0:0,0:80,85:61,63:32,31:XM_291007.10(HEATR7B1) c.811T>C (p.Tyr271His),-:0.64,-:NOT_FOUND,- 2 234702471 . G . . NT END=234703008;NT GT ./. 2 234702905 rs10169532 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.823-104C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:22:0:0:14,8:453,253:0.00,22.86:0.00,21.09:0.00,1.77:0.00,0.99:0.00,0.99:0.00,0.58:60,60:23.3,32.8:0,0:0,0:75,18:74,129:19,9:-,XM_291007.10(HEATR7B1) c.823-104C>T:-,0.36:-,NOT_FOUND 2 234703127 . G . . NT END=234704263;NT GT ./. 2 234703136 rs6431634 T C 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.963;Gene=MROH2A/NM_001287395.1/1;CC=c.940+10T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:33:19:0:0:12,1,20:391,7,648:35.63,-0.14,0.00:15.04,-0.09,0.00:20.58,-0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.2,138.0,10.4:0,0,0:0,0,0:90,0,103:60,151,34:22,0,23:XM_291007.10(HEATR7B1) c.940+10T>C,-:0.65,-:NOT_FOUND,- 2 234704150 rs2885297 T C 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.941-114T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:34:0:0:22,15:709,496:70.55,0.00:48.26,0.00:22.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,10.4:0,0:0,0:53,31:97,120:33,23:XM_291007.10(HEATR7B1) c.941-114T>C,-:0.88,-:NOT_FOUND,- 2 234704318 rs2361503 A G 169 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=NA;PC=0.996;Gene=MROH2A/NM_001287395.1/1;CC=c.995A>G;ProtCh=p.E332G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:118:87:0:0:62,56:1956,1776:0.00,168.84:0.00,90.10:0.00,78.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,38.1:0,0:0,0:75,72:72,77:28,39:-,XM_291007.10(HEATR7B1) c.995A>G (p.Glu332Gly):-,0.66:-,NOT_FOUND 2 234704392 . G . . NT END=234704612;NT GT ./. 2 234704495 rs11563248 T G 118 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1068+104T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:66:36:0:0:1,37,28:34,1201,829:1.87,118.50,0.00:-0.09,53.01,0.00:1.96,65.49,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:34.0,37.3,10.7:0,0,0:0,0,0:112,98,105:39,53,46:0,39,23:XM_291007.10(HEATR7B1) c.1068+104T>G,-:0.62,-:NOT_FOUND,- 2 234704690 rs759173 T C 133 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;PC=0.211;Gene=MROH2A/NM_001287395.1/1;CC=c.1146T>C;ProtCh=p.L382=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:96:65:0:0:45,51:1405,1613:133.07,0.00:74.43,0.00:58.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.5,7.2:0,0:0,0:99,101:50,50:26,30:XM_291007.10(HEATR7B1) c.1146T>C (p.(=)),-:0.89,-:NOT_FOUND,- 2 234704692 . G . . NT END=234704845;NT GT ./. 2 234704746 rs759172 G C 110 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1147+55G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:66:32:0:0:1,35,30:8,1131,979:-0.11,110.28,0.00:-0.09,37.54,0.00:-0.02,72.74,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:71.0,66.4,7.8:0,0,0:0,0,0:109,96,91:42,55,56:0,32,34:XM_291007.10(HEATR7B1) c.1147+55G>C,-:0.95,-:NOT_FOUND,- 2 234704960 . G . . NT END=234707419;NT GT ./. 2 234707341 rs1500479 T C 135 nt VT=SNV;PN=G;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1262-79T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:32:0:0:36:1183:135.40:105.39:30.01:1.00:1.00:1.00:60:45.6:0:0:36:114:27:XM_291007.10(HEATR7B1) c.1262-79T>C,XM_291007.10(HEATR7B1) c.1262-79T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 2 234707497 . G . . NT END=234708425;NT GT ./. 2 234708152 rs9808231 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1339-274C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:112:13.11:13.11:0.00:1.00:1.00:0.00:60:32.2:0:0:33:116:8:XM_291007.10(HEATR7B1) c.1339-274C>T,XM_291007.10(HEATR7B1) c.1339-274C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 2 234708428 rs13013882 G A 108 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MROH2A/NM_001287395.1/1;CC=c.1341G>A;ProtCh=p.V447=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:64:0:0:37,45:1146,1537:107.68,0.00:54.24,0.00:53.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,14.5:0,0:0,0:81,69:62,82:31,33:XM_291007.10(HEATR7B1) c.1341G>A (p.(=)),-:0.62,-:NOT_FOUND,- 2 234708546 . G . . NT END=234708850;NT GT ./. 2 234708570 rs11563069 G A 225 nt VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1458+25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:175:A:62:30:0:0:62:1954:224.91:78.41:146.50:1.00:1.00:1.00:60:50.9:0:0:101:46:22:XM_291007.10(HEATR7B1) c.1458+25G>A,XM_291007.10(HEATR7B1) c.1458+25G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 2 234708629 rs13018934 G A 138 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MROH2A/NM_001287395.1/1;CC=c.1458+84G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:13:0:0:39:1198:138.30:38.74:99.56:1.00:1.00:1.00:60:69.1:0:0:111:39:32:XM_291007.10(HEATR7B1) c.1458+84G>A,XM_291007.10(HEATR7B1) c.1458+84G>A:0.64,0.64:NOT_FOUND,NOT_FOUND 2 234708720 rs2041652 T G 110 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1459-131T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:16:0:0:32:947:109.83:55.77:54.06:1.00:1.00:1.00:60:49.8:0:0:58:93:35:XM_291007.10(HEATR7B1) c.1459-131T>G,XM_291007.10(HEATR7B1) c.1459-131T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 2 234708868 rs11563246 G C 112 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.012;Gene=MROH2A/NM_001287395.1/1;CC=c.1476G>C;ProtCh=p.K492N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:68:53:0:0:34,34:1167,1099:112.48,0.00:56.03,0.00:56.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,7.0:0,0:0,0:53,57:96,90:29,26:XM_291007.10(HEATR7B1) c.1476G>C (p.Lys492Asn),-:0.25,-:NOT_FOUND,- 2 234708962 . G . . NT END=234710813;NT GT ./. 2 234710666 rs10929305 G A 54 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1570-148G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:34:0:0:17,17:557,516:53.58,0.00:53.58,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.8,14.8:0,0:0,0:42,61:109,90:34,26:XM_291007.10(HEATR7B1) c.1570-148G>A,-:0.35,-:NOT_FOUND,- 2 234710831 rs10929306 G C 130 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=NA;PC=0.421;Gene=MROH2A/NM_001287395.1/1;CC=c.1587G>C;ProtCh=p.L529=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:99:76:0:0:42,57:1395,1861:130.26,0.00:71.75,0.00:58.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,8.4:0,0:0,0:83,71:60,69:37,38:XM_291007.10(HEATR7B1) c.1587G>C (p.(=)),-:0.35,-:NOT_FOUND,- 2 234710962 . G . . NT END=234712093;NT GT ./. 2 234711008 rs741158 G T 113 nt VT=SNV;PN=G;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1717+47G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:79:36:0:0:1,40,38:9,1292,1185:-0.13,0.00,113.10:-0.08,0.00,30.13:-0.05,0.00,82.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:94.0,10.4,37.6:0,0,0:0,0,0:27,99,100:124,48,51:0,20,23:-,XM_291007.10(HEATR7B1) c.1717+47G>T:-,0.25:-,NOT_FOUND 2 234711164 rs741157 T C 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MROH2A/NM_001287395.1/1;CC=c.1717+203T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:9,9:302,277:29.08,0.00:0.00,0.00:29.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:49.7,34.6:0,0:0,0:109,71:42,80:33,33:XM_291007.10(HEATR7B1) c.1717+203T>C,-:0.35,-:NOT_FOUND,- 2 234712127 rs182734868 G T 159 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=2;PC=1.000;Gene=MROH2A/NM_001287395.1/1;CC=c.1751G>T;ProtCh=p.R584L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:100:72:0:0:49,51:1541,1651:0.00,159.35:0.00,80.27:0.00,79.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,48.9:0,0:0,0:76,82:61,59:28,30:-,XM_291007.10(HEATR7B1) c.1751G>T (p.Arg584Leu):-,0.0005:-,NOT_FOUND 2 234712135 . G . . NT END=234712696;NT GT ./. 2 234712652 rs11562982 C A 85 nt VT=SNV;PN=G;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1759-45C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:77:71:0:0:30,47:934,1606:85.31,0.00:79.31,0.00:6.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,6.4:0,0:0,0:39,39:108,112:22,26:XM_291007.10(HEATR7B1) c.1759-45C>A,-:0.34,-:NOT_FOUND,- 2 234712839 . G . . NT END=234713140;NT GT ./. 2 234712921 rs10175949 G A 263 nt VT=SNV;PN=C;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1900+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:75:20:0:0:74,1:2281,10:262.78,0.13:54.95,0.00:207.83,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,86.0:0,0:0,0:106,90:44,61:26,0:XM_291007.10(HEATR7B1) c.1900+83G>A,XM_291007.10(HEATR7B1) c.1900+83G>A:0.89,0.89:NOT_FOUND,NOT_FOUND 2 234713194 . G . . NT END=234713649;NT GT ./. 2 234713429 rs6716168 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1954-221C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:C,T:8:3:0:0:2,6:43,193:0.00,20.25:0.00,6.70:0.00,13.55:0.00,1.00:0.00,0.99:0.00,1.00:60,60:108.0,35.3:0,0:0,0:39,109:111,41:16,25:-,XM_291007.10(HEATR7B1) c.1954-221C>T:-,0.46:-,NOT_FOUND 2 234713479 rs11563243 T A 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1954-171T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:A,T:11:9:0:0:4,7:108,206:9.56,0.00:8.84,0.00:0.72,0.00:0.82,0.00:0.97,0.00:0.66,0.00:60,60:87.0,30.7:0,0:0,0:59,46:91,105:21,42:XM_291007.10(HEATR7B1) c.1954-171T>A,-:0.34,-:NOT_FOUND,- 2 234713571 rs11563242 C A 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.1954-79C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:20:19:0:0:12,8:403,244:40.18,0.00:37.22,0.00:2.96,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:43.9,25.5:0,0:0,0:35,69:115,81:24,39:XM_291007.10(HEATR7B1) c.1954-79C>A,-:0.34,-:NOT_FOUND,- 2 234713681 rs79208193 G T 72 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MROH2A/NM_001287395.1/1;CC=c.1985G>T;ProtCh=p.G662V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:66:56:0:0:41,25:1253,794:0.00,72.31:0.00,43.25:0.00,29.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.7,41.8:0,0:0,0:65,61:74,86:29,28:-,XM_291007.10(HEATR7B1) c.1985G>T (p.Gly662Val):-,0.03:-,NOT_FOUND 2 234713706 rs4430949 T C 151 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MROH2A/NM_001287395.1/1;CC=c.2010T>C;ProtCh=p.S670=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:52:0:0:44,26:1502,814:151.09,0.00:65.71,0.00:85.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,46.5:0,0:0,0:68,78:70,62:35,39:XM_291007.10(HEATR7B1) c.2010T>C (p.(=)),-:0.34,-:NOT_FOUND,- 2 234713758 . G . . NT END=234716068;NT GT ./. 2 234713812 rs2041651 G T 111 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2061+55G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:9:0:0:29:972:111.03:17.40:93.63:1.00:1.00:1.00:60:53.4:0:0:108:43:24:XM_291007.10(HEATR7B1) c.2061+55G>T,XM_291007.10(HEATR7B1) c.2061+55G>T:0.8,0.8:NOT_FOUND,NOT_FOUND 2 234716027 rs112570954 T A 131 nt VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2062-42T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:75:73:0:0:40,35:1340,1166:130.59,0.00:103.75,0.00:26.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,5.1:0,0:0,0:33,48:117,98:21,28:XM_291007.10(HEATR7B1) c.2062-42T>A,-:0.04,-:NOT_FOUND,- 2 234716189 . G . . NT END=234716378;NT GT ./. 2 234716309 rs6716876 G A 214 nt VT=SNV;PN=C;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2182-70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:133:86:0:1:70,63:2205,1976:213.93,0.00:120.03,0.00:93.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.4,12.0:0,0:0,0:64,52:84,96:39,37:XM_291007.10(HEATR7B1) c.2182-70G>A,-:0.33,-:NOT_FOUND,- 2 234716426 rs11563241 G A 239 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=NA;PC=0.955;Gene=MROH2A/NM_001287395.1/1;CC=c.2229G>A;ProtCh=p.T743=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:74:0:0:74,60:2435,1892:238.68,0.00:109.93,0.00:128.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.6,4.6:0,0:0,0:92,75:59,74:31,40:XM_291007.10(HEATR7B1) c.2229G>A (p.(=)),-:0.34,-:NOT_FOUND,- 2 234716502 . G . . NT END=234717771;NT GT ./. 2 234717448 rs12053445 T G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2305-324T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:16:G,T:5:5:0:0:4,1:131,23:13.92,0.00:13.92,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:110.0,70.0:0,0:0,0:32,40:119,111:4,0:XM_291007.10(HEATR7B1) c.2305-324T>G,-:0.43,-:NOT_FOUND,- 2 234717498 rs12053058 G C 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2305-274G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:223:25.59:25.59:0.00:1.00:1.00:0.00:60:92.6:0:0:81:70:9:XM_291007.10(HEATR7B1) c.2305-274G>C,XM_291007.10(HEATR7B1) c.2305-274G>C:0.69,0.69:NOT_FOUND,NOT_FOUND 2 234717516 rs12053059 G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2305-256G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:11:0:0:11:349:40.11:40.11:0.00:1.00:1.00:0.00:60:80.6:1:0:49:101:41:XM_291007.10(HEATR7B1) c.2305-256G>A,XM_291007.10(HEATR7B1) c.2305-256G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 2 234717669 rs10803663 A G 148 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2305-103A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:39:0:0:42:1276:147.62:123.17:24.45:1.00:1.00:1.00:60:40.6:0:0:29:121:22:XM_291007.10(HEATR7B1) c.2305-103A>G,XM_291007.10(HEATR7B1) c.2305-103A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 2 234717925 . G . . NT END=234719439;NT GT ./. 2 234719563 . G . . NT END=234720525;NT GT ./. 2 234720606 . G . . NT END=234722315;NT GT ./. 2 234720734 rs988344 A C 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.2660+129A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:0:0:0:7:184:21.61:0.00:21.61:1.00:0.00:1.00:60:35.4:0:0:126:25:21:XM_291007.10(HEATR7B1) c.2660+129A>C,XM_291007.10(HEATR7B1) c.2660+129A>C:0.87,0.87:NOT_FOUND,NOT_FOUND 2 234722425 . G . . NT END=234723227;NT GT ./. 2 234723324 . G . . NT END=234725426;NT GT ./. 2 234725502 rs726016 T C 232 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.035;Gene=MROH2A/NM_001287395.1/1;CC=c.2941T>C;ProtCh=p.W981R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:A,C:66:31:0:0:1,65:12,2019:0.22,232.39:0.00,68.61:0.22,163.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.0,35.9:0,0:0,0:37,88:114,57:0,28:XM_291007.10(HEATR7B1) c.2941T>C (p.Trp981Arg),XM_291007.10(HEATR7B1) c.2941T>C (p.Trp981Arg):0.84,0.84:NOT_FOUND,NOT_FOUND 2 234725532 . G . . NT END=234726647;NT GT ./. 2 234726772 . G . . NT END=234727297;NT GT ./. 2 234727250 rs719419 T G 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.3095-48T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:A,G:22:20:0:0:1,21:10,661:0.34,75.69:0.34,59.04:0.00,16.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:153.0,34.9:0,0:0,0:35,40:116,111:0,20:XM_291007.10(HEATR7B1) c.3095-48T>G,XM_291007.10(HEATR7B1) c.3095-48T>G:0.47,0.47:NOT_FOUND,NOT_FOUND 2 234727417 . G . . NT END=234727962;NT GT ./. 2 234727478 rs6759919 A G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.3213+62A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:5:0:0:8,12:238,370:0.00,36.85:0.00,6.17:0.00,30.68:0.00,1.00:0.00,0.78:0.00,1.00:60,60:34.9,43.6:0,0:0,0:95,74:54,76:19,26:-,XM_291007.10(HEATR7B1) c.3213+62A>G:-,0.32:-,NOT_FOUND 2 234727615 rs6431636 G A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=93;Gene=MROH2A/NM_001287395.1/1;CC=c.3213+199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:4:0:0:8:258:29.61:15.11:14.51:1.00:1.00:1.00:60:36.4:0:0:99:52:31:XM_291007.10(HEATR7B1) c.3213+199G>A,XM_291007.10(HEATR7B1) c.3213+199G>A:1,1:NOT_FOUND,NOT_FOUND 2 234727986 rs6754859 C T 436 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.012;Gene=MROH2A/NM_001287395.1/1;CC=c.3237C>T;ProtCh=p.C1079=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:121:93:0:0:121:3787:436.17:259.96:176.21:1.00:1.00:1.00:60:55.6:0:0:59:86:35:XM_291007.10(HEATR7B1) c.3237C>T (p.(=)),XM_291007.10(HEATR7B1) c.3237C>T (p.(=)):0.47,0.47:NOT_FOUND,NOT_FOUND 2 234728078 rs1500480 T C 475 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=130;DB;DBA=NA;PAF=NA;PC=0.162;Gene=MROH2A/NM_001287395.1/1;CC=c.3329T>C;ProtCh=p.F1110S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:130:87:0:0:128,1,1:4166,9,10:475.26,0.06,0.00:235.50,0.06,0.00:239.76,-0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.7,185.0,76.0:0,0,0:0,0,0:90,63,43:56,88,108:33,0,0:XM_291007.10(HEATR7B1) c.3329T>C (p.Phe1110Ser),XM_291007.10(HEATR7B1) c.3329T>C (p.Phe1110Ser):0.84,0.84:NOT_FOUND,NOT_FOUND 2 234728116 . G . . NT END=234728547;NT GT ./. 2 234728703 . G . . NT END=234730769;NT GT ./. 2 234730930 . G . . NT END=234731008;NT GT ./. 2 234731218 . G . . NT END=234731526;NT GT ./. 2 234731665 . G . . NT END=234732201;NT GT ./. 2 234731883 rs7603146 A G 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.008;Gene=MROH2A/NM_001287395.1/1;CC=c.4028+219A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:4:0:0:10:327:37.44:16.11:21.33:1.00:1.00:1.00:60:62.2:0:0:108:42:18:XM_291007.10(HEATR7B1) c.4028+219A>G,XM_291007.10(HEATR7B1) c.4028+219A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 234732317 rs11676792 A G 251 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=140;DB;DBA=NA;PAF=NA;PC=0.999;Gene=MROH2A/NM_001287395.1/1;CC=c.4144A>G;ProtCh=p.M1382V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:140:78:0:0:62,78:1959,2560:0.00,251.45:0.00,84.28:0.00,167.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,44.4:0,0:0,0:91,96:58,48:33,29:-,XM_291007.10(HEATR7B1) c.4144A>G (p.Met1382Val):-,0.59:-,NOT_FOUND 2 234732329 . G . . NT END=234737275;NT GT ./. 2 234737426 . G . . NT END=234737535;NT GT ./. 2 234737719 . G . . NT END=234738265;NT GT ./. 2 234737976 rs7419343 G C 11 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4488+258G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,G:6:2:0:0:4,2:108,71:11.03,0.00:1.00,0.00:10.03,0.00:0.93,0.00:0.91,0.00:0.99,0.00:60,60:32.2,0.0:0,0:0,0:114,111:36,37:11,27:XM_291007.10(HEATR7B1) c.4488+258G>C,-:0.51,-:NOT_FOUND,- 2 234738175 rs502059 A G 67 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4489-91A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:46:43:0:0:23,22,1:729,696,12:0.00,66.52,0.07:0.00,50.24,0.09:0.00,16.28,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:15.3,34.8,39.0:0,0,0:0,0,0:34,30,46:117,118,105:26,13,0:-,XM_291007.10(HEATR7B1) c.4489-91A>G:-,0.6:-,NOT_FOUND 2 234738422 . G . . NT END=234740054;NT GT ./. 2 234738472 rs582432 G A 79 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4644+51G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:13:0:0:26,21:811,674:79.42,0.00:19.49,0.00:59.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,4.7:0,0:0,0:115,116:35,32:26,19:XM_291007.10(HEATR7B1) c.4644+51G>A,-:0.58,-:NOT_FOUND,- 2 234739870 rs213546 C A 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4645-185C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:22:0:0:15,8:464,260:47.06,0.00:47.52,0.00:-0.46,0.00:1.00,0.00:1.00,0.00:0.77,0.00:60,60:45.3,4.9:0,0:0,0:34,34:117,117:24,33:XM_291007.10(HEATR7B1) c.4645-185C>A,-:0.44,-:NOT_FOUND,- 2 234740187 . G . . NT END=234740822;NT GT ./. 2 234740758 rs213547 A G 54 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MROH2A/NM_001287395.1/1;CC=c.4777-65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:40:0:0:24,19:773,578:0.00,54.05:0.00,45.00:0.00,9.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.6,63.5:0,0:0,0:46,30:103,121:30,16:-,XM_291007.10(HEATR7B1) c.4777-65A>G:-,0.51:-,NOT_FOUND 2 234740797 rs76276350 C CAAAA 72 nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.003;Gene=MROH2A/NM_001287395.1/1;CC=c.4777-26_4777-25insAAAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAAAA:59:49:25:0:34,25:1177,771:0.00,71.55:0.00,46.51:0.00,25.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,57.4:0,0:0,0:56,53:93,95:30,20:-,XM_291007.10(HEATR7B1) c.4777-26_4777-25insAAAA:-,0.5:-,NOT_FOUND 2 234740798 rs67307514 T A 74 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4777-25T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:58:47:0:0:25,33:789,1141:73.57,0.00:44.71,0.00:28.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.8,3.0:25,0:0,0:54,56:93,93:19,31:XM_291007.10(HEATR7B1) c.4777-25T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 234740926 . G . . NT END=234741224;NT GT ./. 2 234740985 rs474242 G A 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4879+60G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:11:0:0:20,26:635,825:59.33,0.00:3.86,0.00:55.47,0.00:1.00,0.00:0.99,0.00:1.00,0.00:70,60:87.7,4.9:0,0:0,0:107,91:43,59:26,29:XM_291007.10(HEATR7B1) c.4879+60G>A,-:0.4,-:NOT_FOUND,- 2 234740987 rs658482 C G 56 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4879+62C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:44:11:0:0:25,19:877,602:0.00,56.17:0.00,3.77:0.00,52.39:0.00,1.00:0.00,0.99:0.00,1.00:60,70:5.1,92.2:0,0:0,0:96,107:52,43:28,16:-,XM_291007.10(HEATR7B1) c.4879+62C>G:-,0.51:-,NOT_FOUND 2 234741022 rs122856 T C 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=MROH2A/NM_001287395.1/1;CC=c.4879+97T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:10:0:0:18,19:499,613:47.25,0.00:7.07,0.00:40.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:89.4,3.8:0,0:0,0:73,118:74,33:46,20:XM_291007.10(HEATR7B1) c.4879+97T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 234741028 rs5839496 A AG 49 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=63;Gene=MROH2A/NM_001287395.1/1;CC=c.4879+103_4879+104insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AG:34:9:16:0:18,16:588,511:0.00,48.52:0.00,5.04:0.00,43.48:0.00,1.00:0.00,0.99:0.00,1.00:60,70:1.2,88.2:0,0:0,0:117,73:33,77:19,40:-,XM_291007.10(HEATR7B1) c.4879+103_4879+104insG:-,0.51:-,NOT_FOUND 2 234741291 . G . . NT END=234741783;NT GT ./. 2 234741906 . G . . NT END=234746221;NT GT ./. 2 234746299 . C . . NT END=234749253;NT GT ./. 2 234746303 . G GA 7 rn VT=INS;SST=Single;DP=35;NP=2;Gene=HJURP/NM_001282962.1/0;CC=c.2010-6dupT;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.1917-6dupT;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.2172-6dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,G,GA,D:35:18:3:3:1,28,3,3:11,863,98,87:-0.06,0.00,6.95,5.85:-0.13,0.00,2.32,1.02:0.07,0.00,4.62,4.84:0.00,0.00,0.40,0.00:0.00,0.00,0.69,0.00:0.00,0.00,0.84,0.00:60,60,60,60:43.0,7.8,3.3,53.7:0,0,0,0:0,0,0,0:7,88,86,70:143,55,50,69:0,34,14,8:-,NM_018410.3(HJURP) c.2172-6_2172-5insT:-,NOT_FOUND:-,NOT_FOUND 2 234749151 rs213555 C T 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.2009+104G>A;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.1916+104G>A;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.2171+104G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:26:26:0:0:1,11,14:10,339,388:0.11,0.00,37.97:0.12,0.00,34.73:-0.01,0.00,3.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.91:60,60,60:133.0,8.5,41.9:0,0,0:0,0,0:112,56,26:38,94,124:0,27,21:-,NM_018410.3(HJURP) c.2171+104G>A:-,0.65:-,NOT_FOUND 2 234750542 rs3732215 G C 154 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.722C>G;ProtCh=p.S241C;VC=Missense;Gene=HJURP/NM_001282963.1/0;CC=c.629C>G;ProtCh=p.S210C;VC=Missense;Gene=HJURP/NM_018410.4/1;CC=c.884C>G;ProtCh=p.S295C;VC=Missense;DM=HJURP/HJURP_mid;DM=HJURP/HJURP_mid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:107:67:0:0:48,58,1:1629,1835,7:154.12,0.00,-0.19:68.70,0.00,-0.11:85.42,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,6.2,65.0:0,0,0:0,0,0:62,53,59:87,95,91:35,32,0:NM_018410.3(HJURP) c.884C>G (p.Ser295Cys),-:0.41,-:0.407427,- 2 234750831 rs3806589 T C 80 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.433A>G;ProtCh=p.R145G;VC=Missense;Gene=HJURP/NM_001282963.1/0;CC=c.340A>G;ProtCh=p.R114G;VC=Missense;Gene=HJURP/NM_018410.4/1;CC=c.595A>G;ProtCh=p.R199G;VC=Missense;DM=HJURP/HJURP_mid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:29:0:0:27,33:850,1062:79.95,0.00:30.19,0.00:49.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,11.1:0,0:0,0:88,99:62,52:39,38:NM_018410.3(HJURP) c.595A>G (p.Arg199Gly),-:0.72,-:0.666846,- 2 234750852 . C . . NT END=234752849;NT GT ./. 2 234752930 . C . . NT END=234754372;NT GT ./. 2 234753008 rs169925 G A 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.334-79C>T;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.241-79C>T;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.496-79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:10:0:0:18,21:572,689:54.10,0.00:7.81,0.00:46.29,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:36.1,5.1:0,0:0,0:95,119:52,32:37,11:NM_018410.3(HJURP) c.496-79C>T,-:0.74,-:NOT_FOUND,- 2 234754273 rs2302156 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.333+101A>G;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.241-1344A>G;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.495+101A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:9:9:0:0:5,4:158,124:15.50,0.00:15.50,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:51.6,5.8:0,0:0,0:64,52:87,98:38,27:NM_018410.3(HJURP) c.495+101A>G,-:0.59,-:NOT_FOUND,- 2 234754467 . C . . NT END=234756042;NT GT ./. 2 234754506 rs2302155 G A 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.241-40C>T;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.241-1577C>T;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.403-40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:10:0:0:12,15:348,488:32.41,0.00:7.74,0.00:24.67,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:38.8,13.0:0,0:0,0:110,93:33,48:19,19:NM_018410.3(HJURP) c.403-40C>T,-:0.4,-:0.393818,- 2 234756108 . C . . NT END=234758408;NT GT ./. 2 234756240 rs2286431 G A 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.241-1774C>T;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.241-3311C>T;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.338-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:10,6:296,197:29.74,0.00:0.00,0.00:29.74,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.2,0.0:0,0:0,0:114,87:35,63:33,34:NM_018410.3(HJURP) c.338-133C>T,-:0.4,-:NOT_FOUND,- 2 234758506 . C . . NT END=234761209;NT GT ./. 2 234761225 rs2286430 C T 69 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.226G>A;ProtCh=p.E76K;VC=Missense;Gene=HJURP/NM_001282963.1/0;CC=c.226G>A;ProtCh=p.E76K;VC=Missense;Gene=HJURP/NM_018410.4/1;CC=c.226G>A;ProtCh=p.E76K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:29:0:0:18,21:610,711:0.00,69.43:0.00,31.36:0.00,38.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,40.3:0,0:0,0:62,35:84,105:33,23:-,NM_018410.3(HJURP) c.226G>A (p.Glu76Lys):-,0.4:-,0.393049 2 234761267 . C . . NT END=234762488;NT GT ./. 2 234761355 rs554699 G A 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.185-89C>T;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.185-89C>T;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.185-89C>T;VC=Intron;DM=HJURP/Scm3;DM=HJURP/Scm3;DM=HJURP/Scm3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:8:0:0:9,11:314,363:29.72,0.00:6.74,0.00:22.98,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:44.4,21.0:0,0:0,0:123,124:26,27:16,7:NM_018410.3(HJURP) c.185-89C>T,-:0.64,-:NOT_FOUND,- 2 234762480 rs626110 A T 61 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.184+10T>A;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.184+10T>A;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.184+10T>A;VC=Intron;DM=HJURP/Scm3;DM=HJURP/Scm3;DM=HJURP/Scm3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:36:30:0:0:17,19:509,630:0.00,61.28:0.00,43.13:0.00,18.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,42.8:0,0:0,0:23,38:123,108:13,18:-,NM_018410.3(HJURP) c.184+10T>A:-,0.58:-,0.591881 2 234762557 . C . . NT END=234763028;NT GT ./. 2 234762676 rs532457787 G T 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;NP=8;Gene=HJURP/NM_001282962.1/0;CC=c.118-120C>A;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.118-120C>A;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.118-120C>A;VC=Intron;DM=HJURP/Scm3;DM=HJURP/Scm3;DM=HJURP/Scm3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:19:0:0:0:10,9:313,288:0.00,27.40:0.00,0.00:0.00,27.40:0.00,1.00:0.00,0.00:0.00,1.00:60,60:32.5,32.0:0,0:0,0:78,134:73,17:43,10:-,NM_018410.3(HJURP) c.118-120C>A:-,NOT_FOUND:-,NOT_FOUND 2 234762738 rs917433 A T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=HJURP/NM_001282962.1/0;CC=c.118-182T>A;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.118-182T>A;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.118-182T>A;VC=Intron;DM=HJURP/Scm3;DM=HJURP/Scm3;DM=HJURP/Scm3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:A,T:11:2:0:0:4,7:113,201:0.00,20.29:0.00,-0.88:0.00,21.17:0.00,1.00:0.00,0.89:0.00,1.00:60,60:27.5,46.4:0,0:0,0:38,93:112,58:5,9:-,NM_018410.3(HJURP) c.118-182T>A:-,0.4:-,NOT_FOUND 2 234762898 rs501145 C T 22 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.008;Gene=HJURP/NM_001282962.1/0;CC=c.117+132G>A;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.117+132G>A;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.117+132G>A;VC=Intron;DM=HJURP/Scm3;DM=HJURP/Scm3;DM=HJURP/Scm3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:13:0:0:6,8:207,222:0.00,21.83:0.00,20.63:0.00,1.20:0.00,1.00:0.00,1.00:0.00,0.71:60,60:4.0,89.5:0,0:0,0:41,54:109,97:21,17:-,NM_018410.3(HJURP) c.117+132G>A:-,0.58:-,NOT_FOUND 2 234762924 rs917432 C G 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.003;Gene=HJURP/NM_001282962.1/0;CC=c.117+106G>C;VC=Intron;Gene=HJURP/NM_001282963.1/0;CC=c.117+106G>C;VC=Intron;Gene=HJURP/NM_018410.4/1;CC=c.117+106G>C;VC=Intron;DM=HJURP/Scm3;DM=HJURP/Scm3;DM=HJURP/Scm3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:21:20:0:0:8,12,1:254,342,11:0.00,34.04,0.25:0.00,30.31,0.25:0.00,3.73,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.71,0.00:60,60,60:17.2,64.2,168.0:0,0,0:0,0,0:56,40,68:95,111,81:30,36,0:-,NM_018410.3(HJURP) c.117+106G>C:-,0.44:-,NOT_FOUND 2 234763147 . C . . NT END=234835182;NT GT ./. 2 234763226 rs503913 C T 49 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:4:0:0:15,17:492,509:0.00,49.36:0.00,1.14:0.00,48.22:0.00,1.00:0.00,0.95:0.00,1.00:60,60:16.2,40.8:0,0:0,0:81,103:70,48:47,21:-,NM_018410.3(HJURP) c.-66-u14G>A:-,0.65:-,NOT_FOUND 2 234835300 . G . . NT END=234839312;NT GT ./. 2 234839387 . G . . NT END=234845996;NT GT ./. 2 234839404 rs4663987 C T 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=TRPM8/NM_024080.4/1;CC=c.191+18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:13:0:0:18,12:572,395:0.00,36.47:0.00,10.37:0.00,26.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,38.8:0,0:0,0:83,123:65,21:26,18:-,NM_024080.4(TRPM8) c.191+18C>T:-,0.2:-,0.218361 2 234846154 . G . . NT END=234847641;NT GT ./. 2 234846198 rs1019103 G A 227 nt VT=SNV;PN=A;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;NP=3465;Gene=TRPM8/NM_024080.4/1;CC=c.348+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:A:62:19:0:0:62:1971:226.63:40.06:186.57:1.00:1.00:1.00:60:43.6:0:0:96:53:26:NM_024080.4(TRPM8) c.348+45G>A,NM_024080.4(TRPM8) c.348+45G>A:1,1:NOT_FOUND,NOT_FOUND 2 234847573 rs9646720 A G 58 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TRPM8/NM_024080.4/1;CC=c.349-69A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:45:38:0:0:24,1,20:716,5,613:0.00,-0.18,57.67:0.00,-0.17,44.84:0.00,-0.01,12.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.8,14.0,41.7:0,0,0:0,0,0:34,32,63:111,119,87:28,0,35:-,NM_024080.4(TRPM8) c.349-69A>G:-,0.33:-,NOT_FOUND 2 234847820 . G . . NT END=234851219;NT GT ./. 2 234847823 rs2302153 A C 140 nt VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=NA;Gene=TRPM8/NM_024080.4/1;CC=c.526+4A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:95:34:0:0:45,50:1425,1451:0.00,140.17:0.00,30.77:0.00,109.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,33.3:0,0:0,0:86,94:65,52:44,36:-,NM_024080.4(TRPM8) c.526+4A>C:-,0.35:-,0.284561 2 234851393 . G . . NT END=234854499;NT GT ./. 2 234854550 rs11562975 G C 139 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.380;Gene=TRPM8/NM_024080.4/1;CC=c.750G>C;ProtCh=p.L250=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:79:67:0:0:43,35,1:1417,1156,9:138.90,0.00,-0.10:82.54,0.00,-0.04:56.36,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,3.3,19.0:0,0,0:0,0,0:52,88,113:98,59,38:31,33,0:NM_024080.4(TRPM8) c.750G>C (p.(=)),-:0.11,-:0.076042,- 2 234854675 . G . . NT END=234855731;NT GT ./. 2 234854934 rs10929319 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.007;Gene=TRPM8/NM_024080.4/1;CC=c.874+260A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:4:0:0:0:1,3:32,100:0.00,10.45:0.00,0.00:0.00,10.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:34.0,53.7:0,0:0,0:143,95:7,56:0,19:-,NM_024080.4(TRPM8) c.874+260A>G:-,0.47:-,NOT_FOUND 2 234855800 . G . . NT END=234855969;NT GT ./. 2 234856227 . G . . NT END=234858592;NT GT ./. 2 234856421 rs10170647 T G 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=TRPM8/NM_024080.4/1;CC=c.942+622T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:G,T:15:0:0:0:5,10:152,330:13.43,0.00:0.00,0.00:13.43,0.00:0.89,0.00:0.00,0.00:0.89,0.00:60,60:34.8,3.0:0,0:0,0:30,118:118,33:13,27:NM_024080.4(TRPM8) c.942+622T>G,-:0.18,-:NOT_FOUND,- 2 234858791 . G . . NT END=234862560;NT GT ./. 2 234862664 . G . . NT END=234863775;NT GT ./. 2 234863570 rs4663991 T A 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=TRPM8/NM_024080.4/1;CC=c.1244-206T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,T:13:13:0:0:3,10:102,290:8.58,0.00:8.58,0.00:0.00,0.00:0.58,0.00:0.58,0.00:0.00,0.00:60,60:37.3,18.1:0,0:0,0:92,30:57,120:50,23:NM_024080.4(TRPM8) c.1244-206T>A,-:0.14,-:NOT_FOUND,- 2 234863895 . G . . NT END=234869419;NT GT ./. 2 234869358 rs11563212 T C 38 nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;PC=0.013;Gene=TRPM8/NM_024080.4/1;CC=c.1363-62T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:25:0:0:13,13:394,439:37.76,0.00:34.58,0.00:3.17,0.00:1.00,0.00:1.00,0.00:0.51,0.00:60,60:48.5,2.9:0,0:0,0:30,59:121,92:18,16:NM_024080.4(TRPM8) c.1363-62T>C,-:0.1,-:NOT_FOUND,- 2 234869711 . G . . NT END=234871925;NT GT ./. 2 234872022 . G . . NT END=234873271;NT GT ./. 2 234873123 rs28953468 G A 45 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=TRPM8/NM_024080.4/1;CC=c.1750-149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:14,13:467,376:45.28,0.00:45.28,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:52.9,29.4:0,0:0,0:71,34:77,102:43,29:NM_024080.4(TRPM8) c.1750-149G>A,-:0.47,-:NOT_FOUND,- 2 234873195 rs370039049 C CA 16 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;PC=0.250;Gene=TRPM8/NM_024080.4/1;CC=c.1750-51_1750-50insA;VC=Intron;RN=26 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,CA,D:32:36:7:7:22,6,4:738,226,214:0.00,15.86,9.67:0.00,15.86,9.67:0.00,0.00,0.00:0.00,0.89,0.00:0.00,0.89,0.00:0.00,0.00,0.00:60,60,60:65.0,64.5,75.0:0,1,3:0,0,0:69,29,61:78,82,90:37,26,21:-,NM_024080.4(TRPM8) c.1750-77_1750-76insA:-,NOT_FOUND:-,NOT_FOUND 2 234873222 rs200301357 G A 26 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=NA;NP=47;PC=0.823;Gene=TRPM8/NM_024080.4/1;CC=c.1750-50G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:50:0:3:16,40:326,1032:25.70,0.00:26.00,0.00:-0.30,0.00:1.00,0.00:1.00,0.00:0.99,0.00:70,60:82.6,17.4:1,0:0,0:84,22:64,129:49,18:NM_024080.4(TRPM8) c.1750-50G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 234873402 . G . . NT END=234875253;NT GT ./. 2 234875126 . C A 73 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;NP=1;Gene=TRPM8/NM_024080.4/1;CC=c.1880-128C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:46:46:0:0:24,22:755,728:73.10,0.00:71.46,0.00:1.64,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:37.7,12.6:0,0:0,0:60,61:89,89:27,45:NM_024080.4(TRPM8) c.1880-128C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 234875400 . G . . NT END=234878338;NT GT ./. 2 234878452 . G . . NT END=234878853;NT GT ./. 2 234879071 . G . . NT END=234888831;NT GT ./. 2 234886842 rs59259744 A T,CGTGT 15 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=15;NP=68;PC=0.094;DM=TRPM8/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:28:T,CGTGT:5:4:4:0:1,4:35,132:3.28,14.72:0.00,7.36:3.28,7.36:0.00,0.96:0.00,1.00:0.00,0.96:60,70:35.0,19.2:1,0:0,0:88,42:63,86:0,19:NM_024080.4(TRPM8) c.2356-1990A>T,NM_024080.4(TRPM8) c.2356-1990delAinsCGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 234888924 . G . . NT END=234890417;NT GT ./. 2 234890560 . G . . NT END=234891696;NT GT ./. 2 234891869 . G . . NT END=234894331;NT GT ./. 2 234894510 . G . . NT END=234904969;NT GT ./. 2 234905078 rs11563208 C T 125 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=0.724;Gene=TRPM8/NM_024080.4/1;CC=c.3048C>T;ProtCh=p.I1016=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:82:52:0:0:1,41,40:10,1313,1301:-0.10,0.00,124.79:0.04,0.00,52.74:-0.14,0.00,72.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:37.0,4.0,37.3:0,0,0:0,0,0:143,93,59:8,56,85:0,30,37:-,NM_024080.4(TRPM8) c.3048C>T (p.(=)):-,0.19:-,0.220975 2 234905161 . G . . NT END=234915496;NT GT ./. 2 234915597 . G . . NT END=234916713;NT GT ./. 2 234916748 . G . . NT END=234923205;NT GT ./. 2 234916771 . AT A 17 idl,rn VT=DEL;SST=Single;DP=45;NP=12;PC=0.001;Gene=TRPM8/NM_024080.4/1;CC=c.3264+39delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:AT,I,A:43:23:3:10:32,3,8:999,100,284:0.00,6.95,16.92:0.00,2.39,4.34:0.00,4.56,12.58:0.00,0.00,0.97:0.00,0.00,0.97:0.00,0.00,1.00:60,60,60:9.2,9.7,48.9:0,0,2:0,0,0:88,91,65:60,59,65:18,12,17:-,NM_024080.4(TRPM8) c.3264+25delT:-,NOT_FOUND:-,NOT_FOUND 2 234923257 . A . . NT END=234959430;NT GT ./. 2 234923428 rs35884761 C CA 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=5;NP=64;Gene=TRPM8/NM_024080.4/1;CC=c.*42+142dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CA:4:0:3:0:1,3:34,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:60,70:0.0,23.0:0,0:0,0:125,101:26,49:0,6:-,NM_024080.4(TRPM8) c.*42+130_*42+131insA:-,NOT_FOUND:-,NOT_FOUND 2 234959516 . G . . NT END=234959614;NT GT ./. 2 234959740 . G . . NT END=234967479;NT GT ./. 2 234967539 rs593668 T A 319 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=NA;Gene=SPP2/NM_006944.2/1;CC=c.270T>A;ProtCh=p.T90=;VC=Silent;DM=SPP2/Spp-24;DM=SPP2/Spp-24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:85:69:0:0:85:2789:319.37:201.09:118.28:1.00:1.00:1.00:60:39.4:0:0:68:72:37:NM_006944.2(SPP2) c.270T>A (p.(=)),NM_006944.2(SPP2) c.270T>A (p.(=)):0.66,0.66:0.686145,0.686145 2 234967603 . G . . NT END=234969012;NT GT ./. 2 234969124 . G . . NT END=234975176;NT GT ./. 2 234969374 rs10195232 T C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=SPP2/NM_006944.2/1;CC=c.444+251T>C;VC=Intron;DM=SPP2/Spp-24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:4:3:0:0:2,2:67,66:6.45,0.00:1.24,0.00:5.21,0.00:0.51,0.00:0.89,0.00:0.89,0.00:60,60:103.5,0.0:0,0:0,0:88,75:53,50:41,25:NM_006944.2(SPP2) c.444+251T>C,-:0.3,-:NOT_FOUND,- 2 234969400 rs10187699 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=16;Gene=SPP2/NM_006944.2/1;CC=c.444+277C>T;VC=Intron;DM=SPP2/Spp-24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:4:0:0:2,2:69,66:0.00,6.35:0.00,3.02:0.00,3.33:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,63.0:0,0:0,0:101,47:24,72:25,14:-,NM_006944.2(SPP2) c.444+277C>T:-,NOT_FOUND:-,NOT_FOUND 2 234975232 . G . . NT END=234975867;NT GT ./. 2 234975451 rs250978 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.019;Gene=SPP2/NM_006944.2/1;CC=c.499+220G>A;VC=Intron;DM=SPP2/Spp-24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:6:0:0:0:3,3:91,98:8.72,0.00:0.00,0.00:8.72,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:33.7,0.0:0,0:0,0:109,142:42,8:22,5:NM_006944.2(SPP2) c.499+220G>A,-:0.28,-:NOT_FOUND,- 2 234975919 . G . . NT END=234978571;NT GT ./. 2 234978658 . C . . NT END=235404449;NT GT ./. 2 235154066 rs56081836 TTGTG T 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=83;PC=0.012;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TTGTG,T:4:4:0:4:1,3:34,114:0.00,8.56:0.00,3.32:0.00,5.23:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,0.0:0,1:0,0:36,34:114,117:0,19:-,chr2 g.235154067_235154070delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 235325034 rs7593890 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:C,T:7:5:0:0:1,6:30,175:0.00,19.08:0.00,9.37:0.00,9.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,37.2:0,0:0,0:141,80:4,70:0,16:-,chr2 g.235325033C>T (intergenic):-,0.59:-,NOT_FOUND 2 235405235 . C . . NT END=235943646;NT GT ./. 2 235487228 rs80293188 T C,TAC 7 end,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:C,T,TAC:4:1:2:0:1,1,2:31,29,65:2.85,0.00,6.55:0.00,0.00,3.48:2.85,0.00,3.08:0.00,0.00,0.51:0.00,0.00,0.67:0.00,0.00,0.89:60,60,60:31.0,0.0,6.0:0,0,0:0,0,0:3,148,68:148,3,80:0,0,46:chr2 g.235487227T>C (intergenic),chr2 g.235487228_235487229insAC (intergenic):NOT_FOUND,0.75:NOT_FOUND,NOT_FOUND 2 235720990 rs72003460 TACACACACACACACACAC T 10 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=164;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TACACACACACACACACAC,T:4:4:0:3:1,3:34,92:0.00,9.65:0.00,8.08:0.00,1.58:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,15.7:0,0:0,0:124,34:24,117:0,10:-,chr2 g.235720991_235721008delACACACACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 235766636 . A G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;PC=0.065 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:3:0:0:2,2:68,69:0.00,6.65:0.00,5.26:0.00,1.39:0.00,0.51:0.00,0.89:0.00,0.89:60,33:0.0,172.5:0,0:0,0:74,11:63,107:42,0:-,chr2 g.235766635A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 235766648 . A T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,T:4:3:0:0:2,2:71,70:0.00,6.75:0.00,5.36:0.00,1.39:0.00,0.51:0.00,0.89:0.00,0.89:60,33:0.0,173.0:0,0:0,0:86,23:51,95:42,0:-,chr2 g.235766647A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 235766649 . G T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:4:3:0:0:2,2:67,67:0.00,6.45:0.00,5.06:0.00,1.39:0.00,0.51:0.00,0.89:0.00,0.89:60,33:0.0,172.5:0,0:0,0:87,24:50,94:42,0:-,chr2 g.235766648G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 235943765 . G . . NT END=235949531;NT GT ./. 2 235950187 rs1469375 T C 417 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;Gene=SH3BP4/NM_014521.2/1;CC=c.774T>C;ProtCh=p.D258=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:118:79:0:0:118:3613:416.96:233.54:183.42:1.00:1.00:1.00:60:40.6:0:0:81:69:38:NM_014521.2(SH3BP4) c.774T>C (p.(=)),NM_014521.2(SH3BP4) c.774T>C (p.(=)):0.68,0.68:0.567584,0.567584 2 235951819 rs3795962 A G 331 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=1.000;Gene=SH3BP4/NM_014521.2/1;CC=c.2406A>G;ProtCh=p.L802=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:90:56:0:0:90:2888:331.50:149.87:181.62:1.00:1.00:1.00:60:42.4:0:0:103:47:29:NM_014521.2(SH3BP4) c.2406A>G (p.(=)),NM_014521.2(SH3BP4) c.2406A>G (p.(=)):0.71,0.71:0.60549,0.60549 2 235951892 . G . . NT END=235961205;NT GT ./. 2 235952127 rs11687785 C T 10 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5;PC=0.874;Gene=SH3BP4/NM_014521.2/1;CC=c.2478+236C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:C,T:4:0:0:0:1,3:26,98:0.00,10.25:0.00,0.00:0.00,10.25:0.00,0.85:0.00,0.00:0.00,0.85:6,13:56.0,63.0:0,0:0,0:74,99:76,52:0,2:-,NM_014521.2(SH3BP4) c.2478+236C>T:-,NOT_FOUND:-,NOT_FOUND 2 235961010 rs6739888 C T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SH3BP4/NM_014521.2/1;CC=c.2479-196C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,T:7:7:0:0:3,4:91,105:0.00,10.29:0.00,10.29:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:49.3,45.5:0,0:0,0:39,63:94,88:15,21:-,NM_014521.2(SH3BP4) c.2479-196C>T:-,0.53:-,NOT_FOUND 2 235961111 rs6754815 A G 24 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=SH3BP4/NM_014521.2/1;CC=c.2479-95A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:25:0:0:16,9:466,272:0.00,24.41:0.00,24.60:0.00,-0.19:0.00,1.00:0.00,1.00:0.00,0.66:60,60:19.6,32.7:0,0:0,0:32,26:117,125:26,21:-,NM_014521.2(SH3BP4) c.2479-95A>G:-,0.27:-,NOT_FOUND 2 235961395 . G . . NT END=235962235;NT GT ./. 2 235961972 rs7606553 A G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SH3BP4/NM_014521.2/1;CC=c.2668-264A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:5:5:0:0:1,4:34,134:0.00,14.22:0.00,14.22:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,51.0:0,0:0,0:45,82:102,69:0,26:-,NM_014521.2(SH3BP4) c.2668-264A>G:-,0.05:-,NOT_FOUND 2 235962210 rs10177808 T C 84 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SH3BP4/NM_014521.2/1;CC=c.2668-26T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:40:0:0:26,22:861,672:84.14,0.00:66.00,0.00:18.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.2,19.2:0,0:0,0:44,53:103,97:20,42:NM_014521.2(SH3BP4) c.2668-26T>C,-:0.1,-:0.113871,- 2 235962461 . A . . NT END=236403330;NT GT ./. 2 235976510 rs61290125 C CGTGTGT 7 sb,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=2;NP=3;NP=87;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,CGTGTGT:5:5:4:0:2,3:70,108:0.00,7.42:0.00,1.77:0.00,5.65:0.00,0.73:0.00,0.96:0.00,0.96:60,70:0.0,42.7:0,1:0,0:96,79:31,72:0,12:-,chr2 g.235976510_235976511insGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 235976565 rs7573787 T G 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:G,T:4:2:0:0:3,1:101,32:10.55,0.00:3.75,0.00:6.80,0.00:0.85,0.00:0.95,0.00:0.85,0.00:60,60:33.7,42.0:0,0:0,0:132,44:18,107:13,0:chr2 g.235976564T>G (intergenic),-:0.62,-:NOT_FOUND,- 2 236050816 rs71400749 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=15;NP=2;NP=28;NP=4;NP=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:128:14.71:10.83:3.88:1.00:1.00:1.00:60:68.2:0:0:81:67:26:chr2 g.236050815A>G (intergenic),chr2 g.236050815A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 236086172 . AACAC A 9 rn VT=DEL;SST=Single;DP=4;NP=6;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AACAC,A:4:4:0:3:1,3:34,81:0.00,8.54:0.00,8.84:0.00,-0.30:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,3.3:0,0:0,0:118,59:33,92:0,27:-,chr2 g.236086173_236086176delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 236126873 rs56144281 T TGTGC 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=18;NP=3;NP=300;NP=4;NP=5;NP=5;PC=0.743;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TGTGC:4:2:4:0:4:123:14.21:5.52:8.69:1.00:1.00:1.00:70:26.0:0:0:89:61:26:chr2 g.236126873_236126874insGTGC (intergenic),chr2 g.236126873_236126874insGTGC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 236347837 . AACAC A 10 rn VT=DEL;SST=Single;DP=5;NP=20;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AACAC,A:4:5:0:4:1,3:34,132:0.00,10.17:0.00,5.08:0.00,5.08:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,8.0:0,1:0,0:82,55:34,61:0,20:-,chr2 g.236347838_236347841delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 236391081 . TTGTGTGTG T 14 idl,nt VT=DEL;SST=Single;DP=6;NP=6;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:6:4:191:13.60:4.50:9.10:0.93:0.99:0.99:60:7.8:2:0:61:89:16:chr2 g.236391082_236391089delTGTGTGTG (intergenic),chr2 g.236391082_236391089delTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 236397989 . TCACA T 13 rn VT=DEL;SST=Single;DP=7;PC=0.002;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:TCACA,T:7:5:0:5:3,4:99,134:0.00,13.23:0.00,10.43:0.00,2.80:0.00,0.90:0.00,0.98:0.00,0.97:60,60:40.3,2.0:0,0:0,0:99,43:46,95:27,13:-,NM_001037131.2(AGAP1) c.-598-u4743_-598-u4740delCACA:-,NOT_FOUND:-,NOT_FOUND 2 236403495 . T . . NT END=236475223;NT GT ./. 2 236430384 rs13032286 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=39;PC=0.006;Gene=AGAP1/NM_001244888.1/0;CC=c.163+26891A>G;VC=Intron;Gene=AGAP1/NM_001037131.2/1;CC=c.163+26891A>G;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.163+26891A>G;VC=Intron;DM=AGAP1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:5:4:0:0:2,3:65,101:0.00,10.07:0.00,6.81:0.00,3.26:0.00,0.78:0.00,0.97:0.00,0.94:60,60:15.5,85.0:0,1:0,0:51,37:49,113:38,34:-,NM_001037131.2(AGAP1) c.163+26891A>G:-,NOT_FOUND:-,NOT_FOUND 2 236475243 . G . . NT END=236579550;NT GT ./. 2 236579702 . G . . NT END=236617822;NT GT ./. 2 236579860 rs115677393 C T 34 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=AGAP1/NM_001244888.1/0;CC=c.164-37963C>T;VC=Intron;Gene=AGAP1/NM_001037131.2/1;CC=c.164-37963C>T;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.164-37963C>T;VC=Intron;DM=AGAP1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:0:0:0:28,12:797,387:0.00,33.84:0.00,0.00:0.00,33.84:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.0,40.2:0,0:0,0:100,89:50,61:32,32:-,NM_001037131.2(AGAP1) c.164-37963C>T:-,0.03:-,NOT_FOUND 2 236617883 . T . . NT END=236626200;NT GT ./. 2 236626290 . T . . NT END=236627024;NT GT ./. 2 236627038 . T . . NT END=236629300;NT GT ./. 2 236629359 . G . . NT END=236649606;NT GT ./. 2 236649694 . T . . NT END=236653341;NT GT ./. 2 236653485 . T . . NT END=236658997;NT GT ./. 2 236659134 . T . . NT END=236706402;NT GT ./. 2 236671639 rs938492 G C 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=AGAP1/NM_001244888.1/0;CC=c.673+12507G>C;VC=Intron;Gene=AGAP1/NM_001037131.2/1;CC=c.673+12507G>C;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.673+12507G>C;VC=Intron;DM=AGAP1/Ras;DM=AGAP1/ArfGap;DM=AGAP1/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:132:15.11:11.03:4.08:1.00:1.00:1.00:60:70.8:0:0:118:32:4:NM_001037131.2(AGAP1) c.673+12507G>C,NM_001037131.2(AGAP1) c.673+12507G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 2 236706532 . T . . NT END=236708010;NT GT ./. 2 236706612 rs555267293 A AT 29 rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=940;Gene=AGAP1/NM_001244888.1/0;CC=c.801+92dupT;VC=Intron;Gene=AGAP1/NM_001037131.2/1;CC=c.801+92dupT;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.801+92dupT;VC=Intron;DM=AGAP1/ArfGap;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:42:13:12:1:30,11,1:868,365,16:0.00,28.82,0.26:0.00,4.96,-0.06:0.00,23.86,0.32:0.00,1.00,0.00:0.00,0.96,0.00:0.00,1.00,0.00:60,70,60:18.9,8.5,66.0:0,1,0:0,0,0:111,115,28:39,34,123:25,8,0:-,NM_001037131.2(AGAP1) c.801+82_801+83insT:-,NOT_FOUND:-,NOT_FOUND 2 236707896 rs2292707 C T 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=AGAP1/NM_001244888.1/0;CC=c.802-115C>T;VC=Intron;Gene=AGAP1/NM_001037131.2/1;CC=c.802-115C>T;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.802-115C>T;VC=Intron;DM=AGAP1/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:16:15:0:0:1,7,8:11,232,274:0.30,0.00,26.70:0.31,0.00,23.18:-0.01,0.00,3.53:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.79:60,60,60:69.0,5.4,44.1:0,0,0:0,0,0:33,43,40:117,108,110:0,11,32:-,NM_001037131.2(AGAP1) c.802-115C>T:-,0.3:-,NOT_FOUND 2 236708166 rs2292708 C T 162 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=0.026;Gene=AGAP1/NM_001244888.1/0;CC=c.957C>T;ProtCh=p.T319=;VC=Silent;Gene=AGAP1/NM_001037131.2/1;CC=c.957C>T;ProtCh=p.T319=;VC=Silent;Gene=AGAP1/NM_014914.4/0;CC=c.957C>T;ProtCh=p.T319=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:77:45:0:0:1,29,47:11,910,1613:-0.01,0.00,161.82:-0.05,0.00,56.41:0.05,0.00,105.41:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:116.0,3.5,36.1:0,0,0:0,0,0:52,91,76:99,47,58:0,29,29:-,NM_001037131.2(AGAP1) c.957C>T (p.(=)):-,0.23:-,0.215055 2 236708168 . T . . NT END=236715882;NT GT ./. 2 236715977 . T . . NT END=236761329;NT GT ./. 2 236761396 rs13006916 C T 233 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=NA;PC=0.461;Gene=AGAP1/NM_001244888.1/0;CC=c.1117C>T;ProtCh=p.R373C;VC=Missense;Gene=AGAP1/NM_001037131.2/1;CC=c.1051-30593C>T;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1051-30593C>T;VC=Intron;DM=AGAP1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:145:114:0:0:70,1,74:2102,9,2410:0.00,-0.16,232.94:0.00,-0.13,140.55:0.00,-0.03,92.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.7,45.0,44.3:0,0,0:0,0,0:67,0,70:82,151,73:34,0,29:-,NM_001037131.2(AGAP1) c.1051-30593C>T:-,0.52:-,NOT_FOUND 2 236761847 . G . . NT END=236791988;NT GT ./. 2 236792095 . T . . NT END=236817381;NT GT ./. 2 236817336 rs8178997 CT C 18 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=540;PC=0.094;Gene=AGAP1/NM_001037131.2/1;CC=c.1156-32delT;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1156-32delT;VC=Intron;DM=AGAP1/Ras;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:CT,T,I,C:35:34:1:11:26,1,1,7:806,8,31,351:0.00,-0.15,1.70,17.99:0.00,-0.08,1.77,15.41:0.00,-0.07,-0.07,2.58:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.89:60,60,60,60:27.8,74.0,10.0,30.9:0,0,0,4:0,0,0,0:46,107,111,64:101,15,40,85:37,0,0,39:-,NM_001037131.2(AGAP1) c.1156-45delT:-,NOT_FOUND:-,NOT_FOUND 2 236817552 . T . . NT END=236839408;NT GT ./. 2 236817629 rs4663215 C T 126 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=AGAP1/NM_001037131.2/1;CC=c.1324+79C>T;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1324+79C>T;VC=Intron;DM=AGAP1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:T:34:9:0:0:34:1099:126.08:22.66:103.42:1.00:1.00:1.00:60:45.8:0:0:107:42:25:NM_001037131.2(AGAP1) c.1324+79C>T,NM_001037131.2(AGAP1) c.1324+79C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 2 236839568 . G . . NT END=236877105;NT GT ./. 2 236839731 rs35953119 G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=AGAP1/NM_001037131.2/1;CC=c.1483+164G>A;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1324+22181G>A;VC=Intron;DM=AGAP1/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:A,G:18:0:0:0:13,5:383,159:39.81,0.00:0.00,0.00:39.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:54.5,2.2:0,0:0,0:97,131:53,20:40,6:NM_001037131.2(AGAP1) c.1483+164G>A,-:0.33,-:NOT_FOUND,- 2 236839797 rs34034658 G C 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=AGAP1/NM_001037131.2/1;CC=c.1483+230G>C;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1324+22247G>C;VC=Intron;DM=AGAP1/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:C,G:7:0:0:0:6,1:206,31:22.22,0.00:0.00,0.00:22.22,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:77.0,0.0:0,0:0,0:124,0:24,151:3,0:NM_001037131.2(AGAP1) c.1483+230G>C,-:0.33,-:NOT_FOUND,- 2 236877066 rs35278826 AT A 31 idl,rn VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=38;PC=0.219;Gene=AGAP1/NM_001037131.2/1;CC=c.1484-23delT;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1325-23delT;VC=Intron;DM=AGAP1/ArfGap;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,C,T,I,A:70:65:2:18:54,1,1,2,12:1646,11,12,67,564:0.00,-0.15,-0.11,3.87,31.09:0.00,-0.05,-0.21,1.82,14.86:0.00,-0.09,0.10,2.06,16.23:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:60,60,60,60,60:41.0,44.0,85.0,53.0,36.1:0,0,0,0,6:0,0,0,0,0:61,92,30,87,32:74,27,121,62,92:39,0,0,21,19:-,NM_001037131.2(AGAP1) c.1484-39delT:-,NOT_FOUND:-,NOT_FOUND 2 236877269 . T . . NT END=236945204;NT GT ./. 2 236945361 . T . . NT END=236949394;NT GT ./. 2 236949487 . T . . NT END=236957702;NT GT ./. 2 236957927 . T . . NT END=237028835;NT GT ./. 2 236958156 rs67962936 C T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=AGAP1/NM_001037131.2/1;CC=c.2114+231C>T;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1955+231C>T;VC=Intron;DM=AGAP1/ArfGap GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,T:7:0:0:0:3,4:93,123:0.00,12.13:0.00,0.00:0.00,12.13:0.00,0.90:0.00,0.00:0.00,0.90:60,60:14.3,43.0:0,0:0,0:146,143:5,7:3,4:-,NM_001037131.2(AGAP1) c.2114+231C>T:-,0.02:-,NOT_FOUND 2 236986681 rs9287595 T TTG 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=3;NP=89;PC=0.003;Gene=AGAP1/NM_001037131.2/1;CC=c.2114+28793_2114+28794insGT;VC=Intron;Gene=AGAP1/NM_014914.4/0;CC=c.1955+28793_1955+28794insGT;VC=Intron;DM=AGAP1/ArfGap;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:T,TTG:8:7:3:0:5,3:109,99:0.00,9.05:0.00,5.96:0.00,3.10:0.00,0.67:0.00,0.95:0.00,0.85:60,70:45.6,7.7:0,0:0,0:100,20:38,105:20,17:-,NM_001037131.2(AGAP1) c.2114+28756_2114+28757insTG:-,NOT_FOUND:-,NOT_FOUND 2 237029093 . T . . NT END=237032562;NT GT ./. 2 237032768 . G . . NT END=237074556;NT GT ./. 2 237075081 . C . . NT END=237075780;NT GT ./. 2 237075818 . C . . NT END=237076091;NT GT ./. 2 237076615 . A . . NT END=237103514;NT GT ./. 2 237103701 . C . . NT END=237104914;NT GT ./. 2 237105029 . C . . NT END=237123004;NT GT ./. 2 237123384 rs56247246 C A 280 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=219;DB;DBA=NA;PAF=NA;Gene=ASB18/NM_212556.2/1;CC=c.722G>T;ProtCh=p.R241L;VC=Missense;DM=ASB18/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:219:140:0:0:94,125:3005,4092:280.26,0.00:129.92,0.00:150.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,6.4:0,0:0,0:79,78:64,71:35,34:NM_212556.2(ASB18) c.722G>T (p.Arg241Leu),-:0.05,-:NOT_FOUND,- 2 237123510 . C . . NT END=237146331;NT GT ./. 2 237123663 rs574936196 GA G 20 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=9;Gene=ASB18/NM_212556.2/1;CC=c.597-155delT;VC=Intron;DM=ASB18/Ank_2;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GA,I,G:21:0:2:8:1,11,1,8:22,270,52,220:1.13,0.00,1.62,20.16:0.00,0.00,0.00,0.00:1.13,0.00,1.62,20.16:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.99:60,60,60,70:45.0,43.5,279.0,37.9:0,1,1,0:0,0,0,0:11,92,115,90:140,59,18,53:0,26,7,28:-,NM_212556.2(ASB18) c.597-155delT:-,NOT_FOUND:-,NOT_FOUND 2 237146600 . C . . NT END=237149922;NT GT ./. 2 237146643 rs72060634 TGTG T 109 nt VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=26;PC=0.019;Gene=ASB18/NM_212556.2/1;CC=c.329-47_329-45delCAC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGTG,T:77:29:0:37:40,37:1245,1146:0.00,109.13:0.00,22.50:0.00,86.63:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.0,14.7:0,0:0,0:119,92:28,49:22,31:-,NM_212556.2(ASB18) c.329-47_329-45delCAC:-,0.4:-,0.347485 2 237149941 rs6756597 C T 92 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=NA;PC=0.979;Gene=ASB18/NM_212556.2/1;CC=c.310G>A;ProtCh=p.A104T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:65:0:0:48,33:1575,1002:0.00,92.17:0.00,54.97:0.00,37.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,35.8:0,0:0,0:52,73:90,77:24,35:-,NM_212556.2(ASB18) c.310G>A (p.Ala104Thr):-,0.47:-,0.422113 2 237150046 . C . . NT END=237172783;NT GT ./. 2 237150166 rs2015983 A C 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=ASB18/NM_212556.2/1;CC=c.206-121T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:55:11:0:0:30,25:970,664:0.00,61.70:0.00,5.76:0.00,55.93:0.00,1.00:0.00,0.93:0.00,1.00:60,60:3.5,35.2:0,0:0,0:106,113:44,38:28,28:-,NM_212556.2(ASB18) c.206-121T>G:-,0.77:-,NOT_FOUND 2 237172989 . T . . NT END=237233330;NT GT ./. 2 237233427 . C . . NT END=237240001;NT GT ./. 2 237240241 . C . . NT END=237246847;NT GT ./. 2 237247026 . C . . NT END=237252344;NT GT ./. 2 237252407 . C . . NT END=237253199;NT GT ./. 2 237253287 . C . . NT END=237272422;NT GT ./. 2 237272623 . C . . NT END=237276836;NT GT ./. 2 237272860 rs79275142 C CCTT 13 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=160;Gene=IQCA1/NM_001270585.1/1;CC=c.1694-241_1694-239dupAAG;VC=Intron;Gene=IQCA1/NM_001270584.1/0;CC=c.1547-241_1547-239dupAAG;VC=Intron;Gene=IQCA1/NM_024726.4/0;CC=c.1670-241_1670-239dupAAG;VC=Intron;Gene=IQCA1/NR_073043.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,CCTT:6:0:4:0:2,4:37,125:0.00,12.78:0.00,0.00:0.00,12.78:0.00,0.93:0.00,0.00:0.00,0.93:60,60:17.0,22.5:1,0:0,0:86,79:64,70:60,20:-,NM_001270585.1(IQCA1) c.1694-239_1694-238insAAG:-,NOT_FOUND:-,NOT_FOUND 2 237276945 . C . . NT END=237285745;NT GT ./. 2 237285829 . C . . NT END=237289211;NT GT ./. 2 237289280 . c . . NT END=237300618;NT GT ./. 2 237300715 . C . . NT END=237300886;NT GT ./. 2 237300994 . C . . NT END=237308055;NT GT ./. 2 237308132 . C . . NT END=237327791;NT GT ./. 2 237327915 . C . . NT END=237349682;NT GT ./. 2 237349768 . C . . NT END=237374147;NT GT ./. 2 237374354 . C . . NT END=237395471;NT GT ./. 2 237395544 . C . . NT END=237396642;NT GT ./. 2 237396835 . C . . NT END=237402410;NT GT ./. 2 237402531 . C . . NT END=237405805;NT GT ./. 2 237406131 . C . . NT END=237412273;NT GT ./. 2 237412341 . T . . NT END=237415899;NT GT ./. 2 237415911 . T . . NT END=237489108;NT GT ./. 2 237490198 . T . . NT END=237994607;NT GT ./. 2 237994686 . G . . NT END=237995374;NT GT ./. 2 237995440 . G . . NT END=237995769;NT GT ./. 2 237995841 . G . . NT END=237997247;NT GT ./. 2 237997297 . G . . NT END=237998504;NT GT ./. 2 237998638 . G . . NT END=238002305;NT GT ./. 2 238002841 . G . . NT END=238004464;NT GT ./. 2 238004528 . G . . NT END=238005464;NT GT ./. 2 238005370 rs11333953 GT G 28 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1056;PC=0.001;Gene=COPS8/NM_006710.4/0;CC=c.503-93delT;VC=Intron;Gene=COPS8/NM_198189.2/1;CC=c.356-93delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:22:17:0:10:12,10:352,294:0.00,27.59:0.00,18.67:0.00,8.91:0.00,1.00:0.00,1.00:0.00,0.98:60,70:5.2,4.6:0,0:0,0:59,24:92,125:17,12:-,NM_006710.4(COPS8) c.503-94delT:-,0.28:-,NOT_FOUND 2 238005513 . G . . NT END=238006305;NT GT ./. 2 238005572 rs28631187 G A 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=COPS8/NM_006710.4/0;CC=c.550+60G>A;VC=Intron;Gene=COPS8/NM_198189.2/1;CC=c.403+60G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:3:0:0:10,13:323,439:30.23,0.00:2.97,0.00:27.26,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:35.3,0.7:0,0:0,0:90,116:60,34:46,19:NM_006710.4(COPS8) c.550+60G>A,-:0.08,-:0.099693,- 2 238006229 rs72975809 G T 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.001;Gene=COPS8/NM_006710.4/0;CC=c.551-77G>T;VC=Intron;Gene=COPS8/NM_198189.2/1;CC=c.404-77G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:19:0:0:9,12:303,379:0.00,37.39:0.00,27.21:0.00,10.18:0.00,1.00:0.00,1.00:0.00,0.99:60,60:21.4,37.1:0,0:0,0:48,26:103,124:35,14:-,NM_006710.4(COPS8) c.551-77G>T:-,0.08:-,NOT_FOUND 2 238006386 . T . . NT END=238233416;NT GT ./. 2 238233458 . C . . NT END=238234202;NT GT ./. 2 238233665 rs72984147 T A 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.9494-208A>T;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.7673-208A>T;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.8876-208A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:A,T:9:0:0:0:7,2:201,68:21.32,0.00:0.00,0.00:21.32,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:42.6,10.5:0,0:0,0:82,13:69,138:38,1:NM_004369.3(COL6A3) c.9494-208A>T,-:0.06,-:NOT_FOUND,- 2 238234368 . C . . NT END=238242092;NT GT ./. 2 238242192 . C . . NT END=238243268;NT GT ./. 2 238243145 rs111578971 C CTGT 32 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=129;Gene=COL6A3/NM_004369.3/1;CC=c.9229+123_9229+124insACA;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.7408+123_7408+124insACA;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.8611+123_8611+124insACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTGT:30:30:12:0:17,1,12:503,31,353:0.00,1.85,32.50:0.00,1.85,32.50:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:25.8,66.0,16.6:0,0,0:0,0,0:49,7,55:101,144,95:36,0,30:-,NM_004369.3(COL6A3) c.9229+123_9229+124insACA:-,0.05:-,NOT_FOUND 2 238243285 rs2270671 G A 154 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=101;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.9213C>T;ProtCh=p.H3071=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.7392C>T;ProtCh=p.H2464=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.8595C>T;ProtCh=p.H2865=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:101:81:0:0:50,51:1602,1591:153.60,0.00:94.92,0.00:58.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.4,9.4:0,0:0,0:57,59:89,86:29,27:NM_004369.3(COL6A3) c.9213C>T (p.(=)),-:0.1,-:0.099954,- 2 238243464 rs2270669 C G 388 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=102;DB;DBA=in-clinvar;PAF=NA;PC=1.000;Gene=COL6A3/NM_004369.3/1;CC=c.9034G>C;ProtCh=p.A3012P;VC=Missense;Gene=COL6A3/NM_057166.4/0;CC=c.7213G>C;ProtCh=p.A2405P;VC=Missense;Gene=COL6A3/NM_057167.3/0;CC=c.8416G>C;ProtCh=p.A2806P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:102:62:0:0:102:3395:388.04:160.58:227.46:1.00:1.00:1.00:60:40.7:0:0:48:102:29:NM_004369.3(COL6A3) c.9034G>C (p.Ala3012Pro),NM_004369.3(COL6A3) c.9034G>C (p.Ala3012Pro):0.8,0.8:0.835076,0.835076 2 238243533 . C . . NT END=238244777;NT GT ./. 2 238243656 rs11681749 C T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.002;Gene=COL6A3/NM_004369.3/1;CC=c.8966-124G>A;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.7145-124G>A;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.8348-124G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:C,T:20:1:0:0:14,6:375,201:0.00,17.69:0.00,-0.08:0.00,17.77:0.00,0.94:0.00,0.53:0.00,0.94:60,60:2.6,49.0:0,0:0,0:101,116:44,34:34,14:-,NM_004369.3(COL6A3) c.8966-124G>A:-,0.05:-,NOT_FOUND 2 238244559 rs10929226 G C 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.8965+219C>G;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.7144+219C>G;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.8347+219C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:C,G:9:9:0:0:8,1:253,35:27.75,0.00:27.75,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:101.2,81.0:0,0:0,0:71,35:80,115:18,0:NM_004369.3(COL6A3) c.8965+219C>G,-:0.13,-:NOT_FOUND,- 2 238244575 rs4233631 T C 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.8965+203A>G;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.7144+203A>G;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.8347+203A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:362:41.86:41.86:0.00:1.00:1.00:0.00:60:81.9:0:0:71:79:33:NM_004369.3(COL6A3) c.8965+203A>G,NM_004369.3(COL6A3) c.8965+203A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 2 238244781 rs11690358 T C 221 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=134;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.8962A>G;ProtCh=p.M2988V;VC=Missense;Gene=COL6A3/NM_057166.4/0;CC=c.7141A>G;ProtCh=p.M2381V;VC=Missense;Gene=COL6A3/NM_057167.3/0;CC=c.8344A>G;ProtCh=p.M2782V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:134:112:0:0:71,63:2273,2052:220.94,0.00:157.42,0.00:63.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,8.7:0,0:0,0:53,51:91,95:30,31:NM_004369.3(COL6A3) c.8962A>G (p.Met2988Val),-:0.05,-:0.068778,- 2 238244863 rs35879189 TGCA T 219 PASS VT=DEL;SST=Single;DP=173;DB;DBA=in-clinvar;PAF=NA;NP=545;Gene=COL6A3/NM_004369.3/1;CC=c.8877_8879delTGC;ProtCh=p.A2960del;VC=InFrameDel;Gene=COL6A3/NM_057166.4/0;CC=c.7056_7058delTGC;ProtCh=p.A2353del;VC=InFrameDel;Gene=COL6A3/NM_057167.3/0;CC=c.8259_8261delTGC;ProtCh=p.A2754del;VC=InFrameDel;DM=COL6A3/Kunitz_BPTI;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGCA,T:173:130:0:73:101,72:3222,2357:0.00,219.06:0.00,138.16:0.00,80.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.8,49.4:0,0:0,0:77,60:67,81:42,32:-,NM_004369.3(COL6A3) c.8868TGC[3] (p.Ala2956[4]):-,0.06:-,0.085895 2 238244923 rs11683438 C T 256 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=170;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.8820G>A;ProtCh=p.T2940=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.6999G>A;ProtCh=p.T2333=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.8202G>A;ProtCh=p.T2734=;VC=Silent;DM=COL6A3/Kunitz_BPTI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:170:127:0:0:89,81:2748,2680:0.00,255.56:0.00,132.13:0.00,123.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.0,65.0:0,0:0,0:80,82:69,68:43,32:-,NM_004369.3(COL6A3) c.8820G>A (p.(=)):-,0.05:-,0.071 2 238244963 rs6728818 A G 608 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=167;DB;DBA=in-clinvar;PAF=NA;PC=0.038;Gene=COL6A3/NM_004369.3/1;CC=c.8780T>C;ProtCh=p.M2927T;VC=Missense;Gene=COL6A3/NM_057166.4/0;CC=c.6959T>C;ProtCh=p.M2320T;VC=Missense;Gene=COL6A3/NM_057167.3/0;CC=c.8162T>C;ProtCh=p.M2721T;VC=Missense;DM=COL6A3/Kunitz_BPTI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:167:110:0:0:1,166:35,5315:0.00,607.82:0.00,292.96:0.00,314.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,49.2:0,0:0,0:85,69:66,80:0,38:NM_004369.3(COL6A3) c.8780T>C (p.Met2927Thr),NM_004369.3(COL6A3) c.8780T>C (p.Met2927Thr):0.65,0.65:0.696555,0.696555 2 238245176 . C . . NT END=238247657;NT GT ./. 2 238247761 . C . . NT END=238249094;NT GT ./. 2 238249108 rs61729844 T C 130 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=89;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.8451A>G;ProtCh=p.P2817=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.6630A>G;ProtCh=p.P2210=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.7833A>G;ProtCh=p.P2611=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:89:73:0:0:43,46:1367,1531:130.33,0.00:91.72,0.00:38.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.3,5.8:0,0:0,0:51,54:97,90:24,31:NM_004369.3(COL6A3) c.8451A>G (p.(=)),-:0.05,-:0.071813,- 2 238249717 rs34558385 G A 172 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=in-clinvar;PAF=NA;PC=0.003;Gene=COL6A3/NM_004369.3/1;CC=c.7842C>T;ProtCh=p.S2614=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.6021C>T;ProtCh=p.S2007=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.7224C>T;ProtCh=p.S2408=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:113:57:0:0:59,54:1784,1732:172.47,0.00:70.66,0.00:101.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,5.5:0,0:0,0:88,62:61,89:31,34:NM_004369.3(COL6A3) c.7842C>T (p.(=)),-:0.05,-:0.071967,- 2 238249794 . C . . NT END=238250707;NT GT ./. 2 238250805 . C . . NT END=238252992;NT GT ./. 2 238251035 rs10202434 T G 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.7669-231A>C;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.5848-231A>C;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.7051-231A>C;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:G,T:8:0:0:0:6,2:196,62:20.51,0.00:0.00,0.00:20.51,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:53.8,6.0:0,0:0,0:108,112:42,37:19,19:NM_004369.3(COL6A3) c.7669-231A>C,-:0.13,-:NOT_FOUND,- 2 238253149 rs2646258 G A 233 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=141;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.7512C>T;ProtCh=p.N2504=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.5691C>T;ProtCh=p.N1897=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.6894C>T;ProtCh=p.N2298=;VC=Silent;DM=COL6A3/VWA;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:141:77:0:0:74,67:2401,2129:233.02,0.00:106.68,0.00:126.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,8.2:0,0:0,0:85,85:55,61:34,34:NM_004369.3(COL6A3) c.7512C>T (p.(=)),-:0.1,-:0.100415,- 2 238253487 . C . . NT END=238253583;NT GT ./. 2 238253596 . C . . NT END=238253700;NT GT ./. 2 238253738 . C . . NT END=238253823;NT GT ./. 2 238253857 . C . . NT END=238255145;NT GT ./. 2 238253930 rs2256485 A G 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.011;Gene=COL6A3/NM_004369.3/1;CC=c.7093-74T>C;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.5272-74T>C;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6475-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:17:0:0:21,17:662,564:0.00,53.18:0.00,9.97:0.00,43.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,36.7:0,0:0,0:114,116:37,34:15,29:-,NM_004369.3(COL6A3) c.7093-74T>C:-,0.1:-,0.097021 2 238255120 rs2270656 C T 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.7092+26G>A;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.5271+26G>A;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6474+26G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:26:0:0:18,12:569,424:0.00,39.36:0.00,30.03:0.00,9.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,35.3:0,0:0,0:59,56:91,87:49,22:-,NM_004369.3(COL6A3) c.7092+26G>A:-,0.18:-,0.189451 2 238255209 . C . . NT END=238256449;NT GT ./. 2 238256513 . C . . NT END=238256991;NT GT ./. 2 238257013 rs2646265 G A 22 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=in-clinvar;PAF=NA;PC=1.000;Gene=COL6A3/NM_004369.3/1;CC=c.6945C>T;ProtCh=p.F2315=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.5124C>T;ProtCh=p.F1708=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.6327C>T;ProtCh=p.F2109=;VC=Silent;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:19:14:0:0:7,1,11:236,11,354:21.71,0.19,0.00:10.86,-0.15,0.00:10.85,0.34,0.00:0.98,0.00,0.00:0.99,0.00,0.00:0.99,0.00,0.00:60,60,60:45.3,130.0,3.3:0,0,0:0,0,0:77,28,65:73,122,85:30,0,29:NM_004369.3(COL6A3) c.6945C>T (p.(=)),-:0.1,-:0.097724,- 2 238257028 . C . . NT END=238257255;NT GT ./. 2 238257127 rs3790990 C A 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6931-100G>T;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.5110-100G>T;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6313-100G>T;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:16:0:0:19,10:625,267:63.54,0.00:37.25,0.00:26.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.8,28.2:0,0:0,0:93,78:58,72:35,51:NM_004369.3(COL6A3) c.6931-100G>T,-:0.19,-:NOT_FOUND,- 2 238257213 rs2646264 C G 83 nt VT=SNV;PN=T;NN=C;SST=Single;DP=46;DB;DBA=in-clinvar;PAF=NA;PC=0.001;Gene=COL6A3/NM_004369.3/1;CC=c.6930+43G>C;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.5109+43G>C;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6312+43G>C;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:46:32:0:0:21,25:683,851:0.00,83.27:0.00,46.69:0.00,36.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,53.5:0,0:0,0:54,62:85,89:29,31:-,NM_004369.3(COL6A3) c.6930+43G>C:-,0.1:-,0.10203 2 238257307 . C . . NT END=238258789;NT GT ./. 2 238257353 rs2646263 A G 86 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6880-47T>C;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.5059-47T>C;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6262-47T>C;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:24:0:0:17,25:545,866:0.00,86.22:0.00,23.66:0.00,62.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,44.6:0,0:0,0:85,84:66,67:35,27:-,NM_004369.3(COL6A3) c.6880-47T>C:-,0.16:-,0.177995 2 238258853 . C . . NT END=238259772;NT GT ./. 2 238259836 . C . . NT END=238261164;NT GT ./. 2 238261112 rs4663726 G A 44 nt VT=SNV;PN=G;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6753+53C>T;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4932+53C>T;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6135+53C>T;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:28:0:0:14,16:459,518:43.58,0.00:39.59,0.00:3.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.6,20.0:0,0:0,0:61,31:89,118:15,8:NM_004369.3(COL6A3) c.6753+53C>T,-:0.5,-:0.471529,- 2 238261113 rs4663727 C A 45 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6753+52G>T;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4932+52G>T;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6135+52G>T;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:31:0:0:15,18:473,567:44.58,0.00:40.60,0.00:3.99,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:65.9,20.1:0,0:0,0:60,30:91,117:15,12:NM_004369.3(COL6A3) c.6753+52G>T,-:0.5,-:0.531359,- 2 238261228 . C . . NT END=238261983;NT GT ./. 2 238261744 rs7605340 T C 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6690+240A>G;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4869+240A>G;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6072+240A>G;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:C,T:6:6:0:0:4,2:114,49:11.62,0.00:11.62,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:100.2,58.0:0,0:0,0:38,57:112,94:13,36:NM_004369.3(COL6A3) c.6690+240A>G,-:0.6,-:NOT_FOUND,- 2 238261746 rs7605341 T G 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6690+238A>C;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4869+238A>C;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6072+238A>C;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:G,T:6:6:0:0:4,2:119,65:12.15,0.00:12.15,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:100.2,58.0:0,0:0,0:40,59:110,92:13,36:NM_004369.3(COL6A3) c.6690+238A>C,-:0.6,-:NOT_FOUND,- 2 238261850 rs2646257 T C 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6690+134A>G;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4869+134A>G;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6072+134A>G;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:19:0:0:9,11:308,328:29.13,0.00:29.39,0.00:-0.26,0.00:1.00,0.00:1.00,0.00:0.63,0.00:60,60:36.8,33.9:0,0:0,0:61,67:90,83:21,41:NM_004369.3(COL6A3) c.6690+134A>G,-:0.17,-:NOT_FOUND,- 2 238262047 . C . . NT END=238263541;NT GT ./. 2 238262254 rs2645764 C T 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6628-208G>A;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4807-208G>A;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.6010-208G>A;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:9:1:0:0:5,4:136,120:0.00,11.23:0.00,-0.13:0.00,11.36:0.00,0.85:0.00,0.63:0.00,0.85:60,60:38.6,83.5:0,0:0,0:129,105:19,46:17,22:-,NM_004369.3(COL6A3) c.6628-208G>A:-,0.11:-,NOT_FOUND 2 238263578 . C . . NT END=238265980;NT GT ./. 2 238266035 . C . . NT END=238266459;NT GT ./. 2 238266146 rs2645777 C T 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6538-112G>A;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4717-112G>A;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.5920-112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:3:0:0:10,8:278,243:0.00,22.78:0.00,4.68:0.00,18.10:0.00,0.99:0.00,0.84:0.00,1.00:60,60:10.7,52.0:0,0:0,0:59,111:91,39:30,33:-,NM_004369.3(COL6A3) c.6538-112G>A:-,0.12:-,NOT_FOUND 2 238266526 . C . . NT END=238267163;NT GT ./. 2 238267058 rs4663731 G A 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6471+106C>T;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4650+106C>T;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.5853+106C>T;VC=Intron;DM=COL6A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:137:A,G:15:15:0:0:10,5:337,145:34.33,0.00:34.56,0.00:-0.24,0.00:1.00,0.00:1.00,0.00:0.78,0.00:60,60:37.5,0.0:0,0:0,0:55,42:95,109:29,42:NM_004369.3(COL6A3) c.6471+106C>T,-:0.55,-:NOT_FOUND,- 2 238267227 . C . . NT END=238267677;NT GT ./. 2 238267717 rs2646254 C T 109 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=81;DB;DBA=in-clinvar;PAF=NA;PC=0.952;Gene=COL6A3/NM_004369.3/1;CC=c.6369G>A;ProtCh=p.L2123=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.4548G>A;ProtCh=p.L1516=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.5751G>A;ProtCh=p.L1917=;VC=Silent;DM=COL6A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:64:0:0:43,38:1470,1148:0.00,108.56:0.00,68.01:0.00,40.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,37.2:0,0:0,0:69,76:64,56:30,38:-,NM_004369.3(COL6A3) c.6369G>A (p.(=)):-,0.3:-,0.249193 2 238267732 . C . . NT END=238267848;NT GT ./. 2 238267894 . C . . NT END=238268004;NT GT ./. 2 238268032 . C . . NT END=238268730;NT GT ./. 2 238268803 . C . . NT END=238269763;NT GT ./. 2 238269818 . C . . NT END=238270381;NT GT ./. 2 238269871 rs2645769 C G 83 nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.6157-54G>C;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4336-54G>C;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.5539-54G>C;VC=Intron;DM=COL6A3/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:53:28:0:0:27,25,1:864,866,7:0.00,82.92,-0.14:0.00,30.06,-0.08:0.00,52.86,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:3.3,36.4,89.0:0,0,0:0,0,0:93,98,48:58,51,99:20,19,0:-,NM_004369.3(COL6A3) c.6157-54G>C:-,0.2:-,0.220324 2 238270475 . C . . NT END=238271895;NT GT ./. 2 238271786 rs552120635 GC G 75 rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1876;Gene=COL6A3/NM_004369.3/1;CC=c.6063+109delG;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4242+109delG;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.5445+109delG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:GC,G:26:26:0:24:3,23:94,710:0.00,74.67:0.00,72.08:0.00,2.59:0.00,1.00:0.00,1.00:0.00,0.98:60,60:11.7,24.2:0,1:0,0:142,56:9,93:4,23:-,NM_004369.3(COL6A3) c.6063+109delG:-,NOT_FOUND:-,NOT_FOUND 2 238271882 rs139345556 T TA 114 rn VT=INS;SST=Single;DP=78;DB;DBA=in-clinvar;PAF=NA;DB;DBA=NA;PAF=NA;NP=921;Gene=COL6A3/NM_004369.3/1;CC=c.6063+13dupT;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.4242+13dupT;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.5445+13dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:77:69:38:0:1,39,37:29,1139,1229:1.28,0.00,114.44:1.33,0.00,93.68:-0.05,0.00,20.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:39.0,20.2,3.9:0,0,1:0,0,0:0,62,42:151,83,108:0,32,21:-,NM_004369.3(COL6A3) c.6063+13_6063+14insT:-,NOT_FOUND:-,NOT_FOUND 2 238272042 . C . . NT END=238272992;NT GT ./. 2 238273072 . C . . NT END=238274340;NT GT ./. 2 238274679 . C . . NT END=238275329;NT GT ./. 2 238274828 rs2645770 C A 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.5501-150G>T;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.3680-150G>T;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.4883-150G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,C:11:0:0:0:8,3:232,92:24.19,0.00:0.00,0.00:24.19,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:47.4,9.0:0,0:0,0:109,103:41,48:11,11:NM_004369.3(COL6A3) c.5501-150G>T,-:0.21,-:NOT_FOUND,- 2 238275930 . C . . NT END=238277205;NT GT ./. 2 238277573 rs2645774 C A 166 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=149;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.4533G>T;ProtCh=p.G1511=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.2712G>T;ProtCh=p.G904=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.3915G>T;ProtCh=p.G1305=;VC=Silent;DM=COL6A3/VWA;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:149:88:0:0:63,85,1:1802,2723,10:166.33,0.00,-0.19:70.72,0.00,-0.12:95.62,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.2,8.9,60.0:0,1,0:0,0,0:83,81,94:64,64,57:29,38,0:NM_004369.3(COL6A3) c.4533G>T (p.(=)),-:0.25,-:0.234353,- 2 238277795 rs2646260 A G 151 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=98;DB;DBA=in-clinvar;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.4311T>C;ProtCh=p.I1437=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.2490T>C;ProtCh=p.I830=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.3693T>C;ProtCh=p.I1231=;VC=Silent;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:57:0:0:49,49:1585,1576:0.00,151.47:0.00,74.78:0.00,76.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,45.3:0,0:0,0:87,69:64,79:32,31:-,NM_004369.3(COL6A3) c.4311T>C (p.(=)):-,0.35:-,0.347071 2 238277821 . C . . NT END=238280259;NT GT ./. 2 238280981 . C . . NT END=238283054;NT GT ./. 2 238283605 rs12622093 G A 179 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=111;DB;DBA=in-clinvar;PAF=NA;PC=0.042;Gene=COL6A3/NM_004369.3/1;CC=c.3129C>T;ProtCh=p.G1043=;VC=Silent;Gene=COL6A3/NM_057166.4/0;CC=c.1308C>T;ProtCh=p.G436=;VC=Silent;Gene=COL6A3/NM_057167.3/0;CC=c.2511C>T;ProtCh=p.G837=;VC=Silent;Gene=COL6A3/NM_057164.4/0;CC=c.1908C>T;ProtCh=p.G636=;VC=Silent;Gene=COL6A3/NM_057165.4/0;CC=c.2511C>T;ProtCh=p.G837=;VC=Silent;DM=COL6A3/VWA;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:111:66:0:0:60,1,50:1833,20,1733:178.86,0.37,0.00:79.21,-0.08,0.00:99.65,0.44,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.0,123.0,2.8:0,0,0:0,0,0:83,142,83:65,9,68:31,0,39:NM_004369.3(COL6A3) c.3129C>T (p.(=)),-:0.21,-:0.198062,- 2 238283664 . C . . NT END=238285414;NT GT ./. 2 238285988 . C . . NT END=238287278;NT GT ./. 2 238287879 . C . . NT END=238289557;NT GT ./. 2 238290143 . C . . NT END=238296224;NT GT ./. 2 238296828 . C . . NT END=238303229;NT GT ./. 2 238303848 . C . . NT END=238305369;NT GT ./. 2 238303906 rs2645778 A G 58 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.92-59T>C;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.91+1464T>C;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.91+1464T>C;VC=Intron;Gene=COL6A3/NM_057164.4/0;CC=c.91+1464T>C;VC=Intron;Gene=COL6A3/NM_057165.4/0;CC=c.91+1464T>C;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:11:0:0:18,19:533,599:0.00,57.83:0.00,7.82:0.00,50.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,41.8:0,0:0,0:81,92:69,55:21,29:-,NM_004369.3(COL6A3) c.92-59T>C:-,0.36:-,NOT_FOUND 2 238305211 rs1553032 C T 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=COL6A3/NM_004369.3/1;CC=c.91+159G>A;VC=Intron;Gene=COL6A3/NM_057166.4/0;CC=c.91+159G>A;VC=Intron;Gene=COL6A3/NM_057167.3/0;CC=c.91+159G>A;VC=Intron;Gene=COL6A3/NM_057164.4/0;CC=c.91+159G>A;VC=Intron;Gene=COL6A3/NM_057165.4/0;CC=c.91+159G>A;VC=Intron;DM=COL6A3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:11:0:0:11:346:39.84:39.84:0.00:1.00:1.00:0.00:60:31.5:0:0:68:83:43:NM_004369.3(COL6A3) c.91+159G>A,NM_004369.3(COL6A3) c.91+159G>A:0.72,0.72:NOT_FOUND,NOT_FOUND 2 238305461 . T . . NT END=238402069;NT GT ./. 2 238402180 . G . . NT END=238419216;NT GT ./. 2 238419439 . G . . NT END=238419631;NT GT ./. 2 238419543 rs71887544 CGT C 69 rn VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=470;PC=0.004;Gene=MLPH/NM_001281474.1/0;CC=c.333-65_333-64delTG;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.333-65_333-64delTG;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.333-65_333-64delTG;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.333-65_333-64delTG;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGT,I,C:58:30:1:25:33,1,24:926,31,777:0.00,1.57,69.03:0.00,1.70,40.52:0.00,-0.13,28.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.6,0.0,26.8:0,0,1:0,0,0:57,16,62:93,135,87:51,0,27:-,NM_024101.5(MLPH) c.333-88_333-87delGT:-,NOT_FOUND:-,NOT_FOUND 2 238419611 rs2292879 A G 104 nt VT=SNV;PN=G;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.333-21A>G;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.333-21A>G;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.333-21A>G;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.333-21A>G;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding;Gene=MIR6811/NR_106869.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:89:63:0:0:51,1,37:1594,10,1128:0.00,-0.14,104.44:0.00,-0.02,61.36:0.00,-0.12,43.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.6,10.0,37.5:0,0,0:0,0,0:57,52,45:92,99,104:29,0,27:-,NM_024101.5(MLPH) c.333-21A>G:-,0.34:-,0.344533 2 238419745 . G . . NT END=238427181;NT GT ./. 2 238426953 rs3751111 G T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MLPH/NM_001281474.1/0;CC=c.446-229G>T;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.446-229G>T;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.446-229G>T;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.446-229G>T;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:G,T:8:8:0:0:4,4:120,92:0.00,8.67:0.00,8.67:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:7.8,39.2:0,0:0,0:55,40:92,111:37,11:-,NM_024101.5(MLPH) c.446-229G>T:-,0.17:-,NOT_FOUND 2 238427142 rs3751110 T C 108 nt VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.446-40T>C;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.446-40T>C;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.446-40T>C;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.446-40T>C;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:85:76:0:0:38,47:1151,1554:107.84,0.00:86.25,0.00:21.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.8,12.3:0,0:0,0:47,30:103,107:26,23:NM_024101.5(MLPH) c.446-40T>C,-:0.17,-:0.225697,- 2 238427194 rs3751109 T C 176 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.458T>C;ProtCh=p.L153P;VC=Missense;Gene=MLPH/NM_001042467.2/0;CC=c.458T>C;ProtCh=p.L153P;VC=Missense;Gene=MLPH/NM_001281473.1/0;CC=c.458T>C;ProtCh=p.L153P;VC=Missense;Gene=MLPH/NM_024101.6/1;CC=c.458T>C;ProtCh=p.L153P;VC=Missense;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:125:99:0:0:59,66:1851,2257:175.67,0.00:104.74,0.00:70.93,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:78.1,10.9:0,0:0,0:55,65:92,84:33,23:NM_024101.5(MLPH) c.458T>C (p.Leu153Pro),-:0.17,-:0.229083,- 2 238427251 rs3751107 G A 191 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MLPH/NM_001281474.1/0;CC=c.515G>A;ProtCh=p.G172D;VC=Missense;Gene=MLPH/NM_001042467.2/0;CC=c.515G>A;ProtCh=p.G172D;VC=Missense;Gene=MLPH/NM_001281473.1/0;CC=c.515G>A;ProtCh=p.G172D;VC=Missense;Gene=MLPH/NM_024101.6/1;CC=c.515G>A;ProtCh=p.G172D;VC=Missense;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:131:82:0:0:65,66:1996,2169:191.09,0.00:82.11,0.00:108.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.4,4.8:0,0:0,0:90,89:55,59:23,26:NM_024101.5(MLPH) c.515G>A (p.Gly172Asp),-:0.17,-:0.229509,- 2 238427292 . G . . NT END=238428552;NT GT ./. 2 238428256 rs10176842 T C 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.556-297T>C;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.556-297T>C;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+965T>C;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.556-297T>C;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,T:4:4:0:0:2,2:70,54:6.75,0.00:6.75,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:85.0,12.0:0,0:0,0:116,33:33,118:16,2:NM_024101.5(MLPH) c.556-297T>C,-:0.41,-:NOT_FOUND,- 2 238428327 rs56853932 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.556-226T>C;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.556-226T>C;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+1036T>C;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.556-226T>C;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:C,T:11:11:0:0:6,5:174,160:16.96,0.00:16.96,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:120.8,14.8:0,0:0,0:20,60:131,91:12,46:NM_024101.5(MLPH) c.556-226T>C,-:0.16,-:NOT_FOUND,- 2 238428330 rs57140815 A G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.556-223A>G;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.556-223A>G;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+1039A>G;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.556-223A>G;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:A,G:11:11:0:0:5,6:156,186:0.00,18.17:0.00,18.17:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:14.8,120.8:0,0:0,0:63,23:88,128:46,12:-,NM_024101.5(MLPH) c.556-223A>G:-,0.24:-,NOT_FOUND 2 238428418 rs3751106 G A 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.556-135G>A;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.556-135G>A;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+1127G>A;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.556-135G>A;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:29:0:0:13,17:405,493:37.79,0.00:33.19,0.00:4.60,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:107.9,15.7:0,0:0,0:23,47:128,104:18,18:NM_024101.5(MLPH) c.556-135G>A,-:0.25,-:NOT_FOUND,- 2 238428454 rs75559690 T C 72 nt VT=SNV;PN=C;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.556-99T>C;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.556-99T>C;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+1163T>C;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.556-99T>C;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:46:0:0:24,29:768,936:72.39,0.00:51.66,0.00:20.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:94.1,17.3:0,0:0,0:34,44:115,104:22,32:NM_024101.5(MLPH) c.556-99T>C,-:0.15,-:NOT_FOUND,- 2 238428459 rs3751105 G A 76 nt VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MLPH/NM_001281474.1/0;CC=c.556-94G>A;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.556-94G>A;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+1168G>A;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.556-94G>A;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:45:0:0:25,29:800,869:75.74,0.00:52.18,0.00:23.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:91.2,17.9:0,0:0,0:39,60:112,86:24,34:NM_024101.5(MLPH) c.556-94G>A,-:0.16,-:NOT_FOUND,- 2 238428673 . G . . NT END=238434243;NT GT ./. 2 238428823 rs55919896 A T 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.675+151A>T;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.675+151A>T;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+1532A>T;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.675+151A>T;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:0:0:0:14,10:407,277:0.00,25.38:0.00,0.00:0.00,25.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.2,44.9:0,0:0,0:101,93:50,57:33,41:-,NM_024101.5(MLPH) c.675+151A>T:-,0.18:-,NOT_FOUND 2 238428961 rs78063959 G A 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MLPH/NM_001281474.1/0;CC=c.675+289G>A;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.675+289G>A;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.555+1670G>A;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.675+289G>A;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:6:0:0:0:4,2:89,64:9.13,0.00:0.00,0.00:9.13,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:48.0,15.5:0,0:0,0:116,141:34,9:30,8:NM_024101.5(MLPH) c.675+289G>A,-:0.11,-:NOT_FOUND,- 2 238433965 rs6705908 T C 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.002;Gene=MLPH/NM_001281474.1/0;CC=c.675+5293T>C;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.676-279T>C;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.556-279T>C;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.676-279T>C;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:5:0:0:3,2:98,70:9.77,0.00:9.77,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:53.0,0.0:0,0:0,0:26,30:110,120:6,0:NM_024101.5(MLPH) c.676-279T>C,-:0.29,-:NOT_FOUND,- 2 238434434 rs11883500 C T 127 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.675+5762C>T;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.866C>T;ProtCh=p.T289I;VC=Missense;Gene=MLPH/NM_001281473.1/0;CC=c.746C>T;ProtCh=p.T249I;VC=Missense;Gene=MLPH/NM_024101.6/1;CC=c.866C>T;ProtCh=p.T289I;VC=Missense;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:87:45:0:0:44,43:1460,1327:0.00,127.00:0.00,36.71:0.00,90.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,38.7:0,0:0,0:91,105:47,45:30,27:-,NM_024101.5(MLPH) c.866C>T (p.Thr289Ile):-,0.13:-,0.190557 2 238434449 . G . . NT END=238436019;NT GT ./. 2 238434605 rs11890255 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.675+5933A>G;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.880+157A>G;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.760+157A>G;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.880+157A>G;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:11,7:316,248:0.00,22.93:0.00,0.00:0.00,22.93:0.00,0.98:0.00,0.00:0.00,0.98:60,60:17.7,45.0:0,0:0,0:115,84:35,67:18,29:-,NM_024101.5(MLPH) c.880+157A>G:-,0.13:-,NOT_FOUND 2 238436160 . G . . NT END=238443206;NT GT ./. 2 238443226 rs2292884 A G 73 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.676-5765A>G;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1021-5765A>G;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.901-5765A>G;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1040A>G;ProtCh=p.H347R;VC=Missense;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:39:0:0:24,24:802,761:0.00,73.07:0.00,38.72:0.00,34.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,37.8:0,0:0,0:46,85:89,65:27,37:-,NM_024101.5(MLPH) c.1040A>G (p.His347Arg):-,0.33:-,0.360757 2 238443291 . G . . NT END=238448990;NT GT ./. 2 238443407 rs2292885 G C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.676-5584G>C;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1021-5584G>C;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.901-5584G>C;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1104+117G>C;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:18:0:0:0:7,11:244,352:22.52,0.00:0.00,0.00:22.52,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:34.9,17.6:0,0:0,0:104,71:47,78:23,50:NM_024101.5(MLPH) c.1104+117G>C,-:0.41,-:NOT_FOUND,- 2 238449107 rs2271809 A G 162 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=131;DB;DBA=NA;PAF=NA;PC=0.209;Gene=MLPH/NM_001281474.1/0;CC=c.792A>G;ProtCh=p.E264=;VC=Silent;Gene=MLPH/NM_001042467.2/0;CC=c.1137A>G;ProtCh=p.E379=;VC=Silent;Gene=MLPH/NM_001281473.1/0;CC=c.1017A>G;ProtCh=p.E339=;VC=Silent;Gene=MLPH/NM_024101.6/1;CC=c.1221A>G;ProtCh=p.E407=;VC=Silent;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:131:89:0:0:77,54:2549,1744:0.00,161.60:0.00,76.98:0.00,84.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,41.2:0,0:0,0:67,102:77,46:40,29:-,NM_024101.5(MLPH) c.1221A>G (p.(=)):-,0.44:-,0.435712 2 238449177 . G . . NT END=238449444;NT GT ./. 2 238449601 . G . . NT END=238451209;NT GT ./. 2 238451303 . G . . NT END=238454099;NT GT ./. 2 238451395 . GA G 9 nt VT=DEL;SST=Single;DP=7;NP=2;PC=0.003;Gene=MLPH/NM_001281474.1/0;CC=c.1110+94delA;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1455+94delA;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1179+94delA;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1539+94delA;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:GA,G:7:1:0:3:4,3:127,99:0.00,9.26:0.00,-0.24:0.00,9.50:0.00,0.69:0.00,0.62:0.00,0.95:60,60:71.2,70.0:0,0:0,0:140,134:-9,17:8,0:-,NM_024101.5(MLPH) c.1539+94delA:-,NOT_FOUND:-,NOT_FOUND 2 238451397 . G C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;NP=2;Gene=MLPH/NM_001281474.1/0;CC=c.1110+95G>C;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1455+95G>C;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1179+95G>C;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1539+95G>C;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,G:6:0:0:0:3,3:95,94:9.12,0.00:0.00,0.00:9.12,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:70.0,88.0:0,0:0,0:135,134:16,-22:0,2:NM_024101.5(MLPH) c.1539+95G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 238453806 rs138245970 T TG 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=10;PC=0.563;Gene=MLPH/NM_001281474.1/0;CC=c.1111-1437dupG;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1456-1437dupG;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1180-1437dupG;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1540-1437dupG;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TG:4:4:3:0:1,3:32,81:0.00,8.55:0.00,8.55:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:41.0,86.7:0,0:0,0:34,30:103,107:0,8:-,NM_024101.5(MLPH) c.1540-1443_1540-1442insG:-,NOT_FOUND:-,NOT_FOUND 2 238453831 rs11688277 C G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.1111-1418C>G;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1456-1418C>G;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1180-1418C>G;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1540-1418C>G;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:139:16.27:16.27:0.00:1.00:1.00:0.00:60:66.8:1:0:56:81:8:NM_024101.5(MLPH) c.1540-1418C>G,NM_024101.5(MLPH) c.1540-1418C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 238454152 rs139727526 ACC A 142 PASS VT=DEL;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=21;Gene=MLPH/NM_001281474.1/0;CC=c.1111-1095_1111-1094delCC;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1456-1095_1456-1094delCC;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1180-1095_1180-1094delCC;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1540-1095_1540-1094delCC;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACC,A:108:87:0:47:61,47:1987,1519:0.00,142.23:0.00,94.69:0.00,47.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.8,9.8:0,0:0,0:68,70:66,78:32,25:-,NM_024101.5(MLPH) c.1540-1096_1540-1095delCC:-,0.08:-,NOT_FOUND 2 238454206 rs114851412 G A 163 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=122;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.1111-1043G>A;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1456-1043G>A;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1180-1043G>A;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1540-1043G>A;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:122:78:0:0:55,67:1737,2180:163.43,0.00:70.20,0.00:93.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,12.2:0,0:0,0:81,57:68,93:28,35:NM_024101.5(MLPH) c.1540-1043G>A,-:0.02,-:NOT_FOUND,- 2 238454289 . G . . NT END=238455248;NT GT ./. 2 238454444 rs146154829 TCAGATCAACAA T 10 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=173;Gene=MLPH/NM_001281474.1/0;CC=c.1111-803_1111-793delAGATCAACAAC;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1456-803_1456-793delAGATCAACAAC;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1180-803_1180-793delAGATCAACAAC;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1540-803_1540-793delAGATCAACAAC;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:TCAGATCAACAA,T:16:0:0:4:12,4:367,124:0.00,10.41:0.00,0.00:0.00,10.41:0.00,0.75:0.00,0.00:0.00,0.75:60,60:3.8,5.2:0,0:0,0:126,59:24,91:20,0:-,NM_024101.5(MLPH) c.1540-804_1540-794delCAGATCAACAA:-,0.1:-,NOT_FOUND 2 238455327 . G . . NT END=238457863;NT GT ./. 2 238457684 rs10173589 A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=MLPH/NM_001281474.1/0;CC=c.1189-180A>G;VC=Intron;Gene=MLPH/NM_001042467.2/0;CC=c.1534-180A>G;VC=Intron;Gene=MLPH/NM_001281473.1/0;CC=c.1258-180A>G;VC=Intron;Gene=MLPH/NM_024101.6/1;CC=c.1618-180A>G;VC=Intron;Gene=MLPH/NR_104019.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:21:0:0:11,10:345,279:0.00,26.30:0.00,24.62:0.00,1.68:0.00,1.00:0.00,1.00:0.00,0.65:60,60:4.0,31.2:0,0:0,0:72,55:78,94:53,47:-,NM_024101.5(MLPH) c.1618-180A>G:-,0.18:-,NOT_FOUND 2 238457922 . G . . NT END=238460979;NT GT ./. 2 238461081 . G . . NT END=238462208;NT GT ./. 2 238462236 . C . . NT END=238475216;NT GT ./. 2 238475317 . G . . NT END=238475654;NT GT ./. 2 238475819 . C . . NT END=238483661;NT GT ./. 2 238483772 . C . . NT END=238484029;NT GT ./. 2 238484124 . C . . NT END=238485899;NT GT ./. 2 238486026 . C . . NT END=238486646;NT GT ./. 2 238486799 . C . . NT END=238494640;NT GT ./. 2 238494798 . G . . NT END=238536287;NT GT ./. 2 238536384 . G . . NT END=238600798;NT GT ./. 2 238600769 rs570507136 G GC 85 nt VT=INS;SST=Single;DP=78;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;PC=0.055;Gene=LRRFIP1/NM_001137550.1/1;CC=c.97-16414dupC;VC=Intron;DM=LRRFIP1/DUF2051;DM=LRRFIP1/DUF2051;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:78:78:30:0:48,30:1390,929:0.00,84.72:0.00,83.35:0.00,1.36:0.00,1.00:0.00,1.00:0.00,0.86:60,70:21.3,17.9:2,0:0,0:54,44:92,92:25,18:-,NM_001137552.1(LRRFIP1) c.-292-u38_-292-u37insC:-,NOT_FOUND:-,NOT_FOUND 2 238601165 . G . . NT END=238617186;NT GT ./. 2 238617274 . G . . NT END=238622901;NT GT ./. 2 238622920 . G . . NT END=238626404;NT GT ./. 2 238626453 . G . . NT END=238628165;NT GT ./. 2 238628211 . G . . NT END=238629414;NT GT ./. 2 238629466 . G . . NT END=238632190;NT GT ./. 2 238632230 . G . . NT END=238636518;NT GT ./. 2 238636579 . G . . NT END=238638422;NT GT ./. 2 238638486 . G . . NT END=238642416;NT GT ./. 2 238638497 rs869435 T C 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;PC=0.997;Gene=LRRFIP1/NM_001137550.1/1;CC=c.444+1919T>C;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.249+9032T>C;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.154-18510T>C;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.249+9032T>C;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.154-18510T>C;VC=Intron;DM=LRRFIP1/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:15:0:0:21,16:684,527:67.39,0.00:16.40,0.00:50.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.0,3.7:0,0:0,0:111,84:30,66:28,25:NM_001137552.1(LRRFIP1) c.249+9032T>C,-:0.15,-:NOT_FOUND,- 2 238638531 rs869434 A G 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LRRFIP1/NM_001137550.1/1;CC=c.444+1953A>G;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.249+9066A>G;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.154-18476A>G;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.249+9066A>G;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.154-18476A>G;VC=Intron;DM=LRRFIP1/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:7:0:0:16,12:517,407:0.00,38.12:0.00,6.41:0.00,31.71:0.00,1.00:0.00,0.69:0.00,1.00:60,60:2.4,78.0:0,0:0,0:112,97:37,37:27,23:-,NM_001137552.1(LRRFIP1) c.249+9066A>G:-,0.4:-,NOT_FOUND 2 238642462 . G . . NT END=238643910;NT GT ./. 2 238643907 rs3769078 G A 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.490-4G>A;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.250-13100G>A;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.154-13100G>A;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.250-13100G>A;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.154-13100G>A;VC=Intron;DM=LRRFIP1/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:36:0:0:16,24:505,793:46.43,0.00:22.64,0.00:23.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,2.9:0,0:0,0:44,37:99,90:24,16:NM_001137552.1(LRRFIP1) c.250-13100G>A,-:0.14,-:0.114175,- 2 238643977 . G . . NT END=238647874;NT GT ./. 2 238647953 . G . . NT END=238657006;NT GT ./. 2 238648144 rs3769072 C G 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.014;Gene=LRRFIP1/NM_001137550.1/1;CC=c.633+192C>G;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.250-8863C>G;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.154-8863C>G;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.250-8863C>G;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.154-8863C>G;VC=Intron;DM=LRRFIP1/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:0:0:0:8,10:264,323:0.00,31.69:0.00,0.00:0.00,31.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.2,44.4:0,0:0,0:97,74:53,76:17,27:-,NM_001137552.1(LRRFIP1) c.250-8863C>G:-,0.39:-,NOT_FOUND 2 238656936 rs2304431 A G 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.634-71A>G;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.250-71A>G;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.154-71A>G;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.250-71A>G;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.154-71A>G;VC=Intron;DM=LRRFIP1/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:24:0:0:11,16:362,429:0.00,42.47:0.00,36.87:0.00,5.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,27.7:0,0:0,0:46,60:102,89:25,34:-,NM_001137552.1(LRRFIP1) c.250-71A>G:-,0.4:-,0.294569 2 238657043 . G . . NT END=238657841;NT GT ./. 2 238657968 . G . . NT END=238659842;NT GT ./. 2 238659708 rs3769062 C T 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.796-135C>T;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.412-135C>T;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.315+1741C>T;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.411+1741C>T;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.315+1741C>T;VC=Intron;DM=LRRFIP1/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:12:12:0:0:6,6:183,200:0.00,19.25:0.00,19.25:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:8.7,52.8:0,0:0,0:15,65:135,85:8,33:-,NM_001137552.1(LRRFIP1) c.412-135C>T:-,0.4:-,NOT_FOUND 2 238659915 . G . . NT END=238661951;NT GT ./. 2 238661832 rs733579 T C 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.012;Gene=LRRFIP1/NM_001137550.1/1;CC=c.868-120T>C;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.484-120T>C;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.316-120T>C;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.412-120T>C;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.316-120T>C;VC=Intron;DM=LRRFIP1/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:C,T:17:17:0:0:12,5:377,142:38.92,0.00:38.92,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.8,12.2:0,0:0,0:80,35:70,116:30,32:NM_001137552.1(LRRFIP1) c.484-120T>C,-:0.34,-:NOT_FOUND,- 2 238661870 rs3832061 GT G 34 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=868;Gene=LRRFIP1/NM_001137550.1/1;CC=c.868-73delT;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.484-73delT;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.316-73delT;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.412-73delT;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.316-73delT;VC=Intron;DM=LRRFIP1/DUF2051;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:29:29:0:13:16,13:489,368:0.00,34.33:0.00,32.70:0.00,1.64:0.00,1.00:0.00,1.00:0.00,0.75:60,60:10.0,38.5:0,0:0,0:19,74:131,76:14,47:-,NM_001137552.1(LRRFIP1) c.484-81delT:-,0.35:-,NOT_FOUND 2 238662123 . G . . NT END=238664737;NT GT ./. 2 238662154 rs3769061 A G 118 nt VT=SNV;PN=A;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.001;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1038+32A>G;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.654+32A>G;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.486+32A>G;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.582+32A>G;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.486+32A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:73:33:0:0:34,1,38:1086,11,1216:0.00,-0.04,118.03:0.00,-0.08,30.19:0.00,0.04,87.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.2,20.0,37.5:0,0,0:0,0,0:108,114,109:34,37,39:34,0,24:-,NM_001137552.1(LRRFIP1) c.654+32A>G:-,0.26:-,0.169691 2 238664831 . G . . NT END=238666098;NT GT ./. 2 238666192 . G . . NT END=238667371;NT GT ./. 2 238667465 . G . . NT END=238668706;NT GT ./. 2 238667501 rs571216847 G GA 20 rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=155;NP=1609;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1317+45dupA;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.748-1198dupA;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.580-1198dupA;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.676-1198dupA;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.580-1198dupA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:22:6:7:0:15,7:507,230:0.00,20.36:0.00,2.83:0.00,17.53:0.00,0.97:0.00,0.88:0.00,1.00:60,60:10.4,13.6:0,0:0,0:97,89:54,62:35,31:-,NM_001137552.1(LRRFIP1) c.748-1206_748-1205insA:-,NOT_FOUND:-,0.358042 2 238668802 rs3213868 A G 124 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1413A>G;ProtCh=p.T471=;VC=Silent;Gene=LRRFIP1/NM_001137552.1/0;CC=c.843A>G;ProtCh=p.T281=;VC=Silent;Gene=LRRFIP1/NM_001137553.1/0;CC=c.675A>G;ProtCh=p.T225=;VC=Silent;Gene=LRRFIP1/NM_004735.3/0;CC=c.771A>G;ProtCh=p.T257=;VC=Silent;Gene=LRRFIP1/NM_001137551.1/0;CC=c.675A>G;ProtCh=p.T225=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:71:48:0:0:33,38:1083,1270:0.00,123.85:0.00,58.71:0.00,65.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,35.2:0,0:0,0:86,53:60,94:35,22:-,NM_001137552.1(LRRFIP1) c.843A>G (p.(=)):-,0.37:-,0.273797 2 238668849 . G . . NT END=238671245;NT GT ./. 2 238671117 rs734388 A G 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1459+2269A>G;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.890-129A>G;VC=Intron;Gene=LRRFIP1/NM_001137553.1/0;CC=c.722-129A>G;VC=Intron;Gene=LRRFIP1/NM_004735.3/0;CC=c.818-129A>G;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.721+2269A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:29:0:0:12,17:387,494:0.00,48.96:0.00,48.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.9,49.1:0,0:0,0:52,34:99,116:31,23:-,NM_001137552.1(LRRFIP1) c.890-129A>G:-,0.37:-,NOT_FOUND 2 238671328 rs868119 A G 202 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=NA;PC=0.964;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1459+2480A>G;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.972A>G;ProtCh=p.E324=;VC=Silent;Gene=LRRFIP1/NM_001137553.1/0;CC=c.804A>G;ProtCh=p.E268=;VC=Silent;Gene=LRRFIP1/NM_004735.3/0;CC=c.900A>G;ProtCh=p.E300=;VC=Silent;Gene=LRRFIP1/NM_001137551.1/0;CC=c.721+2480A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:112:80:0:0:50,62:1570,2060:0.00,202.12:0.00,99.20:0.00,102.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.4,40.7:0,0:0,0:58,71:88,77:40,34:-,NM_001137552.1(LRRFIP1) c.972A>G (p.(=)):-,0.33:-,0.245502 2 238672703 rs3739038 C G 322 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=201;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1459+3855C>G;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.2347C>G;ProtCh=p.H783D;VC=Missense;Gene=LRRFIP1/NM_001137553.1/0;CC=c.2179C>G;ProtCh=p.H727D;VC=Missense;Gene=LRRFIP1/NM_004735.3/0;CC=c.2275C>G;ProtCh=p.H759D;VC=Missense;Gene=LRRFIP1/NM_001137551.1/0;CC=c.721+3855C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:201:136:0:0:1,99,101:11,3227,3339:-0.15,0.00,321.88:-0.05,0.00,170.99:-0.10,0.00,150.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:31.0,7.2,40.0:0,0,0:0,0,0:129,75,60:20,76,89:0,41,34:-,NM_001137552.1(LRRFIP1) c.2347C>G (p.His783Asp):-,0.37:-,0.279794 2 238673639 . t . . NT END=238674083;NT GT ./. 2 238673905 . TA T 7 rn VT=DEL;SST=Single;DP=20;PC=0.013;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1460-4664delA;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.*1139delA;VC=3UTR;Gene=LRRFIP1/NM_001137553.1/0;CC=c.*1139delA;VC=3UTR;Gene=LRRFIP1/NM_004735.3/0;CC=c.*1139delA;VC=3UTR;Gene=LRRFIP1/NM_001137551.1/0;CC=c.722-4664delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:TA,I,T:20:18:1:3:16,1,3:523,30,92:0.00,1.82,7.03:0.00,1.87,7.17:0.00,-0.04,-0.14:0.00,0.00,0.50:0.00,0.00,0.89:0.00,0.00,0.40:60,60,60:19.6,97.0,4.3:0,0,0:0,0,0:37,31,23:106,118,128:28,0,10:-,NM_001137552.1(LRRFIP1) c.*1123A[16]:-,NOT_FOUND:-,NOT_FOUND 2 238673920 . AAACAC A 7 nt VT=DEL;SST=Single;DP=24;NP=1;PC=0.004;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1460-4664_1460-4660delACACA;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.*1139_*1143delACACA;VC=3UTR;Gene=LRRFIP1/NM_001137553.1/0;CC=c.*1139_*1143delACACA;VC=3UTR;Gene=LRRFIP1/NM_004735.3/0;CC=c.*1139_*1143delACACA;VC=3UTR;Gene=LRRFIP1/NM_001137551.1/0;CC=c.722-4664_722-4660delACACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:AAACAC,A:24:23:0:3:21,3:678,91:0.00,6.61:0.00,6.66:0.00,-0.06:0.00,0.47:0.00,0.89:0.00,0.42:60,60:22.9,14.3:8,0:0,0:28,47:115,103:19,11:-,NM_001137552.1(LRRFIP1) c.*1139_*1143delACACA:-,NOT_FOUND:-,NOT_FOUND 2 238673921 rs374059561 AACAC A 19 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=28;PC=0.004;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1460-4653_1460-4650delCACA;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.*1150_*1153delCACA;VC=3UTR;Gene=LRRFIP1/NM_001137553.1/0;CC=c.*1150_*1153delCACA;VC=3UTR;Gene=LRRFIP1/NM_004735.3/0;CC=c.*1150_*1153delCACA;VC=3UTR;Gene=LRRFIP1/NM_001137551.1/0;CC=c.722-4653_722-4650delCACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AACAC,A:21:20:0:10:14,7:450,215:0.00,19.03:0.00,19.21:0.00,-0.18:0.00,0.97:0.00,1.00:0.00,0.56:60,60:28.6,11.4:1,0:0,0:32,29:118,113:23,8:-,NM_001137552.1(LRRFIP1) c.*1140CA[5]:-,NOT_FOUND:-,NOT_FOUND 2 238674078 rs60482580 TA T 73 idl,rn VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.847;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1460-4483delA;VC=Intron;Gene=LRRFIP1/NM_001137552.1/0;CC=c.*1320delA;VC=3UTR;Gene=LRRFIP1/NM_001137553.1/0;CC=c.*1320delA;VC=3UTR;Gene=LRRFIP1/NM_004735.3/0;CC=c.*1320delA;VC=3UTR;Gene=LRRFIP1/NM_001137551.1/0;CC=c.722-4483delA;VC=Intron;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:69:76:3:35:1,41,2,25:35,1206,101,1094:1.86,0.00,4.01,73.20:1.88,0.00,4.03,71.91:-0.01,0.00,-0.03,1.29:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.84:57,60,60,60:249.0,41.1,73.0,49.3:0,0,1,9:0,0,0,0:40,92,52,39:89,52,99,100:0,40,18,22:-,NM_001137552.1(LRRFIP1) c.*1296A[24]:-,NOT_FOUND:-,NOT_FOUND 2 238674559 . G . . NT END=238678585;NT GT ./. 2 238674791 rs56074707 T C 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1460-3795T>C;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.722-3795T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,T:9:0:0:0:4,5:126,174:11.82,0.00:0.00,0.00:11.82,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:31.5,5.6:0,0:0,0:104,85:46,66:27,23:NM_001137550.1(LRRFIP1) c.1460-3795T>C,-:0.21,-:NOT_FOUND,- 2 238678636 . G . . NT END=238680723;NT GT ./. 2 238680842 . G . . NT END=238681508;NT GT ./. 2 238681589 . G . . NT END=238683000;NT GT ./. 2 238683106 . G . . NT END=238687977;NT GT ./. 2 238683166 rs2279644 G A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1812+61G>A;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.1074+61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,G:20:4:0:0:13,7:443,200:44.94,0.00:2.94,0.00:42.00,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:39.8,5.1:0,0:0,0:84,129:67,22:40,13:NM_001137550.1(LRRFIP1) c.1812+61G>A,-:0.34,-:NOT_FOUND,- 2 238687893 rs60023357 G A 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.1813-172G>A;VC=Intron;Gene=LRRFIP1/NM_001137551.1/0;CC=c.1075-172G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:46:0:0:21,28:692,824:64.72,0.00:54.75,0.00:9.97,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:43.7,7.7:0,0:0,0:29,36:122,115:16,19:NM_001137550.1(LRRFIP1) c.1813-172G>A,-:0.27,-:NOT_FOUND,- 2 238688047 . C . . NT END=238688064;NT GT ./. 2 238688176 . A . . NT END=238722249;NT GT ./. 2 238688244 rs1151798 A G 129 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=3318;PC=0.007;Gene=LRRFIP1/NM_001137550.1/1;CC=c.*69A>G;VC=3UTR;Gene=LRRFIP1/NM_001137551.1/0;CC=c.*69A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:1:0:0:35:1125:129.16:1.99:127.17:1.00:1.00:1.00:60:53.0:0:0:113:38:22:NM_001137550.1(LRRFIP1) c.*69A>G,NM_001137550.1(LRRFIP1) c.*69A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 238688275 rs2117363 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.*100C>T;VC=3UTR;Gene=LRRFIP1/NM_001137551.1/0;CC=c.*100C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:0:0:0:14,9:428,286:0.00,26.21:0.00,0.00:0.00,26.21:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.5,94.6:0,0:0,0:118,118:31,33:24,24:-,NM_001137550.1(LRRFIP1) c.*100C>T:-,0.28:-,NOT_FOUND 2 238688305 rs2117364 C T 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=LRRFIP1/NM_001137550.1/1;CC=c.*130C>T;VC=3UTR;Gene=LRRFIP1/NM_001137551.1/0;CC=c.*130C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:8,7:272,223:0.00,21.14:0.00,0.00:0.00,21.14:0.00,0.99:0.00,0.00:0.00,0.99:60,60:27.0,97.4:0,0:0,0:101,101:49,25:34,47:-,NM_001137550.1(LRRFIP1) c.*130C>T:-,0.28:-,NOT_FOUND 2 238722326 . G . . NT END=238725635;NT GT ./. 2 238727240 . G . . NT END=238727543;NT GT ./. 2 238727603 . G . . NT END=238728817;NT GT ./. 2 238728995 . G . . NT END=238729713;NT GT ./. 2 238729898 . G . . NT END=238729988;NT GT ./. 2 238730012 . G . . NT END=238730385;NT GT ./. 2 238730471 . G . . NT END=238732082;NT GT ./. 2 238730522 rs72987141 G A 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.050;Gene=RBM44/NM_001080504.2/1;CC=c.2208+52G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:4:0:0:9,10:282,318:26.79,0.00:3.10,0.00:23.69,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:44.6,2.2:0,0:0,0:54,78:96,68:15,26:NM_001080504.2(RBM44) c.2208+52G>A,-:0.08,-:0.094389,- 2 238732198 . G . . NT END=238732933;NT GT ./. 2 238732864 rs72991078 G A 77 nt VT=SNV;PN=G;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=RBM44/NM_001080504.2/1;CC=c.2324-70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:42:40:0:0:25,16,1:770,483,9:76.99,0.00,0.00:65.93,0.00,0.04:11.06,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.2,12.7,73.0:0,0,0:0,0,0:54,33,90:97,113,61:32,18,0:NM_001080504.2(RBM44) c.2324-70G>A,-:0.02,-:NOT_FOUND,- 2 238733063 . G . . NT END=238735892;NT GT ./. 2 238735973 . G . . NT END=238736075;NT GT ./. 2 238736147 . G . . NT END=238737859;NT GT ./. 2 238738146 . G . . NT END=238742639;NT GT ./. 2 238742786 . G . . NT END=238742920;NT GT ./. 2 238743045 . G . . NT END=238768318;NT GT ./. 2 238768160 rs2304435 G C 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:14:14:0:0:7,7:226,186:21.79,0.00:21.79,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.6,11.9:0,0:0,0:32,27:119,124:21,22:NM_005855.2(RAMP1) c.-132-u27G>C,-:0.48,-:NOT_FOUND,- 2 238768371 . G . . NT END=238783291;NT GT ./. 2 238783348 . G . . NT END=238785865;NT GT ./. 2 238786005 . G . . NT END=238786634;NT GT ./. 2 238786132 rs1210881 G T 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=RAMP1/NM_001308353.1/1;CC=c.125+128G>T;VC=Intron;Gene=RAMP1/NM_005855.3/0;CC=c.191+128G>T;VC=Intron;DM=RAMP1/RAMP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:1:0:0:12,9:391,226:0.00,20.61:0.00,1.80:0.00,18.81:0.00,1.00:0.00,0.62:0.00,1.00:60,60:15.1,42.0:0,0:0,0:62,116:89,35:25,16:-,NM_005855.2(RAMP1) c.191+128G>T:-,0.43:-,NOT_FOUND 2 238786759 . C . . NT END=238820169;NT GT ./. 2 238819879 rs11321617 AT A 20 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=13;Gene=RAMP1/NM_001308353.1/1;CC=c.126-288delT;VC=Intron;Gene=RAMP1/NM_005855.3/0;CC=c.192-288delT;VC=Intron;DM=RAMP1/RAMP;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:6:6:172:20.05:20.05:0.00:1.00:1.00:0.00:60:22.3:0:0:38:112:23:NM_005855.2(RAMP1) c.192-290delT,NM_005855.2(RAMP1) c.192-290delT:0.41,0.41:NOT_FOUND,NOT_FOUND 2 238820426 . G . . NT END=238875728;NT GT ./. 2 238823099 rs375567461 T TGC 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=96;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TGC:4:3:3:0:1,3:31,90:0.00,9.45:0.00,3.10:0.00,6.35:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,69.7:0,0:0,0:4,22:143,119:0,14:-,chr2 g.238823099_238823100insGC (intergenic):-,0.16:-,NOT_FOUND 2 238823137 rs114502484 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.072 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:3:0:0:1,3:35,100:0.00,10.45:0.00,3.25:0.00,7.20:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,69.7:0,0:0,0:42,62:105,77:0,12:-,chr2 g.238823136C>T (intergenic):-,0.04:-,NOT_FOUND 2 238823185 rs10188358 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.024 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:5:3:0:0:1,4:34,119:0.00,12.72:0.00,3.13:0.00,9.59:0.00,0.96:0.00,0.99:0.00,1.00:60,60:0.0,77.8:0,0:0,0:90,104:57,34:0,13:-,chr2 g.238823184C>T (intergenic):-,0.19:-,NOT_FOUND 2 238875775 . G . . NT END=238877434;NT GT ./. 2 238875910 rs112460923 T G 60 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=UBE2F/NM_001278306.1/0;CC=c.46+136T>G;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.-17+136T>G;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.-17+136T>G;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.-17+136T>G;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:1:0:0:17:524:60.48:1.89:58.59:1.00:1.00:1.00:60:53.0:0:0:112:37:17:NR_037904.1(UBE2F-SCLY) n.188+136T>G,NR_037904.1(UBE2F-SCLY) n.188+136T>G:0.76,0.76:NOT_FOUND,NOT_FOUND 2 238877409 rs62194508 A C 66 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.002;Gene=UBE2F/NM_001278306.1/0;CC=c.46+1635A>C;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.-17+1635A>C;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.-17+1635A>C;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.-17+1635A>C;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:33:26:0:0:13,20:432,660:0.00,65.93:0.00,39.44:0.00,26.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.9,33.6:0,0:0,0:46,50:103,93:22,37:-,NR_037904.1(UBE2F-SCLY) n.188+1635A>C:-,0.28:-,NOT_FOUND 2 238877462 rs72981207 A C 50 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=UBE2F/NM_001278306.1/0;CC=c.46+1688A>C;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.-17+1688A>C;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.-17+1688A>C;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.-17+1688A>C;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.-106A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:38:25:0:0:22,16:727,532:0.00,49.60:0.00,30.55:0.00,19.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.4,46.4:0,0:0,0:65,83:70,67:25,31:-,NR_037904.1(UBE2F-SCLY) n.188+1688A>C:-,0.06:-,NOT_FOUND 2 238877552 . G . . NT END=238881733;NT GT ./. 2 238881868 . G . . NT END=238882290;NT GT ./. 2 238882390 . G . . NT END=238896604;NT GT ./. 2 238896494 rs59213280 C CA 22 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=16;NP=164;NP=68;Gene=UBE2F/NM_001278306.1/0;CC=c.47-111_47-110insA;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.118+14627_118+14628insA;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.119-111_119-110insA;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.119-111_119-110insA;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.119-111_119-110insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:C,CA,D:12:13:8:1:4,7,1:116,252,33:0.00,22.02,2.53:0.00,18.93,2.54:0.00,3.09,-0.02:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.91,0.00:60,60,60:40.5,9.3,0.0:0,1,0:0,0,0:83,42,11:65,109,140:48,36,0:-,NM_080678.2(UBE2F) c.119-111_119-110insA:-,NOT_FOUND:-,NOT_FOUND 2 238896635 . G . . NT END=238903385;NT GT ./. 2 238903310 rs10203101 C T 145 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=UBE2F/NM_001278306.1/0;CC=c.77-76C>T;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.118+21443C>T;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.149-76C>T;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.149-76C>T;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.149-76C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:T:38:32:0:0:38:1269:145.02:103.76:41.26:1.00:1.00:1.00:60:40.4:0:0:32:118:16:NM_080678.2(UBE2F) c.149-76C>T,NM_080678.2(UBE2F) c.149-76C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 2 238903452 . G . . NT END=238925207;NT GT ./. 2 238925155 . CT C 8 rn VT=DEL;SST=Single;DP=45;NP=23;PC=0.969;Gene=UBE2F/NM_001278306.1/0;CC=c.143-43delT;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.119-43delT;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.215-43delT;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.215-43delT;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.215-43delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:CT,I,C:45:43:2:4:39,2,4:1203,65,115:0.00,3.98,7.65:0.00,4.21,8.12:0.00,-0.22,-0.47:0.00,0.00,0.57:0.00,0.00,0.93:0.00,0.00,0.75:60,60,60:18.7,22.0,51.2:0,0,0:0,0,0:43,16,44:103,135,105:25,4,18:-,NM_080678.2(UBE2F) c.215-52delT:-,NOT_FOUND:-,0.036732 2 238925276 . G . . NT END=238933982;NT GT ./. 2 238925461 rs35692652 TC T 35 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2507;Gene=UBE2F/NM_001278306.1/0;CC=c.210+188delC;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.186+188delC;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.282+188delC;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.282+188delC;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.282+188delC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:10:10:299:34.66:0.00:34.66:1.00:0.00:1.00:60:43.0:0:0:75:75:33:NM_080678.2(UBE2F) c.282+187delC,NM_080678.2(UBE2F) c.282+187delC:0.88,0.88:NOT_FOUND,NOT_FOUND 2 238925473 rs2875817 G A 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=UBE2F/NM_001278306.1/0;CC=c.210+198G>A;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.186+198G>A;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.282+198G>A;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.282+198G>A;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.282+198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:0:0:0:10:256:30.25:0.00:30.25:1.00:0.00:1.00:60:38.5:0:0:64:85:39:NM_080678.2(UBE2F) c.282+198G>A,NM_080678.2(UBE2F) c.282+198G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 2 238934054 . G . . NT END=238939196;NT GT ./. 2 238939000 rs6431578 G A 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=UBE2F/NM_001278306.1/0;CC=c.282-197G>A;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.258-197G>A;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.354-197G>A;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.354-197G>A;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.354-197G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:418:48.47:48.47:0.00:1.00:1.00:0.00:60:53.6:0:0:70:80:31:NM_080678.2(UBE2F) c.354-197G>A,NM_080678.2(UBE2F) c.354-197G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 2 238939255 . G . . NT END=238940862;NT GT ./. 2 238939370 rs11679080 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=UBE2F/NM_001278306.1/0;CC=c.339+116C>T;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.315+116C>T;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.411+116C>T;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.411+116C>T;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.411+116C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:8,6:205,205:0.00,19.22:0.00,0.00:0.00,19.22:0.00,0.96:0.00,0.00:0.00,0.96:60,60:23.8,41.0:0,0:0,0:60,110:90,40:40,24:-,NM_080678.2(UBE2F) c.411+116C>T:-,0.29:-,NOT_FOUND 2 238940896 . G . . NT END=238944518;NT GT ./. 2 238941092 rs201663579 C CA 14 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=35;PC=0.229;Gene=UBE2F/NM_001278306.1/0;CC=c.372+203_372+204insA;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.348+203_348+204insA;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.444+203_444+204insA;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.444+203_444+204insA;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.444+203_444+204insA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,CA:11:0:5:0:6,5:175,150:0.00,14.10:0.00,0.00:0.00,14.10:0.00,0.93:0.00,0.00:0.00,0.93:60,60:6.2,18.6:1,0:0,0:98,109:52,42:44,18:-,NM_080678.2(UBE2F) c.444+197_444+198insA:-,0.04:-,NOT_FOUND 2 238944363 rs6729218 G A 54 nt VT=SNV;PN=G;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=UBE2F/NM_001278306.1/0;CC=c.373-156G>A;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.349-156G>A;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.444+3468G>A;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.445-156G>A;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.445-156G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:464:53.51:53.51:0.00:1.00:1.00:0.00:60:37.5:0:0:31:120:27:NM_080678.2(UBE2F) c.445-156G>A,NM_080678.2(UBE2F) c.445-156G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 2 238944441 rs3832063 ACT A 38 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1074;PC=0.019;Gene=UBE2F/NM_001278306.1/0;CC=c.373-77_373-76delCT;VC=Intron;Gene=UBE2F/NM_001278307.1/0;CC=c.349-77_349-76delCT;VC=Intron;Gene=UBE2F/NM_001278308.1/0;CC=c.444+3547_444+3548delCT;VC=Intron;Gene=UBE2F/NM_080678.2/1;CC=c.445-77_445-76delCT;VC=Intron;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.445-77_445-76delCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACT,A:22:21:0:12:10,12:327,387:0.00,37.84:0.00,22.70:0.00,15.14:0.00,1.00:0.00,1.00:0.00,1.00:60,70:17.9,8.2:0,0:0,0:58,30:92,120:40,17:-,NM_080678.2(UBE2F) c.445-77_445-76delCT:-,0.29:-,NOT_FOUND 2 238944582 . G . . NT END=238949928;NT GT ./. 2 238949980 . T . . NT END=238969671;NT GT ./. 2 238950014 rs535562848 TAC T 77 nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=30;Gene=UBE2F/NM_001278306.1/0;CC=c.*37_*38delCA;VC=3UTR;Gene=UBE2F/NM_001278307.1/0;CC=c.*37_*38delCA;VC=3UTR;Gene=UBE2F/NM_001278308.1/0;CC=c.*37_*38delCA;VC=3UTR;Gene=UBE2F/NM_080678.2/1;CC=c.*37_*38delCA;VC=3UTR;Gene=UBE2F/NR_103498.1/0;VC=NonCoding;Gene=UBE2F/NR_103499.1/0;VC=NonCoding;Gene=UBE2F/NR_103500.1/0;VC=NonCoding;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=UBE2F/NM_001278305.1/0;CC=c.*37_*38delCA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAC,T:51:31:0:25:26,25:842,806:0.00,77.18:0.00,30.91:0.00,46.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,12.9:0,0:0,0:105,97:33,35:28,24:-,NM_080678.2(UBE2F) c.*37_*38delCA:-,NOT_FOUND:-,0.002396 2 238969572 rs397988368 T TG 82 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=670;PC=0.018;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.-96dupG;VC=5UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:T,TG:30:30:26:0:4,26:103,745:0.00,81.80:0.00,78.53:0.00,3.28:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.0,26.5:1,0:0,0:147,59:4,92:2,37:-,NM_016510.5(SCLY) c.-96dupG:-,1:-,NOT_FOUND 2 238969785 . G . . NT END=238972997;NT GT ./. 2 238972827 rs821480 T C 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.114-171T>C;VC=Intron;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:351:39.87:39.87:0.00:1.00:1.00:0.00:60:36.2:0:0:20:130:13:NM_016510.5(SCLY) c.114-171T>C,NM_016510.5(SCLY) c.114-171T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 238973111 . G . . NT END=238976705;NT GT ./. 2 238976807 . G . . NT END=238977937;NT GT ./. 2 238978119 . G . . NT END=238990349;NT GT ./. 2 238990135 rs2249173 G C 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.509-215G>C;VC=Intron;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:320:37.62:37.62:0.00:1.00:1.00:0.00:60:44.5:0:0:25:124:17:NM_016510.5(SCLY) c.509-215G>C,NM_016510.5(SCLY) c.509-215G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 238990388 rs3210400 G A 176 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;PC=1.000;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.547G>A;ProtCh=p.A183T;VC=Missense;DM=SCLY/Aminotran_5;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:123:99:0:0:59,64:1844,2086:175.56,0.00:94.09,0.00:81.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,10.0:0,0:0,0:66,57:82,82:33,30:NM_016510.5(SCLY) c.547G>A (p.Ala183Thr),-:0.3,-:0.311933,- 2 238990478 . G . . NT END=238990685;NT GT ./. 2 238990851 . G . . NT END=238991888;NT GT ./. 2 238990985 rs2249077 T C 89 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.801+135T>C;VC=Intron;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:0:0:0:25:770:88.88:0.00:88.88:1.00:0.00:1.00:60:48.0:0:0:94:56:30:NM_016510.5(SCLY) c.801+135T>C,NM_016510.5(SCLY) c.801+135T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 238991796 rs2278742 C T 70 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.802-93C>T;VC=Intron;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:595:69.82:66.09:3.73:1.00:1.00:1.00:60:35.9:0:0:50:101:26:NM_016510.5(SCLY) c.802-93C>T,NM_016510.5(SCLY) c.802-93C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 2 238991996 . G . . NT END=238999858;NT GT ./. 2 238999883 rs1128552 T C 62 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.933T>C;ProtCh=p.A311=;VC=Silent;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:32:0:0:21,23:654,798:62.19,0.00:35.32,0.00:26.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,1.4:0,0:0,0:65,66:60,74:32,30:NM_016510.5(SCLY) c.933T>C (p.(=)),-:0.18,-:0.214747,- 2 238999896 . G . . NT END=239002501;NT GT ./. 2 239000091 rs17069 T G 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.001;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.945+196T>G;VC=Intron;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:G,T:9:1:0:0:6,3:183,76:18.70,0.00:1.90,0.00:16.80,0.00:0.99,0.00:0.78,0.00:0.99,0.00:60,60:63.3,44.3:0,0:0,0:104,119:45,32:25,5:NM_016510.5(SCLY) c.945+196T>G,-:0.18,-:NOT_FOUND,- 2 239002480 rs72316729 CTTG C 116 nt VT=DEL;SST=Single;DP=74;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1371;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.946-17_946-15delTGT;VC=Intron;DM=SCLY/Aminotran_5;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTG,G,C:74:63:0:38:35,1,38:1159,11,1202:0.00,-0.05,116.37:0.00,0.03,77.96:0.00,-0.08,38.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.8,33.0,7.2:0,0,0:0,0,0:51,23,59:92,128,87:22,0,25:-,NM_016510.5(SCLY) c.946-21_946-19delTTG:-,0.29:-,0.311012 2 239002586 . G . . NT END=239003060;NT GT ./. 2 239002742 rs62196003 A G 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.1029+157A>G;VC=Intron;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:1:0:0:18:562:64.78:3.58:61.20:1.00:1.00:1.00:60:32.6:0:0:119:31:21:NM_016510.5(SCLY) c.1029+157A>G,NM_016510.5(SCLY) c.1029+157A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 239003164 . G . . NT END=239005441;NT GT ./. 2 239005518 . G . . NT END=239006842;NT GT ./. 2 239006650 rs11682046 T C 61 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.1209-193T>C;VC=Intron;DM=SCLY/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:527:60.77:60.77:0.00:1.00:1.00:0.00:60:44.5:0:0:91:59:49:NM_016510.5(SCLY) c.1209-193T>C,NM_016510.5(SCLY) c.1209-193T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 239006997 . C . . NT END=239009060;NT GT ./. 2 239007163 rs73098352 C A 73 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.*167C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:0:0:0:22:627:73.07:0.00:73.07:1.00:0.00:1.00:60:75.7:0:0:93:57:29:NR_037904.1(UBE2F-SCLY) n.2081C>A,NR_037904.1(UBE2F-SCLY) n.2081C>A:0.36,0.36:NOT_FOUND,NOT_FOUND 2 239007209 rs36131256 T C 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;PC=0.197;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.*213T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:0:0:0:13:381:44.28:0.00:44.28:1.00:0.00:1.00:60:105.6:0:0:115:35:22:NR_037904.1(UBE2F-SCLY) n.2127T>C,NR_037904.1(UBE2F-SCLY) n.2127T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 239007222 rs112131411 C A 21 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=71;PC=0.086;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.*226C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,C:9:0:0:0:7,2:201,62:21.35,0.00:0.00,0.00:21.35,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:118.6,131.5:0,0:0,0:124,94:27,56:16,13:NR_037904.1(UBE2F-SCLY) n.2140C>A,-:NOT_FOUND,-:NOT_FOUND,- 2 239007232 rs28576957 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=220;Gene=UBE2F-SCLY/NR_037904.1/0;VC=NonCoding;Gene=SCLY/NM_016510.5/1;CC=c.*236A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:7:0:0:0:2,5:69,142:0.00,14.74:0.00,0.00:0.00,14.74:0.00,0.98:0.00,0.00:0.00,0.98:60,60:131.5,122.4:0,0:0,0:104,121:46,30:13,5:-,NR_037904.1(UBE2F-SCLY) n.2150A>G:-,NOT_FOUND:-,NOT_FOUND 2 239008736 rs11283692 A AGAGGCGG 17 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=261;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:AGAGGCGG:5:5:5:0:5:143:16.68:16.68:0.00:1.00:1.00:0.00:60:14.8:0:0:37:114:17:NM_194312.2(ESPNL) c.-110-u215_-110-u214insGAGGCGG,NM_194312.2(ESPNL) c.-110-u215_-110-u214insGAGGCGG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 239009336 rs61744770 G A 445 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=119;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.276G>A;ProtCh=p.E92=;VC=Silent;DM=ESPNL/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:119:68:0:0:119:3883:444.90:175.34:269.55:1.00:1.00:1.00:60:59.4:0:0:77:65:37:NM_194312.2(ESPNL) c.276G>A (p.(=)),NM_194312.2(ESPNL) c.276G>A (p.(=)):0.26,0.26:0.25493,0.25493 2 239009355 . G . . NT END=239010581;NT GT ./. 2 239009384 rs62196013 C T 295 nt VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.294+30C>T;VC=Intron;DM=ESPNL/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:81:31:0:0:81:2563:294.72:74.42:220.30:1.00:1.00:1.00:60:66.4:0:0:94:57:27:NM_194312.2(ESPNL) c.294+30C>T,NM_194312.2(ESPNL) c.294+30C>T:0.26,0.26:0.263405,0.263405 2 239010455 rs59104605 GGAA G 38 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=145;Gene=ESPNL/NM_194312.3/1;CC=c.295-125_295-123delAAG;VC=Intron;DM=ESPNL/Ank_2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:GGAA,G:12:11:0:11:1,11:36,347:0.00,38.45:0.00,34.61:0.00,3.84:0.00,1.00:0.00,1.00:0.00,0.94:60,60:0.0,20.6:0,0:0,0:142,43:2,108:0,29:-,NM_194312.2(ESPNL) c.295-126_295-124delGAA:-,0.4:-,NOT_FOUND 2 239010577 rs1562333 G C 212 nt VT=SNV;PN=T;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.295-5G>C;VC=Intron;DM=ESPNL/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:C:56:54:0:0:56:1849:211.59:176.76:34.83:1.00:1.00:1.00:60:41.7:0:0:44:101:28:NM_194312.2(ESPNL) c.295-5G>C,NM_194312.2(ESPNL) c.295-5G>C:0.26,0.26:0.310796,0.310796 2 239010719 rs36066915 T C 344 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.432T>C;ProtCh=p.A144=;VC=Silent;DM=ESPNL/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:64:0:0:96:2983:343.93:157.52:186.41:1.00:1.00:1.00:60:41.9:0:0:83:62:37:NM_194312.2(ESPNL) c.432T>C (p.(=)),NM_194312.2(ESPNL) c.432T>C (p.(=)):0.62,0.62:0.641328,0.641328 2 239010773 . G . . NT END=239013296;NT GT ./. 2 239013484 . G . . NT END=239016431;NT GT ./. 2 239013662 rs7565244 A G 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.672+179A>G;VC=Intron;DM=ESPNL/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:333:38.53:0.00:38.53:1.00:0.00:1.00:60:38.0:0:0:75:76:26:NM_194312.2(ESPNL) c.672+179A>G,NM_194312.2(ESPNL) c.672+179A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 2 239016539 rs935415 C G 287 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=0.940;Gene=ESPNL/NM_194312.3/1;CC=c.780C>G;ProtCh=p.L260=;VC=Silent;DM=ESPNL/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:75:55:0:0:75:2516:287.30:141.38:145.92:1.00:1.00:1.00:60:41.3:0:0:88:62:40:NM_194312.2(ESPNL) c.780C>G (p.(=)),NM_194312.2(ESPNL) c.780C>G (p.(=)):0.74,0.74:0.73319,0.73319 2 239016615 . G . . NT END=239025543;NT GT ./. 2 239025523 rs11903074 T C 421 nt VT=SNV;PN=A;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.856-21T>C;VC=Intron;DM=ESPNL/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:114:99:0:0:114:3670:421.22:295.67:125.55:1.00:1.00:1.00:60:40.5:0:0:61:77:31:NM_194312.2(ESPNL) c.856-21T>C,NM_194312.2(ESPNL) c.856-21T>C:0.8,0.8:0.851746,0.851746 2 239025676 . G . . NT END=239033910;NT GT ./. 2 239034026 . G . . NT END=239036030;NT GT ./. 2 239034043 rs10170048 A C 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ESPNL/NM_194312.3/1;CC=c.1102+18A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:35:10:0:0:17,18:519,529:0.00,50.91:0.00,8.08:0.00,42.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,35.0:0,0:0,0:113,94:38,46:28,39:-,NM_194312.2(ESPNL) c.1102+18A>C:-,0.59:-,0.554443 2 239035853 rs12479385 C T 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.1103-410C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:17:0:0:8,9:261,226:0.00,21.75:0.00,21.75:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.0,73.2:0,0:0,0:55,14:96,137:17,10:-,NM_194312.2(ESPNL) c.1103-410C>T:-,0.59:-,NOT_FOUND 2 239035937 rs12471185 G A 81 nt VT=SNV;PN=G;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ESPNL/NM_194312.3/1;CC=c.1103-326G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:46:0:0:26,21:822,666:80.56,0.00:71.52,0.00:9.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.8,11.6:0,0:0,0:55,39:96,105:32,20:NM_194312.2(ESPNL) c.1103-326G>A,-:0.59,-:NOT_FOUND,- 2 239036170 . G . . NT END=239036262;NT GT ./. 2 239036376 . G . . NT END=239037347;NT GT ./. 2 239036416 rs12692214 T C 138 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ESPNL/NM_194312.3/1;CC=c.1215+41T>C;VC=Intron;Gene=ESPNL/NM_001308370.1/0;CC=c.111+41T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C,G:38:11:0:0:37,1:1210,12:138.16,0.33:22.40,0.00:115.76,0.33:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.3,72.0:1,0:0,0:100,59:51,91:27,0:NM_194312.2(ESPNL) c.1215+41T>C,NM_194312.2(ESPNL) c.1215+41T>C:0.84,0.84:0.860186,0.860186 2 239036423 rs62197371 C A 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.1215+48C>A;VC=Intron;Gene=ESPNL/NM_001308370.1/0;CC=c.111+48C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:10:0:0:15,22:365,690:32.75,0.00:6.90,0.00:25.85,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:71.5,47.8:0,0:0,0:121,86:29,65:11,21:NM_194312.2(ESPNL) c.1215+48C>A,-:0.25,-:0.288387,- 2 239037546 . G . . NT END=239037588;NT GT ./. 2 239037883 . G . . NT END=239038768;NT GT ./. 2 239038917 rs144338731 G A 247 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=10;PC=0.031;Gene=ESPNL/NM_194312.3/1;CC=c.1562G>A;ProtCh=p.R521H;VC=Missense;Gene=ESPNL/NM_001308370.1/0;CC=c.458G>A;ProtCh=p.R153H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:159:102:0:0:79,1,79:2569,12,2615:247.03,-0.11,0.00:129.65,0.02,0.00:117.38,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,176.0,9.9:0,0,0:0,0,0:74,19,62:66,128,83:31,0,35:NM_194312.2(ESPNL) c.1562G>A (p.Arg521His),-:0.0014,-:0.001694,- 2 239039057 rs13033248 A G 177 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.1702A>G;ProtCh=p.I568V;VC=Missense;Gene=ESPNL/NM_001308370.1/0;CC=c.598A>G;ProtCh=p.I200V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:126:78:0:0:69,57:2171,1872:0.00,176.63:0.00,85.16:0.00,91.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.4,72.9:0,0:0,0:67,80:80,66:33,37:-,NM_194312.2(ESPNL) c.1702A>G (p.Ile568Val):-,0.39:-,0.382828 2 239039075 rs13006204 G T 155 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.1720G>T;ProtCh=p.A574S;VC=Missense;Gene=ESPNL/NM_001308370.1/0;CC=c.616G>T;ProtCh=p.A206S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:115:70:0:0:1,64,50:33,2056,1655:1.49,0.00,155.45:0.78,0.00,70.72:0.71,0.00,84.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:38.0,10.5,71.1:0,0,0:0,0,0:42,71,90:109,79,59:0,40,29:-,NM_194312.2(ESPNL) c.1720G>T (p.Ala574Ser):-,0.39:-,0.379219 2 239039637 rs4663845 T C 190 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.2282T>C;ProtCh=p.V761A;VC=Missense;Gene=ESPNL/NM_001308370.1/0;CC=c.1178T>C;ProtCh=p.V393A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:145:103:0:0:65,80:2024,2463:189.95,0.00:106.42,0.00:83.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,11.2:0,0:0,0:85,80:66,66:37,36:NM_194312.2(ESPNL) c.2282T>C (p.Val761Ala),-:0.84,-:0.853919,- 2 239039841 rs10172220 A G 215 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=NA;PC=0.199;Gene=ESPNL/NM_194312.3/1;CC=c.2486A>G;ProtCh=p.Q829R;VC=Missense;Gene=ESPNL/NM_001308370.1/0;CC=c.1382A>G;ProtCh=p.Q461R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:162:121:0:0:88,74:2904,2285:0.00,215.17:0.00,100.35:0.00,114.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,58.0:0,0:0,0:56,57:88,88:28,36:-,NM_194312.2(ESPNL) c.2486A>G (p.Gln829Arg):-,0.51:-,0.44286 2 239039896 rs10182906 G C 239 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=NA;Gene=ESPNL/NM_194312.3/1;CC=c.2541G>C;ProtCh=p.P847=;VC=Silent;Gene=ESPNL/NM_001308370.1/0;CC=c.1437G>C;ProtCh=p.P479=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:171:124:0:0:81,90:2519,2745:239.14,0.00:126.76,0.00:112.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.3,10.6:0,0:0,0:69,79:80,71:25,33:NM_194312.2(ESPNL) c.2541G>C (p.(=)),-:0.84,-:0.817977,- 2 239040187 rs12692215 T C 200 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=149;DB;DBA=NA;PAF=NA;PC=0.581;Gene=ESPNL/NM_194312.3/1;CC=c.2832T>C;ProtCh=p.G944=;VC=Silent;Gene=ESPNL/NM_001308370.1/0;CC=c.1728T>C;ProtCh=p.G576=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:149:100:0:0:64,1,84:2131,10,2620:199.66,-0.18,0.00:109.29,-0.13,0.00:90.37,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.0,43.0,9.2:0,0,0:0,0,0:74,83,63:76,68,80:39,0,33:NM_194312.2(ESPNL) c.2832T>C (p.(=)),-:0.85,-:0.816338,- 2 239040374 . C . . NT END=239049395;NT GT ./. 2 239049540 rs2241985 G A 306 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=203;DB;DBA=NA;PAF=NA;PC=0.322;Gene=KLHL30/NM_198582.3/1;CC=c.145G>A;ProtCh=p.G49S;VC=Missense;DM=KLHL30/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:203:154:0:0:96,1,106:3213,15,3215:306.47,-0.07,0.00:187.65,0.03,0.00:118.82,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.7,89.0,7.3:0,0,0:0,0,0:64,148,65:84,3,82:36,0,36:NM_198582.3(KLHL30) c.145G>A (p.Gly49Ser),-:0.39,-:0.387577,- 2 239050033 rs12692216 C T 324 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=212;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.638C>T;ProtCh=p.A213V;VC=Missense;DM=KLHL30/BACK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:212:132:0:0:104,108:3491,3365:0.00,324.09:0.00,147.59:0.00,176.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,38.5:0,0:0,0:92,67:54,76:30,31:-,NM_198582.3(KLHL30) c.638C>T (p.Ala213Val):-,0.72:-,0.672595 2 239050170 . G . . NT END=239051439;NT GT ./. 2 239050356 rs4144851 C G 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.774+187C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:21:0:0:0:1,7,13:10,214,405:0.20,0.00,41.05:0.00,0.00,0.00:0.20,0.00,41.05:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:85.0,6.3,67.3:0,0,0:0,0,0:26,106,96:104,45,54:0,18,25:-,NM_198582.3(KLHL30) c.774+187C>G:-,0.85:-,NOT_FOUND 2 239051550 rs935411 T C 163 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KLHL30/NM_198582.3/1;CC=c.885T>C;ProtCh=p.F295=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:110:64:0:0:53,57:1704,1827:162.63,0.00:56.30,0.00:106.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.1,4.9:0,0:0,0:100,79:50,57:28,34:NM_198582.3(KLHL30) c.885T>C (p.(=)),-:0.91,-:0.916814,- 2 239051573 . G . . NT END=239053542;NT GT ./. 2 239053436 rs12623661 G C 48 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.908-107G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:26:26:0:0:15,11:486,332:48.05,0.00:46.33,0.00:1.72,0.00:1.00,0.00:1.00,0.00:0.72,0.00:60,60:41.6,8.6:0,1:0,0:42,46:107,105:20,20:NM_198582.3(KLHL30) c.908-107G>C,-:0.65,-:NOT_FOUND,- 2 239053630 . G . . NT END=239054302;NT GT ./. 2 239053685 rs13013945 A C 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.994+56A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:40:14:0:0:15,25:443,714:0.00,71.74:0.00,23.59:0.00,48.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,41.0:0,0:0,0:77,123:74,28:24,21:-,NM_198582.3(KLHL30) c.994+56A>C:-,0.46:-,0.498905 2 239054474 . G . . NT END=239056474;NT GT ./. 2 239054504 rs11674140 G T 97 nt VT=SNV;PN=G;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.1150+31G>T;VC=Intron;DM=KLHL30/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:54:19:0:0:23,31:740,980:0.00,96.76:0.00,24.55:0.00,72.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,43.3:0,0:0,0:94,103:57,48:21,25:-,NM_198582.3(KLHL30) c.1150+31G>T:-,0.73:-,0.732114 2 239054724 rs10192297 C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.1150+251C>T;VC=Intron;DM=KLHL30/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:5:0:0:0:1,4:32,136:0.00,14.42:0.00,0.00:0.00,14.42:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,64.0:0,0:0,0:60,108:91,42:0,19:-,NM_198582.3(KLHL30) c.1150+251C>T:-,0.73:-,NOT_FOUND 2 239056664 . G . . NT END=239057647;NT GT ./. 2 239056746 rs11674655 T G 45 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.1339+83T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:35:3:0:0:1,15,19:13,477,617:0.18,44.72,0.00:-0.02,-0.36,0.00:0.19,45.08,0.00:0.00,1.00,0.00:0.00,0.83,0.00:0.00,1.00,0.00:60,60,60:27.0,34.0,8.6:0,0,0:0,0,0:43,115,102:108,36,49:0,21,32:NM_198582.3(KLHL30) c.1339+83T>G,-:0.43,-:NOT_FOUND,- 2 239057794 . G . . NT END=239059454;NT GT ./. 2 239059195 rs35985177 C A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.1486-260C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,C:10:10:0:0:6,4:196,108:19.56,0.00:19.56,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:48.5,49.2:0,0:0,0:27,27:123,124:25,3:NM_198582.3(KLHL30) c.1486-260C>A,-:0.25,-:NOT_FOUND,- 2 239059484 rs7605194 T C 237 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=NA;PC=0.396;Gene=KLHL30/NM_198582.3/1;CC=c.1515T>C;ProtCh=p.N505=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:156:125:0:0:76,80:2479,2493:237.21,0.00:131.51,0.00:105.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,4.1:0,0:0,0:68,60:77,84:32,26:NM_198582.3(KLHL30) c.1515T>C (p.(=)),-:0.83,-:0.800404,- 2 239059707 . A . . NT END=239060578;NT GT ./. 2 239059902 rs7588480 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=KLHL30/NM_198582.3/1;CC=c.*196T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:16:0:0:0:7,9:187,265:17.29,0.00:0.00,0.00:17.29,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:65.0,12.0:0,0:0,0:88,75:62,75:20,48:NM_198582.3(KLHL30) c.*196T>C,-:0.83,-:NOT_FOUND,- 2 239060820 . G . . NT END=239063303;NT GT ./. 2 239063444 . G . . NT END=239070234;NT GT ./. 2 239070051 rs12988979 G A 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.009;Gene=FAM132B/NM_001291832.1/1;CC=c.199-184G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,G:21:21:0:0:16,5:489,153:51.45,0.00:51.45,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:51.9,30.0:0,0:0,0:39,32:111,118:18,31:XM_001714385.3(FAM132B) c.176G>A (p.Arg59Gln),-:0.22,-:NOT_FOUND,- 2 239070358 . G . . NT END=239071376;NT GT ./. 2 239071480 . G . . NT END=239072377;NT GT ./. 2 239071623 rs7564476 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=FAM132B/NM_001291832.1/1;CC=c.424+144A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,G:12:0:0:0:7,5:242,165:0.00,15.35:0.00,0.00:0.00,15.35:0.00,0.92:0.00,0.00:0.00,0.92:60,60:6.6,35.8:0,0:0,0:103,116:48,35:36,5:-,XM_001714385.3(FAM132B) c.463+144A>G:-,0.77:-,NOT_FOUND 2 239072641 . G . . NT END=239072715;NT GT ./. 2 239072825 . G . . NT END=239072910;NT GT ./. 2 239073002 . G . . NT END=239074246;NT GT ./. 2 239073046 rs6760421 C T 119 nt VT=SNV;PN=C;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;Gene=FAM132B/NM_001291832.1/1;CC=c.887+45C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:70:22:0:0:32,38:1095,1216:0.00,118.76:0.00,25.78:0.00,92.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,45.6:0,0:0,0:106,109:43,42:17,31:-,XM_001714385.3(FAM132B) c.926+45C>T:-,0.25:-,NOT_FOUND 2 239074326 . G . . NT END=239075596;NT GT ./. 2 239075696 . G . . NT END=239079176;NT GT ./. 2 239075812 rs3795905 C T 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=FAM132B/NM_001291832.1/1;CC=c.*117C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:0:0:0:9,8:267,247:0.00,23.39:0.00,0.00:0.00,23.39:0.00,0.99:0.00,0.00:0.00,0.99:60,60:6.4,52.8:0,0:0,0:114,123:37,28:31,19:-,XM_003846222.1(LOC100996584) c.64C>T (p.Pro22Ser):-,0.26:-,NOT_FOUND 2 239079318 . C . . NT END=239079583;NT GT ./. 2 239079666 . C . . NT END=239082174;NT GT ./. 2 239081996 rs11309913 TC T 25 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=934;Gene=ILKAP/NM_030768.2/1;CC=c.956+178delG;VC=Intron;DM=ILKAP/PP2C;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:18:18:0:9:9,9:220,257:0.00,24.59:0.00,24.59:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:18.3,25.6:0,0:0,0:55,65:95,86:14,52:-,NM_030768.2(ILKAP) c.956+178delG:-,0.77:-,NOT_FOUND 2 239082040 rs7585597 T C 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=ILKAP/NM_030768.2/1;CC=c.956+135A>G;VC=Intron;DM=ILKAP/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:22:0:0:9,14:313,445:28.91,0.00:23.65,0.00:5.25,0.00:1.00,0.00:1.00,0.00:0.69,0.00:60,60:36.9,8.9:0,0:0,0:48,43:102,107:34,34:NM_030768.2(ILKAP) c.956+135A>G,-:0.8,-:NOT_FOUND,- 2 239082166 rs74572041 G GC 107 nt VT=INS;SST=Single;DP=98;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3321;PC=0.001;Gene=ILKAP/NM_030768.2/1;CC=c.956+8dupG;VC=Intron;DM=ILKAP/PP2C;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GC:98:79:38:0:60,38:1949,1168:0.00,106.54:0.00,66.28:0.00,40.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,6.5:1,0:0,0:50,58:95,87:33,42:-,NM_030768.2(ILKAP) c.956+8_956+9insG:-,0.87:-,0.816534 2 239082295 . C . . NT END=239090705;NT GT ./. 2 239090828 . C . . NT END=239092293;NT GT ./. 2 239092382 . C . . NT END=239092660;NT GT ./. 2 239092474 rs2305173 C T 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=ILKAP/NM_030768.2/1;CC=c.627-93G>A;VC=Intron;DM=ILKAP/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:7:0:0:19,16:654,500:0.00,47.15:0.00,3.28:0.00,43.87:0.00,1.00:0.00,0.98:0.00,1.00:60,60:2.6,36.5:0,0:0,0:115,107:36,44:25,26:-,NM_030768.2(ILKAP) c.627-93G>A:-,0.33:-,NOT_FOUND 2 239092755 . C . . NT END=239093821;NT GT ./. 2 239093788 rs6431588 T C 66 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=ILKAP/NM_030768.2/1;CC=c.532+34A>G;VC=Intron;DM=ILKAP/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:26:0:0:19,9:643,272:65.76,0.00:58.75,0.00:7.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,35.6:0,0:0,0:59,67:92,84:22,30:NM_030768.2(ILKAP) c.532+34A>G,-:0.89,-:0.844024,- 2 239093929 . C . . NT END=239096771;NT GT ./. 2 239096899 . C . . NT END=239098493;NT GT ./. 2 239098614 . C . . NT END=239102915;NT GT ./. 2 239098871 rs57094190 C A 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ILKAP/NM_030768.2/1;CC=c.179-258G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,C:6:0:0:0:3,3:86,83:8.23,0.00:0.00,0.00:8.23,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:66.7,36.3:0,0:0,0:108,98:40,53:33,6:NM_030768.2(ILKAP) c.179-258G>T,-:0.25,-:NOT_FOUND,- 2 239102856 rs3795903 A G 48 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=ILKAP/NM_030768.2/1;CC=c.178+60T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:22:0:0:10,16:315,484:0.00,48.39:0.00,36.84:0.00,11.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.1,33.6:0,0:0,0:43,34:107,117:21,18:-,NM_030768.2(ILKAP) c.178+60T>C:-,0.26:-,0.284056 2 239102973 . C . . NT END=239103422;NT GT ./. 2 239103512 . C . . NT END=239112139;NT GT ./. 2 239103574 rs35393292 G A 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ILKAP/NM_030768.2/1;CC=c.56-63C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:7:0:0:17,15:584,467:56.91,0.00:6.43,0.00:50.48,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:70.9,1.5:0,0:0,0:88,95:63,56:32,29:NM_030768.2(ILKAP) c.56-63C>T,-:0.23,-:0.260184,- 2 239103603 rs7558210 C G 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=ILKAP/NM_030768.2/1;CC=c.56-92G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:24:2:0:0:11,13:356,439:0.00,42.92:0.00,1.69:0.00,41.23:0.00,1.00:0.00,0.82:0.00,1.00:60,60:1.1,79.9:0,0:0,0:95,92:53,59:15,19:-,NM_030768.2(ILKAP) c.56-92G>C:-,0.25:-,NOT_FOUND 2 239112195 . G . . NT END=239147467;NT GT ./. 2 239112344 rs113428548 G A 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:A,G:13:0:0:0:7,6:196,172:19.05,0.00:0.00,0.00:19.05,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:31.9,8.3:0,0:0,0:112,90:31,61:15,18:NM_030768.2(ILKAP) c.-130-u20C>T,-:0.26,-:NOT_FOUND,- 2 239140403 rs35825433 T C 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:19:0:0:9,10:310,258:29.61,0.00:29.61,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:66.9,7.0:0,0:0,0:14,56:137,94:12,43:NR_026923.1(LOC643387) n.77T>C,-:0.2,-:NOT_FOUND,- 2 239140426 rs372820890 A AC 40 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=42;Gene=LOC643387/NR_026923.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AC:23:23:13:0:10,13:293,408:0.00,40.18:0.00,40.18:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.0,61.0:0,0:0,0:42,34:108,117:19,13:-,NR_026923.1(LOC643387) n.100_101insC:-,NOT_FOUND:-,NOT_FOUND 2 239140434 rs111384196 C A 49 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:26:0:0:16,10:492,327:49.29,0.00:46.28,0.00:3.01,0.00:1.00,0.00:1.00,0.00:0.95,0.00:70,60:57.2,7.0:0,0:0,0:33,50:111,100:22,19:NR_026923.1(LOC643387) n.108C>A,-:0.2,-:NOT_FOUND,- 2 239140728 rs11689033 A G 132 nt VT=SNV;PN=G;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=0.968;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:37:0:0:34,43:1089,1346:0.00,132.07:0.00,36.44:0.00,95.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.6,38.4:0,0:0,0:101,97:49,53:37,35:-,NR_026923.1(LOC643387) n.402A>G:-,0.21:-,NOT_FOUND 2 239141221 rs11694487 G C 103 nt VT=SNV;PN=G;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:81:62:0:0:36,45:1104,1396:103.25,0.00:65.33,0.00:37.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,7.6:0,0:0,0:84,81:66,68:25,35:NR_026923.1(LOC643387) n.895G>C,-:0.23,-:NOT_FOUND,- 2 239141505 rs11689432 A G 490 nt VT=SNV;PN=A;NN=C;SST=Single;DP=130;DB;DBA=NA;PAF=NA;PC=0.735;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:130:101:0:0:1,129:11,4311:0.00,490.46:0.00,314.00:0.00,176.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:167.0,38.6:0,0:0,0:120,60:31,87:0,34:NR_026923.1(LOC643387) n.1179A>G,NR_026923.1(LOC643387) n.1179A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 2 239141724 rs11695827 G A 114 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:30:0:0:36,34:1174,1124:113.51,0.00:38.46,0.00:75.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,8.6:0,0:0,0:76,70:73,79:35,43:NR_026923.1(LOC643387) n.1398G>A,-:0.21,-:NOT_FOUND,- 2 239142088 rs11692007 T C 66 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=0.841;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:33:0:0:24,26:693,816:65.56,0.00:43.18,0.00:22.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.9,8.0:0,0:0,0:74,91:76,58:40,27:NR_026923.1(LOC643387) n.1762T>C,-:0.21,-:NOT_FOUND,- 2 239142179 rs11696058 G A 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:19:0:0:22,22:715,735:68.75,0.00:24.72,0.00:44.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.5,3.3:0,0:0,0:90,74:61,73:29,25:NR_026923.1(LOC643387) n.1853G>A,-:0.21,-:NOT_FOUND,- 2 239142280 rs55808641 C A 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LOC643387/NR_026923.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:0:0:0:14,9:430,279:42.95,0.00:0.00,0.00:42.95,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:63.5,0.0:0,0:0,0:111,109:39,42:23,31:NR_026923.1(LOC643387) n.1954C>A,-:0.21,-:NOT_FOUND,- 2 239147893 . C . . NT END=239148127;NT GT ./. 2 239148210 . C . . NT END=239148301;NT GT ./. 2 239148389 . C . . NT END=239148465;NT GT ./. 2 239148547 . G . . NT END=239155015;NT GT ./. 2 239148593 rs1047608 G C 172 nt VT=SNV;PN=G;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=NA;PC=0.108;Gene=HES6/NM_001142853.2/0;CC=c.-47C>G;VC=5UTR;Gene=HES6/NM_001282434.1/1;CC=c.-47C>G;VC=5UTR;Gene=HES6/NM_018645.5/0;CC=c.-47C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:123:49:0:0:61,61,1:1795,1890,10:171.63,0.00,-0.13:43.29,0.00,-0.06:128.34,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.3,12.9,117.0:0,0,0:0,0,0:114,94,76:37,42,73:21,31,0:NM_018645.4(HES6) c.-47C>G,-:0.1,-:NOT_FOUND,- 2 239155053 rs934945 C T 78 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.003;Gene=PER2/NM_022817.2/1;CC=c.3731G>A;ProtCh=p.G1244E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:57:43:0:0:28,29:929,815:0.00,78.02:0.00,40.74:0.00,37.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,48.8:0,0:0,0:74,60:68,88:22,32:-,NM_022817.2(PER2) c.3731G>A (p.Gly1244Glu):-,0.19:-,0.140551 2 239155166 . C . . NT END=239157702;NT GT ./. 2 239157854 . C . . NT END=239159191;NT GT ./. 2 239159385 . C . . NT END=239160239;NT GT ./. 2 239159964 rs4663867 G C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.008;Gene=PER2/NM_022817.2/1;CC=c.3274+276C>G;VC=Intron;DM=PER2/Period_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:172:19.58:19.58:0.00:1.00:1.00:0.00:60:34.4:0:0:23:128:15:NM_022817.2(PER2) c.3274+276C>G,NM_022817.2(PER2) c.3274+276C>G:0.08,0.08:NOT_FOUND,NOT_FOUND 2 239160403 . C . . NT END=239161552;NT GT ./. 2 239162344 . C . . NT END=239164297;NT GT ./. 2 239164553 . C . . NT END=239165562;NT GT ./. 2 239165636 rs2304670 C T 150 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;PC=0.495;Gene=PER2/NM_022817.2/1;CC=c.1992G>A;ProtCh=p.A664=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:96:67:0:0:48,48:1570,1558:0.00,149.77:0.00,66.45:0.00,83.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,42.9:0,0:0,0:90,65:52,81:33,42:-,NM_022817.2(PER2) c.1992G>A (p.(=)):-,0.08:-,0.094495 2 239165728 . C . . NT END=239166916;NT GT ./. 2 239165909 rs10198215 A G 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PER2/NM_022817.2/1;CC=c.1901-182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,G:21:0:0:0:7,14:186,472:0.00,48.13:0.00,0.00:0.00,48.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:33.3,37.0:0,0:0,0:92,113:57,38:35,31:-,NM_022817.2(PER2) c.1901-182T>C:-,0.43:-,NOT_FOUND 2 239167042 . C . . NT END=239167137;NT GT ./. 2 239167286 . C . . NT END=239168609;NT GT ./. 2 239168695 . C . . NT END=239169468;NT GT ./. 2 239169595 . C . . NT END=239170369;NT GT ./. 2 239170479 . C . . NT END=239170831;NT GT ./. 2 239170986 . C . . NT END=239171592;NT GT ./. 2 239171700 . C . . NT END=239174152;NT GT ./. 2 239174232 . C . . NT END=239176696;NT GT ./. 2 239176840 . C . . NT END=239177563;NT GT ./. 2 239177616 . C . . NT END=239179952;NT GT ./. 2 239180155 . C . . NT END=239181710;NT GT ./. 2 239180200 rs71426511 G A 42 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=PER2/NM_022817.2/1;CC=c.571-46C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:14:0:0:14,25:461,763:41.72,0.00:9.24,0.00:32.48,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:41.7,15.6:0,0:0,0:120,89:30,62:21,35:NM_022817.2(PER2) c.571-46C>T,-:0.08,-:0.088651,- 2 239181491 rs4663300 T C 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=PER2/NM_022817.2/1;CC=c.570+220A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,G,T:9:9:0:0:3,1,5:99,10,147:9.02,0.33,0.00:9.02,0.33,0.00:0.00,0.00,0.00:0.96,0.00,0.00:0.96,0.00,0.00:0.00,0.00,0.00:60,60,60:33.0,40.0,0.0:0,0,0:0,0,0:34,30,82:117,120,69:26,0,58:NM_022817.2(PER2) c.570+220A>G,-:0.08,-:NOT_FOUND,- 2 239181833 . C . . NT END=239184383;NT GT ./. 2 239181851 rs3217472 T TCA 87 nt VT=INS;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=322;Gene=PER2/NM_022817.2/1;CC=c.449-21_449-20dupTG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TCA:70:35:30:0:40,30:1244,932:0.00,86.76:0.00,17.56:0.00,69.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,61.8:0,0:0,0:91,77:54,70:47,28:-,NM_022817.2(PER2) c.449-20_449-19insTG:-,0.08:-,0.089058 2 239181860 rs13033501 G A 90 nt VT=SNV;PN=T;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=PER2/NM_022817.2/1;CC=c.449-28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:27:0:0:30,30:939,983:90.08,0.00:15.40,0.00:74.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.6,4.4:0,0:0,0:81,93:65,55:27,35:NM_022817.2(PER2) c.449-28C>T,-:0.08,-:0.087959,- 2 239181904 rs2304674 A G 76 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=PER2/NM_022817.2/1;CC=c.449-72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:15:0:0:26,25:809,798:0.00,76.35:0.00,4.59:0.00,71.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,73.0:0,0:0,0:97,97:54,46:18,31:-,NM_022817.2(PER2) c.449-72T>C:-,0.35:-,NOT_FOUND 2 239184124 rs3739066 G T 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.917;Gene=PER2/NM_022817.2/1;CC=c.448+260C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:G,T:10:10:0:0:5,5:166,162:0.00,15.57:0.00,15.57:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:0.0,49.0:0,0:0,0:36,93:115,58:36,29:-,NM_022817.2(PER2) c.448+260C>A:-,0.08:-,NOT_FOUND 2 239184203 rs3739067 G A 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.047;Gene=PER2/NM_022817.2/1;CC=c.448+181C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:11,16:370,463:34.33,0.00:34.33,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:54.2,14.3:0,0:0,0:51,38:98,112:25,21:NM_022817.2(PER2) c.448+181C>T,-:0.06,-:NOT_FOUND,- 2 239184539 . C . . NT END=239185771;NT GT ./. 2 239185835 . C . . NT END=239186347;NT GT ./. 2 239186589 rs2304672 G C 234 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=155;DB;DBA=NA;PAF=NA;Gene=PER2/NM_022817.2/1;CC=c.-12C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:155:95:0:0:74,80,1:2451,2496,32:234.05,0.00,1.26:101.07,0.00,0.66:132.98,0.00,0.60:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.0,14.4,32.0:0,0,0:0,0,0:77,71,25:67,62,126:39,39,0:NM_022817.2(PER2) c.-12C>G,-:0.08,-:0.08942,- 2 239186597 . C . . NT END=239229303;NT GT ./. 2 239186719 rs536396277 T TTCTCTCTG 23 nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.012;Gene=PER2/NM_022817.2/1;CC=c.-19-131_-19-124dupCAGAGAGA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTCTCTCTG:49:8:9:0:40,9:1285,289:0.00,23.05:0.00,-0.48:0.00,23.53:0.00,0.98:0.00,0.76:0.00,1.00:60,60:29.4,7.1:0,0:0,0:129,65:22,86:15,32:-,NM_022817.2(PER2) c.-19-124_-19-123insCAGAGAGA:-,NOT_FOUND:-,NOT_FOUND 2 239186735 rs79339517 C G 12 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=55;PC=0.011;Gene=PER2/NM_022817.2/1;CC=c.-19-139G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G:35:3:0:0:30,5:1036,161:0.00,12.25:0.00,3.00:0.00,9.25:0.00,0.78:0.00,0.42:0.00,0.97:60,60:16.6,51.4:0,0:0,0:111,143:40,8:26,3:-,NM_022817.2(PER2) c.-19-139G>C:-,NOT_FOUND:-,NOT_FOUND 2 239186745 rs73088949 T C 7 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PER2/NM_022817.2/1;CC=c.-19-149A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:31:2:0:0:3,28:96,885:6.75,0.00:-0.07,0.00:6.82,0.00:0.42,0.00:0.32,0.00:0.88,0.00:60,60:57.3,10.8:0,0:0,0:150,100:1,51:0,37:NM_022817.2(PER2) c.-19-149A>G,-:0.06,-:NOT_FOUND,- 2 239212463 rs58075683 G GGTGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:G,T,GGTGT:4:2:2:0:1,1,2:32,19,66:0.00,1.65,6.65:0.00,1.65,-0.30:0.00,0.00,6.95:0.00,0.00,0.51:0.00,0.00,0.79:0.00,0.00,0.79:18,60,60:118.0,19.0,11.5:0,0,0:0,0,0:18,18,59:112,133,80:0,0,29:-,chr2 g.239212463_239212464insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 239229029 rs113517613 C A 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:26:0:0:8,18:250,580:21.85,0.00:21.85,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:47.6,18.7:0,0:0,0:36,54:110,97:27,34:NM_015650.3(TRAF3IP1) c.-119-u156C>A,-:0.16,-:NOT_FOUND,- 2 239229372 rs13398676 C A 808 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=216;DB;DBA=NA;PAF=NA;PC=0.320;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.69C>A;ProtCh=p.T23=;VC=Silent;Gene=TRAF3IP1/NM_015650.3/1;CC=c.69C>A;ProtCh=p.T23=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:216:124:0:0:215,1:7080,9:808.37,0.00:331.29,0.00:477.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,0.0:0,0:0,0:78,124:66,26:35,0:NM_015650.3(TRAF3IP1) c.69C>A (p.(=)),NM_015650.3(TRAF3IP1) c.69C>A (p.(=)):0.69,0.69:0.760632,0.760632 2 239229427 . G . . NT END=239233946;NT GT ./. 2 239233732 rs4663304 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.124-215T>C;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.124-215T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:156:17.98:17.98:0.00:1.00:1.00:0.00:60:56.8:0:0:90:59:28:NM_015650.3(TRAF3IP1) c.124-215T>C,NM_015650.3(TRAF3IP1) c.124-215T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 2 239234016 . G . . NT END=239234449;NT GT ./. 2 239234612 . G . . NT END=239237326;NT GT ./. 2 239237471 . G . . NT END=239237566;NT GT ./. 2 239237953 rs12464423 G T 253 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=172;DB;DBA=NA;PAF=NA;PC=0.956;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.885G>T;ProtCh=p.K295N;VC=Missense;Gene=TRAF3IP1/NM_015650.3/1;CC=c.885G>T;ProtCh=p.K295N;VC=Missense;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:172:77:0:0:87,85:2955,2643:0.00,252.99:0.00,84.56:0.00,168.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,38.5:0,0:0,0:96,83:51,62:29,36:-,NM_015650.3(TRAF3IP1) c.885G>T (p.Lys295Asn):-,0.24:-,0.234315 2 239237984 . G . . NT END=239241464;NT GT ./. 2 239241445 . AT A 16 rn VT=DEL;SST=Single;DP=33;NP=59;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.916-6delT;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.916-6delT;VC=Intron;DM=TRAF3IP1/MIP-T3;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:AT,G,I,A:33:25:1:6:25,1,1,6:787,10,34,199:0.00,-0.08,2.03,16.15:0.00,0.07,0.99,6.27:0.00,-0.15,1.03,9.88:0.00,0.00,0.00,0.89:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.96:60,60,60,60:5.6,98.0,0.0,4.5:0,0,0,0:0,0,0,0:72,99,71,77:78,52,80,73:37,0,0,12:-,NM_015650.3(TRAF3IP1) c.916-19delT:-,NOT_FOUND:-,NOT_FOUND 2 239241537 . G . . NT END=239242600;NT GT ./. 2 239242677 . G . . NT END=239247002;NT GT ./. 2 239242719 rs5839695 G GT 37 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=144;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1063+57dupT;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1063+57dupT;VC=Intron;DM=TRAF3IP1/MIP-T3;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:27:12:18:1:12,1,13,1:372,33,546,33:0.00,2.11,37.41,2.11:0.00,-0.05,4.87,2.22:0.00,2.16,32.54,-0.11:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:10.5,186.0,27.3,0.0:1,1,5,0:0,0,0,0:126,105,108,100:15,46,42,51:18,0,16,0:-,NM_015650.3(TRAF3IP1) c.1063+43_1063+44insT:-,NOT_FOUND:-,NOT_FOUND 2 239247099 . G . . NT END=239253137;NT GT ./. 2 239247174 rs73090911 A G 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1063+4498A>G;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1159+76A>G;VC=Intron;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:2:0:0:18,16:575,533:0.00,50.72:0.00,-0.41:0.00,51.14:0.00,1.00:0.00,0.77:0.00,1.00:60,60:10.3,37.1:0,0:0,0:126,109:23,41:20,26:-,NM_015650.3(TRAF3IP1) c.1159+76A>G:-,0.25:-,NOT_FOUND 2 239253007 rs6757489 T C 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1064-3089T>C;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1160-131T>C;VC=Intron;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:C,T:18:18:0:0:6,12:173,363:15.17,0.00:15.17,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:58.7,5.8:0,0:0,0:49,41:101,109:23,21:NM_015650.3(TRAF3IP1) c.1160-131T>C,-:0.24,-:NOT_FOUND,- 2 239253240 . G . . NT END=239256095;NT GT ./. 2 239255766 rs4663879 A G 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=668;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1064-330A>G;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1262-330A>G;VC=Intron;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:31.6:0:0:39:111:11:NM_015650.3(TRAF3IP1) c.1262-330A>G,NM_015650.3(TRAF3IP1) c.1262-330A>G:1,1:NOT_FOUND,NOT_FOUND 2 239256117 . G . . NT END=239257404;NT GT ./. 2 239257210 rs1344977 C T 10 end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1085-195C>T;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1283-195C>T;VC=Intron;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,95:0.00,9.95:0.00,9.95:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:12.0,45.7:0,0:0,0:44,5:106,146:0,1:-,NM_015650.3(TRAF3IP1) c.1283-195C>T:-,0.24:-,NOT_FOUND 2 239257490 . G . . NT END=239257965;NT GT ./. 2 239258050 . G . . NT END=239261467;NT GT ./. 2 239260475 . GGTGTGTGT G 9 nt VT=DEL;SST=Single;DP=8;NP=3;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1254-967_1254-960delTGTGTGTG;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1452-967_1452-960delTGTGTGTG;VC=Intron;DM=TRAF3IP1/MIP-T3;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:GGTGTGTGT,G:8:7:0:3:5,3:171,100:0.00,9.13:0.00,6.19:0.00,2.94:0.00,0.67:0.00,0.95:0.00,0.90:60,60:25.6,35.3:0,0:0,0:64,50:69,101:57,3:-,NM_015650.3(TRAF3IP1) c.1452-992_1452-985delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 239260507 rs6707512 T C 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1254-961T>C;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1452-961T>C;VC=Intron;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:7:0:0:9:313:35.59:16.16:19.43:1.00:1.00:1.00:60:42.7:0:0:74:55:22:NM_015650.3(TRAF3IP1) c.1452-961T>C,NM_015650.3(TRAF3IP1) c.1452-961T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 239261592 . G . . NT END=239261813;NT GT ./. 2 239261851 . G . . NT END=239264644;NT GT ./. 2 239261866 rs3213874 G A 73 nt VT=SNV;PN=C;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1414+16G>A;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1612+16G>A;VC=Intron;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:38:0:0:25,35:793,1175:73.49,0.00:26.98,0.00:46.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,1.4:0,0:0,0:90,77:57,73:24,27:NM_015650.3(TRAF3IP1) c.1612+16G>A,-:0.17,-:0.207981,- 2 239264722 . G . . NT END=239306099;NT GT ./. 2 239306321 . G . . NT END=239307394;NT GT ./. 2 239307245 rs571820 A G 67 nt VT=SNV;PN=T;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=TRAF3IP1/NM_001139490.1/0;CC=c.1713-150A>G;VC=Intron;Gene=TRAF3IP1/NM_015650.3/1;CC=c.1911-150A>G;VC=Intron;DM=TRAF3IP1/MIP-T3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:18:0:0:19:579:66.89:63.61:3.28:1.00:1.00:1.00:60:39.3:0:0:44:106:34:NM_015650.3(TRAF3IP1) c.1911-150A>G,NM_015650.3(TRAF3IP1) c.1911-150A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 2 239307561 . A . . NT END=239335711;NT GT ./. 2 239335401 rs473651 A C 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:96:11.46:11.46:0.00:1.00:1.00:0.00:60:107.8:0:0:37:114:28:NM_001040445.1(ASB1) c.-86-u225A>C,NM_001040445.1(ASB1) c.-86-u225A>C:0.42,0.42:NOT_FOUND,NOT_FOUND 2 239335403 rs482775 G C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:119:13.81:13.81:0.00:1.00:1.00:0.00:60:107.8:0:0:39:112:28:NM_001040445.1(ASB1) c.-86-u223G>C,NM_001040445.1(ASB1) c.-86-u223G>C:0.4,0.4:NOT_FOUND,NOT_FOUND 2 239335473 rs474478 C T 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:279:32.63:32.63:0.00:1.00:1.00:0.00:60:55.3:0:0:41:110:22:NM_001040445.1(ASB1) c.-86-u153C>T,NM_001040445.1(ASB1) c.-86-u153C>T:0.43,0.43:NOT_FOUND,NOT_FOUND 2 239335761 . G . . NT END=239342194;NT GT ./. 2 239341961 rs571536 A C 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ASB1/NM_001040445.1/1;CC=c.50-234A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:295:33.79:33.79:0.00:1.00:1.00:0.00:60:57.7:0:0:37:98:17:NM_001040445.1(ASB1) c.50-234A>C,NM_001040445.1(ASB1) c.50-234A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 239342337 . G . . NT END=239344351;NT GT ./. 2 239344070 rs509903 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ASB1/NM_001040445.1/1;CC=c.192-282T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:60:45.8:0:0:64:87:27:NM_001040445.1(ASB1) c.192-282T>C,NM_001040445.1(ASB1) c.192-282T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 2 239344655 . G . . NT END=239352982;NT GT ./. 2 239353369 . G . . NT END=239355024;NT GT ./. 2 239355153 . A . . NT END=239755302;NT GT ./. 2 239742911 rs139025467 T TACACACACAC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=5;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TACACACACAC:3:4:3:1:1,2:33,101:0.00,6.75:0.00,3.38:0.00,3.38:0.00,0.51:0.00,0.51:0.00,0.89:60,60:62.0,26.5:0,1:0,0:101,45:50,88:0,5:-,chr2 g.239742911_239742912insACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 239756215 . C . . NT END=239756272;NT GT ./. 2 239756216 rs535730035 T C 345 nt VT=SNV;PN=C;NN=A;SST=Single;DP=214;DB;DBA=NA;PAF=NA;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:214:138:0:0:111,103:3566,3250:345.07,0.00:146.48,0.00:198.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,11.1:0,0:0,0:75,80:75,65:31,36:XM_002342310.1(LOC100287387) c.49-2A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 239756321 . C . . NT END=239756856;NT GT ./. 2 239757340 . C . . NT END=239974792;NT GT ./. 2 239974833 . C . . NT END=239975155;NT GT ./. 2 239975298 . C . . NT END=239976444;NT GT ./. 2 239976530 . C . . NT END=239988417;NT GT ./. 2 239988552 . C . . NT END=239990184;NT GT ./. 2 239990304 . C . . NT END=240002790;NT GT ./. 2 240002889 . C . . NT END=240003797;NT GT ./. 2 240003918 . C . . NT END=240005850;NT GT ./. 2 240005939 . C . . NT END=240009254;NT GT ./. 2 240009311 . C . . NT END=240011704;NT GT ./. 2 240009570 rs78078016 G GC 19 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=105;Gene=HDAC4/NM_006037.3/1;CC=c.2374-261dupG;VC=Intron;DM=HDAC4/Hist_deacetyl;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GC:5:0:5:0:5:168:19.18:0.00:19.18:1.00:0.00:1.00:60:0.0:0:0:84:67:16:NM_006037.3(HDAC4) c.2374-261_2374-260insG,NM_006037.3(HDAC4) c.2374-261_2374-260insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 240011813 . C . . NT END=240015626;NT GT ./. 2 240016753 . C . . NT END=240024471;NT GT ./. 2 240024593 . C . . NT END=240029745;NT GT ./. 2 240029490 rs3752804 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.2097+256G>A;VC=Intron;DM=HDAC4/Hist_deacetyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:167:19.08:19.08:0.00:1.00:1.00:0.00:60:74.2:0:0:38:113:14:NM_006037.3(HDAC4) c.2097+256G>A,NM_006037.3(HDAC4) c.2097+256G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 2 240029491 rs7581656 A G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.2097+255T>C;VC=Intron;DM=HDAC4/Hist_deacetyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:148:17.14:17.14:0.00:1.00:1.00:0.00:60:74.2:0:0:39:112:14:NM_006037.3(HDAC4) c.2097+255T>C,NM_006037.3(HDAC4) c.2097+255T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 2 240029736 rs7585225 T C 387 nt VT=SNV;PN=G;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.2097+10A>G;VC=Intron;DM=HDAC4/Hist_deacetyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:102:87:0:0:102:3383:386.77:244.62:142.15:1.00:1.00:1.00:60:40.9:0:0:58:87:24:NM_006037.3(HDAC4) c.2097+10A>G,NM_006037.3(HDAC4) c.2097+10A>G:0.82,0.82:0.788935,0.788935 2 240029880 . C . . NT END=240033221;NT GT ./. 2 240030122 rs3828202 A G 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.1964-243T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:385:44.58:0.00:44.58:1.00:0.00:1.00:60:49.2:0:0:108:43:20:NM_006037.3(HDAC4) c.1964-243T>C,NM_006037.3(HDAC4) c.1964-243T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 2 240033409 . C . . NT END=240036748;NT GT ./. 2 240036959 rs79199572 C T 509 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=133;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.1566G>A;ProtCh=p.P522=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:133:76:0:1:133:4458:509.08:204.40:304.68:1.00:1.00:1.00:60:40.7:0:0:85:63:30:NM_006037.3(HDAC4) c.1566G>A (p.(=)),NM_006037.3(HDAC4) c.1566G>A (p.(=)):0.02,0.02:0.041058,0.041058 2 240037007 . C . . NT END=240048151;NT GT ./. 2 240048027 rs2277885 C T 153 nt VT=SNV;PN=T;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.1518+125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:T:43:40:0:0:43:1324:152.80:120.54:32.26:1.00:1.00:1.00:60:38.3:0:0:44:106:28:NM_006037.3(HDAC4) c.1518+125G>A,NM_006037.3(HDAC4) c.1518+125G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 2 240048391 . C . . NT END=240055940;NT GT ./. 2 240055901 rs2278778 G A 152 nt VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;PC=0.003;Gene=HDAC4/NM_006037.3/1;CC=c.1294+40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:41:0:0:42:1318:151.76:133.08:18.68:1.00:1.00:1.00:60:40.4:0:0:39:111:20:NM_006037.3(HDAC4) c.1294+40C>T,NM_006037.3(HDAC4) c.1294+40C>T:0.58,0.58:0.473624,0.473624 2 240056140 . C . . NT END=240056222;NT GT ./. 2 240056340 . C . . NT END=240061379;NT GT ./. 2 240061493 . C . . NT END=240066278;NT GT ./. 2 240066033 rs3828211 C G 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.865+246G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:212:24.06:24.06:0.00:1.00:1.00:0.00:60:41.0:0:0:39:112:22:NM_006037.3(HDAC4) c.865+246G>C,NM_006037.3(HDAC4) c.865+246G>C:0.67,0.67:NOT_FOUND,NOT_FOUND 2 240066411 . C . . NT END=240078347;NT GT ./. 2 240066417 rs2290087 A G 284 nt VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.734-7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:37:0:0:76:2481:284.29:89.17:195.12:1.00:1.00:1.00:60:46.0:0:0:75:74:33:NM_006037.3(HDAC4) c.734-7T>C,NM_006037.3(HDAC4) c.734-7T>C:0.86,0.86:0.894741,0.894741 2 240066526 rs2290088 T C 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.734-116A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:C:34:2:0:0:34:941:110.05:3.43:106.62:1.00:1.00:1.00:60:55.9:0:0:108:43:33:NM_006037.3(HDAC4) c.734-116A>G,NM_006037.3(HDAC4) c.734-116A>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 240078470 . C . . NT END=240085498;NT GT ./. 2 240078587 rs5839723 GAC G 87 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1632;Gene=HDAC4/NM_006037.3/1;CC=c.612-120_612-119delGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:GAC,G:28:6:0:26:2,26:67,776:0.00,86.85:0.00,9.74:0.00,77.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,11.6:0,0:0,0:143,93:5,57:1,27:NM_006037.3(HDAC4) c.612-120_612-119delGT,NM_006037.3(HDAC4) c.612-120_612-119delGT:0.44,0.44:NOT_FOUND,NOT_FOUND 2 240085403 rs11124182 C A 96 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.611+96G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A,C:27:27:0:0:26,1:847,9:95.56,0.00:79.72,0.00:15.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.3,21.0:0,0:0,0:38,146:113,5:21,0:NM_006037.3(HDAC4) c.611+96G>T,NM_006037.3(HDAC4) c.611+96G>T:0.89,0.89:NOT_FOUND,NOT_FOUND 2 240085620 . C . . NT END=240098108;NT GT ./. 2 240085674 rs13010577 C T 155 nt VT=SNV;PN=G;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.491-55G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:T:46:16:0:0:46:1329:154.54:37.52:117.02:1.00:1.00:1.00:60:40.1:0:0:94:52:26:NM_006037.3(HDAC4) c.491-55G>A,NM_006037.3(HDAC4) c.491-55G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 2 240085795 rs2290089 A C 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.491-176T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:0:0:0:17:473:55.38:0.00:55.38:1.00:0.00:1.00:60:54.3:0:0:104:47:27:NM_006037.3(HDAC4) c.491-176T>G,NM_006037.3(HDAC4) c.491-176T>G:0.56,0.56:NOT_FOUND,NOT_FOUND 2 240098002 rs138604304 C T 82 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HDAC4/NM_006037.3/1;CC=c.490+107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:52:0:0:51,30:1258,909:0.00,82.13:0.00,44.29:0.00,37.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.1,77.3:0,0:0,0:86,115:42,8:35,13:-,NM_006037.3(HDAC4) c.490+107G>A:-,0.6:-,NOT_FOUND 2 240098010 rs573094758 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=287;Gene=HDAC4/NM_006037.3/1;CC=c.490+99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,T:55:29:0:0:10,45:227,1240:16.25,0.00:2.09,0.00:14.16,0.00:0.99,0.00:0.99,0.00:0.89,0.00:60,60:158.9,51.2:0,0:0,0:115,81:26,52:20,36:NM_006037.3(HDAC4) c.490+99A>G,-:NOT_FOUND,-:NOT_FOUND,- 2 240098012 rs555930790 C T 16 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=58;Gene=HDAC4/NM_006037.3/1;CC=c.490+97G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,T:54:29:0:0:44,10:1072,219:0.00,15.59:0.00,0.89:0.00,14.70:0.00,0.99:0.00,0.99:0.00,0.99:60,60:50.1,147.8:0,1:0,0:75,117:55,17:41,20:-,NM_006037.3(HDAC4) c.490+97G>A:-,NOT_FOUND:-,NOT_FOUND 2 240098017 rs139371543 G A 15 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.490+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G,T:61:34:0:1:8,52,1:213,1320,25:15.03,0.00,0.85:1.48,0.00,1.03:13.55,0.00,-0.18:0.95,0.00,0.00:0.97,0.00,0.00:0.97,0.00,0.00:60,60,60:167.5,44.2,194.0:0,3,0:0,0,0:129,55,65:10,59,66:13,43,0:NM_006037.3(HDAC4) c.490+92C>T,-:0.49,-:NOT_FOUND,- 2 240098053 rs533636659 C CCCCTCCCTCTGCCCGGCCT 52 nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HDAC4/NM_006037.3/1;CC=c.490+55_490+56insAGGCCGGGCAGAGGGAGGG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CCCCTCCCTCTGCCCGGCCT:57:36:26:3:30,1,26:879,35,566:0.00,2.00,51.73:0.00,1.01,36.75:0.00,0.99,14.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:42.6,35.0,12.3:1,0,0:0,0,0:75,0,32:26,128,116:35,0,8:-,NM_006037.3(HDAC4) c.490+55_490+56insAGGCCGGGCAGAGGGAGGG:-,NOT_FOUND:-,NOT_FOUND 2 240098260 . c . . NT END=240111528;NT GT ./. 2 240111477 rs531993 A T 126 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=HDAC4/NM_006037.3/1;CC=c.339+52T>A;VC=Intron;DM=HDAC4/HDAC4_Gln;DM=HDAC4/HDAC4_Gln;DM=HDAC4/HDAC4_Gln GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:32:0:0:37:1080:125.55:100.27:25.29:1.00:1.00:1.00:60:32.3:0:0:44:107:31:NM_006037.3(HDAC4) c.339+52T>A,NM_006037.3(HDAC4) c.339+52T>A:0.52,0.52:0.594188,0.594188 2 240111774 . C . . NT END=240158288;NT GT ./. 2 240111870 rs74761897 CG C 18 rn VT=DEL;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=49;PC=0.012;Gene=HDAC4/NM_006037.3/1;CC=c.95-98delC;VC=Intron;DM=HDAC4/HDAC4_Gln;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,CG,G,I,C:88:48:2:9:1,76,1,2,8:18,2302,10,61,286:0.12,0.00,-0.25,3.02,17.87:-0.13,0.00,-0.13,1.85,5.73:0.25,0.00,-0.12,1.17,12.13:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.00,0.99:60,60,60,60,60:140.0,25.1,19.0,40.0,17.9:0,0,0,0,1:0,0,0,0,0:132,94,6,100,76:19,48,145,50,74:0,26,0,16,33:-,NM_006037.3(HDAC4) c.95-98delC:-,NOT_FOUND:-,NOT_FOUND 2 240158055 rs190436138 A G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7;Gene=HDAC4/NM_006037.3/1;CC=c.94+234T>C;VC=Intron;DM=HDAC4/HDAC4_Gln GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:4:0:0:1,3:33,102:0.00,10.65:0.00,10.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,67.7:0,0:0,0:10,115:141,36:0,9:-,NM_006037.3(HDAC4) c.94+234T>C:-,0.0014:-,NOT_FOUND 2 240158361 . C . . NT END=240219860;NT GT ./. 2 240158529 rs3842554 A AAGAAAATCAAAGATCCTT 9 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;Gene=HDAC4/NM_006037.3/1;CC=c.23-170_23-169insAAGGATCTTTGATTTTCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,AAGAAAATCAAAGATCCTT:11:0:3:0:8,3:185,101:0.00,8.75:0.00,0.00:0.00,8.75:0.00,0.60:0.00,0.00:0.00,0.60:60,60:36.0,0.0:0,0:0,0:111,56:30,94:31,37:-,NM_006037.3(HDAC4) c.23-170_23-169insAAGGATCTTTGATTTTCT:-,NOT_FOUND:-,NOT_FOUND 2 240220333 . T . . NT END=240274372;NT GT ./. 2 240274395 . T . . NT END=240898367;NT GT ./. 2 240659491 . T G 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:G,T:11:0:0:0:4,7:139,203:12.69,0.00:0.00,0.00:12.69,0.00:0.82,0.00:0.00,0.00:0.82,0.00:31,54:46.5,34.3:0,1:0,0:65,76:65,35:4,34:chr2 g.240659490T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 240659585 . G A 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;PC=0.246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G,T:16:0:0:0:9,6,1:273,170,13:27.18,0.00,0.48:0.00,0.00,0.00:27.18,0.00,0.48:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:50,60,18:60.4,59.8,132.0:2,1,0:0,0,0:37,66,49:48,56,67:24,11,0:chr2 g.240659584G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 240659592 . T G 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:G,T:15:0:0:0:4,11:95,231:7.65,0.00:0.00,0.00:7.65,0.00:0.76,0.00:0.00,0.00:0.76,0.00:37,60:101.0,57.4:2,0:0,0:49,71:84,45:13,23:chr2 g.240659591T>G (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 240659660 . G T 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;PC=0.734 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,G,T:11:0:0:0:1,5,5:22,130,145:1.44,0.00,13.86:0.00,0.00,0.00:1.44,0.00,13.86:0.00,0.00,0.93:0.00,0.00,0.00:0.00,0.00,0.93:47,37,60:63.0,102.8,81.0:0,0,0:0,0,0:50,112,94:101,39,11:0,13,15:-,chr2 g.240659659G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 240659957 rs185465767 C G 22 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,G:11:2:0:0:3,8:77,211:0.00,22.07:0.00,1.59:0.00,20.49:0.00,1.00:0.00,0.94:0.00,1.00:60,60:27.0,65.5:1,0:0,0:73,38:33,75:11,22:-,chr2 g.240659956C>G (intergenic):-,0.14:-,NOT_FOUND 2 240747975 . C T 7 mq,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:4:4:0:0:2,2:70,68:0.00,6.55:0.00,6.70:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,18:35.0,202.0:0,0:0,0:93,62:57,86:4,2:-,chr2 g.240747974C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 240748000 . A C 7 mq,nt VT=SNV;PN=G;NN=T;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,C:4:4:0:0:2,2:68,72:0.00,6.95:0.00,7.25:0.00,-0.30:0.00,0.51:0.00,0.51:0.00,0.79:60,18:34.5,202.0:0,0:0,0:95,87:54,61:18,2:-,chr2 g.240747999A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 240748026 rs377608014 G A 7 mq,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:4:4:0:0:2,2:70,66:6.75,0.00:7.05,0.00:-0.30,0.00:0.51,0.00:0.51,0.00:0.79,0.00:18,60:202.0,15.5:0,0:0,0:113,68:35,82:2,35:chr2 g.240748025G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 2 240748027 . G T 7 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,T:4:4:0:0:2,2:67,68:0.00,6.55:0.00,6.85:0.00,-0.30:0.00,0.51:0.00,0.51:0.00,0.79:60,18:15.5,202.0:0,0:0,0:69,114:81,34:35,2:-,chr2 g.240748026G>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 240898578 rs4854069 C T 214 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=124;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.*1957G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:124:90:0:0:55,69:1814,2182:0.00,214.09:0.00,147.91:0.00,66.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,41.4:0,0:0,0:64,65:84,86:31,36:-,NM_004544.3(NDUFA10) c.*1957G>A:-,0.55:-,NOT_FOUND 2 240899057 . G . . NT END=240899284;NT GT ./. 2 240899346 rs66534347 G A 188 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.*1189C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:81:0:0:59,40:1888,1247:187.90,0.00:127.32,0.00:60.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,8.7:0,0:0,0:62,60:89,85:35,24:NM_004544.3(NDUFA10) c.*1189C>T,-:0.34,-:NOT_FOUND,- 2 240900121 rs13424612 C T 170 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.*414G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:70:0:0:51,55:1504,1756:0.00,170.11:0.00,75.29:0.00,94.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.1,36.5:0,0:0,0:77,85:70,55:36,37:-,NM_004544.3(NDUFA10) c.*414G>A:-,0.31:-,NOT_FOUND 2 240900604 . C . . NT END=240922932;NT GT ./. 2 240900607 rs138479490 TG T 148 nt VT=DEL;SST=Single;DP=108;DB;DBA=NA;PAF=NA;NP=1812;PC=0.002;Gene=NDUFA10/NM_004544.3/1;CC=c.1000-5delC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:108:57:0:49:59,49:1824,1568:0.00,147.91:0.00,53.72:0.00,94.19:0.00,1.00:0.00,1.00:0.00,1.00:60,70:6.3,5.4:1,0:0,0:91,74:58,76:31,39:-,NM_004544.3(NDUFA10) c.1000-5delC:-,0.31:-,0.264537 2 240901627 rs71404625 T TACACAC 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=4;NP=7;NP=9;PC=0.002;Gene=NDUFA10/NM_004544.3/1;CC=c.1000-1025_1000-1024insGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TACACAC:5:4:3:0:2,3:66,96:0.00,9.57:0.00,4.98:0.00,4.58:0.00,0.78:0.00,0.97:0.00,0.97:60,60:0.0,15.7:0,0:0,0:35,26:42,124:17,1:-,NM_004544.3(NDUFA10) c.1000-1025_1000-1024insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 240922822 rs958960 C A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.999+6669G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:20:17:0:0:11,9:332,284:32.47,0.00:22.99,0.00:9.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.4,7.2:0,0:0,0:40,16:110,127:27,11:NM_004544.3(NDUFA10) c.999+6669G>T,-:0.75,-:NOT_FOUND,- 2 240922997 . c . . NT END=240929490;NT GT ./. 2 240923050 rs1530144 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.999+6441G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:8:0:0:11,10:337,320:0.00,30.51:0.00,2.66:0.00,27.85:0.00,1.00:0.00,0.99:0.00,1.00:60,60:12.2,40.5:0,0:0,0:126,116:24,34:24,24:-,NM_004544.3(NDUFA10) c.999+6441G>A:-,0.46:-,0.429369 2 240923146 rs6716293 T C 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.999+6345A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,T:9:0:0:0:4,5:87,137:7.89,0.00:0.00,0.00:7.89,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:114.8,17.6:0,0:0,0:52,125:99,26:26,19:NM_004544.3(NDUFA10) c.999+6345A>G,-:0.38,-:0.001057,- 2 240923147 rs2887406 C T 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.999+6344G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,T:9:0:0:0:5,4:123,102:0.00,9.45:0.00,0.00:0.00,9.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:17.6,114.8:0,0:0,0:126,53:25,98:19,26:-,NM_004544.3(NDUFA10) c.999+6344G>A:-,0.38:-,NOT_FOUND 2 240929600 . C . . NT END=240944626;NT GT ./. 2 240944713 . C . . NT END=240946732;NT GT ./. 2 240946766 rs13848 T C 75 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=in-clinvar;PAF=NA;PC=0.055;Gene=NDUFA10/NM_004544.3/1;CC=c.771A>G;ProtCh=p.Q257=;VC=Silent;DM=NDUFA10/dNK;DM=NDUFA10/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:19:0:0:22,10:730,334:74.85,0.00:37.63,0.00:37.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,0.0:0,0:0,0:73,60:77,86:36,23:NM_004544.3(NDUFA10) c.771A>G (p.(=)),-:0.41,-:0.367692,- 2 240946788 . C . . NT END=240951033;NT GT ./. 2 240951114 . C . . NT END=240954155;NT GT ./. 2 240954110 rs2289407 A G 121 nt VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.669+46T>C;VC=Intron;DM=NDUFA10/dNK;DM=NDUFA10/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:63:0:0:32,37:998,1245:0.00,121.42:0.00,96.26:0.00,25.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,38.7:0,0:0,0:45,37:95,110:20,23:-,NM_004544.3(NDUFA10) c.669+46T>C:-,0.33:-,0.279333 2 240954278 . C . . NT END=240957231;NT GT ./. 2 240954593 rs4149543 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.548-316G>A;VC=Intron;DM=NDUFA10/dNK;DM=NDUFA10/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,T:5:0:0:0:2,3:41,91:0.00,9.09:0.00,0.00:0.00,9.09:0.00,0.78:0.00,0.00:0.00,0.78:60,60:29.0,30.3:0,0:0,0:137,79:13,72:12,20:-,NM_004544.3(NDUFA10) c.548-316G>A:-,0.7:-,NOT_FOUND 2 240957323 . C . . NT END=240957940;NT GT ./. 2 240958057 . C . . NT END=240960613;NT GT ./. 2 240958129 rs4149540 C T 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=NDUFA10/NM_004544.3/1;CC=c.461-73G>A;VC=Intron;DM=NDUFA10/dNK;DM=NDUFA10/dNK;DM=NDUFA10/dNK;DM=NDUFA10/dNK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:9:0:0:21,14:601,450:0.00,41.48:0.00,5.71:0.00,35.76:0.00,1.00:0.00,0.98:0.00,1.00:60,60:17.0,39.1:0,0:0,0:119,109:32,41:30,31:-,NM_004544.3(NDUFA10) c.461-73G>A:-,0.7:-,NOT_FOUND 2 240960830 . C . . NT END=240961588;NT GT ./. 2 240961728 rs2083411 T C 90 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=in-clinvar;PAF=NA;PC=0.001;Gene=NDUFA10/NM_004544.3/1;CC=c.105A>G;ProtCh=p.K35=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:77:49:0:0:29,48:979,1466:89.60,0.00:44.03,0.00:45.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,7.5:0,0:0,0:76,58:63,86:28,24:NM_004544.3(NDUFA10) c.105A>G (p.(=)),-:0.72,-:0.694526,- 2 240961758 . C . . NT END=240964643;NT GT ./. 2 240961852 rs7596788 A G 55 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=NA;PC=0.029;Gene=NDUFA10/NM_004544.3/1;CC=c.76-95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:18:0:0:28,18:955,594:0.00,54.62:0.00,10.88:0.00,43.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,39.7:0,0:0,0:87,94:53,50:31,22:-,NM_004544.3(NDUFA10) c.76-95T>C:-,0.79:-,NOT_FOUND 2 240964393 rs34936508 CCT C 11 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=3;Gene=NDUFA10/NM_004544.3/1;CC=c.75+249_75+250delAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CCT,C:6:6:0:4:2,4:42,109:0.00,11.17:0.00,11.17:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:57.5,5.0:0,0:0,0:30,67:117,83:6,10:-,NM_004544.3(NDUFA10) c.75+249_75+250delAG:-,0.72:-,NOT_FOUND 2 240964719 . G . . NT END=240981229;NT GT ./. 2 240969312 rs10187574 A G 97 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=NA;PC=1.000;Gene=OR6B2/NM_001005853.1/1;CC=c.535T>C;ProtCh=p.C179R;VC=Missense;DM=OR6B2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:48:0:0:48,36:1599,1045:0.00,96.67:0.00,55.33:0.00,41.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,38.5:0,0:0,0:101,98:45,47:32,21:-,NM_001005853.1(OR6B2) c.535T>C (p.Cys179Arg):-,0.33:-,NOT_FOUND 2 240969483 rs145620667 G A 87 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=1.000;Gene=OR6B2/NM_001005853.1/1;CC=c.364C>T;ProtCh=p.R122C;VC=Missense;DM=OR6B2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:34:0:0:27,30:909,838:86.73,0.00:47.33,0.00:39.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:39.1,24.8:0,0:0,0:75,63:75,86:45,23:NM_001005853.1(OR6B2) c.364C>T (p.Arg122Cys),-:0.32,-:NOT_FOUND,- 2 240981072 rs6722509 C T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:10,6:290,200:0.00,18.28:0.00,18.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:33.6,44.0:0,0:0,0:55,56:96,94:20,17:-,chr2 g.240981071C>T (intergenic):-,0.68:-,NOT_FOUND 2 240981179 rs6731916 T C 178 nt VT=SNV;PN=G;NN=T;SST=Single;DP=96;DB;DBA=NA;PAF=NA;PC=0.362 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:96:93:0:0:1,54,41:24,1808,1256:0.75,178.32,0.00:0.76,173.57,0.00:-0.01,4.74,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:24.0,42.1,3.5:0,0,0:0,0,0:49,46,40:102,103,111:0,27,22:chr2 g.240981178T>C (intergenic),-:0.73,-:0.725881,- 2 240981375 rs6732185 T A 1030 lc VT=SNV;PN=C;NN=T;SST=Single;DP=659;DB;DBA=NA;PAF=NA;Gene=PRR21/NM_001080835.1/1;CC=c.1025A>T;ProtCh=p.K342M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:659:587:0:0:335,1,4,319:10674,11,77,10475:1030.04,-0.25,1.70,0.00:788.51,-0.18,0.97,0.00:241.53,-0.07,0.73,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:55.6,54.0,133.8,19.5:0,0,0,0:0,0,0,0:60,96,89,60:83,48,40,78:38,0,25,35:NM_001080835.1(PRR21) c.1025A>T (p.Lys342Met),-:0.73,-:0.723358,- 2 240981668 rs199598022 C A 46 lc VT=SNV;PN=C;NN=G;SST=Single;DP=146;DB;DBA=NA;PAF=NA;Gene=PRR21/NM_001080835.1/1;CC=c.732G>T;ProtCh=p.T244=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:146:74:0:0:20,124,1,1:613,3443,5,14:45.77,0.00,-0.36,-0.20:5.47,0.00,-0.13,0.03:40.31,0.00,-0.23,-0.23:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:40,47,16,11:102.5,55.8,83.0,89.0:0,0,0,0:0,0,0,0:116,93,98,144:22,52,37,7:12,30,0,0:NM_001080835.1(PRR21) c.732G>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 2 240982052 rs77588089 C G 453 lc VT=SNV;PN=A;NN=G;SST=Single;DP=458;DB;DBA=NA;PAF=NA;NP=1;NP=702;Gene=PRR21/NM_001080835.1/1;CC=c.348G>C;ProtCh=p.S116=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:458:285:0:1:11,252,176,19:147,6625,4949,243:1.97,0.00,452.95,5.48:-0.04,0.00,225.78,1.56:2.02,0.00,227.17,3.91:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,37:106.3,50.9,82.3,85.7:0,0,0,0:0,0,0,0:37,45,25,51:114,97,121,87:21,26,13,24:-,NM_001080835.1(PRR21) c.348G>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 240982116 rs72993513 C A 775 lc VT=SNV;PN=C;NN=G;SST=Single;DP=722;DB;DBA=NA;PAF=NA;Gene=PRR21/NM_001080835.1/1;CC=c.284G>T;ProtCh=p.R95L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:722:410:0:0:292,423,5,2:8454,11408,56,37:775.29,0.00,-0.53,0.23:284.66,0.00,-0.50,0.51:490.63,0.00,-0.03,-0.29:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,58:72.2,45.8,102.0,145.5:0,0,0,0:0,0,0,0:73,66,51,54:71,66,80,82:24,25,33,7:NM_001080835.1(PRR21) c.284G>T (p.Arg95Leu),-:0.24,-:NOT_FOUND,- 2 240982142 rs74754936 A G 85 lc VT=SNV;PN=G;NN=C;SST=Single;DP=702;DB;DBA=NA;PAF=NA;Gene=PRR21/NM_001080835.1/1;CC=c.258T>C;ProtCh=p.S86=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:A,C,G,T,D:702:352:0:2:607,7,85,2,1:16324,72,1541,23,22:0.00,-1.86,85.45,-0.69,-0.09:0.00,-0.58,45.12,-0.27,-0.01:0.00,-1.28,40.34,-0.42,-0.09:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:0.00,0.00,1.00,0.00,0.00:60,60,60,38,60:51.5,144.7,93.7,109.0,59.0:0,0,0,0,0:0,0,0,0,0:94,88,79,101,5:44,62,49,40,146:27,26,22,6,0:-,NM_001080835.1(PRR21) c.258T>C (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 240982228 rs10439373 C T 450 lc VT=SNV;PN=C;NN=G;SST=Single;DP=430;DB;DBA=NA;PAF=NA;Gene=PRR21/NM_001080835.1/1;CC=c.172G>A;ProtCh=p.G58S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:430:172:0:1:4,246,11,169:51,6438,121,4909:-0.28,0.00,0.82,450.17:-0.29,0.00,0.98,122.43:0.01,0.00,-0.16,327.74:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:96.5,54.1,81.7,73.8:0,1,0,1:0,0,0,0:35,75,90,95:110,58,48,52:9,41,46,38:-,NM_001080835.1(PRR21) c.172G>A (p.Gly58Ser):-,NOT_FOUND:-,0.488236 2 240982400 . G . . NT END=240984493;NT GT ./. 2 240984833 rs13389099 C G 206 lc VT=SNV;PN=G;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=NA;Gene=OR6B3/NM_173351.1/1;CC=c.657G>C;ProtCh=p.A219=;VC=Silent;DM=OR6B3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:132:94:0:0:65,67:2024,2137:0.00,206.07:0.00,105.52:0.00,100.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,37.9:0,0:0,0:85,70:64,80:33,31:-,NM_173351.1(OR6B3) c.657G>C (p.(=)):-,0.24:-,0.280044 2 240984994 rs201316037 C T 96 lc VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=33;Gene=OR6B3/NM_173351.1/1;CC=c.496G>A;ProtCh=p.V166I;VC=Missense;DM=OR6B3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:25:0:0:33,32:965,1006:0.00,96.40:0.00,19.66:0.00,76.74:0.00,1.00:0.00,1.00:0.00,1.00:50,60:10.3,45.1:0,0:0,0:95,117:56,30:31,18:-,NM_173351.1(OR6B3) c.496G>A (p.Val166Ile):-,NOT_FOUND:-,0.009723 2 240985099 rs150098707 G A 36 lc VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=1914;PC=0.978;Gene=OR6B3/NM_173351.1/1;CC=c.391C>T;ProtCh=p.R131C;VC=Missense;DM=OR6B3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:24:0:0:14,26:407,792:36.13,0.00:27.29,0.00:8.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:40,40:43.5,7.5:0,0:0,0:52,75:98,74:30,31:NM_173351.1(OR6B3) c.391C>T (p.Arg131Cys),-:0.67,-:NOT_FOUND,- 2 240985347 rs13030992 G A 84 lc VT=SNV;PN=G;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=1911;PC=0.291;Gene=OR6B3/NM_173351.1/1;CC=c.143C>T;ProtCh=p.T48I;VC=Missense;DM=OR6B3/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:41:0:0:28,45:920,1449:84.27,0.00:54.18,0.00:30.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:34.4,11.2:0,0:0,0:50,85:101,61:26,33:NM_173351.1(OR6B3) c.143C>T (p.Thr48Ile),-:0.46,-:NOT_FOUND,- 2 240985490 . G . . NT END=241065979;NT GT ./. 2 240985511 rs10933560 A G 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:25:0:0:25,28:843,873:0.00,84.72:0.00,27.12:0.00,57.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,38.4:0,0:0,0:73,104:66,40:35,31:-,NM_001080835.1(PRR21) c.1-u3112T>C:-,0.64:-,0.589446 2 241044126 . GCA G 12 idl,rn VT=DEL;SST=Single;DP=10;NP=2;PC=0.001;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,GCA,G:8:8:0:6:1,3,4:33,87,175:2.64,0.00,12.05:-0.11,0.00,7.34:2.76,0.00,4.71:0.00,0.00,0.84:0.00,0.00,0.97:0.00,0.00,0.94:60,60,70:75.0,17.7,37.0:0,0,2:0,0,0:88,99,19:38,32,131:0,29,9:-,chr2 g.241044127_241044128delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 2 241051394 rs7577548 A G 10 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:4:4:0:0:1,3:31,100:0.00,10.45:0.00,8.78:0.00,1.68:0.00,0.85:0.00,0.85:0.00,0.95:60,60:58.0,85.3:0,1:0,0:83,67:68,84:0,39:-,chr2 g.241051393A>G (intergenic):-,0.71:-,NOT_FOUND 2 241066280 rs4292120 C T 241 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=184;DB;DBA=NA;PAF=NA;Gene=MYEOV2/NM_138336.1/1;CC=c.459G>A;ProtCh=p.E153=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:184:114:0:0:105,79:3494,2584:0.00,241.48:0.00,111.90:0.00,129.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,61.0:0,0:0,0:69,75:80,67:29,33:-,NM_138336.1(MYEOV2) c.459G>A (p.(=)):-,0.71:-,0.67169 2 241066325 rs12614632 A C 229 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MYEOV2/NM_138336.1/1;CC=c.414T>G;ProtCh=p.A138=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:179:97:0:0:100,79:3210,2453:0.00,229.45:0.00,104.51:0.00,124.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,61.0:0,0:0,0:86,90:62,60:34,37:-,NM_138336.1(MYEOV2) c.414T>G (p.(=)):-,0.25:-,0.150646 2 241066358 . C . . NT END=241069327;NT GT ./. 2 241066551 rs35819442 G A 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=MYEOV2/NM_138336.1/1;CC=c.382-194C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:1:0:0:8,15:265,492:23.86,0.00:3.22,0.00:20.65,0.00:0.99,0.00:0.57,0.00:1.00,0.00:60,60:54.1,13.4:0,0:0,0:121,102:28,49:9,34:NM_138336.1(MYEOV2) c.382-194C>T,-:0.34,-:NOT_FOUND,- 2 241066575 rs35905059 G C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=MYEOV2/NM_138336.1/1;CC=c.382-218C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,G:16:1:0:0:5,11:156,338:13.67,0.00:1.69,0.00:11.99,0.00:0.88,0.00:0.54,0.00:0.88,0.00:60,60:66.8,6.2:0,0:0,0:95,92:56,59:48,17:NM_138336.1(MYEOV2) c.382-218C>G,-:0.3,-:NOT_FOUND,- 2 241069446 . C . . NT END=241070241;NT GT ./. 2 241070240 rs1866646 A G 103 nt VT=SNV;PN=C;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=NA;PC=0.007;Gene=MYEOV2/NM_138336.1/1;CC=c.263+232T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:79:66:0:0:40,38,1:1328,1083,10:0.00,102.60,-0.10:0.00,67.22,-0.17:0.00,35.38,0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.6,38.6,132.0:0,0,0:0,0,0:62,51,45:87,91,106:42,33,0:-,NM_138336.1(MYEOV2) c.263+232T>C:-,0.71:-,NOT_FOUND 2 241070506 . C . . NT END=241073349;NT GT ./. 2 241073423 . C . . NT END=241075608;NT GT ./. 2 241075765 . G . . NT END=241078586;NT GT ./. 2 241078772 . C . . NT END=241079478;NT GT ./. 2 241078784 rs2279690 A T 137 nt VT=SNV;PN=A;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.001;Gene=OTOS/NM_148961.3/1;CC=c.86-13T>A;VC=Intron;DM=OTOS/OTOS GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:73:38:0:0:32,41:1069,1391:0.00,136.94:0.00,44.85:0.00,92.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,42.1:0,0:0,0:95,70:50,76:30,32:-,NM_148961.3(OTOS) c.86-13T>A:-,0.35:-,0.250884 2 241078983 rs55855364 A AG 19 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=19;Gene=OTOS/NM_148961.3/1;CC=c.86-213dupC;VC=Intron;DM=OTOS/OTOS;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:AG:6:0:6:0:6:165:19.35:0.00:19.35:1.00:0.00:1.00:60:36.0:0:0:67:81:34:NM_148961.3(OTOS) c.86-213_86-212insC,NM_148961.3(OTOS) c.86-213_86-212insC:0.25,0.25:NOT_FOUND,NOT_FOUND 2 241079506 . C . . NT END=241079685;NT GT ./. 2 241079591 rs10190781 G A 123 nt VT=SNV;PN=G;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=NA;Gene=OTOS/NM_148961.3/1;CC=c.59-86C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:60:0:0:42,44:1285,1397:122.59,0.00:65.52,0.00:57.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.9,11.0:0,0:0,0:73,59:77,91:46,40:NM_148961.3(OTOS) c.59-86C>T,-:0.06,-:0.086947,- 2 241079744 . C . . NT END=241375335;NT GT ./. 2 241079807 rs114600258 G A 108 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=OTOS/NM_148961.3/1;CC=c.-64C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:31:0:0:37,40:1134,1245:107.88,0.00:31.33,0.00:76.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,15.8:0,0:0,0:109,87:42,64:21,36:NM_148961.3(OTOS) c.-64C>T,-:0.02,-:0.028314,- 2 241079956 rs2291768 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=OTOS/NM_148961.3/1;CC=c.-119+81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,T:11:0:0:0:5,6:160,155:15.10,0.00:0.00,0.00:15.10,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:45.0,37.5:0,0:0,0:82,102:69,48:47,39:NM_148961.3(OTOS) c.-119+81A>G,-:0.13,-:NOT_FOUND,- 2 241288708 rs75472126 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G:4:4:0:0:3,1:81,10:8.57,0.00:8.85,0.00:-0.28,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,31:132.0,81.0:0,0:0,0:56,75:88,76:49,0:chr2 g.241288707G>A (intergenic),-:0.18,-:NOT_FOUND,- 2 241288709 rs2352830 T C 15 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:128:14.71:13.22:1.49:1.00:1.00:1.00:60:119.2:0:0:66:81:26:chr2 g.241288708T>C (intergenic),chr2 g.241288708T>C (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 2 241288719 rs59275381 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:136:15.98:11.62:4.36:1.00:1.00:1.00:60:113.4:0:0:67:77:49:chr2 g.241288718C>T (intergenic),chr2 g.241288718C>T (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 2 241288858 rs10933594 G A 11 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:1:0:0:4:94:11.23:1.89:9.34:1.00:1.00:1.00:60:67.0:0:0:74:76:13:chr2 g.241288857G>A (intergenic),chr2 g.241288857G>A (intergenic):0.67,0.67:NOT_FOUND,NOT_FOUND 2 241375502 . G . . NT END=241398446;NT GT ./. 2 241375527 rs2352823 C T 112 nt VT=SNV;PN=A;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=0.001;Gene=GPC1/NM_002081.2/1;CC=c.166+26C>T;VC=Intron;DM=GPC1/Glypican;DM=GPC1/Glypican;DM=GPC1/Glypican;DM=GPC1/Glypican;DM=GPC1/Glypican GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:38:0:0:38,39:1218,1163:0.00,111.64:0.00,26.62:0.00,85.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,45.2:0,0:0,0:102,112:44,36:26,21:-,NM_002081.2(GPC1) c.166+26C>T:-,0.2:-,0.25795 2 241398606 . G . . NT END=241401607;NT GT ./. 2 241401741 rs1042829 C T 162 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=NA;Gene=GPC1/NM_002081.2/1;CC=c.459C>T;ProtCh=p.R153=;VC=Silent;DM=GPC1/Glypican;DM=GPC1/Glypican;DM=GPC1/Glypican;DM=GPC1/Glypican;DM=GPC1/Glypican GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:117:79:0:0:63,54:2075,1713:0.00,162.00:0.00,85.30:0.00,76.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,42.2:0,0:0,0:76,62:70,85:38,41:-,NM_002081.2(GPC1) c.459C>T (p.(=)):-,0.14:-,0.201374 2 241402000 . G . . NT END=241402763;NT GT ./. 2 241402631 rs76543431 A G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=GPC1/NM_002081.2/1;CC=c.718-133A>G;VC=Intron;DM=GPC1/Glypican;DM=GPC1/Glypican;DM=GPC1/Glypican GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:22:22:0:0:13,1,8:408,8,218:0.00,-0.04,19.52:0.00,-0.04,19.52:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:18.7,85.0,44.1:0,0,0:0,0,0:71,125,54:80,26,97:58,0,20:-,NM_002081.2(GPC1) c.718-133A>G:-,0.15:-,NOT_FOUND 2 241402930 . G . . NT END=241404032;NT GT ./. 2 241403014 rs881029 T C 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=GPC1/NM_002081.2/1;CC=c.883+85T>C;VC=Intron;DM=GPC1/Glypican;DM=GPC1/Glypican GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:7:0:0:14,10:426,283:42.26,0.00:11.52,0.00:30.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,20.3:0,0:0,0:84,102:67,45:32,24:NM_002081.2(GPC1) c.883+85T>C,-:0.18,-:NOT_FOUND,- 2 241404164 . G . . NT END=241404272;NT GT ./. 2 241404393 . G . . NT END=241404493;NT GT ./. 2 241404628 . G . . NT END=241404889;NT GT ./. 2 241405066 . G . . NT END=241405474;NT GT ./. 2 241405400 rs10700206 C CGTG 28 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=867;Gene=GPC1/NM_002081.2/1;CC=c.1445-74_1445-73insTGG;VC=Intron;DM=GPC1/Glypican;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CGTG:39:35:11:0:28,11:907,329:0.00,28.08:0.00,22.66:0.00,5.41:0.00,1.00:0.00,1.00:0.00,0.98:60,60:16.6,56.8:0,0:0,0:43,41:107,110:26,20:-,NM_002081.2(GPC1) c.1445-75_1445-74insGTG:-,NOT_FOUND:-,NOT_FOUND 2 241405479 rs1126920 C T 81 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=GPC1/NM_002081.2/1;CC=c.1449C>T;ProtCh=p.D483=;VC=Silent;DM=GPC1/Glypican GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:70:0:0:51,29:1592,904:0.00,81.47:0.00,60.81:0.00,20.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,80.4:0,0:0,0:68,50:74,101:35,21:-,NM_002081.2(GPC1) c.1449C>T (p.(=)):-,0.08:-,0.107286 2 241405528 rs2228331 A G 104 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;PC=0.847;Gene=GPC1/NM_002081.2/1;CC=c.1498A>G;ProtCh=p.S500G;VC=Missense;DM=GPC1/Glypican GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:78:0:0:62,37:2067,1148:0.00,104.04:0.00,64.85:0.00,39.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,77.6:0,0:0,0:66,74:81,76:39,36:-,NM_002081.2(GPC1) c.1498A>G (p.Ser500Gly):-,0.64:-,0.773377 2 241405608 rs1042841 A G 133 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=NA;PC=0.201;Gene=GPC1/NM_002081.2/1;CC=c.1578A>G;ProtCh=p.G526=;VC=Silent;DM=GPC1/Glypican GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:66:0:0:56,41:1723,1422:0.00,133.10:0.00,56.16:0.00,76.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,48.6:0,0:0,0:88,56:61,91:28,23:-,NM_002081.2(GPC1) c.1578A>G (p.(=)):-,0.08:-,0.111795 2 241405708 . C . . NT END=241419025;NT GT ./. 2 241405864 rs11892254 C T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.004;Gene=GPC1/NM_002081.2/1;CC=c.*157C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:9:0:0:0:6,3:164,99:0.00,8.85:0.00,0.00:0.00,8.85:0.00,0.96:0.00,0.00:0.00,0.96:60,60:44.0,54.7:0,0:0,0:121,121:30,30:14,19:-,NM_002081.2(GPC1) c.*157C>T:-,0.09:-,NOT_FOUND 2 241419073 . C . . NT END=241420353;NT GT ./. 2 241420515 . C . . NT END=241421599;NT GT ./. 2 241421679 . C . . NT END=241439374;NT GT ./. 2 241421846 rs10804408 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2807-168G>A;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1877-168G>A;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1823-168G>A;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.2540-168G>A;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1868-168G>A;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.2246-168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:C,T:9:0:0:0:5,4:147,114:0.00,10.61:0.00,0.00:0.00,10.61:0.00,0.85:0.00,0.00:0.00,0.85:60,60:19.0,67.8:0,0:0,0:132,108:18,42:12,34:-,NM_016552.2(ANKMY1) c.2540-168G>A:-,0.36:-,NOT_FOUND 2 241439326 rs12994525 G C 154 nt VT=SNV;PN=G;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANKMY1/NM_001282771.1/1;CC=c.2806+49C>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1876+49C>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1822+49C>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.2539+49C>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1867+49C>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.2245+49C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:80:74:0:0:46,33,1:1554,1047,10:154.01,0.00,-0.06:120.12,0.00,-0.01:33.89,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:102.3,7.6,166.0:0,0,0:0,0,0:59,29,105:89,120,46:40,18,0:NM_016552.2(ANKMY1) c.2539+49C>G,-:0.37,-:0.20232,- 2 241439329 rs12994526 G T 165 nt VT=SNV;PN=C;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2806+46C>A;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1876+46C>A;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1822+46C>A;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.2539+46C>A;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1867+46C>A;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.2245+46C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:83:76:0:0:1,33,49:12,958,1657:0.01,0.00,165.23:0.05,0.00,127.21:-0.04,0.00,38.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:166.0,7.5,100.5:0,1,0:0,0,0:108,34,46:43,115,95:0,20,34:-,NM_016552.2(ANKMY1) c.2539+46C>A:-,0.37:-,0.206323 2 241439337 rs12994534 G A 163 nt VT=SNV;PN=C;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2806+38C>T;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1876+38C>T;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1822+38C>T;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.2539+38C>T;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1867+38C>T;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.2245+38C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:90:83:0:0:52,38:1645,1161:162.72,0.00:125.07,0.00:37.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:98.0,10.5:0,0:0,0:50,34:98,109:36,20:NM_016552.2(ANKMY1) c.2539+38C>T,-:0.45,-:0.291101,- 2 241439541 . C . . NT END=241439868;NT GT ./. 2 241439983 . C . . NT END=241446976;NT GT ./. 2 241440020 rs12986801 T C 134 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2527-38A>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1597-38A>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1543-38A>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.2260-38A>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1588-38A>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.1966-38A>G;VC=Intron;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:102:C:38:20:0:0:38:1159:133.79:46.08:87.71:1.00:1.00:1.00:60:39.1:0:0:118:31:16:NM_016552.2(ANKMY1) c.2260-38A>G,NM_016552.2(ANKMY1) c.2260-38A>G:0.56,0.56:0.453322,0.453322 2 241447109 . C . . NT END=241448764;NT GT ./. 2 241448641 rs75962196 A G 7 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=1;Gene=ANKMY1/NM_001282771.1/1;CC=c.2394+124T>C;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1596+2637T>C;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1410+124T>C;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.2127+124T>C;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1456-1533T>C;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.1834-1533T>C;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/zf-MYND;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:13:13:0:0:10,3:323,88:0.00,7.18:0.00,7.18:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,60:24.1,76.7:0,0:0,0:78,2:73,149:29,0:-,NM_016552.2(ANKMY1) c.2127+124T>C:-,NOT_FOUND:-,NOT_FOUND 2 241448660 rs72998010 G A,GGATA 25 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=105;NP=142;PC=0.011;DM=ANKMY1/Ank_2;DM=ANKMY1/zf-MYND;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:174:A,G,GGATA:15:15:6:0:8,1,6:242,35,190:25.50,0.00,19.25:25.50,0.00,19.25:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:52.8,21.0,14.0:0,0,0:0,0,0:18,130,81:132,5,69:4,0,25:NM_016552.2(ANKMY1) c.2127+105C>T,NM_016552.2(ANKMY1) c.2127+104_2127+105insTATC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 241448873 . C . . NT END=241451277;NT GT ./. 2 241451117 rs74866741 G A 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2286+161C>T;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1596+161C>T;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1302+161C>T;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.2019+161C>T;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1455+1102C>T;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.1833+161C>T;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:25:0:0:15,10:446,291:44.38,0.00:44.38,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:52.3,9.2:0,0:0,0:41,28:110,123:37,12:NM_016552.2(ANKMY1) c.2019+161C>T,-:0.1,-:NOT_FOUND,- 2 241451419 . C . . NT END=241452218;NT GT ./. 2 241452068 rs12695024 C T 75 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2145+151G>A;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1455+151G>A;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1161+151G>A;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.1878+151G>A;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1455+151G>A;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.1692+151G>A;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:21:0:0:21:654:75.40:75.40:0.00:1.00:1.00:0.00:60:45.5:0:0:68:80:25:NM_016552.2(ANKMY1) c.1878+151G>A,NM_016552.2(ANKMY1) c.1878+151G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 2 241452198 rs12695025 T C 269 nt VT=SNV;PN=A;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2145+21A>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1455+21A>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1161+21A>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.1878+21A>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1455+21A>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.1692+21A>G;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:64:0:0:72:2350:269.28:197.42:71.86:1.00:1.00:1.00:60:74.1:0:0:52:95:36:NM_016552.2(ANKMY1) c.1878+21A>G,NM_016552.2(ANKMY1) c.1878+21A>G:0.67,0.67:0.633554,0.633554 2 241452212 rs12695026 T C 331 nt VT=SNV;PN=G;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.2145+7A>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.1455+7A>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.1161+7A>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.1878+7A>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.1455+7A>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.1692+7A>G;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:88:75:0:0:1,87:10,2902:0.11,331.13:0.00,229.10:0.11,102.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,68.3:0,0:0,0:35,51:114,89:0,33:NM_016552.2(ANKMY1) c.1878+7A>G,NM_016552.2(ANKMY1) c.1878+7A>G:0.68,0.68:0.633708,0.633708 2 241452360 . C . . NT END=241459778;NT GT ./. 2 241459951 . C . . NT END=241463301;NT GT ./. 2 241463799 . C . . NT END=241465101;NT GT ./. 2 241464055 rs55701266 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.1336-257A>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.646-257A>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.646-257A>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.1069-257A>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.646-257A>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.883-257A>G;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:6:0:0:0:3,3:94,95:9.03,0.00:0.00,0.00:9.03,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:41.3,0.0:0,0:0,0:137,89:13,62:2,1:NM_016552.2(ANKMY1) c.1069-257A>G,-:0.04,-:NOT_FOUND,- 2 241464915 rs4398270 A C 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.1335+187T>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.645+187T>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.645+187T>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.1068+187T>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.645+187T>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.882+187T>G;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:219:25.23:25.23:0.00:1.00:1.00:0.00:60:34.4:0:0:83:68:33:NM_016552.2(ANKMY1) c.1068+187T>G,NM_016552.2(ANKMY1) c.1068+187T>G:0.76,0.76:NOT_FOUND,NOT_FOUND 2 241465261 rs35186665 G A 84 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.990;Gene=ANKMY1/NM_001282771.1/1;CC=c.1176C>T;ProtCh=p.H392=;VC=Silent;Gene=ANKMY1/NM_001282780.1/0;CC=c.486C>T;ProtCh=p.H162=;VC=Silent;Gene=ANKMY1/NM_001282781.1/0;CC=c.486C>T;ProtCh=p.H162=;VC=Silent;Gene=ANKMY1/NM_016552.3/0;CC=c.909C>T;ProtCh=p.H303=;VC=Silent;Gene=ANKMY1/NM_017844.3/0;CC=c.486C>T;ProtCh=p.H162=;VC=Silent;Gene=ANKMY1/NM_001308375.1/0;CC=c.723C>T;ProtCh=p.H241=;VC=Silent;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:57:27:0:0:30,27:872,910:84.25,0.00:29.63,0.00:54.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.5,14.3:0,0:0,0:64,72:80,73:36,39:NM_016552.2(ANKMY1) c.909C>T (p.(=)),-:0.04,-:0.07658,- 2 241465267 . C . . NT END=241465645;NT GT ./. 2 241465361 rs68048482 T C 98 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.1171-95A>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.481-95A>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.481-95A>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.904-95A>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.481-95A>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.718-95A>G;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:C,T:29:11:0:0:28,1:871,25:98.40,0.00:22.43,0.00:75.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.8,60.0:0,0:0,0:117,24:33,107:22,0:NM_016552.2(ANKMY1) c.904-95A>G,NM_016552.2(ANKMY1) c.904-95A>G:0.22,0.22:NOT_FOUND,NOT_FOUND 2 241465863 . C . . NT END=241466069;NT GT ./. 2 241465994 rs10933611 T C 358 nt VT=SNV;PN=G;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.954-132A>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.481-728A>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.481-728A>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.687-132A>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.481-728A>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.718-728A>G;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:95:67:0:0:95:3128:357.94:221.06:136.88:1.00:1.00:1.00:60:103.0:0:0:54:95:24:NM_016552.2(ANKMY1) c.687-132A>G,NM_016552.2(ANKMY1) c.687-132A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 2 241466020 rs7593034 G C 377 nt VT=SNV;PN=C;NN=C;SST=Single;DP=106;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.954-158C>G;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.481-754C>G;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.481-754C>G;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.687-158C>G;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.481-754C>G;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.718-754C>G;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:106:78:0:0:106:3272:377.46:236.26:141.21:1.00:1.00:1.00:60:97.1:0:0:66:80:29:NM_016552.2(ANKMY1) c.687-158C>G,NM_016552.2(ANKMY1) c.687-158C>G:0.67,0.67:NOT_FOUND,NOT_FOUND 2 241466032 rs10933612 A G 397 nt VT=SNV;PN=C;NN=A;SST=Single;DP=111;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.954-170T>C;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.481-766T>C;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.481-766T>C;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.687-170T>C;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.481-766T>C;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.718-766T>C;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:111:83:0:0:111:3448:397.34:225.25:172.09:1.00:1.00:1.00:60:92.4:0:0:62:77:29:NM_016552.2(ANKMY1) c.687-170T>C,NM_016552.2(ANKMY1) c.687-170T>C:0.72,0.72:NOT_FOUND,NOT_FOUND 2 241466447 . t . . NT END=241468453;NT GT ./. 2 241466583 rs111737028 A G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.954-721T>C;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.481-1317T>C;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.481-1317T>C;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.687-721T>C;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.481-1317T>C;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.718-1317T>C;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,G:8:0:0:2:4,4:117,110:0.00,10.50:0.00,0.00:0.00,10.50:0.00,0.87:0.00,0.00:0.00,0.87:60,60:39.0,57.0:0,0:0,0:73,82:77,42:24,53:-,NM_016552.2(ANKMY1) c.687-721T>C:-,0.06:-,NOT_FOUND 2 241466693 rs9646892 A G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.954-831T>C;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.481-1427T>C;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.481-1427T>C;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.687-831T>C;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.481-1427T>C;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.718-1427T>C;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/Ank_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:133:15.66:0.00:15.66:1.00:0.00:1.00:60:58.8:0:0:86:26:42:NM_016552.2(ANKMY1) c.687-831T>C,NM_016552.2(ANKMY1) c.687-831T>C:0.23,0.23:NOT_FOUND,NOT_FOUND 2 241468927 . C . . NT END=241492330;NT GT ./. 2 241492255 rs4676428 G T 188 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.480+76C>A;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.480+76C>A;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.480+76C>A;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.213+76C>A;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.480+76C>A;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.717+76C>A;VC=Intron;DM=ANKMY1/MORN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:G,T:51:47:0:0:1,50:7,1654:0.00,187.78:0.00,152.74:0.00,35.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.0,39.6:0,0:0,0:124,39:25,106:0,16:NM_016552.2(ANKMY1) c.213+76C>A,NM_016552.2(ANKMY1) c.213+76C>A:0.71,0.71:NOT_FOUND,NOT_FOUND 2 241492475 . C . . NT END=241494282;NT GT ./. 2 241492528 rs10933614 A T 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ANKMY1/NM_001282771.1/1;CC=c.337-54T>A;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.337-54T>A;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.337-54T>A;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.70-54T>A;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.337-54T>A;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.574-54T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:50:18:0:0:33,17:941,514:0.00,45.60:0.00,13.40:0.00,32.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,50.4:0,0:0,0:86,81:65,69:23,32:-,NM_016552.2(ANKMY1) c.70-54T>A:-,0.05:-,NOT_FOUND 2 241494473 . C . . NT END=241496606;NT GT ./. 2 241496445 rs11285932 TA T 98 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=1724;PC=0.046;Gene=ANKMY1/NM_001282771.1/1;CC=c.146+161delT;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.146+161delT;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.146+161delT;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.-122+852delT;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.146+161delT;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.383+161delT;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/MORN;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:27:0:29:27:847:97.57:97.57:0.00:1.00:1.00:0.00:60:18.6:0:0:35:116:13:NM_016552.2(ANKMY1) c.-122+852delT,NM_016552.2(ANKMY1) c.-122+852delT:0.64,0.64:NOT_FOUND,NOT_FOUND 2 241496567 rs7609147 A G 129 nt VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.146+40T>C;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.146+40T>C;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.146+40T>C;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.-122+731T>C;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.146+40T>C;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.383+40T>C;VC=Intron;DM=ANKMY1/Ank_2;DM=ANKMY1/MORN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:74:68:0:0:30,44:932,1293:0.00,128.51:0.00,98.06:0.00,30.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,38.6:0,0:0,0:41,58:104,93:26,34:-,NM_016552.2(ANKMY1) c.-122+731T>C:-,0.33:-,0.392211 2 241496770 . C . . NT END=241497297;NT GT ./. 2 241496841 rs12465325 C G 114 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001282771.1/1;CC=c.-17-72G>C;VC=Intron;Gene=ANKMY1/NM_001282780.1/0;CC=c.-17-72G>C;VC=Intron;Gene=ANKMY1/NM_001282781.1/0;CC=c.-17-72G>C;VC=Intron;Gene=ANKMY1/NM_016552.3/0;CC=c.-122+457G>C;VC=Intron;Gene=ANKMY1/NM_017844.3/0;CC=c.-17-72G>C;VC=Intron;Gene=ANKMY1/NM_001308375.1/0;CC=c.221-72G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:61:25:0:0:25,36:729,1143:0.00,113.56:0.00,27.80:0.00,85.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,39.5:0,0:0,0:103,102:48,46:28,24:-,NM_016552.2(ANKMY1) c.-122+457G>C:-,0.05:-,NOT_FOUND 2 241497406 . G . . NT END=241500101;NT GT ./. 2 241499831 rs55672855 A T 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001308375.1/0;CC=c.220+317T>A;VC=Intron;Gene=DUSP28/NM_001033575.1/1;CC=c.-271A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,T:12:12:0:0:3,9:69,276:0.00,28.96:0.00,27.03:0.00,1.93:0.00,1.00:0.00,1.00:0.00,0.83:60,60:56.7,36.2:0,0:0,0:126,46:25,95:7,35:-,NM_001033575.1(DUSP28) c.-271A>T:-,0.05:-,NOT_FOUND 2 241500368 . G . . NT END=241500746;NT GT ./. 2 241500508 rs10933615 T C 296 nt VT=SNV;PN=T;NN=A;SST=Single;DP=170;DB;DBA=NA;PAF=NA;Gene=ANKMY1/NM_001308375.1/0;CC=c.-141A>G;VC=5UTR;Gene=DUSP28/NM_001033575.1/1;CC=c.393+14T>C;VC=Intron;DM=DUSP28/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:170:83:0:0:91,1,78:3029,8,2347:295.68,-0.17,0.00:99.22,-0.08,0.00:196.45,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.0,184.0,8.7:0,0,0:0,0,0:97,0,99:52,151,49:31,0,30:NM_001033575.1(DUSP28) c.393+14T>C,-:0.15,-:0.18423,- 2 241500674 rs4676426 C G 91 nt VT=SNV;PN=A;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=NA;Gene=DUSP28/NM_001033575.1/1;CC=c.394-73C>G;VC=Intron;DM=DUSP28/DSPc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:84:52:0:0:53,30,1:1664,1003,8:0.00,91.07,-0.21:0.00,40.68,-0.09:0.00,50.38,-0.12:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:28.0,45.3,41.0:0,0,0:0,0,0:68,98,35:83,52,99:35,39,0:-,NM_001033575.1(DUSP28) c.394-73C>G:-,0.49:-,NOT_FOUND 2 241500885 . A . . NT END=241508003;NT GT ./. 2 241500896 rs1128149 C T 206 nt VT=SNV;PN=C;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=NA;PC=0.001;Gene=DUSP28/NM_001033575.1/1;CC=c.*12C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:63:0:0:64,64:2141,2137:0.00,205.69:0.00,65.31:0.00,140.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,41.0:0,0:0,0:80,98:67,46:39,23:-,NM_001033575.1(DUSP28) c.*12C>T:-,0.14:-,0.202861 2 241500981 . TTG T 11 rn VT=DEL;SST=Single;DP=62;PC=0.014;Gene=DUSP28/NM_001033575.1/1;CC=c.*52+60_*52+61delTG;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:TTG,T:62:9:0:5:57,5:1733,164:0.00,11.24:0.00,-0.22:0.00,11.46:0.00,0.69:0.00,0.48:0.00,0.97:60,60:18.6,25.0:0,0:0,0:105,54:44,96:25,22:-,NM_001033575.1(DUSP28) c.*52+46_*52+47delTG:-,NOT_FOUND:-,NOT_FOUND 2 241508532 . G . . NT END=241511839;NT GT ./. 2 241511566 rs4676423 T C 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=RNPEPL1/NM_018226.4/1;CC=c.529-274T>C;VC=Intron;DM=RNPEPL1/Peptidase_M1;DM=RNPEPL1/Leuk-A4-hydro_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:275:31.79:31.79:0.00:1.00:1.00:0.00:60:56.1:0:0:36:115:26:NM_018226.4(RNPEPL1) c.529-274T>C,NM_018226.4(RNPEPL1) c.529-274T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 2 241511981 . G . . NT END=241512526;NT GT ./. 2 241512049 rs2975769 C A 65 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=RNPEPL1/NM_018226.4/1;CC=c.669+69C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:59:16:0:0:24,34,1:706,1062,11:64.93,0.00,-0.06:8.56,0.00,-0.05:56.37,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.4,12.5,174.0:0,0,0:0,0,0:96,100,27:54,49,124:23,23,0:NM_018226.4(RNPEPL1) c.669+69C>A,-:0.37,-:NOT_FOUND,- 2 241512271 rs2001821 C T 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=RNPEPL1/NM_018226.4/1;CC=c.670-256C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:C,T:13:7:0:0:8,5:238,156:0.00,14.23:0.00,4.98:0.00,9.25:0.00,0.91:0.00,0.95:0.00,0.93:60,60:2.1,65.8:0,0:0,0:64,127:86,23:25,12:-,NM_018226.4(RNPEPL1) c.670-256C>T:-,0.35:-,NOT_FOUND 2 241512470 rs2001823 G T 352 nt VT=SNV;PN=C;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=RNPEPL1/NM_018226.4/1;CC=c.670-57G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:93:78:0:0:93:3081:352.42:250.80:101.62:1.00:1.00:1.00:60:42.3:0:0:48:99:28:NM_018226.4(RNPEPL1) c.670-57G>T,NM_018226.4(RNPEPL1) c.670-57G>T:0.76,0.76:NOT_FOUND,NOT_FOUND 2 241512679 . G . . NT END=241513191;NT GT ./. 2 241512830 rs143634220 C CGCCAGGGCCCTGCCT 36 nt VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=4;Gene=RNPEPL1/NM_018226.4/1;CC=c.821+166_821+167insTGCCAGGGCCCTGCC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CGCCAGGGCCCTGCCT:28:0:12:0:16,12:458,387:0.00,36.15:0.00,0.00:0.00,36.15:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.4,5.0:0,0:0,0:135,48:15,101:12,16:-,NM_018226.4(RNPEPL1) c.821+152_821+153insGCCAGGGCCCTGCCT:-,NOT_FOUND:-,NOT_FOUND 2 241512983 rs2001544 C A 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=RNPEPL1/NM_018226.4/1;CC=c.822-209C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:A,C:9:8:0:0:7,2:226,64:23.87,0.00:24.52,0.00:-0.65,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:49.4,6.0:0,0:0,0:70,54:80,97:22,39:NM_018226.4(RNPEPL1) c.822-209C>A,-:0.23,-:NOT_FOUND,- 2 241513309 . G . . NT END=241513529;NT GT ./. 2 241513766 . G . . NT END=241513931;NT GT ./. 2 241514046 . G . . NT END=241514446;NT GT ./. 2 241514560 . G . . NT END=241514918;NT GT ./. 2 241515028 . G . . NT END=241515951;NT GT ./. 2 241516094 rs34344571 G C 198 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=NA;PC=0.001;Gene=RNPEPL1/NM_018226.4/1;CC=c.1653G>C;ProtCh=p.S551=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:132:93:0:0:68,64:2056,1870:198.38,0.00:98.15,0.00:100.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,9.7:0,0:0,0:99,83:48,65:37,31:NM_018226.4(RNPEPL1) c.1653G>C (p.(=)),-:0.03,-:0.042963,- 2 241516183 . G . . NT END=241516264;NT GT ./. 2 241516241 rs76791955 C T 152 nt VT=SNV;PN=C;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=0.099;Gene=RNPEPL1/NM_018226.4/1;CC=c.1742-24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:119:77:0:0:68,51:2179,1631:0.00,152.07:0.00,74.35:0.00,77.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,40.5:0,0:0,0:74,65:74,85:34,38:-,NM_018226.4(RNPEPL1) c.1742-24C>T:-,0.03:-,0.04514 2 241516408 . G . . NT END=241517015;NT GT ./. 2 241517310 . C . . NT END=241526328;NT GT ./. 2 241526053 rs56352308 A T 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,T:11:11:0:0:4,7:125,212:0.00,21.41:0.00,21.63:0.00,-0.22:0.00,1.00:0.00,1.00:0.00,0.76:60,60:7.5,65.4:0,0:0,0:22,30:106,121:14,12:-,NM_023083.3(CAPN10) c.-196-u80A>T:-,0.12:-,NOT_FOUND 2 241526167 rs56244291 G A 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.-162G>A;VC=5UTR;Gene=CAPN10/NM_023085.3/0;CC=c.-162G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:28:0:0:13,15:397,397:37.54,0.00:37.54,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:64.4,19.5:0,0:0,0:60,82:91,69:47,34:NM_023083.3(CAPN10) c.-162G>A,-:0.11,-:NOT_FOUND,- 2 241526259 rs55650580 T A 132 nt VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CAPN10/NM_023083.3/1;CC=c.-70T>A;VC=5UTR;Gene=CAPN10/NM_023085.3/0;CC=c.-70T>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:96:85:0:0:44,1,51:1394,11,1609:131.89,-0.10,0.00:90.82,-0.03,0.00:41.07,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:46.2,11.0,12.6:0,0,0:0,0,0:44,69,45:100,82,104:25,0,24:NM_023083.3(CAPN10) c.-70T>A,-:0.14,-:NOT_FOUND,- 2 241526470 . G . . NT END=241528759;NT GT ./. 2 241528892 . G . . NT END=241530231;NT GT ./. 2 241528927 rs55893551 G A 198 nt VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.273+36G>A;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.273+36G>A;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:48:0:0:63,52:2027,1655:198.26,0.00:58.87,0.00:139.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.4,3.7:0,0:0,0:88,105:59,39:28,32:NM_023083.3(CAPN10) c.273+36G>A,-:0.11,-:0.123807,- 2 241528968 rs55976923 G C 135 nt VT=SNV;PN=G;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.273+77G>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.273+77G>C;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:71:14:0:0:45,26:1335,835:134.69,0.00:10.07,0.00:124.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.1,5.5:0,0:0,0:104,100:47,49:28,21:NM_023083.3(CAPN10) c.273+77G>C,-:0.11,-:NOT_FOUND,- 2 241529078 rs56351903 G C 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.273+187G>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.273+187G>C;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:0:0:0:13,8:330,244:33.01,0.00:0.00,0.00:33.01,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:63.2,12.9:0,0:0,0:111,85:40,66:14,50:NM_023083.3(CAPN10) c.273+187G>C,-:0.03,-:NOT_FOUND,- 2 241530423 rs150614251 C T 114 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=10;PC=0.996;Gene=CAPN10/NM_023083.3/1;CC=c.465C>T;ProtCh=p.Y155=;VC=Silent;Gene=CAPN10/NM_023085.3/0;CC=c.465C>T;ProtCh=p.Y155=;VC=Silent;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:44:0:0:51,37:1576,1219:0.00,113.58:0.00,47.14:0.00,66.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,36.6:0,0:0,0:126,84:24,64:21,27:-,NM_023083.3(CAPN10) c.465C>T (p.(=)):-,0.0014:-,0.000769 2 241530429 . G . . NT END=241531349;NT GT ./. 2 241530616 rs2975757 A T 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.470+188A>T;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.470+188A>T;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:0:0:0:9,8:260,261:0.00,24.83:0.00,0.00:0.00,24.83:0.00,0.99:0.00,0.00:0.00,0.99:60,60:5.3,39.2:0,0:0,0:86,82:65,67:37,26:-,NM_023083.3(CAPN10) c.470+188A>T:-,0.11:-,NOT_FOUND 2 241531163 rs2975760 T C 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.471-187T>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.471-187T>C;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:12:12:0:0:5,7:169,192:15.76,0.00:15.76,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:56.8,2.9:0,0:0,0:47,59:104,92:22,49:NM_023083.3(CAPN10) c.471-187T>C,-:0.11,-:NOT_FOUND,- 2 241531479 rs3792269 A G 189 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.600A>G;ProtCh=p.P200=;VC=Silent;Gene=CAPN10/NM_023085.3/0;CC=c.600A>G;ProtCh=p.P200=;VC=Silent;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:159:109:0:0:93,66:3151,2040:0.00,188.61:0.00,87.44:0.00,101.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,46.2:0,0:0,0:78,68:72,75:33,42:-,NM_023083.3(CAPN10) c.600A>G (p.(=)):-,0.11:-,0.124423 2 241531568 . G . . NT END=241533322;NT GT ./. 2 241531575 rs3792270 A G 129 nt VT=SNV;PN=C;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.688+8A>G;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.688+8A>G;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:102:50:0:0:61,41:1931,1390:0.00,128.72:0.00,41.59:0.00,87.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,57.3:0,0:0,0:97,100:47,51:30,20:-,NM_023083.3(CAPN10) c.688+8A>G:-,0.03:-,0.041891 2 241533030 rs3792273 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.002;Gene=CAPN10/NM_023083.3/1;CC=c.689-293T>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.689-293T>C;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,T:7:7:0:0:4,3:121,99:11.93,0.00:11.93,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:30.2,0.0:0,0:0,0:45,31:105,120:21,3:NM_023083.3(CAPN10) c.689-293T>C,-:0.11,-:NOT_FOUND,- 2 241533465 . G . . NT END=241533959;NT GT ./. 2 241533845 rs2975763 T C 28 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.831-115T>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.831-115T>C;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:27:0:0:11,17:307,512:27.77,0.00:27.36,0.00:0.40,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:52.5,11.2:0,0:0,0:21,69:128,82:21,13:NM_023083.3(CAPN10) c.831-115T>C,-:0.92,-:NOT_FOUND,- 2 241533934 rs17846973 T C 99 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.831-26T>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.831-26T>C;VC=Intron;DM=CAPN10/Peptidase_C2;DM=CAPN10/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:64:52:0:0:33,31:1024,1003:98.83,0.00:67.04,0.00:31.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.4,11.5:0,0:0,0:36,42:105,85:20,29:NM_023083.3(CAPN10) c.831-26T>C,-:0.03,-:0.044979,- 2 241534127 . G . . NT END=241534440;NT GT ./. 2 241534163 rs17846975 G A 103 nt VT=SNV;PN=T;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.997+37G>A;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.997+37G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:29:0:0:35,31:1066,1046:103.48,0.00:31.05,0.00:72.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,8.9:0,0:0,0:116,104:34,47:19,28:NM_023083.3(CAPN10) c.997+37G>A,-:0.11,-:0.123347,- 2 241534381 rs2975764 A G 92 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.998-60A>G;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.998-60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:59:0:0:37,32:1154,979:0.00,92.48:0.00,60.31:0.00,32.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,43.7:0,0:0,0:37,30:94,117:29,17:-,NM_023083.3(CAPN10) c.998-60A>G:-,0.86:-,NOT_FOUND 2 241534722 . G . . NT END=241535350;NT GT ./. 2 241535939 . G . . NT END=241536097;NT GT ./. 2 241536053 rs2953171 C T 159 nt VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=NA;PC=0.006;Gene=CAPN10/NM_023083.3/1;CC=c.1482-45C>T;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.1279-1252C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:80:0:0:51,51:1538,1650:0.00,158.59:0.00,89.06:0.00,69.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,53.6:0,0:0,0:64,46:84,81:40,39:-,NM_023083.3(CAPN10) c.1482-45C>T:-,0.2:-,0.143635 2 241536126 rs7607759 A G 204 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.1510A>G;ProtCh=p.T504A;VC=Missense;Gene=CAPN10/NM_023085.3/0;CC=c.1279-1179A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:147:120:0:0:78,1,67,1:2520,9,2156,12:0.00,-0.18,204.09,-0.12:0.00,-0.15,136.46,-0.15:0.00,-0.03,67.63,0.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:10.7,41.0,55.1,12.0:0,0,0,0:0,0,0,0:59,50,54,41:87,99,94,110:31,0,26,0:-,NM_023083.3(CAPN10) c.1510A>G (p.Thr504Ala):-,0.11:-,0.120919 2 241536360 . G . . NT END=241537304;NT GT ./. 2 241537047 rs56960757 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.1744-258C>T;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.1279-258C>T;VC=Intron;DM=CAPN10/Calpain_III;DM=CAPN10/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:9:9:0:0:5,4:165,82:0.00,7.38:0.00,7.38:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:1.6,29.2:0,0:0,0:39,50:112,100:34,11:-,NM_023083.3(CAPN10) c.1744-258C>T:-,0.11:-,NOT_FOUND 2 241537505 . G . . NT END=241537768;NT GT ./. 2 241537569 rs17846981 T C 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.1943+65T>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.1478+65T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:13:0:0:13,16:376,521:35.13,0.00:13.40,0.00:21.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.5,6.0:0,0:0,0:94,104:56,46:44,31:NM_023083.3(CAPN10) c.1943+65T>C,-:0.11,-:NOT_FOUND,- 2 241537815 . G . . NT END=241538067;NT GT ./. 2 241538061 rs55878652 T C 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.1990-7T>C;VC=Intron;Gene=CAPN10/NM_023085.3/0;CC=c.1525-7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:62:37:0:0:1,30,31:11,952,982:-0.03,91.15,0.00:0.12,46.87,0.00:-0.15,44.28,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:177.0,70.5,35.8:0,0,0:0,0,0:53,83,96:98,66,41:0,29,25:NM_023083.3(CAPN10) c.1990-7T>C,-:0.11,-:0.117884,- 2 241538074 rs2975766 A G 210 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.1996A>G;ProtCh=p.I666V;VC=Missense;Gene=CAPN10/NM_023085.3/0;CC=c.1531A>G;ProtCh=p.I511V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:G:57:34:0:0:57:1828:209.90:81.12:128.78:1.00:1.00:1.00:60:61.3:0:0:92:58:25:NM_023083.3(CAPN10) c.=,NM_023083.3(CAPN10) c.=:0.99,0.99:0.978973,0.978973 2 241538098 . C . . NT END=241564661;NT GT ./. 2 241538229 rs2975767 A G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=CAPN10/NM_023083.3/1;CC=c.*132A>G;VC=3UTR;Gene=CAPN10/NM_023085.3/0;CC=c.*132A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,G:11:1:0:0:3,8:81,241:0.00,25.11:0.00,1.82:0.00,23.29:0.00,1.00:0.00,0.82:0.00,1.00:60,60:0.0,33.4:0,0:0,0:58,83:93,68:16,45:-,NM_023083.3(CAPN10) c.*132A>G:-,0.74:-,NOT_FOUND 2 241564986 . G . . NT END=241569365;NT GT ./. 2 241565055 rs12986443 T C 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=NA;Gene=GPR35/NM_001195381.1/1;CC=c.90-4311T>C;VC=Intron;Gene=GPR35/NM_001195382.1/0;CC=c.90-4311T>C;VC=Intron;Gene=GPR35/NM_005301.3/0;CC=c.-5+70T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:10:0:0:22,33:654,998:59.78,0.00:13.16,0.00:46.62,0.00:1.00,0.00:0.84,0.00:1.00,0.00:60,60:47.7,10.6:0,0:0,0:111,97:38,53:25,38:NM_001195381.1(GPR35) c.90-4311T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 241565066 rs559861207 T TG 44 nt VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;Gene=GPR35/NM_001195381.1/1;CC=c.90-4296dupG;VC=Intron;Gene=GPR35/NM_001195382.1/0;CC=c.90-4296dupG;VC=Intron;Gene=GPR35/NM_005301.3/0;CC=c.-5+85dupG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:51:7:17:0:34,17:912,495:0.00,43.55:0.00,7.60:0.00,35.95:0.00,1.00:0.00,0.92:0.00,1.00:60,60:20.0,52.9:0,0:0,0:102,105:48,46:39,29:-,NM_001195381.1(GPR35) c.90-4300_90-4299insG:-,NOT_FOUND:-,NOT_FOUND 2 241565156 rs67950490 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=45;PC=0.004;Gene=GPR35/NM_001195381.1/1;CC=c.90-4210A>G;VC=Intron;Gene=GPR35/NM_001195382.1/0;CC=c.90-4210A>G;VC=Intron;Gene=GPR35/NM_005301.3/0;CC=c.-5+171A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,G:16:2:0:0:11,5:330,109:0.00,8.93:0.00,0.38:0.00,8.56:0.00,0.88:0.00,0.61:0.00,0.99:60,60:26.3,104.8:0,0:0,0:111,127:34,21:24,7:-,NM_001195381.1(GPR35) c.90-4210A>G:-,NOT_FOUND:-,NOT_FOUND 2 241569329 rs2975785 A G 166 nt VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=NA;Gene=GPR35/NM_001195381.1/1;CC=c.90-37A>G;VC=Intron;Gene=GPR35/NM_001195382.1/0;CC=c.90-37A>G;VC=Intron;Gene=GPR35/NM_005301.3/0;CC=c.-4-37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:92:0:0:44,54:1366,1696:0.00,166.03:0.00,117.34:0.00,48.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,37.5:0,0:0,0:59,44:90,103:27,26:-,NM_001195381.1(GPR35) c.90-37A>G:-,0.48:-,0.435568 2 241569585 rs35155396 C T 335 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=215;DB;DBA=NA;PAF=NA;Gene=GPR35/NM_001195381.1/1;CC=c.309C>T;ProtCh=p.T103=;VC=Silent;Gene=GPR35/NM_001195382.1/0;CC=c.309C>T;ProtCh=p.T103=;VC=Silent;Gene=GPR35/NM_005301.3/0;CC=c.216C>T;ProtCh=p.T72=;VC=Silent;DM=GPR35/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:215:141:0:0:107,108:3403,3485:0.00,335.25:0.00,189.54:0.00,145.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,43.3:0,0:0,0:82,79:66,66:38,37:-,NM_001195381.1(GPR35) c.309C>T (p.(=)):-,0.02:-,0.022682 2 241569849 rs12468377 C T 337 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=246;DB;DBA=NA;PAF=NA;PC=0.001;Gene=GPR35/NM_001195381.1/1;CC=c.573C>T;ProtCh=p.G191=;VC=Silent;Gene=GPR35/NM_001195382.1/0;CC=c.573C>T;ProtCh=p.G191=;VC=Silent;Gene=GPR35/NM_005301.3/0;CC=c.480C>T;ProtCh=p.G160=;VC=Silent;DM=GPR35/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:246:160:0:0:125,1,120:4113,12,3541:0.00,-0.15,337.49:0.00,-0.05,133.67:0.00,-0.10,203.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.7,26.0,36.9:0,0,0:0,0,0:78,74,67:70,77,81:34,0,39:-,NM_001195381.1(GPR35) c.573C>T (p.(=)):-,0.04:-,0.052481 2 241570092 rs12468453 C T 325 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=223;DB;DBA=NA;PAF=NA;Gene=GPR35/NM_001195381.1/1;CC=c.816C>T;ProtCh=p.L272=;VC=Silent;Gene=GPR35/NM_001195382.1/0;CC=c.816C>T;ProtCh=p.L272=;VC=Silent;Gene=GPR35/NM_005301.3/0;CC=c.723C>T;ProtCh=p.L241=;VC=Silent;DM=GPR35/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:223:143:0:0:114,109:3686,3406:0.00,325.38:0.00,154.58:0.00,170.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,64.9:0,0:0,0:68,64:77,83:36,33:-,NM_001195381.1(GPR35) c.816C>T (p.(=)):-,0.04:-,0.055205 2 241570127 rs12468485 C T 317 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=234;DB;DBA=NA;PAF=NA;Gene=GPR35/NM_001195381.1/1;CC=c.851C>T;ProtCh=p.T284M;VC=Missense;Gene=GPR35/NM_001195382.1/0;CC=c.851C>T;ProtCh=p.T284M;VC=Missense;Gene=GPR35/NM_005301.3/0;CC=c.758C>T;ProtCh=p.T253M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:234:141:0:0:127,107:3955,3365:0.00,317.36:0.00,128.53:0.00,188.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,71.1:0,0:0,0:85,73:60,72:36,34:-,NM_001195381.1(GPR35) c.851C>T (p.Thr284Met):-,0.04:-,0.055359 2 241570249 rs3749172 A C 202 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=NA;Gene=GPR35/NM_001195381.1/1;CC=c.973A>C;ProtCh=p.S325R;VC=Missense;Gene=GPR35/NM_001195382.1/0;CC=c.973A>C;ProtCh=p.S325R;VC=Missense;Gene=GPR35/NM_005301.3/0;CC=c.880A>C;ProtCh=p.S294R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:138:72:0:0:68,69,1:2279,2103,11:0.00,201.95,-0.12:0.00,74.05,-0.08:0.00,127.91,-0.04:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.8,44.8,149.0:0,0,0:0,0,0:106,86,44:41,62,107:25,35,0:-,NM_001195381.1(GPR35) c.973A>C (p.Ser325Arg):-,0.5:-,0.457097 2 241570300 . G . . NT END=241615961;NT GT ./. 2 241570391 rs2975786 A G 55 nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=GPR35/NM_001195381.1/1;CC=c.*92A>G;VC=3UTR;Gene=GPR35/NM_001195382.1/0;CC=c.*92A>G;VC=3UTR;Gene=GPR35/NM_005301.3/0;CC=c.*92A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:38:4:0:0:18,1,19:581,6,576:0.00,-0.12,55.49:0.00,-0.02,3.09:0.00,-0.11,52.41:0.00,0.00,1.00:0.00,0.00,0.51:0.00,0.00,1.00:60,60,60:23.9,37.0,45.7:0,0,0:0,0,0:109,74,92:40,77,59:21,0,47:-,NM_001195381.1(GPR35) c.*92A>G:-,0.82:-,NOT_FOUND 2 241616119 rs1807128 T C 14 lc VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=4;PC=0.503;Gene=AQP12B/NM_001102467.1/1;CC=c.767A>G;ProtCh=p.H256R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:C,T:10:0:0:0:5,5:142,139:13.61,0.00:0.00,0.00:13.61,0.00:0.95,0.00:0.00,0.00:0.95,0.00:27,27:34.2,45.6:0,0:0,0:86,137:64,13:38,6:NM_001102467.1(AQP12B) c.767A>G (p.His256Arg),-:0.25,-:NOT_FOUND,- 2 241616162 . C . . NT END=241619768;NT GT ./. 2 241619614 rs142193573 C T 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=AQP12B/NM_001102467.1/1;CC=c.724+155G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:17,11:500,374:0.00,34.52:0.00,34.52:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:27,27:45.4,87.4:0,0:0,0:57,32:94,119:30,19:-,NM_001102467.1(AQP12B) c.724+155G>A:-,0.42:-,NOT_FOUND 2 241619639 rs377741829 A G 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=445;Gene=AQP12B/NM_001102467.1/1;CC=c.724+130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:39:0:0:26,13:818,339:0.00,29.26:0.00,29.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:27,27:52.0,81.1:0,0:0,0:48,54:100,96:34,24:-,NM_001102467.1(AQP12B) c.724+130T>C:-,NOT_FOUND:-,NOT_FOUND 2 241619674 rs200654741 C T 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=355;Gene=AQP12B/NM_001102467.1/1;CC=c.724+95G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:35:0:0:20,15:620,478:0.00,44.57:0.00,44.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:27,27:56.2,70.7:0,0:0,0:88,53:62,98:25,11:-,NM_001102467.1(AQP12B) c.724+95G>A:-,NOT_FOUND:-,NOT_FOUND 2 241619686 rs200371460 C A 42 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=276;Gene=AQP12B/NM_001102467.1/1;CC=c.724+83G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:33:0:0:15,18:448,566:42.08,0.00:38.65,0.00:3.43,0.00:1.00,0.00:1.00,0.00:0.75,0.00:27,27:70.7,52.5:0,0:0,0:65,97:86,53:11,23:NM_001102467.1(AQP12B) c.724+83G>T,-:NOT_FOUND,-:NOT_FOUND,- 2 241619708 rs138708092 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=164;Gene=AQP12B/NM_001102467.1/1;CC=c.724+61C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:28:27:0:0:5,23:148,661:11.49,0.00:10.05,0.00:1.44,0.00:0.81,0.00:0.98,0.00:0.55,0.00:27,27:29.6,67.8:0,0:0,0:118,96:33,55:18,19:NM_001102467.1(AQP12B) c.724+61C>T,-:NOT_FOUND,-:NOT_FOUND,- 2 241619886 . C . . NT END=241621647;NT GT ./. 2 241621799 rs201917032 GC G 284 lc VT=DEL;SST=Single;DP=155;DB;DBA=NA;PAF=NA;NP=210;PC=1.000;Gene=AQP12B/NM_001102467.1/1;CC=c.455delG;ProtCh=p.S152Tfs*24;VC=FrameShiftDel;DM=AQP12B/MIP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:155:133:0:94:61,94:1912,2845:0.00,284.28:0.00,189.94:0.00,94.33:0.00,1.00:0.00,1.00:0.00,1.00:54,60:34.4,7.9:2,0:0,0:52,52:99,94:42,23:-,NM_001102467.1(AQP12B) c.455delG (p.Ser152Thrfs*24):-,0.21:-,0.196619 2 241621869 rs74882485 G A 347 lc VT=SNV;PN=C;NN=T;SST=Single;DP=258;DB;DBA=NA;PAF=NA;PC=0.997;Gene=AQP12B/NM_001102467.1/1;CC=c.386C>T;ProtCh=p.T129M;VC=Missense;DM=AQP12B/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:258:184:0:0:116,142:3692,4453:347.45,0.00:209.03,0.00:138.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.2,8.7:0,0:0,0:49,69:99,74:26,38:NM_001102467.1(AQP12B) c.386C>T (p.Thr129Met),-:NOT_FOUND,-:NOT_FOUND,- 2 241622195 rs184458523 T C 196 lc VT=SNV;PN=C;NN=G;SST=Single;DP=214;DB;DBA=NA;PAF=NA;Gene=AQP12B/NM_001102467.1/1;CC=c.60A>G;ProtCh=p.A20=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:214:106:0:0:75,139:2207,4498:196.13,0.00:59.29,0.00:136.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.3,36.8:0,0:0,0:113,89:34,61:18,32:NM_001102467.1(AQP12B) c.60A>G (p.(=)),-:0.11,-:0.018467,- 2 241622209 rs4081908 T C 658 lc VT=SNV;PN=G;NN=G;SST=Single;DP=189;DB;DBA=NA;PAF=NA;Gene=AQP12B/NM_001102467.1/1;CC=c.46A>G;ProtCh=p.T16A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:189:88:0:0:187,2:5704,34:657.78,0.92:225.31,0.00:432.47,0.92:1.00,0.00:1.00,0.00:1.00,0.00:60,55:50.8,65.0:0,0:0,0:103,39:47,110:26,26:NM_001102467.1(AQP12B) c.46A>G (p.Thr16Ala),NM_001102467.1(AQP12B) c.46A>G (p.Thr16Ala):0.63,0.63:0.743203,0.743203 2 241622255 . C . . NT END=241631330;NT GT ./. 2 241631090 rs368015887 G A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=30 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:144:A,G:21:21:0:0:5,16:169,480:14.29,0.00:14.34,0.00:-0.06,0.00:0.85,0.00:0.85,0.00:0.49,0.00:40,45:59.2,34.9:0,0:0,0:40,23:109,128:11,15:NM_198998.2(AQP12A) c.-69-u172G>A,-:NOT_FOUND,-:NOT_FOUND,- 2 241631267 rs71428453 A G 153 nt VT=SNV;PN=C;NN=G;SST=Single;DP=195;DB;DBA=NA;PAF=NA;Gene=AQP12A/NM_198998.2/1;CC=c.-64A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:195:172:0:0:135,1,59:4430,14,1762:0.00,-0.16,152.56:0.00,-0.07,118.32:0.00,-0.09,34.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,52,60:5.7,94.0,38.5:0,0,0:0,0,0:35,44,34:110,107,117:22,0,17:-,NM_198998.2(AQP12A) c.-64A>G:-,0.22:-,NOT_FOUND 2 241631413 rs71428454 T G 354 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=321;DB;DBA=NA;PAF=NA;PC=0.134;Gene=AQP12A/NM_198998.2/1;CC=c.83T>G;ProtCh=p.L28R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:321:239:0:0:1,127,193:11,3867,6351:-0.21,353.81,0.00:-0.10,206.00,0.00:-0.11,147.81,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:86.0,59.2,27.2:0,0,0:0,0,0:37,63,88:114,81,56:0,33,35:NM_198998.2(AQP12A) c.83T>G (p.Leu28Arg),-:0.21,-:NOT_FOUND,- 2 241631454 . G . . NT END=241631490;NT GT ./. 2 241631476 rs4328629 C G 1084 nt VT=SNV;PN=G;NN=C;SST=Single;DP=295;DB;DBA=NA;PAF=NA;PC=0.751;Gene=AQP12A/NM_198998.2/1;CC=c.124-15C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:295:200:0:0:1,292,2:9,9484,22:0.00,1084.41,0.18:0.00,525.66,0.09:0.00,558.76,0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:20.0,51.6,55.5:0,0,0:0,0,0:53,65,73:98,79,77:0,37,63:NM_198998.2(AQP12A) c.124-15C>G,NM_198998.2(AQP12A) c.124-15C>G:0.61,0.61:0.587352,0.587352 2 241631839 rs202017172 G A 247 lc VT=SNV;PN=C;NN=C;SST=Single;DP=198;DB;DBA=NA;PAF=NA;NP=204;PC=0.016;Gene=AQP12A/NM_198998.2/1;CC=c.472G>A;ProtCh=p.A158T;VC=Missense;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:198:62:0:0:87,111:2649,3639:247.42,0.00:34.13,0.00:213.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:43,43:63.2,9.7:1,0:0,0:113,103:35,48:22,27:NM_198998.2(AQP12A) c.472G>A (p.Ala158Thr),-:NOT_FOUND,-:NOT_FOUND,- 2 241631886 rs375751722 C G 140 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=NA;NP=447;Gene=AQP12A/NM_198998.2/1;CC=c.519C>G;ProtCh=p.P173=;VC=Silent;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:127:8:0:0:78,49:2235,1536:0.00,140.30:0.00,-1.69:0.00,141.99:0.00,1.00:0.00,0.97:0.00,1.00:40,40:11.4,103.4:0,0:0,0:95,95:55,56:38,34:-,NM_198998.2(AQP12A) c.519C>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 241631901 rs58669952 C T 119 sb,lc VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=NA;NP=322;Gene=AQP12A/NM_198998.2/1;CC=c.534C>T;ProtCh=p.P178=;VC=Silent;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:107:9:0:0:66,1,40:1857,5,1301:0.00,-0.24,118.80:0.00,-0.01,-1.62:0.00,-0.23,120.42:0.00,0.00,1.00:0.00,0.00,0.97:0.00,0.00,1.00:40,27,40:9.1,158.0,111.6:0,0,0:0,0,0:88,86,99:62,65,52:36,0,30:-,NM_198998.2(AQP12A) c.534C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 2 241631939 . G . . NT END=241633849;NT GT ./. 2 241631971 rs113386203 G C 45 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=47;Gene=AQP12A/NM_198998.2/1;CC=c.571+33G>C;VC=Intron;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:55:7:0:0:17,37,1:516,1210,8:45.09,0.00,-0.19:-1.12,0.00,-0.06:46.21,0.00,-0.13:1.00,0.00,0.00:0.90,0.00,0.00:1.00,0.00,0.00:40,40,40:131.5,10.3,237.0:0,0,0:0,0,0:104,103,34:47,48,117:30,22,0:NM_198998.2(AQP12A) c.571+33G>C,-:NOT_FOUND,-:NOT_FOUND,- 2 241632002 rs375199935 C T 32 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=9;Gene=AQP12A/NM_198998.2/1;CC=c.571+64C>T;VC=Intron;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:7:0:0:27,14:848,365:0.00,31.69:0.00,-1.26:0.00,32.96:0.00,1.00:0.00,0.93:0.00,1.00:40,40:9.9,146.2:0,0:0,0:112,110:39,39:24,26:-,NM_198998.2(AQP12A) c.571+64C>T:-,NOT_FOUND:-,NOT_FOUND 2 241632016 rs62187805 T C 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=4;Gene=AQP12A/NM_198998.2/1;CC=c.571+78T>C;VC=Intron;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:6:0:0:10,23:259,679:21.85,0.00:-0.94,0.00:22.79,0.00:1.00,0.00:0.87,0.00:1.00,0.00:40,40:146.7,17.9:0,0:0,0:112,115:37,36:26,22:NM_198998.2(AQP12A) c.571+78T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 241632069 rs113634800 A G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=AQP12A/NM_198998.2/1;CC=c.571+131A>G;VC=Intron;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:13:1:0:0:9,4:287,114:0.00,9.82:0.00,-0.08:0.00,9.90:0.00,0.79:0.00,0.54:0.00,0.79:40,40:6.4,183.8:0,0:0,0:74,119:75,32:44,21:-,NM_198998.2(AQP12A) c.571+131A>G:-,NOT_FOUND:-,NOT_FOUND 2 241632072 . C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;Gene=AQP12A/NM_198998.2/1;CC=c.571+134C>T;VC=Intron;DM=AQP12A/MIP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,T:13:1:0:0:10,3:286,92:0.00,7.58:0.00,-0.06:0.00,7.64:0.00,0.58:0.00,0.49:0.00,0.58:40,40:6.5,201.3:0,0:0,0:56,109:93,42:37,25:-,NM_198998.2(AQP12A) c.571+134C>T:-,NOT_FOUND:-,NOT_FOUND 2 241633967 . G . . NT END=241637573;NT GT ./. 2 241637774 . G . . NT END=241656780;NT GT ./. 2 241656824 . C . . NT END=241657466;NT GT ./. 2 241657586 . C . . NT END=241658422;NT GT ./. 2 241658616 . C . . NT END=241659190;NT GT ./. 2 241659015 rs10933635 T C 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KIF1A/NM_004321.6/0;CC=c.4718+176A>G;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.5021+176A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:210,192:20.10,0.00:20.10,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.0,23.7:0,0:0,0:22,72:129,79:17,35:NM_001244008.1(KIF1A) c.5021+176A>G,-:0.29,-:NOT_FOUND,- 2 241659344 . C . . NT END=241660330;NT GT ./. 2 241659368 rs6437368 C A 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.4566-25G>T;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.4869-25G>T;VC=Intron;DM=KIF1A/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:91:41:0:0:39,52:1207,1543:112.33,0.00:18.61,0.00:93.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,9.4:0,0:0,0:95,79:54,60:32,23:NM_001244008.1(KIF1A) c.4869-25G>T,-:0.81,-:0.769012,- 2 241660456 . C . . NT END=241661223;NT GT ./. 2 241661302 . C . . NT END=241661872;NT GT ./. 2 241662074 . C . . NT END=241662829;NT GT ./. 2 241662976 . C . . NT END=241663391;NT GT ./. 2 241663019 rs2043252 C T 88 nt VT=SNV;PN=G;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KIF1A/NM_004321.6/0;CC=c.4016-44G>A;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.4319-44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:75:36:0:0:1,44,30:23,1464,955:0.69,0.00,88.11:-0.07,0.00,31.23:0.76,0.00,56.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:58.0,12.2,42.1:0,0,0:0,0,0:123,107,92:28,35,55:0,22,29:-,NM_001244008.1(KIF1A) c.4319-44G>A:-,0.34:-,0.263591 2 241663454 . C . . NT END=241664687;NT GT ./. 2 241664822 . C . . NT END=241666242;NT GT ./. 2 241666358 . C . . NT END=241667805;NT GT ./. 2 241666418 rs2060194 G A 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KIF1A/NM_004321.6/0;CC=c.3705-61C>T;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.4008-61C>T;VC=Intron;DM=KIF1A/DUF3694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:10:0:0:12,13:413,398:39.51,0.00:9.44,0.00:30.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,5.8:0,0:0,0:106,129:45,19:32,15:NM_001244008.1(KIF1A) c.4008-61C>T,-:0.19,-:NOT_FOUND,- 2 241667830 . C . . NT END=241674135;NT GT ./. 2 241674163 . C . . NT END=241676479;NT GT ./. 2 241674222 rs3755533 T C 180 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.3704+2258A>G;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.4007+2258A>G;VC=Intron;DM=KIF1A/DUF3694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:C:51:25:0:0:51:1562:180.21:58.22:121.99:1.00:1.00:1.00:60:44.8:0:0:98:35:23:NM_001244008.1(KIF1A) c.4007+2258A>G,NM_001244008.1(KIF1A) c.4007+2258A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 2 241676586 . C . . NT END=241679474;NT GT ./. 2 241679560 . C . . NT END=241679714;NT GT ./. 2 241679782 . C . . NT END=241680685;NT GT ./. 2 241680633 rs4414678 G T 62 nt VT=SNV;PN=C;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.3446+53C>A;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.3749+53C>A;VC=Intron;DM=KIF1A/DUF3694;DM=KIF1A/DUF3694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:40:0:0:22,20:636,648:0.00,61.74:0.00,53.52:0.00,8.23:0.00,1.00:0.00,1.00:0.00,0.98:60,60:40.2,43.6:1,0:0,0:25,44:124,105:22,22:-,NM_001244008.1(KIF1A) c.3749+53C>A:-,0.48:-,NOT_FOUND 2 241680644 rs1013225 G C 81 nt VT=SNV;PN=C;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.001;Gene=KIF1A/NM_004321.6/0;CC=c.3446+42C>G;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.3749+42C>G;VC=Intron;DM=KIF1A/DUF3694;DM=KIF1A/DUF3694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:48:46:0:0:26,22:832,615:81.33,0.00:74.69,0.00:6.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,38.6:0,0:0,0:31,55:117,95:19,25:NM_001244008.1(KIF1A) c.3749+42C>G,-:0.22,-:0.261304,- 2 241680795 . C . . NT END=241682345;NT GT ./. 2 241680802 rs56024577 G A 84 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=in-clinvar;PAF=NA;PC=0.152;Gene=KIF1A/NM_004321.6/0;CC=c.3338-8C>T;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.3641-8C>T;VC=Intron;DM=KIF1A/DUF3694 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:23:0:0:28,32:884,974:83.75,0.00:20.36,0.00:63.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,16.0:0,0:0,0:99,88:45,42:25,37:NM_001244008.1(KIF1A) c.3641-8C>T,-:0.28,-:0.185257,- 2 241682402 . C . . NT END=241683358;NT GT ./. 2 241683478 . C . . NT END=241684843;NT GT ./. 2 241684935 . C . . NT END=241685154;NT GT ./. 2 241685327 . C . . NT END=241685455;NT GT ./. 2 241685595 . C . . NT END=241686652;NT GT ./. 2 241685822 rs10196375 C T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.2761-228G>A;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.3064-228G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:0:0:0:2,3:69,73:0.00,7.21:0.00,0.00:0.00,7.21:0.00,0.78:0.00,0.00:0.00,0.78:60,60:5.0,51.7:0,0:0,0:59,107:91,44:26,16:-,NM_001244008.1(KIF1A) c.3064-228G>A:-,0.54:-,NOT_FOUND 2 241686739 . C . . NT END=241689845;NT GT ./. 2 241689648 rs34023634 C T 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.2674+198G>A;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.2977+198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:7:0:0:3,4:96,137:0.00,13.53:0.00,13.53:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:11.0,34.2:0,0:0,0:134,105:17,44:2,36:-,NM_001244008.1(KIF1A) c.2977+198G>A:-,0.11:-,NOT_FOUND 2 241689965 . C . . NT END=241696735;NT GT ./. 2 241696840 rs533559120 ATCC A 92 idl,rn VT=DEL;SST=Single;DP=133;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=63;PC=0.998;Gene=KIF1A/NM_004321.6/0;CC=c.2555+934_2555+936delGGA;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.2751_2753delGGA;ProtCh=p.E917del;VC=InFrameDel;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATCC,C,G,A:132:97:0:49:94,3,1,34:2858,52,10,1114:0.00,1.40,-0.24,92.08:0.00,-0.55,-0.19,54.04:0.00,1.95,-0.06,38.04:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,56,60:14.4,52.7,234.0,12.8:0,0,0,1:0,0,0,0:98,95,128,72:36,54,23,75:32,19,0,17:-,NM_001244008.1(KIF1A) c.2721GGA[10] (p.Glu908[9]):-,NOT_FOUND:-,NOT_FOUND 2 241697012 . C . . NT END=241697776;NT GT ./. 2 241697915 . C . . NT END=241700081;NT GT ./. 2 241699883 rs3772059 A G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.2417+199T>C;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.2444+199T>C;VC=Intron;DM=KIF1A/KIF1B;DM=KIF1A/KIF1B GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,G:7:7:0:0:4,3:115,87:0.00,8.06:0.00,8.06:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,29.0:0,0:0,0:77,12:74,139:41,4:-,NM_001244008.1(KIF1A) c.2444+199T>C:-,0.16:-,NOT_FOUND 2 241700261 . C . . NT END=241700645;NT GT ./. 2 241700795 . C . . NT END=241702135;NT GT ./. 2 241702230 . C . . NT END=241702435;NT GT ./. 2 241702509 . C . . NT END=241702582;NT GT ./. 2 241702561 rs11688298 T A 116 nt VT=SNV;PN=G;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.1922+22A>T;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.1949+22A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:95:70:0:0:45,1,1,48:1229,8,11,1420:116.24,-0.16,-0.09,0.00:64.17,-0.07,0.00,0.00:52.07,-0.09,-0.09,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:49.4,204.0,41.0,7.2:0,0,0,0:0,0,0,0:77,138,136,49:72,13,15,101:33,0,0,27:NM_001244008.1(KIF1A) c.1949+22A>T,-:0.62,-:0.602864,- 2 241702764 . C . . NT END=241705126;NT GT ./. 2 241705211 . C . . NT END=241706331;NT GT ./. 2 241706166 rs71049520 T A 34 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.004;Gene=KIF1A/NM_004321.6/0;CC=c.1657+166A>T;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.1684+166A>T;VC=Intron;DM=KIF1A/FHA;DM=KIF1A/FHA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:15:A,T,I,D:14:14:1:2:10,2,1,1:313,47,34,31:33.54,0.00,2.67,2.37:32.05,0.00,1.32,1.17:1.49,0.00,1.35,1.20:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:0.99,0.00,0.00,0.00:60,60,58,60:76.8,3.5,0.0,0.0:0,0,0,0:0,0,0,0:10,67,30,41:140,64,58,106:7,9,0,0:NM_001244008.1(KIF1A) c.1684+166A>T,-:0.34,-:NOT_FOUND,- 2 241706227 rs11681427 C T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.1657+105G>A;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.1684+105G>A;VC=Intron;DM=KIF1A/FHA;DM=KIF1A/FHA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:18:17:0:0:13,5:405,140:0.00,11.77:0.00,8.49:0.00,3.28:0.00,0.87:0.00,0.99:0.00,0.65:60,60:56.6,63.0:0,0:0,0:67,26:83,123:20,16:-,NM_001244008.1(KIF1A) c.1684+105G>A:-,0.13:-,NOT_FOUND 2 241706439 . C . . NT END=241706682;NT GT ./. 2 241706763 . C . . NT END=241708549;NT GT ./. 2 241706874 rs3821346 C T 46 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.1471-112G>A;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.1498-112G>A;VC=Intron;DM=KIF1A/Kinesin_assoc;DM=KIF1A/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:C,T:20:2:0:0:6,14:159,447:0.00,46.05:0.00,3.72:0.00,42.33:0.00,1.00:0.00,0.92:0.00,1.00:60,60:10.8,34.6:0,0:0,0:17,91:133,59:9,30:-,NM_001244008.1(KIF1A) c.1498-112G>A:-,0.13:-,NOT_FOUND 2 241708626 . C . . NT END=241709043;NT GT ./. 2 241709124 . C . . NT END=241710387;NT GT ./. 2 241710522 . C . . NT END=241711986;NT GT ./. 2 241712014 . C . . NT END=241712530;NT GT ./. 2 241712674 . C . . NT END=241713599;NT GT ./. 2 241713679 . C . . NT END=241715267;NT GT ./. 2 241713808 rs570956380 AC A 10 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2;PC=0.012;Gene=KIF1A/NM_004321.6/0;CC=c.959-131delG;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.959-131delG;VC=Intron;DM=KIF1A/Kinesin;DM=KIF1A/Kinesin;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:AC,A:12:0:0:5:8,4:148,146:0.00,9.80:0.00,0.00:0.00,9.80:0.00,0.79:0.00,0.00:0.00,0.79:60,60:11.5,0.0:0,1:0,0:111,47:33,104:36,39:-,NM_001244008.1(KIF1A) c.959-131delG:-,NOT_FOUND:-,NOT_FOUND 2 241715344 . C . . NT END=241721203;NT GT ./. 2 241721589 . C . . NT END=241722006;NT GT ./. 2 241722025 . C . . NT END=241722460;NT GT ./. 2 241722527 . C . . NT END=241723155;NT GT ./. 2 241722613 rs2288749 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.799-87T>C;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.799-87T>C;VC=Intron;DM=KIF1A/Kinesin;DM=KIF1A/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,C,G:17:4:0:0:12,1,4:352,7,131:0.00,-0.10,11.11:0.00,-0.04,1.40:0.00,-0.06,9.71:0.00,0.00,0.74:0.00,0.00,0.66:0.00,0.00,0.74:60,60,60:8.3,98.0,32.8:0,0,0:0,0,0:103,2,91:42,148,60:39,0,29:-,NM_001244008.1(KIF1A) c.799-87T>C:-,0.55:-,NOT_FOUND 2 241723234 . C . . NT END=241724405;NT GT ./. 2 241724518 . C . . NT END=241725751;NT GT ./. 2 241724715 rs74704222 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.609-198G>A;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.609-198G>A;VC=Intron;DM=KIF1A/Kinesin;DM=KIF1A/Kinesin;DM=KIF1A/DUF3694;DM=KIF1A/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:C,T:14:0:0:0:6,8:160,250:0.00,24.67:0.00,0.00:0.00,24.67:0.00,1.00:0.00,0.00:0.00,1.00:60,60:14.8,37.5:0,0:0,0:110,91:41,59:35,19:-,NM_001244008.1(KIF1A) c.609-198G>A:-,0.16:-,NOT_FOUND 2 241725637 rs74002922 G A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=KIF1A/NM_004321.6/0;CC=c.608+115C>T;VC=Intron;Gene=KIF1A/NM_001244008.1/1;CC=c.608+115C>T;VC=Intron;DM=KIF1A/Kinesin;DM=KIF1A/Kinesin;DM=KIF1A/DUF3694;DM=KIF1A/Kinesin_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:A,G:9:9:0:0:4,5:127,122:11.97,0.00:11.97,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:46.2,21.8:0,0:0,0:82,62:67,89:22,16:NM_001244008.1(KIF1A) c.608+115C>T,-:0.23,-:NOT_FOUND,- 2 241725931 . C . . NT END=241726667;NT GT ./. 2 241726734 . C . . NT END=241727467;NT GT ./. 2 241727648 . C . . NT END=241728652;NT GT ./. 2 241728730 . C . . NT END=241737063;NT GT ./. 2 241737170 . C . . NT END=241808282;NT GT ./. 2 241755566 rs71282124 A AGTGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=5;NP=71;Gene=KIF1A/NM_001244008.1/1;CC=c.-61+3972_-61+3973insACACAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,AGTGTGT:3:3:3:0:1,2:30,102:0.00,6.95:0.00,3.63:0.00,3.33:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,0.0:0,1:0,0:118,42:21,105:0,15:-,NM_001244008.1(KIF1A) c.-61+3972_-61+3973insACACAC:-,NOT_FOUND:-,NOT_FOUND 2 241808314 rs34116584 C T 234 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=139;DB;DBA=in-clinvar;PAF=NA;PC=0.996;Gene=AGXT/NM_000030.2/1;CC=c.32C>T;ProtCh=p.P11L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:139:102:0:0:65,74:2014,2405:0.00,234.05:0.00,134.93:0.00,99.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,39.9:0,0:0,0:77,80:72,67:34,26:-,NM_000030.2(AGXT) c.32C>T (p.Pro11Leu):-,0.11:-,0.155279 2 241808448 . G . . NT END=241808586;NT GT ./. 2 241808463 rs66494441 A G 123 nt VT=SNV;PN=C;NN=C;SST=Single;DP=91;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.165+16A>G;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:91:42:0:0:51,40:1491,1311:0.00,123.12:0.00,21.13:0.00,101.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,57.9:0,0:0,0:81,107:65,42:38,24:-,NM_000030.2(AGXT) c.165+16A>G:-,0.15:-,NOT_FOUND 2 241808531 rs114401766 C T 25 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=NA;PC=0.001;Gene=AGXT/NM_000030.2/1;CC=c.166-56C>T;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,C,T:77:49:0:0:1,65,11:11,1930,335:-0.21,0.00,25.16:-0.07,0.00,-1.08:-0.14,0.00,26.23:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:74.0,19.7,89.9:0,0,0:0,0,0:100,50,106:30,101,30:0,32,18:-,NM_000030.2(AGXT) c.166-56C>T:-,0.05:-,NOT_FOUND 2 241808539 rs372597179 TTGGGGAGG T 23 sb,nt VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=97;Gene=AGXT/NM_000030.2/1;CC=c.166-47_166-40delTGGGGAGG;VC=Intron;DM=AGXT/Aminotran_5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G,TTGGGGAGG,T:84:54:0:11:2,2,69,11:19,18,2095,319:-0.34,-0.38,0.00,23.26:-0.17,-0.43,0.00,0.55:-0.16,0.05,0.00,22.71:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:74.5,110.0,16.8,80.5:0,0,0,0:0,0,0,0:75,21,55,110:59,130,96,22:6,18,37,14:-,NM_000030.2(AGXT) c.166-47_166-40delTGGGGAGG:-,NOT_FOUND:-,NOT_FOUND 2 241808553 rs558570109 A G 24 sb;idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.166-34A>G;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:A,C,G:80:48:0:0:68,1,11:2081,7,321:0.00,-0.30,23.56:0.00,-0.20,-1.74:0.00,-0.11,25.30:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:20.0,145.0,82.9:0,0,11:0,0,0:45,17,116:104,134,16:28,0,14:-,NM_000030.2(AGXT) c.166-34A>G:-,NOT_FOUND:-,NOT_FOUND 2 241808685 rs35698882 C T 106 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.264C>T;ProtCh=p.A88=;VC=Silent;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:99:64:0:0:64,35:2006,1174:0.00,106.17:0.00,57.47:0.00,48.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,52.1:0,0:0,0:76,58:70,82:34,31:-,NM_000030.2(AGXT) c.264C>T (p.(=)):-,0.11:-,0.156466 2 241808780 . G . . NT END=241810060;NT GT ./. 2 241808792 rs34995778 C T 76 nt VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.358+13C>T;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:37:0:0:40,28:1313,829:0.00,76.20:0.00,37.50:0.00,38.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,51.2:0,0:0,0:96,97:53,48:32,21:-,NM_000030.2(AGXT) c.358+13C>T:-,0.11:-,0.156466 2 241809898 rs34134404 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.359-163C>T;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:11:11:0:0:5,6:172,165:0.00,16.03:0.00,16.03:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:22.2,29.5:0,0:0,0:63,77:86,73:51,55:-,NM_000030.2(AGXT) c.359-163C>T:-,0.11:-,NOT_FOUND 2 241810126 . G . . NT END=241810765;NT GT ./. 2 241810867 . G . . NT END=241812395;NT GT ./. 2 241812467 . G . . NT END=241813394;NT GT ./. 2 241812697 rs11687303 G C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=AGXT/NM_000030.2/1;CC=c.595+231G>C;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,G:6:1:0:0:3,3:93,86:8.93,0.00:-0.30,0.00:9.23,0.00:0.73,0.00:0.67,0.00:0.96,0.00:60,60:49.3,70.3:0,0:0,0:115,52:33,99:18,2:NM_000030.2(AGXT) c.595+231G>C,-:0.11,-:NOT_FOUND,- 2 241812795 rs11691745 C G 14 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=23;Gene=AGXT/NM_000030.2/1;CC=c.595+329C>G;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:124:14.31:1.94:12.37:1.00:1.00:1.00:60:42.8:0:0:75:76:30:NM_000030.2(AGXT) c.595+329C>G,NM_000030.2(AGXT) c.595+329C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 2 241813480 . G . . NT END=241814525;NT GT ./. 2 241813496 rs11693280 C T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.680+17C>T;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:14:0:0:16,17:489,516:0.00,49.79:0.00,10.20:0.00,39.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,40.4:0,0:0,0:112,110:34,40:14,20:-,NM_000030.2(AGXT) c.680+17C>T:-,0.11:-,0.156389 2 241814622 . G . . NT END=241815351;NT GT ./. 2 241815307 rs12478859 C T 67 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.777-45C>T;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:37:0:0:19,22:627,689:0.00,67.04:0.00,46.55:0.00,20.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,73.0:0,0:0,0:54,55:87,91:23,13:-,NM_000030.2(AGXT) c.777-45C>T:-,0.22:-,0.307935 2 241815308 rs12464426 A G 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.777-44A>G;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:37:0:0:20,22:631,727:0.00,70.57:0.00,50.45:0.00,20.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,72.7:0,0:0,0:51,56:94,93:33,13:-,NM_000030.2(AGXT) c.777-44A>G:-,0.74:-,0.806935 2 241815422 . G . . NT END=241816953;NT GT ./. 2 241815473 rs12695032 G A 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.846+52G>A;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:8:0:0:15,12:475,383:46.58,0.00:12.22,0.00:34.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,13.6:0,0:0,0:111,101:40,49:25,22:NM_000030.2(AGXT) c.846+52G>A,-:0.39,-:0.426155,- 2 241815591 rs4675793 C T 33 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.846+170C>T;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:1:0:0:9:289:33.19:3.68:29.51:1.00:1.00:1.00:60:54.4:0:0:86:57:38:NM_000030.2(AGXT) c.846+170C>T,NM_000030.2(AGXT) c.846+170C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 2 241817050 . G . . NT END=241817438;NT GT ./. 2 241817272 rs4073370 G T 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=AGXT/NM_000030.2/1;CC=c.943-167G>T;VC=Intron;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:24:18:0:0:9,15:277,414:0.00,41.60:0.00,32.64:0.00,8.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.4,36.1:0,0:0,0:103,95:48,56:37,43:-,NM_000030.2(AGXT) c.943-167G>T:-,0.14:-,NOT_FOUND 2 241817516 rs4426527 A G 125 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=88;DB;DBA=in-clinvar;PAF=NA;PC=1.000;Gene=AGXT/NM_000030.2/1;CC=c.1020A>G;ProtCh=p.I340M;VC=Missense;DM=AGXT/Aminotran_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:88:61:0:0:48,40:1570,1325:0.00,125.28:0.00,53.50:0.00,71.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,45.3:0,0:0,0:44,93:98,56:30,25:-,NM_000030.2(AGXT) c.1020A>G (p.Ile340Met):-,0.14:-,0.159157 2 241817568 . G . . NT END=241818130;NT GT ./. 2 241818239 . C . . NT END=241826486;NT GT ./. 2 241826580 . C . . NT END=241827708;NT GT ./. 2 241826754 rs10933510 G A 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=C2orf54/NM_001282921.1/0;CC=c.805-175C>T;VC=Intron;Gene=C2orf54/NM_024861.3/1;CC=c.748-175C>T;VC=Intron;Gene=C2orf54/NM_001085437.2/0;CC=c.1252-175C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:0:0:0:3,1:90,33:9.45,0.00:0.00,0.00:9.45,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:30.0,0.0:0,0:0,0:135,120:16,30:7,0:NM_001085437.1(C2orf54) c.1252-175C>T,-:0.59,-:NOT_FOUND,- 2 241827676 rs34927891 G A 115 nt VT=SNV;PN=G;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=C2orf54/NM_001282921.1/0;CC=c.804+33C>T;VC=Intron;Gene=C2orf54/NM_024861.3/1;CC=c.747+33C>T;VC=Intron;Gene=C2orf54/NM_001085437.2/0;CC=c.1251+33C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:69:64:0:0:38,31:1178,907:115.25,0.00:89.39,0.00:25.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.4,9.5:0,0:0,0:32,54:117,97:23,30:NM_001085437.1(C2orf54) c.1251+33C>T,-:0.11,-:0.13854,- 2 241827696 rs4675869 A G 133 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=NA;Gene=C2orf54/NM_001282921.1/0;CC=c.804+13T>C;VC=Intron;Gene=C2orf54/NM_024861.3/1;CC=c.747+13T>C;VC=Intron;Gene=C2orf54/NM_001085437.2/0;CC=c.1251+13T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:92:78:0:0:43,1,48:1395,8,1379:0.00,-0.14,133.43:0.00,-0.08,99.38:0.00,-0.06,34.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.1,20.0,59.2:0,0,0:0,0,0:27,134,39:114,17,110:20,0,24:-,NM_001085437.1(C2orf54) c.1251+13T>C:-,0.74:-,0.78246 2 241828034 rs6707568 A G 313 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=NA;PC=1.000;Gene=C2orf54/NM_001282921.1/0;CC=c.479T>C;ProtCh=p.L160P;VC=Missense;Gene=C2orf54/NM_024861.3/1;CC=c.422T>C;ProtCh=p.L141P;VC=Missense;Gene=C2orf54/NM_001085437.2/0;CC=c.926T>C;ProtCh=p.L309P;VC=Missense;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:87:48:0:0:87:2720:313.38:108.54:204.84:1.00:1.00:1.00:60:46.2:0:0:83:61:33:NM_001085437.1(C2orf54) c.926T>C (p.Leu309Pro),NM_001085437.1(C2orf54) c.926T>C (p.Leu309Pro):0.98,0.98:0.986629,0.986629 2 241828066 . C . . NT END=241829421;NT GT ./. 2 241828138 rs35290804 A G 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;PC=0.002;Gene=C2orf54/NM_001282921.1/0;CC=c.448-73T>C;VC=Intron;Gene=C2orf54/NM_024861.3/1;CC=c.391-73T>C;VC=Intron;Gene=C2orf54/NM_001085437.2/0;CC=c.895-73T>C;VC=Intron;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:32:1:0:0:14,1,17:352,11,569:0.00,0.12,55.77:0.00,0.00,1.90:0.00,0.12,53.87:0.00,0.00,1.00:0.00,0.00,0.69:0.00,0.00,1.00:60,60,60:27.4,108.0,60.6:0,0,0:0,0,0:94,13,115:56,138,35:23,0,27:-,NM_001085437.1(C2orf54) c.895-73T>C:-,0.11:-,NOT_FOUND 2 241828311 rs11898716 A G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.001;Gene=C2orf54/NM_001282921.1/0;CC=c.448-246T>C;VC=Intron;Gene=C2orf54/NM_024861.3/1;CC=c.391-246T>C;VC=Intron;Gene=C2orf54/NM_001085437.2/0;CC=c.895-246T>C;VC=Intron;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:135:15.41:2.04:13.37:1.00:1.00:1.00:60:87.5:0:0:105:45:14:NM_001085437.1(C2orf54) c.895-246T>C,NM_001085437.1(C2orf54) c.895-246T>C:0.73,0.73:NOT_FOUND,NOT_FOUND 2 241829576 . C . . NT END=241830954;NT GT ./. 2 241830763 rs4675863 A T 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=C2orf54/NM_001282921.1/0;CC=c.293+192T>A;VC=Intron;Gene=C2orf54/NM_024861.3/1;CC=c.236+192T>A;VC=Intron;Gene=C2orf54/NM_001085437.2/0;CC=c.740+192T>A;VC=Intron;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,T:9:9:0:0:5,4:141,130:0.00,12.24:0.00,12.24:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:2.4,43.5:0,0:0,0:47,31:100,119:23,14:-,NM_001085437.1(C2orf54) c.740+192T>A:-,0.74:-,NOT_FOUND 2 241831181 . C . . NT END=241831289;NT GT ./. 2 241831456 . G . . NT END=241834900;NT GT ./. 2 241831560 rs6724662 A G 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=C2orf54/NM_001085437.2/0;CC=c.515-380T>C;VC=Intron;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:31:3:0:0:14,1,16:431,9,526:0.00,0.02,51.20:0.00,-0.01,4.38:0.00,0.02,46.82:0.00,0.00,1.00:0.00,0.00,0.90:0.00,0.00,1.00:60,60,60:1.9,171.0,40.7:0,0,0:0,0,0:113,69,118:37,82,32:18,0,24:-,NM_001085437.1(C2orf54) c.515-380T>C:-,0.74:-,NOT_FOUND 2 241834770 rs4293565 A G 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.002;Gene=C2orf54/NM_001085437.2/0;CC=c.514+131T>C;VC=Intron;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:27:0:0:17,10:538,331:0.00,30.15:0.00,30.15:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.0,88.0:0,0:0,0:50,36:99,113:26,10:-,NM_001085437.1(C2orf54) c.514+131T>C:-,0.75:-,NOT_FOUND 2 241834830 rs3936204 T G 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=C2orf54/NM_001085437.2/0;CC=c.514+71A>C;VC=Intron;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:65:60:0:0:24,41:719,1272:64.75,0.00:61.34,0.00:3.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.8,11.0:0,0:0,0:48,30:102,118:36,16:NM_001085437.1(C2orf54) c.514+71A>C,-:0.12,-:NOT_FOUND,- 2 241834875 rs3936205 G A 108 nt VT=SNV;PN=C;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=NA;PC=0.010;Gene=C2orf54/NM_001085437.2/0;CC=c.514+26C>T;VC=Intron;DM=C2orf54/Mab-21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:92:82:0:0:36,56:1178,1738:108.30,0.00:95.38,0.00:12.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.1,14.9:0,0:0,0:51,39:96,110:34,25:NM_001085437.1(C2orf54) c.514+26C>T,-:0.21,-:0.167774,- 2 241835574 . G . . NT END=241872286;NT GT ./. 2 241872326 . G . . NT END=241872547;NT GT ./. 2 241872429 rs66946477 TCCAGGGAGGGGCC T 58 nt VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCCAGGGAGGGGCC,T:54:37:0:20:34,20:1053,634:0.00,57.51:0.00,44.38:0.00,13.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,8.8:0,0:0,0:100,66:51,84:41,25:-,XM_003118518.1(LOC728763) c.712-4_720delCCAGGGAGGGGCC:-,0.15:-,NOT_FOUND 2 241872597 rs4441463 A G 240 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=164;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:164:131:0:0:82,82:2769,2507:0.00,240.39:0.00,142.10:0.00,98.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,37.0:0,0:0,0:54,67:96,81:29,34:-,XM_003118518.1(LOC728763) c.875A>G (p.Gln292Arg):-,0.7:-,NOT_FOUND 2 241872760 . G . . NT END=241873086;NT GT ./. 2 241873270 . G . . NT END=241873747;NT GT ./. 2 241873893 . G . . NT END=241874332;NT GT ./. 2 241874076 rs12620108 G A 67 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:6:0:0:19:581:67.13:22.56:44.57:1.00:1.00:1.00:60:39.3:0:0:85:66:43:XM_003118518.1(LOC728763) c.1365+184G>A,XM_003118518.1(LOC728763) c.1365+184G>A:0.3,0.3:NOT_FOUND,NOT_FOUND 2 241874480 . G . . NT END=241874774;NT GT ./. 2 241874559 rs12618707 T C 331 nt VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:89:39:0:0:88,1:2894,6:330.75,0.04:97.75,0.04:233.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,65.0:0,0:0,0:101,132:49,18:29,0:XM_003118518.1(LOC728763) c.1512+80T>C,XM_003118518.1(LOC728763) c.1512+80T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 2 241875006 . G . . NT END=241885476;NT GT ./. 2 241875163 rs10200156 G T 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:433:49.96:0.00:49.96:1.00:0.00:1.00:60:40.3:0:0:133:17:8:XM_003118518.1(LOC728763) c.1743+158G>T,XM_003118518.1(LOC728763) c.1743+158G>T:0.29,0.29:NOT_FOUND,NOT_FOUND 2 241885671 . G . . NT END=241888395;NT GT ./. 2 241888596 . G . . NT END=241888949;NT GT ./. 2 241889120 . G . . NT END=241889750;NT GT ./. 2 241889934 . G . . NT END=241895275;NT GT ./. 2 241895390 . G . . NT END=241897375;NT GT ./. 2 241897603 . G . . NT END=241897951;NT GT ./. 2 241898031 . G . . NT END=241898717;NT GT ./. 2 241898862 . G . . NT END=241902972;NT GT ./. 2 241902718 rs6733049 C G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=LOC200772/NR_033841.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G:4:4:0:0:1,3:35,73:0.00,7.70:0.00,7.70:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,27.3:0,0:0,0:28,24:122,126:0,9:-,NR_033841.1(LOC200772) n.759G>C:-,0.7:-,NOT_FOUND 2 241903191 . G . . NT END=241903882;NT GT ./. 2 241904001 rs11688859 G C 280 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=NA;Gene=LOC200772/NR_033841.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:174:114:0:1:92,82:2884,2724:279.79,0.00:121.93,0.00:157.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,6.4:0,0:0,0:92,70:53,73:35,34:XM_003118518.1(LOC728763) c.3391G>C (p.Gly1131Arg),-:0.7,-:NOT_FOUND,- 2 241904043 . G . . NT END=241904797;NT GT ./. 2 241904498 rs10432571 G C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=LOC200772/NR_033841.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,G:5:5:0:0:4,1:141,28:14.92,0.00:14.92,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:43.8,21.0:0,0:0,0:18,29:131,122:7,0:NR_033841.1(LOC200772) n.126-905C>G,-:0.35,-:NOT_FOUND,- 2 241904936 . G . . NT END=241905052;NT GT ./. 2 241905411 . G . . NT END=241905481;NT GT ./. 2 241905526 . G . . NT END=241906940;NT GT ./. 2 241905591 rs13395609 T C 71 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=NA;Gene=LOC200772/NR_033841.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:11:0:0:21,15:712,454:70.60,0.00:9.80,0.00:60.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,4.2:0,0:0,0:117,122:30,28:16,21:NR_033841.1(LOC200772) n.125+1153A>G,-:0.16,-:NOT_FOUND,- 2 241906990 . G . . NT END=241907545;NT GT ./. 2 241907680 . G . . NT END=241922296;NT GT ./. 2 241922447 . G . . NT END=241922842;NT GT ./. 2 241922996 . G . . NT END=241928155;NT GT ./. 2 241928288 . G . . NT END=241929070;NT GT ./. 2 241929228 rs10200024 A G 132 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:100:50:0:0:54,1,45:1747,9,1406:0.00,-0.16,132.40:0.00,-0.07,50.17:0.00,-0.09,82.23:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.9,20.0,41.2:0,0,0:0,0,0:92,112,81:49,39,66:28,0,28:-,XR_108453.1(LOC728208) n.-3714T>C:-,0.78:-,NOT_FOUND 2 241929251 . G . . NT END=241930612;NT GT ./. 2 241930700 . G . . NT END=241938254;NT GT ./. 2 241938468 . G . . NT END=241969700;NT GT ./. 2 241969989 . G . . NT END=241973151;NT GT ./. 2 241973293 . G . . NT END=241973984;NT GT ./. 2 241974148 . G . . NT END=241976206;NT GT ./. 2 241974289 rs2074822 G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.805+142G>A;VC=Intron;DM=SNED1/EGF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:0:0:0:13,14:416,413:39.71,0.00:0.00,0.00:39.71,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.2,23.8:0,0:0,0:100,111:51,40:33,26:NM_001080437.1(SNED1) c.805+142G>A,-:0.64,-:NOT_FOUND,- 2 241976333 . G . . NT END=241976656;NT GT ./. 2 241976615 rs397870367 CG C 55 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=780;Gene=SNED1/NM_001080437.1/1;CC=c.932-39delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,C:46:38:0:20:26,20:778,590:0.00,54.89:0.00,32.34:0.00,22.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,16.0:0,0:0,0:61,56:90,94:33,24:-,NM_001080437.1(SNED1) c.932-41delG:-,0.2:-,0.301019 2 241976771 . G . . NT END=241979491;NT GT ./. 2 241979550 rs7571117 T C 126 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.1104T>C;ProtCh=p.N368=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:82:64:0:0:41,41:1313,1336:126.13,0.00:82.99,0.00:43.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,8.1:0,0:0,0:68,79:69,69:38,35:NM_001080437.1(SNED1) c.1104T>C (p.(=)),-:0.44,-:0.530388,- 2 241979606 . G . . NT END=241979716;NT GT ./. 2 241979831 . G . . NT END=241987731;NT GT ./. 2 241987554 rs7590504 G A 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.013;Gene=SNED1/NM_001080437.1/1;CC=c.1274-178G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:14:0:0:8,6:263,203:25.96,0.00:25.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.6,13.5:0,0:0,0:28,18:122,132:15,7:NM_001080437.1(SNED1) c.1274-178G>A,-:0.2,-:NOT_FOUND,- 2 241987858 . G . . NT END=241988078;NT GT ./. 2 241988184 . G . . NT END=241988438;NT GT ./. 2 241988553 . G . . NT END=241989233;NT GT ./. 2 241989351 . G . . NT END=241991160;NT GT ./. 2 241991029 rs10206324 A G 27 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.1736-132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:24:0:0:14,11:430,297:0.00,27.41:0.00,26.11:0.00,1.30:0.00,1.00:0.00,1.00:0.00,0.63:60,60:25.6,53.2:0,0:0,0:62,43:88,104:37,18:-,NM_001080437.1(SNED1) c.1736-132A>G:-,0.65:-,NOT_FOUND 2 241991278 . G . . NT END=241991457;NT GT ./. 2 241991575 . G . . NT END=241991771;NT GT ./. 2 241991886 . G . . NT END=241992569;NT GT ./. 2 241992016 rs13031812 A G 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.2083+131A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G,T:5:0:0:0:1,3,1:33,97,10:0.00,10.07,0.70:0.00,0.00,0.00:0.00,10.07,0.70:0.00,0.78,0.00:0.00,0.00,0.00:0.00,0.78,0.00:60,60,60:0.0,91.3,41.0:0,0,0:0,0,0:134,90,81:17,51,70:0,15,0:-,NM_001080437.1(SNED1) c.2083+131A>G:-,0.65:-,NOT_FOUND 2 241992744 . G . . NT END=242002207;NT GT ./. 2 242001991 rs10178146 A G 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.2258-217A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G:7:7:0:0:2,5:59,92:0.00,9.55:0.00,9.55:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:8.5,63.2:0,0:0,0:63,13:78,138:60,7:-,NM_001080437.1(SNED1) c.2258-217A>G:-,0.65:-,NOT_FOUND 2 242002322 . G . . NT END=242003003;NT GT ./. 2 242002828 rs7581709 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.2372-176C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:8:8:0:0:2,6:65,163:0.00,17.17:0.00,17.17:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,45.8:0,0:0,0:46,52:104,98:10,49:-,NM_001080437.1(SNED1) c.2372-176C>T:-,0.65:-,NOT_FOUND 2 242003118 . G . . NT END=242003428;NT GT ./. 2 242003543 . G . . NT END=242004259;NT GT ./. 2 242003558 rs34771867 T C 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.2599+16T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:20:0:0:20,23:596,744:56.23,0.00:18.41,0.00:37.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,9.4:0,0:0,0:103,102:45,48:26,23:NM_001080437.1(SNED1) c.2599+16T>C,-:0.67,-:0.621042,- 2 242004199 rs2286319 G C 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.2600-61G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,G:15:14:0:0:9,6:293,163:29.23,0.00:24.68,0.00:4.55,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:34.7,9.5:0,0:0,0:34,26:115,124:23,19:NM_001080437.1(SNED1) c.2600-61G>C,-:0.6,-:NOT_FOUND,- 2 242004219 rs397749876 T TG 79 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2078;Gene=SNED1/NM_001080437.1/1;CC=c.2600-40dupG;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:T,TG:23:20:22:0:1,22:32,702:0.00,78.90:0.00,54.13:0.00,24.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.0,17.6:0,0:0,0:129,43:2,107:0,24:NM_001080437.1(SNED1) c.2600-41_2600-40insG,NM_001080437.1(SNED1) c.2600-41_2600-40insG:1,1:0.998272,0.998272 2 242004374 . G . . NT END=242004714;NT GT ./. 2 242005012 . G . . NT END=242007178;NT GT ./. 2 242007363 . G . . NT END=242008325;NT GT ./. 2 242007465 rs5839780 AC A 23 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=49;Gene=SNED1/NM_001080437.1/1;CC=c.3194+105delC;VC=Intron;DM=SNED1/fn3;DM=SNED1/fn3;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:22:3:0:9:13,9:390,249:0.00,22.73:0.00,4.87:0.00,17.86:0.00,1.00:0.00,0.81:0.00,1.00:60,60:25.2,30.8:0,0:0,0:79,117:71,34:32,13:-,NM_001080437.1(SNED1) c.3194+104delC:-,0.32:-,NOT_FOUND 2 242008439 . G . . NT END=242009334;NT GT ./. 2 242009273 rs13000549 G T 125 nt VT=SNV;PN=C;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.3308-62G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:89:81:0:0:50,39:1562,1332:0.00,125.39:0.00,80.47:0.00,44.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,38.9:0,0:0,0:39,47:109,104:21,25:-,NM_001080437.1(SNED1) c.3308-62G>T:-,0.14:-,NOT_FOUND 2 242009617 . G . . NT END=242010990;NT GT ./. 2 242011136 . G . . NT END=242011210;NT GT ./. 2 242011151 rs6760731 A G 237 nt VT=SNV;PN=C;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=1217;Gene=SNED1/NM_001080437.1/1;CC=c.3734+16A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:66:16:0:0:66:2060:237.29:46.92:190.37:1.00:1.00:1.00:60:51.2:0:0:57:89:36:NM_001080437.1(SNED1) c.3734+16A>G,NM_001080437.1(SNED1) c.3734+16A>G:1,1:0.999571,0.999571 2 242011294 . G . . NT END=242012680;NT GT ./. 2 242011330 rs6746124 C A 139 nt VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=SNED1/NM_001080437.1/1;CC=c.3817+37C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:93:A,C:43:14:0:0:42,1:1208,25:138.62,0.00:27.00,0.00:111.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,149.0:0,0:0,0:101,89:43,31:24,0:NM_001080437.1(SNED1) c.3817+37C>A,NM_001080437.1(SNED1) c.3817+37C>A:0.5,0.5:0.525717,0.525717 2 242012780 . G . . NT END=242021091;NT GT ./. 2 242021209 . G . . NT END=242021691;NT GT ./. 2 242021501 rs113835492 C T 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=22;Gene=SNED1/NM_001080437.1/1;CC=c.4034-191C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:13:11:0:0:4,9:122,260:0.00,26.76:0.00,19.22:0.00,7.54:0.00,1.00:0.00,1.00:0.00,0.92:60,60:4.8,71.6:0,0:0,0:75,89:74,62:12,51:-,NM_001080437.1(SNED1) c.4034-191C>T:-,0.0018:-,NOT_FOUND 2 242021780 . G . . NT END=242026806;NT GT ./. 2 242027088 . G . . NT END=242027779;NT GT ./. 2 242027817 . G . . NT END=242035412;NT GT ./. 2 242035854 . C . . NT END=242036657;NT GT ./. 2 242036843 . C . . NT END=242038810;NT GT ./. 2 242039310 . C . . NT END=242041667;NT GT ./. 2 242041466 rs67434424 C CAA 46 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.021;Gene=MTERF4/NR_028049.1/0;VC=NonCoding;Gene=MTERF4/NR_028050.1/0;VC=NonCoding;Gene=MTERF4/NR_028051.1/0;VC=NonCoding;Gene=MTERF4/NM_182501.3/1;CC=c.21+201_21+202insTT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:C,CAA:17:21:19:0:3,14:105,592:0.00,46.01:0.00,43.13:0.00,2.88:0.00,1.00:0.00,1.00:0.00,0.76:60,60:13.7,19.9:0,5:0,0:101,48:13,103:40,30:-,NM_182501.3(MTERFD2) c.21+201_21+202insTT:-,NOT_FOUND:-,NOT_FOUND 2 242041689 . A . . NT END=242045980;NT GT ./. 2 242046139 . C . . NT END=242046767;NT GT ./. 2 242046915 . C . . NT END=242047581;NT GT ./. 2 242047716 . C . . NT END=242051654;NT GT ./. 2 242051855 . C . . NT END=242053049;NT GT ./. 2 242053546 rs17382723 C G 157 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.3354+891G>C;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.3228+912G>C;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.3333+912G>C;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.3333+912G>C;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.*813G>C;VC=3UTR;DM=PASK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:93:53:0:0:43,49,1:1383,1616,7:0.00,157.38,-0.16:0.00,68.93,-0.11:0.00,88.44,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.7,36.2,36.0:0,0,0:0,0,0:95,79,79:55,69,72:38,35,0:-,NM_001252119.1(PASK) c.3354+891G>C:-,0.13:-,NOT_FOUND 2 242053613 rs397844232 C CT 111 rn VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;Gene=PASK/NM_001252119.1/0;CC=c.3354+823dupA;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.3228+844dupA;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.3333+844dupA;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.3333+844dupA;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.*745dupA;VC=3UTR;DM=PASK/Pkinase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT:88:53:38:0:49,1,38:1546,7,1186:0.00,-0.19,110.86:0.00,-0.07,48.48:0.00,-0.12,62.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.8,17.0,8.6:0,1,0:0,0,0:82,57,61:68,93,89:38,0,33:-,NM_001252119.1(PASK) c.3354+823_3354+824insA:-,0.2:-,NOT_FOUND 2 242053823 rs10187363 C T 175 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.3354+614G>A;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.3228+635G>A;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.3333+635G>A;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.3333+635G>A;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.*536G>A;VC=3UTR;DM=PASK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:62:0:0:46,55:1486,1791:0.00,175.14:0.00,86.75:0.00,88.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,37.0:0,0:0,0:72,84:72,64:31,29:-,NM_001252119.1(PASK) c.3354+614G>A:-,0.35:-,NOT_FOUND 2 242054593 . C . . NT END=242054702;NT GT ./. 2 242054829 . C . . NT END=242062146;NT GT ./. 2 242058214 rs13415659 A G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.999;Gene=PASK/NM_001252119.1/0;CC=c.3073-3386T>C;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.2968-3386T>C;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.3073-3386T>C;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.3073-3386T>C;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.3073-3386T>C;VC=Intron;DM=PASK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G,T:9:9:0:0:4,4,1:124,119,8:0.00,11.36,0.22:0.00,9.50,0.22:0.00,1.86,0.00:0.00,0.85,0.00:0.00,0.85,0.00:0.00,0.63,0.00:60,60,60:46.0,29.8,22.0:0,0,0:0,0,0:34,91,38:116,59,113:9,16,0:-,NM_001252119.1(PASK) c.3073-3386T>C:-,0.55:-,NOT_FOUND 2 242062130 rs2302049 C G 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.3072+17G>C;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.2967+17G>C;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.3072+17G>C;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.3072+17G>C;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.3072+17G>C;VC=Intron;DM=PASK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:72:61:0:0:41,30,1:1305,866,31:0.00,79.77,1.48:0.00,58.31,1.55:0.00,21.46,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:18.6,47.6,64.0:1,0,0:0,0,0:55,71,97:96,79,54:32,30,0:-,NM_001252119.1(PASK) c.3072+17G>C:-,0.13:-,0.189835 2 242062315 . C . . NT END=242063363;NT GT ./. 2 242063235 . GA G 12 idl,rn VT=DEL;SST=Single;DP=21;NP=2;PC=0.023;Gene=PASK/NM_001252119.1/0;CC=c.2904+128delT;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.2799+128delT;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.2904+128delT;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.2904+128delT;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.2904+128delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:GA,I,G:19:21:1:7:13,1,5:440,28,205:0.00,1.68,12.33:0.00,1.68,12.33:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,60:11.6,35.0,23.0:0,0,2:0,0,0:76,10,77:74,137,73:62,0,25:-,NM_001252119.1(PASK) c.2904+128delT:-,NOT_FOUND:-,NOT_FOUND 2 242063549 . C . . NT END=242065610;NT GT ./. 2 242065601 rs75080735 C T 146 nt VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.2719+10G>A;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.2614+10G>A;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.2719+10G>A;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.2719+10G>A;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.2719+10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:99:92:0:0:51,48:1567,1534:0.00,146.45:0.00,108.73:0.00,37.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,41.9:0,0:0,0:45,80:104,70:27,29:-,NM_001252119.1(PASK) c.2719+10G>A:-,0.14:-,0.195986 2 242066314 rs2240542 T C 349 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=211;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.2016A>G;ProtCh=p.A672=;VC=Silent;Gene=PASK/NM_001252122.1/0;CC=c.1911A>G;ProtCh=p.A637=;VC=Silent;Gene=PASK/NM_015148.3/0;CC=c.2016A>G;ProtCh=p.A672=;VC=Silent;Gene=PASK/NM_001252120.1/1;CC=c.2016A>G;ProtCh=p.A672=;VC=Silent;Gene=PASK/NM_001252124.1/0;CC=c.2016A>G;ProtCh=p.A672=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:211:132:0:0:116,95:3568,3151:348.87,0.00:191.19,0.00:157.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,4.4:0,0:0,0:64,75:82,71:40,46:NM_001252119.1(PASK) c.2016A>G (p.(=)),-:0.39,-:0.395894,- 2 242066867 . C . . NT END=242072288;NT GT ./. 2 242072280 rs11684830 G A 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PASK/NM_001252119.1/0;CC=c.1463+9C>T;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.1358+9C>T;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.1463+9C>T;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.1463+9C>T;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.1463+9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:61:0:0:29,37:958,1223:89.96,0.00:58.06,0.00:31.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,5.4:0,0:0,0:49,57:93,82:24,28:NM_001252119.1(PASK) c.1463+9C>T,-:0.24,-:0.350069,- 2 242072446 . C . . NT END=242075285;NT GT ./. 2 242075147 rs34345561 A AC 20 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=510;Gene=PASK/NM_001252119.1/0;CC=c.1306+138dupG;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.1201+138dupG;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.1306+138dupG;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.1306+138dupG;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.1306+138dupG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AC:16:16:7:0:9,7:260,215:0.00,20.10:0.00,20.10:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:25.0,34.6:0,0:0,0:47,36:102,115:29,22:-,NM_001252119.1(PASK) c.1306+138_1306+139insG:-,0.3:-,NOT_FOUND 2 242075192 rs2108484 A G 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.1306+94T>C;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.1201+94T>C;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.1306+94T>C;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.1306+94T>C;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.1306+94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:34:32:0:0:19,1,14:597,11,414:0.00,0.05,38.28:0.00,0.07,31.75:0.00,-0.02,6.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.92:60,60,60:11.4,195.0,40.7:0,0,0:0,0,0:30,92,33:121,57,117:21,0,26:-,NM_001252119.1(PASK) c.1306+94T>C:-,0.61:-,NOT_FOUND 2 242075455 . C . . NT END=242076418;NT GT ./. 2 242075623 rs2074825 A G 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.1138-169T>C;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.1033-169T>C;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.1138-169T>C;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.1138-169T>C;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.1138-169T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:A,G:13:0:0:0:9,4:303,129:0.00,11.32:0.00,0.00:0.00,11.32:0.00,0.79:0.00,0.00:0.00,0.79:60,60:5.2,55.0:0,0:0,0:101,91:50,52:14,22:-,NM_001252119.1(PASK) c.1138-169T>C:-,0.3:-,NOT_FOUND 2 242075767 rs1468471 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.1138-313A>G;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.1033-313A>G;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.1138-313A>G;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.1138-313A>G;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.1138-313A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:137:15.61:0.00:15.61:1.00:0.00:1.00:60:74.5:0:0:97:53:20:NM_001252119.1(PASK) c.1138-313A>G,NM_001252119.1(PASK) c.1138-313A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 2 242076680 . C . . NT END=242077367;NT GT ./. 2 242076944 rs7568414 G A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.877-265C>T;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.772-265C>T;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.877-265C>T;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.877-265C>T;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.877-265C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:4:0:0:0:3,1:103,33:10.75,0.00:0.00,0.00:10.75,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:38.3,12.0:0,0:0,0:127,115:24,36:1,0:NM_001252119.1(PASK) c.877-265C>T,-:0.25,-:NOT_FOUND,- 2 242077496 rs1470414 C T 107 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=0.003;Gene=PASK/NM_001252119.1/0;CC=c.748G>A;ProtCh=p.V250I;VC=Missense;Gene=PASK/NM_001252122.1/0;CC=c.742-99G>A;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.748G>A;ProtCh=p.V250I;VC=Missense;Gene=PASK/NM_001252120.1/1;CC=c.748G>A;ProtCh=p.V250I;VC=Missense;Gene=PASK/NM_001252124.1/0;CC=c.748G>A;ProtCh=p.V250I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:90:55:0:0:53,1,36:1674,12,1154:0.00,-0.08,106.52:0.00,0.07,43.80:0.00,-0.15,62.72:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.4,69.0,36.7:0,0,0:0,0,0:81,145,68:62,6,68:37,0,34:-,NM_001252119.1(PASK) c.748G>A (p.Val250Ile):-,0.25:-,0.293403 2 242077503 . C . . NT END=242078068;NT GT ./. 2 242077685 rs1470413 G A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.742-183C>T;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.742-288C>T;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.742-183C>T;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.742-183C>T;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.742-183C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:2:0:0:9,8:297,249:28.89,0.00:-0.65,0.00:29.54,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:41.2,31.0:0,0:0,0:95,94:56,47:21,11:NM_001252119.1(PASK) c.742-183C>T,-:0.2,-:NOT_FOUND,- 2 242078210 . C . . NT END=242079299;NT GT ./. 2 242079233 rs10933531 T C 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.600+67A>G;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.600+67A>G;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.600+67A>G;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.600+67A>G;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.600+67A>G;VC=Intron;DM=PASK/PAS_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:38:0:0:19,25:601,865:56.09,0.00:41.99,0.00:14.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,8.7:0,0:0,0:62,41:87,95:27,26:NM_001252119.1(PASK) c.600+67A>G,-:0.61,-:NOT_FOUND,- 2 242079471 . C . . NT END=242079935;NT GT ./. 2 242080169 . C . . NT END=242082251;NT GT ./. 2 242082222 rs2074834 C A 80 nt VT=SNV;PN=G;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.196+30G>T;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.196+30G>T;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.196+30G>T;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.196+30G>T;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.196+30G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:54:51:0:0:28,26:826,842:79.64,0.00:65.20,0.00:14.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.6,8.8:0,0:0,0:32,37:117,105:26,29:NM_001252119.1(PASK) c.196+30G>T,-:0.2,-:0.279025,- 2 242082262 rs6709462 T C 112 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.186A>G;ProtCh=p.T62=;VC=Silent;Gene=PASK/NM_001252122.1/0;CC=c.186A>G;ProtCh=p.T62=;VC=Silent;Gene=PASK/NM_015148.3/0;CC=c.186A>G;ProtCh=p.T62=;VC=Silent;Gene=PASK/NM_001252120.1/1;CC=c.186A>G;ProtCh=p.T62=;VC=Silent;Gene=PASK/NM_001252124.1/0;CC=c.186A>G;ProtCh=p.T62=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:62:0:0:37,31:1143,1072:111.50,0.00:84.01,0.00:27.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.5,4.9:0,0:0,0:44,59:107,92:20,25:NM_001252119.1(PASK) c.186A>G (p.(=)),-:0.6,-:0.456866,- 2 242082448 . G . . NT END=242089119;NT GT ./. 2 242082480 rs758068 A C 118 nt VT=SNV;PN=A;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.-33T>G;VC=5UTR;Gene=PASK/NM_001252122.1/0;CC=c.-33T>G;VC=5UTR;Gene=PASK/NM_015148.3/0;CC=c.-33T>G;VC=5UTR;Gene=PASK/NM_001252120.1/1;CC=c.-33T>G;VC=5UTR;Gene=PASK/NM_001252124.1/0;CC=c.-33T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:69:23:0:0:31,38:864,1201:0.00,117.66:0.00,25.56:0.00,92.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,52.8:0,0:0,0:109,98:34,47:27,25:-,NM_001252119.1(PASK) c.-33T>G:-,0.38:-,0.422113 2 242082559 rs2066941 T C 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.-42-70A>G;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.-42-70A>G;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.-42-70A>G;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.-42-70A>G;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.-42-70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:0:0:0:19,13:651,406:64.78,0.00:0.00,0.00:64.78,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:74.7,6.7:0,0:0,0:120,111:31,39:22,28:NM_001252119.1(PASK) c.-42-70A>G,-:0.38,-:NOT_FOUND,- 2 242082628 rs758069 A G 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252119.1/0;CC=c.-42-139T>C;VC=Intron;Gene=PASK/NM_001252122.1/0;CC=c.-42-139T>C;VC=Intron;Gene=PASK/NM_015148.3/0;CC=c.-42-139T>C;VC=Intron;Gene=PASK/NM_001252120.1/1;CC=c.-42-139T>C;VC=Intron;Gene=PASK/NM_001252124.1/0;CC=c.-42-139T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:13:0:0:0:6,7:194,242:0.00,23.64:0.00,0.00:0.00,23.64:0.00,0.99:0.00,0.00:0.00,0.99:60,60:1.7,73.0:0,0:0,0:101,94:49,57:5,25:-,NM_001252119.1(PASK) c.-42-139T>C:-,0.38:-,NOT_FOUND 2 242088921 rs3806599 A C 64 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=PASK/NM_001252120.1/1;CC=c.-43+102T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:557:63.80:63.80:0.00:1.00:1.00:0.00:60:43.4:0:0:54:96:25:NM_001252119.1(PASK) c.-133-u2T>G,NM_001252119.1(PASK) c.-133-u2T>G:0.81,0.81:NOT_FOUND,NOT_FOUND 2 242089450 rs7596642 G A 225 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=151;DB;DBA=NA;PAF=NA;PC=0.872;Gene=PPP1R7/NM_001282414.1/0;CC=c.4+327G>A;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.4+327G>A;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.4+327G>A;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.-461G>A;VC=5UTR;Gene=PPP1R7/NM_001282411.1/0;CC=c.-461G>A;VC=5UTR;Gene=PPP1R7/NM_001282409.1/0;CC=c.-461G>A;VC=5UTR;Gene=PPP1R7/NM_002712.2/1;CC=c.-461G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:151:97:0:0:74,77:2349,2490:224.62,0.00:107.84,0.00:116.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.6,9.9:0,0:0,0:56,75:87,73:36,39:NM_001252119.1(PASK) c.-133-u531C>T,-:0.2,-:NOT_FOUND,- 2 242089573 rs7584799 A G 186 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=NA;Gene=PPP1R7/NM_001282414.1/0;CC=c.4+450A>G;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.4+450A>G;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.4+450A>G;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.-338A>G;VC=5UTR;Gene=PPP1R7/NM_001282411.1/0;CC=c.-338A>G;VC=5UTR;Gene=PPP1R7/NM_001282409.1/0;CC=c.-338A>G;VC=5UTR;Gene=PPP1R7/NM_002712.2/1;CC=c.-338A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:129:71:0:0:67,62:2124,1950:0.00,185.75:0.00,73.58:0.00,112.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,49.0:0,0:0,0:70,71:80,77:34,45:-,NM_001252119.1(PASK) c.-133-u654T>C:-,0.21:-,NOT_FOUND 2 242089963 . G . . NT END=242092890;NT GT ./. 2 242093020 . G . . NT END=242097221;NT GT ./. 2 242093144 rs11884809 T C 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.002;Gene=PPP1R7/NM_001282414.1/0;CC=c.4+4021T>C;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.133+125T>C;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.4+4021T>C;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.181+125T>C;VC=Intron;Gene=PPP1R7/NM_001282411.1/0;CC=c.52+3182T>C;VC=Intron;Gene=PPP1R7/NM_001282409.1/0;CC=c.52+3182T>C;VC=Intron;Gene=PPP1R7/NM_002712.2/1;CC=c.181+125T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:3:0:0:20,20:615,622:58.98,0.00:2.67,0.00:56.31,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:37.5,14.9:0,0:0,0:113,87:35,63:29,35:NM_002712.1(PPP1R7) c.181+125T>C,-:0.55,-:NOT_FOUND,- 2 242097278 . G . . NT END=242097898;NT GT ./. 2 242097965 . G . . NT END=242098627;NT GT ./. 2 242098219 rs56305838 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=PPP1R7/NM_001282414.1/0;CC=c.126+255G>A;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.255+255G>A;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.126+255G>A;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.303+255G>A;VC=Intron;Gene=PPP1R7/NM_001282411.1/0;CC=c.174+255G>A;VC=Intron;Gene=PPP1R7/NM_001282409.1/0;CC=c.174+255G>A;VC=Intron;Gene=PPP1R7/NM_002712.2/1;CC=c.303+255G>A;VC=Intron;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:6:0:0:0:3,3:104,96:10.03,0.00:0.00,0.00:10.03,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:34.7,0.0:0,0:0,0:137,91:13,60:8,56:NM_002712.1(PPP1R7) c.303+255G>A,-:0.2,-:NOT_FOUND,- 2 242098426 rs6753081 T A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=PPP1R7/NM_001282414.1/0;CC=c.127-202T>A;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.256-202T>A;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.127-202T>A;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.304-202T>A;VC=Intron;Gene=PPP1R7/NM_001282411.1/0;CC=c.175-202T>A;VC=Intron;Gene=PPP1R7/NM_001282409.1/0;CC=c.175-202T>A;VC=Intron;Gene=PPP1R7/NM_002712.2/1;CC=c.304-202T>A;VC=Intron;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,T:8:8:0:0:7,1:242,36:26.23,0.00:26.23,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.3,0.0:0,0:0,0:39,121:109,30:10,0:NM_002712.1(PPP1R7) c.304-202T>A,-:0.55,-:NOT_FOUND,- 2 242098759 . G . . NT END=242099746;NT GT ./. 2 242099028 rs56237707 G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=PPP1R7/NM_001282414.1/0;CC=c.257+270G>A;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.386+270G>A;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.257+270G>A;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.434+270G>A;VC=Intron;Gene=PPP1R7/NM_001282411.1/0;CC=c.305+270G>A;VC=Intron;Gene=PPP1R7/NM_001282409.1/0;CC=c.305+270G>A;VC=Intron;Gene=PPP1R7/NM_002712.2/1;CC=c.434+270G>A;VC=Intron;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:6:0:0:0:4,2:139,65:14.15,0.00:0.00,0.00:14.15,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:36.2,0.0:0,0:0,0:64,124:85,26:22,17:NM_002712.1(PPP1R7) c.434+270G>A,-:0.2,-:NOT_FOUND,- 2 242099910 . G . . NT END=242102699;NT GT ./. 2 242099961 rs2017989 C T 147 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=3426;Gene=PPP1R7/NM_001282414.1/0;CC=c.420+52C>T;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.549+52C>T;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.420+52C>T;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.597+52C>T;VC=Intron;Gene=PPP1R7/NM_001282411.1/0;CC=c.468+52C>T;VC=Intron;Gene=PPP1R7/NM_001282409.1/0;CC=c.468+52C>T;VC=Intron;Gene=PPP1R7/NM_002712.2/1;CC=c.597+52C>T;VC=Intron;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:15:0:0:40:1280:147.06:33.84:113.22:1.00:1.00:1.00:60:41.5:0:0:102:48:26:NM_002712.1(PPP1R7) c.597+52C>T,NM_002712.1(PPP1R7) c.597+52C>T:0.99,0.99:0.979098,0.979098 2 242100062 rs11676460 A G 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;Gene=PPP1R7/NM_001282414.1/0;CC=c.420+153A>G;VC=Intron;Gene=PPP1R7/NM_001282412.1/0;CC=c.549+153A>G;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.420+153A>G;VC=Intron;Gene=PPP1R7/NM_001282410.1/0;CC=c.597+153A>G;VC=Intron;Gene=PPP1R7/NM_001282411.1/0;CC=c.468+153A>G;VC=Intron;Gene=PPP1R7/NM_001282409.1/0;CC=c.468+153A>G;VC=Intron;Gene=PPP1R7/NM_002712.2/1;CC=c.597+153A>G;VC=Intron;DM=PPP1R7/LRR_9;DM=PPP1R7/LRR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:16:0:0:0:6,10:175,323:0.00,32.49:0.00,0.00:0.00,32.49:0.00,1.00:0.00,0.00:0.00,1.00:60,60:29.5,49.7:0,0:0,0:105,92:45,57:22,19:-,NM_002712.1(PPP1R7) c.597+153A>G:-,0.18:-,NOT_FOUND 2 242102817 . G . . NT END=242105751;NT GT ./. 2 242105857 . G . . NT END=242106459;NT GT ./. 2 242106590 . t . . NT END=242109195;NT GT ./. 2 242109283 . G . . NT END=242122061;NT GT ./. 2 242121959 rs34186191 G A 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=PPP1R7/NM_001282412.1/0;CC=c.859-103G>A;VC=Intron;Gene=PPP1R7/NM_001282413.1/0;CC=c.730-103G>A;VC=Intron;Gene=PPP1R7/NM_001282409.1/0;CC=c.778-103G>A;VC=Intron;Gene=PPP1R7/NM_002712.2/1;CC=c.907-103G>A;VC=Intron;DM=PPP1R7/LRR_9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:30:0:0:15,15:487,454:46.80,0.00:44.97,0.00:1.84,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:56.8,5.3:0,0:0,0:61,62:87,89:21,41:NM_002712.1(PPP1R7) c.907-103G>A,-:0.26,-:NOT_FOUND,- 2 242122239 . G . . NT END=242128026;NT GT ./. 2 242122391 rs3868 T C 48 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.008;Gene=PPP1R7/NM_001282412.1/0;CC=c.*153T>C;VC=3UTR;Gene=PPP1R7/NM_001282413.1/0;CC=c.*153T>C;VC=3UTR;Gene=PPP1R7/NM_001282409.1/0;CC=c.*153T>C;VC=3UTR;Gene=PPP1R7/NM_002712.2/1;CC=c.*153T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:418:48.42:0.00:48.42:1.00:0.00:1.00:60:36.7:0:0:64:87:14:NM_002712.1(PPP1R7) c.=,NM_002712.1(PPP1R7) c.=:0.83,0.83:NOT_FOUND,NOT_FOUND 2 242128182 . G . . NT END=242129471;NT GT ./. 2 242128416 rs11694278 G A 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001666.3/0;CC=c.155+235G>A;VC=Intron;Gene=ANO7/NM_001001891.3/1;CC=c.155+235G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:9:0:0:0:6,3:169,93:17.27,0.00:0.00,0.00:17.27,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:57.0,31.7:0,0:0,0:108,111:43,40:13,29:NM_001001891.3(ANO7) c.155+235G>A,-:0.27,-:NOT_FOUND,- 2 242128447 rs11694282 G A 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001666.3/0;CC=c.155+266G>A;VC=Intron;Gene=ANO7/NM_001001891.3/1;CC=c.155+266G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:8:0:0:0:5,3:128,102:12.83,0.00:0.00,0.00:12.83,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:62.4,31.7:0,0:0,0:139,113:12,36:9,29:NM_001001891.3(ANO7) c.155+266G>A,-:0.26,-:NOT_FOUND,- 2 242129266 rs11683690 C T 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001666.3/0;CC=c.156-206C>T;VC=Intron;Gene=ANO7/NM_001001891.3/1;CC=c.156-206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,T:11:11:0:0:8,3:253,83:0.00,6.94:0.00,6.94:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:17.9,54.7:0,0:0,0:37,35:113,116:30,9:-,NM_001001891.3(ANO7) c.156-206C>T:-,0.18:-,NOT_FOUND 2 242129487 rs11695874 G T 162 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001666.3/0;CC=c.171G>T;ProtCh=p.R57=;VC=Silent;Gene=ANO7/NM_001001891.3/1;CC=c.171G>T;ProtCh=p.R57=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:105:83:0:0:52,53:1761,1686:0.00,162.25:0.00,96.92:0.00,65.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,36.6:0,0:0,0:58,50:87,96:28,19:-,NM_001001891.3(ANO7) c.171G>T (p.(=)):-,0.17:-,0.224907 2 242129587 . G . . NT END=242130608;NT GT ./. 2 242129769 rs4675985 T G 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001666.3/0;CC=c.270+183T>G;VC=Intron;Gene=ANO7/NM_001001891.3/1;CC=c.270+183T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:G,T:9:0:0:0:6,3:175,93:17.84,0.00:0.00,0.00:17.84,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:53.3,20.3:0,0:0,0:139,38:11,113:9,9:NM_001001891.3(ANO7) c.270+183T>G,-:0.39,-:NOT_FOUND,- 2 242130667 . G . . NT END=242135117;NT GT ./. 2 242135017 rs12694996 A C 124 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001666.3/0;CC=c.329-104A>C;VC=Intron;Gene=ANO7/NM_001001891.3/1;CC=c.329-101A>C;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:35:0:0:35:1078:124.43:122.54:1.89:1.00:1.00:1.00:60:40.0:0:0:39:112:25:NM_001001891.3(ANO7) c.329-101A>C,NM_001001891.3(ANO7) c.329-101A>C:0.7,0.7:NOT_FOUND,NOT_FOUND 2 242135581 . T . . NT END=242138730;NT GT ./. 2 242135702 rs11674746 G A 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.471+442G>A;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:0:0:0:11:342:39.42:0.00:39.42:1.00:0.00:1.00:60:48.7:0:0:124:27:21:NM_001001891.3(ANO7) c.471+442G>A,NM_001001891.3(ANO7) c.471+442G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 2 242135748 rs79733954 G A 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.471+488G>A;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,G:4:1:0:0:2,2:66,55:6.35,0.00:-0.30,0.00:6.65,0.00:0.51,0.00:0.67,0.00:0.89,0.00:60,60:65.5,72.5:0,0:0,0:107,85:42,65:12,50:NM_001001891.3(ANO7) c.471+488G>A,-:0.14,-:NOT_FOUND,- 2 242136253 . CGTGTGTGTGT C 6 nt VT=DEL;SST=Single;DP=5;NP=29;PC=0.006;Gene=ANO7/NM_001001891.3/1;CC=c.471+1030_471+1039delGTGTGTGTGT;VC=Intron;DM=ANO7/Anoct_dimer;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CGTGTGTGTGT,C:4:1:0:3:2,2:64,70:0.00,6.41:0.00,1.69:0.00,4.73:0.00,0.46:0.00,0.60:0.00,0.46:57,60:0.0,0.0:0,1:0,0:111,70:34,81:2,14:-,NM_001001891.3(ANO7) c.471+994_471+1003delGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 242138490 rs11674264 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.472-241A>G;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:113:13.20:13.20:0.00:1.00:1.00:0.00:60:46.0:0:0:55:95:11:NM_001001891.3(ANO7) c.472-241A>G,NM_001001891.3(ANO7) c.472-241A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 2 242138839 . G . . NT END=242139503;NT GT ./. 2 242138912 rs34107209 C T 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.579+74C>T;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:2:0:0:13,9:368,284:0.00,26.21:0.00,7.28:0.00,18.93:0.00,1.00:0.00,0.71:0.00,1.00:60,60:30.8,50.9:0,0:0,0:114,119:35,31:15,26:-,NM_001001891.3(ANO7) c.579+74C>T:-,0.09:-,NOT_FOUND 2 242139491 rs2013250 C T 222 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.580-13C>T;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:G,T:61:54:0:0:1,60:12,1939:0.23,222.02:0.23,151.08:0.00,70.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.0,39.8:0,0:0,0:119,61:32,87:0,30:NM_001001891.3(ANO7) c.580-13C>T,NM_001001891.3(ANO7) c.580-13C>T:0.55,0.55:0.749231,0.749231 2 242139641 . G . . NT END=242140712;NT GT ./. 2 242140771 . G . . NT END=242141608;NT GT ./. 2 242140785 rs78154103 C G 110 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.774+15C>G;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:65:34:0:0:31,34:942,1128:0.00,109.53:0.00,38.76:0.00,70.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,45.4:0,0:0,0:88,84:63,64:34,31:-,NM_001001891.3(ANO7) c.774+15C>G:-,0.15:-,0.214132 2 242141719 rs2074840 C T 337 nt VT=SNV;PN=A;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=NA;PC=0.041;Gene=ANO7/NM_001001891.3/1;CC=c.885C>T;ProtCh=p.D295=;VC=Silent;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:90:53:0:0:90:2941:336.98:127.61:209.37:1.00:1.00:1.00:60:38.1:0:0:108:39:23:NM_001001891.3(ANO7) c.885C>T (p.(=)),NM_001001891.3(ANO7) c.885C>T (p.(=)):0.44,0.44:0.635091,0.635091 2 242141720 . G . . NT END=242142747;NT GT ./. 2 242142737 rs1179530 T C 313 nt VT=SNV;PN=G;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=2801;Gene=ANO7/NM_001001891.3/1;CC=c.886-11T>C;VC=Intron;DM=ANO7/Anoct_dimer GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:80:73:0:0:80:2748:312.91:227.46:85.45:1.00:1.00:1.00:60:39.6:0:0:65:83:38:NM_001001891.3(ANO7) c.886-11T>C,NM_001001891.3(ANO7) c.886-11T>C:1,1:0.99969,0.99969 2 242142914 . G . . NT END=242144279;NT GT ./. 2 242144371 . G . . NT END=242146988;NT GT ./. 2 242147086 . G . . NT END=242148699;NT GT ./. 2 242147264 rs9679681 C A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ANO7/NM_001001891.3/1;CC=c.1239+179C>A;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,C:12:0:0:0:5,7:161,196:14.95,0.00:0.00,0.00:14.95,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:32.2,24.1:0,0:0,0:62,114:88,36:39,18:NM_001001891.3(ANO7) c.1239+179C>A,-:0.28,-:NOT_FOUND,- 2 242148404 rs13021863 A G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.012;Gene=ANO7/NM_001001891.3/1;CC=c.1240-296A>G;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:9:9:0:0:3,6:101,161:0.00,16.42:0.00,16.42:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:44.3,75.8:0,0:0,0:48,42:101,108:12,34:-,NM_001001891.3(ANO7) c.1240-296A>G:-,0.28:-,NOT_FOUND 2 242148844 . G . . NT END=242148912;NT GT ./. 2 242149010 rs57677160 C T 232 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=NA;PC=0.073;Gene=ANO7/NM_001001891.3/1;CC=c.1481C>T;ProtCh=p.A494V;VC=Missense;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:171:90:0:0:93,78:2945,2460:0.00,232.02:0.00,77.68:0.00,154.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.6,59.1:0,0:0,0:88,80:59,69:37,43:-,NM_001001891.3(ANO7) c.1481C>T (p.Ala494Val):-,0.14:-,0.212133 2 242149051 . G . . NT END=242149709;NT GT ./. 2 242149073 rs10192730 G A 355 nt VT=SNV;PN=C;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.1521+23G>A;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:103:52:0:0:102,1:3075,10:355.43,0.10:129.12,0.00:226.31,0.10:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.1,151.0:0,0:0,0:100,122:46,11:26,0:NM_001001891.3(ANO7) c.1521+23G>A,NM_001001891.3(ANO7) c.1521+23G>A:0.73,0.73:0.800646,0.800646 2 242149809 . G . . NT END=242149882;NT GT ./. 2 242149986 . G . . NT END=242151508;NT GT ./. 2 242151585 rs7593101 C T 114 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ANO7/NM_001001891.3/1;CC=c.1800C>T;ProtCh=p.Y600=;VC=Silent;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:39:0:0:39,37:1321,1190:0.00,113.74:0.00,41.65:0.00,72.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,43.7:0,0:0,0:89,98:46,53:35,25:-,NM_001001891.3(ANO7) c.1800C>T (p.(=)):-,0.18:-,0.237813 2 242151621 . G . . NT END=242151986;NT GT ./. 2 242151748 rs7566006 G C 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.1835+128G>C;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:6:0:0:12,13:387,403:36.91,0.00:20.95,0.00:15.96,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:47.5,26.1:0,0:0,0:89,99:62,52:23,45:NM_001001891.3(ANO7) c.1835+128G>C,-:0.15,-:NOT_FOUND,- 2 242151791 rs62187431 C G 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ANO7/NM_001001891.3/1;CC=c.1835+171C>G;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:6:0:0:9,9:290,296:0.00,28.47:0.00,2.17:0.00,26.31:0.00,1.00:0.00,0.73:0.00,0.98:60,60:41.2,41.6:0,0:0,0:131,83:20,68:14,35:-,NM_001001891.3(ANO7) c.1835+171C>G:-,0.11:-,NOT_FOUND 2 242152042 . G . . NT END=242154219;NT GT ./. 2 242154015 rs12620606 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.1891-205A>G;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,G:9:9:0:0:3,6:100,184:0.00,18.77:0.00,18.77:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,43.7:0,0:0,0:27,24:122,126:17,4:-,NM_001001891.3(ANO7) c.1891-205A>G:-,0.56:-,NOT_FOUND 2 242154318 . G . . NT END=242155507;NT GT ./. 2 242155654 . G . . NT END=242157100;NT GT ./. 2 242157087 rs111770284 C T 142 nt VT=SNV;PN=A;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.2135-14C>T;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:100:84:0:0:54,46:1784,1505:0.00,142.46:0.00,103.53:0.00,38.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,37.3:0,0:0,0:65,48:85,91:28,30:-,NM_001001891.3(ANO7) c.2135-14C>T:-,0.12:-,0.128385 2 242157228 rs78605785 G T 220 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=NA;Gene=ANO7/NM_001001891.3/1;CC=c.2262G>T;ProtCh=p.P754=;VC=Silent;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:123:68:0:0:56,67:1767,2247:0.00,219.86:0.00,84.39:0.00,135.47:0.00,1.00:0.00,1.00:0.00,1.00:60,70:40.1,40.9:0,0:0,0:70,86:78,55:30,34:-,NM_001001891.3(ANO7) c.2262G>T (p.(=)):-,NOT_FOUND:-,0.194149 2 242157241 rs76832527 G A 150 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ANO7/NM_001001891.3/1;CC=c.2275G>A;ProtCh=p.A759T;VC=Missense;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:119:62:0:0:51,3,65:1601,34,2162:149.86,0.17,0.00:42.53,0.21,0.00:107.33,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,70:34.7,90.0,41.9:0,0,0:0,0,0:98,70,84:53,81,59:31,21,34:NM_001001891.3(ANO7) c.2275G>A (p.Ala759Thr),-:0.12,-:0.13114,- 2 242157307 . G . . NT END=242157653;NT GT ./. 2 242157353 . CG C 46 nt VT=DEL;SST=Single;DP=18;NP=18;PC=0.493;Gene=ANO7/NM_001001891.3/1;CC=c.2340+52delG;VC=Intron;DM=ANO7/Anoctamin;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:CG,C:18:4:0:15:4,14:105,430:0.00,45.54:0.00,14.17:0.00,31.37:0.00,1.00:0.00,1.00:0.00,1.00:60,70:48.5,46.5:0,0:0,0:146,124:3,27:0,17:-,NM_001001891.3(ANO7) c.2340+48delG:-,NOT_FOUND:-,0.981273 2 242157462 . G A 14 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;PC=0.887;Gene=ANO7/NM_001001891.3/1;CC=c.2340+156G>A;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:118:13.70:13.70:0.00:1.00:1.00:0.00:47:96.5:0:0:7:100:3:NM_001001891.3(ANO7) c.2340+156G>A,NM_001001891.3(ANO7) c.2340+156G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242157472 . G C 15 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;PC=0.001;Gene=ANO7/NM_001001891.3/1;CC=c.2340+166G>C;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:47:96.5:4:0:17:90:3:NM_001001891.3(ANO7) c.2340+166G>C,NM_001001891.3(ANO7) c.2340+166G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242157475 . A C,AGGGGC 9 idl;end,nt VT=INS;SST=Single;DP=5;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:C,AGGGGC:5:5:4:0:1,4:32,75:2.98,8.77:2.98,8.77:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:51,47:168.0,96.5:0,0:0,0:0,20:151,87:0,3:NM_001001891.3(ANO7) c.2340+169A>C,NM_001001891.3(ANO7) c.2340+169_2340+170insGGGGC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242157511 . CG C,CGG 12 idl,nt VT=DEL;SST=Single;DP=11;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:4:CG,CGG,C:8:11:3:6:2,2,4:48,54,150:0.00,4.30,12.16:0.00,4.30,12.16:0.00,0.00,0.00:0.00,0.00,0.82:0.00,0.00,0.82:0.00,0.00,0.00:51,47,60:124.0,153.0,53.2:0,1,2:0,0,0:49,59,24:80,48,126:13,2,7:NM_001001891.3(ANO7) c.2341-142delG,NM_001001891.3(ANO7) c.2341-142dupG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242157541 . G C,GGGCGGGGGGGC 37 idl;end,nt VT=INS;SST=Single;DP=29;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:C,G,GGGCGGGGGGGC:25:29:18:0:5,6,14:153,123,472:13.38,0.00,36.81:13.38,0.00,36.81:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,51,60:46.2,110.7,38.6:0,0,4:0,0,0:0,89,22:150,23,125:0,7,6:NM_001001891.3(ANO7) c.2341-113G>C,NM_001001891.3(ANO7) c.2341-113_2341-112insGGCGGGGGGGC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242157565 . C CGG 75 nt VT=INS;SST=Single;DP=60;Gene=ANO7/NM_001001891.3/1;CC=c.2341-82_2341-81insGG;VC=Intron;DM=ANO7/Anoctamin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CGG:59:59:28:0:32,27:1025,832:0.00,75.06:0.00,75.32:0.00,-0.26:0.00,1.00:0.00,1.00:0.00,0.63:60,70:36.3,20.6:2,1:0,0:36,24:100,106:24,16:-,NM_001001891.3(ANO7) c.2341-89_2341-88insGG:-,NOT_FOUND:-,NOT_FOUND 2 242157797 . G . . NT END=242162600;NT GT ./. 2 242157927 rs11692790 G A 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.188;Gene=ANO7/NM_001001891.3/1;CC=c.2483+131G>A;VC=Intron;DM=ANO7/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:14:A,C,G:17:3:0:0:13,1,3:385,10,39:41.41,0.33,0.00:6.52,0.40,0.00:34.89,-0.08,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:60,60,60:69.2,84.0,92.0:0,0,0:0,0,0:123,100,90:28,32,30:18,0,31:NM_001001891.3(ANO7) c.2483+131G>A,-:0.75,-:NOT_FOUND,- 2 242162692 . G . . NT END=242163076;NT GT ./. 2 242163197 . G . . NT END=242163319;NT GT ./. 2 242163359 rs7590653 G A 213 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=NA;PC=0.006;Gene=ANO7/NM_001001891.3/1;CC=c.2734G>A;ProtCh=p.E912K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:84:0:0:68,66:2204,2047:212.58,0.00:101.13,0.00:111.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,9.9:0,0:0,0:70,76:74,70:31,35:NM_001001891.3(ANO7) c.2734G>A (p.Glu912Lys),-:0.16,-:0.212517,- 2 242163371 . G . . NT END=242163511;NT GT ./. 2 242163569 . C . . NT END=242169015;NT GT ./. 2 242169103 . C . . NT END=242169247;NT GT ./. 2 242169377 . C . . NT END=242169567;NT GT ./. 2 242169685 . C . . NT END=242170173;NT GT ./. 2 242170360 . C . . NT END=242173234;NT GT ./. 2 242173379 . C . . NT END=242174535;NT GT ./. 2 242174671 . C . . NT END=242174904;NT GT ./. 2 242175010 . C . . NT END=242176029;NT GT ./. 2 242176185 . C . . NT END=242178063;NT GT ./. 2 242178203 . C . . NT END=242179016;NT GT ./. 2 242179134 rs10153800 G A 154 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=113;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_001243900.1/0;CC=c.2394C>T;ProtCh=p.G798=;VC=Silent;Gene=HDLBP/NM_203346.3/1;CC=c.2493C>T;ProtCh=p.G831=;VC=Silent;Gene=HDLBP/NM_005336.4/0;CC=c.2493C>T;ProtCh=p.G831=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:113:87:0:0:51,62:1637,1910:154.31,0.00:98.05,0.00:56.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,7.9:0,0:0,0:80,59:71,88:32,36:NM_005336.4(HDLBP) c.2493C>T (p.(=)),-:0.16,-:0.22036,- 2 242179236 . C . . NT END=242179315;NT GT ./. 2 242179538 . C . . NT END=242181874;NT GT ./. 2 242182094 . C . . NT END=242186166;NT GT ./. 2 242186299 . C . . NT END=242186470;NT GT ./. 2 242186558 . C . . NT END=242187417;NT GT ./. 2 242186691 rs190360816 T C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=13;Gene=HDLBP/NM_001243900.1/0;CC=c.1633-134A>G;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.1732-134A>G;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.1732-134A>G;VC=Intron;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:0:0:0:9,7:265,203:26.04,0.00:0.00,0.00:26.04,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.8,13.0:0,0:0,0:88,70:63,79:19,51:NM_005336.4(HDLBP) c.1732-134A>G,-:0.0014,-:NOT_FOUND,- 2 242187532 . C . . NT END=242187658;NT GT ./. 2 242187764 . C . . NT END=242189255;NT GT ./. 2 242188000 rs10933542 C T 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_001243900.1/0;CC=c.1414-237G>A;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.1513-237G>A;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.1513-237G>A;VC=Intron;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:178:20.62:0.00:20.62:1.00:0.00:1.00:60:36.3:0:0:83:67:17:NM_005336.4(HDLBP) c.1513-237G>A,NM_005336.4(HDLBP) c.1513-237G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 2 242189396 . C . . NT END=242192371;NT GT ./. 2 242192451 . C . . NT END=242192807;NT GT ./. 2 242192848 rs7578199 T C 103 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=NA;PC=0.028;Gene=HDLBP/NM_001243900.1/0;CC=c.1154A>G;ProtCh=p.N385S;VC=Missense;Gene=HDLBP/NM_203346.3/1;CC=c.1253A>G;ProtCh=p.N418S;VC=Missense;Gene=HDLBP/NM_005336.4/0;CC=c.1253A>G;ProtCh=p.N418S;VC=Missense;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:49:0:0:31,30:1062,978:102.64,0.00:53.93,0.00:48.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,1.7:0,0:0,0:65,53:74,86:36,34:NM_005336.4(HDLBP) c.1253A>G (p.Asn418Ser),-:0.16,-:0.224742,- 2 242192913 . C . . NT END=242194465;NT GT ./. 2 242194574 . C . . NT END=242194788;NT GT ./. 2 242194996 . C . . NT END=242195598;NT GT ./. 2 242195394 rs59384702 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_001243900.1/0;CC=c.981+205G>A;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.873+205G>A;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.873+205G>A;VC=Intron;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,T:15:15:0:0:10,5:331,158:0.00,14.04:0.00,14.04:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:0.0,42.0:0,0:0,0:19,35:131,114:15,3:-,NM_005336.4(HDLBP) c.873+205G>A:-,0.23:-,NOT_FOUND 2 242195815 . C . . NT END=242196014;NT GT ./. 2 242195910 rs186303381 C T 75 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=23;Gene=HDLBP/NM_001243900.1/0;CC=c.766-96G>A;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.658-96G>A;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.658-96G>A;VC=Intron;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:20:0:0:14,24:465,742:0.00,74.74:0.00,44.45:0.00,30.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,48.2:0,0:0,0:94,64:56,87:22,42:-,NM_005336.4(HDLBP) c.658-96G>A:-,0.0014:-,NOT_FOUND 2 242196222 . C . . NT END=242202125;NT GT ./. 2 242196324 rs11693403 T C 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_001243900.1/0;CC=c.559-103A>G;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.451-103A>G;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.451-103A>G;VC=Intron;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:2:0:0:12,19:328,642:29.46,0.00:4.90,0.00:24.57,0.00:1.00,0.00:0.69,0.00:1.00,0.00:60,60:40.4,3.2:0,0:0,0:104,128:46,21:30,18:NM_005336.4(HDLBP) c.451-103A>G,-:0.17,-:NOT_FOUND,- 2 242202342 . C . . NT END=242203862;NT GT ./. 2 242203776 . CA C 7 idl,rn VT=DEL;SST=Single;DP=23;NP=9;PC=0.086;Gene=HDLBP/NM_001243900.1/0;CC=c.342+86delT;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.234+86delT;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.234+86delT;VC=Intron;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:CA,I,C:22:21:2:4:17,2,3:507,65,126:0.00,4.67,7.35:0.00,4.70,7.41:0.00,-0.04,-0.06:0.00,0.00,0.47:0.00,0.00,0.88:0.00,0.00,0.37:60,60,60:24.3,20.5,15.0:0,0,1:0,0,0:39,9,22:108,141,124:26,4,13:-,NM_005336.4(HDLBP) c.234+86delT:-,NOT_FOUND:-,NOT_FOUND 2 242203916 rs11891776 A C 305 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=3480;PC=0.178;Gene=HDLBP/NM_001243900.1/0;CC=c.289T>G;ProtCh=p.S97A;VC=Missense;Gene=HDLBP/NM_203346.3/1;CC=c.181T>G;ProtCh=p.S61A;VC=Missense;Gene=HDLBP/NM_005336.4/0;CC=c.181T>G;ProtCh=p.S61A;VC=Missense;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:79:66:0:0:79:2672:304.87:206.44:98.43:1.00:1.00:1.00:60:42.4:0:0:66:84:34:NM_005336.4(HDLBP) c.=,NM_005336.4(HDLBP) c.=:1,1:NOT_FOUND,NOT_FOUND 2 242204021 . C . . NT END=242206208;NT GT ./. 2 242204175 rs3771344 A G 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_001243900.1/0;CC=c.185-155T>C;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.77-155T>C;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.77-155T>C;VC=Intron;DM=HDLBP/KH_1;DM=HDLBP/KH_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:370:42.72:0.00:42.72:1.00:0.00:1.00:60:40.9:0:0:91:59:29:NM_005336.4(HDLBP) c.77-155T>C,NM_005336.4(HDLBP) c.77-155T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 2 242206322 . C . . NT END=242206992;NT GT ./. 2 242206555 rs7557535 T C 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.003;Gene=HDLBP/NM_001243900.1/0;CC=c.72-234A>G;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.-37-234A>G;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.-37-234A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:4:0:0:0:3,1:77,30:8.11,0.00:0.00,0.00:8.11,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:35.3,76.0:0,0:0,0:89,123:62,26:58,0:NM_005336.4(HDLBP) c.-37-234A>G,-:0.1,-:NOT_FOUND,- 2 242206956 rs35334418 C T 206 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_001243900.1/0;CC=c.71+37G>A;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.-37-635G>A;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.-37-635G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:T:58:49:0:0:58:1784:205.92:147.56:58.36:1.00:1.00:1.00:60:37.6:0:0:34:116:22:NM_005336.4(HDLBP) c.-37-635G>A,NM_005336.4(HDLBP) c.-37-635G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 2 242207065 . C . . NT END=242207190;NT GT ./. 2 242207362 . G . . NT END=242207841;NT GT ./. 2 242207396 rs79379092 TCCTCTCCTTC T 38 nt VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=159;PC=0.052;Gene=HDLBP/NM_001243900.1/0;CC=c.-60-283_-60-274delGAAGGAGAGG;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.-38+486_-38+495delGAAGGAGAGG;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.-38+486_-38+495delGAAGGAGAGG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCCTCTCCTTC,T:57:20:0:16:41,16:1329,455:0.00,38.44:0.00,16.82:0.00,21.62:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.6,17.8:0,0:0,0:109,80:36,67:22,16:-,NM_005336.4(HDLBP) c.-38+486_-38+495delGAAGGAGAGG:-,0.1:-,NOT_FOUND 2 242207960 . G . . NT END=242210394;NT GT ./. 2 242210408 rs4675816 A G 320 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_001243900.1/0;CC=c.-126+1768T>C;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.-103+1768T>C;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.-102-2452T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:90:73:0:0:90:2774:319.73:201.54:118.18:1.00:1.00:1.00:60:34.5:0:0:68:76:35:NM_005336.4(HDLBP) c.-102-2452T>C,NM_005336.4(HDLBP) c.-102-2452T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 2 242210541 . G . . NT END=242211583;NT GT ./. 2 242211554 rs62186378 G A 102 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HDLBP/NM_001243900.1/0;CC=c.-126+622C>T;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.-103+622C>T;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.-102-3598C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:70:62:0:0:33,1,36:1071,13,1178:102.12,0.03,0.00:68.50,0.10,0.00:33.62,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.8,30.0,15.7:0,0,0:0,0,0:59,144,57:86,7,93:19,0,26:NM_005336.4(HDLBP) c.-102-3598C>T,-:0.1,-:NOT_FOUND,- 2 242211995 . G . . NT END=242212456;NT GT ./. 2 242212033 rs181225616 G C 119 nt VT=SNV;PN=G;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.012;Gene=HDLBP/NM_001243900.1/0;CC=c.-126+143C>G;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.-103+143C>G;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.-102-4077C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:78:35:0:0:41,37:1231,1134:119.15,0.00:32.37,0.00:86.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.2,18.5:0,0:0,0:112,100:32,37:22,26:NM_005336.4(HDLBP) c.-102-4077C>G,-:0.15,-:NOT_FOUND,- 2 242212155 rs186385628 A G 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;PC=0.002;Gene=HDLBP/NM_001243900.1/0;CC=c.-126+21T>C;VC=Intron;Gene=HDLBP/NM_203346.3/1;CC=c.-103+21T>C;VC=Intron;Gene=HDLBP/NM_005336.4/0;CC=c.-102-4199T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:3:0:0:8,13:265,359:0.00,35.99:0.00,4.60:0.00,31.38:0.00,1.00:0.00,0.95:0.00,1.00:60,60:23.9,57.3:0,0:0,0:108,99:42,52:31,15:-,NM_005336.4(HDLBP) c.-102-4199T>C:-,0.13:-,NOT_FOUND 2 242212638 . G . . NT END=242212999;NT GT ./. 2 242212672 rs6705421 A G 103 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;PC=0.001;Gene=HDLBP/NM_005336.4/0;CC=c.-102-4716T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:69:18:0:0:34,34,1:1161,1077,11:0.00,103.41,-0.04:0.00,16.27,-0.04:0.00,87.14,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.1,37.9,11.0:0,0,0:0,0,0:105,104,92:46,34,59:25,31,0:-,NM_005336.4(HDLBP) c.-102-4716T>C:-,0.57:-,NOT_FOUND 2 242212917 rs11693230 G A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_005336.4/0;CC=c.-102-4961C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:18:0:0:16,10:450,311:45.03,0.00:31.07,0.00:13.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,1.2:0,0:0,0:65,72:85,79:12,19:NM_005336.4(HDLBP) c.-102-4961C>T,-:0.11,-:NOT_FOUND,- 2 242213100 . G . . NT END=242219364;NT GT ./. 2 242219281 rs56383420 A G 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=NA;Gene=HDLBP/NM_005336.4/0;CC=c.-102-11325T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:54:0:0:32,25:1062,831:0.00,78.04:0.00,64.41:0.00,13.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,37.9:0,0:0,0:49,29:101,118:25,25:-,NM_005336.4(HDLBP) c.-102-11325T>C:-,0.1:-,NOT_FOUND 2 242219498 . G . . NT END=242255882;NT GT ./. 2 242255830 rs13006939 C T 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=SEPT2/NM_001008491.2/0;CC=c.-119+805C>T;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.-18+805C>T;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.-103+433C>T;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.-46-7C>T;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.-345-7C>T;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.-18+433C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:45:0:0:30,18:955,583:0.00,53.10:0.00,44.12:0.00,8.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,36.4:0,0:0,0:53,39:97,104:27,31:-,NM_001008491.1(SEPT2) c.-119+805C>T:-,0.15:-,NOT_FOUND 2 242255971 . G . . NT END=242256913;NT GT ./. 2 242256950 . AT A 14 idl,rn VT=DEL;SST=Single;DP=62;Gene=SEPT2/NM_001008491.2/0;CC=c.-65delT;VC=5UTR;Gene=SEPT2/NM_006155.2/0;CC=c.-18+1942delT;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.-103+1570delT;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.88+997delT;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.-173delT;VC=5UTR;Gene=SEPT2/NM_004404.4/0;CC=c.-18+1570delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:AT,T,I,A:54:45:4:15:42,1,4,7:1235,12,130,452:0.00,-0.06,8.93,14.36:0.00,-0.15,7.00,2.70:0.00,0.08,1.93,11.66:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.98:0.00,0.00,0.00,0.98:60,60,60,60:23.0,50.0,33.2,61.4:0,0,0,8:0,0,0,0:87,64,42,70:50,87,98,58:30,0,4,19:-,NM_001008491.1(SEPT2) c.-81T[16]:-,NOT_FOUND:-,NOT_FOUND 2 242257015 . G . . NT END=242263630;NT GT ./. 2 242263657 . G . . NT END=242265407;NT GT ./. 2 242263803 rs573936643 CTT C 15 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=22;Gene=SEPT2/NM_001008491.2/0;CC=c.9+163_9+164delTT;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.9+163_9+164delTT;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.9+163_9+164delTT;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.114+163_114+164delTT;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.9+163_9+164delTT;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.9+163_9+164delTT;VC=Intron;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:CTT,C:9:0:0:7:4,5:130,210:0.00,14.72:0.00,0.00:0.00,14.72:0.00,0.93:0.00,0.00:0.00,0.93:60,60:27.0,29.0:0,2:0,0:144,93:7,54:3,30:-,NM_001008491.1(SEPT2) c.9+148_9+149delTT:-,NOT_FOUND:-,NOT_FOUND 2 242265273 rs4234100 C T 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=SEPT2/NM_001008491.2/0;CC=c.10-135C>T;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.10-135C>T;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.10-135C>T;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.115-135C>T;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.10-135C>T;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.10-135C>T;VC=Intron;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:16:0:0:10,7:269,227:0.00,21.05:0.00,21.28:0.00,-0.23:0.00,0.98:0.00,1.00:0.00,0.61:60,60:27.9,46.0:0,0:0,0:54,107:96,43:26,8:-,NM_001008491.1(SEPT2) c.10-135C>T:-,0.57:-,NOT_FOUND 2 242265529 . G . . NT END=242274540;NT GT ./. 2 242274628 . G . . NT END=242274736;NT GT ./. 2 242274767 . G . . NT END=242275373;NT GT ./. 2 242275514 . G . . NT END=242276796;NT GT ./. 2 242275579 rs41266959 G A 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=SEPT2/NM_001008491.2/0;CC=c.341+66G>A;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.341+66G>A;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.341+66G>A;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.446+66G>A;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.371+66G>A;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.341+66G>A;VC=Intron;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin;DM=SEPT2/Septin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:14:0:0:24,14:746,476:75.16,0.00:13.50,0.00:61.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,3.4:0,0:0,0:113,80:38,70:23,33:NM_001008491.1(SEPT2) c.341+66G>A,-:0.09,-:NOT_FOUND,- 2 242276932 . G . . NT END=242277087;NT GT ./. 2 242277206 . G . . NT END=242282406;NT GT ./. 2 242282509 . G . . NT END=242283166;NT GT ./. 2 242282957 rs12619369 A T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=SEPT2/NM_001008491.2/0;CC=c.697-210A>T;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.697-210A>T;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.697-210A>T;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.802-210A>T;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.727-210A>T;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.697-210A>T;VC=Intron;DM=SEPT2/Septin;DM=SEPT2/Septin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,T:10:10:0:0:6,4:178,102:0.00,9.16:0.00,9.16:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:79.8,47.8:0,0:0,0:39,84:111,66:10,39:-,NM_001008491.1(SEPT2) c.697-210A>T:-,0.17:-,NOT_FOUND 2 242283071 rs6750169 C T 144 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=SEPT2/NM_001008491.2/0;CC=c.697-96C>T;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.697-96C>T;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.697-96C>T;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.802-96C>T;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.727-96C>T;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.697-96C>T;VC=Intron;DM=SEPT2/Septin;DM=SEPT2/Septin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:38:0:0:39:1256:144.16:125.02:19.13:1.00:1.00:1.00:60:79.6:0:0:56:94:32:NM_001008491.1(SEPT2) c.697-96C>T,NM_001008491.1(SEPT2) c.697-96C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 2 242283094 rs6707518 A G 199 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=SEPT2/NM_001008491.2/0;CC=c.697-73A>G;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.697-73A>G;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.697-73A>G;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.802-73A>G;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.727-73A>G;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.697-73A>G;VC=Intron;DM=SEPT2/Septin;DM=SEPT2/Septin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G:52:49:0:0:52:1739:198.63:160.55:38.08:1.00:1.00:1.00:60:66.8:0:0:50:97:32:NM_001008491.1(SEPT2) c.697-73A>G,NM_001008491.1(SEPT2) c.697-73A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 2 242283313 . G . . NT END=242285580;NT GT ./. 2 242285665 . G . . NT END=242287548;NT GT ./. 2 242287487 rs12619647 T G 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SEPT2/NM_001008491.2/0;CC=c.927-62T>G;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.927-62T>G;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.927-62T>G;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.1032-62T>G;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.957-62T>G;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.927-62T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:33:31:0:0:11,22:355,679:31.60,0.00:30.94,0.00:0.66,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:59.0,7.5:0,0:0,0:51,37:93,110:23,20:NM_001008491.1(SEPT2) c.927-62T>G,-:0.4,-:0.08191,- 2 242287607 . G . . NT END=242289487;NT GT ./. 2 242289590 . G . . NT END=242312522;NT GT ./. 2 242289663 rs397722876 C CATT 123 nt VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2237;Gene=SEPT2/NM_001008491.2/0;CC=c.*29+46_*29+48dupATT;VC=Intron;Gene=SEPT2/NM_006155.2/0;CC=c.*29+46_*29+48dupATT;VC=Intron;Gene=SEPT2/NM_001008492.2/0;CC=c.*29+46_*29+48dupATT;VC=Intron;Gene=SEPT2/NM_001282972.1/0;CC=c.*29+46_*29+48dupATT;VC=Intron;Gene=SEPT2/NM_001282973.1/1;CC=c.*29+46_*29+48dupATT;VC=Intron;Gene=SEPT2/NM_004404.4/0;CC=c.*29+46_*29+48dupATT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CATT:44:14:36:0:8,36:276,1149:0.00,123.00:0.00,23.75:0.00,99.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.2,8.1:0,0:0,0:143,123:4,27:2,12:-,NM_001008491.1(SEPT2) c.*29+45_*29+46insATT:-,0.78:-,NOT_FOUND 2 242312477 rs201276541 G GT 28 idl,rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=140;PC=0.012;Gene=FARP2/NM_001282983.1/0;CC=c.-24-9dupT;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.-24-9dupT;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.-24-9dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT,D:43:44:12:7:28,11,4:889,362,206:0.00,27.98,7.76:0.00,25.59,6.68:0.00,2.39,1.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.97,0.00:60,60,60:13.5,49.8,55.0:0,1,3:0,0,0:57,41,44:90,109,105:39,21,27:-,NM_014808.2(FARP2) c.-24-22_-24-21insT:-,NOT_FOUND:-,NOT_FOUND 2 242312706 . G . . NT END=242343242;NT GT ./. 2 242343348 . G . . NT END=242344213;NT GT ./. 2 242344257 . G . . NT END=242346951;NT GT ./. 2 242347031 . G . . NT END=242350447;NT GT ./. 2 242350546 . G . . NT END=242352721;NT GT ./. 2 242352582 rs3815262 A T 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FARP2/NM_001282983.1/0;CC=c.509-140A>T;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.509-140A>T;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.509-140A>T;VC=Intron;DM=FARP2/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,T:23:23:0:0:17,6:527,195:0.00,16.63:0.00,16.63:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:21.6,47.5:0,0:0,0:49,65:102,85:35,28:-,NM_014808.2(FARP2) c.509-140A>T:-,0.2:-,NOT_FOUND 2 242352837 . G . . NT END=242357376;NT GT ./. 2 242357057 rs397768047 A AT 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=140;PC=0.025;Gene=FARP2/NM_001282983.1/0;CC=c.624-318dupT;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.624-318dupT;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.624-318dupT;VC=Intron;DM=FARP2/FERM_M;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AT:4:4:4:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:8.5:0:0:17:133:13:NM_014808.2(FARP2) c.624-320_624-319insT,NM_014808.2(FARP2) c.624-320_624-319insT:0.74,0.74:NOT_FOUND,NOT_FOUND 2 242357525 . G . . NT END=242371093;NT GT ./. 2 242371190 . G . . NT END=242373572;NT GT ./. 2 242373737 . G . . NT END=242374376;NT GT ./. 2 242374446 . G . . NT END=242375895;NT GT ./. 2 242374519 rs34882686 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FARP2/NM_001282983.1/0;CC=c.1100+74C>T;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.1100+74C>T;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.1100+74C>T;VC=Intron;DM=FARP2/FA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:4:0:0:11,8:306,247:0.00,22.91:0.00,1.06:0.00,21.85:0.00,0.99:0.00,0.89:0.00,1.00:60,60:8.0,42.0:0,0:0,0:125,93:26,57:16,11:-,NM_014808.2(FARP2) c.1100+74C>T:-,0.15:-,NOT_FOUND 2 242375954 . G . . NT END=242380718;NT GT ./. 2 242380972 . G . . NT END=242396161;NT GT ./. 2 242396033 rs2074775 A G 59 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_001282983.1/0;CC=c.1412-129A>G;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.1412-129A>G;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.1412-129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:17:0:0:17:509:58.98:56.99:1.99:1.00:1.00:1.00:60:60.6:0:0:40:111:24:NM_014808.2(FARP2) c.1412-129A>G,NM_014808.2(FARP2) c.1412-129A>G:0.27,0.27:NOT_FOUND,NOT_FOUND 2 242396087 rs2074774 A T 133 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_001282983.1/0;CC=c.1412-75A>T;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.1412-75A>T;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.1412-75A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:T:40:38:0:0:40:1138:132.61:101.74:30.87:1.00:1.00:1.00:60:49.7:0:0:29:117:15:NM_014808.2(FARP2) c.1412-75A>T,NM_014808.2(FARP2) c.1412-75A>T:0.33,0.33:NOT_FOUND,NOT_FOUND 2 242396338 . G . . NT END=242401937;NT GT ./. 2 242402028 . G . . NT END=242402749;NT GT ./. 2 242402061 rs13011791 T A 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_001282983.1/0;CC=c.1677+34T>A;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.1677+34T>A;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.1677+34T>A;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:39:14:0:0:16,23:514,691:47.58,0.00:9.45,0.00:38.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,44.8:0,0:0,0:81,126:69,20:28,13:NM_014808.2(FARP2) c.1677+34T>A,-:0.14,-:0.132093,- 2 242402062 rs4675811 A T 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_001282983.1/0;CC=c.1677+35A>T;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.1677+35A>T;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.1677+35A>T;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:38:13:0:0:16,22:502,697:0.00,68.98:0.00,15.08:0.00,53.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.8,47.9:0,0:0,0:94,128:56,19:39,12:-,NM_014808.2(FARP2) c.1677+35A>T:-,0.21:-,0.131324 2 242402884 . G . . NT END=242403313;NT GT ./. 2 242403396 . G . . NT END=242404874;NT GT ./. 2 242404661 rs6752327 T C 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_001282983.1/0;CC=c.1894-214T>C;VC=Intron;Gene=FARP2/NM_001282984.1/0;CC=c.1894-428T>C;VC=Intron;Gene=FARP2/NM_014808.3/1;CC=c.1893+1266T>C;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A,C:8:8:0:0:1,7:11,199:0.72,22.76:0.72,22.76:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:135.0,44.0:0,0:0,0:79,56:72,92:0,21:NM_014808.2(FARP2) c.1893+1266T>C,NM_014808.2(FARP2) c.1893+1266T>C:0.36,0.36:NOT_FOUND,NOT_FOUND 2 242405772 rs62190407 G A 163 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=140;DB;DBA=NA;PAF=NA;PC=0.110;Gene=FARP2/NM_014808.3/1;CC=c.1894-1783G>A;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:140:93:0:0:59,1,80:1759,12,2517:162.79,-0.13,0.00:78.75,-0.01,0.00:84.04,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.9,22.0,8.1:0,0,0:0,0,0:72,115,61:70,36,86:31,0,28:NM_014808.2(FARP2) c.1894-1783G>A,-:0.2,-:NOT_FOUND,- 2 242406061 . c . . NT END=242407554;NT GT ./. 2 242406097 rs410788 T C 155 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_014808.3/1;CC=c.1894-1458T>C;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:C,T:45:0:0:1:44,1:1356,12:154.72,0.00:0.00,0.00:154.72,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:81.2,107.0:0,0:0,0:92,42:58,109:30,0:NM_014808.2(FARP2) c.1894-1458T>C,NM_014808.2(FARP2) c.1894-1458T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 2 242406104 . AC A 31 idl,rn VT=DEL;SST=Single;DP=40;NP=1;Gene=FARP2/NM_014808.3/1;CC=c.1894-1440delC;VC=Intron;DM=FARP2/RhoGEF;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,C,A:40:1:0:18:23,4,13:592,61,350:0.00,3.21,30.95:0.00,-0.02,-0.09:0.00,3.23,31.04:0.00,0.00,1.00:0.00,0.00,0.55:0.00,0.00,1.00:60,60,60:98.1,116.5,54.6:0,0,0:0,0,0:100,91,99:48,59,52:38,11,14:-,NM_014808.2(FARP2) c.1894-1450delC:-,NOT_FOUND:-,NOT_FOUND 2 242406107 rs116571422 C T 56 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FARP2/NM_014808.3/1;CC=c.1894-1448C>T;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:41:0:0:0:1,21,19:11,632,594:0.04,0.00,56.45:0.00,0.00,0.00:0.04,0.00,56.45:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:158.0,55.7,114.4:0,18,0:0,0,0:107,97,91:43,54,59:0,32,22:-,NM_014808.2(FARP2) c.1894-1448C>T:-,0.16:-,NOT_FOUND 2 242406108 rs115979345 C G 60 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FARP2/NM_014808.3/1;CC=c.1894-1447C>G;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:41:0:0:0:1,21,19:9,644,626:-0.05,0.00,59.63:0.00,0.00,0.00:-0.05,0.00,59.63:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:100.0,55.7,117.4:0,18,0:0,0,0:54,98,104:97,53,46:0,32,12:-,NM_014808.2(FARP2) c.1894-1447C>G:-,0.14:-,NOT_FOUND 2 242406245 rs55811034 C T 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.999;Gene=FARP2/NM_014808.3/1;CC=c.1894-1310C>T;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:C,T:9:0:0:0:5,4:168,103:0.00,9.50:0.00,0.00:0.00,9.50:0.00,0.85:0.00,0.00:0.00,0.85:60,60:2.0,25.8:0,0:0,0:102,35:49,116:17,27:-,NM_014808.2(FARP2) c.1894-1310C>T:-,0.1:-,NOT_FOUND 2 242407467 rs55764424 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_014808.3/1;CC=c.1894-88C>T;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:15:0:0:9,6:255,207:0.00,19.19:0.00,17.45:0.00,1.74:0.00,0.96:0.00,0.96:0.00,0.60:60,60:38.0,54.7:0,0:0,0:80,82:70,68:45,51:-,NM_014808.2(FARP2) c.1894-88C>T:-,0.12:-,NOT_FOUND 2 242407478 rs10933558 A G 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_014808.3/1;CC=c.1894-77A>G;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:7,10:237,296:0.00,29.37:0.00,27.99:0.00,1.38:0.00,1.00:0.00,1.00:0.00,0.86:60,60:31.1,44.4:0,0:0,0:27,52:124,98:22,42:-,NM_014808.2(FARP2) c.1894-77A>G:-,0.16:-,NOT_FOUND 2 242407746 rs10933559 A G 175 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=NA;PC=0.995;Gene=FARP2/NM_014808.3/1;CC=c.2085A>G;ProtCh=p.L695=;VC=Silent;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:49:0:0:44,53:1411,1785:0.00,174.81:0.00,59.19:0.00,115.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,37.8:0,0:0,0:83,76:62,68:23,25:-,NM_014808.2(FARP2) c.2085A>G (p.(=)):-,0.16:-,0.216515 2 242407793 . G . . NT END=242415271;NT GT ./. 2 242415086 rs13422793 T C 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.004;Gene=FARP2/NM_014808.3/1;CC=c.2132-186T>C;VC=Intron;DM=FARP2/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,T:10:10:0:0:4,6:119,200:10.88,0.00:10.88,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:43.0,0.0:0,0:0,0:35,69:116,81:21,20:NM_014808.2(FARP2) c.2132-186T>C,-:0.16,-:NOT_FOUND,- 2 242415385 . C T 148 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=98;PC=1.000;Gene=FARP2/NM_014808.3/1;CC=c.2245C>T;ProtCh=p.L749F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:98:47:0:0:51,47:1674,1553:0.00,148.26:0.00,54.87:0.00,93.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,41.4:0,0:0,0:87,88:61,63:31,28:-,NM_014808.2(FARP2) c.2245C>T (p.Leu749Phe):-,NOT_FOUND:-,NOT_FOUND 2 242415403 . G . . NT END=242422879;NT GT ./. 2 242415617 rs10184910 A G 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.055;Gene=FARP2/NM_014808.3/1;CC=c.2262+215A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,G,T:15:0:0:0:1,13,1:26,402,10:1.91,45.57,0.44:0.00,0.00,0.00:1.91,45.57,0.44:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:152.0,62.5,76.0:0,0,0:0,0,0:134,135,101:17,16,50:0,9,0:NM_014808.2(FARP2) c.2262+215A>G,NM_014808.2(FARP2) c.2262+215A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 2 242422949 . G . . NT END=242423184;NT GT ./. 2 242423648 . G . . NT END=242423656;NT GT ./. 2 242423747 . G . . NT END=242429376;NT GT ./. 2 242429460 . G . . NT END=242430475;NT GT ./. 2 242430245 rs13405290 C G 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_014808.3/1;CC=c.2505-231C>G;VC=Intron;DM=FARP2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,G:6:6:0:0:2,4:58,105:0.00,10.74:0.00,10.74:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:18.5,76.0:0,0:0,0:32,43:118,108:10,22:-,NM_014808.2(FARP2) c.2505-231C>G:-,0.12:-,NOT_FOUND 2 242430595 . G . . NT END=242430930;NT GT ./. 2 242431095 . G . . NT END=242432343;NT GT ./. 2 242432452 . G . . NT END=242432707;NT GT ./. 2 242432704 rs2271030 G C 226 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_014808.3/1;CC=c.2896-4G>C;VC=Intron;DM=FARP2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:C,G:60:53:0:0:59,1:1996,10:226.03,0.00:145.47,0.00:80.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,171.0:0,0:0,0:64,64:83,59:32,0:NM_014808.2(FARP2) c.2896-4G>C,NM_014808.2(FARP2) c.2896-4G>C:0.33,0.33:0.331462,0.331462 2 242432860 . G . . NT END=242433422;NT GT ./. 2 242433012 rs11320829 GT G 22 idl,rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=17;PC=0.136;Gene=FARP2/NM_014808.3/1;CC=c.3047+167delT;VC=Intron;DM=FARP2/PH;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:175:GT,G:13:0:0:9:6,7:170,288:0.00,21.59:0.00,0.00:0.00,21.59:0.00,0.99:0.00,0.00:0.00,0.99:60,60:62.0,8.1:1,2:0,0:126,109:15,42:11,17:-,NM_014808.2(FARP2) c.3047+154delT:-,NOT_FOUND:-,NOT_FOUND 2 242433348 rs2018761 A G 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=FARP2/NM_014808.3/1;CC=c.3048-75A>G;VC=Intron;DM=FARP2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:23:0:0:24:700:81.31:70.73:10.58:1.00:1.00:1.00:60:31.0:0:0:69:81:35:NM_014808.2(FARP2) c.3048-75A>G,NM_014808.2(FARP2) c.3048-75A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 2 242433541 . C . . NT END=242435076;NT GT ./. 2 242435117 . C . . NT END=242435812;NT GT ./. 2 242435950 . C . . NT END=242437030;NT GT ./. 2 242437103 . C . . NT END=242437649;NT GT ./. 2 242437228 rs33961871 C T 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=STK25/NM_001271978.1/0;CC=c.1033-126G>A;VC=Intron;Gene=STK25/NM_001271977.1/0;CC=c.1033-126G>A;VC=Intron;Gene=STK25/NM_001271979.1/0;CC=c.802-126G>A;VC=Intron;Gene=STK25/NM_001271980.1/0;CC=c.802-126G>A;VC=Intron;Gene=STK25/NM_001282306.1/0;CC=c.811-126G>A;VC=Intron;Gene=STK25/NM_001282307.1/0;CC=c.751-126G>A;VC=Intron;Gene=STK25/NM_001282308.1/0;CC=c.751-126G>A;VC=Intron;Gene=STK25/NM_006374.4/1;CC=c.1033-126G>A;VC=Intron;Gene=STK25/NM_001282305.1/0;CC=c.751-126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,T:15:2:0:0:9,6:284,185:0.00,16.98:0.00,-0.33:0.00,17.31:0.00,0.96:0.00,0.70:0.00,1.00:60,60:0.9,54.8:0,0:0,0:95,100:56,51:44,17:-,NM_006374.3(STK25) c.1033-126G>A:-,0.14:-,NOT_FOUND 2 242437765 . C . . NT END=242438053;NT GT ./. 2 242438200 . C . . NT END=242438403;NT GT ./. 2 242438590 . C . . NT END=242438671;NT GT ./. 2 242438830 . C . . NT END=242439587;NT GT ./. 2 242439071 rs2279846 G A 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;Gene=STK25/NM_001271978.1/0;CC=c.428-242C>T;VC=Intron;Gene=STK25/NM_001271977.1/0;CC=c.428-242C>T;VC=Intron;Gene=STK25/NM_001271979.1/0;CC=c.197-242C>T;VC=Intron;Gene=STK25/NM_001271980.1/0;CC=c.197-242C>T;VC=Intron;Gene=STK25/NM_001282306.1/0;CC=c.206-242C>T;VC=Intron;Gene=STK25/NM_001282307.1/0;CC=c.146-242C>T;VC=Intron;Gene=STK25/NM_001282308.1/0;CC=c.146-242C>T;VC=Intron;Gene=STK25/NM_006374.4/1;CC=c.428-242C>T;VC=Intron;Gene=STK25/NM_001282305.1/0;CC=c.146-242C>T;VC=Intron;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:A:18:0:0:0:18:432:51.53:0.00:51.53:1.00:0.00:1.00:60:37.4:0:0:115:35:15:NM_006374.3(STK25) c.428-242C>T,NM_006374.3(STK25) c.428-242C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 2 242439697 . C . . NT END=242440154;NT GT ./. 2 242439938 rs35256094 A C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=STK25/NM_001271978.1/0;CC=c.318+217T>G;VC=Intron;Gene=STK25/NM_001271977.1/0;CC=c.318+217T>G;VC=Intron;Gene=STK25/NM_001271979.1/0;CC=c.87+217T>G;VC=Intron;Gene=STK25/NM_001271980.1/0;CC=c.87+217T>G;VC=Intron;Gene=STK25/NM_001282306.1/0;CC=c.96+217T>G;VC=Intron;Gene=STK25/NM_001282307.1/0;CC=c.36+217T>G;VC=Intron;Gene=STK25/NM_001282308.1/0;CC=c.36+217T>G;VC=Intron;Gene=STK25/NM_006374.4/1;CC=c.318+217T>G;VC=Intron;Gene=STK25/NM_001282305.1/0;CC=c.36+217T>G;VC=Intron;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:A,C:10:3:0:0:4,6:96,153:0.00,15.25:0.00,2.79:0.00,12.46:0.00,0.99:0.00,0.94:0.00,1.00:60,60:17.8,56.5:0,0:0,0:89,100:59,48:18,36:-,NM_006374.3(STK25) c.318+217T>G:-,0.1:-,NOT_FOUND 2 242440212 . C . . NT END=242440892;NT GT ./. 2 242440221 rs13013693 G A 139 nt VT=SNV;PN=G;NN=A;SST=Single;DP=86;DB;DBA=NA;PAF=NA;PC=0.259;Gene=STK25/NM_001271978.1/0;CC=c.262-10C>T;VC=Intron;Gene=STK25/NM_001271977.1/0;CC=c.262-10C>T;VC=Intron;Gene=STK25/NM_001271979.1/0;CC=c.31-10C>T;VC=Intron;Gene=STK25/NM_001271980.1/0;CC=c.31-10C>T;VC=Intron;Gene=STK25/NM_001282306.1/0;CC=c.40-10C>T;VC=Intron;Gene=STK25/NM_001282307.1/0;CC=c.-21-10C>T;VC=Intron;Gene=STK25/NM_001282308.1/0;CC=c.-21-10C>T;VC=Intron;Gene=STK25/NM_006374.4/1;CC=c.262-10C>T;VC=Intron;Gene=STK25/NM_001282305.1/0;CC=c.-21-10C>T;VC=Intron;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:59:0:0:45,41:1432,1325:138.79,0.00:64.00,0.00:74.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,10.2:0,0:0,0:96,99:49,44:21,33:NM_006374.3(STK25) c.262-10C>T,-:0.16,-:0.214363,- 2 242440663 rs2279845 G A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=STK25/NM_001271978.1/0;CC=c.261+230C>T;VC=Intron;Gene=STK25/NM_001271977.1/0;CC=c.261+230C>T;VC=Intron;Gene=STK25/NM_001271979.1/0;CC=c.31-452C>T;VC=Intron;Gene=STK25/NM_001271980.1/0;CC=c.31-452C>T;VC=Intron;Gene=STK25/NM_001282306.1/0;CC=c.39+280C>T;VC=Intron;Gene=STK25/NM_001282307.1/0;CC=c.-22+230C>T;VC=Intron;Gene=STK25/NM_001282308.1/0;CC=c.-22+230C>T;VC=Intron;Gene=STK25/NM_006374.4/1;CC=c.261+230C>T;VC=Intron;Gene=STK25/NM_001282305.1/0;CC=c.-22+230C>T;VC=Intron;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase;DM=STK25/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:0:6:183:21.16:13.60:7.55:1.00:1.00:1.00:60:81.3:0:0:80:70:16:NM_006374.3(STK25) c.261+230C>T,NM_006374.3(STK25) c.261+230C>T:0.36,0.36:NOT_FOUND,NOT_FOUND 2 242441124 . C . . NT END=242447420;NT GT ./. 2 242447138 rs35654218 G C 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=STK25/NM_001271978.1/0;CC=c.30+283C>G;VC=Intron;Gene=STK25/NM_001271977.1/0;CC=c.30+283C>G;VC=Intron;Gene=STK25/NM_001271979.1/0;CC=c.30+283C>G;VC=Intron;Gene=STK25/NM_001271980.1/0;CC=c.30+283C>G;VC=Intron;Gene=STK25/NM_001282306.1/0;CC=c.-143+283C>G;VC=Intron;Gene=STK25/NM_001282307.1/0;CC=c.-253+720C>G;VC=Intron;Gene=STK25/NM_001282308.1/0;CC=c.-253+782C>G;VC=Intron;Gene=STK25/NM_006374.4/1;CC=c.30+283C>G;VC=Intron;Gene=STK25/NM_001282305.1/0;CC=c.-253+1500C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:C,G:6:6:0:0:3,3:94,76:9.03,0.00:9.03,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:31.3,56.3:0,0:0,0:31,2:120,149:6,0:NM_006374.3(STK25) c.30+283C>G,-:0.04,-:NOT_FOUND,- 2 242447776 . c . . NT END=242447857;NT GT ./. 2 242448111 . A . . NT END=242498898;NT GT ./. 2 242498984 rs142158341 C G 195 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=3;PC=1.000;Gene=BOK/NM_032515.4/1;CC=c.86C>G;ProtCh=p.A29G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:124:101:0:0:61,62,1:2020,2027,9:0.00,195.23,-0.15:0.00,115.04,-0.06:0.00,80.18,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.0,40.4,152.0:0,0,0:0,0,0:75,55,32:76,88,94:32,32,0:-,NM_032515.4(BOK) c.86C>G (p.Ala29Gly):-,0.01:-,0.003663 2 242499119 . G . . NT END=242499485;NT GT ./. 2 242499680 . G . . NT END=242501762;NT GT ./. 2 242501892 . G . . NT END=242509539;NT GT ./. 2 242509704 . g . . NT END=242511711;NT GT ./. 2 242509774 . T C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;NP=2;PC=0.017;Gene=BOK/NM_032515.4/1;CC=c.513+71T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,G,T:34:9:0:0:3,3,28:95,36,731:6.66,0.94,0.00:1.37,1.14,0.00:5.28,-0.20,0.00:0.40,0.00,0.00:0.51,0.00,0.00:0.85,0.00,0.00:60,60,60:70.3,89.7,28.3:0,0,0:0,0,0:129,103,113:20,27,34:13,37,17:NM_032515.4(BOK) c.513+71T>C,-:NOT_FOUND,-:NOT_FOUND,- 2 242511838 . G . . NT END=242524020;NT GT ./. 2 242524141 . C . . NT END=242541229;NT GT ./. 2 242541415 . C . . NT END=242542384;NT GT ./. 2 242542495 . C . . NT END=242545728;NT GT ./. 2 242545889 . C . . NT END=242556826;NT GT ./. 2 242556917 . T . . NT END=242572331;NT GT ./. 2 242573211 rs7424328 T C 223 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=155;DB;DBA=NA;PAF=NA;Gene=THAP4/NM_015963.5/1;CC=c.361A>G;ProtCh=p.S121G;VC=Missense;DM=THAP4/DUF1794 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:155:109:0:0:76,79:2331,2580:222.63,0.00:132.33,0.00:90.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,11.0:0,0:0,0:84,84:65,64:44,37:NM_015963.5(THAP4) c.361A>G (p.Ser121Gly),-:0.6,-:0.470765,- 2 242573495 . C . . NT END=242576355;NT GT ./. 2 242576754 . G . . NT END=242576865;NT GT ./. 2 242577022 rs4675796 C T 272 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=204;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:204:121:0:0:112,3,89:3400,29,2894:0.00,-0.29,272.00:0.00,-0.30,109.71:0.00,0.01,162.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.7,148.7,49.6:0,0,0:0,0,0:64,116,61:83,31,90:33,9,31:-,NM_013325.4(ATG4B) c.-103-u5C>T:-,0.22:-,NOT_FOUND 2 242577140 . G . . NT END=242590424;NT GT ./. 2 242590237 rs4464318 T C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.002;Gene=ATG4B/NM_013325.4/0;CC=c.11-188T>C;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.11-188T>C;VC=Intron;DM=ATG4B/Peptidase_C54;DM=ATG4B/Peptidase_C54;DM=ATG4B/Peptidase_C54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:C,T:9:9:0:0:5,4:159,105:15.63,0.00:15.63,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:47.0,33.0:0,0:0,0:78,59:73,92:32,2:NM_013325.4(ATG4B) c.11-188T>C,-:0.64,-:NOT_FOUND,- 2 242590527 . G . . NT END=242590678;NT GT ./. 2 242590751 . G . . NT END=242591298;NT GT ./. 2 242591390 . G . . NT END=242592721;NT GT ./. 2 242592785 . G . . NT END=242592926;NT GT ./. 2 242593026 . G . . NT END=242593960;NT GT ./. 2 242594063 . G . . NT END=242594685;NT GT ./. 2 242594622 rs6712888 C T 47 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=ATG4B/NM_013325.4/0;CC=c.386-64C>T;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.386-64C>T;VC=Intron;DM=ATG4B/Peptidase_C54;DM=ATG4B/Peptidase_C54;DM=ATG4B/Peptidase_C54;DM=ATG4B/Peptidase_C54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:33:0:0:19,16:592,499:0.00,47.04:0.00,39.09:0.00,7.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,34.2:0,0:0,0:58,40:93,110:29,21:-,NM_013325.4(ATG4B) c.386-64C>T:-,0.31:-,0.33399 2 242594759 . G . . NT END=242598522;NT GT ./. 2 242598603 . G . . NT END=242606059;NT GT ./. 2 242606036 rs6709768 G C 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;Gene=ATG4B/NM_013325.4/0;CC=c.539-24G>C;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.539-24G>C;VC=Intron;DM=ATG4B/Peptidase_C54;DM=ATG4B/Peptidase_C54;DM=ATG4B/Peptidase_C54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:60:54:0:0:25,35:824,1113:76.63,0.00:49.59,0.00:27.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,4.1:0,0:0,0:56,62:95,89:25,28:NM_013325.4(ATG4B) c.539-24G>C,-:0.36,-:0.390474,- 2 242606254 . G . . NT END=242607557;NT GT ./. 2 242607483 rs7565540 G T 81 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.089;Gene=ATG4B/NM_013325.4/0;CC=c.733-75G>T;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.733-75G>T;VC=Intron;DM=ATG4B/Peptidase_C54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:53:49:0:0:25,28:762,836:0.00,81.03:0.00,52.67:0.00,28.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,70.5:0,0:0,0:36,32:113,117:20,14:-,NM_013325.4(ATG4B) c.733-75G>T:-,0.33:-,NOT_FOUND 2 242607484 rs7592829 C T 80 nt VT=SNV;PN=G;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.050;Gene=ATG4B/NM_013325.4/0;CC=c.733-74C>T;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.733-74C>T;VC=Intron;DM=ATG4B/Peptidase_C54 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:49:0:0:26,27:824,830:0.00,79.91:0.00,52.69:0.00,27.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.3,71.3:0,0:0,0:51,34:99,116:31,19:-,NM_013325.4(ATG4B) c.733-74C>T:-,0.33:-,NOT_FOUND 2 242607637 . G . . NT END=242607954;NT GT ./. 2 242608101 . G . . NT END=242610140;NT GT ./. 2 242610198 . G . . NT END=242610726;NT GT ./. 2 242610405 rs7584112 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;Gene=ATG4B/NM_013325.4/0;CC=c.1014+208C>T;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.1014+208C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:11:3:0:0:6,5:181,161:0.00,15.19:0.00,5.81:0.00,9.39:0.00,0.93:0.00,0.85:0.00,0.99:60,60:6.8,78.0:0,0:0,0:108,101:40,48:24,19:-,NM_013325.4(ATG4B) c.1014+208C>T:-,0.36:-,NOT_FOUND 2 242610502 rs7557052 G T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;Gene=ATG4B/NM_013325.4/0;CC=c.1015-225G>T;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.1015-225G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:G,T:12:11:0:0:7,5:213,168:0.00,15.65:0.00,15.88:0.00,-0.23:0.00,0.92:0.00,0.99:0.00,0.61:60,60:6.0,115.8:0,0:0,0:27,47:124,104:20,44:-,NM_013325.4(ATG4B) c.1015-225G>T:-,0.58:-,NOT_FOUND 2 242610773 rs7601000 T A 210 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ATG4B/NM_013325.4/0;CC=c.1061T>A;ProtCh=p.L354Q;VC=Missense;Gene=ATG4B/NM_178326.2/1;CC=c.1061T>A;ProtCh=p.L354Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:145:114:0:0:68,77:2212,2544:210.10,0.00:141.62,0.00:68.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,7.8:0,0:0,0:47,65:96,78:29,36:NM_013325.4(ATG4B) c.1061T>A (p.Leu354Gln),-:0.86,-:0.834614,- 2 242611050 rs1130910 C G 240 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=169;DB;DBA=NA;PAF=NA;Gene=ATG4B/NM_013325.4/0;CC=c.1108+230C>G;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.1128+210C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:169:107:0:0:1,85,83:11,2447,2514:-0.14,0.00,240.42:-0.04,0.00,103.64:-0.10,0.00,136.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.0,17.0,40.8:0,0,0:0,0,0:110,92,74:39,54,77:0,38,35:-,NM_013325.4(ATG4B) c.1108+230C>G:-,0.36:-,NOT_FOUND 2 242611287 rs11538894 G A 202 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=166;DB;DBA=NA;PAF=NA;Gene=ATG4B/NM_013325.4/0;CC=c.1109-319G>A;VC=Intron;Gene=ATG4B/NM_178326.2/1;CC=c.1129-319G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:166:115:0:0:69,1,95,1:2174,10,2993,10:201.88,-0.18,0.00,-0.18:105.23,-0.13,0.00,-0.07:96.65,-0.05,0.00,-0.11:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:40.2,64.0,14.5,88.0:0,0,0,0:0,0,0,0:90,108,66,105:61,43,69,46:27,0,36,0:NM_013325.4(ATG4B) c.1109-319G>A,-:0.36,-:NOT_FOUND,- 2 242611680 . A . . NT END=242615541;NT GT ./. 2 242615462 rs5860 T C 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=NA;Gene=DTYMK/NM_001165031.1/1;CC=c.*80A>G;VC=3UTR;Gene=DTYMK/NM_012145.3/0;CC=c.*80A>G;VC=3UTR;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:42:0:0:14,29:425,888:37.41,0.00:37.66,0.00:-0.25,0.00:1.00,0.00:1.00,0.00:0.62,0.00:60,60:31.8,44.0:0,0:0,0:48,44:102,107:33,19:NM_012145.3(DTYMK) c.*80A>G,-:0.57,-:NOT_FOUND,- 2 242615481 rs1803265 C T 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=27;Gene=DTYMK/NM_001165031.1/1;CC=c.*61G>A;VC=3UTR;Gene=DTYMK/NM_012145.3/0;CC=c.*61G>A;VC=3UTR;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:63:60:0:0:27,1,35:856,5,1114:0.00,-0.15,109.60:0.00,-0.13,103.93:0.00,-0.02,5.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.1,33.0,42.5:0,0,0:0,0,0:27,97,57:124,52,94:20,0,28:-,NM_012145.3(DTYMK) c.*61G>A:-,0.01:-,NOT_FOUND 2 242615653 . C . . NT END=242617866;NT GT ./. 2 242615874 rs62190356 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=DTYMK/NM_001165031.1/1;CC=c.457-222A>G;VC=Intron;Gene=DTYMK/NM_012145.3/0;CC=c.529-222A>G;VC=Intron;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:5:0:0:0:3,2:102,64:10.17,0.00:0.00,0.00:10.17,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:38.3,3.0:0,0:0,0:101,124:50,26:40,15:NM_012145.3(DTYMK) c.529-222A>G,-:0.58,-:NOT_FOUND,- 2 242617792 rs4076640 A G 101 nt VT=SNV;PN=C;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=DTYMK/NM_001165031.1/1;CC=c.456+75T>C;VC=Intron;Gene=DTYMK/NM_012145.3/0;CC=c.528+75T>C;VC=Intron;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:81:78:0:0:43,37,1:1337,1074,13:0.00,101.03,-0.00:0.00,87.65,0.02:0.00,13.39,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.3,43.8,158.0:0,0,0:0,0,0:39,38,123:110,112,28:24,19,0:-,NM_012145.3(DTYMK) c.528+75T>C:-,0.58:-,NOT_FOUND 2 242618050 rs1131195 A G 259 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=154;DB;DBA=NA;PAF=NA;PC=0.003;Gene=DTYMK/NM_001165031.1/1;CC=c.331-58T>C;VC=Intron;Gene=DTYMK/NM_012145.3/0;CC=c.345T>C;ProtCh=p.D115=;VC=Silent;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:154:78:0:0:74,80:2320,2675:0.00,259.33:0.00,85.23:0.00,174.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,41.0:0,0:0,0:86,88:58,54:33,24:-,NM_012145.3(DTYMK) c.345T>C (p.(=)):-,0.36:-,0.3976 2 242618065 . C . . NT END=242619643;NT GT ./. 2 242618347 rs7369610 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;Gene=DTYMK/NM_001165031.1/1;CC=c.331-355T>C;VC=Intron;Gene=DTYMK/NM_012145.3/0;CC=c.331-283T>C;VC=Intron;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:118:13.69:0.00:13.69:1.00:0.00:1.00:60:32.0:0:0:131:19:13:NM_012145.3(DTYMK) c.331-283T>C,NM_012145.3(DTYMK) c.331-283T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 2 242619386 . C CCA 9 nt VT=INS;SST=Single;DP=9;NP=6;PC=0.013;Gene=DTYMK/NM_001165031.1/1;CC=c.330+257_330+258insTG;VC=Intron;Gene=DTYMK/NM_012145.3/0;CC=c.330+257_330+258insTG;VC=Intron;Gene=DTYMK/NR_033255.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,CCA,D:9:8:3:1:5,3,1:161,98,33:0.00,8.92,2.57:0.00,9.10,2.62:0.00,-0.18,-0.05:0.00,0.96,0.00:0.00,0.94,0.00:0.00,0.56,0.00:60,60,60:14.0,16.0,0.0:0,0,0:0,0,0:37,13,27:103,137,123:28,10,0:-,NM_012145.3(DTYMK) c.330+257_330+258insTG:-,NOT_FOUND:-,NOT_FOUND 2 242619735 . C . . NT END=242625183;NT GT ./. 2 242625293 . C . . NT END=242626068;NT GT ./. 2 242625413 rs62191287 A T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;Gene=DTYMK/NM_001165031.1/1;CC=c.131-121T>A;VC=Intron;Gene=DTYMK/NM_012145.3/0;CC=c.131-121T>A;VC=Intron;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,T:20:0:0:0:16,4:462,131:0.00,10.67:0.00,0.00:0.00,10.67:0.00,0.71:0.00,0.00:0.00,0.71:60,60:6.1,50.8:0,0:0,0:110,118:40,32:24,14:-,NM_012145.3(DTYMK) c.131-121T>A:-,0.36:-,NOT_FOUND 2 242625935 rs7370850 G C 132 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;Gene=DTYMK/NM_001165031.1/1;CC=c.130+134C>G;VC=Intron;Gene=DTYMK/NM_012145.3/0;CC=c.130+134C>G;VC=Intron;Gene=DTYMK/NR_033255.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:68:67:0:0:41,26,1:1316,793,31:131.64,0.00,1.59:127.36,0.00,1.60:4.28,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:46.4,20.5,43.0:0,0,0:0,0,0:61,69,61:89,80,89:32,32,0:NM_012145.3(DTYMK) c.130+134C>G,-:0.62,-:NOT_FOUND,- 2 242626199 . G . . NT END=242641480;NT GT ./. 2 242626479 rs35925884 C T 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:12:0:0:0:3,9:102,263:0.00,27.62:0.00,0.00:0.00,27.62:0.00,1.00:0.00,0.00:0.00,1.00:60,60:13.3,48.2:0,0:0,0:116,72:35,78:15,34:-,NM_012145.3(DTYMK) c.-185-u96G>A:-,0.36:-,NOT_FOUND 2 242637826 rs6751972 G A 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.049 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:3:0:0:3,1:81,34:8.53,0.00:3.50,0.00:5.03,0.00:0.85,0.00:0.99,0.00:0.85,0.00:60,60:58.7,0.0:1,0:0,0:36,13:115,137:11,0:NM_032329.4(ING5) c.-25-u3630G>A,-:0.37,-:NOT_FOUND,- 2 242637911 . AGTGTGTGT A 8 sb;idl,nt VT=DEL;SST=Single;DP=8;NP=6;PC=0.368;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:AGTGTGTGT,A:6:4:0:5:3,3:105,152:0.00,8.14:0.00,7.23:0.00,0.91:0.00,0.67:0.00,0.85:0.00,0.90:60,60:74.7,0.0:0,2:0,0:120,27:31,122:4,18:-,NM_032329.4(ING5) c.-25-u3544_-25-u3537delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 2 242641518 . G . . NT END=242644067;NT GT ./. 2 242644140 . G . . NT END=242648630;NT GT ./. 2 242644352 rs3935478 T C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.109+213T>C;VC=Intron;DM=ING5/ING GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:10:0:0:0:4,6:125,206:11.49,0.00:0.00,0.00:11.49,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:31.2,15.2:0,0:0,0:121,110:29,39:12,24:NM_032329.4(ING5) c.109+213T>C,-:0.66,-:NOT_FOUND,- 2 242648545 rs7595652 C T 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.110-86C>T;VC=Intron;DM=ING5/ING GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:34:0:0:20,14:621,383:0.00,34.95:0.00,30.41:0.00,4.54:0.00,1.00:0.00,1.00:0.00,0.95:60,60:21.6,65.1:0,0:0,0:45,33:104,117:23,21:-,NM_032329.4(ING5) c.110-86C>T:-,0.34:-,NOT_FOUND 2 242648549 rs7568408 G A 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.110-82G>A;VC=Intron;DM=ING5/ING GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:34:34:0:0:12,1,21:382,14,663:34.53,0.22,0.00:27.96,0.24,0.00:6.57,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.93,0.00,0.00:60,60,60:65.3,70.0,20.6:0,0,0:0,0,0:29,127,42:121,24,109:14,0,22:NM_032329.4(ING5) c.110-82G>A,-:0.34,-:NOT_FOUND,- 2 242648798 . G . . NT END=242650791;NT GT ./. 2 242648970 rs34226104 G GT 8 idl,rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=17;NP=3;PC=0.007;Gene=ING5/NM_032329.4/1;CC=c.276+191dupT;VC=Intron;DM=ING5/ING;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:G,T,GT,D:13:0:6:2:7,1,3,2:221,34,173,47:0.00,2.48,7.52,3.45:0.00,0.00,0.00,0.00:0.00,2.48,7.52,3.45:0.00,0.00,0.54,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.54,0.00:60,60,60,60:37.7,34.0,31.0,69.0:0,1,3,0:0,0,0,0:129,66,24,88:19,85,121,62:15,0,12,20:-,NM_032329.4(ING5) c.276+173_276+174insT:-,NOT_FOUND:-,NOT_FOUND 2 242650634 rs7371753 G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.277-158G>A;VC=Intron;DM=ING5/ING GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:7:7:0:0:5,2:135,72:14.00,0.00:14.00,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:63.0,0.0:0,0:0,0:48,58:103,93:35,14:NM_032329.4(ING5) c.277-158G>A,-:0.3,-:NOT_FOUND,- 2 242650904 . G . . NT END=242651392;NT GT ./. 2 242651487 . G . . NT END=242658897;NT GT ./. 2 242659554 rs34766121 C T 227 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=162;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ING5/NM_032329.4/1;CC=c.483-2800C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:162:104:0:0:86,76:2718,2395:0.00,227.11:0.00,121.09:0.00,106.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,52.4:0,0:0,0:86,69:59,80:38,37:-,NM_032329.4(ING5) c.483-2800C>T:-,0.14:-,NOT_FOUND 2 242659652 rs149341546 A C 230 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=NA;NP=17;Gene=ING5/NM_032329.4/1;CC=c.483-2702A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:159:97:0:0:82,76,1:2640,2409,9:0.00,229.53,-0.17:0.00,109.32,-0.04:0.00,120.20,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.2,50.5,29.0:0,0,0:0,0,0:59,96,141:86,47,10:36,34,0:-,NM_032329.4(ING5) c.483-2702A>C:-,0.01:-,NOT_FOUND 2 242660006 rs34452219 G A 228 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=152;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.483-2348G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:152:104:0:0:73,79:2394,2442:228.50,0.00:124.90,0.00:103.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,9.0:0,0:0,0:64,61:79,85:40,36:NM_032329.4(ING5) c.483-2348G>A,-:0.34,-:NOT_FOUND,- 2 242660688 rs7601057 C T 255 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.483-1666C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:167:100:0:0:88,79:2624,2674:0.00,255.04:0.00,111.38:0.00,143.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,37.4:0,0:0,0:80,84:67,66:32,33:-,NM_032329.4(ING5) c.483-1666C>T:-,0.33:-,NOT_FOUND 2 242661361 rs34030391 G A 201 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.483-993G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:149:97:0:0:69,80:2132,2533:201.40,0.00:96.15,0.00:105.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,8.4:0,0:0,0:93,55:58,93:38,38:NM_032329.4(ING5) c.483-993G>A,-:0.33,-:NOT_FOUND,- 2 242662348 . C . . NT END=242662353;NT GT ./. 2 242662490 . G . . NT END=242662624;NT GT ./. 2 242662687 . G . . NT END=242663205;NT GT ./. 2 242662761 rs7572153 T C 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.680+75T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:4:0:0:11,12:341,383:32.44,0.00:3.42,0.00:29.02,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:42.5,10.5:0,0:0,0:114,78:31,73:23,27:NM_032329.4(ING5) c.680+75T>C,-:0.7,-:NOT_FOUND,- 2 242663452 . T . . NT END=242664403;NT GT ./. 2 242663692 rs34930012 G C 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ING5/NM_032329.4/1;CC=c.681-712G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:C,G:11:0:0:0:9,2:196,70:21.50,0.00:0.00,0.00:21.50,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:55.3,13.0:0,0:0,0:75,107:76,43:25,29:NM_032329.4(ING5) c.681-712G>C,-:0.33,-:NOT_FOUND,- 2 242664184 rs5839765 TG T 26 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=252;Gene=ING5/NM_032329.4/1;CC=c.681-218delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:TG,T:12:12:0:8:4,8:100,254:0.00,25.92:0.00,25.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,35.8:0,0:0,0:7,47:143,103:4,33:-,NM_032329.4(ING5) c.681-219delG:-,0.71:-,NOT_FOUND 2 242664198 rs4425107 G A 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=ING5/NM_032329.4/1;CC=c.681-206G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:257,241:25.01,0.00:25.01,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.8,12.9:0,0:0,0:60,14:90,137:33,6:NM_032329.4(ING5) c.681-206G>A,-:0.7,-:NOT_FOUND,- 2 242664447 . G . . NT END=242674639;NT GT ./. 2 242674549 rs62191976 C G 88 nt VT=SNV;PN=G;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=D2HGDH/NM_001287249.1/0;CC=c.-111+439C>G;VC=Intron;Gene=D2HGDH/NM_152783.4/1;CC=c.-91C>G;VC=5UTR;Gene=D2HGDH/NR_109778.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:81:79:0:0:1,47,33:10,1533,955:-0.13,0.00,87.64:-0.09,0.00,81.05:-0.03,0.00,6.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:114.0,13.5,40.4:0,0,0:0,0,0:46,34,39:71,114,112:0,25,26:-,NM_152783.3(D2HGDH) c.-91C>G:-,0.04:-,NOT_FOUND 2 242674933 . T . . NT END=242680447;NT GT ./. 2 242674959 rs62191977 T G 166 nt VT=SNV;PN=G;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=NA;Gene=D2HGDH/NM_001287249.1/0;CC=c.-111+849T>G;VC=Intron;Gene=D2HGDH/NM_152783.4/1;CC=c.292+28T>G;VC=Intron;Gene=D2HGDH/NR_109778.1/0;VC=NonCoding;DM=D2HGDH/FAD_binding_4;DM=D2HGDH/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:120:52:0:0:57,63:1747,1894:165.76,0.00:45.86,0.00:119.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.8,9.4:0,0:0,0:90,103:58,43:30,27:NM_152783.3(D2HGDH) c.292+28T>G,-:0.73,-:0.726715,- 2 242680507 . T . . NT END=242681849;NT GT ./. 2 242681991 . T . . NT END=242683036;NT GT ./. 2 242683232 . T . . NT END=242684123;NT GT ./. 2 242684294 . T . . NT END=242688241;NT GT ./. 2 242684394 rs4675884 G C 44 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=D2HGDH/NM_001287249.1/0;CC=c.451+102G>C;VC=Intron;Gene=D2HGDH/NM_152783.4/1;CC=c.853+102G>C;VC=Intron;Gene=D2HGDH/NR_109778.1/0;VC=NonCoding;DM=D2HGDH/FAD-oxidase_C;DM=D2HGDH/FAD-oxidase_C;DM=D2HGDH/FAD-oxidase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:6:0:2:15,17:467,579:44.24,0.00:7.79,0.00:36.45,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:34.2,5.2:0,0:0,0:123,120:28,29:15,20:NM_152783.3(D2HGDH) c.853+102G>C,-:0.95,-:NOT_FOUND,- 2 242688424 . G . . NT END=242688713;NT GT ./. 2 242688815 . G . . NT END=242689565;NT GT ./. 2 242689711 . T . . NT END=242690660;NT GT ./. 2 242690804 . G . . NT END=242694459;NT GT ./. 2 242695431 . T . . NT END=242707124;NT GT ./. 2 242707385 . C . . NT END=242716370;NT GT ./. 2 242716400 . G . . NT END=242738479;NT GT ./. 2 242738570 . G . . NT END=242741195;NT GT ./. 2 242741452 . G . . NT END=242742759;NT GT ./. 2 242743582 . A . . NT END=242750302;NT GT ./. 2 242743651 rs744986 G A 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;Gene=GAL3ST2/NM_022134.2/1;CC=c.*70G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:5:0:0:26,19:879,567:87.04,0.00:5.23,0.00:81.81,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:41.5,15.4:0,0:0,0:96,92:54,59:31,39:NM_022134.2(GAL3ST2) c.*70G>A,-:0.35,-:NOT_FOUND,- 2 242750370 . G . . NT END=242752029;NT GT ./. 2 242752557 . G . . NT END=242754470;NT GT ./. 2 242754652 . G . . NT END=242755675;NT GT ./. 2 242755883 . G . . NT END=242756088;NT GT ./. 2 242756345 . G . . NT END=242757376;NT GT ./. 2 242758375 . C . . NT END=242793209;NT GT ./. 2 242793450 . C . . NT END=242794100;NT GT ./. 2 242794136 . C . . NT END=242794349;NT GT ./. 2 242794506 . C . . NT END=242794772;NT GT ./. 2 242795133 . C . . NT END=242800914;NT GT ./. 2 242800991 . G . . NT END=242811908;NT GT ./. 2 242812067 . G . . NT END=242813865;NT GT ./. 2 242815427 . C . . NT END=242836363;NT GT ./. 2 242836491 . C . . NT END=242839336;NT GT ./. 2 242838705 rs62191177 T A,G 7 mq,nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:59:A,G:4:4:0:0:2,2:67,60:7.05,6.35:7.05,6.35:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:10,18:189.0,129.5:0,0:0,0:30,55:89,54:0,1:chr2 g.242838704T>A (intergenic),chr2 g.242838704T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242838710 . T G 15 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;PC=0.001;Gene=LINC01237/NR_110220.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:127:14.61:14.61:0.00:1.00:1.00:0.00:18:159.2:0:0:47:75:12:chr2 g.242838709T>G (intergenic),chr2 g.242838709T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242838751 rs140370959 A T 14 mq,nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=5;Gene=LINC01237/NR_110220.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:10:208.8:2:0:77:42:11:chr2 g.242838750A>T (intergenic),chr2 g.242838750A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242838752 rs145302698 A G 16 mq,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=7;Gene=LINC01237/NR_110220.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:10:208.8:2:0:78:41:11:chr2 g.242838751A>G (intergenic),chr2 g.242838751A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 242839486 . C . . NT END=242841265;NT GT ./. 2 242841482 . C . . NT END=243199373;NT GT ./. 2 242964988 rs59655971 A T 12 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.014;Gene=LINC01237/NR_110220.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:103:12.19:10.26:1.94:1.00:1.00:1.00:60:67.8:0:0:63:75:11:chr2 g.242964987A>T (intergenic),chr2 g.242964987A>T (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 2 243031275 rs13353359 A T 357 nt VT=SNV;PN=G;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=NA;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:112:85:0:0:5,107:53,3091:1.89,357.38:1.02,206.72:0.87,150.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:89.8,58.0:0,0:0,0:76,69:74,77:60,26:NR_024437.1(LOC728323) n.109+323A>T,NR_024437.1(LOC728323) n.109+323A>T:0.67,0.67:NOT_FOUND,NOT_FOUND 2 243031377 rs12719763 A G 338 nt VT=SNV;PN=G;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=NA;PC=0.016;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:93:39:0:0:91,2:2953,28:337.53,0.84:83.95,0.61:253.58,0.23:1.00,0.00:1.00,0.00:1.00,0.00:56,58:55.2,164.0:0,0:0,0:89,62:56,72:31,35:NR_024437.1(LOC728323) n.109+425A>G,NR_024437.1(LOC728323) n.109+425A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 2 243037022 rs147597270 A T 22 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=399;PC=0.001;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:42:39:0:0:34,8:1087,270:0.00,21.94:0.00,21.19:0.00,0.75:0.00,0.97:0.00,1.00:0.00,0.93:60,49:8.6,52.8:0,0:0,0:54,99:96,50:30,9:-,NR_024437.1(LOC728323) n.110-16A>T:-,NOT_FOUND:-,NOT_FOUND 2 243037115 rs573201469 A G 19 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=62;PC=1.000;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:A,G:60:37:0:0:53,7:1722,246:0.00,18.56:0.00,-1.46:0.00,20.02:0.00,0.91:0.00,0.96:0.00,0.98:60,21:3.9,71.7:0,0:0,0:77,51:72,100:43,16:-,NR_024437.1(LOC728323) n.187A>G:-,NOT_FOUND:-,NOT_FOUND 2 243037116 rs540310927 T A 16 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=66;PC=1.000;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:A,G,T:60:37:0:0:7,1,52:216,11,1679:15.62,-0.19,0.00:-1.40,0.00,0.00:17.03,-0.19,0.00:0.91,0.00,0.00:0.96,0.00,0.00:0.98,0.00,0.00:21,50,60:71.7,25.0,3.5:0,0,0:0,0,0:52,9,72:99,141,78:16,0,41:NR_024437.1(LOC728323) n.188T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 243056808 rs62192205 T A 19 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=1.000;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:17:0:0:7,16:216,545:18.80,0.00:4.82,0.00:13.98,0.00:0.97,0.00:0.99,0.00:0.99,0.00:44,60:64.0,2.1:0,0:0,0:5,48:146,90:3,23:NR_024437.1(LOC728323) n.269T>A,-:NOT_FOUND,-:NOT_FOUND,- 2 243056818 rs62192206 C T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=5;PC=0.997;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,T:25:19:0:0:18,7:623,211:0.00,18.00:0.00,4.93:0.00,13.07:0.00,0.96:0.00,0.99:0.00,0.99:60,44:3.0,63.9:0,0:0,0:55,15:88,136:28,3:-,NR_024437.1(LOC728323) n.279C>T:-,NOT_FOUND:-,NOT_FOUND 2 243064769 rs78219999 T C 23 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.975;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:40:39.0:0:0:90:59:15:NR_024437.1(LOC728323) n.615+163T>C,NR_024437.1(LOC728323) n.615+163T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 2 243084121 rs368428583 T TCA 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=311;PC=0.001;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TCA:5:3:5:0:5:116:13.68:5.35:8.33:1.00:1.00:1.00:52:64.6:0:0:65:83:16:NR_024437.1(LOC728323) n.616-17374_616-17373insCA,NR_024437.1(LOC728323) n.616-17374_616-17373insCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 2 243084152 rs62192232 C T 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;Gene=LOC728323/NR_130699.1/0;VC=NonCoding;Gene=LOC728323/NR_130700.1/0;VC=NonCoding;Gene=LOC728323/NR_130701.1/0;VC=NonCoding;Gene=LOC728323/NR_130702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:5:3:0:0:1,4:35,132:0.00,14.02:0.00,7.36:0.00,6.66:0.00,0.96:0.00,0.99:0.00,1.00:25,52:55.0,59.8:0,0:0,0:98,88:50,39:0,23:-,NR_024437.1(LOC728323) n.616-17343C>T:-,NOT_FOUND:-,NOT_FOUND 3 1 . N . . NT END=361459;NT GT ./. 3 86029 . T TTG 16 nt VT=INS;SST=Single;DP=6;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:T,TTG:6:5:5:0:1,5:34,152:0.00,16.41:0.00,8.20:0.00,8.20:0.00,0.99:0.00,1.00:0.00,1.00:60,70:66.0,79.8:0,0:0,0:57,88:94,60:0,3:-,chr3 g.86029_86030insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 86030 rs9310788 A T 23 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=22;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:198:22.66:11.13:11.53:1.00:1.00:1.00:60:83.0:5:0:86:64:2:chr3 g.86029A>T (intergenic),chr3 g.86029A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 86038 rs9310789 A T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:204:23.26:11.48:11.78:1.00:1.00:1.00:60:83.0:0:0:94:56:2:chr3 g.86037A>T (intergenic),chr3 g.86037A>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 256639 rs5845953 G GCACA 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;NP=62;PC=0.003;Gene=CHL1/NM_001253387.1/0;CC=c.-175+17920_-175+17921insACAC;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.-175+17920_-175+17921insACAC;VC=Intron;Gene=CHL1/NR_045572.1/0;VC=NonCoding;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GCACA:4:2:3:0:1,3:36,100:0.00,10.45:0.00,3.15:0.00,7.30:0.00,0.85:0.00,0.95:0.00,0.95:60,60:50.0,0.0:0,0:0,0:74,31:77,119:0,18:-,NM_006614.3(CHL1) c.-175+17893_-175+17894insCACA:-,NOT_FOUND:-,NOT_FOUND 3 361551 . G . . NT END=367641;NT GT ./. 3 367748 . G . . NT END=369849;NT GT ./. 3 370038 . G . . NT END=382476;NT GT ./. 3 382600 . G . . NT END=383594;NT GT ./. 3 383766 . G . . NT END=384666;NT GT ./. 3 383936 rs9877555 T C 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.009984,C/0.99;NP=779;Gene=CHL1/NM_001253387.1/0;CC=c.679+171T>C;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.679+171T>C;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.679+171T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:297:33.99:0.00:33.99:1.00:0.00:1.00:60:36.6:0:0:83:68:39:NM_006614.3(CHL1) c.679+171T>C,NM_006614.3(CHL1) c.679+171T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 384715 . G . . NT END=386271;NT GT ./. 3 386149 rs201199016 A AACAC 20 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=125;NP=18;Gene=CHL1/NM_001253387.1/0;CC=c.680-99_680-98insACAC;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.728-99_728-98insACAC;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.728-99_728-98insACAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,C,AACAC:11:11:7:0:3,1,7:93,29,192:0.00,2.21,19.62:0.00,2.21,17.78:0.00,0.00,1.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.76:60,60,60:2.3,153.0,20.6:0,0,0:0,0,0:128,0,87:23,150,64:10,0,26:-,NM_006614.3(CHL1) c.728-123_728-122insACAC:-,NOT_FOUND:-,NOT_FOUND 3 386393 . G . . NT END=391041;NT GT ./. 3 386520 rs1499046 C T 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.4778,T/0.5222;PC=0.001;Gene=CHL1/NM_001253387.1/0;CC=c.800+128C>T;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.848+128C>T;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.848+128C>T;VC=Intron;DM=CHL1/I-set;DM=CHL1/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:1:0:0:12:404:46.12:3.68:42.45:1.00:1.00:1.00:60:36.3:0:0:82:67:38:NM_006614.3(CHL1) c.848+128C>T,NM_006614.3(CHL1) c.848+128C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 3 390869 rs11706228 T C 50 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1643,C/0.8357;Gene=CHL1/NM_001253387.1/0;CC=c.801-173T>C;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.849-173T>C;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.849-173T>C;VC=Intron;DM=CHL1/I-set;DM=CHL1/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:439:50.10:50.10:0.00:1.00:1.00:0.00:60:40.0:0:0:74:77:36:NM_006614.3(CHL1) c.849-173T>C,NM_006614.3(CHL1) c.849-173T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 391100 rs13060847 A G 317 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.149,G/0.851;PC=0.017;Gene=CHL1/NM_001253387.1/0;CC=c.859A>G;ProtCh=p.T287A;VC=Missense;Gene=CHL1/NM_006614.3/1;CC=c.907A>G;ProtCh=p.T303A;VC=Missense;Gene=CHL1/NM_001253388.1/0;CC=c.907A>G;ProtCh=p.T303A;VC=Missense;DM=CHL1/I-set;DM=CHL1/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:59:0:0:83:2776:317.07:170.57:146.51:1.00:1.00:1.00:60:41.6:0:0:79:67:29:NM_006614.3(CHL1) c.907A>G (p.Thr303Ala),NM_006614.3(CHL1) c.907A>G (p.Thr303Ala):0.87,0.87:0.83769,0.83769 3 391227 . G . . NT END=396322;NT GT ./. 3 396116 rs67415962 GCACA G 23 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=917;Gene=CHL1/NM_001253387.1/0;CC=c.986-183_986-180delACAC;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1034-183_1034-180delACAC;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1034-183_1034-180delACAC;VC=Intron;DM=CHL1/I-set;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:GCACA,G:9:9:0:7:2,7:57,220:0.00,23.26:0.00,23.26:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:71.0,29.4:0,0:0,0:130,68:5,83:4,18:-,NM_006614.3(CHL1) c.1034-206_1034-203delCACA:-,NOT_FOUND:-,NOT_FOUND 3 396455 . G . . NT END=401966;NT GT ./. 3 402108 . G . . NT END=403381;NT GT ./. 3 402273 rs5845966 C CT 7 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4451,CT/0.5549;DB;DBA=NA;PAF=C/0.4451,CT/0.5549;NP=1;NP=289;PC=0.002;Gene=CHL1/NM_001253387.1/0;CC=c.1258+178_1258+179insT;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1306+178_1306+179insT;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1306+178_1306+179insT;VC=Intron;DM=CHL1/I-set;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,CT:9:0:3:0:6,3:185,82:0.00,7.14:0.00,0.00:0.00,7.14:0.00,0.64:0.00,0.00:0.00,0.64:60,60:17.8,35.7:0,0:0,0:113,123:34,28:30,8:-,NM_006614.3(CHL1) c.1306+166_1306+167insT:-,NOT_FOUND:-,NOT_FOUND 3 402283 rs59473555 T TA 9 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.6751,TA/0.3249;NP=1;NP=1;NP=501;PC=0.026;Gene=CHL1/NM_001253387.1/0;CC=c.1258+176_1258+177insA;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1306+176_1306+177insA;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1306+176_1306+177insA;VC=Intron;DM=CHL1/I-set;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:T,TA:8:0:3:0:5,3:137,98:0.00,8.94:0.00,0.00:0.00,8.94:0.00,0.67:0.00,0.00:0.00,0.67:60,60:21.4,35.7:0,0:0,0:142,80:8,68:6,2:-,NM_006614.3(CHL1) c.1306+176_1306+177insA:-,0.35:-,NOT_FOUND 3 403288 rs9824311 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=CHL1/NM_001253387.1/0;CC=c.1259-94G>A;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1307-94G>A;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1307-94G>A;VC=Intron;DM=CHL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:19:0:0:10,9:330,252:32.09,0.00:28.54,0.00:3.55,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:126.8,46.9:0,0:0,0:52,69:96,82:14,34:NM_006614.3(CHL1) c.1307-94G>A,-:0.59,-:NOT_FOUND,- 3 403297 rs9839027 C A 39 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4421,A/0.5579;Gene=CHL1/NM_001253387.1/0;CC=c.1259-85C>A;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1307-85C>A;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1307-85C>A;VC=Intron;DM=CHL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:21:21:0:0:12,9:394,301:38.90,0.00:33.29,0.00:5.60,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:128.2,34.8:0,0:0,0:56,44:95,107:31,34:NM_006614.3(CHL1) c.1307-85C>A,-:0.59,-:NOT_FOUND,- 3 403308 rs9824442 G A 43 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4427,A/0.5573;PC=0.001;Gene=CHL1/NM_001253387.1/0;CC=c.1259-74G>A;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1307-74G>A;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1307-74G>A;VC=Intron;DM=CHL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:21:0:0:13,10:436,290:42.98,0.00:32.45,0.00:10.53,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:123.0,43.6:0,0:0,0:70,49:81,101:31,35:NM_006614.3(CHL1) c.1307-74G>A,-:0.59,-:NOT_FOUND,- 3 403345 rs9846775 A G 106 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.02776,G/0.9722;Gene=CHL1/NM_001253387.1/0;CC=c.1259-37A>G;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1307-37A>G;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1307-37A>G;VC=Intron;DM=CHL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:G,T:30:27:0:0:29,1:924,13:105.79,0.45:72.76,0.45:33.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.9,146.0:0,0:0,0:47,138:101,13:19,0:NM_006614.3(CHL1) c.1307-37A>G,NM_006614.3(CHL1) c.1307-37A>G:0.98,0.98:0.966631,0.966631 3 403494 . G . . NT END=404899;NT GT ./. 3 404771 rs4684390 C T 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;Gene=CHL1/NM_001253387.1/0;CC=c.1371-129C>T;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1419-129C>T;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1419-129C>T;VC=Intron;DM=CHL1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:19:0:0:19:579:66.95:66.95:0.00:1.00:1.00:0.00:60:34.2:0:0:43:108:36:NM_006614.3(CHL1) c.1419-129C>T,NM_006614.3(CHL1) c.1419-129C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 405067 . G . . NT END=407632;NT GT ./. 3 405202 rs2387180 A T 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.02256,T/0.9774;Gene=CHL1/NM_001253387.1/0;CC=c.1537+136A>T;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.1585+136A>T;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.1585+136A>T;VC=Intron;Gene=CHL1-AS1/NR_110739.1/0;VC=NonCoding;DM=CHL1/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:452:51.87:0.00:51.87:1.00:0.00:1.00:60:41.9:0:0:81:69:45:NM_006614.3(CHL1) c.1585+136A>T,NM_006614.3(CHL1) c.1585+136A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 407799 . G . . NT END=419500;NT GT ./. 3 419626 . G . . NT END=423861;NT GT ./. 3 423964 . G . . NT END=424156;NT GT ./. 3 424355 . G . . NT END=425498;NT GT ./. 3 425570 . G . . NT END=430934;NT GT ./. 3 430682 rs4685668 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1651,C/0.8349;Gene=CHL1/NM_001253387.1/0;CC=c.2200-253T>C;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.2248-253T>C;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.2248-253T>C;VC=Intron;DM=CHL1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:39.8:0:0:24:127:8:NM_006614.3(CHL1) c.2248-253T>C,NM_006614.3(CHL1) c.2248-253T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 430729 rs11322571 GA G 31 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=GA/0.119,G/0.881;NP=523;Gene=CHL1/NM_001253387.1/0;CC=c.2200-205delA;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.2248-205delA;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.2248-205delA;VC=Intron;DM=CHL1/fn3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:10:10:259:30.64:30.64:0.00:1.00:1.00:0.00:70:40.6:0:0:37:114:27:NM_006614.3(CHL1) c.2248-205delA,NM_006614.3(CHL1) c.2248-205delA:0.9,0.9:NOT_FOUND,NOT_FOUND 3 431158 . G . . NT END=432383;NT GT ./. 3 431363 rs4685670 T C 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1717,C/0.8283;Gene=CHL1/NM_001253387.1/0;CC=c.2422+206T>C;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.2470+206T>C;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.2470+206T>C;VC=Intron;DM=CHL1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:267:30.52:0.00:30.52:1.00:0.00:1.00:60:45.2:0:0:115:35:28:NM_006614.3(CHL1) c.2470+206T>C,NM_006614.3(CHL1) c.2470+206T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 432500 . G . . NT END=432637;NT GT ./. 3 432843 . G . . NT END=433357;NT GT ./. 3 433481 . G . . NT END=436375;NT GT ./. 3 436556 . G . . NT END=439909;NT GT ./. 3 439963 rs6442827 A G 123 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.04153,G/0.9585;PC=0.573;Gene=CHL1/NM_001253387.1/0;CC=c.3100A>G;ProtCh=p.I1034V;VC=Missense;Gene=CHL1/NM_006614.3/1;CC=c.3148A>G;ProtCh=p.I1050V;VC=Missense;Gene=CHL1/NM_001253388.1/0;CC=c.3095-737A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:25:0:0:33:1077:123.38:75.02:48.36:1.00:1.00:1.00:60:51.1:0:0:107:39:25:NM_006614.3(CHL1) c.3148A>G (p.Ile1050Val),NM_006614.3(CHL1) c.3148A>G (p.Ile1050Val):0.96,0.96:0.960787,0.960787 3 440028 rs6771714 T C 62 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.03115,C/0.9688,G/.;PC=0.997;Gene=CHL1/NM_001253387.1/0;CC=c.3165T>C;ProtCh=p.N1055=;VC=Silent;Gene=CHL1/NM_006614.3/1;CC=c.3213T>C;ProtCh=p.N1071=;VC=Silent;Gene=CHL1/NM_001253388.1/0;CC=c.3095-672T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:12:0:0:19:531:62.00:35.52:26.47:1.00:1.00:1.00:60:69.2:0:0:80:70:43:NM_006614.3(CHL1) c.3213T>C (p.(=)),NM_006614.3(CHL1) c.3213T>C (p.(=)):0.97,0.97:0.972167,0.972167 3 440069 . G . . NT END=440699;NT GT ./. 3 440088 rs6771803 T A 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.03095,A/0.969;PC=0.040;Gene=CHL1/NM_001253387.1/0;CC=c.3205+20T>A;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.3253+20T>A;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.3095-612T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:9:0:0:19:580:67.02:24.10:42.92:1.00:1.00:1.00:60:52.0:0:0:60:76:21:NM_006614.3(CHL1) c.3253+20T>A,NM_006614.3(CHL1) c.3253+20T>A:0.97,0.97:0.972167,0.972167 3 440832 . G . . NT END=443308;NT GT ./. 3 440946 rs2387184 G A 38 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.02796,A/0.972;Gene=CHL1/NM_001253387.1/0;CC=c.3337+115G>A;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.3385+115G>A;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.3226+115G>A;VC=Intron;DM=CHL1/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:1:0:0:10:334:38.17:1.94:36.23:1.00:1.00:1.00:60:52.8:0:0:109:41:21:NM_006614.3(CHL1) c.3385+115G>A,NM_006614.3(CHL1) c.3385+115G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 440977 rs2387185 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.006789,A/0.9932;NP=2263;Gene=CHL1/NM_001253387.1/0;CC=c.3337+146G>A;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.3385+146G>A;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.3226+146G>A;VC=Intron;DM=CHL1/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:195:22.36:0.00:22.36:1.00:0.00:1.00:60:67.7:0:0:108:40:19:NM_006614.3(CHL1) c.3385+146G>A,NM_006614.3(CHL1) c.3385+146G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 3 443382 . G . . NT END=447177;NT GT ./. 3 447069 rs11705894 C T 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1136,T/0.8864;Gene=CHL1/NM_001253387.1/0;CC=c.3411-109C>T;VC=Intron;Gene=CHL1/NM_006614.3/1;CC=c.3459-109C>T;VC=Intron;Gene=CHL1/NM_001253388.1/0;CC=c.3300-109C>T;VC=Intron;DM=CHL1/Bravo_FIGEY GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:21:0:0:21:648:74.74:74.74:0.00:1.00:1.00:0.00:60:33.3:0:0:21:130:16:NM_006614.3(CHL1) c.3459-109C>T,NM_006614.3(CHL1) c.3459-109C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 3 447395 . A . . NT END=1189692;NT GT ./. 3 587372 rs370657455 ATGTG A 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=ATGTG/0.5755,A/0.4245;NP=42;PC=0.007;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:ATGTG,A:5:4:0:3:2,3:66,98:0.00,9.77:0.00,2.86:0.00,6.91:0.00,0.78:0.00,0.97:0.00,0.97:60,60:14.5,19.0:0,0:0,0:55,60:95,89:46,11:-,chr3 g.587373_587376delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 681815 . AGT A 10 rn VT=DEL;SST=Single;DP=4;NP=5;PC=0.001;Gene=LINC01266/NR_110118.1/0;VC=NonCoding;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AGT,A:4:3:0:3:1,3:35,97:0.00,10.15:0.00,6.80:0.00,3.35:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,12.3:0,0:0,0:51,66:25,81:0,4:-,chr3 g.681816_681817delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 998311 rs58714033 CCA C 13 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CCA/0.3189,C/0.6811;NP=58;PC=0.005;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:CCA,C:7:7:0:6:3,4:86,202:0.00,13.24:0.00,8.61:0.00,4.63:0.00,0.85:0.00,0.97:0.00,0.94:60,60:60.0,0.0:0,2:0,0:109,40:30,92:11,20:-,chr3 g.998312_998313delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 998513 rs11131168 G A 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5072,A/0.4928 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:120:13.90:2.04:11.87:1.00:1.00:1.00:60:52.8:0:0:73:77:27:chr3 g.998512G>A (intergenic),chr3 g.998512G>A (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 3 1032546 rs67893316 TTGGA T 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TTGGA/0.5152,T/0.4848;NP=11;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:2:A,TTGGA,T:5:2:0:3:1,1,3:9,10,83:0.60,0.00,8.69:0.00,0.00,4.48:0.60,0.00,4.21:0.00,0.00,0.78:0.00,0.00,0.87:0.00,0.00,0.97:10,51,60:159.0,104.0,39.0:0,0,0:0,0,0:98,58,24:52,65,93:0,0,10:-,chr3 g.1032547_1032550delTGGA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 1032580 rs7631595 A G 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.615,G/0.385;NP=131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:1:4:133:15.21:3.98:11.23:1.00:1.00:1.00:60:69.8:0:0:83:50:34:chr3 g.1032579A>G (intergenic),chr3 g.1032579A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 1049266 rs61014778 GCACACA G 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:GCACACA,G:3:3:0:3:1,2:30,96:0.00,6.45:0.00,4.86:0.00,1.59:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,7.5:0,1:0,0:101,55:45,96:0,11:-,chr3 g.1049267_1049272delCACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 1189455 rs3772375 G A 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5284,A/0.4716;Gene=CNTN6/NM_001289080.1/1;CC=c.-82-156G>A;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.-162+54651G>A;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.-82-156G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:302:34.92:34.92:0.00:1.00:1.00:0.00:60:47.6:0:0:46:104:20:NM_014461.2(CNTN6) c.-82-156G>A,NM_014461.2(CNTN6) c.-82-156G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 1189748 . G . . NT END=1262370;NT GT ./. 3 1262474 rs2013828 T C 85 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.53,C/0.47;PC=0.002;Gene=CNTN6/NM_001289080.1/1;CC=c.159T>C;ProtCh=p.N53=;VC=Silent;Gene=CNTN6/NM_001289081.1/0;CC=c.-58T>C;VC=5UTR;Gene=CNTN6/NM_014461.3/0;CC=c.159T>C;ProtCh=p.N53=;VC=Silent;DM=CNTN6/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:54:25:0:0:29,25:878,814:85.24,0.00:31.00,0.00:54.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,2.8:0,0:0,0:71,96:79,47:35,35:NM_014461.2(CNTN6) c.159T>C (p.(=)),-:0.43,-:0.381516,- 3 1262498 . G . . NT END=1269501;NT GT ./. 3 1269678 . G . . NT END=1320096;NT GT ./. 3 1320193 . G . . NT END=1337284;NT GT ./. 3 1337162 rs2063243 A G 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4902,G/0.5098;Gene=CNTN6/NM_001289080.1/1;CC=c.455-123A>G;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.239-123A>G;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.455-123A>G;VC=Intron;DM=CNTN6/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:263:30.12:30.12:0.00:1.00:1.00:0.00:60:61.1:0:0:26:124:19:NM_014461.2(CNTN6) c.455-123A>G,NM_014461.2(CNTN6) c.455-123A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 3 1337203 rs565499 A G 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1436,G/0.8564;Gene=CNTN6/NM_001289080.1/1;CC=c.455-82A>G;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.239-82A>G;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.455-82A>G;VC=Intron;DM=CNTN6/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:14:0:0:16:476:55.16:43.62:11.54:1.00:1.00:1.00:60:49.3:0:0:38:111:14:NM_014461.2(CNTN6) c.455-82A>G,NM_014461.2(CNTN6) c.455-82A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 1337489 . G . . NT END=1339572;NT GT ./. 3 1337764 rs555444 C T 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1593,T/0.8407;Gene=CNTN6/NM_001289080.1/1;CC=c.658+276C>T;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.442+276C>T;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.658+276C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:172:19.58:0.00:19.58:1.00:0.00:1.00:60:54.0:0:0:118:32:25:NM_014461.2(CNTN6) c.658+276C>T,NM_014461.2(CNTN6) c.658+276C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 3 1339676 . G . . NT END=1363333;NT GT ./. 3 1363519 . G . . NT END=1367498;NT GT ./. 3 1367636 . G . . NT END=1369140;NT GT ./. 3 1369271 . G . . NT END=1371468;NT GT ./. 3 1371620 . G . . NT END=1394007;NT GT ./. 3 1394136 . G . . NT END=1413982;NT GT ./. 3 1414159 . G . . NT END=1414521;NT GT ./. 3 1414640 . G . . NT END=1415287;NT GT ./. 3 1415447 . G . . NT END=1415607;NT GT ./. 3 1415758 . G . . NT END=1418688;NT GT ./. 3 1418760 . G . . NT END=1424625;NT GT ./. 3 1418979 rs155855 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2053,T/0.7947;PC=0.001;Gene=CNTN6/NM_001289080.1/1;CC=c.2166+220C>T;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.1950+220C>T;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.2166+220C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,T:4:0:0:0:1,3:32,94:0.00,9.85:0.00,0.00:0.00,9.85:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,64.3:0,0:0,0:101,103:50,47:0,20:-,NM_014461.2(CNTN6) c.2166+220C>T:-,0.77:-,NOT_FOUND 3 1424718 rs2291101 G A 123 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.5166,A/0.4834;Gene=CNTN6/NM_001289080.1/1;CC=c.2259G>A;ProtCh=p.V753=;VC=Silent;Gene=CNTN6/NM_001289081.1/0;CC=c.2043G>A;ProtCh=p.V681=;VC=Silent;Gene=CNTN6/NM_014461.3/0;CC=c.2259G>A;ProtCh=p.V753=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:55:0:0:40,37:1267,1274:122.56,0.00:61.16,0.00:61.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,6.5:0,0:0,0:85,89:65,62:40,37:NM_014461.2(CNTN6) c.2259G>A (p.(=)),-:0.49,-:0.407274,- 3 1424850 rs2291100 T G 74 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.7354,A/.,G/0.2646;Gene=CNTN6/NM_001289080.1/1;CC=c.2391T>G;ProtCh=p.S797=;VC=Silent;Gene=CNTN6/NM_001289081.1/0;CC=c.2175T>G;ProtCh=p.S725=;VC=Silent;Gene=CNTN6/NM_014461.3/0;CC=c.2391T>G;ProtCh=p.S797=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:53:16:0:0:25,28:785,913:74.41,0.00:19.62,0.00:54.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,12.6:0,0:0,0:95,111:55,39:26,29:NM_014461.2(CNTN6) c.2391T>G (p.(=)),-:0.29,-:0.278333,- 3 1424861 . G . . NT END=1424976;NT GT ./. 3 1425093 . G . . NT END=1427294;NT GT ./. 3 1427079 rs12487202 C A 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4365,A/0.5635;Gene=CNTN6/NM_001289080.1/1;CC=c.2518-216C>A;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.2302-216C>A;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.2518-216C>A;VC=Intron;DM=CNTN6/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:197:22.56:22.56:0.00:1.00:1.00:0.00:60:49.0:0:0:52:97:25:NM_014461.2(CNTN6) c.2518-216C>A,NM_014461.2(CNTN6) c.2518-216C>A:0.56,0.56:NOT_FOUND,NOT_FOUND 3 1427204 rs3902441 T A 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.4996,A/0.5004;Gene=CNTN6/NM_001289080.1/1;CC=c.2518-91T>A;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.2302-91T>A;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.2518-91T>A;VC=Intron;DM=CNTN6/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:27:27:0:0:15,12:459,390:45.00,0.00:43.41,0.00:1.58,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:35.9,11.8:0,0:0,0:16,36:134,114:12,21:NM_014461.2(CNTN6) c.2518-91T>A,-:0.5,-:NOT_FOUND,- 3 1427482 . G . . NT END=1443116;NT GT ./. 3 1442968 rs370351899 GAATT G 18 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=GAATT/0.8808,G/0.1192;DB;DBA=NA;PAF=GAATT/0.8808,G/0.1192;NP=182;PC=0.632;Gene=CNTN6/NM_001289080.1/1;CC=c.2705-145_2705-142delTAAT;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.2489-145_2489-142delTAAT;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.2705-145_2705-142delTAAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAATT,G:14:14:0:6:8,6:211,191:0.00,17.83:0.00,17.83:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:20.5,13.0:0,0:0,0:69,71:82,79:19,15:-,NM_014461.2(CNTN6) c.2705-148_2705-145delAATT:-,0.14:-,NOT_FOUND 3 1443230 . G . . NT END=1444001;NT GT ./. 3 1443788 rs6781011 A T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9036,T/0.09645;PC=0.001;Gene=CNTN6/NM_001289080.1/1;CC=c.2818-214A>T;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.2602-214A>T;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.2818-214A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,T:9:9:0:0:3,6:86,180:0.00,18.37:0.00,18.37:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:24.3,56.2:0,0:0,0:69,65:82,81:2,21:-,NM_014461.2(CNTN6) c.2818-214A>T:-,0.11:-,NOT_FOUND 3 1443811 rs59599960 CA C 15 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CA/0.7915,C/0.2085;DB;DBA=NA;PAF=CA/0.7915,C/0.2085;NP=71;PC=0.002;Gene=CNTN6/NM_001289080.1/1;CC=c.2818-180delA;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.2602-180delA;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.2818-180delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:CA,C:9:9:0:5:4,5:105,153:0.00,15.01:0.00,15.01:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:25.2,58.6:0,0:0,0:60,81:91,70:33,19:-,NM_014461.2(CNTN6) c.2818-190delA:-,NOT_FOUND:-,NOT_FOUND 3 1444171 . G . . NT END=1445001;NT GT ./. 3 1444243 rs13326014 A G 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.8061,G/0.1939;Gene=CNTN6/NM_001289080.1/1;CC=c.2986+73A>G;VC=Intron;Gene=CNTN6/NM_001289081.1/0;CC=c.2770+73A>G;VC=Intron;Gene=CNTN6/NM_014461.3/0;CC=c.2986+73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:4:0:0:15,15:422,496:0.00,47.76:0.00,3.48:0.00,44.28:0.00,1.00:0.00,0.51:0.00,1.00:60,60:4.5,40.5:0,0:0,0:95,130:56,21:26,13:-,NM_014461.2(CNTN6) c.2986+73A>G:-,0.21:-,NOT_FOUND 3 1445103 . T . . NT END=2613187;NT GT ./. 3 1448326 rs56856796 G GGT 10 idl,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=18;NP=35;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,GGT:6:5:6:0:2,4:65,165:0.00,9.93:0.00,4.86:0.00,5.06:0.00,0.87:0.00,0.96:0.00,0.99:60,60:0.0,2.2:0,2:0,0:107,79:34,60:3,29:-,chr3 g.1448326_1448327insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 1488047 rs11128692 C G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8456,G/0.1544 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,G:5:0:0:0:1,4:35,137:0.00,14.52:0.00,0.00:0.00,14.52:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,62.5:0,1:0,0:106,101:45,48:0,7:-,chr3 g.1488046C>G (intergenic):-,0.16:-,NOT_FOUND 3 1488051 rs11128693 A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9058,G/0.09425 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:0:0:1:1,3:33,85:0.00,8.94:0.00,0.00:0.00,8.94:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,72.0:0,0:0,0:110,99:41,49:0,13:-,chr3 g.1488050A>G (intergenic):-,0.09:-,NOT_FOUND 3 1514542 rs34565193 T C 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4617,C/0.5383 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:66,71:6.35,0.00:4.76,0.00:1.59,0.00:0.51,0.00:0.51,0.00:0.89,0.00:60,60:74.5,0.0:0,0:0,0:71,104:72,30:1,27:chr3 g.1514541T>C (intergenic),-:0.52,-:NOT_FOUND,- 3 1637700 rs9866241 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7414,C/0.2586;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:2:0:0:7:221:25.44:5.82:19.62:1.00:1.00:1.00:60:85.1:0:0:106:45:38:chr3 g.1637699T>C (intergenic),chr3 g.1637699T>C (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 3 1637718 rs9862281 A G 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7422,G/0.2578;PC=0.976 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:213:24.16:3.98:20.19:1.00:1.00:1.00:60:117.2:0:0:79:69:37:chr3 g.1637717A>G (intergenic),chr3 g.1637717A>G (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 3 1637772 rs9842892 C G 13 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.737,G/0.263;PC=0.975 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:1:0:0:4:113:13.15:1.84:11.31:1.00:1.00:1.00:60:144.8:0:0:95:53:8:chr3 g.1637771C>G (intergenic),chr3 g.1637771C>G (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 3 1637790 rs9862322 A G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7376,G/0.2624;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:2:0:0:5:163:18.68:3.68:15.01:1.00:1.00:1.00:60:129.0:0:0:111:35:15:chr3 g.1637789A>G (intergenic),chr3 g.1637789A>G (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 3 1637807 rs9866396 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7376,C/0.2624;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:143:16.66:4.03:12.63:1.00:1.00:1.00:60:129.0:0:0:128:18:15:chr3 g.1637806T>C (intergenic),chr3 g.1637806T>C (intergenic):0.24,0.24:NOT_FOUND,NOT_FOUND 3 1637815 rs577531445 C CTTT 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7398,CTTT/0.2602;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.7398,CTTT/0.2602;DB;DBA=NA;PAF=C/0.7398,CTTT/0.2602;DB;DBA=NA;PAF=C/0.7398,CTTT/0.2602,CTTTT/.;NP=39;NP=9;PC=1.000;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CTTT:4:2:3:0:1,3:34,90:0.00,9.45:0.00,3.65:0.00,5.80:0.00,0.85:0.00,0.95:0.00,0.85:60,60:168.0,77.3:0,0:0,0:141,47:10,104:0,0:-,chr3 g.1637815_1637816insTTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 1947348 rs9310583 A G 7 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7512,C/.,G/0.2488;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:4:4:0:0:2,2:70,68:0.00,6.55:0.00,4.91:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,70.0:0,0:0,0:57,6:77,144:23,2:-,chr3 g.1947347A>G (intergenic):-,0.24:-,NOT_FOUND 3 1947477 rs7431184 T C 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.743,C/0.257;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:14:0:0:7,10:250,332:23.34,0.00:15.08,0.00:8.26,0.00:0.98,0.00:1.00,0.00:0.99,0.00:60,60:48.4,5.8:0,0:0,0:62,73:89,69:41,30:chr3 g.1947476T>C (intergenic),-:0.24,-:NOT_FOUND,- 3 2563749 rs7624709 T C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.223,C/0.777,G/.;PC=0.029;Gene=CNTN4/NM_175607.2/1;CC=c.-88-49351T>C;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.-88-49351T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:138:15.71:11.83:3.88:1.00:1.00:1.00:60:58.5:0:0:29:116:8:NM_175607.2(CNTN4) c.-88-49351T>C,NM_175607.2(CNTN4) c.-88-49351T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 3 2563833 rs71621496 T G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4163,G/0.5837;DB;DBA=NA;PAF=NA;NP=46;PC=0.052;Gene=CNTN4/NM_175607.2/1;CC=c.-88-49267T>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.-88-49267T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:2:4:130:14.91:10.93:3.98:1.00:1.00:1.00:60:61.0:0:0:112:32:11:NM_175607.2(CNTN4) c.-88-49267T>G,NM_175607.2(CNTN4) c.-88-49267T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 2613001 rs2616585 A G 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3532,G/0.6468;Gene=CNTN4/NM_175607.2/1;CC=c.-88-99A>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.-88-99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,G:11:11:0:0:5,6:152,170:0.00,16.57:0.00,16.57:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.4,34.3:0,0:0,0:72,90:78,59:28,25:-,NM_175607.2(CNTN4) c.-88-99A>G:-,0.62:-,NOT_FOUND 3 2613244 . T . . NT END=2777898;NT GT ./. 3 2649158 rs2619557 G A 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4335,A/0.5665;Gene=CNTN4/NM_175607.2/1;CC=c.55+35916G>A;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.55+35916G>A;VC=Intron;DM=CNTN4/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:60:33.0:0:0:30:121:30:NM_175607.2(CNTN4) c.55+35916G>A,NM_175607.2(CNTN4) c.55+35916G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 3 2778027 . T . . NT END=2787205;NT GT ./. 3 2778159 rs6789880 A T 53 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2368,T/0.7632;PC=0.061;Gene=CNTN4/NM_175607.2/1;CC=c.182+134A>T;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.182+134A>T;VC=Intron;DM=CNTN4/I-set;DM=CNTN4/I-set;DM=CNTN4/I-set;DM=CNTN4/I-set;DM=CNTN4/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:1:0:0:14:462:52.88:1.94:50.94:1.00:1.00:1.00:60:71.5:0:0:93:57:42:NM_175607.2(CNTN4) c.182+134A>T,NM_175607.2(CNTN4) c.182+134A>T:0.77,0.77:NOT_FOUND,NOT_FOUND 3 2778166 rs1914015 G A 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2382,A/0.7618;PC=0.036;Gene=CNTN4/NM_175607.2/1;CC=c.182+141G>A;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.182+141G>A;VC=Intron;DM=CNTN4/I-set;DM=CNTN4/I-set;DM=CNTN4/I-set;DM=CNTN4/I-set;DM=CNTN4/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:0:0:0:13:446:50.80:0.00:50.80:1.00:0.00:1.00:60:68.9:0:0:86:64:48:NM_175607.2(CNTN4) c.182+141G>A,NM_175607.2(CNTN4) c.182+141G>A:0.79,0.79:NOT_FOUND,NOT_FOUND 3 2787383 . T . . NT END=2861169;NT GT ./. 3 2787532 rs4685547 A G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1601,G/0.8399;Gene=CNTN4/NM_175607.2/1;CC=c.358+151A>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.358+151A>G;VC=Intron;DM=CNTN4/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:275:31.76:0.00:31.76:1.00:0.00:1.00:60:49.1:0:0:79:71:18:NM_175607.2(CNTN4) c.358+151A>G,NM_175607.2(CNTN4) c.358+151A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 2845775 rs75819159 A ACACACACT 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=CNTN4/NM_175607.2/1;CC=c.359-15388_359-15387insTCACACAC;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.359-15388_359-15387insTCACACAC;VC=Intron;DM=CNTN4/I-set;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,ACACACACT:4:4:3:0:2,2:69,98:0.00,6.31:0.00,6.54:0.00,-0.22:0.00,0.46:0.00,0.87:0.00,0.80:60,60:30.5,5.5:0,1:0,0:68,111:51,39:11,7:-,NM_175607.2(CNTN4) c.359-15395_359-15394insCACACACT:-,NOT_FOUND:-,NOT_FOUND 3 2861267 . T . . NT END=2908103;NT GT ./. 3 2908186 . G . . NT END=2908435;NT GT ./. 3 2908335 rs6442761 A G 96 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2119,G/0.7881;Gene=CNTN4/NM_175607.2/1;CC=c.455-101A>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.455-101A>G;VC=Intron;DM=CNTN4/I-set;DM=CNTN4/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:16:0:0:27:835:96.30:52.82:43.49:1.00:1.00:1.00:60:35.0:0:0:47:104:35:NM_175607.2(CNTN4) c.455-101A>G,NM_175607.2(CNTN4) c.455-101A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 3 2908635 . T . . NT END=2924828;NT GT ./. 3 2908694 rs6789163 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.5537,G/0.4463;Gene=CNTN4/NM_175607.2/1;CC=c.652+61A>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.652+61A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:3:0:0:10,10:292,313:0.00,30.04:0.00,-0.59:0.00,30.62:0.00,1.00:0.00,0.89:0.00,1.00:60,60:6.9,42.6:0,0:0,0:119,68:32,82:20,34:-,NM_175607.2(CNTN4) c.652+61A>G:-,0.47:-,NOT_FOUND 3 2924686 rs4685575 G A 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3886,A/0.6114;PC=0.471;Gene=CNTN4/NM_175607.2/1;CC=c.653-143G>A;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.653-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:7:7:0:0:3,4:83,138:7.65,0.00:7.65,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:27.7,7.5:0,0:0,0:92,42:59,108:39,36:NM_175607.2(CNTN4) c.653-143G>A,-:0.61,-:NOT_FOUND,- 3 2924933 . T . . NT END=2928723;NT GT ./. 3 2928910 . T . . NT END=2942368;NT GT ./. 3 2942507 . T . . NT END=2944559;NT GT ./. 3 2944691 . T . . NT END=2967312;NT GT ./. 3 2967465 . T . . NT END=3030028;NT GT ./. 3 3030158 . T . . NT END=3050678;NT GT ./. 3 3050527 . A G 49 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;PC=0.060;Gene=CNTN4/NM_175607.2/1;CC=c.1487-17259A>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.1487-17259A>G;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.503-17259A>G;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.503-17259A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:26:0:0:13,15:398,503:0.00,49.06:0.00,49.89:0.00,-0.83:0.00,1.00:0.00,1.00:0.00,0.91:60,60:12.8,41.2:0,0:0,0:41,42:110,102:23,14:-,NM_175607.2(CNTN4) c.1487-17259A>G:-,NOT_FOUND:-,NOT_FOUND 3 3050688 . G . . NT END=3067785;NT GT ./. 3 3067963 . T . . NT END=3072538;NT GT ./. 3 3068127 rs7618862 C G 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5072,G/0.4928;Gene=CNTN4/NM_175607.2/1;CC=c.1662+166C>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.1662+166C>G;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.678+166C>G;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.678+166C>G;VC=Intron;DM=CNTN4/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:0:0:0:10,9:333,262:0.00,24.77:0.00,0.00:0.00,24.77:0.00,1.00:0.00,0.00:0.00,1.00:60,60:20.9,76.2:0,0:0,0:95,135:56,16:31,15:-,NM_175607.2(CNTN4) c.1662+166C>G:-,0.51:-,NOT_FOUND 3 3068148 rs13084872 C T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7586,T/0.2414;Gene=CNTN4/NM_175607.2/1;CC=c.1662+187C>T;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.1662+187C>T;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.678+187C>T;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.678+187C>T;VC=Intron;DM=CNTN4/Ig_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:13:0:0:0:9,4:311,127:0.00,11.12:0.00,0.00:0.00,11.12:0.00,0.79:0.00,0.00:0.00,0.79:60,60:20.8,104.0:0,0:0,0:88,93:61,57:30,11:-,NM_175607.2(CNTN4) c.1662+187C>T:-,0.28:-,NOT_FOUND 3 3072661 . T . . NT END=3076315;NT GT ./. 3 3072912 rs11129386 G A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6711,A/0.3289;Gene=CNTN4/NM_175607.2/1;CC=c.1783+253G>A;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.1783+253G>A;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.796+253G>A;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.799+253G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:164:A,G:12:0:0:0:5,7:163,224:15.15,0.00:0.00,0.00:15.15,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:48.8,28.9:0,0:0,0:121,78:30,73:12,10:NM_175607.2(CNTN4) c.1783+253G>A,-:0.36,-:NOT_FOUND,- 3 3076218 rs9845519 G A 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.637,A/0.363;Gene=CNTN4/NM_175607.2/1;CC=c.1784-98G>A;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.1784-98G>A;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.797-98G>A;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.800-98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:36:0:0:18,20:536,644:50.76,0.00:48.28,0.00:2.48,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:63.3,20.1:0,0:0,0:47,39:103,112:29,21:NM_175607.2(CNTN4) c.1784-98G>A,-:0.4,-:NOT_FOUND,- 3 3076284 rs6765545 G C 81 nt VT=SNV;PN=T;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.6212,C/0.3788;Gene=CNTN4/NM_175607.2/1;CC=c.1784-32G>C;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.1784-32G>C;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.797-32G>C;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.800-32G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:59:52:0:0:26,33:857,1071:80.56,0.00:57.80,0.00:22.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.6,9.5:0,0:0,0:62,66:87,85:39,33:NM_175607.2(CNTN4) c.1784-32G>C,-:0.4,-:0.439797,- 3 3076401 rs6790908 C T 102 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.5717,T/0.4283;PC=1.000;Gene=CNTN4/NM_175607.2/1;CC=c.1869C>T;ProtCh=p.N623=;VC=Silent;Gene=CNTN4/NM_001206955.1/0;CC=c.1869C>T;ProtCh=p.N623=;VC=Silent;Gene=CNTN4/NM_001206956.1/0;CC=c.882C>T;ProtCh=p.N294=;VC=Silent;Gene=CNTN4/NM_175613.2/0;CC=c.885C>T;ProtCh=p.N295=;VC=Silent;DM=CNTN4/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:55:0:0:45,36:1485,1094:0.00,102.32:0.00,44.33:0.00,58.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,70.2:0,0:0,0:82,80:63,69:33,37:-,NM_175607.2(CNTN4) c.1869C>T (p.(=)):-,0.45:-,0.528987 3 3076443 rs6803232 A G 80 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.4397,G/0.5603;Gene=CNTN4/NM_175607.2/1;CC=c.1911A>G;ProtCh=p.P637=;VC=Silent;Gene=CNTN4/NM_001206955.1/0;CC=c.1911A>G;ProtCh=p.P637=;VC=Silent;Gene=CNTN4/NM_001206956.1/0;CC=c.924A>G;ProtCh=p.P308=;VC=Silent;Gene=CNTN4/NM_175613.2/0;CC=c.927A>G;ProtCh=p.P309=;VC=Silent;DM=CNTN4/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:73:44:0:0:44,28,1:1431,872,14:0.00,79.61,0.03:0.00,25.91,0.18:0.00,53.70,-0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:2.9,64.4,156.0:0,0,0:0,0,0:93,84,147:58,67,4:27,29,0:-,NM_175607.2(CNTN4) c.1911A>G (p.(=)):-,0.58:-,0.657312 3 3076476 . T . . NT END=3078862;NT GT ./. 3 3079014 . T . . NT END=3080616;NT GT ./. 3 3080452 rs7625369 G A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9044,A/0.09565;Gene=CNTN4/NM_175607.2/1;CC=c.2093-165G>A;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.2093-165G>A;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.1106-165G>A;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.1109-165G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:A,G:13:13:0:0:5,8:168,212:15.46,0.00:15.46,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:68.4,26.6:0,0:0,0:50,35:101,116:28,22:NM_175607.2(CNTN4) c.2093-165G>A,-:0.11,-:NOT_FOUND,- 3 3080527 rs163543 C T 114 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.01957,T/0.9804;Gene=CNTN4/NM_175607.2/1;CC=c.2093-90C>T;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.2093-90C>T;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.1106-90C>T;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.1109-90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:T:32:30:0:0:32:992:114.42:97.52:16.91:1.00:1.00:1.00:60:38.0:0:0:30:121:23:NM_175607.2(CNTN4) c.2093-90C>T,NM_175607.2(CNTN4) c.2093-90C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 3 3080689 . T . . NT END=3081720;NT GT ./. 3 3081750 rs6802588 A T 92 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.6352,T/0.3648;PC=0.980;Gene=CNTN4/NM_175607.2/1;CC=c.2193A>T;ProtCh=p.R731=;VC=Silent;Gene=CNTN4/NM_001206955.1/0;CC=c.2193A>T;ProtCh=p.R731=;VC=Silent;Gene=CNTN4/NM_001206956.1/0;CC=c.1206A>T;ProtCh=p.R402=;VC=Silent;Gene=CNTN4/NM_175613.2/0;CC=c.1209A>T;ProtCh=p.R403=;VC=Silent;Gene=CNTN4-AS1/NR_046554.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:77:65:0:0:46,31:1496,1002:0.00,92.46:0.00,57.80:0.00,34.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.5,49.4:0,0:0,0:52,68:92,80:27,37:-,NM_175607.2(CNTN4) c.2193A>T (p.(=)):-,0.38:-,0.308473 3 3081825 rs339285 T C 322 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.1034,C/0.8966;Gene=CNTN4/NM_175607.2/1;CC=c.2268T>C;ProtCh=p.D756=;VC=Silent;Gene=CNTN4/NM_001206955.1/0;CC=c.2268T>C;ProtCh=p.D756=;VC=Silent;Gene=CNTN4/NM_001206956.1/0;CC=c.1281T>C;ProtCh=p.D427=;VC=Silent;Gene=CNTN4/NM_175613.2/0;CC=c.1284T>C;ProtCh=p.D428=;VC=Silent;Gene=CNTN4-AS1/NR_046554.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:88:62:0:0:88:2804:322.25:167.36:154.90:1.00:1.00:1.00:60:42.6:0:0:79:71:37:NM_175607.2(CNTN4) c.2268T>C (p.(=)),NM_175607.2(CNTN4) c.2268T>C (p.(=)):0.92,0.92:0.928418,0.928418 3 3081957 . T . . NT END=3083993;NT GT ./. 3 3082025 rs4685596 G T 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.7774,T/0.2226;Gene=CNTN4/NM_175607.2/1;CC=c.2398+70G>T;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.2398+70G>T;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.1411+70G>T;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.1414+70G>T;VC=Intron;Gene=CNTN4-AS1/NR_046554.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:28:1:0:0:13,15:425,436:0.00,42.31:0.00,-0.17:0.00,42.48:0.00,1.00:0.00,0.69:0.00,1.00:60,60:0.6,42.5:0,0:0,0:98,102:53,49:20,37:-,NM_175607.2(CNTN4) c.2398+70G>T:-,0.23:-,NOT_FOUND 3 3084108 . T . . NT END=3084660;NT GT ./. 3 3084279 rs7644007 C T 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7843,T/0.2157;Gene=CNTN4/NM_175607.2/1;CC=c.2511+173C>T;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.2511+173C>T;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.1524+173C>T;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.1527+173C>T;VC=Intron;Gene=CNTN4-AS1/NR_046554.1/0;VC=NonCoding;DM=CNTN4/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,T:15:0:0:0:5,10:134,311:0.00,31.74:0.00,0.00:0.00,31.74:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.8,41.8:0,0:0,0:130,103:20,46:12,27:-,NM_175607.2(CNTN4) c.2511+173C>T:-,0.22:-,NOT_FOUND 3 3084440 rs467919 T G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.5867,G/0.4133;Gene=CNTN4/NM_175607.2/1;CC=c.2512-221T>G;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.2512-221T>G;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.1525-221T>G;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.1528-221T>G;VC=Intron;Gene=CNTN4-AS1/NR_046554.1/0;VC=NonCoding;DM=CNTN4/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:G,T:11:10:0:0:5,6:163,195:15.39,0.00:11.86,0.00:3.53,0.00:0.93,0.00:0.99,0.00:0.64,0.00:60,60:43.6,1.5:0,0:0,0:21,61:130,89:12,39:NM_175607.2(CNTN4) c.2512-221T>G,-:0.42,-:NOT_FOUND,- 3 3084653 rs6800354 C T 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.7786,T/0.2214;PC=0.228;Gene=CNTN4/NM_175607.2/1;CC=c.2512-8C>T;VC=Intron;Gene=CNTN4/NM_001206955.1/0;CC=c.2512-8C>T;VC=Intron;Gene=CNTN4/NM_001206956.1/0;CC=c.1525-8C>T;VC=Intron;Gene=CNTN4/NM_175613.2/0;CC=c.1528-8C>T;VC=Intron;Gene=CNTN4-AS1/NR_046554.1/0;VC=NonCoding;DM=CNTN4/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:61:0:0:36,36:1143,1102:0.00,105.67:0.00,86.91:0.00,18.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,43.8:0,0:0,0:54,53:96,95:19,29:-,NM_175607.2(CNTN4) c.2512-8C>T:-,0.22:-,0.276949 3 3084849 . T . . NT END=3085275;NT GT ./. 3 3085390 . T . . NT END=3095490;NT GT ./. 3 3095661 . T . . NT END=3097803;NT GT ./. 3 3097906 . A . . NT END=3111908;NT GT ./. 3 3098041 rs163352 G C 29 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2985,C/0.7015;PC=1.000;Gene=CNTN4/NM_175607.2/1;CC=c.*137G>C;VC=3UTR;Gene=CNTN4/NM_001206955.1/0;CC=c.*137G>C;VC=3UTR;Gene=CNTN4/NM_001206956.1/0;CC=c.*137G>C;VC=3UTR;Gene=CNTN4/NM_175613.2/0;CC=c.*137G>C;VC=3UTR;Gene=CNTN4-AS1/NR_046554.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:251:28.91:0.00:28.91:1.00:0.00:1.00:60:32.9:0:0:101:50:34:NM_175607.2(CNTN4) c.*137G>C,NM_175607.2(CNTN4) c.*137G>C:0.74,0.74:NOT_FOUND,NOT_FOUND 3 3111996 . C . . NT END=3116465;NT GT ./. 3 3116551 . C . . NT END=3118214;NT GT ./. 3 3118005 rs397844160 TTG T 13 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=TTG/0.5455,T/0.4545;DB;DBA=NA;PAF=TTG/0.5455,T/0.4545;DB;DBA=NA;PAF=TTG/0.5455,T/0.4545;NP=390;PC=0.001;Gene=IL5RA/NM_000564.4/1;CC=c.1091+208_1091+209delCA;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.1091+208_1091+209delCA;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.1091+208_1091+209delCA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:TTG,T:8:8:0:4:4,4:95,131:0.00,12.62:0.00,12.62:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:13.0,3.2:0,0:0,0:49,62:100,87:28,5:-,NM_000564.4(IL5RA) c.1091+208_1091+209delCA:-,0.44:-,NOT_FOUND 3 3118312 . C . . NT END=3131856;NT GT ./. 3 3131941 . c . . NT END=3133619;NT GT ./. 3 3133360 rs4054764 A G 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8588,G/0.1412;Gene=IL5RA/NM_000564.4/1;CC=c.994+548T>C;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.994+548T>C;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.994+548T>C;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.994+548T>C;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.994+548T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:4:0:0:1,3:33,98:0.00,10.25:0.00,8.38:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,32.7:0,0:0,0:28,20:122,131:0,13:-,NM_000564.4(IL5RA) c.994+548T>C:-,0.11:-,NOT_FOUND 3 3134047 . C . . NT END=3136982;NT GT ./. 3 3136804 rs7647260 A G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5938,G/0.4062;PC=0.004;Gene=IL5RA/NM_000564.4/1;CC=c.855+179T>C;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.855+179T>C;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.855+179T>C;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.855+179T>C;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.855+179T>C;VC=Intron;Gene=IL5RA/NM_175724.2/0;CC=c.855+179T>C;VC=Intron;Gene=IL5RA/NM_175727.2/0;CC=c.855+179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:10:10:0:0:4,6:129,171:0.00,17.00:0.00,17.00:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,67.0:0,0:0,0:20,44:130,106:11,26:-,NM_000564.4(IL5RA) c.855+179T>C:-,0.36:-,NOT_FOUND 3 3137129 . C . . NT END=3139553;NT GT ./. 3 3137155 rs397796011 A AT 76 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.2708,AT/0.6791,ATT/0.05012,ATTT/.;DB;DBA=NA;PAF=A/0.2708,AT/0.6791;NP=12;NP=2144;Gene=IL5RA/NM_000564.4/1;CC=c.710-28dupA;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.710-28dupA;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.710-28dupA;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.710-28dupA;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.710-28dupA;VC=Intron;Gene=IL5RA/NM_175724.2/0;CC=c.710-28dupA;VC=Intron;Gene=IL5RA/NM_175727.2/0;CC=c.710-28dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:31:14:23:0:9,22:295,766:0.00,75.57:0.00,23.09:0.00,52.48:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.1,5.1:0,1:0,0:121,84:17,47:17,30:-,NM_000564.4(IL5RA) c.710-28_710-27insA:-,NOT_FOUND:-,NOT_FOUND 3 3139383 rs334802 C A 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.1865,A/0.8135;Gene=IL5RA/NM_000564.4/1;CC=c.709+171G>T;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.709+171G>T;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.709+171G>T;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.709+171G>T;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.709+171G>T;VC=Intron;Gene=IL5RA/NM_175724.2/0;CC=c.709+171G>T;VC=Intron;Gene=IL5RA/NM_175727.2/0;CC=c.709+171G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:22:0:0:22:664:76.82:76.82:0.00:1.00:1.00:0.00:60:53.8:0:0:53:98:23:NM_000564.4(IL5RA) c.709+171G>T,NM_000564.4(IL5RA) c.709+171G>T:0.77,0.77:NOT_FOUND,NOT_FOUND 3 3139742 . C . . NT END=3139820;NT GT ./. 3 3139957 rs2290610 T C 128 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.5719,C/0.4281;Gene=IL5RA/NM_000564.4/1;CC=c.385A>G;ProtCh=p.I129V;VC=Missense;Gene=IL5RA/NM_001243099.1/0;CC=c.385A>G;ProtCh=p.I129V;VC=Missense;Gene=IL5RA/NM_175726.3/0;CC=c.385A>G;ProtCh=p.I129V;VC=Missense;Gene=IL5RA/NM_175725.2/0;CC=c.385A>G;ProtCh=p.I129V;VC=Missense;Gene=IL5RA/NM_175728.2/0;CC=c.385A>G;ProtCh=p.I129V;VC=Missense;Gene=IL5RA/NM_175724.2/0;CC=c.385A>G;ProtCh=p.I129V;VC=Missense;Gene=IL5RA/NM_175727.2/0;CC=c.385A>G;ProtCh=p.I129V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:76:40:0:0:41,35:1315,1124:128.18,0.00:53.39,0.00:74.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,12.6:0,0:0,0:75,70:70,74:37,36:NM_000564.4(IL5RA) c.385A>G (p.Ile129Val),-:0.38,-:0.375058,- 3 3139975 . C . . NT END=3143375;NT GT ./. 3 3143164 rs6808454 A C 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=IL5RA/NM_000564.4/1;CC=c.367+212T>G;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.367+212T>G;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.367+212T>G;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.367+212T>G;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.367+212T>G;VC=Intron;Gene=IL5RA/NM_175724.2/0;CC=c.367+212T>G;VC=Intron;Gene=IL5RA/NM_175727.2/0;CC=c.367+212T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:197:22.56:22.56:0.00:1.00:1.00:0.00:60:64.5:0:0:36:115:13:NM_000564.4(IL5RA) c.367+212T>G,NM_000564.4(IL5RA) c.367+212T>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 3143267 rs6771148 G C 93 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1741,C/0.8259;Gene=IL5RA/NM_000564.4/1;CC=c.367+109C>G;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.367+109C>G;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.367+109C>G;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.367+109C>G;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.367+109C>G;VC=Intron;Gene=IL5RA/NM_175724.2/0;CC=c.367+109C>G;VC=Intron;Gene=IL5RA/NM_175727.2/0;CC=c.367+109C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A,C:25:25:0:0:1,24:12,819:0.44,92.92:0.44,85.00:0.00,7.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:73.0,50.8:0,0:0,0:71,52:79,98:0,28:NM_000564.4(IL5RA) c.367+109C>G,NM_000564.4(IL5RA) c.367+109C>G:0.79,0.79:NOT_FOUND,NOT_FOUND 3 3143515 . C . . NT END=3144358;NT GT ./. 3 3144246 rs3856847 T A 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=IL5RA/NM_000564.4/1;CC=c.228+113A>T;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.228+113A>T;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.228+113A>T;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.228+113A>T;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.228+113A>T;VC=Intron;Gene=IL5RA/NM_175724.2/0;CC=c.228+113A>T;VC=Intron;Gene=IL5RA/NM_175727.2/0;CC=c.228+113A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:331:37.87:32.05:5.82:1.00:1.00:1.00:60:35.3:0:0:67:83:25:NM_000564.4(IL5RA) c.228+113A>T,NM_000564.4(IL5RA) c.228+113A>T:0.8,0.8:NOT_FOUND,NOT_FOUND 3 3144505 . C . . NT END=3146586;NT GT ./. 3 3144736 rs6766682 T C 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9297,C/0.07029;PC=0.004;Gene=IL5RA/NM_000564.4/1;CC=c.83-232A>G;VC=Intron;Gene=IL5RA/NM_001243099.1/0;CC=c.83-232A>G;VC=Intron;Gene=IL5RA/NM_175726.3/0;CC=c.83-232A>G;VC=Intron;Gene=IL5RA/NM_175725.2/0;CC=c.83-232A>G;VC=Intron;Gene=IL5RA/NM_175728.2/0;CC=c.83-232A>G;VC=Intron;Gene=IL5RA/NM_175724.2/0;CC=c.83-232A>G;VC=Intron;Gene=IL5RA/NM_175727.2/0;CC=c.83-232A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:167:C,T:12:1:0:0:7,5:241,166:23.90,0.00:1.87,0.00:22.03,0.00:0.99,0.00:0.72,0.00:0.99,0.00:60,60:35.7,3.8:0,0:0,0:78,88:73,62:31,29:NM_000564.4(IL5RA) c.83-232A>G,-:0.06,-:NOT_FOUND,- 3 3146669 . A . . NT END=3170724;NT GT ./. 3 3170409 rs334774 G C 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6178,C/0.3822,T/.;PC=0.056;Gene=TRNT1/NM_001302946.1/1;CC=c.-27-289G>C;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.-27-289G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:111:12.99:12.99:0.00:1.00:1.00:0.00:60:56.0:0:0:88:56:24:NM_182916.2(TRNT1) c.-27-289G>C,NM_182916.2(TRNT1) c.-27-289G>C:0.4,0.4:NOT_FOUND,NOT_FOUND 3 3170460 rs4055814 A AGTT 12 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.09565,AGTT/0.9044;DB;DBA=NA;PAF=A/0.09565,AGTT/0.9044;NP=125;PC=0.094;Gene=TRNT1/NM_001302946.1/1;CC=c.-27-235_-27-234insGTT;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.-27-235_-27-234insGTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,T,AGTT:8:8:4:0:2,2,4:70,64,117:0.00,5.90,11.80:0.00,5.90,11.80:0.00,0.00,0.00:0.00,0.00,0.87:0.00,0.00,0.87:0.00,0.00,0.00:60,60,60:63.0,32.0,40.5:0,0,0:0,0,0:139,0,27:5,151,118:2,0,18:-,NM_182916.2(TRNT1) c.-27-238_-27-237insGTT:-,NOT_FOUND:-,NOT_FOUND 3 3170792 rs334773 C T 273 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.09545,T/0.9046;PC=0.980;Gene=TRNT1/NM_001302946.1/1;CC=c.68C>T;ProtCh=p.P23L;VC=Missense;Gene=TRNT1/NM_182916.2/0;CC=c.68C>T;ProtCh=p.P23L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:73:50:0:0:1,72:5,2396:0.03,273.43:0.03,138.81:0.00,134.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.0,46.6:0,0:0,0:51,63:100,83:0,40:NM_182916.2(TRNT1) c.=,NM_182916.2(TRNT1) c.=:0.92,0.92:0.901815,0.901815 3 3170873 . G . . NT END=3178943;NT GT ./. 3 3170910 rs334772 A G 193 nt VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.1008,G/0.8992;Gene=TRNT1/NM_001302946.1/1;CC=c.148+38A>G;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.148+38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:G:51:24:0:0:51:1687:192.96:56.25:136.71:1.00:1.00:1.00:60:54.2:0:0:96:54:33:NM_182916.2(TRNT1) c.148+38A>G,NM_182916.2(TRNT1) c.148+38A>G:0.92,0.92:0.898739,0.898739 3 3171023 rs334771 A G 52 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1008,G/0.8992;Gene=TRNT1/NM_001302946.1/1;CC=c.148+151A>G;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.148+151A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:0:0:0:14:453:51.98:0.00:51.98:1.00:0.00:1.00:60:63.3:0:0:110:41:29:NM_182916.2(TRNT1) c.148+151A>G,NM_182916.2(TRNT1) c.148+151A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 3171125 rs334770 G A 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6182,A/0.3818;PC=0.005;Gene=TRNT1/NM_001302946.1/1;CC=c.148+253G>A;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.148+253G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:158:18.18:0.00:18.18:1.00:0.00:1.00:60:51.0:0:0:113:37:24:NM_182916.2(TRNT1) c.148+253G>A,NM_182916.2(TRNT1) c.148+253G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 3179138 . G . . NT END=3182193;NT GT ./. 3 3179262 rs334767 A T 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.09305,T/0.9069;Gene=TRNT1/NM_001302946.1/1;CC=c.342+125A>T;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.342+125A>T;VC=Intron;DM=TRNT1/PolyA_pol GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:310:36.62:0.00:36.62:1.00:0.00:1.00:60:40.6:0:0:85:65:39:NM_182916.2(TRNT1) c.342+125A>T,NM_182916.2(TRNT1) c.342+125A>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 3181979 rs3886971 T TA 38 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=401;Gene=TRNT1/NM_001302946.1/1;CC=c.343-215_343-214insA;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.343-215_343-214insA;VC=Intron;DM=TRNT1/PolyA_pol;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:TA:11:11:11:0:11:323:37.52:37.52:0.00:1.00:1.00:0.00:60:23.4:0:0:47:104:34:NM_182916.2(TRNT1) c.343-215_343-214insA,NM_182916.2(TRNT1) c.343-215_343-214insA:0.8,0.8:NOT_FOUND,NOT_FOUND 3 3182333 . G . . NT END=3186267;NT GT ./. 3 3182485 rs184579 A G 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.09245,G/0.9075;Gene=TRNT1/NM_001302946.1/1;CC=c.481+153A>G;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.481+153A>G;VC=Intron;DM=TRNT1/PolyA_pol GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:0:0:0:15:428:49.88:0.00:49.88:1.00:0.00:1.00:60:67.4:0:0:68:83:32:NM_182916.2(TRNT1) c.481+153A>G,NM_182916.2(TRNT1) c.481+153A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 3182500 rs334760 G C 35 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1306;Gene=TRNT1/NM_001302946.1/1;CC=c.481+168G>C;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.481+168G>C;VC=Intron;DM=TRNT1/PolyA_pol GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C,G:12:0:0:0:11,1:308,11:34.60,0.00:0.00,0.00:34.60,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:68.7,149.0:0,0:0,0:75,115:76,36:10,0:NM_182916.2(TRNT1) c.481+168G>C,NM_182916.2(TRNT1) c.481+168G>C:1,1:NOT_FOUND,NOT_FOUND 3 3186395 . G . . NT END=3188113;NT GT ./. 3 3188308 . G . . NT END=3189133;NT GT ./. 3 3188362 rs1672772 A G 123 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.2614,G/0.7386;Gene=TRNT1/NM_001302946.1/1;CC=c.742+115A>G;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.802+55A>G;VC=Intron;DM=TRNT1/PolyA_pol_RNAbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:9:0:0:34:1067:122.83:20.82:102.01:1.00:1.00:1.00:60:38.5:0:0:111:39:19:NM_182916.2(TRNT1) c.802+55A>G,NM_182916.2(TRNT1) c.802+55A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 3 3188901 rs1714328 A C 33 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.09505,C/0.905;Gene=TRNT1/NM_001302946.1/1;CC=c.743-233A>C;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.803-233A>C;VC=Intron;DM=TRNT1/PolyA_pol_RNAbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:292:33.49:33.49:0.00:1.00:1.00:0.00:60:85.9:0:0:30:120:26:NM_182916.2(TRNT1) c.803-233A>C,NM_182916.2(TRNT1) c.803-233A>C:0.92,0.92:NOT_FOUND,NOT_FOUND 3 3188914 rs1714327 C G 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6016,G/0.3984;Gene=TRNT1/NM_001302946.1/1;CC=c.743-220C>G;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.803-220C>G;VC=Intron;DM=TRNT1/PolyA_pol_RNAbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:334:38.64:38.64:0.00:1.00:1.00:0.00:60:79.8:0:0:37:114:31:NM_182916.2(TRNT1) c.803-220C>G,NM_182916.2(TRNT1) c.803-220C>G:0.42,0.42:NOT_FOUND,NOT_FOUND 3 3189059 rs1621648 T C 146 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.09585,C/0.9042;Gene=TRNT1/NM_001302946.1/1;CC=c.743-75T>C;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.803-75T>C;VC=Intron;DM=TRNT1/PolyA_pol_RNAbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:C:41:36:0:0:41:1264:145.75:119.02:26.73:1.00:1.00:1.00:60:40.1:0:0:56:95:27:NM_182916.2(TRNT1) c.803-75T>C,NM_182916.2(TRNT1) c.803-75T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 3 3189279 rs1705805 A G 232 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.261,G/0.739;PC=1.000;Gene=TRNT1/NM_001302946.1/1;CC=c.888A>G;ProtCh=p.A296=;VC=Silent;Gene=TRNT1/NM_182916.2/0;CC=c.948A>G;ProtCh=p.A316=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:G:65:35:0:0:65:2009:231.56:87.51:144.05:1.00:1.00:1.00:60:40.7:0:0:80:63:30:NM_182916.2(TRNT1) c.948A>G (p.(=)),NM_182916.2(TRNT1) c.948A>G (p.(=)):0.76,0.76:0.733774,0.733774 3 3189388 . G . . NT END=3189589;NT GT ./. 3 3189398 rs1669348 A G 137 nt VT=SNV;PN=T;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.5992,G/0.4008;Gene=TRNT1/NM_001302946.1/1;CC=c.996+11A>G;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.1056+11A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:C,G:37:15:0:0:1,36:10,1199:0.23,136.57:0.00,56.73:0.23,79.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:75.0,59.9:0,0:0,0:141,88:9,62:0,29:NM_182916.2(TRNT1) c.1056+11A>G,NM_182916.2(TRNT1) c.1056+11A>G:0.42,0.42:0.580344,0.580344 3 3189432 rs61392123 G A 77 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.9545,A/0.04553;PC=0.001;Gene=TRNT1/NM_001302946.1/1;CC=c.996+45G>A;VC=Intron;Gene=TRNT1/NM_182916.2/0;CC=c.1056+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:22:0:0:24,15:769,455:77.05,0.00:41.21,0.00:35.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.9,26.4:0,0:0,0:83,53:66,98:39,52:NM_182916.2(TRNT1) c.1056+45G>A,-:0.05,-:0.040915,- 3 3189839 . A . . NT END=3192548;NT GT ./. 3 3192524 rs4183 A ATAAC 129 nt VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.978,C/0.02196;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=394;PC=0.001;Gene=CRBN/NM_001173482.1/0;CC=c.*21_*24dupGTTA;VC=3UTR;Gene=CRBN/NM_016302.3/1;CC=c.*21_*24dupGTTA;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A,C,ATAAC:39:37:36:0:2,1,36:45,11,1150:0.00,0.25,128.84:0.00,0.25,102.80:0.00,0.00,26.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.5,242.0,7.1:1,0,0:0,0,0:120,127,47:26,24,98:16,0,24:NM_016302.3(CRBN) c.*21_*24dupGTTA,NM_016302.3(CRBN) c.*21_*24dupGTTA:0.43,0.43:0.559026,0.559026 3 3192730 . C . . NT END=3194139;NT GT ./. 3 3192903 rs1672770 C T 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.4852,T/0.5148;Gene=CRBN/NM_001173482.1/0;CC=c.1146-174G>A;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.1149-174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:409:47.06:0.00:47.06:1.00:0.00:1.00:60:64.1:0:0:119:31:22:NM_016302.3(CRBN) c.1149-174G>A,NM_016302.3(CRBN) c.1149-174G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 3 3192927 rs1620675 T G 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6094,G/0.3906;Gene=CRBN/NM_001173482.1/0;CC=c.1146-198A>C;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.1149-198A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:319:36.65:0.00:36.65:1.00:0.00:1.00:60:75.8:0:0:122:29:21:NM_016302.3(CRBN) c.1149-198A>C,NM_016302.3(CRBN) c.1149-198A>C:0.41,0.41:NOT_FOUND,NOT_FOUND 3 3193826 rs1055926 T A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6104,A/0.3896;PC=0.110;Gene=CRBN/NM_001173482.1/0;CC=c.1145+314A>T;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.1148+314A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:88.2:0:0:82:65:12:NM_016302.3(CRBN) c.1148+314A>T,NM_016302.3(CRBN) c.1148+314A>T:0.41,0.41:NOT_FOUND,NOT_FOUND 3 3193834 rs66844241 A ATTT 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4922,ATT/.,ATTT/0.5078,ATTTT/.;DB;DBA=NA;PAF=A/0.4922,ATTT/0.5078;DB;DBA=NA;PAF=A/0.4922,ATTT/0.5078;NP=3;PC=0.657;Gene=CRBN/NM_001173482.1/0;CC=c.1145+305_1145+306insAAA;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.1148+305_1148+306insAAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,ATTT:4:4:3:0:1,3:10,99:0.00,10.40:0.00,10.40:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:126.0,75.7:0,0:0,0:99,81:7,70:0,25:-,NM_016302.3(CRBN) c.1148+305_1148+306insAAA:-,NOT_FOUND:-,NOT_FOUND 3 3193957 rs1705800 A C 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.09485,C/0.9052;Gene=CRBN/NM_001173482.1/0;CC=c.1145+183T>G;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.1148+183T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:225:25.84:25.84:0.00:1.00:1.00:0.00:60:52.7:0:0:50:101:19:NM_016302.3(CRBN) c.1148+183T>G,NM_016302.3(CRBN) c.1148+183T>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 3194272 . C . . NT END=3195107;NT GT ./. 3 3195173 . C . . NT END=3195643;NT GT ./. 3 3195760 . C . . NT END=3196430;NT GT ./. 3 3196273 rs397988498 AT A 24 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AT/0.09824,A/0.9018;DB;DBA=NA;PAF=AT/0.09824,A/0.9018;NP=1596;Gene=CRBN/NM_001173482.1/0;CC=c.832+157delA;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.835+157delA;VC=Intron;DM=CRBN/LON_substr_bdg;DM=CRBN/LON_substr_bdg;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:7:7:202:23.51:23.51:0.00:1.00:1.00:0.00:60:11.0:0:0:57:93:37:NM_016302.3(CRBN) c.835+157delA,NM_016302.3(CRBN) c.835+157delA:0.92,0.92:NOT_FOUND,NOT_FOUND 3 3196516 . C . . NT END=3197902;NT GT ./. 3 3197871 rs1705789 T C 127 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.09545,C/0.9046;Gene=CRBN/NM_001173482.1/0;CC=c.747+32A>G;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.750+32A>G;VC=Intron;DM=CRBN/LON_substr_bdg;DM=CRBN/LON_substr_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:30:0:0:35:1099:126.51:95.90:30.61:1.00:1.00:1.00:60:42.4:0:0:51:95:30:NM_016302.3(CRBN) c.750+32A>G,NM_016302.3(CRBN) c.750+32A>G:0.92,0.92:0.90489,0.90489 3 3197966 . C . . NT END=3209317;NT GT ./. 3 3209478 . C . . NT END=3214459;NT GT ./. 3 3209655 rs1672761 A T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4886,T/0.5114;PC=0.177;Gene=CRBN/NM_001173482.1/0;CC=c.525-178T>A;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.528-178T>A;VC=Intron;DM=CRBN/LON_substr_bdg;DM=CRBN/LON_substr_bdg;DM=CRBN/LON_substr_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:T:8:0:0:0:8:210:24.70:0.00:24.70:1.00:0.00:1.00:60:45.6:0:0:115:34:16:NM_016302.3(CRBN) c.528-178T>A,NM_016302.3(CRBN) c.528-178T>A:0.54,0.54:NOT_FOUND,NOT_FOUND 3 3214610 . C . . NT END=3215742;NT GT ./. 3 3214772 rs1619281 C T 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6216,T/0.3784;Gene=CRBN/NM_001173482.1/0;CC=c.375-163G>A;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.378-163G>A;VC=Intron;DM=CRBN/LON_substr_bdg;DM=CRBN/LON_substr_bdg;DM=CRBN/LON_substr_bdg GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:463:52.98:0.00:52.98:1.00:0.00:1.00:60:54.4:0:0:112:38:34:NM_016302.3(CRBN) c.378-163G>A,NM_016302.3(CRBN) c.378-163G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 3215946 . C . . NT END=3216846;NT GT ./. 3 3215954 rs1669321 A G 125 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=in-clinvar;PAF=A/0.1162,G/0.8838;PC=0.003;Gene=CRBN/NM_001173482.1/0;CC=c.172-9T>C;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.175-9T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C,G:34:13:0:0:1,33:19,1101:0.89,125.38:0.00,31.71:0.89,93.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:134.0,42.9:0,0:0,0:51,117:80,29:0,22:NM_016302.3(CRBN) c.175-9T>C,NM_016302.3(CRBN) c.175-9T>C:0.9,0.9:0.881978,0.881978 3 3216622 rs1669320 C T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4742,T/0.5258;Gene=CRBN/NM_001173482.1/0;CC=c.171+225G>A;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.174+225G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:141:16.01:16.01:0.00:1.00:1.00:0.00:60:38.2:0:0:95:54:9:NM_016302.3(CRBN) c.174+225G>A,NM_016302.3(CRBN) c.174+225G>A:0.55,0.55:NOT_FOUND,NOT_FOUND 3 3216714 rs77585218 T A 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4912,A/0.5088;NP=46;Gene=CRBN/NM_001173482.1/0;CC=c.171+133A>T;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.174+133A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:A,T:4:4:0:0:3,1:103,8:10.83,0.00:10.83,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:202.3,64.0:0,0:0,0:38,83:113,62:13,0:NM_016302.3(CRBN) c.174+133A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 3216716 rs116480455 G A,T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4912,T/0.5088 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:24:A,T:4:4:0:0:1,3:30,97:2.88,10.76:2.88,10.76:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:64.0,202.3:1,0:0,0:85,40:60,111:0,13:NM_016302.3(CRBN) c.174+131C>T,NM_016302.3(CRBN) c.174+131C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 3216717 rs115361677 C T 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4912,T/0.5088;Gene=CRBN/NM_001173482.1/0;CC=c.171+130G>A;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.174+130G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:4:4:0:0:1,3:30,99:0.00,10.35:0.00,10.35:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:64.0,202.3:1,3:0,0:86,41:59,110:0,13:-,NM_016302.3(CRBN) c.174+130G>A:-,NOT_FOUND:-,NOT_FOUND 3 3216954 . C . . NT END=3221304;NT GT ./. 3 3216976 rs371001248 G GA 9 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=2;PC=0.370;Gene=CRBN/NM_001173482.1/0;CC=c.68-27dupT;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.68-24dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G,GA,D:31:10:4:2:1,25,4,1:12,734,120,34:0.03,0.00,8.86,2.03:-0.07,0.00,4.38,-0.07:0.10,0.00,4.48,2.10:0.00,0.00,0.64,0.00:0.00,0.00,0.68,0.00:0.00,0.00,0.93,0.00:60,60,60,60:12.0,22.0,4.5,35.0:0,0,0,0:0,0,0,0:124,88,120,16:26,62,30,135:0,33,5,0:-,NM_016302.3(CRBN) c.68-24_68-23insT:-,NOT_FOUND:-,NOT_FOUND 3 3217035 rs75631454 G A 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.9543,A/0.04573;Gene=CRBN/NM_001173482.1/0;CC=c.68-85C>T;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.68-82C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:3:0:0:10,11:327,359:31.16,0.00:3.27,0.00:27.89,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:59.9,6.8:0,0:0,0:101,130:49,18:31,17:NM_016302.3(CRBN) c.68-82C>T,-:0.05,-:NOT_FOUND,- 3 3217128 rs397988499 AT A 15 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AT/0.136,A/0.864;DB;DBA=NA;PAF=AT/0.136,A/0.864;NP=793;Gene=CRBN/NM_001173482.1/0;CC=c.68-179delA;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.68-176delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:AT,A:7:0:0:6:2,5:66,167:0.00,14.81:0.00,0.00:0.00,14.81:0.00,0.97:0.00,0.00:0.00,0.97:60,60:0.0,15.2:0,1:0,0:118,63:32,77:5,31:-,NM_016302.3(CRBN) c.68-176delA:-,NOT_FOUND:-,NOT_FOUND 3 3221060 rs1627185 G A 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.3019,A/0.6981,C/.;PC=0.007;Gene=CRBN/NM_001173482.1/0;CC=c.67+245C>T;VC=Intron;Gene=CRBN/NM_016302.3/1;CC=c.67+245C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:A:13:13:0:0:13:326:38.52:38.52:0.00:1.00:1.00:0.00:60:50.2:0:0:33:85:27:NM_016302.3(CRBN) c.67+245C>T,NM_016302.3(CRBN) c.67+245C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 3 3221372 . G . . NT END=3886325;NT GT ./. 3 3221430 rs1672753 C T 179 nt VT=SNV;PN=G;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.279,T/0.721 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:T:49:21:0:0:49:1560:179.35:49.25:130.10:1.00:1.00:1.00:60:44.7:0:0:107:42:18:NM_016302.3(CRBN) c.-30-u29G>A,NM_016302.3(CRBN) c.-30-u29G>A:0.76,0.76:0.727113,0.727113 3 3221573 rs71058683 G GAACGCC 18 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.598,GAACGCC/0.402;DB;DBA=NA;PAF=G/0.598,GAACGCC/0.402;NP=30;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:G,GAACGCC:8:0:6:0:2,6:67,175:0.00,18.40:0.00,0.00:0.00,18.40:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.0,2.3:0,0:0,0:140,65:7,86:2,33:-,NM_016302.3(CRBN) c.-30-u173_-30-u172insGGCGTT:-,0.43:-,NOT_FOUND 3 3225684 rs1669311 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1268,A/0.8732;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:A,G:8:6:0:0:5,3:167,58:16.83,0.00:6.12,0.00:10.71,0.00:0.97,0.00:1.00,0.00:0.99,0.00:60,60:40.0,36.0:0,0:0,0:20,81:131,18:14,15:NM_016302.3(CRBN) c.-30-u4283C>T,-:0.89,-:NOT_FOUND,- 3 3563779 rs71301173 GACAC G 10 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=67;PC=0.037;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GACAC,G:4:6:0:5:1,3:36,158:0.00,9.53:0.00,7.84:0.00,1.69:0.00,0.73:0.00,0.73:0.00,0.51:60,60:0.0,31.3:0,2:0,0:112,70:39,81:0,23:-,chr3 g.3563780_3563783delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 3781384 rs769620 C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4469,T/0.5531 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:3:0:0:5:131:15.43:6.07:9.36:1.00:1.00:1.00:60:50.2:0:0:41:110:12:chr3 g.3781383C>T (intergenic),chr3 g.3781383C>T (intergenic):0.59,0.59:NOT_FOUND,NOT_FOUND 3 3781407 rs9311156 T TACACACACAC 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TACACACACAC:4:3:4:0:1,3:34,129:0.00,9.87:0.00,-0.20:0.00,10.07:0.00,0.78:0.00,0.94:0.00,0.78:60,60:36.0,71.7:0,1:0,0:142,58:9,92:0,6:-,chr3 g.3781407_3781408insACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 3781442 rs1081131 A C 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4954,C/0.5046 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:168:19.18:3.83:15.36:1.00:1.00:1.00:60:54.4:0:0:97:53:12:chr3 g.3781441A>C (intergenic),chr3 g.3781441A>C (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 3 3886180 rs3749351 T C 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3023,C/0.6977;Gene=LRRN1/NM_020873.5/1;CC=c.-146T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:22:0:0:11,11:370,348:35.63,0.00:35.63,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:52.8,8.0:0,0:0,0:27,55:124,96:15,42:NM_020873.5(LRRN1) c.-146T>C,-:0.71,-:NOT_FOUND,- 3 3886580 rs4685689 A G 458 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=A/0.01318,G/0.9868;PC=0.069;Gene=LRRN1/NM_020873.5/1;CC=c.255A>G;ProtCh=p.A85=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:129:79:0:0:129:3973:458.23:225.90:232.33:1.00:1.00:1.00:60:38.9:0:0:66:80:34:NM_020873.5(LRRN1) c.255A>G (p.(=)),NM_020873.5(LRRN1) c.255A>G (p.(=)):0.99,0.99:0.982239,0.982239 3 3886721 rs3749350 C A 171 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=NA;Gene=LRRN1/NM_020873.5/1;CC=c.396C>A;ProtCh=p.T132=;VC=Silent;DM=LRRN1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:118:70:0:0:53,65:1806,1958:170.75,0.00:106.72,0.00:64.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,7.5:0,0:0,0:86,67:62,73:34,29:NM_020873.5(LRRN1) c.396C>A (p.(=)),-:0.28,-:0.205597,- 3 3886847 rs3749349 G C 200 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.7863,C/0.2137;PC=0.636;Gene=LRRN1/NM_020873.5/1;CC=c.522G>C;ProtCh=p.L174=;VC=Silent;DM=LRRN1/LRR_8;DM=LRRN1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:120:73:0:0:62,58:2065,1889:199.93,0.00:101.11,0.00:98.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.8,11.6:0,0:0,0:65,75:80,65:29,37:NM_020873.5(LRRN1) c.522G>C (p.(=)),-:0.21,-:0.161695,- 3 3886919 rs3749348 C T 186 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.7883,G/.,T/0.2117;PC=1.000;Gene=LRRN1/NM_020873.5/1;CC=c.594C>T;ProtCh=p.I198=;VC=Silent;DM=LRRN1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:116:66:0:0:56,60:1710,1925:0.00,186.29:0.00,82.21:0.00,104.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,56.9:0,0:0,0:78,82:66,59:41,31:-,NM_020873.5(LRRN1) c.594C>T (p.(=)):-,0.21:-,0.160464 3 3887093 rs9844909 A G 155 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.748,G/0.252;PC=0.748;Gene=LRRN1/NM_020873.5/1;CC=c.768A>G;ProtCh=p.Q256=;VC=Silent;DM=LRRN1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:64:0:0:49,50:1515,1611:0.00,155.11:0.00,73.57:0.00,81.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.1,39.5:0,0:0,0:82,74:67,76:36,44:-,NM_020873.5(LRRN1) c.768A>G (p.(=)):-,0.24:-,0.200938 3 3887876 rs2120609 T C 227 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.5216,C/0.4784;PC=0.515;Gene=LRRN1/NM_020873.5/1;CC=c.1551T>C;ProtCh=p.N517=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:130:86:0:0:72,1,57:2311,15,1868:226.86,0.04,0.00:111.53,-0.11,0.00:115.33,0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,241.0,6.2:0,0,0:0,0,0:85,146,83:65,4,67:32,0,39:NM_020873.5(LRRN1) c.1551T>C (p.(=)),-:0.52,-:0.631093,- 3 3888152 rs34745501 C T 192 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.9984,T/0.001597;NP=26;PC=0.933;Gene=LRRN1/NM_020873.5/1;CC=c.1827C>T;ProtCh=p.C609=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:124:82:0:0:1,60,63:11,1962,1993:-0.11,0.00,192.27:-0.01,0.00,93.46:-0.10,0.00,98.80:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:43.0,8.8,38.3:0,0,0:0,0,0:13,81,69:134,62,76:0,32,34:-,NM_020873.5(LRRN1) c.1827C>T (p.(=)):-,0.0018:-,0.003152 3 3888477 . C . . NT END=4345054;NT GT ./. 3 3947384 rs111752264 GCGCACA G 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=12;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:G:3:3:0:4:3:117:9.45:3.00:6.45:0.85:0.99:0.99:60:26.0:1:0:44:106:16:chr3 g.3947385_3947390delCGCACA (intergenic),chr3 g.3947385_3947390delCGCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 4023616 rs1485210 C T 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6739,T/0.3261;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:73.2:0:0:25:124:9:chr3 g.4023615C>T (intergenic),chr3 g.4023615C>T (intergenic):0.36,0.36:NOT_FOUND,NOT_FOUND 3 4023617 rs1485211 C G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6737,G/0.3263;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:73.2:0:0:26:123:9:chr3 g.4023616C>G (intergenic),chr3 g.4023616C>G (intergenic):0.36,0.36:NOT_FOUND,NOT_FOUND 3 4023868 rs1385467 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4339,G/0.5661;PC=0.441 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:5:4:0:0:1,4:34,117:0.00,12.52:0.00,13.22:0.00,-0.70:0.00,0.96:0.00,1.00:0.00,0.87:60,60:0.0,35.5:0,0:0,0:92,44:57,105:0,11:-,chr3 g.4023867A>G (intergenic):-,0.5:-,NOT_FOUND 3 4024066 rs1353819 T C 56 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.7264,C/0.2736;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:19:0:0:16,9:559,284:56.44,0.00:24.80,0.00:31.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,1.2:0,0:0,0:54,97:82,53:25,4:chr3 g.4024065T>C (intergenic),-:0.26,-:NOT_FOUND,- 3 4024657 rs1110796 T C 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:2:0:0:8:263:30.12:3.98:26.14:1.00:1.00:1.00:60:37.1:0:0:111:31:20:chr3 g.4024656T>C (intergenic),chr3 g.4024656T>C (intergenic):0.88,0.88:NOT_FOUND,NOT_FOUND 3 4024973 rs317560 T C 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.01957,C/0.9804;PC=0.744 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:3:0:0:7:228:26.14:9.99:16.15:1.00:1.00:1.00:60:35.7:0:0:66:84:46:chr3 g.4024972T>C (intergenic),chr3 g.4024972T>C (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 3 4025152 rs17039568 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.7047,C/0.2953;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:8:8:0:0:3,5:100,156:9.13,0.00:7.36,0.00:1.78,0.00:0.67,0.00:0.67,0.00:0.58,0.00:60,60:33.3,1.4:0,0:0,0:104,95:47,56:7,53:chr3 g.4025151T>C (intergenic),-:0.27,-:NOT_FOUND,- 3 4025308 rs13076014 T C 42 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6639,C/0.3361;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:16:0:0:13,9:422,296:41.94,0.00:23.38,0.00:18.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,7.7:0,0:0,0:77,73:65,75:14,10:chr3 g.4025307T>C (intergenic),-:0.31,-:NOT_FOUND,- 3 4025703 rs1562080 C T 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1981,T/0.8019;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:173:19.68:11.73:7.95:1.00:1.00:1.00:60:39.8:0:0:88:63:13:chr3 g.4025702C>T (intergenic),chr3 g.4025702C>T (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 3 4222395 rs2600120 G A 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6739,A/0.3261;PC=0.037 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:3:0:0:5:170:19.38:9.29:10.09:1.00:1.00:1.00:60:52.8:0:0:68:58:16:chr3 g.4222394G>A (intergenic),chr3 g.4222394G>A (intergenic):0.35,0.35:NOT_FOUND,NOT_FOUND 3 4345211 . G . . NT END=4345296;NT GT ./. 3 4345553 . G . . NT END=4354581;NT GT ./. 3 4354387 . TA T 11 idl;end,rn VT=DEL;SST=Single;DP=18;NP=3;PC=0.035;Gene=SETMAR/NM_001276325.1/0;CC=c.157-177delA;VC=Intron;Gene=SETMAR/NM_001243723.1/1;CC=c.157-177delA;VC=Intron;Gene=SETMAR/NM_006515.3/0;CC=c.157-177delA;VC=Intron;Gene=SETMAR/NR_075073.1/0;VC=NonCoding;Gene=SETMAR/NR_024022.1/0;VC=NonCoding;DM=SETMAR/Pre-SET;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:TA,I,T:16:18:3:5:10,2,4:313,99,159:0.00,5.14,10.90:0.00,5.14,10.90:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:34.1,40.5,7.8:0,1,1:0,0,0:39,40,4:110,109,146:32,12,2:-,NM_006515.3(SETMAR) c.157-194delA:-,NOT_FOUND:-,NOT_FOUND 3 4355568 . c . . NT END=4403827;NT GT ./. 3 4392029 rs11267751 GTGTGTGTGTATAAT G 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=157;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:GTGTGTGTGTATAAT,G:5:5:0:3:2,3:72,94:0.00,9.37:0.00,7.79:0.00,1.58:0.00,0.78:0.00,0.78:0.00,0.87:60,60:0.0,12.7:0,0:0,0:108,57:22,94:11,8:-,chr3 g.4392030_4392043delTGTGTGTGTATAAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 4403614 rs2819562 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7045,C/0.2955;Gene=SUMF1/NM_001164674.1/0;CC=c.*214A>G;VC=3UTR;Gene=SUMF1/NM_001164675.1/0;CC=c.*214A>G;VC=3UTR;Gene=SUMF1/NM_182760.3/1;CC=c.*214A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:210:23.86:23.86:0.00:1.00:1.00:0.00:60:36.7:0:0:57:93:41:NM_182760.3(SUMF1) c.*214A>G,NM_182760.3(SUMF1) c.*214A>G:0.33,0.33:NOT_FOUND,NOT_FOUND 3 4403767 rs2819561 A G 86 nt VT=SNV;PN=G;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.2955,G/0.7045;PC=0.009;Gene=SUMF1/NM_001164674.1/0;CC=c.*61T>C;VC=3UTR;Gene=SUMF1/NM_001164675.1/0;CC=c.*61T>C;VC=3UTR;Gene=SUMF1/NM_182760.3/1;CC=c.*61T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:50:46:0:0:21,1,28:691,10,875:0.00,-0.00,86.28:0.00,0.03,75.42:0.00,-0.04,10.86:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.7,43.0,127.7:0,0,0:0,0,0:42,46,40:108,104,110:28,0,21:-,NM_182760.3(SUMF1) c.*61T>C:-,0.67:-,NOT_FOUND 3 4403817 rs2633851 T A 105 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=in-clinvar;PAF=T/0.2732,A/0.7268,C/.;PC=0.003;Gene=SUMF1/NM_001164674.1/0;CC=c.*11A>T;VC=3UTR;Gene=SUMF1/NM_001164675.1/0;CC=c.*11A>T;VC=3UTR;Gene=SUMF1/NM_182760.3/1;CC=c.*11A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:64:57:0:0:33,31:1083,969:104.83,0.00:73.82,0.00:31.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:130.0,4.3:0,0:0,0:79,44:71,94:22,29:NM_182760.3(SUMF1) c.*11A>T,-:0.64,-:0.602799,- 3 4403818 rs35083095 T C 114 nt VT=SNV;PN=T;NN=C;SST=Single;DP=66;DB;DBA=in-clinvar;PAF=T/0.5679,C/0.4321;Gene=SUMF1/NM_001164674.1/0;CC=c.*10A>G;VC=3UTR;Gene=SUMF1/NM_001164675.1/0;CC=c.*10A>G;VC=3UTR;Gene=SUMF1/NM_182760.3/1;CC=c.*10A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:59:0:0:35,31:1175,1027:114.38,0.00:82.38,0.00:32.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:125.0,5.6:0,0:0,0:72,43:79,98:30,32:NM_182760.3(SUMF1) c.*10A>G,-:0.43,-:0.378056,- 3 4403837 rs2633852 A G 143 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=78;DB;DBA=in-clinvar;PAF=A/0.2396,G/0.7604;Gene=SUMF1/NM_001164674.1/0;CC=c.1041T>C;ProtCh=p.T347=;VC=Silent;Gene=SUMF1/NM_001164675.1/0;CC=c.1056T>C;ProtCh=p.T352=;VC=Silent;Gene=SUMF1/NM_182760.3/1;CC=c.1116T>C;ProtCh=p.T372=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:66:0:0:36,42:1224,1465:0.00,143.16:0.00,101.53:0.00,41.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,110.7:0,0:0,0:38,76:97,73:24,39:-,NM_182760.3(SUMF1) c.1116T>C (p.(=)):-,0.72:-,0.653621 3 4403939 . C . . NT END=4418013;NT GT ./. 3 4404087 rs2819560 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2957,G/0.7043;Gene=SUMF1/NM_001164674.1/0;CC=c.940-149T>C;VC=Intron;Gene=SUMF1/NM_001164675.1/0;CC=c.955-149T>C;VC=Intron;Gene=SUMF1/NM_182760.3/1;CC=c.1015-149T>C;VC=Intron;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G:11:0:0:0:7,4:206,90:0.00,7.77:0.00,0.00:0.00,7.77:0.00,0.82:0.00,0.00:0.00,0.82:60,60:9.6,76.5:0,0:0,0:112,117:39,32:30,18:-,NM_182760.3(SUMF1) c.1015-149T>C:-,0.66:-,NOT_FOUND 3 4418074 . C . . NT END=4452548;NT GT ./. 3 4452663 . C . . NT END=4458811;NT GT ./. 3 4452737 rs813811 G A 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4203,A/0.5797;Gene=SUMF1/NM_001164674.1/0;CC=c.766-75C>T;VC=Intron;Gene=SUMF1/NM_001164675.1/0;CC=c.841-75C>T;VC=Intron;Gene=SUMF1/NM_182760.3/1;CC=c.841-75C>T;VC=Intron;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:3:0:0:19:594:68.44:7.70:60.73:1.00:1.00:1.00:60:38.2:0:0:110:41:26:NM_182760.3(SUMF1) c.841-75C>T,NM_182760.3(SUMF1) c.841-75C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 3 4458927 . C . . NT END=4459693;NT GT ./. 3 4459817 . C . . NT END=4461747;NT GT ./. 3 4459972 rs698209 A G 115 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.09405,G/0.906;PC=0.002;Gene=SUMF1/NM_001164674.1/0;CC=c.528-156T>C;VC=Intron;Gene=SUMF1/NM_001164675.1/0;CC=c.603-156T>C;VC=Intron;Gene=SUMF1/NM_182760.3/1;CC=c.603-156T>C;VC=Intron;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:C,G,T:33:1:0:0:1,31,1:10,1014,11:0.25,115.29,0.30:0.00,3.45,0.00:0.25,111.84,0.30:0.00,1.00,0.00:0.00,0.96,0.00:0.00,1.00,0.00:60,60,60:52.0,46.6,155.0:0,0,0:0,0,0:86,100,37:65,51,113:0,30,0:NM_182760.3(SUMF1) c.603-156T>C,NM_182760.3(SUMF1) c.603-156T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 3 4461569 rs711667 G A 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2322,A/0.7678;Gene=SUMF1/NM_001164674.1/0;CC=c.527+179C>T;VC=Intron;Gene=SUMF1/NM_001164675.1/0;CC=c.602+179C>T;VC=Intron;Gene=SUMF1/NM_182760.3/1;CC=c.602+179C>T;VC=Intron;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:262:30.02:30.02:0.00:1.00:1.00:0.00:60:41.0:0:0:56:94:38:NM_182760.3(SUMF1) c.602+179C>T,NM_182760.3(SUMF1) c.602+179C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 3 4461698 rs711666 C T 155 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.1132,T/0.8868;PC=0.001;Gene=SUMF1/NM_001164674.1/0;CC=c.527+50G>A;VC=Intron;Gene=SUMF1/NM_001164675.1/0;CC=c.602+50G>A;VC=Intron;Gene=SUMF1/NM_182760.3/1;CC=c.602+50G>A;VC=Intron;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:T:41:38:0:0:41:1359:155.45:133.98:21.47:1.00:1.00:1.00:60:36.4:0:0:33:116:22:NM_182760.3(SUMF1) c.602+50G>A,NM_182760.3(SUMF1) c.602+50G>A:0.91,0.91:0.896279,0.896279 3 4461831 . C . . NT END=4490949;NT GT ./. 3 4491025 . C . . NT END=4494559;NT GT ./. 3 4491046 rs711634 A G 95 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.9876,G/0.01238;PC=0.998;Gene=SUMF1/NM_001164674.1/0;CC=c.444+3514T>C;VC=Intron;Gene=SUMF1/NM_001164675.1/0;CC=c.445-22T>C;VC=Intron;Gene=SUMF1/NM_182760.3/1;CC=c.445-22T>C;VC=Intron;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:29:0:0:21,29:693,961:0.00,95.11:0.00,36.37:0.00,58.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,42.5:0,0:0,0:106,82:41,56:15,24:-,NM_182760.3(SUMF1) c.445-22T>C:-,0.02:-,0.034215 3 4491261 rs711633 T G 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7208,G/0.2792;Gene=SUMF1/NM_001164674.1/0;CC=c.444+3299A>C;VC=Intron;Gene=SUMF1/NM_001164675.1/0;CC=c.445-237A>C;VC=Intron;Gene=SUMF1/NM_182760.3/1;CC=c.445-237A>C;VC=Intron;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase;DM=SUMF1/FGE-sulfatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:304:35.16:0.00:35.16:1.00:0.00:1.00:60:33.1:0:0:116:34:19:NM_182760.3(SUMF1) c.445-237A>C,NM_182760.3(SUMF1) c.445-237A>C:0.31,0.31:NOT_FOUND,NOT_FOUND 3 4494734 . C . . NT END=4508659;NT GT ./. 3 4508742 rs2819590 C T 886 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=249;DB;DBA=NA;PAF=C/0.8834,T/0.1166;PC=0.860;Gene=SUMF1/NM_001164674.1/0;CC=c.188G>A;ProtCh=p.S63N;VC=Missense;Gene=SUMF1/NM_001164675.1/0;CC=c.188G>A;ProtCh=p.S63N;VC=Missense;Gene=SUMF1/NM_182760.3/1;CC=c.188G>A;ProtCh=p.S63N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:249:186:0:0:249:7684:886.38:517.16:369.23:1.00:1.00:1.00:60:40.6:0:0:63:82:35:NM_182760.3(SUMF1) c.188G>A (p.Ser63Asn),NM_182760.3(SUMF1) c.188G>A (p.Ser63Asn):0.14,0.14:0.194413,0.194413 3 4508930 . G . . NT END=4558175;NT GT ./. 3 4558015 rs56378811 A G 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9283,G/0.07169;PC=0.002;Gene=ITPR1/NM_001099952.2/0;CC=c.-16-145A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.-16-145A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.-16-145A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:6:6:0:0:3,3:94,80:0.00,7.61:0.00,7.61:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:5.7,38.3:0,0:0,0:80,39:71,112:65,0:-,NM_001168272.1(ITPR1) c.-16-145A>G:-,0.09:-,NOT_FOUND 3 4558268 . G . . NT END=4562707;NT GT ./. 3 4562779 . G . . NT END=4669446;NT GT ./. 3 4562910 rs304015 G C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.8688,C/0.1312;Gene=ITPR1/NM_001099952.2/0;CC=c.163+132G>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.163+132G>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.163+132G>C;VC=Intron;DM=ITPR1/Ins145_P3_rec;DM=ITPR1/Ins145_P3_rec GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,G:18:0:0:0:5,13:152,441:12.97,0.00:0.00,0.00:12.97,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:32.6,1.6:0,0:0,0:127,72:24,78:17,44:NM_001168272.1(ITPR1) c.163+132G>C,-:0.13,-:NOT_FOUND,- 3 4669563 . G . . NT END=4681067;NT GT ./. 3 4681155 . G . . NT END=4683776;NT GT ./. 3 4683606 rs4685784 G C 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.007188,C/0.9928;NP=2284;Gene=ITPR1/NM_001099952.2/0;CC=c.367-171G>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.367-171G>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.367-171G>C;VC=Intron;DM=ITPR1/Ins145_P3_rec;DM=ITPR1/Ins145_P3_rec GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C,T:14:14:0:0:13,1:414,8:47.18,0.31:47.18,0.31:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:56.6,41.0:0,0:0,0:58,118:92,33:28,0:NM_001168272.1(ITPR1) c.367-171G>C,NM_001168272.1(ITPR1) c.367-171G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 4683936 . G . . NT END=4685819;NT GT ./. 3 4685919 . G . . NT END=4687070;NT GT ./. 3 4686862 rs2686606 A G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1352,G/0.8648;Gene=ITPR1/NM_001099952.2/0;CC=c.625-209A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.625-209A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.625-209A>G;VC=Intron;DM=ITPR1/Ins145_P3_rec;DM=ITPR1/Ins145_P3_rec GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:150:17.34:17.34:0.00:1.00:1.00:0.00:60:42.6:0:0:40:111:5:NM_001168272.1(ITPR1) c.625-209A>G,NM_001168272.1(ITPR1) c.625-209A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 4687155 . G . . NT END=4687265;NT GT ./. 3 4687413 . G . . NT END=4693806;NT GT ./. 3 4687470 rs5846330 G GCT 93 rn VT=INS;SST=Single;DP=40;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2398;PC=0.033;Gene=ITPR1/NM_001099952.2/0;CC=c.855+71_855+72dupCT;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.855+71_855+72dupCT;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.855+71_855+72dupCT;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCT:39:9:31:0:9,30:270,917:0.00,93.08:0.00,7.78:0.00,85.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.1,15.7:0,1:0,0:132,104:13,47:10,16:-,NM_001168272.1(ITPR1) c.855+58_855+59insCT:-,0.94:-,NOT_FOUND 3 4687548 rs4271897 A G 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1256,G/0.8744;PC=0.019;Gene=ITPR1/NM_001099952.2/0;CC=c.855+136A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.855+136A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.855+136A>G;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,G:14:0:0:0:1,13:11,382:0.00,42.92:0.00,0.00:0.00,42.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:80.0,67.3:0,0:0,0:22,94:129,53:0,25:NM_001168272.1(ITPR1) c.855+136A>G,NM_001168272.1(ITPR1) c.855+136A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 4687577 rs4303850 A G 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1484,G/0.8516;PC=0.001;Gene=ITPR1/NM_001099952.2/0;CC=c.855+165A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.855+165A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.855+165A>G;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:353:40.54:0.00:40.54:1.00:0.00:1.00:60:74.9:0:0:115:29:22:NM_001168272.1(ITPR1) c.855+165A>G,NM_001168272.1(ITPR1) c.855+165A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 4693553 rs3796336 C A 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2995,A/0.7005;Gene=ITPR1/NM_001099952.2/0;CC=c.856-254C>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.856-254C>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.856-254C>A;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:6:0:0:7:207:24.03:21.25:2.77:1.00:1.00:1.00:60:69.6:0:0:77:74:31:NM_001168272.1(ITPR1) c.856-254C>A,NM_001168272.1(ITPR1) c.856-254C>A:0.71,0.71:NOT_FOUND,NOT_FOUND 3 4693656 rs6442894 C T 69 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.02915,T/0.9708;PC=0.001;Gene=ITPR1/NM_001099952.2/0;CC=c.856-151C>T;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.856-151C>T;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.856-151C>T;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C,T:21:21:0:0:1,20:11,609:0.00,68.85:0.00,68.85:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:76.0,43.1:0,0:0,0:118,28:33,122:0,16:NM_001168272.1(ITPR1) c.856-151C>T,NM_001168272.1(ITPR1) c.856-151C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 4693903 . G . . NT END=4695525;NT GT ./. 3 4693937 rs6442895 G C 164 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.1731,C/0.8269;Gene=ITPR1/NM_001099952.2/0;CC=c.951+35G>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.951+35G>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.951+35G>C;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:111:A,C:44:19:0:0:1,43:10,1435:0.20,163.57:0.00,47.35:0.20,116.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.0,49.7:0,0:0,0:127,106:24,39:0,28:NM_001168272.1(ITPR1) c.951+35G>C,NM_001168272.1(ITPR1) c.951+35G>C:0.84,0.84:0.758002,0.758002 3 4694010 rs6442896 A C 75 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=ITPR1/NM_001099952.2/0;CC=c.951+108A>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.951+108A>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.951+108A>C;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:1:0:0:22:643:74.78:1.54:73.24:1.00:1.00:1.00:60:71.8:0:0:98:52:29:NM_001168272.1(ITPR1) c.951+108A>C,NM_001168272.1(ITPR1) c.951+108A>C:0.87,0.87:NOT_FOUND,NOT_FOUND 3 4694068 rs6442897 C G 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1416,G/0.8584;Gene=ITPR1/NM_001099952.2/0;CC=c.951+166C>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.951+166C>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.951+166C>G;VC=Intron;DM=ITPR1/MIR;DM=ITPR1/MIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:297:33.99:0.00:33.99:1.00:0.00:1.00:60:79.6:0:0:124:27:13:NM_001168272.1(ITPR1) c.951+166C>G,NM_001168272.1(ITPR1) c.951+166C>G:0.87,0.87:NOT_FOUND,NOT_FOUND 3 4695571 . G . . NT END=4699807;NT GT ./. 3 4699963 . G . . NT END=4702671;NT GT ./. 3 4702772 . G . . NT END=4703765;NT GT ./. 3 4703927 . G . . NT END=4704748;NT GT ./. 3 4704891 . G . . NT END=4706821;NT GT ./. 3 4706981 . G . . NT END=4709060;NT GT ./. 3 4709234 . G . . NT END=4711337;NT GT ./. 3 4711458 . G . . NT END=4712412;NT GT ./. 3 4712413 rs2306875 G A 93 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=64;DB;DBA=in-clinvar;PAF=G/0.386,A/0.614;PC=1.000;Gene=ITPR1/NM_001099952.2/0;CC=c.2007G>A;ProtCh=p.K669=;VC=Silent;Gene=ITPR1/NM_001168272.1/1;CC=c.1962G>A;ProtCh=p.K654=;VC=Silent;Gene=ITPR1/NM_002222.5/0;CC=c.1962G>A;ProtCh=p.K654=;VC=Silent;DM=ITPR1/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:56:0:0:30,34:974,1037:92.53,0.00:76.28,0.00:16.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,8.9:0,0:0,0:49,43:100,93:26,21:NM_001168272.1(ITPR1) c.1962G>A (p.(=)),-:0.6,-:0.680846,- 3 4712611 . G . . NT END=4714819;NT GT ./. 3 4712710 rs2306876 A T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.3888,T/0.6112;Gene=ITPR1/NM_001099952.2/0;CC=c.2204+100A>T;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.2159+100A>T;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.2159+100A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:1:0:0:16,8:543,254:0.00,22.58:0.00,-0.09:0.00,22.67:0.00,0.99:0.00,0.56:0.00,0.99:60,60:9.1,46.8:0,0:0,0:77,74:73,77:36,66:-,NM_001168272.1(ITPR1) c.2159+100A>T:-,0.6:-,NOT_FOUND 3 4714920 rs35789999 A G 177 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.9938,G/0.00619;NP=83;PC=1.000;Gene=ITPR1/NM_001099952.2/0;CC=c.2305A>G;ProtCh=p.M769V;VC=Missense;Gene=ITPR1/NM_001168272.1/1;CC=c.2260A>G;ProtCh=p.M754V;VC=Missense;Gene=ITPR1/NM_002222.5/0;CC=c.2260A>G;ProtCh=p.M754V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:94:63:0:0:38,56:1273,1778:0.00,176.95:0.00,93.85:0.00,83.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,39.7:0,0:0,0:80,73:63,75:32,29:-,NM_001168272.1(ITPR1) c.2260A>G (p.Met754Val):-,0.01:-,0.010625 3 4715072 . G . . NT END=4715885;NT GT ./. 3 4716028 . G . . NT END=4716751;NT GT ./. 3 4716933 . G . . NT END=4718297;NT GT ./. 3 4718486 . G . . NT END=4722236;NT GT ./. 3 4718671 rs4685796 C G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7518,A/.,G/0.2482;Gene=ITPR1/NM_001099952.2/0;CC=c.2940+186C>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.2922+186C>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.2895+186C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,G:7:0:0:0:4,3:132,72:0.00,6.53:0.00,0.00:0.00,6.53:0.00,0.69:0.00,0.00:0.00,0.69:60,60:11.2,36.7:0,0:0,0:63,80:86,71:41,9:-,NM_001168272.1(ITPR1) c.2922+186C>G:-,0.27:-,NOT_FOUND 3 4722376 . G . . NT END=4723047;NT GT ./. 3 4722532 rs9866640 A G 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8718,G/0.1282;Gene=ITPR1/NM_001099952.2/0;CC=c.3079+157A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.3061+157A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.3034+157A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,G:11:0:0:0:7,4:208,129:0.00,11.68:0.00,0.00:0.00,11.68:0.00,0.82:0.00,0.00:0.00,0.82:60,60:10.0,37.5:0,0:0,0:99,107:51,44:34,29:-,NM_001168272.1(ITPR1) c.3061+157A>G:-,0.13:-,NOT_FOUND 3 4723103 . G . . NT END=4725069;NT GT ./. 3 4725236 . G . . NT END=4725311;NT GT ./. 3 4725483 . G . . NT END=4725964;NT GT ./. 3 4725619 rs397813408 CA C 68 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CA/0.2869,C/0.7131;DB;DBA=NA;PAF=CA/0.2869,C/0.7131;NP=1167;Gene=ITPR1/NM_001099952.2/0;CC=c.3471+139delA;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.3453+139delA;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.3426+139delA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:CA,C:23:1:0:20:3,20:95,628:0.00,68.47:0.00,3.52:0.00,64.95:0.00,1.00:0.00,0.91:0.00,1.00:60,60:0.0,12.1:0,0:0,0:148,109:2,41:1,16:-,NM_001168272.1(ITPR1) c.3453+138delA:-,0.71:-,NOT_FOUND 3 4725687 rs2306879 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5835,G/0.4165;Gene=ITPR1/NM_001099952.2/0;CC=c.3471+205A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.3453+205A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.3426+205A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:6:4:0:0:2,4:63,130:0.00,13.25:0.00,10.03:0.00,3.22:0.00,0.93:0.00,0.99:0.00,0.91:60,60:0.0,32.5:0,0:0,0:24,68:126,82:23,24:-,NM_001168272.1(ITPR1) c.3453+205A>G:-,0.38:-,NOT_FOUND 3 4726031 . G . . NT END=4726752;NT GT ./. 3 4726891 . G . . NT END=4730178;NT GT ./. 3 4726947 rs733018 T G 147 nt VT=SNV;PN=T;NN=C;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.7971,G/0.2029;Gene=ITPR1/NM_001099952.2/0;CC=c.3675+57T>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.3657+57T>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.3630+57T>G;VC=Intron;DM=ITPR1/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:93:31:0:0:1,47,45:10,1526,1358:-0.11,147.30,0.00:-0.04,34.51,0.00:-0.06,112.79,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:242.0,37.4,13.2:0,0,0:0,0,0:137,105,105:14,44,45:0,30,31:NM_001168272.1(ITPR1) c.3657+57T>G,-:0.19,-:NOT_FOUND,- 3 4729949 rs34573408 T TC 12 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7188,TC/0.2812;NP=414;Gene=ITPR1/NM_001099952.2/0;CC=c.3676-230_3676-229insC;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.3658-230_3658-229insC;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.3631-230_3631-229insC;VC=Intron;DM=ITPR1/RYDR_ITPR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:T,TC:13:13:5:0:8,5:249,136:0.00,12.22:0.00,12.22:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:21.6,21.8:0,0:0,0:31,59:118,90:18,15:-,NM_001168272.1(ITPR1) c.3658-230_3658-229insC:-,0.32:-,NOT_FOUND 3 4730305 . G . . NT END=4732827;NT GT ./. 3 4732522 rs4684440 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.746,G/0.254;Gene=ITPR1/NM_001099952.2/0;CC=c.3802-306A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.3784-306A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.3757-306A>G;VC=Intron;DM=ITPR1/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:6:6:0:0:2,4:66,130:0.00,13.25:0.00,13.25:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,50.8:0,0:0,0:42,45:108,104:42,17:-,NM_001168272.1(ITPR1) c.3784-306A>G:-,0.3:-,NOT_FOUND 3 4732670 rs4685801 G A 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.749,A/0.251;Gene=ITPR1/NM_001099952.2/0;CC=c.3802-158G>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.3784-158G>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.3757-158G>A;VC=Intron;DM=ITPR1/RYDR_ITPR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:10:10:0:0:6,4:197,131:19.64,0.00:19.64,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:32.8,7.2:0,0:0,0:35,51:116,99:19,16:NM_001168272.1(ITPR1) c.3784-158G>A,-:0.28,-:NOT_FOUND,- 3 4733029 . G . . NT END=4735173;NT GT ./. 3 4735426 . G . . NT END=4738830;NT GT ./. 3 4735533 rs6793265 C T 48 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.9309,T/0.06909;Gene=ITPR1/NM_001099952.2/0;CC=c.4254+108C>T;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4236+108C>T;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4209+108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:35:3:0:0:18,1,16:621,13,511:0.00,0.19,48.49:0.00,-0.01,3.27:0.00,0.20,45.22:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,60,60:3.3,172.0,44.7:0,0,0:0,0,0:60,4,104:90,147,47:27,0,22:-,NM_001168272.1(ITPR1) c.4236+108C>T:-,0.06:-,NOT_FOUND 3 4738653 rs3749381 T C 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.7224,A/.,C/0.2776;PC=0.054;Gene=ITPR1/NM_001099952.2/0;CC=c.4255-178T>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4237-178T>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4210-178T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:9,9:287,311:27.57,0.00:27.57,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:56.4,9.3:0,0:0,0:43,38:107,113:37,31:NM_001168272.1(ITPR1) c.4237-178T>C,-:0.32,-:NOT_FOUND,- 3 4738774 rs3749382 A G 95 nt VT=SNV;PN=T;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.7224,G/0.2776;Gene=ITPR1/NM_001099952.2/0;CC=c.4255-57A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4237-57A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4210-57A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:44:0:0:24,30:755,970:0.00,95.14:0.00,66.80:0.00,28.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,41.5:0,0:0,0:51,69:100,81:23,27:-,NM_001168272.1(ITPR1) c.4237-57A>G:-,0.32:-,NOT_FOUND 3 4738957 . G . . NT END=4741496;NT GT ./. 3 4738999 . GGT G 13 idl,rn VT=DEL;SST=Single;DP=64;NP=8;Gene=ITPR1/NM_001099952.2/0;CC=c.4380+80_4380+81delGT;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4362+80_4362+81delGT;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4335+80_4335+81delGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:GGT,I,G:60:31:7:7:50,4,6:1532,217,220:0.00,8.10,13.27:0.00,3.39,2.88:0.00,4.71,10.38:0.00,0.00,0.81:0.00,0.00,0.88:0.00,0.00,0.97:60,60,60:11.4,41.2,18.5:0,3,1:0,0,0:99,55,82:39,95,69:34,26,22:-,NM_001168272.1(ITPR1) c.4362+44_4362+45delGT:-,NOT_FOUND:-,NOT_FOUND 3 4739139 rs397821590 C CT 8 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=ITPR1/NM_001099952.2/0;CC=c.4380+197_4380+198insT;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4362+197_4362+198insT;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4335+197_4335+198insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,T,CT:14:0:4:0:9,2,3:291,44,126:0.00,3.08,7.96:0.00,0.00,0.00:0.00,3.08,7.96:0.00,0.00,0.55:0.00,0.00,0.00:0.00,0.00,0.55:60,60,60:4.4,81.0,34.0:0,0,1:0,0,0:133,60,58:15,90,92:16,36,10:-,NM_001168272.1(ITPR1) c.4362+183_4362+184insT:-,NOT_FOUND:-,NOT_FOUND 3 4741626 . G . . NT END=4744513;NT GT ./. 3 4741821 rs9311395 A G 34 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7091,G/0.2909;Gene=ITPR1/NM_001099952.2/0;CC=c.4509+196A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4491+196A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4464+196A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:A,G:15:0:0:0:5,10:154,336:0.00,34.22:0.00,0.00:0.00,34.22:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.6,37.5:0,0:0,0:109,83:42,66:27,33:-,NM_001168272.1(ITPR1) c.4491+196A>G:-,0.34:-,NOT_FOUND 3 4744635 . G . . NT END=4747850;NT GT ./. 3 4748036 . G . . NT END=4752008;NT GT ./. 3 4748193 rs34548572 G A 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.861,A/0.139;Gene=ITPR1/NM_001099952.2/0;CC=c.4815+158G>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4797+158G>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4770+158G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:9,6:295,199:29.41,0.00:0.00,0.00:29.41,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.3,20.3:0,0:0,0:97,68:54,80:19,7:NM_001168272.1(ITPR1) c.4797+158G>A,-:0.13,-:NOT_FOUND,- 3 4751802 rs3816835 T G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7646,G/0.2354;Gene=ITPR1/NM_001099952.2/0;CC=c.4816-207T>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4798-207T>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4771-207T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:G,T:17:17:0:0:7,10:166,294:14.82,0.00:14.82,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:67.6,19.7:0,0:0,0:89,67:62,82:30,28:NM_001168272.1(ITPR1) c.4798-207T>G,-:0.3,-:NOT_FOUND,- 3 4752158 . G . . NT END=4753440;NT GT ./. 3 4753298 rs9813210 G A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8798,A/0.1202;Gene=ITPR1/NM_001099952.2/0;CC=c.4965-143G>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.4947-143G>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.4920-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:6:6:0:0:3,3:100,86:9.63,0.00:9.63,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.3,16.0:0,0:0,0:94,62:57,89:6,35:NM_001168272.1(ITPR1) c.4947-143G>A,-:0.12,-:NOT_FOUND,- 3 4753553 . G . . NT END=4759050;NT GT ./. 3 4759084 . G . . NT END=4767229;NT GT ./. 3 4767262 rs7613447 T C 163 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.4878,C/0.5122;PC=0.949;Gene=ITPR1/NM_001099952.2/0;CC=c.5077-7510T>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.5124T>C;ProtCh=p.T1708=;VC=Silent;Gene=ITPR1/NM_002222.5/0;CC=c.5032-7510T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:28:0:0:46:1409:162.81:66.82:96.00:1.00:1.00:1.00:60:41.6:0:0:86:62:37:NM_001168272.1(ITPR1) c.5124T>C (p.(=)),NM_001168272.1(ITPR1) c.5124T>C (p.(=)):0.56,0.56:0.712718,0.712718 3 4767266 . G . . NT END=4768806;NT GT ./. 3 4768858 . G . . NT END=4774771;NT GT ./. 3 4769090 rs34222640 AC A 21 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=AC/0.5096,A/0.4904;NP=392;Gene=ITPR1/NM_001099952.2/0;CC=c.5077-5681delC;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.5175+234delC;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.5032-5681delC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:6:6:181:20.96:0.00:20.96:1.00:0.00:1.00:70:9.0:0:0:101:50:24:NM_001168272.1(ITPR1) c.5175+234delC,NM_001168272.1(ITPR1) c.5175+234delC:0.54,0.54:NOT_FOUND,NOT_FOUND 3 4772103 rs79725720 G T 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2192,T/0.7808;DB;DBA=NA;PAF=NA;Gene=ITPR1/NM_001099952.2/0;CC=c.5077-2669G>T;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.5176-2669G>T;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.5032-2669G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:130:14.91:7.45:7.45:1.00:1.00:1.00:60:79.0:0:0:65:78:12:NM_001168272.1(ITPR1) c.5176-2669G>T,NM_001168272.1(ITPR1) c.5176-2669G>T:0.79,0.79:NOT_FOUND,NOT_FOUND 3 4774905 . G . . NT END=4776847;NT GT ./. 3 4776784 rs11920001 A G 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.8486,G/0.1514;Gene=ITPR1/NM_001099952.2/0;CC=c.5210-64A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.5309-64A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.5165-64A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:30:0:0:23,8:699,247:0.00,20.83:0.00,17.77:0.00,3.06:0.00,0.98:0.00,1.00:0.00,0.81:60,60:4.5,34.9:0,0:0,0:24,42:127,108:19,38:-,NM_001168272.1(ITPR1) c.5309-64A>G:-,0.15:-,NOT_FOUND 3 4777039 . G . . NT END=4808213;NT GT ./. 3 4808395 . G . . NT END=4810194;NT GT ./. 3 4810449 . G . . NT END=4816925;NT GT ./. 3 4810573 rs13086334 T G 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.898,G/0.102;PC=0.310;Gene=ITPR1/NM_001099952.2/0;CC=c.5835+125T>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.5934+125T>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.5790+125T>G;VC=Intron;DM=ITPR1/RIH_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:3:0:0:21,8:670,254:69.58,0.00:5.03,0.00:64.56,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:34.0,15.2:0,0:0,0:117,46:33,103:18,28:NM_001168272.1(ITPR1) c.5934+125T>G,-:0.12,-:NOT_FOUND,- 3 4817057 rs6442905 T C 203 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.03734,C/0.9627;Gene=ITPR1/NM_001099952.2/0;CC=c.5967T>C;ProtCh=p.N1989=;VC=Silent;Gene=ITPR1/NM_001168272.1/1;CC=c.6066T>C;ProtCh=p.N2022=;VC=Silent;Gene=ITPR1/NM_002222.5/0;CC=c.5922T>C;ProtCh=p.N1974=;VC=Silent;DM=ITPR1/RIH_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:159:C:57:33:0:0:57:1759:202.81:87.67:115.14:1.00:1.00:1.00:60:40.1:0:0:85:65:26:NM_001168272.1(ITPR1) c.=,NM_001168272.1(ITPR1) c.=:0.97,0.97:0.965291,0.965291 3 4817127 . G . . NT END=4818947;NT GT ./. 3 4818792 rs4684443 T C 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2226,C/0.7774;PC=1.000;Gene=ITPR1/NM_001099952.2/0;CC=c.6037-156T>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.6136-156T>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.5992-156T>C;VC=Intron;DM=ITPR1/RIH_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:10:10:0:0:4,6:132,178:12.19,0.00:12.19,0.00:0.00,0.00:0.84,0.00:0.84,0.00:0.00,0.00:60,60:33.0,9.5:0,0:0,0:58,31:93,120:10,8:NM_001168272.1(ITPR1) c.6136-156T>C,-:0.79,-:NOT_FOUND,- 3 4819059 . G . . NT END=4821233;NT GT ./. 3 4821330 . G . . NT END=4824302;NT GT ./. 3 4824131 rs6442907 T C 66 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.04273,C/0.9573;Gene=ITPR1/NM_001099952.2/0;CC=c.6244-172T>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.6343-172T>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.6199-172T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:574:65.51:65.51:0.00:1.00:1.00:0.00:60:43.3:0:0:56:95:43:NM_001168272.1(ITPR1) c.6343-172T>C,NM_001168272.1(ITPR1) c.6343-172T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 4824426 . G . . NT END=4825499;NT GT ./. 3 4825605 . G . . NT END=4829630;NT GT ./. 3 4829732 rs13079522 A G 73 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=in-clinvar;PAF=A/0.7544,G/0.2456;Gene=ITPR1/NM_001099952.2/0;CC=c.6573A>G;ProtCh=p.T2191=;VC=Silent;Gene=ITPR1/NM_001168272.1/1;CC=c.6672A>G;ProtCh=p.T2224=;VC=Silent;Gene=ITPR1/NM_002222.5/0;CC=c.6528A>G;ProtCh=p.T2176=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:36:0:0:21,25:730,750:0.00,73.09:0.00,41.35:0.00,31.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.4,33.2:0,0:0,0:54,48:88,91:30,21:-,NM_001168272.1(ITPR1) c.6672A>G (p.(=)):-,0.23:-,0.304878 3 4829824 . G . . NT END=4836748;NT GT ./. 3 4836462 rs2270748 C T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4093,T/0.5907;PC=0.001;Gene=ITPR1/NM_001099952.2/0;CC=c.6665-287C>T;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.6764-287C>T;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.6620-287C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:C,T:8:7:0:0:4,4:115,130:0.00,12.50:0.00,8.92:0.00,3.58:0.00,0.87:0.00,0.99:0.00,0.67:60,60:61.5,42.2:0,0:0,0:100,105:51,45:9,24:-,NM_001168272.1(ITPR1) c.6764-287C>T:-,0.61:-,NOT_FOUND 3 4836872 . G . . NT END=4842108;NT GT ./. 3 4842231 rs2291862 C T 307 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=84;DB;DBA=in-clinvar;PAF=C/0.7354,T/0.2646;PC=0.017;Gene=ITPR1/NM_001099952.2/0;CC=c.6910C>T;ProtCh=p.L2304=;VC=Silent;Gene=ITPR1/NM_001168272.1/1;CC=c.7009C>T;ProtCh=p.L2337=;VC=Silent;Gene=ITPR1/NM_002222.5/0;CC=c.6865C>T;ProtCh=p.L2289=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:84:48:0:0:84:2674:307.34:119.70:187.65:1.00:1.00:1.00:60:38.4:0:0:90:61:35:NM_001168272.1(ITPR1) c.7009C>T (p.(=)),NM_001168272.1(ITPR1) c.7009C>T (p.(=)):0.3,0.3:0.230845,0.230845 3 4842285 . G . . NT END=4847786;NT GT ./. 3 4842488 rs2291861 G T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5335,T/0.4665;Gene=ITPR1/NM_001099952.2/0;CC=c.6963+204G>T;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7062+204G>T;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.6918+204G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:0:0:0:5:107:12.89:0.00:12.89:1.00:0.00:1.00:60:43.4:0:0:139:9:8:NM_001168272.1(ITPR1) c.7062+204G>T,NM_001168272.1(ITPR1) c.7062+204G>T:0.52,0.52:NOT_FOUND,NOT_FOUND 3 4847952 . G . . NT END=4852948;NT GT ./. 3 4853145 . G . . NT END=4854825;NT GT ./. 3 4854919 . G . . NT END=4856106;NT GT ./. 3 4856180 rs711631 T C 122 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=in-clinvar;PAF=T/0.2091,C/0.7909;PC=0.007;Gene=ITPR1/NM_001099952.2/0;CC=c.7491T>C;ProtCh=p.T2497=;VC=Silent;Gene=ITPR1/NM_001168272.1/1;CC=c.7590T>C;ProtCh=p.T2530=;VC=Silent;Gene=ITPR1/NM_002222.5/0;CC=c.7446T>C;ProtCh=p.T2482=;VC=Silent;DM=ITPR1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:90:65:0:0:42,48:1294,1632:122.32,0.00:74.87,0.00:47.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.4,12.8:0,0:0,0:67,59:73,90:29,30:NM_001168272.1(ITPR1) c.7590T>C (p.(=)),-:0.84,-:0.80256,- 3 4856234 rs901854 G A 82 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=78;DB;DBA=in-clinvar;PAF=G/0.4125,A/0.5875;PC=1.000;Gene=ITPR1/NM_001099952.2/0;CC=c.7545G>A;ProtCh=p.K2515=;VC=Silent;Gene=ITPR1/NM_001168272.1/1;CC=c.7644G>A;ProtCh=p.K2548=;VC=Silent;Gene=ITPR1/NM_002222.5/0;CC=c.7500G>A;ProtCh=p.K2500=;VC=Silent;DM=ITPR1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:53:0:0:29,49:905,1604:81.99,0.00:66.24,0.00:15.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.0,23.1:0,0:0,0:98,82:47,64:25,28:NM_001168272.1(ITPR1) c.7644G>A (p.(=)),-:0.61,-:0.595486,- 3 4856247 . G . . NT END=4856736;NT GT ./. 3 4856285 rs76604555 G A 139 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.8956,A/0.1044,T/.;Gene=ITPR1/NM_001099952.2/0;CC=c.7557+39G>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7656+39G>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7512+39G>A;VC=Intron;DM=ITPR1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:28:0:0:42,16:1335,468:138.74,0.00:30.08,0.00:108.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.4,54.8:0,0:0,0:101,108:43,41:23,22:NM_001168272.1(ITPR1) c.7656+39G>A,-:0.08,-:0.104278,- 3 4856430 rs3816252 G A 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6528,A/0.3472;Gene=ITPR1/NM_001099952.2/0;CC=c.7557+184G>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7656+184G>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7512+184G>A;VC=Intron;DM=ITPR1/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G,T:14:2:0:0:8,5,1:253,171,8:25.33,0.00,0.15:3.43,0.00,0.31:21.89,0.00,-0.16:1.00,0.00,0.00:0.85,0.00,0.00:1.00,0.00,0.00:60,60,60:31.9,9.4,119.0:0,0,0:0,0,0:104,100,37:47,51,114:18,45,0:NM_001168272.1(ITPR1) c.7656+184G>A,-:0.37,-:NOT_FOUND,- 3 4856903 . G . . NT END=4859765;NT GT ./. 3 4856993 rs6442911 C G 96 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=NA;Gene=ITPR1/NM_001099952.2/0;CC=c.7723+91C>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7822+91C>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7678+91C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:6:0:0:27:832:96.01:14.11:81.90:1.00:1.00:1.00:60:36.3:0:0:93:58:38:NM_001168272.1(ITPR1) c.7822+91C>G,NM_001168272.1(ITPR1) c.7822+91C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 3 4857669 rs71893491 TAC T,TACAC 11 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=95 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:28:TACAC,T:4:5:1:4:1,3:34,135:3.18,10.86:1.59,5.38:1.59,5.48:0.00,0.78:0.00,0.78:0.00,0.97:60,60:0.0,0.0:0,1:0,0:73,70:77,74:0,16:NM_001168272.1(ITPR1) c.7822+768_7822+769delAC,NM_001168272.1(ITPR1) c.7822+768_7822+769dupAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 4859725 rs9844268 G A 206 nt VT=SNV;PN=G;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.05012,A/0.9499;Gene=ITPR1/NM_001099952.2/0;CC=c.7724-41G>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7823-41G>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7679-41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:A:58:52:0:0:58:1785:206.03:155.46:50.58:1.00:1.00:1.00:60:39.5:0:0:47:97:26:NM_001168272.1(ITPR1) c.7823-41G>A,NM_001168272.1(ITPR1) c.7823-41G>A:0.95,0.95:0.94989,0.94989 3 4859927 . G . . NT END=4878457;NT GT ./. 3 4872805 . T TCACACACA 7 nt VT=INS;SST=Single;DP=4;Gene=ITPR1/NM_001099952.2/0;CC=c.7885-5652_7885-5651insACACACAC;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7984-5652_7984-5651insACACACAC;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7840-5652_7840-5651insACACACAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TCACACACA:4:4:2:0:2,2:70,68:0.00,6.55:0.00,5.06:0.00,1.49:0.00,0.51:0.00,0.51:0.00,0.89:60,60:77.0,180.0:1,0:0,0:90,61:35,90:25,24:-,NM_001168272.1(ITPR1) c.7984-5653_7984-5652insCACACACA:-,NOT_FOUND:-,NOT_FOUND 3 4872807 . T A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;Gene=ITPR1/NM_001099952.2/0;CC=c.7885-5651T>A;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7984-5651T>A;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7840-5651T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,T:4:4:0:0:3,1:104,36:10.85,0.00:7.30,0.00:3.55,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:186.7,0.0:0,1:0,0:67,118:56,32:20,0:NM_001168272.1(ITPR1) c.7984-5651T>A,-:NOT_FOUND,-:NOT_FOUND,- 3 4878166 rs11130159 A G 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.00599,G/0.994;NP=26;Gene=ITPR1/NM_001099952.2/0;CC=c.7885-292A>G;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7984-292A>G;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7840-292A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:211:24.89:24.89:0.00:1.00:1.00:0.00:60:82.1:0:0:34:116:17:NM_001168272.1(ITPR1) c.7984-292A>G,NM_001168272.1(ITPR1) c.7984-292A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 4878216 rs11130160 T C 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.02955,C/0.9704;PC=0.003;Gene=ITPR1/NM_001099952.2/0;CC=c.7885-242T>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7984-242T>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7840-242T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:367:42.38:42.38:0.00:1.00:1.00:0.00:60:70.3:0:0:62:88:33:NM_001168272.1(ITPR1) c.7984-242T>C,NM_001168272.1(ITPR1) c.7984-242T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 4878335 rs2270747 T C 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.2352,C/0.7648;Gene=ITPR1/NM_001099952.2/0;CC=c.7885-123T>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7984-123T>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7840-123T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:39:39:0:0:1,21,17:28,657,527:1.51,64.34,0.00:1.51,64.34,0.00:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,70:28.0,39.8,20.8:0,0,0:0,0,0:1,61,46:109,90,98:0,31,31:NM_001168272.1(ITPR1) c.7984-123T>C,-:0.79,-:NOT_FOUND,- 3 4878419 rs201029025 CTTTTTTTTTTT C 33 idl,nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=CTTTTTTTTTTT/0.2812,C/0.7188;NP=24;PC=0.930;Gene=ITPR1/NM_001099952.2/0;CC=c.7885-25_7885-15delTTTTTTTTTTT;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.7984-25_7984-15delTTTTTTTTTTT;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.7840-25_7840-15delTTTTTTTTTTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:CTTTTTTTTTTT,I,C:40:46:7:25:21,7,12:623,209,740:0.00,16.83,32.83:0.00,13.89,26.62:0.00,2.93,6.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:60,60,70:41.7,87.1,29.3:0,0,12:0,0,0:117,8,50:24,132,90:28,5,32:-,NM_001168272.1(ITPR1) c.7984-38_7984-28delTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 4878620 . G . . NT END=4887822;NT GT ./. 3 4878743 rs41290678 C T 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8808,T/0.1192;Gene=ITPR1/NM_001099952.2/0;CC=c.8046+124C>T;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.8145+124C>T;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.8001+124C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:0:0:0:10,14:316,416:0.00,41.12:0.00,0.00:0.00,41.12:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.0,42.5:0,0:0,0:109,89:41,61:32,21:-,NM_001168272.1(ITPR1) c.8145+124C>T:-,0.13:-,NOT_FOUND 3 4878839 rs10865951 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1246,C/0.8754;PC=0.001;Gene=ITPR1/NM_001099952.2/0;CC=c.8046+220T>C;VC=Intron;Gene=ITPR1/NM_001168272.1/1;CC=c.8145+220T>C;VC=Intron;Gene=ITPR1/NM_002222.5/0;CC=c.8001+220T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:223:26.10:0.00:26.10:1.00:0.00:1.00:60:63.2:0:0:101:49:40:NM_001168272.1(ITPR1) c.8145+220T>C,NM_001168272.1(ITPR1) c.8145+220T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 3 4887910 . G . . NT END=5021403;NT GT ./. 3 4969387 rs10049082 T C 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5302,C/0.4698;Gene=BHLHE40-AS1/NR_037903.3/0;VC=NonCoding;Gene=BHLHE40-AS1/NR_125915.1/0;VC=NonCoding;Gene=BHLHE40-AS1/NR_125916.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:126:14.50:6.60:7.90:1.00:1.00:1.00:60:86.0:0:0:33:112:8:chr3 g.4969386T>C (intergenic),chr3 g.4969386T>C (intergenic):0.44,0.44:NOT_FOUND,NOT_FOUND 3 4990147 . AGT A,AGTGT 13 idl,nt VT=INS;SST=Single;DP=8;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:18:AGT,AGTGT,A:6:7:6:1:1,4,1:13,183,32:0.00,13.11,2.72:0.00,4.32,2.72:0.00,8.79,0.00:0.00,0.87,0.00:0.00,0.99,0.00:0.00,0.51,0.00:60,60,60:83.0,33.2,10.0:1,2,0:0,0,0:77,34,70:74,101,81:0,15,0:chr3 g.4990148_4990149delGT (intergenic),chr3 g.4990148_4990149dupGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 4990197 rs5846346 TTGTG T 8 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=62;PC=0.001;Gene=BHLHE40-AS1/NR_037903.3/0;VC=NonCoding;Gene=BHLHE40-AS1/NR_125915.1/0;VC=NonCoding;Gene=BHLHE40-AS1/NR_125916.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:TTGTG,I,T:11:10:1:3:7,1,3:188,29,89:0.00,2.05,7.67:0.00,0.98,3.10:0.00,1.07,4.58:0.00,0.00,0.60:0.00,0.00,0.93:0.00,0.00,0.89:60,60,60:44.4,0.0,19.7:0,0,0:0,0,0:70,46,74:81,78,77:48,0,9:-,chr3 g.4990198_4990201delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 5021325 rs111860035 A G 83 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.997,G/0.002995,T/.;NP=7;Gene=BHLHE40-AS1/NR_037903.3/0;VC=NonCoding;Gene=BHLHE40-AS1/NR_125915.1/0;VC=NonCoding;Gene=BHLHE40-AS1/NR_125916.1/0;VC=NonCoding;Gene=BHLHE40/NM_003670.2/1;CC=c.-79A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:63:59:0:0:35,1,27:1136,14,890:0.00,0.09,83.42:0.00,0.13,61.92:0.00,-0.04,21.50:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.4,48.0,47.3:0,0,0:0,0,0:32,32,35:118,119,116:24,0,28:-,NM_003670.2(BHLHE40) c.-79A>G:-,0.0046:-,NOT_FOUND 3 5021484 . G . . NT END=5021646;NT GT ./. 3 5021717 . G . . NT END=5021985;NT GT ./. 3 5022094 . G . . NT END=5023076;NT GT ./. 3 5022323 rs56354795 C A 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9934,A/0.006589;Gene=BHLHE40/NM_003670.2/1;CC=c.258+230C>A;VC=Intron;DM=BHLHE40/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:4:1:0:0:3,1:78,34:8.24,0.00:-0.60,0.00:8.84,0.00:0.85,0.00:0.83,0.00:0.99,0.00:60,60:30.3,0.0:0,0:0,0:127,100:24,51:3,0:NM_003670.2(BHLHE40) c.258+230C>A,-:0.01,-:NOT_FOUND,- 3 5022981 . C CT 7 idl,rn VT=INS;SST=Single;DP=28;NP=1;NP=1;Gene=BHLHE40/NM_003670.2/1;CC=c.259-86dupT;VC=Intron;DM=BHLHE40/HLH;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,CT,D:27:26:4:2:22,3,2:729,132,64:0.00,7.24,4.36:0.00,7.49,4.52:0.00,-0.25,-0.16:0.00,0.44,0.00:0.00,0.87,0.00:0.00,0.61,0.00:60,60,60:13.6,36.3,0.0:0,1,0:0,0,0:61,28,54:84,122,94:24,15,46:-,NM_003670.2(BHLHE40) c.259-96_259-95insT:-,NOT_FOUND:-,NOT_FOUND 3 5023201 . G . . NT END=5024520;NT GT ./. 3 5024415 rs551273788 A AT 74 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1596;PC=0.002;Gene=BHLHE40/NM_003670.2/1;CC=c.383-95dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:31:29:22:0:9,22:267,711:0.00,73.51:0.00,67.77:0.00,5.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.3,13.3:1,0:0,0:140,41:11,107:9,21:-,NM_003670.2(BHLHE40) c.383-106_383-105insT:-,0.77:-,NOT_FOUND 3 5025378 . A . . NT END=5163978;NT GT ./. 3 5025514 rs56076357 G GGTGT 21 rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.39,GGTGT/0.61,GGTGTGT/.,GGTGTGTGT/.,GGTGTGTGTGT/.;DB;DBA=NA;PAF=G/0.39,GGTGT/0.61,GGTGTGT/.;NP=5;NP=62;Gene=BHLHE40/NM_003670.2/1;CC=c.*163_*164insGTGT;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGTGT:14:2:8:0:7,7:204,244:0.00,21.02:0.00,3.20:0.00,17.82:0.00,0.99:0.00,0.76:0.00,0.99:60,60:1.6,5.3:0,1:0,0:129,57:19,85:12,15:-,NM_003670.2(BHLHE40) c.*138GT[15]:-,NOT_FOUND:-,NOT_FOUND 3 5073138 rs12635545 T C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7276,C/0.2724;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:126:14.50:10.48:4.03:1.00:1.00:1.00:60:42.5:0:0:41:76:15:chr3 g.5073137T>C (intergenic),chr3 g.5073137T>C (intergenic):0.22,0.22:NOT_FOUND,NOT_FOUND 3 5164274 . G . . NT END=5212187;NT GT ./. 3 5212269 . G . . NT END=5213834;NT GT ./. 3 5213909 . G . . NT END=5214331;NT GT ./. 3 5214426 . G . . NT END=5215701;NT GT ./. 3 5215770 . G . . NT END=5216028;NT GT ./. 3 5216100 . G . . NT END=5220348;NT GT ./. 3 5220469 . T . . NT END=5229490;NT GT ./. 3 5229643 rs144177905 C T 232 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=213;DB;DBA=NA;PAF=C/0.9832,T/0.01677;PC=0.922;Gene=EDEM1/NM_014674.2/1;CC=c.153C>T;ProtCh=p.G51=;VC=Silent;DM=EDEM1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:213:150:0:0:128,85:4208,2536:0.00,231.82:0.00,124.43:0.00,107.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,37.7:0,0:0,0:59,71:84,69:35,38:-,NM_014674.2(EDEM1) c.153C>T (p.(=)):-,0.02:-,0.02098 3 5230000 . G . . NT END=5236893;NT GT ./. 3 5236967 . G . . NT END=5241276;NT GT ./. 3 5241223 rs377120 C T 129 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.09625,T/0.9038;Gene=EDEM1/NM_014674.2/1;CC=c.583-54C>T;VC=Intron;DM=EDEM1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:T:35:33:0:0:35:1127:129.34:106.78:22.56:1.00:1.00:1.00:60:53.3:0:0:61:90:36:NM_014674.2(EDEM1) c.583-54C>T,NM_014674.2(EDEM1) c.583-54C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 5241309 rs410509 C A 198 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.08267,A/0.9173;Gene=EDEM1/NM_014674.2/1;CC=c.615C>A;ProtCh=p.A205=;VC=Silent;DM=EDEM1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A:51:37:0:0:51:1739:198.19:97.07:101.13:1.00:1.00:1.00:60:46.9:0:0:63:82:21:NM_014674.2(EDEM1) c.615C>A (p.(=)),NM_014674.2(EDEM1) c.615C>A (p.(=)):0.94,0.94:0.944103,0.944103 3 5241381 . G . . NT END=5243437;NT GT ./. 3 5243115 rs163766 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.0653,A/0.9347;Gene=EDEM1/NM_014674.2/1;CC=c.687-323G>A;VC=Intron;DM=EDEM1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:60:45.4:0:0:17:134:2:NM_014674.2(EDEM1) c.687-323G>A,NM_014674.2(EDEM1) c.687-323G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 5243610 . G . . NT END=5244650;NT GT ./. 3 5244835 . G . . NT END=5246751;NT GT ./. 3 5246927 . G . . NT END=5248837;NT GT ./. 3 5248959 . G . . NT END=5249777;NT GT ./. 3 5249949 . G . . NT END=5251859;NT GT ./. 3 5249962 . G GT 13 idl,rn VT=INS;SST=Single;DP=58;NP=2;PC=0.109;Gene=EDEM1/NM_014674.2/1;CC=c.1509+27dupT;VC=Intron;DM=EDEM1/Glyco_hydro_47;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G,GT,D:57:22:7:3:1,47,6,3:10,1487,215,87:-0.19,0.00,12.83,5.22:-0.08,0.00,4.41,0.96:-0.11,0.00,8.42,4.26:0.00,0.00,0.82,0.00:0.00,0.00,0.82,0.00:0.00,0.00,0.98,0.00:60,60,70,60:141.0,12.0,35.7,10.7:0,0,1,0:0,0,0,0:77,99,86,81:74,46,30,56:0,22,33,0:-,NM_014674.2(EDEM1) c.1509+14_1509+15insT:-,NOT_FOUND:-,NOT_FOUND 3 5251934 . G . . NT END=5252804;NT GT ./. 3 5252902 . G . . NT END=5255003;NT GT ./. 3 5254685 rs341988 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1332,G/0.8668;Gene=EDEM1/NM_014674.2/1;CC=c.1681-319A>G;VC=Intron;DM=EDEM1/Glyco_hydro_47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:111:13.01:13.01:0.00:1.00:1.00:0.00:60:31.0:0:0:69:81:39:NM_014674.2(EDEM1) c.1681-319A>G,NM_014674.2(EDEM1) c.1681-319A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 5255208 . G . . NT END=5257513;NT GT ./. 3 5257604 . T . . NT END=6903075;NT GT ./. 3 5263532 rs71809234 CTGTGTGTG C 19 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=348;PC=0.932;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:6:5:203:18.79:13.14:5.65:0.99:1.00:1.00:60:82.0:1:0:16:124:4:chr3 g.5263533_5263540delTGTGTGTG (intergenic),chr3 g.5263533_5263540delTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 5263572 rs2600104 C T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1232,T/0.8768;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:195:22.36:12.77:9.59:1.00:1.00:1.00:60:67.5:0:0:48:92:5:chr3 g.5263571C>T (intergenic),chr3 g.5263571C>T (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 3 5383594 rs201540304 G GCA 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9261,GCA/0.07388,GGC/.;NP=41;PC=0.999;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GCA:4:3:2:0:2,2:72,67:0.00,6.45:0.00,1.44:0.00,5.01:0.00,0.51:0.00,0.89:0.00,0.51:60,60:42.0,82.0:1,0:0,0:51,47:87,104:51,2:-,chr3 g.5383594_5383595insCA (intergenic):-,0.08:-,NOT_FOUND 3 5383597 rs73008643 C T,CGTGT 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.7766,T/0.2234;NP=2;NP=2;NP=26;NP=35;NP=9;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:C,T,CGTGT:4:3:1:0:1,2,1:29,70,32:0.00,7.05,2.95:0.00,1.69,1.48:0.00,5.36,1.48:0.00,0.51,0.00:0.00,0.89,0.00:0.00,0.51,0.00:60,60,60:103.0,94.5,33.0:0,2,0:0,0,0:3,45,106:107,105,45:0,5,0:chr3 g.5383596C>T (intergenic),chr3 g.5383597_5383598insGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 5383599 rs6769815 C T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3209,T/0.6791;NP=4;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:132:15.11:5.57:9.54:1.00:1.00:1.00:60:81.8:1:0:45:103:5:chr3 g.5383598C>T (intergenic),chr3 g.5383598C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 5878889 rs3085207 C CTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=14;NP=4;NP=70;NP=70;PC=0.001;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CTG:4:4:2:0:2,2:66,68:0.00,6.55:0.00,4.86:0.00,1.69:0.00,0.51:0.00,0.51:0.00,0.79:60,60:27.0,0.0:0,0:0,0:118,38:25,112:16,27:-,chr3 g.5878889_5878890insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 6060060 rs112928680 C CCA 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=107;NP=53;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CCA:4:3:5:0:4:159:14.22:7.16:7.06:0.96:0.99:1.00:60:14.5:1:0:54:94:22:chr3 g.6060060_6060061insCA (intergenic),chr3 g.6060060_6060061insCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 6332480 rs61568649 AACAC A 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AACAC/0.385,A/0.615;DB;DBA=NA;PAF=AACAC/0.385,A/0.615;NP=231;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:AACAC,A:7:6:0:3:4,3:132,95:0.00,8.85:0.00,5.98:0.00,2.87:0.00,0.69:0.00,0.95:0.00,0.93:60,60:0.0,0.0:0,0:0,0:128,11:22,135:4,1:-,chr3 g.6332481_6332484delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 6534699 rs563352500 CGT C 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=39;PC=0.096;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:CGT,C:4:2:0:3:1,3:7,85:0.00,9.05:0.00,5.28:0.00,3.77:0.00,0.85:0.00,0.95:0.00,0.99:60,60:39.0,99.3:0,0:0,0:53,58:95,76:0,43:-,chr3 g.6534700_6534701delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 6614114 rs59410339 ATG A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;PC=0.003;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:ATG,I,A:5:3:1:2:2,1,2:70,34,66:0.00,2.98,6.31:0.00,3.08,-0.22:0.00,-0.10,6.54:0.00,0.00,0.46:0.00,0.00,0.80:0.00,0.00,0.87:60,60,60:0.0,11.0,0.0:0,0,0:0,0,0:112,66,73:32,85,76:13,0,1:-,chr3 g.6614115_6614116delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 6814988 rs6781770 C T 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5885,T/0.4115;PC=0.995;Gene=GRM7-AS3/NR_110123.1/0;VC=NonCoding;Gene=GRM7-AS3/NR_110125.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:27:12:0:0:1,14,12:32,434,395:2.02,0.00,37.45:1.06,0.00,5.98:0.96,0.00,31.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.0,35.6,35.8:0,0,0:0,0,0:133,74,91:1,68,60:0,23,18:-,chr3 g.6814987C>T (intergenic):-,0.43:-,NOT_FOUND 3 6903595 . G . . NT END=7188138;NT GT ./. 3 6903601 rs342034 A G 316 nt VT=SNV;PN=G;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.01518,G/0.9848;PC=0.999;Gene=GRM7/NM_000844.3/1;CC=c.519+7A>G;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.519+7A>G;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:33:0:0:84:2763:316.28:71.42:244.86:1.00:1.00:1.00:60:39.3:0:0:90:57:36:NM_000844.3(GRM7) c.519+7A>G,NM_000844.3(GRM7) c.519+7A>G:0.97,0.97:0.964555,0.964555 3 6919496 rs56188920 TCACA T 12 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=16;Gene=GRM7/NM_000844.3/1;CC=c.519+15943_519+15946delCACA;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.519+15943_519+15946delCACA;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TCACA,T:6:5:0:5:2,4:65,150:0.00,12.00:0.00,3.08:0.00,8.91:0.00,0.90:0.00,0.98:0.00,0.98:60,60:0.0,13.0:0,1:0,0:130,75:20,76:7,27:-,NM_000844.3(GRM7) c.519+15903_519+15906delCACA:-,NOT_FOUND:-,NOT_FOUND 3 6919972 rs445564 C T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6909,T/0.3091;PC=0.942;Gene=GRM7/NM_000844.3/1;CC=c.519+16378C>T;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.519+16378C>T;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:3:0:0:1,3:34,101:0.00,10.55:0.00,5.03:0.00,5.53:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,33.7:0,0:0,0:39,109:112,41:0,2:-,NM_000844.3(GRM7) c.519+16378C>T:-,0.27:-,NOT_FOUND 3 6923608 rs5846474 T TTG 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;NP=429;PC=0.001;Gene=GRM7/NM_000844.3/1;CC=c.519+20047_519+20048insGT;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.519+20047_519+20048insGT;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TTG:5:5:3:0:2,3:68,99:0.00,9.87:0.00,6.71:0.00,3.16:0.00,0.78:0.00,0.78:0.00,0.97:60,60:5.5,2.7:0,0:0,0:75,61:75,89:26,28:-,NM_000844.3(GRM7) c.519+20014_519+20015insTG:-,NOT_FOUND:-,NOT_FOUND 3 7188006 rs3828472 A C 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7891,C/0.2109;Gene=GRM7/NM_000844.3/1;CC=c.520-133A>C;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.520-133A>C;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:A,C:15:15:0:0:5,10:156,320:0.00,32.62:0.00,32.62:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:34.0,68.0:0,0:0,0:52,69:94,81:10,31:-,NM_000844.3(GRM7) c.520-133A>C:-,0.22:-,NOT_FOUND 3 7188063 rs3749450 T C 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.7835,C/0.2165;Gene=GRM7/NM_000844.3/1;CC=c.520-76T>C;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.520-76T>C;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:13,12:421,348:40.78,0.00:37.67,0.00:3.11,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:66.0,6.7:0,0:0,0:67,37:83,112:54,22:NM_000844.3(GRM7) c.520-76T>C,-:0.23,-:NOT_FOUND,- 3 7188356 . G . . NT END=7340370;NT GT ./. 3 7340172 rs34236450 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.995,A/0.004992;NP=6;PC=0.006;Gene=GRM7/NM_000844.3/1;CC=c.737-199G>A;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.737-199G>A;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:7,13:228,436:20.52,0.00:18.81,0.00:1.71,0.00:0.97,0.00:0.97,0.00:0.57,0.00:60,60:40.6,13.1:0,0:0,0:64,55:87,95:50,41:NM_000844.3(GRM7) c.737-199G>A,-:0.01,-:NOT_FOUND,- 3 7340513 . G . . NT END=7348184;NT GT ./. 3 7348340 . G . . NT END=7456709;NT GT ./. 3 7452285 rs59349079 T C,TACAC 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=1;NP=140;NP=29;NP=3;NP=4;PC=0.001;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:C,TACAC:5:4:1:0:4,1:115,33:12.99,3.08:9.01,1.54:3.98,1.54:0.96,0.00:1.00,0.00:0.97,0.00:60,60:67.0,100.0:1,0:0,0:28,31:101,86:16,0:NM_000844.3(GRM7) c.1034-4425T>C,NM_000844.3(GRM7) c.1034-4425_1034-4424insACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 7456573 . AT A 14 idl,rn VT=DEL;SST=Single;DP=20;NP=15;PC=0.007;Gene=GRM7/NM_000844.3/1;CC=c.1034-124delT;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.1034-124delT;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:AT,I,A:19:20:3:6:11,3,5:317,96,188:0.00,7.79,13.61:0.00,7.79,13.61:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,60:61.4,20.3,57.0:0,0,1:0,0,0:67,64,18:84,86,132:40,54,8:-,NM_000844.3(GRM7) c.1034-136delT:-,NOT_FOUND:-,NOT_FOUND 3 7456675 rs712774 C T 236 nt VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.2985,T/0.7015;Gene=GRM7/NM_000844.3/1;CC=c.1034-35C>T;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.1034-35C>T;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:T:62:56:0:0:62:2063:235.84:188.52:47.32:1.00:1.00:1.00:60:40.5:0:0:60:88:25:NM_000844.3(GRM7) c.1034-35C>T,NM_000844.3(GRM7) c.1034-35C>T:0.68,0.68:0.771839,0.771839 3 7456851 . G . . NT END=7494293;NT GT ./. 3 7494245 rs111752136 TTG T 98 idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=634;PC=0.047;Gene=GRM7/NM_000844.3/1;CC=c.1175-21_1175-20delGT;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.1175-21_1175-20delGT;VC=Intron;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:TTG,T:36:38:0:35:6,30:149,1038:0.00,98.33:0.00,91.20:0.00,7.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.5,14.8:1,4:0,0:130,34:20,116:10,16:-,NM_000844.3(GRM7) c.1175-48_1175-47delTG:-,NOT_FOUND:-,NOT_FOUND 3 7494417 rs2229902 A T 354 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=A/0.8427,T/0.1573;PC=0.818;Gene=GRM7/NM_000844.3/1;CC=c.1298A>T;ProtCh=p.Y433F;VC=Missense;Gene=GRM7/NM_181874.2/0;CC=c.1298A>T;ProtCh=p.Y433F;VC=Missense;DM=GRM7/ANF_receptor;DM=GRM7/ANF_receptor GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:96:62:0:0:96:3086:354.27:155.24:199.04:1.00:1.00:1.00:60:38.3:0:0:74:74:28:NM_000844.3(GRM7) c.1298A>T (p.Tyr433Phe),NM_000844.3(GRM7) c.1298A>T (p.Tyr433Phe):0.22,0.22:0.320929,0.320929 3 7494495 . G . . NT END=7503269;NT GT ./. 3 7503410 . G . . NT END=7620108;NT GT ./. 3 7620168 rs34373930 A G 382 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.8295,G/0.1705;PC=0.978;Gene=GRM7/NM_000844.3/1;CC=c.1575A>G;ProtCh=p.L525=;VC=Silent;Gene=GRM7/NM_181874.2/0;CC=c.1575A>G;ProtCh=p.L525=;VC=Silent;DM=GRM7/NCD3G;DM=GRM7/NCD3G GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:101:87:0:0:101:3344:382.41:260.22:122.19:1.00:1.00:1.00:60:43.1:0:0:62:83:34:NM_000844.3(GRM7) c.1575A>G (p.(=)),NM_000844.3(GRM7) c.1575A>G (p.(=)):0.2,0.2:0.212825,0.212825 3 7620382 rs7614915 C T 432 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.8297,T/0.1703;PC=1.000;Gene=GRM7/NM_000844.3/1;CC=c.1789C>T;ProtCh=p.L597=;VC=Silent;Gene=GRM7/NM_181874.2/0;CC=c.1789C>T;ProtCh=p.L597=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:116:73:0:0:1,115:11,3789:0.00,431.75:0.00,232.39:0.00,199.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:137.0,44.9:0,0:0,0:133,72:18,74:0,30:NM_000844.3(GRM7) c.1789C>T (p.(=)),NM_000844.3(GRM7) c.1789C>T (p.(=)):0.2,0.2:0.212825,0.212825 3 7620789 rs1485175 T C 267 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.4744,C/0.5256;PC=0.819;Gene=GRM7/NM_000844.3/1;CC=c.2196T>C;ProtCh=p.Y732=;VC=Silent;Gene=GRM7/NM_181874.2/0;CC=c.2196T>C;ProtCh=p.Y732=;VC=Silent;DM=GRM7/7tm_3;DM=GRM7/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:42:0:0:76:2315:267.38:117.35:150.04:1.00:1.00:1.00:60:60.5:0:0:81:64:36:NM_000844.3(GRM7) c.2196T>C (p.(=)),NM_000844.3(GRM7) c.2196T>C (p.(=)):0.55,0.55:0.564586,0.564586 3 7620828 rs1485174 G A 272 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.8293,A/0.1707;PC=0.901;Gene=GRM7/NM_000844.3/1;CC=c.2235G>A;ProtCh=p.G745=;VC=Silent;Gene=GRM7/NM_181874.2/0;CC=c.2235G>A;ProtCh=p.G745=;VC=Silent;DM=GRM7/7tm_3;DM=GRM7/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:73:40:0:0:73:2375:272.23:121.15:151.08:1.00:1.00:1.00:60:62.6:0:0:81:67:37:NM_000844.3(GRM7) c.2235G>A (p.(=)),NM_000844.3(GRM7) c.2235G>A (p.(=)):0.2,0.2:0.21221,0.21221 3 7621045 . G . . NT END=7721735;NT GT ./. 3 7621093 rs1485173 T A 84 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8297,A/0.1703;PC=0.002;Gene=GRM7/NM_000844.3/1;CC=c.2451+49T>A;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.2451+49T>A;VC=Intron;DM=GRM7/7tm_3;DM=GRM7/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:5:0:0:23:731:84.01:13.02:70.99:1.00:1.00:1.00:60:58.6:0:0:92:59:33:NM_000844.3(GRM7) c.2451+49T>A,NM_000844.3(GRM7) c.2451+49T>A:0.2,0.2:0.202851,0.202851 3 7621158 rs1485172 T C 41 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4964,C/0.5036;Gene=GRM7/NM_000844.3/1;CC=c.2451+114T>C;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.2451+114T>C;VC=Intron;DM=GRM7/7tm_3;DM=GRM7/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C,G:12:0:0:0:11,1:361,11:40.93,0.58:0.00,0.00:40.93,0.58:1.00,0.00:0.00,0.00:1.00,0.00:60,60:64.8,160.0:0,0:0,0:117,139:34,11:18,0:NM_000844.3(GRM7) c.2451+114T>C,NM_000844.3(GRM7) c.2451+114T>C:0.52,0.52:NOT_FOUND,NOT_FOUND 3 7698209 rs576010138 A AT 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8067,T/0.1933;DB;DBA=NA;PAF=NA;PC=0.001;Gene=GRM7/NM_000844.3/1;CC=c.2452-23527_2452-23526insT;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.2452-23527_2452-23526insT;VC=Intron;DM=GRM7/7tm_3;DM=GRM7/7tm_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,T,AT:4:4:2:0:1,1,2:33,31,64:0.00,2.85,6.45:0.00,2.85,6.45:0.00,0.00,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.00:60,60,60:53.0,99.0,55.5:0,0,0:0,0,0:5,4,64:145,147,86:0,0,46:-,NM_000844.3(GRM7) c.2452-23527_2452-23526insT:-,NOT_FOUND:-,NOT_FOUND 3 7698232 rs112556231 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=61;Gene=GRM7/NM_000844.3/1;CC=c.2452-23504G>A;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.2452-23504G>A;VC=Intron;DM=GRM7/7tm_3;DM=GRM7/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G,T:4:4:0:0:2,1,1:69,31,13:6.95,0.00,1.05:6.95,0.00,1.05:0.00,0.00,0.00:0.51,0.00,0.00:0.51,0.00,0.00:0.00,0.00,0.00:60,60,60:99.0,53.0,12.0:1,1,1:0,0,0:39,28,130:111,122,20:8,0,0:NM_000844.3(GRM7) c.2452-23504G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 7721509 rs162803 G C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.07049,C/0.9295;Gene=GRM7/NM_000844.3/1;CC=c.2452-227G>C;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.2452-227G>C;VC=Intron;DM=GRM7/7tm_3;DM=GRM7/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:239:27.24:27.24:0.00:1.00:1.00:0.00:60:67.3:0:0:23:128:12:NM_000844.3(GRM7) c.2452-227G>C,NM_000844.3(GRM7) c.2452-227G>C:0.92,0.92:NOT_FOUND,NOT_FOUND 3 7721613 rs162802 T C 116 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.6719,C/0.3281;Gene=GRM7/NM_000844.3/1;CC=c.2452-123T>C;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.2452-123T>C;VC=Intron;DM=GRM7/7tm_3;DM=GRM7/7tm_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:29:0:0:32:1004:115.60:105.96:9.64:1.00:1.00:1.00:60:43.2:0:0:39:111:26:NM_000844.3(GRM7) c.2452-123T>C,NM_000844.3(GRM7) c.2452-123T>C:0.33,0.33:NOT_FOUND,NOT_FOUND 3 7721983 . G . . NT END=7728043;NT GT ./. 3 7721997 rs2280739 G A 111 nt VT=SNV;PN=C;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.8864,A/0.1136;PC=0.001;Gene=GRM7/NM_000844.3/1;CC=c.2698+15G>A;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.2698+15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:29:0:0:39,60:1215,1925:111.23,0.00:13.10,0.00:98.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,7.2:0,0:0,0:108,92:32,57:28,26:NM_000844.3(GRM7) c.2698+15G>A,-:0.1,-:0.133169,- 3 7728136 . G . . NT END=7732896;NT GT ./. 3 7732726 rs71043690 AT A 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=127;PC=0.834;Gene=GRM7/NM_000844.3/1;CC=c.2698+10755delT;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.*21+4602delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:4:3:116:9.35:9.35:0.00:0.85:0.85:0.00:60:22.7:1:0:38:112:11:NM_000844.3(GRM7) c.2698+10745delT,NM_000844.3(GRM7) c.2698+10745delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 7733016 . G . . NT END=7735319;NT GT ./. 3 7735380 . G . . NT END=7736049;NT GT ./. 3 7736147 . G . . NT END=7782043;NT GT ./. 3 7781858 rs62233907 C G 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9387,G/0.0613;PC=0.003;Gene=GRM7/NM_000844.3/1;CC=c.2699-186C>G;VC=Intron;Gene=GRM7/NM_181874.2/0;CC=c.*22-186C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:13:0:0:13:388:44.95:44.95:0.00:1.00:1.00:0.00:60:39.5:0:0:86:65:23:NM_000844.3(GRM7) c.2699-186C>G,NM_000844.3(GRM7) c.2699-186C>G:0.06,0.06:NOT_FOUND,NOT_FOUND 3 7782094 . C . . NT END=8543624;NT GT ./. 3 7838964 rs373630174 A ATGTGTGTG 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=6;NP=7;PC=0.003;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,ATGTGTGTG:4:4:3:0:1,3:29,100:0.00,10.45:0.00,8.58:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,70:36.0,6.7:0,0:0,0:69,69:42,42:0,19:-,chr3 g.7838964_7838965insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 8156485 rs59595907 TAC T 10 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=442;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TAC,T:4:4:0:3:1,3:34,94:0.00,9.85:0.00,8.48:0.00,1.38:0.00,0.85:0.00,0.85:0.00,0.95:60,60:0.0,4.3:0,0:0,0:38,64:113,86:0,20:-,chr3 g.8156486_8156487delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 8185858 rs142868136 G GACACACAC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8908,GAC/.,GACACACAC/.,GACACACACACACACAC/0.1092;NP=129;PC=0.001;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:G,GACACACAC:4:2:3:0:1,3:14,96:0.00,10.07:0.00,5.13:0.00,4.94:0.00,0.85:0.00,0.95:0.00,0.99:60,60:125.0,43.3:0,0:0,0:67,41:83,96:0,17:-,chr3 g.8185858_8185859insACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 8185880 rs484117 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4625,C/0.5375;NP=510 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:130:14.91:5.97:8.94:1.00:1.00:1.00:60:63.8:0:0:79:63:13:chr3 g.8185879T>C (intergenic),chr3 g.8185879T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 8185901 rs71046300 TCAAG T 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TCAAG/0.4625,T/0.5375;DB;DBA=NA;PAF=TCAAG/0.4625,T/0.5375;NP=567;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:4:4:125:14.41:4.96:9.44:1.00:1.00:1.00:60:63.8:0:0:100:42:13:chr3 g.8185902_8185905delCAAG (intergenic),chr3 g.8185902_8185905delCAAG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 8229127 rs34615788 TAC T 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=22;PC=0.009;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:TAC,T:8:8:0:3:5,3:162,98:0.00,8.93:0.00,7.36:0.00,1.57:0.00,0.67:0.00,0.67:0.00,0.67:60,60:24.8,38.7:1,0:0,0:40,29:69,122:39,22:-,chr3 g.8229128_8229129delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 8268564 rs144094285 G GGT 18 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5889,GGT/0.4111;NP=2;NP=96;PC=0.002;Gene=LMCD1-AS1/NR_033378.1/0;VC=NonCoding;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GGT:5:3:5:0:5:157:18.08:6.65:11.43:1.00:1.00:1.00:60:13.0:0:0:56:93:42:NR_033378.1(LMCD1-AS1) n.575-4159_575-4158insAC,NR_033378.1(LMCD1-AS1) n.575-4159_575-4158insAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 8275571 rs1844183 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1198,A/0.8802;Gene=LMCD1-AS1/NR_033378.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:11.13:3.78:1.00:1.00:1.00:60:75.0:0:0:11:137:3:NR_033378.1(LMCD1-AS1) n.575-11165C>T,NR_033378.1(LMCD1-AS1) n.575-11165C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 3 8275572 rs1844182 T C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1388,C/0.8612;Gene=LMCD1-AS1/NR_033378.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:138:15.71:11.63:4.08:1.00:1.00:1.00:60:76.0:0:0:12:136:3:NR_033378.1(LMCD1-AS1) n.575-11166A>G,NR_033378.1(LMCD1-AS1) n.575-11166A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 8543667 . G . . NT END=8574422;NT GT ./. 3 8543713 rs5846598 G GT 86 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3389;Gene=LMCD1/NM_001278235.1/0;CC=c.42+49dupT;VC=Intron;Gene=LMCD1/NM_001278233.1/0;CC=c.-89+49dupT;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.-39+49dupT;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.42+49dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:G,GT:27:9:24:0:3,24:94,790:0.00,86.36:0.00,14.20:0.00,72.16:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,13.3:0,0:0,0:148,95:1,53:2,22:-,NM_014583.2(LMCD1) c.42+47_42+48insT:-,1:-,0.999681 3 8543757 rs2324625 A C 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.7214,C/0.2786;Gene=LMCD1/NM_001278235.1/0;CC=c.42+91A>C;VC=Intron;Gene=LMCD1/NM_001278233.1/0;CC=c.-89+91A>C;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.-39+91A>C;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.42+91A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:3:0:0:6,9:208,285:0.00,28.41:0.00,5.68:0.00,22.73:0.00,1.00:0.00,0.94:0.00,1.00:60,60:0.0,31.7:0,0:0,0:129,122:22,28:16,5:-,NM_014583.2(LMCD1) c.42+91A>C:-,0.31:-,NOT_FOUND 3 8574512 . G . . NT END=8578870;NT GT ./. 3 8578597 rs67741906 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8702,A/0.1298;Gene=LMCD1/NM_001278235.1/0;CC=c.132-274G>A;VC=Intron;Gene=LMCD1/NM_001278233.1/0;CC=c.-88-274G>A;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.51+4086G>A;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.132-274G>A;VC=Intron;DM=LMCD1/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:8:8:0:0:5,3:170,94:17.09,0.00:17.09,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:36.4,4.0:0,0:0,0:73,28:78,121:53,19:NM_014583.2(LMCD1) c.132-274G>A,-:0.11,-:NOT_FOUND,- 3 8578748 rs17049237 C T 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8688,T/0.1312;Gene=LMCD1/NM_001278235.1/0;CC=c.132-123C>T;VC=Intron;Gene=LMCD1/NM_001278233.1/0;CC=c.-88-123C>T;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.51+4237C>T;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.132-123C>T;VC=Intron;DM=LMCD1/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:37:0:0:15,22:441,738:0.00,73.44:0.00,69.78:0.00,3.66:0.00,1.00:0.00,1.00:0.00,0.94:60,60:20.7,42.2:0,0:0,0:36,59:115,91:28,45:-,NM_014583.2(LMCD1) c.132-123C>T:-,0.11:-,NOT_FOUND 3 8579127 . G . . NT END=8590253;NT GT ./. 3 8579290 rs6784343 G A 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8724,A/0.1276;PC=0.001;Gene=LMCD1/NM_001278235.1/0;CC=c.387+164G>A;VC=Intron;Gene=LMCD1/NM_001278233.1/0;CC=c.168+164G>A;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.51+4779G>A;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.387+164G>A;VC=Intron;DM=LMCD1/PET;DM=LMCD1/PET;DM=LMCD1/PET;DM=LMCD1/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:17:0:0:0:7,9,1:225,283,15:21.07,0.00,0.57:0.00,0.00,0.00:21.07,0.00,0.57:0.98,0.00,0.00:0.00,0.00,0.00:0.98,0.00,0.00:60,60,60:36.6,6.2,103.0:0,0,0:0,0,0:117,115,84:34,35,67:23,12,0:NM_014583.2(LMCD1) c.387+164G>A,-:0.1,-:NOT_FOUND,- 3 8579342 rs78091835 G T 20 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.8922,T/0.1078;Gene=LMCD1/NM_001278235.1/0;CC=c.387+216G>T;VC=Intron;Gene=LMCD1/NM_001278233.1/0;CC=c.168+216G>T;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.51+4831G>T;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.387+216G>T;VC=Intron;DM=LMCD1/PET;DM=LMCD1/PET;DM=LMCD1/PET;DM=LMCD1/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:G,T:10:0:0:0:3,7:82,197:0.00,20.37:0.00,0.00:0.00,20.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:29.0,50.3:0,0:0,0:135,36:16,112:10,35:-,NM_014583.2(LMCD1) c.387+216G>T:-,0.11:-,NOT_FOUND 3 8590313 rs3088339 T C 192 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.87,C/0.13;Gene=LMCD1/NM_001278235.1/0;CC=c.447T>C;ProtCh=p.G149=;VC=Silent;Gene=LMCD1/NM_001278233.1/0;CC=c.228T>C;ProtCh=p.G76=;VC=Silent;Gene=LMCD1/NM_001278234.1/0;CC=c.111T>C;ProtCh=p.G37=;VC=Silent;Gene=LMCD1/NM_014583.3/1;CC=c.447T>C;ProtCh=p.G149=;VC=Silent;DM=LMCD1/PET;DM=LMCD1/PET;DM=LMCD1/PET;DM=LMCD1/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:104:84:0:0:1,60,43:10,1941,1329:-0.09,192.25,0.00:-0.01,107.81,0.00:-0.07,84.44,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:42.0,46.9,9.4:1,0,0:0,0,0:27,58,60:121,84,91:0,33,30:NM_014583.2(LMCD1) c.447T>C (p.(=)),-:0.1,-:0.113255,- 3 8590590 . G . . NT END=8591717;NT GT ./. 3 8591469 rs73020399 G A 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9217,A/0.07827;PC=0.029;Gene=LMCD1/NM_001278235.1/0;CC=c.724-91G>A;VC=Intron;Gene=LMCD1/NM_001278233.1/0;CC=c.504+880G>A;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+880G>A;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+880G>A;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:A,G:7:7:0:0:3,4:73,133:6.60,0.00:6.60,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:93.3,2.0:0,0:0,0:29,49:121,101:4,24:NM_014583.2(LMCD1) c.723+880G>A,-:0.05,-:NOT_FOUND,- 3 8591914 rs73135679 T C 183 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.8758,C/0.1242;Gene=LMCD1/NM_001278235.1/0;CC=c.*334T>C;VC=3UTR;Gene=LMCD1/NM_001278233.1/0;CC=c.504+1325T>C;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+1325T>C;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+1325T>C;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:132:75:0:0:61,71:1937,2153:183.11,0.00:80.62,0.00:102.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.2,9.8:0,0:0,0:78,74:69,77:34,37:NM_014583.2(LMCD1) c.723+1325T>C,-:0.1,-:NOT_FOUND,- 3 8592117 rs2279974 A G 504 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.1506,G/0.8494;Gene=LMCD1/NM_001278235.1/0;CC=c.*537A>G;VC=3UTR;Gene=LMCD1/NM_001278233.1/0;CC=c.504+1528A>G;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+1528A>G;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+1528A>G;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:139:92:0:0:139:4383:504.03:252.32:251.70:1.00:1.00:1.00:60:37.1:0:0:74:73:33:NM_014583.2(LMCD1) c.723+1528A>G,NM_014583.2(LMCD1) c.723+1528A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 3 8592413 rs61689064 CT C 116 PASS VT=DEL;SST=Single;DP=94;DB;DBA=NA;PAF=CT/0.6909,C/0.3091;NP=6;Gene=LMCD1/NM_001278235.1/0;CC=c.*837delT;VC=3UTR;Gene=LMCD1/NM_001278233.1/0;CC=c.504+1828delT;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+1828delT;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+1828delT;VC=Intron;DM=LMCD1/LIM;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:94:57:0:40:54,40:1700,1251:0.00,116.37:0.00,61.09:0.00,55.28:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.4,8.6:0,0:0,0:85,72:65,72:43,45:-,NM_014583.2(LMCD1) c.723+1825delT:-,0.26:-,NOT_FOUND 3 8592573 rs1545416 G A 129 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.7167,A/0.2833;Gene=LMCD1/NM_001278235.1/0;CC=c.*993G>A;VC=3UTR;Gene=LMCD1/NM_001278233.1/0;CC=c.504+1984G>A;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+1984G>A;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+1984G>A;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:47:0:0:43,46:1348,1519:128.53,0.00:51.58,0.00:76.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,6.3:0,0:0,0:75,45:76,95:28,31:NM_014583.2(LMCD1) c.723+1984G>A,-:0.24,-:NOT_FOUND,- 3 8592803 rs1545415 T C 72 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.7163,C/0.2837;Gene=LMCD1/NM_001278235.1/0;CC=c.*1223T>C;VC=3UTR;Gene=LMCD1/NM_001278233.1/0;CC=c.504+2214T>C;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+2214T>C;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+2214T>C;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:38:0:0:24,44:799,1408:72.18,0.00:35.74,0.00:36.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,3.6:0,0:0,0:89,71:61,74:32,37:NM_014583.2(LMCD1) c.723+2214T>C,-:0.24,-:NOT_FOUND,- 3 8592934 rs1971884 T C 97 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.8678,C/0.1322;Gene=LMCD1/NM_001278235.1/0;CC=c.*1354T>C;VC=3UTR;Gene=LMCD1/NM_001278233.1/0;CC=c.504+2345T>C;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+2345T>C;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+2345T>C;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:41:0:0:30,36:1020,1162:96.56,0.00:54.68,0.00:41.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.9,7.8:0,0:0,0:60,64:89,84:40,39:NM_014583.2(LMCD1) c.723+2345T>C,-:0.11,-:NOT_FOUND,- 3 8592961 . T . . NT END=8607117;NT GT ./. 3 8593038 rs1971883 G A 90 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.8722,A/0.1278;Gene=LMCD1/NM_001278233.1/0;CC=c.504+2449G>A;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.387+2449G>A;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.723+2449G>A;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:25:0:0:28,25:925,838:89.95,0.00:23.98,0.00:65.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.6,3.8:0,0:0,0:99,99:51,52:15,31:NM_014583.2(LMCD1) c.723+2449G>A,-:0.1,-:NOT_FOUND,- 3 8607334 . G . . NT END=8609125;NT GT ./. 3 8607533 rs1965215 G C 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5248,C/0.4752;Gene=LMCD1/NM_001278233.1/0;CC=c.720+200G>C;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.603+200G>C;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.939+200G>C;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:0:0:0:16:471:54.68:0.00:54.68:1.00:0.00:1.00:60:43.4:0:0:96:54:34:NM_014583.2(LMCD1) c.939+200G>C,NM_014583.2(LMCD1) c.939+200G>C:0.47,0.47:NOT_FOUND,NOT_FOUND 3 8608920 rs171408 G A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.2841,A/0.7159,T/.;Gene=LMCD1/NM_001278233.1/0;CC=c.721-206G>A;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.604-206G>A;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.940-206G>A;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:9:0:0:9:290:33.29:33.29:0.00:1.00:1.00:0.00:60:40.3:0:0:34:117:31:NM_014583.2(LMCD1) c.940-206G>A,NM_014583.2(LMCD1) c.940-206G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 3 8609071 rs3774212 G A 162 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.6855,A/0.3145;Gene=LMCD1/NM_001278233.1/0;CC=c.721-55G>A;VC=Intron;Gene=LMCD1/NM_001278234.1/0;CC=c.604-55G>A;VC=Intron;Gene=LMCD1/NM_014583.3/1;CC=c.940-55G>A;VC=Intron;DM=LMCD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:A:46:40:0:0:46:1406:162.37:129.28:33.08:1.00:1.00:1.00:60:38.2:0:0:51:100:29:NM_014583.2(LMCD1) c.940-55G>A,NM_014583.2(LMCD1) c.940-55G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 3 8609285 . A . . NT END=8661553;NT GT ./. 3 8661701 . C . . NT END=8665234;NT GT ./. 3 8665343 . C . . NT END=8667227;NT GT ./. 3 8667334 . C . . NT END=8667914;NT GT ./. 3 8667670 rs355056 G C 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.09784,C/0.9022;Gene=SSUH2/NM_001256748.1/0;CC=c.767+245C>G;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.548+245C>G;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.701+245C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:5:0:0:7:215:24.83:18.98:5.85:1.00:1.00:1.00:60:46.1:0:0:85:63:28:NM_001256748.1(SSUH2) c.767+245C>G,NM_001256748.1(SSUH2) c.767+245C>G:0.89,0.89:NOT_FOUND,NOT_FOUND 3 8667735 rs355057 C A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6492,A/0.3508;Gene=SSUH2/NM_001256748.1/0;CC=c.767+180G>T;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.548+180G>T;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.701+180G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,C:7:7:0:0:3,4:78,138:7.14,0.00:7.14,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:65.7,17.0:0,0:0,0:35,49:116,101:35,30:NM_001256748.1(SSUH2) c.767+180G>T,-:0.34,-:NOT_FOUND,- 3 8667896 rs355058 T C 151 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1891,C/0.8109;Gene=SSUH2/NM_001256748.1/0;CC=c.767+19A>G;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.548+19A>G;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.701+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:C:40:32:0:0:40:1320:151.03:95.54:55.49:1.00:1.00:1.00:60:39.7:0:0:27:123:15:NM_001256748.1(SSUH2) c.767+19A>G,NM_001256748.1(SSUH2) c.767+19A>G:0.82,0.82:0.7495,0.7495 3 8668008 . C . . NT END=8669383;NT GT ./. 3 8668223 rs58662232 GC G 21 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GC/0.1186,G/0.8814;DB;DBA=NA;PAF=GC/0.1186,G/0.8814;NP=3;Gene=SSUH2/NM_001256748.1/0;CC=c.675-217delG;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.456-217delG;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.609-217delG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:GC,G:8:0:0:7:2,6:67,236:0.00,21.05:0.00,0.00:0.00,21.05:0.00,0.99:0.00,0.00:0.00,0.99:60,60:7.0,16.8:0,1:0,0:143,66:6,84:4,9:-,NM_001256748.1(SSUH2) c.675-217delG:-,NOT_FOUND:-,NOT_FOUND 3 8669361 rs1533001 C A 91 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.5399,A/0.4601;Gene=SSUH2/NM_001256748.1/0;CC=c.674+23G>T;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.455+23G>T;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.608+23G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:67:61:0:0:30,37:967,1216:91.05,0.00:70.01,0.00:21.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,5.1:0,0:0,0:43,56:106,86:24,24:NM_001256748.1(SSUH2) c.674+23G>T,-:0.48,-:0.400969,- 3 8669367 rs5846608 TG T 246 nt VT=DEL;SST=Single;DP=70;DB;DBA=NA;PAF=TG/0.1556,T/0.8444;DB;DBA=NA;PAF=TG/0.1556,T/0.8444;NP=3193;Gene=SSUH2/NM_001256748.1/0;CC=c.674+16delC;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.455+16delC;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.608+16delC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:TG,T:70:64:0:70:2,68:65,2178:0.00,246.28:0.00,165.04:0.00,81.24:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.5,16.4:1,0:0,0:77,50:74,95:70,28:NM_001256748.1(SSUH2) c.674+16delC,NM_001256748.1(SSUH2) c.674+16delC:0.86,0.86:NOT_FOUND,NOT_FOUND 3 8669470 . C . . NT END=8671349;NT GT ./. 3 8669615 rs355055 G C 82 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1436,C/0.8564;Gene=SSUH2/NM_001256748.1/0;CC=c.589-146C>G;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.370-146C>G;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.523-146C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A,C:23:1:0:0:1,22:8,715:0.22,81.54:0.00,3.66:0.22,77.88:0.00,1.00:0.00,0.97:0.00,1.00:60,60:126.0,53.9:0,0:0,0:85,92:66,59:0,30:NM_001256748.1(SSUH2) c.589-146C>G,NM_001256748.1(SSUH2) c.589-146C>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 8671319 rs570096071 C CTGACTCACCAGTGGTTCACAGA 33 nt VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=SSUH2/NM_001256748.1/0;CC=c.588+30_588+31insTCTGTGAACCACTGGTGAGTCA;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.369+30_369+31insTCTGTGAACCACTGGTGAGTCA;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.522+30_522+31insTCTGTGAACCACTGGTGAGTCA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CTGACTCACCAGTGGTTCACAGA:66:55:12:0:2,52,12:64,1769,403:3.63,0.00,32.62:1.71,0.00,23.45:1.92,0.00,9.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:32.0,3.6,2.4:0,1,0:0,0,0:0,64,53:151,87,97:0,31,6:-,NM_001256748.1(SSUH2) c.588+30_588+31insTCTGTGAACCACTGGTGAGTCA:-,NOT_FOUND:-,NOT_FOUND 3 8671413 . C . . NT END=8672490;NT GT ./. 3 8672616 . C . . NT END=8673734;NT GT ./. 3 8673796 . C . . NT END=8675351;NT GT ./. 3 8675539 rs2276800 G A 148 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=G/0.6663,A/0.3337,T/.;Gene=SSUH2/NM_001256748.1/0;CC=c.210-58C>T;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.-10-58C>T;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.86C>T;ProtCh=p.P29L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:126:94:0:0:48,78:1610,2423:147.54,0.00:99.78,0.00:47.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,8.7:0,0:0,0:77,77:69,71:35,31:NM_001256748.1(SSUH2) c.210-58C>T,-:0.29,-:0.318545,- 3 8675628 . C . . NT END=8676083;NT GT ./. 3 8675778 rs11131140 T C 111 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.2216,C/0.7784;Gene=SSUH2/NM_001256748.1/0;CC=c.210-297A>G;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.-10-297A>G;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.-3-151A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:A,C,G:33:1:0:0:1,31,1:10,968,11:0.25,110.65,0.30:0.00,3.75,0.00:0.25,106.90,0.30:0.00,1.00,0.00:0.00,0.96,0.00:0.00,1.00,0.00:60,60,60:193.0,54.1,231.0:0,0,0:0,0,0:28,107,139:123,44,10:0,29,0:NM_001256748.1(SSUH2) c.210-297A>G,NM_001256748.1(SSUH2) c.210-297A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 3 8676204 rs3774210 A G 267 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.1126,G/0.8874;Gene=SSUH2/NM_001256748.1/0;CC=c.210-723T>C;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.-10-723T>C;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.-3-577T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:71:52:0:0:71:2331:266.83:151.92:114.91:1.00:1.00:1.00:60:41.0:0:0:67:84:34:NM_001256748.1(SSUH2) c.210-723T>C,NM_001256748.1(SSUH2) c.210-723T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 3 8676332 . C . . NT END=8676985;NT GT ./. 3 8676945 rs3816911 T C 138 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.3101,C/0.6899;Gene=SSUH2/NM_001256748.1/0;CC=c.209+41A>G;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.-11+41A>G;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.-4+41A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:C:36:34:0:0:36:1211:138.27:103.27:34.99:1.00:1.00:1.00:60:42.1:0:0:47:86:32:NM_001256748.1(SSUH2) c.209+41A>G,NM_001256748.1(SSUH2) c.209+41A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 3 8677068 . C . . NT END=8677444;NT GT ./. 3 8677544 . C . . NT END=8681633;NT GT ./. 3 8681756 . c . . NT END=8686416;NT GT ./. 3 8686191 rs164959 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6184,T/0.3816;Gene=SSUH2/NM_001256748.1/0;CC=c.28+226G>A;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.-192+7485G>A;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.-185+7485G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,T:10:10:0:0:5,5:161,145:0.00,13.87:0.00,13.87:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:0.0,58.2:0,0:0,0:62,31:87,119:24,21:-,NM_001256748.1(SSUH2) c.28+226G>A:-,0.34:-,NOT_FOUND 3 8686202 rs164960 A C 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.864,C/0.136;PC=0.777;Gene=SSUH2/NM_001256748.1/0;CC=c.28+215T>G;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.-192+7474T>G;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.-185+7474T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:A,C:10:10:0:0:5,5:169,141:0.00,13.45:0.00,13.45:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:0.0,58.2:0,0:0,0:73,42:76,108:24,21:-,NM_001256748.1(SSUH2) c.28+215T>G:-,0.12:-,NOT_FOUND 3 8686368 rs241051 T C 49 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.9042,C/0.09585;PC=0.001;Gene=SSUH2/NM_001256748.1/0;CC=c.28+49A>G;VC=Intron;Gene=SSUH2/NR_046358.1/0;VC=NonCoding;Gene=SSUH2/NM_001256749.1/1;CC=c.-192+7308A>G;VC=Intron;Gene=SSUH2/NM_015931.2/0;CC=c.-185+7308A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:38:0:0:17,29:542,918:49.15,0.00:30.23,0.00:18.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,7.7:0,0:0,0:33,39:111,112:21,27:NM_001256748.1(SSUH2) c.28+49A>G,-:0.09,-:NOT_FOUND,- 3 8686445 . G . . NT END=8775562;NT GT ./. 3 8720620 rs4266180 A C 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:132:15.11:9.39:5.72:1.00:1.00:1.00:60:94.5:0:0:90:16:19:chr3 g.8720619A>C (intergenic),chr3 g.8720619A>C (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 3 8721331 rs114667487 T C 41 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.9601,C/0.03994;PC=0.230 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C,T:13:10:0:0:12,1:367,10:41.02,0.00:23.62,0.00:17.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.6,54.0:0,0:0,0:62,77:79,41:13,0:chr3 g.8721330T>C (intergenic),chr3 g.8721330T>C (intergenic):0.05,0.05:NOT_FOUND,NOT_FOUND 3 8721332 rs115556196 G C 38 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9601,C/0.03994;PC=0.257 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:C,G:12:9:0:0:11,1:347,30:38.45,0.00:21.58,0.00:16.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:80.5,54.0:0,0:0,0:71,78:75,40:12,0:chr3 g.8721331G>C (intergenic),-:0.05,-:NOT_FOUND,- 3 8723491 rs2679579 A C 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.232,C/0.768 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:14:0:0:7,12:214,354:0.00,35.68:0.00,24.41:0.00,11.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,42.4:0,0:0,0:52,42:93,106:21,13:-,chr3 g.8723490A>C (intergenic):-,0.75:-,NOT_FOUND 3 8729740 rs350812 A G 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2923,G/0.7077 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:A,G:8:8:0:0:5,3:165,73:0.00,6.42:0.00,6.42:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:2.6,46.0:0,0:0,0:30,73:121,77:21,9:-,chr3 g.8729739A>G (intergenic):-,0.69:-,NOT_FOUND 3 8729891 rs115069785 A G 42 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.9766,G/0.02336;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:34:0:0:20,14:591,451:0.00,41.80:0.00,40.46:0.00,1.34:0.00,1.00:0.00,1.00:0.00,0.92:60,60:25.5,56.7:0,0:0,0:46,54:104,96:23,35:-,chr3 g.8729890A>G (intergenic):-,0.03:-,NOT_FOUND 3 8729981 rs350813 G A 104 nt VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.2766,A/0.7234;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:56:0:0:36,32:1073,1055:103.98,0.00:68.63,0.00:35.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,18.3:0,0:0,0:73,39:70,106:31,23:chr3 g.8729980G>A (intergenic),-:0.68,-:NOT_FOUND,- 3 8730260 rs6770204 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.633,A/0.367 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:12:0:0:9,20:267,658:23.19,0.00:5.95,0.00:17.24,0.00:0.99,0.00:0.97,0.00:1.00,0.00:60,60:53.1,0.5:0,0:0,0:100,77:50,70:13,32:chr3 g.8730259G>A (intergenic),-:0.35,-:NOT_FOUND,- 3 8775379 rs2072582 G T 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7602,T/0.2398;PC=0.985 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:141:16.48:16.48:0.00:1.00:1.00:0.00:60:50.0:0:0:15:134:12:NM_033337.2(CAV3) c.-77-u107G>T,NM_033337.2(CAV3) c.-77-u107G>T:0.22,0.22:NOT_FOUND,NOT_FOUND 3 8775589 rs1974763 C T 66 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=in-clinvar;PAF=C/0.9575,T/0.04253;PC=0.995;Gene=CAV3/NM_001234.4/0;CC=c.27C>T;ProtCh=p.L9=;VC=Silent;Gene=CAV3/NM_033337.2/1;CC=c.27C>T;ProtCh=p.L9=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:32:0:0:20,21:633,679:0.00,65.58:0.00,41.41:0.00,24.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,50.6:0,0:0,0:81,62:66,85:24,20:-,NM_033337.2(CAV3) c.27C>T (p.(=)):-,0.06:-,0.091496 3 8775677 . G . . NT END=8787211;NT GT ./. 3 8775831 rs1558990 C A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9519,A/0.04812;Gene=CAV3/NM_001234.4/0;CC=c.114+155C>A;VC=Intron;Gene=CAV3/NM_033337.2/1;CC=c.114+155C>A;VC=Intron;DM=CAV3/Caveolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C:4:0:0:0:3,1:75,29:7.93,0.00:0.00,0.00:7.93,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:70.0,69.0:0,0:0,0:69,72:82,79:44,0:NM_033337.2(CAV3) c.114+155C>A,-:0.07,-:NOT_FOUND,- 3 8775847 rs1558991 C G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9018,G/0.09824;Gene=CAV3/NM_001234.4/0;CC=c.114+171C>G;VC=Intron;Gene=CAV3/NM_033337.2/1;CC=c.114+171C>G;VC=Intron;DM=CAV3/Caveolin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,G:4:0:0:0:1,3:29,87:0.00,9.15:0.00,0.00:0.00,9.15:0.00,0.85:0.00,0.00:0.00,0.85:60,60:69.0,70.0:0,0:0,0:88,85:63,66:0,44:-,NM_033337.2(CAV3) c.114+171C>G:-,0.12:-,NOT_FOUND 3 8787554 . A . . NT END=8794662;NT GT ./. 3 8794545 rs1042778 G T 86 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.5891,C/.,T/0.4109;Gene=OXTR/NM_000916.3/1;CC=c.*118C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A,T:29:29:0:0:1,28:10,737:0.28,86.43:0.28,83.01:0.00,3.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,32.3:0,0:0,0:94,44:55,107:0,26:NM_000916.3(OXTR) c.*118C>A,NM_000916.3(OXTR) c.*118C>A:0.37,0.37:NOT_FOUND,NOT_FOUND 3 8794911 . C . . NT END=8808951;NT GT ./. 3 8808696 rs237900 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6927,A/0.3073;Gene=OXTR/NM_000916.3/1;CC=c.922+256C>T;VC=Intron;DM=OXTR/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:A,G:8:8:0:0:4,4:94,110:8.89,0.00:8.89,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:56.2,19.0:0,0:0,0:61,67:89,83:61,6:NM_000916.3(OXTR) c.922+256C>T,-:0.29,-:NOT_FOUND,- 3 8809184 rs237902 G A 351 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=216;DB;DBA=NA;PAF=G/0.7524,A/0.2476;PC=0.965;Gene=OXTR/NM_000916.3/1;CC=c.690C>T;ProtCh=p.N230=;VC=Silent;DM=OXTR/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:216:129:0:0:114,1,101:3612,12,3324:350.98,-0.13,0.00:154.18,-0.10,0.00:196.81,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.4,23.0,7.4:0,0,0:0,0,0:96,24,94:55,127,57:29,0,33:NM_000916.3(OXTR) c.690C>T (p.(=)),-:0.24,-:0.329306,- 3 8809703 rs2228485 G A 718 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=192;DB;DBA=NA;PAF=G/0.2821,A/0.7179;PC=1.000;Gene=OXTR/NM_000916.3/1;CC=c.171C>T;ProtCh=p.N57=;VC=Silent;DM=OXTR/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:192:129:0:0:192:6271:718.41:371.36:347.04:1.00:1.00:1.00:60:42.1:0:0:77:66:37:NM_000916.3(OXTR) c.171C>T (p.(=)),NM_000916.3(OXTR) c.171C>T (p.(=)):0.68,0.68:0.721006,0.721006 3 8809874 . G . . NT END=8923040;NT GT ./. 3 8810008 rs237911 G A 326 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.1396,A/0.8604;Gene=OXTR/NM_000916.3/1;CC=c.-135C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:87:37:0:0:87:2849:326.27:89.13:237.14:1.00:1.00:1.00:60:52.7:0:0:101:42:24:NM_000916.3(OXTR) c.-135C>T,NM_000916.3(OXTR) c.-135C>T:0.85,0.85:NOT_FOUND,NOT_FOUND 3 8810050 rs237913 C A 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.8431,A/0.1569;Gene=OXTR/NM_000916.3/1;CC=c.-142-35G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:51:13:0:0:23,28:689,779:64.62,0.00:17.41,0.00:47.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:84.4,41.3:0,0:0,0:119,112:31,38:24,23:NM_000916.3(OXTR) c.-142-35G>T,-:0.15,-:NOT_FOUND,- 3 8840659 rs372160470 CGT C 11 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;PC=0.050;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CGT,C:6:5:0:4:2,4:66,110:0.00,11.23:0.00,6.39:0.00,4.84:0.00,0.93:0.00,0.99:0.00,0.99:60,60:0.0,20.0:0,0:0,0:82,90:68,60:47,4:-,chr3 g.8840660_8840661delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 8923144 . C . . NT END=8932072;NT GT ./. 3 8931984 rs656626 A C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1677,C/0.8323;Gene=RAD18/NM_020165.3/1;CC=c.1385+89T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,C:8:8:0:0:4,4:132,135:0.00,13.00:0.00,13.00:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:0.0,33.8:0,0:0,0:119,37:31,113:19,14:-,NM_020165.3(RAD18) c.1385+89T>G:-,0.8:-,NOT_FOUND 3 8932136 . C . . NT END=8940577;NT GT ./. 3 8932189 rs607531 C T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4774,T/0.5226;Gene=RAD18/NM_020165.3/1;CC=c.1323-54G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,T:9:5:0:0:4,5:139,165:0.00,16.20:0.00,5.08:0.00,11.12:0.00,0.96:0.00,0.98:0.00,0.96:60,60:3.0,33.0:0,0:0,0:119,114:19,36:11,21:-,NM_020165.3(RAD18) c.1323-54G>A:-,0.52:-,0.598598 3 8940732 . C . . NT END=8944063;NT GT ./. 3 8943988 rs464302 C A 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.513,A/0.487;Gene=RAD18/NM_020165.3/1;CC=c.1168+76G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:25:25:0:0:11,13,1:348,445,11:32.85,0.00,0.14:33.10,0.00,0.16:-0.25,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:0.74,0.00,0.00:60,60,60:41.1,10.2,66.0:0,0,0:0,0,0:63,38,77:86,113,74:33,21,0:NM_020165.3(RAD18) c.1168+76G>T,-:0.49,-:NOT_FOUND,- 3 8944205 . C . . NT END=8953995;NT GT ./. 3 8954057 . C . . NT END=8955327;NT GT ./. 3 8955389 rs373572 C T 17 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3524,T/0.6476;PC=1.000;Gene=RAD18/NM_020165.3/1;CC=c.905G>A;ProtCh=p.R302Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:C,T:14:9:0:0:8,6:268,179:0.00,16.57:0.00,5.06:0.00,11.51:0.00,0.96:0.00,0.99:0.00,0.99:60,60:9.5,41.0:0,0:0,0:75,68:51,82:27,35:-,NM_020165.3(RAD18) c.905G>A (p.Arg302Gln):-,0.63:-,0.70428 3 8955405 . C . . NT END=8977554;NT GT ./. 3 8977740 . C . . NT END=8981237;NT GT ./. 3 8981338 . C . . NT END=8983150;NT GT ./. 3 8983489 . C . . NT END=8988903;NT GT ./. 3 8988809 rs689296 C T 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.507,T/0.493;Gene=RAD18/NM_020165.3/1;CC=c.266+95G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:10:10:0:0:3,7:100,230:0.00,23.69:0.00,23.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,32.9:0,0:0,0:66,32:85,119:25,21:-,NM_020165.3(RAD18) c.266+95G>A:-,0.5:-,NOT_FOUND 3 8988975 . C . . NT END=8990192;NT GT ./. 3 8990255 . C . . NT END=9000603;NT GT ./. 3 9000686 . C . . NT END=9005018;NT GT ./. 3 9005070 . G . . NT END=9027202;NT GT ./. 3 9005078 rs615967 C T 64 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.4024,T/0.5976;Gene=RAD18/NM_020165.3/1;CC=c.-9G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:22:0:0:19,21:571,661:0.00,64.10:0.00,17.58:0.00,46.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.3,45.0:0,0:0,0:66,103:65,48:25,30:-,NM_020165.3(RAD18) c.-9G>A:-,0.58:-,0.662177 3 9027617 . C . . NT END=9032195;NT GT ./. 3 9032524 . C . . NT END=9034589;NT GT ./. 3 9034558 rs511815 C T 145 nt VT=SNV;PN=C;NN=A;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.3452,T/0.6548;Gene=SRGAP3/NM_001033117.2/0;CC=c.2486+32G>A;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.2558+32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:112:98:0:0:1,63,1,47:12,2040,5,1555:-0.10,0.00,-0.23,145.32:-0.18,0.00,-0.16,106.72:0.08,0.00,-0.06,38.60:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:58.0,10.8,70.0,44.4:0,0,0,0:0,0,0,0:2,38,21,41:149,109,130,107:0,20,0,22:-,NM_014850.3(SRGAP3) c.2558+32G>A:-,0.61:-,0.675765 3 9034740 . C . . NT END=9036026;NT GT ./. 3 9036010 rs637172 T G 163 nt VT=SNV;PN=A;NN=T;SST=Single;DP=106;DB;DBA=NA;PAF=T/0.4167,C/.,G/0.5833;Gene=SRGAP3/NM_001033117.2/0;CC=c.2336+17A>C;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.2408+17A>C;VC=Intron;DM=SRGAP3/SH3_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:106:97:0:0:52,54:1700,1758:162.88,0.00:113.60,0.00:49.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.8,10.9:0,0:0,0:38,42:109,103:26,21:NM_014850.3(SRGAP3) c.2408+17A>C,-:0.54,-:0.597647,- 3 9036208 . C . . NT END=9051991;NT GT ./. 3 9051790 rs341787 G C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;PC=0.318;Gene=SRGAP3/NM_001033117.2/0;CC=c.2155+202C>G;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.2227+202C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,G:9:9:0:0:3,6:97,200:8.64,0.00:8.64,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:60,60:43.3,3.3:0,0:0,0:48,34:103,117:35,6:NM_014850.3(SRGAP3) c.2227+202C>G,-:0.41,-:NOT_FOUND,- 3 9052072 . C . . NT END=9054991;NT GT ./. 3 9055220 . C . . NT END=9055420;NT GT ./. 3 9055293 rs35295033 G T 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.874,T/0.126;Gene=SRGAP3/NM_001033117.2/0;CC=c.1848-74C>A;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1920-74C>A;VC=Intron;DM=SRGAP3/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:31:17:0:0:18,13:527,407:0.00,37.78:0.00,11.94:0.00,25.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.8,36.3:0,0:0,0:101,108:49,43:42,22:-,NM_014850.3(SRGAP3) c.1920-74C>A:-,0.14:-,NOT_FOUND 3 9055527 . C . . NT END=9057280;NT GT ./. 3 9057416 . C . . NT END=9066944;NT GT ./. 3 9066853 rs421041 T C 86 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.2163,C/0.7837;Gene=SRGAP3/NM_001033117.2/0;CC=c.1606+92A>G;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1678+92A>G;VC=Intron;DM=SRGAP3/RhoGAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:C:25:23:0:0:25:745:86.33:75.20:11.13:1.00:1.00:1.00:60:35.5:0:0:41:110:22:NM_014850.3(SRGAP3) c.1678+92A>G,NM_014850.3(SRGAP3) c.1678+92A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 3 9067023 . C . . NT END=9068618;NT GT ./. 3 9068577 rs1703128 T C 75 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.757,C/0.243;Gene=SRGAP3/NM_001033117.2/0;CC=c.1528+42A>G;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1600+42A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:38:0:0:23,20:767,636:74.75,0.00:56.07,0.00:18.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,5.8:0,0:0,0:26,34:121,115:15,17:NM_014850.3(SRGAP3) c.1600+42A>G,-:0.23,-:0.193065,- 3 9068680 . C . . NT END=9069783;NT GT ./. 3 9068858 rs1703127 A G 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8005,G/0.1995;PC=0.036;Gene=SRGAP3/NM_001033117.2/0;CC=c.1468-179T>C;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1540-179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:7:0:0:0:3,4:98,139:0.00,13.73:0.00,0.00:0.00,13.73:0.00,0.90:0.00,0.00:0.00,0.90:60,60:0.0,34.8:0,0:0,0:36,103:113,48:13,35:-,NM_014850.3(SRGAP3) c.1540-179T>C:-,0.19:-,NOT_FOUND 3 9069747 rs416685 A G 155 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.1657,G/0.8343;Gene=SRGAP3/NM_001033117.2/0;CC=c.1467+37T>C;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1540-1068T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:34:0:0:43:1351:155.49:86.68:68.81:1.00:1.00:1.00:60:44.3:0:0:51:94:30:NM_014850.3(SRGAP3) c.1540-1068T>C,NM_014850.3(SRGAP3) c.1540-1068T>C:0.79,0.79:0.821006,0.821006 3 9069815 . C . . NT END=9074333;NT GT ./. 3 9069873 rs10510396 A G 82 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.8145,G/0.1855;PC=1.000;Gene=SRGAP3/NM_001033117.2/0;CC=c.1437-59T>C;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1540-1194T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:20:0:0:17,24:511,826:0.00,82.00:0.00,30.00:0.00,52.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.5,44.6:0,0:0,0:107,104:35,43:24,10:-,NM_014850.3(SRGAP3) c.1540-1194T>C:-,0.19:-,0.227551 3 9069918 rs504153 C T 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.856,T/0.144;PC=0.991;Gene=SRGAP3/NM_001033117.2/0;CC=c.1437-104G>A;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1540-1239G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:7:0:0:17,11:522,364:0.00,33.50:0.00,6.19:0.00,27.31:0.00,1.00:0.00,0.96:0.00,1.00:60,60:40.6,39.5:0,0:0,0:122,120:25,31:21,23:-,NM_014850.3(SRGAP3) c.1540-1239G>A:-,0.14:-,NOT_FOUND 3 9074437 . C . . NT END=9079746;NT GT ./. 3 9074617 rs9839715 C T 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5445,T/0.4555;PC=0.051;Gene=SRGAP3/NM_001033117.2/0;CC=c.1437-4803G>A;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1437-181G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,T:7:0:0:0:4,3:131,102:0.00,9.56:0.00,0.00:0.00,9.56:0.00,0.69:0.00,0.00:0.00,0.69:60,60:13.0,45.0:0,0:0,0:131,84:20,67:1,21:-,NM_014850.3(SRGAP3) c.1437-181G>A:-,0.48:-,NOT_FOUND 3 9074687 rs9876330 G A 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5447,A/0.4553;Gene=SRGAP3/NM_001033117.2/0;CC=c.1437-4873C>T;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1437-251C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:0:0:0:3,1:70,35:7.44,0.00:0.00,0.00:7.44,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:41.7,0.0:0,0:0,0:18,87:132,63:8,0:NM_014850.3(SRGAP3) c.1437-251C>T,-:0.48,-:NOT_FOUND,- 3 9079775 . C . . NT END=9089074;NT GT ./. 3 9089160 . C . . NT END=9094710;NT GT ./. 3 9089254 rs2244864 C G 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.2192,G/0.7808;Gene=SRGAP3/NM_001033117.2/0;CC=c.1324-95G>C;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1324-95G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:6:0:0:24:804:91.82:13.62:78.21:1.00:1.00:1.00:60:41.2:0:0:99:51:41:NM_014850.3(SRGAP3) c.1324-95G>C,NM_014850.3(SRGAP3) c.1324-95G>C:0.75,0.75:NOT_FOUND,NOT_FOUND 3 9089384 rs1622607 C A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6194,A/0.3806;Gene=SRGAP3/NM_001033117.2/0;CC=c.1324-225G>T;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.1324-225G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:110:12.90:0.00:12.90:1.00:0.00:1.00:60:54.5:0:0:79:71:38:NM_014850.3(SRGAP3) c.1324-225G>T,NM_014850.3(SRGAP3) c.1324-225G>T:0.37,0.37:NOT_FOUND,NOT_FOUND 3 9094909 . C . . NT END=9097916;NT GT ./. 3 9098019 . C . . NT END=9099934;NT GT ./. 3 9100157 . C . . NT END=9101914;NT GT ./. 3 9101668 rs6443219 A G 28 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2522,G/0.7478;Gene=SRGAP3/NM_001033117.2/0;CC=c.801+247T>C;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.801+247T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:239:27.71:27.71:0.00:1.00:1.00:0.00:60:46.8:0:0:52:99:31:NM_014850.3(SRGAP3) c.801+247T>C,NM_014850.3(SRGAP3) c.801+247T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 3 9102044 . C . . NT END=9106079;NT GT ./. 3 9102112 rs59248524 C CTTT 21 idl,nt VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=3;Gene=SRGAP3/NM_001033117.2/0;CC=c.673-70_673-69insAAA;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.673-70_673-69insAAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTTT,D:45:24:20:4:34,1,9,1:1086,32,593,97:0.00,1.66,21.23,1.46:0.00,-0.08,7.10,-0.08:0.00,1.74,14.13,1.54:0.00,0.00,0.98,0.00:0.00,0.00,0.95,0.00:0.00,0.00,1.00,0.00:60,60,70,60:14.4,188.0,143.8,163.0:0,1,11,2:0,0,0,0:129,28,84,93:15,121,64,57:18,0,26,6:-,NM_014850.3(SRGAP3) c.673-70_673-69insAAA:-,NOT_FOUND:-,NOT_FOUND 3 9102137 rs6775479 G C 147 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.4133,C/0.5867;PC=0.002;Gene=SRGAP3/NM_001033117.2/0;CC=c.673-94C>G;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.673-94C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A,C:40:2:0:0:1,39:33,1291:2.18,147.19:1.09,1.68:1.09,145.51:0.00,1.00:0.00,1.00:0.00,1.00:60,70:68.0,64.5:0,0:0,0:122,80:16,65:0,37:NM_014850.3(SRGAP3) c.673-94C>G,NM_014850.3(SRGAP3) c.673-94C>G:0.59,0.59:NOT_FOUND,NOT_FOUND 3 9106266 . C . . NT END=9121708;NT GT ./. 3 9106452 rs9811294 G C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8496,C/0.1504;Gene=SRGAP3/NM_001033117.2/0;CC=c.487-187C>G;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.487-187C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,G:7:0:0:0:4,3:117,93:11.53,0.00:0.00,0.00:11.53,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:40.0,0.0:0,0:0,0:102,135:48,16:37,14:NM_014850.3(SRGAP3) c.487-187C>G,-:0.13,-:NOT_FOUND,- 3 9121772 . C . . NT END=9146363;NT GT ./. 3 9146527 . C . . NT END=9166408;NT GT ./. 3 9166602 . C . . NT END=9290568;NT GT ./. 3 9225451 rs62971361 AACAC A 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=192;PC=0.001;Gene=SRGAP3/NM_001033117.2/0;CC=c.68-58854_68-58851delGTGT;VC=Intron;Gene=SRGAP3/NM_014850.3/1;CC=c.68-58854_68-58851delGTGT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:4:3:111:9.14:2.89:6.24:0.85:0.85:0.85:60:76.3:1:0:77:74:3:NM_014850.3(SRGAP3) c.68-58854_68-58851delGTGT,NM_014850.3(SRGAP3) c.68-58854_68-58851delGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 9290636 . C . . NT END=9406752;NT GT ./. 3 9333286 rs71049786 CCA C 12 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CCA/0.1765,C/0.8235;DB;DBA=NA;PAF=CCA/0.1765,C/0.8235;NP=211;PC=0.002;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:6:4:172:11.69:3.65:8.04:0.93:0.99:0.99:60:21.8:2:0:47:103:11:chr3 g.9333287_9333288delCA (intergenic),chr3 g.9333287_9333288delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 9390312 rs6809957 T C 59 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7588,C/0.2412;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:C,T:21:20:0:0:17,4:553,129:58.94,0.00:46.05,0.00:12.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,34.8:0,0:0,0:72,30:77,120:28,8:chr3 g.9390311T>C (intergenic),-:0.25,-:NOT_FOUND,- 3 9390345 rs2728938 T C 24 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5098,C/0.4902;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:23:0:0:8,18:275,595:24.35,0.00:23.49,0.00:0.86,0.00:0.98,0.00:1.00,0.00:0.94,0.00:60,60:34.4,30.3:0,0:0,0:41,72:107,77:18,34:chr3 g.9390344T>C (intergenic),-:0.47,-:NOT_FOUND,- 3 9406661 rs2728949 G A 71 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.3844,A/0.6156;Gene=THUMPD3/NM_001114092.1/0;CC=c.-53-39G>A;VC=Intron;Gene=THUMPD3/NM_015453.2/1;CC=c.-53-39G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:41:39:0:0:22,18,1:728,518,9:71.38,0.00,-0.02:52.96,0.00,0.02:18.42,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.2,37.8,50.0:0,0,0:0,0,0:43,57,16:108,94,134:31,20,0:NM_015453.2(THUMPD3) c.-53-39G>A,-:0.57,-:NOT_FOUND,- 3 9406704 rs11547584 G A 124 nt VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.9429,A/0.05711;PC=0.433;Gene=THUMPD3/NM_001114092.1/0;CC=c.-49G>A;VC=5UTR;Gene=THUMPD3/NM_015453.2/1;CC=c.-49G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:89:82:0:0:41,48:1316,1610:124.46,0.00:104.85,0.00:19.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,26.1:0,0:0,0:34,32:101,103:21,24:NM_015453.2(THUMPD3) c.-49G>A,-:0.08,-:0.140397,- 3 9406836 rs1054975 T C 228 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.3808,C/0.6192;PC=1.000;Gene=THUMPD3/NM_001114092.1/0;CC=c.84T>C;ProtCh=p.S28=;VC=Silent;Gene=THUMPD3/NM_015453.2/1;CC=c.84T>C;ProtCh=p.S28=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:149:120:0:0:73,76:2381,2400:228.14,0.00:138.17,0.00:89.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,10.4:0,0:0,0:86,55:65,92:44,30:NM_015453.2(THUMPD3) c.84T>C (p.(=)),-:0.57,-:0.59042,- 3 9407005 . G . . NT END=9408591;NT GT ./. 3 9407022 rs2648536 T C 105 nt VT=SNV;PN=A;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.369,C/0.631;PC=0.403;Gene=THUMPD3/NM_001114092.1/0;CC=c.252+18T>C;VC=Intron;Gene=THUMPD3/NM_015453.2/1;CC=c.252+18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:78:25:0:0:34,44:1116,1387:104.62,0.00:28.73,0.00:75.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,8.4:0,0:0,0:101,107:49,42:35,19:NM_015453.2(THUMPD3) c.252+18T>C,-:0.59,-:0.597263,- 3 9408443 rs2648535 A C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.3806,C/0.6194;Gene=THUMPD3/NM_001114092.1/0;CC=c.253-149A>C;VC=Intron;Gene=THUMPD3/NM_015453.2/1;CC=c.253-149A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,C:13:13:0:0:8,5:249,143:0.00,12.90:0.00,12.90:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:8.9,30.6:0,0:0,0:78,94:72,56:44,17:-,NM_015453.2(THUMPD3) c.253-149A>C:-,0.57:-,NOT_FOUND 3 9408670 . G . . NT END=9412743;NT GT ./. 3 9413221 . G . . NT END=9416199;NT GT ./. 3 9416331 . G . . NT END=9419502;NT GT ./. 3 9419573 . G . . NT END=9422186;NT GT ./. 3 9422210 rs2596916 T C 71 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.3828,C/0.6172;PC=1.000;Gene=THUMPD3/NM_001114092.1/0;CC=c.1032T>C;ProtCh=p.C344=;VC=Silent;Gene=THUMPD3/NM_015453.2/1;CC=c.1032T>C;ProtCh=p.C344=;VC=Silent;DM=THUMPD3/UPF0020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:57:44:0:0:24,33:768,1090:71.36,0.00:46.67,0.00:24.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,3.2:0,0:0,0:63,60:82,80:24,32:NM_015453.2(THUMPD3) c.1032T>C (p.(=)),-:0.57,-:0.589343,- 3 9422303 . G . . NT END=9424882;NT GT ./. 3 9424994 . G . . NT END=9425895;NT GT ./. 3 9425743 rs2600193 A G 94 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.1901,G/0.8099;Gene=THUMPD3/NM_001114092.1/0;CC=c.1236-153A>G;VC=Intron;Gene=THUMPD3/NM_015453.2/1;CC=c.1236-153A>G;VC=Intron;DM=THUMPD3/UPF0020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:G:25:24:0:0:25:817:93.60:89.52:4.08:1.00:1.00:1.00:60:40.4:0:0:48:103:23:NM_015453.2(THUMPD3) c.1236-153A>G,NM_015453.2(THUMPD3) c.1236-153A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 9425911 rs1129170 G A 141 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.3956,A/0.6044;PC=1.000;Gene=THUMPD3/NM_001114092.1/0;CC=c.1251G>A;ProtCh=p.K417=;VC=Silent;Gene=THUMPD3/NM_015453.2/1;CC=c.1251G>A;ProtCh=p.K417=;VC=Silent;DM=THUMPD3/UPF0020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:64:0:0:45,37:1440,1263:140.93,0.00:92.52,0.00:48.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,3.1:0,0:0,0:49,69:101,81:30,26:NM_015453.2(THUMPD3) c.1251G>A (p.(=)),-:0.57,-:0.576888,- 3 9426020 . G . . NT END=9426207;NT GT ./. 3 9426373 . A . . NT END=9470622;NT GT ./. 3 9439335 rs368632604 TGCC T 49 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=TGCC/0.2173,T/0.7827;NP=28;PC=0.829;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:TGCC,T:16:11:0:16:1,15:34,473:0.00,49.20:0.00,28.28:0.00,20.92:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,29.5:0,1:0,0:123,53:28,98:0,31:NM_001080517.1(SETD5) c.-435-u67_-435-u65delGCC,NM_001080517.1(SETD5) c.-435-u67_-435-u65delGCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 9455333 rs200761097 GGT G,GGGTGTGTGT 10 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=62;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:27:GGGTGTGTGT,G:4:5:4:1:3,1:121,33:10.36,3.08:8.64,3.08:1.73,0.00:0.78,0.00:0.78,0.00:0.73,0.00:70,60:62.3,0.0:1,0:0,0:21,43:130,107:6,0:NM_001080517.1(SETD5) c.-176-10817_-176-10816delGT,NM_001080517.1(SETD5) c.-176-10817_-176-10816insGTGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 9470694 . G . . NT END=9471510;NT GT ./. 3 9473439 . G . . NT END=9473937;NT GT ./. 3 9474009 . G . . NT END=9475053;NT GT ./. 3 9475248 . T . . NT END=9475528;NT GT ./. 3 9475636 . T . . NT END=9475728;NT GT ./. 3 9475866 . G . . NT END=9475960;NT GT ./. 3 9476171 . T . . NT END=9476273;NT GT ./. 3 9476316 . T . . NT END=9476507;NT GT ./. 3 9476568 . T . . NT END=9477411;NT GT ./. 3 9477592 . T . . NT END=9478533;NT GT ./. 3 9478573 . G . . NT END=9482139;NT GT ./. 3 9482384 . T . . NT END=9483276;NT GT ./. 3 9483427 . T . . NT END=9483811;NT GT ./. 3 9483931 . T . . NT END=9484991;NT GT ./. 3 9485103 . T . . NT END=9486731;NT GT ./. 3 9486986 . T . . NT END=9487340;NT GT ./. 3 9487426 . T . . NT END=9488733;NT GT ./. 3 9488993 . T . . NT END=9489369;NT GT ./. 3 9489692 . T . . NT END=9490071;NT GT ./. 3 9489767 rs2258735 T C 168 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.1008,C/0.8992;Gene=SETD5/NM_001080517.2/1;CC=c.2103+77T>C;VC=Intron;Gene=SETD5/NM_001292043.1/0;CC=c.1809+77T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A,C:49:13:0:0:1,48:11,1457:0.22,168.03:0.00,38.96:0.22,129.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:177.0,44.5:0,0:0,0:103,95:44,55:0,29:NM_001080517.1(SETD5) c.2103+77T>C,NM_001080517.1(SETD5) c.2103+77T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 3 9490316 . t . . NT END=9495422;NT GT ./. 3 9495385 rs2648580 A G 65 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.3624,G/0.6376,T/.;Gene=SETD5/NM_001080517.2/1;CC=c.2347-38A>G;VC=Intron;Gene=SETD5/NM_001292043.1/0;CC=c.2053-38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:42:0:0:30,22:899,699:0.00,65.03:0.00,50.01:0.00,15.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,35.8:0,0:0,0:64,60:84,87:34,37:-,NM_001080517.1(SETD5) c.2347-38A>G:-,0.63:-,0.656007 3 9495554 . T . . NT END=9506108;NT GT ./. 3 9506358 . T . . NT END=9510202;NT GT ./. 3 9510261 . T . . NT END=9512142;NT GT ./. 3 9511975 rs62246320 G A 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9593,A/0.04073;Gene=SETD5/NM_001080517.2/1;CC=c.2725-168G>A;VC=Intron;Gene=SETD5/NM_001292043.1/0;CC=c.2431-168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:7:7:0:0:4,3:129,84:12.73,0.00:12.73,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:32.2,8.3:0,0:0,0:41,77:109,74:13,37:NM_001080517.1(SETD5) c.2725-168G>A,-:0.05,-:NOT_FOUND,- 3 9512615 . T . . NT END=9514919;NT GT ./. 3 9514856 rs3915844 G A 112 nt VT=SNV;PN=T;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.7612,A/0.2388;Gene=SETD5/NM_001080517.2/1;CC=c.3196-64G>A;VC=Intron;Gene=SETD5/NM_001292043.1/0;CC=c.2902-64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:81:0:0:37,49:1194,1551:111.58,0.00:86.44,0.00:25.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,12.5:0,0:0,0:31,45:120,99:20,30:NM_001080517.1(SETD5) c.3196-64G>A,-:0.21,-:NOT_FOUND,- 3 9515223 . T . . NT END=9516132;NT GT ./. 3 9516268 . T . . NT END=9516751;NT GT ./. 3 9516842 . T . . NT END=9517166;NT GT ./. 3 9517369 rs11542009 C T 216 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=176;DB;DBA=NA;PAF=C/0.9607,G/.,T/0.03934;PC=1.000;Gene=SETD5/NM_001080517.2/1;CC=c.3923C>T;ProtCh=p.T1308I;VC=Missense;Gene=SETD5/NM_001292043.1/0;CC=c.3629C>T;ProtCh=p.T1210I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:176:120:0:0:98,78:3234,2316:0.00,216.15:0.00,94.55:0.00,121.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.2,41.3:0,0:0,0:73,76:60,72:37,43:-,NM_001080517.1(SETD5) c.3923C>T (p.Thr1308Ile):-,0.05:-,0.083541 3 9517777 . G . . NT END=9543894;NT GT ./. 3 9543996 . C . . NT END=9547650;NT GT ./. 3 9547888 . C . . NT END=9593957;NT GT ./. 3 9547950 rs2625890 G C 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.2825,C/0.7175;PC=0.001;Gene=LHFPL4/NM_198560.2/1;CC=c.407-63C>G;VC=Intron;DM=LHFPL4/L_HGMIC_fpl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:40:12:0:0:23,17:721,565:71.18,0.00:9.04,0.00:62.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.3,18.7:0,0:0,0:122,113:29,37:17,19:NM_198560.2(LHFPL4) c.407-63C>G,-:0.73,-:NOT_FOUND,- 3 9547959 rs2625889 C T 75 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.2863,T/0.7137;Gene=LHFPL4/NM_198560.2/1;CC=c.407-72G>A;VC=Intron;DM=LHFPL4/L_HGMIC_fpl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:9:0:0:15,22:446,753:0.00,74.95:0.00,8.30:0.00,66.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.2,73.5:0,0:0,0:120,123:31,25:21,20:-,NM_198560.2(LHFPL4) c.407-72G>A:-,0.73:-,NOT_FOUND 3 9548004 rs17815563 G A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9042,A/0.09585;Gene=LHFPL4/NM_198560.2/1;CC=c.407-117C>T;VC=Intron;DM=LHFPL4/L_HGMIC_fpl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:23:1:0:0:7,1,15:219,12,454:19.26,0.17,0.00:3.06,0.00,0.00:16.20,0.17,0.00:0.97,0.00,0.00:0.54,0.00,0.00:1.00,0.00,0.00:60,60,60:52.6,65.0,63.2:0,0,0:0,0,0:103,8,123:48,143,28:25,0,25:NM_198560.2(LHFPL4) c.407-117C>T,-:0.1,-:NOT_FOUND,- 3 9594364 . G . . NT END=9691267;NT GT ./. 3 9691427 . G . . NT END=9695304;NT GT ./. 3 9695454 . G . . NT END=9703950;NT GT ./. 3 9704060 . G . . NT END=9710402;NT GT ./. 3 9710479 . G . . NT END=9711115;NT GT ./. 3 9710855 rs159149 A G 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.004593,G/0.9954;NP=512;Gene=MTMR14/NM_001077525.2/1;CC=c.494-261A>G;VC=Intron;Gene=MTMR14/NM_001077526.2/0;CC=c.494-261A>G;VC=Intron;Gene=MTMR14/NM_022485.4/0;CC=c.494-261A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:44.7:0:0:43:107:19:NM_001077525.2(MTMR14) c.494-261A>G,NM_001077525.2(MTMR14) c.494-261A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 9711177 . G . . NT END=9712731;NT GT ./. 3 9712855 . G . . NT END=9714368;NT GT ./. 3 9714443 . G . . NT END=9719000;NT GT ./. 3 9719072 . G . . NT END=9719667;NT GT ./. 3 9719743 . G . . NT END=9724861;NT GT ./. 3 9724929 . G . . NT END=9726268;NT GT ./. 3 9726355 . G . . NT END=9726571;NT GT ./. 3 9726649 . G . . NT END=9726894;NT GT ./. 3 9726932 . G . . NT END=9729504;NT GT ./. 3 9727002 rs787836 G C 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.8219,C/0.1781;Gene=MTMR14/NM_001077525.2/1;CC=c.1164+71G>C;VC=Intron;Gene=MTMR14/NM_001077526.2/0;CC=c.1164+71G>C;VC=Intron;Gene=MTMR14/NM_022485.4/0;CC=c.1164+71G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:31:17:0:0:11,20:370,646:33.52,0.00:12.87,0.00:20.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,11.3:0,0:0,0:114,110:36,38:19,17:NM_001077525.2(MTMR14) c.1164+71G>C,-:0.2,-:0.141919,- 3 9729576 . G . . NT END=9730379;NT GT ./. 3 9730439 . G . . NT END=9730627;NT GT ./. 3 9730529 . G GT 24 idl,rn VT=INS;SST=Single;DP=82;NP=1;NP=7;Gene=MTMR14/NM_001077525.2/1;CC=c.1295-86dupT;VC=Intron;Gene=MTMR14/NM_001077526.2/0;CC=c.1295-86dupT;VC=Intron;Gene=MTMR14/NM_022485.4/0;CC=c.1295-86dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:G,GT,D:80:50:11:5:66,10,4:2153,356,164:0.00,24.32,8.44:0.00,15.80,-2.00:0.00,8.52,10.44:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.98,0.00:60,60,60:34.0,26.4,11.2:0,1,1:0,0,0:60,34,95:90,117,56:38,22,24:-,NM_001077525.2(MTMR14) c.1294+91_1294+92insT:-,NOT_FOUND:-,NOT_FOUND 3 9730767 . G . . NT END=9731647;NT GT ./. 3 9730868 rs159142 G C 288 nt VT=SNV;PN=A;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.08446,C/0.9155;Gene=MTMR14/NM_001077525.2/1;CC=c.1433+102G>C;VC=Intron;Gene=MTMR14/NM_001077526.2/0;CC=c.1433+102G>C;VC=Intron;Gene=MTMR14/NM_022485.4/0;CC=c.1433+102G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:16:0:0:75:2519:287.64:33.75:253.88:1.00:1.00:1.00:60:45.5:0:0:106:45:25:NM_001077525.2(MTMR14) c.1433+102G>C,NM_001077525.2(MTMR14) c.1433+102G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 3 9731828 . G . . NT END=9739394;NT GT ./. 3 9732005 rs115679775 T C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.9878,C/0.01218;Gene=MTMR14/NM_001077525.2/1;CC=c.1613+178T>C;VC=Intron;Gene=MTMR14/NM_001077526.2/0;CC=c.1613+178T>C;VC=Intron;Gene=MTMR14/NM_022485.4/0;CC=c.1433+1239T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:0:0:0:7,7:205,229:19.62,0.00:0.00,0.00:19.62,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:42.9,7.6:0,0:0,0:78,95:73,56:13,27:NM_001077525.2(MTMR14) c.1613+178T>C,-:0.02,-:NOT_FOUND,- 3 9739551 . G . . NT END=9743473;NT GT ./. 3 9743398 rs576375120 TGGAG T 130 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=TGGAG/0.09205,T/0.9079;DB;DBA=NA;PAF=TGGAG/0.09205,T/0.9079;DB;DBA=NA;PAF=TGGAG/0.09205,T/0.9079;DB;DBA=NA;PAF=TGGAG/0.09205,T/0.9079;DB;DBA=NA;PAF=NA;NP=2339;PC=0.447;Gene=MTMR14/NM_001077525.2/1;CC=c.1770-66_1770-63delGAGG;VC=Intron;Gene=MTMR14/NM_001077526.2/0;CC=c.1614-66_1614-63delGAGG;VC=Intron;Gene=MTMR14/NM_022485.4/0;CC=c.1434-66_1434-63delGAGG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:TGGAG,T:46:44:0:40:6,40:167,1186:0.00,129.99:0.00,115.52:0.00,14.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.2,11.9:0,0:0,0:137,49:10,100:1,27:-,NM_001077525.2(MTMR14) c.1770-75_1770-72delGGAG:-,0.88:-,NOT_FOUND 3 9743658 . A . . NT END=9745680;NT GT ./. 3 9745749 . G . . NT END=9746270;NT GT ./. 3 9746312 . G . . NT END=9746432;NT GT ./. 3 9746480 . G . . NT END=9746574;NT GT ./. 3 9746679 . G . . NT END=9747147;NT GT ./. 3 9747185 . G . . NT END=9747401;NT GT ./. 3 9747194 . C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;Gene=CPNE9/NM_001308388.1/0;CC=c.297+10C>T;VC=Intron;Gene=CPNE9/NM_153635.2/1;CC=c.297+10C>T;VC=Intron;DM=CPNE9/C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:13:0:0:22,11:683,353:0.00,31.43:0.00,3.74:0.00,27.69:0.00,1.00:0.00,0.99:0.00,1.00:60,60:10.1,53.5:0,0:0,0:72,96:75,48:24,24:-,NM_153635.2(CPNE9) c.297+10C>T:-,NOT_FOUND:-,NOT_FOUND 3 9747405 . G . . NT END=9747670;NT GT ./. 3 9747748 . G . . NT END=9754224;NT GT ./. 3 9754289 . G . . NT END=9754408;NT GT ./. 3 9754513 . G . . NT END=9754658;NT GT ./. 3 9754764 . G . . NT END=9756597;NT GT ./. 3 9756640 . G . . NT END=9756972;NT GT ./. 3 9757049 . G . . NT END=9757156;NT GT ./. 3 9757086 rs697820 C G 153 nt VT=SNV;PN=T;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.8542,G/0.1458;Gene=CPNE9/NM_001308388.1/0;CC=c.768+38C>G;VC=Intron;Gene=CPNE9/NM_153635.2/1;CC=c.768+38C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:81:48:0:0:36,45:1157,1559:0.00,153.27:0.00,70.36:0.00,82.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.2,39.4:0,0:0,0:98,98:49,53:31,40:-,NM_153635.2(CPNE9) c.768+38C>G:-,0.19:-,0.24815 3 9757211 . G . . NT END=9757657;NT GT ./. 3 9757511 rs3914774 T C 25 nt VT=SNV;PN=G;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7141,C/0.2859;Gene=CPNE9/NM_001308388.1/0;CC=c.823-147T>C;VC=Intron;Gene=CPNE9/NM_153635.2/1;CC=c.823-147T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:C,T:12:12:0:0:8,4:250,118:25.48,0.00:25.48,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.2,26.0:0,0:0,0:47,61:104,89:40,30:NM_153635.2(CPNE9) c.823-147T>C,-:0.29,-:NOT_FOUND,- 3 9757720 . G . . NT END=9758741;NT GT ./. 3 9758789 . G . . NT END=9759712;NT GT ./. 3 9759895 . G . . NT END=9760158;NT GT ./. 3 9760287 . G . . NT END=9767632;NT GT ./. 3 9767736 . G . . NT END=9768348;NT GT ./. 3 9768336 rs3868893 C G 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.492,G/0.508;PC=0.001;Gene=CPNE9/NM_001308388.1/0;CC=c.1345-13C>G;VC=Intron;Gene=CPNE9/NM_153635.2/1;CC=c.1345-13C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:32:27:0:0:15,17:528,574:0.00,55.90:0.00,34.46:0.00,21.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,54.7:0,0:0,0:78,57:70,90:30,28:-,NM_153635.2(CPNE9) c.1345-13C>G:-,0.48:-,0.452182 3 9768407 . G . . NT END=9768796;NT GT ./. 3 9768871 . G . . NT END=9771190;NT GT ./. 3 9769008 rs3891072 A T 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5789,T/0.4211;PC=0.738;Gene=CPNE9/NM_001308388.1/0;CC=c.1477-23A>T;VC=Intron;Gene=CPNE9/NM_153635.2/1;CC=c.1476+138A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,T:22:0:0:0:7,15:202,477:0.00,48.92:0.00,0.00:0.00,48.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.1,33.5:0,0:0,0:114,83:35,68:15,49:-,NM_153635.2(CPNE9) c.1476+138A>T:-,0.38:-,NOT_FOUND 3 9771377 . G . . NT END=9775824;NT GT ./. 3 9776424 . G . . NT END=9780682;NT GT ./. 3 9781643 . G . . NT END=9782462;NT GT ./. 3 9782626 . G . . NT END=9782991;NT GT ./. 3 9783124 . G . . NT END=9783708;NT GT ./. 3 9783320 . CAA C 8 idl,rn VT=DEL;SST=Single;DP=7;PC=0.006;Gene=BRPF1/NM_001003694.1/0;CC=c.1854+216_1854+217delAA;VC=Intron;Gene=BRPF1/NM_004634.2/1;CC=c.1854+216_1854+217delAA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,CAA,C:6:2:0:6:1,2,3:8,45,99:0.36,0.00,7.95:0.00,0.00,3.21:0.36,0.00,4.74:0.00,0.00,0.69:0.00,0.00,0.73:0.00,0.00,0.93:60,60,60:182.0,25.0,126.3:0,0,1:0,0,0:106,90,117:45,59,33:0,54,4:-,NM_001003694.1(BRPF1) c.1854+198_1854+199delAA:-,NOT_FOUND:-,NOT_FOUND 3 9783856 . G . . NT END=9784035;NT GT ./. 3 9784224 . A . . NT END=9784627;NT GT ./. 3 9784938 . G . . NT END=9785261;NT GT ./. 3 9785586 . G . . NT END=9785907;NT GT ./. 3 9786193 . G . . NT END=9786691;NT GT ./. 3 9786840 . G . . NT END=9787256;NT GT ./. 3 9787615 . G . . NT END=9787983;NT GT ./. 3 9788139 . G . . NT END=9788849;NT GT ./. 3 9788168 rs2269112 C T 91 nt VT=SNV;PN=A;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.855,T/0.145;Gene=BRPF1/NM_001003694.1/0;CC=c.3479+30C>T;VC=Intron;Gene=BRPF1/NM_004634.2/1;CC=c.3461+30C>T;VC=Intron;DM=BRPF1/PWWP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:33:0:0:37,32:1237,961:0.00,90.53:0.00,27.97:0.00,62.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,39.1:0,0:0,0:87,75:50,51:31,33:-,NM_001003694.1(BRPF1) c.3479+30C>T:-,0.13:-,0.127326 3 9789034 . T . . NT END=9791970;NT GT ./. 3 9792108 . G . . NT END=9792628;NT GT ./. 3 9792877 . G . . NT END=9793453;NT GT ./. 3 9793634 . G . . NT END=9796387;NT GT ./. 3 9796570 . G . . NT END=9798154;NT GT ./. 3 9798140 rs2072668 C G 117 nt VT=SNV;PN=T;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.6645,G/0.3355;PC=0.002;Gene=OGG1/NM_002542.5/0;CC=c.748-15C>G;VC=Intron;Gene=OGG1/NM_016819.3/0;CC=c.748-15C>G;VC=Intron;Gene=OGG1/NM_016820.3/0;CC=c.748-15C>G;VC=Intron;Gene=OGG1/NM_016821.2/0;CC=c.748-15C>G;VC=Intron;Gene=OGG1/NM_016826.2/0;CC=c.747+1571C>G;VC=Intron;Gene=OGG1/NM_016827.2/0;CC=c.565+4507C>G;VC=Intron;Gene=OGG1/NM_016828.2/1;CC=c.748-15C>G;VC=Intron;Gene=OGG1/NM_016829.2/0;CC=c.748-15C>G;VC=Intron;DM=OGG1/HhH-GPD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:75:68:0:0:39,36:1306,1223:0.00,116.93:0.00,81.96:0.00,34.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,41.3:0,0:0,0:56,61:90,81:27,31:-,NM_016828.2(OGG1) c.748-15C>G:-,0.33:-,0.243734 3 9798306 . G . . NT END=9798450;NT GT ./. 3 9798773 rs1052133 C G 274 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=175;DB;DBA=NA;PAF=C/0.6979,G/0.3021;Gene=OGG1/NM_002542.5/0;CC=c.977C>G;ProtCh=p.S326C;VC=Missense;Gene=OGG1/NM_016819.3/0;CC=c.*246C>G;VC=3UTR;Gene=OGG1/NM_016820.3/0;CC=c.994C>G;ProtCh=p.P332A;VC=Missense;Gene=OGG1/NM_016821.2/0;CC=c.948+273C>G;VC=Intron;Gene=OGG1/NM_016826.2/0;CC=c.747+2204C>G;VC=Intron;Gene=OGG1/NM_016827.2/0;CC=c.565+5140C>G;VC=Intron;Gene=OGG1/NM_016828.2/1;CC=c.948+273C>G;VC=Intron;Gene=OGG1/NM_016829.2/0;CC=c.948+273C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:175:121:0:0:90,85:2924,2862:0.00,274.10:0.00,138.29:0.00,135.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,39.3:0,0:0,0:78,80:72,67:38,38:-,NM_016828.2(OGG1) c.948+273C>G:-,0.3:-,0.211133 3 9799092 . T . . NT END=9799200;NT GT ./. 3 9799585 . G . . NT END=9800870;NT GT ./. 3 9800971 . G . . NT END=9801171;NT GT ./. 3 9801080 rs2304277 G A 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.648,A/0.352;Gene=OGG1/NM_016821.2/0;CC=c.948+2580G>A;VC=Intron;Gene=OGG1/NM_016826.2/0;CC=c.747+4511G>A;VC=Intron;Gene=OGG1/NM_016827.2/0;CC=c.566-6413G>A;VC=Intron;Gene=OGG1/NM_016828.2/1;CC=c.1048+110G>A;VC=Intron;Gene=OGG1/NM_016829.2/0;CC=c.*32+110G>A;VC=Intron;Gene=CAMK1/NM_003656.4/1;CC=c.912+92C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:37:0:0:16,30:503,998:45.01,0.00:24.56,0.00:20.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,6.5:0,0:0,0:57,35:94,115:33,19:NM_003656.4(CAMK1) c.912+92C>T,-:0.34,-:NOT_FOUND,- 3 9801314 . C . . NT END=9801355;NT GT ./. 3 9801489 . T . . NT END=9802339;NT GT ./. 3 9802507 . G . . NT END=9803144;NT GT ./. 3 9802599 rs7617500 G C 112 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.6927,C/0.3073;Gene=OGG1/NM_016821.2/0;CC=c.948+4099G>C;VC=Intron;Gene=OGG1/NM_016826.2/0;CC=c.748-4894G>C;VC=Intron;Gene=OGG1/NM_016827.2/0;CC=c.566-4894G>C;VC=Intron;Gene=OGG1/NM_016828.2/1;CC=c.1048+1629G>C;VC=Intron;Gene=OGG1/NM_016829.2/0;CC=c.*32+1629G>C;VC=Intron;Gene=CAMK1/NM_003656.4/1;CC=c.633-147C>G;VC=Intron;DM=CAMK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:54:17:0:0:34,20:1112,675:111.93,0.00:22.14,0.00:89.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.7,24.9:0,0:0,0:119,114:28,36:18,23:NM_003656.4(CAMK1) c.633-147C>G,-:0.34,-:NOT_FOUND,- 3 9802630 rs7609858 T A 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.6472,A/0.3528;Gene=OGG1/NM_016821.2/0;CC=c.948+4130T>A;VC=Intron;Gene=OGG1/NM_016826.2/0;CC=c.748-4863T>A;VC=Intron;Gene=OGG1/NM_016827.2/0;CC=c.566-4863T>A;VC=Intron;Gene=OGG1/NM_016828.2/1;CC=c.1048+1660T>A;VC=Intron;Gene=OGG1/NM_016829.2/0;CC=c.*32+1660T>A;VC=Intron;Gene=CAMK1/NM_003656.4/1;CC=c.633-178A>T;VC=Intron;DM=CAMK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:33:3:0:0:13,20:383,593:34.90,0.00:2.89,0.00:32.01,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:39.7,47.0:0,0:0,0:126,123:24,28:18,20:NM_003656.4(CAMK1) c.633-178A>T,-:0.33,-:NOT_FOUND,- 3 9803126 rs17252807 A G 120 nt VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.6843,G/0.3157;Gene=OGG1/NM_016821.2/0;CC=c.949-4367A>G;VC=Intron;Gene=OGG1/NM_016826.2/0;CC=c.748-4367A>G;VC=Intron;Gene=OGG1/NM_016827.2/0;CC=c.566-4367A>G;VC=Intron;Gene=OGG1/NM_016828.2/1;CC=c.1048+2156A>G;VC=Intron;Gene=OGG1/NM_016829.2/0;CC=c.*32+2156A>G;VC=Intron;Gene=CAMK1/NM_003656.4/1;CC=c.632+19T>C;VC=Intron;DM=CAMK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:100:87:0:0:57,43:1900,1294:0.00,120.11:0.00,79.21:0.00,40.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,36.8:0,0:0,0:47,44:101,101:33,27:-,NM_003656.4(CAMK1) c.632+19T>C:-,0.35:-,0.429033 3 9803275 . T . . NT END=9803314;NT GT ./. 3 9803496 . G . . NT END=9804597;NT GT ./. 3 9804791 . T . . NT END=9804822;NT GT ./. 3 9804952 . c . . NT END=9807442;NT GT ./. 3 9807728 . g . . NT END=9808266;NT GT ./. 3 9808354 . T . . NT END=9809350;NT GT ./. 3 9809082 rs293796 T C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.112,C/0.888;PC=0.002;Gene=CAMK1/NM_003656.4/1;CC=c.83+269A>G;VC=Intron;DM=CAMK1/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:157:18.08:18.08:0.00:1.00:1.00:0.00:60:39.8:0:0:53:98:28:NM_003656.4(CAMK1) c.83+269A>G,NM_003656.4(CAMK1) c.83+269A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 9809488 . A . . NT END=9822040;NT GT ./. 3 9821914 rs14204 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.7121,T/0.2879;Gene=TADA3/NM_001278270.1/0;CC=c.*127G>A;VC=3UTR;Gene=TADA3/NM_006354.3/1;CC=c.*127G>A;VC=3UTR;Gene=TADA3/NR_103488.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:36:0:0:19,17:604,539:0.00,51.20:0.00,51.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.9,45.4:0,0:0,0:46,35:105,116:29,32:-,NM_006354.2(TADA3) c.*127G>A:-,0.28:-,NOT_FOUND 3 9822234 . C . . NT END=9825603;NT GT ./. 3 9822275 rs3868897 C T 477 nt VT=SNV;PN=T;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=C/0.3466,T/0.6534;Gene=TADA3/NM_001278270.1/0;CC=c.1107-42G>A;VC=Intron;Gene=TADA3/NM_006354.3/1;CC=c.1107-42G>A;VC=Intron;Gene=TADA3/NR_103488.1/0;VC=NonCoding;DM=TADA3/Ada3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:136:66:0:0:1,1,134:13,8,4158:0.00,0.04,476.92:0.00,0.00,147.66:0.00,0.04,329.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,38.0,41.0:1,0,0:0,0,0:1,29,100:148,122,43:0,0,25:NM_006354.2(TADA3) c.1107-42G>A,NM_006354.2(TADA3) c.1107-42G>A:0.67,0.67:0.670205,0.670205 3 9822375 rs3872717 C G 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.6655,G/0.3345;Gene=TADA3/NM_001278270.1/0;CC=c.1107-142G>C;VC=Intron;Gene=TADA3/NM_006354.3/1;CC=c.1107-142G>C;VC=Intron;Gene=TADA3/NR_103488.1/0;VC=NonCoding;DM=TADA3/Ada3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:42:0:0:0:21,21:663,636:0.00,60.89:0.00,0.00:0.00,60.89:0.00,1.00:0.00,0.00:0.00,1.00:60,60:30.2,57.6:0,0:0,0:121,84:30,56:21,48:-,NM_006354.2(TADA3) c.1107-142G>C:-,0.36:-,NOT_FOUND 3 9825898 . C . . NT END=9826999;NT GT ./. 3 9827110 . C . . NT END=9828689;NT GT ./. 3 9828676 rs7621556 G C 142 nt VT=SNV;PN=G;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.7043,C/0.2957;PC=0.002;Gene=TADA3/NM_001278270.1/0;CC=c.810+14C>G;VC=Intron;Gene=TADA3/NM_006354.3/1;CC=c.810+14C>G;VC=Intron;Gene=TADA3/NR_103488.1/0;VC=NonCoding;Gene=TADA3/NM_133480.2/0;CC=c.810+14C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:97:88:0:0:45,52:1501,1634:142.47,0.00:107.94,0.00:34.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,6.8:0,0:0,0:38,39:113,109:27,25:NM_006354.2(TADA3) c.810+14C>G,-:0.29,-:0.19837,- 3 9828794 . C . . NT END=9828882;NT GT ./. 3 9829025 . C . . NT END=9829411;NT GT ./. 3 9829171 rs2290309 G A 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.6945,A/0.3055;PC=0.371;Gene=TADA3/NM_001278270.1/0;CC=c.565-147C>T;VC=Intron;Gene=TADA3/NM_006354.3/1;CC=c.565-147C>T;VC=Intron;Gene=TADA3/NR_103488.1/0;VC=NonCoding;Gene=TADA3/NM_133480.2/0;CC=c.565-147C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:8:0:0:24,23:746,709:71.87,0.00:13.00,0.00:58.87,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:56.0,9.3:0,0:0,0:86,95:63,55:33,40:NM_006354.2(TADA3) c.565-147C>T,-:0.34,-:NOT_FOUND,- 3 9829226 rs293786 A C 76 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.5313,C/0.4687;Gene=TADA3/NM_001278270.1/0;CC=c.565-202T>G;VC=Intron;Gene=TADA3/NM_006354.3/1;CC=c.565-202T>G;VC=Intron;Gene=TADA3/NR_103488.1/0;VC=NonCoding;Gene=TADA3/NM_133480.2/0;CC=c.565-202T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:41:20:0:0:17,24:479,769:0.00,76.28:0.00,46.63:0.00,29.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.5,58.9:0,0:0,0:74,61:76,88:36,36:-,NM_006354.2(TADA3) c.565-202T>G:-,0.5:-,NOT_FOUND 3 9829424 . G . . NT END=9831192;NT GT ./. 3 9831299 . C . . NT END=9831396;NT GT ./. 3 9831648 . C . . NT END=9832943;NT GT ./. 3 9833151 . G . . NT END=9834161;NT GT ./. 3 9834809 . G . . NT END=9839342;NT GT ./. 3 9834905 rs2276797 C T 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.7897,T/0.2103;PC=0.122;Gene=ARPC4/NM_001024959.2/0;CC=c.-268+516C>T;VC=Intron;Gene=ARPC4/NM_001024960.2/0;CC=c.-268+661C>T;VC=Intron;Gene=ARPC4/NM_005718.4/1;CC=c.3+97C>T;VC=Intron;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.3+97C>T;VC=Intron;Gene=ARPC4/NM_001198780.1/0;CC=c.60+40C>T;VC=Intron;DM=ARPC4/ARPC4;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4-TTLL3/ARPC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:72:19:0:0:31,2,39:866,21,1122:0.00,0.15,109.89:0.00,-0.09,11.55:0.00,0.24,98.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.3,25.0,50.3:0,0,0:0,0,0:112,78,107:39,72,44:23,14,26:-,NM_001198780.1(ARPC4) c.60+40C>T:-,0.19:-,NOT_FOUND 3 9835140 rs159143 T G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2488,G/0.7512;PC=0.003;Gene=ARPC4/NM_001024959.2/0;CC=c.-268+751T>G;VC=Intron;Gene=ARPC4/NM_001024960.2/0;CC=c.-268+896T>G;VC=Intron;Gene=ARPC4/NM_005718.4/1;CC=c.3+332T>G;VC=Intron;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.3+332T>G;VC=Intron;Gene=ARPC4/NM_001198780.1/0;CC=c.60+275T>G;VC=Intron;DM=ARPC4/ARPC4;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4-TTLL3/ARPC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:0:0:0:5:126:14.92:0.00:14.92:1.00:0.00:1.00:60:63.4:0:0:118:33:8:NM_001198780.1(ARPC4) c.60+275T>G,NM_001198780.1(ARPC4) c.60+275T>G:0.77,0.77:NOT_FOUND,NOT_FOUND 3 9839182 rs4686371 T C 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7015,C/0.2985;Gene=ARPC4/NM_001024959.2/0;CC=c.-267-161T>C;VC=Intron;Gene=ARPC4/NM_001024960.2/0;CC=c.-267-161T>C;VC=Intron;Gene=ARPC4/NM_005718.4/1;CC=c.4-161T>C;VC=Intron;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.4-161T>C;VC=Intron;Gene=ARPC4/NM_001198780.1/0;CC=c.61-161T>C;VC=Intron;DM=ARPC4/ARPC4;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4-TTLL3/ARPC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:7,8:208,262:19.63,0.00:19.63,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:39.4,5.6:0,0:0,0:47,28:104,122:15,22:NM_001198780.1(ARPC4) c.61-161T>C,-:0.3,-:NOT_FOUND,- 3 9839462 . G . . NT END=9841868;NT GT ./. 3 9841981 . G . . NT END=9843344;NT GT ./. 3 9841989 rs6443266 A G 287 nt VT=SNV;PN=C;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.3446,G/0.6554;PC=0.013;Gene=ARPC4/NM_001024959.2/0;CC=c.-37+9A>G;VC=Intron;Gene=ARPC4/NM_001024960.2/0;CC=c.-37+9A>G;VC=Intron;Gene=ARPC4/NM_005718.4/1;CC=c.234+9A>G;VC=Intron;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.234+9A>G;VC=Intron;Gene=ARPC4/NM_001198780.1/0;CC=c.291+9A>G;VC=Intron;DM=ARPC4/ARPC4;DM=ARPC4/ARPC4;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4-TTLL3/ARPC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:76:41:0:0:76:2512:287.36:96.04:191.33:1.00:1.00:1.00:60:38.3:0:0:94:50:27:NM_001198780.1(ARPC4) c.291+9A>G,NM_001198780.1(ARPC4) c.291+9A>G:0.67,0.67:0.680753,0.680753 3 9843441 . G . . NT END=9845526;NT GT ./. 3 9845698 . G . . NT END=9847893;NT GT ./. 3 9847900 . A . . NT END=9851690;NT GT ./. 3 9851643 rs71626937 G GGGGCGCGGGATCAGGGGCCCTGGGAGGGC 155 nt VT=INS;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;PC=0.013;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.331-2982_331-2954dupGGCGCGGGATCAGGGGCCCTGGGAGGGCG;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.-46_-18dupGGCGCGGGATCAGGGGCCCTGGGAGGGCG;VC=5UTR;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4-TTLL3/ARPC4;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGGGCGCGGGATCAGGGGCCCTGGGAGGGC:59:59:48:0:11,48:348,1444:0.00,154.95:0.00,148.63:0.00,6.32:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.5,4.0:1,0:0,0:136,69:13,38:13,22:-,NM_001025930.3(TTLL3) c.-47-u1_-47insGGGCGCGGGATCAGGGGCCCTGGGAGGGC:-,NOT_FOUND:-,NOT_FOUND 3 9852059 rs34761997 C CGAT 569 PASS VT=INS;SST=Single;DP=190;DB;DBA=NA;PAF=C/0.1839,CGAT/0.8161;NP=15;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.331-2566_331-2565insTGA;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.371_372insTGA;ProtCh=p.D124_P125insD;VC=InFrameIns;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4-TTLL3/ARPC4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:C,T,CGAT:190:142:169:0:19,2,169:544,58,5143:0.00,2.78,568.68:0.00,2.84,344.77:0.00,-0.06,223.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.6,75.5,21.2:4,0,0:0,0,0:143,0,69:3,150,75:3,0,36:-,NM_001025930.3(TTLL3) c.371_372insTGA (p.Asp124dup):-,NOT_FOUND:-,NOT_FOUND 3 9852148 rs9827444 G A 778 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=212;DB;DBA=NA;PAF=G/0.7045,A/0.2955;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.331-2479G>A;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.388+70G>A;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4-TTLL3/ARPC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:212:144:0:0:210,1,1:6809,32,11:777.79,0.00,0.07:366.46,0.00,0.07:411.33,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.6,11.0,57.0:0,0,0:0,0,0:70,47,131:79,103,18:32,0,0:NM_001025930.3(TTLL3) c.388+70G>A,NM_001025930.3(TTLL3) c.388+70G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 3 9852394 . G . . NT END=9854626;NT GT ./. 3 9854450 rs4020750 A G 76 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7121,G/0.2879;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.331-177A>G;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.478-177A>G;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=ARPC4-TTLL3/ARPC4;DM=ARPC4-TTLL3/ARPC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G,T:21:21:0:0:20,1:672,8:76.31,0.23:76.31,0.23:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.4,109.0:0,0:0,0:46,95:105,53:18,0:NM_001025930.3(TTLL3) c.478-177A>G,NM_001025930.3(TTLL3) c.478-177A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 3 9854796 . G . . NT END=9854931;NT GT ./. 3 9855030 . G . . NT END=9857757;NT GT ./. 3 9855354 rs11131189 A G 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7336,G/0.2664;PC=0.014;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.597+325A>G;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.744+325A>G;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:168:19.18:0.00:19.18:1.00:0.00:1.00:60:33.6:0:0:32:118:5:NM_001025930.3(TTLL3) c.744+325A>G,NM_001025930.3(TTLL3) c.744+325A>G:0.32,0.32:NOT_FOUND,NOT_FOUND 3 9857514 rs7652460 A G 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1853,G/0.8147;PC=0.002;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.598-1815A>G;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.745-1815A>G;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:165:18.88:18.88:0.00:1.00:1.00:0.00:60:38.6:0:0:46:101:25:NM_001025930.3(TTLL3) c.745-1815A>G,NM_001025930.3(TTLL3) c.745-1815A>G:0.84,0.84:NOT_FOUND,NOT_FOUND 3 9857887 . G . . NT END=9859098;NT GT ./. 3 9858891 rs58647240 C G 29 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2204,G/0.7796;PC=0.012;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.598-438C>G;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.745-438C>G;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:G:10:10:0:0:10:241:28.64:28.64:0.00:1.00:1.00:0.00:60:38.1:0:0:41:109:22:NM_001025930.3(TTLL3) c.745-438C>G,NM_001025930.3(TTLL3) c.745-438C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 9859107 rs201316228 C CA 23 idl,rn VT=INS;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.8708,CA/0.1292;NP=44;PC=0.008;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.598-211_598-210insA;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.745-211_745-210insA;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,C,G,CA,D:113:104:11:10:2,91,1,10,9:21,2922,21,354,321:-0.32,0.00,0.28,22.68,19.83:-0.57,0.00,0.34,15.45,15.21:0.25,0.00,-0.06,7.23,4.63:0.00,0.00,0.00,0.97,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.87,0.00:60,60,60,60,60:64.5,27.5,21.0,28.6,21.7:0,0,0,1,1:0,0,0,0,0:29,51,146,67,48:119,94,4,74,102:24,27,0,33,29:-,NM_001025930.3(TTLL3) c.745-222_745-221insA:-,0.16:-,NOT_FOUND 3 9859198 rs11131190 G A 744 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=208;DB;DBA=NA;PAF=G/0.7344,A/0.2656;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.598-131G>A;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.745-131G>A;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:208:160:0:0:208:6456:744.27:457.75:286.52:1.00:1.00:1.00:60:41.5:0:0:65:83:34:NM_001025930.3(TTLL3) c.745-131G>A,NM_001025930.3(TTLL3) c.745-131G>A:0.32,0.32:NOT_FOUND,NOT_FOUND 3 9859444 . G . . NT END=9860331;NT GT ./. 3 9859456 rs3806672 C G 529 nt VT=SNV;PN=C;NN=C;SST=Single;DP=140;DB;DBA=NA;PAF=C/0.7344,G/0.2656;PC=0.001;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.712+13C>G;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.859+13C>G;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:140:55:0:0:140:4620:528.61:134.11:394.50:1.00:1.00:1.00:60:42.2:0:0:92:59:31:NM_001025930.3(TTLL3) c.859+13C>G,NM_001025930.3(TTLL3) c.859+13C>G:0.32,0.32:0.385198,0.385198 3 9859777 rs3806670 G T 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7346,T/0.2654;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.712+334G>T;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.859+334G>T;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:82:10.07:0.00:10.07:1.00:0.00:1.00:60:57.5:0:0:94:55:33:NM_001025930.3(TTLL3) c.859+334G>T,NM_001025930.3(TTLL3) c.859+334G>T:0.32,0.32:NOT_FOUND,NOT_FOUND 3 9860654 . t . . NT END=9861169;NT GT ./. 3 9860880 rs3806667 G T 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1853,T/0.8147;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.713-1350G>T;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.958+276G>T;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:155:17.88:0.00:17.88:1.00:0.00:1.00:60:31.0:0:0:107:44:13:NM_001025930.3(TTLL3) c.958+276G>T,NM_001025930.3(TTLL3) c.958+276G>T:0.84,0.84:NOT_FOUND,NOT_FOUND 3 9861053 rs3806666 T C 105 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.1933,C/0.8067;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.713-1177T>C;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.958+449T>C;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:30:0:0:30:907:104.98:104.98:0.00:1.00:1.00:0.00:60:37.2:0:0:33:117:27:NM_001025930.3(TTLL3) c.958+449T>C,NM_001025930.3(TTLL3) c.958+449T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 3 9862426 . G . . NT END=9867483;NT GT ./. 3 9867169 rs6787367 G T 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5795,T/0.4205;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.909-315G>T;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.1155-315G>T;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:191:21.96:21.96:0.00:1.00:1.00:0.00:60:37.2:0:0:17:132:8:NM_001025930.3(TTLL3) c.1155-315G>T,NM_001025930.3(TTLL3) c.1155-315G>T:0.48,0.48:NOT_FOUND,NOT_FOUND 3 9867625 rs3732527 C T 785 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=211;DB;DBA=NA;PAF=C/0.5266,T/0.4734;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1050C>T;ProtCh=p.R350=;VC=Silent;Gene=TTLL3/NM_001025930.3/1;CC=c.1296C>T;ProtCh=p.R432=;VC=Silent;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:211:113:0:0:1,210:11,6851:0.07,784.64:0.00,272.91:0.07,511.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:164.0,38.0:0,0:0,0:90,83:34,61:0,32:NM_001025930.3(TTLL3) c.1296C>T (p.(=)),NM_001025930.3(TTLL3) c.1296C>T (p.(=)):0.52,0.52:0.647932,0.647932 3 9867633 . G . . NT END=9868680;NT GT ./. 3 9868409 rs36060940 CA C 13 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1058-249delA;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.1304-249delA;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL;DM=TTLL3/TTL;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CA,C:6:10:0:8:2,4:70,248:0.00,12.97:0.00,12.97:0.00,0.00:0.00,0.84:0.00,0.84:0.00,0.00:60,60:5.0,76.5:0,4:0,0:36,34:115,106:31,22:-,NM_001025930.3(TTLL3) c.1304-271delA:-,NOT_FOUND:-,NOT_FOUND 3 9868577 rs12490900 A G 335 nt VT=SNV;PN=C;NN=C;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.5196,G/0.4804;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1058-104A>G;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.1304-104A>G;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:101:95:0:0:1,1,98,1:11,7,2918,29:0.00,0.04,335.32,1.39:0.00,0.04,266.60,1.39:0.00,0.00,68.71,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:178.0,20.0,37.7,29.0:0,0,0,0:0,0,0,0:43,150,42,13:94,1,108,138:0,0,27,0:NM_001025930.3(TTLL3) c.1304-104A>G,NM_001025930.3(TTLL3) c.1304-104A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 3 9868925 . g . . NT END=9870643;NT GT ./. 3 9869150 rs11717031 G T 74 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.5212,T/0.4788;PC=0.001;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1301+226G>T;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.1547+226G>T;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:0:0:0:20:647:74.19:0.00:74.19:1.00:0.00:1.00:60:56.6:0:0:97:54:36:NM_001025930.3(TTLL3) c.1547+226G>T,NM_001025930.3(TTLL3) c.1547+226G>T:0.52,0.52:NOT_FOUND,NOT_FOUND 3 9870857 rs2290303 G A 1242 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=343;DB;DBA=NA;PAF=G/0.727,A/0.273;PC=0.051;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1515G>A;ProtCh=p.Q505=;VC=Silent;Gene=TTLL3/NM_001025930.3/1;CC=c.1761G>A;ProtCh=p.Q587=;VC=Silent;Gene=TTLL3/NR_037162.1/0;VC=NonCoding;DM=TTLL3/TTL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:343:238:0:0:342,1:10798,26:1241.84,0.66:651.14,0.66:590.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,111.0:0,0:0,0:69,94:79,57:40,0:NM_001025930.3(TTLL3) c.1761G>A (p.(=)),NM_001025930.3(TTLL3) c.1761G>A (p.(=)):0.33,0.33:0.394895,0.394895 3 9871030 rs2290305 T G 1170 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=316;DB;DBA=NA;PAF=T/0.5182,G/0.4818;PC=0.063;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1688T>G;ProtCh=p.M563R;VC=Missense;Gene=TTLL3/NM_001025930.3/1;CC=c.1934T>G;ProtCh=p.M645R;VC=Missense;Gene=TTLL3/NR_037162.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:316:172:0:0:316:10198:1170.14:431.71:738.43:1.00:1.00:1.00:60:39.4:0:0:95:49:31:NM_001025930.3(TTLL3) c.1934T>G (p.Met645Arg),NM_001025930.3(TTLL3) c.1934T>G (p.Met645Arg):0.52,0.52:0.658158,0.658158 3 9871080 . G . . NT END=9874787;NT GT ./. 3 9874670 rs7622954 G A 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.5188,A/0.4812;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1738-1695G>A;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.1984-118G>A;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:30:0:0:31:973:112.06:101.58:10.48:1.00:1.00:1.00:60:43.6:0:0:38:113:19:NM_001025930.3(TTLL3) c.1984-118G>A,NM_001025930.3(TTLL3) c.1984-118G>A:0.52,0.52:NOT_FOUND,NOT_FOUND 3 9874958 . G . . NT END=9876364;NT GT ./. 3 9875212 rs11926325 G A 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1801,A/0.8199;PC=0.021;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1738-1153G>A;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.2125+283G>A;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:222:25.53:0.00:25.53:1.00:0.00:1.00:60:46.9:0:0:93:58:44:NM_001025930.3(TTLL3) c.2125+283G>A,NM_001025930.3(TTLL3) c.2125+283G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 3 9876301 rs13088594 G T 418 nt VT=SNV;PN=T;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.1785,T/0.8215;Gene=ARPC4-TTLL3/NM_001198793.1/1;CC=c.1738-64G>T;VC=Intron;Gene=TTLL3/NM_001025930.3/1;CC=c.2126-64G>T;VC=Intron;Gene=TTLL3/NR_037162.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:122:108:0:0:122:3602:417.94:318.60:99.35:1.00:1.00:1.00:60:42.9:1:0:36:114:23:NM_001025930.3(TTLL3) c.2126-64G>T,NM_001025930.3(TTLL3) c.2126-64G>T:0.85,0.85:NOT_FOUND,NOT_FOUND 3 9876506 . G . . NT END=9879699;NT GT ./. 3 9879892 . C . . NT END=9880715;NT GT ./. 3 9880426 rs11131194 C G,T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5958,T/0.4042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:19:G,T:6:6:0:0:2,4:23,134:2.28,14.60:2.28,14.60:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:123.0,57.5:0,0:0,0:69,71:81,79:61,20:NM_173659.3(RPUSD3) c.864+290G>C,NM_173659.3(RPUSD3) c.864+290G>A:NOT_FOUND,0.41:NOT_FOUND,NOT_FOUND 3 9880856 . C . . NT END=9881867;NT GT ./. 3 9881992 . C . . NT END=9882215;NT GT ./. 3 9882301 . C . . NT END=9882381;NT GT ./. 3 9882490 . C . . NT END=9883666;NT GT ./. 3 9883767 . C . . NT END=9883882;NT GT ./. 3 9883928 . C . . NT END=9885148;NT GT ./. 3 9885022 rs3846165 T C 176 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.1234,C/0.8766;Gene=RPUSD3/NM_001142547.1/0;CC=c.262+127A>G;VC=Intron;Gene=RPUSD3/NM_173659.3/1;CC=c.262+127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:45:0:0:46:1542:176.14:162.62:13.52:1.00:1.00:1.00:60:40.4:0:0:56:95:31:NM_173659.3(RPUSD3) c.262+127A>G,NM_173659.3(RPUSD3) c.262+127A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 3 9885286 . C . . NT END=9885573;NT GT ./. 3 9885699 . G . . NT END=9908816;NT GT ./. 3 9908656 rs28575453 C T 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9738,T/0.02616;Gene=CIDEC/NM_001199623.1/0;CC=c.*162G>A;VC=3UTR;Gene=CIDEC/NM_022094.3/0;CC=c.*162G>A;VC=3UTR;Gene=CIDEC/NM_001199551.1/1;CC=c.*162G>A;VC=3UTR;Gene=CIDEC/NM_001199552.1/0;CC=c.*162G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:9:9:0:0:2,7:68,208:0.00,22.04:0.00,22.04:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.5,51.9:0,0:0,0:49,36:101,115:26,20:-,NM_001199623.1(CIDEC) c.*162G>A:-,0.03:-,NOT_FOUND 3 9908749 rs1053239 G C 47 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.781,C/0.219;Gene=CIDEC/NM_001199623.1/0;CC=c.*69C>G;VC=3UTR;Gene=CIDEC/NM_022094.3/0;CC=c.*69C>G;VC=3UTR;Gene=CIDEC/NM_001199551.1/1;CC=c.*69C>G;VC=3UTR;Gene=CIDEC/NM_001199552.1/0;CC=c.*69C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:31:29:0:0:15,16:491,475:46.94,0.00:42.61,0.00:4.33,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:45.7,4.8:0,0:0,0:48,47:103,104:29,31:NM_001199623.1(CIDEC) c.*69C>G,-:0.24,-:NOT_FOUND,- 3 9908981 . C . . NT END=9911564;NT GT ./. 3 9911754 . C . . NT END=9911846;NT GT ./. 3 9912007 . C . . NT END=9912128;NT GT ./. 3 9912159 . C . . NT END=9918749;NT GT ./. 3 9918904 . C . . NT END=9920116;NT GT ./. 3 9920196 . C . . NT END=9920462;NT GT ./. 3 9920477 . C . . NT END=9932406;NT GT ./. 3 9932337 rs279558 G C 218 nt VT=SNV;PN=A;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3768,C/0.6232;PC=0.001;Gene=JAGN1/NM_032492.3/1;CC=c.-70G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:A,C:59:56:0:0:1,58:11,1906:0.20,217.82:0.00,174.98:0.20,42.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:84.0,41.0:0,0:0,0:43,30:102,120:0,19:NM_032492.3(JAGN1) c.-70G>C,NM_032492.3(JAGN1) c.-70G>C:0.61,0.61:NOT_FOUND,NOT_FOUND 3 9932496 . G . . NT END=9934598;NT GT ./. 3 9934428 rs2279795 T C 8 end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7694,C/0.2306;PC=0.315;Gene=JAGN1/NM_032492.3/1;CC=c.90-171T>C;VC=Intron;DM=JAGN1/Jagunal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:C,T:7:7:0:0:3,4:88,133:8.15,0.00:8.15,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:57.0,12.0:0,0:0,0:6,22:141,128:1,12:NM_032492.3(JAGN1) c.90-171T>C,-:0.25,-:0.115199,- 3 9934605 rs279553 T C 206 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.3123,C/0.6877;PC=0.073;Gene=JAGN1/NM_032492.3/1;CC=c.96T>C;ProtCh=p.T32=;VC=Silent;DM=JAGN1/Jagunal GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:C:59:54:0:0:59:1779:205.87:159.92:45.95:1.00:1.00:1.00:60:39.0:0:0:46:98:29:NM_032492.3(JAGN1) c.96T>C (p.(=)),NM_032492.3(JAGN1) c.96T>C (p.(=)):0.68,0.68:0.687683,0.687683 3 9935062 . A . . NT END=9944299;NT GT ./. 3 9935263 rs279543 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.623,G/0.377;Gene=JAGN1/NM_032492.3/1;CC=c.*202A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,G:12:0:0:0:8,4:237,139:0.00,12.50:0.00,0.00:0.00,12.50:0.00,0.80:0.00,0.00:0.00,0.80:60,60:5.1,34.8:0,0:0,0:90,93:61,57:15,20:-,NM_032492.3(JAGN1) c.*202A>G:-,0.37:-,0.501752 3 9944167 rs279589 G A 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7131,A/0.2869 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:26:26:0:0:13,1,12:427,9,379:41.38,0.04,0.00:41.38,0.04,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:34.5,124.0,16.0:0,0,0:0,0,0:48,60,59:102,81,91:20,0,16:NM_153483.2(IL17RE) c.-4-u129G>A,-:0.28,-:NOT_FOUND,- 3 9944377 . G . . NT END=9944511;NT GT ./. 3 9944749 . G . . NT END=9945080;NT GT ./. 3 9944937 rs279588 G T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.601,T/0.399;PC=0.278;Gene=IL17RE/NM_153483.2/1;CC=c.253-144G>T;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.133-144G>T;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.133-144G>T;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.-81+189G>T;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:G,T:10:5:0:0:4,6:133,174:0.00,17.33:0.00,9.67:0.00,7.66:0.00,0.99:0.00,0.78:0.00,0.78:60,60:3.5,60.3:0,0:0,0:54,69:96,80:10,42:-,NM_153483.2(IL17RE) c.253-144G>T:-,0.38:-,NOT_FOUND 3 9945097 . G . . NT END=9945715;NT GT ./. 3 9945739 . C T 91 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=76;Gene=IL17RE/NM_153483.2/1;CC=c.292C>T;ProtCh=p.R98C;VC=Missense;Gene=IL17RE/NM_001193380.1/0;CC=c.172C>T;ProtCh=p.R58C;VC=Missense;Gene=IL17RE/NM_153480.1/0;CC=c.172C>T;ProtCh=p.R58C;VC=Missense;Gene=IL17RE/NM_153481.1/0;CC=c.-81+991C>T;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:61:0:0:46,30:1438,993:0.00,91.50:0.00,56.16:0.00,35.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,40.9:0,0:0,0:71,75:73,75:36,31:-,NM_153483.2(IL17RE) c.292C>T (p.Arg98Cys):-,NOT_FOUND:-,NOT_FOUND 3 9945836 . G . . NT END=9948047;NT GT ./. 3 9946023 rs375446036 T TA 25 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5525,TA/0.4475,TAT/.;DB;DBA=NA;PAF=NA;NP=755;PC=0.139;Gene=IL17RE/NM_153483.2/1;CC=c.388+188_388+189insA;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.268+188_268+189insA;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.268+188_268+189insA;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.-81+1275_-81+1276insA;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:T,TA:12:0:8:0:4,8:134,244:0.00,24.90:0.00,0.00:0.00,24.90:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.0,20.2:0,0:0,0:71,78:80,72:32,24:-,NM_153483.2(IL17RE) c.388+188_388+189insA:-,0.43:-,NOT_FOUND 3 9947864 rs279583 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5407,C/0.4593;Gene=IL17RE/NM_153483.2/1;CC=c.389-184T>C;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.269-184T>C;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.269-184T>C;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.-80-184T>C;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:5:5:0:0:4,1:141,32:14.92,0.00:12.93,0.00:1.99,0.00:0.96,0.00:0.96,0.00:0.87,0.00:60,60:61.2,0.0:0,0:0,0:61,78:89,72:28,0:NM_153483.2(IL17RE) c.389-184T>C,-:0.44,-:NOT_FOUND,- 3 9947898 rs279582 T A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5461,A/0.4539;PC=0.002;Gene=IL17RE/NM_153483.2/1;CC=c.389-150T>A;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.269-150T>A;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.269-150T>A;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.-80-150T>A;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,T:8:8:0:0:5,3:172,83:17.30,0.00:15.47,0.00:1.84,0.00:0.97,0.00:0.97,0.00:0.75,0.00:60,60:68.8,13.0:0,0:0,0:59,17:92,133:28,3:NM_153483.2(IL17RE) c.389-150T>A,-:0.44,-:NOT_FOUND,- 3 9947997 rs279581 C T 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5443,T/0.4557;PC=0.003;Gene=IL17RE/NM_153483.2/1;CC=c.389-51C>T;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.269-51C>T;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.269-51C>T;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.-80-51C>T;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:26:23:0:0:14,1,11:481,10,327:0.00,0.06,30.48:0.00,0.10,20.81:0.00,-0.04,9.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:5.0,90.0,38.6:0,0,0:0,0,0:45,24,62:106,126,88:23,0,33:-,NM_153483.2(IL17RE) c.389-51C>T:-,0.44:-,0.574669 3 9948146 . G . . NT END=9948389;NT GT ./. 3 9948241 rs279580 G A 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.6192,A/0.3808;Gene=IL17RE/NM_153483.2/1;CC=c.486+96G>A;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.366+96G>A;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.366+96G>A;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.18+96G>A;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:19:0:0:15,18:456,602:42.84,0.00:31.76,0.00:11.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,5.4:0,0:0,0:35,97:114,54:31,26:NM_153483.2(IL17RE) c.486+96G>A,-:0.38,-:NOT_FOUND,- 3 9948550 . G . . NT END=9948644;NT GT ./. 3 9948785 . G . . NT END=9949922;NT GT ./. 3 9949992 . G . . NT END=9950900;NT GT ./. 3 9950968 . G . . NT END=9952548;NT GT ./. 3 9952706 rs279572 A G 131 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.5731,G/0.4269;PC=0.004;Gene=IL17RE/NM_153483.2/1;CC=c.1080A>G;ProtCh=p.T360=;VC=Silent;Gene=IL17RE/NM_001193380.1/0;CC=c.960A>G;ProtCh=p.T320=;VC=Silent;Gene=IL17RE/NM_153480.1/0;CC=c.960A>G;ProtCh=p.T320=;VC=Silent;Gene=IL17RE/NM_153481.1/0;CC=c.612A>G;ProtCh=p.T204=;VC=Silent;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:97:61:0:0:52,45:1748,1391:0.00,131.41:0.00,55.46:0.00,75.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,52.4:0,0:0,0:68,75:68,62:29,37:-,NM_153483.2(IL17RE) c.1080A>G (p.(=)):-,0.43:-,0.565662 3 9952725 . G . . NT END=9952810;NT GT ./. 3 9952788 rs279571 T C 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.5561,C/0.4439;Gene=IL17RE/NM_153483.2/1;CC=c.1099-23T>C;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.979-23T>C;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.979-23T>C;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.631-23T>C;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:83:47:0:0:1,34,48:11,991,1533:-0.10,91.04,0.00:-0.12,36.41,0.00:0.02,54.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:146.0,43.9,7.7:0,0,0:0,0,0:49,66,59:67,84,91:0,34,35:NM_153483.2(IL17RE) c.1099-23T>C,-:0.44,-:0.569122,- 3 9952859 . G . . NT END=9952938;NT GT ./. 3 9952985 . G . . NT END=9953126;NT GT ./. 3 9953282 . G . . NT END=9955639;NT GT ./. 3 9953470 rs279570 T C 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6356,C/0.3644;PC=0.076;Gene=IL17RE/NM_153483.2/1;CC=c.1347+189T>C;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.1227+189T>C;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.1227+189T>C;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.879+189T>C;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:C,T:11:0:0:0:5,6:171,196:16.19,0.00:0.00,0.00:16.19,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:36.4,1.5:0,0:0,0:138,122:12,28:8,17:NM_153483.2(IL17RE) c.1347+189T>C,-:0.37,-:NOT_FOUND,- 3 9955709 . G . . NT END=9956085;NT GT ./. 3 9956279 rs455863 G A 150 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.638,A/0.362;Gene=IL17RE/NM_153483.2/1;CC=c.1464G>A;ProtCh=p.P488=;VC=Silent;Gene=IL17RE/NM_001193380.1/0;CC=c.1417G>A;ProtCh=p.G473R;VC=Missense;Gene=IL17RE/NM_153480.1/0;CC=c.1344G>A;ProtCh=p.P448=;VC=Silent;Gene=IL17RE/NM_153481.1/0;CC=c.996G>A;ProtCh=p.P332=;VC=Silent;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/SEFIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:103:63:0:0:48,55:1582,1681:150.24,0.00:61.03,0.00:89.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,9.7:0,0:0,0:98,84:46,59:27,29:NM_153483.2(IL17RE) c.1464G>A (p.(=)),-:0.37,-:0.492696,- 3 9956284 . G . . NT END=9956362;NT GT ./. 3 9956462 . G . . NT END=9956934;NT GT ./. 3 9956894 rs693802 C T 126 nt VT=SNV;PN=C;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.6256,T/0.3744;Gene=IL17RE/NM_153483.2/1;CC=c.1568-41C>T;VC=Intron;Gene=IL17RE/NM_001193380.1/0;CC=c.1521-41C>T;VC=Intron;Gene=IL17RE/NM_153480.1/0;CC=c.1448-41C>T;VC=Intron;Gene=IL17RE/NM_153481.1/0;CC=c.1100-41C>T;VC=Intron;Gene=IL17RE/NR_104198.1/0;VC=NonCoding;DM=IL17RE/SEFIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:102:90:0:0:60,1,41:1814,5,1356:0.00,-0.24,125.55:0.00,-0.17,102.21:0.00,-0.07,23.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.8,74.0,39.4:0,0,0:0,0,0:55,73,64:91,78,87:37,0,42:-,NM_153483.2(IL17RE) c.1568-41C>T:-,0.37:-,0.414755 3 9957492 . G . . NT END=9958999;NT GT ./. 3 9958767 rs456520 A T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5741,T/0.4259;PC=0.956;Gene=IL17RC/NM_001203263.1/0;CC=c.-233A>T;VC=5UTR;Gene=IL17RC/NM_001203264.1/0;CC=c.-233A>T;VC=5UTR;Gene=IL17RC/NM_001203265.1/0;CC=c.-233A>T;VC=5UTR;Gene=IL17RC/NM_032732.5/0;CC=c.-233A>T;VC=5UTR;Gene=IL17RC/NM_153460.3/0;CC=c.-233A>T;VC=5UTR;Gene=IL17RC/NR_037807.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,T:4:4:0:0:2,2:67,71:0.00,6.85:0.00,6.85:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:41.5,73.0:0,0:0,0:55,54:95,96:22,29:-,NM_153461.3(IL17RC) c.-218-u15A>T:-,0.43:-,NOT_FOUND 3 9958874 rs76781354 C G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.995,G/0.004992;NP=5;Gene=IL17RC/NM_001203263.1/0;CC=c.-126C>G;VC=5UTR;Gene=IL17RC/NM_001203264.1/0;CC=c.-126C>G;VC=5UTR;Gene=IL17RC/NM_001203265.1/0;CC=c.-126C>G;VC=5UTR;Gene=IL17RC/NM_032732.5/0;CC=c.-126C>G;VC=5UTR;Gene=IL17RC/NM_153460.3/0;CC=c.-126C>G;VC=5UTR;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.-126C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,G:15:15:0:0:6,9:172,269:0.00,26.82:0.00,26.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.5,55.4:0,0:0,0:18,39:132,83:12,25:-,NM_153461.3(IL17RC) c.-126C>G:-,0.01:-,NOT_FOUND 3 9959318 . G . . NT END=9959396;NT GT ./. 3 9959419 . G . . NT END=9959606;NT GT ./. 3 9959760 . G . . NT END=9960018;NT GT ./. 3 9960070 rs708567 C T 72 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.613,T/0.387;Gene=IL17RC/NM_001203263.1/0;CC=c.332C>T;ProtCh=p.S111L;VC=Missense;Gene=IL17RC/NM_001203264.1/0;CC=c.332C>T;ProtCh=p.S111L;VC=Missense;Gene=IL17RC/NM_001203265.1/0;CC=c.332C>T;ProtCh=p.S111L;VC=Missense;Gene=IL17RC/NM_032732.5/0;CC=c.332C>T;ProtCh=p.S111L;VC=Missense;Gene=IL17RC/NM_153460.3/0;CC=c.332C>T;ProtCh=p.S111L;VC=Missense;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.545C>T;ProtCh=p.S182L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:43:0:0:36,25:1071,783:0.00,72.32:0.00,46.90:0.00,25.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.7,37.8:0,0:0,0:61,64:83,86:34,30:-,NM_153461.3(IL17RC) c.545C>T (p.Ser182Leu):-,0.39:-,0.517072 3 9960094 . G . . NT END=9960183;NT GT ./. 3 9960294 . G . . NT END=9962174;NT GT ./. 3 9961952 rs34984419 GC G 15 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GC/0.6971,G/0.3029;NP=68;PC=0.001;Gene=IL17RC/NM_001203263.1/0;CC=c.466-221delC;VC=Intron;Gene=IL17RC/NM_001203264.1/0;CC=c.466-221delC;VC=Intron;Gene=IL17RC/NM_001203265.1/0;CC=c.466-221delC;VC=Intron;Gene=IL17RC/NM_032732.5/0;CC=c.466-221delC;VC=Intron;Gene=IL17RC/NM_153460.3/0;CC=c.466-221delC;VC=Intron;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.679-221delC;VC=Intron;DM=IL17RC/IL17_R_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:GC,G:8:8:0:5:3,5:100,149:0.00,14.98:0.00,14.98:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,70:10.0,24.2:0,0:0,0:45,25:106,124:4,25:-,NM_153461.3(IL17RC) c.679-222delC:-,0.34:-,NOT_FOUND 3 9962157 rs783494 T C 81 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.5849,C/0.4151;Gene=IL17RC/NM_001203263.1/0;CC=c.466-18T>C;VC=Intron;Gene=IL17RC/NM_001203264.1/0;CC=c.466-18T>C;VC=Intron;Gene=IL17RC/NM_001203265.1/0;CC=c.466-18T>C;VC=Intron;Gene=IL17RC/NM_032732.5/0;CC=c.466-18T>C;VC=Intron;Gene=IL17RC/NM_153460.3/0;CC=c.466-18T>C;VC=Intron;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.679-18T>C;VC=Intron;DM=IL17RC/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:52:48:0:0:28,24:838,841:81.48,0.00:60.12,0.00:21.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,6.5:0,0:0,0:51,72:100,78:38,39:NM_153461.3(IL17RC) c.679-18T>C,-:0.42,-:0.543783,- 3 9962287 . G . . NT END=9962608;NT GT ./. 3 9962654 . G . . NT END=9965564;NT GT ./. 3 9962816 rs376511 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4121,G/0.5879;Gene=IL17RC/NM_001203263.1/0;CC=c.622+163A>G;VC=Intron;Gene=IL17RC/NM_001203264.1/0;CC=c.622+163A>G;VC=Intron;Gene=IL17RC/NM_001203265.1/0;CC=c.577+530A>G;VC=Intron;Gene=IL17RC/NM_032732.5/0;CC=c.577+530A>G;VC=Intron;Gene=IL17RC/NM_153460.3/0;CC=c.622+163A>G;VC=Intron;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.835+163A>G;VC=Intron;DM=IL17RC/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:52.5:0:0:109:41:5:NM_153461.3(IL17RC) c.835+163A>G,NM_153461.3(IL17RC) c.835+163A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 3 9965976 . G . . NT END=9969849;NT GT ./. 3 9969905 . G . . NT END=9969988;NT GT ./. 3 9969932 rs57179462 TGG T 86 nt VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=TGG/0.3822,T/0.6178;NP=2138;PC=0.001;Gene=IL17RC/NM_001203263.1/0;CC=c.877+31_877+32delGG;VC=Intron;Gene=IL17RC/NM_001203264.1/0;CC=c.877+31_877+32delGG;VC=Intron;Gene=IL17RC/NM_001203265.1/0;CC=c.832+31_832+32delGG;VC=Intron;Gene=IL17RC/NM_032732.5/0;CC=c.832+31_832+32delGG;VC=Intron;Gene=IL17RC/NM_153460.3/0;CC=c.877+31_877+32delGG;VC=Intron;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.1090+31_1090+32delGG;VC=Intron;DM=IL17RC/IL17_R_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGG,T:84:61:0:32:53,31:1671,957:0.00,86.48:0.00,62.53:0.00,23.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.2,20.2:0,0:0,0:60,50:89,92:40,32:-,NM_153461.3(IL17RC) c.1090+29_1090+30delGG:-,NOT_FOUND:-,0.447364 3 9970031 rs279549 A G 428 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=A/0.002596,G/0.9974;NP=3434;Gene=IL17RC/NM_001203263.1/0;CC=c.920A>G;ProtCh=p.Q307R;VC=Missense;Gene=IL17RC/NM_001203264.1/0;CC=c.920A>G;ProtCh=p.Q307R;VC=Missense;Gene=IL17RC/NM_001203265.1/0;CC=c.875A>G;ProtCh=p.Q292R;VC=Missense;Gene=IL17RC/NM_032732.5/0;CC=c.875A>G;ProtCh=p.Q292R;VC=Missense;Gene=IL17RC/NM_153460.3/0;CC=c.920A>G;ProtCh=p.Q307R;VC=Missense;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.1133A>G;ProtCh=p.Q378R;VC=Missense;DM=IL17RC/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:115:82:0:0:115:3729:427.52:222.50:205.02:1.00:1.00:1.00:60:45.6:0:0:55:92:32:NM_153461.3(IL17RC) c.=,NM_153461.3(IL17RC) c.=:1,1:0.995386,0.995386 3 9970121 rs115419420 C T 191 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=114;DB;DBA=NA;PAF=C/0.9846,T/0.01538;PC=0.941;Gene=IL17RC/NM_001203263.1/0;CC=c.1010C>T;ProtCh=p.P337L;VC=Missense;Gene=IL17RC/NM_001203264.1/0;CC=c.1010C>T;ProtCh=p.P337L;VC=Missense;Gene=IL17RC/NM_001203265.1/0;CC=c.965C>T;ProtCh=p.P322L;VC=Missense;Gene=IL17RC/NM_032732.5/0;CC=c.965C>T;ProtCh=p.P322L;VC=Missense;Gene=IL17RC/NM_153460.3/0;CC=c.1010C>T;ProtCh=p.P337L;VC=Missense;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.1223C>T;ProtCh=p.P408L;VC=Missense;DM=IL17RC/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:114:76:0:0:1,52,61:10,1566,1956:-0.11,0.00,190.87:0.00,0.00,101.47:-0.12,0.00,89.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:49.0,26.0,52.5:0,0,0:0,0,0:102,96,87:48,52,59:0,28,34:-,NM_153461.3(IL17RC) c.1223C>T (p.Pro408Leu):-,0.02:-,0.034369 3 9970171 . G . . NT END=9970263;NT GT ./. 3 9970315 . G . . NT END=9971535;NT GT ./. 3 9971582 . G . . NT END=9971711;NT GT ./. 3 9971834 . G . . NT END=9972083;NT GT ./. 3 9972144 . G . . NT END=9972578;NT GT ./. 3 9972493 rs279545 G A 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.3778,A/0.6222;PC=0.013;Gene=IL17RC/NM_001203263.1/0;CC=c.1339-86G>A;VC=Intron;Gene=IL17RC/NM_001203264.1/0;CC=c.1288-86G>A;VC=Intron;Gene=IL17RC/NM_001203265.1/0;CC=c.1243-86G>A;VC=Intron;Gene=IL17RC/NM_032732.5/0;CC=c.1294-86G>A;VC=Intron;Gene=IL17RC/NM_153460.3/0;CC=c.1339-86G>A;VC=Intron;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.1552-86G>A;VC=Intron;DM=IL17RC/IL17_R_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:29:0:0:17,14:500,452:48.77,0.00:38.89,0.00:9.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,16.6:0,0:0,0:48,58:103,93:36,24:NM_153461.3(IL17RC) c.1552-86G>A,-:0.64,-:NOT_FOUND,- 3 9972628 . G . . NT END=9974291;NT GT ./. 3 9974388 . G . . NT END=9974503;NT GT ./. 3 9974543 . G . . NT END=9974636;NT GT ./. 3 9975247 rs183956 C G 346 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.01278,G/0.9872;PC=0.018;Gene=IL17RC/NM_001203263.1/0;CC=c.2094C>G;ProtCh=p.G698=;VC=Silent;Gene=IL17RC/NM_001203264.1/0;CC=c.2043C>G;ProtCh=p.G681=;VC=Silent;Gene=IL17RC/NM_001203265.1/0;CC=c.2037C>G;ProtCh=p.G679=;VC=Silent;Gene=IL17RC/NM_032732.5/0;CC=c.2088C>G;ProtCh=p.G696=;VC=Silent;Gene=IL17RC/NM_153460.3/0;CC=c.2133C>G;ProtCh=p.G711=;VC=Silent;Gene=IL17RC/NR_037807.1/0;VC=NonCoding;Gene=IL17RC/NM_153461.3/1;CC=c.2346C>G;ProtCh=p.G782=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:98:55:0:0:2,96:13,3027:0.00,345.59:0.00,119.19:0.00,226.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:106.5,48.4:0,0:0,0:93,96:57,45:40,29:NM_153461.3(IL17RC) c.2346C>G (p.(=)),NM_153461.3(IL17RC) c.2346C>G (p.(=)):0.99,0.99:0.987961,0.987961 3 9975278 . A . . NT END=9976122;NT GT ./. 3 9975353 rs279551 A G 127 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.002596,G/0.9974;NP=965 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:G:35:5:0:0:35:1100:126.57:11.91:114.66:1.00:1.00:1.00:60:56.9:0:0:109:40:26:NM_001031717.3(CRELD1) c.-99-u172A>G,NM_001031717.3(CRELD1) c.-99-u172A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 9976159 rs279552 A G 332 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.004393,G/0.9956;NP=3457;Gene=CRELD1/NM_015513.4/0;CC=c.37A>G;ProtCh=p.M13V;VC=Missense;Gene=CRELD1/NM_001031717.3/1;CC=c.37A>G;ProtCh=p.M13V;VC=Missense;Gene=CRELD1/NM_001077415.2/0;CC=c.37A>G;ProtCh=p.M13V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:87:62:0:0:87:2910:332.44:171.92:160.52:1.00:1.00:1.00:60:40.1:0:0:68:78:34:NM_001031717.3(CRELD1) c.=,NM_001031717.3(CRELD1) c.=:0.99,0.99:0.991465,0.991465 3 9976297 . G . . NT END=9976518;NT GT ./. 3 9976602 . G . . NT END=9979245;NT GT ./. 3 9979357 . G . . NT END=9979698;NT GT ./. 3 9979660 rs2302786 A G 59 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.5952,G/0.4048;Gene=CRELD1/NM_015513.4/0;CC=c.369-39A>G;VC=Intron;Gene=CRELD1/NM_001031717.3/1;CC=c.369-39A>G;VC=Intron;Gene=CRELD1/NM_001077415.2/0;CC=c.369-39A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:33:0:0:18,20:568,611:0.00,59.22:0.00,38.63:0.00,20.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,46.1:0,0:0,0:38,25:102,126:25,21:-,NM_001031717.3(CRELD1) c.369-39A>G:-,0.39:-,0.431098 3 9979791 . G . . NT END=9982533;NT GT ./. 3 9982445 rs55862344 A G 27 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7923,G/0.2077;PC=0.003;Gene=CRELD1/NM_015513.4/0;CC=c.461-89A>G;VC=Intron;Gene=CRELD1/NM_001031717.3/1;CC=c.461-89A>G;VC=Intron;Gene=CRELD1/NM_001077415.2/0;CC=c.461-89A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:8,10:221,271:0.00,26.54:0.00,25.18:0.00,1.36:0.00,1.00:0.00,1.00:0.00,0.92:60,60:24.6,43.6:0,0:0,0:43,39:94,110:28,25:-,NM_001031717.3(CRELD1) c.461-89A>G:-,0.17:-,NOT_FOUND 3 9982711 . G . . NT END=9982794;NT GT ./. 3 9982891 . G . . NT END=9984496;NT GT ./. 3 9984581 . G . . NT END=9984760;NT GT ./. 3 9984857 . G . . NT END=9985064;NT GT ./. 3 9985200 . G . . NT END=9985358;NT GT ./. 3 9985457 rs9878047 T C 101 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.619,C/0.381;Gene=CRELD1/NM_015513.4/0;CC=c.1048+258T>C;VC=Intron;Gene=CRELD1/NM_001031717.3/1;CC=c.1049-129T>C;VC=Intron;Gene=CRELD1/NM_001077415.2/0;CC=c.1048+258T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:78:50:0:0:33,45:1088,1417:101.49,0.00:45.70,0.00:55.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,8.3:0,0:0,0:68,54:82,86:34,30:NM_001031717.3(CRELD1) c.1049-129T>C,-:0.37,-:NOT_FOUND,- 3 9985570 . t . . NT END=9986048;NT GT ./. 3 9985656 rs3774207 C T 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.62,T/0.38;Gene=CRELD1/NM_015513.4/0;CC=c.1049-393C>T;VC=Intron;Gene=CRELD1/NM_001031717.3/1;CC=c.1119C>T;ProtCh=p.H373=;VC=Silent;Gene=CRELD1/NM_001077415.2/0;CC=c.1049-393C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:2:0:0:9,12:258,373:0.00,36.80:0.00,2.67:0.00,34.13:0.00,1.00:0.00,0.85:0.00,1.00:60,60:13.8,35.3:0,0:0,0:47,110:103,40:26,38:-,NM_001031717.3(CRELD1) c.1119C>T (p.(=)):-,0.37:-,0.405505 3 9986104 rs114286445 G A 126 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.9966,A/0.003395;NP=73;PC=1.000;Gene=CRELD1/NM_015513.4/0;CC=c.1104G>A;ProtCh=p.Q368=;VC=Silent;Gene=CRELD1/NM_001031717.3/1;CC=c.*29G>A;VC=3UTR;Gene=CRELD1/NM_001077415.2/0;CC=c.1104G>A;ProtCh=p.Q368=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:94:75:0:0:41,1,52:1340,10,1704:125.86,-0.14,0.00:65.30,-0.04,0.00:60.56,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:42.5,109.0,16.4:0,0,0:0,0,0:68,39,78:82,98,72:38,0,30:NM_001031717.3(CRELD1) c.*29G>A,-:0.01,-:0.009534,- 3 9986264 . T . . NT END=9987910;NT GT ./. 3 9989686 . C . . NT END=9990440;NT GT ./. 3 9990598 . C . . NT END=9990783;NT GT ./. 3 9990741 rs115898811 C T 104 nt VT=SNV;PN=T;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.9822,T/0.01777;Gene=PRRT3/NM_207351.3/1;CC=c.1015+44G>A;VC=Intron;Gene=PRRT3-AS1/NR_046734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:71:52:0:0:36,1,34:1175,11,1084:0.00,-0.05,103.56:0.00,0.03,67.93:0.00,-0.08,35.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.4,81.0,61.2:0,0,0:0,0,0:55,114,44:96,36,106:32,0,24:-,NM_207351.3(PRRT3) c.1015+44G>A:-,0.02:-,0.02793 3 9990800 rs59465469 G C 178 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.6186,A/.,C/0.3814,T/.;Gene=PRRT3/NM_207351.3/1;CC=c.1000C>G;ProtCh=p.R334G;VC=Missense;Gene=PRRT3-AS1/NR_046734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:98:74:0:0:55,42,1:1804,1287,12:177.89,0.00,-0.03:114.19,0.00,0.04:63.70,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:57.1,14.0,12.0:0,0,0:0,0,0:66,77,109:82,73,42:34,38,0:NM_207351.3(PRRT3) c.1000C>G (p.Arg334Gly),-:0.37,-:0.387416,- 3 9991101 rs55847233 C G 167 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.6176,G/0.3824;PC=0.897;Gene=PRRT3/NM_207351.3/1;CC=c.699G>C;ProtCh=p.L233F;VC=Missense;Gene=PRRT3-AS1/NR_046734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:131:83:0:0:75,56:2509,1796:0.00,167.47:0.00,75.66:0.00,91.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,60.4:0,0:0,0:83,65:65,85:31,44:-,NM_207351.3(PRRT3) c.699G>C (p.Leu233Phe):-,0.37:-,0.393531 3 9991163 rs55847610 A G 147 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=A/0.618,G/0.382;PC=0.001;Gene=PRRT3/NM_207351.3/1;CC=c.637T>C;ProtCh=p.S213P;VC=Missense;Gene=PRRT3-AS1/NR_046734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:106:66:0:0:59,47:1860,1562:0.00,147.05:0.00,87.84:0.00,59.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,58.8:0,0:0,0:93,68:58,82:30,29:-,NM_207351.3(PRRT3) c.637T>C (p.Ser213Pro):-,0.37:-,0.385744 3 9991388 rs279601 G C 392 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.03295,C/0.9671;PC=0.036;Gene=PRRT3/NM_207351.3/1;CC=c.412C>G;ProtCh=p.Q138E;VC=Missense;Gene=PRRT3-AS1/NR_046734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:104:76:0:0:104:3420:391.50:230.55:160.95:1.00:1.00:1.00:60:39.0:0:0:81:68:38:NM_207351.3(PRRT3) c.412C>G (p.Gln138Glu),NM_207351.3(PRRT3) c.412C>G (p.Gln138Glu):0.98,0.98:0.98055,0.98055 3 9991800 . G . . NT END=10010974;NT GT ./. 3 9991858 . T TA 17 rn VT=INS;SST=Single;DP=47;NP=2;PC=0.970;Gene=PRRT3/NM_207351.3/1;CC=c.-57-3dupT;VC=Intron;Gene=PRRT3-AS1/NR_046734.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:T,TA,D:46:17:7:2:38,7,1:1192,219,50:0.00,16.80,0.69:0.00,6.96,-0.89:0.00,9.84,1.58:0.00,0.93,0.00:0.00,0.87,0.00:0.00,0.99,0.00:60,60,60:11.4,1.7,68.0:0,0,1:0,0,0:110,118,104:40,33,47:19,18,15:-,NR_046734.1(PRRT3-AS1) n.430+1705_430+1706insA:-,NOT_FOUND:-,NOT_FOUND 3 10011486 . C . . NT END=10012265;NT GT ./. 3 10012346 . C . . NT END=10015311;NT GT ./. 3 10012551 rs66559400 G A 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7582,A/0.2418;Gene=EMC3/NM_018447.2/1;CC=c.495-206C>T;VC=Intron;DM=EMC3/DUF106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:52:A,G:10:0:0:0:8,2:243,66:25.94,0.00:0.00,0.00:25.94,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.1,64.0:0,0:0,0:85,107:65,44:40,37:NM_018447.2(EMC3) c.495-206C>T,-:0.24,-:NOT_FOUND,- 3 10012611 rs542659323 C CT 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7654,CT/0.2346;DB;DBA=NA;PAF=C/0.7654,CT/0.2346;NP=1;NP=109;Gene=EMC3/NM_018447.2/1;CC=c.495-267_495-266insA;VC=Intron;DM=EMC3/DUF106;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,CT:7:0:3:0:4,3:107,90:0.00,8.36:0.00,0.00:0.00,8.36:0.00,0.69:0.00,0.00:0.00,0.69:60,60:45.0,50.0:1,0:0,0:102,95:39,50:32,21:-,NM_018447.2(EMC3) c.495-267_495-266insA:-,NOT_FOUND:-,NOT_FOUND 3 10015110 rs7629241 T C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6126,C/0.3874;PC=0.002;Gene=EMC3/NM_018447.2/1;CC=c.494+202A>G;VC=Intron;DM=EMC3/DUF106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:5:5:0:0:4,1:127,33:13.52,0.00:11.68,0.00:1.84,0.00:0.96,0.00:0.96,0.00:0.87,0.00:60,60:37.0,28.0:0,0:0,0:31,22:119,129:10,0:NM_018447.2(EMC3) c.494+202A>G,-:0.37,-:NOT_FOUND,- 3 10015394 . C . . NT END=10016067;NT GT ./. 3 10015437 rs3732967 T C 66 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.7582,C/0.2418;Gene=EMC3/NM_018447.2/1;CC=c.413-44A>G;VC=Intron;DM=EMC3/DUF106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:18:0:0:20,15:673,477:66.48,0.00:24.10,0.00:42.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,1.3:0,0:0,0:107,106:43,31:25,20:NM_018447.2(EMC3) c.413-44A>G,-:0.24,-:0.239197,- 3 10016173 . C . . NT END=10018640;NT GT ./. 3 10016305 rs35694837 C T 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.7588,T/0.2412;Gene=EMC3/NM_018447.2/1;CC=c.308-133G>A;VC=Intron;DM=EMC3/DUF106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,T:13:1:0:0:3,10:95,343:0.00,36.02:0.00,-0.64:0.00,36.66:0.00,1.00:0.00,0.85:0.00,1.00:60,60:0.0,46.4:0,0:0,0:76,85:73,66:13,23:-,NM_018447.2(EMC3) c.308-133G>A:-,0.24:-,NOT_FOUND 3 10018735 . C . . NT END=10019072;NT GT ./. 3 10018739 rs540760968 TA T 16 idl,rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=83;PC=0.446;Gene=EMC3/NM_018447.2/1;CC=c.214-6delT;VC=Intron;DM=EMC3/DUF106;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:TA,I,T:31:17:5:6:20,5,6:532,158,188:0.00,12.72,15.54:0.00,3.97,7.79:0.00,8.75,7.75:0.00,0.00,0.90:0.00,0.00,0.94:0.00,0.00,0.98:60,60,60:24.7,0.0,2.0:0,0,0:0,0,0:120,71,112:26,41,38:25,10,9:-,NM_018447.2(EMC3) c.214-6delT:-,NOT_FOUND:-,NOT_FOUND 3 10019131 . C . . NT END=10028190;NT GT ./. 3 10028220 rs146540747 C T 278 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=175;DB;DBA=NA;PAF=C/0.9966,T/0.003395;NP=73;PC=1.000;Gene=EMC3/NM_018447.2/1;CC=c.126G>A;ProtCh=p.K42=;VC=Silent;DM=EMC3/DUF106 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:175:149:0:0:80,95:2648,2857:0.00,278.31:0.00,182.15:0.00,96.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,44.4:0,0:0,0:54,59:92,89:30,31:-,NM_018447.2(EMC3) c.126G>A (p.(=)):-,0.01:-,0.009534 3 10028641 . t . . NT END=10028904;NT GT ./. 3 10028690 rs113360519 G A 101 nt VT=SNV;PN=G;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=NA;PC=0.009;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:23:0:0:32,50:1095,1562:100.95,0.00:16.24,0.00:84.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,12.9:0,0:0,0:95,111:55,34:26,24:XR_110030.1(LOC442075) n.96G>A,-:0.04,-:NOT_FOUND,- 3 10028897 rs57871616 C CAA 58 sb;idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.043;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CAA,D:55:66:30:15:1,28,20,6:34,873,941,367:1.86,0.00,58.31,14.95:-0.14,0.00,59.03,13.34:2.00,0.00,-0.71,1.61:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.96,0.00:60,60,60,60:105.0,27.7,77.2,31.7:1,0,10,6:0,0,0,0:30,102,29,25:121,35,115,126:0,42,16,14:-,XR_110030.1(LOC442075) n.304A[21]:-,NOT_FOUND:-,NOT_FOUND 3 10028970 . C . . NT END=10049027;NT GT ./. 3 10028988 rs28366039 C A 195 nt VT=SNV;PN=C;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.8177,A/0.1823;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:137:96:0:0:63,74:2060,2278:195.00,0.00:77.66,0.00:117.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.7,13.0:0,0:0,0:76,80:70,64:36,27:XR_110030.1(LOC442075) n.354+40C>A,-:0.18,-:NOT_FOUND,- 3 10029289 rs3755783 A G 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8209,G/0.1791;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:A,G:7:0:0:0:4,3:126,82:0.00,7.54:0.00,0.00:0.00,7.54:0.00,0.69:0.00,0.00:0.00,0.69:60,60:11.2,66.0:0,0:0,0:71,137:79,13:19,6:-,XR_110030.1(LOC442075) n.354+341A>G:-,0.18:-,NOT_FOUND 3 10030236 rs496181 T C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.7849,C/0.2151;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:12:0:0:8,9:248,296:23.49,0.00:19.74,0.00:3.75,0.00:0.99,0.00:1.00,0.00:0.95,0.00:58,60:35.0,4.7:0,0:0,0:60,58:90,93:30,10:XR_110030.1(LOC442075) n.354+1288T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10030521 rs143539194 T C 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,T:17:3:0:0:5,12:156,384:13.51,0.00:-0.30,0.00:13.82,0.00:0.88,0.00:0.68,0.00:0.99,0.00:27,42:33.6,2.8:0,0:0,0:102,85:48,65:18,33:XR_110030.1(LOC442075) n.354+1573T>C,-:0.1,-:NOT_FOUND,- 3 10034409 rs143609182 G C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9812,C/0.01877;PC=0.001;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:119:C,G:15:14:0:0:4,11:134,358:11.53,0.00:8.48,0.00:3.05,0.00:0.76,0.00:0.97,0.00:0.71,0.00:60,60:45.5,5.0:0,0:0,0:94,26:56,125:12,12:XR_110030.1(LOC442075) n.354+5461G>C,-:0.02,-:NOT_FOUND,- 3 10035634 . C T 9 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;PC=0.005;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:7:7:0:0:4,3:126,99:0.00,9.26:0.00,9.26:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,58:8.2,211.3:0,0:0,0:10,16:139,135:8,2:-,XR_110030.1(LOC442075) n.354+6686C>T:-,NOT_FOUND:-,NOT_FOUND 3 10035648 rs76567496 G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:7:7:0:0:3,4:99,138:9.26,0.00:9.26,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:58,60:211.3,8.2:0,0:0,0:30,24:121,125:2,8:XR_110030.1(LOC442075) n.354+6700G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10035654 rs76766339 C A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,C:8:8:0:0:3,5:99,165:9.03,0.00:9.03,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:58,60:211.3,6.6:0,0:0,0:36,23:115,128:2,15:XR_110030.1(LOC442075) n.354+6706C>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10035655 rs77192182 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:A,G:8:8:0:0:5,3:171,105:0.00,9.63:0.00,9.63:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,58:6.6,211.3:0,0:0,0:24,37:127,114:15,2:-,XR_110030.1(LOC442075) n.354+6707A>G:-,NOT_FOUND:-,NOT_FOUND 3 10035685 rs73814311 T C 33 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=822;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,T:15:15:0:0:10,5:323,168:32.92,0.00:32.92,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:136.2,6.6:0,0:0,0:29,54:120,97:20,15:XR_110030.1(LOC442075) n.354+6737T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10035697 rs72492992 G A 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=1239;PC=0.216;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:13,7:423,243:42.88,0.00:42.88,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:121.5,4.7:0,0:0,0:26,65:125,86:18,19:XR_110030.1(LOC442075) n.354+6749G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10035774 rs62245490 A G 54 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=4;PC=0.014;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:27:0:0:13,17:428,549:0.00,54.07:0.00,48.35:0.00,5.72:0.00,1.00:0.00,1.00:0.00,0.99:60,60:14.8,77.9:0,17:0,0:38,84:113,67:32,20:-,XR_110030.1(LOC442075) n.354+6826A>G:-,NOT_FOUND:-,NOT_FOUND 3 10035778 rs35714562 AAGTCT A 49 nt VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=138;PC=0.004;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAGTCT,A:30:27:0:17:13,17:423,499:0.00,49.09:0.00,43.58:0.00,5.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.0,77.8:0,0:0,0:71,88:80,63:46,20:-,XR_110030.1(LOC442075) n.354+6831_354+6835delAGTCT:-,NOT_FOUND:-,NOT_FOUND 3 10035785 rs201160697 A G 47 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:31:28:0:0:14,16,1:403,481,11:0.00,46.71,0.12:0.00,41.11,0.18:0.00,5.60,-0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.4,74.4,133.0:0,16,1:0,0,0:40,87,133:110,64,9:38,18,0:-,XR_110030.1(LOC442075) n.354+6837A>G:-,NOT_FOUND:-,NOT_FOUND 3 10035896 rs7615088 A T 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.7576,T/0.2424;PC=1.000;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:34:21:0:0:24,1,9:745,10,302:0.00,-0.06,26.10:0.00,-0.15,13.66:0.00,0.09,12.45:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:34.1,68.0,35.1:0,0,0:0,0,0:105,95,77:45,56,73:21,0,32:-,XR_110030.1(LOC442075) n.354+6948A>T:-,0.22:-,NOT_FOUND 3 10035899 rs77213366 A C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=1843;PC=0.991;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:33:21:0:0:25,8:777,272:0.00,23.09:0.00,4.21:0.00,18.88:0.00,0.98:0.00,0.99:0.00,0.99:60,40:19.4,85.4:0,0:0,0:96,117:54,29:27,14:-,XR_110030.1(LOC442075) n.354+6951A>C:-,NOT_FOUND:-,NOT_FOUND 3 10035935 rs374661941 T C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:C,T:23:14:0:0:4,19:132,627:10.49,0.00:1.95,0.00:8.54,0.00:0.69,0.00:0.88,0.00:0.94,0.00:40,60:92.2,17.9:0,0:0,0:137,107:14,41:7,25:XR_110030.1(LOC442075) n.354+6987T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10035942 rs202179865 G T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.452;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:G,T:20:11:0:0:17,3:574,94:0.00,7.16:0.00,-0.46:0.00,7.62:0.00,0.50:0.00,0.77:0.00,0.89:60,40:16.3,101.7:0,0:0,0:101,142:49,9:22,4:-,XR_110030.1(LOC442075) n.354+6994G>T:-,NOT_FOUND:-,NOT_FOUND 3 10036104 rs77030278 T G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:G,T:7:0:0:0:3,4:105,96:9.88,0.00:0.00,0.00:9.88,0.00:0.69,0.00:0.00,0.00:0.69,0.00:41,60:197.7,16.2:0,0:0,0:21,80:127,71:7,26:XR_110030.1(LOC442075) n.354+7156T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 10036106 rs76381208 G T 7 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,T:7:0:0:0:4,3:115,79:0.00,7.25:0.00,0.00:0.00,7.25:0.00,0.69:0.00,0.00:0.00,0.69:60,41:16.2,197.7:0,0:0,0:82,23:69,125:26,7:-,XR_110030.1(LOC442075) n.354+7158G>T:-,NOT_FOUND:-,NOT_FOUND 3 10036137 rs75019234 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:107:C,T:8:1:0:0:3,5:108,141:9.95,0.00:-0.19,0.00:10.14,0.00:0.67,0.00:0.58,0.00:0.95,0.00:41,60:197.7,23.8:0,0:0,0:54,81:94,70:7,51:XR_110030.1(LOC442075) n.354+7189T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10036140 rs75817888 C G 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:C,G:8:1:0:0:5,3:152,105:0.00,9.63:0.00,-0.20:0.00,9.84:0.00,0.67:0.00,0.58:0.00,0.95:60,41:23.8,197.7:0,0:0,0:84,57:67,91:51,7:-,XR_110030.1(LOC442075) n.354+7192C>G:-,NOT_FOUND:-,NOT_FOUND 3 10036166 rs73015284 T C 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=3;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,T:7:1:0:0:3,4:85,108:7.85,0.00:-0.24,0.00:8.09,0.00:0.69,0.00:0.62,0.00:0.95,0.00:41,60:197.7,20.5:0,0:0,0:83,84:65,63:7,31:XR_110030.1(LOC442075) n.354+7218T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10036208 rs147858088 CTCT C 8 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:CTCT,C:5:1:0:3:2,3:48,76:0.00,7.56:0.00,-0.40:0.00,7.96:0.00,0.78:0.00,0.73:0.00,0.97:60,41:27.0,197.7:0,0:0,0:91,125:56,23:9,7:-,XR_110030.1(LOC442075) n.354+7261_354+7263delTCT:-,NOT_FOUND:-,NOT_FOUND 3 10036228 . A C 6 end,nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;Gene=EMC3-AS1/NR_103821.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,C:4:1:0:0:2,2:42,66:0.00,6.37:0.00,-0.28:0.00,6.65:0.00,0.51:0.00,0.67:0.00,0.89:60,41:27.0,191.5:0,0:0,0:111,138:36,6:9,3:-,XR_110030.1(LOC442075) n.354+7280A>C:-,NOT_FOUND:-,NOT_FOUND 3 10048839 rs3732964 C G 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6438,G/0.3562;PC=0.074;Gene=LOC401052/NM_001008737.1/1;CC=c.*189G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,G:12:12:0:0:1,11:33,329:0.00,36.65:0.00,36.65:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,88.5:0,0:0,0:40,37:111,112:0,20:-,NM_001008737.1(LOC401052) c.*189G>C:-,0.34:-,NOT_FOUND 3 10048885 rs3732963 G T 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6446,T/0.3554;PC=0.001;Gene=LOC401052/NM_001008737.1/1;CC=c.*143C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:21:0:0:8,13:260,423:0.00,42.44:0.00,42.44:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.6,82.8:0,0:0,0:16,57:135,94:7,29:-,NM_001008737.1(LOC401052) c.*143C>A:-,0.34:-,NOT_FOUND 3 10048951 rs3732962 T C 88 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.6446,C/0.3554;PC=0.021;Gene=LOC401052/NM_001008737.1/1;CC=c.*77A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:46:0:0:28,20:888,621:87.97,0.00:73.88,0.00:14.09,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:45.7,17.6:0,0:0,0:41,51:108,98:18,23:NM_001008737.1(LOC401052) c.*77A>G,-:0.34,-:NOT_FOUND,- 3 10049287 rs2272118 T C 140 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.6438,C/0.3562;PC=0.015;Gene=LOC401052/NM_001008737.1/1;CC=c.98A>G;ProtCh=p.H33R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:93:53:0:0:48,1,44:1447,14,1299:139.77,0.04,0.00:64.87,-0.08,0.00:74.90,0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:57.6,262.0,9.9:0,0,0:0,0,0:87,82,71:56,69,73:30,0,37:NM_001008737.1(LOC401052) c.98A>G (p.His33Arg),-:0.34,-:0.372388,- 3 10049308 . C . . NT END=10050087;NT GT ./. 3 10049352 rs2272119 A G 101 nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.6176,G/0.3824;PC=0.003;Gene=LOC401052/NM_001008737.1/1;CC=c.78-45T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:68:31:0:0:35,33:1185,1061:0.00,101.36:0.00,31.11:0.00,70.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.4,72.3:0,0:0,0:103,99:40,43:25,29:-,NM_001008737.1(LOC401052) c.78-45T>C:-,0.36:-,0.395477 3 10049861 rs9837307 G A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.6186,A/0.3814;PC=0.444;Gene=LOC401052/NM_001008737.1/1;CC=c.77+227C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:A,G:10:9:0:0:6,4:197,109:19.65,0.00:16.10,0.00:3.55,0.00:0.99,0.00:1.00,0.00:0.73,0.00:60,60:56.0,0.0:0,0:0,0:41,61:109,90:37,10:NM_001008737.1(LOC401052) c.77+227C>T,-:0.36,-:NOT_FOUND,- 3 10049922 rs9837460 G C 30 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.6176,C/0.3824;PC=0.016;Gene=LOC401052/NM_001008737.1/1;CC=c.77+166C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:16:15:0:0:9,7:300,220:29.53,0.00:25.90,0.00:3.63,0.00:1.00,0.00:1.00,0.00:0.71,0.00:60,60:48.0,7.1:0,0:0,0:44,69:106,82:34,44:NM_001008737.1(LOC401052) c.77+166C>G,-:0.36,-:NOT_FOUND,- 3 10050165 . T . . NT END=10070341;NT GT ./. 3 10059658 rs9862221 G T 32 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.7714,T/0.2286;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:17:13:0:0:7,10:225,323:0.00,32.03:0.00,15.23:0.00,16.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.0,91.2:0,0:0,0:65,75:84,71:36,15:-,NR_002786.1(CIDECP) n.382C>A:-,0.22:-,NOT_FOUND 3 10059664 rs73017232 T C 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9283,C/0.07169;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:15:0:0:11,7:324,236:32.30,0.00:17.14,0.00:15.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.5,3.7:0,0:0,0:76,71:65,78:21,40:NR_002786.1(CIDECP) n.376A>G,-:0.07,-:NOT_FOUND,- 3 10064242 rs6774785 G C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7821,C/0.2179;PC=0.003;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:C,G:9:8:0:0:4,5:140,176:13.22,0.00:4.67,0.00:8.55,0.00:0.85,0.00:0.98,0.00:0.98,0.00:60,60:52.8,2.2:0,0:0,0:88,94:43,57:32,42:NR_002786.1(CIDECP) n.284+1002C>G,-:0.21,-:NOT_FOUND,- 3 10064264 rs58588729 GGT G 16 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.027;Gene=CIDECP/NR_002786.1/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:GGT,G:7:5:0:6:2,5:63,177:0.00,15.81:0.00,5.71:0.00,10.10:0.00,0.97:0.00,0.99:0.00,0.97:60,70:40.5,26.0:0,1:0,0:142,72:8,60:1,6:-,NR_002786.1(CIDECP) n.284+978_284+979delAC:-,NOT_FOUND:-,NOT_FOUND 3 10065144 rs6775725 G A 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7887,A/0.2113;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G:11:11:0:0:5,6:165,209:15.59,0.00:15.59,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:34.6,15.0:0,0:0,0:17,27:130,122:3,11:NR_002786.1(CIDECP) n.284+100C>T,-:0.21,-:NOT_FOUND,- 3 10065426 rs6803517 C T 55 nt VT=SNV;PN=T;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7919,T/0.2081;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:9:0:0:14,17:443,559:0.00,54.74:0.00,9.79:0.00,44.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,37.4:0,0:0,0:93,108:58,43:34,23:-,NR_002786.1(CIDECP) n.102G>A:-,0.2:-,NOT_FOUND 3 10065528 rs9834980 G A 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7919,A/0.2081;PC=0.001;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:11:6:0:0:4,7:132,225:11.98,0.00:2.46,0.00:9.52,0.00:0.82,0.00:0.92,0.00:0.89,0.00:60,60:46.0,5.0:0,0:0,0:65,53:85,97:21,20:NR_002786.1(CIDECP) n.97-97C>T,-:0.2,-:NOT_FOUND,- 3 10067548 rs9845756 G C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7887,C/0.2113;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,G:5:5:0:0:3,2:92,64:9.17,0.00:9.17,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:107.7,59.5:0,0:0,0:34,78:117,72:15,31:NR_002786.1(CIDECP) n.96+177C>G,-:0.21,-:NOT_FOUND,- 3 10067651 rs2075310 C T 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.6418,T/0.3582;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:26:26:0:0:13,13:427,385:0.00,36.85:0.00,32.14:0.00,4.71:0.00,1.00:0.00,1.00:0.00,0.99:60,60:14.6,57.5:0,0:0,0:46,20:105,131:33,9:-,NR_002786.1(CIDECP) n.96+74G>A:-,0.33:-,NOT_FOUND 3 10067794 rs35993975 A G 94 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.871,G/0.129;PC=1.000;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:46:0:0:31,32:987,979:0.00,94.10:0.00,54.52:0.00,39.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,72.7:0,0:0,0:98,97:53,53:24,33:-,NR_002786.1(CIDECP) n.27T>C:-,0.13:-,NOT_FOUND 3 10067797 rs33917318 T C 88 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.7887,C/0.2113;PC=1.000;Gene=CIDECP/NR_002786.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:43:0:0:28,31:921,973:87.70,0.00:55.06,0.00:32.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:74.4,11.1:0,0:0,0:100,85:50,66:29,21:NR_002786.1(CIDECP) n.24A>G,-:0.21,-:NOT_FOUND,- 3 10067972 rs17032268 C T 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.7927,T/0.2073 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:6:0:0:15,12:476,367:0.00,34.35:0.00,2.13:0.00,32.21:0.00,1.00:0.00,0.96:0.00,1.00:60,60:1.9,40.3:0,0:0,0:54,124:94,26:38,17:-,NM_001018115.1(FANCD2) c.-78-u141C>T:-,0.2:-,NOT_FOUND 3 10070406 . G . . NT END=10074515;NT GT ./. 3 10074253 rs10212541 T A 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7889,A/0.2111;PC=0.003;Gene=FANCD2/NM_033084.3/0;CC=c.65-263T>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.65-263T>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,T:10:8:0:0:6,4:184,124:18.34,0.00:11.43,0.00:6.91,0.00:0.99,0.00:1.00,0.00:0.87,0.00:60,60:47.3,0.0:0,0:0,0:64,29:86,122:34,7:NM_001018115.1(FANCD2) c.65-263T>A,-:0.21,-:NOT_FOUND,- 3 10074341 rs34774358 A ATTTG 16 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6404,ATTTG/0.3596;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6404,ATTTG/0.3596;NP=324;Gene=FANCD2/NM_033084.3/0;CC=c.65-167_65-164dupGTTT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.65-167_65-164dupGTTT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,ATTTG:13:13:6:0:7,6:231,167:0.00,15.66:0.00,15.66:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:4.9,23.0:0,0:0,0:106,59:45,92:37,31:-,NM_001018115.1(FANCD2) c.65-175_65-174insTTTG:-,NOT_FOUND:-,NOT_FOUND 3 10074657 . G . . NT END=10076152;NT GT ./. 3 10075900 rs113663828 TG T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=TG/0.7887,T/0.2113;NP=96;PC=0.002;Gene=FANCD2/NM_033084.3/0;CC=c.206-246delG;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.206-246delG;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:TG,T:5:5:0:3:2,3:64,98:0.00,9.77:0.00,9.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,70:0.0,75.0:0,0:0,0:51,16:99,129:30,16:-,NM_001018115.1(FANCD2) c.206-252delG:-,0.21:-,NOT_FOUND 3 10075983 rs113771705 T C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8179,C/0.1821;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.206-170T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.206-170T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:C,T:7:7:0:0:4,3:132,107:13.03,0.00:13.03,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:70,60:89.5,32.3:0,0:0,0:90,71:48,80:8,31:NM_001018115.1(FANCD2) c.206-170T>C,-:0.18,-:NOT_FOUND,- 3 10075991 rs111392584 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8189,G/0.1811;Gene=FANCD2/NM_033084.3/0;CC=c.206-162A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.206-162A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,G:7:7:0:0:3,4:105,126:0.00,12.43:0.00,12.43:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,70:32.3,89.5:0,0:0,0:79,98:72,40:31,8:-,NM_001018115.1(FANCD2) c.206-162A>G:-,0.18:-,NOT_FOUND 3 10076221 . G . . NT END=10076378;NT GT ./. 3 10076483 . G . . NT END=10076856;NT GT ./. 3 10076842 rs55973240 CTT C 78 idl,nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=736;Gene=FANCD2/NM_033084.3/0;CC=c.378-6_378-5delTT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.378-6_378-5delTT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:49:42:0:28:24,25:779,873:0.00,78.08:0.00,51.66:0.00,26.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.8,11.1:0,2:0,0:57,51:83,97:32,20:-,NM_001018115.1(FANCD2) c.378-14_378-13delTT:-,NOT_FOUND:-,NOT_FOUND 3 10076918 . G . . NT END=10077970;NT GT ./. 3 10076975 rs17032276 A C 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.8189,C/0.1811;PC=0.072;Gene=FANCD2/NM_033084.3/0;CC=c.438+58A>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.438+58A>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:28:8:0:0:11,17:361,521:0.00,51.99:0.00,5.25:0.00,46.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,54.9:0,0:0,0:104,104:46,46:27,37:-,NM_001018115.1(FANCD2) c.438+58A>C:-,0.18:-,0.209812 3 10077023 rs17032277 T C 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8179,C/0.1821;Gene=FANCD2/NM_033084.3/0;CC=c.438+106T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.438+106T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,C,T:18:0:0:0:1,11,6:8,298,201:0.11,30.13,0.00:0.00,0.00,0.00:0.11,30.13,0.00:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:44.0,77.0,3.3:0,0,0:0,0,0:50,61,93:98,89,57:0,13,18:NM_001018115.1(FANCD2) c.438+106T>C,-:0.18,-:NOT_FOUND,- 3 10077955 rs17032278 A G 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.8179,G/0.1821;Gene=FANCD2/NM_033084.3/0;CC=c.439-16A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.439-16A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:32:22:0:0:18,13,1:544,458,10:0.00,42.87,0.01:0.00,17.67,0.12:0.00,25.20,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:18.3,42.4,39.0:0,0,0:0,0,0:66,51,126:84,86,15:32,16,0:-,NM_001018115.1(FANCD2) c.439-16A>G:-,0.18:-,0.218471 3 10078024 . G . . NT END=10080962;NT GT ./. 3 10081042 . G . . NT END=10081404;NT GT ./. 3 10081530 . G . . NT END=10083306;NT GT ./. 3 10081545 rs17032283 G C 100 nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.8179,C/0.1821;Gene=FANCD2/NM_033084.3/0;CC=c.695+16G>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.695+16G>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:71:30:0:0:31,40:1066,1296:100.30,0.00:32.82,0.00:67.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,10.6:0,0:0,0:78,80:67,62:22,34:NM_001018115.1(FANCD2) c.695+16G>C,-:0.18,-:0.216977,- 3 10083169 rs35220123 C T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8179,T/0.1821;Gene=FANCD2/NM_033084.3/0;CC=c.696-138C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.696-138C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:9:9:0:0:4,5:132,159:0.00,15.60:0.00,15.60:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:12.8,34.2:0,0:0,0:32,71:119,80:4,24:-,NM_001018115.1(FANCD2) c.696-138C>T:-,0.18:-,NOT_FOUND 3 10083395 . G . . NT END=10084242;NT GT ./. 3 10083589 rs530443502 G GT 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;PC=0.003;Gene=FANCD2/NM_033084.3/0;CC=c.783+206_783+207insT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.783+206_783+207insT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:G,GT,D:5:0:3:1:1,3,1:33,98,29:0.00,10.17,2.58:0.00,0.00,0.00:0.00,10.17,2.58:0.00,0.78,0.00:0.00,0.00,0.00:0.00,0.78,0.00:60,60,60:51.0,3.7,34.0:0,0,0:0,0,0:134,58,81:12,92,70:0,31,0:-,NM_001018115.1(FANCD2) c.783+195_783+196insT:-,NOT_FOUND:-,NOT_FOUND 3 10084224 rs9879080 C T 52 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.7893,T/0.2107;PC=0.006;Gene=FANCD2/NM_033084.3/0;CC=c.784-19C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.784-19C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:32:0:0:18,17:604,548:0.00,52.38:0.00,36.79:0.00,15.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,32.8:0,0:0,0:52,62:92,87:20,40:-,NM_001018115.1(FANCD2) c.784-19C>T:-,0.21:-,0.252653 3 10084348 . G . . NT END=10084733;NT GT ./. 3 10084835 . G . . NT END=10085167;NT GT ./. 3 10085035 rs803335 G T 109 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.04752,A/.,T/0.9525;Gene=FANCD2/NM_033084.3/0;CC=c.990-133G>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.990-133G>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:18:0:0:29:951:108.89:68.65:40.24:1.00:1.00:1.00:60:43.7:0:0:73:78:32:NM_001018115.1(FANCD2) c.990-133G>T,NM_001018115.1(FANCD2) c.990-133G>T:0.95,0.95:NOT_FOUND,NOT_FOUND 3 10085130 rs9809061 C G 71 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7883,G/0.2117,T/.;Gene=FANCD2/NM_033084.3/0;CC=c.990-38C>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.990-38C>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:42:32:0:0:19,23:620,728:0.00,71.17:0.00,45.78:0.00,25.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.1,39.3:0,0:0,0:40,38:108,111:25,24:-,NM_001018115.1(FANCD2) c.990-38C>G:-,0.21:-,0.243053 3 10085277 . G . . NT END=10085512;NT GT ./. 3 10085406 . G T 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;NP=242;Gene=FANCD2/NM_033084.3/0;CC=c.1099-107G>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1099-107G>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:G,T:34:24:0:0:27,7:934,218:0.00,17.63:0.00,18.74:0.00,-1.10:0.00,0.95:0.00,0.99:0.00,0.89:60,49:16.4,36.4:0,0:0,0:43,17:108,134:28,8:-,NM_001018115.1(FANCD2) c.1099-107G>T:-,NOT_FOUND:-,NOT_FOUND 3 10085536 rs34046352 A G 46 lc VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.1122A>G;ProtCh=p.V374=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.1122A>G;ProtCh=p.V374=;VC=Silent;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:44:0:0:48,16:1583,540:0.00,46.01:0.00,19.38:0.00,26.63:0.00,1.00:0.00,1.00:0.00,1.00:56,55:6.5,46.1:0,0:0,0:83,85:56,62:19,29:-,NM_001018115.1(FANCD2) c.1122A>G (p.(=)):-,0.15:-,NOT_FOUND 3 10085549 . G . . NT END=10088263;NT GT ./. 3 10085624 rs35870071 G T 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1134+76G>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1134+76G>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,T:22:5:0:0:17,5:544,138:0.00,11.07:0.00,2.90:0.00,8.17:0.00,0.84:0.00,0.71:0.00,0.98:50,40:8.4,66.0:0,0:0,0:103,118:48,32:26,13:-,NM_001018115.1(FANCD2) c.1134+76G>T:-,0.12:-,NOT_FOUND 3 10088016 rs35208474 T C 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8097,C/0.1903;Gene=FANCD2/NM_033084.3/0;CC=c.1135-248T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1135-248T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T:10:10:0:0:6,4:197,114:19.64,0.00:19.64,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:47.3,4.5:0,0:0,0:88,40:62,110:27,25:NM_001018115.1(FANCD2) c.1135-248T>C,-:0.18,-:NOT_FOUND,- 3 10088239 rs201770712 G A 15 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1135-25G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1135-25G>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:44:A,G:77:61:0:0:8,69:218,2377:14.62,0.00:14.63,0.00:-0.01,0.00:0.94,0.00:0.99,0.00:0.97,0.00:60,60:215.6,4.6:0,0:0,0:26,76:119,71:10,31:NM_001018115.1(FANCD2) c.1135-25G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10088242 rs199726231 G A 18 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=NA;PC=0.031;Gene=FANCD2/NM_033084.3/0;CC=c.1135-22G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1135-22G>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:A,G:78:63:0:0:9,69:255,2268:17.81,0.00:16.54,0.00:1.28,0.00:0.97,0.00:1.00,0.00:0.98,0.00:60,60:206.8,4.5:0,0:0,0:25,75:114,74:15,27:NM_001018115.1(FANCD2) c.1135-22G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10088266 rs72492997 G T 39 lc VT=SNV;PN=T;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=NA;NP=274;PC=0.986;Gene=FANCD2/NM_033084.3/0;CC=c.1137G>T;ProtCh=p.V379=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.1137G>T;ProtCh=p.V379=;VC=Silent;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:86:65:0:0:70,16:2363,496:0.00,39.30:0.00,27.11:0.00,12.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.7,175.0:0,0:0,0:65,30:81,114:38,16:-,NM_001018115.1(FANCD2) c.1137G>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 10088299 rs112887807 C T 48 lc VT=SNV;PN=G;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=728;PC=1.000;Gene=FANCD2/NM_033084.3/0;CC=c.1170C>T;ProtCh=p.S390=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.1170C>T;ProtCh=p.S390=;VC=Silent;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:91:61:0:0:71,20:2397,591:0.00,47.86:0.00,27.04:0.00,20.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.8,163.9:0,0:0,0:88,55:60,84:38,17:-,NM_001018115.1(FANCD2) c.1170C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 10088308 rs72492998 T C 47 lc VT=SNV;PN=C;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=1551;PC=0.822;Gene=FANCD2/NM_033084.3/0;CC=c.1179T>C;ProtCh=p.T393=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.1179T>C;ProtCh=p.T393=;VC=Silent;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:55:0:0:19,69:579,2285:47.05,0.00:23.62,0.00:23.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:159.3,5.9:0,0:0,0:63,92:86,57:17,33:NM_001018115.1(FANCD2) c.1179T>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 10088343 rs73126218 A G 56 lc VT=SNV;PN=A;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=NA;PC=0.531;Gene=FANCD2/NM_033084.3/0;CC=c.1214A>G;ProtCh=p.N405S;VC=Missense;Gene=FANCD2/NM_001018115.1/1;CC=c.1214A>G;ProtCh=p.N405S;VC=Missense;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:85:42:0:0:64,20,1:2086,665,10:0.00,56.03,-0.22:0.00,28.28,0.02:0.00,27.75,-0.24:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:2.4,162.1,193.0:0,0,0:0,0,0:90,92,126:58,52,8:25,20,0:-,NM_001018115.1(FANCD2) c.1214A>G (p.Asn405Ser):-,0.44:-,NOT_FOUND 3 10088404 . C T 28 idl,lc VT=SNV;PN=A;NN=T;SST=Single;DP=47;Gene=FANCD2/NM_033084.3/0;CC=c.1275C>T;ProtCh=p.Y425=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.1275C>T;ProtCh=p.Y425=;VC=Silent;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:16:0:0:37,10:1225,334:0.00,27.61:0.00,2.22:0.00,25.39:0.00,0.99:0.00,0.95:0.00,1.00:58,43:2.6,167.5:0,9:0,0:126,106:23,41:21,20:-,NM_001018115.1(FANCD2) c.1275C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 10088406 rs369823368 TAGTA T 21 sb,lc VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;PC=0.993;Gene=FANCD2/NM_033084.3/0;CC=c.1278+3_1278+6delAAGT;VC=SpliceSiteDelCDS;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+3_1278+6delAAGT;VC=SpliceSiteDelCDS;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:TAGTA,T:44:14:0:9:35,9:1101,259:0.00,20.60:0.00,1.99:0.00,18.60:0.00,0.99:0.00,0.92:0.00,1.00:57,43:7.5,165.8:0,0:0,0:130,100:21,51:16,22:-,NM_001018115.1(FANCD2) c.1278_1278+3delAGTA:-,NOT_FOUND:-,NOT_FOUND 3 10088408 . G . . NT END=10089600;NT GT ./. 3 10088412 . G T 23 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;PC=1.000;Gene=FANCD2/NM_033084.3/0;CC=c.1278+5G>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+5G>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:41:11:0:0:32,9:1028,279:0.00,22.84:0.00,2.57:0.00,20.27:0.00,0.99:0.00,0.89:0.00,1.00:58,43:2.6,170.2:0,9:0,0:122,102:28,49:22,25:-,NM_001018115.1(FANCD2) c.1278+5G>T:-,NOT_FOUND:-,NOT_FOUND 3 10088422 rs144167368 C T 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=75;PC=0.004;Gene=FANCD2/NM_033084.3/0;CC=c.1278+15C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+15C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:10:0:0:26,10:870,333:0.00,28.83:0.00,2.56:0.00,26.27:0.00,1.00:0.00,0.94:0.00,1.00:58,43:1.8,170.2:0,0:0,0:99,104:51,46:27,30:-,NM_001018115.1(FANCD2) c.1278+15C>T:-,NOT_FOUND:-,NOT_FOUND 3 10088443 rs145517746 C A 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1278+36C>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+36C>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:A,C:25:6:0:0:6,19:213,633:18.18,0.00:1.37,0.00:16.81,0.00:0.92,0.00:0.78,0.00:0.99,0.00:43,60:193.5,1.8:0,0:0,0:82,101:68,50:24,22:NM_001018115.1(FANCD2) c.1278+36C>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10088444 rs142624538 A G 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1278+37A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+37A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,G:24:5:0:0:18,6:629,198:0.00,16.80:0.00,1.39:0.00,15.41:0.00,0.92:0.00,0.75:0.00,0.92:58,43:1.9,186.8:0,0:0,0:108,93:41,58:15,18:-,NM_001018115.1(FANCD2) c.1278+37A>G:-,NOT_FOUND:-,NOT_FOUND 3 10088461 rs150415982 T C 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2;Gene=FANCD2/NM_033084.3/0;CC=c.1278+54T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+54T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:4:0:0:7,16:226,512:19.81,0.00:1.44,0.00:18.36,0.00:0.97,0.00:0.77,0.00:0.97,0.00:52,60:178.9,2.1:0,0:0,0:99,114:52,36:37,19:NM_001018115.1(FANCD2) c.1278+54T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10088514 rs202020623 T C 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=66;Gene=FANCD2/NM_033084.3/0;CC=c.1278+107T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+107T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,T:11:0:0:0:4,7:125,240:11.28,0.00:0.00,0.00:11.28,0.00:0.82,0.00:0.00,0.00:0.82,0.00:52,60:188.8,21.1:0,0:0,0:87,103:58,48:27,42:NM_001018115.1(FANCD2) c.1278+107T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10088522 rs9825871 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7879,A/0.2121;PC=0.019;Gene=FANCD2/NM_033084.3/0;CC=c.1278+115G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+115G>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,G:10:0:0:0:5,5:161,146:15.48,0.00:0.00,0.00:15.48,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:158.4,19.8:0,0:0,0:68,83:82,66:16,28:NM_001018115.1(FANCD2) c.1278+115G>A,-:0.35,-:NOT_FOUND,- 3 10088532 rs148201951 TAATC T 12 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.1278+127_1278+130delATCA;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+127_1278+130delATCA;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:TAATC,T:10:0:0:4:6,4:188,126:0.00,11.59:0.00,0.00:0.00,11.59:0.00,0.84:0.00,0.00:0.00,0.84:60,52:22.7,188.8:0,0:0,0:77,105:72,40:44,27:-,NM_001018115.1(FANCD2) c.1278+126_1278+129delAATC:-,NOT_FOUND:-,NOT_FOUND 3 10088582 rs72492999 G A 6 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.1278+175G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+175G>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:71:A,G:8:0:0:0:3,5:73,135:6.42,0.00:0.00,0.00:6.42,0.00:0.67,0.00:0.00,0.00:0.67,0.00:54,60:173.3,29.8:0,0:0,0:123,81:28,70:1,31:NM_001018115.1(FANCD2) c.1278+175G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10088589 rs77580712 G A 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.1278+182G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+182G>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:84:A,G:7:0:0:0:3,4:83,116:7.65,0.00:0.00,0.00:7.65,0.00:0.69,0.00:0.00,0.00:0.69,0.00:54,60:173.3,37.2:0,0:0,0:130,80:21,70:1,22:NM_001018115.1(FANCD2) c.1278+182G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10088598 rs142887274 T TC 8 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=2;PC=0.003;Gene=FANCD2/NM_033084.3/0;CC=c.1278+191_1278+192insC;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1278+191_1278+192insC;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:T,TC:7:0:3:0:4,3:110,87:0.00,8.07:0.00,0.00:0.00,8.07:0.00,0.69:0.00,0.00:0.00,0.69:60,54:37.2,173.3:0,0:0,0:89,139:61,12:22,1:-,NM_001018115.1(FANCD2) c.1278+191_1278+192insC:-,NOT_FOUND:-,NOT_FOUND 3 10089470 rs7649243 T A 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8209,A/0.1791;PC=0.006;Gene=FANCD2/NM_033084.3/0;CC=c.1279-131T>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1279-131T>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:A,T:18:18:0:0:13,5:434,141:45.03,0.00:41.35,0.00:3.69,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:33.4,37.6:0,0:0,0:74,34:77,117:43,33:NM_001018115.1(FANCD2) c.1279-131T>A,-:0.18,-:NOT_FOUND,- 3 10089480 rs116621886 C T 11 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1279-121C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1279-121C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:22:22:0:0:18,4:527,136:0.00,10.98:0.00,11.11:0.00,-0.13:0.00,0.70:0.00,0.70:0.00,0.50:60,40:26.8,125.5:0,0:0,0:79,7:72,143:42,2:-,NM_001018115.1(FANCD2) c.1279-121C>T:-,NOT_FOUND:-,NOT_FOUND 3 10089497 rs114101942 C T 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=16;Gene=FANCD2/NM_033084.3/0;CC=c.1279-104C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1279-104C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:25:24:0:0:19,6:606,154:0.00,12.29:0.00,12.82:0.00,-0.54:0.00,0.92:0.00,0.99:0.00,0.85:60,40:17.7,117.2:0,0:0,0:54,21:97,129:47,6:-,NM_001018115.1(FANCD2) c.1279-104C>T:-,NOT_FOUND:-,NOT_FOUND 3 10089499 rs200073821 A G 17 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=78;Gene=FANCD2/NM_033084.3/0;CC=c.1279-102A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1279-102A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:A,G:26:25:0:0:20,6:644,200:0.00,16.76:0.00,17.28:0.00,-0.51:0.00,0.91:0.00,0.99:0.00,0.84:60,40:13.6,117.2:0,0:0,0:43,23:107,127:39,6:-,NM_001018115.1(FANCD2) c.1279-102A>G:-,NOT_FOUND:-,NOT_FOUND 3 10089509 rs77520528 A G 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1160;PC=0.004;Gene=FANCD2/NM_033084.3/0;CC=c.1279-92A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1279-92A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:27:0:0:21,7:715,235:0.00,20.00:0.00,20.63:0.00,-0.63:0.00,0.96:0.00,1.00:0.00,0.89:60,40:12.3,106.6:0,0:0,0:30,33:118,118:22,7:-,NM_001018115.1(FANCD2) c.1279-92A>G:-,NOT_FOUND:-,NOT_FOUND 3 10089549 rs113574694 TACTA T 37 sb,nt VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1241;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.1279-48_1279-45delAACT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1279-48_1279-45delAACT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TACTA,T:43:40:0:15:28,15:913,415:0.00,36.53:0.00,36.23:0.00,0.30:0.00,1.00:0.00,1.00:0.00,1.00:60,43:4.8,58.5:0,0:0,0:45,44:98,107:21,22:-,NM_001018115.1(FANCD2) c.1279-51_1279-48delACTA:-,NOT_FOUND:-,NOT_FOUND 3 10089723 rs12330369 G A 102 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=NA;NP=2730;PC=0.927;Gene=FANCD2/NM_033084.3/0;CC=c.1401G>A;ProtCh=p.T467=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.1401G>A;ProtCh=p.T467=;VC=Silent;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:91:54:0:0:34,56,1:1121,1790,11:102.44,0.00,-0.13:32.80,0.00,0.01:69.63,0.00,-0.14:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:131.4,13.5,112.0:0,0,0:0,0,0:95,87,43:49,59,107:31,30,0:NM_001018115.1(FANCD2) c.1401G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 10089736 . G . . NT END=10091057;NT GT ./. 3 10089738 rs62245508 A G 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=NA;NP=850;PC=1.000;Gene=FANCD2/NM_033084.3/0;CC=c.1413+3A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+3A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:84:45:0:0:56,28:1713,947:0.00,84.87:0.00,24.57:0.00,60.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.9,154.1:0,0:0,0:98,96:49,41:31,22:-,NM_001018115.1(FANCD2) c.1413+3A>G:-,NOT_FOUND:-,NOT_FOUND 3 10089749 rs12330599 T C 69 nt VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=160;PC=0.011;Gene=FANCD2/NM_033084.3/0;CC=c.1413+14T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+14T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:40:0:0:24,51:777,1616:68.74,0.00:19.96,0.00:48.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:160.8,19.1:0,0:0,0:101,109:43,41:21,26:NM_001018115.1(FANCD2) c.1413+14T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10089772 rs79830642 C G 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=1;Gene=FANCD2/NM_033084.3/0;CC=c.1413+37C>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+37C>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:57:34:0:0:42,15:1312,508:0.00,43.70:0.00,15.62:0.00,28.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.6,211.9:0,0:0,0:103,108:35,42:34,9:-,NM_001018115.1(FANCD2) c.1413+37C>G:-,NOT_FOUND:-,NOT_FOUND 3 10089773 rs7615646 A C 56 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.8209,C/0.1791,G/.;Gene=FANCD2/NM_033084.3/0;CC=c.1413+38A>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+38A>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:A,C,G:57:33:0:0:21,21,15:693,590,473:0.00,55.70,42.98:0.00,20.14,13.95:0.00,35.56,29.03:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.3,41.7,211.9:0,0,0:0,0,0:96,127,109:37,23,41:37,21,9:-,NM_001018115.1(FANCD2) c.1413+38A>C:-,0.18:-,0.213352 3 10089775 rs75389047 A G 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=1;Gene=FANCD2/NM_033084.3/0;CC=c.1413+40A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+40A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:28:0:0:40,11:1222,353:0.00,29.03:0.00,6.87:0.00,22.16:0.00,1.00:0.00,0.99:0.00,1.00:60,60:24.1,209.1:0,0:0,0:104,111:34,39:33,8:-,NM_001018115.1(FANCD2) c.1413+40A>G:-,NOT_FOUND:-,NOT_FOUND 3 10089815 rs77169020 A C 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1413+80A>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+80A>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,C:30:12:0:0:23,7:614,209:0.00,17.19:0.00,5.92:0.00,11.27:0.00,0.95:0.00,0.92:0.00,1.00:60,60:19.2,226.4:0,0:0,0:92,142:59,8:33,5:-,NM_001018115.1(FANCD2) c.1413+80A>C:-,NOT_FOUND:-,NOT_FOUND 3 10089818 rs78988497 C T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1413+83C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+83C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,T:28:11:0:0:24,4:801,112:0.00,8.13:0.00,2.02:0.00,6.11:0.00,0.66:0.00,0.75:0.00,0.95:60,60:19.0,265.5:0,0:0,0:88,76:62,74:38,67:-,NM_001018115.1(FANCD2) c.1413+83C>T:-,NOT_FOUND:-,NOT_FOUND 3 10089834 rs74351786 A T 6 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1413+99A>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+99A>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,T:25:5:0:0:22,3:633,90:0.00,6.46:0.00,1.31:0.00,5.15:0.00,0.46:0.00,0.46:0.00,0.88:60,33:17.9,244.3:0,0:0,0:85,29:65,122:28,1:-,NM_001018115.1(FANCD2) c.1413+99A>T:-,NOT_FOUND:-,NOT_FOUND 3 10089852 rs75274508 A G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=NA;PC=0.006;Gene=FANCD2/NM_033084.3/0;CC=c.1413+117A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+117A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,G:25:2:0:0:21,4:653,116:0.00,8.75:0.00,-0.11:0.00,8.86:0.00,0.67:0.00,0.41:0.00,0.96:60,51:17.4,241.0:0,0:0,0:85,40:66,106:33,7:-,NM_001018115.1(FANCD2) c.1413+117A>G:-,NOT_FOUND:-,NOT_FOUND 3 10089886 rs73811818 G T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2;Gene=FANCD2/NM_033084.3/0;CC=c.1413+151G>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+151G>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:0:0:0:16,7:483,219:0.00,19.10:0.00,0.00:0.00,19.10:0.00,0.97:0.00,0.00:0.00,0.97:60,51:9.1,238.3:0,0:0,0:94,35:56,98:23,10:-,NM_001018115.1(FANCD2) c.1413+151G>T:-,NOT_FOUND:-,NOT_FOUND 3 10089906 rs372506747 C A 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2;Gene=FANCD2/NM_033084.3/0;CC=c.1413+171C>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+171C>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:0:0:0:7,16:216,546:18.80,0.00:0.00,0.00:18.80,0.00:0.97,0.00:0.00,0.00:0.97,0.00:51,60:238.3,9.1:0,0:0,0:55,114:78,36:10,23:NM_001018115.1(FANCD2) c.1413+171C>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10089925 rs375792717 G A 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=1;PC=0.065;Gene=FANCD2/NM_033084.3/0;CC=c.1413+190G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+190G>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:7,11:212,378:19.31,0.00:0.00,0.00:19.31,0.00:0.98,0.00:0.00,0.00:0.98,0.00:51,60:238.3,2.1:0,0:0,0:74,120:59,30:10,14:NM_001018115.1(FANCD2) c.1413+190G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 10089934 rs149106922 TTC T 13 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=1;Gene=FANCD2/NM_033084.3/0;CC=c.1413+203_1413+204delCT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+203_1413+204delCT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:TTC,T:17:0:0:7:10,7:325,148:0.00,12.95:0.00,0.00:0.00,12.95:0.00,0.98:0.00,0.00:0.00,0.98:60,51:2.3,238.3:0,0:0,0:125,83:25,50:17,10:-,NM_001018115.1(FANCD2) c.1413+200_1413+201delTC:-,NOT_FOUND:-,NOT_FOUND 3 10089962 rs370168719 T C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1413+227T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+227T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:140:C,T:9:0:0:0:4,5:138,143:13.02,0.00:0.00,0.00:13.02,0.00:0.85,0.00:0.00,0.00:0.85,0.00:51,60:233.8,2.4:0,0:0,0:103,102:24,47:2,26:NM_001018115.1(FANCD2) c.1413+227T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10089966 rs374445993 C T 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1413+231C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+231C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:8:0:0:0:4,4:130,136:0.00,13.10:0.00,0.00:0.00,13.10:0.00,0.87:0.00,0.00:0.00,0.87:60,51:3.0,233.8:0,0:0,0:106,107:43,20:13,2:-,NM_001018115.1(FANCD2) c.1413+231C>T:-,NOT_FOUND:-,NOT_FOUND 3 10089967 rs368904137 C G 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1413+232C>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+232C>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,G:8:0:0:0:4,4:130,117:0.00,11.18:0.00,0.00:0.00,11.18:0.00,0.87:0.00,0.00:0.00,0.87:60,51:3.0,233.8:0,0:0,0:107,108:42,19:13,2:-,NM_001018115.1(FANCD2) c.1413+232C>G:-,NOT_FOUND:-,NOT_FOUND 3 10089970 rs370704605 T G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.1413+235T>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1413+235T>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:G,T:8:0:0:0:4,4:132,118:12.70,0.00:0.00,0.00:12.70,0.00:0.87,0.00:0.00,0.00:0.87,0.00:51,60:233.8,3.0:0,0:0,0:111,110:16,39:2,13:NM_001018115.1(FANCD2) c.1413+235T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 10091153 rs35652360 C T 9 lc VT=SNV;PN=A;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=0.365;Gene=FANCD2/NM_033084.3/0;CC=c.1509C>T;ProtCh=p.N503=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.1509C>T;ProtCh=p.N503=;VC=Silent;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,C,T:40:28:0:0:1,35,4:10,1148,125:-0.17,0.00,8.81:0.05,0.00,6.85:-0.22,0.00,1.96:0.00,0.00,0.59:0.00,0.00,0.87:0.00,0.00,0.89:27,60,40:148.0,2.8,59.8:0,0,0:0,0,0:99,94,96:52,51,53:0,32,10:-,NM_001018115.1(FANCD2) c.1509C>T (p.(=)):-,0.12:-,NOT_FOUND 3 10091190 . G . . NT END=10094070;NT GT ./. 3 10094182 . G . . NT END=10101977;NT GT ./. 3 10094206 . AT A 9 rn VT=DEL;SST=Single;DP=24;NP=63;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.1656+38delT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1656+38delT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:AT,I,A:24:5:3:4:17,3,4:541,100,120:0.00,7.74,9.45:0.00,2.83,-0.20:0.00,4.91,9.65:0.00,0.00,0.68:0.00,0.00,0.59:0.00,0.00,0.95:60,60,60:9.9,0.0,29.8:0,0,0:0,0,0:132,94,78:18,57,73:10,4,28:-,NM_001018115.1(FANCD2) c.1656+26delT:-,NOT_FOUND:-,NOT_FOUND 3 10094418 rs34550475 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.8652,C/0.1348;PC=0.227;Gene=FANCD2/NM_033084.3/0;CC=c.1656+237T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1656+237T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:C,T:4:1:0:0:2,2:68,46:6.56,0.00:3.68,0.00:2.88,0.00:0.51,0.00:0.67,0.00:0.89,0.00:60,60:42.0,26.0:0,0:0,0:86,48:65,95:27,27:NM_001018115.1(FANCD2) c.1656+237T>C,-:0.13,-:NOT_FOUND,- 3 10101851 rs111589951 C CA 21 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1;NP=11;PC=0.203;Gene=FANCD2/NM_033084.3/0;CC=c.1657-112_1657-111insA;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1657-112_1657-111insA;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,CA,D:11:14:10:1:3,7,1:96,304,30:0.00,20.93,2.23:0.00,20.93,2.23:0.00,0.00,0.00:0.00,0.99,0.00:0.00,0.99,0.00:0.00,0.00,0.00:60,60,60:29.3,20.6,44.0:0,3,0:0,0,0:54,20,31:97,129,120:52,9,0:-,NM_001018115.1(FANCD2) c.1657-127_1657-126insA:-,NOT_FOUND:-,NOT_FOUND 3 10102088 . G . . NT END=10103834;NT GT ./. 3 10103896 . G . . NT END=10105475;NT GT ./. 3 10103931 . CT C 47 idl,rn VT=DEL;SST=Single;DP=37;NP=4;PC=0.198;Gene=FANCD2/NM_033084.3/0;CC=c.1827+50delT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1827+50delT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:35:21:0:18:19,16:613,563:0.00,47.24:0.00,16.99:0.00,30.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,14.9:0,2:0,0:124,91:13,59:18,26:-,NM_001018115.1(FANCD2) c.1827+37delT:-,NOT_FOUND:-,0.168398 3 10104034 rs6804967 C T 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7915,T/0.2085;PC=0.007;Gene=FANCD2/NM_033084.3/0;CC=c.1827+139C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1827+139C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:C,T:16:0:0:0:5,11:160,362:0.00,37.13:0.00,0.00:0.00,37.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,39.8:0,0:0,0:98,65:52,86:10,34:-,NM_001018115.1(FANCD2) c.1827+139C>T:-,0.2:-,NOT_FOUND 3 10105150 rs7652190 G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8255,A/0.1745;PC=0.005;Gene=FANCD2/NM_033084.3/0;CC=c.1828-326G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1828-326G>A;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:6:6:0:0:3,3:101,96:9.73,0.00:9.73,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.7,0.0:0,0:0,0:53,25:97,126:18,8:NM_001018115.1(FANCD2) c.1828-326G>A,-:0.17,-:NOT_FOUND,- 3 10105596 . G . . NT END=10106039;NT GT ./. 3 10105661 rs369470214 CT C 10 nt VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=NA;NP=94;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.1947+69delT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.1947+69delT;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:CT,C:66:26:0:8:59,7:1955,164:0.00,10.43:0.00,0.34:0.00,10.10:0.00,0.89:0.00,0.87:0.00,0.99:60,53:9.1,0.0:0,0:0,0:111,128:36,22:22,14:-,NM_001018115.1(FANCD2) c.1947+67delT:-,NOT_FOUND:-,NOT_FOUND 3 10106114 . G . . NT END=10106412;NT GT ./. 3 10106144 rs3864015 C T 68 nt VT=SNV;PN=G;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=NA;NP=1753;Gene=FANCD2/NM_033084.3/0;CC=c.2021+31C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2021+31C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:28:0:0:37,24:1240,745:0.00,68.20:0.00,23.36:0.00,44.84:0.00,1.00:0.00,1.00:0.00,1.00:60,51:8.9,34.3:0,0:0,0:82,57:66,93:26,27:-,NM_001018115.1(FANCD2) c.2021+31C>T:-,NOT_FOUND:-,NOT_FOUND 3 10106366 . T C 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;PC=0.001;Gene=FANCD2/NM_033084.3/0;CC=c.2022-47T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2022-47T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:C,T:45:35:0:0:5,40:133,1340:8.91,0.00:6.48,0.00:2.43,0.00:0.74,0.00:0.94,0.00:0.80,0.00:40,60:98.0,9.9:0,0:0,0:19,80:131,68:13,35:NM_001018115.1(FANCD2) c.2022-47T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10106386 . A G 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=55;NP=4;Gene=FANCD2/NM_033084.3/0;CC=c.2022-27A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2022-27A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G,T:55:46:0:0:46,8,1:1413,263,8:0.00,20.29,-0.26:0.00,17.90,-0.16:0.00,2.39,-0.10:0.00,0.96,0.00:0.00,1.00,0.00:0.00,0.88,0.00:60,40,60:11.0,86.8,8.0:0,0,0:0,0,0:69,11,86:80,140,65:44,9,0:-,NM_001018115.1(FANCD2) c.2022-27A>G:-,NOT_FOUND:-,NOT_FOUND 3 10106408 rs4019784 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=NA;NP=202;Gene=FANCD2/NM_033084.3/0;CC=c.2022-5C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2022-5C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:53:0:0:56,13:1712,443:0.00,36.01:0.00,28.67:0.00,7.34:0.00,1.00:0.00,1.00:0.00,0.99:60,43:14.6,67.5:0,0:0,0:58,25:92,126:38,10:-,NM_001018115.1(FANCD2) c.2022-5C>T:-,NOT_FOUND:-,NOT_FOUND 3 10106532 rs3864017 C T 128 lc VT=SNV;PN=C;NN=G;SST=Single;DP=110;DB;DBA=NA;PAF=NA;Gene=FANCD2/NM_033084.3/0;CC=c.2141C>T;ProtCh=p.P714L;VC=Missense;Gene=FANCD2/NM_001018115.1/1;CC=c.2141C>T;ProtCh=p.P714L;VC=Missense;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:110:66:0:0:1,65,2,42:8,1986,35,1392:-0.20,0.00,0.74,128.14:-0.09,0.00,-0.19,55.25:-0.11,0.00,0.92,72.89:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:43,60,50,60:67.0,17.6,112.5,39.1:0,0,0,0:0,0,0,0:86,101,93,84:65,45,49,66:0,25,18,38:-,NM_001018115.1(FANCD2) c.2141C>T (p.Pro714Leu):-,0.15:-,NOT_FOUND 3 10106560 . G . . NT END=10107077;NT GT ./. 3 10106608 . T C 30 end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;NP=813;Gene=FANCD2/NM_033084.3/0;CC=c.2168+49T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2168+49T>C;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:16:0:0:13,42:371,1358:30.25,0.00:5.26,0.00:25.00,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:53.1,18.6:0,0:0,0:140,89:10,56:3,28:NM_001018115.1(FANCD2) c.2168+49T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 10106623 . C T 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;NP=180;PC=0.002;Gene=FANCD2/NM_033084.3/0;CC=c.2168+64C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2168+64C>T;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:43:9:0:0:36,7:1238,182:0.00,13.30:0.00,-0.46:0.00,13.76:0.00,0.94:0.00,0.74:0.00,1.00:60,40:17.2,99.9:0,0:0,0:90,107:57,42:21,10:-,NM_001018115.1(FANCD2) c.2168+64C>T:-,NOT_FOUND:-,NOT_FOUND 3 10106661 . A G 11 end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;Gene=FANCD2/NM_033084.3/0;CC=c.2168+102A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2168+102A>G;VC=Intron;DM=FANCD2/FancD2;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,G:31:6:0:0:26,5:884,141:0.00,10.55:0.00,-0.31:0.00,10.86:0.00,0.80:0.00,0.63:0.00,0.98:60,40:6.8,115.8:0,0:0,0:110,143:37,6:16,3:-,NM_001018115.1(FANCD2) c.2168+102A>G:-,NOT_FOUND:-,NOT_FOUND 3 10107179 . G . . NT END=10107547;NT GT ./. 3 10107520 rs34608006 G T 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8247,T/0.1753;Gene=FANCD2/NM_033084.3/0;CC=c.2270-28G>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2270-28G>T;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:27:22:0:0:14,13:465,421:0.00,40.18:0.00,22.05:0.00,18.13:0.00,1.00:0.00,1.00:0.00,1.00:57,60:16.5,33.5:0,0:0,0:29,56:114,95:12,30:-,NM_001018115.1(FANCD2) c.2270-28G>T:-,0.18:-,0.211704 3 10107664 . G . . NT END=10108892;NT GT ./. 3 10108745 rs3895942 G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7919,C/0.2081;PC=0.016;Gene=FANCD2/NM_033084.3/0;CC=c.2386-148G>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2386-148G>C;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:C,G:8:8:0:0:3,5:102,175:9.33,0.00:9.33,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:34.0,0.0:0,0:0,0:11,73:139,78:9,26:NM_001018115.1(FANCD2) c.2386-148G>C,-:0.2,-:NOT_FOUND,- 3 10109002 . G . . NT END=10114554;NT GT ./. 3 10114666 . G . . NT END=10114936;NT GT ./. 3 10114802 rs9824585 T C 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.7802,C/0.2198;Gene=FANCD2/NM_033084.3/0;CC=c.2606-135T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2606-135T>C;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:17:0:0:14,10:443,289:43.91,0.00:37.51,0.00:6.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,5.2:0,0:0,0:50,112:101,37:34,17:NM_001018115.1(FANCD2) c.2606-135T>C,-:0.22,-:NOT_FOUND,- 3 10115047 . G . . NT END=10116213;NT GT ./. 3 10116358 . G . . NT END=10119764;NT GT ./. 3 10116541 rs6782602 G T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7881,T/0.2119;Gene=FANCD2/NM_033084.3/0;CC=c.2859+184G>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2859+184G>T;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:G,T:9:0:0:0:4,5:139,164:0.00,16.10:0.00,0.00:0.00,16.10:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,32.8:0,0:0,0:59,105:92,46:23,14:-,NM_001018115.1(FANCD2) c.2859+184G>T:-,0.21:-,NOT_FOUND 3 10119603 rs6792951 C A 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.7804,A/0.2196;PC=0.695;Gene=FANCD2/NM_033084.3/0;CC=c.2860-162C>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2860-162C>A;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,C:12:12:0:0:7,5:236,153:23.40,0.00:23.40,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:42.3,16.0:0,0:0,0:78,56:73,93:51,36:NM_001018115.1(FANCD2) c.2860-162C>A,-:0.22,-:NOT_FOUND,- 3 10119882 . G . . NT END=10122783;NT GT ./. 3 10119917 rs6805869 T C 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.7885,C/0.2115;Gene=FANCD2/NM_033084.3/0;CC=c.2976+36T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2976+36T>C;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:41:4:0:0:1,21,19:10,629,602:0.01,60.89,0.00:-0.01,5.47,0.00:0.02,55.41,0.00:0.00,1.00,0.00:0.00,0.94,0.00:0.00,1.00,0.00:24,60,60:160.0,35.0,5.2:0,0,0:0,0,0:59,105,60:49,45,90:0,21,39:NM_001018115.1(FANCD2) c.2976+36T>C,-:0.21,-:0.252345,- 3 10122575 rs6442150 T C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8195,C/0.1805;Gene=FANCD2/NM_033084.3/0;CC=c.2977-209T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.2977-209T>C;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:C,T:5:5:0:0:4,1:139,30:14.72,0.00:14.72,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:46.0,24.0:0,0:0,0:55,6:96,145:25,0:NM_001018115.1(FANCD2) c.2977-209T>C,-:0.18,-:NOT_FOUND,- 3 10122913 . G . . NT END=10123029;NT GT ./. 3 10123149 . G . . NT END=10127495;NT GT ./. 3 10127607 . G . . NT END=10128817;NT GT ./. 3 10128635 rs33972700 A G 19 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.9629,G/0.03714;Gene=FANCD2/NM_033084.3/0;CC=c.3336-183A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.3336-183A>G;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*44-5420T>C;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:A,G:12:12:0:0:6,6:172,199:0.00,19.15:0.00,19.15:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:3.8,36.5:0,0:0,0:43,32:107,118:22,11:-,NM_001018115.1(FANCD2) c.3336-183A>G:-,0.04:-,NOT_FOUND 3 10128949 . G . . NT END=10130132;NT GT ./. 3 10128965 rs535944248 CT C 8 idl,rn VT=DEL;SST=Single;DP=42;DB;DBA=NA;PAF=CT/0.632,C/0.368;NP=5;Gene=FANCD2/NM_033084.3/0;CC=c.3466+36delT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.3466+36delT;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*44-5751delA;VC=Intron;DM=FANCD2/FancD2;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:CT,T,I,C:32:20:11:7:22,2,4,4:637,67,329,196:0.00,4.55,8.18,8.28:0.00,2.27,-0.39,4.62:0.00,2.28,8.57,3.65:0.00,0.00,0.00,0.58:0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.89:60,60,60,60:19.9,38.5,150.8,72.2:0,1,7,3:0,0,0,0:101,83,102,60:20,67,48,90:31,58,18,21:-,NM_001018115.1(FANCD2) c.3466+18delT:-,NOT_FOUND:-,NOT_FOUND 3 10130227 . G . . NT END=10130511;NT GT ./. 3 10130635 . G . . NT END=10131975;NT GT ./. 3 10132070 . G . . NT END=10133864;NT GT ./. 3 10133710 rs9849434 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7588,A/0.2412;Gene=FANCD2/NM_033084.3/0;CC=c.3778-155G>A;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.3778-155G>A;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*44-10495C>T;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G,T:8:8:0:0:3,4,1:97,113,11:9.04,0.00,0.49:9.04,0.00,0.49:0.00,0.00,0.00:0.67,0.00,0.00:0.67,0.00,0.00:0.00,0.00,0.00:60,60,60:43.0,19.2,21.0:0,0,0:0,0,0:44,14,108:107,127,41:32,11,0:NM_001018115.1(FANCD2) c.3778-155G>A,-:0.23,-:NOT_FOUND,- 3 10133937 . G . . NT END=10134968;NT GT ./. 3 10133949 rs9811771 A G 38 nt VT=SNV;PN=G;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.7458,G/0.2542;PC=0.166;Gene=FANCD2/NM_033084.3/0;CC=c.3849+13A>G;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.3849+13A>G;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*44-10734T>C;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:26:14:0:0:12,13,1:398,390,11:0.00,37.62,0.16:0.00,16.38,-0.07:0.00,21.24,0.22:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:6.8,34.8,101.0:0,0,0:0,0,0:94,99,135:56,52,16:32,37,0:-,NM_001018115.1(FANCD2) c.3849+13A>G:-,0.23:-,0.275411 3 10134115 rs148249750 A AT 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=27;Gene=FANCD2/NM_033084.3/0;CC=c.3849+190dupT;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.3849+190dupT;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*44-10901dupA;VC=Intron;DM=FANCD2/FancD2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,AT:7:0:4:0:3,4:62,129:0.00,12.76:0.00,0.00:0.00,12.76:0.00,0.90:0.00,0.00:0.00,0.90:60,60:137.7,0.0:0,0:0,0:102,114:48,36:13,14:-,NM_001018115.1(FANCD2) c.3849+179_3849+180insT:-,NOT_FOUND:-,NOT_FOUND 3 10135008 . G . . NT END=10135972;NT GT ./. 3 10136048 . G . . NT END=10136883;NT GT ./. 3 10136150 rs7610821 C T 37 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7588,T/0.2412;Gene=FANCD2/NM_033084.3/0;CC=c.3963+103C>T;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.3963+103C>T;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+9732G>A;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:19:2:0:0:7,1,11:203,10,373:0.00,0.21,37.33:0.00,0.00,3.49:0.00,0.21,33.85:0.00,0.00,1.00:0.00,0.00,0.85:0.00,0.00,1.00:60,60,60:8.0,196.0,47.5:0,0,0:0,0,0:90,95,62:61,56,89:14,0,29:-,NM_001018115.1(FANCD2) c.3963+103C>T:-,0.23:-,NOT_FOUND 3 10136959 . G . . NT END=10138009;NT GT ./. 3 10138069 rs2272125 T G 129 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.7578,G/0.2422;PC=1.000;Gene=FANCD2/NM_033084.3/0;CC=c.4098T>G;ProtCh=p.L1366=;VC=Silent;Gene=FANCD2/NM_001018115.1/1;CC=c.4098T>G;ProtCh=p.L1366=;VC=Silent;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+7813A>C;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:69:49:0:0:39,30:1308,953:128.91,0.00:78.56,0.00:50.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,11.2:0,0:0,0:86,79:64,71:42,27:NM_001018115.1(FANCD2) c.4098T>G (p.(=)),-:0.23,-:0.268568,- 3 10138157 . G . . NT END=10140403;NT GT ./. 3 10138189 rs2272124 T C 95 nt VT=SNV;PN=C;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.7582,C/0.2418;Gene=FANCD2/NM_033084.3/0;CC=c.4185+33T>C;VC=Intron;Gene=FANCD2/NM_001018115.1/1;CC=c.4185+33T>C;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+7693A>G;VC=Intron;DM=FANCD2/FancD2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:12:0:0:31,18:946,602:95.28,0.00:10.18,0.00:85.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.5,1.4:0,0:0,0:96,108:48,42:19,29:NM_001018115.1(FANCD2) c.4185+33T>C,-:0.23,-:0.268338,- 3 10140671 rs7626117 G A 109 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.6548,A/0.3452;Gene=FANCD2/NM_033084.3/0;CC=c.*37G>A;VC=3UTR;Gene=FANCD2/NM_001018115.1/1;CC=c.4281+172G>A;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+5211C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:51:0:0:36,37:1141,1234:109.26,0.00:69.67,0.00:39.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.1,2.6:0,0:0,0:102,90:48,59:27,44:NM_033084.3(FANCD2) c.*37G>A,-:0.31,-:0.373347,- 3 10140696 rs7647987 A G 98 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.7588,G/0.2412;Gene=FANCD2/NM_033084.3/0;CC=c.*62A>G;VC=3UTR;Gene=FANCD2/NM_001018115.1/1;CC=c.4281+197A>G;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+5186T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:72:51:0:0:37,35:1179,1036:0.00,98.48:0.00,57.70:0.00,40.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,62.4:0,0:0,0:82,69:61,80:40,47:-,NM_033084.3(FANCD2) c.*62A>G:-,0.23:-,NOT_FOUND 3 10141052 . a . . NT END=10142871;NT GT ./. 3 10141065 rs3826 T G 75 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.758,G/0.242;PC=0.028;Gene=FANCD2/NM_033084.3/0;CC=c.*431T>G;VC=3UTR;Gene=FANCD2/NM_001018115.1/1;CC=c.4281+566T>G;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+4817A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:43:17:0:0:23,20:768,656:74.85,0.00:19.94,0.00:54.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,6.7:0,0:0,0:93,97:58,53:27,21:NM_033084.3(FANCD2) c.*431T>G,-:0.23,-:NOT_FOUND,- 3 10141184 rs11716842 C T 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7939,A/.,T/0.2061;PC=0.017;Gene=FANCD2/NM_033084.3/0;CC=c.*550C>T;VC=3UTR;Gene=FANCD2/NM_001018115.1/1;CC=c.4281+685C>T;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+4698G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:0:0:0:7,10:231,331:0.00,32.87:0.00,0.00:0.00,32.87:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.9,50.6:0,0:0,0:58,83:93,64:31,29:-,NM_033084.3(FANCD2) c.*550C>T:-,0.24:-,NOT_FOUND 3 10142749 rs147278790 TA T 16 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=127;Gene=FANCD2/NM_001018115.1/1;CC=c.4282-109delA;VC=Intron;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+3132delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:TA,T:19:20:0:7:13,6:372,218:0.00,16.12:0.00,16.12:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:22.4,44.5:0,1:0,0:24,72:116,78:24,34:-,NM_001018115.1(FANCD2) c.4282-122delA:-,NOT_FOUND:-,NOT_FOUND 3 10142947 . A . . NT END=10145924;NT GT ./. 3 10142949 rs3172417 C T 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.7853,T/0.2147;PC=0.085;Gene=FANCD2/NM_001018115.1/1;CC=c.*3C>T;VC=3UTR;Gene=FANCD2OS/NM_173472.1/1;CC=c.*43+2933G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:27:0:0:25,26:794,831:0.00,80.13:0.00,27.24:0.00,52.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,42.5:0,0:0,0:84,81:57,69:38,29:-,NM_001018115.1(FANCD2) c.*3C>T:-,0.24:-,0.307243 3 10146467 . C . . NT END=10157385;NT GT ./. 3 10146616 rs371857382 ATTATT A 18 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=ATTATT/0.8163,A/0.1837;DB;DBA=NA;PAF=ATTATT/0.8163,A/0.1837;NP=12;PC=0.629;Gene=FANCD2OS/NM_173472.1/1;CC=c.-8-155_-8-151delAATAA;VC=Intron;Gene=FANCD2OS/NM_001164839.1/0;CC=c.-8-155_-8-151delAATAA;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:ATTATT,A:22:0:0:8:14,8:440,201:0.00,17.54:0.00,0.00:0.00,17.54:0.00,0.99:0.00,0.00:0.00,0.99:60,60:4.5,12.6:0,0:0,0:99,88:51,62:35,26:-,NM_173472.1(FANCD2OS) c.-8-155_-8-151delAATAA:-,0.17:-,NOT_FOUND 3 10157205 rs67852463 G C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8251,C/0.1749 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:C,G:13:13:0:0:8,5:274,156:27.46,0.00:27.46,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.5,14.4:0,0:0,0:20,32:129,118:15,18:NM_018462.4(BRK1) c.-53-u128G>C,-:0.17,-:NOT_FOUND,- 3 10157337 rs7645667 C A 60 nt VT=SNV;PN=G;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.8556,A/0.1444;PC=0.131;Gene=BRK1/NM_018462.4/1;CC=c.-49C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:49:42:0:0:21,28:649,922:60.38,0.00:37.56,0.00:22.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.8,7.8:0,0:0,0:42,49:107,100:19,18:NM_018462.4(BRK1) c.-49C>A,-:0.14,-:0.158992,- 3 10157368 rs7645759 C T 83 nt VT=SNV;PN=T;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.8329,T/0.1671;Gene=BRK1/NM_018462.4/1;CC=c.-18C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:54:0:0:39,28:1313,896:0.00,83.19:0.00,43.47:0.00,39.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.8,53.6:0,0:0,0:41,49:106,96:25,27:-,NM_018462.4(BRK1) c.-18C>T:-,0.15:-,0.1692 3 10157504 . G . . NT END=10167309;NT GT ./. 3 10167069 rs113268531 A G 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7915,G/0.2085;Gene=BRK1/NM_018462.4/1;CC=c.119-241A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:4:4:0:0:1,3:32,91:0.00,9.55:0.00,9.55:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:26.0,53.7:0,0:0,0:62,60:89,91:0,58:-,NM_018462.4(BRK1) c.119-241A>G:-,0.2:-,NOT_FOUND 3 10167112 rs17032426 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8329,A/0.1671,T/.;Gene=BRK1/NM_018462.4/1;CC=c.119-198G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:A,G:6:6:0:0:4,2:135,37:13.87,0.00:13.87,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:48.5,13.0:0,0:0,0:39,72:112,78:9,33:NM_018462.4(BRK1) c.119-198G>A,-:0.15,-:NOT_FOUND,- 3 10167264 rs67667957 G C 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.7933,C/0.2067;PC=0.148;Gene=BRK1/NM_018462.4/1;CC=c.119-46G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,G:22:19:0:0:16,6:529,211:54.91,0.00:37.75,0.00:17.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,0.0:0,0:0,0:31,31:112,114:16,16:NM_018462.4(BRK1) c.119-46G>C,-:0.19,-:0.210153,- 3 10167393 . G . . NT END=10167952;NT GT ./. 3 10167576 rs56087600 T A 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.8321,A/0.1679;PC=0.002;Gene=BRK1/NM_018462.4/1;CC=c.201+184T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,T:12:3:0:0:6,6:165,195:15.74,0.00:5.95,0.00:9.79,0.00:0.98,0.00:0.89,0.00:1.00,0.00:60,60:34.8,5.8:0,0:0,0:49,100:98,50:13,40:NM_018462.4(BRK1) c.201+184T>A,-:0.14,-:NOT_FOUND,- 3 10167790 rs56274701 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7915,A/0.2085;Gene=BRK1/NM_018462.4/1;CC=c.202-163G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:A,G:7:7:0:0:3,4:98,125:9.16,0.00:9.16,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:71.0,34.5:0,0:0,0:57,93:93,57:8,38:NM_018462.4(BRK1) c.202-163G>A,-:0.2,-:NOT_FOUND,- 3 10167980 . A . . NT END=10183531;NT GT ./. 3 10183241 rs397729629 C CAA 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1296,CAA/0.8704;DB;DBA=NA;PAF=C/0.1296,CAA/0.8704,CAAA/.;DB;DBA=NA;PAF=C/0.1296,CAA/0.8704;NP=59;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CAA:4:5:4:0:1,3:34,120:0.00,9.47:0.00,9.47:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:89.0,103.7:0,1:0,0:117,61:15,89:0,16:-,NM_000551.3(VHL) c.-213-u78_-213-u77insAA:-,NOT_FOUND:-,NOT_FOUND 3 10183274 rs779804 C T 21 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.122,T/0.878 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:T:7:7:0:0:7:176:20.84:20.84:0.00:1.00:1.00:0.00:60:71.6:0:0:45:106:37:NM_000551.3(VHL) c.-213-u45C>T,NM_000551.3(VHL) c.-213-u45C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 3 10183337 rs779805 G A 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4567,A/0.5433;PC=0.004;Gene=VHL/NM_000551.3/1;CC=c.-195G>A;VC=5UTR;Gene=VHL/NM_198156.2/0;CC=c.-195G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:26:0:0:15,11:459,319:45.37,0.00:45.37,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:80.3,12.4:0,0:0,0:43,23:103,127:21,10:NM_000551.3(VHL) c.-195G>A,-:0.58,-:NOT_FOUND,- 3 10183872 . G . . NT END=10188197;NT GT ./. 3 10184025 rs556405301 C CTT 13 idl,rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=2;NP=7;PC=0.005;Gene=VHL/NM_000551.3/1;CC=c.340+174_340+175insTT;VC=Intron;Gene=VHL/NM_198156.2/0;CC=c.340+174_340+175insTT;VC=Intron;DM=VHL/VHL;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,T,CTT,D:20:1:12:1:10,4,5,1:279,134,352,34:0.00,11.30,12.54,2.28:0.00,-0.03,-0.04,-0.01:0.00,11.34,12.59,2.29:0.00,0.00,0.82,0.00:0.00,0.00,0.46,0.00:0.00,0.00,0.82,0.00:60,60,60,60:19.8,102.8,8.8,0.0:1,3,7,0:0,0,0,0:146,100,68,58:5,50,82,91:4,10,33,0:-,NM_000551.3(VHL) c.340+154_340+155insTT:-,NOT_FOUND:-,NOT_FOUND 3 10188010 rs397792336 AC A 54 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=AC/0.2861,A/0.7139;DB;DBA=NA;PAF=AC/0.2861,A/0.7139;NP=1246;PC=0.001;Gene=VHL/NM_000551.3/1;CC=c.341-186delC;VC=Intron;Gene=VHL/NM_198156.2/0;CC=c.341-3459delC;VC=Intron;DM=VHL/VHL;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:AC,A:17:17:0:16:1,16:34,485:0.00,54.45:0.00,54.45:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,12.3:0,0:0,0:139,36:3,114:0,11:NM_000551.3(VHL) c.341-187delC,NM_000551.3(VHL) c.341-187delC:0.75,0.75:NOT_FOUND,NOT_FOUND 3 10188321 . G . . NT END=10191470;NT GT ./. 3 10188428 rs1678607 T G 70 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.151,G/0.849;PC=0.001;Gene=VHL/NM_000551.3/1;CC=c.463+108T>G;VC=Intron;Gene=VHL/NM_198156.2/0;CC=c.341-3043T>G;VC=Intron;DM=VHL/VHL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:1:0:0:21:605:70.37:1.94:68.43:1.00:1.00:1.00:60:38.7:0:0:84:67:28:NM_000551.3(VHL) c.463+108T>G,NM_000551.3(VHL) c.463+108T>G:0.79,0.79:NOT_FOUND,NOT_FOUND 3 10191219 rs1703153 C G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4411,G/0.5589;Gene=VHL/NM_000551.3/1;CC=c.464-252C>G;VC=Intron;Gene=VHL/NM_198156.2/0;CC=c.341-252C>G;VC=Intron;DM=VHL/VHL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,G:6:6:0:0:1,5:34,145:0.00,15.71:0.00,15.71:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:28.0,29.0:0,0:0,0:142,23:9,127:0,13:-,NM_000551.3(VHL) c.464-252C>G:-,0.59:-,NOT_FOUND 3 10191943 rs1642742 G A 139 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.4429,A/0.5571;PC=0.001;Gene=VHL/NM_000551.3/1;CC=c.*294G>A;VC=3UTR;Gene=VHL/NM_198156.2/0;CC=c.*294G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:57:0:0:46,52:1469,1734:139.40,0.00:59.97,0.00:79.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.3,12.3:0,0:0,0:68,80:81,68:24,35:NM_000551.3(VHL) c.*294G>A,-:0.59,-:NOT_FOUND,- 3 10192052 . t . . NT END=10206638;NT GT ./. 3 10206733 . G . . NT END=10219521;NT GT ./. 3 10219508 rs2306696 T C 96 nt VT=SNV;PN=C;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.8229,C/0.1771;Gene=IRAK2/NM_001570.3/1;CC=c.95-14T>C;VC=Intron;DM=IRAK2/Death GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:46:0:0:30,25:980,852:95.87,0.00:69.92,0.00:25.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,9.2:0,0:0,0:47,58:94,88:25,34:NM_001570.3(IRAK2) c.95-14T>C,-:0.17,-:0.160157,- 3 10219705 . G . . NT END=10242052;NT GT ./. 3 10219729 rs1681663 A G 75 nt VT=SNV;PN=G;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.4173,G/0.5827;Gene=IRAK2/NM_001570.3/1;CC=c.277+25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:22:0:0:30,25:969,797:0.00,75.14:0.00,22.04:0.00,53.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,42.2:0,0:0,0:93,109:58,38:18,24:-,NM_001570.3(IRAK2) c.277+25A>G:-,0.6:-,0.734046 3 10233707 rs56802078 A AGT 13 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6809,AGT/0.3191,AGTGT/.;DB;DBA=NA;PAF=A/0.6809,AGT/0.3191,AGTGT/.;NP=1;NP=2;NP=42;PC=0.320;Gene=IRAK2/NM_001570.3/1;CC=c.278-8308_278-8307insGT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AGT:6:5:4:0:2,4:69,123:0.00,12.55:0.00,6.02:0.00,6.52:0.00,0.93:0.00,0.99:0.00,0.99:60,60:13.5,9.8:0,0:0,0:44,64:101,87:12,8:-,NM_001570.3(IRAK2) c.278-8346_278-8345insGT:-,NOT_FOUND:-,NOT_FOUND 3 10241899 rs263409 G A 60 nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1102,A/0.8898;Gene=IRAK2/NM_001570.3/1;CC=c.278-154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:16:0:0:16:521:59.73:59.73:0.00:1.00:1.00:0.00:60:56.9:0:0:53:97:30:NM_001570.3(IRAK2) c.278-154G>A,NM_001570.3(IRAK2) c.278-154G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 10241987 rs263410 A C 71 nt VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.349,C/0.651;Gene=IRAK2/NM_001570.3/1;CC=c.278-66A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:48:44:0:0:24,24:770,745:0.00,71.44:0.00,60.61:0.00,10.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,41.3:0,0:0,0:39,51:109,100:28,35:-,NM_001570.3(IRAK2) c.278-66A>C:-,0.68:-,NOT_FOUND 3 10242200 . G . . NT END=10251272;NT GT ./. 3 10242243 rs263411 G A 88 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.4948,A/0.5052;PC=0.019;Gene=IRAK2/NM_001570.3/1;CC=c.424+44G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:15:0:0:27,31:930,952:88.50,0.00:12.60,0.00:75.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,8.9:0,0:0,0:87,103:51,48:45,34:NM_001570.3(IRAK2) c.424+44G>A,-:0.5,-:0.552173,- 3 10251196 rs459864 A G 85 nt VT=SNV;PN=T;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.3914,G/0.6086;PC=0.001;Gene=IRAK2/NM_001570.3/1;CC=c.425-77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:18:0:0:22:745:84.99:70.99:14.01:1.00:1.00:1.00:60:38.6:0:0:32:118:23:NM_001570.3(IRAK2) c.425-77A>G,NM_001570.3(IRAK2) c.425-77A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 3 10251377 . G . . NT END=10254890;NT GT ./. 3 10255002 rs35060588 C G 128 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=C/0.9677,G/0.03235,T/.;PC=0.011;Gene=IRAK2/NM_001570.3/1;CC=c.640C>G;ProtCh=p.R214G;VC=Missense;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:96:76:0:0:52,44:1624,1355:0.00,127.72:0.00,72.57:0.00,55.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,36.3:0,0:0,0:87,47:61,92:33,22:-,NM_001570.3(IRAK2) c.640C>G (p.Arg214Gly):-,0.04:-,0.044518 3 10255086 . G . . NT END=10255167;NT GT ./. 3 10255233 . G . . NT END=10258617;NT GT ./. 3 10257435 rs56682039 T TAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=268;NP=6;Gene=IRAK2/NM_001570.3/1;CC=c.789-1160_789-1159insCA;VC=Intron;DM=IRAK2/Pkinase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:T,TAC:4:4:2:0:2,2:63,67:0.00,6.45:0.00,6.60:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,60:0.0,0.0:0,0:0,0:73,66:21,84:66,45:-,NM_001570.3(IRAK2) c.789-1183_789-1182insAC:-,NOT_FOUND:-,NOT_FOUND 3 10258493 rs2302862 T C 69 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.48,C/0.52;PC=0.003;Gene=IRAK2/NM_001570.3/1;CC=c.789-125T>C;VC=Intron;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:602:69.21:69.21:0.00:1.00:1.00:0.00:60:75.6:0:0:34:117:22:NM_001570.3(IRAK2) c.789-125T>C,NM_001570.3(IRAK2) c.789-125T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 3 10258514 rs2302861 T C 83 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.4798,C/0.5202;Gene=IRAK2/NM_001570.3/1;CC=c.789-104T>C;VC=Intron;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:C:23:23:0:0:23:718:82.72:80.78:1.94:1.00:1.00:1.00:60:79.8:0:0:44:107:24:NM_001570.3(IRAK2) c.789-104T>C,NM_001570.3(IRAK2) c.789-104T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 3 10258733 . G . . NT END=10261363;NT GT ./. 3 10258762 rs2302860 G C 109 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.48,C/0.52,T/.;Gene=IRAK2/NM_001570.3/1;CC=c.903+30G>C;VC=Intron;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:6:0:0:31:944:109.15:15.96:93.20:1.00:1.00:1.00:60:42.0:0:0:114:35:23:NM_001570.3(IRAK2) c.903+30G>C,NM_001570.3(IRAK2) c.903+30G>C:0.55,0.55:0.734738,0.734738 3 10261237 rs3895949 A C 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4798,C/0.5202;PC=0.001;Gene=IRAK2/NM_001570.3/1;CC=c.904-127A>C;VC=Intron;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:240:27.34:27.34:0.00:1.00:1.00:0.00:60:111.9:0:0:13:138:11:NM_001570.3(IRAK2) c.904-127A>C,NM_001570.3(IRAK2) c.904-127A>C:0.53,0.53:NOT_FOUND,NOT_FOUND 3 10261248 rs3895948 T C 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4798,C/0.5202;Gene=IRAK2/NM_001570.3/1;CC=c.904-116T>C;VC=Intron;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:314:36.17:36.17:0.00:1.00:1.00:0.00:60:98.6:0:0:16:135:12:NM_001570.3(IRAK2) c.904-116T>C,NM_001570.3(IRAK2) c.904-116T>C:0.54,0.54:NOT_FOUND,NOT_FOUND 3 10261294 rs3895947 A G 71 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4375,G/0.5625;Gene=IRAK2/NM_001570.3/1;CC=c.904-70A>G;VC=Intron;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:21:0:0:22:606:70.96:61.22:9.74:1.00:1.00:1.00:60:64.0:0:0:35:115:20:NM_001570.3(IRAK2) c.904-70A>G,NM_001570.3(IRAK2) c.904-70A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 3 10261474 . G . . NT END=10264319;NT GT ./. 3 10261594 rs11465911 C T 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.6747,T/0.3253;Gene=IRAK2/NM_001570.3/1;CC=c.1013+121C>T;VC=Intron;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:402:46.81:0.00:46.81:1.00:0.00:1.00:60:44.7:0:0:86:64:28:NM_001570.3(IRAK2) c.1013+121C>T,NM_001570.3(IRAK2) c.1013+121C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 3 10264480 rs3844283 C G 322 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.7119,G/0.2881;PC=1.000;Gene=IRAK2/NM_001570.3/1;CC=c.1174C>G;ProtCh=p.L392V;VC=Missense;DM=IRAK2/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:52:0:0:84:2823:322.36:140.51:181.85:1.00:1.00:1.00:60:38.3:0:0:79:69:31:NM_001570.3(IRAK2) c.1174C>G (p.Leu392Val),NM_001570.3(IRAK2) c.1174C>G (p.Leu392Val):0.3,0.3:0.356066,0.356066 3 10264516 . G . . NT END=10268054;NT GT ./. 3 10268118 . G . . NT END=10276142;NT GT ./. 3 10276163 rs708035 T A 257 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.1729,A/0.8271;PC=0.999;Gene=IRAK2/NM_001570.3/1;CC=c.1293T>A;ProtCh=p.D431E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:62:0:0:70:2235:256.81:187.74:69.07:1.00:1.00:1.00:60:41.2:0:0:69:74:33:NM_001570.3(IRAK2) c.1293T>A (p.Asp431Glu),NM_001570.3(IRAK2) c.1293T>A (p.Asp431Glu):0.79,0.79:0.677764,0.677764 3 10276344 . G . . NT END=10280431;NT GT ./. 3 10280233 rs778044 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1763,T/0.8237;Gene=IRAK2/NM_001570.3/1;CC=c.1474-199C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:123:14.21:14.21:0.00:1.00:1.00:0.00:60:86.8:0:0:27:118:21:NM_001570.3(IRAK2) c.1474-199C>T,NM_001570.3(IRAK2) c.1474-199C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 3 10280724 . G . . NT END=10283799;NT GT ./. 3 10280753 rs11465932 G A 208 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.616,A/0.384;Gene=IRAK2/NM_001570.3/1;CC=c.1765+30G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:26:0:0:60:1798:208.27:58.19:150.08:1.00:1.00:1.00:60:37.3:0:0:108:40:21:NM_001570.3(IRAK2) c.1765+30G>A,NM_001570.3(IRAK2) c.1765+30G>A:0.39,0.39:0.433492,0.433492 3 10283670 rs73028497 G GA 24 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.3101,GA/0.6899;DB;DBA=NA;PAF=G/0.3101,GA/0.6899;DB;DBA=NA;PAF=NA;NP=107;NP=373;NP=5;PC=0.001;Gene=IRAK2/NM_001570.3/1;CC=c.1766-117dupA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,G,GA:9:11:9:0:1,1,7:29,34,291:2.30,0.00,24.13:2.30,0.00,24.13:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:123.0,9.0,41.1:1,0,2:0,0,0:67,19,34:70,132,117:0,0,20:-,NM_001570.3(IRAK2) c.1766-130_1766-129insA:-,NOT_FOUND:-,NOT_FOUND 3 10283716 rs796552 A G 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.1785,G/0.8215;PC=0.007;Gene=IRAK2/NM_001570.3/1;CC=c.1766-84A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:18:0:0:19:503:59.24:51.94:7.30:1.00:1.00:1.00:60:42.5:0:0:55:96:33:NM_001570.3(IRAK2) c.1766-84A>G,NM_001570.3(IRAK2) c.1766-84A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 10283913 . T . . NT END=10290884;NT GT ./. 3 10291299 . G . . NT END=10301820;NT GT ./. 3 10301805 rs199783527 G GT 13 idl,rn VT=INS;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=33;Gene=TATDN2/NM_014760.3/1;CC=c.415-6dupT;VC=Intron;DM=TATDN2/TatD_DNase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:G,GT,D:72:65:8:1:65,6,1:2183,260,32:0.00,13.24,1.43:0.00,12.46,1.53:0.00,0.77,-0.09:0.00,0.79,0.00:0.00,0.98,0.00:0.00,0.74,0.00:60,60,60:13.3,15.5,61.0:0,2,0:0,0,0:57,56,11:86,87,137:26,9,0:-,NM_014760.3(TATDN2) c.415-16_415-15insT:-,0.05:-,NOT_FOUND 3 10302355 . G . . NT END=10311814;NT GT ./. 3 10302479 rs402330 G A 70 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.02137,A/0.9786;PC=0.001;Gene=TATDN2/NM_014760.3/1;CC=c.948+125G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A,T:22:1:0:0:21,1:607,10:70.18,0.34:1.93,0.00:68.25,0.34:1.00,0.00:0.97,0.00:1.00,0.00:60,60:50.9,139.0:0,0:0,0:84,121:65,30:37,0:NM_014760.3(TATDN2) c.948+125G>A,NM_014760.3(TATDN2) c.948+125G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 10302550 . C CT 8 rn VT=INS;SST=Single;DP=12;NP=1;Gene=TATDN2/NM_014760.3/1;CC=c.948+210dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,CT,D:11:1:4:1:7,3,1:208,123,30:0.00,8.06,2.14:0.00,-0.06,-0.02:0.00,8.12,2.15:0.00,0.59,0.00:0.00,0.50,0.00:0.00,0.59,0.00:60,60,60:46.9,44.7,31.0:0,1,0:0,0,0:112,105,128:35,44,23:12,13,0:-,NM_014760.3(TATDN2) c.948+196_948+197insT:-,NOT_FOUND:-,NOT_FOUND 3 10312700 . G . . NT END=10318044;NT GT ./. 3 10318173 . G . . NT END=10319962;NT GT ./. 3 10318230 rs397808792 A AT 97 nt VT=INS;SST=Single;DP=73;DB;DBA=NA;PAF=A/0.6767,AT/0.3233;DB;DBA=NA;PAF=A/0.6767,AT/0.3233;NP=1884;Gene=TATDN2/NM_014760.3/1;CC=c.1961+59dupT;VC=Intron;DM=TATDN2/TatD_DNase;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:73:28:33:0:40,33:1200,1033:0.00,97.26:0.00,30.54:0.00,66.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,14.8:0,0:0,0:111,85:35,63:26,28:-,NM_014760.3(TATDN2) c.1961+58_1961+59insT:-,NOT_FOUND:-,NOT_FOUND 3 10318275 . C CT 7 idl,rn VT=DEL;SST=Single;DP=50;NP=1;Gene=TATDN2/NM_014760.3/1;CC=c.1961+117_1961+118insT;VC=Intron;DM=TATDN2/TatD_DNase;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:2:C,CT,D:48:10:4:8:40,4,4:1209,114,180:0.00,7.49,7.49:0.00,-0.27,-0.27:0.00,7.76,7.76:0.00,0.00,0.55:0.00,0.00,0.50:0.00,0.00,0.92:60,60,60:20.3,19.5,10.5:0,0,2:0,0,0:117,75,93:31,75,57:21,27,24:-,NM_014760.3(TATDN2) c.1961+103_1961+104insT:-,NOT_FOUND:-,NOT_FOUND 3 10319720 rs4684675 G T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2145,T/0.7855;Gene=TATDN2/NM_014760.3/1;CC=c.1962-243G>T;VC=Intron;DM=TATDN2/TatD_DNase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:G,T:15:15:0:0:10,5:300,155:0.00,13.75:0.00,13.75:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:42.4,82.6:0,0:0,0:114,60:36,91:23,36:-,NM_014760.3(TATDN2) c.1962-243G>T:-,0.79:-,NOT_FOUND 3 10320147 . G . . NT END=10320568;NT GT ./. 3 10320710 . G . . NT END=10327558;NT GT ./. 3 10320865 rs2075355 A G 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3233,G/0.6767;Gene=TATDN2/NM_014760.3/1;CC=c.*39-40A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G:17:0:0:0:6,11:196,360:0.00,36.45:0.00,0.00:0.00,36.45:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,49.4:0,0:0,0:109,106:41,43:22,38:-,NM_014760.3(TATDN2) c.*39-40A>G:-,0.66:-,0.631187 3 10320968 rs1063429 T A 8 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7173,A/0.2827;PC=0.419;Gene=TATDN2/NM_014760.3/1;CC=c.*102T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,T:4:0:0:0:3,1:76,33:8.00,0.00:0.00,0.00:8.00,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:80.7,0.0:0,0:0,0:131,95:20,56:2,0:NM_014760.3(TATDN2) c.*102T>A,-:0.32,-:NOT_FOUND,- 3 10327579 . C . . NT END=10328387;NT GT ./. 3 10328497 . C . . NT END=10331445;NT GT ./. 3 10331563 . C . . NT END=10331756;NT GT ./. 3 10331894 . C . . NT END=10332399;NT GT ./. 3 10332365 rs26802 T G 76 nt VT=SNV;PN=G;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.7135,G/0.2865;Gene=GHRLOS/NR_004431.3/0;VC=NonCoding;Gene=GHRLOS/NR_024144.2/0;VC=NonCoding;Gene=GHRLOS/NR_024145.2/0;VC=NonCoding;Gene=GHRLOS/NR_073566.1/1;VC=NonCoding;Gene=GHRLOS/NR_073567.1/0;VC=NonCoding;Gene=GHRLOS/NR_073568.1/0;VC=NonCoding;Gene=GHRL/NM_001134941.2/0;CC=c.-30+35A>C;VC=Intron;Gene=GHRL/NM_001134944.1/1;CC=c.73-803A>C;VC=Intron;Gene=GHRL/NM_001134945.1/0;CC=c.73-806A>C;VC=Intron;Gene=GHRL/NM_001134946.1/0;CC=c.72+2161A>C;VC=Intron;Gene=GHRL/NM_001302821.1/0;CC=c.-30+35A>C;VC=Intron;Gene=GHRL/NM_001302822.1/0;CC=c.-30+35A>C;VC=Intron;Gene=GHRL/NM_001302823.1/0;CC=c.-30+35A>C;VC=Intron;Gene=GHRL/NM_001302824.1/0;CC=c.-30+35A>C;VC=Intron;Gene=GHRL/NM_001302825.1/0;CC=c.-29-472A>C;VC=Intron;Gene=GHRL/NM_016362.4/0;CC=c.-30+35A>C;VC=Intron;Gene=GHRL/NR_126505.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:48:0:0:24,28:805,872:76.37,0.00:51.24,0.00:25.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.4,24.4:0,0:0,0:55,28:95,117:27,14:NM_001134944.1(GHRL) c.73-803A>C,-:0.26,-:NOT_FOUND,- 3 10332468 rs27647 C T 281 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.2027,T/0.7973;Gene=GHRLOS/NR_004431.3/0;VC=NonCoding;Gene=GHRLOS/NR_024144.2/0;VC=NonCoding;Gene=GHRLOS/NR_024145.2/0;VC=NonCoding;Gene=GHRLOS/NR_073566.1/1;VC=NonCoding;Gene=GHRLOS/NR_073567.1/0;VC=NonCoding;Gene=GHRLOS/NR_073568.1/0;VC=NonCoding;Gene=GHRL/NM_001134941.2/0;CC=c.-98G>A;VC=5UTR;Gene=GHRL/NM_001134944.1/1;CC=c.73-906G>A;VC=Intron;Gene=GHRL/NM_001134945.1/0;CC=c.73-909G>A;VC=Intron;Gene=GHRL/NM_001134946.1/0;CC=c.72+2058G>A;VC=Intron;Gene=GHRL/NM_001302821.1/0;CC=c.-98G>A;VC=5UTR;Gene=GHRL/NM_001302822.1/0;CC=c.-98G>A;VC=5UTR;Gene=GHRL/NM_001302823.1/0;CC=c.-98G>A;VC=5UTR;Gene=GHRL/NM_001302824.1/0;CC=c.-98G>A;VC=5UTR;Gene=GHRL/NM_001302825.1/0;CC=c.-29-575G>A;VC=Intron;Gene=GHRL/NM_016362.4/0;CC=c.-98G>A;VC=5UTR;Gene=GHRL/NR_126505.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:77:61:0:0:77:2443:280.89:176.05:104.84:1.00:1.00:1.00:60:41.7:0:0:65:79:47:NM_001134944.1(GHRL) c.73-906G>A,NM_001134944.1(GHRL) c.73-906G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 3 10333136 . C . . NT END=10334525;NT GT ./. 3 10334598 . C . . NT END=10342789;NT GT ./. 3 10342876 rs696221 C T 522 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.2292,T/0.7708;Gene=SEC13/NM_001136232.2/0;CC=c.*69G>A;VC=3UTR;Gene=SEC13/NM_001136026.2/1;CC=c.*69G>A;VC=3UTR;Gene=SEC13/NM_030673.3/0;CC=c.*69G>A;VC=3UTR;Gene=SEC13/NM_183352.2/0;CC=c.*69G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:148:106:0:0:148:4518:521.84:284.68:237.16:1.00:1.00:1.00:60:38.9:0:0:62:86:35:NM_183352.1(SEC13) c.*69G>A,NM_183352.1(SEC13) c.*69G>A:0.74,0.74:0.590164,0.590164 3 10343059 . C . . NT END=10345709;NT GT ./. 3 10343244 rs35673 G A 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8219,A/0.1781;PC=0.002;Gene=SEC13/NM_001136232.2/0;CC=c.814-186C>T;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.994-186C>T;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.865-186C>T;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.856-186C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:0:0:0:10,7:310,242:30.77,0.00:0.00,0.00:30.77,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.5,4.9:0,0:0,0:112,121:38,29:34,15:NM_183352.1(SEC13) c.856-186C>T,-:0.18,-:NOT_FOUND,- 3 10345857 . C . . NT END=10346716;NT GT ./. 3 10345921 rs40515 C T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8173,T/0.1827;Gene=SEC13/NM_001136232.2/0;CC=c.667-65G>A;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.847-65G>A;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.718-65G>A;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.709-65G>A;VC=Intron;DM=SEC13/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:5:0:0:16,8:549,256:0.00,22.78:0.00,4.05:0.00,18.73:0.00,0.99:0.00,0.86:0.00,1.00:60,60:17.6,44.9:0,0:0,0:115,89:34,61:18,41:-,NM_183352.1(SEC13) c.709-65G>A:-,0.19:-,NOT_FOUND 3 10346841 . C . . NT END=10347242;NT GT ./. 3 10346995 rs541578185 G GT 57 nt VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.4044,GT/.,GTA/0.523,GTAA/0.01657,GTT/0.05611;NP=74;Gene=SEC13/NM_001136232.2/0;CC=c.543-156dupA;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.723-156dupA;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.594-156dupA;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.585-156dupA;VC=Intron;DM=SEC13/WD40;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:44:11:19:0:25,19:822,612:0.00,57.20:0.00,15.39:0.00,41.81:0.00,1.00:0.00,0.99:0.00,1.00:60,60:10.9,5.4:20,0:0,0:108,72:43,79:37,28:-,NM_183352.1(SEC13) c.585-156_585-155insA:-,NOT_FOUND:-,NOT_FOUND 3 10346996 rs568417875 T TA 56 rn VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.9994,A/0.000599;NP=1;NP=2;NP=842;Gene=SEC13/NM_001136232.2/0;CC=c.543-157dupT;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.723-157dupT;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.594-157dupT;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.585-157dupT;VC=Intron;DM=SEC13/WD40;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA:44:12:20:0:1,24,19:31,754,635:1.69,0.00,56.44:-0.06,0.00,18.49:1.75,0.00,37.95:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:31.0,7.0,10.5:0,19,1:0,0,0:0,83,86:151,67,64:0,33,40:-,NM_183352.1(SEC13) c.585-157_585-156insT:-,NOT_FOUND:-,NOT_FOUND 3 10347377 . C . . NT END=10353259;NT GT ./. 3 10347707 rs154235 G A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1464,A/0.8536;Gene=SEC13/NM_001136232.2/0;CC=c.409-331C>T;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.589-331C>T;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.460-331C>T;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.451-331C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:0:0:0:4:98:11.65:0.00:11.65:1.00:0.00:1.00:60:89.5:0:0:137:13:2:NM_183352.1(SEC13) c.451-331C>T,NM_183352.1(SEC13) c.451-331C>T:0.82,0.82:NOT_FOUND,NOT_FOUND 3 10353278 rs703915 A T 54 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.7626,T/0.2374;PC=0.003;Gene=SEC13/NM_001136232.2/0;CC=c.408+371T>A;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.588+371T>A;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.459+371T>A;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.450+371T>A;VC=Intron;Gene=SEC13/NM_001278946.1/0;CC=c.*236T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:51:47:0:0:33,18:1039,597:0.00,53.93:0.00,43.32:0.00,10.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,41.6:0,0:0,0:30,42:114,106:19,22:-,NM_183352.1(SEC13) c.450+371T>A:-,0.25:-,NOT_FOUND 3 10353550 rs35670 T C 160 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=107;DB;DBA=NA;PAF=T/0.8177,C/0.1823;Gene=SEC13/NM_001136232.2/0;CC=c.408+99A>G;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.588+99A>G;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.459+99A>G;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.450+99A>G;VC=Intron;Gene=SEC13/NM_001278946.1/0;CC=c.549A>G;ProtCh=p.G183=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:107:71:0:0:51,56:1674,1772:159.54,0.00:71.38,0.00:88.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.3,8.1:0,0:0,0:80,63:70,86:23,25:NM_183352.1(SEC13) c.450+99A>G,-:0.18,-:NOT_FOUND,- 3 10353626 rs35671 C T 163 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=C/0.8037,T/0.1963;Gene=SEC13/NM_001136232.2/0;CC=c.408+23G>A;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.588+23G>A;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.459+23G>A;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.450+23G>A;VC=Intron;Gene=SEC13/NM_001278946.1/0;CC=c.473G>A;ProtCh=p.R158H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:113:77:0:0:61,52:1953,1724:0.00,163.34:0.00,79.02:0.00,84.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,54.9:0,0:0,0:89,74:60,75:41,40:-,NM_183352.1(SEC13) c.450+23G>A:-,0.19:-,0.233892 3 10353783 . C . . NT END=10354262;NT GT ./. 3 10354415 . C . . NT END=10357004;NT GT ./. 3 10357121 . C . . NT END=10359733;NT GT ./. 3 10359462 rs28349 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1362,G/0.8638;PC=0.002;Gene=SEC13/NM_001136232.2/0;CC=c.6+272T>C;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.186+272T>C;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.57+272T>C;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.48+272T>C;VC=Intron;Gene=SEC13/NM_001278946.1/0;CC=c.48+272T>C;VC=Intron;DM=SEC13/WD40;DM=SEC13/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:5:5:0:0:2,3:64,73:0.00,7.23:0.00,7.23:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:18.5,53.3:0,0:0,0:27,118:123,32:11,2:-,NM_183352.1(SEC13) c.48+272T>C:-,0.86:-,NOT_FOUND 3 10359779 . C . . NT END=10360822;NT GT ./. 3 10360009 rs83604 G A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8025,A/0.1975;Gene=SEC13/NM_001136232.2/0;CC=c.-39-231C>T;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.142-231C>T;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.13-231C>T;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.4-231C>T;VC=Intron;Gene=SEC13/NM_001278946.1/0;CC=c.4-231C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:5:0:0:0:3,2:94,70:9.37,0.00:0.00,0.00:9.37,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:31.3,0.0:0,0:0,0:143,66:8,85:4,9:NM_183352.1(SEC13) c.4-231C>T,-:0.19,-:NOT_FOUND,- 3 10361001 . C . . NT END=10362192;NT GT ./. 3 10362003 rs9832780 T C 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9365,C/0.0635;Gene=SEC13/NM_001136232.2/0;CC=c.-40+552A>G;VC=Intron;Gene=SEC13/NM_001136026.2/1;CC=c.-38+731A>G;VC=Intron;Gene=SEC13/NM_030673.3/0;CC=c.-23+731A>G;VC=Intron;Gene=SEC13/NM_183352.2/0;CC=c.3+731A>G;VC=Intron;Gene=SEC13/NM_001278946.1/0;CC=c.3+731A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,T:7:7:0:0:6,1:197,33:21.31,0.00:21.31,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.0,0.0:0,0:0,0:58,28:92,122:22,0:NM_183352.1(SEC13) c.3+731A>G,-:0.06,-:NOT_FOUND,- 3 10362737 . G . . NT END=10370496;NT GT ./. 3 10362861 rs28528844 G T 137 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.9675,A/.,T/0.03255;Gene=SEC13/NM_001136026.2/1;CC=c.-165C>A;VC=5UTR;Gene=SEC13/NM_030673.3/0;CC=c.-150C>A;VC=5UTR;Gene=SEC13/NM_183352.2/0;CC=c.-125C>A;VC=5UTR;Gene=SEC13/NM_001278946.1/0;CC=c.-125C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:86:40:0:0:43,43:1286,1426:0.00,137.25:0.00,42.92:0.00,94.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,41.5:0,0:0,0:101,105:46,46:25,23:-,NM_183352.1(SEC13) c.-119-u6C>A:-,0.03:-,NOT_FOUND 3 10370486 rs4327369 G C 105 nt VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.5377,C/0.4623;PC=0.955;Gene=ATP2B2/NM_001001331.2/1;CC=c.*12C>G;VC=3UTR;Gene=ATP2B2/NM_001683.3/0;CC=c.*12C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:66:50:0:0:33,33:1096,1099:105.43,0.00:62.36,0.00:43.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,13.8:0,0:0,0:53,64:97,76:29,25:NM_001001331.2(ATP2B2) c.*12C>G,-:0.42,-:0.311241,- 3 10370810 . C . . NT END=10373666;NT GT ./. 3 10370883 . C G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;Gene=ATP2B2/NM_001001331.2/1;CC=c.3421-74G>C;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.3286-74G>C;VC=Intron;DM=ATP2B2/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:C,G:46:12:0:0:38,8:907,127:0.00,7.46:0.00,-0.79:0.00,8.25:0.00,0.97:0.00,0.84:0.00,1.00:60,60:39.9,82.1:0,0:0,0:108,78:36,58:24,23:-,NM_001001331.2(ATP2B2) c.3421-74G>C:-,NOT_FOUND:-,NOT_FOUND 3 10373722 . C . . NT END=10377812;NT GT ./. 3 10377511 rs26800 G A,C 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1458,A/0.8542;DM=ATP2B2/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:A,C:4:4:0:0:3,1:101,12:11.16,1.08:11.16,1.08:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:56.3,130.0:0,0:0,0:30,101:121,50:2,0:NM_001001331.2(ATP2B2) c.3420+2349C>T,NM_001001331.2(ATP2B2) c.3420+2349C>G:0.82,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 10377650 rs26801 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6522,T/0.3478;Gene=ATP2B2/NM_001001331.2/1;CC=c.3420+2210G>A;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.3285+2210G>A;VC=Intron;DM=ATP2B2/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:C,T:11:11:0:0:6,5:198,163:0.00,15.39:0.00,15.39:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,34.6:0,0:0,0:21,37:129,114:14,35:-,NM_001001331.2(ATP2B2) c.3420+2210G>A:-,0.35:-,NOT_FOUND 3 10377985 . C . . NT END=10379858;NT GT ./. 3 10379603 rs40336 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4569,C/0.5431;Gene=ATP2B2/NM_001001331.2/1;CC=c.3420+257A>G;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.3285+257A>G;VC=Intron;DM=ATP2B2/ATP_Ca_trans_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:60:34.2:0:0:45:104:20:NM_001001331.2(ATP2B2) c.3420+257A>G,NM_001001331.2(ATP2B2) c.3420+257A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 3 10379923 rs35678 C T 494 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=C/0.4321,T/0.5679;Gene=ATP2B2/NM_001001331.2/1;CC=c.3357G>A;ProtCh=p.A1119=;VC=Silent;Gene=ATP2B2/NM_001683.3/0;CC=c.3222G>A;ProtCh=p.A1074=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:129:103:0:0:129:4325:493.84:282.35:211.49:1.00:1.00:1.00:60:43.1:0:0:80:61:32:NM_001001331.2(ATP2B2) c.3357G>A (p.(=)),NM_001001331.2(ATP2B2) c.3357G>A (p.(=)):0.53,0.53:0.456328,0.456328 3 10380043 . C . . NT END=10381924;NT GT ./. 3 10380209 rs28131 T C 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3217,C/0.6783;PC=0.006;Gene=ATP2B2/NM_001001331.2/1;CC=c.3238-167A>G;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.3103-167A>G;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:1:6:167:19.50:0.00:19.50:1.00:0.00:1.00:60:58.8:1:0:116:23:29:NM_001001331.2(ATP2B2) c.3238-167A>G,NM_001001331.2(ATP2B2) c.3238-167A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 3 10381784 rs154243 A G 101 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.1801,G/0.8199;Gene=ATP2B2/NM_001001331.2/1;CC=c.3237+142T>C;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.3102+142T>C;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:26:0:0:26:887:101.10:99.06:2.04:1.00:1.00:1.00:60:41.5:0:0:44:106:29:NM_001001331.2(ATP2B2) c.3237+142T>C,NM_001001331.2(ATP2B2) c.3237+142T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 3 10382034 . C . . NT END=10382175;NT GT ./. 3 10382111 rs171337 T C 262 nt VT=SNV;PN=G;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.241,C/0.759;Gene=ATP2B2/NM_001001331.2/1;CC=c.3129+66A>G;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.2994+66A>G;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:48:0:0:71:2286:262.28:157.70:104.58:1.00:1.00:1.00:60:65.0:0:0:68:83:44:NM_001001331.2(ATP2B2) c.3129+66A>G,NM_001001331.2(ATP2B2) c.3129+66A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 3 10382148 rs154242 G A 311 nt VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.2414,A/0.7586;Gene=ATP2B2/NM_001001331.2/1;CC=c.3129+29C>T;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.2994+29C>T;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:84:63:0:0:84:2712:311.18:195.15:116.03:1.00:1.00:1.00:60:57.3:0:0:47:102:30:NM_001001331.2(ATP2B2) c.3129+29C>T,NM_001001331.2(ATP2B2) c.3129+29C>T:0.71,0.71:0.614793,0.614793 3 10382389 . C . . NT END=10384434;NT GT ./. 3 10382460 . C T 78 nt VT=SNV;PN=T;NN=G;SST=Single;DP=45;NP=5;Gene=ATP2B2/NM_001001331.2/1;CC=c.2918-72G>A;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.2783-72G>A;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:16:0:0:20,25:601,793:0.00,77.84:0.00,20.03:0.00,57.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.6,39.1:0,0:0,0:113,120:38,28:18,19:-,NM_001001331.2(ATP2B2) c.2918-72G>A:-,NOT_FOUND:-,NOT_FOUND 3 10382537 rs709640 T G 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.4036,G/0.5964;Gene=ATP2B2/NM_001001331.2/1;CC=c.2918-149A>C;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.2783-149A>C;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G,T:17:0:0:0:16,1:510,12:57.11,0.00:0.00,0.00:57.11,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:59.6,85.0:0,0:0,0:67,20:82,131:21,0:NM_001001331.2(ATP2B2) c.2918-149A>C,NM_001001331.2(ATP2B2) c.2918-149A>C:0.55,0.55:NOT_FOUND,NOT_FOUND 3 10382638 rs709641 A G 27 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5659,G/0.4341;PC=0.053;Gene=ATP2B2/NM_001001331.2/1;CC=c.2918-250T>C;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.2783-250T>C;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:234:26.74:1.74:25.00:1.00:1.00:1.00:60:55.9:0:0:104:43:19:NM_001001331.2(ATP2B2) c.2918-250T>C,NM_001001331.2(ATP2B2) c.2918-250T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 3 10384650 . C . . NT END=10387066;NT GT ./. 3 10387059 rs241509 C A 219 nt VT=SNV;PN=G;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.5933,A/0.4067;PC=0.012;Gene=ATP2B2/NM_001001331.2/1;CC=c.2703+9G>T;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.2568+9G>T;VC=Intron;DM=ATP2B2/Cation_ATPase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:A:60:56:0:0:60:1906:219.00:154.93:64.07:1.00:1.00:1.00:60:39.1:0:0:56:91:28:NM_001001331.2(ATP2B2) c.2703+9G>T,NM_001001331.2(ATP2B2) c.2703+9G>T:0.41,0.41:0.331078,0.331078 3 10387260 . C . . NT END=10387713;NT GT ./. 3 10387822 . C . . NT END=10391794;NT GT ./. 3 10391884 . C . . NT END=10392080;NT GT ./. 3 10392262 . C . . NT END=10400373;NT GT ./. 3 10400231 rs3774178 T C 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6246,C/0.3754;PC=0.002;Gene=ATP2B2/NM_001001331.2/1;CC=c.2136+144A>G;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.2001+144A>G;VC=Intron;DM=ATP2B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:C,T:13:13:0:0:5,8:143,236:12.92,0.00:12.92,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:35.0,29.6:0,0:0,0:27,51:124,99:24,14:NM_001001331.2(ATP2B2) c.2136+144A>G,-:0.37,-:NOT_FOUND,- 3 10400610 . C . . NT END=10401564;NT GT ./. 3 10400643 rs28113 G A 132 nt VT=SNV;PN=A;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.3227,A/0.6773;Gene=ATP2B2/NM_001001331.2/1;CC=c.1902-34C>T;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.1767-34C>T;VC=Intron;DM=ATP2B2/HAD;DM=ATP2B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:31:0:0:39,27:1324,863:131.64,0.00:37.57,0.00:94.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,6.8:0,0:0,0:102,104:45,44:21,17:NM_001001331.2(ATP2B2) c.1902-34C>T,-:0.64,-:0.49823,- 3 10401808 . C . . NT END=10413491;NT GT ./. 3 10401856 rs2278554 G T 159 nt VT=SNV;PN=G;NN=A;SST=Single;DP=139;DB;DBA=NA;PAF=G/0.5972,T/0.4028;Gene=ATP2B2/NM_001001331.2/1;CC=c.1660-49C>A;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.1525-49C>A;VC=Intron;DM=ATP2B2/HAD;DM=ATP2B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:139:76:0:0:84,55:2722,1731:0.00,158.84:0.00,46.31:0.00,112.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,40.6:0,0:0,0:73,87:73,60:40,34:-,NM_001001331.2(ATP2B2) c.1660-49C>A:-,0.4:-,0.284641 3 10402103 rs2278556 G A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.5948,A/0.4052;PC=0.001;Gene=ATP2B2/NM_001001331.2/1;CC=c.1660-296C>T;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.1525-296C>T;VC=Intron;DM=ATP2B2/HAD;DM=ATP2B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:A,G:15:0:0:0:6,9:191,302:17.58,0.00:0.00,0.00:17.58,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:51.3,5.6:0,0:0,0:69,83:71,68:53,44:NM_001001331.2(ATP2B2) c.1660-296C>T,-:0.4,-:NOT_FOUND,- 3 10413341 rs55970333 C G 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.3718,G/0.6282;Gene=ATP2B2/NM_001001331.2/1;CC=c.1659+152G>C;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.1524+152G>C;VC=Intron;DM=ATP2B2/HAD;DM=ATP2B2/HAD GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:27:0:0:11,16:356,543:0.00,54.02:0.00,54.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.3,39.3:0,0:0,0:39,52:112,98:26,25:-,NM_001001331.2(ATP2B2) c.1659+152G>C:-,0.56:-,NOT_FOUND 3 10413715 rs2289274 G A 165 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.723,A/0.277;PC=1.000;Gene=ATP2B2/NM_001001331.2/1;CC=c.1437C>T;ProtCh=p.N479=;VC=Silent;Gene=ATP2B2/NM_001683.3/0;CC=c.1302C>T;ProtCh=p.N434=;VC=Silent;DM=ATP2B2/HAD;DM=ATP2B2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:107:59:0:0:55,52:1709,1665:164.89,0.00:67.09,0.00:97.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,10.4:0,0:0,0:100,75:50,74:32,35:NM_001001331.2(ATP2B2) c.1437C>T (p.(=)),-:0.25,-:0.257881,- 3 10413736 . C . . NT END=10417112;NT GT ./. 3 10417329 . C . . NT END=10419934;NT GT ./. 3 10420095 . C . . NT END=10420926;NT GT ./. 3 10420969 . C . . NT END=10426951;NT GT ./. 3 10427012 . C . . NT END=10428163;NT GT ./. 3 10428197 . C . . NT END=10429959;NT GT ./. 3 10430087 . C . . NT END=10442635;NT GT ./. 3 10442763 . C . . NT END=10443773;NT GT ./. 3 10443000 rs759692 C T 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.851,T/0.149;Gene=ATP2B2/NM_001001331.2/1;CC=c.656-238G>A;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.656-238G>A;VC=Intron;DM=ATP2B2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:0:0:0:5:133:15.61:0.00:15.61:1.00:0.00:1.00:60:55.8:0:0:118:32:16:NM_001001331.2(ATP2B2) c.656-238G>A,NM_001001331.2(ATP2B2) c.656-238G>A:0.13,0.13:NOT_FOUND,NOT_FOUND 3 10443827 rs13084776 G C 452 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.8307,C/0.1693;PC=0.995;Gene=ATP2B2/NM_001001331.2/1;CC=c.603C>G;ProtCh=p.V201=;VC=Silent;Gene=ATP2B2/NM_001683.3/0;CC=c.603C>G;ProtCh=p.V201=;VC=Silent;DM=ATP2B2/E1-E2_ATPase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:118:85:0:0:117,1:3964,7:451.62,0.04:246.95,0.00:204.68,0.04:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.8,81.0:0,0:0,0:81,45:64,105:28,0:NM_001001331.2(ATP2B2) c.603C>G (p.(=)),NM_001001331.2(ATP2B2) c.603C>G (p.(=)):0.14,0.14:0.186837,0.186837 3 10444033 . C . . NT END=10452300;NT GT ./. 3 10452500 . C . . NT END=10491027;NT GT ./. 3 10458756 rs11713330 G C 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5735,C/0.4265;PC=0.002;Gene=ATP2B2/NM_001001331.2/1;CC=c.200-6257C>G;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.200-6257C>G;VC=Intron;DM=ATP2B2/E1-E2_ATPase;DM=ATP2B2/Cation_ATPase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:3:C,G,T:6:6:0:0:4,1,1:113,11,9:12.04,0.00,0.56:11.10,0.00,0.56:0.95,0.00,0.00:0.93,0.00,0.00:0.93,0.00,0.00:0.78,0.00,0.00:60,60,60:46.2,63.0,82.0:0,0,0:0,0,0:33,131,93:114,20,57:8,0,0:NM_001001331.2(ATP2B2) c.200-6257C>G,-:0.18,-:NOT_FOUND,- 3 10491230 . T . . NT END=10857950;NT GT ./. 3 10528014 rs369874467 T TGC 13 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=381;PC=0.018;Gene=ATP2B2/NM_001001331.2/1;CC=c.-320+19134_-320+19135insGC;VC=Intron;Gene=ATP2B2/NM_001683.3/0;CC=c.-320+19134_-320+19135insGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TGC:5:5:4:0:1,4:33,117:0.00,12.52:0.00,7.40:0.00,5.12:0.00,0.96:0.00,0.96:0.00,1.00:60,70:0.0,24.5:0,0:0,0:5,49:146,59:0,23:-,NM_001001331.2(ATP2B2) c.-320+19134_-320+19135insGC:-,NOT_FOUND:-,NOT_FOUND 3 10858207 . G . . NT END=10861149;NT GT ./. 3 10861285 . G . . NT END=10861396;NT GT ./. 3 10861538 . G . . NT END=10864986;NT GT ./. 3 10865078 . G . . NT END=10885898;NT GT ./. 3 10885787 rs2304724 G A 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.8069,A/0.1931;PC=0.001;Gene=SLC6A11/NM_014229.1/1;CC=c.624-112G>A;VC=Intron;DM=SLC6A11/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:41:39:0:0:24,16,1:816,468,13:81.37,0.00,0.20:68.97,0.00,0.23:12.40,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.2,5.3,48.0:0,0,0:0,0,0:54,40,120:97,109,31:33,27,0:NM_014229.1(SLC6A11) c.624-112G>A,-:0.18,-:NOT_FOUND,- 3 10885920 rs2304725 T C 186 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.6258,C/0.3742;Gene=SLC6A11/NM_014229.1/1;CC=c.645T>C;ProtCh=p.S215=;VC=Silent;DM=SLC6A11/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:105:80:0:0:60,45:1890,1490:186.48,0.00:92.22,0.00:94.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.3,8.8:0,0:0,0:83,74:64,67:29,34:NM_014229.1(SLC6A11) c.645T>C (p.(=)),-:0.34,-:0.327695,- 3 10886032 . G . . NT END=10916645;NT GT ./. 3 10916781 . G . . NT END=10953774;NT GT ./. 3 10953549 rs2581206 A C 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.606,C/0.394;PC=0.001;Gene=SLC6A11/NM_014229.1/1;CC=c.892-226A>C;VC=Intron;DM=SLC6A11/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:187:21.56:21.56:0.00:1.00:1.00:0.00:60:71.0:0:0:51:99:36:NM_014229.1(SLC6A11) c.892-226A>C,NM_014229.1(SLC6A11) c.892-226A>C:0.41,0.41:NOT_FOUND,NOT_FOUND 3 10953879 . G . . NT END=10960013;NT GT ./. 3 10960139 . G . . NT END=10967689;NT GT ./. 3 10967803 . G . . NT END=10970887;NT GT ./. 3 10971026 . G . . NT END=10974836;NT GT ./. 3 10974940 . G . . NT END=10975751;NT GT ./. 3 10975745 rs2272399 C T 44 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.6492,T/0.3508;Gene=SLC6A11/NM_014229.1/1;CC=c.1475-7C>T;VC=Intron;DM=SLC6A11/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:36:0:0:28,14:834,490:0.00,44.11:0.00,29.98:0.00,14.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,42.1:0,0:0,0:44,49:98,99:26,20:-,NM_014229.1(SLC6A11) c.1475-7C>T:-,0.34:-,0.294326 3 10975853 . G . . NT END=10976714;NT GT ./. 3 10976886 . G . . NT END=10979935;NT GT ./. 3 10980089 . G . . NT END=11058897;NT GT ./. 3 11059136 . G . . NT END=11059528;NT GT ./. 3 11059661 . G . . NT END=11060283;NT GT ./. 3 11059847 rs2928078 G A 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.4315,A/0.5685;Gene=SLC6A1/NM_003042.3/1;CC=c.370+187G>A;VC=Intron;Gene=SLC6A1-AS1/NR_046647.1/0;VC=NonCoding;DM=SLC6A1/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:0:0:0:17:497:57.77:0.00:57.77:1.00:0.00:1.00:60:32.8:0:0:85:65:28:NM_003042.3(SLC6A1) c.370+187G>A,NM_003042.3(SLC6A1) c.370+187G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 3 11059996 rs1728803 A G 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5252,G/0.4748;Gene=SLC6A1/NM_003042.3/1;CC=c.371-288A>G;VC=Intron;Gene=SLC6A1-AS1/NR_046647.1/0;VC=NonCoding;DM=SLC6A1/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,C,G:7:2:0:0:2,1,4:65,24,129:0.00,1.90,13.10:0.00,0.00,6.47:0.00,1.90,6.63:0.00,0.00,0.90:0.00,0.00,0.85:0.00,0.00,0.98:60,60,60:49.5,75.0,54.5:0,0,0:0,0,0:130,54,26:21,97,113:12,0,6:-,NM_003042.3(SLC6A1) c.371-288A>G:-,0.47:-,NOT_FOUND 3 11060385 . G . . NT END=11061898;NT GT ./. 3 11060622 rs2933307 C G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4281,G/0.5719;PC=0.001;Gene=SLC6A1/NM_003042.3/1;CC=c.471+238C>G;VC=Intron;Gene=SLC6A1-AS1/NR_046647.1/0;VC=NonCoding;DM=SLC6A1/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:123:14.21:0.00:14.21:1.00:0.00:1.00:60:48.2:0:0:101:49:22:NM_003042.3(SLC6A1) c.471+238C>G,NM_003042.3(SLC6A1) c.471+238C>G:0.6,0.6:NOT_FOUND,NOT_FOUND 3 11062009 . G . . NT END=11064021;NT GT ./. 3 11064155 . G . . NT END=11067134;NT GT ./. 3 11067270 . G . . NT END=11067458;NT GT ./. 3 11067563 . G . . NT END=11067920;NT GT ./. 3 11068046 . G . . NT END=11070420;NT GT ./. 3 11070534 . G . . NT END=11070906;NT GT ./. 3 11071039 . G . . NT END=11072862;NT GT ./. 3 11072966 . G . . NT END=11075324;NT GT ./. 3 11075426 . G . . NT END=11076216;NT GT ./. 3 11075503 rs2246543 T C 27 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.3017,C/0.6983;Gene=SLC6A1/NM_003042.3/1;CC=c.1527+78T>C;VC=Intron;DM=SLC6A1/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:0:0:0:8,7:278,214:27.12,0.00:0.00,0.00:27.12,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.9,4.9:0,0:0,0:119,106:30,43:22,9:NM_003042.3(SLC6A1) c.1527+78T>C,-:0.68,-:NOT_FOUND,- 3 11076385 . G . . NT END=11078547;NT GT ./. 3 11078653 . G . . NT END=11300723;NT GT ./. 3 11222634 . TACACAC T 11 rn VT=DEL;SST=Single;DP=4;PC=0.001;Gene=HRH1/NM_001098213.1/0;CC=c.-36+43596_-36+43601delACACAC;VC=Intron;Gene=HRH1/NM_001098212.1/0;CC=c.-36+26441_-36+26446delACACAC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T:4:3:0:4:4:91:10.70:5.90:4.80:1.00:1.00:1.00:60:8.8:0:0:62:83:27:NM_001098213.1(HRH1) c.-36+43550_-36+43555delACACAC,NM_001098213.1(HRH1) c.-36+43550_-36+43555delACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 11276399 rs347614 T C 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.3588,C/0.6412;Gene=HRH1/NM_001098213.1/0;CC=c.-35-24290T>C;VC=Intron;Gene=HRH1/NM_001098212.1/0;CC=c.-35-24290T>C;VC=Intron;Gene=HRH1/NM_001098211.1/0;CC=c.-36+8654T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:5:0:0:12,10:381,342:37.24,0.00:7.01,0.00:30.23,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:43.1,26.6:0,0:0,0:84,112:66,38:34,26:NM_001098213.1(HRH1) c.-35-24290T>C,-:0.67,-:NOT_FOUND,- 3 11300707 rs901865 T C 337 nt VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.1769,C/0.8231;PC=0.001;Gene=HRH1/NM_001098213.1/0;CC=c.-17T>C;VC=5UTR;Gene=HRH1/NM_001098212.1/0;CC=c.-17T>C;VC=5UTR;Gene=HRH1/NM_001098211.1/0;CC=c.-17T>C;VC=5UTR;Gene=HRH1/NM_000861.3/1;CC=c.-17T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:91:80:0:0:90,1:2967,34:337.10,0.00:257.89,0.00:79.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,0.0:0,0:0,0:45,19:99,132:27,0:NM_001098213.1(HRH1) c.-17T>C,NM_001098213.1(HRH1) c.-17T>C:0.82,0.82:0.778333,0.778333 3 11302188 . G . . NT END=11340169;NT GT ./. 3 11339960 rs2594994 T A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.08127,A/0.9187;Gene=ATG7/NM_001136031.2/0;CC=c.-10-200T>A;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.-10-200T>A;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.-10-200T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:249:28.71:28.71:0.00:1.00:1.00:0.00:60:58.8:0:0:29:121:22:NM_006395.2(ATG7) c.-10-200T>A,NM_006395.2(ATG7) c.-10-200T>A:0.91,0.91:NOT_FOUND,NOT_FOUND 3 11340330 . G . . NT END=11340835;NT GT ./. 3 11340891 . G . . NT END=11348416;NT GT ./. 3 11348535 . G . . NT END=11350457;NT GT ./. 3 11350536 . G . . NT END=11354777;NT GT ./. 3 11350553 rs2305686 C T 52 nt VT=SNV;PN=T;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.7316,T/0.2684;Gene=ATG7/NM_001136031.2/0;CC=c.411+18C>T;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.411+18C>T;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.411+18C>T;VC=Intron;DM=ATG7/ATG7_N;DM=ATG7/ATG7_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:20:0:0:22,17:701,556:0.00,52.11:0.00,8.12:0.00,43.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,37.4:0,0:0,0:105,96:39,55:29,26:-,NM_006395.2(ATG7) c.411+18C>T:-,0.23:-,0.163386 3 11354895 . G . . NT END=11356817;NT GT ./. 3 11356968 . G . . NT END=11372813;NT GT ./. 3 11372903 . G . . NT END=11374445;NT GT ./. 3 11374568 . G . . NT END=11382118;NT GT ./. 3 11381973 rs3816380 A C 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7282,C/0.2718;Gene=ATG7/NM_001136031.2/0;CC=c.890-146A>C;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.773-146A>C;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.890-146A>C;VC=Intron;DM=ATG7/ATG7_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C:5:4:0:0:2,3:69,101:0.00,10.07:0.00,10.47:0.00,-0.40:0.00,0.78:0.00,0.97:0.00,0.73:60,60:34.0,33.7:0,0:0,0:122,55:29,96:2,31:-,NM_006395.2(ATG7) c.890-146A>C:-,0.24:-,NOT_FOUND 3 11382210 . G . . NT END=11383608;NT GT ./. 3 11383347 rs2594978 C A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.08287,A/0.9171;Gene=ATG7/NM_001136031.2/0;CC=c.981-262C>A;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.864-262C>A;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.981-262C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:158:18.56:18.56:0.00:1.00:1.00:0.00:60:33.2:0:0:15:135:14:NM_006395.2(ATG7) c.981-262C>A,NM_006395.2(ATG7) c.981-262C>A:0.91,0.91:NOT_FOUND,NOT_FOUND 3 11383754 . G . . NT END=11389350;NT GT ./. 3 11389510 . G . . NT END=11399891;NT GT ./. 3 11389781 rs7646384 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7522,A/0.2478;PC=0.002;Gene=ATG7/NM_001136031.2/0;CC=c.1284+272G>A;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.1167+272G>A;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.1284+272G>A;VC=Intron;DM=ATG7/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:0:0:0:3,1:75,33:7.91,0.00:0.00,0.00:7.91,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:29.3,12.0:0,0:0,0:108,146:43,4:2,0:NM_006395.2(ATG7) c.1284+272G>A,-:0.22,-:NOT_FOUND,- 3 11400087 . G . . NT END=11402054;NT GT ./. 3 11400249 rs2606736 C T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.4812,T/0.5188;PC=0.001;Gene=ATG7/NM_001136031.2/0;CC=c.1479+163C>T;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.1362+163C>T;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.1479+163C>T;VC=Intron;DM=ATG7/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,T:14:0:0:0:9,5:257,150:0.00,13.43:0.00,0.00:0.00,13.43:0.00,0.90:0.00,0.00:0.00,0.90:60,60:4.7,66.0:0,0:0,0:110,108:41,12:26,30:-,NM_006395.2(ATG7) c.1479+163C>T:-,0.56:-,NOT_FOUND 3 11402259 . G . . NT END=11404286;NT GT ./. 3 11404403 . G . . NT END=11406132;NT GT ./. 3 11406209 . G . . NT END=11421445;NT GT ./. 3 11408445 rs58790022 C CTG 16 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;NP=8;Gene=ATG7/NM_001136031.2/0;CC=c.1875+2280_1875+2281insGT;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.1758+2280_1758+2281insGT;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.1875+2280_1875+2281insGT;VC=Intron;DM=ATG7/ThiF;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,CTG:8:7:5:0:3,5:97,160:0.00,16.09:0.00,9.60:0.00,6.48:0.00,0.97:0.00,1.00:0.00,0.98:60,60:13.7,18.0:0,0:0,0:82,44:44,106:10,11:-,NM_006395.2(ATG7) c.1875+2237_1875+2238insTG:-,NOT_FOUND:-,NOT_FOUND 3 11421527 . G . . NT END=11468277;NT GT ./. 3 11468401 . G . . NT END=11518607;NT GT ./. 3 11518788 . G . . NT END=11596284;NT GT ./. 3 11529799 rs71624909 T C 172 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=257;PC=0.008;Gene=ATG7/NM_001136031.2/0;CC=c.1998+61399T>C;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.1840-66486T>C;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.2079+61399T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:44:0:0:46:1502:172.04:151.32:20.72:1.00:1.00:1.00:60:55.9:0:0:39:112:29:NM_006395.2(ATG7) c.2079+61399T>C,NM_006395.2(ATG7) c.2079+61399T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 11529841 rs62245922 C T 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=107;PC=0.362;Gene=ATG7/NM_001136031.2/0;CC=c.1998+61441C>T;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.1840-66444C>T;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.2079+61441C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:70:0:0:40,36:1254,1168:0.00,111.13:0.00,91.85:0.00,19.28:0.00,1.00:0.00,1.00:0.00,1.00:60,50:29.9,56.9:0,0:0,0:44,43:100,98:16,25:-,NM_006395.2(ATG7) c.2079+61441C>T:-,NOT_FOUND:-,NOT_FOUND 3 11530170 rs58541712 A G 93 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.0003994,G/0.9996;NP=23;PC=0.041;Gene=ATG7/NM_001136031.2/0;CC=c.1998+61770A>G;VC=Intron;Gene=ATG7/NM_001144912.1/0;CC=c.1840-66115A>G;VC=Intron;Gene=ATG7/NM_006395.2/1;CC=c.2079+61770A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G:26:0:0:0:26:803:92.67:0.00:92.67:1.00:0.00:1.00:60:39.0:0:0:118:32:22:NM_006395.2(ATG7) c.2079+61770A>G,NM_006395.2(ATG7) c.2079+61770A>G:1,1:NOT_FOUND,NOT_FOUND 3 11596302 rs8154 T C 94 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.7454,C/0.2546;PC=0.059;Gene=ATG7/NM_001136031.2/0;CC=c.2016T>C;ProtCh=p.D672=;VC=Silent;Gene=ATG7/NM_001144912.1/0;CC=c.1857T>C;ProtCh=p.D619=;VC=Silent;Gene=ATG7/NM_006395.2/1;CC=c.2097T>C;ProtCh=p.D699=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:49:0:0:31,34:988,1075:93.98,0.00:46.19,0.00:47.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.3,31.4:0,0:0,0:68,79:81,68:29,24:NM_006395.2(ATG7) c.2097T>C (p.(=)),-:0.25,-:0.32239,- 3 11596318 . G . . NT END=11600029;NT GT ./. 3 11596348 rs14016 C T 85 nt VT=SNV;PN=C;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.7181,T/0.2819;Gene=ATG7/NM_001136031.2/0;CC=c.*31C>T;VC=3UTR;Gene=ATG7/NM_001144912.1/0;CC=c.*31C>T;VC=3UTR;Gene=ATG7/NM_006395.2/1;CC=c.*31C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:58:35:0:0:1,30,27:13,876,887:0.07,0.00,84.57:-0.08,0.00,37.76:0.15,0.00,46.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:132.0,49.1,35.3:0,0,0:0,0,0:30,102,110:121,46,35:0,30,18:-,NM_006395.2(ATG7) c.*31C>T:-,0.26:-,0.155697 3 11596402 rs1046593 C T 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.8504,T/0.1496;Gene=ATG7/NM_001136031.2/0;CC=c.*85C>T;VC=3UTR;Gene=ATG7/NM_001144912.1/0;CC=c.*85C>T;VC=3UTR;Gene=ATG7/NM_006395.2/1;CC=c.*85C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:9:0:0:17,17:540,526:0.00,50.41:0.00,12.32:0.00,38.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.2,61.0:0,0:0,0:77,106:74,43:42,22:-,NM_006395.2(ATG7) c.*85C>T:-,0.14:-,0.201489 3 11599940 . A C 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;PC=0.054;Gene=VGLL4/NM_001128221.2/0;CC=c.*90T>G;VC=3UTR;Gene=VGLL4/NM_001128220.2/0;CC=c.*90T>G;VC=3UTR;Gene=VGLL4/NM_001284391.1/0;CC=c.*90T>G;VC=3UTR;Gene=VGLL4/NM_001128219.2/0;CC=c.*90T>G;VC=3UTR;Gene=VGLL4/NM_001284390.1/1;CC=c.*90T>G;VC=3UTR;Gene=VGLL4/NM_014667.3/0;CC=c.*90T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,C:35:31:0:0:24,11:529,162:0.00,11.94:0.00,11.32:0.00,0.62:0.00,1.00:0.00,1.00:0.00,0.88:60,60:59.3,77.5:0,0:0,0:36,96:101,23:33,43:-,NM_001128219.1(VGLL4) c.*90T>G:-,NOT_FOUND:-,NOT_FOUND 3 11599946 . A C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;Gene=VGLL4/NM_001128221.2/0;CC=c.*84T>G;VC=3UTR;Gene=VGLL4/NM_001128220.2/0;CC=c.*84T>G;VC=3UTR;Gene=VGLL4/NM_001284391.1/0;CC=c.*84T>G;VC=3UTR;Gene=VGLL4/NM_001128219.2/0;CC=c.*84T>G;VC=3UTR;Gene=VGLL4/NM_001284390.1/1;CC=c.*84T>G;VC=3UTR;Gene=VGLL4/NM_014667.3/0;CC=c.*84T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,C,G:40:35:0:0:33,6,1:826,113,13:0.00,6.97,0.02:0.00,7.43,-0.29:0.00,-0.46,0.31:0.00,0.88,0.00:0.00,0.98,0.00:0.00,0.74,0.00:60,60,60:40.5,107.3,114.0:3,0,0:0,0,0:18,77,4:117,68,147:18,24,0:-,NM_001128219.1(VGLL4) c.*84T>G:-,NOT_FOUND:-,NOT_FOUND 3 11600302 . C . . NT END=11600805;NT GT ./. 3 11600563 rs7617620 C T 69 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2528,T/0.7472;Gene=VGLL4/NM_001128221.2/0;CC=c.349+243G>A;VC=Intron;Gene=VGLL4/NM_001128220.2/0;CC=c.361+243G>A;VC=Intron;Gene=VGLL4/NM_001284391.1/0;CC=c.424+243G>A;VC=Intron;Gene=VGLL4/NM_001128219.2/0;CC=c.619+243G>A;VC=Intron;Gene=VGLL4/NM_001284390.1/1;CC=c.616+243G>A;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.601+243G>A;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:12:0:0:19:596:68.63:46.92:21.71:1.00:1.00:1.00:60:42.3:0:0:52:99:44:NM_001128219.1(VGLL4) c.619+243G>A,NM_001128219.1(VGLL4) c.619+243G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 3 11600930 . C . . NT END=11606270;NT GT ./. 3 11606494 . C . . NT END=11610078;NT GT ./. 3 11610399 . T . . NT END=11623759;NT GT ./. 3 11623837 . G . . NT END=11643306;NT GT ./. 3 11624211 rs892932 C A 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1366,A/0.8634;PC=0.002;Gene=VGLL4/NM_001284391.1/0;CC=c.78-17718G>T;VC=Intron;Gene=VGLL4/NM_001128219.2/0;CC=c.273-17718G>T;VC=Intron;Gene=VGLL4/NM_001284390.1/1;CC=c.270-17718G>T;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.255-17718G>T;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:219:25.21:0.00:25.21:1.00:0.00:1.00:60:34.0:0:0:112:37:32:NM_001128219.1(VGLL4) c.273-17718G>T,NM_001128219.1(VGLL4) c.273-17718G>T:0.89,0.89:NOT_FOUND,NOT_FOUND 3 11643465 rs2276749 T C 542 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=144;DB;DBA=NA;PAF=T/0.07049,A/.,C/0.9295;PC=1.000;Gene=VGLL4/NM_001284391.1/0;CC=c.-82A>G;VC=5UTR;Gene=VGLL4/NM_001128219.2/0;CC=c.114A>G;ProtCh=p.I38M;VC=Missense;Gene=VGLL4/NM_001284390.1/1;CC=c.111A>G;ProtCh=p.I37M;VC=Missense;Gene=VGLL4/NM_014667.3/0;CC=c.96A>G;ProtCh=p.I32M;VC=Missense;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:144:76:0:0:143,1:4770,33:542.30,0.00:180.71,0.00:361.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,0.0:1,0:0,0:85,96:56,55:36,0:NM_001128219.1(VGLL4) c.114A>G (p.Ile38Met),NM_001128219.1(VGLL4) c.114A>G (p.Ile38Met):0.95,0.95:0.964324,0.964324 3 11643497 . C . . NT END=11645797;NT GT ./. 3 11645715 rs6786146 C T 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1126,T/0.8874;Gene=VGLL4/NM_001284391.1/0;CC=c.-114+83G>A;VC=Intron;Gene=VGLL4/NM_001128219.2/0;CC=c.83-2219G>A;VC=Intron;Gene=VGLL4/NM_001284390.1/1;CC=c.80-2219G>A;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.65-2219G>A;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:315:36.25:36.25:0.00:1.00:1.00:0.00:60:64.1:0:0:109:41:19:NM_001128219.1(VGLL4) c.83-2219G>A,NM_001128219.1(VGLL4) c.83-2219G>A:0.89,0.89:NOT_FOUND,NOT_FOUND 3 11645992 rs7643462 T C 122 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.1202,C/0.8798;Gene=VGLL4/NM_001284391.1/0;CC=c.-308A>G;VC=5UTR;Gene=VGLL4/NM_001128219.2/0;CC=c.83-2496A>G;VC=Intron;Gene=VGLL4/NM_001284390.1/1;CC=c.80-2496A>G;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.65-2496A>G;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:16:0:0:32:1063:121.56:44.57:76.99:1.00:1.00:1.00:60:71.6:0:0:87:64:31:NM_001128219.1(VGLL4) c.83-2496A>G,NM_001128219.1(VGLL4) c.83-2496A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 11646010 rs7631831 G T 105 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.1202,T/0.8798;Gene=VGLL4/NM_001284391.1/0;CC=c.-326C>A;VC=5UTR;Gene=VGLL4/NM_001128219.2/0;CC=c.83-2514C>A;VC=Intron;Gene=VGLL4/NM_001284390.1/1;CC=c.80-2514C>A;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.65-2514C>A;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:14:0:0:29:917:105.48:39.56:65.93:1.00:1.00:1.00:60:74.2:0:0:104:47:25:NM_001128219.1(VGLL4) c.83-2514C>A,NM_001128219.1(VGLL4) c.83-2514C>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 11646056 . A . . NT END=11684910;NT GT ./. 3 11668704 rs9822430 A T 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7446,T/0.2554;Gene=VGLL4/NM_001128219.2/0;CC=c.82+16207T>A;VC=Intron;Gene=VGLL4/NM_001284390.1/1;CC=c.80-25208T>A;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.65-25208T>A;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,T:5:3:0:0:2,3:61,96:0.00,9.57:0.00,6.51:0.00,3.06:0.00,0.78:0.00,0.94:0.00,0.94:60,60:0.0,42.0:0,1:0,0:95,80:56,70:17,26:-,NM_001128219.1(VGLL4) c.82+16207T>A:-,0.24:-,NOT_FOUND 3 11684682 rs2290307 C T 11 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8572,T/0.1428;PC=0.350;Gene=VGLL4/NM_001128219.2/0;CC=c.82+229G>A;VC=Intron;Gene=VGLL4/NM_001284390.1/1;CC=c.79+28054G>A;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.65-41186G>A;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:C,T:17:17:0:0:13,4:371,133:0.00,11.19:0.00,11.25:0.00,-0.06:0.00,0.74:0.00,0.74:0.00,0.49:60,60:22.3,47.2:0,0:0,0:56,41:95,110:24,9:-,NM_001128219.1(VGLL4) c.82+229G>A:-,0.12:-,NOT_FOUND 3 11685143 . TA T 59 idl,rn VT=DEL;SST=Single;DP=152;NP=1;PC=0.002;Gene=VGLL4/NM_001128219.2/0;CC=c.-152delT;VC=5UTR;Gene=VGLL4/NM_001284390.1/1;CC=c.79+27592delT;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.65-41648delT;VC=Intron;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;DM=VGLL4/VGLL4;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,TA,I,T:149:104:8:28:1,1,114,8,25:9,10,3406,252,856:-0.29,-0.27,0.00,16.14,59.38:-0.20,-0.20,0.00,4.63,37.43:-0.09,-0.08,0.00,11.50,21.95:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,1.00:20,60,60,60,60:122.0,131.0,12.8,24.0,15.4:0,0,0,0,3:0,0,0,0,0:126,114,75,76,64:1,37,72,74,86:0,0,42,27,43:-,NM_001128219.1(VGLL4) c.-164T[12]:-,NOT_FOUND:-,NOT_FOUND 3 11685399 . G . . NT END=11712735;NT GT ./. 3 11712776 . g . . NT END=11744444;NT GT ./. 3 11744219 rs61290616 C A 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=VGLL4/NM_001284390.1/1;CC=c.-55+226G>T;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.64+226G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,C,D:11:11:0:2:3,6,2:80,172,66:6.91,0.00,5.55:6.91,0.00,5.55:0.00,0.00,0.00:0.60,0.00,0.00:0.60,0.00,0.00:0.00,0.00,0.00:60,60,60:84.0,24.0,0.0:1,0,0:0,0,0:74,61,57:77,88,93:2,40,39:NM_014667.2(VGLL4) c.64+226G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 11744509 . T . . NT END=11831978;NT GT ./. 3 11744544 rs7627336 G GA 67 rn VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.3159,GA/0.6841;DB;DBA=NA;PAF=NA;NP=2438;Gene=VGLL4/NM_001284390.1/1;CC=c.-131-24dupT;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.-13-24dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:53:34:23:0:30,23:970,716:0.00,66.83:0.00,32.85:0.00,33.98:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.9,28.7:0,0:0,0:95,102:54,47:25,17:-,NM_014667.2(VGLL4) c.-13-24_-13-23insT:-,0.69:-,0.730978 3 11744584 rs6781438 C T 49 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.6248,T/0.3752;PC=0.002;Gene=VGLL4/NM_001284390.1/1;CC=c.-131-63G>A;VC=Intron;Gene=VGLL4/NM_014667.3/0;CC=c.-13-63G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:14:0:0:22,17:697,528:0.00,49.31:0.00,15.22:0.00,34.10:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.6,40.1:0,0:0,0:116,122:35,19:20,19:-,NM_014667.2(VGLL4) c.-13-63G>A:-,0.39:-,NOT_FOUND 3 11832056 . C . . NT END=11848625;NT GT ./. 3 11849370 . C . . NT END=11849808;NT GT ./. 3 11850058 . c . . NT END=11850990;NT GT ./. 3 11851157 . C . . NT END=11858665;NT GT ./. 3 11858812 . C . . NT END=11871187;NT GT ./. 3 11871339 . C . . NT END=11874476;NT GT ./. 3 11874626 . C . . NT END=11880695;NT GT ./. 3 11880789 . C . . NT END=11885502;NT GT ./. 3 11880816 rs303862 C A 82 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4541,A/0.5459,T/.;Gene=TAMM41/NM_001284401.1/1;CC=c.319-28G>T;VC=Intron;Gene=TAMM41/NM_138807.3/0;CC=c.319-28G>T;VC=Intron;Gene=TAMM41/NR_104314.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:15:0:0:21:724:82.42:37.18:45.24:1.00:1.00:1.00:60:45.9:0:0:107:44:20:NM_138807.2(TAMM41) c.319-28G>T,NM_138807.2(TAMM41) c.319-28G>T:0.57,0.57:0.556282,0.556282 3 11885686 . C . . NT END=11887975;NT GT ./. 3 11885815 rs303854 T C 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6172,C/0.3828;Gene=TAMM41/NM_001284401.1/1;CC=c.136-130A>G;VC=Intron;Gene=TAMM41/NM_138807.3/0;CC=c.136-130A>G;VC=Intron;Gene=TAMM41/NR_104314.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:0:0:0:10,14:283,459:25.95,0.00:0.00,0.00:25.95,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.3,9.1:0,0:0,0:93,123:57,26:10,20:NM_138807.2(TAMM41) c.136-130A>G,-:0.37,-:NOT_FOUND,- 3 11887991 rs408600 C G 151 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.5657,G/0.4343;PC=0.995;Gene=TAMM41/NM_001284401.1/1;CC=c.120G>C;ProtCh=p.P40=;VC=Silent;Gene=TAMM41/NM_138807.3/0;CC=c.120G>C;ProtCh=p.P40=;VC=Silent;Gene=TAMM41/NR_104314.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:95:81:0:0:47,47,1:1560,1573,11:0.00,151.38,-0.09:0.00,89.21,-0.02:0.00,62.17,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.4,38.4,19.0:0,0,0:0,0,0:73,56,58:75,81,92:33,32,0:-,NM_138807.2(TAMM41) c.120G>C (p.(=)):-,0.41:-,0.477011 3 11888111 . G . . NT END=11912357;NT GT ./. 3 11888259 rs420599 C G 62 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.5669,G/0.4331;Gene=TAMM41/NM_001284401.1/1;CC=c.-149G>C;VC=5UTR;Gene=TAMM41/NM_138807.3/0;CC=c.-149G>C;VC=5UTR;Gene=TAMM41/NR_104314.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:33:2:0:0:14,19:436,627:0.00,62.00:0.00,3.74:0.00,58.26:0.00,1.00:0.00,0.85:0.00,1.00:60,60:13.9,37.0:0,0:0,0:108,91:42,56:14,9:-,NM_138807.2(TAMM41) c.-149G>C:-,0.4:-,NOT_FOUND 3 11912364 . G . . NT END=11912770;NT GT ./. 3 11912555 rs481464 C A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=589;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:52:96.0:0:0:41:109:18:chr3 g.11912554C>A (intergenic),chr3 g.11912554C>A (intergenic):1,1:NOT_FOUND,NOT_FOUND 3 11912557 rs6772602 G A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3409,A/0.6591;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:52:96.0:0:0:43:107:18:chr3 g.11912556G>A (intergenic),chr3 g.11912556G>A (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 3 11912635 rs6772434 C T 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7722,T/0.2278;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:C,T:19:19:0:0:4,15:136,499:0.00,52.81:0.00,52.81:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:58.2,50.8:0,0:0,0:54,59:96,92:39,23:-,chr3 g.11912634C>T (intergenic):-,0.21:-,NOT_FOUND 3 11912762 rs113897327 C T 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:30:0:0:30,13:932,443:0.00,39.08:0.00,25.05:0.00,14.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.6,62.3:0,0:0,0:52,83:98,68:25,33:-,chr3 g.11912761C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 11912797 rs445387 C T 174 lc VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.3978,T/0.6022;PC=0.754 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:30:0:0:47:1516:173.95:83.39:90.56:1.00:1.00:1.00:45:44.0:0:0:79:72:28:chr3 g.11912796C>T (intergenic),chr3 g.11912796C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 11912903 . G . . NT END=11915116;NT GT ./. 3 11913124 rs51579 A G 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2734,G/0.7266,T/.;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:106:12.49:0.00:12.49:1.00:0.00:1.00:60:48.8:0:0:95:55:11:chr3 g.11913123A>G (intergenic),chr3 g.11913123A>G (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 3 11915154 rs3732701 A G 65 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8522,G/0.1478;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A,G:19:11:0:0:1,18:11,583:0.00,65.29:0.00,22.70:0.00,42.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:102.0,42.4:0,0:0,0:69,59:82,90:0,21:chr3 g.11915153A>G (intergenic),chr3 g.11915153A>G (intergenic):0.17,0.17:NOT_FOUND,NOT_FOUND 3 11915228 . G . . NT END=11922350;NT GT ./. 3 11922209 rs150930210 A AAAAC 28 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8225,AAAAC/0.1775,AAAACAAAC/.;NP=1;NP=105;PC=0.028;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:A,AAAAC:9:9:8:0:1,8:35,258:0.00,28.25:0.00,28.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,3.4:0,0:0,0:143,41:7,109:0,28:-,chr3 g.11922209_11922210insAAAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 11922461 . G . . NT END=11923061;NT GT ./. 3 11922557 rs3732700 T C 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7696,C/0.2304;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:170:19.81:0.00:19.81:1.00:0.00:1.00:60:53.5:0:0:108:42:18:chr3 g.11922556T>C (intergenic),chr3 g.11922556T>C (intergenic):0.23,0.23:NOT_FOUND,NOT_FOUND 3 11923123 . G . . NT END=11924488;NT GT ./. 3 11924609 . G . . NT END=11925052;NT GT ./. 3 11924613 rs5846732 AG A 132 nt VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=724;PC=0.925;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:AG,A:52:8:0:48:4,48:107,1159:0.00,132.05:0.00,28.33:0.00,103.72:0.00,1.00:0.00,1.00:0.00,1.00:40,62:3.8,11.9:0,0:0,0:149,100:2,47:0,26:chr3 g.11924614delG (intergenic),chr3 g.11924614delG (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 3 11925127 . G . . NT END=11925425;NT GT ./. 3 11925136 rs423051 T A,G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=2127;NP=32;PC=0.173 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,G:4:0:0:0:1,3:10,99:0.88,10.96:0.00,0.00:0.88,10.96:0.00,0.85:0.00,0.00:0.00,0.85:39,40:67.0,33.0:0,0:0,0:25,137:124,14:0,7:chr3 g.11925135T>A (intergenic),chr3 g.11925135T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 11925226 rs3852022 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8636,A/0.1364 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:129:14.81:10.83:3.98:1.00:1.00:1.00:40:81.0:0:0:50:101:32:chr3 g.11925225G>A (intergenic),chr3 g.11925225G>A (intergenic):0.18,0.18:NOT_FOUND,NOT_FOUND 3 11925254 rs2454146 T C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2698,C/0.7302;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:133:15.65:11.13:4.52:1.00:1.00:1.00:40:78.2:0:0:63:88:35:chr3 g.11925253T>C (intergenic),chr3 g.11925253T>C (intergenic):0.7,0.7:NOT_FOUND,NOT_FOUND 3 11925365 rs3927162 T A 137 nt VT=SNV;PN=G;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6903,A/0.3097;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:34:0:0:37:1193:136.88:114.29:22.59:1.00:1.00:1.00:60:84.5:0:0:34:110:22:chr3 g.11925364T>A (intergenic),chr3 g.11925364T>A (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 3 11925383 rs3864016 A G 160 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.6905,G/0.3095 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:G:46:43:0:0:46:1382:159.79:134.44:25.35:1.00:1.00:1.00:60:80.5:0:0:44:106:28:chr3 g.11925382A>G (intergenic),chr3 g.11925382A>G (intergenic):0.3,0.3:NOT_FOUND,NOT_FOUND 3 11925489 rs2470561 C T 175 lc VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.5218,T/0.4782;NP=2447;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C,T:50:37:0:0:1,49:35,1541:0.00,175.22:0.00,114.72:0.00,60.49:0.00,1.00:0.00,1.00:0.00,1.00:53,54:10.0,75.8:0,0:0,0:90,101:61,50:0,30:chr3 g.11925488C>T (intergenic),chr3 g.11925488C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 11925545 rs28682978 T C 130 lc VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.723,C/0.277;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C,T:43:19:0:0:40,3:1156,75:129.84,0.00:53.54,0.00:76.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:54,53:70.1,30.7:0,0:0,0:62,59:87,30:41,12:chr3 g.11925544T>C (intergenic),chr3 g.11925544T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 11925573 . G . . NT END=11926416;NT GT ./. 3 11925610 rs421090 C T 129 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.531,T/0.469;PC=0.158 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:T:36:11:0:0:36:1121:129.09:31.75:97.34:1.00:1.00:1.00:58:59.9:0:0:82:67:25:chr3 g.11925609C>T (intergenic),chr3 g.11925609C>T (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 3 11926062 rs11713194 G C 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6903,C/0.3097;PC=0.165 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:122:14.10:9.74:4.36:1.00:1.00:1.00:60:69.2:0:0:39:101:19:chr3 g.11926061G>C (intergenic),chr3 g.11926061G>C (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 3 11926243 rs11713207 C G 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6899,G/0.3101;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:200:22.86:22.86:0.00:1.00:1.00:0.00:60:70.2:0:0:44:104:25:chr3 g.11926242C>G (intergenic),chr3 g.11926242C>G (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 3 11926269 rs11713259 G A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6899,A/0.3101;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:185:21.36:21.36:0.00:1.00:1.00:0.00:60:69.8:0:0:55:82:19:chr3 g.11926268G>A (intergenic),chr3 g.11926268G>A (intergenic):0.27,0.27:NOT_FOUND,NOT_FOUND 3 11926334 rs57378411 GTGTATGTGGAGTAATATCTCCCTA G 14 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=GTGTATGTGGAGTAATATCTCCCTA/0.6905,G/0.3095;NP=390;PC=0.028;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:GTGTATGTGGAGTAATATCTCCCTA,G:8:8:0:5:3,5:90,143:0.00,14.39:0.00,11.41:0.00,2.97:0.00,0.97:0.00,0.97:0.00,0.88:60,66:72.0,62.0:0,0:0,0:131,27:17,107:9,23:-,chr3 g.11926335_11926358delTGTATGTGGAGTAATATCTCCCTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 11926423 rs2055283 A G 58 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4207,G/0.5793;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C,G:16:10:0:0:1,15:10,517:0.42,58.44:0.00,30.99:0.42,27.44:0.00,1.00:0.00,1.00:0.00,1.00:20,66:148.0,90.5:0,0:0,0:61,44:89,100:0,19:chr3 g.11926422A>G (intergenic),chr3 g.11926422A>G (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 3 11926467 rs2055282 A G 72 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.6625,G/0.3375;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:9:0:0:19:633:72.32:25.75:46.57:1.00:1.00:1.00:66:90.1:0:0:78:72:27:chr3 g.11926466A>G (intergenic),chr3 g.11926466A>G (intergenic):0.31,0.31:NOT_FOUND,NOT_FOUND 3 11926508 rs391434 A G 57 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.2608,G/0.7392;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:G:17:7:0:0:17:495:57.49:16.17:41.32:1.00:1.00:1.00:56:87.2:0:0:105:39:31:chr3 g.11926507A>G (intergenic),chr3 g.11926507A>G (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 3 11926518 . G . . NT END=11926886;NT GT ./. 3 11926604 rs433987 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2442,G/0.7558 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:209:23.76:4.08:19.68:1.00:1.00:1.00:54:60.2:0:0:56:91:22:chr3 g.11926603A>G (intergenic),chr3 g.11926603A>G (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 3 11927003 . G . . NT END=11928246;NT GT ./. 3 11928233 rs57585378 A AT 13 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2793;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,AT:5:4:4:0:1,4:19,118:0.00,12.63:0.00,13.32:0.00,-0.69:0.00,0.96:0.00,1.00:0.00,0.87:60,60:63.0,75.2:1,0:0,0:18,63:132,87:0,13:-,chr3 g.11928233_11928234insT (intergenic):-,0.99:-,NOT_FOUND 3 11928282 rs55818640 G T 27 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6907,T/0.3093;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:5:0:0:7:235:26.84:15.41:11.43:1.00:1.00:1.00:60:72.1:0:0:68:82:39:chr3 g.11928281G>T (intergenic),chr3 g.11928281G>T (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 3 11928312 rs17028975 G A 25 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6907,A/0.3093;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:5:0:0:7:221:25.44:14.96:10.48:1.00:1.00:1.00:60:72.0:0:0:98:52:39:chr3 g.11928311G>A (intergenic),chr3 g.11928311G>A (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 3 11928365 . G . . NT END=11932561;NT GT ./. 3 11932455 rs9869051 T G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6879,G/0.3121;PC=0.208 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:43.2:0:0:69:79:33:chr3 g.11932454T>G (intergenic),chr3 g.11932454T>G (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 3 11932677 . G . . NT END=11941489;NT GT ./. 3 11933184 rs2470576 G T 54 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=2631;PC=0.091 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:472:53.88:0.00:53.88:1.00:0.00:1.00:60:71.6:0:0:62:88:31:chr3 g.11933183G>T (intergenic),chr3 g.11933183G>T (intergenic):1,1:NOT_FOUND,NOT_FOUND 3 11933223 rs9874113 T C 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6899,C/0.3101;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:355:40.27:0.00:40.27:1.00:0.00:1.00:60:84.1:0:0:90:59:11:chr3 g.11933222T>C (intergenic),chr3 g.11933222T>C (intergenic):0.29,0.29:NOT_FOUND,NOT_FOUND 3 11933247 rs545715935 TG T 22 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=147;PC=0.006;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:TG,T:9:0:0:8:1,8:32,199:0.00,22.04:0.00,0.00:0.00,22.04:0.00,1.00:0.00,0.00:0.00,1.00:56,40:101.0,82.1:0,0:0,0:147,112:4,38:0,8:-,chr3 g.11933248delG (intergenic):-,0.96:-,NOT_FOUND 3 11933255 rs11293974 TG T 23 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=74;PC=0.007;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:T:8:0:0:8:8:196:23.09:0.00:23.09:1.00:0.00:1.00:40:82.1:0:0:119:31:8:chr3 g.11933256delG (intergenic),chr3 g.11933256delG (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 3 11941627 . G . . NT END=11942585;NT GT ./. 3 11941802 rs2454151 G A 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.241,A/0.759;PC=0.943 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:196:22.46:0.00:22.46:1.00:0.00:1.00:60:49.7:0:0:64:86:25:chr3 g.11941801G>A (intergenic),chr3 g.11941801G>A (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 3 11942718 . G . . NT END=11942827;NT GT ./. 3 11943082 . G . . NT END=12187192;NT GT ./. 3 12098787 rs377485566 C CTGTCTGTGTG 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=4;PC=0.001;Gene=SYN2/NM_003178.5/0;CC=c.374+52362_374+52363insCTGTGTGTGT;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.374+52362_374+52363insCTGTGTGTGT;VC=Intron;DM=SYN2/Synapsin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CTGTCTGTGTG:3:3:4:0:3:135:11.26:7.50:3.75:0.85:0.99:0.99:70:11.0:1:0:118:32:8:chr3 g.12098787_12098788insTGTCTGTGTG (intergenic),chr3 g.12098787_12098788insTGTCTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 12098825 rs900138 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3794,G/0.6206;PC=0.001;Gene=SYN2/NM_003178.5/0;CC=c.374+52397A>G;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.374+52397A>G;VC=Intron;DM=SYN2/Synapsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:2:0:0:6:201:22.96:3.68:19.28:1.00:1.00:1.00:60:40.3:0:0:52:82:22:chr3 g.12098824A>G (intergenic),chr3 g.12098824A>G (intergenic):0.63,0.63:NOT_FOUND,NOT_FOUND 3 12111922 rs521335 G C 33 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.003994,C/0.996;PC=0.995;Gene=SYN2/NM_003178.5/0;CC=c.374+65494G>C;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.374+65494G>C;VC=Intron;DM=SYN2/Synapsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C,T:11:11:0:0:10,1:289,12:33.22,0.70:31.30,0.70:1.92,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:84.3,96.0:0,0:0,0:46,112:104,39:34,0:chr3 g.12111921G>C (intergenic),chr3 g.12111921G>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 3 12111961 rs521223 G A 67 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2817,A/0.7183,T/.;PC=1.000;Gene=SYN2/NM_003178.5/0;CC=c.374+65533G>A;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.374+65533G>A;VC=Intron;DM=SYN2/Synapsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:20:0:0:20:575:66.89:62.91:3.98:1.00:1.00:1.00:60:94.5:0:0:26:123:19:chr3 g.12111960G>A (intergenic),chr3 g.12111960G>A (intergenic):0.71,0.71:NOT_FOUND,NOT_FOUND 3 12112010 rs598747 G A 113 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.1787,A/0.8213;PC=1.000;Gene=SYN2/NM_003178.5/0;CC=c.374+65582G>A;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.374+65582G>A;VC=Intron;DM=SYN2/Synapsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:A:32:30:0:0:32:980:113.16:96.37:16.79:1.00:1.00:1.00:60:86.9:0:0:55:96:33:chr3 g.12112009G>A (intergenic),chr3 g.12112009G>A (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 3 12112053 rs598704 G A 165 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.3888,A/0.6112;PC=0.439;Gene=SYN2/NM_003178.5/0;CC=c.374+65625G>A;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.374+65625G>A;VC=Intron;DM=SYN2/Synapsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:37:0:0:42:1450:165.03:110.44:54.59:1.00:1.00:1.00:60:58.4:0:0:37:113:20:chr3 g.12112052G>A (intergenic),chr3 g.12112052G>A (intergenic):0.62,0.62:NOT_FOUND,NOT_FOUND 3 12187336 . G . . NT END=12192736;NT GT ./. 3 12192525 rs182545 G C 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.376,C/0.624;PC=0.001;Gene=SYN2/NM_003178.5/0;CC=c.682-212G>C;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.682-212G>C;VC=Intron;DM=SYN2/Synapsin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:262:30.41:30.41:0.00:1.00:1.00:0.00:60:46.6:0:0:16:134:13:NM_133625.3(SYN2) c.685-212G>C,NM_133625.3(SYN2) c.685-212G>C:0.64,0.64:NOT_FOUND,NOT_FOUND 3 12192827 . G . . NT END=12195014;NT GT ./. 3 12195213 . C . . NT END=12195826;NT GT ./. 3 12195622 rs308952 A G 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1845,G/0.8155;Gene=SYN2/NM_003178.5/0;CC=c.771+2796A>G;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.771+2796A>G;VC=Intron;Gene=TIMP4/NM_003256.3/1;CC=c.477+205T>C;VC=Intron;DM=SYN2/Synapsin_C;DM=TIMP4/TIMP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:12:0:0:14:387:45.32:39.68:5.64:1.00:1.00:1.00:60:34.6:0:0:58:92:33:NM_003256.3(TIMP4) c.477+205T>C,NM_003256.3(TIMP4) c.477+205T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 3 12195952 . C . . NT END=12198319;NT GT ./. 3 12198435 . C . . NT END=12198884;NT GT ./. 3 12198983 . C . . NT END=12200201;NT GT ./. 3 12200341 . G . . NT END=12203045;NT GT ./. 3 12202866 rs308950 C G 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.1867,G/0.8133;Gene=SYN2/NM_003178.5/0;CC=c.772-180C>G;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.772-180C>G;VC=Intron;DM=SYN2/Synapsin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:16:0:0:16:546:62.23:62.23:0.00:1.00:1.00:0.00:60:41.8:0:0:56:94:33:NM_133625.3(SYN2) c.775-180C>G,NM_133625.3(SYN2) c.775-180C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 12203109 . G . . NT END=12203511;NT GT ./. 3 12203655 . G . . NT END=12208733;NT GT ./. 3 12208652 rs795008 A G 174 nt VT=SNV;PN=A;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.003994,G/0.996;NP=2779;Gene=SYN2/NM_003178.5/0;CC=c.978-82A>G;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.978-82A>G;VC=Intron;DM=SYN2/Synapsin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:G:46:44:0:0:46:1520:173.86:151.64:22.22:1.00:1.00:1.00:60:71.4:0:0:20:130:16:NM_133625.3(SYN2) c.981-82A>G,NM_133625.3(SYN2) c.981-82A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 12208671 rs795009 G T 197 nt VT=SNV;PN=T;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.2796,T/0.7204;PC=0.001;Gene=SYN2/NM_003178.5/0;CC=c.978-63G>T;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.978-63G>T;VC=Intron;DM=SYN2/Synapsin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G,T:55:52:0:0:1,54:8,1725:0.00,196.66:0.00,155.45:0.00,41.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,63.9:0,0:0,0:8,34:141,116:0,20:NM_133625.3(SYN2) c.981-63G>T,NM_133625.3(SYN2) c.981-63G>T:0.71,0.71:0.707184,0.707184 3 12208809 . G . . NT END=12209875;NT GT ./. 3 12208995 rs795010 T A 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2782,A/0.7218;PC=0.862;Gene=SYN2/NM_003178.5/0;CC=c.1052+187T>A;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.1052+187T>A;VC=Intron;DM=SYN2/Synapsin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:1:0:0:14:449:51.57:3.38:48.20:1.00:1.00:1.00:60:44.8:0:0:104:46:29:NM_133625.3(SYN2) c.1055+187T>A,NM_133625.3(SYN2) c.1055+187T>A:0.72,0.72:NOT_FOUND,NOT_FOUND 3 12209979 . G . . NT END=12211256;NT GT ./. 3 12211046 rs795011 G T 62 nt VT=SNV;PN=A;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3826,T/0.6174;PC=0.001;Gene=SYN2/NM_003178.5/0;CC=c.1156-211G>T;VC=Intron;Gene=SYN2/NM_133625.4/1;CC=c.1156-211G>T;VC=Intron;DM=SYN2/Synapsin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:539:61.95:61.95:0.00:1.00:1.00:0.00:60:42.9:0:0:73:78:38:NM_133625.3(SYN2) c.1159-211G>T,NM_133625.3(SYN2) c.1159-211G>T:0.63,0.63:NOT_FOUND,NOT_FOUND 3 12211407 . G . . NT END=12224811;NT GT ./. 3 12226789 rs78512510 G A 203 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=G/0.9856,A/0.01438;PC=0.998;Gene=SYN2/NM_003178.5/0;CC=c.*1849G>A;VC=3UTR;Gene=SYN2/NM_133625.4/1;CC=c.1366+1917G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:146:110:0:0:70,75,1:2132,2410,8:202.91,0.00,-0.19:111.72,0.00,-0.10:91.19,0.00,-0.08:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.5,9.8,25.0:0,0,0:0,0,0:65,69,111:81,82,40:41,33,0:NM_133625.3(SYN2) c.1369+1917G>A,-:0.01,-:NOT_FOUND,- 3 12227227 . T . . NT END=12228868;NT GT ./. 3 12229015 rs794999 A G 654 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=180;DB;DBA=NA;PAF=A/0.3111,G/0.6889;PC=1.000;Gene=SYN2/NM_133625.4/1;CC=c.1513A>G;ProtCh=p.T505A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:180:115:0:0:1,179:10,5694:0.06,653.93:0.06,298.08:0.00,355.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:30.0,39.6:0,0:0,0:144,51:7,97:0,37:NM_133625.3(SYN2) c.1516A>G (p.Thr506Ala),NM_133625.3(SYN2) c.1516A>G (p.Thr506Ala):0.7,0.7:0.706228,0.706228 3 12229113 . G . . NT END=12231989;NT GT ./. 3 12229237 rs398051583 TG T 113 sb,nt VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=TG/0.3778,T/0.6222;DB;DBA=NA;PAF=TG/0.3778,T/0.6222;NP=622;Gene=SYN2/NM_133625.4/1;CC=c.1610+127delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:TG,T:38:1:0:33:5,33:149,1033:0.00,112.61:0.00,1.91:0.00,110.70:0.00,1.00:0.00,0.91:0.00,1.00:60,60:23.6,11.3:0,0:0,0:148,91:3,59:1,23:-,NM_133625.3(SYN2) c.1613+126delG:-,NOT_FOUND:-,NOT_FOUND 3 12229268 rs67086774 TTG T 70 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=TTG/0.274,T/0.6649;DB;DBA=NA;PAF=TTG/0.274,T/0.6649;DB;DBA=NA;PAF=TTG/0.274,T/0.6649;NP=170;Gene=SYN2/NM_133625.4/1;CC=c.1610+178_1610+179delGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTG,T:31:1:0:22:9,22:257,678:0.00,70.21:0.00,1.81:0.00,68.40:0.00,1.00:0.00,0.81:0.00,1.00:60,60:8.6,12.4:0,0:0,0:141,97:9,53:7,19:-,NM_133625.3(SYN2) c.1613+157_1613+158delTG:-,NOT_FOUND:-,NOT_FOUND 3 12232074 rs310764 A G 475 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=139;DB;DBA=NA;PAF=A/0.03894,C/.,G/0.9611,T/.;PC=0.094;Gene=SYN2/NM_133625.4/1;CC=c.1695A>G;ProtCh=p.A565=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:139:114:0:0:138,1:4109,12:475.29,0.12:299.29,0.00:176.00,0.12:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,22.0:0,0:0,0:53,32:91,118:28,0:NM_133625.3(SYN2) c.1698A>G (p.(=)),NM_133625.3(SYN2) c.1698A>G (p.(=)):0.95,0.95:0.925264,0.925264 3 12232208 rs310765 T G 738 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=194;DB;DBA=NA;PAF=T/0.03814,G/0.9619;Gene=SYN2/NM_133625.4/1;CC=c.*83T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:194:134:0:0:193,1:6476,9:737.84,0.00:397.53,0.00:340.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,75.0:0,0:0,0:76,16:74,134:31,0:NM_133625.3(SYN2) c.*83T>G,NM_133625.3(SYN2) c.*83T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 12232667 . G . . NT END=12393091;NT GT ./. 3 12252899 rs5846757 TTG T 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=524;PC=0.009;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:TTG,T:4:4:0:3:1,3:29,81:0.00,8.53:0.00,6.66:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,31.0:0,0:0,0:134,60:17,91:0,8:-,chr3 g.12252900_12252901delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 12369401 rs13064760 C T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9321,T/0.06789;PC=0.008;Gene=PPARG/NM_005037.5/0;CC=c.-3+39882C>T;VC=Intron;Gene=PPARG/NM_138712.3/1;CC=c.-3+15449C>T;VC=Intron;Gene=PPARG/NM_138711.3/0;CC=c.-3+15449C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:5:5:0:0:1,4:35,108:0.00,11.62:0.00,11.62:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,84.0:0,0:0,0:52,53:99,97:0,25:-,NM_138712.3(PPARG) c.-3+15449C>T:-,0.06:-,NOT_FOUND 3 12393125 rs1801282 C G 43 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=in-clinvar;PAF=C/0.9297,G/0.07029;PC=1.000;Gene=PPARG/NM_005037.5/0;CC=c.-2-28078C>G;VC=Intron;Gene=PPARG/NM_138712.3/1;CC=c.-2-28078C>G;VC=Intron;Gene=PPARG/NM_138711.3/0;CC=c.-2-28078C>G;VC=Intron;Gene=PPARG/NM_015869.4/0;CC=c.34C>G;ProtCh=p.P12A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:26:21:0:0:12,14:356,441:0.00,42.89:0.00,24.01:0.00,18.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,32.1:0,0:0,0:81,71:63,63:30,36:-,NM_138712.3(PPARG) c.-2-28078C>G:-,0.07:-,0.090574 3 12393174 . G . . NT END=12421202;NT GT ./. 3 12421431 . G . . NT END=12422820;NT GT ./. 3 12422991 . G . . NT END=12434112;NT GT ./. 3 12434252 . G . . NT END=12447380;NT GT ./. 3 12447581 . G . . NT END=12458202;NT GT ./. 3 12447814 rs1797895 C G 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.871;Gene=PPARG/NM_005037.5/0;CC=c.735+234C>G;VC=Intron;Gene=PPARG/NM_138712.3/1;CC=c.735+234C>G;VC=Intron;Gene=PPARG/NM_138711.3/0;CC=c.735+234C>G;VC=Intron;Gene=PPARG/NM_015869.4/0;CC=c.819+234C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:174:19.78:0.00:19.78:1.00:0.00:1.00:60:39.4:0:0:80:71:32:NM_138712.3(PPARG) c.735+234C>G,NM_138712.3(PPARG) c.735+234C>G:1,1:NOT_FOUND,NOT_FOUND 3 12457916 rs113808589 G GACTC 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7558,GACTC/0.2442;NP=227;Gene=PPARG/NM_005037.5/0;CC=c.736-286_736-283dupACTC;VC=Intron;Gene=PPARG/NM_138712.3/1;CC=c.736-286_736-283dupACTC;VC=Intron;Gene=PPARG/NM_138711.3/0;CC=c.736-286_736-283dupACTC;VC=Intron;Gene=PPARG/NM_015869.4/0;CC=c.820-286_820-283dupACTC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:G,GACTC:4:4:2:0:2,2:70,68:0.00,6.55:0.00,6.55:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,0.0:0,0:0,0:39,43:108,105:1,24:-,NM_138712.3(PPARG) c.736-287_736-286insACTC:-,0.3:-,NOT_FOUND 3 12458654 . G . . NT END=12475396;NT GT ./. 3 12475162 rs7650895 A C 17 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8572,C/0.1428;Gene=PPARG/NM_005037.5/0;CC=c.1187-235A>C;VC=Intron;Gene=PPARG/NM_138712.3/1;CC=c.1187-235A>C;VC=Intron;Gene=PPARG/NM_138711.3/0;CC=c.1187-235A>C;VC=Intron;Gene=PPARG/NM_015869.4/0;CC=c.1271-235A>C;VC=Intron;DM=PPARG/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:A,C:13:13:0:0:7,6:179,177:0.00,16.71:0.00,16.71:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:33.3,55.3:0,0:0,0:54,20:97,130:32,6:-,NM_138712.3(PPARG) c.1187-235A>C:-,0.15:-,NOT_FOUND 3 12475557 rs3856806 C T 195 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=127;DB;DBA=in-clinvar;PAF=C/0.8734,T/0.1266;PC=0.206;Gene=PPARG/NM_005037.5/0;CC=c.1347C>T;ProtCh=p.H449=;VC=Silent;Gene=PPARG/NM_138712.3/1;CC=c.1347C>T;ProtCh=p.H449=;VC=Silent;Gene=PPARG/NM_138711.3/0;CC=c.1347C>T;ProtCh=p.H449=;VC=Silent;Gene=PPARG/NM_015869.4/0;CC=c.1431C>T;ProtCh=p.H477=;VC=Silent;DM=PPARG/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:127:73:0:0:64,63:1985,2035:0.00,195.42:0.00,83.73:0.00,111.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,37.9:0,0:0,0:106,71:39,72:27,35:-,NM_138712.3(PPARG) c.1347C>T (p.(=)):-,0.12:-,0.106643 3 12475645 . C . . NT END=12531299;NT GT ./. 3 12531489 . G . . NT END=12533634;NT GT ./. 3 12533717 . G . . NT END=12538016;NT GT ./. 3 12538054 . G . . NT END=12544760;NT GT ./. 3 12545284 . G . . NT END=12546652;NT GT ./. 3 12546731 . G . . NT END=12548206;NT GT ./. 3 12548077 rs537179433 CA C 12 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=CA/0.9022,C/0.09784;NP=4;PC=0.009;Gene=TSEN2/NM_001145393.1/0;CC=c.831+2811delA;VC=Intron;Gene=TSEN2/NM_001145394.1/1;CC=c.732+1364delA;VC=Intron;Gene=TSEN2/NM_001145395.1/0;CC=c.831+2811delA;VC=Intron;Gene=TSEN2/NM_001145392.1/0;CC=c.909+1364delA;VC=Intron;Gene=TSEN2/NM_025265.3/0;CC=c.909+1364delA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CA,I,C:25:25:2:6:18,2,5:505,67,185:0.00,4.81,12.35:0.00,4.84,12.44:0.00,-0.03,-0.09:0.00,0.00,0.82:0.00,0.00,0.98:0.00,0.00,0.46:60,60,70:41.4,0.0,4.0:0,0,1:0,0,0:38,91,22:98,59,129:20,1,22:-,NM_001145394.1(TSEN2) c.732+1348delA:-,NOT_FOUND:-,NOT_FOUND 3 12548335 . G . . NT END=12558109;NT GT ./. 3 12557945 rs72007282 ATGTG A 67 sb;idl,rn VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=ATGTG/0.3828,A/0.6172;DB;DBA=NA;PAF=ATGTG/0.3828,A/0.6172;NP=47;PC=0.001;Gene=TSEN2/NM_001145393.1/0;CC=c.832-126_832-123delTGTG;VC=Intron;Gene=TSEN2/NM_001145394.1/1;CC=c.733-126_733-123delTGTG;VC=Intron;Gene=TSEN2/NM_001145395.1/0;CC=c.832-126_832-123delTGTG;VC=Intron;Gene=TSEN2/NM_001145392.1/0;CC=c.910-126_910-123delTGTG;VC=Intron;Gene=TSEN2/NM_025265.3/0;CC=c.910-126_910-123delTGTG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:ATGTG,A:24:26:0:24:4,20:62,754:0.00,67.19:0.00,66.49:0.00,0.70:0.00,1.00:0.00,1.00:0.00,1.00:60,70:50.5,34.2:0,4:0,0:116,31:31,112:13,16:-,NM_001145394.1(TSEN2) c.733-164_733-161delTGTG:-,NOT_FOUND:-,NOT_FOUND 3 12558161 . G . . NT END=12560557;NT GT ./. 3 12560697 . G . . NT END=12570386;NT GT ./. 3 12570424 . G . . NT END=12571260;NT GT ./. 3 12571420 . G GT 39 idl,rn VT=INS;SST=Single;DP=105;NP=7;Gene=TSEN2/NM_001145393.1/0;CC=c.1170+61dupT;VC=Intron;Gene=TSEN2/NM_001145394.1/1;CC=c.1071+61dupT;VC=Intron;Gene=TSEN2/NM_001145395.1/0;CC=c.*22dupT;VC=3UTR;Gene=TSEN2/NM_001145392.1/0;CC=c.1248+61dupT;VC=Intron;Gene=TSEN2/NM_025265.3/0;CC=c.1248+61dupT;VC=Intron;DM=TSEN2/tRNA_int_endo;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:100:68:20:5:79,1,16,4:2507,13,625,157:0.00,-0.15,38.51,7.51:0.00,-0.19,25.14,6.06:0.00,0.03,13.37,1.45:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:28.4,48.0,17.2,2.0:0,0,4,1:0,0,0,0:76,1,64,84:73,149,75,67:37,0,35,13:-,NM_001145394.1(TSEN2) c.1071+48_1071+49insT:-,NOT_FOUND:-,NOT_FOUND 3 12572282 . g . . NT END=12573068;NT GT ./. 3 12573159 . G . . NT END=12574160;NT GT ./. 3 12574221 . C . . NT END=12581691;NT GT ./. 3 12581933 . C . . NT END=12583358;NT GT ./. 3 12583522 . C . . NT END=12584678;NT GT ./. 3 12584729 . C . . NT END=12586745;NT GT ./. 3 12586964 . A . . NT END=12598649;NT GT ./. 3 12598676 . G . . NT END=12610373;NT GT ./. 3 12610503 . G . . NT END=12611569;NT GT ./. 3 12611752 . G . . NT END=12613567;NT GT ./. 3 12613873 . G . . NT END=12616290;NT GT ./. 3 12616506 . G . . NT END=12618129;NT GT ./. 3 12616533 rs3773341 G A 65 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.5028,A/0.4972;Gene=MKRN2/NM_001271707.1/0;CC=c.728+28G>A;VC=Intron;Gene=MKRN2/NM_014160.4/1;CC=c.857+28G>A;VC=Intron;DM=MKRN2/zf-C3HC4;DM=MKRN2/zf-C3HC4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:10:0:0:19,15:664,502:65.33,0.00:10.56,0.00:54.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,4.1:0,0:0,0:97,114:53,37:26,20:NM_014160.3(MKRN2) c.857+28G>A,-:0.43,-:0.369983,- 3 12618241 . G . . NT END=12623306;NT GT ./. 3 12623452 . G . . NT END=12623614;NT GT ./. 3 12623753 . A . . NT END=12626012;NT GT ./. 3 12626157 . C . . NT END=12626345;NT GT ./. 3 12626481 . C . . NT END=12626620;NT GT ./. 3 12626753 . C . . NT END=12626758;NT GT ./. 3 12626906 . C . . NT END=12627179;NT GT ./. 3 12627299 . C . . NT END=12629089;NT GT ./. 3 12629137 . C . . NT END=12632296;NT GT ./. 3 12632474 . C . . NT END=12633206;NT GT ./. 3 12633292 . C . . NT END=12641189;NT GT ./. 3 12641308 . C . . NT END=12641650;NT GT ./. 3 12641779 . C . . NT END=12641886;NT GT ./. 3 12641915 . C . . NT END=12645634;NT GT ./. 3 12645789 . C . . NT END=12647699;NT GT ./. 3 12647799 . C . . NT END=12650264;NT GT ./. 3 12650423 . C . . NT END=12650731;NT GT ./. 3 12650482 rs2454440 T A 126 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=3378;Gene=RAF1/NM_002880.3/1;CC=c.424-60A>T;VC=Intron;DM=RAF1/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:A:34:11:0:0:34:1098:125.97:27.34:98.63:1.00:1.00:1.00:60:38.7:0:0:85:64:20:NM_002880.3(RAF1) c.424-60A>T,NM_002880.3(RAF1) c.424-60A>T:1,1:NOT_FOUND,NOT_FOUND 3 12650835 . C . . NT END=12653448;NT GT ./. 3 12653562 . C . . NT END=12660013;NT GT ./. 3 12659889 . G GA 7 rn VT=INS;SST=Single;DP=21;PC=0.002;Gene=RAF1/NM_002880.3/1;CC=c.207+124dupT;VC=Intron;DM=RAF1/RBD;DM=RAF1/C1_1;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:G,GA:21:21:3:0:18,3:599,95:0.00,7.19:0.00,7.19:0.00,0.00:0.00,0.49:0.00,0.49:0.00,0.00:60,60:14.3,6.0:0,0:0,0:40,25:108,126:29,13:-,NM_002880.3(RAF1) c.207+124_207+125insT:-,NOT_FOUND:-,NOT_FOUND 3 12660221 . T . . NT END=12776272;NT GT ./. 3 12660291 rs3729926 C T 164 nt VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=C/0.08746,T/0.9125;PC=0.002;Gene=RAF1/NM_002880.3/1;CC=c.-26-45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:T:46:6:0:0:46:1424:164.27:14.96:149.31:1.00:1.00:1.00:60:41.0:0:0:101:48:27:NM_002880.3(RAF1) c.-26-45G>A,NM_002880.3(RAF1) c.-26-45G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 3 12776293 . C . . NT END=12777053;NT GT ./. 3 12776428 rs3732687 A C 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.6849,C/0.3151;Gene=TMEM40/NM_001284407.1/0;CC=c.593-136T>G;VC=Intron;Gene=TMEM40/NM_001284408.1/0;CC=c.455-136T>G;VC=Intron;Gene=TMEM40/NM_018306.3/0;CC=c.683-136T>G;VC=Intron;Gene=TMEM40/NM_001284406.1/1;CC=c.731-136T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:0:0:0:20:625:72.00:0.00:72.00:1.00:0.00:1.00:60:42.6:0:0:109:42:34:NM_018306.2(TMEM40) c.683-136T>G,NM_018306.2(TMEM40) c.683-136T>G:0.33,0.33:NOT_FOUND,NOT_FOUND 3 12777117 . C . . NT END=12778076;NT GT ./. 3 12777752 rs3732688 C A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7198,A/0.2802;Gene=TMEM40/NM_001284407.1/0;CC=c.529+325G>T;VC=Intron;Gene=TMEM40/NM_001284408.1/0;CC=c.391+325G>T;VC=Intron;Gene=TMEM40/NM_018306.3/0;CC=c.619+325G>T;VC=Intron;Gene=TMEM40/NM_001284406.1/1;CC=c.667+325G>T;VC=Intron;DM=TMEM40/TMEM40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:133:15.21:15.21:0.00:1.00:1.00:0.00:60:42.8:0:0:80:70:9:NM_018306.2(TMEM40) c.619+325G>T,NM_018306.2(TMEM40) c.619+325G>T:0.29,0.29:NOT_FOUND,NOT_FOUND 3 12778152 . C . . NT END=12778262;NT GT ./. 3 12778335 . C . . NT END=12779205;NT GT ./. 3 12779254 . C . . NT END=12779634;NT GT ./. 3 12779409 rs2271209 A G 98 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.2646,G/0.7354;Gene=TMEM40/NM_001284407.1/0;CC=c.335-156T>C;VC=Intron;Gene=TMEM40/NM_001284408.1/0;CC=c.197-156T>C;VC=Intron;Gene=TMEM40/NM_018306.3/0;CC=c.425-156T>C;VC=Intron;Gene=TMEM40/NM_001284406.1/1;CC=c.473-156T>C;VC=Intron;DM=TMEM40/TMEM40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:11:0:0:27:851:97.94:37.82:60.12:1.00:1.00:1.00:60:36.9:0:0:75:76:33:NM_018306.2(TMEM40) c.425-156T>C,NM_018306.2(TMEM40) c.425-156T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 3 12779668 . C . . NT END=12780051;NT GT ./. 3 12780088 . C . . NT END=12783952;NT GT ./. 3 12784007 . C . . NT END=12785398;NT GT ./. 3 12785489 . C . . NT END=12790153;NT GT ./. 3 12790292 . C . . NT END=12791258;NT GT ./. 3 12791172 rs937915 T C 73 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.4629,C/0.5371;PC=0.001;Gene=TMEM40/NM_001284407.1/0;CC=c.73+87A>G;VC=Intron;Gene=TMEM40/NM_001284408.1/0;CC=c.73+87A>G;VC=Intron;Gene=TMEM40/NM_018306.3/0;CC=c.73+87A>G;VC=Intron;Gene=TMEM40/NM_001284406.1/1;CC=c.121+87A>G;VC=Intron;DM=TMEM40/TMEM40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:C:19:18:0:0:19:637:72.76:67.34:5.42:1.00:1.00:1.00:60:36.0:0:0:55:96:50:NM_018306.2(TMEM40) c.73+87A>G,NM_018306.2(TMEM40) c.73+87A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 3 12791340 . C . . NT END=12838219;NT GT ./. 3 12828782 rs201115024 TTTATTATTATTATTATTA T 20 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=4;PC=0.002;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:TTTATTATTATTATTATTA,I,T:14:13:1:7:6,1,7:194,31,210:0.00,2.24,20.42:0.00,2.24,11.68:0.00,0.00,8.74:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.51:60,60,60:0.0,53.0,39.9:0,0,0:0,0,0:119,20,47:28,131,98:8,0,17:-,chr3 g.12828783_12828800delTTATTATTATTATTATTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 12828828 rs9822382 T G 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5072,G/0.4928;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:G,T:18:13:0:0:14,4:470,128:49.53,0.00:30.04,0.00:19.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,21.8:0,0:0,0:39,51:108,92:32,9:chr3 g.12828827T>G (intergenic),-:0.5,-:NOT_FOUND,- 3 12829036 rs9881832 C T 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.6342,T/0.3658 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:11:0:0:11,13:369,410:0.00,40.01:0.00,10.56:0.00,29.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,52.8:0,0:0,0:50,85:94,66:17,46:-,chr3 g.12829035C>T (intergenic):-,0.41:-,NOT_FOUND 3 12829095 rs6799179 A C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.4685,C/0.5315;PC=0.974 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:11:0:0:11,8:372,280:0.00,26.20:0.00,5.83:0.00,20.37:0.00,0.99:0.00,0.99:0.00,1.00:60,60:6.0,69.9:0,0:0,0:92,92:44,57:19,12:-,chr3 g.12829094A>C (intergenic):-,0.54:-,NOT_FOUND 3 12829156 rs1969154 A G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4683,G/0.5317;PC=0.028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:9:0:0:8,8:263,271:0.00,26.10:0.00,16.28:0.00,9.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,51.1:0,0:0,0:94,59:57,85:42,14:-,chr3 g.12829155A>G (intergenic):-,0.54:-,NOT_FOUND 3 12829315 rs1985428 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5082,A/0.4918 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:13:6:0:0:6,7:210,206:19.97,0.00:5.91,0.00:14.06,0.00:0.97,0.00:0.97,0.00:0.98,0.00:60,60:35.0,9.9:0,0:0,0:66,106:83,44:28,24:chr3 g.12829314G>A (intergenic),-:0.5,-:NOT_FOUND,- 3 12838179 rs371427654 A G 107 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.9968,G/0.003195;NP=7;PC=0.778;Gene=CAND2/NM_001162499.1/1;CC=c.-41A>G;VC=5UTR;Gene=CAND2/NM_012298.2/0;CC=c.-41A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:69:53:0:0:32,37:1027,1104:0.00,107.20:0.00,70.58:0.00,36.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,45.9:0,0:0,0:74,48:77,98:24,31:-,NM_001162499.1(CAND2) c.-41A>G:-,NOT_FOUND:-,0.006176 3 12838288 . G . . NT END=12844986;NT GT ./. 3 12838293 rs12631514 G C 88 nt VT=SNV;PN=A;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.5701,A/.,C/0.4299;PC=0.044;Gene=CAND2/NM_001162499.1/1;CC=c.68+6G>C;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.68+6G>C;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:80:36:0:0:32,48:963,1610:88.13,0.00:17.95,0.00:70.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,18.9:0,0:0,0:105,93:45,53:36,23:NM_001162499.1(CAND2) c.68+6G>C,-:0.46,-:0.540347,- 3 12845131 . G . . NT END=12848804;NT GT ./. 3 12845158 rs9835677 G A 141 nt VT=SNV;PN=A;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.6398,A/0.3602;Gene=CAND2/NM_001162499.1/1;CC=c.212+28G>A;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.212+28G>A;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:42:0:0:45,40:1452,1343:141.14,0.00:46.32,0.00:94.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,11.8:0,0:0,0:111,89:38,62:22,22:NM_001162499.1(CAND2) c.212+28G>A,-:0.41,-:0.52495,- 3 12848822 rs11718898 T C 139 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.4006,C/0.5994;PC=1.000;Gene=CAND2/NM_001162499.1/1;CC=c.230T>C;ProtCh=p.V77A;VC=Missense;Gene=CAND2/NM_012298.2/0;CC=c.213-2736T>C;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:94:77:0:0:44,1,49:1463,11,1445:139.36,-0.10,0.00:99.15,-0.01,0.00:40.21,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.2,41.0,6.8:0,0,0:0,0,0:67,110,55:80,41,92:34,0,31:NM_001162499.1(CAND2) c.230T>C (p.Val77Ala),-:0.61,-:0.740473,- 3 12848960 . G . . NT END=12849708;NT GT ./. 3 12849011 rs398051598 TA T 90 rn VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=TA/0.4046,T/0.5954;DB;DBA=NA;PAF=TA/0.4046,T/0.5954;NP=612;Gene=CAND2/NM_001162499.1/1;CC=c.367+59delA;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.213-2540delA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,T:77:28:0:32:1,44,32:10,1256,972:-0.12,0.00,90.05:-0.05,0.00,20.73:-0.07,0.00,69.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.0,16.6,10.2:0,0,0:0,0,0:49,117,107:101,34,40:0,25,23:-,NM_001162499.1(CAND2) c.367+53delA:-,NOT_FOUND:-,0.7352 3 12849031 rs59302336 C CA 66 rn VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6284,CA/0.3716;DB;DBA=NA;PAF=C/0.6284,CA/0.3716;NP=176;Gene=CAND2/NM_001162499.1/1;CC=c.367+82_367+83insA;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.213-2517_213-2516insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,CA,D:66:17:23:1:1,41,23,1:10,1313,735,25:-0.13,0.00,66.33,0.91:-0.04,0.00,7.19,-0.04:-0.08,0.00,59.14,0.96:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:10.0,12.9,11.9,11.0:0,0,0,0:0,0,0,0:29,114,99,67:121,37,51,84:0,30,13,0:-,NM_001162499.1(CAND2) c.367+72_367+73insA:-,NOT_FOUND:-,NOT_FOUND 3 12849833 . G . . NT END=12851557;NT GT ./. 3 12851824 . G . . NT END=12854488;NT GT ./. 3 12854595 . G . . NT END=12854744;NT GT ./. 3 12854888 . G . . NT END=12856639;NT GT ./. 3 12856856 rs2305398 A G 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=A/0.4235,G/0.5765;PC=0.994;Gene=CAND2/NM_001162499.1/1;CC=c.1223A>G;ProtCh=p.Q408R;VC=Missense;Gene=CAND2/NM_012298.2/0;CC=c.944A>G;ProtCh=p.Q315R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:124:79:0:0:74,1,49:2498,20,1563:0.00,0.27,143.76:0.00,-0.14,49.36:0.00,0.41,94.40:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.3,134.0,40.2:0,0,0:0,0,0:83,99,73:66,51,75:36,0,32:-,NM_001162499.1(CAND2) c.1223A>G (p.Gln408Arg):-,0.59:-,0.716464 3 12856933 . G . . NT END=12857365;NT GT ./. 3 12857493 rs2305397 C T 103 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.6771,T/0.3229;PC=1.000;Gene=CAND2/NM_001162499.1/1;CC=c.1427C>T;ProtCh=p.P476L;VC=Missense;Gene=CAND2/NM_012298.2/0;CC=c.1148C>T;ProtCh=p.P383L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:90:55:0:0:57,33:1874,1130:0.00,103.08:0.00,43.45:0.00,59.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,36.2:0,0:0,0:77,79:63,72:27,33:-,NM_001162499.1(CAND2) c.1427C>T (p.Pro476Leu):-,0.37:-,0.467117 3 12857508 . G . . NT END=12857872;NT GT ./. 3 12857823 rs731646 C T 110 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.615,T/0.385;Gene=CAND2/NM_001162499.1/1;CC=c.1442-50C>T;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.1163-50C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:55:0:0:26,33:824,1114:0.00,109.55:0.00,83.28:0.00,26.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,38.4:0,0:0,0:50,61:99,90:29,19:-,NM_001162499.1(CAND2) c.1442-50C>T:-,0.43:-,0.480918 3 12858028 rs3732675 T C 249 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=160;DB;DBA=NA;PAF=T/0.396,C/0.604,G/.;PC=1.000;Gene=CAND2/NM_001162499.1/1;CC=c.1597T>C;ProtCh=p.S533P;VC=Missense;Gene=CAND2/NM_012298.2/0;CC=c.1318T>C;ProtCh=p.S440P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:160:108:0:0:83,77:2579,2515:249.33,0.00:135.89,0.00:113.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,6.8:0,0:0,0:71,76:78,70:39,38:NM_001162499.1(CAND2) c.1597T>C (p.Ser533Pro),-:0.61,-:0.686853,- 3 12859004 rs3732678 A C 293 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=205;DB;DBA=NA;PAF=A/0.4277,C/0.5723,G/.,T/.;PC=0.991;Gene=CAND2/NM_001162499.1/1;CC=c.2573A>C;ProtCh=p.H858P;VC=Missense;Gene=CAND2/NM_012298.2/0;CC=c.2294A>C;ProtCh=p.H765P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:205:127:0:0:103,100,1,1:3222,3065,22,12:0.00,293.01,0.30,-0.14:0.00,112.85,0.41,-0.03:0.00,180.16,-0.11,-0.11:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:10.2,38.4,61.0,79.0:0,0,0,0:0,0,0,0:76,77,88,77:75,73,63,51:31,35,0,0:-,NM_001162499.1(CAND2) c.2573A>C (p.His858Pro):-,0.57:-,0.697676 3 12859376 . G . . NT END=12861584;NT GT ./. 3 12861681 . G . . NT END=12866968;NT GT ./. 3 12866725 rs7629133 C T 22 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3994,T/0.6006;Gene=CAND2/NM_001162499.1/1;CC=c.3041-244C>T;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.2762-316C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:G,T:8:8:0:0:1,7:16,187:1.19,21.58:1.19,21.58:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:88.0,70.6:0,0:0,0:9,56:140,95:0,20:NM_001162499.1(CAND2) c.3041-244C>T,NM_001162499.1(CAND2) c.3041-244C>T:0.61,0.61:NOT_FOUND,NOT_FOUND 3 12867139 . G . . NT END=12868938;NT GT ./. 3 12868857 rs111789140 G C 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9908,C/0.009185;PC=0.001;Gene=CAND2/NM_001162499.1/1;CC=c.3211-82G>C;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.2860-82G>C;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:37:37:0:0:19,18:624,609:60.30,0.00:50.02,0.00:10.28,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,9.7:0,0:0,0:24,22:126,116:9,16:NM_001162499.1(CAND2) c.3211-82G>C,-:0.01,-:NOT_FOUND,- 3 12869104 . G . . NT END=12872963;NT GT ./. 3 12872877 rs9814191 T G 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8065,G/0.1935;Gene=CAND2/NM_001162499.1/1;CC=c.3376-87T>G;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.3025-87T>G;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:25:25:0:0:10,15:298,446:27.23,0.00:25.66,0.00:1.57,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:77.8,20.8:0,0:0,0:54,49:94,102:37,29:NM_001162499.1(CAND2) c.3376-87T>G,-:0.16,-:NOT_FOUND,- 3 12872901 rs58996323 G A 33 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.881,A/0.119;PC=0.003;Gene=CAND2/NM_001162499.1/1;CC=c.3376-63G>A;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.3025-63G>A;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:28:0:0:11,18:362,537:33.11,0.00:32.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:71.6,19.6:0,0:0,0:49,70:102,81:27,39:NM_001162499.1(CAND2) c.3376-63G>A,-:0.1,-:NOT_FOUND,- 3 12873072 . G . . NT END=12875253;NT GT ./. 3 12873121 rs3832211 CCTCGGCCAGTCGTT C 31 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=CCTCGGCCAGTCGTT/0.881,C/0.119;DB;DBA=NA;PAF=CCTCGGCCAGTCGTT/0.881,C/0.119;NP=206;Gene=CAND2/NM_001162499.1/1;CC=c.3483+52_3483+65delTCGGCCAGTCGTTC;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.3132+52_3132+65delTCGGCCAGTCGTTC;VC=Intron;DM=CAND2/TIP120;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCTCGGCCAGTCGTT,C:28:6:0:11:17,11:484,335:0.00,30.64:0.00,3.04:0.00,27.60:0.00,1.00:0.00,0.94:0.00,1.00:60,60:21.6,21.3:0,0:0,0:109,101:33,49:28,17:-,NM_001162499.1(CAND2) c.3483+51_3483+64delCTCGGCCAGTCGTT:-,0.1:-,0.091859 3 12873245 rs78652507 G A 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9732,A/0.02676;Gene=CAND2/NM_001162499.1/1;CC=c.3483+174G>A;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.3132+174G>A;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:A,G:11:0:0:0:7,4:230,132:23.21,0.00:0.00,0.00:23.21,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:75.7,32.2:0,0:0,0:102,97:49,53:24,17:NM_001162499.1(CAND2) c.3483+174G>A,-:0.03,-:NOT_FOUND,- 3 12873265 rs3732680 A G 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2778,G/0.7222;PC=0.002;Gene=CAND2/NM_001162499.1/1;CC=c.3483+194A>G;VC=Intron;Gene=CAND2/NM_012298.2/0;CC=c.3132+194A>G;VC=Intron;DM=CAND2/TIP120 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:350:40.25:0.00:40.25:1.00:0.00:1.00:60:59.9:0:0:122:29:22:NM_001162499.1(CAND2) c.3483+194A>G,NM_001162499.1(CAND2) c.3483+194A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 3 12875482 . T . . NT END=12877592;NT GT ./. 3 12877723 . C . . NT END=12880847;NT GT ./. 3 12877830 rs56204642 G GT 45 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.8067,GT/0.1933;DB;DBA=NA;PAF=G/0.8067,GT/0.1933;NP=410;Gene=RPL32/NM_001007074.1/0;CC=c.279-109dupA;VC=Intron;Gene=RPL32/NM_000994.3/1;CC=c.279-109dupA;VC=Intron;Gene=RPL32/NM_001007073.1/0;CC=c.279-109dupA;VC=Intron;DM=RPL32/Ribosomal_L32e;DM=RPL32/Ribosomal_L32e;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:42:9:15:0:27,15:857,493:0.00,44.58:0.00,9.76:0.00,34.82:0.00,1.00:0.00,0.97:0.00,1.00:60,60:7.6,0.9:0,0:0,0:120,121:27,28:25,16:-,NM_001007074.1(RPL32) c.279-109_279-108insA:-,0.16:-,NOT_FOUND 3 12877991 rs11916815 C T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8065,T/0.1935;PC=0.529;Gene=RPL32/NM_001007074.1/0;CC=c.279-269G>A;VC=Intron;Gene=RPL32/NM_000994.3/1;CC=c.279-269G>A;VC=Intron;Gene=RPL32/NM_001007073.1/0;CC=c.279-269G>A;VC=Intron;DM=RPL32/Ribosomal_L32e;DM=RPL32/Ribosomal_L32e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:C,T:4:0:0:0:1,3:20,68:0.00,7.17:0.00,0.00:0.00,7.17:0.00,0.85:0.00,0.00:0.00,0.85:60,60:21.0,30.3:0,0:0,0:116,130:35,21:0,3:-,NM_001007074.1(RPL32) c.279-269G>A:-,0.16:-,NOT_FOUND 3 12880818 rs2290312 A C 119 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.8061,C/0.1939;Gene=RPL32/NM_001007074.1/0;CC=c.278+30T>G;VC=Intron;Gene=RPL32/NM_000994.3/1;CC=c.278+30T>G;VC=Intron;Gene=RPL32/NM_001007073.1/0;CC=c.278+30T>G;VC=Intron;DM=RPL32/Ribosomal_L32e;DM=RPL32/Ribosomal_L32e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:72:64:0:0:34,38:1066,1221:0.00,118.64:0.00,90.39:0.00,28.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,37.8:0,0:0,0:50,34:84,113:46,22:-,NM_001007074.1(RPL32) c.278+30T>G:-,0.16:-,0.190604 3 12881030 . C . . NT END=12881640;NT GT ./. 3 12881233 rs3901334 A G 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8065,G/0.1935;Gene=RPL32/NM_001007074.1/0;CC=c.97-204T>C;VC=Intron;Gene=RPL32/NM_000994.3/1;CC=c.97-204T>C;VC=Intron;Gene=RPL32/NM_001007073.1/0;CC=c.97-204T>C;VC=Intron;DM=RPL32/Ribosomal_L32e;DM=RPL32/Ribosomal_L32e;DM=RPL32/Ribosomal_L32e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:11:1:0:0:5,6:157,203:0.00,19.87:0.00,-0.34:0.00,20.21:0.00,0.98:0.00,0.70:0.00,1.00:60,60:37.8,50.2:0,0:0,0:72,106:78,44:18,22:-,NM_001007074.1(RPL32) c.97-204T>C:-,0.16:-,NOT_FOUND 3 12881585 rs3217618 A ACTGGCGGC 31 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.8099,ACTGGCGGC/0.1901;NP=1;PC=0.340;Gene=RPL32/NM_001007074.1/0;CC=c.96+55_96+56insGCCGCCAG;VC=Intron;Gene=RPL32/NM_000994.3/1;CC=c.96+55_96+56insGCCGCCAG;VC=Intron;Gene=RPL32/NM_001007073.1/0;CC=c.96+55_96+56insGCCGCCAG;VC=Intron;DM=RPL32/Ribosomal_L32e;DM=RPL32/Ribosomal_L32e;DM=RPL32/Ribosomal_L32e;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACTGGCGGC:23:22:10:0:13,10:380,333:0.00,31.25:0.00,26.40:0.00,4.85:0.00,1.00:0.00,1.00:0.00,0.94:60,60:9.5,1.3:0,0:0,0:69,59:82,92:44,29:-,NM_001007074.1(RPL32) c.96+55_96+56insGCCGCCAG:-,0.14:-,NOT_FOUND 3 12881737 . G . . NT END=12940888;NT GT ./. 3 12881757 rs7627602 C T 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.8067,A/.,T/0.1933;Gene=RPL32/NM_001007074.1/0;CC=c.-21G>A;VC=5UTR;Gene=RPL32/NM_000994.3/1;CC=c.-5-16G>A;VC=Intron;Gene=RPL32/NM_001007073.1/0;CC=c.-21G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:56:37:0:0:32,24:997,764:0.00,71.23:0.00,35.55:0.00,35.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,38.0:0,0:0,0:87,83:45,59:28,17:-,NM_001007074.1(RPL32) c.-21G>A:-,0.16:-,0.189605 3 12892035 rs377374930 GGGGAGA G 27 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=64;PC=0.069;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:GGGGAGA,G:13:13:0:9:4,9:131,266:0.00,27.40:0.00,27.40:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.8,8.8:0,0:0,0:11,65:140,86:9,21:-,chr3 g.12892036_12892041delGGGAGA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 12941950 . GTA G 20 rn VT=DEL;SST=Single;DP=56;PC=1.000;Gene=IQSEC1/NM_014869.6/1;CC=c.2848-1019_2848-1018delTA;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.*530_*531delTA;VC=3UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:GTA,T,I,G:56:40:1:8:46,1,1,8:1475,22,33,256:0.00,0.62,1.67,19.59:0.00,-0.22,1.82,10.04:0.00,0.83,-0.15,9.55:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.97:60,60,60,70:11.0,53.0,10.0,4.9:0,0,0,0:0,0,0,0:71,20,16,76:76,131,135,74:36,0,0,28:-,NM_001134382.2(IQSEC1) c.*516TA[7]:-,NOT_FOUND:-,NOT_FOUND 3 12942328 rs3773309 T C 404 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.876,C/0.124;PC=0.006;Gene=IQSEC1/NM_014869.6/1;CC=c.2848-1395A>G;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.*154A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:115:70:0:0:115:3497:403.97:186.79:217.18:1.00:1.00:1.00:60:40.2:0:0:79:65:36:NM_001134382.2(IQSEC1) c.*154A>G,NM_001134382.2(IQSEC1) c.*154A>G:0.11,0.11:NOT_FOUND,NOT_FOUND 3 12942850 rs56387830 GC G 248 PASS VT=DEL;SST=Single;DP=84;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=60;PC=0.042;Gene=IQSEC1/NM_014869.6/1;CC=c.2847+1422delG;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2976+1delG;VC=SpliceSiteCDS;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:GC,G:84:68:0:75:9,75:241,2243:0.00,247.75:0.00,169.28:0.00,78.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.2,17.3:6,0:0,0:91,71:60,72:55,39:-,NM_001134382.2(IQSEC1) c.=:-,0.99:-,0.998905 3 12943013 rs190809678 T G 101 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.9984,G/0.001597;NP=5;PC=1.000;Gene=IQSEC1/NM_014869.6/1;CC=c.2847+1260A>C;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2815A>C;ProtCh=p.I939L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:77:38:0:0:34,43:1079,1416:101.16,0.00:19.27,0.00:81.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,16.9:0,0:0,0:115,78:34,60:17,42:NM_001134382.2(IQSEC1) c.2815A>C (p.Ile939Leu),-:0.0014,-:NOT_FOUND,- 3 12943023 . C . . NT END=12944272;NT GT ./. 3 12943083 rs575751708 ATTTT A 36 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=24;PC=0.008;Gene=IQSEC1/NM_014869.6/1;CC=c.2847+1186_2847+1189delAAAA;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2806-65_2806-62delAAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTTT,A:33:14:0:14:20,13:662,428:0.00,36.29:0.00,9.95:0.00,26.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.1,65.2:0,1:0,0:101,101:43,50:23,16:-,NM_001134382.2(IQSEC1) c.2806-65_2806-62delAAAA:-,NOT_FOUND:-,NOT_FOUND 3 12943094 rs3773310 T C 110 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.8846,C/0.1154;Gene=IQSEC1/NM_014869.6/1;CC=c.2847+1179A>G;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2806-72A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C,I:32:12:2:0:30,2:969,59:110.31,4.44:24.77,0.99:85.55,3.46:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.1,1.0:13,0:0,0:110,136:40,14:20,6:NM_001134382.2(IQSEC1) c.2806-72A>G,NM_001134382.2(IQSEC1) c.2806-72A>G:0.1,0.1:NOT_FOUND,NOT_FOUND 3 12944158 rs63063761 CA C 20 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=33;PC=0.229;Gene=IQSEC1/NM_014869.6/1;CC=c.2847+114delT;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2805+114delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:CA,C:8:9:0:7:2,6:59,227:0.00,20.25:0.00,20.25:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:13.0,21.0:0,1:0,0:120,96:30,36:26,10:-,NM_001134382.2(IQSEC1) c.2805+114delT:-,0.51:-,NOT_FOUND 3 12944323 . C . . NT END=12949848;NT GT ./. 3 12950026 . C . . NT END=12950772;NT GT ./. 3 12950935 . C . . NT END=12953128;NT GT ./. 3 12953229 . C . . NT END=12954927;NT GT ./. 3 12954868 rs2600322 A G 209 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.2628,G/0.7372;Gene=IQSEC1/NM_014869.6/1;CC=c.2358+60T>C;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2316+60T>C;VC=Intron;DM=IQSEC1/IQ_SEC7_PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:G:59:54:0:0:59:1814:209.48:161.32:48.16:1.00:1.00:1.00:60:37.7:0:0:40:103:28:NM_001134382.2(IQSEC1) c.2316+60T>C,NM_001134382.2(IQSEC1) c.2316+60T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 3 12955054 . C . . NT END=12956603;NT GT ./. 3 12955156 rs2117011 C T 217 nt VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.8914,T/0.1086;Gene=IQSEC1/NM_014869.6/1;CC=c.2233-103G>A;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2191-103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C,T:60:15:0:0:2,58:35,1925:0.00,217.07:0.00,27.62:0.00,189.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:85.0,45.6:0,0:0,0:104,96:44,48:35,28:NM_001134382.2(IQSEC1) c.2191-103G>A,NM_001134382.2(IQSEC1) c.2191-103G>A:0.09,0.09:NOT_FOUND,NOT_FOUND 3 12955293 rs2288962 T G 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8798,G/0.1202;Gene=IQSEC1/NM_014869.6/1;CC=c.2233-240A>C;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2191-240A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:215:24.82:0.00:24.82:1.00:0.00:1.00:60:55.3:0:0:136:15:13:NM_001134382.2(IQSEC1) c.2191-240A>C,NM_001134382.2(IQSEC1) c.2191-240A>C:0.09,0.09:NOT_FOUND,NOT_FOUND 3 12956634 . C . . NT END=12957093;NT GT ./. 3 12956817 rs55881454 C G 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8808,G/0.1192;Gene=IQSEC1/NM_014869.6/1;CC=c.2203-184G>C;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.2161-184G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:2:0:0:10:341:38.87:7.45:31.42:1.00:1.00:1.00:60:52.0:0:0:61:88:29:NM_001134382.2(IQSEC1) c.2161-184G>C,NM_001134382.2(IQSEC1) c.2161-184G>C:0.09,0.09:NOT_FOUND,NOT_FOUND 3 12957234 . C . . NT END=12961929;NT GT ./. 3 12962097 . C . . NT END=12963619;NT GT ./. 3 12962268 rs3773319 T A 67 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.8886,A/0.1114;Gene=IQSEC1/NM_014869.6/1;CC=c.1896-172A>T;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.1854-172A>T;VC=Intron;DM=IQSEC1/Sec7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:0:0:0:20:580:67.43:0.00:67.43:1.00:0.00:1.00:60:39.8:0:0:121:29:22:NM_001134382.2(IQSEC1) c.1854-172A>T,NM_001134382.2(IQSEC1) c.1854-172A>T:0.09,0.09:NOT_FOUND,NOT_FOUND 3 12963445 rs2252275 T A 79 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.2704,A/0.7296;Gene=IQSEC1/NM_014869.6/1;CC=c.1895+175A>T;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.1853+175A>T;VC=Intron;DM=IQSEC1/Sec7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:21:0:0:22:681:78.52:74.75:3.78:1.00:1.00:1.00:60:39.0:0:0:52:99:28:NM_001134382.2(IQSEC1) c.1853+175A>T,NM_001134382.2(IQSEC1) c.1853+175A>T:0.73,0.73:NOT_FOUND,NOT_FOUND 3 12963743 . C . . NT END=12966080;NT GT ./. 3 12966243 . C . . NT END=12976947;NT GT ./. 3 12966446 rs11925499 C G 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8854,G/0.1146;Gene=IQSEC1/NM_014869.6/1;CC=c.1611-204G>C;VC=Intron;Gene=IQSEC1/NM_001134382.2/0;CC=c.1569-204G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:213:24.16:0.00:24.16:1.00:0.00:1.00:60:41.8:0:0:69:80:36:NM_001134382.2(IQSEC1) c.1569-204G>C,NM_001134382.2(IQSEC1) c.1569-204G>C:0.09,0.09:NOT_FOUND,NOT_FOUND 3 12978198 . C . . NT END=12983070;NT GT ./. 3 12983366 . C . . NT END=13008886;NT GT ./. 3 13009199 . G . . NT END=13057077;NT GT ./. 3 13057011 rs4684895 G A 95 nt VT=SNV;PN=C;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.7596,A/0.2404;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+57481C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:61:56:0:0:31,2,27,1:978,19,800,14:95.19,0.10,0.00,0.14:70.91,-0.32,0.00,0.18:24.28,0.42,0.00,-0.04:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:38.2,18.0,9.8,14.0:0,0,0,0:0,0,0,0:36,24,36,70:107,125,110,80:25,12,18,0:NM_001134382.2(IQSEC1) c.23+57481C>T,-:0.22,-:NOT_FOUND,- 3 13057173 rs73014517 G A 132 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.8714,A/0.1286;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+57319C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:77:46:0:0:43,34:1340,1076:131.51,0.00:50.09,0.00:81.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.0,16.5:0,0:0,0:83,75:68,70:28,32:NM_001134382.2(IQSEC1) c.23+57319C>T,-:0.15,-:NOT_FOUND,- 3 13057174 rs73014518 C T 129 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.8714,T/0.1286;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+57318G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:46:0:0:33,43:1073,1311:0.00,128.95:0.00,47.21:0.00,81.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,71.9:0,0:0,0:74,81:72,70:32,31:-,NM_001134382.2(IQSEC1) c.23+57318G>A:-,0.15:-,NOT_FOUND 3 13057211 . C . . NT END=13063532;NT GT ./. 3 13063591 rs165573 A C 374 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=100;DB;DBA=NA;PAF=A/0.07768,C/0.9223;PC=0.830;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+50901T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:100:82:0:0:99,1:3271,10:373.84,0.10:277.73,0.00:96.11,0.10:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,42.0:0,0:0,0:66,60:83,85:34,0:NM_001134382.2(IQSEC1) c.23+50901T>G,NM_001134382.2(IQSEC1) c.23+50901T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 13063981 . C . . NT END=13088977;NT GT ./. 3 13064167 rs360850 T C 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.125,C/0.875;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+50325A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T:7:0:0:0:6,1:132,11:14.75,0.00:0.00,0.00:14.75,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:69.5,171.0:0,0:0,0:70,136:80,15:22,0:NM_001134382.2(IQSEC1) c.23+50325A>G,NM_001134382.2(IQSEC1) c.23+50325A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 13088738 rs360900 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4085,G/0.5915;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+25754T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G:5:5:0:0:2,3:60,95:0.00,9.47:0.00,9.47:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:20.0,36.3:0,0:0,0:50,33:99,118:10,14:-,NM_001134382.2(IQSEC1) c.23+25754T>C:-,0.56:-,NOT_FOUND 3 13089023 . C . . NT END=13114491;NT GT ./. 3 13094397 rs360892 T A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.3548,A/0.6452;PC=0.006;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+20095A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:A,T:9:8:0:0:5,4:173,139:17.00,0.00:13.45,0.00:3.55,0.00:0.96,0.00:1.00,0.00:0.84,0.00:60,60:39.0,0.0:0,0:0,0:28,94:122,57:8,29:NM_001134382.2(IQSEC1) c.23+20095A>T,-:0.64,-:NOT_FOUND,- 3 13114246 rs462825 C G 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.239,G/0.761;PC=0.004;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+246G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:136:15.51:15.51:0.00:1.00:1.00:0.00:60:44.0:0:0:71:78:9:NM_001134382.2(IQSEC1) c.23+246G>C,NM_001134382.2(IQSEC1) c.23+246G>C:0.73,0.73:NOT_FOUND,NOT_FOUND 3 13114408 rs463268 A C 31 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.7913,C/0.2087;Gene=IQSEC1/NM_001134382.2/0;CC=c.23+84T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:18:16:0:0:8,10:247,320:0.00,31.41:0.00,30.54:0.00,0.87:0.00,1.00:0.00,1.00:0.00,0.92:60,60:11.5,34.3:0,0:0,0:34,48:116,103:19,33:-,NM_001134382.2(IQSEC1) c.23+84T>G:-,0.22:-,0.257118 3 13114550 . T . . NT END=13359180;NT GT ./. 3 13238249 rs5846802 CGTGTGTGTGT C 9 sb,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=71;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:CGTGTGTGTGT,I,C:7:6:1:4:3,1,3:101,30,117:0.00,2.40,8.84:0.00,1.20,1.47:0.00,1.20,7.37:0.00,0.00,0.67:0.00,0.00,0.93:0.00,0.00,0.95:60,60,60:10.0,34.0,11.0:0,0,1:0,0,0:69,44,85:42,92,64:43,0,15:-,chr3 g.13238250_13238259delGTGTGTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 13359282 . C . . NT END=13360571;NT GT ./. 3 13359433 rs354477 G A 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.529,A/0.471;Gene=NUP210/NM_024923.3/1;CC=c.5564-152C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:A,G:12:0:0:0:6,6:209,176:20.16,0.00:0.00,0.00:20.16,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:52.5,10.2:0,0:0,0:117,76:33,74:16,25:NM_024923.2(NUP210) c.5564-152C>T,-:0.47,-:NOT_FOUND,- 3 13360513 rs184930 C T 72 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.5797,T/0.4203;Gene=NUP210/NM_024923.3/1;CC=c.5563+59G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:47:0:0:28,23:867,764:0.00,72.17:0.00,59.68:0.00,12.50:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.9,36.0:0,0:0,0:35,30:112,121:29,19:-,NM_024923.2(NUP210) c.5563+59G>A:-,0.43:-,0.350465 3 13360656 . C . . NT END=13360729;NT GT ./. 3 13360826 . C . . NT END=13361262;NT GT ./. 3 13361238 rs2276748 C T 63 nt VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.397,T/0.603;PC=0.005;Gene=NUP210/NM_024923.3/1;CC=c.5383+25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:41:35:0:0:1,20,20:11,650,654:0.05,0.00,62.90:0.15,0.00,49.76:-0.10,0.00,13.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:69.0,2.1,62.8:0,0,0:0,0,0:22,45,41:129,90,109:0,29,34:-,NM_024923.2(NUP210) c.5383+25G>A:-,0.58:-,0.501768 3 13361287 rs354478 C T 104 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.388,T/0.612;PC=0.384;Gene=NUP210/NM_024923.3/1;CC=c.5359G>A;ProtCh=p.V1787M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:60:0:0:41,35:1364,1102:0.00,104.09:0.00,64.79:0.00,39.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,63.3:0,0:0,0:45,49:97,101:34,17:-,NM_024923.2(NUP210) c.5359G>A (p.Val1787Met):-,0.59:-,0.51284 3 13361391 rs354479 A G 150 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.1092,G/0.8908;PC=0.864;Gene=NUP210/NM_024923.3/1;CC=c.5255T>C;ProtCh=p.L1752S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:103:80:0:0:53,50:1722,1572:0.00,149.95:0.00,67.79:0.00,82.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,47.9:0,0:0,0:78,69:66,73:31,41:-,NM_024923.2(NUP210) c.5255T>C (p.Leu1752Ser):-,0.87:-,0.78756 3 13361480 . C . . NT END=13363084;NT GT ./. 3 13363336 . C . . NT END=13363692;NT GT ./. 3 13363840 . C . . NT END=13364808;NT GT ./. 3 13364876 rs514084 G T 137 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.4423,A/.,T/0.5577;PC=0.002;Gene=NUP210/NM_024923.3/1;CC=c.4701C>A;ProtCh=p.T1567=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:91:73:0:0:1,46,44:9,1489,1431:-0.14,0.00,136.98:-0.06,0.00,72.81:-0.08,0.00,64.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:140.0,5.1,36.6:0,0,0:0,0,0:131,73,65:20,75,85:0,37,36:-,NM_024923.2(NUP210) c.4701C>A (p.(=)):-,0.54:-,0.458558 3 13364933 . C . . NT END=13367294;NT GT ./. 3 13367406 rs665064 C T 208 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=C/0.5204,T/0.4796;Gene=NUP210/NM_024923.3/1;CC=c.4533G>A;ProtCh=p.S1511=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:137:86:0:0:72,1,64:2166,5,2183:0.00,-0.20,208.02:0.00,-0.07,97.41:0.00,-0.13,110.62:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:12.4,5.0,37.4:0,0,0:0,0,0:87,52,89:58,96,62:32,0,35:-,NM_024923.2(NUP210) c.=:-,0.48:-,0.384207 3 13367432 . C . . NT END=13368716;NT GT ./. 3 13368892 rs2271509 G A 152 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.6036,A/0.3964;PC=0.109;Gene=NUP210/NM_024923.3/1;CC=c.4332C>T;ProtCh=p.C1444=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:95:58:0:0:49,46:1576,1486:152.45,0.00:63.24,0.00:89.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,13.0:0,0:0,0:88,80:57,70:34,34:NM_024923.2(NUP210) c.4332C>T (p.(=)),-:0.42,-:0.497924,- 3 13368938 . C . . NT END=13370270;NT GT ./. 3 13369091 rs13085948 C T 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8231,T/0.1769;Gene=NUP210/NM_024923.3/1;CC=c.4287-154G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:180:C,T:12:0:0:0:6,6:172,187:0.00,17.97:0.00,0.00:0.00,17.97:0.00,0.98:0.00,0.00:0.00,0.98:60,60:1.7,44.3:0,0:0,0:86,109:64,41:26,8:-,NM_024923.2(NUP210) c.4287-154G>A:-,0.2:-,NOT_FOUND 3 13370447 . C . . NT END=13371959;NT GT ./. 3 13372135 . C . . NT END=13373792;NT GT ./. 3 13373885 . C . . NT END=13376953;NT GT ./. 3 13376795 rs13098069 G A 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.6062,A/0.3938;Gene=NUP210/NM_024923.3/1;CC=c.3843+159C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:9,14:273,421:24.90,0.00:25.01,0.00:-0.11,0.00:1.00,0.00:1.00,0.00:0.59,0.00:60,60:35.4,28.3:0,0:0,0:65,30:86,121:13,19:NM_024923.2(NUP210) c.3843+159C>T,-:0.42,-:NOT_FOUND,- 3 13377113 . C . . NT END=13378286;NT GT ./. 3 13378419 . C . . NT END=13379336;NT GT ./. 3 13379400 rs3773302 C T 131 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.4886,T/0.5114;PC=1.000;Gene=NUP210/NM_024923.3/1;CC=c.3489G>A;ProtCh=p.E1163=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:87:62:0:0:44,1,42:1450,14,1365:0.00,0.04,130.60:0.00,0.13,56.21:0.00,-0.09,74.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.2,155.0,38.5:0,0,0:0,0,0:73,54,80:63,96,52:37,0,23:-,NM_024923.2(NUP210) c.3489G>A (p.(=)):-,0.52:-,0.611871 3 13379418 . C . . NT END=13381353;NT GT ./. 3 13381534 . C . . NT END=13381735;NT GT ./. 3 13381799 . C . . NT END=13383247;NT GT ./. 3 13383384 . C . . NT END=13383495;NT GT ./. 3 13383540 rs2271504 A G 144 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.4233,G/0.5767;PC=1.000;Gene=NUP210/NM_024923.3/1;CC=c.3048T>C;ProtCh=p.F1016=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:94:53:0:0:49,45:1405,1503:0.00,143.58:0.00,54.99:0.00,88.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,39.3:0,0:0,0:56,63:93,86:45,35:-,NM_024923.2(NUP210) c.3048T>C (p.(=)):-,0.57:-,0.656928 3 13383624 . C . . NT END=13384674;NT GT ./. 3 13383982 rs1967220 A G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02616,G/0.9738;Gene=NUP210/NM_024923.3/1;CC=c.2965-359T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,G:4:0:0:0:1,3:26,102:0.00,10.66:0.00,0.00:0.00,10.66:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,38.0:0,0:0,0:39,109:112,42:0,17:-,NM_024923.2(NUP210) c.2965-359T>C:-,0.97:-,NOT_FOUND 3 13384804 . C . . NT END=13386355;NT GT ./. 3 13386687 . C . . NT END=13388589;NT GT ./. 3 13388869 . C . . NT END=13389791;NT GT ./. 3 13390348 . C . . NT END=13393378;NT GT ./. 3 13390629 rs6806012 A G 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4245,G/0.5755;Gene=NUP210/NM_024923.3/1;CC=c.2835+2750T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:6:0:0:0:3,3:67,77:0.00,7.31:0.00,0.00:0.00,7.31:0.00,0.73:0.00,0.00:0.00,0.73:60,60:9.0,50.7:0,0:0,0:100,123:51,28:49,11:-,NM_024923.2(NUP210) c.2835+2750T>C:-,0.57:-,NOT_FOUND 3 13393481 . C . . NT END=13393579;NT GT ./. 3 13393685 . C . . NT END=13395053;NT GT ./. 3 13395161 . C . . NT END=13395414;NT GT ./. 3 13395579 rs2280084 C A 195 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=115;DB;DBA=NA;PAF=C/0.4249,A/0.5751,T/.;PC=0.382;Gene=NUP210/NM_024923.3/1;CC=c.2357G>T;ProtCh=p.R786L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:115:67:0:0:60,55:2009,1630:195.08,0.00:77.95,0.00:117.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.0,9.4:0,0:0,0:88,88:61,51:31,34:NM_024923.2(NUP210) c.2357G>T (p.Arg786Leu),-:0.57,-:0.656971,- 3 13395608 . C . . NT END=13399721;NT GT ./. 3 13399786 rs6795271 G A 187 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.8187,A/0.1813;PC=0.505;Gene=NUP210/NM_024923.3/1;CC=c.2264C>T;ProtCh=p.A755V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:97:0:0:62,72:1972,2375:186.57,0.00:105.12,0.00:81.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,6.6:0,0:0,0:82,68:66,79:34,40:NM_024923.2(NUP210) c.2264C>T (p.Ala755Val),-:0.21,-:0.310165,- 3 13399896 . C . . NT END=13401769;NT GT ./. 3 13399948 rs6807718 T C 109 nt VT=SNV;PN=C;NN=C;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.8187,C/0.1813;Gene=NUP210/NM_024923.3/1;CC=c.2155-53A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:82:32:0:0:37,45:1155,1431:108.62,0.00:25.37,0.00:83.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.8,12.5:0,0:0,0:119,111:29,36:19,25:NM_024923.2(NUP210) c.2155-53A>G,-:0.21,-:NOT_FOUND,- 3 13401992 . C . . NT END=13407445;NT GT ./. 3 13402150 rs877511 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4233,T/0.5767;Gene=NUP210/NM_024923.3/1;CC=c.1933-159G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:8,7:254,214:0.00,20.23:0.00,0.00:0.00,20.23:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.0,32.0:0,0:0,0:77,109:73,42:30,15:-,NM_024923.2(NUP210) c.1933-159G>A:-,0.57:-,NOT_FOUND 3 13407556 rs3732671 T C 166 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.4213,C/0.5787;PC=0.985;Gene=NUP210/NM_024923.3/1;CC=c.1822A>G;ProtCh=p.I608V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:104:57:0:0:1,55,48:11,1708,1583:-0.08,166.10,0.00:-0.07,68.52,0.00:-0.02,97.58,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:31.0,37.3,1.5:0,0,0:0,0,0:83,102,70:67,49,73:0,40,26:NM_024923.2(NUP210) c.1822A>G (p.Ile608Val),-:0.57,-:0.656159,- 3 13407592 . C . . NT END=13413333;NT GT ./. 3 13413533 . C . . NT END=13415217;NT GT ./. 3 13414992 rs6774485 T C 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4804,C/0.5196;Gene=NUP210/NM_024923.3/1;CC=c.1587+226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:A,C,T:9:9:0:0:1,3,5:11,87,161:0.42,7.82,0.00:0.42,7.82,0.00:0.00,0.00,0.00:0.00,0.64,0.00:0.00,0.64,0.00:0.00,0.00,0.00:60,60,60:132.0,44.3,36.6:0,0,0:0,0,0:46,44,28:94,107,123:0,28,22:NM_024923.2(NUP210) c.1587+226A>G,-:0.53,-:NOT_FOUND,- 3 13415146 rs6810356 G T 36 nt VT=SNV;PN=G;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.4832,T/0.5168;Gene=NUP210/NM_024923.3/1;CC=c.1587+72C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:36:34:0:0:21,15:653,396:0.00,36.08:0.00,32.17:0.00,3.91:0.00,1.00:0.00,1.00:0.00,0.95:60,60:17.5,34.5:0,0:0,0:46,49:105,102:34,35:-,NM_024923.2(NUP210) c.1587+72C>A:-,0.53:-,NOT_FOUND 3 13415374 . C . . NT END=13417003;NT GT ./. 3 13417142 . C . . NT END=13417790;NT GT ./. 3 13417387 rs397799636 T TC 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.611,TC/0.389,TCC/.;DB;DBA=NA;PAF=T/0.611,TC/0.389;NP=69;Gene=NUP210/NM_024923.3/1;CC=c.1294-247_1294-246insG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:T,TC:8:0:3:0:5,3:151,91:0.00,8.23:0.00,0.00:0.00,8.23:0.00,0.67:0.00,0.00:0.00,0.67:60,60:2.6,9.7:0,0:0,0:142,111:9,40:2,27:-,NM_024923.2(NUP210) c.1294-247_1294-246insG:-,NOT_FOUND:-,NOT_FOUND 3 13417932 . C . . NT END=13418955;NT GT ./. 3 13418086 rs6442377 C A 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.4876,A/0.5124;Gene=NUP210/NM_024923.3/1;CC=c.1153-155G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:18:1:0:0:8,10:256,335:24.05,0.00:-0.26,0.00:24.30,0.00:0.99,0.00:0.63,0.00:1.00,0.00:60,60:50.2,6.0:0,0:0,0:85,133:65,18:16,4:NM_024923.2(NUP210) c.1153-155G>T,-:0.52,-:NOT_FOUND,- 3 13419063 . C . . NT END=13420411;NT GT ./. 3 13419123 rs397988751 T TG 56 nt VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.8181,TG/0.1819;DB;DBA=NA;PAF=T/0.8181,TG/0.1819;NP=1581;Gene=NUP210/NM_024923.3/1;CC=c.1046-62dupC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TG:35:18:19:0:16,19:532,571:0.00,55.67:0.00,20.82:0.00,34.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,12.1:0,0:0,0:117,131:33,20:15,10:-,NM_024923.2(NUP210) c.1046-62_1046-61insC:-,0.2:-,NOT_FOUND 3 13420481 . C . . NT END=13421062;NT GT ./. 3 13420624 rs6442378 G A 22 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.483,A/0.517;Gene=NUP210/NM_024923.3/1;CC=c.977-144C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:0:0:0:7,8:227,242:21.55,0.00:0.00,0.00:21.55,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:41.3,13.9:0,0:0,0:99,93:52,58:33,39:NM_024923.2(NUP210) c.977-144C>T,-:0.53,-:NOT_FOUND,- 3 13421150 rs7628051 C T 210 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=144;DB;DBA=NA;PAF=C/0.483,T/0.517;Gene=NUP210/NM_024923.3/1;CC=c.889G>A;ProtCh=p.A297T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:144:108:0:0:72,72:2431,2190:0.00,209.85:0.00,102.70:0.00,107.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,41.5:0,0:0,0:73,74:57,74:32,33:-,NM_024923.2(NUP210) c.889G>A (p.Ala297Thr):-,0.53:-,0.61587 3 13421222 . C . . NT END=13427774;NT GT ./. 3 13421320 rs7625586 T C 58 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.4802,C/0.5198;Gene=NUP210/NM_024923.3/1;CC=c.818-99A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:4:0:0:19,12:581,349:58.21,0.00:0.97,0.00:57.24,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:43.5,21.1:0,0:0,0:101,120:49,30:27,9:NM_024923.2(NUP210) c.818-99A>G,-:0.53,-:NOT_FOUND,- 3 13421456 rs11303861 TA T 9 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=27;Gene=NUP210/NM_024923.3/1;CC=c.818-236delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TA,T:7:0:0:3:4,3:127,97:0.00,9.06:0.00,0.00:0.00,9.06:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,0.0:0,0:0,0:121,89:29,61:12,10:-,NM_024923.2(NUP210) c.818-236delT:-,NOT_FOUND:-,NOT_FOUND 3 13427908 . C . . NT END=13429802;NT GT ./. 3 13427998 rs6442380 G T 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.4936,T/0.5064;Gene=NUP210/NM_024923.3/1;CC=c.685-91C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:38:7:0:0:18,20:592,635:0.00,61.59:0.00,7.51:0.00,54.08:0.00,1.00:0.00,0.99:0.00,1.00:60,60:0.0,35.4:0,0:0,0:132,113:18,36:15,22:-,NM_024923.2(NUP210) c.685-91C>A:-,0.52:-,NOT_FOUND 3 13429954 . C . . NT END=13432710;NT GT ./. 3 13432581 rs6442382 A G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4307,G/0.5693;Gene=NUP210/NM_024923.3/1;CC=c.533+130T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,G:13:13:0:0:5,8:136,263:0.00,26.36:0.00,26.36:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:22.4,51.1:0,0:0,0:56,46:95,104:19,18:-,NM_024923.2(NUP210) c.533+130T>C:-,0.57:-,NOT_FOUND 3 13432808 . C . . NT END=13438856;NT GT ./. 3 13438830 rs13066607 A G 181 nt VT=SNV;PN=A;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.4776,G/0.5224;Gene=NUP210/NM_024923.3/1;CC=c.436+27T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:112:97:0:0:55,56,1:1895,1882,12:0.00,181.48,-0.07:0.00,121.77,0.01:0.00,59.71,-0.08:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:3.9,42.6,32.0:0,0,0:0,0,0:46,70,149:95,78,2:26,33,0:-,NM_024923.2(NUP210) c.436+27T>C:-,0.53:-,0.634015 3 13438989 . C . . NT END=13441224;NT GT ./. 3 13441362 . C . . NT END=13461559;NT GT ./. 3 13461727 . c . . NT END=13521847;NT GT ./. 3 13511387 rs71066970 TTGTG T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=31;PC=0.083;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:TTGTG,I,T:4:4:1:2:1,1,2:33,29,66:0.00,2.65,6.65:0.00,1.33,5.06:0.00,1.33,1.59:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.89:60,60,60:0.0,48.0,0.0:0,0,0:0,0,0:16,48,49:26,100,100:0,0,13:-,chr3 g.13511388_13511391delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 13521947 . G . . NT END=13522745;NT GT ./. 3 13522895 . G . . NT END=13524963;NT GT ./. 3 13522973 rs2675232 C T 106 nt VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.9012,T/0.09884;Gene=HDAC11/NM_024827.3/1;CC=c.151+79C>T;VC=Intron;Gene=HDAC11/NM_001136041.2/0;CC=c.67+79C>T;VC=Intron;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:59:16:0:0:1,25,33:8,817,1076:-0.09,0.00,106.12:-0.02,0.00,27.07:-0.07,0.00,79.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:70.0,10.8,50.0:0,0,0:0,0,0:101,99,115:28,50,34:0,32,20:-,NM_024827.3(HDAC11) c.151+79C>T:-,0.12:-,NOT_FOUND 3 13523010 rs2655218 T C 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.2778,C/0.7222;PC=0.005;Gene=HDAC11/NM_024827.3/1;CC=c.151+116T>C;VC=Intron;Gene=HDAC11/NM_001136041.2/0;CC=c.67+116T>C;VC=Intron;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:2:0:0:18,20:562,635:53.38,0.00:1.49,0.00:51.89,0.00:1.00,0.00:0.77,0.00:1.00,0.00:60,60:63.5,17.9:0,0:0,0:130,108:20,42:10,29:NM_024827.3(HDAC11) c.151+116T>C,-:0.68,-:NOT_FOUND,- 3 13525065 . G . . NT END=13538235;NT GT ./. 3 13538012 rs2290193 A C 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5365,C/0.4635;Gene=HDAC11/NM_024827.3/1;CC=c.253-224A>C;VC=Intron;Gene=HDAC11/NM_001136041.2/0;CC=c.169-293A>C;VC=Intron;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,C:5:5:0:0:2,3:68,107:0.00,10.67:0.00,10.67:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,35.7:0,0:0,0:85,55:66,96:12,24:-,NM_024827.3(HDAC11) c.253-224A>C:-,0.43:-,NOT_FOUND 3 13538353 . G . . NT END=13540012;NT GT ./. 3 13540056 . G . . NT END=13542212;NT GT ./. 3 13542290 . G . . NT END=13543370;NT GT ./. 3 13543434 . G . . NT END=13544383;NT GT ./. 3 13544310 rs2290197 G A 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.8247,A/0.1753;PC=0.004;Gene=HDAC11/NM_024827.3/1;CC=c.553-74G>A;VC=Intron;Gene=HDAC11/NM_001136041.2/0;CC=c.400-74G>A;VC=Intron;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl;DM=HDAC11/Hist_deacetyl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:38:0:0:20,19:597,586:57.47,0.00:49.76,0.00:7.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,14.9:0,0:0,0:44,32:106,119:25,20:NM_024827.3(HDAC11) c.553-74G>A,-:0.16,-:NOT_FOUND,- 3 13544481 . G . . NT END=13545593;NT GT ./. 3 13545773 . G . . NT END=13545967;NT GT ./. 3 13546184 . C . . NT END=13573970;NT GT ./. 3 13574008 . G . . NT END=13590624;NT GT ./. 3 13574068 rs397988760 AC A 240 rn VT=DEL;SST=Single;DP=78;DB;DBA=NA;PAF=AC/0.5619,A/0.4381;DB;DBA=NA;PAF=AC/0.5619,A/0.4381;NP=559;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:AC,A:78:40:0:71:7,71:176,2164:0.00,240.23:0.00,73.68:0.00,166.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.6,9.1:0,0:0,0:143,104:7,45:6,22:chr3 g.13574069delC (intergenic),chr3 g.13574069delC (intergenic):0.46,0.46:NOT_FOUND,NOT_FOUND 3 13590709 . G . . NT END=13610239;NT GT ./. 3 13610167 rs66666603 CAG C 32 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=CAG/0.3001,C/0.6999;DB;DBA=NA;PAF=CAG/0.3001,C/0.6999;NP=46;PC=0.021;Gene=FBLN2/NM_001004019.1/0;CC=c.-41-1644_-41-1643delGA;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.-41-1644_-41-1643delGA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAG,C:34:33:0:11:23,11:767,359:0.00,31.86:0.00,32.37:0.00,-0.51:0.00,1.00:0.00,1.00:0.00,0.85:60,60:18.4,26.5:0,0:0,0:30,56:121,93:16,14:-,NM_001165035.1(FBLN2) c.-382-u72_-382-u71delAG:-,0.72:-,NOT_FOUND 3 13610260 rs13064779 T C 124 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.3009,C/0.6991;PC=0.012;Gene=FBLN2/NM_001004019.1/0;CC=c.-41-1555T>C;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.-41-1555T>C;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.-362T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:97:87:0:0:41,56:1331,1757:123.97,0.00:113.91,0.00:10.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,18.6:0,0:0,0:47,57:104,88:19,28:NM_001165035.1(FBLN2) c.-362T>C,-:0.73,-:NOT_FOUND,- 3 13610539 rs908812 C T 429 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.1482,T/0.8518;Gene=FBLN2/NM_001004019.1/0;CC=c.-41-1276C>T;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.-41-1276C>T;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.-83C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:118:64:0:0:1,117:10,3753:0.00,429.23:0.00,149.11:0.00,280.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:117.0,59.0:0,0:0,0:50,89:98,56:0,31:NM_001165035.1(FBLN2) c.-83C>T,NM_001165035.1(FBLN2) c.-83C>T:0.84,0.84:NOT_FOUND,NOT_FOUND 3 13610577 rs908811 T G 338 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.1382,G/0.8618;Gene=FBLN2/NM_001004019.1/0;CC=c.-41-1238T>G;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.-41-1238T>G;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.-45T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:37:0:0:92:2947:338.30:83.13:255.17:1.00:1.00:1.00:60:66.6:0:0:92:56:34:NM_001165035.1(FBLN2) c.-45T>G,NM_001165035.1(FBLN2) c.-45T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 13610581 . G . . NT END=13611814;NT GT ./. 3 13613162 . G . . NT END=13649561;NT GT ./. 3 13649674 . G . . NT END=13651012;NT GT ./. 3 13651143 . G . . NT END=13655483;NT GT ./. 3 13655665 . G . . NT END=13659575;NT GT ./. 3 13659786 . G . . NT END=13660403;NT GT ./. 3 13660518 . G . . NT END=13661229;NT GT ./. 3 13660969 rs9857050 G T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.09065,T/0.9093;PC=0.001;Gene=FBLN2/NM_001004019.1/0;CC=c.2054-261G>T;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2054-261G>T;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2054-261G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,T:5:5:0:0:2,3:63,106:0.00,10.57:0.00,10.57:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,46.3:0,0:0,0:56,44:94,106:35,18:-,NM_001165035.1(FBLN2) c.2054-261G>T:-,0.89:-,NOT_FOUND 3 13661104 rs41293409 A C 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.9854,C/0.01458;Gene=FBLN2/NM_001004019.1/0;CC=c.2054-126A>C;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2054-126A>C;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2054-126A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:A,C:22:22:0:0:16,6:521,192:0.00,16.47:0.00,16.47:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:3.8,32.0:0,0:0,0:48,45:102,106:28,12:-,NM_001165035.1(FBLN2) c.2054-126A>C:-,0.02:-,NOT_FOUND 3 13661332 . G . . NT END=13663274;NT GT ./. 3 13661601 rs4684964 C T 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.09924,T/0.9008;Gene=FBLN2/NM_001004019.1/0;CC=c.2155+270C>T;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2155+270C>T;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2155+270C>T;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:C,T:4:0:0:0:1,3:25,98:0.00,10.26:0.00,0.00:0.00,10.26:0.00,0.85:0.00,0.00:0.00,0.85:60,60:8.0,60.0:0,0:0,0:134,123:17,28:0,13:-,NM_001165035.1(FBLN2) c.2155+270C>T:-,0.9:-,NOT_FOUND 3 13663149 rs7630380 C A 40 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9423,A/0.05771;Gene=FBLN2/NM_001004019.1/0;CC=c.2156-126C>A;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2155+1818C>A;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2156-126C>A;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:24:22:0:0:13,11:410,374:40.01,0.00:35.55,0.00:4.46,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:40.8,13.5:0,0:0,0:39,59:112,91:27,25:NM_001165035.1(FBLN2) c.2156-126C>A,-:0.06,-:NOT_FOUND,- 3 13663416 . G . . NT END=13667944;NT GT ./. 3 13663559 rs3773263 C T 26 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4653,T/0.5347;Gene=FBLN2/NM_001004019.1/0;CC=c.2296+144C>T;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2155+2228C>T;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2296+144C>T;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:12,8:359,277:0.00,25.67:0.00,0.00:0.00,25.67:0.00,0.99:0.00,0.00:0.00,0.99:60,60:17.7,60.6:0,0:0,0:87,92:64,57:21,27:-,NM_001165035.1(FBLN2) c.2296+144C>T:-,0.55:-,NOT_FOUND 3 13663587 rs17038350 C T 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9792,T/0.02077;PC=0.001;Gene=FBLN2/NM_001004019.1/0;CC=c.2296+172C>T;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2155+2256C>T;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2296+172C>T;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,T:16:0:0:0:10,6:287,187:0.00,16.99:0.00,0.00:0.00,16.99:0.00,0.95:0.00,0.00:0.00,0.95:60,60:14.4,69.5:0,0:0,0:112,107:38,43:18,17:-,NM_001165035.1(FBLN2) c.2296+172C>T:-,0.02:-,NOT_FOUND 3 13668080 . G . . NT END=13669331;NT GT ./. 3 13669135 rs41293415 G A 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9637,A/0.03634;Gene=FBLN2/NM_001004019.1/0;CC=c.2432-197G>A;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2291-197G>A;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2432-197G>A;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:17:0:0:8,9:241,269:22.80,0.00:22.80,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:38.4,16.7:0,0:0,0:25,74:125,77:15,24:NM_001165035.1(FBLN2) c.2432-197G>A,-:0.04,-:NOT_FOUND,- 3 13669470 . G . . NT END=13670404;NT GT ./. 3 13670508 rs41283996 G A 304 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=192;DB;DBA=NA;PAF=G/0.9519,A/0.04812;PC=0.002;Gene=FBLN2/NM_001004019.1/0;CC=c.2673G>A;ProtCh=p.A891=;VC=Silent;Gene=FBLN2/NM_001998.2/0;CC=c.2532G>A;ProtCh=p.A844=;VC=Silent;Gene=FBLN2/NM_001165035.1/1;CC=c.2673G>A;ProtCh=p.A891=;VC=Silent;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:192:151:0:0:99,93:3151,2976:304.49,0.00:198.22,0.00:106.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,8.6:0,0:0,0:70,67:74,79:41,32:NM_001165035.1(FBLN2) c.2673G>A (p.(=)),-:0.04,-:0.070332,- 3 13670549 . G . . NT END=13670663;NT GT ./. 3 13670793 . G . . NT END=13671319;NT GT ./. 3 13670962 rs896053 A G 150 nt VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.005391,G/0.9946;Gene=FBLN2/NM_001004019.1/0;CC=c.2842+170A>G;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2701+170A>G;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2842+170A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:G:40:0:0:0:40:1306:149.58:0.00:149.58:1.00:0.00:1.00:60:55.2:0:0:105:45:29:NM_001165035.1(FBLN2) c.2842+170A>G,NM_001165035.1(FBLN2) c.2842+170A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 13671273 rs41283997 T C 125 nt VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.9595,C/0.04054;Gene=FBLN2/NM_001004019.1/0;CC=c.2843-47T>C;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2702-47T>C;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.2843-47T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:89:83:0:0:42,47:1318,1509:125.10,0.00:99.87,0.00:25.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,12.7:0,0:0,0:61,52:83,79:27,35:NM_001165035.1(FBLN2) c.2843-47T>C,-:0.04,-:0.043959,- 3 13671446 . G . . NT END=13672198;NT GT ./. 3 13672316 . G . . NT END=13672828;NT GT ./. 3 13672400 rs41284003 A G 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.9826,G/0.01737;Gene=FBLN2/NM_001004019.1/0;CC=c.3085+85A>G;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.2944+85A>G;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3085+85A>G;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:4:0:0:18,14:571,412:0.00,38.32:0.00,2.79:0.00,35.53:0.00,1.00:0.00,0.90:0.00,1.00:60,60:2.6,53.3:0,0:0,0:113,92:37,51:17,19:-,NM_001165035.1(FBLN2) c.3085+85A>G:-,0.02:-,NOT_FOUND 3 13672958 . G . . NT END=13677944;NT GT ./. 3 13677622 rs73042968 G A 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.26,A/0.74;PC=0.007;Gene=FBLN2/NM_001004019.1/0;CC=c.3215-323G>A;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3074-323G>A;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3215-323G>A;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:161.8:0:0:39:111:16:NM_001165035.1(FBLN2) c.3215-323G>A,NM_001165035.1(FBLN2) c.3215-323G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 3 13677623 rs73042969 G A 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2592,A/0.7408;PC=0.015;Gene=FBLN2/NM_001004019.1/0;CC=c.3215-322G>A;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3074-322G>A;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3215-322G>A;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:161.8:0:0:40:110:16:NM_001165035.1(FBLN2) c.3215-322G>A,NM_001165035.1(FBLN2) c.3215-322G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 3 13677642 rs9880802 A G 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.008786,G/0.9912;Gene=FBLN2/NM_001004019.1/0;CC=c.3215-303A>G;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3074-303A>G;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3215-303A>G;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:94:11.25:11.25:0.00:1.00:1.00:0.00:60:161.8:0:0:59:91:16:NM_001165035.1(FBLN2) c.3215-303A>G,NM_001165035.1(FBLN2) c.3215-303A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 13677668 rs34508980 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1723,G/0.8277;Gene=FBLN2/NM_001004019.1/0;CC=c.3215-277A>G;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3074-277A>G;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3215-277A>G;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:143.5:0:0:69:81:16:NM_001165035.1(FBLN2) c.3215-277A>G,NM_001165035.1(FBLN2) c.3215-277A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 13677751 rs3816411 T C 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4181,C/0.5819;Gene=FBLN2/NM_001004019.1/0;CC=c.3215-194T>C;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3074-194T>C;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3215-194T>C;VC=Intron;DM=FBLN2/EGF_CA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:15:0:0:15:460:53.07:53.07:0.00:1.00:1.00:0.00:60:56.3:0:0:58:91:8:NM_001165035.1(FBLN2) c.3215-194T>C,NM_001165035.1(FBLN2) c.3215-194T>C:0.6,0.6:NOT_FOUND,NOT_FOUND 3 13678069 . G . . NT END=13679061;NT GT ./. 3 13678173 rs2290188 G T 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=FBLN2/NM_001004019.1/0;CC=c.3338+105G>T;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3197+105G>T;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3338+105G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:7:0:0:22,20:685,634:0.00,60.33:0.00,6.66:0.00,53.66:0.00,1.00:0.00,0.98:0.00,1.00:60,60:13.4,40.0:0,0:0,0:111,119:39,32:31,19:-,NM_001165035.1(FBLN2) c.3338+105G>T:-,0.59:-,NOT_FOUND 3 13678764 rs66896765 G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9367,A/0.0633;Gene=FBLN2/NM_001004019.1/0;CC=c.3339-298G>A;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3198-298G>A;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3339-298G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:6:6:0:0:3,3:86,91:8.22,0.00:8.22,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:62.3,73.0:0,0:0,0:21,57:124,92:8,1:NM_001165035.1(FBLN2) c.3339-298G>A,-:0.05,-:NOT_FOUND,- 3 13679044 rs4684148 G A 127 nt VT=SNV;PN=C;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.5066,A/0.4934;Gene=FBLN2/NM_001004019.1/0;CC=c.3339-18G>A;VC=Intron;Gene=FBLN2/NM_001998.2/0;CC=c.3198-18G>A;VC=Intron;Gene=FBLN2/NM_001165035.1/1;CC=c.3339-18G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:98:81:0:0:42,55,1:1353,1582,13:126.64,0.00,-0.05:86.96,0.00,0.04:39.68,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.7,10.5,46.0:0,0,0:0,0,0:37,47,140:98,101,11:25,27,0:NM_001165035.1(FBLN2) c.3339-18G>A,-:0.48,-:0.391919,- 3 13679203 rs1061375 G A 236 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=G/0.4842,A/0.5158;Gene=FBLN2/NM_001004019.1/0;CC=c.3480G>A;ProtCh=p.T1160=;VC=Silent;Gene=FBLN2/NM_001998.2/0;CC=c.3339G>A;ProtCh=p.T1113=;VC=Silent;Gene=FBLN2/NM_001165035.1/1;CC=c.3480G>A;ProtCh=p.T1160=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:162:113:0:0:73,88,1:2495,2733,11:236.21,0.00,-0.15:123.82,0.00,-0.12:112.39,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.5,12.2,104.0:0,0,0:0,0,0:68,69,72:76,77,74:26,27,0:NM_001165035.1(FBLN2) c.3480G>A (p.(=)),-:0.5,-:0.417674,- 3 13679335 rs1061376 C T 194 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=C/0.5052,T/0.4948;PC=0.003;Gene=FBLN2/NM_001004019.1/0;CC=c.3612C>T;ProtCh=p.D1204=;VC=Silent;Gene=FBLN2/NM_001998.2/0;CC=c.3471C>T;ProtCh=p.D1157=;VC=Silent;Gene=FBLN2/NM_001165035.1/1;CC=c.3612C>T;ProtCh=p.D1204=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:157:96:0:0:94,63:2956,2101:0.00,194.30:0.00,81.97:0.00,112.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,43.7:0,0:0,0:80,77:62,74:31,42:-,NM_001165035.1(FBLN2) c.3612C>T (p.(=)):-,0.48:-,0.387842 3 13679420 . G . . NT END=13860440;NT GT ./. 3 13723574 . T C 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;NP=3;Gene=LINC00620/NR_027103.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:71,66:6.85,0.00:5.31,0.00:1.54,0.00:0.51,0.00:0.51,0.00:0.89,0.00:60,60:35.5,66.0:2,1:0,0:73,18:44,99:25,13:NR_027103.1(LINC00620) n.114-6038T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 13733624 rs11708412 G A 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8898,A/0.1102;Gene=LINC00620/NR_027103.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:5:4:0:0:3,2:108,69:10.77,0.00:5.38,0.00:5.38,0.00:0.78,0.00:0.97,0.00:0.97,0.00:60,60:36.0,15.5:0,0:0,0:76,39:74,111:3,33:NR_027103.1(LINC00620) n.217+3909G>A,-:0.15,-:NOT_FOUND,- 3 13860921 . C . . NT END=13896028;NT GT ./. 3 13860957 rs79020924 A G 112 nt VT=SNV;PN=C;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.8734,G/0.1266;PC=0.190;Gene=WNT7A/NM_004625.3/1;CC=c.571-37T>C;VC=Intron;DM=WNT7A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:86:25:0:0:49,1,36:1492,10,1199:0.00,-0.14,111.92:0.00,-0.04,19.01:0.00,-0.10,92.91:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.2,70.0,47.0:0,0,0:0,0,0:105,143,104:39,8,43:23,0,25:-,NM_004625.3(WNT7A) c.571-37T>C:-,0.15:-,0.158465 3 13895817 rs3762720 C G 65 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.2153,G/0.7847;Gene=WNT7A/NM_004625.3/1;CC=c.570+212G>C;VC=Intron;DM=WNT7A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A,G,T:21:21:0:0:1,19,1:20,571,9:1.18,65.28,0.29:1.18,65.28,0.29:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:155.0,44.1,141.0:0,0,0:0,0,0:80,43,111:70,107,40:0,23,0:NM_004625.3(WNT7A) c.570+212G>C,NM_004625.3(WNT7A) c.570+212G>C:0.77,0.77:NOT_FOUND,NOT_FOUND 3 13896140 rs3762719 A G 307 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=207;DB;DBA=NA;PAF=A/0.7492,G/0.2508;PC=0.016;Gene=WNT7A/NM_004625.3/1;CC=c.459T>C;ProtCh=p.S153=;VC=Silent;DM=WNT7A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:207:142:0:0:102,105:3392,3196:0.00,307.32:0.00,158.19:0.00,149.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,39.9:0,0:0,0:62,65:83,76:35,41:-,NM_004625.3(WNT7A) c.459T>C (p.(=)):-,0.27:-,0.180071 3 13896284 rs12639607 C T 239 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.7786,T/0.2214;PC=0.022;Gene=WNT7A/NM_004625.3/1;CC=c.315G>A;ProtCh=p.A105=;VC=Silent;DM=WNT7A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:148:68:0:0:70,1,77:2158,11,2464:0.00,-0.12,238.94:0.00,-0.06,82.70:0.00,-0.06,156.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.9,54.0,42.9:0,0,0:0,0,0:89,101,97:55,41,54:38,0,36:-,NM_004625.3(WNT7A) c.315G>A (p.(=)):-,0.24:-,0.140935 3 13896301 . C . . NT END=13916443;NT GT ./. 3 13916407 rs3749319 G T 94 nt VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.4619,T/0.5381;Gene=WNT7A/NM_004625.3/1;CC=c.298+37C>A;VC=Intron;DM=WNT7A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:66:61:0:0:35,31:1029,994:0.00,94.37:0.00,82.32:0.00,12.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,44.9:0,0:0,0:45,61:105,90:35,36:-,NM_004625.3(WNT7A) c.298+37C>A:-,0.55:-,0.477406 3 13916671 . C . . NT END=13921242;NT GT ./. 3 13921032 rs73023640 C G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9962,G/0.003794;NP=15;Gene=WNT7A/NM_004625.3/1;CC=c.71+211G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,G:8:8:0:0:4,4:111,115:0.00,10.98:0.00,10.98:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:2.0,43.8:0,0:0,0:23,56:127,94:16,2:-,NM_004625.3(WNT7A) c.71+211G>C:-,0.01:-,NOT_FOUND 3 13921314 . A . . NT END=14154386;NT GT ./. 3 13977374 rs6772864 A G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1110;Gene=FGD5P1/NR_036481.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:130:14.91:14.91:0.00:1.00:1.00:0.00:60:71.8:0:0:16:133:9:NR_036481.1(FGD5P1) n.2307A>G,NR_036481.1(FGD5P1) n.2307A>G:1,1:NOT_FOUND,NOT_FOUND 3 13977408 rs56257623 GT G 16 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1130;PC=0.953;Gene=FGD5P1/NR_036481.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:5:5:134:15.78:15.78:0.00:1.00:1.00:0.00:60:63.0:0:0:43:108:15:NR_036481.1(FGD5P1) n.2342delT,NR_036481.1(FGD5P1) n.2342delT:1,1:NOT_FOUND,NOT_FOUND 3 13977528 rs55648658 GA G 57 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1673;PC=0.005;Gene=FGD5P1/NR_036481.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:10:0:15:15:495:56.65:25.00:31.65:1.00:1.00:1.00:60:8.3:0:0:97:54:11:NR_036481.1(FGD5P1) n.2462delA,NR_036481.1(FGD5P1) n.2462delA:1,1:NOT_FOUND,NOT_FOUND 3 13977703 rs6773180 A C 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=941;Gene=FGD5P1/NR_036481.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:122:14.11:3.78:10.33:1.00:1.00:1.00:60:48.8:0:0:126:24:9:NR_036481.1(FGD5P1) n.2636A>C,NR_036481.1(FGD5P1) n.2636A>C:1,1:NOT_FOUND,NOT_FOUND 3 14105882 rs4684179 C A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.891;Gene=TPRXL/NR_002223.3/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:147:17.05:9.35:7.70:1.00:1.00:1.00:60:79.8:0:0:46:80:30:NR_002223.3(TPRXL) n.661C>A,NR_002223.3(TPRXL) n.661C>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 14154231 rs2731316 T G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.3181,G/0.6819;PC=0.875;Gene=CHCHD4/NM_001098502.1/0;CC=c.*156A>C;VC=3UTR;Gene=CHCHD4/NM_144636.2/1;CC=c.*156A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:G,T:11:11:0:0:7,4:218,128:21.96,0.00:21.96,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.9,27.0:0,0:0,0:78,33:73,117:21,23:NM_144636.2(CHCHD4) c.*156A>C,-:0.66,-:NOT_FOUND,- 3 14154695 . C . . NT END=14157925;NT GT ./. 3 14158025 . C . . NT END=14163416;NT GT ./. 3 14163587 . C . . NT END=14166154;NT GT ./. 3 14165963 rs3733169 C T 9 end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6837,T/0.3163;Gene=CHCHD4/NM_001098502.1/0;CC=c.22+192G>A;VC=Intron;Gene=CHCHD4/NM_144636.2/1;CC=c.-110+192G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:C,T:8:8:0:0:5,3:166,97:0.00,8.83:0.00,8.83:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:5.0,32.3:0,0:0,0:60,3:91,148:17,1:-,NM_144636.2(CHCHD4) c.-110+192G>A:-,0.28:-,NOT_FOUND 3 14166177 . G . . NT END=14166693;NT GT ./. 3 14166706 . G . . NT END=14170911;NT GT ./. 3 14170807 . TA T 17 idl,rn VT=DEL;SST=Single;DP=27;Gene=TMEM43/NM_024334.2/1;CC=c.13-78delA;VC=Intron;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:TA,T:20:26:0:13:14,6:394,421:0.00,17.43:0.00,17.53:0.00,-0.10:0.00,0.91:0.00,0.99:0.00,0.48:60,60:22.5,77.8:0,7:0,0:94,69:40,79:29,9:-,NM_024334.2(TMEM43) c.13-104delA:-,NOT_FOUND:-,NOT_FOUND 3 14171062 . G . . NT END=14172321;NT GT ./. 3 14172457 . G . . NT END=14173079;NT GT ./. 3 14173175 . G . . NT END=14174045;NT GT ./. 3 14173963 rs4685074 G T 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.5437,T/0.4563;PC=0.052;Gene=TMEM43/NM_024334.2/1;CC=c.393-83G>T;VC=Intron;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:44:40:0:0:23,21:694,623:0.00,59.05:0.00,39.72:0.00,19.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,34.0:0,0:0,0:36,23:112,125:24,12:-,NM_024334.2(TMEM43) c.393-83G>T:-,0.45:-,NOT_FOUND 3 14174096 . G . . NT END=14174365;NT GT ./. 3 14174146 rs4685075 T C 100 nt VT=SNV;PN=G;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.4427,C/0.5573,G/.;Gene=TMEM43/NM_024334.2/1;CC=c.442+51T>C;VC=Intron;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:33:0:0:31,30:1037,1001:100.12,0.00:49.50,0.00:50.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,3.5:0,0:0,0:101,93:49,57:26,32:NM_024334.2(TMEM43) c.442+51T>C,-:0.55,-:0.461556,- 3 14174427 rs4685076 A T 63 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=in-clinvar;PAF=A/0.6474,T/0.3526;PC=1.000;Gene=TMEM43/NM_024334.2/1;CC=c.504A>T;ProtCh=p.K168N;VC=Missense;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:48:29:0:0:27,21:776,670:0.00,62.77:0.00,26.11:0.00,36.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,36.0:0,0:0,0:103,99:47,45:24,14:-,NM_024334.2(TMEM43) c.504A>T (p.Lys168Asn):-,0.33:-,0.28756 3 14174436 . G . . NT END=14175238;NT GT ./. 3 14175262 rs2340917 T C 96 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=in-clinvar;PAF=T/0.5367,C/0.4633;PC=0.992;Gene=TMEM43/NM_024334.2/1;CC=c.536T>C;ProtCh=p.M179T;VC=Missense;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:41:0:0:32,28:987,916:95.85,0.00:38.74,0.00:57.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.3,10.9:0,0:0,0:78,71:66,77:20,29:NM_024334.2(TMEM43) c.536T>C (p.Met179Thr),-:0.46,-:0.332769,- 3 14175310 . G . . NT END=14176269;NT GT ./. 3 14176392 . G . . NT END=14176657;NT GT ./. 3 14176446 rs6766740 G A 86 nt VT=SNV;PN=G;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.6492,A/0.3508;Gene=TMEM43/NM_024334.2/1;CC=c.705+55G>A;VC=Intron;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:26:0:0:27,29:897,937:85.75,0.00:29.13,0.00:56.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,11.0:0,0:0,0:106,98:44,52:21,29:NM_024334.2(TMEM43) c.705+55G>A,-:0.33,-:NOT_FOUND,- 3 14176733 . G . . NT END=14177306;NT GT ./. 3 14177194 rs2607765 T C 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.2542,C/0.7458;Gene=TMEM43/NM_024334.2/1;CC=c.781-113T>C;VC=Intron;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:13,12:440,359:42.69,0.00:42.69,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:72.1,8.7:0,0:0,0:71,48:79,101:44,30:NM_024334.2(TMEM43) c.781-113T>C,-:0.72,-:NOT_FOUND,- 3 14177251 rs3796311 G A 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.7981,A/0.2019;Gene=TMEM43/NM_024334.2/1;CC=c.781-56G>A;VC=Intron;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:41:37:0:0:19,1,21:623,11,567:59.41,0.04,0.00:47.30,0.07,0.00:12.11,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:58.7,59.0,8.1:0,0,0:0,0,0:43,79,37:107,72,114:30,0,27:NM_024334.2(TMEM43) c.781-56G>A,-:0.18,-:NOT_FOUND,- 3 14177409 . G . . NT END=14180679;NT GT ./. 3 14180552 rs2607767 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2927,G/0.7073;Gene=TMEM43/NM_024334.2/1;CC=c.883-128A>G;VC=Intron;DM=TMEM43/DUF1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,G:12:12:0:0:6,6:198,165:0.00,15.65:0.00,15.65:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:16.3,36.0:0,0:0,0:47,48:102,103:23,10:-,NM_024334.2(TMEM43) c.883-128A>G:-,0.69:-,NOT_FOUND 3 14180798 . G . . NT END=14183092;NT GT ./. 3 14183296 . A . . NT END=14187440;NT GT ./. 3 14183410 rs1043943 T C 69 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.3109,C/0.6891;Gene=TMEM43/NM_024334.2/1;CC=c.*115T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:1:0:0:22,11:674,361:68.69,0.00:-0.24,0.00:68.93,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:36.6,12.1:0,0:0,0:103,76:46,75:19,18:NM_024334.2(TMEM43) c.*115T>C,-:0.66,-:NOT_FOUND,- 3 14187449 rs2228001 G T 153 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.3153,T/0.6847;PC=1.000;Gene=XPC/NM_004628.4/1;CC=c.2815C>A;ProtCh=p.Q939K;VC=Missense;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:118:103:0:0:2,66,50:38,2282,1637:1.03,0.00,153.11:0.88,0.00,105.34:0.15,0.00,47.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:69.5,6.3,39.7:0,0,0:0,0,0:39,48,58:111,96,86:27,24,26:-,NM_004628.4(XPC) c.2815C>A (p.Gln939Lys):-,0.66:-,0.642062 3 14187660 . C . . NT END=14188789;NT GT ./. 3 14187699 rs2733532 T C 83 nt VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.3057,C/0.6943;Gene=XPC/NM_004628.4/1;CC=c.2605-40A>G;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:23:0:0:27,42:905,1264:83.34,0.00:15.75,0.00:67.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.9,6.6:0,0:0,0:121,115:29,34:21,21:NM_004628.4(XPC) c.2605-40A>G,-:0.67,-:0.654883,- 3 14187710 rs3731175 T C 64 nt VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.7528,C/0.2472;Gene=XPC/NM_004628.4/1;CC=c.2605-51A>G;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:19:0:0:21,34:702,1043:64.34,0.00:15.28,0.00:49.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.3,7.5:0,0:0,0:103,121:43,30:35,19:NM_004628.4(XPC) c.2605-51A>G,-:0.22,-:0.271035,- 3 14188700 rs2733533 C A 55 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.6711,A/0.3289;Gene=XPC/NM_004628.4/1;CC=c.2604+90G>T;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:52:51:0:0:20,32:610,1067:55.48,0.00:52.18,0.00:3.30,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:59.5,2.7:0,0:0,0:60,56:90,95:36,30:NM_004628.4(XPC) c.2604+90G>T,-:0.33,-:NOT_FOUND,- 3 14188762 rs2733534 G C 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=G/0.6721,C/0.3279;Gene=XPC/NM_004628.4/1;CC=c.2604+28C>G;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:92:73:0:0:40,52:1379,1763:129.63,0.00:85.08,0.00:44.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.0,2.9:0,0:0,0:46,52:101,98:31,32:NM_004628.4(XPC) c.2604+28C>G,-:0.33,-:0.427203,- 3 14188880 . C . . NT END=14189407;NT GT ./. 3 14189147 rs2257984 A G 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3129,G/0.6871;Gene=XPC/NM_004628.4/1;CC=c.2514+261T>C;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:0:0:0:1,4:33,127:0.00,13.52:0.00,0.00:0.00,13.52:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,43.5:0,0:0,0:112,123:38,26:0,13:-,NM_004628.4(XPC) c.2514+261T>C:-,0.66:-,NOT_FOUND 3 14189340 rs2607749 A G 53 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.632,G/0.368;PC=0.005;Gene=XPC/NM_004628.4/1;CC=c.2514+68T>C;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:32:0:0:16,17:504,549:0.00,53.09:0.00,43.26:0.00,9.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,49.4:0,0:0,0:58,24:93,127:48,21:-,NM_004628.4(XPC) c.2514+68T>C:-,0.35:-,NOT_FOUND 3 14189502 . C . . NT END=14190061;NT GT ./. 3 14190232 . C . . NT END=14190313;NT GT ./. 3 14190237 rs2279017 T G 332 nt VT=SNV;PN=G;NN=C;SST=Single;DP=196;DB;DBA=NA;PAF=T/0.3203,G/0.6797;Gene=XPC/NM_004628.4/1;CC=c.2251-6A>C;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:196:132:0:0:102,94:3427,2913:332.38,0.00:167.85,0.00:164.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.5,8.9:0,0:0,0:80,69:60,77:40,33:NM_004628.4(XPC) c.2251-6A>C,-:0.66,-:0.635344,- 3 14190268 rs2470353 G C 296 nt VT=SNV;PN=G;NN=G;SST=Single;DP=194;DB;DBA=NA;PAF=G/0.6721,A/.,C/0.3279,T/.;Gene=XPC/NM_004628.4/1;CC=c.2251-37C>G;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:194:131:0:0:96,97,1:3081,3031,12:295.64,0.00,-0.13:159.63,0.00,-0.11:136.01,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.9,7.2,118.0:0,0,0:0,0,0:95,73,21:51,73,130:36,39,0:NM_004628.4(XPC) c.2251-37C>G,-:0.33,-:0.426879,- 3 14190449 . C . . NT END=14193834;NT GT ./. 3 14190589 rs111520695 CT C 6 rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=2;Gene=XPC/NM_004628.4/1;CC=c.2116-142delA;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding;DM=XPC/BHD_2;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CT,I,C:40:3:2:3:35,2,3:1177,63,96:0.00,3.88,6.47:0.00,-0.04,-0.07:0.00,3.92,6.54:0.00,0.00,0.37:0.00,0.00,0.27:0.00,0.00,0.86:60,60,60:7.3,0.0,0.0:0,0,0:0,0,0:121,53,120:30,97,29:23,4,12:-,NM_004628.4(XPC) c.2116-142delA:-,NOT_FOUND:-,NOT_FOUND 3 14193889 rs2227998 C T 86 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.7646,G/.,T/0.2354;PC=0.996;Gene=XPC/NM_004628.4/1;CC=c.2061G>A;ProtCh=p.R687=;VC=Silent;Gene=XPC/NR_027299.1/0;VC=NonCoding;DM=XPC/BHD_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:53:0:0:40,29:1250,926:0.00,86.02:0.00,45.07:0.00,40.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,41.9:0,0:0,0:82,83:54,57:32,30:-,NM_004628.4(XPC) c.2061G>A (p.(=)):-,0.22:-,0.265829 3 14193917 . C . . NT END=14197834;NT GT ./. 3 14194094 rs3731149 T G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8033,G/0.1967;Gene=XPC/NM_004628.4/1;CC=c.2034-178A>C;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding;DM=XPC/BHD_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:103:A,G,T:13:0:0:0:1,4,8:11,110,260:0.28,9.57,0.00:0.00,0.00,0.00:0.28,9.57,0.00:0.00,0.79,0.00:0.00,0.00,0.00:0.00,0.79,0.00:60,60,60:130.0,44.0,6.2:0,0,0:0,0,0:107,80,118:44,69,32:0,14,18:NM_004628.4(XPC) c.2034-178A>C,-:0.18,-:NOT_FOUND,- 3 14197987 rs2958057 A T 320 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=3473;Gene=XPC/NM_004628.4/1;CC=c.1881T>A;ProtCh=p.A627=;VC=Silent;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:85:56:0:0:85:2798:320.24:127.17:193.07:1.00:1.00:1.00:60:38.4:0:0:77:64:28:NM_004628.4(XPC) c.=,NM_004628.4(XPC) c.=:1,1:NOT_FOUND,NOT_FOUND 3 14197996 . C . . NT END=14199510;NT GT ./. 3 14200393 . C . . NT END=14201240;NT GT ./. 3 14201331 . C . . NT END=14206312;NT GT ./. 3 14201400 rs3731124 T G 42 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.8472,G/0.1528;PC=0.002;Gene=XPC/NM_004628.4/1;CC=c.901-70A>C;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:34:6:0:0:15,19:446,639:41.59,0.00:2.86,0.00:38.73,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:43.3,8.5:0,0:0,0:121,60:30,91:17,29:NM_004628.4(XPC) c.901-70A>C,-:0.14,-:NOT_FOUND,- 3 14206434 . C . . NT END=14206927;NT GT ./. 3 14207086 . C . . NT END=14208668;NT GT ./. 3 14208625 rs3729587 G C 46 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.6444,C/0.3556;Gene=XPC/NM_004628.4/1;CC=c.621+44C>G;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:45:41:0:0:15,30:516,1026:46.32,0.00:33.69,0.00:12.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,4.8:0,0:0,0:49,48:102,102:17,32:NM_004628.4(XPC) c.621+44C>G,-:0.34,-:0.334038,- 3 14208754 . C . . NT END=14209756;NT GT ./. 3 14209881 . C . . NT END=14211937;NT GT ./. 3 14211865 rs3731081 C A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.8027,A/0.1973;Gene=XPC/NM_004628.4/1;CC=c.412+73G>T;VC=Intron;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:20:20:0:0:7,13:228,439:20.52,0.00:18.95,0.00:1.57,0.00:0.97,0.00:0.97,0.00:0.65,0.00:60,60:41.3,2.3:0,0:0,0:44,43:107,108:21,16:NM_004628.4(XPC) c.412+73G>T,-:0.18,-:NOT_FOUND,- 3 14212051 . C . . NT END=14214366;NT GT ./. 3 14214563 . C . . NT END=14219965;NT GT ./. 3 14220069 . G . . NT END=14220360;NT GT ./. 3 14220095 rs2607775 C G 252 nt VT=SNV;PN=T;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.6721,G/0.3279;Gene=XPC/NM_004628.4/1;CC=c.-27G>C;VC=5UTR;Gene=XPC/NR_027299.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:130:77:0:0:54,76:1713,2545:0.00,252.49:0.00,106.88:0.00,145.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,41.1:0,0:0,0:95,99:53,50:19,23:-,NM_004628.4(XPC) c.-27G>C:-,0.33:-,0.434683 3 14220382 . G . . NT END=14223059;NT GT ./. 3 14223171 . G . . NT END=14225436;NT GT ./. 3 14225533 . G . . NT END=14239535;NT GT ./. 3 14239617 . A . . NT END=14485142;NT GT ./. 3 14296437 rs59625485 G T 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6679,T/0.3321;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,T:4:4:0:0:1,3:36,101:0.00,10.55:0.00,5.28:0.00,5.28:0.00,0.85:0.00,0.85:0.00,0.85:60,60:97.0,68.0:0,0:0,0:132,102:19,36:0,1:-,chr3 g.14296436G>T (intergenic):-,0.33:-,NOT_FOUND 3 14296450 rs11928073 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=127;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:139:15.81:7.90:7.90:1.00:1.00:1.00:60:75.8:0:0:115:16:13:chr3 g.14296449A>G (intergenic),chr3 g.14296449A>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 3 14338433 rs57360422 CGT C 10 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=89;PC=0.007;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:CGT,C:4:6:0:5:1,3:20,151:0.00,9.93:0.00,8.89:0.00,1.04:0.00,0.73:0.00,0.73:0.00,0.89:60,60:43.0,54.0:0,2:0,0:70,29:75,121:0,9:-,chr3 g.14338434_14338435delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 14485372 . G . . NT END=14487224;NT GT ./. 3 14485484 rs36107877 C A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6959,A/0.3041,G/.,T/.;PC=0.001;Gene=SLC6A6/NM_001134368.3/0;CC=c.229+113C>A;VC=Intron;Gene=SLC6A6/NM_001134367.3/1;CC=c.532+113C>A;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.229+113C>A;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:A,C:18:0:0:0:11,7:311,195:31.08,0.00:0.00,0.00:31.08,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.7,14.7:0,0:0,0:104,54:47,97:28,31:NM_003043.3(SLC6A6) c.229+113C>A,-:0.29,-:NOT_FOUND,- 3 14486950 rs71038410 AAAAG A 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AAAAG/0.4523,A/0.5477;DB;DBA=NA;PAF=AAAAG/0.4523,A/0.5477;DB;DBA=NA;PAF=AAAAG/0.4523,A/0.5477;NP=158;PC=0.073;Gene=SLC6A6/NM_001134368.3/0;CC=c.230-255_230-252delGAAA;VC=Intron;Gene=SLC6A6/NM_001134367.3/1;CC=c.533-255_533-252delGAAA;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.230-255_230-252delGAAA;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AAAAG,A:5:5:0:3:2,3:64,89:0.00,8.87:0.00,8.87:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,48.0:0,0:0,0:10,28:140,121:1,17:-,NM_003043.3(SLC6A6) c.230-274_230-271delAAAG:-,0.51:-,NOT_FOUND 3 14487360 . G . . NT END=14489089;NT GT ./. 3 14489694 rs6765627 A G 42 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.6418,G/0.3582;PC=0.767;Gene=SLC6A6/NM_001134367.3/1;CC=c.902+370A>G;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.599+370A>G;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:12:0:0:16,13:501,444:0.00,41.96:0.00,5.23:0.00,36.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.7,37.9:0,0:0,0:97,108:43,43:24,31:-,NM_003043.3(SLC6A6) c.599+370A>G:-,0.34:-,NOT_FOUND 3 14489697 . T . . NT END=14499457;NT GT ./. 3 14499591 . G . . NT END=14508023;NT GT ./. 3 14507773 . TAAAA T,TAAAAA 6 idl,nt VT=DEL;SST=Single;DP=5;PC=0.001;DM=SLC6A6/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:20:TAAAA,TAAAAA,T:4:5:1:3:1,1,2:11,32,93:0.00,2.88,6.35:0.00,2.88,6.35:0.00,0.00,0.00:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.00:60,60,60:85.0,0.0,88.5:0,0,1:0,0,0:148,11,44:2,140,107:0,0,27:NM_003043.3(SLC6A6) c.733-250_733-247delAAAA,NM_003043.3(SLC6A6) c.733-247dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 14508159 . G . . NT END=14509360;NT GT ./. 3 14509465 . G . . NT END=14509595;NT GT ./. 3 14509721 . G . . NT END=14513712;NT GT ./. 3 14509887 rs55719538 C CA 27 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=450;Gene=SLC6A6/NM_001134367.3/1;CC=c.1399+170dupA;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1096+170dupA;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,CA:9:0:8:0:1,8:31,250:0.00,27.45:0.00,0.00:0.00,27.45:0.00,1.00:0.00,0.00:0.00,1.00:60,60:82.0,46.0:0,0:0,0:147,100:4,50:0,29:-,NM_003043.3(SLC6A6) c.1096+167_1096+168insA:-,1:-,NOT_FOUND 3 14509909 rs7620520 G T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=519;Gene=SLC6A6/NM_001134367.3/1;CC=c.1399+189G>T;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1096+189G>T;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:72.2:0:0:105:46:19:NM_003043.3(SLC6A6) c.1096+189G>T,NM_003043.3(SLC6A6) c.1096+189G>T:1,1:NOT_FOUND,NOT_FOUND 3 14509925 rs55813930 CT C 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=164;PC=0.002;Gene=SLC6A6/NM_001134367.3/1;CC=c.1399+206delT;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1096+206delT;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:66.2:0:0:111:39:12:NM_003043.3(SLC6A6) c.1096+206delT,NM_003043.3(SLC6A6) c.1096+206delT:1,1:NOT_FOUND,NOT_FOUND 3 14509929 rs56051894 T G 18 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.011;Gene=SLC6A6/NM_001134367.3/1;CC=c.1399+209T>G;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1096+209T>G;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:158:18.18:0.00:18.18:1.00:0.00:1.00:60:58.4:4:0:105:46:24:NM_003043.3(SLC6A6) c.1096+209T>G,NM_003043.3(SLC6A6) c.1096+209T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 14513826 . G . . NT END=14518712;NT GT ./. 3 14518851 . G . . NT END=14519973;NT GT ./. 3 14519885 rs2241781 A T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6022,T/0.3978;PC=0.001;Gene=SLC6A6/NM_001134367.3/1;CC=c.1651-89A>T;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1348-89A>T;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;DM=SLC6A6/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:16:16:0:0:8,8:253,263:0.00,25.30:0.00,21.77:0.00,3.53:0.00,1.00:0.00,1.00:0.00,0.79:60,60:10.9,35.2:0,0:0,0:62,65:87,85:43,52:-,NM_003043.3(SLC6A6) c.1348-89A>T:-,0.35:-,NOT_FOUND 3 14520077 . G . . NT END=14520592;NT GT ./. 3 14520164 rs2241780 A G 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5735,G/0.4265;PC=0.003;Gene=SLC6A6/NM_001134367.3/1;CC=c.1753+88A>G;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1450+88A>G;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G:10:4:0:0:4,6:130,175:0.00,17.38:0.00,4.16:0.00,13.23:0.00,0.99:0.00,0.97:0.00,1.00:60,60:19.0,38.0:0,0:0,0:21,97:129,54:9,24:-,NM_003043.3(SLC6A6) c.1450+88A>G:-,0.39:-,NOT_FOUND 3 14520286 rs1469878 T A 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.001597,A/0.9984;Gene=SLC6A6/NM_001134367.3/1;CC=c.1753+210T>A;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1450+210T>A;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:3:0:0:8:228:26.57:9.09:17.48:1.00:1.00:1.00:60:36.1:0:0:76:75:38:NM_003043.3(SLC6A6) c.1450+210T>A,NM_003043.3(SLC6A6) c.1450+210T>A:1,1:NOT_FOUND,NOT_FOUND 3 14520560 rs2304510 G C 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7602,C/0.2398;Gene=SLC6A6/NM_001134367.3/1;CC=c.1754-33G>C;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1451-33G>C;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:34:0:0:17,22:590,715:55.52,0.00:38.28,0.00:17.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,3.7:0,0:0,0:45,31:106,113:31,26:NM_003043.3(SLC6A6) c.1451-33G>C,-:0.21,-:0.170998,- 3 14520694 . G . . NT END=14523178;NT GT ./. 3 14520848 rs145595809 C T 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9912,T/0.008786;NP=26;Gene=SLC6A6/NM_001134367.3/1;CC=c.1854+155C>T;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1551+155C>T;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:C,T:7:0:0:0:2,5:62,145:0.00,15.03:0.00,0.00:0.00,15.03:0.00,0.98:0.00,0.00:0.00,0.98:60,60:20.5,45.6:0,0:0,0:101,90:50,61:26,26:-,NM_003043.3(SLC6A6) c.1551+155C>T:-,0.01:-,NOT_FOUND 3 14523350 . G . . NT END=14526374;NT GT ./. 3 14523497 rs2304509 C G 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.5787,G/0.4213;PC=0.005;Gene=SLC6A6/NM_001134367.3/1;CC=c.2025+148C>G;VC=Intron;Gene=SLC6A6/NM_003043.5/0;CC=c.1722+148C>G;VC=Intron;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,G,T:15:0:0:0:5,9,1:163,315,6:0.00,31.81,0.03:0.00,0.00,0.00:0.00,31.81,0.03:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:2.6,37.4,89.0:0,0,0:0,0,0:104,91,59:47,60,92:4,18,0:-,NM_003043.3(SLC6A6) c.1722+148C>G:-,0.38:-,NOT_FOUND 3 14526516 . G . . NT END=14535172;NT GT ./. 3 14526538 rs1062540 G A 215 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=G/0.7578,A/0.2422;PC=1.000;Gene=SLC6A6/NM_001134367.3/1;CC=c.*23G>A;VC=3UTR;Gene=SLC6A6/NM_003043.5/0;CC=c.*23G>A;VC=3UTR;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A:57:22:0:0:57:1884:215.50:56.82:158.68:1.00:1.00:1.00:60:39.8:0:0:107:43:24:NM_003043.3(SLC6A6) c.*23G>A,NM_003043.3(SLC6A6) c.*23G>A:0.31,0.31:0.374443,0.374443 3 14526612 rs35363110 AT A 53 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=AT/0.6202,A/0.3798;NP=194;PC=0.998;Gene=SLC6A6/NM_001134367.3/1;CC=c.*110delT;VC=3UTR;Gene=SLC6A6/NM_003043.5/0;CC=c.*110delT;VC=3UTR;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:AT,A:24:2:0:20:7,17:194,579:0.00,52.99:0.00,2.86:0.00,50.13:0.00,1.00:0.00,0.90:0.00,1.00:60,60:47.3,48.5:0,2:0,0:136,100:12,51:9,27:-,NM_003043.3(SLC6A6) c.*98T[12]:-,NOT_FOUND:-,NOT_FOUND 3 14526656 rs1126666 A G 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.6536,G/0.3464;PC=0.655;Gene=SLC6A6/NM_001134367.3/1;CC=c.*141A>G;VC=3UTR;Gene=SLC6A6/NM_003043.5/0;CC=c.*141A>G;VC=3UTR;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:0:0:0:12:399:45.62:0.00:45.62:1.00:0.00:1.00:60:54.0:0:0:100:50:33:NM_003043.3(SLC6A6) c.*141A>G,NM_003043.3(SLC6A6) c.*141A>G:0.4,0.4:NOT_FOUND,NOT_FOUND 3 14526748 rs79900815 A C 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.9834,C/0.01657;PC=0.991;Gene=SLC6A6/NM_001134367.3/1;CC=c.*233A>C;VC=3UTR;Gene=SLC6A6/NM_003043.5/0;CC=c.*233A>C;VC=3UTR;Gene=SLC6A6/NR_103507.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,C:5:0:0:0:2,3:40,83:0.00,8.31:0.00,0.00:0.00,8.31:0.00,0.78:0.00,0.00:0.00,0.78:60,60:46.0,56.7:0,0:0,0:112,20:38,131:26,13:-,NM_003043.3(SLC6A6) c.*233A>C:-,0.02:-,NOT_FOUND 3 14535335 . C . . NT END=14536350;NT GT ./. 3 14536202 rs4685167 G C 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4006,C/0.5994;PC=0.001;Gene=GRIP2/NM_001080423.3/1;CC=c.2969+149C>G;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:20:0:0:9,11:305,350:28.82,0.00:28.82,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.9,2.7:0,0:0,0:43,30:107,121:29,11:NM_001080423.2(GRIP2) c.3261+149C>G,-:0.58,-:NOT_FOUND,- 3 14536498 . C . . NT END=14537924;NT GT ./. 3 14537867 rs11918344 A G 71 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.3001,G/0.6999;Gene=GRIP2/NM_001080423.3/1;CC=c.2822+58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:57:0:0:33,26:1023,761:0.00,70.92:0.00,61.39:0.00,9.53:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.9,33.3:0,0:0,0:52,39:98,112:34,29:-,NM_001080423.2(GRIP2) c.3114+58T>C:-,0.66:-,NOT_FOUND 3 14538069 . C . . NT END=14545073;NT GT ./. 3 14538072 rs11333211 CA C 227 nt VT=DEL;SST=Single;DP=155;DB;DBA=NA;PAF=CA/0.4181,C/0.5819;NP=2072;PC=0.003;Gene=GRIP2/NM_001080423.3/1;CC=c.2679-5delT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:155:93:0:72:83,72:2681,2392:0.00,227.11:0.00,96.12:0.00,130.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,3.2:0,0:0,0:101,79:48,65:33,35:-,NM_001080423.2(GRIP2) c.2971-5delT:-,0.54:-,0.460215 3 14538339 rs7638680 A C 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3405,C/0.6595;Gene=GRIP2/NM_001080423.3/1;CC=c.2679-271T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:218:25.13:0.00:25.13:1.00:0.00:1.00:60:58.1:0:0:128:23:19:NM_001080423.2(GRIP2) c.2971-271T>G,NM_001080423.2(GRIP2) c.2971-271T>G:0.63,0.63:NOT_FOUND,NOT_FOUND 3 14545054 rs375991664 T C 67 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.9994,C/0.000599;NP=6;Gene=GRIP2/NM_001080423.3/1;CC=c.2678+20A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:49:44:0:0:23,26:703,859:66.55,0.00:39.16,0.00:27.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.6,0.3:0,0:0,0:54,40:96,102:25,29:NM_001080423.2(GRIP2) c.2970+20A>G,-:NOT_FOUND,-:0.001905,- 3 14545180 . C . . NT END=14547122;NT GT ./. 3 14547298 . C . . NT END=14548308;NT GT ./. 3 14548208 rs2276756 G A 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.5457,A/0.4543;Gene=GRIP2/NM_001080423.3/1;CC=c.2397+101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:35:0:0:22,15:740,461:73.65,0.00:68.61,0.00:5.03,0.00:1.00,0.00:1.00,0.00:0.94,0.00:60,60:43.2,9.4:0,0:0,0:32,29:119,122:17,15:NM_001080423.2(GRIP2) c.2689+101C>T,-:0.45,-:NOT_FOUND,- 3 14548489 . C . . NT END=14549068;NT GT ./. 3 14548494 rs2276755 A G 80 nt VT=SNV;PN=G;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.5447,G/0.4553;PC=0.002;Gene=GRIP2/NM_001080423.3/1;CC=c.2218-6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:63:32:0:0:36,27:1157,858:0.00,79.99:0.00,14.99:0.00,64.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.6,37.3:0,0:0,0:76,125:74,26:25,14:-,NM_001080423.2(GRIP2) c.2510-6T>C:-,0.45:-,0.339486 3 14549209 . C . . NT END=14551327;NT GT ./. 3 14551444 rs9845816 A G 186 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.2899,G/0.7101;PC=1.000;Gene=GRIP2/NM_001080423.3/1;CC=c.1961T>C;ProtCh=p.V654A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:112:65:0:0:54,58:1702,1926:0.00,186.49:0.00,78.34:0.00,108.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,43.3:0,0:0,0:70,81:73,63:42,36:-,NM_001080423.2(GRIP2) c.2253T>C (p.(=)):-,0.66:-,0.601771 3 14551473 . C . . NT END=14552672;NT GT ./. 3 14552819 . C . . NT END=14552920;NT GT ./. 3 14552988 . C . . NT END=14554284;NT GT ./. 3 14552994 rs4685168 A G 290 nt VT=SNV;PN=G;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.1885,G/0.8115;PC=0.001;Gene=GRIP2/NM_001080423.3/1;CC=c.1720-7T>C;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:38:0:0:78:2528:289.88:85.38:204.50:1.00:1.00:1.00:60:37.2:0:0:89:56:31:NM_001080423.2(GRIP2) c.2012-7T>C,NM_001080423.2(GRIP2) c.2012-7T>C:0.79,0.79:0.770348,0.770348 3 14554366 . C . . NT END=14555172;NT GT ./. 3 14554476 rs4516597 T C 29 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3674,C/0.6326;Gene=GRIP2/NM_001080423.3/1;CC=c.1639-111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:114:C,T:13:1:0:0:9,4:278,123:28.61,0.00:2.82,0.00:25.79,0.00:1.00,0.00:0.79,0.00:1.00,0.00:60,60:37.3,5.2:0,0:0,0:127,95:22,55:12,5:NM_001080423.2(GRIP2) c.1931-111A>G,-:0.61,-:NOT_FOUND,- 3 14554608 rs11128703 C T 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5262,T/0.4738;Gene=GRIP2/NM_001080423.3/1;CC=c.1639-243G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:0:0:0:3,2:84,70:0.00,6.49:0.00,0.00:0.00,6.49:0.00,0.46:0.00,0.00:0.00,0.46:60,60:15.7,35.0:0,0:0,0:104,87:47,63:17,25:-,NM_001080423.2(GRIP2) c.1931-243G>A:-,0.46:-,NOT_FOUND 3 14555009 rs4685170 C T 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.5266,T/0.4734;Gene=GRIP2/NM_001080423.3/1;CC=c.1638+164G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:28:0:0:12,16:386,499:0.00,49.19:0.00,49.19:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.9,51.8:0,0:0,0:54,48:94,101:32,40:-,NM_001080423.2(GRIP2) c.1930+164G>A:-,0.46:-,NOT_FOUND 3 14555216 rs4685171 T C 272 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=166;DB;DBA=NA;PAF=T/0.3393,C/0.6607;Gene=GRIP2/NM_001080423.3/1;CC=c.1595A>G;ProtCh=p.H532R;VC=Missense;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:166:126:0:0:86,1,79:2804,10,2482:271.71,-0.14,0.00:163.83,-0.04,0.00:107.87,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,10.0,9.3:0,0,0:0,0,0:70,6,76:77,144,70:32,0,28:NM_001080423.2(GRIP2) c.1887A>G (p.(=)),-:0.64,-:0.564858,- 3 14555319 . C . . NT END=14555799;NT GT ./. 3 14555367 rs4685172 T C 200 nt VT=SNV;PN=A;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=T/0.5531,A/.,C/0.4469;Gene=GRIP2/NM_001080423.3/1;CC=c.1493-49A>G;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:101:43:0:0:60,41:2014,1297:200.39,0.00:64.84,0.00:135.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:76.3,5.4:0,0:0,0:95,108:54,33:28,26:NM_001080423.2(GRIP2) c.1785-49A>G,-:0.43,-:0.358603,- 3 14555409 rs28520469 T C 109 nt VT=SNV;PN=G;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.4231,C/0.5769;Gene=GRIP2/NM_001080423.3/1;CC=c.1493-91A>G;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:18:0:0:34,27:1110,881:109.03,0.00:28.63,0.00:80.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:105.3,9.9:0,0:0,0:111,75:37,76:21,46:NM_001080423.2(GRIP2) c.1785-91A>G,-:0.56,-:NOT_FOUND,- 3 14555411 rs28462294 A C 105 nt VT=SNV;PN=C;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.3566,C/0.6434;Gene=GRIP2/NM_001080423.3/1;CC=c.1493-93T>G;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:62:18:0:0:27,35:831,1067:0.00,104.88:0.00,29.74:0.00,75.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,105.5:0,0:0,0:85,114:66,33:44,18:-,NM_001080423.2(GRIP2) c.1785-93T>G:-,0.63:-,NOT_FOUND 3 14555739 rs4361268 G A 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.527,A/0.473;Gene=GRIP2/NM_001080423.3/1;CC=c.1492+61C>T;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:52:49:0:0:21,31:604,1017:55.15,0.00:51.17,0.00:3.99,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:49.7,10.3:0,0:0,0:40,52:100,97:36,36:NM_001080423.2(GRIP2) c.1784+61C>T,-:0.46,-:NOT_FOUND,- 3 14555758 rs201600571 C CAGTT 61 nt VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.3391,CAGTT/0.6609;DB;DBA=NA;PAF=NA;NP=6;PC=0.001;Gene=GRIP2/NM_001080423.3/1;CC=c.1492+41_1492+42insAACT;VC=Intron;DM=GRIP2/PDZ;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAGTT:63:60:21:0:42,21:1386,680:0.00,60.60:0.00,55.01:0.00,5.59:0.00,1.00:0.00,1.00:0.00,0.99:60,60:12.2,51.7:0,0:0,0:54,29:96,113:40,14:-,NM_001080423.2(GRIP2) c.1784+41_1784+42insAACT:-,0.64:-,0.507603 3 14555811 rs4613440 A G 146 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.3383,G/0.6617;PC=1.000;Gene=GRIP2/NM_001080423.3/1;CC=c.1481T>C;ProtCh=p.V494A;VC=Missense;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:99:88:0:0:52,47:1650,1537:0.00,146.38:0.00,104.89:0.00,41.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,43.8:0,0:0,0:57,55:86,89:33,18:-,NM_001080423.2(GRIP2) c.1773T>C (p.(=)):-,0.64:-,0.551622 3 14555987 . C . . NT END=14558571;NT GT ./. 3 14556175 rs4684228 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5276,A/0.4724;Gene=GRIP2/NM_001080423.3/1;CC=c.1306-189C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:0:0:0:8,10:242,297:22.65,0.00:0.00,0.00:22.65,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:79.2,10.2:0,0:0,0:85,108:62,37:13,27:NM_001080423.2(GRIP2) c.1598-189C>T,-:0.46,-:NOT_FOUND,- 3 14556198 rs4684229 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.4149,A/.,C/0.5851,G/.;Gene=GRIP2/NM_001080423.3/1;CC=c.1306-212A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:C,T:14:0:0:0:7,7:161,205:15.12,0.00:0.00,0.00:15.12,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:85.9,14.6:0,0:0,0:105,92:46,59:12,43:NM_001080423.2(GRIP2) c.1598-212A>G,-:0.56,-:NOT_FOUND,- 3 14558722 . C . . NT END=14559279;NT GT ./. 3 14559406 . C . . NT END=14561613;NT GT ./. 3 14561389 rs78739595 T TG 22 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=132;PC=0.003;Gene=GRIP2/NM_001080423.3/1;CC=c.1029+228dupC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TG:6:6:6:0:6:190:21.86:21.86:0.00:1.00:1.00:0.00:60:8.0:0:0:24:127:12:NM_001080423.2(GRIP2) c.1321+228_1321+229insC,NM_001080423.2(GRIP2) c.1321+228_1321+229insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 14561627 rs5846840 A AG 311 PASS VT=INS;SST=Single;DP=91;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3150;PC=1.000;Gene=GRIP2/NM_001080423.3/1;CC=c.1019dupC;ProtCh=p.Q341Sfs*704;VC=FrameShiftIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:A,AG:91:80:87:0:4,87:94,2760:0.00,310.52:0.00,208.07:0.00,102.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.2,6.1:3,0:0,0:119,49:31,96:23,28:NM_001080423.2(GRIP2) c.1311dupC (p.Ser438Leufs*10),NM_001080423.2(GRIP2) c.1311dupC (p.Ser438Leufs*10):1,1:0.999189,0.999189 3 14561787 . C . . NT END=14561896;NT GT ./. 3 14562045 . C . . NT END=14563148;NT GT ./. 3 14563258 rs4234526 A G 167 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.5525,G/0.4475;PC=0.997;Gene=GRIP2/NM_001080423.3/1;CC=c.603T>C;ProtCh=p.S201=;VC=Silent;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:61:0:0:52,52:1673,1731:0.00,166.57:0.00,59.16:0.00,107.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,37.1:0,0:0,0:87,71:57,79:29,33:-,NM_001080423.2(GRIP2) c.894T>C (p.(=)):-,0.43:-,0.344767 3 14563295 . C . . NT END=14564506;NT GT ./. 3 14564583 . C . . NT END=14565118;NT GT ./. 3 14565017 rs4685173 G A 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5497,A/0.4503;PC=0.029;Gene=GRIP2/NM_001080423.3/1;CC=c.490+102C>T;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:11,11:352,358:33.84,0.00:32.30,0.00:1.54,0.00:1.00,0.00:1.00,0.00:0.79,0.00:60,60:41.1,1.1:0,0:0,0:27,36:124,114:15,14:NM_001080423.2(GRIP2) c.781+102C>T,-:0.43,-:NOT_FOUND,- 3 14565206 . C . . NT END=14565899;NT GT ./. 3 14565357 rs4685174 G A 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5497,A/0.4503;PC=0.010;Gene=GRIP2/NM_001080423.3/1;CC=c.404-152C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:0:0:0:8,8:249,240:23.88,0.00:0.00,0.00:23.88,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:51.6,12.8:0,0:0,0:104,108:45,43:35,23:NM_001080423.2(GRIP2) c.695-152C>T,-:0.43,-:NOT_FOUND,- 3 14566046 . C . . NT END=14566943;NT GT ./. 3 14566377 rs13066486 T G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5499,G/0.4501;Gene=GRIP2/NM_001080423.3/1;CC=c.258-332A>C;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:G,T:4:0:0:0:2,2:70,57:6.75,0.00:0.00,0.00:6.75,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:35.0,40.0:0,0:0,0:127,15:23,135:9,3:NM_001080423.2(GRIP2) c.549-332A>C,-:0.43,-:NOT_FOUND,- 3 14566622 rs35904107 G A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8343,A/0.1657;PC=0.002;Gene=GRIP2/NM_001080423.3/1;CC=c.257+322C>T;VC=Intron;DM=GRIP2/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:5:5:0:0:4,1:130,36:13.82,0.00:13.82,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:95.0,31.0:0,0:0,0:10,106:135,44:4,0:NM_001080423.2(GRIP2) c.548+322C>T,-:0.16,-:NOT_FOUND,- 3 14567080 . C . . NT END=14567357;NT GT ./. 3 14567439 . C . . NT END=14581775;NT GT ./. 3 14567627 rs7613925 G C 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.862,C/0.138;PC=0.003;Gene=GRIP2/NM_001080423.3/1;CC=c.41-189C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:C,G:13:0:0:0:5,8:156,279:14.22,0.00:0.00,0.00:14.22,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:46.8,56.0:0,0:0,0:127,74:22,76:5,32:NM_001080423.2(GRIP2) c.332-189C>G,-:0.13,-:NOT_FOUND,- 3 14567666 rs4684230 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.387,T/0.613;Gene=GRIP2/NM_001080423.3/1;CC=c.41-228G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:T:7:0:0:0:7:171:20.31:0.00:20.31:1.00:0.00:1.00:60:68.7:0:0:109:42:11:NM_001080423.2(GRIP2) c.332-228G>A,NM_001080423.2(GRIP2) c.332-228G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 3 14567685 rs4685175 C T 17 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5577,T/0.4423;Gene=GRIP2/NM_001080423.3/1;CC=c.41-247G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,T:6:0:0:0:1,5:32,159:0.00,17.11:0.00,0.00:0.00,17.11:0.00,0.99:0.00,0.00:0.00,0.99:60,60:67.0,64.6:0,0:0,0:139,119:12,30:0,17:-,NM_001080423.2(GRIP2) c.332-247G>A:-,0.43:-,NOT_FOUND 3 14581594 rs6442461 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6428,G/0.3572;Gene=GRIP2/NM_001080423.3/1;CC=c.40+182T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:A,G:16:16:0:0:9,7:285,176:0.00,16.17:0.00,16.17:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:25.6,39.9:0,0:0,0:52,7:99,144:25,7:-,NM_001080423.2(GRIP2) c.331+182T>C:-,0.35:-,NOT_FOUND 3 14581898 . C . . NT END=14583379;NT GT ./. 3 14583194 rs13062253 T C 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4583,C/0.5417 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:230:26.33:26.33:0.00:1.00:1.00:0.00:60:46.0:0:0:81:70:30:NM_001080423.2(GRIP2) c.209+186A>G,NM_001080423.2(GRIP2) c.209+186A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 3 14583589 . G . . NT END=14693343;NT GT ./. 3 14583835 rs56268285 A AT 31 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4591,AT/0.5409;DB;DBA=NA;PAF=A/0.4591,AT/0.5409;NP=7;PC=0.014;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,AT:10:0:9:0:1,9:31,279:0.00,30.78:0.00,0.00:0.00,30.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,6.4:0,0:0,0:147,76:4,75:0,38:-,NM_001080423.2(GRIP2) c.1-u248_1-u247insA:-,0.53:-,NOT_FOUND 3 14614889 rs11707648 T C 46 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.8255,C/0.1745;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:24:0:0:16,19:490,571:46.15,0.00:20.35,0.00:25.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.2,6.9:0,0:0,0:96,53:52,98:23,37:chr3 g.14614888T>C (intergenic),-:0.16,-:NOT_FOUND,- 3 14615056 rs17039828 T C 27 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.8261,C/0.1739;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:28:18:0:0:10,18:304,549:27.20,0.00:11.75,0.00:15.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,11.3:0,0:0,0:96,63:46,88:26,47:chr3 g.14615055T>C (intergenic),-:0.16,-:NOT_FOUND,- 3 14615241 rs9877944 C T 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8253,T/0.1747 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:19:0:0:17,12:505,395:0.00,36.69:0.00,26.37:0.00,10.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,40.8:0,0:0,0:109,100:42,50:26,18:-,chr3 g.14615240C>T (intergenic):-,0.16:-,NOT_FOUND 3 14615601 rs9840720 A C 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.8253,C/0.1747;PC=0.987 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,C:21:14:0:0:5,16:169,548:0.00,57.43:0.00,24.80:0.00,32.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.4,77.9:0,0:0,0:83,110:65,40:5,18:-,chr3 g.14615600A>C (intergenic):-,0.16:-,NOT_FOUND 3 14615612 rs9823227 T C 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.8255,C/0.1745;PC=0.899 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:122:C,T:21:12:0:0:16,5:477,148:50.32,0.00:15.02,0.00:35.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:77.4,26.4:0,0:0,0:104,94:46,54:33,5:chr3 g.14615611T>C (intergenic),-:0.16,-:NOT_FOUND,- 3 14693386 . G . . NT END=14695932;NT GT ./. 3 14696038 . G . . NT END=14697035;NT GT ./. 3 14697137 . G . . NT END=14700377;NT GT ./. 3 14700437 . G . . NT END=14703036;NT GT ./. 3 14702848 rs397840713 A AT 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5815,AT/0.4185;DB;DBA=NA;PAF=A/0.5815,AT/0.4185;NP=836;Gene=CCDC174/NM_016474.4/1;CC=c.308-182dupT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,AT:8:8:3:0:5,3:144,99:0.00,9.04:0.00,9.04:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:13.8,0.0:0,0:0,0:35,16:115,135:13,1:-,NM_016474.4(CCDC174) c.308-189_308-188insT:-,0.41:-,NOT_FOUND 3 14702982 rs2276754 C A 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.227,A/0.773;Gene=CCDC174/NM_016474.4/1;CC=c.308-55C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:30:0:0:15,22:479,706:44.19,0.00:41.39,0.00:2.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,12.0:0,0:0,0:38,40:109,109:21,20:NM_016474.4(CCDC174) c.308-55C>A,-:0.8,-:NOT_FOUND,- 3 14703215 . G . . NT END=14706534;NT GT ./. 3 14703401 rs55915506 CATAATTACA C 15 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CATAATTACA/0.5881,C/0.4119;DB;DBA=NA;PAF=CATAATTACA/0.5881,C/0.4119;NP=45;PC=0.018;Gene=CCDC174/NM_016474.4/1;CC=c.485+206_485+214delATAATTACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:CATAATTACA,C:11:0:0:5:6,5:180,155:0.00,14.60:0.00,0.00:0.00,14.60:0.00,0.93:0.00,0.00:0.00,0.93:60,60:23.7,3.4:0,0:0,0:134,82:16,69:8,27:-,NM_016474.4(CCDC174) c.485+188_485+196delATAATTACA:-,0.41:-,NOT_FOUND 3 14706631 . G . . NT END=14708311;NT GT ./. 3 14706770 rs73022117 A ATTGG 19 nt VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6961,G/0.3039;NP=350;PC=0.001;Gene=CCDC174/NM_016474.4/1;CC=c.581+140_581+141insTTGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,ATTGG:12:0:6:0:6,6:181,198:0.00,19.05:0.00,0.00:0.00,19.05:0.00,0.98:0.00,0.00:0.00,0.98:60,70:8.0,2.0:0,0:0,0:123,106:27,44:24,16:-,NM_016474.4(CCDC174) c.581+140_581+141insTTGG:-,NOT_FOUND:-,NOT_FOUND 3 14708455 . G . . NT END=14708930;NT GT ./. 3 14708918 rs2280383 A G 66 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.2418,G/0.7582;Gene=CCDC174/NM_016474.4/1;CC=c.725-13A>G;VC=Intron;DM=CCDC174/DUF4078 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:49:0:0:32,23:1033,709:0.00,65.63:0.00,40.91:0.00,24.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,37.5:0,0:0,0:57,41:86,104:35,25:-,NM_016474.4(CCDC174) c.725-13A>G:-,0.78:-,0.826849 3 14709026 . G . . NT END=14709555;NT GT ./. 3 14709689 . G . . NT END=14711440;NT GT ./. 3 14709935 rs3773490 T G 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5729,G/0.4271;Gene=CCDC174/NM_016474.4/1;CC=c.952+247T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:G,T:6:0:0:0:4,2:138,59:14.05,0.00:0.00,0.00:14.05,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:42.8,20.0:0,0:0,0:89,48:61,97:22,12:NM_016474.4(CCDC174) c.952+247T>G,-:0.43,-:NOT_FOUND,- 3 14711594 . G . . NT END=14712402;NT GT ./. 3 14712253 rs34453025 C A 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.9906,A/0.009385;NP=6;Gene=CCDC174/NM_016474.4/1;CC=c.1106-150C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:17:0:0:7,10:202,281:18.52,0.00:18.52,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:73.9,21.6:0,0:0,0:47,59:96,91:16,55:NM_016474.4(CCDC174) c.1106-150C>A,-:0.01,-:NOT_FOUND,- 3 14712702 . T . . NT END=14724220;NT GT ./. 3 14724705 . G . . NT END=14725748;NT GT ./. 3 14724923 rs12487541 G A 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5609,A/0.4391;PC=0.005;Gene=C3orf20/NM_001184957.1/0;CC=c.118+219G>A;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.118+219G>A;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.484+219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,G,T:17:0:0:0:6,10,1:157,321,7:13.94,0.00,-0.05:0.00,0.00,0.00:13.94,0.00,-0.05:0.95,0.00,0.00:0.00,0.00,0.00:0.95,0.00,0.00:60,60,60:52.8,50.4,103.0:0,0,0:0,0,0:125,101,77:25,48,74:18,18,0:NM_032137.4(C3orf20) c.484+219G>A,-:0.43,-:NOT_FOUND,- 3 14725668 rs12488352 G A 81 nt VT=SNV;PN=T;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.2568,A/0.7432;Gene=C3orf20/NM_001184957.1/0;CC=c.119-81G>A;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.119-81G>A;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.485-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:46:0:0:27,22:828,651:80.99,0.00:73.04,0.00:7.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,16.5:0,0:0,0:43,63:107,87:29,36:NM_032137.4(C3orf20) c.485-81G>A,-:0.77,-:NOT_FOUND,- 3 14725890 . G . . NT END=14731503;NT GT ./. 3 14731259 rs1864901 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3391,T/0.6609;Gene=C3orf20/NM_001184957.1/0;CC=c.260-245C>T;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.260-245C>T;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.626-245C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,T:4:4:0:0:2,2:61,70:0.00,6.75:0.00,6.75:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,39.5:0,0:0,0:50,43:99,105:9,1:-,NM_032137.4(C3orf20) c.626-245C>T:-,0.67:-,NOT_FOUND 3 14731624 . G . . NT END=14744636;NT GT ./. 3 14731808 rs1432601 C T 28 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6859,T/0.3141;Gene=C3orf20/NM_001184957.1/0;CC=c.379+185C>T;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.379+185C>T;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.745+185C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:8,11:273,284:0.00,27.91:0.00,0.00:0.00,27.91:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.4,42.6:0,0:0,0:108,88:42,62:32,31:-,NM_032137.4(C3orf20) c.745+185C>T:-,0.3:-,NOT_FOUND 3 14744770 . G . . NT END=14745843;NT GT ./. 3 14746126 . G . . NT END=14755513;NT GT ./. 3 14755667 . G . . NT END=14756795;NT GT ./. 3 14756578 rs12495591 A C 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3395,C/0.6605;Gene=C3orf20/NM_001184957.1/0;CC=c.948-218A>C;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.948-218A>C;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.1314-218A>C;VC=Intron;DM=C3orf20/FAM194 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,C:10:10:0:0:4,6:76,208:0.00,20.78:0.00,20.78:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:32.8,35.5:0,0:0,0:20,62:130,89:8,21:-,NM_032137.4(C3orf20) c.1314-218A>C:-,0.66:-,NOT_FOUND 3 14756730 rs9869372 A G 112 nt VT=SNV;PN=A;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.1921,G/0.8079;Gene=C3orf20/NM_001184957.1/0;CC=c.948-66A>G;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.948-66A>G;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.1314-66A>G;VC=Intron;DM=C3orf20/FAM194 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:78:70:0:0:42,36:1306,1186:0.00,112.39:0.00,89.52:0.00,22.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,39.9:0,0:0,0:43,44:104,105:19,33:-,NM_032137.4(C3orf20) c.1314-66A>G:-,0.83:-,NOT_FOUND 3 14756917 . G . . NT END=14763159;NT GT ./. 3 14763292 . G . . NT END=14768407;NT GT ./. 3 14768532 . G . . NT END=14769945;NT GT ./. 3 14768534 rs7636830 A G 121 nt VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.5881,G/0.4119;PC=1.000;Gene=C3orf20/NM_001184957.1/0;CC=c.1324+3A>G;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.1324+3A>G;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.1690+3A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:65:32:0:0:27,38:874,1225:0.00,121.39:0.00,34.63:0.00,86.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,38.9:0,0:0,0:87,111:63,39:34,27:-,NM_032137.4(C3orf20) c.1690+3A>G:-,0.42:-,0.430417 3 14769741 rs6795810 A C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5843,C/0.4157;Gene=C3orf20/NM_001184957.1/0;CC=c.1325-205A>C;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.1325-205A>C;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.1691-205A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,C:11:11:0:0:3,8:99,225:0.00,23.49:0.00,23.49:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.3,36.9:0,0:0,0:123,28:28,117:3,14:-,NM_032137.4(C3orf20) c.1691-205A>C:-,0.43:-,NOT_FOUND 3 14770196 . G . . NT END=14798877;NT GT ./. 3 14799182 . G . . NT END=14801397;NT GT ./. 3 14801506 . G . . NT END=14802979;NT GT ./. 3 14801550 rs2729697 G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8103,A/0.1897;Gene=C3orf20/NM_001184957.1/0;CC=c.1986+45G>A;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.1986+45G>A;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.2352+45G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,G:22:6:0:0:6,16:195,520:16.77,0.00:4.70,0.00:12.06,0.00:0.93,0.00:0.83,0.00:0.99,0.00:60,60:32.5,12.6:0,0:0,0:124,103:26,47:14,22:NM_032137.4(C3orf20) c.2352+45G>A,-:0.24,-:0.255462,- 3 14803123 . G . . NT END=14813573;NT GT ./. 3 14813709 . G . . NT END=14814297;NT GT ./. 3 14813825 rs294624 G C 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.5974,C/0.4026;Gene=C3orf20/NM_001184957.1/0;CC=c.2264+117G>C;VC=Intron;Gene=C3orf20/NM_001184958.1/0;CC=c.2264+117G>C;VC=Intron;Gene=C3orf20/NM_032137.4/1;CC=c.2630+117G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:33:12:0:0:15,18:496,532:46.97,0.00:9.16,0.00:37.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.7,10.3:0,0:0,0:124,101:17,49:17,21:NM_032137.4(C3orf20) c.2630+117G>C,-:0.47,-:NOT_FOUND,- 3 14814383 . C . . NT END=14852359;NT GT ./. 3 14852185 rs294612 T C 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.07947,C/0.9205;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:9:0:0:11:342:39.44:32.39:7.05:1.00:1.00:1.00:60:51.5:0:0:35:116:24:chr3 g.14852184T>C (intergenic),chr3 g.14852184T>C (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 3 14852373 . G . . NT END=14860462;NT GT ./. 3 14852479 rs145773015 C T 58 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.9942,T/0.005791;NP=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:9:0:0:14,19:438,583:0.00,57.57:0.00,16.02:0.00,41.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,43.1:0,0:0,0:115,119:36,32:22,23:-,chr3 g.14852478C>T (intergenic):-,0.0046:-,NOT_FOUND 3 14863104 . G . . NT END=14905634;NT GT ./. 3 14905426 rs10510433 C T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.883,T/0.117;Gene=FGD5/NM_152536.3/1;CC=c.2526-209C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:15:0:0:6,9:197,264:0.00,26.30:0.00,26.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.8,64.1:0,0:0,0:97,36:53,115:30,24:-,NM_152536.3(FGD5) c.2526-209C>T:-,0.14:-,NOT_FOUND 3 14905513 rs172429 T G 117 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.1276,G/0.8724;Gene=FGD5/NM_152536.3/1;CC=c.2526-122T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:G:32:31:0:0:32:1023:117.49:103.82:13.67:1.00:1.00:1.00:60:52.2:0:0:39:112:34:NM_152536.3(FGD5) c.2526-122T>G,NM_152536.3(FGD5) c.2526-122T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 14905768 . G . . NT END=14922078;NT GT ./. 3 14905947 rs11718148 T C 23 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.883,C/0.117;Gene=FGD5/NM_152536.3/1;CC=c.2658+180T>C;VC=Intron;DM=FGD5/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:10,8:239,217:23.09,0.00:0.00,0.00:23.09,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:63.9,33.5:0,0:0,0:120,119:27,32:17,21:NM_152536.3(FGD5) c.2658+180T>C,-:0.14,-:NOT_FOUND,- 3 14905986 rs11718150 T C 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8828,C/0.1172;Gene=FGD5/NM_152536.3/1;CC=c.2658+219T>C;VC=Intron;DM=FGD5/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,C,T:7:0:0:0:1,3,3:9,91,100:0.38,8.70,0.00:0.00,0.00,0.00:0.38,8.70,0.00:0.00,0.69,0.00:0.00,0.00,0.00:0.00,0.69,0.00:60,60,60:32.0,91.0,0.0:0,0,0:0,0,0:69,137,79:82,13,72:0,12,29:NM_152536.3(FGD5) c.2658+219T>C,-:0.14,-:NOT_FOUND,- 3 14922138 . G . . NT END=14922248;NT GT ./. 3 14922280 . G . . NT END=14923796;NT GT ./. 3 14923703 rs532664378 AT A 14 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=AT/0.9902,A/0.009784;NP=16;Gene=FGD5/NM_152536.3/1;CC=c.2748+1434delT;VC=Intron;DM=FGD5/PH;DM=FGD5/RhoGEF;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:AT,A:17:17:0:7:12,5:369,196:0.00,14.21:0.00,16.10:0.00,-1.89:0.00,0.87:0.00,0.99:0.00,0.73:60,60:23.6,6.4:0,1:0,0:52,45:98,105:37,17:-,NM_152536.3(FGD5) c.2748+1425delT:-,NOT_FOUND:-,NOT_FOUND 3 14923862 . G . . NT END=14939015;NT GT ./. 3 14939177 . G . . NT END=14939445;NT GT ./. 3 14939198 rs2117775 G A 314 nt VT=SNV;PN=C;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.2851,A/0.7149;Gene=FGD5/NM_152536.3/1;CC=c.2909+22G>A;VC=Intron;DM=FGD5/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:82:41:0:0:82:2748:313.84:110.81:203.04:1.00:1.00:1.00:60:42.8:0:0:100:39:28:NM_152536.3(FGD5) c.2909+22G>A,NM_152536.3(FGD5) c.2909+22G>A:0.71,0.71:0.780046,0.780046 3 14939364 rs2117774 G A 251 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.2961,A/0.7039;Gene=FGD5/NM_152536.3/1;CC=c.2910-82G>A;VC=Intron;DM=FGD5/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:56:0:0:70:2178:251.02:165.70:85.33:1.00:1.00:1.00:60:46.3:0:0:64:85:41:NM_152536.3(FGD5) c.2910-82G>A,NM_152536.3(FGD5) c.2910-82G>A:0.69,0.69:NOT_FOUND,NOT_FOUND 3 14939479 rs2164356 G T 425 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.3195,T/0.6805;PC=1.000;Gene=FGD5/NM_152536.3/1;CC=c.2943G>T;ProtCh=p.L981=;VC=Silent;DM=FGD5/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:117:85:0:0:2,115:24,3744:0.00,425.50:0.00,220.16:0.00,205.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:31.5,46.8:0,0:0,0:97,62:53,83:41,34:NM_152536.3(FGD5) c.2943G>T (p.(=)),NM_152536.3(FGD5) c.2943G>T (p.(=)):0.67,0.67:0.73528,0.73528 3 14939603 . G . . NT END=14940245;NT GT ./. 3 14939679 rs2307090 G A 147 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.3197,A/0.6803;Gene=FGD5/NM_152536.3/1;CC=c.3066+77G>A;VC=Intron;DM=FGD5/RhoGEF;DM=FGD5/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:10:0:0:41:1279:147.43:18.78:128.65:1.00:1.00:1.00:60:42.9:0:0:109:42:25:NM_152536.3(FGD5) c.3066+77G>A,NM_152536.3(FGD5) c.3066+77G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 3 14940334 . G . . NT END=14941909;NT GT ./. 3 14941961 . G . . NT END=14942509;NT GT ./. 3 14942024 rs2307088 T C 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.5753,C/0.4247;Gene=FGD5/NM_152536.3/1;CC=c.3205+64T>C;VC=Intron;DM=FGD5/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:18:0:0:15,22:438,718:40.10,0.00:13.29,0.00:26.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,1.4:0,0:0,0:118,116:33,30:22,18:NM_152536.3(FGD5) c.3205+64T>C,-:0.41,-:0.478756,- 3 14942569 . G . . NT END=14949146;NT GT ./. 3 14942675 rs293906 G A 66 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.1286,A/0.8714;Gene=FGD5/NM_152536.3/1;CC=c.3264+107G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:1:0:0:19:571:66.07:1.99:64.09:1.00:1.00:1.00:60:52.5:0:0:106:42:30:NM_152536.3(FGD5) c.3264+107G>A,NM_152536.3(FGD5) c.3264+107G>A:0.87,0.87:NOT_FOUND,NOT_FOUND 3 14948936 rs11706878 C A 14 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.8924,A/0.1076;Gene=FGD5/NM_152536.3/1;CC=c.3265-211C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,C:8:8:0:0:5,3:141,104:14.18,0.00:14.18,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:65.0,11.3:0,0:0,0:21,33:129,118:15,28:NM_152536.3(FGD5) c.3265-211C>A,-:0.13,-:NOT_FOUND,- 3 14949219 . G . . NT END=14952367;NT GT ./. 3 14949268 rs9818644 C T 188 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.3197,T/0.6803;PC=0.032;Gene=FGD5/NM_152536.3/1;CC=c.3336+50C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:C,T:52:17:0:0:1,51:6,1649:0.00,187.86:0.00,44.57:0.00,143.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:54.0,41.1:0,0:0,0:121,115:30,36:0,26:NM_152536.3(FGD5) c.3336+50C>T,NM_152536.3(FGD5) c.3336+50C>T:0.67,0.67:0.742685,0.742685 3 14952437 . G . . NT END=14958755;NT GT ./. 3 14958840 . G . . NT END=14960260;NT GT ./. 3 14960062 rs293915 G A 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.5761,A/0.4239;Gene=FGD5/NM_152536.3/1;CC=c.3490-199G>A;VC=Intron;DM=FGD5/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:572:65.78:65.78:0.00:1.00:1.00:0.00:60:54.6:0:0:80:70:37:NM_152536.3(FGD5) c.3490-199G>A,NM_152536.3(FGD5) c.3490-199G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 3 14960170 rs293916 T C 156 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.07228,C/0.9277;Gene=FGD5/NM_152536.3/1;CC=c.3490-91T>C;VC=Intron;DM=FGD5/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:39:0:0:42:1362:156.22:121.54:34.68:1.00:1.00:1.00:60:44.8:0:0:64:86:27:NM_152536.3(FGD5) c.3490-91T>C,NM_152536.3(FGD5) c.3490-91T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 3 14960341 . G . . NT END=14963424;NT GT ./. 3 14963525 . G . . NT END=14963917;NT GT ./. 3 14964043 rs149798859 C T 189 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.995,T/0.004992;NP=76;Gene=FGD5/NM_152536.3/1;CC=c.3795C>T;ProtCh=p.H1265=;VC=Silent;DM=FGD5/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:120:78:0:0:1,57,1,61:11,1796,13,1953:-0.09,0.00,-0.04,188.87:-0.11,0.00,-0.11,78.49:0.01,0.00,0.07,110.39:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:189.0,12.1,13.0,39.4:0,0,0,0:0,0,0,0:121,69,28,71:30,61,122,70:0,38,0,36:-,NM_152536.3(FGD5) c.3795C>T (p.(=)):-,0.01:-,0.015889 3 14964056 . G . . NT END=14964552;NT GT ./. 3 14964683 . G . . NT END=14965514;NT GT ./. 3 14964821 rs1685637 C T 194 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.07508,T/0.9249;Gene=FGD5/NM_152536.3/1;CC=c.3937+139C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:G,T:58:1:0:0:1,57:11,1675:0.20,193.94:0.20,0.00:0.00,193.94:0.00,1.00:0.00,0.99:0.00,1.00:60,60:110.0,50.4:0,0:0,0:18,112:133,39:0,28:NM_152536.3(FGD5) c.3937+139C>T,NM_152536.3(FGD5) c.3937+139C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 14965466 rs4685234 C T 207 nt VT=SNV;PN=C;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.2622,T/0.7378;PC=0.003;Gene=FGD5/NM_152536.3/1;CC=c.3938-49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C,T:57:54:0:0:1,56:8,1819:0.00,207.00:0.00,152.23:0.00,54.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,69.3:0,0:0,0:117,42:34,105:0,25:NM_152536.3(FGD5) c.3938-49C>T,NM_152536.3(FGD5) c.3938-49C>T:0.69,0.69:0.713406,0.713406 3 14965507 rs4685235 A G 280 nt VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.03275,G/0.9673;Gene=FGD5/NM_152536.3/1;CC=c.3938-8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:81:72:0:0:81:2418:280.22:183.46:96.76:1.00:1.00:1.00:60:61.6:0:0:48:97:31:NM_152536.3(FGD5) c.3938-8A>G,NM_152536.3(FGD5) c.3938-8A>G:0.96,0.96:0.940178,0.940178 3 14965646 . G . . NT END=14967576;NT GT ./. 3 14967706 . G . . NT END=14974083;NT GT ./. 3 14967928 rs1687299 T G 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2578,G/0.7422;PC=0.001;Gene=FGD5/NM_152536.3/1;CC=c.4197+223T>G;VC=Intron;DM=FGD5/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:305:34.79:0.00:34.79:1.00:0.00:1.00:60:41.1:0:0:131:20:13:NM_152536.3(FGD5) c.4197+223T>G,NM_152536.3(FGD5) c.4197+223T>G:0.7,0.7:NOT_FOUND,NOT_FOUND 3 14973933 rs188951737 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=2;Gene=FGD5/NM_152536.3/1;CC=c.4198-151C>T;VC=Intron;DM=FGD5/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:23:0:0:14,9:477,277:0.00,25.31:0.00,25.31:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.4,42.2:0,0:0,0:48,66:102,85:11,30:-,NM_152536.3(FGD5) c.4198-151C>T:-,0.0005:-,NOT_FOUND 3 14974239 . G . . NT END=14974637;NT GT ./. 3 14974675 . C . . NT END=15045421;NT GT ./. 3 15045494 . G . . NT END=15055095;NT GT ./. 3 15055297 . G . . NT END=15057658;NT GT ./. 3 15057762 . G . . NT END=15062259;NT GT ./. 3 15062440 . G . . NT END=15064706;NT GT ./. 3 15064855 . G . . NT END=15065621;NT GT ./. 3 15065716 . G . . NT END=15070092;NT GT ./. 3 15070227 . G . . NT END=15071781;NT GT ./. 3 15070374 rs4685237 G C 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=2037;Gene=NR2C2/NM_001291694.1/0;CC=c.932+148G>C;VC=Intron;Gene=NR2C2/NM_003298.4/1;CC=c.989+148G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:1:0:0:14:472:53.87:2.04:51.84:1.00:1.00:1.00:60:33.7:0:0:106:44:15:NM_003298.3(NR2C2) c.989+148G>C,NM_003298.3(NR2C2) c.989+148G>C:1,1:NOT_FOUND,NOT_FOUND 3 15071960 . G . . NT END=15073885;NT GT ./. 3 15074008 . G . . NT END=15076176;NT GT ./. 3 15076317 . G . . NT END=15079506;NT GT ./. 3 15076511 rs596827 G A 67 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.1096,A/0.8904;Gene=NR2C2/NM_001291694.1/0;CC=c.1372+195G>A;VC=Intron;Gene=NR2C2/NM_003298.4/1;CC=c.1429+195G>A;VC=Intron;DM=NR2C2/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:0:0:0:20:579:67.32:0.00:67.32:1.00:0.00:1.00:60:35.8:0:0:94:55:38:NM_003298.3(NR2C2) c.1429+195G>A,NM_003298.3(NR2C2) c.1429+195G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 15079645 . G . . NT END=15080628;NT GT ./. 3 15080735 . G . . NT END=15084340;NT GT ./. 3 15084516 . C . . NT END=15091354;NT GT ./. 3 15092721 . t . . NT END=15092968;NT GT ./. 3 15094141 . C . . NT END=15094797;NT GT ./. 3 15094975 . C . . NT END=15100875;NT GT ./. 3 15100983 . C . . NT END=15106567;NT GT ./. 3 15106723 . G . . NT END=15115288;NT GT ./. 3 15115270 rs3831 G T 229 nt VT=SNV;PN=G;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.8383,T/0.1617;Gene=RBSN/NM_001302378.1/0;CC=c.*19C>A;VC=3UTR;Gene=RBSN/NM_022340.3/1;CC=c.*19C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:149:133:0:0:72,77:2205,2368:0.00,228.72:0.00,152.54:0.00,76.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,37.5:0,0:0,0:46,48:101,98:27,24:-,NM_022340.2(ZFYVE20) c.*19C>A:-,0.18:-,0.216208 3 15116438 . C . . NT END=15117112;NT GT ./. 3 15117218 . C . . NT END=15118568;NT GT ./. 3 15118297 rs2291460 G A 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8309,A/0.1691;Gene=RBSN/NM_001302378.1/0;CC=c.1101+272C>T;VC=Intron;Gene=RBSN/NM_022340.3/1;CC=c.1101+272C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:4:4:0:0:2,2:66,64:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:60.5,0.0:0,0:0,0:31,21:119,129:13,21:NM_022340.2(ZFYVE20) c.1101+272C>T,-:0.18,-:NOT_FOUND,- 3 15118672 . C . . NT END=15119581;NT GT ./. 3 15119669 . C . . NT END=15122238;NT GT ./. 3 15122310 . C . . NT END=15123873;NT GT ./. 3 15124116 . C . . NT END=15126241;NT GT ./. 3 15126086 rs618141 T C 71 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.002196,C/0.9978;NP=2781;Gene=RBSN/NM_001302378.1/0;CC=c.598+156A>G;VC=Intron;Gene=RBSN/NM_022340.3/1;CC=c.598+156A>G;VC=Intron;DM=RBSN/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:C:20:20:0:0:20:612:70.63:70.63:0.00:1.00:1.00:0.00:60:49.4:0:0:62:88:45:NM_022340.2(ZFYVE20) c.598+156A>G,NM_022340.2(ZFYVE20) c.598+156A>G:1,1:NOT_FOUND,NOT_FOUND 3 15126102 rs58022057 C G 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8295,G/0.1705;Gene=RBSN/NM_001302378.1/0;CC=c.598+140G>C;VC=Intron;Gene=RBSN/NM_022340.3/1;CC=c.598+140G>C;VC=Intron;DM=RBSN/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:21:21:0:0:11,10:367,309:0.00,29.34:0.00,29.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:37.5,65.8:0,0:0,0:62,34:87,116:36,31:-,NM_022340.2(ZFYVE20) c.598+140G>C:-,0.2:-,NOT_FOUND 3 15126404 . C . . NT END=15126506;NT GT ./. 3 15126553 . C . . NT END=15127367;NT GT ./. 3 15127469 . C . . NT END=15131905;NT GT ./. 3 15127522 rs72400013 CTAG C 49 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=CTAG/0.6358,C/0.3642;DB;DBA=NA;PAF=CTAG/0.6358,C/0.3642;NP=1830;PC=0.213;Gene=RBSN/NM_001302378.1/0;CC=c.290-57_290-55delCTA;VC=Intron;Gene=RBSN/NM_022340.3/1;CC=c.290-57_290-55delCTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTAG,C:28:8:0:16:12,16:393,497:0.00,49.02:0.00,6.00:0.00,43.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,10.5:0,0:0,0:87,99:63,51:16,20:-,NM_022340.2(ZFYVE20) c.290-57_290-55delCTA:-,0.33:-,NOT_FOUND 3 15132047 . C . . NT END=15132845;NT GT ./. 3 15132717 rs55655564 C CAAAAAA 8 idl,nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;Gene=RBSN/NM_001302378.1/0;CC=c.149-672_149-671insTTTTTT;VC=Intron;Gene=RBSN/NM_022340.3/1;CC=c.149-672_149-671insTTTTTT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,CAAAAAA:10:14:7:0:7,3:243,230:0.00,8.29:0.00,8.29:0.00,0.00:0.00,0.56:0.00,0.56:0.00,0.00:60,60:17.6,163.3:0,4:0,0:113,53:28,97:16,18:-,NM_022340.2(ZFYVE20) c.149-672_149-671insTTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 15132785 . C A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;Gene=RBSN/NM_001302378.1/0;CC=c.149-739G>T;VC=Intron;Gene=RBSN/NM_022340.3/1;CC=c.149-739G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:47:A,C:35:31:0:0:5,30:114,934:7.60,0.00:7.97,0.00:-0.37,0.00:0.78,0.00:0.97,0.00:0.62,0.00:60,60:96.6,12.7:0,0:0,0:99,31:35,117:9,16:NM_022340.2(ZFYVE20) c.149-739G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 15133001 . C . . NT END=15137479;NT GT ./. 3 15133088 rs9869512 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7147,T/0.2853;Gene=RBSN/NM_001302378.1/0;CC=c.149-1042G>A;VC=Intron;Gene=RBSN/NM_022340.3/1;CC=c.149-1042G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:34:8:0:0:1,17,16:11,471,537:0.08,0.00,51.50:-0.03,0.00,10.01:0.11,0.00,41.49:0.00,0.00,1.00:0.00,0.00,0.99:0.00,0.00,1.00:60,60,60:118.0,3.2,35.1:0,0,0:0,0,0:94,85,107:56,62,43:0,46,23:-,NM_022340.2(ZFYVE20) c.149-1042G>A:-,0.27:-,NOT_FOUND 3 15137628 . G . . NT END=15248002;NT GT ./. 3 15183060 rs71308132 T C 27 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7462,C/0.2538;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:160:C,T:13:9:0:0:8,5:272,162:27.25,0.00:18.17,0.00:9.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,50:38.4,10.2:0,0:0,0:81,57:57,93:25,29:chr3 g.15183059T>C (intergenic),-:0.26,-:NOT_FOUND,- 3 15247796 rs1287464 A G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1635,G/0.8365;Gene=CAPN7/NM_014296.2/1;CC=c.-207A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:275:32.25:32.25:0.00:1.00:1.00:0.00:60:45.8:0:0:41:109:19:NM_014296.2(CAPN7) c.-207A>G,NM_014296.2(CAPN7) c.-207A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 3 15248105 . G . . NT END=15252308;NT GT ./. 3 15252430 . G . . NT END=15253610;NT GT ./. 3 15253720 . G . . NT END=15258931;NT GT ./. 3 15259090 . G . . NT END=15259979;NT GT ./. 3 15259337 rs75427397 C A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9495,A/0.05052;Gene=CAPN7/NM_014296.2/1;CC=c.369+248C>A;VC=Intron;DM=CAPN7/Peptidase_C2;DM=CAPN7/MIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,C:5:0:0:0:3,2:95,70:9.47,0.00:0.00,0.00:9.47,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:35.3,0.0:0,0:0,0:46,104:104,46:3,32:NM_014296.2(CAPN7) c.369+248C>A,-:0.06,-:NOT_FOUND,- 3 15259865 rs826426 G A 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.03554,A/0.9645;Gene=CAPN7/NM_014296.2/1;CC=c.370-115G>A;VC=Intron;DM=CAPN7/Peptidase_C2;DM=CAPN7/MIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:292:33.92:33.92:0.00:1.00:1.00:0.00:60:43.0:0:0:61:89:23:NM_014296.2(CAPN7) c.370-115G>A,NM_014296.2(CAPN7) c.370-115G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 3 15260048 . G . . NT END=15262287;NT GT ./. 3 15262489 . G . . NT END=15264981;NT GT ./. 3 15264822 rs3732729 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4964,G/0.5036;Gene=CAPN7/NM_014296.2/1;CC=c.639-160A>G;VC=Intron;DM=CAPN7/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,G:7:7:0:0:3,4:88,127:0.00,12.53:0.00,12.53:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:2.3,84.5:0,0:0,0:25,16:126,134:9,7:-,NM_014296.2(CAPN7) c.639-160A>G:-,0.45:-,NOT_FOUND 3 15265069 . G . . NT END=15269345;NT GT ./. 3 15269257 . C CA 8 rn VT=INS;SST=Single;DP=24;NP=1;Gene=CAPN7/NM_014296.2/1;CC=c.726-79dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:A,C,T,CA,D:24:23:3:2:1,17,1,3,2:11,549,35,99,60:0.07,0.00,2.28,7.64,4.16:-0.30,0.00,1.00,7.70,2.80:0.37,0.00,1.28,-0.06,1.36:0.00,0.00,0.00,0.47,0.00:0.00,0.00,0.00,0.89,0.00:0.00,0.00,0.00,0.48,0.00:60,60,60,60,60:11.0,2.2,90.0,8.7,0.0:0,0,0,0,0:0,0,0,0,0:0,32,77,44,110:151,119,74,107,41:0,18,0,12,13:-,NM_014296.2(CAPN7) c.726-89_726-88insA:-,NOT_FOUND:-,NOT_FOUND 3 15269473 . G . . NT END=15270480;NT GT ./. 3 15270567 . G . . NT END=15271948;NT GT ./. 3 15272043 . G . . NT END=15274025;NT GT ./. 3 15274173 . G . . NT END=15275373;NT GT ./. 3 15275481 . G . . NT END=15276531;NT GT ./. 3 15276541 rs17539942 A G 90 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.9489,G/0.05112;PC=1.000;Gene=CAPN7/NM_014296.2/1;CC=c.1296A>G;ProtCh=p.K432=;VC=Silent;DM=CAPN7/Peptidase_C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:42:0:0:25,29:825,921:0.00,89.66:0.00,44.78:0.00,44.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,39.0:0,0:0,0:59,76:92,75:22,36:-,NM_014296.2(CAPN7) c.1296A>G (p.(=)):-,0.06:-,0.080348 3 15276653 . G . . NT END=15281979;NT GT ./. 3 15282125 . G . . NT END=15282260;NT GT ./. 3 15282361 . G . . NT END=15282959;NT GT ./. 3 15283096 . G . . NT END=15283684;NT GT ./. 3 15283761 . G . . NT END=15287032;NT GT ./. 3 15287179 . G . . NT END=15288238;NT GT ./. 3 15287199 rs41276507 A G 86 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.9495,G/0.05052;Gene=CAPN7/NM_014296.2/1;CC=c.2010+21A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:19:0:0:21,26:706,877:0.00,86.07:0.00,24.32:0.00,61.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,35.8:0,0:0,0:100,88:51,59:34,33:-,NM_014296.2(CAPN7) c.2010+21A>G:-,0.05:-,0.081347 3 15288302 . G . . NT END=15288833;NT GT ./. 3 15288742 . CT C 12 rn VT=DEL;SST=Single;DP=22;NP=11;PC=0.001;Gene=CAPN7/NM_014296.2/1;CC=c.2074-78delT;VC=Intron;DM=CAPN7/Calpain_III;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:CT,I,C:22:22:1:5:16,1,5:519,32,151:0.00,2.01,12.48:0.00,2.06,11.69:0.00,-0.05,0.79:0.00,0.00,0.84:0.00,0.00,0.84:0.00,0.00,0.76:60,60,60:18.7,10.0,15.2:0,0,0:0,0,0:36,7,18:113,143,133:23,0,15:-,NM_014296.2(CAPN7) c.2074-91delT:-,NOT_FOUND:-,NOT_FOUND 3 15288965 . G . . NT END=15292437;NT GT ./. 3 15292199 rs548673296 C T 6 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9994,T/0.000599;Gene=CAPN7/NM_014296.2/1;CC=c.2205-239C>T;VC=Intron;DM=CAPN7/Calpain_III GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:5:0:0:3,2:96,70:0.00,6.49:0.00,6.49:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:5.0,35.0:0,0:0,0:91,58:60,92:4,51:-,NM_014296.2(CAPN7) c.2205-239C>T:-,NOT_FOUND:-,NOT_FOUND 3 15292531 . G . . NT END=15292622;NT GT ./. 3 15292768 . T . . NT END=15297592;NT GT ./. 3 15292828 rs111665976 C T 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9858,T/0.01418;Gene=CAPN7/NM_014296.2/1;CC=c.*61C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:6:0:0:9,11:267,368:0.00,36.08:0.00,5.97:0.00,30.11:0.00,1.00:0.00,0.99:0.00,1.00:60,60:2.1,38.6:0,0:0,0:112,120:38,31:7,14:-,NM_014296.2(CAPN7) c.*61C>T:-,0.02:-,NOT_FOUND 3 15297811 . C . . NT END=15298359;NT GT ./. 3 15298621 . C . . NT END=15300337;NT GT ./. 3 15298787 rs564605440 CTAAAGCAGCTGGAAG C 28 nt VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=CTAAAGCAGCTGGAAG/0.9778,C/0.02216;NP=35;PC=0.041;Gene=SH3BP5-AS1/NR_046084.1/0;VC=NonCoding;Gene=SH3BP5/NM_004844.4/0;CC=c.890-182_890-168delCTTCCAGCTGCTTTA;VC=Intron;Gene=SH3BP5/NM_001018009.3/1;CC=c.419-182_419-168delCTTCCAGCTGCTTTA;VC=Intron;DM=SH3BP5/SH3BP5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTAAAGCAGCTGGAAG,C:19:0:0:9:10,9:310,290:0.00,27.59:0.00,0.00:0.00,27.59:0.00,1.00:0.00,0.00:0.00,1.00:60,60:30.8,13.2:0,0:0,0:118,103:31,47:23,22:-,NR_046084.1(SH3BP5-AS1) n.3098_3112delTAAAGCAGCTGGAAG:-,NOT_FOUND:-,NOT_FOUND 3 15298788 rs376971136 T G 7 idl;end,nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=SH3BP5-AS1/NR_046084.1/0;VC=NonCoding;Gene=SH3BP5/NM_004844.4/0;CC=c.890-168A>C;VC=Intron;Gene=SH3BP5/NM_001018009.3/1;CC=c.419-168A>C;VC=Intron;DM=SH3BP5/SH3BP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:G,T:9:0:0:9:3,6:76,197:6.53,0.00:0.00,0.00:6.53,0.00:0.64,0.00:0.00,0.00:0.64,0.00:60,60:99.7,1.5:0,0:0,0:141,79:7,70:3,30:NR_046084.1(SH3BP5-AS1) n.3098T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 15298789 . A G 8 idl;end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;Gene=SH3BP5-AS1/NR_046084.1/0;VC=NonCoding;Gene=SH3BP5/NM_004844.4/0;CC=c.890-169T>C;VC=Intron;Gene=SH3BP5/NM_001018009.3/1;CC=c.419-169T>C;VC=Intron;DM=SH3BP5/SH3BP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G:9:0:0:9:6,3:198,91:0.00,8.04:0.00,0.00:0.00,8.04:0.00,0.64:0.00,0.00:0.00,0.64:60,60:1.5,99.7:0,0:0,0:80,142:69,6:30,3:-,NR_046084.1(SH3BP5-AS1) n.3099A>G:-,NOT_FOUND:-,NOT_FOUND 3 15300558 . C . . NT END=15301267;NT GT ./. 3 15301311 . C . . NT END=15303665;NT GT ./. 3 15301363 rs2291853 G A 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3063,A/0.6937;Gene=SH3BP5-AS1/NR_046084.1/0;VC=NonCoding;Gene=SH3BP5/NM_004844.4/0;CC=c.627-53C>T;VC=Intron;Gene=SH3BP5/NM_001018009.3/1;CC=c.156-53C>T;VC=Intron;DM=SH3BP5/SH3BP5;DM=SH3BP5/SH3BP5;DM=SH3BP5/SH3BP5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:12:0:0:16,12:517,416:51.03,0.00:7.38,0.00:43.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,2.3:0,0:0,0:108,93:31,57:28,26:NR_046084.1(SH3BP5-AS1) n.4646G>A,-:0.63,-:0.660096,- 3 15303797 . C . . NT END=15311219;NT GT ./. 3 15311325 rs1287467 A G 495 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.4908,G/0.5092;Gene=SH3BP5/NM_004844.4/0;CC=c.390T>C;ProtCh=p.R130=;VC=Silent;Gene=SH3BP5/NM_001018009.3/1;CC=c.-82T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:136:81:0:0:136:4304:494.92:192.98:301.95:1.00:1.00:1.00:60:41.5:0:0:79:66:38:NM_004844.4(SH3BP5) c.390T>C (p.(=)),NM_004844.4(SH3BP5) c.390T>C (p.(=)):0.52,0.52:0.660388,0.660388 3 15311385 . C . . NT END=15314622;NT GT ./. 3 15311464 rs1287468 G T 53 nt VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.6911,T/0.3089;Gene=SH3BP5/NM_004844.4/0;CC=c.331-80C>A;VC=Intron;Gene=SH3BP5/NM_001018009.3/1;CC=c.-141-80C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:52:10:0:0:32,20:1026,583:0.00,52.80:0.00,5.81:0.00,46.99:0.00,1.00:0.00,0.98:0.00,1.00:60,60:21.3,56.1:0,0:0,0:116,125:32,24:21,17:-,NM_004844.4(SH3BP5) c.331-80C>A:-,0.33:-,NOT_FOUND 3 15314458 rs2688667 T C 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.5184,C/0.4816;Gene=SH3BP5/NM_004844.4/0;CC=c.331-3074A>G;VC=Intron;Gene=SH3BP5/NM_001018009.3/1;CC=c.-141-3074A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:10:0:0:12:357:41.42:33.78:7.64:1.00:1.00:1.00:60:104.8:0:0:46:91:31:NM_004844.4(SH3BP5) c.331-3074A>G,NM_004844.4(SH3BP5) c.331-3074A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 3 15314913 . C . . NT END=15345609;NT GT ./. 3 15345807 . C . . NT END=15372010;NT GT ./. 3 15346040 rs826424 T G 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4283,G/0.5717;PC=0.043;Gene=SH3BP5/NM_004844.4/0;CC=c.202-302A>C;VC=Intron;Gene=SH3BP5/NM_001018009.3/1;CC=c.-338-234A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:152:17.55:0.00:17.55:1.00:0.00:1.00:60:52.6:0:0:116:35:25:NM_004844.4(SH3BP5) c.202-302A>C,NM_004844.4(SH3BP5) c.202-302A>C:0.57,0.57:NOT_FOUND,NOT_FOUND 3 15372074 . C . . NT END=15372206;NT GT ./. 3 15372306 . T . . NT END=15373777;NT GT ./. 3 15374137 . A . . NT END=15374594;NT GT ./. 3 15374767 . G . . NT END=15452762;NT GT ./. 3 15416803 rs397988791 CA C 8 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CA/0.6114,C/0.3886;DB;DBA=NA;PAF=NA;NP=19;PC=0.037;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,CA,I,C:16:15:3:3:2,8,3,3:53,269,92,94:3.99,0.00,7.73,7.93:2.01,0.00,7.73,7.93:1.98,0.00,0.00,0.00:0.00,0.00,0.00,0.54:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.46:60,60,60,60:40.5,36.4,14.3,6.7:0,0,0,0:0,0,0,0:25,38,67,72:119,112,84,78:25,34,14,1:-,chr3 g.15416804delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 15441051 . T TTGTG 6 rn VT=INS;SST=Single;DP=5;NP=11;NP=4;PC=0.040;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:T,TTGTG:5:5:2:0:3,2:74,68:0.00,6.31:0.00,4.68:0.00,1.63:0.00,0.46:0.00,0.46:0.00,0.70:60,60:76.3,0.0:0,0:0,0:91,61:38,83:13,18:-,chr3 g.15441051_15441052insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 15452945 . C . . NT END=15455177;NT GT ./. 3 15455453 . C . . NT END=15455527;NT GT ./. 3 15455670 . C . . NT END=15455880;NT GT ./. 3 15455864 . C CT 16 idl,rn VT=INS;SST=Single;DP=84;PC=0.003;Gene=METTL6/NM_001301790.1/0;CC=c.397-196_397-195insA;VC=Intron;Gene=METTL6/NM_001301792.1/0;CC=c.531+1414_531+1415insA;VC=Intron;Gene=METTL6/NM_152396.3/1;CC=c.532-196_532-195insA;VC=Intron;Gene=METTL6/NM_001301791.1/0;CC=c.618-413_618-412insA;VC=Intron;DM=METTL6/Methyltransf_23;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,T,CT,D:79:38:8:9:66,1,7,5:2047,11,257,262:0.00,-0.20,15.60,7.83:0.00,-0.12,2.85,-0.64:0.00,-0.08,12.75,8.47:0.00,0.00,0.87,0.00:0.00,0.00,0.89,0.00:0.00,0.00,0.98,0.00:60,60,60,60:25.8,154.0,28.9,38.8:0,0,1,4:0,0,0,0:102,108,101,66:36,43,49,57:24,0,23,39:-,NM_152396.2(METTL6) c.532-196_532-195insA:-,NOT_FOUND:-,NOT_FOUND 3 15455883 . g . . NT END=15456420;NT GT ./. 3 15456291 rs7652289 C G 81 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.1777,G/0.8223;PC=0.004;Gene=METTL6/NM_001301790.1/0;CC=c.397-622G>C;VC=Intron;Gene=METTL6/NM_001301792.1/0;CC=c.531+988G>C;VC=Intron;Gene=METTL6/NM_152396.3/1;CC=c.532-622G>C;VC=Intron;Gene=METTL6/NM_001301791.1/0;CC=c.617+714G>C;VC=Intron;DM=METTL6/Methyltransf_23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G,T:23:21:0:0:22,1:713,33:81.32,2.41:74.12,2.41:7.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,33.0:0,0:0,0:59,14:89,137:30,0:NM_152396.2(METTL6) c.532-622G>C,NM_152396.2(METTL6) c.532-622G>C:0.8,0.8:NOT_FOUND,NOT_FOUND 3 15456422 . c . . NT END=15457004;NT GT ./. 3 15457091 . C . . NT END=15457278;NT GT ./. 3 15457450 . C . . NT END=15466461;NT GT ./. 3 15466597 . C . . NT END=15467793;NT GT ./. 3 15468019 . C . . NT END=15469286;NT GT ./. 3 15469001 rs2290536 A C 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.08906,C/0.9109,G/.;Gene=METTL6/NM_001301790.1/0;CC=c.-217T>G;VC=5UTR;Gene=METTL6/NM_001301792.1/0;CC=c.-245T>G;VC=5UTR;Gene=METTL6/NM_152396.3/1;CC=c.-217T>G;VC=5UTR;Gene=METTL6/NM_001301791.1/0;CC=c.-217T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:343:39.07:39.07:0.00:1.00:1.00:0.00:60:50.1:0:0:29:120:24:NM_152396.2(METTL6) c.-217T>G,NM_152396.2(METTL6) c.-217T>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 15469390 . G . . NT END=15471419;NT GT ./. 3 15471515 . G . . NT END=15473593;NT GT ./. 3 15471528 rs11322247 AT A 96 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=1137;Gene=EAF1/NM_033083.6/1;CC=c.198+25delT;VC=Intron;DM=EAF1/EAF;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AT,A:32:11:0:28:4,28:128,874:0.00,95.51:0.00,23.13:0.00,72.39:0.00,1.00:0.00,1.00:0.00,1.00:60,70:3.5,10.0:0,0:0,0:145,110:6,41:2,13:-,NM_033083.6(EAF1) c.198+15delT:-,NOT_FOUND:-,0.26885 3 15473515 rs2290535 G A 107 nt VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7234,A/0.2766;PC=0.003;Gene=EAF1/NM_033083.6/1;CC=c.199-79G>A;VC=Intron;DM=EAF1/EAF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:A,T:29:26:0:0:28,1:938,10:106.73,0.28:76.24,0.28:30.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,114.0:0,0:0,0:33,109:113,42:20,0:NM_033083.6(EAF1) c.199-79G>A,NM_033083.6(EAF1) c.199-79G>A:0.27,0.27:NOT_FOUND,NOT_FOUND 3 15473731 . G . . NT END=15475854;NT GT ./. 3 15476011 rs1563415 C G 417 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=NA;PC=0.998;Gene=EAF1/NM_033083.6/1;CC=c.492C>G;ProtCh=p.P164=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:115:43:0:0:1,114:12,3647:0.00,416.94:0.00,101.70:0.00,315.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:41.0,40.2:0,0:0,0:17,87:133,58:0,33:NM_033083.6(EAF1) c.492C>G (p.(=)),NM_033083.6(EAF1) c.492C>G (p.(=)):0.22,0.22:0.193219,0.193219 3 15476046 . G . . NT END=15477848;NT GT ./. 3 15478083 . G . . NT END=15480615;NT GT ./. 3 15480598 rs544812268 A AT 20 rn VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.9988,T/0.001198;NP=8;PC=0.812;Gene=EAF1/NM_033083.6/1;CC=c.761-7dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,AT,D:52:43:8:2:42,8,2:1325,255,63:0.00,19.77,3.71:0.00,15.25,1.56:0.00,4.53,2.16:0.00,0.96,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:19.0,13.4,0.0:0,0,0:0,0,0:56,32,68:81,100,82:27,23,5:-,NM_033083.6(EAF1) c.761-18_761-17insT:-,NOT_FOUND:-,NOT_FOUND 3 15480663 . T . . NT END=15493150;NT GT ./. 3 15493221 . C . . NT END=15495335;NT GT ./. 3 15495439 . C . . NT END=15497401;NT GT ./. 3 15495644 rs3773459 T C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6104,C/0.3896;Gene=COLQ/NM_080538.2/0;CC=c.1166-206A>G;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.1196-206A>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.1094-206A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:C,T:4:0:0:0:3,1:97,32:10.15,0.00:0.00,0.00:10.15,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:71.0,16.0:0,0:0,0:137,88:14,63:3,0:NM_005677.3(COLQ) c.1196-206A>G,-:0.39,-:NOT_FOUND,- 3 15497527 . C . . NT END=15497966;NT GT ./. 3 15498087 . C . . NT END=15499692;NT GT ./. 3 15498261 rs11128745 T C 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4724,C/0.5276;Gene=COLQ/NM_080538.2/0;CC=c.925-175A>G;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.955-175A>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.853-175A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:0:0:0:10,6:301,202:30.23,0.00:0.00,0.00:30.23,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:92.9,5.2:0,0:0,0:74,88:77,60:16,36:NM_005677.3(COLQ) c.955-175A>G,-:0.52,-:NOT_FOUND,- 3 15498272 rs12494919 G A 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.5443,A/0.4557;Gene=COLQ/NM_080538.2/0;CC=c.925-186C>T;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.955-186C>T;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.853-186C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:173:A,G:17:0:0:0:11,6:329,179:33.31,0.00:0.00,0.00:33.31,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:86.9,5.2:0,0:0,0:84,99:67,49:16,36:NM_005677.3(COLQ) c.955-186C>T,-:0.46,-:NOT_FOUND,- 3 15498334 rs373445242 TTTCTTTTG T 16 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=TTTCTTTTG/0.5537,T/0.4463;DB;DBA=NA;PAF=TTTCTTTTG/0.5537,T/0.4463;NP=446;PC=0.054;Gene=COLQ/NM_080538.2/0;CC=c.925-256_925-249delCAAAAGAA;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.955-256_955-249delCAAAAGAA;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.853-256_853-249delCAAAAGAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:TTTCTTTTG,T:10:0:0:5:5,5:161,164:0.00,15.77:0.00,0.00:0.00,15.77:0.00,0.95:0.00,0.00:0.00,0.95:60,60:55.6,58.4:1,0:0,0:136,114:15,35:12,14:-,NM_005677.3(COLQ) c.955-256_955-249delCAAAAGAA:-,0.44:-,NOT_FOUND 3 15499833 . C . . NT END=15507847;NT GT ./. 3 15507761 rs3732722 G A 47 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5373,A/0.4627;PC=0.001;Gene=COLQ/NM_080538.2/0;CC=c.784+87C>T;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.814+87C>T;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.712+87C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:27:0:0:15,12:481,350:47.22,0.00:45.46,0.00:1.76,0.00:1.00,0.00:1.00,0.00:0.70,0.00:60,60:35.2,2.5:0,0:0,0:46,42:105,109:29,15:NM_005677.3(COLQ) c.814+87C>T,-:0.46,-:NOT_FOUND,- 3 15507945 . C . . NT END=15512042;NT GT ./. 3 15512124 . C . . NT END=15515506;NT GT ./. 3 15515543 . C . . NT END=15515734;NT GT ./. 3 15515695 rs2305616 C T 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.5204,T/0.4796;Gene=COLQ/NM_080538.2/0;CC=c.570+40G>A;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.600+40G>A;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.498+40G>A;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:26:0:0:24,17:810,558:0.00,51.83:0.00,24.72:0.00,27.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,35.1:0,0:0,0:62,81:85,70:31,39:-,NM_005677.3(COLQ) c.600+40G>A:-,0.46:-,0.474012 3 15515780 . C . . NT END=15516431;NT GT ./. 3 15515918 rs28632773 C G 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.515,G/0.485;PC=0.001;Gene=COLQ/NM_080538.2/0;CC=c.526-139G>C;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.556-139G>C;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.454-139G>C;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:C,G:16:1:0:0:10,6:287,189:0.00,17.17:0.00,1.78:0.00,15.40:0.00,0.95:0.00,0.58:0.00,0.95:60,60:10.7,42.3:0,0:0,0:75,121:75,29:50,15:-,NM_005677.3(COLQ) c.556-139G>C:-,0.47:-,NOT_FOUND 3 15516459 . C . . NT END=15516931;NT GT ./. 3 15516481 rs924812 T C 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.614,C/0.386;PC=0.869;Gene=COLQ/NM_080538.2/0;CC=c.499-23A>G;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.529-23A>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.427-23A>G;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:16:0:0:11,15:362,475:33.75,0.00:19.97,0.00:13.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.3,16.5:0,0:0,0:115,97:35,41:21,35:NM_005677.3(COLQ) c.529-23A>G,-:0.39,-:0.370368,- 3 15516820 rs924811 C T 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.601,T/0.399;Gene=COLQ/NM_080538.2/0;CC=c.498+112G>A;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.528+112G>A;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.426+112G>A;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:21:0:0:14,9:435,261:0.00,23.71:0.00,20.78:0.00,2.93:0.00,1.00:0.00,1.00:0.00,0.91:60,60:26.6,65.8:0,0:0,0:75,55:69,96:34,49:-,NM_005677.3(COLQ) c.528+112G>A:-,0.4:-,NOT_FOUND 3 15516910 rs3816526 T C 61 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.614,C/0.386;Gene=COLQ/NM_080538.2/0;CC=c.498+22A>G;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.528+22A>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.426+22A>G;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:32:0:0:19,26:655,825:61.26,0.00:29.50,0.00:31.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.2,8.7:0,0:0,0:53,52:96,96:28,32:NM_005677.3(COLQ) c.528+22A>G,-:0.39,-:0.368656,- 3 15516995 . C . . NT END=15518632;NT GT ./. 3 15517025 rs2305615 G A 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.5178,A/0.4822;PC=0.007;Gene=COLQ/NM_080538.2/0;CC=c.436-31C>T;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.466-31C>T;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.364-31C>T;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:40:22:0:0:18,22:617,703:58.33,0.00:19.94,0.00:38.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.2,18.5:0,0:0,0:102,101:44,50:28,27:NM_005677.3(COLQ) c.466-31C>T,-:0.47,-:0.477742,- 3 15518705 . C . . NT END=15520483;NT GT ./. 3 15518731 rs2305612 G C 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.5976,C/0.4024;PC=1.000;Gene=COLQ/NM_080538.2/0;CC=c.364-27C>G;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.394-27C>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.292-27C>G;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:29:0:0:22,29:736,924:68.95,0.00:15.74,0.00:53.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,5.6:0,0:0,0:116,99:29,51:15,15:NM_005677.3(COLQ) c.394-27C>G,-:0.4,-:0.380956,- 3 15520244 rs909354 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.614,T/0.386;PC=0.176;Gene=COLQ/NM_080538.2/0;CC=c.363+240G>A;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.393+240G>A;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.291+240G>A;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:C,T:11:11:0:0:5,6:166,151:0.00,14.65:0.00,14.65:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,39.0:0,0:0,0:64,78:86,71:2,53:-,NM_005677.3(COLQ) c.393+240G>A:-,0.39:-,NOT_FOUND 3 15520511 . C . . NT END=15520844;NT GT ./. 3 15520677 rs2255897 G T 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6136,T/0.3864;PC=0.027;Gene=COLQ/NM_080538.2/0;CC=c.337-167C>A;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.367-167C>A;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.265-167C>A;VC=Intron;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:7:0:0:12,10:409,280:0.00,26.13:0.00,10.32:0.00,15.81:0.00,1.00:0.00,0.98:0.00,1.00:60,60:4.2,39.8:0,0:0,0:86,99:64,50:29,25:-,NM_005677.3(COLQ) c.367-167C>A:-,0.39:-,NOT_FOUND 3 15520890 . C . . NT END=15529712;NT GT ./. 3 15529543 rs1983085 T C 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5451,C/0.4549;Gene=COLQ/NM_080538.2/0;CC=c.291+170A>G;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.321+170A>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.219+1489A>G;VC=Intron;DM=COLQ/Collagen;DM=COLQ/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:C,T:8:8:0:0:5,3:157,93:15.79,0.00:15.79,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:45.2,42.0:0,0:0,0:57,116:94,35:12,5:NM_005677.3(COLQ) c.321+170A>G,-:0.45,-:NOT_FOUND,- 3 15529815 . C . . NT END=15531031;NT GT ./. 3 15531145 . C . . NT END=15540018;NT GT ./. 3 15539770 rs2655302 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.03035,C/0.9696;Gene=COLQ/NM_080538.2/0;CC=c.76+249A>G;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.107-8626A>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.107-8626A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:109:12.78:12.78:0.00:1.00:1.00:0.00:60:87.2:0:0:63:88:9:NM_005677.3(COLQ) c.107-8626A>G,NM_005677.3(COLQ) c.107-8626A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 15539976 rs60324043 C CCACACA 62 idl,nt VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.5192,CCA/.,CCACA/0.1837,CCACACA/0.2089,CCACACACA/0.08826,CCACACACACA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5192,CCACA/0.1837;DB;DBA=NA;PAF=C/0.5192,CCACA/0.1837,CCACACA/0.2089,CCACACACA/0.08826;NP=44;Gene=COLQ/NM_080538.2/0;CC=c.76+42_76+43insTGTGTG;VC=Intron;Gene=COLQ/NM_005677.3/1;CC=c.107-8833_107-8832insTGTGTG;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.107-8833_107-8832insTGTGTG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,CCACACA,D:52:54:26:2:27,1,1,21,2:897,10,8,835,66:0.00,-0.05,-0.11,62.22,4.23:0.00,-0.02,-0.09,52.69,3.16:0.00,-0.02,-0.02,9.53,1.07:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.99,0.00:60,54,60,60,60:6.0,142.0,164.0,9.0,0.0:1,0,0,5,0:0,0,0,0,0:49,81,62,53,32:102,41,87,97,93:30,0,0,28,25:-,NM_005677.3(COLQ) c.107-8833_107-8832insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 15540380 . G . . NT END=15563026;NT GT ./. 3 15540437 rs190882762 A ATCAG 112 nt VT=INS;SST=Single;DP=99;DB;DBA=NA;PAF=A/0.5132,AGTCA/.,ATCAG/0.4868;DB;DBA=NA;PAF=NA;NP=99;Gene=COLQ/NM_005677.3/1;CC=c.107-9294_107-9293insCTGA;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.107-9294_107-9293insCTGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATCAG:99:53:38:0:61,38:1916,1225:0.00,112.02:0.00,43.52:0.00,68.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,31.8:0,0:0,0:94,76:53,72:26,19:-,NM_005677.3(COLQ) c.107-9294_107-9293insCTGA:-,NOT_FOUND:-,NOT_FOUND 3 15540473 rs2605396 A C 95 nt VT=SNV;PN=G;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.5128,C/0.4872;Gene=COLQ/NM_005677.3/1;CC=c.107-9329T>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.107-9329T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:79:35:0:0:46,32,1:1362,1026,13:0.00,94.93,-0.02:0.00,35.61,-0.07:0.00,59.32,0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.6,36.5,35.0:0,0,0:0,0,0:112,114,69:36,36,81:22,17,0:-,NM_005677.3(COLQ) c.107-9329T>G:-,0.45:-,NOT_FOUND 3 15562801 rs6774922 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.4778,C/0.5222;Gene=COLQ/NM_005677.3/1;CC=c.106+226A>G;VC=Intron;Gene=COLQ/NM_080539.3/0;CC=c.106+226A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:10:10:0:0:5,5:173,162:16.68,0.00:16.68,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:40.2,0.0:0,0:0,0:44,75:107,75:28,14:NM_005677.3(COLQ) c.106+226A>G,-:0.48,-:NOT_FOUND,- 3 15563152 . G . . NT END=15602371;NT GT ./. 3 15563251 rs530131087 TGC T 62 nt VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=146;PC=0.055;Gene=COLQ/NM_005677.3/1;CC=c.-121_-120delGC;VC=5UTR;Gene=COLQ/NM_080539.3/0;CC=c.-121_-120delGC;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TGC,T:63:20:0:24:1,41,21:9,1289,692:-0.17,0.00,61.99:0.06,0.00,10.79:-0.23,0.00,51.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:69.0,15.8,58.4:0,0,0:0,0,0:40,100,97:82,48,48:0,36,17:-,NM_005677.3(COLQ) c.-121_-120delGC:-,NOT_FOUND:-,NOT_FOUND 3 15563257 rs370901328 T C 41 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=NA;NP=1;PC=0.043;Gene=COLQ/NM_005677.3/1;CC=c.-125A>G;VC=5UTR;Gene=COLQ/NM_080539.3/0;CC=c.-125A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:60:18:0:0:16,2,42:478,22,1360:40.59,0.06,0.00:5.10,0.56,0.00:35.50,-0.50,0.00:1.00,0.00,0.00:0.99,0.00,0.00:1.00,0.00,0.00:70,60,63:65.3,41.0,25.4:16,0,5:0,0,0:111,98,98:40,38,52:13,52,34:NM_005677.3(COLQ) c.-125A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 15563264 rs368727928 GTGTC G 11 nt VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=37;PC=0.042;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GTGTC,T,G:59:17:0:5:53,1,5:1742,18,165:0.00,0.22,11.49:0.00,-0.09,-0.44:0.00,0.31,11.94:0.00,0.00,0.70:0.00,0.00,0.67:0.00,0.00,0.96:70,60,60:43.2,73.0,34.4:3,1,0:0,0,0:106,32,32:43,119,117:29,0,10:-,NM_005677.3(COLQ) c.-126-u10_-126-u7delGACA:-,NOT_FOUND:-,NOT_FOUND 3 15563268 rs9836565 C G 68 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.5799,G/0.4201;NP=150;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,D:50:14:0:8:1,25,22,2:8,768,717,51:-0.10,0.00,68.08,2.88:-0.03,0.00,14.04,-0.07:-0.07,0.00,54.04,2.95:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:38.0,13.2,72.5,113.0:0,0,0,0:0,0,0,0:98,106,111,17:53,44,39,131:0,33,23,0:-,NM_005677.3(COLQ) c.-126-u10G>C:-,NOT_FOUND:-,NOT_FOUND 3 15563357 rs3806660 T C 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5052,C/0.4948;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:26:0:0:0:10,1,15:328,10,478:30.26,0.05,0.00:0.00,0.00,0.00:30.26,0.05,0.00:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:77.6,193.0,29.6:0,0,0:0,0,0:107,104,91:41,44,60:15,0,38:NM_005677.3(COLQ) c.-126-u99A>G,-:0.46,-:NOT_FOUND,- 3 15563391 rs4684250 A T 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=200;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:498:57.80:0.00:57.80:1.00:0.00:1.00:60:69.1:0:0:115:35:22:NM_005677.3(COLQ) c.-126-u133T>A,NM_005677.3(COLQ) c.-126-u133T>A:1,1:NOT_FOUND,NOT_FOUND 3 15602405 . C . . NT END=15604864;NT GT ./. 3 15605052 . C . . NT END=15606057;NT GT ./. 3 15606166 . C . . NT END=15609350;NT GT ./. 3 15609510 . C . . NT END=15609938;NT GT ./. 3 15610070 rs905650 C T 85 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.889,T/0.111;PC=1.000;Gene=HACL1/NM_001284413.1/0;CC=c.1038G>A;ProtCh=p.L346=;VC=Silent;Gene=HACL1/NM_001284415.1/0;CC=c.939G>A;ProtCh=p.L313=;VC=Silent;Gene=HACL1/NM_001284416.1/0;CC=c.873G>A;ProtCh=p.L291=;VC=Silent;Gene=HACL1/NM_012260.3/1;CC=c.1119G>A;ProtCh=p.L373=;VC=Silent;Gene=HACL1/NR_104315.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:26:0:0:22,28:740,870:0.00,85.45:0.00,33.67:0.00,51.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,33.0:0,0:0,0:90,85:61,65:32,37:-,NM_012260.2(HACL1) c.1119G>A (p.(=)):-,0.11:-,0.108873 3 15610094 . C . . NT END=15613174;NT GT ./. 3 15613277 . C . . NT END=15614665;NT GT ./. 3 15613279 rs56298314 T TA 23 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.7019,TA/0.1234,TAA/.;DB;DBA=NA;PAF=T/0.7019,A/.,G/0.1747;PC=0.998;Gene=HACL1/NM_001284413.1/0;CC=c.913-4dupT;VC=Intron;Gene=HACL1/NM_001284415.1/0;CC=c.915+1386dupT;VC=Intron;Gene=HACL1/NM_001284416.1/0;CC=c.748-4dupT;VC=Intron;Gene=HACL1/NM_012260.3/1;CC=c.994-4dupT;VC=Intron;Gene=HACL1/NR_104315.1/0;VC=NonCoding;DM=HACL1/TPP_enzyme_M;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:26:15:9:1:17,8,1:485,292,34:0.00,22.91,2.17:0.00,13.06,1.11:0.00,9.85,1.06:0.00,0.98,0.00:0.00,0.99,0.00:0.00,0.99,0.00:60,60,60:29.7,2.4,22.0:1,1,0:0,0,0:83,90,95:60,60,56:22,23,0:-,NM_012260.2(HACL1) c.994-4_994-3insT:-,NOT_FOUND:-,NOT_FOUND 3 15613336 . CT C 12 sb;idl,rn VT=DEL;SST=Single;DP=20;PC=0.037;Gene=HACL1/NM_001284413.1/0;CC=c.913-61delA;VC=Intron;Gene=HACL1/NM_001284415.1/0;CC=c.915+1329delA;VC=Intron;Gene=HACL1/NM_001284416.1/0;CC=c.748-61delA;VC=Intron;Gene=HACL1/NM_012260.3/1;CC=c.994-61delA;VC=Intron;Gene=HACL1/NR_104315.1/0;VC=NonCoding;DM=HACL1/TPP_enzyme_M;RN=28 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:A,CT,T,C:19:10:0:8:1,11,2,5:22,283,65,170:1.15,0.00,4.95,12.21:1.22,0.00,-0.34,0.66:-0.08,0.00,5.30,11.55:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.59:60,60,60,60:22.0,14.5,32.5,39.6:0,1,0,1:0,0,0,0:149,127,28,68:2,15,108,54:0,17,9,20:-,NM_012260.2(HACL1) c.994-61delA:-,NOT_FOUND:-,NOT_FOUND 3 15614750 . C . . NT END=15616483;NT GT ./. 3 15616590 . C . . NT END=15621416;NT GT ./. 3 15621553 . C . . NT END=15624383;NT GT ./. 3 15624497 . C . . NT END=15626754;NT GT ./. 3 15626850 . C . . NT END=15628031;NT GT ./. 3 15628110 . C . . NT END=15631046;NT GT ./. 3 15631120 . C . . NT END=15633106;NT GT ./. 3 15633188 . C . . NT END=15637890;NT GT ./. 3 15637932 . C . . NT END=15642596;NT GT ./. 3 15642702 . C . . NT END=15642889;NT GT ./. 3 15643043 rs2019160 A G 1192 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=320;DB;DBA=NA;PAF=A/0.03195,G/0.9681;Gene=HACL1/NM_001284413.1/0;CC=c.-73T>C;VC=5UTR;Gene=HACL1/NM_001284415.1/0;CC=c.-73T>C;VC=5UTR;Gene=HACL1/NM_001284416.1/0;CC=c.-73T>C;VC=5UTR;Gene=HACL1/NM_012260.3/1;CC=c.-73T>C;VC=5UTR;Gene=HACL1/NR_104315.1/0;VC=NonCoding;Gene=BTD/NM_001281723.1/0;CC=c.-185A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:320:234:0:0:1,319:12,10423:0.00,1191.91:0.00,685.56:0.00,506.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,41.8:0,0:0,0:138,67:13,76:0,39:NM_012260.2(HACL1) c.-73T>C,NM_012260.2(HACL1) c.-73T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 15643402 . G . . NT END=15643475;NT GT ./. 3 15643818 . G . . NT END=15671508;NT GT ./. 3 15671628 . G . . NT END=15672933;NT GT ./. 3 15673003 . G . . NT END=15676930;NT GT ./. 3 15677196 . G . . NT END=15683414;NT GT ./. 3 15683760 . T . . NT END=15685822;NT GT ./. 3 15686996 . G . . NT END=15711776;NT GT ./. 3 15712064 . C . . NT END=15717404;NT GT ./. 3 15717497 . C . . NT END=15718480;NT GT ./. 3 15717693 rs2246960 G A 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6122,A/0.3878;Gene=ANKRD28/NM_001195099.1/0;CC=c.2322-197C>T;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.2322-197C>T;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.2784-197C>T;VC=Intron;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:A,C,G:11:0:0:0:5,1,5:149,11,144:14.26,0.40,0.00:0.00,0.00,0.00:14.26,0.40,0.00:0.93,0.00,0.00:0.00,0.00,0.00:0.93,0.00,0.00:60,60,60:34.8,143.0,14.8:0,0,0:0,0,0:61,127,30:89,24,119:18,0,19:NM_015199.3(ANKRD28) c.2784-197C>T,-:0.42,-:NOT_FOUND,- 3 15718564 . C . . NT END=15718986;NT GT ./. 3 15718652 rs2470540 T A 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.5256,A/0.4744;Gene=ANKRD28/NM_001195099.1/0;CC=c.2239-89A>T;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.2239-89A>T;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.2701-89A>T;VC=Intron;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:1:0:0:10,10:291,324:27.80,0.00:-0.15,0.00:27.95,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:34.4,3.2:0,0:0,0:106,113:42,36:30,24:NM_015199.3(ANKRD28) c.2701-89A>T,-:0.5,-:NOT_FOUND,- 3 15719070 . C . . NT END=15719715;NT GT ./. 3 15719862 . C . . NT END=15720807;NT GT ./. 3 15720642 rs71809219 C CT 8 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.005;Gene=ANKRD28/NM_001195099.1/0;CC=c.2009+165_2009+166insA;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.2009+165_2009+166insA;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.2471+165_2471+166insA;VC=Intron;DM=ANKRD28/Ank_2;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,CT:9:9:3:0:6,3:191,92:0.00,8.14:0.00,8.23:0.00,-0.09:0.00,0.64:0.00,0.64:0.00,0.56:60,60:16.8,26.3:0,0:0,0:85,56:65,95:35,10:-,NM_015199.3(ANKRD28) c.2471+165_2471+166insA:-,NOT_FOUND:-,NOT_FOUND 3 15720892 . C . . NT END=15720982;NT GT ./. 3 15721071 . C . . NT END=15726732;NT GT ./. 3 15726953 . C . . NT END=15727508;NT GT ./. 3 15727234 rs2470544 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.606,G/0.394;Gene=ANKRD28/NM_001195099.1/0;CC=c.1617+275T>C;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.1617+275T>C;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.2079+275T>C;VC=Intron;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:4:3:0:0:1,3:32,105:0.00,10.95:0.00,7.20:0.00,3.75:0.00,0.85:0.00,0.99:0.00,0.83:60,60:0.0,35.0:0,0:0,0:0,49:151,101:0,36:-,NM_015199.3(ANKRD28) c.2079+275T>C:-,0.43:-,NOT_FOUND 3 15727627 . C . . NT END=15727728;NT GT ./. 3 15727817 . C . . NT END=15731525;NT GT ./. 3 15731728 . C . . NT END=15736245;NT GT ./. 3 15736321 . C . . NT END=15736694;NT GT ./. 3 15736385 rs2455814 A T 80 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=3453;Gene=ANKRD28/NM_001195099.1/0;CC=c.1135-65T>A;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.1135-65T>A;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.1597-65T>A;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:T:23:9:0:0:23:694:80.30:23.51:56.79:1.00:1.00:1.00:60:34.3:0:0:109:40:30:NM_015199.3(ANKRD28) c.1597-65T>A,NM_015199.3(ANKRD28) c.1597-65T>A:1,1:0.998029,0.998029 3 15736722 . C . . NT END=15737640;NT GT ./. 3 15737610 rs2470547 T C 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5871,C/0.4129;Gene=ANKRD28/NM_001195099.1/0;CC=c.1107+31A>G;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.1107+31A>G;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.1569+31A>G;VC=Intron;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:17:0:0:8,13:265,428:24.26,0.00:20.71,0.00:3.54,0.00:0.99,0.00:1.00,0.00:0.98,0.00:60,60:92.9,2.2:0,0:0,0:15,50:135,99:13,20:NM_015199.3(ANKRD28) c.1569+31A>G,-:0.45,-:0.473033,- 3 15737689 rs2470548 G A 54 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.5308,A/0.4692;PC=1.000;Gene=ANKRD28/NM_001195099.1/0;CC=c.1059C>T;ProtCh=p.N353=;VC=Silent;Gene=ANKRD28/NM_001195098.1/1;CC=c.1059C>T;ProtCh=p.N353=;VC=Silent;Gene=ANKRD28/NM_015199.3/0;CC=c.1521C>T;ProtCh=p.N507=;VC=Silent;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:39:25:0:0:17,1,21:572,10,672:53.96,-0.02,0.00:31.25,-0.13,0.00:22.71,0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:86.5,39.0,1.8:0,0,0:0,0,0:67,50,94:84,93,57:27,0,43:NM_015199.3(ANKRD28) c.1521C>T (p.(=)),-:0.49,-:0.542993,- 3 15737698 rs2470549 T C 55 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.5871,C/0.4129,G/.;PC=1.000;Gene=ANKRD28/NM_001195099.1/0;CC=c.1050A>G;ProtCh=p.Q350=;VC=Silent;Gene=ANKRD28/NM_001195098.1/1;CC=c.1050A>G;ProtCh=p.Q350=;VC=Silent;Gene=ANKRD28/NM_015199.3/0;CC=c.1512A>G;ProtCh=p.Q504=;VC=Silent;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:27:0:0:19,21:578,714:54.81,0.00:32.80,0.00:22.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:81.1,0.4:0,0:0,0:59,66:84,60:29,51:NM_015199.3(ANKRD28) c.1512A>G (p.(=)),-:0.45,-:0.471329,- 3 15737753 . C . . NT END=15749430;NT GT ./. 3 15749213 rs2455830 C T 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.603,T/0.397;Gene=ANKRD28/NM_001195099.1/0;CC=c.995+218G>A;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.995+218G>A;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.1457+218G>A;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:C,T:10:10:0:0:5,5:159,175:0.00,16.88:0.00,16.88:0.00,0.00:0.00,0.95:0.00,0.95:0.00,0.00:60,60:4.0,57.6:0,0:0,0:20,31:130,119:2,14:-,NM_015199.3(ANKRD28) c.1457+218G>A:-,0.44:-,NOT_FOUND 3 15749572 . C . . NT END=15751174;NT GT ./. 3 15751244 . C . . NT END=15752717;NT GT ./. 3 15752782 . C . . NT END=15753646;NT GT ./. 3 15752830 rs2455833 T C 35 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6034,C/0.3966;PC=0.017;Gene=ANKRD28/NM_001195099.1/0;CC=c.722-49A>G;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.722-49A>G;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.1184-49A>G;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:13:0:0:11,13:367,431:34.76,0.00:11.49,0.00:23.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,3.0:0,0:0,0:83,120:67,23:24,20:NM_015199.3(ANKRD28) c.1184-49A>G,-:0.44,-:0.466571,- 3 15753350 rs2470515 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.008;Gene=ANKRD28/NM_001195099.1/0;CC=c.721+297G>A;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.721+297G>A;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.1183+297G>A;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:C,T:6:6:0:0:3,3:104,100:0.00,9.62:0.00,9.78:0.00,-0.15:0.00,0.73:0.00,0.73:0.00,0.67:60,60:0.0,51.3:0,0:0,0:75,39:75,112:2,1:-,NM_015199.3(ANKRD28) c.1183+297G>A:-,0.44:-,NOT_FOUND 3 15753372 rs35787947 A AT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.607,AT/0.393;NP=3;PC=0.210;Gene=ANKRD28/NM_001195099.1/0;CC=c.721+274_721+275insA;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.721+274_721+275insA;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.1183+274_1183+275insA;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,AT,D:7:7:4:1:2,4,1:67,115,32:0.00,11.70,2.70:0.00,11.70,2.70:0.00,0.00,0.00:0.00,0.90,0.00:0.00,0.90,0.00:0.00,0.00,0.00:60,60,60:0.0,68.2,0.0:0,0,0:0,0,0:96,42,21:54,108,130:1,20,0:-,NM_015199.3(ANKRD28) c.1183+274_1183+275insA:-,NOT_FOUND:-,NOT_FOUND 3 15753641 rs2455834 A G 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6104,G/0.3896;PC=0.026;Gene=ANKRD28/NM_001195099.1/0;CC=c.721+6T>C;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.721+6T>C;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.1183+6T>C;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:22:0:0:22,11:712,350:0.00,31.11:0.00,12.56:0.00,18.55:0.00,1.00:0.00,1.00:0.00,0.99:60,60:3.4,52.5:0,0:0,0:70,46:80,105:19,18:-,NM_015199.3(ANKRD28) c.1183+6T>C:-,0.43:-,0.45909 3 15753730 . C . . NT END=15755033;NT GT ./. 3 15755149 . C . . NT END=15756084;NT GT ./. 3 15756039 rs5846873 G GAAA 14 idl,nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6314,GA/0.3686,GAA/.,GAAA/.,GAAAA/.,GAAAAA/.;DB;DBA=NA;PAF=G/0.6314,GA/0.3686,GAA/.;NP=1;NP=2;NP=22;NP=25;NP=4;PC=1.000;Gene=ANKRD28/NM_001195099.1/0;CC=c.523+43_523+45dupTTT;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.523+43_523+45dupTTT;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.985+43_985+45dupTTT;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_4;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:A,G,GAAA,D:19:22:10:1:1,12,5,1:10,377,317,33:0.10,0.00,13.96,2.18:-0.20,0.00,14.12,2.21:0.29,0.00,-0.15,-0.03:0.00,0.00,0.83,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.54,0.00:60,60,60,60:68.0,18.1,46.6,94.0:0,0,5,0:0,0,0,0:23,70,50,50:128,80,99,101:0,49,28,0:-,NM_015199.3(ANKRD28) c.985+45_985+46insTTT:-,NOT_FOUND:-,NOT_FOUND 3 15756164 . C . . NT END=15762421;NT GT ./. 3 15756215 rs924754 A T 50 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.4663,T/0.5337;PC=0.020;Gene=ANKRD28/NM_001195099.1/0;CC=c.445-52T>A;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.445-52T>A;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.907-52T>A;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:11:0:0:11,15:303,503:0.00,49.82:0.00,9.56:0.00,40.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.4,46.1:0,0:0,0:120,114:30,36:9,28:-,NM_015199.3(ANKRD28) c.907-52T>A:-,0.55:-,0.596576 3 15762635 . C . . NT END=15765888;NT GT ./. 3 15762696 rs78257767 C G 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.8742,G/0.1258;Gene=ANKRD28/NM_001195099.1/0;CC=c.232-62G>C;VC=Intron;Gene=ANKRD28/NM_001195098.1/1;CC=c.232-62G>C;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.694-62G>C;VC=Intron;DM=ANKRD28/Ank_2;DM=ANKRD28/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:5:0:0:11,16:367,519:0.00,51.61:0.00,8.13:0.00,43.48:0.00,1.00:0.00,0.99:0.00,1.00:60,60:14.7,40.1:0,0:0,0:110,124:41,26:32,14:-,NM_015199.3(ANKRD28) c.694-62G>C:-,0.13:-,NOT_FOUND 3 15766032 . C . . NT END=15776916;NT GT ./. 3 15777005 . C . . NT END=15778539;NT GT ./. 3 15778741 . C . . NT END=15793256;NT GT ./. 3 15793328 . C . . NT END=15797990;NT GT ./. 3 15798059 . a . . NT END=15807740;NT GT ./. 3 15798246 rs9821921 A G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2188,G/0.7812;Gene=ANKRD28/NM_001195098.1/1;CC=c.-272-4919T>C;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.191-4919T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:A,G:5:0:0:0:2,3:47,101:0.00,10.08:0.00,0.00:0.00,10.08:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,56.7:0,0:0,0:127,74:23,77:4,7:-,NM_015199.3(ANKRD28) c.191-4919T>C:-,0.78:-,NOT_FOUND 3 15807725 rs6789076 T A 43 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.5827,A/0.4173;Gene=ANKRD28/NM_001195098.1/1;CC=c.-273+16A>T;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.190+16A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:35:31:0:0:14,21:466,719:43.05,0.00:29.93,0.00:13.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,2.2:0,0:0,0:83,54:67,86:32,34:NM_015199.3(ANKRD28) c.190+16A>T,-:0.45,-:0.488748,- 3 15807820 . C . . NT END=15836729;NT GT ./. 3 15836814 . C . . NT END=15837902;NT GT ./. 3 15837784 rs1447649 C T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.2188,T/0.7812;Gene=ANKRD28/NM_001195098.1/1;CC=c.-435-971G>A;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.28-971G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:9:9:0:0:3,6:104,191:0.00,19.47:0.00,19.47:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,32.7:0,0:0,0:76,29:71,122:8,11:-,NM_015199.3(ANKRD28) c.28-971G>A:-,0.78:-,NOT_FOUND 3 15838150 rs397988804 G GTT 62 idl,rn VT=INS;SST=Single;DP=75;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=24;NP=73;PC=0.021;Gene=ANKRD28/NM_001195098.1/1;CC=c.-436+1326_-436+1327dupAA;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.28-1339_28-1338dupAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GTT,D:64:47:32:2:40,1,22,1:1240,13,982,61:0.00,0.01,62.07,1.18:0.00,-0.14,26.42,0.57:0.00,0.15,35.65,0.61:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:20.7,96.0,19.5,23.0:0,1,10,1:0,0,0,0:77,72,56,57:66,67,89,83:48,0,31,6:-,NM_015199.3(ANKRD28) c.28-1338_28-1337insAA:-,NOT_FOUND:-,NOT_FOUND 3 15838710 rs2305222 C A 112 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.2161,A/0.7839;PC=0.001;Gene=ANKRD28/NM_001195098.1/1;CC=c.-436+768G>T;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.28-1897G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:94:62:0:3:38,56:1216,1726:112.23,0.00:67.24,0.00:44.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.9,16.7:0,0:0,0:74,80:61,68:36,37:NM_015199.3(ANKRD28) c.28-1897G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 15838716 rs5846878 CA C 68 idl,rn VT=DEL;SST=Single;DP=92;DB;DBA=NA;PAF=CA/0.229,C/0.771;NP=251;PC=0.043;Gene=ANKRD28/NM_001195098.1/1;CC=c.-436+761delT;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.28-1904delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,G,T,I,C:88:55:6:28:6,50,1,1,6,24:90,1491,12,10,193,904:3.81,0.00,-0.07,-0.13,13.59,68.31:-0.66,0.00,-0.11,0.00,8.41,45.75:4.47,0.00,0.04,-0.13,5.18,22.56:0.00,0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00,1.00:60,60,60,60,60,60:73.0,29.9,35.0,43.0,21.8,58.6:0,1,0,0,0,5:0,0,0,0,0,0:35,101,49,109,67,72:110,38,71,13,84,67:19,38,0,0,18,31:-,NM_015199.3(ANKRD28) c.28-1904delT:-,NOT_FOUND:-,NOT_FOUND 3 15839065 rs545968418 T TA 19 idl,rn VT=INS;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.9906,A/0.009385;DB;DBA=NA;PAF=NA;NP=1;NP=6;Gene=ANKRD28/NM_001195098.1/1;CC=c.-436+412dupT;VC=Intron;Gene=ANKRD28/NM_015199.3/0;CC=c.28-2253dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,G,T,TA,D:106:61:9:10:2,1,86,9,8:66,10,2611,274,318:3.40,-0.25,0.00,18.75,17.61:0.72,-0.06,0.00,10.53,10.51:2.69,-0.19,0.00,8.22,7.10:0.00,0.00,0.00,0.95,0.00:0.00,0.00,0.00,0.97,0.00:0.00,0.00,0.00,0.99,0.00:60,60,60,60,60:118.0,204.0,20.0,21.0,21.0:1,0,1,0,2:0,0,0,0,0:78,26,96,87,35:72,111,47,54,114:34,0,31,20,17:-,NM_015199.3(ANKRD28) c.28-2253_28-2252insT:-,NOT_FOUND:-,NOT_FOUND 3 15839459 . G . . NT END=15839477;NT GT ./. 3 15839692 . T . . NT END=15855746;NT GT ./. 3 15855817 . C . . NT END=15900883;NT GT ./. 3 15900911 . g . . NT END=16216658;NT GT ./. 3 15900973 rs62243667 A C 135 nt VT=SNV;PN=G;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.5256,C/0.4744;PC=0.030;Gene=ANKRD28/NM_015199.3/0;CC=c.-63T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:83:40:0:0:39,44:1093,1387:0.00,134.82:0.00,28.92:0.00,105.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.3,37.5:0,0:0,0:106,104:45,44:19,20:-,NM_015199.3(ANKRD28) c.-63T>G:-,0.5:-,NOT_FOUND 3 15901053 rs71064238 CT C 126 nt VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;NP=413;PC=0.595;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:CT,C:44:10:0:40:4,40:120,1132:0.00,126.39:0.00,18.25:0.00,108.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.2,25.6:2,0:0,0:127,79:23,64:23,35:-,NM_015199.3(ANKRD28) c.-143-u1delA:-,0.94:-,NOT_FOUND 3 15901087 rs564654804 C CCCG 36 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.762,CCCG/0.238;NP=10;PC=0.994;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CCCG,D:37:13:13:2:21,1,13,2:642,13,395,55:0.00,0.15,35.86,3.42:0.00,-0.07,6.92,2.18:0.00,0.22,28.94,1.25:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,60,60:34.9,142.0,3.6,54.0:0,0,0,0:0,0,0,0:110,95,62,29:36,56,77,122:28,0,25,24:-,NM_015199.3(ANKRD28) c.-143-u35_-143-u34insCGG:-,NOT_FOUND:-,NOT_FOUND 3 15919575 rs2345741 A G 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1414,G/0.8586;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:9:0:0:11:340:39.24:25.97:13.27:1.00:1.00:1.00:60:39.8:0:0:45:104:36:chr3 g.15919574A>G (intergenic),chr3 g.15919574A>G (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 3 15920220 rs35968305 CCTG C 27 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CCTG/0.7242,C/0.2758;NP=2608;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCTG,C:17:2:0:9:8,9:231,281:0.00,27.30:0.00,-0.65:0.00,27.95:0.00,1.00:0.00,0.82:0.00,1.00:60,70:20.2,0.9:0,0:0,0:101,119:49,31:37,24:-,chr3 g.15920221_15920223delCTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 16217110 rs11715981 C T 196 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.9673,T/0.03275;Gene=GALNT15/NM_054110.4/1;CC=c.452C>T;ProtCh=p.P151L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:98:54:0:0:38,60:1162,1954:0.00,195.55:0.00,75.43:0.00,120.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,42.5:0,0:0,0:84,75:66,73:38,36:-,NM_054110.4(GALNTL2) c.452C>T (p.Pro151Leu):-,0.03:-,0.037929 3 16217198 . G . . NT END=16232889;NT GT ./. 3 16232898 . g . . NT END=16237266;NT GT ./. 3 16237434 . G . . NT END=16242125;NT GT ./. 3 16242331 . G . . NT END=16250009;NT GT ./. 3 16250178 . G . . NT END=16252630;NT GT ./. 3 16252749 . G . . NT END=16254075;NT GT ./. 3 16254271 . G . . NT END=16260909;NT GT ./. 3 16261042 . G . . NT END=16261416;NT GT ./. 3 16261522 . G . . NT END=16264121;NT GT ./. 3 16264266 . G . . NT END=16268860;NT GT ./. 3 16268974 rs15767 T A 347 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.639,A/0.361;PC=0.001;Gene=GALNT15/NM_054110.4/1;CC=c.1887T>A;ProtCh=p.R629=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:98:71:0:0:98:3010:347.38:206.62:140.76:1.00:1.00:1.00:60:68.2:0:0:66:83:34:NM_054110.4(GALNTL2) c.1887T>A (p.(=)),NM_054110.4(GALNTL2) c.1887T>A (p.(=)):0.39,0.39:0.41427,0.41427 3 16268986 rs14576 C A 354 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.7065,A/0.2935;PC=0.028;Gene=GALNT15/NM_054110.4/1;CC=c.1899C>A;ProtCh=p.I633=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:97:70:0:0:97:3079:353.97:205.04:148.94:1.00:1.00:1.00:60:67.8:0:0:68:78:37:NM_054110.4(GALNTL2) c.1899C>A (p.(=)),NM_054110.4(GALNTL2) c.1899C>A (p.(=)):0.33,0.33:0.345687,0.345687 3 16269201 . TA T 42 idl,rn VT=DEL;SST=Single;DP=89;NP=2;Gene=GALNT15/NM_054110.4/1;CC=c.*209delA;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:79:61:6:26:1,56,5,17:32,1648,197,781:1.46,0.00,11.24,41.97:-0.15,0.00,6.92,18.48:1.61,0.00,4.32,23.49:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:32.0,21.8,18.6,49.9:0,0,1,9:0,0,0,0:7,87,91,49:144,62,57,101:0,35,23,34:-,NM_054110.4(GALNTL2) c.*195A[14]:-,NOT_FOUND:-,NOT_FOUND 3 16269555 rs842280 G T 332 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.9513,T/0.04872;PC=0.004;Gene=GALNT15/NM_054110.4/1;CC=c.*548G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:95:62:0:0:95:2872:332.25:169.03:163.22:1.00:1.00:1.00:60:37.9:0:0:63:77:28:NM_054110.4(GALNTL2) c.*548G>T,NM_054110.4(GALNTL2) c.*548G>T:0.04,0.04:NOT_FOUND,NOT_FOUND 3 16269889 . t . . NT END=16270150;NT GT ./. 3 16270141 rs842281 C A 289 nt VT=SNV;PN=T;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.7043,A/0.2957;NP=352;PC=0.022;Gene=GALNT15/NM_054110.4/1;CC=c.*1134C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:86:69:0:0:84,2:2535,49:289.34,0.00:202.76,0.00:86.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:44.3,113.0:0,0:0,0:68,87:82,55:28,50:NM_054110.4(GALNTL2) c.*1134C>A,NM_054110.4(GALNTL2) c.*1134C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 16270147 . CAA C 186 idl,rn VT=DEL;SST=Single;DP=86;NP=20;PC=0.005;Gene=GALNT15/NM_054110.4/1;CC=c.*1154_*1155delAA;VC=3UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:CAA,C:66:67:0:77:9,57:277,2315:0.00,186.24:0.00,126.71:0.00,59.53:0.00,1.00:0.00,1.00:0.00,1.00:60,70:64.8,57.4:0,20:0,0:130,67:16,82:20,28:-,NM_054110.4(GALNTL2) c.*1141A[13]:-,NOT_FOUND:-,NOT_FOUND 3 16271085 rs1394911 C T 97 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.9447,T/0.05531;Gene=GALNT15/NM_054110.4/1;CC=c.*2078C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:43:0:0:27,32:818,990:0.00,96.61:0.00,57.19:0.00,39.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,42.0:0,0:0,0:105,96:46,52:39,27:-,NM_054110.4(GALNTL2) c.*2078C>T:-,0.06:-,NOT_FOUND 3 16271254 . T . . NT END=16273299;NT GT ./. 3 16273500 . G . . NT END=16285510;NT GT ./. 3 16273512 rs78766429 A G 64 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.9862,G/0.01378;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:12:0:0:22,21:713,674:0.00,64.47:0.00,16.43:0.00,48.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.9,50.9:0,0:0,0:87,113:64,37:21,22:-,chr3 g.16273511A>G (intergenic):-,0.02:-,NOT_FOUND 3 16273558 rs9848911 A G 119 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5931,G/0.4069 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:3:0:0:34:1031:119.25:7.40:111.85:1.00:1.00:1.00:60:41.6:0:0:93:58:41:chr3 g.16273557A>G (intergenic),chr3 g.16273557A>G (intergenic):0.41,0.41:NOT_FOUND,NOT_FOUND 3 16285262 rs842264 T A 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4485,A/0.5515;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:196:22.46:22.46:0.00:1.00:1.00:0.00:60:32.7:0:0:65:85:34:chr3 g.16285261T>A (intergenic),chr3 g.16285261T>A (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 3 16285414 rs842263 T A 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.3626,A/0.6374 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:41:38:0:0:20,21:634,667:60.60,0.00:50.73,0.00:9.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,4.4:0,0:0,0:59,28:91,120:47,24:chr3 g.16285413T>A (intergenic),-:0.6,-:NOT_FOUND,- 3 16285520 . G . . NT END=16302270;NT GT ./. 3 16302337 . C . . NT END=16305661;NT GT ./. 3 16305674 rs14080 C G 88 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.5663,G/0.4337;PC=1.000;Gene=DPH3/NM_001047434.2/0;CC=c.108+602G>C;VC=Intron;Gene=DPH3/NM_206831.2/1;CC=c.171G>C;ProtCh=p.V57=;VC=Silent;DM=DPH3/zf-CSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:64:46:0:0:36,28:1232,938:0.00,88.11:0.00,66.70:0.00,21.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,47.2:0,0:0,0:48,39:97,104:25,27:-,NM_206831.2(DPH3) c.171G>C (p.(=)):-,0.42:-,0.399354 3 16305737 . C . . NT END=16306275;NT GT ./. 3 16306018 rs2245708 C T 18 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2877,T/0.7123;Gene=DPH3/NM_001047434.2/0;CC=c.108+258G>A;VC=Intron;Gene=DPH3/NM_206831.2/1;CC=c.108+258G>A;VC=Intron;DM=DPH3/zf-CSL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:C,T:10:7:0:0:4,6:113,179:0.00,17.81:0.00,19.01:0.00,-1.19:0.00,0.99:0.00,1.00:0.00,0.94:60,60:21.8,35.2:0,0:0,0:78,28:71,121:47,20:-,NM_206831.2(DPH3) c.108+258G>A:-,0.69:-,NOT_FOUND 3 16306384 . G . . NT END=16307321;NT GT ./. 3 16307367 . G . . NT END=16310632;NT GT ./. 3 16310783 . G . . NT END=16312435;NT GT ./. 3 16310857 rs842258 G A 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4333,A/0.5667;Gene=OXNAD1/NM_138381.3/1;CC=c.-9+75G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:5:0:0:12,11:376,350:36.41,0.00:8.07,0.00:28.34,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:34.2,2.6:0,0:0,0:114,109:37,42:14,33:NM_138381.3(OXNAD1) c.-9+75G>A,-:0.58,-:NOT_FOUND,- 3 16312564 rs842259 C T 107 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.5793,T/0.4207;PC=0.241;Gene=OXNAD1/NM_138381.3/1;CC=c.105C>T;ProtCh=p.H35=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:35:0:0:37,35:1178,1120:0.00,107.03:0.00,39.45:0.00,67.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,43.9:0,0:0,0:92,106:44,45:27,22:-,NM_138381.3(OXNAD1) c.105C>T (p.(=)):-,0.4:-,0.385668 3 16312579 . G . . NT END=16313165;NT GT ./. 3 16312716 rs11284055 GT G 16 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=GT/0.2879,G/0.7121;NP=1903;PC=0.001;Gene=OXNAD1/NM_138381.3/1;CC=c.119+146delT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:GT,G:18:2:0:6:12,6:383,182:0.00,16.10:0.00,-0.18:0.00,16.27:0.00,0.94:0.00,0.63:0.00,0.94:60,60:8.5,6.3:0,0:0,0:91,65:59,85:15,31:-,NM_138381.3(OXNAD1) c.119+139delT:-,NOT_FOUND:-,NOT_FOUND 3 16313230 . G . . NT END=16327848;NT GT ./. 3 16327855 rs842274 T G 74 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.5669,G/0.4331;PC=1.000;Gene=OXNAD1/NM_138381.3/1;CC=c.190T>G;ProtCh=p.S64A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:47:41:0:0:23,24:773,781:74.10,0.00:45.85,0.00:28.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,2.9:0,0:0,0:54,55:93,87:32,19:NM_138381.3(OXNAD1) c.190T>G (p.Ser64Ala),-:0.42,-:0.399969,- 3 16327956 . G . . NT END=16336362;NT GT ./. 3 16336505 . G . . NT END=16343132;NT GT ./. 3 16343092 rs842283 T G 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.2849,G/0.7151;Gene=OXNAD1/NM_138381.3/1;CC=c.433-41T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:56:53:0:0:1,23,32:10,700,980:-0.09,64.70,0.00:-0.06,49.50,0.00:-0.02,15.20,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:88.0,50.0,20.4:0,0,0:0,0,0:137,43,44:13,102,106:0,24,31:NM_138381.3(OXNAD1) c.433-41T>G,-:0.69,-:0.696755,- 3 16343376 . G . . NT END=16344146;NT GT ./. 3 16343505 rs842282 T C 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.2847,C/0.7153;Gene=OXNAD1/NM_138381.3/1;CC=c.675+130T>C;VC=Intron;DM=OXNAD1/NAD_binding_1;DM=OXNAD1/NAD_binding_1;DM=OXNAD1/NAD_binding_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:1:0:0:13,13:403,426:38.64,0.00:3.78,0.00:34.87,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:32.8,0.0:0,0:0,0:112,115:38,36:27,12:NM_138381.3(OXNAD1) c.675+130T>C,-:0.69,-:NOT_FOUND,- 3 16344256 . G . . NT END=16344914;NT GT ./. 3 16345070 . G . . NT END=16358334;NT GT ./. 3 16358584 rs690241 T C 141 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.4253,C/0.5747;Gene=RFTN1/NM_015150.1/1;CC=c.1488A>G;ProtCh=p.S496=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:120:70:0:0:51,69:1526,2362:141.34,0.00:50.62,0.00:90.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.7,7.0:0,0:0,0:81,84:64,63:30,36:NM_015150.1(RFTN1) c.1488A>G (p.(=)),-:0.59,-:0.605413,- 3 16358740 . C . . NT END=16364882;NT GT ./. 3 16364919 rs690216 A C 61 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.4227,C/0.5773,T/.;PC=0.001;Gene=RFTN1/NM_015150.1/1;CC=c.1296T>G;ProtCh=p.P432=;VC=Silent;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:51:43:0:0:31,20:1038,664:0.00,61.11:0.00,37.85:0.00,23.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,42.2:0,0:0,0:62,71:67,79:33,35:-,NM_015150.1(RFTN1) c.1296T>G (p.(=)):-,0.59:-,0.603568 3 16364965 . C . . NT END=16368279;NT GT ./. 3 16368121 rs690145 T C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4257,C/0.5743;Gene=RFTN1/NM_015150.1/1;CC=c.1250+159A>G;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,T:8:8:0:0:3,5:104,144:9.53,0.00:9.53,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:34.7,21.8:0,0:0,0:47,25:102,126:27,15:NM_015150.1(RFTN1) c.1250+159A>G,-:0.58,-:NOT_FOUND,- 3 16368384 . C . . NT END=16399438;NT GT ./. 3 16399555 . C . . NT END=16411582;NT GT ./. 3 16411787 . C . . NT END=16419224;NT GT ./. 3 16419025 rs690049 A T 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.4461,T/0.5539;Gene=RFTN1/NM_015150.1/1;CC=c.826+200T>A;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:23:23:0:0:8,15:239,470:0.00,47.73:0.00,47.73:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.2,31.9:0,0:0,0:38,18:112,133:35,18:-,NM_015150.1(RFTN1) c.826+200T>A:-,0.58:-,NOT_FOUND 3 16419610 . C . . NT END=16450881;NT GT ./. 3 16419708 rs690317 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.2406,A/0.7594;Gene=RFTN1/NM_015150.1/1;CC=c.442-99C>T;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:0:0:0:11,21:358,669:32.12,0.00:0.00,0.00:32.12,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:55.8,10.8:0,0:0,0:72,59:79,92:37,32:NM_015150.1(RFTN1) c.442-99C>T,-:0.77,-:NOT_FOUND,- 3 16419797 rs486681 T G 12 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.7808,G/0.2192;Gene=RFTN1/NM_015150.1/1;CC=c.442-188A>C;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:G,T:18:0:0:0:5,13:143,402:12.06,0.00:0.00,0.00:12.06,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:89.2,18.5:0,0:0,0:138,128:13,22:3,20:NM_015150.1(RFTN1) c.442-188A>C,-:0.26,-:NOT_FOUND,- 3 16450872 rs1546650 T C 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.369,C/0.631;Gene=RFTN1/NM_015150.1/1;CC=c.441+10A>G;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:29:0:0:16,20:519,609:48.78,0.00:26.87,0.00:21.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,5.5:0,0:0,0:60,69:91,80:31,34:NM_015150.1(RFTN1) c.441+10A>G,-:0.61,-:0.631401,- 3 16450991 . C . . NT END=16475357;NT GT ./. 3 16475545 . C . . NT END=16496284;NT GT ./. 3 16485219 rs7644810 C T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3498,T/0.6502;PC=0.412;Gene=RFTN1/NM_015150.1/1;CC=c.146-9675G>A;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:132:15.11:11.23:3.88:1.00:1.00:1.00:60:33.0:0:0:36:84:13:NM_015150.1(RFTN1) c.146-9675G>A,NM_015150.1(RFTN1) c.146-9675G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 3 16485257 rs141070478 AAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AAC/0.8105,A/0.1895;NP=32;PC=0.009;Gene=RFTN1/NM_015150.1/1;CC=c.146-9715_146-9714delGT;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:AAC,A:4:4:0:2:2,2:69,68:0.00,6.55:0.00,3.27:0.00,3.27:0.00,0.51:0.00,0.51:0.00,0.51:60,60:32.0,32.5:0,0:0,0:86,83:42,57:20,1:-,NM_015150.1(RFTN1) c.146-9715_146-9714delGT:-,NOT_FOUND:-,NOT_FOUND 3 16496340 . t . . NT END=16524252;NT GT ./. 3 16524367 . T . . NT END=16535231;NT GT ./. 3 16535097 rs10454232 C T 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8199,T/0.1801;Gene=RFTN1/NM_015150.1/1;CC=c.145+135G>A;VC=Intron;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:9,7:254,221:0.00,20.68:0.00,20.68:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:55.8,56.6:0,0:0,0:65,61:71,71:21,9:-,NM_015150.1(RFTN1) c.145+135G>A:-,0.17:-,NOT_FOUND 3 16535229 rs3815962 C T 119 nt VT=SNV;PN=T;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.5994,T/0.4006;PC=1.000;Gene=RFTN1/NM_015150.1/1;CC=c.145+3G>A;VC=Intergenic;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin;DM=RFTN1/Raftlin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:45:0:0:43,41:1441,1252:0.00,119.42:0.00,60.22:0.00,59.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.0,52.0:0,0:0,0:44,54:106,92:22,18:-,NM_015150.1(RFTN1) c.145+3G>A:-,0.38:-,0.367523 3 16535377 . T . . NT END=16630166;NT GT ./. 3 16549126 rs77830013 C CACAT 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5813,CACACACAT/.,CACACAT/0.4187,CAT/.;DB;DBA=NA;PAF=NA;NP=1;NP=108;NP=17;NP=37;PC=0.004;Gene=RFTN1/NM_015150.1/1;CC=c.-9+5822_-9+5823insATGT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,CACAT:4:4:3:0:2,2:72,101:0.00,6.41:0.00,1.58:0.00,4.84:0.00,0.46:0.00,0.87:0.00,0.46:60,70:0.0,0.0:0,1:0,0:82,60:68,90:8,19:-,NM_015150.1(RFTN1) c.-9+5822_-9+5823insATGT:-,NOT_FOUND:-,NOT_FOUND 3 16630221 . C . . NT END=16633556;NT GT ./. 3 16633656 . C . . NT END=16635161;NT GT ./. 3 16635276 . C . . NT END=16636039;NT GT ./. 3 16635866 rs13067997 C G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7366,G/0.2634;Gene=DAZL/NM_001190811.1/0;CC=c.681+174G>C;VC=Intron;Gene=DAZL/NM_001351.3/1;CC=c.621+174G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:99:12.16:12.16:0.00:1.00:1.00:0.00:60:26.0:0:0:73:77:40:NM_001351.3(DAZL) c.621+174G>C,NM_001351.3(DAZL) c.621+174G>C:0.27,0.27:NOT_FOUND,NOT_FOUND 3 16636091 . C . . NT END=16636820;NT GT ./. 3 16636093 . T TA 24 idl,rn VT=INS;SST=Single;DP=44;NP=1;NP=1;PC=0.999;Gene=DAZL/NM_001190811.1/0;CC=c.631-4dupT;VC=Intron;Gene=DAZL/NM_001351.3/1;CC=c.571-4dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:42:35:10:2:32,9,1:962,324,67:0.00,23.93,1.82:0.00,15.94,0.87:0.00,7.99,0.95:0.00,0.99,0.00:0.00,1.00,0.00:0.00,0.98,0.00:60,60,60:24.0,28.3,0.0:0,1,1:0,0,0:110,87,48:38,40,84:15,31,15:-,NM_001351.3(DAZL) c.571-4_571-3insT:-,NOT_FOUND:-,NOT_FOUND 3 16636465 rs6787063 C G,T 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4902,G/0.5098 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:G,T:5:1:0:0:4,1:110,9:12.49,0.70:3.98,0.00:8.51,0.70:0.96,0.00:0.87,0.00:1.00,0.00:60,60:87.8,121.0:0,0:0,0:42,85:108,65:17,0:NM_001351.3(DAZL) c.570+356G>C,NM_001351.3(DAZL) c.570+356G>A:0.51,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 16636893 . C . . NT END=16638256;NT GT ./. 3 16638397 . C . . NT END=16638494;NT GT ./. 3 16638559 . C . . NT END=16638996;NT GT ./. 3 16638775 rs2217204 T C 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2542,C/0.7458;Gene=DAZL/NM_001190811.1/0;CC=c.355-217A>G;VC=Intron;Gene=DAZL/NM_001351.3/1;CC=c.295-217A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:3:0:0:13:446:50.80:11.53:39.27:1.00:1.00:1.00:60:70.7:0:0:62:88:49:NM_001351.3(DAZL) c.295-217A>G,NM_001351.3(DAZL) c.295-217A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 3 16638810 rs2195155 T C 53 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.8488,C/0.1512;Gene=DAZL/NM_001190811.1/0;CC=c.354+187A>G;VC=Intron;Gene=DAZL/NM_001351.3/1;CC=c.294+187A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:6:0:0:14:468:53.48:22.86:30.61:1.00:1.00:1.00:60:64.1:0:0:49:102:34:NM_001351.3(DAZL) c.294+187A>G,NM_001351.3(DAZL) c.294+187A>G:0.18,0.18:NOT_FOUND,NOT_FOUND 3 16639049 . C . . NT END=16639593;NT GT ./. 3 16639686 . C . . NT END=16639958;NT GT ./. 3 16639754 rs3773827 G T 221 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.5062,T/0.4938;Gene=DAZL/NM_001190811.1/0;CC=c.211-69C>A;VC=Intron;Gene=DAZL/NM_001351.3/1;CC=c.151-69C>A;VC=Intron;DM=DAZL/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:G,T:63:18:0:0:1,62:33,1941:0.00,221.22:0.00,58.63:0.00,162.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,47.5:0,0:0,0:101,100:49,49:0,25:NM_001351.3(DAZL) c.151-69C>A,NM_001351.3(DAZL) c.151-69C>A:0.5,0.5:NOT_FOUND,NOT_FOUND 3 16640106 . C . . NT END=16645946;NT GT ./. 3 16640320 rs13065313 C T 60 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.8349,T/0.1651;PC=0.003;Gene=DAZL/NM_001190811.1/0;CC=c.64-215G>A;VC=Intron;Gene=DAZL/NM_001351.3/1;CC=c.4-215G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:520:60.05:0.00:60.05:1.00:0.00:1.00:60:41.8:0:0:96:55:39:NM_001351.3(DAZL) c.4-215G>A,NM_001351.3(DAZL) c.4-215G>A:0.19,0.19:NOT_FOUND,NOT_FOUND 3 16646194 rs2162616 G T 460 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=127;DB;DBA=NA;PAF=G/0.7302,T/0.2698;Gene=DAZL/NM_001190811.1/0;CC=c.-185C>A;VC=5UTR;Gene=DAZL/NM_001351.3/1;CC=c.3+516C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:127:59:0:0:2,125:19,4017:0.28,460.05:0.00,170.63:0.28,289.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:91.0,40.0:0,0:0,0:90,83:60,67:5,32:NM_001351.3(DAZL) c.3+516C>A,NM_001351.3(DAZL) c.3+516C>A:0.28,0.28:NOT_FOUND,NOT_FOUND 3 16646298 . g . . NT END=16646709;NT GT ./. 3 16646713 . G . . NT END=17051216;NT GT ./. 3 16646745 rs9847342 C G 249 nt VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.03235,A/.,G/0.9677;PC=0.071;Gene=DAZL/NM_001351.3/1;CC=c.-33G>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:67:41:0:0:67:2176:249.44:95.29:154.15:1.00:1.00:1.00:60:42.0:0:0:76:73:29:NM_001351.3(DAZL) c.-33G>C,NM_001351.3(DAZL) c.-33G>C:0.95,0.95:0.934269,0.934269 3 16647017 rs75529475 G GC 18 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;PC=0.042;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GC:5:0:5:0:5:156:17.98:0.00:17.98:1.00:0.00:1.00:60:7.6:0:0:110:41:19:NM_001351.3(DAZL) c.-294-u12_-294-u11insG,NM_001351.3(DAZL) c.-294-u12_-294-u11insG:0.98,0.98:NOT_FOUND,NOT_FOUND 3 16838450 rs9866541 A C 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3752,C/0.6248 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C:4:3:0:0:2,2:64,71:0.00,6.85:0.00,3.58:0.00,3.27:0.00,0.51:0.00,0.89:0.00,0.51:60,60:11.5,58.0:0,0:0,0:125,118:17,27:6,15:-,chr3 g.16838449A>C (intergenic):-,0.59:-,NOT_FOUND 3 16986731 rs56395801 TACAC A,T 7 end;mq,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=243;DM=PLCL2/PI-PLC-X GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:A,T:3:4:0:3:1,2:30,100:2.88,7.05:2.88,3.53:0.00,3.53:0.00,0.51:0.00,0.51:0.00,0.79:15,60:97.0,52.0:0,1:0,0:3,14:148,102:0,2:NM_015184.5(PLCL2) c.-52+11948_-52+11952delTACACinsA,NM_015184.5(PLCL2) c.-52+11949_-52+11952delACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 16986805 rs9841259 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.399,A/0.601;Gene=PLCL2/NM_001144382.1/0;CC=c.316+59940G>A;VC=Intron;Gene=PLCL2/NM_015184.5/1;CC=c.-52+12022G>A;VC=Intron;DM=PLCL2/PI-PLC-X GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:139:15.81:11.88:3.93:1.00:1.00:1.00:60:50.2:0:0:84:49:4:NM_015184.5(PLCL2) c.-52+12022G>A,NM_015184.5(PLCL2) c.-52+12022G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 3 17021485 rs4685412 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3734,C/0.6266;Gene=PLCL2/NM_001144382.1/0;CC=c.317-29681T>C;VC=Intron;Gene=PLCL2/NM_015184.5/1;CC=c.-51-29681T>C;VC=Intron;DM=PLCL2/PI-PLC-X GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:117:13.59:9.61:3.98:1.00:1.00:1.00:60:76.8:0:0:56:94:9:NM_015184.5(PLCL2) c.-51-29681T>C,NM_015184.5(PLCL2) c.-51-29681T>C:0.52,0.52:NOT_FOUND,NOT_FOUND 3 17050993 rs7612044 G C 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3488,C/0.6512;Gene=PLCL2/NM_001144382.1/0;CC=c.317-173G>C;VC=Intron;Gene=PLCL2/NM_015184.5/1;CC=c.-51-173G>C;VC=Intron;DM=PLCL2/PI-PLC-X GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:C,G:5:5:0:0:4,1:139,20:14.73,0.00:14.73,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:34.8,149.0:0,0:0,0:42,39:108,89:16,0:NM_001144382.1(PLCL2) c.-81-u171G>C,-:0.6,-:NOT_FOUND,- 3 17051328 rs7653834 T C 303 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.5471,C/0.4529;PC=0.907;Gene=PLCL2/NM_001144382.1/0;CC=c.479T>C;ProtCh=p.F160S;VC=Missense;Gene=PLCL2/NM_015184.5/1;CC=c.112T>C;ProtCh=p.L38=;VC=Silent;DM=PLCL2/PI-PLC-X;DM=PLCL2/PH_12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:81:54:0:0:1,80:10,2653:0.12,302.96:0.00,167.04:0.12,135.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:105.0,39.6:0,0:0,0:19,70:132,75:0,36:NM_001144382.1(PLCL2) c.490T>C (p.(=)),NM_001144382.1(PLCL2) c.490T>C (p.(=)):0.4,0.4:0.37475,0.37475 3 17053499 rs4602367 A G 291 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.3778,G/0.6222;PC=0.997;Gene=PLCL2/NM_001144382.1/0;CC=c.2650A>G;ProtCh=p.K884E;VC=Missense;Gene=PLCL2/NM_015184.5/1;CC=c.2283A>G;ProtCh=p.G761=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:84:51:0:0:1,1,82:10,35,2539:0.00,2.06,290.69:0.00,0.00,140.96:0.00,2.06,149.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:97.0,89.0,38.5:0,0,0:0,0,0:31,129,82:120,22,67:0,0,36:NM_001144382.1(PLCL2) c.2661A>G (p.(=)),NM_001144382.1(PLCL2) c.2661A>G (p.(=)):0.58,0.58:0.563663,0.563663 3 17053653 . G . . NT END=17056199;NT GT ./. 3 17056031 rs7611127 G A 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.3574,A/0.6426;PC=0.082;Gene=PLCL2/NM_001144382.1/0;CC=c.2804-169G>A;VC=Intron;Gene=PLCL2/NM_015184.5/1;CC=c.2437-169G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:A:16:16:0:0:16:466:54.08:54.08:0.00:1.00:1.00:0.00:60:41.4:0:0:47:103:24:NM_001144382.1(PLCL2) c.2815-169G>A,NM_001144382.1(PLCL2) c.2815-169G>A:0.6,0.6:NOT_FOUND,NOT_FOUND 3 17056404 . G . . NT END=17084365;NT GT ./. 3 17084057 rs56386177 G A 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8612,A/0.1388;Gene=PLCL2/NM_001144382.1/0;CC=c.3008-309G>A;VC=Intron;Gene=PLCL2/NM_015184.5/1;CC=c.2641-309G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:5:5:0:0:3,2:82,30:8.17,0.00:8.17,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:63.0,104.0:0,0:0,0:63,120:87,14:0,17:NM_001144382.1(PLCL2) c.3019-309G>A,-:0.1,-:NOT_FOUND,- 3 17084442 . G . . NT END=17109447;NT GT ./. 3 17109339 rs3796299 C T 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7378,T/0.2622;Gene=PLCL2/NM_001144382.1/0;CC=c.3084-109C>T;VC=Intron;Gene=PLCL2/NM_015184.5/1;CC=c.2717-109C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:9,7:257,249:0.00,23.49:0.00,23.49:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:4.6,36.9:0,0:0,0:49,81:102,70:29,7:-,NM_001144382.1(PLCL2) c.3095-109C>T:-,0.26:-,NOT_FOUND 3 17109558 . G . . NT END=17131224;NT GT ./. 3 17131210 rs9822682 C A 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.8289,A/0.1711;Gene=PLCL2/NM_001144382.1/0;CC=c.3194-15C>A;VC=Intron;Gene=PLCL2/NM_015184.5/1;CC=c.2827-15C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:58:52:0:0:27,29,2:860,888,20:82.04,0.00,0.12:64.86,0.00,-0.03:17.18,0.00,0.15:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.0,5.0,104.0:0,0,0:0,0,0:54,47,72:91,103,76:27,23,57:NM_001144382.1(PLCL2) c.3205-15C>A,-:0.14,-:0.178072,- 3 17131811 . T . . NT END=17202454;NT GT ./. 3 17132005 rs11549705 A G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8744,G/0.1256;PC=0.608;Gene=PLCL2/NM_001144382.1/0;CC=c.*601A>G;VC=3UTR;Gene=PLCL2/NM_015184.5/1;CC=c.*601A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:9:0:0:0:5,4:159,119:0.00,11.12:0.00,0.00:0.00,11.12:0.00,0.85:0.00,0.00:0.00,0.85:60,60:10.8,33.2:0,0:0,0:124,77:26,74:11,19:-,NM_001144382.1(PLCL2) c.*601A>G:-,0.1:-,NOT_FOUND 3 17202334 rs13078644 A C 37 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.1446,C/0.8554;PC=0.051;Gene=TBC1D5/NM_001134381.1/1;CC=c.*121T>G;VC=3UTR;Gene=TBC1D5/NM_014744.2/0;CC=c.*121T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:23:0:0:11,12:351,378:0.00,36.62:0.00,36.62:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.5,37.2:0,0:0,0:23,54:128,94:23,33:-,NM_001134381.1(TBC1D5) c.*121T>G:-,0.82:-,NOT_FOUND 3 17202749 . C . . NT END=17208258;NT GT ./. 3 17208267 rs1138454 T C 223 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=T/0.7322,C/0.2678;Gene=TBC1D5/NM_001134381.1/1;CC=c.2152A>G;ProtCh=p.I718V;VC=Missense;Gene=TBC1D5/NM_014744.2/0;CC=c.2086A>G;ProtCh=p.I696V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:149:129:0:0:72,77:2333,2516:222.70,0.00:149.85,0.00:72.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,3.7:0,0:0,0:63,38:80,99:28,24:NM_001134381.1(TBC1D5) c.2152A>G (p.Ile718Val),-:0.26,-:0.344226,- 3 17208421 . C . . NT END=17209240;NT GT ./. 3 17209321 . C . . NT END=17226600;NT GT ./. 3 17226701 . C . . NT END=17255698;NT GT ./. 3 17255493 rs11398698 C CT 21 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4213,CT/0.5787;DB;DBA=NA;PAF=C/0.4213,CT/0.5787,CTT/.;NP=146;Gene=TBC1D5/NM_001134381.1/1;CC=c.1818+205dupA;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.1752+205dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,CT:7:8:7:0:1,6:34,228:0.00,21.01:0.00,21.01:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:58.0,21.0:0,1:0,0:23,28:128,122:0,12:-,NM_001134381.1(TBC1D5) c.1818+205_1818+206insA:-,NOT_FOUND:-,NOT_FOUND 3 17255863 . C . . NT END=17275176;NT GT ./. 3 17275173 rs2060628 G C 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7079,C/0.2921;PC=1.000;Gene=TBC1D5/NM_001134381.1/1;CC=c.1654+4C>G;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.1588+4482C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:15:0:0:13,10:419,302:41.25,0.00:20.12,0.00:21.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.2,14.9:0,0:0,0:67,56:84,83:11,11:NM_001134381.1(TBC1D5) c.1654+4C>G,-:0.3,-:0.437363,- 3 17275243 . C . . NT END=17279654;NT GT ./. 3 17279462 rs3839094 TA T 71 rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=TA/0.6937,T/0.3063;NP=193;Gene=TBC1D5/NM_001134381.1/1;CC=c.1588+192delT;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.1588+192delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:TA,T:23:23:0:21:2,21:65,639:0.00,70.96:0.00,70.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:33.0,33.4:0,0:0,0:35,61:114,90:30,47:-,NM_001134381.1(TBC1D5) c.1588+192delT:-,NOT_FOUND:-,NOT_FOUND 3 17279526 rs2060629 T C 108 nt VT=SNV;PN=A;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.7015,C/0.2985;Gene=TBC1D5/NM_001134381.1/1;CC=c.1588+129A>G;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.1588+129A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:41:0:0:32,10:1024,317:107.62,0.00:100.05,0.00:7.57,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:41.7,16.1:0,0:0,0:56,37:94,113:39,23:NM_001134381.1(TBC1D5) c.1588+129A>G,-:0.3,-:NOT_FOUND,- 3 17279912 . C . . NT END=17299997;NT GT ./. 3 17300084 . C . . NT END=17333386;NT GT ./. 3 17300133 rs2596647 A C 52 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6989,C/0.3011;PC=0.005;Gene=TBC1D5/NM_001134381.1/1;CC=c.1246-50T>G;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.1246-50T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:7:0:0:7,15:231,510:0.00,52.18:0.00,6.38:0.00,45.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,49.3:0,0:0,0:52,108:98,41:48,20:-,NM_001134381.1(TBC1D5) c.1246-50T>G:-,0.31:-,0.441801 3 17333494 . C . . NT END=17349483;NT GT ./. 3 17349627 . C . . NT END=17413566;NT GT ./. 3 17413531 rs60259858 A AAAACAAACAAACAAAC 54 nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.638,AAAAC/.,AAAACAAAC/0.02596,AAAACAAACAAAC/0.08227,AAAACAAACAAACAAAC/0.2538,AAAACAAACAAACAAACAAAC/.,AC/.;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=4;NP=575;PC=0.780;Gene=TBC1D5/NM_001134381.1/1;CC=c.995+35_995+36insGTTTGTTTGTTTGTTT;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.995+35_995+36insGTTTGTTTGTTTGTTT;VC=Intron;DM=TBC1D5/RabGAP-TBC;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AAAACAAACAAACAAAC:44:39:19:0:24,2,18:774,45,610:0.00,2.39,54.10:0.00,1.92,38.63:0.00,0.47,15.47:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.6,27.0,0.9:0,0,1:0,0,0:43,0,51:100,151,98:27,0,18:-,NM_001134381.1(TBC1D5) c.995+35_995+36insGTTTGTTTGTTTGTTT:-,NOT_FOUND:-,NOT_FOUND 3 17413740 . C . . NT END=17415962;NT GT ./. 3 17415705 rs17273020 C T 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.777,T/0.223;PC=0.011;Gene=TBC1D5/NM_001134381.1/1;CC=c.822+258G>A;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.822+258G>A;VC=Intron;DM=TBC1D5/RabGAP-TBC;DM=TBC1D5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:5:0:0:2,3:70,95:0.00,9.47:0.00,9.47:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,31.7:0,0:0,0:77,13:73,137:13,9:-,NM_001134381.1(TBC1D5) c.822+258G>A:-,0.23:-,NOT_FOUND 3 17416033 . C . . NT END=17416120;NT GT ./. 3 17416172 . C . . NT END=17418016;NT GT ./. 3 17418106 . C . . NT END=17425404;NT GT ./. 3 17425508 . C . . NT END=17444672;NT GT ./. 3 17425738 rs921052 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1725,C/.,G/0.8275;Gene=TBC1D5/NM_001134381.1/1;CC=c.510-231T>C;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.510-231T>C;VC=Intron;DM=TBC1D5/RabGAP-TBC;DM=TBC1D5/RabGAP-TBC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G:4:0:0:0:2,2:66,70:0.00,6.75:0.00,0.00:0.00,6.75:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,54.0:0,0:0,0:91,77:60,73:15,15:-,NM_001134381.1(TBC1D5) c.510-231T>C:-,0.78:-,NOT_FOUND 3 17444741 . C . . NT END=17446185;NT GT ./. 3 17446261 . C . . NT END=17446363;NT GT ./. 3 17446454 . C . . NT END=17447909;NT GT ./. 3 17448019 . C . . NT END=17469941;NT GT ./. 3 17469887 rs71634804 ATG A 26 rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=139;PC=0.217;Gene=TBC1D5/NM_001134381.1/1;CC=c.167+53_167+54delCA;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.167+53_167+54delCA;VC=Intron;DM=TBC1D5/RabGAP-TBC;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATG,A:31:30:0:10:22,9:652,330:0.00,25.89:0.00,18.45:0.00,7.44:0.00,0.99:0.00,1.00:0.00,0.92:60,60:13.4,13.6:0,1:0,0:62,44:87,106:44,29:-,NM_001134381.1(TBC1D5) c.167+53_167+54delCA:-,NOT_FOUND:-,NOT_FOUND 3 17470012 . C . . NT END=17549965;NT GT ./. 3 17470114 rs2121262 C T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5791,T/0.4209;Gene=TBC1D5/NM_001134381.1/1;CC=c.98-103G>A;VC=Intron;Gene=TBC1D5/NM_014744.2/0;CC=c.98-103G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:4:0:0:11,16:364,484:0.00,48.10:0.00,9.02:0.00,39.07:0.00,1.00:0.00,0.97:0.00,1.00:60,60:1.9,37.4:0,0:0,0:113,92:37,58:24,40:-,NM_001134381.1(TBC1D5) c.98-103G>A:-,0.39:-,NOT_FOUND 3 17550063 . T . . NT END=18004177;NT GT ./. 3 17747914 rs397758747 TAC T 15 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TAC/0.3708,T/0.6292;DB;DBA=NA;PAF=TAC/0.3708,T/0.6292;DB;DBA=NA;PAF=TAC/0.3708,T/0.6292;NP=378;Gene=TBC1D5/NM_014744.2/0;CC=c.-101+32919_-101+32920delGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:TAC,T:12:0:0:5:7,5:156,162:0.00,15.07:0.00,0.00:0.00,15.07:0.00,0.92:0.00,0.00:0.00,0.92:60,60:59.4,2.4:0,0:0,0:124,101:27,48:23,20:-,NM_001134381.1(TBC1D5) c.-264-u6404_-264-u6403delGT:-,NOT_FOUND:-,NOT_FOUND 3 17747931 rs372984197 A G 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8065,G/0.1935;NP=13;Gene=TBC1D5/NM_014744.2/0;CC=c.-101+32904T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:8:0:0:1:5,3:116,100:0.00,9.15:0.00,0.00:0.00,9.15:0.00,0.67:0.00,0.00:0.00,0.67:60,60:2.4,54.3:0,0:0,0:116,81:33,70:20,49:-,NM_001134381.1(TBC1D5) c.-264-u6419T>C:-,NOT_FOUND:-,NOT_FOUND 3 17804166 rs397806142 TAC T 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=265;PC=0.002;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TAC,T:4:4:0:2:2,2:68,68:0.00,6.55:0.00,3.28:0.00,3.28:0.00,0.51:0.00,0.51:0.00,0.51:60,70:0.0,16.0:0,0:0,0:88,55:58,54:9,6:-,chr3 g.17804167_17804168delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 18004187 . G . . NT END=18055146;NT GT ./. 3 18055267 . G . . NT END=18308509;NT GT ./. 3 18055549 rs11290043 AC A 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=18;PC=0.001;Gene=LOC339862/NM_001257177.1/1;CC=c.129+289delC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:AC,A:5:0:0:3:2,3:50,75:0.00,7.46:0.00,0.00:0.00,7.46:0.00,0.78:0.00,0.00:0.00,0.78:60,70:0.0,82.7:0,0:0,0:100,63:50,88:47,10:-,NM_001257177.1(LOC339862) c.129+284delC:-,NOT_FOUND:-,NOT_FOUND 3 18146517 rs145597578 GGT G 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=57;PC=0.176;Gene=LOC339862/NM_001257177.1/1;CC=c.316+63520_316+63521delTG;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:GGT,G:5:4:0:4:1,4:34,132:0.00,14.02:0.00,6.86:0.00,7.16:0.00,0.96:0.00,1.00:0.00,1.00:60,60:0.0,9.2:0,0:0,0:89,73:37,77:0,35:-,NM_001257177.1(LOC339862) c.316+63485_316+63486delGT:-,NOT_FOUND:-,NOT_FOUND 3 18308536 . A . . NT END=18390661;NT GT ./. 3 18391175 . c . . NT END=18392804;NT GT ./. 3 18391303 rs12492270 A T 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.4868,T/0.5132;Gene=SATB1/NM_001195470.1/0;CC=c.1876-129T>A;VC=Intron;Gene=SATB1/NM_002971.4/0;CC=c.1780-129T>A;VC=Intron;Gene=SATB1/NM_001131010.2/1;CC=c.1780-129T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:58:23:0:0:35,23:1166,702:0.00,64.23:0.00,18.27:0.00,45.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,47.6:0,0:0,0:101,113:49,38:28,20:-,NM_001131010.2(SATB1) c.1780-129T>A:-,0.57:-,NOT_FOUND 3 18392692 rs7627392 A C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3065,C/0.6935;Gene=SATB1/NM_001195470.1/0;CC=c.1875+113T>G;VC=Intron;Gene=SATB1/NM_002971.4/0;CC=c.1779+792T>G;VC=Intron;Gene=SATB1/NM_001131010.2/1;CC=c.1779+792T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:A,C:11:11:0:0:8,3:241,102:0.00,8.84:0.00,8.84:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:18.8,34.0:0,0:0,0:66,51:83,100:39,6:-,NM_001131010.2(SATB1) c.1779+792T>G:-,0.72:-,NOT_FOUND 3 18392819 rs116044839 C T 55 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.9553,T/0.04473;PC=0.818;Gene=SATB1/NM_001195470.1/0;CC=c.1861G>A;ProtCh=p.G621S;VC=Missense;Gene=SATB1/NM_002971.4/0;CC=c.1779+665G>A;VC=Intron;Gene=SATB1/NM_001131010.2/1;CC=c.1779+665G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:20:0:0:12,17:389,552:0.00,54.74:0.00,21.61:0.00,33.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,39.6:0,0:0,0:52,54:81,88:24,32:-,NM_001131010.2(SATB1) c.1779+665G>A:-,0.05:-,NOT_FOUND 3 18392901 . C . . NT END=18393483;NT GT ./. 3 18393688 . C . . NT END=18419661;NT GT ./. 3 18419411 rs9849722 T C 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3115,C/0.6885;PC=0.032;Gene=SATB1/NM_001195470.1/0;CC=c.1575+251A>G;VC=Intron;Gene=SATB1/NM_002971.4/0;CC=c.1575+251A>G;VC=Intron;Gene=SATB1/NM_001131010.2/1;CC=c.1575+251A>G;VC=Intron;DM=SATB1/CUT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,T:7:7:0:0:3,4:94,142:8.75,0.00:8.75,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:49.0,7.5:0,0:0,0:111,68:39,82:12,29:NM_001131010.2(SATB1) c.1575+251A>G,-:0.68,-:NOT_FOUND,- 3 18419553 rs9310557 C T 48 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.3115,T/0.6885;Gene=SATB1/NM_001195470.1/0;CC=c.1575+109G>A;VC=Intron;Gene=SATB1/NM_002971.4/0;CC=c.1575+109G>A;VC=Intron;Gene=SATB1/NM_001131010.2/1;CC=c.1575+109G>A;VC=Intron;DM=SATB1/CUT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:23:0:0:9,15:273,481:0.00,48.38:0.00,43.30:0.00,5.08:0.00,1.00:0.00,1.00:0.00,0.98:60,60:15.3,38.9:0,0:0,0:70,36:80,115:39,26:-,NM_001131010.2(SATB1) c.1575+109G>A:-,0.68:-,NOT_FOUND 3 18419818 . C . . NT END=18427890;NT GT ./. 3 18419859 rs10460976 G A 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.3117,A/0.6883;PC=0.001;Gene=SATB1/NM_001195470.1/0;CC=c.1420-42C>T;VC=Intron;Gene=SATB1/NM_002971.4/0;CC=c.1420-42C>T;VC=Intron;Gene=SATB1/NM_001131010.2/1;CC=c.1420-42C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:24:0:0:20,23:667,774:63.34,0.00:26.43,0.00:36.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,10.7:0,0:0,0:76,113:65,35:19,16:NM_001131010.2(SATB1) c.1420-42C>T,-:0.68,-:0.581116,- 3 18427924 rs2229261 G T 128 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.3109,A/.,T/0.6891;PC=0.849;Gene=SATB1/NM_001195470.1/0;CC=c.1386C>A;ProtCh=p.P462=;VC=Silent;Gene=SATB1/NM_002971.4/0;CC=c.1386C>A;ProtCh=p.P462=;VC=Silent;Gene=SATB1/NM_001131010.2/1;CC=c.1386C>A;ProtCh=p.P462=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:95:79:0:0:51,44:1560,1354:0.00,127.83:0.00,81.68:0.00,46.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,39.1:0,0:0,0:59,59:75,89:32,28:-,NM_001131010.2(SATB1) c.1386C>A (p.(=)):-,0.68:-,0.581116 3 18428104 . C . . NT END=18435953;NT GT ./. 3 18436409 . C . . NT END=18438670;NT GT ./. 3 18438783 . C . . NT END=18456602;NT GT ./. 3 18456727 . C . . NT END=18457498;NT GT ./. 3 18457626 . C . . NT END=18458393;NT GT ./. 3 18458571 . C . . NT END=18462248;NT GT ./. 3 18462460 . A . . NT END=18486104;NT GT ./. 3 18486135 . G . . NT END=18486690;NT GT ./. 3 18486173 rs62240975 G A 126 nt VT=SNV;PN=C;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.6641,A/0.3359;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:68:38:0:0:40,28:1268,952:125.85,0.00:45.29,0.00:80.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,9.9:0,0:0,0:109,93:37,56:26,31:NM_001131010.2(SATB1) c.-233-u5908C>T,-:0.32,-:NOT_FOUND,- 3 18486549 . C A 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;PC=0.131 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:17:16:0:0:8,8,1:264,235,7:25.39,0.00,0.01:25.67,0.00,0.03:-0.28,0.00,-0.03:0.99,0.00,0.00:1.00,0.00,0.00:0.65,0.00,0.00:60,60,60:36.1,12.2,44.0:0,0,0:0,0,0:25,19,96:125,132,31:13,12,0:NM_001131010.2(SATB1) c.-233-u6284G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 18486935 . G . . NT END=18504971;NT GT ./. 3 18487158 rs7645355 G C 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5044,C/0.4956;Gene=SATB1-AS1/NR_125803.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:0:0:0:9,14:243,441:21.89,0.00:0.00,0.00:21.89,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:58.7,22.1:0,0:0,0:104,97:46,51:25,17:NM_001131010.2(SATB1) c.-233-u6893C>G,-:0.48,-:NOT_FOUND,- 3 18505038 . G . . NT END=18505778;NT GT ./. 3 18505832 . G . . NT END=19190211;NT GT ./. 3 18580231 rs17044591 G A 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8275,A/0.1725;PC=0.804 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:A,G:11:10:0:0:4,7:121,223:10.88,0.00:11.27,0.00:-0.39,0.00:0.82,0.00:0.98,0.00:0.76,0.00:60,60:30.2,23.3:0,0:0,0:64,56:87,95:52,25:chr3 g.18580230G>A (intergenic),-:0.18,-:NOT_FOUND,- 3 18770142 . TTG T 9 rn VT=DEL;SST=Single;DP=8;PC=0.213;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:TTG,T:8:7:0:3:5,3:157,95:0.00,8.63:0.00,4.11:0.00,4.52:0.00,0.67:0.00,0.95:0.00,0.90:60,60:2.0,19.0:0,0:0,0:119,22:26,121:18,2:-,chr3 g.18770143_18770144delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 18931135 rs4510397 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2388,T/0.7612 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,T:4:4:0:0:2,2:49,69:0.00,6.65:0.00,3.03:0.00,3.63:0.00,0.51:0.00,0.51:0.00,0.79:60,70:5.0,69.0:0,0:0,0:9,76:140,69:7,7:-,chr3 g.18931134C>T (intergenic):-,0.74:-,NOT_FOUND 3 18931171 rs58984896 C T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4046,T/0.5954;NP=64;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,T:5:2:0:0:2,3:61,101:0.00,10.07:0.00,-0.79:0.00,10.86:0.00,0.78:0.00,0.87:0.00,0.94:60,70:5.0,56.7:0,2:0,0:45,107:104,44:7,15:-,chr3 g.18931170C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 19190241 rs34370450 G C 89 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.9421,A/.,C/0.05791;PC=0.162;Gene=KCNH8/NM_144633.2/1;CC=c.30G>C;ProtCh=p.P10=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:83:68:0:0:1,31,51:9,980,1701:-0.17,89.16,0.00:-0.15,51.68,0.00:-0.02,37.47,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:88.0,33.5,2.0:0,0,0:0,0,0:100,69,75:49,62,75:0,25,26:NM_144633.2(KCNH8) c.30G>C (p.(=)),-:0.07,-:0.11241,- 3 19190288 . G . . NT END=19295145;NT GT ./. 3 19295380 . G . . NT END=19322689;NT GT ./. 3 19317667 rs397797094 A ATG 19 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=265;NP=3;PC=0.003;Gene=KCNH8/NM_144633.2/1;CC=c.311-4986_311-4985insGT;VC=Intron;DM=KCNH8/PAS_9;DM=KCNH8/PAS_9;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,ATG:9:8:6:0:3,6:101,187:0.00,19.07:0.00,12.36:0.00,6.71:0.00,0.99:0.00,1.00:0.00,0.99:60,70:0.0,38.7:0,0:0,0:115,60:36,91:3,25:-,NM_144633.2(KCNH8) c.311-5023_311-5022insTG:-,NOT_FOUND:-,NOT_FOUND 3 19322822 . G . . NT END=19384078;NT GT ./. 3 19384207 . G . . NT END=19389216;NT GT ./. 3 19389074 rs6551230 G A 35 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.134,A/0.866;Gene=KCNH8/NM_144633.2/1;CC=c.571-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:20:0:0:11,10:365,263:35.48,0.00:36.12,0.00:-0.64,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:34.1,12.3:0,0:0,0:70,19:81,131:45,12:NM_144633.2(KCNH8) c.571-143G>A,-:0.85,-:NOT_FOUND,- 3 19389458 . G . . NT END=19431972;NT GT ./. 3 19432131 . G . . NT END=19436595;NT GT ./. 3 19436577 rs138407554 GCT G 60 nt VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=GCT/0.9952,G/0.004792;NP=65;Gene=KCNH8/NM_144633.2/1;CC=c.970-16_970-15delCT;VC=Intron;DM=KCNH8/Ion_trans;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCT,G:40:39:0:20:21,19:693,627:0.00,59.75:0.00,53.79:0.00,5.96:0.00,1.00:0.00,1.00:0.00,0.99:60,60:36.0,36.2:0,0:0,0:48,60:101,91:28,22:-,NM_144633.2(KCNH8) c.970-18_970-17delCT:-,0.01:-,0.007109 3 19436587 rs10470642 T C 162 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.2528,C/0.7472;Gene=KCNH8/NM_144633.2/1;CC=c.970-9T>C;VC=Intron;DM=KCNH8/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:44:0:0:45:1406:161.96:140.04:21.92:1.00:1.00:1.00:60:36.0:0:0:46:101:28:NM_144633.2(KCNH8) c.970-9T>C,NM_144633.2(KCNH8) c.970-9T>C:0.75,0.75:0.778794,0.778794 3 19436804 . G . . NT END=19479655;NT GT ./. 3 19479854 . G . . NT END=19490419;NT GT ./. 3 19490504 . G . . NT END=19491597;NT GT ./. 3 19491459 rs78346521 T C 30 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.9683,C/0.03175;Gene=KCNH8/NM_144633.2/1;CC=c.1376-139T>C;VC=Intron;DM=KCNH8/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:19:19:0:0:10,9:312,283:30.21,0.00:30.21,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.4,9.4:0,0:0,0:72,71:78,80:25,7:NM_144633.2(KCNH8) c.1376-139T>C,-:0.05,-:NOT_FOUND,- 3 19491798 . G . . NT END=19492646;NT GT ./. 3 19492897 . G . . NT END=19498259;NT GT ./. 3 19498475 . G . . NT END=19551854;NT GT ./. 3 19513687 . CGTGTGT C 10 rn VT=DEL;SST=Single;DP=5;PC=0.002;Gene=KCNH8/NM_144633.2/1;CC=c.2040+15260_2040+15265delGTGTGT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CGTGTGT,C:5:5:0:5:2,3:70,99:0.00,9.87:0.00,8.29:0.00,1.58:0.00,0.78:0.00,0.78:0.00,0.87:60,60:16.5,9.7:0,0:0,0:69,33:46,100:2,23:-,NM_144633.2(KCNH8) c.2040+15214_2040+15219delGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 19551894 . G . . NT END=19554461;NT GT ./. 3 19554818 . G . . NT END=19556813;NT GT ./. 3 19554848 rs114214436 G A 69 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.9882,A/0.01178,C/.;Gene=KCNH8/NM_144633.2/1;CC=c.2435+31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:24:0:0:23,23:722,746:69.28,0.00:23.51,0.00:45.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,10.1:0,0:0,0:99,93:50,55:27,23:NM_144633.2(KCNH8) c.2435+31G>A,-:0.02,-:0.019068,- 3 19556921 . G . . NT END=19559489;NT GT ./. 3 19556990 rs56353870 AT A 17 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AT/0.1234,A/0.8766;DB;DBA=NA;PAF=AT/0.1234,A/0.8766;NP=473;Gene=KCNH8/NM_144633.2/1;CC=c.2542+83delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:AT,A:6:2:0:6:1,5:34,186:0.00,16.61:0.00,3.53:0.00,13.08:0.00,0.98:0.00,0.93:0.00,0.98:60,60:0.0,23.8:0,1:0,0:99,109:52,42:0,10:-,NM_144633.2(KCNH8) c.2542+71delT:-,NOT_FOUND:-,NOT_FOUND 3 19559567 . G . . NT END=19574886;NT GT ./. 3 19575592 . T . . NT END=19921122;NT GT ./. 3 19921297 . C . . NT END=19924041;NT GT ./. 3 19924224 . C . . NT END=19925894;NT GT ./. 3 19924372 rs58853219 A AC 32 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6038,AC/0.3962;NP=420;Gene=EFHB/NM_144715.3/1;CC=c.2147-150_2147-149insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AC:18:0:11:0:7,11:202,321:0.00,32.14:0.00,0.00:0.00,32.14:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.4,14.1:1,0:0,0:107,113:44,35:42,17:-,NM_144715.3(EFHB) c.2147-150_2147-149insG:-,0.37:-,NOT_FOUND 3 19925807 rs9882578 A G 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.6034,G/0.3966;Gene=EFHB/NM_144715.3/1;CC=c.2146+88T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:27:26:0:0:14,12,1:456,396,10:0.00,37.52,0.06:0.00,34.50,0.06:0.00,3.02,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.63,0.00:60,60,60:9.4,54.8,69.0:0,0,0:0,0,0:46,42,121:104,109,29:21,15,0:-,NM_144715.3(EFHB) c.2146+88T>C:-,0.37:-,NOT_FOUND 3 19926108 . C . . NT END=19929935;NT GT ./. 3 19930003 rs4858714 G A 92 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.7682,A/0.2318;PC=1.000;Gene=EFHB/NM_144715.3/1;CC=c.1866C>T;ProtCh=p.F622=;VC=Silent;DM=EFHB/EF-hand_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:61:0:0:30,42:986,1279:91.77,0.00:63.16,0.00:28.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,16.0:0,0:0,0:90,71:55,78:22,33:NM_144715.3(EFHB) c.1866C>T (p.(=)),-:0.23,-:0.311942,- 3 19930144 . C . . NT END=19938178;NT GT ./. 3 19938334 . C . . NT END=19940269;NT GT ./. 3 19940338 . C . . NT END=19940923;NT GT ./. 3 19940877 rs2931385 A G 86 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6236,G/0.3764;PC=0.217;Gene=EFHB/NM_144715.3/1;CC=c.1502+47T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:29:0:0:9,24:300,827:0.00,85.75:0.00,74.51:0.00,11.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.2,36.0:0,0:0,0:52,40:99,108:29,31:-,NM_144715.3(EFHB) c.1502+47T>C:-,0.35:-,0.440148 3 19941008 . C . . NT END=19947111;NT GT ./. 3 19941074 rs2931386 A G 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.6234,G/0.3766;Gene=EFHB/NM_144715.3/1;CC=c.1419-67T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:32:9:0:0:14,18:467,606:0.00,59.66:0.00,8.39:0.00,51.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,35.6:0,0:0,0:90,110:59,39:26,34:-,NM_144715.3(EFHB) c.1419-67T>C:-,0.35:-,NOT_FOUND 3 19946992 rs2931394 G A 84 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3361,A/0.6639;Gene=EFHB/NM_144715.3/1;CC=c.1418+120C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:23:0:0:23:729:83.86:83.86:0.00:1.00:1.00:0.00:60:59.4:0:0:72:78:29:NM_144715.3(EFHB) c.1418+120C>T,NM_144715.3(EFHB) c.1418+120C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 3 19947105 rs66526230 A C 75 nt VT=SNV;PN=A;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.8546,C/0.1454;PC=0.826;Gene=EFHB/NM_144715.3/1;CC=c.1418+7T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:58:51:0:0:33,24,1:1044,807,10:0.00,75.31,-0.09:0.00,48.88,-0.03:0.00,26.43,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.4,45.0,122.0:0,0,0:0,0,0:45,49,65:93,100,85:31,23,0:-,NM_144715.3(EFHB) c.1418+7T>G:-,0.17:-,0.234507 3 19947242 . C . . NT END=19956794;NT GT ./. 3 19947296 rs2929377 T C 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.6591,C/0.3409;Gene=EFHB/NM_144715.3/1;CC=c.1289-55A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:56:25:0:0:27,29:828,938:78.83,0.00:32.97,0.00:45.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.0,7.0:0,0:0,0:101,98:46,50:34,23:NM_144715.3(EFHB) c.1289-55A>G,-:0.32,-:NOT_FOUND,- 3 19956906 . C . . NT END=19959723;NT GT ./. 3 19956995 rs62279138 G A 18 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.8936,A/0.1064;Gene=EFHB/NM_144715.3/1;CC=c.1178-90C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,G:19:0:0:0:6,13:200,433:17.72,0.00:0.00,0.00:17.72,0.00:0.94,0.00:0.00,0.00:0.94,0.00:60,60:45.7,6.3:0,0:0,0:116,125:34,26:15,18:NM_144715.3(EFHB) c.1178-90C>T,-:0.13,-:NOT_FOUND,- 3 19959756 rs2929366 G A 117 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.387,A/0.613;Gene=EFHB/NM_144715.3/1;CC=c.1145C>T;ProtCh=p.T382I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:76:59:0:0:41,32,3:1193,1021,30:116.87,0.00,0.38:76.59,0.00,0.65:40.29,0.00,-0.27:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.1,13.9,97.0:0,0,0:0,0,0:64,43,105:76,94,46:31,30,13:NM_144715.3(EFHB) c.1145C>T (p.Thr382Ile),-:0.58,-:0.712825,- 3 19959905 . C . . NT END=19961324;NT GT ./. 3 19961330 rs2931403 C T 174 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.3275,T/0.6725;Gene=EFHB/NM_144715.3/1;CC=c.991G>A;ProtCh=p.V331I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:T:47:38:0:0:47:1515:173.89:113.36:60.53:1.00:1.00:1.00:60:38.8:0:0:42:92:32:NM_144715.3(EFHB) c.991G>A (p.Val331Ile),NM_144715.3(EFHB) c.991G>A (p.Val331Ile):0.62,0.62:0.784066,0.784066 3 19961469 . C . . NT END=19961996;NT GT ./. 3 19962060 . C . . NT END=19974721;NT GT ./. 3 19974700 rs2929350 T C 115 nt VT=SNV;PN=A;NN=G;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.4435,C/0.5565;Gene=EFHB/NM_144715.3/1;CC=c.789+22A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:78:71:0:0:37,41:1208,1235:115.08,0.00:85.38,0.00:29.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,15.3:0,0:0,0:38,62:103,88:27,32:NM_144715.3(EFHB) c.789+22A>G,-:0.54,-:0.645955,- 3 19975139 rs17180771 C T 209 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.8946,T/0.1054;Gene=EFHB/NM_144715.3/1;CC=c.372G>A;ProtCh=p.R124=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:159:87:0:0:87,1,71:2775,12,2225:0.00,-0.13,209.14:0.00,0.01,87.39:0.00,-0.14,121.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.9,54.0,41.4:0,0,0:0,0,0:78,133,70:70,18,63:33,0,41:-,NM_144715.3(EFHB) c.372G>A (p.(=)):-,0.12:-,0.172065 3 19975582 rs2929349 A G 227 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=158;DB;DBA=NA;PAF=A/0.4866,G/0.5134;PC=0.002;Gene=EFHB/NM_144715.3/1;CC=c.-72T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:158:99:0:0:84,74:2776,2396:0.00,227.37:0.00,114.27:0.00,113.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,38.4:0,0:0,0:58,73:87,67:32,37:-,NM_144715.3(EFHB) c.-72T>C:-,0.5:-,NOT_FOUND 3 19975707 . T . . NT END=19977632;NT GT ./. 3 19975883 rs63724960 GC G 21 rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=473;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:17:0:0:8:9,8:269,223:0.00,21.01:0.00,0.00:0.00,21.01:0.00,0.99:0.00,0.00:0.00,0.99:60,60:14.0,31.0:0,0:0,0:78,118:70,29:32,16:-,NM_144715.3(EFHB) c.-196-u178delG:-,0.54:-,NOT_FOUND 3 19975932 rs67964875 C CCTCTCT 9 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.4389,CCTCT/.,CCTCTCT/0.5611;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4389,CCTCTCT/0.5611;NP=5;NP=75;PC=0.005;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,CCTCTCT:11:0:4:0:7,4:220,103:0.00,9.07:0.00,0.00:0.00,9.07:0.00,0.82:0.00,0.00:0.00,0.82:60,60:6.0,53.2:0,0:0,0:95,106:56,43:38,14:-,NM_144715.3(EFHB) c.-196-u227_-196-u226insAGAGAG:-,NOT_FOUND:-,NOT_FOUND 3 19977357 rs57808479 C G 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4872,G/0.5128;PC=0.860 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,G:6:6:0:0:1,5:34,162:0.00,17.41:0.00,17.41:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:21.0,32.4:0,0:0,0:37,54:114,95:0,45:-,NM_144715.3(EFHB) c.-196-u1651G>C:-,0.5:-,NOT_FOUND 3 19977483 rs63114260 AGAGT A 21 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=AGAGT/0.4874,A/0.5126;DB;DBA=NA;PAF=AGAGT/0.4874,A/0.5126;NP=313;PC=0.030;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGAGT,A:13:13:0:7:6,7:205,218:0.00,21.24:0.00,21.24:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:26.2,21.1:0,0:0,0:76,64:75,84:29,44:-,NM_144715.3(EFHB) c.-196-u1781_-196-u1778delACTC:-,0.46:-,NOT_FOUND 3 19977500 . C CA 15 idl,rn VT=INS;SST=Single;DP=17;NP=1;PC=0.413;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,CA,D:15:17:6:2:9,5,1:266,197,65:0.00,14.77,2.31:0.00,14.77,2.31:0.00,0.00,0.00:0.00,0.88,0.00:0.00,0.88,0.00:0.00,0.00,0.00:60,60,60:20.9,36.8,53.0:0,1,1:0,0,0:97,29,61:31,121,79:43,11,28:-,NM_144715.3(EFHB) c.-196-u1795_-196-u1794insT:-,NOT_FOUND:-,NOT_FOUND 3 19977636 . t . . NT END=19992390;NT GT ./. 3 19992312 rs11717172 A G 79 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.9287,G/0.07129;PC=0.938;Gene=RAB5A/NM_001292048.1/1;CC=c.-79A>G;VC=5UTR;Gene=RAB5A/NM_004162.4/0;CC=c.-79A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:41:0:0:17,28:562,791:0.00,79.43:0.00,65.40:0.00,14.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.4,47.0:0,0:0,0:35,37:112,111:23,18:-,NM_004162.4(RAB5A) c.-79A>G:-,0.09:-,NOT_FOUND 3 19992432 rs6773437 G T 334 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.3844,A/.,T/0.6156;PC=1.000;Gene=RAB5A/NM_001292048.1/1;CC=c.42G>T;ProtCh=p.T14=;VC=Silent;Gene=RAB5A/NM_004162.4/0;CC=c.42G>T;ProtCh=p.T14=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:88:64:0:0:88:2921:333.95:194.71:139.23:1.00:1.00:1.00:60:42.3:0:0:69:81:30:NM_004162.4(RAB5A) c.42G>T (p.(=)),NM_004162.4(RAB5A) c.42G>T (p.(=)):0.6,0.6:0.756651,0.756651 3 19992554 . G . . NT END=20017092;NT GT ./. 3 19992588 rs10510496 G A 92 nt VT=SNV;PN=C;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.9177,A/0.08227;Gene=RAB5A/NM_001292048.1/1;CC=c.163+35G>A;VC=Intron;Gene=RAB5A/NM_004162.4/0;CC=c.163+35G>A;VC=Intron;DM=RAB5A/Ras;DM=RAB5A/Ras;DM=RAB5A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:16:0:0:31,31:958,1044:91.87,0.00:8.84,0.00:83.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,6.4:0,0:0,0:95,104:56,42:37,35:NM_004162.4(RAB5A) c.163+35G>A,-:0.1,-:0.171459,- 3 20012899 rs67506735 C CT 17 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3842,CT/0.6158;DB;DBA=NA;PAF=C/0.3842,CT/0.6158;NP=4;PC=0.027;Gene=RAB5A/NM_001292048.1/1;CC=c.164-4232dupT;VC=Intron;Gene=RAB5A/NM_004162.4/0;CC=c.164-4190dupT;VC=Intron;DM=RAB5A/Ras;DM=RAB5A/Ras;DM=RAB5A/Ras;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CT:5:5:5:0:5:144:16.78:14.84:1.94:1.00:1.00:1.00:60:11.8:0:0:64:80:41:NM_004162.4(RAB5A) c.164-4194_164-4193insT,NM_004162.4(RAB5A) c.164-4194_164-4193insT:0.59,0.59:NOT_FOUND,NOT_FOUND 3 20017245 . G . . NT END=20017538;NT GT ./. 3 20017388 rs140496148 T TA 37 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9195,TA/0.08047;NP=436;Gene=RAB5A/NM_001292048.1/1;CC=c.274-142dupA;VC=Intron;Gene=RAB5A/NM_004162.4/0;CC=c.316-142dupA;VC=Intron;DM=RAB5A/Ras;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:24:12:13:0:11,13:317,377:0.00,36.72:0.00,20.07:0.00,16.65:0.00,1.00:0.00,1.00:0.00,1.00:60,70:23.2,49.4:1,0:0,0:140,61:11,90:8,32:-,NM_004162.4(RAB5A) c.315+144_315+145insA:-,NOT_FOUND:-,NOT_FOUND 3 20017489 rs4858122 G C 124 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.3846,C/0.6154,T/.;Gene=RAB5A/NM_001292048.1/1;CC=c.274-50G>C;VC=Intron;Gene=RAB5A/NM_004162.4/0;CC=c.316-50G>C;VC=Intron;DM=RAB5A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:22:0:0:32:1090:124.26:76.30:47.96:1.00:1.00:1.00:70:72.8:0:0:52:97:35:NM_004162.4(RAB5A) c.316-50G>C,NM_004162.4(RAB5A) c.316-50G>C:0.55,0.55:0.757152,0.757152 3 20017490 rs4858121 G C 115 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.6242,C/0.3758;Gene=RAB5A/NM_001292048.1/1;CC=c.274-49G>C;VC=Intron;Gene=RAB5A/NM_004162.4/0;CC=c.316-49G>C;VC=Intron;DM=RAB5A/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:22:0:0:32:1001:115.28:71.08:44.20:1.00:1.00:1.00:60:73.1:0:0:39:111:24:NM_004162.4(RAB5A) c.316-49G>C,NM_004162.4(RAB5A) c.316-49G>C:0.35,0.35:0.546901,0.546901 3 20017662 . G . . NT END=20019801;NT GT ./. 3 20019896 . G . . NT END=20025199;NT GT ./. 3 20025316 . A . . NT END=20026871;NT GT ./. 3 20027675 . C . . NT END=20042521;NT GT ./. 3 20027769 rs12486526 A G 52 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.8764,G/0.1236;Gene=PP2D1/NR_027694.1/0;VC=NonCoding;Gene=PP2D1/NM_001252657.1/1;CC=c.1091-95T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:3:0:0:18,18:555,538:0.00,51.51:0.00,3.48:0.00,48.04:0.00,1.00:0.00,0.89:0.00,1.00:60,60:3.7,37.5:0,0:0,0:98,114:53,36:25,17:-,NM_001252657.1(PP2D1) c.1091-95T>C:-,0.14:-,NOT_FOUND 3 20042834 rs4103004 C T 81 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.7077,T/0.2923;PC=0.934;Gene=PP2D1/NR_027694.1/0;VC=NonCoding;Gene=PP2D1/NM_001252657.1/1;CC=c.778G>A;ProtCh=p.A260T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:51:0:0:52,29:1593,904:0.00,81.32:0.00,37.95:0.00,43.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.0,43.1:0,0:0,0:85,64:59,86:38,34:-,NM_001252657.1(PP2D1) c.778G>A (p.Ala260Thr):-,0.3:-,NOT_FOUND 3 20043502 rs9882323 C T 136 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.9091,T/0.09085;Gene=PP2D1/NR_027694.1/0;VC=NonCoding;Gene=PP2D1/NM_001252657.1/1;CC=c.110G>A;ProtCh=p.R37H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:45:0:0:40,43:1290,1405:0.00,136.05:0.00,53.98:0.00,82.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,65.5:0,0:0,0:82,89:63,62:39,33:-,NM_001252657.1(PP2D1) c.110G>A (p.Arg37His):-,0.11:-,NOT_FOUND 3 20043531 rs9882344 C T 135 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.9062,T/0.09385;Gene=PP2D1/NR_027694.1/0;VC=NonCoding;Gene=PP2D1/NM_001252657.1/1;CC=c.81G>A;ProtCh=p.E27=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:79:42:0:0:36,43:1160,1378:0.00,134.62:0.00,50.20:0.00,84.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,62.8:0,0:0,0:72,79:73,69:30,53:-,NM_001252657.1(PP2D1) c.81G>A (p.(=)):-,0.12:-,NOT_FOUND 3 20043589 . C . . NT END=20053541;NT GT ./. 3 20043793 rs55797296 A G 32 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9071,G/0.09285;Gene=PP2D1/NR_027694.1/0;VC=NonCoding;Gene=PP2D1/NM_001252657.1/1;CC=c.24-205T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:A,G:13:0:0:0:3,10:97,299:0.00,31.58:0.00,0.00:0.00,31.58:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,29.9:0,0:0,0:114,78:37,71:3,19:-,NM_001252657.1(PP2D1) c.24-205T>C:-,0.11:-,NOT_FOUND 3 20053565 . G . . NT END=20081969;NT GT ./. 3 20053676 rs6802632 T C 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8936,C/0.1064;Gene=PP2D1/NR_027694.1/0;VC=NonCoding;Gene=PP2D1/NM_001252657.1/1;CC=c.-112A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:6:0:0:13,10:388,319:38.16,0.00:12.67,0.00:25.49,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:32.0,24.7:0,0:0,0:113,117:38,33:27,27:NM_001252657.1(PP2D1) c.-112A>G,-:0.12,-:NOT_FOUND,- 3 20053812 rs62241337 T C 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.9083,C/0.09165;PC=0.701 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:C,T:12:1:0:0:4,8:122,244:10.80,0.00:-0.18,0.00:10.97,0.00:0.80,0.00:0.56,0.00:0.98,0.00:60,60:30.5,5.6:0,0:0,0:90,96:59,54:14,38:NM_001252657.1(PP2D1) c.-201-u47A>G,-:0.11,-:NOT_FOUND,- 3 20082274 . T . . NT END=20113824;NT GT ./. 3 20113830 rs3021408 G A 249 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.5335,A/0.4665;PC=1.000;Gene=KAT2B/NM_003884.4/1;CC=c.309G>A;ProtCh=p.E103=;VC=Silent;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:67:53:0:0:67:2169:248.75:151.39:97.35:1.00:1.00:1.00:60:41.5:0:0:58:83:32:NM_003884.4(KAT2B) c.309G>A (p.(=)),NM_003884.4(KAT2B) c.309G>A (p.(=)):0.44,0.44:0.411349,0.411349 3 20113953 . T . . NT END=20136754;NT GT ./. 3 20113989 rs3749180 C A 145 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.5335,A/0.4665,T/.;Gene=KAT2B/NM_003884.4/1;CC=c.430+38C>A;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A,C:42:16:0:0:41,1:1278,21:145.23,0.00:45.93,0.00:99.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:68.4,172.0:0,0:0,0:94,12:51,139:40,0:NM_003884.4(KAT2B) c.430+38C>A,NM_003884.4(KAT2B) c.430+38C>A:0.44,0.44:0.411118,0.411118 3 20114044 rs3828349 T C 95 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.5184,C/0.4816;Gene=KAT2B/NM_003884.4/1;CC=c.430+93T>C;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:3:0:0:28:823:95.47:7.30:88.17:1.00:1.00:1.00:60:93.8:0:0:91:59:31:NM_003884.4(KAT2B) c.430+93T>C,NM_003884.4(KAT2B) c.430+93T>C:0.45,0.45:NOT_FOUND,NOT_FOUND 3 20114048 rs3828348 G A 95 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5335,A/0.4665;Gene=KAT2B/NM_003884.4/1;CC=c.430+97G>A;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:1:0:0:27:820:94.68:1.94:92.74:1.00:1.00:1.00:60:93.6:0:0:71:80:36:NM_003884.4(KAT2B) c.430+97G>A,NM_003884.4(KAT2B) c.430+97G>A:0.44,0.44:NOT_FOUND,NOT_FOUND 3 20136611 rs2293140 C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5064,T/0.4936;Gene=KAT2B/NM_003884.4/1;CC=c.431-144C>T;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,T:8:8:0:0:5,3:144,85:0.00,7.64:0.00,7.64:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:16.2,95.0:0,0:0,0:21,33:130,118:19,30:-,NM_003884.4(KAT2B) c.431-144C>T:-,0.44:-,NOT_FOUND 3 20136645 rs2293141 A T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5062,T/0.4938;Gene=KAT2B/NM_003884.4/1;CC=c.431-110A>T;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:A,T:12:12:0:0:7,5:212,140:0.00,12.81:0.00,12.93:0.00,-0.12:0.00,0.92:0.00,0.92:0.00,0.61:60,60:27.9,86.4:0,0:0,0:54,36:96,115:24,31:-,NM_003884.4(KAT2B) c.431-110A>T:-,0.44:-,NOT_FOUND 3 20136683 rs2293142 T G 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6813,G/0.3187;PC=0.005;Gene=KAT2B/NM_003884.4/1;CC=c.431-72T>G;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:23:21:0:0:11,12:299,368:28.08,0.00:23.58,0.00:4.50,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:57.9,16.4:0,0:0,0:30,40:119,87:13,30:NM_003884.4(KAT2B) c.431-72T>G,-:0.26,-:NOT_FOUND,- 3 20136902 . T . . NT END=20141353;NT GT ./. 3 20141301 rs11128939 T G 28 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=KAT2B/NM_003884.4/1;CC=c.577-53T>G;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:G,T:13:12:0:0:8,5:282,150:28.26,0.00:27.20,0.00:1.06,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:35.2,11.0:0,0:0,0:52,48:98,92:22,21:NM_003884.4(KAT2B) c.577-53T>G,-:0.51,-:0.457199,- 3 20141448 . t . . NT END=20142778;NT GT ./. 3 20141522 rs13323791 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.6665,G/0.3335;PC=0.004;Gene=KAT2B/NM_003884.4/1;CC=c.669+76A>G;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:A,G:10:1:0:0:4,6:135,206:0.00,20.54:0.00,-0.20:0.00,20.74:0.00,0.99:0.00,0.73:0.00,0.99:60,60:0.0,36.0:0,0:0,0:105,75:45,75:24,23:-,NM_003884.4(KAT2B) c.669+76A>G:-,0.28:-,NOT_FOUND 3 20142666 rs11714203 T C 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.9419,C/0.05811;PC=0.713;Gene=KAT2B/NM_003884.4/1;CC=c.670-113T>C;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:116:C,T:14:13:0:0:9,5:286,121:28.94,0.00:23.36,0.00:5.58,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:60.0,13.2:0,0:0,0:70,62:81,88:55,14:NM_003884.4(KAT2B) c.670-113T>C,-:0.07,-:NOT_FOUND,- 3 20142962 . T . . NT END=20153087;NT GT ./. 3 20143020 rs4858155 G C 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.3171,C/0.6829;PC=0.002;Gene=KAT2B/NM_003884.4/1;CC=c.851+60G>C;VC=Intron;DM=KAT2B/PCAF_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:5:0:0:8,17:280,566:25.01,0.00:5.11,0.00:19.90,0.00:0.99,0.00:0.84,0.00:0.99,0.00:60,60:37.2,13.6:0,0:0,0:108,100:41,46:19,18:NM_003884.4(KAT2B) c.851+60G>C,-:0.64,-:NOT_FOUND,- 3 20153281 . T . . NT END=20156373;NT GT ./. 3 20153394 rs2365793 G A 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.9503,A/0.04972;PC=0.003;Gene=KAT2B/NM_003884.4/1;CC=c.1043+115G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:17:1:0:0:8,9:248,267:23.51,0.00:3.55,0.00:19.96,0.00:0.99,0.00:0.65,0.00:1.00,0.00:60,60:54.5,9.6:0,0:0,0:84,90:66,59:40,22:NM_003884.4(KAT2B) c.1043+115G>A,-:0.06,-:NOT_FOUND,- 3 20156302 rs2365794 T C 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3157,C/0.6843;Gene=KAT2B/NM_003884.4/1;CC=c.1044-72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:6:6:0:0:3,3:101,98:9.73,0.00:9.88,0.00:-0.15,0.00:0.73,0.00:0.73,0.00:0.67,0.00:60,60:44.0,7.3:0,0:0,0:24,10:127,141:5,3:NM_003884.4(KAT2B) c.1044-72T>C,-:0.64,-:NOT_FOUND,- 3 20156482 . T . . NT END=20161089;NT GT ./. 3 20161217 . T . . NT END=20164159;NT GT ./. 3 20164467 . T . . NT END=20167396;NT GT ./. 3 20164616 rs7624514 G T 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1132,T/0.8868;Gene=KAT2B/NM_003884.4/1;CC=c.1413+320G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:0:0:0:9:292:33.49:0.00:33.49:1.00:0.00:1.00:60:41.4:0:0:121:30:10:NM_003884.4(KAT2B) c.1413+320G>T,NM_003884.4(KAT2B) c.1413+320G>T:0.87,0.87:NOT_FOUND,NOT_FOUND 3 20167606 . G . . NT END=20168914;NT GT ./. 3 20169042 . G . . NT END=20178433;NT GT ./. 3 20178545 . G . . NT END=20181712;NT GT ./. 3 20181857 . G . . NT END=20187807;NT GT ./. 3 20187923 . G . . NT END=20189454;NT GT ./. 3 20188008 rs2686315 C T 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.9591,T/0.04093;Gene=KAT2B/NM_003884.4/1;CC=c.2119+86C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:11:0:0:0:4,7:99,237:0.00,24.01:0.00,0.00:0.00,24.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.0,41.9:0,0:0,0:116,98:34,53:18,26:-,NM_003884.4(KAT2B) c.2119+86C>T:-,0.05:-,NOT_FOUND 3 20189492 . G . . NT END=20189734;NT GT ./. 3 20189528 rs60728324 A AT 48 idl,rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;NP=2;NP=73;PC=0.001;Gene=KAT2B/NM_003884.4/1;CC=c.2156+48dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT,D:46:34:19:2:26,18,2:847,557,64:0.00,48.02,4.13:0.00,27.14,0.90:0.00,20.88,3.23:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.7,16.6,0.0:1,1,0:0,0,0:109,89,117:32,52,33:27,27,15:-,NM_003884.4(KAT2B) c.2156+37_2156+38insT:-,NOT_FOUND:-,NOT_FOUND 3 20189799 . G . . NT END=20189894;NT GT ./. 3 20189980 . G . . NT END=20193823;NT GT ./. 3 20194018 . T . . NT END=20210389;NT GT ./. 3 20211227 rs79346940 T C 73 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.9575,C/0.04253;Gene=SGOL1/NM_001012410.4/0;CC=c.1564+989A>G;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.808+989A>G;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.1564+989A>G;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.808+989A>G;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.757+989A>G;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.526+5270A>G;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.757+989A>G;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.*969A>G;VC=3UTR;Gene=SGOL1/NM_001012411.3/0;CC=c.*969A>G;VC=3UTR;Gene=SGOL1/NM_001012413.3/0;CC=c.*969A>G;VC=3UTR;Gene=SGOL1/NM_001199251.2/0;CC=c.*969A>G;VC=3UTR;Gene=SGOL1/NM_001199253.2/0;CC=c.*969A>G;VC=3UTR;Gene=SGOL1/NM_001199255.2/0;CC=c.*969A>G;VC=3UTR;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:26:0:0:24,26:770,769:73.43,0.00:35.31,0.00:38.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.2,8.9:0,0:0,0:88,70:62,80:41,38:NM_001199252.1(SGOL1) c.1564+989A>G,-:0.05,-:NOT_FOUND,- 3 20211635 . a . . NT END=20211883;NT GT ./. 3 20211891 . C CA 7 rn VT=INS;SST=Single;DP=27;PC=0.144;Gene=SGOL1/NM_001012410.4/0;CC=c.1564+324_1564+325insT;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.808+324_808+325insT;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.1564+324_1564+325insT;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.808+324_808+325insT;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.757+324_757+325insT;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.526+4605_526+4606insT;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.757+324_757+325insT;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.*304_*305insT;VC=3UTR;Gene=SGOL1/NM_001012411.3/0;CC=c.*304_*305insT;VC=3UTR;Gene=SGOL1/NM_001012413.3/0;CC=c.*304_*305insT;VC=3UTR;Gene=SGOL1/NM_001199251.2/0;CC=c.*304_*305insT;VC=3UTR;Gene=SGOL1/NM_001199253.2/0;CC=c.*304_*305insT;VC=3UTR;Gene=SGOL1/NM_001199255.2/0;CC=c.*304_*305insT;VC=3UTR;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:A,C,CA,D:26:16:3:2:2,20,3,1:33,562,97,51:1.51,0.00,7.25,1.72:-0.32,0.00,7.78,1.89:1.83,0.00,-0.53,-0.17:0.00,0.00,0.44,0.00:0.00,0.00,0.76,0.00:0.00,0.00,0.76,0.00:60,60,60,60:52.0,12.4,0.0,140.0:0,0,0,1:0,0,0,0:39,90,44,45:112,57,106,106:8,45,8,42:-,NM_001199252.1(SGOL1) c.1564+324_1564+325insT:-,NOT_FOUND:-,NOT_FOUND 3 20212189 rs1052930 A G 258 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.1785,G/0.8215;PC=0.026;Gene=SGOL1/NM_001012410.4/0;CC=c.1564+27T>C;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.808+27T>C;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.1564+27T>C;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.808+27T>C;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.757+27T>C;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.526+4308T>C;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.757+27T>C;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.*7T>C;VC=3UTR;Gene=SGOL1/NM_001012411.3/0;CC=c.*7T>C;VC=3UTR;Gene=SGOL1/NM_001012413.3/0;CC=c.*7T>C;VC=3UTR;Gene=SGOL1/NM_001199251.2/0;CC=c.*7T>C;VC=3UTR;Gene=SGOL1/NM_001199253.2/0;CC=c.*7T>C;VC=3UTR;Gene=SGOL1/NM_001199255.2/0;CC=c.*7T>C;VC=3UTR;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:72:43:0:0:1,71:11,2261:0.00,258.09:0.00,114.41:0.00,143.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,35.9:0,0:0,0:113,69:37,76:0,32:NM_001199252.1(SGOL1) c.1564+27T>C,NM_001199252.1(SGOL1) c.1564+27T>C:0.81,0.81:0.700169,0.700169 3 20212308 . C . . NT END=20212534;NT GT ./. 3 20212725 . C . . NT END=20215740;NT GT ./. 3 20212754 rs369158870 TA T 42 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=226;PC=0.001;Gene=SGOL1/NM_001012410.4/0;CC=c.1283-31delT;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.527-31delT;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.1283-31delT;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.527-31delT;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.476-31delT;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.526+3742delT;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.476-31delT;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.1283-31delT;VC=Intron;Gene=SGOL1/NM_001012411.3/0;CC=c.527-31delT;VC=Intron;Gene=SGOL1/NM_001012413.3/0;CC=c.476-31delT;VC=Intron;Gene=SGOL1/NM_001199251.2/0;CC=c.1283-31delT;VC=Intron;Gene=SGOL1/NM_001199253.2/0;CC=c.527-31delT;VC=Intron;Gene=SGOL1/NM_001199255.2/0;CC=c.476-31delT;VC=Intron;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:31:16:1:14:16,1,14:470,32,443:0.00,1.96,41.99:0.00,2.10,13.98:0.00,-0.14,28.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:26.8,0.0,59.6:1,0,0:0,0,0:76,129,87:72,21,53:19,0,19:-,NM_001199252.1(SGOL1) c.1283-31delT:-,NOT_FOUND:-,NOT_FOUND 3 20212771 rs115667228 A C 51 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.9539,C/0.04613;PC=0.001;Gene=SGOL1/NM_001012410.4/0;CC=c.1283-47T>G;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.527-47T>G;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.1283-47T>G;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.527-47T>G;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.476-47T>G;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.526+3726T>G;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.476-47T>G;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.1283-47T>G;VC=Intron;Gene=SGOL1/NM_001012411.3/0;CC=c.527-47T>G;VC=Intron;Gene=SGOL1/NM_001012413.3/0;CC=c.476-47T>G;VC=Intron;Gene=SGOL1/NM_001199251.2/0;CC=c.1283-47T>G;VC=Intron;Gene=SGOL1/NM_001199253.2/0;CC=c.527-47T>G;VC=Intron;Gene=SGOL1/NM_001199255.2/0;CC=c.476-47T>G;VC=Intron;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:30:13:0:0:14,16:393,528:0.00,51.45:0.00,14.37:0.00,37.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,66.2:0,0:0,0:88,85:60,57:24,23:-,NM_001199252.1(SGOL1) c.1283-47T>G:-,0.06:-,0.052101 3 20212796 rs9828909 G T 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6532,T/0.3468;PC=0.013;Gene=SGOL1/NM_001012410.4/0;CC=c.1283-72C>A;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.527-72C>A;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.1283-72C>A;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.527-72C>A;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.476-72C>A;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.526+3701C>A;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.476-72C>A;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.1283-72C>A;VC=Intron;Gene=SGOL1/NM_001012411.3/0;CC=c.527-72C>A;VC=Intron;Gene=SGOL1/NM_001012413.3/0;CC=c.476-72C>A;VC=Intron;Gene=SGOL1/NM_001199251.2/0;CC=c.1283-72C>A;VC=Intron;Gene=SGOL1/NM_001199253.2/0;CC=c.527-72C>A;VC=Intron;Gene=SGOL1/NM_001199255.2/0;CC=c.476-72C>A;VC=Intron;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:10:0:0:11,14:323,459:0.00,45.16:0.00,11.35:0.00,33.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.6,67.6:0,0:0,0:100,97:51,53:18,21:-,NM_001199252.1(SGOL1) c.1283-72C>A:-,0.37:-,NOT_FOUND 3 20216519 rs61729306 T A 157 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.7342,A/0.2658;PC=0.002;Gene=SGOL1/NM_001012410.4/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001012412.4/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001199252.2/1;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001199254.2/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001199256.2/0;CC=c.475+1574A>T;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_138484.4/0;CC=c.475+1574A>T;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001012411.3/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001012413.3/0;CC=c.475+1574A>T;VC=Intron;Gene=SGOL1/NM_001199251.2/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001199253.2/0;CC=c.504A>T;ProtCh=p.T168=;VC=Silent;Gene=SGOL1/NM_001199255.2/0;CC=c.475+1574A>T;VC=Intron;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding;Gene=SGOL1-AS1/NR_132785/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:95:43:0:0:51,44:1615,1370:157.29,0.00:51.90,0.00:105.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,5.4:0,0:0,0:79,80:70,66:35,33:NM_001199252.1(SGOL1) c.504A>T (p.(=)),-:0.26,-:0.164026,- 3 20216548 . C . . NT END=20218092;NT GT ./. 3 20216692 rs978928 C T 105 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2326,T/0.7674;Gene=SGOL1/NM_001012410.4/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.475+1401G>A;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.475+1401G>A;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001012411.3/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001012413.3/0;CC=c.475+1401G>A;VC=Intron;Gene=SGOL1/NM_001199251.2/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001199253.2/0;CC=c.476-145G>A;VC=Intron;Gene=SGOL1/NM_001199255.2/0;CC=c.475+1401G>A;VC=Intron;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding;Gene=SGOL1-AS1/NR_132785/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:2:0:0:29:910:104.76:3.88:100.89:1.00:1.00:1.00:60:35.0:0:0:106:43:27:NM_001199252.1(SGOL1) c.476-145G>A,NM_001199252.1(SGOL1) c.476-145G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 3 20218152 . C . . NT END=20219762;NT GT ./. 3 20219694 rs6550401 T G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5415,G/0.4585;Gene=SGOL1/NM_001012410.4/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001012411.3/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001012413.3/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001199251.2/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001199253.2/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NM_001199255.2/0;CC=c.416+69A>C;VC=Intron;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding;Gene=SGOL1-AS1/NR_132785/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:G,T:14:14:0:0:9,5:294,162:29.69,0.00:24.09,0.00:5.60,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:45.6,7.0:0,0:0,0:56,77:89,73:19,55:NM_001199252.1(SGOL1) c.416+69A>C,-:0.44,-:NOT_FOUND,- 3 20219840 . C . . NT END=20225099;NT GT ./. 3 20219885 rs6550402 C T 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.2999,T/0.7001;Gene=SGOL1/NM_001012410.4/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001012412.4/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001199252.2/1;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001199254.2/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001199256.2/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001199257.2/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_138484.4/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001012409.3/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001012411.3/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001012413.3/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001199251.2/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001199253.2/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NM_001199255.2/0;CC=c.340-46G>A;VC=Intron;Gene=SGOL1/NR_131179.1/0;VC=NonCoding;Gene=SGOL1/NR_131180.1/0;VC=NonCoding;Gene=SGOL1-AS1/NR_132785/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:6:0:0:18:533:61.83:15.44:46.39:1.00:1.00:1.00:60:38.3:0:0:96:54:27:NM_001199252.1(SGOL1) c.340-46G>A,NM_001199252.1(SGOL1) c.340-46G>A:0.7,0.7:0.520859,0.520859 3 20225297 . C . . NT END=20225377;NT GT ./. 3 20225520 . C . . NT END=21462705;NT GT ./. 3 21107332 rs9850797 G C 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2536,C/0.7464 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,G:4:3:0:0:2,2:66,69:6.35,0.00:5.11,0.00:1.24,0.00:0.51,0.00:0.89,0.00:0.89,0.00:70,60:51.5,0.0:0,0:0,0:63,92:69,48:24,37:chr3 g.21107331G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 21352383 rs2731935 C T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9223,T/0.07768;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,94:0.00,9.85:0.00,8.08:0.00,1.78:0.00,0.85:0.00,0.85:0.00,0.83:60,60:22.0,85.0:0,0:0,0:48,13:103,119:0,4:-,chr3 g.21352382C>T (intergenic):-,0.09:-,NOT_FOUND 3 21352448 . C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;NP=11;NP=12;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:C,G:4:4:0:0:2,2:60,71:0.00,6.85:0.00,3.12:0.00,3.73:0.00,0.51:0.00,0.51:0.00,0.79:60,60:32.5,106.0:0,2:0,0:129,78:21,59:16,2:-,chr3 g.21352447C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 21447274 rs409972 A C 65 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5695,C/0.4305;PC=0.022;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:8:0:0:19:564:65.43:20.42:45.01:1.00:1.00:1.00:60:40.2:0:0:105:41:27:NR_002311.1(VENTXP7) n.57A>C,NR_002311.1(VENTXP7) n.57A>C:0.47,0.47:NOT_FOUND,NOT_FOUND 3 21447336 rs409974 G A 9 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9269,A/0.07308;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:10:3:0:0:3,7:98,211:8.58,0.00:1.37,0.00:7.21,0.00:0.62,0.00:0.69,0.00:0.92,0.00:60,60:87.3,30.3:0,0:0,0:117,88:34,63:16,21:NR_002311.1(VENTXP7) n.119G>A,-:0.09,-:NOT_FOUND,- 3 21447337 rs371532 C A 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.9269,A/0.07308;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:A,C:10:3:0:0:3,7:85,175:7.29,0.00:1.32,0.00:5.97,0.00:0.62,0.00:0.69,0.00:0.92,0.00:60,60:87.3,30.3:0,0:0,0:118,89:33,62:16,21:NR_002311.1(VENTXP7) n.120C>A,-:0.09,-:NOT_FOUND,- 3 21447525 rs366161 G A 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.3678,A/0.6322;PC=0.017;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:18:0:0:12,11:363,344:35.06,0.00:17.79,0.00:17.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.4,8.2:0,0:0,0:47,32:104,108:13,9:NR_002311.1(VENTXP7) n.308G>A,-:0.64,-:NOT_FOUND,- 3 21447799 rs430387 T C 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.23,C/0.77;PC=0.002;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:5:0:0:8,6:206,196:20.19,0.00:9.02,0.00:11.17,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:94.5,29.5:0,0:0,0:95,125:49,25:20,8:NR_002311.1(VENTXP7) n.582T>C,-:0.76,-:NOT_FOUND,- 3 21447834 rs440905 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2302,T/0.7698;PC=0.001;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:10:2:0:0:3,7:85,211:0.00,21.78:0.00,5.03:0.00,16.74:0.00,1.00:0.00,0.92:0.00,1.00:60,60:0.0,113.0:0,0:0,0:144,124:5,27:4,26:-,NR_002311.1(VENTXP7) n.617C>T:-,0.76:-,NOT_FOUND 3 21447896 rs800605 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2306,G/0.7694;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,G:5:1:0:0:2,3:68,91:0.00,9.07:0.00,-0.40:0.00,9.47:0.00,0.78:0.00,0.73:0.00,0.97:60,60:0.0,112.0:0,0:0,0:29,81:120,69:2,55:-,NR_002311.1(VENTXP7) n.679A>G:-,0.76:-,NOT_FOUND 3 21447957 rs776644 C T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5733,T/0.4267;PC=0.006;Gene=VENTXP7/NR_002311.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:1:0:0:2,3:69,78:0.00,7.77:0.00,-0.20:0.00,7.96:0.00,0.78:0.00,0.73:0.00,0.78:60,60:0.0,66.7:0,0:0,0:90,66:59,82:2,6:-,NR_002311.1(VENTXP7) n.740C>T:-,0.46:-,NOT_FOUND 3 21462754 rs451242 A G 475 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=A/0.1989,C/.,G/0.8011,T/.;Gene=ZNF385D/NM_024697.2/1;CC=c.1140T>C;ProtCh=p.P380=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:136:123:0:0:136:4103:474.59:315.80:158.79:1.00:1.00:1.00:60:64.6:0:0:56:91:31:NM_024697.2(ZNF385D) c.1140T>C (p.(=)),NM_024697.2(ZNF385D) c.1140T>C (p.(=)):0.8,0.8:0.756266,0.756266 3 21462787 rs427233 G A 562 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=G/0.08427,A/0.9157;PC=0.001;Gene=ZNF385D/NM_024697.2/1;CC=c.1107C>T;ProtCh=p.S369=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:144:115:0:0:144:4937:562.34:315.98:246.37:1.00:1.00:1.00:60:62.1:0:0:63:83:30:NM_024697.2(ZNF385D) c.1107C>T (p.(=)),NM_024697.2(ZNF385D) c.1107C>T (p.(=)):0.93,0.93:0.872597,0.872597 3 21462940 . C . . NT END=21465454;NT GT ./. 3 21465196 rs439263 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.9309,C/0.06909;Gene=ZNF385D/NM_024697.2/1;CC=c.954+259A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:4:0:0:3,1:95,33:9.95,0.00:9.95,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:88.0,0.0:0,0:0,0:32,19:104,132:10,0:NM_024697.2(ZNF385D) c.954+259A>G,-:0.07,-:NOT_FOUND,- 3 21465354 rs811358 G A 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.9315,A/0.06849;Gene=ZNF385D/NM_024697.2/1;CC=c.954+101C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:10,11:330,345:31.46,0.00:31.46,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.8,6.4:0,0:0,0:44,48:106,103:32,16:NM_024697.2(ZNF385D) c.954+101C>T,-:0.07,-:NOT_FOUND,- 3 21465557 . C . . NT END=21466983;NT GT ./. 3 21467163 . C . . NT END=21478461;NT GT ./. 3 21478152 rs1702781 T G 22 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.02776,G/0.9722;PC=0.037;Gene=ZNF385D/NM_024697.2/1;CC=c.673+310A>C;VC=Intron;DM=ZNF385D/zf-met GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:189:21.76:21.76:0.00:1.00:1.00:0.00:60:42.0:0:0:37:113:35:NM_024697.2(ZNF385D) c.673+310A>C,NM_024697.2(ZNF385D) c.673+310A>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 21478696 . C . . NT END=21483177;NT GT ./. 3 21478919 rs1876463 T C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.05072,C/0.9493;Gene=ZNF385D/NM_024697.2/1;CC=c.440-224A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:349:39.67:0.00:39.67:1.00:0.00:1.00:60:42.9:0:0:126:24:15:NM_024697.2(ZNF385D) c.440-224A>G,NM_024697.2(ZNF385D) c.440-224A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 3 21482997 rs7625365 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.5639,G/0.4361;Gene=ZNF385D/NM_024697.2/1;CC=c.440-4302T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:A,G:8:8:0:0:3,5:88,88:0.00,8.66:0.00,8.66:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:11.3,66.8:0,0:0,0:56,30:95,120:15,29:-,NM_024697.2(ZNF385D) c.440-4302T>C:-,0.38:-,NOT_FOUND 3 21483086 rs3821733 G A 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6156,A/0.3844;Gene=ZNF385D/NM_024697.2/1;CC=c.440-4391C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:11,11:346,311:33.24,0.00:33.39,0.00:-0.15,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:54.1,4.1:0,0:0,0:52,60:99,90:37,25:NM_024697.2(ZNF385D) c.440-4391C>T,-:0.34,-:NOT_FOUND,- 3 21483235 . C . . NT END=21484665;NT GT ./. 3 21483280 rs3732905 T A 70 nt VT=SNV;PN=G;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.5639,A/0.4361;PC=0.030;Gene=ZNF385D/NM_024697.2/1;CC=c.440-4585A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:41:20:0:0:22,19:714,584:69.63,0.00:21.42,0.00:48.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,11.6:0,0:0,0:96,77:52,62:12,38:NM_024697.2(ZNF385D) c.440-4585A>T,-:0.38,-:NOT_FOUND,- 3 21484378 rs5847098 A AGTGT 17 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5729,AGT/0.02356,AGTGT/0.1651,AGTGTGT/0.1266,AGTGTGTGT/0.1118;NP=13;NP=3;NP=3;NP=42;PC=0.005;Gene=ZNF385D/NM_024697.2/1;CC=c.440-5684_440-5683insACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,AGTGT:7:7:5:0:2,5:60,165:0.00,17.07:0.00,11.84:0.00,5.22:0.00,0.98:0.00,0.98:0.00,0.99:60,60:0.0,0.0:0,0:0,0:54,33:78,118:30,17:-,NM_024697.2(ZNF385D) c.440-5684_440-5683insACAC:-,NOT_FOUND:-,NOT_FOUND 3 21484555 rs3860572 G A 62 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.5639,A/0.4361;Gene=ZNF385D/NM_024697.2/1;CC=c.440-5860C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:48:47:0:0:22,1,25:657,12,732:62.08,0.05,0.00:62.61,-0.21,0.00:-0.53,0.26,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.95,0.00,0.00:60,60,60:54.9,213.0,3.0:0,0,0:0,0,0:43,15,51:108,135,100:30,0,37:NM_024697.2(ZNF385D) c.440-5860C>T,-:0.38,-:NOT_FOUND,- 3 21484762 rs411674 A C 467 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=A/0.03854,C/0.9615;Gene=ZNF385D/NM_024697.2/1;CC=c.440-6067T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:120:73:0:0:1,119:10,4118:0.00,466.73:0.00,206.37:0.00,260.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.0,41.9:0,0:0,0:21,79:130,72:0,33:NM_024697.2(ZNF385D) c.440-6067T>G,NM_024697.2(ZNF385D) c.440-6067T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 21484802 . G . . NT END=21552352;NT GT ./. 3 21484887 rs411410 T C 184 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.03694,C/0.9631;Gene=ZNF385D/NM_024697.2/1;CC=c.440-6192A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C:54:16:0:0:54:1583:183.65:36.63:147.02:1.00:1.00:1.00:60:42.5:0:0:103:44:28:NM_024697.2(ZNF385D) c.440-6192A>G,NM_024697.2(ZNF385D) c.440-6192A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 21552516 . C . . NT END=21606065;NT GT ./. 3 21606027 rs66546661 AT A 46 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1000;PC=0.041;Gene=ZNF385D/NM_024697.2/1;CC=c.276+38delA;VC=Intron;Gene=ZNF385D-AS1/NR_046731.1/0;VC=NonCoding;DM=ZNF385D/zf-met;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:AT,A:16:17:0:17:2,14:52,503:0.00,46.16:0.00,35.66:0.00,10.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.5,16.9:0,3:0,0:89,31:55,116:37,16:-,NM_024697.2(ZNF385D) c.276+38delA:-,NOT_FOUND:-,NOT_FOUND 3 21606177 . C . . NT END=21706377;NT GT ./. 3 21657285 rs144521609 A AGTGTGTGTGTGTGTGTGT 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4589,AGT/.,AGTGTGTGTGTGTGT/.,AGTGTGTGTGTGTGTGTGT/0.5411;NP=17;NP=2;Gene=ZNF385D/NM_024697.2/1;CC=c.165+49092_165+49093insACACACACACACACACAC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AGTGTGTGTGTGTGTGTGT:5:5:4:0:2,3:68,124:0.00,9.03:0.00,7.34:0.00,1.69:0.00,0.73:0.00,0.96:0.00,0.89:60,60:4.5,3.3:0,1:0,0:44,67:106,82:16,18:-,NM_024697.2(ZNF385D) c.165+49092_165+49093insACACACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 21706521 . C . . NT END=21792386;NT GT ./. 3 21792882 rs7634827 A G 499 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=143;DB;DBA=NA;PAF=A/0.1977,G/0.8023;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:143:78:0:0:2,141:23,4359:0.00,499.16:0.00,192.53:0.00,306.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.5,39.6:0,0:0,0:45,86:105,62:4,34:NM_024697.2(ZNF385D) c.-408-u66T>C,NM_024697.2(ZNF385D) c.-408-u66T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 3 21792928 . G . . NT END=22210308;NT GT ./. 3 21793001 rs34599430 G A 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.4878,A/0.5122 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:13:0:0:32,26:974,798:95.24,0.00:8.92,0.00:86.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.3,19.4:0,0:0,0:93,87:52,63:32,35:NM_024697.2(ZNF385D) c.-408-u185C>T,-:0.51,-:NOT_FOUND,- 3 21927232 rs3074772 C CTGTGTGTGTG 7 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=18;NP=4;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:C,CTGTGTGTGTG,D:4:4:2:2:1,2,1:36,66,66:0.00,6.54,2.88:0.00,5.07,3.08:0.00,1.47,-0.20:0.00,0.46,0.00:0.00,0.87,0.00:0.00,0.87,0.00:60,60,60:11.0,0.0,24.0:0,0,1:0,0,0:76,55,69:39,73,80:0,23,32:-,XM_003118873.2(LOC100505836) c.326-7583_326-7582insCACACACACA:-,NOT_FOUND:-,NOT_FOUND 3 22107953 rs10627614 C CGT 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=19;NP=4;PC=0.003;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CGT,D:7:7:3:1:3,3,1:99,90,33:0.00,8.60,2.73:0.00,7.24,2.80:0.00,1.36,-0.07:0.00,0.69,0.00:0.00,0.69,0.00:0.00,0.83,0.00:60,60,60:59.3,27.7,0.0:0,0,0:0,0,0:29,37,61:110,109,90:12,26,0:-,XM_003118873.2(LOC100505836) c.325+102355_325+102356insAC:-,NOT_FOUND:-,NOT_FOUND 3 22210274 rs2272363 T C 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.8255,C/0.1745 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:38:37:0:0:21,1,16:690,10,500:68.04,0.04,0.00:61.37,0.06,0.00:6.66,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:37.0,154.0,11.1:0,0,0:0,0,0:44,45,39:102,106,112:30,0,19:XM_003118872.2(LOC100505836) c.325+35A>G,-:0.15,-:NOT_FOUND,- 3 22210463 rs2272362 T C 157 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.8235,C/0.1765;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:87:53:0:0:48,39:1597,1250:156.54,0.00:65.98,0.00:90.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,7.2:0,0:0,0:61,74:88,75:37,35:XM_003118872.2(LOC100505836) c.171A>G (p.(=)),-:0.16,-:NOT_FOUND,- 3 22210528 . C . . NT END=22413940;NT GT ./. 3 22413893 rs4858033 C A 83 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.3828,A/0.6172;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:61:49:0:0:30,31:867,901:82.67,0.00:45.21,0.00:37.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,19.0:0,0:0,0:23,43:124,101:20,33:XM_003118872.2(LOC100505836) c.106+48G>T,-:0.63,-:NOT_FOUND,- 3 22414047 . C . . NT END=23236690;NT GT ./. 3 22423131 rs3749375 G A 55 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.232,A/0.768 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:482:55.32:55.32:0.00:1.00:1.00:0.00:60:59.6:0:0:31:119:30:chr3 g.22423130G>A (intergenic),chr3 g.22423130G>A (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 3 22423244 rs4597736 C T 192 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.5421,T/0.4579;PC=0.994 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:T:50:44:0:0:50:1683:192.14:143.88:48.26:1.00:1.00:1.00:60:60.4:0:0:39:109:26:chr3 g.22423243C>T (intergenic),chr3 g.22423243C>T (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 3 22423338 rs4472062 G C 313 nt VT=SNV;PN=A;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.2835,C/0.7165;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:C,G:87:71:0:0:85,2:2771,58:313.35,0.00:198.58,0.00:114.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,27:45.8,44.0:0,0:0,0:48,75:102,73:34,16:chr3 g.22423337G>C (intergenic),chr3 g.22423337G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 22423897 rs71044986 TGAG T 88 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1633;PC=0.307;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:G,TGAG,T:34:23:0:27:1,6,27:12,160,820:0.28,0.00,88.08:0.30,0.00,48.62:-0.02,0.00,39.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:40,40,60:43.0,19.0,23.0:0,0,0:0,0,0:135,143,70:12,4,81:0,5,22:-,chr3 g.22423898_22423900delGAG (intergenic):-,0.44:-,NOT_FOUND 3 22423998 rs13070522 C T 127 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.5278,T/0.4722;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:17:0:0:35:1108:127.40:56.94:70.46:1.00:1.00:1.00:60:44.0:0:0:73:72:32:chr3 g.22423997C>T (intergenic),chr3 g.22423997C>T (intergenic):0.47,0.47:NOT_FOUND,NOT_FOUND 3 22424405 rs397988922 TA T 59 idl,rn VT=DEL;SST=Single;DP=32;DB;DBA=NA;PAF=TA/0.5216,T/0.4784;DB;DBA=NA;PAF=TA/0.5216,T/0.4784;NP=18;PC=1.000;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:29:9:0:23:9,20:279,670:0.00,58.81:0.00,10.90:0.00,47.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,43.9:0,3:0,0:134,88:11,52:13,27:-,chr3 g.22424406delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 22523796 rs34553196 CAT C 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=188;PC=0.001;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CAT,C:5:0:0:3:2,3:65,97:0.00,9.67:0.00,0.00:0.00,9.67:0.00,0.78:0.00,0.00:0.00,0.78:60,60:16.5,13.0:0,0:0,0:117,126:32,23:30,2:-,chr3 g.22523797_22523798delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 22530701 rs10909343 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.781,CTGTG/.,CTGTGTG/.,CTGTGTGTG/0.219;DB;DBA=NA;PAF=NA;NP=11;NP=3;NP=34;NP=4;NP=8;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,G,I:4:3:1:0:1,2,1:35,70,33:0.00,7.05,3.05:0.00,3.53,3.11:0.00,3.53,-0.06:0.00,0.51,0.00:0.00,0.89,0.00:0.00,0.79,0.00:60,60,60:0.0,52.5,26.0:0,0,0:0,0,0:83,18,60:32,127,91:0,0,0:-,chr3 g.22530700C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 22621003 rs1841214 G T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1044,T/0.8956 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:126:14.51:14.51:0.00:1.00:1.00:0.00:60:35.0:0:0:90:60:48:chr3 g.22621002G>T (intergenic),chr3 g.22621002G>T (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 3 22621123 rs1901001 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4663,A/0.5337 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,G,I:7:4:1:2:3,3,1:89,69,33:8.50,0.00,2.73:4.45,0.00,-0.10:4.05,0.00,2.83:0.69,0.00,0.00:0.89,0.00,0.00:0.93,0.00,0.00:70,60,60:71.0,22.3,25.0:0,0,0:0,0,0:20,89,14:126,34,137:19,7,0:chr3 g.22621122G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 22728001 rs73047348 G A 11 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9974,A/0.002596;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,G:4:4:0:0:3,1:103,34:10.75,0.00:9.08,0.00:1.68,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:90.3,7.0:0,0:0,0:97,8:54,126:1,0:chr3 g.22728000G>A (intergenic),-:0.0046,-:NOT_FOUND,- 3 23164663 rs4263312 A G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4443,G/0.5557;PC=0.155 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:4:0:0:1,3:34,91:0.00,9.55:0.00,5.95:0.00,3.60:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,59.3:0,0:0,0:57,74:60,39:0,6:-,chr3 g.23164662A>G (intergenic):-,0.53:-,NOT_FOUND 3 23176141 rs567857304 A ATCTGAAGT 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6402,T/0.3598;NP=15;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,ATCTGAAGT:5:4:3:0:2,3:69,101:0.00,10.07:0.00,6.81:0.00,3.26:0.00,0.78:0.00,0.97:0.00,0.94:60,60:26.0,0.0:0,0:0,0:17,67:116,84:0,13:-,chr3 g.23176141_23176142insTCTGAAGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 23231859 . CGT T,C 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;PC=0.079 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:65:T,C:5:5:0:2:3,2:77,67:8.44,6.86:4.94,3.43:3.50,3.43:0.78,0.00:0.78,0.00:0.97,0.00:60,60:44.3,0.0:0,0:0,0:63,91:87,48:34,29:chr3 g.23231859_23231860delCG (intergenic),chr3 g.23231860_23231861delGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 23236906 . C . . NT END=23243915;NT GT ./. 3 23244232 . C . . NT END=23244654;NT GT ./. 3 23244933 . C . . NT END=23246156;NT GT ./. 3 23244943 rs555421582 A AC 131 rn VT=INS;SST=Single;DP=127;DB;DBA=NA;PAF=A/0.1687,AC/0.8313;DB;DBA=NA;PAF=A/0.1687,AC/0.8313,ACCC/.;NP=3;PC=0.117;Gene=UBE2E2/NM_152653.3/1;CC=c.-13dupC;VC=5UTR;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,AC:125:62:51:0:71,4,1,49:1869,54,10,1486:0.00,1.33,-0.16,130.75:0.00,-0.29,-0.07,50.03:0.00,1.63,-0.09,80.72:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:12.7,121.2,176.0,36.5:1,1,0,2:0,0,0,0:114,89,62,72:26,60,87,60:28,35,0,36:-,NM_152653.3(UBE2E2) c.-13dupC:-,NOT_FOUND:-,NOT_FOUND 3 23246269 . A . . NT END=23250190;NT GT ./. 3 23250367 . G . . NT END=23258752;NT GT ./. 3 23258804 . G . . NT END=23491348;NT GT ./. 3 23449130 rs778464 A G 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3339,G/0.6661;Gene=UBE2E2/NM_152653.3/1;CC=c.228-91969A>G;VC=Intron;Gene=MIR548AC/NR_039621.1/0;VC=NonCoding;DM=UBE2E2/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:6:5:0:0:2,4:63,109:0.00,11.10:0.00,6.49:0.00,4.62:0.00,0.93:0.00,0.99:0.00,0.99:60,60:16.0,48.2:0,0:0,0:83,40:67,77:18,10:-,NM_152653.3(UBE2E2) c.228-91969A>G:-,0.61:-,NOT_FOUND 3 23491437 . A . . NT END=23541098;NT GT ./. 3 23540909 rs3817002 G T 8 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4339,T/0.5661;Gene=UBE2E2/NM_152653.3/1;CC=c.228-190G>T;VC=Intron;Gene=MIR548AC/NR_039621.1/0;VC=NonCoding;DM=UBE2E2/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,T:9:9:0:0:6,3:174,94:0.00,8.35:0.00,8.35:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:12.0,70.3:0,0:0,0:19,44:131,104:11,34:-,NM_152653.3(UBE2E2) c.228-190G>T:-,0.55:-,NOT_FOUND 3 23540927 rs7614195 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.7923,C/0.2077;PC=0.020;Gene=UBE2E2/NM_152653.3/1;CC=c.228-172T>C;VC=Intron;Gene=MIR548AC/NR_039621.1/0;VC=NonCoding;DM=UBE2E2/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:C,T:11:11:0:0:3,8:82,242:6.83,0.00:6.83,0.00:0.00,0.00:0.60,0.00:0.60,0.00:0.00,0.00:60,60:70.3,14.5:0,0:0,0:62,30:86,121:34,11:NM_152653.3(UBE2E2) c.228-172T>C,-:0.21,-:NOT_FOUND,- 3 23541232 . G . . NT END=23574044;NT GT ./. 3 23574193 . G . . NT END=23575643;NT GT ./. 3 23574450 rs17194786 A G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3027,G/0.6973;Gene=UBE2E2/NM_152653.3/1;CC=c.508+258A>G;VC=Intron;Gene=MIR548AC/NR_039621.1/0;VC=NonCoding;DM=UBE2E2/UQ_con GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:A,G,T:5:0:0:0:2,2,1:66,71,10:0.00,6.81,0.60:0.00,0.00,0.00:0.00,6.81,0.60:0.00,0.46,0.00:0.00,0.00,0.00:0.00,0.46,0.00:60,60,60:0.0,35.5,142.0:0,0,0:0,0,0:30,90,127:120,59,-5:18,25,0:-,NM_152653.3(UBE2E2) c.508+258A>G:-,0.68:-,NOT_FOUND 3 23575619 rs78197292 C CT 11 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=2;Gene=UBE2E2/NM_152653.3/1;CC=c.508+1448_508+1449insT;VC=Intron;Gene=MIR548AC/NR_039621.1/0;VC=NonCoding;DM=UBE2E2/UQ_con;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T,CT,D:20:17:4:3:12,3,4,1:349,51,135,62:0.00,3.29,11.43,1.71:0.00,-0.08,10.09,-0.21:0.00,3.37,1.35,1.92:0.00,0.00,0.70,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.74,0.00:60,60,60,60:39.9,91.7,105.2,144.0:0,0,0,1:0,0,0,0:93,79,57,39:22,64,92,111:24,13,1,18:-,NM_152653.3(UBE2E2) c.508+1427_508+1428insT:-,NOT_FOUND:-,NOT_FOUND 3 23575763 . A . . NT END=23631224;NT GT ./. 3 23575820 rs199720039 G GT 9 idl,rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=2;PC=0.002;Gene=UBE2E2/NM_152653.3/1;CC=c.508+1640dupT;VC=Intron;Gene=MIR548AC/NR_039621.1/0;VC=NonCoding;DM=UBE2E2/UQ_con;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:G,T,GT,D:31:5:5:2:23,2,4,2:737,38,155,52:0.00,1.85,9.37,3.12:0.00,-0.07,-0.15,1.12:0.00,1.92,9.51,2.00:0.00,0.00,0.63,0.00:0.00,0.00,0.48,0.00:0.00,0.00,0.95,0.00:60,60,60,60:14.1,51.0,21.5,5.5:0,0,1,0:0,0,0,0:106,63,110,81:40,87,41,69:29,50,4,34:-,NM_152653.3(UBE2E2) c.508+1628_508+1629insT:-,NOT_FOUND:-,NOT_FOUND 3 23631323 . G . . NT END=23848760;NT GT ./. 3 23848913 . G . . NT END=23851928;NT GT ./. 3 23852020 . G . . NT END=23852950;NT GT ./. 3 23853002 . G . . NT END=23929057;NT GT ./. 3 23929191 . G . . NT END=23930602;NT GT ./. 3 23931332 . g . . NT END=23931999;NT GT ./. 3 23931378 rs66579106 CCT C 22 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=CCT/0.8508,C/0.1492;NP=259;PC=0.004;Gene=UBE2E1/NM_003341.4/1;CC=c.485-621_485-620delCT;VC=Intron;Gene=UBE2E1/NM_182666.2/0;CC=c.434-621_434-620delCT;VC=Intron;Gene=UBE2E1/NM_001202476.1/0;CC=c.386-621_386-620delCT;VC=Intron;DM=UBE2E1/UQ_con;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCT,C:26:0:0:9:17,9:480,254:0.00,22.41:0.00,0.00:0.00,22.41:0.00,0.99:0.00,0.00:0.00,0.99:60,60:18.2,11.0:0,0:0,0:120,96:30,54:30,48:-,NM_003341.4(UBE2E1) c.485-621_485-620delCT:-,0.15:-,NOT_FOUND 3 23932098 . A . . NT END=23934585;NT GT ./. 3 23934490 rs1136155 T C 45 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8558,C/0.1442;Gene=NKIRAS1/NM_020345.3/1;CC=c.*96A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:25:0:0:14,12:458,377:44.71,0.00:35.89,0.00:8.82,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:43.1,4.7:0,0:0,0:47,43:96,103:27,14:NM_020345.3(NKIRAS1) c.*96A>G,-:0.14,-:NOT_FOUND,- 3 23934829 . C . . NT END=23942298;NT GT ./. 3 23942132 rs57762803 C CA 8 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5877,CA/0.4123;DB;DBA=NA;PAF=C/0.5877,CA/0.4123;NP=22;PC=0.003;Gene=NKIRAS1/NM_020345.3/1;CC=c.336+166_336+167insT;VC=Intron;DM=NKIRAS1/Ras;DM=NKIRAS1/Ras;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,CA,D:9:10:4:1:5,3,1:165,119,28:0.00,7.79,2.05:0.00,7.79,2.05:0.00,0.00,0.00:0.00,0.62,0.00:0.00,0.62,0.00:0.00,0.00,0.00:60,60,60:39.6,44.7,0.0:0,1,0:0,0,0:14,19,35:137,132,116:7,14,0:-,NM_020345.3(NKIRAS1) c.336+166_336+167insT:-,NOT_FOUND:-,NOT_FOUND 3 23942541 . C . . NT END=23952301;NT GT ./. 3 23942670 . C CT 15 idl,rn VT=INS;SST=Single;DP=39;Gene=NKIRAS1/NM_020345.3/1;CC=c.95-131_95-130insA;VC=Intron;DM=NKIRAS1/Ras;DM=NKIRAS1/Ras;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,C,CT,D:36:8:8:7:1,23,6,6:9,748,252,212:-0.08,0.00,15.12,14.32:-0.05,0.00,-0.29,2.63:-0.04,0.00,15.41,11.70:0.00,0.00,0.88,0.00:0.00,0.00,0.69,0.00:0.00,0.00,0.99,0.00:60,60,60,60:137.0,14.8,6.3,31.7:0,0,2,1:0,0,0,0:122,133,74,95:28,18,76,55:0,10,26,33:-,NM_020345.3(NKIRAS1) c.95-131_95-130insA:-,NOT_FOUND:-,NOT_FOUND 3 23942831 rs9836860 A G 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8548,G/0.1452;PC=0.062;Gene=NKIRAS1/NM_020345.3/1;CC=c.95-291T>C;VC=Intron;DM=NKIRAS1/Ras;DM=NKIRAS1/Ras GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:133:15.21:0.00:15.21:1.00:0.00:1.00:60:39.2:0:0:132:17:10:NM_020345.3(NKIRAS1) c.95-291T>C,NM_020345.3(NKIRAS1) c.95-291T>C:0.14,0.14:NOT_FOUND,NOT_FOUND 3 23952408 . T . . NT END=23959350;NT GT ./. 3 23959523 . G . . NT END=23959930;NT GT ./. 3 23960068 . G . . NT END=23960686;NT GT ./. 3 23961762 rs1133926 A G 72 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.8678,G/0.1322;Gene=RPL15/NM_001253379.1/0;CC=c.*770A>G;VC=3UTR;Gene=RPL15/NM_002948.3/0;CC=c.*770A>G;VC=3UTR;Gene=RPL15/NM_001253384.1/1;CC=c.360+1025A>G;VC=Intron;Gene=RPL15/NM_001253383.1/0;CC=c.*770A>G;VC=3UTR;Gene=RPL15/NM_001253382.1/0;CC=c.*770A>G;VC=3UTR;Gene=RPL15/NM_001253380.1/0;CC=c.*770A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:57:36:0:0:32,24,1:969,769,12:0.00,71.74,-0.00:0.00,38.62,0.14:0.00,33.12,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.0,39.8,80.0:0,0,0:0,0,0:78,68,79:72,82,72:35,32,0:-,NM_001253379.1(RPL15) c.*770A>G:-,0.13:-,NOT_FOUND 3 23962348 . T . . NT END=23987069;NT GT ./. 3 23986747 rs56317749 G A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.755,A/0.245;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:5:5:0:0:3,2:97,61:9.67,0.00:9.67,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:66.3,101.0:0,0:0,0:35,57:87,94:25,33:NM_005126.4(NR1D2) c.-319-u4G>A,-:0.23,-:NOT_FOUND,- 3 23986930 rs4858565 A C 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.2296,C/0.7704;PC=0.003;Gene=NR1D2/NM_005126.4/0;CC=c.-140A>C;VC=5UTR;Gene=NR1D2/NR_110524.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:53:53:0:0:24,29:747,913:0.00,89.21:0.00,82.72:0.00,6.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.6,74.5:0,0:0,0:43,76:105,75:25,20:-,NM_005126.4(NR1D2) c.-140A>C:-,0.71:-,NOT_FOUND 3 23986983 rs7644275 C G 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.756,G/0.244;PC=0.053;Gene=NR1D2/NM_005126.4/0;CC=c.-87C>G;VC=5UTR;Gene=NR1D2/NR_110524.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:99:92:0:0:52,47:1627,1412:0.00,133.70:0.00,93.06:0.00,40.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,53.9:0,0:0,0:38,50:105,99:24,31:-,NM_005126.4(NR1D2) c.-87C>G:-,0.24:-,NOT_FOUND 3 23987086 . G . . NT END=23987611;NT GT ./. 3 23987745 . G . . NT END=23996027;NT GT ./. 3 23987842 rs9862416 A G 113 nt VT=SNV;PN=G;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=A/0.5741,G/0.4259;Gene=NR1D2/NM_005126.4/0;CC=c.16+757A>G;VC=Intron;Gene=NR1D2/NR_110524.1/0;VC=NonCoding;Gene=NR1D2/NM_001145425.1/1;CC=c.-210+98A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:71:21:0:0:35,1,35:1029,10,1178:0.00,-0.08,113.47:0.00,-0.04,19.91:0.00,-0.04,93.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,42,60:19.7,216.0,42.3:0,0,0:0,0,0:114,69,103:36,57,43:24,0,20:-,NM_005126.4(NR1D2) c.16+757A>G:-,0.36:-,NOT_FOUND 3 23996295 . G . . NT END=23997527;NT GT ./. 3 23996371 rs4858095 T G 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.2798,G/0.7202;Gene=NR1D2/NM_005126.4/0;CC=c.283+77T>G;VC=Intron;Gene=NR1D2/NR_110524.1/0;VC=NonCoding;Gene=NR1D2/NM_001145425.1/1;CC=c.58+77T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:30:4:0:0:14,16:452,551:42.88,0.00:4.50,0.00:38.38,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:35.2,3.5:0,0:0,0:108,84:42,66:10,13:NM_005126.4(NR1D2) c.283+77T>G,-:0.69,-:NOT_FOUND,- 3 23997617 . G . . NT END=24001161;NT GT ./. 3 24001078 rs4321479 C T 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2586,T/0.7414;Gene=NR1D2/NM_005126.4/0;CC=c.373-84C>T;VC=Intron;Gene=NR1D2/NR_110524.1/0;VC=NonCoding;Gene=NR1D2/NM_001145425.1/1;CC=c.148-84C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:15,14:481,454:0.00,43.36:0.00,38.74:0.00,4.63:0.00,1.00:0.00,1.00:0.00,0.99:60,60:5.5,44.1:0,0:0,0:61,55:90,95:46,32:-,NM_005126.4(NR1D2) c.373-84C>T:-,0.69:-,NOT_FOUND 3 24001307 . G . . NT END=24003467;NT GT ./. 3 24004097 . G . . NT END=24004714;NT GT ./. 3 24004943 . t . . NT END=24006467;NT GT ./. 3 24004949 rs113226787 G GT 10 idl,rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=2;Gene=NR1D2/NM_005126.4/0;CC=c.1146+864_1146+865insT;VC=Intron;Gene=NR1D2/NR_110524.1/0;VC=NonCoding;Gene=NR1D2/NM_001145425.1/1;CC=c.921+864_921+865insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:G,GT,D:34:18:5:2:28,4,2:909,161,65:0.00,9.97,4.26:0.00,0.84,0.91:0.00,9.13,3.34:0.00,0.61,0.00:0.00,0.80,0.00:0.00,0.90,0.00:60,60,60:6.2,10.5,5.0:0,1,0:0,0,0:106,91,111:45,60,25:20,30,21:-,NM_005126.4(NR1D2) c.1146+853_1146+854insT:-,NOT_FOUND:-,NOT_FOUND 3 24006477 rs4858097 T A 128 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=NA;NP=3483;PC=1.000;Gene=NR1D2/NM_005126.4/0;CC=c.1156T>A;ProtCh=p.L386M;VC=Missense;Gene=NR1D2/NR_110524.1/0;VC=NonCoding;Gene=NR1D2/NM_001145425.1/1;CC=c.931T>A;ProtCh=p.L311M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:90:A,G:37:33:0:0:36,1:1110,10:127.66,0.23:97.30,0.23:30.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,71.0:0,0:0,0:58,62:87,86:29,0:NM_005126.4(NR1D2) c.=,NM_005126.4(NR1D2) c.=:1,1:NOT_FOUND,NOT_FOUND 3 24006654 . G . . NT END=24009303;NT GT ./. 3 24009515 . G . . NT END=24018713;NT GT ./. 3 24018503 rs55792500 G GT 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3029,GT/0.6971;DB;DBA=NA;PAF=G/0.3029,GT/0.6971;NP=196;Gene=NR1D2/NM_005126.4/0;CC=c.1544-207dupT;VC=Intron;Gene=NR1D2/NR_110524.1/0;VC=NonCoding;Gene=NR1D2/NM_001145425.1/1;CC=c.1319-207dupT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GT:4:4:3:0:1,3:36,87:0.00,9.15:0.00,9.15:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,4.0:0,0:0,0:79,20:72,131:0,2:-,NM_005126.4(NR1D2) c.1544-211_1544-210insT:-,0.67:-,NOT_FOUND 3 24018911 . G . . NT END=24164374;NT GT ./. 3 24089762 rs73134512 G C 14 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7622,C/0.2378;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:C,G:7:6:0:0:4,3:140,86:13.84,0.00:12.70,0.00:1.14,0.00:0.90,0.00:0.99,0.00:0.97,0.00:60,60:61.2,7.7:0,0:0,0:51,50:82,101:14,33:chr3 g.24089761G>C (intergenic),-:0.29,-:NOT_FOUND,- 3 24089778 rs367831055 CGTGT C 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;PC=0.026;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:CGTGT,I,C:4:5:2:3:1,1,2:34,56,67:0.00,3.08,6.64:0.00,1.49,3.21:0.00,1.59,3.43:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.80:60,60,60:121.0,88.0,0.0:0,1,0:0,0,0:48,67,80:63,81,70:0,10,14:-,chr3 g.24089779_24089782delGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 24089825 rs72520544 TAG T 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=340;PC=0.007;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:TAG,T:5:3:0:4:2,3:42,87:0.00,8.69:0.00,3.28:0.00,5.41:0.00,0.78:0.00,0.94:0.00,0.97:60,60:26.5,17.0:0,0:0,0:135,99:13,51:3,9:-,chr3 g.24089826_24089827delAG (intergenic):-,0.61:-,NOT_FOUND 3 24164617 . C . . NT END=24168989;NT GT ./. 3 24169081 rs115445992 G A 213 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=139;DB;DBA=NA;PAF=NA;NP=3;PC=0.669;Gene=THRB/NM_000461.4/0;CC=c.1053C>T;ProtCh=p.D351=;VC=Silent;Gene=THRB/NM_001128176.2/0;CC=c.1053C>T;ProtCh=p.D351=;VC=Silent;Gene=THRB/NM_001128177.1/1;CC=c.1053C>T;ProtCh=p.D351=;VC=Silent;Gene=THRB/NM_001252634.1/0;CC=c.1053C>T;ProtCh=p.D351=;VC=Silent;DM=THRB/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:139:107:0:0:68,71:2224,2189:213.08,0.00:128.47,0.00:84.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,5.5:0,0:0,0:65,52:85,97:38,35:NM_001128177.1(THRB) c.1053C>T (p.(=)),-:0.0005,-:0.000308,- 3 24169249 . C . . NT END=24174806;NT GT ./. 3 24169313 rs2278802 A T 111 nt VT=SNV;PN=C;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.8241,T/0.1759;Gene=THRB/NM_000461.4/0;CC=c.886-65T>A;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.886-65T>A;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.886-65T>A;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.886-65T>A;VC=Intron;DM=THRB/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:82:23:0:0:46,36:1518,1179:0.00,110.66:0.00,28.54:0.00,82.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.4,41.6:0,0:0,0:91,91:58,59:19,30:-,NM_001128177.1(THRB) c.886-65T>A:-,0.13:-,NOT_FOUND 3 24169361 rs1667765 T C 76 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.7837,C/0.2163;PC=0.009;Gene=THRB/NM_000461.4/0;CC=c.886-113A>G;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.886-113A>G;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.886-113A>G;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.886-113A>G;VC=Intron;DM=THRB/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:9:0:0:28,23:782,705:76.27,0.00:5.61,0.00:70.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,34.5:0,0:0,0:122,110:28,40:17,19:NM_001128177.1(THRB) c.886-113A>G,-:0.27,-:NOT_FOUND,- 3 24169493 rs1868573 C T 20 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6516,T/0.3484;PC=0.001;Gene=THRB/NM_000461.4/0;CC=c.886-245G>A;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.886-245G>A;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.886-245G>A;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.886-245G>A;VC=Intron;DM=THRB/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:9:0:0:0:3,6:104,197:0.00,20.07:0.00,0.00:0.00,20.07:0.00,0.99:0.00,0.00:0.00,0.99:60,60:4.3,59.2:0,0:0,0:69,73:81,77:14,34:-,NM_001128177.1(THRB) c.886-245G>A:-,0.29:-,NOT_FOUND 3 24174954 . C . . NT END=24184991;NT GT ./. 3 24184995 rs3752874 G A 151 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.8425,A/0.1575;PC=1.000;Gene=THRB/NM_000461.4/0;CC=c.735C>T;ProtCh=p.F245=;VC=Silent;Gene=THRB/NM_001128176.2/0;CC=c.735C>T;ProtCh=p.F245=;VC=Silent;Gene=THRB/NM_001128177.1/1;CC=c.735C>T;ProtCh=p.F245=;VC=Silent;Gene=THRB/NM_001252634.1/0;CC=c.735C>T;ProtCh=p.F245=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:92:0:0:49,50:1578,1635:151.36,0.00:113.86,0.00:37.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,3.7:0,0:0,0:45,47:104,101:28,21:NM_001128177.1(THRB) c.735C>T (p.(=)),-:0.12,-:0.153621,- 3 24185198 . C . . NT END=24188165;NT GT ./. 3 24185307 rs3772382 C T 81 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.6911,T/0.3089;Gene=THRB/NM_000461.4/0;CC=c.533-110G>A;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.533-110G>A;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.533-110G>A;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.533-110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:2:0:0:15,25:458,802:0.00,80.68:0.00,-0.64:0.00,81.32:0.00,1.00:0.00,0.88:0.00,1.00:60,60:3.1,40.3:0,0:0,0:127,95:21,56:18,18:-,NM_001128177.1(THRB) c.533-110G>A:-,0.27:-,NOT_FOUND 3 24188314 . C . . NT END=24193880;NT GT ./. 3 24193982 . C . . NT END=24231564;NT GT ./. 3 24231826 . C . . NT END=24270428;NT GT ./. 3 24270289 rs75964684 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.9203,C/0.07967;PC=0.010;Gene=THRB/NM_000461.4/0;CC=c.22+140A>G;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.22+140A>G;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.22+140A>G;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.22+140A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:14:14:0:0:8,6:264,193:26.06,0.00:26.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:33.0,0.0:0,0:0,0:35,10:114,140:28,5:NM_001128177.1(THRB) c.22+140A>G,-:0.09,-:NOT_FOUND,- 3 24270493 . C . . NT END=25215888;NT GT ./. 3 24310933 rs826234 C T,CACAT 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3381,T/0.6619;NP=20;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:12:A,T,CACAT:7:2:1:0:1,5,1:10,143,25:0.67,15.92,2.13:0.00,5.60,0.00:0.67,10.32,2.13:0.00,0.98,0.00:0.00,0.93,0.00:0.00,1.00,0.00:60,60,60:51.0,77.0,0.0:0,0,0:0,0,0:28,51,73:123,90,53:0,13,0:NM_001128177.1(THRB) c.-42-40441G>A,NM_001128177.1(THRB) c.-42-40442_-42-40441insATGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 24458625 rs62255430 A G 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6627,G/0.3373;NP=37;Gene=THRB/NM_000461.4/0;CC=c.-115+77518T>C;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.-261+77553T>C;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.-252+77518T>C;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.-350+77518T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,G:4:1:0:0:2,2:44,68:0.00,6.56:0.00,1.79:0.00,4.77:0.00,0.51:0.00,0.67:0.00,0.51:60,60:70.0,139.5:0,0:0,0:19,92:131,44:3,21:-,NM_001128177.1(THRB) c.-252+77518T>C:-,NOT_FOUND:-,NOT_FOUND 3 24458626 rs375680369 C T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=THRB/NM_000461.4/0;CC=c.-115+77517G>A;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.-261+77552G>A;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.-252+77517G>A;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.-350+77517G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:4:1:0:0:2,2:64,69:0.00,6.65:0.00,1.84:0.00,4.81:0.00,0.51:0.00,0.67:0.00,0.51:60,60:70.0,139.5:0,0:0,0:20,93:130,43:3,21:-,NM_001128177.1(THRB) c.-252+77517G>A:-,NOT_FOUND:-,NOT_FOUND 3 24458627 rs55854931 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1198,G/0.8802;NP=1;NP=1;NP=611;PC=0.001;Gene=THRB/NM_000461.4/0;CC=c.-115+77516T>C;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.-261+77551T>C;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.-252+77516T>C;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.-350+77516T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:140:15.91:2.04:13.87:1.00:1.00:1.00:60:101.5:0:0:49:88:27:NM_001128177.1(THRB) c.-252+77516T>C,NM_001128177.1(THRB) c.-252+77516T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 24458629 rs55824170 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.117,G/0.883;NP=2;NP=4;NP=621;PC=0.001;Gene=THRB/NM_000461.4/0;CC=c.-115+77514T>C;VC=Intron;Gene=THRB/NM_001128176.2/0;CC=c.-261+77549T>C;VC=Intron;Gene=THRB/NM_001128177.1/1;CC=c.-252+77514T>C;VC=Intron;Gene=THRB/NM_001252634.1/0;CC=c.-350+77514T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:142:16.11:2.04:14.07:1.00:1.00:1.00:60:104.8:0:0:51:86:27:NM_001128177.1(THRB) c.-252+77514T>C,NM_001128177.1(THRB) c.-252+77514T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 24546691 rs201362428 ATGTG A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.028;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:ATGTG,A:4:5:0:3:2,2:66,100:0.00,6.31:0.00,3.16:0.00,3.16:0.00,0.46:0.00,0.46:0.00,0.87:60,60:33.0,0.0:0,1:0,0:54,28:95,52:44,16:-,chr3 g.24546692_24546695delTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 24924847 rs397837329 TTGTG T,TTGTGTG 7 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=18;PC=0.095 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:21:TTGTG,TTGTGTG,T:4:3:1:3:1,1,2:12,34,102:0.00,3.08,6.74:0.00,3.08,-1.96:0.00,0.00,8.70:0.00,0.00,0.46:0.00,0.00,0.80:0.00,0.00,0.80:60,60,60:46.0,0.0,0.0:0,0,1:0,0,0:2,63,61:148,88,89:0,0,19:chr3 g.24924848_24924851delTGTG (intergenic),chr3 g.24924850_24924851dupTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 25198869 rs62235861 G GTA 15 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1661,GTA/0.8339;DB;DBA=NA;PAF=NA;NP=1;NP=23;NP=26;NP=303;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GTA:4:4:4:0:4:131:15.01:11.28:3.73:1.00:1.00:1.00:70:52.5:0:0:51:79:29:chr3 g.25198869_25198870insTA (intergenic),chr3 g.25198869_25198870insTA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 25198871 rs56141112 G A 15 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.1661,A/0.8339;NP=1;NP=2;NP=4;NP=4;NP=43;NP=46 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:132:15.11:11.38:3.73:1.00:1.00:1.00:70:52.5:4:0:55:75:29:chr3 g.25198870G>A (intergenic),chr3 g.25198870G>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 25215670 rs12152294 A G 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.9539,G/0.04613 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:6:6:0:0:1,5:34,145:0.00,15.71:0.00,15.71:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,42.8:0,0:0,0:120,40:31,110:0,23:-,chr3 g.25215669A>G (intergenic):-,0.05:-,NOT_FOUND 3 25216071 . G . . NT END=25300532;NT GT ./. 3 25216312 rs17577540 C G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9651,G/0.03494;Gene=RARB/NM_001290216.1/0;CC=c.178+246C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,G:6:0:0:0:2,4:72,134:0.00,13.65:0.00,0.00:0.00,13.65:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,51.5:0,0:0,0:91,70:59,80:14,14:-,chr3 g.25216311C>G (intergenic):-,0.04:-,NOT_FOUND 3 25300486 rs322721 A T 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.4814,T/0.5186;PC=0.013;Gene=RARB/NM_001290216.1/0;CC=c.178+84420A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:37:33:0:0:13,24:413,747:0.00,75.70:0.00,48.99:0.00,26.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,34.5:0,0:0,0:57,74:94,75:25,42:-,chr3 g.25300485A>T (intergenic):-,0.57:-,NOT_FOUND 3 25300558 . G . . NT END=25301439;NT GT ./. 3 25301453 . G . . NT END=25387438;NT GT ./. 3 25387455 . g . . NT END=25469753;NT GT ./. 3 25470380 . G . . NT END=25502683;NT GT ./. 3 25502833 . G . . NT END=25542672;NT GT ./. 3 25542815 . G . . NT END=25611248;NT GT ./. 3 25611410 . G . . NT END=25622036;NT GT ./. 3 25611472 rs67669779 GAC G 19 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=38;PC=0.001;Gene=RARB/NM_001290216.1/0;CC=c.630+102_630+103delAC;VC=Intron;Gene=RARB/NM_001290300.1/0;CC=c.480+102_480+103delAC;VC=Intron;Gene=RARB/NM_000965.4/1;CC=c.609+102_609+103delAC;VC=Intron;Gene=RARB/NM_001290266.1/0;CC=c.462+102_462+103delAC;VC=Intron;Gene=RARB/NM_001290276.1/0;CC=c.273+102_273+103delAC;VC=Intron;Gene=RARB/NM_001290277.1/0;CC=c.609+102_609+103delAC;VC=Intron;Gene=RARB/NM_016152.3/0;CC=c.273+102_273+103delAC;VC=Intron;Gene=RARB/NR_110892.1/0;VC=NonCoding;Gene=RARB/NR_110893.1/0;VC=NonCoding;Gene=RARB/NM_001290217.1/0;CC=c.273+102_273+103delAC;VC=Intron;DM=RARB/zf-C4;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:GAC,T,G:34:16:0:15:25,1,8:763,10,282:0.00,-0.07,18.87:0.00,-0.10,2.25:0.00,0.03,16.63:0.00,0.00,0.98:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:13.3,60.0,27.6:0,0,2:0,0,0:114,40,85:30,95,64:25,0,17:-,NM_000965.3(RARB) c.609+64_609+65delAC:-,NOT_FOUND:-,NOT_FOUND 3 25622214 . G . . NT END=25634993;NT GT ./. 3 25635199 . G . . NT END=25636010;NT GT ./. 3 25635743 rs2278480 T C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5258,C/0.4742;PC=0.002;Gene=RARB/NM_001290216.1/0;CC=c.1013-268T>C;VC=Intron;Gene=RARB/NM_001290300.1/0;CC=c.863-268T>C;VC=Intron;Gene=RARB/NM_000965.4/1;CC=c.992-268T>C;VC=Intron;Gene=RARB/NM_001290266.1/0;CC=c.845-268T>C;VC=Intron;Gene=RARB/NM_001290276.1/0;CC=c.656-268T>C;VC=Intron;Gene=RARB/NM_001290277.1/0;CC=c.854-268T>C;VC=Intron;Gene=RARB/NM_016152.3/0;CC=c.656-268T>C;VC=Intron;Gene=RARB/NR_110892.1/0;VC=NonCoding;Gene=RARB/NR_110893.1/0;VC=NonCoding;Gene=RARB/NM_001290217.1/0;CC=c.656-268T>C;VC=Intron;DM=RARB/Hormone_recep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:5:5:0:0:3,2:100,66:9.97,0.00:9.97,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:40.3,5.0:0,0:0,0:66,83:85,68:54,47:NM_000965.3(RARB) c.992-268T>C,-:0.44,-:NOT_FOUND,- 3 25636170 . G . . NT END=25637910;NT GT ./. 3 25638108 . G . . NT END=25639797;NT GT ./. 3 25639828 rs61739570 T A 158 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.977,A/0.02296;PC=0.178;Gene=TOP2B/NM_001068.3/1;CC=c.4836A>T;ProtCh=p.E1612D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:88:65:0:0:49,39:1610,1287:158.12,0.00:112.81,0.00:45.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.2,4.3:0,0:0,0:83,70:63,81:25,37:NM_001068.2(TOP2B) c.4836A>T (p.Glu1612Asp),-:0.02,-:0.031899,- 3 25639969 . C . . NT END=25640925;NT GT ./. 3 25639973 rs11372851 A AT 81 rn VT=INS;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.5891,AT/0.4109,ATT/.;NP=1903;NP=2;Gene=TOP2B/NM_001068.3/1;CC=c.4696-6dupA;VC=Intron;DM=TOP2B/DTHCT;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:64:27:27:0:37,27:1152,873:0.00,81.28:0.00,19.98:0.00,61.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,7.1:0,0:0,0:106,74:42,56:26,34:-,NM_001068.2(TOP2B) c.4696-6_4696-5insA:-,NOT_FOUND:-,0.414602 3 25641021 . C . . NT END=25642590;NT GT ./. 3 25641088 rs41285071 A G 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.9902,G/0.009784;Gene=TOP2B/NM_001068.3/1;CC=c.4601-68T>C;VC=Intron;DM=TOP2B/DTHCT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:46:14:0:0:23,1,22:689,12,735:0.00,0.07,70.49:0.00,-0.04,14.33:0.00,0.11,56.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.2,125.0,35.9:0,0,0:0,0,0:105,19,122:46,132,23:26,0,18:-,NM_001068.2(TOP2B) c.4601-68T>C:-,0.01:-,NOT_FOUND 3 25642717 . C . . NT END=25646250;NT GT ./. 3 25644832 rs146634607 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9902,T/0.009784;Gene=TOP2B/NM_001068.3/1;CC=c.4474+1419G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,T:4:3:0:0:1,3:36,104:0.00,10.85:0.00,3.25:0.00,7.60:0.00,0.85:0.00,0.99:0.00,0.99:60,60:30.0,34.7:0,0:0,0:38,54:104,81:0,8:-,NM_001068.2(TOP2B) c.4474+1419G>A:-,0.01:-,NOT_FOUND 3 25646362 . C . . NT END=25647533;NT GT ./. 3 25647614 . C . . NT END=25648661;NT GT ./. 3 25648590 rs114592386 A G 71 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.9904,G/0.009585;PC=0.001;Gene=TOP2B/NM_001068.3/1;CC=c.4283+72T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:51:44:0:0:27,24:857,752:0.00,71.35:0.00,49.25:0.00,22.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,36.6:0,0:0,0:44,40:99,107:20,31:-,NM_001068.2(TOP2B) c.4283+72T>C:-,0.01:-,NOT_FOUND 3 25648867 . C . . NT END=25650673;NT GT ./. 3 25650836 . C . . NT END=25651058;NT GT ./. 3 25651204 . C . . NT END=25654005;NT GT ./. 3 25653998 rs41285073 T C 74 nt VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.9902,C/0.009784,G/.;Gene=TOP2B/NM_001068.3/1;CC=c.3771+8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:46:0:0:27,26:774,840:74.13,0.00:53.97,0.00:20.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.7,7.2:0,0:0,0:47,40:100,109:26,26:NM_001068.2(TOP2B) c.3771+8A>G,-:0.01,-:0.018922,- 3 25654201 . C . . NT END=25656695;NT GT ./. 3 25656780 . C . . NT END=25656921;NT GT ./. 3 25657078 . C . . NT END=25659908;NT GT ./. 3 25660001 . C . . NT END=25660144;NT GT ./. 3 25660341 . C . . NT END=25661352;NT GT ./. 3 25660347 rs41285075 A G 75 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.9904,G/0.009585;PC=0.984;Gene=TOP2B/NM_001068.3/1;CC=c.3049-7T>C;VC=Intron;DM=TOP2B/DNA_topoisoIV;DM=TOP2B/DNA_topoisoIV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:12:0:0:23,24:697,775:0.00,74.82:0.00,7.92:0.00,66.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,39.9:0,0:0,0:83,105:67,45:29,23:-,NM_001068.2(TOP2B) c.3049-7T>C:-,0.01:-,0.01832 3 25661092 rs77401651 A G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9902,G/0.009784;Gene=TOP2B/NM_001068.3/1;CC=c.3048+261T>C;VC=Intron;DM=TOP2B/DNA_topoisoIV;DM=TOP2B/DNA_topoisoIV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:4:4:0:0:1,3:32,100:0.00,10.45:0.00,10.45:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,33.3:0,0:0,0:8,93:142,57:0,45:-,NM_001068.2(TOP2B) c.3048+261T>C:-,0.01:-,NOT_FOUND 3 25661554 . C . . NT END=25662172;NT GT ./. 3 25662308 . C . . NT END=25665005;NT GT ./. 3 25665238 . C . . NT END=25665787;NT GT ./. 3 25665937 . C . . NT END=25666172;NT GT ./. 3 25666295 . C . . NT END=25668050;NT GT ./. 3 25668166 . C . . NT END=25668262;NT GT ./. 3 25668356 . C . . NT END=25668677;NT GT ./. 3 25668788 . C . . NT END=25670337;NT GT ./. 3 25670444 . C . . NT END=25670525;NT GT ./. 3 25670637 . C . . NT END=25671519;NT GT ./. 3 25671646 . C . . NT END=25671802;NT GT ./. 3 25671961 . C . . NT END=25672291;NT GT ./. 3 25672431 . C . . NT END=25673936;NT GT ./. 3 25674075 . C . . NT END=25674183;NT GT ./. 3 25674286 . C . . NT END=25675331;NT GT ./. 3 25675506 . C . . NT END=25677426;NT GT ./. 3 25675637 rs1344827 T C 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6222,C/0.3778;Gene=TOP2B/NM_001068.3/1;CC=c.838-132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:0:0:0:11,16:325,543:29.81,0.00:0.00,0.00:29.81,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.0,8.2:0,0:0,0:90,103:59,47:11,17:NM_001068.2(TOP2B) c.838-132A>G,-:0.34,-:NOT_FOUND,- 3 25677640 . C . . NT END=25678705;NT GT ./. 3 25678804 . C . . NT END=25679655;NT GT ./. 3 25679802 . C . . NT END=25683812;NT GT ./. 3 25679805 rs566082608 TAAAAAAAAAAAAAAAAAAAAAAAA T 16 idl,nt VT=DEL;SST=Single;DP=100;DB;DBA=NA;PAF=TAAAAAAAAAAAAAAAAAAAAAAAA/0.6917,T/0.3083;NP=5;Gene=TOP2B/NM_001068.3/1;CC=c.381-28_381-5delTTTTTTTTTTTTTTTTTTTTTTTT;VC=Intron;DM=TOP2B/HATPase_c;DM=TOP2B/HATPase_c;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,TAAAAAAAAAAAAAAAAAAAAAAAA,T:92:82:0:17:1,83,8:13,2377,468:-0.17,0.00,16.46:-0.10,0.00,6.79:-0.07,0.00,9.67:0.00,0.00,0.92:0.00,0.00,0.99:0.00,0.00,0.81:57,60,60:70.0,9.2,23.6:0,0,8:0,0,0:72,102,77:39,38,72:0,25,21:-,NM_001068.2(TOP2B) c.381-28_381-5delTTTTTTTTTTTTTTTTTTTTTTTT:-,NOT_FOUND:-,0.028929 3 25683877 . C . . NT END=25685184;NT GT ./. 3 25685074 rs185762382 A C 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.9902,C/0.009784;PC=0.585;Gene=TOP2B/NM_001068.3/1;CC=c.316+111T>G;VC=Intron;DM=TOP2B/HATPase_c;DM=TOP2B/HATPase_c GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:21:21:0:0:11,10:359,330:0.00,31.46:0.00,29.63:0.00,1.83:0.00,1.00:0.00,1.00:0.00,0.65:60,60:0.0,39.6:0,0:0,0:55,66:96,85:20,27:-,NM_001068.2(TOP2B) c.316+111T>G:-,0.01:-,NOT_FOUND 3 25685276 . C . . NT END=25686790;NT GT ./. 3 25685315 rs74876478 C G 51 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.9904,G/0.009585;Gene=TOP2B/NM_001068.3/1;CC=c.226-40G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:47:24:0:0:1,29,17:13,909,560:0.07,0.00,50.94:-0.12,0.00,11.21:0.19,0.00,39.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:100.0,13.4,41.6:0,0,0:0,0,0:109,96,109:28,38,42:0,37,24:-,NM_001068.2(TOP2B) c.226-40G>C:-,0.01:-,0.01907 3 25686962 . C . . NT END=25705719;NT GT ./. 3 25705758 rs145455403 C T 333 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=236;DB;DBA=NA;PAF=C/0.991,T/0.008986;PC=0.194;Gene=TOP2B/NM_001068.3/1;CC=c.31G>A;ProtCh=p.A11T;VC=Missense;DM=TOP2B/DNA_topoisoIV GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:236:181:0:0:2,119,1,114:20,3919,9,3483:-0.25,0.00,-0.17,332.51:-0.09,0.00,-0.09,171.18:-0.16,0.00,-0.08,161.33:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:124.0,16.3,116.0,37.4:0,0,0,0:0,0,0,0:57,69,110,68:93,78,36,78:2,35,0,37:-,NM_001068.2(TOP2B) c.31G>A (p.Ala11Thr):-,0.02:-,0.014232 3 25706130 rs553666816 C A 275 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=182;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:182:113:0:0:93,89:2851,2802:274.70,0.00:128.02,0.00:146.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,16.9:0,0:0,0:73,80:72,69:30,31:NM_001068.2(TOP2B) c.1-u342G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 25706277 rs10433573 A C 330 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=198;DB;DBA=NA;PAF=A/0.626,C/0.374;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:198:137:0:0:85,112,1:2793,3355,7:0.00,330.28,-0.16:0.00,160.92,-0.07:0.00,169.36,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.5,48.0,30.0:0,0,0:0,0,0:68,71,115:78,76,36:36,35,0:-,NM_001068.2(TOP2B) c.1-u489T>G:-,0.34:-,NOT_FOUND 3 25706322 . G . . NT END=25760950;NT GT ./. 3 25728645 rs17528125 C G 7 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.989,G/0.01098;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,G:4:0:0:0:2,2:51,68:0.00,6.55:0.00,0.00:0.00,6.55:0.00,0.51:0.00,0.00:0.00,0.51:60,60:15.0,34.0:0,0:0,0:56,96:94,55:24,54:-,chr3 g.25728644C>G (intergenic):-,0.01:-,NOT_FOUND 3 25761127 . C . . NT END=25761504;NT GT ./. 3 25761373 rs5847370 A AT 25 idl,rn VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.3864,AT/0.6136,ATT/.;DB;DBA=NA;PAF=A/0.3864,AT/0.6136;NP=635;PC=0.003;Gene=NGLY1/NM_001145293.1/0;CC=c.1735+131_1735+132insA;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.1612-248_1612-247insA;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.1789+131_1789+132insA;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.1663+131_1663+132insA;VC=Intron;DM=NGLY1/PAW;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,T,AT:12:12:11:0:3,1,8:97,27,302:0.00,1.92,24.74:0.00,1.95,18.36:0.00,-0.03,6.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.91:60,60,60:33.0,27.0,52.8:0,0,3:0,0,0:99,95,51:52,55,100:2,0,34:-,NM_018297.3(NGLY1) c.1789+131_1789+132insA:-,NOT_FOUND:-,NOT_FOUND 3 25761683 . C . . NT END=25770623;NT GT ./. 3 25770810 . C . . NT END=25773809;NT GT ./. 3 25773597 rs10780014 T G 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.3123,G/0.6877;PC=0.008;Gene=NGLY1/NM_001145293.1/0;CC=c.1371+213A>C;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.1425+213A>C;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.1425+213A>C;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.1299+213A>C;VC=Intron;DM=NGLY1/PAW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:8:0:0:8:244:28.17:28.17:0.00:1.00:1.00:0.00:60:45.2:0:0:39:111:17:NM_018297.3(NGLY1) c.1425+213A>C,NM_018297.3(NGLY1) c.1425+213A>C:0.73,0.73:NOT_FOUND,NOT_FOUND 3 25773975 . C . . NT END=25775362;NT GT ./. 3 25775253 rs1488992 T C 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.2967,C/0.7033;Gene=NGLY1/NM_001145293.1/0;CC=c.1206+110A>G;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.1260+110A>G;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.1260+110A>G;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.1134+110A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:383:44.44:44.44:0.00:1.00:1.00:0.00:60:75.3:0:0:36:115:34:NM_018297.3(NGLY1) c.1260+110A>G,NM_018297.3(NGLY1) c.1260+110A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 3 25775356 rs6550987 A C 174 nt VT=SNV;PN=C;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.1997,C/0.8003;PC=0.631;Gene=NGLY1/NM_001145293.1/0;CC=c.1206+7T>G;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.1260+7T>G;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.1260+7T>G;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.1134+7T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:132:C,G:50:47:0:0:49,1:1511,6:173.97,0.06:137.92,0.06:36.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,171.0:0,0:0,0:30,109:117,41:24,0:NM_018297.3(NGLY1) c.1260+7T>G,NM_018297.3(NGLY1) c.1260+7T>G:0.83,0.83:0.821928,0.821928 3 25775589 . g . . NT END=25776206;NT GT ./. 3 25776136 rs181177043 G C 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=4;Gene=NGLY1/NM_001145293.1/0;CC=c.1096-663C>G;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.1150-663C>G;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.1150-663C>G;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.1024-663C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:30:29:0:0:13,17:449,592:42.19,0.00:38.60,0.00:3.59,0.00:1.00,0.00:1.00,0.00:0.73,0.00:60,60:49.9,6.4:0,0:0,0:70,73:80,78:32,24:NM_018297.3(NGLY1) c.1150-663C>G,-:0.0014,-:NOT_FOUND,- 3 25776281 rs11129204 A G 341 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.2969,G/0.7031;Gene=NGLY1/NM_001145293.1/0;CC=c.1096-808T>C;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.1150-808T>C;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.1150-808T>C;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.1024-808T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:88:63:0:0:88:2987:340.59:187.68:152.91:1.00:1.00:1.00:60:59.4:0:0:62:86:22:NM_018297.3(NGLY1) c.1150-808T>C,NM_018297.3(NGLY1) c.1150-808T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 3 25776351 rs11129205 T G 342 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.4008,G/0.5992;Gene=NGLY1/NM_001145293.1/0;CC=c.1096-878A>C;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.1150-878A>C;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.1150-878A>C;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.1024-878A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:91:57:0:0:91:2989:342.15:158.94:183.20:1.00:1.00:1.00:60:60.0:0:0:98:49:34:NM_018297.3(NGLY1) c.1150-878A>C,NM_018297.3(NGLY1) c.1150-878A>C:0.66,0.66:NOT_FOUND,NOT_FOUND 3 25776450 . g . . NT END=25777413;NT GT ./. 3 25777892 . C . . NT END=25778824;NT GT ./. 3 25778947 . C . . NT END=25781067;NT GT ./. 3 25779035 rs371935487 A AT 27 idl,rn VT=INS;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=7;Gene=NGLY1/NM_001145293.1/0;CC=c.882-90_882-89insA;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.882-90_882-89insA;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.882-90_882-89insA;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.756-90_756-89insA;VC=Intron;DM=NGLY1/Transglut_core;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT,D:76:38:14:6:59,1,11,5:1895,13,440,188:0.00,-0.09,27.28,10.52:0.00,-0.11,4.25,6.77:0.00,0.03,23.03,3.75:0.00,0.00,0.99,0.00:0.00,0.00,0.98,0.00:0.00,0.00,1.00,0.00:60,49,60,60:19.8,193.0,44.4,8.6:1,0,3,1:0,0,0,0:102,2,88,66:36,148,62,75:31,0,25,26:-,NM_018297.3(NGLY1) c.882-90_882-89insA:-,NOT_FOUND:-,NOT_FOUND 3 25781291 . C . . NT END=25792588;NT GT ./. 3 25791435 rs74330158 CAA C 15 idl,rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CAA/0.2228,C/0.7772;NP=69;PC=0.934;Gene=NGLY1/NM_001145293.1/0;CC=c.658+1152_658+1153delTT;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.658+1152_658+1153delTT;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.658+1152_658+1153delTT;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.532+1152_532+1153delTT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:CAA,C:10:3:0:12:4,6:111,236:0.00,14.77:0.00,-1.99:0.00,16.76:0.00,0.97:0.00,0.86:0.00,0.97:60,60:40.5,90.0:0,3:0,0:129,99:16,46:4,16:-,NM_018297.3(NGLY1) c.658+1152_658+1153delTT:-,NOT_FOUND:-,NOT_FOUND 3 25792755 . C . . NT END=25805556;NT GT ./. 3 25792762 . G GA 18 idl,rn VT=INS;SST=Single;DP=60;NP=2;Gene=NGLY1/NM_001145293.1/0;CC=c.493-9dupT;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.493-9dupT;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.493-9dupT;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.367-9dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:A,G,GA,D:59:22:8:5:1,46,8,4:10,1380,238,155:-0.18,0.00,17.78,8.04:-0.09,0.00,6.95,2.57:-0.10,0.00,10.83,5.47:0.00,0.00,0.95,0.00:0.00,0.00,0.90,0.00:0.00,0.00,0.99,0.00:60,60,60,60:125.0,22.0,21.4,20.0:0,0,0,1:0,0,0,0:23,96,92,71:128,51,59,61:0,20,20,18:-,NM_018297.3(NGLY1) c.493-9_493-8insT:-,NOT_FOUND:-,NOT_FOUND 3 25805300 rs2886127 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3742,C/0.6258;Gene=NGLY1/NM_001145293.1/0;CC=c.492+257A>G;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.492+257A>G;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.492+257A>G;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.366+257A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:67.0:0:0:32:118:7:NM_018297.3(NGLY1) c.492+257A>G,NM_018297.3(NGLY1) c.492+257A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 3 25805390 rs2101477 C T 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1669;Gene=NGLY1/NM_001145293.1/0;CC=c.492+167G>A;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.492+167G>A;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.492+167G>A;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.366+167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G,T:24:24:0:0:1,23:20,668:1.13,77.25:1.13,77.25:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:30.0,44.3:0,0:0,0:85,49:66,102:0,32:NM_018297.3(NGLY1) c.492+167G>A,NM_018297.3(NGLY1) c.492+167G>A:1,1:NOT_FOUND,NOT_FOUND 3 25805803 . C . . NT END=25820064;NT GT ./. 3 25805879 rs11129208 T C 146 nt VT=SNV;PN=A;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.3127,C/0.6873;Gene=NGLY1/NM_001145293.1/0;CC=c.247-77A>G;VC=Intron;Gene=NGLY1/NM_001145295.1/0;CC=c.247-77A>G;VC=Intron;Gene=NGLY1/NM_018297.3/0;CC=c.247-77A>G;VC=Intron;Gene=NGLY1/NM_001145294.1/1;CC=c.121-77A>G;VC=Intron;DM=NGLY1/PUB;DM=NGLY1/PUB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:C:45:10:0:0:45:1250:145.90:24.14:121.76:1.00:1.00:1.00:60:34.2:0:0:105:37:23:NM_018297.3(NGLY1) c.247-77A>G,NM_018297.3(NGLY1) c.247-77A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 3 25820180 . C . . NT END=25824750;NT GT ./. 3 25824990 . T . . NT END=25831351;NT GT ./. 3 25825033 rs201008181 C T 145 nt VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=62;Gene=NGLY1/NM_001145294.1/1;CC=c.6-4854G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,G,T:53:25:0:0:5,4,44:108,29,1309:0.00,0.97,144.53:0.00,0.74,48.64:0.00,0.23,95.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:78.6,32.5,39.1:1,0,0:0,0,0:33,118,124:97,16,20:13,18,13:NM_017897.2(OXSM) c.-107-u6530C>T,NM_017897.2(OXSM) c.-107-u6530C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 25825087 . A G 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;PC=0.001;Gene=NGLY1/NM_001145294.1/1;CC=c.6-4908T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,G:15:2:0:0:10,5:292,84:0.00,6.60:0.00,-0.35:0.00,6.95:0.00,0.89:0.00,0.63:0.00,0.99:60,60:32.6,93.8:0,0:0,0:63,51:70,100:22,26:-,NM_017897.2(OXSM) c.-107-u6476A>G:-,NOT_FOUND:-,NOT_FOUND 3 25831357 . C . . NT END=25832511;NT GT ./. 3 25833489 . G . . NT END=25835582;NT GT ./. 3 25835986 . A . . NT END=26751163;NT GT ./. 3 25836023 rs9831075 C T 114 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.259,T/0.741;Gene=OXSM/NM_001145391.1/1;CC=c.*38C>T;VC=3UTR;Gene=OXSM/NM_017897.2/0;CC=c.*38C>T;VC=3UTR;Gene=OXSM/NR_026937.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:T:32:11:0:0:32:993:114.48:25.04:89.44:1.00:1.00:1.00:60:48.8:0:0:100:49:33:NM_017897.2(OXSM) c.*38C>T,NM_017897.2(OXSM) c.*38C>T:0.78,0.78:0.764567,0.764567 3 25836088 rs9834955 C A 70 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.253,A/0.747 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:1:0:0:19:611:70.16:1.99:68.17:1.00:1.00:1.00:60:63.3:0:0:121:28:17:NM_001145294.1(NGLY1) c.-174-u4558G>T,NM_001145294.1(NGLY1) c.-174-u4558G>T:0.78,0.78:NOT_FOUND,NOT_FOUND 3 25836182 rs9855105 T C 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2578,C/0.7422 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:153:18.11:0.00:18.11:1.00:0.00:1.00:60:52.7:0:0:75:75:29:NM_001145294.1(NGLY1) c.-174-u4652A>G,NM_001145294.1(NGLY1) c.-174-u4652A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 25836263 rs9855280 T G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3746,G/0.6254;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:120:13.91:0.00:13.91:1.00:0.00:1.00:60:53.5:0:0:121:29:14:NM_001145294.1(NGLY1) c.-174-u4733A>C,NM_001145294.1(NGLY1) c.-174-u4733A>C:0.68,0.68:NOT_FOUND,NOT_FOUND 3 25939410 rs565882721 TACACACACACAC T 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=97;PC=0.002;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:TACACACACACAC,T:7:6:0:4:3,4:96,126:0.00,12.43:0.00,4.41:0.00,8.02:0.00,0.90:0.00,0.99:0.00,0.99:60,60:1.7,8.2:0,0:0,0:90,49:33,86:0,14:-,chr3 g.25939411_25939422delACACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 26356299 rs60686714 C CTG 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9539,CTGTG/.,CTGTGTG/.,CTGTGTGTG/0.04613,CTGTGTGTGTGTG/.;DB;DBA=NA;PAF=C/0.9197,CTGTGTGTGTGTG/0.08027;NP=1;NP=6;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,CTG:4:3:3:0:1,3:35,88:0.00,9.25:0.00,6.00:0.00,3.25:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,8.3:0,0:0,0:102,79:41,72:0,12:-,chr3 g.26356299_26356300insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 26650959 rs34230476 C CTG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=249;NP=3;PC=0.535;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,CTG:6:5:3:0:3,3:80,102:0.00,9.83:0.00,2.68:0.00,7.15:0.00,0.73:0.00,0.96:0.00,0.89:60,60:31.7,14.7:0,0:0,0:24,39:127,111:8,4:-,chr3 g.26650959_26650960insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 26751944 . T . . NT END=27152762;NT GT ./. 3 27152812 . C . . NT END=27157430;NT GT ./. 3 27157487 . C . . NT END=27157565;NT GT ./. 3 27157619 . C . . NT END=27161250;NT GT ./. 3 27157830 rs2272075 C T 13 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7961,T/0.2039;Gene=NEK10/NM_001031741.3/0;CC=c.1268-212G>A;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.1298-212G>A;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.3362-212G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,T:6:0:0:0:2,4:65,131:0.00,13.35:0.00,0.00:0.00,13.35:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,38.5:0,0:0,0:101,57:49,92:3,18:-,chr3 g.27157829C>T (intergenic):-,0.2:-,NOT_FOUND 3 27161360 . C . . NT END=27173370;NT GT ./. 3 27173482 . C . . NT END=27182972;NT GT ./. 3 27183074 . C . . NT END=27204191;NT GT ./. 3 27204052 rs17854381 G A 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7993,A/0.2007,C/.;PC=1.000;Gene=NEK10/NM_001031741.3/0;CC=c.846C>T;ProtCh=p.H282=;VC=Silent;Gene=NEK10/NM_001304384.1/0;CC=c.846C>T;ProtCh=p.H282=;VC=Silent;Gene=NEK10/NM_152534.4/1;CC=c.2910C>T;ProtCh=p.H970=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:5:5:0:0:4,1:133,34:14.12,0.00:14.12,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:33.2,0.0:0,0:0,0:92,17:58,133:31,0:chr3 g.27204051G>A (intergenic),-:0.2,-:0.232201,- 3 27204310 . C . . NT END=27215879;NT GT ./. 3 27216017 . C . . NT END=27216140;NT GT ./. 3 27216325 . C . . NT END=27233519;NT GT ./. 3 27233376 rs11926580 G T 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.7969,T/0.2031;Gene=NEK10/NM_001031741.3/0;CC=c.441+144C>A;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.441+144C>A;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2505+144C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:18:0:0:8,10:251,275:0.00,26.86:0.00,26.86:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.8,45.5:0,0:0,0:53,52:97,94:28,33:-,chr3 g.27233375G>T (intergenic):-,0.2:-,NOT_FOUND 3 27233498 rs11926556 C A 72 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.7931,A/0.2069,T/.;Gene=NEK10/NM_001031741.3/0;CC=c.441+22G>T;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.441+22G>T;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2505+22G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:49:44:0:0:23,26:756,839:71.83,0.00:56.78,0.00:15.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,6.3:0,0:0,0:68,53:82,97:40,30:chr3 g.27233497C>A (intergenic),-:0.2,-:0.230663,- 3 27233734 . C . . NT END=27243000;NT GT ./. 3 27243045 rs17680166 G C 63 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.7949,C/0.2051;PC=0.930;Gene=NEK10/NM_001031741.3/0;CC=c.183C>G;ProtCh=p.V61=;VC=Silent;Gene=NEK10/NM_001304384.1/0;CC=c.183C>G;ProtCh=p.V61=;VC=Silent;Gene=NEK10/NM_152534.4/1;CC=c.2247C>G;ProtCh=p.V749=;VC=Silent;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:61:43:0:0:20,41:703,1258:63.12,0.00:30.61,0.00:32.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.1,14.3:0,0:0,0:74,58:65,78:15,29:chr3 g.27243044G>C (intergenic),-:0.2,-:0.232124,- 3 27243072 . C . . NT END=27243918;NT GT ./. 3 27243119 rs17680194 G A 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.7927,A/0.2073;Gene=NEK10/NM_001031741.3/0;CC=c.157-48C>T;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.157-48C>T;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2221-48C>T;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:15:0:0:12,26:389,837:34.34,0.00:7.10,0.00:27.25,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:81.8,10.0:0,0:0,0:125,114:22,31:18,17:chr3 g.27243118G>A (intergenic),-:0.2,-:0.233815,- 3 27243871 rs34940413 T C 72 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.7945,C/0.2055;PC=0.002;Gene=NEK10/NM_001031741.3/0;CC=c.156+48A>G;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.156+48A>G;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2220+48A>G;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:39:0:0:24,20:737,625:71.95,0.00:56.98,0.00:14.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,7.5:0,0:0,0:43,46:107,101:33,22:chr3 g.27243870T>C (intergenic),-:0.2,-:0.232201,- 3 27244078 . C . . NT END=27248058;NT GT ./. 3 27248022 rs34028315 T C 63 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.7945,C/0.2055;PC=0.003;Gene=NEK10/NM_001031741.3/0;CC=c.27-3974A>G;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.27-3974A>G;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2091-3974A>G;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:34:0:0:21,15:635,461:62.84,0.00:46.86,0.00:15.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,7.1:0,0:0,0:35,35:116,112:24,31:chr3 g.27248021T>C (intergenic),-:0.2,-:NOT_FOUND,- 3 27248143 . T . . NT END=27297786;NT GT ./. 3 27248163 rs4973755 G A 88 nt VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.7939,A/0.2061;PC=0.001;Gene=NEK10/NM_001031741.3/0;CC=c.27-4115C>T;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.27-4115C>T;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2091-4115C>T;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:22:0:0:27,18:884,584:88.13,0.00:27.55,0.00:60.58,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.0,8.1:0,0:0,0:102,91:45,47:26,27:chr3 g.27248162G>A (intergenic),-:0.21,-:NOT_FOUND,- 3 27248190 rs4973756 C T 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3898,T/0.6102;Gene=NEK10/NM_001031741.3/0;CC=c.27-4142G>A;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.27-4142G>A;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2091-4142G>A;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:36:15:0:0:14,22:394,715:0.00,71.59:0.00,18.31:0.00,53.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,65.9:0,0:0,0:102,107:48,43:33,28:-,chr3 g.27248189C>T (intergenic):-,0.58:-,NOT_FOUND 3 27248349 rs4973757 G A 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7945,A/0.2055;Gene=NEK10/NM_001031741.3/0;CC=c.27-4301C>T;VC=Intron;Gene=NEK10/NM_001304384.1/0;CC=c.27-4301C>T;VC=Intron;Gene=NEK10/NM_152534.4/1;CC=c.2091-4301C>T;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:8:0:0:0:3,5:95,159:8.63,0.00:0.00,0.00:8.63,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:31.7,12.4:0,0:0,0:135,32:16,118:4,2:chr3 g.27248348G>A (intergenic),-:0.2,-:NOT_FOUND,- 3 27280237 rs397989002 CGT C 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;PC=0.100;Gene=NEK10/NM_152534.4/1;CC=c.2090+17548_2090+17549delAC;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.2090+17548_2090+17549delAC;VC=Intron;DM=NEK10/Pkinase;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CGT,C:3:4:0:3:1,2:35,98:0.00,6.65:0.00,3.22:0.00,3.43:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,34.0:0,1:0,0:73,42:77,84:0,15:-,NM_199347.2(NEK10) c.2090+17548_2090+17549delAC:-,NOT_FOUND:-,NOT_FOUND 3 27297619 rs12488147 A T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7636,T/0.2364;Gene=NEK10/NM_152534.4/1;CC=c.2090+168T>A;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.2090+168T>A;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:A,T:12:12:0:0:7,5:189,154:0.00,14.27:0.00,14.27:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:15.3,67.4:0,0:0,0:44,35:106,115:10,35:-,NM_199347.2(NEK10) c.2090+168T>A:-,0.23:-,NOT_FOUND 3 27297684 rs12494667 C A 28 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7636,A/0.2364;Gene=NEK10/NM_152534.4/1;CC=c.2090+103G>T;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.2090+103G>T;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:17:0:0:9,8:285,234:27.70,0.00:27.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:58.1,18.0:0,0:0,0:57,96:94,49:33,18:NM_199347.2(NEK10) c.2090+103G>T,-:0.23,-:NOT_FOUND,- 3 27297816 rs3213930 G C 70 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.4075,C/0.5925,T/.;PC=0.017;Gene=NEK10/NM_152534.4/1;CC=c.2061C>G;ProtCh=p.T687=;VC=Silent;Gene=NEK10/NM_199347.3/0;CC=c.2061C>G;ProtCh=p.T687=;VC=Silent;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:49:37:0:0:22,27:740,913:69.86,0.00:38.42,0.00:31.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,6.1:0,0:0,0:46,55:99,96:20,23:NM_199347.2(NEK10) c.2061C>G (p.(=)),-:0.57,-:0.663565,- 3 27297863 . C . . NT END=27320151;NT GT ./. 3 27320015 rs73161139 T G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6955,G/0.3045;Gene=NEK10/NM_152534.4/1;CC=c.2014+6078A>C;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.2014+6078A>C;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:104:G,T:9:9:0:0:3,6:108,186:9.74,0.00:9.74,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:60,60:36.0,3.7:0,0:0,0:88,20:63,130:16,13:NM_199347.2(NEK10) c.2014+6078A>C,-:0.29,-:NOT_FOUND,- 3 27320355 rs62255589 A G 105 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.7522,G/0.2478;Gene=NEK10/NM_152534.4/1;CC=c.2014+5738T>C;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.2014+5738T>C;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:59:29:0:0:27,32:889,1070:0.00,104.61:0.00,41.05:0.00,63.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,44.1:0,0:0,0:64,90:87,57:37,31:-,NM_199347.2(NEK10) c.2014+5738T>C:-,0.24:-,NOT_FOUND 3 27320441 . C . . NT END=27326091;NT GT ./. 3 27326097 rs11129280 G T 46 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.7881,T/0.2119;PC=0.190;Gene=NEK10/NM_152534.4/1;CC=c.2010C>A;ProtCh=p.T670=;VC=Silent;Gene=NEK10/NM_199347.3/0;CC=c.2010C>A;ProtCh=p.T670=;VC=Silent;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:30:24:0:0:16,14:480,483:0.00,46.00:0.00,36.42:0.00,9.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,44.5:0,0:0,0:47,59:102,89:33,27:-,NM_199347.2(NEK10) c.2010C>A (p.(=)):-,0.21:-,0.234123 3 27326196 . C . . NT END=27326329;NT GT ./. 3 27326451 rs10510594 A G 82 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.7899,G/0.2101;PC=1.000;Gene=NEK10/NM_152534.4/1;CC=c.1791T>C;ProtCh=p.N597=;VC=Silent;Gene=NEK10/NM_199347.3/0;CC=c.1791T>C;ProtCh=p.N597=;VC=Silent;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:48:28:0:0:19,1,28:626,14,830:0.00,0.22,82.41:0.00,-0.08,33.24:0.00,0.30,49.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:2.4,14.0,37.4:0,0,0:0,0,0:56,114,56:95,37,79:39,0,34:-,NM_199347.2(NEK10) c.1791T>C (p.(=)):-,0.21:-,0.233261 3 27326453 . C . . NT END=27329187;NT GT ./. 3 27326553 rs34894168 AC A 42 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=AC/0.7885,A/0.2115;NP=688;Gene=NEK10/NM_152534.4/1;CC=c.1790-102delG;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.1790-102delG;VC=Intron;DM=NEK10/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,A:28:10:0:15:13,15:428,430:0.00,41.75:0.00,5.35:0.00,36.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,32.1:0,0:0,0:115,103:34,48:19,21:-,NM_199347.2(NEK10) c.1790-102delG:-,0.21:-,NOT_FOUND 3 27329235 . C . . NT END=27332106;NT GT ./. 3 27329417 rs10510593 A C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7935,C/0.2065;PC=0.310;Gene=NEK10/NM_152534.4/1;CC=c.1744-183T>G;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.1744-183T>G;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,C:9:0:0:0:4,5:116,171:0.00,16.80:0.00,0.00:0.00,16.80:0.00,0.96:0.00,0.00:0.00,0.96:60,60:2.8,36.2:0,0:0,0:86,99:65,51:18,10:-,NM_199347.2(NEK10) c.1744-183T>G:-,0.21:-,NOT_FOUND 3 27332246 . C . . NT END=27332751;NT GT ./. 3 27332282 rs62255594 C T 46 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.7907,T/0.2093;Gene=NEK10/NM_152534.4/1;CC=c.1606-37G>A;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.1606-37G>A;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:17:0:0:27,16:916,504:0.00,45.71:0.00,12.60:0.00,33.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,37.8:0,0:0,0:88,102:63,47:38,27:-,NM_199347.2(NEK10) c.1606-37G>A:-,0.21:-,0.237619 3 27332409 rs60936670 CTCAAAACA C 11 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=CTCAAAACA/0.401,C/0.599;DB;DBA=NA;PAF=CTCAAAACA/0.401,C/0.599;NP=456;Gene=NEK10/NM_152534.4/1;CC=c.1606-172_1606-165delTGTTTTGA;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.1606-172_1606-165delTGTTTTGA;VC=Intron;DM=NEK10/Pkinase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:CTCAAAACA,C:13:1:0:4:9,4:282,130:0.00,11.42:0.00,3.36:0.00,8.06:0.00,0.79:0.00,0.54:0.00,0.97:60,60:10.6,5.0:0,0:0,0:105,35:46,116:32,11:-,NM_199347.2(NEK10) c.1606-172_1606-165delTGTTTTGA:-,0.56:-,NOT_FOUND 3 27332820 rs10510592 A G 105 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.7885,G/0.2115;PC=1.000;Gene=NEK10/NM_152534.4/1;CC=c.1538T>C;ProtCh=p.L513S;VC=Missense;Gene=NEK10/NM_199347.3/0;CC=c.1538T>C;ProtCh=p.L513S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:67:46:0:0:32,35:1000,1089:0.00,105.43:0.00,62.57:0.00,42.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,38.7:0,0:0,0:84,51:66,84:39,42:-,NM_199347.2(NEK10) c.1538T>C (p.Leu513Ser):-,0.21:-,0.238835 3 27332882 . C . . NT END=27332973;NT GT ./. 3 27333078 . C . . NT END=27335077;NT GT ./. 3 27335144 . C . . NT END=27337102;NT GT ./. 3 27337182 . C . . NT END=27338668;NT GT ./. 3 27338732 . C . . NT END=27343185;NT GT ./. 3 27343327 . C . . NT END=27346236;NT GT ./. 3 27346463 . C . . NT END=27349348;NT GT ./. 3 27349437 . C . . NT END=27350415;NT GT ./. 3 27350384 rs77257134 G T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8047,T/0.1953;PC=0.001;Gene=NEK10/NM_152534.4/1;CC=c.716+33C>A;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.716+33C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:19:0:0:11,10:376,324:0.00,30.86:0.00,26.23:0.00,4.63:0.00,1.00:0.00,1.00:0.00,0.97:60,60:2.2,53.4:0,0:0,0:48,69:103,76:14,30:-,NM_199347.2(NEK10) c.716+33C>A:-,0.2:-,0.222633 3 27350497 . C . . NT END=27352438;NT GT ./. 3 27352213 rs11416748 G GA 14 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7961,GA/0.2039;NP=53;PC=0.001;Gene=NEK10/NM_152534.4/1;CC=c.636+226dupT;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.636+226dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GA:4:4:4:0:4:116:13.51:13.51:0.00:1.00:1.00:0.00:60:12.2:0:0:17:133:13:NM_199347.2(NEK10) c.636+226_636+227insT,NM_199347.2(NEK10) c.636+226_636+227insT:0.2,0.2:NOT_FOUND,NOT_FOUND 3 27352508 . C . . NT END=27353588;NT GT ./. 3 27353669 . C . . NT END=27355786;NT GT ./. 3 27353716 rs552647 C A 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.4022,A/0.5978;Gene=NEK10/NM_152534.4/1;CC=c.490-48G>T;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.490-48G>T;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:15:0:0:17,16:543,522:52.48,0.00:11.40,0.00:41.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,7.4:0,0:0,0:93,120:58,18:32,17:NM_199347.2(NEK10) c.490-48G>T,-:0.56,-:0.65,- 3 27355541 rs1472145 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7955,C/0.2045;PC=1.000;Gene=NEK10/NM_152534.4/1;CC=c.489+247A>G;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.489+247A>G;VC=Intron;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:7:7:0:0:4,3:130,96:12.83,0.00:12.83,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:48.5,5.3:0,0:0,0:35,9:115,142:3,9:NM_199347.2(NEK10) c.489+247A>G,-:0.2,-:NOT_FOUND,- 3 27355830 . C . . NT END=27363666;NT GT ./. 3 27363637 rs397807024 T TA 29 rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4776,TA/0.5224,TAA/.;DB;DBA=NA;PAF=T/0.4776,TA/0.5224;NP=684;PC=0.001;Gene=NEK10/NM_152534.4/1;CC=c.447+30dupT;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.447+30dupT;VC=Intron;DM=NEK10/Pkinase;DM=NEK10/Pkinase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA:24:23:11:0:14,10:421,341:0.00,28.50:0.00,23.51:0.00,4.99:0.00,1.00:0.00,1.00:0.00,0.99:60,60:5.6,10.4:0,1:0,0:34,23:115,125:22,14:-,NM_199347.2(NEK10) c.447+30_447+31insT:-,NOT_FOUND:-,NOT_FOUND 3 27363753 . C . . NT END=27385761;NT GT ./. 3 27385862 . C . . NT END=27387575;NT GT ./. 3 27387462 rs56104872 G GGTAA 75 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2065,GGTAA/0.7933,GGTAG/.,GTAA/0.0001997;NP=1;NP=10;Gene=NEK10/NM_152534.4/1;CC=c.263+114_263+115insTTAC;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.263+114_263+115insTTAC;VC=Intron;DM=NEK10/Pkinase;DM=NEK10/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:G,GGTAA:24:23:22:0:2,22:28,670:0.00,74.85:0.00,69.19:0.00,5.66:0.00,1.00:0.00,1.00:0.00,0.99:60,60:94.0,42.0:1,0:0,0:85,52:65,99:61,29:NM_199347.2(NEK10) c.263+114_263+115insTTAC,NM_199347.2(NEK10) c.263+114_263+115insTTAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 27387463 rs67123511 C A 82 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.2065,A/0.7935,G/.;DB;DBA=NA;PAF=NA;NP=5;Gene=NEK10/NM_152534.4/1;CC=c.263+114G>T;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.263+114G>T;VC=Intron;DM=NEK10/Pkinase;DM=NEK10/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A,C,G:25:23:0:0:23,1,1:727,10,23:81.85,0.00,1.38:74.17,0.00,1.38:7.68,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:41.5,124.0,64.0:22,1,0:0,0,0:48,25,148:103,126,2:29,0,0:NM_199347.2(NEK10) c.263+114G>T,NM_199347.2(NEK10) c.263+114G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 27387708 . C . . NT END=27393954;NT GT ./. 3 27394017 . C . . NT END=27394301;NT GT ./. 3 27394374 . T . . NT END=27418254;NT GT ./. 3 27394419 rs12494966 T G 48 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.7352,G/0.2648;PC=0.972;Gene=NEK10/NM_152534.4/1;CC=c.-37-9A>C;VC=Intron;Gene=NEK10/NM_199347.3/0;CC=c.-37-9A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:24:12:0:0:1,14,9:12,482,300:0.28,48.18,0.00:0.39,9.95,0.00:-0.10,38.23,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:160.0,40.2,10.3:0,0,0:0,0,0:138,91,94:13,59,56:0,29,11:NM_199347.2(NEK10) c.-37-9A>C,-:0.25,-:0.284091,- 3 27418337 . C . . NT END=27420739;NT GT ./. 3 27420848 . C . . NT END=27424643;NT GT ./. 3 27424718 rs1472256 A G 155 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.07228,G/0.9277;PC=0.001;Gene=SLC4A7/NM_001258380.1/0;CC=c.3117T>C;ProtCh=p.D1039=;VC=Silent;Gene=SLC4A7/NM_003615.4/1;CC=c.3489T>C;ProtCh=p.D1163=;VC=Silent;Gene=SLC4A7/NM_001258379.1/0;CC=c.3132T>C;ProtCh=p.D1044=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:G:43:25:0:0:43:1347:154.99:53.83:101.16:1.00:1.00:1.00:60:44.3:0:0:92:52:33:NM_003615.4(SLC4A7) c.3489T>C (p.(=)),NM_003615.4(SLC4A7) c.3489T>C (p.(=)):0.93,0.93:0.916808,0.916808 3 27424742 . C . . NT END=27427382;NT GT ./. 3 27427083 rs1472255 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.0601,G/0.9399;Gene=SLC4A7/NM_001258380.1/0;CC=c.3093+300T>C;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.3465+300T>C;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.3108+300T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:142:16.11:16.11:0.00:1.00:1.00:0.00:60:35.5:0:0:31:119:21:NM_003615.4(SLC4A7) c.3465+300T>C,NM_003615.4(SLC4A7) c.3465+300T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 27427225 rs1472254 A G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4677,G/0.5323;PC=0.002;Gene=SLC4A7/NM_001258380.1/0;CC=c.3093+158T>C;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.3465+158T>C;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.3108+158T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:10,8:323,255:0.00,23.92:0.00,23.92:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:1.0,63.2:0,0:0,0:36,69:114,80:29,13:-,NM_003615.4(SLC4A7) c.3465+158T>C:-,0.49:-,NOT_FOUND 3 27427515 . C . . NT END=27431421;NT GT ./. 3 27427616 rs17630711 A G 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.8742,G/0.1258;Gene=SLC4A7/NM_001258380.1/0;CC=c.2962-102T>C;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.3334-102T>C;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.2977-102T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:29:3:0:0:18,10,1:565,308,10:0.00,27.63,0.01:0.00,1.34,-0.03:0.00,26.29,0.04:0.00,1.00,0.00:0.00,0.74,0.00:0.00,1.00,0.00:60,60,60:8.2,60.9,64.0:0,0,0:0,0,0:122,117,122:27,34,29:11,24,0:-,NM_003615.4(SLC4A7) c.3334-102T>C:-,0.11:-,NOT_FOUND 3 27427692 rs34806095 TA T 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=5;PC=0.011;Gene=SLC4A7/NM_001258380.1/0;CC=c.2962-179delT;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.3334-179delT;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.2977-179delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:TA,I,T:7:0:1:5:2,1,4:64,23,125:0.00,1.76,9.29:0.00,0.00,0.00:0.00,1.76,9.29:0.00,0.00,0.87:0.00,0.00,0.00:0.00,0.00,0.87:60,60,60:38.5,60.0,79.0:0,0,1:0,0,0:49,80,83:101,70,68:16,0,43:-,NM_003615.4(SLC4A7) c.3334-179delT:-,NOT_FOUND:-,NOT_FOUND 3 27431596 . C . . NT END=27433230;NT GT ./. 3 27433300 . C . . NT END=27436008;NT GT ./. 3 27433397 rs2307035 A T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.6623,T/0.3377;Gene=SLC4A7/NM_001258380.1/0;CC=c.2719-98T>A;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.3091-98T>A;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.2734-98T>A;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:A,T:10:1:0:0:4,6:134,179:0.00,17.84:0.00,3.45:0.00,14.38:0.00,0.99:0.00,0.73:0.00,1.00:60,60:8.2,35.3:0,0:0,0:102,134:48,17:10,13:-,NM_003615.4(SLC4A7) c.3091-98T>A:-,0.38:-,NOT_FOUND 3 27435773 rs7623550 T G 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.07328,G/0.9267;Gene=SLC4A7/NM_001258380.1/0;CC=c.2718+236A>C;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.3090+236A>C;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.2733+236A>C;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:154:17.74:17.74:0.00:1.00:1.00:0.00:60:30.8:0:0:80:71:7:NM_003615.4(SLC4A7) c.3090+236A>C,NM_003615.4(SLC4A7) c.3090+236A>C:0.93,0.93:NOT_FOUND,NOT_FOUND 3 27436261 . C . . NT END=27436444;NT GT ./. 3 27436607 . C . . NT END=27439174;NT GT ./. 3 27439289 . C . . NT END=27439682;NT GT ./. 3 27439451 rs3736311 A G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8401,G/0.1599;Gene=SLC4A7/NM_001258380.1/0;CC=c.2191-163T>C;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.2563-163T>C;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.2206-163T>C;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:7:3:0:0:2,5:65,177:0.00,18.27:0.00,7.22:0.00,11.05:0.00,0.98:0.00,0.98:0.00,0.99:60,60:17.0,42.2:0,0:0,0:74,108:75,42:61,27:-,NM_003615.4(SLC4A7) c.2563-163T>C:-,0.14:-,NOT_FOUND 3 27439549 rs2055122 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.07788,T/0.9221;Gene=SLC4A7/NM_001258380.1/0;CC=c.2190+134G>A;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.2562+134G>A;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.2205+134G>A;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:8:0:0:9:287:32.99:29.01:3.98:1.00:1.00:1.00:60:38.0:0:0:37:113:21:NM_003615.4(SLC4A7) c.2562+134G>A,NM_003615.4(SLC4A7) c.2562+134G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 3 27439845 . C . . NT END=27442254;NT GT ./. 3 27442361 . C . . NT END=27444629;NT GT ./. 3 27444392 rs2055123 C T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6591,T/0.3409;Gene=SLC4A7/NM_001258380.1/0;CC=c.1922+238G>A;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.2294+238G>A;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.1937+238G>A;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:8:8:0:0:5,3:169,93:0.00,8.43:0.00,8.43:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:0.0,37.7:0,0:0,0:57,42:94,109:32,10:-,NM_003615.4(SLC4A7) c.2294+238G>A:-,0.38:-,NOT_FOUND 3 27444524 rs1967131 G C 48 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6585,C/0.3415;Gene=SLC4A7/NM_001258380.1/0;CC=c.1922+106C>G;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.2294+106C>G;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.1937+106C>G;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:36:34:0:0:16,20:512,683:48.07,0.00:46.89,0.00:1.17,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:45.4,3.6:0,0:0,0:43,51:100,99:27,20:NM_003615.4(SLC4A7) c.2294+106C>G,-:0.38,-:NOT_FOUND,- 3 27444876 . C . . NT END=27446320;NT GT ./. 3 27446455 . C . . NT END=27450846;NT GT ./. 3 27451022 . C . . NT END=27453132;NT GT ./. 3 27451106 rs9828914 G C 30 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.5739,C/0.4261;PC=1.000;Gene=SLC4A7/NM_001258380.1/0;CC=c.1368-85C>G;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.1740-85C>G;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.1383-85C>G;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:32:7:0:0:11,21:341,728:30.40,0.00:4.08,0.00:26.32,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:40.2,4.7:0,0:0,0:97,98:54,53:39,22:NM_003615.4(SLC4A7) c.1740-85C>G,-:0.46,-:NOT_FOUND,- 3 27453240 . C . . NT END=27459976;NT GT ./. 3 27460124 . C . . NT END=27462190;NT GT ./. 3 27462279 . C . . NT END=27463112;NT GT ./. 3 27463229 rs79251239 C T 100 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.9269,T/0.07308;PC=0.997;Gene=SLC4A7/NM_001258380.1/0;CC=c.909G>A;ProtCh=p.E303=;VC=Silent;Gene=SLC4A7/NM_003615.4/1;CC=c.1281G>A;ProtCh=p.E427=;VC=Silent;Gene=SLC4A7/NM_001258379.1/0;CC=c.924G>A;ProtCh=p.E308=;VC=Silent;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/Band_3_cyto;DM=SLC4A7/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:67:38:0:0:35,32:1099,1050:0.00,100.12:0.00,28.20:0.00,71.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,38.0:0,0:0,0:95,104:55,38:27,27:-,NM_003615.4(SLC4A7) c.1281G>A (p.(=)):-,0.11:-,0.159311 3 27463271 . C . . NT END=27465527;NT GT ./. 3 27463420 rs6551200 A C 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.07208,C/0.9279;Gene=SLC4A7/NM_001258380.1/0;CC=c.868-150T>G;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.1240-150T>G;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.883-150T>G;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/Band_3_cyto;DM=SLC4A7/Band_3_cyto;DM=SLC4A7/Band_3_cyto GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:0:0:0:10:296:34.32:0.00:34.32:1.00:0.00:1.00:60:41.1:0:0:111:39:30:NM_003615.4(SLC4A7) c.1240-150T>G,NM_003615.4(SLC4A7) c.1240-150T>G:0.93,0.93:NOT_FOUND,NOT_FOUND 3 27465644 . C . . NT END=27472788;NT GT ./. 3 27473161 . C . . NT END=27475406;NT GT ./. 3 27475596 . C . . NT END=27477878;NT GT ./. 3 27475722 rs372952966 CAAAT C 18 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CAAAT/0.8438,C/0.1562;DB;DBA=NA;PAF=CAAAT/0.8438,C/0.1562;NP=171;Gene=SLC4A7/NM_001258380.1/0;CC=c.563-131_563-128delATTT;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.563-131_563-128delATTT;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.578-131_578-128delATTT;VC=Intron;DM=SLC4A7/HCO3_cotransp;DM=SLC4A7/Band_3_cyto;DM=SLC4A7/Band_3_cyto;DM=SLC4A7/Band_3_cyto;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:CAAAT,C:20:1:0:6:14,6:431,201:0.00,17.67:0.00,-0.08:0.00,17.74:0.00,0.94:0.00,0.53:0.00,0.94:60,60:14.5,4.8:0,0:0,0:104,91:46,58:29,6:-,NM_003615.4(SLC4A7) c.563-131_563-128delATTT:-,0.13:-,NOT_FOUND 3 27478040 . C . . NT END=27478878;NT GT ./. 3 27478797 rs3732608 G A 30 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.8401,A/0.1599;Gene=SLC4A7/NM_001258380.1/0;CC=c.401+82C>T;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.401+82C>T;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.416+82C>T;VC=Intron;DM=SLC4A7/HCO3_cotransp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:10,13:322,397:30.13,0.00:26.64,0.00:3.49,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:37.0,6.2:0,0:0,0:86,40:60,111:26,19:NM_003615.4(SLC4A7) c.401+82C>T,-:0.14,-:NOT_FOUND,- 3 27478842 . CA C 12 rn VT=DEL;SST=Single;DP=37;NP=23;Gene=SLC4A7/NM_001258380.1/0;CC=c.401+36delT;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.401+36delT;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.416+36delT;VC=Intron;DM=SLC4A7/HCO3_cotransp;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:CA,I,C:36:30:3:5:29,2,5:930,92,155:0.00,4.22,11.72:0.00,4.42,5.80:0.00,-0.19,5.92:0.00,0.00,0.77:0.00,0.00,0.96:0.00,0.00,0.79:60,60,60:15.8,80.5,41.2:0,1,0:0,0,0:46,44,47:85,105,93:30,5,20:-,NM_003615.4(SLC4A7) c.401+36delT:-,NOT_FOUND:-,NOT_FOUND 3 27479018 . C . . NT END=27490141;NT GT ./. 3 27489996 rs9883830 A G 64 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.07248,G/0.9275;Gene=SLC4A7/NM_001258380.1/0;CC=c.262+146T>C;VC=Intron;Gene=SLC4A7/NM_003615.4/1;CC=c.262+146T>C;VC=Intron;Gene=SLC4A7/NM_001258379.1/0;CC=c.277+146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G,T:19:19:0:0:18,1:561,8:64.22,0.25:64.22,0.25:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.3,162.0:0,0:0,0:48,50:102,101:29,0:NM_003615.4(SLC4A7) c.262+146T>C,NM_003615.4(SLC4A7) c.262+146T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 3 27490289 . C . . NT END=27493907;NT GT ./. 3 27493990 . C . . NT END=27498141;NT GT ./. 3 27498469 . T . . NT END=27525557;NT GT ./. 3 27525403 rs148062123 GGGGATGGCGA G 18 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=GGGGATGGCGA/0.8401,G/0.1599;NP=68;Gene=SLC4A7/NM_001258379.1/0;CC=c.48+157_48+166delTCGCCATCCC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGGGATGGCGA,G:15:15:0:6:9,6:257,196:0.00,18.09:0.00,18.09:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:10.6,3.7:0,0:0,0:29,43:122,108:19,26:-,NM_001258379.1(SLC4A7) c.48+157_48+166delTCGCCATCCC:-,NOT_FOUND:-,NOT_FOUND 3 27525618 . G . . NT END=27758560;NT GT ./. 3 27525831 rs410934 T C 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.07348,A/.,C/0.9265,G/.;Gene=SLC4A7/NM_001258379.1/0;CC=c.-214A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:0:0:0:18:525:60.95:0.00:60.95:1.00:0.00:1.00:60:35.8:0:0:113:37:23:NM_001258379.1(SLC4A7) c.-214A>G,NM_001258379.1(SLC4A7) c.-214A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 3 27665791 rs6551218 A C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3576,C/0.6424,T/.;PC=0.071 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C:5:5:0:0:2,3:69,96:0.00,9.57:0.00,7.84:0.00,1.73:0.00,0.78:0.00,0.78:0.00,0.87:60,60:0.0,32.0:0,0:0,0:67,4:83,147:50,4:-,chr3 g.27665790A>C (intergenic):-,0.64:-,NOT_FOUND 3 27674379 . TCCGCCGCTGCCTCCGCG T 14 nt VT=DEL;SST=Single;DP=85;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:TCCGCCGCTGCCTCCGCG,T:85:47:0:7:78,7:2331,216:0.00,14.46:0.00,8.26:0.00,6.20:0.00,0.87:0.00,0.93:0.00,0.98:60,70:11.4,10.1:0,0:0,0:110,44:36,107:20,6:-,chr3 g.27674380_27674396delCCGCCGCTGCCTCCGCG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 27759300 . C . . NT END=27760077;NT GT ./. 3 27759322 rs397875858 TA T 41 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=35;PC=1.000;Gene=EOMES/NM_001278182.1/1;CC=c.1380-24delT;VC=Intron;Gene=EOMES/NM_001278183.1/0;CC=c.495-24delT;VC=Intron;Gene=EOMES/NM_005442.3/0;CC=c.1380-81delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:45:23:5:18:25,5,15:730,140,535:0.00,10.31,41.12:0.00,5.31,10.21:0.00,5.00,30.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:34.6,19.4,29.0:0,0,3:0,0,0:98,60,102:53,68,47:29,13,15:-,NM_005442.2(EOMES) c.1380-81delT:-,NOT_FOUND:-,NOT_FOUND 3 27759404 rs2581183 C T 28 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.9247,T/0.07528;Gene=EOMES/NM_001278182.1/1;CC=c.1380-105G>A;VC=Intron;Gene=EOMES/NM_001278183.1/0;CC=c.495-105G>A;VC=Intron;Gene=EOMES/NM_005442.3/0;CC=c.1380-162G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:3:0:0:13,11:404,299:0.00,27.89:0.00,-0.67:0.00,28.56:0.00,1.00:0.00,0.85:0.00,1.00:60,60:16.5,58.9:0,0:0,0:116,90:35,53:29,34:-,NM_005442.2(EOMES) c.1380-162G>A:-,0.1:-,NOT_FOUND 3 27760140 . C . . NT END=27760225;NT GT ./. 3 27760385 . C . . NT END=27760850;NT GT ./. 3 27760973 . C . . NT END=27761661;NT GT ./. 3 27761817 . C . . NT END=27762904;NT GT ./. 3 27764181 . C . . NT END=28282837;NT GT ./. 3 28131552 rs843935 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.003594,C/0.9964 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:3:0:0:4:110:12.74:5.97:6.78:1.00:1.00:1.00:60:41.8:0:0:73:58:5:chr3 g.28131551T>C (intergenic),chr3 g.28131551T>C (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 3 28282929 . G . . NT END=28283053;NT GT ./. 3 28283304 . G . . NT END=28295221;NT GT ./. 3 28294969 rs35232922 G A 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.853,A/0.147;PC=0.030;Gene=CMC1/NM_182523.1/1;CC=c.20-9813G>A;VC=Intron;DM=CMC1/Cmc1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:4:4:0:0:2,2:66,52:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:33.0,85.5:0,0:0,0:53,51:97,100:17,34:NM_182523.1(CMC1) c.20-9813G>A,-:0.19,-:NOT_FOUND,- 3 28295257 . G . . NT END=28304781;NT GT ./. 3 28304872 . G . . NT END=28335924;NT GT ./. 3 28336021 . G . . NT END=28357823;NT GT ./. 3 28351432 . CCACACA C 10 idl,rn VT=DEL;SST=Single;DP=10;NP=2;Gene=CMC1/NM_182523.1/1;CC=c.110-6348_110-6343delACACAC;VC=Intron;DM=CMC1/Cmc1;DM=CMC1/Cmc1;DM=CMC1/Cmc1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:CCACACA,C:8:8:0:9:4,4:94,161:0.00,9.63:0.00,2.28:0.00,7.35:0.00,0.99:0.00,0.97:0.00,0.97:60,60:35.2,77.2:0,2:0,0:108,69:38,70:12,21:-,NM_182523.1(CMC1) c.110-6391_110-6386delCACACA:-,NOT_FOUND:-,NOT_FOUND 3 28357915 . G . . NT END=28360999;NT GT ./. 3 28358057 rs11706332 C T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8371,T/0.1629;PC=0.023;Gene=CMC1/NM_182523.1/1;CC=c.200+143C>T;VC=Intron;DM=CMC1/Cmc1;DM=CMC1/Cmc1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:10:0:0:0:6,4:201,99:0.00,8.86:0.00,0.00:0.00,8.86:0.00,0.99:0.00,0.00:0.00,0.99:60,60:1.8,32.0:0,0:0,0:124,99:26,51:21,25:-,NM_182523.1(CMC1) c.200+143C>T:-,0.21:-,NOT_FOUND 3 28361121 . G . . NT END=28365532;NT GT ./. 3 28365946 . C . . NT END=28368322;NT GT ./. 3 28368442 . C . . NT END=28373179;NT GT ./. 3 28373154 rs13081520 T G 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.849,G/0.151;PC=0.001;Gene=AZI2/NM_001271650.1/1;CC=c.311+706A>C;VC=Intron;Gene=AZI2/NM_022461.4/0;CC=c.647+706A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:33:25:0:0:17,16:533,502:51.46,0.00:41.89,0.00:9.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,14.4:0,0:0,0:60,59:88,91:24,30:NM_022461.3(AZI2) c.647+706A>C,-:0.2,-:NOT_FOUND,- 3 28373446 . c . . NT END=28373859;NT GT ./. 3 28373462 rs139773536 C CA 36 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.8528,CA/0.1472,CAA/.;NP=284;Gene=AZI2/NM_001271650.1/1;CC=c.311+397_311+398insT;VC=Intron;Gene=AZI2/NM_022461.4/0;CC=c.647+397_647+398insT;VC=Intron;Gene=AZI2/NM_001134432.1/0;CC=c.648-18_648-17insT;VC=Intron;Gene=AZI2/NM_001134433.1/0;CC=c.648-22_648-21insT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA:32:10:12:0:20,12:605,396:0.00,36.15:0.00,7.76:0.00,28.39:0.00,1.00:0.00,0.98:0.00,1.00:60,60:8.1,5.4:0,0:0,0:118,87:31,63:28,35:-,NM_022461.3(AZI2) c.647+397_647+398insT:-,0.2:-,0.217664 3 28373919 . C . . NT END=28378227;NT GT ./. 3 28378377 . C . . NT END=28379427;NT GT ./. 3 28379528 . C . . NT END=28379983;NT GT ./. 3 28380107 . C . . NT END=28381892;NT GT ./. 3 28380143 rs144751419 GT G 72 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=GT/0.9946,G/0.005391;NP=61;Gene=AZI2/NM_001271650.1/1;CC=c.-120-38delA;VC=Intron;Gene=AZI2/NM_022461.4/0;CC=c.217-38delA;VC=Intron;Gene=AZI2/NM_001134432.1/0;CC=c.217-38delA;VC=Intron;Gene=AZI2/NM_001134433.1/0;CC=c.217-38delA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:46:16:0:24:22,24:709,744:0.00,72.03:0.00,12.48:0.00,59.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,10.8:0,0:0,0:104,85:32,64:34,34:-,NM_022461.3(AZI2) c.217-38delA:-,0.01:-,0.009826 3 28381887 rs3762797 A T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8484,T/0.1516;PC=0.310;Gene=AZI2/NM_001271650.1/1;CC=c.-121+6T>A;VC=Intron;Gene=AZI2/NM_022461.4/0;CC=c.216+6T>A;VC=Intron;Gene=AZI2/NM_001134432.1/0;CC=c.216+6T>A;VC=Intron;Gene=AZI2/NM_001134433.1/0;CC=c.216+6T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:15:14:0:0:8,7:231,230:0.00,21.85:0.00,17.40:0.00,4.45:0.00,0.99:0.00,1.00:0.00,0.99:60,60:15.4,39.0:0,0:0,0:56,49:81,100:32,18:-,NM_022461.3(AZI2) c.216+6T>A:-,0.2:-,0.219948 3 28382114 . C . . NT END=28390458;NT GT ./. 3 28390351 rs1870259 A G 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.5701,G/0.4299;Gene=AZI2/NM_001271650.1/1;CC=c.-665T>C;VC=5UTR;Gene=AZI2/NM_022461.4/0;CC=c.-265T>C;VC=5UTR;Gene=AZI2/NM_001134432.1/0;CC=c.-265T>C;VC=5UTR;Gene=AZI2/NM_001134433.1/0;CC=c.-265T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:47:0:0:22,25:672,739:0.00,71.69:0.00,71.69:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:10.6,38.2:0,0:0,0:50,36:100,115:30,25:-,NM_022461.3(AZI2) c.-265T>C:-,0.46:-,NOT_FOUND 3 28390695 . G . . NT END=28431986;NT GT ./. 3 28432109 . G . . NT END=28454546;NT GT ./. 3 28454892 . G . . NT END=28476600;NT GT ./. 3 28463325 rs71087697 T TTG 10 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=5;NP=8;PC=0.023;Gene=ZCWPW2/NM_001040432.2/1;CC=c.332+8477_332+8478insGT;VC=Intron;DM=ZCWPW2/PWWP;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:T,TTG:4:4:3:0:1,3:18,100:0.00,10.46:0.00,6.76:0.00,3.70:0.00,0.85:0.00,0.85:0.00,0.95:60,60:47.0,3.0:0,0:0,0:85,43:65,107:0,29:-,NM_001040432.1(ZCWPW2) c.332+8434_332+8435insTG:-,NOT_FOUND:-,NOT_FOUND 3 28476761 . G . . NT END=28520304;NT GT ./. 3 28476976 . CTT C 8 idl,rn VT=DEL;SST=Single;DP=11;PC=0.914;Gene=ZCWPW2/NM_001040432.2/1;CC=c.492+232_492+233delTT;VC=Intron;DM=ZCWPW2/PWWP;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CTT,I,C:10:2:1:5:6,1,3:202,32,121:0.00,2.39,7.71:0.00,-0.04,2.97:0.00,2.43,4.73:0.00,0.00,0.60:0.00,0.00,0.56:0.00,0.00,0.91:60,60,60:2.3,8.0,95.7:0,0,1:0,0,0:133,125,42:15,25,108:9,0,11:-,NM_001040432.1(ZCWPW2) c.492+217_492+218delTT:-,NOT_FOUND:-,NOT_FOUND 3 28520197 rs1982560 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5545,T/0.4455;Gene=ZCWPW2/NM_001040432.2/1;CC=c.493-108C>T;VC=Intron;DM=ZCWPW2/PWWP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,T:19:19:0:0:13,6:424,160:0.00,13.70:0.00,13.70:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:5.1,40.5:0,0:0,0:35,45:110,105:10,37:-,NM_001040432.1(ZCWPW2) c.493-108C>T:-,0.45:-,NOT_FOUND 3 28520417 rs1563656 T A 50 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.5453,A/0.4547;PC=0.002;Gene=ZCWPW2/NM_001040432.2/1;CC=c.605T>A;ProtCh=p.L202Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:41:23:0:0:17,24:538,769:49.83,0.00:27.96,0.00:21.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,11.8:0,0:0,0:90,102:61,39:28,29:NM_001040432.1(ZCWPW2) c.605T>A (p.Leu202Gln),-:0.46,-:0.4014,- 3 28520423 . G . . NT END=28533617;NT GT ./. 3 28520576 rs60690028 T C 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5266,C/0.4734;Gene=ZCWPW2/NM_001040432.2/1;CC=c.610+154T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:C,T:8:0:0:0:4,4:119,127:11.40,0.00:0.00,0.00:11.40,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:29.8,2.8:0,0:0,0:112,121:39,30:18,3:NM_001040432.1(ZCWPW2) c.610+154T>C,-:0.48,-:NOT_FOUND,- 3 28533458 rs13099814 A G 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5391,G/0.4609;Gene=ZCWPW2/NM_001040432.2/1;CC=c.611-160A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:16:16:0:0:5,11:169,308:0.00,31.70:0.00,31.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,32.2:0,0:0,0:37,53:113,97:23,29:-,NM_001040432.1(ZCWPW2) c.611-160A>G:-,0.47:-,NOT_FOUND 3 28533665 . G . . NT END=28555554;NT GT ./. 3 28555614 . G . . NT END=28557044;NT GT ./. 3 28557113 . G . . NT END=28562482;NT GT ./. 3 28557206 rs10539083 CTG C 7 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=56;PC=0.006;Gene=ZCWPW2/NM_001040432.2/1;CC=c.784+124_784+125delGT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:CTG,G,I,C:19:5:1:3:14,1,1,3:467,21,34,86:0.00,0.99,2.27,6.58:0.00,-0.07,-0.07,-0.22:0.00,1.06,2.34,6.81:0.00,0.00,0.00,0.51:0.00,0.00,0.00,0.57:0.00,0.00,0.00,0.90:60,60,60,60:12.5,51.0,0.0,15.3:0,0,0,0:0,0,0,0:110,36,65,74:41,94,85,75:22,0,0,15:-,NM_001040432.1(ZCWPW2) c.784+95_784+96delTG:-,NOT_FOUND:-,NOT_FOUND 3 28562608 . G . . NT END=28566017;NT GT ./. 3 28562826 rs13064740 G T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5787,T/0.4213;PC=0.001;Gene=ZCWPW2/NM_001040432.2/1;CC=c.909+219G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:G,T:6:0:0:0:3,3:103,100:0.00,9.62:0.00,0.00:0.00,9.62:0.00,0.73:0.00,0.00:0.00,0.73:60,60:8.7,38.7:0,0:0,0:88,72:62,79:17,9:-,NM_001040432.1(ZCWPW2) c.909+219G>T:-,0.44:-,NOT_FOUND 3 28566187 . T . . NT END=29323172;NT GT ./. 3 28906843 rs71091021 G GTCTCTTTCTT 25 nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=169;NP=4;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:G,GTCTCTTTCTT:10:1:9:0:2,8:46,265:0.00,24.92:0.00,-0.28:0.00,25.20:0.00,1.00:0.00,0.82:0.00,1.00:60,70:49.5,43.9:1,1:0,0:101,101:47,49:40,21:-,chr3 g.28906843_28906844insTCTCTTTCTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 28906898 rs185518907 T C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:6:0:0:0:4,2:125,66:12.75,0.00:0.00,0.00:12.75,0.00:0.93,0.00:0.00,0.00:0.93,0.00:70,60:96.0,84.5:0,0:0,0:99,105:50,45:20,8:chr3 g.28906897T>C (intergenic),-:0.11,-:NOT_FOUND,- 3 28906913 rs13091183 T C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4235,C/0.5765;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:181:20.93:0.00:20.93:1.00:0.00:1.00:70:92.2:0:0:119:31:13:chr3 g.28906912T>C (intergenic),chr3 g.28906912T>C (intergenic):0.5,0.5:NOT_FOUND,NOT_FOUND 3 29050912 rs147567803 ATG A 15 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:ATG,A:6:5:0:5:1,5:30,139:0.00,15.10:0.00,11.40:0.00,3.70:0.00,0.99:0.00,1.00:0.00,1.00:60,60:12.0,13.2:0,0:0,0:115,51:35,90:0,20:-,chr3 g.29050913_29050914delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 29224687 rs1545105 G A 57 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8331,A/0.1669 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:2:0:0:18,9:554,303:56.51,0.00:1.45,0.00:55.06,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:39.2,5.2:0,0:0,0:110,81:39,69:28,26:chr3 g.29224686G>A (intergenic),-:0.17,-:NOT_FOUND,- 3 29241599 rs6549916 G A 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.3696,A/0.6304 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:32:0:0:13,24:411,792:36.85,0.00:18.21,0.00:18.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.4,2.5:0,0:0,0:73,57:67,93:21,38:chr3 g.29241598G>A (intergenic),-:0.6,-:NOT_FOUND,- 3 29242739 rs73062504 G A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9473,A/0.05272 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:8:0:0:0:3,5:89,171:8.03,0.00:0.00,0.00:8.03,0.00:0.67,0.00:0.00,0.00:0.67,0.00:60,60:29.7,17.4:0,0:0,0:98,77:53,73:48,31:chr3 g.29242738G>A (intergenic),-:0.05,-:NOT_FOUND,- 3 29242810 rs2048895 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3309,C/0.6691 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:C,T:4:0:0:0:3,1:87,30:9.15,0.00:0.00,0.00:9.15,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:29.0,33.0:0,0:0,0:138,88:12,62:10,0:chr3 g.29242809T>C (intergenic),-:0.65,-:NOT_FOUND,- 3 29260326 . G A 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;NP=1;NP=3;NP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:5:A,G,D:4:0:0:1:2,1,1:63,35,31:6.35,0.00,2.85:0.00,0.00,0.00:6.35,0.00,2.85:0.51,0.00,0.00:0.00,0.00,0.00:0.51,0.00,0.00:60,39,60:158.5,0.0,0.0:0,0,0:0,0,0:40,106,96:111,40,55:35,0,0:chr3 g.29260325G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 29322966 rs5847561 C CT 10 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.3311,CT/0.6689;DB;DBA=NA;PAF=C/0.3311,CT/0.6689,CTT/.;NP=15;NP=88;Gene=RBMS3/NM_001177712.1/0;CC=c.-196_-195insT;VC=5UTR;Gene=RBMS3/NM_014483.3/0;CC=c.-196_-195insT;VC=5UTR;Gene=RBMS3/NM_001003792.2/0;CC=c.-196_-195insT;VC=5UTR;Gene=RBMS3/NM_001003793.2/1;CC=c.-196_-195insT;VC=5UTR;Gene=RBMS3/NM_001177711.1/0;CC=c.-196_-195insT;VC=5UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,CT:4:6:5:0:1,3:33,160:0.00,9.73:0.00,9.73:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:10.0,83.7:0,2:0,0:59,37:92,114:0,27:-,NM_001003793.2(RBMS3) c.-196dupT:-,NOT_FOUND:-,NOT_FOUND 3 29323248 . G . . NT END=29476233;NT GT ./. 3 29476407 . G . . NT END=29529931;NT GT ./. 3 29476428 rs3773018 G A 136 nt VT=SNV;PN=C;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.5294,A/0.4706;PC=0.001;Gene=RBMS3/NM_001177712.1/0;CC=c.248+22G>A;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.248+22G>A;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.245+22G>A;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.248+22G>A;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.248+22G>A;VC=Intron;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:25:0:0:43,38:1402,1228:136.41,0.00:27.40,0.00:109.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,5.9:0,0:0,0:105,104:45,44:24,23:NM_001003793.2(RBMS3) c.248+22G>A,-:0.45,-:0.419576,- 3 29476582 rs3773019 G T 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3712,T/0.6288;Gene=RBMS3/NM_001177712.1/0;CC=c.248+176G>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.248+176G>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.245+176G>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.248+176G>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.248+176G>T;VC=Intron;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,T:9:0:0:0:3,6:67,204:0.00,20.80:0.00,0.00:0.00,20.80:0.00,0.99:0.00,0.00:0.00,0.99:60,60:53.0,35.7:0,0:0,0:100,115:51,36:5,7:-,NM_001003793.2(RBMS3) c.248+176G>T:-,0.62:-,NOT_FOUND 3 29492424 rs9871879 C A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4908,A/0.5092;Gene=RBMS3/NM_001177712.1/0;CC=c.248+16018C>A;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.248+16018C>A;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.245+16018C>A;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.248+16018C>A;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.248+16018C>A;VC=Intron;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:2:6:191:21.96:7.25:14.71:1.00:1.00:1.00:60:39.8:0:0:58:76:28:NM_001003793.2(RBMS3) c.248+16018C>A,NM_001003793.2(RBMS3) c.248+16018C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 29529991 . G . . NT END=29628604;NT GT ./. 3 29628697 . G . . NT END=29738453;NT GT ./. 3 29628741 rs7647211 G T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.09365,T/0.9063;NP=1224;PC=0.719;Gene=RBMS3/NM_001177712.1/0;CC=c.399+45G>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.399+45G>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.396+45G>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.399+45G>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.399+45G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:3:6:201:22.96:0.00:22.96:1.00:0.00:1.00:60:105.3:0:0:68:50:30:NM_001003793.2(RBMS3) c.399+45G>T,NM_001003793.2(RBMS3) c.399+45G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 29628743 rs200372230 G T 22 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=835;PC=0.726;Gene=RBMS3/NM_001177712.1/0;CC=c.399+47G>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.399+47G>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.396+47G>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.399+47G>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.399+47G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:G,T:7:0:0:2:1,6:30,202:0.00,21.82:0.00,0.00:0.00,21.82:0.00,1.00:0.00,0.00:0.00,1.00:60,60:118.0,102.5:0,1:0,0:147,70:3,48:0,30:-,NM_001003793.2(RBMS3) c.399+47G>T:-,NOT_FOUND:-,NOT_FOUND 3 29677529 rs202165193 ATG A 12 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=ATG/0.09904,A/0.901;DB;DBA=NA;PAF=ATG/0.09904,A/0.901;NP=356;Gene=RBMS3/NM_001177712.1/0;CC=c.399+48867_399+48868delGT;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.399+48867_399+48868delGT;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.396+48867_396+48868delGT;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.399+48867_399+48868delGT;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.399+48867_399+48868delGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:4:4:106:12.49:6.35:6.15:1.00:1.00:1.00:60:16.0:0:0:20:100:16:NM_001003793.2(RBMS3) c.399+48834_399+48835delTG,NM_001003793.2(RBMS3) c.399+48834_399+48835delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 29738168 rs7615981 C T 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5763,T/0.4237;Gene=RBMS3/NM_001177712.1/0;CC=c.400-43043C>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.400-43043C>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.397-43043C>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.400-43043C>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.400-43043C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:30.5:0:0:31:119:16:NM_001003793.2(RBMS3) c.400-43043C>T,NM_001003793.2(RBMS3) c.400-43043C>T:0.42,0.42:NOT_FOUND,NOT_FOUND 3 29738588 . G . . NT END=29739683;NT GT ./. 3 29740110 . G . . NT END=29772361;NT GT ./. 3 29762208 rs11709856 A T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4647,T/0.5353;NP=307;Gene=RBMS3/NM_001177712.1/0;CC=c.400-19003A>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.400-19003A>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.397-19003A>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.400-19003A>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.400-19003A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,T:4:1:0:0:1,3:31,103:0.00,10.75:0.00,1.93:0.00,8.83:0.00,0.85:0.00,0.83:0.00,0.85:60,60:11.0,60.0:0,0:0,0:135,109:11,41:0,25:-,NM_001003793.2(RBMS3) c.400-19003A>T:-,NOT_FOUND:-,NOT_FOUND 3 29772502 . G . . NT END=29781210;NT GT ./. 3 29772710 rs57287518 T C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6645,C/0.3355;PC=0.006;Gene=RBMS3/NM_001177712.1/0;CC=c.400-8501T>C;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.400-8501T>C;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.397-8501T>C;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.400-8501T>C;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.400-8501T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:118:C,T:11:0:0:0:4,7:121,235:10.88,0.00:0.00,0.00:10.88,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:30.2,0.0:0,0:0,0:91,78:59,73:22,32:NM_001003793.2(RBMS3) c.400-8501T>C,-:0.33,-:NOT_FOUND,- 3 29781369 . G . . NT END=29804400;NT GT ./. 3 29781465 rs397989061 C A 7 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=2;Gene=RBMS3/NM_001177712.1/0;CC=c.557+97C>A;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.557+97C>A;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.554+97C>A;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.557+97C>A;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.557+97C>A;VC=Intron;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:33:A,C,I,D:17:1:3:1:4,10,2,1:86,234,92,33:6.83,0.00,4.54,2.28:-0.05,0.00,-0.03,-0.01:6.89,0.00,4.57,2.29:0.73,0.00,0.00,0.00:0.48,0.00,0.00,0.00:0.73,0.00,0.00,0.00:60,60,60,60:77.0,24.0,62.5,0.0:2,0,1,0:0,0,0,0:58,137,119,82:91,9,32,66:27,12,9,0:NM_001003793.2(RBMS3) c.557+97C>A,-:NOT_FOUND,-:NOT_FOUND,- 3 29804300 rs7340719 C A 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.522,A/0.478;PC=0.001;Gene=RBMS3/NM_001177712.1/0;CC=c.558-101C>A;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.558-101C>A;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.555-101C>A;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.558-101C>A;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.558-101C>A;VC=Intron;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1;DM=RBMS3/RRM_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,C:13:13:0:0:8,5:232,172:23.22,0.00:23.22,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:30.4,20.8:0,0:0,0:32,20:117,131:27,8:NM_001003793.2(RBMS3) c.558-101C>A,-:0.45,-:NOT_FOUND,- 3 29804481 . G . . NT END=29910348;NT GT ./. 3 29804487 rs1371839 A T 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.5503,T/0.4497;Gene=RBMS3/NM_001177712.1/0;CC=c.637+7A>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.637+7A>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.634+7A>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.637+7A>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.637+7A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:27:14:0:0:17,10:531,320:0.00,29.05:0.00,5.28:0.00,23.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,60.3:0,0:0,0:120,70:31,78:19,26:-,NM_001003793.2(RBMS3) c.637+7A>T:-,0.41:-,0.464472 3 29804509 rs1371840 T C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5142,C/0.4858;Gene=RBMS3/NM_001177712.1/0;CC=c.637+29T>C;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.637+29T>C;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.634+29T>C;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.637+29T>C;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.637+29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:7:0:0:8,13:254,430:23.16,0.00:2.83,0.00:20.33,0.00:0.99,0.00:0.95,0.00:1.00,0.00:60,60:66.0,6.2:0,0:0,0:71,123:79,28:19,19:NM_001003793.2(RBMS3) c.637+29T>C,-:0.46,-:0.500846,- 3 29846411 rs59489259 CGT C 7 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;PC=0.010;Gene=RBMS3/NM_001177712.1/0;CC=c.637+41967_637+41968delTG;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.637+41967_637+41968delTG;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.634+41967_634+41968delTG;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.637+41967_637+41968delTG;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.637+41967_637+41968delTG;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CGT,C:5:4:0:6:2,3:64,171:0.00,7.12:0.00,1.52:0.00,5.60:0.00,0.67:0.00,0.85:0.00,0.93:60,60:0.0,16.0:0,3:0,0:129,46:21,105:9,26:-,NM_001003793.2(RBMS3) c.637+41932_637+41933delGT:-,NOT_FOUND:-,NOT_FOUND 3 29857792 rs59860975 GACACACACAGACAC G 13 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=67;PC=0.004;Gene=RBMS3/NM_001177712.1/0;CC=c.638-52547_638-52534delGACACACACACACA;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.638-52547_638-52534delGACACACACACACA;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.635-52547_635-52534delGACACACACACACA;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.638-52547_638-52534delGACACACACACACA;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.638-52547_638-52534delGACACACACACACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:GACACACACAGACAC,G:6:3:0:4:2,4:69,123:0.00,12.55:0.00,6.22:0.00,6.32:0.00,0.93:0.00,0.97:0.00,0.97:60,70:0.0,28.2:0,0:0,0:55,81:96,66:12,28:-,NM_001003793.2(RBMS3) c.638-52556_638-52543delACACACACAGACAC:-,NOT_FOUND:-,NOT_FOUND 3 29910456 . G . . NT END=29922269;NT GT ./. 3 29922309 . G . . NT END=29925652;NT GT ./. 3 29922333 rs13324314 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.777,T/0.223;PC=0.001;Gene=RBMS3/NM_001177712.1/0;CC=c.783+25C>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.745-3320C>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.742-3320C>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.745-3320C>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.745-3320C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:30:12:0:0:23,7:689,230:0.00,19.28:0.00,2.66:0.00,16.62:0.00,0.95:0.00,0.92:0.00,1.00:60,60:12.6,35.4:0,0:0,0:97,113:50,38:30,30:-,NM_001003793.2(RBMS3) c.745-3320C>T:-,0.21:-,NOT_FOUND 3 29922461 rs73055707 C T 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.987,T/0.01298;Gene=RBMS3/NM_001177712.1/0;CC=c.783+153C>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.745-3192C>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.742-3192C>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.745-3192C>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.745-3192C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:6:0:0:0:3,3:98,76:0.00,7.20:0.00,0.00:0.00,7.20:0.00,0.73:0.00,0.00:0.00,0.73:60,60:44.3,73.0:0,0:0,0:121,112:28,2:14,37:-,NM_001003793.2(RBMS3) c.745-3192C>T:-,0.01:-,NOT_FOUND 3 29925700 . G . . NT END=29938869;NT GT ./. 3 29938967 . G . . NT END=29941195;NT GT ./. 3 29941247 . G . . NT END=29977576;NT GT ./. 3 29977688 . G . . NT END=29985697;NT GT ./. 3 29977739 rs1449287 T C 115 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.1611,C/0.8389;Gene=RBMS3/NM_001177712.1/0;CC=c.1089+52T>C;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.1050+52T>C;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.996+52T>C;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.1050+52T>C;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.1050+52T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A,C:31:4:0:0:1,30:11,1015:0.32,115.37:0.00,7.73:0.32,107.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:106.0,36.1:0,0:0,0:89,93:62,58:0,27:NM_001003793.2(RBMS3) c.1050+52T>C,NM_001003793.2(RBMS3) c.1050+52T>C:0.86,0.86:0.836496,0.836496 3 29985746 . G . . NT END=30029633;NT GT ./. 3 30029715 . G . . NT END=30032572;NT GT ./. 3 30029724 rs1868491 C T 20 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.7596,T/0.2404;Gene=RBMS3/NM_001177712.1/0;CC=c.1170+10C>T;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.1131+10C>T;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.1125+10C>T;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.1179+10C>T;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.1131+10C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:14:0:0:14,7:462,229:0.00,20.43:0.00,6.74:0.00,13.69:0.00,0.97:0.00,0.99:0.00,1.00:60,60:0.7,32.7:0,0:0,0:99,92:46,44:27,4:-,NM_001003793.2(RBMS3) c.1179+10C>T:-,0.27:-,0.208135 3 30032355 rs3773124 A G 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.723,G/0.277;Gene=RBMS3/NM_001177712.1/0;CC=c.1171-218A>G;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.1132-218A>G;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.1126-218A>G;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.1180-218A>G;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.1132-218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:7:7:0:0:4,3:136,96:0.00,8.96:0.00,8.96:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:13.2,44.0:0,0:0,0:38,49:105,102:27,10:-,NM_001003793.2(RBMS3) c.1180-218A>G:-,0.3:-,NOT_FOUND 3 30032470 rs3773125 T C 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.7474,C/0.2526;Gene=RBMS3/NM_001177712.1/0;CC=c.1171-103T>C;VC=Intron;Gene=RBMS3/NM_014483.3/0;CC=c.1132-103T>C;VC=Intron;Gene=RBMS3/NM_001003792.2/0;CC=c.1126-103T>C;VC=Intron;Gene=RBMS3/NM_001003793.2/1;CC=c.1180-103T>C;VC=Intron;Gene=RBMS3/NM_001177711.1/0;CC=c.1132-103T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:21:0:0:9,12:298,309:27.89,0.00:27.89,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.8,18.7:0,0:0,0:71,67:80,84:32,44:NM_001003793.2(RBMS3) c.1180-103T>C,-:0.28,-:NOT_FOUND,- 3 30032810 . g . . NT END=30045346;NT GT ./. 3 30045354 . A . . NT END=30648375;NT GT ./. 3 30045552 rs55920068 CAATT C 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CAATT/0.8556,C/0.1444;NP=240;PC=1.000;Gene=RBMS3/NM_001003792.2/0;CC=c.*200_*203delAATT;VC=3UTR;Gene=RBMS3/NM_001003793.2/1;CC=c.*200_*203delAATT;VC=3UTR;Gene=RBMS3/NM_001177711.1/0;CC=c.*200_*203delAATT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CAATT,C:5:0:0:3:2,3:64,98:0.00,9.77:0.00,0.00:0.00,9.77:0.00,0.78:0.00,0.00:0.00,0.78:60,70:5.5,0.0:0,0:0,0:119,101:31,50:18,2:-,NM_001003793.2(RBMS3) c.*200_*203delAATT:-,0.17:-,NOT_FOUND 3 30388311 rs6777854 C T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9237,T/0.07628;PC=0.143 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:2:0:0:1,3:32,80:0.00,8.42:0.00,3.80:0.00,4.62:0.00,0.85:0.00,0.95:0.00,0.85:60,60:0.0,75.3:0,0:0,0:80,116:70,30:0,4:-,chr3 g.30388310C>T (intergenic):-,0.07:-,NOT_FOUND 3 30576112 rs55871027 T C,TACACACACAC 17 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=10;NP=29;NP=65;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:40:C,T,TACACACACAC:8:8:6:0:2,1,5:61,24,194:5.64,0.00,16.76:1.50,0.00,9.76:4.14,0.00,6.99:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:41.0,0.0,15.8:0,0,1:0,0,0:15,113,55:121,24,73:1,0,35:chr3 g.30576111T>C (intergenic),chr3 g.30576112_30576113insACACACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 30576177 rs56194523 CT C 10 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CT/0.3063,C/0.6937;NP=372;PC=0.001;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:CT,C:8:6:0:5:4,4:139,110:0.00,10.46:0.00,6.60:0.00,3.86:0.00,0.87:0.00,0.73:0.00,0.99:70,60:15.8,32.0:0,0:0,0:94,87:11,55:1,7:-,chr3 g.30576178delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 30630767 rs60131761 AACAC A 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=118;PC=0.189;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AACAC,A:4:5:0:3:2,2:67,99:0.00,6.31:0.00,3.05:0.00,3.27:0.00,0.46:0.00,0.46:0.00,0.80:60,60:0.0,32.0:0,1:0,0:103,23:26,104:25,12:-,chr3 g.30630768_30630771delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 30648470 . G . . NT END=30664690;NT GT ./. 3 30664766 . G . . NT END=30686238;NT GT ./. 3 30677698 rs9820508 A G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2929,G/0.7071;PC=0.003;Gene=TGFBR2/NM_001024847.2/1;CC=c.170-8541A>G;VC=Intron;Gene=TGFBR2/NM_003242.5/0;CC=c.95-8541A>G;VC=Intron;DM=TGFBR2/ecTbetaR2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:143:16.21:2.04:14.17:1.00:1.00:1.00:60:50.5:0:0:97:45:7:NM_001024847.2(TGFBR2) c.170-8541A>G,NM_001024847.2(TGFBR2) c.170-8541A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 3 30686408 . G . . NT END=30691761;NT GT ./. 3 30686414 rs1155705 A G 165 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=in-clinvar;PAF=A/0.5871,G/0.4129;Gene=TGFBR2/NM_001024847.2/1;CC=c.338+7A>G;VC=Intron;Gene=TGFBR2/NM_003242.5/0;CC=c.263+7A>G;VC=Intron;DM=TGFBR2/ecTbetaR2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:G:44:13:0:0:44:1438:164.74:32.00:132.73:1.00:1.00:1.00:60:39.7:0:0:94:41:30:NM_001024847.2(TGFBR2) c.338+7A>G,NM_001024847.2(TGFBR2) c.338+7A>G:0.43,0.43:0.321544,0.321544 3 30686627 rs1155706 T C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5871,C/0.4129;Gene=TGFBR2/NM_001024847.2/1;CC=c.338+220T>C;VC=Intron;Gene=TGFBR2/NM_003242.5/0;CC=c.263+220T>C;VC=Intron;DM=TGFBR2/ecTbetaR2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:197:22.56:0.00:22.56:1.00:0.00:1.00:60:103.8:0:0:112:38:22:NM_001024847.2(TGFBR2) c.338+220T>C,NM_001024847.2(TGFBR2) c.338+220T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 3 30686647 rs1155707 T C 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5855,C/0.4145;Gene=TGFBR2/NM_001024847.2/1;CC=c.338+240T>C;VC=Intron;Gene=TGFBR2/NM_003242.5/0;CC=c.263+240T>C;VC=Intron;DM=TGFBR2/ecTbetaR2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:137:16.08:0.00:16.08:1.00:0.00:1.00:60:118.6:0:0:131:19:10:NM_001024847.2(TGFBR2) c.338+240T>C,NM_001024847.2(TGFBR2) c.338+240T>C:0.43,0.43:NOT_FOUND,NOT_FOUND 3 30689911 rs68067761 TACACACACACACAC T 6 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=56;Gene=TGFBR2/NM_001024847.2/1;CC=c.339-1821_339-1808delCACACACACACACA;VC=Intron;Gene=TGFBR2/NM_003242.5/0;CC=c.264-1821_264-1808delCACACACACACACA;VC=Intron;DM=TGFBR2/ecTbetaR2;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TACACACACACACAC,T:4:5:0:3:2,2:69,100:0.00,6.41:0.00,4.79:0.00,1.63:0.00,0.46:0.00,0.46:0.00,0.70:60,60:0.0,0.0:0,1:0,0:130,35:17,116:15,15:-,NM_001024847.2(TGFBR2) c.339-1850_339-1837delACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 30691953 . G . . NT END=30713129;NT GT ./. 3 30713126 rs11466512 T A 75 nt VT=SNV;PN=A;NN=C;SST=Single;DP=63;DB;DBA=in-clinvar;PAF=T/0.728,A/0.272;PC=0.091;Gene=TGFBR2/NM_001024847.2/1;CC=c.530-4T>A;VC=Intron;Gene=TGFBR2/NM_003242.5/0;CC=c.455-4T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:63:52:0:0:26,37:808,1154:74.66,0.00:58.56,0.00:16.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,10.0:0,0:0,0:41,56:107,85:17,22:NM_001024847.2(TGFBR2) c.530-4T>A,-:0.31,-:0.255497,- 3 30713930 . G . . NT END=30715596;NT GT ./. 3 30715739 . G . . NT END=30729875;NT GT ./. 3 30730004 . G . . NT END=30732911;NT GT ./. 3 30732821 rs2276767 C A 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8421,A/0.1579;PC=0.001;Gene=TGFBR2/NM_001024847.2/1;CC=c.1600-91C>A;VC=Intron;Gene=TGFBR2/NM_003242.5/0;CC=c.1525-91C>A;VC=Intron;DM=TGFBR2/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:32:0:0:15,18:436,599:40.87,0.00:36.26,0.00:4.61,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:53.2,5.0:0,0:0,0:13,64:137,87:11,22:NM_001024847.2(TGFBR2) c.1600-91C>A,-:0.19,-:NOT_FOUND,- 3 30733092 . C . . NT END=30769733;NT GT ./. 3 30769514 rs9879502 A T 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7877,T/0.2123;Gene=GADL1/NM_207359.2/1;CC=c.*220T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,T,D:9:9:0:1:3,5,1:103,171,30:0.00,17.15,2.37:0.00,17.15,2.37:0.00,0.00,0.00:0.00,0.96,0.00:0.00,0.96,0.00:0.00,0.00,0.00:60,60,60:14.0,36.2,0.0:0,0,0:0,0,0:48,17,107:103,134,42:12,7,0:-,NM_207359.2(GADL1) c.*220T>A:-,0.23:-,NOT_FOUND 3 30769908 . C . . NT END=30819670;NT GT ./. 3 30769948 rs7617829 C T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=C/0.7881,T/0.2119;PC=0.001;Gene=GADL1/NM_207359.2/1;CC=c.1393-41G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:51:21:0:0:28,23:933,728:0.00,68.48:0.00,22.69:0.00,45.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,35.0:0,0:0,0:105,112:45,37:34,21:-,NM_207359.2(GADL1) c.1393-41G>A:-,0.23:-,0.281639 3 30819761 . C . . NT END=30827846;NT GT ./. 3 30827899 . C . . NT END=30842380;NT GT ./. 3 30842298 rs71093941 GACACACAC G 42 sb;idl,nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=83;Gene=GADL1/NM_207359.2/1;CC=c.1250+75_1250+82delGTGTGTGT;VC=Intron;DM=GADL1/Pyridoxal_deC;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GACACACAC,G:21:26:0:19:7,14:210,549:0.00,41.98:0.00,41.94:0.00,0.03:0.00,1.00:0.00,1.00:0.00,0.91:60,60:18.6,24.0:0,5:0,0:108,54:38,94:26,21:-,NM_207359.2(GADL1) c.1250+75_1250+82delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 30842346 . AAG A 10 idl,rn VT=DEL;SST=Single;DP=37;NP=10;PC=0.002;Gene=GADL1/NM_207359.2/1;CC=c.1250+33_1250+34delCT;VC=Intron;DM=GADL1/Pyridoxal_deC;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AAG,G,A:35:32:0:6:29,2,4:783,49,195:0.00,2.70,9.62:0.00,0.81,8.83:0.00,1.89,0.79:0.00,0.00,0.60:0.00,0.00,0.92:0.00,0.00,0.71:60,60,60:25.4,59.5,17.2:1,0,2:0,0,0:66,43,39:74,97,111:34,16,2:-,NM_207359.2(GADL1) c.1250+33_1250+34delCT:-,NOT_FOUND:-,NOT_FOUND 3 30842581 . C . . NT END=30875344;NT GT ./. 3 30875427 . C . . NT END=30875708;NT GT ./. 3 30875774 . C . . NT END=30880488;NT GT ./. 3 30880606 . C . . NT END=30885701;NT GT ./. 3 30885757 . C . . NT END=30885878;NT GT ./. 3 30885959 . C . . NT END=30891487;NT GT ./. 3 30891604 . C . . NT END=30892326;NT GT ./. 3 30892434 . C . . NT END=30896190;NT GT ./. 3 30896282 . C . . NT END=30898506;NT GT ./. 3 30896319 rs200976363 T TA 7 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=7;PC=0.003;Gene=GADL1/NM_207359.2/1;CC=c.338-39_338-38insT;VC=Intron;DM=GADL1/Pyridoxal_deC;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TA:14:5:3:0:11,3:333,83:0.00,6.58:0.00,2.30:0.00,4.28:0.00,0.56:0.00,0.69:0.00,0.92:60,60:1.7,10.7:0,0:0,0:109,94:39,56:27,8:-,NM_207359.2(GADL1) c.338-39_338-38insT:-,NOT_FOUND:-,NOT_FOUND 3 30898634 . C . . NT END=30903084;NT GT ./. 3 30903008 rs6774917 T C 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.7392,C/0.2608;Gene=GADL1/NM_207359.2/1;CC=c.210+77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:15,10:460,331:45.82,0.00:34.65,0.00:11.16,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.9,13.1:0,0:0,0:35,73:116,77:29,21:NM_207359.2(GADL1) c.210+77A>G,-:0.27,-:NOT_FOUND,- 3 30903258 . C . . NT END=30936069;NT GT ./. 3 30903304 rs1393745 C T 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.7394,T/0.2606;Gene=GADL1/NM_207359.2/1;CC=c.38-47G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:5:0:0:15,10:453,312:0.00,28.68:0.00,2.83:0.00,25.85:0.00,1.00:0.00,0.46:0.00,1.00:60,60:3.7,46.1:0,0:0,0:114,111:37,40:15,26:-,NM_207359.2(GADL1) c.38-47G>A:-,0.27:-,0.171923 3 30903428 rs397764148 T TAG 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7394,TAG/0.2606;DB;DBA=NA;PAF=T/0.7394,TAG/0.2606;NP=180;Gene=GADL1/NM_207359.2/1;CC=c.38-173_38-172dupCT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:T,TAG:4:0:2:0:2,2:65,66:0.00,6.35:0.00,0.00:0.00,6.35:0.00,0.51:0.00,0.00:0.00,0.51:60,60:6.0,6.0:0,0:0,0:121,101:29,47:15,35:-,NM_207359.2(GADL1) c.38-172_38-171insCT:-,0.27:-,NOT_FOUND 3 30904547 rs4491948 T A 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6649,A/0.3351;NP=106;Gene=GADL1/NM_207359.2/1;CC=c.38-1290A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,T:5:4:0:0:2,3:69,105:6.39,0.00:5.05,0.00:1.35,0.00:0.46,0.00:0.87,0.00:0.87,0.00:60,60:104.0,0.0:0,0:0,0:38,43:88,22:21,7:NM_207359.2(GADL1) c.38-1290A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 30912592 rs17026715 C T 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7756,T/0.2244;Gene=GADL1/NM_207359.2/1;CC=c.38-9335G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:4:0:0:2,2:69,66:0.00,6.35:0.00,4.76:0.00,1.59:0.00,0.51:0.00,0.51:0.00,0.79:60,60:0.0,33.0:0,0:0,0:80,88:39,55:11,16:-,NM_207359.2(GADL1) c.38-9335G>A:-,0.23:-,NOT_FOUND 3 30936107 . C . . NT END=31574490;NT GT ./. 3 31195728 . AAC A 6 rn VT=DEL;SST=Single;DP=4;NP=22;PC=0.002;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AAC,A:3:3:0:3:1,2:33,97:0.00,6.45:0.00,1.59:0.00,4.86:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,11.5:0,1:0,0:39,55:111,96:0,8:-,chr3 g.31195729_31195730delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 31494587 rs17027714 G A 67 nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.6739,A/0.3261;PC=0.508 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:37:0:0:22,22:702,688:67.48,0.00:51.37,0.00:16.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.5,16.9:0,0:0,0:38,37:100,98:32,26:chr3 g.31494586G>A (intergenic),-:0.36,-:NOT_FOUND,- 3 31494993 rs9824199 C T 166 nt VT=SNV;PN=A;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.5399,T/0.4601;PC=0.854 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:46:0:0:25,49:837,1628:0.00,165.59:0.00,65.64:0.00,99.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,37.8:0,0:0,0:99,80:51,65:19,41:-,chr3 g.31494992C>T (intergenic):-,0.46:-,NOT_FOUND 3 31495219 rs11708946 C A 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7642,A/0.2358;PC=0.983 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:A,C:17:6:0:0:10,7:320,185:31.78,0.00:14.12,0.00:17.66,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:44.8,38.6:0,0:0,0:112,106:38,45:31,16:chr3 g.31495218C>A (intergenic),-:0.28,-:NOT_FOUND,- 3 31496295 rs724607 T G 126 nt VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.8888,G/0.1112;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:76:47:0:0:40,36:1300,1175:126.25,0.00:49.17,0.00:77.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,4.8:0,0:0,0:80,101:65,48:20,25:chr3 g.31496294T>G (intergenic),-:0.1,-:NOT_FOUND,- 3 31496547 rs724606 T C 6 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.8914,C/0.1086;PC=0.067 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:70:C,T:7:0:0:0:3,4:70,135:6.32,0.00:0.00,0.00:6.32,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:30.0,14.0:0,0:0,0:44,102:106,48:28,18:chr3 g.31496546T>C (intergenic),-:0.09,-:NOT_FOUND,- 3 31574393 rs529181821 T TTCCTCC 70 idl,nt VT=INS;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.9119,TTCCTCC/0.08806;PC=0.001;Gene=STT3B/NM_178862.2/1;CC=c.-77_-76insTCCTCC;VC=5UTR;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TTCCTCC,D:82:72:33:1:1,50,30,1:31,1668,880,32:1.40,0.00,69.64,1.50:1.50,0.00,44.19,-0.16:-0.10,0.00,25.45,1.66:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:31.0,20.9,10.4,0.0:0,0,3,0:0,0,0,0:1,48,34,70:150,89,98,79:0,31,25,0:-,NM_178862.1(STT3B) c.1-u98_1-u97insTCCTCC:-,NOT_FOUND:-,NOT_FOUND 3 31574806 . T . . NT END=31617887;NT GT ./. 3 31617998 . T . . NT END=31621300;NT GT ./. 3 31621228 . T TAAA 60 nt VT=INS;SST=Single;DP=18;NP=394;PC=0.212;Gene=STT3B/NM_178862.2/1;CC=c.424-73_424-72insAAA;VC=Intron;DM=STT3B/STT3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T,TAAA:18:16:17:0:1,17:28,535:0.00,59.93:0.00,47.30:0.00,12.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.0,6.1:0,0:0,0:146,40:4,111:0,17:NM_178862.1(STT3B) c.424-73_424-72insAAA,NM_178862.1(STT3B) c.424-73_424-72insAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 31621590 . T . . NT END=31638289;NT GT ./. 3 31638357 . T . . NT END=31641851;NT GT ./. 3 31641953 . T . . NT END=31656596;NT GT ./. 3 31642037 rs11713598 A T 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.496,T/0.504;Gene=STT3B/NM_178862.2/1;CC=c.877+86A>T;VC=Intron;DM=STT3B/STT3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,T:5:0:0:0:2,3:67,97:0.00,9.67:0.00,0.00:0.00,9.67:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,32.3:0,0:0,0:109,130:41,20:12,14:-,NM_178862.1(STT3B) c.877+86A>T:-,0.51:-,NOT_FOUND 3 31656697 . T . . NT END=31658420;NT GT ./. 3 31658569 . T . . NT END=31659431;NT GT ./. 3 31659482 . T . . NT END=31661167;NT GT ./. 3 31661324 . T . . NT END=31661456;NT GT ./. 3 31661507 . c . . NT END=31663588;NT GT ./. 3 31663476 rs80348727 C T 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.9856,T/0.01438;PC=0.034;Gene=STT3B/NM_178862.2/1;CC=c.1328-113C>T;VC=Intron;DM=STT3B/STT3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:18:0:0:6,12:205,357:0.00,36.42:0.00,36.42:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.8,33.2:0,0:0,0:77,49:73,100:41,21:-,NM_178862.1(STT3B) c.1328-113C>T:-,0.02:-,NOT_FOUND 3 31663515 rs112888755 A AGTGTG 77 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.001797,AGTGTG/0.9982;DB;DBA=NA;PAF=NA;NP=3274;Gene=STT3B/NM_178862.2/1;CC=c.1328-72_1328-71insGTGGT;VC=Intron;DM=STT3B/STT3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:AGTGTG:22:21:22:0:22:665:76.98:69.43:7.55:1.00:1.00:1.00:60:15.9:0:0:70:81:38:NM_178862.1(STT3B) c.1328-74_1328-73insGTGTG,NM_178862.1(STT3B) c.1328-74_1328-73insGTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 31663801 . G . . NT END=31665165;NT GT ./. 3 31665354 . G . . NT END=31666405;NT GT ./. 3 31666357 rs79094690 C A 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9858,A/0.01418;Gene=STT3B/NM_178862.2/1;CC=c.1728-49C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:31:29:0:0:11,20:314,643:27.88,0.00:23.95,0.00:3.93,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:39.7,19.8:0,0:0,0:17,38:134,111:16,30:NM_178862.1(STT3B) c.1728-49C>A,-:0.02,-:0.027833,- 3 31666578 . G . . NT END=31667445;NT GT ./. 3 31667291 rs4955108 A G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.07508,G/0.9249;Gene=STT3B/NM_178862.2/1;CC=c.1900-155A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:379:43.15:43.15:0.00:1.00:1.00:0.00:60:35.6:0:0:44:107:28:NM_178862.1(STT3B) c.1900-155A>G,NM_178862.1(STT3B) c.1900-155A>G:0.94,0.94:NOT_FOUND,NOT_FOUND 3 31667620 . G . . NT END=31670789;NT GT ./. 3 31670904 . G . . NT END=31674426;NT GT ./. 3 31674640 . G . . NT END=31677475;NT GT ./. 3 31677395 rs11129457 T G 103 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.07468,G/0.9253;Gene=STT3B/NM_178862.2/1;CC=c.2401-81T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:25:0:0:27:899:102.73:94.68:8.05:1.00:1.00:1.00:60:43.8:0:0:24:126:16:NM_178862.1(STT3B) c.2401-81T>G,NM_178862.1(STT3B) c.2401-81T>G:0.94,0.94:NOT_FOUND,NOT_FOUND 3 31677557 . A . . NT END=31703563;NT GT ./. 3 31704044 rs141144279 A AGTCT 77 PASS VT=INS;SST=Single;DP=87;DB;DBA=NA;PAF=NA;NP=1;Gene=OSBPL10/NM_001174060.1/0;CC=c.2059-437_2059-436insAGAC;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.2251-437_2251-436insAGAC;VC=Intron;DM=OSBPL10/Oxysterol_BP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AGTCT:87:51:27:0:60,27:1898,872:0.00,76.70:0.00,38.61:0.00,38.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,72.3:0,0:0,0:80,64:70,85:48,30:-,NM_017784.4(OSBPL10) c.2251-437_2251-436insAGAC:-,NOT_FOUND:-,NOT_FOUND 3 31704046 rs201740973 C G 82 idl VT=SNV;PN=T;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;Gene=OSBPL10/NM_001174060.1/0;CC=c.2059-438G>C;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.2251-438G>C;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:80:47:0:0:52,28:1699,908:0.00,81.65:0.00,38.03:0.00,43.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.0,72.2:0,28:0,0:65,73:75,76:42,33:-,NM_017784.4(OSBPL10) c.2251-438G>C:-,NOT_FOUND:-,NOT_FOUND 3 31704047 rs142620908 A T 82 idl VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.9153,C/.,T/0.08466;Gene=OSBPL10/NM_001174060.1/0;CC=c.2059-439T>A;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.2251-439T>A;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:79:47:0:0:51,28:1744,909:0.00,81.96:0.00,35.62:0.00,46.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,72.2:0,28:0,0:62,68:82,81:39,32:-,NM_017784.4(OSBPL10) c.2251-439T>A:-,NOT_FOUND:-,NOT_FOUND 3 31704049 rs202046608 C CTG 81 PASS VT=INS;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.9153,CTG/0.08466;DB;DBA=NA;PAF=NA;Gene=OSBPL10/NM_001174060.1/0;CC=c.2059-442_2059-441insCA;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.2251-442_2251-441insCA;VC=Intron;DM=OSBPL10/Oxysterol_BP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CTG:81:48:28:0:52,1,28:1746,29,901:0.00,1.20,80.98:0.00,1.32,37.46:0.00,-0.13,43.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.0,180.0,72.2:0,0,0:0,0,0:68,0,76:72,151,73:42,0,33:-,NM_017784.4(OSBPL10) c.2251-442_2251-441insCA:-,0.07:-,NOT_FOUND 3 31705280 rs3792554 G A 166 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=G/0.4151,A/0.5849;Gene=OSBPL10/NM_001174060.1/0;CC=c.2058+291C>T;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.2250+291C>T;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:114:70:0:0:56,58:1738,1909:166.15,0.00:80.92,0.00:85.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,70:41.9,9.3:0,0:0,0:65,64:85,85:46,35:NM_017784.4(OSBPL10) c.2250+291C>T,-:0.57,-:NOT_FOUND,- 3 31705649 rs2305610 C T 198 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=141;DB;DBA=NA;PAF=C/0.9179,T/0.08207;PC=1.000;Gene=OSBPL10/NM_001174060.1/0;CC=c.1980G>A;ProtCh=p.L660=;VC=Silent;Gene=OSBPL10/NM_017784.4/1;CC=c.2172G>A;ProtCh=p.L724=;VC=Silent;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:141:95:0:0:77,1,63:2475,12,2095:0.00,-0.12,197.75:0.00,-0.11,92.37:0.00,-0.01,105.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.5,51.0,37.7:0,0,0:0,0,0:76,71,79:63,80,65:30,0,32:-,NM_017784.4(OSBPL10) c.2172G>A (p.(=)):-,0.09:-,0.032831 3 31705725 . C . . NT END=31710133;NT GT ./. 3 31710317 . C . . NT END=31712288;NT GT ./. 3 31712176 rs3749406 G T 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.4311,T/0.5689;PC=0.010;Gene=OSBPL10/NM_001174060.1/0;CC=c.1721+113C>A;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1913+113C>A;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:24:24:0:0:11,13:350,385:0.00,37.45:0.00,37.45:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:8.8,34.5:0,0:0,0:26,40:125,111:20,40:-,NM_017784.4(OSBPL10) c.1913+113C>A:-,0.56:-,NOT_FOUND 3 31712393 rs3749405 C T 142 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.4345,A/.,T/0.5655;Gene=OSBPL10/NM_001174060.1/0;CC=c.1617G>A;ProtCh=p.P539=;VC=Silent;Gene=OSBPL10/NM_017784.4/1;CC=c.1809G>A;ProtCh=p.P603=;VC=Silent;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:59:0:0:38,47:1189,1453:0.00,142.21:0.00,68.69:0.00,73.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,42.3:0,0:0,0:75,61:60,89:34,32:-,NM_017784.4(OSBPL10) c.1809G>A (p.(=)):-,0.56:-,0.494003 3 31712476 . C . . NT END=31725125;NT GT ./. 3 31712692 rs7619996 A G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4269,G/0.5731;Gene=OSBPL10/NM_001174060.1/0;CC=c.1535-217T>C;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1727-217T>C;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:0:0:0:1,4:33,133:0.00,14.12:0.00,0.00:0.00,14.12:0.00,0.96:0.00,0.00:0.00,0.96:60,60:15.0,33.2:0,0:0,0:104,115:43,36:0,27:-,NM_017784.4(OSBPL10) c.1727-217T>C:-,0.56:-,NOT_FOUND 3 31725196 rs17849744 G A 173 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.985,A/0.01498;PC=0.999;Gene=OSBPL10/NM_001174060.1/0;CC=c.1464C>T;ProtCh=p.C488=;VC=Silent;Gene=OSBPL10/NM_017784.4/1;CC=c.1656C>T;ProtCh=p.C552=;VC=Silent;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:105:80:0:0:55,50:1784,1553:173.18,0.00:101.45,0.00:71.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,17.0:0,0:0,0:60,74:89,73:39,42:NM_017784.4(OSBPL10) c.1656C>T (p.(=)),-:0.02,-:0.027064,- 3 31725316 rs2278959 G A 223 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=143;DB;DBA=NA;PAF=G/0.7654,A/0.2346;Gene=OSBPL10/NM_001174060.1/0;CC=c.1344C>T;ProtCh=p.H448=;VC=Silent;Gene=OSBPL10/NM_017784.4/1;CC=c.1536C>T;ProtCh=p.H512=;VC=Silent;DM=OSBPL10/Oxysterol_BP;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:143:98:0:0:71,72:2319,2213:222.75,0.00:122.78,0.00:99.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,16.8:0,0:0,0:58,65:89,85:36,34:NM_017784.4(OSBPL10) c.1536C>T (p.(=)),-:0.27,-:0.230355,- 3 31725607 . C . . NT END=31743850;NT GT ./. 3 31725672 rs3214836 TA T 77 nt VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=TA/0.8343,T/0.1657;NP=337;PC=0.002;Gene=OSBPL10/NM_001174060.1/0;CC=c.1054-67delT;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1246-67delT;VC=Intron;DM=OSBPL10/Oxysterol_BP;DM=OSBPL10/Oxysterol_BP;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:50:10:0:26:24,26:755,797:0.00,77.07:0.00,16.37:0.00,60.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.2,52.9:0,0:0,0:91,80:51,70:42,14:-,NM_017784.4(OSBPL10) c.1246-67delT:-,0.16:-,NOT_FOUND 3 31725691 rs2278960 T C 162 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.3444,C/0.6556;Gene=OSBPL10/NM_001174060.1/0;CC=c.1054-85A>G;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1246-85A>G;VC=Intron;DM=OSBPL10/Oxysterol_BP;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:114:A,C:45:7:0:0:1,44:10,1412:0.20,161.66:0.00,21.57:0.20,140.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.0,50.3:0,0:0,0:20,97:125,53:0,30:NM_017784.4(OSBPL10) c.1246-85A>G,NM_017784.4(OSBPL10) c.1246-85A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 3 31725746 rs12488137 C A 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.7185,A/0.2815;Gene=OSBPL10/NM_001174060.1/0;CC=c.1054-140G>T;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1246-140G>T;VC=Intron;DM=OSBPL10/Oxysterol_BP;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:26:2:0:0:16,10:464,310:46.51,0.00:3.27,0.00:43.24,0.00:1.00,0.00:0.88,0.00:1.00,0.00:60,60:68.8,40.0:0,0:0,0:113,93:37,58:34,12:NM_017784.4(OSBPL10) c.1246-140G>T,-:0.29,-:NOT_FOUND,- 3 31725829 rs17027961 C T 11 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9335,T/0.06649;Gene=OSBPL10/NM_001174060.1/0;CC=c.1054-223G>A;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1246-223G>A;VC=Intron;DM=OSBPL10/Oxysterol_BP;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:7:0:0:0:3,4:96,108:0.00,10.60:0.00,0.00:0.00,10.60:0.00,0.90:0.00,0.00:0.00,0.90:60,60:42.7,66.2:0,0:0,0:133,114:5,36:13,13:-,NM_017784.4(OSBPL10) c.1246-223G>A:-,0.06:-,NOT_FOUND 3 31729773 rs61205554 T A,TCACA 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;NP=3;NP=34;NP=4;NP=42;PC=0.001;DM=OSBPL10/Oxysterol_BP;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:11:A,T,TCACA:4:4:1:0:2,1,1:68,12,24:6.86,0.00,2.15:5.02,0.00,2.15:1.84,0.00,0.00:0.51,0.00,0.00:0.51,0.00,0.00:0.67,0.00,0.00:60,60,60:97.5,147.0,80.0:0,0,0:0,0,0:81,67,83:52,83,68:7,0,0:NM_017784.4(OSBPL10) c.1246-4167A>T,NM_017784.4(OSBPL10) c.1246-4168_1246-4167insTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 31729775 rs55643097 T A 8 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=8;PC=0.001;Gene=OSBPL10/NM_001174060.1/0;CC=c.1054-4169A>T;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1246-4169A>T;VC=Intron;DM=OSBPL10/Oxysterol_BP;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:A,T:4:4:0:0:3,1:74,35:7.81,0.00:6.24,0.00:1.58,0.00:0.85,0.00:0.85,0.00:0.95,0.00:60,60:91.7,147.0:1,0:0,0:89,69:60,81:2,0:NM_017784.4(OSBPL10) c.1246-4169A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 31744001 . C . . NT END=31750206;NT GT ./. 3 31744233 rs3805074 T C 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4423,C/0.5577;Gene=OSBPL10/NM_001174060.1/0;CC=c.904-233A>G;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1096-233A>G;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:152:18.03:0.00:18.03:1.00:0.00:1.00:60:46.5:0:0:121:29:16:NM_017784.4(OSBPL10) c.1096-233A>G,NM_017784.4(OSBPL10) c.1096-233A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 3 31750520 rs3805072 G A 268 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.6556,A/0.3444;Gene=OSBPL10/NM_001174060.1/0;CC=c.904-6520C>T;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.1096-6520C>T;VC=Intron;Gene=OSBPL10-AS1/NR_049771.1/0;VC=NonCoding;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:38:0:0:70:2344:267.73:94.65:173.08:1.00:1.00:1.00:60:42.9:0:0:93:52:34:NM_017784.4(OSBPL10) c.1096-6520C>T,NM_017784.4(OSBPL10) c.1096-6520C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 3 31750551 . G . . NT END=31774748;NT GT ./. 3 31774904 . C . . NT END=31789401;NT GT ./. 3 31789284 rs2290531 T C 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.4397,C/0.5603;Gene=OSBPL10/NM_001174060.1/0;CC=c.748+118A>G;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.940+118A>G;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:25:0:0:12,13:363,393:34.47,0.00:34.47,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.6,13.4:0,0:0,0:26,35:124,116:14,20:NM_017784.4(OSBPL10) c.940+118A>G,-:0.58,-:NOT_FOUND,- 3 31789582 rs2290532 T C 118 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.5725,C/0.4275;PC=1.000;Gene=OSBPL10/NM_001174060.1/0;CC=c.568A>G;ProtCh=p.N190D;VC=Missense;Gene=OSBPL10/NM_017784.4/1;CC=c.760A>G;ProtCh=p.N254D;VC=Missense;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:85:48:0:0:39,1,45:1250,10,1461:118.42,-0.12,0.00:37.27,0.02,0.00:81.15,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:35.6,20.0,8.5:0,0,0:0,0,0:102,92,98:49,55,52:42,0,26:NM_017784.4(OSBPL10) c.760A>G (p.Asn254Asp),-:0.46,-:0.329463,- 3 31789613 . C . . NT END=31871531;NT GT ./. 3 31789724 rs2290533 C T 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.5713,T/0.4287;Gene=OSBPL10/NM_001174060.1/0;CC=c.538-112G>A;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.730-112G>A;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:23:1:0:0:12,1,10:334,13,317:0.00,0.31,29.90:0.00,-0.02,-0.25:0.00,0.32,30.15:0.00,0.00,1.00:0.00,0.00,0.62:0.00,0.00,1.00:60,60,60:14.5,122.0,47.6:0,0,0:0,0,0:108,10,97:42,141,54:16,0,13:-,NM_017784.4(OSBPL10) c.730-112G>A:-,0.46:-,NOT_FOUND 3 31871724 . C . . NT END=31917924;NT GT ./. 3 31875254 rs12186070 T C 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8097,C/0.1903;PC=0.001;Gene=OSBPL10/NM_001174060.1/0;CC=c.537+42671A>G;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.538-3531A>G;VC=Intron;DM=OSBPL10/Oxysterol_BP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,T:8:3:0:0:5,3:155,64:15.60,0.00:3.40,0.00:12.20,0.00:0.97,0.00:0.95,0.00:1.00,0.00:60,21:45.4,11.3:0,0:0,0:89,101:37,50:24,8:NM_017784.4(OSBPL10) c.538-3531A>G,-:0.2,-:NOT_FOUND,- 3 31918005 . C . . NT END=31921146;NT GT ./. 3 31921323 . C . . NT END=32022390;NT GT ./. 3 31921624 rs7629505 A G 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2075,G/0.7925;Gene=OSBPL10/NM_001174060.1/0;CC=c.282-302T>C;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.282-302T>C;VC=Intron;DM=OSBPL10/PH_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:126:14.50:0.00:14.50:1.00:0.00:1.00:60:62.0:0:0:126:24:15:NM_017784.4(OSBPL10) c.282-302T>C,NM_017784.4(OSBPL10) c.282-302T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 3 32022333 . GCA G 41 sb;idl,rn VT=DEL;SST=Single;DP=111;NP=3;Gene=OSBPL10/NM_001174060.1/0;CC=c.281+56_281+57delTG;VC=Intron;Gene=OSBPL10/NM_017784.4/1;CC=c.281+56_281+57delTG;VC=Intron;DM=OSBPL10/PH_8;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GCA,I,G:108:105:2:21:4,85,2,17:131,2458,65,626:7.90,0.00,3.31,40.67:6.86,0.00,2.38,38.89:1.03,0.00,0.93,1.78:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.93:60,60,60,70:97.2,10.7,9.0,16.9:1,1,0,3:0,0,0,0:25,37,14,25:87,114,136,120:1,25,9,15:-,NM_017784.4(OSBPL10) c.281+56_281+57delTG:-,NOT_FOUND:-,NOT_FOUND 3 32022672 . G . . NT END=32030571;NT GT ./. 3 32032471 . A . . NT END=32148203;NT GT ./. 3 32147913 rs13095243 G A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2256,A/0.7744 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:A:8:7:0:0:8:202:23.93:19.85:4.08:1.00:1.00:1.00:60:81.5:0:0:53:97:21:NM_015141.3(GPD1L) c.-201-u90G>A,NM_015141.3(GPD1L) c.-201-u90G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 3 32147977 rs6805518 T G 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.1278,G/0.8722 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:19:0:0:20:541:63.59:59.81:3.78:1.00:1.00:1.00:60:72.2:0:0:45:105:29:NM_015141.3(GPD1L) c.-201-u26T>G,NM_015141.3(GPD1L) c.-201-u26T>G:0.87,0.87:NOT_FOUND,NOT_FOUND 3 32148251 . G . . NT END=32169567;NT GT ./. 3 32169746 . G . . NT END=32180078;NT GT ./. 3 32180220 . G . . NT END=32181719;NT GT ./. 3 32181403 rs12637969 A G 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5899,G/0.4101;PC=0.003;Gene=GPD1L/NM_015141.3/1;CC=c.367-317A>G;VC=Intron;DM=GPD1L/NAD_Gly3P_dh_N;DM=GPD1L/NAD_Gly3P_dh_N;DM=GPD1L/NAD_Gly3P_dh_N;DM=GPD1L/NAD_Gly3P_dh_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:4:4:0:0:1,3:30,78:0.00,8.25:0.00,8.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,35.3:0,0:0,0:2,20:149,130:0,17:-,NM_015141.3(GPD1L) c.367-317A>G:-,0.39:-,NOT_FOUND 3 32181859 . G . . NT END=32188113;NT GT ./. 3 32187880 rs9876851 A G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.5236,G/0.4764;Gene=GPD1L/NM_015141.3/1;CC=c.506-234A>G;VC=Intron;DM=GPD1L/NAD_Gly3P_dh_N;DM=GPD1L/NAD_Gly3P_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:7:7:0:0:3,4:98,126:0.00,12.43:0.00,12.43:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:8.0,64.5:0,0:0,0:16,61:135,89:5,8:-,NM_015141.3(GPD1L) c.506-234A>G:-,0.43:-,NOT_FOUND 3 32187943 rs9839669 G T 27 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5236,T/0.4764;Gene=GPD1L/NM_015141.3/1;CC=c.506-171G>T;VC=Intron;DM=GPD1L/NAD_Gly3P_dh_N;DM=GPD1L/NAD_Gly3P_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:G,T:14:14:0:0:6,8:157,270:0.00,26.70:0.00,26.70:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:4.0,68.9:0,0:0,0:38,35:111,114:28,34:-,NM_015141.3(GPD1L) c.506-171G>T:-,0.43:-,NOT_FOUND 3 32188006 rs9839702 G A 24 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.5327,A/0.4673;Gene=GPD1L/NM_015141.3/1;CC=c.506-108G>A;VC=Intron;DM=GPD1L/NAD_Gly3P_dh_N;DM=GPD1L/NAD_Gly3P_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:8,13:259,427:23.66,0.00:23.66,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:53.2,9.8:0,0:0,0:64,35:87,115:30,33:NM_015141.3(GPD1L) c.506-108G>A,-:0.42,-:NOT_FOUND,- 3 32188227 . G . . NT END=32200217;NT GT ./. 3 32200233 rs2305362 G A 128 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.3307,A/0.6693;Gene=GPD1L/NM_015141.3/1;CC=c.619-135G>A;VC=Intron;DM=GPD1L/NAD_Gly3P_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:97:79:0:0:44,53:1362,1794:128.11,0.00:96.24,0.00:31.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.8,11.8:0,0:0,0:68,56:81,94:34,24:NM_015141.3(GPD1L) c.619-135G>A,-:0.65,-:NOT_FOUND,- 3 32200322 rs2305361 T C 157 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=T/0.5206,C/0.4794;Gene=GPD1L/NM_015141.3/1;CC=c.619-46T>C;VC=Intron;DM=GPD1L/NAD_Gly3P_dh_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:126:91:0:0:52,74:1697,2266:157.47,0.00:88.49,0.00:68.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.2,11.0:0,0:0,0:78,65:73,85:37,32:NM_015141.3(GPD1L) c.619-46T>C,-:0.47,-:0.383751,- 3 32200325 . T . . NT END=32200367;NT GT ./. 3 32200602 . G . . NT END=32201059;NT GT ./. 3 32200973 rs59329824 G GA 21 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.5084,A/0.4916;Gene=GPD1L/NM_015141.3/1;CC=c.853-79dupA;VC=Intron;DM=GPD1L/NAD_Gly3P_dh_C;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GA:21:20:7:1:2,11,1,7:44,311,26,225:2.92,0.00,1.53,20.58:1.54,0.00,1.55,19.21:1.38,0.00,-0.02,1.37:0.00,0.00,0.00,0.97:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.73:60,60,35,60:76.0,13.1,162.0,20.4:0,0,1,0:0,0,0,0:56,50,91,13:82,96,42,138:4,20,0,6:-,NM_015141.3(GPD1L) c.853-87_853-86insA:-,NOT_FOUND:-,NOT_FOUND 3 32201167 . G . . NT END=32207305;NT GT ./. 3 32207403 . A . . NT END=32280464;NT GT ./. 3 32207606 rs6799559 A G 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5212,G/0.4788;Gene=GPD1L/NM_015141.3/1;CC=c.*204A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,G:5:0:0:0:3,2:101,69:0.00,6.39:0.00,0.00:0.00,6.39:0.00,0.46:0.00,0.00:0.00,0.46:60,60:0.0,66.5:0,0:0,0:114,65:36,86:5,53:-,NM_015141.3(GPD1L) c.*204A>G:-,0.47:-,NOT_FOUND 3 32232267 rs375138362 TGAA T 19 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=TGAA/0.9788,T/0.02117;NP=30;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGAA,T:15:12:0:6:9,6:263,202:0.00,18.69:0.00,14.35:0.00,4.34:0.00,0.96:0.00,0.99:0.00,0.97:60,70:22.3,0.0:0,0:0,0:92,49:59,101:21,17:-,chr3 g.32232268_32232270delGAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 32232333 rs11129506 T C 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6122,C/0.3878;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:10:0:0:10,10:280,289:26.71,0.00:6.84,0.00:19.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,32.9:0,0:0,0:46,53:103,88:30,48:chr3 g.32232332T>C (intergenic),-:0.41,-:NOT_FOUND,- 3 32232582 rs58009329 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.6492,T/0.3508;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:C,T:21:10:0:0:17,4:532,133:0.00,10.77:0.00,2.62:0.00,8.15:0.00,0.70:0.00,0.83:0.00,0.92:60,60:14.3,46.5:0,0:0,0:82,52:68,98:28,11:-,chr3 g.32232581C>T (intergenic):-,0.38:-,NOT_FOUND 3 32232782 rs60078861 G T 20 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.7093,T/0.2907;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:12:0:0:13,7:420,220:0.00,19.71:0.00,7.27:0.00,12.44:0.00,0.97:0.00,0.99:0.00,0.99:60,60:2.6,45.3:0,0:0,0:84,90:63,33:24,27:-,chr3 g.32232781G>T (intergenic):-,0.3:-,NOT_FOUND 3 32233185 rs58670635 TA T 10 idl,rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TA/0.3169,T/0.6831;NP=183;PC=0.878;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:TA,I,T:10:3:1:6:5,1,4:141,21,138:0.00,1.34,10.48:0.00,-0.06,2.44:0.00,1.40,8.03:0.00,0.00,0.82:0.00,0.00,0.76:0.00,0.00,0.97:60,60,60:17.2,90.0,30.5:0,0,1:0,0,0:135,94,107:15,56,44:1,0,20:-,chr3 g.32233186delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 32254822 rs57755663 T TTGTGTG 10 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=25;NP=68;PC=0.002;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:T,TTGTGTG:5:5:3:0:2,3:54,100:0.00,9.97:0.00,6.57:0.00,3.41:0.00,0.78:0.00,0.78:0.00,0.94:60,70:53.0,70.0:1,0:0,0:114,60:36,78:9,8:-,chr3 g.32254822_32254823insTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 32272979 rs11710979 T C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4259,C/0.5741;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:139:15.81:5.97:9.84:1.00:1.00:1.00:60:41.8:0:0:67:83:25:NM_178868.3(CMTM8) c.-294-u7192T>C,NM_178868.3(CMTM8) c.-294-u7192T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 32280612 . G . . NT END=32398864;NT GT ./. 3 32280814 . G A 17 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;PC=0.002;Gene=CMTM8/NM_178868.3/1;CC=c.147+203G>A;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,G:11:0:0:0:6,5:173,167:16.87,0.00:0.00,0.00:16.87,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:58.5,11.8:0,0:0,0:140,98:10,51:3,7:NM_178868.3(CMTM8) c.147+203G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 32300698 rs7615324 C A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.00639,A/0.9936;NP=2877;PC=1.000;Gene=CMTM8/NM_178868.3/1;CC=c.147+20087C>A;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:130:14.91:11.03:3.88:1.00:1.00:1.00:60:35.0:0:0:93:49:9:NM_178868.3(CMTM8) c.147+20087C>A,NM_178868.3(CMTM8) c.147+20087C>A:0.99,0.99:NOT_FOUND,NOT_FOUND 3 32300879 . T C 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;Gene=CMTM8/NM_178868.3/1;CC=c.147+20268T>C;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,T:6:5:0:0:5,1:170,8:18.33,0.00:8.93,0.00:9.40,0.00:0.99,0.00:1.00,0.00:1.00,0.00:60,60:40.4,124.0:0,0:0,0:73,79:55,72:23,0:NM_178868.3(CMTM8) c.147+20268T>C,NM_178868.3(CMTM8) c.147+20268T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 32301106 rs4245883 C T 72 nt VT=SNV;PN=G;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.2161,T/0.7839;PC=0.034;Gene=CMTM8/NM_178868.3/1;CC=c.147+20495C>T;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:19:0:0:20:625:72.01:53.07:18.93:1.00:1.00:1.00:60:40.5:0:0:45:105:20:NM_178868.3(CMTM8) c.147+20495C>T,NM_178868.3(CMTM8) c.147+20495C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 3 32301217 rs4245884 A C 79 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.3962,C/0.6038;PC=1.000;Gene=CMTM8/NM_178868.3/1;CC=c.147+20606A>C;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:41:31:0:0:17,24:550,796:0.00,78.96:0.00,43.06:0.00,35.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.2,41.6:0,0:0,0:76,76:55,74:31,25:-,NM_178868.3(CMTM8) c.147+20606A>C:-,0.61:-,NOT_FOUND 3 32301274 rs34009828 T A 40 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.8193,A/0.1807;Gene=CMTM8/NM_178868.3/1;CC=c.147+20663T>A;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:37:18:0:0:14,23:439,723:39.93,0.00:10.03,0.00:29.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,28.3:0,0:0,0:112,87:28,64:18,31:NM_178868.3(CMTM8) c.147+20663T>A,-:0.17,-:NOT_FOUND,- 3 32301422 rs6771370 C A 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.8367,A/0.1633;PC=0.002;Gene=CMTM8/NM_178868.3/1;CC=c.147+20811C>A;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:30:24:0:0:11,19:334,615:30.07,0.00:23.60,0.00:6.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,5.4:0,0:0,0:84,61:65,90:24,35:NM_178868.3(CMTM8) c.147+20811C>A,-:0.15,-:NOT_FOUND,- 3 32301786 rs6796318 A G 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.8181,G/0.1819;PC=0.967;Gene=CMTM8/NM_178868.3/1;CC=c.147+21175A>G;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:11:0:0:13,15:411,495:0.00,48.28:0.00,7.90:0.00,40.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.8,51.2:1,0:0,0:115,91:35,60:15,26:-,NM_178868.3(CMTM8) c.147+21175A>G:-,0.17:-,NOT_FOUND 3 32399039 . G . . NT END=32409363;NT GT ./. 3 32399181 rs2289244 G A 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3884,A/0.6116;Gene=CMTM8/NM_178868.3/1;CC=c.321+143G>A;VC=Intron;DM=CMTM8/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:A,G:12:0:0:0:8,4:246,141:25.10,0.00:0.00,0.00:25.10,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:33.5,0.0:0,0:0,0:90,84:60,66:25,22:NM_178868.3(CMTM8) c.321+143G>A,-:0.65,-:NOT_FOUND,- 3 32409481 . G . . NT END=32411375;NT GT ./. 3 32411460 . T . . NT END=32433398;NT GT ./. 3 32433333 rs3732846 C A 95 nt VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.9127,A/0.08726;PC=0.001;Gene=CMTM7/NM_138410.2/1;CC=c.-66C>A;VC=5UTR;Gene=CMTM7/NM_181472.1/0;CC=c.-66C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:64:60:0:0:34,29,1:982,962,6:95.45,0.00,-0.15:70.27,0.00,-0.11:25.18,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:75.1,15.6,106.0:0,0,0:0,0,0:71,40,107:78,99,44:27,28,0:NM_138410.2(CMTM7) c.-66C>A,-:0.07,-:NOT_FOUND,- 3 32433342 rs149855043 T C 115 nt VT=SNV;PN=C;NN=G;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.9093,C/0.09065;Gene=CMTM7/NM_138410.2/1;CC=c.-57T>C;VC=5UTR;Gene=CMTM7/NM_181472.1/0;CC=c.-57T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:70:64:0:0:39,31:1175,942:115.14,0.00:79.18,0.00:35.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.1,11.3:0,0:0,0:80,49:68,91:30,32:NM_138410.2(CMTM7) c.-57T>C,-:0.09,-:NOT_FOUND,- 3 32433558 . G . . NT END=32483331;NT GT ./. 3 32433585 rs3732845 G C 116 nt VT=SNV;PN=A;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.9155,C/0.08446;PC=0.062;Gene=CMTM7/NM_138410.2/1;CC=c.159+28G>C;VC=Intron;Gene=CMTM7/NM_181472.1/0;CC=c.159+28G>C;VC=Intron;DM=CMTM7/MARVEL;DM=CMTM7/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:79:43:0:0:40,38,1:1205,1201,12:115.90,0.00,-0.02:36.85,0.00,-0.08:79.05,0.00,0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.6,14.6,111.0:0,0,0:0,0,0:111,109,16:34,41,135:24,19,0:NM_138410.2(CMTM7) c.159+28G>C,-:0.08,-:0.038171,- 3 32483506 . G . . NT END=32490945;NT GT ./. 3 32491045 . G . . NT END=32493557;NT GT ./. 3 32493682 rs342745 A G 180 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=137;DB;DBA=NA;PAF=A/0.2784,G/0.7216;Gene=CMTM7/NM_138410.2/1;CC=c.433-202A>G;VC=Intron;Gene=CMTM7/NM_181472.1/0;CC=c.334-202A>G;VC=Intron;DM=CMTM7/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:137:107:0:0:75,62:2512,1912:0.00,179.75:0.00,111.39:0.00,68.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,39.5:0,0:0,0:70,63:81,81:26,29:-,NM_138410.2(CMTM7) c.433-202A>G:-,0.73:-,NOT_FOUND 3 32493878 . C . . NT END=32493883;NT GT ./. 3 32493966 . G . . NT END=32495732;NT GT ./. 3 32495747 . T . . NT END=32525451;NT GT ./. 3 32525590 . C . . NT END=32529429;NT GT ./. 3 32529529 . C . . NT END=32533201;NT GT ./. 3 32533379 . C . . NT END=32544099;NT GT ./. 3 32544238 . C . . NT END=32568290;NT GT ./. 3 32549930 . GGTGT G 8 idl,rn VT=DEL;SST=Single;DP=10;NP=5;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:GGTGT,G:8:7:0:5:5,3:152,147:0.00,7.89:0.00,0.97:0.00,6.92:0.00,0.62:0.00,0.89:0.00,0.92:60,60:22.0,23.0:0,2:0,0:115,51:34,64:14,25:-,NM_017801.2(CMTM6) c.-166-u5531_-166-u5528delACAC:-,NOT_FOUND:-,NOT_FOUND 3 32568145 rs35822941 CCA C 11 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=108;PC=0.783;Gene=DYNC1LI1/NM_016141.3/1;CC=c.*144_*145delTG;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:CCA,I,C:21:21:1:5:16,1,4:492,33,156:0.00,2.11,10.86:0.00,2.15,11.03:0.00,-0.04,-0.17:0.00,0.00,0.70:0.00,0.00,0.96:0.00,0.00,0.50:60,60,60:6.1,0.0,7.5:0,0,1:0,0,0:58,99,69:89,50,82:18,0,20:-,NM_016141.3(DYNC1LI1) c.*122TG[11]:-,NOT_FOUND:-,NOT_FOUND 3 32568401 . C . . NT END=32569937;NT GT ./. 3 32570094 . C . . NT END=32571031;NT GT ./. 3 32571153 . C . . NT END=32571775;NT GT ./. 3 32571821 . C . . NT END=32571952;NT GT ./. 3 32571823 . G GA 14 sb;idl,rn VT=INS;SST=Single;DP=64;NP=1;Gene=DYNC1LI1/NM_016141.3/1;CC=c.1141-4dupT;VC=Intron;DM=DYNC1LI1/DLIC;DM=DYNC1LI1/DLIC;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,G,T,GA,D:60:47:6:10:4,43,1,6,6:106,1339,11,191,286:6.67,0.00,-0.11,13.97,11.68:-0.72,0.00,0.01,12.14,2.85:7.39,0.00,-0.12,1.82,8.84:0.00,0.00,0.00,0.81,0.00:0.00,0.00,0.00,0.96,0.00:0.00,0.00,0.00,0.90,0.00:60,60,60,60,60:76.2,21.7,78.0,36.0,33.8:1,0,0,0,4:0,0,0,0,0:69,94,142,69,80:82,44,8,81,70:25,30,0,22,15:-,NM_016141.3(DYNC1LI1) c.1141-4_1141-3insT:-,NOT_FOUND:-,NOT_FOUND 3 32572013 . C . . NT END=32574477;NT GT ./. 3 32574590 . C . . NT END=32576002;NT GT ./. 3 32576139 . C . . NT END=32578502;NT GT ./. 3 32578597 . C . . NT END=32582528;NT GT ./. 3 32582699 . C . . NT END=32586367;NT GT ./. 3 32586599 . C . . NT END=32587340;NT GT ./. 3 32587458 . C . . NT END=32611837;NT GT ./. 3 32587603 rs342732 T C 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.003395,C/0.9966;NP=1595;Gene=DYNC1LI1/NM_016141.3/1;CC=c.221-146A>G;VC=Intron;DM=DYNC1LI1/DLIC;DM=DYNC1LI1/DLIC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:337:38.47:0.00:38.47:1.00:0.00:1.00:60:38.2:0:0:88:60:51:NM_016141.3(DYNC1LI1) c.221-146A>G,NM_016141.3(DYNC1LI1) c.221-146A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 32611912 . C . . NT END=32612116;NT GT ./. 3 32612270 . G . . NT END=32726952;NT GT ./. 3 32726975 . G . . NT END=32737032;NT GT ./. 3 32737320 . G . . NT END=32745359;NT GT ./. 3 32745455 . G . . NT END=32746302;NT GT ./. 3 32746288 . GT G 21 idl,rn VT=DEL;SST=Single;DP=81;NP=80;Gene=CNOT10/NM_001256741.1/0;CC=c.118-3delT;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.118-3delT;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.298-3delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:GT,T,I,G:78:64:9:11:60,1,8,9:1840,33,282,345:0.00,1.55,18.08,20.56:0.00,1.67,8.50,10.00:0.00,-0.12,9.58,10.56:0.00,0.00,0.00,0.97:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:20.3,69.0,18.6,7.8:0,1,1,2:0,0,0,0:69,55,69,51:73,96,77,86:26,0,19,17:-,NM_001256742.1(CNOT10) c.298-14delT:-,NOT_FOUND:-,NOT_FOUND 3 32746465 . G . . NT END=32750161;NT GT ./. 3 32746522 rs7429569 A G 106 nt VT=SNV;PN=A;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.609,G/0.391;PC=0.066;Gene=CNOT10/NM_001256741.1/0;CC=c.279+58A>G;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.279+58A>G;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.459+58A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:9:0:0:28:930:106.27:22.02:84.25:1.00:1.00:1.00:60:42.5:0:0:93:57:22:NM_001256742.1(CNOT10) c.459+58A>G,NM_001256742.1(CNOT10) c.459+58A>G:0.43,0.43:NOT_FOUND,NOT_FOUND 3 32750313 . G . . NT END=32754718;NT GT ./. 3 32754862 . G . . NT END=32757716;NT GT ./. 3 32757804 . G . . NT END=32758645;NT GT ./. 3 32758730 . G . . NT END=32761605;NT GT ./. 3 32758763 rs11129531 G A 76 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.611,A/0.389;Gene=CNOT10/NM_001256741.1/0;CC=c.744+34G>A;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.744+34G>A;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.924+34G>A;VC=Intron;DM=CNOT10/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A,C:21:9:0:0:20,1:667,12:75.81,0.49:20.76,0.00:55.06,0.49:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,12.0:0,0:0,0:111,36:39,115:18,0:NM_001256742.1(CNOT10) c.924+34G>A,NM_001256742.1(CNOT10) c.924+34G>A:0.46,0.46:NOT_FOUND,NOT_FOUND 3 32761481 rs13092303 A G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.01238,G/0.9876;Gene=CNOT10/NM_001256741.1/0;CC=c.745-125A>G;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.745-125A>G;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.925-125A>G;VC=Intron;DM=CNOT10/TPR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:373:42.55:42.55:0.00:1.00:1.00:0.00:60:34.7:0:0:38:112:37:NM_001256742.1(CNOT10) c.925-125A>G,NM_001256742.1(CNOT10) c.925-125A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 32761724 . G . . NT END=32766941;NT GT ./. 3 32767092 . G . . NT END=32769159;NT GT ./. 3 32769363 . G . . NT END=32774914;NT GT ./. 3 32769425 . TA T 7 idl,rn VT=DEL;SST=Single;DP=27;NP=10;PC=0.003;Gene=CNOT10/NM_001256741.1/0;CC=c.1215+79delA;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.1215+79delA;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.1395+79delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:TA,I,T:25:5:3:6:18,3,4:489,91,155:0.00,6.76,7.26:0.00,2.62,0.94:0.00,4.14,6.33:0.00,0.00,0.66:0.00,0.00,0.54:0.00,0.00,0.95:60,60,60:35.6,39.0,64.8:0,0,2:0,0,0:111,74,56:36,67,91:19,39,17:-,NM_001256742.1(CNOT10) c.1395+64delA:-,NOT_FOUND:-,NOT_FOUND 3 32769471 rs565394334 TTTTATTTATTTA T 30 idl,nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=77;PC=0.001;Gene=CNOT10/NM_001256741.1/0;CC=c.1215+129_1215+140delATTTATTTATTT;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.1215+129_1215+140delATTTATTTATTT;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.1395+129_1395+140delATTTATTTATTT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:TTTTATTTATTTA,T:12:1:0:11:3,9:97,354:0.00,30.32:0.00,3.18:0.00,27.14:0.00,1.00:0.00,0.76:0.00,1.00:60,60:7.0,34.4:0,2:0,0:131,84:19,66:10,9:-,NM_001256742.1(CNOT10) c.1395+110_1395+121delTTTATTTATTTA:-,NOT_FOUND:-,NOT_FOUND 3 32774754 rs9799359 T C 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5353,C/0.4647;PC=0.003;Gene=CNOT10/NM_001256741.1/0;CC=c.1216-161T>C;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.1216-161T>C;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.1396-161T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:170:19.38:19.38:0.00:1.00:1.00:0.00:60:73.8:0:0:66:85:40:NM_001256742.1(CNOT10) c.1396-161T>C,NM_001256742.1(CNOT10) c.1396-161T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 3 32774782 rs9798936 A G 29 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2298,G/0.7702;PC=0.107;Gene=CNOT10/NM_001256741.1/0;CC=c.1216-133A>G;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.1216-133A>G;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.1396-133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:251:28.90:26.92:1.99:1.00:1.00:1.00:60:58.4:0:0:32:119:14:NM_001256742.1(CNOT10) c.1396-133A>G,NM_001256742.1(CNOT10) c.1396-133A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 3 32775037 . G . . NT END=32776291;NT GT ./. 3 32776469 . G . . NT END=32778901;NT GT ./. 3 32778983 . G . . NT END=32800949;NT GT ./. 3 32800622 rs397989125 AGT A 17 sb,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AGT/0.1985,A/0.8015;DB;DBA=NA;PAF=AGT/0.1985,A/0.8015;DB;DBA=NA;PAF=AGT/0.1985,A/0.8015;NP=119;PC=0.001;Gene=CNOT10/NM_001256741.1/0;CC=c.1515-305_1515-304delGT;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.1596-305_1596-304delGT;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.1776-305_1776-304delGT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:5:5:151:17.48:15.54:1.94:1.00:1.00:1.00:60:25.6:0:0:48:99:8:NM_001256742.1(CNOT10) c.1776-327_1776-326delGT,NM_001256742.1(CNOT10) c.1776-327_1776-326delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 32801064 . G . . NT END=32804224;NT GT ./. 3 32804356 . G . . NT END=32805946;NT GT ./. 3 32805828 . CA C 7 idl,rn VT=DEL;SST=Single;DP=24;NP=16;PC=0.036;Gene=CNOT10/NM_001256741.1/0;CC=c.1760-105delA;VC=Intron;Gene=CNOT10/NM_015442.2/0;CC=c.1841-105delA;VC=Intron;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.2021-105delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CA,I,C:22:24:3:4:17,2,3:582,99,123:0.00,4.75,6.74:0.00,4.77,5.33:0.00,-0.02,1.41:0.00,0.00,0.47:0.00,0.00,0.47:0.00,0.00,0.36:60,60,60:11.6,0.0,15.7:0,1,1:0,0,0:52,89,38:95,61,112:38,23,13:-,NM_001256742.1(CNOT10) c.2021-118delA:-,NOT_FOUND:-,NOT_FOUND 3 32805983 . G . . NT END=32806173;NT GT ./. 3 32806302 . G . . NT END=32806541;NT GT ./. 3 32806559 . t . . NT END=32811378;NT GT ./. 3 32811455 . G . . NT END=32814948;NT GT ./. 3 32815104 . T . . NT END=32859572;NT GT ./. 3 32815231 rs2396631 A T 65 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.01957,T/0.9804;PC=0.002;Gene=CNOT10/NM_001256741.1/0;CC=c.*128A>T;VC=3UTR;Gene=CNOT10/NM_015442.2/0;CC=c.*128A>T;VC=3UTR;Gene=CNOT10/NR_046352.1/0;VC=NonCoding;Gene=CNOT10/NM_001256742.1/1;CC=c.*128A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:0:0:0:18:561:64.64:0.00:64.64:1.00:0.00:1.00:60:37.4:0:0:97:53:33:NM_001256742.1(CNOT10) c.=,NM_001256742.1(CNOT10) c.=:0.98,0.98:NOT_FOUND,NOT_FOUND 3 32827112 rs71068082 GA G 13 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GA/0.5771,G/0.4229;DB;DBA=NA;PAF=GA/0.5771,G/0.4229;NP=622;PC=0.003;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:GA,G:5:5:0:4:1,4:12,126:0.00,13.46:0.00,13.46:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:69.0,25.0:0,0:0,0:129,36:13,104:0,19:-,chr3 g.32827113delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 32860425 . G . . NT END=32915309;NT GT ./. 3 32871118 rs67407739 T TTGTGTG 8 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=29;NP=34;PC=0.001;Gene=TRIM71/NM_001039111.1/1;CC=c.852+10719_852+10720insGTGTGT;VC=Intron;DM=TRIM71/zf-B_box;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:T,TTGTGTG:6:5:3:0:3,3:56,88:0.00,8.45:0.00,2.05:0.00,6.40:0.00,0.73:0.00,0.96:0.00,0.89:60,60:73.7,31.0:0,0:0,0:103,67:48,84:33,1:-,NM_001039111.1(TRIM71) c.852+10694_852+10695insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 32915214 rs6799979 C G 98 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.009784,G/0.9902;NP=3464;Gene=TRIM71/NM_001039111.1/1;CC=c.853-96C>G;VC=Intron;DM=TRIM71/zf-B_box GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:25:0:0:27:847:97.52:88.08:9.44:1.00:1.00:1.00:60:53.3:0:0:58:93:29:NM_001039111.1(TRIM71) c.853-96C>G,NM_001039111.1(TRIM71) c.853-96C>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 32915478 . G . . NT END=32927425;NT GT ./. 3 32927509 rs6774703 G T 694 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=181;DB;DBA=NA;PAF=G/0.009385,T/0.9906;NP=3470;Gene=TRIM71/NM_001039111.1/1;CC=c.1104G>T;ProtCh=p.T368=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:181:132:0:0:181:6079:694.04:341.47:352.56:1.00:1.00:1.00:60:39.3:0:0:81:68:26:NM_001039111.1(TRIM71) c.1104G>T (p.(=)),NM_001039111.1(TRIM71) c.1104G>T (p.(=)):0.99,0.99:0.993442,0.993442 3 32927561 . G . . NT END=32931851;NT GT ./. 3 32933304 . T . . NT END=32994914;NT GT ./. 3 32933344 rs386355848 G GTC 45 idl,rn VT=INS;SST=Single;DP=99;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=731;Gene=TRIM71/NM_001039111.1/1;CC=c.*62_*63insCT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTC,D:95:38:20:5:74,18,3:2376,632,160:0.00,45.33,5.59:0.00,13.42,-0.02:0.00,31.91,5.61:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:11.5,12.1,0.0:1,2,2:0,0,0:108,88,107:28,60,44:29,28,12:-,NM_001039111.1(TRIM71) c.*61_*62dupCT:-,NOT_FOUND:-,NOT_FOUND 3 32933360 rs533646641 C CTT 72 nt VT=INS;SST=Single;DP=77;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=62;NP=69;PC=0.023;Gene=TRIM71/NM_001039111.1/1;CC=c.*58_*59insTT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTT:76:27:26:0:45,6,25:1520,154,824:0.00,10.22,71.93:0.00,0.98,15.14:0.00,9.24,56.79:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:70,60,60:7.8,50.7,8.8:0,0,1:0,0,0:113,27,95:35,122,56:28,14,20:-,NM_001039111.1(TRIM71) c.*58T[3]:-,NOT_FOUND:-,NOT_FOUND 3 32933370 rs200667818 CTT C 88 nt VT=DEL;SST=Single;DP=70;DB;DBA=NA;PAF=NA;NP=256;PC=0.014;Gene=TRIM71/NM_001039111.1/1;CC=c.*69_*70delTT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:70:24:0:30:40,30:1347,940:0.00,87.54:0.00,17.03:0.00,70.51:0.00,1.00:0.00,1.00:0.00,1.00:70,60:9.2,14.3:0,0:0,0:104,103:45,46:35,18:-,NM_001039111.1(TRIM71) c.*68T[1]:-,0.24:-,NOT_FOUND 3 32933427 . CT C 14 idl,rn VT=DEL;SST=Single;DP=44;NP=2;Gene=TRIM71/NM_001039111.1/1;CC=c.*136delT;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:CT,G,I,C:43:3:3:7:33,1,3,6:984,12,96,215:0.00,-0.03,6.53,13.78:0.00,-0.02,-0.06,-0.13:0.00,-0.01,6.59,13.91:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.41:0.00,0.00,0.00,0.99:60,60,60,60:10.0,90.0,11.3,33.8:0,0,0,1:0,0,0,0:117,0,77,80:31,151,71,70:24,0,42,26:-,NM_001039111.1(TRIM71) c.*125T[11]:-,NOT_FOUND:-,NOT_FOUND 3 32995928 rs2228428 C T 119 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.8532,T/0.1468;Gene=CCR4/NM_005508.4/1;CC=c.1014C>T;ProtCh=p.Y338=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:50:0:0:44,39:1473,1251:0.00,118.78:0.00,68.82:0.00,49.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,39.4:0,0:0,0:65,71:85,61:39,37:-,NM_005508.4(CCR4) c.1014C>T (p.(=)):-,0.17:-,0.235425 3 32995998 . A . . NT END=33038536;NT GT ./. 3 33038837 . C . . NT END=33055547;NT GT ./. 3 33055721 rs4302331 A G 1026 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=275;DB;DBA=NA;PAF=A/0.07288,G/0.9271;Gene=GLB1/NM_001079811.1/1;CC=c.1471T>C;ProtCh=p.C491R;VC=Missense;Gene=GLB1/NM_000404.2/0;CC=c.1561T>C;ProtCh=p.C521R;VC=Missense;Gene=GLB1/NM_001135602.1/0;CC=c.1168T>C;ProtCh=p.C390R;VC=Missense;Gene=GLB1/NM_001317040/0;CC=c.1705T>C;ProtCh=p.C569R;VC=Missense;DM=GLB1/BetaGal_dom4_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:275:166:0:0:1,274:12,8963:0.07,1026.09:0.07,426.22:0.00,599.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:114.0,38.6:0,0:0,0:22,78:128,69:0,35:NM_000404.2(GLB1) c.=,NM_000404.2(GLB1) c.=:0.94,0.94:0.932636,0.932636 3 33055803 . C . . NT END=33058200;NT GT ./. 3 33058333 . C . . NT END=33059939;NT GT ./. 3 33060054 . C . . NT END=33063057;NT GT ./. 3 33063148 . C . . NT END=33065742;NT GT ./. 3 33065818 . C . . NT END=33072026;NT GT ./. 3 33072304 . C . . NT END=33086804;NT GT ./. 3 33086737 rs200825931 CT C 10 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=9;PC=0.018;Gene=GLB1/NM_001079811.1/1;CC=c.978+874delA;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.1068+874delA;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.675+874delA;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.1212+874delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CT,I,C:21:21:2:4:15,2,4:500,64,126:0.00,4.66,10.25:0.00,4.66,10.25:0.00,0.00,0.00:0.00,0.00,0.70:0.00,0.00,0.70:0.00,0.00,0.00:60,60,60:29.3,32.5,50.8:0,0,0:0,0,0:40,49,21:109,101,127:25,8,10:-,NM_000404.2(GLB1) c.1068+874delA:-,NOT_FOUND:-,NOT_FOUND 3 33087057 rs11927929 T C 302 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.7925,C/0.2075;PC=0.224;Gene=GLB1/NM_001079811.1/1;CC=c.978+555A>G;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.1068+555A>G;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.675+555A>G;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.1212+555A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:83:53:0:0:83:2629:302.20:145.06:157.14:1.00:1.00:1.00:60:37.9:0:0:72:77:42:NM_000404.2(GLB1) c.1068+555A>G,NM_000404.2(GLB1) c.1068+555A>G:0.24,0.24:NOT_FOUND,NOT_FOUND 3 33087282 . C . . NT END=33087611;NT GT ./. 3 33087725 . C . . NT END=33093249;NT GT ./. 3 33093095 rs386396321 C CA 11 idl,rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;Gene=GLB1/NM_001079811.1/1;CC=c.865+154_865+155insT;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.955+154_955+155insT;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.562+154_562+155insT;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.1099+154_1099+155insT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C,G,CA,D:20:22:5:5:1,11,1,4,3:33,355,11,158,144:2.20,0.00,0.18,11.16,7.71:-0.21,0.00,0.18,11.16,7.71:2.41,0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.69,0.00:0.00,0.00,0.00,0.96,0.00:0.00,0.00,0.00,0.45,0.00:60,60,59,60,70:121.0,44.7,197.0,78.5,54.7:1,0,0,1,2:0,0,0,0,0:59,33,22,28,24:92,118,121,122,127:0,33,0,12,11:-,NM_000404.2(GLB1) c.955+154_955+155insT:-,NOT_FOUND:-,NOT_FOUND 3 33093190 rs12632196 T C 245 nt VT=SNV;PN=C;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.2198,C/0.7802;Gene=GLB1/NM_001079811.1/1;CC=c.865+60A>G;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.955+60A>G;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.562+60A>G;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.1099+60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:C,T:71:68:0:0:70,1:2142,13:245.47,0.00:219.46,0.00:26.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,59:47.6,197.0:0,0:0,0:45,118:104,25:28,0:NM_000404.2(GLB1) c.955+60A>G,NM_000404.2(GLB1) c.955+60A>G:0.82,0.82:0.744415,0.744415 3 33093291 . C . . NT END=33093374;NT GT ./. 3 33093497 . C . . NT END=33094982;NT GT ./. 3 33093628 rs6550200 A C 241 nt VT=SNV;PN=G;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.3918,C/0.6082;Gene=GLB1/NM_001079811.1/1;CC=c.703-132T>G;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.793-132T>G;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.400-132T>G;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.937-132T>G;VC=Intron;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:C,T:69:10:0:0:68,1:2092,11:241.02,0.17:26.85,0.00:214.17,0.17:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,21.0:0,0:0,0:111,17:39,134:26,0:NM_000404.2(GLB1) c.793-132T>G,NM_000404.2(GLB1) c.793-132T>G:0.65,0.65:NOT_FOUND,NOT_FOUND 3 33095042 . C . . NT END=33099580;NT GT ./. 3 33099762 . C . . NT END=33106954;NT GT ./. 3 33099880 rs7637435 T C 153 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.03834,C/0.9617;Gene=GLB1/NM_001079811.1/1;CC=c.463-119A>G;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.553-119A>G;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.341-4839A>G;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.697-119A>G;VC=Intron;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:129:A,C:52:4:0:0:1,51:11,1296:0.22,152.66:0.00,7.90:0.22,144.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:88.0,32.2:0,0:0,0:47,112:103,39:0,29:NM_000404.2(GLB1) c.553-119A>G,NM_000404.2(GLB1) c.553-119A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 33100736 rs71823511 TACAC T 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;PC=0.011;Gene=GLB1/NM_001079811.1/1;CC=c.463-979_463-976delGTGT;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.553-979_553-976delGTGT;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.341-5699_341-5696delGTGT;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.697-979_697-976delGTGT;VC=Intron;DM=GLB1/Glyco_hydro_35;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TACAC,T:4:4:0:3:2,2:67,67:0.00,6.45:0.00,4.96:0.00,1.49:0.00,0.51:0.00,0.51:0.00,0.89:60,60:6.5,16.0:0,0:0,0:112,69:36,69:5,27:-,NM_000404.2(GLB1) c.553-979_553-976delGTGT:-,NOT_FOUND:-,NOT_FOUND 3 33107050 . C . . NT END=33109721;NT GT ./. 3 33109487 rs9865113 T C 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.02716,C/0.9728;Gene=GLB1/NM_001079811.1/1;CC=c.367+235A>G;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.457+235A>G;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.246-2438A>G;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.601+235A>G;VC=Intron;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C:10:10:0:0:10:297:34.43:34.43:0.00:1.00:1.00:0.00:60:40.8:0:0:57:91:54:NM_000404.2(GLB1) c.457+235A>G,NM_000404.2(GLB1) c.457+235A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 3 33109783 . C . . NT END=33110311;NT GT ./. 3 33110190 rs11129543 G T 325 nt VT=SNV;PN=T;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.5557,T/0.4443;Gene=GLB1/NM_001079811.1/1;CC=c.306+122C>A;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.396+122C>A;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.246-3141C>A;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.540+122C>A;VC=Intron;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:97:92:0:0:97:2790:324.67:305.62:19.05:1.00:1.00:1.00:60:40.0:0:0:47:104:33:NM_000404.2(GLB1) c.396+122C>A,NM_000404.2(GLB1) c.396+122C>A:0.49,0.49:NOT_FOUND,NOT_FOUND 3 33110383 rs35289681 G A 414 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=290;DB;DBA=in-clinvar;PAF=G/0.9908,A/0.009185;PC=0.884;Gene=GLB1/NM_001079811.1/1;CC=c.235C>T;ProtCh=p.R79W;VC=Missense;Gene=GLB1/NM_000404.2/0;CC=c.325C>T;ProtCh=p.R109W;VC=Missense;Gene=GLB1/NM_001135602.1/0;CC=c.246-3334C>T;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.469C>T;ProtCh=p.R157W;VC=Missense;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:290:191:0:0:132,1,157:4370,31,4993:413.51,0.89,0.00:169.97,-0.10,0.00:243.54,0.99,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.7,179.0,6.8:0,0,0:0,0,0:80,25,60:63,126,82:37,0,35:NM_000404.2(GLB1) c.325C>T (p.Arg109Trp),-:0.01,-:0.015285,- 3 33110463 . C . . NT END=33114035;NT GT ./. 3 33110656 rs7610916 T C 149 nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.03594,C/0.9641;Gene=GLB1/NM_001079811.1/1;CC=c.156-194A>G;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.246-194A>G;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.245+3380A>G;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.390-194A>G;VC=Intron;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:C:45:0:0:0:45:1275:148.67:0.00:148.67:1.00:0.00:1.00:60:49.3:0:0:96:44:29:NM_000404.2(GLB1) c.246-194A>G,NM_000404.2(GLB1) c.246-194A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 33114206 . C . . NT END=33118585;NT GT ./. 3 33118552 . T TA 37 idl,rn VT=INS;SST=Single;DP=102;NP=1;PC=0.001;Gene=GLB1/NM_001079811.1/1;CC=c.-15-4348_-15-4347insT;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.76-4348_76-4347insT;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.76-4348_76-4347insT;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.219+33_219+34insT;VC=Intron;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:102:92:16:6:80,16,6:2548,485,198:0.00,37.35,13.18:0.00,24.20,7.36:0.00,13.15,5.82:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.4,11.1,0.0:0,0,0:0,0,0:36,27,30:108,119,120:23,13,9:-,NM_000404.2(GLB1) c.76-4348_76-4347insT:-,NOT_FOUND:-,NOT_FOUND 3 33118730 . C . . NT END=33131907;NT GT ./. 3 33119046 rs4678642 A T 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=1119;PC=1.000;Gene=GLB1/NM_001079811.1/1;CC=c.-15-4841T>A;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.76-4841T>A;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.76-4841T>A;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.76-317T>A;VC=Intron;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:8:0:0:15:500:57.15:21.27:35.88:1.00:1.00:1.00:60:37.5:0:0:78:73:19:NM_000404.2(GLB1) c.76-4841T>A,NM_000404.2(GLB1) c.76-4841T>A:1,1:NOT_FOUND,NOT_FOUND 3 33129837 rs4130167 T C 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2167,C/0.7833;PC=0.016;Gene=GLB1/NM_001079811.1/1;CC=c.-16+8374A>G;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.75+8666A>G;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.75+8666A>G;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.75+8666A>G;VC=Intron;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:170:19.38:9.84:9.54:1.00:1.00:1.00:60:36.0:0:0:59:92:23:NM_000404.2(GLB1) c.75+8666A>G,NM_000404.2(GLB1) c.75+8666A>G:0.79,0.79:NOT_FOUND,NOT_FOUND 3 33129860 . TACACACAC T 6 nt VT=DEL;SST=Single;DP=4;PC=0.002;Gene=GLB1/NM_001079811.1/1;CC=c.-16+8343_-16+8350delGTGTGTGT;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.75+8635_75+8642delGTGTGTGT;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.75+8635_75+8642delGTGTGTGT;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.75+8635_75+8642delGTGTGTGT;VC=Intron;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:TACACACAC,T:3:3:0:3:1,2:11,96:0.00,6.36:0.00,-0.09:0.00,6.46:0.00,0.51:0.00,0.89:0.00,0.51:60,60:35.0,55.0:0,1:0,0:105,77:41,73:0,5:-,NM_000404.2(GLB1) c.75+8635_75+8642delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 33132144 rs7612234 A G 597 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.1945,G/0.8055;PC=0.004;Gene=GLB1/NM_001079811.1/1;CC=c.-16+6067T>C;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.75+6359T>C;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.75+6359T>C;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.75+6359T>C;VC=Intron;Gene=TMPPE/NM_001039770.2/1;CC=c.*2182T>C;VC=3UTR;Gene=TMPPE/NM_001136238.1/0;CC=c.*2182T>C;VC=3UTR;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:156:112:0:0:1,154,1:10,5262,11:0.00,597.39,0.08:0.00,329.77,0.08:0.00,267.62,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:103.0,41.0,32.0:0,0,0:0,0,0:48,74,64:102,75,87:0,36,0:NM_001039770.2(TMPPE) c.*2182T>C,NM_001039770.2(TMPPE) c.*2182T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 3 33132873 rs10865849 A G 683 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=184;DB;DBA=NA;PAF=NA;NP=57;Gene=GLB1/NM_001079811.1/1;CC=c.-16+5338T>C;VC=Intron;Gene=GLB1/NM_000404.2/0;CC=c.75+5630T>C;VC=Intron;Gene=GLB1/NM_001135602.1/0;CC=c.75+5630T>C;VC=Intron;Gene=GLB1/NM_001317040/0;CC=c.75+5630T>C;VC=Intron;Gene=TMPPE/NM_001039770.2/1;CC=c.*1453T>C;VC=3UTR;Gene=TMPPE/NM_001136238.1/0;CC=c.*1453T>C;VC=3UTR;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:184:115:0:0:1,182,1:10,5969,13:0.05,682.56,0.11:0.05,320.03,0.11:0.00,362.53,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:136.0,39.5,13.0:0,0,0:0,0,0:110,68,47:41,78,103:0,37,0:NM_001039770.2(TMPPE) c.*1453T>C,NM_001039770.2(TMPPE) c.*1453T>C:1,1:NOT_FOUND,NOT_FOUND 3 33135796 . C . . NT END=33137830;NT GT ./. 3 33137995 . C . . NT END=33138210;NT GT ./. 3 33138315 . g . . NT END=33138502;NT GT ./. 3 33138544 rs7614776 A G 747 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=192;DB;DBA=in-clinvar;PAF=A/0.07228,G/0.9277;PC=0.127;Gene=GLB1/NM_000404.2/0;CC=c.34T>C;ProtCh=p.L12=;VC=Silent;Gene=GLB1/NM_001135602.1/0;CC=c.34T>C;ProtCh=p.L12=;VC=Silent;Gene=GLB1/NM_001317040/0;CC=c.34T>C;ProtCh=p.L12=;VC=Silent;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:192:124:0:0:192:6559:747.39:337.33:410.06:1.00:1.00:1.00:60:71.6:0:0:70:76:32:NM_000404.2(GLB1) c.34T>C (p.(=)),NM_000404.2(GLB1) c.34T>C (p.(=)):0.93,0.93:0.882562,0.882562 3 33138549 rs7637099 G A 730 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=196;DB;DBA=in-clinvar;PAF=G/0.5681,A/0.4319,C/.;Gene=GLB1/NM_000404.2/0;CC=c.29C>T;ProtCh=p.P10L;VC=Missense;Gene=GLB1/NM_001135602.1/0;CC=c.29C>T;ProtCh=p.P10L;VC=Missense;Gene=GLB1/NM_001317040/0;CC=c.29C>T;ProtCh=p.P10L;VC=Missense;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35;DM=GLB1/Glyco_hydro_35 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:196:126:0:0:195,1:6376,10:729.98,0.05:327.93,0.05:402.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.0,108.0:0,0:0,0:66,111:81,40:29,0:NM_000404.2(GLB1) c.29C>T (p.Pro10Leu),NM_000404.2(GLB1) c.29C>T (p.Pro10Leu):0.47,0.47:0.473956,0.473956 3 33138578 . G . . NT END=33155569;NT GT ./. 3 33138763 rs7637133 C A 78 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.5673,A/0.4327 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:A,G:26:0:0:0:25,1:664,10:77.67,0.30:0.00,0.00:77.67,0.30:1.00,0.00:0.00,0.00:1.00,0.00:60,60:78.8,129.0:0,0:0,0:88,79:55,72:25,0:NM_000404.2(GLB1) c.-117-u69G>T,NM_000404.2(GLB1) c.-117-u69G>T:0.47,0.47:NOT_FOUND,NOT_FOUND 3 33138764 rs17522953 G C 86 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.5673,C/0.4327;PC=0.388 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:0:0:0:27:730:85.67:0.00:85.67:1.00:0.00:1.00:60:78.9:0:0:86:62:24:NM_000404.2(GLB1) c.-117-u70C>G,NM_000404.2(GLB1) c.-117-u70C>G:0.48,0.48:NOT_FOUND,NOT_FOUND 3 33155385 rs6550207 T C 54 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.153,C/0.847 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:476:54.28:54.28:0.00:1.00:1.00:0.00:60:55.5:0:0:29:122:23:NM_006371.4(CRTAP) c.-120-u65T>C,NM_006371.4(CRTAP) c.-120-u65T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 33156041 . G . . NT END=33161835;NT GT ./. 3 33156196 rs7611841 T C 69 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1192,C/0.8808;Gene=CRTAP/NM_006371.4/1;CC=c.471+156T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:0:0:0:21:594:69.28:0.00:69.28:1.00:0.00:1.00:60:41.4:0:0:94:56:28:NM_006371.4(CRTAP) c.471+156T>C,NM_006371.4(CRTAP) c.471+156T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 3 33161986 . g . . NT END=33165899;NT GT ./. 3 33165920 . G A 122 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=105;PC=1.000;Gene=CRTAP/NM_006371.4/1;CC=c.642G>A;ProtCh=p.V214=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:105:82:0:0:43,62:1320,2129:121.64,0.00:61.67,0.00:59.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.4,7.6:0,0:0,0:47,63:93,74:23,33:NM_006371.4(CRTAP) c.642G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 33166072 . G . . NT END=33171430;NT GT ./. 3 33171560 . G . . NT END=33174046;NT GT ./. 3 33171659 rs4392367 A G 97 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.142,G/0.858;Gene=CRTAP/NM_006371.4/1;CC=c.922+100A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:4:0:0:27:840:96.78:9.88:86.91:1.00:1.00:1.00:60:40.2:0:0:105:46:38:NM_006371.4(CRTAP) c.922+100A>G,NM_006371.4(CRTAP) c.922+100A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 33174156 rs1135127 T G 139 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.7065,C/.,G/0.2935;PC=1.000;Gene=CRTAP/NM_006371.4/1;CC=c.1032T>G;ProtCh=p.T344=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:92:49:0:0:46,46:1445,1536:138.68,0.00:38.55,0.00:100.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.1,5.2:0,0:0,0:77,90:72,60:40,40:NM_006371.4(CRTAP) c.1032T>G (p.(=)),-:0.28,-:0.384361,- 3 33174168 rs1135128 G A 144 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.7065,A/0.2935;Gene=CRTAP/NM_006371.4/1;CC=c.1044G>A;ProtCh=p.S348=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:46:0:0:45,46:1501,1439:144.12,0.00:45.22,0.00:98.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.6,6.8:0,0:0,0:85,66:62,85:36,29:NM_006371.4(CRTAP) c.1044G>A (p.(=)),-:0.28,-:0.384284,- 3 33174193 . G . . NT END=33175673;NT GT ./. 3 33174495 rs62250517 A G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1693,G/0.8307;PC=0.005;Gene=CRTAP/NM_006371.4/1;CC=c.1068+303A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:129:14.81:3.78:11.03:1.00:1.00:1.00:60:32.2:3:0:123:23:19:NM_006371.4(CRTAP) c.1068+303A>G,NM_006371.4(CRTAP) c.1068+303A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 33175758 . G . . NT END=33183886;NT GT ./. 3 33175793 rs4234239 C A 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.1262,A/0.8738;PC=0.008;Gene=CRTAP/NM_006371.4/1;CC=c.1152+36C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:4:0:0:12:392:44.92:12.57:32.35:1.00:1.00:1.00:60:35.3:0:0:106:42:37:NM_006371.4(CRTAP) c.1152+36C>A,NM_006371.4(CRTAP) c.1152+36C>A:0.88,0.88:0.854529,0.854529 3 33175854 rs58617854 A G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.7023,G/0.2977;PC=0.291;Gene=CRTAP/NM_006371.4/1;CC=c.1152+97A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,G:7:0:0:0:4,3:114,99:0.00,9.27:0.00,0.00:0.00,9.27:0.00,0.69:0.00,0.00:0.00,0.69:60,60:74.5,45.0:0,0:0,0:74,59:76,92:6,5:-,NM_006371.4(CRTAP) c.1152+97A>G:-,0.28:-,NOT_FOUND 3 33183941 . C . . NT END=33194233;NT GT ./. 3 33194138 rs6773595 T C 176 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.1016,C/0.8984;Gene=SUSD5/NM_015551.1/1;CC=c.*96A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:50:0:0:52:1514:175.96:167.04:8.92:1.00:1.00:1.00:60:40.8:0:0:49:93:30:NM_015551.1(SUSD5) c.*96A>G,NM_015551.1(SUSD5) c.*96A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 33195526 . C . . NT END=33210011;NT GT ./. 3 33206461 rs57064428 AACAC A 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=63;PC=0.002;Gene=SUSD5/NM_015551.1/1;CC=c.598+9913_598+9916delGTGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:5:3:130:10.86:9.08:1.78:0.85:0.85:0.83:60:18.0:1:0:13:104:4:NM_015551.1(SUSD5) c.598+9913_598+9916delGTGT,NM_015551.1(SUSD5) c.598+9913_598+9916delGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 33210090 . G . . NT END=33216377;NT GT ./. 3 33216357 rs57072412 G A 360 nt VT=SNV;PN=G;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.7534,A/0.2466;Gene=SUSD5/NM_015551.1/1;CC=c.598+21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:102:94:0:0:100,2:3171,52:360.46,0.00:272.23,0.00:88.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,5.0:0,0:0,0:58,56:91,95:34,4:NM_015551.1(SUSD5) c.598+21C>T,NM_015551.1(SUSD5) c.598+21C>T:0.25,0.25:0.331326,0.331326 3 33216567 . C . . NT END=33249299;NT GT ./. 3 33240706 rs60865684 T TCA 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=181;NP=9;PC=0.021;Gene=SUSD5/NM_015551.1/1;CC=c.409+8593_409+8594insTG;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:G,T,TCA,D:6:5:3:1:1,1,3,1:13,34,83,33:0.93,0.00,8.53,2.92:1.01,0.00,6.10,3.00:-0.08,0.00,2.42,-0.08:0.00,0.00,0.73,0.00:0.00,0.00,0.96,0.00:0.00,0.00,0.89,0.00:60,60,60,60:75.0,0.0,15.3,29.0:0,0,0,0:0,0,0,0:59,113,38,26:92,38,71,125:0,0,24,0:-,NM_015551.1(SUSD5) c.409+8593_409+8594insTG:-,NOT_FOUND:-,NOT_FOUND 3 33249370 rs61744674 A C 90 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=A/0.9984,C/0.001597;NP=39;PC=0.038;Gene=SUSD5/NM_015551.1/1;CC=c.339T>G;ProtCh=p.A113=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:72:46:0:0:39,33:1315,958:0.00,89.83:0.00,36.91:0.00,52.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,39.6:0,0:0,0:65,74:86,65:44,33:-,NM_015551.1(SUSD5) c.339T>G (p.(=)):-,0.0032:-,0.003686 3 33249419 . C . . NT END=33255419;NT GT ./. 3 33255592 rs9637517 A G 450 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.05032,G/0.9497;PC=1.000;Gene=SUSD5/NM_015551.1/1;CC=c.118T>C;ProtCh=p.F40L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:119:50:0:0:119:3931:449.61:119.01:330.60:1.00:1.00:1.00:60:40.8:0:0:90:57:27:NM_015551.1(SUSD5) c.118T>C (p.Phe40Leu),NM_015551.1(SUSD5) c.118T>C (p.Phe40Leu):0.93,0.93:0.893119,0.893119 3 33255598 . C . . NT END=33260177;NT GT ./. 3 33260290 . G . . NT END=33319004;NT GT ./. 3 33260422 rs6764459 C T 51 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7546,T/0.2454;PC=0.966;Gene=SUSD5/NM_015551.1/1;CC=c.-133G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:0:0:0:14,17:370,516:0.00,50.54:0.00,0.00:0.00,50.54:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.2,40.4:0,0:0,0:124,82:26,68:20,33:-,NM_015551.1(SUSD5) c.-133G>A:-,0.22:-,NOT_FOUND 3 33319008 . G . . NT END=33331160;NT GT ./. 3 33331288 . G . . NT END=33339155;NT GT ./. 3 33339136 rs374976671 CT C 9 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=62;Gene=FBXL2/NM_012157.3/1;CC=c.4-9delT;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.4-9delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:CT,I,C:38:35:4:4:31,3,4:997,123,128:0.00,6.12,9.30:0.00,5.42,8.47:0.00,0.70,0.83:0.00,0.00,0.59:0.00,0.00,0.93:0.00,0.00,0.79:60,60,60:25.2,42.7,2.8:0,1,0:0,0,0:58,41,33:81,109,117:32,29,20:-,NM_012157.3(FBXL2) c.4-19delT:-,NOT_FOUND:-,NOT_FOUND 3 33339218 . G . . NT END=33400458;NT GT ./. 3 33370293 . A ATG 7 rn VT=INS;SST=Single;DP=4;NP=1;NP=15;PC=0.006;Gene=FBXL2/NM_012157.3/1;CC=c.66-30133_66-30132insGT;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.66-30133_66-30132insGT;VC=Intron;DM=FBXL2/F-box-like;DM=FBXL2/F-box;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,ATG:3:3:3:0:1,2:34,100:0.00,6.85:0.00,6.85:0.00,0.00:0.00,0.51:0.00,0.89:0.00,0.67:60,60:58.0,0.0:0,1:0,0:31,102:119,49:0,2:-,NM_012157.3(FBXL2) c.66-30166_66-30165insTG:-,NOT_FOUND:-,NOT_FOUND 3 33400514 . G . . NT END=33400774;NT GT ./. 3 33400850 . G . . NT END=33406116;NT GT ./. 3 33406125 rs17192791 G T 123 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.9928,T/0.007188;PC=1.000;Gene=FBXL2/NM_012157.3/1;CC=c.204G>T;ProtCh=p.V68=;VC=Silent;Gene=FBXL2/NM_001171713.1/0;CC=c.204G>T;ProtCh=p.V68=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:73:57:0:0:34,39:1113,1259:0.00,122.58:0.00,74.84:0.00,47.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,37.6:0,0:0,0:58,36:86,98:25,20:-,NM_012157.3(FBXL2) c.204G>T (p.(=)):-,0.01:-,0.015993 3 33406212 . G . . NT END=33414583;NT GT ./. 3 33406429 rs67835672 C T 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6609,T/0.3391;Gene=FBXL2/NM_012157.3/1;CC=c.290+218C>T;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.290+218C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,T:5:0:0:0:1,4:32,115:0.00,12.32:0.00,0.00:0.00,12.32:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,54.0:0,0:0,0:71,141:80,8:0,5:-,NM_012157.3(FBXL2) c.290+218C>T:-,0.33:-,NOT_FOUND 3 33414468 rs4678933 G C 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.5675,C/0.4325;Gene=FBXL2/NM_012157.3/1;CC=c.291-116G>C;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.291-116G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:21:0:0:8,13:233,424:21.04,0.00:19.72,0.00:1.32,0.00:0.99,0.00:0.99,0.00:0.68,0.00:60,60:49.6,6.7:0,0:0,0:67,63:82,86:17,23:NM_012157.3(FBXL2) c.291-116G>C,-:0.41,-:NOT_FOUND,- 3 33414653 . G . . NT END=33414732;NT GT ./. 3 33414848 . G . . NT END=33415069;NT GT ./. 3 33414923 rs2291898 G A 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.4858,A/0.5142,T/.;Gene=FBXL2/NM_012157.3/1;CC=c.455+76G>A;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.400+131G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:21:0:0:21,14:643,390:64.10,0.00:32.12,0.00:31.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,8.6:0,0:0,0:77,79:74,72:38,46:NM_012157.3(FBXL2) c.455+76G>A,-:0.48,-:NOT_FOUND,- 3 33415197 . G . . NT END=33415338;NT GT ./. 3 33415414 . G . . NT END=33416779;NT GT ./. 3 33416653 rs114895481 G T 48 nt VT=SNV;PN=T;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.9928,T/0.007188;Gene=FBXL2/NM_012157.3/1;CC=c.658-127G>T;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.454-127G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:47:47:0:0:29,18:931,534:0.00,48.38:0.00,45.23:0.00,3.15:0.00,1.00:0.00,1.00:0.00,0.86:60,60:2.4,40.9:0,0:0,0:35,45:116,96:22,28:-,NM_012157.3(FBXL2) c.658-127G>T:-,0.01:-,NOT_FOUND 3 33416911 . G . . NT END=33418764;NT GT ./. 3 33418826 . G . . NT END=33419594;NT GT ./. 3 33419422 rs2291897 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6709,T/0.3291;Gene=FBXL2/NM_012157.3/1;CC=c.850-173C>T;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.646-173C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:C,T:12:12:0:0:7,5:220,149:0.00,13.75:0.00,13.75:0.00,0.00:0.00,0.92:0.00,0.92:0.00,0.00:60,60:21.0,32.6:0,0:0,0:76,60:74,90:26,37:-,NM_012157.3(FBXL2) c.850-173C>T:-,0.32:-,NOT_FOUND 3 33419640 . G . . NT END=33420176;NT GT ./. 3 33420327 . G . . NT END=33425480;NT GT ./. 3 33420650 rs6776248 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.503,C/0.497;Gene=FBXL2/NM_012157.3/1;CC=c.951+417T>C;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.747+417T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,T:5:1:0:0:3,2:86,69:8.57,0.00:-0.20,0.00:8.77,0.00:0.78,0.00:0.73,0.00:0.78,0.00:60,60:38.7,81.0:0,0:0,0:129,52:8,95:9,20:NM_012157.3(FBXL2) c.951+417T>C,-:0.45,-:NOT_FOUND,- 3 33425694 . G . . NT END=33426992;NT GT ./. 3 33426883 rs17030546 C G 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.623,G/0.377;Gene=FBXL2/NM_012157.3/1;CC=c.1165-110C>G;VC=Intron;Gene=FBXL2/NM_001171713.1/0;CC=c.961-110C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:14:14:0:0:7,7:221,237:0.00,22.83:0.00,22.83:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:1.6,35.3:0,0:0,0:52,37:99,114:41,4:-,NM_012157.3(FBXL2) c.1165-110C>G:-,0.36:-,NOT_FOUND 3 33427101 . C . . NT END=33431822;NT GT ./. 3 33431861 . C . . NT END=33434054;NT GT ./. 3 33432091 rs6783672 G A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6933,A/0.3067;Gene=UBP1/NM_001128160.1/0;CC=c.1478-231C>T;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.1586-231C>T;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.1586-231C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:194:22.26:0.00:22.26:1.00:0.00:1.00:60:32.3:0:0:122:28:7:NM_014517.4(UBP1) c.1586-231C>T,NM_014517.4(UBP1) c.1586-231C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 3 33434107 . C . . NT END=33434803;NT GT ./. 3 33434128 rs62252101 G A 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.9439,A/0.05611;PC=0.001;Gene=UBP1/NM_001128160.1/0;CC=c.1426-22C>T;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.1534-22C>T;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.1534-22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:15:0:0:16,17:527,543:50.41,0.00:12.86,0.00:37.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.9,11.2:0,0:0,0:109,92:41,59:24,36:NM_014517.4(UBP1) c.1534-22C>T,-:0.08,-:0.117177,- 3 33434831 rs2293250 G A 97 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.4599,A/0.5401;PC=0.956;Gene=UBP1/NM_001128160.1/0;CC=c.1398C>T;ProtCh=p.T466=;VC=Silent;Gene=UBP1/NM_014517.4/0;CC=c.1506C>T;ProtCh=p.T502=;VC=Silent;Gene=UBP1/NM_001128161.1/1;CC=c.1506C>T;ProtCh=p.T502=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:72:62:0:0:31,40,1:1031,1141,14:96.80,0.00,0.06:63.32,0.00,0.13:33.48,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.0,8.2,25.0:0,0,0:0,0,0:70,75,79:80,68,72:27,42,0:NM_014517.4(UBP1) c.1506C>T (p.(=)),-:0.53,-:0.492004,- 3 33434947 . C . . NT END=33437653;NT GT ./. 3 33434954 . TA T 35 idl,rn VT=DEL;SST=Single;DP=68;NP=34;PC=0.948;Gene=UBP1/NM_001128160.1/0;CC=c.1283-9delT;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.1391-9delT;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.1391-9delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:65:30:6:15:1,46,4,14:34,1303,173,448:1.76,0.00,6.73,34.50:-0.10,0.00,1.91,12.07:1.85,0.00,4.82,22.43:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:34.0,16.2,41.0,16.1:1,0,2,1:0,0,0,0:23,91,74,54:127,51,52,86:0,29,23,45:-,NM_014517.4(UBP1) c.1391-9delT:-,NOT_FOUND:-,0.152973 3 33437544 rs3817476 T C 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6783,C/0.3217;Gene=UBP1/NM_001128160.1/0;CC=c.1282+110A>G;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.1390+110A>G;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.1390+110A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,T:13:13:0:0:5,8:163,232:14.94,0.00:14.94,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:35.0,9.0:0,0:0,0:54,52:97,98:30,29:NM_014517.4(UBP1) c.1390+110A>G,-:0.31,-:NOT_FOUND,- 3 33437773 . C . . NT END=33438536;NT GT ./. 3 33438628 . C . . NT END=33441680;NT GT ./. 3 33441775 . C . . NT END=33442453;NT GT ./. 3 33442509 . C . . NT END=33444292;NT GT ./. 3 33444286 rs623244 T G 91 nt VT=SNV;PN=C;NN=A;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.4687,A/.,G/0.5313;Gene=UBP1/NM_001128160.1/0;CC=c.923+7A>C;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.1031+7A>C;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.1031+7A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:84:74:0:0:33,51:1002,1706:91.43,0.00:69.21,0.00:22.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,6.4:0,0:0,0:37,41:109,101:27,31:NM_014517.4(UBP1) c.1031+7A>C,-:0.56,-:0.642626,- 3 33444397 . C . . NT END=33450181;NT GT ./. 3 33450290 . C . . NT END=33450727;NT GT ./. 3 33450839 . C . . NT END=33450940;NT GT ./. 3 33451094 . C . . NT END=33453072;NT GT ./. 3 33453180 . C . . NT END=33454213;NT GT ./. 3 33454320 . C . . NT END=33458249;NT GT ./. 3 33454342 rs2272152 G A 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.6727,A/0.3273;Gene=UBP1/NM_001128160.1/0;CC=c.343-23C>T;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.343-23C>T;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.343-23C>T;VC=Intron;DM=UBP1/CP2;DM=UBP1/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:32:13:0:0:21,10,1:680,294,10:69.56,0.00,0.12:20.52,0.00,0.24:49.04,0.00,-0.12:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:34.4,3.3,77.0:0,0,0:0,0,0:100,91,121:50,59,30:27,53,0:NM_014517.4(UBP1) c.343-23C>T,-:0.32,-:0.229125,- 3 33458266 rs3736563 T C 55 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.521,A/.,C/0.479;PC=1.000;Gene=UBP1/NM_001128160.1/0;CC=c.326A>G;ProtCh=p.N109S;VC=Missense;Gene=UBP1/NM_014517.4/0;CC=c.326A>G;ProtCh=p.N109S;VC=Missense;Gene=UBP1/NM_001128161.1/1;CC=c.326A>G;ProtCh=p.N109S;VC=Missense;DM=UBP1/CP2;DM=UBP1/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:30:0:0:17,22:581,716:54.61,0.00:26.78,0.00:27.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,9.9:0,0:0,0:38,76:105,74:14,18:NM_014517.4(UBP1) c.326A>G (p.Asn109Ser),-:0.45,-:0.368041,- 3 33458327 . C . . NT END=33467081;NT GT ./. 3 33466819 rs2276710 T G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6697,G/0.3303;PC=0.621;Gene=UBP1/NM_001128160.1/0;CC=c.265+263A>C;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.265+263A>C;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.265+263A>C;VC=Intron;DM=UBP1/CP2;DM=UBP1/CP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:G,T:4:4:0:0:2,2:67,67:6.45,0.00:6.45,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:45.0,0.0:0,0:0,0:30,62:119,87:4,15:NM_014517.4(UBP1) c.265+263A>C,-:0.32,-:NOT_FOUND,- 3 33467234 . C . . NT END=33481227;NT GT ./. 3 33467364 rs61620772 T TTTTAA 34 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=112;PC=0.001;Gene=UBP1/NM_001128160.1/0;CC=c.114-136_114-132dupTTAAA;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.114-136_114-132dupTTAAA;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.114-136_114-132dupTTAAA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTTAA:19:0:12:0:8,11:241,377:0.00,34.13:0.00,0.00:0.00,34.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:39.4,7.8:0,1:0,0:105,91:45,60:33,24:-,NM_014517.4(UBP1) c.114-132_114-131insTTAAA:-,NOT_FOUND:-,NOT_FOUND 3 33480964 rs68175969 G C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6699,C/0.3301;Gene=UBP1/NM_001128160.1/0;CC=c.113+264C>G;VC=Intron;Gene=UBP1/NM_014517.4/0;CC=c.113+264C>G;VC=Intron;Gene=UBP1/NM_001128161.1/1;CC=c.113+264C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:56:C,G:7:7:0:0:4,3:130,56:12.86,0.00:12.86,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:43.2,12.3:0,0:0,0:67,22:82,129:29,22:NM_014517.4(UBP1) c.113+264C>G,-:0.32,-:NOT_FOUND,- 3 33481341 . C . . NT END=33540122;NT GT ./. 3 33481400 rs2272153 G C 110 nt VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.6701,C/0.3299;PC=1.000;Gene=UBP1/NM_001128160.1/0;CC=c.-60C>G;VC=5UTR;Gene=UBP1/NM_014517.4/0;CC=c.-60C>G;VC=5UTR;Gene=UBP1/NM_001128161.1/1;CC=c.-60C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:76:19:0:0:36,40:1158,1329:110.10,0.00:11.18,0.00:98.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,4.6:0,0:0,0:103,106:47,44:33,33:NM_014517.4(UBP1) c.-60C>G,-:0.32,-:NOT_FOUND,- 3 33540210 . C . . NT END=33543143;NT GT ./. 3 33540329 rs6782108 T C 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6677,C/0.3323;PC=0.103;Gene=CLASP2/NM_001207044.1/0;CC=c.3799-120A>G;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.4462-120A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:C,T:18:0:0:0:12,6:343,186:34.97,0.00:0.00,0.00:34.97,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:36.6,5.5:0,0:0,0:104,112:47,38:19,19:NM_015097.2(CLASP2) c.4462-120A>G,-:0.36,-:NOT_FOUND,- 3 33543261 . C . . NT END=33552049;NT GT ./. 3 33551821 rs2049282 G T 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6905,T/0.3095;PC=0.004;Gene=CLASP2/NM_001207044.1/0;CC=c.3681+229C>A;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.4344+229C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:G,T:7:7:0:0:3,4:99,135:0.00,13.33:0.00,13.33:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:7.7,35.8:0,0:0,0:13,74:138,76:13,33:-,NM_015097.2(CLASP2) c.4344+229C>A:-,0.32:-,NOT_FOUND 3 33552004 rs2049281 T C 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.6587,C/0.3413;Gene=CLASP2/NM_001207044.1/0;CC=c.3681+46A>G;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.4344+46A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:27:0:0:10,20:319,623:28.37,0.00:19.61,0.00:8.76,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:33.2,5.8:0,0:0,0:62,33:89,117:40,29:NM_015097.2(CLASP2) c.4344+46A>G,-:0.35,-:0.27606,- 3 33552257 . C . . NT END=33557514;NT GT ./. 3 33552351 rs6767854 A T 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.6288,T/0.3712;Gene=CLASP2/NM_001207044.1/0;CC=c.3475-95T>A;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.4138-95T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:1:0:0:17,9:567,272:0.00,24.21:0.00,2.22:0.00,21.99:0.00,0.99:0.00,0.56:0.00,1.00:60,60:13.0,43.3:0,0:0,0:90,126:61,14:32,24:-,NM_015097.2(CLASP2) c.4138-95T>A:-,0.37:-,NOT_FOUND 3 33552522 rs397875429 AT A 13 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=CLASP2/NM_001207044.1/0;CC=c.3475-267delA;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.4138-267delA;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:AT,A:9:0:0:6:4,5:113,161:0.00,13.48:0.00,0.00:0.00,13.48:0.00,1.00:0.00,0.00:0.00,1.00:60,70:8.2,21.4:0,1:0,0:101,89:49,61:37,37:-,NM_015097.2(CLASP2) c.4138-267delA:-,NOT_FOUND:-,NOT_FOUND 3 33557644 . C . . NT END=33558472;NT GT ./. 3 33558359 rs1357542 C A 26 nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5843,A/0.4157;Gene=CLASP2/NM_001207044.1/0;CC=c.3345+114G>T;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.4008+114G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,C:12:12:0:0:8,4:252,118:25.71,0.00:25.71,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:64.2,9.8:0,0:0,0:25,32:125,117:7,13:NM_015097.2(CLASP2) c.4008+114G>T,-:0.44,-:NOT_FOUND,- 3 33558407 rs1357541 T C 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6048,C/0.3952;Gene=CLASP2/NM_001207044.1/0;CC=c.3345+66A>G;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.4008+66A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:10,13:345,411:32.43,0.00:28.84,0.00:3.59,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:53.3,2.4:0,0:0,0:56,35:94,116:18,18:NM_015097.2(CLASP2) c.4008+66A>G,-:0.42,-:NOT_FOUND,- 3 33558667 . C . . NT END=33576724;NT GT ./. 3 33558808 rs7635999 T C 40 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5773,C/0.4227;Gene=CLASP2/NM_001207044.1/0;CC=c.3152-142A>G;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.3815-142A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,T:18:0:0:0:12,6:395,181:40.25,0.00:0.00,0.00:40.25,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.3,22.8:0,0:0,0:115,112:34,38:21,26:NM_015097.2(CLASP2) c.3815-142A>G,-:0.45,-:NOT_FOUND,- 3 33576954 . C . . NT END=33580280;NT GT ./. 3 33577125 rs3772106 C T 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.7534,T/0.2466;PC=0.229;Gene=CLASP2/NM_001207044.1/0;CC=c.2923-172G>A;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.3586-172G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:C,T:10:0:0:0:5,5:176,162:0.00,15.57:0.00,0.00:0.00,15.57:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.4,40.4:0,0:0,0:56,104:95,47:25,19:-,NM_015097.2(CLASP2) c.3586-172G>A:-,0.28:-,NOT_FOUND 3 33580435 . C . . NT END=33584924;NT GT ./. 3 33585032 . C . . NT END=33586189;NT GT ./. 3 33586334 . C . . NT END=33592743;NT GT ./. 3 33586515 . C CT 8 rn VT=INS;SST=Single;DP=10;Gene=CLASP2/NM_001207044.1/0;CC=c.2518-183dupA;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.3181-183dupA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,CT,D:10:0:3:1:6,3,1:178,91,18:0.00,8.04,1.02:0.00,0.00,0.00:0.00,8.04,1.02:0.00,0.62,0.00:0.00,0.00,0.00:0.00,0.62,0.00:60,60,60:23.8,6.7,21.0:0,0,0:0,0,0:99,98,10:52,53,140:21,19,0:-,NM_015097.2(CLASP2) c.3181-183_3181-182insA:-,NOT_FOUND:-,NOT_FOUND 3 33592572 rs12487660 T G 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.742,G/0.258;Gene=CLASP2/NM_001207044.1/0;CC=c.2517+172A>C;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.3180+172A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:124:G,T:12:12:0:0:4,8:130,256:11.59,0.00:11.59,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:60,60:34.2,0.0:0,0:0,0:60,30:90,120:31,15:NM_015097.2(CLASP2) c.3180+172A>C,-:0.3,-:NOT_FOUND,- 3 33592888 . C . . NT END=33600798;NT GT ./. 3 33592978 rs537706667 A AT 30 sb,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.6897,AT/0.3103;DB;DBA=NA;PAF=A/0.6897,AT/0.3103;DB;DBA=NA;PAF=A/0.6897,AT/0.3103;NP=582;Gene=CLASP2/NM_001207044.1/0;CC=c.2374-92_2374-91insA;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.3037-92_3037-91insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:38:8:12:0:27,11:880,384:0.00,30.42:0.00,0.97:0.00,29.45:0.00,1.00:0.00,0.90:0.00,1.00:60,70:5.7,5.4:0,1:0,0:106,113:45,38:34,18:-,NM_015097.2(CLASP2) c.3037-92_3037-91insA:-,NOT_FOUND:-,NOT_FOUND 3 33600878 . C . . NT END=33602299;NT GT ./. 3 33602123 rs35779416 C T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7792,T/0.2208;Gene=CLASP2/NM_001207044.1/0;CC=c.2294+177G>A;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.2957+177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:11:11:0:0:8,3:249,101:0.00,8.73:0.00,8.73:0.00,0.00:0.00,0.60:0.00,0.60:0.00,0.00:60,60:11.6,33.7:0,0:0,0:30,31:119,120:16,13:-,NM_015097.2(CLASP2) c.2957+177G>A:-,0.26:-,NOT_FOUND 3 33602464 . C . . NT END=33612198;NT GT ./. 3 33612202 . T . . NT END=33612218;NT GT ./. 3 33612283 . C . . NT END=33614601;NT GT ./. 3 33612364 rs67476972 TA T 25 idl,rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=TA/0.1859,T/0.8141;DB;DBA=NA;PAF=TA/0.1859,T/0.8141;NP=55;PC=0.783;Gene=CLASP2/NM_001207044.1/0;CC=c.2064-83delT;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.2727-83delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:16:6:0:10:8,8:225,312:0.00,24.66:0.00,2.84:0.00,21.82:0.00,0.99:0.00,0.96:0.00,1.00:60,60:30.9,34.9:0,2:0,0:145,118:5,32:2,7:-,NM_015097.2(CLASP2) c.2727-83delT:-,NOT_FOUND:-,NOT_FOUND 3 33614847 . C . . NT END=33615964;NT GT ./. 3 33615874 rs9841413 G A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6422,A/0.3578;PC=0.001;Gene=CLASP2/NM_001207044.1/0;CC=c.1819-1028C>T;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.2481+91C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:A,G:6:6:0:0:4,2:98,71:9.97,0.00:10.21,0.00:-0.24,0.00:0.93,0.00:0.93,0.00:0.78,0.00:60,60:29.5,16.5:0,0:0,0:35,61:115,75:19,60:NM_015097.2(CLASP2) c.2481+91C>T,-:0.36,-:NOT_FOUND,- 3 33615989 . C . . NT END=33617660;NT GT ./. 3 33617768 . C . . NT END=33618693;NT GT ./. 3 33617790 rs4629282 A G 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.7837,G/0.2163;PC=0.982;Gene=CLASP2/NM_001207044.1/0;CC=c.1712-23T>C;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.2351-23T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:17:0:0:22,20:708,682:0.00,65.12:0.00,16.92:0.00,48.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,35.5:0,0:0,0:111,92:39,57:25,27:-,NM_015097.2(CLASP2) c.2351-23T>C:-,0.24:-,0.135725 3 33618551 rs397818810 G GA 19 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.005391,GA/0.9946;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.005391,GA/0.9946;DB;DBA=NA;PAF=G/0.005391,GA/0.9946;NP=186;Gene=CLASP2/NM_001207044.1/0;CC=c.1711+142dupT;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.2351-785dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GA:5:5:5:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:10.2:0:0:83:68:44:NM_015097.2(CLASP2) c.2351-785_2351-784insT,NM_015097.2(CLASP2) c.2351-785_2351-784insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 33618757 . C . . NT END=33623312;NT GT ./. 3 33623421 . C . . NT END=33626241;NT GT ./. 3 33626186 . G GA 31 idl,rn VT=INS;SST=Single;DP=56;NP=2;PC=0.033;Gene=CLASP2/NM_001207044.1/0;CC=c.1540+55dupT;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.2242+55dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA,D:52:49:12:7:4,33,11,4:88,1060,397,218:5.17,0.00,30.74,9.56:-0.96,0.00,31.02,9.66:6.13,0.00,-0.28,-0.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.81,0.00:60,60,60,60:37.0,23.0,16.7,26.8:0,0,1,3:0,0,0,0:16,51,43,46:128,78,107,105:14,31,18,28:-,NM_015097.2(CLASP2) c.2242+55_2242+56insT:-,NOT_FOUND:-,NOT_FOUND 3 33626219 rs371484858 TA T 26 sb;idl,rn VT=DEL;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=54;PC=0.001;Gene=CLASP2/NM_001207044.1/0;CC=c.1540+22delT;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.2242+22delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:66:58:3:15:2,51,2,11:18,1335,94,461:-0.24,0.00,3.63,26.45:-0.42,0.00,2.87,25.18:0.18,0.00,0.76,1.28:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,60:47.0,25.1,67.5,28.7:0,1,1,4:0,0,0,0:33,60,24,69:116,83,126,80:0,35,20,12:-,NM_015097.2(CLASP2) c.2242+22delT:-,NOT_FOUND:-,NOT_FOUND 3 33626413 . C . . NT END=33633886;NT GT ./. 3 33633989 . C . . NT END=33636442;NT GT ./. 3 33636461 . C . . NT END=33638202;NT GT ./. 3 33638227 . C . . NT END=33644443;NT GT ./. 3 33644618 . C . . NT END=33645645;NT GT ./. 3 33645702 . C . . NT END=33648082;NT GT ./. 3 33645812 rs199958865 CT C 11 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=4;Gene=CLASP2/NM_001207044.1/0;CC=c.996-112delA;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.1698-112delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,CT,G,I,C:14:1:1:5:1,7,1,1,4:9,197,13,33,156:0.16,0.00,0.47,2.39,10.98:0.00,0.00,0.68,0.00,0.00:0.16,0.00,-0.21,2.39,10.98:0.00,0.00,0.00,0.00,0.76:0.00,0.00,0.00,0.00,0.51:0.00,0.00,0.00,0.00,0.97:60,60,60,60,60:96.0,4.3,22.0,0.0,5.5:0,0,0,0,1:0,0,0,0,0:127,137,141,59,119:8,12,10,92,32:0,5,0,0,14:-,NM_015097.2(CLASP2) c.1698-112delA:-,NOT_FOUND:-,NOT_FOUND 3 33648251 . C . . NT END=33648875;NT GT ./. 3 33648954 . C . . NT END=33650058;NT GT ./. 3 33650119 . C . . NT END=33653492;NT GT ./. 3 33653564 . C . . NT END=33661094;NT GT ./. 3 33653622 rs6807542 T G 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7484,G/0.2516;PC=0.001;Gene=CLASP2/NM_001207044.1/0;CC=c.619-59A>C;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.1321-59A>C;VC=Intron;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:G,T:15:6:0:0:5,10:169,337:15.14,0.00:5.09,0.00:10.05,0.00:0.89,0.00:0.89,0.00:0.89,0.00:60,60:33.8,0.0:0,0:0,0:121,112:30,38:28,11:NM_015097.2(CLASP2) c.1321-59A>C,-:0.3,-:0.25668,- 3 33661231 . C . . NT END=33663626;NT GT ./. 3 33663773 . C . . NT END=33668479;NT GT ./. 3 33668573 . C . . NT END=33673783;NT GT ./. 3 33668662 rs72499357 ATTAAGT A 36 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=ATTAAGT/0.7486,A/0.2514;DB;DBA=NA;PAF=ATTAAGT/0.7486,A/0.2514;NP=370;Gene=CLASP2/NM_001207044.1/0;CC=c.244-96_244-91delACTTAA;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.946-96_946-91delACTTAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATTAAGT,A:20:2:0:12:8,12:254,365:0.00,36.37:0.00,-0.60:0.00,36.97:0.00,1.00:0.00,0.87:0.00,1.00:60,60:0.0,13.4:0,0:0,0:139,109:10,42:10,12:-,NM_015097.2(CLASP2) c.946-96_946-91delACTTAA:-,0.29:-,NOT_FOUND 3 33673867 . C . . NT END=33686248;NT GT ./. 3 33674094 rs76756250 GT G 13 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=GT/0.7879,G/0.2121;NP=17;PC=0.001;Gene=CLASP2/NM_001207044.1/0;CC=c.164-232delA;VC=Intron;Gene=CLASP2/NM_015097.2/1;CC=c.863-229delA;VC=Intron;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GT,G:5:0:0:4:1,4:35,121:0.00,12.92:0.00,0.00:0.00,12.92:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,8.5:0,0:0,0:26,128:125,22:0,5:-,NM_015097.2(CLASP2) c.863-229delA:-,0.23:-,NOT_FOUND 3 33686396 . C . . NT END=33700465;NT GT ./. 3 33700934 . C . . NT END=33704936;NT GT ./. 3 33705008 . C . . NT END=33725850;NT GT ./. 3 33725727 rs7628519 G T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.7616,T/0.2384;PC=0.355;Gene=CLASP2/NM_015097.2/1;CC=c.644+124C>A;VC=Intron;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:G,T:11:11:0:0:6,5:202,147:0.00,13.79:0.00,13.79:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:2.0,41.6:0,0:0,0:65,10:85,141:28,7:-,NM_015097.2(CLASP2) c.644+124C>A:-,0.28:-,NOT_FOUND 3 33725814 . G GA 16 rn VT=INS;SST=Single;DP=26;NP=1;Gene=CLASP2/NM_015097.2/1;CC=c.644+36dupT;VC=Intron;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:G,GA,D:25:23:6:2:18,6,1:550,192,55:0.00,16.20,0.88:0.00,13.56,-0.24:0.00,2.64,1.12:0.00,0.91,0.00:0.00,0.99,0.00:0.00,0.84,0.00:60,60,60:15.5,5.0,63.0:0,0,1:0,0,0:40,36,91:110,115,59:22,19,31:-,NM_015097.2(CLASP2) c.644+36_644+37insT:-,NOT_FOUND:-,NOT_FOUND 3 33725949 . C . . NT END=33728551;NT GT ./. 3 33728588 rs143967899 T C 36 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.9896,C/0.01038;PC=0.998;Gene=CLASP2/NM_015097.2/1;CC=c.510A>G;ProtCh=p.P170=;VC=Silent;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N;DM=CLASP2/CLASP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:20:0:0:13,17:392,519:36.45,0.00:22.58,0.00:13.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,8.8:0,0:0,0:66,72:84,79:37,31:NM_015097.2(CLASP2) c.510A>G (p.(=)),-:0.02,-:0.015551,- 3 33728628 . C . . NT END=33729768;NT GT ./. 3 33729861 . C . . NT END=33731320;NT GT ./. 3 33731425 . C . . NT END=33738346;NT GT ./. 3 33738426 . C . . NT END=33759299;NT GT ./. 3 33759495 . G . . NT END=33840220;NT GT ./. 3 33840114 rs1141054 T C 68 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.5627,C/0.4373;PC=0.918;Gene=PDCD6IP/NM_001256192.1/0;CC=c.-107T>C;VC=5UTR;Gene=PDCD6IP/NM_001162429.2/1;CC=c.-107T>C;VC=5UTR;Gene=PDCD6IP/NM_013374.5/0;CC=c.-107T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:42:0:0:22,20:700,699:67.87,0.00:66.65,0.00:1.22,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:39.2,2.8:0,0:0,0:53,39:98,112:30,31:NM_001162429.2(PDCD6IP) c.-107T>C,-:0.39,-:NOT_FOUND,- 3 33840430 . G . . NT END=33853563;NT GT ./. 3 33853619 . G . . NT END=33855050;NT GT ./. 3 33853747 rs9851801 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6735,T/0.3265;Gene=PDCD6IP/NM_001256192.1/0;CC=c.264+129C>T;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.264+129C>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.264+129C>T;VC=Intron;DM=PDCD6IP/BRO1;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,T:12:1:0:0:8,4:220,119:0.00,10.50:0.00,-0.18:0.00,10.68:0.00,0.80:0.00,0.56:0.00,0.98:60,60:0.9,29.8:0,0:0,0:119,89:30,60:23,13:-,NM_001162429.2(PDCD6IP) c.264+129C>T:-,0.31:-,NOT_FOUND 3 33853764 rs150795546 GAAGA G 13 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=GAAGA/0.7861,G/0.2139;DB;DBA=NA;PAF=GAAGA/0.7861,G/0.2139;NP=203;PC=0.081;Gene=PDCD6IP/NM_001256192.1/0;CC=c.264+152_264+155delAGAA;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.264+152_264+155delAGAA;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.264+152_264+155delAGAA;VC=Intron;DM=PDCD6IP/BRO1;DM=PDCD6IP/BRO1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:GAAGA,G:9:0:0:4:5,4:171,134:0.00,12.62:0.00,0.00:0.00,12.62:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,29.8:0,0:0,0:125,106:24,43:18,13:-,NM_001162429.2(PDCD6IP) c.264+147_264+150delAAGA:-,0.2:-,NOT_FOUND 3 33855121 . G . . NT END=33863446;NT GT ./. 3 33863235 rs13434046 C T 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5703,T/0.4297;PC=0.446;Gene=PDCD6IP/NM_001256192.1/0;CC=c.335-212C>T;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.335-212C>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.335-212C>T;VC=Intron;DM=PDCD6IP/BRO1;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:C,T:10:10:0:0:5,5:174,139:0.00,13.24:0.00,13.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.6,33.8:0,0:0,0:55,26:96,125:18,15:-,NM_001162429.2(PDCD6IP) c.335-212C>T:-,0.39:-,NOT_FOUND 3 33863369 rs72619958 C T 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.7861,T/0.2139;Gene=PDCD6IP/NM_001256192.1/0;CC=c.335-78C>T;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.335-78C>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.335-78C>T;VC=Intron;DM=PDCD6IP/BRO1;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:36:0:0:17,25:583,717:0.00,71.21:0.00,60.20:0.00,11.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,47.1:0,0:0,0:24,39:123,106:13,30:-,NM_001162429.2(PDCD6IP) c.335-78C>T:-,0.21:-,NOT_FOUND 3 33863575 . G . . NT END=33866678;NT GT ./. 3 33863683 rs3762817 A T 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.6705,T/0.3295;Gene=PDCD6IP/NM_001256192.1/0;CC=c.462+109A>T;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.462+109A>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.462+109A>T;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:38:1:0:0:17,21:516,646:0.00,63.29:0.00,1.81:0.00,61.48:0.00,1.00:0.00,0.70:0.00,1.00:60,60:0.6,81.8:0,0:0,0:129,113:22,38:18,22:-,NM_001162429.2(PDCD6IP) c.462+109A>T:-,0.31:-,NOT_FOUND 3 33863705 rs3762816 G C 52 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.7057,C/0.2943;PC=0.771;Gene=PDCD6IP/NM_001256192.1/0;CC=c.462+131G>C;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.462+131G>C;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.462+131G>C;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:24:1:0:0:16,8:509,274:51.89,0.00:1.90,0.00:49.98,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:99.9,0.0:0,0:0,0:118,119:33,30:20,14:NM_001162429.2(PDCD6IP) c.462+131G>C,-:0.28,-:NOT_FOUND,- 3 33863723 rs3762815 A G 32 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6709,G/0.3291;PC=0.003;Gene=PDCD6IP/NM_001256192.1/0;CC=c.462+149A>G;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.462+149A>G;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.462+149A>G;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:0:0:0:7,10:198,320:0.00,31.78:0.00,0.00:0.00,31.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:18.0,114.0:0,0:0,0:134,121:16,29:12,11:-,NM_001162429.2(PDCD6IP) c.462+149A>G:-,0.31:-,NOT_FOUND 3 33866833 . G . . NT END=33867971;NT GT ./. 3 33866868 rs12488699 A G 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6677,G/0.3323;PC=0.989;Gene=PDCD6IP/NM_001256192.1/0;CC=c.616+36A>G;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.616+36A>G;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.616+36A>G;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:17:0:0:22,11:722,373:0.00,33.43:0.00,9.29:0.00,24.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,54.4:0,0:0,0:110,128:30,23:19,21:-,NM_001162429.2(PDCD6IP) c.616+36A>G:-,0.31:-,0.276684 3 33866929 rs12495243 G T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.6707,T/0.3293;PC=0.078;Gene=PDCD6IP/NM_001256192.1/0;CC=c.616+97G>T;VC=Intron;Gene=PDCD6IP/NM_001162429.2/1;CC=c.616+97G>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.616+97G>T;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:15:4:0:0:8,7:263,204:0.00,19.21:0.00,6.91:0.00,12.31:0.00,0.99:0.00,0.92:0.00,1.00:60,60:4.9,64.1:0,0:0,0:111,119:39,32:24,21:-,NM_001162429.2(PDCD6IP) c.616+97G>T:-,0.31:-,NOT_FOUND 3 33868210 . GT G 17 idl,rn VT=DEL;SST=Single;DP=63;NP=3;Gene=PDCD6IP/NM_001256192.1/0;CC=c.*54delT;VC=3UTR;Gene=PDCD6IP/NM_001162429.2/1;CC=c.717+153delT;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.717+153delT;VC=Intron;DM=PDCD6IP/BRO1;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:GT,T,I,G:56:40:8:10:44,1,4,7:1386,12,254,316:0.00,-0.08,8.87,16.72:0.00,-0.16,1.89,9.94:0.00,0.08,6.98,6.78:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.95:60,60,60,60:22.4,70.0,20.8,35.0:0,0,4,3:0,0,0,0:93,15,28,69:58,105,114,81:43,0,17,34:-,NM_001162429.2(PDCD6IP) c.717+139delT:-,NOT_FOUND:-,NOT_FOUND 3 33868757 . G . . NT END=33870329;NT GT ./. 3 33868945 rs4258908 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7314,T/0.2686;Gene=PDCD6IP/NM_001162429.2/1;CC=c.717+873C>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.717+873C>T;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:C,T:9:0:0:0:5,4:166,132:0.00,12.42:0.00,0.00:0.00,12.42:0.00,0.85:0.00,0.00:0.00,0.85:60,60:5.6,45.0:0,0:0,0:130,124:21,26:14,10:-,NM_001162429.2(PDCD6IP) c.717+873C>T:-,0.26:-,NOT_FOUND 3 33870462 . G . . NT END=33877535;NT GT ./. 3 33872720 rs12631021 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6707,T/0.3293;Gene=PDCD6IP/NM_001162429.2/1;CC=c.849+2259C>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.834+2259C>T;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:C,T:4:3:0:0:2,2:49,67:0.00,6.46:0.00,3.23:0.00,3.22:0.00,0.51:0.00,0.89:0.00,0.89:60,60:0.0,44.0:0,0:0,0:73,96:77,47:16,5:-,NM_001162429.2(PDCD6IP) c.849+2259C>T:-,0.31:-,NOT_FOUND 3 33877508 rs3792595 T A 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.7867,A/0.2133;Gene=PDCD6IP/NM_001162429.2/1;CC=c.850-28T>A;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.835-28T>A;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:38:0:0:19,26:573,847:53.05,0.00:36.09,0.00:16.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.2,15.3:0,0:0,0:32,44:118,103:19,32:NM_001162429.2(PDCD6IP) c.850-28T>A,-:0.2,-:0.092587,- 3 33877626 rs3792594 G A 69 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.6727,A/0.3273;PC=0.998;Gene=PDCD6IP/NM_001162429.2/1;CC=c.940G>A;ProtCh=p.A314T;VC=Missense;Gene=PDCD6IP/NM_013374.5/0;CC=c.925G>A;ProtCh=p.A309T;VC=Missense;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:33:0:0:24,32:744,1069:69.26,0.00:26.13,0.00:43.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.5,6.0:0,0:0,0:89,73:46,71:34,31:NM_001162429.2(PDCD6IP) c.940G>A (p.Ala314Thr),-:0.34,-:0.275796,- 3 33877759 . G . . NT END=33879695;NT GT ./. 3 33879498 rs9832035 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6695,A/0.3305;Gene=PDCD6IP/NM_001162429.2/1;CC=c.1073-198G>A;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.1058-198G>A;VC=Intron;DM=PDCD6IP/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:100:A,G:7:7:0:0:3,4:102,97:9.60,0.00:9.60,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:34.0,19.2:0,0:0,0:25,42:126,108:1,20:NM_001162429.2(PDCD6IP) c.1073-198G>A,-:0.31,-:NOT_FOUND,- 3 33879602 rs78289090 CTA C 41 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CTA/0.7019,C/0.2981;DB;DBA=NA;PAF=CTA/0.7019,C/0.2981;NP=1066;Gene=PDCD6IP/NM_001162429.2/1;CC=c.1073-92_1073-91delAT;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.1058-92_1058-91delAT;VC=Intron;DM=PDCD6IP/BRO1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTA,C:23:21:0:13:10,13:309,421:0.00,41.47:0.00,37.15:0.00,4.32:0.00,1.00:0.00,1.00:0.00,0.98:60,60:7.7,7.0:0,0:0,0:66,51:84,100:51,29:-,NM_001162429.2(PDCD6IP) c.1073-93_1073-92delTA:-,0.28:-,NOT_FOUND 3 33879770 rs3203777 G A 45 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.7065,A/0.2935;PC=1.000;Gene=PDCD6IP/NM_001162429.2/1;CC=c.1147G>A;ProtCh=p.V383I;VC=Missense;Gene=PDCD6IP/NM_013374.5/0;CC=c.1132G>A;ProtCh=p.V378I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:37:0:0:16,37:519,1191:45.44,0.00:17.82,0.00:27.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,4.4:0,0:0,0:83,53:67,88:35,33:NM_001162429.2(PDCD6IP) c.1147G>A (p.Val383Ile),-:0.3,-:0.322082,- 3 33879820 . G . . NT END=33883388;NT GT ./. 3 33883567 . G . . NT END=33885603;NT GT ./. 3 33885716 . G . . NT END=33886910;NT GT ./. 3 33887081 . G . . NT END=33893979;NT GT ./. 3 33887102 rs11928792 A G 85 nt VT=SNV;PN=T;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.6695,G/0.3305;Gene=PDCD6IP/NM_001162429.2/1;CC=c.1656+22A>G;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.1641+22A>G;VC=Intron;DM=PDCD6IP/ALIX_LYPXL_bnd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:20:0:0:31,29:1037,892:0.00,84.94:0.00,22.41:0.00,62.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.1,51.1:0,0:0,0:83,84:68,66:35,30:-,NM_001162429.2(PDCD6IP) c.1656+22A>G:-,0.31:-,0.276026 3 33887178 rs11928817 A T 50 nt VT=SNV;PN=T;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.7857,T/0.2143;Gene=PDCD6IP/NM_001162429.2/1;CC=c.1656+98A>T;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.1641+98A>T;VC=Intron;DM=PDCD6IP/ALIX_LYPXL_bnd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:36:3:0:0:18,1,17:503,12,522:0.00,0.13,49.77:0.00,-0.01,1.50:0.00,0.14,48.28:0.00,0.00,1.00:0.00,0.00,0.86:0.00,0.00,1.00:60,60,60:21.7,44.0,63.1:0,0,0:0,0,0:92,27,105:54,124,46:27,0,28:-,NM_001162429.2(PDCD6IP) c.1656+98A>T:-,0.21:-,NOT_FOUND 3 33893929 rs59048229 C CT 22 idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.5353,CT/0.4647;DB;DBA=NA;PAF=C/0.5353,CT/0.4647,CTT/.,CTTT/.,CTTTT/.;DB;DBA=NA;PAF=C/0.5353,CT/0.4647,CTT/.;NP=11;NP=5;PC=0.001;Gene=PDCD6IP/NM_001162429.2/1;CC=c.1657-32dupT;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.1642-32dupT;VC=Intron;DM=PDCD6IP/ALIX_LYPXL_bnd;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,CT,D:40:34:12:2:26,1,2,9,2:714,12,45,356,66:0.00,0.04,2.39,22.45,4.35:0.00,-0.23,-0.46,9.67,3.21:0.00,0.27,2.85,12.78,1.15:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.97,0.00:60,60,60,60,60:37.9,12.0,46.5,91.6,76.5:0,0,1,3,0:0,0,0,0,0:98,1,38,37,33:20,106,106,112,114:20,0,1,18,1:-,NM_001162429.2(PDCD6IP) c.1657-51_1657-50insT:-,NOT_FOUND:-,NOT_FOUND 3 33894229 . G . . NT END=33895370;NT GT ./. 3 33895391 rs3183982 A G 40 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.6697,G/0.3303;Gene=PDCD6IP/NM_001162429.2/1;CC=c.1926A>G;ProtCh=p.S642=;VC=Silent;Gene=PDCD6IP/NM_013374.5/0;CC=c.1911A>G;ProtCh=p.S637=;VC=Silent;DM=PDCD6IP/ALIX_LYPXL_bnd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:40:0:0:34,16:1073,460:0.00,40.04:0.00,35.49:0.00,4.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,44.8:0,0:0,0:52,52:94,97:30,36:-,NM_001162429.2(PDCD6IP) c.1926A>G (p.(=)):-,0.26:-,0.254397 3 33895506 . G . . NT END=33896657;NT GT ./. 3 33896753 . G . . NT END=33905497;NT GT ./. 3 33905471 rs11922311 A G 57 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.7855,G/0.2145;PC=0.203;Gene=PDCD6IP/NM_001162429.2/1;CC=c.2136-27A>G;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.2121-27A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:35:0:0:19,18:589,600:0.00,57.46:0.00,47.57:0.00,9.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.5,56.1:0,0:0,0:35,52:116,98:13,22:-,NM_001162429.2(PDCD6IP) c.2136-27A>G:-,0.21:-,0.103106 3 33905566 rs1127732 C T 74 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.7522,T/0.2478;PC=0.406;Gene=PDCD6IP/NM_001162429.2/1;CC=c.2204C>T;ProtCh=p.S735L;VC=Missense;Gene=PDCD6IP/NM_013374.5/0;CC=c.2189C>T;ProtCh=p.S730L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:32:0:0:27,25:897,775:0.00,73.76:0.00,27.54:0.00,46.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,53.5:0,0:0,0:92,80:58,70:29,38:-,NM_001162429.2(PDCD6IP) c.2204C>T (p.Ser735Leu):-,0.23:-,0.154237 3 33905622 . g . . NT END=33906734;NT GT ./. 3 33906923 . G . . NT END=33907842;NT GT ./. 3 33907835 rs79430540 T TCTCC 37 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1535;PC=0.002;Gene=PDCD6IP/NM_001162429.2/1;CC=c.2448-6_2448-5insCCCT;VC=Intron;Gene=PDCD6IP/NM_013374.5/0;CC=c.2433-6_2433-5insCCCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TCTCC:46:43:13:0:1,32,13:10,997,423:-0.11,0.00,36.76:-0.02,0.00,32.02:-0.09,0.00,4.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:64.0,12.3,9.0:0,0,0:0,0,0:59,74,62:89,70,84:0,29,23:-,NM_001162429.2(PDCD6IP) c.2448-8_2448-7insCTCC:-,NOT_FOUND:-,0.261422 3 33907945 rs3183987 A G 68 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.6695,C/.,G/0.3305;Gene=PDCD6IP/NM_001162429.2/1;CC=c.2550A>G;ProtCh=p.P850=;VC=Silent;Gene=PDCD6IP/NM_013374.5/0;CC=c.2535A>G;ProtCh=p.P845=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:60:37:0:0:36,24:1140,745:0.00,68.34:0.00,35.47:0.00,32.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.6,47.8:0,0:0,0:61,53:88,84:39,31:-,NM_001162429.2(PDCD6IP) c.2550A>G (p.(=)):-,0.31:-,0.276411 3 33908018 . T . . NT END=35723243;NT GT ./. 3 34116178 rs61275177 G C 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:53:C,G:5:2:0:2:3,2:89,55:8.87,0.00:3.36,0.00:5.51,0.00:0.78,0.00:0.87,0.00:0.94,0.00:60,60:122.3,32.0:0,0:0,0:100,88:46,43:6,8:chr3 g.34116177G>C (intergenic),-:0.17,-:NOT_FOUND,- 3 34116180 rs62247652 G C 8 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=44;PC=0.016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:C,G:5:2:0:2:3,2:84,69:8.37,0.00:3.36,0.00:5.01,0.00:0.78,0.00:0.87,0.00:0.94,0.00:60,60:122.3,32.0:0,0:0,0:102,90:44,41:6,8:chr3 g.34116179G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 34116182 rs62247653 G C 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=13;PC=0.022 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,G:7:3:0:0:5,2:174,68:17.97,0.00:5.20,0.00:12.76,0.00:0.98,0.00:0.98,0.00:1.00,0.00:60,60:101.0,32.0:1,0:0,0:101,92:42,39:3,8:chr3 g.34116181G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 34289940 rs9812156 G TGTGT 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.149,T/0.851;NP=2;NP=94;PC=0.025;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:G,T,TGTGT:7:7:3:0:2,2,3:61,42,87:0.00,3.77,8.54:0.00,3.77,7.19:0.00,0.00,1.35:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.62:60,60,70:3.0,21.0,79.3:0,0,0:0,0,0:111,114,33:2,17,111:39,11,1:-,chr3 g.34289940delGinsTGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 34290036 rs7642509 A G 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6378,G/0.3622 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:5:2:0:0:1,4:34,131:0.00,13.92:0.00,3.53:0.00,10.39:0.00,0.96:0.00,0.97:0.00,0.96:60,60:0.0,44.2:0,0:0,0:71,109:80,29:0,7:-,chr3 g.34290035A>G (intergenic):-,0.36:-,NOT_FOUND 3 34303341 rs4678669 C T 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3139,T/0.6861;PC=0.009 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:C,T:8:5:0:0:4,4:134,119:0.00,11.40:0.00,5.95:0.00,5.45:0.00,0.87:0.00,0.96:0.00,0.73:60,60:5.8,64.2:0,0:0,0:86,57:64,94:22,34:-,chr3 g.34303340C>T (intergenic):-,0.71:-,NOT_FOUND 3 34303364 rs10552817 GCA G 13 idl,rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=33;PC=0.019;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:7:4:160:12.59:5.55:7.04:0.93:0.91:0.99:60:68.8:2:0:69:82:23:chr3 g.34303365_34303366delCA (intergenic),chr3 g.34303365_34303366delCA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 35049625 rs7634438 G A 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8872,A/0.1128;Gene=LOC101928135/NR_110817.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:6:5:0:0:3,3:101,103:9.72,0.00:6.60,0.00:3.12,0.00:0.73,0.00:0.96,0.00:0.51,0.00:60,60:44.3,14.7:0,0:0,0:17,87:134,59:7,35:chr3 g.35049624G>A (intergenic),-:0.13,-:NOT_FOUND,- 3 35049648 rs370069825 C CCACA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5723,CCACA/0.4277,CCACACA/.;NP=12;NP=18;NP=7;Gene=LOC101928135/NR_110817.1/0;VC=NonCoding;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,CCACA:5:5:4:0:2,3:38,136:0.00,10.15:0.00,7.00:0.00,3.14:0.00,0.73:0.00,0.96:0.00,0.51:60,60:0.0,58.3:0,1:0,0:129,77:19,74:19,2:-,chr3 g.35049648_35049649insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 35257958 rs28384178 C G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5473,G/0.4527;PC=1.000;Gene=LOC101928135/NR_110817.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,G:11:11:0:0:5,6:167,205:0.00,20.07:0.00,14.62:0.00,5.45:0.00,0.98:0.00,0.98:0.00,0.96:60,60:9.0,37.8:0,0:0,0:40,41:110,96:32,23:-,chr3 g.35257957C>G (intergenic):-,0.46:-,NOT_FOUND 3 35344286 . TCACA T 9 rn VT=DEL;SST=Single;DP=8;NP=10;Gene=LOC101928135/NR_110817.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:TCACA,I,T:8:8:1:4:4,1,3:111,32,98:0.00,2.54,9.15:0.00,2.60,7.63:0.00,-0.06,1.52:0.00,0.00,0.67:0.00,0.00,0.67:0.00,0.00,0.78:60,54,60:40.8,129.0,10.0:0,0,0:0,0,0:97,19,59:40,111,92:23,0,25:-,chr3 g.35344287_35344290delCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 35344374 rs62258679 A C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9806,C/0.01937;PC=0.551;Gene=LOC101928135/NR_110817.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,C:9:5:0:0:5,4:154,129:0.00,12.12:0.00,5.00:0.00,7.12:0.00,0.85:0.00,0.94:0.00,0.98:60,60:19.8,81.2:0,0:0,0:109,98:41,29:34,16:-,chr3 g.35344373A>C (intergenic):-,0.03:-,NOT_FOUND 3 35344380 rs111632464 G GGTCCT 9 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5156,GGTCCT/0.4844;PC=0.004;Gene=LOC101928135/NR_110817.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:G,GGTCCT:9:5:4:0:5,4:164,93:0.00,8.52:0.00,2.49:0.00,6.03:0.00,0.85:0.00,0.94:0.00,0.97:60,60:42.0,29.5:0,0:0,0:119,48:11,102:30,23:-,chr3 g.35344380_35344381insGTCCT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 35666702 rs67687320 AC A 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=381;PC=0.016;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:AC,A:4:3:0:3:1,3:11,65:0.00,6.94:0.00,2.59:0.00,4.35:0.00,0.85:0.00,0.99:0.00,0.99:60,60:112.0,70.0:0,0:0,0:74,57:77,94:0,25:-,chr3 g.35666703delC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 35723374 . T . . NT END=35724339;NT GT ./. 3 35724256 rs1513475 T C 31 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6288,C/0.3712;Gene=ARPP21/NM_001267616.1/0;CC=c.130-84T>C;VC=Intron;Gene=ARPP21/NM_001267617.1/0;CC=c.130-84T>C;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.130-84T>C;VC=Intron;Gene=ARPP21/NM_001267618.1/0;CC=c.130-84T>C;VC=Intron;Gene=ARPP21/NM_001025068.1/0;CC=c.130-84T>C;VC=Intron;Gene=ARPP21/NM_001025069.1/0;CC=c.130-84T>C;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.130-84T>C;VC=Intron;Gene=ARPP21/NM_198399.1/0;CC=c.130-84T>C;VC=Intron;DM=ARPP21/R3H;DM=ARPP21/R3H;DM=ARPP21/R3H GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:19:0:0:10,10:322,326:30.94,0.00:29.96,0.00:0.98,0.00:1.00,0.00:1.00,0.00:0.73,0.00:60,60:40.6,8.8:1,0:0,0:78,33:72,107:24,16:NM_001267619.1(ARPP21) c.130-84T>C,-:0.36,-:NOT_FOUND,- 3 35724383 . T . . NT END=35725217;NT GT ./. 3 35725250 rs969818 C T 60 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.2802,A/.,T/0.7198;PC=0.559;Gene=ARPP21/NM_001267616.1/0;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;Gene=ARPP21/NM_001267617.1/0;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;Gene=ARPP21/NM_016300.4/1;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;Gene=ARPP21/NM_001267618.1/0;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;Gene=ARPP21/NM_001025068.1/0;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;Gene=ARPP21/NM_001025069.1/0;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;Gene=ARPP21/NM_001267619.1/0;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;Gene=ARPP21/NM_198399.1/0;CC=c.204C>T;ProtCh=p.S68=;VC=Silent;DM=ARPP21/R3H GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:27:0:0:20,20:653,627:0.00,60.17:0.00,28.37:0.00,31.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.2,39.5:0,0:0,0:72,51:71,92:24,23:-,NM_001267619.1(ARPP21) c.204C>T (p.(=)):-,0.67:-,0.712627 3 35725309 . T . . NT END=35725512;NT GT ./. 3 35726748 rs3821447 A G 92 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.6871,G/0.3129;PC=0.001;Gene=ARPP21/NM_001267616.1/0;CC=c.*1227A>G;VC=3UTR;Gene=ARPP21/NM_001267617.1/0;CC=c.261+1441A>G;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.261+1441A>G;VC=Intron;Gene=ARPP21/NM_001267618.1/0;CC=c.*1227A>G;VC=3UTR;Gene=ARPP21/NM_001025068.1/0;CC=c.*1227A>G;VC=3UTR;Gene=ARPP21/NM_001025069.1/0;CC=c.*1227A>G;VC=3UTR;Gene=ARPP21/NM_001267619.1/0;CC=c.261+1441A>G;VC=Intron;Gene=ARPP21/NM_198399.1/0;CC=c.*1227A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:70:46:0:0:40,30:1321,988:0.00,92.33:0.00,48.62:0.00,43.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,39.5:0,0:0,0:81,76:64,71:31,41:-,NM_001267619.1(ARPP21) c.261+1441A>G:-,0.32:-,NOT_FOUND 3 35727380 . C . . NT END=35729230;NT GT ./. 3 35729377 . T . . NT END=35730798;NT GT ./. 3 35730879 . T . . NT END=35731572;NT GT ./. 3 35731634 . T . . NT END=35732356;NT GT ./. 3 35731725 rs1513476 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.1649,T/0.8351;PC=0.010;Gene=ARPP21/NM_001267617.1/0;CC=c.545+93C>T;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.545+93C>T;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.545+93C>T;VC=Intron;DM=ARPP21/R3H GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:146:C,T:11:2:0:0:5,6:142,195:0.00,19.08:0.00,3.28:0.00,15.80:0.00,0.98:0.00,0.83:0.00,1.00:60,60:25.6,34.2:0,0:0,0:63,110:87,40:27,12:-,NM_001267619.1(ARPP21) c.545+93C>T:-,0.8:-,NOT_FOUND 3 35732499 . T . . NT END=35748465;NT GT ./. 3 35748576 . T . . NT END=35750460;NT GT ./. 3 35750563 . G . . NT END=35756930;NT GT ./. 3 35752034 . AACAC A 13 sb,rn VT=DEL;SST=Single;DP=6;NP=8;Gene=ARPP21/NM_001267617.1/0;CC=c.795+3502_795+3505delCACA;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.897+1514_897+1517delCACA;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.795+3502_795+3505delCACA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:AACAC,A:6:6:0:4:2,4:45,132:0.00,13.47:0.00,11.80:0.00,1.67:0.00,0.93:0.00,0.93:0.00,0.91:60,60:0.0,8.2:0,0:0,0:119,31:31,119:8,15:-,NM_001267619.1(ARPP21) c.795+3461_795+3464delACAC:-,NOT_FOUND:-,NOT_FOUND 3 35754053 rs78710829 T A 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5857,A/0.4143;Gene=ARPP21/NM_001267617.1/0;CC=c.796-2878T>A;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.898-2878T>A;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.796-2878T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,T:5:2:0:0:3,2:107,68:10.67,0.00:1.73,0.00:8.94,0.00:0.78,0.00:0.87,0.00:0.78,0.00:60,60:39.0,10.5:0,0:0,0:46,90:74,19:3,36:NM_001267619.1(ARPP21) c.796-2878T>A,-:0.39,-:NOT_FOUND,- 3 35756778 rs2305233 A T 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.4603,T/0.5397;PC=0.001;Gene=ARPP21/NM_001267617.1/0;CC=c.796-153A>T;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.898-153A>T;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.796-153A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,T:11:11:0:0:4,7:136,242:0.00,24.41:0.00,24.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.2,34.6:0,0:0,0:47,59:104,90:5,33:-,NM_001267619.1(ARPP21) c.796-153A>T:-,0.55:-,NOT_FOUND 3 35756970 . T . . NT END=35758789;NT GT ./. 3 35758851 . T . . NT END=35763096;NT GT ./. 3 35763328 . T . . NT END=35770794;NT GT ./. 3 35771030 . T . . NT END=35778669;NT GT ./. 3 35778773 rs2278757 A G 199 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=A/0.5919,G/0.4081,T/.;PC=1.000;Gene=ARPP21/NM_001267617.1/0;CC=c.1401A>G;ProtCh=p.P467=;VC=Silent;Gene=ARPP21/NM_016300.4/1;CC=c.1563A>G;ProtCh=p.P521=;VC=Silent;Gene=ARPP21/NM_001267619.1/0;CC=c.1461A>G;ProtCh=p.P487=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:144:102:0:0:77,1,66:2419,9,2107:0.00,-0.18,199.18:0.00,-0.13,86.92:0.00,-0.05,112.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.8,110.0,45.0:0,0,0:0,0,0:68,94,64:76,56,85:35,0,36:-,NM_001267619.1(ARPP21) c.1461A>G (p.(=)):-,0.42:-,0.506618 3 35778856 . T . . NT END=35779705;NT GT ./. 3 35778908 rs11927763 A G 93 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.8892,G/0.1108;Gene=ARPP21/NM_001267617.1/0;CC=c.1482+54A>G;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.1644+54A>G;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.1542+54A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:74:21:0:0:43,30,1:1347,1005,10:0.00,93.37,-0.13:0.00,17.19,-0.04:0.00,76.18,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.7,46.5,58.0:0,0,0:0,0,0:113,110,115:37,32,36:22,19,0:-,NM_001267619.1(ARPP21) c.1542+54A>G:-,0.13:-,NOT_FOUND 3 35779750 rs2012153 A G 39 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.6412,G/0.3588;PC=0.564;Gene=ARPP21/NM_001267617.1/0;CC=c.1527A>G;ProtCh=p.P509=;VC=Silent;Gene=ARPP21/NM_016300.4/1;CC=c.1644+896A>G;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.1587A>G;ProtCh=p.P529=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:33:20:0:0:18,1,14:608,12,422:0.00,0.12,39.31:0.00,-0.11,13.60:0.00,0.24,25.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.1,152.0,42.6:0,0,0:0,0,0:75,58,81:76,78,65:28,0,12:-,NM_001267619.1(ARPP21) c.1587A>G (p.(=)):-,0.36:-,NOT_FOUND 3 35779812 . T . . NT END=35780808;NT GT ./. 3 35780734 rs876159 G T 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.8976,T/0.1024;Gene=ARPP21/NM_001267617.1/0;CC=c.1588-75G>T;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.1645-75G>T;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.1648-75G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:39:0:0:19,23:637,722:0.00,70.61:0.00,51.84:0.00,18.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,52.9:0,0:0,0:34,53:116,98:19,34:-,NM_001267619.1(ARPP21) c.1648-75G>T:-,0.12:-,NOT_FOUND 3 35781071 . T . . NT END=35785330;NT GT ./. 3 35785206 rs11712442 G C 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8976,C/0.1024;Gene=ARPP21/NM_001267617.1/0;CC=c.1849-125G>C;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.1906-125G>C;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.1909-125G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:20:0:0:8,12:264,419:24.37,0.00:24.48,0.00:-0.11,0.00:0.99,0.00:0.99,0.00:0.60,0.00:60,60:48.9,11.4:0,0:0,0:93,34:56,116:41,15:NM_001267619.1(ARPP21) c.1909-125G>C,-:0.12,-:NOT_FOUND,- 3 35785296 rs6550367 T C 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.6052,C/0.3948;Gene=ARPP21/NM_001267617.1/0;CC=c.1849-35T>C;VC=Intron;Gene=ARPP21/NM_016300.4/1;CC=c.1906-35T>C;VC=Intron;Gene=ARPP21/NM_001267619.1/0;CC=c.1909-35T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:61:0:0:34,34:1156,1041:111.39,0.00:92.38,0.00:19.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,13.1:0,0:0,0:33,42:116,103:19,25:NM_001267619.1(ARPP21) c.1909-35T>C,-:0.4,-:0.502845,- 3 35785459 . T . . NT END=35833873;NT GT ./. 3 35834024 . T . . NT END=35835192;NT GT ./. 3 35835452 . A . . NT END=36422135;NT GT ./. 3 35989227 rs62708660 CTGTGTGTG C 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=83;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CTGTGTGTG,C:5:4:0:3:2,3:67,89:0.00,8.87:0.00,2.96:0.00,5.91:0.00,0.78:0.00,0.97:0.00,0.97:60,70:0.0,13.3:0,0:0,0:120,45:15,105:23,0:-,chr3 g.35989228_35989235delTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 36099344 rs397699993 T TACAC 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.5172,TACAC/0.4828;DB;DBA=NA;PAF=NA;NP=142;NP=2;NP=2;PC=0.063;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TACAC:2:4:4:0:2:138:7.25:3.63:3.63:0.51:0.51:0.79:60:11.5:2:0:58:82:2:chr3 g.36099344_36099345insACAC (intergenic),chr3 g.36099344_36099345insACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 36422247 . G . . NT END=36484855;NT GT ./. 3 36422403 rs62245718 T G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.9445,G/0.05551;Gene=STAC/NM_001292049.1/0;CC=c.111+157T>G;VC=Intron;Gene=STAC/NM_003149.2/1;CC=c.111+157T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:15:0:0:0:8,7:262,203:25.52,0.00:0.00,0.00:25.52,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:45.5,17.6:0,0:0,0:120,106:29,44:12,42:NM_003149.1(STAC) c.111+157T>G,-:0.04,-:NOT_FOUND,- 3 36484746 rs9865125 G T 150 nt VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.00639,T/0.9936;Gene=STAC/NM_001292049.1/0;CC=c.112-110G>T;VC=Intron;Gene=STAC/NM_003149.2/1;CC=c.112-110G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:T:40:40:0:0:40:1312:150.20:144.29:5.92:1.00:1.00:1.00:60:46.1:0:0:42:108:27:NM_003149.1(STAC) c.112-110G>T,NM_003149.1(STAC) c.112-110G>T:0.99,0.99:NOT_FOUND,NOT_FOUND 3 36485133 . G . . NT END=36524483;NT GT ./. 3 36524585 . G . . NT END=36526468;NT GT ./. 3 36526551 . G . . NT END=36527625;NT GT ./. 3 36527742 . G . . NT END=36534642;NT GT ./. 3 36534722 . G . . NT END=36545884;NT GT ./. 3 36545950 . G . . NT END=36547237;NT GT ./. 3 36547327 . G . . NT END=36570187;NT GT ./. 3 36570240 . G . . NT END=36570339;NT GT ./. 3 36570478 . G . . NT END=36587682;NT GT ./. 3 36587541 rs9878872 C G 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5711,G/0.4289;Gene=STAC/NM_001292049.1/0;CC=c.928-142C>G;VC=Intron;Gene=STAC/NM_003149.2/1;CC=c.1111-142C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:330:38.21:38.21:0.00:1.00:1.00:0.00:60:40.7:0:0:69:82:18:NM_003149.1(STAC) c.1111-142C>G,NM_003149.1(STAC) c.1111-142C>G:0.47,0.47:NOT_FOUND,NOT_FOUND 3 36587782 . T . . NT END=36756818;NT GT ./. 3 36757013 . C . . NT END=36759500;NT GT ./. 3 36759669 . C . . NT END=36763017;NT GT ./. 3 36762771 rs3034440 AAC A,AACAC 17 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=181;PC=0.004;DM=DCLK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:22:AAC,AACAC,A:9:9:5:2:2,5,2:43,167,65:0.00,17.12,5.93:0.00,15.31,5.93:0.00,1.81,0.00:0.00,0.96,0.00:0.00,0.96,0.00:0.00,0.70,0.00:60,60,60:26.5,0.0,0.0:0,0,0:0,0,0:91,25,14:47,126,136:51,11,2:NM_033403.1(DCLK3) c.1585+245_1585+246delGT,NM_033403.1(DCLK3) c.1585+246_1585+247insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 36763151 . C . . NT END=36778698;NT GT ./. 3 36771682 . TATAC T 6 nt VT=DEL;SST=Single;DP=5;NP=1;Gene=DCLK3/NM_033403.1/1;CC=c.1452+7013_1452+7016delGTAT;VC=Intron;DM=DCLK3/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:TATAC,T:5:3:0:2:3,2:62,68:0.00,6.31:0.00,3.37:0.00,2.94:0.00,0.46:0.00,0.80:0.00,0.46:60,60:37.0,0.0:1,0:0,0:27,87:97,63:13,1:-,NM_033403.1(DCLK3) c.1452+7013_1452+7016delGTAT:-,NOT_FOUND:-,NOT_FOUND 3 36779707 rs3796187 G A 386 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=252;DB;DBA=NA;PAF=G/0.754,A/0.246;PC=0.015;Gene=DCLK3/NM_033403.1/1;CC=c.444C>T;ProtCh=p.L148=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:252:174:0:0:128,1,123:4010,8,3834:386.50,-0.19,0.00:235.49,-0.09,0.00:151.00,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,168.0,11.2:0,0,0:0,0,0:60,131,73:91,20,77:38,0,38:NM_033403.1(DCLK3) c.444C>T (p.(=)),-:0.28,-:0.337572,- 3 36780151 . A . . NT END=36869765;NT GT ./. 3 36809119 rs9311135 G A 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.4199,A/0.5801;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:14:0:0:13,15:419,506:39.69,0.00:20.82,0.00:18.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.8,0.0:0,0:0,0:55,88:95,60:32,31:chr3 g.36809118G>A (intergenic),-:0.58,-:NOT_FOUND,- 3 36810030 rs6550432 G A 46 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1719,A/0.8281;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:5:0:0:13:398:45.95:12.67:33.28:1.00:1.00:1.00:60:32.1:0:0:129:21:10:chr3 g.36810029G>A (intergenic),chr3 g.36810029G>A (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 3 36866419 rs71635812 A AGT 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=1;NP=30;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:A,AGT:5:5:4:0:1,4:27,125:0.00,13.32:0.00,8.10:0.00,5.22:0.00,0.96:0.00,0.96:0.00,0.99:60,60:9.0,39.0:0,0:0,0:75,31:34,93:0,19:-,chr3 g.36866419_36866420insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 36869867 . C . . NT END=36871054;NT GT ./. 3 36871154 . C . . NT END=36872363;NT GT ./. 3 36875411 . C . . NT END=36876252;NT GT ./. 3 36876399 . C . . NT END=36879862;NT GT ./. 3 36879605 rs11129736 A G 39 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7867,G/0.2133;PC=0.021;Gene=TRANK1/NM_014831.2/1;CC=c.5385+258T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:A,G:12:12:0:0:1,11:10,355:0.00,39.37:0.00,39.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:159.0,39.3:0,0:0,0:18,30:133,121:0,20:NM_014831.2(TRANK1) c.5385+258T>C,NM_014831.2(TRANK1) c.5385+258T>C:0.24,0.24:NOT_FOUND,NOT_FOUND 3 36879996 . C . . NT END=36880103;NT GT ./. 3 36880208 . C . . NT END=36884112;NT GT ./. 3 36884202 . C . . NT END=36887738;NT GT ./. 3 36887896 . C . . NT END=36888690;NT GT ./. 3 36888575 rs12497299 C T 54 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.719,T/0.281;Gene=TRANK1/NM_014831.2/1;CC=c.4902+116G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C,T:16:16:0:0:1,15:12,488:0.00,54.45:0.00,52.48:0.00,1.97:0.00,1.00:0.00,1.00:0.00,0.96:60,60:209.0,55.1:0,0:0,0:53,72:98,78:0,27:NM_014831.2(TRANK1) c.4902+116G>A,NM_014831.2(TRANK1) c.4902+116G>A:0.31,0.31:NOT_FOUND,NOT_FOUND 3 36888838 . C . . NT END=36891527;NT GT ./. 3 36891613 . C . . NT END=36891644;NT GT ./. 3 36891615 rs11712098 T G 569 nt VT=SNV;PN=T;NN=A;SST=Single;DP=146;DB;DBA=NA;PAF=T/0.6865,G/0.3135;PC=0.951;Gene=TRANK1/NM_014831.2/1;CC=c.4755+1595A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:146:103:0:0:146:4992:568.82:295.35:273.47:1.00:1.00:1.00:60:43.2:0:0:83:59:30:NM_014831.2(TRANK1) c.4755+1595A>C,NM_014831.2(TRANK1) c.4755+1595A>C:0.33,0.33:NOT_FOUND,NOT_FOUND 3 36892009 . c . . NT END=36892203;NT GT ./. 3 36892717 rs4441609 T C 489 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=139;DB;DBA=NA;PAF=T/0.3722,C/0.6278;PC=0.001;Gene=TRANK1/NM_014831.2/1;CC=c.4755+493A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:139:87:0:0:1,138:9,4241:0.06,489.14:0.00,243.41:0.06,245.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:94.0,40.4:0,0:0,0:46,77:104,68:0,43:NM_014831.2(TRANK1) c.4755+493A>G,NM_014831.2(TRANK1) c.4755+493A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 3 36892909 . C . . NT END=36893209;NT GT ./. 3 36893000 rs4375995 A G 181 nt VT=SNV;PN=T;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.7883,G/0.2117;PC=0.023;Gene=TRANK1/NM_014831.2/1;CC=c.4755+210T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:G:52:13:0:0:52:1560:180.61:36.03:144.58:1.00:1.00:1.00:60:50.1:0:0:107:43:32:NM_014831.2(TRANK1) c.4755+210T>C,NM_014831.2(TRANK1) c.4755+210T>C:0.24,0.24:NOT_FOUND,NOT_FOUND 3 36893348 . C . . NT END=36893636;NT GT ./. 3 36893837 . C . . NT END=36896663;NT GT ./. 3 36896653 rs9818599 G C 256 nt VT=SNV;PN=A;NN=C;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.003594,C/0.9964,T/.;NP=3456;Gene=TRANK1/NM_014831.2/1;CC=c.4417+11C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:67:61:0:0:67:2243:256.25:215.16:41.09:1.00:1.00:1.00:60:38.2:0:0:53:98:28:NM_014831.2(TRANK1) c.4417+11C>G,NM_014831.2(TRANK1) c.4417+11C>G:1,1:0.998032,0.998032 3 36897812 rs11712950 T C 854 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=241;DB;DBA=NA;PAF=T/0.719,C/0.281;Gene=TRANK1/NM_014831.2/1;CC=c.3269A>G;ProtCh=p.E1090G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:241:163:0:0:1,238,2:9,7451,37:0.03,853.73,0.00:-0.00,442.30,0.00:0.03,411.42,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:96.0,38.4,54.5:0,0,0:0,0,0:91,68,30:52,76,121:0,37,4:NM_014831.2(TRANK1) c.3269A>G (p.Glu1090Gly),NM_014831.2(TRANK1) c.3269A>G (p.Glu1090Gly):0.31,0.31:0.20294,0.20294 3 36898991 rs61732326 T C 260 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=T/0.9904,C/0.009585;PC=1.000;Gene=TRANK1/NM_014831.2/1;CC=c.2090A>G;ProtCh=p.Q697R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:200:129:0:0:93,107:2754,3587:259.59,0.00:125.76,0.00:133.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,8.1:0,0:0,0:86,69:62,80:30,40:NM_014831.2(TRANK1) c.2090A>G (p.Gln697Arg),-:0.01,-:0.018973,- 3 36899541 . C . . NT END=36900208;NT GT ./. 3 36899593 rs7619089 C T 186 nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.6032,T/0.3968;Gene=TRANK1/NM_014831.2/1;CC=c.1541-53G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:T:53:16:0:0:53:1609:185.98:37.47:148.51:1.00:1.00:1.00:60:38.1:0:0:121:29:18:NM_014831.2(TRANK1) c.1541-53G>A,NM_014831.2(TRANK1) c.1541-53G>A:0.4,0.4:NOT_FOUND,NOT_FOUND 3 36900386 . C . . NT END=36902396;NT GT ./. 3 36902652 . C . . NT END=36905809;NT GT ./. 3 36905972 . C . . NT END=36915616;NT GT ./. 3 36906194 rs9838909 C T 47 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=490;PC=0.001;Gene=TRANK1/NM_014831.2/1;CC=c.947-223G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:T:13:0:0:0:13:405:46.65:0.00:46.65:1.00:0.00:1.00:60:42.6:0:0:107:43:12:NM_014831.2(TRANK1) c.947-223G>A,NM_014831.2(TRANK1) c.947-223G>A:1,1:NOT_FOUND,NOT_FOUND 3 36915447 rs373590008 TA T 8 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=6;PC=0.039;Gene=TRANK1/NM_014831.2/1;CC=c.946+169delT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,TA,I,T:12:12:2:3:1,6,2,3:34,159,53,88:2.57,0.00,4.23,7.68:2.57,0.00,4.23,7.68:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.59:0.00,0.00,0.00,0.59:0.00,0.00,0.00,0.00:60,60,60,60:98.0,47.2,36.0,73.7:0,0,0,0:0,0,0,0:88,24,57,36:62,126,94,114:0,20,49,32:-,NM_014831.2(TRANK1) c.946+169delT:-,NOT_FOUND:-,NOT_FOUND 3 36915524 rs4510338 T C 43 nt VT=SNV;PN=A;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6024,C/0.3976;Gene=TRANK1/NM_014831.2/1;CC=c.946+93A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:27:0:0:15,12:437,374:42.72,0.00:42.72,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:47.7,22.5:0,0:0,0:51,41:100,107:29,20:NM_014831.2(TRANK1) c.946+93A>G,-:0.4,-:NOT_FOUND,- 3 36915788 . C . . NT END=36931319;NT GT ./. 3 36915814 rs4296548 T G 107 nt VT=SNV;PN=G;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=T/0.3692,G/0.6308;PC=0.003;Gene=TRANK1/NM_014831.2/1;CC=c.776-27A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:83:42:0:0:3,38,42:24,1126,1351:-0.09,106.60,0.00:0.06,36.23,0.00:-0.15,70.38,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:40.3,43.0,5.0:0,0,0:0,0,0:94,109,116:57,32,27:49,26,23:NM_014831.2(TRANK1) c.776-27A>C,-:0.65,-:NOT_FOUND,- 3 36931452 . C . . NT END=36933692;NT GT ./. 3 36933832 . C . . NT END=36934391;NT GT ./. 3 36934343 rs60833390 CAT C 40 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=59;PC=0.002;Gene=TRANK1/NM_014831.2/1;CC=c.504+47_504+48delAT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CAT,C:34:34:0:17:1,19,14:10,622,495:0.00,0.00,40.26:-0.22,0.00,34.43:0.22,0.00,5.84:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.98:60,60,60:31.0,11.1,9.4:0,0,2:0,0,0:10,25,26:141,105,110:0,14,14:-,NM_014831.2(TRANK1) c.504+47_504+48delAT:-,NOT_FOUND:-,NOT_FOUND 3 36934476 . C . . NT END=36937130;NT GT ./. 3 36934534 rs9832646 G C 70 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.612,C/0.388;Gene=TRANK1/NM_014831.2/1;CC=c.421-59C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:45:24:0:0:1,24,20:10,722,640:0.00,70.45,0.00:0.10,15.91,0.00:-0.10,54.54,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:42.0,38.1,8.1:0,0,0:0,0,0:106,98,97:44,52,47:0,24,19:NM_014831.2(TRANK1) c.421-59C>G,-:0.39,-:0.312363,- 3 36937106 rs11129741 G A 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.6122,A/0.3878;Gene=TRANK1/NM_014831.2/1;CC=c.420+25C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:31:0:0:16,15:544,440:52.72,0.00:47.65,0.00:5.06,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:39.4,9.8:0,0:0,0:59,51:91,92:35,23:NM_014831.2(TRANK1) c.420+25C>T,-:0.38,-:0.313403,- 3 36937250 . C . . NT END=36940599;NT GT ./. 3 36940340 rs57126220 CA C 13 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CA/0.5767,C/0.4233;NP=14;PC=0.003;Gene=TRANK1/NM_014831.2/1;CC=c.301+259delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:CA,I,C:7:8:1:5:2,1,4:48,34,148:0.00,2.86,12.50:0.00,2.86,12.50:0.00,0.00,0.00:0.00,0.00,0.87:0.00,0.00,0.87:0.00,0.00,0.00:60,60,60:0.0,0.0,10.2:0,0,1:0,0,0:142,42,42:8,108,107:7,0,28:-,NM_014831.2(TRANK1) c.301+259delT:-,NOT_FOUND:-,NOT_FOUND 3 36940741 rs9864910 G T 162 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.6536,T/0.3464;PC=1.000;Gene=TRANK1/NM_014831.2/1;CC=c.160C>A;ProtCh=p.R54=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:105:59:0:0:54,51:1659,1693:0.00,162.00:0.00,55.45:0.00,106.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,40.8:0,0:0,0:78,87:64,58:41,25:-,NM_014831.2(TRANK1) c.160C>A (p.(=)):-,0.35:-,NOT_FOUND 3 36940751 . C . . NT END=36944639;NT GT ./. 3 36944767 . C . . NT END=36949813;NT GT ./. 3 36949962 rs6805239 G T 194 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=156;DB;DBA=NA;PAF=G/0.6514,T/0.3486;Gene=TRANK1/NM_014831.2/1;CC=c.24-5196C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:156:117:0:0:88,68:2778,2082:0.00,194.23:0.00,96.06:0.00,98.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,35.4:0,0:0,0:62,70:79,71:33,37:-,NM_014831.2(TRANK1) c.24-5196C>A:-,0.35:-,NOT_FOUND 3 36950063 . A . . NT END=36986277;NT GT ./. 3 36986301 . G . . NT END=37031896;NT GT ./. 3 37017798 rs56198917 C G 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.7841,G/0.2159;PC=0.128 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:62:52:0:0:44,18:1480,584:0.00,50.77:0.00,37.25:0.00,13.52:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,37.9:0,0:0,0:64,32:87,119:23,12:-,chr3 g.37017797C>G (intergenic):-,0.27:-,NOT_FOUND 3 37031933 . TA T 47 idl,rn VT=DEL;SST=Single;DP=56;NP=2;PC=0.414;Gene=EPM2AIP1/NM_014805.3/1;CC=c.*811delT;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TA,I,T:47:44:4:25:1,26,4,16:12,705,113,804:0.05,0.00,7.80,47.36:-0.11,0.00,5.50,42.89:0.15,0.00,2.31,4.47:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:74.0,32.2,18.8,19.4:0,0,0,9:0,0,0,0:55,75,35,82:96,74,115,63:0,45,22,20:-,NM_014805.3(EPM2AIP1) c.*795T[16]:-,NOT_FOUND:-,NOT_FOUND 3 37032033 rs574750880 TA T 13 rn VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=NA;PC=0.337;Gene=EPM2AIP1/NM_014805.3/1;CC=c.*711delT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TA,I,T:73:48:2:6:65,2,6:1994,65,195:0.00,3.55,13.44:0.00,3.93,6.73:0.00,-0.37,6.71:0.00,0.00,0.79:0.00,0.00,0.93:0.00,0.00,0.92:60,60,60:18.3,0.0,3.2:0,0,0:0,0,0:75,56,67:72,94,84:30,27,8:-,NM_014805.3(EPM2AIP1) c.*702T[9]:-,NOT_FOUND:-,NOT_FOUND 3 37032296 rs1046512 A C 118 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.7929,C/0.2071;PC=0.878;Gene=EPM2AIP1/NM_014805.3/1;CC=c.*449T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:77:53:0:0:39,38:1222,1229:0.00,117.86:0.00,91.60:0.00,26.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,54.4:0,0:0,0:61,68:88,82:22,29:-,NM_014805.3(EPM2AIP1) c.*449T>G:-,0.26:-,NOT_FOUND 3 37032370 rs3172297 T C 139 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=93;DB;DBA=NA;PAF=T/0.7925,C/0.2075;PC=0.001;Gene=EPM2AIP1/NM_014805.3/1;CC=c.*375A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:93:70:0:0:43,50:1462,1618:138.84,0.00:102.32,0.00:36.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.3,5.1:0,0:0,0:54,79:94,71:32,49:NM_014805.3(EPM2AIP1) c.*375A>G,-:0.26,-:NOT_FOUND,- 3 37034569 . T . . NT END=37035038;NT GT ./. 3 37034946 rs1800734 G A 72 nt VT=SNV;PN=T;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.6795,A/0.3205;Gene=MLH1/NM_000249.3/1;CC=c.-93G>A;VC=5UTR;Gene=MLH1/NM_001258271.1/0;CC=c.-93G>A;VC=5UTR;Gene=MLH1/NM_001258273.1/0;CC=c.-725G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:56:0:0:26,32:769,1082:71.88,0.00:68.92,0.00:2.96,0.00:1.00,0.00:1.00,0.00:0.91,0.00:60,60:35.8,7.2:0,0:0,0:40,57:109,93:24,43:NM_000249.3(MLH1) c.-93G>A,-:0.31,-:NOT_FOUND,- 3 37035155 . G . . NT END=37035259;NT GT ./. 3 37035382 . G . . NT END=37038109;NT GT ./. 3 37038201 . G . . NT END=37042445;NT GT ./. 3 37042545 . G . . NT END=37045891;NT GT ./. 3 37045966 . G . . NT END=37048481;NT GT ./. 3 37048555 . G . . NT END=37050304;NT GT ./. 3 37048633 rs4234259 A G 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=in-clinvar;PAF=A/0.6907,G/0.3093;PC=0.051;Gene=MLH1/NM_000249.3/1;CC=c.453+79A>G;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.453+79A>G;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.-271+79A>G;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.159+79A>G;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.-271+79A>G;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.-179+79A>G;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.-271+79A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G:18:2:0:0:6,12:169,415:0.00,42.30:0.00,3.80:0.00,38.50:0.00,1.00:0.00,0.91:0.00,1.00:60,60:18.2,37.1:0,0:0,0:79,98:68,52:44,25:-,NM_000249.3(MLH1) c.453+79A>G:-,0.34:-,NOT_FOUND 3 37050397 . G . . NT END=37053310;NT GT ./. 3 37053354 . G . . NT END=37053501;NT GT ./. 3 37053568 rs1799977 A G 80 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=in-clinvar;PAF=A/0.8704,C/.,G/0.1296;PC=1.000;Gene=MLH1/NM_000249.3/1;CC=c.655A>G;ProtCh=p.I219V;VC=Missense;Gene=MLH1/NM_001258271.1/0;CC=c.655A>G;ProtCh=p.I219V;VC=Missense;Gene=MLH1/NM_001258273.1/0;CC=c.-69A>G;VC=5UTR;Gene=MLH1/NM_001167617.1/0;CC=c.361A>G;ProtCh=p.I121V;VC=Missense;Gene=MLH1/NM_001167618.1/0;CC=c.-69A>G;VC=5UTR;Gene=MLH1/NM_001167619.1/0;CC=c.-69A>G;VC=5UTR;Gene=MLH1/NM_001258274.1/0;CC=c.-69A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:26:0:0:23,25:727,823:0.00,79.82:0.00,30.51:0.00,49.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,38.0:0,0:0,0:114,85:31,60:19,21:-,NM_000249.3(MLH1) c.655A>G (p.Ile219Val):-,0.17:-,0.242965 3 37053591 . G . . NT END=37055922;NT GT ./. 3 37055712 rs548641854 T TGGGA 8 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7734,TGGGA/0.2266;DB;DBA=NA;PAF=NA;NP=2;NP=59;Gene=MLH1/NM_000249.3/1;CC=c.678-209_678-208insGAGG;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.678-209_678-208insGAGG;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.-46-209_-46-208insGAGG;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.384-209_384-208insGAGG;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.-46-209_-46-208insGAGG;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.-46-209_-46-208insGAGG;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.-46-209_-46-208insGAGG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:T,TGGGA:7:7:3:0:4,3:120,88:0.00,8.15:0.00,8.15:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:47.8,0.0:0,0:0,0:19,60:123,91:11,14:-,NM_000249.3(MLH1) c.678-211_678-210insGGGA:-,0.29:-,NOT_FOUND 3 37056036 . G . . NT END=37058996;NT GT ./. 3 37058509 rs4647277 A G 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.6583,G/0.3417;Gene=MLH1/NM_000249.3/1;CC=c.791-488A>G;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.791-488A>G;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.68-488A>G;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.497-488A>G;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.68-488A>G;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.68-488A>G;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.68-488A>G;VC=Intron;DM=MLH1/DNA_mis_repair;DM=MLH1/DNA_mis_repair;DM=MLH1/DNA_mis_repair;DM=MLH1/HATPase_c_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:A,G:16:1:0:0:6,10:185,349:0.00,35.07:0.00,1.94:0.00,33.14:0.00,1.00:0.00,0.75:0.00,1.00:60,60:1.3,38.0:0,0:0,0:71,74:78,76:21,32:-,NM_000249.3(MLH1) c.791-488A>G:-,0.37:-,NOT_FOUND 3 37059091 . G . . NT END=37061800;NT GT ./. 3 37061955 . G . . NT END=37067127;NT GT ./. 3 37062040 rs2286939 T C 76 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=in-clinvar;PAF=T/0.6907,C/0.3093;Gene=MLH1/NM_000249.3/1;CC=c.1038+86T>C;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1038+86T>C;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.315+86T>C;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.744+86T>C;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.315+86T>C;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.315+86T>C;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.315+86T>C;VC=Intron;DM=MLH1/HATPase_c_3;DM=MLH1/HATPase_c_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:8:0:0:24,29:800,892:75.60,0.00:2.45,0.00:73.15,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:37.5,12.6:0,0:0,0:106,108:44,43:29,19:NM_000249.3(MLH1) c.1038+86T>C,-:0.34,-:NOT_FOUND,- 3 37067050 rs11129748 A G 108 nt VT=SNV;PN=T;NN=T;SST=Single;DP=71;DB;DBA=in-clinvar;PAF=A/0.7536,G/0.2464;Gene=MLH1/NM_000249.3/1;CC=c.1039-78A>G;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1039-78A>G;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.316-78A>G;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.745-78A>G;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.316-78A>G;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.316-78A>G;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.316-78A>G;VC=Intron;DM=MLH1/HATPase_c_3;DM=MLH1/HATPase_c_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:71:66:0:0:31,1,38,1:935,12,1102,29:0.00,0.02,107.55,1.35:0.00,0.05,101.03,1.38:0.00,-0.03,6.53,-0.03:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:32.8,91.0,59.5,111.0:0,0,0,0:0,0,0,0:56,103,64,3:72,47,68,147:25,0,27,0:-,NM_000249.3(MLH1) c.1039-78A>G:-,0.3:-,NOT_FOUND 3 37067093 . ATATATATT A 54 idl,nt VT=DEL;SST=Single;DP=88;NP=7;PC=0.636;Gene=MLH1/NM_000249.3/1;CC=c.1039-33_1039-26delATATATTT;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1039-33_1039-26delATATATTT;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.316-33_316-26delATATATTT;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.745-33_745-26delATATATTT;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.316-33_316-26delATATATTT;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.316-33_316-26delATATATTT;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.316-33_316-26delATATATTT;VC=Intron;DM=MLH1/HATPase_c_3;DM=MLH1/HATPase_c_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATATATATT,C,T,A:84:70:0:32:59,1,2,22:1651,10,37,773:0.00,-0.17,1.07,54.44:0.00,-0.17,1.29,40.13:0.00,0.00,-0.23,14.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,70:41.7,124.0,70.5,75.0:22,0,0,4:0,0,0,0:80,56,148,51:66,95,2,82:36,0,2,18:-,NM_000249.3(MLH1) c.1039-34_1039-27delTATATATT:-,NOT_FOUND:-,NOT_FOUND 3 37067094 rs148615368 TATATA T 12 sb;idl,nt VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=7;PC=0.404;Gene=MLH1/NM_000249.3/1;CC=c.1039-33_1039-29delATATA;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1039-33_1039-29delATATA;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.316-33_316-29delATATA;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.745-33_745-29delATATA;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.316-33_316-29delATATA;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.316-33_316-29delATATA;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.316-33_316-29delATATA;VC=Intron;DM=MLH1/HATPase_c_3;DM=MLH1/HATPase_c_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:TATATA,T:63:48:0:45:57,6:1665,180:0.00,12.27:0.00,12.00:0.00,0.27:0.00,0.81:0.00,0.96:0.00,0.91:60,60:45.9,29.2:19,0:0,0:64,102:69,21:29,6:-,NM_000249.3(MLH1) c.1039-33_1039-29delATATA:-,0.54:-,0.584128 3 37067097 rs59684491 A AT 7 idl,nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=27;PC=0.405;Gene=MLH1/NM_000249.3/1;CC=c.1039-30_1039-29insT;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1039-30_1039-29insT;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.316-30_316-29insT;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.745-30_745-29insT;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.316-30_316-29insT;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.316-30_316-29insT;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.316-30_316-29insT;VC=Intron;DM=MLH1/HATPase_c_3;DM=MLH1/HATPase_c_3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,T,AT,D:43:30:4:59:35,3,4,1:972,31,106,97:0.00,0.35,6.93,1.59:0.00,-0.60,3.07,0.87:0.00,0.94,3.86,0.72:0.00,0.00,0.57,0.00:0.00,0.00,0.85,0.00:0.00,0.00,0.83,0.00:60,60,60,60:41.9,77.3,53.2,56.0:11,1,0,2:0,0,0,0:64,49,52,80:75,82,81,70:33,19,17,17:-,NM_000249.3(MLH1) c.1039-31_1039-30insT:-,NOT_FOUND:-,NOT_FOUND 3 37067099 rs6771325 A T 77 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=45;PC=0.404;Gene=MLH1/NM_000249.3/1;CC=c.1039-29A>T;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1039-29A>T;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.316-29A>T;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.745-29A>T;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.316-29A>T;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.316-29A>T;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.316-29A>T;VC=Intron;DM=MLH1/HATPase_c_3;DM=MLH1/HATPase_c_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,I,D:38:28:3:66:11,24,1,2:240,749,90,88:0.00,76.64,2.05,3.81:0.00,43.37,2.10,-0.12:0.00,33.27,-0.06,3.93:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:29.1,56.0,119.0,0.0:2,6,2,1:0,0,0,0:49,54,44,7:69,80,83,116:31,34,9,2:-,NM_000249.3(MLH1) c.1039-29A>T:-,NOT_FOUND:-,NOT_FOUND 3 37067499 . G . . NT END=37070274;NT GT ./. 3 37070106 rs2286940 C T 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7546,T/0.2454;Gene=MLH1/NM_000249.3/1;CC=c.1410-169C>T;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1410-169C>T;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.687-169C>T;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.1116-169C>T;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.687-169C>T;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.687-169C>T;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.687-169C>T;VC=Intron;DM=MLH1/DNA_mis_repair;DM=MLH1/DNA_mis_repair GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,T:17:17:0:0:4,13:110,408:0.00,42.98:0.00,42.98:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:28.5,41.6:0,0:0,0:76,19:75,130:28,15:-,NM_000249.3(MLH1) c.1410-169C>T:-,0.3:-,NOT_FOUND 3 37070424 . G . . NT END=37081676;NT GT ./. 3 37081786 . G . . NT END=37083758;NT GT ./. 3 37083740 rs9876116 A G 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=in-clinvar;PAF=A/0.6877,G/0.3123;Gene=MLH1/NM_000249.3/1;CC=c.1668-19A>G;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1668-19A>G;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.945-19A>G;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.1374-19A>G;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.945-19A>G;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.945-19A>G;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.945-19A>G;VC=Intron;DM=MLH1/DNA_mis_repair;DM=MLH1/DNA_mis_repair GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:22:0:0:13,12:427,338:0.00,31.85:0.00,22.39:0.00,9.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,31.1:0,0:0,0:55,57:91,90:20,25:-,NM_000249.3(MLH1) c.1668-19A>G:-,0.35:-,0.438327 3 37083823 . G . . NT END=37089009;NT GT ./. 3 37089175 . G . . NT END=37090007;NT GT ./. 3 37089840 rs397844288 CT C 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=CT/0.6573,C/0.3427;DB;DBA=NA;PAF=CT/0.6573,C/0.3427;NP=940;PC=0.001;Gene=MLH1/NM_000249.3/1;CC=c.1897-162delT;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1896+672delT;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.1174-162delT;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.1603-162delT;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.1174-162delT;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.1174-162delT;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.1174-162delT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CT,C:6:6:0:3:3,3:102,94:0.00,9.02:0.00,9.02:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:5.7,21.3:0,0:0,0:9,16:142,135:1,12:-,NM_000249.3(MLH1) c.1897-167delT:-,NOT_FOUND:-,NOT_FOUND 3 37090101 . G . . NT END=37090394;NT GT ./. 3 37090274 rs2241031 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=in-clinvar;PAF=C/0.6961,T/0.3039;Gene=MLH1/NM_000249.3/1;CC=c.1990-121C>T;VC=Intron;Gene=MLH1/NM_001258271.1/0;CC=c.1896+1100C>T;VC=Intron;Gene=MLH1/NM_001258273.1/0;CC=c.1267-121C>T;VC=Intron;Gene=MLH1/NM_001167617.1/0;CC=c.1696-121C>T;VC=Intron;Gene=MLH1/NM_001167618.1/0;CC=c.1267-121C>T;VC=Intron;Gene=MLH1/NM_001167619.1/0;CC=c.1267-121C>T;VC=Intron;Gene=MLH1/NM_001258274.1/0;CC=c.1267-121C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:16:0:0:11,14:351,429:0.00,42.08:0.00,24.66:0.00,17.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,34.6:0,0:0,0:60,70:91,80:25,23:-,NM_000249.3(MLH1) c.1990-121C>T:-,0.34:-,NOT_FOUND 3 37090509 . G . . NT END=37091976;NT GT ./. 3 37092145 . A . . NT END=37095341;NT GT ./. 3 37095070 rs10849 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.603,T/0.397;Gene=LRRFIP2/NM_006309.3/1;CC=c.*272G>A;VC=3UTR;Gene=LRRFIP2/NM_001282691.1/0;CC=c.*272G>A;VC=3UTR;Gene=LRRFIP2/NM_001134369.2/0;CC=c.*272G>A;VC=3UTR;Gene=LRRFIP2/NM_017724.2/0;CC=c.*272G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:5:5:0:0:2,3:67,100:0.00,9.97:0.00,9.97:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,33.3:0,0:0,0:24,32:125,119:15,22:-,NM_006309.2(LRRFIP2) c.*272G>A:-,0.44:-,NOT_FOUND 3 37095453 . C . . NT END=37095901;NT GT ./. 3 37096007 . C . . NT END=37096576;NT GT ./. 3 37096024 rs749072 T C 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.6444,C/0.3556;Gene=LRRFIP2/NM_006309.3/1;CC=c.1951-18A>G;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.1297-18A>G;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.1060-18A>G;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.988-18A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:17:0:0:13,22:421,707:38.27,0.00:7.41,0.00:30.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,2.6:0,0:0,0:94,103:56,47:28,25:NM_006309.2(LRRFIP2) c.1951-18A>G,-:0.35,-:0.247962,- 3 37096109 rs113420512 T TAAC 21 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6573,TAAC/0.3427;NP=1909;PC=0.014;Gene=LRRFIP2/NM_006309.3/1;CC=c.1951-104_1951-103insGTT;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.1297-104_1297-103insGTT;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.1060-104_1060-103insGTT;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.988-104_988-103insGTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:T,TAAC:13:0:7:0:6,7:181,219:0.00,21.34:0.00,0.00:0.00,21.34:0.00,0.99:0.00,0.00:0.00,0.99:60,60:29.5,1.4:0,0:0,0:95,98:55,53:12,31:-,NM_006309.2(LRRFIP2) c.1951-104_1951-103insGTT:-,0.37:-,NOT_FOUND 3 37096377 rs200237739 C CAA 13 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=594;Gene=LRRFIP2/NM_006309.3/1;CC=c.1950+199_1950+200insTT;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.1296+199_1296+200insTT;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.1059+199_1059+200insTT;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.987+199_987+200insTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,CAA:5:4:4:0:1,4:32,117:0.00,12.52:0.00,9.64:0.00,2.88:0.00,0.96:0.00,1.00:0.00,0.87:60,60:7.0,23.8:0,0:0,0:55,79:96,70:0,17:-,NM_006309.2(LRRFIP2) c.1950+199_1950+200insTT:-,0.31:-,NOT_FOUND 3 37096657 . C . . NT END=37100280;NT GT ./. 3 37100166 rs72523902 CAAA C 36 idl,nt VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=150;PC=0.003;Gene=LRRFIP2/NM_006309.3/1;CC=c.1870+112_1870+114delTTT;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.1216+112_1216+114delTTT;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.979+112_979+114delTTT;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.907+112_907+114delTTT;VC=Intron;DM=LRRFIP2/DUF2051;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAAA,I,C:23:33:3:21:9,2,12:284,95,641:0.00,4.58,35.78:0.00,4.60,35.88:0.00,-0.01,-0.10:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.58:60,60,60:7.9,65.5,34.3:0,1,9:0,0,0:68,37,37:83,114,114:59,26,28:-,NM_006309.2(LRRFIP2) c.1870+112_1870+114delTTT:-,NOT_FOUND:-,NOT_FOUND 3 37100402 . C . . NT END=37105232;NT GT ./. 3 37105283 . C . . NT END=37107300;NT GT ./. 3 37107434 . C . . NT END=37107714;NT GT ./. 3 37107470 rs2302503 G A 97 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.6985,A/0.3015;Gene=LRRFIP2/NM_006309.3/1;CC=c.1567-37C>T;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.913-37C>T;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.676-37C>T;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.604-37C>T;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:79:30:0:0:32,47:1052,1419:97.35,0.00:18.43,0.00:78.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.4,10.1:0,0:0,0:91,90:58,51:34,28:NM_006309.2(LRRFIP2) c.1567-37C>T,-:0.34,-:0.427341,- 3 37107817 . C . . NT END=37114280;NT GT ./. 3 37114374 . C . . NT END=37116514;NT GT ./. 3 37116386 rs2302504 G T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6983,T/0.3017;PC=0.009;Gene=LRRFIP2/NM_006309.3/1;CC=c.1371+129C>A;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.819+129C>A;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.675+129C>A;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.603+129C>A;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:G,T:11:11:0:0:4,7:126,225:0.00,22.71:0.00,22.71:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.5,35.0:0,0:0,0:49,32:102,119:12,26:-,NM_006309.2(LRRFIP2) c.1371+129C>A:-,0.34:-,NOT_FOUND 3 37116608 . C . . NT END=37125126;NT GT ./. 3 37116808 rs11709376 C G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7446,G/0.2554;Gene=LRRFIP2/NM_006309.3/1;CC=c.1279-201G>C;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.727-201G>C;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.583-201G>C;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.511-201G>C;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:C,G:6:0:0:0:1,5:34,149:0.00,16.09:0.00,0.00:0.00,16.09:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,40.0:0,0:0,0:20,121:128,29:0,19:-,NM_006309.2(LRRFIP2) c.1279-201G>C:-,0.31:-,NOT_FOUND 3 37125298 . C . . NT END=37132957;NT GT ./. 3 37132719 rs113267946 GA G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GA/0.6567,G/0.3433;NP=190;PC=0.002;Gene=LRRFIP2/NM_006309.3/1;CC=c.1107+238delT;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.555+3563delT;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.411+238delT;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.339+3563delT;VC=Intron;DM=LRRFIP2/DUF2051;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GA,G:4:4:0:3:1,3:34,96:0.00,10.05:0.00,10.05:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,0.0:0,0:0,0:7,14:143,137:0,10:-,NM_006309.2(LRRFIP2) c.1107+238delT:-,NOT_FOUND:-,NOT_FOUND 3 37133030 . C . . NT END=37136282;NT GT ./. 3 37133124 rs2302506 A G 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7552,G/0.2448;PC=0.004;Gene=LRRFIP2/NM_006309.3/1;CC=c.1036-95T>C;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.555+3159T>C;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.340-95T>C;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.339+3159T>C;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:2:0:0:13,12:396,400:0.00,38.21:0.00,1.64:0.00,36.57:0.00,1.00:0.00,0.77:0.00,1.00:60,60:11.2,34.9:0,0:0,0:88,120:63,28:35,19:-,NM_006309.2(LRRFIP2) c.1036-95T>C:-,0.3:-,NOT_FOUND 3 37136400 . C . . NT END=37138106;NT GT ./. 3 37138152 . C . . NT END=37144414;NT GT ./. 3 37144505 . C . . NT END=37146945;NT GT ./. 3 37144535 rs2302507 C A 66 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.6548,A/0.3452;PC=0.060;Gene=LRRFIP2/NM_006309.3/1;CC=c.784-31G>T;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.393+5593G>T;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.178-6384G>T;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.178-6384G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:41:18:0:0:21,20:680,602:65.72,0.00:17.21,0.00:48.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.2,14.9:0,0:0,0:99,104:51,29:20,18:NM_006309.2(LRRFIP2) c.784-31G>T,-:0.37,-:0.471161,- 3 37147015 . C . . NT END=37149563;NT GT ./. 3 37149621 . C . . NT END=37150127;NT GT ./. 3 37150176 . C . . NT END=37151017;NT GT ./. 3 37150988 rs6806252 C G 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.5783,G/0.4217;Gene=LRRFIP2/NM_006309.3/1;CC=c.609+30G>C;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.346-813G>C;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.178-12837G>C;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.178-12837G>C;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:36:31:0:0:21,15:653,485:0.00,45.07:0.00,36.01:0.00,9.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,37.6:0,0:0,0:56,39:95,109:33,14:-,NM_006309.2(LRRFIP2) c.609+30G>C:-,0.46:-,0.568353 3 37151063 . C . . NT END=37151143;NT GT ./. 3 37151195 . C . . NT END=37152481;NT GT ./. 3 37152557 . C . . NT END=37154405;NT GT ./. 3 37154472 . C . . NT END=37156544;NT GT ./. 3 37156587 . C . . NT END=37162982;NT GT ./. 3 37163028 . C . . NT END=37163125;NT GT ./. 3 37163039 rs336595 G A 191 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.001997,A/0.998;NP=3466;PC=0.657;Gene=LRRFIP2/NM_006309.3/1;CC=c.286-12C>T;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.235-12C>T;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.177+7515C>T;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.177+7515C>T;VC=Intron;DM=LRRFIP2/DUF2051;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:38:0:0:52:1665:191.28:115.67:75.62:1.00:1.00:1.00:60:41.5:0:0:78:62:32:NM_006309.2(LRRFIP2) c.286-12C>T,NM_006309.2(LRRFIP2) c.286-12C>T:1,1:0.998924,0.998924 3 37163183 . C . . NT END=37169120;NT GT ./. 3 37163332 rs71091696 CGTGT C 7 idl,rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=CGTGT/0.14,C/0.86;DB;DBA=NA;PAF=CGTGT/0.14,C/0.86;NP=6;PC=0.010;Gene=LRRFIP2/NM_006309.3/1;CC=c.229-154_229-151delACAC;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.178-154_178-151delACAC;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.177+7218_177+7221delACAC;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.177+7218_177+7221delACAC;VC=Intron;DM=LRRFIP2/DUF2051;DM=LRRFIP2/DUF2051;DM=LRRFIP2/DUF2051;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:CGTGT,I,C:17:1:1:7:13,1,3:366,21,200:0.00,1.00,7.14:0.00,1.28,0.00:0.00,-0.27,7.14:0.00,0.00,0.49:0.00,0.00,0.43:0.00,0.00,0.90:60,60,60:11.6,82.0,93.3:0,0,4:0,0,0:113,101,71:31,42,79:12,0,8:-,NM_006309.2(LRRFIP2) c.229-154_229-151delACAC:-,NOT_FOUND:-,NOT_FOUND 3 37169172 . C . . NT END=37170553;NT GT ./. 3 37170641 . C . . NT END=37190384;NT GT ./. 3 37170717 rs3733030 T C 84 nt VT=SNV;PN=A;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.6731,C/0.3269;Gene=LRRFIP2/NM_006309.3/1;CC=c.91-77A>G;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.91-77A>G;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.91-77A>G;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.91-77A>G;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:11:0:0:28,20:845,611:83.70,0.00:7.03,0.00:76.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.1,15.4:0,0:0,0:89,99:62,52:31,34:NM_006309.2(LRRFIP2) c.91-77A>G,-:0.36,-:NOT_FOUND,- 3 37170750 rs3733029 G C 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.6839,C/0.3161;Gene=LRRFIP2/NM_006309.3/1;CC=c.91-110C>G;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.91-110C>G;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.91-110C>G;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.91-110C>G;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:41:0:0:0:26,15:808,477:81.43,0.00:0.00,0.00:81.43,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:67.1,9.3:0,0:0,0:93,80:57,70:28,31:NM_006309.2(LRRFIP2) c.91-110C>G,-:0.35,-:NOT_FOUND,- 3 37176045 rs2885608 A G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6841,G/0.3159;PC=0.992;Gene=LRRFIP2/NM_006309.3/1;CC=c.91-5405T>C;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.91-5405T>C;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.91-5405T>C;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.91-5405T>C;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:4:4:0:0:2,2:63,70:0.00,6.75:0.00,6.75:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:5.5,71.5:0,0:0,0:44,27:106,123:41,9:-,NM_006309.2(LRRFIP2) c.91-5405T>C:-,0.35:-,NOT_FOUND 3 37176116 rs9832423 A G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.7562,G/0.2438;PC=0.019;Gene=LRRFIP2/NM_006309.3/1;CC=c.91-5476T>C;VC=Intron;Gene=LRRFIP2/NM_001282691.1/0;CC=c.91-5476T>C;VC=Intron;Gene=LRRFIP2/NM_001134369.2/0;CC=c.91-5476T>C;VC=Intron;Gene=LRRFIP2/NM_017724.2/0;CC=c.91-5476T>C;VC=Intron;DM=LRRFIP2/DUF2051 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G:6:6:0:0:3,3:76,93:0.00,8.94:0.00,9.09:0.00,-0.15:0.00,0.73:0.00,0.73:0.00,0.67:60,60:44.3,58.0:0,0:0,0:23,89:127,62:22,18:-,NM_006309.2(LRRFIP2) c.91-5476T>C:-,0.3:-,NOT_FOUND 3 37190530 . C . . NT END=37285041;NT GT ./. 3 37285114 . G . . NT END=37292885;NT GT ./. 3 37285152 rs2271548 C T 59 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.8119,T/0.1881;Gene=GOLGA4/NM_001172713.1/0;CC=c.72+39C>T;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.72+39C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:18:0:0:18,21:564,612:0.00,59.47:0.00,25.35:0.00,34.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.2,38.0:0,0:0,0:105,108:45,37:25,29:-,NM_001172713.1(GOLGA4) c.72+39C>T:-,0.23:-,0.305158 3 37292976 . G . . NT END=37308332;NT GT ./. 3 37293116 rs112817114 CT C 28 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CT/0.5747,C/0.4253;NP=14;PC=0.048;Gene=GOLGA4/NM_001172713.1/0;CC=c.162+157delT;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.162+157delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:CT,C:14:0:0:10:4,10:138,271:0.00,28.19:0.00,0.00:0.00,28.19:0.00,1.00:0.00,0.00:0.00,1.00:60,70:3.8,15.7:0,0:0,0:141,81:10,62:2,31:-,NM_001172713.1(GOLGA4) c.162+142delT:-,NOT_FOUND:-,NOT_FOUND 3 37308262 rs73059487 A T 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.8297,T/0.1703;PC=0.034;Gene=GOLGA4/NM_001172713.1/0;CC=c.163-6765A>T;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.163-15187A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:28:25:0:0:14,14:446,430:0.00,41.24:0.00,37.48:0.00,3.76:0.00,1.00:0.00,1.00:0.00,0.99:60,60:12.2,34.4:0,0:0,0:32,24:118,127:23,20:-,NM_001172713.1(GOLGA4) c.163-6765A>T:-,0.22:-,NOT_FOUND 3 37308432 . G . . NT END=37315026;NT GT ./. 3 37308532 rs1040073 C T 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8301,T/0.1699;PC=0.105;Gene=GOLGA4/NM_001172713.1/0;CC=c.163-6495C>T;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.163-14917C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:166:C,T:15:0:0:0:9,6:250,167:0.00,15.15:0.00,0.00:0.00,15.15:0.00,0.96:0.00,0.00:0.00,0.96:60,60:5.4,31.2:0,0:0,0:78,88:72,61:37,22:-,NM_001172713.1(GOLGA4) c.163-6495C>T:-,0.22:-,NOT_FOUND 3 37315093 . G . . NT END=37323448;NT GT ./. 3 37317043 rs3733028 T C 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.6967,C/0.3033;PC=0.095;Gene=GOLGA4/NM_001172713.1/0;CC=c.228+1951T>C;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.163-6406T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:35:0:0:19,16:601,443:58.70,0.00:58.70,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.7,13.6:0,0:0,0:61,52:90,99:22,22:NM_001172713.1(GOLGA4) c.228+1951T>C,-:0.33,-:NOT_FOUND,- 3 37323764 . G . . NT END=37327504;NT GT ./. 3 37327553 . G . . NT END=37330725;NT GT ./. 3 37327629 rs58146171 C T 9 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=424;Gene=GOLGA4/NM_001172713.1/0;CC=c.591+77C>T;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.525+77C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:C,T,I,D:20:8:1:5:13,4,1,2:417,109,27,61:0.00,8.77,1.59,4.46:0.00,-0.63,-0.14,-0.30:0.00,9.40,1.74,4.76:0.00,0.71,0.00,0.00:0.00,0.79,0.00,0.00:0.00,0.93,0.00,0.00:60,60,60,60:0.5,131.8,23.0,30.5:0,1,0,0:0,0,0,0:137,110,70,79:14,34,80,49:4,5,0,39:-,NM_001172713.1(GOLGA4) c.591+77C>T:-,NOT_FOUND:-,NOT_FOUND 3 37330783 . G . . NT END=37336469;NT GT ./. 3 37336569 . G . . NT END=37337577;NT GT ./. 3 37337711 . G . . NT END=37340323;NT GT ./. 3 37340512 . G . . NT END=37340778;NT GT ./. 3 37340863 . G . . NT END=37343675;NT GT ./. 3 37343824 . G . . NT END=37356910;NT GT ./. 3 37356133 . A AAC 7 rn VT=INS;SST=Single;DP=4;NP=1;NP=2;NP=3;NP=3;PC=0.048;Gene=GOLGA4/NM_001172713.1/0;CC=c.1301-738_1301-737insAC;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.1235-738_1235-737insAC;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,AAC,D:4:4:2:1:1,2,1:34,66,31:0.00,6.65,2.85:0.00,5.01,2.91:0.00,1.64,-0.06:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.79,0.00:60,60,60:11.0,42.5,10.0:0,0,0:0,0,0:84,26,7:64,113,143:0,19,0:-,NM_001172713.1(GOLGA4) c.1301-778_1301-777insAC:-,NOT_FOUND:-,NOT_FOUND 3 37357090 . G . . NT END=37360553;NT GT ./. 3 37360686 . G . . NT END=37363221;NT GT ./. 3 37360696 rs532989212 A AT 14 idl,rn VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=NA;NP=5;Gene=GOLGA4/NM_001172713.1/0;CC=c.1611+22dupT;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.1545+22dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,AT,D:58:24:6:5:47,6,5:1402,197,150:0.00,14.43,10.24:0.00,4.73,-0.66:0.00,9.70,10.90:0.00,0.82,0.00:0.00,0.84,0.00:0.00,0.96,0.00:60,60,60:5.3,7.3,12.2:0,0,0:0,0,0:81,100,79:61,47,65:36,16,16:-,NM_001172713.1(GOLGA4) c.1611+11_1611+12insT:-,NOT_FOUND:-,NOT_FOUND 3 37363378 . G . . NT END=37365078;NT GT ./. 3 37364899 rs11721021 T G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7167,G/0.2833;PC=0.006;Gene=GOLGA4/NM_001172713.1/0;CC=c.1768-180T>G;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.1702-180T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:G,T:12:12:0:0:5,7:174,229:16.25,0.00:16.25,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:39.0,5.3:0,0:0,0:91,63:60,87:12,29:NM_001172713.1(GOLGA4) c.1768-180T>G,-:0.33,-:NOT_FOUND,- 3 37366459 rs11718848 C A 158 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.8041,A/0.1959;PC=1.000;Gene=GOLGA4/NM_001172713.1/0;CC=c.3148C>A;ProtCh=p.Q1050K;VC=Missense;Gene=GOLGA4/NM_002078.4/1;CC=c.3082C>A;ProtCh=p.Q1028K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:106:59:0:0:53,53:1651,1756:158.37,0.00:71.69,0.00:86.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,8.4:0,0:0,0:80,75:71,72:43,38:NM_001172713.1(GOLGA4) c.3148C>A (p.Gln1050Lys),-:0.24,-:0.320203,- 3 37368755 rs62241896 T A 173 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=T/0.8035,A/0.1965;PC=0.001;Gene=GOLGA4/NM_001172713.1/0;CC=c.5444T>A;ProtCh=p.M1815K;VC=Missense;Gene=GOLGA4/NM_002078.4/1;CC=c.5378T>A;ProtCh=p.M1793K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:108:60:0:0:54,1,53:1790,5,1659:172.59,-0.19,0.00:67.53,-0.10,0.00:105.05,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:47.9,55.0,7.6:0,0,0:0,0,0:82,98,82:69,53,66:40,0,40:NM_001172713.1(GOLGA4) c.5444T>A (p.Met1815Lys),-:0.24,-:0.324258,- 3 37369317 . G . . NT END=37369906;NT GT ./. 3 37369771 rs5847960 ACTCT A 33 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1071;Gene=GOLGA4/NM_001172713.1/0;CC=c.6006-118_6006-115delTCTC;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.5940-118_5940-115delTCTC;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ACTCT,A:23:22:0:13:10,13:299,342:0.00,32.98:0.00,29.61:0.00,3.37:0.00,1.00:0.00,1.00:0.00,0.98:60,60:5.4,14.7:0,0:0,0:55,53:95,98:37,26:-,NM_001172713.1(GOLGA4) c.6006-135_6006-132delCTCT:-,NOT_FOUND:-,NOT_FOUND 3 37370029 . G . . NT END=37370453;NT GT ./. 3 37370585 . G . . NT END=37376543;NT GT ./. 3 37370689 . GT G 10 rn VT=DEL;SST=Single;DP=28;NP=11;PC=0.004;Gene=GOLGA4/NM_001172713.1/0;CC=c.6258+116delT;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.6192+116delT;VC=Intron;DM=GOLGA4/GRIP;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:GT,I,G:28:3:1:4:23,1,4:715,31,127:0.00,1.77,9.70:0.00,-0.02,-0.10:0.00,1.80,9.80:0.00,0.00,0.66:0.00,0.00,0.42:0.00,0.00,0.66:60,60,70:13.5,25.0,3.2:0,0,0:0,0,0:91,100,97:57,50,52:30,0,29:-,NM_001172713.1(GOLGA4) c.6258+106delT:-,NOT_FOUND:-,NOT_FOUND 3 37376500 rs563274640 C CT 49 rn VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.6771,CT/0.3229;DB;DBA=NA;PAF=C/0.6771,CT/0.3229;DB;DBA=NA;PAF=C/0.6771,CT/0.3229,CTT/.;NP=3;NP=809;Gene=GOLGA4/NM_001172713.1/0;CC=c.6259-36_6259-35insT;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.6193-36_6193-35insT;VC=Intron;DM=GOLGA4/GRIP;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:32:30:16:1:15,16,1:517,510,32:0.00,49.30,1.97:0.00,35.71,1.99:0.00,13.59,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:26.7,22.0,29.0:0,0,0:0,0,0:38,28,41:112,122,107:20,9,0:-,NM_001172713.1(GOLGA4) c.6259-44_6259-43insT:-,NOT_FOUND:-,NOT_FOUND 3 37376658 . G . . NT END=37378633;NT GT ./. 3 37378655 . G . . NT END=37379156;NT GT ./. 3 37379226 . G . . NT END=37381614;NT GT ./. 3 37379234 rs140703855 C T 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.9946,T/0.005391;NP=78;PC=0.001;Gene=GOLGA4/NM_001172713.1/0;CC=c.6441+9C>T;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.6396+9C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:21:0:0:20,17:677,544:0.00,51.41:0.00,20.37:0.00,31.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,35.8:0,0:0,0:69,90:77,60:24,31:-,NM_001172713.1(GOLGA4) c.6441+9C>T:-,0.01:-,0.011226 3 37381691 . G . . NT END=37388683;NT GT ./. 3 37388577 rs386396375 C CA 8 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5735,CA/0.4265,CC/.;DB;DBA=NA;PAF=C/0.5735,CA/0.4265;NP=1294;Gene=GOLGA4/NM_001172713.1/0;CC=c.6518-106dupA;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.6473-106dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:C,CA:9:9:3:0:6,3:184,88:0.00,7.75:0.00,7.75:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:11.8,26.7:0,0:0,0:30,48:120,103:18,36:-,NM_001172713.1(GOLGA4) c.6518-107_6518-106insA:-,0.43:-,NOT_FOUND 3 37388788 . G . . NT END=37396591;NT GT ./. 3 37396679 . G . . NT END=37402733;NT GT ./. 3 37402797 . G . . NT END=37407570;NT GT ./. 3 37407489 rs17266090 A G 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.6819,G/0.3181;Gene=GOLGA4/NM_001172713.1/0;CC=c.6709-82A>G;VC=Intron;Gene=GOLGA4/NM_002078.4/1;CC=c.*34-82A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:25:0:0:11,18:364,579:0.00,58.09:0.00,46.69:0.00,11.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,34.0:0,0:0,0:50,41:100,109:15,31:-,NM_001172713.1(GOLGA4) c.6709-82A>G:-,0.35:-,NOT_FOUND 3 37407595 . A . . NT END=37458757;NT GT ./. 3 37407664 rs62241901 G T 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.7889,T/0.2111;PC=0.469;Gene=GOLGA4/NM_001172713.1/0;CC=c.*70G>T;VC=3UTR;Gene=GOLGA4/NM_002078.4/1;CC=c.*127G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:4:0:0:7,16:234,514:0.00,52.89:0.00,2.64:0.00,50.26:0.00,1.00:0.00,0.99:0.00,1.00:60,60:0.0,34.0:0,0:0,0:95,94:56,56:17,32:-,NM_001172713.1(GOLGA4) c.*70G>T:-,0.25:-,NOT_FOUND 3 37459334 rs60085343 T TACACACACACAC 46 idl VT=INS;SST=Single;DP=252;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;Gene=C3orf35/NM_178344.2/0;CC=c.*250_*251insCACACACACACA;VC=3UTR;Gene=C3orf35/NM_178342.2/0;CC=c.*250_*251insCACACACACACA;VC=3UTR;Gene=C3orf35/NM_178339.2/1;CC=c.226+384_226+385insCACACACACACA;VC=Intron;Gene=C3orf35/NR_126512.1/0;VC=NonCoding;Gene=C3orf35/NR_126513.1/0;VC=NonCoding;Gene=C3orf35/NR_126514.1/0;VC=NonCoding;Gene=C3orf35/NM_001302831.1/0;CC=c.*250_*251insCACACACACACA;VC=3UTR;Gene=C3orf35/NM_001302832.1/0;CC=c.*250_*251insCACACACACACA;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,C,T,TACACACACACAC,D:234:172:39:16:2,1,195,23,13:19,10,6052,1091,421:-0.53,-0.30,0.00,45.73,21.00:-0.34,-0.17,0.00,31.30,5.48:-0.19,-0.13,0.00,14.43,15.52:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:130.5,109.0,11.6,24.0,8.6:0,0,0,16,2:0,0,0,0,0:48,113,101,64,54:103,5,34,85,84:47,0,25,19,13:-,NM_178339.2(C3orf35) c.226+351_226+352insACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 37459357 . a . . NT END=37476334;NT GT ./. 3 37476622 . A . . NT END=37493865;NT GT ./. 3 37494051 . G . . NT END=37512497;NT GT ./. 3 37512626 . G . . NT END=37514844;NT GT ./. 3 37512646 rs11713408 T C 96 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.4473,C/0.5527;Gene=ITGA9/NM_002207.2/1;CC=c.313+21T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:33:0:0:31,37:1019,1182:96.31,0.00:33.30,0.00:63.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.0,9.6:0,0:0,0:99,99:40,51:15,25:NM_002207.2(ITGA9) c.313+21T>C,-:0.47,-:0.590035,- 3 37512647 rs11709385 G C 92 nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.4479,C/0.5521,T/.;Gene=ITGA9/NM_002207.2/1;CC=c.313+22G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:68:33:0:0:31,37:975,1186:91.93,0.00:31.25,0.00:60.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.0,8.5:0,0:0,0:100,106:39,44:15,22:NM_002207.2(ITGA9) c.313+22G>C,-:0.47,-:0.593342,- 3 37514627 rs397877176 CA C,CAA 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:28:CAA,C:3:4:1:3:1,2:32,82:3.08,6.65:3.08,6.65:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:69.0,93.5:0,1:0,0:15,63:136,88:0,35:NM_002207.2(ITGA9) c.314-217delA,NM_002207.2(ITGA9) c.314-217dupA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 37514952 . G . . NT END=37522974;NT GT ./. 3 37523099 . G . . NT END=37535991;NT GT ./. 3 37536060 . G . . NT END=37544668;NT GT ./. 3 37544799 . G . . NT END=37547490;NT GT ./. 3 37547577 . G . . NT END=37550049;NT GT ./. 3 37550027 . AT A 23 idl,rn VT=DEL;SST=Single;DP=46;NP=38;Gene=ITGA9/NM_002207.2/1;CC=c.829-11delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:45:33:2:10:34,2,9:1032,67,319:0.00,4.28,23.31:0.00,2.12,14.98:0.00,2.16,8.33:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:10.7,0.0,18.0:0,0,1:0,0,0:43,26,43:99,99,97:28,23,26:-,NM_002207.2(ITGA9) c.829-22delT:-,NOT_FOUND:-,NOT_FOUND 3 37550119 . G . . NT END=37555253;NT GT ./. 3 37555392 . G . . NT END=37558994;NT GT ./. 3 37559101 . G . . NT END=37560750;NT GT ./. 3 37559255 rs149603743 A G 18 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9944,G/0.005591;NP=13;PC=0.055;Gene=ITGA9/NM_002207.2/1;CC=c.1141+155A>G;VC=Intron;DM=ITGA9/FG-GAP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:15:0:0:0:9,6:285,195:0.00,17.98:0.00,0.00:0.00,17.98:0.00,0.96:0.00,0.00:0.00,0.96:60,60:4.9,32.5:0,0:0,0:70,114:81,37:31,5:-,NM_002207.2(ITGA9) c.1141+155A>G:-,0.01:-,NOT_FOUND 3 37560846 . G . . NT END=37565011;NT GT ./. 3 37565103 . G . . NT END=37567516;NT GT ./. 3 37567563 . G . . NT END=37574804;NT GT ./. 3 37574960 . G . . NT END=37583915;NT GT ./. 3 37584077 . G . . NT END=37670677;NT GT ./. 3 37670828 . G . . NT END=37695204;NT GT ./. 3 37695282 . G . . NT END=37725355;NT GT ./. 3 37695681 rs67516814 CCA C 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=24;Gene=ITGA9/NM_002207.2/1;CC=c.1916+440_1916+441delAC;VC=Intron;DM=ITGA9/Integrin_alpha2;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:CCA,T,C:4:5:0:3:1,1,2:35,8,94:0.00,0.50,6.54:0.00,0.55,6.65:0.00,-0.05,-0.11:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.60:60,60,60:0.0,183.0,41.5:0,0,1:0,0,0:37,84,55:87,38,96:0,0,3:-,NM_002207.2(ITGA9) c.1916+401_1916+402delCA:-,NOT_FOUND:-,NOT_FOUND 3 37725507 . G . . NT END=37774202;NT GT ./. 3 37733903 rs7622985 A T 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5661,T/0.4339;Gene=ITGA9/NM_002207.2/1;CC=c.2067+8397A>T;VC=Intron;DM=ITGA9/Integrin_alpha2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:4:4:0:0:1,3:35,94:0.00,9.85:0.00,6.70:0.00,3.15:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,41.7:0,0:0,0:136,23:15,57:0,5:-,NM_002207.2(ITGA9) c.2067+8397A>T:-,0.41:-,NOT_FOUND 3 37774290 . G . . NT END=37778394;NT GT ./. 3 37778475 . G . . NT END=37783220;NT GT ./. 3 37783311 . G . . NT END=37785416;NT GT ./. 3 37785526 . G . . NT END=37791952;NT GT ./. 3 37790238 rs34063758 T TA 9 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=ITGA9/NM_002207.2/1;CC=c.2434-1695_2434-1694insA;VC=Intron;DM=ITGA9/Integrin_alpha2;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:T,TA,D:10:10:3:4:4,3,3:105,96,120:0.00,8.79,7.89:0.00,5.88,7.89:0.00,2.91,0.00:0.00,0.60,0.00:0.00,0.93,0.00:0.00,0.52,0.00:60,60,60:42.0,3.7,15.7:0,0,1:0,0,0:70,82,69:77,69,82:58,29,24:-,NM_002207.2(ITGA9) c.2434-1715_2434-1714insA:-,NOT_FOUND:-,NOT_FOUND 3 37792061 . G . . NT END=37818882;NT GT ./. 3 37819009 . G . . NT END=37821392;NT GT ./. 3 37821513 . G . . NT END=37826467;NT GT ./. 3 37826570 . G . . NT END=37845313;NT GT ./. 3 37845434 . G . . NT END=37860381;NT GT ./. 3 37860481 . G . . NT END=37903690;NT GT ./. 3 37903770 . G . . NT END=37988547;NT GT ./. 3 37963098 rs71622556 CCA C 13 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=33;Gene=CTDSPL/NM_001008392.1/1;CC=c.80-25414_80-25413delAC;VC=Intron;Gene=CTDSPL/NM_005808.2/0;CC=c.80-25414_80-25413delAC;VC=Intron;DM=CTDSPL/NIF;DM=CTDSPL/NIF;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CCA,C:5:8:0:7:1,4:34,219:0.00,13.20:0.00,8.69:0.00,4.51:0.00,0.87:0.00,0.87:0.00,0.51:60,60:0.0,12.0:0,3:0,0:41,39:31,109:0,27:-,NM_001008392.1(CTDSPL) c.80-25449_80-25448delCA:-,NOT_FOUND:-,NOT_FOUND 3 37988703 . G . . NT END=37998601;NT GT ./. 3 37998635 . G . . NT END=38006061;NT GT ./. 3 38006164 . G . . NT END=38009316;NT GT ./. 3 38009374 . G . . NT END=38012897;NT GT ./. 3 38012991 . G . . NT END=38017199;NT GT ./. 3 38017386 . G . . NT END=38022232;NT GT ./. 3 38022163 rs35271401 C T 154 nt VT=SNV;PN=C;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.9788,T/0.02117;Gene=CTDSPL/NM_001008392.1/1;CC=c.706-70C>T;VC=Intron;Gene=CTDSPL/NM_005808.2/0;CC=c.673-70C>T;VC=Intron;DM=CTDSPL/NIF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:72:61:0:0:24,1,47:780,5,1511:0.00,-0.11,153.74:0.00,-0.07,106.00:0.00,-0.05,47.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:1.7,5.0,36.5:0,0,0:0,0,0:46,40,48:101,110,100:20,0,23:-,NM_001008392.1(CTDSPL) c.706-70C>T:-,0.03:-,NOT_FOUND 3 38022359 . C . . NT END=38035163;NT GT ./. 3 38035224 . G . . NT END=38035388;NT GT ./. 3 38035464 . G . . NT END=38035751;NT GT ./. 3 38035958 . G . . NT END=38037229;NT GT ./. 3 38037339 . G . . NT END=38038567;NT GT ./. 3 38038679 . G . . NT END=38038973;NT GT ./. 3 38039177 . G . . NT END=38039580;NT GT ./. 3 38039660 . G . . NT END=38039756;NT GT ./. 3 38039856 . G . . NT END=38040402;NT GT ./. 3 38040542 . G . . NT END=38040829;NT GT ./. 3 38040931 . G . . NT END=38042946;NT GT ./. 3 38043085 . G . . NT END=38043192;NT GT ./. 3 38043352 . G . . NT END=38043886;NT GT ./. 3 38044067 . G . . NT END=38044658;NT GT ./. 3 38044805 . G . . NT END=38045745;NT GT ./. 3 38045891 . G . . NT END=38047282;NT GT ./. 3 38047466 . G . . NT END=38047671;NT GT ./. 3 38047744 . G . . NT END=38047917;NT GT ./. 3 38048192 . G . . NT END=38048432;NT GT ./. 3 38048547 . A . . NT END=38049263;NT GT ./. 3 38049350 . C . . NT END=38049504;NT GT ./. 3 38049655 . C . . NT END=38049725;NT GT ./. 3 38049859 . C . . NT END=38049948;NT GT ./. 3 38050128 . C . . NT END=38050532;NT GT ./. 3 38050650 . C . . NT END=38050762;NT GT ./. 3 38050923 . C . . NT END=38051143;NT GT ./. 3 38051303 . C . . NT END=38051394;NT GT ./. 3 38051767 . C . . NT END=38051851;NT GT ./. 3 38052054 . C . . NT END=38052704;NT GT ./. 3 38052937 . C . . NT END=38053034;NT GT ./. 3 38053165 . C . . NT END=38057981;NT GT ./. 3 38058211 . C . . NT END=38061678;NT GT ./. 3 38061844 . C . . NT END=38065827;NT GT ./. 3 38066279 . A . . NT END=38070996;NT GT ./. 3 38071031 . G . . NT END=38080716;NT GT ./. 3 38080952 rs7625806 T G 873 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=242;DB;DBA=NA;PAF=T/0.5491,G/0.4509;PC=0.383;Gene=DLEC1/NM_007335.2/1;CC=c.236T>G;ProtCh=p.L79R;VC=Missense;Gene=DLEC1/NM_007337.2/0;CC=c.236T>G;ProtCh=p.L79R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:242:149:0:0:242:7584:873.40:393.99:479.41:1.00:1.00:1.00:60:53.1:0:0:73:74:29:NM_007335.2(DLEC1) c.236T>G (p.Leu79Arg),NM_007335.2(DLEC1) c.236T>G (p.Leu79Arg):0.45,0.45:0.400291,0.400291 3 38081031 rs7616776 A T 853 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=224;DB;DBA=NA;PAF=A/0.6575,T/0.3425;Gene=DLEC1/NM_007335.2/1;CC=c.315A>T;ProtCh=p.S105=;VC=Silent;Gene=DLEC1/NM_007337.2/0;CC=c.315A>T;ProtCh=p.S105=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:224:138:0:0:1,223:9,7468:0.03,852.59:0.00,400.56:0.03,452.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,56.2:0,0:0,0:6,77:145,70:0,40:NM_007335.2(DLEC1) c.315A>T (p.(=)),NM_007335.2(DLEC1) c.315A>T (p.(=)):0.36,0.36:0.295686,0.295686 3 38081128 . G . . NT END=38087033;NT GT ./. 3 38081438 rs13059214 C T 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8151,T/0.1849;Gene=DLEC1/NM_007335.2/1;CC=c.411+311C>T;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.411+311C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:39.8:0:0:136:15:12:NM_007335.2(DLEC1) c.411+311C>T,NM_007335.2(DLEC1) c.411+311C>T:0.22,0.22:NOT_FOUND,NOT_FOUND 3 38087185 . G . . NT END=38101232;NT GT ./. 3 38093744 rs3792520 C A 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5927,A/0.4073;PC=1.000;Gene=DLEC1/NM_007335.2/1;CC=c.562+6560C>A;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.562+6560C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:6:0:0:9:298:34.09:17.05:17.05:1.00:1.00:1.00:60:66.2:0:0:96:55:29:NM_007335.2(DLEC1) c.562+6560C>A,NM_007335.2(DLEC1) c.562+6560C>A:0.42,0.42:NOT_FOUND,NOT_FOUND 3 38093750 rs3792521 T C 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.599,C/0.401;PC=0.984;Gene=DLEC1/NM_007335.2/1;CC=c.562+6566T>C;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.562+6566T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:6:0:0:9:280:32.26:15.57:16.70:1.00:1.00:1.00:60:66.2:0:0:102:49:29:NM_007335.2(DLEC1) c.562+6566T>C,NM_007335.2(DLEC1) c.562+6566T>C:0.41,0.41:NOT_FOUND,NOT_FOUND 3 38097553 . TACACACACACACAC T 7 nt VT=DEL;SST=Single;DP=4;NP=5;PC=0.009;Gene=DLEC1/NM_007335.2/1;CC=c.563-3638_563-3625delCACACACACACACA;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.563-3638_563-3625delCACACACACACACA;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TACACACACACACAC,T:3:4:0:3:1,2:34,100:0.00,6.75:0.00,5.01:0.00,1.74:0.00,0.51:0.00,0.51:0.00,0.67:60,60:0.0,0.0:0,1:0,0:117,37:33,114:0,7:-,NM_007335.2(DLEC1) c.563-3679_563-3666delACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 38101344 . G . . NT END=38103659;NT GT ./. 3 38103860 . G . . NT END=38104071;NT GT ./. 3 38104293 . G . . NT END=38105331;NT GT ./. 3 38104353 rs3752614 G A 101 nt VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.6548,A/0.3452;Gene=DLEC1/NM_007335.2/1;CC=c.1094+61G>A;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1094+61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:5:0:0:29:875:101.28:10.43:90.85:1.00:1.00:1.00:60:34.1:0:0:117:32:19:NM_007335.2(DLEC1) c.1094+61G>A,NM_007335.2(DLEC1) c.1094+61G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 3 38105411 . G . . NT END=38125648;NT GT ./. 3 38105507 rs200723161 T TC 54 nt VT=INS;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=151;PC=0.593;Gene=DLEC1/NM_007335.2/1;CC=c.1173+97_1173+98insC;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1173+97_1173+98insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:TC:15:0:15:0:15:465:53.65:0.00:53.65:1.00:0.00:1.00:70:14.9:0:0:124:27:23:NM_007335.2(DLEC1) c.1173+97_1173+98insC,NM_007335.2(DLEC1) c.1173+97_1173+98insC:0.02,0.02:NOT_FOUND,NOT_FOUND 3 38125705 rs7652276 G A 264 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.6246,A/0.3754;PC=0.001;Gene=DLEC1/NM_007335.2/1;CC=c.1230G>A;ProtCh=p.P410=;VC=Silent;Gene=DLEC1/NM_007337.2/0;CC=c.1230G>A;ProtCh=p.P410=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:74:51:0:0:74:2294:264.49:134.08:130.41:1.00:1.00:1.00:60:35.1:0:0:81:57:23:NM_007335.2(DLEC1) c.1230G>A (p.(=)),NM_007335.2(DLEC1) c.1230G>A (p.(=)):0.39,0.39:0.331667,0.331667 3 38125737 . G . . NT END=38126764;NT GT ./. 3 38125844 rs62240733 G A 82 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=1352;PC=0.510;Gene=DLEC1/NM_007335.2/1;CC=c.1261+108G>A;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+108G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A,G:24:1:0:0:23,1:734,35:82.48,0.00:-1.38,0.00:83.86,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,9:60.3,155.0:0,0:0,0:112,35:39,91:27,0:NM_007335.2(DLEC1) c.1261+108G>A,NM_007335.2(DLEC1) c.1261+108G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 38125880 rs74704301 GGTA G 35 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=379;PC=0.446;Gene=DLEC1/NM_007335.2/1;CC=c.1261+156_1261+158delAGT;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+156_1261+158delAGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:GGTA,G:18:2:0:11:7,11:179,354:0.00,35.45:0.00,-0.60:0.00,36.05:0.00,1.00:0.00,0.87:0.00,1.00:60,60:132.3,39.5:2,0:0,0:65,96:61,55:32,25:-,NM_007335.2(DLEC1) c.1261+145_1261+147delGTA:-,NOT_FOUND:-,NOT_FOUND 3 38125892 rs201830481 A G 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=3;PC=0.126;Gene=DLEC1/NM_007335.2/1;CC=c.1261+156A>G;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+156A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,G,D:16:2:0:1:12,3,1:383,98,22:0.00,7.97,1.15:0.00,1.48,-0.01:0.00,6.49,1.16:0.00,0.54,0.00:0.00,0.45,0.00:0.00,0.54,0.00:60,60,60:49.5,205.0,85.0:0,0,0:0,0,0:97,71,45:54,80,105:29,26,0:-,NM_007335.2(DLEC1) c.1261+156A>G:-,NOT_FOUND:-,NOT_FOUND 3 38125943 rs62240739 G A 31 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=293;PC=0.309;Gene=DLEC1/NM_007335.2/1;CC=c.1261+207G>A;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+207G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:A,G:15:2:0:0:10,5:302,121:30.81,0.00:-0.48,0.00:31.28,0.00:1.00,0.00:0.91,0.00:1.00,0.00:60,60:83.6,195.2:0,3:0,0:91,54:56,96:33,18:NM_007335.2(DLEC1) c.1261+207G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 38125953 rs62240740 A G 9 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.9635,G/0.03654;NP=1;PC=0.161;Gene=DLEC1/NM_007335.2/1;CC=c.1261+217A>G;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+217A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:12:0:0:4:7,5:192,100:0.00,8.80:0.00,0.00:0.00,8.80:0.00,0.92:0.00,0.00:0.00,0.92:60,60:48.7,190.8:0,0:0,0:103,51:46,88:4,13:-,NM_007335.2(DLEC1) c.1261+217A>G:-,NOT_FOUND:-,NOT_FOUND 3 38125970 rs62240744 G A 8 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=NA;PC=0.913;Gene=DLEC1/NM_007335.2/1;CC=c.1261+234G>A;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+234G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:85:A,G:14:2:0:1:4,10:96,237:7.88,0.00:3.48,0.00:4.39,0.00:0.77,0.00:0.57,0.00:0.77,0.00:31,60:203.2,79.8:0,0:0,0:67,92:74,57:21,29:NM_007335.2(DLEC1) c.1261+234G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 38125985 rs140778850 A G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=10;PC=0.948;Gene=DLEC1/NM_007335.2/1;CC=c.1261+249A>G;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+249A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G:15:3:0:0:10,5:272,120:0.00,10.24:0.00,5.65:0.00,4.59:0.00,0.89:0.00,0.73:0.00,0.99:60,60:104.5,206.0:1,0:0,0:85,71:59,72:33,17:-,NM_007335.2(DLEC1) c.1261+249A>G:-,NOT_FOUND:-,NOT_FOUND 3 38125994 . GGTA G 7 nt VT=DEL;SST=Single;DP=14;NP=14;PC=0.992;Gene=DLEC1/NM_007335.2/1;CC=c.1261+270_1261+272delAGT;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+270_1261+272delAGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,GGTA,G:13:2:0:4:1,9,3:7,269,110:-0.04,0.00,7.49:0.24,0.00,-0.05:-0.27,0.00,7.54:0.00,0.00,0.56:0.00,0.00,0.49:0.00,0.00,0.92:10,60,60:214.0,152.6,159.0:0,0,1:0,0,0:63,96,89:63,54,58:0,48,3:-,NM_007335.2(DLEC1) c.1261+259_1261+261delGTA:-,NOT_FOUND:-,NOT_FOUND 3 38125997 rs62240745 A G 9 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=12;PC=0.992;Gene=DLEC1/NM_007335.2/1;CC=c.1261+261A>G;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+261A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,G:9:1:0:4:6,3:169,99:0.00,8.86:0.00,-0.16:0.00,9.02:0.00,0.64:0.00,0.56:0.00,0.94:60,31:129.3,181.7:0,0:0,0:121,99:28,51:27,51:-,NM_007335.2(DLEC1) c.1261+261A>G:-,NOT_FOUND:-,NOT_FOUND 3 38126021 . A G 9 mq,nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;PC=0.731;Gene=DLEC1/NM_007335.2/1;CC=c.1261+285A>G;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+285A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:10:2:0:0:7,3:245,99:0.00,8.68:0.00,4.93:0.00,3.75:0.00,0.62:0.00,0.59:0.00,0.94:60,13:134.1,244.7:2,0:0,0:107,90:35,36:9,19:-,NM_007335.2(DLEC1) c.1261+285A>G:-,NOT_FOUND:-,NOT_FOUND 3 38126030 rs199537934 GGTA G 9 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=45;PC=0.060;Gene=DLEC1/NM_007335.2/1;CC=c.1261+303_1261+305delAGT;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+303_1261+305delAGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:GGTA,G:9:2:0:4:6,3:186,96:0.00,8.54:0.00,-0.26:0.00,8.81:0.00,0.64:0.00,0.63:0.00,0.94:60,60:208.7,90.7:0,0:0,0:113,125:25,26:16,1:-,NM_007335.2(DLEC1) c.1261+295_1261+297delGTA:-,NOT_FOUND:-,NOT_FOUND 3 38126057 . A G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;PC=0.898;Gene=DLEC1/NM_007335.2/1;CC=c.1261+321A>G;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1261+321A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:A,G:6:1:0:0:3,3:99,96:0.00,9.22:0.00,1.74:0.00,7.49:0.00,0.73:0.00,0.67:0.00,0.73:60,60:124.7,190.3:0,0:0,0:131,137:20,8:18,6:-,NM_007335.2(DLEC1) c.1261+321A>G:-,NOT_FOUND:-,NOT_FOUND 3 38126640 rs12629897 T C 82 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5228,C/0.4772;Gene=DLEC1/NM_007335.2/1;CC=c.1262-125T>C;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1262-125T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A,C:23:23:0:0:1,22:11,724:0.39,82.43:0.39,80.45:0.00,1.98:0.00,1.00:0.00,1.00:0.00,0.97:60,60:162.0,55.5:0,0:0,0:113,31:38,111:0,19:NM_007335.2(DLEC1) c.1262-125T>C,NM_007335.2(DLEC1) c.1262-125T>C:0.48,0.48:0.408235,0.408235 3 38126939 . G . . NT END=38127731;NT GT ./. 3 38127869 . G . . NT END=38129786;NT GT ./. 3 38129880 . G . . NT END=38134280;NT GT ./. 3 38130113 rs2236630 T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.5421,C/0.4579;Gene=DLEC1/NM_007335.2/1;CC=c.1665+234T>C;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1665+234T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:7:C:6:0:0:0:6:124:14.97:0.00:14.97:1.00:0.00:1.00:60:47.8:0:0:141:10:8:NM_007335.2(DLEC1) c.1665+234T>C,NM_007335.2(DLEC1) c.1665+234T>C:0.47,0.47:NOT_FOUND,NOT_FOUND 3 38134372 . G . . NT END=38135095;NT GT ./. 3 38134438 rs11129778 A G 128 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.04792,G/0.9521;Gene=DLEC1/NM_007335.2/1;CC=c.1756+67A>G;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.1756+67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:7:0:0:33:1123:128.01:17.35:110.67:1.00:1.00:1.00:60:43.5:0:0:113:37:27:NM_007335.2(DLEC1) c.1756+67A>G,NM_007335.2(DLEC1) c.1756+67A>G:0.94,0.94:0.935611,0.935611 3 38135259 . G . . NT END=38136369;NT GT ./. 3 38136563 . G . . NT END=38137378;NT GT ./. 3 38137438 . G . . NT END=38138059;NT GT ./. 3 38137863 rs9845917 T C 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.5469,C/0.4531;Gene=DLEC1/NM_007335.2/1;CC=c.2172-197T>C;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.2172-197T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C:18:14:0:0:18:558:64.38:50.27:14.11:1.00:1.00:1.00:60:67.0:0:0:70:79:49:NM_007335.2(DLEC1) c.2172-197T>C,NM_007335.2(DLEC1) c.2172-197T>C:0.46,0.46:NOT_FOUND,NOT_FOUND 3 38137959 . G GT 13 rn VT=INS;SST=Single;DP=39;NP=2;Gene=DLEC1/NM_007335.2/1;CC=c.2172-91dupT;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.2172-91dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:G,GT:38:37:7:0:32,6:1031,195:0.00,12.77:0.00,11.88:0.00,0.90:0.00,0.88:0.00,0.99:0.00,0.78:60,60:36.2,38.3:0,1:0,0:44,55:106,96:32,29:-,NM_007335.2(DLEC1) c.2172-101_2172-100insT:-,NOT_FOUND:-,NOT_FOUND 3 38138229 . G . . NT END=38138672;NT GT ./. 3 38138767 . G . . NT END=38138997;NT GT ./. 3 38139129 . G . . NT END=38139234;NT GT ./. 3 38139394 . G . . NT END=38141776;NT GT ./. 3 38141511 rs114072569 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;Gene=DLEC1/NM_007335.2/1;CC=c.2725-266C>T;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.2725-266C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:C,T:9:9:0:0:5,4:158,116:0.00,10.80:0.00,10.80:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:19.0,40.5:0,0:0,0:45,28:106,122:23,7:-,NM_007335.2(DLEC1) c.2725-266C>T:-,0.0005:-,NOT_FOUND 3 38141917 . G . . NT END=38149074;NT GT ./. 3 38149229 . G . . NT END=38149895;NT GT ./. 3 38150007 . G . . NT END=38150922;NT GT ./. 3 38151054 . G . . NT END=38151580;NT GT ./. 3 38151731 rs12630114 T C 337 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.5423,C/0.4577;PC=1.000;Gene=DLEC1/NM_007335.2/1;CC=c.3402T>C;ProtCh=p.Y1134=;VC=Silent;Gene=DLEC1/NM_007337.2/0;CC=c.3402T>C;ProtCh=p.Y1134=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:89:58:0:0:89:2947:337.03:147.82:189.21:1.00:1.00:1.00:60:40.8:0:0:83:60:37:NM_007335.2(DLEC1) c.3402T>C (p.(=)),NM_007335.2(DLEC1) c.3402T>C (p.(=)):0.47,0.47:0.419102,0.419102 3 38151773 . G . . NT END=38153167;NT GT ./. 3 38153239 . G . . NT END=38153700;NT GT ./. 3 38153853 . G . . NT END=38155832;NT GT ./. 3 38155952 . G . . NT END=38156473;NT GT ./. 3 38156325 rs2073712 G A 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8139,A/0.1861;PC=0.006;Gene=DLEC1/NM_007335.2/1;CC=c.3786-149G>A;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.3786-149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:13:0:0:13:374:43.54:43.54:0.00:1.00:1.00:0.00:60:50.9:0:0:59:92:27:NM_007335.2(DLEC1) c.3786-149G>A,NM_007335.2(DLEC1) c.3786-149G>A:0.23,0.23:NOT_FOUND,NOT_FOUND 3 38156545 . G . . NT END=38157943;NT GT ./. 3 38158150 . G . . NT END=38158263;NT GT ./. 3 38158381 . G . . NT END=38158465;NT GT ./. 3 38158592 . G . . NT END=38158698;NT GT ./. 3 38158794 . G . . NT END=38159017;NT GT ./. 3 38159103 . G . . NT END=38159296;NT GT ./. 3 38159516 . G . . NT END=38161938;NT GT ./. 3 38159546 rs71323653 G A 334 nt VT=SNV;PN=C;NN=A;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.9804,A/0.01957;Gene=DLEC1/NM_007335.2/1;CC=c.4704+31G>A;VC=Intron;Gene=DLEC1/NM_007337.2/0;CC=c.4704+31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:95:24:0:0:94,1:2899,14:333.96,0.25:63.05,0.00:270.91,0.25:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,72.0:0,0:0,0:116,108:34,7:23,0:NM_007335.2(DLEC1) c.4704+31G>A,NM_007335.2(DLEC1) c.4704+31G>A:0.02,0.02:0.034545,0.034545 3 38162101 . G . . NT END=38163118;NT GT ./. 3 38163273 . G . . NT END=38163561;NT GT ./. 3 38163686 . G . . NT END=38163779;NT GT ./. 3 38164097 . A . . NT END=38164537;NT GT ./. 3 38164614 . C . . NT END=38167055;NT GT ./. 3 38167202 . C . . NT END=38167316;NT GT ./. 3 38167373 . C . . NT END=38167652;NT GT ./. 3 38168192 . C . . NT END=38169276;NT GT ./. 3 38169358 . C . . NT END=38170780;NT GT ./. 3 38170880 . C . . NT END=38173086;NT GT ./. 3 38173130 . C . . NT END=38173416;NT GT ./. 3 38173497 . C . . NT END=38175442;NT GT ./. 3 38175501 . C . . NT END=38178082;NT GT ./. 3 38178177 . C . . NT END=38178355;NT GT ./. 3 38178527 . T . . NT END=38180152;NT GT ./. 3 38180520 . G . . NT END=38181354;NT GT ./. 3 38181490 . G . . NT END=38181878;NT GT ./. 3 38182084 . G . . NT END=38182247;NT GT ./. 3 38182340 . G . . NT END=38182622;NT GT ./. 3 38182778 . A . . NT END=38207367;NT GT ./. 3 38207438 . G . . NT END=38224493;NT GT ./. 3 38224607 . G . . NT END=38232221;NT GT ./. 3 38232331 . G . . NT END=38234772;NT GT ./. 3 38234910 . G . . NT END=38240212;NT GT ./. 3 38240355 . G . . NT END=38257586;NT GT ./. 3 38257567 rs397958017 C CT 23 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=34;PC=0.042;Gene=OXSR1/NM_005109.2/1;CC=c.435-5dupT;VC=Intron;DM=OXSR1/Pkinase;DM=OXSR1/Pkinase;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:C,CT,D:27:25:8:7:14,8,5:474,261,230:0.00,23.48,13.82:0.00,18.00,6.79:0.00,5.48,7.02:0.00,0.98,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:26.4,43.6,16.4:0,0,2:0,0,0:69,52,53:80,83,97:11,19,30:-,NM_005109.2(OXSR1) c.435-20_435-19insT:-,NOT_FOUND:-,NOT_FOUND 3 38257643 . G . . NT END=38263068;NT GT ./. 3 38263179 . G . . NT END=38265302;NT GT ./. 3 38265405 . G . . NT END=38266061;NT GT ./. 3 38266196 . G . . NT END=38271177;NT GT ./. 3 38269036 rs72169557 CCACA C 10 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=8;Gene=OXSR1/NM_005109.2/1;CC=c.837-2103_837-2100delCACA;VC=Intron;DM=OXSR1/Pkinase;DM=OXSR1/Pkinase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:3:0:6:3:128:10.45:3.75:6.70:0.85:0.99:0.99:60:0.0:1:0:41:107:2:NM_005109.2(OXSR1) c.837-2141_837-2138delCACA,NM_005109.2(OXSR1) c.837-2141_837-2138delCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 38271227 . G . . NT END=38271855;NT GT ./. 3 38271922 . G . . NT END=38278329;NT GT ./. 3 38278453 . G . . NT END=38284233;NT GT ./. 3 38284270 . G . . NT END=38287565;NT GT ./. 3 38287713 . G . . NT END=38289158;NT GT ./. 3 38289224 . G . . NT END=38291456;NT GT ./. 3 38291510 . G . . NT END=38292893;NT GT ./. 3 38292963 . G . . NT END=38293818;NT GT ./. 3 38293884 . G . . NT END=38294307;NT GT ./. 3 38294383 . A . . NT END=38307351;NT GT ./. 3 38307730 . G . . NT END=38315762;NT GT ./. 3 38315867 . G . . NT END=38316094;NT GT ./. 3 38316250 . G . . NT END=38316479;NT GT ./. 3 38316649 . G . . NT END=38316860;NT GT ./. 3 38316982 . G . . NT END=38317068;NT GT ./. 3 38317164 . G . . NT END=38317372;NT GT ./. 3 38317588 . G . . NT END=38317777;NT GT ./. 3 38317887 . G . . NT END=38318402;NT GT ./. 3 38318619 . G . . NT END=38318862;NT GT ./. 3 38318957 . T . . NT END=38347517;NT GT ./. 3 38348034 . G . . NT END=38348744;NT GT ./. 3 38348686 rs753330 T G 160 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4706,G/0.5294;PC=0.005;Gene=SLC22A14/NM_004803.3/1;CC=c.517-59T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:G:42:38:0:0:42:1403:160.33:120.41:39.92:1.00:1.00:1.00:60:41.3:0:0:29:119:19:NM_004803.3(SLC22A14) c.517-59T>G,NM_004803.3(SLC22A14) c.517-59T>G:0.51,0.51:NOT_FOUND,NOT_FOUND 3 38348849 . G . . NT END=38349056;NT GT ./. 3 38349212 . G . . NT END=38350444;NT GT ./. 3 38350252 rs818820 C G 45 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.1723,G/0.8277;Gene=SLC22A14/NM_004803.3/1;CC=c.776-193C>G;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:394:45.12:45.12:0.00:1.00:1.00:0.00:60:49.2:0:0:44:105:22:NM_004803.3(SLC22A14) c.776-193C>G,NM_004803.3(SLC22A14) c.776-193C>G:0.82,0.82:NOT_FOUND,NOT_FOUND 3 38350479 rs818819 T C 354 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=T/0.1741,A/.,C/0.8259;Gene=SLC22A14/NM_004803.3/1;CC=c.810T>C;ProtCh=p.H270=;VC=Silent;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:100:76:0:0:1,98,1:10,3105,13:0.10,354.45,0.00:0.10,197.31,0.00:-0.00,157.14,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:74.0,76.0,187.0:0,1,0:0,0,0:40,79,14:111,68,136:0,31,0:NM_004803.3(SLC22A14) c.810T>C (p.(=)),NM_004803.3(SLC22A14) c.810T>C (p.(=)):0.82,0.82:0.866216,0.866216 3 38350519 rs818818 G A 353 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=G/0.1745,A/0.8255;Gene=SLC22A14/NM_004803.3/1;CC=c.850G>A;ProtCh=p.V284M;VC=Missense;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:95:71:0:0:95:3077:352.86:174.65:178.21:1.00:1.00:1.00:60:95.5:0:0:83:66:35:NM_004803.3(SLC22A14) c.850G>A (p.Val284Met),NM_004803.3(SLC22A14) c.850G>A (p.Val284Met):0.82,0.82:0.866062,0.866062 3 38350543 rs818817 A G 305 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.1637,G/0.8363;PC=0.002;Gene=SLC22A14/NM_004803.3/1;CC=c.874A>G;ProtCh=p.S292G;VC=Missense;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:87:61:0:0:1,86:11,2663:0.00,305.14:0.00,137.20:0.00,167.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,96.2:0,0:0,0:55,81:95,64:0,36:NM_004803.3(SLC22A14) c.874A>G (p.Ser292Gly),NM_004803.3(SLC22A14) c.874A>G (p.Ser292Gly):0.83,0.83:0.873751,0.873751 3 38350614 . G . . NT END=38354489;NT GT ./. 3 38350630 rs704929 C A 189 nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.1743,A/0.8257;Gene=SLC22A14/NM_004803.3/1;CC=c.944+17C>A;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:A:49:20:0:0:49:1657:189.01:45.94:143.07:1.00:1.00:1.00:60:63.1:0:0:84:59:30:NM_004803.3(SLC22A14) c.944+17C>A,NM_004803.3(SLC22A14) c.944+17C>A:0.82,0.82:0.866062,0.866062 3 38354227 rs194708 A T 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5156,T/0.4844;PC=0.001;Gene=SLC22A14/NM_004803.3/1;CC=c.945-263A>T;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:245:28.67:28.67:0.00:1.00:1.00:0.00:60:35.9:0:0:19:132:11:NM_004803.3(SLC22A14) c.945-263A>T,NM_004803.3(SLC22A14) c.945-263A>T:0.45,0.45:NOT_FOUND,NOT_FOUND 3 38354390 rs695939 A G 240 nt VT=SNV;PN=C;NN=T;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.7881,G/0.2119;Gene=SLC22A14/NM_004803.3/1;CC=c.945-100A>G;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:G,T:69:65:0:0:68,1:2086,12:240.40,0.21:192.76,0.00:47.63,0.21:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,12.0:0,0:0,0:42,0:108,138:18,0:NM_004803.3(SLC22A14) c.945-100A>G,NM_004803.3(SLC22A14) c.945-100A>G:0.23,0.23:NOT_FOUND,NOT_FOUND 3 38354611 . G . . NT END=38354878;NT GT ./. 3 38354977 . G . . NT END=38355217;NT GT ./. 3 38355176 rs374493931 T TGTGTGTGTGTGTGTGCGCGCGC 42 sb;idl,nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;Gene=SLC22A14/NM_004803.3/1;CC=c.1164-41_1164-40insTGTGTGTGTGTGTGCGCGCGCG;VC=Intron;DM=SLC22A14/Sugar_tr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,T,TGTGTGTGTGTGTGTGCGCGCGC:18:22:19:0:2,3,13:66,96,583:5.28,0.00,41.72:5.32,0.00,42.06:-0.04,0.00,-0.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:33.0,0.0,7.1:0,0,6:0,0,0:1,134,48:150,2,101:0,6,10:-,NM_004803.3(SLC22A14) c.1164-42_1164-41insGTGTGTGTGTGTGTGCGCGCGC:-,NOT_FOUND:-,NOT_FOUND 3 38355433 . G . . NT END=38357048;NT GT ./. 3 38355509 rs696253 C T 115 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.4227,T/0.5773;Gene=SLC22A14/NM_004803.3/1;CC=c.1378+77C>T;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:T:30:3:0:0:30:1005:114.81:7.35:107.45:1.00:1.00:1.00:60:40.1:0:0:100:49:31:NM_004803.3(SLC22A14) c.1378+77C>T,NM_004803.3(SLC22A14) c.1378+77C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 3 38355615 rs696254 T C 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.01817,C/0.9818;Gene=SLC22A14/NM_004803.3/1;CC=c.1378+183T>C;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:224:26.21:0.00:26.21:1.00:0.00:1.00:60:74.0:0:0:66:83:40:NM_004803.3(SLC22A14) c.1378+183T>C,NM_004803.3(SLC22A14) c.1378+183T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 38355715 rs194707 A G 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8187,G/0.1813;Gene=SLC22A14/NM_004803.3/1;CC=c.1378+283A>G;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:155:17.88:0.00:17.88:1.00:0.00:1.00:60:92.8:0:0:109:40:41:NM_004803.3(SLC22A14) c.1378+283A>G,NM_004803.3(SLC22A14) c.1378+283A>G:0.21,0.21:NOT_FOUND,NOT_FOUND 3 38356868 rs194705 T C 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.3978,C/0.6022;Gene=SLC22A14/NM_004803.3/1;CC=c.1379-181T>C;VC=Intron;DM=SLC22A14/Sugar_tr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:14:0:0:14:430:49.64:49.64:0.00:1.00:1.00:0.00:60:40.1:0:0:36:115:23:NM_004803.3(SLC22A14) c.1379-181T>C,NM_004803.3(SLC22A14) c.1379-181T>C:0.63,0.63:NOT_FOUND,NOT_FOUND 3 38357203 . G . . NT END=38357814;NT GT ./. 3 38358016 . G . . NT END=38359688;NT GT ./. 3 38359741 . G . . NT END=38388359;NT GT ./. 3 38359970 rs697333 T G 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.07368,G/0.9263;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:34.8:0:0:127:23:7:chr3 g.38359969T>G (intergenic),chr3 g.38359969T>G (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 3 38370556 rs196364 A G 135 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.7362,G/0.2638;PC=0.042 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:21:0:0:37:1173:134.87:54.47:80.40:1.00:1.00:1.00:60:40.8:0:0:93:58:21:chr3 g.38370555A>G (intergenic),chr3 g.38370555A>G (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 3 38388064 rs2234601 G T 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.05491,T/0.9451 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:257:29.49:29.49:0.00:1.00:1.00:0.00:60:59.5:0:0:21:130:8:NM_005108.3(XYLB) c.-109-u187G>T,NM_005108.3(XYLB) c.-109-u187G>T:0.96,0.96:NOT_FOUND,NOT_FOUND 3 38388417 . G . . NT END=38390040;NT GT ./. 3 38390020 rs2615631 C A 207 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.05431,A/0.9457;Gene=XYLB/NM_005108.3/1;CC=c.58-21C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:A:55:47:0:0:55:1805:206.68:141.07:65.61:1.00:1.00:1.00:60:45.9:0:0:49:86:33:NM_005108.3(XYLB) c.58-21C>A,NM_005108.3(XYLB) c.58-21C>A:0.96,0.96:0.948639,0.948639 3 38390124 . G . . NT END=38401829;NT GT ./. 3 38401677 rs818851 C T 49 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.1332,T/0.8668;Gene=XYLB/NM_005108.3/1;CC=c.141-153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:417:48.74:48.74:0.00:1.00:1.00:0.00:60:50.1:0:0:46:105:18:NM_005108.3(XYLB) c.141-153C>T,NM_005108.3(XYLB) c.141-153C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 3 38401839 rs818850 T C 218 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.03674,C/0.9633;PC=0.011;Gene=XYLB/NM_005108.3/1;CC=c.150T>C;ProtCh=p.G50=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:C:58:46:0:0:58:1902:217.72:123.67:94.06:1.00:1.00:1.00:60:48.2:0:0:76:72:33:NM_005108.3(XYLB) c.=,NM_005108.3(XYLB) c.=:0.97,0.97:0.964401,0.964401 3 38401900 . G . . NT END=38404427;NT GT ./. 3 38401918 rs818849 A G 141 nt VT=SNV;PN=T;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.09844,C/.,G/0.9016,T/.;Gene=XYLB/NM_005108.3/1;CC=c.210+19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:G:37:23:0:0:37:1237:141.31:52.79:88.53:1.00:1.00:1.00:60:71.5:0:0:99:51:24:NM_005108.3(XYLB) c.210+19A>G,NM_005108.3(XYLB) c.210+19A>G:0.9,0.9:0.8829,0.8829 3 38402007 rs818848 T A 49 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.09844,A/0.9016;PC=0.001;Gene=XYLB/NM_005108.3/1;CC=c.210+108T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:0:0:0:14:427:49.37:0.00:49.37:1.00:0.00:1.00:60:95.2:0:0:103:47:26:NM_005108.3(XYLB) c.210+108T>A,NM_005108.3(XYLB) c.210+108T>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 38402027 rs861767 G A 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.03674,A/0.9633;Gene=XYLB/NM_005108.3/1;CC=c.210+128G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:0:0:0:10:349:39.67:0.00:39.67:1.00:0.00:1.00:60:82.0:0:0:107:43:23:NM_005108.3(XYLB) c.210+128G>A,NM_005108.3(XYLB) c.210+128G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 38404472 rs17118 C A 334 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=C/0.765,A/0.235;PC=0.986;Gene=XYLB/NM_005108.3/1;CC=c.255C>A;ProtCh=p.D85E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:89:62:0:0:89:2911:333.52:152.43:181.09:1.00:1.00:1.00:60:36.4:0:0:76:64:36:NM_005108.3(XYLB) c.255C>A (p.Asp85Glu),NM_005108.3(XYLB) c.255C>A (p.Asp85Glu):0.26,0.26:0.281178,0.281178 3 38404509 . G . . NT END=38406689;NT GT ./. 3 38406478 rs704941 A G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4651,G/0.5349;Gene=XYLB/NM_005108.3/1;CC=c.292-212A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:238:27.14:27.14:0.00:1.00:1.00:0.00:60:46.9:0:0:29:122:26:NM_005108.3(XYLB) c.292-212A>G,NM_005108.3(XYLB) c.292-212A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 3 38406648 rs704942 T C 167 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.06829,C/0.9317;Gene=XYLB/NM_005108.3/1;CC=c.292-42T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:40:0:0:46:1449:166.83:113.81:53.01:1.00:1.00:1.00:60:43.8:0:0:43:101:26:NM_005108.3(XYLB) c.292-42T>C,NM_005108.3(XYLB) c.292-42T>C:0.93,0.93:0.915654,0.915654 3 38406773 rs704943 G T 253 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.1034,T/0.8966;PC=0.776;Gene=XYLB/NM_005108.3/1;CC=c.375G>T;ProtCh=p.L125=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:68:48:0:0:68:2204:252.77:120.97:131.80:1.00:1.00:1.00:60:69.4:0:0:71:77:24:NM_005108.3(XYLB) c.375G>T (p.(=)),NM_005108.3(XYLB) c.375G>T (p.(=)):0.9,0.9:0.878287,0.878287 3 38406777 . G . . NT END=38407098;NT GT ./. 3 38406793 rs2234608 T G 237 nt VT=SNV;PN=T;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.2292,G/0.7708;Gene=XYLB/NM_005108.3/1;CC=c.378+17T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:G:63:39:0:0:63:2067:236.74:100.94:135.80:1.00:1.00:1.00:60:69.2:0:0:91:59:24:NM_005108.3(XYLB) c.378+17T>G,NM_005108.3(XYLB) c.378+17T>G:0.8,0.8:0.808627,0.808627 3 38407228 . G . . NT END=38408298;NT GT ./. 3 38408107 rs847879 T C 31 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1012,C/0.8988;Gene=XYLB/NM_005108.3/1;CC=c.508-192T>C;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:274:31.22:31.22:0.00:1.00:1.00:0.00:60:38.9:0:0:31:119:14:NM_005108.3(XYLB) c.508-192T>C,NM_005108.3(XYLB) c.508-192T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 3 38408248 rs704946 G A 63 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.102,A/0.898;PC=0.381;Gene=XYLB/NM_005108.3/1;CC=c.508-51G>A;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:A:19:15:0:0:19:546:63.45:38.50:24.95:1.00:1.00:1.00:60:60.0:0:0:35:116:25:NM_005108.3(XYLB) c.508-51G>A,NM_005108.3(XYLB) c.508-51G>A:0.9,0.9:0.882131,0.882131 3 38408361 rs843890 G A 126 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.1022,A/0.8978,T/.;PC=0.001;Gene=XYLB/NM_005108.3/1;CC=c.570G>A;ProtCh=p.T190=;VC=Silent;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:18:0:0:34:1102:126.34:43.80:82.53:1.00:1.00:1.00:60:58.1:0:0:84:61:33:NM_005108.3(XYLB) c.570G>A (p.(=)),NM_005108.3(XYLB) c.570G>A (p.(=)):0.9,0.9:0.881978,0.881978 3 38408365 . G . . NT END=38409675;NT GT ./. 3 38408459 rs2234617 A G 51 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1038,G/0.8962;Gene=XYLB/NM_005108.3/1;CC=c.573+95A>G;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:1:0:0:14:442:50.83:1.94:48.89:1.00:1.00:1.00:60:74.1:0:0:121:30:18:NM_005108.3(XYLB) c.573+95A>G,NM_005108.3(XYLB) c.573+95A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 38408536 rs1093684 G A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.102,A/0.898;PC=0.001;Gene=XYLB/NM_005108.3/1;CC=c.573+172G>A;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:174:20.23:0.00:20.23:1.00:0.00:1.00:60:78.2:0:0:33:117:9:NM_005108.3(XYLB) c.573+172G>A,NM_005108.3(XYLB) c.573+172G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 38408560 rs1104096 A T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2416,T/0.7584;PC=0.001;Gene=XYLB/NM_005108.3/1;CC=c.573+196A>T;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:140:15.91:0.00:15.91:1.00:0.00:1.00:60:67.5:0:0:50:100:2:NM_005108.3(XYLB) c.573+196A>T,NM_005108.3(XYLB) c.573+196A>T:0.79,0.79:NOT_FOUND,NOT_FOUND 3 38409600 rs704947 T G 84 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.102,G/0.898;Gene=XYLB/NM_005108.3/1;CC=c.574-76T>G;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:G:22:20:0:1:22:737:84.19:64.30:19.88:1.00:1.00:1.00:60:38.0:0:0:36:111:28:NM_005108.3(XYLB) c.574-76T>G,NM_005108.3(XYLB) c.574-76T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 38409749 . G . . NT END=38411546;NT GT ./. 3 38411377 rs818832 G A 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1006,A/0.8994;Gene=XYLB/NM_005108.3/1;CC=c.647-170G>A;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:216:24.94:24.94:0.00:1.00:1.00:0.00:60:35.3:0:0:41:110:26:NM_005108.3(XYLB) c.647-170G>A,NM_005108.3(XYLB) c.647-170G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 38411666 . G . . NT END=38413893;NT GT ./. 3 38411731 rs71085317 G GCACACACACACA 26 idl,nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6334,GCA/.,GCACACA/0.002396,GCACACACA/0.06669,GCACACACACA/0.0607,GCACACACACACA/0.2368;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=4;NP=48;Gene=XYLB/NM_005108.3/1;CC=c.765+93_765+94insACACACACACAC;VC=Intron;DM=XYLB/FGGY_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCACACACACACA:20:10:15:0:11,9:293,449:0.00,26.17:0.00,7.34:0.00,18.83:0.00,0.99:0.00,0.97:0.00,1.00:60,60:25.6,18.6:0,6:0,0:113,63:18,87:26,10:-,NM_005108.3(XYLB) c.765+66_765+67insCACACACACACA:-,NOT_FOUND:-,NOT_FOUND 3 38413802 . CT C 11 idl,rn VT=DEL;SST=Single;DP=33;PC=0.011;Gene=XYLB/NM_005108.3/1;CC=c.766-333delT;VC=Intron;DM=XYLB/FGGY_N;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:CT,I,C:32:32:4:6:23,4,5:674,126,173:0.00,9.56,10.56:0.00,9.70,10.74:0.00,-0.14,-0.18:0.00,0.00,0.79:0.00,0.00,0.98:0.00,0.00,0.49:60,60,60:41.1,44.0,53.2:0,0,1:0,0,0:47,57,61:104,93,89:31,29,32:-,NM_005108.3(XYLB) c.766-343delT:-,NOT_FOUND:-,NOT_FOUND 3 38413880 rs704952 T C 288 nt VT=SNV;PN=A;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.0623,C/0.9377;Gene=XYLB/NM_005108.3/1;CC=c.766-266T>C;VC=Intron;DM=XYLB/FGGY_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:81:70:0:0:81:2495:287.76:213.24:74.52:1.00:1.00:1.00:60:43.1:0:0:51:98:23:NM_005108.3(XYLB) c.766-266T>C,NM_005108.3(XYLB) c.766-266T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 3 38414035 . G . . NT END=38414145;NT GT ./. 3 38414228 . G . . NT END=38415952;NT GT ./. 3 38415994 . G . . NT END=38416634;NT GT ./. 3 38416079 rs77540883 C T 169 nt VT=SNV;PN=A;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.981,T/0.01897;PC=0.002;Gene=XYLB/NM_005108.3/1;CC=c.888+86C>T;VC=Intron;DM=XYLB/FGGY_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:T:45:8:0:0:45:1476:169.06:15.51:153.55:1.00:1.00:1.00:60:37.1:0:0:104:43:30:NM_005108.3(XYLB) c.888+86C>T,NM_005108.3(XYLB) c.888+86C>T:0.02,0.02:NOT_FOUND,NOT_FOUND 3 38416751 . G . . NT END=38417607;NT GT ./. 3 38417724 . G . . NT END=38418408;NT GT ./. 3 38418483 . G . . NT END=38420736;NT GT ./. 3 38420834 . G . . NT END=38436995;NT GT ./. 3 38421098 rs196377 C G 20 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2234,G/0.7766;Gene=XYLB/NM_005108.3/1;CC=c.1291+265C>G;VC=Intron;DM=XYLB/FGGY_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:175:20.36:0.00:20.36:1.00:0.00:1.00:60:57.7:0:0:105:45:28:NM_005108.3(XYLB) c.1291+265C>G,NM_005108.3(XYLB) c.1291+265C>G:0.74,0.74:NOT_FOUND,NOT_FOUND 3 38437055 . G . . NT END=38438562;NT GT ./. 3 38438372 rs1858740 T C 37 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6426,C/0.3574;Gene=XYLB/NM_005108.3/1;CC=c.1351-191T>C;VC=Intron;DM=XYLB/FGGY_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:11:0:0:11:319:37.13:37.13:0.00:1.00:1.00:0.00:60:33.0:0:0:59:90:39:NM_005108.3(XYLB) c.1351-191T>C,NM_005108.3(XYLB) c.1351-191T>C:0.35,0.35:NOT_FOUND,NOT_FOUND 3 38438651 . G . . NT END=38442381;NT GT ./. 3 38442477 . G . . NT END=38454426;NT GT ./. 3 38442490 rs2070488 G A 194 nt VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.6378,A/0.3622;Gene=XYLB/NM_005108.3/1;CC=c.1533+14G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A:50:22:0:0:50:1700:193.77:47.68:146.10:1.00:1.00:1.00:60:44.0:0:0:98:51:17:NM_005108.3(XYLB) c.1533+14G>A,NM_005108.3(XYLB) c.1533+14G>A:0.36,0.36:0.44564,0.44564 3 38454505 . A . . NT END=38495813;NT GT ./. 3 38495866 . G . . NT END=38501063;NT GT ./. 3 38496065 rs3749386 C T 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.6793,T/0.3207;Gene=ACVR2B-AS1/NR_028389.1/0;VC=NonCoding;Gene=ACVR2B/NM_001106.3/1;CC=c.52+200C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:310:36.16:0.00:36.16:1.00:0.00:1.00:60:38.8:0:0:137:14:6:NR_028389.1(ACVR2B-AS1) n.247G>A,NR_028389.1(ACVR2B-AS1) n.247G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 3 38501181 . G . . NT END=38518777;NT GT ./. 3 38518986 . G . . NT END=38519351;NT GT ./. 3 38519424 rs2070489 A G 306 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.5196,G/0.4804;PC=1.000;Gene=ACVR2B/NM_001106.3/1;CC=c.333A>G;ProtCh=p.E111=;VC=Silent;DM=ACVR2B/Activin_recp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:81:60:0:0:81:2674:305.81:170.04:135.77:1.00:1.00:1.00:60:44.0:0:0:84:62:24:NM_001106.3(ACVR2B) c.333A>G (p.(=)),NM_001106.3(ACVR2B) c.333A>G (p.(=)):0.48,0.48:0.522759,0.522759 3 38519462 . G . . NT END=38519631;NT GT ./. 3 38519784 . G . . NT END=38519865;NT GT ./. 3 38520010 . G . . NT END=38520618;NT GT ./. 3 38520763 . G . . NT END=38521168;NT GT ./. 3 38521156 rs13097628 T C 205 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.6436,C/0.3564;PC=0.975;Gene=ACVR2B/NM_001106.3/1;CC=c.811-13T>C;VC=Intron;DM=ACVR2B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:163:C,G:61:47:0:0:60,1:1770,6:204.81,0.05:144.09,0.05:60.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.0,53.0:0,0:0,0:61,135:87,16:32,0:NM_001106.3(ACVR2B) c.811-13T>C,NM_001106.3(ACVR2B) c.811-13T>C:0.36,0.36:0.441489,0.441489 3 38521318 . G . . NT END=38522841;NT GT ./. 3 38521425 rs4407366 C T 133 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.3832,T/0.6168;Gene=ACVR2B/NM_001106.3/1;CC=c.959+108C>T;VC=Intron;DM=ACVR2B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T:38:3:0:0:38:1151:133.08:5.83:127.25:1.00:1.00:1.00:60:40.8:0:0:117:33:22:NM_001106.3(ACVR2B) c.959+108C>T,NM_001106.3(ACVR2B) c.959+108C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 3 38522957 . G . . NT END=38523688;NT GT ./. 3 38523495 rs4679053 G T 76 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6468,T/0.3532;Gene=ACVR2B/NM_001106.3/1;CC=c.1075-194G>T;VC=Intron;DM=ACVR2B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:21:0:0:21:661:76.06:76.06:0.00:1.00:1.00:0.00:60:40.1:0:0:38:112:21:NM_001106.3(ACVR2B) c.1075-194G>T,NM_001106.3(ACVR2B) c.1075-194G>T:0.36,0.36:NOT_FOUND,NOT_FOUND 3 38523828 . G . . NT END=38523920;NT GT ./. 3 38524052 . G . . NT END=38524628;NT GT ./. 3 38524311 rs7373828 A G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.6134,G/0.3866;Gene=ACVR2B/NM_001106.3/1;CC=c.1344+260A>G;VC=Intron;DM=ACVR2B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:3:0:0:7:233:26.64:10.93:15.71:1.00:1.00:1.00:60:61.7:0:0:95:55:38:NM_001106.3(ACVR2B) c.1344+260A>G,NM_001106.3(ACVR2B) c.1344+260A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 3 38524328 rs7372849 G C 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6134,C/0.3866;Gene=ACVR2B/NM_001106.3/1;CC=c.1344+277G>C;VC=Intron;DM=ACVR2B/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:3:0:0:6:199:22.76:12.03:10.73:1.00:1.00:1.00:60:66.2:0:0:99:51:31:NM_001106.3(ACVR2B) c.1344+277G>C,NM_001106.3(ACVR2B) c.1344+277G>C:0.37,0.37:NOT_FOUND,NOT_FOUND 3 38524742 rs1046048 C T 314 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=C/0.6468,T/0.3532;PC=1.000;Gene=ACVR2B/NM_001106.3/1;CC=c.1458C>T;ProtCh=p.N486=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:87:54:0:0:1,1,85:12,9,2760:0.17,0.00,314.40:0.17,0.00,133.22:0.00,0.00,181.18:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:65.0,88.0,40.6:0,0,0:0,0,0:134,88,70:17,31,64:0,0,40:NM_001106.3(ACVR2B) c.1458C>T (p.(=)),NM_001106.3(ACVR2B) c.1458C>T (p.(=)):0.36,0.36:0.438567,0.438567 3 38524824 . G . . NT END=38537858;NT GT ./. 3 38538566 . CA C 23 idl,rn VT=DEL;SST=Single;DP=55;Gene=EXOG/NM_001145464.1/0;CC=c.163+561delA;VC=Intron;Gene=EXOG/NM_005107.3/1;CC=c.164-538delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:A,CA,I,C:55:46:4:10:3,39,4,9:30,1228,129,287:0.22,0.00,8.98,22.90:-0.69,0.00,8.01,15.19:0.91,0.00,0.98,7.71:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.96:60,60,60,60:88.0,20.4,8.5,11.3:0,0,0,0:0,0,0,0:107,70,41,50:44,76,102,94:16,38,10,30:-,NM_005107.3(EXOG) c.163+546delA:-,NOT_FOUND:-,NOT_FOUND 3 38539095 . CT C 16 idl,rn VT=DEL;SST=Single;DP=61;NP=4;Gene=EXOG/NM_001145464.1/0;CC=c.163+1089delT;VC=Intron;Gene=EXOG/NM_005107.3/1;CC=c.164-10delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:CT,T,I,C:58:32:3:11:46,2,3,7:1314,42,96,312:0.00,1.80,6.11,15.64:0.00,-0.30,4.39,5.96:0.00,2.10,1.72,9.68:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.94:0.00,0.00,0.00,0.97:60,60,60,60:27.8,48.0,55.0,32.6:0,1,0,3:0,0,0,0:71,42,55,77:78,102,96,73:42,26,32,36:-,NM_005107.3(EXOG) c.164-24delT:-,NOT_FOUND:-,NOT_FOUND 3 38539270 . G . . NT END=38542845;NT GT ./. 3 38542986 . G . . NT END=38545105;NT GT ./. 3 38545183 . G . . NT END=38548344;NT GT ./. 3 38548460 . G . . NT END=38564663;NT GT ./. 3 38564881 . g . . NT END=38565391;NT GT ./. 3 38567174 . c . . NT END=38567439;NT GT ./. 3 38567797 . G . . NT END=38591811;NT GT ./. 3 38593050 . C . . NT END=38595769;NT GT ./. 3 38593128 . TG T 8 rn VT=DEL;SST=Single;DP=32;NP=219;PC=0.005;Gene=SCN5A/NM_000335.4/1;CC=c.4811-80delC;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.4814-80delC;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.4760-80delC;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.4814-80delC;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.4715-80delC;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.4652-80delC;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,G,TG,T:32:11:0:4:1,1,26,4:11,13,652,114:-0.04,0.08,0.00,8.20:-0.09,-0.09,0.00,3.69:0.05,0.17,0.00,4.52:0.00,0.00,0.00,0.63:0.00,0.00,0.00,0.70:0.00,0.00,0.00,0.92:60,60,60,60:140.0,13.0,36.8,36.0:0,0,0,0:0,0,0,0:116,51,114,115:35,98,36,36:0,0,18,8:-,NM_000335.4(SCN5A) c.4811-80delC:-,NOT_FOUND:-,NOT_FOUND 3 38596041 . C . . NT END=38597146;NT GT ./. 3 38597252 . G . . NT END=38597931;NT GT ./. 3 38598070 . C . . NT END=38598721;NT GT ./. 3 38598776 . C . . NT END=38601637;NT GT ./. 3 38601920 . C . . NT END=38603905;NT GT ./. 3 38604029 . C . . NT END=38607899;NT GT ./. 3 38608074 . C . . NT END=38616787;NT GT ./. 3 38616943 . C . . NT END=38618151;NT GT ./. 3 38617126 rs6599213 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.04673,G/0.9533;Gene=SCN5A/NM_000335.4/1;CC=c.3509-184T>C;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.3512-184T>C;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.3512-184T>C;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.3512-184T>C;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.3509-184T>C;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.3350-184T>C;VC=Intron;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:195:22.79:0.00:22.79:1.00:0.00:1.00:60:73.4:0:0:100:51:31:NM_000335.4(SCN5A) c.3509-184T>C,NM_000335.4(SCN5A) c.3509-184T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 3 38618273 . C . . NT END=38620824;NT GT ./. 3 38620987 . C . . NT END=38622421;NT GT ./. 3 38622467 rs7430407 T C 423 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=in-clinvar;PAF=T/0.07688,C/0.9231,G/.;PC=0.001;Gene=SCN5A/NM_000335.4/1;CC=c.3183A>G;ProtCh=p.E1061=;VC=Silent;Gene=SCN5A/NM_001099404.1/0;CC=c.3183A>G;ProtCh=p.E1061=;VC=Silent;Gene=SCN5A/NM_001099405.1/0;CC=c.3183A>G;ProtCh=p.E1061=;VC=Silent;Gene=SCN5A/NM_198056.2/0;CC=c.3183A>G;ProtCh=p.E1061=;VC=Silent;Gene=SCN5A/NM_001160160.1/0;CC=c.3183A>G;ProtCh=p.E1061=;VC=Silent;Gene=SCN5A/NM_001160161.1/0;CC=c.3183A>G;ProtCh=p.E1061=;VC=Silent;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc;DM=SCN5A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:114:100:0:0:113,1:3710,11:422.97,0.00:296.67,0.00:126.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.3,30.0:0,0:0,0:51,51:93,99:32,0:NM_000335.4(SCN5A) c.3183A>G (p.(=)),NM_000335.4(SCN5A) c.3183A>G (p.(=)):0.92,0.92:0.88497,0.88497 3 38622863 . C . . NT END=38627181;NT GT ./. 3 38627153 rs41311517 G GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 35 sb,nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.09026,GGTGTGTGTGTGTGT/0.01518,GGTGTGTGTGTGTGTGTGTGT/.,GGTGTGTGTGTGTGTGTGTGTGT/0.04093,GGTGTGTGTGTGTGTGTGTGTGTGT/0.2111,GGTGTGTGTGTGTGTGTGTGTGTGTGT/0.2827,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT/0.3598;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.024;Gene=SCN5A/NM_000335.4/1;CC=c.2787+28_2787+29insACACACACACACACACACACACACACAC;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.2787+28_2787+29insACACACACACACACACACACACACACAC;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.2787+28_2787+29insACACACACACACACACACACACACACAC;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.2787+28_2787+29insACACACACACACACACACACACACACAC;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.2787+28_2787+29insACACACACACACACACACACACACACAC;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.2787+28_2787+29insACACACACACACACACACACACACACAC;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT:25:25:13:0:12,1,12:393,34,400:0.00,2.26,35.17:0.00,1.05,33.95:0.00,1.20,1.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.92:60,60,60:17.9,34.0,11.2:0,0,1:0,0,0:116,0,55:12,115,94:10,0,8:-,NM_000335.4(SCN5A) c.2787+28_2787+29insACACACACACACACACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 38627533 . C . . NT END=38628890;NT GT ./. 3 38627629 rs7645173 A G 102 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.0595,G/0.9405;Gene=SCN5A/NM_000335.4/1;CC=c.2437-97T>C;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.2437-97T>C;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.2437-97T>C;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.2437-97T>C;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.2437-97T>C;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.2437-97T>C;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:2:0:0:28:882:101.53:3.88:97.66:1.00:1.00:1.00:60:39.2:0:0:107:43:31:NM_000335.4(SCN5A) c.2437-97T>C,NM_000335.4(SCN5A) c.2437-97T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 3 38627658 rs72579928 T TCC 48 nt VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4738,TC/0.2412,TCC/0.2849;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4738,TC/0.2412,TCC/0.2849;DB;DBA=NA;PAF=T/0.4738,TCC/0.2849,TCCC/.;NP=21;NP=51;Gene=SCN5A/NM_000335.4/1;CC=c.2437-128_2437-127dupGG;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.2437-128_2437-127dupGG;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.2437-128_2437-127dupGG;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.2437-128_2437-127dupGG;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.2437-128_2437-127dupGG;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.2437-128_2437-127dupGG;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:T,TCC:19:0:16:0:4,15:126,481:0.00,47.66:0.00,0.00:0.00,47.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:50.2,40.0:0,1:0,0:145,103:5,48:4,19:-,NM_000335.4(SCN5A) c.2437-127_2437-126insGG:-,NOT_FOUND:-,NOT_FOUND 3 38628642 rs11711097 A G 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.4355,G/0.5645;Gene=SCN5A/NM_000335.4/1;CC=c.2436+249T>C;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.2436+249T>C;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.2436+249T>C;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.2436+249T>C;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.2436+249T>C;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.2436+249T>C;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:117:13.58:13.58:0.00:1.00:1.00:0.00:60:64.8:0:0:87:64:41:NM_000335.4(SCN5A) c.2436+249T>C,NM_000335.4(SCN5A) c.2436+249T>C:0.59,0.59:NOT_FOUND,NOT_FOUND 3 38629065 . C . . NT END=38639219;NT GT ./. 3 38639459 . C . . NT END=38640408;NT GT ./. 3 38640542 . C . . NT END=38645202;NT GT ./. 3 38645575 . C . . NT END=38646219;NT GT ./. 3 38646400 . C . . NT END=38647441;NT GT ./. 3 38646625 rs55899887 C T 28 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.594,T/0.406;Gene=SCN5A/NM_000335.4/1;CC=c.1339-226G>A;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.1339-226G>A;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.1339-226G>A;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.1339-226G>A;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.1339-226G>A;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.1339-226G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:245:28.28:0.00:28.28:1.00:0.00:1.00:60:42.4:0:0:115:34:14:NM_000335.4(SCN5A) c.1339-226G>A,NM_000335.4(SCN5A) c.1339-226G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 38647640 . C . . NT END=38648159;NT GT ./. 3 38647780 rs6770569 G C 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5387,C/0.4613;Gene=SCN5A/NM_000335.4/1;CC=c.1141-141C>G;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.1141-141C>G;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.1141-141C>G;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.1141-141C>G;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.1141-141C>G;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.1141-141C>G;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:1:0:0:16:545:62.13:3.78:58.35:1.00:1.00:1.00:60:41.2:0:0:116:34:22:NM_000335.4(SCN5A) c.1141-141C>G,NM_000335.4(SCN5A) c.1141-141C>G:0.45,0.45:NOT_FOUND,NOT_FOUND 3 38648062 rs6599222 C T 124 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.155,T/0.845;Gene=SCN5A/NM_000335.4/1;CC=c.1140+98G>A;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.1140+98G>A;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.1140+98G>A;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.1140+98G>A;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.1140+98G>A;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.1140+98G>A;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:T:35:35:0:0:35:1072:123.69:105.47:18.22:1.00:1.00:1.00:60:55.4:0:0:61:90:37:NM_000335.4(SCN5A) c.1140+98G>A,NM_000335.4(SCN5A) c.1140+98G>A:0.83,0.83:NOT_FOUND,NOT_FOUND 3 38648302 . C . . NT END=38649641;NT GT ./. 3 38649706 . C . . NT END=38651224;NT GT ./. 3 38649924 rs9873213 T C 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2065,C/0.7935;Gene=SCN5A/NM_000335.4/1;CC=c.935-219A>G;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.935-219A>G;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.935-219A>G;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.935-219A>G;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.935-219A>G;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.935-219A>G;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:186:21.46:0.00:21.46:1.00:0.00:1.00:60:31.0:0:0:60:89:22:NM_000335.4(SCN5A) c.935-219A>G,NM_000335.4(SCN5A) c.935-219A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 3 38651456 . C . . NT END=38655233;NT GT ./. 3 38654971 rs9851962 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2015,A/0.7985;Gene=SCN5A/NM_000335.4/1;CC=c.703+263C>T;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.703+495C>T;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.703+495C>T;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.703+263C>T;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.703+495C>T;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.703+495C>T;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:126:14.51:14.51:0.00:1.00:1.00:0.00:60:40.2:0:0:33:118:12:NM_000335.4(SCN5A) c.703+263C>T,NM_000335.4(SCN5A) c.703+263C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 3 38655326 . C . . NT END=38655465;NT GT ./. 3 38655558 . C . . NT END=38662333;NT GT ./. 3 38662463 . C . . NT END=38663890;NT GT ./. 3 38663707 rs6781731 C T 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5012,T/0.4988;Gene=SCN5A/NM_000335.4/1;CC=c.482+184G>A;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.482+184G>A;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.482+184G>A;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.482+184G>A;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.482+184G>A;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.482+184G>A;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:118:13.68:13.68:0.00:1.00:1.00:0.00:60:38.2:0:0:71:78:43:NM_000335.4(SCN5A) c.482+184G>A,NM_000335.4(SCN5A) c.482+184G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 3 38663981 . G . . NT END=38671801;NT GT ./. 3 38664164 rs7431305 T G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3087,G/0.6913;Gene=SCN5A/NM_000335.4/1;CC=c.393-184A>C;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.393-184A>C;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.393-184A>C;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.393-184A>C;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.393-184A>C;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.393-184A>C;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:216:24.91:0.00:24.91:1.00:0.00:1.00:60:42.9:0:0:79:72:30:NM_000335.4(SCN5A) c.393-184A>C,NM_000335.4(SCN5A) c.393-184A>C:0.68,0.68:NOT_FOUND,NOT_FOUND 3 38665727 rs78532995 T C 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=SCN5A/NM_000335.4/1;CC=c.393-1747A>G;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.393-1747A>G;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.393-1747A>G;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.393-1747A>G;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.393-1747A>G;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.393-1747A>G;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:7:0:0:10:347:39.47:23.36:16.11:1.00:1.00:1.00:60:70.5:0:0:47:99:21:NM_000335.4(SCN5A) c.393-1747A>G,NM_000335.4(SCN5A) c.393-1747A>G:0.29,0.29:NOT_FOUND,NOT_FOUND 3 38665823 rs7638275 A G 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.009984,G/0.99;Gene=SCN5A/NM_000335.4/1;CC=c.393-1843T>C;VC=Intron;Gene=SCN5A/NM_001099404.1/0;CC=c.393-1843T>C;VC=Intron;Gene=SCN5A/NM_001099405.1/0;CC=c.393-1843T>C;VC=Intron;Gene=SCN5A/NM_198056.2/0;CC=c.393-1843T>C;VC=Intron;Gene=SCN5A/NM_001160160.1/0;CC=c.393-1843T>C;VC=Intron;Gene=SCN5A/NM_001160161.1/0;CC=c.393-1843T>C;VC=Intron;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans;DM=SCN5A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:3:0:0:6:203:23.16:7.15:16.01:1.00:1.00:1.00:60:65.5:0:0:92:58:39:NM_000335.4(SCN5A) c.393-1843T>C,NM_000335.4(SCN5A) c.393-1843T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 38671921 . C . . NT END=38674525;NT GT ./. 3 38674712 rs6599230 T C 468 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=130;DB;DBA=in-clinvar;PAF=T/0.2183,C/0.7817;Gene=SCN5A/NM_000335.4/1;CC=c.87A>G;ProtCh=p.A29=;VC=Silent;Gene=SCN5A/NM_001099404.1/0;CC=c.87A>G;ProtCh=p.A29=;VC=Silent;Gene=SCN5A/NM_001099405.1/0;CC=c.87A>G;ProtCh=p.A29=;VC=Silent;Gene=SCN5A/NM_198056.2/0;CC=c.87A>G;ProtCh=p.A29=;VC=Silent;Gene=SCN5A/NM_001160160.1/0;CC=c.87A>G;ProtCh=p.A29=;VC=Silent;Gene=SCN5A/NM_001160161.1/0;CC=c.87A>G;ProtCh=p.A29=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:130:78:0:0:130:4061:467.81:200.25:267.57:1.00:1.00:1.00:60:36.1:0:0:93:51:31:NM_000335.4(SCN5A) c.87A>G (p.(=)),NM_000335.4(SCN5A) c.87A>G (p.(=)):0.77,0.77:0.835957,0.835957 3 38674799 . C . . NT END=38738839;NT GT ./. 3 38738717 rs6599240 G A 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.6272,A/0.3728;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:31:0:0:22,10:683,318:70.15,0.00:56.30,0.00:13.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.1,1.0:0,0:0,0:66,61:85,89:33,27:chr3 g.38738716G>A (intergenic),-:0.36,-:NOT_FOUND,- 3 38739574 rs6599241 T C 354 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=NA;NP=3472;PC=1.000;Gene=SCN10A/NM_001293306.2/0;CC=c.5134A>G;ProtCh=p.M1712V;VC=Missense;Gene=SCN10A/NM_001293307.2/0;CC=c.4843A>G;ProtCh=p.M1615V;VC=Missense;Gene=SCN10A/NM_006514.3/1;CC=c.5137A>G;ProtCh=p.M1713V;VC=Missense;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:102:67:0:0:102:3062:354.43:201.30:153.13:1.00:1.00:1.00:60:38.1:0:0:77:63:39:NM_006514.2(SCN10A) c.5137A>G (p.Met1713Val),NM_006514.2(SCN10A) c.5137A>G (p.Met1713Val):1,1:NOT_FOUND,NOT_FOUND 3 38739845 rs6599242 A G 670 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=178;DB;DBA=in-clinvar;PAF=A/0.07528,G/0.9247;PC=1.000;Gene=SCN10A/NM_001293306.2/0;CC=c.4863T>C;ProtCh=p.S1621=;VC=Silent;Gene=SCN10A/NM_001293307.2/0;CC=c.4572T>C;ProtCh=p.S1524=;VC=Silent;Gene=SCN10A/NM_006514.3/1;CC=c.4866T>C;ProtCh=p.S1622=;VC=Silent;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:178:124:0:0:177,1:5866,12:670.38,0.10:371.49,0.00:298.89,0.10:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,23.0:0,0:0,0:85,141:65,10:34,0:NM_006514.2(SCN10A) c.4866T>C (p.(=)),NM_006514.2(SCN10A) c.4866T>C (p.(=)):0.94,0.94:0.930494,0.930494 3 38740054 . C . . NT END=38743329;NT GT ./. 3 38743601 . C . . NT END=38748769;NT GT ./. 3 38748875 . G . . NT END=38750968;NT GT ./. 3 38749026 rs6599248 T A 100 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.2434,A/0.7566;Gene=SCN10A/NM_001293306.2/0;CC=c.4279-152A>T;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.3988-152A>T;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.4282-152A>T;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A:30:0:0:0:30:863:100.48:0.00:100.48:1.00:0.00:1.00:60:37.0:0:0:103:47:31:NM_006514.2(SCN10A) c.4282-152A>T,NM_006514.2(SCN10A) c.4282-152A>T:0.76,0.76:NOT_FOUND,NOT_FOUND 3 38751107 . C . . NT END=38752334;NT GT ./. 3 38752389 . C . . NT END=38753651;NT GT ./. 3 38753937 . C . . NT END=38755448;NT GT ./. 3 38753977 rs6781740 C T 119 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.748,T/0.252;Gene=SCN10A/NM_001293306.2/0;CC=c.3802-41G>A;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.3511-41G>A;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.3805-41G>A;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:29:0:0:27,38:837,1205:0.00,119.46:0.00,24.75:0.00,94.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,45.8:0,0:0,0:92,111:45,33:25,26:-,NM_006514.2(SCN10A) c.3805-41G>A:-,0.26:-,0.25642 3 38754176 rs62242430 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7462,C/0.2538;Gene=SCN10A/NM_001293306.2/0;CC=c.3802-240A>G;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.3511-240A>G;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.3805-240A>G;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:9:0:0:0:5,4:90,137:8.52,0.00:0.00,0.00:8.52,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:57.4,0.0:0,0:0,0:56,114:95,36:37,12:NM_006514.2(SCN10A) c.3805-240A>G,-:0.26,-:NOT_FOUND,- 3 38755572 . C . . NT END=38760143;NT GT ./. 3 38760318 . C . . NT END=38763748;NT GT ./. 3 38760506 rs6805187 C A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4872,A/0.5128;Gene=SCN10A/NM_001293306.2/0;CC=c.3505-189G>T;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.3214-189G>T;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.3508-189G>T;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:15:0:0:0:7,8:207,259:19.54,0.00:0.00,0.00:19.54,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:56.4,6.9:0,0:0,0:93,130:58,20:48,15:NM_006514.2(SCN10A) c.3508-189G>T,-:0.49,-:NOT_FOUND,- 3 38763863 rs6771157 G C 137 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.7804,C/0.2196;Gene=SCN10A/NM_001293306.2/0;CC=c.3390C>G;ProtCh=p.T1130=;VC=Silent;Gene=SCN10A/NM_001293307.2/0;CC=c.3099C>G;ProtCh=p.T1033=;VC=Silent;Gene=SCN10A/NM_006514.3/1;CC=c.3393C>G;ProtCh=p.T1131=;VC=Silent;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:99:63:0:0:1,46,52:11,1447,1701:-0.10,137.15,0.00:-0.10,61.38,0.00:-0.00,75.76,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:66.0,38.8,4.2:0,0,0:0,0,0:102,68,82:48,74,63:0,30,35:NM_006514.2(SCN10A) c.3393C>G (p.(=)),-:0.24,-:0.220206,- 3 38763904 . C . . NT END=38764920;NT GT ./. 3 38764071 rs61487238 C T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7804,T/0.2196;PC=0.003;Gene=SCN10A/NM_001293306.2/0;CC=c.3350-168G>A;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.3059-168G>A;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.3353-168G>A;VC=Intron;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:0:0:0:7,8:220,253:0.00,24.62:0.00,0.00:0.00,24.62:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.3,57.5:0,0:0,0:106,100:44,50:32,30:-,NM_006514.2(SCN10A) c.3353-168G>A:-,0.24:-,NOT_FOUND 3 38764782 rs4076737 G T 41 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.271,T/0.729;PC=0.001;Gene=SCN10A/NM_001293306.2/0;CC=c.3349+139C>A;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.3058+139C>A;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.3352+139C>A;VC=Intron;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:25:25:0:0:12,13:379,426:0.00,41.26:0.00,41.74:0.00,-0.48:0.00,1.00:0.00,1.00:0.00,0.90:60,60:0.0,52.8:0,0:0,0:35,36:115,115:16,9:-,NM_006514.2(SCN10A) c.3352+139C>A:-,0.71:-,NOT_FOUND 3 38764998 rs12632942 A G 128 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=A/0.7804,G/0.2196;PC=0.004;Gene=SCN10A/NM_001293306.2/0;CC=c.3272T>C;ProtCh=p.L1091P;VC=Missense;Gene=SCN10A/NM_001293307.2/0;CC=c.2981T>C;ProtCh=p.L994P;VC=Missense;Gene=SCN10A/NM_006514.3/1;CC=c.3275T>C;ProtCh=p.L1092P;VC=Missense;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:97:73:0:0:53,43,1:1755,1363,12:0.00,128.10,-0.07:0.00,83.74,-0.13:0.00,44.36,0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.4,44.6,103.0:0,0,0:0,0,0:48,81,23:103,69,127:34,39,0:-,NM_006514.2(SCN10A) c.3275T>C (p.Leu1092Pro):-,0.24:-,0.219975 3 38765045 . C . . NT END=38766664;NT GT ./. 3 38766348 rs62242438 T C 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7788,C/0.2212;Gene=SCN10A/NM_001293306.2/0;CC=c.3225+317A>G;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.2934+317A>G;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.3228+317A>G;VC=Intron;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:4:4:0:0:3,1:72,30:7.61,0.00:7.61,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:89.7,0.0:0,0:0,0:29,2:122,149:5,0:NM_006514.2(SCN10A) c.3228+317A>G,-:0.24,-:NOT_FOUND,- 3 38766675 rs6795970 A G 152 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.242,G/0.758;Gene=SCN10A/NM_001293306.2/0;CC=c.3215T>C;ProtCh=p.V1072A;VC=Missense;Gene=SCN10A/NM_001293307.2/0;CC=c.2924T>C;ProtCh=p.V975A;VC=Missense;Gene=SCN10A/NM_006514.3/1;CC=c.3218T>C;ProtCh=p.V1073A;VC=Missense;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:95:80:0:0:45,50:1456,1565:0.00,151.68:0.00,93.99:0.00,57.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,39.5:0,0:0,0:69,72:67,78:40,41:-,NM_006514.2(SCN10A) c.3218T>C (p.Val1073Ala):-,0.74:-,0.702522 3 38766806 . C . . NT END=38768096;NT GT ./. 3 38767961 rs59858965 A C 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7895,C/0.2105;Gene=SCN10A/NM_001293306.2/0;CC=c.3087+136T>G;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.2793+136T>G;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.3087+136T>G;VC=Intron;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:A,C:10:10:0:0:5,5:157,164:0.00,15.77:0.00,15.77:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:7.4,43.6:0,0:0,0:45,71:106,80:43,62:-,NM_006514.2(SCN10A) c.3087+136T>G:-,0.23:-,NOT_FOUND 3 38768247 rs59468016 G A 156 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.8095,A/0.1905;PC=0.286;Gene=SCN10A/NM_001293306.2/0;CC=c.2937C>T;ProtCh=p.G979=;VC=Silent;Gene=SCN10A/NM_001293307.2/0;CC=c.2643C>T;ProtCh=p.G881=;VC=Silent;Gene=SCN10A/NM_006514.3/1;CC=c.2937C>T;ProtCh=p.G979=;VC=Silent;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:85:0:0:51,64:1659,2120:155.94,0.00:98.34,0.00:57.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.8,11.3:0,0:0,0:80,60:71,82:27,28:NM_006514.2(SCN10A) c.2937C>T (p.(=)),-:0.22,-:0.190066,- 3 38768300 rs57326399 T C 154 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=123;DB;DBA=in-clinvar;PAF=T/0.7893,C/0.2107;Gene=SCN10A/NM_001293306.2/0;CC=c.2884A>G;ProtCh=p.I962V;VC=Missense;Gene=SCN10A/NM_001293307.2/0;CC=c.2590A>G;ProtCh=p.I864V;VC=Missense;Gene=SCN10A/NM_006514.3/1;CC=c.2884A>G;ProtCh=p.I962V;VC=Missense;DM=SCN10A/Na_trans_assoc GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:123:91:0:0:51,72:1659,2334:154.03,0.00:96.69,0.00:57.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.7,9.5:0,0:0,0:100,73:49,65:34,34:NM_006514.2(SCN10A) c.2884A>G (p.Ile962Val),-:0.23,-:0.210288,- 3 38768544 . C . . NT END=38770032;NT GT ./. 3 38769868 rs34786326 C T 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7971,T/0.2029;Gene=SCN10A/NM_001293306.2/0;CC=c.2640+165G>A;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.2346+165G>A;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.2640+165G>A;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:19:0:0:12,7:384,225:0.00,20.42:0.00,20.42:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:11.2,32.1:0,0:0,0:55,31:94,120:28,10:-,NM_006514.2(SCN10A) c.2640+165G>A:-,0.23:-,NOT_FOUND 3 38770393 . C . . NT END=38781005;NT GT ./. 3 38770639 rs7433306 C G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.242,G/0.758;Gene=SCN10A/NM_001293306.2/0;CC=c.2281-247G>C;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.1987-247G>C;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.2281-247G>C;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:C,G:6:0:0:0:2,4:51,134:0.00,13.65:0.00,0.00:0.00,13.65:0.00,0.93:0.00,0.00:0.00,0.93:60,60:135.5,36.8:0,0:0,0:134,87:14,63:2,7:-,NM_006514.2(SCN10A) c.2281-247G>C:-,0.74:-,NOT_FOUND 3 38777852 . CTGTGTGTGTG C 7 nt VT=DEL;SST=Single;DP=4;NP=7;PC=0.007;Gene=SCN10A/NM_001293306.2/0;CC=c.2280+3144_2280+3153delCACACACACA;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.1986+3144_1986+3153delCACACACACA;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.2280+3144_2280+3153delCACACACACA;VC=Intron;DM=SCN10A/Ion_trans;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:CTGTGTGTGTG,I,C:4:3:1:2:1,1,2:35,23,67:0.00,2.05,6.75:0.00,-0.13,6.75:0.00,2.18,0.00:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.67:60,60,60:0.0,141.0,0.0:0,0,0:0,0,0:84,70,53:46,81,97:0,0,35:-,NM_006514.2(SCN10A) c.2280+3144_2280+3153delCACACACACA:-,NOT_FOUND:-,NOT_FOUND 3 38781180 . C . . NT END=38783781;NT GT ./. 3 38784021 . C . . NT END=38791563;NT GT ./. 3 38784029 rs6599250 T C 107 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=T/0.2422,C/0.7578;PC=0.003;Gene=SCN10A/NM_001293306.2/0;CC=c.1868-9A>G;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.1574-9A>G;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.1868-9A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:62:21:0:0:33,29:1096,942:106.73,0.00:16.70,0.00:90.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.6,5.9:0,0:0,0:98,97:52,52:27,23:NM_006514.2(SCN10A) c.1868-9A>G,-:0.74,-:0.697524,- 3 38791676 . C . . NT END=38793709;NT GT ./. 3 38793989 rs7617919 G A 192 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.7923,A/0.2077;Gene=SCN10A/NM_001293306.2/0;CC=c.1476C>T;ProtCh=p.L492=;VC=Silent;Gene=SCN10A/NM_001293307.2/0;CC=c.1462-2314C>T;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.1476C>T;ProtCh=p.L492=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:118:64:0:0:62,56:1980,1784:192.07,0.00:63.09,0.00:128.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.7,11.2:0,0:0,0:88,71:56,71:23,41:NM_006514.2(SCN10A) c.1476C>T (p.(=)),-:0.23,-:0.203014,- 3 38794004 . C . . NT END=38797278;NT GT ./. 3 38797450 . C . . NT END=38798164;NT GT ./. 3 38798171 rs62244070 C T 73 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.7925,T/0.2075;PC=0.534;Gene=SCN10A/NM_001293306.2/0;CC=c.1284G>A;ProtCh=p.E428=;VC=Silent;Gene=SCN10A/NM_001293307.2/0;CC=c.1284G>A;ProtCh=p.E428=;VC=Silent;Gene=SCN10A/NM_006514.3/1;CC=c.1284G>A;ProtCh=p.E428=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:48:0:0:30,25:983,778:0.00,73.29:0.00,54.57:0.00,18.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,35.8:0,0:0,0:72,42:70,106:40,26:-,NM_006514.2(SCN10A) c.1284G>A (p.(=)):-,0.23:-,0.202368 3 38798363 . C . . NT END=38798508;NT GT ./. 3 38798651 . C . . NT END=38802171;NT GT ./. 3 38798836 rs6798015 C T 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.2586,T/0.7414;PC=0.001;Gene=SCN10A/NM_001293306.2/0;CC=c.951-186G>A;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.951-186G>A;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.951-186G>A;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:C,T:14:1:0:0:6,8:153,257:0.00,25.39:0.00,-0.37:0.00,25.76:0.00,1.00:0.00,0.71:0.00,1.00:60,60:5.0,32.1:0,0:0,0:88,109:62,41:52,38:-,NM_006514.2(SCN10A) c.951-186G>A:-,0.72:-,NOT_FOUND 3 38802239 . C . . NT END=38802682;NT GT ./. 3 38802251 rs7641844 A G 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.6112,G/0.3888;Gene=SCN10A/NM_001293306.2/0;CC=c.884-13T>C;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.884-13T>C;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.884-13T>C;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:19:0:0:24,10:782,297:0.00,25.53:0.00,4.33:0.00,21.20:0.00,1.00:0.00,0.99:0.00,1.00:60,60:7.0,30.5:0,0:0,0:78,104:53,43:22,29:-,NM_006514.2(SCN10A) c.884-13T>C:-,0.4:-,0.305705 3 38802875 . C . . NT END=38804995;NT GT ./. 3 38805088 . C . . NT END=38812769;NT GT ./. 3 38812650 rs10212338 G A 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7752,A/0.2248;PC=0.041;Gene=SCN10A/NM_001293306.2/0;CC=c.599+120C>T;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.599+120C>T;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.599+120C>T;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:28:0:0:13,16:409,404:38.50,0.00:32.39,0.00:6.11,0.00:1.00,0.00:1.00,0.00:0.85,0.00:60,60:34.9,22.5:0,0:0,0:28,39:123,111:27,17:NM_006514.2(SCN10A) c.599+120C>T,-:0.24,-:NOT_FOUND,- 3 38812899 . C . . NT END=38830446;NT GT ./. 3 38813009 rs62244081 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.7694,C/0.2306;Gene=SCN10A/NM_001293306.2/0;CC=c.471-111A>G;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.471-111A>G;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.471-111A>G;VC=Intron;DM=SCN10A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:14:1:0:0:6,8:188,247:17.52,0.00:1.80,0.00:15.71,0.00:0.96,0.00:0.62,0.00:0.96,0.00:60,60:44.8,24.4:0,0:0,0:108,92:42,59:15,15:NM_006514.2(SCN10A) c.471-111A>G,-:0.24,-:NOT_FOUND,- 3 38830528 . C . . NT END=38833531;NT GT ./. 3 38833660 . C . . NT END=38835231;NT GT ./. 3 38835084 rs11719241 G T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9032,T/0.09685;PC=0.001;Gene=SCN10A/NM_001293306.2/0;CC=c.270+148C>A;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.270+148C>A;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.270+148C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:22:0:0:14,8:465,246:0.00,22.15:0.00,22.15:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:70,60:1.4,39.0:0,0:0,0:34,15:115,134:25,10:-,NM_006514.2(SCN10A) c.270+148C>A:-,0.1:-,NOT_FOUND 3 38835097 rs72869618 A AT 6 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.9788,T/0.02117;Gene=SCN10A/NM_001293306.2/0;CC=c.270+134_270+135insA;VC=Intron;Gene=SCN10A/NM_001293307.2/0;CC=c.270+134_270+135insA;VC=Intron;Gene=SCN10A/NM_006514.3/1;CC=c.270+134_270+135insA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,AT,D:27:27:3:1:23,3,1:729,91,29:0.00,6.49,1.57:0.00,6.49,1.57:0.00,0.00,0.00:0.00,0.44,0.00:0.00,0.44,0.00:0.00,0.00,0.00:60,70,60:16.7,0.0,35.0:0,0,0:0,0,0:33,116,7:118,32,144:17,25,0:-,NM_006514.2(SCN10A) c.270+134_270+135insA:-,NOT_FOUND:-,NOT_FOUND 3 38835502 . C . . NT END=38888184;NT GT ./. 3 38869898 rs57392589 A AACAC 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=19;NP=3;PC=0.001;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,AACAC:4:4:4:0:1,3:34,123:0.00,9.27:0.00,3.11:0.00,6.16:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,52.3:0,1:0,0:87,82:40,67:0,4:-,chr3 g.38869898_38869899insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 38889234 . C . . NT END=38891971;NT GT ./. 3 38892243 . C . . NT END=38904685;NT GT ./. 3 38904791 . G . . NT END=38908811;NT GT ./. 3 38908950 . C . . NT END=38912181;NT GT ./. 3 38912236 . C . . NT END=38912935;NT GT ./. 3 38913200 . C . . NT END=38913683;NT GT ./. 3 38913786 . C . . NT END=38921440;NT GT ./. 3 38921615 . C . . NT END=38924723;NT GT ./. 3 38924879 . C . . NT END=38926778;NT GT ./. 3 38926894 . C . . NT END=38927615;NT GT ./. 3 38927730 . C . . NT END=38936023;NT GT ./. 3 38936456 . C . . NT END=38938335;NT GT ./. 3 38938299 rs5848481 C CT 106 idl,rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=875;PC=0.001;Gene=SCN11A/NM_014139.2/0;CC=c.2403+36dupA;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.2403+36dupA;VC=Intron;DM=SCN11A/Ion_trans;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T,CT,D:52:45:37:3:14,1,2,33,2:393,14,68,1166,98:0.00,0.25,4.63,106.10,4.33:0.00,0.27,-0.18,69.60,2.05:0.00,-0.02,4.81,36.50,2.29:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:49.3,14.0,34.0,50.7,27.0:1,0,2,4,1:0,0,0,0,0:92,150,29,35,37:49,1,121,106,113:36,0,6,16,10:-,NM_014139.2(SCN11A) c.2403+36_2403+37insA:-,NOT_FOUND:-,NOT_FOUND 3 38938314 . G T 14 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;NP=204;PC=0.011;Gene=SCN11A/NM_014139.2/0;CC=c.2403+22C>A;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.2403+22C>A;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,G,T:60:44:0:0:1,49,10:14,1391,206:-0.02,0.00,13.89:0.13,0.00,15.52:-0.15,0.00,-1.63:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:98.0,28.8,103.0:1,0,0:0,0,0:138,45,101:12,101,40:0,20,30:-,NM_014139.2(SCN11A) c.2403+22C>A:-,NOT_FOUND:-,NOT_FOUND 3 38938717 . C . . NT END=38941384;NT GT ./. 3 38938845 rs4484137 T C 110 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.01737,C/0.9826;Gene=SCN11A/NM_014139.2/0;CC=c.2023-129A>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.2023-129A>G;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:5:0:0:29:959:109.69:9.32:100.38:1.00:1.00:1.00:60:39.2:0:0:98:53:17:NM_014139.2(SCN11A) c.2023-129A>G,NM_014139.2(SCN11A) c.2023-129A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 3 38941565 . C . . NT END=38945355;NT GT ./. 3 38945560 rs4073113 A G 252 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.3876,G/0.6124;PC=0.059;Gene=SCN11A/NM_014139.2/0;CC=c.1638T>C;ProtCh=p.C546=;VC=Silent;Gene=SCN11A/NM_001287223.1/1;CC=c.1638T>C;ProtCh=p.C546=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:G:65:31:0:0:65:2206:251.59:66.09:185.50:1.00:1.00:1.00:60:39.0:0:0:81:61:30:NM_014139.2(SCN11A) c.1638T>C (p.(=)),NM_014139.2(SCN11A) c.1638T>C (p.(=)):0.6,0.6:0.607412,0.607412 3 38945595 . C . . NT END=38946682;NT GT ./. 3 38946416 rs4553926 T G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1074,G/0.8926;Gene=SCN11A/NM_014139.2/0;CC=c.1603+267A>C;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.1603+267A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:137:16.04:16.04:0.00:1.00:1.00:0.00:60:50.4:0:0:52:99:13:NM_014139.2(SCN11A) c.1603+267A>C,NM_014139.2(SCN11A) c.1603+267A>C:0.88,0.88:NOT_FOUND,NOT_FOUND 3 38946813 . C . . NT END=38949439;NT GT ./. 3 38946872 rs4514993 A T 170 nt VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.126,T/0.874;PC=0.008;Gene=SCN11A/NM_014139.2/0;CC=c.1474-60T>A;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.1474-60T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:T:48:14:0:0:48:1472:169.95:29.30:140.65:1.00:1.00:1.00:60:39.1:0:0:111:38:31:NM_014139.2(SCN11A) c.1474-60T>A,NM_014139.2(SCN11A) c.1474-60T>A:0.87,0.87:NOT_FOUND,NOT_FOUND 3 38949363 rs6599267 A C 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.1072,C/0.8928;Gene=SCN11A/NM_014139.2/0;CC=c.1473+77T>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.1473+77T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:25:0:0:27:818:94.62:84.54:10.08:1.00:1.00:1.00:60:35.0:0:0:53:98:39:NM_014139.2(SCN11A) c.1473+77T>G,NM_014139.2(SCN11A) c.1473+77T>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 38949614 . C . . NT END=38950487;NT GT ./. 3 38950219 rs6599268 A G,T 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1072,G/0.8928 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:G,T:4:4:0:0:3,1:107,8:11.76,0.68:11.76,0.68:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:38.3,140.0:0,0:0,0:40,39:111,111:11,0:NM_014139.2(SCN11A) c.1299+269T>C,NM_014139.2(SCN11A) c.1299+269T>A:0.88,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 38950686 . C . . NT END=38951556;NT GT ./. 3 38951699 . C . . NT END=38961425;NT GT ./. 3 38951753 rs7429404 T C 133 nt VT=SNV;PN=T;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.1072,C/0.8928;Gene=SCN11A/NM_014139.2/0;CC=c.960-55A>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.960-55A>G;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:11:0:0:35:1160:132.63:25.50:107.13:1.00:1.00:1.00:60:40.5:0:0:91:47:39:NM_014139.2(SCN11A) c.960-55A>G,NM_014139.2(SCN11A) c.960-55A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 38961493 . C . . NT END=38962566;NT GT ./. 3 38961537 rs6779297 T C 71 nt VT=SNV;PN=T;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1072,C/0.8928;Gene=SCN11A/NM_014139.2/0;CC=c.893-45A>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.893-45A>G;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:8:0:0:21:613:71.17:14.75:56.42:1.00:1.00:1.00:60:39.5:0:0:104:46:20:NM_014139.2(SCN11A) c.893-45A>G,NM_014139.2(SCN11A) c.893-45A>G:0.88,0.88:0.886154,0.886154 3 38961659 rs6599269 T C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1072,C/0.8928;Gene=SCN11A/NM_014139.2/0;CC=c.893-167A>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.893-167A>G;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:172:19.58:0.00:19.58:1.00:0.00:1.00:60:49.6:0:0:129:22:3:NM_014139.2(SCN11A) c.893-167A>G,NM_014139.2(SCN11A) c.893-167A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 38962747 . C . . NT END=38966905;NT GT ./. 3 38967001 . C . . NT END=38968293;NT GT ./. 3 38967103 rs4676474 C T 50 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5491,T/0.4509;Gene=SCN11A/NM_014139.2/0;CC=c.618-103G>A;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.618-103G>A;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:0:0:0:14:429:49.55:0.00:49.55:1.00:0.00:1.00:60:43.1:0:0:106:43:32:NM_014139.2(SCN11A) c.618-103G>A,NM_014139.2(SCN11A) c.618-103G>A:0.47,0.47:NOT_FOUND,NOT_FOUND 3 38967195 rs4676583 C G 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.007388,G/0.9926;Gene=SCN11A/NM_014139.2/0;CC=c.618-195G>C;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.618-195G>C;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:189:21.76:0.00:21.76:1.00:0.00:1.00:60:57.0:0:0:114:34:21:NM_014139.2(SCN11A) c.618-195G>C,NM_014139.2(SCN11A) c.618-195G>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 38968423 . C . . NT END=38986901;NT GT ./. 3 38970621 rs7434229 T C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1849,C/0.8151;PC=0.001;Gene=SCN11A/NM_014139.2/0;CC=c.489-2199A>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.489-2199A>G;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:1:4:130:14.91:3.78:11.13:1.00:1.00:1.00:60:83.2:0:0:86:64:18:NM_014139.2(SCN11A) c.489-2199A>G,NM_014139.2(SCN11A) c.489-2199A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 3 38970624 rs7433733 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2029,G/0.7971;PC=0.003;Gene=SCN11A/NM_014139.2/0;CC=c.489-2202T>C;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.489-2202T>C;VC=Intron;DM=SCN11A/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:1:4:139:15.81:4.03:11.78:1.00:1.00:1.00:60:92.8:0:0:89:61:18:NM_014139.2(SCN11A) c.489-2202T>C,NM_014139.2(SCN11A) c.489-2202T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 3 38987004 . G . . NT END=38988279;NT GT ./. 3 38988399 . C . . NT END=38991586;NT GT ./. 3 38991554 rs201109149 A C 13 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.002;Gene=SCN11A/NM_014139.2/0;CC=c.267+33T>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.267+33T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,C,D:17:10:0:3:7,9,1:118,134,19:0.00,12.78,0.99:0.00,6.93,1.08:0.00,5.84,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:17.7,41.2,11.0:0,1,0:0,0,0:48,93,107:78,19,22:37,51,0:-,NM_014139.2(SCN11A) c.267+33T>G:-,NOT_FOUND:-,NOT_FOUND 3 38991560 rs60219362 A C 21 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=2;Gene=SCN11A/NM_014139.2/0;CC=c.267+27T>G;VC=Intron;Gene=SCN11A/NM_001287223.1/1;CC=c.267+27T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,C,D:16:8:0:5:5,9,2:56,208,65:0.00,20.95,2.95:0.00,8.55,-0.13:0.00,12.40,3.08:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,60,60:21.8,42.0,81.5:1,1,1:0,0,0:45,99,48:72,13,103:28,44,6:-,NM_014139.2(SCN11A) c.267+27T>G:-,NOT_FOUND:-,NOT_FOUND 3 38991854 . C . . NT END=39093516;NT GT ./. 3 39093565 . G . . NT END=39104540;NT GT ./. 3 39104682 . G . . NT END=39107301;NT GT ./. 3 39107381 . G . . NT END=39108038;NT GT ./. 3 39108122 . G . . NT END=39108236;NT GT ./. 3 39108367 . G . . NT END=39110261;NT GT ./. 3 39110351 . G . . NT END=39111133;NT GT ./. 3 39111236 . G . . NT END=39116216;NT GT ./. 3 39116442 . G . . NT END=39118629;NT GT ./. 3 39118705 . G . . NT END=39119627;NT GT ./. 3 39119731 . G . . NT END=39121201;NT GT ./. 3 39121300 . G . . NT END=39125645;NT GT ./. 3 39125754 . G . . NT END=39126135;NT GT ./. 3 39126233 . G . . NT END=39127005;NT GT ./. 3 39127102 . G . . NT END=39129618;NT GT ./. 3 39129725 . G . . NT END=39130721;NT GT ./. 3 39130810 . G . . NT END=39133115;NT GT ./. 3 39133193 . G . . NT END=39135364;NT GT ./. 3 39136235 . A . . NT END=39139726;NT GT ./. 3 39139981 . C . . NT END=39140231;NT GT ./. 3 39140385 . C . . NT END=39140843;NT GT ./. 3 39140995 . C . . NT END=39141795;NT GT ./. 3 39141995 . C . . NT END=39142237;NT GT ./. 3 39142369 . C . . NT END=39142506;NT GT ./. 3 39142594 . C . . NT END=39144168;NT GT ./. 3 39144373 . C . . NT END=39144963;NT GT ./. 3 39145045 . C . . NT END=39148969;NT GT ./. 3 39149033 . G . . NT END=39149328;NT GT ./. 3 39149092 rs6786764 A G 248 nt VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.05012,C/.,G/0.9499;PC=0.010;Gene=GORASP1/NM_001278789.1/0;CC=c.-60T>C;VC=5UTR;Gene=GORASP1/NM_001278790.1/0;CC=c.-60T>C;VC=5UTR;Gene=GORASP1/NR_103866.1/0;VC=NonCoding;Gene=GORASP1/NR_103867.1/0;VC=NonCoding;Gene=GORASP1/NM_031899.3/1;CC=c.-60T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:G:64:39:0:0:64:2173:247.80:105.99:141.81:1.00:1.00:1.00:60:39.3:0:0:96:51:31:NM_031899.2(GORASP1) c.=,NM_031899.2(GORASP1) c.=:0.94,0.94:0.93631,0.93631 3 39149356 . G . . NT END=39150575;NT GT ./. 3 39150706 . G . . NT END=39151519;NT GT ./. 3 39151631 . G . . NT END=39152341;NT GT ./. 3 39152509 . G . . NT END=39153948;NT GT ./. 3 39154139 . G . . NT END=39156075;NT GT ./. 3 39155966 rs149803210 G A 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.996,A/0.003994;NP=69;Gene=TTC21A/NM_001105513.2/0;CC=c.436-110G>A;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.559-110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:31:0:0:16,16:478,535:45.78,0.00:41.26,0.00:4.51,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:45.1,5.4:0,0:0,0:13,37:130,113:9,27:NM_145755.2(TTC21A) c.559-110G>A,-:0.01,-:NOT_FOUND,- 3 39156234 . G . . NT END=39159559;NT GT ./. 3 39159669 . G . . NT END=39161412;NT GT ./. 3 39161512 . G . . NT END=39162487;NT GT ./. 3 39162681 . G . . NT END=39166553;NT GT ./. 3 39166355 rs784509 G A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4557,A/0.5443;Gene=TTC21A/NM_001105513.2/0;CC=c.971-199G>A;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1118-199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:123:14.21:14.21:0.00:1.00:1.00:0.00:60:50.5:0:0:25:125:13:NM_145755.2(TTC21A) c.1118-199G>A,NM_145755.2(TTC21A) c.1118-199G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 3 39166484 rs784508 C T 57 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4557,T/0.5443;Gene=TTC21A/NM_001105513.2/0;CC=c.971-70C>T;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1118-70C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:502:57.32:55.28:2.04:1.00:1.00:1.00:60:67.1:0:0:45:106:20:NM_145755.2(TTC21A) c.1118-70C>T,NM_145755.2(TTC21A) c.1118-70C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 3 39166509 rs784507 A G 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.1741,G/0.8259;PC=0.021;Gene=TTC21A/NM_001105513.2/0;CC=c.971-45A>G;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1118-45A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:18:0:0:18:567:65.25:57.20:8.05:1.00:1.00:1.00:60:59.6:0:0:64:85:27:NM_145755.2(TTC21A) c.1118-45A>G,NM_145755.2(TTC21A) c.1118-45A>G:0.83,0.83:0.818529,0.818529 3 39166652 . G . . NT END=39166822;NT GT ./. 3 39166743 rs2669852 T C 186 nt VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.006989,C/0.993;NP=3453;Gene=TTC21A/NM_001105513.2/0;CC=c.1069-80T>C;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1216-80T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:35:0:0:51:1618:185.93:118.62:67.31:1.00:1.00:1.00:60:41.7:0:0:65:85:35:NM_145755.2(TTC21A) c.1216-80T>C,NM_145755.2(TTC21A) c.1216-80T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 39167024 . G . . NT END=39167751;NT GT ./. 3 39167882 . G . . NT END=39169821;NT GT ./. 3 39167905 rs784506 G A 269 nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.08746,A/0.9125;Gene=TTC21A/NM_001105513.2/0;CC=c.1399+24G>A;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1546+24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:73:39:0:0:73:2343:269.00:102.56:166.44:1.00:1.00:1.00:60:44.2:0:0:90:55:28:NM_145755.2(TTC21A) c.1546+24G>A,NM_145755.2(TTC21A) c.1546+24G>A:0.9,0.9:0.896045,0.896045 3 39168117 rs71723658 TACAC T 13 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TACAC/0.07348,T/0.9265;DB;DBA=NA;PAF=TACAC/0.07348,T/0.9265;DB;DBA=NA;PAF=TACAC/0.07348,T/0.9265;DB;DBA=NA;PAF=TACAC/0.07348,T/0.9265;NP=34;PC=0.003;Gene=TTC21A/NM_001105513.2/0;CC=c.1399+257_1399+260delACAC;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1546+257_1546+260delACAC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:TACAC,T:7:3:0:4:3,4:97,131:0.00,12.93:0.00,5.12:0.00,7.82:0.00,0.90:0.00,0.93:0.00,0.99:60,60:56.0,21.5:0,0:0,0:134,67:17,84:8,23:-,NM_145755.2(TTC21A) c.1546+237_1546+240delACAC:-,NOT_FOUND:-,NOT_FOUND 3 39168283 rs811971 T C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.401,C/0.599;PC=0.023;Gene=TTC21A/NM_001105513.2/0;CC=c.1399+402T>C;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1546+402T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:59.2:0:0:136:14:5:NM_145755.2(TTC21A) c.1546+402T>C,NM_145755.2(TTC21A) c.1546+402T>C:0.62,0.62:NOT_FOUND,NOT_FOUND 3 39169693 rs1298712 A G 122 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4395,G/0.5605;PC=0.054;Gene=TTC21A/NM_001105513.2/0;CC=c.1400-129A>G;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1547-132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:G:33:33:0:0:33:1060:121.68:119.69:1.99:1.00:1.00:1.00:60:72.9:0:0:35:116:21:NM_145755.2(TTC21A) c.1547-132A>G,NM_145755.2(TTC21A) c.1547-132A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 3 39169712 rs1274969 T C 155 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.4395,C/0.5605,G/.;Gene=TTC21A/NM_001105513.2/0;CC=c.1400-110T>C;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1547-113T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:42:0:0:42:1347:154.70:146.79:7.90:1.00:1.00:1.00:60:66.7:0:0:37:112:23:NM_145755.2(TTC21A) c.1547-113T>C,NM_145755.2(TTC21A) c.1547-113T>C:0.58,0.58:NOT_FOUND,NOT_FOUND 3 39169980 . G . . NT END=39170207;NT GT ./. 3 39170090 rs1274968 C T 202 nt VT=SNV;PN=T;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.4553,T/0.5447;Gene=TTC21A/NM_001105513.2/0;CC=c.1557+111C>T;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.1701+111C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:T:53:20:0:0:53:1766:201.87:68.07:133.80:1.00:1.00:1.00:60:38.2:0:0:80:71:45:NM_145755.2(TTC21A) c.1701+111C>T,NM_145755.2(TTC21A) c.1701+111C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 3 39170424 . G . . NT END=39170562;NT GT ./. 3 39170802 . G . . NT END=39171569;NT GT ./. 3 39171643 . G . . NT END=39171738;NT GT ./. 3 39171850 . G . . NT END=39172191;NT GT ./. 3 39172331 . G . . NT END=39172482;NT GT ./. 3 39172587 . G . . NT END=39174542;NT GT ./. 3 39174437 rs35628459 T A 132 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4413,A/0.5587,G/.;PC=0.008;Gene=TTC21A/NM_001105513.2/0;CC=c.2440-106T>A;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.2584-106T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:35:0:0:36:1151:132.22:126.41:5.82:1.00:1.00:1.00:60:70.3:36:0:54:96:28:NM_145755.2(TTC21A) c.2584-106T>A,NM_145755.2(TTC21A) c.2584-106T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 39174438 rs200478288 G GA 132 nt VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4413,GA/0.5587;DB;DBA=NA;PAF=NA;NP=495;PC=0.016;Gene=TTC21A/NM_001105513.2/0;CC=c.2440-105_2440-104insA;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.2584-105_2584-104insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:A,GA:37:36:36:0:1,36:32,1150:2.11,131.72:2.11,126.33:0.00,5.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.0,70.2:0,0:0,0:0,63:151,88:0,30:NM_145755.2(TTC21A) c.2584-105_2584-104insA,NM_145755.2(TTC21A) c.2584-105_2584-104insA:0.57,0.57:NOT_FOUND,NOT_FOUND 3 39174462 rs784491 T C 216 nt VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.3175,C/0.6825;PC=0.001;Gene=TTC21A/NM_001105513.2/0;CC=c.2440-81T>C;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.2584-81T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C:57:54:0:0:57:1885:215.65:191.48:24.16:1.00:1.00:1.00:60:59.0:0:0:41:102:23:NM_145755.2(TTC21A) c.2584-81T>C,NM_145755.2(TTC21A) c.2584-81T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 3 39174732 . G . . NT END=39175708;NT GT ./. 3 39175576 rs784492 G T 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3337,T/0.6663;Gene=TTC21A/NM_001105513.2/0;CC=c.2629-133G>T;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.2773-133G>T;VC=Intron;DM=TTC21A/TPR_19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:14:0:0:14:477:54.37:54.37:0.00:1.00:1.00:0.00:60:42.0:0:0:50:100:19:NM_145755.2(TTC21A) c.2773-133G>T,NM_145755.2(TTC21A) c.2773-133G>T:0.67,0.67:NOT_FOUND,NOT_FOUND 3 39175820 . G . . NT END=39176583;NT GT ./. 3 39176666 . G . . NT END=39177820;NT GT ./. 3 39177999 . G . . NT END=39178389;NT GT ./. 3 39178238 rs784494 A C 125 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.08886,C/0.9111;Gene=TTC21A/NM_001105513.2/0;CC=c.2973-152A>C;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.3117-152A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:21:0:0:36:1078:124.88:75.10:49.79:1.00:1.00:1.00:60:51.6:0:0:87:64:42:NM_145755.2(TTC21A) c.3117-152A>C,NM_145755.2(TTC21A) c.3117-152A>C:0.89,0.89:NOT_FOUND,NOT_FOUND 3 39178552 . G . . NT END=39178670;NT GT ./. 3 39178879 . G . . NT END=39178976;NT GT ./. 3 39178899 rs784495 C T 507 nt VT=SNV;PN=G;NN=G;SST=Single;DP=138;DB;DBA=NA;PAF=C/0.5194,G/.,T/0.4806;Gene=TTC21A/NM_001105513.2/0;CC=c.3327+21C>T;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.3471+21C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:138:74:0:0:138:4412:506.92:198.22:308.70:1.00:1.00:1.00:60:38.8:0:0:83:61:31:NM_145755.2(TTC21A) c.3471+21C>T,NM_145755.2(TTC21A) c.3471+21C>T:0.51,0.51:0.484589,0.484589 3 39179202 . G . . NT END=39179757;NT GT ./. 3 39179536 rs784496 A G 99 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.4475,G/0.5525;Gene=TTC21A/NM_001105513.2/0;CC=c.3553-222A>G;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.3697-222A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:27:0:0:27:857:98.53:98.53:0.00:1.00:1.00:0.00:60:41.8:0:0:92:59:39:NM_145755.2(TTC21A) c.3697-222A>G,NM_145755.2(TTC21A) c.3697-222A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 3 39179879 . G . . NT END=39180046;NT GT ./. 3 39179909 rs784497 G A 501 nt VT=SNV;PN=T;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.4665,A/0.5335;Gene=TTC21A/NM_001105513.2/0;CC=c.3673+31G>A;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.3817+31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:134:76:0:0:134:4376:501.23:189.25:311.98:1.00:1.00:1.00:60:42.0:0:0:88:60:27:NM_145755.2(TTC21A) c.3817+31G>A,NM_145755.2(TTC21A) c.3817+31G>A:0.55,0.55:0.528567,0.528567 3 39180099 rs784498 T C 285 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=T/0.2931,C/0.7069;Gene=TTC21A/NM_001105513.2/0;CC=c.3726T>C;ProtCh=p.I1242=;VC=Silent;Gene=TTC21A/NM_145755.2/1;CC=c.3870T>C;ProtCh=p.I1290=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:82:52:0:0:81,1:2491,35:284.93,0.00:151.87,0.00:133.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.1,33.0:0,0:0,0:88,25:57,120:31,0:NM_145755.2(TTC21A) c.3870T>C (p.(=)),NM_145755.2(TTC21A) c.3870T>C (p.(=)):0.7,0.7:0.704214,0.704214 3 39180115 . G . . NT END=39180201;NT GT ./. 3 39180162 rs811969 A C 285 nt VT=SNV;PN=A;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=A/0.4463,C/0.5537;Gene=TTC21A/NM_001105513.2/0;CC=c.3742-40A>C;VC=Intron;Gene=TTC21A/NM_145755.2/1;CC=c.3886-40A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:79:50:0:0:78,1:2486,13:285.23,0.24:134.60,0.00:150.63,0.24:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.0,53.0:0,0:0,0:74,146:76,5:43,0:NM_145755.2(TTC21A) c.3886-40A>C,NM_145755.2(TTC21A) c.3886-40A>C:0.57,0.57:0.54928,0.54928 3 39180263 rs704959 G A 269 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.4539,A/0.5461;PC=0.928;Gene=TTC21A/NM_001105513.2/0;CC=c.3803G>A;ProtCh=p.R1268K;VC=Missense;Gene=TTC21A/NM_145755.2/1;CC=c.3947G>A;ProtCh=p.R1316K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:71:36:0:0:71:2354:269.18:89.91:179.27:1.00:1.00:1.00:60:55.1:0:0:86:60:33:NM_145755.2(TTC21A) c.3947G>A (p.Arg1316Lys),NM_145755.2(TTC21A) c.3947G>A (p.Arg1316Lys):0.56,0.56:0.535122,0.535122 3 39180280 . C . . NT END=39184545;NT GT ./. 3 39184353 rs704960 C T 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.001;Gene=CSRNP1/NM_033027.3/1;CC=c.*193G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:342:38.97:38.97:0.00:1.00:1.00:0.00:60:47.3:0:0:28:121:16:NM_033027.3(CSRNP1) c.*193G>A,NM_033027.3(CSRNP1) c.*193G>A:0.61,0.61:NOT_FOUND,NOT_FOUND 3 39184959 rs1274958 C T 549 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.2155,T/0.7845;PC=0.004;Gene=CSRNP1/NM_033027.3/1;CC=c.1357G>A;ProtCh=p.V453I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:145:84:0:0:145:4800:549.12:246.03:303.09:1.00:1.00:1.00:60:44.0:0:0:67:82:39:NM_033027.3(CSRNP1) c.1357G>A (p.Val453Ile),NM_033027.3(CSRNP1) c.1357G>A (p.Val453Ile):0.77,0.77:0.770875,0.770875 3 39185077 rs1274957 G A 520 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=G/0.5088,A/0.4912;Gene=CSRNP1/NM_033027.3/1;CC=c.1239C>T;ProtCh=p.S413=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:148:111:0:0:147,1:4520,13:519.56,0.00:308.32,0.00:211.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,105.0:0,0:0,0:67,80:81,71:39,0:NM_033027.3(CSRNP1) c.1239C>T (p.(=)),NM_033027.3(CSRNP1) c.1239C>T (p.(=)):0.51,0.51:0.497001,0.497001 3 39185248 rs784519 A G 631 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=A/0.09105,G/0.9089;PC=0.020;Gene=CSRNP1/NM_033027.3/1;CC=c.1068T>C;ProtCh=p.S356=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:173:119:0:0:2,171:46,5539:0.00,631.01:0.00,336.79:0.00,294.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.5,41.0:0,0:0,0:81,78:70,67:33,40:NM_033027.3(CSRNP1) c.1068T>C (p.(=)),NM_033027.3(CSRNP1) c.1068T>C (p.(=)):0.89,0.89:0.893511,0.893511 3 39185536 . C . . NT END=39185627;NT GT ./. 3 39185943 . C . . NT END=39186487;NT GT ./. 3 39185968 rs810743 A G 291 nt VT=SNV;PN=T;NN=A;SST=Single;DP=78;DB;DBA=NA;PAF=A/0.2386,G/0.7614;PC=0.271;Gene=CSRNP1/NM_033027.3/1;CC=c.466-26T>C;VC=Intron;DM=CSRNP1/CSRNP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:78:28:0:0:78:2539:290.97:68.56:222.41:1.00:1.00:1.00:60:56.6:0:0:103:44:23:NM_033027.3(CSRNP1) c.466-26T>C,NM_033027.3(CSRNP1) c.466-26T>C:0.74,0.74:0.746996,0.746996 3 39186038 rs784518 C G 114 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.5212,G/0.4788;Gene=CSRNP1/NM_033027.3/1;CC=c.466-96G>C;VC=Intron;DM=CSRNP1/CSRNP_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C,G:32:4:0:0:1,31:8,1008:0.00,114.03:0.00,9.16:0.00,104.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:44.0,81.7:0,0:0,0:0,93:151,56:0,24:NM_033027.3(CSRNP1) c.466-96G>C,NM_033027.3(CSRNP1) c.466-96G>C:0.42,0.42:NOT_FOUND,NOT_FOUND 3 39186728 rs784517 C T 388 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.5385,G/.,T/0.4615;PC=0.878;Gene=CSRNP1/NM_033027.3/1;CC=c.225G>A;ProtCh=p.R75=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:105:55:0:0:105:3384:388.22:146.45:241.77:1.00:1.00:1.00:60:37.7:0:0:108:43:31:NM_033027.3(CSRNP1) c.225G>A (p.(=)),NM_033027.3(CSRNP1) c.225G>A (p.(=)):0.48,0.48:0.440643,0.440643 3 39186748 . C . . NT END=39187968;NT GT ./. 3 39188214 . C . . NT END=39225404;NT GT ./. 3 39188351 rs1105163 C T 120 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.5084,T/0.4916;PC=0.002;Gene=CSRNP1/NM_033027.3/1;CC=c.-40-138G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:5:0:0:34:1038:119.96:13.35:106.60:1.00:1.00:1.00:60:51.8:0:0:108:42:23:NM_033027.3(CSRNP1) c.-40-138G>A,NM_033027.3(CSRNP1) c.-40-138G>A:0.5,0.5:NOT_FOUND,NOT_FOUND 3 39229900 rs6805248 T C 694 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=203;DB;DBA=NA;PAF=T/0.006589,C/0.9934,G/.;NP=3480;PC=0.905;Gene=XIRP1/NM_001198621.2/1;CC=c.1037A>G;ProtCh=p.Q346R;VC=Missense;Gene=XIRP1/NM_194293.2/0;CC=c.1037A>G;ProtCh=p.Q346R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:203:133:0:0:202,1:5988,13:693.88,0.11:366.13,0.00:327.75,0.11:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,133.0:0,0:0,0:76,22:70,129:39,0:NM_194293.2(XIRP1) c.1037A>G (p.Gln346Arg),NM_194293.2(XIRP1) c.1037A>G (p.Gln346Arg):0.99,0.99:0.994618,0.994618 3 39230937 . C . . NT END=39238019;NT GT ./. 3 39237742 rs68092031 AAAGG A 17 sb,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=116;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:5:5:142:16.58:14.69:1.89:1.00:1.00:1.00:60:25.4:0:0:53:98:2:NM_194293.2(XIRP1) c.-221-u3669_-221-u3666delCCTT,NM_194293.2(XIRP1) c.-221-u3669_-221-u3666delCCTT:0.55,0.55:NOT_FOUND,NOT_FOUND 3 39238123 . G . . NT END=39238289;NT GT ./. 3 39238413 . G . . NT END=39255630;NT GT ./. 3 39255522 . G A 99 nt VT=SNV;PN=G;NN=G;SST=Single;DP=51;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:51:47:0:0:31,19,1:983,576,10:98.70,0.00,0.02:88.99,0.00,0.04:9.72,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.1,10.0,10.0:0,0,0:0,0,0:27,30,25:123,120,126:18,20,0:XM_001130287.3(LOC729454) c.68-109G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 39255871 rs7622622 C G 619 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=163;DB;DBA=NA;PAF=C/0.6544,G/0.3456;PC=0.817 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:163:100:0:0:163:5418:619.28:305.23:314.05:1.00:1.00:1.00:60:40.4:0:0:89:62:35:XM_001130287.3(LOC729454) c.308C>G (p.Thr103Ser),XM_001130287.3(LOC729454) c.308C>G (p.Thr103Ser):0.35,0.35:NOT_FOUND,NOT_FOUND 3 39256164 . G . . NT END=39306932;NT GT ./. 3 39282602 rs11271735 G GACCACC 13 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5847,GACC/.,GACCACC/0.4153,GACCACCACC/.,GACCACCACCACC/.;NP=1;NP=2;NP=27;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:20:G,GACCACC:5:5:4:0:1,4:27,125:0.00,13.32:0.00,10.44:0.00,2.88:0.00,0.96:0.00,0.96:0.00,0.99:60,60:0.0,9.8:0,0:0,0:139,67:12,82:0,8:-,chr3 g.39282602_39282603insACCACC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 39308010 . C . . NT END=39321444;NT GT ./. 3 39308293 rs4271863 A T 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4908,T/0.5092;PC=0.001;Gene=CX3CR1/NM_001337.3/0;CC=c.-9-284T>A;VC=Intron;Gene=CX3CR1/NM_001171172.1/0;CC=c.-9-284T>A;VC=Intron;Gene=CX3CR1/NM_001171171.1/0;CC=c.-9-284T>A;VC=Intron;Gene=CX3CR1/NM_001171174.1/1;CC=c.88-284T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:0:0:1:10:302:34.87:0.00:34.87:1.00:0.00:1.00:60:44.7:0:0:108:42:18:NM_001171174.1(CX3CR1) c.88-284T>A,NM_001171174.1(CX3CR1) c.88-284T>A:0.46,0.46:NOT_FOUND,NOT_FOUND 3 39321218 rs2669845 T C 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.08646,C/0.9135;PC=0.003;Gene=CX3CR1/NM_001337.3/0;CC=c.-10+227A>G;VC=Intron;Gene=CX3CR1/NM_001171172.1/0;CC=c.-10+522A>G;VC=Intron;Gene=CX3CR1/NM_001171171.1/0;CC=c.-10+1316A>G;VC=Intron;Gene=CX3CR1/NM_001171174.1/1;CC=c.87+1882A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:262:30.43:30.43:0.00:1.00:1.00:0.00:60:58.1:0:0:48:102:36:NM_001171174.1(CX3CR1) c.87+1882A>G,NM_001171174.1(CX3CR1) c.87+1882A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 3 39321528 . C . . NT END=39321739;NT GT ./. 3 39321770 rs9813187 G A 241 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=G/0.9038,A/0.09625;Gene=CX3CR1/NM_001171172.1/0;CC=c.-40C>T;VC=5UTR;Gene=CX3CR1/NM_001171171.1/0;CC=c.-10+764C>T;VC=Intron;Gene=CX3CR1/NM_001171174.1/1;CC=c.87+1330C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:144:117:0:0:77,1,66:2466,8,2089:240.52,-0.16,0.00:161.50,-0.08,0.00:79.02,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.3,74.0,22.9:0,0,0:0,0,0:64,142,58:81,7,84:29,0,29:NM_001171174.1(CX3CR1) c.87+1330C>T,-:0.1,-:NOT_FOUND,- 3 39321867 rs871610 C T 216 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=C/0.6783,T/0.3217;Gene=CX3CR1/NM_001171172.1/0;CC=c.-137G>A;VC=5UTR;Gene=CX3CR1/NM_001171171.1/0;CC=c.-10+667G>A;VC=Intron;Gene=CX3CR1/NM_001171174.1/1;CC=c.87+1233G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:160:92:0:0:89,71:2783,2304:0.00,216.49:0.00,98.71:0.00,117.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.6,40.7:0,0:0,0:81,80:66,68:34,46:-,NM_001171174.1(CX3CR1) c.87+1233G>A:-,0.34:-,NOT_FOUND 3 39321931 . g . . NT END=39322533;NT GT ./. 3 39322466 rs871144 T C 116 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.3057,C/0.6943;Gene=CX3CR1/NM_001171171.1/0;CC=c.-10+68A>G;VC=Intron;Gene=CX3CR1/NM_001171174.1/1;CC=c.87+634A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:33:0:0:35:997:116.24:103.37:12.87:1.00:1.00:1.00:60:40.6:0:0:62:89:39:NM_001171174.1(CX3CR1) c.87+634A>G,NM_001171174.1(CX3CR1) c.87+634A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 3 39322665 rs938203 A G 388 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.152,G/0.848;Gene=CX3CR1/NM_001171171.1/0;CC=c.-141T>C;VC=5UTR;Gene=CX3CR1/NM_001171174.1/1;CC=c.87+435T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:104:70:0:0:104:3388:388.34:151.05:237.30:1.00:1.00:1.00:60:37.2:0:0:76:67:36:NM_001171174.1(CX3CR1) c.87+435T>C,NM_001171174.1(CX3CR1) c.87+435T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 3 39322765 . A . . NT END=39323099;NT GT ./. 3 39322826 rs2669846 T G 47 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.405,G/0.595;Gene=CX3CR1/NM_001171174.1/1;CC=c.87+274A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:5:0:0:16,15:483,478:46.56,0.00:5.19,0.00:41.37,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:35.4,23.3:0,0:0,0:74,102:77,43:55,18:NM_001171174.1(CX3CR1) c.87+274A>C,-:0.56,-:NOT_FOUND,- 3 39323163 rs11715522 A C 162 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.5771,C/0.4229;Gene=CX3CR1/NM_001171174.1/1;CC=c.24T>G;ProtCh=p.F8L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:82:53:0:0:34,48:1039,1633:0.00,162.08:0.00,63.75:0.00,98.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,47.3:0,0:0,0:94,90:47,51:21,33:-,NM_001171174.1(CX3CR1) c.24T>G (p.Phe8Leu):-,0.46:-,0.328641 3 39323187 . c . . NT END=39373822;NT GT ./. 3 39323423 rs11917223 C G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.633,G/0.367 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G:4:0:0:0:1,3:33,100:0.00,10.45:0.00,0.00:0.00,10.45:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,52.3:0,0:0,0:97,120:54,30:0,21:-,NM_001171174.1(CX3CR1) c.-40-u197G>C:-,0.37:-,NOT_FOUND 3 39329420 rs10780028 A G 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5937,G/0.4063 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,G:4:2:0:0:2,2:68,69:0.00,6.65:0.00,3.43:0.00,3.22:0.00,0.51:0.00,0.79:0.00,0.89:60,60:12.0,63.5:0,0:0,0:74,36:76,115:21,20:-,NM_001171174.1(CX3CR1) c.-40-u6194T>C:-,0.4:-,NOT_FOUND 3 39364330 rs534900359 TTG T 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=76;PC=0.068;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:135:15.41:7.70:7.70:1.00:1.00:1.00:60:0.0:0:0:69:57:13:NM_005201.3(CCR8) c.-138-u6866_-138-u6865delTG,NM_005201.3(CCR8) c.-138-u6866_-138-u6865delTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 39374891 . G . . NT END=39425215;NT GT ./. 3 39376485 rs2649756 T C 119 nt VT=SNV;PN=T;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.05072,C/0.9493;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:49:0:0:35,20:1175,649:118.54,0.00:97.90,0.00:20.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,1.9:0,0:0,0:30,32:115,116:19,18:chr3 g.39376484T>C (intergenic),-:0.95,-:NOT_FOUND,- 3 39376969 rs2649755 T C 113 nt VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.05012,C/0.9499;PC=0.945 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:66:41:0:0:38,28:1149,948:113.34,0.00:58.36,0.00:54.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,7.8:0,0:0,0:64,76:87,75:34,48:chr3 g.39376968T>C (intergenic),-:0.95,-:NOT_FOUND,- 3 39400171 rs3136660 G C 43 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.05072,C/0.9493;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:23:22:0:0:13,10:440,321:43.36,0.00:33.12,0.00:10.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,13.2:0,0:0,0:63,38:88,103:32,34:chr3 g.39400170G>C (intergenic),-:0.95,-:NOT_FOUND,- 3 39400941 rs6806563 T C 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.05072,C/0.9493;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:C,T:28:16:0:0:6,22:179,715:14.46,0.00:4.96,0.00:9.49,0.00:0.91,0.00:0.95,0.00:0.97,0.00:60,60:35.5,7.7:0,0:0,0:115,75:35,63:18,31:chr3 g.39400940T>C (intergenic),-:0.94,-:NOT_FOUND,- 3 39425285 . G . . NT END=39430985;NT GT ./. 3 39431081 rs2270770 G A 106 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.5839,A/0.4161;PC=1.000;Gene=SLC25A38/NM_017875.2/1;CC=c.165G>A;ProtCh=p.L55=;VC=Silent;DM=SLC25A38/Mito_carr;DM=SLC25A38/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:86:53:0:0:36,50:1140,1691:105.77,0.00:51.01,0.00:54.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.1,2.4:0,0:0,0:76,79:68,69:30,36:NM_017875.2(SLC25A38) c.165G>A (p.(=)),-:0.45,-:0.369752,- 3 39431108 . G . . NT END=39431913;NT GT ./. 3 39431999 . G . . NT END=39432931;NT GT ./. 3 39432247 rs2276715 C T 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.597,T/0.403;Gene=SLC25A38/NM_017875.2/1;CC=c.276+249C>T;VC=Intron;DM=SLC25A38/Mito_carr;DM=SLC25A38/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,T:6:0:0:0:1,5:34,160:0.00,17.21:0.00,0.00:0.00,17.21:0.00,0.99:0.00,0.00:0.00,0.99:60,60:34.0,40.6:0,0:0,0:77,113:74,38:0,29:-,NM_017875.2(SLC25A38) c.276+249C>T:-,0.44:-,NOT_FOUND 3 39432785 rs45503293 C T 47 nt VT=SNV;PN=T;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.8946,T/0.1054;PC=0.002;Gene=SLC25A38/NM_017875.2/1;CC=c.277-147C>T;VC=Intron;DM=SLC25A38/Mito_carr;DM=SLC25A38/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:32:0:0:17,15:541,490:0.00,46.56:0.00,46.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.6,33.7:0,0:0,0:37,52:114,99:11,31:-,NM_017875.2(SLC25A38) c.277-147C>T:-,0.11:-,NOT_FOUND 3 39433112 . G . . NT END=39433343;NT GT ./. 3 39433147 rs1995236 G A 373 nt VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.1633,A/0.8367;Gene=SLC25A38/NM_017875.2/1;CC=c.456+36G>A;VC=Intron;DM=SLC25A38/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:99:44:0:0:99:3255:372.54:120.31:252.23:1.00:1.00:1.00:60:39.5:0:0:92:57:31:NM_017875.2(SLC25A38) c.456+36G>A,NM_017875.2(SLC25A38) c.456+36G>A:0.88,0.88:0.87252,0.87252 3 39433513 . G . . NT END=39435900;NT GT ./. 3 39436068 . G . . NT END=39437888;NT GT ./. 3 39437665 rs11712093 C T 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.9269,T/0.07308;PC=0.005;Gene=SLC25A38/NM_017875.2/1;CC=c.793-224C>T;VC=Intron;DM=SLC25A38/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:C,T:9:9:0:0:6,3:176,91:0.00,8.05:0.00,8.05:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:37.7,74.7:0,0:0,0:42,78:107,73:11,31:-,NM_017875.2(SLC25A38) c.793-224C>T:-,0.09:-,NOT_FOUND 3 39437714 rs73058289 A T 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.9405,T/0.0595;Gene=SLC25A38/NM_017875.2/1;CC=c.793-175A>T;VC=Intron;DM=SLC25A38/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:21:21:0:0:13,8:393,252:0.00,22.97:0.00,22.97:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:31.4,71.0:0,0:0,0:17,42:134,108:11,7:-,NM_017875.2(SLC25A38) c.793-175A>T:-,0.08:-,NOT_FOUND 3 39437800 rs9877539 A G 209 nt VT=SNV;PN=G;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.1234,G/0.8766,T/.;Gene=SLC25A38/NM_017875.2/1;CC=c.793-89A>G;VC=Intron;DM=SLC25A38/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:G:59:54:0:0:59:1810:209.03:176.12:32.91:1.00:1.00:1.00:60:41.9:0:0:47:102:29:NM_017875.2(SLC25A38) c.793-89A>G,NM_017875.2(SLC25A38) c.793-89A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 39438012 . C . . NT END=39449144;NT GT ./. 3 39449137 rs1803893 T C 54 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.5633,C/0.4367;PC=1.000;Gene=RPSA/NM_001304288.1/1;CC=c.-8T>C;VC=5UTR;Gene=RPSA/NM_002295.5/0;CC=c.-8T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:30:0:0:17,29:588,916:53.77,0.00:28.20,0.00:25.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,4.2:0,0:0,0:41,72:101,76:18,22:NM_002295.4(RPSA) c.-8T>C,-:0.45,-:NOT_FOUND,- 3 39449278 . G . . NT END=39450096;NT GT ./. 3 39449810 rs3772139 A C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1647,C/0.8353;Gene=RPSA/NM_001304288.1/1;CC=c.134-287A>C;VC=Intron;Gene=RPSA/NM_002295.5/0;CC=c.134-287A>C;VC=Intron;DM=RPSA/Ribosomal_S2;DM=RPSA/Ribosomal_S2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:236:26.94:26.94:0.00:1.00:1.00:0.00:60:46.1:0:0:22:129:9:NM_002295.4(RPSA) c.134-287A>C,NM_002295.4(RPSA) c.134-287A>C:0.88,0.88:NOT_FOUND,NOT_FOUND 3 39450216 . G . . NT END=39452244;NT GT ./. 3 39452123 rs2077797 G A 70 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.6014,A/0.3986;PC=0.001;Gene=RPSA/NM_001304288.1/1;CC=c.268-122G>A;VC=Intron;Gene=RPSA/NM_002295.5/0;CC=c.253-122G>A;VC=Intron;DM=RPSA/Ribosomal_S2;DM=RPSA/Ribosomal_S2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:44:42:0:0:23,21:722,625:69.96,0.00:67.64,0.00:2.32,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:73.6,12.3:0,0:0,0:32,36:118,115:22,21:NM_002295.4(RPSA) c.253-122G>A,-:0.44,-:NOT_FOUND,- 3 39452129 rs2077799 G T 71 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.4878,T/0.5122;Gene=RPSA/NM_001304288.1/1;CC=c.268-116G>T;VC=Intron;Gene=RPSA/NM_002295.5/0;CC=c.253-116G>T;VC=Intron;DM=RPSA/Ribosomal_S2;DM=RPSA/Ribosomal_S2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:47:45:0:0:24,23:752,745:0.00,71.36:0.00,69.33:0.00,2.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,73.0:0,0:0,0:31,32:119,119:20,17:-,NM_002295.4(RPSA) c.253-116G>T:-,0.54:-,NOT_FOUND 3 39452491 . G . . NT END=39453139;NT GT ./. 3 39453057 rs2269349 C T 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.4878,T/0.5122;Gene=RPSA/NM_001304288.1/1;CC=c.514-83C>T;VC=Intron;Gene=RPSA/NM_002295.5/0;CC=c.499-83C>T;VC=Intron;DM=RPSA/Ribosomal_S2;DM=RPSA/Ribosomal_S2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:42:34:0:0:1,27,14:11,867,451:-0.03,0.00,40.34:0.08,0.00,33.53:-0.11,0.00,6.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.0,6.4,46.7:0,0,0:0,0,0:37,31,46:77,119,95:0,27,29:-,NM_002295.4(RPSA) c.499-83C>T:-,0.54:-,NOT_FOUND 3 39453269 . G . . NT END=39453386;NT GT ./. 3 39453553 . G . . NT END=39453764;NT GT ./. 3 39453610 rs2723 C T 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.6012,T/0.3988;Gene=RPSA/NM_001304288.1/1;CC=c.808+58C>T;VC=Intron;Gene=RPSA/NM_002295.5/0;CC=c.793+58C>T;VC=Intron;DM=RPSA/40S_SA_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:24:0:0:33,29:1124,897:0.00,84.88:0.00,23.34:0.00,61.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,49.6:0,0:0,0:93,115:58,36:28,27:-,NM_002295.4(RPSA) c.793+58C>T:-,0.44:-,NOT_FOUND 3 39453866 . C . . NT END=39543560;NT GT ./. 3 39543767 . G . . NT END=39543953;NT GT ./. 3 39544254 . a . . NT END=39554873;NT GT ./. 3 39554786 rs2233204 C T 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8271,T/0.1729;Gene=MOBP/NM_001278322.1/1;CC=c.621-88C>T;VC=Intron;Gene=MOBP/NM_182935.3/0;CC=c.207-88C>T;VC=Intron;Gene=MOBP/NR_103506.1/0;VC=NonCoding;Gene=MOBP/NR_003090.2/0;VC=NonCoding;Gene=MOBP/NR_103504.1/0;VC=NonCoding;Gene=MOBP/NR_103505.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:23:0:0:12,12:391,347:0.00,33.17:0.00,25.78:0.00,7.39:0.00,1.00:0.00,1.00:0.00,0.99:60,60:16.7,31.7:0,0:0,0:33,76:116,75:20,33:-,NM_182935.2(MOBP) c.207-88C>T:-,0.2:-,NOT_FOUND 3 39554914 . C . . NT END=39942307;NT GT ./. 3 39685720 rs9869464 T C 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01478,C/0.9852;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:165:18.88:11.43:7.45:1.00:1.00:1.00:60:33.0:0:0:116:34:7:chr3 g.39685719T>C (intergenic),chr3 g.39685719T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 3 39685897 rs138748185 G A 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9958,A/0.004193;NP=81;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,G:8:6:0:0:5,3:145,95:14.55,0.00:11.30,0.00:3.25,0.00:0.97,0.00:1.00,0.00:0.88,0.00:60,60:29.0,11.3:0,0:0,0:87,36:64,115:27,35:chr3 g.39685896G>A (intergenic),-:0.01,-:NOT_FOUND,- 3 39686013 rs78908069 A T 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.98,T/0.01997;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:16:16:0:0:9,7:274,211:0.00,19.67:0.00,20.05:0.00,-0.37:0.00,0.98:0.00,0.98:0.00,0.84:60,60:20.4,37.6:0,0:0,0:39,66:112,84:35,39:-,chr3 g.39686012A>T (intergenic):-,0.02:-,NOT_FOUND 3 39942418 . G . . NT END=40085540;NT GT ./. 3 39961184 rs71091779 GGT G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=64;Gene=MYRIP/NM_001284423.1/1;CC=c.110+18801_110+18802delTG;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.110+18801_110+18802delTG;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.-21+18801_-21+18802delTG;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.110+18801_110+18802delTG;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;DM=MYRIP/FYVE_2;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GGT,G:4:4:0:3:1,3:36,94:0.00,9.85:0.00,4.93:0.00,4.93:0.00,0.85:0.00,0.85:0.00,0.85:60,70:0.0,3.3:0,0:0,0:110,81:26,38:0,19:-,NM_015460.2(MYRIP) c.110+18768_110+18769delGT:-,NOT_FOUND:-,NOT_FOUND 3 40085298 rs6599076 T G 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.02416,G/0.9758;PC=0.266;Gene=MYRIP/NM_001284423.1/1;CC=c.111-243T>G;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.111-243T>G;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.-20-243T>G;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.111-243T>G;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;DM=MYRIP/FYVE_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:138:15.71:15.71:0.00:1.00:1.00:0.00:60:34.5:0:0:52:96:21:NM_015460.2(MYRIP) c.111-243T>G,NM_015460.2(MYRIP) c.111-243T>G:0.98,0.98:NOT_FOUND,NOT_FOUND 3 40085763 . G . . NT END=40112606;NT GT ./. 3 40112540 rs6786793 G A 56 nt VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8353,A/0.1647;PC=0.095;Gene=MYRIP/NM_001284423.1/1;CC=c.332+26778G>A;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.332+26778G>A;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.202+26778G>A;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.332+26778G>A;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;DM=MYRIP/FYVE_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:32:0:0:18,14:569,469:55.96,0.00:49.09,0.00:6.87,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:40.4,4.4:0,0:0,0:54,41:95,110:16,28:NM_015460.2(MYRIP) c.332+26778G>A,-:0.16,-:NOT_FOUND,- 3 40112713 . G . . NT END=40141501;NT GT ./. 3 40141240 rs2693479 C T 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6382,T/0.3618;Gene=MYRIP/NM_001284423.1/1;CC=c.333-51299C>T;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.333-51299C>T;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.202+55478C>T;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.333-51299C>T;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;DM=MYRIP/FYVE_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:T:5:5:0:0:5:97:11.94:11.94:0.00:1.00:1.00:0.00:60:56.0:0:0:59:91:25:NM_015460.2(MYRIP) c.333-51299C>T,NM_015460.2(MYRIP) c.333-51299C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 3 40141742 . G . . NT END=40192538;NT GT ./. 3 40192676 . G . . NT END=40204220;NT GT ./. 3 40204178 rs1714414 T C 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5869,C/0.4131;Gene=MYRIP/NM_001284423.1/1;CC=c.470-43T>C;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.470-43T>C;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.203-43T>C;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.470-43T>C;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;Gene=MYRIP/NM_001284426.1/0;CC=c.-92-43T>C;VC=Intron;DM=MYRIP/Rab_eff_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:21:0:0:12,14:386,471:36.53,0.00:28.53,0.00:7.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,0.4:0,0:0,0:73,52:76,97:34,16:NM_015460.2(MYRIP) c.470-43T>C,-:0.43,-:0.468861,- 3 40204302 . G . . NT END=40208336;NT GT ./. 3 40208435 . G . . NT END=40208649;NT GT ./. 3 40208731 . G . . NT END=40211440;NT GT ./. 3 40211585 . G . . NT END=40223710;NT GT ./. 3 40223865 . G . . NT END=40231316;NT GT ./. 3 40231883 rs1317317 C T 463 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.1675,T/0.8325;Gene=MYRIP/NM_001284423.1/1;CC=c.1594C>T;ProtCh=p.L532=;VC=Silent;Gene=MYRIP/NM_001284424.1/0;CC=c.1594C>T;ProtCh=p.L532=;VC=Silent;Gene=MYRIP/NM_001284425.1/0;CC=c.1327C>T;ProtCh=p.L443=;VC=Silent;Gene=MYRIP/NM_015460.3/0;CC=c.1594C>T;ProtCh=p.L532=;VC=Silent;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;Gene=MYRIP/NM_001284426.1/0;CC=c.1033C>T;ProtCh=p.L345=;VC=Silent;Gene=EIF1B-AS1/NR_033965.1/0;VC=NonCoding;DM=MYRIP/Rab_eff_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:131:85:0:0:1,1,129:8,10,4036:0.00,0.08,462.85:0.00,-0.00,204.09:0.00,0.08,258.76:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.0,166.0,41.5:0,0,0:0,0,0:139,96,91:11,55,59:0,0,31:NM_015460.2(MYRIP) c.1594C>T (p.(=)),NM_015460.2(MYRIP) c.1594C>T (p.(=)):0.85,0.85:0.857758,0.857758 3 40231955 . G . . NT END=40251344;NT GT ./. 3 40251282 rs2679798 G A 226 nt VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.6931,A/0.3069;PC=0.186;Gene=MYRIP/NM_001284423.1/1;CC=c.1666-63G>A;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.1666-63G>A;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.1399-63G>A;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.1666-63G>A;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;Gene=MYRIP/NM_001284426.1/0;CC=c.1105-63G>A;VC=Intron;Gene=EIF1B-AS1/NR_033965.1/0;VC=NonCoding;DM=MYRIP/Rab_eff_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A:63:53:0:0:63:1961:225.93:169.26:56.67:1.00:1.00:1.00:60:47.5:0:0:55:96:29:NM_015460.2(MYRIP) c.1666-63G>A,NM_015460.2(MYRIP) c.1666-63G>A:0.36,0.36:NOT_FOUND,NOT_FOUND 3 40251392 rs1799418 T C 329 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=T/0.632,C/0.368;Gene=MYRIP/NM_001284423.1/1;CC=c.1713T>C;ProtCh=p.D571=;VC=Silent;Gene=MYRIP/NM_001284424.1/0;CC=c.1713T>C;ProtCh=p.D571=;VC=Silent;Gene=MYRIP/NM_001284425.1/0;CC=c.1446T>C;ProtCh=p.D482=;VC=Silent;Gene=MYRIP/NM_015460.3/0;CC=c.1713T>C;ProtCh=p.D571=;VC=Silent;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;Gene=MYRIP/NM_001284426.1/0;CC=c.1152T>C;ProtCh=p.D384=;VC=Silent;Gene=EIF1B-AS1/NR_033965.1/0;VC=NonCoding;DM=MYRIP/Rab_eff_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:90:62:0:0:89,1:2882,11:328.71,0.00:175.93,0.00:152.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.7,23.0:0,0:0,0:77,14:73,136:36,0:NM_015460.2(MYRIP) c.1713T>C (p.(=)),NM_015460.2(MYRIP) c.1713T>C (p.(=)):0.42,0.42:0.456097,0.456097 3 40251585 . G . . NT END=40275349;NT GT ./. 3 40251628 rs1799419 G A 159 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.632,A/0.368;Gene=MYRIP/NM_001284423.1/1;CC=c.1905+44G>A;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.1905+44G>A;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.1638+44G>A;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.1905+44G>A;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;Gene=MYRIP/NM_001284426.1/0;CC=c.1344+44G>A;VC=Intron;Gene=EIF1B-AS1/NR_033965.1/0;VC=NonCoding;DM=MYRIP/Rab_eff_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A,C:44:16:0:0:43,1:1390,12:159.00,0.30:44.22,0.00:114.78,0.30:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.9,59.0:0,0:0,0:109,145:42,6:18,0:NM_015460.2(MYRIP) c.1905+44G>A,NM_015460.2(MYRIP) c.1905+44G>A:0.42,0.42:0.455468,0.455468 3 40275545 . G . . NT END=40285936;NT GT ./. 3 40286099 . G . . NT END=40291712;NT GT ./. 3 40291818 . G . . NT END=40291929;NT GT ./. 3 40291991 . G . . NT END=40293371;NT GT ./. 3 40292238 rs9827024 G A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6322,A/0.3678;PC=0.002;Gene=MYRIP/NM_001284423.1/1;CC=c.2428+248G>A;VC=Intron;Gene=MYRIP/NM_001284424.1/0;CC=c.2233+248G>A;VC=Intron;Gene=MYRIP/NM_001284425.1/0;CC=c.2161+248G>A;VC=Intron;Gene=MYRIP/NM_015460.3/0;CC=c.2428+248G>A;VC=Intron;Gene=MYRIP/NR_104316.1/0;VC=NonCoding;Gene=MYRIP/NM_001284426.1/0;CC=c.1867+248G>A;VC=Intron;Gene=EIF1B-AS1/NR_033965.1/0;VC=NonCoding;DM=MYRIP/Rab_eff_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:0:0:0:5:141:16.43:0.00:16.43:1.00:0.00:1.00:60:28.2:0:0:120:29:14:NM_015460.2(MYRIP) c.2428+248G>A,NM_015460.2(MYRIP) c.2428+248G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 3 40293491 . G . . NT END=40299624;NT GT ./. 3 40299658 . C . . NT END=40351432;NT GT ./. 3 40351140 rs5004340 C G 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03894,G/0.9611;PC=0.016;Gene=EIF1B-AS1/NR_033965.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:90:10.84:10.84:0.00:1.00:1.00:0.00:60:53.5:0:0:43:107:7:NR_033965.1(EIF1B-AS1) n.50G>C,NR_033965.1(EIF1B-AS1) n.50G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 40351464 . G . . NT END=40352383;NT GT ./. 3 40352125 rs4973915 G C 23 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.03894,C/0.9611;PC=0.001;Gene=EIF1B/NM_005875.2/1;CC=c.32-259G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C,T:8:8:0:0:7,1:203,8:23.20,0.46:23.20,0.46:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.1,81.0:0,0:0,0:86,104:65,42:23,0:NM_005875.2(EIF1B) c.32-259G>C,NM_005875.2(EIF1B) c.32-259G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 40352355 rs577972908 AT A 47 idl,rn VT=DEL;SST=Single;DP=81;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=150;Gene=EIF1B/NM_005875.2/1;CC=c.32-13delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,I,A:76:72:6:22:53,6,17:1652,188,713:0.00,13.12,46.77:0.00,8.44,29.25:0.00,4.68,17.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:24.9,14.7,17.4:0,0,5:0,0,0:52,54,37:94,96,111:31,17,17:-,NM_005875.2(EIF1B) c.32-28delT:-,NOT_FOUND:-,NOT_FOUND 3 40352548 . G . . NT END=40352960;NT GT ./. 3 40352640 rs1454490 A G 102 nt VT=SNV;PN=T;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.04553,G/0.9545;Gene=EIF1B/NM_005875.2/1;CC=c.195+93A>G;VC=Intron;DM=EIF1B/SUI1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:C,G:28:5:0:0:1,27:10,896:0.29,102.02:0.00,13.46:0.29,88.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:139.0,37.3:0,0:0,0:43,97:108,54:0,30:NM_005875.2(EIF1B) c.195+93A>G,NM_005875.2(EIF1B) c.195+93A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 40353063 . G . . NT END=40353460;NT GT ./. 3 40353259 rs1470937 T G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.04573,G/0.9543;Gene=EIF1B/NM_005875.2/1;CC=c.297+197T>G;VC=Intron;DM=EIF1B/SUI1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:5:0:0:10:276:32.29:14.21:18.08:1.00:1.00:1.00:60:45.3:0:0:74:74:41:NM_005875.2(EIF1B) c.297+197T>G,NM_005875.2(EIF1B) c.297+197T>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 40353506 . A . . NT END=40429548;NT GT ./. 3 40429338 rs12493020 T G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.04133,G/0.9587;Gene=ENTPD3/NM_001291961.1/0;CC=c.-12-199T>G;VC=Intron;Gene=ENTPD3/NM_001248.3/0;CC=c.-12-199T>G;VC=Intron;Gene=ENTPD3/NM_001291960.1/1;CC=c.-12-199T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:221:25.89:25.89:0.00:1.00:1.00:0.00:60:70.8:0:0:47:104:34:NM_001248.2(ENTPD3) c.-12-199T>G,NM_001248.2(ENTPD3) c.-12-199T>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 40429589 . G . . NT END=40433513;NT GT ./. 3 40433642 . G . . NT END=40442384;NT GT ./. 3 40442503 . G . . NT END=40453302;NT GT ./. 3 40453454 . G . . NT END=40456171;NT GT ./. 3 40456332 . G . . NT END=40457330;NT GT ./. 3 40457565 . G . . NT END=40464340;NT GT ./. 3 40464614 . G . . NT END=40464781;NT GT ./. 3 40464893 . G . . NT END=40465298;NT GT ./. 3 40465455 . G . . NT END=40465496;NT GT ./. 3 40465660 . G . . NT END=40468762;NT GT ./. 3 40469000 . G . . NT END=40498851;NT GT ./. 3 40498845 rs2276868 C T 229 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.529,T/0.471;PC=1.000;Gene=RPL14/NM_003973.4/0;CC=c.-7C>T;VC=5UTR;Gene=RPL14/NM_001034996.2/1;CC=c.-118C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:T:59:54:0:0:59:2007:228.80:158.53:70.27:1.00:1.00:1.00:60:60.6:0:0:54:94:24:NM_001034996.2(RPL14) c.-118C>T,NM_001034996.2(RPL14) c.-118C>T:0.52,0.52:0.555513,0.555513 3 40498933 rs4973904 A G 279 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.02915,G/0.9708,T/.;Gene=RPL14/NM_003973.4/0;CC=c.3+79A>G;VC=Intron;Gene=RPL14/NM_001034996.2/1;CC=c.-30A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:76:50:0:0:1,75:12,2453:0.00,279.01:0.00,112.52:0.00,166.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:145.0,54.5:0,0:0,0:13,82:138,58:0,32:NM_001034996.2(RPL14) c.-30A>G,NM_001034996.2(RPL14) c.-30A>G:0.98,0.98:0.970117,0.970117 3 40498966 . G . . NT END=40499380;NT GT ./. 3 40499182 rs2276870 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.3612,T/0.6388;Gene=RPL14/NM_003973.4/0;CC=c.4-199C>T;VC=Intron;Gene=RPL14/NM_001034996.2/1;CC=c.4-199C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C,G,T:9:8:0:0:1,1,7:10,9,210:0.00,0.46,22.94:0.00,0.46,19.07:0.00,0.00,3.87:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.85:60,60,60:30.0,9.0,43.3:0,0,0:0,0,0:34,145,76:117,6,75:0,0,21:NM_001034996.2(RPL14) c.4-199C>T,NM_001034996.2(RPL14) c.4-199C>T:0.65,0.65:NOT_FOUND,NOT_FOUND 3 40499273 rs2276871 A G 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.361,G/0.639;Gene=RPL14/NM_003973.4/0;CC=c.4-108A>G;VC=Intron;Gene=RPL14/NM_001034996.2/1;CC=c.4-108A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:21:0:0:22:628:73.14:69.45:3.70:1.00:1.00:1.00:60:37.2:0:0:43:106:20:NM_001034996.2(RPL14) c.4-108A>G,NM_001034996.2(RPL14) c.4-108A>G:0.65,0.65:NOT_FOUND,NOT_FOUND 3 40499483 . G . . NT END=40500132;NT GT ./. 3 40500228 . G . . NT END=40502897;NT GT ./. 3 40502998 . G . . NT END=40503098;NT GT ./. 3 40503153 . G . . NT END=40503429;NT GT ./. 3 40503520 rs57354599 A ACTGCTGCTGCTGCTG 92 idl,lc VT=INS;SST=Single;DP=111;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7051,ACTG/.,ACTGCTG/0.07149,ACTGCTGCTG/0.03415,ACTGCTGCTGCTGCTG/0.1893;DB;DBA=NA;PAF=A/0.7051,ACTGCTG/0.07149,ACTGCTGCTG/0.03415,ACTGCTGCTGCTGCTG/0.1893;NP=12;NP=68;PC=0.002;Gene=RPL14/NM_003973.4/0;CC=c.477_478insGCTGCTGCTGCTGCT;ProtCh=p.A159_K160insAAAAA;VC=InFrameIns;Gene=RPL14/NM_001034996.2/1;CC=c.477_478insGCTGCTGCTGCTGCT;ProtCh=p.A159_K160insAAAAA;VC=InFrameIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACTGCTGCTGCTGCTG,D:108:87:35:1:75,32,1:2360,1103,33:0.00,91.78,1.45:0.00,59.91,1.55:0.00,31.87,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,57:7.3,8.4,0.0:0,3,0:0,0,0:64,53,33:85,96,116:37,15,0:-,NM_001034996.2(RPL14) c.448GCT[15] (p.Ala150[15]):-,NOT_FOUND:-,NOT_FOUND 3 40503724 . G . . NT END=40519448;NT GT ./. 3 40503809 rs11539046 G A 177 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.3379,A/0.6621;Gene=RPL14/NM_003973.4/0;CC=c.*86G>A;VC=3UTR;Gene=RPL14/NM_001034996.2/1;CC=c.*86G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:133:A:48:2:0:0:48:1543:177.06:3.42:173.64:1.00:1.00:1.00:60:46.8:0:0:115:34:23:NM_001034996.2(RPL14) c.*86G>A,NM_001034996.2(RPL14) c.*86G>A:0.66,0.66:NOT_FOUND,NOT_FOUND 3 40503864 rs35229215 CTT C 13 idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CTT/0.3506,C/0.6494;NP=1;PC=0.016;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:CTT,T,C:15:0:0:10:8,2,5:262,23,272:0.00,1.01,12.98:0.00,0.00,0.00:0.00,1.01,12.98:0.00,0.00,0.85:0.00,0.00,0.00:0.00,0.00,0.85:60,60,60:41.1,214.5,95.6:0,0,5:0,0,0:141,88,83:9,62,61:8,11,12:-,chr3 g.40503865_40503866delTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 40519429 rs4553952 T C 178 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.006989,C/0.993;NP=1803;Gene=ZNF619/NM_001145082.2/1;CC=c.-42T>C;VC=5UTR;Gene=ZNF619/NM_001145093.2/0;CC=c.-42T>C;VC=5UTR;Gene=ZNF619/NR_026746.2/0;VC=NonCoding;Gene=ZNF619/NM_001145083.1/0;CC=c.-20T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:47:38:0:0:47:1553:177.65:114.39:63.26:1.00:1.00:1.00:60:43.2:0:0:75:72:33:NM_001145082.2(ZNF619) c.=,NM_001145082.2(ZNF619) c.=:0.99,0.99:0.986421,0.986421 3 40519495 . G . . NT END=40523353;NT GT ./. 3 40523508 . G . . NT END=40523690;NT GT ./. 3 40523841 . G . . NT END=40524078;NT GT ./. 3 40524196 . G . . NT END=40528296;NT GT ./. 3 40529733 . G . . NT END=40547843;NT GT ./. 3 40547868 . G . . NT END=40552960;NT GT ./. 3 40552916 rs6790578 T C 120 nt VT=SNV;PN=A;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.6717,C/0.3283;Gene=ZNF620/NM_001256167.1/0;CC=c.-77-4435T>C;VC=Intron;Gene=ZNF620/NM_175888.3/1;CC=c.25-45T>C;VC=Intron;Gene=ZNF620/NM_001256168.1/0;CC=c.-77-4435T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:115:103:0:0:40,75:1335,2461:120.31,0.00:96.44,0.00:23.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,5.7:0,0:0,0:65,49:85,90:35,28:NM_175888.3(ZNF620) c.25-45T>C,-:0.32,-:0.296171,- 3 40553088 . G . . NT END=40553892;NT GT ./. 3 40553179 . CT C 9 rn VT=DEL;SST=Single;DP=49;NP=37;Gene=ZNF620/NM_001256167.1/0;CC=c.-77-4162delT;VC=Intron;Gene=ZNF620/NM_175888.3/1;CC=c.151+102delT;VC=Intron;Gene=ZNF620/NM_001256168.1/0;CC=c.-77-4162delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:CT,T,I,C:49:8:3:4:41,1,3,4:1380,10,100,129:0.00,-0.18,6.67,8.94:0.00,-0.04,1.20,-0.19:0.00,-0.13,5.47,9.13:0.00,0.00,0.00,0.56:0.00,0.00,0.00,0.45:0.00,0.00,0.00,0.93:60,60,60,60:7.0,111.0,10.0,7.2:0,0,0,0:0,0,0,0:119,76,93,68:32,42,58,81:22,0,19,7:-,NM_175888.3(ZNF620) c.151+93delT:-,NOT_FOUND:-,NOT_FOUND 3 40554007 . G . . NT END=40557350;NT GT ./. 3 40557271 rs10550548 TTG T 119 idl,rn VT=DEL;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=174;PC=0.665;Gene=ZNF620/NM_001256167.1/0;CC=c.-77-41_-77-40delTG;VC=Intron;Gene=ZNF620/NM_175888.3/1;CC=c.266-41_266-40delTG;VC=Intron;Gene=ZNF620/NM_001256168.1/0;CC=c.-77-41_-77-40delTG;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTG,T:60:64:0:44:21,39:589,1311:0.00,118.83:0.00,101.60:0.00,17.23:0.00,1.00:0.00,1.00:0.00,0.99:60,60:19.7,35.8:0,5:0,0:119,48:32,94:24,20:-,NM_175888.3(ZNF620) c.266-79_266-78delTG:-,NOT_FOUND:-,NOT_FOUND 3 40557312 rs6804333 A G 121 nt VT=SNV;PN=G;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.6695,G/0.3305;Gene=ZNF620/NM_001256167.1/0;CC=c.-77-39A>G;VC=Intron;Gene=ZNF620/NM_175888.3/1;CC=c.266-39A>G;VC=Intron;Gene=ZNF620/NM_001256168.1/0;CC=c.-77-39A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:81:72:0:0:39,42:1180,1257:0.00,121.31:0.00,86.05:0.00,35.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.7,46.4:0,0:0,0:63,45:84,102:26,33:-,NM_175888.3(ZNF620) c.266-39A>G:-,0.33:-,0.297863 3 40558355 . G . . NT END=40567309;NT GT ./. 3 40567356 . G . . NT END=40570809;NT GT ./. 3 40570937 . G . . NT END=40570985;NT GT ./. 3 40571067 . G . . NT END=40571699;NT GT ./. 3 40571808 . G . . NT END=40573520;NT GT ./. 3 40573302 rs56351887 G A 11 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6805,A/0.3195;Gene=ZNF621/NM_001098414.2/0;CC=c.260-219G>A;VC=Intron;Gene=ZNF621/NM_001287245.1/1;CC=c.260-219G>A;VC=Intron;Gene=ZNF621/NM_198484.4/0;CC=c.260-219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,G:9:9:0:0:4,5:121,176:11.32,0.00:11.32,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:54.5,0.0:0,0:0,0:50,54:97,97:19,7:NM_198484.3(ZNF621) c.260-219G>A,-:0.32,-:NOT_FOUND,- 3 40574343 . c . . NT END=41265559;NT GT ./. 3 40613051 rs58751288 C CCACA 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=16;NP=43;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CCACA:4:3:2:1:2,2:67,67:0.00,6.45:0.00,3.22:0.00,3.23:0.00,0.51:0.00,0.89:0.00,0.89:60,60:34.0,27.5:0,0:0,0:101,43:48,107:5,1:-,chr3 g.40613051_40613052insCACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 40721654 rs71094620 C CTG 8 sb,rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=468;PC=0.001;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,CTG,D:8:6:3:1:4,3,1:135,88,24:0.00,8.14,1.74:0.00,8.65,-0.09:0.00,-0.51,1.83:0.00,0.67,0.00:0.00,0.93,0.00:0.00,0.90,0.00:60,60,60:16.2,31.7,17.0:0,0,0:0,0,0:60,20,52:81,130,99:13,15,0:-,chr3 g.40721654_40721655insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 40803102 rs681529 G C 142 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.1002,C/0.8998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:C:41:25:0:0:41:1225:141.95:78.08:63.86:1.00:1.00:1.00:60:42.5:0:0:76:75:43:chr3 g.40803101G>C (intergenic),chr3 g.40803101G>C (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 3 40803345 rs61312682 TA T 9 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;NP=14;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:TA,I,T:24:6:1:4:19,1,4:567,32,113:0.00,1.95,8.60:0.00,2.27,2.94:0.00,-0.32,5.66:0.00,0.00,0.68:0.00,0.00,0.64:0.00,0.00,0.95:60,41,60:11.7,0.0,29.2:0,0,0:0,0,0:118,131,88:33,18,62:22,0,20:-,chr3 g.40803346delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 40817096 rs667189 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1927,T/0.8073 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:133:15.21:11.33:3.88:1.00:1.00:1.00:60:69.5:0:0:22:128:15:chr3 g.40817095C>T (intergenic),chr3 g.40817095C>T (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 3 40817179 rs668680 C T 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1927,T/0.8073;NP=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:6:0:1:7:215:24.80:13.07:11.73:1.00:1.00:1.00:60:56.6:0:0:66:57:4:chr3 g.40817178C>T (intergenic),chr3 g.40817178C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 40887490 rs7639783 G GAC 6 idl,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.08267,GAC/.,GACACACAC/0.9173,GACACACACAC/.;DB;DBA=NA;PAF=G/0.08267,GACACACAC/0.9173;DB;DBA=NA;PAF=NA;NP=22;NP=5;NP=7;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,GAC:3:7:6:0:1,2:34,177:0.00,6.42:0.00,1.06:0.00,5.36:0.00,0.39:0.00,0.39:0.00,0.74:60,60:34.0,23.5:0,4:0,0:4,37:146,69:0,17:-,chr3 g.40887490_40887491insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 40887524 rs375746359 C CAG 8 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=28;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,CAG:10:9:4:0:7,3:248,130:0.00,8.37:0.00,4.35:0.00,4.02:0.00,0.60:0.00,0.91:0.00,0.91:60,60:5.3,16.0:0,1:0,0:58,41:56,103:9,15:-,chr3 g.40887524_40887525insAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 41265573 . G . . NT END=41266016;NT GT ./. 3 41266245 . G . . NT END=41266444;NT GT ./. 3 41266699 . G . . NT END=41266824;NT GT ./. 3 41267064 . G . . NT END=41267150;NT GT ./. 3 41267353 . G . . NT END=41268698;NT GT ./. 3 41268844 . G . . NT END=41274831;NT GT ./. 3 41274764 rs2691680 C A 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=2;NP=3332;Gene=CTNNB1/NM_001098209.1/0;CC=c.1082-68C>A;VC=Intron;Gene=CTNNB1/NM_001098210.1/0;CC=c.1082-68C>A;VC=Intron;Gene=CTNNB1/NM_001904.3/1;CC=c.1082-68C>A;VC=Intron;DM=CTNNB1/Arm;DM=CTNNB1/Arm GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A:20:17:0:0:20:599:69.36:60.06:9.30:1.00:1.00:1.00:60:31.6:0:0:42:108:20:NM_001904.3(CTNNB1) c.1082-68C>A,NM_001904.3(CTNNB1) c.1082-68C>A:1,1:NOT_FOUND,NOT_FOUND 3 41274936 . G . . NT END=41275019;NT GT ./. 3 41275359 . G . . NT END=41275629;NT GT ./. 3 41275789 . G . . NT END=41277214;NT GT ./. 3 41277335 . G . . NT END=41277839;NT GT ./. 3 41277991 . G . . NT END=41278078;NT GT ./. 3 41278201 . G . . NT END=41279506;NT GT ./. 3 41279568 . G . . NT END=41280624;NT GT ./. 3 41280834 . A . . NT END=41288419;NT GT ./. 3 41288484 . C . . NT END=41290979;NT GT ./. 3 41291066 . C . . NT END=41439569;NT GT ./. 3 41439756 . C . . NT END=41496987;NT GT ./. 3 41439879 rs11331714 CT C 11 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CT/0.504,C/0.496;NP=88;Gene=ULK4/NM_017886.2/1;CC=c.3493-125delA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:CT,I,C:16:0:1:4:11,1,4:349,34,129:0.00,2.37,11.03:0.00,0.00,0.00:0.00,2.37,11.03:0.00,0.00,0.75:0.00,0.00,0.00:0.00,0.00,0.75:60,60,60:6.7,0.0,2.0:0,0,0:0,0,0:134,80,87:13,71,63:14,0,23:-,NM_017886.2(ULK4) c.3493-125delA:-,NOT_FOUND:-,NOT_FOUND 3 41440044 rs542494018 AT A 8 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AT/0.2929,A/0.7071;DB;DBA=NA;PAF=AT/0.2929,A/0.7071;NP=36;PC=0.002;Gene=ULK4/NM_017886.2/1;CC=c.3493-290delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AT,A:5:0:0:3:2,3:64,85:0.00,8.47:0.00,0.00:0.00,8.47:0.00,0.78:0.00,0.00:0.00,0.78:60,60:22.5,8.3:0,0:0,0:138,14:12,137:8,6:-,NM_017886.2(ULK4) c.3493-290delA:-,NOT_FOUND:-,NOT_FOUND 3 41496752 rs2270605 A C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7157,C/0.2843;PC=0.008;Gene=ULK4/NM_017886.2/1;CC=c.3492+236T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:A,C:5:5:0:0:3,2:73,72:0.00,6.70:0.00,6.70:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:4.0,41.0:0,0:0,0:31,99:120,51:5,43:-,NM_017886.2(ULK4) c.3492+236T>G:-,0.26:-,NOT_FOUND 3 41497087 . C . . NT END=41504577;NT GT ./. 3 41497165 rs9841301 G A 62 nt VT=SNV;PN=C;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7173,A/0.2827;Gene=ULK4/NM_017886.2/1;CC=c.3394-79C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:39:5:0:0:20,18,1:638,527,35:61.91,0.00,2.19:2.21,0.00,-0.03:59.71,0.00,2.22:1.00,0.00,0.00:0.97,0.00,0.00:1.00,0.00,0.00:60,60,60:52.5,11.2,35.0:0,0,0:0,0,0:87,107,82:63,43,68:26,26,0:NM_017886.2(ULK4) c.3394-79C>T,-:0.26,-:NOT_FOUND,- 3 41504745 . C . . NT END=41607515;NT GT ./. 3 41504866 rs2291758 A G 51 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.7326,G/0.2674;Gene=ULK4/NM_017886.2/1;CC=c.3227-122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:2:0:0:15,16:426,529:0.00,51.20:0.00,1.74:0.00,49.47:0.00,1.00:0.00,0.81:0.00,1.00:60,60:1.9,40.1:0,0:0,0:89,117:62,34:27,19:-,NM_017886.2(ULK4) c.3227-122T>C:-,0.24:-,NOT_FOUND 3 41607388 rs6786299 T C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6955,C/0.3045;Gene=ULK4/NM_017886.2/1;CC=c.3226+128A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:166:C,T:14:14:0:0:5,9:170,279:15.43,0.00:15.43,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:41.6,14.7:0,0:0,0:46,46:102,102:2,7:NM_017886.2(ULK4) c.3226+128A>G,-:0.3,-:NOT_FOUND,- 3 41607622 . C . . NT END=41657159;NT GT ./. 3 41607701 rs1565957 C G 113 nt VT=SNV;PN=T;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.3223,G/0.6777;Gene=ULK4/NM_017886.2/1;CC=c.3121-80G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:3:0:0:29:996:113.43:9.49:103.94:1.00:1.00:1.00:60:35.0:0:0:120:31:22:NM_017886.2(ULK4) c.3121-80G>C,NM_017886.2(ULK4) c.3121-80G>C:0.7,0.7:NOT_FOUND,NOT_FOUND 3 41657209 . C . . NT END=41705097;NT GT ./. 3 41705191 . C . . NT END=41722998;NT GT ./. 3 41723144 . C . . NT END=41723240;NT GT ./. 3 41723296 . C . . NT END=41746548;NT GT ./. 3 41745326 rs575360736 GCACA G 12 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.001;Gene=ULK4/NM_017886.2/1;CC=c.2781+1219_2781+1222delTGTG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:GCACA,G:6:5:0:4:2,4:71,113:0.00,11.55:0.00,7.23:0.00,4.31:0.00,0.93:0.00,0.99:0.00,0.97:60,60:0.0,36.2:0,0:0,0:91,26:19,125:52,13:-,NM_017886.2(ULK4) c.2781+1219_2781+1222delTGTG:-,NOT_FOUND:-,NOT_FOUND 3 41746644 . C . . NT END=41746745;NT GT ./. 3 41746798 . C . . NT END=41756728;NT GT ./. 3 41748394 rs137865706 G T 13 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9507,T/0.04932;Gene=ULK4/NM_017886.2/1;CC=c.2635-1597C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:G,T:6:2:0:0:2,4:44,129:0.00,13.17:0.00,-0.93:0.00,14.10:0.00,0.93:0.00,0.91:0.00,0.99:60,60:43.5,40.2:0,0:0,0:122,51:12,96:18,32:-,NM_017886.2(ULK4) c.2635-1597C>A:-,0.05:-,NOT_FOUND 3 41756786 . C . . NT END=41756938;NT GT ./. 3 41756845 rs543119516 T TA 13 rn VT=INS;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=5;Gene=ULK4/NM_017886.2/1;CC=c.2578-61dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,T,TA,D:80:51:6:2:1,71,6,2:10,2255,194,66:-0.25,0.00,13.12,3.58:-0.19,0.00,9.01,1.77:-0.06,0.00,4.11,1.81:0.00,0.00,0.78,0.00:0.00,0.00,0.93,0.00:0.00,0.00,0.91,0.00:60,60,60,60:20.0,9.5,14.2,10.0:0,0,0,0:0,0,0,0:23,95,27,89:118,56,123,61:0,32,18,9:-,NM_017886.2(ULK4) c.2578-61_2578-60insT:-,NOT_FOUND:-,NOT_FOUND 3 41756965 rs61744388 C T 93 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.7344,T/0.2656;Gene=ULK4/NM_017886.2/1;CC=c.2551G>A;ProtCh=p.V851I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:88:61:0:0:56,32:1836,1025:0.00,92.70:0.00,40.96:0.00,51.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,64.2:0,0:0,0:65,94:81,56:32,26:-,NM_017886.2(ULK4) c.2551G>A (p.Val851Ile):-,0.25:-,0.266206 3 41756986 rs61744385 A T 92 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.7344,T/0.2656;PC=0.260;Gene=ULK4/NM_017886.2/1;CC=c.2530T>A;ProtCh=p.L844M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:87:57:0:0:56,31:1793,1023:0.00,92.49:0.00,31.61:0.00,60.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,67.2:0,0:0,0:77,100:70,50:28,33:-,NM_017886.2(ULK4) c.2530T>A (p.Leu844Met):-,0.25:-,0.265681 3 41757061 . C . . NT END=41759219;NT GT ./. 3 41757341 rs60458744 AT A 16 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=AT/0.6769,A/0.3231;NP=19;Gene=ULK4/NM_017886.2/1;CC=c.2456-282delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:AT,A:9:0:0:5:4,5:117,164:0.00,16.10:0.00,0.00:0.00,16.10:0.00,0.96:0.00,0.00:0.00,0.96:60,60:24.5,3.8:0,0:0,0:117,102:33,49:20,7:-,NM_017886.2(ULK4) c.2456-282delA:-,0.31:-,NOT_FOUND 3 41759191 rs17060938 T C 131 nt VT=SNV;PN=A;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.6815,C/0.3185;Gene=ULK4/NM_017886.2/1;CC=c.2455+29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:72:0:0:42,42:1367,1314:131.47,0.00:84.18,0.00:47.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,6.6:0,0:0,0:49,49:94,100:19,21:NM_017886.2(ULK4) c.2455+29A>G,-:0.3,-:0.320521,- 3 41759354 . C . . NT END=41795852;NT GT ./. 3 41759525 rs9852303 C T 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6815,T/0.3185;Gene=ULK4/NM_017886.2/1;CC=c.2322-172G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:0:0:0:9,8:292,241:0.00,22.80:0.00,0.00:0.00,22.80:0.00,0.99:0.00,0.00:0.00,0.99:60,60:2.4,35.8:0,0:0,0:86,116:65,34:43,24:-,NM_017886.2(ULK4) c.2322-172G>A:-,0.3:-,NOT_FOUND 3 41795841 rs9867627 A C 81 nt VT=SNV;PN=G;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=ULK4/NM_017886.2/1;CC=c.2321+12T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:44:37:0:0:18,26:603,822:0.00,81.48:0.00,64.93:0.00,16.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,40.0:0,0:0,0:64,38:87,113:25,22:-,NM_017886.2(ULK4) c.2321+12T>G:-,0.21:-,0.228855 3 41795981 . C . . NT END=41831152;NT GT ./. 3 41831203 rs17215589 C T 81 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=C/0.9185,T/0.08147;PC=0.719;Gene=ULK4/NM_017886.2/1;CC=c.2143G>A;ProtCh=p.A715T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:54:0:0:44,28:1390,889:0.00,81.38:0.00,40.80:0.00,40.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,40.6:0,0:0,0:90,75:56,75:27,35:-,NM_017886.2(ULK4) c.2143G>A (p.Ala715Thr):-,0.09:-,0.123369 3 41831336 . C . . NT END=41841623;NT GT ./. 3 41841716 rs4973986 A C 178 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.13,C/0.87;PC=1.000;Gene=ULK4/NM_017886.2/1;CC=c.1918T>G;ProtCh=p.S640A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:108:A,C:51:32:0:0:1,50:34,1565:0.00,178.05:0.00,82.77:0.00,95.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,37.2:0,0:0,0:68,89:58,60:0,34:NM_017886.2(ULK4) c.1918T>G (p.Ser640Ala),NM_017886.2(ULK4) c.1918T>G (p.Ser640Ala):0.86,0.86:0.87704,0.87704 3 41841786 . C . . NT END=41860914;NT GT ./. 3 41841811 rs149544106 T TATTA 25 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.9169,TATTA/0.08307;NP=732;Gene=ULK4/NM_017886.2/1;CC=c.1849-30_1849-27dupTAAT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TATTA:31:11:9:0:22,9:621,289:0.00,25.10:0.00,5.42:0.00,19.69:0.00,0.99:0.00,0.96:0.00,1.00:60,60:32.0,35.4:1,0:0,0:106,65:44,85:38,11:-,NM_017886.2(ULK4) c.1849-27_1849-26insTAAT:-,NOT_FOUND:-,0.124004 3 41841873 rs17215883 C T 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.9169,T/0.08307;Gene=ULK4/NM_017886.2/1;CC=c.1849-88G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:4:0:0:12,8:358,249:0.00,22.89:0.00,6.24:0.00,16.65:0.00,0.99:0.00,0.87:0.00,1.00:60,60:9.4,39.1:0,0:0,0:80,129:70,21:40,9:-,NM_017886.2(ULK4) c.1849-88G>A:-,0.09:-,NOT_FOUND 3 41860999 . C . . NT END=41877355;NT GT ./. 3 41861013 rs59543183 GA G 58 rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1002;PC=0.498;Gene=ULK4/NM_017886.2/1;CC=c.1765-16delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:43:23:0:19:24,19:725,617:0.00,57.97:0.00,21.74:0.00,36.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.1,5.0:0,0:0,0:84,91:64,52:34,17:-,NM_017886.2(ULK4) c.1765-16delT:-,NOT_FOUND:-,0.325973 3 41877414 rs3774372 T C 64 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.8273,C/0.1727;PC=1.000;Gene=ULK4/NM_017886.2/1;CC=c.1706A>G;ProtCh=p.K569R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:45:31:0:0:1,20,24:7,674,779:-0.14,63.76,0.00:-0.11,38.68,0.00:-0.03,25.08,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.0,42.4,12.8:0,0,0:0,0,0:93,82,86:58,65,62:0,19,35:NM_017886.2(ULK4) c.1706A>G (p.Lys569Arg),-:0.18,-:0.180873,- 3 41877464 . C . . NT END=41925365;NT GT ./. 3 41877473 rs58776901 C CAAA 10 idl,nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.7039,A/0.2961;DB;DBA=NA;PAF=NA;NP=3;Gene=ULK4/NM_017886.2/1;CC=c.1657-13_1657-11dupTTT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:73:C,CAAA,D:28:14:7:3:22,4,2:658,220,90:0.00,9.73,3.93:0.00,8.29,-0.21:0.00,1.44,4.14:0.00,0.63,0.00:0.00,0.77,0.00:0.00,0.89,0.00:60,60,60:23.6,92.5,30.0:0,3,1:0,0,0:122,96,54:28,55,95:25,9,16:-,NM_017886.2(ULK4) c.1657-11_1657-10insTTT:-,NOT_FOUND:-,NOT_FOUND 3 41877692 rs553656625 A AT 12 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;Gene=ULK4/NM_017886.2/1;CC=c.1657-230dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,AT,D:7:0:4:1:2,4,1:65,123,20:0.00,12.50,1.50:0.00,0.00,0.00:0.00,12.50,1.50:0.00,0.90,0.00:0.00,0.00,0.00:0.00,0.90,0.00:60,60,60:8.5,0.0,2.0:0,0,0:0,0,0:98,85,18:51,63,133:45,14,0:-,NM_017886.2(ULK4) c.1657-230_1657-229insA:-,NOT_FOUND:-,NOT_FOUND 3 41882357 rs146707962 T C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6849,C/0.3151;PC=0.013;Gene=ULK4/NM_017886.2/1;CC=c.1657-4894A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:111:C,T:10:9:0:0:4,6:111,199:10.08,0.00:8.83,0.00:1.25,0.00:0.99,0.00:0.98,0.00:0.87,0.00:60,60:99.2,19.8:0,0:0,0:25,9:109,112:15,9:NM_017886.2(ULK4) c.1657-4894A>G,-:0.29,-:NOT_FOUND,- 3 41882521 rs144872025 G A 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8271,A/0.1729;PC=0.034;Gene=ULK4/NM_017886.2/1;CC=c.1657-5058C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:16:0:0:11,9:319,250:31.16,0.00:23.95,0.00:7.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.3,49.3:0,0:0,0:80,52:71,99:14,43:NM_017886.2(ULK4) c.1657-5058C>T,-:0.18,-:NOT_FOUND,- 3 41882709 . G A 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;PC=0.004;Gene=ULK4/NM_017886.2/1;CC=c.1657-5246C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:12:10:0:0:3,9:95,234:8.01,0.00:6.76,0.00:1.26,0.00:0.59,0.00:0.91,0.00:0.80,0.00:60,60:182.7,47.4:0,0:0,0:115,19:13,120:10,11:NM_017886.2(ULK4) c.1657-5246C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 41882716 rs113341165 C A 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;PC=0.007;Gene=ULK4/NM_017886.2/1;CC=c.1657-5253G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,C:12:10:0:0:4,8:123,243:10.89,0.00:5.39,0.00:5.50,0.00:0.80,0.00:0.97,0.00:0.89,0.00:60,60:57.8,73.5:0,0:0,0:42,48:101,70:21,40:NM_017886.2(ULK4) c.1657-5253G>T,-:0.17,-:NOT_FOUND,- 3 41882905 rs114714860 G C 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6819,C/0.3181;PC=0.015;Gene=ULK4/NM_017886.2/1;CC=c.1657-5442C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:163:C,G:22:15:0:0:16,6:516,185:53.61,0.00:35.24,0.00:18.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.1,36.0:0,0:0,0:50,79:89,66:35,38:NM_017886.2(ULK4) c.1657-5442C>G,-:0.3,-:NOT_FOUND,- 3 41883019 rs113449797 A G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.6851,G/0.3149;PC=0.009;Gene=ULK4/NM_017886.2/1;CC=c.1657-5556T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,G:11:6:0:0:1,10:35,281:0.00,31.32:0.00,8.89:0.00,22.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,59.3:0,0:0,0:117,89:34,61:0,40:-,NM_017886.2(ULK4) c.1657-5556T>C:-,0.29:-,NOT_FOUND 3 41883101 rs113471865 C A 24 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8275,A/0.1725;PC=0.056;Gene=ULK4/NM_017886.2/1;CC=c.1657-5638G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,C:11:1:0:0:8,3:234,101:24.41,0.00:-0.56,0.00:24.97,0.00:1.00,0.00:0.82,0.00:1.00,0.00:60,60:60.8,62.0:0,0:0,0:99,67:46,70:25,3:NM_017886.2(ULK4) c.1657-5638G>T,-:0.18,-:NOT_FOUND,- 3 41925260 rs201431695 CAGAGAAAAAACAAGTGA C 31 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CAGAGAAAAAACAAGTGA/0.3205,C/0.6795;DB;DBA=NA;PAF=CAGAGAAAAAACAAGTGA/0.3205,C/0.6795;NP=2054;Gene=ULK4/NM_017886.2/1;CC=c.1656+89_1656+105delTCACTTGTTTTTTCTCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAGAGAAAAAACAAGTGA,C:17:17:0:10:7,10:236,317:0.00,31.47:0.00,31.47:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:3.4,43.5:0,0:0,0:40,49:110,100:28,23:-,NM_017886.2(ULK4) c.1656+89_1656+105delTCACTTGTTTTTTCTCT:-,NOT_FOUND:-,NOT_FOUND 3 41925301 rs1716685 T C 53 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.3115,C/0.6885;Gene=ULK4/NM_017886.2/1;CC=c.1656+65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:25:0:0:16,10:531,327:53.23,0.00:52.16,0.00:1.08,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:55.8,20.5:0,0:0,0:49,56:97,94:21,40:NM_017886.2(ULK4) c.1656+65A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 41925398 rs1052501 C T 96 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.3115,T/0.6885;PC=0.002;Gene=ULK4/NM_017886.2/1;CC=c.1624G>A;ProtCh=p.A542T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:66:51:0:0:34,32:1112,1006:0.00,96.02:0.00,50.39:0.00,45.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.7,71.1:0,0:0,0:49,49:87,87:23,31:-,NM_017886.2(ULK4) c.1624G>A (p.Ala542Thr):-,0.71:-,0.683103 3 41925423 rs1716687 T C 220 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.08067,C/0.9193;PC=1.000;Gene=ULK4/NM_017886.2/1;CC=c.1599A>G;ProtCh=p.V533=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A,C:60:43:0:0:1,59:7,1925:0.07,219.98:0.00,114.68:0.07,105.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.0,55.5:0,0:0,0:92,62:58,77:0,28:NM_017886.2(ULK4) c.1599A>G (p.(=)),NM_017886.2(ULK4) c.1599A>G (p.(=)):0.93,0.93:0.923839,0.923839 3 41925445 . C . . NT END=41937009;NT GT ./. 3 41936827 rs73087378 G A 21 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.9159,A/0.08407;Gene=ULK4/NM_017886.2/1;CC=c.1577+183C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:89:A,G:9:9:0:0:6,3:202,93:20.57,0.00:20.57,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:45.5,0.0:0,0:0,0:34,73:116,75:13,28:NM_017886.2(ULK4) c.1577+183C>T,-:0.09,-:NOT_FOUND,- 3 41937000 rs1717003 C T 62 nt VT=SNV;PN=A;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.3119,T/0.6881;PC=0.957;Gene=ULK4/NM_017886.2/1;CC=c.1577+10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:28:0:0:16,19:479,634:0.00,62.01:0.00,34.30:0.00,27.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,34.4:0,0:0,0:42,52:107,93:20,25:-,NM_017886.2(ULK4) c.1577+10G>A:-,0.69:-,0.673054 3 41937057 . C . . NT END=41938313;NT GT ./. 3 41938496 . C . . NT END=41939923;NT GT ./. 3 41938500 rs1717005 G C 261 nt VT=SNV;PN=C;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.08107,C/0.9189;Gene=ULK4/NM_017886.2/1;CC=c.1349-5C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:73:17:0:0:72,1:2275,9:261.29,0.11:43.20,0.00:218.09,0.11:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.4,53.0:0,0:0,0:99,31:52,116:31,0:NM_017886.2(ULK4) c.1349-5C>G,NM_017886.2(ULK4) c.1349-5C>G:0.93,0.93:0.924107,0.924107 3 41939781 rs73069209 G A 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9137,A/0.08626;Gene=ULK4/NM_017886.2/1;CC=c.1348+143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,G:13:13:0:0:8,5:254,158:25.45,0.00:25.66,0.00:-0.21,0.00:1.00,0.00:1.00,0.00:0.74,0.00:60,60:40.0,0.0:0,0:0,0:41,42:109,106:20,32:NM_017886.2(ULK4) c.1348+143C>T,-:0.09,-:NOT_FOUND,- 3 41939985 . C . . NT END=41942216;NT GT ./. 3 41939993 rs1625226 T A 106 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.3019,A/0.6981;Gene=ULK4/NM_017886.2/1;CC=c.1288-9A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A,T:32:16:0:0:30,2:953,65:106.36,0.00:35.98,0.00:70.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,0.0:0,2:0,0:106,100:42,49:23,20:NM_017886.2(ULK4) c.1288-9A>T,NM_017886.2(ULK4) c.1288-9A>T:0.8,0.8:NOT_FOUND,NOT_FOUND 3 41942199 rs1717007 T C 67 nt VT=SNV;PN=T;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.3181,C/0.6819;PC=0.001;Gene=ULK4/NM_017886.2/1;CC=c.1287+18A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:40:0:0:22,28:715,892:67.09,0.00:44.82,0.00:22.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,6.0:0,0:0,0:35,38:111,112:19,20:NM_017886.2(ULK4) c.1287+18A>G,-:0.7,-:0.678278,- 3 41942322 . C . . NT END=41949336;NT GT ./. 3 41949301 rs59146151 T C 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.9159,C/0.08407;Gene=ULK4/NM_017886.2/1;CC=c.1182+36A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:27:0:0:18,11:576,356:57.79,0.00:44.27,0.00:13.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,21.6:0,0:0,0:38,78:112,72:29,24:NM_017886.2(ULK4) c.1182+36A>G,-:0.09,-:0.127285,- 3 41949434 . C . . NT END=41952808;NT GT ./. 3 41949569 rs60659106 G C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9159,C/0.08407;Gene=ULK4/NM_017886.2/1;CC=c.1086-136C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:145:C,G:12:0:0:0:5,7:144,235:13.22,0.00:0.00,0.00:13.22,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:52.0,6.1:0,0:0,0:109,133:42,17:24,12:NM_017886.2(ULK4) c.1086-136C>G,-:0.09,-:NOT_FOUND,- 3 41952781 rs1716991 C T 114 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.0595,T/0.9405;Gene=ULK4/NM_017886.2/1;CC=c.1085+28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:27:0:0:31:995:114.28:83.41:30.87:1.00:1.00:1.00:60:47.4:0:0:36:115:28:NM_017886.2(ULK4) c.1085+28G>A,NM_017886.2(ULK4) c.1085+28G>A:0.95,0.95:0.945706,0.945706 3 41952852 rs35263917 T C 72 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.9159,C/0.08407;PC=1.000;Gene=ULK4/NM_017886.2/1;CC=c.1042A>G;ProtCh=p.S348G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:33:0:0:25,20:734,665:71.85,0.00:27.45,0.00:44.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.9,19.0:0,0:0,0:76,74:72,76:31,22:NM_017886.2(ULK4) c.1042A>G (p.Ser348Gly),-:0.09,-:0.127577,- 3 41952879 . C . . NT END=41953032;NT GT ./. 3 41953152 . C . . NT END=41954298;NT GT ./. 3 41953332 rs1716681 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.0615,T/0.9385;Gene=ULK4/NM_017886.2/1;CC=c.897-181G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:138:15.71:0.00:15.71:1.00:0.00:1.00:60:37.2:0:0:111:39:14:NM_017886.2(ULK4) c.897-181G>A,NM_017886.2(ULK4) c.897-181G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 3 41954392 . C . . NT END=41957468;NT GT ./. 3 41954587 rs9822598 G A 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3153,A/0.6847;PC=0.011;Gene=ULK4/NM_017886.2/1;CC=c.804-196C>T;VC=Intron;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:83:A,G:8:1:0:0:5,3:166,85:16.70,0.00:-0.42,0.00:17.11,0.00:0.97,0.00:0.75,0.00:1.00,0.00:60,60:69.6,3.0:0,0:0,0:72,133:79,18:36,13:NM_017886.2(ULK4) c.804-196C>T,-:0.66,-:NOT_FOUND,- 3 41954588 rs9822288 C T 16 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.3153,T/0.6847;Gene=ULK4/NM_017886.2/1;CC=c.804-197G>A;VC=Intron;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:C,T:8:1:0:0:3,5:84,164:0.00,16.50:0.00,-0.41:0.00,16.91:0.00,0.97:0.00,0.75:0.00,1.00:60,60:3.0,69.6:0,0:0,0:134,73:17,78:13,36:-,NM_017886.2(ULK4) c.804-197G>A:-,0.66:-,NOT_FOUND 3 41957466 rs1716698 T G 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.3187,A/.,G/0.6813;PC=0.790;Gene=ULK4/NM_017886.2/1;CC=c.803+3A>C;VC=Intergenic;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:32:23:0:0:15,17:491,550:46.66,0.00:24.96,0.00:21.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,9.0:0,0:0,0:48,85:97,66:15,37:NM_017886.2(ULK4) c.803+3A>C,-:0.7,-:0.675567,- 3 41957545 . C . . NT END=41959948;NT GT ./. 3 41960006 rs1716975 T C 75 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.3201,C/0.6799;PC=0.190;Gene=ULK4/NM_017886.2/1;CC=c.670A>G;ProtCh=p.I224V;VC=Missense;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:32:0:0:23,27:789,854:74.90,0.00:38.95,0.00:35.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,3.4:0,0:0,0:76,87:68,52:23,20:NM_017886.2(ULK4) c.670A>G (p.Ile224Val),-:0.69,-:0.674728,- 3 41960033 . C . . NT END=41961208;NT GT ./. 3 41960087 rs567405170 CTT C 10 rn VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=CTT/0.1749,C/0.8251;DB;DBA=NA;PAF=CTT/0.1749,C/0.8251;PC=0.998;Gene=ULK4/NM_017886.2/1;CC=c.644-57_644-56delAA;VC=Intron;DM=ULK4/Pkinase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:CTT,T,C:17:7:0:5:12,1,4:336,29,147:0.00,1.83,9.89:0.00,-0.14,-0.60:0.00,1.97,10.49:0.00,0.00,0.73:0.00,0.00,0.79:0.00,0.00,0.94:60,60,60:31.2,59.0,25.0:0,1,1:0,0,0:126,46,99:19,101,48:10,0,13:-,NM_017886.2(ULK4) c.644-57_644-56delAA:-,NOT_FOUND:-,NOT_FOUND 3 41961311 . C . . NT END=41973335;NT GT ./. 3 41973062 rs1716992 T A,C 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.08886,C/0.9111;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C:5:5:0:0:1,4:11,92:0.89,10.65:0.89,10.65:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:99.0,39.8:0,0:0,0:76,74:71,76:0,11:NM_017886.2(ULK4) c.541+274A>T,NM_017886.2(ULK4) c.541+274A>G:NOT_FOUND,0.93:NOT_FOUND,NOT_FOUND 3 41973499 . C . . NT END=41977292;NT GT ./. 3 41977214 rs3934103 C T 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.2612,T/0.7388;PC=0.715;Gene=ULK4/NM_017886.2/1;CC=c.378+79G>A;VC=Intron;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:35:0:0:24,15:714,490:0.00,44.88:0.00,37.21:0.00,7.67:0.00,1.00:0.00,1.00:0.00,0.98:60,60:9.8,41.1:0,0:0,0:48,41:96,109:18,13:-,NM_017886.2(ULK4) c.378+79G>A:-,0.75:-,NOT_FOUND 3 41977433 . C . . NT END=41979589;NT GT ./. 3 41977464 rs73071203 A C 126 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.9161,C/0.08387;PC=0.001;Gene=ULK4/NM_017886.2/1;CC=c.239-32T>G;VC=Intron;DM=ULK4/Pkinase;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:77:39:0:0:36,41:1148,1296:0.00,126.01:0.00,28.78:0.00,97.23:0.00,1.00:0.00,1.00:0.00,1.00:70,60:7.1,40.4:0,0:0,0:88,102:59,43:30,32:-,NM_017886.2(ULK4) c.239-32T>G:-,0.09:-,0.124419 3 41977488 rs58069203 CCT C 89 nt VT=DEL;SST=Single;DP=66;DB;DBA=NA;PAF=CCT/0.2706,C/0.7294;NP=3288;Gene=ULK4/NM_017886.2/1;CC=c.239-58_239-57delAG;VC=Intron;DM=ULK4/Pkinase;DM=ULK4/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCT,C:66:28:0:30:36,30:1133,946:0.00,89.16:0.00,36.38:0.00,52.78:0.00,1.00:0.00,1.00:0.00,1.00:60,70:35.6,2.8:0,0:0,0:97,92:41,46:34,23:-,NM_017886.2(ULK4) c.239-58_239-57delAG:-,0.74:-,NOT_FOUND 3 41979690 . C . . NT END=41996113;NT GT ./. 3 41995851 rs35973148 G GA 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.08786,GAA/0.6975;DB;DBA=NA;PAF=G/0.08786,GA/0.2147,GAA/0.6975;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.08786,GA/0.2147,GAA/0.6975,GAAA/.;NP=14;NP=64;PC=0.100;Gene=ULK4/NM_017886.2/1;CC=c.138+262_138+263insT;VC=Intron;DM=ULK4/Pkinase;DM=ULK4/Pkinase;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GA:4:5:5:0:4:150:14.22:14.22:0.00:0.96:0.96:0.00:60:28.2:1:0:27:124:19:NM_017886.2(ULK4) c.138+262_138+263insT,NM_017886.2(ULK4) c.138+262_138+263insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 41996136 rs2272007 T C 111 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.3179,C/0.6821;PC=1.000;Gene=ULK4/NM_017886.2/1;CC=c.116A>G;ProtCh=p.K39R;VC=Missense;DM=ULK4/Pkinase;DM=ULK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:81:57:0:0:35,46:1180,1492:110.62,0.00:63.27,0.00:47.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,8.3:0,0:0,0:71,54:78,73:26,42:NM_017886.2(ULK4) c.116A>G (p.Lys39Arg),-:0.7,-:0.678387,- 3 41996252 . C . . NT END=42132961;NT GT ./. 3 41996275 rs7651623 A G 235 nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.08446,G/0.9155,T/.;Gene=ULK4/NM_017886.2/1;CC=c.-24T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:G:63:31:0:0:63:2050:234.87:77.67:157.20:1.00:1.00:1.00:60:54.1:0:0:85:55:37:NM_017886.2(ULK4) c.-24T>C,NM_017886.2(ULK4) c.-24T>C:0.93,0.93:0.922916,0.922916 3 41996304 rs17284472 G A 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.9034,A/0.09665;Gene=ULK4/NM_017886.2/1;CC=c.-48-5C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:48:19:0:0:26,22:811,750:79.10,0.00:20.24,0.00:58.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:71.2,36.1:0,0:0,0:101,93:44,52:26,18:NM_017886.2(ULK4) c.-48-5C>T,-:0.1,-:NOT_FOUND,- 3 41996511 rs7651830 A G 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.08427,G/0.9157;Gene=ULK4/NM_017886.2/1;CC=c.-48-212T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:1:0:0:11:314:36.56:3.68:32.89:1.00:1.00:1.00:60:43.5:0:0:96:54:41:NM_017886.2(ULK4) c.-48-212T>C,NM_017886.2(ULK4) c.-48-212T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 3 42019009 . C CA 7 end,rn VT=INS;SST=Single;DP=16;NP=16;PC=0.122;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C,CA,D:15:15:3:2:1,10,3,1:11,313,82,55:0.21,0.00,6.55,1.30:-0.28,0.00,6.55,1.30:0.49,0.00,0.00,0.00:0.00,0.00,0.54,0.00:0.00,0.00,0.91,0.00:0.00,0.00,0.46,0.00:60,60,60,60:25.0,9.8,69.0,84.0:0,0,0,1:0,0,0,0:82,49,5,33:68,102,136,117:0,35,3,26:-,chr3 g.42019009_42019010insA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 42019473 rs6599195 C G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.04193,G/0.9581;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:41.0:0:0:114:36:22:chr3 g.42019472C>G (intergenic),chr3 g.42019472C>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 3 42133054 . T . . NT END=42166911;NT GT ./. 3 42167108 . T . . NT END=42190726;NT GT ./. 3 42191092 . G . . NT END=42201660;NT GT ./. 3 42201609 rs9757367 A G 98 nt VT=SNV;PN=C;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=NA;Gene=TRAK1/NM_001265608.1/0;CC=c.287-16697A>G;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.287-16697A>G;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.64+10518A>G;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.64+10518A>G;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:64:45:0:0:27,3,34:696,29,997:0.00,0.44,97.67:0.00,0.36,56.13:0.00,0.08,41.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.0,19.3,51.5:0,0,0:0,0,0:25,75,19:109,76,129:17,40,17:-,NM_001042646.2(TRAK1) c.287-16697A>G:-,0.84:-,NOT_FOUND 3 42201966 . G . . NT END=42218305;NT GT ./. 3 42202061 rs71616033 G T 50 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.2093,T/0.7907;DB;DBA=NA;PAF=NA;Gene=TRAK1/NM_001265608.1/0;CC=c.287-16245G>T;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.287-16245G>T;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.64+10970G>T;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.64+10970G>T;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.112+96G>T;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,I:34:1:2:3:16,16,2:437,515,64:0.00,49.51,4.48:0.00,-0.14,-0.01:0.00,49.65,4.49:0.00,1.00,0.00:0.00,0.65,0.00:0.00,1.00,0.00:60,60,60:28.9,54.9,6.5:0,0,0:0,0,0:119,121,91:31,30,60:20,25,11:-,NM_001042646.2(TRAK1) c.287-16245G>T:-,NOT_FOUND:-,NOT_FOUND 3 42218095 rs1010987 G C 14 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3417,C/0.6583;Gene=TRAK1/NM_001265608.1/0;CC=c.287-211G>C;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.287-211G>C;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.65-211G>C;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.65-211G>C;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.113-211G>C;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:C,G:8:8:0:0:5,3:143,96:14.37,0.00:14.37,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:28.6,4.0:0,0:0,0:33,43:118,108:23,2:NM_001042646.2(TRAK1) c.287-211G>C,-:0.7,-:NOT_FOUND,- 3 42218384 . T . . NT END=42226176;NT GT ./. 3 42226151 rs4234445 T C 77 nt VT=SNV;PN=C;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.2572,C/0.7428;Gene=TRAK1/NM_001265608.1/0;CC=c.364-26T>C;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.364-26T>C;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.142-26T>C;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.142-26T>C;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.190-26T>C;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:54:45:0:0:26,1,27:808,5,875:77.25,-0.18,0.00:49.19,-0.11,0.00:28.05,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:32.9,69.0,5.6:0,0,0:0,0,0:36,43,43:110,108,108:23,0,28:NM_001042646.2(TRAK1) c.364-26T>C,-:0.78,-:0.67415,- 3 42226295 . T . . NT END=42229536;NT GT ./. 3 42226438 rs1375536 C G 26 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.3171,G/0.6829;PC=0.001;Gene=TRAK1/NM_001265608.1/0;CC=c.480+145C>G;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.480+145C>G;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.258+145C>G;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.258+145C>G;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.306+145C>G;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:0:0:0:9,9:292,268:0.00,25.66:0.00,0.00:0.00,25.66:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.8,38.4:0,0:0,0:104,95:47,56:7,7:-,NM_001042646.2(TRAK1) c.480+145C>G:-,0.72:-,NOT_FOUND 3 42229296 rs1463194 G A 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2636,A/0.7364;Gene=TRAK1/NM_001265608.1/0;CC=c.481-241G>A;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.481-241G>A;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.259-241G>A;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.259-241G>A;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.307-241G>A;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:123:A,G:8:8:0:0:4,4:129,119:12.41,0.00:12.41,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:32.2,5.0:0,0:0,0:46,79:105,71:25,22:NM_001042646.2(TRAK1) c.481-241G>A,-:0.78,-:NOT_FOUND,- 3 42229639 . T . . NT END=42230507;NT GT ./. 3 42230395 rs3816396 C T 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7969,T/0.2031;Gene=TRAK1/NM_001265608.1/0;CC=c.582-113C>T;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.582-113C>T;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.360-113C>T;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.360-113C>T;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.408-113C>T;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,T:11:11:0:0:3,8:82,232:0.00,24.20:0.00,24.20:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:12.3,29.6:0,0:0,0:43,64:108,86:18,14:-,NM_001042646.2(TRAK1) c.582-113C>T:-,0.25:-,NOT_FOUND 3 42230618 . T . . NT END=42233049;NT GT ./. 3 42230743 rs2290135 G A 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.7636,A/0.2364;Gene=TRAK1/NM_001265608.1/0;CC=c.690+127G>A;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.690+127G>A;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.468+127G>A;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.468+127G>A;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.516+127G>A;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:A,G:13:0:0:0:5,8:154,263:14.02,0.00:0.00,0.00:14.02,0.00:0.91,0.00:0.00,0.00:0.91,0.00:60,60:35.8,35.0:0,0:0,0:102,97:49,54:11,31:NM_001042646.2(TRAK1) c.690+127G>A,-:0.28,-:NOT_FOUND,- 3 42230746 rs62257336 C T 24 nt VT=SNV;PN=T;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9431,T/0.05691;Gene=TRAK1/NM_001265608.1/0;CC=c.690+130C>T;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.690+130C>T;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.468+130C>T;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.468+130C>T;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.516+130C>T;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:153:C,T:13:0:0:0:5,8:155,236:0.00,23.64:0.00,0.00:0.00,23.64:0.00,1.00:0.00,0.00:0.00,1.00:60,60:35.8,35.0:0,0:0,0:105,100:46,51:11,31:-,NM_001042646.2(TRAK1) c.690+130C>T:-,0.03:-,NOT_FOUND 3 42232837 rs7372004 G A 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1637,A/0.8363;Gene=TRAK1/NM_001265608.1/0;CC=c.691-213G>A;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.691-213G>A;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.469-213G>A;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.469-213G>A;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.517-213G>A;VC=Intron;DM=TRAK1/HAP1_N;DM=TRAK1/HAP1_N;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,G:16:16:0:0:4,12:105,372:8.50,0.00:8.50,0.00:0.00,0.00:0.75,0.00:0.75,0.00:0.00,0.00:60,60:45.0,3.4:0,0:0,0:42,37:108,114:8,14:NM_001042646.2(TRAK1) c.691-213G>A,-:0.86,-:NOT_FOUND,- 3 42233130 . T . . NT END=42234566;NT GT ./. 3 42234699 . T . . NT END=42235315;NT GT ./. 3 42234740 rs2290137 G A 113 nt VT=SNV;PN=T;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.7782,A/0.2218;Gene=TRAK1/NM_001265608.1/0;CC=c.900+43G>A;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.900+43G>A;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.678+43G>A;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.678+43G>A;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.726+43G>A;VC=Intron;DM=TRAK1/HAP1_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:40:0:0:40,54:1221,1865:113.29,0.00:28.87,0.00:84.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.6,3.5:0,0:0,0:116,97:35,51:25,27:NM_001042646.2(TRAK1) c.900+43G>A,-:0.27,-:0.203829,- 3 42235392 . T . . NT END=42236295;NT GT ./. 3 42236415 rs9851455 A G 113 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.2117,G/0.7883;Gene=TRAK1/NM_001265608.1/0;CC=c.1095A>G;ProtCh=p.S365=;VC=Silent;Gene=TRAK1/NM_001042646.2/1;CC=c.1095A>G;ProtCh=p.S365=;VC=Silent;Gene=TRAK1/NM_001265610.1/0;CC=c.873A>G;ProtCh=p.S291=;VC=Silent;Gene=TRAK1/NM_001265609.1/0;CC=c.873A>G;ProtCh=p.S291=;VC=Silent;Gene=TRAK1/NM_014965.4/0;CC=c.921A>G;ProtCh=p.S307=;VC=Silent;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:98:52:0:0:60,38:1800,1231:0.00,112.75:0.00,40.31:0.00,72.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,40.7:0,0:0,0:94,77:53,67:27,20:-,NM_001042646.2(TRAK1) c.1095A>G (p.(=)):-,0.83:-,0.730201 3 42236435 . T . . NT END=42240668;NT GT ./. 3 42240747 . T . . NT END=42242309;NT GT ./. 3 42242548 . T . . NT END=42243927;NT GT ./. 3 42242687 rs9846541 G A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.7734,A/0.2266;Gene=TRAK1/NM_001265608.1/0;CC=c.1427+141G>A;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1427+141G>A;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.1205+141G>A;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.1205+141G>A;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1253+141G>A;VC=Intron;DM=TRAK1/Milton;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:0:0:0:11,14:336,468:31.40,0.00:0.00,0.00:31.40,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.3,27.4:0,0:0,0:116,67:34,82:22,24:NM_001042646.2(TRAK1) c.1427+141G>A,-:0.27,-:NOT_FOUND,- 3 42242776 rs7609884 T C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.2117,C/0.7883;PC=0.008;Gene=TRAK1/NM_001265608.1/0;CC=c.1427+230T>C;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1427+230T>C;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.1205+230T>C;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.1205+230T>C;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1253+230T>C;VC=Intron;DM=TRAK1/Milton;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:11:0:0:0:4,7:129,207:11.68,0.00:0.00,0.00:11.68,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:46.2,8.6:0,0:0,0:71,115:78,35:16,26:NM_001042646.2(TRAK1) c.1427+230T>C,-:0.83,-:NOT_FOUND,- 3 42243375 . GACACACACACACACAC C,G 9 nt VT=DEL;SST=Single;DP=6;NP=1;PC=0.002;DM=TRAK1/Milton;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:39:C,GACACACACACACACAC,G:6:6:0:3:2,1,3:70,34,92:6.82,0.00,9.43:5.02,0.00,9.43:1.80,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.67:60,60,60:131.0,34.0,12.7:0,0,0:0,0,0:52,86,56:99,42,95:11,0,20:NM_001042646.2(TRAK1) c.1428-553_1428-538delGACACACACACACACA,NM_001042646.2(TRAK1) c.1428-552_1428-537delACACACACACACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 42244321 rs9311309 G A 256 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=G/0.256,A/0.744;PC=0.238;Gene=TRAK1/NM_001265608.1/0;CC=c.1744+77G>A;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1744+77G>A;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.1599G>A;ProtCh=p.A533=;VC=Silent;Gene=TRAK1/NM_001265609.1/0;CC=c.1522+77G>A;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1570+77G>A;VC=Intron;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:157:90:0:0:80,77:2647,2371:255.60,0.00:105.39,0.00:150.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,9.7:0,0:0,0:77,73:66,62:40,34:NM_001042646.2(TRAK1) c.1744+77G>A,-:0.79,-:NOT_FOUND,- 3 42244622 rs9311310 A G 196 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=162;DB;DBA=NA;PAF=A/0.2113,C/.,G/0.7887;Gene=TRAK1/NM_001265608.1/0;CC=c.1744+378A>G;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1744+378A>G;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.*229A>G;VC=3UTR;Gene=TRAK1/NM_001265609.1/0;CC=c.1522+378A>G;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1570+378A>G;VC=Intron;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:162:107:0:0:95,1,65,1:3029,10,2118,15:0.00,-0.19,195.85,-0.06:0.00,-0.14,102.94,-0.14:0.00,-0.05,92.91,0.08:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:6.9,161.0,43.2,51.0:0,0,0,0:0,0,0,0:73,71,48,140:76,41,91,11:31,0,26,0:-,NM_001042646.2(TRAK1) c.1744+378A>G:-,0.83:-,NOT_FOUND 3 42244693 rs79408169 A AT 185 rn VT=INS;SST=Single;DP=166;DB;DBA=NA;PAF=A/0.2087,AT/0.7913;DB;DBA=NA;PAF=NA;NP=4;Gene=TRAK1/NM_001265608.1/0;CC=c.1744+458dupT;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1744+458dupT;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.*309dupT;VC=3UTR;Gene=TRAK1/NM_001265609.1/0;CC=c.1522+458dupT;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1570+458dupT;VC=Intron;DM=TRAK1/Milton;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT,D:166:104:65:1:99,1,65,1:2896,12,2017,32:0.00,-0.16,184.99,1.21:0.00,-0.12,102.81,-0.12:0.00,-0.04,82.18,1.33:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:15.4,12.0,29.7,0.0:2,0,0,0:0,0,0,0:83,18,85,117:60,133,65,34:42,0,32,0:-,NM_001042646.2(TRAK1) c.1744+449_1744+450insT:-,NOT_FOUND:-,NOT_FOUND 3 42244956 rs9829097 C T 189 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=C/0.2632,T/0.7368;Gene=TRAK1/NM_001265608.1/0;CC=c.1744+712C>T;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1744+712C>T;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.*563C>T;VC=3UTR;Gene=TRAK1/NM_001265609.1/0;CC=c.1522+712C>T;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1570+712C>T;VC=Intron;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:123:74:0:0:61,62:1891,1961:0.00,188.61:0.00,98.35:0.00,90.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.4,50.3:0,0:0,0:65,91:84,49:45,33:-,NM_001042646.2(TRAK1) c.1744+712C>T:-,0.78:-,NOT_FOUND 3 42244986 rs34602604 CT C 111 idl,rn VT=DEL;SST=Single;DP=120;DB;DBA=NA;PAF=NA;Gene=TRAK1/NM_001265608.1/0;CC=c.1744+763delT;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1744+763delT;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.*614delT;VC=3UTR;Gene=TRAK1/NM_001265609.1/0;CC=c.1522+763delT;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1570+763delT;VC=Intron;DM=TRAK1/Milton;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:84:68:2:76:45,1,38:1372,66,2207:0.00,1.63,110.71:0.00,2.52,56.41:0.00,-0.89,54.30:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.3,69.0,93.0:2,1,35:0,0,0:130,79,49:17,69,96:18,8,26:-,NM_001042646.2(TRAK1) c.1744+743delT:-,NOT_FOUND:-,NOT_FOUND 3 42245232 . c . . NT END=42245414;NT GT ./. 3 42245257 rs59419342 AC A 46 rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=AC/0.2632,A/0.7368;DB;DBA=NA;PAF=AC/0.2632,A/0.7368;NP=667;Gene=TRAK1/NM_001265608.1/0;CC=c.1744+1019delC;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1744+1019delC;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.*870delC;VC=3UTR;Gene=TRAK1/NM_001265609.1/0;CC=c.1522+1019delC;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1570+1019delC;VC=Intron;DM=TRAK1/Milton;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AC,C,G,A:45:12:0:19:25,2,1,17:696,24,22,502:0.00,0.44,0.82,45.99:0.00,-0.13,-0.06,7.92:0.00,0.57,0.88,38.07:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:60,60,60,60:14.1,94.0,29.0,2.1:0,0,0,0:0,0,0,0:102,59,141,104:49,91,10,46:32,47,0,27:-,NM_001042646.2(TRAK1) c.1744+1014delC:-,0.78:-,NOT_FOUND 3 42245515 rs9853735 T C 90 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.263,C/0.737;Gene=TRAK1/NM_001265608.1/0;CC=c.1744+1271T>C;VC=Intron;Gene=TRAK1/NM_001042646.2/1;CC=c.1744+1271T>C;VC=Intron;Gene=TRAK1/NM_001265610.1/0;CC=c.*1122T>C;VC=3UTR;Gene=TRAK1/NM_001265609.1/0;CC=c.1522+1271T>C;VC=Intron;Gene=TRAK1/NM_014965.4/0;CC=c.1570+1271T>C;VC=Intron;DM=TRAK1/Milton GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:45:0:0:29,32:947,1013:90.18,0.00:46.78,0.00:43.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.7,7.5:0,0:0,0:59,90:92,54:41,23:NM_001042646.2(TRAK1) c.1744+1271T>C,-:0.78,-:NOT_FOUND,- 3 42245682 . C . . NT END=42251258;NT GT ./. 3 42251577 rs10634555 C CGGA 202 rn VT=INS;SST=Single;DP=288;DB;DBA=NA;PAF=NA;NP=1;NP=36;NP=425;PC=0.016;Gene=TRAK1/NM_001265608.1/0;CC=c.2095_2096insAGG;ProtCh=p.E698_G699insE;VC=InFrameIns;Gene=TRAK1/NM_001042646.2/1;CC=c.1963+132_1963+133insAGG;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.1873_1874insAGG;ProtCh=p.E624_G625insE;VC=InFrameIns;Gene=TRAK1/NM_014965.4/0;CC=c.1921_1922insAGG;ProtCh=p.E640_G641insE;VC=InFrameIns;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T,CGGA,D:287:197:75:10:1,200,2,75,9:11,6191,21,2362,311:-0.22,0.00,-0.42,202.04,15.92:-0.12,0.00,-0.23,119.26,11.76:-0.10,0.00,-0.20,82.78,4.16:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:184.0,12.9,58.0,12.8,16.2:0,0,0,0,1:0,0,0,0,0:63,99,54,63,51:80,40,81,87,85:0,28,36,18,20:-,NM_001042646.2(TRAK1) c.1963+100_1963+101insGGA:-,NOT_FOUND:-,NOT_FOUND 3 42251895 rs10717713 TA T 84 idl,rn VT=DEL;SST=Single;DP=142;DB;DBA=NA;PAF=TA/0.6689,T/0.3311;NP=16;PC=1.000;Gene=TRAK1/NM_001265608.1/0;CC=c.*168delA;VC=3UTR;Gene=TRAK1/NM_001042646.2/1;CC=c.1963+440delA;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.*168delA;VC=3UTR;Gene=TRAK1/NM_014965.4/0;CC=c.*168delA;VC=3UTR;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,TA,I,T:119:93:14:55:3,2,1,74,8,31:53,34,6,2190,407,1435:1.83,0.64,-0.20,0.00,16.28,84.14:-0.42,-0.07,-0.12,0.00,8.81,54.00:2.25,0.71,-0.08,0.00,7.48,30.14:0.00,0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00,1.00:60,60,60,60,60,60:104.0,49.5,17.0,27.0,106.0,39.8:2,1,0,0,6,17:0,0,0,0,0,0:105,82,127,118,60,62:46,47,22,23,76,80:19,30,0,27,19,32:-,NM_001042646.2(TRAK1) c.1963+419delA:-,NOT_FOUND:-,NOT_FOUND 3 42252141 rs3196165 A G 198 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=A/0.1625,G/0.8375;Gene=TRAK1/NM_001265608.1/0;CC=c.*392A>G;VC=3UTR;Gene=TRAK1/NM_001042646.2/1;CC=c.1963+664A>G;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.*392A>G;VC=3UTR;Gene=TRAK1/NM_014965.4/0;CC=c.*392A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:133:83:0:0:66,67:2134,2061:0.00,197.84:0.00,103.41:0.00,94.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,38.3:0,0:0,0:88,72:62,76:29,32:-,NM_001042646.2(TRAK1) c.1963+664A>G:-,0.86:-,NOT_FOUND 3 42252274 rs9311311 G A 204 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=G/0.6773,A/0.3227;Gene=TRAK1/NM_001265608.1/0;CC=c.*525G>A;VC=3UTR;Gene=TRAK1/NM_001042646.2/1;CC=c.1963+797G>A;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.*525G>A;VC=3UTR;Gene=TRAK1/NM_014965.4/0;CC=c.*525G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:112:59:0:0:67,45:2046,1369:203.64,0.00:69.85,0.00:133.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,7.0:0,0:0,0:81,66:69,82:36,39:NM_001042646.2(TRAK1) c.1963+797G>A,-:0.36,-:NOT_FOUND,- 3 42252361 rs76352058 G GT 146 PASS VT=INS;SST=Single;DP=114;DB;DBA=NA;PAF=G/0.8187,GT/0.1813;DB;DBA=NA;PAF=NA;NP=5;Gene=TRAK1/NM_001265608.1/0;CC=c.*613dupT;VC=3UTR;Gene=TRAK1/NM_001042646.2/1;CC=c.1963+885dupT;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.*613dupT;VC=3UTR;Gene=TRAK1/NM_014965.4/0;CC=c.*613dupT;VC=3UTR;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:114:73:51:0:62,1,51:1992,32,1559:0.00,1.40,146.46:0.00,1.51,68.63:0.00,-0.11,77.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.1,32.0,22.0:0,0,0:0,0,0:69,0,66:79,151,85:37,0,35:-,NM_001042646.2(TRAK1) c.1963+884_1963+885insT:-,0.22:-,NOT_FOUND 3 42254090 rs8528 G T 67 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.7476,T/0.2524;PC=1.000;Gene=TRAK1/NM_001265608.1/0;CC=c.*2341G>T;VC=3UTR;Gene=TRAK1/NM_001042646.2/1;CC=c.1963+2613G>T;VC=Intron;Gene=TRAK1/NM_001265609.1/0;CC=c.*2341G>T;VC=3UTR;Gene=TRAK1/NM_014965.4/0;CC=c.*2341G>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:46:15:0:0:22,24:705,693:0.00,66.76:0.00,16.46:0.00,50.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,42.7:0,0:0,0:93,96:52,52:26,26:-,NM_001042646.2(TRAK1) c.1963+2613G>T:-,0.28:-,NOT_FOUND 3 42254119 . G . . NT END=42258734;NT GT ./. 3 42259966 rs34290426 C T 140 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.7424,T/0.2576;Gene=TRAK1/NM_001042646.2/1;CC=c.1964-1020C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:107:91:0:0:60,47:1794,1490:0.00,139.56:0.00,97.39:0.00,42.17:0.00,1.00:0.00,1.00:0.00,1.00:60,70:16.6,55.3:0,0:0,0:70,72:62,61:34,25:-,NM_001042646.2(TRAK1) c.1964-1020C>T:-,0.29:-,NOT_FOUND 3 42260530 rs729822 T G 228 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=T/0.524,G/0.476;Gene=TRAK1/NM_001042646.2/1;CC=c.1964-456T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:141:81:0:0:71,70:2361,2108:227.59,0.00:115.89,0.00:111.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.6,9.9:0,0:0,0:73,70:78,75:34,23:NM_001042646.2(TRAK1) c.1964-456T>G,-:0.47,-:NOT_FOUND,- 3 42261089 . G . . NT END=42261990;NT GT ./. 3 42262084 . G . . NT END=42264433;NT GT ./. 3 42264393 rs3733053 A G 52 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=A/0.5246,C/.,G/0.4754;Gene=TRAK1/NM_001042646.2/1;CC=c.2067-41A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:65:56:0:0:45,20:1507,604:0.00,52.49:0.00,33.79:0.00,18.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,68.3:0,0:0,0:45,34:103,116:26,18:-,NM_001042646.2(TRAK1) c.2067-41A>G:-,0.47:-,0.475037 3 42264422 rs3733054 T C 113 nt VT=SNV;PN=T;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=T/0.5242,C/0.4758;Gene=TRAK1/NM_001042646.2/1;CC=c.2067-12T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:95:84:0:0:36,59:1233,1907:113.10,0.00:87.36,0.00:25.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.1,2.7:0,0:0,0:29,57:110,92:20,35:NM_001042646.2(TRAK1) c.2067-12T>C,-:0.48,-:0.481185,- 3 42265230 . G . . NT END=42299589;NT GT ./. 3 42265270 rs397791030 TCTC T 74 nt VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=TCTC/0.764,T/0.236;DB;DBA=NA;PAF=TCTC/0.764,T/0.236;NP=1478;Gene=TRAK1/NM_001042646.2/1;CC=c.*45_*47delCTC;VC=3UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCTC,T:51:11:0:26:26,25:791,773:0.00,73.91:0.00,13.32:0.00,60.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,20.5:1,0:0,0:120,103:31,47:24,33:-,NM_001042646.2(TRAK1) c.*42CTC[1]:-,0.26:-,0.265433 3 42265369 rs3774391 C T 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.7632,T/0.2368;PC=0.856;Gene=TRAK1/NM_001042646.2/1;CC=c.*140C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:20:0:0:0:8,12:211,367:0.00,36.65:0.00,0.00:0.00,36.65:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.0,41.6:0,0:0,0:83,102:57,48:23,23:-,NM_001042646.2(TRAK1) c.*140C>T:-,0.27:-,NOT_FOUND 3 42299724 . C . . NT END=42304908;NT GT ./. 3 42305123 . G . . NT END=42438756;NT GT ./. 3 42305131 rs754635 C G 711 nt VT=SNV;PN=G;NN=G;SST=Single;DP=194;DB;DBA=NA;PAF=C/0.2344,G/0.7656;PC=0.056;Gene=CCK/NM_001174138.1/0;CC=c.-2-7G>C;VC=Intron;Gene=CCK/NM_000729.4/1;CC=c.-2-7G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:194:118:0:0:194:6183:710.63:303.23:407.40:1.00:1.00:1.00:60:36.4:0:0:82:64:35:NM_000729.4(CCK) c.-2-7G>C,NM_000729.4(CCK) c.-2-7G>C:0.77,0.77:0.826209,0.826209 3 42315608 rs56183508 T TAC 12 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=133;NP=66;NP=9;PC=0.002;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:T,TAC:6:5:4:0:2,4:54,117:0.00,11.95:0.00,8.00:0.00,3.95:0.00,0.93:0.00,0.99:0.00,0.91:60,60:54.0,15.8:0,0:0,0:77,61:70,89:19,6:-,chr3 g.42315608_42315609insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 42315756 rs2083668 G A 30 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7762,A/0.2238;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:1:0:0:8:262:30.01:1.89:28.13:1.00:1.00:1.00:60:39.4:0:0:104:46:31:chr3 g.42315755G>A (intergenic),chr3 g.42315755G>A (intergenic):0.25,0.25:NOT_FOUND,NOT_FOUND 3 42438754 rs13054 T C 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.4091,A/.,C/0.5909,G/.;Gene=LYZL4/NM_001304386.1/1;CC=c.*3A>G;VC=3UTR;Gene=LYZL4/NM_144634.3/0;CC=c.*3A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:38:0:0:19,24:654,745:61.67,0.00:37.82,0.00:23.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,7.4:0,0:0,0:66,35:79,99:29,21:NM_144634.2(LYZL4) c.=,-:0.6,-:0.676834,- 3 42438827 . C . . NT END=42445537;NT GT ./. 3 42445617 . C . . NT END=42448337;NT GT ./. 3 42445679 rs40416 C A 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8153,A/0.1847;Gene=LYZL4/NM_001304386.1/1;CC=c.293-63G>T;VC=Intron;Gene=LYZL4/NM_144634.3/0;CC=c.293-63G>T;VC=Intron;DM=LYZL4/Lys GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:9:0:0:13,9:421,318:41.84,0.00:15.38,0.00:26.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,0.0:0,0:0,0:109,80:41,71:16,43:NM_144634.2(LYZL4) c.293-63G>T,-:0.18,-:0.279238,- 3 42448296 rs33518 T C 117 nt VT=SNV;PN=A;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.4022,C/0.5978;Gene=LYZL4/NM_001304386.1/1;CC=c.292+42A>G;VC=Intron;Gene=LYZL4/NM_144634.3/0;CC=c.292+42A>G;VC=Intron;DM=LYZL4/Lys GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:65:61:0:0:1,35,29:8,1195,947:-0.10,117.05,0.00:-0.15,92.86,0.00:0.05,24.19,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:201.0,34.9,0.8:0,0,0:0,0,0:87,33,42:64,110,105:0,18,28:NM_144634.2(LYZL4) c.292+42A>G,-:0.61,-:0.679609,- 3 42448491 . C . . NT END=42448604;NT GT ./. 3 42448804 . G . . NT END=42544227;NT GT ./. 3 42457486 . TATATACACACACACACACACACACAC T 11 nt VT=DEL;SST=Single;DP=9;NP=1;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:TATATACACACACACACACACACACAC,T:8:9:0:5:4,4:133,152:0.00,11.27:0.00,8.05:0.00,3.22:0.00,0.85:0.00,0.85:0.00,0.91:60,70:23.8,6.2:1,1:0,0:118,118:32,33:15,6:-,NM_144634.2(LYZL4) c.-249-u5447_-249-u5422delGTGTGTGTGTGTGTGTGTGTGTATAT:-,NOT_FOUND:-,NOT_FOUND 3 42469247 . GCGCACACA A,G 9 nt VT=DEL;SST=Single;DP=5;NP=52;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:23:A,GCGCACACA,G:5:4:0:4:1,1,3:31,5,82:2.80,0.00,8.65:2.80,0.00,5.07:0.00,0.00,3.57:0.00,0.00,0.78:0.00,0.00,0.97:0.00,0.00,0.87:60,60,60:64.0,131.0,63.0:0,0,0:0,0,0:73,118,67:45,32,84:0,0,29:chr3 g.42469247_42469254delGCGCACAC (intergenic),chr3 g.42469248_42469255delCGCACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 42486764 rs614062 T A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=2;NP=2;NP=2;NP=2;NP=210;NP=4;PC=0.027 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,T:4:3:0:0:3,1:102,33:10.65,0.00:5.43,0.00:5.23,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,17:121.7,36.0:1,0:0,0:61,30:72,43:36,0:chr3 g.42486763T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 42486799 rs10154967 T C 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:3:0:0:3,1:105,34:10.95,0.00:5.53,0.00:5.43,0.00:0.85,0.00:0.99,0.00:0.99,0.00:60,17:121.3,36.0:0,0:0,0:96,65:37,8:36,0:chr3 g.42486798T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 42544307 . T . . NT END=42554242;NT GT ./. 3 42554442 . G . . NT END=42555240;NT GT ./. 3 42555348 . T . . NT END=42560714;NT GT ./. 3 42560824 . T . . NT END=42567378;NT GT ./. 3 42565132 rs7652101 C CACACAT 11 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8291,T/0.1709;PC=0.003;Gene=VIPR1/NM_001251882.1/1;CC=c.170-2247_170-2246insACACAT;VC=Intron;Gene=VIPR1/NM_001251883.1/0;CC=c.-81-2247_-81-2246insACACAT;VC=Intron;Gene=VIPR1/NM_001251884.1/0;CC=c.152-2247_152-2246insACACAT;VC=Intron;Gene=VIPR1/NM_001251885.1/0;CC=c.212-2247_212-2246insACACAT;VC=Intron;Gene=VIPR1/NM_004624.3/0;CC=c.293-2247_293-2246insACACAT;VC=Intron;DM=VIPR1/HRM;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:CACACAT:3:4:4:0:3:129:10.66:8.83:1.83:0.85:0.85:0.99:70:3.7:1:0:40:81:9:NM_001251882.1(VIPR1) c.170-2247_170-2246insACACAT,NM_001251882.1(VIPR1) c.170-2247_170-2246insACACAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 42567487 . T . . NT END=42568884;NT GT ./. 3 42568990 . T . . NT END=42569482;NT GT ./. 3 42569069 rs2276831 C A 119 nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.7618,A/0.2382;Gene=VIPR1/NM_001251882.1/1;CC=c.380+81C>A;VC=Intron;Gene=VIPR1/NM_001251883.1/0;CC=c.26+1584C>A;VC=Intron;Gene=VIPR1/NM_001251884.1/0;CC=c.359+81C>A;VC=Intron;Gene=VIPR1/NM_001251885.1/0;CC=c.422+81C>A;VC=Intron;Gene=VIPR1/NM_004624.3/0;CC=c.503+81C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:A:31:2:0:0:31:1044:119.15:5.87:113.28:1.00:1.00:1.00:60:38.2:0:0:97:53:45:NM_001251882.1(VIPR1) c.380+81C>A,NM_001251882.1(VIPR1) c.380+81C>A:0.22,0.22:NOT_FOUND,NOT_FOUND 3 42569617 . T . . NT END=42572270;NT GT ./. 3 42572426 . T . . NT END=42572962;NT GT ./. 3 42573025 . T . . NT END=42573294;NT GT ./. 3 42573365 . A . . NT END=42573733;NT GT ./. 3 42573827 . T . . NT END=42576466;NT GT ./. 3 42576598 . T . . NT END=42576834;NT GT ./. 3 42576878 . T . . NT END=42577581;NT GT ./. 3 42577775 . C . . NT END=42590107;NT GT ./. 3 42592360 . C CT 29 idl,rn VT=INS;SST=Single;DP=77;PC=0.002;Gene=SEC22C/NM_001201584.1/0;CC=c.646-2212_646-2211insA;VC=Intron;Gene=SEC22C/NM_004206.3/1;CC=c.712-2212_712-2211insA;VC=Intron;Gene=SEC22C/NM_032970.3/0;CC=c.*2379_*2380insA;VC=3UTR;Gene=SEC22C/NM_001201572.1/0;CC=c.712-2212_712-2211insA;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,G,T,CT,D:71:41:13:14:49,1,1,12,8:1542,10,10,403,396:0.00,-0.15,-0.15,29.45,18.53:0.00,-0.10,-0.10,12.93,3.23:0.00,-0.05,-0.05,16.52,15.30:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:32.1,67.0,19.0,49.1,37.8:0,0,0,1,5:0,0,0,0,0:119,106,60,84,79:20,16,91,56,72:24,0,0,24,27:-,NM_032970.3(SEC22C) c.*2379dupA:-,NOT_FOUND:-,NOT_FOUND 3 42592382 . g . . NT END=42592606;NT GT ./. 3 42592867 . t . . NT END=42593108;NT GT ./. 3 42593000 . AT A 7 rn VT=DEL;SST=Single;DP=29;PC=0.002;Gene=SEC22C/NM_001201584.1/0;CC=c.646-2852delA;VC=Intron;Gene=SEC22C/NM_004206.3/1;CC=c.712-2852delA;VC=Intron;Gene=SEC22C/NM_032970.3/0;CC=c.*1739delA;VC=3UTR;Gene=SEC22C/NM_001201572.1/0;CC=c.712-2852delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:AT,T,I,A:29:11:3:3:22,1,3,3:709,34,85,100:0.00,2.08,5.94,7.43:0.00,2.29,1.81,2.51:0.00,-0.21,4.12,4.92:0.00,0.00,0.00,0.43:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.76:60,60,60,60:18.6,45.0,62.0,0.0:0,0,0,0:0,0,0,0:86,68,54,82:64,83,97,67:31,0,27,13:-,NM_032970.3(SEC22C) c.*1729A[10]:-,NOT_FOUND:-,NOT_FOUND 3 42594299 . G GA 21 rn VT=INS;SST=Single;DP=79;Gene=SEC22C/NM_001201584.1/0;CC=c.646-4151dupT;VC=Intron;Gene=SEC22C/NM_004206.3/1;CC=c.711+3122dupT;VC=Intron;Gene=SEC22C/NM_032970.3/0;CC=c.*440dupT;VC=3UTR;Gene=SEC22C/NM_001201572.1/0;CC=c.711+3122dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,C,G,GA,D:79:56:10:1:1,1,66,10,1:34,11,2117,292,29:1.62,-0.22,0.00,21.13,1.13:0.77,-0.23,0.00,11.30,-0.23:0.85,0.01,0.00,9.83,1.36:0.00,0.00,0.00,0.98,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.98,0.00:60,24,60,70,60:34.0,84.0,6.5,11.3,44.0:0,0,0,0,0:0,0,0,0,0:12,131,66,90,83:79,15,83,42,67:0,0,34,28,0:-,NM_032970.3(SEC22C) c.*440dupT:-,NOT_FOUND:-,NOT_FOUND 3 42594941 . C . . NT END=42597421;NT GT ./. 3 42597488 . C . . NT END=42599069;NT GT ./. 3 42599189 . C . . NT END=42602608;NT GT ./. 3 42602789 . C . . NT END=42605014;NT GT ./. 3 42605179 . C . . NT END=42605256;NT GT ./. 3 42605473 . c . . NT END=42610356;NT GT ./. 3 42610142 rs71288044 G GA 9 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=18;Gene=SEC22C/NM_001201584.1/0;CC=c.182+214_182+215insT;VC=Intron;Gene=SEC22C/NM_004206.3/1;CC=c.182+214_182+215insT;VC=Intron;Gene=SEC22C/NM_032970.3/0;CC=c.182+214_182+215insT;VC=Intron;Gene=SEC22C/NM_001201572.1/0;CC=c.182+214_182+215insT;VC=Intron;DM=SEC22C/Longin;DM=SEC22C/Longin;DM=SEC22C/Longin;DM=SEC22C/Longin;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:G,GA,D:10:10:3:2:5,3,2:173,99,60:0.00,8.99,5.07:0.00,8.99,5.07:0.00,0.00,0.00:0.00,0.62,0.00:0.00,0.62,0.00:0.00,0.00,0.00:60,60,60:13.2,3.0,13.5:0,0,0:0,0,0:31,26,7:119,125,143:27,4,4:-,NM_032970.3(SEC22C) c.182+214_182+215insT:-,NOT_FOUND:-,NOT_FOUND 3 42610539 . G . . NT END=42632389;NT GT ./. 3 42632459 . G . . NT END=42633016;NT GT ./. 3 42633094 . G . . NT END=42635913;NT GT ./. 3 42636002 . T . . NT END=42642498;NT GT ./. 3 42642557 . G . . NT END=42659061;NT GT ./. 3 42659137 . G . . NT END=42660511;NT GT ./. 3 42659249 rs375352338 TA T 8 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=8;PC=0.945;Gene=NKTR/NM_005385.3/1;CC=c.133+125delA;VC=Intron;Gene=LOC101928323/NR_125400.1/0;VC=NonCoding;DM=NKTR/Pro_isomerase;DM=NKTR/Pro_isomerase;DM=NKTR/Pro_isomerase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:TA,T:8:0:0:4:5,3:131,117:0.00,7.94:0.00,0.00:0.00,7.94:0.00,0.64:0.00,0.00:0.00,0.64:60,60:44.0,37.7:0,1:0,0:113,76:22,74:24,17:-,NM_005385.3(NKTR) c.133+114delA:-,NOT_FOUND:-,NOT_FOUND 3 42660330 rs1474531 G T 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=1073;Gene=NKTR/NM_005385.3/1;CC=c.134-182G>T;VC=Intron;Gene=LOC101928323/NR_125400.1/0;VC=NonCoding;DM=NKTR/Pro_isomerase;DM=NKTR/Pro_isomerase;DM=NKTR/Pro_isomerase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:306:35.37:35.37:0.00:1.00:1.00:0.00:60:65.7:0:0:43:107:18:NM_005385.3(NKTR) c.134-182G>T,NM_005385.3(NKTR) c.134-182G>T:1,1:NOT_FOUND,NOT_FOUND 3 42660489 rs60589015 CT C 28 idl,rn VT=DEL;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.990;Gene=NKTR/NM_005385.3/1;CC=c.134-5delT;VC=Intron;Gene=LOC101928323/NR_125400.1/0;VC=NonCoding;DM=NKTR/Pro_isomerase;DM=NKTR/Pro_isomerase;DM=NKTR/Pro_isomerase;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:34:32:4:12:21,3,10:643,127,385:0.00,6.79,28.32:0.00,4.27,22.82:0.00,2.52,5.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.95:60,60,60:34.0,106.3,45.4:0,1,2:0,0,0:88,52,47:55,98,103:26,22,16:-,NM_005385.3(NKTR) c.134-22delT:-,NOT_FOUND:-,NOT_FOUND 3 42663009 . G . . NT END=42668639;NT GT ./. 3 42668803 rs536244571 G GA 11 sb,rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;PC=0.877;Gene=NKTR/NM_005385.3/1;CC=c.375-3224dupA;VC=Intron;Gene=LOC101928323/NR_125400.1/0;VC=NonCoding;DM=NKTR/Pro_isomerase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:A,G,GA:56:42:6:0:1,50,5:8,1615,192:-0.29,0.00,11.22:-0.26,0.00,0.98:-0.03,0.00,10.23:0.00,0.00,0.71:0.00,0.00,0.93:0.00,0.00,0.83:60,60,60:181.0,9.6,8.0:0,0,1:0,0,0:51,60,52:84,85,97:0,32,31:-,NM_005385.3(NKTR) c.375-3235_375-3234insA:-,NOT_FOUND:-,NOT_FOUND 3 42670234 . c . . NT END=42670500;NT GT ./. 3 42671680 . G GT 22 idl,rn VT=INS;SST=Single;DP=106;NP=1;Gene=NKTR/NM_005385.3/1;CC=c.375-347dupT;VC=Intron;Gene=LOC101928323/NR_125400.1/0;VC=NonCoding;DM=NKTR/Pro_isomerase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,T,GT,D:104:68:12:7:86,1,10,7:2720,8,361,226:0.00,-0.28,21.63,15.14:0.00,-0.16,12.78,6.50:0.00,-0.12,8.85,8.64:0.00,0.00,0.98,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:60,60,60,60:11.1,33.0,41.9,16.7:0,0,2,0:0,0,0,0:64,93,52,81:81,58,87,70:28,0,20,12:-,NM_005385.3(NKTR) c.375-358_375-357insT:-,NOT_FOUND:-,NOT_FOUND 3 42672809 . G . . NT END=42674092;NT GT ./. 3 42674563 . g . . NT END=42674813;NT GT ./. 3 42675228 . G . . NT END=42676104;NT GT ./. 3 42676193 . G . . NT END=42676712;NT GT ./. 3 42676549 . TA T 12 idl,rn VT=DEL;SST=Single;DP=17;PC=0.001;Gene=NKTR/NM_005385.3/1;CC=c.1018-143delA;VC=Intron;Gene=LOC101928323/NR_125400.1/0;VC=NonCoding;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:TA,I,T:14:17:1:7:9,1,4:293,33,232:0.00,2.31,11.75:0.00,2.31,11.75:0.00,0.00,0.00:0.00,0.00,0.74:0.00,0.00,0.74:0.00,0.00,0.00:60,60,60:20.0,70.0,12.5:0,0,3:0,0,0:85,55,29:42,96,122:45,0,14:-,NM_005385.3(NKTR) c.1018-163delA:-,NOT_FOUND:-,NOT_FOUND 3 42676859 . G . . NT END=42678359;NT GT ./. 3 42681243 . G . . NT END=42683992;NT GT ./. 3 42684089 . G . . NT END=42684830;NT GT ./. 3 42684888 . G . . NT END=42685390;NT GT ./. 3 42685496 . G . . NT END=42687379;NT GT ./. 3 42687468 . A . . NT END=42696184;NT GT ./. 3 42696188 . G . . NT END=42699766;NT GT ./. 3 42700697 . g . . NT END=42700890;NT GT ./. 3 42701321 . G . . NT END=42702976;NT GT ./. 3 42703125 . G . . NT END=42704503;NT GT ./. 3 42704620 . G . . NT END=42705288;NT GT ./. 3 42705434 . G . . NT END=42705728;NT GT ./. 3 42706091 . C . . NT END=42727110;NT GT ./. 3 42715279 rs58762976 T TTGTG 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=19;NP=2;NP=42;PC=0.025;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TTGTG:4:5:5:0:4:160:14.12:12.43:1.69:0.96:0.96:0.87:60:44.5:1:0:17:134:5:chr3 g.42715279_42715280insTGTG (intergenic),chr3 g.42715279_42715280insTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 42728144 rs6805421 A G 484 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=126;DB;DBA=NA;PAF=A/0.3774,G/0.6226;PC=0.915;Gene=KLHL40/NM_152393.3/1;CC=c.1034A>G;ProtCh=p.N345S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:126:85:0:0:126:4242:484.18:236.70:247.48:1.00:1.00:1.00:60:39.0:0:0:69:78:35:NM_152393.2(KBTBD5) c.1034A>G (p.Asn345Ser),NM_152393.2(KBTBD5) c.1034A>G (p.Asn345Ser):0.65,0.65:0.559895,0.559895 3 42728263 . G . . NT END=42729633;NT GT ./. 3 42729795 . G . . NT END=42730101;NT GT ./. 3 42730210 . G . . NT END=42730360;NT GT ./. 3 42730547 . G . . NT END=42732350;NT GT ./. 3 42732498 . G . . NT END=42733373;NT GT ./. 3 42733174 rs61163642 G C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4796,C/0.5204;Gene=KLHL40/NM_152393.3/1;CC=c.1755-200G>C;VC=Intron;DM=KLHL40/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:188:22.08:22.08:0.00:1.00:1.00:0.00:60:67.6:0:0:31:118:23:NM_152393.2(KBTBD5) c.1755-200G>C,NM_152393.2(KBTBD5) c.1755-200G>C:0.54,0.54:NOT_FOUND,NOT_FOUND 3 42733468 rs123509 T C 235 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.1002,C/0.8998;PC=1.000;Gene=KLHL40/NM_152393.3/1;CC=c.1849T>C;ProtCh=p.C617R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:180:C:64:45:0:0:64:2050:235.35:119.50:115.85:1.00:1.00:1.00:60:37.8:0:0:95:45:25:NM_152393.2(KBTBD5) c.1849T>C (p.Cys617Arg),NM_152393.2(KBTBD5) c.1849T>C (p.Cys617Arg):0.88,0.88:0.805167,0.805167 3 42733486 . C . . NT END=42734242;NT GT ./. 3 42733667 rs3846062 A C 45 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4193,C/0.5807;PC=0.038;Gene=KLHL40/NM_152393.3/1;CC=c.*182A>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A,C:13:0:0:0:1,12:8,409:0.00,45.34:0.00,0.00:0.00,45.34:0.00,1.00:0.00,0.00:0.00,1.00:60,60:122.0,46.6:0,0:0,0:59,126:72,24:0,16:NM_152393.2(KBTBD5) c.*182A>C,NM_152393.2(KBTBD5) c.*182A>C:0.59,0.59:NOT_FOUND,NOT_FOUND 3 42734368 . C . . NT END=42734568;NT GT ./. 3 42734711 . C . . NT END=42735108;NT GT ./. 3 42735150 rs11079 T C 248 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.3508,C/0.6492;PC=1.000;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.1207A>G;ProtCh=p.M403V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:66:52:0:0:66:2168:248.22:141.29:106.93:1.00:1.00:1.00:60:43.4:0:0:73:76:32:NM_020707.3(HHATL) c.1207A>G (p.Met403Val),NM_020707.3(HHATL) c.1207A>G (p.Met403Val):0.65,0.65:0.611256,0.611256 3 42735274 rs339697 A G 245 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.2995,G/0.7005;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.1083T>C;ProtCh=p.A361=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:35:0:0:69:2121:244.87:79.48:165.39:1.00:1.00:1.00:60:39.9:0:0:73:65:34:NM_020707.3(HHATL) c.1083T>C (p.(=)),NM_020707.3(HHATL) c.1083T>C (p.(=)):0.68,0.68:0.661618,0.661618 3 42735311 . C . . NT END=42738333;NT GT ./. 3 42738297 rs2290973 G A 170 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.5226,A/0.4774;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.1046+37C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A,G:47:40:0:0:46,1:1501,11:170.24,0.00:108.50,0.00:61.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.0,95.0:0,0:0,0:37,114:105,10:22,0:NM_020707.3(HHATL) c.1046+37C>T,NM_020707.3(HHATL) c.1046+37C>T:0.5,0.5:0.447024,0.447024 3 42738370 . C . . NT END=42738492;NT GT ./. 3 42738638 . C . . NT END=42738999;NT GT ./. 3 42739172 . C . . NT END=42739633;NT GT ./. 3 42739844 . C . . NT END=42740199;NT GT ./. 3 42740025 rs34722222 GA G 63 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=GA/0.6655,G/0.3345;NP=617;PC=0.010;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.483+174delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:11:0:18:18:540:62.57:38.53:24.03:1.00:1.00:1.00:70:27.4:0:0:77:68:26:NM_020707.3(HHATL) c.483+174delT,NM_020707.3(HHATL) c.483+174delT:0.31,0.31:NOT_FOUND,NOT_FOUND 3 42740395 . C . . NT END=42740523;NT GT ./. 3 42740638 . C . . NT END=42741249;NT GT ./. 3 42740860 rs60176972 C A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8037,A/0.1963;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.175-223G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:121:14.01:0.00:14.01:1.00:0.00:1.00:60:89.8:0:0:121:29:10:NM_020707.3(HHATL) c.175-223G>T,NM_020707.3(HHATL) c.175-223G>T:0.2,0.2:NOT_FOUND,NOT_FOUND 3 42741318 . C . . NT END=42742212;NT GT ./. 3 42741572 rs138596367 C CTG 12 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=5;PC=0.581;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.107-256_107-255insCA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,CTG:11:6:4:0:7,4:214,128:0.00,11.59:0.00,7.75:0.00,3.83:0.00,0.82:0.00,0.92:0.00,0.94:60,60:60.6,26.2:1,0:0,0:102,33:47,117:38,12:-,NM_020707.3(HHATL) c.107-256_107-255insCA:-,NOT_FOUND:-,NOT_FOUND 3 42741852 rs201631175 CTG C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTG/0.6747,C/0.3253;DB;DBA=NA;PAF=CTG/0.6747,C/0.3253;NP=5;PC=0.806;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.106+359_106+360delCA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:CTG,C:4:2:0:3:1,3:12,99:0.00,10.38:0.00,7.40:0.00,2.98:0.00,0.85:0.00,0.95:0.00,0.95:13,60:15.0,24.0:1,0:0,0:51,44:94,107:0,30:-,NM_020707.3(HHATL) c.106+359_106+360delCA:-,NOT_FOUND:-,NOT_FOUND 3 42741936 . CTG C 13 sb,rn VT=DEL;SST=Single;DP=5;NP=26;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.106+275_106+276delCA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:CTG,C:5:4:0:5:1,4:34,121:0.00,12.92:0.00,11.73:0.00,1.19:0.00,0.96:0.00,1.00:0.00,0.97:13,60:15.0,16.8:0,0:0,0:135,58:10,92:0,24:-,NM_020707.3(HHATL) c.106+275_106+276delCA:-,NOT_FOUND:-,NOT_FOUND 3 42742319 . A . . NT END=42750471;NT GT ./. 3 42742570 rs9837412 C G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7071,G/0.2929;Gene=HHATL/NR_027753.1/0;VC=NonCoding;Gene=HHATL/NM_020707.3/1;CC=c.-13-239G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:126:14.51:0.00:14.51:1.00:0.00:1.00:60:51.0:0:0:138:11:9:NM_020707.3(HHATL) c.-13-239G>C,NM_020707.3(HHATL) c.-13-239G>C:0.26,0.26:NOT_FOUND,NOT_FOUND 3 42750324 rs2240861 G A 90 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.8009,A/0.1991;Gene=CCDC13/NM_144719.3/1;CC=c.*148C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:25:0:0:25:785:90.34:90.34:0.00:1.00:1.00:0.00:60:45.2:0:0:42:109:26:NM_144719.3(CCDC13) c.*148C>T,NM_144719.3(CCDC13) c.*148C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 3 42750632 . C . . NT END=42751175;NT GT ./. 3 42751291 . C . . NT END=42754653;NT GT ./. 3 42754353 rs7639483 T C 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4744,C/0.5256;Gene=CCDC13/NM_144719.3/1;CC=c.1873+301A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:120:13.89:13.89:0.00:1.00:1.00:0.00:60:35.8:0:0:30:120:14:NM_144719.3(CCDC13) c.1873+301A>G,NM_144719.3(CCDC13) c.1873+301A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 3 42754505 rs11713172 C T 101 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.8013,T/0.1987;Gene=CCDC13/NM_144719.3/1;CC=c.1873+149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:27:0:0:27:881:100.91:100.91:0.00:1.00:1.00:0.00:60:37.1:0:0:43:102:31:NM_144719.3(CCDC13) c.1873+149G>A,NM_144719.3(CCDC13) c.1873+149G>A:0.2,0.2:NOT_FOUND,NOT_FOUND 3 42754809 . C . . NT END=42771958;NT GT ./. 3 42754912 rs3895740 A G 146 nt VT=SNV;PN=T;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.4746,G/0.5254;Gene=CCDC13/NM_144719.3/1;CC=c.1719-104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:G,T:41:7:0:0:40,1:1273,29:145.92,1.76:13.73,0.00:132.19,1.76:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.4,29.0:0,0:0,0:116,149:33,2:26,0:NM_144719.3(CCDC13) c.1719-104T>C,NM_144719.3(CCDC13) c.1719-104T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 3 42772082 . C . . NT END=42774378;NT GT ./. 3 42772180 rs10865921 C T 188 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.7256,T/0.2744;PC=0.006;Gene=CCDC13/NM_144719.3/1;CC=c.1596-99G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:T:52:16:0:0:52:1632:187.86:34.22:153.64:1.00:1.00:1.00:60:39.7:0:0:106:38:25:NM_144719.3(CCDC13) c.1596-99G>A,NM_144719.3(CCDC13) c.1596-99G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 3 42774463 . C . . NT END=42774961;NT GT ./. 3 42774475 rs17074778 G A 205 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.7256,A/0.2744;PC=0.777;Gene=CCDC13/NM_144719.3/1;CC=c.1512-13C>T;VC=Intron;Gene=CCDC13-AS1/NR_046732.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:A:53:37:0:0:53:1796:204.83:94.09:110.74:1.00:1.00:1.00:60:41.0:0:0:84:59:22:NM_144719.3(CCDC13) c.1512-13C>T,NM_144719.3(CCDC13) c.1512-13C>T:0.28,0.28:0.244376,0.244376 3 42775150 . C . . NT END=42777198;NT GT ./. 3 42777406 . C . . NT END=42781125;NT GT ./. 3 42781276 rs62246603 G T 267 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.8009,T/0.1991;PC=0.998;Gene=CCDC13/NM_144719.3/1;CC=c.1014C>A;ProtCh=p.L338=;VC=Silent;Gene=CCDC13-AS1/NR_046732.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:75:43:0:0:75:2312:266.84:102.13:164.70:1.00:1.00:1.00:60:57.5:0:0:81:62:37:NM_144719.3(CCDC13) c.1014C>A (p.(=)),NM_144719.3(CCDC13) c.1014C>A (p.(=)):0.2,0.2:0.233046,0.233046 3 42781303 . C . . NT END=42784387;NT GT ./. 3 42781316 rs11709500 G A 189 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.8009,A/0.1991;Gene=CCDC13/NM_144719.3/1;CC=c.988-14C>T;VC=Intron;Gene=CCDC13-AS1/NR_046732.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:A:53:20:0:0:53:1640:189.20:42.18:147.03:1.00:1.00:1.00:60:70.9:0:0:103:47:24:NM_144719.3(CCDC13) c.988-14C>T,NM_144719.3(CCDC13) c.988-14C>T:0.2,0.2:0.232816,0.232816 3 42781532 rs10865922 C G 18 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4988,G/0.5012;Gene=CCDC13/NM_144719.3/1;CC=c.988-230G>C;VC=Intron;Gene=CCDC13-AS1/NR_046732.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:156:17.98:0.00:17.98:1.00:0.00:1.00:60:43.8:0:0:145:6:5:NM_144719.3(CCDC13) c.988-230G>C,NM_144719.3(CCDC13) c.988-230G>C:0.48,0.48:NOT_FOUND,NOT_FOUND 3 42784216 rs12054446 A G 78 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.4988,G/0.5012;Gene=CCDC13/NM_144719.3/1;CC=c.987+172T>C;VC=Intron;Gene=CCDC13-AS1/NR_046732.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:22:0:0:22:678:78.21:78.21:0.00:1.00:1.00:0.00:60:40.8:0:0:50:99:37:NM_144719.3(CCDC13) c.987+172T>C,NM_144719.3(CCDC13) c.987+172T>C:0.48,0.48:NOT_FOUND,NOT_FOUND 3 42784550 . C . . NT END=42787414;NT GT ./. 3 42784630 rs12635736 A G 158 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.4762,G/0.5238;Gene=CCDC13/NM_144719.3/1;CC=c.826-81T>C;VC=Intron;Gene=CCDC13-AS1/NR_046732.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:G:44:6:0:0:44:1367:157.62:11.13:146.49:1.00:1.00:1.00:60:35.5:0:0:105:41:28:NM_144719.3(CCDC13) c.826-81T>C,NM_144719.3(CCDC13) c.826-81T>C:0.5,0.5:NOT_FOUND,NOT_FOUND 3 42787469 rs2240859 A G 231 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.4986,G/0.5014;PC=0.994;Gene=CCDC13/NM_144719.3/1;CC=c.771T>C;ProtCh=p.S257=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:A,G:61:41:0:0:1,60:12,2039:0.00,230.65:0.00,103.48:0.00,127.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,41.1:0,0:0,0:127,80:19,69:0,27:NM_144719.3(CCDC13) c.771T>C (p.(=)),NM_144719.3(CCDC13) c.771T>C (p.(=)):0.48,0.48:0.487467,0.487467 3 42787520 . C . . NT END=42788748;NT GT ./. 3 42788866 . C . . NT END=42793427;NT GT ./. 3 42793337 rs11929390 T C 155 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.4994,C/0.5006;Gene=CCDC13/NM_144719.3/1;CC=c.603+91A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:C:44:44:0:0:44:1337:154.55:152.71:1.84:1.00:1.00:1.00:60:38.1:0:0:47:103:26:NM_144719.3(CCDC13) c.603+91A>G,NM_144719.3(CCDC13) c.603+91A>G:0.48,0.48:NOT_FOUND,NOT_FOUND 3 42793518 . C . . NT END=42794066;NT GT ./. 3 42794210 . C . . NT END=42798557;NT GT ./. 3 42794333 rs55904344 G C 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8011,C/0.1989;PC=0.007;Gene=CCDC13/NM_144719.3/1;CC=c.371-124C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:3:0:0:21:616:71.58:7.75:63.83:1.00:1.00:1.00:60:36.3:0:0:127:23:14:NM_144719.3(CCDC13) c.371-124C>G,NM_144719.3(CCDC13) c.371-124C>G:0.2,0.2:NOT_FOUND,NOT_FOUND 3 42798707 . C . . NT END=42799616;NT GT ./. 3 42799554 rs58407095 T TAC 69 idl,rn VT=INS;SST=Single;DP=56;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=78;Gene=CCDC13/NM_144719.3/1;CC=c.221+62_221+63insGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAC,D:43:55:34:3:19,22,2:548,1049,92:0.00,68.66,3.58:0.00,63.92,3.59:0.00,4.74,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.97,0.00:60,60,60:12.4,20.8,28.5:1,12,1:0,0,0:89,48,49:35,101,102:49,33,18:-,NM_144719.3(CCDC13) c.221+62_221+63insGT:-,NOT_FOUND:-,NOT_FOUND 3 42799765 rs17238798 G A 515 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=141;DB;DBA=NA;PAF=G/0.8323,A/0.1677;PC=0.021;Gene=CCDC13/NM_144719.3/1;CC=c.73C>T;ProtCh=p.R25W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:141:93:0:0:141:4479:514.81:257.77:257.04:1.00:1.00:1.00:60:54.1:0:0:78:73:44:NM_144719.3(CCDC13) c.73C>T (p.Arg25Trp),NM_144719.3(CCDC13) c.73C>T (p.Arg25Trp):0.18,0.18:0.199293,0.199293 3 42799838 . C . . NT END=42826762;NT GT ./. 3 42799858 rs339678 T A 376 nt VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.02057,A/0.9794;PC=0.003;Gene=CCDC13/NM_144719.3/1;CC=c.-6-15A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:99:46:0:0:99:3290:376.08:110.14:265.94:1.00:1.00:1.00:60:57.7:0:0:94:51:23:NM_144719.3(CCDC13) c.-6-15A>T,NM_144719.3(CCDC13) c.-6-15A>T:0.98,0.98:0.962248,0.962248 3 42826813 . C . . NT END=42827519;NT GT ./. 3 42827437 rs4683332 C T 24 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.6512,T/0.3488;PC=0.006;Gene=HIGD1A/NM_001099668.1/0;CC=c.274+83G>A;VC=Intron;Gene=HIGD1A/NM_001099669.1/0;CC=c.232+83G>A;VC=Intron;Gene=HIGD1A/NM_014056.3/1;CC=c.232+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:21:0:0:14,9:468,260:0.00,23.60:0.00,22.84:0.00,0.76:0.00,1.00:0.00,1.00:0.00,0.97:60,60:1.5,34.0:0,0:0,0:41,49:104,102:20,25:-,NM_001099668.1(HIGD1A) c.274+83G>A:-,0.37:-,NOT_FOUND 3 42827655 . C . . NT END=42835648;NT GT ./. 3 42835792 . C . . NT END=42845663;NT GT ./. 3 42835889 rs6764909 A G 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.5865,G/0.4135;Gene=HIGD1A/NM_001099668.1/0;CC=c.21-122T>C;VC=Intron;Gene=HIGD1A/NM_001099669.1/0;CC=c.-46-98T>C;VC=Intron;Gene=HIGD1A/NM_014056.3/1;CC=c.-22-122T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:A,G:15:3:0:0:6,9:172,301:0.00,30.02:0.00,7.11:0.00,22.91:0.00,1.00:0.00,0.94:0.00,1.00:60,60:5.5,56.4:0,0:0,0:127,117:23,34:18,9:-,NM_001099668.1(HIGD1A) c.21-122T>C:-,0.41:-,NOT_FOUND 3 42845684 . C . . NT END=42892827;NT GT ./. 3 42857681 rs72046848 CGT C 10 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=78;PC=0.040;Gene=ACKR2/NM_001296.4/1;CC=c.-118-3411_-118-3410delGT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:CGT,I,C:7:7:2:3:2,2,3:71,64,98:0.00,5.97,9.64:0.00,4.55,6.47:0.00,1.42,3.17:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.93:60,60,60:0.0,0.0,10.7:0,0,0:0,0,0:73,50,77:53,101,74:3,40,25:-,NM_001296.4(CCBP2) c.-118-3441_-118-3440delGT:-,NOT_FOUND:-,NOT_FOUND 3 42892947 . G . . NT END=42905957;NT GT ./. 3 42906116 rs2228467 T C 172 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=T/0.981,C/0.01897;PC=0.985;Gene=ACKR2/NM_001296.4/1;CC=c.122T>C;ProtCh=p.V41A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:127:86:0:0:57,2,68:1824,19,2137:172.09,-0.20,0.00:88.59,0.02,0.00:83.50,-0.22,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.6,9.5,7.0:0,0,0:0,0,0:89,74,77:60,75,68:33,50,36:NM_001296.4(CCBP2) c.122T>C (p.Val41Ala),-:0.03,-:0.048824,- 3 42907150 . G . . NT END=42915802;NT GT ./. 3 42917047 rs9865715 A G 377 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.01558,C/.,G/0.9844;PC=0.306;Gene=CYP8B1/NM_004391.2/1;CC=c.262T>C;ProtCh=p.S88P;VC=Missense;DM=CYP8B1/p450 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:113:62:0:0:1,112:11,3262:0.00,377.18:0.00,174.57:0.00,202.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,37.6:0,0:0,0:45,75:102,73:0,38:NM_004391.2(CYP8B1) c.262T>C (p.Ser88Pro),NM_004391.2(CYP8B1) c.262T>C (p.Ser88Pro):0.99,0.99:0.9837,0.9837 3 42917309 . G . . NT END=42947843;NT GT ./. 3 42947776 rs6789928 T C 230 nt VT=SNV;PN=C;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.0603,C/0.9397;PC=0.001;Gene=ZNF662/NM_207404.3/1;CC=c.-94+116T>C;VC=Intron;Gene=ZNF662/NM_001134656.1/0;CC=c.-68T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:A,C:63:59:0:0:1,62:12,2008:0.23,229.89:0.23,164.20:0.00,65.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:135.0,41.8:0,0:0,0:119,34:32,111:0,17:NM_001134656.1(ZNF662) c.-68T>C,NM_001134656.1(ZNF662) c.-68T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 3 42947934 . G . . NT END=42949095;NT GT ./. 3 42950022 . T . . NT END=42950284;NT GT ./. 3 42950403 . T . . NT END=42954692;NT GT ./. 3 42954796 . T . . NT END=42955818;NT GT ./. 3 42954912 rs11129987 C T 62 nt VT=SNV;PN=C;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.2402,T/0.7598;Gene=ZNF662/NM_207404.3/1;CC=c.253+118C>T;VC=Intron;Gene=ZNF662/NM_001134656.1/0;CC=c.332-907C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:0:0:0:17:537:61.76:0.00:61.76:1.00:0.00:1.00:60:41.8:0:0:107:44:23:NM_001134656.1(ZNF662) c.332-907C>T,NM_001134656.1(ZNF662) c.332-907C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 3 42956273 rs1427801 T C 463 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.0609,C/0.9391,G/.;Gene=ZNF662/NM_207404.3/1;CC=c.708T>C;ProtCh=p.I236=;VC=Silent;Gene=ZNF662/NM_001134656.1/0;CC=c.786T>C;ProtCh=p.I262=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:132:83:0:0:132:4003:462.83:239.89:222.94:1.00:1.00:1.00:60:40.2:0:0:73:76:45:NM_001134656.1(ZNF662) c.786T>C (p.(=)),NM_001134656.1(ZNF662) c.786T>C (p.(=)):0.94,0.94:0.931724,0.931724 3 42956848 . G . . NT END=42980387;NT GT ./. 3 42956984 rs834579 A G 36 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2402,G/0.7598;Gene=ZNF662/NM_207404.3/1;CC=c.*138A>G;VC=3UTR;Gene=ZNF662/NM_001134656.1/0;CC=c.*138A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:317:36.42:0.00:36.42:1.00:0.00:1.00:60:42.7:0:0:104:46:21:NM_001134656.1(ZNF662) c.*138A>G,NM_001134656.1(ZNF662) c.*138A>G:0.77,0.77:NOT_FOUND,NOT_FOUND 3 42980424 . G . . NT END=42982717;NT GT ./. 3 42982845 . G . . NT END=42983449;NT GT ./. 3 42983564 . G . . NT END=42984029;NT GT ./. 3 42984140 . t . . NT END=43021134;NT GT ./. 3 43021138 . G . . NT END=43073758;NT GT ./. 3 43073761 rs658958 G A 117 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.5617,A/0.4383;Gene=FAM198A/NM_001129908.2/1;CC=c.6G>A;ProtCh=p.A2=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:66:0:0:39,46:1241,1416:117.27,0.00:77.88,0.00:39.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,5.6:0,0:0,0:49,61:99,83:32,37:NM_001129908.2(FAM198A) c.6G>A (p.(=)),-:0.47,-:0.383706,- 3 43074430 rs2948619 A G 241 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=186;DB;DBA=NA;PAF=A/0.3249,G/0.6751;Gene=FAM198A/NM_001129908.2/1;CC=c.675A>G;ProtCh=p.G225=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:186:131:0:0:103,83:3328,2568:0.00,240.83:0.00,114.99:0.00,125.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.9,66.5:0,0:0,0:68,57:78,92:33,32:-,NM_001129908.2(FAM198A) c.675A>G (p.(=)):-,0.67:-,0.575996 3 43074434 rs2936817 C T 243 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=185;DB;DBA=NA;PAF=C/0.5613,T/0.4387;Gene=FAM198A/NM_001129908.2/1;CC=c.679C>T;ProtCh=p.H227Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:185:130:0:0:101,1,83:3320,12,2585:0.00,-0.13,243.04:0.00,-0.13,113.25:0.00,-0.00,129.79:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:11.2,142.0,67.6:0,0,0:0,0,0:79,104,54:72,25,97:33,0,27:-,NM_001129908.2(FAM198A) c.679C>T (p.His227Tyr):-,0.47:-,0.383049 3 43074871 rs588335 A G 745 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=206;DB;DBA=NA;PAF=A/0.05172,G/0.9483;Gene=FAM198A/NM_001129908.2/1;CC=c.1116A>G;ProtCh=p.A372=;VC=Silent;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:206:138:0:0:1,205:11,6486:0.07,744.98:0.07,345.47:0.00,399.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,40.7:0,0:0,0:102,75:49,68:0,38:NM_001129908.2(FAM198A) c.1116A>G (p.(=)),NM_001129908.2(FAM198A) c.1116A>G (p.(=)):0.95,0.95:0.943933,0.943933 3 43075046 . G . . NT END=43095012;NT GT ./. 3 43078542 rs578119 T C 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.05671,C/0.9433;PC=0.200;Gene=FAM198A/NM_001129908.2/1;CC=c.1290+3497T>C;VC=Intron;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:4:0:0:4:116:13.46:13.46:0.00:1.00:1.00:0.00:60:29.0:0:0:79:71:16:NM_001129908.2(FAM198A) c.1290+3497T>C,NM_001129908.2(FAM198A) c.1290+3497T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 43079057 rs648273 G A 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4926,A/0.5074;PC=1.000;Gene=FAM198A/NM_001129908.2/1;CC=c.1290+4012G>A;VC=Intron;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:4:0:0:0:2,2:66,60:6.35,0.00:0.00,0.00:6.35,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:60.0,10.5:0,0:0,0:62,104:86,46:53,42:NM_001129908.2(FAM198A) c.1290+4012G>A,-:0.56,-:NOT_FOUND,- 3 43094888 rs534284 G C 204 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.05292,C/0.9471;PC=0.001;Gene=FAM198A/NM_001129908.2/1;CC=c.1291-125G>C;VC=Intron;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C:53:48:0:0:53:1790:204.26:162.28:41.98:1.00:1.00:1.00:60:37.8:0:0:28:123:20:NM_001129908.2(FAM198A) c.1291-125G>C,NM_001129908.2(FAM198A) c.1291-125G>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 43095101 rs536119 A G 148 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=A/0.4589,G/0.5411;PC=0.469;Gene=FAM198A/NM_001129908.2/1;CC=c.1379A>G;ProtCh=p.Q460R;VC=Missense;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:91:54:0:0:41,49,1:1366,1520,9:0.00,148.42,-0.11:0.00,49.08,-0.10:0.00,99.34,-0.02:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:9.2,38.1,52.0:0,0,0:0,0,0:81,101,93:63,46,58:30,28,0:-,NM_001129908.2(FAM198A) c.1379A>G (p.Gln460Arg):-,0.6:-,0.559352 3 43095136 . G . . NT END=43096923;NT GT ./. 3 43095245 rs2280565 A G 68 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.6805,G/0.3195;Gene=FAM198A/NM_001129908.2/1;CC=c.1413+110A>G;VC=Intron;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:1:0:0:14,22:437,680:0.00,68.04:0.00,2.56:0.00,65.48:0.00,1.00:0.00,0.74:0.00,1.00:60,60:35.6,42.1:0,0:0,0:112,97:35,53:13,26:-,NM_001129908.2(FAM198A) c.1413+110A>G:-,0.3:-,NOT_FOUND 3 43097028 . G . . NT END=43097667;NT GT ./. 3 43097502 rs3732856 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5204,T/0.4796;Gene=FAM198A/NM_001129908.2/1;CC=c.1518-166C>T;VC=Intron;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:C,T:8:8:0:0:2,6:55,150:0.00,15.85:0.00,15.85:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.5,32.5:0,0:0,0:44,40:107,108:20,20:-,NM_001129908.2(FAM198A) c.1518-166C>T:-,0.48:-,NOT_FOUND 3 43097710 rs664628 A G 115 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.6106,G/0.3894;PC=0.508;Gene=FAM198A/NM_001129908.2/1;CC=c.1560A>G;ProtCh=p.L520=;VC=Silent;DM=FAM198A/FAM198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:89:77:0:0:53,36:1603,1240:0.00,115.13:0.00,82.49:0.00,32.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,36.1:0,0:0,0:58,50:82,100:29,34:-,NM_001129908.2(FAM198A) c.1560A>G (p.(=)):-,0.42:-,0.352825 3 43097879 . G . . NT END=43121180;NT GT ./. 3 43102235 rs4016145 G GGT 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=78;PC=0.034;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:G,GGT:4:2:3:0:1,3:13,90:0.00,9.48:0.00,3.07:0.00,6.40:0.00,0.85:0.00,0.95:0.00,0.95:60,60:58.0,29.3:0,0:0,0:83,75:68,75:0,3:-,chr3 g.43102235_43102236insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 43121559 rs604033 C T 198 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.2173,T/0.7827;Gene=POMGNT2/NM_032806.5/1;CC=c.1365G>A;ProtCh=p.P455=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:82:0:0:66,66:1965,2066:0.00,198.36:0.00,95.59:0.00,102.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,38.3:0,0:0,0:83,76:67,71:44,41:-,NM_032806.5(GTDC2) c.1365G>A (p.(=)):-,0.79:-,0.804321 3 43122924 . C . . NT END=43344695;NT GT ./. 3 43122966 rs2936818 G A 64 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.990;Gene=POMGNT2/NM_032806.5/1;CC=c.-43C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:53:24:0:0:21,32:690,1067:63.57,0.00:16.45,0.00:47.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,12.0:0,0:0,0:97,102:45,42:28,26:NM_032806.5(GTDC2) c.-43C>T,-:0.46,-:0.384972,- 3 43344432 rs9846341 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.01857,A/0.9814;PC=0.001;Gene=SNRK/NM_001100594.1/0;CC=c.-106-158G>A;VC=Intron;Gene=SNRK/NM_017719.4/1;CC=c.-106-158G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:183:21.16:21.16:0.00:1.00:1.00:0.00:60:54.8:0:0:47:102:32:NM_017719.4(SNRK) c.-106-158G>A,NM_017719.4(SNRK) c.-106-158G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 43345285 . G . . NT END=43373660;NT GT ./. 3 43373803 . G . . NT END=43381778;NT GT ./. 3 43381992 . G . . NT END=43384835;NT GT ./. 3 43384971 . G . . NT END=43388830;NT GT ./. 3 43385025 rs372669640 CT C 7 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=3;Gene=SNRK/NM_001100594.1/0;CC=c.1079+71delT;VC=Intron;Gene=SNRK/NM_017719.4/1;CC=c.1079+71delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:CT,I,C:35:15:3:4:29,3,3:873,84,132:0.00,5.52,7.00:0.00,-0.36,0.99:0.00,5.88,6.01:0.00,0.00,0.39:0.00,0.00,0.62:0.00,0.00,0.83:60,60,60:18.2,22.3,3.3:0,0,1:0,0,0:123,119,95:16,32,56:17,4,10:-,NM_017719.4(SNRK) c.1079+56delT:-,NOT_FOUND:-,NOT_FOUND 3 43390050 . C . . NT END=43408397;NT GT ./. 3 43408467 . C . . NT END=43414219;NT GT ./. 3 43414318 rs6441771 A G 175 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.01857,G/0.9814;Gene=ANO10/NM_001204831.1/0;CC=c.1819T>C;ProtCh=p.S607P;VC=Missense;Gene=ANO10/NM_001204832.1/0;CC=c.1717-5852T>C;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.1582-5852T>C;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.1345-5852T>C;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.1915-5852T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:A,G:48:35:0:0:1,47:10,1544:0.00,175.14:0.00,92.05:0.00,83.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:159.0,36.1:0,0:0,0:101,63:49,86:0,26:NM_018075.3(ANO10) c.1915-5852T>C,NM_018075.3(ANO10) c.1915-5852T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 43414340 . C . . NT END=43474102;NT GT ./. 3 43428140 rs56073271 C CGT 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;NP=2;NP=28;Gene=ANO10/NM_001204831.1/0;CC=c.1798-13802_1798-13801insAC;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.1717-19675_1717-19674insAC;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.1582-19675_1582-19674insAC;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.1345-19675_1345-19674insAC;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.1915-19675_1915-19674insAC;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T,CGT:4:1:2:0:1,1,2:25,20,68:0.00,1.75,6.85:0.00,-0.06,-0.15:0.00,1.81,7.00:0.00,0.00,0.51:0.00,0.00,0.67:0.00,0.00,0.51:60,60,60:23.0,178.0,5.0:0,0,0:0,0,0:97,79,75:54,71,75:0,0,15:-,NM_018075.3(ANO10) c.1915-19675_1915-19674insAC:-,NOT_FOUND:-,NOT_FOUND 3 43474220 . C . . NT END=43591211;NT GT ./. 3 43591142 rs12638282 G A 132 nt VT=SNV;PN=A;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.4579,A/0.5421;PC=0.006;Gene=ANO10/NM_001204831.1/0;CC=c.1797+70C>T;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.1599+70C>T;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.1464+70C>T;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.1227+70C>T;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.1797+70C>T;VC=Intron;DM=ANO10/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:36:0:0:36:1145:131.59:125.83:5.77:1.00:1.00:1.00:60:31.8:0:0:60:90:32:NM_018075.3(ANO10) c.1797+70C>T,NM_018075.3(ANO10) c.1797+70C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 3 43591341 . C . . NT END=43596769;NT GT ./. 3 43596962 . C . . NT END=43602711;NT GT ./. 3 43602803 rs3772165 C T 315 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=in-clinvar;PAF=C/0.3369,T/0.6631;PC=0.011;Gene=ANO10/NM_001204831.1/0;CC=c.1385G>A;ProtCh=p.R462Q;VC=Missense;Gene=ANO10/NM_001204832.1/0;CC=c.1187G>A;ProtCh=p.R396Q;VC=Missense;Gene=ANO10/NM_001204833.1/0;CC=c.1052G>A;ProtCh=p.R351Q;VC=Missense;Gene=ANO10/NM_001204834.1/0;CC=c.815G>A;ProtCh=p.R272Q;VC=Missense;Gene=ANO10/NM_018075.3/1;CC=c.1385G>A;ProtCh=p.R462Q;VC=Missense;DM=ANO10/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:81:60:0:0:81:2762:314.82:181.32:133.50:1.00:1.00:1.00:60:42.7:0:0:87:63:25:NM_018075.3(ANO10) c.1385G>A (p.Arg462Gln),NM_018075.3(ANO10) c.1385G>A (p.Arg462Gln):0.65,0.65:0.556897,0.556897 3 43602895 . C . . NT END=43607144;NT GT ./. 3 43607136 rs7616708 T C 186 nt VT=SNV;PN=T;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.3632,C/0.6368;Gene=ANO10/NM_001204831.1/0;CC=c.1293+9A>G;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.1095+9A>G;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.960+9A>G;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.723+9A>G;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.1293+9A>G;VC=Intron;DM=ANO10/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:44:0:0:51:1615:185.71:151.10:34.60:1.00:1.00:1.00:60:49.7:0:0:42:107:23:NM_018075.3(ANO10) c.1293+9A>G,NM_018075.3(ANO10) c.1293+9A>G:0.64,0.64:0.52679,0.52679 3 43607220 . C . . NT END=43616300;NT GT ./. 3 43607224 rs367784953 C CA 16 idl,rn VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;NP=2;PC=0.005;Gene=ANO10/NM_001204831.1/0;CC=c.1219-6dupT;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.1021-6dupT;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.886-6dupT;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.649-6dupT;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.1219-6dupT;VC=Intron;DM=ANO10/Anoctamin;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:A,C,CA,D:47:32:9:9:8,29,6,4:187,737,292,216:14.01,0.00,15.98,9.74:-1.27,0.00,13.62,5.98:15.29,0.00,2.36,3.76:0.00,0.00,0.84,0.00:0.00,0.00,0.93,0.00:0.00,0.00,0.91,0.00:60,60,60,60:74.5,56.3,70.7,33.8:3,1,3,3:0,0,0,0:62,109,98,74:65,35,52,71:16,20,21,12:-,NM_018075.3(ANO10) c.1219-6_1219-5insT:-,NOT_FOUND:-,NOT_FOUND 3 43607496 rs7616890 A G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1526,G/0.8474;NP=12;PC=0.064;Gene=ANO10/NM_001204831.1/0;CC=c.1219-277T>C;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.1021-277T>C;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.886-277T>C;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.649-277T>C;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.1219-277T>C;VC=Intron;DM=ANO10/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:138:15.71:0.00:15.71:1.00:0.00:1.00:60:34.5:0:0:105:45:18:NM_018075.3(ANO10) c.1219-277T>C,NM_018075.3(ANO10) c.1219-277T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 43616357 . C . . NT END=43618183;NT GT ./. 3 43618754 . C . . NT END=43621844;NT GT ./. 3 43618980 rs9883169 T G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1737,G/0.8263;Gene=ANO10/NM_001204831.1/0;CC=c.593-227A>C;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.395-227A>C;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.260-227A>C;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.593-2624A>C;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.593-227A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:126:14.50:0.00:14.50:1.00:0.00:1.00:60:73.8:0:0:113:38:10:NM_018075.3(ANO10) c.593-227A>C,NM_018075.3(ANO10) c.593-227A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 3 43618981 rs9863479 G C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1737,C/0.8263;Gene=ANO10/NM_001204831.1/0;CC=c.593-228C>G;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.395-228C>G;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.260-228C>G;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.593-2625C>G;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.593-228C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:73.8:0:0:114:37:10:NM_018075.3(ANO10) c.593-228C>G,NM_018075.3(ANO10) c.593-228C>G:0.8,0.8:NOT_FOUND,NOT_FOUND 3 43621965 . C . . NT END=43640023;NT GT ./. 3 43640159 . C . . NT END=43641875;NT GT ./. 3 43642074 . C . . NT END=43647205;NT GT ./. 3 43642126 rs6441785 C A 170 nt VT=SNV;PN=A;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.1743,A/0.8257;Gene=ANO10/NM_001204831.1/0;CC=c.140-53G>T;VC=Intron;Gene=ANO10/NM_001204832.1/0;CC=c.140-1968G>T;VC=Intron;Gene=ANO10/NM_001204833.1/0;CC=c.139+5080G>T;VC=Intron;Gene=ANO10/NM_001204834.1/0;CC=c.140-53G>T;VC=Intron;Gene=ANO10/NM_018075.3/1;CC=c.140-53G>T;VC=Intron;DM=ANO10/Anoctamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A:47:8:0:0:47:1472:169.51:20.38:149.13:1.00:1.00:1.00:60:38.3:0:0:103:48:27:NM_018075.3(ANO10) c.140-53G>T,NM_018075.3(ANO10) c.140-53G>T:0.81,0.81:NOT_FOUND,NOT_FOUND 3 43647345 . C . . NT END=43732484;NT GT ./. 3 43732371 rs74845403 A G 83 nt VT=SNV;PN=G;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.862,G/0.138 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:47:0:0:25,28:752,853:0.00,82.67:0.00,61.68:0.00,20.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.6,45.9:0,0:0,0:28,22:123,129:20,12:-,NM_016006.4(ABHD5) c.-110-u4A>G:-,0.1:-,NOT_FOUND 3 43732532 . G . . NT END=43740767;NT GT ./. 3 43740854 . G . . NT END=43743706;NT GT ./. 3 43744080 . G . . NT END=43753200;NT GT ./. 3 43753078 rs17075899 A G 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.8602,G/0.1398;Gene=ABHD5/NM_016006.4/1;CC=c.507-123A>G;VC=Intron;DM=ABHD5/Abhydrolase_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:24:0:0:13,11:384,383:0.00,36.38:0.00,34.51:0.00,1.87:0.00,1.00:0.00,1.00:0.00,0.64:60,60:26.6,36.4:0,0:0,0:72,35:76,109:33,26:-,NM_016006.4(ABHD5) c.507-123A>G:-,0.1:-,NOT_FOUND 3 43753356 . G . . NT END=43756438;NT GT ./. 3 43756551 . G . . NT END=43759162;NT GT ./. 3 43756577 rs10662733 C CTGTGTGTG 22 idl,nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.5761,CTG/0.4239;DB;DBA=NA;PAF=C/0.5761,CTG/0.4239,CTGTG/.,CTGTGTGTG/.;NP=15;NP=598;PC=0.001;Gene=ABHD5/NM_016006.4/1;CC=c.773+62_773+63insGTGTGTGT;VC=Intron;DM=ABHD5/Abhydrolase_6;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CTGTGTGTG:39:26:19:0:29,1,9:910,32,543:0.00,1.73,21.61:0.00,-0.10,6.42:0.00,1.83,15.19:0.00,0.00,0.98:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:27.9,32.0,37.2:1,0,10:0,0,0:102,2,51:41,146,91:23,0,16:-,NM_016006.4(ABHD5) c.773+27_773+28insTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 43756613 rs200186831 T G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=56;PC=0.072;Gene=ABHD5/NM_016006.4/1;CC=c.773+63T>G;VC=Intron;DM=ABHD5/Abhydrolase_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:G,T:43:10:0:1:5,38:165,1124:12.18,0.00:5.27,0.00:6.91,0.00:0.75,0.00:0.64,0.00:0.97,0.00:60,60:57.0,22.6:0,1:0,0:136,104:7,46:6,20:NM_016006.4(ABHD5) c.773+63T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 43759350 . G . . NT END=43759934;NT GT ./. 3 43760025 . A . . NT END=44283545;NT GT ./. 3 43760062 rs887472 T G 37 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.8966,G/0.1034;Gene=ABHD5/NM_016006.4/1;CC=c.*38T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:19:5:0:0:11,8:375,256:37.13,0.00:3.04,0.00:34.09,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:35.1,2.2:0,0:0,0:128,105:23,46:19,32:NM_016006.4(ABHD5) c.*38T>G,-:0.08,-:0.060895,- 3 44281349 rs59344463 AGT A 14 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=27;PC=0.002;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:AGT,A:6:3:0:5:2,4:70,170:0.00,13.90:0.00,3.50:0.00,10.40:0.00,0.90:0.00,0.93:0.00,0.90:60,60:91.5,27.5:0,1:0,0:76,59:36,83:33,9:-,NM_001145030.1(TOPAZ1) c.-168-u2028_-168-u2027delGT:-,NOT_FOUND:-,NOT_FOUND 3 44281353 rs199862781 T A 14 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=4;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,T:7:3:0:1:4,3:139,101:13.73,0.00:3.50,0.00:10.23,0.00:0.90,0.00:0.93,0.00:0.90,0.00:60,60:39.8,71.3:4,0:0,0:65,47:77,38:8,45:NM_001145030.1(TOPAZ1) c.-168-u2025T>A,-:NOT_FOUND,-:NOT_FOUND,- 3 44283525 rs9850927 A G 315 nt VT=SNV;PN=C;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.1558,G/0.8442;Gene=TOPAZ1/NM_001145030.1/1;CC=c.-21A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:92:78:0:0:92:2716:314.80:205.31:109.48:1.00:1.00:1.00:60:46.1:0:0:45:99:22:NM_001145030.1(TOPAZ1) c.-21A>G,NM_001145030.1(TOPAZ1) c.-21A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 44283672 rs9833423 T C 575 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=NA;Gene=TOPAZ1/NM_001145030.1/1;CC=c.127T>C;ProtCh=p.C43R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:161:122:0:0:1,160:11,5002:0.08,575.36:0.00,348.27:0.08,227.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:162.0,44.9:0,0:0,0:113,81:38,60:0,41:NM_001145030.1(TOPAZ1) c.127T>C (p.Cys43Arg),NM_001145030.1(TOPAZ1) c.127T>C (p.Cys43Arg):0.85,0.85:NOT_FOUND,NOT_FOUND 3 44283808 rs7645375 C A 743 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=195;DB;DBA=NA;PAF=C/0.1496,A/0.8504;Gene=TOPAZ1/NM_001145030.1/1;CC=c.263C>A;ProtCh=p.P88Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:195:139:0:0:193,1,1:6517,13,13:742.75,0.11,0.11:352.79,0.11,0.00:389.96,0.00,0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.1,94.0,13.0:0,0,0:0,0,0:74,65,6:73,86,145:34,0,0:NM_001145030.1(TOPAZ1) c.263C>A (p.Pro88Gln),NM_001145030.1(TOPAZ1) c.263C>A (p.Pro88Gln):0.85,0.85:0.822383,0.822383 3 44283892 . G . . NT END=44284344;NT GT ./. 3 44286764 . G . . NT END=44296459;NT GT ./. 3 44296522 . G . . NT END=44297642;NT GT ./. 3 44297164 rs113028154 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002;Gene=TOPAZ1/NM_001145030.1/1;CC=c.2828-479C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:3:0:0:1,3:35,95:0.00,9.95:0.00,4.38:0.00,5.58:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,86.0:0,0:0,0:71,45:40,105:0,31:-,NM_001145030.1(TOPAZ1) c.2828-479C>T:-,0.24:-,NOT_FOUND 3 44297771 . G . . NT END=44303910;NT GT ./. 3 44297948 rs7639827 A G 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.9024,G/0.09764;Gene=TOPAZ1/NM_001145030.1/1;CC=c.2955+178A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:A,G:13:0:0:0:5,8:129,260:0.00,26.09:0.00,0.00:0.00,26.09:0.00,1.00:0.00,0.00:0.00,1.00:60,60:60.4,39.0:0,0:0,0:116,83:34,68:28,19:-,NM_001145030.1(TOPAZ1) c.2955+178A>G:-,0.1:-,NOT_FOUND 3 44303976 . G . . NT END=44308488;NT GT ./. 3 44308629 . G . . NT END=44310707;NT GT ./. 3 44310592 rs5004668 T C 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1548,C/0.8452;PC=0.001;Gene=TOPAZ1/NM_001145030.1/1;CC=c.3161-116T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:268:31.04:31.04:0.00:1.00:1.00:0.00:60:40.7:0:0:80:70:25:NM_001145030.1(TOPAZ1) c.3161-116T>C,NM_001145030.1(TOPAZ1) c.3161-116T>C:0.85,0.85:NOT_FOUND,NOT_FOUND 3 44310794 . G . . NT END=44312176;NT GT ./. 3 44312303 . G . . NT END=44323459;NT GT ./. 3 44312447 rs11130024 T A 51 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.736,A/0.264;PC=0.122;Gene=TOPAZ1/NM_001145030.1/1;CC=c.3372+145T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:0:0:0:14:439:50.57:0.00:50.57:1.00:0.00:1.00:60:36.4:0:0:106:41:27:NM_001145030.1(TOPAZ1) c.3372+145T>A,NM_001145030.1(TOPAZ1) c.3372+145T>A:0.28,0.28:NOT_FOUND,NOT_FOUND 3 44323524 . G . . NT END=44328880;NT GT ./. 3 44329033 . G . . NT END=44329238;NT GT ./. 3 44329332 . G . . NT END=44332262;NT GT ./. 3 44332131 rs11927593 T A 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8748,A/0.1252;Gene=TOPAZ1/NM_001145030.1/1;CC=c.3682-132T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:23:0:0:15,8:463,254:47.00,0.00:47.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:69.3,37.9:0,0:0,0:31,40:120,109:19,10:NM_001145030.1(TOPAZ1) c.3682-132T>A,-:0.14,-:NOT_FOUND,- 3 44332176 rs1488637 T C 109 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.1448,C/0.8552;Gene=TOPAZ1/NM_001145030.1/1;CC=c.3682-87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C,T:30:30:0:0:29,1:966,9:108.88,0.00:108.88,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.2,87.0:0,0:0,0:60,76:91,75:26,0:NM_001145030.1(TOPAZ1) c.3682-87T>C,NM_001145030.1(TOPAZ1) c.3682-87T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 44332379 . G . . NT END=44345506;NT GT ./. 3 44345574 . G . . NT END=44346638;NT GT ./. 3 44345646 rs1488639 A T 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7336,T/0.2664;Gene=TOPAZ1/NM_001145030.1/1;CC=c.3864+73A>T;VC=Intron;DM=TOPAZ1/Asp_Glu_race_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:2:0:0:13:424:48.60:3.83:44.77:1.00:1.00:1.00:60:34.2:0:0:117:34:24:NM_001145030.1(TOPAZ1) c.3864+73A>T,NM_001145030.1(TOPAZ1) c.3864+73A>T:0.28,0.28:NOT_FOUND,NOT_FOUND 3 44346814 . G . . NT END=44347817;NT GT ./. 3 44347021 rs1488640 T C 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.003195,C/0.9968;NP=641;Gene=TOPAZ1/NM_001145030.1/1;CC=c.4039+208T>C;VC=Intron;DM=TOPAZ1/Asp_Glu_race_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:255:29.31:0.00:29.31:1.00:0.00:1.00:60:39.8:0:0:135:15:11:NM_001145030.1(TOPAZ1) c.4039+208T>C,NM_001145030.1(TOPAZ1) c.4039+208T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 44347660 rs11929217 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.8764,T/0.1236;PC=0.351;Gene=TOPAZ1/NM_001145030.1/1;CC=c.4040-158C>T;VC=Intron;DM=TOPAZ1/Asp_Glu_race_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,T:4:4:0:0:1,3:12,100:0.00,10.48:0.00,10.48:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,37.0:0,0:0,0:129,19:22,132:0,8:-,NM_001145030.1(TOPAZ1) c.4040-158C>T:-,0.14:-,NOT_FOUND 3 44347919 . G . . NT END=44351316;NT GT ./. 3 44351483 . G . . NT END=44362518;NT GT ./. 3 44356692 rs71741535 CGT C 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=134;PC=0.001;Gene=TOPAZ1/NM_001145030.1/1;CC=c.4306+5237_4306+5238delGT;VC=Intron;DM=TOPAZ1/Asp_Glu_race_2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:CGT,C:5:5:0:3:2,3:68,94:0.00,9.37:0.00,7.79:0.00,1.58:0.00,0.78:0.00,0.78:0.00,0.87:60,60:40.5,4.3:0,0:0,0:77,88:72,62:46,7:-,NM_001145030.1(TOPAZ1) c.4306+5211_4306+5212delGT:-,NOT_FOUND:-,NOT_FOUND 3 44362408 rs9857957 G A 39 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1436,A/0.8564;Gene=TOPAZ1/NM_001145030.1/1;CC=c.4307-111G>A;VC=Intron;DM=TOPAZ1/Asp_Glu_race_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:10:0:0:11:342:39.44:33.63:5.82:1.00:1.00:1.00:60:31.1:0:0:35:115:30:NM_001145030.1(TOPAZ1) c.4307-111G>A,NM_001145030.1(TOPAZ1) c.4307-111G>A:0.86,0.86:NOT_FOUND,NOT_FOUND 3 44362684 . G . . NT END=44364583;NT GT ./. 3 44364788 . G . . NT END=44369741;NT GT ./. 3 44364825 rs75579151 T C 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.9044,C/0.09565;PC=0.001;Gene=TOPAZ1/NM_001145030.1/1;CC=c.4675+38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:7:0:0:10,13:326,414:30.53,0.00:10.17,0.00:20.36,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:33.2,3.2:0,0:0,0:126,90:25,58:19,26:NM_001145030.1(TOPAZ1) c.4675+38T>C,-:0.1,-:NOT_FOUND,- 3 44369926 . G . . NT END=44373283;NT GT ./. 3 44373504 . C . . NT END=44396274;NT GT ./. 3 44373517 rs541485178 CT C 19 idl,rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=17;PC=0.002;Gene=TOPAZ1/NM_001145030.1/1;CC=c.*29delT;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:CT,I,C:49:20:5:8:36,5,8:1108,136,242:0.00,9.37,18.94:0.00,1.05,6.67:0.00,8.32,12.28:0.00,0.00,0.96:0.00,0.00,0.93:0.00,0.00,1.00:60,60,60:17.1,8.4,8.9:0,0,0:0,0,0:125,96,91:13,55,59:17,22,26:-,NM_001145030.1(TOPAZ1) c.*15T[14]:-,NOT_FOUND:-,NOT_FOUND 3 44396304 . G . . NT END=44399232;NT GT ./. 3 44399369 . G . . NT END=44399708;NT GT ./. 3 44399668 rs4682970 T C 69 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.1222,C/0.8778;Gene=TCAIM/NM_001029840.2/0;CC=c.166-41T>C;VC=Intron;Gene=TCAIM/NM_001282913.1/0;CC=c.165+300T>C;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.-192+300T>C;VC=Intron;Gene=TCAIM/NM_001029839.2/0;CC=c.166-41T>C;VC=Intron;Gene=TCAIM/NM_001282914.1/0;CC=c.-192+300T>C;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.165+300T>C;VC=Intron;DM=TCAIM/DUF4460 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:44:28:0:0:21,23:726,739:69.39,0.00:25.78,0.00:43.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:40.5,14.7:0,0:0,0:99,83:39,59:25,23:NM_173826.3(TCAIM) c.165+300T>C,-:0.88,-:0.831866,- 3 44399693 rs200460046 C CT 16 idl,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=3;PC=0.005;Gene=TCAIM/NM_001029840.2/0;CC=c.166-4dupT;VC=Intron;Gene=TCAIM/NM_001282913.1/0;CC=c.165+337dupT;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.-192+337dupT;VC=Intron;Gene=TCAIM/NM_001029839.2/0;CC=c.166-4dupT;VC=Intron;Gene=TCAIM/NM_001282914.1/0;CC=c.-192+337dupT;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.165+337dupT;VC=Intron;DM=TCAIM/DUF4460;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:C,CT,D:39:17:6:4:29,6,4:932,197,132:0.00,15.59,9.79:0.00,5.32,2.49:0.00,10.27,7.30:0.00,0.88,0.00:0.00,0.88,0.00:0.00,0.98,0.00:60,70,60:26.6,25.7,29.2:0,0,0:0,0,0:96,106,104:42,44,46:32,14,17:-,NM_173826.3(TCAIM) c.165+325_165+326insT:-,NOT_FOUND:-,NOT_FOUND 3 44399725 . G . . NT END=44400195;NT GT ./. 3 44400621 . t . . NT END=44402856;NT GT ./. 3 44400661 rs74897395 T C 27 nt VT=SNV;PN=T;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.9447,C/0.05531;PC=0.002;Gene=TCAIM/NM_001029840.2/0;CC=c.*905T>C;VC=3UTR;Gene=TCAIM/NM_001282913.1/0;CC=c.165+1293T>C;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.-192+1293T>C;VC=Intron;Gene=TCAIM/NM_001029839.2/0;CC=c.*905T>C;VC=3UTR;Gene=TCAIM/NM_001282914.1/0;CC=c.-192+1293T>C;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.165+1293T>C;VC=Intron;DM=TCAIM/DUF4460 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:2:0:0:11,13:288,450:26.76,0.00:-0.27,0.00:27.03,0.00:1.00,0.00:0.76,0.00:1.00,0.00:60,60:39.1,1.5:0,0:0,0:91,96:60,55:22,32:NM_173826.3(TCAIM) c.165+1293T>C,-:0.07,-:NOT_FOUND,- 3 44403011 . G . . NT END=44408947;NT GT ./. 3 44408864 rs75970869 G GT 49 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.09764,GT/0.9024;DB;DBA=NA;PAF=G/0.09764,GT/0.9024;DB;DBA=NA;PAF=G/0.09764,GT/0.9024;NP=3137;PC=0.730;Gene=TCAIM/NM_001282913.1/0;CC=c.320-81dupT;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.-37-157dupT;VC=Intron;Gene=TCAIM/NM_001282914.1/0;CC=c.-37-157dupT;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.320-81dupT;VC=Intron;DM=TCAIM/DUF4460;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:42:42:17:0:25,17:810,529:0.00,48.70:0.00,44.23:0.00,4.46:0.00,1.00:0.00,1.00:0.00,0.97:60,70:19.8,8.0:0,0:0,0:46,46:104,98:41,37:-,NM_173826.3(TCAIM) c.320-84_320-83insT:-,0.89:-,NOT_FOUND 3 44409201 . G . . NT END=44434346;NT GT ./. 3 44434311 rs11716955 G A 105 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.971,A/0.02895;Gene=TCAIM/NM_001282913.1/0;CC=c.573-36G>A;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.141-36G>A;VC=Intron;Gene=TCAIM/NM_001282914.1/0;CC=c.141-36G>A;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.573-36G>A;VC=Intron;DM=TCAIM/DUF4461 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:57:0:0:34,30:1077,948:104.73,0.00:78.94,0.00:25.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,6.5:0,0:0,0:43,46:106,100:26,20:NM_173826.3(TCAIM) c.573-36G>A,-:0.04,-:0.071924,- 3 44434470 . G . . NT END=44437891;NT GT ./. 3 44434674 rs73090454 G T 12 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8774,T/0.1226;PC=0.001;Gene=TCAIM/NM_001282913.1/0;CC=c.695+205G>T;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.263+205G>T;VC=Intron;Gene=TCAIM/NM_001282914.1/0;CC=c.263+205G>T;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.695+205G>T;VC=Intron;DM=TCAIM/DUF4461 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:G,T:11:0:0:0:7,4:215,133:0.00,12.08:0.00,0.00:0.00,12.08:0.00,0.82:0.00,0.00:0.00,0.82:60,60:22.1,66.2:0,0:0,0:129,105:22,44:14,30:-,NM_173826.3(TCAIM) c.695+205G>T:-,0.14:-,NOT_FOUND 3 44434675 rs73090455 C T 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8774,T/0.1226;PC=0.003;Gene=TCAIM/NM_001282913.1/0;CC=c.695+206C>T;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.263+206C>T;VC=Intron;Gene=TCAIM/NM_001282914.1/0;CC=c.263+206C>T;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.695+206C>T;VC=Intron;DM=TCAIM/DUF4461 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:C,T:11:0:0:0:7,4:240,132:0.00,11.98:0.00,0.00:0.00,11.98:0.00,0.82:0.00,0.00:0.00,0.82:60,60:22.1,66.2:0,0:0,0:130,106:21,43:14,30:-,NM_173826.3(TCAIM) c.695+206C>T:-,0.14:-,NOT_FOUND 3 44437870 rs6441838 A C 416 nt VT=SNV;PN=G;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=A/0.03474,C/0.9653,T/.;Gene=TCAIM/NM_001282913.1/0;CC=c.696-22A>C;VC=Intron;Gene=TCAIM/NM_001282915.1/0;CC=c.264-22A>C;VC=Intron;Gene=TCAIM/NM_001282914.1/0;CC=c.264-22A>C;VC=Intron;Gene=TCAIM/NM_173826.3/1;CC=c.696-22A>C;VC=Intron;DM=TCAIM/DUF4461 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:109:91:0:0:109:3640:415.74:269.76:145.98:1.00:1.00:1.00:60:38.0:0:0:53:93:30:NM_173826.3(TCAIM) c.696-22A>C,NM_173826.3(TCAIM) c.696-22A>C:0.97,0.97:0.964632,0.964632 3 44437990 . G . . NT END=44438234;NT GT ./. 3 44438327 . G . . NT END=44441846;NT GT ./. 3 44442080 . G . . NT END=44442694;NT GT ./. 3 44442827 . G . . NT END=44448933;NT GT ./. 3 44449175 . C . . NT END=44488066;NT GT ./. 3 44490232 . C . . NT END=44491004;NT GT ./. 3 44491116 . C . . NT END=44491938;NT GT ./. 3 44492066 . C . . NT END=44492359;NT GT ./. 3 44492455 . C . . NT END=44492805;NT GT ./. 3 44492975 . C . . NT END=44496612;NT GT ./. 3 44497042 . C . . NT END=44540675;NT GT ./. 3 44514945 rs568277220 T TCACACA 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.9683,A/0.03175;NP=1;NP=1;NP=9;Gene=ZNF445/NM_181489.5/1;CC=c.-269+4137_-269+4138insTGTGTG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:T,TCACACA:5:4:4:0:1,4:33,133:0.00,14.12:0.00,4.92:0.00,9.20:0.00,0.96:0.00,1.00:0.00,1.00:60,60:4.0,40.5:0,0:0,0:49,56:100,94:0,9:-,NM_181489.5(ZNF445) c.-269+4137_-269+4138insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 44514984 rs6441847 A C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.235,C/0.765;PC=0.002;Gene=ZNF445/NM_181489.5/1;CC=c.-269+4099T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:18:A,C:8:6:0:0:1,7:33,231:0.00,25.13:0.00,13.67:0.00,11.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,45.6:0,0:0,0:28,85:123,53:0,44:-,NM_181489.5(ZNF445) c.-269+4099T>G:-,NOT_FOUND:-,NOT_FOUND 3 44540791 rs554288350 TTC T 637 PASS VT=DEL;SST=Single;DP=189;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3455;PC=0.998;Gene=ZNF852/NM_001287349.1/1;CC=c.1475+1_1476-1delGA;VC=SpliceSiteDelCDS;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:TTC,T:189:148:0:179:10,179:293,5689:0.00,637.42:0.00,406.11:0.00,231.31:0.00,1.00:0.00,1.00:0.00,1.00:60,70:13.6,7.5:0,0:0,0:142,66:5,79:1,41:XM_001717544.2(ZNF852) c.1475A[4] (p.Lys493Asnfs*51),XM_001717544.2(ZNF852) c.1475A[4] (p.Lys493Asnfs*51):1,1:NOT_FOUND,NOT_FOUND 3 44542130 . C . . NT END=44544033;NT GT ./. 3 44544161 . C . . NT END=44544456;NT GT ./. 3 44544472 . C . . NT END=44598539;NT GT ./. 3 44552294 rs6781791 T C 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.13,C/0.87 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:172:19.58:9.79:9.79:1.00:1.00:1.00:60:61.0:0:0:61:71:13:XM_001717544.2(ZNF852) c.-165-u162A>G,XM_001717544.2(ZNF852) c.-165-u162A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 44552343 rs67253985 A C 15 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8329,C/0.1671 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:132:15.11:1.99:13.12:1.00:1.00:1.00:60:65.8:0:0:102:48:7:XM_001717544.2(ZNF852) c.-165-u211T>G,XM_001717544.2(ZNF852) c.-165-u211T>G:0.19,0.19:NOT_FOUND,NOT_FOUND 3 44598963 . G . . NT END=44606978;NT GT ./. 3 44607013 rs13081859 T C 167 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.8219,C/0.1781;PC=0.113;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.458T>C;ProtCh=p.F153S;VC=Missense;Gene=ZKSCAN7/NM_018651.3/0;CC=c.458T>C;ProtCh=p.F153S;VC=Missense;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.458T>C;ProtCh=p.F153S;VC=Missense;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.8T>C;ProtCh=p.F3S;VC=Missense;Gene=ZKSCAN7/NM_025169.2/0;CC=c.458T>C;ProtCh=p.F153S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:103:75:0:0:54,49:1724,1508:167.17,0.00:85.85,0.00:81.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.0,8.8:0,0:0,0:78,57:57,92:39,35:NM_018651.2(ZNF167) c.458T>C (p.Phe153Ser),-:0.2,-:0.313471,- 3 44607148 . G . . NT END=44609403;NT GT ./. 3 44609496 . G . . NT END=44609798;NT GT ./. 3 44609626 rs6765468 G A 84 nt VT=SNV;PN=T;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.7802,A/0.2198;PC=0.014;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.684+131G>A;VC=Intron;Gene=ZKSCAN7/NM_018651.3/0;CC=c.684+131G>A;VC=Intron;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.684+131G>A;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.234+131G>A;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.684+131G>A;VC=Intron;DM=ZKSCAN7/SCAN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:66:29:0:0:29,37:895,1140:83.63,0.00:39.93,0.00:43.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,5.5:0,0:0,0:54,96:97,55:35,37:NM_018651.2(ZNF167) c.684+131G>A,-:0.24,-:NOT_FOUND,- 3 44609926 . G . . NT END=44611413;NT GT ./. 3 44610008 rs114528092 A G 99 nt VT=SNV;PN=T;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.9856,G/0.01438;PC=0.021;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.811+83A>G;VC=Intron;Gene=ZKSCAN7/NM_018651.3/0;CC=c.811+83A>G;VC=Intron;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.811+83A>G;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.361+83A>G;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.811+83A>G;VC=Intron;DM=ZKSCAN7/SCAN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:17:0:0:27,31:810,1020:0.00,99.37:0.00,18.82:0.00,80.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,38.7:0,0:0,0:96,102:55,48:21,21:-,NM_018651.2(ZNF167) c.811+83A>G:-,0.02:-,NOT_FOUND 3 44611233 rs11718098 C A 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.8219,A/0.1781;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.812-181C>A;VC=Intron;Gene=ZKSCAN7/NM_018651.3/0;CC=c.812-181C>A;VC=Intron;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.811+1308C>A;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.362-184C>A;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.811+1308C>A;VC=Intron;DM=ZKSCAN7/SCAN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:31:31:0:0:18,13:553,408:54.68,0.00:54.87,0.00:-0.19,0.00:1.00,0.00:1.00,0.00:0.72,0.00:60,60:40.4,0.8:0,0:0,0:31,38:119,113:26,27:NM_018651.2(ZNF167) c.812-181C>A,-:0.2,-:NOT_FOUND,- 3 44611896 rs9835485 A G 291 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=224;DB;DBA=NA;PAF=A/0.78,G/0.22;PC=0.109;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.1294A>G;ProtCh=p.T432A;VC=Missense;Gene=ZKSCAN7/NM_018651.3/0;CC=c.1294A>G;ProtCh=p.T432A;VC=Missense;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.811+1971A>G;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.841A>G;ProtCh=p.T281A;VC=Missense;Gene=ZKSCAN7/NM_025169.2/0;CC=c.811+1971A>G;VC=Intron;DM=ZKSCAN7/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:224:134:0:0:128,96:3907,3120:0.00,291.31:0.00,120.00:0.00,171.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,40.6:0,0:0,0:84,87:64,57:30,32:-,NM_018651.2(ZNF167) c.1294A>G (p.Thr432Ala):-,0.24:-,0.350869 3 44612050 rs9873604 C T 264 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=183;DB;DBA=NA;PAF=C/0.2478,G/.,T/0.7522;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.1448C>T;ProtCh=p.T483I;VC=Missense;Gene=ZKSCAN7/NM_018651.3/0;CC=c.1448C>T;ProtCh=p.T483I;VC=Missense;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.811+2125C>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.995C>T;ProtCh=p.T332I;VC=Missense;Gene=ZKSCAN7/NM_025169.2/0;CC=c.811+2125C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:183:111:0:0:97,86:3175,2780:0.00,264.11:0.00,149.27:0.00,114.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,43.8:0,0:0,0:69,62:79,86:41,38:-,NM_018651.2(ZNF167) c.1448C>T (p.Thr483Ile):-,0.76:-,0.704521 3 44612895 rs2034476 C G 237 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=166;DB;DBA=NA;PAF=C/0.7784,G/0.2216,T/.;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.*28C>G;VC=3UTR;Gene=ZKSCAN7/NM_018651.3/0;CC=c.*28C>G;VC=3UTR;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.811+2970C>G;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1102+738C>G;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.811+2970C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:166:95:0:0:2,86,78:22,2572,2486:-0.15,0.00,236.59:-0.23,0.00,116.42:0.08,0.00,120.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:39.5,8.9,46.4:0,0,0:0,0,0:102,84,78:48,66,70:0,33,41:-,NM_018651.2(ZNF167) c.*28C>G:-,0.24:-,0.352738 3 44613014 rs2034475 G T 186 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=133;DB;DBA=NA;PAF=G/0.8219,T/0.1781;Gene=ZKSCAN7/NM_001288590.1/0;CC=c.*147G>T;VC=3UTR;Gene=ZKSCAN7/NM_018651.3/0;CC=c.*147G>T;VC=3UTR;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.811+3089G>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1102+857G>T;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.811+3089G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:133:78:0:0:1,67,65:10,2228,1949:-0.15,0.00,185.98:-0.02,0.00,92.72:-0.13,0.00,93.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:94.0,10.6,50.0:0,0,0:0,0,0:93,77,93:58,73,58:0,35,35:-,NM_018651.2(ZNF167) c.*147G>T:-,0.2:-,NOT_FOUND 3 44613651 . G . . NT END=44635685;NT GT ./. 3 44613838 rs71092317 TTGTGTG T 23 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=28;PC=0.426;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.811+3951_811+3956delGTGTGT;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1102+1719_1102+1724delGTGTGT;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.811+3951_811+3956delGTGTGT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:G,TTGTGTG,T:14:2:0:11:1,5,8:12,142,331:0.42,0.00,23.32:0.54,0.00,-0.14:-0.12,0.00,23.46:0.00,0.00,0.99:0.00,0.00,0.77:0.00,0.00,1.00:60,60,60:100.0,16.0,20.9:0,0,3:0,0,0:124,127,70:27,24,80:0,12,22:-,NM_025169.1(ZNF167) c.811+3914_811+3919delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 44619134 rs4682747 G C 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1178,C/0.8822;PC=0.997;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-5330G>C;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-5330G>C;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-5330G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:177:20.08:20.08:0.00:1.00:1.00:0.00:42:44.4:0:0:52:99:41:NM_173658.2(ZNF660) c.-333-u7322G>C,NM_173658.2(ZNF660) c.-333-u7322G>C:0.88,0.88:NOT_FOUND,NOT_FOUND 3 44619630 rs6770567 A G 80 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.7802,G/0.2198;PC=0.989;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-4834A>G;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-4834A>G;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-4834A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:29:0:0:20,24:649,813:0.00,79.56:0.00,40.05:0.00,39.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,38.0:0,0:0,0:79,59:71,76:37,30:-,NM_173658.2(ZNF660) c.-333-u6826A>G:-,0.24:-,NOT_FOUND 3 44619893 rs7650486 C T 156 nt VT=SNV;PN=G;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.9125,T/0.08746;PC=0.966;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-4571C>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-4571C>T;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-4571C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:99:68:0:0:48,51:1494,1609:0.00,155.57:0.00,84.47:0.00,71.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,44.1:0,0:0,0:83,81:67,68:34,31:-,NM_173658.2(ZNF660) c.-333-u6563C>T:-,0.11:-,NOT_FOUND 3 44620008 rs7627777 G A 135 nt VT=SNV;PN=C;NN=C;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.9135,A/0.08646;PC=1.000;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-4456G>A;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-4456G>A;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-4456G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:96:63:0:0:45,51:1424,1543:135.14,0.00:71.62,0.00:63.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.6,8.3:0,0:0,0:91,74:60,70:35,35:NM_173658.2(ZNF660) c.-333-u6448G>A,-:0.11,-:NOT_FOUND,- 3 44620719 rs7653558 C T 162 nt VT=SNV;PN=G;NN=C;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.7794,T/0.2206;PC=0.020;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-3745C>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-3745C>T;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-3745C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:108:75:0:0:54,54:1706,1686:0.00,161.86:0.00,87.23:0.00,74.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,38.1:0,0:0,0:59,59:87,84:29,39:-,NM_173658.2(ZNF660) c.-333-u5737C>T:-,0.24:-,NOT_FOUND 3 44620855 rs111593586 C T 159 nt VT=SNV;PN=T;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=C/0.894,T/0.106;PC=1.000;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-3609C>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-3609C>T;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-3609C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:110:63:0:0:57,53:1865,1673:0.00,159.48:0.00,73.22:0.00,86.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,36.8:0,0:0,0:71,71:80,72:42,42:-,NM_173658.2(ZNF660) c.-333-u5601C>T:-,0.13:-,NOT_FOUND 3 44620941 rs11707572 C T 171 nt VT=SNV;PN=G;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=C/0.8395,T/0.1605;PC=1.000;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-3523C>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-3523C>T;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-3523C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:95:59:0:0:39,56:1375,1722:0.00,170.87:0.00,73.15:0.00,97.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.5,41.0:0,0:0,0:71,78:80,72:37,37:-,NM_173658.2(ZNF660) c.-333-u5515C>T:-,0.19:-,NOT_FOUND 3 44621139 rs4682748 G A 417 nt VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=3469;PC=1.000;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-3325G>A;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-3325G>A;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-3325G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:109:70:0:0:109:3649:416.80:198.62:218.17:1.00:1.00:1.00:60:43.4:0:0:70:80:32:NM_173658.2(ZNF660) c.-333-u5317G>A,NM_173658.2(ZNF660) c.-333-u5317G>A:1,1:NOT_FOUND,NOT_FOUND 3 44621285 rs6785876 G A 104 nt VT=SNV;PN=G;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.7802,A/0.2198;PC=1.000;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-3179G>A;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-3179G>A;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-3179G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:79:43:0:0:36,1,42:1103,9,1355:104.06,-0.14,0.00:36.27,-0.11,0.00:67.79,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.2,223.0,9.4:0,0,0:0,0,0:72,108,84:76,43,61:26,0,41:NM_173658.2(ZNF660) c.-333-u5171G>A,-:0.24,-:NOT_FOUND,- 3 44621326 rs6777333 T C 83 nt VT=SNV;PN=C;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.7802,C/0.2198;PC=0.990;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-3138T>C;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-3138T>C;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-3138T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:69:39:0:0:31,38:892,1258:83.26,0.00:31.25,0.00:52.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.5,8.0:0,0:0,0:100,88:49,63:24,46:NM_173658.2(ZNF660) c.-333-u5130T>C,-:0.24,-:NOT_FOUND,- 3 44621494 rs6779941 T C 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.7812,C/0.2188;PC=0.988;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-2970T>C;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-2970T>C;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-2970T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:42:26:0:0:17,25:495,813:45.23,0.00:26.97,0.00:18.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.2,22.7:0,0:0,0:69,80:82,71:44,33:NM_173658.2(ZNF660) c.-333-u4962T>C,-:0.24,-:NOT_FOUND,- 3 44621980 rs377684988 C G 166 nt VT=SNV;PN=G;NN=T;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.8496,G/0.1504;DB;DBA=NA;PAF=NA;PC=0.995;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-2484C>G;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-2484C>G;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-2484C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:112:75:0:0:1,56,55:10,1882,1734:-0.13,0.00,166.17:-0.05,0.00,74.13:-0.08,0.00,92.04:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:96.0,13.9,40.0:0,0,0:0,0,0:55,82,70:95,68,69:0,33,32:-,NM_173658.2(ZNF660) c.-333-u4476C>G:-,0.18:-,NOT_FOUND 3 44622115 rs113958788 T C 185 nt VT=SNV;PN=C;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.9411,C/0.05891;PC=1.000;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-2349T>C;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-2349T>C;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-2349T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:113:69:0:0:1,58,54:8,1913,1704:-0.16,185.29,0.00:-0.10,75.65,0.00:-0.05,109.64,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:54.0,41.0,15.5:0,0,0:0,0,0:62,59,69:89,88,64:0,37,38:NM_173658.2(ZNF660) c.-333-u4341T>C,-:0.08,-:NOT_FOUND,- 3 44622369 rs72860788 G C 174 nt VT=SNV;PN=G;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.7674,C/0.2326;PC=0.001;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-2095G>C;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-2095G>C;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-2095G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:94:70:0:0:53,41:1771,1280:174.43,0.00:118.82,0.00:55.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,6.0:0,0:0,0:56,69:94,82:35,30:NM_173658.2(ZNF660) c.-333-u4087G>C,-:0.25,-:NOT_FOUND,- 3 44622701 rs74549838 C T 102 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.8201,T/0.1799;PC=0.006;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-1763C>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-1763C>T;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-1763C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,T:34:6:0:0:4,30:123,930:0.00,101.90:0.00,11.21:0.00,90.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,45.7:0,0:0,0:126,113:24,37:13,25:-,NM_173658.2(ZNF660) c.-333-u3755C>T:-,0.22:-,NOT_FOUND 3 44622734 rs140503691 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.9137,T/0.08626;PC=0.008;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-1730C>T;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-1730C>T;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-1730C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:A,C,T:27:2:0:0:1,23,3:12,660,92:0.04,0.00,6.60:-0.02,0.00,-0.08:0.07,0.00,6.67:0.00,0.00,0.44:0.00,0.00,0.34:0.00,0.00,0.88:60,60,60:206.0,34.1,37.0:0,0,0:0,0,0:137,120,67:13,31,84:0,28,48:-,NM_173658.2(ZNF660) c.-333-u3722C>T:-,0.13:-,NOT_FOUND 3 44624399 rs63508960 CGTGT C 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=2;PC=0.004;Gene=ZKSCAN7/NM_001288591.1/0;CC=c.812-29_812-26delTGTG;VC=Intron;Gene=ZKSCAN7/NM_001288592.1/1;CC=c.1103-29_1103-26delTGTG;VC=Intron;Gene=ZKSCAN7/NM_025169.2/0;CC=c.812-29_812-26delTGTG;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CGTGT,C:5:6:0:4:2,3:70,127:0.00,9.43:0.00,6.45:0.00,2.97:0.00,0.73:0.00,0.73:0.00,0.51:60,60:0.0,7.0:0,1:0,0:130,51:21,98:4,10:-,NM_173658.2(ZNF660) c.-333-u2056_-333-u2053delGTGT:-,NOT_FOUND:-,NOT_FOUND 3 44636682 . A . . NT END=44670646;NT GT ./. 3 44671037 . G . . NT END=44672553;NT GT ./. 3 44671217 rs6769283 G T 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8375,T/0.1625;PC=0.019;Gene=ZNF197/NM_006991.3/0;CC=c.390+181G>T;VC=Intron;Gene=ZNF197/NM_001024855.1/1;CC=c.390+181G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:16:1:0:0:7,9:220,274:0.00,26.92:0.00,3.53:0.00,23.40:0.00,1.00:0.00,0.71:0.00,1.00:60,60:17.1,53.0:0,0:0,0:110,115:41,36:16,34:-,NM_006991.3(ZNF197) c.390+181G>T:-,0.18:-,NOT_FOUND 3 44671230 rs6769288 G A 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8259,A/0.1741;Gene=ZNF197/NM_006991.3/0;CC=c.390+194G>A;VC=Intron;Gene=ZNF197/NM_001024855.1/1;CC=c.390+194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:12:1:0:0:6,6:203,202:19.55,0.00:3.68,0.00:15.87,0.00:0.98,0.00:0.67,0.00:1.00,0.00:60,60:64.3,16.3:0,0:0,0:88,116:63,34:35,17:NM_006991.3(ZNF197) c.390+194G>A,-:0.2,-:NOT_FOUND,- 3 44672714 . G . . NT END=44673596;NT GT ./. 3 44672900 rs186466071 T C 31 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.9862,C/0.01378;PC=0.002;Gene=ZNF197/NM_006991.3/0;CC=c.550+187T>C;VC=Intron;Gene=ZNF197/NM_001024855.1/1;CC=c.550+187T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:147:C,T:14:0:0:0:9,5:311,152:31.43,0.00:0.00,0.00:31.43,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:50.3,17.8:0,2:0,0:81,71:67,80:29,33:NM_006991.3(ZNF197) c.550+187T>C,-:0.02,-:NOT_FOUND,- 3 44673430 rs28699350 G C 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8191,C/0.1809;Gene=ZNF197/NM_006991.3/0;CC=c.551-167G>C;VC=Intron;Gene=ZNF197/NM_001024855.1/1;CC=c.551-167G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:86:C,G:12:11:0:0:9,3:295,99:30.86,0.00:28.71,0.00:2.15,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:54.1,6.3:0,0:0,0:42,27:108,121:38,11:NM_006991.3(ZNF197) c.551-167G>C,-:0.2,-:NOT_FOUND,- 3 44673689 . G . . NT END=44673964;NT GT ./. 3 44674092 . G . . NT END=44683391;NT GT ./. 3 44685871 . c . . NT END=44686122;NT GT ./. 3 44686005 rs113245127 C T 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8952,T/0.1048;PC=0.001;Gene=ZNF197/NM_006991.3/0;CC=c.*293C>T;VC=3UTR;Gene=ZNF197/NM_001024855.1/1;CC=c.770-1978C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:33:21:0:0:15,18:496,595:0.00,58.20:0.00,30.26:0.00,27.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:45.4,42.0:0,0:0,0:63,75:88,75:35,34:-,NM_006991.3(ZNF197) c.*293C>T:-,0.13:-,NOT_FOUND 3 44686006 rs9865272 G T 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8145,T/0.1855;PC=0.001;Gene=ZNF197/NM_006991.3/0;CC=c.*294G>T;VC=3UTR;Gene=ZNF197/NM_001024855.1/1;CC=c.770-1977G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:33:21:0:0:18,15:591,501:0.00,47.38:0.00,35.75:0.00,11.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,45.4:0,0:0,0:76,64:74,87:34,35:-,NM_006991.3(ZNF197) c.*294G>T:-,0.21:-,NOT_FOUND 3 44687300 rs1402752 G A 441 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=G/0.1466,A/0.8534;Gene=ZNF197/NM_001024855.1/1;CC=c.770-683G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:122:75:0:0:122:3829:440.87:226.73:214.14:1.00:1.00:1.00:60:39.5:0:0:60:88:30:NM_003420.3(ZNF35) c.-221-u2933G>A,NM_003420.3(ZNF35) c.-221-u2933G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 3 44688018 . a . . NT END=44692559;NT GT ./. 3 44692752 . G . . NT END=44694048;NT GT ./. 3 44694194 . G . . NT END=44700192;NT GT ./. 3 44694506 rs6441863 G A 14 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.146,A/0.854;PC=0.001;Gene=ZNF35/NM_003420.3/1;CC=c.337+313G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:122:14.11:0.00:14.11:1.00:0.00:1.00:60:30.5:0:0:138:12:10:NM_003420.3(ZNF35) c.337+313G>A,NM_003420.3(ZNF35) c.337+313G>A:0.88,0.88:NOT_FOUND,NOT_FOUND 3 44701440 . C . . NT END=44761753;NT GT ./. 3 44701738 rs1402753 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8403,G/0.1597;Gene=ZNF35/NM_003420.3/1;CC=c.*299A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:A,G:6:0:0:0:3,3:90,103:0.00,9.93:0.00,0.00:0.00,9.93:0.00,0.73:0.00,0.00:0.00,0.73:60,60:40.3,46.3:0,0:0,0:103,110:48,41:45,4:-,NM_003420.3(ZNF35) c.*299A>G:-,0.18:-,NOT_FOUND 3 44761809 . G . . NT END=44762364;NT GT ./. 3 44762112 rs6441866 T C 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.00599,C/0.994;NP=552;Gene=ZNF502/NM_001134440.1/0;CC=c.56-253T>C;VC=Intron;Gene=ZNF502/NM_001134441.1/0;CC=c.56-253T>C;VC=Intron;Gene=ZNF502/NM_001134442.1/0;CC=c.56-253T>C;VC=Intron;Gene=ZNF502/NM_001282880.1/1;CC=c.56-253T>C;VC=Intron;Gene=ZNF502/NM_033210.4/0;CC=c.56-253T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:7:0:0:13:409:47.08:25.64:21.44:1.00:1.00:1.00:60:51.2:0:0:59:92:43:NM_033210.4(ZNF502) c.56-253T>C,NM_033210.4(ZNF502) c.56-253T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 44762830 rs56084453 A G 151 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.894,G/0.106;PC=0.049;Gene=ZNF502/NM_001134440.1/0;CC=c.521A>G;ProtCh=p.Q174R;VC=Missense;Gene=ZNF502/NM_001134441.1/0;CC=c.521A>G;ProtCh=p.Q174R;VC=Missense;Gene=ZNF502/NM_001134442.1/0;CC=c.521A>G;ProtCh=p.Q174R;VC=Missense;Gene=ZNF502/NM_001282880.1/1;CC=c.521A>G;ProtCh=p.Q174R;VC=Missense;Gene=ZNF502/NM_033210.4/0;CC=c.521A>G;ProtCh=p.Q174R;VC=Missense;DM=ZNF502/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:107:73:0:0:55,52:1794,1586:0.00,151.17:0.00,86.32:0.00,64.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.2,38.5:0,0:0,0:65,58:85,91:37,33:-,NM_033210.4(ZNF502) c.521A>G (p.Gln174Arg):-,0.13:-,0.157773 3 44763037 rs7640654 A C 204 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=125;DB;DBA=NA;PAF=A/0.4615,C/0.5385,T/.;PC=0.005;Gene=ZNF502/NM_001134440.1/0;CC=c.728A>C;ProtCh=p.E243A;VC=Missense;Gene=ZNF502/NM_001134441.1/0;CC=c.728A>C;ProtCh=p.E243A;VC=Missense;Gene=ZNF502/NM_001134442.1/0;CC=c.728A>C;ProtCh=p.E243A;VC=Missense;Gene=ZNF502/NM_001282880.1/1;CC=c.728A>C;ProtCh=p.E243A;VC=Missense;Gene=ZNF502/NM_033210.4/0;CC=c.728A>C;ProtCh=p.E243A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:125:74:0:0:59,65,1:1909,2101,9:0.00,203.76,-0.14:0.00,82.82,-0.04:0.00,120.94,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:12.2,47.2,65.0:0,0,0:0,0,0:93,71,69:55,77,81:38,36,0:-,NM_033210.4(ZNF502) c.728A>C (p.Glu243Ala):-,0.55:-,0.411349 3 44763945 . T . . NT END=44775913;NT GT ./. 3 44775962 rs4682752 A G 122 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=95;DB;DBA=NA;PAF=A/0.3047,C/.,G/0.6953;PC=0.001;Gene=ZNF501/NM_001258280.1/1;CC=c.49A>G;ProtCh=p.M17V;VC=Missense;Gene=ZNF501/NM_145044.3/0;CC=c.49A>G;ProtCh=p.M17V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:95:80:0:0:52,43:1719,1304:0.00,122.46:0.00,90.19:0.00,32.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,32.0:0,0:0,0:79,65:60,84:34,46:-,NM_001258280.1(ZNF501) c.49A>G (p.Met17Val):-,0.69:-,0.581109 3 44776730 . A . . NT END=44794832;NT GT ./. 3 44795100 . C . . NT END=44795715;NT GT ./. 3 44795861 . C . . NT END=44802986;NT GT ./. 3 44796049 rs3749199 G C 14 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2869,C/0.7131;Gene=KIAA1143/NM_020696.3/1;CC=c.109-189C>G;VC=Intron;DM=KIAA1143/DUF4604 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,G:8:0:0:0:5,3:139,63:13.99,0.00:0.00,0.00:13.99,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:53.0,9.0:0,0:0,0:68,75:83,75:35,3:NM_020696.3(KIAA1143) c.109-189C>G,-:0.7,-:NOT_FOUND,- 3 44802823 rs1876223 G A 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2869,A/0.7131;Gene=KIAA1143/NM_020696.3/1;CC=c.108+164C>T;VC=Intron;DM=KIAA1143/DUF4604 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:216,208:20.89,0.00:20.89,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:39.2,16.6:0,0:0,0:74,35:76,116:40,23:NM_020696.3(KIAA1143) c.108+164C>T,-:0.7,-:NOT_FOUND,- 3 44803095 . G . . NT END=44803357;NT GT ./. 3 44803108 rs56236286 AAAGACAG A 94 nt VT=DEL;SST=Single;DP=91;DB;DBA=NA;PAF=AAAGACAG/0.2879,A/0.7121;DB;DBA=NA;PAF=AAAGACAG/0.2879,A/0.7121;DB;DBA=NA;PAF=AAAGACAG/0.2879,A/0.7121;NP=1934;PC=0.007;Gene=KIAA1143/NM_020696.3/1;CC=c.-21_-15delCTGTCTT;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAGACAG,A:91:58:0:33:58,33:1791,1040:0.00,93.89:0.00,44.77:0.00,49.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,6.3:0,0:0,0:98,59:40,87:27,27:-,NM_020696.3(KIAA1143) c.-28CTGTCTT[1]:-,0.7:-,0.548029 3 44803377 . G . . NT END=44815886;NT GT ./. 3 44815930 . G . . NT END=44816745;NT GT ./. 3 44816930 . G . . NT END=44819606;NT GT ./. 3 44816952 rs553547998 CTT C 45 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=943;PC=0.054;Gene=KIF15/NM_020242.2/1;CC=c.246+36_246+37delTT;VC=Intron;DM=KIF15/Kinesin;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,I,C:43:19:2:20:25,2,16:807,66,592:0.00,4.35,45.16:0.00,2.29,7.09:0.00,2.06,38.07:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:15.0,5.0,17.3:0,0,3:0,0,0:123,96,73:27,53,78:13,5,25:-,NM_020242.2(KIF15) c.246+24_246+25delTT:-,NOT_FOUND:-,NOT_FOUND 3 44819684 . G . . NT END=44822376;NT GT ./. 3 44822415 . G . . NT END=44826336;NT GT ./. 3 44826188 rs55852922 A G 17 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4637,G/0.5363;PC=0.001;Gene=KIF15/NM_020242.2/1;CC=c.362-149A>G;VC=Intron;DM=KIF15/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:7:7:0:0:2,5:65,160:0.00,16.57:0.00,16.57:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:62.0,36.8:0,0:0,0:60,64:89,87:37,9:-,NM_020242.2(KIF15) c.362-149A>G:-,0.54:-,NOT_FOUND 3 44826315 rs56895721 G GT 29 idl,rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1443;NP=2;PC=0.021;Gene=KIF15/NM_020242.2/1;CC=c.362-12dupT;VC=Intron;DM=KIF15/Kinesin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:25:23:13:0:15,10:494,415:0.00,29.42:0.00,17.31:0.00,12.11:0.00,1.00:0.00,1.00:0.00,0.99:60,60:19.5,15.8:0,3:0,0:28,41:123,104:22,28:-,NM_020242.2(KIF15) c.362-22_362-21insT:-,NOT_FOUND:-,NOT_FOUND 3 44826435 . G . . NT END=44827886;NT GT ./. 3 44827676 rs7650535 G C 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.2927,C/0.7073;PC=0.001;Gene=KIF15/NM_020242.2/1;CC=c.460-211G>C;VC=Intron;DM=KIF15/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:141:C,G:9:9:0:0:5,4:154,139:15.10,0.00:15.10,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:73.2,0.0:0,0:0,0:24,36:127,114:23,3:NM_020242.2(KIF15) c.460-211G>C,-:0.69,-:NOT_FOUND,- 3 44827691 rs9823416 G C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4547,C/0.5453;PC=0.009;Gene=KIF15/NM_020242.2/1;CC=c.460-196G>C;VC=Intron;DM=KIF15/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:C,G:9:9:0:0:5,4:153,141:14.99,0.00:14.99,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:73.4,0.0:0,0:0,0:19,47:132,103:11,4:NM_020242.2(KIF15) c.460-196G>C,-:0.55,-:NOT_FOUND,- 3 44827793 rs7642843 T C 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.3057,C/0.6943;Gene=KIF15/NM_020242.2/1;CC=c.460-94T>C;VC=Intron;DM=KIF15/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:27:0:0:17,12:514,379:50.92,0.00:47.75,0.00:3.17,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:48.5,17.2:0,0:0,0:48,52:103,98:36,34:NM_020242.2(KIF15) c.460-94T>C,-:0.68,-:NOT_FOUND,- 3 44828067 . G . . NT END=44835708;NT GT ./. 3 44835498 rs1965379 G A 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.2925,A/0.7075;PC=0.001;Gene=KIF15/NM_020242.2/1;CC=c.640-211G>A;VC=Intron;DM=KIF15/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,G:6:6:0:0:5,1:155,28:16.71,0.00:16.71,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:70.0,0.0:0,0:0,0:12,3:139,148:12,0:NM_020242.2(KIF15) c.640-211G>A,-:0.69,-:NOT_FOUND,- 3 44835573 rs1463950 A G 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3013,G/0.6987;PC=0.002;Gene=KIF15/NM_020242.2/1;CC=c.640-136A>G;VC=Intron;DM=KIF15/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:19:0:0:7,12:219,425:0.00,42.80:0.00,42.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:6.3,59.4:0,0:0,0:18,59:132,91:17,21:-,NM_020242.2(KIF15) c.640-136A>G:-,0.69:-,NOT_FOUND 3 44835919 . G . . NT END=44839042;NT GT ./. 3 44839169 . G . . NT END=44839325;NT GT ./. 3 44839449 . G . . NT END=44841805;NT GT ./. 3 44841930 . G . . NT END=44842941;NT GT ./. 3 44843019 . G . . NT END=44843256;NT GT ./. 3 44843467 . G . . NT END=44844305;NT GT ./. 3 44844484 . G . . NT END=44846518;NT GT ./. 3 44846477 . GA G 9 idl,rn VT=DEL;SST=Single;DP=49;NP=30;PC=0.001;Gene=KIF15/NM_020242.2/1;CC=c.1688-27delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,GA,I,G:49:41:3:5:3,39,3,4:30,1227,101,131:0.17,0.00,6.83,9.22:-0.86,0.00,5.75,8.20:1.03,0.00,1.08,1.02:0.00,0.00,0.00,0.56:0.00,0.00,0.00,0.90:0.00,0.00,0.00,0.62:60,60,60,60:37.0,16.4,0.0,2.2:0,0,0,0:0,0,0,0:31,70,74,52:117,81,74,98:11,44,33,25:-,NM_020242.2(KIF15) c.1688-41delA:-,NOT_FOUND:-,NOT_FOUND 3 44846661 . G . . NT END=44847336;NT GT ./. 3 44847479 . G . . NT END=44852337;NT GT ./. 3 44852536 . G . . NT END=44853673;NT GT ./. 3 44853782 . G . . NT END=44854566;NT GT ./. 3 44854563 rs3762636 A G 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4591,G/0.5409;PC=0.500;Gene=KIF15/NM_020242.2/1;CC=c.2278-4A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:35:0:0:28,18:905,517:0.00,46.85:0.00,34.39:0.00,12.46:0.00,1.00:0.00,1.00:0.00,1.00:70,60:5.4,33.2:0,0:0,0:42,48:106,94:30,17:-,NM_020242.2(KIF15) c.2278-4A>G:-,0.55:-,0.405966 3 44854673 . G . . NT END=44856402;NT GT ./. 3 44856569 . G . . NT END=44867530;NT GT ./. 3 44867682 . G . . NT END=44867866;NT GT ./. 3 44867953 . G . . NT END=44868950;NT GT ./. 3 44868018 rs200584693 G GT 10 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=16;Gene=KIF15/NM_020242.2/1;CC=c.2786+76dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:G,GT,D:31:4:4:2:25,4,2:797,133,53:0.00,10.16,3.16:0.00,1.33,-0.06:0.00,8.83,3.22:0.00,0.64,0.00:0.00,0.43,0.00:0.00,0.95,0.00:60,60,60:10.3,0.0,16.0:0,0,0:0,0,0:112,64,82:38,86,68:30,25,10:-,NM_020242.2(KIF15) c.2786+66_2786+67insT:-,0.04:-,NOT_FOUND 3 44869021 . G . . NT END=44869705;NT GT ./. 3 44869026 rs4682999 A T 102 nt VT=SNV;PN=A;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.002396,T/0.9976;NP=3467;Gene=KIF15/NM_020242.2/1;CC=c.2856+6A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:11:0:0:28:889:102.22:28.81:73.41:1.00:1.00:1.00:60:39.5:0:0:76:68:20:NM_020242.2(KIF15) c.2856+6A>T,NM_020242.2(KIF15) c.2856+6A>T:1,1:0.995002,0.995002 3 44869793 . G . . NT END=44871462;NT GT ./. 3 44871505 rs11710339 A T 78 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.9369,T/0.0631;PC=0.498;Gene=KIF15/NM_020242.2/1;CC=c.2986A>T;ProtCh=p.T996S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:44:35:0:0:19,25:628,790:0.00,77.84:0.00,45.76:0.00,32.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,35.2:0,0:0,0:69,58:78,60:22,36:-,NM_020242.2(KIF15) c.2986A>T (p.Thr996Ser):-,0.09:-,0.15316 3 44871568 . G . . NT END=44872387;NT GT ./. 3 44872511 . G . . NT END=44879766;NT GT ./. 3 44879914 . G . . NT END=44881846;NT GT ./. 3 44881949 . G . . NT END=44882565;NT GT ./. 3 44882318 rs11926748 G A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2786,A/0.7214;PC=0.001;Gene=KIF15/NM_020242.2/1;CC=c.3421-248G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,G:8:7:0:0:5,3:133,93:13.37,0.00:11.81,0.00:1.55,0.00:0.97,0.00:1.00,0.00:0.75,0.00:60,60:53.0,0.0:0,0:0,0:20,106:130,44:15,13:NM_020242.2(KIF15) c.3421-248G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 44882327 rs34487315 AT A 12 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AT/0.2788,A/0.7212;NP=68;Gene=KIF15/NM_020242.2/1;CC=c.3421-230delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:AT,A:7:7:0:4:3,4:98,117:0.00,11.53:0.00,11.53:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:0.0,64.2:0,0:0,0:115,16:35,135:13,7:-,NM_020242.2(KIF15) c.3421-238delT:-,0.7:-,NOT_FOUND 3 44882336 rs55887024 T C 13 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.4726,C/0.5274;NP=94;PC=0.003;Gene=KIF15/NM_020242.2/1;CC=c.3421-230T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:7:7:0:0:4,3:131,96:12.93,0.00:12.93,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:64.2,0.0:0,0:0,0:24,124:127,26:7,13:NM_020242.2(KIF15) c.3421-230T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 44882731 . G . . NT END=44884616;NT GT ./. 3 44882784 rs6766221 C T 62 nt VT=SNV;PN=T;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.4603,T/0.5397;Gene=KIF15/NM_020242.2/1;CC=c.3585+54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:12:0:0:15,19:426,627:0.00,61.69:0.00,12.77:0.00,48.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.5,38.9:0,0:0,0:103,81:48,70:34,36:-,NM_020242.2(KIF15) c.3585+54C>T:-,0.55:-,NOT_FOUND 3 44884647 rs3804583 C A 62 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.4722,A/0.5278;PC=0.802;Gene=KIF15/NM_020242.2/1;CC=c.3616C>A;ProtCh=p.L1206M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:60:44:0:0:21,39:693,1251:62.46,0.00:38.02,0.00:24.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.3,7.6:0,0:0,0:63,57:72,93:42,30:NM_020242.2(KIF15) c.3616C>A (p.Leu1206Met),-:0.54,-:0.39205,- 3 44884727 . G . . NT END=44889476;NT GT ./. 3 44889550 . G . . NT END=44890012;NT GT ./. 3 44890051 . G . . NT END=44893278;NT GT ./. 3 44893445 . G . . NT END=44893699;NT GT ./. 3 44893832 . G . . NT END=44894164;NT GT ./. 3 44893953 rs375038429 TA T 7 rn VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=6;Gene=KIF15/NM_020242.2/1;CC=c.4104+137delA;VC=Intron;DM=KIF15/HMMR_C;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:A,TA,I,T:21:4:1:3:1,16,1,3:10,480,33,90:0.01,0.00,2.12,6.83:-0.06,0.00,-0.06,2.73:0.08,0.00,2.18,4.10:0.00,0.00,0.00,0.49:0.00,0.00,0.00,0.47:0.00,0.00,0.00,0.86:60,60,60,60:52.0,23.6,0.0,9.7:0,0,0,0:0,0,0,0:29,120,78,25:122,30,73,125:0,22,0,21:-,NM_020242.2(KIF15) c.4104+123delA:-,NOT_FOUND:-,NOT_FOUND 3 44894228 . G . . NT END=44903416;NT GT ./. 3 44903609 . G . . NT END=44905688;NT GT ./. 3 44903703 . T G 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;PC=0.009;Gene=TMEM42/NM_144638.2/1;CC=c.192+95T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:73:G,T:16:4:0:0:4,12:91,357:7.11,0.00:-0.50,0.00:7.60,0.00:0.75,0.00:0.69,0.00:0.59,0.00:60,60:80.5,95.1:0,0:0,0:21,138:123,10:5,5:NM_144638.1(TMEM42) c.192+95T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 44903719 . T G 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;Gene=TMEM42/NM_144638.2/1;CC=c.192+111T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:G,T:10:2:0:0:4,6:87,108:7.69,0.00:-0.44,0.00:8.13,0.00:0.99,0.00:0.70,0.00:0.97,0.00:60,60:79.8,17.7:0,1:0,0:37,104:107,30:4,44:NM_144638.1(TMEM42) c.192+111T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 44905836 . G . . NT END=44906531;NT GT ./. 3 44906673 . C . . NT END=44916170;NT GT ./. 3 44906746 rs10429 A G 91 nt VT=SNV;PN=T;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.1747,G/0.8253;Gene=TMEM42/NM_144638.2/1;CC=c.*74A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:9:0:0:20,27:640,917:0.00,90.67:0.00,8.46:0.00,82.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.3,37.0:0,0:0,0:113,92:37,57:16,28:-,NM_144638.1(TMEM42) c.=:-,0.8:-,NOT_FOUND 3 44914968 rs57000741 G A 133 nt VT=SNV;PN=T;NN=C;SST=Single;DP=104;DB;DBA=NA;PAF=G/0.8385,A/0.1615;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:104:87:0:0:47,57:1413,1923:132.55,0.00:100.06,0.00:32.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,5.7:0,0:0,0:52,68:94,81:31,33:NM_003241.3(TGM4) c.-73-u1130G>A,-:0.18,-:NOT_FOUND,- 3 44915250 rs11715636 G C 93 nt VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=G/0.9607,C/0.03934;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:53:23:0:0:29,24:948,751:92.75,0.00:31.37,0.00:61.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,13.5:0,0:0,0:87,82:63,68:40,29:NM_003241.3(TGM4) c.-73-u848G>C,-:0.06,-:NOT_FOUND,- 3 44915434 rs9880645 T A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.8345,A/0.1655 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:20:1:0:0:7,13:207,416:18.42,0.00:-0.09,0.00:18.52,0.00:0.97,0.00:0.57,0.00:0.97,0.00:60,60:33.9,4.2:0,0:0,0:133,87:18,63:14,39:NM_003241.3(TGM4) c.-73-u664T>A,-:0.19,-:NOT_FOUND,- 3 44916190 . G . . NT END=44926816;NT GT ./. 3 44926991 . G . . NT END=44929180;NT GT ./. 3 44929288 . G . . NT END=44932094;NT GT ./. 3 44932225 . G . . NT END=44935068;NT GT ./. 3 44935188 . G . . NT END=44938200;NT GT ./. 3 44938309 . G . . NT END=44943015;NT GT ./. 3 44938492 rs562323009 C GTT 9 idl,rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.5703,T/0.4297;NP=3;PC=0.954;Gene=TGM4/NM_003241.3/1;CC=c.657+183_657+184insGT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,T,GTT,D:7:0:4:3:2,1,3,1:37,12,122,65:0.00,0.67,9.05,2.62:0.00,0.00,0.00,0.00:0.00,0.67,9.05,2.62:0.00,0.00,0.64,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.64,0.00:60,59,70,60:48.0,82.0,57.7,0.0:0,0,1,1:0,0,0,0:42,20,97,99:107,120,53,51:8,0,23,22:-,NM_003241.3(TGM4) c.657+184delCinsGTT:-,NOT_FOUND:-,NOT_FOUND 3 44938586 rs6765789 A C 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.001997,C/0.998;NP=48;PC=0.001;Gene=TGM4/NM_003241.3/1;CC=c.657+278A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:109:12.76:0.00:12.76:1.00:0.00:1.00:60:55.2:0:0:121:24:9:NM_003241.3(TGM4) c.657+278A>C,NM_003241.3(TGM4) c.657+278A>C:1,1:NOT_FOUND,NOT_FOUND 3 44943191 . G . . NT END=44943284;NT GT ./. 3 44943424 . G . . NT END=44945375;NT GT ./. 3 44945480 . G . . NT END=44948440;NT GT ./. 3 44948693 . G . . NT END=44951581;NT GT ./. 3 44948777 . C A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=44;PC=0.040;Gene=TGM4/NM_003241.3/1;CC=c.1327+85C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:A,C:44:12:0:0:8,36:149,1156:9.74,0.00:-0.87,0.00:10.61,0.00:0.97,0.00:0.86,0.00:1.00,0.00:70,60:133.8,17.6:0,0:0,0:66,136:52,14:22,7:NM_003241.3(TGM4) c.1327+85C>A,-:NOT_FOUND,-:NOT_FOUND,- 3 44951861 . G . . NT END=44952449;NT GT ./. 3 44952620 . G . . NT END=44952761;NT GT ./. 3 44952899 . G . . NT END=44955075;NT GT ./. 3 44955218 . C . . NT END=44959386;NT GT ./. 3 44959725 rs60782286 CG C 344 idl,rn VT=DEL;SST=Single;DP=140;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=14;Gene=ZDHHC3/NM_001135179.1/0;CC=c.*8455delC;VC=3UTR;Gene=ZDHHC3/NM_016598.2/1;CC=c.*8455delC;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CG,G,C:137:93:0:115:29,1,107:908,33,3337:0.00,1.54,344.11:0.00,-0.05,197.85:0.00,1.60,146.26:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:25.0,260.0,31.8:1,1,3:0,0,0:126,124,73:17,27,74:17,0,31:-,NM_016598.2(ZDHHC3) c.*8445C[10]:-,NOT_FOUND:-,NOT_FOUND 3 44960637 . a . . NT END=44961324;NT GT ./. 3 44963109 . g . . NT END=44963315;NT GT ./. 3 44963242 . T C 74 nt VT=SNV;PN=G;NN=C;SST=Single;DP=59;PC=0.003;Gene=ZDHHC3/NM_001135179.1/0;CC=c.*4939A>G;VC=3UTR;Gene=ZDHHC3/NM_016598.2/1;CC=c.*4939A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:59:34:0:0:24,1,34:793,9,1062:73.66,-0.13,0.00:45.93,-0.01,0.00:27.74,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.6,189.0,6.4:0,0,0:0,0,0:69,48,58:81,102,91:31,0,37:NM_016598.2(ZDHHC3) c.*4939A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 44964573 rs114181298 G GT 30 idl,rn VT=INS;SST=Single;DP=108;DB;DBA=NA;PAF=G/0.3558,GT/0.6442;DB;DBA=NA;PAF=NA;Gene=ZDHHC3/NM_001135179.1/0;CC=c.*3607_*3608insA;VC=3UTR;Gene=ZDHHC3/NM_016598.2/1;CC=c.*3607_*3608insA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT,D:104:34:17:7:83,1,14,6:2658,10,508,213:0.00,-0.23,30.28,11.30:0.00,0.03,3.39,0.88:0.00,-0.26,26.89,10.42:0.00,0.00,1.00,0.00:0.00,0.00,0.97,0.00:0.00,0.00,1.00,0.00:60,60,60,60:12.7,51.0,24.4,34.3:0,0,3,1:0,0,0,0:111,135,90,86:33,13,61,64:26,0,29,25:-,NM_016598.2(ZDHHC3) c.*3607dupA:-,NOT_FOUND:-,NOT_FOUND 3 44964591 . g . . NT END=44964831;NT GT ./. 3 44965033 . c . . NT END=44965283;NT GT ./. 3 44965765 rs115908188 C T 213 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.9932,T/0.006789;Gene=ZDHHC3/NM_001135179.1/0;CC=c.*2416G>A;VC=3UTR;Gene=ZDHHC3/NM_016598.2/1;CC=c.*2416G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:146:75:0:0:72,1,73:2332,11,2224:0.00,-0.13,213.46:0.00,0.01,82.22:0.00,-0.14,131.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.9,11.0,40.5:0,0,0:0,0,0:91,131,70:58,20,79:35,0,35:-,NM_016598.2(ZDHHC3) c.*2416G>A:-,0.01:-,NOT_FOUND 3 44968340 . C . . NT END=44970797;NT GT ./. 3 44970929 . C . . NT END=44974398;NT GT ./. 3 44974273 rs571553647 AAAAC A 23 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=AAAAC/0.9559,A/0.04413;DB;DBA=NA;PAF=AAAAC/0.9559,A/0.04413;NP=686;Gene=ZDHHC3/NM_001135179.1/0;CC=c.610+333_610+336delGTTT;VC=Intron;Gene=ZDHHC3/NM_016598.2/1;CC=c.694+122_694+125delGTTT;VC=Intron;DM=ZDHHC3/zf-DHHC;DM=ZDHHC3/zf-DHHC;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAAAC,A:24:24:0:8:16,8:515,262:0.00,23.39:0.00,23.39:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.2,9.5:0,0:0,0:49,41:101,109:30,20:-,NM_016598.2(ZDHHC3) c.694+122_694+125delGTTT:-,0.07:-,NOT_FOUND 3 44974483 . C . . NT END=44974609;NT GT ./. 3 44974692 . C . . NT END=44975379;NT GT ./. 3 44975477 . C . . NT END=44986659;NT GT ./. 3 44986785 . C . . NT END=45000079;NT GT ./. 3 45000172 . A . . NT END=45000622;NT GT ./. 3 45000929 . A . . NT END=45017769;NT GT ./. 3 45017697 . T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=67;PC=0.030 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,C,G,T:67:62:0:0:3,1,10,53:37,20,173,1204:0.45,0.39,10.32,0.00:0.51,0.41,5.43,0.00:-0.07,-0.02,4.89,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.68,0.00:60,60,60,60:57.3,20.0,58.3,16.1:0,0,0,0:0,0,0,0:60,86,50,46:78,65,89,101:51,0,30,31:NM_015004.3(EXOSC7) c.-29-u44T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 45017827 . G . . NT END=45030631;NT GT ./. 3 45017904 rs6441873 A T 90 nt VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.4109,T/0.5891;Gene=EXOSC7/NM_015004.3/1;CC=c.57+78A>T;VC=Intron;Gene=EXOSC7/NR_023353.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:56:9:0:0:28,28:947,931:0.00,89.60:0.00,13.95:0.00,75.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,73.9:0,0:0,0:117,101:33,49:18,25:-,NM_015004.3(EXOSC7) c.57+78A>T:-,0.56:-,NOT_FOUND 3 45017905 rs6441874 G T 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.4107,T/0.5893;PC=0.001;Gene=EXOSC7/NM_015004.3/1;CC=c.57+79G>T;VC=Intron;Gene=EXOSC7/NR_023353.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:56:9:0:0:28,28:933,921:0.00,88.60:0.00,13.85:0.00,74.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,73.9:0,0:0,0:118,101:32,49:18,26:-,NM_015004.3(EXOSC7) c.57+79G>T:-,0.56:-,NOT_FOUND 3 45030734 . G . . NT END=45031041;NT GT ./. 3 45031137 . G . . NT END=45038578;NT GT ./. 3 45038745 . G . . NT END=45043029;NT GT ./. 3 45043101 . G . . NT END=45046782;NT GT ./. 3 45046907 . G . . NT END=45048911;NT GT ./. 3 45047112 rs13314063 T C 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.03814,C/0.9619;Gene=EXOSC7/NM_015004.3/1;CC=c.615+206T>C;VC=Intron;Gene=EXOSC7/NR_023353.1/0;VC=NonCoding;DM=EXOSC7/RNase_PH_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:0:11:321:37.34:0.00:37.34:1.00:0.00:1.00:60:33.1:0:0:97:54:50:NM_015004.3(EXOSC7) c.615+206T>C,NM_015004.3(EXOSC7) c.615+206T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 45049068 . G . . NT END=45052726;NT GT ./. 3 45049186 rs11130040 A G 39 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.2796,G/0.7204;Gene=EXOSC7/NM_015004.3/1;CC=c.771+119A>G;VC=Intron;Gene=EXOSC7/NR_023353.1/0;VC=NonCoding;DM=EXOSC7/RNase_PH_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:2:0:0:11,12:321,402:0.00,39.04:0.00,2.83:0.00,36.21:0.00,1.00:0.00,0.81:0.00,1.00:60,60:18.6,37.8:0,0:0,0:102,100:43,50:20,28:-,NM_015004.3(EXOSC7) c.771+119A>G:-,0.68:-,NOT_FOUND 3 45052775 rs6794 G C 148 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.2941,C/0.7059;PC=0.422;Gene=EXOSC7/NM_015004.3/1;CC=c.820G>C;ProtCh=p.V274L;VC=Missense;Gene=EXOSC7/NR_023353.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:99:63:0:0:47,51,1:1552,1670,10:148.11,0.00,-0.12:71.48,0.00,-0.10:76.63,0.00,-0.02:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.5,3.4,103.0:0,0,0:0,0,0:80,85,80:68,64,71:36,26,0:NM_015004.3(EXOSC7) c.820G>C (p.Val274Leu),-:0.67,-:0.568968,- 3 45052832 . T . . NT END=45067854;NT GT ./. 3 45067751 rs116440682 G A 59 nt VT=SNV;PN=G;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.993,A/0.006989;PC=0.935 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:187:A,C,G:25:24:0:0:17,1,7:570,10,208:58.80,0.19,0.00:59.30,0.20,0.00:-0.49,-0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.79,0.00,0.00:60,60,60:44.2,185.0,13.3:0,0,0:0,0,0:45,108,43:106,35,108:20,0,17:NM_003278.2(CLEC3B) c.-96-u8G>A,-:0.01,-:NOT_FOUND,- 3 45067964 . G . . NT END=45071626;NT GT ./. 3 45068074 rs2301282 A G 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.3934,G/0.6066;PC=0.002;Gene=CLEC3B/NM_003278.2/0;CC=c.109+111A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:0:0:0:9,11:299,327:0.00,31.93:0.00,0.00:0.00,31.93:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.9,40.8:0,0:0,0:103,106:48,45:21,18:-,NM_003278.2(CLEC3B) c.109+111A>G:-,0.58:-,NOT_FOUND 3 45071406 rs6792742 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.3926,T/0.6074;Gene=CLEC3B/NM_003278.2/0;CC=c.110-913C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:C,T:10:10:0:0:7,3:224,81:0.00,6.87:0.00,6.87:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:25.6,45.0:0,0:0,0:82,78:69,73:36,27:-,NM_003278.2(CLEC3B) c.110-913C>T:-,0.58:-,NOT_FOUND 3 45071538 rs6805138 A G 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.03375,G/0.9663;Gene=CLEC3B/NM_003278.2/0;CC=c.110-781A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:430:50.57:46.69:3.88:1.00:1.00:1.00:60:45.9:0:0:70:80:47:NM_003278.2(CLEC3B) c.110-781A>G,NM_003278.2(CLEC3B) c.110-781A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 45071730 . g . . NT END=45072318;NT GT ./. 3 45072418 . G . . NT END=45077015;NT GT ./. 3 45072535 rs2139538 G A 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3932,A/0.6068;PC=0.010;Gene=CLEC3B/NM_003278.2/0;CC=c.208+118G>A;VC=Intron;Gene=CLEC3B/NM_001308394.1/1;CC=c.82+118G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:A,G:17:0:0:0:12,5:419,162:43.15,0.00:0.00,0.00:43.15,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:46.8,0.0:0,0:0,0:115,93:35,57:21,48:NM_003278.2(CLEC3B) c.208+118G>A,-:0.58,-:NOT_FOUND,- 3 45072583 rs939309 T C 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.2788,C/0.7212;Gene=CLEC3B/NM_003278.2/0;CC=c.208+166T>C;VC=Intron;Gene=CLEC3B/NM_001308394.1/1;CC=c.82+166T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:C,T:11:0:0:0:6,5:158,172:15.37,0.00:0.00,0.00:15.37,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:57.5,0.0:0,0:0,0:137,63:14,86:9,44:NM_003278.2(CLEC3B) c.208+166T>C,-:0.68,-:NOT_FOUND,- 3 45077123 rs13963 G A 290 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=200;DB;DBA=NA;PAF=G/0.4365,A/0.5635;PC=1.000;Gene=CLEC3B/NM_003278.2/0;CC=c.316G>A;ProtCh=p.G106S;VC=Missense;Gene=CLEC3B/NM_001308394.1/1;CC=c.190G>A;ProtCh=p.G64S;VC=Missense;DM=CLEC3B/Lectin_C;DM=CLEC3B/Lectin_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:200:150:0:0:95,1,104:3041,5,3215:289.57,-0.21,0.00:177.64,-0.13,0.00:111.93,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.0,37.0,12.5:0,0,0:0,0,0:64,96,66:83,52,73:36,0,37:NM_003278.2(CLEC3B) c.316G>A (p.Gly106Ser),-:0.54,-:0.3992,- 3 45077417 . c . . NT END=45127129;NT GT ./. 3 45077458 rs8318 G A 105 nt VT=SNV;PN=G;NN=G;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.4062,A/0.5938;PC=0.120;Gene=CLEC3B/NM_003278.2/0;CC=c.*42G>A;VC=3UTR;Gene=CLEC3B/NM_001308394.1/1;CC=c.*42G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:100:28:0:0:45,55:1140,1648:105.40,0.00:25.53,0.00:79.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.3,25.7:0,0:0,0:108,102:43,45:23,26:NM_003278.2(CLEC3B) c.*42G>A,-:0.57,-:0.381978,- 3 45127515 rs9874077 T C 305 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=84;DB;DBA=NA;PAF=T/0.07069,C/0.9293;PC=0.541;Gene=CDCP1/NM_022842.4/1;CC=c.2126A>G;ProtCh=p.D709G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:84:43:0:0:1,83:13,2663:0.22,305.20:0.00,115.73:0.22,189.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,39.9:0,0:0,0:2,87:148,55:0,36:NM_022842.3(CDCP1) c.2126A>G (p.Asp709Gly),NM_022842.3(CDCP1) c.2126A>G (p.Asp709Gly):0.94,0.94:0.927572,0.927572 3 45127560 . C . . NT END=45130545;NT GT ./. 3 45130634 . C . . NT END=45132664;NT GT ./. 3 45130679 rs79885994 G T 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.9543,T/0.04573;Gene=CDCP1/NM_022842.4/1;CC=c.1994-46C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:40:20:0:0:18,22:603,717:0.00,70.24:0.00,17.19:0.00,53.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,55.3:0,0:0,0:95,115:54,33:33,14:-,NM_022842.3(CDCP1) c.1994-46C>A:-,0.05:-,0.074581 3 45130725 rs7618923 C T 36 nt VT=SNV;PN=T;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.8442,T/0.1558;PC=0.007;Gene=CDCP1/NM_022842.4/1;CC=c.1994-92G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:6:0:0:16,12:519,384:0.00,35.83:0.00,2.85:0.00,32.98:0.00,1.00:0.00,0.95:0.00,1.00:60,60:10.5,73.8:0,0:0,0:98,105:52,45:35,33:-,NM_022842.3(CDCP1) c.1994-92G>A:-,0.16:-,NOT_FOUND 3 45132577 rs6791801 A T 42 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.6629,T/0.3371;Gene=CDCP1/NM_022842.4/1;CC=c.1993+88T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:32:31:0:0:16,16:479,439:0.00,41.82:0.00,38.59:0.00,3.23:0.00,1.00:0.00,1.00:0.00,0.89:60,60:21.0,71.9:0,0:0,0:28,59:119,90:21,25:-,NM_022842.3(CDCP1) c.1993+88T>A:-,0.33:-,NOT_FOUND 3 45132637 rs1879240 T C 74 nt VT=SNV;PN=C;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.7025,C/0.2975;Gene=CDCP1/NM_022842.4/1;CC=c.1993+28A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:52:0:0:26,35:798,1136:74.13,0.00:54.02,0.00:20.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.7,18.8:0,0:0,0:38,39:96,91:34,33:NM_022842.3(CDCP1) c.1993+28A>G,-:0.29,-:0.329872,- 3 45133031 . C . . NT END=45134768;NT GT ./. 3 45134822 rs3749191 T C 183 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=T/0.268,C/0.732;Gene=CDCP1/NM_022842.4/1;CC=c.1574A>G;ProtCh=p.Q525R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:128:104:0:0:61,1,66:1924,12,2182:183.25,-0.10,0.00:130.87,-0.01,0.00:52.37,-0.09,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.4,108.0,4.7:0,0,0:0,0,0:65,127,54:68,20,95:38,0,31:NM_022842.3(CDCP1) c.1574A>G (p.Gln525Arg),-:0.72,-:0.615946,- 3 45135150 . C . . NT END=45136838;NT GT ./. 3 45137061 . C . . NT END=45151707;NT GT ./. 3 45137087 rs2037358 T G 70 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=T/0.492,G/0.508;PC=0.002;Gene=CDCP1/NM_022842.4/1;CC=c.1025-27A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:58:19:0:0:1,24,33:11,752,1086:-0.05,69.79,0.00:-0.04,20.29,0.00:-0.01,49.51,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:20.0,38.4,4.2:0,0,0:0,0,0:98,92,118:52,58,31:0,22,23:NM_022842.3(CDCP1) c.1025-27A>C,-:0.52,-:0.382131,- 3 45152334 . C . . NT END=45153574;NT GT ./. 3 45152343 rs78586406 G A 105 nt VT=SNV;PN=A;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=G/0.9722,A/0.02776;Gene=CDCP1/NM_022842.4/1;CC=c.656-10C>T;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.656-10C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:81:38:0:0:35,46:1126,1507:105.22,0.00:29.31,0.00:75.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.9,8.0:0,0:0,0:79,90:72,58:30,28:NM_022842.3(CDCP1) c.656-10C>T,-:0.04,-:0.050585,- 3 45153422 rs6778556 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2324,G/0.7676;Gene=CDCP1/NM_022842.4/1;CC=c.655+153T>C;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.655+153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:172:A,G:15:14:0:0:9,6:279,173:0.00,15.78:0.00,16.00:0.00,-0.22:0.00,0.96:0.00,1.00:0.00,0.60:60,60:8.8,28.8:0,0:0,0:39,25:112,121:37,24:-,NM_022842.3(CDCP1) c.655+153T>C:-,0.75:-,NOT_FOUND 3 45153708 rs35501071 G A 240 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=152;DB;DBA=NA;PAF=G/0.8624,A/0.1376;PC=0.225;Gene=CDCP1/NM_022842.4/1;CC=c.522C>T;ProtCh=p.I174=;VC=Silent;Gene=CDCP1/NM_178181.2/0;CC=c.522C>T;ProtCh=p.I174=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:152:116:0:0:77,75:2493,2379:240.35,0.00:132.22,0.00:108.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,8.3:0,0:0,0:82,47:61,102:41,34:NM_022842.3(CDCP1) c.522C>T (p.(=)),-:0.14,-:0.153391,- 3 45153938 . C . . NT END=45159903;NT GT ./. 3 45154080 rs6779301 A G 89 nt VT=SNV;PN=C;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.865,G/0.135;Gene=CDCP1/NM_022842.4/1;CC=c.293-143T>C;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.293-143T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:39:4:0:0:13,26:384,872:0.00,88.85:0.00,3.72:0.00,85.13:0.00,1.00:0.00,0.99:0.00,1.00:60,60:6.4,42.6:0,0:0,0:123,113:28,37:17,34:-,NM_022842.3(CDCP1) c.293-143T>C:-,0.15:-,NOT_FOUND 3 45159734 rs4683048 G C 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.26,C/0.74;Gene=CDCP1/NM_022842.4/1;CC=c.292+170C>G;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.292+170C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:194:22.26:22.26:0.00:1.00:1.00:0.00:60:57.3:0:0:23:127:8:NM_022842.3(CDCP1) c.292+170C>G,NM_022842.3(CDCP1) c.292+170C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 3 45160114 . C . . NT END=45187697;NT GT ./. 3 45160335 rs4683049 G C 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2151,C/0.7849;Gene=CDCP1/NM_022842.4/1;CC=c.83-222C>G;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.83-222C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:247:28.51:0.00:28.51:1.00:0.00:1.00:60:66.0:0:0:107:43:16:NM_022842.3(CDCP1) c.83-222C>G,NM_022842.3(CDCP1) c.83-222C>G:0.76,0.76:NOT_FOUND,NOT_FOUND 3 45187524 rs1863836 A G 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.07508,G/0.9249;Gene=CDCP1/NM_022842.4/1;CC=c.82+174T>C;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.82+174T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:361:41.35:41.35:0.00:1.00:1.00:0.00:60:53.8:0:0:39:112:23:NM_022842.3(CDCP1) c.82+174T>C,NM_022842.3(CDCP1) c.82+174T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 3 45187537 rs56190366 T A 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.7161,A/0.2839;Gene=CDCP1/NM_022842.4/1;CC=c.82+161A>T;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.82+161A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:14:14:0:0:6,1,7:200,9,224:18.95,0.16,0.00:18.95,0.16,0.00:0.00,0.00,0.00:0.96,0.00,0.00:0.96,0.00,0.00:0.00,0.00,0.00:60,60,60:56.0,99.0,38.1:0,0,0:0,0,0:22,36,59:128,115,92:17,0,16:NM_022842.3(CDCP1) c.82+161A>T,-:0.31,-:NOT_FOUND,- 3 45187671 rs1863837 C T 105 nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.3594,T/0.6406;PC=0.003;Gene=CDCP1/NM_022842.4/1;CC=c.82+27G>A;VC=Intron;Gene=CDCP1/NM_178181.2/0;CC=c.82+27G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:54:0:0:31,32:985,1089:0.00,105.21:0.00,83.41:0.00,21.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.3,38.6:0,0:0,0:41,41:91,110:30,24:-,NM_022842.3(CDCP1) c.82+27G>A:-,0.64:-,0.580303 3 45187780 . G . . NT END=45266616;NT GT ./. 3 45201350 rs6801519 A G 159 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.03834,G/0.9617;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:G:45:35:0:0:45:1377:158.91:99.17:59.74:1.00:1.00:1.00:60:54.9:0:0:56:94:29:chr3 g.45201349A>G (intergenic),chr3 g.45201349A>G (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 3 45201365 rs6806366 T C 90 nt VT=SNV;PN=G;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.2023,C/0.7977;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:37:0:0:29,21:911,665:90.13,0.00:55.05,0.00:35.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:67.4,33.0:0,0:0,0:48,66:100,85:38,29:chr3 g.45201364T>C (intergenic),-:0.8,-:NOT_FOUND,- 3 45266555 rs33749 T C 259 nt VT=SNV;PN=C;NN=C;SST=Single;DP=198;DB;DBA=NA;PAF=T/0.3369,C/0.6631;PC=0.932;Gene=TMEM158/NM_015444.2/1;CC=c.*62A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:198:186:0:0:92,1,105:2740,5,3454:258.65,-0.22,0.00:223.83,-0.18,0.00:34.83,-0.04,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.1,69.0,8.7:0,0,0:0,0,0:49,60,47:101,91,102:30,0,28:NM_015444.2(TMEM158) c.*62A>G,-:0.68,-:NOT_FOUND,- 3 45267058 rs33750 G A 405 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=244;DB;DBA=NA;PAF=G/0.6909,A/0.3091;PC=0.971;Gene=TMEM158/NM_015444.2/1;CC=c.462C>T;ProtCh=p.T154=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:244:165:0:0:128,2,114:4167,13,3533:404.98,-0.33,0.00:213.27,-0.14,0.00:191.71,-0.19,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.4,65.5,11.0:0,0,0:0,0,0:72,119,71:72,31,70:38,13,36:NM_015444.2(TMEM158) c.462C>T (p.(=)),-:0.38,-:NOT_FOUND,- 3 45267310 rs41118 C T 312 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=218;DB;DBA=NA;PAF=C/0.3462,T/0.6538;PC=0.743;Gene=TMEM158/NM_015444.2/1;CC=c.210G>A;ProtCh=p.A70=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:218:151:0:0:116,102:3449,3287:0.00,311.98:0.00,155.29:0.00,156.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,85.8:2,0:0,0:76,88:66,58:41,37:-,NM_015444.2(TMEM158) c.210G>A (p.(=)):-,0.65:-,NOT_FOUND 3 45267321 rs395917 C T 285 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=215;DB;DBA=NA;PAF=C/0.355,T/0.645;PC=0.031;Gene=TMEM158/NM_015444.2/1;CC=c.199G>A;ProtCh=p.A67T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:215:146:0:0:114,2,99:3730,14,3014:0.00,-0.36,284.61:0.00,-0.22,134.01:0.00,-0.14,150.60:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.6,42.0,93.6:0,0,0:0,0,0:82,4,73:63,146,75:41,4,36:-,NM_015444.2(TMEM158) c.199G>A (p.Ala67Thr):-,0.66:-,NOT_FOUND 3 45267361 rs72549122 C T 290 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=187;DB;DBA=NA;PAF=C/0.9972,T/0.002796;NP=7;PC=0.955;Gene=TMEM158/NM_015444.2/1;CC=c.159G>A;ProtCh=p.S53=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:187:118:0:0:94,2,91:2856,28,3021:0.00,0.08,289.81:0.00,-0.21,122.67:0.00,0.28,167.13:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.5,33.5,90.4:0,0,0:0,0,0:76,129,84:69,21,62:23,5,35:-,NM_015444.2(TMEM158) c.159G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 45267520 . g . . NT END=45435945;NT GT ./. 3 45288173 rs139916345 G GTGTA 20 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7702,A/0.2298;DB;DBA=NA;PAF=NA;NP=127;NP=2;NP=21;PC=0.977;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:G,GTGTA:7:2:6:0:1,6:31,182:0.00,19.81:0.00,5.46:0.00,14.35:0.00,1.00:0.00,0.98:0.00,1.00:60,70:157.0,6.0:0,0:0,0:117,92:32,58:0,42:-,chr3 g.45288173_45288174insTGTA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 45436180 . G . . NT END=45441736;NT GT ./. 3 45441757 rs114881088 C T 126 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=10;PC=0.972;Gene=LARS2/NM_015340.3/1;CC=c.255C>T;ProtCh=p.Y85=;VC=Silent;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:61:0:0:37,40:1161,1303:0.00,126.28:0.00,89.94:0.00,36.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,36.9:0,0:0,0:89,49:61,97:34,29:-,NM_015340.3(LARS2) c.255C>T (p.(=)):-,0.0005:-,0.001615 3 45441866 . G . . NT END=45458973;NT GT ./. 3 45458733 rs17576289 A G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.872,G/0.128;Gene=LARS2/NM_015340.3/1;CC=c.364-241A>G;VC=Intron;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:5:0:0:3,2:102,71:0.00,6.59:0.00,6.59:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:0.0,35.5:0,0:0,0:126,74:25,77:7,52:-,NM_015340.3(LARS2) c.364-241A>G:-,0.15:-,NOT_FOUND 3 45459066 . G . . NT END=45461160;NT GT ./. 3 45460914 rs854202 T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3454,C/0.6546;Gene=LARS2/NM_015340.3/1;CC=c.456-247T>C;VC=Intron;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:70,66:6.75,0.00:6.75,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:40.5,0.0:0,0:0,0:70,62:80,89:31,17:NM_015340.3(LARS2) c.456-247T>C,-:0.65,-:NOT_FOUND,- 3 45461102 rs397727611 G GT 45 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3397,GT/0.6603;DB;DBA=NA;PAF=G/0.3397,GT/0.6603;NP=3073;Gene=LARS2/NM_015340.3/1;CC=c.456-57dupT;VC=Intron;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:34:29:15:0:19,15:630,479:0.00,44.92:0.00,30.84:0.00,14.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,3.2:0,0:0,0:66,52:85,99:35,31:-,NM_015340.3(LARS2) c.456-59_456-58insT:-,0.66:-,0.795847 3 45461222 . G . . NT END=45488382;NT GT ./. 3 45488473 . G . . NT END=45500234;NT GT ./. 3 45500174 rs745551 C A 168 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.1376,A/0.8624;PC=0.006;Gene=LARS2/NM_015340.3/1;CC=c.607-61C>A;VC=Intron;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:A:45:42:0:0:45:1469:168.35:140.23:28.13:1.00:1.00:1.00:60:46.8:9:0:25:123:22:NM_015340.3(LARS2) c.607-61C>A,NM_015340.3(LARS2) c.607-61C>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 45500178 . CA C 12 rn VT=DEL;SST=Single;DP=45;NP=39;PC=0.165;Gene=LARS2/NM_015340.3/1;CC=c.607-45delA;VC=Intron;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:A,CA,T,I,C:44:42:3:5:2,34,1,2,5:43,1097,25,100,165:2.09,0.00,1.01,4.28,12.38:-0.56,0.00,1.06,4.39,12.66:2.65,0.00,-0.05,-0.11,-0.28:0.00,0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.00,0.68:60,60,60,60,60:72.5,44.4,42.0,56.5,39.0:1,0,0,1,0:0,0,0,0,0:55,25,0,46,30:96,125,151,104,121:29,18,0,19,23:-,NM_015340.3(LARS2) c.607-56delA:-,NOT_FOUND:-,NOT_FOUND 3 45500379 . G . . NT END=45515734;NT GT ./. 3 45515648 rs11919039 T C 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.4964,C/0.5036;Gene=LARS2/NM_015340.3/1;CC=c.751-87T>C;VC=Intron;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:23:0:0:8,16:258,518:22.98,0.00:23.24,0.00:-0.26,0.00:0.99,0.00:1.00,0.00:0.63,0.00:60,60:32.2,5.2:0,0:0,0:25,76:123,75:16,32:NM_015340.3(LARS2) c.751-87T>C,-:0.54,-:NOT_FOUND,- 3 45515843 . G . . NT END=45517959;NT GT ./. 3 45517799 rs3733117 T C 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.2163,C/0.7837;Gene=LARS2/NM_015340.3/1;CC=c.859-161T>C;VC=Intron;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:345:39.27:39.27:0.00:1.00:1.00:0.00:60:40.8:0:0:16:134:5:NM_015340.3(LARS2) c.859-161T>C,NM_015340.3(LARS2) c.859-161T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 3 45518120 . G . . NT END=45527183;NT GT ./. 3 45527099 rs7640603 C G 65 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1352,G/0.8648;Gene=LARS2/NM_015340.3/1;CC=c.1019-85C>G;VC=Intron;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:17:0:0:17:566:64.69:64.69:0.00:1.00:1.00:0.00:60:48.4:0:0:50:101:30:NM_015340.3(LARS2) c.1019-85C>G,NM_015340.3(LARS2) c.1019-85C>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 45527218 rs7610357 T C 147 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.2171,C/0.7829;PC=0.906;Gene=LARS2/NM_015340.3/1;CC=c.1053T>C;ProtCh=p.L351=;VC=Silent;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:27:0:0:38:1286:146.67:81.03:65.65:1.00:1.00:1.00:60:40.8:0:0:60:90:37:NM_015340.3(LARS2) c.1053T>C (p.(=)),NM_015340.3(LARS2) c.1053T>C (p.(=)):0.82,0.82:0.774181,0.774181 3 45527289 . G . . NT END=45530188;NT GT ./. 3 45527484 rs7612869 T C 22 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1773,C/0.8227;Gene=LARS2/NM_015340.3/1;CC=c.1123+196T>C;VC=Intron;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:1:0:0:6:196:22.46:1.99:20.47:1.00:1.00:1.00:70:38.2:0:0:90:59:42:NM_015340.3(LARS2) c.1123+196T>C,NM_015340.3(LARS2) c.1123+196T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 45527508 rs74801422 T TAAG 13 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1474,TAAG/0.8526,TTAAG/.;DB;DBA=NA;PAF=T/0.1474,TAAG/0.8526;DB;DBA=NA;PAF=NA;NP=171;PC=0.227;Gene=LARS2/NM_015340.3/1;CC=c.1123+224_1123+226dupAAG;VC=Intron;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:T,TAAG:5:1:4:0:1,4:26,126:0.00,13.42:0.00,1.59:0.00,11.83:0.00,0.96:0.00,0.87:0.00,0.96:60,70:29.0,38.8:0,0:0,0:147,70:2,69:0,30:-,NM_015340.3(LARS2) c.1123+220_1123+221insAAG:-,0.9:-,NOT_FOUND 3 45530305 . G . . NT END=45533008;NT GT ./. 3 45530401 rs3733116 G A 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4968,A/0.5032;Gene=LARS2/NM_015340.3/1;CC=c.1239+97G>A;VC=Intron;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:13:0:0:0:7,6:214,205:20.84,0.00:0.00,0.00:20.84,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:32.0,0.0:0,0:0,0:102,92:49,58:30,16:NM_015340.3(LARS2) c.1239+97G>A,-:0.54,-:NOT_FOUND,- 3 45533224 rs2128361 G A 376 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=G/0.2173,A/0.7827,T/.;Gene=LARS2/NM_015340.3/1;CC=c.1455G>A;ProtCh=p.A485=;VC=Silent;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:101:55:0:0:101:3278:375.82:144.53:231.29:1.00:1.00:1.00:60:40.6:0:0:81:67:37:NM_015340.3(LARS2) c.1455G>A (p.(=)),NM_015340.3(LARS2) c.1455G>A (p.(=)):0.82,0.82:0.774258,0.774258 3 45533293 . G . . NT END=45537766;NT GT ./. 3 45537866 . G . . NT END=45541933;NT GT ./. 3 45537973 rs12638088 C T 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.754,T/0.246;PC=0.001;Gene=LARS2/NM_015340.3/1;CC=c.1622+108C>T;VC=Intron;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding;DM=LARS2/tRNA-synt_1;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:12:1:0:0:8,4:254,134:0.00,12.00:0.00,3.60:0.00,8.40:0.00,0.80:0.00,0.56:0.00,0.98:60,60:11.6,35.5:0,0:0,0:105,113:45,38:36,11:-,NM_015340.3(LARS2) c.1622+108C>T:-,0.26:-,NOT_FOUND 3 45542072 . G . . NT END=45554626;NT GT ./. 3 45542083 rs2306522 T C 63 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.4966,C/0.5034;Gene=LARS2/NM_015340.3/1;CC=c.1760+12T>C;VC=Intron;Gene=LARS2-AS1/NR_048543.1/0;VC=NonCoding;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:11:0:0:19,19:650,616:62.63,0.00:13.75,0.00:48.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,3.4:0,0:0,0:100,92:51,53:32,20:NM_015340.3(LARS2) c.1760+12T>C,-:0.55,-:0.476165,- 3 45554728 . G . . NT END=45557585;NT GT ./. 3 45557707 rs11549809 G A 86 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.7538,A/0.2462;Gene=LARS2/NM_015340.3/1;CC=c.1983G>A;ProtCh=p.T661=;VC=Silent;DM=LARS2/tRNA-synt_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:87:61:0:0:29,58:958,1908:85.59,0.00:41.69,0.00:43.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.1,8.3:0,0:0,0:76,73:65,64:41,41:NM_015340.3(LARS2) c.1983G>A (p.(=)),-:0.26,-:0.283715,- 3 45557769 . G . . NT END=45559394;NT GT ./. 3 45559519 rs2170549 T C 236 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.1506,C/0.8494;Gene=LARS2/NM_015340.3/1;CC=c.2169T>C;ProtCh=p.A723=;VC=Silent;DM=LARS2/Anticodon_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:66:38:0:0:66:2041:235.53:92.02:143.51:1.00:1.00:1.00:60:38.2:0:0:82:64:32:NM_015340.3(LARS2) c.2169T>C (p.(=)),NM_015340.3(LARS2) c.2169T>C (p.(=)):0.89,0.89:0.851453,0.851453 3 45559565 . G . . NT END=45561710;NT GT ./. 3 45559621 rs2276860 C T 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.7544,T/0.2456;PC=0.002;Gene=LARS2/NM_015340.3/1;CC=c.2214+57C>T;VC=Intron;DM=LARS2/Anticodon_1;DM=LARS2/Anticodon_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:9:0:0:15,17:524,547:0.00,53.18:0.00,14.22:0.00,38.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.0,53.9:0,0:0,0:120,112:29,39:25,24:-,NM_015340.3(LARS2) c.2214+57C>T:-,0.26:-,NOT_FOUND 3 45561487 rs267224 C T 7 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4958,T/0.5042;Gene=LARS2/NM_015340.3/1;CC=c.2215-224C>T;VC=Intron;DM=LARS2/Anticodon_1;DM=LARS2/Anticodon_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:4:4:0:0:2,2:64,71:0.00,6.85:0.00,6.85:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,51.5:0,0:0,0:37,59:113,91:35,29:-,NM_015340.3(LARS2) c.2215-224C>T:-,0.55:-,NOT_FOUND 3 45561789 . G . . NT END=45565488;NT GT ./. 3 45565554 rs267220 A G 215 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.1392,G/0.8608;PC=0.999;Gene=LARS2/NM_015340.3/1;CC=c.2358A>G;ProtCh=p.V786=;VC=Silent;DM=LARS2/Anticodon_1;DM=LARS2/Anticodon_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:G:56:35:0:0:56:1886:215.25:88.53:126.72:1.00:1.00:1.00:60:40.0:0:0:72:77:22:NM_015340.3(LARS2) c.2358A>G (p.(=)),NM_015340.3(LARS2) c.2358A>G (p.(=)):0.9,0.9:0.868676,0.868676 3 45565601 . G . . NT END=45583320;NT GT ./. 3 45583297 rs34191038 C T 122 nt VT=SNV;PN=A;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=NA;PC=0.002;Gene=LARS2/NM_015340.3/1;CC=c.2405-24C>T;VC=Intron;DM=LARS2/Anticodon_1;DM=LARS2/Anticodon_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:66:0:0:40,40:1332,1269:0.00,121.89:0.00,81.03:0.00,40.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,42.4:0,0:0,0:66,58:71,91:37,37:-,NM_015340.3(LARS2) c.2405-24C>T:-,0.13:-,0.162079 3 45583449 . G . . NT END=45588842;NT GT ./. 3 45589023 . C . . NT END=45636371;NT GT ./. 3 45636270 . AACACACACACACAC A 15 idl,nt VT=DEL;SST=Single;DP=21;PC=0.001;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:AACACACACACACAC,A:14:21:0:12:9,5:287,383:0.00,14.81:0.00,14.87:0.00,-0.06:0.00,0.85:0.00,0.85:0.00,0.49:60,60:27.6,54.4:0,7:0,0:52,41:90,99:35,14:-,NM_014240.2(LIMD1) c.-49-u52_-49-u39delACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 45637780 . G . . NT END=45673992;NT GT ./. 3 45637830 rs13086458 A G 84 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7981,G/0.2019;Gene=LIMD1/NM_014240.2/1;CC=c.1408+51A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:6:0:0:25:719:83.70:11.60:72.09:1.00:1.00:1.00:60:35.3:0:0:106:45:23:NM_014240.2(LIMD1) c.1408+51A>G,NM_014240.2(LIMD1) c.1408+51A>G:0.22,0.22:0.255075,0.255075 3 45673989 rs9865354 A G 80 nt VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.8958,G/0.1042;PC=0.001;Gene=LIMD1/NM_014240.2/1;CC=c.1409-3653A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:53:0:0:40,26:1244,865:0.00,79.68:0.00,42.26:0.00,37.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,35.2:0,0:0,0:71,48:77,96:25,23:-,NM_014240.2(LIMD1) c.1409-3653A>G:-,0.1:-,NOT_FOUND 3 45674049 . G . . NT END=45677378;NT GT ./. 3 45677224 . CAAAAAAAAAAAA C 12 idl,nt VT=DEL;SST=Single;DP=12;NP=1;PC=0.425;Gene=LIMD1/NM_014240.2/1;CC=c.1409-401_1409-390delAAAAAAAAAAAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:CAAAAAAAAAAAA,C:9:12:0:7:5,4:157,230:0.00,12.32:0.00,12.32:0.00,0.00:0.00,0.80:0.00,0.80:0.00,0.00:60,60:20.2,0.0:0,3:0,0:99,59:51,92:39,14:-,NM_014240.2(LIMD1) c.1409-417_1409-406delAAAAAAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 3 45677398 rs7648681 G A 285 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.7206,A/0.2794;PC=0.005;Gene=LIMD1/NM_014240.2/1;CC=c.1409-244G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:60:0:0:76:2485:284.70:191.43:93.26:1.00:1.00:1.00:60:36.4:0:0:75:73:43:NM_014240.2(LIMD1) c.1409-244G>A,NM_014240.2(LIMD1) c.1409-244G>A:0.32,0.32:NOT_FOUND,NOT_FOUND 3 45677532 . G . . NT END=45677641;NT GT ./. 3 45677637 rs62242177 G T 219 nt VT=SNV;PN=T;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.496,T/0.504;NP=3231;PC=0.003;Gene=LIMD1/NM_014240.2/1;CC=c.1409-5G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:A,G,T:64:36:0:0:2,1,61:18,30,1926:0.41,0.00,218.95:0.17,0.00,100.74:0.24,0.00,118.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:61.5,32.0,105.9:0,1,0:0,0,0:20,1,49:131,149,94:11,0,30:NM_014240.2(LIMD1) c.1409-5G>T,NM_014240.2(LIMD1) c.1409-5G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 45677638 rs62242178 C G 223 nt VT=SNV;PN=G;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=NA;NP=137;Gene=LIMD1/NM_014240.2/1;CC=c.1409-4C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:141:C,G,T,D:63:35:0:1:1,60,1,1:11,1968,10,31:0.00,222.91,0.14,1.78:0.00,95.87,-0.01,-0.01:0.00,127.04,0.15,1.79:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:82.0,105.5,41.0,32.0:0,0,0,0:0,0,0,0:10,56,32,2:141,91,119,148:0,35,0,0:NM_014240.2(LIMD1) c.1409-4C>G,NM_014240.2(LIMD1) c.1409-4C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 45677639 rs63132361 A C 238 nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.505,C/0.495;NP=14;PC=0.205;Gene=LIMD1/NM_014240.2/1;CC=c.1409-3A>C;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:C:63:36:0:1:63:2078:237.66:105.81:131.84:1.00:1.00:1.00:60:105.3:0:0:57:90:37:NM_014240.2(LIMD1) c.1409-3A>C,NM_014240.2(LIMD1) c.1409-3A>C:NOT_FOUND,NOT_FOUND:0.048055,0.048055 3 45677744 . G . . NT END=45707141;NT GT ./. 3 45677782 rs36136468 G A 67 nt VT=SNV;PN=C;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.8478,A/0.1522;Gene=LIMD1/NM_014240.2/1;CC=c.1510+39G>A;VC=Intron;DM=LIMD1/LIM;DM=LIMD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:39:17:0:0:22,17:677,565:66.53,0.00:11.93,0.00:54.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.8,1.2:0,0:0,0:112,114:37,34:22,12:NM_014240.2(LIMD1) c.1510+39G>A,-:0.18,-:0.193372,- 3 45677815 rs544848250 G GAGA 59 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.7278,GAGA/0.2722;DB;DBA=NA;PAF=G/0.7278,GAGA/0.2722;NP=1625;Gene=LIMD1/NM_014240.2/1;CC=c.1510+73_1510+75dupAGA;VC=Intron;DM=LIMD1/LIM;DM=LIMD1/LIM;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:G,GAGA:25:3:18:0:7,18:200,573:0.00,59.47:0.00,6.87:0.00,52.60:0.00,1.00:0.00,0.98:0.00,1.00:60,60:41.6,24.2:1,0:0,0:146,73:4,77:1,31:-,NM_014240.2(LIMD1) c.1510+72_1510+73insAGA:-,NOT_FOUND:-,NOT_FOUND 3 45707210 . G . . NT END=45709785;NT GT ./. 3 45709849 . G . . NT END=45714181;NT GT ./. 3 45714313 . G . . NT END=45714945;NT GT ./. 3 45714998 . G . . NT END=45715834;NT GT ./. 3 45715688 rs2578679 G A 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.1454,A/0.8546;Gene=LIMD1/NM_014240.2/1;CC=c.1825-147G>A;VC=Intron;DM=LIMD1/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:255,197:24.83,0.00:24.83,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:45.8,25.0:0,0:0,0:35,26:116,125:31,16:NM_014240.2(LIMD1) c.1825-147G>A,-:0.82,-:NOT_FOUND,- 3 45715904 . G . . NT END=45718413;NT GT ./. 3 45718552 . C . . NT END=45730957;NT GT ./. 3 45730990 . G . . NT END=45744929;NT GT ./. 3 45745028 . G . . NT END=45746626;NT GT ./. 3 45746702 . G . . NT END=45748271;NT GT ./. 3 45748400 . G . . NT END=45750989;NT GT ./. 3 45748429 rs2742441 G A 54 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.595,A/0.405;Gene=SACM1L/NM_014016.3/1;CC=c.333+30G>A;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:17:0:0:19,19:566,669:54.20,0.00:18.65,0.00:35.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.7,7.1:0,0:0,0:106,94:42,54:20,13:NM_014016.3(SACM1L) c.333+30G>A,-:0.43,-:0.496309,- 3 45748435 rs2673039 A G 53 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.6857,G/0.3143;Gene=SACM1L/NM_014016.3/1;CC=c.333+36A>G;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:14:0:0:18,17:605,551:0.00,52.68:0.00,16.64:0.00,36.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,63.3:0,0:0,0:102,100:44,46:10,20:-,NM_014016.3(SACM1L) c.333+36A>G:-,0.37:-,0.422497 3 45748599 rs2742442 T A 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5946,A/0.4054;Gene=SACM1L/NM_014016.3/1;CC=c.333+200T>A;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,T,I:10:0:1:0:5,4,1:162,130,31:15.88,0.00,2.40:0.00,0.00,0.00:15.88,0.00,2.40:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:57.6,12.2,67.0:0,0,0:0,0,0:114,108,63:37,42,88:27,19,0:NM_014016.3(SACM1L) c.333+200T>A,-:0.39,-:NOT_FOUND,- 3 45748632 rs2673038 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.595,G/0.405;Gene=SACM1L/NM_014016.3/1;CC=c.333+233A>G;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:6:0:0:0:2,4:66,130:0.00,13.25:0.00,0.00:0.00,13.25:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,72.8:0,0:0,0:122,106:29,45:0,20:-,NM_014016.3(SACM1L) c.333+233A>G:-,0.43:-,NOT_FOUND 3 45751140 . G . . NT END=45754628;NT GT ./. 3 45754487 rs2742369 C A 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5948,A/0.4052;Gene=SACM1L/NM_014016.3/1;CC=c.484-142C>A;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:112:A,C:10:10:0:0:4,6:112,175:10.17,0.00:10.17,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:28.0,7.7:0,0:0,0:104,92:46,56:25,26:NM_014016.3(SACM1L) c.484-142C>A,-:0.43,-:NOT_FOUND,- 3 45754685 rs2271619 A G 59 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.8626,G/0.1374;PC=0.999;Gene=SACM1L/NM_014016.3/1;CC=c.540A>G;ProtCh=p.P180=;VC=Silent;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:36:21:0:0:16,20:524,602:0.00,58.96:0.00,20.50:0.00,38.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,31.2:0,0:0,0:88,77:51,73:28,40:-,NM_014016.3(SACM1L) c.540A>G (p.(=)):-,0.14:-,0.152699 3 45754689 . G . . NT END=45755537;NT GT ./. 3 45754749 rs2248991 G A 21 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.595,A/0.405;Gene=SACM1L/NM_014016.3/1;CC=c.543+61G>A;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:7:0:0:7,13:229,435:20.62,0.00:2.76,0.00:17.86,0.00:0.97,0.00:0.93,0.00:1.00,0.00:60,60:35.9,24.8:0,0:0,0:103,98:48,53:27,27:NM_014016.3(SACM1L) c.543+61G>A,-:0.43,-:0.515331,- 3 45755572 . G . . NT END=45760991;NT GT ./. 3 45755636 rs6764981 G C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8626,C/0.1374;Gene=SACM1L/NM_014016.3/1;CC=c.577+65G>C;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:182:C,G:16:7:0:0:10,6:301,186:30.26,0.00:10.13,0.00:20.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.1,8.7:0,0:0,0:97,89:53,61:25,39:NM_014016.3(SACM1L) c.577+65G>C,-:0.14,-:0.151963,- 3 45755732 rs35864358 TG T 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TG/0.04513,T/0.9549;NP=72;PC=0.001;Gene=SACM1L/NM_014016.3/1;CC=c.577+162delG;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:TG,T:7:0:0:5:3,4:101,126:0.00,12.43:0.00,0.00:0.00,12.43:0.00,0.90:0.00,0.00:0.00,0.90:60,60:71.3,43.8:0,0:0,0:78,106:73,43:6,5:-,NM_014016.3(SACM1L) c.577+162delG:-,0.95:-,NOT_FOUND 3 45761094 . G . . NT END=45763491;NT GT ./. 3 45761115 rs2064062 G C 61 nt VT=SNV;PN=G;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.4545,C/0.5455;PC=0.001;Gene=SACM1L/NM_014016.3/1;CC=c.679+22G>C;VC=Intron;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:7:0:0:17:532:61.26:16.06:45.20:1.00:1.00:1.00:60:55.6:0:0:108:43:16:NM_014016.3(SACM1L) c.679+22G>C,NM_014016.3(SACM1L) c.679+22G>C:0.57,0.57:0.651723,0.651723 3 45763578 . G . . NT END=45764360;NT GT ./. 3 45763635 rs2673062 A G 64 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4543,G/0.5457;Gene=SACM1L/NM_014016.3/1;CC=c.765+58A>G;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G:18:1:0:0:18:556:64.10:2.98:61.13:1.00:1.00:1.00:60:34.1:0:0:80:70:32:NM_014016.3(SACM1L) c.765+58A>G,NM_014016.3(SACM1L) c.765+58A>G:0.57,0.57:0.669733,0.669733 3 45764246 rs2742448 A G 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4533,G/0.5467;Gene=SACM1L/NM_014016.3/1;CC=c.766-115A>G;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:10:0:0:10:316:36.37:36.37:0.00:1.00:1.00:0.00:60:42.0:0:0:62:88:40:NM_014016.3(SACM1L) c.766-115A>G,NM_014016.3(SACM1L) c.766-115A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 3 45764448 . G . . NT END=45764966;NT GT ./. 3 45764544 rs2742449 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4545,C/0.5455;Gene=SACM1L/NM_014016.3/1;CC=c.852+97T>C;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:109:12.80:0.00:12.80:1.00:0.00:1.00:60:38.0:0:0:123:28:15:NM_014016.3(SACM1L) c.852+97T>C,NM_014016.3(SACM1L) c.852+97T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 3 45765036 . G . . NT END=45772792;NT GT ./. 3 45765748 rs11716028 G A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8588,A/0.1412;PC=0.001;Gene=SACM1L/NM_014016.3/1;CC=c.921+713G>A;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:3:0:0:3,1:98,35:10.25,0.00:7.00,0.00:3.25,0.00:0.85,0.00:0.99,0.00:0.95,0.00:60,27:32.7,35.0:0,0:0,0:67,54:78,79:6,0:NM_014016.3(SACM1L) c.921+713G>A,-:0.14,-:NOT_FOUND,- 3 45765858 rs2742453 G A 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4547,A/0.5453;PC=0.015;Gene=SACM1L/NM_014016.3/1;CC=c.921+823G>A;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:3:0:0:4:90:10.84:4.65:6.19:1.00:1.00:1.00:60:39.2:0:0:28:121:12:NM_014016.3(SACM1L) c.921+823G>A,NM_014016.3(SACM1L) c.921+823G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 3 45772742 rs2531755 T C 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4545,A/.,C/0.5455;PC=0.001;Gene=SACM1L/NM_014016.3/1;CC=c.922-51T>C;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:9:0:0:11:359:41.12:29.33:11.79:1.00:1.00:1.00:60:80.9:0:0:25:111:15:NM_014016.3(SACM1L) c.922-51T>C,NM_014016.3(SACM1L) c.922-51T>C:0.57,0.57:0.604538,0.604538 3 45772744 rs11708140 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.894,T/0.106;PC=0.009;Gene=SACM1L/NM_014016.3/1;CC=c.922-49C>T;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:11:9:0:0:6,5:212,166:0.00,15.69:0.00,12.82:0.00,2.88:0.00,0.93:0.00,0.99:0.00,0.95:60,60:63.7,101.6:0,0:0,0:49,27:101,124:19,9:-,NM_014016.3(SACM1L) c.922-49C>T:-,0.11:-,NOT_FOUND 3 45772772 rs2673055 G A 57 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.4545,A/0.5455;Gene=SACM1L/NM_014016.3/1;CC=c.922-21G>A;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:13:0:0:15:501:57.25:39.16:18.10:1.00:1.00:1.00:60:68.4:0:0:53:81:22:NM_014016.3(SACM1L) c.922-21G>A,NM_014016.3(SACM1L) c.922-21G>A:0.57,0.57:0.651084,0.651084 3 45772873 . G . . NT END=45773544;NT GT ./. 3 45773288 rs2276859 A C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.894,C/0.106;PC=0.002;Gene=SACM1L/NM_014016.3/1;CC=c.1002-257A>C;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:5:5:0:0:2,3:66,100:0.00,9.97:0.00,9.97:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:31.0,65.3:0,0:0,0:38,9:112,142:6,7:-,NM_014016.3(SACM1L) c.1002-257A>C:-,0.11:-,NOT_FOUND 3 45773320 rs2253979 A G 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4577,G/0.5423;Gene=SACM1L/NM_014016.3/1;CC=c.1002-225A>G;VC=Intron;DM=SACM1L/Syja_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:215:24.84:24.84:0.00:1.00:1.00:0.00:60:45.0:0:0:41:110:30:NM_014016.3(SACM1L) c.1002-225A>G,NM_014016.3(SACM1L) c.1002-225A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 3 45773644 . G . . NT END=45776726;NT GT ./. 3 45773732 rs11709306 G A 45 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4545,A/0.5455;Gene=SACM1L/NM_014016.3/1;CC=c.1100+89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:390:44.72:0.00:44.72:1.00:0.00:1.00:60:36.3:0:0:96:55:23:NM_014016.3(SACM1L) c.1100+89G>A,NM_014016.3(SACM1L) c.1100+89G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 3 45776866 . G . . NT END=45779074;NT GT ./. 3 45776875 rs35082575 C CT 73 idl,rn VT=INS;SST=Single;DP=65;DB;DBA=NA;PAF=NA;NP=45;PC=0.001;Gene=SACM1L/NM_014016.3/1;CC=c.1239+23dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT,D:62:34:27:6:33,25,4:1053,844,164:0.00,72.51,9.16:0.00,23.93,0.85:0.00,48.58,8.31:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:27.6,11.7,17.5:0,2,1:0,0,0:108,87,88:26,63,50:33,30,22:-,NM_014016.3(SACM1L) c.1239+10_1239+11insT:-,NOT_FOUND:-,NOT_FOUND 3 45776900 rs1468543 A G 65 nt VT=SNV;PN=C;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.6855,G/0.3145;PC=0.051;Gene=SACM1L/NM_014016.3/1;CC=c.1239+35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:18:0:0:32,22:1016,703:0.00,64.90:0.00,7.38:0.00,57.53:0.00,1.00:0.00,1.00:0.00,1.00:70,60:9.3,50.1:0,0:0,0:96,95:51,53:25,30:-,NM_014016.3(SACM1L) c.1239+35A>G:-,0.37:-,0.422959 3 45779136 rs1468542 A T 199 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.4517,T/0.5483;PC=1.000;Gene=SACM1L/NM_014016.3/1;CC=c.1301A>T;ProtCh=p.Y434F;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:T:54:37:0:0:54:1735:199.20:103.49:95.71:1.00:1.00:1.00:60:38.4:0:0:82:65:23:NM_014016.3(SACM1L) c.1301A>T (p.Tyr434Phe),NM_014016.3(SACM1L) c.1301A>T (p.Tyr434Phe):0.57,0.57:0.651776,0.651776 3 45779145 . G . . NT END=45779263;NT GT ./. 3 45779337 . G . . NT END=45780069;NT GT ./. 3 45779943 rs1962800 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4179,A/0.5821;Gene=SACM1L/NM_014016.3/1;CC=c.1383-127G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:144:16.74:16.74:0.00:1.00:1.00:0.00:60:69.4:0:0:88:63:36:NM_014016.3(SACM1L) c.1383-127G>A,NM_014016.3(SACM1L) c.1383-127G>A:0.61,0.61:NOT_FOUND,NOT_FOUND 3 45780164 . G . . NT END=45780272;NT GT ./. 3 45780366 . G . . NT END=45781078;NT GT ./. 3 45780780 rs1019129 T C 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4563,C/0.5437;Gene=SACM1L/NM_014016.3/1;CC=c.1570-299T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:5:0:0:5:115:13.77:13.77:0.00:1.00:1.00:0.00:60:44.0:0:0:70:80:15:NM_014016.3(SACM1L) c.1570-299T>C,NM_014016.3(SACM1L) c.1570-299T>C:0.57,0.57:NOT_FOUND,NOT_FOUND 3 45781137 . G . . NT END=45785024;NT GT ./. 3 45781188 rs3821890 T G 54 nt VT=SNV;PN=T;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.8618,G/0.1382;PC=0.001;Gene=SACM1L/NM_014016.3/1;CC=c.1627+52T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:38:20:0:0:17,21:568,680:53.56,0.00:8.15,0.00:45.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,2.6:0,0:0,0:89,123:62,22:34,13:NM_014016.3(SACM1L) c.1627+52T>G,-:0.14,-:0.154153,- 3 45784963 rs9821974 T C 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.6833,C/0.3167;PC=0.213;Gene=SACM1L/NM_014016.3/1;CC=c.1628-62T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:40:0:0:22,21:681,663:65.66,0.00:56.27,0.00:9.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.0,10.2:0,0:0,0:54,45:93,91:33,22:NM_014016.3(SACM1L) c.1628-62T>C,-:0.37,-:NOT_FOUND,- 3 45784972 rs10575376 GGT G 74 nt VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=GGT/0.6833,G/0.3167;NP=2492;Gene=SACM1L/NM_014016.3/1;CC=c.1628-52_1628-51delGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GGT,G:44:41:0:23:21,23:620,764:0.00,74.18:0.00,63.30:0.00,10.88:0.00,1.00:0.00,1.00:0.00,1.00:60,70:14.9,32.5:0,0:0,0:40,54:95,97:28,33:-,NM_014016.3(SACM1L) c.1628-52_1628-51delGT:-,0.37:-,NOT_FOUND 3 45785162 . A . . NT END=45799927;NT GT ./. 3 45799871 rs2251347 C T 130 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.03654,T/0.9635;Gene=SLC6A20/NM_020208.3/1;CC=c.*599G>A;VC=3UTR;Gene=SLC6A20/NM_022405.3/0;CC=c.*599G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:T:34:32:0:0:34:1137:129.85:116.88:12.97:1.00:1.00:1.00:60:45.2:0:0:56:87:40:NM_020208.3(SLC6A20) c.*599G>A,NM_020208.3(SLC6A20) c.*599G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 45800620 . C . . NT END=45801347;NT GT ./. 3 45801515 . C . . NT END=45804403;NT GT ./. 3 45804565 . C . . NT END=45807027;NT GT ./. 3 45804734 rs6770261 C T 55 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.7055,T/0.2945;Gene=SLC6A20/NM_020208.3/1;CC=c.1304-170G>A;VC=Intron;Gene=SLC6A20/NM_022405.3/0;CC=c.1193-170G>A;VC=Intron;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:0:0:0:21,17:527,585:0.00,55.38:0.00,0.00:0.00,55.38:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.0,36.4:0,0:0,0:122,115:28,36:21,24:-,NM_020208.3(SLC6A20) c.1304-170G>A:-,0.27:-,NOT_FOUND 3 45807234 . C . . NT END=45811699;NT GT ./. 3 45811864 . C . . NT END=45812707;NT GT ./. 3 45812104 rs758388 A G 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.03854,G/0.9615;Gene=SLC6A20/NM_020208.3/1;CC=c.936-241T>C;VC=Intron;Gene=SLC6A20/NM_022405.3/0;CC=c.825-241T>C;VC=Intron;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:347:39.94:0.00:39.94:1.00:0.00:1.00:60:36.1:0:0:107:44:36:NM_020208.3(SLC6A20) c.936-241T>C,NM_020208.3(SLC6A20) c.936-241T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 45812473 rs2077017 A G 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.03894,G/0.9611,T/.;Gene=SLC6A20/NM_020208.3/1;CC=c.935+236T>C;VC=Intron;Gene=SLC6A20/NM_022405.3/0;CC=c.824+236T>C;VC=Intron;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:327:37.94:37.94:0.00:1.00:1.00:0.00:60:30.6:0:0:49:102:29:NM_020208.3(SLC6A20) c.935+236T>C,NM_020208.3(SLC6A20) c.935+236T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 45812650 rs3733104 C T 92 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=NA;Gene=SLC6A20/NM_020208.3/1;CC=c.935+59G>A;VC=Intron;Gene=SLC6A20/NM_022405.3/0;CC=c.824+59G>A;VC=Intron;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:52:0:0:26,32:877,944:0.00,92.26:0.00,69.81:0.00,22.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,44.3:0,0:0,0:49,57:90,91:32,35:-,NM_020208.3(SLC6A20) c.935+59G>A:-,0.08:-,NOT_FOUND 3 45812951 . C . . NT END=45813995;NT GT ./. 3 45813025 rs758387 A G 139 nt VT=SNV;PN=T;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=A/0.5715,G/0.4285;Gene=SLC6A20/NM_020208.3/1;CC=c.694-75T>C;VC=Intron;Gene=SLC6A20/NM_022405.3/0;CC=c.583-75T>C;VC=Intron;DM=SLC6A20/SNF;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:102:36:0:0:54,47,1:1814,1471,11:0.00,139.17,-0.11:0.00,37.79,-0.04:0.00,101.39,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.8,42.1,168.0:0,0,0:0,0,0:93,104,65:57,47,86:27,29,0:-,NM_020208.3(SLC6A20) c.694-75T>C:-,0.45:-,NOT_FOUND 3 45814108 . C . . NT END=45817251;NT GT ./. 3 45814303 rs1468541 T C 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.08946,C/0.9105;Gene=SLC6A20/NM_020208.3/1;CC=c.583-196A>G;VC=Intron;Gene=SLC6A20/NM_022405.3/0;CC=c.583-1353A>G;VC=Intron;DM=SLC6A20/SNF;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:0:0:0:9:257:29.87:0.00:29.87:1.00:0.00:1.00:60:31.3:0:0:97:54:29:NM_020208.3(SLC6A20) c.583-196A>G,NM_020208.3(SLC6A20) c.583-196A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 45817418 rs758386 A G 544 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=148;DB;DBA=NA;PAF=A/0.05112,G/0.9489;PC=0.103;Gene=SLC6A20/NM_020208.3/1;CC=c.417T>C;ProtCh=p.C139=;VC=Silent;Gene=SLC6A20/NM_022405.3/0;CC=c.417T>C;ProtCh=p.C139=;VC=Silent;DM=SLC6A20/SNF;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:148:103:0:0:148:4742:544.41:261.14:283.26:1.00:1.00:1.00:60:38.9:0:0:62:78:29:NM_020208.3(SLC6A20) c.417T>C (p.(=)),NM_020208.3(SLC6A20) c.417T>C (p.(=)):0.95,0.95:0.96171,0.96171 3 45817481 . C . . NT END=45821499;NT GT ./. 3 45821593 . C . . NT END=45823573;NT GT ./. 3 45821624 rs2252547 T C 236 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.482,C/0.518;Gene=SLC6A20/NM_020208.3/1;CC=c.263-32A>G;VC=Intron;Gene=SLC6A20/NM_022405.3/0;CC=c.263-32A>G;VC=Intron;DM=SLC6A20/SNF;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:33:0:0:68:2039:236.17:67.82:168.35:1.00:1.00:1.00:60:42.2:0:0:112:37:24:NM_020208.3(SLC6A20) c.263-32A>G,NM_020208.3(SLC6A20) c.263-32A>G:0.51,0.51:0.560521,0.560521 3 45823716 . C . . NT END=45837789;NT GT ./. 3 45837886 rs2271615 G C 315 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=213;DB;DBA=NA;PAF=G/0.9115,C/0.08846;PC=0.994;Gene=SLC6A20/NM_020208.3/1;CC=c.26C>G;ProtCh=p.A9G;VC=Missense;Gene=SLC6A20/NM_022405.3/0;CC=c.26C>G;ProtCh=p.A9G;VC=Missense;DM=SLC6A20/SNF;DM=SLC6A20/SNF;DM=SLC6A20/SNF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:213:141:0:0:101,112:3310,3675:315.17,0.00:154.64,0.00:160.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.0,13.7:0,0:0,0:85,84:58,64:36,29:NM_020208.3(SLC6A20) c.26C>G (p.Ala9Gly),-:0.1,-:0.111564,- 3 45837916 . C . . NT END=45867805;NT GT ./. 3 45838013 rs2271616 G T 145 nt VT=SNV;PN=G;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.9191,T/0.08087;PC=0.997;Gene=SLC6A20/NM_020208.3/1;CC=c.-102C>A;VC=5UTR;Gene=SLC6A20/NM_022405.3/0;CC=c.-102C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:99:11:0:0:49,50:1574,1507:0.00,144.67:0.00,9.68:0.00,134.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,59.8:0,0:0,0:103,98:48,52:20,28:-,NM_020208.3(SLC6A20) c.-102C>A:-,0.09:-,NOT_FOUND 3 45867825 . C . . NT END=45868847;NT GT ./. 3 45868952 . C . . NT END=45869930;NT GT ./. 3 45870108 . C . . NT END=45872404;NT GT ./. 3 45872483 . C . . NT END=45872564;NT GT ./. 3 45872631 . C . . NT END=45874541;NT GT ./. 3 45874614 . C . . NT END=45875729;NT GT ./. 3 45875791 . C . . NT END=45877081;NT GT ./. 3 45877277 . C . . NT END=45879418;NT GT ./. 3 45879544 . C . . NT END=45883480;NT GT ./. 3 45883651 . G . . NT END=45896477;NT GT ./. 3 45896567 . C . . NT END=45936425;NT GT ./. 3 45936447 . G . . NT END=45939052;NT GT ./. 3 45939016 rs17764980 G A 120 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8908,A/0.1092;PC=0.089;Gene=LZTFL1/NM_001276378.1/1;CC=c.-138+15596C>T;VC=Intron;Gene=LZTFL1/NM_001276379.1/0;CC=c.27+15596C>T;VC=Intron;Gene=CCR9/NM_001256369.1/0;CC=c.-101-37G>A;VC=Intron;Gene=CCR9/NM_006641.3/0;CC=c.-15-3286G>A;VC=Intron;Gene=CCR9/NM_031200.2/1;CC=c.21+2570G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A,T:33:26:0:0:32,1:1047,9:119.53,0.20:69.20,0.20:50.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,153.0:0,0:0,0:27,92:120,58:19,0:NM_031200.2(CCR9) c.21+2570G>A,NM_031200.2(CCR9) c.21+2570G>A:0.06,0.06:NOT_FOUND,NOT_FOUND 3 45939139 . G . . NT END=45942301;NT GT ./. 3 45943391 . G . . NT END=45954611;NT GT ./. 3 45954639 . c . . NT END=45963256;NT GT ./. 3 45963333 . C . . NT END=45965147;NT GT ./. 3 45963497 rs7618618 G T 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.1034,T/0.8966;Gene=FYCO1/NM_024513.3/1;CC=c.4362-165C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:0:0:0:8:242:27.99:0.00:27.99:1.00:0.00:1.00:60:45.6:0:0:101:49:26:NM_024513.3(FYCO1) c.4362-165C>A,NM_024513.3(FYCO1) c.4362-165C>A:0.88,0.88:NOT_FOUND,NOT_FOUND 3 45965258 . C . . NT END=45972562;NT GT ./. 3 45972774 . C . . NT END=45977939;NT GT ./. 3 45977810 rs147246298 AAAG A 28 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AAAG/0.8924,A/0.1076;NP=283;Gene=FYCO1/NM_024513.3/1;CC=c.4040+127_4040+129delCTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:9:8:246:28.41:28.41:0.00:1.00:1.00:0.00:60:29.0:0:0:37:113:27:NM_024513.3(FYCO1) c.4040+127_4040+129delCTT,NM_024513.3(FYCO1) c.4040+127_4040+129delCTT:0.06,0.06:NOT_FOUND,NOT_FOUND 3 45977899 rs1873002 T C 81 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=3466;Gene=FYCO1/NM_024513.3/1;CC=c.4040+41A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:22:0:0:22:710:81.40:67.73:13.67:1.00:1.00:1.00:60:39.0:0:0:42:102:28:NM_024513.3(FYCO1) c.4040+41A>G,NM_024513.3(FYCO1) c.4040+41A>G:1,1:0.999692,0.999692 3 45978036 . C . . NT END=45979687;NT GT ./. 3 45979748 . C . . NT END=45987973;NT GT ./. 3 45979877 rs9875616 G A 59 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.1274,A/0.8726;Gene=FYCO1/NM_024513.3/1;CC=c.3945-1842C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:0:0:0:17:510:59.07:0.00:59.07:1.00:0.00:1.00:60:47.9:0:0:122:29:23:NM_024513.3(FYCO1) c.3945-1842C>T,NM_024513.3(FYCO1) c.3945-1842C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 3 45989003 . G . . NT END=45996740;NT GT ./. 3 45989044 rs2234358 T G 139 nt VT=SNV;PN=G;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.4489,G/0.5511;PC=0.001;Gene=FYCO1/NM_024513.3/1;CC=c.3944+7697A>C;VC=Intron;Gene=CXCR6/NM_006564.1/1;CC=c.*42T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:10:0:0:37:1215:139.09:19.61:119.48:1.00:1.00:1.00:60:47.4:0:0:107:41:26:NM_006564.1(CXCR6) c.*42T>G,NM_006564.1(CXCR6) c.*42T>G:0.54,0.54:0.454175,0.454175 3 45996501 rs4388012 A G 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8886,G/0.1114;PC=0.114;Gene=FYCO1/NM_024513.3/1;CC=c.3944+240T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:124:14.31:14.31:0.00:1.00:1.00:0.00:60:32.2:0:0:57:94:26:NM_024513.3(FYCO1) c.3944+240T>C,NM_024513.3(FYCO1) c.3944+240T>C:0.06,0.06:NOT_FOUND,NOT_FOUND 3 45996761 rs1463680 G A 232 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.1328,A/0.8672;PC=0.098;Gene=FYCO1/NM_024513.3/1;CC=c.3924C>T;ProtCh=p.L1308=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:65:51:0:0:65:2014:232.14:149.59:82.55:1.00:1.00:1.00:60:43.4:0:0:66:79:32:NM_024513.3(FYCO1) c.3924C>T (p.(=)),NM_024513.3(FYCO1) c.3924C>T (p.(=)):0.86,0.86:0.770952,0.770952 3 45996886 . C . . NT END=45999899;NT GT ./. 3 46000112 . C . . NT END=46000884;NT GT ./. 3 46000728 rs34324101 T G 59 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8932,G/0.1068;Gene=FYCO1/NM_024513.3/1;CC=c.3587+157A>C;VC=Intron;DM=FYCO1/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G,T:18:18:0:0:17,1:524,27:58.80,0.00:58.80,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:40.4,162.0:0,0:0,0:51,69:100,82:23,0:NM_024513.3(FYCO1) c.3587+157A>C,NM_024513.3(FYCO1) c.3587+157A>C:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46000870 rs13069079 G A 314 nt VT=SNV;PN=C;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.8932,A/0.1068;Gene=FYCO1/NM_024513.3/1;CC=c.3587+15C>T;VC=Intron;DM=FYCO1/FYVE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:85:72:0:0:85:2740:314.31:206.48:107.83:1.00:1.00:1.00:60:37.1:0:0:55:84:30:NM_024513.3(FYCO1) c.3587+15C>T,NM_024513.3(FYCO1) c.3587+15C>T:0.06,0.06:0.080348,0.080348 3 46001035 . C . . NT END=46003716;NT GT ./. 3 46001063 rs1532071 G A 154 nt VT=SNV;PN=G;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.4661,A/0.5339;Gene=FYCO1/NM_024513.3/1;CC=c.3438-29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:A:42:8:0:0:42:1336:153.62:17.30:136.32:1.00:1.00:1.00:60:40.7:0:0:100:50:28:NM_024513.3(FYCO1) c.3438-29C>T,NM_024513.3(FYCO1) c.3438-29C>T:0.52,0.52:0.438259,0.438259 3 46001227 rs76597151 G A,T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.889,A/0.111 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,T:4:0:0:0:3,1:72,10:8.25,0.88:0.00,0.00:8.25,0.88:0.85,0.00:0.00,0.00:0.85,0.00:60,60:38.7,106.0:0,0:0,0:93,64:57,87:43,0:NM_024513.3(FYCO1) c.3438-193C>T,NM_024513.3(FYCO1) c.3438-193C>A:0.06,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 46003496 rs35209528 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.8932,C/0.1068;Gene=FYCO1/NM_024513.3/1;CC=c.3437+221A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:273:31.56:31.56:0.00:1.00:1.00:0.00:60:63.6:0:0:53:98:24:NM_024513.3(FYCO1) c.3437+221A>G,NM_024513.3(FYCO1) c.3437+221A>G:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46003537 rs36039366 G A 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.889,A/0.111;Gene=FYCO1/NM_024513.3/1;CC=c.3437+180C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:332:37.97:37.97:0.00:1.00:1.00:0.00:60:56.9:0:0:80:71:33:NM_024513.3(FYCO1) c.3437+180C>T,NM_024513.3(FYCO1) c.3437+180C>T:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46003885 . C . . NT END=46005827;NT GT ./. 3 46005947 . C . . NT END=46005958;NT GT ./. 3 46006068 . C . . NT END=46006524;NT GT ./. 3 46006239 rs35855315 A G 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8904,G/0.1096;Gene=FYCO1/NM_024513.3/1;CC=c.3150+286T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:3:0:0:14:387:45.21:8.92:36.29:1.00:1.00:1.00:60:77.3:0:0:87:63:38:NM_024513.3(FYCO1) c.3150+286T>C,NM_024513.3(FYCO1) c.3150+286T>C:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46006269 rs35525815 C T 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.8904,T/0.1096;Gene=FYCO1/NM_024513.3/1;CC=c.3150+256G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:4:0:0:12:375:43.22:13.70:29.51:1.00:1.00:1.00:60:82.3:0:0:95:55:26:NM_024513.3(FYCO1) c.3150+256G>A,NM_024513.3(FYCO1) c.3150+256G>A:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46006341 rs17280623 C G 40 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8904,G/0.1096;PC=0.002;Gene=FYCO1/NM_024513.3/1;CC=c.3150+184G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:9:0:0:11:344:39.64:32.79:6.85:1.00:1.00:1.00:60:76.4:0:0:63:88:54:NM_024513.3(FYCO1) c.3150+184G>C,NM_024513.3(FYCO1) c.3150+184G>C:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46006618 . C . . NT END=46007768;NT GT ./. 3 46007702 rs1994490 T C 128 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.4671,C/0.5329;Gene=FYCO1/NM_024513.3/1;CC=c.3057+67A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:32:0:0:34:1117:127.91:110.12:17.80:1.00:1.00:1.00:60:62.1:0:0:37:111:29:NM_024513.3(FYCO1) c.3057+67A>G,NM_024513.3(FYCO1) c.3057+67A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 3 46007823 rs13079478 G T 429 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.8948,T/0.1052;PC=0.033;Gene=FYCO1/NM_024513.3/1;CC=c.3003C>A;ProtCh=p.N1001K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:118:104:0:0:118:3734:429.46:321.14:108.33:1.00:1.00:1.00:60:73.0:0:0:55:96:26:NM_024513.3(FYCO1) c.3003C>A (p.Asn1001Lys),NM_024513.3(FYCO1) c.3003C>A (p.Asn1001Lys):0.06,0.06:0.000923,0.000923 3 46007825 rs13059238 T C 456 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.8906,C/0.1094;PC=0.017;Gene=FYCO1/NM_024513.3/1;CC=c.3001A>G;ProtCh=p.N1001D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:120:105:0:0:120:3994:456.43:346.66:109.77:1.00:1.00:1.00:60:74.2:0:0:58:92:28:NM_024513.3(FYCO1) c.3001A>G (p.Asn1001Asp),NM_024513.3(FYCO1) c.3001A>G (p.Asn1001Asp):0.06,0.06:0.005767,0.005767 3 46008087 rs13079869 G A 724 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=199;DB;DBA=NA;PAF=G/0.8944,A/0.1056;Gene=FYCO1/NM_024513.3/1;CC=c.2739C>T;ProtCh=p.C913=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:199:124:0:0:199:6289:723.50:356.28:367.23:1.00:1.00:1.00:60:39.0:0:0:77:72:34:NM_024513.3(FYCO1) c.2739C>T (p.(=)),NM_024513.3(FYCO1) c.2739C>T (p.(=)):0.06,0.06:0.081193,0.081193 3 46009487 rs33910087 G A 560 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=164;DB;DBA=NA;PAF=G/0.8918,A/0.1082;Gene=FYCO1/NM_024513.3/1;CC=c.1339C>T;ProtCh=p.R447C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:164:103:0:0:160,4:4857,38:559.86,0.77:306.20,0.26:253.66,0.51:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,71.8:0,0:0,0:75,64:70,86:40,25:NM_024513.3(FYCO1) c.1339C>T (p.Arg447Cys),NM_024513.3(FYCO1) c.1339C>T (p.Arg447Cys):0.06,0.06:0.083346,0.083346 3 46009864 rs3733100 C G 556 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=157;DB;DBA=NA;PAF=C/0.4671,G/0.5329;PC=0.206;Gene=FYCO1/NM_024513.3/1;CC=c.962G>C;ProtCh=p.G321A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:157:115:0:0:1,156:23,4847:0.00,555.96:0.00,319.79:0.00,236.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,42.8:0,0:0,0:124,49:27,99:0,32:NM_024513.3(FYCO1) c.962G>C (p.Gly321Ala),NM_024513.3(FYCO1) c.962G>C (p.Gly321Ala):0.52,0.52:0.44318,0.44318 3 46010007 rs13071283 T C 759 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=201;DB;DBA=NA;PAF=T/0.89,C/0.11;PC=0.050;Gene=FYCO1/NM_024513.3/1;CC=c.819A>G;ProtCh=p.Q273=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:201:132:0:0:200,1:6653,9:758.64,0.00:377.03,0.00:381.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.0,143.0:0,0:0,0:82,49:67,102:36,0:NM_024513.3(FYCO1) c.819A>G (p.(=)),NM_024513.3(FYCO1) c.819A>G (p.(=)):0.06,0.06:0.084653,0.084653 3 46010077 rs4683158 C T 799 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=209;DB;DBA=NA;PAF=C/0.07188,A/.,G/.,T/0.9281;PC=1.000;Gene=FYCO1/NM_024513.3/1;CC=c.749G>A;ProtCh=p.R250Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:209:130:0:0:209:6998:799.29:375.32:423.97:1.00:1.00:1.00:60:61.9:0:0:80:66:36:NM_024513.3(FYCO1) c.749G>A (p.Arg250Gln),NM_024513.3(FYCO1) c.749G>A (p.Arg250Gln):0.92,0.92:0.832078,0.832078 3 46010196 . C . . NT END=46011166;NT GT ./. 3 46011258 . C . . NT END=46014579;NT GT ./. 3 46011436 rs17214952 A G 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8904,G/0.1096;Gene=FYCO1/NM_024513.3/1;CC=c.540-179T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:301:34.39:0.00:34.39:1.00:0.00:1.00:60:37.0:0:0:98:53:46:NM_024513.3(FYCO1) c.540-179T>C,NM_024513.3(FYCO1) c.540-179T>C:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46014545 rs41289622 T G 209 nt VT=SNV;PN=T;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.8946,G/0.1054;Gene=FYCO1/NM_024513.3/1;CC=c.539+35A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:G:56:49:0:0:56:1825:209.04:165.68:43.36:1.00:1.00:1.00:60:43.7:0:0:45:101:24:NM_024513.3(FYCO1) c.539+35A>C,NM_024513.3(FYCO1) c.539+35A>C:0.06,0.06:0.080424,0.080424 3 46014724 . C . . NT END=46016730;NT GT ./. 3 46016599 rs3821884 T G 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.3728,G/0.6272;Gene=FYCO1/NM_024513.3/1;CC=c.395+132A>C;VC=Intron;DM=FYCO1/RUN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:364:41.65:41.65:0.00:1.00:1.00:0.00:60:38.2:0:0:70:80:21:NM_024513.3(FYCO1) c.395+132A>C,NM_024513.3(FYCO1) c.395+132A>C:0.59,0.59:NOT_FOUND,NOT_FOUND 3 46016838 . C . . NT END=46021196;NT GT ./. 3 46021218 rs4682801 G T 362 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.237,T/0.763;PC=0.414;Gene=FYCO1/NM_024513.3/1;CC=c.267C>A;ProtCh=p.R89=;VC=Silent;DM=FYCO1/RUN GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:98:75:0:0:98:3155:362.15:245.58:116.57:1.00:1.00:1.00:60:40.3:0:0:64:87:28:NM_024513.3(FYCO1) c.267C>A (p.(=)),NM_024513.3(FYCO1) c.267C>A (p.(=)):0.79,0.79:0.658081,0.658081 3 46021323 . C . . NT END=46023061;NT GT ./. 3 46022833 rs36122610 G A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8954,A/0.1046;Gene=FYCO1/NM_024513.3/1;CC=c.162+229C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:181:20.96:20.96:0.00:1.00:1.00:0.00:60:41.2:0:0:30:120:7:NM_024513.3(FYCO1) c.162+229C>T,NM_024513.3(FYCO1) c.162+229C>T:0.06,0.06:NOT_FOUND,NOT_FOUND 3 46023169 . C . . NT END=46026347;NT GT ./. 3 46026403 . G . . NT END=46062437;NT GT ./. 3 46063329 rs2230322 T C 450 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.7672,C/0.2328;PC=0.131;Gene=XCR1/NM_001024644.1/0;CC=c.111A>G;ProtCh=p.L37=;VC=Silent;Gene=XCR1/NM_005283.2/1;CC=c.111A>G;ProtCh=p.L37=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:118:58:0:0:118:3937:449.84:171.73:278.11:1.00:1.00:1.00:60:37.6:0:0:87:56:34:NM_005283.2(XCR1) c.111A>G (p.(=)),NM_005283.2(XCR1) c.111A>G (p.(=)):0.17,0.17:0.20875,0.20875 3 46063440 . C . . NT END=46244736;NT GT ./. 3 46064618 rs60019065 G C 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7672,C/0.2328;PC=0.008;Gene=XCR1/NM_001024644.1/0;CC=c.-31-1148C>G;VC=Intron;Gene=XCR1/NM_005283.2/1;CC=c.-153-849C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:206:23.46:23.46:0.00:1.00:1.00:0.00:60:66.2:0:0:120:31:8:NM_005283.2(XCR1) c.-153-849C>G,NM_005283.2(XCR1) c.-153-849C>G:0.17,0.17:NOT_FOUND,NOT_FOUND 3 46064626 rs71327009 C G 25 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.8878,G/0.1122;PC=0.303;Gene=XCR1/NM_001024644.1/0;CC=c.-31-1156G>C;VC=Intron;Gene=XCR1/NM_005283.2/1;CC=c.-153-857G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:7:0:0:7:221:25.44:25.44:0.00:1.00:1.00:0.00:60:62.9:0:0:127:24:9:NM_005283.2(XCR1) c.-153-857G>C,NM_005283.2(XCR1) c.-153-857G>C:0.08,0.08:NOT_FOUND,NOT_FOUND 3 46184620 rs13083881 C G 50 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.9075,G/0.09245;PC=0.992 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:23:9:0:0:8,15:240,497:0.00,50.42:0.00,15.79:0.00,34.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.2,101.2:0,0:0,0:110,66:39,85:25,33:-,chr3 g.46184619C>G (intergenic):-,0.06:-,NOT_FOUND 3 46184639 rs13084175 G C 44 nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.8776,C/0.1224;PC=0.881 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:20:9:0:0:13,7:434,237:43.95,0.00:18.59,0.00:25.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:111.5,4.9:0,0:0,0:64,129:87,22:39,16:chr3 g.46184638G>C (intergenic),-:0.08,-:NOT_FOUND,- 3 46184680 rs13083914 C T 45 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.878,T/0.122;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:C,T:18:8:0:0:5,13:164,435:0.00,45.08:0.00,15.95:0.00,29.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,103.2:0,0:0,0:64,92:86,59:40,34:-,chr3 g.46184679C>T (intergenic):-,0.08:-,NOT_FOUND 3 46184725 rs13084057 C G 35 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.8776,G/0.1224;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:19:7:0:0:7,12:232,345:0.00,34.76:0.00,7.26:0.00,27.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,98.8:0,0:0,0:30,108:121,43:23,38:-,chr3 g.46184724C>G (intergenic):-,0.08:-,NOT_FOUND 3 46245805 . C . . NT END=46305894;NT GT ./. 3 46245824 . TA T 21 idl,rn VT=DEL;SST=Single;DP=52;NP=8;PC=0.024;Gene=CCR1/NM_001295.2/1;CC=c.-11-10delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:TA,I,T:49:18:4:12:36,4,9:952,106,354:0.00,6.83,20.90:0.00,-0.28,12.27:0.00,7.11,8.64:0.00,0.00,0.98:0.00,0.00,0.93:0.00,0.00,1.00:60,60,60:22.0,34.0,21.2:0,0,3:0,0,0:125,94,92:24,56,58:19,18,13:-,NM_001295.2(CCR1) c.-11-10delT:-,NOT_FOUND:-,NOT_FOUND 3 46305947 . G . . NT END=46306638;NT GT ./. 3 46307718 . G . . NT END=46399018;NT GT ./. 3 46310115 rs200112416 AACACAGACACACAC A 10 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=62;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:AACACAGACACACAC,A:4:3:0:4:1,3:33,115:0.00,9.87:0.00,6.71:0.00,3.16:0.00,0.78:0.00,0.94:0.00,0.87:60,70:0.0,82.0:0,1:0,0:115,48:36,102:0,22:-,chr3 g.46310116_46310129delACACAGACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 46399764 rs200491743 T A 216 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=164;DB;DBA=NA;PAF=NA;NP=2;PC=1.000;Gene=CCR2/NM_001123396.1/0;CC=c.746T>A;ProtCh=p.M249K;VC=Missense;Gene=CCR2/NM_001123041.2/1;CC=c.746T>A;ProtCh=p.M249K;VC=Missense;DM=CCR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:164:98:0:0:71,93:2305,2892:215.68,0.00:111.23,0.00:104.44,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,37.5:0,0:0,0:73,59:72,87:40,39:NM_001123041.2(CCR2) c.746T>A (p.Met249Lys),-:NOT_FOUND,-:0.000583,- 3 46399798 rs1799865 T C 265 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=160;DB;DBA=NA;PAF=T/0.6715,C/0.3285;PC=0.270;Gene=CCR2/NM_001123396.1/0;CC=c.780T>C;ProtCh=p.N260=;VC=Silent;Gene=CCR2/NM_001123041.2/1;CC=c.780T>C;ProtCh=p.N260=;VC=Silent;DM=CCR2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:160:102:0:0:83,77:2736,2482:265.03,0.00:133.53,0.00:131.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.4,31.8:0,0:0,0:74,65:74,86:28,42:NM_001123041.2(CCR2) c.780T>C (p.(=)),-:0.32,-:0.327961,- 3 46400869 . T . . NT END=46401167;NT GT ./. 3 46401032 rs3138042 A G 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6713,G/0.3287;PC=0.008;Gene=CCR2/NM_001123041.2/1;CC=c.942-136A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:22:0:0:10,18:317,588:0.00,59.46:0.00,49.35:0.00,10.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,37.7:0,0:0,0:71,52:80,99:43,30:-,NM_001123041.2(CCR2) c.942-136A>G:-,0.32:-,NOT_FOUND 3 46401352 . A . . NT END=46414393;NT GT ./. 3 46415453 . C . . NT END=46449161;NT GT ./. 3 46449186 . G . . NT END=46449558;NT GT ./. 3 46449221 . T G 49 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;PC=0.001;Gene=CCRL2/NM_003965.4/1;CC=c.-13+228T>G;VC=Intron;Gene=CCRL2/NM_001130910.1/0;CC=c.24+36T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:38:17:0:0:16,22:527,724:49.09,0.00:10.82,0.00:38.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,1.3:0,0:0,0:84,119:51,28:29,15:NM_001130910.1(CCRL2) c.24+36T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 46449978 rs11266744 A C 196 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.6623,C/0.3377;Gene=CCRL2/NM_003965.4/1;CC=c.408A>C;ProtCh=p.G136=;VC=Silent;Gene=CCRL2/NM_001130910.1/0;CC=c.444A>C;ProtCh=p.G148=;VC=Silent;DM=CCRL2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:105:68:0:1:45,59,1:1400,1989,11:0.00,196.17,-0.07:0.00,100.08,0.02:0.00,96.09,-0.09:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.7,44.0,58.0:0,0,0:0,0,0:81,72,129:69,72,22:29,37,0:-,NM_001130910.1(CCRL2) c.444A>C (p.(=)):-,0.36:-,0.296549 3 46450070 rs3204849 T A 158 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=T/0.6512,A/0.3488;Gene=CCRL2/NM_003965.4/1;CC=c.500T>A;ProtCh=p.F167Y;VC=Missense;Gene=CCRL2/NM_001130910.1/0;CC=c.536T>A;ProtCh=p.F179Y;VC=Missense;DM=CCRL2/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:115:57:0:0:53,62:1676,1953:158.40,0.00:63.78,0.00:94.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.7,6.9:0,0:0,0:75,63:75,85:32,35:NM_001130910.1(CCRL2) c.536T>A (p.Phe179Tyr),-:0.37,-:0.308449,- 3 46450606 . A . . NT END=46477685;NT GT ./. 3 46477721 . C . . NT END=46479430;NT GT ./. 3 46479208 rs1034383 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.2979,G/0.7021;Gene=LTF/NM_001199149.1/0;CC=c.1966+223T>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.2098+223T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,G:5:5:0:0:2,3:65,88:0.00,8.77:0.00,8.77:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:4.5,37.3:0,0:0,0:32,26:118,125:30,2:-,NM_002343.3(LTF) c.2098+223T>C:-,0.69:-,NOT_FOUND 3 46479621 . C . . NT END=46480786;NT GT ./. 3 46479668 rs3213479 A G 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.5601,G/0.4399;Gene=LTF/NM_001199149.1/0;CC=c.1777-48T>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1909-48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:19:0:0:29,23:916,758:0.00,71.27:0.00,24.15:0.00,47.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,40.1:0,0:0,0:105,97:41,49:23,24:-,NM_002343.3(LTF) c.1909-48T>C:-,0.44:-,0.355298 3 46479830 rs3213480 G A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.4225,A/0.5775;Gene=LTF/NM_001199149.1/0;CC=c.1777-210C>T;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1909-210C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,G:9:0:0:0:6,3:125,67:12.77,0.00:0.00,0.00:12.77,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:31.8,8.3:0,0:0,0:88,113:62,38:15,14:NM_002343.3(LTF) c.1909-210C>T,-:0.56,-:NOT_FOUND,- 3 46480958 rs2073495 C G 144 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=NA;Gene=LTF/NM_001199149.1/0;CC=c.1605G>C;ProtCh=p.E535D;VC=Missense;Gene=LTF/NM_002343.4/1;CC=c.1737G>C;ProtCh=p.E579D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:123:60:0:0:74,49:2392,1562:0.00,143.67:0.00,42.26:0.00,101.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,35.7:0,0:0,0:95,96:54,54:26,36:-,NM_002343.3(LTF) c.1737G>C (p.Glu579Asp):-,0.28:-,0.257804 3 46480972 . C . . NT END=46482906;NT GT ./. 3 46482667 rs201448526 A AGT 8 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.511,AGT/0.489,AGTGT/.;DB;DBA=NA;PAF=NA;NP=31;PC=0.836;Gene=LTF/NM_001199149.1/0;CC=c.1591+239_1591+240insAC;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1723+239_1723+240insAC;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,AGT:6:6:3:0:3,3:89,83:0.00,7.92:0.00,7.92:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:34.3,10.3:0,0:0,0:106,59:45,92:39,11:-,NM_002343.3(LTF) c.1723+239_1723+240insAC:-,NOT_FOUND:-,NOT_FOUND 3 46482975 . C . . NT END=46484931;NT GT ./. 3 46484898 rs7615975 T G 247 nt VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.08007,G/0.9199;Gene=LTF/NM_001199149.1/0;CC=c.1523+34A>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1655+34A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:184:G,T:68:53:0:0:67,1:2168,9:247.01,0.00:148.43,0.00:98.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,118.0:0,0:0,0:52,29:99,122:28,0:NM_002343.3(LTF) c.1655+34A>C,NM_002343.3(LTF) c.1655+34A>C:0.89,0.89:0.828435,0.828435 3 46484964 rs1042073 G A 104 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.5511,A/0.4489;Gene=LTF/NM_001199149.1/0;CC=c.1491C>T;ProtCh=p.N497=;VC=Silent;Gene=LTF/NM_002343.4/1;CC=c.1623C>T;ProtCh=p.N541=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:69:0:0:34,57:1135,1815:103.61,0.00:48.19,0.00:55.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.3,20.0:0,0:0,0:96,64:49,84:29,33:NM_002343.3(LTF) c.1623C>T (p.(=)),-:0.44,-:0.334744,- 3 46485074 . C . . NT END=46486771;NT GT ./. 3 46486928 . C . . NT END=46487930;NT GT ./. 3 46487003 rs2269435 A G 67 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.5477,G/0.4523;Gene=LTF/NM_001199149.1/0;CC=c.1226-76T>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1358-76T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:47:17:0:0:26,21:784,712:0.00,67.23:0.00,14.11:0.00,53.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,45.0:0,0:0,0:104,116:38,35:24,24:-,NM_002343.3(LTF) c.1358-76T>C:-,0.44:-,NOT_FOUND 3 46487671 rs6787643 G A 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5477,A/0.4523;Gene=LTF/NM_001199149.1/0;CC=c.1225+260C>T;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1357+260C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:5:0:0:5:139:16.21:16.21:0.00:1.00:1.00:0.00:60:72.4:0:0:49:102:24:NM_002343.3(LTF) c.1357+260C>T,NM_002343.3(LTF) c.1357+260C>T:0.44,0.44:NOT_FOUND,NOT_FOUND 3 46487750 rs6776504 A G 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.5475,G/0.4525;Gene=LTF/NM_001199149.1/0;CC=c.1225+181T>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1357+181T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,G,T:10:10:0:0:4,5,1:128,119,8:0.00,11.54,0.21:0.00,11.54,0.21:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:38.8,70.2,93.0:0,0,0:0,0,0:34,104,99:116,47,51:9,33,0:-,NM_002343.3(LTF) c.1357+181T>C:-,0.44:-,NOT_FOUND 3 46487775 rs4682816 C G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.5321,G/0.4679;Gene=LTF/NM_001199149.1/0;CC=c.1225+156G>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1357+156G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:C,G:10:10:0:0:5,5:132,151:0.00,14.48:0.00,14.48:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:54.6,37.2:0,0:0,0:96,56:55,94:33,18:-,NM_002343.3(LTF) c.1357+156G>C:-,0.45:-,NOT_FOUND 3 46487787 rs67090373 TTTGCACCCTTAAAATTA T 15 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TTTGCACCCTTAAAATTA/0.5313,T/0.4687;DB;DBA=NA;PAF=TTTGCACCCTTAAAATTA/0.5313,T/0.4687;NP=1070;Gene=LTF/NM_001199149.1/0;CC=c.1225+127_1225+143delTAATTTTAAGGGTGCAA;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1357+127_1357+143delTAATTTTAAGGGTGCAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:TTTGCACCCTTAAAATTA,T:11:11:0:5:6,5:188,157:0.00,14.79:0.00,14.79:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:45.5,37.2:0,0:0,0:73,68:78,82:51,18:-,NM_002343.3(LTF) c.1357+127_1357+143delTAATTTTAAGGGTGCAA:-,NOT_FOUND:-,NOT_FOUND 3 46487985 . C . . NT END=46488798;NT GT ./. 3 46488854 rs2239692 T C 84 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.8163,C/0.1837;Gene=LTF/NM_001199149.1/0;CC=c.1116A>G;ProtCh=p.G372=;VC=Silent;Gene=LTF/NM_002343.4/1;CC=c.1248A>G;ProtCh=p.G416=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:46:0:0:28,37:896,1229:83.65,0.00:30.55,0.00:53.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,5.9:0,0:0,0:63,83:67,56:27,26:NM_002343.3(LTF) c.1248A>G (p.(=)),-:0.17,-:0.139021,- 3 46488890 . C . . NT END=46490353;NT GT ./. 3 46489015 rs743659 A G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.5827,G/0.4173;Gene=LTF/NM_001199149.1/0;CC=c.1081-126T>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1213-126T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G:16:0:0:0:10,6:297,193:0.00,17.58:0.00,0.00:0.00,17.58:0.00,0.95:0.00,0.00:0.00,0.95:60,60:4.1,39.5:0,0:0,0:124,75:26,75:15,28:-,NM_002343.3(LTF) c.1213-126T>C:-,0.39:-,NOT_FOUND 3 46490250 rs1475967 A G 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.3844,G/0.6156;Gene=LTF/NM_001199149.1/0;CC=c.1080+104T>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1212+104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:53:0:0:26,28:772,758:0.00,72.82:0.00,70.54:0.00,2.28:0.00,1.00:0.00,1.00:0.00,0.99:60,60:6.7,48.0:0,0:0,0:37,49:112,101:18,26:-,NM_002343.3(LTF) c.1212+104T>C:-,0.57:-,NOT_FOUND 3 46490366 rs2230895 G A 254 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=169;DB;DBA=NA;PAF=G/0.8391,A/0.1609;PC=0.034;Gene=LTF/NM_001199149.1/0;CC=c.1068C>T;ProtCh=p.I356=;VC=Silent;Gene=LTF/NM_002343.4/1;CC=c.1200C>T;ProtCh=p.I400=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:169:133:0:0:82,1,86:2649,13,2700:253.53,-0.10,0.00:163.27,-0.13,0.00:90.27,0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:53.1,96.0,8.8:0,0,0:0,0,0:63,99,58:80,48,86:37,0,28:NM_002343.3(LTF) c.1200C>T (p.(=)),-:0.17,-:0.115882,- 3 46490474 rs2230894 G A 258 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=186;DB;DBA=NA;PAF=NA;Gene=LTF/NM_001199149.1/0;CC=c.960C>T;ProtCh=p.V320=;VC=Silent;Gene=LTF/NM_002343.4/1;CC=c.1092C>T;ProtCh=p.V364=;VC=Silent;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:186:118:0:0:88,1,97:2720,12,3131:258.25,-0.13,0.00:121.23,-0.00,0.00:137.02,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:51.4,44.0,8.0:0,0,0:0,0,0:88,105,62:53,46,84:36,0,37:NM_002343.3(LTF) c.1092C>T (p.(=)),-:0.21,-:0.168359,- 3 46490509 . C . . NT END=46491343;NT GT ./. 3 46490733 rs11384046 T TC 42 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=143;Gene=LTF/NM_001199149.1/0;CC=c.926-226dupG;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.1058-226dupG;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:T,TC:14:0:13:0:1,13:13,376:0.00,42.31:0.00,0.00:0.00,42.31:0.00,1.00:0.00,0.00:0.00,1.00:60,60:78.0,21.1:1,0:0,0:6,104:145,47:0,19:NM_002343.3(LTF) c.1058-226_1058-225insG,NM_002343.3(LTF) c.1058-226_1058-225insG:1,1:NOT_FOUND,NOT_FOUND 3 46491519 . C . . NT END=46491984;NT GT ./. 3 46491948 rs6774882 T A 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.7784,A/0.2216;Gene=LTF/NM_001199149.1/0;CC=c.750+37A>T;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.882+37A>T;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:50:46:0:0:26,24:806,741:77.92,0.00:52.11,0.00:25.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,2.5:0,0:0,0:61,67:88,83:31,32:NM_002343.3(LTF) c.882+37A>T,-:0.21,-:0.168927,- 3 46492164 . C . . NT END=46495794;NT GT ./. 3 46495716 rs17135 C T 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.8564,T/0.1436;Gene=LTF/NM_001199149.1/0;CC=c.571+79G>A;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.703+79G>A;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:28:0:0:11,18:383,548:0.00,55.02:0.00,46.21:0.00,8.81:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.2,34.2:0,0:0,0:60,21:91,129:18,20:-,NM_002343.3(LTF) c.703+79G>A:-,0.15:-,NOT_FOUND 3 46495851 . C . . NT END=46496784;NT GT ./. 3 46496642 rs6776621 C G 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8528,G/0.1472;Gene=LTF/NM_001199149.1/0;CC=c.515+143G>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.647+143G>C;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:C,G:10:10:0:0:2,8:58,257:0.00,27.34:0.00,27.34:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.5,35.6:0,0:0,0:12,30:139,121:2,7:-,NM_002343.3(LTF) c.647+143G>C:-,0.15:-,NOT_FOUND 3 46496933 . C . . NT END=46497285;NT GT ./. 3 46497469 . C . . NT END=46497779;NT GT ./. 3 46497675 rs3796377 A G 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.8524,G/0.1476;Gene=LTF/NM_001199149.1/0;CC=c.184+105T>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.316+105T>C;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:16:0:0:13,9:388,284:0.00,26.25:0.00,24.09:0.00,2.15:0.00,1.00:0.00,1.00:0.00,0.95:60,60:1.3,52.7:0,0:0,0:62,88:89,61:29,41:-,NM_002343.3(LTF) c.316+105T>C:-,0.15:-,NOT_FOUND 3 46497723 rs4683227 C G 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8526,G/0.1474;PC=0.001;Gene=LTF/NM_001199149.1/0;CC=c.184+57G>C;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.316+57G>C;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:33:0:0:18,19:608,601:0.00,58.00:0.00,46.46:0.00,11.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,45.7:0,0:0,0:64,38:86,110:40,23:-,NM_002343.3(LTF) c.316+57G>C:-,0.15:-,NOT_FOUND 3 46497889 . C . . NT END=46501145;NT GT ./. 3 46500895 rs59952204 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8562,A/0.1438;PC=0.001;Gene=LTF/NM_001199149.1/0;CC=c.75+251C>T;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.207+251C>T;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:172:A,G:12:12:0:0:6,6:178,164:17.06,0.00:17.06,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:52.0,11.5:0,0:0,0:54,51:96,99:20,16:NM_002343.3(LTF) c.207+251C>T,-:0.15,-:NOT_FOUND,- 3 46501100 rs17078878 C A 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.8562,A/0.1438;Gene=LTF/NM_001199149.1/0;CC=c.75+46G>T;VC=Intron;Gene=LTF/NM_002343.4/1;CC=c.207+46G>T;VC=Intron;DM=LTF/Transferrin;DM=LTF/Transferrin;DM=LTF/Transferrin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:53:43:0:0:22,31:612,982:55.98,0.00:38.91,0.00:17.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.2,25.7:0,0:0,0:54,59:96,91:20,30:NM_002343.3(LTF) c.207+46G>T,-:0.15,-:0.111179,- 3 46501213 rs1126478 T C 87 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=91;DB;DBA=NA;PAF=T/0.3726,C/0.6274;Gene=LTF/NM_001199149.1/0;CC=c.8A>G;ProtCh=p.K3R;VC=Missense;Gene=LTF/NM_002343.4/1;CC=c.140A>G;ProtCh=p.K47R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:91:67:0:0:31,1,59:972,7,1891:86.80,-0.23,0.00:58.71,-0.10,0.00:28.09,-0.13,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:61.1,86.0,6.4:0,0,0:0,0,0:65,57,67:83,94,74:40,0,28:NM_002343.3(LTF) c.140A>G (p.Lys47Arg),-:0.59,-:0.5,- 3 46501268 rs1126477 C T 100 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=C/0.5304,T/0.4696;Gene=LTF/NM_001199149.1/0;CC=c.-48G>A;VC=5UTR;Gene=LTF/NM_002343.4/1;CC=c.85G>A;ProtCh=p.A29T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:91:64:0:0:1,56,34:13,1815,1095:-0.06,0.00,99.82:-0.13,0.00,51.76:0.07,0.00,48.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.0,7.2,54.6:0,0,0:0,0,0:49,89,52:102,56,92:0,26,26:-,NM_002343.3(LTF) c.85G>A (p.Ala29Thr):-,0.43:-,0.396817 3 46501284 rs76787706 C CCTT 294 PASS VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=C/0.009585,CCTT/0.9904,CTCT/.;DB;DBA=NA;PAF=NA;NP=3309;Gene=LTF/NM_001199149.1/0;CC=c.-65_-64insAAG;VC=5UTR;Gene=LTF/NM_002343.4/1;CC=c.68_69insAAG;ProtCh=p.R23_S24insR;VC=InFrameIns;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:63:C,CCTT:88:55:83:0:5,83:163,2630:0.00,294.23:0.00,146.36:0.00,147.87:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.2,24.7:0,0:0,0:142,78:3,67:1,30:NM_002343.3(LTF) c.68_69insAAG (p.Arg23dup),NM_002343.3(LTF) c.68_69insAAG (p.Arg23dup):0.99,0.99:0.979553,0.979553 3 46501310 . C . . NT END=46504933;NT GT ./. 3 46505162 . C . . NT END=46506314;NT GT ./. 3 46505266 rs6441996 G C 28 nt VT=SNV;PN=G;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.5749,C/0.4251;PC=0.006;Gene=LTF/NM_002343.4/1;CC=c.43+1049C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:29:0:0:0:10,19:310,600:27.66,0.00:0.00,0.00:27.66,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.0,16.9:0,0:0,0:126,108:24,41:15,27:NM_002343.3(LTF) c.43+1049C>G,-:0.41,-:NOT_FOUND,- 3 46506358 . G . . NT END=46539552;NT GT ./. 3 46539523 rs2037391 G A 76 nt VT=SNV;PN=C;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.5944,A/0.4056;Gene=RTP3/NM_031440.1/1;CC=c.-30G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:51:0:0:25,36:820,1107:76.04,0.00:55.38,0.00:20.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.6,11.4:0,0:0,0:53,51:97,89:25,37:NM_031440.1(RTP3) c.-30G>A,-:0.4,-:0.354144,- 3 46539708 . G . . NT END=46541845;NT GT ./. 3 46542390 . g . . NT END=46560503;NT GT ./. 3 46560554 . C . . NT END=46563011;NT GT ./. 3 46563149 . C . . NT END=46568915;NT GT ./. 3 46569072 . C . . NT END=46571394;NT GT ./. 3 46571541 . C . . NT END=46574262;NT GT ./. 3 46574094 rs72236846 CA C 14 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CA/0.6534,C/0.3466;NP=378;PC=0.160;Gene=LRRC2/NM_024512.4/1;CC=c.627+168delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:CA,C:11:11:0:5:6,5:207,151:0.00,14.19:0.00,14.19:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,70:0.0,1.6:0,0:0,0:50,60:100,91:45,60:-,NM_024512.4(LRRC2) c.627+168delT:-,NOT_FOUND:-,NOT_FOUND 3 46574256 rs9849400 C T 86 nt VT=SNV;PN=T;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.6534,T/0.3466;Gene=LRRC2/NM_024512.4/1;CC=c.627+7G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:59:0:0:40,28:1390,922:0.00,85.55:0.00,53.52:0.00,32.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,34.5:0,0:0,0:48,62:92,82:31,19:-,NM_024512.4(LRRC2) c.627+7G>A:-,0.32:-,0.324823 3 46574400 . C . . NT END=46580534;NT GT ./. 3 46574418 rs1402152 A G 61 nt VT=SNV;PN=T;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.6518,G/0.3482;PC=0.002;Gene=LRRC2/NM_024512.4/1;CC=c.491-19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:25:0:0:41,21:1290,681:0.00,60.88:0.00,17.53:0.00,43.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,39.5:0,0:0,0:103,99:43,43:27,24:-,NM_024512.4(LRRC2) c.491-19T>C:-,0.32:-,0.325235 3 46580222 rs1520493 C T 6 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4317,T/0.5683;Gene=LRRC2/NM_024512.4/1;CC=c.490+313G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:4:4:0:0:2,2:66,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:22.0,85.0:0,0:0,0:28,28:123,122:25,12:-,NM_024512.4(LRRC2) c.490+313G>A:-,0.54:-,NOT_FOUND 3 46580324 rs7651745 G A 37 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.009385,A/0.9906;NP=1326;Gene=LRRC2/NM_024512.4/1;CC=c.490+211C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:A:10:10:0:0:10:325:37.27:37.27:0.00:1.00:1.00:0.00:60:44.0:0:0:63:87:27:NM_024512.4(LRRC2) c.490+211C>T,NM_024512.4(LRRC2) c.490+211C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 3 46580591 rs17078944 G T 73 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.7135,A/.,T/0.2865;PC=0.969;Gene=LRRC2/NM_024512.4/1;CC=c.434C>A;ProtCh=p.A145E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:56:33:0:0:1,31,24:12,955,781:0.01,0.00,73.19:0.15,0.00,43.38:-0.14,0.00,29.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:117.0,10.5,39.5:0,0,0:0,0,0:109,88,76:34,61,74:0,43,42:-,NM_024512.4(LRRC2) c.434C>A (p.Ala145Glu):-,0.28:-,0.272951 3 46580692 . C . . NT END=46586535;NT GT ./. 3 46586744 . C . . NT END=46592956;NT GT ./. 3 46592726 rs6810363 C A 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.4006,A/0.5994;Gene=LRRC2/NM_024512.4/1;CC=c.125+231G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:186:21.46:21.46:0.00:1.00:1.00:0.00:60:42.0:0:0:21:129:15:NM_024512.4(LRRC2) c.125+231G>T,NM_024512.4(LRRC2) c.125+231G>T:0.63,0.63:NOT_FOUND,NOT_FOUND 3 46593082 . T . . NT END=46619459;NT GT ./. 3 46593241 rs58302637 C T 8 idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=3;PC=0.001;Gene=LRRC2/NM_024512.4/1;CC=c.-19-141G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:A,C,T,I:18:0:2:0:1,13,3,1:12,398,100,62:0.21,0.00,8.06,2.20:0.00,0.00,0.00,0.00:0.21,0.00,8.06,2.20:0.00,0.00,0.51,0.00:0.00,0.00,0.00,0.00:0.00,0.00,0.51,0.00:60,60,70,60:118.0,18.8,94.0,21.0:0,0,3,1:0,0,0,0:125,138,64,77:24,11,77,73:0,5,6,14:-,NM_024512.4(LRRC2) c.-19-141G>A:-,NOT_FOUND:-,NOT_FOUND 3 46614677 rs373896373 A AACAC 7 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=17;NP=3;NP=74;PC=0.002;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:AACAC:2:2:5:0:2:162:6.86:3.48:3.38:0.46:0.70:0.80:60:37.0:3:0:84:67:6:NM_001174136.1(TDGF1) c.-42-u1368_-42-u1367insACAC,NM_001174136.1(TDGF1) c.-42-u1368_-42-u1367insACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 46619495 . G . . NT END=46620584;NT GT ./. 3 46620614 rs11130097 T C 313 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=86;DB;DBA=NA;PAF=T/0.493,C/0.507;Gene=TDGF1/NM_001174136.1/1;CC=c.17T>C;ProtCh=p.V6A;VC=Missense;Gene=TDGF1/NM_003212.3/0;CC=c.65T>C;ProtCh=p.V22A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:86:68:0:0:86:2723:313.04:202.92:110.11:1.00:1.00:1.00:60:41.0:0:0:73:72:36:NM_001174136.1(TDGF1) c.17T>C (p.Val6Ala),NM_001174136.1(TDGF1) c.17T>C (p.Val6Ala):0.47,0.47:0.517146,0.517146 3 46620638 . G . . NT END=46620721;NT GT ./. 3 46620857 . G . . NT END=46621228;NT GT ./. 3 46621123 rs9819070 A T 122 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.009585,T/0.9904;NP=3419;Gene=TDGF1/NM_001174136.1/1;CC=c.176-106A>T;VC=Intron;Gene=TDGF1/NM_003212.3/0;CC=c.224-106A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:105:T:39:33:0:0:39:1036:121.90:100.99:20.92:1.00:1.00:1.00:60:38.1:0:0:55:96:38:NM_001174136.1(TDGF1) c.176-106A>T,NM_001174136.1(TDGF1) c.176-106A>T:0.99,0.99:NOT_FOUND,NOT_FOUND 3 46621344 . G . . NT END=46621413;NT GT ./. 3 46621551 . G . . NT END=46622621;NT GT ./. 3 46622629 rs112928637 T C 79 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.982,C/0.01797;Gene=TDGF1/NM_001174136.1/1;CC=c.408T>C;ProtCh=p.L136=;VC=Silent;Gene=TDGF1/NM_003212.3/0;CC=c.456T>C;ProtCh=p.L152=;VC=Silent;DM=TDGF1/CFC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:56:0:0:27,38:850,1248:78.60,0.00:42.58,0.00:36.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,9.5:0,0:0,0:60,55:86,85:31,30:NM_001174136.1(TDGF1) c.408T>C (p.(=)),-:0.02,-:0.024835,- 3 46622741 . T . . NT END=46654155;NT GT ./. 3 46654132 rs2139637 G A 290 nt VT=SNV;PN=C;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.2825,A/0.7175;Gene=LOC100132146/NM_001195442.1/1;CC=c.-24G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:77:66:0:0:77:2530:289.67:181.54:108.14:1.00:1.00:1.00:60:40.3:0:0:82:66:28:NM_001195442.1(LOC100132146) c.-24G>A,NM_001195442.1(LOC100132146) c.-24G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 3 46654189 . G . . NT END=46658672;NT GT ./. 3 46658515 rs397761648 G GT 27 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.2214,GT/0.7786;DB;DBA=NA;PAF=G/0.2214,GT/0.7786;NP=68;PC=0.001;Gene=LOC100132146/NM_001195442.1/1;CC=c.34-153_34-152insT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:GT:8:8:8:0:8:232:27.01:27.01:0.00:1.00:1.00:0.00:60:9.2:0:0:27:124:22:NM_001195442.1(LOC100132146) c.34-158_34-157insT,NM_001195442.1(LOC100132146) c.34-158_34-157insT:0.84,0.84:NOT_FOUND,NOT_FOUND 3 46658737 rs9832679 A G 367 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.0619,G/0.9381;PC=0.982;Gene=LOC100132146/NM_001195442.1/1;CC=c.98A>G;ProtCh=p.H33R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:98:79:0:0:98:3203:366.99:201.08:165.91:1.00:1.00:1.00:60:41.8:0:0:50:95:23:NM_001195442.1(LOC100132146) c.98A>G (p.His33Arg),NM_001195442.1(LOC100132146) c.98A>G (p.His33Arg):0.96,0.96:NOT_FOUND,NOT_FOUND 3 46658819 . G . . NT END=46666617;NT GT ./. 3 46658872 rs9870935 G T 202 nt VT=SNV;PN=C;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.2865,T/0.7135;Gene=LOC100132146/NM_001195442.1/1;CC=c.179+54G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:T:55:13:0:0:55:1754:201.52:27.59:173.93:1.00:1.00:1.00:60:46.7:0:0:104:41:26:NM_001195442.1(LOC100132146) c.179+54G>T,NM_001195442.1(LOC100132146) c.179+54G>T:0.78,0.78:NOT_FOUND,NOT_FOUND 3 46666453 rs66857604 TTA T 29 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;Gene=LOC100132146/NM_001195442.1/1;CC=c.180-147_180-146delAT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:TTA,T:14:14:0:9:5,9:165,289:0.00,29.23:0.00,29.23:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,10.4:0,0:0,0:59,66:92,85:36,29:-,NM_001195442.1(LOC100132146) c.180-164_180-163delTA:-,NOT_FOUND:-,NOT_FOUND 3 46666709 . G . . NT END=46712473;NT GT ./. 3 46712555 . C . . NT END=46712977;NT GT ./. 3 46713259 . c . . NT END=46713373;NT GT ./. 3 46713457 rs7625303 C G 198 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=C/0.7496,G/0.2504,T/.;Gene=ALS2CL/NM_182775.2/0;CC=c.642G>C;ProtCh=p.T214=;VC=Silent;Gene=ALS2CL/NM_001190707.1/1;CC=c.2601G>C;ProtCh=p.T867=;VC=Silent;Gene=ALS2CL/NM_147129.3/0;CC=c.2601G>C;ProtCh=p.T867=;VC=Silent;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:154:89:0:0:85,69:2507,2108:0.00,197.69:0.00,78.14:0.00,119.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,35.7:0,0:0,0:83,73:64,74:40,41:-,NM_001190707.1(ALS2CL) c.2601G>C (p.(=)):-,0.27:-,0.197678 3 46713524 . C . . NT END=46713629;NT GT ./. 3 46713692 . C . . NT END=46714828;NT GT ./. 3 46713764 rs61277784 G A 53 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.7618,A/0.2382;Gene=ALS2CL/NM_182775.2/0;CC=c.514-73C>T;VC=Intron;Gene=ALS2CL/NM_001190707.1/1;CC=c.2473-73C>T;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.2473-73C>T;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:9:0:0:17,19:561,558:53.41,0.00:6.00,0.00:47.41,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:45.1,17.2:0,0:0,0:99,83:50,68:45,43:NM_001190707.1(ALS2CL) c.2473-73C>T,-:0.25,-:NOT_FOUND,- 3 46713865 rs3935248 C T 15 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.7614,G/.,T/0.2386;PC=0.853;Gene=ALS2CL/NM_182775.2/0;CC=c.514-174G>A;VC=Intron;Gene=ALS2CL/NM_001190707.1/1;CC=c.2473-174G>A;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.2473-174G>A;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:15:0:0:0:10,5:301,165:0.00,14.75:0.00,0.00:0.00,14.75:0.00,0.89:0.00,0.00:0.00,0.89:60,60:8.6,68.4:0,0:0,0:105,126:46,23:28,12:-,NM_001190707.1(ALS2CL) c.2473-174G>A:-,0.25:-,NOT_FOUND 3 46714872 . C . . NT END=46716055;NT GT ./. 3 46716230 . C . . NT END=46717107;NT GT ./. 3 46717467 . C . . NT END=46717734;NT GT ./. 3 46717492 rs4683269 C G 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.3007,G/0.6993;PC=0.004;Gene=ALS2CL/NM_182775.2/0;CC=c.227+243G>C;VC=Intron;Gene=ALS2CL/NM_001190707.1/1;CC=c.2186+243G>C;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.2186+243G>C;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:52:29:0:0:28,24:878,735:0.00,69.33:0.00,36.12:0.00,33.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.7,35.5:0,0:0,0:111,81:38,55:29,27:-,NM_001190707.1(ALS2CL) c.2186+243G>C:-,0.66:-,NOT_FOUND 3 46717893 . C . . NT END=46718131;NT GT ./. 3 46717931 rs6808525 T C 93 nt VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.2173,C/0.7827;Gene=ALS2CL/NM_182775.2/0;CC=c.70-39A>G;VC=Intron;Gene=ALS2CL/NM_001190707.1/1;CC=c.2029-39A>G;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.2029-39A>G;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:20:0:0:33,32:972,1046:93.21,0.00:18.56,0.00:74.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:55.4,5.9:0,0:0,0:90,104:37,46:31,29:NM_001190707.1(ALS2CL) c.2029-39A>G,-:0.76,-:0.771029,- 3 46717957 rs9876451 A G 82 nt VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.2618,C/.,G/0.7382,T/.;Gene=ALS2CL/NM_182775.2/0;CC=c.70-65T>C;VC=Intron;Gene=ALS2CL/NM_001190707.1/1;CC=c.2029-65T>C;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.2029-65T>C;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:57:19:0:0:31,26:937,862:0.00,81.55:0.00,19.21:0.00,62.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.9,62.4:0,0:0,0:89,97:59,53:48,34:-,NM_001190707.1(ALS2CL) c.2029-65T>C:-,0.71:-,NOT_FOUND 3 46718229 . C . . NT END=46718338;NT GT ./. 3 46718298 rs6806400 A G 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.1787,G/0.8213;Gene=ALS2CL/NM_182775.2/0;CC=c.-29+41T>C;VC=Intron;Gene=ALS2CL/NM_001190707.1/1;CC=c.1931+41T>C;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.1931+41T>C;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:74:35:0:0:35,4,35:1019,54,929:0.00,1.90,88.22:0.00,2.45,30.46:0.00,-0.55,57.75:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:21.2,69.5,51.3:0,0,0:0,0,0:38,114,49:108,27,98:26,12,30:-,NM_001190707.1(ALS2CL) c.1931+41T>C:-,0.79:-,0.815931 3 46718513 . C . . NT END=46718669;NT GT ./. 3 46718900 . G . . NT END=46719748;NT GT ./. 3 46719010 rs4683309 A G 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2638,G/0.7362;Gene=ALS2CL/NM_001190707.1/1;CC=c.1758-498T>C;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.1758-498T>C;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:A,G:15:0:0:0:5,10:155,304:0.00,31.00:0.00,0.00:0.00,31.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.2,43.7:0,0:0,0:67,131:84,19:23,9:-,NM_001190707.1(ALS2CL) c.1758-498T>C:-,0.71:-,NOT_FOUND 3 46719880 . C . . NT END=46720699;NT GT ./. 3 46720778 . C . . NT END=46721919;NT GT ./. 3 46721662 rs6803988 T C 13 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2075,C/0.7925;Gene=ALS2CL/NM_001190707.1/1;CC=c.1548+258A>G;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.1548+258A>G;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:7:7:0:0:4,3:127,74:12.54,0.00:12.54,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:33.8,18.3:0,0:0,0:50,62:100,88:18,5:NM_001190707.1(ALS2CL) c.1548+258A>G,-:0.76,-:NOT_FOUND,- 3 46722032 . C . . NT END=46722735;NT GT ./. 3 46722692 rs13080080 G T 84 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.3512,A/.,T/0.6488;Gene=ALS2CL/NM_001190707.1/1;CC=c.1436+44C>A;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.1436+44C>A;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:52:49:0:0:26,26:771,876:0.00,84.38:0.00,72.04:0.00,12.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,38.9:0,0:0,0:32,64:116,87:19,39:-,NM_001190707.1(ALS2CL) c.1436+44C>A:-,0.64:-,0.638769 3 46722898 . C . . NT END=46722989;NT GT ./. 3 46723089 . C . . NT END=46723518;NT GT ./. 3 46723585 . C . . NT END=46724619;NT GT ./. 3 46723777 rs56069285 G A 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6899,A/0.3101;PC=0.001;Gene=ALS2CL/NM_001190707.1/1;CC=c.1110-193C>T;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.1110-193C>T;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,G:13:0:0:0:8,5:244,170:24.41,0.00:0.00,0.00:24.41,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.0,26.4:0,0:0,0:64,102:85,48:15,14:NM_001190707.1(ALS2CL) c.1110-193C>T,-:0.29,-:NOT_FOUND,- 3 46724817 . C . . NT END=46725271;NT GT ./. 3 46725110 rs9810659 A G 26 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2202,G/0.7798;Gene=ALS2CL/NM_001190707.1/1;CC=c.912+162T>C;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.912+162T>C;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:A,G:13:12:0:0:5,8:116,255:0.00,25.60:0.00,22.03:0.00,3.57:0.00,1.00:0.00,1.00:0.00,0.74:60,60:50.6,77.0:0,0:0,0:135,49:14,101:7,15:-,NM_001190707.1(ALS2CL) c.912+162T>C:-,0.74:-,NOT_FOUND 3 46725120 rs9868213 T G 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.2268,G/0.7732;Gene=ALS2CL/NM_001190707.1/1;CC=c.912+152A>C;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.912+152A>C;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:151:G,T:14:14:0:0:8,6:258,149:25.50,0.00:25.50,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:77.2,47.8:0,0:0,0:51,45:99,106:12,40:NM_001190707.1(ALS2CL) c.912+152A>C,-:0.74,-:NOT_FOUND,- 3 46725339 . C . . NT END=46725478;NT GT ./. 3 46725538 . C . . NT END=46727014;NT GT ./. 3 46727135 . C . . NT END=46727797;NT GT ./. 3 46727930 . C . . NT END=46728472;NT GT ./. 3 46728639 . C . . NT END=46729108;NT GT ./. 3 46728659 rs7633016 G A 91 nt VT=SNV;PN=C;NN=C;SST=Single;DP=73;DB;DBA=NA;PAF=G/0.5435,A/0.4565;Gene=ALS2CL/NM_001190707.1/1;CC=c.369-21C>T;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.369-21C>T;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:73:43:0:0:31,42:978,1350:90.96,0.00:30.34,0.00:60.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,18.0:0,0:0,0:100,51:48,97:17,26:NM_001190707.1(ALS2CL) c.369-21C>T,-:0.41,-:0.42943,- 3 46728904 rs7426833 C A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.5523,A/0.4477;Gene=ALS2CL/NM_001190707.1/1;CC=c.368+205G>T;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.368+205G>T;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:149:A,C:17:12:0:0:6,11:156,359:13.64,0.00:11.47,0.00:2.17,0.00:0.95,0.00:0.99,0.00:0.91,0.00:60,60:35.8,10.2:0,0:0,0:30,56:116,94:25,36:NM_001190707.1(ALS2CL) c.368+205G>T,-:0.4,-:NOT_FOUND,- 3 46729175 . C . . NT END=46729587;NT GT ./. 3 46729757 rs7642448 C G 122 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=C/0.5515,G/0.4485;PC=0.845;Gene=ALS2CL/NM_001190707.1/1;CC=c.133G>C;ProtCh=p.E45Q;VC=Missense;Gene=ALS2CL/NM_147129.3/0;CC=c.133G>C;ProtCh=p.E45Q;VC=Missense;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:86:52:0:0:46,40:1483,1292:0.00,122.41:0.00,46.77:0.00,75.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,44.2:0,0:0,0:75,83:76,51:37,30:-,NM_001190707.1(ALS2CL) c.133G>C (p.Glu45Gln):-,0.4:-,0.421344 3 46729787 . C . . NT END=46730827;NT GT ./. 3 46730580 rs6776464 G T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5665,T/0.4335;Gene=ALS2CL/NM_001190707.1/1;CC=c.103+248C>A;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.103+248C>A;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:34.0:0:0:20:112:4:NM_001190707.1(ALS2CL) c.103+248C>A,NM_001190707.1(ALS2CL) c.103+248C>A:0.38,0.38:NOT_FOUND,NOT_FOUND 3 46730749 rs4076927 A G 56 nt VT=SNV;PN=C;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.5411,G/0.4589;Gene=ALS2CL/NM_001190707.1/1;CC=c.103+79T>C;VC=Intron;Gene=ALS2CL/NM_147129.3/0;CC=c.103+79T>C;VC=Intron;Gene=ALS2CL/NR_033815.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:33:32:0:0:13,20:386,556:0.00,55.52:0.00,51.23:0.00,4.28:0.00,1.00:0.00,1.00:0.00,0.98:60,60:6.5,34.5:0,0:0,0:62,51:84,99:24,26:-,NM_001190707.1(ALS2CL) c.103+79T>C:-,0.42:-,NOT_FOUND 3 46730931 . G . . NT END=46742977;NT GT ./. 3 46743071 . G . . NT END=46747279;NT GT ./. 3 46747398 . G . . NT END=46750615;NT GT ./. 3 46750553 rs11130106 G A 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.6316,A/0.3684;Gene=TMIE/NM_147196.2/1;CC=c.212-63G>A;VC=Intron;DM=TMIE/TMIE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:62:56:0:0:27,35:935,962:88.05,0.00:64.03,0.00:24.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,14.7:0,0:0,0:44,47:104,99:30,35:NM_147196.2(TMIE) c.212-63G>A,-:0.39,-:NOT_FOUND,- 3 46750766 . G . . NT END=46751068;NT GT ./. 3 46751073 rs71619660 TAAG T 89 idl,rn VT=DEL;SST=Single;DP=106;DB;DBA=in-clinvar;PAF=TAAG/0.2602,T/0.7254;DB;DBA=NA;PAF=TAAG/0.2602,T/0.7254;DB;DBA=NA;PAF=TAAG/0.2602,T/0.7254;DB;DBA=NA;PAF=TAAG/0.2602,T/0.7254;NP=2209;PC=0.976;Gene=TMIE/NM_147196.2/1;CC=c.391_393delAAG;ProtCh=p.K131del;VC=InFrameDel;DM=TMIE/TMIE;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAG,T:103:80:0:36:71,32:2203,1074:0.00,88.78:0.00,65.81:0.00,22.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,6.3:0,3:0,0:101,61:48,83:31,32:-,NM_147196.2(TMIE) c.367AAG[8] (p.Lys123[8]):-,NOT_FOUND:-,NOT_FOUND 3 46751179 . A . . NT END=46753735;NT GT ./. 3 46753973 . C . . NT END=46754390;NT GT ./. 3 46754558 . C . . NT END=46755707;NT GT ./. 3 46755992 . C . . NT END=46757024;NT GT ./. 3 46757188 . C . . NT END=46758926;NT GT ./. 3 46759128 . C . . NT END=46759208;NT GT ./. 3 46759315 . C . . NT END=46761488;NT GT ./. 3 46761494 . C . . NT END=46775125;NT GT ./. 3 46775386 . C . . NT END=46775554;NT GT ./. 3 46775733 . C . . NT END=46777796;NT GT ./. 3 46777879 . G . . NT END=46783839;NT GT ./. 3 46784074 . C . . NT END=46784402;NT GT ./. 3 46784573 . C . . NT END=46785460;NT GT ./. 3 46785631 . C . . NT END=46786132;NT GT ./. 3 46786246 . T . . NT END=46853202;NT GT ./. 3 46853364 . C . . NT END=46853711;NT GT ./. 3 46853977 . G . . NT END=46871893;NT GT ./. 3 46871984 . C . . NT END=46873365;NT GT ./. 3 46873527 . C . . NT END=46874436;NT GT ./. 3 46874697 . C . . NT END=46875009;NT GT ./. 3 46875167 . C . . NT END=46875371;NT GT ./. 3 46875586 . G . . NT END=46899733;NT GT ./. 3 46899763 . C . . NT END=46899873;NT GT ./. 3 46899952 . C . . NT END=46900964;NT GT ./. 3 46901139 . C . . NT END=46902165;NT GT ./. 3 46902316 . C . . NT END=46902449;NT GT ./. 3 46902478 . C . . NT END=46904751;NT GT ./. 3 46904881 . T . . NT END=46925049;NT GT ./. 3 46924638 rs540920290 AAAAG A 9 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AAAAG/0.1711,A/0.8289;NP=215;PC=0.156;Gene=PTH1R/NM_000316.2/1;CC=c.-48-336_-48-333delGAAA;VC=Intron;Gene=PTH1R/NM_001184744.1/0;CC=c.-48-336_-48-333delGAAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:AAAAG,A:4:3:0:3:1,3:32,90:0.00,9.45:0.00,5.90:0.00,3.55:0.00,0.85:0.00,0.99:0.00,0.83:60,70:0.0,42.7:0,0:0,0:145,76:3,75:0,11:-,NM_000316.2(PTH1R) c.-48-363_-48-360delAAAG:-,NOT_FOUND:-,NOT_FOUND 3 46925125 . G . . NT END=46934215;NT GT ./. 3 46933960 rs1001284 C G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5497,G/0.4503;Gene=PTH1R/NM_000316.2/1;CC=c.76-1437C>G;VC=Intron;Gene=PTH1R/NM_001184744.1/0;CC=c.76-1437C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G:5:5:0:0:1,4:34,124:0.00,13.22:0.00,13.22:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,37.5:0,0:0,0:50,23:99,128:0,14:-,NM_000316.2(PTH1R) c.76-1437C>G:-,0.48:-,NOT_FOUND 3 46934292 rs4683300 C A 117 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.5415,A/0.4585;Gene=PTH1R/NM_000316.2/1;CC=c.76-1105C>A;VC=Intron;Gene=PTH1R/NM_001184744.1/0;CC=c.76-1105C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:63:41:0:0:36,27:1184,832:116.89,0.00:54.18,0.00:62.71,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,9.9:0,0:0,0:95,89:54,62:34,26:NM_000316.2(PTH1R) c.76-1105C>A,-:0.49,-:NOT_FOUND,- 3 46934306 . G . . NT END=46935396;NT GT ./. 3 46935500 . G . . NT END=46937185;NT GT ./. 3 46935527 rs724450 G T 96 nt VT=SNV;PN=G;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.7123,A/.,T/0.2877;Gene=PTH1R/NM_000316.2/1;CC=c.178+28G>T;VC=Intron;Gene=PTH1R/NM_001184744.1/0;CC=c.178+28G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:48:25:0:0:16,32:528,943:0.00,96.18:0.00,40.89:0.00,55.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,39.7:0,0:0,0:105,89:44,60:12,28:-,NM_000316.2(PTH1R) c.178+28G>T:-,0.27:-,0.157927 3 46937360 . G . . NT END=46939344;NT GT ./. 3 46939456 . G . . NT END=46939563;NT GT ./. 3 46939683 . G . . NT END=46939867;NT GT ./. 3 46939963 . G . . NT END=46940151;NT GT ./. 3 46940348 . G . . NT END=46940792;NT GT ./. 3 46940947 . G . . NT END=46942514;NT GT ./. 3 46941116 rs2242116 A G 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4972,G/0.5028;Gene=PTH1R/NM_000316.2/1;CC=c.988+170A>G;VC=Intron;Gene=PTH1R/NM_001184744.1/0;CC=c.988+170A>G;VC=Intron;DM=PTH1R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,G:10:0:0:0:6,4:199,133:0.00,12.29:0.00,0.00:0.00,12.29:0.00,0.99:0.00,0.00:0.00,0.99:60,60:8.7,33.2:0,0:0,0:108,59:42,92:11,23:-,NM_000316.2(PTH1R) c.988+170A>G:-,0.53:-,NOT_FOUND 3 46942576 . G . . NT END=46942903;NT GT ./. 3 46942971 . G . . NT END=46943255;NT GT ./. 3 46943028 rs1531137 T C 38 nt VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.5399,C/0.4601;Gene=PTH1R/NM_000316.2/1;CC=c.1116+58T>C;VC=Intron;Gene=PTH1R/NM_001184744.1/0;CC=c.1116+58T>C;VC=Intron;DM=PTH1R/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:55:19:0:0:17,38:447,1224:37.98,0.00:4.82,0.00:33.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,12.7:0,0:0,0:101,98:40,46:18,32:NM_000316.2(PTH1R) c.1116+58T>C,-:0.49,-:0.49562,- 3 46943351 . G . . NT END=46944015;NT GT ./. 3 46944158 . G . . NT END=46944238;NT GT ./. 3 46944274 rs1138518 T C 150 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.3566,C/0.6434;Gene=PTH1R/NM_000316.2/1;CC=c.1389T>C;ProtCh=p.N463=;VC=Silent;Gene=PTH1R/NM_001184744.1/0;CC=c.1389T>C;ProtCh=p.N463=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:85:37:0:0:48,37:1520,1172:149.65,0.00:43.54,0.00:106.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.8,8.0:0,0:0,0:104,96:46,53:25,30:NM_000316.2(PTH1R) c.1389T>C (p.(=)),-:0.64,-:0.679686,- 3 46944281 . G . . NT END=46944759;NT GT ./. 3 46945147 . C . . NT END=46963546;NT GT ./. 3 46963502 rs4587 T C 118 nt VT=SNV;PN=C;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.3478,C/0.6522;PC=0.004;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.*45A>G;VC=3UTR;Gene=CCDC12/NM_144716.5/1;CC=c.*45A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:54:0:0:37,22:1176,723:118.34,0.00:86.60,0.00:31.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,4.9:0,0:0,0:55,61:96,88:25,30:NM_144716.3(CCDC12) c.*45A>G,-:0.66,-:0.712671,- 3 46963630 . C . . NT END=46963725;NT GT ./. 3 46963803 . C . . NT END=46964818;NT GT ./. 3 46964854 . C . . NT END=46965096;NT GT ./. 3 46965159 . C . . NT END=46966945;NT GT ./. 3 46965197 rs2290546 C G 84 nt VT=SNV;PN=A;NN=G;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.3482,G/0.6518,T/.;PC=0.001;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.245-39G>C;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.284-39G>C;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:54:26:0:0:27,27:853,869:0.00,83.52:0.00,27.24:0.00,56.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,40.4:0,0:0,0:115,118:36,33:29,11:-,NM_144716.3(CCDC12) c.284-39G>C:-,0.66:-,0.714978 3 46967026 . C . . NT END=46982487;NT GT ./. 3 46967040 rs2290545 G A 130 nt VT=SNV;PN=G;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=G/0.2983,A/0.7017;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.165-15C>T;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.204-15C>T;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:85:39:0:0:40,45:1363,1395:129.89,0.00:35.22,0.00:94.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,6.2:0,0:0,0:96,100:52,41:23,21:NM_144716.3(CCDC12) c.204-15C>T,-:0.71,-:0.780717,- 3 46982365 rs6804732 T C 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.0599,C/0.9401;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.164+123A>G;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.203+123A>G;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:21:0:0:21:688:78.81:78.81:0.00:1.00:1.00:0.00:60:34.4:0:0:38:112:25:NM_144716.3(CCDC12) c.203+123A>G,NM_144716.3(CCDC12) c.203+123A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 3 46982556 . C . . NT END=47017842;NT GT ./. 3 46982737 rs4682844 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.632,C/0.368;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.97-182A>G;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.136-182A>G;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:121:C,T:11:0:0:0:7,4:217,124:21.91,0.00:0.00,0.00:21.91,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:95.3,65.0:0,0:0,0:133,92:18,59:15,22:NM_144716.3(CCDC12) c.136-182A>G,-:0.37,-:NOT_FOUND,- 3 46982762 rs4682843 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.05931,G/0.9407;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.97-207T>C;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.136-207T>C;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:202:23.06:0.00:23.06:1.00:0.00:1.00:60:104.8:0:0:98:53:22:NM_144716.3(CCDC12) c.136-207T>C,NM_144716.3(CCDC12) c.136-207T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 46982774 rs4683293 T C 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.05631,C/0.9437;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.97-219A>G;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.136-219A>G;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:135:15.88:0.00:15.88:1.00:0.00:1.00:60:112.2:0:0:108:43:4:NM_144716.3(CCDC12) c.136-219A>G,NM_144716.3(CCDC12) c.136-219A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 46982779 rs4682841 G A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.05631,A/0.9437;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.97-224C>T;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.136-224C>T;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:114:13.30:0.00:13.30:1.00:0.00:1.00:60:124.8:0:0:112:39:3:NM_144716.3(CCDC12) c.136-224C>T,NM_144716.3(CCDC12) c.136-224C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47017683 rs936179 G A 115 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.06769,A/0.9323;PC=0.024;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.96+444C>T;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.135+444C>T;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:A,C:34:34:0:0:33,1:1000,12:115.20,0.35:113.27,0.35:1.93,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:43.2,112.0:0,0:0,0:44,71:106,65:22,0:NM_144716.3(CCDC12) c.135+444C>T,NM_144716.3(CCDC12) c.135+444C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 3 47017915 rs936180 A G 794 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=221;DB;DBA=NA;PAF=A/0.0631,G/0.9369;Gene=CCDC12/NR_102269.1/0;VC=NonCoding;Gene=CCDC12/NM_001277074.1/0;CC=c.96+212T>C;VC=Intron;Gene=CCDC12/NM_144716.5/1;CC=c.135+212T>C;VC=Intron;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:221:157:0:0:1,220:12,6917:0.00,793.95:0.00,398.94:0.00,395.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,39.4:0,0:0,0:124,70:7,78:0,36:NM_144716.3(CCDC12) c.135+212T>C,NM_144716.3(CCDC12) c.135+212T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 47017992 . C . . NT END=47018126;NT GT ./. 3 47018214 rs936181 T C 702 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=197;DB;DBA=NA;PAF=T/0.0597,C/0.9403;Gene=CCDC12/NM_001277074.1/0;CC=c.9A>G;ProtCh=p.A3=;VC=Silent;Gene=CCDC12/NM_144716.5/1;CC=c.48A>G;ProtCh=p.A16=;VC=Silent;DM=CCDC12/cwf18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:197:116:0:0:197:6093:702.40:321.89:380.51:1.00:1.00:1.00:60:42.6:0:0:90:58:32:NM_144716.3(CCDC12) c.=,NM_144716.3(CCDC12) c.=:0.95,0.95:0.93503,0.93503 3 47018262 . C . . NT END=47029484;NT GT ./. 3 47029426 rs1108301 G A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.5887,A/0.4113;PC=0.972;Gene=NBEAL2/NM_015175.2/1;CC=c.52-733G>A;VC=Intron;DM=NBEAL2/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:26:0:0:14,15:421,481:40.02,0.00:26.41,0.00:13.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.2,4.3:0,0:0,0:41,37:106,110:28,14:NM_015175.2(NBEAL2) c.52-733G>A,-:0.42,-:NOT_FOUND,- 3 47029568 . G . . NT END=47030158;NT GT ./. 3 47029661 rs12152493 G A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.4521,A/0.5479;Gene=NBEAL2/NM_015175.2/1;CC=c.52-498G>A;VC=Intron;DM=NBEAL2/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:3:0:0:10,15:318,473:29.28,0.00:3.37,0.00:25.91,0.00:1.00,0.00:0.80,0.00:1.00,0.00:60,60:34.3,11.8:0,0:0,0:123,109:27,41:19,19:NM_015175.2(NBEAL2) c.52-498G>A,-:0.55,-:NOT_FOUND,- 3 47030248 . G . . NT END=47030331;NT GT ./. 3 47030461 . G . . NT END=47030574;NT GT ./. 3 47030657 . G . . NT END=47030749;NT GT ./. 3 47030872 . G . . NT END=47031000;NT GT ./. 3 47031084 . G . . NT END=47032708;NT GT ./. 3 47031237 rs4282092 C G 35 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.05032,G/0.9497;Gene=NBEAL2/NM_015175.2/1;CC=c.556+154C>G;VC=Intron;DM=NBEAL2/DUF4800 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:308:35.09:0.00:35.09:1.00:0.00:1.00:60:34.2:0:0:122:29:20:NM_015175.2(NBEAL2) c.556+154C>G,NM_015175.2(NBEAL2) c.556+154C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47032795 . G . . NT END=47032895;NT GT ./. 3 47033179 . G . . NT END=47033329;NT GT ./. 3 47033437 . G . . NT END=47033964;NT GT ./. 3 47033937 rs13066214 C T 57 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.5278,T/0.4722;Gene=NBEAL2/NM_015175.2/1;CC=c.1033-28C>T;VC=Intron;DM=NBEAL2/PH_BEACH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:37:33:0:0:19,18:617,592:0.00,56.62:0.00,36.34:0.00,20.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,43.5:0,0:0,0:31,52:115,94:22,33:-,NM_015175.2(NBEAL2) c.1033-28C>T:-,0.5:-,0.465046 3 47034046 . G . . NT END=47035426;NT GT ./. 3 47035511 . G . . NT END=47035944;NT GT ./. 3 47035625 rs936185 G A 73 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.02995,A/0.97;Gene=NBEAL2/NM_015175.2/1;CC=c.1197+115G>A;VC=Intron;DM=NBEAL2/DUF4704 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:2:0:0:19:635:72.56:7.15:65.40:1.00:1.00:1.00:60:51.7:0:0:83:68:34:NM_015175.2(NBEAL2) c.1197+115G>A,NM_015175.2(NBEAL2) c.1197+115G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 47035735 rs749511 T G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6729,G/0.3271;Gene=NBEAL2/NM_015175.2/1;CC=c.1198-210T>G;VC=Intron;DM=NBEAL2/DUF4704 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:G,T:11:6:0:0:4,7:128,214:11.58,0.00:9.03,0.00:2.55,0.00:0.82,0.00:0.92,0.00:0.89,0.00:60,60:52.2,31.4:0,0:0,0:39,108:111,43:17,36:NM_015175.2(NBEAL2) c.1198-210T>G,-:0.32,-:NOT_FOUND,- 3 47035900 rs749512 C T 41 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.6941,T/0.3059;PC=0.001;Gene=NBEAL2/NM_015175.2/1;CC=c.1198-45C>T;VC=Intron;DM=NBEAL2/DUF4704 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:21:0:0:14,14:392,430:0.00,41.26:0.00,26.38:0.00,14.88:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.9,49.3:0,0:0,0:44,46:106,104:19,14:-,NM_015175.2(NBEAL2) c.1198-45C>T:-,0.3:-,0.316185 3 47036044 . G . . NT END=47036521;NT GT ./. 3 47036756 rs11720139 C G 270 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=178;DB;DBA=NA;PAF=C/0.6833,G/0.3167,T/.;PC=0.421;Gene=NBEAL2/NM_015175.2/1;CC=c.1531C>G;ProtCh=p.R511G;VC=Missense;DM=NBEAL2/DUF4704;DM=NBEAL2/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:178:116:0:0:84,94:2512,2787:0.00,270.24:0.00,136.53:0.00,133.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.2,37.0:0,0:0,0:62,73:85,64:35,32:-,NM_015175.2(NBEAL2) c.1531C>G (p.Arg511Gly):-,0.31:-,0.311324 3 47037124 . G . . NT END=47037203;NT GT ./. 3 47037337 . G . . NT END=47037421;NT GT ./. 3 47037542 . G . . NT END=47037760;NT GT ./. 3 47038083 . G . . NT END=47038240;NT GT ./. 3 47038135 rs11396344 C CA 207 nt VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.04972,CA/0.9503;NP=2436;Gene=NBEAL2/NM_015175.2/1;CC=c.2473+53_2473+54insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,C,CA:68:35:61:0:1,6,61:22,178,1865:0.87,0.00,206.79:0.90,0.00,99.26:-0.03,0.00,107.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,54.7,11.1:0,0,0:0,0,0:1,146,101:150,4,48:0,1,29:-,NM_015175.2(NBEAL2) c.2473+53_2473+54insA:-,0.96:-,NOT_FOUND 3 47038324 . G . . NT END=47038443;NT GT ./. 3 47038537 . G . . NT END=47038748;NT GT ./. 3 47038924 . G . . NT END=47039050;NT GT ./. 3 47039185 . G . . NT END=47039556;NT GT ./. 3 47039717 . G . . NT END=47039952;NT GT ./. 3 47040056 . G . . NT END=47040206;NT GT ./. 3 47040370 . G . . NT END=47040448;NT GT ./. 3 47040608 . G . . NT END=47040759;NT GT ./. 3 47040965 . G . . NT END=47041119;NT GT ./. 3 47041206 . G . . NT END=47041378;NT GT ./. 3 47041895 . G . . NT END=47042490;NT GT ./. 3 47042161 rs34344887 A G 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4515,G/0.5485;Gene=NBEAL2/NM_015175.2/1;CC=c.4305+267A>G;VC=Intron;DM=NBEAL2/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,G:12:5:0:0:2,10:60,328:0.00,35.22:0.00,13.41:0.00,21.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,49.8:0,0:0,0:67,79:83,71:66,43:-,NM_015175.2(NBEAL2) c.4305+267A>G:-,0.56:-,NOT_FOUND 3 47042670 . G . . NT END=47042768;NT GT ./. 3 47042929 . G . . NT END=47043178;NT GT ./. 3 47043317 . G . . NT END=47043409;NT GT ./. 3 47043538 rs2305634 C T 243 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=156;DB;DBA=NA;PAF=C/0.5284,G/.,T/0.4716;Gene=NBEAL2/NM_015175.2/1;CC=c.4911C>T;ProtCh=p.S1637=;VC=Silent;DM=NBEAL2/DUF4800 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:156:97:0:0:77,79:2546,2528:0.00,243.43:0.00,122.71:0.00,120.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.5,38.4:0,0:0,0:85,74:59,68:37,42:-,NM_015175.2(NBEAL2) c.4911C>T (p.(=)):-,0.5:-,0.452446 3 47043622 rs2305635 G A 193 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=144;DB;DBA=NA;PAF=G/0.6799,A/0.3201;PC=1.000;Gene=NBEAL2/NM_015175.2/1;CC=c.4995G>A;ProtCh=p.V1665=;VC=Silent;DM=NBEAL2/DUF4800 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:144:93:0:0:71,73:2025,2400:192.83,0.00:98.07,0.00:94.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.5,20.7:0,0:0,0:68,66:78,82:36,40:NM_015175.2(NBEAL2) c.4995G>A (p.(=)),-:0.32,-:0.331858,- 3 47043779 . G . . NT END=47043860;NT GT ./. 3 47044011 . G . . NT END=47044134;NT GT ./. 3 47044122 rs11928558 A T 391 nt VT=SNV;PN=T;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=A/0.05072,T/0.9493;Gene=NBEAL2/NM_015175.2/1;CC=c.5302-13A>T;VC=Intron;DM=NBEAL2/DUF4800 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:112:75:0:0:1,111:10,3406:0.00,391.44:0.00,221.25:0.00,170.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:143.0,44.1:0,0:0,0:145,74:6,77:0,42:NM_015175.2(NBEAL2) c.5302-13A>T,NM_015175.2(NBEAL2) c.5302-13A>T:0.96,0.96:0.948859,0.948859 3 47044293 . G . . NT END=47044446;NT GT ./. 3 47044572 . G . . NT END=47044663;NT GT ./. 3 47044800 . G . . NT END=47045305;NT GT ./. 3 47045467 . G . . NT END=47045566;NT GT ./. 3 47045739 rs1079276 C G 178 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=118;DB;DBA=NA;PAF=C/0.528,A/.,G/0.472;Gene=NBEAL2/NM_015175.2/1;CC=c.6054C>G;ProtCh=p.P2018=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:118:64:0:0:58,59,1:1810,1850,27:0.00,177.81,0.91:0.00,67.88,1.04:0.00,109.93,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.1,47.0,75.0:0,0,0:0,0,0:82,93,90:68,55,61:35,33,0:-,NM_015175.2(NBEAL2) c.6054C>G (p.(=)):-,0.5:-,0.472101 3 47045884 . G . . NT END=47045984;NT GT ./. 3 47046081 . G . . NT END=47046461;NT GT ./. 3 47046587 . G . . NT END=47046670;NT GT ./. 3 47046812 . G . . NT END=47046978;NT GT ./. 3 47046842 rs2305638 G C 175 nt VT=SNV;PN=G;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.4535,C/0.5465;Gene=NBEAL2/NM_015175.2/1;CC=c.6560+31G>C;VC=Intron;DM=NBEAL2/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:125:66:0:0:59,65,1:1848,2018,10:175.46,0.00,-0.14:87.37,0.00,-0.07:88.09,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.2,5.9,74.0:0,0,0:0,0,0:104,101,112:44,44,39:24,28,0:NM_015175.2(NBEAL2) c.6560+31G>C,-:0.55,-:0.556709,- 3 47047110 . G . . NT END=47047227;NT GT ./. 3 47047176 rs5848810 A AG 123 nt VT=INS;SST=Single;DP=79;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.4467,AG/0.5533;NP=2484;Gene=NBEAL2/NM_015175.2/1;CC=c.6692-47dupG;VC=Intron;DM=NBEAL2/Beach;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,AG:79:37:41:0:37,1,41:1197,7,1272:0.00,-0.15,123.33:0.00,-0.09,42.45:0.00,-0.06,80.88:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.9,21.0,4.3:0,0,0:0,0,0:69,36,83:81,115,67:40,0,46:-,NM_015175.2(NBEAL2) c.6692-52_6692-51insG:-,0.56:-,NOT_FOUND 3 47047338 . G . . NT END=47047435;NT GT ./. 3 47047358 rs13081418 A C 104 nt VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.766,C/0.234;Gene=NBEAL2/NM_015175.2/1;CC=c.6801+21A>C;VC=Intron;DM=NBEAL2/Beach GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:80:45:0:0:46,34:1474,1113:0.00,103.85:0.00,42.89:0.00,60.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,46.5:0,0:0,0:87,102:63,48:37,24:-,NM_015175.2(NBEAL2) c.6801+21A>C:-,0.23:-,0.236572 3 47047554 . G . . NT END=47047654;NT GT ./. 3 47047753 . G . . NT END=47047822;NT GT ./. 3 47047940 . G . . NT END=47048555;NT GT ./. 3 47048452 rs56217494 T G 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6767,G/0.3233;Gene=NBEAL2/NM_015175.2/1;CC=c.7135-104T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:G,T:13:13:0:0:5,8:107,251:9.29,0.00:9.29,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:28.4,13.8:0,0:0,0:92,29:58,122:47,17:NM_015175.2(NBEAL2) c.7135-104T>G,-:0.32,-:NOT_FOUND,- 3 47048646 . G . . NT END=47048730;NT GT ./. 3 47048841 . G . . NT END=47049014;NT GT ./. 3 47049188 . G . . NT END=47049305;NT GT ./. 3 47049401 . G . . NT END=47049559;NT GT ./. 3 47049677 . G . . NT END=47049772;NT GT ./. 3 47049932 . G . . NT END=47050009;NT GT ./. 3 47050159 . G . . NT END=47050478;NT GT ./. 3 47050615 . G . . NT END=47050708;NT GT ./. 3 47050811 . A . . NT END=47058582;NT GT ./. 3 47050908 rs397708574 AG A 29 rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=90;Gene=NBEAL2/NM_015175.2/1;CC=c.*104delG;VC=3UTR;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:22:2:0:10:12,10:373,312:0.00,29.40:0.00,-0.39:0.00,29.79:0.00,1.00:0.00,0.75:0.00,1.00:60,60:15.5,6.1:0,0:0,0:94,76:56,74:35,31:-,NM_015175.2(NBEAL2) c.*99G[5]:-,0.47:-,NOT_FOUND 3 47058745 . C . . NT END=47059127;NT GT ./. 3 47059230 . C . . NT END=47061249;NT GT ./. 3 47059323 rs2385867 C T 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.4481,T/0.5519;PC=0.004;Gene=SETD2/NM_014159.6/1;CC=c.7432-94G>A;VC=Intron;DM=SETD2/SRI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:2:0:0:11,7:313,208:0.00,18.93:0.00,1.63:0.00,17.30:0.00,0.98:0.00,0.69:0.00,0.98:60,60:21.0,39.7:0,0:0,0:112,118:39,33:13,9:-,NM_014159.6(SETD2) c.7432-94G>A:-,0.56:-,NOT_FOUND 3 47061331 . C . . NT END=47079155;NT GT ./. 3 47079112 rs6768722 G A 57 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.3225,A/0.6775;PC=0.003;Gene=SETD2/NM_014159.6/1;CC=c.7350+44C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:30:0:0:17,14:577,387:56.60,0.00:49.47,0.00:7.14,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:37.6,13.5:0,0:0,0:48,60:102,89:29,26:NM_014159.6(SETD2) c.7350+44C>T,-:0.68,-:0.642703,- 3 47079268 . C . . NT END=47084050;NT GT ./. 3 47084191 . C . . NT END=47087976;NT GT ./. 3 47087837 rs13063578 T A 31 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5232,A/0.4768;Gene=SETD2/NM_014159.6/1;CC=c.7098+140A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:23:22:0:4:10,13:327,346:30.66,0.00:30.91,0.00:-0.25,0.00:1.00,0.00:1.00,0.00:0.62,0.00:60,60:52.5,21.8:0,0:0,0:63,51:87,94:18,24:NM_014159.6(SETD2) c.7098+140A>T,-:0.42,-:NOT_FOUND,- 3 47088112 . C . . NT END=47098310;NT GT ./. 3 47098981 . C . . NT END=47103652;NT GT ./. 3 47103837 . C . . NT END=47108559;NT GT ./. 3 47103861 rs567995529 GTT G 89 idl,rn VT=DEL;SST=Single;DP=52;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=25;PC=0.003;Gene=SETD2/NM_014159.6/1;CC=c.6110-27_6110-26delAA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTT,T,I,G:51:20:1:30:21,1,1,28:666,32,34,936:0.00,1.79,1.98,89.10:0.00,-0.04,2.12,24.30:0.00,1.82,-0.14,64.80:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:9.0,42.0,51.0,5.7:0,1,0,1:0,0,0,0:116,39,81,77:15,112,69,44:20,0,0,32:-,NM_014159.6(SETD2) c.6110-27_6110-26delAA:-,NOT_FOUND:-,NOT_FOUND 3 47108330 rs9844122 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3237,T/0.6763;Gene=SETD2/NM_014159.6/1;CC=c.6109+230G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,T:5:5:0:0:1,4:10,136:0.00,14.48:0.00,14.48:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:11.0,37.0:0,0:0,0:53,64:97,85:0,9:-,NM_014159.6(SETD2) c.6109+230G>A:-,0.68:-,NOT_FOUND 3 47108609 . C . . NT END=47122290;NT GT ./. 3 47122574 . C . . NT END=47125209;NT GT ./. 3 47125385 rs4082155 G A 143 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=G/0.5302,A/0.4698,T/.;PC=0.757;Gene=SETD2/NM_014159.6/1;CC=c.5885C>T;ProtCh=p.P1962L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:103:62:0:0:47,56:1514,1810:142.94,0.00:70.63,0.00:72.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,5.9:0,0:0,0:79,64:72,85:29,35:NM_014159.6(SETD2) c.5885C>T (p.Pro1962Leu),-:0.5,-:0.471321,- 3 47125873 . C . . NT END=47127684;NT GT ./. 3 47125916 rs5848822 CT C 28 sb;idl,rn VT=DEL;SST=Single;DP=40;DB;DBA=NA;PAF=CT/0.4289,C/0.5711;DB;DBA=NA;PAF=CT/0.4289,C/0.5711;NP=91;PC=0.680;Gene=SETD2/NM_014159.6/1;CC=c.5398-45delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:37:14:3:14:23,3,11:667,101,409:0.00,7.38,28.09:0.00,3.84,0.48:0.00,3.54,27.60:0.00,0.00,1.00:0.00,0.00,0.97:0.00,0.00,1.00:60,60,60:30.1,42.0,31.6:0,0,3:0,0,0:102,113,92:43,38,57:21,4,23:-,NM_014159.6(SETD2) c.5398-45delA:-,NOT_FOUND:-,NOT_FOUND 3 47127805 . C . . NT END=47129602;NT GT ./. 3 47129364 rs201982467 C CAGG 9 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3219,CAGG/.,CAGGA/0.6781,CGAG/.;DB;DBA=NA;PAF=NA;NP=160;PC=0.089;Gene=SETD2/NM_014159.6/1;CC=c.5277+238_5277+239insCCT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:C,CAGG:5:4:3:0:2,3:19,87:0.00,8.72:0.00,5.77:0.00,2.95:0.00,0.78:0.00,0.97:0.00,0.73:60,60:30.5,73.3:0,0:0,0:68,60:82,90:3,31:-,NM_014159.6(SETD2) c.5277+238_5277+239insCCT:-,0.65:-,NOT_FOUND 3 47129454 rs66851205 TAAAC T 23 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=TAAAC/0.4347,T/0.5653;DB;DBA=NA;PAF=TAAAC/0.4347,T/0.5653;NP=618;PC=0.007;Gene=SETD2/NM_014159.6/1;CC=c.5277+145_5277+148delGTTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAAAC,T:16:15:0:8:8,8:256,243:0.00,23.31:0.00,23.60:0.00,-0.29:0.00,1.00:0.00,1.00:0.00,0.67:60,70:5.2,0.0:0,0:0,0:30,37:120,112:5,25:-,NM_014159.6(SETD2) c.5277+145_5277+148delGTTT:-,NOT_FOUND:-,NOT_FOUND 3 47129738 . C . . NT END=47139444;NT GT ./. 3 47129781 rs563758965 C CA 13 rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.993,A/0.006989;NP=7;Gene=SETD2/NM_014159.6/1;CC=c.5143-45dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:A,C,CA,D:36:14:6:3:1,27,6,2:13,780,173,64:0.08,0.00,13.38,4.18:-0.09,0.00,5.59,-0.18:0.16,0.00,7.78,4.36:0.00,0.00,0.89,0.00:0.00,0.00,0.87,0.00:0.00,0.00,0.99,0.00:60,60,60,60:113.0,19.8,21.2,5.5:0,0,0,0:0,0,0,0:101,79,53,119:50,71,97,31:0,25,16,5:-,NM_014159.6(SETD2) c.5143-45_5143-44insT:-,NOT_FOUND:-,NOT_FOUND 3 47129903 rs12631730 C T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2023,T/0.7977;PC=0.010;Gene=SETD2/NM_014159.6/1;CC=c.5143-166G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,T:12:0:0:0:4,8:117,235:0.00,23.95:0.00,0.00:0.00,23.95:0.00,1.00:0.00,0.00:0.00,1.00:60,60:47.2,54.2:0,0:0,0:111,89:40,59:9,24:-,NM_014159.6(SETD2) c.5143-166G>A:-,0.84:-,NOT_FOUND 3 47139572 . C . . NT END=47142947;NT GT ./. 3 47142907 rs60548476 TCC T 57 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=TCC/0.3998,T/0.6002;NP=2754;Gene=SETD2/NM_014159.6/1;CC=c.5015+39_5015+40delGG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCC,T:36:30:0:19:17,19:527,584:0.00,56.65:0.00,44.61:0.00,12.04:0.00,1.00:0.00,1.00:0.00,1.00:60,70:10.8,6.7:0,0:0,0:42,39:106,111:24,19:-,NM_014159.6(SETD2) c.5015+39_5015+40delGG:-,0.6:-,0.60647 3 47143046 . C . . NT END=47144835;NT GT ./. 3 47144914 . C . . NT END=47147486;NT GT ./. 3 47147393 rs71098451 CAA C 19 idl,rn VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=CAA/0.2969,C/0.7031;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=SETD2/NM_014159.6/1;CC=c.4839+92_4839+93delTT;VC=Intron;DM=SETD2/SET;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:CAA,I,C:19:24:2:15:10,2,7:296,54,444:0.00,3.77,18.84:0.00,3.82,15.54:0.00,-0.05,3.29:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.77:60,60,60:17.3,74.5,63.9:0,0,8:0,0,0:128,11,34:18,136,116:14,9,21:-,NM_014159.6(SETD2) c.4839+92_4839+93delTT:-,NOT_FOUND:-,NOT_FOUND 3 47147611 . C . . NT END=47155365;NT GT ./. 3 47155495 . C . . NT END=47158112;NT GT ./. 3 47158245 . C . . NT END=47161671;NT GT ./. 3 47162661 rs6767907 A G 106 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.3217,G/0.6783;PC=0.968;Gene=SETD2/NM_014159.6/1;CC=c.3465T>C;ProtCh=p.N1155=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:34:0:0:42,34:1333,1120:0.00,105.54:0.00,27.14:0.00,78.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.6,42.6:0,0:0,0:69,96:81,53:30,39:-,NM_014159.6(SETD2) c.3465T>C (p.(=)):-,0.68:-,0.644779 3 47166039 . C . . NT END=47168137;NT GT ./. 3 47168154 . C . . NT END=47205343;NT GT ./. 3 47205415 . C . . NT END=47270141;NT GT ./. 3 47205502 rs76496241 CGCGGCGGCG C 177 nt VT=DEL;SST=Single;DP=192;DB;DBA=NA;PAF=CGCGGCGGCG/0.1777,C/0.8223;DB;DBA=NA;PAF=CGCGGCGGCG/0.1777,C/0.8223;NP=141;PC=0.769;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGCGGCGGCG,C:188:121:0:69:124,64:3839,2096:0.00,176.67:0.00,76.20:0.00,100.47:0.00,1.00:0.00,1.00:0.00,1.00:60,70:8.3,12.1:0,4:0,0:99,71:43,73:32,28:-,NM_014159.6(SETD2) c.-53-u44_-53-u36delCGCCGCCGC:-,NOT_FOUND:-,NOT_FOUND 3 47270193 . C . . NT END=47277002;NT GT ./. 3 47276968 rs2276854 C T 74 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.4371,T/0.5629;Gene=KIF9-AS1/NR_033373.1/0;VC=NonCoding;Gene=KIF9/NM_001134878.1/1;CC=c.2322+35G>A;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.2127+35G>A;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.2322+35G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:37:0:0:18,23:570,751:0.00,73.84:0.00,58.60:0.00,15.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.0,38.8:0,0:0,0:22,37:124,114:11,22:-,NM_001134878.1(KIF9) c.2322+35G>A:-,0.57:-,0.570045 3 47277108 . C . . NT END=47277523;NT GT ./. 3 47277458 rs1874264 A G 89 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.04593,G/0.9541;Gene=KIF9-AS1/NR_033373.1/0;VC=NonCoding;Gene=KIF9/NM_001134878.1/1;CC=c.2217+66T>C;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.2022+66T>C;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.2217+66T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:G:27:24:0:0:27:764:88.97:67.75:21.22:1.00:1.00:1.00:60:33.4:0:0:33:118:29:NM_001134878.1(KIF9) c.2217+66T>C,NM_001134878.1(KIF9) c.2217+66T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47277640 . C . . NT END=47277932;NT GT ./. 3 47277885 rs13094438 G A 103 nt VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.5206,A/0.4794;Gene=KIF9-AS1/NR_033373.1/0;VC=NonCoding;Gene=KIF9/NM_001134878.1/1;CC=c.2101+48C>T;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.1906+48C>T;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.2101+48C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:47:0:0:34,26:1051,847:103.47,0.00:72.31,0.00:31.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.9,10.9:0,0:0,0:29,28:121,118:18,11:NM_001134878.1(KIF9) c.2101+48C>T,-:0.5,-:0.485622,- 3 47278110 . C . . NT END=47281052;NT GT ./. 3 47280733 rs73069104 T C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.6963,C/0.3037;PC=0.001;Gene=KIF9-AS1/NR_033373.1/0;VC=NonCoding;Gene=KIF9/NM_001134878.1/1;CC=c.1924+1558A>G;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.1729+1558A>G;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.1924+1558A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,T:5:5:0:0:3,2:104,65:10.37,0.00:10.37,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:34.7,0.0:0,0:0,0:20,31:131,118:8,16:NM_001134878.1(KIF9) c.1924+1558A>G,-:0.3,-:0.318879,- 3 47281406 . C . . NT END=47282290;NT GT ./. 3 47282303 rs2276853 G A 128 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.4399,A/0.5601,T/.;PC=0.574;Gene=KIF9-AS1/NR_033373.1/0;VC=NonCoding;Gene=KIF9/NM_001134878.1/1;CC=c.1912C>T;ProtCh=p.R638W;VC=Missense;Gene=KIF9/NM_022342.4/0;CC=c.1717C>T;ProtCh=p.R573W;VC=Missense;Gene=KIF9/NM_182902.3/0;CC=c.1912C>T;ProtCh=p.R638W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:73:0:0:39,39:1327,1121:127.88,0.00:85.82,0.00:42.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,8.3:0,0:0,0:46,28:104,116:24,25:NM_001134878.1(KIF9) c.1912C>T (p.Arg638Trp),-:0.56,-:0.564432,- 3 47282506 . C . . NT END=47284540;NT GT ./. 3 47284736 . C . . NT END=47286280;NT GT ./. 3 47286227 rs6772449 G T 153 nt VT=SNV;PN=T;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.04593,T/0.9541;Gene=KIF9/NM_001134878.1/1;CC=c.1514+54C>A;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.1514+54C>A;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.1514+54C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:C,T:44:37:0:0:1,43:9,1335:0.16,153.48:0.16,105.41:0.00,48.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,38.9:0,0:0,0:143,47:8,99:0,34:NM_001134878.1(KIF9) c.1514+54C>A,NM_001134878.1(KIF9) c.1514+54C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47286415 . C . . NT END=47286910;NT GT ./. 3 47287002 . C . . NT END=47287686;NT GT ./. 3 47287603 rs35871850 A AT 58 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.04593,AT/0.9541;NP=3058;Gene=KIF9/NM_001134878.1/1;CC=c.1289+83_1289+84insA;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.1289+83_1289+84insA;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.1289+83_1289+84insA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:AT:16:16:16:0:16:505:58.12:53.01:5.11:1.00:1.00:1.00:60:8.1:0:0:60:90:22:NM_001134878.1(KIF9) c.1289+83_1289+84insA,NM_001134878.1(KIF9) c.1289+83_1289+84insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47287743 . C . . NT END=47288862;NT GT ./. 3 47288968 . C . . NT END=47289507;NT GT ./. 3 47289577 . C . . NT END=47298972;NT GT ./. 3 47299051 . C . . NT END=47305775;NT GT ./. 3 47305841 . C . . NT END=47307219;NT GT ./. 3 47305928 rs375742965 TTTTTA T 22 nt VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=TTTTTA/0.6877,T/0.3123;DB;DBA=NA;PAF=TTTTTA/0.6877,T/0.3123;NP=1453;PC=0.971;Gene=KIF9/NM_001134878.1/1;CC=c.917-93_917-89delTAAAA;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.917-93_917-89delTAAAA;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.917-93_917-89delTAAAA;VC=Intron;DM=KIF9/Kinesin;DM=KIF9/Kinesin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTTTTA,T:24:8:0:8:16,8:511,248:0.00,21.99:0.00,8.71:0.00,13.28:0.00,0.99:0.00,0.94:0.00,0.97:60,60:2.0,9.4:0,0:0,0:106,123:45,27:20,7:-,NM_001134878.1(KIF9) c.917-93_917-89delTAAAA:-,0.31:-,NOT_FOUND 3 47307368 . C . . NT END=47308465;NT GT ./. 3 47308559 . C . . NT END=47308669;NT GT ./. 3 47308754 . C . . NT END=47312726;NT GT ./. 3 47312635 rs373964274 AAAAAAG A 15 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=492;Gene=KIF9/NM_001134878.1/1;CC=c.591+86_591+91delCTTTTT;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.591+86_591+91delCTTTTT;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.591+86_591+91delCTTTTT;VC=Intron;DM=KIF9/Kinesin;DM=KIF9/Kinesin;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:160:AAAAAAG,A:13:13:0:5:8,5:237,162:0.00,14.82:0.00,14.82:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:5.2,20.2:0,0:0,0:31,49:119,102:27,19:-,NM_001134878.1(KIF9) c.591+86_591+91delCTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 47312952 . C . . NT END=47315041;NT GT ./. 3 47315149 . C . . NT END=47316814;NT GT ./. 3 47316725 rs903538 G A 65 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;PC=0.024;Gene=KIF9/NM_001134878.1/1;CC=c.259+90C>T;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.259+90C>T;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.259+90C>T;VC=Intron;DM=KIF9/Kinesin;DM=KIF9/Kinesin;DM=KIF9/Kinesin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:17:0:0:18:566:65.18:59.51:5.67:1.00:1.00:1.00:60:39.1:0:0:31:118:20:NM_001134878.1(KIF9) c.259+90C>T,NM_001134878.1(KIF9) c.259+90C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 3 47316981 . C . . NT END=47318771;NT GT ./. 3 47318747 rs924009 T G 80 nt VT=SNV;PN=G;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.03994,G/0.9601;Gene=KIF9/NM_001134878.1/1;CC=c.93+25A>C;VC=Intron;Gene=KIF9/NM_022342.4/0;CC=c.93+25A>C;VC=Intron;Gene=KIF9/NM_182902.3/0;CC=c.93+25A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:21:0:0:22:699:80.33:55.48:24.85:1.00:1.00:1.00:60:41.3:0:0:38:112:21:NM_001134878.1(KIF9) c.93+25A>C,NM_001134878.1(KIF9) c.93+25A>C:0.97,0.97:0.957789,0.957789 3 47318870 . C . . NT END=47323629;NT GT ./. 3 47323876 . C . . NT END=47323984;NT GT ./. 3 47324083 . G . . NT END=47324275;NT GT ./. 3 47324585 . G . . NT END=47361142;NT GT ./. 3 47361082 rs2302278 G T 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=G/0.5389,T/0.4611;PC=0.010;Gene=KLHL18/NM_025010.4/1;CC=c.130-61G>T;VC=Intron;DM=KLHL18/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:48:46:0:1:23,25:762,731:0.00,70.51:0.00,59.69:0.00,10.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.5,66.6:0,0:0,0:36,40:109,108:27,24:-,NM_025010.4(KLHL18) c.130-61G>T:-,NOT_FOUND:-,NOT_FOUND 3 47361274 . G . . NT END=47364057;NT GT ./. 3 47361525 rs546913284 AT A 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AT/0.6999,A/0.3001;NP=3;PC=0.006;Gene=KLHL18/NM_025010.4/1;CC=c.260+269delT;VC=Intron;DM=KLHL18/BTB;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:AT,A:4:0:0:3:1,3:9,100:0.00,10.51:0.00,0.00:0.00,10.51:0.00,0.85:0.00,0.00:0.00,0.85:60,60:30.0,0.0:0,0:0,0:107,83:44,68:0,1:-,NM_025010.4(KLHL18) c.260+253delT:-,NOT_FOUND:-,NOT_FOUND 3 47363971 rs17410853 G T 74 nt VT=SNV;PN=A;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.6873,T/0.3127;Gene=KLHL18/NM_025010.4/1;CC=c.261-87G>T;VC=Intron;DM=KLHL18/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:50:48:0:0:24,26:826,763:0.00,73.56:0.00,62.16:0.00,11.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,44.7:0,0:0,0:28,47:120,103:20,29:-,NM_025010.4(KLHL18) c.261-87G>T:-,0.3:-,NOT_FOUND 3 47364199 . G . . NT END=47371440;NT GT ./. 3 47371640 . G . . NT END=47374646;NT GT ./. 3 47374808 . G . . NT END=47376172;NT GT ./. 3 47375955 rs295449 G A 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5234,A/0.4766;PC=0.004;Gene=KLHL18/NM_025010.4/1;CC=c.762-218G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:5:0:0:3,2:75,68:7.44,0.00:7.44,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:39.0,0.0:0,0:0,0:31,35:120,114:22,24:NM_025010.4(KLHL18) c.762-218G>A,-:0.5,-:NOT_FOUND,- 3 47376095 rs295450 A G 130 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.04573,G/0.9543;Gene=KLHL18/NM_025010.4/1;CC=c.762-78A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:37:0:0:37:1128:130.35:118.09:12.26:1.00:1.00:1.00:60:42.5:0:0:35:116:23:NM_025010.4(KLHL18) c.762-78A>G,NM_025010.4(KLHL18) c.762-78A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47376310 . G . . NT END=47378009;NT GT ./. 3 47378248 . G . . NT END=47382046;NT GT ./. 3 47378467 rs295452 A G,T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DM=KLHL18/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:63:G,T:4:0:0:0:2,2:66,66:6.95,6.95:0.00,0.00:6.95,6.95:0.00,0.51:0.00,0.00:0.00,0.51:60,60:47.0,33.0:0,0:0,0:127,117:23,34:15,8:NM_025010.4(KLHL18) c.1121+220A>G,NM_025010.4(KLHL18) c.1121+220A>T:0.94,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47382167 . G . . NT END=47384208;NT GT ./. 3 47384321 . G . . NT END=47385044;NT GT ./. 3 47384925 rs295457 G T 63 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.04712,T/0.9529;Gene=KLHL18/NM_025010.4/1;CC=c.1339-120G>T;VC=Intron;DM=KLHL18/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:T:20:20:0:0:20:542:63.49:61.60:1.89:1.00:1.00:1.00:60:58.1:0:0:63:88:32:NM_025010.4(KLHL18) c.1339-120G>T,NM_025010.4(KLHL18) c.1339-120G>T:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47385432 . G . . NT END=47422382;NT GT ./. 3 47385585 rs295458 C A 46 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.5234,A/0.4766;Gene=KLHL18/NM_025010.4/1;CC=c.*154C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,C:21:2:0:0:15,6:443,187:45.96,0.00:1.39,0.00:44.57,0.00:1.00,0.00:0.93,0.00:1.00,0.00:60,60:49.9,38.7:0,0:0,0:101,67:50,69:37,24:NM_025010.4(KLHL18) c.*154C>A,-:0.5,-:NOT_FOUND,- 3 47422152 rs922957 G C 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.595,C/0.405 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:C,G:10:10:0:0:6,4:197,102:19.65,0.00:19.65,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:45.3,28.2:0,0:0,0:34,17:115,134:14,13:NM_015466.2(PTPN23) c.-96-u339G>C,-:0.41,-:NOT_FOUND,- 3 47422671 . G . . NT END=47437632;NT GT ./. 3 47437449 rs900693 C A 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=PTPN23/NM_001304482.1/0;CC=c.-166-184C>A;VC=Intron;Gene=PTPN23/NM_015466.3/1;CC=c.85-184C>A;VC=Intron;DM=PTPN23/BRO1;DM=PTPN23/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:227:26.04:26.04:0.00:1.00:1.00:0.00:60:43.7:0:0:78:73:26:NM_015466.2(PTPN23) c.85-184C>A,NM_015466.2(PTPN23) c.85-184C>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47437456 rs5848830 CGTG C 9 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CGTG/0.597,C/0.403;DB;DBA=NA;PAF=CGTG/0.597,C/0.403;NP=871;PC=0.004;Gene=PTPN23/NM_001304482.1/0;CC=c.-166-174_-166-172delGGT;VC=Intron;Gene=PTPN23/NM_015466.3/1;CC=c.85-174_85-172delGGT;VC=Intron;DM=PTPN23/BRO1;DM=PTPN23/BRO1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:CGTG,C:8:8:0:3:5,3:175,96:0.00,8.73:0.00,8.73:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,70:47.8,22.3:0,0:0,0:111,61:38,90:6,17:-,NM_015466.2(PTPN23) c.85-176_85-174delGTG:-,NOT_FOUND:-,NOT_FOUND 3 47437708 . G . . NT END=47446141;NT GT ./. 3 47446270 . G . . NT END=47446494;NT GT ./. 3 47446331 rs138935440 C T 114 nt VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.9932,T/0.006789;Gene=PTPN23/NM_001304482.1/0;CC=c.-91-164C>T;VC=Intron;Gene=PTPN23/NM_015466.3/1;CC=c.287+62C>T;VC=Intron;DM=PTPN23/BRO1;DM=PTPN23/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:61:30:0:0:23,1,37:727,11,1140:0.00,0.03,114.19:0.00,0.13,33.84:0.00,-0.11,80.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:3.7,25.0,39.9:0,0,0:0,0,0:101,111,100:50,39,47:28,0,27:-,NM_015466.2(PTPN23) c.287+62C>T:-,0.01:-,NOT_FOUND 3 47446572 . G . . NT END=47447238;NT GT ./. 3 47447289 . G . . NT END=47447404;NT GT ./. 3 47447537 . G . . NT END=47447814;NT GT ./. 3 47447673 rs13077134 C G 153 nt VT=SNV;PN=C;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.04633,G/0.9537;Gene=PTPN23/NM_001304482.1/0;CC=c.168+137C>G;VC=Intron;Gene=PTPN23/NM_015466.3/1;CC=c.546+137C>G;VC=Intron;DM=PTPN23/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:G:43:18:0:0:43:1328:153.29:60.08:93.21:1.00:1.00:1.00:60:53.7:0:0:74:77:31:NM_015466.2(PTPN23) c.546+137C>G,NM_015466.2(PTPN23) c.546+137C>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47447896 . G . . NT END=47447970;NT GT ./. 3 47448103 . G . . NT END=47448192;NT GT ./. 3 47448241 . G . . NT END=47448619;NT GT ./. 3 47448677 . G . . NT END=47448798;NT GT ./. 3 47448858 . G . . NT END=47448994;NT GT ./. 3 47449058 rs900688 T C 202 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.04613,C/0.9539;PC=0.987;Gene=PTPN23/NM_001304482.1/0;CC=c.609T>C;ProtCh=p.T203=;VC=Silent;Gene=PTPN23/NM_015466.3/1;CC=c.987T>C;ProtCh=p.T329=;VC=Silent;DM=PTPN23/BRO1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:C:57:38:0:0:57:1747:201.78:110.01:91.77:1.00:1.00:1.00:60:47.9:0:0:85:64:29:NM_015466.2(PTPN23) c.987T>C (p.(=)),NM_015466.2(PTPN23) c.987T>C (p.(=)):0.96,0.96:0.949254,0.949254 3 47449075 . G . . NT END=47449186;NT GT ./. 3 47449302 . G . . NT END=47449379;NT GT ./. 3 47449446 . G . . NT END=47449834;NT GT ./. 3 47449580 rs1531874 T C 109 nt VT=SNV;PN=C;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.04513,C/0.9549;Gene=PTPN23/NM_001304482.1/0;CC=c.806+135T>C;VC=Intron;Gene=PTPN23/NM_015466.3/1;CC=c.1184+135T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C:31:10:0:0:31:942:108.97:37.47:71.50:1.00:1.00:1.00:60:36.8:0:0:83:68:45:NM_015466.2(PTPN23) c.1184+135T>C,NM_015466.2(PTPN23) c.1184+135T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47449981 . G . . NT END=47450265;NT GT ./. 3 47450578 . G . . NT END=47450652;NT GT ./. 3 47450808 . G . . NT END=47450906;NT GT ./. 3 47451059 . G . . NT END=47451144;NT GT ./. 3 47451325 . G . . NT END=47451417;NT GT ./. 3 47451411 rs3736177 C T 223 nt VT=SNV;PN=T;NN=G;SST=Single;DP=159;DB;DBA=NA;PAF=C/0.5994,T/0.4006;Gene=PTPN23/NM_001304482.1/0;CC=c.1752-7C>T;VC=Intron;Gene=PTPN23/NM_015466.3/1;CC=c.2130-7C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:159:118:0:0:86,73:2698,2353:0.00,222.51:0.00,131.80:0.00,90.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,40.6:0,0:0,0:73,54:69,91:45,32:-,NM_015466.2(PTPN23) c.2130-7C>T:-,0.4:-,0.358968 3 47452087 rs900689 G A 331 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.04513,A/0.9549,T/.;Gene=PTPN23/NM_001304482.1/0;CC=c.2421G>A;ProtCh=p.P807=;VC=Silent;Gene=PTPN23/NM_015466.3/1;CC=c.2799G>A;ProtCh=p.P933=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:48:0:0:90:2887:331.44:130.03:201.41:1.00:1.00:1.00:60:63.4:0:0:60:89:36:NM_015466.2(PTPN23) c.2799G>A (p.(=)),NM_015466.2(PTPN23) c.2799G>A (p.(=)):0.96,0.96:0.951062,0.951062 3 47452118 rs6780013 G A 120 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=G/0.6548,A/0.3452;Gene=PTPN23/NM_001304482.1/0;CC=c.2452G>A;ProtCh=p.A818T;VC=Missense;Gene=PTPN23/NM_015466.3/1;CC=c.2830G>A;ProtCh=p.A944T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:80:51:0:0:39,40,1:1253,1233,10:120.22,0.00,-0.09:53.24,0.00,-0.10:66.98,0.00,0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:96.5,42.8,53.0:0,0,0:0,0,0:53,67,57:86,73,49:31,25,0:NM_015466.2(PTPN23) c.2830G>A (p.Ala944Thr),-:0.34,-:0.348147,- 3 47452786 rs1531875 G A 200 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.5411,A/0.4589;PC=1.000;Gene=PTPN23/NM_001304482.1/0;CC=c.3120G>A;ProtCh=p.E1040=;VC=Silent;Gene=PTPN23/NM_015466.3/1;CC=c.3498G>A;ProtCh=p.E1166=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:129:79:0:0:68,61:2062,2091:199.81,0.00:109.28,0.00:90.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.3,4.0:0,0:0,0:63,70:88,67:34,34:NM_015466.2(PTPN23) c.3498G>A (p.(=)),-:0.48,-:0.485226,- 3 47453177 . G . . NT END=47453272;NT GT ./. 3 47453458 . G . . NT END=47453583;NT GT ./. 3 47453689 . G . . NT END=47453772;NT GT ./. 3 47453912 . G . . NT END=47454003;NT GT ./. 3 47454118 . G . . NT END=47454195;NT GT ./. 3 47454399 rs6789730 G A,C 87 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.125 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:51:A,C,G,T:43:13:0:0:33,7,2,1:763,119,13,13:86.92,9.73,0.00,0.34:13.22,7.85,0.00,-0.02:73.70,1.88,0.00,0.36:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:31.4,31.7,29.0,76.0:0,0,2,0:0,0,0,0:107,118,122,70:44,8,8,81:26,8,20,0:NM_015466.2(PTPN23) c.4635G>A (p.(=)),NM_015466.2(PTPN23) c.4635G>C (p.(=)):0.96,NOT_FOUND:0.954749,NOT_FOUND 3 47454676 . A . . NT END=47455343;NT GT ./. 3 47455086 rs4858868 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.5409,A/0.4591 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:6:5:0:0:4,2:112,64:11.39,0.00:10.35,0.00:1.04,0.00:0.93,0.00:0.99,0.00:0.78,0.00:60,60:53.0,0.0:0,0:0,0:68,71:79,79:30,23:chr3 g.47455085G>A (intergenic),-:0.48,-:NOT_FOUND,- 3 47455590 . C . . NT END=47455669;NT GT ./. 3 47455877 . C . . NT END=47456061;NT GT ./. 3 47456143 . C . . NT END=47456316;NT GT ./. 3 47456225 rs6442066 T C 278 nt VT=SNV;PN=A;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.02017,C/0.9798;Gene=SCAP/NM_012235.2/1;CC=c.3307-83A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:79:45:0:0:77,1,1:2434,12,11:277.92,0.19,0.00:143.07,0.19,0.00:134.85,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.9,24.0,90.0:0,0,0:0,0,0:72,118,28:79,33,121:45,0,0:NM_012235.2(SCAP) c.3307-83A>G,NM_012235.2(SCAP) c.3307-83A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 47456484 . C . . NT END=47456587;NT GT ./. 3 47456671 . C . . NT END=47458611;NT GT ./. 3 47458698 . C . . NT END=47458793;NT GT ./. 3 47458995 . C G 188 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=146;PC=0.006;Gene=SCAP/NM_012235.2/1;CC=c.2769G>C;ProtCh=p.E923D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:146:102:0:0:1,79,66:9,2540,2001:-0.18,0.00,188.13:-0.12,0.00,109.97:-0.07,0.00,78.17:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:100.0,7.1,39.8:0,0,0:0,0,0:38,75,50:113,74,100:0,30,37:-,NM_012235.2(SCAP) c.2769G>C (p.Glu923Asp):-,NOT_FOUND:-,NOT_FOUND 3 47459317 . C . . NT END=47459623;NT GT ./. 3 47459372 . G GCA 9 nt VT=INS;SST=Single;DP=9;NP=6;PC=0.008;Gene=SCAP/NM_012235.2/1;CC=c.2448-57_2448-56insTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:G,GCA:9:6:3:0:6,3:181,98:0.00,8.75:0.00,9.27:0.00,-0.53:0.00,0.64:0.00,0.89:0.00,0.73:60,60:110.5,57.0:0,0:0,0:139,125:7,26:5,0:-,NM_012235.2(SCAP) c.2448-57_2448-56insTG:-,NOT_FOUND:-,NOT_FOUND 3 47459380 rs113251658 C G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.7216,G/0.2784;NP=5;Gene=SCAP/NM_012235.2/1;CC=c.2448-64G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:1:5:146:16.96:16.96:0.00:1.00:1.00:0.00:60:63.8:1:0:135:16:11:NM_012235.2(SCAP) c.2448-64G>C,NM_012235.2(SCAP) c.2448-64G>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47459564 rs148152356 CG C 38 rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=CG/0.5962,C/0.4038;NP=18;Gene=SCAP/NM_012235.2/1;CC=c.2447+59delC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CG,G,C:43:43:0:15:1,27,1,14:11,818,9,423:-0.02,0.00,-0.11,37.55:-0.02,0.00,-0.11,37.55:0.00,0.00,0.00,0.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00:60,60,60,60:198.0,33.6,154.0,11.6:0,0,0,0:0,0,0,0:15,40,95,22:136,108,56,128:0,28,0,17:-,NM_012235.2(SCAP) c.2447+59delC:-,NOT_FOUND:-,NOT_FOUND 3 47459679 rs12487736 C T 171 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=C/0.5477,T/0.4523;PC=1.000;Gene=SCAP/NM_012235.2/1;CC=c.2392G>A;ProtCh=p.V798I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:125:112:0:0:68,57:2201,1816:0.00,171.42:0.00,121.44:0.00,49.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.3,41.6:0,0:0,0:64,56:82,89:37,37:-,NM_012235.2(SCAP) c.2392G>A (p.Val798Ile):-,0.48:-,0.46792 3 47459740 . C . . NT END=47459810;NT GT ./. 3 47460013 . C . . NT END=47460144;NT GT ./. 3 47460334 . C . . NT END=47460817;NT GT ./. 3 47461195 . C . . NT END=47462043;NT GT ./. 3 47462200 rs900690 T C 431 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=112;DB;DBA=NA;PAF=T/0.04493,C/0.9551;PC=0.986;Gene=SCAP/NM_012235.2/1;CC=c.1407A>G;ProtCh=p.G469=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:112:86:0:0:112:3774:430.77:234.43:196.34:1.00:1.00:1.00:60:39.2:0:0:80:69:38:NM_012235.2(SCAP) c.1407A>G (p.(=)),NM_012235.2(SCAP) c.1407A>G (p.(=)):0.96,0.96:0.9507,0.9507 3 47462263 . C . . NT END=47462420;NT GT ./. 3 47462520 . C . . NT END=47463931;NT GT ./. 3 47462587 rs900691 A G 114 nt VT=SNV;PN=T;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.02416,G/0.9758;Gene=SCAP/NM_012235.2/1;CC=c.1246-68T>C;VC=Intron;DM=SCAP/Sterol-sensing GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:72:G,T:31:9:0:0:30,1:1003,10:114.12,0.26:17.93,0.00:96.19,0.26:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,155.0:0,0:0,0:109,123:37,28:20,0:NM_012235.2(SCAP) c.1246-68T>C,NM_012235.2(SCAP) c.1246-68T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 47464027 . C . . NT END=47465422;NT GT ./. 3 47464122 rs1038394 A G 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.5407,G/0.4593;Gene=SCAP/NM_012235.2/1;CC=c.1151-96T>C;VC=Intron;DM=SCAP/Sterol-sensing GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:30:4:0:0:14,16:443,517:0.00,50.33:0.00,5.19:0.00,45.14:0.00,1.00:0.00,0.95:0.00,1.00:60,60:7.0,42.5:0,0:0,0:110,90:41,60:22,24:-,NM_012235.2(SCAP) c.1151-96T>C:-,0.48:-,NOT_FOUND 3 47465536 . C . . NT END=47466974;NT GT ./. 3 47467102 . C . . NT END=47467486;NT GT ./. 3 47467660 . C . . NT END=47468646;NT GT ./. 3 47468753 . C . . NT END=47468936;NT GT ./. 3 47469158 . C . . NT END=47470002;NT GT ./. 3 47470161 . C . . NT END=47476497;NT GT ./. 3 47476628 . C . . NT END=47484361;NT GT ./. 3 47476955 rs55946521 AACATACAC A 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=47;PC=0.004;Gene=SCAP/NM_012235.2/1;CC=c.123-336_123-329delGTGTATGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:AACATACAC,A:5:2:0:3:2,3:43,91:0.00,9.09:0.00,1.38:0.00,7.71:0.00,0.78:0.00,0.87:0.00,0.97:60,70:38.5,18.0:0,0:0,0:50,100:101,51:36,2:-,NM_012235.2(SCAP) c.123-336_123-329delGTGTATGT:-,NOT_FOUND:-,NOT_FOUND 3 47477019 rs12632132 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5397,T/0.4603;PC=0.065;Gene=SCAP/NM_012235.2/1;CC=c.123-392G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:C,T:7:6:0:0:4,3:105,85:0.00,7.86:0.00,6.69:0.00,1.17:0.00,0.69:0.00,0.95:0.00,0.89:60,60:34.2,41.3:0,0:0,0:69,60:66,86:9,24:-,NM_012235.2(SCAP) c.123-392G>A:-,0.48:-,NOT_FOUND 3 47484126 rs900692 G A,C 15 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.04633,C/0.9537 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:A,C:5:5:0:0:1,4:13,135:1.09,15.02:1.09,15.02:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:56.0,33.8:0,0:0,0:0,24:151,125:0,13:NM_012235.2(SCAP) c.122+236C>T,NM_012235.2(SCAP) c.122+236C>G:NOT_FOUND,0.96:NOT_FOUND,NOT_FOUND 3 47484582 . C . . NT END=47537558;NT GT ./. 3 47484723 rs532381649 TACACACACAC T 9 idl,nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=TACACACACAC/0.1244,T/0.8756;NP=15;Gene=SCAP/NM_012235.2/1;CC=c.-98-152_-98-143delGTGTGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:TACACACACAC,T:7:0:0:6:3,4:73,141:0.00,9.03:0.00,0.00:0.00,9.03:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,103.2:0,2:0,0:123,88:28,60:16,5:-,NM_012235.2(SCAP) c.-98-152_-98-143delGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 47537985 . G GT 27 idl,rn VT=INS;SST=Single;DP=120;NP=1;Gene=ELP6/NM_001031703.2/1;CC=c.673-299_673-298insA;VC=Intron;DM=ELP6/ELP6;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,C,G,T,GT,D:110:54:17:17:1,1,82,2,12,12:10,10,2671,65,527,524:-0.20,-0.20,0.00,3.31,27.49,26.89:-0.10,-0.10,0.00,-0.21,5.64,12.29:-0.10,-0.10,0.00,3.53,21.85,14.61:0.00,0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,0.00,0.98,0.00:0.00,0.00,0.00,0.00,1.00,0.00:51,60,60,60,60,60:89.0,163.0,27.4,152.5,33.6,51.8:0,0,0,1,5,5:0,0,0,0,0,0:14,102,110,113,76,83:92,23,27,38,71,67:0,0,26,6,17,29:-,NM_001031703.2(ELP6) c.673-299_673-298insA:-,NOT_FOUND:-,NOT_FOUND 3 47537999 . t . . NT END=47538262;NT GT ./. 3 47538393 . T . . NT END=47538589;NT GT ./. 3 47538846 . a . . NT END=47539408;NT GT ./. 3 47539106 rs6762177 T C 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.04433,C/0.9557;Gene=ELP6/NM_001031703.2/1;CC=c.672+670A>G;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:2:0:0:7:200:23.33:7.65:15.68:1.00:1.00:1.00:60:72.0:0:0:105:45:25:NM_001031703.2(ELP6) c.672+670A>G,NM_001031703.2(ELP6) c.672+670A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 47539419 . TA T 13 idl,rn VT=DEL;SST=Single;DP=62;PC=0.005;Gene=ELP6/NM_001031703.2/1;CC=c.672+356delT;VC=Intron;DM=ELP6/ELP6;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:TA,I,T:61:49:2:7:53,2,6:1693,63,216:0.00,3.52,12.75:0.00,3.76,2.35:0.00,-0.24,10.39:0.00,0.00,0.82:0.00,0.00,0.97:0.00,0.00,0.88:60,60,60:10.5,36.0,6.8:0,0,1:0,0,0:44,90,52:96,61,83:29,7,11:-,NM_001031703.2(ELP6) c.672+356delT:-,NOT_FOUND:-,NOT_FOUND 3 47539475 . G . . NT END=47539775;NT GT ./. 3 47539702 rs12495169 T C 103 nt VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=T/0.7694,C/0.2306;Gene=ELP6/NM_001031703.2/1;CC=c.672+74A>G;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:85:67:0:0:37,1,47:1109,5,1497:103.50,-0.22,0.00:78.99,-0.14,0.00:24.51,-0.08,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.0,28.0,36.9:0,0,0:0,0,0:64,103,56:86,48,94:30,0,31:NM_001031703.2(ELP6) c.672+74A>G,-:0.23,-:NOT_FOUND,- 3 47539751 rs2170814 T C 428 nt VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.04293,C/0.9571,G/.;Gene=ELP6/NM_001031703.2/1;CC=c.672+25A>G;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:122:103:0:0:121,1:3724,10:428.04,0.00:298.09,0.00:129.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.1,38.0:0,0:0,0:58,62:89,89:36,0:NM_001031703.2(ELP6) c.672+25A>G,NM_001031703.2(ELP6) c.672+25A>G:0.96,0.96:0.954004,0.954004 3 47539929 . C . . NT END=47540042;NT GT ./. 3 47539969 rs13059519 C T 249 nt VT=SNV;PN=A;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=C/0.5413,T/0.4587;Gene=ELP6/NM_001031703.2/1;CC=c.526-47G>A;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:167:111:0:0:1,84,82:11,2718,2594:-0.14,0.00,248.51:-0.11,0.00,134.31:-0.03,0.00,114.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:90.0,6.3,43.1:0,0,0:0,0,0:56,90,72:95,58,78:0,39,37:-,NM_001031703.2(ELP6) c.526-47G>A:-,0.48:-,0.483101 3 47540190 . C . . NT END=47541235;NT GT ./. 3 47540917 rs7651194 G A 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5409,A/0.4591;PC=0.022;Gene=ELP6/NM_001031703.2/1;CC=c.526-995C>T;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,G:5:5:0:0:3,2:97,67:9.67,0.00:9.67,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:61.0,0.0:0,0:0,0:51,62:99,85:12,42:NM_001031703.2(ELP6) c.526-995C>T,-:0.48,-:NOT_FOUND,- 3 47541026 rs9814859 A T,AAT 11 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.02736,AT/0.9726;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=110;NP=125;NP=91;PC=0.146;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:17:A,T,AAT:9:10:4:0:3,4,2:36,117,115:0.00,11.28,4.92:0.00,11.28,1.88:0.00,0.00,3.04:0.00,0.82,0.00:0.00,0.98,0.00:0.00,0.58,0.00:60,60,60:64.0,40.0,147.0:0,0,2:0,0,0:44,14,60:107,136,89:17,9,30:NM_001031703.2(ELP6) c.526-1104T>A,NM_001031703.2(ELP6) c.526-1105_526-1104insAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47541183 rs11368069 CA C 62 idl,rn VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=NA;PC=0.224;Gene=ELP6/NM_001031703.2/1;CC=c.526-1262delT;VC=Intron;DM=ELP6/ELP6;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:53:59:2:29:1,28,2,22:10,917,56,892:-0.05,0.00,3.20,62.46:-0.20,0.00,3.21,60.99:0.15,0.00,-0.01,1.47:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.84:60,60,60,60:23.0,37.3,78.5,46.5:0,0,0,7:0,0,0,0:18,47,20,43:133,99,130,106:0,24,17,21:-,NM_001031703.2(ELP6) c.526-1262delT:-,NOT_FOUND:-,NOT_FOUND 3 47541383 . A . . NT END=47541562;NT GT ./. 3 47541710 . T . . NT END=47543139;NT GT ./. 3 47541800 rs4383546 G A 132 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.1298,A/0.8702;PC=0.024;Gene=ELP6/NM_001031703.2/1;CC=c.525+1340C>T;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:6:0:0:37:1144:131.97:13.86:118.12:1.00:1.00:1.00:60:42.2:0:0:98:53:40:NM_001031703.2(ELP6) c.525+1340C>T,NM_001031703.2(ELP6) c.525+1340C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 3 47542894 rs6765990 G A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5413,A/0.4587;Gene=ELP6/NM_001031703.2/1;CC=c.525+246C>T;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:7:7:0:0:4,3:100,90:9.78,0.00:9.78,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:44.0,28.0:0,0:0,0:20,23:130,128:11,8:NM_001031703.2(ELP6) c.525+246C>T,-:0.48,-:NOT_FOUND,- 3 47543348 . A . . NT END=47543844;NT GT ./. 3 47543389 rs3816779 G A 135 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.5457,A/0.4543;PC=0.001;Gene=ELP6/NM_001031703.2/1;CC=c.324-48C>T;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:28:0:0:42,28:1354,947:134.93,0.00:33.81,0.00:101.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,10.0:0,0:0,0:108,108:39,41:26,15:NM_001031703.2(ELP6) c.324-48C>T,-:0.48,-:0.482461,- 3 47543905 rs56272855 CAAAAAAAAA C 60 idl VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=25;PC=0.191;Gene=ELP6/NM_001031703.2/1;CC=c.324-573_324-565delTTTTTTTTT;VC=Intron;DM=ELP6/ELP6;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAAAAAAAAA,I,C:41:50:3:34:19,2,20:662,100,916:0.00,4.41,60.30:0.00,4.43,54.53:0.00,-0.02,5.77:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.91:60,60,60:33.5,49.5,21.8:0,1,9:0,0,0:95,59,52:53,90,99:30,15,22:-,NM_001031703.2(ELP6) c.324-573_324-565delTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 47544003 rs17784882 C A 145 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=C/0.6552,A/0.3448;Gene=ELP6/NM_001031703.2/1;CC=c.324-662G>T;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:103:73:0:0:47,56:1529,1818:144.50,0.00:74.27,0.00:70.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,12.0:0,0:0,0:74,78:72,61:20,30:NM_001031703.2(ELP6) c.324-662G>T,-:0.34,-:NOT_FOUND,- 3 47544047 . g . . NT END=47544599;NT GT ./. 3 47544802 . G . . NT END=47544926;NT GT ./. 3 47544943 . a . . NT END=47545819;NT GT ./. 3 47545164 rs11713413 G A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6554,A/0.3446;Gene=ELP6/NM_001031703.2/1;CC=c.323+656C>T;VC=Intron;DM=ELP6/ELP6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:117:A,G:9:0:0:0:5,4:154,114:15.09,0.00:0.00,0.00:15.09,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:47.8,25.5:0,0:0,0:89,93:61,57:24,32:NM_001031703.2(ELP6) c.323+656C>T,-:0.33,-:NOT_FOUND,- 3 47545945 . A . . NT END=47546086;NT GT ./. 3 47546206 . g . . NT END=47551673;NT GT ./. 3 47551745 . C . . NT END=47552637;NT GT ./. 3 47552723 . G . . NT END=47552904;NT GT ./. 3 47552984 . T . . NT END=47553342;NT GT ./. 3 47553422 . c . . NT END=47553460;NT GT ./. 3 47553532 . C . . NT END=47554097;NT GT ./. 3 47554177 . C . . NT END=47554424;NT GT ./. 3 47554481 rs397714399 CT C 66 idl,rn VT=DEL;SST=Single;DP=114;DB;DBA=NA;PAF=CT/0.4187,C/0.5813;DB;DBA=NA;PAF=CT/0.4187,C/0.5813;NP=30;PC=0.084;Gene=ELP6/NM_001031703.2/1;CC=c.54+545delA;VC=Intron;DM=ELP6/ELP6;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:102:69:11:39:62,3,10,27:1983,51,331,1103:0.00,1.74,21.96,66.14:0.00,-0.34,6.24,17.66:0.00,2.07,15.71,48.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:16.2,92.7,8.9,47.0:0,1,1,11:0,0,0,0:105,120,92,80:18,31,58,59:25,1,20,28:-,NM_001031703.2(ELP6) c.54+545delA:-,NOT_FOUND:-,NOT_FOUND 3 47554504 . g . . NT END=47554760;NT GT ./. 3 47555081 . T . . NT END=47604089;NT GT ./. 3 47555142 rs2291298 C A 145 nt VT=SNV;PN=G;NN=T;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.4822,A/0.5178,G/.;Gene=ELP6/NM_001031703.2/1;CC=c.-62G>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:85:33:0:0:47,38:1478,1237:144.84,0.00:38.84,0.00:106.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,10.8:0,0:0,0:94,96:56,50:29,31:NM_001031703.2(ELP6) c.-62G>T,-:0.55,-:0.501971,- 3 47604252 . C . . NT END=47610560;NT GT ./. 3 47604270 rs144390955 TG T 13 rn VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=NA;NP=148;PC=0.002;Gene=CSPG5/NM_001206943.1/0;CC=c.1540-20delC;VC=Intron;Gene=CSPG5/NM_001206944.1/0;CC=c.1383-20delC;VC=Intron;Gene=CSPG5/NM_006574.3/0;CC=c.1459-20delC;VC=Intron;Gene=CSPG5/NM_001206942.1/0;CC=c.1045-20delC;VC=Intron;Gene=CSPG5/NM_001206945.1/1;CC=c.1126-20delC;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:G,TG,I,T:77:32:2:6:3,66,2,6:35,1864,52,186:0.15,0.00,2.26,12.51:-0.38,0.00,-0.25,9.40:0.53,0.00,2.52,3.11:0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.82:0.00,0.00,0.00,0.95:60,60,60,60:79.7,48.7,80.0,27.3:0,0,0,0:0,0,0,0:44,96,66,110:82,51,79,40:25,24,39,20:-,NM_001206945.1(CSPG5) c.1126-20delC:-,NOT_FOUND:-,NOT_FOUND 3 47604299 rs4858839 C T 223 nt VT=SNV;PN=A;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=C/0.03435,T/0.9657;Gene=CSPG5/NM_001206943.1/0;CC=c.1540-48G>A;VC=Intron;Gene=CSPG5/NM_001206944.1/0;CC=c.1383-48G>A;VC=Intron;Gene=CSPG5/NM_006574.3/0;CC=c.1459-48G>A;VC=Intron;Gene=CSPG5/NM_001206942.1/0;CC=c.1045-48G>A;VC=Intron;Gene=CSPG5/NM_001206945.1/1;CC=c.1126-48G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:T:60:19:0:0:60:1945:223.03:48.19:174.84:1.00:1.00:1.00:60:60.4:0:0:112:35:23:NM_001206945.1(CSPG5) c.1126-48G>A,NM_001206945.1(CSPG5) c.1126-48G>A:0.97,0.97:0.955414,0.955414 3 47604498 rs1471711 T G 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.09085,G/0.9091;PC=0.068;Gene=CSPG5/NM_001206943.1/0;CC=c.1540-247A>C;VC=Intron;Gene=CSPG5/NM_001206944.1/0;CC=c.1383-247A>C;VC=Intron;Gene=CSPG5/NM_006574.3/0;CC=c.1459-247A>C;VC=Intron;Gene=CSPG5/NM_001206942.1/0;CC=c.1045-247A>C;VC=Intron;Gene=CSPG5/NM_001206945.1/1;CC=c.1126-247A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:259:29.71:0.00:29.71:1.00:0.00:1.00:60:36.5:0:0:91:59:16:NM_001206945.1(CSPG5) c.1126-247A>C,NM_001206945.1(CSPG5) c.1126-247A>C:0.93,0.93:NOT_FOUND,NOT_FOUND 3 47610718 . C . . NT END=47614175;NT GT ./. 3 47614365 . C . . NT END=47618322;NT GT ./. 3 47619419 . C . . NT END=47620086;NT GT ./. 3 47620184 . g . . NT END=47629698;NT GT ./. 3 47629797 . C . . NT END=47632150;NT GT ./. 3 47632328 . C . . NT END=47651555;NT GT ./. 3 47651818 . C . . NT END=47663696;NT GT ./. 3 47652120 rs61675361 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7161,C/0.2839;PC=0.001;Gene=SMARCC1/NM_003074.3/1;CC=c.2782-303A>G;VC=Intron;DM=SMARCC1/SWIRM-assoc_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:153:17.68:0.00:17.68:1.00:0.00:1.00:60:30.6:0:0:118:32:16:NM_003074.3(SMARCC1) c.2782-303A>G,NM_003074.3(SMARCC1) c.2782-303A>G:0.25,0.25:NOT_FOUND,NOT_FOUND 3 47663832 . C . . NT END=47676679;NT GT ./. 3 47676835 . C . . NT END=47677511;NT GT ./. 3 47677627 . C . . NT END=47680214;NT GT ./. 3 47678278 . ATGTGTG A 9 idl,rn VT=DEL;SST=Single;DP=5;NP=1;PC=0.002;Gene=SMARCC1/NM_003074.3/1;CC=c.2377-658_2377-653delCACACA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:5:3:150:9.26:6.11:3.15:0.78:0.97:0.94:60:32.0:2:0:33:105:12:NM_003074.3(SMARCC1) c.2377-658_2377-653delCACACA,NM_003074.3(SMARCC1) c.2377-658_2377-653delCACACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47680066 rs12633923 C T 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.09105,T/0.9089;Gene=SMARCC1/NM_003074.3/1;CC=c.2376+149G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:349:39.67:39.67:0.00:1.00:1.00:0.00:60:39.4:0:0:89:59:27:NM_003074.3(SMARCC1) c.2376+149G>A,NM_003074.3(SMARCC1) c.2376+149G>A:0.93,0.93:NOT_FOUND,NOT_FOUND 3 47680271 . C . . NT END=47702783;NT GT ./. 3 47702946 . C . . NT END=47703823;NT GT ./. 3 47704083 . C . . NT END=47712147;NT GT ./. 3 47704222 rs9840859 G T 62 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.04173,T/0.9583;PC=0.006;Gene=SMARCC1/NM_003074.3/1;CC=c.1900-140C>A;VC=Intron;DM=SMARCC1/Myb_DNA-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:T:17:0:0:0:17:534:61.50:0.00:61.50:1.00:0.00:1.00:60:33.9:0:0:104:46:27:NM_003074.3(SMARCC1) c.1900-140C>A,NM_003074.3(SMARCC1) c.1900-140C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47712208 . C . . NT END=47716964;NT GT ./. 3 47717079 . C . . NT END=47718118;NT GT ./. 3 47718273 . C . . NT END=47719687;NT GT ./. 3 47719802 . C . . NT END=47721926;NT GT ./. 3 47721999 . C . . NT END=47727538;NT GT ./. 3 47727661 . C . . NT END=47730876;NT GT ./. 3 47730915 . C . . NT END=47734730;NT GT ./. 3 47734700 rs12635438 A G 93 nt VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.7165,G/0.2835;PC=0.002;Gene=SMARCC1/NM_003074.3/1;CC=c.1225+31T>C;VC=Intron;DM=SMARCC1/SWIRM-assoc_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:G,T:27:21:0:0:26,1:810,19:92.88,0.99:56.74,0.99:36.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,181.0:0,0:0,0:32,109:118,28:14,0:NM_003074.3(SMARCC1) c.1225+31T>C,NM_003074.3(SMARCC1) c.1225+31T>C:0.25,0.25:0.269799,0.269799 3 47734791 . C . . NT END=47742767;NT GT ./. 3 47742893 . C . . NT END=47747898;NT GT ./. 3 47748021 . C . . NT END=47752172;NT GT ./. 3 47751998 rs2047558 T C 32 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.04173,C/0.9583;Gene=SMARCC1/NM_003074.3/1;CC=c.918+175A>G;VC=Intron;DM=SMARCC1/SWIRM-assoc_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:282:32.02:32.02:0.00:1.00:1.00:0.00:60:36.2:0:0:35:115:18:NM_003074.3(SMARCC1) c.918+175A>G,NM_003074.3(SMARCC1) c.918+175A>G:0.96,0.96:NOT_FOUND,NOT_FOUND 3 47752299 . C . . NT END=47755904;NT GT ./. 3 47755981 . C . . NT END=47762155;NT GT ./. 3 47762226 . C . . NT END=47770514;NT GT ./. 3 47770585 . C . . NT END=47777523;NT GT ./. 3 47777617 . C . . NT END=47779518;NT GT ./. 3 47779601 . C . . NT END=47787397;NT GT ./. 3 47787484 . C . . NT END=47814306;NT GT ./. 3 47814427 . C . . NT END=47823092;NT GT ./. 3 47822847 rs5016899 A C 25 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9818,C/0.01817;Gene=SMARCC1/NM_003074.3/1;CC=c.195+246T>G;VC=Intron;DM=SMARCC1/SWIRM-assoc_2;DM=SMARCC1/SWIRM-assoc_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:214:24.73:24.73:0.00:1.00:1.00:0.00:60:71.0:0:0:41:110:28:NM_003074.3(SMARCC1) c.195+246T>G,NM_003074.3(SMARCC1) c.195+246T>G:0.03,0.03:NOT_FOUND,NOT_FOUND 3 47822877 rs5016900 G C 36 nt VT=SNV;PN=G;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.8524,C/0.1476;Gene=SMARCC1/NM_003074.3/1;CC=c.195+216C>G;VC=Intron;DM=SMARCC1/SWIRM-assoc_2;DM=SMARCC1/SWIRM-assoc_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:313:35.59:33.55:2.04:1.00:1.00:1.00:60:63.4:0:0:43:108:28:NM_003074.3(SMARCC1) c.195+216C>G,NM_003074.3(SMARCC1) c.195+216C>G:0.14,0.14:NOT_FOUND,NOT_FOUND 3 47823288 . c . . NT END=47852173;NT GT ./. 3 47835029 rs373752057 CTG C 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTG/0.7218,C/0.2782;NP=73;PC=0.282;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CTG,C:3:3:0:3:1,2:32,98:0.00,6.85:0.00,3.07:0.00,3.78:0.00,0.51:0.00,0.89:0.00,0.89:60,60:56.0,0.0:0,1:0,0:0,96:140,55:0,5:-,chr3 g.47835030_47835031delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 47852202 . G . . NT END=47857452;NT GT ./. 3 47857429 rs200901757 CT C 21 idl,rn VT=DEL;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=9;PC=0.003;Gene=DHX30/NR_075079.1/0;VC=NonCoding;Gene=DHX30/NM_014966.3/1;CC=c.-118-2068delT;VC=Intron;Gene=DHX30/NM_138615.2/0;CC=c.29-2068delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:CT,T,I,C:65:47:2:12:53,1,2,9:1750,8,65,371:0.00,-0.26,3.71,21.13:0.00,-0.12,-0.41,3.93:0.00,-0.14,4.12,17.20:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.99:60,60,60,60:18.6,75.0,0.0,15.6:0,0,0,3:0,0,0,0:67,98,123,82:73,53,27,68:40,0,6,19:-,NM_138615.2(DHX30) c.29-2082delT:-,NOT_FOUND:-,NOT_FOUND 3 47857846 . CT C 65 idl,rn VT=DEL;SST=Single;DP=136;PC=0.025;Gene=DHX30/NR_075079.1/0;VC=NonCoding;Gene=DHX30/NM_014966.3/1;CC=c.-118-1646delT;VC=Intron;Gene=DHX30/NM_138615.2/0;CC=c.29-1646delT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:128:82:12:37:88,3,10,27:2620,71,382,990:0.00,2.92,22.24,65.41:0.00,0.96,9.52,23.13:0.00,1.97,12.72,42.28:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:17.0,84.0,38.0,35.9:0,1,2,6:0,0,0,0:119,126,81,60:21,7,69,82:20,8,27,17:-,NM_138615.2(DHX30) c.29-1665delT:-,NOT_FOUND:-,NOT_FOUND 3 47857864 . t . . NT END=47858124;NT GT ./. 3 47858407 . T TA 16 idl,rn VT=INS;SST=Single;DP=94;PC=0.001;Gene=DHX30/NR_075079.1/0;VC=NonCoding;Gene=DHX30/NM_014966.3/1;CC=c.-118-1094_-118-1093insA;VC=Intron;Gene=DHX30/NM_138615.2/0;CC=c.29-1094_29-1093insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,T,TA,D:92:34:9:7:1,77,8,6:8,2420,272,212:-0.30,0.00,16.20,11.42:-0.10,0.00,1.64,0.67:-0.21,0.00,14.56,10.75:0.00,0.00,0.92,0.00:0.00,0.00,0.87,0.00:0.00,0.00,0.99,0.00:60,60,60,60:100.0,9.9,29.9,17.2:0,0,1,1:0,0,0,0:105,86,75,105:42,62,71,45:0,29,26,3:-,NM_138615.2(DHX30) c.29-1105_29-1104insA:-,NOT_FOUND:-,NOT_FOUND 3 47858463 . C . . NT END=47860725;NT GT ./. 3 47860685 . C CT 11 rn VT=INS;SST=Single;DP=60;NP=5;PC=0.985;Gene=DHX30/NM_014966.3/1;CC=c.-22-31dupT;VC=Intron;Gene=DHX30/NM_138615.2/0;CC=c.124+1088dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,C,CT,D:60:51:5:2:1,52,5,2:11,1619,162,65:-0.19,0.00,11.23,3.74:-0.05,0.00,10.63,2.81:-0.14,0.00,0.60,0.93:0.00,0.00,0.69,0.00:0.00,0.00,0.95,0.00:0.00,0.00,0.82,0.00:60,60,60,60:112.0,13.7,2.6,0.0:0,0,0,0:0,0,0,0:56,41,13,73:95,104,137,49:0,28,9,43:-,NM_138615.2(DHX30) c.124+1078_124+1079insT:-,NOT_FOUND:-,NOT_FOUND 3 47860755 . G . . NT END=47868836;NT GT ./. 3 47868968 . G . . NT END=47870513;NT GT ./. 3 47870625 . G . . NT END=47882366;NT GT ./. 3 47882669 . G . . NT END=47883106;NT GT ./. 3 47883228 . G . . NT END=47884595;NT GT ./. 3 47884746 . G . . NT END=47887189;NT GT ./. 3 47887343 . G . . NT END=47887654;NT GT ./. 3 47888492 . G . . NT END=47888762;NT GT ./. 3 47888839 . G . . NT END=47888921;NT GT ./. 3 47889027 . G . . NT END=47889270;NT GT ./. 3 47889447 . G . . NT END=47889669;NT GT ./. 3 47889877 . G . . NT END=47889958;NT GT ./. 3 47890041 . G . . NT END=47890113;NT GT ./. 3 47890308 . G . . NT END=47890409;NT GT ./. 3 47890570 . G . . NT END=47890681;NT GT ./. 3 47890840 . G . . NT END=47890940;NT GT ./. 3 47891045 . G . . NT END=47891119;NT GT ./. 3 47891260 . G . . NT END=47891356;NT GT ./. 3 47891611 . G . . NT END=47894281;NT GT ./. 3 47891744 rs397780895 CAA C 144 sb;idl,nt VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=CAA/0.634,C/0.366;DB;DBA=NA;PAF=CAA/0.634,C/0.366;NP=135;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:CAA,C:44:1:0:43:3,41:78,1308:0.00,143.74:0.00,1.77:0.00,141.97:0.00,1.00:0.00,0.94:0.00,1.00:60,60:0.0,13.5:0,2:0,0:149,100:2,50:1,25:chr3 g.47891745_47891746delAA (intergenic),chr3 g.47891745_47891746delAA (intergenic):0.33,0.33:NOT_FOUND,NOT_FOUND 3 47894530 . C . . NT END=47894651;NT GT ./. 3 47894843 . C . . NT END=47896736;NT GT ./. 3 47894881 rs67063081 CGAG C 125 nt VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=CGAG/0.8528,C/0.1472;DB;DBA=NA;PAF=CGAG/0.8528,C/0.1472;NP=146;PC=1.000;Gene=MAP4/NM_001134364.1/0;CC=c.3262-456_3262-454delCTC;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.3262-42_3262-40delCTC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGAG,C:52:27:0:40:13,39:399,1210:0.00,124.78:0.00,39.83:0.00,84.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.2,12.3:0,1:0,0:144,100:6,48:2,27:-,NM_002375.4(MAP4) c.3262-42_3262-40delCTC:-,0.15:-,0.172274 3 47894883 rs562931714 A G 26 idl;end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.9842,G/0.01577;NP=8;PC=0.999;Gene=MAP4/NM_001134364.1/0;CC=c.3262-455T>C;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.3262-41T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:4:0:45:8:224:26.19:8.60:17.58:1.00:1.00:1.00:60:28.0:0:0:146:3:2:NM_002375.4(MAP4) c.3262-41T>C,NM_002375.4(MAP4) c.3262-41T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47896851 . C . . NT END=47898919;NT GT ./. 3 47899003 . C . . NT END=47908734;NT GT ./. 3 47900076 rs143478649 G GGTGT 15 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.852,GGT/.,GGTGT/0.148;NP=11;NP=12;PC=0.001;Gene=MAP4/NM_001134364.1/0;CC=c.3067-1075_3067-1074insACAC;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.3067-1075_3067-1074insACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GGTGT:5:5:6:0:5:166:15.37:6.78:8.59:0.99:1.00:1.00:60:34.6:1:0:51:81:23:NM_002375.4(MAP4) c.3067-1075_3067-1074insACAC,NM_002375.4(MAP4) c.3067-1075_3067-1074insACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47908829 . C . . NT END=47910702;NT GT ./. 3 47910818 . C . . NT END=47912301;NT GT ./. 3 47912596 . C . . NT END=47912715;NT GT ./. 3 47912777 . C . . NT END=47913405;NT GT ./. 3 47913591 . C . . NT END=47917173;NT GT ./. 3 47917391 . C . . NT END=47918905;NT GT ./. 3 47917622 rs541938118 CTTTCTT C 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CTTTCTT/0.3448,C/0.6552;DB;DBA=NA;PAF=CTTTCTT/0.3448,C/0.6552;NP=2;PC=0.009;Gene=MAP4/NM_001134364.1/0;CC=c.2107-238_2107-233delAAGAAA;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.2107-238_2107-233delAAGAAA;VC=Intron;DM=MAP4/Tubulin-binding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:4:4:130:14.91:0.00:14.91:1.00:0.00:1.00:70:0.0:0:0:89:62:53:NM_002375.4(MAP4) c.2107-238_2107-233delAAGAAA,NM_002375.4(MAP4) c.2107-238_2107-233delAAGAAA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 47919014 . C . . NT END=47932513;NT GT ./. 3 47932274 rs319684 C T 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5933,A/.,T/0.4067;Gene=MAP4/NM_001134364.1/0;CC=c.2000-13261G>A;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.2000-13261G>A;VC=Intron;DM=MAP4/Tubulin-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:217:25.04:25.04:0.00:1.00:1.00:0.00:60:45.9:0:0:25:126:20:NM_002375.4(MAP4) c.2000-13261G>A,NM_002375.4(MAP4) c.2000-13261G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 3 47934332 . A . . NT END=47944439;NT GT ./. 3 47934516 rs60864831 T GA 23 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=9;Gene=MAP4/NM_001134364.1/0;CC=c.2000-15504dupT;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.2000-15504dupT;VC=Intron;DM=MAP4/Tubulin-binding;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:T,GA:15:0:10:0:6,9:171,255:0.00,22.68:0.00,0.00:0.00,22.68:0.00,1.00:0.00,0.00:0.00,1.00:60,70:34.8,91.9:1,1:0,0:138,79:12,66:6,31:-,NM_002375.4(MAP4) c.2000-15503delAinsTC:-,NOT_FOUND:-,NOT_FOUND 3 47944491 . C . . NT END=47950527;NT GT ./. 3 47944636 rs397729333 AG A 48 sb,nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=AG/0.607,A/0.393;DB;DBA=NA;PAF=AG/0.607,A/0.393;NP=3;Gene=MAP4/NM_001134364.1/0;CC=c.1999+11670delC;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.1999+11670delC;VC=Intron;DM=MAP4/Tubulin-binding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:1:0:14:14:414:48.06:1.94:46.13:1.00:1.00:1.00:60:14.6:0:0:111:40:22:NM_002375.4(MAP4) c.1999+11670delC,NM_002375.4(MAP4) c.1999+11670delC:0.34,0.34:NOT_FOUND,NOT_FOUND 3 47953405 rs4858871 A C 353 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.5925,C/0.4075;Gene=MAP4/NM_001134364.1/0;CC=c.1999+2902T>G;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.1999+2902T>G;VC=Intron;DM=MAP4/Tubulin-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:94:70:0:0:94:3084:353.12:237.27:115.85:1.00:1.00:1.00:60:39.0:0:0:64:83:36:NM_002375.4(MAP4) c.1999+2902T>G,NM_002375.4(MAP4) c.1999+2902T>G:0.35,0.35:NOT_FOUND,NOT_FOUND 3 47953733 rs34025851 C A 534 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=146;DB;DBA=NA;PAF=C/0.7187,A/0.2813;PC=1.000;Gene=MAP4/NM_001134364.1/0;CC=c.1999+2574G>T;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.1999+2574G>T;VC=Intron;DM=MAP4/Tubulin-binding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:146:100:0:0:145,1:4669,11:534.03,0.00:290.25,0.00:243.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,40.0:0,0:0,0:81,73:69,78:38,0:NM_002375.4(MAP4) c.1999+2574G>T,NM_002375.4(MAP4) c.1999+2574G>T:0.25,0.25:NOT_FOUND,NOT_FOUND 3 47953912 . C . . NT END=47956305;NT GT ./. 3 47956424 rs1137524 C T 349 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=C/0.6112,G/.,T/0.3888;PC=0.019;Gene=MAP4/NM_001134364.1/0;CC=c.1882G>A;ProtCh=p.V628I;VC=Missense;Gene=MAP4/NM_002375.4/1;CC=c.1882G>A;ProtCh=p.V628I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:99:57:0:0:1,98:12,3029:0.16,348.85:0.16,150.84:0.00,198.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,54.9:0,0:0,0:119,72:31,73:0,35:NM_002375.4(MAP4) c.1882G>A (p.Val628Ile),NM_002375.4(MAP4) c.1882G>A (p.Val628Ile):0.34,0.34:0.388205,0.388205 3 47956430 . C . . NT END=47957439;NT GT ./. 3 47956506 rs11707679 T C 238 nt VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.7482,C/0.2518;Gene=MAP4/NM_001134364.1/0;CC=c.1877-77A>G;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.1877-77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:168:C,G:64:24:0:0:63,1:2087,13:238.23,0.28:53.91,0.00:184.31,0.28:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.3,92.0:0,0:0,0:92,34:58,100:28,0:NM_002375.4(MAP4) c.1877-77A>G,NM_002375.4(MAP4) c.1877-77A>G:0.23,0.23:NOT_FOUND,NOT_FOUND 3 47958037 rs1060407 G T 585 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=167;DB;DBA=NA;PAF=G/0.7482,T/0.2518;PC=0.201;Gene=MAP4/NM_001134364.1/0;CC=c.1280C>A;ProtCh=p.S427Y;VC=Missense;Gene=MAP4/NM_002375.4/1;CC=c.1280C>A;ProtCh=p.S427Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:167:101:0:0:1,166:36,5085:0.00,584.72:0.00,306.48:0.00,278.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,41.3:0,0:0,0:74,70:77,77:0,44:NM_002375.4(MAP4) c.1280C>A (p.Ser427Tyr),NM_002375.4(MAP4) c.1280C>A (p.Ser427Tyr):0.23,0.23:0.249962,0.249962 3 47958665 . C . . NT END=47960207;NT GT ./. 3 47960332 . C . . NT END=47963253;NT GT ./. 3 47960511 rs13093830 T A 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7482,A/0.2518;PC=0.158;Gene=MAP4/NM_001134364.1/0;CC=c.530-180A>T;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.530-180A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:A,T:13:0:0:0:12,1:346,13:38.85,0.00:0.00,0.00:38.85,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:43.2,13.0:0,0:0,0:98,67:52,84:16,0:NM_002375.4(MAP4) c.530-180A>T,NM_002375.4(MAP4) c.530-180A>T:0.23,0.23:NOT_FOUND,NOT_FOUND 3 47963369 . C . . NT END=47969716;NT GT ./. 3 47963443 . CT C 7 rn VT=DEL;SST=Single;DP=26;NP=14;PC=0.003;Gene=MAP4/NM_001134364.1/0;CC=c.416-76delA;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.416-76delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:CT,T,I,C:26:4:2:3:20,1,2,3:649,12,61,94:0.00,0.09,4.14,6.96:0.00,-0.06,-0.12,-0.19:0.00,0.15,4.26,7.14:0.00,0.00,0.00,0.45:0.00,0.00,0.00,0.40:0.00,0.00,0.00,0.87:60,60,60,60:7.2,51.0,31.5,16.7:0,0,0,0:0,0,0,0:127,28,66,104:23,123,85,47:12,0,32,4:-,NM_002375.4(MAP4) c.416-76delA:-,NOT_FOUND:-,NOT_FOUND 3 47969841 . C . . NT END=48014568;NT GT ./. 3 47970109 rs3732529 C T 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.61,T/0.39;PC=0.009;Gene=MAP4/NM_001134364.1/0;CC=c.293-269G>A;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.293-269G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:146:16.98:0.00:16.98:1.00:0.00:1.00:60:60.4:0:0:68:83:63:NM_002375.4(MAP4) c.293-269G>A,NM_002375.4(MAP4) c.293-269G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 3 48015655 . c . . NT END=48015903;NT GT ./. 3 48016172 rs9862913 T C 237 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.6122,C/0.3878;PC=0.050;Gene=MAP4/NM_001134364.1/0;CC=c.292+3183A>G;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.292+3183A>G;VC=Intron;Gene=MAP4/NM_030885.3/0;CC=c.*776A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:153:C,T:66:46:0:0:65,1:2088,34:237.37,0.00:148.24,0.00:89.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.6,0.0:0,0:0,0:64,99:86,51:37,0:NM_002375.4(MAP4) c.292+3183A>G,NM_002375.4(MAP4) c.292+3183A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 3 48016254 . CA C 33 idl,rn VT=DEL;SST=Single;DP=72;NP=2;Gene=MAP4/NM_001134364.1/0;CC=c.292+3100delT;VC=Intron;Gene=MAP4/NM_002375.4/1;CC=c.292+3100delT;VC=Intron;Gene=MAP4/NM_030885.3/0;CC=c.*693delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,I,C:71:54:4:15:1,52,4,14:31,1577,114,442:1.41,0.00,7.03,32.66:-0.20,0.00,4.65,19.29:1.62,0.00,2.38,13.37:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:31.0,29.2,22.5,36.6:0,0,0,1:0,0,0,0:0,84,69,95:151,57,82,55:0,45,24,23:-,NM_002375.4(MAP4) c.292+3100delT:-,NOT_FOUND:-,NOT_FOUND 3 48016956 . C . . NT END=48019354;NT GT ./. 3 48019424 . C . . NT END=48028872;NT GT ./. 3 48028924 . C . . NT END=48040126;NT GT ./. 3 48040351 . T . . NT END=48200434;NT GT ./. 3 48200576 . C . . NT END=48200833;NT GT ./. 3 48200946 . C . . NT END=48205796;NT GT ./. 3 48205928 . C . . NT END=48207125;NT GT ./. 3 48206102 rs3731555 G A 47 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8231,A/0.1769;Gene=CDC25A/NM_001789.2/1;CC=c.1192-175C>T;VC=Intron;Gene=CDC25A/NM_201567.1/0;CC=c.1072-175C>T;VC=Intron;DM=CDC25A/Rhodanese GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:0:0:0:13:410:47.20:0.00:47.20:1.00:0.00:1.00:60:35.1:0:0:95:56:32:NM_001789.2(CDC25A) c.1192-175C>T,NM_001789.2(CDC25A) c.1192-175C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48206922 rs3731546 T TA 20 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.02556,TA/0.9744;NP=1087;Gene=CDC25A/NM_001789.2/1;CC=c.1191+203_1191+204insT;VC=Intron;Gene=CDC25A/NM_201567.1/0;CC=c.1071+203_1071+204insT;VC=Intron;DM=CDC25A/Rhodanese;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:TA:6:6:6:0:6:175:20.35:20.35:0.00:1.00:1.00:0.00:60:34.8:0:0:45:104:25:NM_001789.2(CDC25A) c.1191+203_1191+204insT,NM_001789.2(CDC25A) c.1191+203_1191+204insT:0.98,0.98:NOT_FOUND,NOT_FOUND 3 48207225 . C . . NT END=48207320;NT GT ./. 3 48207384 . C . . NT END=48209335;NT GT ./. 3 48209435 . C . . NT END=48215773;NT GT ./. 3 48209486 rs3731539 C T 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.02556,T/0.9744;Gene=CDC25A/NM_001789.2/1;CC=c.931-52G>A;VC=Intron;Gene=CDC25A/NM_201567.1/0;CC=c.811-52G>A;VC=Intron;DM=CDC25A/M-inducer_phosp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:7:0:0:28:924:105.75:15.56:90.19:1.00:1.00:1.00:60:38.0:0:0:116:29:22:NM_001789.2(CDC25A) c.931-52G>A,NM_001789.2(CDC25A) c.931-52G>A:0.98,0.98:0.978823,0.978823 3 48209850 rs58104019 C CCA 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=2;NP=4;PC=0.032;Gene=CDC25A/NM_001789.2/1;CC=c.931-417_931-416insTG;VC=Intron;Gene=CDC25A/NM_201567.1/0;CC=c.811-417_811-416insTG;VC=Intron;DM=CDC25A/M-inducer_phosp;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CCA:4:5:3:0:2,2:70,99:0.00,6.31:0.00,6.31:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,70:0.0,21.5:0,1:0,0:91,30:39,121:24,3:-,NM_001789.2(CDC25A) c.931-417_931-416insTG:-,NOT_FOUND:-,NOT_FOUND 3 48215948 . C . . NT END=48218860;NT GT ./. 3 48218933 . C . . NT END=48219343;NT GT ./. 3 48219320 rs534972297 AAC A 116 rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=681;Gene=CDC25A/NM_001789.2/1;CC=c.684+22_684+23delGT;VC=Intron;Gene=CDC25A/NM_201567.1/0;CC=c.564+22_564+23delGT;VC=Intron;DM=CDC25A/M-inducer_phosp;DM=CDC25A/M-inducer_phosp;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:AAC,A:38:34:0:34:5,33:154,1097:0.00,115.58:0.00,86.31:0.00,29.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.8,4.8:0,1:0,0:131,57:17,90:15,25:-,NM_001789.2(CDC25A) c.684+22_684+23delGT:-,NOT_FOUND:-,NOT_FOUND 3 48219479 . C . . NT END=48222210;NT GT ./. 3 48219537 rs3731513 A G 168 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.8313,G/0.1687;Gene=CDC25A/NM_001789.2/1;CC=c.550-59T>C;VC=Intron;Gene=CDC25A/NM_201567.1/0;CC=c.430-59T>C;VC=Intron;DM=CDC25A/M-inducer_phosp;DM=CDC25A/M-inducer_phosp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:G:45:17:0:0:45:1464:167.82:42.58:125.24:1.00:1.00:1.00:60:36.6:0:0:108:41:21:NM_001789.2(CDC25A) c.550-59T>C,NM_001789.2(CDC25A) c.550-59T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48222331 . C . . NT END=48224418;NT GT ./. 3 48224521 . C . . NT END=48225289;NT GT ./. 3 48225327 . C . . NT END=48226142;NT GT ./. 3 48226186 . C . . NT END=48228192;NT GT ./. 3 48228270 . C . . NT END=48229267;NT GT ./. 3 48228994 rs3729577 A C 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8313,C/0.1687;Gene=CDC25A/NM_001789.2/1;CC=c.170+274T>G;VC=Intron;Gene=CDC25A/NM_201567.1/0;CC=c.170+274T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:C:5:5:0:0:5:125:14.82:14.82:0.00:1.00:1.00:0.00:60:50.6:0:0:70:81:33:NM_001789.2(CDC25A) c.170+274T>G,NM_001789.2(CDC25A) c.170+274T>G:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48229438 . G . . NT END=48264992;NT GT ./. 3 48229624 rs3731487 C T 74 nt VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8233,T/0.1767;Gene=CDC25A/NM_001789.2/1;CC=c.-187G>A;VC=5UTR;Gene=CDC25A/NM_201567.1/0;CC=c.-187G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:0:0:0:21:645:74.47:0.00:74.47:1.00:0.00:1.00:60:44.0:0:0:123:28:21:NM_001789.2(CDC25A) c.-187G>A,NM_001789.2(CDC25A) c.-187G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48252173 . G C 9 end,nt VT=SNV;PN=C;NN=G;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:C,G:6:6:0:0:3,3:93,80:8.93,0.00:8.93,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:40,30:31.0,20.3:0,0:0,0:0,143:151,8:0,5:chr3 g.48252172G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 48252369 . C G 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=54;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:54:26:0:0:36,18:1058,566:0.00,50.30:0.00,21.94:0.00,28.36:0.00,1.00:0.00,1.00:0.00,1.00:40,40:5.8,37.9:0,0:0,0:112,100:36,51:24,36:-,chr3 g.48252368C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 48265203 . G . . NT END=48265843;NT GT ./. 3 48265952 . G . . NT END=48266092;NT GT ./. 3 48266165 . G . . NT END=48266782;NT GT ./. 3 48266915 . T . . NT END=48282661;NT GT ./. 3 48282494 rs9830016 T C 92 nt VT=SNV;PN=T;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.764,C/0.236 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:23:0:0:24:810:92.44:88.56:3.88:1.00:1.00:1.00:60:45.5:0:0:49:101:23:NM_016089.2(ZNF589) c.-66-u102T>C,NM_016089.2(ZNF589) c.-66-u102T>C:0.22,0.22:NOT_FOUND,NOT_FOUND 3 48282651 rs35806621 TGCGC T 403 nt VT=DEL;SST=Single;DP=128;DB;DBA=NA;PAF=TGCGC/0.7646,T/0.2354;NP=1265;PC=0.005;Gene=ZNF589/NM_016089.2/1;CC=c.-6_-3delGCGC;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:TGCGC,T:128:106:0:116:12,116:345,3647:0.00,402.83:0.00,238.20:0.00,164.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.6,34.6:1,0:0,0:5,54:142,94:3,25:-,NM_016089.2(ZNF589) c.-10GC[2]:-,0.22:-,0.311026 3 48282655 rs201202785 C T 33 idl;end,nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ZNF589/NM_016089.2/1;CC=c.-7C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C,T:11:10:0:117:1,10:13,301:0.00,33.48:0.00,25.14:0.00,8.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,74.6:0,0:0,0:144,8:1,141:0,2:NM_016089.2(ZNF589) c.-7C>T,NM_016089.2(ZNF589) c.-7C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 48282695 rs9847953 A G 512 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=A/0.7646,G/0.2354;Gene=ZNF589/NM_016089.2/1;CC=c.34A>G;ProtCh=p.T12A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:135:100:0:0:135:4483:512.49:252.78:259.71:1.00:1.00:1.00:60:43.5:0:0:72:74:26:NM_016089.2(ZNF589) c.34A>G (p.Thr12Ala),NM_016089.2(ZNF589) c.34A>G (p.Thr12Ala):0.22,0.22:0.295613,0.295613 3 48282705 . G . . NT END=48289114;NT GT ./. 3 48289168 . G . . NT END=48302302;NT GT ./. 3 48297992 rs397804079 TG T 20 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=TG/0.8215,T/0.1785;DB;DBA=NA;PAF=TG/0.8215,T/0.1785;NP=1420;PC=0.993;Gene=ZNF589/NM_016089.2/1;CC=c.97-4307delG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:6:6:173:20.16:20.16:0.00:1.00:1.00:0.00:60:9.2:0:0:85:65:6:NM_016089.2(ZNF589) c.97-4310delG,NM_016089.2(ZNF589) c.97-4310delG:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48302430 . G . . NT END=48309404;NT GT ./. 3 48309828 rs11718329 C G 665 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=NA;Gene=ZNF589/NM_016089.2/1;CC=c.647C>G;ProtCh=p.T216R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:179:106:0:0:1,177,1:6,5827,10:0.00,665.18,0.06:0.00,333.97,0.00:0.00,331.21,0.06:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:0.0,41.2,188.0:0,0,0:0,0,0:25,79,60:126,70,83:0,37,0:NM_016089.2(ZNF589) c.647C>G (p.Thr216Arg),NM_016089.2(ZNF589) c.647C>G (p.Thr216Arg):0.23,0.23:0.312819,0.312819 3 48310277 . G . . NT END=48336126;NT GT ./. 3 48335857 rs3197223 C T 22 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8203,T/0.1797;Gene=NME6/NM_001308427.1/0;CC=c.*270G>A;VC=3UTR;Gene=NME6/NM_001308428.1/1;CC=c.*270G>A;VC=3UTR;Gene=NME6/NM_001308430.1/0;CC=c.*299G>A;VC=3UTR;Gene=NME6/NM_001308433.1/0;CC=c.*299G>A;VC=3UTR;Gene=NME6/NM_005793.4/0;CC=c.*270G>A;VC=3UTR;Gene=NME6/NM_001308426.1/0;CC=c.*270G>A;VC=3UTR;Gene=NME6/NM_001308431.1/0;CC=c.*299G>A;VC=3UTR;Gene=NME6/NM_001308434.1/0;CC=c.*270G>A;VC=3UTR;Gene=NME6/NM_001308435.1/0;CC=c.*270G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:189:21.74:21.74:0.00:1.00:1.00:0.00:60:47.7:0:0:56:94:35:NM_005793.3(NME6) c.*270G>A,NM_005793.3(NME6) c.*270G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48336294 . C . . NT END=48336564;NT GT ./. 3 48336726 . C . . NT END=48337608;NT GT ./. 3 48337727 . C . . NT END=48338216;NT GT ./. 3 48338173 rs4479622 C T 77 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8205,T/0.1795;PC=0.001;Gene=NME6/NM_001308427.1/0;CC=c.193+44G>A;VC=Intron;Gene=NME6/NM_001308428.1/1;CC=c.193+44G>A;VC=Intron;Gene=NME6/NM_001308430.1/0;CC=c.217+44G>A;VC=Intron;Gene=NME6/NM_001308433.1/0;CC=c.193+44G>A;VC=Intron;Gene=NME6/NM_005793.4/0;CC=c.217+44G>A;VC=Intron;Gene=NME6/NM_001308426.1/0;CC=c.193+44G>A;VC=Intron;Gene=NME6/NM_001308431.1/0;CC=c.193+44G>A;VC=Intron;Gene=NME6/NM_001308434.1/0;CC=c.58+44G>A;VC=Intron;Gene=NME6/NM_001308435.1/0;CC=c.193+44G>A;VC=Intron;DM=NME6/NDK;DM=NME6/NDK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:48:C,T:23:21:0:0:1,22:10,678:0.00,76.71:0.00,63.30:0.00,13.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.0,42.8:0,0:0,0:149,68:2,82:0,32:NM_005793.3(NME6) c.217+44G>A,NM_005793.3(NME6) c.217+44G>A:0.17,0.17:0.231355,0.231355 3 48338320 . C . . NT END=48339916;NT GT ./. 3 48338487 rs34946886 A G 35 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.8205,G/0.1795;Gene=NME6/NM_001308427.1/0;CC=c.91-168T>C;VC=Intron;Gene=NME6/NM_001308428.1/1;CC=c.91-168T>C;VC=Intron;Gene=NME6/NM_001308430.1/0;CC=c.115-168T>C;VC=Intron;Gene=NME6/NM_001308433.1/0;CC=c.91-168T>C;VC=Intron;Gene=NME6/NM_005793.4/0;CC=c.115-168T>C;VC=Intron;Gene=NME6/NM_001308426.1/0;CC=c.91-168T>C;VC=Intron;Gene=NME6/NM_001308431.1/0;CC=c.91-168T>C;VC=Intron;Gene=NME6/NM_001308434.1/0;CC=c.-45-168T>C;VC=Intron;Gene=NME6/NM_001308435.1/0;CC=c.91-168T>C;VC=Intron;DM=NME6/NDK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:312:35.49:0.00:35.49:1.00:0.00:1.00:60:36.6:0:0:116:35:17:NM_005793.3(NME6) c.115-168T>C,NM_005793.3(NME6) c.115-168T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48339699 rs13084616 C T 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.8205,T/0.1795;PC=0.001;Gene=NME6/NM_001308427.1/0;CC=c.90+218G>A;VC=Intron;Gene=NME6/NM_001308428.1/1;CC=c.90+218G>A;VC=Intron;Gene=NME6/NM_001308430.1/0;CC=c.114+218G>A;VC=Intron;Gene=NME6/NM_001308433.1/0;CC=c.90+218G>A;VC=Intron;Gene=NME6/NM_005793.4/0;CC=c.114+218G>A;VC=Intron;Gene=NME6/NM_001308426.1/0;CC=c.90+218G>A;VC=Intron;Gene=NME6/NM_001308431.1/0;CC=c.90+218G>A;VC=Intron;Gene=NME6/NM_001308434.1/0;CC=c.-45-1380G>A;VC=Intron;Gene=NME6/NM_001308435.1/0;CC=c.90+218G>A;VC=Intron;DM=NME6/NDK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:10:0:0:10:277:32.32:32.32:0.00:1.00:1.00:0.00:60:49.9:0:0:51:99:27:NM_005793.3(NME6) c.114+218G>A,NM_005793.3(NME6) c.114+218G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48340014 . C . . NT END=48342768;NT GT ./. 3 48340045 rs13085251 C T 162 nt VT=SNV;PN=T;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.8205,T/0.1795;Gene=NME6/NM_001308427.1/0;CC=c.-7-32G>A;VC=Intron;Gene=NME6/NM_001308428.1/1;CC=c.-7-32G>A;VC=Intron;Gene=NME6/NM_001308430.1/0;CC=c.18-32G>A;VC=Intron;Gene=NME6/NM_001308433.1/0;CC=c.-7-32G>A;VC=Intron;Gene=NME6/NM_005793.4/0;CC=c.18-32G>A;VC=Intron;Gene=NME6/NM_001308426.1/0;CC=c.-7-32G>A;VC=Intron;Gene=NME6/NM_001308431.1/0;CC=c.-7-32G>A;VC=Intron;Gene=NME6/NM_001308434.1/0;CC=c.-45-1726G>A;VC=Intron;Gene=NME6/NM_001308435.1/0;CC=c.-7-32G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:T:45:20:0:0:45:1402:161.63:40.92:120.71:1.00:1.00:1.00:60:34.6:0:0:105:43:28:NM_005793.3(NME6) c.18-32G>A,NM_005793.3(NME6) c.18-32G>A:0.17,0.17:0.231124,0.231124 3 48342669 rs34523942 C T 120 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.7712,T/0.2288;Gene=NME6/NM_001308427.1/0;CC=c.-8+91G>A;VC=Intron;Gene=NME6/NM_001308428.1/1;CC=c.-8+100G>A;VC=Intron;Gene=NME6/NM_001308430.1/0;CC=c.17+117G>A;VC=Intron;Gene=NME6/NM_001308433.1/0;CC=c.-8+100G>A;VC=Intron;Gene=NME6/NM_005793.4/0;CC=c.17+117G>A;VC=Intron;Gene=NME6/NM_001308426.1/0;CC=c.-8+174G>A;VC=Intron;Gene=NME6/NM_001308431.1/0;CC=c.-8+174G>A;VC=Intron;Gene=NME6/NM_001308434.1/0;CC=c.-46+174G>A;VC=Intron;Gene=NME6/NM_001308435.1/0;CC=c.-8+174G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:C,T:35:35:0:0:1,34:11,1054:0.00,119.84:0.00,117.86:0.00,1.98:0.00,1.00:0.00,1.00:0.00,0.98:60,60:37.0,46.3:0,0:0,0:106,46:31,96:0,37:NM_005793.3(NME6) c.17+117G>A,NM_005793.3(NME6) c.17+117G>A:0.22,0.22:NOT_FOUND,NOT_FOUND 3 48342882 rs35297395 C T 600 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=169;DB;DBA=NA;PAF=C/0.8205,T/0.1795;PC=0.001;Gene=NME6/NM_001308427.1/0;CC=c.-130G>A;VC=5UTR;Gene=NME6/NM_001308428.1/1;CC=c.-121G>A;VC=5UTR;Gene=NME6/NM_001308430.1/0;CC=c.-80G>A;VC=5UTR;Gene=NME6/NM_001308433.1/0;CC=c.-121G>A;VC=5UTR;Gene=NME6/NM_005793.4/0;CC=c.-80G>A;VC=5UTR;Gene=NME6/NM_001308426.1/0;CC=c.-47G>A;VC=5UTR;Gene=NME6/NM_001308431.1/0;CC=c.-47G>A;VC=5UTR;Gene=NME6/NM_001308434.1/0;CC=c.-85G>A;VC=5UTR;Gene=NME6/NM_001308435.1/0;CC=c.-47G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:169:122:0:0:169:5194:599.62:330.20:269.42:1.00:1.00:1.00:60:41.7:0:0:58:92:36:NM_005793.3(NME6) c.-46-u34G>A,NM_005793.3(NME6) c.-46-u34G>A:0.17,0.17:0.230162,0.230162 3 48343087 rs36075665 C T 602 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=166;DB;DBA=NA;PAF=C/0.8221,T/0.1779;Gene=NME6/NM_001308426.1/0;CC=c.-252G>A;VC=5UTR;Gene=NME6/NM_001308431.1/0;CC=c.-252G>A;VC=5UTR;Gene=NME6/NM_001308434.1/0;CC=c.-290G>A;VC=5UTR;Gene=NME6/NM_001308435.1/0;CC=c.-252G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:166:97:0:0:1,165:10,5260:0.00,602.49:0.00,270.51:0.00,331.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:79.0,42.7:0,0:0,0:81,87:69,61:0,29:NM_005793.3(NME6) c.-46-u239G>A,NM_005793.3(NME6) c.-46-u239G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48343261 rs34630841 G A 426 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.8249,A/0.1751 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:113:51:0:0:113:3722:425.91:123.33:302.59:1.00:1.00:1.00:60:66.1:0:0:82:68:32:NM_005793.3(NME6) c.-46-u413C>T,NM_005793.3(NME6) c.-46-u413C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48343290 rs35190747 C T 352 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.8205,T/0.1795 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:97:37:0:0:97:3058:351.88:84.95:266.93:1.00:1.00:1.00:60:69.2:0:0:95:51:28:NM_005793.3(NME6) c.-46-u442G>A,NM_005793.3(NME6) c.-46-u442G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48343310 . G . . NT END=48348481;NT GT ./. 3 48348494 . C . . NT END=48351393;NT GT ./. 3 48348564 rs79089926 A C 143 nt VT=SNV;PN=A;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.8205,C/0.1795;Gene=SPINK8/NM_001080525.1/1;CC=c.283-71T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:C:38:17:0:0:38:1252:143.30:41.42:101.88:1.00:1.00:1.00:60:38.5:0:0:112:35:14:NM_001080525.1(SPINK8) c.283-71T>G,NM_001080525.1(SPINK8) c.283-71T>G:0.17,0.17:0.21901,0.21901 3 48351437 . C . . NT END=48360986;NT GT ./. 3 48351560 rs6793150 G A 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8207,A/0.1793;PC=0.457;Gene=SPINK8/NM_001080525.1/1;CC=c.240-124C>T;VC=Intron;DM=SPINK8/Kazal_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:0:0:0:17:498:57.84:0.00:57.84:1.00:0.00:1.00:60:62.4:0:0:87:64:32:NM_001080525.1(SPINK8) c.240-124C>T,NM_001080525.1(SPINK8) c.240-124C>T:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48351618 rs6793239 G T 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.8207,T/0.1793;PC=0.002;Gene=SPINK8/NM_001080525.1/1;CC=c.240-182C>A;VC=Intron;DM=SPINK8/Kazal_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:385:44.22:0.00:44.22:1.00:0.00:1.00:60:79.8:0:0:102:47:30:NM_001080525.1(SPINK8) c.240-182C>A,NM_001080525.1(SPINK8) c.240-182C>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48351683 rs6782166 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8207,G/0.1793;PC=0.645;Gene=SPINK8/NM_001080525.1/1;CC=c.240-247T>C;VC=Intron;DM=SPINK8/Kazal_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:66.8:0:0:100:49:19:NM_001080525.1(SPINK8) c.240-247T>C,NM_001080525.1(SPINK8) c.240-247T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48360862 rs11714176 C T 75 nt VT=SNV;PN=A;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8207,T/0.1793;Gene=SPINK8/NM_001080525.1/1;CC=c.239+125G>A;VC=Intron;DM=SPINK8/Kazal_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:21:0:0:21:650:74.96:71.08:3.88:1.00:1.00:1.00:60:41.2:0:0:53:97:24:NM_001080525.1(SPINK8) c.239+125G>A,NM_001080525.1(SPINK8) c.239+125G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48360992 rs11718350 T G 311 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.8315,G/0.1685;PC=0.002;Gene=SPINK8/NM_001080525.1/1;CC=c.234A>C;ProtCh=p.K78N;VC=Missense;DM=SPINK8/Kazal_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:80:70:0:0:80:2727:310.79:226.19:84.60:1.00:1.00:1.00:60:40.8:0:0:60:86:30:NM_001080525.1(SPINK8) c.234A>C (p.Lys78Asn),NM_001080525.1(SPINK8) c.234A>C (p.Lys78Asn):0.17,0.17:0.225881,0.225881 3 48361109 . C . . NT END=48362514;NT GT ./. 3 48362369 rs7645425 A T 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8225,T/0.1775;Gene=SPINK8/NM_001080525.1/1;CC=c.117+146T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:T:15:15:0:0:15:499:57.03:57.03:0.00:1.00:1.00:0.00:60:40.7:0:0:36:115:22:NM_001080525.1(SPINK8) c.117+146T>A,NM_001080525.1(SPINK8) c.117+146T>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48362565 . C . . NT END=48369764;NT GT ./. 3 48362750 rs11716371 C T 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.8227,T/0.1773;PC=0.001;Gene=SPINK8/NM_001080525.1/1;CC=c.68-186G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:334:38.60:0.00:38.60:1.00:0.00:1.00:60:40.4:0:0:88:63:32:NM_001080525.1(SPINK8) c.68-186G>A,NM_001080525.1(SPINK8) c.68-186G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 48369832 . G . . NT END=48413777;NT GT ./. 3 48413811 . G . . NT END=48414146;NT GT ./. 3 48414197 rs9852211 A T 386 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.02676,T/0.9732;PC=1.000;Gene=FBXW12/NM_001159927.1/0;CC=c.-61A>T;VC=5UTR;Gene=FBXW12/NM_001159929.1/0;CC=c.33+387A>T;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.-61A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:105:81:0:0:1,104:29,3368:1.39,385.92:1.39,212.25:0.00,173.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:52.0,68.3:0,0:0,0:142,74:8,68:0,33:NM_207102.2(FBXW12) c.-61A>T,NM_207102.2(FBXW12) c.-61A>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 48414215 rs9815103 G A 379 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.6631,A/0.3369;Gene=FBXW12/NM_001159927.1/0;CC=c.-43G>A;VC=5UTR;Gene=FBXW12/NM_001159929.1/0;CC=c.33+405G>A;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.-43G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:99:78:0:0:98,1:3348,32:379.11,0.00:207.67,0.00:171.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:70.6,40.0:0,0:0,0:69,55:80,96:35,0:NM_207102.2(FBXW12) c.-43G>A,NM_207102.2(FBXW12) c.-43G>A:0.36,0.36:0.407658,0.407658 3 48414348 . G . . NT END=48414797;NT GT ./. 3 48415196 . G . . NT END=48416843;NT GT ./. 3 48416963 . G . . NT END=48419806;NT GT ./. 3 48419723 rs7630741 G T 94 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.6633,T/0.3367;Gene=FBXW12/NM_001159927.1/0;CC=c.406-1167G>T;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.349-84G>T;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.406-84G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:T:31:30:0:0:31:794:93.86:84.32:9.54:1.00:1.00:1.00:60:43.4:0:0:37:112:25:NM_207102.2(FBXW12) c.406-84G>T,NM_207102.2(FBXW12) c.406-84G>T:0.36,0.36:NOT_FOUND,NOT_FOUND 3 48419898 rs79525977 G A 308 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.9812,A/0.01877;Gene=FBXW12/NM_001159927.1/0;CC=c.406-992G>A;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.440G>A;ProtCh=p.R147Q;VC=Missense;Gene=FBXW12/NM_207102.2/1;CC=c.497G>A;ProtCh=p.R166Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:82:50:0:0:81,1:2702,9:308.32,0.09:158.30,0.00:150.02,0.09:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,71.0:0,0:0,0:60,0:82,151:40,0:NM_207102.2(FBXW12) c.497G>A (p.Arg166Gln),NM_207102.2(FBXW12) c.497G>A (p.Arg166Gln):0.03,0.03:0.034523,0.034523 3 48420017 . G . . NT END=48420889;NT GT ./. 3 48420121 rs371037494 TG T 11 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=TG/0.646,T/0.354;NP=4;PC=0.023;Gene=FBXW12/NM_001159927.1/0;CC=c.406-767delG;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.558+107delG;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.615+107delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:TG,T:15:1:0:4:11,4:351,126:0.00,10.73:0.00,-0.07:0.00,10.80:0.00,0.76:0.00,0.51:0.00,0.76:60,60:45.2,42.2:0,0:0,0:128,122:23,29:18,19:-,NM_207102.2(FBXW12) c.615+106delG:-,NOT_FOUND:-,NOT_FOUND 3 48420122 rs9311422 G T 35 idl,nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=20;PC=0.023;Gene=FBXW12/NM_001159927.1/0;CC=c.406-768G>T;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.558+106G>T;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.615+106G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:G,T:12:0:0:4:2,10:63,325:0.00,34.92:0.00,0.00:0.00,34.92:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,52.5:0,0:0,0:147,103:1,47:0,32:-,NM_207102.2(FBXW12) c.615+106G>T:-,NOT_FOUND:-,NOT_FOUND 3 48421049 . G . . NT END=48422191;NT GT ./. 3 48421258 rs7634377 G A 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6462,A/0.3538;Gene=FBXW12/NM_001159927.1/0;CC=c.564+210G>A;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.717+210G>A;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.774+210G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:200:22.86:0.00:22.86:1.00:0.00:1.00:60:40.7:0:0:115:35:18:NM_207102.2(FBXW12) c.774+210G>A,NM_207102.2(FBXW12) c.774+210G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 3 48422235 rs6784322 T A 250 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.6462,A/0.3538;Gene=FBXW12/NM_001159927.1/0;CC=c.608T>A;ProtCh=p.V203D;VC=Missense;Gene=FBXW12/NM_001159929.1/0;CC=c.761T>A;ProtCh=p.V254D;VC=Missense;Gene=FBXW12/NM_207102.2/1;CC=c.818T>A;ProtCh=p.V273D;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:68:46:0:0:68:2172:249.56:136.32:113.25:1.00:1.00:1.00:60:38.2:0:0:65:83:37:NM_207102.2(FBXW12) c.818T>A (p.Val273Asp),NM_207102.2(FBXW12) c.818T>A (p.Val273Asp):0.37,0.37:0.425265,0.425265 3 48422403 . G . . NT END=48423189;NT GT ./. 3 48422512 rs11378351 GTT G 24 idl,rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=GTT/0.6384,G/0.3616;NP=6;PC=0.144;Gene=FBXW12/NM_001159927.1/0;CC=c.775+127_775+128delTT;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.928+127_928+128delTT;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.985+127_985+128delTT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:GTT,G:13:0:0:11:5,8:118,326:0.00,23.62:0.00,0.00:0.00,23.62:0.00,1.00:0.00,0.00:0.00,1.00:60,70:32.0,38.2:0,3:0,0:144,102:7,49:3,20:-,NM_207102.2(FBXW12) c.985+111_985+112delTT:-,NOT_FOUND:-,NOT_FOUND 3 48422574 rs6784541 A G 32 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6456,G/0.3544;Gene=FBXW12/NM_001159927.1/0;CC=c.775+172A>G;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.928+172A>G;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.985+172A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:G:9:0:0:0:9:275:31.75:0.00:31.75:1.00:0.00:1.00:70:34.0:0:0:65:85:48:NM_207102.2(FBXW12) c.985+172A>G,NM_207102.2(FBXW12) c.985+172A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 3 48423576 . G . . NT END=48436024;NT GT ./. 3 48423614 . C CT 10 rn VT=INS;SST=Single;DP=63;NP=4;Gene=FBXW12/NM_001159927.1/0;CC=c.1085+50_1085+51insT;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.1238+50_1238+51insT;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.1295+50_1295+51insT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,C,CT,D:62:31:6:1:1,55,5,1:10,1801,188,34:-0.23,0.00,10.42,1.70:0.03,0.00,4.69,-0.12:-0.27,0.00,5.72,1.82:0.00,0.00,0.68,0.00:0.00,0.00,0.82,0.00:0.00,0.00,0.95,0.00:60,60,60,60:101.0,24.9,34.2,35.0:0,0,1,0:0,0,0,0:89,101,74,70:42,46,75,81:0,31,30,0:-,NM_207102.2(FBXW12) c.1295+39_1295+40insT:-,NOT_FOUND:-,NOT_FOUND 3 48423656 rs7635522 T G 164 nt VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.5435,G/0.4565;PC=0.014;Gene=FBXW12/NM_001159927.1/0;CC=c.1085+81T>G;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.1238+81T>G;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.1295+81T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:12:0:0:45:1429:164.26:26.33:137.93:1.00:1.00:1.00:60:41.5:0:0:88:62:33:NM_207102.2(FBXW12) c.1295+81T>G,NM_207102.2(FBXW12) c.1295+81T>G:0.45,0.45:NOT_FOUND,NOT_FOUND 3 48432828 rs140067012 CACAT C 19 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=221;PC=0.002;Gene=FBXW12/NM_001159927.1/0;CC=c.1086-3195_1086-3192delCATA;VC=Intron;Gene=FBXW12/NM_001159929.1/0;CC=c.1239-3195_1239-3192delCATA;VC=Intron;Gene=FBXW12/NM_207102.2/1;CC=c.1296-3195_1296-3192delCATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:1:0:6:5:162:18.58:3.78:14.81:1.00:1.00:1.00:70:10.6:0:0:67:84:56:NM_207102.2(FBXW12) c.1296-3196_1296-3193delACAT,NM_207102.2(FBXW12) c.1296-3196_1296-3193delACAT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 48436125 . T . . NT END=48445892;NT GT ./. 3 48445998 . C . . NT END=48447130;NT GT ./. 3 48447206 . C . . NT END=48447974;NT GT ./. 3 48448148 . C . . NT END=48448229;NT GT ./. 3 48448306 . C . . NT END=48448433;NT GT ./. 3 48448499 . C . . NT END=48450736;NT GT ./. 3 48450706 rs398091450 TC T 273 rn VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2207;Gene=PLXNB1/NM_002673.5/1;CC=c.6087+30delG;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.6087+30delG;VC=Intron;DM=PLXNB1/Plexin_cytopl;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:TC,T:79:65:0:78:3,76:70,2427:0.00,273.46:0.00,169.55:0.00,103.91:0.00,1.00:0.00,1.00:0.00,1.00:60,70:9.7,5.6:0,0:0,0:145,48:6,87:2,29:NM_002673.4(PLXNB1) c.6087+30delG,NM_002673.4(PLXNB1) c.6087+30delG:0.37,0.37:0.422604,0.422604 3 48450885 . C . . NT END=48450978;NT GT ./. 3 48451140 . C . . NT END=48451313;NT GT ./. 3 48451300 rs398051914 AG A 408 nt VT=DEL;SST=Single;DP=115;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1949;Gene=PLXNB1/NM_002673.5/1;CC=c.5778+13delC;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.5778+13delC;VC=Intron;DM=PLXNB1/Plexin_cytopl;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:AG,A:115:84:0:116:1,114:32,3564:0.00,408.24:0.00,247.14:0.00,161.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,12.2:0,0:0,0:150,52:1,97:0,27:NM_002673.4(PLXNB1) c.5778+13delC,NM_002673.4(PLXNB1) c.5778+13delC:0.36,0.36:0.422591,0.422591 3 48451301 . G A,C 10 idl;end,nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DM=PLXNB1/Plexin_cytopl GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,C,G:5:5:0:115:3,1,1:95,10,5:9.96,0.71,0.00:9.96,0.71,0.00:0.00,0.00,0.00:0.78,0.00,0.00:0.78,0.00,0.00:0.00,0.00,0.00:60,60,60:45.3,69.0,100.0:0,0,0:0,0,0:0,57,23:151,94,128:0,0,0:NM_002673.4(PLXNB1) c.5778+13C>T,NM_002673.4(PLXNB1) c.5778+13C>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 48451487 . C . . NT END=48451704;NT GT ./. 3 48451790 . C . . NT END=48451863;NT GT ./. 3 48451968 . C . . NT END=48452276;NT GT ./. 3 48452446 . C . . NT END=48453271;NT GT ./. 3 48453419 . C . . NT END=48453646;NT GT ./. 3 48453714 . C . . NT END=48453850;NT GT ./. 3 48454030 . C . . NT END=48454150;NT GT ./. 3 48454369 . C . . NT END=48454477;NT GT ./. 3 48454468 rs3214041 C T 246 nt VT=SNV;PN=C;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.6454,C/0.3546;Gene=PLXNB1/NM_002673.5/1;CC=c.4636+10G>A;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.4636+10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:182:T:64:31:0:0:64:2155:246.00:95.88:150.12:1.00:1.00:1.00:60:38.3:0:0:76:75:34:NM_002673.4(PLXNB1) c.4636+10G>A,NM_002673.4(PLXNB1) c.4636+10G>A:0.37,0.37:0.423266,0.423266 3 48454579 . C . . NT END=48455078;NT GT ./. 3 48455228 . C . . NT END=48455303;NT GT ./. 3 48455481 . C . . NT END=48456207;NT GT ./. 3 48455626 rs6794875 A G 68 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6036,A/0.3964;Gene=PLXNB1/NM_002673.5/1;CC=c.4210-146T>C;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.4210-146T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:0:0:0:19:594:68.46:0.00:68.46:1.00:0.00:1.00:60:38.4:0:0:128:23:14:NM_002673.4(PLXNB1) c.4210-146T>C,NM_002673.4(PLXNB1) c.4210-146T>C:0.39,0.39:NOT_FOUND,NOT_FOUND 3 48456451 . C . . NT END=48456584;NT GT ./. 3 48456757 . C . . NT END=48456991;NT GT ./. 3 48457169 . C . . NT END=48457439;NT GT ./. 3 48457577 . C . . NT END=48457754;NT GT ./. 3 48457861 . C . . NT END=48459319;NT GT ./. 3 48459472 . C . . NT END=48459599;NT GT ./. 3 48459773 . C . . NT END=48459857;NT GT ./. 3 48459952 . C . . NT END=48460325;NT GT ./. 3 48460449 . C . . NT END=48460652;NT GT ./. 3 48460776 . C . . NT END=48460985;NT GT ./. 3 48461313 rs2362450 C G 396 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=G/0.5677,C/0.4323,T/.;PC=0.972;Gene=PLXNB1/NM_002673.5/1;CC=c.2382G>C;ProtCh=p.P794=;VC=Silent;Gene=PLXNB1/NM_001130082.2/0;CC=c.2382G>C;ProtCh=p.P794=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:107:59:0:0:106,1:3464,14:396.45,0.22:169.71,0.00:226.74,0.22:1.00,0.00:1.00,0.00:1.00,0.00:60,60:45.6,34.0:0,0:0,0:85,98:63,53:35,0:NM_002673.4(PLXNB1) c.2382G>C (p.(=)),NM_002673.4(PLXNB1) c.2382G>C (p.(=)):0.43,0.43:0.524861,0.524861 3 48461613 . T G 12 sb VT=SNV;PN=G;NN=G;SST=Single;DP=76;Gene=PLXNB1/NM_002673.5/1;CC=c.2082A>C;ProtCh=p.P694=;VC=Silent;Gene=PLXNB1/NM_001130082.2/0;CC=c.2082A>C;ProtCh=p.P694=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,C,G,T:76:50:0:0:1,1,11,63:11,9,202,1648:-0.20,-0.26,12.13,0.00:-0.08,-0.14,-2.17,0.00:-0.12,-0.12,14.30,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.98,0.00:60,60,60,60:25.0,71.0,77.9,14.1:0,0,0,0:0,0,0,0:118,92,47,60:33,57,88,73:0,0,11,24:NM_002673.4(PLXNB1) c.2082A>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 48461667 . C . . NT END=48462073;NT GT ./. 3 48462183 . C . . NT END=48462256;NT GT ./. 3 48462366 . C . . NT END=48462636;NT GT ./. 3 48462461 rs11130171 A G 186 nt VT=SNV;PN=C;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.6188,A/0.3812;Gene=PLXNB1/NM_002673.5/1;CC=c.1811-96T>C;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.1811-96T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:G:52:20:0:0:52:1612:185.97:64.11:121.86:1.00:1.00:1.00:60:38.7:0:0:80:70:43:NM_002673.4(PLXNB1) c.1811-96T>C,NM_002673.4(PLXNB1) c.1811-96T>C:0.38,0.38:NOT_FOUND,NOT_FOUND 3 48462794 . C . . NT END=48463082;NT GT ./. 3 48463216 . C . . NT END=48463513;NT GT ./. 3 48463615 . C . . NT END=48463739;NT GT ./. 3 48463618 rs9883759 T A 346 nt VT=SNV;PN=G;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.6803,T/0.3197;PC=0.081;Gene=PLXNB1/NM_002673.5/1;CC=c.1420-4A>T;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.1420-4A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:94:66:0:0:92,1,1:3050,10,13:346.44,0.10,0.00:178.43,0.10,0.00:168.01,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:52.1,63.0,61.0:0,0,0:0,0,0:73,23,32:77,128,119:37,0,0:NM_002673.4(PLXNB1) c.1420-4A>T,NM_002673.4(PLXNB1) c.1420-4A>T:0.34,0.34:0.404967,0.404967 3 48463711 rs9883927 T C 408 nt VT=SNV;PN=G;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.6186,T/0.3814;Gene=PLXNB1/NM_002673.5/1;CC=c.1419+29A>G;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.1419+29A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:111:76:0:0:110,1:3584,34:408.22,0.00:229.25,0.00:178.97,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.3,98.0:0,0:0,0:78,22:71,129:35,0:NM_002673.4(PLXNB1) c.1419+29A>G,NM_002673.4(PLXNB1) c.1419+29A>G:0.38,0.38:0.466933,0.466933 3 48463869 . C . . NT END=48464173;NT GT ./. 3 48464357 . C . . NT END=48464913;NT GT ./. 3 48464503 rs6442120 C T 66 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.6803,C/0.3197;Gene=PLXNB1/NM_002673.5/1;CC=c.1108-147G>A;VC=Intron;Gene=PLXNB1/NM_001130082.2/0;CC=c.1108-147G>A;VC=Intron;DM=PLXNB1/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C,T:20:1:0:0:1,19:21,588:0.00,66.11:0.00,3.05:0.00,63.06:0.00,1.00:0.00,0.97:0.00,1.00:60,60:0.0,35.6:0,0:0,0:36,106:114,45:0,28:NM_002673.4(PLXNB1) c.1108-147G>A,NM_002673.4(PLXNB1) c.1108-147G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 3 48466021 . G . . NT END=48473817;NT GT ./. 3 48474249 rs2279077 A G 554 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=154;DB;DBA=NA;PAF=G/0.6801,A/0.3199;PC=1.000;Gene=CCDC51/NM_001256964.1/1;CC=c.805T>C;ProtCh=p.L269=;VC=Silent;Gene=CCDC51/NM_001256965.2/0;CC=c.478T>C;ProtCh=p.L160=;VC=Silent;Gene=CCDC51/NM_001256966.2/0;CC=c.478T>C;ProtCh=p.L160=;VC=Silent;Gene=CCDC51/NM_001256967.2/0;CC=c.478T>C;ProtCh=p.L160=;VC=Silent;Gene=CCDC51/NM_001256968.2/0;CC=c.478T>C;ProtCh=p.L160=;VC=Silent;Gene=CCDC51/NM_001256969.2/0;CC=c.478T>C;ProtCh=p.L160=;VC=Silent;Gene=CCDC51/NM_024661.4/0;CC=c.805T>C;ProtCh=p.L269=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G,T:154:97:0:0:1,1,150,2:10,5,4857,20:0.00,0.01,554.00,0.27:0.00,-0.00,269.98,0.27:0.00,0.01,284.02,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:154.0,152.0,40.6,90.5:0,0,0,0:0,0,0,0:84,107,83,106:67,43,65,45:0,0,32,42:NM_001256964.1(CCDC51) c.805T>C (p.(=)),NM_001256964.1(CCDC51) c.805T>C (p.(=)):0.34,0.34:0.402273,0.402273 3 48474577 . C . . NT END=48475116;NT GT ./. 3 48475387 . C . . NT END=48476226;NT GT ./. 3 48476431 rs13062723 C G 482 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=129;DB;DBA=NA;PAF=G/0.01278,C/0.9872;PC=1.000;Gene=CCDC51/NM_001256964.1/1;CC=c.108G>C;ProtCh=p.L36=;VC=Silent;Gene=CCDC51/NM_001256965.2/0;CC=c.-319-6G>C;VC=Intron;Gene=CCDC51/NM_001256966.2/0;CC=c.-214-6G>C;VC=Intron;Gene=CCDC51/NM_001256967.2/0;CC=c.-209-11G>C;VC=Intron;Gene=CCDC51/NM_001256968.2/0;CC=c.-214-6G>C;VC=Intron;Gene=CCDC51/NM_001256969.2/0;CC=c.-209-11G>C;VC=Intron;Gene=CCDC51/NM_024661.4/0;CC=c.108G>C;ProtCh=p.L36=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:129:85:0:0:129:4206:481.84:243.12:238.71:1.00:1.00:1.00:60:42.8:0:0:83:65:40:NM_001256964.1(CCDC51) c.=,NM_001256964.1(CCDC51) c.=:0.99,0.99:0.990448,0.990448 3 48476539 . C . . NT END=48481706;NT GT ./. 3 48481434 rs9876891 G T 54 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6805,G/0.3195;PC=0.002;Gene=CCDC51/NM_001256964.1/1;CC=c.-45C>A;VC=5UTR;Gene=CCDC51/NM_001256965.2/0;CC=c.-356C>A;VC=5UTR;Gene=CCDC51/NM_001256966.2/0;CC=c.-251C>A;VC=5UTR;Gene=CCDC51/NM_001256967.2/0;CC=c.-246C>A;VC=5UTR;Gene=CCDC51/NM_001256968.2/0;CC=c.-215+72C>A;VC=Intron;Gene=CCDC51/NM_001256969.2/0;CC=c.-210+72C>A;VC=Intron;Gene=CCDC51/NM_024661.4/0;CC=c.-9+72C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:16:0:0:16:466:54.20:54.20:0.00:1.00:1.00:0.00:60:40.5:0:0:24:127:10:NM_001256964.1(CCDC51) c.-45C>A,NM_001256964.1(CCDC51) c.-45C>A:0.34,0.34:NOT_FOUND,NOT_FOUND 3 48481647 rs3774808 G A 506 nt VT=SNV;PN=A;NN=A;SST=Single;DP=140;DB;DBA=NA;PAF=A/0.6803,G/0.3197 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:140:117:0:0:139,1:4423,35:505.93,0.00:328.09,0.00:177.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,0.0:0,0:0,0:58,97:88,53:32,0:NM_001256964.1(CCDC51) c.-140-u118C>T,NM_001256964.1(CCDC51) c.-140-u118C>T:0.34,0.34:0.404438,0.404438 3 48481723 . G . . NT END=48481812;NT GT ./. 3 48481869 . g . . NT END=48481950;NT GT ./. 3 48482039 . G . . NT END=48485255;NT GT ./. 3 48484943 rs35356755 GA G 10 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;PC=0.015;Gene=TMA7/NM_015933.4/1;CC=c.161-298delA;VC=Intron;DM=TMA7/TMA7;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:GA,I,G:6:6:1:3:2,1,3:49,33,102:0.00,2.84,10.13:0.00,2.84,8.34:0.00,0.00,1.79:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.67:60,60,60:30.5,32.0,23.7:0,0,0:0,0,0:32,26,95:118,112,55:3,0,13:-,NM_015933.3(TMA7) c.161-312delA:-,NOT_FOUND:-,NOT_FOUND 3 48485291 . G . . NT END=48488249;NT GT ./. 3 48485493 rs7126 A G 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6799,A/0.3201;Gene=TMA7/NM_015933.4/1;CC=c.*203A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:185:21.33:0.00:21.33:1.00:0.00:1.00:60:41.8:0:0:51:99:27:NM_015933.3(TMA7) c.*203A>G,NM_015933.3(TMA7) c.*203A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 3 48488927 . G . . NT END=48491442;NT GT ./. 3 48491350 rs569731388 G GA 21 sb;idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;Gene=ATRIP/NM_001271022.1/1;CC=c.-217-78_-217-77insA;VC=Intron;Gene=ATRIP/NM_032166.3/0;CC=c.248-78_248-77insA;VC=Intron;Gene=ATRIP/NM_130384.2/0;CC=c.248-78_248-77insA;VC=Intron;Gene=ATRIP/NM_001271023.1/0;CC=c.-32-78_-32-77insA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,C,G,GA,D:20:16:9:1:5,1,6,7,1:154,13,206,280,29:13.90,0.43,0.00,20.66,1.91:2.22,-0.11,0.00,19.10,-0.11:11.68,0.54,0.00,1.56,2.02:0.00,0.00,0.00,0.97,0.00:0.00,0.00,0.00,0.99,0.00:0.00,0.00,0.00,0.93,0.00:60,60,60,60,60:45.0,125.0,40.0,30.1,0.0:0,0,0,2,0:0,0,0,0,0:6,9,47,22,7:144,139,103,129,142:3,0,41,15,0:-,NM_130384.2(ATRIP) c.248-93_248-92insA:-,NOT_FOUND:-,NOT_FOUND 3 48491577 . G . . NT END=48491898;NT GT ./. 3 48491982 . G . . NT END=48493134;NT GT ./. 3 48491995 . AT A 7 rn VT=DEL;SST=Single;DP=19;PC=0.001;Gene=ATRIP/NM_001271022.1/1;CC=c.-1+34delT;VC=Intron;Gene=ATRIP/NM_032166.3/0;CC=c.381+439delT;VC=Intron;Gene=ATRIP/NM_130384.2/0;CC=c.381+439delT;VC=Intron;Gene=ATRIP/NM_001271023.1/0;CC=c.102+439delT;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AT,I,A:19:8:1:3:15,1,3:463,31,93:0.00,1.95,7.21:0.00,-0.11,-0.34:0.00,2.06,7.55:0.00,0.00,0.51:0.00,0.00,0.70:0.00,0.00,0.90:60,60,70:16.5,0.0,12.7:0,0,0:0,0,0:126,120,120:19,30,30:11,0,10:-,NM_130384.2(ATRIP) c.381+420delT:-,NOT_FOUND:-,NOT_FOUND 3 48493306 . G . . NT END=48495699;NT GT ./. 3 48495819 . G . . NT END=48498658;NT GT ./. 3 48498817 . G . . NT END=48500757;NT GT ./. 3 48500854 . G . . NT END=48501185;NT GT ./. 3 48501316 . G . . NT END=48501508;NT GT ./. 3 48502199 . G . . NT END=48505143;NT GT ./. 3 48505281 . G . . NT END=48505439;NT GT ./. 3 48505302 rs6442124 A G 170 nt VT=SNV;PN=C;NN=T;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.6112,A/0.3888;Gene=ATRIP/NM_001271022.1/1;CC=c.1501+22A>G;VC=Intron;Gene=ATRIP/NM_032166.3/0;CC=c.1882+22A>G;VC=Intron;Gene=ATRIP/NM_130384.2/0;CC=c.1882+22A>G;VC=Intron;Gene=ATRIP/NM_001271023.1/0;CC=c.1603+22A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:G:47:31:0:0:47:1480:170.33:84.13:86.20:1.00:1.00:1.00:60:37.1:0:0:80:61:37:NM_130384.2(ATRIP) c.1882+22A>G,NM_130384.2(ATRIP) c.1882+22A>G:0.39,0.39:0.479702,0.479702 3 48505532 . G . . NT END=48505980;NT GT ./. 3 48505964 rs2242150 C A 164 nt VT=SNV;PN=A;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.6164,C/0.3836;Gene=ATRIP/NM_001271022.1/1;CC=c.1594-17C>A;VC=Intron;Gene=ATRIP/NM_032166.3/0;CC=c.1975-266C>A;VC=Intron;Gene=ATRIP/NM_130384.2/0;CC=c.1975-17C>A;VC=Intron;Gene=ATRIP/NM_001271023.1/0;CC=c.1696-17C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A,T:46:41:0:0:45,1:1428,8:163.81,0.12:114.69,0.12:49.12,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.3,110.0:0,0:0,0:37,93:104,34:29,0:NM_130384.2(ATRIP) c.1975-17C>A,NM_130384.2(ATRIP) c.1975-17C>A:0.38,0.38:0.469245,0.469245 3 48506062 . G . . NT END=48506229;NT GT ./. 3 48506483 . G . . NT END=48506885;NT GT ./. 3 48506954 . G . . NT END=48507889;NT GT ./. 3 48508585 rs11797 C T 303 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=199;DB;DBA=in-clinvar;PAF=T/0.6867,C/0.3133;PC=1.000;Gene=TREX1/NM_007248.3/1;CC=c.501C>T;ProtCh=p.Y167=;VC=Silent;Gene=TREX1/NM_016381.5/0;CC=c.696C>T;ProtCh=p.Y232=;VC=Silent;Gene=TREX1/NM_033629.4/0;CC=c.531C>T;ProtCh=p.Y177=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:199:126:0:0:95,104:3083,3132:0.00,302.77:0.00,147.77:0.00,155.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.2,39.0:0,0:0,0:88,80:58,65:40,37:-,NM_016381.4(TREX1) c.696C>T (p.(=)):-,0.33:-,0.393126 3 48509000 . G . . NT END=48509545;NT GT ./. 3 48510973 . C . . NT END=48511085;NT GT ./. 3 48511243 . C . . NT END=48514418;NT GT ./. 3 48514743 . A . . NT END=48514842;NT GT ./. 3 48515002 . G . . NT END=48520585;NT GT ./. 3 48515221 rs187202071 G A 18 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=SHISA5/NM_001272068.1/0;CC=c.222-3979C>T;VC=Intron;Gene=SHISA5/NM_001272065.1/0;CC=c.294-3979C>T;VC=Intron;Gene=SHISA5/NM_016479.4/0;CC=c.315-3979C>T;VC=Intron;Gene=SHISA5/NM_001272067.1/0;CC=c.222-3979C>T;VC=Intron;Gene=SHISA5/NM_001272066.1/1;CC=c.222-3979C>T;VC=Intron;DM=SHISA5/Shisa;DM=SHISA5/Shisa;DM=SHISA5/Shisa GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:15:0:0:0:7,1,7:185,9,246:17.57,0.16,0.00:0.00,0.00,0.00:17.57,0.16,0.00:0.99,0.00,0.00:0.00,0.00,0.00:0.99,0.00,0.00:60,60,60:48.0,57.0,2.0:0,0,0:0,0,0:86,90,108:65,58,42:39,0,7:NM_016479.3(SHISA5) c.315-3979C>T,-:0.0009,-:NOT_FOUND,- 3 48520667 . C . . NT END=48538569;NT GT ./. 3 48528403 rs7433168 A C 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.09824,A/0.9018;PC=0.130;Gene=SHISA5/NM_001272068.1/0;CC=c.141-7737T>G;VC=Intron;Gene=SHISA5/NM_001272065.1/0;CC=c.213-7737T>G;VC=Intron;Gene=SHISA5/NM_016479.4/0;CC=c.234-7737T>G;VC=Intron;Gene=SHISA5/NM_001272067.1/0;CC=c.141-7737T>G;VC=Intron;Gene=SHISA5/NM_001272066.1/1;CC=c.141-7737T>G;VC=Intron;DM=SHISA5/Shisa;DM=SHISA5/Shisa;DM=SHISA5/Shisa GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:167:19.08:7.55:11.53:1.00:1.00:1.00:60:46.4:0:0:88:63:30:NM_016479.3(SHISA5) c.234-7737T>G,NM_016479.3(SHISA5) c.234-7737T>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 48538727 . C . . NT END=48540527;NT GT ./. 3 48540627 . C . . NT END=48541153;NT GT ./. 3 48541528 . G . . NT END=48557179;NT GT ./. 3 48557240 . C . . NT END=48559418;NT GT ./. 3 48559484 . C . . NT END=48560969;NT GT ./. 3 48561033 . C . . NT END=48561133;NT GT ./. 3 48561264 . C . . NT END=48562997;NT GT ./. 3 48563103 . C . . NT END=48572944;NT GT ./. 3 48573092 . C . . NT END=48573688;NT GT ./. 3 48573897 . C . . NT END=48575930;NT GT ./. 3 48576053 . C . . NT END=48576686;NT GT ./. 3 48576483 rs7615170 C G 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.02616,G/0.9738;Gene=PFKFB4/NM_001317134/0;CC=c.597+204G>C;VC=Intron;Gene=PFKFB4/NM_001317135/0;CC=c.510+204G>C;VC=Intron;Gene=PFKFB4/NM_001317137/0;CC=c.510+204G>C;VC=Intron;Gene=PFKFB4/NM_001317138/0;CC=c.-64+204G>C;VC=Intron;Gene=PFKFB4/NM_004567.2/1;CC=c.510+204G>C;VC=Intron;Gene=PFKFB4/NM_001317136/0;CC=c.477+204G>C;VC=Intron;DM=PFKFB4/6PF2K;DM=PFKFB4/6PF2K;DM=PFKFB4/6PF2K GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:6:0:0:7:208:24.13:21.86:2.27:1.00:1.00:1.00:60:31.4:0:0:31:119:24:NM_004567.2(PFKFB4) c.510+204G>C,NM_004567.2(PFKFB4) c.510+204G>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 48576744 . C . . NT END=48577129;NT GT ./. 3 48577205 . C . . NT END=48581012;NT GT ./. 3 48581080 . C . . NT END=48587296;NT GT ./. 3 48587394 . C . . NT END=48587550;NT GT ./. 3 48587668 . C . . NT END=48594113;NT GT ./. 3 48594357 . G . . NT END=48598484;NT GT ./. 3 48598549 . C . . NT END=48600218;NT GT ./. 3 48600145 rs78159609 C T 91 nt VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.985,T/0.01498;Gene=UCN2/NM_033199.3/1;CC=c.*74G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:51:0:0:26,27:792,941:0.00,91.05:0.00,82.50:0.00,8.54:0.00,1.00:0.00,1.00:0.00,0.99:60,60:11.5,40.0:0,0:0,0:38,49:113,102:27,28:-,NM_033199.3(UCN2) c.*74G>A:-,0.03:-,NOT_FOUND 3 48600558 . C . . NT END=48601838;NT GT ./. 3 48601856 . C . . NT END=48602215;NT GT ./. 3 48602414 . C . . NT END=48602541;NT GT ./. 3 48602523 rs7624006 G GGGC 193 nt VT=INS;SST=Single;DP=66;DB;DBA=NA;PAF=G/0,GG/.,GGGA/0.000599,GGGC/0.9994,GGGGC/.,GGGT/.,GTGC/.;DB;DBA=NA;PAF=NA;NP=3277;Gene=COL7A1/NM_000094.3/1;CC=c.8620+18_8620+19insGCC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,G,GGGC:66:37:58:0:2,6,58:64,169,1742:4.24,0.00,193.05:4.30,0.00,90.27:-0.07,0.00,102.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:96.5,16.3,16.8:1,0,0:0,0,0:14,144,62:135,2,88:14,1,34:-,NM_000094.3(COL7A1) c.8620+18_8620+19insGCC:-,NOT_FOUND:-,0.99984 3 48602635 . C . . NT END=48602842;NT GT ./. 3 48602930 . C . . NT END=48603068;NT GT ./. 3 48603102 . C . . NT END=48603699;NT GT ./. 3 48603749 . C . . NT END=48603942;NT GT ./. 3 48603997 . C . . NT END=48604092;NT GT ./. 3 48604171 . C . . NT END=48604339;NT GT ./. 3 48604457 . C . . NT END=48604560;NT GT ./. 3 48604624 . C . . NT END=48605006;NT GT ./. 3 48605070 . C . . NT END=48605142;NT GT ./. 3 48605197 . C . . NT END=48605270;NT GT ./. 3 48605325 . C . . NT END=48605522;NT GT ./. 3 48605604 . C . . NT END=48605931;NT GT ./. 3 48605968 . C . . NT END=48606216;NT GT ./. 3 48606065 rs2532848 G T 56 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.9389,T/0.0611;Gene=COL7A1/NM_000094.3/1;CC=c.7759-98C>A;VC=Intron;DM=COL7A1/Collagen GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:42:28:0:0:21,21:671,588:0.00,56.14:0.00,40.25:0.00,15.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,46.9:0,0:0,0:58,108:93,43:32,28:-,NM_000094.3(COL7A1) c.7759-98C>A:-,0.09:-,NOT_FOUND 3 48606289 . C . . NT END=48606807;NT GT ./. 3 48606880 . C . . NT END=48607024;NT GT ./. 3 48607082 . C . . NT END=48607157;NT GT ./. 3 48607194 . C . . NT END=48607312;NT GT ./. 3 48607349 . C . . NT END=48607566;NT GT ./. 3 48607612 . C . . NT END=48607707;NT GT ./. 3 48607768 . C . . NT END=48607897;NT GT ./. 3 48607934 . C . . NT END=48608071;NT GT ./. 3 48608144 . C . . NT END=48608293;NT GT ./. 3 48608402 . C . . NT END=48608533;NT GT ./. 3 48608594 . C . . NT END=48608675;NT GT ./. 3 48608712 . C . . NT END=48609433;NT GT ./. 3 48609479 . C . . NT END=48609559;NT GT ./. 3 48609605 . C . . NT END=48609812;NT GT ./. 3 48609855 . C . . NT END=48609935;NT GT ./. 3 48609972 . C . . NT END=48610103;NT GT ./. 3 48610173 . C . . NT END=48610294;NT GT ./. 3 48610376 . C . . NT END=48610453;NT GT ./. 3 48610490 . C . . NT END=48610606;NT GT ./. 3 48610670 . C . . NT END=48610748;NT GT ./. 3 48610782 . C . . NT END=48610945;NT GT ./. 3 48610991 . C . . NT END=48611122;NT GT ./. 3 48611159 . C . . NT END=48611287;NT GT ./. 3 48611324 . C . . NT END=48611694;NT GT ./. 3 48611740 . C . . NT END=48611920;NT GT ./. 3 48611984 . C . . NT END=48612109;NT GT ./. 3 48612155 . C . . NT END=48612229;NT GT ./. 3 48612299 . C . . NT END=48612496;NT GT ./. 3 48612471 rs76140443 G A 84 nt VT=SNV;PN=G;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.9698,A/0.03015;PC=0.199;Gene=COL7A1/NM_000094.3/1;CC=c.6279+26C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:55:0:0:30,40:903,1169:83.83,0.00:61.98,0.00:21.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,25.6:0,0:0,0:61,40:89,104:40,28:NM_000094.3(COL7A1) c.6279+26C>T,-:0.05,-:0.056736,- 3 48612560 . C . . NT END=48612639;NT GT ./. 3 48612676 . C . . NT END=48612771;NT GT ./. 3 48612973 . C . . NT END=48613058;NT GT ./. 3 48613182 . C . . NT END=48613299;NT GT ./. 3 48613336 . C . . NT END=48613681;NT GT ./. 3 48613730 . C . . NT END=48613832;NT GT ./. 3 48613869 . C . . NT END=48613954;NT GT ./. 3 48613991 . C . . NT END=48614108;NT GT ./. 3 48614205 . C . . NT END=48614316;NT GT ./. 3 48614353 . C . . NT END=48614424;NT GT ./. 3 48614461 . C . . NT END=48615753;NT GT ./. 3 48615597 . C CA 8 rn VT=INS;SST=Single;DP=11;NP=2;PC=0.011;Gene=COL7A1/NM_000094.3/1;CC=c.5532+156_5532+157insT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,CA,D:11:11:3:1:7,3,1:241,94,33:0.00,8.17,2.45:0.00,8.17,2.45:0.00,0.00,0.00:0.00,0.60,0.00:0.00,0.60,0.00:0.00,0.00,0.00:60,60,60:35.3,33.0,0.0:0,0,0:0,0,0:34,52,26:98,99,123:28,2,0:-,NM_000094.3(COL7A1) c.5532+156_5532+157insT:-,NOT_FOUND:-,NOT_FOUND 3 48615799 . C . . NT END=48615885;NT GT ./. 3 48615949 . C . . NT END=48616351;NT GT ./. 3 48616388 . C . . NT END=48616629;NT GT ./. 3 48616711 . C . . NT END=48616801;NT GT ./. 3 48616838 . C . . NT END=48616912;NT GT ./. 3 48616949 . C . . NT END=48617020;NT GT ./. 3 48617102 . C . . NT END=48617217;NT GT ./. 3 48617248 . C . . NT END=48617463;NT GT ./. 3 48617491 . C . . NT END=48617732;NT GT ./. 3 48617778 . C . . NT END=48618013;NT GT ./. 3 48618086 . C . . NT END=48618314;NT GT ./. 3 48618360 . C . . NT END=48618554;NT GT ./. 3 48618591 . C . . NT END=48618692;NT GT ./. 3 48618774 . C . . NT END=48618880;NT GT ./. 3 48618917 . C . . NT END=48619005;NT GT ./. 3 48619066 . C . . NT END=48619138;NT GT ./. 3 48619193 . C . . NT END=48619343;NT GT ./. 3 48619377 . C . . NT END=48619755;NT GT ./. 3 48619792 . C . . NT END=48619910;NT GT ./. 3 48619947 . C . . NT END=48620041;NT GT ./. 3 48620087 . C . . NT END=48620445;NT GT ./. 3 48620482 . C . . NT END=48620559;NT GT ./. 3 48620605 . C . . NT END=48620825;NT GT ./. 3 48620862 . C . . NT END=48620988;NT GT ./. 3 48621049 . C . . NT END=48621150;NT GT ./. 3 48621214 . C . . NT END=48621332;NT GT ./. 3 48621387 . C . . NT END=48621467;NT GT ./. 3 48621495 . C . . NT END=48621730;NT GT ./. 3 48621809 . C . . NT END=48621917;NT GT ./. 3 48621990 . C . . NT END=48622166;NT GT ./. 3 48622203 . C . . NT END=48622342;NT GT ./. 3 48622379 . C . . NT END=48622468;NT GT ./. 3 48622550 . C . . NT END=48622989;NT GT ./. 3 48623053 . C . . NT END=48623122;NT GT ./. 3 48623168 . C . . NT END=48623262;NT GT ./. 3 48623290 . C . . NT END=48623372;NT GT ./. 3 48623409 . C . . NT END=48623506;NT GT ./. 3 48623680 . C . . NT END=48623764;NT GT ./. 3 48623912 . C . . NT END=48623995;NT GT ./. 3 48624123 . C . . NT END=48624404;NT GT ./. 3 48624542 . C . . NT END=48624622;NT GT ./. 3 48624770 . C . . NT END=48624852;NT GT ./. 3 48624988 . C . . NT END=48625225;NT GT ./. 3 48625266 rs1264194 T C 161 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.3189,A/.,C/0.6811;Gene=COL7A1/NM_000094.3/1;CC=c.2817A>G;ProtCh=p.P939=;VC=Silent;DM=COL7A1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:123:98:0:0:55,68:1716,2293:161.06,0.00:106.92,0.00:54.14,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,8.6:0,0:0,0:62,63:87,74:29,35:NM_000094.3(COL7A1) c.2817A>G (p.(=)),-:0.66,-:0.773643,- 3 48625373 . C . . NT END=48625714;NT GT ./. 3 48625838 . C . . NT END=48626074;NT GT ./. 3 48626047 rs76683871 G A 183 nt VT=SNV;PN=C;NN=A;SST=Single;DP=98;DB;DBA=NA;PAF=G/0.9872,A/0.01278;Gene=COL7A1/NM_000094.3/1;CC=c.2587+28C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:98:67:0:0:56,42:1852,1315:182.92,0.00:92.41,0.00:90.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,5.7:0,0:0,0:67,41:81,104:27,23:NM_000094.3(COL7A1) c.2587+28C>T,-:0.02,-:0.026449,- 3 48626222 . C . . NT END=48626302;NT GT ./. 3 48626429 . C . . NT END=48626759;NT GT ./. 3 48626904 . C . . NT END=48627031;NT GT ./. 3 48627152 . C . . NT END=48627645;NT GT ./. 3 48627790 . C . . NT END=48627891;NT GT ./. 3 48628018 . C . . NT END=48628105;NT GT ./. 3 48628250 . C . . NT END=48628896;NT GT ./. 3 48629026 . C . . NT END=48629105;NT GT ./. 3 48629256 . C . . NT END=48629330;NT GT ./. 3 48629448 . C . . NT END=48629534;NT GT ./. 3 48629682 . C . . NT END=48629783;NT GT ./. 3 48629901 . C . . NT END=48630002;NT GT ./. 3 48630133 . C . . NT END=48630207;NT GT ./. 3 48630372 . C . . NT END=48630534;NT GT ./. 3 48630697 . C . . NT END=48630788;NT GT ./. 3 48630883 . C . . NT END=48630969;NT GT ./. 3 48631130 . C . . NT END=48631800;NT GT ./. 3 48631982 . C . . NT END=48632507;NT GT ./. 3 48632593 . C . . NT END=48636560;NT GT ./. 3 48636507 rs9166 G T 50 nt VT=SNV;PN=T;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.9874,T/0.01258;PC=0.020;Gene=UQCRC1/NM_003365.2/1;CC=c.*54C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:38:35:0:2:21,17:684,536:0.00,50.35:0.00,38.83:0.00,11.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,38.1:0,0:0,0:67,36:84,115:23,19:-,NM_003365.2(UQCRC1) c.*54C>A:-,0.02:-,0.026293 3 48636626 . C . . NT END=48637067;NT GT ./. 3 48637144 . C . . NT END=48637495;NT GT ./. 3 48637585 . C . . NT END=48637914;NT GT ./. 3 48638001 . C . . NT END=48638112;NT GT ./. 3 48638274 . C . . NT END=48638407;NT GT ./. 3 48638552 . C . . NT END=48638784;NT GT ./. 3 48638904 . C . . NT END=48640996;NT GT ./. 3 48641077 . C . . NT END=48641665;NT GT ./. 3 48641865 . C . . NT END=48642083;NT GT ./. 3 48642214 . C . . NT END=48643202;NT GT ./. 3 48643290 . C . . NT END=48646594;NT GT ./. 3 48646736 . C . . NT END=48646984;NT GT ./. 3 48647347 . G . . NT END=48658274;NT GT ./. 3 48658461 . C . . NT END=48658895;NT GT ./. 3 48659190 . G . . NT END=48663418;NT GT ./. 3 48663344 rs141959192 C T 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=43;DB;DBA=NA;PAF=C/0.9934,T/0.006589;Gene=SLC26A6/NM_001040454.1/0;CC=c.*75G>A;VC=3UTR;Gene=SLC26A6/NM_001281732.1/0;CC=c.*75G>A;VC=3UTR;Gene=SLC26A6/NM_001281733.1/0;CC=c.*75G>A;VC=3UTR;Gene=SLC26A6/NM_022911.2/0;CC=c.*75G>A;VC=3UTR;Gene=SLC26A6/NM_134263.2/1;CC=c.*75G>A;VC=3UTR;Gene=SLC26A6/NM_134426.2/0;CC=c.*75G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:43:37:0:0:25,18:743,505:0.00,46.39:0.00,30.24:0.00,16.14:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,33.7:0,0:0,0:43,34:107,110:26,22:-,NM_022911.2(SLC26A6) c.*75G>A:-,0.01:-,0.011832 3 48663434 . C . . NT END=48663650;NT GT ./. 3 48663788 . C . . NT END=48664063;NT GT ./. 3 48664119 . C . . NT END=48664308;NT GT ./. 3 48664506 . C . . NT END=48665378;NT GT ./. 3 48665472 . C . . NT END=48665847;NT GT ./. 3 48665975 . C . . NT END=48666054;NT GT ./. 3 48666148 . C . . NT END=48667074;NT GT ./. 3 48667145 . C . . NT END=48667304;NT GT ./. 3 48667412 . C . . NT END=48667494;NT GT ./. 3 48667591 . C . . NT END=48667870;NT GT ./. 3 48667949 . C . . NT END=48668039;NT GT ./. 3 48668154 . C . . NT END=48668425;NT GT ./. 3 48668574 . C . . NT END=48668656;NT GT ./. 3 48668740 . C . . NT END=48669081;NT GT ./. 3 48669235 . C . . NT END=48669312;NT GT ./. 3 48669526 . C . . NT END=48669677;NT GT ./. 3 48669830 . C . . NT END=48670406;NT GT ./. 3 48670518 . C . . NT END=48670683;NT GT ./. 3 48670824 . C . . NT END=48670909;NT GT ./. 3 48671280 . C . . NT END=48672163;NT GT ./. 3 48672174 . C . . NT END=48672803;NT GT ./. 3 48672827 . G . . NT END=48675637;NT GT ./. 3 48675666 . C . . NT END=48677106;NT GT ./. 3 48677993 . C . . NT END=48678756;NT GT ./. 3 48678958 . C . . NT END=48679283;NT GT ./. 3 48679443 . C . . NT END=48679790;NT GT ./. 3 48679901 . C . . NT END=48680168;NT GT ./. 3 48680318 . C . . NT END=48680399;NT GT ./. 3 48680517 . C . . NT END=48680986;NT GT ./. 3 48681111 . C . . NT END=48681648;NT GT ./. 3 48681729 . C . . NT END=48682148;NT GT ./. 3 48681765 rs147930066 CAG C 18 idl,rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=205;PC=0.002;Gene=CELSR3/NM_001407.2/1;CC=c.8086-39_8086-38delCT;VC=Intron;DM=CELSR3/7tm_2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:A,CAG,C:54:35:0:11:1,45,8:10,1517,337:-0.19,0.00,17.80:-0.12,0.00,8.09:-0.07,0.00,9.70:0.00,0.00,0.95:0.00,0.00,0.98:0.00,0.00,1.00:60,60,60:47.0,12.2,9.0:0,0,3:0,0,0:55,99,90:96,47,61:0,18,13:-,NM_001407.2(CELSR3) c.8086-39_8086-38delCT:-,NOT_FOUND:-,NOT_FOUND 3 48682262 . C . . NT END=48682467;NT GT ./. 3 48682643 . C . . NT END=48682875;NT GT ./. 3 48683083 . C . . NT END=48683174;NT GT ./. 3 48683302 . C . . NT END=48683522;NT GT ./. 3 48683691 . C . . NT END=48684195;NT GT ./. 3 48684362 . C . . NT END=48685273;NT GT ./. 3 48685430 . C . . NT END=48685698;NT GT ./. 3 48685895 . C . . NT END=48686151;NT GT ./. 3 48686362 . C . . NT END=48686553;NT GT ./. 3 48686649 . C . . NT END=48687912;NT GT ./. 3 48688015 . C . . NT END=48688324;NT GT ./. 3 48688509 . C . . NT END=48688791;NT GT ./. 3 48688913 . C . . NT END=48689009;NT GT ./. 3 48689152 . C . . NT END=48689309;NT GT ./. 3 48689482 . C . . NT END=48689869;NT GT ./. 3 48689987 . C . . NT END=48690434;NT GT ./. 3 48690621 . C . . NT END=48691051;NT GT ./. 3 48691222 . C . . NT END=48691310;NT GT ./. 3 48691437 . C . . NT END=48691721;NT GT ./. 3 48691886 . C . . NT END=48692476;NT GT ./. 3 48692635 . C . . NT END=48692738;NT GT ./. 3 48692828 . C . . NT END=48693168;NT GT ./. 3 48693285 . C . . NT END=48693572;NT GT ./. 3 48693799 . C . . NT END=48694130;NT GT ./. 3 48694782 . C . . NT END=48696319;NT GT ./. 3 48700068 . c . . NT END=48701369;NT GT ./. 3 48701568 . C . . NT END=48711271;NT GT ./. 3 48712181 . C . . NT END=48715996;NT GT ./. 3 48716170 . C . . NT END=48716309;NT GT ./. 3 48716403 . C . . NT END=48716487;NT GT ./. 3 48716617 . C . . NT END=48716809;NT GT ./. 3 48716891 . C . . NT END=48717007;NT GT ./. 3 48717147 . C . . NT END=48717233;NT GT ./. 3 48717321 . C . . NT END=48717491;NT GT ./. 3 48717663 . C . . NT END=48718719;NT GT ./. 3 48719214 . C . . NT END=48719477;NT GT ./. 3 48719590 . C . . NT END=48719780;NT GT ./. 3 48719638 rs7633840 T C 115 nt VT=SNV;PN=G;NN=C;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.2692,C/0.7308;PC=0.001;Gene=NCKIPSD/NM_016453.3/0;CC=c.487-49A>G;VC=Intron;Gene=NCKIPSD/NM_184231.2/1;CC=c.487-70A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:66:44:0:0:1,36,29:12,1170,920:0.03,114.71,0.00:0.12,70.73,0.00:-0.09,43.98,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:83.0,46.4,22.6:0,0,0:0,0,0:131,104,95:20,44,55:0,28,40:NM_016453.2(NCKIPSD) c.487-49A>G,-:0.69,-:0.595341,- 3 48719986 . C . . NT END=48720335;NT GT ./. 3 48720475 . C . . NT END=48723069;NT GT ./. 3 48723247 . G . . NT END=48725705;NT GT ./. 3 48723302 rs6792510 G C 89 nt VT=SNV;PN=C;NN=G;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.245,C/0.755;PC=0.047;Gene=NCKIPSD/NM_016453.3/0;CC=c.-62C>G;VC=5UTR;Gene=NCKIPSD/NM_184231.2/1;CC=c.-62C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:67:19:0:0:31,36:945,1059:89.26,0.00:13.25,0.00:76.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:50.5,10.9:0,0:0,0:122,106:28,40:15,30:NM_016453.2(NCKIPSD) c.-62C>G,-:0.69,-:NOT_FOUND,- 3 48726207 . C . . NT END=48726970;NT GT ./. 3 48727112 rs4858798 G A 112 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.2628,A/0.7372;PC=0.314;Gene=IP6K2/NM_001005909.2/1;CC=c.639C>T;ProtCh=p.Y213=;VC=Silent;Gene=IP6K2/NM_016291.3/0;CC=c.639C>T;ProtCh=p.Y213=;VC=Silent;DM=IP6K2/IPK GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:44:0:0:36,40:1180,1288:112.39,0.00:51.35,0.00:61.04,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,1.1:0,0:0,0:109,101:40,45:24,31:NM_016291.3(IP6K2) c.639C>T (p.(=)),-:0.7,-:0.596571,- 3 48727147 . C . . NT END=48728739;NT GT ./. 3 48728916 . C . . NT END=48730386;NT GT ./. 3 48730613 . C . . NT END=48730880;NT GT ./. 3 48732846 rs61740999 G A 180 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.9882,A/0.01178;PC=0.979;Gene=IP6K2/NM_001005909.2/1;CC=c.-122C>T;VC=5UTR;Gene=IP6K2/NM_016291.3/0;CC=c.-122C>T;VC=5UTR;Gene=IP6K2/NM_001005910.2/0;CC=c.-122C>T;VC=5UTR;Gene=IP6K2/NM_001005911.2/0;CC=c.-122C>T;VC=5UTR;Gene=IP6K2/NM_001146178.2/0;CC=c.-122C>T;VC=5UTR;Gene=IP6K2/NM_001146179.2/0;CC=c.-122C>T;VC=5UTR;Gene=IP6K2/NM_001190316.1/0;CC=c.44C>T;ProtCh=p.S15F;VC=Missense;Gene=IP6K2/NM_001190317.1/0;CC=c.53C>T;ProtCh=p.S18F;VC=Missense;Gene=IP6K2/NR_027437.2/0;VC=NonCoding;Gene=IP6K2/NR_027438.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:132:85:0:0:60,1,71:1903,8,2348:179.68,-0.20,0.00:83.04,-0.06,0.00:96.64,-0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.3,8.0,5.6:0,0,0:0,0,0:89,135,71:59,14,80:30,0,34:NM_016291.3(IP6K2) c.-122C>T,-:0.02,-:NOT_FOUND,- 3 48732855 . C . . NT END=48752747;NT GT ./. 3 48752869 . C . . NT END=48789016;NT GT ./. 3 48789152 . C . . NT END=48789607;NT GT ./. 3 48789751 . C . . NT END=48793810;NT GT ./. 3 48793878 . C . . NT END=48802435;NT GT ./. 3 48802512 . C . . NT END=48802679;NT GT ./. 3 48802783 . C . . NT END=48810386;NT GT ./. 3 48810542 . C . . NT END=48820417;NT GT ./. 3 48820526 . C . . NT END=48827975;NT GT ./. 3 48828061 . C . . NT END=48831428;NT GT ./. 3 48831483 . C . . NT END=48845080;NT GT ./. 3 48831587 . C CT 15 rn VT=INS;SST=Single;DP=13;NP=1;Gene=PRKAR2A/NM_004157.2/1;CC=c.299-106_299-105insA;VC=Intron;DM=PRKAR2A/cNMP_binding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:141:C,CT,D:13:1:5:1:7,5,1:239,159,33:0.00,14.73,2.42:0.00,0.00,1.33:0.00,14.73,1.09:0.00,0.91,0.00:0.00,0.59,0.00:0.00,0.91,0.00:60,60,60:23.7,5.8,0.0:0,0,0:0,0,0:113,76,109:38,75,42:24,25,0:-,NM_004157.2(PRKAR2A) c.299-106_299-105insA:-,NOT_FOUND:-,NOT_FOUND 3 48845118 . C . . NT END=48884766;NT GT ./. 3 48885032 . C . . NT END=48895142;NT GT ./. 3 48895206 . C . . NT END=48895939;NT GT ./. 3 48895401 . CT C 13 rn VT=DEL;SST=Single;DP=7;PC=0.008;Gene=SLC25A20/NM_000387.5/1;CC=c.844-197delA;VC=Intron;DM=SLC25A20/Mito_carr;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:CT,C:7:0:0:4:3,4:78,129:0.00,12.75:0.00,0.00:0.00,12.75:0.00,0.90:0.00,0.00:0.00,0.90:60,70:54.0,0.0:0,0:0,0:99,86:52,64:1,37:-,NM_000387.5(SLC25A20) c.844-197delA:-,NOT_FOUND:-,NOT_FOUND 3 48896065 . C . . NT END=48896524;NT GT ./. 3 48896635 . C . . NT END=48896987;NT GT ./. 3 48897061 . C . . NT END=48899974;NT GT ./. 3 48897078 rs6414612 A G 147 nt VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=in-clinvar;PAF=A/0.004792,G/0.9952;NP=3465;PC=0.950;Gene=SLC25A20/NM_000387.5/1;CC=c.536-18T>C;VC=Intron;DM=SLC25A20/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G:38:21:0:0:38:1290:147.10:55.68:91.42:1.00:1.00:1.00:60:39.8:0:0:83:64:22:NM_000387.5(SLC25A20) c.536-18T>C,NM_000387.5(SLC25A20) c.536-18T>C:0.99,0.99:0.993311,0.993311 3 48900093 . C . . NT END=48916790;NT GT ./. 3 48916882 . C . . NT END=48921429;NT GT ./. 3 48921558 . C . . NT END=48929412;NT GT ./. 3 48929506 . C . . NT END=48936122;NT GT ./. 3 48936228 . G . . NT END=48955709;NT GT ./. 3 48956583 . T . . NT END=48964991;NT GT ./. 3 48965247 . G . . NT END=48971754;NT GT ./. 3 48972351 rs7653408 A C 128 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.09685,C/0.9032;Gene=ARIH2/NM_001317333/0;CC=c.255+7105A>C;VC=Intron;Gene=ARIH2/NM_001317334/0;CC=c.-172+15920A>C;VC=Intron;Gene=ARIH2/NM_006321.2/1;CC=c.255+7105A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:74:41:0:0:33,41:1052,1301:0.00,127.50:0.00,48.16:0.00,79.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.1,36.3:0,0:0,0:92,96:57,55:36,24:-,XR_110002.1(LOC100506651) n.896A>C:-,0.88:-,NOT_FOUND 3 48972385 . G . . NT END=48982568;NT GT ./. 3 48982615 . G . . NT END=48999044;NT GT ./. 3 48982732 rs9864243 G A 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.09804,A/0.902;PC=0.005;Gene=ARIH2/NM_001317333/0;CC=c.256-16313G>A;VC=Intron;Gene=ARIH2/NM_001317334/0;CC=c.-171-16313G>A;VC=Intron;Gene=ARIH2/NM_006321.2/1;CC=c.256-16313G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:0:0:0:10,11:295,369:27.96,0.00:0.00,0.00:27.96,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:39.7,22.5:0,0:0,0:71,96:78,55:37,35:NM_006321.2(ARIH2) c.256-16313G>A,-:0.87,-:NOT_FOUND,- 3 48982774 rs80245267 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.9938,T/0.00619;Gene=ARIH2/NM_001317333/0;CC=c.256-16271C>T;VC=Intron;Gene=ARIH2/NM_001317334/0;CC=c.-171-16271C>T;VC=Intron;Gene=ARIH2/NM_006321.2/1;CC=c.256-16271C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:0:0:0:8,6:238,207:0.00,19.41:0.00,0.00:0.00,19.41:0.00,0.96:0.00,0.00:0.00,0.96:60,60:26.2,37.7:0,0:0,0:85,116:65,34:21,21:-,NM_006321.2(ARIH2) c.256-16271C>T:-,0.01:-,NOT_FOUND 3 48999113 . G . . NT END=49002351;NT GT ./. 3 49002416 . G . . NT END=49004557;NT GT ./. 3 49004709 . G . . NT END=49005966;NT GT ./. 3 49004723 rs6446196 A G 195 nt VT=SNV;PN=A;NN=A;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.2276,G/0.7724;Gene=ARIH2/NM_001317333/0;CC=c.538+15A>G;VC=Intron;Gene=ARIH2/NM_001317334/0;CC=c.112+15A>G;VC=Intron;Gene=ARIH2/NM_006321.2/1;CC=c.538+15A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:56:0:0:46,58:1486,1979:0.00,194.57:0.00,70.00:0.00,124.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,41.4:0,0:0,0:106,105:45,37:27,25:-,NM_006321.2(ARIH2) c.538+15A>G:-,0.73:-,0.638628 3 49006089 . G . . NT END=49008027;NT GT ./. 3 49008138 . G . . NT END=49011131;NT GT ./. 3 49011008 rs537764456 CA C 10 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CA/0.624,C/0.376;NP=16;PC=0.002;Gene=ARIH2/NM_001317333/0;CC=c.771-107delA;VC=Intron;Gene=ARIH2/NM_001317334/0;CC=c.345-107delA;VC=Intron;Gene=ARIH2/NM_006321.2/1;CC=c.771-107delA;VC=Intron;DM=ARIH2/IBR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:CA,I,C:22:23:2:5:16,2,4:507,65,162:0.00,4.70,10.35:0.00,4.70,10.35:0.00,0.00,0.00:0.00,0.00,0.69:0.00,0.00,0.69:0.00,0.00,0.00:60,60,70:18.7,0.0,18.2:0,0,1:0,0,0:36,57,12:114,93,137:25,54,12:-,NM_006321.2(ARIH2) c.771-123delA:-,NOT_FOUND:-,NOT_FOUND 3 49011250 . G . . NT END=49012249;NT GT ./. 3 49012301 . G . . NT END=49012390;NT GT ./. 3 49012482 . G . . NT END=49016914;NT GT ./. 3 49017067 . G . . NT END=49017785;NT GT ./. 3 49017930 . G . . NT END=49019092;NT GT ./. 3 49019162 . G . . NT END=49020328;NT GT ./. 3 49020413 . G . . NT END=49020631;NT GT ./. 3 49020704 . G . . NT END=49027689;NT GT ./. 3 49028044 . G . . NT END=49028265;NT GT ./. 3 49028348 . G . . NT END=49038870;NT GT ./. 3 49039062 . G . . NT END=49039932;NT GT ./. 3 49040030 . G . . NT END=49041530;NT GT ./. 3 49041694 . G . . NT END=49042293;NT GT ./. 3 49043024 . G . . NT END=49043150;NT GT ./. 3 49043301 . G . . NT END=49043496;NT GT ./. 3 49043621 . G . . NT END=49044119;NT GT ./. 3 49044341 . G . . NT END=49044774;NT GT ./. 3 49044767 rs6781790 C T 130 nt VT=SNV;PN=G;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.2458,T/0.7542;Gene=WDR6/NM_018031.3/1;CC=c.-8C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:102:90:0:0:54,1,47:1822,9,1379:0.00,-0.16,129.89:0.00,-0.09,94.28:0.00,-0.07,35.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:5.9,18.0,35.4:0,0,0:0,0,0:48,137,37:99,13,99:34,0,26:-,NM_018031.3(WDR6) c.-8C>T:-,0.72:-,0.614104 3 49044965 . G . . NT END=49044983;NT GT ./. 3 49045093 . G . . NT END=49048853;NT GT ./. 3 49048827 . CT C 8 sb;idl,rn VT=DEL;SST=Single;DP=58;NP=1;PC=0.200;Gene=WDR6/NM_018031.3/1;CC=c.191-227delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:CT,T,I,C:54:52:5:6:46,1,3,4:1463,34,153,182:0.00,1.77,5.72,8.15:0.00,-0.30,4.70,1.78:0.00,2.07,1.02,6.37:0.00,0.00,0.00,0.52:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.55:60,60,60,60:57.4,34.0,120.0,57.8:0,0,2,2:0,0,0,0:31,13,10,16:107,118,141,120:27,0,1,4:-,NM_018031.3(WDR6) c.191-240delT:-,NOT_FOUND:-,NOT_FOUND 3 49051550 . G . . NT END=49051642;NT GT ./. 3 49051727 . G . . NT END=49051815;NT GT ./. 3 49051933 . G . . NT END=49052032;NT GT ./. 3 49052152 . G . . NT END=49052257;NT GT ./. 3 49052722 . G . . NT END=49053020;NT GT ./. 3 49052785 rs8926 T A 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.2436,A/0.7564;PC=0.002;Gene=WDR6/NM_018031.3/1;CC=c.*64T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:68:19:0:0:34,1,33:1078,13,995:103.84,0.05,0.00:24.10,0.22,0.00:79.74,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.6,87.0,15.2:0,0,0:0,0,0:97,55,81:51,96,69:28,0,43:NM_001009996.1(DALRD3) c.*236A>T,-:0.73,-:NOT_FOUND,- 3 49053219 rs7100 A G 257 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=188;DB;DBA=NA;PAF=A/0.09465,G/0.9054;Gene=WDR6/NM_018031.3/1;CC=c.*498A>G;VC=3UTR;Gene=DALRD3/NM_001009996.2/1;CC=c.1512+18T>C;VC=Intron;Gene=DALRD3/NM_001276405.1/0;CC=c.1486+18T>C;VC=Intron;Gene=DALRD3/NM_018114.5/0;CC=c.1011+18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:188:115:0:0:102,86:3229,2720:0.00,256.64:0.00,95.59:0.00,161.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.0,43.5:0,0:0,0:84,73:66,68:32,40:-,NM_018031.3(WDR6) c.*498A>G:-,0.88:-,0.798401 3 49053774 . C . . NT END=49053861;NT GT ./. 3 49053945 . C . . NT END=49054044;NT GT ./. 3 49054107 . C . . NT END=49054206;NT GT ./. 3 49054281 . C . . NT END=49054660;NT GT ./. 3 49054692 rs3087866 T C 128 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.09505,C/0.905;PC=0.021;Gene=DALRD3/NM_001009996.2/1;CC=c.896A>G;ProtCh=p.Q299R;VC=Missense;Gene=DALRD3/NM_001276405.1/0;CC=c.896A>G;ProtCh=p.Q299R;VC=Missense;Gene=DALRD3/NM_018114.5/0;CC=c.395A>G;ProtCh=p.Q132R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:124:92:0:0:47,77:1414,2644:128.00,0.00:72.75,0.00:55.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,4.3:0,0:0,0:77,58:70,88:38,23:NM_001009996.1(DALRD3) c.896A>G (p.Gln299Arg),-:0.88,-:0.798401,- 3 49054790 . C . . NT END=49054866;NT GT ./. 3 49054947 . C . . NT END=49055045;NT GT ./. 3 49055303 . C . . NT END=49055455;NT GT ./. 3 49056541 . t . . NT END=49059577;NT GT ./. 3 49059655 . G . . NT END=49059778;NT GT ./. 3 49059972 . G . . NT END=49060134;NT GT ./. 3 49060202 . G . . NT END=49060308;NT GT ./. 3 49060410 . G . . NT END=49060488;NT GT ./. 3 49060606 . A . . NT END=49061815;NT GT ./. 3 49061781 rs544017988 G GA 7 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.9962,GA/0.003794;NP=9;PC=1.000;Gene=IMPDH2/NM_000884.2/1;CC=c.*34dupT;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:G,GA:37:33:3:0:34,3:1063,98:0.00,6.72:0.00,4.23:0.00,2.48:0.00,0.38:0.00,0.84:0.00,0.55:60,60:16.0,0.0:0,0:0,0:41,14:106,116:21,10:-,NM_000884.2(IMPDH2) c.*34dupT:-,NOT_FOUND:-,NOT_FOUND 3 49061838 . C . . NT END=49061927;NT GT ./. 3 49062012 . C . . NT END=49062091;NT GT ./. 3 49062236 . C . . NT END=49062328;NT GT ./. 3 49062258 rs72624918 G A 180 nt VT=SNV;PN=C;NN=G;SST=Single;DP=121;DB;DBA=NA;PAF=G/0.994,A/0.00599;NP=85;Gene=IMPDH2/NM_000884.2/1;CC=c.1296-23C>T;VC=Intron;DM=IMPDH2/IMPDH;DM=IMPDH2/IMPDH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:121:80:0:0:57,63,1:1892,2000,11:180.30,0.00,-0.12:102.65,0.00,-0.10:77.65,0.00,-0.01:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.1,5.8,148.0:0,0,0:0,0,0:49,65,48:99,83,98:29,33,0:NM_000884.2(IMPDH2) c.1296-23C>T,-:0.01,-:0.011072,- 3 49062474 . C . . NT END=49062558;NT GT ./. 3 49062703 . C . . NT END=49063756;NT GT ./. 3 49063853 . C . . NT END=49063951;NT GT ./. 3 49064043 . C . . NT END=49064119;NT GT ./. 3 49064320 . C . . NT END=49064392;NT GT ./. 3 49064481 . C . . NT END=49065142;NT GT ./. 3 49065350 . C . . NT END=49065680;NT GT ./. 3 49065756 . C . . NT END=49065863;NT GT ./. 3 49065966 . C . . NT END=49066190;NT GT ./. 3 49066240 . C . . NT END=49066685;NT GT ./. 3 49066784 . G . . NT END=49067884;NT GT ./. 3 49067797 rs565387821 GA G 15 rn VT=DEL;SST=Single;DP=38;DB;DBA=NA;PAF=NA;NP=18;PC=0.623;Gene=QRICH1/NM_017730.2/1;CC=c.*87delT;VC=3UTR;Gene=QRICH1/NM_198880.1/0;CC=c.*87delT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:GA,I,G:38:37:2:6:30,2,6:1000,67,190:0.00,4.40,14.82:0.00,4.47,11.03:0.00,-0.07,3.79:0.00,0.00,0.88:0.00,0.00,0.99:0.00,0.00,0.70:60,60,60:15.8,5.5,21.8:0,0,0:0,0,0:41,65,38:109,85,96:31,6,24:-,NM_017730.2(QRICH1) c.*77T[10]:-,NOT_FOUND:-,NOT_FOUND 3 49068078 . C . . NT END=49069615;NT GT ./. 3 49069707 . C . . NT END=49070054;NT GT ./. 3 49070207 . C . . NT END=49070552;NT GT ./. 3 49070499 rs4974081 C T 26 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.09665,T/0.9034;Gene=QRICH1/NM_017730.2/1;CC=c.1895+54G>A;VC=Intron;Gene=QRICH1/NM_198880.1/0;CC=c.1895+54G>A;VC=Intron;DM=QRICH1/DUF3504 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:23:0:0:17,10:561,291:0.00,26.13:0.00,17.69:0.00,8.44:0.00,1.00:0.00,1.00:0.00,0.94:60,60:17.5,43.7:0,0:0,0:53,76:97,70:34,41:-,NM_017730.2(QRICH1) c.1895+54G>A:-,0.88:-,NOT_FOUND 3 49070662 . C . . NT END=49081822;NT GT ./. 3 49081938 . C . . NT END=49083857;NT GT ./. 3 49083695 . TA T 11 rn VT=DEL;SST=Single;DP=11;NP=15;PC=0.153;Gene=QRICH1/NM_017730.2/1;CC=c.1671+162delT;VC=Intron;Gene=QRICH1/NM_198880.1/0;CC=c.1671+162delT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:TA,I,T:11:11:1:4:6,1,4:188,30,124:0.00,2.19,11.37:0.00,2.19,11.37:0.00,0.00,0.00:0.00,0.00,0.82:0.00,0.00,0.82:0.00,0.00,0.00:60,60,60:23.3,31.0,7.2:0,0,0:0,0,0:42,88,23:108,49,127:35,0,12:-,NM_017730.2(QRICH1) c.1671+162delT:-,NOT_FOUND:-,NOT_FOUND 3 49084013 . C . . NT END=49084501;NT GT ./. 3 49084680 . C . . NT END=49094294;NT GT ./. 3 49095324 . C . . NT END=49114141;NT GT ./. 3 49113957 rs572263475 TA T 9 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=286;PC=0.001;Gene=QRICH1/NM_017730.2/1;CC=c.309+184delT;VC=Intron;Gene=QRICH1/NM_198880.1/0;CC=c.309+184delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:TA,T:5:6:0:4:2,3:45,125:0.00,9.14:0.00,9.14:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:11.5,10.7:0,1:0,0:39,39:112,112:4,10:-,NM_017730.2(QRICH1) c.309+184delT:-,NOT_FOUND:-,NOT_FOUND 3 49114472 . C . . NT END=49133461;NT GT ./. 3 49114544 rs7626445 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.249,T/0.751;Gene=QRICH1/NM_017730.2/1;CC=c.-21-73G>A;VC=Intron;Gene=QRICH1/NM_198880.1/0;CC=c.-21-73G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:C,T:13:0:0:0:3,10:91,324:0.00,34.12:0.00,0.00:0.00,34.12:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,34.4:0,0:0,0:90,97:61,52:2,41:-,NM_017730.2(QRICH1) c.-21-73G>A:-,0.72:-,NOT_FOUND 3 49133310 rs9840050 A G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2456,G/0.7544;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:A,G:9:9:0:0:4,5:119,141:0.00,13.80:0.00,13.80:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,66.0:0,0:0,0:83,27:66,124:19,8:-,NM_017730.2(QRICH1) c.-241-u1806T>C:-,0.72:-,NOT_FOUND 3 49133513 . C . . NT END=49135424;NT GT ./. 3 49135551 . C . . NT END=49135624;NT GT ./. 3 49135692 . C . . NT END=49135785;NT GT ./. 3 49135914 . C . . NT END=49136032;NT GT ./. 3 49135961 rs13064784 C G 130 nt VT=SNV;PN=C;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.2516,A/.,G/0.7484;Gene=QARS/NM_001272073.1/0;CC=c.1924-48G>C;VC=Intron;Gene=QARS/NM_005051.2/1;CC=c.1957-48G>C;VC=Intron;Gene=QARS/NR_073590.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:94:56:0:0:52,42:1672,1380:0.00,130.00:0.00,60.57:0.00,69.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.9,38.0:0,0:0,0:82,89:68,62:31,32:-,NM_005051.1(QARS) c.1957-48G>C:-,0.72:-,0.615331 3 49136126 . C . . NT END=49136317;NT GT ./. 3 49136423 . C . . NT END=49136542;NT GT ./. 3 49136687 . C . . NT END=49136776;NT GT ./. 3 49136865 . C . . NT END=49136942;NT GT ./. 3 49137081 . C . . NT END=49137193;NT GT ./. 3 49137287 . C . . NT END=49137393;NT GT ./. 3 49137525 . C . . NT END=49137622;NT GT ./. 3 49137732 . C . . NT END=49137812;NT GT ./. 3 49137892 . C . . NT END=49138007;NT GT ./. 3 49137904 rs4521268 G T 43 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.242,T/0.758;Gene=QARS/NM_001272073.1/0;CC=c.944-13C>A;VC=Intron;Gene=QARS/NM_005051.2/1;CC=c.977-13C>A;VC=Intron;Gene=QARS/NR_073590.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:37:17:0:0:21,16:717,469:0.00,43.50:0.00,8.61:0.00,34.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,36.4:0,0:0,0:93,103:58,37:27,34:-,NM_005051.1(QARS) c.977-13C>A:-,0.73:-,0.634015 3 49138108 . C . . NT END=49138787;NT GT ./. 3 49138875 . C . . NT END=49139052;NT GT ./. 3 49139139 . C . . NT END=49139260;NT GT ./. 3 49139333 . C . . NT END=49139637;NT GT ./. 3 49139699 . C . . NT END=49139851;NT GT ./. 3 49139906 . C . . NT END=49140777;NT GT ./. 3 49139966 rs4513485 G A 73 nt VT=SNV;PN=T;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.2712,A/0.7288;PC=0.001;Gene=QARS/NM_001272073.1/0;CC=c.484-61C>T;VC=Intron;Gene=QARS/NM_005051.2/1;CC=c.517-61C>T;VC=Intron;Gene=QARS/NR_073590.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:35:20:0:0:22,13:726,438:73.08,0.00:22.71,0.00:50.36,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.9,5.3:0,0:0,0:101,116:47,33:16,16:NM_005051.1(QARS) c.517-61C>T,-:0.71,-:0.590232,- 3 49140843 . C . . NT END=49141063;NT GT ./. 3 49140897 . C T 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=53;PC=0.051;Gene=QARS/NM_001272073.1/0;CC=c.419-55G>A;VC=Intron;Gene=QARS/NM_005051.2/1;CC=c.452-55G>A;VC=Intron;Gene=QARS/NR_073590.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:26:0:0:27,26:857,752:0.00,71.59:0.00,37.89:0.00,33.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,34.5:0,0:0,0:111,70:40,81:30,36:-,NM_005051.1(QARS) c.452-55G>A:-,NOT_FOUND:-,NOT_FOUND 3 49141140 . C . . NT END=49141295;NT GT ./. 3 49141406 . C . . NT END=49141756;NT GT ./. 3 49141905 . C . . NT END=49142049;NT GT ./. 3 49142163 . C T 67 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=59;PC=1.000;Gene=QARS/NM_001272073.1/0;CC=c.4G>A;ProtCh=p.A2T;VC=Missense;Gene=QARS/NM_005051.2/1;CC=c.4G>A;ProtCh=p.A2T;VC=Missense;Gene=QARS/NR_073590.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:21:0:0:34,25:1103,730:0.00,67.40:0.00,12.55:0.00,54.85:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.0,32.3:0,0:0,0:110,115:33,36:27,30:-,NM_005051.1(QARS) c.4G>A (p.Ala2Thr):-,NOT_FOUND:-,NOT_FOUND 3 49142167 . T . . NT END=49145844;NT GT ./. 3 49145741 rs3212 T C 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.24,C/0.76;Gene=USP19/NM_001199161.1/1;CC=c.*104A>G;VC=3UTR;Gene=USP19/NM_001199162.1/0;CC=c.*104A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:185:C,T:13:13:0:0:7,6:189,179:18.29,0.00:18.29,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:41.0,18.8:0,0:0,0:42,51:109,100:28,32:NM_005051.1(QARS) c.-5-u3570A>G,-:0.73,-:NOT_FOUND,- 3 49145962 . C . . NT END=49146104;NT GT ./. 3 49146619 . C . . NT END=49147615;NT GT ./. 3 49146656 rs113592495 T G 89 nt VT=SNV;PN=G;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.9505,G/0.04952;Gene=USP19/NM_001199161.1/1;CC=c.4039-695A>C;VC=Intron;Gene=USP19/NM_001199162.1/0;CC=c.4003-695A>C;VC=Intron;Gene=USP19/NM_001199160.1/0;CC=c.4033-38A>C;VC=Intron;Gene=USP19/NM_006677.2/0;CC=c.3730-38A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T,D:68:32:0:3:1,30,36,1:5,946,1136,14:-0.20,89.14,0.00,0.08:-0.09,20.11,0.00,0.23:-0.12,69.03,0.00,-0.15:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:113.0,57.0,6.6,76.0:0,0,0,0:0,0,0,0:46,109,86,126:104,31,60,25:0,22,34,0:NM_001199160.1(USP19) c.4033-38A>C,-:0.07,-:0.035021,- 3 49147796 . C . . NT END=49147875;NT GT ./. 3 49148038 . C . . NT END=49148142;NT GT ./. 3 49148297 . C . . NT END=49148381;NT GT ./. 3 49148600 . C . . NT END=49148686;NT GT ./. 3 49148799 . C . . NT END=49148931;NT GT ./. 3 49148890 rs4292260 T C 116 nt VT=SNV;PN=C;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=T/0.1625,C/0.8375;Gene=USP19/NM_001199161.1/1;CC=c.3217+43A>G;VC=Intron;Gene=USP19/NM_001199162.1/0;CC=c.3181+43A>G;VC=Intron;Gene=USP19/NM_001199160.1/0;CC=c.3211+43A>G;VC=Intron;Gene=USP19/NM_006677.2/0;CC=c.2908+43A>G;VC=Intron;DM=USP19/UCH;DM=USP19/UCH;DM=USP19/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:98:62:0:0:39,59:1264,1856:116.43,0.00:66.05,0.00:50.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,10.0:0,0:0,0:80,64:68,86:32,43:NM_001199160.1(USP19) c.3211+43A>G,-:0.82,-:0.743728,- 3 49149247 . C . . NT END=49149342;NT GT ./. 3 49149482 . C . . NT END=49149715;NT GT ./. 3 49149836 . C . . NT END=49149920;NT GT ./. 3 49150063 . C . . NT END=49151423;NT GT ./. 3 49151527 . C . . NT END=49151605;NT GT ./. 3 49151718 . C . . NT END=49152194;NT GT ./. 3 49152307 . C . . NT END=49152390;NT GT ./. 3 49152551 . C . . NT END=49152659;NT GT ./. 3 49152795 . C . . NT END=49152875;NT GT ./. 3 49153073 . C . . NT END=49153155;NT GT ./. 3 49153378 . C . . NT END=49153478;NT GT ./. 3 49153596 . C . . NT END=49153711;NT GT ./. 3 49153785 . C . . NT END=49153882;NT GT ./. 3 49154041 . C . . NT END=49154152;NT GT ./. 3 49154377 . C . . NT END=49154490;NT GT ./. 3 49154795 . C . . NT END=49154868;NT GT ./. 3 49155004 . C . . NT END=49155088;NT GT ./. 3 49155264 . C . . NT END=49155378;NT GT ./. 3 49155461 . c . . NT END=49156453;NT GT ./. 3 49156579 . C . . NT END=49158658;NT GT ./. 3 49156676 rs4279134 A G 119 nt VT=SNV;PN=A;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.247,G/0.753;PC=1.000;Gene=USP19/NM_001199161.1/1;CC=c.-98T>C;VC=5UTR;Gene=USP19/NM_001199162.1/0;CC=c.-98T>C;VC=5UTR;Gene=USP19/NM_001199160.1/0;CC=c.-98T>C;VC=5UTR;Gene=USP19/NM_006677.2/0;CC=c.-98T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:75:25:0:0:38,37:1172,1236:0.00,118.64:0.00,20.55:0.00,98.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,42.1:0,0:0,0:100,115:48,34:29,22:-,NM_001199160.1(USP19) c.-98T>C:-,0.73:-,NOT_FOUND 3 49158796 . C . . NT END=49158865;NT GT ./. 3 49159026 . C . . NT END=49159116;NT GT ./. 3 49159294 . C . . NT END=49159376;NT GT ./. 3 49159519 . C . . NT END=49159595;NT GT ./. 3 49159804 . C . . NT END=49160136;NT GT ./. 3 49160486 . C . . NT END=49160564;NT GT ./. 3 49160807 . C . . NT END=49160879;NT GT ./. 3 49161065 . C . . NT END=49161160;NT GT ./. 3 49161534 . C . . NT END=49161622;NT GT ./. 3 49161720 . C . . NT END=49161827;NT GT ./. 3 49162046 . C . . NT END=49162133;NT GT ./. 3 49162359 . C . . NT END=49162438;NT GT ./. 3 49162603 . C . . NT END=49162685;NT GT ./. 3 49162918 . C . . NT END=49163179;NT GT ./. 3 49162976 . T G 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;PC=0.014;Gene=LAMB2/NM_002292.3/1;CC=c.2489-59A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:35:G,T:48:15:0:0:8,40:120,971:6.58,0.00:0.75,0.00:5.83,0.00:0.96,0.00:0.88,0.00:1.00,0.00:60,60:132.4,29.4:0,0:0,0:96,104:49,45:16,31:NM_002292.3(LAMB2) c.2489-59A>C,-:NOT_FOUND,-:NOT_FOUND,- 3 49163324 . C . . NT END=49163399;NT GT ./. 3 49163593 . C . . NT END=49163797;NT GT ./. 3 49163931 . C . . NT END=49165890;NT GT ./. 3 49166019 . C . . NT END=49166093;NT GT ./. 3 49166069 rs9865051 C T 204 nt VT=SNV;PN=C;NN=C;SST=Single;DP=116;DB;DBA=NA;PAF=C/0.09665,T/0.9034;PC=0.002;Gene=LAMB2/NM_002292.3/1;CC=c.1890+25G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:116:77:0:0:52,64:1544,2081:0.00,204.00:0.00,105.40:0.00,98.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,36.2:0,0:0,0:81,77:68,72:37,43:-,NM_002292.3(LAMB2) c.1890+25G>A:-,0.88:-,0.804167 3 49166253 . C . . NT END=49166452;NT GT ./. 3 49166586 . C . . NT END=49166677;NT GT ./. 3 49166758 . C . . NT END=49167036;NT GT ./. 3 49167150 . C . . NT END=49167271;NT GT ./. 3 49167452 . C . . NT END=49167663;NT GT ./. 3 49167853 . C . . NT END=49168172;NT GT ./. 3 49168294 . C . . NT END=49168382;NT GT ./. 3 49168586 . C . . NT END=49168811;NT GT ./. 3 49168876 . C . . NT END=49168967;NT GT ./. 3 49169157 . C . . NT END=49169548;NT GT ./. 3 49169623 . C . . NT END=49169702;NT GT ./. 3 49169839 . C . . NT END=49169923;NT GT ./. 3 49170064 rs144765752 G C 154 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=G/0.9984,C/0.001597;NP=18;PC=0.229;Gene=LAMB2/NM_002292.3/1;CC=c.109C>G;ProtCh=p.P37A;VC=Missense;DM=LAMB2/Laminin_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:125:75:0:0:53,72:1655,2235:153.72,0.00:66.40,0.00:87.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.5,15.2:0,0:0,0:111,71:39,74:27,33:NM_002292.3(LAMB2) c.109C>G (p.Pro37Ala),-:0.0023,-:0.002922,- 3 49170097 . C . . NT END=49170224;NT GT ./. 3 49170301 . C . . NT END=49200237;NT GT ./. 3 49200627 rs4955418 A G 409 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=266;DB;DBA=NA;PAF=A/0.256,C/.,G/0.744;Gene=CCDC71/NM_022903.3/1;CC=c.1015T>C;ProtCh=p.W339R;VC=Missense;DM=CCDC71/CCDC71L GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:266:174:0:0:128,138:4063,4235:0.00,408.92:0.00,197.38:0.00,211.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,59.9:0,0:0,0:72,59:71,87:35,31:-,NM_022903.3(CCDC71) c.1015T>C (p.Trp339Arg):-,0.71:-,0.596186 3 49200692 rs4955419 T A 363 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=256;DB;DBA=NA;PAF=T/0.2891,A/0.7109;Gene=CCDC71/NM_022903.3/1;CC=c.950A>T;ProtCh=p.Q317L;VC=Missense;DM=CCDC71/CCDC71L GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:256:155:0:0:117,2,1,136:3833,19,14,4464:363.23,-0.26,-0.13,0.00:159.49,-0.02,-0.05,0.00:203.74,-0.24,-0.07,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:62.5,63.0,113.0,12.1:0,0,0,0:0,0,0,0:88,116,5,76:58,34,144,67:31,34,0,32:NM_022903.3(CCDC71) c.950A>T (p.Gln317Leu),-:0.69,-:0.565278,- 3 49201642 . G . . NT END=49210202;NT GT ./. 3 49210579 . G . . NT END=49211671;NT GT ./. 3 49210732 rs7617480 A C 63 nt VT=SNV;PN=G;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1739,C/0.8261;PC=0.038;Gene=KLHDC8B/NM_173546.2/1;CC=c.376+154A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:32:0:0:0:13,19:376,632:0.00,62.94:0.00,0.00:0.00,62.94:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.0,46.2:0,0:0,0:124,119:27,32:8,28:-,NM_173546.2(KLHDC8B) c.376+154A>C:-,0.82:-,NOT_FOUND 3 49211837 . G . . NT END=49212153;NT GT ./. 3 49211989 rs10865954 T C 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.2784,C/0.7216;Gene=KLHDC8B/NM_173546.2/1;CC=c.541+153T>C;VC=Intron;DM=KLHDC8B/Kelch_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:19:0:0:16,13:491,404:48.07,0.00:33.02,0.00:15.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.3,11.3:0,0:0,0:57,84:94,67:38,43:NM_173546.2(KLHDC8B) c.541+153T>C,-:0.7,-:NOT_FOUND,- 3 49212400 . G . . NT END=49212494;NT GT ./. 3 49212597 . G . . NT END=49213037;NT GT ./. 3 49213235 . A . . NT END=49215068;NT GT ./. 3 49215486 . C . . NT END=49215914;NT GT ./. 3 49215972 . C . . NT END=49227457;NT GT ./. 3 49227572 . C . . NT END=49229177;NT GT ./. 3 49228946 rs11130183 A G 12 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.1965,G/0.8035;PC=0.001;Gene=C3orf84/NM_001080528.2/1;CC=c.27+232T>C;VC=Intron;DM=C3orf84/HDNR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:7:7:0:0:2,5:65,119:0.00,12.41:0.00,12.41:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,68.6:0,0:0,0:11,51:139,99:5,29:-,NM_001080528.2(LOC646498) c.27+232T>C:-,0.79:-,NOT_FOUND 3 49229205 . C . . NT END=49237992;NT GT ./. 3 49237908 . AAAAG A 24 idl,rn VT=DEL;SST=Single;DP=37;NP=1;PC=0.005;Gene=CCDC36/NM_178173.3/1;CC=c.-16+1408_-16+1411delGAAA;VC=Intron;Gene=CCDC36/NM_001135197.1/0;CC=c.-16+942_-16+945delGAAA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:AAAAG,G,I,A:33:37:9:16:14,2,6,11:418,66,273,297:0.00,4.69,15.35,23.74:0.00,4.76,15.63,19.38:0.00,-0.07,-0.28,4.37:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.96:60,60,60,60:42.0,48.5,30.0,10.2:2,0,3,1:0,0,0,0:79,3,35,34:71,147,109,117:62,1,10,18:-,NM_178173.3(CCDC36) c.-16+1369_-16+1372delAAAG:-,NOT_FOUND:-,NOT_FOUND 3 49237912 rs562270297 G A 8 idl;end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.9445,A/0.05551;NP=4;PC=0.005;Gene=CCDC36/NM_178173.3/1;CC=c.-16+1372G>A;VC=Intron;Gene=CCDC36/NM_001135197.1/0;CC=c.-16+906G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:57:A,G:26:25:0:20:4,22:105,684:7.61,0.00:7.25,0.00:0.35,0.00:0.67,0.00:0.95,0.00:0.69,0.00:60,60:63.2,20.7:0,1:0,0:8,45:143,105:3,38:NM_178173.3(CCDC36) c.-16+1372G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 49237998 . G . . NT END=49249198;NT GT ./. 3 49249270 . G . . NT END=49273980;NT GT ./. 3 49273996 rs12631989 C T 61 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.2945,T/0.7055;PC=0.648;Gene=CCDC36/NM_178173.3/1;CC=c.72C>T;ProtCh=p.S24=;VC=Silent;Gene=CCDC36/NM_001135197.1/0;CC=c.72C>T;ProtCh=p.S24=;VC=Silent;DM=CCDC36/DUF4700 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:37:0:0:25,20:791,653:0.00,61.42:0.00,45.70:0.00,15.72:0.00,1.00:0.00,1.00:0.00,0.99:60,60:7.1,46.1:0,0:0,0:59,59:92,91:18,38:-,NM_178173.3(CCDC36) c.72C>T (p.(=)):-,0.68:-,0.560203 3 49274156 . G . . NT END=49278658;NT GT ./. 3 49278823 . G . . NT END=49281836;NT GT ./. 3 49278971 rs142564164 TAC T 7 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=3;Gene=CCDC36/NM_178173.3/1;CC=c.395+171_395+172delCA;VC=Intron;Gene=CCDC36/NM_001135197.1/0;CC=c.395+171_395+172delCA;VC=Intron;DM=CCDC36/DUF4700;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:A,TAC,T:10:2:0:4:1,6,3:10,147,115:0.28,0.00,7.02:-0.04,0.00,-1.79:0.32,0.00,8.82:0.00,0.00,0.60:0.00,0.00,0.56:0.00,0.00,0.93:60,60,60:10.0,41.8,6.7:0,0,1:0,0,0:23,107,111:128,43,39:0,34,7:-,NM_178173.3(CCDC36) c.395+150_395+151delAC:-,NOT_FOUND:-,NOT_FOUND 3 49281886 . G . . NT END=49282078;NT GT ./. 3 49282167 . G . . NT END=49292822;NT GT ./. 3 49292495 . C CA 6 rn VT=INS;SST=Single;DP=4;PC=0.003;Gene=CCDC36/NM_178173.3/1;CC=c.533-315_533-314insA;VC=Intron;Gene=CCDC36/NM_001135197.1/0;CC=c.533-315_533-314insA;VC=Intron;DM=CCDC36/DUF4700;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:C,CA,D:4:4:2:1:1,2,1:35,64,32:0.00,6.45,2.95:0.00,6.45,2.95:0.00,0.00,0.00:0.00,0.51,0.00:0.00,0.51,0.00:0.00,0.00,0.00:60,60,60:11.0,5.5,0.0:0,0,0:0,0,0:45,52,22:106,98,129:0,49,0:-,NM_178173.3(CCDC36) c.533-328_533-327insA:-,NOT_FOUND:-,NOT_FOUND 3 49292927 . G . . NT END=49293566;NT GT ./. 3 49292991 rs397989536 CT C 13 idl,rn VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=CT/0.4225,C/0.5775;DB;DBA=NA;PAF=NA;NP=4;PC=0.002;Gene=CCDC36/NM_178173.3/1;CC=c.636+86delT;VC=Intron;Gene=CCDC36/NM_001135197.1/0;CC=c.636+86delT;VC=Intron;DM=CCDC36/DUF4700;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:CT,I,C:16:1:3:6:8,3,5:242,95,179:0.00,8.00,13.22:0.00,-0.08,-0.15:0.00,8.08,13.37:0.00,0.00,0.88:0.00,0.00,0.53:0.00,0.00,0.99:60,60,60:24.9,4.0,30.8:0,0,1:0,0,0:133,87,58:18,64,93:14,23,18:-,NM_178173.3(CCDC36) c.636+66delT:-,NOT_FOUND:-,NOT_FOUND 3 49293510 rs77548156 T C 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.9934,C/0.006589;Gene=CCDC36/NM_178173.3/1;CC=c.637-57T>C;VC=Intron;Gene=CCDC36/NM_001135197.1/0;CC=c.637-57T>C;VC=Intron;DM=CCDC36/DUF4700 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:42:0:0:20,23:650,750:61.62,0.00:58.79,0.00:2.83,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:43.3,9.4:0,0:0,0:54,31:96,117:43,17:NM_178173.3(CCDC36) c.637-57T>C,-:0.01,-:NOT_FOUND,- 3 49294716 . C . . NT END=49308611;NT GT ./. 3 49308879 . C . . NT END=49311480;NT GT ./. 3 49311574 . C . . NT END=49313858;NT GT ./. 3 49314509 . A . . NT END=49314571;NT GT ./. 3 49314662 . G . . NT END=49315725;NT GT ./. 3 49315575 rs544638238 CT C 20 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1104;PC=1.000;Gene=USP4/NM_003363.3/1;CC=c.*150delA;VC=3UTR;Gene=USP4/NM_199443.2/0;CC=c.*150delA;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:19:20:0:8:12,7:367,253:0.00,20.01:0.00,20.01:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:43.0,44.3:0,1:0,0:74,25:75,126:31,15:-,NM_003363.3(USP4) c.*138A[12]:-,NOT_FOUND:-,NOT_FOUND 3 49315885 . C . . NT END=49316246;NT GT ./. 3 49316336 . C . . NT END=49318176;NT GT ./. 3 49317992 rs371988656 CA C 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=USP4/NM_003363.3/1;CC=c.2644+184delT;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.2503+184delT;VC=Intron;DM=USP4/UCH;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:CA,I,C:4:5:1:3:1,1,2:33,33,89:0.00,2.98,6.34:0.00,2.98,6.34:0.00,0.00,0.00:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.00:60,60,60:0.0,0.0,67.5:0,0,1:0,0,0:3,13,45:148,138,72:0,0,40:-,NM_003363.3(USP4) c.2644+184delT:-,NOT_FOUND:-,NOT_FOUND 3 49318281 . C . . NT END=49321419;NT GT ./. 3 49321570 . C . . NT END=49321898;NT GT ./. 3 49322018 . C . . NT END=49322281;NT GT ./. 3 49322027 rs2304442 T A 85 nt VT=SNV;PN=A;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.857,A/0.143;PC=0.001;Gene=USP4/NM_003363.3/1;CC=c.2272-10A>T;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.2131-10A>T;VC=Intron;DM=USP4/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:50:25:0:0:27,23:870,700:84.93,0.00:29.48,0.00:55.45,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,14.0:0,0:0,0:98,99:52,41:26,25:NM_003363.3(USP4) c.2272-10A>T,-:0.16,-:0.196294,- 3 49322353 . C . . NT END=49323530;NT GT ./. 3 49323759 . C . . NT END=49329942;NT GT ./. 3 49330032 . C . . NT END=49331839;NT GT ./. 3 49332032 . C . . NT END=49335302;NT GT ./. 3 49335398 . C . . NT END=49335984;NT GT ./. 3 49335745 rs35220094 C T 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.9601,T/0.03994;PC=0.013;Gene=USP4/NM_003363.3/1;CC=c.1596+240G>A;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.1455+240G>A;VC=Intron;DM=USP4/UCH;DM=USP4/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:4:0:0:2,2:66,71:0.00,6.85:0.00,6.85:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,35.5:0,0:0,0:69,67:79,83:15,27:-,NM_003363.3(USP4) c.1596+240G>A:-,0.06:-,NOT_FOUND 3 49336069 . C . . NT END=49337899;NT GT ./. 3 49337676 . CA C 10 rn VT=DEL;SST=Single;DP=6;NP=8;PC=0.016;Gene=USP4/NM_003363.3/1;CC=c.1512+223delT;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.1371+223delT;VC=Intron;DM=USP4/UCH;DM=USP4/UCH;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:CA,I,C:5:6:2:3:1,1,3:34,58,94:0.00,2.62,9.63:0.00,2.62,9.63:0.00,0.00,0.00:0.00,0.00,0.73:0.00,0.00,0.73:0.00,0.00,0.00:60,60,60:0.0,58.0,16.3:0,1,0:0,0,0:13,92,9:138,59,141:0,2,5:-,NM_003363.3(USP4) c.1512+223delT:-,NOT_FOUND:-,NOT_FOUND 3 49338125 . C . . NT END=49339816;NT GT ./. 3 49339622 . TAA T 8 idl,rn VT=DEL;SST=Single;DP=12;PC=0.170;Gene=USP4/NM_003363.3/1;CC=c.1287+193_1287+194delTT;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.1146+193_1146+194delTT;VC=Intron;DM=USP4/UCH;DM=USP4/UCH;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:TAA,I,T:8:11:2:6:4,1,3:109,65,180:0.00,2.55,7.73:0.00,2.58,7.85:0.00,-0.04,-0.13:0.00,0.00,0.59:0.00,0.00,0.93:0.00,0.00,0.50:60,60,60:28.8,11.0,57.0:0,1,3:0,0,0:5,33,52:145,116,97:5,13,24:-,NM_003363.3(USP4) c.1287+193_1287+194delTT:-,NOT_FOUND:-,NOT_FOUND 3 49339976 . C . . NT END=49343147;NT GT ./. 3 49343175 rs2230929 G A 134 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=G/0.9083,A/0.09165,C/.,T/.;Gene=USP4/NM_003363.3/1;CC=c.1101C>T;ProtCh=p.D367=;VC=Silent;Gene=USP4/NM_199443.2/0;CC=c.960C>T;ProtCh=p.D320=;VC=Silent;DM=USP4/UCH;DM=USP4/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:105:88:0:0:44,1,60:1442,12,1867:134.47,-0.10,0.00:92.87,-0.16,0.00:41.60,0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.4,138.0,10.3:0,0,0:0,0,0:64,24,55:81,126,92:23,0,21:NM_003363.3(USP4) c.1101C>T (p.(=)),-:0.13,-:0.147394,- 3 49343322 . C . . NT END=49348052;NT GT ./. 3 49348171 . C . . NT END=49348946;NT GT ./. 3 49349088 . C . . NT END=49349217;NT GT ./. 3 49349354 . c . . NT END=49355741;NT GT ./. 3 49349482 rs116608907 C T 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.981,T/0.01897;Gene=USP4/NM_003363.3/1;CC=c.696-395G>A;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.696-1312G>A;VC=Intron;Gene=USP4/NM_001251877.1/0;CC=c.*318G>A;VC=3UTR;DM=USP4/UCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:0:0:0:8,14:234,429:0.00,43.26:0.00,0.00:0.00,43.26:0.00,1.00:0.00,0.00:0.00,1.00:60,60:59.0,38.8:0,0:0,0:113,88:34,62:11,32:-,NM_003363.3(USP4) c.696-395G>A:-,0.03:-,NOT_FOUND 3 49354975 rs71077785 GT G 8 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GT/0.2117,G/0.7883;DB;DBA=NA;PAF=GT/0.2117,G/0.7883;DB;DBA=NA;PAF=GT/0.2117,G/0.7883;NP=104;PC=0.108;Gene=USP4/NM_003363.3/1;CC=c.696-5889delA;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.696-6806delA;VC=Intron;Gene=USP4/NM_001251877.1/0;CC=c.696-4930delA;VC=Intron;DM=USP4/UCH;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GT,I,G:6:0:1:3:2,1,3:57,31,79:0.00,2.64,7.82:0.00,0.00,0.00:0.00,2.64,7.82:0.00,0.00,0.73:0.00,0.00,0.00:0.00,0.00,0.73:60,60,70:7.0,85.0,77.0:0,0,0:0,0,0:71,86,79:79,64,72:64,0,4:-,NM_003363.3(USP4) c.696-5889delA:-,NOT_FOUND:-,NOT_FOUND 3 49356081 . c . . NT END=49362134;NT GT ./. 3 49362197 . C . . NT END=49362326;NT GT ./. 3 49362369 rs56038006 C T 141 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.9079,T/0.09205;PC=0.992;Gene=USP4/NM_003363.3/1;CC=c.591G>A;ProtCh=p.K197=;VC=Silent;Gene=USP4/NM_199443.2/0;CC=c.591G>A;ProtCh=p.K197=;VC=Silent;Gene=USP4/NM_001251877.1/0;CC=c.591G>A;ProtCh=p.K197=;VC=Silent;DM=USP4/UCH;DM=USP4/Ubiquitin_3;DM=USP4/Ubiquitin_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:105:71:0:0:58,47:1969,1504:0.00,141.47:0.00,62.26:0.00,79.21:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,36.3:0,0:0,0:93,74:57,65:30,37:-,NM_003363.3(USP4) c.591G>A (p.(=)):-,0.13:-,0.147394 3 49362473 . C . . NT END=49363151;NT GT ./. 3 49363279 . C . . NT END=49365118;NT GT ./. 3 49365250 . C . . NT END=49372901;NT GT ./. 3 49373030 . C . . NT END=49377356;NT GT ./. 3 49373045 rs34514189 A G 51 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.9089,G/0.09105;PC=0.852;Gene=USP4/NM_003363.3/1;CC=c.102-16T>C;VC=Intron;Gene=USP4/NM_199443.2/0;CC=c.102-16T>C;VC=Intron;Gene=USP4/NM_001251877.1/0;CC=c.102-16T>C;VC=Intron;DM=USP4/DUSP;DM=USP4/DUSP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:17:0:0:33,17:1077,569:0.00,51.09:0.00,12.91:0.00,38.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.5,40.1:0,0:0,0:90,104:61,44:35,16:-,NM_003363.3(USP4) c.102-16T>C:-,0.13:-,0.147394 3 49377458 . C . . NT END=49394820;NT GT ./. 3 49394834 rs1050450 G A 155 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=107;DB;DBA=in-clinvar;PAF=G/0.7825,A/0.2175;PC=0.027;Gene=GPX1/NM_000581.2/1;CC=c.599C>T;ProtCh=p.P200L;VC=Missense;Gene=GPX1/NM_201397.1/0;CC=c.*581C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:107:84:0:0:51,56:1632,1754:155.34,0.00:97.83,0.00:57.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,11.2:0,0:0,0:63,73:86,73:31,35:NM_000581.2(GPX1) c.599C>T (p.Pro200Leu),-:0.25,-:0.287437,- 3 49395673 rs71077799 GGCC G 274 rn VT=DEL;SST=Single;DP=247;DB;DBA=NA;PAF=GGCC/0.2362,G/0.7638;DB;DBA=NA;PAF=GGCC/0.2362,G/0.7638;NP=22;Gene=GPX1/NM_000581.2/1;CC=c.36_38delGGC;ProtCh=p.A13del;VC=InFrameDel;Gene=GPX1/NM_201397.1/0;CC=c.36_38delGGC;ProtCh=p.A13del;VC=InFrameDel;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,GGCC,T,G:244:149:0:105:3,141,1,99:24,4191,9,3071:-0.51,0.00,-0.21,273.92:-0.25,0.00,-0.07,120.60:-0.26,0.00,-0.14,153.31:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:70.0,12.7,41.0,24.8:0,0,0,3:0,0,0,0:139,102,99,66:11,47,52,75:2,29,0,29:-,NM_000581.2(GPX1) c.21GGC[5] (p.Ala7[6]):-,NOT_FOUND:-,NOT_FOUND 3 49395712 . G . . NT END=49397641;NT GT ./. 3 49395757 rs1800668 G A 231 nt VT=SNV;PN=T;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.7989,A/0.2011;Gene=GPX1/NM_000581.2/1;CC=c.-46C>T;VC=5UTR;Gene=GPX1/NM_201397.1/0;CC=c.-46C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:149:68:0:0:76,73:2397,2439:231.01,0.00:68.40,0.00:162.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,5.6:0,0:0,0:99,94:37,53:29,29:NM_000581.2(GPX1) c.-46C>T,-:0.24,-:NOT_FOUND,- 3 49397816 . C . . NT END=49399928;NT GT ./. 3 49400060 . C . . NT END=49405860;NT GT ./. 3 49405982 . C . . NT END=49412866;NT GT ./. 3 49406140 rs374609508 CT C 11 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=CT/0.6452,C/0.3548;NP=2;PC=0.934;Gene=RHOA/NM_001313941/0;CC=c.157-160delA;VC=Intron;Gene=RHOA/NM_001313943/0;CC=c.157-160delA;VC=Intron;Gene=RHOA/NM_001313944/0;CC=c.130-193delA;VC=Intron;Gene=RHOA/NM_001313945/0;CC=c.-87-160delA;VC=Intron;Gene=RHOA/NM_001313946/0;CC=c.156+6726delA;VC=Intron;Gene=RHOA/NM_001313947/0;CC=c.157-6082delA;VC=Intron;Gene=RHOA/NM_001664.2/1;CC=c.157-160delA;VC=Intron;DM=RHOA/Ras;DM=RHOA/Ras;DM=RHOA/Ras;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:CT,C:19:0:0:9:15,4:407,248:0.00,10.93:0.00,0.00:0.00,10.93:0.00,0.69:0.00,0.00:0.00,0.69:60,60:15.3,22.0:0,4:0,0:126,98:25,53:20,23:-,NM_001664.2(RHOA) c.157-160delA:-,NOT_FOUND:-,NOT_FOUND 3 49412693 . CA C 8 rn VT=DEL;SST=Single;DP=12;NP=6;PC=0.148;Gene=RHOA/NM_001313941/0;CC=c.156+173delT;VC=Intron;Gene=RHOA/NM_001313943/0;CC=c.156+173delT;VC=Intron;Gene=RHOA/NM_001313944/0;CC=c.129+200delT;VC=Intron;Gene=RHOA/NM_001313945/0;CC=c.-88+173delT;VC=Intron;Gene=RHOA/NM_001313946/0;CC=c.156+173delT;VC=Intron;Gene=RHOA/NM_001313947/0;CC=c.156+173delT;VC=Intron;Gene=RHOA/NM_001664.2/1;CC=c.156+173delT;VC=Intron;DM=RHOA/Ras;DM=RHOA/Ras;DM=RHOA/Ras;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:74:CA,I,C:12:12:1:3:8,1,3:239,31,98:0.00,2.20,8.43:0.00,2.20,8.43:0.00,0.00,0.00:0.00,0.00,0.59:0.00,0.00,0.59:0.00,0.00,0.00:60,60,60:11.9,0.0,0.0:0,0,0:0,0,0:45,6,82:104,145,69:25,0,41:-,NM_001664.2(RHOA) c.156+173delT:-,NOT_FOUND:-,NOT_FOUND 3 49413024 . G . . NT END=49449859;NT GT ./. 3 49431105 . CTCTCTGTGTGTGTGTG T,C 7 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;PC=0.035 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:47:CTCTCTGTGTGTGTGTG,T,C:5:1:0:2:1,2,2:19,66,66:0.00,6.54,6.54:0.00,0.00,3.28:0.00,6.54,3.26:0.00,0.46,0.00:0.00,0.60,0.00:0.00,0.87,0.00:60,60,60:127.0,13.5,79.5:1,2,0:0,0,0:86,93,58:64,50,92:0,1,11:NM_001664.2(RHOA) c.-2-18097_-2-18081delCACACACACACAGAGAGinsA,NM_001664.2(RHOA) c.-2-18097_-2-18082delCACACACACACAGAGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 49431160 rs7650253 T A 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3982,A/0.6018;NP=4;Gene=RHOA/NM_001313941/0;CC=c.-3+12985A>T;VC=Intron;Gene=RHOA/NM_001313943/0;CC=c.-3+18093A>T;VC=Intron;Gene=RHOA/NM_001313944/0;CC=c.-3+18093A>T;VC=Intron;Gene=RHOA/NM_001313945/0;CC=c.-148+18118A>T;VC=Intron;Gene=RHOA/NM_001313946/0;CC=c.-3+18093A>T;VC=Intron;Gene=RHOA/NM_001313947/0;CC=c.-3+18093A>T;VC=Intron;Gene=RHOA/NM_001664.2/1;CC=c.-3+18093A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:A,T:4:1:0:0:2,2:71,65:6.85,0.00:1.89,0.00:4.96,0.00:0.51,0.00:0.67,0.00:0.51,0.00:60,60:71.0,68.5:0,0:0,0:65,144:85,6:42,3:NM_001664.2(RHOA) c.-3+18093A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 49431162 rs7650254 T A 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.1036,A/0.8964;Gene=RHOA/NM_001313941/0;CC=c.-3+12983A>T;VC=Intron;Gene=RHOA/NM_001313943/0;CC=c.-3+18091A>T;VC=Intron;Gene=RHOA/NM_001313944/0;CC=c.-3+18091A>T;VC=Intron;Gene=RHOA/NM_001313945/0;CC=c.-148+18116A>T;VC=Intron;Gene=RHOA/NM_001313946/0;CC=c.-3+18091A>T;VC=Intron;Gene=RHOA/NM_001313947/0;CC=c.-3+18091A>T;VC=Intron;Gene=RHOA/NM_001664.2/1;CC=c.-3+18091A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,T:5:1:0:0:3,2:94,64:9.37,0.00:1.93,0.00:7.44,0.00:0.78,0.00:0.73,0.00:0.78,0.00:60,60:55.0,68.5:0,0:0,0:25,146:126,4:24,3:NM_001664.2(RHOA) c.-3+18091A>T,-:0.71,-:NOT_FOUND,- 3 49449638 rs940045 G A 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1973,A/0.8027;PC=0.847;Gene=TCTA/NM_022171.2/1;CC=c.-221-1G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:17:0:0:8,10:230,320:21.42,0.00:21.68,0.00:-0.26,0.00:0.99,0.00:1.00,0.00:0.63,0.00:60,60:53.2,33.2:0,0:0,0:56,61:95,90:40,33:NM_001664.2(RHOA) c.-276-u112C>T,-:0.8,-:NOT_FOUND,- 3 49450074 . G . . NT END=49450488;NT GT ./. 3 49450449 rs6779524 C T 100 nt VT=SNV;PN=A;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.7821,T/0.2179;Gene=TCTA/NM_022171.2/1;CC=c.215-40C>T;VC=Intron;DM=TCTA/T_cell_tran_alt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:58:52:0:0:27,31:851,1023:0.00,99.73:0.00,63.69:0.00,36.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,43.1:0,0:0,0:60,52:85,92:39,21:-,NM_022171.2(TCTA) c.215-40C>T:-,0.25:-,0.307473 3 49450544 . G . . NT END=49452252;NT GT ./. 3 49450817 rs1522929 T C 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.03375,C/0.9663;Gene=TCTA/NM_022171.2/1;CC=c.269+274T>C;VC=Intron;DM=TCTA/T_cell_tran_alt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:82:9.94:0.00:9.94:1.00:0.00:1.00:60:71.0:0:0:98:52:9:NM_022171.2(TCTA) c.269+274T>C,NM_022171.2(TCTA) c.269+274T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 49452296 . G . . NT END=49454776;NT GT ./. 3 49455152 . C . . NT END=49455250;NT GT ./. 3 49455330 rs11715915 C T 233 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=145;DB;DBA=NA;PAF=C/0.7987,A/.,T/0.2013;PC=1.000;Gene=AMT/NM_000481.3/1;CC=c.954G>A;ProtCh=p.R318=;VC=Silent;Gene=AMT/NM_001164710.1/0;CC=c.822G>A;ProtCh=p.R274=;VC=Silent;Gene=AMT/NM_001164711.1/0;CC=c.786G>A;ProtCh=p.R262=;VC=Silent;Gene=AMT/NM_001164712.1/0;CC=c.954G>A;ProtCh=p.R318=;VC=Silent;Gene=AMT/NR_028435.1/0;VC=NonCoding;DM=AMT/GCV_T_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:145:77:0:0:71,74:2321,2411:0.00,232.75:0.00,95.20:0.00,137.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,38.7:0,0:0,0:90,84:60,60:37,32:-,NM_000481.3(AMT) c.954G>A (p.(=)):-,0.23:-,0.288944 3 49455407 . C . . NT END=49456403;NT GT ./. 3 49456585 . C . . NT END=49456692;NT GT ./. 3 49456839 . C . . NT END=49457142;NT GT ./. 3 49457222 . C . . NT END=49457643;NT GT ./. 3 49457776 . C . . NT END=49458924;NT GT ./. 3 49459006 . C . . NT END=49459536;NT GT ./. 3 49459705 . C . . NT END=49459793;NT GT ./. 3 49459884 . C . . NT END=49462265;NT GT ./. 3 49462308 . C . . NT END=49462381;NT GT ./. 3 49462487 . C . . NT END=49462799;NT GT ./. 3 49462872 . C . . NT END=49463315;NT GT ./. 3 49463287 rs6446272 G A 59 nt VT=SNV;PN=G;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.7823,A/0.2177;PC=0.004;Gene=NICN1/NM_032316.3/1;CC=c.423+29C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:31:0:0:18,15:598,478:58.52,0.00:49.49,0.00:9.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,2.9:0,0:0,0:45,58:103,93:18,22:NM_032316.3(NICN1) c.423+29C>T,-:0.25,-:0.306781,- 3 49463430 . C . . NT END=49463684;NT GT ./. 3 49463862 . C . . NT END=49466540;NT GT ./. 3 49463926 rs6762593 A G 162 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.03415,G/0.9659;Gene=NICN1/NM_032316.3/1;CC=c.133-65T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:G:44:19:0:0:44:1413:162.25:46.86:115.39:1.00:1.00:1.00:60:45.0:0:0:113:37:19:NM_032316.3(NICN1) c.133-65T>C,NM_032316.3(NICN1) c.133-65T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 49463962 . CT C 13 idl,rn VT=DEL;SST=Single;DP=26;NP=1;PC=0.005;Gene=NICN1/NM_032316.3/1;CC=c.133-102delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CT,I,C:25:10:4:5:17,3,5:548,132,157:0.00,7.61,12.93:0.00,-0.37,0.88:0.00,7.98,12.05:0.00,0.00,0.82:0.00,0.00,0.83:0.00,0.00,0.97:60,60,60:50.5,40.0,40.6:0,1,0:0,0,0:131,109,103:18,42,48:11,12,19:-,NM_032316.3(NICN1) c.133-102delA:-,NOT_FOUND:-,NOT_FOUND 3 49466693 . A . . NT END=49547967;NT GT ./. 3 49466871 rs6446275 A G 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.8375,G/0.1625 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:0:0:0:12,12:331,416:0.00,40.13:0.00,0.00:0.00,40.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.3,41.5:0,0:0,0:76,68:74,82:44,39:-,NM_000481.3(AMT) c.-228-u6760T>C:-,0.18:-,NOT_FOUND 3 49467016 rs71080511 AT A 17 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AT/0.03514,A/0.9649;DB;DBA=NA;PAF=AT/0.03514,A/0.9649;NP=526;PC=0.075;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:AT,A:7:1:0:6:2,5:58,198:0.00,17.01:0.00,3.47:0.00,13.54:0.00,0.97:0.00,0.75:0.00,1.00:60,60:15.5,9.0:0,1:0,0:148,95:3,52:0,9:-,NM_000481.3(AMT) c.-228-u6906delA:-,NOT_FOUND:-,NOT_FOUND 3 49548008 rs2131107 C G 566 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=153;DB;DBA=in-clinvar;PAF=C/0.03415,G/0.9659;PC=1.000;Gene=DAG1/NM_001177643.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001165928.3/1;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177634.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177635.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177636.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177637.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177638.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177639.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177640.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177641.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177642.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_001177644.2/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense;Gene=DAG1/NM_004393.5/0;CC=c.41C>G;ProtCh=p.S14W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:153:119:0:0:153:4934:566.12:352.59:213.53:1.00:1.00:1.00:60:43.6:0:0:74:75:33:NM_001165928.3(DAG1) c.=,NM_001165928.3(DAG1) c.=:0.98,0.98:0.973012,0.973012 3 49548189 rs150727558 C T 324 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=179;DB;DBA=NA;PAF=NA;PC=0.017;Gene=DAG1/NM_001177643.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001165928.3/1;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177634.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177635.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177636.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177637.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177638.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177639.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177640.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177641.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177642.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_001177644.2/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent;Gene=DAG1/NM_004393.5/0;CC=c.222C>T;ProtCh=p.V74=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:179:114:0:0:76,103:2342,3278:0.00,324.02:0.00,154.48:0.00,169.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:22.2,48.4:0,0:0,0:84,76:63,73:37,29:-,NM_001165928.3(DAG1) c.222C>T (p.(=)):-,NOT_FOUND:-,0.000077 3 49548294 rs2329024 T C 455 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=120;DB;DBA=in-clinvar;PAF=T/0.03415,C/0.9659;Gene=DAG1/NM_001177643.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001165928.3/1;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177634.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177635.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177636.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177637.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177638.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177639.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177640.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177641.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177642.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_001177644.2/0;CC=c.285+42T>C;VC=Intron;Gene=DAG1/NM_004393.5/0;CC=c.285+42T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:120:62:0:0:1,119:7,3985:0.04,454.76:0.04,171.36:0.00,283.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,47.3:0,0:0,0:45,65:106,82:0,43:NM_001165928.3(DAG1) c.285+42T>C,NM_001165928.3(DAG1) c.285+42T>C:0.98,0.98:0.973243,0.973243 3 49548413 . T . . NT END=49568229;NT GT ./. 3 49568095 rs2311801 G A 81 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=23;DB;DBA=in-clinvar;PAF=G/0.03395,A/0.9661;Gene=DAG1/NM_001177643.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001165928.3/1;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177634.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177635.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177636.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177637.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177638.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177639.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177640.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177641.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177642.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_001177644.2/0;CC=c.286-135G>A;VC=Intron;Gene=DAG1/NM_004393.5/0;CC=c.286-135G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:A:23:23:0:0:23:699:80.76:78.82:1.94:1.00:1.00:1.00:60:35.9:0:0:66:84:42:NM_001165928.3(DAG1) c.286-135G>A,NM_001165928.3(DAG1) c.286-135G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 49570200 rs1801143 C T 325 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=191;DB;DBA=in-clinvar;PAF=C/0.7841,T/0.2159;PC=1.000;Gene=DAG1/NM_001177643.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001165928.3/1;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177634.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177635.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177636.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177637.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177638.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177639.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177640.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177641.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177642.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_001177644.2/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;Gene=DAG1/NM_004393.5/0;CC=c.2256C>T;ProtCh=p.H752=;VC=Silent;DM=DAG1/DAG1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:191:127:0:0:1,86,104:20,2809,3327:0.21,0.00,325.45:0.31,0.00,162.51:-0.10,0.00,162.94:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:108.0,10.4,36.2:0,0,0:0,0,0:94,73,89:57,74,58:0,35,30:-,NM_001165928.3(DAG1) c.2256C>T (p.(=)):-,0.25:-,0.305628 3 49570633 . C . . NT END=49592035;NT GT ./. 3 49583350 rs59676168 A AACAC 9 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=11;NP=4;PC=0.055;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:A,C,AACAC,D:8:4:3:2:3,1,3,1:74,36,100,66:0.00,2.97,9.48,2.77:0.00,-0.03,3.31,2.90:0.00,3.00,6.17,-0.13:0.00,0.00,0.64,0.00:0.00,0.00,0.81,0.00:0.00,0.00,0.94,0.00:60,60,60,60:7.3,36.0,7.0,0.0:0,0,0,1:0,0,0,0:107,46,50,66:40,102,101,84:1,0,9,13:-,chr3 g.49583350_49583351insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 49592260 . G . . NT END=49662407;NT GT ./. 3 49622632 rs397792026 G GT 24 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1404,GT/0.8596;DB;DBA=NA;PAF=G/0.1404,GT/0.8596;NP=617;PC=0.005;Gene=BSN/NM_003458.3/1;CC=c.224+30383_224+30384insT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:G,GT,D:10:10:7:1:2,7,1:69,225,25:0.00,23.71,1.89:0.00,23.71,1.89:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:4.5,13.3,46.0:0,0,0:0,0,0:87,35,90:64,116,60:48,12,0:-,NM_003458.3(BSN) c.224+30373_224+30374insT:-,NOT_FOUND:-,NOT_FOUND 3 49662817 . G . . NT END=49679700;NT GT ./. 3 49679826 rs115552063 G A 143 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=106;DB;DBA=NA;PAF=G/0.9938,A/0.00619,T/.;NP=45;PC=0.991;Gene=BSN/NM_003458.3/1;CC=c.759G>A;ProtCh=p.P253=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:106:83:0:0:49,56,1:1513,1688,11:143.13,0.00,-0.10:78.02,0.00,-0.04:65.11,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.4,10.6,86.0:0,0,0:0,0,0:69,67,100:74,77,37:40,37,0:NM_003458.3(BSN) c.759G>A (p.(=)),-:0.01,-:0.010848,- 3 49680586 . G . . NT END=49688044;NT GT ./. 3 49688513 . G . . NT END=49688975;NT GT ./. 3 49689210 rs34762726 G A 258 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=190;DB;DBA=NA;PAF=G/0.7911,A/0.2089;PC=0.414;Gene=BSN/NM_003458.3/1;CC=c.2221G>A;ProtCh=p.A741T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:190:132:0:0:89,101:2727,3212:258.08,0.00:164.31,0.00:93.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,9.0:0,0:0,0:69,64:78,86:36,36:NM_003458.3(BSN) c.2221G>A (p.Ala741Thr),-:0.24,-:0.287988,- 3 49689642 rs150021639 C T 174 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.9932,T/0.006789;PC=0.991;Gene=BSN/NM_003458.3/1;CC=c.2653C>T;ProtCh=p.P885S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:135:97:0:0:1,74,60:13,2452,1857:-0.08,0.00,174.28:-0.13,0.00,83.77:0.05,0.00,90.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:23.0,9.3,37.6:0,0,0:0,0,0:75,78,81:76,72,64:0,34,40:-,NM_003458.3(BSN) c.2653C>T (p.Pro885Ser):-,0.01:-,0.012612 3 49690199 rs4855885 G A 268 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=169;DB;DBA=NA;PAF=G/0.08646,A/0.9135;Gene=BSN/NM_003458.3/1;CC=c.3210G>A;ProtCh=p.T1070=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:169:119:0:0:84,84,1:2783,2453,10:267.93,0.00,-0.16:134.14,0.00,-0.12:133.79,0.00,-0.04:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:36.6,13.4,139.0:0,0,0:0,0,0:74,61,108:69,80,10:35,38,0:NM_003458.3(BSN) c.3210G>A (p.(=)),-:0.9,-:0.838997,- 3 49690496 rs11709525 C T 245 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=171;DB;DBA=NA;PAF=C/0.7925,G/.,T/0.2075;Gene=BSN/NM_003458.3/1;CC=c.3507C>T;ProtCh=p.S1169=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:171:117:0:0:92,79:2776,2581:0.00,244.62:0.00,120.81:0.00,123.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.7,41.3:0,0:0,0:90,74:58,67:37,36:-,NM_003458.3(BSN) c.3507C>T (p.(=)):-,0.23:-,0.287175 3 49695630 . G . . NT END=49697918;NT GT ./. 3 49699996 . G . . NT END=49700308;NT GT ./. 3 49700175 . A G 6 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=45;PC=1.000;Gene=BSN/NM_003458.3/1;CC=c.10718-134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,G:45:22:0:0:36,9:917,117:0.00,6.31:0.00,-1.32:0.00,7.64:0.00,0.99:0.00,0.98:0.00,0.98:60,60:26.7,104.3:0,0:0,0:75,79:75,72:49,34:-,NM_003458.3(BSN) c.10718-134A>G:-,NOT_FOUND:-,NOT_FOUND 3 49701100 . G . . NT END=49701219;NT GT ./. 3 49701320 . G . . NT END=49701855;NT GT ./. 3 49701983 rs9858542 G A 180 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=120;DB;DBA=NA;PAF=G/0.8047,A/0.1953;PC=0.346;Gene=BSN/NM_003458.3/1;CC=c.11736G>A;ProtCh=p.T3912=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:120:74:0:0:57,62,1:1888,1839,13:180.29,0.00,-0.05:83.43,0.00,-0.09:96.85,0.00,0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.7,6.6,74.0:0,0,0:0,0,0:74,79,11:71,65,140:28,37,0:NM_003458.3(BSN) c.11736G>A (p.(=)),-:0.22,-:0.27841,- 3 49701988 . G . . NT END=49702231;NT GT ./. 3 49702273 . C . . NT END=49711834;NT GT ./. 3 49711847 . G . . NT END=49711921;NT GT ./. 3 49712055 . G . . NT END=49712615;NT GT ./. 3 49712297 rs11130213 C T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7983,T/0.2017;Gene=APEH/NM_001640.3/1;CC=c.145+243C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,C,T:6:3:0:0:1,1,4:20,33,113:1.62,0.00,12.02:1.70,0.00,6.50:-0.08,0.00,5.52:0.00,0.00,0.93:0.00,0.00,0.97:0.00,0.00,0.97:60,60,60:20.0,12.0,55.2:0,0,0:0,0,0:103,125,75:48,26,76:0,0,34:-,NM_001640.3(APEH) c.145+243C>T:-,0.23:-,NOT_FOUND 3 49712743 . G . . NT END=49713126;NT GT ./. 3 49713221 . G . . NT END=49713323;NT GT ./. 3 49713400 . G . . NT END=49713488;NT GT ./. 3 49713653 . G . . NT END=49713810;NT GT ./. 3 49713753 rs6778597 T C 263 nt VT=SNV;PN=T;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.005791,C/0.9942;NP=3467;Gene=APEH/NM_001640.3/1;CC=c.607-58T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:70:45:0:0:70:2298:263.04:138.89:124.15:1.00:1.00:1.00:60:43.1:0:0:76:75:42:NM_001640.3(APEH) c.607-58T>C,NM_001640.3(APEH) c.607-58T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 49713949 . G . . NT END=49714041;NT GT ./. 3 49714134 . G . . NT END=49714209;NT GT ./. 3 49714225 rs1131095 T C 224 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=T/0.7973,C/0.2027;PC=0.023;Gene=APEH/NM_001640.3/1;CC=c.852T>C;ProtCh=p.Y284=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:126:69:0:0:71,55:2280,1718:224.43,0.00:100.33,0.00:124.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,14.5:0,0:0,0:89,75:60,64:31,41:NM_001640.3(APEH) c.852T>C (p.(=)),-:0.23,-:0.282869,- 3 49714251 . G . . NT END=49714335;NT GT ./. 3 49714458 . G . . NT END=49715005;NT GT ./. 3 49715067 . G . . NT END=49716284;NT GT ./. 3 49716383 . G . . NT END=49717025;NT GT ./. 3 49717078 . G . . NT END=49717973;NT GT ./. 3 49718063 . G . . NT END=49718533;NT GT ./. 3 49718673 . G . . NT END=49719154;NT GT ./. 3 49719239 . G . . NT END=49719319;NT GT ./. 3 49719401 . G . . NT END=49719780;NT GT ./. 3 49719729 rs9822268 G A 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.7911,A/0.2089;Gene=APEH/NM_001640.3/1;CC=c.1604-52G>A;VC=Intron;DM=APEH/Peptidase_S9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:25:0:0:17,13:506,420:49.76,0.00:36.46,0.00:13.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,10.1:0,0:0,0:44,50:107,101:12,33:NM_001640.3(APEH) c.1604-52G>A,-:0.24,-:0.282094,- 3 49719870 . G . . NT END=49719978;NT GT ./. 3 49720170 . G . . NT END=49720275;NT GT ./. 3 49720379 . G . . NT END=49720472;NT GT ./. 3 49720580 . G . . NT END=49720669;NT GT ./. 3 49720776 . A . . NT END=49721460;NT GT ./. 3 49721532 rs3197999 G A 378 lc VT=SNV;PN=C;NN=G;SST=Single;DP=224;DB;DBA=NA;PAF=G/0.8081,A/0.1919;PC=0.511;Gene=MST1/NM_020998.3/1;CC=c.2107C>T;ProtCh=p.R703C;VC=Missense;DM=MST1/Trypsin;DM=MST1/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:224:174:0:0:118,106:3887,3217:377.75,0.00:219.51,0.00:158.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.2,6.3:0,0:0,0:68,68:81,77:38,33:NM_020998.3(MST1) c.2107C>T (p.Arg703Cys),-:0.22,-:0.273797,- 3 49721623 . C . . NT END=49721746;NT GT ./. 3 49721798 rs13085791 C A 275 lc VT=SNV;PN=C;NN=C;SST=Single;DP=204;DB;DBA=NA;PAF=C/0.7911,A/0.2089;Gene=MST1/NM_020998.3/1;CC=c.1965G>T;ProtCh=p.R655=;VC=Silent;DM=MST1/Trypsin;DM=MST1/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:204:116:0:0:93,111:2919,3399:275.24,0.00:126.42,0.00:148.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.1,13.3:0,0:0,0:85,87:63,59:35,36:NM_020998.3(MST1) c.1965G>T (p.(=)),-:0.24,-:0.289097,- 3 49721887 . C . . NT END=49721982;NT GT ./. 3 49722090 . C . . NT END=49722170;NT GT ./. 3 49722318 . C . . NT END=49722444;NT GT ./. 3 49722356 rs9837520 G A 192 nt VT=SNV;PN=A;NN=T;SST=Single;DP=161;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MST1/NM_020998.3/1;CC=c.1623-39C>T;VC=Intron;DM=MST1/Trypsin;DM=MST1/Trypsin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:161:81:0:0:66,95:2080,3185:192.16,0.00:61.64,0.00:130.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:57,60:42.2,9.0:0,0:0,0:103,85:44,50:22,30:NM_020998.3(MST1) c.1623-39C>T,-:0.24,-:NOT_FOUND,- 3 49722523 . C . . NT END=49722694;NT GT ./. 3 49722816 . C . . NT END=49722903;NT GT ./. 3 49722940 . C . . NT END=49723028;NT GT ./. 3 49723166 . C . . NT END=49723292;NT GT ./. 3 49723396 . C . . NT END=49723494;NT GT ./. 3 49723626 . C . . NT END=49723745;NT GT ./. 3 49723726 rs71631023 G C 75 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=NA;NP=2;NP=2;Gene=MST1/NM_020998.3/1;CC=c.1016+20C>G;VC=Intron;DM=MST1/Kringle;DM=MST1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T,I,D:112:51:29:6:33,54,1,20,4:851,1346,13,759,63:74.79,0.00,-0.02,42.10,2.16:21.50,0.00,0.09,1.88,0.18:53.29,0.00,-0.12,40.23,1.98:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,60,36:107.0,44.7,48.0,133.4,94.0:13,3,0,9,2:0,0,0,0,0:101,107,149,82,24:25,14,2,64,124:14,38,0,23,7:NM_020998.3(MST1) c.1016+20C>G,-:NOT_FOUND,-:NOT_FOUND,- 3 49723750 rs71324987 A G 195 lc VT=SNV;PN=C;NN=C;SST=Single;DP=201;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MST1/NM_020998.3/1;CC=c.1012T>C;ProtCh=p.C338R;VC=Missense;DM=MST1/Kringle;DM=MST1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:201:55:0:0:132,4,65:3960,44,2180:0.00,-0.19,194.81:0.00,0.11,25.46:0.00,-0.30,169.35:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:45.6,69.2,74.1:0,0,0:0,0,0:43,42,57:102,76,83:27,1,41:-,NM_020998.3(MST1) c.1012T>C (p.Cys338Arg):-,0.03:-,NOT_FOUND 3 49723823 rs7431215 A G 366 lc VT=SNV;PN=C;NN=G;SST=Single;DP=366;DB;DBA=NA;PAF=NA;PC=0.003;Gene=MST1/NM_020998.3/1;CC=c.939T>C;ProtCh=p.T313=;VC=Silent;DM=MST1/Kringle;DM=MST1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:366:225:0:0:232,133,1:7615,4068,11:0.00,366.27,-0.26:0.00,258.66,-0.07:0.00,107.61,-0.19:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,52,3:16.2,54.0,89.0:0,0,0:0,0,0:56,42,100:92,105,51:29,28,0:-,NM_020998.3(MST1) c.939T>C (p.(=)):-,0.15:-,NOT_FOUND 3 49723915 . C . . NT END=49724116;NT GT ./. 3 49724014 rs6779963 G A 284 nt VT=SNV;PN=G;NN=T;SST=Single;DP=205;DB;DBA=NA;PAF=NA;NP=130;Gene=MST1/NM_020998.3/1;CC=c.848-100C>T;VC=Intron;DM=MST1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:205:81:0:0:98,2,105:2984,19,3413:283.92,-0.27,0.00:73.94,-0.11,0.00:209.98,-0.16,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:53,41,60:43.3,38.0,7.5:0,0,0:0,0,0:101,84,77:49,66,74:23,60,43:NM_020998.3(MST1) c.848-100C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 49724048 rs10711993 TC T 183 nt VT=DEL;SST=Single;DP=189;DB;DBA=NA;PAF=NA;NP=187;Gene=MST1/NM_020998.3/1;CC=c.847+68delG;VC=Intron;DM=MST1/Kringle;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,TC,T:189:80:0:90:1,1,98,89:11,8,2970,1998:-0.15,-0.18,0.00,183.19:-0.09,-0.09,0.00,54.57:-0.05,-0.09,0.00,128.62:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:41,40,60,43:21.0,8.0,13.2,38.1:0,0,0,0:0,0,0,0:13,0,75,82:138,151,76,68:0,0,34,47:-,NM_020998.3(MST1) c.847+68delG:-,NOT_FOUND:-,NOT_FOUND 3 49724183 rs201944579 C G 89 lc VT=SNV;PN=T;NN=G;SST=Single;DP=173;DB;DBA=NA;PAF=NA;NP=48;PC=1.000;Gene=MST1/NM_020998.3/1;CC=c.781G>C;ProtCh=p.E261Q;VC=Missense;DM=MST1/Kringle;DM=MST1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:173:96:0:0:135,37,1:4192,1106,23:0.00,89.40,0.31:0.00,2.85,0.46:0.00,86.56,-0.15:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:52,42,43:13.6,74.9,23.0:0,0,0:0,0,0:66,104,61:85,46,89:35,25,0:-,NM_020998.3(MST1) c.781G>C (p.Glu261Gln):-,NOT_FOUND:-,NOT_FOUND 3 49724197 rs200307945 T C 69 sb,lc VT=SNV;PN=A;NN=T;SST=Single;DP=170;DB;DBA=NA;PAF=NA;NP=36;PC=1.000;Gene=MST1/NM_020998.3/1;CC=c.767A>G;ProtCh=p.N256S;VC=Missense;DM=MST1/Kringle;DM=MST1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:170:98:0:0:26,2,142:883,21,4452:69.29,-0.48,0.00:-5.88,-0.31,0.00:75.17,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:40,40,60:80.5,142.5,13.4:0,0,0:0,0,0:105,113,68:45,37,79:13,27,35:NM_020998.3(MST1) c.767A>G (p.Asn256Ser),-:NOT_FOUND,-:NOT_FOUND,- 3 49724236 . C . . NT END=49724379;NT GT ./. 3 49724501 . C . . NT END=49724581;NT GT ./. 3 49724719 . C . . NT END=49724796;NT GT ./. 3 49724808 rs3020779 T C 216 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=170;DB;DBA=NA;PAF=T/0.1398,C/0.8602;Gene=MST1/NM_020998.3/1;CC=c.459A>G;ProtCh=p.P153=;VC=Silent;DM=MST1/Kringle;DM=MST1/Kringle GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:170:93:0:0:74,96:2312,3048:215.91,0.00:95.50,0.00:120.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,7.0:0,0:0,0:84,67:63,77:36,36:NM_020998.3(MST1) c.459A>G (p.(=)),-:0.86,-:0.787604,- 3 49724912 . C . . NT END=49724988;NT GT ./. 3 49725102 . C . . NT END=49725182;NT GT ./. 3 49725331 . C . . NT END=49726030;NT GT ./. 3 49725904 . G A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=31;PC=0.989;Gene=MST1/NM_020998.3/1;CC=c.94+127C>T;VC=Intron;DM=MST1/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,G:31:31:0:0:4,27:130,901:9.73,0.00:9.73,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:41,60:157.8,20.6:0,0:0,0:23,53:126,98:5,25:NM_020998.3(MST1) c.94+127C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 49725908 rs76705346 G C 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=3;PC=1.000;Gene=MST1/NM_020998.3/1;CC=c.94+123C>G;VC=Intron;DM=MST1/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,G:31:31:0:0:4,27:141,789:10.84,0.00:10.84,0.00:0.00,0.00:0.64,0.00:0.64,0.00:0.00,0.00:41,60:157.8,20.6:0,0:0,0:27,57:122,94:5,25:NM_020998.3(MST1) c.94+123C>G,-:NOT_FOUND,-:NOT_FOUND,- 3 49725910 rs74982520 A G 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=5;PC=1.000;Gene=MST1/NM_020998.3/1;CC=c.94+121T>C;VC=Intron;DM=MST1/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:113:A,G:35:35:0:0:29,6:907,173:0.00,13.21:0.00,13.21:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,41:25.2,138.0:0,0:0,0:54,20:97,130:26,14:-,NM_020998.3(MST1) c.94+121T>C:-,NOT_FOUND:-,NOT_FOUND 3 49725948 rs141881740 C T 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=1225;Gene=MST1/NM_020998.3/1;CC=c.94+83G>A;VC=Intron;DM=MST1/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:70:0:0:41,33:1248,1052:0.00,98.85:0.00,96.76:0.00,2.10:0.00,1.00:0.00,1.00:0.00,0.98:60,51:18.3,102.6:0,0:0,0:66,24:84,122:42,14:-,NM_020998.3(MST1) c.94+83G>A:-,NOT_FOUND:-,NOT_FOUND 3 49726028 rs62262685 T C 155 nt VT=SNV;PN=T;NN=A;SST=Single;DP=152;DB;DBA=NA;PAF=NA;NP=2184;PC=0.769;Gene=MST1/NM_020998.3/1;CC=c.94+3A>G;VC=Intergenic;DM=MST1/PAN_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:152:132:0:0:2,50,100:16,1725,3118:-0.41,154.89,0.00:-0.19,96.74,0.00:-0.22,58.15,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:33,50,60:106.5,81.8,11.0:0,0,0:0,0,0:99,62,50:38,88,99:14,23,27:NM_020998.3(MST1) c.94+3A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 49726070 rs62262686 G A 133 lc VT=SNV;PN=G;NN=G;SST=Single;DP=184;DB;DBA=NA;PAF=NA;NP=1170;PC=0.838;Gene=MST1/NM_020998.3/1;CC=c.55C>T;ProtCh=p.P19S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:184:141:0:0:47,1,136:1559,5,4240:133.07,-0.28,0.00:61.06,-0.16,0.00:72.01,-0.12,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:50,43,60:80.2,58.0,7.9:0,0,0:0,0,0:95,49,59:56,102,83:18,0,35:NM_020998.3(MST1) c.55C>T (p.Pro19Ser),-:NOT_FOUND,-:NOT_FOUND,- 3 49726125 . C . . NT END=49728598;NT GT ./. 3 49726406 . C T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;NP=33 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:9:0:0:0:6,3:183,100:0.00,8.95:0.00,0.00:0.00,8.95:0.00,0.64:0.00,0.00:0.00,0.64:60,33:40.2,137.3:0,0:0,0:122,109:28,42:19,13:-,NM_020998.3(MST1) c.-72-u210G>A:-,NOT_FOUND:-,NOT_FOUND 3 49726419 . G C 10 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;NP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:105:C,G:7:0:0:0:3,4:104,117:9.76,0.00:0.00,0.00:9.76,0.00:0.69,0.00:0.00,0.00:0.69,0.00:33,60:137.3,60.2:0,0:0,0:122,115:29,35:13,20:NM_020998.3(MST1) c.-72-u223C>G,-:NOT_FOUND,-:NOT_FOUND,- 3 49728681 . G . . NT END=49728857;NT GT ./. 3 49728943 . G . . NT END=49734575;NT GT ./. 3 49734656 . G . . NT END=49734795;NT GT ./. 3 49734891 . G . . NT END=49735317;NT GT ./. 3 49735373 . G . . NT END=49735484;NT GT ./. 3 49735571 . G . . NT END=49735872;NT GT ./. 3 49735960 . G . . NT END=49736187;NT GT ./. 3 49736256 . G . . NT END=49736412;NT GT ./. 3 49736539 . A . . NT END=49736900;NT GT ./. 3 49736565 rs6785549 G A 109 nt VT=SNV;PN=G;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.4153,A/0.5847;PC=0.006;Gene=RNF123/NM_022064.3/1;CC=c.764+27G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:33:0:0:36,34:1130,1040:109.15,0.00:26.86,0.00:82.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,9.1:0,0:0,0:100,94:49,46:30,36:NM_022064.3(RNF123) c.764+27G>A,-:0.6,-:0.477696,- 3 49737016 . G . . NT END=49737100;NT GT ./. 3 49737206 . G . . NT END=49737659;NT GT ./. 3 49737323 rs11130217 A G 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.138,G/0.862;PC=0.332;Gene=RNF123/NM_022064.3/1;CC=c.984+118A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:2:0:0:11,14:379,378:0.00,36.96:0.00,2.97:0.00,33.99:0.00,1.00:0.00,0.84:0.00,1.00:60,60:14.9,36.2:0,0:0,0:118,89:30,62:22,28:-,NM_022064.3(RNF123) c.984+118A>G:-,0.86:-,NOT_FOUND 3 49737786 . G . . NT END=49737904;NT GT ./. 3 49737954 rs35620248 G A 131 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=G/0.9776,A/0.02236;PC=1.000;Gene=RNF123/NM_022064.3/1;CC=c.1160G>A;ProtCh=p.R387Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:54:0:0:42,49:1382,1471:131.03,0.00:77.95,0.00:53.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,4.3:0,0:0,0:66,63:77,81:30,34:NM_022064.3(RNF123) c.1160G>A (p.Arg387Gln),-:0.04,-:0.043365,- 3 49737998 . G . . NT END=49738068;NT GT ./. 3 49738143 . G . . NT END=49738923;NT GT ./. 3 49739042 . G . . NT END=49739243;NT GT ./. 3 49739086 rs1491986 C T 79 nt VT=SNV;PN=C;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.4145,T/0.5855;Gene=RNF123/NM_022064.3/1;CC=c.1395+45C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:48:23:0:0:1,22,25:8,638,809:-0.08,0.00,78.73:-0.07,0.00,36.07:-0.01,0.00,42.66:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.0,0.8,41.8:0,0,0:0,0,0:93,106,93:58,45,58:0,37,46:-,NM_022064.3(RNF123) c.1395+45C>T:-,0.6:-,0.479625 3 49739344 . G . . NT END=49739515;NT GT ./. 3 49739507 rs1491985 G C 121 nt VT=SNV;PN=T;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.1516,C/0.8484;Gene=RNF123/NM_022064.3/1;CC=c.1496-9G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:70:49:0:0:37,33:1240,1135:120.62,0.00:67.77,0.00:52.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,4.9:0,0:0,0:61,65:85,81:26,26:NM_022064.3(RNF123) c.1496-9G>C,-:0.84,-:0.775411,- 3 49739578 . G . . NT END=49739766;NT GT ./. 3 49739839 . G . . NT END=49740065;NT GT ./. 3 49740187 . G . . NT END=49740859;NT GT ./. 3 49740450 rs76100153 C T 8 nt VT=SNV;PN=G;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9882,T/0.01178;Gene=RNF123/NM_022064.3/1;CC=c.1750+264C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,T:8:1:0:0:4,4:111,86:0.00,8.05:0.00,3.28:0.00,4.78:0.00,0.87:0.00,0.67:0.00,0.99:60,60:26.8,23.5:0,0:0,0:45,66:104,83:30,55:-,NM_022064.3(RNF123) c.1750+264C>T:-,0.02:-,NOT_FOUND 3 49740962 . G . . NT END=49742082;NT GT ./. 3 49742190 . G . . NT END=49742416;NT GT ./. 3 49742620 . G . . NT END=49742966;NT GT ./. 3 49743113 . G . . NT END=49743414;NT GT ./. 3 49743499 . G . . NT END=49744223;NT GT ./. 3 49744332 . G . . NT END=49749911;NT GT ./. 3 49744392 rs3749241 A G 84 nt VT=SNV;PN=G;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=A/0.4028,G/0.5972;Gene=RNF123/NM_022064.3/1;CC=c.2496+61A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:46:9:0:0:20,26:630,855:0.00,84.23:0.00,14.99:0.00,69.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,39.1:0,0:0,0:104,113:47,37:23,32:-,NM_022064.3(RNF123) c.2496+61A>G:-,0.61:-,NOT_FOUND 3 49750090 . G . . NT END=49750945;NT GT ./. 3 49750188 rs3749240 T A 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.403,A/0.597;Gene=RNF123/NM_022064.3/1;CC=c.2674+99T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:29:3:0:0:16,1,12:499,10,361:49.21,0.09,0.00:7.39,0.00,0.00:41.82,0.09,0.00:1.00,0.00,0.00:0.92,0.00,0.00:1.00,0.00,0.00:60,60,60:37.2,31.0,11.8:0,0,0:0,0,0:116,97,115:34,50,32:11,0,16:NM_022064.3(RNF123) c.2674+99T>A,-:0.61,-:NOT_FOUND,- 3 49751021 . G . . NT END=49751170;NT GT ./. 3 49751259 . G . . NT END=49751342;NT GT ./. 3 49751431 . G . . NT END=49751522;NT GT ./. 3 49751608 . G . . NT END=49753007;NT GT ./. 3 49751856 rs12715437 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1384,C/0.8616;Gene=RNF123/NM_022064.3/1;CC=c.3010+249T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:0:0:0:4:99:11.68:0.00:11.68:1.00:0.00:1.00:60:36.2:0:0:133:16:14:NM_022064.3(RNF123) c.3010+249T>C,NM_022064.3(RNF123) c.3010+249T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 49753003 rs34614773 T G 140 nt VT=SNV;PN=C;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.4151,A/.,C/.,G/0.5849;Gene=RNF123/NM_022064.3/1;CC=c.3011-5T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:114:90:0:0:49,65:1501,2162:139.61,0.00:82.62,0.00:56.99,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,6.2:0,0:0,0:48,63:87,84:33,29:NM_022064.3(RNF123) c.3011-5T>G,-:0.6,-:0.479625,- 3 49753148 . G . . NT END=49753254;NT GT ./. 3 49753444 . G . . NT END=49753534;NT GT ./. 3 49753611 . G . . NT END=49753825;NT GT ./. 3 49753788 rs11720705 A G 78 nt VT=SNV;PN=C;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.1492,G/0.8508;Gene=RNF123/NM_022064.3/1;CC=c.3416-38A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:45:0:0:27,27:877,819:0.00,78.48:0.00,52.30:0.00,26.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,38.2:0,0:0,0:43,50:108,101:32,35:-,NM_022064.3(RNF123) c.3416-38A>G:-,0.85:-,0.776565 3 49753911 . G . . NT END=49755383;NT GT ./. 3 49756899 . G . . NT END=49757943;NT GT ./. 3 49758087 . G . . NT END=49758232;NT GT ./. 3 49758328 . G . . NT END=49758452;NT GT ./. 3 49758539 . G . . NT END=49758617;NT GT ./. 3 49758739 . C . . NT END=49759184;NT GT ./. 3 49759581 . C . . NT END=49759663;NT GT ./. 3 49759792 . C . . NT END=49759864;NT GT ./. 3 49759944 . C . . NT END=49760028;NT GT ./. 3 49760039 rs1466685 T C 460 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=T/0.01098,C/0.989;Gene=GMPPB/NM_013334.3/1;CC=c.551A>G;ProtCh=p.Q184R;VC=Missense;Gene=GMPPB/NM_021971.2/0;CC=c.551A>G;ProtCh=p.Q184R;VC=Missense;DM=GMPPB/NTP_transferase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:134:77:0:0:134:3972:460.14:215.40:244.74:1.00:1.00:1.00:60:41.6:0:0:81:65:34:NM_013334.2(GMPPB) c.=,NM_013334.2(GMPPB) c.=:0.99,0.99:0.989159,0.989159 3 49760188 . C . . NT END=49760404;NT GT ./. 3 49760548 . C . . NT END=49760686;NT GT ./. 3 49760736 . C . . NT END=49760824;NT GT ./. 3 49760906 . C . . NT END=49761030;NT GT ./. 3 49761160 . C . . NT END=49764554;NT GT ./. 3 49765089 . C . . NT END=49765535;NT GT ./. 3 49765712 . C . . NT END=49770223;NT GT ./. 3 49765728 rs370846796 G C 113 nt VT=SNV;PN=G;NN=A;SST=Single;DP=81;DB;DBA=NA;PAF=NA;PC=1.000;Gene=IP6K1/NM_001242829.1/1;CC=c.617-17C>G;VC=Intron;Gene=IP6K1/NM_001006115.2/0;CC=c.122-17C>G;VC=Intron;Gene=IP6K1/NM_153273.3/0;CC=c.617-17C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:81:28:0:0:37,43,1:1194,1387,12:113.06,0.00,-0.04:18.82,0.00,0.13:94.24,0.00,-0.17:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.7,5.7,42.0:0,0,0:0,0,0:85,85,150:59,57,1:33,28,0:NM_001242829.1(IP6K1) c.617-17C>G,-:NOT_FOUND,-:0.000154,- 3 49765948 rs397707480 C CATTT 12 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4141,CATTT/0.5859;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4141,CATTT/0.5859;NP=344;Gene=IP6K1/NM_001242829.1/1;CC=c.617-238_617-237insAAAT;VC=Intron;Gene=IP6K1/NM_001006115.2/0;CC=c.122-238_122-237insAAAT;VC=Intron;Gene=IP6K1/NM_153273.3/0;CC=c.617-238_617-237insAAAT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:C,CATTT:9:0:4:0:5,4:121,125:0.00,11.78:0.00,0.00:0.00,11.78:0.00,0.85:0.00,0.00:0.00,0.85:60,60:77.8,5.8:0,0:0,0:80,110:70,36:57,17:-,NM_001242829.1(IP6K1) c.617-238_617-237insAAAT:-,0.6:-,NOT_FOUND 3 49770406 . C . . NT END=49775644;NT GT ./. 3 49775856 . C . . NT END=49785250;NT GT ./. 3 49780674 . TAC T,TACACACAC 7 end,nt VT=DEL;SST=Single;DP=4;NP=7;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:6:TAC,TACACACAC,T:4:3:1:2:1,1,2:26,32,66:0.00,2.95,6.65:0.00,3.08,6.95:0.00,-0.12,-0.30:0.00,0.00,0.51:0.00,0.00,0.89:0.00,0.00,0.67:60,60,60:87.0,24.0,0.0:0,0,0:0,0,0:149,8,51:2,142,100:0,0,34:NM_001242829.1(IP6K1) c.223+4575_223+4576delGT,NM_001242829.1(IP6K1) c.223+4575GT[4]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 49785133 rs7374183 G A 66 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.4123,A/0.5877;Gene=IP6K1/NM_001242829.1/1;CC=c.223+118C>T;VC=Intron;Gene=IP6K1/NM_001006115.2/0;CC=c.-272-9278C>T;VC=Intron;Gene=IP6K1/NM_153273.3/0;CC=c.223+118C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:35:0:0:20,17:680,511:66.50,0.00:50.64,0.00:15.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,5.2:0,0:0,0:34,68:116,82:23,16:NM_001242829.1(IP6K1) c.223+118C>T,-:0.61,-:NOT_FOUND,- 3 49785474 . T . . NT END=49828264;NT GT ./. 3 49812866 rs7613603 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.8628,T/0.1372;PC=0.933;Gene=IP6K1/NM_001242829.1/1;CC=c.-129+10237G>A;VC=Intron;Gene=IP6K1/NM_001006115.2/0;CC=c.-273+10921G>A;VC=Intron;Gene=IP6K1/NM_153273.3/0;CC=c.-129+10921G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:9:7:0:0:4,5:129,166:0.00,16.30:0.00,13.03:0.00,3.27:0.00,0.96:0.00,0.99:0.00,0.84:60,60:2.8,62.8:0,0:0,0:72,38:79,113:52,12:-,NM_001242829.1(IP6K1) c.-129+10237G>A:-,0.14:-,NOT_FOUND 3 49813013 rs34451146 C T 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5976,T/0.4024;PC=0.996;Gene=IP6K1/NM_001242829.1/1;CC=c.-129+10090G>A;VC=Intron;Gene=IP6K1/NM_001006115.2/0;CC=c.-273+10774G>A;VC=Intron;Gene=IP6K1/NM_153273.3/0;CC=c.-129+10774G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,T:11:8:0:0:6,5:191,154:0.00,14.49:0.00,12.04:0.00,2.45:0.00,0.93:0.00,0.99:0.00,0.99:60,60:6.0,37.8:0,0:0,0:65,73:81,67:10,56:-,NM_001242829.1(IP6K1) c.-129+10090G>A:-,0.39:-,NOT_FOUND 3 49813169 rs57648519 C A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5855,A/0.4145;PC=0.020;Gene=IP6K1/NM_001242829.1/1;CC=c.-129+9934G>T;VC=Intron;Gene=IP6K1/NM_001006115.2/0;CC=c.-273+10618G>T;VC=Intron;Gene=IP6K1/NM_153273.3/0;CC=c.-129+10618G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:128:14.71:0.00:14.71:1.00:0.00:1.00:60:32.0:0:0:88:61:26:NM_001242829.1(IP6K1) c.-129+9934G>T,NM_001242829.1(IP6K1) c.-129+9934G>T:0.39,0.39:NOT_FOUND,NOT_FOUND 3 49827660 rs71080555 G GCACA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=11;NP=13;NP=2;NP=23;PC=0.020;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:G,GCACA,D:6:4:3:1:2,3,1:61,99,33:0.00,9.83,2.84:0.00,1.24,1.38:0.00,8.59,1.46:0.00,0.73,0.00:0.00,0.51,0.00:0.00,0.96,0.00:60,70,60:30.5,34.0,0.0:0,0,0:0,0,0:18,33,21:102,85,79:10,10,0:-,NM_001242829.1(IP6K1) c.-653-u4034_-653-u4033insTGTG:-,NOT_FOUND:-,NOT_FOUND 3 49828321 . C . . NT END=49828873;NT GT ./. 3 49828902 . C . . NT END=49829146;NT GT ./. 3 49828911 . GA G 13 idl,rn VT=DEL;SST=Single;DP=83;NP=14;PC=0.012;Gene=CDHR4/NM_001007540.3/1;CC=c.2284-11delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:C,GA,I,G:81:61:5:8:1,69,5,6:11,2173,161,257:-0.21,0.00,10.53,13.08:-0.19,0.00,5.46,7.84:-0.02,0.00,5.07,5.24:0.00,0.00,0.00,0.77:0.00,0.00,0.00,0.95:0.00,0.00,0.00,0.94:60,60,60,60:139.0,16.1,22.6,4.7:0,0,0,2:0,0,0,0:120,55,95,86:19,76,54,63:0,27,15,19:-,NM_001007540.2(CDHR4) c.2284-11delT:-,NOT_FOUND:-,NOT_FOUND 3 49829235 . C . . NT END=49829335;NT GT ./. 3 49829393 . C . . NT END=49829900;NT GT ./. 3 49829653 rs7637711 A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.862,G/0.138;Gene=CDHR4/NM_001007540.3/1;CC=c.2138+248T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:162:A,G,T:17:10:0:0:10,6,1:251,166,11:0.00,14.82,0.21:0.00,9.10,0.34:0.00,5.72,-0.13:0.00,0.95,0.00:0.00,0.97,0.00:0.00,0.93,0.00:60,60,60:27.1,34.8,164.0:0,0,0:0,0,0:116,54,41:34,97,110:33,30,0:-,NM_001007540.2(CDHR4) c.2138+248T>C:-,0.14:-,NOT_FOUND 3 49830032 rs61745903 C T 220 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.9784,T/0.02157;PC=0.105;Gene=CDHR4/NM_001007540.3/1;CC=c.2007G>A;ProtCh=p.T669=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:135:85:0:0:65,70:2088,2271:0.00,219.90:0.00,95.10:0.00,124.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,39.9:0,0:0,0:67,66:78,83:39,42:-,NM_001007540.2(CDHR4) c.2007G>A (p.(=)):-,0.04:-,0.041174 3 49830044 . C . . NT END=49830286;NT GT ./. 3 49830508 . C . . NT END=49830593;NT GT ./. 3 49830745 . C . . NT END=49831015;NT GT ./. 3 49831156 . C . . NT END=49831235;NT GT ./. 3 49831440 . C . . NT END=49832040;NT GT ./. 3 49832135 . C . . NT END=49832379;NT GT ./. 3 49832261 rs6802890 A G 47 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5988,G/0.4012;Gene=CDHR4/NM_001007540.3/1;CC=c.1185+119T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:23:0:0:17,17:508,493:0.00,47.11:0.00,23.63:0.00,23.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,48.9:0,0:0,0:60,46:90,88:46,31:-,NM_001007540.2(CDHR4) c.1185+119T>C:-,0.38:-,NOT_FOUND 3 49832263 rs116642728 G T 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.9778,T/0.02216;Gene=CDHR4/NM_001007540.3/1;CC=c.1185+117C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:36:25:0:0:19,17:578,484:0.00,45.69:0.00,36.25:0.00,9.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:43.7,35.0:0,0:0,0:47,62:101,88:42,46:-,NM_001007540.2(CDHR4) c.1185+117C>A:-,0.04:-,NOT_FOUND 3 49832534 . C . . NT END=49832628;NT GT ./. 3 49832813 . C . . NT END=49833060;NT GT ./. 3 49833198 . C . . NT END=49833375;NT GT ./. 3 49833480 . C . . NT END=49834354;NT GT ./. 3 49834466 . C . . NT END=49836258;NT GT ./. 3 49834571 rs6809879 A G 35 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8682,G/0.1318;Gene=CDHR4/NM_001007540.3/1;CC=c.496-106T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:1:0:0:9,10:273,355:0.00,34.56:0.00,1.85:0.00,32.71:0.00,1.00:0.00,0.68:0.00,1.00:60,60:2.8,35.5:0,0:0,0:108,105:43,44:21,20:-,NM_001007540.2(CDHR4) c.496-106T>C:-,0.14:-,NOT_FOUND 3 49836351 . C . . NT END=49836426;NT GT ./. 3 49836590 . C . . NT END=49836679;NT GT ./. 3 49836871 . C . . NT END=49837196;NT GT ./. 3 49837246 . G . . NT END=49840819;NT GT ./. 3 49840877 . G . . NT END=49841613;NT GT ./. 3 49842421 . C . . NT END=49842740;NT GT ./. 3 49842625 rs2234391 A G 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.6068,G/0.3932 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:23:0:0:15,16:441,434:0.00,41.66:0.00,29.67:0.00,12.00:0.00,1.00:0.00,1.00:0.00,0.99:60,60:21.7,35.0:0,0:0,0:30,62:120,88:17,54:-,NM_001007540.2(CDHR4) c.-9-u5371T>C:-,0.37:-,NOT_FOUND 3 49842871 . C . . NT END=49843329;NT GT ./. 3 49842881 rs398038715 T TG 73 nt VT=INS;SST=Single;DP=78;DB;DBA=NA;PAF=T/0.5952,TG/0.4048;DB;DBA=NA;PAF=T/0.5952,TG/0.4048;NP=2309;Gene=UBA7/NM_003335.2/1;CC=c.2910-12dupC;VC=Intron;DM=UBA7/E1_UFD;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TG:78:45:25:0:4,49,25:113,1564,815:6.94,0.00,72.86:4.65,0.00,19.43:2.29,0.00,53.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:61.2,3.8,4.4:2,0,0:0,0,0:63,99,101:86,33,46:31,33,35:-,NM_003335.2(UBA7) c.2910-12_2910-11insC:-,0.38:-,0.505591 3 49843431 . C . . NT END=49843505;NT GT ./. 3 49843599 . C . . NT END=49845168;NT GT ./. 3 49843723 rs3819325 T C 24 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.5735,C/0.4265;PC=0.044;Gene=UBA7/NM_003335.2/1;CC=c.2716-125A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:20:2:0:0:11,9:253,263:24.45,0.00:1.64,0.00:22.82,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:84.9,35.1:0,0:0,0:74,86:77,57:19,13:NM_003335.2(UBA7) c.2716-125A>G,-:0.39,-:NOT_FOUND,- 3 49845006 rs58339610 T A 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.8658,A/0.1342;PC=1.000;Gene=UBA7/NM_003335.2/1;CC=c.2715+163A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:21:21:0:0:11,1,9:354,9,278:34.66,0.10,0.00:34.66,0.10,0.00:0.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:0.00,0.00,0.00:60,60,60:54.6,61.0,8.2:0,0,0:0,0,0:53,102,46:98,40,105:23,0,8:NM_003335.2(UBA7) c.2715+163A>T,-:0.14,-:NOT_FOUND,- 3 49845361 . C . . NT END=49845452;NT GT ./. 3 49845546 . C . . NT END=49845818;NT GT ./. 3 49845902 . C . . NT END=49846408;NT GT ./. 3 49846593 . C . . NT END=49846822;NT GT ./. 3 49846898 . C . . NT END=49846974;NT GT ./. 3 49847159 . C . . NT END=49847247;NT GT ./. 3 49847313 . C . . NT END=49847410;NT GT ./. 3 49847617 . C . . NT END=49847695;NT GT ./. 3 49847642 rs1799844 G A 302 nt VT=SNV;PN=A;NN=T;SST=Single;DP=208;DB;DBA=NA;PAF=G/0.9171,A/0.08287;PC=0.001;Gene=UBA7/NM_003335.2/1;CC=c.1634-26C>T;VC=Intron;DM=UBA7/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:208:145:0:0:101,106,1:3164,3579,9:302.20,0.00,-0.19:161.26,0.00,-0.08:140.93,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.3,9.1,67.0:0,0,0:0,0,0:78,78,26:71,70,125:29,32,0:NM_003335.2(UBA7) c.1634-26C>T,-:0.1,-:0.156236,- 3 49847862 . C . . NT END=49847949;NT GT ./. 3 49848106 . C . . NT END=49848184;NT GT ./. 3 49848266 . C . . NT END=49848416;NT GT ./. 3 49848414 rs28535523 C T 76 nt VT=SNV;PN=T;NN=A;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.8712,T/0.1288;PC=1.000;Gene=UBA7/NM_003335.2/1;CC=c.1230+3G>A;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:40:0:0:38,27:1212,820:0.00,75.68:0.00,42.74:0.00,32.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.6,42.3:0,0:0,0:51,48:90,103:27,21:-,NM_003335.2(UBA7) c.1230+3G>A:-,0.14:-,0.201599 3 49848525 . C . . NT END=49848705;NT GT ./. 3 49848889 . C . . NT END=49849302;NT GT ./. 3 49849450 . C . . NT END=49849541;NT GT ./. 3 49849640 . C . . NT END=49849840;NT GT ./. 3 49849848 rs61754209 G A 246 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=157;DB;DBA=NA;PAF=NA;NP=5;Gene=UBA7/NM_003335.2/1;CC=c.687C>T;ProtCh=p.H229=;VC=Silent;DM=UBA7/ThiF;DM=UBA7/E1_FCCH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:157:123:0:0:79,77,1:2551,2453,11:245.91,0.00,-0.12:135.94,0.00,-0.03:109.97,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.3,8.4,62.0:0,0,0:0,0,0:70,65,67:79,80,73:31,30,0:NM_003335.2(UBA7) c.687C>T (p.(=)),-:0.0005,-:0.000461,- 3 49849977 . C . . NT END=49850080;NT GT ./. 3 49850172 . C . . NT END=49850494;NT GT ./. 3 49850602 . C . . NT END=49850681;NT GT ./. 3 49850817 . C . . NT END=49850911;NT GT ./. 3 49851081 . C . . NT END=49851164;NT GT ./. 3 49851221 . C . . NT END=49866535;NT GT ./. 3 49851375 rs111900212 C CCTGGCTCCT 33 nt VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5895,CCTGGCTCCT/0.4105;NP=6;PC=0.001;Gene=UBA7/NM_003335.2/1;CC=c.-156_-155insAGGAGCCAG;VC=5UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CCTGGCTCCT:27:0:11:0:16,11:494,353:0.00,32.63:0.00,0.00:0.00,32.63:0.00,1.00:0.00,0.00:0.00,1.00:60,60:5.0,7.5:0,0:0,0:132,102:19,48:6,20:-,NM_003335.2(UBA7) c.-156_-155insAGGAGCCAG:-,NOT_FOUND:-,NOT_FOUND 3 49866392 rs1128535 C T 63 nt VT=SNV;PN=G;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5819,A/.,T/0.4181;Gene=TRAIP/NM_005879.2/1;CC=c.*144G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G,T:19:19:0:0:1,18:11,550:0.45,63.12:0.45,63.12:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.0,35.4:0,0:0,0:133,37:18,113:0,24:NM_005879.2(TRAIP) c.*144G>A,NM_005879.2(TRAIP) c.*144G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 3 49866584 rs35129566 T G 100 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.8648,G/0.1352;PC=0.009;Gene=TRAIP/NM_005879.2/1;CC=c.1362A>C;ProtCh=p.T454=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:89:68:0:0:36,53:1085,1768:99.51,0.00:63.56,0.00:35.95,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,7.0:0,0:0,0:69,62:79,86:29,29:NM_005879.2(TRAIP) c.1362A>C (p.(=)),-:0.14,-:0.210211,- 3 49866659 . C . . NT END=49866890;NT GT ./. 3 49866942 . C . . NT END=49867049;NT GT ./. 3 49867200 . C . . NT END=49867452;NT GT ./. 3 49867502 . C . . NT END=49869348;NT GT ./. 3 49869158 rs695238 A C 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5819,C/0.4181;Gene=TRAIP/NM_005879.2/1;CC=c.1037+191T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:C:19:19:0:0:19:614:70.42:70.42:0.00:1.00:1.00:0.00:60:43.8:0:0:44:107:25:NM_005879.2(TRAIP) c.1037+191T>G,NM_005879.2(TRAIP) c.1037+191T>G:0.39,0.39:NOT_FOUND,NOT_FOUND 3 49869502 . C . . NT END=49877204;NT GT ./. 3 49869631 rs13085679 G A 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.5771,A/0.4229;PC=0.168;Gene=TRAIP/NM_005879.2/1;CC=c.885-130C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:A,C:24:4:0:0:23,1:591,10:69.32,0.32:7.57,0.00:61.75,0.32:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,129.0:0,0:0,0:109,121:42,30:17,0:NM_005879.2(TRAIP) c.885-130C>T,NM_005879.2(TRAIP) c.885-130C>T:0.41,0.41:NOT_FOUND,NOT_FOUND 3 49877294 . C . . NT END=49877716;NT GT ./. 3 49877807 . C . . NT END=49878417;NT GT ./. 3 49878078 rs2271960 T C 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.6072,C/0.3928;Gene=TRAIP/NM_005879.2/1;CC=c.706-272A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:98:C,T:8:3:0:0:3,5:100,168:9.13,0.00:6.90,0.00:2.23,0.00:0.67,0.00:0.78,0.00:0.90,0.00:60,60:60.0,0.0:0,0:0,0:103,43:48,108:20,16:NM_005879.2(TRAIP) c.706-272A>G,-:0.37,-:NOT_FOUND,- 3 49878113 rs2271961 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5827,C/0.4173;Gene=TRAIP/NM_005879.2/1;CC=c.705+305A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:C,T:10:5:0:0:3,7:99,229:8.68,0.00:2.83,0.00:5.84,0.00:0.62,0.00:0.82,0.00:0.82,0.00:60,60:59.0,13.4:0,0:0,0:109,62:42,89:29,36:NM_005879.2(TRAIP) c.705+305A>G,-:0.39,-:NOT_FOUND,- 3 49878264 rs1996663 C G 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8642,A/.,G/0.1358;PC=0.018;Gene=TRAIP/NM_005879.2/1;CC=c.705+154G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:C,G:6:6:0:0:1,5:32,131:0.00,14.30:0.00,14.30:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,26.2:0,0:0,0:12,76:139,75:0,21:-,NM_005879.2(TRAIP) c.705+154G>C:-,0.14:-,NOT_FOUND 3 49878395 rs1996664 A G 91 nt VT=SNV;PN=A;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.864,G/0.136;Gene=TRAIP/NM_005879.2/1;CC=c.705+23T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:48:0:0:27,28:817,939:0.00,90.71:0.00,69.25:0.00,21.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,44.0:0,0:0,0:25,47:124,104:14,25:-,NM_005879.2(TRAIP) c.705+23T>C:-,0.14:-,0.210211 3 49878506 . C . . NT END=49879258;NT GT ./. 3 49879373 . C . . NT END=49879885;NT GT ./. 3 49879981 . C . . NT END=49881233;NT GT ./. 3 49881134 rs2246832 A T 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.5867,T/0.4133;Gene=TRAIP/NM_005879.2/1;CC=c.408+100T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:44:42:0:0:20,1,23:619,10,710:0.00,0.00,69.04:0.00,0.02,58.99:0.00,-0.02,10.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:2.8,93.0,32.8:0,0,0:0,0,0:54,148,48:95,2,103:35,0,34:-,NM_005879.2(TRAIP) c.408+100T>A:-,0.41:-,NOT_FOUND 3 49881362 . C . . NT END=49881973;NT GT ./. 3 49882014 . C . . NT END=49884957;NT GT ./. 3 49885042 . C . . NT END=49885575;NT GT ./. 3 49885634 . C . . NT END=49893788;NT GT ./. 3 49893887 . G . . NT END=49896750;NT GT ./. 3 49897315 . C . . NT END=49897603;NT GT ./. 3 49897692 . C . . NT END=49897903;NT GT ./. 3 49897983 . C . . NT END=49898148;NT GT ./. 3 49898286 . C . . NT END=49898375;NT GT ./. 3 49898452 . C . . NT END=49898612;NT GT ./. 3 49898734 . C . . NT END=49898871;NT GT ./. 3 49899011 . C . . NT END=49899223;NT GT ./. 3 49899299 . C . . NT END=49899477;NT GT ./. 3 49899610 . C . . NT END=49899726;NT GT ./. 3 49899822 . T . . NT END=49924744;NT GT ./. 3 49924996 . C . . NT END=49927356;NT GT ./. 3 49927494 . C . . NT END=49927917;NT GT ./. 3 49928084 . C . . NT END=49928629;NT GT ./. 3 49928162 rs373581213 AT A 18 idl,rn VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=NA;NP=6;PC=0.094;Gene=MST1R/NM_001244937.1/0;CC=c.3498-80delA;VC=Intron;Gene=MST1R/NM_002447.2/1;CC=c.3645-80delA;VC=Intron;DM=MST1R/Pkinase_Tyr;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:AT,C,T,I,A:43:10:2:10:32,1,1,1,8:989,11,10,57,300:0.00,-0.07,-0.11,1.71,18.39:0.00,-0.04,-0.04,-0.04,3.55:0.00,-0.02,-0.07,1.76,14.84:0.00,0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.00,0.80:0.00,0.00,0.00,0.00,1.00:60,60,48,60,70:12.3,20.0,176.0,47.0,6.6:0,0,0,1,2:0,0,0,0,0:118,134,77,124,99:33,17,47,26,40:18,0,0,2,28:-,NM_002447.2(MST1R) c.3645-80delA:-,NOT_FOUND:-,NOT_FOUND 3 49928691 rs7433231 T C 291 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;NP=3478;PC=1.000;Gene=MST1R/NM_001244937.1/0;CC=c.3436A>G;ProtCh=p.S1146G;VC=Missense;Gene=MST1R/NM_002447.2/1;CC=c.3583A>G;ProtCh=p.S1195G;VC=Missense;DM=MST1R/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:81:71:0:0:81:2524:290.80:208.17:82.63:1.00:1.00:1.00:60:40.6:0:0:72:75:31:NM_002447.2(MST1R) c.=,NM_002447.2(MST1R) c.=:1,1:NOT_FOUND,NOT_FOUND 3 49928740 . C . . NT END=49928831;NT GT ./. 3 49929014 . C . . NT END=49929190;NT GT ./. 3 49929272 . C . . NT END=49932599;NT GT ./. 3 49932807 . C . . NT END=49932879;NT GT ./. 3 49932982 . C . . NT END=49933147;NT GT ./. 3 49933314 . C . . NT END=49933393;NT GT ./. 3 49933541 . C . . NT END=49933627;NT GT ./. 3 49933841 . C . . NT END=49933972;NT GT ./. 3 49934067 . C . . NT END=49934161;NT GT ./. 3 49934324 . C . . NT END=49934712;NT GT ./. 3 49934850 . C . . NT END=49934952;NT GT ./. 3 49935119 . C . . NT END=49935483;NT GT ./. 3 49935540 rs368225168 C A 175 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=121;DB;DBA=NA;PAF=NA;PC=0.001;Gene=MST1R/NM_001244937.1/0;CC=c.1824G>T;ProtCh=p.Q608H;VC=Missense;Gene=MST1R/NM_002447.2/1;CC=c.1824G>T;ProtCh=p.Q608H;VC=Missense;DM=MST1R/TIG;DM=MST1R/TIG GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:121:92:0:0:55,66:1848,2160:174.86,0.00:89.39,0.00:85.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,11.4:0,0:0,0:82,64:67,87:37,33:NM_002447.2(MST1R) c.1824G>T (p.Gln608His),-:NOT_FOUND,-:0.000154,- 3 49935645 . C . . NT END=49935950;NT GT ./. 3 49936122 . C . . NT END=49936299;NT GT ./. 3 49936429 . C . . NT END=49936507;NT GT ./. 3 49936697 . C . . NT END=49939812;NT GT ./. 3 49941048 . C . . NT END=49946446;NT GT ./. 3 49946588 . C . . NT END=49946685;NT GT ./. 3 49946834 . C . . NT END=49947551;NT GT ./. 3 49948318 . C . . NT END=49948958;NT GT ./. 3 49949445 . C . . NT END=49950652;NT GT ./. 3 49950793 . C . . NT END=49967041;NT GT ./. 3 49967320 . T . . NT END=50000074;NT GT ./. 3 50000119 . G . . NT END=50004630;NT GT ./. 3 50004793 . CA C 12 rn VT=DEL;SST=Single;DP=72;NP=6;PC=1.000;Gene=RBM6/NM_001167582.1/0;CC=c.-10+4685delA;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.45-100delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,CA,I,C:71:42:3:6:2,61,2,6:38,1844,99,183:1.17,0.00,3.60,12.40:-0.40,0.00,1.73,6.29:1.57,0.00,1.87,6.11:0.00,0.00,0.00,0.79:0.00,0.00,0.00,0.91:0.00,0.00,0.00,0.90:60,60,60,70:168.5,7.5,9.0,9.7:0,0,1,0:0,0,0,0:97,62,49,83:45,88,101,67:1,34,19,9:-,NM_005777.2(RBM6) c.45-109delA:-,NOT_FOUND:-,NOT_FOUND 3 50006182 . G . . NT END=50009491;NT GT ./. 3 50006203 . C T 7 sb;idl,nt VT=SNV;PN=G;NN=T;SST=Single;DP=38;NP=1;PC=0.095;Gene=RBM6/NM_001167582.1/0;CC=c.-10+6085C>T;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.1323+22C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,T,D:35:15:0:9:25,7,3:750,111,170:0.00,7.19,5.15:0.00,-1.01,-0.41:0.00,8.21,5.56:0.00,0.94,0.00:0.00,0.91,0.00:0.00,0.99,0.00:60,60,60:17.0,92.0,80.0:0,2,3:0,0,0:140,109,45:11,35,105:8,11,10:-,NM_005777.2(RBM6) c.1323+22C>T:-,NOT_FOUND:-,NOT_FOUND 3 50009582 . G . . NT END=50012755;NT GT ./. 3 50012826 . G . . NT END=50036872;NT GT ./. 3 50036947 . G . . NT END=50084592;NT GT ./. 3 50084760 . G . . NT END=50085677;NT GT ./. 3 50085753 . G . . NT END=50091767;NT GT ./. 3 50091829 . G . . NT END=50095160;NT GT ./. 3 50095020 . CA C,CAAAA 7 idl,nt VT=INS;SST=Single;DP=6;PC=0.001;DM=RBM6/RRM_6;DM=RBM6/RRM_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:40:CA,CAAAA,C:5:6:3:2:1,2,2:25,94,63:0.00,6.52,6.12:0.00,6.52,6.12:0.00,0.00,0.00:0.00,0.42,0.00:0.00,0.42,0.00:0.00,0.00,0.00:60,60,60:10.0,70.0,21.5:0,1,0:0,0,0:124,34,51:23,108,81:0,32,33:NM_005777.2(RBM6) c.1694-140delA,NM_005777.2(RBM6) c.1694-140A[4]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 50095103 rs547189010 CT C 30 idl,rn VT=DEL;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=59;Gene=RBM6/NM_001167582.1/0;CC=c.128-43delT;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.1694-43delT;VC=Intron;DM=RBM6/RRM_6;DM=RBM6/RRM_6;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:41:40:3:14:25,2,3,11:812,20,90,433:0.00,0.20,6.17,30.11:0.00,-0.22,4.91,20.32:0.00,0.41,1.26,9.79:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.94:60,60,60,60:62.0,83.0,79.3,39.0:0,0,0,3:0,0,0,0:29,67,11,44:105,63,113,103:20,19,4,16:-,NM_005777.2(RBM6) c.1694-57delT:-,NOT_FOUND:-,NOT_FOUND 3 50095437 . G . . NT END=50095834;NT GT ./. 3 50095996 . G . . NT END=50097081;NT GT ./. 3 50097180 . G . . NT END=50098388;NT GT ./. 3 50097319 rs2245365 C A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.4111,A/0.5889;PC=0.001;Gene=RBM6/NM_001167582.1/0;CC=c.662+140C>A;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.2228+140C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:0:0:0:8:256:29.41:0.00:29.41:1.00:0.00:1.00:60:40.5:0:0:86:65:33:NM_005777.2(RBM6) c.2228+140C>A,NM_005777.2(RBM6) c.2228+140C>A:0.58,0.58:NOT_FOUND,NOT_FOUND 3 50098112 rs2624815 A G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2568,G/0.7432;Gene=RBM6/NM_001167582.1/0;CC=c.663-277A>G;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.2229-277A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:147:17.54:17.54:0.00:1.00:1.00:0.00:60:34.8:0:0:58:91:5:NM_005777.2(RBM6) c.2229-277A>G,NM_005777.2(RBM6) c.2229-277A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 3 50098186 rs35467618 C CA 12 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=4;Gene=RBM6/NM_001167582.1/0;CC=c.663-180_663-179insA;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.2229-180_2229-179insA;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:C,CA,D:10:10:4:1:5,4,1:153,131,30:0.00,12.31,2.25:0.00,12.31,2.25:0.00,0.00,0.00:0.00,0.84,0.00:0.00,0.84,0.00:0.00,0.00,0.00:60,60,60:37.0,18.5,12.0:0,0,0:0,0,0:136,43,20:14,107,130:3,27,0:-,NM_005777.2(RBM6) c.2229-203_2229-202insA:-,NOT_FOUND:-,NOT_FOUND 3 50098432 . G . . NT END=50098572;NT GT ./. 3 50098655 . G . . NT END=50098894;NT GT ./. 3 50098981 . G . . NT END=50099394;NT GT ./. 3 50099542 . G . . NT END=50102463;NT GT ./. 3 50102446 rs115669815 T C 69 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.9523,C/0.04772;PC=0.467;Gene=RBM6/NM_001167582.1/0;CC=c.1021-18T>C;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.2587-18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:C,T:25:18:0:0:20,5:654,165:69.46,0.00:43.26,0.00:26.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.4,0.0:0,0:0,0:63,23:81,101:21,17:NM_005777.2(RBM6) c.2587-18T>C,-:0.04,-:0.045748,- 3 50102560 . G . . NT END=50103674;NT GT ./. 3 50103936 . G . . NT END=50106122;NT GT ./. 3 50106198 . G . . NT END=50107887;NT GT ./. 3 50107986 . G . . NT END=50112633;NT GT ./. 3 50112589 rs376657561 CA C 12 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=26;PC=0.001;Gene=RBM6/NM_001167582.1/0;CC=c.1551-30delA;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.3117-30delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:49:A,CA,T,I,C:43:40:5:7:2,31,1,4,5:37,948,24,141,198:1.64,0.00,0.94,8.26,12.43:1.55,0.00,-0.24,6.24,7.07:0.09,0.00,1.18,2.02,5.37:0.00,0.00,0.00,0.00,0.74:0.00,0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.00,0.79:60,60,60,60,60:103.5,12.4,87.0,25.5,6.8:0,0,0,1,1:0,0,0,0,0:30,56,31,74,49:96,86,120,77,101:30,32,0,24,17:-,NM_005777.2(RBM6) c.3117-44delA:-,NOT_FOUND:-,NOT_FOUND 3 50112764 . G . . NT END=50114440;NT GT ./. 3 50113004 rs2240328 T C 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.09824,C/0.9018;Gene=RBM6/NM_001167582.1/0;CC=c.1680+241T>C;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.3246+241T>C;VC=Intron;DM=RBM6/G-patch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:255:29.77:0.00:29.77:1.00:0.00:1.00:60:52.2:0:0:114:37:15:NM_005777.2(RBM6) c.3246+241T>C,NM_005777.2(RBM6) c.3246+241T>C:0.89,0.89:NOT_FOUND,NOT_FOUND 3 50113034 rs2240327 A G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4079,G/0.5921;Gene=RBM6/NM_001167582.1/0;CC=c.1680+271A>G;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.3246+271A>G;VC=Intron;DM=RBM6/G-patch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:181:20.96:0.00:20.96:1.00:0.00:1.00:60:60.0:0:0:140:10:5:NM_005777.2(RBM6) c.3246+271A>G,NM_005777.2(RBM6) c.3246+271A>G:0.58,0.58:NOT_FOUND,NOT_FOUND 3 50114315 rs199553129 TA T 14 idl,rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=5;Gene=RBM6/NM_001167582.1/0;CC=c.1681-110delA;VC=Intron;Gene=RBM6/NM_005777.2/1;CC=c.3247-110delA;VC=Intron;DM=RBM6/G-patch;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:145:TA,I,T:19:21:2:8:13,1,5:426,66,256:0.00,2.16,14.19:0.00,2.20,14.40:0.00,-0.04,-0.21:0.00,0.00,0.84:0.00,0.00,0.98:0.00,0.00,0.74:60,60,60:9.8,11.0,8.4:0,1,3:0,0,0:67,115,32:84,35,118:34,0,21:-,NM_005777.2(RBM6) c.3247-125delA:-,NOT_FOUND:-,NOT_FOUND 3 50114515 rs7061 C T 223 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.253,T/0.747;PC=1.000;Gene=RBM6/NM_001167582.1/0;CC=c.1755C>T;ProtCh=p.Y585=;VC=Silent;Gene=RBM6/NM_005777.2/1;CC=c.3321C>T;ProtCh=p.Y1107=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:T:61:34:0:0:61:1944:223.42:89.80:133.62:1.00:1.00:1.00:60:41.8:0:0:89:62:35:NM_005777.2(RBM6) c.3321C>T (p.(=)),NM_005777.2(RBM6) c.3321C>T (p.(=)):0.72,0.72:0.621175,0.621175 3 50114567 . G . . NT END=50127867;NT GT ./. 3 50127885 . G . . NT END=50129475;NT GT ./. 3 50129374 . T TA 79 nt VT=INS;SST=Single;DP=22;NP=3069;Gene=RBM5/NM_005778.3/1;CC=c.18-102_18-101insA;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:TA:22:22:22:0:22:685:78.99:73.92:5.06:1.00:1.00:1.00:60:38.9:0:0:34:115:30:NM_005778.3(RBM5) c.18-102_18-101insA,NM_005778.3(RBM5) c.18-102_18-101insA:0.96,0.96:NOT_FOUND,NOT_FOUND 3 50129399 rs2013208 C T 104 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.3269,T/0.6731;Gene=RBM5/NM_005778.3/1;CC=c.18-77C>T;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:T:28:27:0:0:28:906:103.92:88.96:14.96:1.00:1.00:1.00:60:43.8:0:0:33:117:18:NM_005778.3(RBM5) c.18-77C>T,NM_005778.3(RBM5) c.18-77C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 3 50129642 . G . . NT END=50131152;NT GT ./. 3 50131309 . G . . NT END=50137414;NT GT ./. 3 50131459 rs11130241 A T 79 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4199,T/0.5801;PC=0.104;Gene=RBM5/NM_005778.3/1;CC=c.339+151A>T;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding;DM=RBM5/RRM_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T:21:0:0:0:21:688:78.81:0.00:78.81:1.00:0.00:1.00:60:47.0:0:0:99:51:30:NM_005778.3(RBM5) c.339+151A>T,NM_005778.3(RBM5) c.339+151A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 50137307 . T TA 7 rn VT=INS;SST=Single;DP=21;NP=2;Gene=RBM5/NM_005778.3/1;CC=c.340-94_340-93insA;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding;Gene=RBM5-AS1/NR_045388.1/0;VC=NonCoding;DM=RBM5/RRM_6;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,T,TA,D:21:21:3:1:1,16,3,1:32,472,91,31:2.02,0.00,6.93,1.92:2.04,0.00,5.53,1.94:-0.02,0.00,1.40,-0.02:0.00,0.00,0.49,0.00:0.00,0.00,0.49,0.00:0.00,0.00,0.42,0.00:60,60,60,60:32.0,21.9,8.0,0.0:0,0,0,0:0,0,0,0:0,23,14,2:151,125,115,149:0,20,12,0:-,NR_045388.1(LUST) n.1114dupT:-,NOT_FOUND:-,NOT_FOUND 3 50137485 . G . . NT END=50137964;NT GT ./. 3 50138039 . G . . NT END=50140515;NT GT ./. 3 50140600 . G . . NT END=50141680;NT GT ./. 3 50141742 . G . . NT END=50142509;NT GT ./. 3 50142576 . G . . NT END=50142981;NT GT ./. 3 50142739 rs77605143 C CA 16 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;PC=0.082;Gene=RBM5/NM_005778.3/1;CC=c.694+179dupA;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,CA,D:10:7:6:1:4,5,1:115,183,33:0.00,15.53,2.57:0.00,9.58,2.65:0.00,5.95,-0.08:0.00,0.93,0.00:0.00,0.98,0.00:0.00,0.91,0.00:60,60,60:11.0,11.6,0.0:0,1,0:0,0,0:67,31,66:83,119,85:17,9,0:-,NM_005778.3(RBM5) c.694+164_694+165insA:-,NOT_FOUND:-,NOT_FOUND 3 50143143 . G . . NT END=50144199;NT GT ./. 3 50144298 . G . . NT END=50144914;NT GT ./. 3 50144951 rs1061474 T C 123 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.2526,C/0.7474;PC=0.969;Gene=RBM5/NM_005778.3/1;CC=c.990T>C;ProtCh=p.A330=;VC=Silent;Gene=RBM5/NR_036627.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:C:34:21:0:0:34:1069:123.05:55.26:67.79:1.00:1.00:1.00:60:38.0:0:0:67:73:30:NM_005778.3(RBM5) c.990T>C (p.(=)),NM_005778.3(RBM5) c.990T>C (p.(=)):0.72,0.72:0.620944,0.620944 3 50145003 . G . . NT END=50145502;NT GT ./. 3 50145581 . G . . NT END=50145664;NT GT ./. 3 50145738 . G . . NT END=50147035;NT GT ./. 3 50147122 . G . . NT END=50147811;NT GT ./. 3 50147897 . G . . NT END=50148111;NT GT ./. 3 50148204 . G . . NT END=50150815;NT GT ./. 3 50148305 rs2301166 C G 51 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.367,G/0.633;PC=0.018;Gene=RBM5/NM_005778.3/1;CC=c.1455+102C>G;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:0:0:0:14:447:51.36:0.00:51.36:1.00:0.00:1.00:60:37.1:0:0:94:56:32:NM_005778.3(RBM5) c.1455+102C>G,NM_005778.3(RBM5) c.1455+102C>G:0.62,0.62:NOT_FOUND,NOT_FOUND 3 50150978 . G . . NT END=50151382;NT GT ./. 3 50151533 . G . . NT END=50151612;NT GT ./. 3 50151685 . G . . NT END=50152860;NT GT ./. 3 50153041 . G . . NT END=50153338;NT GT ./. 3 50153356 rs1138536 T C 109 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.2526,C/0.7474;PC=0.994;Gene=RBM5/NM_005778.3/1;CC=c.2037T>C;ProtCh=p.Y679=;VC=Silent;Gene=RBM5/NR_036627.2/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:C,T:32:24:0:0:31,1:959,34:108.63,0.00:55.13,0.00:53.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,66.0:0,0:0,0:61,79:77,71:26,0:NM_005778.3(RBM5) c.2037T>C (p.(=)),NM_005778.3(RBM5) c.2037T>C (p.(=)):0.72,0.72:0.621252,0.621252 3 50153414 . G . . NT END=50154506;NT GT ./. 3 50154605 . G . . NT END=50154682;NT GT ./. 3 50154813 . G . . NT END=50155763;NT GT ./. 3 50154989 rs2624825 G A 88 nt VT=SNV;PN=T;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.363,A/0.637;PC=0.001;Gene=RBM5/NM_005778.3/1;CC=c.2322+177G>A;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding;DM=RBM5/G-patch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:0:0:0:23:766:87.56:0.00:87.56:1.00:0.00:1.00:60:45.2:0:0:76:74:37:XR_110008.2(LOC100129060) n.1221C>T,XR_110008.2(LOC100129060) n.1221C>T:0.62,0.62:NOT_FOUND,NOT_FOUND 3 50155468 rs2624826 T G 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2526,G/0.7474;PC=0.007;Gene=RBM5/NM_005778.3/1;CC=c.2323-296T>G;VC=Intron;Gene=RBM5/NR_036627.2/0;VC=NonCoding;DM=RBM5/G-patch GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:44.2:0:0:49:102:36:XR_110008.2(LOC100129060) n.742A>C,XR_110008.2(LOC100129060) n.742A>C:0.72,0.72:NOT_FOUND,NOT_FOUND 3 50155887 rs112672304 TGA T 48 idl,rn VT=DEL;SST=Single;DP=76;DB;DBA=NA;PAF=NA;NP=154;PC=1.000;Gene=RBM5/NM_005778.3/1;CC=c.*19_*20delGA;ProtCh=p.D823*;VC=FrameShiftDel;Gene=RBM5/NR_036627.2/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGA,I,T:74:45:1:20:55,1,18:1653,33,633:0.00,1.58,48.40:0.00,-0.12,20.67:0.00,1.70,27.73:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:12.0,0.0,6.2:0,0,2:0,0,0:96,115,64:49,35,77:30,0,23:-,NM_005778.3(RBM5) c.2447_*20delGAGAGAGAGAGAGAGAGAGAGAinsGAGAGAGAGAGAGAGAGAGA (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 50155890 . g . . NT END=50197055;NT GT ./. 3 50161717 rs2856236 A C 13 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3161,C/0.6839 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:115:13.40:0.00:13.40:1.00:0.00:1.00:60:31.5:0:0:53:91:16:XR_110008.2(LOC100129060) n.465-1696T>G,XR_110008.2(LOC100129060) n.465-1696T>G:0.63,0.63:NOT_FOUND,NOT_FOUND 3 50197097 rs1046953 C T 54 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.6248,T/0.3752;PC=0.682;Gene=SEMA3F/NM_004186.3/1;CC=c.42C>T;ProtCh=p.T14=;VC=Silent;DM=SEMA3F/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:24:0:0:17,17:515,565:0.00,54.41:0.00,23.42:0.00,30.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,34.0:0,0:0,0:55,69:94,79:30,15:-,NM_004186.3(SEMA3F) c.42C>T (p.(=)):-,0.33:-,0.382977 3 50197168 . G . . NT END=50211225;NT GT ./. 3 50211387 . G . . NT END=50211484;NT GT ./. 3 50211548 . G . . NT END=50211663;NT GT ./. 3 50211784 . G . . NT END=50212528;NT GT ./. 3 50212622 . G . . NT END=50214200;NT GT ./. 3 50214295 . G . . NT END=50219716;NT GT ./. 3 50219837 . G . . NT END=50220076;NT GT ./. 3 50220217 . G . . NT END=50220336;NT GT ./. 3 50220452 . G . . NT END=50220618;NT GT ./. 3 50220689 . G . . NT END=50220852;NT GT ./. 3 50220998 . G . . NT END=50222024;NT GT ./. 3 50222248 . G . . NT END=50222875;NT GT ./. 3 50222926 rs1046956 T A 284 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.234,A/0.766;PC=0.905;Gene=SEMA3F/NM_004186.3/1;CC=c.1507T>A;ProtCh=p.L503M;VC=Missense;DM=SEMA3F/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:81:61:0:0:79,1,1:2488,9,10:284.19,0.09,0.00:146.13,0.09,0.00:138.06,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.9,191.0,235.0:0,0,0:0,0,0:74,140,118:73,11,22:28,0,0:NM_004186.3(SEMA3F) c.1507T>A (p.Leu503Met),NM_004186.3(SEMA3F) c.1507T>A (p.Leu503Met):0.76,0.76:0.633784,0.633784 3 50222965 . G . . NT END=50223098;NT GT ./. 3 50223141 . G . . NT END=50223321;NT GT ./. 3 50223480 . G . . NT END=50223713;NT GT ./. 3 50223593 rs2073726 T A 103 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.5978,A/0.4022;Gene=SEMA3F/NM_004186.3/1;CC=c.1745+114T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:A,T:31:12:0:0:30,1:902,9:102.90,0.00:35.23,0.00:67.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.7,47.0:0,0:0,0:70,66:80,85:41,0:NM_004186.3(SEMA3F) c.1745+114T>A,NM_004186.3(SEMA3F) c.1745+114T>A:0.37,0.37:NOT_FOUND,NOT_FOUND 3 50223782 . G . . NT END=50224045;NT GT ./. 3 50223977 rs11717349 C T 242 nt VT=SNV;PN=C;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.598,T/0.402;Gene=SEMA3F/NM_004186.3/1;CC=c.1814-69C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:186:T:65:52:0:0:65:2110:241.87:155.43:86.43:1.00:1.00:1.00:60:41.0:0:0:57:87:30:NM_004186.3(SEMA3F) c.1814-69C>T,NM_004186.3(SEMA3F) c.1814-69C>T:0.37,0.37:NOT_FOUND,NOT_FOUND 3 50224180 . G . . NT END=50225137;NT GT ./. 3 50224225 rs12632110 A G 229 nt VT=SNV;PN=C;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.4044,G/0.5956;Gene=SEMA3F/NM_004186.3/1;CC=c.1947+46A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:G:60:28:0:0:60:2004:228.96:58.49:170.48:1.00:1.00:1.00:60:41.0:0:0:101:46:25:NM_004186.3(SEMA3F) c.1947+46A>G,NM_004186.3(SEMA3F) c.1947+46A>G:0.56,0.56:0.621748,0.621748 3 50225029 rs11711407 A G 109 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.594,G/0.406;Gene=SEMA3F/NM_004186.3/1;CC=c.1948-109A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:34:32:0:0:34:933:109.02:97.09:11.93:1.00:1.00:1.00:60:31.9:0:0:29:121:18:NM_004186.3(SEMA3F) c.1948-109A>G,NM_004186.3(SEMA3F) c.1948-109A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 3 50225549 . G . . NT END=50229158;NT GT ./. 3 50225607 rs59949761 G GAT 21 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5325,GAT/0.4675;DB;DBA=NA;PAF=G/0.5325,GAT/0.4675,GATAT/.,GATATAT/.,GATATATAT/.;NP=75;NP=8;PC=1.000;Gene=SEMA3F/NM_004186.3/1;CC=c.*84_*85insTA;VC=3UTR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GAT:24:10:10:0:16,8:534,302:0.00,21.37:0.00,7.34:0.00,14.02:0.00,0.98:0.00,0.95:0.00,1.00:60,70:12.3,32.9:0,2:0,0:139,107:9,44:7,10:-,NM_004186.3(SEMA3F) c.*83_*84dupTA:-,NOT_FOUND:-,NOT_FOUND 3 50229265 . G . . NT END=50230565;NT GT ./. 3 50230609 . G . . NT END=50230697;NT GT ./. 3 50230840 . G . . NT END=50230938;NT GT ./. 3 50231097 . G . . NT END=50231185;NT GT ./. 3 50231315 . G . . NT END=50231524;NT GT ./. 3 50231655 . G . . NT END=50231933;NT GT ./. 3 50232088 . G . . NT END=50232197;NT GT ./. 3 50232389 . G . . NT END=50251632;NT GT ./. 3 50251734 . G . . NT END=50251833;NT GT ./. 3 50251833 rs5848902 A AG 295 PASS VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3015;PC=1.000;Gene=SLC38A3/NM_006841.5/1;CC=c.103dupG;ProtCh=p.V35Gfs*27;VC=FrameShiftIns;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:177:A,G,AG:86:52:83:0:2,1,83:61,31,2600:0.00,1.66,295.34:0.00,-0.01,145.31:0.00,1.66,150.03:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:17.0,31.0,7.5:0,0,0:0,0,0:147,0,52:3,151,90:0,0,30:NM_006841.4(SLC38A3) c.102-1_102insG (p.Val35Glyfs*27),NM_006841.4(SLC38A3) c.102-1_102insG (p.Val35Glyfs*27):1,1:0.998403,0.998403 3 50251916 . G . . NT END=50252084;NT GT ./. 3 50252201 . G . . NT END=50252817;NT GT ./. 3 50252892 . G . . NT END=50252975;NT GT ./. 3 50253069 . G . . NT END=50253171;NT GT ./. 3 50253254 . G . . NT END=50254669;NT GT ./. 3 50254753 . G . . NT END=50254846;NT GT ./. 3 50254906 . G . . NT END=50255107;NT GT ./. 3 50255273 . G . . NT END=50255348;NT GT ./. 3 50255429 . G . . NT END=50255701;NT GT ./. 3 50255663 rs35926495 C T 68 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.8407,T/0.1593;PC=0.001;Gene=SLC38A3/NM_006841.5/1;CC=c.936-39C>T;VC=Intron;DM=SLC38A3/Aa_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:31:0:0:18,22:593,695:0.00,68.03:0.00,43.70:0.00,24.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,88.0:0,0:0,0:82,76:68,74:40,44:-,NM_006841.4(SLC38A3) c.936-39C>T:-,0.18:-,0.275328 3 50255666 rs56048629 C T 61 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.8407,T/0.1593;Gene=SLC38A3/NM_006841.5/1;CC=c.936-36C>T;VC=Intron;DM=SLC38A3/Aa_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:40:31:0:0:18,22:587,629:0.00,61.34:0.00,39.40:0.00,21.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:19.9,81.9:0,0:0,0:99,53:51,97:38,36:-,NM_006841.4(SLC38A3) c.936-36C>T:-,0.18:-,0.275565 3 50255803 . G . . NT END=50256024;NT GT ./. 3 50256150 . G . . NT END=50256235;NT GT ./. 3 50256381 . G . . NT END=50257312;NT GT ./. 3 50257417 . G . . NT END=50257504;NT GT ./. 3 50257610 . G . . NT END=50264555;NT GT ./. 3 50264626 . G . . NT END=50268207;NT GT ./. 3 50268431 . g . . NT END=50273646;NT GT ./. 3 50273886 . G . . NT END=50284325;NT GT ./. 3 50284410 . A . . NT END=50288757;NT GT ./. 3 50289176 . G . . NT END=50289531;NT GT ./. 3 50289575 . G . . NT END=50289828;NT GT ./. 3 50289971 . G . . NT END=50290455;NT GT ./. 3 50290617 . G . . NT END=50293623;NT GT ./. 3 50293753 . G . . NT END=50294154;NT GT ./. 3 50294285 . G . . NT END=50294368;NT GT ./. 3 50294523 . G . . NT END=50294931;NT GT ./. 3 50295123 . G . . NT END=50306672;NT GT ./. 3 50306752 . G GC 310 PASS VT=INS;SST=Single;DP=100;NP=339;PC=0.216;Gene=SEMA3B/NM_001005914.2/0;CC=c.85dupC;ProtCh=p.H29Pfs*721;VC=FrameShiftIns;Gene=SEMA3B/NM_004636.3/1;CC=c.85dupC;ProtCh=p.H29Pfs*722;VC=FrameShiftIns;Gene=SEMA3B/NM_001290060.1/0;CC=c.85dupC;ProtCh=p.H29Pfs*722;VC=FrameShiftIns;Gene=SEMA3B/NM_001290061.1/0;CC=c.85dupC;ProtCh=p.H29Pfs*727;VC=FrameShiftIns;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:G,GC:100:66:91:0:9,91:280,2796:0.00,309.89:0.00,150.44:0.00,159.45:0.00,1.00:0.00,1.00:0.00,1.00:60,70:37.0,9.3:1,0:0,0:136,92:6,57:11,22:-,NM_004636.2(SEMA3B) c.=:-,1:-,0.989803 3 50306782 . T . . NT END=50307557;NT GT ./. 3 50307716 . G . . NT END=50307863;NT GT ./. 3 50307927 . G . . NT END=50308320;NT GT ./. 3 50308441 . G . . NT END=50308518;NT GT ./. 3 50308613 . G . . NT END=50308791;NT GT ./. 3 50308718 rs4688739 A G 199 nt VT=SNV;PN=C;NN=C;SST=Single;DP=121;DB;DBA=NA;PAF=A/0.03115,G/0.9688;Gene=SEMA3B/NM_001005914.2/0;CC=c.544-74A>G;VC=Intron;Gene=SEMA3B/NM_004636.3/1;CC=c.544-74A>G;VC=Intron;Gene=SEMA3B/NM_001290060.1/0;CC=c.544-74A>G;VC=Intron;Gene=SEMA3B/NM_001290061.1/0;CC=c.544-74A>G;VC=Intron;DM=SEMA3B/Sema GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:121:86:0:0:53,2,66:1574,21,2032:0.00,-0.04,199.11:0.00,-0.20,124.44:0.00,0.16,74.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.6,56.0,40.6:0,0,0:0,0,0:60,60,43:83,79,106:41,15,29:-,NM_004636.2(SEMA3B) c.545-74A>G:-,0.95:-,NOT_FOUND 3 50308912 . G . . NT END=50310728;NT GT ./. 3 50310875 . G . . NT END=50310965;NT GT ./. 3 50311078 . G . . NT END=50311189;NT GT ./. 3 50311260 . G . . NT END=50311343;NT GT ./. 3 50311489 . G . . NT END=50311793;NT GT ./. 3 50312014 . G . . NT END=50312273;NT GT ./. 3 50312366 . G . . NT END=50312442;NT GT ./. 3 50312485 . G . . NT END=50312732;NT GT ./. 3 50312891 . G . . NT END=50312990;NT GT ./. 3 50313047 . G . . NT END=50313135;NT GT ./. 3 50313276 . G . . NT END=50313732;NT GT ./. 3 50314138 . C . . NT END=50316544;NT GT ./. 3 50316603 . G . . NT END=50323821;NT GT ./. 3 50324016 . G . . NT END=50324104;NT GT ./. 3 50324294 . G . . NT END=50324499;NT GT ./. 3 50324634 . G . . NT END=50325621;NT GT ./. 3 50325703 . C . . NT END=50325839;NT GT ./. 3 50325936 . C . . NT END=50326013;NT GT ./. 3 50326143 . C . . NT END=50326230;NT GT ./. 3 50326369 . C . . NT END=50326685;NT GT ./. 3 50326792 . C . . NT END=50326877;NT GT ./. 3 50327060 . C . . NT END=50327142;NT GT ./. 3 50327194 . C . . NT END=50327359;NT GT ./. 3 50327518 . C . . NT END=50327600;NT GT ./. 3 50327726 . C . . NT END=50327818;NT GT ./. 3 50327904 . C . . NT END=50327990;NT GT ./. 3 50328111 . C . . NT END=50329647;NT GT ./. 3 50329826 rs1076872 A G 239 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=179;DB;DBA=NA;PAF=A/0.228,C/.,G/0.772;PC=0.002;Gene=IFRD2/NM_006764.4/1;CC=c.72T>C;ProtCh=p.R24=;VC=Silent;DM=IFRD2/IFRD;DM=IFRD2/IFRD_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:179:113:0:0:98,81:3046,2536:0.00,238.59:0.00,126.99:0.00,111.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,37.5:0,0:0,0:86,65:54,85:35,33:-,NM_006764.4(IFRD2) c.72T>C (p.(=)):-,0.78:-,0.772092 3 50330279 . C . . NT END=50330323;NT GT ./. 3 50330350 . C . . NT END=50330676;NT GT ./. 3 50330947 . C . . NT END=50331062;NT GT ./. 3 50331153 . C . . NT END=50332139;NT GT ./. 3 50332697 rs13100173 G A 205 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=149;DB;DBA=NA;PAF=G/0.755,A/0.245;PC=0.269;Gene=HYAL3/NM_001200029.1/1;CC=c.337C>T;ProtCh=p.H113Y;VC=Missense;Gene=HYAL3/NM_001200030.1/0;CC=c.337C>T;ProtCh=p.H113Y;VC=Missense;Gene=HYAL3/NM_001200031.1/0;CC=c.3-413C>T;VC=Intron;Gene=HYAL3/NM_001200032.1/0;CC=c.3-413C>T;VC=Intron;Gene=HYAL3/NM_003549.3/0;CC=c.337C>T;ProtCh=p.H113Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:149:91:0:0:66,83:2182,2735:205.20,0.00:93.95,0.00:111.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,3.7:0,0:0,0:65,82:84,65:33,32:NM_003549.3(HYAL3) c.337C>T (p.His113Tyr),-:0.27,-:0.37598,- 3 50333051 . C . . NT END=50334033;NT GT ./. 3 50335515 . C . . NT END=50336251;NT GT ./. 3 50336638 . A . . NT END=50336643;NT GT ./. 3 50336646 . G . . NT END=50337913;NT GT ./. 3 50337032 rs34136796 C A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8341,A/0.1659;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,C:5:0:0:0:3,2:96,67:9.57,0.00:0.00,0.00:9.57,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:42.7,17.0:0,0:0,0:118,71:33,79:15,40:NM_003549.3(HYAL3) c.-273-u133G>T,-:0.19,-:NOT_FOUND,- 3 50338232 . C . . NT END=50338418;NT GT ./. 3 50338509 . C . . NT END=50339487;NT GT ./. 3 50339381 . C CA 15 idl,rn VT=INS;SST=Single;DP=38;NP=2;PC=0.620;Gene=HYAL1/NM_033159.3/0;CC=c.900+106_900+107insT;VC=Intron;Gene=HYAL1/NM_153282.2/0;CC=c.900+106_900+107insT;VC=Intron;Gene=HYAL1/NM_153283.2/0;CC=c.354+106_354+107insT;VC=Intron;Gene=HYAL1/NM_153285.2/0;CC=c.123+106_123+107insT;VC=Intron;Gene=HYAL1/NR_047690.1/0;VC=NonCoding;Gene=HYAL1/NM_153281.1/1;CC=c.900+106_900+107insT;VC=Intron;DM=HYAL1/Glyco_hydro_56;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:138:A,C,CA,D:35:37:8:3:2,25,6,2:64,757,251,89:4.22,0.00,15.20,3.92:1.81,0.00,15.20,3.92:2.40,0.00,0.00,0.00:0.00,0.00,0.88,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.44,0.00:60,60,60,60:53.0,12.2,47.0,26.0:0,1,2,1:0,0,0,0:9,64,44,28:141,87,107,123:9,45,19,23:-,NM_153281.1(HYAL1) c.900+106_900+107insT:-,NOT_FOUND:-,NOT_FOUND 3 50340388 . G . . NT END=50355559;NT GT ./. 3 50355971 . C . . NT END=50356386;NT GT ./. 3 50356477 . C . . NT END=50356999;NT GT ./. 3 50357869 rs709210 A C 199 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=A/0.264,C/0.736,G/.;PC=0.002;Gene=HYAL2/NM_003773.4/0;CC=c.52T>G;ProtCh=p.S18A;VC=Missense;Gene=HYAL2/NM_033158.4/1;CC=c.52T>G;ProtCh=p.S18A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:124:73:0:0:59,64,1:1797,2059,34:0.00,199.41,1.58:0.00,69.17,-0.09:0.00,130.24,1.67:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.3,43.0,34.0:0,0,0:0,0,0:79,93,77:58,50,74:31,40,0:-,NM_033158.4(HYAL2) c.52T>G (p.Ser18Ala):-,0.77:-,0.725146 3 50357921 . G . . NT END=50363542;NT GT ./. 3 50363618 . C . . NT END=50363787;NT GT ./. 3 50363909 . C . . NT END=50365384;NT GT ./. 3 50365522 . G . . NT END=50368011;NT GT ./. 3 50368159 . C . . NT END=50368764;NT GT ./. 3 50368881 . C . . NT END=50368989;NT GT ./. 3 50369288 . C . . NT END=50369480;NT GT ./. 3 50369586 . C . . NT END=50374603;NT GT ./. 3 50374896 . C . . NT END=50375335;NT GT ./. 3 50375455 . C . . NT END=50375573;NT GT ./. 3 50375665 . G . . NT END=50377986;NT GT ./. 3 50378237 . G . . NT END=50378840;NT GT ./. 3 50378917 . C . . NT END=50379004;NT GT ./. 3 50379131 . C . . NT END=50379240;NT GT ./. 3 50379363 . C . . NT END=50379445;NT GT ./. 3 50379572 . C . . NT END=50379827;NT GT ./. 3 50380087 . C . . NT END=50380348;NT GT ./. 3 50380450 . C . . NT END=50380548;NT GT ./. 3 50380638 . C . . NT END=50380737;NT GT ./. 3 50380876 . C . . NT END=50380993;NT GT ./. 3 50381048 . C . . NT END=50381164;NT GT ./. 3 50381282 . C . . NT END=50382554;NT GT ./. 3 50382668 . C . . NT END=50382918;NT GT ./. 3 50383314 . C . . NT END=50385036;NT GT ./. 3 50385105 . C . . NT END=50385189;NT GT ./. 3 50385333 . C . . NT END=50385554;NT GT ./. 3 50385673 . C . . NT END=50385747;NT GT ./. 3 50385842 . C . . NT END=50385957;NT GT ./. 3 50385995 . C . . NT END=50386115;NT GT ./. 3 50386214 . C . . NT END=50386304;NT GT ./. 3 50386442 . C . . NT END=50386816;NT GT ./. 3 50386926 . C . . NT END=50387095;NT GT ./. 3 50387265 . C . . NT END=50387361;NT GT ./. 3 50387454 . C . . NT END=50388005;NT GT ./. 3 50388318 . G . . NT END=50388864;NT GT ./. 3 50388992 . G . . NT END=50389439;NT GT ./. 3 50389478 . G . . NT END=50390671;NT GT ./. 3 50391176 . G . . NT END=50392773;NT GT ./. 3 50392979 . C . . NT END=50395643;NT GT ./. 3 50396495 . C . . NT END=50402096;NT GT ./. 3 50402238 . C . . NT END=50402318;NT GT ./. 3 50402409 . t . . NT END=50402505;NT GT ./. 3 50402616 . C . . NT END=50402786;NT GT ./. 3 50402914 . C . . NT END=50403063;NT GT ./. 3 50403120 . C . . NT END=50403240;NT GT ./. 3 50403294 . C . . NT END=50403441;NT GT ./. 3 50403308 rs149761786 G A 106 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.9958,A/0.004193;PC=0.999;Gene=CYB561D2/NR_111912.1/0;VC=NonCoding;Gene=CACNA2D2/NM_001005505.2/0;CC=c.2863-15C>T;VC=Intron;Gene=CACNA2D2/NM_001174051.2/1;CC=c.2884-15C>T;VC=Intron;Gene=CACNA2D2/NM_006030.3/0;CC=c.2863-15C>T;VC=Intron;Gene=CACNA2D2/NM_001291101.1/0;CC=c.2656-15C>T;VC=Intron;Gene=CYB561D2/NR_111913.1/0;VC=NonCoding;Gene=CYB561D2/NR_111914.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:54:0:0:35,47:1135,1571:105.89,0.00:50.97,0.00:54.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.7,8.1:0,0:0,0:83,81:62,55:30,24:NM_001174051.1(CACNA2D2) c.2884-15C>T,-:0.01,-:0.008073,- 3 50403595 . C . . NT END=50403697;NT GT ./. 3 50403770 . C . . NT END=50404008;NT GT ./. 3 50404060 . C . . NT END=50404261;NT GT ./. 3 50404351 . C . . NT END=50404441;NT GT ./. 3 50404541 . C . . NT END=50404824;NT GT ./. 3 50404929 . C . . NT END=50405072;NT GT ./. 3 50405136 . C . . NT END=50405242;NT GT ./. 3 50405334 . C . . NT END=50405568;NT GT ./. 3 50405354 . T G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;Gene=CYB561D2/NR_111912.1/0;VC=NonCoding;Gene=CACNA2D2/NM_001005505.2/0;CC=c.2144-21A>C;VC=Intron;Gene=CACNA2D2/NM_001174051.2/1;CC=c.2165-21A>C;VC=Intron;Gene=CACNA2D2/NM_006030.3/0;CC=c.2144-21A>C;VC=Intron;Gene=CACNA2D2/NM_001291101.1/0;CC=c.1937-21A>C;VC=Intron;Gene=CYB561D2/NR_111913.1/0;VC=NonCoding;Gene=CYB561D2/NR_111914.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:G,T:21:17:0:0:4,17:92,351:6.70,0.00:-0.40,0.00:7.10,0.00:0.70,0.00:0.94,0.00:0.77,0.00:60,60:66.8,27.2:0,0:0,0:78,94:39,55:51,40:NM_001174051.1(CACNA2D2) c.2165-21A>C,-:NOT_FOUND,-:NOT_FOUND,- 3 50405667 . C . . NT END=50407750;NT GT ./. 3 50407812 . C . . NT END=50410495;NT GT ./. 3 50410517 . C . . NT END=50412167;NT GT ./. 3 50412245 . C . . NT END=50413074;NT GT ./. 3 50413137 . C . . NT END=50413239;NT GT ./. 3 50413312 . C . . NT END=50413393;NT GT ./. 3 50413466 . C . . NT END=50413544;NT GT ./. 3 50413620 . C . . NT END=50414897;NT GT ./. 3 50414973 . C . . NT END=50415162;NT GT ./. 3 50415235 . C . . NT END=50415438;NT GT ./. 3 50415529 . C . . NT END=50415714;NT GT ./. 3 50415765 . C . . NT END=50416345;NT GT ./. 3 50416425 . C . . NT END=50416522;NT GT ./. 3 50416501 rs5030977 C T 123 nt VT=SNV;PN=C;NN=C;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.9677,T/0.03235;Gene=CACNA2D2/NM_001005505.2/0;CC=c.1260+22G>A;VC=Intron;Gene=CACNA2D2/NM_001174051.2/1;CC=c.1260+22G>A;VC=Intron;Gene=CACNA2D2/NM_006030.3/0;CC=c.1260+22G>A;VC=Intron;Gene=CACNA2D2/NM_001291101.1/0;CC=c.1053+22G>A;VC=Intron;DM=CACNA2D2/VWA;DM=CACNA2D2/VWA;DM=CACNA2D2/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:94:46:0:0:1,53,40:12,1618,1316:-0.08,0.00,123.08:0.09,0.00,47.45:-0.17,0.00,75.63:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:32.0,4.3,40.6:0,0,0:0,0,0:129,91,86:22,60,64:0,37,36:-,NM_001174051.1(CACNA2D2) c.1260+22G>A:-,0.05:-,0.068046 3 50416631 . C . . NT END=50416862;NT GT ./. 3 50417022 . C . . NT END=50417155;NT GT ./. 3 50417256 . C . . NT END=50417398;NT GT ./. 3 50417450 . C . . NT END=50418178;NT GT ./. 3 50417685 rs41308273 T A 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9884,A/0.01158;Gene=CACNA2D2/NM_001005505.2/0;CC=c.843-236A>T;VC=Intron;Gene=CACNA2D2/NM_001174051.2/1;CC=c.843-236A>T;VC=Intron;Gene=CACNA2D2/NM_006030.3/0;CC=c.843-236A>T;VC=Intron;Gene=CACNA2D2/NM_001291101.1/0;CC=c.636-236A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,T:11:1:0:0:5,6:138,191:12.86,0.00:3.53,0.00:9.33,0.00:0.93,0.00:0.64,0.00:0.99,0.00:60,60:38.8,0.0:0,0:0,0:128,124:22,27:11,20:NM_001174051.1(CACNA2D2) c.843-236A>T,-:0.02,-:NOT_FOUND,- 3 50418237 . C . . NT END=50418425;NT GT ./. 3 50418558 . C . . NT END=50421626;NT GT ./. 3 50421769 . C . . NT END=50424998;NT GT ./. 3 50425044 . C . . NT END=50431539;NT GT ./. 3 50431600 . C . . NT END=50471743;NT GT ./. 3 50471861 . C . . NT END=50513548;NT GT ./. 3 50513631 . C . . NT END=50540648;NT GT ./. 3 50540715 . a . . NT END=50596094;NT GT ./. 3 50597092 rs1034405 G A 362 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.1673,A/0.8327;PC=1.000;Gene=C3orf18/NM_001171740.2/0;CC=c.485C>T;ProtCh=p.A162V;VC=Missense;Gene=C3orf18/NM_001171743.2/0;CC=c.425C>T;ProtCh=p.A142V;VC=Missense;Gene=C3orf18/NM_016210.4/1;CC=c.485C>T;ProtCh=p.A162V;VC=Missense;Gene=C3orf18/NM_001171741.2/0;CC=c.485C>T;ProtCh=p.A162V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:97:62:0:0:97:3158:361.98:174.17:187.81:1.00:1.00:1.00:60:39.0:0:0:73:71:30:NM_016210.4(C3orf18) c.485C>T (p.Ala162Val),NM_016210.4(C3orf18) c.485C>T (p.Ala162Val):0.83,0.83:0.811056,0.811056 3 50597169 . C . . NT END=50598347;NT GT ./. 3 50598496 . C . . NT END=50599152;NT GT ./. 3 50599179 . C . . NT END=50602896;NT GT ./. 3 50603131 . G . . NT END=50608535;NT GT ./. 3 50608764 . G . . NT END=50609140;NT GT ./. 3 50609123 rs636168 T C 210 nt VT=SNV;PN=A;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.04433,C/0.9557;Gene=HEMK1/NM_016173.3/1;CC=c.229-18T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:44:0:0:55:1841:210.32:128.02:82.30:1.00:1.00:1.00:60:39.7:0:0:51:85:30:NM_016173.3(HEMK1) c.229-18T>C,NM_016173.3(HEMK1) c.229-18T>C:0.96,0.96:0.953252,0.953252 3 50609233 . G . . NT END=50609507;NT GT ./. 3 50609624 rs2232248 T G 309 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=83;DB;DBA=NA;PAF=NA;PC=1.000;Gene=HEMK1/NM_016173.3/1;CC=c.399T>G;ProtCh=p.P133=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:83:54:0:0:83:2693:308.53:127.98:180.55:1.00:1.00:1.00:60:38.8:0:0:69:77:36:NM_016173.3(HEMK1) c.399T>G (p.(=)),NM_016173.3(HEMK1) c.399T>G (p.(=)):0.73,0.73:0.828541,0.828541 3 50609640 . G . . NT END=50614482;NT GT ./. 3 50614618 . G . . NT END=50614939;NT GT ./. 3 50615005 . G . . NT END=50615256;NT GT ./. 3 50615307 . G . . NT END=50616251;NT GT ./. 3 50615539 rs388483 G A,C 13 end,nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5469,A/0.4531;DM=HEMK1/Methyltransf_31 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,C:5:0:0:0:4,1:113,10:12.82,0.79:0.00,0.00:12.82,0.79:0.96,0.00:0.00,0.00:0.96,0.00:60,60:28.2,125.0:0,0:0,0:137,131:13,-15:4,0:NM_016173.3(HEMK1) c.664+233G>A,NM_016173.3(HEMK1) c.664+233G>C:0.43,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 50616358 . G . . NT END=50617274;NT GT ./. 3 50617371 . G . . NT END=50617546;NT GT ./. 3 50617661 . G . . NT END=50617811;NT GT ./. 3 50617849 . C . . NT END=50645037;NT GT ./. 3 50645574 . C . . NT END=50645803;NT GT ./. 3 50645635 rs621975 T G 286 nt VT=SNV;PN=G;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.05471,G/0.9453;PC=0.028;Gene=CISH/NM_013324.5/1;CC=c.293-62A>C;VC=Intron;Gene=CISH/NM_145071.2/0;CC=c.242-62A>C;VC=Intron;DM=CISH/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:81:47:0:0:81:2473:285.69:135.85:149.83:1.00:1.00:1.00:60:38.8:0:0:97:53:31:NM_013324.5(CISH) c.293-62A>C,NM_013324.5(CISH) c.293-62A>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 50645793 rs622502 C G 275 nt VT=SNV;PN=C;NN=T;SST=Single;DP=79;DB;DBA=NA;PAF=NA;Gene=CISH/NM_013324.5/1;CC=c.292+11G>C;VC=Intron;Gene=CISH/NM_145071.2/0;CC=c.241+11G>C;VC=Intron;DM=CISH/SH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:79:56:0:0:78,1:2385,10:274.96,0.13:161.29,0.00:113.67,0.13:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,135.0:0,0:0,0:49,83:99,44:31,0:NM_013324.5(CISH) c.292+11G>C,NM_013324.5(CISH) c.292+11G>C:0.86,0.86:0.842996,0.842996 3 50646025 . C . . NT END=50647803;NT GT ./. 3 50648560 rs397713773 T TG 519 PASS VT=INS;SST=Single;DP=146;DB;DBA=NA;PAF=T/0.1346,TG/0.8654,TGG/.;DB;DBA=NA;PAF=T/0.1346,TG/0.8654;NP=21;Gene=CISH/NM_013324.5/1;CC=c.-87+501dupC;VC=Intron;Gene=CISH/NM_145071.2/0;CC=c.20+501dupC;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T,TG:146:92:143:0:3,143:92,4574:0.00,519.22:0.00,242.92:0.00,276.29:0.00,1.00:0.00,1.00:0.00,1.00:60,70:6.7,8.2:0,0:0,0:144,58:2,90:1,31:NM_013324.5(CISH) c.-87+501_-87+502insC,NM_013324.5(CISH) c.-87+501_-87+502insC:0.86,0.86:NOT_FOUND,NOT_FOUND 3 50649043 . G . . NT END=50649061;NT GT ./. 3 50649082 . G . . NT END=50654996;NT GT ./. 3 50649370 rs6768300 C G 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.1348,G/0.8652;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.-565C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:230:26.79:0.00:26.79:1.00:0.00:1.00:60:50.9:0:0:110:40:17:NM_001243926.1(MAPKAPK3) c.-565C>G,NM_001243926.1(MAPKAPK3) c.-565C>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 50655216 . G . . NT END=50677796;NT GT ./. 3 50677937 . G . . NT END=50679137;NT GT ./. 3 50678001 rs608961 C T 195 nt VT=SNV;PN=A;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.02137,T/0.9786;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.359+65C>T;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.359+65C>T;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.359+65C>T;VC=Intron;DM=MAPKAPK3/Pkinase;DM=MAPKAPK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:T:52:21:0:0:52:1700:194.75:48.70:146.05:1.00:1.00:1.00:60:45.6:0:0:98:41:22:NM_001243926.1(MAPKAPK3) c.359+65C>T,NM_001243926.1(MAPKAPK3) c.359+65C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 50678151 rs4267639 C T 22 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.05331,T/0.9467;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.359+215C>T;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.359+215C>T;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.359+215C>T;VC=Intron;DM=MAPKAPK3/Pkinase;DM=MAPKAPK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:1:0:0:7:192:22.49:1.94:20.55:1.00:1.00:1.00:60:64.6:0:0:90:61:45:NM_001243926.1(MAPKAPK3) c.359+215C>T,NM_001243926.1(MAPKAPK3) c.359+215C>T:0.95,0.95:NOT_FOUND,NOT_FOUND 3 50679203 . G . . NT END=50679683;NT GT ./. 3 50679320 rs543328312 G A 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.9984,A/0.001597;NP=5;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.424+118G>A;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.424+118G>A;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.424+118G>A;VC=Intron;DM=MAPKAPK3/Pkinase;DM=MAPKAPK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:1:0:0:19,13:600,385:59.64,0.00:-0.39,0.00:60.03,0.00:1.00,0.00:0.73,0.00:1.00,0.00:60,60:36.5,3.2:0,0:0,0:81,127:70,24:25,19:NM_001243926.1(MAPKAPK3) c.424+118G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 50679764 . G . . NT END=50681839;NT GT ./. 3 50681964 . G . . NT END=50683140;NT GT ./. 3 50682899 rs936714 T C 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.05531,C/0.9447;PC=0.002;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.629-242T>C;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.629-242T>C;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.629-242T>C;VC=Intron;DM=MAPKAPK3/Pkinase;DM=MAPKAPK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:178:20.19:20.19:0.00:1.00:1.00:0.00:60:62.0:0:0:46:104:15:NM_001243926.1(MAPKAPK3) c.629-242T>C,NM_001243926.1(MAPKAPK3) c.629-242T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 50683217 . G . . NT END=50683570;NT GT ./. 3 50683696 . G . . NT END=50684170;NT GT ./. 3 50683809 rs876105 T C 129 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.2127,C/0.7873;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.829+114T>C;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.829+114T>C;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.829+114T>C;VC=Intron;DM=MAPKAPK3/Pkinase;DM=MAPKAPK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:4:0:0:36:1121:129.20:9.94:119.26:1.00:1.00:1.00:60:42.7:0:0:117:33:24:NM_001243926.1(MAPKAPK3) c.829+114T>C,NM_001243926.1(MAPKAPK3) c.829+114T>C:0.78,0.78:NOT_FOUND,NOT_FOUND 3 50683977 rs876104 A G 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.2125,G/0.7875;PC=0.002;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.830-194A>G;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.830-194A>G;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.830-194A>G;VC=Intron;DM=MAPKAPK3/Pkinase;DM=MAPKAPK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:14:0:0:20:639:73.43:49.77:23.66:1.00:1.00:1.00:60:65.0:0:0:76:74:42:NM_001243926.1(MAPKAPK3) c.830-194A>G,NM_001243926.1(MAPKAPK3) c.830-194A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 50684011 rs876103 G A 90 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.2129,A/0.7871;PC=0.001;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.830-160G>A;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.830-160G>A;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.830-160G>A;VC=Intron;DM=MAPKAPK3/Pkinase;DM=MAPKAPK3/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:22:0:0:25:782:90.06:78.63:11.43:1.00:1.00:1.00:60:59.4:0:0:47:104:32:NM_001243926.1(MAPKAPK3) c.830-160G>A,NM_001243926.1(MAPKAPK3) c.830-160G>A:0.78,0.78:NOT_FOUND,NOT_FOUND 3 50684257 . G . . NT END=50684553;NT GT ./. 3 50684489 rs4468971 A G 230 nt VT=SNV;PN=T;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.002196,G/0.9978;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.916-65A>G;VC=Intron;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.916-65A>G;VC=Intron;Gene=MAPKAPK3/NM_004635.4/0;CC=c.916-65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:G:62:46:0:0:62:2008:230.31:142.46:87.85:1.00:1.00:1.00:60:38.7:0:0:39:108:21:NM_001243926.1(MAPKAPK3) c.916-65A>G,NM_001243926.1(MAPKAPK3) c.916-65A>G:1,1:NOT_FOUND,NOT_FOUND 3 50684635 . G . . NT END=50685324;NT GT ./. 3 50685478 . C . . NT END=50712694;NT GT ./. 3 50685574 rs35676349 CA C 149 nt VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=CA/0.7784,C/0.2216;NP=1115;PC=0.159;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.*101delA;VC=3UTR;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.*101delA;VC=3UTR;Gene=MAPKAPK3/NM_004635.4/0;CC=c.*101delA;VC=3UTR;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:CA,C:50:6:0:44:6,44:177,1364:0.00,149.41:0.00,9.60:0.00,139.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.0,17.1:0,0:0,0:149,101:1,50:1,23:-,NM_001243926.1(MAPKAPK3) c.*98A[3]:-,0.24:-,NOT_FOUND 3 50685642 rs9879397 A G 83 nt VT=SNV;PN=A;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2123,G/0.7877;Gene=MAPKAPK3/NM_001243926.1/1;CC=c.*165A>G;VC=3UTR;Gene=MAPKAPK3/NM_001243925.1/0;CC=c.*165A>G;VC=3UTR;Gene=MAPKAPK3/NM_004635.4/0;CC=c.*165A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:G:22:1:0:0:22:726:83.04:2.04:81.01:1.00:1.00:1.00:60:38.1:0:0:86:64:27:NM_001243926.1(MAPKAPK3) c.*165A>G,NM_001243926.1(MAPKAPK3) c.*165A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 50712732 . G . . NT END=50816105;NT GT ./. 3 50756931 rs183909666 G A 49 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=6;Gene=DOCK3/NM_004947.4/1;CC=c.37+44200G>A;VC=Intron;DM=DOCK3/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:43:0:0:16,29:542,833:49.16,0.00:42.49,0.00:6.66,0.00:1.00,0.00:1.00,0.00:0.83,0.00:60,60:35.9,6.2:0,0:0,0:18,41:132,110:18,34:NM_004947.4(DOCK3) c.37+44200G>A,-:0.0032,-:NOT_FOUND,- 3 50757234 rs1824280 C T 110 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.06749,T/0.9325;PC=0.005;Gene=DOCK3/NM_004947.4/1;CC=c.37+44503C>T;VC=Intron;DM=DOCK3/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:T:30:3:0:0:30:960:110.28:7.50:102.78:1.00:1.00:1.00:60:37.9:0:0:98:52:36:NM_004947.4(DOCK3) c.37+44503C>T,NM_004947.4(DOCK3) c.37+44503C>T:0.91,0.91:NOT_FOUND,NOT_FOUND 3 50757396 rs4429624 A G 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.06749,G/0.9325;PC=0.002;Gene=DOCK3/NM_004947.4/1;CC=c.37+44665A>G;VC=Intron;DM=DOCK3/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:278:32.09:0.00:32.09:1.00:0.00:1.00:60:68.9:0:0:60:55:40:NM_004947.4(DOCK3) c.37+44665A>G,NM_004947.4(DOCK3) c.37+44665A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 3 50816190 . G . . NT END=50879105;NT GT ./. 3 50825246 rs2675805 T A 129 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.02057,A/0.9794;PC=0.050;Gene=DOCK3/NM_004947.4/1;CC=c.121+9057T>A;VC=Intron;DM=DOCK3/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A:36:20:0:0:36:1115:128.61:63.46:65.15:1.00:1.00:1.00:60:51.1:0:0:112:39:23:NM_004947.4(DOCK3) c.121+9057T>A,NM_004947.4(DOCK3) c.121+9057T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 50825303 rs6446220 C G 113 nt VT=SNV;PN=C;NN=C;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.2967,G/0.7033;PC=1.000;Gene=DOCK3/NM_004947.4/1;CC=c.121+9114C>G;VC=Intron;DM=DOCK3/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:84:G:32:19:0:0:32:980:112.92:51.03:61.89:1.00:1.00:1.00:60:54.6:0:0:53:90:24:NM_004947.4(DOCK3) c.121+9114C>G,NM_004947.4(DOCK3) c.121+9114C>G:0.68,0.68:NOT_FOUND,NOT_FOUND 3 50825635 rs140406358 G A 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9888,A/0.01118;PC=0.948;Gene=DOCK3/NM_004947.4/1;CC=c.121+9446G>A;VC=Intron;DM=DOCK3/SH3_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,G:12:4:0:0:5,7:174,228:16.25,0.00:-0.82,0.00:17.06,0.00:0.92,0.00:0.89,0.00:0.98,0.00:60,60:41.2,0.0:0,0:0,0:71,71:79,80:8,25:NM_004947.4(DOCK3) c.121+9446G>A,-:0.02,-:NOT_FOUND,- 3 50879147 . G . . NT END=50927456;NT GT ./. 3 50927513 . G . . NT END=50971411;NT GT ./. 3 50971509 . G . . NT END=51101878;NT GT ./. 3 51087224 rs34449511 C CCACA 12 idl,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=2;NP=3;PC=0.020;Gene=DOCK3/NM_004947.4/1;CC=c.316-14620_316-14619insACAC;VC=Intron;DM=DOCK3/DOCK_N;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,CCACA:8:8:6:0:4,4:132,188:0.00,11.83:0.00,6.50:0.00,5.32:0.00,0.84:0.00,0.97:0.00,0.96:60,60:40.8,68.0:0,2:0,0:73,80:72,71:15,5:-,NM_004947.4(DOCK3) c.316-14655_316-14654insCACA:-,NOT_FOUND:-,NOT_FOUND 3 51087260 rs7644756 C A 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2626,A/0.7374;PC=0.022;Gene=DOCK3/NM_004947.4/1;CC=c.316-14619C>A;VC=Intron;DM=DOCK3/DOCK_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:6:0:1:9:267:30.93:15.11:15.82:1.00:1.00:1.00:60:55.9:0:0:116:35:9:NM_004947.4(DOCK3) c.316-14619C>A,NM_004947.4(DOCK3) c.316-14619C>A:0.71,0.71:NOT_FOUND,NOT_FOUND 3 51087279 rs59540663 AACT A 30 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=AACT/0.1579,A/0.8421;DB;DBA=NA;PAF=AACT/0.1579,A/0.8421;NP=719;PC=0.038;Gene=DOCK3/NM_004947.4/1;CC=c.316-14598_316-14596delCTA;VC=Intron;DM=DOCK3/DOCK_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:AACT,A:10:7:0:9:1,9:32,275:0.00,30.38:0.00,18.31:0.00,12.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:80.0,40.3:0,0:0,0:145,105:6,45:0,25:-,NM_004947.4(DOCK3) c.316-14599_316-14597delACT:-,0.83:-,NOT_FOUND 3 51101638 rs142664566 G A 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.9914,A/0.008586;PC=0.015;Gene=DOCK3/NM_004947.4/1;CC=c.316-241G>A;VC=Intron;DM=DOCK3/DOCK_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:15:15:0:0:8,7:245,188:23.90,0.00:23.90,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:44.9,34.7:0,0:0,0:44,75:105,75:15,19:NM_004947.4(DOCK3) c.316-241G>A,-:0.01,-:NOT_FOUND,- 3 51102028 . G . . NT END=51112786;NT GT ./. 3 51104858 rs77530975 T TTGTGTGTG 9 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;NP=2;NP=20;NP=4;Gene=DOCK3/NM_004947.4/1;CC=c.464+2861_464+2862insTGTGTGTG;VC=Intron;DM=DOCK3/DOCK_N;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:T,TTGTGTGTG:6:5:4:0:3,3:55,121:0.00,8.82:0.00,7.53:0.00,1.29:0.00,0.69:0.00,0.93:0.00,0.83:60,60:43.0,35.0:0,1:0,0:49,66:64,85:19,24:-,NM_004947.4(DOCK3) c.464+2831_464+2832insTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 51112872 . G . . NT END=51126673;NT GT ./. 3 51126716 . G . . NT END=51127660;NT GT ./. 3 51127493 rs67222291 CAA C 18 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=CAA/0.9237,C/0.07628;NP=67;PC=0.925;Gene=DOCK3/NM_004947.4/1;CC=c.592-167_592-166delAA;VC=Intron;DM=DOCK3/DOCK_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:CAA,C:10:10:0:6:4,6:127,185:0.00,18.44:0.00,18.44:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:4.8,19.2:0,0:0,0:80,52:70,98:10,24:-,NM_004947.4(DOCK3) c.592-167_592-166delAA:-,0.08:-,NOT_FOUND 3 51127816 . G . . NT END=51183979;NT GT ./. 3 51184062 . G . . NT END=51196674;NT GT ./. 3 51196736 . G . . NT END=51197985;NT GT ./. 3 51198134 . G . . NT END=51246204;NT GT ./. 3 51198319 rs185997248 A G 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=3;PC=0.042;Gene=DOCK3/NM_004947.4/1;CC=c.1037+186A>G;VC=Intron;DM=DOCK3/DOCK_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:1:0:0:8,10:206,312:0.00,30.63:0.00,1.86:0.00,28.77:0.00,1.00:0.00,0.70:0.00,1.00:60,60:24.2,42.5:0,0:0,0:102,98:49,53:24,14:-,NM_004947.4(DOCK3) c.1037+186A>G:-,0.0018:-,NOT_FOUND 3 51246294 . G . . NT END=51251552;NT GT ./. 3 51246360 rs4301044 A G 107 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.06809,G/0.9319;Gene=DOCK3/NM_004947.4/1;CC=c.1126+67A>G;VC=Intron;DM=DOCK3/DOCK_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A,G:30:6:0:0:1,29:8,943:0.00,106.64:0.00,15.40:0.00,91.24:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,35.9:0,0:0,0:102,109:48,42:0,24:NM_004947.4(DOCK3) c.1126+67A>G,NM_004947.4(DOCK3) c.1126+67A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 51246530 rs4340738 C T 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.06869,T/0.9313;PC=0.284;Gene=DOCK3/NM_004947.4/1;CC=c.1126+237C>T;VC=Intron;DM=DOCK3/DOCK_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:214:24.71:0.00:24.71:1.00:0.00:1.00:60:68.4:0:0:116:32:28:NM_004947.4(DOCK3) c.1126+237C>T,NM_004947.4(DOCK3) c.1126+237C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 51251679 . G . . NT END=51263079;NT GT ./. 3 51263205 . G . . NT END=51264713;NT GT ./. 3 51263477 rs2355941 A G 28 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.06809,G/0.9319;PC=0.001;Gene=DOCK3/NM_004947.4/1;CC=c.1377+273A>G;VC=Intron;DM=DOCK3/DOCK-C2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:243:27.64:0.00:27.64:1.00:0.00:1.00:60:43.1:0:0:108:42:28:NM_004947.4(DOCK3) c.1377+273A>G,NM_004947.4(DOCK3) c.1377+273A>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 51264877 . G . . NT END=51265412;NT GT ./. 3 51265520 . G . . NT END=51266091;NT GT ./. 3 51266264 . G . . NT END=51266942;NT GT ./. 3 51266880 rs113104131 TA T 23 idl,rn VT=DEL;SST=Single;DP=50;DB;DBA=NA;PAF=NA;NP=90;PC=0.414;Gene=DOCK3/NM_004947.4/1;CC=c.1820-49delA;VC=Intron;DM=DOCK3/DOCK-C2;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:G,TA,I,T:47:46:4:14:1,32,4,10:8,1061,129,376:-0.17,0.00,9.27,23.09:-0.14,0.00,6.71,17.58:-0.03,0.00,2.56,5.52:0.00,0.00,0.00,0.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.89:60,60,60,60:8.0,18.3,2.0,16.4:0,0,0,3:0,0,0,0:145,52,57,49:5,95,92,101:0,38,42,36:-,NM_004947.4(DOCK3) c.1820-62delA:-,NOT_FOUND:-,NOT_FOUND 3 51267041 . G . . NT END=51273775;NT GT ./. 3 51273644 rs189645030 G T 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;NP=3;Gene=DOCK3/NM_004947.4/1;CC=c.1918-132G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:G,T:15:15:0:0:3,12:105,382:0.00,40.66:0.00,40.66:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,73.9:0,0:0,0:118,32:30,118:25,23:-,NM_004947.4(DOCK3) c.1918-132G>T:-,0.0005:-,NOT_FOUND 3 51273711 rs1480362 A G 84 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.2298,G/0.7702;Gene=DOCK3/NM_004947.4/1;CC=c.1918-65A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:20:0:0:24:729:84.29:66.84:17.45:1.00:1.00:1.00:60:77.4:0:0:37:110:30:NM_004947.4(DOCK3) c.1918-65A>G,NM_004947.4(DOCK3) c.1918-65A>G:0.74,0.74:NOT_FOUND,NOT_FOUND 3 51273773 rs1480361 T C 121 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.003594,C/0.9964;NP=3475;PC=0.991;Gene=DOCK3/NM_004947.4/1;CC=c.1918-3T>C;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:22:0:0:33:1056:121.22:63.92:57.30:1.00:1.00:1.00:60:61.8:0:0:53:98:21:NM_004947.4(DOCK3) c.1918-3T>C,NM_004947.4(DOCK3) c.1918-3T>C:0.99,0.99:0.991306,0.991306 3 51273860 . G . . NT END=51274920;NT GT ./. 3 51273992 rs2291162 C G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2298,G/0.7702;Gene=DOCK3/NM_004947.4/1;CC=c.2001+133C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:0:0:0:11:379:43.15:0.00:43.15:1.00:0.00:1.00:60:36.5:0:0:99:52:27:NM_004947.4(DOCK3) c.2001+133C>G,NM_004947.4(DOCK3) c.2001+133C>G:0.74,0.74:NOT_FOUND,NOT_FOUND 3 51274721 rs7634799 T A 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.2298,A/0.7702;PC=0.007;Gene=DOCK3/NM_004947.4/1;CC=c.2002-200T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:180:21.29:21.29:0.00:1.00:1.00:0.00:60:42.9:0:0:57:93:17:NM_004947.4(DOCK3) c.2002-200T>A,NM_004947.4(DOCK3) c.2002-200T>A:0.74,0.74:NOT_FOUND,NOT_FOUND 3 51274902 rs11386090 T TA 154 nt VT=INS;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.7352,TA/0.2648;NP=2306;Gene=DOCK3/NM_004947.4/1;CC=c.2002-18dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:T,TA:45:39:43:0:2,43:67,1372:0.00,154.15:0.00,100.37:0.00,53.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,9.6:1,0:0,0:94,45:51,90:46,21:NM_004947.4(DOCK3) c.2002-19_2002-18insA,NM_004947.4(DOCK3) c.2002-19_2002-18insA:0.29,0.29:0.415461,0.415461 3 51275022 . G . . NT END=51284156;NT GT ./. 3 51284239 . G . . NT END=51297586;NT GT ./. 3 51286320 rs374293420 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=481;Gene=DOCK3/NM_004947.4/1;CC=c.2184+2082C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:138:15.71:6.07:9.64:1.00:1.00:1.00:56:97.0:0:0:105:45:32:NM_004947.4(DOCK3) c.2184+2082C>T,NM_004947.4(DOCK3) c.2184+2082C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 51297758 . G . . NT END=51308245;NT GT ./. 3 51308439 . G . . NT END=51312509;NT GT ./. 3 51312638 . G . . NT END=51313774;NT GT ./. 3 51313890 . G . . NT END=51315038;NT GT ./. 3 51315186 . G . . NT END=51315199;NT GT ./. 3 51315830 rs11706571 T C 451 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=126;DB;DBA=NA;PAF=T/0.23,C/0.77;Gene=DOCK3/NM_004947.4/1;CC=c.2823+645T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:126:77:0:0:126:3911:450.68:215.19:235.49:1.00:1.00:1.00:60:36.0:0:0:95:55:34:NM_004947.4(DOCK3) c.2823+645T>C,NM_004947.4(DOCK3) c.2823+645T>C:0.74,0.74:NOT_FOUND,NOT_FOUND 3 51315960 . G . . NT END=51317536;NT GT ./. 3 51316046 rs58166776 CAT C 127 idl,rn VT=DEL;SST=Single;DP=49;DB;DBA=NA;PAF=CAT/0.2418,C/0.7582;NP=594;PC=0.005;Gene=DOCK3/NM_004947.4/1;CC=c.2823+878_2823+879delAT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:CAT,C:47:11:0:42:7,40:239,1235:0.00,127.32:0.00,17.37:0.00,109.95:0.00,1.00:0.00,1.00:0.00,1.00:60,70:1.4,14.0:0,2:0,0:140,84:11,66:9,31:-,NM_004947.4(DOCK3) c.2823+862_2823+863delAT:-,NOT_FOUND:-,NOT_FOUND 3 51317636 . G . . NT END=51347662;NT GT ./. 3 51347758 . G . . NT END=51349434;NT GT ./. 3 51349511 . G . . NT END=51349906;NT GT ./. 3 51350008 . G . . NT END=51350274;NT GT ./. 3 51350334 . G . . NT END=51352410;NT GT ./. 3 51352560 . G . . NT END=51367568;NT GT ./. 3 51367655 . G . . NT END=51370431;NT GT ./. 3 51370459 . G . . NT END=51370588;NT GT ./. 3 51370685 . G . . NT END=51375789;NT GT ./. 3 51375851 . G . . NT END=51376365;NT GT ./. 3 51376460 . G . . NT END=51378667;NT GT ./. 3 51378817 . G . . NT END=51386282;NT GT ./. 3 51386370 . G . . NT END=51387718;NT GT ./. 3 51387824 . G . . NT END=51392312;NT GT ./. 3 51392455 . G . . NT END=51393519;NT GT ./. 3 51393687 . G . . NT END=51393837;NT GT ./. 3 51393706 rs35251332 C CAG 309 idl,nt VT=INS;SST=Single;DP=95;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.01138,CA/.,CAG/0.9886;NP=2437;Gene=DOCK3/NM_004947.4/1;CC=c.4416+20_4416+21insAG;VC=Intron;DM=DOCK3/DHR-2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:C,CAG:91:49:92:0:3,88:97,2841:0.00,308.59:0.00,139.70:0.00,168.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.7,9.0:0,4:0,0:148,85:3,65:0,32:NM_004947.4(DOCK3) c.4416+20_4416+21insAG,NM_004947.4(DOCK3) c.4416+20_4416+21insAG:NOT_FOUND,NOT_FOUND:0.978839,0.978839 3 51393925 . G . . NT END=51394392;NT GT ./. 3 51394573 . G . . NT END=51395188;NT GT ./. 3 51395273 . G . . NT END=51395391;NT GT ./. 3 51395509 . G . . NT END=51397941;NT GT ./. 3 51395571 rs1542574 C T 129 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.1879,T/0.8121;Gene=DOCK3/NM_004947.4/1;CC=c.4884+63C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:8:0:0:37:1119:129.43:23.01:106.42:1.00:1.00:1.00:60:35.1:0:0:113:38:21:NM_004947.4(DOCK3) c.4884+63C>T,NM_004947.4(DOCK3) c.4884+63C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 3 51398064 . G . . NT END=51399289;NT GT ./. 3 51399429 . G . . NT END=51399957;NT GT ./. 3 51400106 . G . . NT END=51411899;NT GT ./. 3 51412019 . G . . NT END=51413178;NT GT ./. 3 51413267 . G . . NT END=51416879;NT GT ./. 3 51417003 . G . . NT END=51417555;NT GT ./. 3 51417639 . G . . NT END=51418480;NT GT ./. 3 51418348 rs2241784 G A 99 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.2947,A/0.7053;Gene=DOCK3/NM_004947.4/1;CC=c.5584-133G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:27:0:0:27:857:98.57:96.68:1.89:1.00:1.00:1.00:60:43.8:0:0:40:111:16:NM_004947.4(DOCK3) c.5584-133G>A,NM_004947.4(DOCK3) c.5584-133G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 3 51418991 . G . . NT END=51422773;NT GT ./. 3 51422766 rs13091931 G T 379 nt VT=SNV;PN=A;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=NA;PC=0.004;Gene=MANF/NM_006010.5/1;CC=c.2G>T;ProtCh=p.R1M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G,T:112:93:0:0:1,1,110:10,12,3296:0.09,0.00,379.25:0.09,0.00,223.42:0.00,0.00,155.83:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:88.0,54.0,36.3:0,0,0:0,0,0:24,115,42:109,36,101:0,0,27:NM_006010.4(MANF) c.-8G>T,NM_006010.4(MANF) c.-8G>T:0.78,0.78:0.929082,0.929082 3 51422868 . G . . NT END=51423638;NT GT ./. 3 51423767 . G . . NT END=51425167;NT GT ./. 3 51425310 . G . . NT END=51426335;NT GT ./. 3 51426521 . T . . NT END=51428830;NT GT ./. 3 51431504 . C . . NT END=51474985;NT GT ./. 3 51475088 . C . . NT END=51475400;NT GT ./. 3 51475914 . C . . NT END=51477781;NT GT ./. 3 51477920 . C . . NT END=51497129;NT GT ./. 3 51497244 . C . . NT END=51500818;NT GT ./. 3 51500893 . C . . NT END=51504944;NT GT ./. 3 51505022 . C . . NT END=51517734;NT GT ./. 3 51517625 rs374612674 T TTG 32 idl,rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=NA;NP=14;NP=2;NP=328;Gene=VPRBP/NM_001171904.1/0;CC=c.110+109_110+110insCA;VC=Intron;Gene=VPRBP/NM_014703.2/1;CC=c.110+109_110+110insCA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTG:24:29:16:0:13,11:368,503:0.00,32.04:0.00,30.77:0.00,1.27:0.00,1.00:0.00,1.00:0.00,0.85:60,60:0.0,30.5:0,5:0,0:116,41:35,109:16,21:-,NM_014703.2(VPRBP) annotation-fail:-,NOT_FOUND:-,NOT_FOUND 3 51517845 . G . . NT END=51624436;NT GT ./. 3 51624576 . G . . NT END=51661568;NT GT ./. 3 51661771 . G . . NT END=51663349;NT GT ./. 3 51663490 . G . . NT END=51664287;NT GT ./. 3 51664405 . G . . NT END=51664720;NT GT ./. 3 51664948 . G . . NT END=51667592;NT GT ./. 3 51667776 . G . . NT END=51667917;NT GT ./. 3 51668052 . G . . NT END=51669608;NT GT ./. 3 51669806 . G . . NT END=51671176;NT GT ./. 3 51671520 . G . . NT END=51672159;NT GT ./. 3 51672338 . G . . NT END=51673434;NT GT ./. 3 51673687 . G . . NT END=51673896;NT GT ./. 3 51674016 . G . . NT END=51675764;NT GT ./. 3 51675884 . G . . NT END=51677890;NT GT ./. 3 51677991 . G . . NT END=51679039;NT GT ./. 3 51679246 . G . . NT END=51679606;NT GT ./. 3 51679780 . G . . NT END=51680300;NT GT ./. 3 51680498 . G . . NT END=51689986;NT GT ./. 3 51690187 . G . . NT END=51691595;NT GT ./. 3 51691686 . G . . NT END=51694041;NT GT ./. 3 51694135 . G . . NT END=51696441;NT GT ./. 3 51697437 . C . . NT END=51708320;NT GT ./. 3 51697493 rs904145 A G 181 nt VT=SNV;PN=G;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.01158,G/0.9884;PC=0.855;Gene=RAD54L2/NM_015106.2/1;CC=c.*57A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:15:0:0:48:1581:180.93:39.31:141.62:1.00:1.00:1.00:60:42.4:0:0:114:37:23:NM_015106.2(RAD54L2) c.=,NM_015106.2(RAD54L2) c.=:0.99,0.99:NOT_FOUND,NOT_FOUND 3 51708579 . G . . NT END=51718428;NT GT ./. 3 51718651 . G . . NT END=51733421;NT GT ./. 3 51733591 . G . . NT END=51737739;NT GT ./. 3 51738033 . C . . NT END=51742999;NT GT ./. 3 51738256 rs4067 A G 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.09704,G/0.903;Gene=TEX264/NM_001129884.2/0;CC=c.*224A>G;VC=3UTR;Gene=TEX264/NM_001243727.2/0;CC=c.*224A>G;VC=3UTR;Gene=TEX264/NM_001278195.1/1;CC=c.*224A>G;VC=3UTR;Gene=TEX264/NM_015926.5/0;CC=c.*224A>G;VC=3UTR;Gene=TEX264/NR_024012.2/0;VC=NonCoding;Gene=TEX264/NM_001243725.1/0;CC=c.*224A>G;VC=3UTR;Gene=TEX264/NM_001243726.1/0;CC=c.*224A>G;VC=3UTR;Gene=TEX264/NR_103462.1/0;VC=NonCoding;Gene=TEX264/NR_103463.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:1:0:0:8:256:29.39:3.68:25.71:1.00:1.00:1.00:60:38.8:0:0:83:68:41:NM_001243725.1(TEX264) c.*224A>G,NM_001243725.1(TEX264) c.*224A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 3 51743450 . G . . NT END=51746488;NT GT ./. 3 51747327 . G . . NT END=51749077;NT GT ./. 3 51748891 . CTT C 14 nt VT=DEL;SST=Single;DP=14;NP=4;PC=0.277;Gene=GRM2/NM_000839.3/1;CC=c.1289-185_1289-184delTT;VC=Intron;Gene=GRM2/NM_001130063.1/0;CC=c.-566-185_-566-184delTT;VC=Intron;DM=GRM2/ANF_receptor;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:150:CTT,G,C:14:14:0:5:8,1,5:240,10,152:0.00,0.20,13.82:0.00,0.20,13.82:0.00,0.00,0.00:0.00,0.00,0.90:0.00,0.00,0.90:0.00,0.00,0.00:60,30,60:20.9,198.0,23.2:0,0,0:0,0,0:35,59,62:115,62,88:31,0,33:-,NM_000839.3(GRM2) c.1289-186_1289-185delTT:-,NOT_FOUND:-,NOT_FOUND 3 51750154 . G . . NT END=51751652;NT GT ./. 3 51751834 . G . . NT END=51752054;NT GT ./. 3 51752129 . A . . NT END=51812638;NT GT ./. 3 51812952 rs35586812 C T 232 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=174;DB;DBA=NA;PAF=C/0.8676,T/0.1324;DB;DBA=NA;PAF=NA;PC=0.081;Gene=IQCF6/NM_001143833.3/1;CC=c.11G>A;ProtCh=p.R4Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:174:102:0:0:100,74:3085,2485:0.00,232.28:0.00,92.24:0.00,140.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,40.0:0,0:0,0:84,89:63,59:27,31:-,NM_001143833.3(IQCF6) c.11G>A (p.Arg4Gln):-,0.16:-,0.200832 3 51813008 . C . . NT END=51813188;NT GT ./. 3 51813204 . C . . NT END=51813225;NT GT ./. 3 51813241 . G . . NT END=51863491;NT GT ./. 3 51863322 rs75800791 G A 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.9191,A/0.08087;Gene=IQCF3/NM_001085479.2/0;CC=c.-54G>A;VC=5UTR;Gene=IQCF3/NM_001207023.1/1;CC=c.-54G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:19:0:0:8,11:230,372:21.18,0.00:21.18,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:37.4,1.3:0,0:0,0:23,48:127,103:16,17:NM_001085479.2(IQCF3) c.-54G>A,-:0.08,-:NOT_FOUND,- 3 51863510 . G . . NT END=51863680;NT GT ./. 3 51863729 . G . . NT END=51864418;NT GT ./. 3 51864818 . A . . NT END=51895682;NT GT ./. 3 51891484 rs75890092 G A 176 nt VT=SNV;PN=C;NN=G;SST=Single;DP=94;DB;DBA=NA;PAF=G/0.9187,A/0.08127;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:94:81:0:0:52,42:1790,1205:175.91,0.00:109.43,0.00:66.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,10.5:0,0:0,0:46,35:105,105:28,25:NM_203424.1(IQCF2) c.-38-u4161G>A,-:0.08,-:NOT_FOUND,- 3 51895701 . G . . NT END=51895873;NT GT ./. 3 51895850 rs986539 C T 238 nt VT=SNV;PN=A;NN=T;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.1262,T/0.8738;PC=0.330;Gene=IQCF2/NM_203424.1/1;CC=c.19-24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:187:T:65:38:0:0:65:2075:238.46:107.02:131.44:1.00:1.00:1.00:60:39.9:0:0:57:89:26:NM_203424.1(IQCF2) c.19-24C>T,NM_203424.1(IQCF2) c.19-24C>T:0.89,0.89:0.88167,0.88167 3 51895967 . G . . NT END=51897002;NT GT ./. 3 51897387 . G . . NT END=51907748;NT GT ./. 3 51907736 rs7635409 A G 82 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.2827,G/0.7173;Gene=IQCF5-AS1/NR_109984.1/0;VC=NonCoding;Gene=IQCF5/NM_001145059.1/1;CC=c.*12+1T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:50:45:0:0:24,26:757,845:0.00,81.86:0.00,74.92:0.00,6.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.4,41.7:0,0:0,0:43,47:107,100:21,24:-,chr3 g.51907735A>G (intergenic):-,0.75:-,0.697985 3 51908192 . C . . NT END=51909543;NT GT ./. 3 51908226 rs1505403 T C 186 nt VT=SNV;PN=C;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.03235,C/0.9677;Gene=IQCF5-AS1/NR_109984.1/0;VC=NonCoding;Gene=IQCF5/NM_001145059.1/1;CC=c.5-35A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:C:51:14:0:0:51:1618:185.97:30.57:155.40:1.00:1.00:1.00:60:50.3:0:0:106:45:21:NM_001145059.1(IQCF5) c.5-35A>G,NM_001145059.1(IQCF5) c.5-35A>G:0.97,0.97:0.974096,0.974096 3 51908430 rs6794320 T C 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.03175,C/0.9683;Gene=IQCF5-AS1/NR_109984.1/0;VC=NonCoding;Gene=IQCF5/NM_001145059.1/1;CC=c.5-239A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:0:0:0:8:191:22.83:0.00:22.83:1.00:0.00:1.00:60:57.5:0:0:116:34:26:NM_001145059.1(IQCF5) c.5-239A>G,NM_001145059.1(IQCF5) c.5-239A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 51909240 rs1857800 G C 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1226,C/0.8774;Gene=IQCF5-AS1/NR_109984.1/0;VC=NonCoding;Gene=IQCF5/NM_001145059.1/1;CC=c.4+304C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:151:17.46:17.46:0.00:1.00:1.00:0.00:60:30.2:0:0:37:113:16:NM_001145059.1(IQCF5) c.4+304C>G,NM_001145059.1(IQCF5) c.4+304C>G:0.89,0.89:NOT_FOUND,NOT_FOUND 3 51909548 . G . . NT END=51928905;NT GT ./. 3 51929353 . C . . NT END=51930847;NT GT ./. 3 51929360 rs397733683 GA G 171 rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=GA/0.001797,G/0.9982;DB;DBA=NA;PAF=GA/0.001797,G/0.9982;NP=3357;PC=0.413;Gene=IQCF1/NM_152397.2/1;CC=c.172-9delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:GA,G:55:15:0:50:5,50:144,1546:0.00,171.19:0.00,29.42:0.00,141.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,7.7:0,0:0,0:144,94:7,56:2,25:-,NM_152397.2(IQCF1) c.172-9delT:-,0.98:-,0.996569 3 51930911 . C . . NT END=51937000;NT GT ./. 3 51936949 rs7635125 T C 103 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.2536,C/0.7464;Gene=IQCF1/NM_152397.2/1;CC=c.108+52A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:27:0:0:29:891:102.79:83.36:19.43:1.00:1.00:1.00:60:44.7:0:0:51:99:30:NM_152397.2(IQCF1) c.108+52A>G,NM_152397.2(IQCF1) c.108+52A>G:0.75,0.75:0.688699,0.688699 3 51937106 . C . . NT END=51937285;NT GT ./. 3 51937289 . T . . NT END=51967521;NT GT ./. 3 51967616 . C . . NT END=51967723;NT GT ./. 3 51967798 . C . . NT END=51968487;NT GT ./. 3 51968568 . C . . NT END=51968646;NT GT ./. 3 51968793 . C . . NT END=51969212;NT GT ./. 3 51969276 . C . . NT END=51969357;NT GT ./. 3 51969493 . C . . NT END=51969607;NT GT ./. 3 51969709 . C . . NT END=51970272;NT GT ./. 3 51970366 . C . . NT END=51970446;NT GT ./. 3 51970572 . C . . NT END=51971207;NT GT ./. 3 51971335 . C . . NT END=51971560;NT GT ./. 3 51971603 . C . . NT END=51971684;NT GT ./. 3 51971753 . C . . NT END=51972110;NT GT ./. 3 51972221 . C . . NT END=51975424;NT GT ./. 3 51975508 . C . . NT END=51975796;NT GT ./. 3 51975884 . G . . NT END=51976705;NT GT ./. 3 51977064 . T . . NT END=51977364;NT GT ./. 3 51977556 . T . . NT END=51978104;NT GT ./. 3 51978220 rs28547534 A G 431 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=117;DB;DBA=NA;PAF=G/0.002396,A/0.9976;NP=3454;PC=1.000;Gene=PARP3/NM_001003931.3/0;CC=c.320A>G;ProtCh=p.H107R;VC=Missense;Gene=PARP3/NM_005485.5/1;CC=c.299A>G;ProtCh=p.H100R;VC=Missense;DM=PARP3/WGR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:117:74:0:0:117:3758:430.96:181.68:249.28:1.00:1.00:1.00:60:44.4:0:0:70:74:34:NM_001003931.2(PARP3) c.320A>G (p.His107Arg),NM_001003931.2(PARP3) c.320A>G (p.His107Arg):1,1:0.992043,0.992043 3 51978235 . T . . NT END=51978405;NT GT ./. 3 51978596 . T . . NT END=51978793;NT GT ./. 3 51978928 . T . . NT END=51979013;NT GT ./. 3 51979242 . T . . NT END=51979510;NT GT ./. 3 51979662 . T . . NT END=51979868;NT GT ./. 3 51979957 . T . . NT END=51980181;NT GT ./. 3 51980361 . T . . NT END=51981755;NT GT ./. 3 51981913 . T . . NT END=51982326;NT GT ./. 3 51982498 . T . . NT END=51989668;NT GT ./. 3 51990119 rs28587738 A C 647 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=181;DB;DBA=NA;PAF=A/0.002196,C/0.9978,G/.;NP=109;PC=0.998;Gene=GPR62/NM_080865.3/1;CC=c.451A>C;ProtCh=p.T151P;VC=Missense;DM=GPR62/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:181:116:0:0:1,180:19,5644:0.00,647.46:0.00,293.31:0.00,354.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:98.0,39.1:0,0:0,0:118,70:33,77:0,36:NM_080865.3(GPR62) c.451A>C (p.Thr151Pro),NM_080865.3(GPR62) c.451A>C (p.Thr151Pro):1,1:NOT_FOUND,NOT_FOUND 3 51990315 rs28651222 A G 535 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=147;DB;DBA=NA;PAF=A/0.002196,G/0.9978;NP=1978;PC=1.000;Gene=GPR62/NM_080865.3/1;CC=c.647A>G;ProtCh=p.H216R;VC=Missense;DM=GPR62/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:147:95:0:0:1,146:13,4663:0.14,534.95:0.14,247.30:0.00,287.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:168.0,40.9:0,0:0,0:127,60:24,83:0,29:NM_080865.3(GPR62) c.647A>G (p.His216Arg),NM_080865.3(GPR62) c.647A>G (p.His216Arg):1,1:0.995002,0.995002 3 51990776 . G . . NT END=51992076;NT GT ./. 3 51990930 rs13068631 G C 138 nt VT=SNV;PN=C;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7736,C/0.2264;PC=0.003;Gene=GPR62/NM_080865.3/1;CC=c.*155G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:A,C:44:8:0:0:1,43:11,1189:0.25,138.50:0.00,18.98:0.25,119.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:74.0,39.2:0,0:0,0:63,121:88,29:0,12:NM_080865.3(GPR62) c.*155G>C,NM_080865.3(GPR62) c.*155G>C:0.23,0.23:NOT_FOUND,NOT_FOUND 3 51992366 . C . . NT END=51992805;NT GT ./. 3 51992976 . C . . NT END=51993062;NT GT ./. 3 51993116 . C . . NT END=51993244;NT GT ./. 3 51993309 . C . . NT END=51993382;NT GT ./. 3 51993428 . C . . NT END=51993592;NT GT ./. 3 51993668 . C . . NT END=51993910;NT GT ./. 3 51994040 . C . . NT END=51994204;NT GT ./. 3 51994337 . C . . NT END=51994541;NT GT ./. 3 51994659 . C . . NT END=51994881;NT GT ./. 3 51994915 . C . . NT END=51995025;NT GT ./. 3 51995050 . C . . NT END=51995175;NT GT ./. 3 51995321 . C . . NT END=51995764;NT GT ./. 3 51995770 . A . . NT END=52003441;NT GT ./. 3 52003622 . C . . NT END=52003958;NT GT ./. 3 52003724 rs563576510 G GGA 68 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.998,GGA/0.001997;NP=26;Gene=ABHD14B/NM_001146314.1/0;CC=c.454-105_454-104dupTC;VC=Intron;Gene=ABHD14B/NM_001254753.1/0;CC=c.340-105_340-104dupTC;VC=Intron;Gene=ABHD14B/NM_032750.2/1;CC=c.454-105_454-104dupTC;VC=Intron;DM=ABHD14B/Abhydrolase_5;DM=ABHD14B/Abhydrolase_5;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGA:43:8:23:0:20,23:567,696:0.00,67.68:0.00,6.69:0.00,60.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,18.9:0,0:0,0:99,89:51,61:42,31:-,NM_032750.2(ABHD14B) c.454-104_454-103insTC:-,NOT_FOUND:-,NOT_FOUND 3 52004201 . C . . NT END=52005475;NT GT ./. 3 52005909 . c . . NT END=52007867;NT GT ./. 3 52007922 . G . . NT END=52007980;NT GT ./. 3 52008078 . C . . NT END=52009041;NT GT ./. 3 52009221 . G . . NT END=52011886;NT GT ./. 3 52012099 . G . . NT END=52012274;NT GT ./. 3 52012391 . G . . NT END=52014408;NT GT ./. 3 52014645 . G . . NT END=52014851;NT GT ./. 3 52015035 . A . . NT END=52018080;NT GT ./. 3 52018175 . G . . NT END=52019222;NT GT ./. 3 52019288 . G . . NT END=52019376;NT GT ./. 3 52019482 . G . . NT END=52019867;NT GT ./. 3 52019963 . G . . NT END=52020270;NT GT ./. 3 52020348 . G . . NT END=52020430;NT GT ./. 3 52020521 . G . . NT END=52020620;NT GT ./. 3 52020678 . G . . NT END=52021003;NT GT ./. 3 52021078 . G . . NT END=52021162;NT GT ./. 3 52021213 . G . . NT END=52021324;NT GT ./. 3 52021470 . G . . NT END=52021571;NT GT ./. 3 52021641 . G . . NT END=52022539;NT GT ./. 3 52022620 . G . . NT END=52022781;NT GT ./. 3 52022843 . G . . NT END=52022926;NT GT ./. 3 52023092 . G . . NT END=52027764;NT GT ./. 3 52027853 rs71084167 T TCCTTGG 264 lc VT=INS;SST=Single;DP=127;DB;DBA=NA;PAF=T/0.7955,TCCTTGG/0.2045,TCCTTGGCCTTGG/.,TCCTTGGCCTTGGCCTTGG/.;DB;DBA=NA;PAF=T/0.7955,TCCTTGG/0.2045;PC=0.042;Gene=RPL29/NM_000992.2/1;CC=c.391_392insCCAAGG;ProtCh=p.K130_D131insAK;VC=InFrameIns;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TCCTTGG:127:86:86:0:1,40,86:27,1223,2577:0.98,0.00,264.20:1.04,0.00,157.13:-0.06,0.00,107.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:70.0,13.4,3.1:0,3,0:0,0,0:77,120,51:49,27,99:0,14,23:-,NM_000992.2(RPL29) c.386_391dupCCAAGG (p.Ala129_Lys130dup):-,NOT_FOUND:-,NOT_FOUND 3 52028143 . C . . NT END=52029057;NT GT ./. 3 52029123 . C . . NT END=52029440;NT GT ./. 3 52029478 . G . . NT END=52046927;NT GT ./. 3 52047017 . G . . NT END=52047836;NT GT ./. 3 52047869 . G . . NT END=52048730;NT GT ./. 3 52048821 . G . . NT END=52049796;NT GT ./. 3 52049876 . G . . NT END=52049971;NT GT ./. 3 52050069 . G . . NT END=52052727;NT GT ./. 3 52052809 . a . . NT END=52055946;NT GT ./. 3 52056100 . T . . NT END=52084830;NT GT ./. 3 52085139 . C . . NT END=52087955;NT GT ./. 3 52088391 . C . . NT END=52089865;NT GT ./. 3 52088651 rs4687607 G A 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6665,A/0.3335;PC=0.001;Gene=DUSP7/NM_001947.3/1;CC=c.518-261C>T;VC=Intron;DM=DUSP7/Rhodanese GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:A,G:6:0:0:0:3,3:102,74:9.83,0.00:0.00,0.00:9.83,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:34.0,35.0:0,0:0,0:107,116:41,35:32,6:NM_001947.3(DUSP7) c.518-261C>T,-:0.33,-:NOT_FOUND,- 3 52089939 rs371660097 G A 168 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=123;DB;DBA=NA;PAF=G/0.9976,A/0.002396;NP=4;PC=0.014;Gene=DUSP7/NM_001947.3/1;CC=c.444C>T;ProtCh=p.G148=;VC=Silent;DM=DUSP7/Rhodanese GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:123:93:0:0:56,67:1782,2115:168.11,0.00:105.84,0.00:62.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,6.8:0,0:0,0:78,60:72,91:29,28:NM_001947.3(DUSP7) c.444C>T (p.(=)),-:NOT_FOUND,-:0.002818,- 3 52090383 . G . . NT END=52109902;NT GT ./. 3 52109841 rs731684 T C 64 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6659,C/0.3341;Gene=POC1A/NM_001161580.1/0;CC=c.*62A>G;VC=3UTR;Gene=POC1A/NM_001161581.1/1;CC=c.*62A>G;VC=3UTR;Gene=POC1A/NM_015426.4/0;CC=c.*62A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:37:36:0:0:20,17:652,532:63.67,0.00:59.08,0.00:4.59,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:52.3,5.8:0,0:0,0:51,36:86,114:30,27:NM_001161581.1(POC1A) c.*62A>G,-:0.33,-:NOT_FOUND,- 3 52110002 . C . . NT END=52130584;NT GT ./. 3 52130729 . C . . NT END=52156394;NT GT ./. 3 52156494 . C . . NT END=52159128;NT GT ./. 3 52159198 . C . . NT END=52172184;NT GT ./. 3 52172319 . C . . NT END=52179861;NT GT ./. 3 52179978 . C . . NT END=52181003;NT GT ./. 3 52181112 . C . . NT END=52183225;NT GT ./. 3 52183406 . C . . NT END=52183831;NT GT ./. 3 52184004 . C . . NT END=52185031;NT GT ./. 3 52185094 . T C 103 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=84;PC=1.000;Gene=POC1A/NM_001161580.1/0;CC=c.41A>G;ProtCh=p.H14R;VC=Missense;Gene=POC1A/NM_001161581.1/1;CC=c.-74A>G;VC=5UTR;Gene=POC1A/NM_015426.4/0;CC=c.41A>G;ProtCh=p.H14R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:84:60:0:0:37,47:1102,1514:102.72,0.00:42.94,0.00:59.78,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.1,8.3:0,0:0,0:56,74:92,73:31,43:NM_001161581.1(POC1A) c.-74A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 52185188 . C . . NT END=52188370;NT GT ./. 3 52188308 rs6777340 T C 93 nt VT=SNV;PN=A;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.6591,C/0.3409;Gene=POC1A/NM_001161580.1/0;CC=c.18+63A>G;VC=Intron;Gene=POC1A/NM_001161581.1/1;CC=c.-168+63A>G;VC=Intron;Gene=POC1A/NM_015426.4/0;CC=c.18+63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:61:53:0:0:29,1,31:971,11,943:92.92,-0.03,0.00:54.61,0.03,0.00:38.31,-0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.6,147.0,5.9:0,0,0:0,0,0:34,34,47:117,113,96:18,0,17:NM_001161581.1(POC1A) c.-168+63A>G,-:0.33,-:0.207328,- 3 52188389 . G . . NT END=52232834;NT GT ./. 3 52228496 rs524986 T C 32 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5337,C/0.4663 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:275:31.74:29.76:1.99:1.00:1.00:1.00:60:48.9:0:0:76:75:8:NM_000688.5(ALAS1) c.-382-u3603T>C,NM_000688.5(ALAS1) c.-382-u3603T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52232865 . G . . NT END=52233225;NT GT ./. 3 52232979 rs3216487 A ATTTAC 60 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.5367,ATTTAC/0.4633;NP=30;Gene=ALAS1/NM_000688.5/0;CC=c.-33+117_-33+118insTACTT;VC=Intron;Gene=ALAS1/NM_001304443.1/0;CC=c.-21-256_-21-255insTACTT;VC=Intron;Gene=ALAS1/NM_001304444.1/1;CC=c.30+117_30+118insTACTT;VC=Intron;Gene=ALAS1/NM_199166.2/0;CC=c.-32-245_-32-244insTACTT;VC=Intron;DM=ALAS1/Aminotran_1_2;DM=ALAS1/Preseq_ALAS;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,ATTTAC:22:2:19:0:4,18:130,591:0.00,60.12:0.00,6.94:0.00,53.18:0.00,1.00:0.00,0.96:0.00,1.00:60,70:8.8,12.4:0,1:0,0:141,88:3,62:0,24:-,NM_000688.5(ALAS1) c.-33+115_-33+116insTTTAC:-,NOT_FOUND:-,NOT_FOUND 3 52233457 . G . . NT END=52236522;NT GT ./. 3 52236751 . G . . NT END=52237878;NT GT ./. 3 52236762 rs352169 G A 252 nt VT=SNV;PN=A;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.5992,A/0.4008;Gene=ALAS1/NM_000688.5/0;CC=c.427+12G>A;VC=Intron;Gene=ALAS1/NM_001304443.1/0;CC=c.427+12G>A;VC=Intron;Gene=ALAS1/NM_001304444.1/1;CC=c.478+12G>A;VC=Intron;Gene=ALAS1/NM_199166.2/0;CC=c.427+12G>A;VC=Intron;DM=ALAS1/Aminotran_1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:70:25:0:0:70:2185:251.78:54.77:197.01:1.00:1.00:1.00:60:37.0:0:0:113:36:22:NM_000688.5(ALAS1) c.427+12G>A,NM_000688.5(ALAS1) c.427+12G>A:0.45,0.45:0.475319,0.475319 3 52237970 rs352168 C T 256 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.6016,T/0.3984;PC=0.994;Gene=ALAS1/NM_000688.5/0;CC=c.519C>T;ProtCh=p.I173=;VC=Silent;Gene=ALAS1/NM_001304443.1/0;CC=c.519C>T;ProtCh=p.I173=;VC=Silent;Gene=ALAS1/NM_001304444.1/1;CC=c.570C>T;ProtCh=p.I190=;VC=Silent;Gene=ALAS1/NM_199166.2/0;CC=c.519C>T;ProtCh=p.I173=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:69:39:0:0:69:2234:256.23:104.45:151.78:1.00:1.00:1.00:60:37.2:0:0:68:78:41:NM_000688.5(ALAS1) c.519C>T (p.(=)),NM_000688.5(ALAS1) c.519C>T (p.(=)):0.45,0.45:0.472628,0.472628 3 52238029 . G . . NT END=52238708;NT GT ./. 3 52238656 rs352167 T C 98 nt VT=SNV;PN=A;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.5393,C/0.4607;Gene=ALAS1/NM_000688.5/0;CC=c.578-53T>C;VC=Intron;Gene=ALAS1/NM_001304443.1/0;CC=c.578-53T>C;VC=Intron;Gene=ALAS1/NM_001304444.1/1;CC=c.629-53T>C;VC=Intron;Gene=ALAS1/NM_199166.2/0;CC=c.578-53T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:24:0:0:27:849:97.70:70.47:27.22:1.00:1.00:1.00:60:67.6:0:0:46:104:31:NM_000688.5(ALAS1) c.578-53T>C,NM_000688.5(ALAS1) c.578-53T>C:0.48,0.48:NOT_FOUND,NOT_FOUND 3 52238677 rs352166 C T 114 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.5893,T/0.4107;Gene=ALAS1/NM_000688.5/0;CC=c.578-32C>T;VC=Intron;Gene=ALAS1/NM_001304443.1/0;CC=c.578-32C>T;VC=Intron;Gene=ALAS1/NM_001304444.1/1;CC=c.629-32C>T;VC=Intron;Gene=ALAS1/NM_199166.2/0;CC=c.578-32C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:27:0:0:31:995:114.24:75.02:39.22:1.00:1.00:1.00:60:66.2:0:0:46:97:25:NM_000688.5(ALAS1) c.578-32C>T,NM_000688.5(ALAS1) c.578-32C>T:0.45,0.45:0.478776,0.478776 3 52238932 . G . . NT END=52239854;NT GT ./. 3 52240040 . G . . NT END=52240587;NT GT ./. 3 52240768 . G . . NT END=52242098;NT GT ./. 3 52241835 rs6802320 T C 45 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.7161,C/0.2839;Gene=ALAS1/NM_000688.5/0;CC=c.1166-264T>C;VC=Intron;Gene=ALAS1/NM_001304443.1/0;CC=c.1166-264T>C;VC=Intron;Gene=ALAS1/NM_001304444.1/1;CC=c.1217-264T>C;VC=Intron;Gene=ALAS1/NM_199166.2/0;CC=c.1166-264T>C;VC=Intron;DM=ALAS1/Aminotran_1_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:12:0:0:12:392:44.90:44.90:0.00:1.00:1.00:0.00:60:41.8:0:0:44:107:33:NM_000688.5(ALAS1) c.1166-264T>C,NM_000688.5(ALAS1) c.1166-264T>C:0.32,0.32:NOT_FOUND,NOT_FOUND 3 52242264 . G . . NT END=52245298;NT GT ./. 3 52245568 . G . . NT END=52246273;NT GT ./. 3 52246437 . G . . NT END=52248035;NT GT ./. 3 52248197 . G . . NT END=52255232;NT GT ./. 3 52256697 rs352140 C T 835 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=229;DB;DBA=NA;PAF=C/0.5845,A/.,T/0.4155;Gene=TLR9/NM_017442.3/1;CC=c.1635G>A;ProtCh=p.P545=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:229:126:0:0:229:7261:835.00:351.55:483.45:1.00:1.00:1.00:60:39.7:0:0:75:70:35:NM_017442.3(TLR9) c.1635G>A (p.(=)),NM_017442.3(TLR9) c.1635G>A (p.(=)):0.46,0.46:0.481778,0.481778 3 52258329 . C . . NT END=52259542;NT GT ./. 3 52258372 rs352139 T C 227 nt VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.49,C/0.51;Gene=TLR9/NM_017442.3/1;CC=c.4-44A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:178:C:63:31:0:0:63:1974:227.30:69.22:158.08:1.00:1.00:1.00:60:40.6:0:0:112:37:17:NM_017442.3(TLR9) c.4-44A>G,NM_017442.3(TLR9) c.4-44A>G:0.53,0.53:0.587883,0.587883 3 52259546 . G . . NT END=52263049;NT GT ./. 3 52263218 . C . . NT END=52263676;NT GT ./. 3 52263799 . C . . NT END=52263935;NT GT ./. 3 52264087 . C . . NT END=52264885;NT GT ./. 3 52265012 . C . . NT END=52265142;NT GT ./. 3 52265248 . C . . NT END=52265459;NT GT ./. 3 52265556 . C . . NT END=52265959;NT GT ./. 3 52266139 . C . . NT END=52269044;NT GT ./. 3 52269123 . C . . NT END=52273007;NT GT ./. 3 52272945 rs397741978 C CG 327 idl,rn VT=INS;SST=Single;DP=121;DB;DBA=NA;PAF=C/0.1837,CG/0.8163,CGG/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.1837,CG/0.8163;NP=1;NP=1050;Gene=TWF2/NM_007284.3/1;CC=c.25+62dupC;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CG:118:108:100:0:21,97:602,3144:0.00,327.19:0.00,254.65:0.00,72.54:0.00,1.00:0.00,1.00:0.00,1.00:60,70:30.1,19.1:1,3:0,0:66,47:73,101:38,21:-,NM_007284.3(TWF2) c.25+62_25+63insC:-,NOT_FOUND:-,NOT_FOUND 3 52273033 . G . . NT END=52279840;NT GT ./. 3 52280065 . G . . NT END=52280185;NT GT ./. 3 52280331 . G . . NT END=52280710;NT GT ./. 3 52280829 . G . . NT END=52280989;NT GT ./. 3 52280973 . G A 187 nt VT=SNV;PN=T;NN=A;SST=Single;DP=124;Gene=PPM1M/NM_144641.3/1;CC=c.343-17G>A;VC=Intron;Gene=PPM1M/NM_001122870.2/0;CC=c.-40+145G>A;VC=Intron;DM=PPM1M/PP2C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:124:99:0:0:65,59:1935,1971:187.06,0.00:121.22,0.00:65.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,15.5:0,0:0,0:50,69:100,77:36,32:NM_144641.3(PPM1M) c.343-17G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 52281245 . G . . NT END=52281697;NT GT ./. 3 52281811 . G . . NT END=52282168;NT GT ./. 3 52282254 . G . . NT END=52282350;NT GT ./. 3 52282470 . G . . NT END=52282652;NT GT ./. 3 52282717 . G . . NT END=52282971;NT GT ./. 3 52283080 . G . . NT END=52283189;NT GT ./. 3 52283339 . G . . NT END=52283660;NT GT ./. 3 52283831 . G . . NT END=52291505;NT GT ./. 3 52291536 . C . . NT END=52292551;NT GT ./. 3 52292695 . C . . NT END=52293212;NT GT ./. 3 52293283 . C . . NT END=52293732;NT GT ./. 3 52293889 . C . . NT END=52294400;NT GT ./. 3 52294518 . C . . NT END=52295395;NT GT ./. 3 52295496 . C . . NT END=52300967;NT GT ./. 3 52301035 . C . . NT END=52304727;NT GT ./. 3 52304826 . C . . NT END=52312216;NT GT ./. 3 52312378 . g . . NT END=52324358;NT GT ./. 3 52324736 . G . . NT END=52324975;NT GT ./. 3 52325128 . G . . NT END=52325760;NT GT ./. 3 52325759 rs2276834 A G 240 nt VT=SNV;PN=G;NN=G;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.491,G/0.509;PC=0.966;Gene=GLYCTK/NM_001144951.1/0;CC=c.530-517A>G;VC=Intron;Gene=GLYCTK/NM_145262.3/1;CC=c.530-4A>G;VC=Intron;Gene=GLYCTK/NR_026699.1/0;VC=NonCoding;Gene=GLYCTK/NR_026700.1/0;VC=NonCoding;Gene=GLYCTK/NR_026701.1/0;VC=NonCoding;Gene=GLYCTK/NR_026702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:52:0:0:66:2084:239.77:151.52:88.26:1.00:1.00:1.00:60:40.2:0:0:57:90:26:NM_145262.3(GLYCTK) c.530-4A>G,NM_145262.3(GLYCTK) c.530-4A>G:0.53,0.53:0.549131,0.549131 3 52325939 . G . . NT END=52326275;NT GT ./. 3 52327143 . T . . NT END=52356458;NT GT ./. 3 52356792 . G . . NT END=52357823;NT GT ./. 3 52357897 . G . . NT END=52360155;NT GT ./. 3 52360331 . G . . NT END=52360750;NT GT ./. 3 52360908 . G . . NT END=52361897;NT GT ./. 3 52362031 . G . . NT END=52365163;NT GT ./. 3 52365326 . G . . NT END=52366157;NT GT ./. 3 52365389 rs186457523 G A 148 nt VT=SNV;PN=A;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.999,A/0.0009984;NP=2;PC=0.001;Gene=DNAH1/NM_015512.4/1;CC=c.1033+64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:88:29:0:0:46,41,1:1518,1290,11:147.55,0.00,-0.06:40.94,0.00,-0.03:106.61,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:44.7,5.6,119.0:0,0,0:0,0,0:101,119,120:49,24,31:19,28,0:NM_015512.4(DNAH1) c.1033+64G>A,-:0.0005,-:NOT_FOUND,- 3 52366411 . G . . NT END=52378505;NT GT ./. 3 52378664 . G . . NT END=52379510;NT GT ./. 3 52379723 . G . . NT END=52380487;NT GT ./. 3 52380787 . G . . NT END=52381839;NT GT ./. 3 52381991 . G . . NT END=52382903;NT GT ./. 3 52383098 . G . . NT END=52383210;NT GT ./. 3 52383437 . G . . NT END=52384004;NT GT ./. 3 52383843 rs61734645 A G 116 nt VT=SNV;PN=C;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.9804,G/0.01957;Gene=DNAH1/NM_015512.4/1;CC=c.2527-162A>G;VC=Intron;DM=DNAH1/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:G:36:36:0:0:36:987:115.60:115.60:0.00:1.00:1.00:0.00:60:39.5:0:0:35:115:23:NM_015512.4(DNAH1) c.2527-162A>G,NM_015512.4(DNAH1) c.2527-162A>G:0.03,0.03:NOT_FOUND,NOT_FOUND 3 52384125 . G . . NT END=52384523;NT GT ./. 3 52384607 . G . . NT END=52385977;NT GT ./. 3 52386120 . G . . NT END=52386567;NT GT ./. 3 52386724 . G . . NT END=52387118;NT GT ./. 3 52387318 . G . . NT END=52387395;NT GT ./. 3 52387650 . G . . NT END=52388858;NT GT ./. 3 52388650 . GA G 15 idl,rn VT=DEL;SST=Single;DP=20;NP=1;PC=0.001;Gene=DNAH1/NM_015512.4/1;CC=c.3481-193delA;VC=Intron;DM=DNAH1/DHC_N2;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,GA,I,G:19:19:2:6:1,11,2,5:33,310,51,199:2.23,0.00,3.56,14.51:-0.24,0.00,3.56,14.51:2.48,0.00,0.00,0.00:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.50:60,60,60,70:63.0,54.6,33.5,4.0:1,0,0,1:0,0,0,0:52,39,53,51:99,112,91,99:0,25,7,41:-,NM_015512.4(DNAH1) c.3481-208delA:-,NOT_FOUND:-,NOT_FOUND 3 52389072 . G . . NT END=52390629;NT GT ./. 3 52390795 . G . . NT END=52391629;NT GT ./. 3 52391752 . G . . NT END=52391913;NT GT ./. 3 52392020 . G . . NT END=52392573;NT GT ./. 3 52392754 . G . . NT END=52393261;NT GT ./. 3 52393403 . G . . NT END=52393931;NT GT ./. 3 52394096 . G . . NT END=52394326;NT GT ./. 3 52394441 . G . . NT END=52395179;NT GT ./. 3 52395369 . G . . NT END=52395676;NT GT ./. 3 52395783 . G . . NT END=52396403;NT GT ./. 3 52396518 . G . . NT END=52397010;NT GT ./. 3 52397161 . G . . NT END=52398653;NT GT ./. 3 52398741 . G . . NT END=52398848;NT GT ./. 3 52399036 . G . . NT END=52400472;NT GT ./. 3 52400565 . G . . NT END=52400748;NT GT ./. 3 52400904 . G . . NT END=52402756;NT GT ./. 3 52402935 . G . . NT END=52403840;NT GT ./. 3 52404036 . G . . NT END=52404125;NT GT ./. 3 52404246 . G . . NT END=52404492;NT GT ./. 3 52404652 . G . . NT END=52404733;NT GT ./. 3 52404842 . G . . NT END=52405961;NT GT ./. 3 52406103 . G . . NT END=52406242;NT GT ./. 3 52406404 . G . . NT END=52406911;NT GT ./. 3 52407041 rs1546737 C T 523 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=144;DB;DBA=NA;PAF=C/0.7995,T/0.2005;PC=0.021;Gene=DNAH1/NM_015512.4/1;CC=c.6957C>T;ProtCh=p.H2319=;VC=Silent;DM=DNAH1/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:144:91:0:0:1,143:33,4581:0.00,523.48:0.00,224.13:0.00,299.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:119.0,43.1:0,0:0,0:74,78:63,64:0,33:NM_015512.4(DNAH1) c.6957C>T (p.(=)),NM_015512.4(DNAH1) c.6957C>T (p.(=)):0.23,0.23:0.242185,0.242185 3 52407070 . G . . NT END=52409255;NT GT ./. 3 52409058 rs36095568 TA T 42 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TA/0.6188,T/0.3812;DB;DBA=NA;PAF=TA/0.6188,T/0.3812;NP=144;PC=0.740;Gene=DNAH1/NM_015512.4/1;CC=c.6986-185delA;VC=Intron;DM=DNAH1/AAA_7;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:13:12:397:41.70:38.06:3.64:1.00:1.00:0.95:70:12.1:1:0:41:109:15:NM_015512.4(DNAH1) c.6986-197delA,NM_015512.4(DNAH1) c.6986-197delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52409430 . G . . NT END=52409970;NT GT ./. 3 52410010 . G . . NT END=52412617;NT GT ./. 3 52412797 . G . . NT END=52413920;NT GT ./. 3 52414152 . G . . NT END=52415655;NT GT ./. 3 52415853 . G . . NT END=52416335;NT GT ./. 3 52415865 rs770284 A G 369 nt VT=SNV;PN=C;NN=G;SST=Single;DP=104;DB;DBA=NA;PAF=NA;NP=2380;Gene=DNAH1/NM_015512.4/1;CC=c.7805+13A>G;VC=Intron;DM=DNAH1/AAA_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:104:51:0:0:1,103:28,3210:1.30,369.32:0.00,111.82:1.30,257.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:63.0,35.9:0,0:0,0:147,97:4,47:0,24:NM_015512.4(DNAH1) c.7805+13A>G,NM_015512.4(DNAH1) c.7805+13A>G:1,1:NOT_FOUND,NOT_FOUND 3 52416472 . G . . NT END=52417401;NT GT ./. 3 52417611 . G . . NT END=52417875;NT GT ./. 3 52418048 . G . . NT END=52418801;NT GT ./. 3 52418994 . G . . NT END=52419352;NT GT ./. 3 52419464 . G . . NT END=52420175;NT GT ./. 3 52420362 . G . . NT END=52420677;NT GT ./. 3 52420870 . G . . NT END=52422182;NT GT ./. 3 52422351 . G . . NT END=52422433;NT GT ./. 3 52422626 . G . . NT END=52422821;NT GT ./. 3 52422954 . G . . NT END=52423476;NT GT ./. 3 52423603 . G . . NT END=52424950;NT GT ./. 3 52425071 . G . . NT END=52425194;NT GT ./. 3 52425345 . G . . NT END=52425458;NT GT ./. 3 52425620 . G . . NT END=52426479;NT GT ./. 3 52426706 . G . . NT END=52426845;NT GT ./. 3 52427042 . G . . NT END=52427349;NT GT ./. 3 52427502 . G . . NT END=52428480;NT GT ./. 3 52428678 . G . . NT END=52428930;NT GT ./. 3 52429076 . G . . NT END=52429323;NT GT ./. 3 52429483 . G . . NT END=52429562;NT GT ./. 3 52429695 . G . . NT END=52430383;NT GT ./. 3 52430555 . G . . NT END=52430633;NT GT ./. 3 52430698 rs365048 A G 450 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=126;DB;DBA=NA;PAF=G/0.003594,A/0.9964,C/.;NP=1;NP=3453;PC=0.976;Gene=DNAH1/NM_015512.4/1;CC=c.11495A>G;ProtCh=p.H3832R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:126:73:0:0:126:3908:450.21:185.20:265.01:1.00:1.00:1.00:60:40.5:0:0:74:75:33:NM_015512.4(DNAH1) c.=,NM_015512.4(DNAH1) c.=:1,1:0.995485,0.995485 3 52430814 . G . . NT END=52430883;NT GT ./. 3 52431060 . C T 122 nt VT=SNV;PN=A;NN=G;SST=Single;DP=76;PC=0.865;Gene=DNAH1/NM_015512.4/1;CC=c.11787C>T;ProtCh=p.H3929=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:76:42:0:0:37,39:1157,1258:0.00,121.60:0.00,49.16:0.00,72.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,37.9:0,0:0,0:84,102:58,49:25,34:-,NM_015512.4(DNAH1) c.11787C>T (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 52431061 . G . . NT END=52431722;NT GT ./. 3 52431894 . G . . NT END=52432047;NT GT ./. 3 52432179 . G . . NT END=52432865;NT GT ./. 3 52433218 . G . . NT END=52433560;NT GT ./. 3 52433796 . G . . NT END=52434340;NT GT ./. 3 52434463 . A . . NT END=52436303;NT GT ./. 3 52436438 . C . . NT END=52436617;NT GT ./. 3 52436691 . C . . NT END=52436794;NT GT ./. 3 52436957 . C . . NT END=52437153;NT GT ./. 3 52437315 . C . . NT END=52437431;NT GT ./. 3 52437911 . C . . NT END=52438468;NT GT ./. 3 52438603 . C . . NT END=52439125;NT GT ./. 3 52439311 . C . . NT END=52439780;NT GT ./. 3 52439929 . C . . NT END=52440268;NT GT ./. 3 52440393 . C . . NT END=52440844;NT GT ./. 3 52440924 . C . . NT END=52441189;NT GT ./. 3 52441333 . C . . NT END=52441414;NT GT ./. 3 52441477 . C . . NT END=52441973;NT GT ./. 3 52442094 . C . . NT END=52442489;NT GT ./. 3 52442623 . C . . NT END=52443569;NT GT ./. 3 52443625 . C . . NT END=52443729;NT GT ./. 3 52443760 . C . . NT END=52443857;NT GT ./. 3 52443895 . C . . NT END=52446895;NT GT ./. 3 52446937 . G . . NT END=52448011;NT GT ./. 3 52448065 . G . . NT END=52448511;NT GT ./. 3 52448604 . G . . NT END=52453848;NT GT ./. 3 52453893 rs498778 C T 132 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.02855,T/0.9714;PC=0.985;Gene=PHF7/NM_016483.5/1;CC=c.231C>T;ProtCh=p.G77=;VC=Silent;Gene=PHF7/NM_001278221.1/0;CC=c.231C>T;ProtCh=p.G77=;VC=Silent;DM=PHF7/zf-HC5HC2H;DM=PHF7/zf-HC5HC2H GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:27:0:0:36:1151:132.26:66.28:65.98:1.00:1.00:1.00:60:46.2:0:0:96:50:33:NM_016483.4(PHF7) c.231C>T (p.(=)),NM_016483.4(PHF7) c.231C>T (p.(=)):0.97,0.97:0.961556,0.961556 3 52453951 . G . . NT END=52454326;NT GT ./. 3 52454452 . G . . NT END=52454918;NT GT ./. 3 52455079 . G . . NT END=52455663;NT GT ./. 3 52455771 . G . . NT END=52456237;NT GT ./. 3 52456355 . G . . NT END=52456775;NT GT ./. 3 52456898 . G . . NT END=52457106;NT GT ./. 3 52456973 rs2272088 A G 213 nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=A/0.739,G/0.261;Gene=PHF7/NM_016483.5/1;CC=c.919+76A>G;VC=Intron;Gene=PHF7/NM_001278221.1/0;CC=c.802+76A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:G:57:26:0:0:57:1854:212.54:79.03:133.51:1.00:1.00:1.00:60:37.6:0:0:101:47:22:NM_016483.4(PHF7) c.919+76A>G,NM_016483.4(PHF7) c.919+76A>G:0.3,0.3:NOT_FOUND,NOT_FOUND 3 52457334 . C . . NT END=52469687;NT GT ./. 3 52470090 . C . . NT END=52471542;NT GT ./. 3 52471683 . C . . NT END=52471986;NT GT ./. 3 52471942 rs82825 G A 194 nt VT=SNV;PN=G;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.1639,A/0.8361;Gene=SEMA3G/NM_020163.1/1;CC=c.1738+45C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:A:55:49:0:0:55:1676:193.64:159.02:34.61:1.00:1.00:1.00:60:39.3:0:0:35:115:25:NM_020163.1(SEMA3G) c.1738+45C>T,NM_020163.1(SEMA3G) c.1738+45C>T:0.84,0.84:0.809438,0.809438 3 52472216 . C . . NT END=52472427;NT GT ./. 3 52472978 . C . . NT END=52473695;NT GT ./. 3 52473788 . C . . NT END=52473882;NT GT ./. 3 52474115 . C . . NT END=52474392;NT GT ./. 3 52474538 . C . . NT END=52474769;NT GT ./. 3 52474840 . C . . NT END=52474949;NT GT ./. 3 52475065 . C . . NT END=52475279;NT GT ./. 3 52475426 . C . . NT END=52475589;NT GT ./. 3 52475707 . C . . NT END=52475834;NT GT ./. 3 52475926 . C . . NT END=52476200;NT GT ./. 3 52476321 . C . . NT END=52476574;NT GT ./. 3 52476638 . C . . NT END=52476762;NT GT ./. 3 52476924 . C . . NT END=52477031;NT GT ./. 3 52477080 rs2016575 T C 185 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.1609,C/0.8391;Gene=SEMA3G/NM_020163.1/1;CC=c.116-157A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:135:C,T:53:27:0:0:52,1:1625,13:185.27,0.00:68.25,0.00:117.02,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,13.0:0,0:0,0:90,71:59,80:28,0:NM_020163.1(SEMA3G) c.116-157A>G,NM_020163.1(SEMA3G) c.116-157A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 52477086 . C . . NT END=52478928;NT GT ./. 3 52478722 rs112819249 T A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.010;Gene=SEMA3G/NM_020163.1/1;CC=c.115+207A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,T:5:5:0:0:4,1:88,35:9.55,0.00:9.55,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:67.5,35.0:0,0:0,0:58,116:76,31:40,0:NM_020163.1(SEMA3G) c.115+207A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 52478723 rs371644261 C G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.008;Gene=SEMA3G/NM_020163.1/1;CC=c.115+206G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,G:6:6:0:0:3,3:77,100:0.00,9.63:0.00,9.63:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:50.0,62.3:0,0:0,0:102,9:27,141:6,9:-,NM_020163.1(SEMA3G) c.115+206G>C:-,NOT_FOUND:-,NOT_FOUND 3 52478783 rs530734897 CGCACACAAACACTGCACAT C 22 nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=CGCACACAAACACTGCACAT/0.04653,C/0.9535;NP=85;PC=0.018;Gene=SEMA3G/NM_020163.1/1;CC=c.115+127_115+145delATGTGCAGTGTTTGTGTGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGCACACAAACACTGCACAT,C:15:15:0:8:7,8:231,226:0.00,21.72:0.00,21.72:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:121.0,18.2:0,0:0,0:14,47:137,103:1,5:-,NM_020163.1(SEMA3G) c.115+127_115+145delATGTGCAGTGTTTGTGTGC:-,NOT_FOUND:-,NOT_FOUND 3 52478794 rs137870101 A T 31 idl,nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=11;Gene=SEMA3G/NM_020163.1/1;CC=c.115+135T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:9:8:268:30.61:30.61:0.00:1.00:1.00:0.00:60:121.6:0:0:21:130:4:NM_020163.1(SEMA3G) c.115+135T>A,NM_020163.1(SEMA3G) c.115+135T>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52478796 rs144523509 T G 31 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=18;PC=0.001;Gene=SEMA3G/NM_020163.1/1;CC=c.115+133A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:9:9:271:31.39:31.39:0.00:1.00:1.00:0.00:60:114.7:0:0:20:131:7:NM_020163.1(SEMA3G) c.115+133A>C,NM_020163.1(SEMA3G) c.115+133A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52478802 rs113966471 T C 38 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.03934,C/0.9607;NP=50;PC=0.018;Gene=SEMA3G/NM_020163.1/1;CC=c.115+127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:9:10:335:38.27:38.27:0.00:1.00:1.00:0.00:60:106.5:0:0:24:127:9:NM_020163.1(SEMA3G) c.115+127A>G,NM_020163.1(SEMA3G) c.115+127A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52479113 . G . . NT END=52485290;NT GT ./. 3 52485323 . C . . NT END=52485406;NT GT ./. 3 52485544 . C . . NT END=52485759;NT GT ./. 3 52485875 . C . . NT END=52486121;NT GT ./. 3 52486269 . C . . NT END=52486498;NT GT ./. 3 52486530 . C . . NT END=52488007;NT GT ./. 3 52488032 . G . . NT END=52489657;NT GT ./. 3 52488202 rs1035002 C T 117 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.02995,T/0.97 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:0:0:0:33:1011:116.74:0.00:116.74:1.00:0.00:1.00:60:44.0:0:0:117:28:26:NM_003280.2(TNNC1) c.-26-u145G>A,NM_003280.2(TNNC1) c.-26-u145G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52489564 rs968588 A T 191 nt VT=SNV;PN=G;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.02875,T/0.9712;PC=0.281;Gene=NISCH/NM_001276293.1/0;CC=c.-94A>T;VC=5UTR;Gene=NISCH/NM_001276294.1/0;CC=c.-94A>T;VC=5UTR;Gene=NISCH/NM_007184.3/1;CC=c.-94A>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:G,T:62:62:0:0:1,61:9,1627:0.12,191.03:0.12,174.66:0.00,16.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:66.0,31.7:0,0:0,0:107,41:44,109:0,28:NM_007184.3(NISCH) c.-94A>T,NM_007184.3(NISCH) c.-94A>T:0.94,0.94:NOT_FOUND,NOT_FOUND 3 52489751 . G . . NT END=52491858;NT GT ./. 3 52491943 . G . . NT END=52492677;NT GT ./. 3 52492085 rs4687614 G A 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.03834,A/0.9617;Gene=NISCH/NM_001276293.1/0;CC=c.177+143G>A;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.177+143G>A;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.177+143G>A;VC=Intron;DM=NISCH/PX;DM=NISCH/PX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:223:25.64:0.00:25.64:1.00:0.00:1.00:60:47.3:0:0:104:47:14:NM_007184.3(NISCH) c.177+143G>A,NM_007184.3(NISCH) c.177+143G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 3 52492475 rs9850471 A G 48 nt VT=SNV;PN=T;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.02815,G/0.9718;Gene=NISCH/NM_001276293.1/0;CC=c.178-203A>G;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.178-203A>G;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.178-203A>G;VC=Intron;DM=NISCH/PX;DM=NISCH/PX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:G:14:14:0:0:14:412:47.79:47.79:0.00:1.00:1.00:0.00:60:44.7:0:0:42:108:32:NM_007184.3(NISCH) c.178-203A>G,NM_007184.3(NISCH) c.178-203A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 52492707 rs1541495 T C 257 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.04473,C/0.9553;PC=0.218;Gene=NISCH/NM_001276293.1/0;CC=c.207T>C;ProtCh=p.N69=;VC=Silent;Gene=NISCH/NM_001276294.1/0;CC=c.207T>C;ProtCh=p.N69=;VC=Silent;Gene=NISCH/NM_007184.3/1;CC=c.207T>C;ProtCh=p.N69=;VC=Silent;DM=NISCH/PX;DM=NISCH/PX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:55:0:0:71:2235:257.16:165.48:91.68:1.00:1.00:1.00:60:39.3:0:0:53:83:36:NM_007184.3(NISCH) c.207T>C (p.(=)),NM_007184.3(NISCH) c.207T>C (p.(=)):0.95,0.95:0.947178,0.947178 3 52492861 . G . . NT END=52504874;NT GT ./. 3 52504924 . G . . NT END=52505829;NT GT ./. 3 52505525 rs929529 T C 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.02875,C/0.9712;PC=0.002;Gene=NISCH/NM_001276293.1/0;CC=c.410-305T>C;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.410-305T>C;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.410-305T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:166:18.98:18.98:0.00:1.00:1.00:0.00:60:42.8:0:0:49:102:9:NM_007184.3(NISCH) c.410-305T>C,NM_007184.3(NISCH) c.410-305T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52505758 rs3065763 G GAT 206 nt VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3858,GAT/0.6142;NP=3184;PC=0.002;Gene=NISCH/NM_001276293.1/0;CC=c.410-72_410-71insAT;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.410-72_410-71insAT;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.410-72_410-71insAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:T,GAT:58:54:56:0:2,56:61,1801:4.12,205.96:4.12,168.69:0.00,37.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.5,2.7:0,0:0,0:0,43:150,101:0,30:NM_007184.3(NISCH) c.410-72_410-71insAT,NM_007184.3(NISCH) c.410-72_410-71insAT:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52505994 . G . . NT END=52506318;NT GT ./. 3 52506282 rs4312651 A G 255 nt VT=SNV;PN=G;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=A/0.02835,G/0.9716;Gene=NISCH/NM_001276293.1/0;CC=c.574-37A>G;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.574-37A>G;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.574-37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:55:0:0:68:2223:254.56:140.52:114.03:1.00:1.00:1.00:60:40.5:0:0:45:98:23:NM_007184.3(NISCH) c.574-37A>G,NM_007184.3(NISCH) c.574-37A>G:0.97,0.97:0.960864,0.960864 3 52506415 . G . . NT END=52507749;NT GT ./. 3 52506426 rs6784615 C T 207 nt VT=SNV;PN=G;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=C/0.03694,T/0.9631;Gene=NISCH/NM_001276293.1/0;CC=c.669+12C>T;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.669+12C>T;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.669+12C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:T:56:28:0:0:56:1799:206.53:70.86:135.67:1.00:1.00:1.00:60:56.8:0:0:89:55:28:NM_007184.3(NISCH) c.669+12C>T,NM_007184.3(NISCH) c.669+12C>T:0.96,0.96:0.955251,0.955251 3 52506491 rs6445486 A G 92 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.02835,G/0.9716;PC=0.007;Gene=NISCH/NM_001276293.1/0;CC=c.669+77A>G;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.669+77A>G;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.669+77A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:6:0:0:27:797:92.43:14.12:78.31:1.00:1.00:1.00:60:65.9:0:0:110:41:28:NM_007184.3(NISCH) c.669+77A>G,NM_007184.3(NISCH) c.669+77A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 52507719 rs13094915 G C 140 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;PC=0.002;Gene=NISCH/NM_001276293.1/0;CC=c.670-31G>C;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.670-31G>C;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.670-31G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:93:C,T:38:31:0:0:37,1:1227,10:139.88,0.22:99.59,0.00:40.29,0.22:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,128.0:0,0:0,0:43,39:103,112:25,0:NM_007184.3(NISCH) c.670-31G>C,NM_007184.3(NISCH) c.670-31G>C:0.49,0.49:0.440643,0.440643 3 52507846 . G . . NT END=52510462;NT GT ./. 3 52510592 rs9856575 G A 262 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.00639,A/0.9936;PC=1.000;Gene=NISCH/NM_001276293.1/0;CC=c.895G>A;ProtCh=p.V299I;VC=Missense;Gene=NISCH/NM_001276294.1/0;CC=c.895G>A;ProtCh=p.V299I;VC=Missense;Gene=NISCH/NM_007184.3/1;CC=c.895G>A;ProtCh=p.V299I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:71:42:0:0:71:2284:262.13:106.76:155.37:1.00:1.00:1.00:60:43.3:0:0:92:40:36:NM_007184.3(NISCH) c.=,NM_007184.3(NISCH) c.=:0.99,0.99:0.984853,0.984853 3 52510616 . G . . NT END=52511589;NT GT ./. 3 52510697 rs7620015 G A 104 sb,nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.03554,A/0.9645;PC=0.015;Gene=NISCH/NM_001276293.1/0;CC=c.918+82G>A;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.918+82G>A;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.918+82G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:1:0:0:29:903:104.05:1.89:102.16:1.00:1.00:1.00:60:48.4:0:0:94:57:24:NM_007184.3(NISCH) c.918+82G>A,NM_007184.3(NISCH) c.918+82G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52511659 . G . . NT END=52512112;NT GT ./. 3 52512299 . G . . NT END=52512388;NT GT ./. 3 52512318 rs2109559 A G 303 nt VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.03534,C/.,G/0.9647;PC=0.005;Gene=NISCH/NM_001276293.1/0;CC=c.1173+20A>G;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.1173+20A>G;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.1173+20A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:88:49:0:0:87,1:2620,11:302.82,0.14:145.97,0.00:156.84,0.14:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,11.0:0,0:0,0:83,79:66,72:30,0:NM_007184.3(NISCH) c.1173+20A>G,NM_007184.3(NISCH) c.1173+20A>G:0.96,0.96:0.957942,0.957942 3 52512594 . G . . NT END=52513764;NT GT ./. 3 52513879 . G . . NT END=52514199;NT GT ./. 3 52513940 rs4687618 T C 162 nt VT=SNV;PN=T;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.02835,C/0.9716;Gene=NISCH/NM_001276293.1/0;CC=c.1416+62T>C;VC=Intron;Gene=NISCH/NM_001276294.1/0;CC=c.1416+62T>C;VC=Intron;Gene=NISCH/NM_007184.3/1;CC=c.1416+62T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:48:11:0:0:48:1396:162.05:32.92:129.13:1.00:1.00:1.00:60:44.4:0:0:79:71:39:NM_007184.3(NISCH) c.1416+62T>C,NM_007184.3(NISCH) c.1416+62T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52515533 rs758803 T C 571 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=162;DB;DBA=NA;PAF=T/0.02855,C/0.9714;Gene=NISCH/NM_001276293.1/0;CC=c.*998T>C;VC=3UTR;Gene=NISCH/NM_001276294.1/0;CC=c.*619T>C;VC=3UTR;Gene=NISCH/NM_007184.3/1;CC=c.1528+1222T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:162:108:0:0:162:4940:570.76:284.10:286.66:1.00:1.00:1.00:60:36.9:0:0:63:81:37:NM_007184.3(NISCH) c.1528+1222T>C,NM_007184.3(NISCH) c.1528+1222T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52515927 . T . . NT END=52518528;NT GT ./. 3 52518348 rs377410215 CTTGAG C 17 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;PC=0.163;Gene=NISCH/NM_007184.3/1;CC=c.1529-178_1529-174delGAGTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:185:CTTGAG,C:20:20:0:8:12,8:400,187:0.00,16.65:0.00,16.65:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.9,29.5:0,0:0,0:60,69:91,80:36,23:-,NM_007184.3(NISCH) c.1529-180_1529-176delTTGAG:-,NOT_FOUND:-,NOT_FOUND 3 52518654 . G . . NT END=52519793;NT GT ./. 3 52518786 rs4687619 T C 98 nt VT=SNV;PN=G;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.02835,C/0.9716;Gene=NISCH/NM_007184.3/1;CC=c.1653+133T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A,C:30:2:0:0:1,29:11,843:0.33,97.68:0.00,6.09:0.33,91.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:118.0,39.5:0,1:0,0:67,108:83,43:0,33:NM_007184.3(NISCH) c.1653+133T>C,NM_007184.3(NISCH) c.1653+133T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52519844 . G . . NT END=52521211;NT GT ./. 3 52522622 . G . . NT END=52523351;NT GT ./. 3 52522659 rs887514 T C 160 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.03594,C/0.9641;Gene=NISCH/NM_007184.3/1;CC=c.3113+38T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:C:50:13:0:0:50:1363:159.59:28.94:130.65:1.00:1.00:1.00:60:43.7:0:0:107:43:30:NM_007184.3(NISCH) c.3113+38T>C,NM_007184.3(NISCH) c.3113+38T>C:0.96,0.96:0.961047,0.961047 3 52523405 rs887515 C T 277 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=C/0.2718,G/.,T/0.7282;Gene=NISCH/NM_007184.3/1;CC=c.3167C>T;ProtCh=p.A1056V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:79:58:0:0:1,1,77:12,11,2411:0.19,0.16,276.73:0.00,0.16,148.31:0.19,0.00,128.42:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.0,116.0,40.4:0,0,0:0,0,0:34,113,78:90,38,69:0,0,29:NM_007184.3(NISCH) c.3167C>T (p.Ala1056Val),NM_007184.3(NISCH) c.3167C>T (p.Ala1056Val):0.76,0.76:0.686509,0.686509 3 52523695 . G . . NT END=52524090;NT GT ./. 3 52524248 . G . . NT END=52524720;NT GT ./. 3 52524480 rs6445497 A T 86 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1221;Gene=NISCH/NM_007184.3/1;CC=c.3613+233A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:11:0:0:23:753:86.26:42.24:44.02:1.00:1.00:1.00:60:58.6:0:0:51:99:30:NM_007184.3(NISCH) c.3613+233A>T,NM_007184.3(NISCH) c.3613+233A>T:1,1:NOT_FOUND,NOT_FOUND 3 52524574 rs6810027 C A 131 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.02835,A/0.9716;Gene=NISCH/NM_007184.3/1;CC=c.3614-147C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:A:35:30:0:0:35:1147:131.36:109.93:21.42:1.00:1.00:1.00:60:52.9:0:0:65:85:47:NM_007184.3(NISCH) c.3614-147C>A,NM_007184.3(NISCH) c.3614-147C>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52524850 . G . . NT END=52525367;NT GT ./. 3 52524974 rs4687621 A C 137 nt VT=SNV;PN=A;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.02835,C/0.9716;Gene=NISCH/NM_007184.3/1;CC=c.3742+125A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:A,C:39:6:0:0:1,38:9,1206:0.00,137.11:0.00,17.73:0.00,119.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,41.0:0,0:0,0:98,101:51,48:0,33:NM_007184.3(NISCH) c.3742+125A>C,NM_007184.3(NISCH) c.3742+125A>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 52525530 . G . . NT END=52525887;NT GT ./. 3 52526499 . C . . NT END=52529429;NT GT ./. 3 52529266 rs758800 T C 60 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.05112,C/0.9489 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:522:60.25:60.25:0.00:1.00:1.00:0.00:60:47.7:0:0:16:134:12:NM_015136.2(STAB1) c.-74-u90T>C,NM_015136.2(STAB1) c.-74-u90T>C:0.93,0.93:NOT_FOUND,NOT_FOUND 3 52529508 . G . . NT END=52535181;NT GT ./. 3 52535319 . G . . NT END=52535653;NT GT ./. 3 52535770 . G . . NT END=52536021;NT GT ./. 3 52536108 . G . . NT END=52536174;NT GT ./. 3 52536245 . G . . NT END=52536647;NT GT ./. 3 52536308 rs758801 A C 246 nt VT=SNV;PN=T;NN=C;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.1114,C/0.8886;Gene=STAB1/NM_015136.2/1;CC=c.487+64A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:69:23:0:0:69:2133:245.96:58.47:187.49:1.00:1.00:1.00:60:43.7:0:0:117:34:23:NM_015136.2(STAB1) c.487+64A>C,NM_015136.2(STAB1) c.487+64A>C:0.89,0.89:0.854139,0.854139 3 52536514 rs731831 G A 128 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.7342,A/0.2658;Gene=STAB1/NM_015136.2/1;CC=c.488-134G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A:35:27:0:0:35:1113:127.92:101.45:26.47:1.00:1.00:1.00:60:40.7:0:0:56:94:41:NM_015136.2(STAB1) c.488-134G>A,NM_015136.2(STAB1) c.488-134G>A:0.34,0.34:NOT_FOUND,NOT_FOUND 3 52536744 . G . . NT END=52537014;NT GT ./. 3 52537126 . G . . NT END=52537359;NT GT ./. 3 52537557 . G . . NT END=52537787;NT GT ./. 3 52537919 . G . . NT END=52538043;NT GT ./. 3 52537969 rs4687545 T C 654 nt VT=SNV;PN=C;NN=C;SST=Single;DP=188;DB;DBA=NA;PAF=T/0.03954,A/.,C/0.9605;Gene=STAB1/NM_015136.2/1;CC=c.1022+51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:188:136:0:0:187,1:5656,14:653.66,0.13:362.66,0.13:291.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.2,67.0:0,0:0,0:73,85:76,66:44,0:NM_015136.2(STAB1) c.1022+51T>C,NM_015136.2(STAB1) c.1022+51T>C:0.95,0.95:0.945763,0.945763 3 52538172 . G . . NT END=52538476;NT GT ./. 3 52538566 . G . . NT END=52538754;NT GT ./. 3 52538893 . G . . NT END=52539018;NT GT ./. 3 52539160 . G . . NT END=52539334;NT GT ./. 3 52539398 . G . . NT END=52539683;NT GT ./. 3 52539798 . G . . NT END=52539898;NT GT ./. 3 52539953 . G . . NT END=52540185;NT GT ./. 3 52540267 . G . . NT END=52540707;NT GT ./. 3 52540544 rs1010552 G T 138 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.7384,T/0.2616;PC=0.003;Gene=STAB1/NM_015136.2/1;CC=c.1831-164G>T;VC=Intron;DM=STAB1/Fasciclin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T:38:35:0:0:38:1196:137.60:128.29:9.31:1.00:1.00:1.00:60:46.2:0:0:40:110:21:NM_015136.2(STAB1) c.1831-164G>T,NM_015136.2(STAB1) c.1831-164G>T:0.33,0.33:NOT_FOUND,NOT_FOUND 3 52540867 . G . . NT END=52541628;NT GT ./. 3 52541692 . G . . NT END=52541946;NT GT ./. 3 52542043 . G . . NT END=52542288;NT GT ./. 3 52542376 . G . . NT END=52543225;NT GT ./. 3 52543338 . G . . NT END=52543885;NT GT ./. 3 52544073 . G . . NT END=52544157;NT GT ./. 3 52544252 . G . . NT END=52544364;NT GT ./. 3 52544470 rs9835659 A G 619 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=170;DB;DBA=NA;PAF=A/0.008586,G/0.9914;Gene=STAB1/NM_015136.2/1;CC=c.2734A>G;ProtCh=p.M912V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:170:111:0:0:170:5382:618.90:271.62:347.28:1.00:1.00:1.00:60:38.6:0:0:69:75:36:NM_015136.2(STAB1) c.2734A>G (p.Met912Val),NM_015136.2(STAB1) c.2734A>G (p.Met912Val):0.99,0.99:0.9837,0.9837 3 52544524 . G . . NT END=52545665;NT GT ./. 3 52545762 . G . . NT END=52546356;NT GT ./. 3 52546116 rs758802 C G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.04193,G/0.9581;Gene=STAB1/NM_015136.2/1;CC=c.2884-241C>G;VC=Intron;DM=STAB1/EGF_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:206:23.46:15.71:7.75:1.00:1.00:1.00:60:40.7:0:0:39:111:35:NM_015136.2(STAB1) c.2884-241C>G,NM_015136.2(STAB1) c.2884-241C>G:0.95,0.95:NOT_FOUND,NOT_FOUND 3 52546453 . G . . NT END=52546611;NT GT ./. 3 52546487 rs7644763 C T 218 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.04493,T/0.9551;Gene=STAB1/NM_015136.2/1;CC=c.2979+35C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:166:T:59:30:0:0:59:1903:218.31:96.08:122.23:1.00:1.00:1.00:60:40.1:0:0:78:71:44:NM_015136.2(STAB1) c.2979+35C>T,NM_015136.2(STAB1) c.2979+35C>T:0.94,0.94:0.939259,0.939259 3 52546660 . G . . NT END=52546843;NT GT ./. 3 52546820 rs2015971 C T 431 nt VT=SNV;PN=G;NN=C;SST=Single;DP=124;DB;DBA=NA;PAF=C/0.6581,T/0.3419;Gene=STAB1/NM_015136.2/1;CC=c.3028-24C>T;VC=Intron;DM=STAB1/Fasciclin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:124:100:0:0:1,123:8,3743:0.00,431.06:0.00,265.61:0.00,165.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.0,39.5:0,0:0,0:139,55:12,90:0,26:NM_015136.2(STAB1) c.3028-24C>T,NM_015136.2(STAB1) c.3028-24C>T:0.42,0.42:0.365476,0.365476 3 52546975 . G . . NT END=52547145;NT GT ./. 3 52547258 . G . . NT END=52547732;NT GT ./. 3 52547811 . G . . NT END=52547898;NT GT ./. 3 52547998 . G . . NT END=52548130;NT GT ./. 3 52548230 . G . . NT END=52548380;NT GT ./. 3 52548513 . G . . NT END=52548716;NT GT ./. 3 52548846 . G . . NT END=52549004;NT GT ./. 3 52549062 . G . . NT END=52549438;NT GT ./. 3 52549523 . G . . NT END=52550058;NT GT ./. 3 52550255 . G . . NT END=52550371;NT GT ./. 3 52550468 . G . . NT END=52550557;NT GT ./. 3 52550604 . G . . NT END=52550707;NT GT ./. 3 52550785 . G . . NT END=52550999;NT GT ./. 3 52551126 . G . . NT END=52551335;NT GT ./. 3 52551265 rs66824127 T C 174 nt VT=SNV;PN=A;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.5401,C/0.4599;Gene=STAB1/NM_015136.2/1;CC=c.4490-71T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:138:C:50:40:0:0:50:1510:174.47:143.72:30.74:1.00:1.00:1.00:60:84.7:0:0:61:88:30:NM_015136.2(STAB1) c.4490-71T>C,NM_015136.2(STAB1) c.4490-71T>C:0.53,0.53:NOT_FOUND,NOT_FOUND 3 52551284 rs67409736 G T 152 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.4187,T/0.5813;Gene=STAB1/NM_015136.2/1;CC=c.4490-52G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:A,G,T:47:34:0:0:1,2,44:11,19,1344:0.22,0.00,152.03:-0.01,0.00,109.98:0.22,0.00,42.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:47.0,87.5,85.5:0,0,0:0,0,0:60,17,59:49,131,81:0,10,30:NM_015136.2(STAB1) c.4490-52G>T,NM_015136.2(STAB1) c.4490-52G>T:0.61,0.61:0.592341,0.592341 3 52551410 . G . . NT END=52551565;NT GT ./. 3 52551641 . G . . NT END=52551896;NT GT ./. 3 52552020 . G . . NT END=52552327;NT GT ./. 3 52552376 . G . . NT END=52552551;NT GT ./. 3 52552630 . G . . NT END=52552738;NT GT ./. 3 52552886 . G . . NT END=52553279;NT GT ./. 3 52552922 rs12486679 C CCCCGCCCCGCCCCGT 148 nt VT=INS;SST=Single;DP=100;DB;DBA=NA;PAF=NA;NP=1;Gene=STAB1/NM_015136.2/1;CC=c.5034+50_5034+51insGTCCCGCCCCGCCCC;VC=Intron;DM=STAB1/Fasciclin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CCCCGCCCCGCCCCGT:99:19:51:0:48,1,50:1447,9,1564:0.00,-0.13,147.66:0.00,-0.03,7.84:0.00,-0.10,139.82:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:12.5,78.0,10.8:1,0,1:0,0,0:122,5,65:14,146,85:13,0,20:-,NM_015136.2(STAB1) c.5034+37_5034+38insCCCGCCCCGCCCCGT:-,NOT_FOUND:-,NOT_FOUND 3 52553421 . G . . NT END=52553520;NT GT ./. 3 52553581 . G . . NT END=52553959;NT GT ./. 3 52553625 rs34375719 TGTAA T 220 nt VT=DEL;SST=Single;DP=69;DB;DBA=NA;PAF=TGTAA/0.5763,T/0.4237;DB;DBA=NA;PAF=TGTAA/0.5763,T/0.4237;NP=2227;Gene=STAB1/NM_015136.2/1;CC=c.5235+48_5235+51delAAGT;VC=Intron;DM=STAB1/Fasciclin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:TGTAA,T:69:27:0:64:5,64:159,1971:0.00,219.79:0.00,54.61:0.00,165.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.8,12.6:1,0:0,0:143,100:3,46:3,29:NM_015136.2(STAB1) c.5235+46_5235+49delGTAA,NM_015136.2(STAB1) c.5235+46_5235+49delGTAA:0.49,0.49:0.465548,0.465548 3 52554137 . G . . NT END=52554219;NT GT ./. 3 52554304 rs7630214 G C 430 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=G/0.01677,C/0.9832;PC=0.001;Gene=STAB1/NM_015136.2/1;CC=c.5497G>C;ProtCh=p.A1833P;VC=Missense;DM=STAB1/Fasciclin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:119:70:0:0:2,116,1:20,3764,11:0.32,430.18,0.10:0.00,212.59,0.00:0.32,217.59,0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:78.5,44.2,11.0:0,0,0:0,0,0:98,78,17:53,65,132:26,28,0:NM_015136.2(STAB1) c.5497G>C (p.Ala1833Pro),NM_015136.2(STAB1) c.5497G>C (p.Ala1833Pro):0.98,0.98:0.957174,0.957174 3 52554307 . G . . NT END=52554415;NT GT ./. 3 52554566 . G . . NT END=52554657;NT GT ./. 3 52554715 . G . . NT END=52554819;NT GT ./. 3 52554749 . T G 12 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=100;Gene=STAB1/NM_015136.2/1;CC=c.5706+35T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:24:A,C,G,T:100:85:0:0:1,1,13,85:10,11,221,2081:-0.27,-0.24,12.03,0.00:-0.24,-0.21,-4.13,0.00:-0.03,-0.03,16.16,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.90,0.00:60,60,60,60:23.0,43.0,78.9,15.9:0,0,0,0:0,0,0,0:59,124,37,87:92,12,104,58:0,0,10,34:NM_015136.2(STAB1) c.5706+35T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 52555022 . G . . NT END=52555376;NT GT ./. 3 52555316 rs13081028 G A 285 nt VT=SNV;PN=C;NN=T;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.4545,A/0.5455;Gene=STAB1/NM_015136.2/1;CC=c.5909-61G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:72:0:0:78:2480:285.00:224.77:60.23:1.00:1.00:1.00:60:41.0:0:0:47:96:25:NM_015136.2(STAB1) c.5909-61G>A,NM_015136.2(STAB1) c.5909-61G>A:0.59,0.59:NOT_FOUND,NOT_FOUND 3 52555527 . G . . NT END=52555611;NT GT ./. 3 52555717 . G . . NT END=52555859;NT GT ./. 3 52555957 rs9853056 T C 464 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.4363,C/0.5637;Gene=STAB1/NM_015136.2/1;CC=c.6261T>C;ProtCh=p.R2087=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:130:100:0:0:1,129:11,4030:0.10,463.53:0.10,303.73:0.00,159.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:32.0,38.6:0,0:0,0:119,62:31,85:0,37:NM_015136.2(STAB1) c.6261T>C (p.(=)),NM_015136.2(STAB1) c.6261T>C (p.(=)):0.61,0.61:0.614273,0.614273 3 52555968 . G . . NT END=52556052;NT GT ./. 3 52556247 . G . . NT END=52556345;NT GT ./. 3 52556491 . G . . NT END=52556570;NT GT ./. 3 52556705 . G . . NT END=52556790;NT GT ./. 3 52556890 rs4434138 A G 551 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=153;DB;DBA=NA;PAF=A/0.6587,G/0.3413;PC=0.993;Gene=STAB1/NM_015136.2/1;CC=c.6844A>G;ProtCh=p.I2282V;VC=Missense;DM=STAB1/Xlink GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:153:107:0:0:1,152:11,4805:0.00,550.66:0.00,277.04:0.00,273.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,37.4:0,0:0,0:14,56:137,88:0,33:NM_015136.2(STAB1) c.6844A>G (p.Ile2282Val),NM_015136.2(STAB1) c.6844A>G (p.Ile2282Val):0.42,0.42:0.376519,0.376519 3 52556957 . G . . NT END=52557040;NT GT ./. 3 52557038 rs4234633 C T 576 nt VT=SNV;PN=G;NN=A;SST=Single;DP=164;DB;DBA=NA;PAF=C/0.6651,A/.,T/0.3349;PC=0.980;Gene=STAB1/NM_015136.2/1;CC=c.6911-3C>T;VC=Intergenic GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,T:164:106:0:0:1,163:9,4993:0.05,576.09:0.00,286.07:0.05,290.02:0.00,1.00:0.00,1.00:0.00,1.00:60,60:110.0,37.9:0,0:0,0:136,73:-14,74:0,38:NM_015136.2(STAB1) c.6911-3C>T,NM_015136.2(STAB1) c.6911-3C>T:0.41,0.41:0.365831,0.365831 3 52557151 . G . . NT END=52557237;NT GT ./. 3 52557358 . G . . NT END=52557442;NT GT ./. 3 52557773 . G . . NT END=52557886;NT GT ./. 3 52558008 rs13303 T C 455 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=T/0.4515,A/.,C/0.5485;Gene=STAB1/NM_015136.2/1;CC=c.7517T>C;ProtCh=p.M2506T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:127:80:0:0:1,126:34,3962:1.79,455.33:1.79,236.61:0.00,218.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.0,41.9:0,0:0,0:116,88:35,60:0,34:NM_015136.2(STAB1) c.7517T>C (p.Met2506Thr),NM_015136.2(STAB1) c.7517T>C (p.Met2506Thr):0.6,0.6:0.597814,0.597814 3 52558034 . G . . NT END=52558115;NT GT ./. 3 52558133 rs13621 T C 461 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=130;DB;DBA=NA;PAF=T/0.609,A/.,C/0.391,G/.;Gene=STAB1/NM_015136.2/1;CC=c.7560T>C;ProtCh=p.D2520=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:130:93:0:0:130:3993:460.55:244.67:215.88:1.00:1.00:1.00:60:43.8:0:0:58:85:28:NM_015136.2(STAB1) c.7560T>C (p.(=)),NM_015136.2(STAB1) c.7560T>C (p.(=)):0.45,0.45:0.413886,0.413886 3 52558230 . G . . NT END=52558315;NT GT ./. 3 52558373 . C . . NT END=52558485;NT GT ./. 3 52558748 . C . . NT END=52558832;NT GT ./. 3 52558898 . C . . NT END=52558978;NT GT ./. 3 52558904 rs34005367 A T 591 nt VT=SNV;PN=G;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=A/0.6677,T/0.3323;PC=0.014;Gene=NT5DC2/NM_001134231.1/1;CC=c.1348-7T>A;VC=Intron;Gene=NT5DC2/NM_022908.2/0;CC=c.1237-7T>A;VC=Intron;DM=NT5DC2/5_nucleotid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G,T:170:106:0:0:1,1,168:32,10,5137:0.00,0.06,590.62:0.00,0.06,274.59:0.00,-0.00,316.02:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:73.0,67.0,39.9:0,0,0:0,0,0:118,17,60:32,134,88:0,0,39:NM_001134231.1(NT5DC2) c.1348-7T>A,NM_001134231.1(NT5DC2) c.1348-7T>A:0.41,0.41:0.364909,0.364909 3 52559120 . C . . NT END=52559224;NT GT ./. 3 52559167 rs547180715 CGGGG C 166 idl,nt VT=DEL;SST=Single;DP=85;DB;DBA=NA;PAF=CGGGG/0.01577,C/0.9842;NP=210;PC=0.003;Gene=NT5DC2/NM_001134231.1/1;CC=c.1207-52_1207-49delCCCC;VC=Intron;Gene=NT5DC2/NM_022908.2/0;CC=c.1096-52_1096-49delCCCC;VC=Intron;DM=NT5DC2/5_nucleotid;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGGGG,G,C:81:51:0:59:22,5,54:656,156,1724:0.00,11.27,165.91:0.00,-0.38,94.40:0.00,11.65,71.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.0,46.6,28.7:0,2,4:0,0,0:136,42,87:10,84,61:11,25,22:-,NM_001134231.1(NT5DC2) c.1207-52_1207-49delCCCC:-,NOT_FOUND:-,NOT_FOUND 3 52559312 . C . . NT END=52561309;NT GT ./. 3 52561392 . C . . NT END=52561632;NT GT ./. 3 52561735 . C . . NT END=52561844;NT GT ./. 3 52561779 rs11711421 C T 418 nt VT=SNV;PN=C;NN=G;SST=Single;DP=112;DB;DBA=NA;PAF=C/0.6142,T/0.3858;Gene=NT5DC2/NM_001134231.1/1;CC=c.936-45G>A;VC=Intron;Gene=NT5DC2/NM_022908.2/0;CC=c.825-45G>A;VC=Intron;DM=NT5DC2/5_nucleotid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:112:71:0:0:1,111:5,3655:0.02,417.87:0.02,199.48:0.00,218.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,43.1:0,0:0,0:47,104:104,45:0,27:NM_001134231.1(NT5DC2) c.936-45G>A,NM_001134231.1(NT5DC2) c.936-45G>A:0.45,0.45:0.411272,0.411272 3 52561948 . C . . NT END=52562028;NT GT ./. 3 52562090 . C . . NT END=52562198;NT GT ./. 3 52562328 . C . . NT END=52562461;NT GT ./. 3 52562556 . C . . NT END=52562652;NT GT ./. 3 52562709 . C . . NT END=52562876;NT GT ./. 3 52562952 . C . . NT END=52563165;NT GT ./. 3 52563351 . C . . NT END=52566178;NT GT ./. 3 52563572 rs4687624 C T 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6713,T/0.3287;Gene=NT5DC2/NM_001134231.1/1;CC=c.233-222G>A;VC=Intron;Gene=NT5DC2/NM_022908.2/0;CC=c.122-222G>A;VC=Intron;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:0:0:0:9:277:31.95:0.00:31.95:1.00:0.00:1.00:60:33.0:0:0:114:37:28:NM_001134231.1(NT5DC2) c.233-222G>A,NM_001134231.1(NT5DC2) c.233-222G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 52566065 rs4282054 T C 77 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.4529,C/0.5471;Gene=NT5DC2/NM_001134231.1/1;CC=c.232+1457A>G;VC=Intron;Gene=NT5DC2/NM_022908.2/0;CC=c.121+2484A>G;VC=Intron;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:20:0:0:20:679:77.43:77.43:0.00:1.00:1.00:0.00:60:42.6:0:0:63:87:28:NM_001134231.1(NT5DC2) c.232+1457A>G,NM_001134231.1(NT5DC2) c.232+1457A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 3 52566531 . G . . NT END=52567521;NT GT ./. 3 52566682 rs7636227 G A 50 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.4653,A/0.5347;Gene=NT5DC2/NM_001134231.1/1;CC=c.232+840C>T;VC=Intron;Gene=NT5DC2/NM_022908.2/0;CC=c.121+1867C>T;VC=Intron;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:0:0:0:13:438:50.00:0.00:50.00:1.00:0.00:1.00:60:47.2:0:0:121:29:14:NM_001134231.1(NT5DC2) c.232+840C>T,NM_001134231.1(NT5DC2) c.232+840C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 3 52567188 rs28661185 G T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6681,T/0.3319;PC=0.001;Gene=NT5DC2/NM_001134231.1/1;CC=c.232+334C>A;VC=Intron;Gene=NT5DC2/NM_022908.2/0;CC=c.121+1361C>A;VC=Intron;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:4:0:0:4:77:9.49:9.49:0.00:1.00:1.00:0.00:60:63.8:0:0:46:98:12:NM_001134231.1(NT5DC2) c.232+334C>A,NM_001134231.1(NT5DC2) c.232+334C>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 52567617 rs66782572 A G 1210 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=316;DB;DBA=NA;PAF=A/0.5321,G/0.4679;Gene=NT5DC2/NM_001134231.1/1;CC=c.137T>C;ProtCh=p.V46A;VC=Missense;Gene=NT5DC2/NM_022908.2/0;CC=c.121+932T>C;VC=Intron;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid;DM=NT5DC2/5_nucleotid GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:316:227:0:0:316:10596:1210.03:534.17:675.86:1.00:1.00:1.00:60:40.5:0:0:65:83:34:NM_001134231.1(NT5DC2) c.137T>C (p.Val46Ala),NM_001134231.1(NT5DC2) c.137T>C (p.Val46Ala):0.51,0.51:NOT_FOUND,NOT_FOUND 3 52567794 . a . . NT END=52568548;NT GT ./. 3 52568670 . T . . NT END=52570001;NT GT ./. 3 52568805 rs7639267 G T 212 nt VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.4549,T/0.5451;Gene=NT5DC2/NM_022908.2/0;CC=c.-136C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:164:T:58:9:0:0:58:1849:212.48:18.48:194.00:1.00:1.00:1.00:60:38.3:0:0:117:33:19:NM_001124767.1(SMIM4) c.-151-u1816G>T,NM_001124767.1(SMIM4) c.-151-u1816G>T:0.59,0.59:NOT_FOUND,NOT_FOUND 3 52570012 . G . . NT END=52570514;NT GT ./. 3 52570923 . G . . NT END=52574439;NT GT ./. 3 52574502 . G . . NT END=52582078;NT GT ./. 3 52582252 . C . . NT END=52584436;NT GT ./. 3 52584431 rs34372721 T TCTC 168 nt VT=INS;SST=Single;DP=49;DB;DBA=NA;PAF=T/0.5034,TCCT/.,TCTC/0.4966;NP=2511;PC=0.208;Gene=PBRM1/NM_018313.4/1;CC=c.4576+5_4576+6insGAG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:T,TCTC:49:47:46:0:3,46:70,1508:0.00,168.08:0.00,141.99:0.00,26.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.0,1.5:1,0:0,0:46,48:71,94:34,32:NM_018313.4(PBRM1) c.4576+5_4576+6insGAG,NM_018313.4(PBRM1) c.4576+5_4576+6insGAG:NOT_FOUND,NOT_FOUND:0.521645,0.521645 3 52584654 . C . . NT END=52584762;NT GT ./. 3 52584715 rs2878628 A G 299 nt VT=SNV;PN=G;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.6016,G/0.3984;Gene=PBRM1/NM_018313.4/1;CC=c.4359+48T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,G:83:45:0:0:1,82:10,2621:0.00,299.37:0.00,127.21:0.00,172.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.0,56.0:0,0:0,0:18,79:133,71:0,40:NM_018313.4(PBRM1) c.4359+48T>C,NM_018313.4(PBRM1) c.4359+48T>C:0.46,0.46:0.418192,0.418192 3 52584787 rs2251219 T C 236 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.6769,C/0.3231;PC=0.870;Gene=PBRM1/NM_018313.4/1;CC=c.4335A>G;ProtCh=p.P1445=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:32:0:0:71:2029:236.06:86.71:149.34:1.00:1.00:1.00:60:55.4:0:0:90:61:33:NM_018313.4(PBRM1) c.4335A>G (p.(=)),NM_018313.4(PBRM1) c.4335A>G (p.(=)):0.39,0.39:0.32931,0.32931 3 52584834 . C . . NT END=52588739;NT GT ./. 3 52588896 . C . . NT END=52592264;NT GT ./. 3 52592430 . C . . NT END=52595782;NT GT ./. 3 52595985 . C . . NT END=52597298;NT GT ./. 3 52596173 rs35217588 TA T 28 rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TA/0.5913,T/0.4087;DB;DBA=NA;PAF=TA/0.5913,T/0.4087;NP=115;PC=0.118;Gene=PBRM1/NM_018313.4/1;CC=c.3931-190delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:43:TA,T:11:0:0:10:2,9:60,296:0.00,28.26:0.00,0.00:0.00,28.26:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,18.8:0,1:0,0:144,85:6,66:1,28:-,NM_018313.4(PBRM1) c.3931-190delT:-,NOT_FOUND:-,NOT_FOUND 3 52597510 . C . . NT END=52598065;NT GT ./. 3 52597664 rs2289249 G A 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.6899,A/0.3101;PC=0.024;Gene=PBRM1/NM_018313.4/1;CC=c.3801-155C>T;VC=Intron;DM=PBRM1/BAH;DM=PBRM1/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:405:46.64:0.00:46.64:1.00:0.00:1.00:60:37.5:0:0:114:37:24:NM_018313.4(PBRM1) c.3801-155C>T,NM_018313.4(PBRM1) c.3801-155C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52598250 . C . . NT END=52610556;NT GT ./. 3 52610415 rs7652191 T C 38 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.5533,C/0.4467;Gene=PBRM1/NM_018313.4/1;CC=c.3616+142A>G;VC=Intron;DM=PBRM1/BAH;DM=PBRM1/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:10:0:0:10:328:37.57:37.57:0.00:1.00:1.00:0.00:60:43.8:0:0:81:69:37:NM_018313.4(PBRM1) c.3616+142A>G,NM_018313.4(PBRM1) c.3616+142A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52610651 rs17264436 T A 196 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.6839,A/0.3161;PC=0.390;Gene=PBRM1/NM_018313.4/1;CC=c.3522A>T;ProtCh=p.P1174=;VC=Silent;DM=PBRM1/BAH;DM=PBRM1/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A:51:30:0:0:51:1717:196.00:87.23:108.77:1.00:1.00:1.00:60:38.0:0:0:73:78:32:NM_018313.4(PBRM1) c.3522A>T (p.(=)),NM_018313.4(PBRM1) c.3522A>T (p.(=)):0.39,0.39:0.325081,0.325081 3 52610715 . C . . NT END=52613069;NT GT ./. 3 52613216 . C . . NT END=52620440;NT GT ./. 3 52620705 . C . . NT END=52621368;NT GT ./. 3 52621527 . C . . NT END=52623085;NT GT ./. 3 52621627 rs3733046 C T 52 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.5531,T/0.4469;Gene=PBRM1/NM_018313.4/1;CC=c.2966-176G>A;VC=Intron;DM=PBRM1/BAH;DM=PBRM1/BAH;DM=PBRM1/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:T:14:0:0:0:14:450:51.67:0.00:51.67:1.00:0.00:1.00:60:53.7:0:0:73:77:29:NM_018313.4(PBRM1) c.2966-176G>A,NM_018313.4(PBRM1) c.2966-176G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52623272 . C . . NT END=52637536;NT GT ./. 3 52637486 rs2276824 C G 191 nt VT=SNV;PN=A;NN=C;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.4293,G/0.5707;Gene=PBRM1/NM_018313.4/1;CC=c.2779+51G>C;VC=Intron;DM=PBRM1/BAH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:137:G:49:41:0:0:49:1678:191.15:126.87:64.28:1.00:1.00:1.00:60:41.2:0:0:49:91:31:NM_018313.4(PBRM1) c.2779+51G>C,NM_018313.4(PBRM1) c.2779+51G>C:0.63,0.63:0.624787,0.624787 3 52637749 . C . . NT END=52643328;NT GT ./. 3 52643307 rs3733045 A G 139 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.5521,G/0.4479;PC=0.001;Gene=PBRM1/NM_018313.4/1;CC=c.2567+22T>C;VC=Intron;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A,G:41:38:0:0:2,39:40,1241:0.00,139.43:0.00,109.50:0.00,29.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:105.5,42.6:0,0:0,0:88,53:53,98:44,34:NM_018313.4(PBRM1) c.2567+22T>C,NM_018313.4(PBRM1) c.2567+22T>C:0.49,0.49:0.459929,0.459929 3 52643685 rs3755806 T C 250 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=72;DB;DBA=NA;PAF=T/0.6775,C/0.3225;PC=0.016;Gene=PBRM1/NM_018313.4/1;CC=c.2211A>G;ProtCh=p.T737=;VC=Silent;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:44:0:0:72:2158:249.74:133.97:115.77:1.00:1.00:1.00:60:36.9:0:0:76:74:35:NM_018313.4(PBRM1) c.2211A>G (p.(=)),NM_018313.4(PBRM1) c.2211A>G (p.(=)):0.39,0.39:0.329617,0.329617 3 52643972 . C . . NT END=52649366;NT GT ./. 3 52649473 . C . . NT END=52651277;NT GT ./. 3 52651555 . C . . NT END=52658912;NT GT ./. 3 52658958 . C . . NT END=52661288;NT GT ./. 3 52659124 rs34215106 T C 39 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6777,C/0.3223;PC=0.017;Gene=PBRM1/NM_018313.4/1;CC=c.1541+2165A>G;VC=Intron;DM=PBRM1/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:336:39.24:0.00:39.24:1.00:0.00:1.00:60:53.5:0:0:103:48:26:NM_018313.4(PBRM1) c.1541+2165A>G,NM_018313.4(PBRM1) c.1541+2165A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52661387 . C . . NT END=52662909;NT GT ./. 3 52663052 . C . . NT END=52668617;NT GT ./. 3 52668832 . C . . NT END=52675969;NT GT ./. 3 52676062 . C . . NT END=52677263;NT GT ./. 3 52676064 rs371540287 AC A 13 idl,nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=AC/0.9872,A/0.01278;NP=172;PC=0.880;Gene=PBRM1/NM_018313.4/1;CC=c.996-4delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:AC,I,A:27:17:4:6:18,4,5:498,124,154:0.00,9.75,12.53:0.00,7.02,7.09:0.00,2.73,5.45:0.00,0.00,0.82:0.00,0.00,0.93:0.00,0.00,0.96:60,60,60:57.1,33.5,10.4:0,0,0:0,0,0:80,64,80:69,54,71:29,0,33:-,NM_018313.4(PBRM1) c.996-4delG:-,NOT_FOUND:-,NOT_FOUND 3 52676065 rs549395630 C A,T 45 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6899,T/0.3059;DB;DBA=NA;PAF=C/0.6899,CA/0.004193;PC=0.880 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:106:A,T:20:12:0:7:4,16:134,389:12.51,44.67:7.80,18.20:4.72,26.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.5,60.3:4,0:0,0:66,68:52,68:0,33:NM_018313.4(PBRM1) c.996-4G>T,NM_018313.4(PBRM1) c.996-4G>A:NOT_FOUND,0.39:NOT_FOUND,0.32485 3 52676066 rs576272601 A T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.9872,T/0.01278;NP=247;PC=1.000;Gene=PBRM1/NM_018313.4/1;CC=c.996-5T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,T:27:16:0:0:22,5:665,155:0.00,12.28:0.00,6.91:0.00,5.37:0.00,0.82:0.00,0.92:0.00,0.96:60,60:54.7,10.4:5,0:0,0:67,81:69,70:18,33:-,NM_018313.4(PBRM1) c.996-5T>A:-,NOT_FOUND:-,NOT_FOUND 3 52676190 rs11130313 A C 21 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6809,C/0.3191;Gene=PBRM1/NM_018313.4/1;CC=c.996-129T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:178:20.66:0.00:20.66:1.00:0.00:1.00:60:35.3:0:0:102:48:22:NM_018313.4(PBRM1) c.996-129T>G,NM_018313.4(PBRM1) c.996-129T>G:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52677360 . C . . NT END=52678719;NT GT ./. 3 52678806 . C . . NT END=52682359;NT GT ./. 3 52682205 rs34757451 G A 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.6811,A/0.3189;PC=0.022;Gene=PBRM1/NM_018313.4/1;CC=c.813+155C>T;VC=Intron;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:38.3:0:0:28:123:18:NM_018313.4(PBRM1) c.813+155C>T,NM_018313.4(PBRM1) c.813+155C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52682459 . C . . NT END=52685757;NT GT ./. 3 52685827 . C . . NT END=52692214;NT GT ./. 3 52686087 rs4234636 A C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.01218,C/0.9878;NP=523;Gene=PBRM1/NM_018313.4/1;CC=c.646-261T>G;VC=Intron;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:133:15.21:3.78:11.43:1.00:1.00:1.00:60:56.0:0:0:68:83:36:NM_018313.4(PBRM1) c.646-261T>G,NM_018313.4(PBRM1) c.646-261T>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 52692124 rs2336149 G A 45 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5555,A/0.4445;PC=0.012;Gene=PBRM1/NM_018313.4/1;CC=c.645+91C>T;VC=Intron;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:12:0:0:12:394:45.12:45.12:0.00:1.00:1.00:0.00:60:41.8:0:0:63:88:32:NM_018313.4(PBRM1) c.645+91C>T,NM_018313.4(PBRM1) c.645+91C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52692332 . C . . NT END=52696148;NT GT ./. 3 52692359 rs2590846 C G 93 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6809,G/0.3191,T/.;PC=0.066;Gene=PBRM1/NM_018313.4/1;CC=c.529-28G>C;VC=Intron;DM=PBRM1/Bromodomain GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:8:0:0:25:807:92.58:22.71:69.87:1.00:1.00:1.00:60:35.3:0:0:101:48:18:NM_018313.4(PBRM1) c.529-28G>C,NM_018313.4(PBRM1) c.529-28G>C:0.39,0.39:0.329745,0.329745 3 52696293 . C . . NT END=52702513;NT GT ./. 3 52696310 rs370360003 G GA 16 idl,rn VT=INS;SST=Single;DP=72;DB;DBA=NA;PAF=NA;NP=4;Gene=PBRM1/NM_018313.4/1;CC=c.385-19dupT;VC=Intron;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain;DM=PBRM1/Bromodomain;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:A,G,GA,D:72:30:7:4:2,59,7,4:16,1862,226,118:-0.42,0.00,16.24,7.26:-0.20,0.00,6.25,4.50:-0.23,0.00,9.99,2.77:0.00,0.00,0.88,0.00:0.00,0.00,0.88,0.00:0.00,0.00,0.99,0.00:60,60,60,60:58.0,15.8,13.9,31.0:0,0,0,0:0,0,0,0:113,97,73,108:36,51,77,40:13,23,27,17:-,NM_018313.4(PBRM1) c.385-19_385-18insT:-,NOT_FOUND:-,NOT_FOUND 3 52702662 . C . . NT END=52712515;NT GT ./. 3 52712614 . C . . NT END=52713589;NT GT ./. 3 52713743 . C . . NT END=52715719;NT GT ./. 3 52713876 . G GT 11 rn VT=INS;SST=Single;DP=17;Gene=PBRM1/NM_018313.4/1;CC=c.-12-138dupA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:G,GT,D:17:0:4:3:10,4,3:288,129,96:0.00,11.14,7.93:0.00,0.00,0.00:0.00,11.14,7.93:0.00,0.74,0.00:0.00,0.00,0.00:0.00,0.74,0.00:60,60,60:31.6,2.2,3.7:0,0,0:0,0,0:102,97,100:48,53,51:35,27,24:-,NM_018313.4(PBRM1) c.-12-138_-12-137insA:-,NOT_FOUND:-,NOT_FOUND 3 52715759 . T . . NT END=52720108;NT GT ./. 3 52720080 rs11554256 A C 136 nt VT=SNV;PN=G;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=A/0.5096,C/0.4904;DB;DBA=NA;PAF=NA;Gene=GNL3/NM_014366.4/1;CC=c.-29A>C;VC=5UTR;Gene=GNL3/NM_206825.1/0;CC=c.-162A>C;VC=5UTR;Gene=GNL3/NM_206826.1/0;CC=c.-24+9A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:33:0:0:36:1190:136.09:91.54:44.55:1.00:1.00:1.00:60:42.9:0:0:57:92:37:NM_014366.4(GNL3) c.-29A>C,NM_014366.4(GNL3) c.-29A>C:0.55,0.55:0.520913,0.520913 3 52720219 . G . . NT END=52720784;NT GT ./. 3 52720844 . G . . NT END=52721261;NT GT ./. 3 52721305 rs11177 G A 294 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.6881,A/0.3119;PC=1.000;Gene=GNL3/NM_014366.4/1;CC=c.116G>A;ProtCh=p.R39Q;VC=Missense;Gene=GNL3/NM_206825.1/0;CC=c.80G>A;ProtCh=p.R27Q;VC=Missense;Gene=GNL3/NM_206826.1/0;CC=c.80G>A;ProtCh=p.R27Q;VC=Missense;DM=GNL3/GN3L_Grn1;DM=GNL3/GN3L_Grn1;DM=GNL3/GN3L_Grn1;DM=GNL3/GN3L_Grn1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:61:0:0:76:2577:293.91:195.59:98.32:1.00:1.00:1.00:60:39.1:0:0:63:87:33:NM_014366.4(GNL3) c.116G>A (p.Arg39Gln),NM_014366.4(GNL3) c.116G>A (p.Arg39Gln):0.39,0.39:0.324927,0.324927 3 52721400 . G . . NT END=52721517;NT GT ./. 3 52721632 . G . . NT END=52722124;NT GT ./. 3 52722209 . G . . NT END=52723089;NT GT ./. 3 52722266 rs397841157 AT A 37 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=AT/0.5062,A/0.4938;DB;DBA=NA;PAF=AT/0.5062,A/0.4938;NP=1940;Gene=GNL3/NM_014366.4/1;CC=c.408+68delT;VC=Intron;Gene=GNL3/NM_206825.1/0;CC=c.372+68delT;VC=Intron;Gene=GNL3/NM_206826.1/0;CC=c.372+68delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:AT,A:15:5:0:11:4,11:127,358:0.00,37.27:0.00,6.11:0.00,31.16:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,11.7:0,0:0,0:144,115:5,36:1,20:-,NM_014366.4(GNL3) c.408+59delT:-,NOT_FOUND:-,0.537945 3 52722335 rs3774349 A C 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.511,C/0.489;Gene=GNL3/NM_014366.4/1;CC=c.408+127A>C;VC=Intron;Gene=GNL3/NM_206825.1/0;CC=c.372+127A>C;VC=Intron;Gene=GNL3/NM_206826.1/0;CC=c.372+127A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:0:0:0:11:302:35.35:0.00:35.35:1.00:0.00:1.00:60:30.6:0:0:98:53:49:NM_014366.4(GNL3) c.408+127A>C,NM_014366.4(GNL3) c.408+127A>C:0.55,0.55:NOT_FOUND,NOT_FOUND 3 52723223 . G . . NT END=52724607;NT GT ./. 3 52724721 . G . . NT END=52724960;NT GT ./. 3 52725088 . G . . NT END=52725557;NT GT ./. 3 52725646 . G . . NT END=52726887;NT GT ./. 3 52725718 rs34449110 ATT A 15 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=ATT/0.531,A/0.469;NP=3;Gene=GNL3/NM_014366.4/1;CC=c.869+92_869+93delTT;VC=Intron;Gene=GNL3/NM_206825.1/0;CC=c.833+92_833+93delTT;VC=Intron;Gene=GNL3/NM_206826.1/0;CC=c.833+92_833+93delTT;VC=Intron;DM=GNL3/MMR_HSR1;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:ATT,A:8:1:0:9:3,5:86,266:0.00,15.08:0.00,-0.12:0.00,15.20:0.00,0.92:0.00,0.61:0.00,0.92:60,60:15.3,62.0:0,4:0,0:149,112:2,39:0,9:-,NM_014366.4(GNL3) c.869+74_869+75delTT:-,NOT_FOUND:-,NOT_FOUND 3 52725771 rs35315313 G T 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5545,T/0.4455;PC=0.002;Gene=GNL3/NM_014366.4/1;CC=c.869+126G>T;VC=Intron;Gene=GNL3/NM_206825.1/0;CC=c.833+126G>T;VC=Intron;Gene=GNL3/NM_206826.1/0;CC=c.833+126G>T;VC=Intron;DM=GNL3/MMR_HSR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:150:17.38:0.00:17.38:1.00:0.00:1.00:60:40.4:0:0:56:95:10:NM_014366.4(GNL3) c.869+126G>T,NM_014366.4(GNL3) c.869+126G>T:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52726695 rs6762813 C T 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6885,T/0.3115;Gene=GNL3/NM_014366.4/1;CC=c.870-193C>T;VC=Intron;Gene=GNL3/NM_206825.1/0;CC=c.834-193C>T;VC=Intron;Gene=GNL3/NM_206826.1/0;CC=c.834-193C>T;VC=Intron;DM=GNL3/MMR_HSR1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:T:18:18:0:0:18:515:60.05:60.05:0.00:1.00:1.00:0.00:60:32.1:0:0:61:89:28:NM_014366.4(GNL3) c.870-193C>T,NM_014366.4(GNL3) c.870-193C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52727063 . G . . NT END=52727202;NT GT ./. 3 52727257 rs2289247 G A 350 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.5549,A/0.4451;PC=0.002;Gene=GNL3/NM_014366.4/1;CC=c.1099G>A;ProtCh=p.V367M;VC=Missense;Gene=GNL3/NM_206825.1/0;CC=c.1063G>A;ProtCh=p.V355M;VC=Missense;Gene=GNL3/NM_206826.1/0;CC=c.1063G>A;ProtCh=p.V355M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,T:100:74:0:0:98,1,1:3041,12,10:349.66,0.16,0.10:189.90,0.16,0.00:159.76,0.00,0.10:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:38.8,250.0,105.0:0,0,0:0,0,0:73,80,129:76,71,22:37,0,0:NM_014366.4(GNL3) c.1099G>A (p.Val367Met),NM_014366.4(GNL3) c.1099G>A (p.Val367Met):0.49,0.49:0.460249,0.460249 3 52727346 . G . . NT END=52727423;NT GT ./. 3 52727561 . G . . NT END=52727647;NT GT ./. 3 52727824 . G . . NT END=52728052;NT GT ./. 3 52728120 . G . . NT END=52728208;NT GT ./. 3 52728292 . C . . NT END=52728860;NT GT ./. 3 52728312 rs397759277 A AT 127 idl,rn VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.6224,AT/0.3776,ATT/.;DB;DBA=NA;PAF=A/0.6224,AT/0.3776;NP=2;NP=2057;Gene=GNL3/NM_014366.4/1;CC=c.*31dupT;VC=3UTR;Gene=GNL3/NM_206825.1/0;CC=c.*31dupT;VC=3UTR;Gene=GNL3/NM_206826.1/0;CC=c.*31dupT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,AT,D:46:15:42:1:7,38,1:200,1301,34:0.00,126.86,2.12:0.00,20.37,-0.02:0.00,106.49,2.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,40:23.9,6.1,0.0:1,4,0:0,0,0:124,108,63:19,42,87:16,16,0:-,NM_014366.4(GNL3) c.*31dupT:-,NOT_FOUND:-,0.387791 3 52728804 rs6976 C T 95 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6953,T/0.3047;PC=0.001;Gene=GLT8D1/NM_152932.2/0;CC=c.*57G>A;VC=3UTR;Gene=GLT8D1/NM_001010983.2/0;CC=c.*57G>A;VC=3UTR;Gene=GLT8D1/NM_001278280.1/1;CC=c.*57G>A;VC=3UTR;Gene=GLT8D1/NM_001278281.1/0;CC=c.*57G>A;VC=3UTR;Gene=GLT8D1/NM_018446.3/0;CC=c.*57G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:24:0:0:25:835:95.42:85.53:9.89:1.00:1.00:1.00:60:33.8:0:0:45:106:24:NM_001010983.1(GLT8D1) c.*57G>A,NM_001010983.1(GLT8D1) c.*57G>A:0.38,0.38:NOT_FOUND,NOT_FOUND 3 52729052 . C . . NT END=52729205;NT GT ./. 3 52729319 . C . . NT END=52729436;NT GT ./. 3 52729604 . C . . NT END=52729943;NT GT ./. 3 52730057 . C . . NT END=52730249;NT GT ./. 3 52730335 . C . . NT END=52730557;NT GT ./. 3 52730676 . C . . NT END=52731736;NT GT ./. 3 52731483 rs11130317 C T 17 nt VT=SNV;PN=A;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6801,T/0.3199;Gene=GLT8D1/NM_152932.2/0;CC=c.329+254G>A;VC=Intron;Gene=GLT8D1/NM_001010983.2/0;CC=c.329+254G>A;VC=Intron;Gene=GLT8D1/NM_001278280.1/1;CC=c.329+254G>A;VC=Intron;Gene=GLT8D1/NM_001278281.1/0;CC=c.329+254G>A;VC=Intron;Gene=GLT8D1/NM_018446.3/0;CC=c.329+254G>A;VC=Intron;DM=GLT8D1/Glyco_transf_8;DM=GLT8D1/Glyco_transf_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:151:17.48:17.48:0.00:1.00:1.00:0.00:60:44.2:0:0:48:103:10:NM_001010983.1(GLT8D1) c.329+254G>A,NM_001010983.1(GLT8D1) c.329+254G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52731598 rs3733041 T C 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5545,C/0.4455;PC=0.004;Gene=GLT8D1/NM_152932.2/0;CC=c.329+139A>G;VC=Intron;Gene=GLT8D1/NM_001010983.2/0;CC=c.329+139A>G;VC=Intron;Gene=GLT8D1/NM_001278280.1/1;CC=c.329+139A>G;VC=Intron;Gene=GLT8D1/NM_001278281.1/0;CC=c.329+139A>G;VC=Intron;Gene=GLT8D1/NM_018446.3/0;CC=c.329+139A>G;VC=Intron;DM=GLT8D1/Glyco_transf_8;DM=GLT8D1/Glyco_transf_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:443:50.50:50.50:0.00:1.00:1.00:0.00:60:47.8:0:0:38:110:20:NM_001010983.1(GLT8D1) c.329+139A>G,NM_001010983.1(GLT8D1) c.329+139A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52731951 . C . . NT END=52734277;NT GT ./. 3 52734377 . C . . NT END=52734460;NT GT ./. 3 52734477 . C . . NT END=52739854;NT GT ./. 3 52734580 . CT C 10 idl,rn VT=DEL;SST=Single;DP=21;NP=11;PC=0.725;Gene=GLT8D1/NM_152932.2/0;CC=c.-36-69delA;VC=Intron;Gene=GLT8D1/NM_001010983.2/0;CC=c.-36-69delA;VC=Intron;Gene=GLT8D1/NM_001278280.1/1;CC=c.-36-69delA;VC=Intron;Gene=GLT8D1/NM_001278281.1/0;CC=c.-36-69delA;VC=Intron;Gene=GLT8D1/NM_018446.3/0;CC=c.-36-69delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:CT,I,C:19:4:1:6:14,1,4:417,34,183:0.00,2.26,9.55:0.00,2.51,-0.23:0.00,-0.24,9.78:0.00,0.00,0.70:0.00,0.00,0.58:0.00,0.00,0.95:60,60,60:14.6,0.0,46.0:0,0,2:0,0,0:135,123,105:15,27,43:13,0,20:-,NM_001010983.1(GLT8D1) c.-36-69delA:-,NOT_FOUND:-,NOT_FOUND 3 52739520 rs8906 T C 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6953,C/0.3047;Gene=GLT8D1/NM_001010983.2/0;CC=c.-323A>G;VC=5UTR;Gene=GLT8D1/NM_001278280.1/1;CC=c.-319A>G;VC=5UTR;Gene=GLT8D1/NM_001278281.1/0;CC=c.-266+199A>G;VC=Intron;Gene=GLT8D1/NM_018446.3/0;CC=c.-94A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:235:26.84:26.84:0.00:1.00:1.00:0.00:60:44.3:0:0:36:113:13:NM_001010983.1(GLT8D1) c.-323A>G,NM_001010983.1(GLT8D1) c.-323A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52740182 rs6617 C G 615 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=170;DB;DBA=NA;PAF=C/0.5547,G/0.4453;Gene=SPCS1/NM_014041.3/1;CC=c.121C>G;ProtCh=p.P41A;VC=Missense;DM=SPCS1/SPC12;DM=SPCS1/SPC12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:170:98:0:0:1,1,168:10,33,5384:0.06,0.00,615.14:0.06,0.00,252.77:-0.00,0.00,362.38:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:166.0,0.0,42.4:0,0,0:0,0,0:118,103,83:33,44,66:0,0,38:NM_014041.3(SPCS1) c.121C>G (p.Pro41Ala),NM_014041.3(SPCS1) c.121C>G (p.Pro41Ala):0.49,0.49:NOT_FOUND,NOT_FOUND 3 52740299 . G . . NT END=52740659;NT GT ./. 3 52740720 . G . . NT END=52740808;NT GT ./. 3 52740896 . G . . NT END=52741702;NT GT ./. 3 52741581 rs555126424 AT A 74 rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1157;PC=0.008;Gene=SPCS1/NM_014041.3/1;CC=c.385-111delT;VC=Intron;DM=SPCS1/SPC12;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:AT,A:26:26:0:23:3,23:95,674:0.00,74.31:0.00,68.82:0.00,5.49:0.00,1.00:0.00,1.00:0.00,1.00:60,70:17.0,29.0:0,0:0,0:51,48:100,103:49,35:-,NM_014041.3(SPCS1) c.385-121delT:-,NOT_FOUND:-,NOT_FOUND 3 52741829 . G . . NT END=52745792;NT GT ./. 3 52745886 . C . . NT END=52771513;NT GT ./. 3 52771468 rs6445535 T C 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.5423,C/0.4577;Gene=NEK4/NM_001193533.1/0;CC=c.2166+134A>G;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.2433+134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:21:0:0:21:693:79.31:79.31:0.00:1.00:1.00:0.00:60:43.5:0:0:44:106:34:NM_003157.4(NEK4) c.2433+134A>G,NM_003157.4(NEK4) c.2433+134A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52771736 . C . . NT END=52773444;NT GT ./. 3 52771920 rs11130326 C G 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.013;Gene=NEK4/NM_001193533.1/0;CC=c.2033-185G>C;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.2300-185G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:328:37.52:0.00:37.52:1.00:0.00:1.00:60:39.0:0:0:112:38:27:NM_003157.4(NEK4) c.2300-185G>C,NM_003157.4(NEK4) c.2300-185G>C:0.44,0.44:NOT_FOUND,NOT_FOUND 3 52773651 . C . . NT END=52775426;NT GT ./. 3 52775516 . C . . NT END=52777367;NT GT ./. 3 52777478 . C . . NT END=52778254;NT GT ./. 3 52778051 rs2286800 C T 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6879,T/0.3121;Gene=NEK4/NM_001193533.1/0;CC=c.1627+204G>A;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.1894+204G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:228:26.14:26.14:0.00:1.00:1.00:0.00:60:38.1:0:0:35:103:23:NM_003157.4(NEK4) c.1894+204G>A,NM_003157.4(NEK4) c.1894+204G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52778322 . C . . NT END=52780076;NT GT ./. 3 52778347 rs2268026 T C 171 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.6675,C/0.3325;PC=0.891;Gene=NEK4/NM_001193533.1/0;CC=c.1561-26A>G;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.1828-26A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:30:0:0:46:1488:170.59:71.54:99.05:1.00:1.00:1.00:60:35.9:0:0:92:56:25:NM_003157.4(NEK4) c.1828-26A>G,NM_003157.4(NEK4) c.1828-26A>G:0.39,0.39:0.329694,0.329694 3 52779801 rs13074853 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.5427,C/0.4573;PC=0.014;Gene=NEK4/NM_001193533.1/0;CC=c.1560+276A>G;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.1827+276A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:217:25.03:25.03:0.00:1.00:1.00:0.00:60:41.0:0:0:73:77:42:NM_003157.4(NEK4) c.1827+276A>G,NM_003157.4(NEK4) c.1827+276A>G:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52780227 . C . . NT END=52780749;NT GT ./. 3 52780509 rs2072390 A T 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.5431,T/0.4569;Gene=NEK4/NM_001193533.1/0;CC=c.1410+241T>A;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.1677+241T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:7:0:0:11:332:38.41:23.10:15.31:1.00:1.00:1.00:60:34.5:0:0:48:102:22:NM_003157.4(NEK4) c.1677+241T>A,NM_003157.4(NEK4) c.1677+241T>A:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52780921 . C . . NT END=52785947;NT GT ./. 3 52786353 . C . . NT END=52794810;NT GT ./. 3 52794953 . C . . NT END=52797485;NT GT ./. 3 52797634 rs1029871 G C 225 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.6937,C/0.3063;PC=1.000;Gene=NEK4/NM_001193533.1/0;CC=c.406C>G;ProtCh=p.P136A;VC=Missense;Gene=NEK4/NM_003157.4/1;CC=c.673C>G;ProtCh=p.P225A;VC=Missense;DM=NEK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C:61:22:0:0:61:1956:224.55:52.07:172.48:1.00:1.00:1.00:60:37.7:0:0:90:47:41:NM_003157.4(NEK4) c.673C>G (p.Pro225Ala),NM_003157.4(NEK4) c.673C>G (p.Pro225Ala):0.39,0.39:0.318084,0.318084 3 52797641 . C . . NT END=52799902;NT GT ./. 3 52798794 rs56827006 G GCACA 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=15;Gene=NEK4/NM_001193533.1/0;CC=c.399+1108_399+1109insTGTG;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.666+1108_666+1109insTGTG;VC=Intron;DM=NEK4/Pkinase;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:G,GCACA:3:3:3:0:1,2:10,101:0.00,6.77:0.00,3.24:0.00,3.53:0.00,0.51:0.00,0.89:0.00,0.89:60,60:10.0,0.0:0,1:0,0:84,54:29,54:0,10:-,NM_003157.4(NEK4) c.666+1108_666+1109insTGTG:-,NOT_FOUND:-,NOT_FOUND 3 52800011 . C . . NT END=52800193;NT GT ./. 3 52800284 rs2230535 T C 219 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.6677,C/0.3323;PC=0.961;Gene=NEK4/NM_001193533.1/0;CC=c.201A>G;ProtCh=p.L67=;VC=Silent;Gene=NEK4/NM_003157.4/1;CC=c.468A>G;ProtCh=p.L156=;VC=Silent;DM=NEK4/Pkinase;DM=NEK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C:59:35:0:0:59:1911:219.15:91.83:127.32:1.00:1.00:1.00:60:37.0:0:0:68:81:39:NM_003157.4(NEK4) c.468A>G (p.(=)),NM_003157.4(NEK4) c.468A>G (p.(=)):0.39,0.39:0.330463,0.330463 3 52800392 . C . . NT END=52802353;NT GT ./. 3 52802402 rs2230534 A C 316 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.6685,C/0.3315;PC=0.236;Gene=NEK4/NM_001193533.1/0;CC=c.94-2011T>G;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.312T>G;ProtCh=p.P104=;VC=Silent;DM=NEK4/Pkinase;DM=NEK4/Pkinase;DM=NEK4/GVQW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:89:68:0:0:88,1:2748,5:316.19,0.03:194.88,0.03:121.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,53.0:0,0:0,0:81,39:68,110:31,0:NM_003157.4(NEK4) c.312T>G (p.(=)),NM_003157.4(NEK4) c.312T>G (p.(=)):0.39,0.39:0.330617,0.330617 3 52802621 . C . . NT END=52804669;NT GT ./. 3 52804487 rs13071584 T C 32 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5691,C/0.4309;Gene=NEK4/NM_001193533.1/0;CC=c.93+183A>G;VC=Intron;Gene=NEK4/NM_003157.4/1;CC=c.93+183A>G;VC=Intron;DM=NEK4/Pkinase;DM=NEK4/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:277:31.52:31.52:0.00:1.00:1.00:0.00:60:38.6:0:0:35:115:23:NM_003157.4(NEK4) c.93+183A>G,NM_003157.4(NEK4) c.93+183A>G:0.47,0.47:NOT_FOUND,NOT_FOUND 3 52804763 . G . . NT END=52811631;NT GT ./. 3 52811749 . G . . NT END=52812012;NT GT ./. 3 52812034 . G . . NT END=52812355;NT GT ./. 3 52812683 . G . . NT END=52812957;NT GT ./. 3 52813063 . G . . NT END=52813447;NT GT ./. 3 52813611 . G . . NT END=52813936;NT GT ./. 3 52814015 . a . . NT END=52814284;NT GT ./. 3 52814256 rs2302417 T A 187 nt VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.6114,A/0.3886;PC=0.006;Gene=ITIH1/NM_002215.3/1;CC=c.574-29T>A;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.148-29T>A;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.-291-29T>A;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.-291-29T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:142:A:51:40:0:0:51:1632:187.44:116.77:70.67:1.00:1.00:1.00:60:39.0:0:0:61:90:27:NM_002215.3(ITIH1) c.574-29T>A,NM_002215.3(ITIH1) c.574-29T>A:0.45,0.45:0.354353,0.354353 3 52814399 . G . . NT END=52815955;NT GT ./. 3 52815905 rs2710323 T C 198 nt VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.4782,C/0.5218;Gene=ITIH1/NM_002215.3/1;CC=c.688-51T>C;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.262-51T>C;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.-177-51T>C;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.-177-51T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:C:53:49:0:0:53:1732:198.47:159.35:39.12:1.00:1.00:1.00:60:42.9:0:0:38:94:29:NM_002215.3(ITIH1) c.688-51T>C,NM_002215.3(ITIH1) c.688-51T>C:0.56,0.56:0.545133,0.545133 3 52816082 . G . . NT END=52816166;NT GT ./. 3 52816284 . G . . NT END=52816972;NT GT ./. 3 52816585 rs183955486 C CAAGTGCCGGGAGT 18 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5771,CAAGTGCCGGGAGT/0.4229;DB;DBA=NA;PAF=NA;NP=1;Gene=ITIH1/NM_002215.3/1;CC=c.930+304_930+305insGTGCCGGGAGTAA;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.504+304_504+305insGTGCCGGGAGTAA;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.66+304_66+305insGTGCCGGGAGTAA;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.66+304_66+305insGTGCCGGGAGTAA;VC=Intron;DM=ITIH1/VWA;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CAAGTGCCGGGAGT:5:0:5:0:5:152:17.58:0.00:17.58:1.00:0.00:1.00:60:11.4:0:0:77:73:23:NM_002215.3(ITIH1) c.930+302_930+303insAAGTGCCGGGAGT,NM_002215.3(ITIH1) c.930+302_930+303insAAGTGCCGGGAGT:0.45,0.45:NOT_FOUND,NOT_FOUND 3 52817142 . G . . NT END=52817229;NT GT ./. 3 52817356 . G . . NT END=52818311;NT GT ./. 3 52818494 . G . . NT END=52819059;NT GT ./. 3 52818579 rs2239551 G A 131 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.6961,A/0.3039;PC=0.006;Gene=ITIH1/NM_002215.3/1;CC=c.1407+86G>A;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.981+86G>A;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.543+86G>A;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.543+86G>A;VC=Intron;DM=ITIH1/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:3:0:0:37:1135:131.08:6.55:124.53:1.00:1.00:1.00:60:41.7:0:0:101:50:41:NM_002215.3(ITIH1) c.1407+86G>A,NM_002215.3(ITIH1) c.1407+86G>A:0.37,0.37:NOT_FOUND,NOT_FOUND 3 52818892 rs71087021 G GA 21 idl,rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;PC=0.169;Gene=ITIH1/NM_002215.3/1;CC=c.1408-153_1408-152insA;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.982-153_982-152insA;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.544-153_544-152insA;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.544-153_544-152insA;VC=Intron;DM=ITIH1/VWA;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:G,GA:8:9:8:0:2,6:72,257:0.00,20.53:0.00,20.53:0.00,0.00:0.00,0.99:0.00,1.00:0.00,0.73:60,60:0.0,35.2:0,2:0,0:109,85:41,64:19,23:-,NM_002215.3(ITIH1) c.1408-168_1408-167insA:-,NOT_FOUND:-,NOT_FOUND 3 52819246 . G . . NT END=52820310;NT GT ./. 3 52819327 rs2268023 T A 114 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.6166,A/0.3834;Gene=ITIH1/NM_002215.3/1;CC=c.1593+82T>A;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1167+82T>A;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.729+82T>A;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.729+82T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:A:36:5:0:0:36:973:114.13:10.43:103.70:1.00:1.00:1.00:60:41.8:0:0:108:40:28:NM_002215.3(ITIH1) c.1593+82T>A,NM_002215.3(ITIH1) c.1593+82T>A:0.44,0.44:NOT_FOUND,NOT_FOUND 3 52820451 . G . . NT END=52820960;NT GT ./. 3 52820855 rs542830899 CGAAT C 129 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=CGAAT/0.5333,C/0.4287;DB;DBA=NA;PAF=CGAAT/0.5333,C/0.4287;NP=969;Gene=ITIH1/NM_002215.3/1;CC=c.1734-77_1734-74delGAAT;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1308-77_1308-74delGAAT;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.870-77_870-74delGAAT;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.870-77_870-74delGAAT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:CGAAT,C:43:41:0:41:4,39:138,1231:0.00,129.22:0.00,114.82:0.00,14.40:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,24.6:0,2:0,0:131,33:20,118:8,19:-,NM_002215.3(ITIH1) c.1734-105_1734-102delGAAT:-,NOT_FOUND:-,NOT_FOUND 3 52820981 rs678 A T 409 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=A/0.7131,T/0.2869;PC=1.000;Gene=ITIH1/NM_002215.3/1;CC=c.1754A>T;ProtCh=p.E585V;VC=Missense;Gene=ITIH1/NM_001166434.2/0;CC=c.1328A>T;ProtCh=p.E443V;VC=Missense;Gene=ITIH1/NM_001166435.2/0;CC=c.890A>T;ProtCh=p.E297V;VC=Missense;Gene=ITIH1/NM_001166436.2/0;CC=c.890A>T;ProtCh=p.E297V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:114:93:0:0:114:3550:409.16:251.38:157.78:1.00:1.00:1.00:60:61.7:0:0:67:80:34:NM_002215.3(ITIH1) c.1754A>T (p.Glu585Val),NM_002215.3(ITIH1) c.1754A>T (p.Glu585Val):0.36,0.36:0.3004,0.3004 3 52821011 rs1042779 A G 477 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=134;DB;DBA=NA;PAF=A/0.5753,G/0.4247;PC=1.000;Gene=ITIH1/NM_002215.3/1;CC=c.1784A>G;ProtCh=p.Q595R;VC=Missense;Gene=ITIH1/NM_001166434.2/0;CC=c.1358A>G;ProtCh=p.Q453R;VC=Missense;Gene=ITIH1/NM_001166435.2/0;CC=c.920A>G;ProtCh=p.Q307R;VC=Missense;Gene=ITIH1/NM_001166436.2/0;CC=c.920A>G;ProtCh=p.Q307R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:134:98:0:0:134:4132:476.94:269.36:207.57:1.00:1.00:1.00:60:57.7:0:0:63:87:41:NM_002215.3(ITIH1) c.1784A>G (p.Gln595Arg),NM_002215.3(ITIH1) c.1784A>G (p.Gln595Arg):0.46,0.46:0.419576,0.419576 3 52821116 . G . . NT END=52821203;NT GT ./. 3 52821177 rs2286798 A C 369 nt VT=SNV;PN=A;NN=T;SST=Single;DP=98;DB;DBA=NA;PAF=A/0.6438,C/0.3562;PC=0.948;Gene=ITIH1/NM_002215.3/1;CC=c.1889-27A>C;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1463-27A>C;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1025-27A>C;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1025-27A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:98:46:0:0:98:3225:369.09:132.85:236.24:1.00:1.00:1.00:60:41.4:0:0:91:58:37:NM_002215.3(ITIH1) c.1889-27A>C,NM_002215.3(ITIH1) c.1889-27A>C:0.41,0.41:0.362141,0.362141 3 52821219 . G . . NT END=52821607;NT GT ./. 3 52821629 . G . . NT END=52822001;NT GT ./. 3 52821992 rs68094128 CT C 123 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=CT/0.7117,C/0.2883;NP=2023;PC=0.001;Gene=ITIH1/NM_002215.3/1;CC=c.1925-9delT;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1499-9delT;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1061-9delT;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1061-9delT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:30:0:34:34:1067:122.91:79.69:43.22:1.00:1.00:1.00:70:6.9:0:0:40:104:25:NM_002215.3(ITIH1) c.1925-9delT,NM_002215.3(ITIH1) c.1925-9delT:0.37,0.37:NOT_FOUND,NOT_FOUND 3 52822083 . G . . NT END=52822247;NT GT ./. 3 52822362 . G . . NT END=52823668;NT GT ./. 3 52822509 rs2239550 G C 41 nt VT=SNV;PN=C;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6601,C/0.3399;Gene=ITIH1/NM_002215.3/1;CC=c.2119+148G>C;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1693+148G>C;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1255+148G>C;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1255+148G>C;VC=Intron;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:C,T:12:2:0:0:11,1:363,10:41.13,0.50:5.61,0.00:35.52,0.50:1.00,0.00:0.99,0.00:1.00,0.00:60,60:33.8,137.0:0,0:0,0:81,130:70,21:23,0:NM_002215.3(ITIH1) c.2119+148G>C,NM_002215.3(ITIH1) c.2119+148G>C:0.41,0.41:NOT_FOUND,NOT_FOUND 3 52823430 rs4687550 T G 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6679,G/0.3321;PC=0.009;Gene=ITIH1/NM_002215.3/1;CC=c.2120-239T>G;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1694-239T>G;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1256-239T>G;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1256-239T>G;VC=Intron;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:G:7:7:0:0:7:177:20.91:20.91:0.00:1.00:1.00:0.00:60:61.0:0:0:56:93:34:NM_002215.3(ITIH1) c.2120-239T>G,NM_002215.3(ITIH1) c.2120-239T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52823448 rs4687551 T C 26 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.65,C/0.35;Gene=ITIH1/NM_002215.3/1;CC=c.2120-221T>C;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1694-221T>C;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1256-221T>C;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1256-221T>C;VC=Intron;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:8:0:0:8:219:25.66:25.66:0.00:1.00:1.00:0.00:60:57.4:0:0:59:90:36:NM_002215.3(ITIH1) c.2120-221T>C,NM_002215.3(ITIH1) c.2120-221T>C:0.41,0.41:NOT_FOUND,NOT_FOUND 3 52823871 . G . . NT END=52824764;NT GT ./. 3 52824095 rs2270197 T G 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7318,G/0.2682;Gene=ITIH1/NM_002215.3/1;CC=c.2321+225T>G;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1895+225T>G;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1457+225T>G;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1457+225T>G;VC=Intron;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:308:35.54:0.00:35.54:1.00:0.00:1.00:60:48.8:0:0:75:75:30:NM_002215.3(ITIH1) c.2321+225T>G,NM_002215.3(ITIH1) c.2321+225T>G:0.34,0.34:NOT_FOUND,NOT_FOUND 3 52824610 rs6778329 G A 57 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6707,A/0.3293;Gene=ITIH1/NM_002215.3/1;CC=c.2322-155G>A;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.1896-155G>A;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1458-155G>A;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1458-155G>A;VC=Intron;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:A:17:17:0:0:17:489:56.91:56.91:0.00:1.00:1.00:0.00:60:39.0:0:0:78:73:36:NM_002215.3(ITIH1) c.2322-155G>A,NM_002215.3(ITIH1) c.2322-155G>A:0.4,0.4:NOT_FOUND,NOT_FOUND 3 52824938 . G . . NT END=52825532;NT GT ./. 3 52825281 rs386396646 G GC 23 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.6008,GC/0.3992;DB;DBA=NA;PAF=G/0.6008,GC/0.3992;DB;DBA=NA;PAF=G/0.6008,GC/0.3992;DB;DBA=NA;PAF=G/0.6008,GC/0.3992;NP=35;Gene=ITIH1/NM_002215.3/1;CC=c.2495-249dupC;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.2069-249dupC;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1631-249dupC;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1631-249dupC;VC=Intron;DM=ITIH1/ITI_HC_C;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:GC:6:5:6:0:6:200:22.86:19.08:3.78:1.00:1.00:1.00:60:1.3:0:0:63:86:31:NM_002215.3(ITIH1) c.2495-252_2495-251insC,NM_002215.3(ITIH1) c.2495-252_2495-251insC:0.44,0.44:NOT_FOUND,NOT_FOUND 3 52825462 rs1076425 A G 96 nt VT=SNV;PN=G;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6871,G/0.3129;PC=0.009;Gene=ITIH1/NM_002215.3/1;CC=c.2495-71A>G;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.2069-71A>G;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1631-71A>G;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1631-71A>G;VC=Intron;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:G:28:26:0:0:28:827:95.91:78.53:17.37:1.00:1.00:1.00:60:76.1:0:0:49:98:25:NM_002215.3(ITIH1) c.2495-71A>G,NM_002215.3(ITIH1) c.2495-71A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 3 52825528 rs1075653 T C 240 nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.6012,C/0.3988;PC=0.833;Gene=ITIH1/NM_002215.3/1;CC=c.2495-5T>C;VC=Intron;Gene=ITIH1/NM_001166434.2/0;CC=c.2069-5T>C;VC=Intron;Gene=ITIH1/NM_001166435.2/0;CC=c.1631-5T>C;VC=Intron;Gene=ITIH1/NM_001166436.2/0;CC=c.1631-5T>C;VC=Intron;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:C:65:54:0:0:65:2093:240.10:146.96:93.14:1.00:1.00:1.00:60:78.2:0:0:52:97:25:NM_002215.3(ITIH1) c.2495-5T>C,NM_002215.3(ITIH1) c.2495-5T>C:0.45,0.45:0.402276,0.402276 3 52825585 rs9324 T C 276 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.5881,C/0.4119;Gene=ITIH1/NM_002215.3/1;CC=c.2547T>C;ProtCh=p.S849=;VC=Silent;Gene=ITIH1/NM_001166434.2/0;CC=c.2121T>C;ProtCh=p.S707=;VC=Silent;Gene=ITIH1/NM_001166435.2/0;CC=c.1683T>C;ProtCh=p.S561=;VC=Silent;Gene=ITIH1/NM_001166436.2/0;CC=c.1683T>C;ProtCh=p.S561=;VC=Silent;DM=ITIH1/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:76:51:0:0:76:2400:276.07:133.23:142.84:1.00:1.00:1.00:60:68.4:0:0:84:66:25:NM_002215.3(ITIH1) c.2547T>C (p.(=)),NM_002215.3(ITIH1) c.2547T>C (p.(=)):0.46,0.46:0.416654,0.416654 3 52825645 . G . . NT END=52825797;NT GT ./. 3 52825928 . G . . NT END=52828819;NT GT ./. 3 52828628 rs9881468 C T 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7188,T/0.2812;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:208:24.10:24.10:0.00:1.00:1.00:0.00:60:30.0:0:0:55:96:30:NM_002217.3(ITIH3) c.-36-u156C>T,NM_002217.3(ITIH3) c.-36-u156C>T:0.35,0.35:NOT_FOUND,NOT_FOUND 3 52828913 . G . . NT END=52829618;NT GT ./. 3 52829640 . G . . NT END=52830496;NT GT ./. 3 52830664 . G . . NT END=52830754;NT GT ./. 3 52830860 . G . . NT END=52831120;NT GT ./. 3 52831009 rs2240920 C T 179 nt VT=SNV;PN=G;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.6725,T/0.3275;PC=0.002;Gene=ITIH3/NM_002217.3/1;CC=c.387-112C>T;VC=Intron;DM=ITIH3/VIT;DM=ITIH3/VIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:T:52:35:0:0:52:1543:178.93:111.33:67.60:1.00:1.00:1.00:60:39.0:0:0:63:87:35:NM_002217.3(ITIH3) c.387-112C>T,NM_002217.3(ITIH3) c.387-112C>T:0.39,0.39:NOT_FOUND,NOT_FOUND 3 52831284 . G . . NT END=52831832;NT GT ./. 3 52831701 rs2240919 C G 61 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.7554,G/0.2446;Gene=ITIH3/NM_002217.3/1;CC=c.550-132C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:530:60.51:60.51:0.00:1.00:1.00:0.00:60:41.2:0:0:83:67:48:NM_002217.3(ITIH3) c.550-132C>G,NM_002217.3(ITIH3) c.550-132C>G:0.31,0.31:NOT_FOUND,NOT_FOUND 3 52831947 . G . . NT END=52832981;NT GT ./. 3 52833108 . G . . NT END=52833387;NT GT ./. 3 52833219 rs2535629 G A 141 nt VT=SNV;PN=T;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.5156,A/0.4844;Gene=ITIH3/NM_002217.3/1;CC=c.789+112G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:14:0:0:41:1219:141.30:38.40:102.90:1.00:1.00:1.00:60:37.4:0:0:92:59:29:NM_002217.3(ITIH3) c.789+112G>A,NM_002217.3(ITIH3) c.789+112G>A:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52833505 . G . . NT END=52833768;NT GT ./. 3 52833805 rs3617 C A 229 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.4563,A/0.5437;Gene=ITIH3/NM_002217.3/1;CC=c.943C>A;ProtCh=p.Q315K;VC=Missense;DM=ITIH3/VWA;DM=ITIH3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:174:A,G:66:48:0:0:65,1:1982,12:228.55,0.22:130.70,0.00:97.86,0.22:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,172.0:0,0:0,0:81,96:70,55:33,0:NM_002217.3(ITIH3) c.943C>A (p.Gln315Lys),NM_002217.3(ITIH3) c.943C>A (p.Gln315Lys):0.57,0.57:0.542364,0.542364 3 52833938 . G . . NT END=52834553;NT GT ./. 3 52834680 . G . . NT END=52834980;NT GT ./. 3 52835163 . G . . NT END=52836349;NT GT ./. 3 52835354 rs736408 C T 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.5108,T/0.4892;Gene=ITIH3/NM_002217.3/1;CC=c.1383+192C>T;VC=Intron;DM=ITIH3/VWA;DM=ITIH3/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:191:21.96:0.00:21.96:1.00:0.00:1.00:60:41.2:0:0:99:51:29:NM_002217.3(ITIH3) c.1383+192C>T,NM_002217.3(ITIH3) c.1383+192C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 3 52836109 rs5848961 C CT 24 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=16;PC=0.205;Gene=ITIH3/NM_002217.3/1;CC=c.1384-230dupT;VC=Intron;DM=ITIH3/VWA;DM=ITIH3/VWA;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:CT:7:8:8:0:7:243:23.93:23.93:0.00:1.00:1.00:0.00:60:28.0:1:0:31:119:22:NM_002217.3(ITIH3) c.1384-241_1384-240insT,NM_002217.3(ITIH3) c.1384-241_1384-240insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52836536 . G . . NT END=52836682;NT GT ./. 3 52836823 . G . . NT END=52837870;NT GT ./. 3 52837793 rs4481150 T C 152 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.4896,C/0.5104;Gene=ITIH3/NM_002217.3/1;CC=c.1710-78T>C;VC=Intron;DM=ITIH3/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:C:40:39:0:0:40:1328:151.68:121.20:30.49:1.00:1.00:1.00:60:67.0:0:0:47:101:37:NM_002217.3(ITIH3) c.1710-78T>C,NM_002217.3(ITIH3) c.1710-78T>C:0.53,0.53:NOT_FOUND,NOT_FOUND 3 52837855 rs2710331 T C 281 nt VT=SNV;PN=C;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.6112,C/0.3888;Gene=ITIH3/NM_002217.3/1;CC=c.1710-16T>C;VC=Intron;DM=ITIH3/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:79:64:0:0:79:2434:280.73:194.92:85.81:1.00:1.00:1.00:60:53.2:0:0:59:92:26:NM_002217.3(ITIH3) c.1710-16T>C,NM_002217.3(ITIH3) c.1710-16T>C:0.43,0.43:0.390951,0.390951 3 52838026 . G . . NT END=52838741;NT GT ./. 3 52838751 . G . . NT END=52839277;NT GT ./. 3 52839389 . g . . NT END=52839585;NT GT ./. 3 52839497 rs372696914 C T 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=NA;Gene=ITIH3/NM_002217.3/1;CC=c.1874-327C>T;VC=Intron;DM=ITIH3/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:28:0:0:19,19:615,630:0.00,60.63:0.00,39.60:0.00,21.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:18.1,41.9:0,0:0,0:40,60:111,91:28,36:-,NM_002217.3(ITIH3) c.1874-327C>T:-,NOT_FOUND:-,NOT_FOUND 3 52839800 . C . . NT END=52839823;NT GT ./. 3 52839857 . G . . NT END=52840118;NT GT ./. 3 52840155 . G . . NT END=52840308;NT GT ./. 3 52840423 . G . . NT END=52840916;NT GT ./. 3 52841122 . G . . NT END=52841762;NT GT ./. 3 52841933 . G . . NT END=52842125;NT GT ./. 3 52842238 . G . . NT END=52842567;NT GT ./. 3 52842698 . G . . NT END=52847436;NT GT ./. 3 52847507 . C . . NT END=52847990;NT GT ./. 3 52847601 rs2071044 C T 83 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.4473,T/0.5527;Gene=ITIH4/NM_001166449.1/0;CC=c.2634-95G>A;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.2724-95G>A;VC=Intron;DM=ITIH4/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:T:23:4:0:0:23:719:82.86:7.89:74.97:1.00:1.00:1.00:60:42.7:0:0:121:30:24:NM_002218.4(ITIH4) c.2724-95G>A,NM_002218.4(ITIH4) c.2724-95G>A:0.57,0.57:NOT_FOUND,NOT_FOUND 3 52848088 . C . . NT END=52848224;NT GT ./. 3 52848380 . C . . NT END=52850899;NT GT ./. 3 52851075 . C . . NT END=52852067;NT GT ./. 3 52851137 rs2240917 T C 155 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.4922,C/0.5078;Gene=ITIH4/NM_001166449.1/0;CC=c.2207-63A>G;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.2297-63A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:C:47:10:0:0:47:1328:154.51:18.88:135.63:1.00:1.00:1.00:60:33.3:0:0:111:39:25:NM_002218.4(ITIH4) c.2297-63A>G,NM_002218.4(ITIH4) c.2297-63A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 3 52852060 rs2245538 T C 224 nt VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.4922,C/0.5078;Gene=ITIH4/NM_001166449.1/0;CC=c.2206+8A>G;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.2296+8A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:172:C,T:65:58:0:0:64,1:1950,11:223.56,0.00:164.62,0.00:58.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.0,109.0:0,0:0,0:31,59:117,91:22,0:NM_002218.4(ITIH4) c.2296+8A>G,NM_002218.4(ITIH4) c.2296+8A>G:0.5,0.5:0.47432,0.47432 3 52852185 . C . . NT END=52852272;NT GT ./. 3 52852300 . C . . NT END=52852477;NT GT ./. 3 52852538 rs4687657 G T 161 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7422,A/.,T/0.2578;Gene=ITIH4/NM_001166449.1/0;CC=c.2002C>A;ProtCh=p.P668T;VC=Missense;Gene=ITIH4/NM_002218.4/1;CC=c.2092C>A;ProtCh=p.P698T;VC=Missense;DM=ITIH4/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:T:44:25:0:0:44:1399:160.87:57.24:103.63:1.00:1.00:1.00:60:45.7:0:0:78:55:27:NM_002218.4(ITIH4) c.2092C>A (p.Pro698Thr),NM_002218.4(ITIH4) c.2092C>A (p.Pro698Thr):0.31,0.31:0.250308,0.250308 3 52852553 . C . . NT END=52853408;NT GT ./. 3 52853340 rs7620907 G C 116 nt VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=3344;Gene=ITIH4/NM_001166449.1/0;CC=c.1987+69C>G;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.2077+69C>G;VC=Intron;DM=ITIH4/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:78:A,C:33:30:0:1:1,32:10,1016:0.25,116.43:0.25,87.27:0.00,29.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:197.0,41.9:0,0:0,0:63,31:87,119:0,15:NM_002218.4(ITIH4) c.2077+69C>G,NM_002218.4(ITIH4) c.2077+69C>G:1,1:NOT_FOUND,NOT_FOUND 3 52853535 . C . . NT END=52853769;NT GT ./. 3 52853747 rs2276815 C G 129 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.7416,G/0.2584;Gene=ITIH4/NM_001166449.1/0;CC=c.1862-213G>C;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.1951+23G>C;VC=Intron;DM=ITIH4/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:G:36:23:0:0:36:1121:129.18:63.32:65.86:1.00:1.00:1.00:60:41.7:0:0:49:100:22:NM_002218.4(ITIH4) c.1951+23G>C,NM_002218.4(ITIH4) c.1951+23G>C:0.31,0.31:0.252576,0.252576 3 52853809 . C . . NT END=52853955;NT GT ./. 3 52854007 . C . . NT END=52854306;NT GT ./. 3 52854186 rs2239548 A C 109 nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.4918,C/0.5082;Gene=ITIH4/NM_001166449.1/0;CC=c.1861+121T>G;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.1861+121T>G;VC=Intron;DM=ITIH4/ITI_HC_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:20:0:0:28:957:109.05:63.38:45.67:1.00:1.00:1.00:60:42.1:0:0:57:85:35:NM_002218.4(ITIH4) c.1861+121T>G,NM_002218.4(ITIH4) c.1861+121T>G:0.5,0.5:NOT_FOUND,NOT_FOUND 3 52854334 . C . . NT END=52854646;NT GT ./. 3 52854802 . C . . NT END=52855006;NT GT ./. 3 52855147 . C . . NT END=52857571;NT GT ./. 3 52855229 rs2239547 T C 134 nt VT=SNV;PN=A;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.741,C/0.259;Gene=ITIH4/NM_001166449.1/0;CC=c.1540-83A>G;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.1540-83A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:C:35:12:0:0:35:1178:134.46:25.85:108.61:1.00:1.00:1.00:60:37.5:0:0:113:33:22:NM_002218.4(ITIH4) c.1540-83A>G,NM_002218.4(ITIH4) c.1540-83A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 3 52857758 . C . . NT END=52857838;NT GT ./. 3 52858021 . C . . NT END=52858205;NT GT ./. 3 52858332 . C . . NT END=52858412;NT GT ./. 3 52858582 . C . . NT END=52858857;NT GT ./. 3 52858975 . C . . NT END=52859901;NT GT ./. 3 52859630 rs2535633 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4914,G/0.5086;PC=0.001;Gene=ITIH4/NM_001166449.1/0;CC=c.759+272G>C;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.759+272G>C;VC=Intron;DM=ITIH4/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:132:15.11:15.11:0.00:1.00:1.00:0.00:60:35.8:0:0:32:118:16:NM_002218.4(ITIH4) c.759+272G>C,NM_002218.4(ITIH4) c.759+272G>C:0.5,0.5:NOT_FOUND,NOT_FOUND 3 52860031 . C . . NT END=52860556;NT GT ./. 3 52860366 rs4687658 C G 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7548,G/0.2452;Gene=ITIH4/NM_001166449.1/0;CC=c.630+191G>C;VC=Intron;Gene=ITIH4/NM_002218.4/1;CC=c.630+191G>C;VC=Intron;DM=ITIH4/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:5:0:0:7:225:25.84:18.08:7.75:1.00:1.00:1.00:60:42.4:0:0:53:97:45:NM_002218.4(ITIH4) c.630+191G>C,NM_002218.4(ITIH4) c.630+191G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 3 52860668 . C . . NT END=52860806;NT GT ./. 3 52860816 rs2276816 C T 455 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=130;DB;DBA=NA;PAF=C/0.9293,T/0.07069;PC=0.226;Gene=ITIH4/NM_001166449.1/0;CC=c.510G>A;ProtCh=p.K170=;VC=Silent;Gene=ITIH4/NM_002218.4/1;CC=c.510G>A;ProtCh=p.K170=;VC=Silent;DM=ITIH4/VWA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:130:99:0:0:2,128:71,3985:0.00,454.82:0.00,257.50:0.00,197.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,48.0:0,0:0,0:85,55:61,89:0,31:NM_002218.4(ITIH4) c.510G>A (p.(=)),NM_002218.4(ITIH4) c.510G>A (p.(=)):0.07,0.07:0.082962,0.082962 3 52860936 rs2276817 C T 476 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.755,T/0.245;PC=0.842;Gene=ITIH4/NM_001166449.1/0;CC=c.390G>A;ProtCh=p.V130=;VC=Silent;Gene=ITIH4/NM_002218.4/1;CC=c.390G>A;ProtCh=p.V130=;VC=Silent;DM=ITIH4/VIT;DM=ITIH4/VIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:135:87:0:0:2,133:23,4137:0.41,475.92:0.00,227.63:0.41,248.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.5,45.3:0,0:0,0:15,85:134,61:9,36:NM_002218.4(ITIH4) c.390G>A (p.(=)),NM_002218.4(ITIH4) c.390G>A (p.(=)):0.29,0.29:0.226972,0.226972 3 52860970 . C . . NT END=52861108;NT GT ./. 3 52861211 rs13072536 A T 144 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.7548,T/0.2452;PC=0.983;Gene=ITIH4/NM_001166449.1/0;CC=c.254T>A;ProtCh=p.I85N;VC=Missense;Gene=ITIH4/NM_002218.4/1;CC=c.254T>A;ProtCh=p.I85N;VC=Missense;DM=ITIH4/VIT;DM=ITIH4/VIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:24:0:0:39:1254:143.99:53.06:90.93:1.00:1.00:1.00:60:43.7:0:0:83:56:25:NM_002218.4(ITIH4) c.254T>A (p.Ile85Asn),NM_002218.4(ITIH4) c.254T>A (p.Ile85Asn):0.29,0.29:0.227126,0.227126 3 52861214 . C . . NT END=52863134;NT GT ./. 3 52863296 . C . . NT END=52864568;NT GT ./. 3 52864584 rs2071042 A G 189 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=A/0.4916,G/0.5084;Gene=ITIH4/NM_001166449.1/0;CC=c.75T>C;ProtCh=p.T25=;VC=Silent;Gene=ITIH4/NM_002218.4/1;CC=c.75T>C;ProtCh=p.T25=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:G:50:40:0:0:50:1655:189.31:116.80:72.51:1.00:1.00:1.00:60:47.6:0:0:62:84:30:NM_002218.4(ITIH4) c.75T>C (p.(=)),NM_002218.4(ITIH4) c.75T>C (p.(=)):0.5,0.5:0.475473,0.475473 3 52864659 . C . . NT END=52867339;NT GT ./. 3 52864693 rs2071041 T G 210 nt VT=SNV;PN=C;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.6406,G/0.3594;Gene=ITIH4/NM_001166449.1/0;CC=c.-35A>C;VC=5UTR;Gene=ITIH4/NM_002218.4/1;CC=c.-35A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:G:55:24:0:0:55:1834:209.59:53.46:156.13:1.00:1.00:1.00:60:47.8:0:0:99:46:20:NM_002218.4(ITIH4) c.-35A>C,NM_002218.4(ITIH4) c.-35A>C:0.38,0.38:0.33746,0.33746 3 52864860 rs2071040 A G 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8077,G/0.1923 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:154:18.22:0.00:18.22:1.00:0.00:1.00:60:74.2:0:0:65:85:44:NM_002218.4(ITIH4) c.-59-u143T>C,NM_002218.4(ITIH4) c.-59-u143T>C:0.25,0.25:NOT_FOUND,NOT_FOUND 3 52864888 rs2276819 A G 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1709,G/0.8291 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:167:19.08:0.00:19.08:1.00:0.00:1.00:60:72.2:0:0:51:100:20:NM_002218.4(ITIH4) c.-59-u171T>C,NM_002218.4(ITIH4) c.-59-u171T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52866988 rs9681089 A G 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1711,G/0.8289 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:35.5:0:0:23:127:10:NM_002218.4(ITIH4) c.-59-u2271T>C,NM_002218.4(ITIH4) c.-59-u2271T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52867288 rs4687661 A T 365 nt VT=SNV;PN=G;NN=A;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.1711,T/0.8289;PC=0.001;Gene=MUSTN1/NM_205853.3/1;CC=c.*52T>A;VC=3UTR;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.*52T>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:105:97:0:0:105:3151:364.90:299.72:65.18:1.00:1.00:1.00:60:38.4:0:0:30:118:20:NM_001198974.2(TMEM110-MUSTN1) c.*52T>A,NM_001198974.2(TMEM110-MUSTN1) c.*52T>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52867447 . C . . NT END=52867632;NT GT ./. 3 52867715 rs6787916 G C 848 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=225;DB;DBA=NA;PAF=G/0.04852,C/0.9515;PC=0.996;Gene=MUSTN1/NM_205853.3/1;CC=c.60C>G;ProtCh=p.D20E;VC=Missense;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.930C>G;ProtCh=p.D310E;VC=Missense;DM=MUSTN1/Mustang;DM=TMEM110-MUSTN1/Mustang GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:225:155:0:0:225:7410:848.04:417.05:430.99:1.00:1.00:1.00:60:51.8:0:0:63:85:30:NM_001198974.2(TMEM110-MUSTN1) c.930C>G (p.Asp310Glu),NM_001198974.2(TMEM110-MUSTN1) c.930C>G (p.Asp310Glu):0.96,0.96:0.952974,0.952974 3 52867766 . C . . NT END=52868955;NT GT ./. 3 52867811 rs6776876 A T 605 nt VT=SNV;PN=G;NN=A;SST=Single;DP=166;DB;DBA=NA;PAF=A/0.01318,T/0.9868;Gene=MUSTN1/NM_205853.3/1;CC=c.10-46T>A;VC=Intron;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.880-46T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:166:66:0:0:166:5265:605.43:166.77:438.66:1.00:1.00:1.00:60:54.3:0:0:91:54:27:NM_001198974.2(TMEM110-MUSTN1) c.880-46T>A,NM_001198974.2(TMEM110-MUSTN1) c.880-46T>A:0.99,0.99:0.98728,0.98728 3 52868056 rs2276821 A G 39 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1709,G/0.8291;Gene=MUSTN1/NM_205853.3/1;CC=c.10-291T>C;VC=Intron;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.880-291T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:1:0:0:11:342:39.41:3.78:35.63:1.00:1.00:1.00:60:89.4:0:0:101:49:38:NM_001198974.2(TMEM110-MUSTN1) c.880-291T>C,NM_001198974.2(TMEM110-MUSTN1) c.880-291T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52868075 rs2276822 A G 26 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.1711,G/0.8289;Gene=MUSTN1/NM_205853.3/1;CC=c.10-310T>C;VC=Intron;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.880-310T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:1:0:0:8:228:26.49:0.95:25.54:1.00:1.00:1.00:60:101.4:0:0:103:40:30:NM_001198974.2(TMEM110-MUSTN1) c.880-310T>C,NM_001198974.2(TMEM110-MUSTN1) c.880-310T>C:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52868668 rs142854055 G GCACACA 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=8;PC=0.001;Gene=MUSTN1/NM_205853.3/1;CC=c.9+287_9+288insTGTGTG;VC=Intron;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.880-904_880-903insTGTGTG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:G,GCACACA:6:6:3:0:3,3:105,101:0.00,9.72:0.00,8.24:0.00,1.49:0.00,0.73:0.00,0.73:0.00,0.89:60,60:30.0,76.0:0,0:0,0:117,26:25,122:11,10:-,NM_001198974.2(TMEM110-MUSTN1) c.880-904_880-903insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 52868670 rs71087024 G A 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1879,A/0.8121;DB;DBA=NA;PAF=NA;Gene=MUSTN1/NM_205853.3/1;CC=c.9+286C>T;VC=Intron;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.880-905C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:0:6:180:20.84:15.07:5.77:1.00:1.00:1.00:60:53.0:0:0:92:33:32:NM_001198974.2(TMEM110-MUSTN1) c.880-905C>T,NM_001198974.2(TMEM110-MUSTN1) c.880-905C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52868965 . G . . NT END=52874509;NT GT ./. 3 52874288 rs6445538 T C 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.7558,C/0.2442;PC=1.000;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.879+228A>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.*222A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:C:13:13:0:0:13:367:42.87:42.87:0.00:1.00:1.00:0.00:60:75.8:0:0:28:120:22:NM_198563.2(TMEM110) c.*222A>G,NM_198563.2(TMEM110) c.*222A>G:0.29,0.29:NOT_FOUND,NOT_FOUND 3 52874296 rs6445539 G A 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.7532,A/0.2468;PC=0.999;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.879+220C>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.*214C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:415:48.57:48.57:0.00:1.00:1.00:0.00:60:72.1:0:0:35:115:26:NM_198563.2(TMEM110) c.*214C>T,NM_198563.2(TMEM110) c.*214C>T:0.29,0.29:NOT_FOUND,NOT_FOUND 3 52874627 . C . . NT END=52876826;NT GT ./. 3 52874716 rs71901519 GT G 57 idl,rn VT=DEL;SST=Single;DP=59;DB;DBA=NA;PAF=NA;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.769-91delA;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.769-91delA;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,T,I,G:51:8:4:30:25,2,3,21:738,52,117,822:0.00,2.86,5.70,57.24:0.00,-0.06,-0.09,2.41:0.00,2.92,5.79,54.82:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.95:0.00,0.00,0.00,1.00:60,60,60,60:23.6,87.5,70.0,56.5:0,1,1,7:0,0,0,0:134,62,118,97:11,67,33,54:9,44,2,21:-,NM_001198974.2(TMEM110-MUSTN1) c.769-91delA:-,NOT_FOUND:-,NOT_FOUND 3 52874779 rs7638431 G A 123 nt VT=SNV;PN=C;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.1723,A/0.8277;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.769-153C>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.769-153C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A:35:1:0:0:35:1069:123.42:3.98:119.45:1.00:1.00:1.00:60:57.1:0:0:114:32:24:NM_001198974.2(TMEM110-MUSTN1) c.769-153C>T,NM_001198974.2(TMEM110-MUSTN1) c.769-153C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 3 52874861 rs7638524 G A 33 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.753,A/0.247;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.769-235C>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.769-235C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:1:0:0:9:285:32.79:1.94:30.85:1.00:1.00:1.00:60:54.6:0:0:97:54:18:NM_001198974.2(TMEM110-MUSTN1) c.769-235C>T,NM_001198974.2(TMEM110-MUSTN1) c.769-235C>T:0.29,0.29:NOT_FOUND,NOT_FOUND 3 52876535 rs4687667 A C 42 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1725,C/0.8275;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.768+292T>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.768+292T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C,G:13:13:0:0:12,1:370,9:42.26,0.40:42.26,0.40:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:60.0,91.0:0,0:0,0:36,85:114,66:25,0:NM_001198974.2(TMEM110-MUSTN1) c.768+292T>G,NM_001198974.2(TMEM110-MUSTN1) c.768+292T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52876716 rs6776990 C T 383 nt VT=SNV;PN=T;NN=G;SST=Single;DP=107;DB;DBA=NA;PAF=C/0.1725,T/0.8275;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.768+111G>A;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.768+111G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:107:103:0:0:107:3322:383.00:354.61:28.39:1.00:1.00:1.00:60:38.2:0:0:35:114:26:NM_001198974.2(TMEM110-MUSTN1) c.768+111G>A,NM_001198974.2(TMEM110-MUSTN1) c.768+111G>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52876977 . C . . NT END=52877736;NT GT ./. 3 52877428 rs7647534 G A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1725,A/0.8275;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.618+309C>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.618+309C>T;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:7:0:0:9:247:28.90:21.35:7.55:1.00:1.00:1.00:60:58.3:0:0:88:63:34:NM_001198974.2(TMEM110-MUSTN1) c.618+309C>T,NM_001198974.2(TMEM110-MUSTN1) c.618+309C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52877647 rs55829187 C CA 186 nt VT=INS;SST=Single;DP=58;DB;DBA=NA;PAF=C/0.9944,CA/0.005591;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.9944,CA/0.005591,CAA/.;NP=3117;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.618+89dupT;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.618+89dupT;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C,CA:58:55:54:0:4,54:91,1663:0.00,185.86:0.00,169.20:0.00,16.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:55.0,68.9:1,0:0,0:149,38:1,112:1,20:NM_001198974.2(TMEM110-MUSTN1) c.618+89_618+90insT,NM_001198974.2(TMEM110-MUSTN1) c.618+89_618+90insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52877649 rs56008508 G A 207 idl,nt VT=SNV;PN=A;NN=G;SST=Single;DP=57;DB;DBA=NA;PAF=NA;NP=284;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.618+88C>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.618+88C>T;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:A:57:53:0:0:57:1803:207.36:181.70:25.67:1.00:1.00:1.00:60:72.3:55:0:40:110:20:NM_001198974.2(TMEM110-MUSTN1) c.618+88C>T,NM_001198974.2(TMEM110-MUSTN1) c.618+88C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52877720 rs4687668 T C 501 nt VT=SNV;PN=A;NN=G;SST=Single;DP=136;DB;DBA=NA;PAF=T/0.1184,C/0.8816;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.618+17A>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.618+17A>G;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:136:116:0:0:136:4361:500.60:318.54:182.06:1.00:1.00:1.00:60:51.5:0:0:53:92:28:NM_001198974.2(TMEM110-MUSTN1) c.618+17A>G,NM_001198974.2(TMEM110-MUSTN1) c.618+17A>G:0.9,0.9:0.88167,0.88167 3 52877815 . C . . NT END=52878844;NT GT ./. 3 52878087 rs4687669 G A 37 nt VT=SNV;PN=A;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.1008,A/0.8992;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.541-273C>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.541-273C>T;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:1:0:0:10:319:36.64:3.78:32.86:1.00:1.00:1.00:60:36.9:0:0:125:25:18:NM_001198974.2(TMEM110-MUSTN1) c.541-273C>T,NM_001198974.2(TMEM110-MUSTN1) c.541-273C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 52878721 rs7650966 G C 64 nt VT=SNV;PN=T;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.1176,C/0.8824;PC=0.049;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.540+124C>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.540+124C>G;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:561:64.21:64.21:0.00:1.00:1.00:0.00:60:55.1:0:0:70:81:41:NM_001198974.2(TMEM110-MUSTN1) c.540+124C>G,NM_001198974.2(TMEM110-MUSTN1) c.540+124C>G:0.91,0.91:NOT_FOUND,NOT_FOUND 3 52878746 rs10663469 C CAG 68 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.1176,CAG/0.8824,CGA/.;NP=2973;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.540+98_540+99insCT;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.540+98_540+99insCT;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:C,G,CAG:21:21:19:0:1,1,19:34,24,609:0.00,1.55,68.11:0.00,1.55,68.11:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:32.0,205.0,44.3:0,1,0:0,0,0:144,73,54:2,78,97:0,0,40:NM_001198974.2(TMEM110-MUSTN1) c.540+98_540+99insCT,NM_001198974.2(TMEM110-MUSTN1) c.540+98_540+99insCT:0.91,0.91:NOT_FOUND,NOT_FOUND 3 52878825 rs7629528 C A 258 nt VT=SNV;PN=T;NN=A;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.122,A/0.878;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.540+20G>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.540+20G>T;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:73:66:0:0:73:2237:258.32:196.70:61.62:1.00:1.00:1.00:60:43.8:0:0:41:108:22:NM_001198974.2(TMEM110-MUSTN1) c.540+20G>T,NM_001198974.2(TMEM110-MUSTN1) c.540+20G>T:0.91,0.91:0.882285,0.882285 3 52878958 . C . . NT END=52881238;NT GT ./. 3 52880995 rs2001734 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1725,C/0.8275;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.428-2038A>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.428-2038A>G;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:134:15.31:15.31:0.00:1.00:1.00:0.00:60:49.2:0:0:33:118:22:NM_001198974.2(TMEM110-MUSTN1) c.428-2038A>G,NM_001198974.2(TMEM110-MUSTN1) c.428-2038A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52881565 . C . . NT END=52883807;NT GT ./. 3 52881634 rs5848962 T TG 147 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.1176,TG/0.8824;NP=120;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.427+2173dupC;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.427+2173dupC;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:T,TG:43:7:41:0:2,41:66,1307:0.00,146.73:0.00,15.90:0.00,130.82:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,6.9:0,0:0,0:142,92:3,58:0,28:NM_001198974.2(TMEM110-MUSTN1) c.427+2173_427+2174insC,NM_001198974.2(TMEM110-MUSTN1) c.427+2173_427+2174insC:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52883654 rs3216716 CT C 254 nt VT=DEL;SST=Single;DP=72;DB;DBA=NA;PAF=CT/0.1725,C/0.8275;NP=1402;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.427+153delA;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.427+153delA;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:72:72:0:73:72:2199:254.19:254.19:0.00:1.00:1.00:0.00:60:9.9:0:0:57:92:37:NM_001198974.2(TMEM110-MUSTN1) c.427+153delA,NM_001198974.2(TMEM110-MUSTN1) c.427+153delA:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52883655 . T C,G 9 idl;end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:C,G:4:4:0:72:3,1:77,9:8.74,0.78:8.74,0.78:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:29.3,9.0:0,0:0,0:0,66:151,85:0,0:NM_001198974.2(TMEM110-MUSTN1) c.427+153A>G,NM_001198974.2(TMEM110-MUSTN1) c.427+153A>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 52883930 . C . . NT END=52886618;NT GT ./. 3 52884234 rs4687674 G C 44 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.1725,C/0.8275;PC=0.039;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.306-305C>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.306-305C>G;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C,G:14:0:0:0:13,1:397,34:44.29,0.00:0.00,0.00:44.29,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:63.0,147.0:0,0:0,0:107,146:44,5:14,0:NM_001198974.2(TMEM110-MUSTN1) c.306-305C>G,NM_001198974.2(TMEM110-MUSTN1) c.306-305C>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52886406 rs2246889 T C 46 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1723,C/0.8277;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.305+213A>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.305+213A>G;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:C:12:12:0:0:12:404:46.12:46.12:0.00:1.00:1.00:0.00:60:84.2:0:0:53:96:29:NM_001198974.2(TMEM110-MUSTN1) c.305+213A>G,NM_001198974.2(TMEM110-MUSTN1) c.305+213A>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52886411 rs2246888 A C 43 nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.1723,C/0.8277;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.305+208T>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.305+208T>G;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:A,C:13:13:0:0:1,12:10,387:0.00,43.05:0.00,43.05:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:119.0,76.8:0,0:0,0:80,55:71,94:0,33:NM_001198974.2(TMEM110-MUSTN1) c.305+208T>G,NM_001198974.2(TMEM110-MUSTN1) c.305+208T>G:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52886605 rs2276825 T C 255 nt VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.7498,C/0.2502;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.305+14A>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.305+14A>G;VC=Intron;DM=TMEM110-MUSTN1/DUF3661;DM=TMEM110/DUF3661 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:56:0:0:68:2226:254.92:168.79:86.13:1.00:1.00:1.00:60:38.7:0:0:42:105:19:NM_001198974.2(TMEM110-MUSTN1) c.305+14A>G,NM_001198974.2(TMEM110-MUSTN1) c.305+14A>G:0.3,0.3:0.235891,0.235891 3 52886715 . C . . NT END=52889411;NT GT ./. 3 52886914 rs4687675 A T 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.1723,T/0.8277;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.210-200T>A;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.210-200T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:0:0:0:16:501:57.68:0.00:57.68:1.00:0.00:1.00:60:39.8:0:0:112:39:16:NM_001198974.2(TMEM110-MUSTN1) c.210-200T>A,NM_001198974.2(TMEM110-MUSTN1) c.210-200T>A:0.9,0.9:NOT_FOUND,NOT_FOUND 3 52889350 . A C 13 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=47;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.209+62T>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.209+62T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:A,C,D:47:38:0:1:32,14,1:743,187,26:0.00,13.06,1.12:0.00,14.11,1.22:0.00,-1.05,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.99,0.00:60,60,60:39.6,99.6,59.0:0,0,0:0,0,0:25,108,82:125,32,27:20,34,0:-,NM_001198974.2(TMEM110-MUSTN1) c.209+62T>G:-,NOT_FOUND:-,NOT_FOUND 3 52889358 . G A 7 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.209+54C>T;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.209+54C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:42:A,C,G:50:35:0:0:8,4,38:122,38,1026:6.95,0.47,0.00:8.31,1.12,0.00:-1.36,-0.65,0.00:0.96,0.00,0.00:0.99,0.00,0.00:0.94,0.00,0.00:60,60,60:107.0,55.0,34.9:0,0,0:0,0,0:85,126,16:43,20,132:22,9,12:NM_001198974.2(TMEM110-MUSTN1) c.209+54C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 52889365 . A C 7 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=61;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.209+47T>G;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.209+47T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,C:61:40:0:0:53,8:1420,134:0.00,7.12:0.00,8.73:0.00,-1.61:0.00,0.95:0.00,0.98:0.00,0.96:60,60:32.7,88.4:0,0:0,0:19,103:128,19:15,24:-,NM_001198974.2(TMEM110-MUSTN1) c.209+47T>G:-,NOT_FOUND:-,NOT_FOUND 3 52889461 . C . . NT END=52929893;NT GT ./. 3 52889771 rs6803519 C T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7538,T/0.2462;Gene=TMEM110-MUSTN1/NM_001198974.2/1;CC=c.161-311G>A;VC=Intron;Gene=TMEM110/NM_198563.2/1;CC=c.161-311G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:227:26.04:0.00:26.04:1.00:0.00:1.00:60:55.0:0:0:98:51:21:NM_001198974.2(TMEM110-MUSTN1) c.161-311G>A,NM_001198974.2(TMEM110-MUSTN1) c.161-311G>A:0.29,0.29:NOT_FOUND,NOT_FOUND 3 52929972 . C . . NT END=52931306;NT GT ./. 3 52931467 . G . . NT END=52939151;NT GT ./. 3 52939293 . C . . NT END=52940128;NT GT ./. 3 52940258 . C . . NT END=52941084;NT GT ./. 3 52941331 . C . . NT END=52941570;NT GT ./. 3 52941750 . C . . NT END=52945018;NT GT ./. 3 52945195 . C . . NT END=52946553;NT GT ./. 3 52946664 . C . . NT END=52947493;NT GT ./. 3 52947634 . C . . NT END=52950165;NT GT ./. 3 52950231 . C . . NT END=52952499;NT GT ./. 3 52950372 rs71087030 CT C 7 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=13;Gene=SFMBT1/NM_016329.3/1;CC=c.1416-143delA;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:CT,C:10:0:0:4:7,3:184,117:0.00,7.18:0.00,0.00:0.00,7.18:0.00,0.60:0.00,0.00:0.00,0.60:60,60:65.9,30.0:0,1:0,0:133,89:18,61:7,20:-,NM_016329.3(SFMBT1) c.1416-143delA:-,NOT_FOUND:-,NOT_FOUND 3 52952543 . C . . NT END=52954552;NT GT ./. 3 52952675 rs398038705 G GTA 34 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=104;Gene=SFMBT1/NM_016329.3/1;CC=c.1373-134_1373-133insTA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:82:G,GTA:13:0:11:0:3,10:98,353:0.00,33.58:0.00,0.00:0.00,33.58:0.00,1.00:0.00,0.00:0.00,1.00:60,70:0.0,0.0:0,1:0,0:146,72:4,78:3,42:-,NM_016329.3(SFMBT1) c.1373-134_1373-133insTA:-,NOT_FOUND:-,NOT_FOUND 3 52954667 . C . . NT END=52955720;NT GT ./. 3 52955848 . C . . NT END=52960046;NT GT ./. 3 52960013 rs11360013 GC G 179 nt VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=GC/0.03514,G/0.9649;NP=3445;Gene=SFMBT1/NM_016329.3/1;CC=c.1131+33delG;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:G:48:42:0:48:48:1562:179.09:119.46:59.63:1.00:1.00:1.00:60:2.3:0:0:48:99:27:NM_016329.3(SFMBT1) c.1131+33delG,NM_016329.3(SFMBT1) c.1131+33delG:0.97,0.97:0.967891,0.967891 3 52960130 . C . . NT END=52962206;NT GT ./. 3 52962358 . C . . NT END=52964344;NT GT ./. 3 52964447 . C . . NT END=52964956;NT GT ./. 3 52964633 rs5848967 AC A 38 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=595;PC=0.001;Gene=SFMBT1/NM_016329.3/1;CC=c.796-188delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:2:0:11:11:326:37.84:7.55:30.29:1.00:1.00:1.00:60:4.7:0:0:113:37:27:NM_016329.3(SFMBT1) c.796-188delG,NM_016329.3(SFMBT1) c.796-188delG:0.94,0.94:NOT_FOUND,NOT_FOUND 3 52964640 rs5848968 G GA 34 idl,nt VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;Gene=SFMBT1/NM_016329.3/1;CC=c.796-195dupT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:10:G,GA:11:2:10:0:1,10:33,307:0.00,34.01:0.00,7.57:0.00,26.44:0.00,1.00:0.00,0.99:0.00,1.00:60,60:0.0,5.2:1,10:0,0:146,104:3,45:0,27:-,NM_016329.3(SFMBT1) c.796-195_796-194insT:-,0.93:-,NOT_FOUND 3 52965052 . C . . NT END=52966077;NT GT ./. 3 52966325 . C . . NT END=52968828;NT GT ./. 3 52968801 rs2710315 T C 104 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.01637,C/0.9836;Gene=SFMBT1/NM_016329.3/1;CC=c.453+28A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:26:0:0:28:907:104.02:79.67:24.35:1.00:1.00:1.00:60:38.7:0:0:61:83:32:NM_016329.3(SFMBT1) c.453+28A>G,NM_016329.3(SFMBT1) c.453+28A>G:0.99,0.99:0.98247,0.98247 3 52968918 . C . . NT END=52977368;NT GT ./. 3 52977610 . C . . NT END=52988332;NT GT ./. 3 52988428 . C . . NT END=53003116;NT GT ./. 3 53003275 . C . . NT END=53080758;NT GT ./. 3 53006760 rs55859723 AAC A 10 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2;PC=0.006;Gene=SFMBT1/NM_016329.3/1;CC=c.-130-3488_-130-3487delGT;VC=Intron;RN=24 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:AAC,A:6:8:0:7:3,3:100,188:0.00,9.57:0.00,9.66:0.00,-0.09:0.00,0.64:0.00,0.94:0.00,0.63:60,60:47.7,59.3:0,3:0,0:105,32:45,118:21,17:-,NM_016329.3(SFMBT1) c.-130-3488_-130-3487delGT:-,NOT_FOUND:-,NOT_FOUND 3 53006857 . AAC A 8 rn VT=DEL;SST=Single;DP=13;NP=5;PC=0.484;Gene=SFMBT1/NM_016329.3/1;CC=c.-130-3585_-130-3584delGT;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:AAC,C,I,A:13:9:3:3:6,1,3,3:163,12,76,91:0.00,0.43,6.44,7.94:0.00,-0.14,5.03,2.69:0.00,0.57,1.41,5.25:0.00,0.00,0.00,0.58:0.00,0.00,0.00,0.87:0.00,0.00,0.00,0.84:60,60,60,60:21.7,23.0,21.7,35.7:0,0,0,0:0,0,0,0:113,64,76,46:24,87,70,89:14,0,4,5:-,NM_016329.3(SFMBT1) c.-130-3585_-130-3584delGT:-,NOT_FOUND:-,NOT_FOUND 3 53035943 rs12715455 A T 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5703,T/0.4297;Gene=SFMBT1/NM_016329.3/1;CC=c.-130-32669T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:4:4:0:0:1,3:35,102:0.00,10.65:0.00,6.90:0.00,3.75:0.00,0.85:0.00,0.85:0.00,0.95:60,60:10.0,44.0:0,0:0,0:55,33:96,97:0,11:-,NM_016329.3(SFMBT1) c.-130-32669T>A:-,0.39:-,NOT_FOUND 3 53080555 rs3821872 C G 88 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.2342,G/0.7658 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:26:0:0:26:759:88.13:88.13:0.00:1.00:1.00:0.00:60:48.0:0:0:31:119:22:NM_016329.3(SFMBT1) c.-388-u466G>C,NM_016329.3(SFMBT1) c.-388-u466G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 3 53081146 . G . . NT END=53098219;NT GT ./. 3 53098209 rs6803486 T A,TA 220 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=T/0.7476,A/0.2524;PC=0.977 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:55:A,T,TA:73:63:10:0:65,1,7:1947,32,306:220.19,0.00,17.95:153.75,0.00,11.52:66.44,0.00,6.43:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.2,0.0,8.1:0,0,3:0,0,0:69,19,107:82,131,43:30,0,9:chr3 g.53098208T>A (intergenic),chr3 g.53098209_53098210insA (intergenic):0.27,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 53098362 . G . . NT END=53098838;NT GT ./. 3 53098375 rs34882225 A G 568 nt VT=SNV;PN=A;NN=C;SST=Single;DP=146;DB;DBA=NA;PAF=A/0.9784,G/0.02157;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:146:91:0:0:146:4983:567.82:253.82:314.00:1.00:1.00:1.00:60:39.1:0:0:87:60:30:chr3 g.53098374A>G (intergenic),chr3 g.53098374A>G (intergenic):0.03,0.03:NOT_FOUND,NOT_FOUND 3 53098875 rs59989280 T C 293 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.7454,C/0.2546;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:81:46:0:0:81:2543:292.75:128.84:163.90:1.00:1.00:1.00:60:51.6:0:0:87:58:37:chr3 g.53098874T>C (intergenic),chr3 g.53098874T>C (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 3 53098938 rs6789219 C G 233 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.7456,G/0.2544;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:G,T:62:35:0:0:61,1:2042,11:232.86,0.19:101.57,0.19:131.29,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.0,87.0:0,0:0,0:89,136:59,15:34,0:chr3 g.53098937C>G (intergenic),chr3 g.53098937C>G (intergenic):0.28,0.28:NOT_FOUND,NOT_FOUND 3 53098976 . T . . NT END=53125928;NT GT ./. 3 53099153 rs386355919 C CTT 12 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;NP=208;PC=0.430;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:C,CTT:18:0:5:0:13,5:433,144:0.00,12.17:0.00,0.00:0.00,12.17:0.00,0.87:0.00,0.00:0.00,0.87:60,60:29.3,24.8:8,0:0,0:118,84:33,67:13,11:-,chr3 g.53099153_53099154insTT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 53099155 rs71087055 TTC T 17 nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;NP=391;PC=0.383;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:TTC,T:17:0:0:6:11,6:305,193:0.00,17.38:0.00,0.00:0.00,17.38:0.00,0.95:0.00,0.00:0.00,0.95:60,60:40.4,10.2:6,0:0,0:98,120:52,31:21,4:-,chr3 g.53099156_53099157delTC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 53099226 rs71087056 C CTCTCTTTCTTTCTT 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.095;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:C,CTCTCTTTCTTTCTT:5:0:2:0:3,2:60,68:0.00,6.30:0.00,0.00:0.00,6.30:0.00,0.46:0.00,0.00:0.00,0.46:60,60:52.0,0.0:0,0:0,0:101,61:6,87:10,6:-,chr3 g.53099226_53099227insTCTCTTTCTTTCTT (intergenic):-,NOT_FOUND:-,0.260057 3 53125922 rs11242 T C 250 nt VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=in-clinvar;PAF=T/0.5096,C/0.4904;Gene=RFT1/NM_052859.3/1;CC=c.1623A>G;ProtCh=p.T541=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:161:C,T:69:60:0:0:68,1:2203,35:250.27,0.00:173.85,0.00:76.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,106.0:0,0:0,0:59,108:87,43:35,0:NM_052859.3(RFT1) c.1623A>G (p.(=)),NM_052859.3(RFT1) c.1623A>G (p.(=)):0.55,0.55:0.455251,0.455251 3 53126087 . C . . NT END=53126384;NT GT ./. 3 53126143 rs2581786 G A 192 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.5098,A/0.4902;Gene=RFT1/NM_052859.3/1;CC=c.1459-57C>T;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A:50:16:0:0:50:1684:192.24:50.08:142.15:1.00:1.00:1.00:60:39.8:0:0:84:65:35:NM_052859.3(RFT1) c.1459-57C>T,NM_052859.3(RFT1) c.1459-57C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 3 53126635 . C . . NT END=53133396;NT GT ./. 3 53133503 . C . . NT END=53137132;NT GT ./. 3 53133526 rs2581829 A G 145 nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.4788,G/0.5212;PC=0.001;Gene=RFT1/NM_052859.3/1;CC=c.1103-24T>C;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:19:0:0:39:1266:145.11:40.02:105.09:1.00:1.00:1.00:60:38.2:0:0:100:49:32:NM_052859.3(RFT1) c.1103-24T>C,NM_052859.3(RFT1) c.1103-24T>C:0.56,0.56:0.491773,0.491773 3 53137283 . C . . NT END=53137968;NT GT ./. 3 53137311 rs4337632 C G 210 nt VT=SNV;PN=A;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.4788,G/0.5212;Gene=RFT1/NM_052859.3/1;CC=c.1102+658G>C;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:149:G:53:20:0:0:53:1843:209.58:53.94:155.64:1.00:1.00:1.00:60:50.5:0:0:102:43:24:NM_052859.3(RFT1) c.1102+658G>C,NM_052859.3(RFT1) c.1102+658G>C:0.56,0.56:NOT_FOUND,NOT_FOUND 3 53137370 rs4234640 A G 109 nt VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.01717,G/0.9828;PC=0.005;Gene=RFT1/NM_052859.3/1;CC=c.1102+599T>C;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:G:29:7:0:0:29:948:108.63:19.07:89.56:1.00:1.00:1.00:60:70.3:0:0:103:48:36:NM_052859.3(RFT1) c.1102+599T>C,NM_052859.3(RFT1) c.1102+599T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 53138114 . C . . NT END=53139688;NT GT ./. 3 53138254 rs1560333 T C 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.2436,C/0.7564;Gene=RFT1/NM_052859.3/1;CC=c.958-141A>G;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:0:0:0:22:638:74.12:0.00:74.12:1.00:0.00:1.00:60:40.6:0:0:87:63:46:NM_052859.3(RFT1) c.958-141A>G,NM_052859.3(RFT1) c.958-141A>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 53139506 rs2564942 C T 48 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4804,T/0.5196;Gene=RFT1/NM_052859.3/1;CC=c.957+183G>A;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A,T:15:15:0:0:1,14:12,419:0.59,48.11:0.59,48.11:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:141.0,66.6:0,0:0,0:93,17:57,134:0,5:NM_052859.3(RFT1) c.957+183G>A,NM_052859.3(RFT1) c.957+183G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 3 53139507 rs2581774 A G 55 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.4798,G/0.5202;Gene=RFT1/NM_052859.3/1;CC=c.957+182T>C;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:478:54.94:54.94:0.00:1.00:1.00:0.00:60:71.5:0:0:18:133:7:NM_052859.3(RFT1) c.957+182T>C,NM_052859.3(RFT1) c.957+182T>C:0.53,0.53:NOT_FOUND,NOT_FOUND 3 53139820 . C . . NT END=53140834;NT GT ./. 3 53139977 rs2336722 G A 73 nt VT=SNV;PN=C;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.4814,A/0.5186;Gene=RFT1/NM_052859.3/1;CC=c.827-158C>T;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1;DM=RFT1/Rft-1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:0:0:0:19:640:73.03:0.00:73.03:1.00:0.00:1.00:60:45.7:0:0:74:76:30:NM_052859.3(RFT1) c.827-158C>T,NM_052859.3(RFT1) c.827-158C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 3 53140886 . C . . NT END=53145845;NT GT ./. 3 53141152 rs550367742 GTTTT G 12 nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GTTTT/0.2398,G/0.7602;DB;DBA=NA;PAF=GTTTT/0.2398,G/0.7602;NP=2;PC=0.001;Gene=RFT1/NM_052859.3/1;CC=c.776-271_776-268delAAAA;VC=Intron;DM=RFT1/Rft-1;DM=RFT1/Rft-1;DM=RFT1/Rft-1;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:GTTTT,G:7:0:0:4:3,4:98,120:0.00,11.83:0.00,0.00:0.00,11.83:0.00,0.90:0.00,0.00:0.00,0.90:60,70:39.7,14.2:0,0:0,0:141,62:10,87:2,39:-,NM_052859.3(RFT1) c.776-271_776-268delAAAA:-,NOT_FOUND:-,NOT_FOUND 3 53145925 . C . . NT END=53153899;NT GT ./. 3 53154038 . C . . NT END=53155714;NT GT ./. 3 53155817 . C . . NT END=53156389;NT GT ./. 3 53156580 . C . . NT END=53157739;NT GT ./. 3 53157857 . C . . NT END=53159924;NT GT ./. 3 53160011 . C . . NT END=53164353;NT GT ./. 3 53164427 . C . . NT END=53212438;NT GT ./. 3 53212554 . G . . NT END=53213592;NT GT ./. 3 53212574 rs2306571 C G 142 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.4341,G/0.5659;Gene=PRKCD/NM_006254.3/1;CC=c.115+21C>G;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.115+21C>G;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.115+21C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:104:G:38:20:0:0:38:1238:141.88:50.44:91.44:1.00:1.00:1.00:60:47.4:0:0:90:61:26:NM_006254.3(PRKCD) c.115+21C>G,NM_006254.3(PRKCD) c.115+21C>G:0.62,0.62:0.551976,0.551976 3 53213538 rs2035451 C G 259 nt VT=SNV;PN=A;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.09325,G/0.9067;PC=0.001;Gene=PRKCD/NM_006254.3/1;CC=c.116-55C>G;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.116-55C>G;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.116-55C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:68:65:0:0:68:2263:258.72:208.27:50.45:1.00:1.00:1.00:60:39.9:0:0:51:98:31:NM_006254.3(PRKCD) c.116-55C>G,NM_006254.3(PRKCD) c.116-55C>G:0.9,0.9:0.879316,0.879316 3 53213793 . G . . NT END=53215222;NT GT ./. 3 53213815 rs532884597 C CGTGT 142 nt VT=INS;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=1;NP=46;NP=5;Gene=PRKCD/NM_006254.3/1;CC=c.315+43_315+44insGTGT;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.315+43_315+44insGTGT;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.315+43_315+44insGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CGTGT:86:42:49:0:38,1,47:1047,12,1518:0.00,-0.01,142.47:0.00,-0.06,35.69:0.00,0.05,106.78:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:12.0,123.0,13.8:2,0,2:0,0,0:135,40,88:15,91,61:7,0,24:-,NM_006254.3(PRKCD) c.315+23_315+24insGTGT:-,NOT_FOUND:-,NOT_FOUND 3 53213970 rs11130349 C T 41 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2887,T/0.7113;Gene=PRKCD/NM_006254.3/1;CC=c.315+178C>T;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.315+178C>T;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.315+178C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:0:0:0:11:353:40.55:0.00:40.55:1.00:0.00:1.00:60:44.4:0:0:88:63:29:NM_006254.3(PRKCD) c.315+178C>T,NM_006254.3(PRKCD) c.315+178C>T:0.77,0.77:NOT_FOUND,NOT_FOUND 3 53215194 rs370824595 G A 54 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=NA;NP=1;Gene=PRKCD/NM_006254.3/1;CC=c.316-29G>A;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.316-29G>A;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.316-29G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:54:43:0:0:19,35:600,1209:53.85,0.00:28.53,0.00:25.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.4,8.9:0,0:0,0:36,54:100,96:22,24:NM_006254.3(PRKCD) c.316-29G>A,-:NOT_FOUND,-:0.000077,- 3 53215284 . G . . NT END=53215459;NT GT ./. 3 53215623 . G . . NT END=53215716;NT GT ./. 3 53215749 . G . . NT END=53217136;NT GT ./. 3 53215875 rs11130350 A C 84 nt VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.4886,C/0.5114;PC=0.001;Gene=PRKCD/NM_006254.3/1;CC=c.571+127A>C;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.571+127A>C;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.571+127A>C;VC=Intron;DM=PRKCD/C1_1;DM=PRKCD/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:C:23:1:0:0:23:731:84.04:4.08:79.97:1.00:1.00:1.00:60:36.1:0:0:79:71:59:NM_006254.3(PRKCD) c.571+127A>C,NM_006254.3(PRKCD) c.571+127A>C:0.57,0.57:NOT_FOUND,NOT_FOUND 3 53216051 rs6445568 T C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.02057,C/0.9794;Gene=PRKCD/NM_006254.3/1;CC=c.571+303T>C;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.571+303T>C;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.571+303T>C;VC=Intron;DM=PRKCD/C1_1;DM=PRKCD/C1_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:194:22.68:0.00:22.68:1.00:0.00:1.00:60:37.3:0:0:122:29:12:NM_006254.3(PRKCD) c.571+303T>C,NM_006254.3(PRKCD) c.571+303T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 53217223 . G . . NT END=53217467;NT GT ./. 3 53217413 rs2306572 A G 192 nt VT=SNV;PN=G;NN=A;SST=Single;DP=107;DB;DBA=NA;PAF=A/0.7989,G/0.2011;Gene=PRKCD/NM_006254.3/1;CC=c.658-55A>G;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.658-55A>G;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.658-55A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:107:85:0:0:46,61:1492,1950:0.00,192.30:0.00,127.52:0.00,64.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,44.3:0,0:0,0:56,45:93,103:33,26:-,NM_006254.3(PRKCD) c.658-55A>G:-,0.21:-,NOT_FOUND 3 53217598 . G . . NT END=53218889;NT GT ./. 3 53218691 rs535517121 C CAA 11 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5445,CA/0.4555;DB;DBA=NA;PAF=C/0.5445,CA/0.4555,CAA/.;NP=1;NP=1;NP=31;PC=0.564;Gene=PRKCD/NM_006254.3/1;CC=c.788-183_788-182insAA;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.788-183_788-182insAA;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.788-183_788-182insAA;VC=Intron;DM=PRKCD/C1_1;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,C,CAA,D:10:10:4:2:1,4,4,1:8,139,121,65:0.21,0.00,11.46,2.37:-0.17,0.00,11.46,0.95:0.37,0.00,0.00,1.42:0.00,0.00,0.82,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.66,0.00:60,60,60,60:158.0,25.0,57.0,0.0:0,0,0,1:0,0,0,0:108,97,29,62:41,45,121,88:0,28,10,50:-,NM_006254.3(PRKCD) c.788-199_788-198insAA:-,NOT_FOUND:-,NOT_FOUND 3 53218991 . G . . NT END=53219619;NT GT ./. 3 53219717 . G . . NT END=53219942;NT GT ./. 3 53220044 . G . . NT END=53220182;NT GT ./. 3 53220215 rs2230494 G A 184 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.7179,A/0.2821,C/.;PC=1.000;Gene=PRKCD/NM_006254.3/1;CC=c.1119G>A;ProtCh=p.E373=;VC=Silent;Gene=PRKCD/NM_212539.1/0;CC=c.1119G>A;ProtCh=p.E373=;VC=Silent;Gene=PRKCD/NM_001316327/0;CC=c.1119G>A;ProtCh=p.E373=;VC=Silent;DM=PRKCD/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:113:73:0:0:58,1,54:1902,12,1805:184.21,-0.07,0.00:89.88,-0.09,0.00:94.33,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.1,19.0,3.9:0,0,0:0,0,0:82,45,94:67,105,55:27,0,32:NM_006254.3(PRKCD) c.1119G>A (p.(=)),-:0.29,-:0.296709,- 3 53220357 . G . . NT END=53220619;NT GT ./. 3 53220444 rs6793352 T C 164 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.0595,C/0.9405;Gene=PRKCD/NM_006254.3/1;CC=c.1260+88T>C;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.1260+88T>C;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.1260+88T>C;VC=Intron;DM=PRKCD/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:C:43:14:0:0:43:1431:163.60:39.96:123.64:1.00:1.00:1.00:60:45.5:0:0:97:54:37:NM_006254.3(PRKCD) c.1260+88T>C,NM_006254.3(PRKCD) c.1260+88T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 3 53220473 rs72581506 T TC 35 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2330;Gene=PRKCD/NM_006254.3/1;CC=c.1260+123dupC;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.1260+123dupC;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.1260+123dupC;VC=Intron;DM=PRKCD/Pkinase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TC:37:11:12:0:1,24,12:9,675,388:-0.10,0.00,34.59:-0.07,0.00,11.63:-0.03,0.00,22.96:0.00,0.00,1.00:0.00,0.00,0.97:0.00,0.00,1.00:60,60,60:73.0,51.4,24.2:0,0,0:0,0,0:35,95,47:106,55,103:0,42,34:-,NM_006254.3(PRKCD) c.1260+117_1260+118insC:-,0.6:-,NOT_FOUND 3 53220569 rs45596236 G A 82 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.7177,A/0.2823;PC=0.010;Gene=PRKCD/NM_006254.3/1;CC=c.1261-51G>A;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.1261-51G>A;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.1261-51G>A;VC=Intron;DM=PRKCD/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:29:0:0:27,15:815,486:82.41,0.00:40.10,0.00:42.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.4,11.8:0,0:0,0:45,71:105,80:24,34:NM_006254.3(PRKCD) c.1261-51G>A,-:0.29,-:0.296555,- 3 53220712 . G . . NT END=53221355;NT GT ./. 3 53220763 rs372862589 GCTCAGAGC G 37 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;NP=1796;Gene=PRKCD/NM_006254.3/1;CC=c.1352+54_1352+61delTCAGAGCC;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.1352+54_1352+61delTCAGAGCC;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.1352+54_1352+61delTCAGAGCC;VC=Intron;DM=PRKCD/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCTCAGAGC,G:26:6:0:12:14,12:480,390:0.00,36.93:0.00,4.31:0.00,32.63:0.00,1.00:0.00,0.97:0.00,1.00:60,70:7.0,1.8:0,0:0,0:114,100:36,50:29,26:-,NM_006254.3(PRKCD) c.1352+53_1352+60delCTCAGAGC:-,0.33:-,0.34397 3 53221095 rs11130351 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2512,G/0.7488;Gene=PRKCD/NM_006254.3/1;CC=c.1353-261A>G;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.1353-261A>G;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.1353-261A>G;VC=Intron;DM=PRKCD/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:5:0:0:6:152:18.04:14.16:3.88:1.00:1.00:1.00:60:56.0:0:0:17:134:13:NM_006254.3(PRKCD) c.1353-261A>G,NM_006254.3(PRKCD) c.1353-261A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 53221419 . G . . NT END=53222735;NT GT ./. 3 53222761 rs2306574 C T 185 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=131;DB;DBA=NA;PAF=C/0.2865,T/0.7135;PC=1.000;Gene=PRKCD/NM_006254.3/1;CC=c.1441C>T;ProtCh=p.L481=;VC=Silent;Gene=PRKCD/NM_212539.1/0;CC=c.1441C>T;ProtCh=p.L481=;VC=Silent;Gene=PRKCD/NM_001316327/0;CC=c.1441C>T;ProtCh=p.L481=;VC=Silent;DM=PRKCD/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:131:105:0:0:69,1,61:2382,9,1946:0.00,-0.18,184.68:0.00,-0.08,114.44:0.00,-0.09,70.24:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.3,117.0,43.1:0,0,0:0,0,0:63,108,72:75,43,78:27,0,34:-,NM_006254.3(PRKCD) c.1441C>T (p.(=)):-,0.73:-,0.758265 3 53222875 . G . . NT END=53223073;NT GT ./. 3 53223263 . G . . NT END=53223888;NT GT ./. 3 53223286 . GCTGGT G 59 nt VT=DEL;SST=Single;DP=65;NP=1393;Gene=PRKCD/NM_006254.3/1;CC=c.1743+29_1743+33delTCTGG;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.1743+29_1743+33delTCTGG;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.1743+29_1743+33delTCTGG;VC=Intron;DM=PRKCD/Pkinase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCTGGT,G:65:27:0:22:43,22:1137,668:0.00,59.28:0.00,11.77:0.00,47.51:0.00,1.00:0.00,1.00:0.00,1.00:60,60:57.5,12.2:0,0:0,0:111,103:39,45:26,24:-,NM_006254.3(PRKCD) c.1743+25_1743+29delCTGGT:-,NOT_FOUND:-,NOT_FOUND 3 53223291 rs7630600 T G 129 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.08986,G/0.9101;NP=682;Gene=PRKCD/NM_006254.3/1;CC=c.1743+29T>G;VC=Intron;Gene=PRKCD/NM_212539.1/0;CC=c.1743+29T>G;VC=Intron;Gene=PRKCD/NM_001316327/0;CC=c.1743+29T>G;VC=Intron;DM=PRKCD/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:C,G,T:39:14:0:23:1,37,1:11,1135,12:0.26,129.08,0.00:0.00,37.34,0.00:0.26,91.74,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:24.0,60.3,94.0:0,0,0:0,0,0:12,109,49:137,42,88:0,31,0:NM_006254.3(PRKCD) c.1743+29T>G,NM_006254.3(PRKCD) c.1743+29T>G:0.84,0.84:0.931078,0.931078 3 53223927 rs1075865 C G 362 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.09804,G/0.902;PC=0.036;Gene=PRKCD/NM_006254.3/1;CC=c.1782C>G;ProtCh=p.T594=;VC=Silent;Gene=PRKCD/NM_212539.1/0;CC=c.1782C>G;ProtCh=p.T594=;VC=Silent;Gene=PRKCD/NM_001316327/0;CC=c.1782C>G;ProtCh=p.T594=;VC=Silent;DM=PRKCD/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:105:63:0:0:1,104:12,3145:0.00,361.91:0.00,156.59:0.00,205.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:111.0,51.1:0,0:0,0:32,86:119,59:0,30:NM_006254.3(PRKCD) c.1782C>G (p.(=)),NM_006254.3(PRKCD) c.1782C>G (p.(=)):0.93,0.93:0.933492,0.933492 3 53224002 rs900495 T C 268 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.0595,C/0.9405;PC=0.234;Gene=PRKCD/NM_006254.3/1;CC=c.1857T>C;ProtCh=p.P619=;VC=Silent;Gene=PRKCD/NM_212539.1/0;CC=c.1857T>C;ProtCh=p.P619=;VC=Silent;Gene=PRKCD/NM_001316327/0;CC=c.1857T>C;ProtCh=p.P619=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:71:47:0:0:71:2346:268.37:117.84:150.54:1.00:1.00:1.00:60:58.4:0:0:79:72:36:NM_006254.3(PRKCD) c.1857T>C (p.(=)),NM_006254.3(PRKCD) c.1857T>C (p.(=)):0.94,0.94:0.939259,0.939259 3 53224018 . G . . NT END=53226123;NT GT ./. 3 53226283 . G . . NT END=53259771;NT GT ./. 3 53259948 . C . . NT END=53260771;NT GT ./. 3 53259996 rs3816767 G A 97 nt VT=SNV;PN=A;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.5647,A/0.4353,C/.;Gene=TKT/NM_001135055.2/1;CC=c.1697-49C>T;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.1697-49C>T;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.1721-49C>T;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:74:27:0:0:32,2,40:1029,21,1347:96.67,0.04,0.00:21.78,-0.11,0.00:74.90,0.14,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.9,109.0,2.4:0,0,0:0,0,0:96,68,99:52,55,47:27,37,27:NM_001135055.2(TKT) c.1697-49C>T,-:0.43,-:0.366062,- 3 53260099 rs7647720 A T 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.387,T/0.613;Gene=TKT/NM_001135055.2/1;CC=c.1697-152T>A;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.1697-152T>A;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.1721-152T>A;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:24:0:0:0:14,10:419,313:0.00,29.00:0.00,0.00:0.00,29.00:0.00,1.00:0.00,0.00:0.00,1.00:60,60:16.3,68.5:0,0:0,0:109,124:41,27:24,14:-,NM_001135055.2(TKT) c.1697-152T>A:-,0.58:-,NOT_FOUND 3 53260716 rs2279322 C T 144 nt VT=SNV;PN=A;NN=G;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.5635,T/0.4365;Gene=TKT/NM_001135055.2/1;CC=c.1696+56G>A;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.1696+56G>A;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.1720+56G>A;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:82:68:0:0:37,45:1225,1471:0.00,144.02:0.00,86.00:0.00,58.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,41.4:0,0:0,0:52,47:89,101:22,27:-,NM_001135055.2(TKT) c.1696+56G>A:-,0.43:-,NOT_FOUND 3 53260895 . C . . NT END=53262071;NT GT ./. 3 53261923 rs7609596 A T 59 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.04333,T/0.9567;Gene=TKT/NM_001135055.2/1;CC=c.1573+149T>A;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.1573+149T>A;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.1597+149T>A;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:508:58.83:58.83:0.00:1.00:1.00:0.00:60:29.9:0:0:45:106:18:NM_001135055.2(TKT) c.1573+149T>A,NM_001135055.2(TKT) c.1573+149T>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 53262166 . C . . NT END=53262291;NT GT ./. 3 53262376 . C . . NT END=53263022;NT GT ./. 3 53262867 rs13075304 G A 105 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.04213,A/0.9579;Gene=TKT/NM_001135055.2/1;CC=c.1395+156C>T;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.1395+156C>T;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.1419+156C>T;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transket_pyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:A:29:29:0:0:29:914:105.14:105.14:0.00:1.00:1.00:0.00:60:33.1:0:0:52:99:37:NM_001135055.2(TKT) c.1395+156C>T,NM_001135055.2(TKT) c.1395+156C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 3 53263154 . C . . NT END=53263295;NT GT ./. 3 53263279 rs3736156 A G 156 nt VT=SNV;PN=C;NN=C;SST=Single;DP=119;DB;DBA=NA;PAF=A/0.3994,G/0.6006;Gene=TKT/NM_001135055.2/1;CC=c.1264+17T>C;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.1264+17T>C;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.1288+17T>C;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transket_pyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:119:79:0:0:60,2,57:1703,28,1645:0.00,0.33,156.30:0.00,-0.24,76.32:0.00,0.57,79.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.3,67.5,38.5:0,0,0:0,0,0:49,59,45:94,91,95:29,57,35:-,NM_001135055.2(TKT) c.1264+17T>C:-,0.57:-,0.534061 3 53263453 . C . . NT END=53264472;NT GT ./. 3 53264214 rs11717767 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.77,A/0.23;Gene=TKT/NM_001135055.2/1;CC=c.1107+259C>T;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.1107+259C>T;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.1131+259C>T;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transket_pyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:78:A,G:7:7:0:0:3,4:77,99:7.07,0.00:7.07,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:88.7,35.2:0,0:0,0:25,24:126,126:5,18:NM_001135055.2(TKT) c.1107+259C>T,-:0.3,-:NOT_FOUND,- 3 53264638 . C . . NT END=53265372;NT GT ./. 3 53264841 rs10666288 T TAG 42 idl,nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.04473,TA/.,TAG/0.9553;NP=11;Gene=TKT/NM_001135055.2/1;CC=c.943-205_943-204insCT;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.943-205_943-204insCT;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.967-205_967-204insCT;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transket_pyr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:TAG:12:0:14:0:12:435:42.41:0.00:42.41:1.00:0.00:1.00:70:48.8:2:0:121:29:17:NM_001135055.2(TKT) c.943-205_943-204insCT,NM_001135055.2(TKT) c.943-205_943-204insCT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 53264842 rs55649678 T C 42 idl,nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.04473,A/.,C/0.9553;NP=4;Gene=TKT/NM_001135055.2/1;CC=c.943-205A>G;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.943-205A>G;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.967-205A>G;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transket_pyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:361:41.76:0.00:41.76:1.00:0.00:1.00:60:43.1:12:0:117:33:21:NM_001135055.2(TKT) c.943-205A>G,NM_001135055.2(TKT) c.943-205A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 53265567 . C . . NT END=53267171;NT GT ./. 3 53265581 rs17234092 C T 76 nt VT=SNV;PN=A;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.8738,T/0.1262;Gene=TKT/NM_001135055.2/1;CC=c.749-15G>A;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.749-15G>A;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.773-15G>A;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:28:0:0:46,27:1387,839:0.00,75.90:0.00,21.23:0.00,54.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,41.1:0,0:0,0:89,103:58,47:33,26:-,NM_001135055.2(TKT) c.749-15G>A:-,0.14:-,0.182377 3 53267133 rs6445573 G C 154 nt VT=SNV;PN=C;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.04213,C/0.9579;Gene=TKT/NM_001135055.2/1;CC=c.748+39C>G;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.748+39C>G;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.772+39C>G;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:118:C:43:37:0:0:43:1337:154.09:120.15:33.94:1.00:1.00:1.00:60:52.9:0:0:33:118:19:NM_001135055.2(TKT) c.748+39C>G,NM_001135055.2(TKT) c.748+39C>G:0.97,0.97:0.959403,0.959403 3 53267155 rs2242301 G A 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.5651,A/0.4349;Gene=TKT/NM_001135055.2/1;CC=c.748+17C>T;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.748+17C>T;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.772+17C>T;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:50:0:0:26,33:824,968:77.26,0.00:57.88,0.00:19.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.8,26.2:0,0:0,0:41,42:109,108:24,30:NM_001135055.2(TKT) c.748+17C>T,-:0.43,-:0.367215,- 3 53267291 . C . . NT END=53268998;NT GT ./. 3 53269191 . C . . NT END=53274266;NT GT ./. 3 53269317 rs2035450 T C 68 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.389,C/0.611;Gene=TKT/NM_001135055.2/1;CC=c.438-127A>G;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.438-127A>G;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.462-127A>G;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:0:0:0:23,18:692,571:67.95,0.00:0.00,0.00:67.95,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.5,1.1:0,0:0,0:102,112:49,39:35,32:NM_001135055.2(TKT) c.438-127A>G,-:0.57,-:NOT_FOUND,- 3 53274365 . C . . NT END=53275147;NT GT ./. 3 53274602 rs2306569 T C 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7474,C/0.2526;PC=0.001;Gene=TKT/NM_001135055.2/1;CC=c.340-238A>G;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.340-238A>G;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.340-238A>G;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:0:0:0:4,1:122,34:13.02,0.00:0.00,0.00:13.02,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:32.8,0.0:0,0:0,0:92,144:57,7:14,0:NM_001135055.2(TKT) c.340-238A>G,-:0.31,-:NOT_FOUND,- 3 53274986 rs62255989 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.8836,T/0.1164;Gene=TKT/NM_001135055.2/1;CC=c.339+162G>A;VC=Intron;Gene=TKT/NM_001064.3/0;CC=c.339+162G>A;VC=Intron;Gene=TKT/NM_001258028.1/0;CC=c.339+162G>A;VC=Intron;Gene=TKT/NR_047580.1/0;VC=NonCoding;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N;DM=TKT/Transketolase_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:179:C,T:13:13:0:0:7,6:237,174:0.00,16.33:0.00,16.33:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:14.0,56.8:0,0:0,0:36,55:114,84:16,28:-,NM_001135055.2(TKT) c.339+162G>A:-,0.13:-,NOT_FOUND 3 53275262 . C . . NT END=53276140;NT GT ./. 3 53276259 . C . . NT END=53289851;NT GT ./. 3 53289959 . G . . NT END=53321597;NT GT ./. 3 53305916 rs72042378 TTG T 6 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;PC=0.169;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TTG,T:5:6:0:4:2,3:67,98:0.00,6.35:0.00,4.36:0.00,1.99:0.00,0.73:0.00,0.73:0.00,0.89:60,60:0.0,18.7:0,1:0,0:77,27:38,83:30,6:-,chr3 g.53305917_53305918delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 53321631 rs9628 A C 44 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.6078,C/0.3922;PC=1.000;Gene=DCP1A/NM_001290204.1/0;CC=c.1602T>G;ProtCh=p.V534=;VC=Silent;Gene=DCP1A/NM_001290205.1/1;CC=c.1500T>G;ProtCh=p.V500=;VC=Silent;Gene=DCP1A/NM_001290206.1/0;CC=c.1353T>G;ProtCh=p.V451=;VC=Silent;Gene=DCP1A/NM_001290207.1/0;CC=c.1239T>G;ProtCh=p.V413=;VC=Silent;Gene=DCP1A/NM_018403.6/0;CC=c.1716T>G;ProtCh=p.V572=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:19:0:0:13,13:398,458:0.00,44.18:0.00,16.28:0.00,27.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.8,38.5:0,0:0,0:45,71:105,68:23,20:-,NM_018403.5(DCP1A) c.1716T>G (p.(=)):-,0.35:-,0.42908 3 53321679 . C . . NT END=53322082;NT GT ./. 3 53322302 . C . . NT END=53324814;NT GT ./. 3 53324767 . TAAAAAAA T 10 nt VT=DEL;SST=Single;DP=10;NP=1;PC=0.001;Gene=DCP1A/NM_001290204.1/0;CC=c.1330+52_1330+58delTTTTTTT;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.1228+52_1228+58delTTTTTTT;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.1081+52_1081+58delTTTTTTT;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.967+52_967+58delTTTTTTT;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.1444+52_1444+58delTTTTTTT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:TAAAAAAA,T:10:10:0:4:6,4:198,107:0.00,9.66:0.00,9.77:0.00,-0.11:0.00,0.84:0.00,0.84:0.00,0.60:60,60:28.0,22.5:0,0:0,0:112,15:33,111:17,3:-,NM_018403.5(DCP1A) c.1449+41_1449+47delTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 53324819 rs527572883 ATGGCAC A 106 lc VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2748;PC=1.000;Gene=DCP1A/NM_001290204.1/0;CC=c.1330+1_1330+6delGTGCCA;VC=SpliceSiteDelCDS;Gene=DCP1A/NM_001290205.1/1;CC=c.1228+1_1228+6delGTGCCA;VC=SpliceSiteDelCDS;Gene=DCP1A/NM_001290206.1/0;CC=c.1081+1_1081+6delGTGCCA;VC=SpliceSiteDelCDS;Gene=DCP1A/NM_001290207.1/0;CC=c.967+1_967+6delGTGCCA;VC=SpliceSiteDelCDS;Gene=DCP1A/NM_018403.6/0;CC=c.1444+1_1444+6delGTGCCA;VC=SpliceSiteDelCDS;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:A:31:21:0:31:31:919:106.37:49.18:57.19:1.00:1.00:1.00:60:25.7:0:0:41:108:22:NM_018403.5(DCP1A) c.1439_1444delGTGCCA (p.Ser480_Ala481del),NM_018403.5(DCP1A) c.1439_1444delGTGCCA (p.Ser480_Ala481del):0.99,0.99:0.994848,0.994848 3 53324887 . C . . NT END=53326098;NT GT ./. 3 53324915 rs3732834 A G 43 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.3263,A/0.6737,T/.;PC=0.001;Gene=DCP1A/NM_001290204.1/0;CC=c.1270-29T>C;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.1168-29T>C;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.1021-29T>C;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.907-29T>C;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.1384-29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:17:0:0:14,15:467,444:0.00,42.77:0.00,13.22:0.00,29.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,38.2:0,0:0,0:102,112:44,39:9,19:-,NM_018403.5(DCP1A) c.1384-29T>C:-,0.64:-,0.641685 3 53325905 rs13063111 C A 81 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3387,A/0.6613;Gene=DCP1A/NM_001290204.1/0;CC=c.1269+194G>T;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.1167+194G>T;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.1020+194G>T;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.906+194G>T;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.1383+194G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:A:22:22:0:0:22:701:80.55:80.55:0.00:1.00:1.00:0.00:60:39.5:0:0:37:113:29:NM_018403.5(DCP1A) c.1383+194G>T,NM_018403.5(DCP1A) c.1383+194G>T:0.67,0.67:NOT_FOUND,NOT_FOUND 3 53326858 . C . . NT END=53338206;NT GT ./. 3 53338321 . C . . NT END=53346270;NT GT ./. 3 53346142 . GCT G 40 nt VT=DEL;SST=Single;DP=40;NP=1074;PC=0.001;Gene=DCP1A/NM_001290204.1/0;CC=c.510+127_510+128delAG;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.294+127_294+128delAG;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.147+127_147+128delAG;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.147+127_147+128delAG;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.510+127_510+128delAG;VC=Intron;DM=DCP1A/DCP1;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCT,G:40:40:0:14:26,14:746,441:0.00,39.55:0.00,36.57:0.00,2.98:0.00,1.00:0.00,1.00:0.00,0.75:60,60:6.3,6.4:0,0:0,0:58,49:92,101:42,28:-,NM_018403.5(DCP1A) c.510+127_510+128delAG:-,0.3:-,NOT_FOUND 3 53346410 . C . . NT END=53353433;NT GT ./. 3 53346525 . CT C 9 idl,rn VT=DEL;SST=Single;DP=44;PC=0.011;Gene=DCP1A/NM_001290204.1/0;CC=c.372-117delA;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.156-117delA;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.9-117delA;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.9-117delA;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.372-117delA;VC=Intron;DM=DCP1A/DCP1;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:CT,T,I,C:40:7:3:8:33,1,2,4:1079,10,96,219:0.00,-0.13,4.01,9.48:0.00,-0.05,-0.09,-0.19:0.00,-0.08,4.10,9.67:0.00,0.00,0.00,0.57:0.00,0.00,0.00,0.45:0.00,0.00,0.00,0.93:60,60,60,60:18.6,153.0,0.0,46.0:0,0,1,3:0,0,0,0:135,99,117,79:16,49,34,72:9,0,1,13:-,NM_018403.5(DCP1A) c.372-117delA:-,NOT_FOUND:-,NOT_FOUND 3 53353501 . C . . NT END=53376170;NT GT ./. 3 53375890 rs12491493 T G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3395,G/0.6605;Gene=DCP1A/NM_001290204.1/0;CC=c.304+281A>C;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.33+281A>C;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.-60+3039A>C;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.-60+3039A>C;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.304+281A>C;VC=Intron;DM=DCP1A/DCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:104:12.27:12.27:0.00:1.00:1.00:0.00:60:39.2:0:0:82:68:29:NM_018403.5(DCP1A) c.304+281A>C,NM_018403.5(DCP1A) c.304+281A>C:0.65,0.65:NOT_FOUND,NOT_FOUND 3 53376081 rs13077680 G C 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9507,C/0.04932;PC=0.001;Gene=DCP1A/NM_001290204.1/0;CC=c.304+90C>G;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.33+90C>G;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.-60+2848C>G;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.-60+2848C>G;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.304+90C>G;VC=Intron;DM=DCP1A/DCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:22:19:0:0:11,11:334,353:32.02,0.00:24.40,0.00:7.61,0.00:1.00,0.00:1.00,0.00:0.96,0.00:60,60:34.3,36.7:0,0:0,0:24,45:126,105:23,15:NM_018403.5(DCP1A) c.304+90C>G,-:0.08,-:NOT_FOUND,- 3 53376119 rs111610660 T C 51 nt VT=SNV;PN=C;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.995,C/0.004992;Gene=DCP1A/NM_001290204.1/0;CC=c.304+52A>G;VC=Intron;Gene=DCP1A/NM_001290205.1/1;CC=c.33+52A>G;VC=Intron;Gene=DCP1A/NM_001290206.1/0;CC=c.-60+2810A>G;VC=Intron;Gene=DCP1A/NM_001290207.1/0;CC=c.-60+2810A>G;VC=Intron;Gene=DCP1A/NM_018403.6/0;CC=c.304+52A>G;VC=Intron;DM=DCP1A/DCP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:26:0:0:17,14:517,476:50.51,0.00:40.04,0.00:10.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.3,20.4:0,0:0,0:61,45:90,104:37,15:NM_018403.5(DCP1A) c.304+52A>G,-:0.01,-:NOT_FOUND,- 3 53376299 . C . . NT END=53378928;NT GT ./. 3 53378970 . C . . NT END=53381409;NT GT ./. 3 53381545 . C . . NT END=53529193;NT GT ./. 3 53529013 rs312479 T A 61 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.03694,A/0.9631;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:45:A:19:19:0:0:19:526:61.43:61.43:0.00:1.00:1.00:0.00:60:80.2:0:0:65:70:32:NM_000720.2(CACNA1D) c.-163-u18T>A,NM_000720.2(CACNA1D) c.-163-u18T>A:0.93,0.93:NOT_FOUND,NOT_FOUND 3 53529059 . A C 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=21;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:A,C,G:21:21:0:0:14,6,1:282,104,5:0.00,7.96,-0.19:0.00,7.96,-0.19:0.00,0.00,0.00:0.00,0.93,0.00:0.00,0.93,0.00:0.00,0.00,0.00:60,60,60:113.8,103.0,81.0:0,1,0:0,0,0:50,109,72:79,34,67:46,17,0:-,NM_000720.2(CACNA1D) c.-135A>C:-,NOT_FOUND:-,NOT_FOUND 3 53529140 rs312480 T C 190 nt VT=SNV;PN=C;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.1406,C/0.8594;PC=0.434;Gene=CACNA1D/NM_000720.3/1;CC=c.-54T>C;VC=5UTR;Gene=CACNA1D/NM_001128839.2/0;CC=c.-54T>C;VC=5UTR;Gene=CACNA1D/NM_001128840.2/0;CC=c.-54T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C:52:41:0:0:52:1656:190.36:119.90:70.46:1.00:1.00:1.00:60:52.0:0:0:29:120:18:NM_000720.2(CACNA1D) c.-54T>C,NM_000720.2(CACNA1D) c.-54T>C:0.87,0.87:NOT_FOUND,NOT_FOUND 3 53529261 . G . . NT END=53531178;NT GT ./. 3 53531489 . G . . NT END=53535641;NT GT ./. 3 53535748 . G . . NT END=53684805;NT GT ./. 3 53684946 . G . . NT END=53694159;NT GT ./. 3 53685003 rs55873110 G A 72 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.988,A/0.01198,T/.;PC=0.011;Gene=CACNA1D/NM_000720.3/1;CC=c.623+58G>A;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.623+58G>A;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.623+58G>A;VC=Intron;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:14:0:0:22,15:725,485:72.14,0.00:25.80,0.00:46.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.3,19.2:0,0:0,0:108,98:38,53:15,29:NM_000720.2(CACNA1D) c.623+58G>A,-:0.02,-:NOT_FOUND,- 3 53685039 rs2276836 T C 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6643,C/0.3357;Gene=CACNA1D/NM_000720.3/1;CC=c.623+94T>C;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.623+94T>C;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.623+94T>C;VC=Intron;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:2:0:0:12,10:369,319:36.05,0.00:-0.67,0.00:36.72,0.00:1.00,0.00:0.83,0.00:1.00,0.00:60,60:62.5,15.5:0,0:0,0:121,129:29,22:20,12:NM_000720.2(CACNA1D) c.623+94T>C,-:0.31,-:NOT_FOUND,- 3 53694303 . G . . NT END=53699686;NT GT ./. 3 53699840 . G . . NT END=53700365;NT GT ./. 3 53700550 rs2250736 T C 76 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.2935,C/0.7065;PC=0.001;Gene=CACNA1D/NM_000720.3/1;CC=c.1104T>C;ProtCh=p.D368=;VC=Silent;Gene=CACNA1D/NM_001128839.2/0;CC=c.1104T>C;ProtCh=p.D368=;VC=Silent;Gene=CACNA1D/NM_001128840.2/0;CC=c.1104T>C;ProtCh=p.D368=;VC=Silent;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:60:15:0:0:28,32:808,1059:76.08,0.00:7.68,0.00:68.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.5,6.3:0,0:0,0:103,104:47,40:23,28:NM_000720.2(CACNA1D) c.1104T>C (p.(=)),-:0.66,-:0.64747,- 3 53700563 . G . . NT END=53707049;NT GT ./. 3 53701862 . GTATGCA G 6 nt VT=DEL;SST=Single;DP=4;Gene=CACNA1D/NM_000720.3/1;CC=c.1116+1302_1116+1307delATGCAT;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.1116+1302_1116+1307delATGCAT;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.1116+1302_1116+1307delATGCAT;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GTATGCA,G:4:3:0:2:2,2:69,66:0.00,6.35:0.00,3.33:0.00,3.02:0.00,0.51:0.00,0.89:0.00,0.51:60,70:0.0,16.5:0,0:0,0:111,32:38,58:11,1:-,NM_000720.2(CACNA1D) c.1116+1301_1116+1306delTATGCA:-,NOT_FOUND:-,NOT_FOUND 3 53707154 . G . . NT END=53707739;NT GT ./. 3 53707844 . G . . NT END=53736667;NT GT ./. 3 53736838 . G . . NT END=53752327;NT GT ./. 3 53752416 . G . . NT END=53752708;NT GT ./. 3 53752769 . G . . NT END=53753781;NT GT ./. 3 53753809 . G . . NT END=53756340;NT GT ./. 3 53756502 . G . . NT END=53757460;NT GT ./. 3 53757159 rs898409 A C 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;Gene=CACNA1D/NM_000720.3/1;CC=c.1727-302A>C;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.1667-302A>C;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.1667-302A>C;VC=Intron;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,C:7:7:0:0:4,3:135,101:0.00,9.46:0.00,9.46:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:0.0,51.0:0,0:0,0:44,30:105,118:29,16:-,NM_000720.2(CACNA1D) c.1727-302A>C:-,0.92:-,NOT_FOUND 3 53757687 . G . . NT END=53757818;NT GT ./. 3 53758027 . G . . NT END=53760905;NT GT ./. 3 53761027 . G . . NT END=53764468;NT GT ./. 3 53764272 rs139366806 CTTTTG C 14 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=149;PC=0.001;Gene=CACNA1D/NM_000720.3/1;CC=c.2282-168_2282-164delTGTTT;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.2222-168_2222-164delTGTTT;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.2222-168_2222-164delTGTTT;VC=Intron;DM=CACNA1D/Ion_trans;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:CTTTTG,C:8:8:0:5:3,5:53,138:0.00,13.94:0.00,13.94:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:16.0,15.8:0,0:0,0:72,79:78,71:31,21:-,NM_000720.2(CACNA1D) c.2282-196_2282-192delTTTTG:-,NOT_FOUND:-,NOT_FOUND 3 53764584 . G . . NT END=53765103;NT GT ./. 3 53765174 . G . . NT END=53766042;NT GT ./. 3 53766026 rs2612033 T C 40 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.08906,C/0.9109;Gene=CACNA1D/NM_000720.3/1;CC=c.2467-17T>C;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.2407-17T>C;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.2407-17T>C;VC=Intron;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:20:0:0:13,16:429,549:40.44,0.00:24.29,0.00:16.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.0,2.9:0,0:0,0:25,29:104,111:20,19:NM_000720.2(CACNA1D) c.2467-17T>C,-:0.92,-:0.867061,- 3 53766110 . G . . NT END=53766841;NT GT ./. 3 53766990 . G . . NT END=53769400;NT GT ./. 3 53769531 . G . . NT END=53774306;NT GT ./. 3 53774367 . G . . NT END=53777037;NT GT ./. 3 53776857 rs2577329 C G 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1967,G/0.8033;PC=0.003;Gene=CACNA1D/NM_000720.3/1;CC=c.2872-181C>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.2812-181C>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.2812-181C>G;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:296:33.89:33.89:0.00:1.00:1.00:0.00:60:87.2:0:0:29:122:21:NM_000720.2(CACNA1D) c.2872-181C>G,NM_000720.2(CACNA1D) c.2872-181C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 53776872 rs2577328 T G 43 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.1969,G/0.8031;PC=0.029;Gene=CACNA1D/NM_000720.3/1;CC=c.2872-166T>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.2812-166T>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.2812-166T>G;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:G:12:12:0:0:12:370:42.66:42.66:0.00:1.00:1.00:0.00:60:85.8:0:0:39:110:22:NM_000720.2(CACNA1D) c.2872-166T>G,NM_000720.2(CACNA1D) c.2872-166T>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 53776995 rs2612026 T C 130 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.1971,C/0.8029;PC=0.002;Gene=CACNA1D/NM_000720.3/1;CC=c.2872-43T>C;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.2812-43T>C;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.2812-43T>C;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:31:0:0:34:1141:130.30:108.67:21.62:1.00:1.00:1.00:60:50.3:0:0:61:88:38:NM_000720.2(CACNA1D) c.2872-43T>C,NM_000720.2(CACNA1D) c.2872-43T>C:0.81,0.81:0.753037,0.753037 3 53777145 . G . . NT END=53778766;NT GT ./. 3 53777176 rs2680648 T C 46 nt VT=SNV;PN=G;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.8179,C/0.1821;Gene=CACNA1D/NM_000720.3/1;CC=c.2978+32T>C;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.2918+32T>C;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.2918+32T>C;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:6:0:0:16,17:486,535:46.27,0.00:9.02,0.00:37.25,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:39.1,8.5:0,0:0,0:101,98:39,50:30,38:NM_000720.2(CACNA1D) c.2978+32T>C,-:0.23,-:0.18676,- 3 53778620 rs28365115 C G 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.85,G/0.15;Gene=CACNA1D/NM_000720.3/1;CC=c.2979-147C>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.2919-147C>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.2919-147C>G;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:C,G:11:11:0:0:5,6:172,199:0.00,19.47:0.00,19.47:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:2.6,43.7:0,0:0,0:37,18:114,132:27,12:-,NM_000720.2(CACNA1D) c.2979-147C>G:-,0.17:-,NOT_FOUND 3 53778855 . G . . NT END=53779650;NT GT ./. 3 53778875 rs2253795 G T 37 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.8574,A/.,T/0.1426;Gene=CACNA1D/NM_000720.3/1;CC=c.3066+21G>T;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3006+21G>T;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.3006+21G>T;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:21:11:0:0:10,11:326,377:0.00,36.64:0.00,13.48:0.00,23.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,44.7:0,0:0,0:84,114:49,25:32,26:-,NM_000720.2(CACNA1D) c.3066+21G>T:-,0.17:-,0.183069 3 53779580 rs2612024 G C 175 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.1977,C/0.8023;Gene=CACNA1D/NM_000720.3/1;CC=c.3067-71G>C;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3007-71G>C;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.3007-71G>C;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:45:0:0:46:1529:174.78:149.69:25.09:1.00:1.00:1.00:60:42.6:0:0:50:101:34:NM_000720.2(CACNA1D) c.3067-71G>C,NM_000720.2(CACNA1D) c.3067-71G>C:0.81,0.81:NOT_FOUND,NOT_FOUND 3 53779759 . G . . NT END=53779849;NT GT ./. 3 53779825 rs3821860 A G 62 nt VT=SNV;PN=T;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.7678,G/0.2322;PC=0.002;Gene=CACNA1D/NM_000720.3/1;CC=c.3175-25A>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3115-25A>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.3115-25A>G;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:54:27:0:0:34,20:1019,674:0.00,61.51:0.00,26.94:0.00,34.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.4,34.5:0,0:0,0:93,81:57,70:40,41:-,NM_000720.2(CACNA1D) c.3175-25A>G:-,0.22:-,0.313855 3 53779903 . G . . NT END=53781328;NT GT ./. 3 53780081 rs2680671 C T 8 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4816,T/0.5184;Gene=CACNA1D/NM_000720.3/1;CC=c.3227+179C>T;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3167+179C>T;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.3167+179C>T;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T:10:0:0:0:7,3:201,88:0.00,7.58:0.00,0.00:0.00,7.58:0.00,0.62:0.00,0.00:0.00,0.62:60,60:36.4,109.0:0,0:0,0:127,82:22,69:8,33:-,NM_000720.2(CACNA1D) c.3227+179C>T:-,0.48:-,NOT_FOUND 3 53780082 rs2577326 A G 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2013,G/0.7987;Gene=CACNA1D/NM_000720.3/1;CC=c.3227+180A>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3167+180A>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.3167+180A>G;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:295:34.22:0.00:34.22:1.00:0.00:1.00:60:58.2:0:0:119:31:23:NM_000720.2(CACNA1D) c.3227+180A>G,NM_000720.2(CACNA1D) c.3227+180A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 53781476 . G . . NT END=53783294;NT GT ./. 3 53781737 rs2016271 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1909,G/0.8091;Gene=CACNA1D/NM_000720.3/1;CC=c.3374+262A>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3314+262A>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.3314+262A>G;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/Ion_trans GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:0:0:0:6:203:23.16:0.00:23.16:1.00:0.00:1.00:60:47.5:0:0:93:56:36:NM_000720.2(CACNA1D) c.3374+262A>G,NM_000720.2(CACNA1D) c.3374+262A>G:0.82,0.82:NOT_FOUND,NOT_FOUND 3 53783497 . G . . NT END=53785775;NT GT ./. 3 53785540 rs2015263 C T 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.07648,T/0.9235;Gene=CACNA1D/NM_000720.3/1;CC=c.3577-236C>T;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3517-236C>T;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.3517-236C>T;VC=Intron;DM=CACNA1D/GPHH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:305:35.27:35.27:0.00:1.00:1.00:0.00:60:55.9:0:0:54:91:44:NM_000720.2(CACNA1D) c.3577-236C>T,NM_000720.2(CACNA1D) c.3577-236C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 53785935 . G . . NT END=53787598;NT GT ./. 3 53787710 . G . . NT END=53796024;NT GT ./. 3 53796109 . G . . NT END=53803999;NT GT ./. 3 53804045 . G . . NT END=53804450;NT GT ./. 3 53804580 . G . . NT END=53806859;NT GT ./. 3 53804801 rs2278518 C T 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5234,T/0.4766;Gene=CACNA1D/NM_000720.3/1;CC=c.4104+222C>T;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.3999+222C>T;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4044+222C>T;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/CAC1F_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:202:23.52:0.00:23.52:1.00:0.00:1.00:60:45.1:0:0:133:18:16:NM_000720.2(CACNA1D) c.4104+222C>T,NM_000720.2(CACNA1D) c.4104+222C>T:0.53,0.53:NOT_FOUND,NOT_FOUND 3 53806803 rs2278517 G C 162 nt VT=SNV;PN=G;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.4541,C/0.5459;Gene=CACNA1D/NM_000720.3/1;CC=c.4105-57G>C;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4000-57G>C;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4045-57G>C;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/CAC1F_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:116:C:42:37:0:0:42:1420:162.03:114.47:47.56:1.00:1.00:1.00:60:56.3:0:0:57:93:24:NM_000720.2(CACNA1D) c.4105-57G>C,NM_000720.2(CACNA1D) c.4105-57G>C:0.59,0.59:NOT_FOUND,NOT_FOUND 3 53806817 rs35146621 G A 80 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.8458,A/0.1542;PC=0.002;Gene=CACNA1D/NM_000720.3/1;CC=c.4105-43G>A;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4000-43G>A;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4045-43G>A;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/CAC1F_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:41:0:0:26,20:809,650:79.54,0.00:56.01,0.00:23.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.9,36.3:0,0:0,0:71,41:79,106:23,24:NM_000720.2(CACNA1D) c.4105-43G>A,-:0.2,-:0.203752,- 3 53806926 . G . . NT END=53808613;NT GT ./. 3 53807148 rs2278516 C T 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5088,T/0.4912;Gene=CACNA1D/NM_000720.3/1;CC=c.4170+223C>T;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4065+223C>T;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4110+223C>T;VC=Intron;DM=CACNA1D/Ion_trans;DM=CACNA1D/CAC1F_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G,T:8:0:0:0:1,7:10,184:0.63,21.30:0.00,0.00:0.63,21.30:0.00,1.00:0.00,0.00:0.00,1.00:60,60:53.0,37.7:0,0:0,0:126,125:-15,26:0,20:NM_000720.2(CACNA1D) c.4170+223C>T,NM_000720.2(CACNA1D) c.4170+223C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 3 53808706 . G . . NT END=53809912;NT GT ./. 3 53810073 . G . . NT END=53810629;NT GT ./. 3 53810758 . G . . NT END=53810886;NT GT ./. 3 53810984 . G . . NT END=53814052;NT GT ./. 3 53814156 . G . . NT END=53815592;NT GT ./. 3 53814197 rs1829423 G A 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4497,A/0.5503;Gene=CACNA1D/NM_000720.3/1;CC=c.4750+42G>A;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4645+42G>A;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4690+42G>A;VC=Intron;DM=CACNA1D/CAC1F_C;DM=CACNA1D/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A:21:7:0:0:21:672:77.19:17.35:59.84:1.00:1.00:1.00:60:39.7:0:0:99:50:29:NM_000720.2(CACNA1D) c.4750+42G>A,NM_000720.2(CACNA1D) c.4750+42G>A:0.6,0.6:0.669383,0.669383 3 53814308 rs3733070 C T 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8027,T/0.1973;Gene=CACNA1D/NM_000720.3/1;CC=c.4750+153C>T;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4645+153C>T;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4690+153C>T;VC=Intron;DM=CACNA1D/CAC1F_C;DM=CACNA1D/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:6:0:0:0:1,5:30,169:0.00,18.11:0.00,0.00:0.00,18.11:0.00,0.99:0.00,0.00:0.00,0.99:60,60:0.0,62.8:0,0:0,0:97,139:54,12:0,11:-,NM_000720.2(CACNA1D) c.4750+153C>T:-,0.22:-,NOT_FOUND 3 53815695 . G . . NT END=53820848;NT GT ./. 3 53815865 rs11707420 G A 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.4834,A/0.5166;Gene=CACNA1D/NM_000720.3/1;CC=c.4852+171G>A;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4747+171G>A;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4792+171G>A;VC=Intron;DM=CACNA1D/CAC1F_C;DM=CACNA1D/Ca_chan_IQ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:0:0:0:12:358:41.45:0.00:41.45:1.00:0.00:1.00:60:43.7:0:0:93:57:41:NM_000720.2(CACNA1D) c.4852+171G>A,NM_000720.2(CACNA1D) c.4852+171G>A:0.56,0.56:NOT_FOUND,NOT_FOUND 3 53820980 . G . . NT END=53834275;NT GT ./. 3 53821207 rs2289212 C T 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5411,T/0.4589;Gene=CACNA1D/NM_000720.3/1;CC=c.4983+228C>T;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4878+228C>T;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4923+228C>T;VC=Intron;DM=CACNA1D/CAC1F_C;DM=CACNA1D/CAC1F_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:149:C,T:11:0:0:0:6,5:189,145:0.00,13.58:0.00,0.00:0.00,13.58:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,80.0:0,0:0,0:121,34:29,115:9,17:-,NM_000720.2(CACNA1D) c.4983+228C>T:-,0.46:-,NOT_FOUND 3 53821261 rs2289211 T G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.5134,G/0.4866;Gene=CACNA1D/NM_000720.3/1;CC=c.4983+282T>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4878+282T>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4923+282T>G;VC=Intron;DM=CACNA1D/CAC1F_C;DM=CACNA1D/CAC1F_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:G,T:8:1:0:0:7,1:239,33:25.93,0.00:3.62,0.00:22.31,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:66.6,0.0:0,0:0,0:73,127:76,23:32,0:NM_000720.2(CACNA1D) c.4983+282T>G,-:0.51,-:NOT_FOUND,- 3 53821482 rs59171678 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4481,G/0.5519;DB;DBA=NA;PAF=NA;NP=16;PC=0.042;Gene=CACNA1D/NM_000720.3/1;CC=c.4983+503A>G;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.4878+503A>G;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.4923+503A>G;VC=Intron;DM=CACNA1D/CAC1F_C;DM=CACNA1D/CAC1F_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:6:2:0:0:3,3:101,104:0.00,10.03:0.00,-0.30:0.00,10.33:0.00,0.73:0.00,0.79:0.00,0.73:60,60:11.3,45.0:0,0:0,0:45,73:79,77:0,30:-,NM_000720.2(CACNA1D) c.4983+503A>G:-,NOT_FOUND:-,NOT_FOUND 3 53834393 . G . . NT END=53835084;NT GT ./. 3 53835453 . G . . NT END=53836173;NT GT ./. 3 53836201 . G . . NT END=53837449;NT GT ./. 3 53837600 . G . . NT END=53839009;NT GT ./. 3 53839174 . G . . NT END=53842675;NT GT ./. 3 53842440 rs373675018 CA C 7 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=CACNA1D/NM_000720.3/1;CC=c.5810-221delA;VC=Intron;Gene=CACNA1D/NM_001128839.2/0;CC=c.5678-221delA;VC=Intron;Gene=CACNA1D/NM_001128840.2/0;CC=c.5750-221delA;VC=Intron;DM=CACNA1D/CAC1F_C;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:CA,C:10:11:0:5:7,3:237,144:0.00,7.25:0.00,5.28:0.00,1.98:0.00,0.94:0.00,0.93:0.00,0.50:60,60:18.1,42.0:0,2:0,0:60,75:88,75:37,31:-,NM_000720.2(CACNA1D) c.5810-235delA:-,NOT_FOUND:-,NOT_FOUND 3 53842798 . G . . NT END=53844004;NT GT ./. 3 53844326 . G . . NT END=53845139;NT GT ./. 3 53845434 . C . . NT END=53851803;NT GT ./. 3 53852223 . C . . NT END=53852964;NT GT ./. 3 53853068 . C . . NT END=53853558;NT GT ./. 3 53853702 . C . . NT END=53854500;NT GT ./. 3 53854636 . C . . NT END=53855673;NT GT ./. 3 53855804 . C . . NT END=53856517;NT GT ./. 3 53856050 rs6445606 C T 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1402,T/0.8598;Gene=CHDH/NM_018397.4/1;CC=c.856-247G>A;VC=Intron;DM=CHDH/GMC_oxred_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:51:C,T:7:0:0:0:2,5:57,171:0.00,17.67:0.00,0.00:0.00,17.67:0.00,0.98:0.00,0.00:0.00,0.98:60,60:29.5,36.8:0,0:0,0:98,101:51,50:49,42:-,NM_018397.4(CHDH) c.856-247G>A:-,0.83:-,NOT_FOUND 3 53856653 rs2241808 C T 178 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=C/0.5573,T/0.4427;Gene=CHDH/NM_018397.4/1;CC=c.720G>A;ProtCh=p.A240=;VC=Silent;DM=CHDH/GMC_oxred_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:122:85:0:0:67,55:2035,1880:0.00,177.82:0.00,90.48:0.00,87.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.9,40.6:0,0:0,0:73,75:71,65:33,27:-,NM_018397.4(CHDH) c.720G>A (p.(=)):-,0.44:-,0.438413 3 53856670 . C . . NT END=53857332;NT GT ./. 3 53857158 rs2241807 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5775,T/0.4225;Gene=CHDH/NM_018397.4/1;CC=c.703+175G>A;VC=Intron;DM=CHDH/GMC_oxred_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:C,T:7:6:0:0:3,4:84,107:0.00,10.51:0.00,9.20:0.00,1.31:0.00,0.90:0.00,0.99:0.00,0.71:60,60:23.7,41.2:0,0:0,0:16,52:134,99:7,26:-,NM_018397.4(CHDH) c.703+175G>A:-,0.43:-,NOT_FOUND 3 53857676 rs17053532 C T 203 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=150;DB;DBA=NA;PAF=C/0.9415,T/0.05851;PC=1.000;Gene=CHDH/NM_018397.4/1;CC=c.360G>A;ProtCh=p.L120=;VC=Silent;DM=CHDH/GMC_oxred_N;DM=CHDH/GMC_oxred_N;DM=CHDH/GMC_oxred_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:150:100:0:0:2,78,70:38,2515,2142:0.97,0.00,203.11:1.20,0.00,127.40:-0.23,0.00,75.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:112.5,19.2,40.1:0,0,0:0,0,0:105,78,93:40,71,57:31,49,41:-,NM_018397.4(CHDH) c.360G>A (p.(=)):-,0.09:-,0.091877 3 53857803 rs12676 A C 337 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=224;DB;DBA=NA;PAF=A/0.1342,C/0.8658;Gene=CHDH/NM_018397.4/1;CC=c.233T>G;ProtCh=p.L78R;VC=Missense;DM=CHDH/GMC_oxred_N;DM=CHDH/GMC_oxred_N;DM=CHDH/GMC_oxred_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:224:154:0:0:110,112,2:3528,3512,31:0.00,337.43,0.25:0.00,192.46,-0.22:0.00,144.97,0.47:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.9,40.0,94.0:0,0,0:0,0,0:52,83,66:92,64,84:36,35,27:-,NM_018397.4(CHDH) c.233T>G (p.Leu78Arg):-,0.84:-,0.772165 3 53858036 . G . . NT END=53880615;NT GT ./. 3 53858164 rs2276838 C T 32 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.5777,T/0.4223;Gene=CHDH/NM_018397.4/1;CC=c.-59-70G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:0:0:0:13,11:359,337:0.00,31.75:0.00,0.00:0.00,31.75:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.5,47.1:0,0:0,0:118,67:32,82:20,33:-,NM_018397.4(CHDH) c.-59-70G>A:-,0.43:-,NOT_FOUND 3 53880676 . G . . NT END=53882690;NT GT ./. 3 53880789 rs2232332 A G 132 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.05811,G/0.9419;PC=0.003;Gene=IL17RB/NM_018725.3/1;CC=c.60+114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:3:0:0:37:1147:132.21:5.11:127.10:1.00:1.00:1.00:60:43.8:0:0:81:66:30:NM_018725.3(IL17RB) c.60+114A>G,NM_018725.3(IL17RB) c.60+114A>G:0.95,0.95:NOT_FOUND,NOT_FOUND 3 53882661 rs2232333 A G 56 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.8844,G/0.1156;Gene=IL17RB/NM_018725.3/1;CC=c.61-30A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:31:0:0:16,18:524,580:0.00,56.34:0.00,39.76:0.00,16.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.9,45.8:0,0:0,0:44,37:93,93:40,25:-,NM_018725.3(IL17RB) c.61-30A>G:-,0.15:-,0.231124 3 53882663 rs1025690 G A 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.1757,A/0.8243;PC=0.002;Gene=IL17RB/NM_018725.3/1;CC=c.61-28G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:31:0:0:16,18:540,557:51.48,0.00:31.69,0.00:19.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.1,43.8:0,0:0,0:71,39:68,98:41,25:NM_018725.3(IL17RB) c.61-28G>A,-:0.8,-:0.743272,- 3 53882673 rs5849009 G GT 133 rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.05851,GT/0.9415;DB;DBA=NA;PAF=G/0.05851,GT/0.9415,GTT/.,GTTT/.;NP=3261;PC=0.505;Gene=IL17RB/NM_018725.3/1;CC=c.61-12dupT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:GT:37:31:37:0:37:1150:132.62:81.02:51.60:1.00:1.00:1.00:60:36.8:0:0:40:90:26:NM_018725.3(IL17RB) c.61-18_61-17insT,NM_018725.3(IL17RB) c.61-18_61-17insT:0.95,0.95:NOT_FOUND,NOT_FOUND 3 53882716 . G . . NT END=53883681;NT GT ./. 3 53882903 rs2276839 G C 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.8315,C/0.1685;PC=0.003;Gene=IL17RB/NM_018725.3/1;CC=c.85+188G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:C,G:11:0:0:0:8,3:275,98:28.52,0.00:0.00,0.00:28.52,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.4,0.0:0,0:0,0:122,36:29,113:9,33:NM_018725.3(IL17RB) c.85+188G>C,-:0.19,-:NOT_FOUND,- 3 53883546 rs5849010 C CA 83 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.03734,A/0.0009984;DB;DBA=NA;PAF=C/0.03734,CA/0.9617;NP=826;PC=0.018;Gene=IL17RB/NM_018725.3/1;CC=c.86-135_86-134insA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:CA:23:21:23:0:23:725:83.47:74.52:8.94:1.00:1.00:1.00:60:5.6:0:0:34:117:27:NM_018725.3(IL17RB) c.86-136_86-135insA,NM_018725.3(IL17RB) c.86-136_86-135insA:0.99,0.99:NOT_FOUND,NOT_FOUND 3 53883558 rs71074937 T TA 71 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1100;Gene=IL17RB/NM_018725.3/1;CC=c.86-114_86-113insA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:T,TA,D:24:21:21:1:2,21,1:65,640,30:0.00,70.98,2.07:0.00,62.08,-0.04:0.00,8.90,2.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:4.5,5.7,0.0:0,0,0:0,0,0:73,47,23:77,104,124:56,27,0:-,NM_018725.3(IL17RB) c.86-124_86-123insA:-,NOT_FOUND:-,NOT_FOUND 3 53883722 rs1025689 C G 92 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.5699,A/.,G/0.4301,T/.;PC=0.752;Gene=IL17RB/NM_018725.3/1;CC=c.126C>G;ProtCh=p.P42=;VC=Silent;DM=IL17RB/IL17R_fnIII_D1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:85:61:0:0:51,34:1573,1009:0.00,92.31:0.00,47.67:0.00,44.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.5,35.5:0,0:0,0:95,65:54,82:27,33:-,NM_018725.3(IL17RB) c.126C>G (p.(=)):-,0.46:-,0.476396 3 53883823 . G . . NT END=53886025;NT GT ./. 3 53883910 rs4687751 C T 51 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.4876,T/0.5124;Gene=IL17RB/NM_018725.3/1;CC=c.226+88C>T;VC=Intron;DM=IL17RB/IL17R_fnIII_D1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:10:0:0:17,17:479,536:0.00,51.49:0.00,9.93:0.00,41.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,44.1:0,0:0,0:120,96:30,49:17,26:-,NM_018725.3(IL17RB) c.226+88C>T:-,0.53:-,NOT_FOUND 3 53885792 rs3774619 T G 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.4561,G/0.5439;Gene=IL17RB/NM_018725.3/1;CC=c.227-234T>G;VC=Intron;DM=IL17RB/IL17R_fnIII_D1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:G,T:11:11:0:0:6,5:160,157:15.46,0.00:15.46,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:68.5,0.0:0,0:0,0:39,16:111,134:22,14:NM_018725.3(IL17RB) c.227-234T>G,-:0.57,-:NOT_FOUND,- 3 53885799 rs3774620 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.5966,A/0.4034;Gene=IL17RB/NM_018725.3/1;CC=c.227-227G>A;VC=Intron;DM=IL17RB/IL17R_fnIII_D1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,G:11:11:0:0:5,6:167,188:15.79,0.00:15.79,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:76.0,0.0:0,0:0,0:34,16:117,133:25,8:NM_018725.3(IL17RB) c.227-227G>A,-:0.44,-:NOT_FOUND,- 3 53886154 . G . . NT END=53886897;NT GT ./. 3 53886633 rs3733073 T C 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2823,C/0.7177;PC=0.368;Gene=IL17RB/NM_018725.3/1;CC=c.355-265T>C;VC=Intron;DM=IL17RB/IL17R_fnIII_D1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:4:3:0:0:3,1:92,33:9.65,0.00:6.70,0.00:2.95,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:30.7,28.0:0,0:0,0:130,25:21,126:17,0:NM_018725.3(IL17RB) c.355-265T>C,-:0.68,-:NOT_FOUND,- 3 53886912 rs3733075 C T 68 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.5707,T/0.4293;PC=0.021;Gene=IL17RB/NM_018725.3/1;CC=c.369C>T;ProtCh=p.Y123=;VC=Silent;DM=IL17RB/IL17R_fnIII_D1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:47:37:0:0:24,1,22:788,12,709:0.00,0.06,67.58:0.00,-0.15,40.21:0.00,0.21,27.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.5,116.0,36.0:0,0,0:0,0,0:64,114,62:86,37,86:36,0,24:-,NM_018725.3(IL17RB) c.369C>T (p.(=)):-,0.44:-,0.354298 3 53887025 . G . . NT END=53889320;NT GT ./. 3 53889143 . CA C 14 rn VT=DEL;SST=Single;DP=7;NP=1;PC=0.376;Gene=IL17RB/NM_018725.3/1;CC=c.482-153delA;VC=Intron;DM=IL17RB/IL17R_fnIII_D1;RN=25 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:CA,I,C:6:7:1:5:1,1,4:36,34,157:0.00,2.97,13.97:0.00,2.97,13.97:0.00,0.00,0.00:0.00,0.00,0.90:0.00,0.00,0.90:0.00,0.00,0.00:60,60,60:0.0,22.0,25.5:0,0,1:0,0,0:125,69,58:24,82,93:0,0,19:-,NM_018725.3(IL17RB) c.482-177delA:-,NOT_FOUND:-,NOT_FOUND 3 53889369 . G . . NT END=53890870;NT GT ./. 3 53890787 rs3821867 G A 21 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.3315,A/0.6685;Gene=IL17RB/NM_018725.3/1;CC=c.530-84G>A;VC=Intron;DM=IL17RB/IL17R_fnIII_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:26:0:0:8,20:249,629:21.45,0.00:20.58,0.00:0.86,0.00:0.98,0.00:1.00,0.00:0.94,0.00:60,60:35.9,3.3:0,0:0,0:62,46:89,103:26,24:NM_018725.3(IL17RB) c.530-84G>A,-:0.64,-:NOT_FOUND,- 3 53891014 . G . . NT END=53891642;NT GT ./. 3 53891097 rs2276840 C G 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.612,G/0.388;Gene=IL17RB/NM_018725.3/1;CC=c.672+84C>G;VC=Intron;DM=IL17RB/IL17R_fnIII_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:21:8:0:0:12,9:348,258:0.00,23.89:0.00,7.30:0.00,16.59:0.00,1.00:0.00,0.98:0.00,1.00:60,60:13.2,49.3:0,0:0,0:122,116:28,35:17,19:-,NM_018725.3(IL17RB) c.672+84C>G:-,0.39:-,NOT_FOUND 3 53891718 . G . . NT END=53892375;NT GT ./. 3 53892553 rs13315972 C T 167 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.3131,T/0.6869;Gene=IL17RB/NM_018725.3/1;CC=c.748-193C>T;VC=Intron;DM=IL17RB/IL17R_fnIII_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:66:0:0:48,53:1568,1722:0.00,167.11:0.00,70.95:0.00,96.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,52.3:0,0:0,0:64,65:85,83:35,29:-,NM_018725.3(IL17RB) c.748-193C>T:-,0.66:-,NOT_FOUND 3 53892638 . G . . NT END=53892745;NT GT ./. 3 53892641 rs9840079 T G 135 nt VT=SNV;PN=A;NN=G;SST=Single;DP=97;DB;DBA=NA;PAF=T/0.3131,G/0.6869;PC=0.034;Gene=IL17RB/NM_018725.3/1;CC=c.748-105T>G;VC=Intron;DM=IL17RB/IL17R_fnIII_D2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:97:46:0:0:1,45,51:5,1425,1601:-0.20,135.09,0.00:-0.10,37.92,0.00:-0.10,97.17,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:38.0,61.0,5.9:0,0,0:0,0,0:123,101,79:22,46,72:0,33,47:NM_018725.3(IL17RB) c.748-105T>G,-:0.66,-:NOT_FOUND,- 3 53892846 . G . . NT END=53894156;NT GT ./. 3 53894256 . G . . NT END=53898772;NT GT ./. 3 53898555 rs2884631 A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5447,G/0.4553;PC=0.002;Gene=IL17RB/NM_018725.3/1;CC=c.947-218A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,G:5:5:0:0:1,4:33,127:0.00,13.52:0.00,13.52:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:76.0,55.5:0,0:0,0:44,70:107,80:0,56:-,NM_018725.3(IL17RB) c.947-218A>G:-,0.45:-,NOT_FOUND 3 53899336 . C . . NT END=53902745;NT GT ./. 3 53902890 . C . . NT END=53904008;NT GT ./. 3 53903129 rs9850063 G A 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.5956,A/0.4044;PC=0.003;Gene=ACTR8/NM_022899.4/1;CC=c.1732-240C>T;VC=Intron;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,C,G:9:0:0:0:5,1,3:145,10,101:14.55,0.44,0.00:0.00,0.00,0.00:14.55,0.44,0.00:0.96,0.00,0.00:0.00,0.00,0.00:0.96,0.00,0.00:60,60,60:40.2,65.0,4.3:0,0,0:0,0,0:144,85,119:7,45,32:4,0,12:NM_022899.4(ACTR8) c.1732-240C>T,-:0.42,-:NOT_FOUND,- 3 53904173 . C . . NT END=53905258;NT GT ./. 3 53905308 rs1046677 T C 184 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=129;DB;DBA=NA;PAF=T/0.3077,C/0.6923;PC=0.916;Gene=ACTR8/NM_022899.4/1;CC=c.1518A>G;ProtCh=p.G506=;VC=Silent;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:129:104:0:0:58,71:1952,2230:184.36,0.00:119.83,0.00:64.53,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:62.7,8.4:0,0:0,0:70,65:81,82:27,29:NM_022899.4(ACTR8) c.1518A>G (p.(=)),-:0.67,-:0.518837,- 3 53905365 . G A 209 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=133;NP=1;PC=0.044;Gene=ACTR8/NM_022899.4/1;CC=c.1461C>T;ProtCh=p.S487=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:133:87:0:0:64,69:2186,2067:209.25,0.00:110.01,0.00:99.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:60.1,7.8:0,0:0,0:71,75:75,70:36,37:NM_022899.4(ACTR8) c.1461C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 53905524 . C . . NT END=53906410;NT GT ./. 3 53906513 rs4687757 G A 97 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.3097,A/0.6903;PC=0.952;Gene=ACTR8/NM_022899.4/1;CC=c.1200C>T;ProtCh=p.I400=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:76:48:0:0:33,43:1037,1308:96.84,0.00:33.86,0.00:62.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.3,13.9:0,0:0,0:95,79:42,68:25,33:NM_022899.4(ACTR8) c.1200C>T (p.(=)),-:0.66,-:0.517069,- 3 53906552 . C . . NT END=53907058;NT GT ./. 3 53906663 rs2289203 T C 35 nt VT=SNV;PN=T;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.7738,C/0.2262;Gene=ACTR8/NM_022899.4/1;CC=c.1162-112A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:11:0:0:11,16:379,486:35.23,0.00:11.05,0.00:24.18,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:39.4,7.9:0,0:0,0:106,82:45,68:27,42:NM_022899.4(ACTR8) c.1162-112A>G,-:0.27,-:NOT_FOUND,- 3 53906891 rs45511795 C T 21 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.6372,T/0.3628;Gene=ACTR8/NM_022899.4/1;CC=c.1161+168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:15:0:0:9,7:309,226:0.00,21.18:0.00,21.43:0.00,-0.25:0.00,0.98:0.00,1.00:0.00,0.62:60,60:4.8,58.0:0,0:0,0:37,53:114,98:23,24:-,NM_022899.4(ACTR8) c.1161+168G>A:-,0.38:-,NOT_FOUND 3 53906951 rs12632292 A G 20 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.595,G/0.405;Gene=ACTR8/NM_022899.4/1;CC=c.1161+108T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:18:0:0:10,8:336,219:0.00,20.28:0.00,20.28:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:4.3,48.8:0,0:0,0:81,71:70,79:26,31:-,NM_022899.4(ACTR8) c.1161+108T>C:-,0.42:-,NOT_FOUND 3 53907155 . C . . NT END=53908237;NT GT ./. 3 53908392 . C . . NT END=53909974;NT GT ./. 3 53909731 rs893367 C A 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2891,A/0.7109;Gene=ACTR8/NM_022899.4/1;CC=c.911+244G>T;VC=Intron;DM=ACTR8/Actin;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:54:A,C:8:8:0:0:6,2:190,62:19.91,0.00:19.91,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:32.8,0.0:0,0:0,0:35,91:115,60:10,6:NM_022899.4(ACTR8) c.911+244G>T,-:0.68,-:NOT_FOUND,- 3 53910108 . C . . NT END=53910646;NT GT ./. 3 53910118 rs744277 A G 116 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.9922,G/0.007788;Gene=ACTR8/NM_022899.4/1;CC=c.779-11T>C;VC=Intron;DM=ACTR8/Actin;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:30:0:0:46,37:1387,1231:0.00,116.02:0.00,41.71:0.00,74.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.4,45.4:4,32:0,0:80,78:70,60:38,42:-,NM_022899.4(ACTR8) c.779-11T>C:-,NOT_FOUND:-,NOT_FOUND 3 53910121 rs5849012 AG A 97 idl,nt VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=AG/0.9978,A/0.002196,AA/.;NP=1272;Gene=ACTR8/NM_022899.4/1;CC=c.779-15delC;VC=Intron;DM=ACTR8/Actin;DM=ACTR8/Actin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,C,A:79:27:0:38:45,1,33:1488,12,1047:0.00,-0.06,97.37:0.00,-0.05,27.37:0.00,-0.01,70.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.8,266.0,41.2:0,0,0:0,0,0:72,133,80:79,2,69:39,0,37:-,NM_022899.4(ACTR8) c.779-15delC:-,0.66:-,NOT_FOUND 3 53910122 rs62752960 G A 8 sb;idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.6927,A/0.3073;Gene=ACTR8/NM_022899.4/1;CC=c.779-15C>T;VC=Intron;DM=ACTR8/Actin;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:17:A,G:45:15:0:38:4,41:122,1361:8.25,0.00:7.64,0.00:0.61,0.00:0.57,0.00:0.65,0.00:0.93,0.00:60,60:80.8,20.9:0,0:0,0:108,83:41,68:39,33:NM_022899.4(ACTR8) c.779-15C>T,-:0.54,-:NOT_FOUND,- 3 53910741 . C . . NT END=53911240;NT GT ./. 3 53910899 rs5849013 GA G 13 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=GA/0.3117,G/0.6883;NP=233;PC=0.046;Gene=ACTR8/NM_022899.4/1;CC=c.685-160delT;VC=Intron;DM=ACTR8/Actin;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:GA,G:6:0:0:4:2,4:68,125:0.00,12.75:0.00,0.00:0.00,12.75:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,14.8:0,0:0,0:121,91:29,59:25,17:-,NM_022899.4(ACTR8) c.685-160delT:-,NOT_FOUND:-,NOT_FOUND 3 53910919 rs5849014 G GT 19 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.01817,GT/0.9818;DB;DBA=NA;PAF=G/0.01817,GT/0.9818,GTT/.;NP=303;Gene=ACTR8/NM_022899.4/1;CC=c.685-180dupA;VC=Intron;DM=ACTR8/Actin;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GT:5:0:5:0:5:164:18.78:0.00:18.78:1.00:0.00:1.00:60:11.8:0:0:116:34:16:NM_022899.4(ACTR8) c.685-180_685-179insA,NM_022899.4(ACTR8) c.685-180_685-179insA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 53911115 rs5849015 GA G 17 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=GA/0.3111,G/0.6889;NP=1697;PC=0.001;Gene=ACTR8/NM_022899.4/1;CC=c.684+125delT;VC=Intron;DM=ACTR8/Actin;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:GA,G:14:13:0:6:8,6:269,186:0.00,17.31:0.00,14.20:0.00,3.11:0.00,0.96:0.00,1.00:0.00,0.62:60,60:5.0,6.3:0,0:0,0:46,78:104,72:17,43:-,NM_022899.4(ACTR8) c.684+125delT:-,0.66:-,NOT_FOUND 3 53911415 . C . . NT END=53911673;NT GT ./. 3 53911540 rs3733079 G A 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.6374,A/0.3626;Gene=ACTR8/NM_022899.4/1;CC=c.511-126C>T;VC=Intron;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:12:0:0:12,14:419,438:39.83,0.00:19.84,0.00:20.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.7,10.2:0,0:0,0:58,77:90,73:20,41:NM_022899.4(ACTR8) c.511-126C>T,-:0.38,-:NOT_FOUND,- 3 53911779 . C . . NT END=53912383;NT GT ./. 3 53912341 rs3733081 C A 33 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.2889,A/0.7111;Gene=ACTR8/NM_022899.4/1;CC=c.405+43G>T;VC=Intron;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:22:0:0:11,12:347,366:33.02,0.00:30.12,0.00:2.90,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:42.2,10.4:0,0:0,0:74,67:76,84:44,30:NM_022899.4(ACTR8) c.405+43G>T,-:0.68,-:0.533907,- 3 53912495 . C . . NT END=53913965;NT GT ./. 3 53914137 . C . . NT END=53916005;NT GT ./. 3 53915884 rs397802659 TCC T 57 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=TCC/0.3113,T/0.6887;DB;DBA=NA;PAF=TCC/0.3113,T/0.6887;NP=273;PC=0.002;Gene=ACTR8/NM_022899.4/1;CC=c.123+120_123+121delGG;VC=Intron;DM=ACTR8/Actin;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TCC,T:46:45:0:20:26,20:842,607:0.00,56.57:0.00,53.53:0.00,3.04:0.00,1.00:0.00,1.00:0.00,0.90:60,60:12.0,67.0:0,0:0,0:51,27:99,124:26,15:-,NM_022899.4(ACTR8) c.123+120_123+121delGG:-,0.66:-,NOT_FOUND 3 53915930 rs2276843 C T 116 nt VT=SNV;PN=C;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=C/0.6364,T/0.3636;Gene=ACTR8/NM_022899.4/1;CC=c.123+76G>A;VC=Intron;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:64:0:0:31,37:926,1191:0.00,116.39:0.00,93.81:0.00,22.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,66.9:0,0:0,0:68,49:83,102:31,29:-,NM_022899.4(ACTR8) c.123+76G>A:-,0.38:-,NOT_FOUND 3 53915937 rs2276844 T A 121 nt VT=SNV;PN=C;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.6364,A/0.3636;Gene=ACTR8/NM_022899.4/1;CC=c.123+69A>T;VC=Intron;DM=ACTR8/Actin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:79:73:0:0:41,1,37:1253,12,1130:121.34,-0.01,0.00:92.55,0.02,0.00:28.80,-0.03,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:63.6,74.0,7.8:0,0,0:0,0,0:48,108,64:100,42,87:30,0,37:NM_022899.4(ACTR8) c.123+69A>T,-:0.38,-:NOT_FOUND,- 3 53916130 rs2276845 A G 283 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=176;DB;DBA=NA;PAF=A/0.6268,G/0.3732;Gene=ACTR8/NM_022899.4/1;CC=c.-2T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:176:104:0:0:89,87:2826,2945:0.00,283.06:0.00,101.13:0.00,181.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,40.6:0,0:0,0:80,107:67,44:37,28:-,NM_022899.4(ACTR8) c.-2T>C:-,0.38:-,0.295913 3 53916165 . G . . NT END=53919584;NT GT ./. 3 53916316 rs2276846 A T 34 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.3113,T/0.6887 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:32:1:0:0:20,12:658,371:0.00,33.63:0.00,1.78:0.00,31.85:0.00,1.00:0.00,0.58:0.00,1.00:60,60:0.8,38.1:0,0:0,0:106,125:44,25:21,19:-,NM_022899.4(ACTR8) c.-101-u87T>A:-,0.67:-,NOT_FOUND 3 53919589 . C . . NT END=53919852;NT GT ./. 3 53919940 . C . . NT END=53920877;NT GT ./. 3 53920962 . C . . NT END=53922419;NT GT ./. 3 53921022 rs1020082 T C 52 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.6366,C/0.3634;Gene=SELK/NM_021237.3/1;CC=c.111-61A>G;VC=Intron;DM=SELK/DUF2763 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:10:0:0:16,11:519,340:51.62,0.00:18.09,0.00:33.54,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.0,3.2:0,0:0,0:111,123:39,28:19,16:NM_021237.3(SELK) c.111-61A>G,-:0.38,-:0.314417,- 3 53921028 rs10440151 T G 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.3109,G/0.6891;Gene=SELK/NM_021237.3/1;CC=c.111-67A>C;VC=Intron;DM=SELK/DUF2763 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:24:9:0:0:14,10:455,325:45.07,0.00:13.81,0.00:31.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.9,3.5:0,0:0,0:87,128:63,22:42,17:NM_021237.3(SELK) c.111-67A>C,-:0.67,-:NOT_FOUND,- 3 53922511 . C . . NT END=53925796;NT GT ./. 3 53922620 rs3816144 A G 18 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.3023,G/0.6977;Gene=SELK/NM_021237.3/1;CC=c.20-110T>C;VC=Intron;DM=SELK/DUF2763 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,G:17:0:0:0:11,6:333,204:0.00,18.48:0.00,0.00:0.00,18.48:0.00,0.95:0.00,0.00:0.00,0.95:60,60:10.7,47.2:0,0:0,0:105,86:46,65:7,19:-,NM_021237.3(SELK) c.20-110T>C:-,0.67:-,NOT_FOUND 3 53925816 . C . . NT END=54156740;NT GT ./. 3 53926017 rs1992155 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.3175,C/0.6825;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:20:1:0:0:7,13:200,435:17.71,0.00:-0.09,0.00:17.81,0.00:0.97,0.00:0.57,0.00:0.97,0.00:60,60:46.4,11.1:0,0:0,0:88,93:61,58:48,29:NM_021237.3(SELK) c.-174-u28A>G,-:0.66,-:NOT_FOUND,- 3 53926087 rs1992154 G T 8 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.3201,T/0.6799 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:G,T:9:0:0:0:6,3:183,91:0.00,8.05:0.00,0.00:0.00,8.05:0.00,0.64:0.00,0.00:0.00,0.64:60,60:18.0,80.7:0,0:0,0:113,78:38,69:6,15:-,NM_021237.3(SELK) c.-174-u98C>A:-,NOT_FOUND:-,NOT_FOUND 3 53926093 rs3217445 CCT C 8 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CCT/0.6466,C/0.3534;NP=11;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:CCT,C:9:0:0:3:6,3:176,92:0.00,8.14:0.00,0.00:0.00,8.14:0.00,0.64:0.00,0.00:0.00,0.64:60,60:18.0,80.7:0,0:0,0:119,84:32,63:6,15:-,NM_021237.3(SELK) c.-174-u106_-174-u105delAG:-,0.37:-,NOT_FOUND 3 53926110 rs2304575 C G 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6442,G/0.3558 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,G:8:0:0:0:5,3:150,98:0.00,8.93:0.00,0.00:0.00,8.93:0.00,0.67:0.00,0.00:0.00,0.67:60,60:21.6,80.7:0,0:0,0:135,99:16,48:5,15:-,NM_021237.3(SELK) c.-174-u121G>C:-,0.37:-,NOT_FOUND 3 54022528 rs61470950 GGT G 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GGT/0.7889,G/0.1464;NP=131;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GGT,G:4:5:0:4:1,3:36,130:0.00,9.97:0.00,6.31:0.00,3.65:0.00,0.78:0.00,0.78:0.00,0.87:60,60:0.0,11.0:0,1:0,0:113,54:38,95:0,24:-,chr3 g.54022529_54022530delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 54092106 rs369965559 ATG A 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=3;PC=0.028;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:ATG,A:5:3:0:3:2,3:67,87:0.00,8.67:0.00,5.08:0.00,3.58:0.00,0.78:0.00,0.94:0.00,0.97:60,60:0.0,31.7:0,0:0,0:23,40:99,97:19,31:-,chr3 g.54092107_54092108delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 54156863 . G . . NT END=54157539;NT GT ./. 3 54157070 rs13095161 C G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8466,G/0.1534;PC=0.007;Gene=CACNA2D3/NM_018398.2/1;CC=c.122+208C>G;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:C,G:14:0:0:0:8,6:254,172:0.00,15.89:0.00,0.00:0.00,15.89:0.00,0.96:0.00,0.00:0.00,0.96:60,60:20.5,57.0:0,0:0,0:116,95:33,55:15,24:-,NM_018398.2(CACNA2D3) c.122+208C>G:-,0.17:-,NOT_FOUND 3 54157622 . G . . NT END=54354468;NT GT ./. 3 54157710 rs2290132 A T 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.7438,T/0.2562;PC=0.271;Gene=CACNA2D3/NM_018398.2/1;CC=c.204+89A>T;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:35:7:0:0:16,19:468,623:0.00,60.91:0.00,8.38:0.00,52.53:0.00,1.00:0.00,0.99:0.00,1.00:60,60:13.3,49.3:0,0:0,0:111,95:39,55:28,40:-,NM_018398.2(CACNA2D3) c.204+89A>T:-,0.27:-,NOT_FOUND 3 54175115 rs9842778 C T 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=113;Gene=CACNA2D3/NM_018398.2/1;CC=c.204+17494C>T;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:1:0:0:1,3:33,82:0.00,8.63:0.00,-0.30:0.00,8.93:0.00,0.85:0.00,0.83:0.00,0.85:60,60:0.0,62.7:0,0:0,0:47,87:82,64:0,12:-,NM_018398.2(CACNA2D3) c.204+17494C>T:-,NOT_FOUND:-,NOT_FOUND 3 54175117 rs74484349 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4459,T/0.5541;NP=90;Gene=CACNA2D3/NM_018398.2/1;CC=c.204+17496C>T;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,T:4:1:0:0:1,3:32,74:0.00,7.81:0.00,-0.30:0.00,8.11:0.00,0.85:0.00,0.83:0.00,0.85:60,60:0.0,62.7:1,0:0,0:49,89:80,62:0,12:-,NM_018398.2(CACNA2D3) c.204+17496C>T:-,NOT_FOUND:-,NOT_FOUND 3 54183294 rs3060363 G GCA 13 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=21;NP=31;PC=0.003;Gene=CACNA2D3/NM_018398.2/1;CC=c.204+25705_204+25706insCA;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:GCA:4:5:6:0:4:185:13.10:5.55:7.55:0.93:0.99:0.99:60:30.8:2:0:70:80:19:NM_018398.2(CACNA2D3) c.204+25673_204+25674insCA,NM_018398.2(CACNA2D3) c.204+25673_204+25674insCA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 54299673 rs71074958 GTATATATATAGTGTA G 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=32;PC=0.012;Gene=CACNA2D3/NM_018398.2/1;CC=c.205-54787_205-54773delTAGTGTATATATATA;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:GTATATATATAGTGTA,G:4:1:0:2:2,2:46,67:0.00,6.46:0.00,-0.29:0.00,6.75:0.00,0.51:0.00,0.67:0.00,0.89:60,60:10.5,66.0:0,0:0,0:125,67:25,77:19,20:-,NM_018398.2(CACNA2D3) c.205-54795_205-54781delTATATATATAGTGTA:-,NOT_FOUND:-,NOT_FOUND 3 54354431 rs41277447 G T 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.8738,T/0.1262;PC=0.001;Gene=CACNA2D3/NM_018398.2/1;CC=c.205-38G>T;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:18:0:0:10,8:296,226:0.00,21.03:0.00,21.28:0.00,-0.26:0.00,0.99:0.00,0.99:0.00,0.74:60,60:31.5,59.4:0,0:0,0:58,57:92,93:29,19:-,NM_018398.2(CACNA2D3) c.205-38G>T:-,0.13:-,0.099274 3 54354510 rs9879885 T C 129 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.3466,C/0.6534;Gene=CACNA2D3/NM_018398.2/1;CC=c.246T>C;ProtCh=p.I82=;VC=Silent;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:26:0:0:35:1120:128.55:75.92:52.63:1.00:1.00:1.00:60:43.6:0:0:64:83:19:NM_018398.2(CACNA2D3) c.=,NM_018398.2(CACNA2D3) c.=:0.67,0.67:0.716523,0.716523 3 54354586 . G . . NT END=54420741;NT GT ./. 3 54420721 rs79160483 G GT 21 idl,rn VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.071;Gene=CACNA2D3/NM_018398.2/1;CC=c.322-3dupT;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:G,T,GT,D:57:53:11:17:39,1,9,8:1271,14,338,536:0.00,0.06,21.29,18.78:0.00,-0.15,9.23,8.12:0.00,0.21,12.06,10.66:0.00,0.00,0.97,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.99,0.00:60,60,60,60:17.7,14.0,19.3,54.4:0,0,2,9:0,0,0,0:68,1,55,44:81,149,96,99:42,0,36,13:-,NM_018398.2(CACNA2D3) c.322-21_322-20insT:-,NOT_FOUND:-,NOT_FOUND 3 54420802 . G . . NT END=54537518;NT GT ./. 3 54437337 rs9861335 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.02017,G/0.9798;PC=0.004;Gene=CACNA2D3/NM_018398.2/1;CC=c.381+16536A>G;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:172:19.58:15.56:4.03:1.00:1.00:1.00:60:54.8:0:0:24:87:17:NM_018398.2(CACNA2D3) c.381+16536A>G,NM_018398.2(CACNA2D3) c.381+16536A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 3 54437383 rs58890751 AACACAC A 7 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=8;Gene=CACNA2D3/NM_018398.2/1;CC=c.381+16619_381+16624delACACAC;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AACACAC,A:3:5:0:5:1,2:33,127:0.00,6.54:0.00,3.52:0.00,3.02:0.00,0.46:0.00,0.46:0.00,0.80:60,60:52.0,168.0:0,2:0,0:53,41:41,103:0,21:-,NM_018398.2(CACNA2D3) c.381+16583_381+16588delACACAC:-,NOT_FOUND:-,NOT_FOUND 3 54479582 rs3028897 T TACACACACACAC 9 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;NP=5;NP=7;Gene=CACNA2D3/NM_018398.2/1;CC=c.382-57903_382-57902insACACACACACAC;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_N;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TACACACACACAC:4:4:3:0:1,3:34,87:0.00,9.15:0.00,9.45:0.00,-0.30:0.00,0.85:0.00,0.85:0.00,0.83:39,60:0.0,0.0:0,0:0,0:96,68:35,83:0,19:-,NM_018398.2(CACNA2D3) c.382-57937_382-57936insACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 54537682 . G . . NT END=54596826;NT GT ./. 3 54596959 . G . . NT END=54603821;NT GT ./. 3 54597167 rs7374733 T C 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.237,C/0.763;Gene=CACNA2D3/NM_018398.2/1;CC=c.676+209T>C;VC=Intron;DM=CACNA2D3/VWA_N;DM=CACNA2D3/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:0:0:0:7:229:26.23:0.00:26.23:1.00:0.00:1.00:60:34.3:0:0:126:23:17:NM_018398.2(CACNA2D3) c.676+209T>C,NM_018398.2(CACNA2D3) c.676+209T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 3 54603883 . G . . NT END=54603980;NT GT ./. 3 54604132 . G . . NT END=54615829;NT GT ./. 3 54604188 rs2251788 T C 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.4794,C/0.5206;Gene=CACNA2D3/NM_018398.2/1;CC=c.888+57T>C;VC=Intron;DM=CACNA2D3/VWA_3;DM=CACNA2D3/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:50:19:0:0:1,24,25:36,769,816:2.16,73.61,0.00:1.14,20.35,0.00:1.02,53.26,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:36.0,33.3,1.0:0,0,0:0,0,0:96,112,97:54,35,53:0,15,20:NM_018398.2(CACNA2D3) c.888+57T>C,-:0.53,-:NOT_FOUND,- 3 54615905 . G . . NT END=54661813;NT GT ./. 3 54629350 rs143145735 T TGG 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=259;PC=0.005;Gene=CACNA2D3/NM_018398.2/1;CC=c.963+13447_963+13448insGG;VC=Intron;DM=CACNA2D3/VWA_3;DM=CACNA2D3/VWA_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:T,TGG:4:3:2:0:2,2:59,67:0.00,6.45:0.00,3.38:0.00,3.07:0.00,0.51:0.00,0.89:0.00,0.51:60,60:49.0,64.5:0,0:0,0:103,25:43,112:2,14:-,NM_018398.2(CACNA2D3) c.963+13446_963+13447insGG:-,NOT_FOUND:-,NOT_FOUND 3 54629356 rs367778790 T G 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.871,G/0.129;NP=172;NP=3;PC=0.009;Gene=CACNA2D3/NM_018398.2/1;CC=c.963+13452T>G;VC=Intron;DM=CACNA2D3/VWA_3;DM=CACNA2D3/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:G,T:4:3:0:0:3,1:98,35:10.25,0.00:7.20,0.00:3.05,0.00:0.85,0.00:0.99,0.00:0.99,0.00:70,60:62.7,33.0:0,0:0,0:19,107:116,43:12,0:NM_018398.2(CACNA2D3) c.963+13452T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 54660276 rs595993 G A 28 nt VT=SNV;PN=C;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.4265,A/0.5735;PC=1.000;Gene=CACNA2D3/NM_018398.2/1;CC=c.964-1538G>A;VC=Intron;DM=CACNA2D3/VWA_3;DM=CACNA2D3/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:34:31:0:0:10,23,1:323,692,11:28.28,0.00,0.00:25.71,0.00,0.06:2.56,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:0.91,0.00,0.00:60,60,60:37.1,3.5,94.0:0,0,0:0,0,0:51,24,67:99,127,84:29,17,0:NM_018398.2(CACNA2D3) c.964-1538G>A,-:0.57,-:NOT_FOUND,- 3 54660469 rs595040 G C 122 nt VT=SNV;PN=A;NN=A;SST=Single;DP=97;DB;DBA=NA;PAF=G/0.5359,C/0.4641;PC=1.000;Gene=CACNA2D3/NM_018398.2/1;CC=c.964-1345G>C;VC=Intron;DM=CACNA2D3/VWA_3;DM=CACNA2D3/VWA_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:97:64:0:0:39,58:1318,1912:122.03,0.00:76.12,0.00:45.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,9.7:0,0:0,0:67,76:84,70:37,33:NM_018398.2(CACNA2D3) c.964-1345G>C,-:0.5,-:NOT_FOUND,- 3 54661904 . G . . NT END=54676154;NT GT ./. 3 54665230 rs397989667 A AACACACACAC 6 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=52;NP=68;PC=0.008;Gene=CACNA2D3/NM_018398.2/1;CC=c.1053+3360_1053+3361insCACACACACA;VC=Intron;DM=CACNA2D3/VWA_3;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,AACACACACAC:4:5:3:0:2,2:67,99:0.00,6.31:0.00,6.54:0.00,-0.22:0.00,0.46:0.00,0.46:0.00,0.70:60,60:0.0,22.0:0,1:0,0:62,36:83,114:44,8:-,NM_018398.2(CACNA2D3) c.1053+3327_1053+3328insACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 54676269 . G . . NT END=54786625;NT GT ./. 3 54676441 rs398091460 CA C 41 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=CA/0.3151,C/0.6849;DB;DBA=NA;PAF=CA/0.3151,C/0.6849;NP=892;Gene=CACNA2D3/NM_018398.2/1;CC=c.1167+179delA;VC=Intron;DM=CACNA2D3/VWA_3;DM=CACNA2D3/Cache_1;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:C:11:0:0:11:11:358:41.05:0.00:41.05:1.00:0.00:1.00:60:0.0:0:0:113:36:24:NM_018398.2(CACNA2D3) c.1167+174delA,NM_018398.2(CACNA2D3) c.1167+174delA:0.7,0.7:NOT_FOUND,NOT_FOUND 3 54716188 rs201176478 GCA G 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=51;PC=0.173;Gene=CACNA2D3/NM_018398.2/1;CC=c.1167+39952_1167+39953delAC;VC=Intron;DM=CACNA2D3/VWA_3;DM=CACNA2D3/Cache_1;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:GCA,G:5:3:0:2:3,2:100,69:0.00,6.39:0.00,3.36:0.00,3.04:0.00,0.46:0.00,0.80:0.00,0.87:60,60:13.7,0.0:0,0:0,0:47,70:103,80:21,4:-,NM_018398.2(CACNA2D3) c.1167+39921_1167+39922delCA:-,NOT_FOUND:-,NOT_FOUND 3 54786705 . G . . NT END=54798244;NT GT ./. 3 54798258 rs3732748 G A 182 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.608,A/0.392,C/.;PC=1.000;Gene=CACNA2D3/NM_018398.2/1;CC=c.1260G>A;ProtCh=p.Q420=;VC=Silent;DM=CACNA2D3/Cache_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:102:83:0:0:58,44:1848,1463:182.11,0.00:115.46,0.00:66.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.1,8.9:0,0:0,0:77,52:74,99:35,34:NM_018398.2(CACNA2D3) c.1260G>A (p.(=)),-:0.42,-:0.396586,- 3 54798379 . G . . NT END=54850879;NT GT ./. 3 54850898 . G . . NT END=54871185;NT GT ./. 3 54871258 . G . . NT END=54872594;NT GT ./. 3 54872676 . G . . NT END=54880419;NT GT ./. 3 54880495 . G . . NT END=54905565;NT GT ./. 3 54905650 . G . . NT END=54913044;NT GT ./. 3 54905767 rs398082105 AG A 31 nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1156;Gene=CACNA2D3/NM_018398.2/1;CC=c.1710+121delG;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AG,A:16:0:0:10:6,10:210,311:0.00,31.25:0.00,0.00:0.00,31.25:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.3,10.3:0,0:0,0:113,86:37,64:17,34:-,NM_018398.2(CACNA2D3) c.1710+119delG:-,0.4:-,NOT_FOUND 3 54905806 rs3836393 G GTTT 21 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.6174,GTTT/0.3826,GTTTT/.;NP=500;PC=0.001;Gene=CACNA2D3/NM_018398.2/1;CC=c.1710+159_1710+161dupTTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTTT:14:0:7:0:7,7:231,217:0.00,20.82:0.00,0.00:0.00,20.82:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,14.7:0,0:0,0:33,106:118,45:32,26:-,NM_018398.2(CACNA2D3) c.1710+157_1710+158insTTT:-,0.4:-,NOT_FOUND 3 54913117 . G . . NT END=54913376;NT GT ./. 3 54913354 rs529018728 CT C 19 idl,rn VT=DEL;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=215;PC=1.000;Gene=CACNA2D3/NM_018398.2/1;CC=c.1783-9delT;VC=Intron;Gene=CACNA2D3-AS1/NR_046666.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:CT,T,I,C:52:40:2:9:41,1,2,8:1331,12,57,276:0.00,-0.08,3.14,18.74:0.00,0.05,1.03,14.75:0.00,-0.12,2.11,4.00:0.00,0.00,0.00,0.96:0.00,0.00,0.00,0.99:0.00,0.00,0.00,0.95:60,60,60,60:30.6,72.0,61.0,9.1:0,0,0,1:0,0,0,0:51,148,91,58:89,3,59,82:25,0,11,22:-,NM_018398.2(CACNA2D3) c.1783-22delT:-,NOT_FOUND:-,NOT_FOUND 3 54913439 . G . . NT END=54914822;NT GT ./. 3 54914891 . G . . NT END=54919307;NT GT ./. 3 54919272 rs1405330 A G 69 nt VT=SNV;PN=G;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.1482,G/0.8518;Gene=CACNA2D3/NM_018398.2/1;CC=c.1913-36A>G;VC=Intron;Gene=CACNA2D3-AS1/NR_046666.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:48:41:0:0:25,22,1:825,729,8:0.00,69.28,-0.11:0.00,43.71,-0.04:0.00,25.58,-0.07:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:6.4,39.3,91.0:0,0,0:0,0,0:46,31,93:103,106,58:30,21,0:-,NM_018398.2(CACNA2D3) c.1913-36A>G:-,0.83:-,0.761987 3 54919354 . G . . NT END=54919515;NT GT ./. 3 54919614 . G . . NT END=54921985;NT GT ./. 3 54922080 . G . . NT END=54925381;NT GT ./. 3 54925207 . CGTGTGTGTGTGTGTGTGTGT C 14 idl,nt VT=DEL;SST=Single;DP=14;Gene=CACNA2D3/NM_018398.2/1;CC=c.2151-152_2151-133delGTGTGTGTGTGTGTGTGTGT;VC=Intron;Gene=CACNA2D3-AS1/NR_046666.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:135:CGTGTGTGTGTGTGTGTGTGT,I,C:12:13:1:8:5,1,6:158,28,206:0.00,1.97,13.80:0.00,-0.13,14.04:0.00,2.10,-0.24:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.83:60,60,60:23.4,12.0,27.8:0,0,2:0,0,0:21,102,42:94,49,108:17,0,13:-,NM_018398.2(CACNA2D3) c.2151-174_2151-155delGTGTGTGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 54925478 . G . . NT END=54930775;NT GT ./. 3 54930898 . G . . NT END=54933814;NT GT ./. 3 54933896 . G . . NT END=54952485;NT GT ./. 3 54952348 rs60257399 CT C 14 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=765;Gene=CACNA2D3/NM_018398.2/1;CC=c.2449+18463delT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:CT,C:11:11:0:5:6,5:181,153:0.00,14.39:0.00,14.39:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:48.8,33.2:0,0:0,0:123,77:28,34:16,33:-,NM_018398.2(CACNA2D3) c.2449+18454delT:-,NOT_FOUND:-,NOT_FOUND 3 54952920 . C . . NT END=54958645;NT GT ./. 3 54953022 rs3832225 CTT C 22 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=433;Gene=CACNA2D3/NM_018398.2/1;CC=c.2449+19138_2449+19139delTT;VC=Intron;Gene=LRTM1/NM_020678.3/1;CC=c.605-105_605-104delAA;VC=Intron;Gene=LRTM1/NM_001304389.1/0;CC=c.377-105_377-104delAA;VC=Intron;DM=LRTM1/LRR_8;DM=LRTM1/LRR_8;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTT,C:30:3:0:11:22,8:645,353:0.00,21.75:0.00,1.45:0.00,20.30:0.00,0.98:0.00,0.60:0.00,1.00:60,60:31.5,7.0:0,3:0,0:122,106:28,44:24,23:-,NM_018398.2(CACNA2D3) c.2449+19128_2449+19129delTT:-,NOT_FOUND:-,NOT_FOUND 3 54959243 . C . . NT END=54961931;NT GT ./. 3 54961939 . G . . NT END=55002476;NT GT ./. 3 54961949 rs4245920 C T 81 nt VT=SNV;PN=T;NN=C;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.2035,T/0.7965;PC=0.008;Gene=CACNA2D3/NM_018398.2/1;CC=c.2449+28054C>T;VC=Intron;Gene=LRTM1/NM_020678.3/1;CC=c.-11G>A;VC=5UTR;Gene=LRTM1/NM_001304389.1/0;CC=c.-221-2707G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:36:0:0:27,26:914,850:0.00,81.45:0.00,35.53:0.00,45.92:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.0,59.7:0,0:0,0:78,72:67,75:28,42:-,NM_020678.2(LRTM1) c.=:-,0.8:-,0.72382 3 54962013 rs56327704 A C 64 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.5062,C/0.4938;Gene=CACNA2D3/NM_018398.2/1;CC=c.2449+28118A>C;VC=Intron;Gene=LRTM1/NM_020678.3/1;CC=c.-75T>G;VC=5UTR;Gene=LRTM1/NM_001304389.1/0;CC=c.-221-2771T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:43:18:0:0:21,22:681,668:0.00,64.30:0.00,17.76:0.00,46.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,64.9:0,0:0,0:104,92:47,57:16,25:-,NM_020678.2(LRTM1) c.=:-,0.52:-,0.369908 3 55002539 . G . . NT END=55003826;NT GT ./. 3 55003733 rs881820 G T 60 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6044,T/0.3956;PC=0.003;Gene=CACNA2D3/NM_018398.2/1;CC=c.2512-94G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:34:33:0:0:15,19:473,608:0.00,59.72:0.00,52.96:0.00,6.77:0.00,1.00:0.00,1.00:0.00,0.99:60,60:9.9,34.1:0,0:0,0:59,67:92,84:29,38:-,NM_018398.2(CACNA2D3) c.2512-94G>T:-,0.41:-,NOT_FOUND 3 55003872 . G . . NT END=55018634;NT GT ./. 3 55003992 rs398105882 T TA 15 rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.6404,TA/0.3596;DB;DBA=NA;PAF=T/0.6404,TA/0.3596;NP=258;Gene=CACNA2D3/NM_018398.2/1;CC=c.2556+134dupA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:T,TA,D:13:1:6:2:6,6,1:174,157,65:0.00,14.90,2.34:0.00,1.65,0.00:0.00,13.24,2.34:0.00,0.96,0.00:0.00,0.62,0.00:0.00,0.96,0.00:60,60,60:4.3,39.7,65.0:0,0,1:0,0,0:104,69,88:46,80,62:35,51,3:-,NM_018398.2(CACNA2D3) c.2556+121_2556+122insA:-,NOT_FOUND:-,NOT_FOUND 3 55018698 . G . . NT END=55021709;NT GT ./. 3 55021781 . G . . NT END=55038789;NT GT ./. 3 55038866 . G . . NT END=55041816;NT GT ./. 3 55038898 rs4955827 A G 109 nt VT=SNV;PN=C;NN=C;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.01218,G/0.9878,T/.;Gene=CACNA2D3/NM_018398.2/1;CC=c.2766+33A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:G:29:12:0:0:29:957:109.40:28.83:80.58:1.00:1.00:1.00:60:37.3:0:0:106:44:21:NM_018398.2(CACNA2D3) c.2766+33A>G,NM_018398.2(CACNA2D3) c.2766+33A>G:0.98,0.98:0.976336,0.976336 3 55041870 . G . . NT END=55043414;NT GT ./. 3 55043471 . G . . NT END=55052232;NT GT ./. 3 55043613 rs3773570 G C 19 nt VT=SNV;PN=A;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.3502,C/0.6498;Gene=CACNA2D3/NM_018398.2/1;CC=c.2875+143G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:15:0:0:0:7,8:204,278:19.22,0.00:0.00,0.00:19.22,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:31.0,1.5:0,0:0,0:122,68:29,82:10,51:NM_018398.2(CACNA2D3) c.2875+143G>C,-:0.65,-:NOT_FOUND,- 3 55052345 . G . . NT END=55107471;NT GT ./. 3 55107585 . A . . NT END=55107803;NT GT ./. 3 55107887 . G . . NT END=55108140;NT GT ./. 3 55108055 rs358076 G A 73 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=G/0.1591,A/0.8409;Gene=CACNA2D3/NM_018398.2/1;CC=c.3184-86G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:45:34:0:0:24,21:751,622:73.06,0.00:51.11,0.00:21.96,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,18.5:0,0:0,0:63,56:85,94:31,27:NM_018398.2(CACNA2D3) c.3184-86G>A,-:0.83,-:NOT_FOUND,- 3 55108234 . C . . NT END=55504119;NT GT ./. 3 55217798 rs376007008 T TCACACACACACACA 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;PC=0.874;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TCACACACACACACA:3:2:4:0:3:127:10.66:5.53:5.13:0.85:0.95:0.99:60:53.0:1:0:58:69:17:chr3 g.55217798_55217799insCACACACACACACA (intergenic),chr3 g.55217798_55217799insCACACACACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 55311432 rs55760203 TACACACAC T 10 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=22;PC=0.001;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:TACACACAC,T:4:3:0:3:1,3:34,92:0.00,9.65:0.00,6.30:0.00,3.35:0.00,0.85:0.00,0.99:0.00,0.95:60,60:203.0,37.3:0,0:0,0:119,71:31,79:0,10:-,chr3 g.55311433_55311440delACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 55311442 rs201536604 C T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:119:13.80:7.98:5.82:1.00:1.00:1.00:60:78.8:3:0:84:66:16:chr3 g.55311441C>T (intergenic),chr3 g.55311441C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 55311444 rs373662 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:133:15.21:9.34:5.87:1.00:1.00:1.00:60:78.8:3:0:86:64:16:chr3 g.55311443C>T (intergenic),chr3 g.55311443C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 55504579 . C . . NT END=55508364;NT GT ./. 3 55504730 rs7622120 A G 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4491,G/0.5509;Gene=WNT5A/NM_001256105.1/0;CC=c.640-152T>C;VC=Intron;Gene=WNT5A/NM_003392.4/1;CC=c.685-152T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:8,10:197,326:0.00,32.06:0.00,0.00:0.00,32.06:0.00,1.00:0.00,0.00:0.00,1.00:60,60:34.4,39.2:0,0:0,0:84,133:66,18:39,9:-,NM_003392.4(WNT5A) c.685-152T>C:-,0.52:-,NOT_FOUND 3 55508644 rs147104982 C A 227 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=142;DB;DBA=NA;PAF=C/0.9856,A/0.01438,T/.;PC=0.004;Gene=WNT5A/NM_001256105.1/0;CC=c.360G>T;ProtCh=p.T120=;VC=Silent;Gene=WNT5A/NM_003392.4/1;CC=c.405G>T;ProtCh=p.T135=;VC=Silent;DM=WNT5A/wnt GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:142:64:0:0:73,67,1,1:2342,1950,12,25:227.05,0.00,-0.09,0.68:73.41,0.00,-0.05,0.39:153.64,0.00,-0.04,0.29:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:45.2,11.2,164.0,43.0:0,0,0,0:0,0,0,0:87,96,32,58:60,48,119,77:31,32,0,0:NM_003392.4(WNT5A) c.405G>T (p.(=)),-:0.02,-:0.029706,- 3 55508658 . C . . NT END=55513341;NT GT ./. 3 55513593 . C . . NT END=55514812;NT GT ./. 3 55514766 rs73075443 A T 68 nt VT=SNV;PN=T;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.8916,T/0.1084;Gene=WNT5A/NM_001256105.1/0;CC=c.95+47T>A;VC=Intron;Gene=WNT5A/NM_003392.4/1;CC=c.140+47T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:64:57:0:0:39,1,24:1262,12,752:0.00,-0.04,68.45:0.00,-0.19,53.99:0.00,0.15,14.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.0,153.0,36.8:0,0,0:0,0,0:50,81,55:94,65,95:30,0,26:-,NM_003392.4(WNT5A) c.140+47T>A:-,0.12:-,0.124979 3 55514947 . C . . NT END=55515358;NT GT ./. 3 55515427 . G . . NT END=55521007;NT GT ./. 3 55515516 . T G 14 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=38;PC=0.939;Gene=WNT5A/NM_003392.4/1;CC=c.7-570A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:143:G,T:38:18:0:0:9,29:191,795:14.39,0.00:-0.15,0.00:14.54,0.00:0.99,0.00:0.98,0.00:0.99,0.00:60,60:74.8,15.7:0,0:0,0:100,123:42,28:50,20:NM_003392.4(WNT5A) c.7-570A>C,-:NOT_FOUND,-:NOT_FOUND,- 3 55521014 . G . . NT END=55717860;NT GT ./. 3 55644534 rs56325549 A AACACAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=11;NP=2;NP=36;Gene=ERC2/NM_015576.1/1;CC=c.*39+73287_*39+73288insGTGTGT;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,AACACAC:4:4:2:0:2,2:67,66:0.00,6.35:0.00,6.50:0.00,-0.15:0.00,0.51:0.00,0.51:0.00,0.67:60,60:15.5,7.0:0,0:0,0:81,50:70,100:45,6:-,NM_015576.1(ERC2) c.*39+73287_*39+73288insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 55717888 . C . . NT END=55733405;NT GT ./. 3 55733390 rs4955865 C T 136 nt VT=SNV;PN=G;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=C/0.6556,T/0.3444;Gene=ERC2/NM_015576.1/1;CC=c.2841+16G>A;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:94:83:0:0:48,46:1626,1429:0.00,136.50:0.00,94.35:0.00,42.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,41.0:0,0:0,0:50,51:98,97:24,27:-,NM_015576.1(ERC2) c.2847+16G>A:-,0.35:-,0.319977 3 55733541 . C . . NT END=55768798;NT GT ./. 3 55733717 rs2270583 A G 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.9111,G/0.08886;PC=0.116;Gene=ERC2/NM_015576.1/1;CC=c.2707-177T>C;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:0:0:0:14,15:390,483:0.00,46.77:0.00,0.00:0.00,46.77:0.00,1.00:0.00,0.00:0.00,1.00:60,60:8.5,70.3:0,0:0,0:74,134:75,17:41,14:-,NM_015576.1(ERC2) c.2713-177T>C:-,0.1:-,NOT_FOUND 3 55768688 rs815451 G C 207 nt VT=SNV;PN=G;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.1569,C/0.8431;PC=0.115;Gene=ERC2/NM_015576.1/1;CC=c.2706+111C>G;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:C:52:51:0:0:52:1826:207.40:195.27:12.13:1.00:1.00:1.00:60:39.6:0:0:50:97:24:NM_015576.1(ERC2) c.2712+111C>G,NM_015576.1(ERC2) c.2712+111C>G:0.81,0.81:NOT_FOUND,NOT_FOUND 3 55768947 . C . . NT END=55922416;NT GT ./. 3 55909752 rs12493910 A T 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ERC2/NM_015576.1/1;CC=c.2558+12665T>A;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,T:6:4:0:0:3,3:74,81:0.00,7.72:0.00,3.08:0.00,4.64:0.00,0.73:0.00,0.51:0.00,0.96:60,60:45.0,31.3:0,0:0,0:76,121:75,29:11,28:-,NM_015576.1(ERC2) c.2564+12665T>A:-,0.29:-,NOT_FOUND 3 55922578 . C . . NT END=55984452;NT GT ./. 3 55984589 . C . . NT END=56020004;NT GT ./. 3 55984751 rs558097842 G A 41 nt VT=SNV;PN=A;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;NP=2;Gene=ERC2/NM_015576.1/1;CC=c.2256-157C>T;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:0:0:0:14,13:421,419:40.63,0.00:0.00,0.00:40.63,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:35.9,8.8:0,0:0,0:100,134:50,17:22,7:NM_015576.1(ERC2) c.2268-163C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 56019805 rs6806267 T C 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3029,C/0.6971;PC=0.063;Gene=ERC2/NM_015576.1/1;CC=c.2255+6280A>G;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:C,T:10:10:0:0:8,2:265,63:28.14,0.00:28.14,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:50.0,5.5:0,0:0,0:54,56:96,95:16,40:NM_015576.1(ERC2) c.2267+200A>G,-:0.71,-:NOT_FOUND,- 3 56019905 rs6445762 C A 33 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.2855,A/0.7145;PC=1.000;Gene=ERC2/NM_015576.1/1;CC=c.2255+6180G>T;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,C:16:14:0:0:10,6:324,166:32.63,0.00:29.10,0.00:3.52,0.00:1.00,0.00:1.00,0.00:0.88,0.00:60,60:42.9,30.0:0,0:0,0:45,50:105,96:17,30:NM_015576.1(ERC2) c.2267+100G>T,-:0.73,-:NOT_FOUND,- 3 56020017 . C . . NT END=56026084;NT GT ./. 3 56020159 rs7613818 G A 31 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5012,A/0.4988;PC=0.019;Gene=ERC2/NM_015576.1/1;CC=c.2255+5926C>T;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,G:12:1:0:0:10,2:289,46:31.30,0.00:1.85,0.00:29.45,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:54.1,31.0:0,0:0,0:119,96:31,43:28,39:NM_015576.1(ERC2) c.2256-143C>T,-:0.53,-:NOT_FOUND,- 3 56026034 rs4974160 C T 110 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ERC2/NM_015576.1/1;CC=c.2255+51G>A;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:63:60:0:0:1,27,35:11,902,1118:-0.00,0.00,109.97:0.02,0.00,89.04:-0.02,0.00,20.92:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:67.0,4.4,42.5:0,0,0:0,0,0:125,36,42:25,111,99:0,13,27:-,NM_015576.1(ERC2) c.2255+51G>A:-,0.27:-,0.202794 3 56026279 . C . . NT END=56037126;NT GT ./. 3 56037025 rs5849124 C CAT 38 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.2374,CAT/0.7626,CTA/.;NP=104;PC=0.002;Gene=ERC2/NM_015576.1/1;CC=c.2061+4183_2061+4184insAT;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CAT:21:21:12:0:9,12:309,382:0.00,37.69:0.00,35.93:0.00,1.77:0.00,1.00:0.00,1.00:0.00,0.71:60,60:0.0,3.8:0,0:0,0:66,52:85,99:49,22:-,NM_015576.1(ERC2) c.2061+4183_2061+4184insAT:-,NOT_FOUND:-,NOT_FOUND 3 56037163 . C . . NT END=56041208;NT GT ./. 3 56037241 rs555980438 CA C 107 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=100;PC=1.000;Gene=ERC2/NM_015576.1/1;CC=c.2061+3967delT;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:CA,C:36:13:0:31:5,31:140,980:0.00,106.57:0.00,26.76:0.00,79.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:53.2,2.1:1,0:0,0:113,96:4,53:24,28:-,NM_015576.1(ERC2) c.2061+3967delT:-,1:-,NOT_FOUND 3 56037249 rs79443371 A AG 111 nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.0001997,AG/0.4818;DB;DBA=NA;PAF=A/0.0001997,G/0.518;NP=98;PC=1.000;Gene=ERC2/NM_015576.1/1;CC=c.2061+3959_2061+3960insC;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:A,G,AG:33:10:31:0:1,1,31:32,10,986:0.00,0.24,111.31:0.00,0.00,25.95:0.00,0.24,85.37:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:0.0,111.0,7.1:0,0,0:0,0,0:149,120,103:1,31,46:0,0,28:NM_015576.1(ERC2) c.2061+3959_2061+3960insC,NM_015576.1(ERC2) c.2061+3959_2061+3960insC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 56041187 rs1379715 C T 71 nt VT=SNV;PN=T;NN=T;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.5978,T/0.4022;Gene=ERC2/NM_015576.1/1;CC=c.2061+22G>A;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:44:0:0:27,23:926,750:0.00,71.00:0.00,38.77:0.00,32.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.2,45.7:0,1:0,0:46,54:96,75:22,23:-,NM_015576.1(ERC2) c.2061+22G>A:-,0.39:-,0.309786 3 56041350 . C . . NT END=56044476;NT GT ./. 3 56044310 rs572276632 CA C 7 rn VT=DEL;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=250;Gene=ERC2/NM_015576.1/1;CC=c.1920+166delT;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:CA,I,C:24:24:1:3:20,1,3:650,33,96:0.00,2.03,7.16:0.00,2.03,7.16:0.00,0.00,0.00:0.00,0.00,0.47:0.00,0.00,0.47:0.00,0.00,0.00:60,60,60:13.2,0.0,0.0:0,0,0:0,0,0:39,28,15:101,123,136:29,0,10:-,NM_015576.1(ERC2) c.1920+166delT:-,NOT_FOUND:-,NOT_FOUND 3 56044618 . C . . NT END=56052921;NT GT ./. 3 56045634 rs5849125 AAC A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;PC=0.010;Gene=ERC2/NM_015576.1/1;CC=c.1780-1019_1780-1018delGT;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AAC,A:3:3:0:3:1,2:32,100:0.00,6.75:0.00,4.96:0.00,1.79:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,4.0:0,1:0,0:143,69:7,80:0,17:-,NM_015576.1(ERC2) c.1780-1019_1780-1018delGT:-,NOT_FOUND:-,NOT_FOUND 3 56053060 . C . . NT END=56114844;NT GT ./. 3 56114750 rs17825159 G A 54 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8019,A/0.1981;Gene=ERC2/NM_015576.1/1;CC=c.1641+95C>T;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:36:0:0:17,20:566,618:53.63,0.00:50.22,0.00:3.41,0.00:1.00,0.00:1.00,0.00:0.76,0.00:60,60:50.3,1.8:0,0:0,0:62,34:89,117:40,25:NM_015576.1(ERC2) c.1641+95C>T,-:0.2,-:NOT_FOUND,- 3 56115013 . C . . NT END=56173536;NT GT ./. 3 56115188 rs9881968 C G 41 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.8017,G/0.1983;Gene=ERC2/NM_015576.1/1;CC=c.1474-176G>C;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:23:0:0:0:9,13,1:248,410,10:0.00,40.71,0.15:0.00,0.00,0.00:0.00,40.71,0.15:0.00,1.00,0.00:0.00,0.00,0.00:0.00,1.00,0.00:60,60,60:18.9,47.2,38.0:0,0,0:0,0,0:112,99,61:38,52,90:11,24,0:-,NM_015576.1(ERC2) c.1474-176G>C:-,0.2:-,NOT_FOUND 3 56115221 rs397824583 T TA 9 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=308;Gene=ERC2/NM_015576.1/1;CC=c.1474-210dupT;VC=Intron;Gene=ERC2/NR_132749/0;VC=NonCoding;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:T,TA:17:0:4:0:13,4:399,107:0.00,8.58:0.00,0.00:0.00,8.58:0.00,0.74:0.00,0.00:0.00,0.74:60,60:32.5,48.8:0,0:0,0:113,97:37,54:32,5:-,NM_015576.1(ERC2) c.1474-210_1474-209insT:-,NOT_FOUND:-,NOT_FOUND 3 56173705 . C . . NT END=56183004;NT GT ./. 3 56183161 . C . . NT END=56207473;NT GT ./. 3 56207549 . C . . NT END=56330046;NT GT ./. 3 56330464 . C . . NT END=56468378;NT GT ./. 3 56469036 . T . . NT END=56591270;NT GT ./. 3 56591059 rs79600744 C A 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.8091,A/0.1909;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:22:22:0:0:10,12:207,376:18.80,0.00:18.80,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:103.1,41.8:0,0:0,0:28,49:118,101:19,29:NM_001141947.1(CCDC66) c.-87-u125C>A,-:0.26,-:NOT_FOUND,- 3 56591065 rs62255964 A C 76 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.2536,C/0.7464 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:22:0:0:22:654:75.76:75.76:0.00:1.00:1.00:0.00:60:69.6:0:0:44:107:27:NM_001141947.1(CCDC66) c.-87-u119A>C,NM_001141947.1(CCDC66) c.-87-u119A>C:0.8,0.8:NOT_FOUND,NOT_FOUND 3 56591178 rs73079891 A G 104 nt VT=SNV;PN=T;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.8087,G/0.1913 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:66:59:0:0:33,33:996,1078:0.00,103.70:0.00,80.02:0.00,23.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.3,56.1:0,0:0,0:34,33:116,116:24,25:-,NM_001141947.1(CCDC66) c.-87-u6A>G:-,0.26:-,0.37823 3 56591208 rs62255965 G C 163 nt VT=SNV;PN=G;NN=C;SST=Single;DP=89;DB;DBA=NA;PAF=G/0.9431,C/0.05691;PC=0.151;Gene=CCDC66/NM_001012506.4/0;CC=c.-146G>C;VC=5UTR;Gene=CCDC66/NM_001141947.1/1;CC=c.-63G>C;VC=5UTR;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:89:78:0:0:50,38,1:1656,1202,12:163.33,0.00,-0.01:113.39,0.00,0.04:49.94,0.00,-0.06:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.0,37.9,68.0:0,0,0:0,0,0:39,40,69:105,101,80:27,23,0:NM_001141947.1(CCDC66) c.-63G>C,-:0.05,-:NOT_FOUND,- 3 56591278 rs150150392 T TGGGGTAAGCA 74 PASS VT=INS;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.3504,TAAGCA/.,TGGGGTAAGCA/0.6496,TGGGGTAAGCAGGGGTAAGCA/.;NP=1;PC=1.000;Gene=CCDC66/NM_001012506.4/0;CC=c.-92+35_-92+36insAGGGGTAAGC;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.11+16_11+17insAGGGGTAAGC;ProtCh=p.D5*;VC=FrameShiftIns;Gene=CCDC66/NR_024460.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TGGGGTAAGCA:124:92:30:0:94,30:2953,896:0.00,74.15:0.00,41.32:0.00,32.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.1,5.5:1,0:0,0:74,51:67,98:32,18:-,NM_001141947.1(CCDC66) c.11_12insGTAAGCAGGG (p.Asp5*):-,0.69:-,0.735629 3 56591282 . g . . NT END=56592873;NT GT ./. 3 56591298 rs73079892 T A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=109;DB;DBA=NA;PAF=NA;Gene=CCDC66/NM_001012506.4/0;CC=c.-92+36T>A;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.11+17T>A;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:7:A,C,G,T:109:70:0:0:8,1,1,99:268,26,7,3116:18.28,0.68,-0.35,0.00:6.15,0.36,-0.14,0.00:12.13,0.32,-0.21,0.00:0.91,0.00,0.00,0.00:0.97,0.00,0.00,0.00:0.98,0.00,0.00,0.00:60,60,60,60:56.2,39.0,31.0,20.6:0,0,0,0:0,0,0,0:135,51,106,84:11,35,43,62:10,0,0,24:NM_001141947.1(CCDC66) c.11+17T>A,-:0.2,-:NOT_FOUND,- 3 56591508 rs73079894 C A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8087,A/0.1913;Gene=CCDC66/NM_001012506.4/0;CC=c.-92+246C>A;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.11+227C>A;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:A,C:16:0:0:0:6,10:161,311:14.36,0.00:0.00,0.00:14.36,0.00:0.95,0.00:0.00,0.00:0.95,0.00:60,60:35.7,6.7:0,0:0,0:109,101:41,50:20,15:NM_001141947.1(CCDC66) c.11+227C>A,-:0.26,-:NOT_FOUND,- 3 56592939 . G . . NT END=56593596;NT GT ./. 3 56593388 rs17235670 A G 23 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7849,G/0.2151;Gene=CCDC66/NM_001012506.4/0;CC=c.-26-209A>G;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.77-209A>G;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:A,G:9:8:0:0:2,7:64,220:0.00,23.24:0.00,19.38:0.00,3.87:0.00,1.00:0.00,1.00:0.00,0.85:60,60:0.0,36.1:0,0:0,0:112,88:37,62:8,21:-,NM_001141947.1(CCDC66) c.77-209A>G:-,0.28:-,NOT_FOUND 3 56593543 rs12486047 C A 58 nt VT=SNV;PN=A;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.3496,A/0.6504;PC=0.529;Gene=CCDC66/NM_001012506.4/0;CC=c.-26-54C>A;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.77-54C>A;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:36:28:0:0:19,17:593,562:57.53,0.00:27.30,0.00:30.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.3,8.9:0,0:0,0:56,69:89,82:16,36:NM_001141947.1(CCDC66) c.77-54C>A,-:0.71,-:NOT_FOUND,- 3 56593623 . G . . NT END=56597711;NT GT ./. 3 56593680 rs11130525 T C 111 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.2424,C/0.7576;Gene=CCDC66/NM_001012506.4/0;CC=c.-1+58T>C;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.102+58T>C;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:10:0:0:28:972:110.55:26.99:83.57:1.00:1.00:1.00:60:42.9:0:0:95:54:20:NM_001141947.1(CCDC66) c.102+58T>C,NM_001141947.1(CCDC66) c.102+58T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 3 56597421 rs543571899 GA G 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=237;PC=0.001;Gene=CCDC66/NM_001012506.4/0;CC=c.1-277delA;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.103-277delA;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:4:4:129:14.81:11.03:3.78:1.00:1.00:1.00:60:13.0:0:0:69:80:43:NM_001141947.1(CCDC66) c.103-290delA,NM_001141947.1(CCDC66) c.103-290delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 56597688 rs6781293 A G 93 nt VT=SNV;PN=G;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=A/0.8085,G/0.1915;PC=0.232;Gene=CCDC66/NM_001012506.4/0;CC=c.1-24A>G;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.103-24A>G;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:55:49:0:0:25,30:825,956:0.00,93.43:0.00,64.45:0.00,28.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.0,33.3:0,0:0,0:39,62:109,88:26,25:-,NM_001141947.1(CCDC66) c.103-24A>G:-,0.26:-,0.377958 3 56597954 rs6769055 C T 76 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=C/0.3492,T/0.6508;Gene=CCDC66/NM_001012506.4/0;CC=c.243C>T;ProtCh=p.T81=;VC=Silent;Gene=CCDC66/NM_001141947.1/1;CC=c.345C>T;ProtCh=p.T115=;VC=Silent;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:65:35:0:0:39,26:1175,824:0.00,75.83:0.00,26.67:0.00,49.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,35.3:0,0:0,0:88,72:62,78:34,48:-,NM_001141947.1(CCDC66) c.345C>T (p.(=)):-,0.71:-,0.773182 3 56598154 . G . . NT END=56600621;NT GT ./. 3 56600531 rs10865997 G A 29 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.3492,A/0.6508;Gene=CCDC66/NM_001012506.4/0;CC=c.443-91G>A;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.545-91G>A;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:17:0:0:10,8:300,280:29.40,0.00:27.99,0.00:1.41,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:39.0,11.0:0,0:0,0:35,67:114,83:20,31:NM_001141947.1(CCDC66) c.545-91G>A,-:0.71,-:NOT_FOUND,- 3 56600788 . G . . NT END=56600977;NT GT ./. 3 56601082 . G . . NT END=56605208;NT GT ./. 3 56601175 rs112310084 T C 38 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.7849,C/0.2151;PC=0.150;Gene=CCDC66/NM_001012506.4/0;CC=c.712+94T>C;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.814+94T>C;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:3:0:0:12,13:396,404:37.81,0.00:3.42,0.00:34.39,0.00:1.00,0.00:0.87,0.00:1.00,0.00:60,60:45.5,34.2:0,0:0,0:101,118:50,33:28,20:NM_001141947.1(CCDC66) c.814+94T>C,-:0.28,-:NOT_FOUND,- 3 56601195 rs62255972 G A 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9443,A/0.05571;PC=0.017;Gene=CCDC66/NM_001012506.4/0;CC=c.712+114G>A;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.814+114G>A;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:0:0:0:10,10:336,324:32.35,0.00:0.00,0.00:32.35,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:44.5,37.7:0,0:0,0:126,113:24,37:17,10:NM_001141947.1(CCDC66) c.814+114G>A,-:0.05,-:NOT_FOUND,- 3 56605331 . G . . NT END=56606364;NT GT ./. 3 56605404 rs139586078 TA T 36 idl,rn VT=DEL;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=573;PC=0.001;Gene=CCDC66/NM_001012506.4/0;CC=c.834+85delA;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.936+85delA;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:TA,I,T:31:11:11:12:10,9,12:285,326,375:0.00,25.14,36.00:0.00,7.47,12.76:0.00,17.67,23.24:0.00,0.00,1.00:0.00,0.00,0.82:0.00,0.00,1.00:60,60,60:46.4,43.9,7.4:0,2,0:0,0,0:136,120,120:14,31,30:11,5,10:-,NM_001141947.1(CCDC66) c.936+75delA:-,NOT_FOUND:-,NOT_FOUND 3 56606457 . G . . NT END=56626997;NT GT ./. 3 56627048 rs1388256 A G 252 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=A/0.264,G/0.736;PC=0.997;Gene=CCDC66/NM_001012506.4/0;CC=c.885A>G;ProtCh=p.Q295=;VC=Silent;Gene=CCDC66/NM_001141947.1/1;CC=c.987A>G;ProtCh=p.Q329=;VC=Silent;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:G:66:44:0:0:66:2201:251.54:122.96:128.58:1.00:1.00:1.00:60:42.0:0:0:92:57:31:NM_001141947.1(CCDC66) c.987A>G (p.(=)),NM_001141947.1(CCDC66) c.987A>G (p.(=)):0.78,0.78:0.839689,0.839689 3 56627130 . G . . NT END=56627518;NT GT ./. 3 56627358 rs9985317 G T 71 nt VT=SNV;PN=T;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3856,T/0.6144;PC=0.006;Gene=CCDC66/NM_001012506.4/0;CC=c.967-161G>T;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.1069-161G>T;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:34:26:0:0:12,22:391,697:0.00,70.61:0.00,46.25:0.00,24.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,42.5:0,0:0,0:46,69:103,81:28,57:-,NM_001141947.1(CCDC66) c.1069-161G>T:-,0.68:-,NOT_FOUND 3 56627598 rs1491170 A G 304 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=88;DB;DBA=NA;PAF=A/0.03974,G/0.9603;Gene=CCDC66/NM_001012506.4/0;CC=c.1046A>G;ProtCh=p.Q349R;VC=Missense;Gene=CCDC66/NM_001141947.1/1;CC=c.1148A>G;ProtCh=p.Q383R;VC=Missense;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:88:64:0:0:88:2619:303.64:182.69:120.95:1.00:1.00:1.00:60:34.6:0:0:66:83:39:NM_001141947.1(CCDC66) c.1148A>G (p.Gln383Arg),NM_001141947.1(CCDC66) c.1148A>G (p.Gln383Arg):0.96,0.96:0.954098,0.954098 3 56627770 . G . . NT END=56627971;NT GT ./. 3 56628031 rs7637449 G A 93 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.7849,A/0.2151;PC=0.998;Gene=CCDC66/NM_001012506.4/0;CC=c.1277G>A;ProtCh=p.R426Q;VC=Missense;Gene=CCDC66/NM_001141947.1/1;CC=c.1379G>A;ProtCh=p.R460Q;VC=Missense;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:63:35:0:0:31,32:973,1015:93.10,0.00:40.73,0.00:52.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,6.9:0,0:0,0:93,91:58,52:24,30:NM_001141947.1(CCDC66) c.1379G>A (p.Arg460Gln),-:0.28,-:0.407427,- 3 56628057 . G . . NT END=56647616;NT GT ./. 3 56628226 rs73081854 A T 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7847,T/0.2153;PC=0.004;Gene=CCDC66/NM_001012506.4/0;CC=c.1302+170A>T;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.1404+170A>T;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,T:5:0:0:0:1,4:36,139:0.00,14.72:0.00,0.00:0.00,14.72:0.00,0.96:0.00,0.00:0.00,0.96:60,60:10.0,40.8:0,0:0,0:29,76:122,73:0,28:-,NM_001141947.1(CCDC66) c.1404+170A>T:-,0.28:-,NOT_FOUND 3 56647783 . G . . NT END=56649155;NT GT ./. 3 56649033 rs62256023 T C 44 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=T/0.9445,C/0.05551;Gene=CCDC66/NM_001012506.4/0;CC=c.1465-123T>C;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.1567-123T>C;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:20:19:0:0:13,7:437,203:44.28,0.00:40.89,0.00:3.39,0.00:1.00,0.00:1.00,0.00:0.77,0.00:60,60:35.2,25.0:0,0:0,0:84,66:66,68:47,17:NM_001141947.1(CCDC66) c.1567-123T>C,-:0.05,-:NOT_FOUND,- 3 56649301 . G . . NT END=56649931;NT GT ./. 3 56649594 rs6445801 C T 14 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2155,T/0.7845;PC=0.016;Gene=CCDC66/NM_001012506.4/0;CC=c.1609+294C>T;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.1711+294C>T;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:118:13.70:3.58:10.13:1.00:1.00:1.00:60:51.2:0:0:74:76:34:NM_001141947.1(CCDC66) c.1711+294C>T,NM_001141947.1(CCDC66) c.1711+294C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 3 56650051 rs77152637 A ACTT 50 PASS VT=INS;SST=Single;DP=53;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2167,ACTT/.,ACTTCTC/0.3227,ACTTCTT/0.4607;NP=2036;Gene=CCDC66/NM_001012506.4/0;CC=c.1714_1716dupTCT;ProtCh=p.S572_K573insS;VC=InFrameIns;Gene=CCDC66/NM_001141947.1/1;CC=c.1816_1818dupTCT;ProtCh=p.S606_K607insS;VC=InFrameIns;Gene=CCDC66/NR_024460.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACTT:53:29:18:0:35,18:1125,557:0.00,49.54:0.00,18.35:0.00,31.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,11.4:0,0:0,0:80,55:66,96:37,28:-,NM_001141947.1(CCDC66) c.1816_1818dupTCT (p.Ser606dup):-,0.7:-,0.589826 3 56650082 . G . . NT END=56651139;NT GT ./. 3 56650178 rs9833926 A G 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2153,G/0.7847;Gene=CCDC66/NM_001012506.4/0;CC=c.1741+97A>G;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.1843+97A>G;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,G:10:4:0:0:4,6:137,206:0.00,20.54:0.00,3.21:0.00,17.33:0.00,0.99:0.00,0.97:0.00,0.99:60,60:2.8,36.7:0,0:0,0:120,119:30,20:11,16:-,NM_001141947.1(CCDC66) c.1843+97A>G:-,0.72:-,NOT_FOUND 3 56651634 . G . . NT END=56652199;NT GT ./. 3 56651902 rs75531148 T C 12 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9062,C/0.09385;Gene=CCDC66/NM_001012506.4/0;CC=c.2235+269T>C;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.2337+269T>C;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:127:C,T:11:3:0:0:4,7:130,224:11.78,0.00:10.81,0.00:0.96,0.00:0.82,0.00:0.76,0.00:0.96,0.00:60,60:40.0,28.1:0,0:0,0:40,107:110,44:27,12:NM_001141947.1(CCDC66) c.2337+269T>C,-:0.08,-:NOT_FOUND,- 3 56652241 . G . . NT END=56653298;NT GT ./. 3 56653024 rs397989713 TC T 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TC/0.5333,T/0.4667;DB;DBA=NA;PAF=TC/0.5333,T/0.4667;NP=11;PC=0.005;Gene=CCDC66/NM_001012506.4/0;CC=c.2277-273delC;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.2379-273delC;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TC,T:4:4:0:2:2,2:68,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:0.0,0.0:0,0:0,0:44,66:106,84:4,27:-,NM_001141947.1(CCDC66) c.2379-274delC:-,0.34:-,NOT_FOUND 3 56653424 rs61747991 A T 125 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=A/0.9429,T/0.05711;PC=0.042;Gene=CCDC66/NM_001012506.4/0;CC=c.2402A>T;ProtCh=p.E801V;VC=Missense;Gene=CCDC66/NM_001141947.1/1;CC=c.2504A>T;ProtCh=p.E835V;VC=Missense;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:75:51:0:0:34,41:1118,1277:0.00,124.72:0.00,76.54:0.00,48.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.0,75.2:0,0:0,0:83,63:63,88:33,40:-,NM_001141947.1(CCDC66) c.2504A>T (p.Glu835Val):-,0.05:-,0.049746 3 56653427 rs61747994 T C 137 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.9435,C/0.05651;Gene=CCDC66/NM_001012506.4/0;CC=c.2405T>C;ProtCh=p.L802S;VC=Missense;Gene=CCDC66/NM_001141947.1/1;CC=c.2507T>C;ProtCh=p.L836S;VC=Missense;Gene=CCDC66/NR_024460.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:77:51:0:0:41,36:1410,1170:137.43,0.00:76.68,0.00:60.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:75.3,3.4:0,0:0,0:64,78:87,71:43,37:NM_001141947.1(CCDC66) c.2507T>C (p.Leu836Ser),-:0.05,-:0.049669,- 3 56653556 . G . . NT END=56653804;NT GT ./. 3 56653609 rs10534869 CGT C 54 nt VT=DEL;SST=Single;DP=46;DB;DBA=NA;PAF=CGT/0.2151,C/0.7849;NP=2504;PC=0.001;Gene=CCDC66/NM_001012506.4/0;CC=c.2533+55_2533+56delGT;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.2635+55_2635+56delGT;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CGT,C:46:18:0:19:27,19:780,589:0.00,54.44:0.00,24.41:0.00,30.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,4.9:1,0:0,0:123,89:26,61:23,20:-,NM_001141947.1(CCDC66) c.2635+55_2635+56delGT:-,0.71:-,NOT_FOUND 3 56653930 . G . . NT END=56655559;NT GT ./. 3 56655441 rs73083715 A C 31 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.9445,C/0.05551;Gene=CCDC66/NM_001012506.4/0;CC=c.2659-119A>C;VC=Intron;Gene=CCDC66/NM_001141947.1/1;CC=c.2761-119A>C;VC=Intron;Gene=CCDC66/NR_024460.1/0;VC=NonCoding;Gene=FAM208A/NM_015224.3/0;CC=c.*1624T>G;VC=3UTR;Gene=FAM208A/NM_001112736.1/1;CC=c.*2375T>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:186:A,C:15:15:0:0:6,9:187,307:0.00,30.61:0.00,30.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:22.2,61.7:0,0:0,0:68,43:80,107:24,16:-,NM_001112736.1(FAM208A) c.*2375T>G:-,0.05:-,NOT_FOUND 3 56655647 . A . . NT END=56657064;NT GT ./. 3 56657045 . TA T 7 rn VT=DEL;SST=Single;DP=33;NP=4;PC=0.007;Gene=FAM208A/NM_015224.3/0;CC=c.*19delT;VC=3UTR;Gene=FAM208A/NM_001112736.1/1;CC=c.*770delT;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:TA,T:33:31:0:3:30,3:936,100:0.00,7.07:0.00,5.84:0.00,1.23:0.00,0.41:0.00,0.87:0.00,0.49:60,60:9.9,0.0:0,0:0,0:61,96:87,55:40,26:-,NM_001112736.1(FAM208A) c.*762T[8]:-,NOT_FOUND:-,NOT_FOUND 3 56657872 . C . . NT END=56658506;NT GT ./. 3 56658672 . C . . NT END=56658855;NT GT ./. 3 56659035 . C . . NT END=56661064;NT GT ./. 3 56661174 . C . . NT END=56661609;NT GT ./. 3 56661586 rs56758331 G A 84 nt VT=SNV;PN=C;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;Gene=FAM208A/NM_015224.3/0;CC=c.2719+24C>T;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.4030+24C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:51:43:0:0:26,25:872,735:84.32,0.00:56.99,0.00:27.33,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.0,19.9:0,0:0,0:54,51:96,86:37,20:NM_001112736.1(FAM208A) c.4030+24C>T,-:0.05,-:0.050054,- 3 56661770 . C . . NT END=56662519;NT GT ./. 3 56662643 . C . . NT END=56667071;NT GT ./. 3 56666957 rs9878373 T G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.2157,G/0.7843;Gene=FAM208A/NM_015224.3/0;CC=c.2436+115A>C;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.3747+115A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:16:16:0:0:6,10:214,325:19.67,0.00:19.67,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:40.3,1.3:0,0:0,0:45,33:105,117:19,24:NM_001112736.1(FAM208A) c.3747+115A>C,-:0.72,-:NOT_FOUND,- 3 56667682 rs9835332 G C 214 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=151;DB;DBA=NA;PAF=G/0.2157,C/0.7843;PC=0.112;Gene=FAM208A/NM_015224.3/0;CC=c.1826C>G;ProtCh=p.T609R;VC=Missense;Gene=FAM208A/NM_001112736.1/1;CC=c.3137C>G;ProtCh=p.T1046R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:151:99:0:0:1,67,82,1:9,2265,2695,8:-0.19,213.93,0.00,-0.21:-0.09,103.09,0.00,-0.10:-0.11,110.83,0.00,-0.11:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:0.00,1.00,0.00,0.00:60,60,60,60:52.0,41.6,9.9,45.0:0,0,0,0:0,0,0,0:124,74,65,53:13,69,85,98:0,37,41,0:NM_001112736.1(FAM208A) c.3137C>G (p.Thr1046Arg),-:0.72,-:0.591573,- 3 56667995 . C . . NT END=56672733;NT GT ./. 3 56672608 rs4681945 G C 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.2157,C/0.7843;Gene=FAM208A/NM_015224.3/0;CC=c.1636+126C>G;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.2824+126C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:C,G:21:21:0:0:6,15:181,452:15.51,0.00:15.51,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:42.3,0.0:0,0:0,0:46,68:102,83:3,38:NM_001112736.1(FAM208A) c.2824+126C>G,-:0.72,-:NOT_FOUND,- 3 56672794 . C . . NT END=56674013;NT GT ./. 3 56674159 . C . . NT END=56675376;NT GT ./. 3 56674190 rs1489949 A C 154 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.01917,C/0.9808,G/.;Gene=FAM208A/NM_015224.3/0;CC=c.1432-32T>G;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.2620-32T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:C:39:21:0:0:39:1351:153.70:55.08:98.62:1.00:1.00:1.00:60:36.4:0:0:97:43:29:NM_001112736.1(FAM208A) c.2620-32T>G,NM_001112736.1(FAM208A) c.2620-32T>G:0.97,0.97:0.954238,0.954238 3 56674303 rs3732513 T C 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.6516,C/0.3484;Gene=FAM208A/NM_015224.3/0;CC=c.1432-145A>G;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.2620-145A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:0:0:0:10,8:326,264:32.00,0.00:0.00,0.00:32.00,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:41.8,14.4:0,0:0,0:100,106:50,44:29,17:NM_001112736.1(FAM208A) c.2620-145A>G,-:0.28,-:NOT_FOUND,- 3 56675781 . C . . NT END=56680549;NT GT ./. 3 56681252 . C . . NT END=56682849;NT GT ./. 3 56681431 rs146432449 A AC 10 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.9445,AC/0.05551;NP=19;PC=0.003;Gene=FAM208A/NM_015224.3/0;CC=c.326-181_326-180insG;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.1514-181_1514-180insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,AC:14:0:4:0:10,4:314,118:0.00,10.07:0.00,0.00:0.00,10.07:0.00,0.77:0.00,0.00:0.00,0.77:60,60:12.1,39.2:0,0:0,0:121,94:28,56:14,16:-,NM_001112736.1(FAM208A) c.1514-181_1514-180insG:-,0.05:-,NOT_FOUND 3 56682922 . C . . NT END=56683012;NT GT ./. 3 56683086 . C . . NT END=56694758;NT GT ./. 3 56683295 rs2306931 A G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9445,G/0.05551;Gene=FAM208A/NM_015224.3/0;CC=c.181-210T>C;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.1369-210T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:7:0:0:0:4,3:135,98:0.00,9.16:0.00,0.00:0.00,9.16:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,32.7:0,0:0,0:82,76:68,75:14,19:-,NM_001112736.1(FAM208A) c.1369-210T>C:-,0.05:-,NOT_FOUND 3 56694742 rs41276465 A G 77 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.9445,G/0.05551;PC=0.001;Gene=FAM208A/NM_015224.3/0;CC=c.180+17T>C;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.1368+17T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:52:50:0:0:28,24:921,816:0.00,77.46:0.00,66.33:0.00,11.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,36.2:0,0:0,0:54,47:93,104:28,36:-,NM_001112736.1(FAM208A) c.1368+17T>C:-,0.05:-,0.048308 3 56694863 . C . . NT END=56694941;NT GT ./. 3 56695046 . C . . NT END=56696412;NT GT ./. 3 56695060 rs7619465 T A 58 nt VT=SNV;PN=T;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.2157,A/0.7843;Gene=FAM208A/NM_015224.3/0;CC=c.-28-15A>T;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.1161-15A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:44:22:0:0:19,25:619,769:57.92,0.00:16.64,0.00:41.27,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.8,3.8:0,0:0,0:110,100:37,46:20,24:NM_001112736.1(FAM208A) c.1161-15A>T,-:0.71,-:0.566841,- 3 56695289 rs41276467 C G 8 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.9445,G/0.05551;PC=0.062;Gene=FAM208A/NM_015224.3/0;CC=c.-28-244G>C;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.1161-244G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,G:6:0:0:0:3,3:102,87:0.00,8.32:0.00,0.00:0.00,8.32:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,68.7:0,0:0,0:135,106:16,43:14,19:-,NM_001112736.1(FAM208A) c.1161-244G>C:-,0.05:-,NOT_FOUND 3 56695300 rs41276469 G A 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.9443,A/0.05571;PC=0.002;Gene=FAM208A/NM_015224.3/0;CC=c.-28-255C>T;VC=Intron;Gene=FAM208A/NM_001112736.1/1;CC=c.1161-255C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:5:0:0:0:3,2:98,64:9.77,0.00:0.00,0.00:9.77,0.00:0.78,0.00:0.00,0.00:0.78,0.00:60,60:68.7,0.0:0,0:0,0:117,135:32,15:19,10:NM_001112736.1(FAM208A) c.1161-255C>T,-:0.05,-:NOT_FOUND,- 3 56696519 . C . . NT END=56697568;NT GT ./. 3 56697962 . t . . NT END=56700287;NT GT ./. 3 56700180 rs397989716 TA T 56 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=198;Gene=FAM208A/NM_001112736.1/1;CC=c.1022+107delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TA,T:26:28:0:22:1,7,18:12,231,656:0.29,0.00,56.10:0.30,0.00,52.11:-0.01,0.00,3.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.78:60,60,70:58.0,7.6,12.7:0,0,4:0,0,0:140,53,48:10,98,101:0,19,29:-,NM_001112736.1(FAM208A) c.1022+107delT:-,NOT_FOUND:-,NOT_FOUND 3 56700413 . C . . NT END=56702424;NT GT ./. 3 56700429 rs2306930 G C 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.9445,C/0.05551;Gene=FAM208A/NM_001112736.1/1;CC=c.898-17C>G;VC=Intron;DM=FAM208A/DUF3715 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:51:23:0:0:20,31:655,962:60.20,0.00:14.80,0.00:45.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.2,10.7:0,0:0,0:91,102:59,46:16,33:NM_001112736.1(FAM208A) c.898-17C>G,-:0.05,-:0.049759,- 3 56702587 . C . . NT END=56703727;NT GT ./. 3 56702728 rs59835031 G A 34 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.9445,A/0.05551;Gene=FAM208A/NM_001112736.1/1;CC=c.736-142C>T;VC=Intron;DM=FAM208A/DUF3715 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:1:0:0:11,9:350,284:34.27,0.00:1.86,0.00:32.41,0.00:1.00,0.00:0.70,0.00:1.00,0.00:60,60:35.0,20.2:0,0:0,0:96,58:54,93:34,30:NM_001112736.1(FAM208A) c.736-142C>T,-:0.05,-:NOT_FOUND,- 3 56703569 rs79178434 A C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.9445,C/0.05551;Gene=FAM208A/NM_001112736.1/1;CC=c.735+159T>G;VC=Intron;DM=FAM208A/DUF3715 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,C:12:12:0:0:6,6:200,181:0.00,17.33:0.00,17.33:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:1.7,30.2:0,0:0,0:37,50:113,100:21,28:-,NM_001112736.1(FAM208A) c.735+159T>G:-,0.05:-,NOT_FOUND 3 56703708 rs371509955 AGTGT A 55 nt VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=AGTGT/0.9445,A/0.05551;DB;DBA=NA;PAF=AGTGT/0.9445,A/0.05551;NP=84;Gene=FAM208A/NM_001112736.1/1;CC=c.735+16_735+19delACAC;VC=Intron;DM=FAM208A/DUF3715;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AGTGT,A:41:31:0:18:23,18:765,590:0.00,55.39:0.00,32.35:0.00,23.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,2.1:0,0:0,0:26,53:124,94:14,20:-,NM_001112736.1(FAM208A) c.735+16_735+19delACAC:-,0.05:-,0.049149 3 56703820 . C . . NT END=56704100;NT GT ./. 3 56704174 . C . . NT END=56705627;NT GT ./. 3 56705721 . C . . NT END=56707607;NT GT ./. 3 56707754 . C . . NT END=56716703;NT GT ./. 3 56716922 rs958755 T G 360 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=245;DB;DBA=NA;PAF=T/0.2157,G/0.7843;PC=1.000;Gene=FAM208A/NM_001112736.1/1;CC=c.113A>C;ProtCh=p.Q38P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:245:139:0:0:2,121,122:13,3761,3915:-0.36,360.48,0.00:-0.16,171.31,0.00:-0.20,189.16,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:108.0,38.8,6.3:0,0,0:0,0,0:63,70,83:88,77,62:18,39,39:NM_001112736.1(FAM208A) c.113A>C (p.Gln38Pro),-:0.72,-:0.5707,- 3 56717035 . C . . NT END=56763296;NT GT ./. 3 56763651 . C . . NT END=56766264;NT GT ./. 3 56766138 rs41276473 G A 22 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9193,A/0.08067;Gene=ARHGEF3/NM_001128616.1/0;CC=c.1246+128C>T;VC=Intron;Gene=ARHGEF3/NM_019555.2/0;CC=c.1228+128C>T;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.1246+128C>T;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.1324+128C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:23:0:0:9,14:243,362:21.90,0.00:21.90,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.3,25.4:0,0:0,0:27,66:124,84:15,38:NM_001128615.1(ARHGEF3) c.1324+128C>T,-:0.08,-:NOT_FOUND,- 3 56766453 . C . . NT END=56771211;NT GT ./. 3 56771384 . C . . NT END=56779231;NT GT ./. 3 56779491 . C . . NT END=56785082;NT GT ./. 3 56779704 . AT A 6 rn VT=DEL;SST=Single;DP=16;Gene=ARHGEF3/NM_001128616.1/0;CC=c.631-215delA;VC=Intron;Gene=ARHGEF3/NM_019555.2/0;CC=c.613-215delA;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.631-215delA;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.709-215delA;VC=Intron;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:AT,I,A:16:0:1:3:12,1,3:366,34,83:0.00,2.34,6.47:0.00,0.00,0.00:0.00,2.34,6.47:0.00,0.00,0.54:0.00,0.00,0.00:0.00,0.00,0.54:60,60,70:8.8,35.0,19.0:0,0,0:0,0,0:71,19,103:79,98,45:38,0,34:-,NM_001128615.1(ARHGEF3) c.709-215delA:-,NOT_FOUND:-,NOT_FOUND 3 56785161 . C . . NT END=56785326;NT GT ./. 3 56785425 . C . . NT END=56787530;NT GT ./. 3 56785556 rs6792241 C T 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4768,T/0.5232;Gene=ARHGEF3/NM_001128616.1/0;CC=c.457-132G>A;VC=Intron;Gene=ARHGEF3/NM_019555.2/0;CC=c.439-132G>A;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.457-132G>A;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.535-132G>A;VC=Intron;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T:10:0:0:0:5,5:159,160:0.00,15.37:0.00,0.00:0.00,15.37:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,38.2:0,0:0,0:93,67:58,84:22,50:-,NM_001128615.1(ARHGEF3) c.535-132G>A:-,0.51:-,NOT_FOUND 3 56787451 rs3821412 C T 31 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.2171,T/0.7829;Gene=ARHGEF3/NM_001128616.1/0;CC=c.456+81G>A;VC=Intron;Gene=ARHGEF3/NM_019555.2/0;CC=c.438+81G>A;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.456+81G>A;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.534+81G>A;VC=Intron;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF;DM=ARHGEF3/RhoGEF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:20:0:0:12,10:405,329:0.00,31.09:0.00,22.60:0.00,8.49:0.00,1.00:0.00,1.00:0.00,0.96:60,60:12.9,36.4:0,0:0,0:87,26:63,124:32,17:-,NM_001128615.1(ARHGEF3) c.534+81G>A:-,0.74:-,NOT_FOUND 3 56787595 . C . . NT END=56789007;NT GT ./. 3 56789180 . C . . NT END=56807735;NT GT ./. 3 56807845 . C . . NT END=56809027;NT GT ./. 3 56807854 rs374677472 TA T 14 sb;idl,rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=19;Gene=ARHGEF3/NM_001128616.1/0;CC=c.115-11delT;VC=Intron;Gene=ARHGEF3/NM_019555.2/0;CC=c.97-11delT;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.115-11delT;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.193-11delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:TA,I,T:49:28:5:8:38,5,6:1152,164,244:0.00,12.05,13.73:0.00,5.13,1.37:0.00,6.91,12.36:0.00,0.00,0.85:0.00,0.00,0.92:0.00,0.00,0.98:60,60,60:18.8,5.0,8.8:0,0,2:0,0,0:96,89,85:43,29,50:30,15,28:-,NM_001128615.1(ARHGEF3) c.193-11delT:-,NOT_FOUND:-,NOT_FOUND 3 56808770 rs11130547 T C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.6999,C/0.3001;PC=0.067;Gene=ARHGEF3/NM_001128616.1/0;CC=c.114+258A>G;VC=Intron;Gene=ARHGEF3/NM_019555.2/0;CC=c.97-926A>G;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.115-926A>G;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.193-926A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:213:24.59:22.55:2.04:1.00:1.00:1.00:60:41.0:0:0:68:83:41:NM_001128615.1(ARHGEF3) c.193-926A>G,NM_001128615.1(ARHGEF3) c.193-926A>G:0.34,0.34:NOT_FOUND,NOT_FOUND 3 56808956 rs34038168 A AC 82 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5695,AC/0.4305;NP=650;PC=0.012;Gene=ARHGEF3/NM_001128616.1/0;CC=c.114+71_114+72insG;VC=Intron;Gene=ARHGEF3/NM_019555.2/0;CC=c.97-1113_97-1112insG;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.115-1113_115-1112insG;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.193-1113_193-1112insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:AC:22:21:22:0:22:713:81.79:77.91:3.88:1.00:1.00:1.00:70:2.5:0:0:38:112:29:NM_001128615.1(ARHGEF3) c.193-1113_193-1112insG,NM_001128615.1(ARHGEF3) c.193-1113_193-1112insG:0.58,0.58:NOT_FOUND,NOT_FOUND 3 56809628 rs7646054 A G 252 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=A/0.3129,G/0.6871;Gene=ARHGEF3/NM_001128616.1/0;CC=c.-487T>C;VC=5UTR;Gene=ARHGEF3/NM_019555.2/0;CC=c.97-1784T>C;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.115-1784T>C;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.193-1784T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:67:32:0:0:67:2198:251.68:85.23:166.45:1.00:1.00:1.00:60:37.9:0:0:72:78:45:NM_001128615.1(ARHGEF3) c.193-1784T>C,NM_001128615.1(ARHGEF3) c.193-1784T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 3 56809746 . G . . NT END=56835730;NT GT ./. 3 56809820 rs9880418 A G 99 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.4505,G/0.5495;Gene=ARHGEF3/NM_019555.2/0;CC=c.97-1976T>C;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.115-1976T>C;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.193-1976T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:60:A,G,T:30:10:0:0:1,28,1:14,880,11:0.00,99.28,0.31:0.00,22.16,-0.01:0.00,77.12,0.33:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:26.0,46.1,67.0:0,0,0:0,0,0:142,92,29:7,58,122:0,23,0:NM_001128615.1(ARHGEF3) c.193-1976T>C,NM_001128615.1(ARHGEF3) c.193-1976T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 56809828 rs559637760 G GCA 64 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=6;Gene=ARHGEF3/NM_019555.2/0;CC=c.97-1985_97-1984insTG;VC=Intron;Gene=ARHGEF3/NM_001289698.1/0;CC=c.115-1985_115-1984insTG;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.193-1985_193-1984insTG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:159:A,G,GCA:27:7:20:1:1,6,20:11,193,604:0.25,0.00,63.81:-0.02,0.00,12.65:0.28,0.00,51.16:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:67.0,41.2,44.2:0,0,0:0,0,0:37,133,88:114,17,60:0,6,16:-,NM_001128615.1(ARHGEF3) c.193-1985_193-1984insTG:-,NOT_FOUND:-,NOT_FOUND 3 56835996 . G . . NT END=56916318;NT GT ./. 3 56916383 . C . . NT END=56950336;NT GT ./. 3 56950069 rs12629330 T C 25 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.1132,C/0.8868;Gene=ARHGEF3/NM_001289698.1/0;CC=c.51+268A>G;VC=Intron;Gene=ARHGEF3/NM_001128615.1/1;CC=c.130-33687A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:218:25.14:25.14:0.00:1.00:1.00:0.00:60:41.9:0:0:52:99:35:NM_001128615.1(ARHGEF3) c.130-33687A>G,NM_001128615.1(ARHGEF3) c.130-33687A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 3 56950494 . C . . NT END=56992849;NT GT ./. 3 56992918 . C . . NT END=57041209;NT GT ./. 3 57026052 . CTGTG C 6 idl,rn VT=DEL;SST=Single;DP=7;Gene=ARHGEF3/NM_001128615.1/1;CC=c.63-33139_63-33136delCACA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CTGTG,C:5:6:0:4:3,2:105,127:0.00,6.43:0.00,5.90:0.00,0.53:0.00,0.39:0.00,0.85:0.00,0.74:60,60:36.3,35.5:0,2:0,0:129,37:22,113:7,5:-,NM_001128615.1(ARHGEF3) c.63-33139_63-33136delCACA:-,NOT_FOUND:-,NOT_FOUND 3 57034338 rs71076009 C A 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5675,A/0.4325;DB;DBA=NA;PAF=NA;NP=1;NP=107;Gene=ARHGEF3/NM_001128615.1/1;CC=c.62+34778G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:137:15.61:7.85:7.75:1.00:1.00:1.00:60:43.0:2:0:99:51:22:NM_001128615.1(ARHGEF3) c.62+34778G>T,NM_001128615.1(ARHGEF3) c.62+34778G>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 57041365 . C . . NT END=57069114;NT GT ./. 3 57069178 . A . . NT END=57107722;NT GT ./. 3 57108296 . T . . NT END=57130419;NT GT ./. 3 57130534 . C . . NT END=57131622;NT GT ./. 3 57131529 rs6764188 A C 37 nt VT=SNV;PN=T;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3944,C/0.6056;Gene=IL17RD/NM_017563.3/1;CC=c.2107+95T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:23:23:0:0:11,12:320,381:0.00,36.93:0.00,36.93:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:15.6,39.6:0,0:0,0:56,70:95,81:38,16:-,NM_017563.3(IL17RD) c.2107+95T>G:-,0.59:-,NOT_FOUND 3 57132200 rs2291462 A G 174 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=A/0.2638,G/0.7362;PC=0.989;Gene=IL17RD/NM_017563.3/1;CC=c.1531T>C;ProtCh=p.L511=;VC=Silent;DM=IL17RD/SEFIR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:122:74:0:0:66,56:2117,1838:0.00,173.98:0.00,86.26:0.00,87.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,44.8:0,0:0,0:83,79:66,71:39,47:-,NM_017563.3(IL17RD) c.1531T>C (p.(=)):-,0.71:-,0.79102 3 57132567 . C . . NT END=57135205;NT GT ./. 3 57135392 . C . . NT END=57136505;NT GT ./. 3 57135518 rs2291461 C G 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.263,G/0.737;Gene=IL17RD/NM_017563.3/1;CC=c.980-127G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,G:9:0:0:0:6,3:145,106:0.00,9.56:0.00,0.00:0.00,9.56:0.00,0.64:0.00,0.00:0.00,0.64:60,60:25.2,37.0:0,0:0,0:82,71:68,79:40,3:-,NM_017563.3(IL17RD) c.980-127G>C:-,0.71:-,NOT_FOUND 3 57136618 . C . . NT END=57137117;NT GT ./. 3 57137090 rs2247656 A G 38 nt VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.2063,G/0.7937;Gene=IL17RD/NM_017563.3/1;CC=c.868+29T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:23:0:0:14,12:459,396:0.00,37.54:0.00,21.54:0.00,16.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,33.9:0,0:0,0:24,70:117,80:12,35:-,NM_017563.3(IL17RD) c.868+29T>C:-,0.77:-,0.858747 3 57137174 . C . . NT END=57138368;NT GT ./. 3 57138419 rs6780995 G A 47 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.4698,A/0.5302;PC=0.992;Gene=IL17RD/NM_017563.3/1;CC=c.764C>T;ProtCh=p.T255M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:46:30:0:0:16,30:524,999:47.12,0.00:21.44,0.00:25.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.2,0.8:0,0:0,0:72,74:66,74:20,33:NM_017563.3(IL17RD) c.764C>T (p.Thr255Met),-:0.5,-:0.666077,- 3 57138436 . C . . NT END=57139883;NT GT ./. 3 57139833 rs1545982 G A 40 nt VT=SNV;PN=T;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.2632,A/0.7368;Gene=IL17RD/NM_017563.3/1;CC=c.747+52C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:35:0:0:14,22:442,708:40.44,0.00:37.52,0.00:2.92,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:42.0,11.4:0,0:0,0:34,45:116,104:13,23:NM_017563.3(IL17RD) c.747+52C>T,-:0.71,-:NOT_FOUND,- 3 57139972 rs1545981 A G 110 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.2063,G/0.7937;PC=0.004;Gene=IL17RD/NM_017563.3/1;CC=c.660T>C;ProtCh=p.H220=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:61:0:0:44,36:1462,1167:0.00,109.97:0.00,54.06:0.00,55.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,41.3:0,0:0,0:91,49:57,98:31,35:-,NM_017563.3(IL17RD) c.660T>C (p.(=)):-,0.77:-,0.858911 3 57140037 . C . . NT END=57140136;NT GT ./. 3 57140108 rs2035654 G A 80 nt VT=SNV;PN=A;NN=A;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.2632,A/0.7368;Gene=IL17RD/NM_017563.3/1;CC=c.595+30C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:30:0:0:27,37:862,1229:80.16,0.00:33.52,0.00:46.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,9.9:0,0:0,0:93,81:51,70:43,38:NM_017563.3(IL17RD) c.595+30C>T,-:0.71,-:0.791635,- 3 57140183 . C . . NT END=57143563;NT GT ./. 3 57143376 rs9835455 T C 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2043,C/0.7957;PC=0.013;Gene=IL17RD/NM_017563.3/1;CC=c.550+189A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:C,T:8:8:0:0:4,4:135,128:13.00,0.00:13.00,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:54.0,3.2:0,0:0,0:23,39:128,111:6,4:NM_017563.3(IL17RD) c.550+189A>G,-:0.77,-:NOT_FOUND,- 3 57143686 . C . . NT END=57144219;NT GT ./. 3 57143995 rs6445856 A G 8 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4866,G/0.5134;PC=0.001;Gene=IL17RD/NM_017563.3/1;CC=c.429+226T>C;VC=Intron;DM=IL17RD/IL17R_D_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,G:7:6:0:0:4,3:120,90:0.00,8.35:0.00,4.75:0.00,3.61:0.00,0.69:0.00,0.95:0.00,0.62:60,60:4.8,58.7:0,0:0,0:30,145:119,6:18,1:-,NM_017563.3(IL17RD) c.429+226T>C:-,0.49:-,NOT_FOUND 3 57144340 . C . . NT END=57148718;NT GT ./. 3 57148846 . C . . NT END=57154282;NT GT ./. 3 57148968 rs11916303 C A 15 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4868,A/0.5132;Gene=IL17RD/NM_017563.3/1;CC=c.185-123G>T;VC=Intron;DM=IL17RD/IL17R_D_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:128:A,C:10:1:0:0:6,4:155,128:15.41,0.00:-0.20,0.00:15.61,0.00:0.99,0.00:0.73,0.00:0.99,0.00:60,60:44.8,33.2:0,0:0,0:98,99:52,51:28,7:NM_017563.3(IL17RD) c.185-123G>T,-:0.49,-:NOT_FOUND,- 3 57154342 . C . . NT END=57176480;NT GT ./. 3 57176598 . C . . NT END=57198953;NT GT ./. 3 57199315 . G . . NT END=57232224;NT GT ./. 3 57232324 . C . . NT END=57232418;NT GT ./. 3 57232521 . C . . NT END=57232780;NT GT ./. 3 57232981 . C . . NT END=57233789;NT GT ./. 3 57233649 rs113245988 GA G 11 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;NP=7;PC=0.120;Gene=HESX1/NM_003865.2/1;CC=c.157+140delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:GA,G:16:16:0:4:12,4:412,130:0.00,11.00:0.00,11.00:0.00,0.00:0.00,0.75:0.00,0.75:0.00,0.00:60,60:36.8,22.8:0,0:0,0:45,59:104,91:23,48:-,NM_003865.2(HESX1) c.157+140delT:-,NOT_FOUND:-,NOT_FOUND 3 57233661 rs12715498 A T 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4291,T/0.5709;PC=0.006;Gene=HESX1/NM_003865.2/1;CC=c.157+129T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:20:20:0:0:9,11:296,330:0.00,32.24:0.00,32.24:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:13.4,41.4:0,0:0,0:43,30:107,120:38,23:-,NM_003865.2(HESX1) c.157+129T>A:-,0.56:-,NOT_FOUND 3 57233679 rs61589498 ATAAAT A 32 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=ATAAAT/0.5064,A/0.4936;DB;DBA=NA;PAF=ATAAAT/0.5064,A/0.4936;NP=619;Gene=HESX1/NM_003865.2/1;CC=c.157+106_157+110delATTTA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAAAT,A:21:21:0:11:10,11:307,333:0.00,32.25:0.00,30.75:0.00,1.50:0.00,1.00:0.00,1.00:0.00,0.68:60,60:12.1,38.5:0,0:0,0:58,42:91,109:36,17:-,NM_003865.2(HESX1) c.157+106_157+110delATTTA:-,0.51:-,NOT_FOUND 3 57233947 . C . . NT END=57261911;NT GT ./. 3 57261966 . G . . NT END=57269593;NT GT ./. 3 57269693 . G . . NT END=57271519;NT GT ./. 3 57271580 . G . . NT END=57272072;NT GT ./. 3 57272145 . G . . NT END=57274492;NT GT ./. 3 57274581 . G . . NT END=57276128;NT GT ./. 3 57276171 . G . . NT END=57276883;NT GT ./. 3 57276258 rs397989739 GA G 38 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1208;PC=0.001;Gene=APPL1/NM_012096.2/1;CC=c.415+96delA;VC=Intron;DM=APPL1/BAR_3;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,T,G:20:2:0:12:7,1,12:241,13,374:0.00,0.42,37.67:0.00,-0.03,-0.60:0.00,0.46,38.27:0.00,0.00,1.00:0.00,0.00,0.87:0.00,0.00,1.00:60,60,60:1.3,13.0,19.8:0,0,0:0,0,0:131,150,107:20,1,43:17,0,27:-,NM_012096.2(APPL1) c.415+89delA:-,NOT_FOUND:-,NOT_FOUND 3 57276943 . G . . NT END=57280103;NT GT ./. 3 57276995 . T C 27 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;PC=0.006;Gene=APPL1/NM_012096.2/1;CC=c.474+53T>C;VC=Intron;DM=APPL1/BAR_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:21:6:0:0:9,12:288,394:26.85,0.00:9.72,0.00:17.13,0.00:1.00,0.00:0.95,0.00:1.00,0.00:60,60:38.3,7.2:0,0:0,0:106,99:45,49:24,29:NM_012096.2(APPL1) c.474+53T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 57280251 . G . . NT END=57281422;NT GT ./. 3 57281506 . G . . NT END=57282220;NT GT ./. 3 57282380 . G . . NT END=57283387;NT GT ./. 3 57283577 . G . . NT END=57286296;NT GT ./. 3 57286340 . G . . NT END=57287709;NT GT ./. 3 57287767 . G . . NT END=57290984;NT GT ./. 3 57291080 . G . . NT END=57291273;NT GT ./. 3 57291457 . G . . NT END=57293055;NT GT ./. 3 57293109 . G . . NT END=57293872;NT GT ./. 3 57293297 rs925566 T C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5359,C/0.4641;Gene=APPL1/NM_012096.2/1;CC=c.1483+189T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:136:C,T:9:0:0:0:4,5:134,165:12.62,0.00:0.00,0.00:12.62,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:48.8,1.8:0,0:0,0:123,104:28,46:13,9:NM_012096.2(APPL1) c.1483+189T>C,-:0.48,-:NOT_FOUND,- 3 57294048 . G . . NT END=57294144;NT GT ./. 3 57294085 rs10510791 C G 97 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.5369,G/0.4631;PC=0.013;Gene=APPL1/NM_012096.2/1;CC=c.1658+38C>G;VC=Intron;DM=APPL1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:59:27:0:0:29,30:975,1005:0.00,97.04:0.00,31.91:0.00,65.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,42.8:0,0:0,0:92,88:55,61:30,25:-,NM_012096.2(APPL1) c.1658+38C>G:-,0.48:-,0.322851 3 57294182 . G . . NT END=57294655;NT GT ./. 3 57294295 rs1533272 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5361,C/0.4639;PC=0.001;Gene=APPL1/NM_012096.2/1;CC=c.1695+114T>C;VC=Intron;DM=APPL1/PID GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:148:C,T:13:3:0:0:5,8:150,248:13.62,0.00:0.71,0.00:12.91,0.00:0.91,0.00:0.79,0.00:0.99,0.00:60,60:36.4,4.1:0,0:0,0:111,94:40,56:36,29:NM_012096.2(APPL1) c.1695+114T>C,-:0.48,-:NOT_FOUND,- 3 57294803 . G . . NT END=57301769;NT GT ./. 3 57294884 rs67718309 CAAATT C 47 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=CAAATT/0.5543,C/0.4457;DB;DBA=NA;PAF=CAAATT/0.5543,C/0.4457;NP=1221;PC=0.702;Gene=APPL1/NM_012096.2/1;CC=c.1842+89_1842+93delAATTA;VC=Intron;DM=APPL1/PID;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAAATT,C:26:6:0:15:11,15:384,479:0.00,47.36:0.00,4.29:0.00,43.07:0.00,1.00:0.00,0.99:0.00,1.00:60,60:2.1,3.9:0,0:0,0:93,93:58,57:15,28:-,NM_012096.2(APPL1) c.1842+83_1842+87delAAATT:-,0.46:-,NOT_FOUND 3 57301821 . G . . NT END=57302425;NT GT ./. 3 57302516 . G . . NT END=57303568;NT GT ./. 3 57303716 . G . . NT END=57310577;NT GT ./. 3 57310757 . C . . NT END=57311794;NT GT ./. 3 57311949 . C . . NT END=57312404;NT GT ./. 3 57312981 . T . . NT END=57314329;NT GT ./. 3 57314191 rs56781587 C CAA 9 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=3;NP=4;PC=0.295;Gene=ASB14/NM_001142733.2/1;CC=c.887+138_887+139insTT;VC=Intron;DM=ASB14/Ank_2;DM=ASB14/Ank_2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:C,CAA,D:10:14:7:2:5,3,2:152,230,60:0.00,8.50,4.93:0.00,8.50,4.93:0.00,0.00,0.00:0.00,0.56,0.00:0.00,0.56,0.00:0.00,0.00,0.00:60,60,60:46.2,145.0,59.0:0,4,0:0,0,0:94,21,14:53,130,137:9,12,9:-,NM_001142733.2(ASB14) c.887+138_887+139insTT:-,NOT_FOUND:-,NOT_FOUND 3 57314502 . C . . NT END=57317185;NT GT ./. 3 57314594 rs62251997 A G 38 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8854,G/0.1146;Gene=ASB14/NM_001142733.2/1;CC=c.716-93T>C;VC=Intron;DM=ASB14/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:6:0:0:7,12:230,382:0.00,38.45:0.00,8.56:0.00,29.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,53.9:0,0:0,0:119,100:31,50:28,21:-,NM_001142733.2(ASB14) c.716-93T>C:-,0.14:-,NOT_FOUND 3 57317468 . C . . NT END=57321928;NT GT ./. 3 57317586 rs11130579 C T 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.5351,T/0.4649;Gene=ASB14/NM_001142733.2/1;CC=c.470-119G>A;VC=Intron;DM=ASB14/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:C,G,T:12:0:0:0:5,1,6:170,12,193:0.00,0.48,18.85:0.00,0.00,0.00:0.00,0.48,18.85:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:3.8,203.0,33.8:0,0,0:0,0,0:111,102,89:40,49,61:18,0,29:-,NM_001142733.2(ASB14) c.470-119G>A:-,0.49:-,NOT_FOUND 3 57321916 rs883244 T G 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.2642,G/0.7358;Gene=ASB14/NM_001142733.2/1;CC=c.469+13A>C;VC=Intron;DM=ASB14/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:36:32:0:0:1,17,18:18,581,585:0.57,55.68,0.00:0.65,50.23,0.00:-0.08,5.45,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:18.0,35.9,6.1:0,0,0:0,0,0:13,72,25:138,78,113:0,26,14:NM_001142733.2(ASB14) c.469+13A>C,-:0.74,-:0.640604,- 3 57322088 . C . . NT END=57322182;NT GT ./. 3 57322315 . C . . NT END=57323095;NT GT ./. 3 57323152 . C . . NT END=57325939;NT GT ./. 3 57323170 rs528035 A G 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.5288,G/0.4712;Gene=ASB14/NM_001142733.2/1;CC=c.123-19T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:11:0:0:14,12:464,369:0.00,34.80:0.00,7.50:0.00,27.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.9,50.0:0,0:0,0:90,88:58,54:30,22:-,NM_001142733.2(ASB14) c.123-19T>C:-,0.5:-,0.328077 3 57326105 . A . . NT END=57327808;NT GT ./. 3 57327763 . G GT 13 idl,rn VT=INS;SST=Single;DP=53;NP=4;Gene=DNAH12/NM_001291661.1/1;CC=c.*45dupA;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:G,T,GT,D:50:50:7:7:38,1,6,5:1166,17,210,219:0.00,0.26,13.21,10.93:0.00,0.30,12.11,8.40:0.00,-0.04,1.10,2.54:0.00,0.00,0.84,0.00:0.00,0.00,0.99,0.00:0.00,0.00,0.68,0.00:60,60,60,60:20.2,50.0,39.0,38.8:0,1,1,2:0,0,0,0:38,68,25,52:113,39,99,99:24,0,20,35:-,NM_178504.4(DNAH12) c.*45dupA:-,NOT_FOUND:-,NOT_FOUND 3 57328000 . C . . NT END=57329552;NT GT ./. 3 57328100 rs115894676 C A 33 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.984,A/0.01597;PC=0.001;Gene=DNAH12/NM_001291661.1/1;CC=c.9123-101G>T;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:31:4:0:0:12,19:364,606:33.13,0.00:2.21,0.00:30.92,0.00:1.00,0.00:0.86,0.00:1.00,0.00:60,60:65.0,15.6:0,0:0,0:91,89:60,62:13,31:NM_178504.4(DNAH12) c.9089-101G>T,-:0.02,-:NOT_FOUND,- 3 57328221 rs778133 T G 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5413,G/0.4587;PC=0.001;Gene=DNAH12/NM_001291661.1/1;CC=c.9123-222A>C;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:G,T,I:5:0:1:0:3,1,1:97,35,33:10.07,0.00,2.98:0.00,0.00,0.00:10.07,0.00,2.98:0.78,0.00,0.00:0.00,0.00,0.00:0.78,0.00,0.00:60,60,60:36.0,37.0,0.0:0,0,0:0,0,0:53,75,119:98,75,28:50,0,0:NM_178504.4(DNAH12) c.9089-222A>C,-:0.43,-:NOT_FOUND,- 3 57329621 . C . . NT END=57330371;NT GT ./. 3 57330464 . C . . NT END=57330874;NT GT ./. 3 57331013 . C . . NT END=57335762;NT GT ./. 3 57331227 rs502442 G A 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.5321,A/0.4679;Gene=DNAH12/NM_001291661.1/1;CC=c.8825-215C>T;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:A,G:8:0:0:0:5,3:167,76:16.81,0.00:0.00,0.00:16.81,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:33.4,12.0:0,0:0,0:107,136:44,13:23,6:NM_178504.4(DNAH12) c.8791-215C>T,-:0.49,-:NOT_FOUND,- 3 57335705 rs67229457 TACACACACAC T 52 idl,nt VT=DEL;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;PC=0.001;Gene=DNAH12/NM_001291661.1/1;CC=c.8824+48_8824+57delGTGTGTGTGT;VC=Intron;DM=DNAH12/Dynein_heavy;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TACACACACAC,I,T:40:44:1:25:21,1,18:611,32,761:0.00,1.81,52.30:0.00,0.85,46.52:0.00,0.96,5.79:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.99:60,60,60:22.4,59.0,39.7:0,0,7:0,0,0:89,21,42:58,129,102:38,0,11:-,NM_178504.4(DNAH12) c.8790+48_8790+57delGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 57335876 rs4060726 C T 134 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.3349,T/0.6651;Gene=DNAH12/NM_001291661.1/1;CC=c.8711G>A;ProtCh=p.R2904Q;VC=Missense;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:90:52:0:0:47,43:1367,1409:0.00,134.43:0.00,45.70:0.00,88.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,38.8:0,0:0,0:91,77:57,74:27,37:-,NM_178504.4(DNAH12) c.8677G>A (p.Gly2893Ser):-,0.67:-,0.576873 3 57335968 . C . . NT END=57343178;NT GT ./. 3 57343283 . C . . NT END=57343693;NT GT ./. 3 57343883 . C . . NT END=57344744;NT GT ./. 3 57344979 . C . . NT END=57348521;NT GT ./. 3 57348660 . C . . NT END=57356370;NT GT ./. 3 57356512 . C . . NT END=57357034;NT GT ./. 3 57357289 . C . . NT END=57357496;NT GT ./. 3 57357648 . C . . NT END=57368492;NT GT ./. 3 57368638 . C . . NT END=57368809;NT GT ./. 3 57368969 . C . . NT END=57386112;NT GT ./. 3 57372509 rs11929378 G A 10 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.757,A/0.243;PC=0.040;Gene=DNAH12/NM_001291661.1/1;CC=c.7105-3541C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:106:A,G:12:8:0:0:4,8:112,262:9.77,0.00:1.05,0.00:8.73,0.00:0.80,0.00:0.94,0.00:0.98,0.00:60,60:39.2,12.5:0,0:0,0:57,66:94,75:14,31:NM_178504.4(DNAH12) c.7071-3541C>T,-:0.26,-:NOT_FOUND,- 3 57386254 . C . . NT END=57388118;NT GT ./. 3 57388037 . CT C 7 rn VT=DEL;SST=Single;DP=23;NP=32;Gene=DNAH12/NM_001291661.1/1;CC=c.6961+997delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:53:CT,I,C:23:22:1:3:19,1,3:572,33,95:0.00,2.05,7.13:0.00,2.10,7.28:0.00,-0.05,-0.15:0.00,0.00,0.90:0.00,0.00,0.89:0.00,0.00,0.44:60,60,60:17.0,0.0,11.3:1,0,0:0,0,0:62,42,67:88,109,84:37,0,29:-,NM_178504.4(DNAH12) c.6929+81delA:-,NOT_FOUND:-,0.06191 3 57388157 . C . . NT END=57389035;NT GT ./. 3 57389229 . C . . NT END=57390695;NT GT ./. 3 57390875 . C . . NT END=57391379;NT GT ./. 3 57391284 rs372272200 GTTCA G 58 nt VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=337;PC=0.005;Gene=DNAH12/NM_001291661.1/1;CC=c.6588+92_6588+95delTGAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTTCA,G:31:29:0:19:12,19:421,583:0.00,58.37:0.00,55.33:0.00,3.05:0.00,1.00:0.00,1.00:0.00,0.95:60,60:6.3,13.4:0,0:0,0:34,27:116,121:28,13:-,NM_178504.4(DNAH12) c.6519+92_6519+95delTGAA:-,0.25:-,NOT_FOUND 3 57391680 . C . . NT END=57394006;NT GT ./. 3 57394263 . C . . NT END=57399472;NT GT ./. 3 57394473 . C CG 24 idl,nt VT=INS;SST=Single;DP=15;Gene=DNAH12/NM_001291661.1/1;CC=c.6033-212_6033-211insC;VC=Intron;DM=DNAH12/AAA_7;DM=DNAH12/AAA_7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:C,T,CG:15:0:8:0:6,1,8:188,11,243:0.00,0.33,23.95:0.00,0.00,0.00:0.00,0.33,23.95:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:1.8,11.0,3.9:0,0,8:0,0,0:105,136,68:45,15,82:32,0,23:-,NM_178504.4(DNAH12) c.5964-212_5964-211insC:-,NOT_FOUND:-,NOT_FOUND 3 57394474 . TGGAATGAC T 24 idl,nt VT=DEL;SST=Single;DP=13;Gene=DNAH12/NM_001291661.1/1;CC=c.6033-220_6033-213delGTCATTCC;VC=Intron;DM=DNAH12/AAA_7;DM=DNAH12/AAA_7;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:164:TGGAATGAC,T:13:0:0:8:5,8:166,241:0.00,24.15:0.00,0.00:0.00,24.15:0.00,1.00:0.00,0.00:0.00,1.00:60,60:4.4,3.9:0,8:0,0:77,70:73,80:59,23:-,NM_178504.4(DNAH12) c.5964-220_5964-213delGTCATTCC:-,NOT_FOUND:-,NOT_FOUND 3 57399203 rs7648660 T A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1801,A/0.8199;Gene=DNAH12/NM_001291661.1/1;CC=c.6032+270A>T;VC=Intron;DM=DNAH12/AAA_7;DM=DNAH12/AAA_7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:119:13.80:13.80:0.00:1.00:1.00:0.00:60:49.2:0:0:22:128:5:NM_178504.4(DNAH12) c.5963+270A>T,NM_178504.4(DNAH12) c.5963+270A>T:0.79,0.79:NOT_FOUND,NOT_FOUND 3 57399640 . C . . NT END=57401152;NT GT ./. 3 57400933 . T TA 9 rn VT=INS;SST=Single;DP=9;NP=2;Gene=DNAH12/NM_001291661.1/1;CC=c.5865+219dupT;VC=Intron;DM=DNAH12/AAA_7;DM=DNAH12/AAA_7;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:T,TA:8:9:4:0:5,3:164,130:0.00,8.92:0.00,8.92:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:6.4,2.0:0,1:0,0:42,23:108,127:25,12:-,NM_178504.4(DNAH12) c.5796+219_5796+220insT:-,NOT_FOUND:-,NOT_FOUND 3 57401292 . C . . NT END=57405093;NT GT ./. 3 57405246 . C . . NT END=57407244;NT GT ./. 3 57407457 . C . . NT END=57414065;NT GT ./. 3 57414097 rs17793014 T A 86 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=T/0.7626,A/0.2374;PC=0.061;Gene=DNAH12/NM_001291661.1/1;CC=c.5331A>T;ProtCh=p.K1777N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:67:47:0:0:29,38:921,1207:86.02,0.00:56.14,0.00:29.88,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,8.7:0,0:0,0:83,82:67,68:39,39:NM_178504.4(DNAH12) c.5262A>T (p.Lys1754Asn),-:0.27,-:NOT_FOUND,- 3 57414192 . C . . NT END=57414376;NT GT ./. 3 57414330 rs11915740 C A 107 nt VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.7674,A/0.2326;Gene=DNAH12/NM_001291661.1/1;CC=c.5236+47G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:64:37:0:0:36,28:1092,938:107.24,0.00:64.38,0.00:42.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.6,10.1:0,0:0,0:69,78:81,72:42,47:NM_178504.4(DNAH12) c.5167+47G>T,-:0.26,-:0.346036,- 3 57414549 . C . . NT END=57415417;NT GT ./. 3 57415502 . C . . NT END=57419093;NT GT ./. 3 57418901 rs541282255 C CA 20 idl,rn VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5401,CA/0.4599;DB;DBA=NA;PAF=C/0.5401,CA/0.4599;DB;DBA=NA;PAF=C/0.5401,CA/0.4599;NP=31;PC=0.008;Gene=DNAH12/NM_001291661.1/1;CC=c.4980+192dupT;VC=Intron;DM=DNAH12/AAA_5;DM=DNAH12/AAA_5;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:117:C,CA,D:16:19:8:5:6,7,3:205,240,164:0.00,20.10,8.48:0.00,20.10,8.48:0.00,0.00,0.00:0.00,0.98,0.00:0.00,0.98,0.00:0.00,0.00,0.00:60,60,60:0.0,19.0,3.7:0,1,2:0,0,0:43,21,31:107,130,120:14,12,19:-,NM_178504.4(DNAH12) c.4911+192_4911+193insT:-,NOT_FOUND:-,NOT_FOUND 3 57419235 . C . . NT END=57419371;NT GT ./. 3 57419497 rs6773904 C T 179 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=102;DB;DBA=NA;PAF=C/0.5958,T/0.4042;PC=1.000;Gene=DNAH12/NM_001291661.1/1;CC=c.4714G>A;ProtCh=p.D1572N;VC=Missense;DM=DNAH12/AAA_5;DM=DNAH12/AAA_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:102:54:0:0:45,57:1395,1818:0.00,178.65:0.00,65.28:0.00,113.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,38.0:0,0:0,0:82,83:69,62:42,39:-,NM_178504.4(DNAH12) c.4645G>A (p.Asp1549Asn):-,0.42:-,0.402102 3 57419556 . C . . NT END=57422677;NT GT ./. 3 57422788 . C . . NT END=57430423;NT GT ./. 3 57422824 rs4234394 A G 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.51,G/0.49;Gene=DNAH12/NM_001291661.1/1;CC=c.4546-37T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:12:0:0:16,24:506,787:0.00,78.44:0.00,19.52:0.00,58.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.3,45.5:0,0:0,0:105,100:45,43:26,35:-,NM_178504.4(DNAH12) c.4477-37T>C:-,0.49:-,0.479343 3 57430544 . C . . NT END=57430900;NT GT ./. 3 57430988 rs6768943 G A 174 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.5791,A/0.4209;PC=0.969;Gene=DNAH12/NM_001291661.1/1;CC=c.4338C>T;ProtCh=p.Y1446=;VC=Silent;DM=DNAH12/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:99:66:0:0:53,46:1782,1416:173.90,0.00:107.10,0.00:66.80,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,4.8:0,0:0,0:81,70:70,80:33,33:NM_178504.4(DNAH12) c.4269C>T (p.(=)),-:0.43,-:0.428603,- 3 57431147 . C . . NT END=57431757;NT GT ./. 3 57431275 rs569438551 A AT 32 rn VT=INS;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.5948,AT/0.4052;DB;DBA=NA;PAF=A/0.5948,AT/0.4052;DB;DBA=NA;PAF=A/0.5948,AT/0.4052;DB;DBA=NA;PAF=A/0.5948,AT/0.4052;NP=130;Gene=DNAH12/NM_001291661.1/1;CC=c.4180-130dupA;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,AT:35:2:11:0:22,2,11:689,67,361:0.00,4.61,32.22:0.00,-0.03,-0.16:0.00,4.63,32.39:0.00,0.00,1.00:0.00,0.00,0.61:0.00,0.00,1.00:60,60,60:8.3,94.0,0.8:0,1,0:0,0,0:132,81,99:19,69,52:10,32,22:-,NM_178504.4(DNAH12) c.4111-130_4111-129insA:-,NOT_FOUND:-,NOT_FOUND 3 57431423 . C CTT 17 nt VT=INS;SST=Single;DP=11;NP=478;PC=0.397;Gene=DNAH12/NM_001291661.1/1;CC=c.4180-278_4180-277insAA;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:152:C,CTT:11:3:6:0:5,6:148,179:0.00,17.48:0.00,6.59:0.00,10.90:0.00,0.98:0.00,0.91:0.00,1.00:60,60:22.4,48.7:0,0:0,0:98,65:53,84:48,39:-,NM_178504.4(DNAH12) c.4111-278_4111-277insAA:-,NOT_FOUND:-,NOT_FOUND 3 57431453 rs3856704 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5555,C/0.4445;Gene=DNAH12/NM_001291661.1/1;CC=c.4179+305A>G;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:75:C,T:9:3:0:0:6,3:188,79:19.20,0.00:7.02,0.00:12.17,0.00:0.99,0.00:0.97,0.00:0.93,0.00:60,60:33.8,30.0:0,0:0,0:72,78:77,72:32,16:NM_178504.4(DNAH12) c.4110+305A>G,-:0.45,-:NOT_FOUND,- 3 57431740 rs139063171 ATAAATAAATAAT A 71 nt VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=ATAAATAAATAAT/0.1739,A/0.8261;NP=252;PC=0.202;Gene=DNAH12/NM_001291661.1/1;CC=c.4179+6_4179+17delATTATTTATTTA;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:ATAAATAAATAAT,A:54:49:0:24:30,24:985,760:0.00,71.34:0.00,61.77:0.00,9.56:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,4.8:0,0:0,0:32,61:111,87:23,22:-,NM_178504.4(DNAH12) c.4110+6_4110+17delATTATTTATTTA:-,NOT_FOUND:-,0.53276 3 57431752 rs2166762 T A 32 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=NA;NP=43;PC=0.202;Gene=DNAH12/NM_001291661.1/1;CC=c.4179+6A>T;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:40:33:0:25:12,28:370,918:32.11,0.00:22.39,0.00:9.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:30.8,4.1:0,0:0,0:8,52:142,98:5,31:NM_178504.4(DNAH12) c.4110+6A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 57431985 rs2121743 G A 177 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=113;DB;DBA=NA;PAF=G/0.5749,A/0.4251;PC=0.770;Gene=DNAH12/NM_001291661.1/1;CC=c.3952C>T;ProtCh=p.L1318=;VC=Silent;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:113:63:0:0:58,55:1838,1821:177.42,0.00:67.33,0.00:110.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:53.0,5.0:0,0:0,0:89,87:49,59:45,40:NM_178504.4(DNAH12) c.3883C>T (p.(=)),-:0.44,-:0.434078,- 3 57431998 . C . . NT END=57432263;NT GT ./. 3 57432064 rs2121742 C T 143 nt VT=SNV;PN=A;NN=C;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.5923,T/0.4077;Gene=DNAH12/NM_001291661.1/1;CC=c.3940-67G>A;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:90:34:0:0:1,42,47:9,1341,1473:-0.12,0.00,142.94:-0.07,0.00,39.73:-0.05,0.00,103.20:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.0,7.3,57.4:0,0,0:0,0,0:77,91,87:73,57,58:0,30,23:-,NM_178504.4(DNAH12) c.3871-67G>A:-,0.42:-,NOT_FOUND 3 57432417 . C . . NT END=57438569;NT GT ./. 3 57432594 rs9855744 C T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5923,T/0.4077;Gene=DNAH12/NM_001291661.1/1;CC=c.3787-178G>A;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:10,6:246,207:0.00,19.01:0.00,0.00:0.00,19.01:0.00,0.95:0.00,0.00:0.00,0.95:60,60:29.1,72.3:0,0:0,0:106,110:45,40:27,18:-,NM_178504.4(DNAH12) c.3718-178G>A:-,0.41:-,NOT_FOUND 3 57432609 rs9855748 C A 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5923,A/0.4077;Gene=DNAH12/NM_001291661.1/1;CC=c.3787-193G>T;VC=Intron;DM=DNAH12/AAA_6;DM=DNAH12/AAA_6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:177:A,C:13:0:0:0:6,7:172,193:16.13,0.00:0.00,0.00:16.13,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:82.7,22.0:0,0:0,0:112,120:37,31:15,26:NM_178504.4(DNAH12) c.3718-193G>T,-:0.42,-:NOT_FOUND,- 3 57438743 . C . . NT END=57438973;NT GT ./. 3 57439131 . C . . NT END=57440501;NT GT ./. 3 57439356 rs6445882 G A 24 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3814,A/0.6186;PC=0.003;Gene=DNAH12/NM_001291661.1/1;CC=c.3457-226C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:162:A,G:12:0:0:0:7,5:246,161:24.40,0.00:0.00,0.00:24.40,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:59.0,12.8:0,0:0,0:118,127:29,24:13,15:NM_178504.4(DNAH12) c.3388-226C>T,-:0.62,-:NOT_FOUND,- 3 57440622 . C . . NT END=57443447;NT GT ./. 3 57443731 . C . . NT END=57443825;NT GT ./. 3 57443817 rs6768661 T C 136 nt VT=SNV;PN=T;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=T/0.3676,C/0.6324;Gene=DNAH12/NM_001291661.1/1;CC=c.3053+9A>G;VC=Intron;DM=DNAH12/DHC_N2;DM=DNAH12/DHC_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:87:52:0:0:43,44:1416,1377:135.93,0.00:67.88,0.00:68.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,7.6:0,0:0,0:82,62:69,80:26,33:NM_178504.4(DNAH12) c.2984+9A>G,-:0.62,-:0.6682,- 3 57443948 . C . . NT END=57445318;NT GT ./. 3 57445514 . C . . NT END=57447215;NT GT ./. 3 57447417 . C . . NT END=57448416;NT GT ./. 3 57448566 . C . . NT END=57454494;NT GT ./. 3 57454707 . C . . NT END=57456169;NT GT ./. 3 57456093 rs576664958 C CA 19 rn VT=INS;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5795,CA/0.4205;DB;DBA=NA;PAF=C/0.5795,CA/0.4205,CAA/.;NP=349;NP=4;PC=0.024;Gene=DNAH12/NM_001291661.1/1;CC=c.2105+76_2105+77insT;VC=Intron;DM=DNAH12/DHC_N2;DM=DNAH12/DHC_N2;DM=DNAH12/Dynein_heavy;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,C,CA,D:26:26:8:1:1,17,7,1:10,525,248,34:0.01,0.00,18.52,2.17:-0.26,0.00,17.01,2.19:0.28,0.00,1.52,-0.02:0.00,0.00,0.96,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.70,0.00:60,60,60,60:224.0,12.5,8.3,0.0:0,0,1,0:0,0,0,0:19,39,80,85:128,112,70,66:0,22,45,0:-,NM_178504.4(DNAH12) c.2105+76_2105+77insT:-,NOT_FOUND:-,NOT_FOUND 3 57456364 . C . . NT END=57457198;NT GT ./. 3 57456371 rs9871422 T C 72 nt VT=SNV;PN=G;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=T/0.3684,A/.,C/0.6316;PC=0.033;Gene=DNAH12/NM_001291661.1/1;CC=c.1912-8A>G;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:59:19:0:0:24,35:779,1065:72.01,0.00:14.70,0.00:57.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.9,13.0:0,0:0,0:82,106:68,41:27,25:NM_178504.4(DNAH12) c.1912-8A>G,-:0.62,-:0.668423,- 3 57457123 rs6445886 C T 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.3684,T/0.6316;Gene=DNAH12/NM_001291661.1/1;CC=c.1911+76G>A;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:53:45:0:0:32,21:974,675:0.00,62.10:0.00,54.27:0.00,7.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,40.1:0,0:0,0:31,39:120,105:18,30:-,NM_178504.4(DNAH12) c.1911+76G>A:-,0.62:-,NOT_FOUND 3 57457334 . C . . NT END=57458272;NT GT ./. 3 57457440 rs6445887 A C 30 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.3684,C/0.6316;PC=0.061;Gene=DNAH12/NM_001291661.1/1;CC=c.1777-107T>G;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:26:4:0:0:15,11:417,328:0.00,30.35:0.00,10.36:0.00,19.99:0.00,1.00:0.00,0.89:0.00,1.00:60,60:24.5,35.5:0,0:0,0:128,125:22,26:4,18:-,NM_178504.4(DNAH12) c.1777-107T>G:-,0.62:-,NOT_FOUND 3 57458399 . C . . NT END=57469102;NT GT ./. 3 57469053 rs9826084 A C 66 nt VT=SNV;PN=T;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=A/0.3684,C/0.6316;Gene=DNAH12/NM_001291661.1/1;CC=c.1650+50T>G;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:52:47:0:0:31,21:990,711:0.00,65.90:0.00,54.52:0.00,11.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,64.0:0,0:0,0:36,39:114,111:22,16:-,NM_178504.4(DNAH12) c.1650+50T>G:-,0.62:-,0.667251 3 57469097 rs9863860 C T 109 nt VT=SNV;PN=T;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.3684,T/0.6316;PC=0.032;Gene=DNAH12/NM_001291661.1/1;CC=c.1650+6G>A;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:74:61:0:0:39,35:1223,1145:0.00,108.99:0.00,74.57:0.00,34.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,51.1:0,0:0,0:58,43:91,102:22,22:-,NM_178504.4(DNAH12) c.1650+6G>A:-,0.62:-,0.659001 3 57469239 . C . . NT END=57475235;NT GT ./. 3 57469272 rs9864150 C T 86 nt VT=SNV;PN=G;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=C/0.3684,T/0.6316;Gene=DNAH12/NM_001291661.1/1;CC=c.1515-34G>A;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:61:21:0:0:33,28:1077,909:0.00,85.99:0.00,9.42:0.00,76.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.0,41.6:0,0:0,0:95,102:55,49:25,31:-,NM_178504.4(DNAH12) c.1515-34G>A:-,0.62:-,0.667544 3 57469348 rs77801236 A AT 32 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.9704,T/0.02955;NP=819;PC=0.159;Gene=DNAH12/NM_001291661.1/1;CC=c.1515-111_1515-110insA;VC=Intron;DM=DNAH12/Dynein_heavy;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:24:3:11:0:13,11:391,341:0.00,32.18:0.00,3.02:0.00,29.16:0.00,1.00:0.00,0.85:0.00,1.00:60,60:23.8,29.9:0,0:0,0:107,112:42,39:34,18:-,NM_178504.4(DNAH12) c.1515-111_1515-110insA:-,0.62:-,NOT_FOUND 3 57475351 rs6806444 T G 90 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.3664,C/.,G/0.6336;PC=1.000;Gene=DNAH12/NM_001291661.1/1;CC=c.1399A>C;ProtCh=p.T467P;VC=Missense;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:69:47:0:0:32,37:957,1165:90.22,0.00:38.00,0.00:52.23,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.0,10.5:0,0:0,0:78,68:72,83:31,31:NM_178504.4(DNAH12) c.1399A>C (p.Thr467Pro),-:0.62,-:0.668638,- 3 57475415 . C . . NT END=57487047;NT GT ./. 3 57475436 . G GA 8 rn VT=INS;SST=Single;DP=49;NP=1;Gene=DNAH12/NM_001291661.1/1;CC=c.1336-23dupT;VC=Intron;DM=DNAH12/Dynein_heavy;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:G,GA:49:20:4:0:45,4:1492,124:0.00,8.30:0.00,0.84:0.00,7.45:0.00,0.56:0.00,0.70:0.00,0.90:60,60:17.6,46.5:0,0:0,0:95,108:50,43:28,15:-,NM_178504.4(DNAH12) c.1336-23_1336-22insT:-,NOT_FOUND:-,NOT_FOUND 3 57487140 . C . . NT END=57488049;NT GT ./. 3 57487766 rs9881849 C T 7 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3339,T/0.6661;PC=0.045;Gene=DNAH12/NM_001291661.1/1;CC=c.1243+284G>A;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.1243+284G>A;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,T:5:5:0:0:3,2:87,71:0.00,6.59:0.00,6.59:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,52:0.0,52.5:0,0:0,0:44,36:107,112:36,18:-,NM_178504.4(DNAH12) c.1243+284G>A:-,0.6:-,NOT_FOUND 3 57488207 . C . . NT END=57489742;NT GT ./. 3 57488279 rs10662782 T TTTC 67 nt VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.3684,TCTT/.,TTTC/0.6316;NP=1365;PC=0.002;Gene=DNAH12/NM_001291661.1/1;CC=c.1087-74_1087-73insGAA;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.1087-74_1087-73insGAA;VC=Intron;DM=DNAH12/Dynein_heavy;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTC:34:12:21:0:13,21:413,665:0.00,66.69:0.00,9.36:0.00,57.34:0.00,1.00:0.00,1.00:0.00,1.00:60,70:6.3,7.4:2,0:0,0:127,104:24,46:19,26:-,NM_178504.4(DNAH12) c.1087-74_1087-73insGAA:-,NOT_FOUND:-,NOT_FOUND 3 57488421 rs6769357 C T 7 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5929,T/0.4071;PC=0.003;Gene=DNAH12/NM_001291661.1/1;CC=c.1087-215G>A;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.1087-215G>A;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:C,T:8:0:0:0:5,3:150,80:0.00,7.12:0.00,0.00:0.00,7.12:0.00,0.67:0.00,0.00:0.00,0.67:60,60:33.2,62.0:0,0:0,0:133,106:17,44:5,21:-,NM_178504.4(DNAH12) c.1087-215G>A:-,0.4:-,NOT_FOUND 3 57489591 rs4681992 C A 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5347,A/0.4653;PC=0.004;Gene=DNAH12/NM_001291661.1/1;CC=c.1086+152G>T;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.1086+152G>T;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:153:A,C:13:13:0:0:8,5:270,155:27.07,0.00:27.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:36.2,11.6:0,0:0,0:38,73:112,78:19,3:NM_178504.4(DNAH12) c.1086+152G>T,-:0.47,-:NOT_FOUND,- 3 57489932 . C . . NT END=57493369;NT GT ./. 3 57493566 . C . . NT END=57494108;NT GT ./. 3 57493927 rs538875284 CA C 13 rn VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=CA/0.4087,C/0.5913;DB;DBA=NA;PAF=CA/0.4087,C/0.5913;NP=23;Gene=DNAH12/NM_001291661.1/1;CC=c.701+181delT;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.701+181delT;VC=Intron;DM=DNAH12/Dynein_heavy;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:CA,I,C:15:15:1:5:9,1,5:296,34,148:0.00,2.43,13.21:0.00,2.43,13.21:0.00,0.00,0.00:0.00,0.00,0.89:0.00,0.00,0.89:0.00,0.00,0.00:60,60,60:15.4,0.0,41.2:0,0,0:0,0,0:80,83,14:70,68,137:59,0,11:-,NM_178504.4(DNAH12) c.701+181delT:-,NOT_FOUND:-,NOT_FOUND 3 57493989 rs13072470 T A 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.5897,A/0.4103;PC=0.001;Gene=DNAH12/NM_001291661.1/1;CC=c.701+120A>T;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.701+120A>T;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:24:24:0:0:11,13:354,397:33.48,0.00:33.61,0.00:-0.13,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:41.5,12.2:0,0:0,0:61,63:90,86:11,25:NM_178504.4(DNAH12) c.701+120A>T,-:0.42,-:NOT_FOUND,- 3 57494268 . C . . NT END=57494866;NT GT ./. 3 57494433 rs79294353 A C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9577,C/0.04233;PC=0.980;Gene=DNAH12/NM_001291661.1/1;CC=c.543-166T>G;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.543-166T>G;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:1:0:0:11,8:363,265:0.00,24.70:0.00,-0.24:0.00,24.94:0.00,0.99:0.00,0.61:0.00,1.00:60,60:20.6,42.6:0,0:0,0:115,115:36,36:18,31:-,NM_178504.4(DNAH12) c.543-166T>G:-,0.05:-,NOT_FOUND 3 57494940 . C . . NT END=57496516;NT GT ./. 3 57496707 . C . . NT END=57509309;NT GT ./. 3 57505772 rs9818773 T C 36 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6096,C/0.3904;PC=0.898;Gene=DNAH12/NM_001291661.1/1;CC=c.279+3538A>G;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.279+3538A>G;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,T:16:4:0:0:11,5:347,146:35.65,0.00:5.52,0.00:30.13,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:39.3,15.0:0,0:0,0:133,91:18,33:13,22:NM_178504.4(DNAH12) c.279+3538A>G,-:0.38,-:NOT_FOUND,- 3 57505802 rs117543139 T TGGAGCCGCCCGTCG 11 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.2059,TCCCCCCCGTCG/.,TGGAGCCGCCCGTCG/0.7941;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.273;Gene=DNAH12/NM_001291661.1/1;CC=c.279+3507_279+3508insCGACGGGCGGCTCC;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.279+3507_279+3508insCGACGGGCGGCTCC;VC=Intron;DM=DNAH12/Dynein_heavy;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:T,TGGAGCCGCCCGTCG:9:1:4:0:5,4:169,121:0.00,11.32:0.00,1.71:0.00,9.61:0.00,0.85:0.00,0.63:0.00,0.85:60,60:28.2,29.2:0,0:0,0:115,84:35,66:13,18:-,NM_178504.4(DNAH12) c.279+3507_279+3508insCGACGGGCGGCTCC:-,NOT_FOUND:-,NOT_FOUND 3 57509103 rs6768974 T C 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1737,C/0.8263;PC=0.001;Gene=DNAH12/NM_001291661.1/1;CC=c.279+207A>G;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.279+207A>G;VC=Intron;DM=DNAH12/Dynein_heavy GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:C,T:4:4:0:0:2,2:66,30:6.38,0.00:6.38,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:33.0,108.5:0,0:0,0:68,23:83,127:22,13:NM_178504.4(DNAH12) c.279+207A>G,-:0.79,-:NOT_FOUND,- 3 57509337 . C . . NT END=57509529;NT GT ./. 3 57509612 . C . . NT END=57528427;NT GT ./. 3 57516274 rs9825059 G T 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.5952,T/0.4048;PC=1.000;Gene=DNAH12/NM_001291661.1/1;CC=c.171-6663C>A;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.171-6663C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:G,T:13:6:0:0:8,5:246,158:0.00,14.42:0.00,4.47:0.00,9.96:0.00,0.91:0.00,0.93:0.00,0.99:60,60:9.9,38.8:0,0:0,0:111,106:35,12:19,11:-,NM_178504.4(DNAH12) c.171-6663C>A:-,0.41:-,NOT_FOUND 3 57528215 rs11710515 C T 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.1953,T/0.8047;PC=0.002;Gene=DNAH12/NM_001291661.1/1;CC=c.170+213G>A;VC=Intron;Gene=DNAH12/NM_198564.3/0;CC=c.170+213G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,T:7:7:0:0:2,5:71,163:0.00,16.87:0.00,16.87:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,65.2:0,0:0,0:37,56:113,95:8,7:-,NM_178504.4(DNAH12) c.170+213G>A:-,0.76:-,NOT_FOUND 3 57528598 . C . . NT END=57542106;NT GT ./. 3 57542173 rs2241988 C T 257 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=182;DB;DBA=NA;PAF=C/0.612,G/.,T/0.388;PC=0.978;Gene=PDE12/NM_177966.5/1;CC=c.67C>T;ProtCh=p.R23W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:182:125:0:0:1,99,1,81:11,3054,5,2717:-0.15,0.00,-0.20,256.63:-0.11,0.00,-0.10,120.15:-0.03,0.00,-0.10,136.48:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:102.0,8.1,5.0,39.2:0,0,0,0:0,0,0,0:50,74,52,78:101,73,99,62:0,42,0,33:-,NM_177966.5(PDE12) c.67C>T (p.Arg23Trp):-,0.39:-,0.353254 3 57543415 . G . . NT END=57545036;NT GT ./. 3 57544841 rs4681999 C G 10 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1981,G/0.8019;PC=0.015;Gene=PDE12/NM_177966.5/1;CC=c.1309-196C>G;VC=Intron;DM=PDE12/Exo_endo_phos;DM=PDE12/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:114:C,G:9:9:0:0:4,5:131,106:0.00,10.20:0.00,10.37:0.00,-0.18:0.00,0.96:0.00,0.96:0.00,0.70:60,60:2.5,25.6:0,0:0,0:72,17:78,133:33,15:-,NM_177966.5(PDE12) c.1309-196C>G:-,0.75:-,NOT_FOUND 3 57545116 . G . . NT END=57545288;NT GT ./. 3 57546053 . t . . NT END=57546332;NT GT ./. 3 57546198 rs1979074 G A 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.6118,A/0.3882;PC=0.005;Gene=PDE12/NM_177966.5/1;CC=c.*467G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:30:14:0:0:16,14:525,436:51.13,0.00:14.91,0.00:36.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,21.5:0,0:0,0:107,80:44,70:31,35:NM_177966.5(PDE12) c.*467G>A,-:0.38,-:NOT_FOUND,- 3 57547769 . T . . NT END=57557938;NT GT ./. 3 57547999 rs181580641 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=1;PC=0.160 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:8:0:0:0:3,5:93,152:0.00,15.29:0.00,0.00:0.00,15.29:0.00,0.97:0.00,0.00:0.00,0.97:60,60:10.0,50.6:0,0:0,0:107,139:44,12:17,9:-,chr3 g.57547998C>T (intergenic):-,0.0009:-,NOT_FOUND 3 57558026 . C . . NT END=57561274;NT GT ./. 3 57561032 rs397989752 CA C 7 idl,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CA/0.508,C/0.492;DB;DBA=NA;PAF=CA/0.508,C/0.492;NP=42;Gene=ARF4/NM_001660.3/1;CC=c.456+242delT;VC=Intron;DM=ARF4/Arf;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:C:2:4:0:4:2:129:6.75:6.75:0.00:0.51:0.51:0.00:60:27.5:2:0:47:102:8:NM_001660.3(ARF4) c.456+242delT,NM_001660.3(ARF4) c.456+242delT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 57561401 . C . . NT END=57563042;NT GT ./. 3 57561598 rs6808217 A G 27 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.224,G/0.776;PC=0.844;Gene=ARF4/NM_001660.3/1;CC=c.331-198T>C;VC=Intron;DM=ARF4/Arf;DM=ARF4/Arf;DM=ARF4/Arf GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:234:26.74:0.00:26.74:1.00:0.00:1.00:60:34.1:0:0:99:52:22:NM_001660.3(ARF4) c.331-198T>C,NM_001660.3(ARF4) c.331-198T>C:0.79,0.79:NOT_FOUND,NOT_FOUND 3 57563115 . C . . NT END=57569624;NT GT ./. 3 57563120 rs80155592 GA G 24 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=GA/0.8041,G/0.1959;DB;DBA=NA;PAF=GA/0.8041,G/0.1959;NP=1199;PC=0.181;Gene=ARF4/NM_001660.3/1;CC=c.259-7delT;VC=Intron;DM=ARF4/Arf;DM=ARF4/Arf;DM=ARF4/Arf;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,G:26:17:0:9:17,9:553,272:0.00,24.21:0.00,5.99:0.00,18.22:0.00,0.99:0.00,1.00:0.00,1.00:60,70:10.8,13.8:0,0:0,0:79,62:71,75:28,21:-,NM_001660.3(ARF4) c.259-7delT:-,NOT_FOUND:-,0.146349 3 57569735 . C . . NT END=57570110;NT GT ./. 3 57570192 . C . . NT END=57582800;NT GT ./. 3 57582718 rs57877028 GAAA G 9 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1688;Gene=ARF4/NM_001660.3/1;CC=c.67+80_67+82delTTT;VC=Intron;DM=ARF4/Arf;DM=ARF4/Arf;DM=ARF4/Arf;DM=ARF4/Arf;DM=ARF4/Arf;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:GAAA,G:10:10:0:3:7,3:218,98:0.00,8.58:0.00,7.00:0.00,1.58:0.00,0.62:0.00,0.62:0.00,0.53:60,60:3.4,4.7:0,0:0,0:7,48:142,101:4,11:-,NM_001660.3(ARF4) c.67+80_67+82delTTT:-,NOT_FOUND:-,NOT_FOUND 3 57582868 . G . . NT END=57613940;NT GT ./. 3 57613814 rs77006676 CTG C 56 nt VT=DEL;SST=Single;DP=34;DB;DBA=NA;PAF=CTG/0.8031,C/0.1969;DB;DBA=NA;PAF=CTG/0.8031,C/0.1969;NP=1025;PC=0.877;Gene=DENND6A/NM_152678.2/1;CC=c.*125_*126delCA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTG,C:34:34:0:18:16,18:515,577:0.00,56.07:0.00,56.24:0.00,-0.16:0.00,1.00:0.00,1.00:0.00,0.69:60,60:9.0,8.7:0,0:0,0:31,34:119,117:17,17:-,NM_152678.2(DENND6A) c.*125_*126delCA:-,0.24:-,NOT_FOUND 3 57614073 . C . . NT END=57614537;NT GT ./. 3 57614613 . C . . NT END=57616147;NT GT ./. 3 57615975 rs67587259 TTATC T 11 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=TTATC/0.6114,T/0.3886;DB;DBA=NA;PAF=TTATC/0.6114,T/0.3886;NP=468;Gene=DENND6A/NM_152678.2/1;CC=c.1620+169_1620+172delGATA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:TTATC,T:11:11:0:4:7,4:203,126:0.00,11.39:0.00,11.39:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:4.1,0.0:0,0:0,0:86,37:65,113:20,20:-,NM_152678.2(DENND6A) c.1620+169_1620+172delGATA:-,0.39:-,NOT_FOUND 3 57616251 . C . . NT END=57616441;NT GT ./. 3 57616552 . C . . NT END=57616651;NT GT ./. 3 57616706 . C . . NT END=57618991;NT GT ./. 3 57619082 . C . . NT END=57620284;NT GT ./. 3 57620350 . C . . NT END=57620430;NT GT ./. 3 57620497 . C . . NT END=57627379;NT GT ./. 3 57627475 . C . . NT END=57631387;NT GT ./. 3 57627500 rs9873675 T C 120 nt VT=SNV;PN=A;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.142,C/0.858;Gene=DENND6A/NM_152678.2/1;CC=c.1038-26A>G;VC=Intron;DM=DENND6A/SPA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:16:0:0:32:1044:119.59:39.12:80.47:1.00:1.00:1.00:60:61.3:0:0:97:50:17:NM_152678.2(DENND6A) c.1038-26A>G,NM_152678.2(DENND6A) c.1038-26A>G:0.86,0.86:0.813317,0.813317 3 57627580 rs9816093 A C 50 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.142,C/0.858;Gene=DENND6A/NM_152678.2/1;CC=c.1038-106T>G;VC=Intron;DM=DENND6A/SPA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:C:14:0:0:0:14:431:49.75:0.00:49.75:1.00:0.00:1.00:60:77.6:0:0:89:61:51:NM_152678.2(DENND6A) c.1038-106T>G,NM_152678.2(DENND6A) c.1038-106T>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 57631484 . C . . NT END=57632042;NT GT ./. 3 57632166 . C . . NT END=57640350;NT GT ./. 3 57640521 . G . . NT END=57643406;NT GT ./. 3 57643463 . C . . NT END=57644844;NT GT ./. 3 57644908 . C . . NT END=57646486;NT GT ./. 3 57646329 rs6445918 T G 64 nt VT=SNV;PN=G;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2428,G/0.7572;Gene=DENND6A/NM_152678.2/1;CC=c.699+158A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:17:0:0:18:558:64.38:61.30:3.08:1.00:1.00:1.00:60:39.2:0:0:57:93:25:NM_152678.2(DENND6A) c.699+158A>C,NM_152678.2(DENND6A) c.699+158A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 3 57646567 . C . . NT END=57647172;NT GT ./. 3 57647279 . C . . NT END=57649362;NT GT ./. 3 57649140 rs2123207 G A 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6124,A/0.3876;Gene=DENND6A/NM_152678.2/1;CC=c.513+223C>T;VC=Intron;DM=DENND6A/Avl9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:5:5:0:0:3,2:102,53:10.17,0.00:10.17,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:36.3,81.5:0,0:0,0:87,16:63,133:45,12:NM_152678.2(DENND6A) c.513+223C>T,-:0.39,-:NOT_FOUND,- 3 57649216 rs28367170 T A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.63,A/0.37;NP=75;Gene=DENND6A/NM_152678.2/1;CC=c.513+147A>T;VC=Intron;DM=DENND6A/Avl9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,T:9:9:0:0:5,4:87,95:8.34,0.00:8.34,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:136.8,104.2:0,0:0,0:48,66:89,85:14,23:NM_152678.2(DENND6A) c.513+147A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 57649268 . T A 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;PC=0.985;Gene=DENND6A/NM_152678.2/1;CC=c.513+95A>T;VC=Intron;DM=DENND6A/Avl9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:A,T:13:13:0:0:5,8:79,250:6.47,0.00:6.47,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:138.6,44.0:0,0:0,0:114,34:28,116:14,26:NM_152678.2(DENND6A) c.513+95A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 57649444 . C . . NT END=57651849;NT GT ./. 3 57651963 . C . . NT END=57657982;NT GT ./. 3 57658026 . C . . NT END=57658126;NT GT ./. 3 57658166 . C . . NT END=57665213;NT GT ./. 3 57665319 . g . . NT END=57678508;NT GT ./. 3 57678746 . C . . NT END=57743378;NT GT ./. 3 57679051 rs9821226 A T 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.612,T/0.388 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,T:6:0:0:0:3,3:103,97:0.00,9.32:0.00,0.00:0.00,9.32:0.00,0.73:0.00,0.00:0.00,0.73:60,60:6.7,42.0:0,0:0,0:125,125:26,26:19,1:-,NM_152678.2(DENND6A) c.-71-u235T>A:-,0.39:-,NOT_FOUND 3 57701948 rs201559628 ACAAC A 18 idl,nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2;PC=0.276;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:10:5:249:17.96:3.77:14.19:0.97:0.99:0.99:70:42.8:3:0:77:73:16:chr3 g.57701949_57701952delCAAC (intergenic),chr3 g.57701949_57701952delCAAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 57702002 rs4681752 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.9866,C/0.01338;PC=0.049 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:99:C,T:9:6:0:0:5,4:163,97:16.02,0.00:4.32,0.00:11.70,0.00:0.96,0.00:0.99,0.00:0.98,0.00:70,60:32.6,22.2:0,0:0,0:115,115:36,34:33,12:chr3 g.57702001T>C (intergenic),-:0.02,-:NOT_FOUND,- 3 57743337 rs13400 C G 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.8075,G/0.1925;PC=1.000;Gene=SLMAP/NM_001304420.2/0;CC=c.-42C>G;VC=5UTR;Gene=SLMAP/NM_001304421.2/0;CC=c.-42C>G;VC=5UTR;Gene=SLMAP/NM_007159.4/1;CC=c.-42C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:49:44:0:0:23,24,2:751,728,38:0.00,70.03,1.73:0.00,50.28,0.13:0.00,19.74,1.60:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:10.6,39.2,28.0:1,0,0:0,0,0:51,31,13:98,118,138:29,18,3:-,NM_007159.2(SLMAP) c.=:-,0.23:-,0.141319 3 57743578 . T . . NT END=57817109;NT GT ./. 3 57817265 . T . . NT END=57827025;NT GT ./. 3 57826854 rs12492247 G A 7 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.6715,A/0.3285;PC=0.010;Gene=SLMAP/NM_001304420.2/0;CC=c.347-172G>A;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.347-172G>A;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.347-172G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:4:4:0:0:2,2:69,61:6.65,0.00:6.65,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:34.5,5.5:0,0:0,0:59,40:92,110:31,3:NM_007159.2(SLMAP) c.347-172G>A,-:0.35,-:NOT_FOUND,- 3 57827100 . T . . NT END=57832923;NT GT ./. 3 57832962 . T . . NT END=57835480;NT GT ./. 3 57835545 . T . . NT END=57843459;NT GT ./. 3 57843557 . T . . NT END=57843814;NT GT ./. 3 57843888 . T . . NT END=57846425;NT GT ./. 3 57846568 . T . . NT END=57847675;NT GT ./. 3 57846577 rs2306056 C A 29 nt VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.7714,A/0.2286,T/.;PC=0.374;Gene=SLMAP/NM_001304420.2/0;CC=c.828+11C>A;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.828+11C>A;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.828+11C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:33:18:0:1:10,23:335,724:29.49,0.00:13.77,0.00:15.73,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:33.5,12.2:1,0:0,0:123,72:25,79:7,24:NM_007159.2(SLMAP) c.828+11C>A,-:0.25,-:0.15231,- 3 57847523 rs2361351 T C 12 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8111,C/0.1889;Gene=SLMAP/NM_001304420.2/0;CC=c.829-153T>C;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.829-153T>C;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.829-153T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:C,T:8:8:0:0:4,4:128,133:12.30,0.00:12.30,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:34.5,0.0:0,0:0,0:59,27:92,124:14,20:NM_007159.2(SLMAP) c.829-153T>C,-:0.22,-:NOT_FOUND,- 3 57847815 . T . . NT END=57850274;NT GT ./. 3 57848365 rs72103569 C CA 8 idl,rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;Gene=SLMAP/NM_001304420.2/0;CC=c.966+574_966+575insA;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.966+574_966+575insA;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.966+574_966+575insA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,C,CA:9:10:5:0:2,4,3:65,138,154:5.63,0.00,8.08:2.69,0.00,8.08:2.94,0.00,0.00:0.00,0.00,0.60:0.00,0.00,0.93:0.00,0.00,0.52:60,60,60:88.0,2.5,41.3:2,0,2:0,0,0:46,131,30:101,18,121:2,7,24:-,NM_007159.2(SLMAP) c.966+552_966+553insA:-,NOT_FOUND:-,NOT_FOUND 3 57850445 . T . . NT END=57850533;NT GT ./. 3 57850505 rs549408176 C CT 9 idl,rn VT=INS;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=1;NP=6;PC=0.945;Gene=SLMAP/NM_001304420.2/0;CC=c.1136-17dupT;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.1135+74dupT;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.1135+74dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:C,T,CT,D:47:30:4:4:39,1,4,3:1248,11,131,127:0.00,-0.13,9.22,6.13:0.00,-0.17,5.92,1.97:0.00,0.04,3.31,4.16:0.00,0.00,0.55,0.00:0.00,0.00,0.82,0.00:0.00,0.00,0.87,0.00:60,60,60,60:18.6,34.0,18.5,14.7:0,0,0,1:0,0,0,0:66,134,68,57:84,17,83,93:30,0,35,18:-,NM_007159.2(SLMAP) c.1135+62_1135+63insT:-,NOT_FOUND:-,NOT_FOUND 3 57850586 . T . . NT END=57850968;NT GT ./. 3 57851021 . T . . NT END=57857362;NT GT ./. 3 57857427 . T . . NT END=57875767;NT GT ./. 3 57875874 . T . . NT END=57881973;NT GT ./. 3 57881784 rs35883360 G GT 41 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.1621,GT/.,GTTTTTTTTTA/0.004792,GTTTTTTTTTT/0.8331;NP=693;Gene=SLMAP/NM_001304420.2/0;CC=c.1310-445dupT;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.1196-445dupT;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.1259-445dupT;VC=Intron;Gene=SLMAP/NM_001311179.1/0;CC=c.-89-445dupT;VC=Intron;Gene=SLMAP/NM_001304422.2/0;CC=c.-89-445dupT;VC=Intron;Gene=SLMAP/NM_001304423.2/0;CC=c.-89-445dupT;VC=Intron;Gene=SLMAP/NM_001311178.1/0;CC=c.-89-445dupT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:G,GT:15:16:14:0:2,13:51,391:0.00,41.17:0.00,41.17:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,70:4.0,21.2:0,1:0,0:116,82:34,69:25,46:-,NM_007159.2(SLMAP) c.1259-454_1259-453insT:-,0.84:-,NOT_FOUND 3 57882230 . C . . NT END=57882237;NT GT ./. 3 57882320 . T . . NT END=57882599;NT GT ./. 3 57882601 rs17058639 C T 39 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.7005,T/0.2995;PC=1.000;Gene=SLMAP/NM_001304420.2/0;CC=c.1392C>T;ProtCh=p.D464=;VC=Silent;Gene=SLMAP/NM_001304421.2/0;CC=c.1278C>T;ProtCh=p.D426=;VC=Silent;Gene=SLMAP/NM_007159.4/1;CC=c.1341C>T;ProtCh=p.D447=;VC=Silent;Gene=SLMAP/NM_001311179.1/0;CC=c.-7C>T;VC=5UTR;Gene=SLMAP/NM_001304422.2/0;CC=c.-7C>T;VC=5UTR;Gene=SLMAP/NM_001304423.2/0;CC=c.-7C>T;VC=5UTR;Gene=SLMAP/NM_001311178.1/0;CC=c.-7C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:24:0:0:17,13:519,418:0.00,39.10:0.00,19.61:0.00,19.49:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,33.1:0,0:0,0:41,47:96,75:19,29:-,NM_007159.2(SLMAP) c.1341C>T (p.(=)):-,0.31:-,0.210826 3 57882661 . T . . NT END=57893610;NT GT ./. 3 57893507 rs9864975 A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.633,G/0.367;Gene=SLMAP/NM_001304420.2/0;CC=c.1451-104A>G;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.1337-104A>G;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.1400-104A>G;VC=Intron;Gene=SLMAP/NM_001311179.1/0;CC=c.53-1296A>G;VC=Intron;Gene=SLMAP/NM_001304422.2/0;CC=c.53-104A>G;VC=Intron;Gene=SLMAP/NM_001304423.2/0;CC=c.53-4601A>G;VC=Intron;Gene=SLMAP/NM_001311178.1/0;CC=c.53-104A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,G:25:22:0:0:20,5:562,169:0.00,13.86:0.00,12.65:0.00,1.21:0.00,0.83:0.00,0.98:0.00,0.75:60,60:14.7,33.8:0,0:0,0:28,60:119,91:23,54:-,NM_007159.2(SLMAP) c.1400-104A>G:-,0.36:-,NOT_FOUND 3 57893735 . T . . NT END=57894802;NT GT ./. 3 57894879 . T . . NT END=57898107;NT GT ./. 3 57897811 rs4681656 T A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=129;Gene=SLMAP/NM_001304420.2/0;CC=c.1649-297T>A;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.1535-297T>A;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.1598-297T>A;VC=Intron;Gene=SLMAP/NM_001311179.1/0;CC=c.128-297T>A;VC=Intron;Gene=SLMAP/NM_001304422.2/0;CC=c.251-297T>A;VC=Intron;Gene=SLMAP/NM_001304423.2/0;CC=c.53-297T>A;VC=Intron;Gene=SLMAP/NM_001311178.1/0;CC=c.251-297T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:58.2:0:0:23:127:9:NM_007159.2(SLMAP) c.1598-297T>A,NM_007159.2(SLMAP) c.1598-297T>A:1,1:NOT_FOUND,NOT_FOUND 3 57898430 . T . . NT END=57898884;NT GT ./. 3 57899004 . T . . NT END=57902632;NT GT ./. 3 57902806 . T . . NT END=57908615;NT GT ./. 3 57908594 rs398082122 CT C 69 rn VT=DEL;SST=Single;DP=60;DB;DBA=NA;PAF=CT/0.8125,C/0.1875;DB;DBA=NA;PAF=CT/0.8125,C/0.1875;NP=1104;PC=0.996;Gene=SLMAP/NM_001304420.2/0;CC=c.2260-13delT;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.2146-13delT;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.2209-13delT;VC=Intron;Gene=SLMAP/NM_001304422.2/0;CC=c.862-13delT;VC=Intron;Gene=SLMAP/NM_001304423.2/0;CC=c.664-13delT;VC=Intron;Gene=SLMAP/NM_001311178.1/0;CC=c.862-13delT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:59:48:0:26:34,25:1108,782:0.00,69.26:0.00,54.65:0.00,14.61:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.9,10.3:0,1:0,0:52,53:93,92:30,30:-,NM_007159.2(SLMAP) c.2209-21delT:-,0.22:-,NOT_FOUND 3 57908752 . T . . NT END=57911571;NT GT ./. 3 57911663 . T . . NT END=57913022;NT GT ./. 3 57912865 rs75226124 C CA 8 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7003,CA/0.2997;DB;DBA=NA;PAF=C/0.7003,CA/0.2997;NP=188;Gene=SLMAP/NM_001304420.2/0;CC=c.2395-157dupA;VC=Intron;Gene=SLMAP/NM_001304421.2/0;CC=c.2281-157dupA;VC=Intron;Gene=SLMAP/NM_007159.4/1;CC=c.2344-157dupA;VC=Intron;Gene=SLMAP/NM_001304422.2/0;CC=c.997-157dupA;VC=Intron;Gene=SLMAP/NM_001304423.2/0;CC=c.799-157dupA;VC=Intron;Gene=SLMAP/NM_001311178.1/0;CC=c.*7-157dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,CA:9:9:3:0:6,3:208,92:0.00,8.14:0.00,8.14:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:25.2,6.3:0,0:0,0:58,97:84,54:33,32:-,NM_007159.2(SLMAP) c.2344-158_2344-157insA:-,NOT_FOUND:-,NOT_FOUND 3 57913117 . A . . NT END=57994291;NT GT ./. 3 57994584 . G . . NT END=58062772;NT GT ./. 3 57994719 rs1658338 T A 66 nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.1428,A/0.8572;Gene=FLNB/NM_001164317.1/0;CC=c.292+136T>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.292+136T>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.292+136T>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.292+136T>A;VC=Intron;DM=FLNB/CH;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:35:1:0:0:22,13:653,426:65.63,0.00:3.78,0.00:61.86,0.00:1.00,0.00:0.75,0.00:1.00,0.00:60,60:42.0,23.5:0,0:0,0:94,113:57,38:37,27:NM_001457.3(FLNB) c.292+136T>A,-:0.84,-:NOT_FOUND,- 3 58063022 . G . . NT END=58063982;NT GT ./. 3 58064247 . G . . NT END=58064443;NT GT ./. 3 58064542 . G . . NT END=58067355;NT GT ./. 3 58067504 . G . . NT END=58080562;NT GT ./. 3 58080505 rs7644723 G T 71 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=NA;Gene=FLNB/NM_001164317.1/0;CC=c.788-58G>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.788-58G>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.788-58G>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.788-58G>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:44:40:0:0:22,22:674,740:0.00,71.26:0.00,51.10:0.00,20.16:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.6,45.8:0,0:0,0:37,39:111,111:19,17:-,NM_001457.3(FLNB) c.788-58G>T:-,0.58:-,NOT_FOUND 3 58080682 . G . . NT END=58081867;NT GT ./. 3 58081888 rs1522384 T C 71 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.358,C/0.642;PC=0.001;Gene=FLNB/NM_001164317.1/0;CC=c.927T>C;ProtCh=p.S309=;VC=Silent;Gene=FLNB/NM_001164318.1/0;CC=c.927T>C;ProtCh=p.S309=;VC=Silent;Gene=FLNB/NM_001164319.1/0;CC=c.927T>C;ProtCh=p.S309=;VC=Silent;Gene=FLNB/NM_001457.3/1;CC=c.927T>C;ProtCh=p.S309=;VC=Silent;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:50:36:0:0:23,27:747,868:70.67,0.00:43.51,0.00:27.16,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.0,6.2:0,0:0,0:74,67:77,75:33,29:NM_001457.3(FLNB) c.927T>C (p.(=)),-:0.6,-:0.395125,- 3 58081946 . G . . NT END=58083541;NT GT ./. 3 58083446 rs939882 G A 32 nt VT=SNV;PN=G;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.387,A/0.613;Gene=FLNB/NM_001164317.1/0;CC=c.985-96G>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.985-96G>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.985-96G>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.985-96G>A;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:20:0:0:11,9:332,273:32.47,0.00:32.47,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.0,4.6:0,0:0,0:36,33:113,118:29,16:NM_001457.3(FLNB) c.985-96G>A,-:0.58,-:NOT_FOUND,- 3 58083705 . G . . NT END=58084437;NT GT ./. 3 58084636 . G . . NT END=58087929;NT GT ./. 3 58084795 rs3732638 A G 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.377,G/0.623;Gene=FLNB/NM_001164317.1/0;CC=c.1345+160A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1345+160A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1345+160A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1345+160A>G;VC=Intron;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:8,10:222,326:0.00,32.02:0.00,0.00:0.00,32.02:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.8,55.3:0,0:0,0:80,88:69,54:62,30:-,NM_001457.3(FLNB) c.1345+160A>G:-,0.58:-,NOT_FOUND 3 58084895 rs6785672 A C 7 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3466,C/0.6534;PC=0.001;Gene=FLNB/NM_001164317.1/0;CC=c.1345+260A>C;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1345+260A>C;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1345+260A>C;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1345+260A>C;VC=Intron;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,C:7:0:0:0:4,3:128,79:0.00,7.23:0.00,0.00:0.00,7.23:0.00,0.69:0.00,0.00:0.00,0.69:60,60:11.2,69.3:0,0:0,0:122,121:28,29:8,19:-,NM_001457.3(FLNB) c.1345+260A>C:-,0.61:-,NOT_FOUND 3 58088068 . G . . NT END=58089685;NT GT ./. 3 58089516 rs6445945 A G 28 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.1546,G/0.8454;Gene=FLNB/NM_001164317.1/0;CC=c.1484-170A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1484-170A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1484-170A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1484-170A>G;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:7,10:222,281:0.00,27.82:0.00,27.82:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,72.8:0,0:0,0:28,57:123,94:18,39:-,NM_001457.3(FLNB) c.1484-170A>G:-,0.83:-,NOT_FOUND 3 58089585 rs6445946 T A 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4439,A/0.5561;PC=0.033;Gene=FLNB/NM_001164317.1/0;CC=c.1484-101T>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1484-101T>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1484-101T>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1484-101T>A;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:36:31:0:0:21,1,14:563,12,463:55.94,0.17,0.00:46.23,-0.14,0.00:9.71,0.31,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:54.3,158.0,4.7:0,0,0:0,0,0:36,13,29:113,137,118:30,0,21:NM_001457.3(FLNB) c.1484-101T>A,-:0.52,-:NOT_FOUND,- 3 58089813 . G . . NT END=58090806;NT GT ./. 3 58089877 rs1522386 A G 66 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=A/0.156,G/0.844;Gene=FLNB/NM_001164317.1/0;CC=c.1610+65A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1610+65A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1610+65A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1610+65A>G;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:47:17:0:0:23,1,22,1:716,7,693,10:0.00,-0.12,66.25,-0.02:0.00,-0.06,15.82,-0.06:0.00,-0.06,50.43,0.04:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:5.1,26.0,43.3,84.0:0,0,0,0:0,0,0,0:119,38,99,66:30,112,51,81:21,0,22,0:-,NM_001457.3(FLNB) c.1610+65A>G:-,0.83:-,NOT_FOUND 3 58090944 . G . . NT END=58092406;NT GT ./. 3 58091098 rs7638552 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.4425,T/0.5575;Gene=FLNB/NM_001164317.1/0;CC=c.1747+155C>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1747+155C>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1747+155C>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1747+155C>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:0:0:0:11,11:363,358:0.00,34.43:0.00,0.00:0.00,34.43:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.1,42.9:0,0:0,0:89,76:62,74:20,23:-,NM_001457.3(FLNB) c.1747+155C>T:-,0.51:-,NOT_FOUND 3 58092204 rs76136188 A T 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4752,T/0.5248;PC=0.007;Gene=FLNB/NM_001164317.1/0;CC=c.1748-203A>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1748-203A>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1748-203A>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1748-203A>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T:5:5:0:0:2,3:65,84:0.00,8.36:0.00,8.36:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,138.0:0,0:0,0:21,80:128,70:12,45:-,NM_001457.3(FLNB) c.1748-203A>T:-,0.41:-,NOT_FOUND 3 58092206 rs9816780 A T 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4257,T/0.5743;Gene=FLNB/NM_001164317.1/0;CC=c.1748-201A>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1748-201A>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1748-201A>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1748-201A>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T:5:5:0:0:2,3:65,73:0.00,7.24:0.00,7.24:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,138.0:0,0:0,0:23,82:126,68:12,45:-,NM_001457.3(FLNB) c.1748-201A>T:-,0.5:-,NOT_FOUND 3 58092208 rs2686631 A T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.2422,T/0.7578;Gene=FLNB/NM_001164317.1/0;CC=c.1748-199A>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1748-199A>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1748-199A>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1748-199A>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,T:5:5:0:0:2,3:65,65:0.00,6.43:0.00,6.43:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,138.0:0,0:0,0:25,84:124,66:12,45:-,NM_001457.3(FLNB) c.1748-199A>T:-,0.68:-,NOT_FOUND 3 58092601 . G . . NT END=58094184;NT GT ./. 3 58094157 rs2259091 A G 92 nt VT=SNV;PN=A;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.3395,G/0.6605,T/.;Gene=FLNB/NM_001164317.1/0;CC=c.1942-28A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.1942-28A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.1942-28A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.1942-28A>G;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:52:0:0:28,30:903,951:0.00,91.94:0.00,69.55:0.00,22.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.4,46.2:0,0:0,0:40,41:109,108:28,23:-,NM_001457.3(FLNB) c.1942-28A>G:-,0.61:-,0.426265 3 58094299 . G . . NT END=58094905;NT GT ./. 3 58094852 rs7634236 C T 200 nt VT=SNV;PN=T;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=C/0.3488,T/0.6512;PC=0.002;Gene=FLNB/NM_001164317.1/0;CC=c.2056-54C>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.2056-54C>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.2056-54C>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.2056-54C>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:120:104:0:0:57,63:1906,2061:0.00,200.11:0.00,148.02:0.00,52.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,35.4:0,0:0,0:43,51:106,98:22,32:-,NM_001457.3(FLNB) c.2056-54C>T:-,0.6:-,NOT_FOUND 3 58095050 . G . . NT END=58095302;NT GT ./. 3 58095427 . G . . NT END=58095736;NT GT ./. 3 58095466 rs2708318 G T 108 nt VT=SNV;PN=C;NN=T;SST=Single;DP=87;DB;DBA=NA;PAF=G/0.3015,A/.,T/0.6985;Gene=FLNB/NM_001164317.1/0;CC=c.2323+40G>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.2323+40G>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.2323+40G>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.2323+40G>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:87:37:0:0:52,35:1661,1164:0.00,107.68:0.00,37.15:0.00,70.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.3,58.7:0,0:0,0:85,112:55,38:31,15:-,NM_001457.3(FLNB) c.2323+40G>T:-,0.65:-,0.476472 3 58095500 rs2686635 G T 65 nt VT=SNV;PN=T;NN=C;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.3139,T/0.6861;Gene=FLNB/NM_001164317.1/0;CC=c.2323+74G>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.2323+74G>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.2323+74G>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.2323+74G>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:62:25:0:0:40,22:1313,715:0.00,64.51:0.00,22.26:0.00,42.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.6,64.6:0,0:0,0:107,110:43,41:22,23:-,NM_001457.3(FLNB) c.2323+74G>T:-,0.64:-,NOT_FOUND 3 58095898 . G . . NT END=58097517;NT GT ./. 3 58097609 . G . . NT END=58097875;NT GT ./. 3 58098046 . G . . NT END=58104598;NT GT ./. 3 58098444 rs7615893 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.392,C/0.608;PC=0.007;Gene=FLNB/NM_001164317.1/0;CC=c.2745+399T>C;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.2745+399T>C;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.2745+399T>C;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.2745+399T>C;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:137:15.61:4.08:11.53:1.00:1.00:1.00:60:34.2:0:0:100:40:13:NM_001457.3(FLNB) c.2745+399T>C,NM_001457.3(FLNB) c.2745+399T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 3 58104717 . G . . NT END=58106967;NT GT ./. 3 58107231 . G . . NT END=58108819;NT GT ./. 3 58108515 rs12488636 T C 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3209,C/0.6791;Gene=FLNB/NM_001164317.1/0;CC=c.3127-305T>C;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.3127-305T>C;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.3127-305T>C;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.3127-305T>C;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:4:4:0:0:2,2:70,66:6.75,0.00:6.75,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:76.0,0.0:0,0:0,0:62,50:89,100:21,23:NM_001457.3(FLNB) c.3127-305T>C,-:0.63,-:NOT_FOUND,- 3 58108551 rs12488642 T C 6 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3199,C/0.6801;Gene=FLNB/NM_001164317.1/0;CC=c.3127-269T>C;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.3127-269T>C;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.3127-269T>C;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.3127-269T>C;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:68:C,T:5:5:0:0:2,3:70,99:6.49,0.00:6.49,0.00:0.00,0.00:0.46,0.00:0.46,0.00:0.00,0.00:60,60:76.0,0.0:0,0:0,0:98,63:53,87:21,43:NM_001457.3(FLNB) c.3127-269T>C,-:0.63,-:NOT_FOUND,- 3 58109162 rs1131356 G A 224 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=157;DB;DBA=NA;PAF=G/0.4539,A/0.5461;PC=1.000;Gene=FLNB/NM_001164317.1/0;CC=c.3469G>A;ProtCh=p.D1157N;VC=Missense;Gene=FLNB/NM_001164318.1/0;CC=c.3469G>A;ProtCh=p.D1157N;VC=Missense;Gene=FLNB/NM_001164319.1/0;CC=c.3469G>A;ProtCh=p.D1157N;VC=Missense;Gene=FLNB/NM_001457.3/1;CC=c.3469G>A;ProtCh=p.D1157N;VC=Missense;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:157:112:0:0:74,1,82:2355,18,2567:223.82,0.11,0.00:114.26,-0.12,0.00:109.56,0.23,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:37.1,41.0,12.4:0,0,0:0,0,0:64,77,61:79,73,88:27,0,35:NM_001457.3(FLNB) c.3469G>A (p.Asp1157Asn),-:0.51,-:0.30063,- 3 58109418 . G . . NT END=58110058;NT GT ./. 3 58109430 rs56147140 TA T 12 idl,rn VT=DEL;SST=Single;DP=57;DB;DBA=NA;PAF=TA/0.4157,T/0.5843;DB;DBA=NA;PAF=TA/0.4157,T/0.5843;PC=0.468;Gene=FLNB/NM_001164317.1/0;CC=c.3724+36delA;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.3724+36delA;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.3724+36delA;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.3724+36delA;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,TA,T:48:23:0:15:2,40,6:42,1051,417:1.99,0.00,11.99:-0.26,0.00,2.08:2.25,0.00,9.91:0.00,0.00,0.83:0.00,0.00,0.84:0.00,0.00,0.95:60,60,60:34.0,24.4,87.2:1,0,9:0,0,0:51,130,88:71,19,54:2,19,24:-,NM_001457.3(FLNB) c.3724+14delA:-,NOT_FOUND:-,NOT_FOUND 3 58109748 rs4681800 T A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3552,A/0.6448;PC=0.003;Gene=FLNB/NM_001164317.1/0;CC=c.3725-311T>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.3725-311T>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.3725-311T>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.3725-311T>A;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,T:7:5:0:0:4,3:105,96:10.28,0.00:9.67,0.00:0.61,0.00:0.90,0.00:0.98,0.00:0.85,0.00:60,60:96.8,0.0:0,0:0,0:41,78:109,73:12,54:NM_001457.3(FLNB) c.3725-311T>A,-:0.59,-:NOT_FOUND,- 3 58109772 rs4681799 A G 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3506,G/0.6494;Gene=FLNB/NM_001164317.1/0;CC=c.3725-287A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.3725-287A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.3725-287A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.3725-287A>G;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G,T:9:8:0:0:3,5,1:94,160,20:0.00,16.05,1.38:0.00,16.05,-0.15:0.00,0.00,1.53:0.00,0.96,0.00:0.00,1.00,0.00:0.00,0.70,0.00:60,60,60:3.3,60.6,193.0:0,0,0:0,0,0:37,40,89:114,110,56:35,26,0:-,NM_001457.3(FLNB) c.3725-287A>G:-,0.59:-,NOT_FOUND 3 58110233 . G . . NT END=58111307;NT GT ./. 3 58111285 rs3732633 T G 73 nt VT=SNV;PN=G;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.4141,G/0.5859;PC=0.174;Gene=FLNB/NM_001164317.1/0;CC=c.3899-23T>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.3899-23T>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.3899-23T>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.3899-23T>G;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:57:50:0:0:25,32:776,970:72.53,0.00:60.46,0.00:12.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.4,3.6:0,0:0,0:47,46:96,93:27,34:NM_001457.3(FLNB) c.3899-23T>G,-:0.54,-:0.346994,- 3 58111471 . G . . NT END=58112328;NT GT ./. 3 58112062 rs9829490 G A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3796,A/0.6204;Gene=FLNB/NM_001164317.1/0;CC=c.4062-267G>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4062-267G>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4062-267G>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4062-267G>A;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:4:4:0:0:2,2:69,62:6.65,0.00:6.65,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:57.0,4.5:0,0:0,0:38,78:112,71:15,9:NM_001457.3(FLNB) c.4062-267G>A,-:0.57,-:NOT_FOUND,- 3 58112251 rs12495232 A G 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.4141,G/0.5859;Gene=FLNB/NM_001164317.1/0;CC=c.4062-78A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4062-78A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4062-78A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4062-78A>G;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:38:36:0:0:26,12:808,400:0.00,35.44:0.00,28.71:0.00,6.73:0.00,1.00:0.00,1.00:0.00,0.93:60,60:4.6,44.8:0,0:0,0:39,22:109,124:29,17:-,NM_001457.3(FLNB) c.4062-78A>G:-,0.54:-,NOT_FOUND 3 58112440 rs2362903 A G 101 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.1667,G/0.8333;PC=0.426;Gene=FLNB/NM_001164317.1/0;CC=c.4173A>G;ProtCh=p.A1391=;VC=Silent;Gene=FLNB/NM_001164318.1/0;CC=c.4173A>G;ProtCh=p.A1391=;VC=Silent;Gene=FLNB/NM_001164319.1/0;CC=c.4173A>G;ProtCh=p.A1391=;VC=Silent;Gene=FLNB/NM_001457.3/1;CC=c.4173A>G;ProtCh=p.A1391=;VC=Silent;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:77:42:0:0:44,33:1336,1080:0.00,100.91:0.00,34.29:0.00,66.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.5,70.9:0,0:0,0:97,84:49,65:29,31:-,NM_001457.3(FLNB) c.4173A>G (p.(=)):-,0.81:-,0.725588 3 58112488 rs2362904 C T 75 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.3514,T/0.6486;PC=0.982;Gene=FLNB/NM_001164317.1/0;CC=c.4221C>T;ProtCh=p.P1407=;VC=Silent;Gene=FLNB/NM_001164318.1/0;CC=c.4221C>T;ProtCh=p.P1407=;VC=Silent;Gene=FLNB/NM_001164319.1/0;CC=c.4221C>T;ProtCh=p.P1407=;VC=Silent;Gene=FLNB/NM_001457.3/1;CC=c.4221C>T;ProtCh=p.P1407=;VC=Silent;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:59:29:0:0:34,25:992,803:0.00,74.82:0.00,22.14:0.00,52.69:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,80.1:0,0:0,0:103,101:47,42:33,22:-,NM_001457.3(FLNB) c.4221C>T (p.(=)):-,0.59:-,0.40243 3 58112490 . G . . NT END=58116467;NT GT ./. 3 58112556 rs2362905 G C 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.3442,C/0.6558;PC=0.115;Gene=FLNB/NM_001164317.1/0;CC=c.4222+67G>C;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4222+67G>C;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4222+67G>C;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4222+67G>C;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:39:10:0:0:13,26:408,813:36.22,0.00:8.33,0.00:27.88,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:78.0,6.3:0,0:0,0:109,87:42,63:32,34:NM_001457.3(FLNB) c.4222+67G>C,-:0.6,-:NOT_FOUND,- 3 58116316 rs1573890 A G 45 nt VT=SNV;PN=T;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.3886,G/0.6114;Gene=FLNB/NM_001164317.1/0;CC=c.4223-152A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4223-152A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4223-152A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4223-152A>G;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:30:30:0:0:15,14,1:480,472,8:0.00,45.15,-0.04:0.00,45.15,-0.04:0.00,0.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.00,0.00:60,60,60:9.3,90.6,192.0:0,0,0:0,0,0:56,40,107:95,110,39:14,25,0:-,NM_001457.3(FLNB) c.4223-152A>G:-,0.56:-,NOT_FOUND 3 58116358 rs4475005 C T 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=NA;Gene=FLNB/NM_001164317.1/0;CC=c.4223-110C>T;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4223-110C>T;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4223-110C>T;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4223-110C>T;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:35:34:0:0:1,18,1,15:23,560,5,476:1.03,0.00,-0.17,44.85:1.04,0.00,-0.15,45.09:-0.01,0.00,-0.01,-0.24:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.62:60,60,60,60:23.0,12.4,34.0,94.5:0,0,0,0:0,0,0,0:112,91,32,80:39,59,119,71:0,31,0,24:-,NM_001457.3(FLNB) c.4223-110C>T:-,0.56:-,NOT_FOUND 3 58116369 rs1882692 T C 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.4119,C/0.5881;Gene=FLNB/NM_001164317.1/0;CC=c.4223-99T>C;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4223-99T>C;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4223-99T>C;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4223-99T>C;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:35:0:0:15,21:440,646:40.52,0.00:41.11,0.00:-0.58,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:90.5,11.3:0,0:0,0:67,63:83,88:25,44:NM_001457.3(FLNB) c.4223-99T>C,-:0.54,-:NOT_FOUND,- 3 58116636 . G . . NT END=58117653;NT GT ./. 3 58117747 . G . . NT END=58118534;NT GT ./. 3 58118555 rs12632456 G A 116 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=G/0.3918,A/0.6082;PC=1.000;Gene=FLNB/NM_001164317.1/0;CC=c.4504G>A;ProtCh=p.V1502M;VC=Missense;Gene=FLNB/NM_001164318.1/0;CC=c.4411G>A;ProtCh=p.V1471M;VC=Missense;Gene=FLNB/NM_001164319.1/0;CC=c.4411G>A;ProtCh=p.V1471M;VC=Missense;Gene=FLNB/NM_001457.3/1;CC=c.4411G>A;ProtCh=p.V1471M;VC=Missense;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:84:58:0:0:37,47:1233,1482:115.96,0.00:60.96,0.00:55.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,7.0:0,0:0,0:86,85:63,58:42,31:NM_001457.3(FLNB) c.4411G>A (p.Val1471Met),-:0.56,-:0.359988,- 3 58118659 . G . . NT END=58120342;NT GT ./. 3 58118700 rs12638356 A G 85 nt VT=SNV;PN=T;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=A/0.4149,G/0.5851;Gene=FLNB/NM_001164317.1/0;CC=c.4607+42A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4514+42A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4514+42A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4514+42A>G;VC=Intron;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:54:27:0:0:26,27,1:729,883,11:0.00,85.28,0.00:0.00,25.63,0.14:0.00,59.65,-0.14:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:17.2,36.7,11.0:0,0,0:0,0,0:105,102,150:33,49,1:35,19,0:-,NM_001457.3(FLNB) c.4514+42A>G:-,0.54:-,0.3503 3 58118935 rs9790287 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3904,G/0.6096;Gene=FLNB/NM_001164317.1/0;CC=c.4607+277A>G;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4514+277A>G;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4514+277A>G;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4514+277A>G;VC=Intron;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,G:5:0:0:0:2,3:43,103:0.00,10.28:0.00,0.00:0.00,10.28:0.00,0.78:0.00,0.00:0.00,0.78:60,60:49.0,46.0:0,0:0,0:130,89:20,62:17,10:-,NM_001457.3(FLNB) c.4514+277A>G:-,0.56:-,NOT_FOUND 3 58120500 . G . . NT END=58121705;NT GT ./. 3 58121626 rs6445948 T A 63 nt VT=SNV;PN=T;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.1709,A/0.8291;Gene=FLNB/NM_001164317.1/0;CC=c.4765-80T>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.4672-80T>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.4672-80T>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.4672-80T>A;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:40:39:0:0:21,19:654,568:63.39,0.00:58.38,0.00:5.01,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:31.9,9.3:0,0:0,0:37,30:114,120:18,27:NM_001457.3(FLNB) c.4672-80T>A,-:0.81,-:NOT_FOUND,- 3 58121896 . G . . NT END=58124008;NT GT ./. 3 58124257 . G . . NT END=58127584;NT GT ./. 3 58127657 . G . . NT END=58128376;NT GT ./. 3 58128480 . G . . NT END=58129199;NT GT ./. 3 58129020 rs369488034 G GC 8 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;NP=1;PC=0.018;Gene=FLNB/NM_001164317.1/0;CC=c.5378-180_5378-179insC;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.5252-180_5252-179insC;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.5213-180_5213-179insC;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.5285-180_5285-179insC;VC=Intron;DM=FLNB/Filamin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:G,GC:24:25:5:0:20,4:655,136:0.00,7.62:0.00,7.62:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:8.1,61.0:0,1:0,0:54,13:96,136:30,9:-,NM_001457.3(FLNB) c.5285-180_5285-179insC:-,NOT_FOUND:-,NOT_FOUND 3 58129341 . G . . NT END=58131647;NT GT ./. 3 58131777 . G . . NT END=58132546;NT GT ./. 3 58132721 . G . . NT END=58133932;NT GT ./. 3 58134092 . G . . NT END=58134375;NT GT ./. 3 58134580 . G . . NT END=58135576;NT GT ./. 3 58135730 . G . . NT END=58135831;NT GT ./. 3 58135955 . G . . NT END=58138434;NT GT ./. 3 58138509 . T . . NT END=58139101;NT GT ./. 3 58139369 . G . . NT END=58140517;NT GT ./. 3 58140656 . G . . NT END=58141686;NT GT ./. 3 58141803 . G . . NT END=58145280;NT GT ./. 3 58145263 rs12634123 G A 61 nt VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.2514,A/0.7486;PC=0.381;Gene=FLNB/NM_001164317.1/0;CC=c.6982-18G>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.6856-18G>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.6817-18G>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.6889-18G>A;VC=Intron;DM=FLNB/Filamin;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:55:46:0:0:22,33:668,1093:61.18,0.00:45.42,0.00:15.76,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:40.5,10.6:0,0:0,0:70,61:77,90:18,40:NM_001457.3(FLNB) c.6889-18G>A,-:0.73,-:0.627249,- 3 58145414 . G . . NT END=58148880;NT GT ./. 3 58149058 . G . . NT END=58154166;NT GT ./. 3 58154327 rs8640 C T 84 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.4287,T/0.5713;PC=0.006;Gene=FLNB/NM_001164317.1/0;CC=c.7452C>T;ProtCh=p.S2484=;VC=Silent;Gene=FLNB/NM_001164318.1/0;CC=c.7326C>T;ProtCh=p.S2442=;VC=Silent;Gene=FLNB/NM_001164319.1/0;CC=c.7287C>T;ProtCh=p.S2429=;VC=Silent;Gene=FLNB/NM_001457.3/1;CC=c.7359C>T;ProtCh=p.S2453=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:59:35:0:0:1,31,27:11,968,881:-0.03,0.00,83.68:0.10,0.00,31.38:-0.14,0.00,52.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:97.0,3.5,50.6:0,0,0:0,0,0:125,99,70:13,49,80:0,32,38:-,NM_001457.3(FLNB) c.7359C>T (p.(=)):-,0.53:-,0.336768 3 58154386 . G . . NT END=58155316;NT GT ./. 3 58155521 . G . . NT END=58156301;NT GT ./. 3 58156176 rs4681660 G A 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.1763,A/0.8237;Gene=FLNB/NM_001164317.1/0;CC=c.7715-126G>A;VC=Intron;Gene=FLNB/NM_001164318.1/0;CC=c.7589-126G>A;VC=Intron;Gene=FLNB/NM_001164319.1/0;CC=c.7550-126G>A;VC=Intron;Gene=FLNB/NM_001457.3/1;CC=c.7622-126G>A;VC=Intron;DM=FLNB/Filamin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:18:18:0:0:7,11:236,313:21.73,0.00:21.73,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:37.0,0.0:0,0:0,0:22,55:129,96:11,28:NM_001457.3(FLNB) c.7622-126G>A,-:0.8,-:NOT_FOUND,- 3 58156490 . A . . NT END=58178413;NT GT ./. 3 58178531 . C . . NT END=58178538;NT GT ./. 3 58178779 . C . . NT END=58179069;NT GT ./. 3 58178802 . C CT 27 idl,rn VT=INS;SST=Single;DP=116;PC=0.012;Gene=DNASE1L3/NM_001256560.1/0;CC=c.711+267_711+268insA;VC=Intron;Gene=DNASE1L3/NM_004944.3/1;CC=c.801+267_801+268insA;VC=Intron;DM=DNASE1L3/Exo_endo_phos;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T,CT,D:104:59:15:21:81,2,12,9:2465,46,453,560:0.00,1.56,26.78,20.19:0.00,-0.28,2.94,4.09:0.00,1.83,23.84,16.10:0.00,0.00,0.99,0.00:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:60,60,70,60:18.9,53.0,30.0,26.9:0,1,3,9:0,0,0,0:111,96,99,74:21,55,52,63:22,36,21,27:-,NM_004944.3(DNASE1L3) c.801+267_801+268insA:-,NOT_FOUND:-,NOT_FOUND 3 58179167 . C . . NT END=58183547;NT GT ./. 3 58179318 rs9812109 C T 12 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.1496,T/0.8504;Gene=DNASE1L3/NM_001256560.1/0;CC=c.615-152G>A;VC=Intron;Gene=DNASE1L3/NM_004944.3/1;CC=c.705-152G>A;VC=Intron;DM=DNASE1L3/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:9:0:0:0:5,4:155,126:0.00,11.82:0.00,0.00:0.00,11.82:0.00,0.85:0.00,0.00:0.00,0.85:60,60:9.2,31.5:0,0:0,0:87,132:64,19:36,13:-,NM_004944.3(DNASE1L3) c.705-152G>A:-,0.83:-,NOT_FOUND 3 58183706 . C . . NT END=58186723;NT GT ./. 3 58186837 . C . . NT END=58190495;NT GT ./. 3 58186911 rs4234389 A G 60 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.1476,G/0.8524;Gene=DNASE1L3/NM_001256560.1/0;CC=c.344-75T>C;VC=Intron;Gene=DNASE1L3/NM_004944.3/1;CC=c.434-75T>C;VC=Intron;DM=DNASE1L3/Exo_endo_phos;DM=DNASE1L3/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:29:6:0:0:9,1,19:284,5,589:0.00,-0.06,60.33:0.00,-0.03,2.62:0.00,-0.03,57.71:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:16.4,86.0,46.4:0,0,0:0,0,0:128,68,86:22,83,65:12,0,35:-,NM_004944.3(DNASE1L3) c.434-75T>C:-,0.83:-,NOT_FOUND 3 58190609 . C . . NT END=58191197;NT GT ./. 3 58191288 . C . . NT END=58193944;NT GT ./. 3 58194034 . C . . NT END=58196492;NT GT ./. 3 58194051 rs3732631 C A 106 nt VT=SNV;PN=T;NN=C;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.7292,A/0.2708;Gene=DNASE1L3/NM_001256560.1/0;CC=c.142-18G>T;VC=Intron;Gene=DNASE1L3/NM_004944.3/1;CC=c.142-18G>T;VC=Intron;DM=DNASE1L3/Exo_endo_phos;DM=DNASE1L3/Exo_endo_phos;DM=DNASE1L3/Exo_endo_phos;DM=DNASE1L3/Exo_endo_phos GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:74:41:0:0:36,38:1115,1209:106.41,0.00:45.91,0.00:60.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,1.6:0,0:0,0:107,113:42,31:20,27:NM_004944.3(DNASE1L3) c.142-18G>T,-:0.3,-:0.281178,- 3 58196634 . C . . NT END=58242313;NT GT ./. 3 58196639 rs2292677 C T 134 nt VT=SNV;PN=G;NN=G;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.7272,T/0.2728;Gene=DNASE1L3/NM_001256560.1/0;CC=c.-6G>A;VC=5UTR;Gene=DNASE1L3/NM_004944.3/1;CC=c.-6G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:81:0:0:86,46:2763,1495:0.00,134.39:0.00,49.66:0.00,84.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.9,39.7:0,0:0,0:79,76:60,65:32,36:-,NM_004944.3(DNASE1L3) c.-6G>A:-,0.3:-,0.283177 3 58196843 rs6807301 A T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.1322,T/0.8678 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:A,T:15:0:0:0:8,7:242,189:0.00,17.69:0.00,0.00:0.00,17.69:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.9,54.0:0,0:0,0:106,119:44,31:38,15:-,NM_004944.3(DNASE1L3) c.-97-u113T>A:-,0.85:-,NOT_FOUND 3 58196873 rs6807311 A G 12 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.1322,G/0.8678;PC=0.422 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,G:9:0:0:0:5,4:167,127:0.00,11.92:0.00,0.00:0.00,11.92:0.00,0.85:0.00,0.00:0.00,0.85:60,60:6.8,64.5:0,0:0,0:92,111:58,38:31,19:-,NM_004944.3(DNASE1L3) c.-97-u143T>C:-,0.85:-,NOT_FOUND 3 58242433 . G . . NT END=58252915;NT GT ./. 3 58250114 rs61099164 GCACACACACACACACA G 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;Gene=ABHD6/NM_020676.5/1;CC=c.120-2759_120-2744delCACACACACACACACA;VC=Intron;DM=ABHD6/RNase_P_Rpp14;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:GCACACACACACACACA,G:3:4:0:4:1,2:25,97:0.00,6.65:0.00,6.65:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:57,60:0.0,54.5:0,1:0,0:104,18:43,132:0,10:-,NM_020676.5(ABHD6) c.120-2801_120-2786delCACACACACACACACA:-,NOT_FOUND:-,NOT_FOUND 3 58253073 . G . . NT END=58255047;NT GT ./. 3 58255162 . G . . NT END=58256658;NT GT ./. 3 58256792 . G . . NT END=58260384;NT GT ./. 3 58260073 rs2271633 A G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5725,G/0.4275;Gene=ABHD6/NM_020676.5/1;CC=c.524-312A>G;VC=Intron;DM=ABHD6/Abhydrolase_1;DM=ABHD6/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:A,G:5:5:0:0:2,3:40,105:0.00,10.52:0.00,10.52:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:81.5,94.3:0,0:0,0:94,77:55,74:42,13:-,NM_020676.5(ABHD6) c.524-312A>G:-,0.43:-,NOT_FOUND 3 58260149 rs2271634 T G 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.7432,G/0.2568;Gene=ABHD6/NM_020676.5/1;CC=c.524-236T>G;VC=Intron;DM=ABHD6/Abhydrolase_1;DM=ABHD6/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:G,T:7:7:0:0:4,3:132,73:13.04,0.00:13.04,0.00:0.00,0.00:0.90,0.00:0.90,0.00:0.00,0.00:60,60:93.2,2.7:0,0:0,0:73,21:77,129:31,6:NM_020676.5(ABHD6) c.524-236T>G,-:0.27,-:NOT_FOUND,- 3 58260543 . G . . NT END=58270811;NT GT ./. 3 58270867 . G . . NT END=58271079;NT GT ./. 3 58270963 rs6774235 T C 39 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.1406,C/0.8594;PC=0.001;Gene=ABHD6/NM_020676.5/1;CC=c.736+97T>C;VC=Intron;DM=ABHD6/Abhydrolase_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:16:0:0:13,14:406,471:38.67,0.00:28.18,0.00:10.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.2,2.6:0,0:0,0:38,66:112,84:29,46:NM_020676.5(ABHD6) c.736+97T>C,-:0.84,-:NOT_FOUND,- 3 58271181 . G . . NT END=58279312;NT GT ./. 3 58279493 . G . . NT END=58296056;NT GT ./. 3 58279771 rs2176083 G C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.1402,C/0.8598;Gene=ABHD6/NM_020676.5/1;CC=c.*279G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:4:0:0:0:2,2:69,69:6.65,0.00:0.00,0.00:6.65,0.00:0.51,0.00:0.00,0.00:0.51,0.00:60,60:55.5,0.0:0,0:0,0:140,102:7,49:6,29:NM_020676.5(ABHD6) c.*279G>C,-:0.84,-:NOT_FOUND,- 3 58295934 rs144199276 AAAAC A 10 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=AAAAC/0.9756,A/0.02436;NP=189;PC=0.049;Gene=RPP14/NM_001098783.2/1;CC=c.-21-90_-21-87delCAAA;VC=Intron;Gene=RPP14/NM_007042.4/0;CC=c.-21-90_-21-87delCAAA;VC=Intron;Gene=RPP14/NR_049755.1/0;VC=NonCoding;Gene=RPP14/NR_049756.1/0;VC=NonCoding;Gene=RPP14/NR_049757.1/0;VC=NonCoding;Gene=RPP14/NR_049758.1/0;VC=NonCoding;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:110:AAAAC,A:13:13:0:4:9,4:275,119:0.00,10.32:0.00,10.40:0.00,-0.08:0.00,0.79:0.00,0.79:0.00,0.54:60,60:1.1,1.5:0,0:0,0:56,79:95,71:25,28:-,NM_001098783.2(RPP14) c.-21-101_-21-98delAAAC:-,0.03:-,NOT_FOUND 3 58296134 . G . . NT END=58296233;NT GT ./. 3 58296209 rs527581440 C CT 13 idl,rn VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=NA;NP=1;Gene=RPP14/NM_001098783.2/1;CC=c.78-13dupT;VC=Intron;Gene=RPP14/NM_007042.4/0;CC=c.78-13dupT;VC=Intron;Gene=RPP14/NR_049755.1/0;VC=NonCoding;Gene=RPP14/NR_049756.1/0;VC=NonCoding;Gene=RPP14/NR_049757.1/0;VC=NonCoding;Gene=RPP14/NR_049758.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:C,CT,D:54:33:7:3:45,6,3:1475,206,87:0.00,12.64,5.25:0.00,8.15,-0.55:0.00,4.49,5.81:0.00,0.83,0.00:0.00,0.93,0.00:0.00,0.93,0.00:60,60,60:16.1,34.5,0.0:0,1,0:0,0,0:101,28,62:49,123,88:36,14,20:-,NM_001098783.2(RPP14) c.78-25_78-24insT:-,NOT_FOUND:-,NOT_FOUND 3 58296319 . G . . NT END=58302241;NT GT ./. 3 58302319 . G . . NT END=58302641;NT GT ./. 3 58302721 . G . . NT END=58303166;NT GT ./. 3 58303224 . A . . NT END=58318715;NT GT ./. 3 58318819 . T . . NT END=58351600;NT GT ./. 3 58320686 rs35740866 C G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=347;Gene=PXK/NM_001289095.1/0;CC=c.102+1869C>G;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.102+1869C>G;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.102+1869C>G;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.-253+1869C>G;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.102+1869C>G;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.-24+1869C>G;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.102+1869C>G;VC=Intron;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:151:C,G,D:12:8:0:2:6,5,1:167,164,28:0.00,15.49,1.97:0.00,11.57,2.12:0.00,3.92,-0.15:0.00,0.92,0.00:0.00,0.98,0.00:0.00,0.97,0.00:60,60,60:21.5,144.2,60.0:0,0,0:0,0,0:41,32,108:104,119,43:24,22,0:-,NM_017771.3(PXK) c.102+1869C>G:-,NOT_FOUND:-,NOT_FOUND 3 58337122 rs57349140 T TTTTG 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=4;NP=41;PC=0.004;Gene=PXK/NM_001289095.1/0;CC=c.103-18035_103-18034insTTGT;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.102+18306_102+18307insTTGT;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.103-14478_103-14477insTTGT;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.-252-18035_-252-18034insTTGT;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.102+18306_102+18307insTTGT;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.-24+18306_-24+18307insTTGT;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.103-14478_103-14477insTTGT;VC=Intron;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:T,TTTTG,D:5:4:3:2:1,3,1:34,99,68:0.00,10.13,3.02:0.00,8.69,3.10:0.00,1.44,-0.08:0.00,0.73,0.00:0.00,0.51,0.00:0.00,0.89,0.00:60,60,60:0.0,6.0,14.0:1,0,1:0,0,0:110,33,70:41,118,80:0,14,27:-,NM_017771.3(PXK) c.103-14479_103-14478insTTTG:-,NOT_FOUND:-,NOT_FOUND 3 58351653 . T . . NT END=58355157;NT GT ./. 3 58351660 rs535132919 C CT 9 idl,rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;NP=3;NP=35;PC=0.472;Gene=PXK/NM_001289095.1/0;CC=c.103-3483dupT;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.103-16566dupT;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.153+24dupT;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.-252-3483dupT;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.103-16566dupT;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.-23-24634dupT;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.153+24dupT;VC=Intron;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:C,CT:18:17:12:0:14,4:440,369:0.00,9.05:0.00,1.53:0.00,7.52:0.00,0.67:0.00,0.88:0.00,0.87:60,60:24.0,86.0:0,8:0,0:106,90:41,60:24,26:-,NM_017771.3(PXK) c.153+9_153+10insT:-,NOT_FOUND:-,NOT_FOUND 3 58355207 . T . . NT END=58368240;NT GT ./. 3 58355273 rs9867320 G C 48 nt VT=SNV;PN=C;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.2278,C/0.7722,T/.;Gene=PXK/NM_001289095.1/0;CC=c.150+68G>C;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.103-12968G>C;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.201+68G>C;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.-205+68G>C;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.103-12968G>C;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.-23-21036G>C;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.201+68G>C;VC=Intron;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:25:9:0:0:16,9:470,287:47.53,0.00:15.43,0.00:32.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.2,0.0:0,0:0,0:124,102:26,49:20,43:NM_017771.3(PXK) c.201+68G>C,-:0.78,-:0.766871,- 3 58368219 rs398038692 C CT 37 idl,rn VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=178;NP=6;PC=0.004;Gene=PXK/NM_001289095.1/0;CC=c.151-5dupT;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.103-5dupT;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.202-5dupT;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.-48-5dupT;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.103-5dupT;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.-23-8073dupT;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.202-5dupT;VC=Intron;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;DM=PXK/PX;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CT,D:40:36:17:4:22,1,14,3:728,12,504,122:0.00,0.08,37.26,6.07:0.00,-0.17,20.79,3.63:0.00,0.25,16.47,2.44:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:24.5,12.0,36.1,38.0:0,0,3,1:0,0,0,0:51,17,62,61:89,133,86,88:38,0,19,18:-,NM_017771.3(PXK) c.202-22_202-21insT:-,NOT_FOUND:-,NOT_FOUND 3 58368429 . T . . NT END=58376308;NT GT ./. 3 58368449 rs11917591 T C 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.7995,C/0.2005;Gene=PXK/NM_001289095.1/0;CC=c.337+22T>C;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.289+22T>C;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.388+22T>C;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.139+22T>C;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.289+22T>C;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.-23-7860T>C;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.388+22T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:11:0:0:13,17:450,541:42.29,0.00:3.37,0.00:38.92,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:43.9,6.1:0,0:0,0:92,107:58,44:32,39:NM_017771.3(PXK) c.388+22T>C,-:0.23,-:0.316008,- 3 58376388 . T . . NT END=58376873;NT GT ./. 3 58376639 rs4390943 C A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2384,A/0.7616;Gene=PXK/NM_001289095.1/0;CC=c.416-235C>A;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.368-235C>A;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.467-235C>A;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.218-235C>A;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.368-235C>A;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.56-235C>A;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.467-235C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:43:A,C:5:3:0:0:3,2:96,45:9.59,0.00:6.54,0.00:3.06,0.00:0.78,0.00:0.94,0.00:0.87,0.00:60,60:32.0,51.0:0,0:0,0:14,109:137,37:1,7:NM_017771.3(PXK) c.467-235C>A,-:0.78,-:NOT_FOUND,- 3 58376949 . T . . NT END=58377499;NT GT ./. 3 58376992 rs11923253 G A 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.8157,A/0.1843;PC=0.048;Gene=PXK/NM_001289095.1/0;CC=c.489+45G>A;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.441+45G>A;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.540+45G>A;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.291+45G>A;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.441+45G>A;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.129+45G>A;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.540+45G>A;VC=Intron;DM=PXK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:179:A,G:13:6:0:0:5,8:180,231:16.63,0.00:3.04,0.00:13.59,0.00:0.91,0.00:0.93,0.00:0.99,0.00:60,60:36.0,6.1:0,0:0,0:51,134:99,15:3,16:NM_017771.3(PXK) c.540+45G>A,-:0.21,-:0.297247,- 3 58377231 rs78592368 C CA 10 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1124,CA/0.8876;DB;DBA=NA;PAF=C/0.1124,CA/0.8876,CAA/.,CC/.;DB;DBA=NA;PAF=C/0.1124,CA/0.8876;DB;DBA=NA;PAF=NA;NP=3;NP=92;Gene=PXK/NM_001289095.1/0;CC=c.490-258dupA;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.442-258dupA;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.541-258dupA;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.292-258dupA;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.442-258dupA;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.130-258dupA;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.541-258dupA;VC=Intron;DM=PXK/Pkinase;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,CA:5:4:3:0:2,3:66,101:0.00,10.07:0.00,6.51:0.00,3.55:0.00,0.78:0.00,0.97:0.00,0.73:60,60:16.5,0.0:0,0:0,0:59,73:91,78:16,20:-,NM_017771.3(PXK) c.541-269_541-268insA:-,NOT_FOUND:-,NOT_FOUND 3 58377576 . T . . NT END=58380724;NT GT ./. 3 58380569 rs11923181 A C 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7993,C/0.2007;Gene=PXK/NM_001289095.1/0;CC=c.565-156A>C;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.517-156A>C;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.616-156A>C;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.367-156A>C;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.517-156A>C;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.205-156A>C;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.616-156A>C;VC=Intron;DM=PXK/Pkinase;DM=PXK/Pkinase;DM=PXK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,C:5:5:0:0:3,2:94,71:0.00,6.59:0.00,6.59:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:0.0,59.5:0,0:0,0:1,84:150,65:1,24:-,NM_017771.3(PXK) c.616-156A>C:-,0.23:-,NOT_FOUND 3 58380831 . T . . NT END=58381384;NT GT ./. 3 58381120 rs4553989 T A 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2398,A/0.7602;Gene=PXK/NM_001289095.1/0;CC=c.670-265T>A;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.622-265T>A;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.721-265T>A;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.472-265T>A;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.622-265T>A;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.310-265T>A;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.721-265T>A;VC=Intron;DM=PXK/Pkinase;DM=PXK/Pkinase;DM=PXK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,T:4:4:0:0:2,2:66,65:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:33.0,0.0:0,0:0,0:60,72:91,79:5,22:NM_017771.3(PXK) c.721-265T>A,-:0.77,-:NOT_FOUND,- 3 58381488 . T . . NT END=58382765;NT GT ./. 3 58382846 rs3191903 C T 106 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.7993,T/0.2007;PC=1.000;Gene=PXK/NM_001289095.1/0;CC=c.852C>T;ProtCh=p.C284=;VC=Silent;Gene=PXK/NM_001289096.1/0;CC=c.804C>T;ProtCh=p.C268=;VC=Silent;Gene=PXK/NM_001289098.1/1;CC=c.903C>T;ProtCh=p.C301=;VC=Silent;Gene=PXK/NM_001289099.1/0;CC=c.654C>T;ProtCh=p.C218=;VC=Silent;Gene=PXK/NM_001289100.1/0;CC=c.804C>T;ProtCh=p.C268=;VC=Silent;Gene=PXK/NM_001289101.1/0;CC=c.492C>T;ProtCh=p.C164=;VC=Silent;Gene=PXK/NM_017771.4/0;CC=c.903C>T;ProtCh=p.C301=;VC=Silent;DM=PXK/Pkinase;DM=PXK/Pkinase;DM=PXK/Pkinase;DM=PXK/WH2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:53:0:0:45,35:1448,1127:0.00,105.58:0.00,47.49:0.00,58.09:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,38.9:0,0:0,0:82,65:65,73:22,34:-,NM_017771.3(PXK) c.903C>T (p.(=)):-,0.23:-,0.316546 3 58382929 . T . . NT END=58383331;NT GT ./. 3 58383174 rs55692656 A T 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.7883,T/0.2117;PC=0.052;Gene=PXK/NM_001289095.1/0;CC=c.934-158A>T;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.886-158A>T;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.985-158A>T;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.736-158A>T;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.886-158A>T;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.574-158A>T;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.985-158A>T;VC=Intron;DM=PXK/Pkinase;DM=PXK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:176:A,T:13:9:0:0:6,7:171,239:0.00,23.37:0.00,20.74:0.00,2.62:0.00,0.99:0.00,1.00:0.00,0.96:60,60:16.8,53.4:0,0:0,0:113,17:37,134:26,9:-,NM_017771.3(PXK) c.985-158A>T:-,0.24:-,NOT_FOUND 3 58383268 . A G 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=22;Gene=PXK/NM_001289095.1/0;CC=c.934-64A>G;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.886-64A>G;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.985-64A>G;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.736-64A>G;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.886-64A>G;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.574-64A>G;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.985-64A>G;VC=Intron;DM=PXK/Pkinase;DM=PXK/Pkinase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:20:0:0:13,9:433,229:0.00,20.61:0.00,19.37:0.00,1.24:0.00,1.00:0.00,1.00:0.00,0.81:60,60:4.7,47.6:0,0:0,0:36,98:115,53:11,22:-,NM_017771.3(PXK) c.985-64A>G:-,NOT_FOUND:-,NOT_FOUND 3 58383451 . T . . NT END=58385025;NT GT ./. 3 58384775 rs11712139 G A 9 end,nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7955,A/0.2045;Gene=PXK/NM_001289095.1/0;CC=c.1052-251G>A;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1004-251G>A;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1103-251G>A;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.854-251G>A;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1004-251G>A;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.692-251G>A;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1103-251G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:96:A,G:7:7:0:0:3,4:95,125:8.86,0.00:8.86,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:35.0,0.0:0,0:0,0:9,20:142,129:2,3:NM_017771.3(PXK) c.1103-251G>A,-:0.23,-:NOT_FOUND,- 3 58384995 rs11712213 G A 76 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.7957,A/0.2043;PC=1.000;Gene=PXK/NM_001289095.1/0;CC=c.1052-31G>A;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1004-31G>A;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1103-31G>A;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.854-31G>A;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1004-31G>A;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.692-31G>A;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1103-31G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:33:0:0:24,23:782,729:75.50,0.00:45.28,0.00:30.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.4,15.6:0,0:0,0:29,53:115,98:23,27:NM_017771.3(PXK) c.1103-31G>A,-:0.23,-:0.319622,- 3 58385106 . T . . NT END=58389588;NT GT ./. 3 58385194 rs4075152 T C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.2586,C/0.7414;Gene=PXK/NM_001289095.1/0;CC=c.1130+90T>C;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1082+90T>C;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1181+90T>C;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.932+90T>C;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1082+90T>C;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.770+90T>C;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1181+90T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:2:0:0:7,8:246,236:23.45,0.00:3.65,0.00:19.80,0.00:1.00,0.00:0.76,0.00:1.00,0.00:60,60:35.1,1.9:0,0:0,0:115,101:35,49:26,35:NM_017771.3(PXK) c.1181+90T>C,-:0.76,-:NOT_FOUND,- 3 58389462 rs4339119 A G 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.7957,G/0.2043;Gene=PXK/NM_001289095.1/0;CC=c.1131-127A>G;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1083-127A>G;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1182-127A>G;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.933-127A>G;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1083-127A>G;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.771-127A>G;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1182-127A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:A,G:10:10:0:0:6,4:186,95:0.00,8.48:0.00,6.84:0.00,1.64:0.00,0.84:0.00,0.84:0.00,0.60:60,60:0.0,29.0:0,0:0,0:54,80:96,70:29,44:-,NM_017771.3(PXK) c.1182-127A>G:-,0.23:-,NOT_FOUND 3 58389639 . T . . NT END=58394650;NT GT ./. 3 58394730 . T . . NT END=58395258;NT GT ./. 3 58395347 . T . . NT END=58395816;NT GT ./. 3 58395863 rs56384862 A G 21 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.8227,G/0.1773;PC=1.000;Gene=PXK/NM_001289095.1/0;CC=c.1391A>G;ProtCh=p.K464R;VC=Missense;Gene=PXK/NM_001289096.1/0;CC=c.1343A>G;ProtCh=p.K448R;VC=Missense;Gene=PXK/NM_001289098.1/1;CC=c.1442A>G;ProtCh=p.K481R;VC=Missense;Gene=PXK/NM_001289099.1/0;CC=c.1193A>G;ProtCh=p.K398R;VC=Missense;Gene=PXK/NM_001289100.1/0;CC=c.1343A>G;ProtCh=p.K448R;VC=Missense;Gene=PXK/NM_001289101.1/0;CC=c.1031A>G;ProtCh=p.K344R;VC=Missense;Gene=PXK/NM_017771.4/0;CC=c.1442A>G;ProtCh=p.K481R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:15:0:0:14,7:481,239:0.00,21.43:0.00,14.66:0.00,6.78:0.00,0.97:0.00,0.89:0.00,0.99:60,60:30.2,34.1:0,0:0,0:82,59:61,91:13,14:-,NM_017771.3(PXK) c.1442A>G (p.Lys481Arg):-,0.2:-,0.29102 3 58395888 . T . . NT END=58398627;NT GT ./. 3 58395891 rs4681851 C G 42 nt VT=SNV;PN=A;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8512,G/0.1488;PC=0.910;Gene=PXK/NM_001289095.1/0;CC=c.1414+5C>G;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1366+5C>G;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1465+5C>G;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1216+5C>G;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1366+5C>G;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1054+5C>G;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1465+5C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:18:12:0:0:6,12:208,411:0.00,41.85:0.00,14.75:0.00,27.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.7,34.2:0,0:0,0:82,107:68,38:12,21:-,NM_017771.3(PXK) c.1465+5C>G:-,0.14:-,0.14255 3 58398447 rs62258134 C T 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7957,T/0.2043;Gene=PXK/NM_001289095.1/0;CC=c.1415-184C>T;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1367-181C>T;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1466-181C>T;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1217-181C>T;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1367-181C>T;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1055-181C>T;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1466-181C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:C,T:11:11:0:0:6,5:170,170:0.00,16.10:0.00,16.10:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:8.7,68.4:0,0:0,0:62,88:88,63:23,13:-,NM_017771.3(PXK) c.1466-181C>T:-,0.23:-,NOT_FOUND 3 58398466 rs12635366 C T 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.2398,T/0.7602;Gene=PXK/NM_001289095.1/0;CC=c.1415-165C>T;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1367-162C>T;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1466-162C>T;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1217-162C>T;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1367-162C>T;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1055-162C>T;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1466-162C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:13:0:0:6,7:196,204:0.00,19.80:0.00,19.80:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:8.7,68.4:0,0:0,0:81,95:69,56:23,26:-,NM_017771.3(PXK) c.1466-162C>T:-,0.77:-,NOT_FOUND 3 58398692 . T . . NT END=58406262;NT GT ./. 3 58398813 rs13071422 A G 21 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2594,G/0.7406;PC=0.004;Gene=PXK/NM_001289095.1/0;CC=c.1474+123A>G;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1429+123A>G;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.1528+123A>G;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1279+123A>G;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.1429+123A>G;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1117+123A>G;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1528+123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:A,G:10:0:0:0:4,6:128,206:0.00,20.54:0.00,0.00:0.00,20.54:0.00,0.99:0.00,0.00:0.00,0.99:60,60:7.2,50.7:0,0:0,0:132,114:18,36:3,7:-,NM_017771.3(PXK) c.1528+123A>G:-,0.75:-,NOT_FOUND 3 58406693 rs6772652 A G 109 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=76;DB;DBA=NA;PAF=A/0.2578,G/0.7422;Gene=PXK/NM_001289095.1/0;CC=c.1475-2495A>G;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-3786A>G;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*13+398A>G;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-3786A>G;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*13+398A>G;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-3786A>G;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-3786A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:76:43:0:0:41,35:1368,1153:0.00,109.20:0.00,56.12:0.00,53.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,45.0:0,0:0,0:72,78:68,73:49,33:-,NM_017771.3(PXK) c.1529-3786A>G:-,0.76:-,NOT_FOUND 3 58406836 rs62258139 C T 156 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.7955,T/0.2045;Gene=PXK/NM_001289095.1/0;CC=c.1475-2352C>T;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-3643C>T;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*13+541C>T;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-3643C>T;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*13+541C>T;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-3643C>T;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-3643C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:101:71:0:0:53,48:1557,1632:0.00,155.87:0.00,80.28:0.00,75.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,42.1:0,0:0,0:72,74:72,70:33,26:-,NM_017771.3(PXK) c.1529-3643C>T:-,0.23:-,NOT_FOUND 3 58407050 . t . . NT END=58407295;NT GT ./. 3 58407083 rs62258140 C T 61 nt VT=SNV;PN=G;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.7957,T/0.2043;PC=0.023;Gene=PXK/NM_001289095.1/0;CC=c.1475-2105C>T;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-3396C>T;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*13+788C>T;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-3396C>T;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*13+788C>T;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-3396C>T;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-3396C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:53:17:0:0:1,31,1,20:13,944,10,667:0.06,0.00,-0.08,61.40:-0.04,0.00,0.14,14.67:0.09,0.00,-0.22,46.73:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:109.0,3.2,106.0,44.6:0,0,0,0:0,0,0,0:27,102,123,93:100,46,28,57:0,31,0,26:-,NM_017771.3(PXK) c.1529-3396C>T:-,0.23:-,NOT_FOUND 3 58407837 rs9822328 T C 164 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=T/0.2384,C/0.7616;Gene=PXK/NM_001289095.1/0;CC=c.1475-1351T>C;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-2642T>C;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*13+1542T>C;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-2642T>C;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*13+1542T>C;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-2642T>C;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-2642T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:120:70:0:0:53,67:1742,2024:163.74,0.00:98.08,0.00:65.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.6,8.0:0,0:0,0:70,87:80,63:35,34:NM_017771.3(PXK) c.1529-2642T>C,-:0.78,-:NOT_FOUND,- 3 58408679 rs11721168 G A 136 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.7945,A/0.2055;Gene=PXK/NM_001289095.1/0;CC=c.1475-509G>A;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-1800G>A;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*14-1800G>A;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-1800G>A;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*14-1800G>A;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-1800G>A;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-1800G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:115:74:0:0:46,69:1472,2150:135.50,0.00:65.90,0.00:69.61,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.5,9.1:0,0:0,0:93,82:55,67:40,37:NM_017771.3(PXK) c.1529-1800G>A,-:0.23,-:NOT_FOUND,- 3 58408765 rs6782218 T C 118 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.2586,C/0.7414;Gene=PXK/NM_001289095.1/0;CC=c.1475-423T>C;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-1714T>C;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*14-1714T>C;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-1714T>C;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*14-1714T>C;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-1714T>C;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-1714T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:94:68:0:0:38,1,55:1269,12,1710:117.73,-0.09,0.00:58.51,-0.14,0.00:59.22,0.05,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:53.2,80.0,9.9:0,0,0:0,0,0:81,120,86:61,31,61:35,0,30:NM_017771.3(PXK) c.1529-1714T>C,-:0.76,-:NOT_FOUND,- 3 58408910 rs6767291 C T 79 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.2382,T/0.7618;Gene=PXK/NM_001289095.1/0;CC=c.1475-278C>T;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-1569C>T;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*14-1569C>T;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-1569C>T;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*14-1569C>T;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-1569C>T;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-1569C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:55:26:0:0:29,26:972,834:0.00,79.26:0.00,39.56:0.00,39.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,37.6:0,0:0,0:111,103:40,42:28,35:-,NM_017771.3(PXK) c.1529-1569C>T:-,0.78:-,NOT_FOUND 3 58409126 rs6767498 C A 33 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.6258,A/0.3742;Gene=PXK/NM_001289095.1/0;CC=c.1475-62C>A;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-1353C>A;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*14-1353C>A;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-1353C>A;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*14-1353C>A;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-1353C>A;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-1353C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:29:16:0:0:11,18:366,598:33.49,0.00:16.55,0.00:16.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.3,29.2:0,0:0,0:59,67:92,79:37,48:NM_017771.3(PXK) c.1529-1353C>A,-:0.39,-:NOT_FOUND,- 3 58409173 rs4681852 A T 53 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.8512,T/0.1488;PC=0.584;Gene=PXK/NM_001289095.1/0;CC=c.1475-15A>T;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-1306A>T;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*14-1306A>T;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-1306A>T;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*14-1306A>T;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-1306A>T;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-1306A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:29:16:0:0:12,17:378,530:0.00,52.56:0.00,19.89:0.00,32.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.0,35.6:0,0:0,0:41,61:102,80:29,38:-,NM_017771.3(PXK) c.1529-1306A>T:-,0.14:-,NOT_FOUND 3 58409223 . T . . NT END=58410478;NT GT ./. 3 58409300 rs397700395 G GTT 41 nt VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7945,GTT/0.2055;DB;DBA=NA;PAF=G/0.7945,GTT/0.2055;DB;DBA=NA;PAF=G/0.7945,GTT/0.2055;NP=55;Gene=PXK/NM_001289095.1/0;CC=c.1508+80_1508+81dupTT;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-1178_1430-1177dupTT;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*14-1178_*14-1177dupTT;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-1178_1280-1177dupTT;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*14-1178_*14-1177dupTT;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-1178_1118-1177dupTT;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-1178_1529-1177dupTT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTT:26:15:13:0:13,13:411,423:0.00,40.69:0.00,25.42:0.00,15.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.1,3.4:0,0:0,0:100,116:35,35:25,22:-,NM_017771.3(PXK) c.1529-1179_1529-1178insTT:-,0.23:-,NOT_FOUND 3 58410431 rs11714515 A G 108 nt VT=SNV;PN=C;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.7436,G/0.2564;PC=0.038;Gene=PXK/NM_001289095.1/0;CC=c.1509-48A>G;VC=Intron;Gene=PXK/NM_001289096.1/0;CC=c.1430-48A>G;VC=Intron;Gene=PXK/NM_001289098.1/1;CC=c.*14-48A>G;VC=Intron;Gene=PXK/NM_001289099.1/0;CC=c.1280-48A>G;VC=Intron;Gene=PXK/NM_001289100.1/0;CC=c.*14-48A>G;VC=Intron;Gene=PXK/NM_001289101.1/0;CC=c.1118-48A>G;VC=Intron;Gene=PXK/NM_017771.4/0;CC=c.1529-48A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:87:73:0:0:47,1,39:1598,13,1154:0.00,-0.02,108.13:0.00,0.07,72.64:0.00,-0.09,35.49:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.1,13.0,37.8:0,0,0:0,0,0:62,112,68:88,39,76:27,0,24:-,NM_017771.3(PXK) c.1529-48A>G:-,0.28:-,0.388246 3 58410554 rs34579268 C T 137 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=106;DB;DBA=NA;PAF=C/0.7945,T/0.2055;Gene=PXK/NM_001289095.1/0;CC=c.1584C>T;ProtCh=p.G528=;VC=Silent;Gene=PXK/NM_001289096.1/0;CC=c.1505C>T;ProtCh=p.A502V;VC=Missense;Gene=PXK/NM_001289098.1/1;CC=c.*89C>T;VC=3UTR;Gene=PXK/NM_001289099.1/0;CC=c.1355C>T;ProtCh=p.A452V;VC=Missense;Gene=PXK/NM_001289100.1/0;CC=c.*89C>T;VC=3UTR;Gene=PXK/NM_001289101.1/0;CC=c.1193C>T;ProtCh=p.A398V;VC=Missense;Gene=PXK/NM_017771.4/0;CC=c.1604C>T;ProtCh=p.A535V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:106:72:0:0:59,47:2007,1460:0.00,136.76:0.00,65.45:0.00,71.31:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.4,37.3:0,0:0,0:56,75:93,69:34,33:-,NM_017771.3(PXK) c.1604C>T (p.Ala535Val):-,0.24:-,0.319622 3 58410688 . A . . NT END=58413760;NT GT ./. 3 58413669 rs4228 G T 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.7953,A/.,T/0.2047;Gene=PDHB/NR_033384.1/0;VC=NonCoding;Gene=PDHB/NM_000925.3/1;CC=c.*92C>A;VC=3UTR;Gene=PDHB/NM_001173468.1/0;CC=c.*92C>A;VC=3UTR;Gene=PDHB/NM_001315536/0;CC=c.*92C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:20:20:0:0:11,9:314,312:0.00,29.53:0.00,29.92:0.00,-0.39:0.00,1.00:0.00,1.00:0.00,0.85:60,60:24.2,34.7:0,0:0,0:33,48:118,102:16,6:-,NM_000925.3(PDHB) c.*92C>A:-,0.23:-,NOT_FOUND 3 58413907 . C . . NT END=58414199;NT GT ./. 3 58414342 . C . . NT END=58415434;NT GT ./. 3 58415263 rs55646457 T A 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.7953,A/0.2047;PC=0.032;Gene=PDHB/NR_033384.1/0;VC=NonCoding;Gene=PDHB/NM_000925.3/1;CC=c.792+172A>T;VC=Intron;Gene=PDHB/NM_001173468.1/0;CC=c.738+172A>T;VC=Intron;Gene=PDHB/NM_001315536/0;CC=c.738+172A>T;VC=Intron;DM=PDHB/Transketolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,T:5:5:0:0:4,1:128,32:13.62,0.00:13.62,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:32.0,11.0:0,0:0,0:98,57:52,94:16,0:NM_000925.3(PDHB) c.792+172A>T,-:0.23,-:NOT_FOUND,- 3 58415527 . C . . NT END=58415854;NT GT ./. 3 58415590 rs2070662 C A 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.2596,A/0.7404;Gene=PDHB/NR_033384.1/0;VC=NonCoding;Gene=PDHB/NM_000925.3/1;CC=c.701-64G>T;VC=Intron;Gene=PDHB/NM_001173468.1/0;CC=c.647-64G>T;VC=Intron;Gene=PDHB/NM_001315536/0;CC=c.647-64G>T;VC=Intron;DM=PDHB/Transketolase_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:30:12:0:0:14,16:478,463:45.52,0.00:14.65,0.00:30.87,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,11.7:0,0:0,0:102,116:48,34:28,22:NM_000925.3(PDHB) c.701-64G>T,-:0.75,-:NOT_FOUND,- 3 58415966 . C . . NT END=58416383;NT GT ./. 3 58416535 rs1126551 C T 95 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=83;DB;DBA=in-clinvar;PAF=C/0.7953,T/0.2047;PC=0.001;Gene=PDHB/NR_033384.1/0;VC=NonCoding;Gene=PDHB/NM_000925.3/1;CC=c.438G>A;ProtCh=p.G146=;VC=Silent;Gene=PDHB/NM_001173468.1/0;CC=c.404-20G>A;VC=Intron;Gene=PDHB/NM_001315536/0;CC=c.384G>A;ProtCh=p.G128=;VC=Silent;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:48:0:0:50,33:1602,1039:0.00,95.41:0.00,41.78:0.00,53.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:36.7,69.1:1,0:0,0:82,69:63,77:32,34:-,NM_000925.3(PDHB) c.438G>A (p.(=)):-,0.22:-,0.066046 3 58416538 rs4264746 T C 285 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=80;DB;DBA=NA;PAF=T/0.01518,C/0.9848;PC=0.357;Gene=PDHB/NR_033384.1/0;VC=NonCoding;Gene=PDHB/NM_000925.3/1;CC=c.435A>G;ProtCh=p.R145=;VC=Silent;Gene=PDHB/NM_001173468.1/0;CC=c.404-23A>G;VC=Intron;Gene=PDHB/NM_001315536/0;CC=c.381A>G;ProtCh=p.R127=;VC=Silent;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:80:45:0:0:1,79:12,2477:0.18,284.75:0.00,127.72:0.18,157.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,50.3:0,0:0,0:3,77:148,69:0,34:NM_000925.3(PDHB) c.=,NM_000925.3(PDHB) c.=:0.99,0.99:0.979702,0.979702 3 58416670 . C . . NT END=58417319;NT GT ./. 3 58416770 rs138623728 T TTTA 32 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.7991,TTTA/0.2009;NP=296;PC=0.957;Gene=PDHB/NR_033384.1/0;VC=NonCoding;Gene=PDHB/NM_000925.3/1;CC=c.304-102_304-101insTAA;VC=Intron;Gene=PDHB/NM_001173468.1/0;CC=c.304-102_304-101insTAA;VC=Intron;Gene=PDHB/NM_001315536/0;CC=c.250-102_250-101insTAA;VC=Intron;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TTTA:31:4:12:1:19,12:601,356:0.00,32.34:0.00,1.15:0.00,31.19:0.00,1.00:0.00,0.86:0.00,1.00:60,60:13.1,24.9:1,0:0,0:136,110:15,41:13,14:-,NM_000925.3(PDHB) c.304-102_304-101insTAA:-,0.22:-,NOT_FOUND 3 58417356 . C . . NT END=58417457;NT GT ./. 3 58417416 rs62259772 C T 81 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.7953,T/0.2047;Gene=PDHB/NR_033384.1/0;VC=NonCoding;Gene=PDHB/NM_000925.3/1;CC=c.267+42G>A;VC=Intron;Gene=PDHB/NM_001173468.1/0;CC=c.267+42G>A;VC=Intron;Gene=PDHB/NM_001315536/0;CC=c.213+42G>A;VC=Intron;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr;DM=PDHB/Transket_pyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:62:48:0:0:35,27:1122,866:0.00,81.07:0.00,52.46:0.00,28.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,46.2:0,0:0,0:50,53:101,98:38,41:-,NM_000925.3(PDHB) c.267+42G>A:-,0.23:-,0.319083 3 58417521 . C . . NT END=58417603;NT GT ./. 3 58417712 . C . . NT END=58419357;NT GT ./. 3 58419537 . C . . NT END=58484482;NT GT ./. 3 58428619 rs58875237 ATG A 11 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=145;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:ATG,A:9:8:0:4:5,4:165,116:0.00,10.82:0.00,3.72:0.00,7.10:0.00,0.85:0.00,0.98:0.00,0.98:60,70:21.4,21.2:0,0:0,0:106,51:31,74:19,2:-,chr3 g.58428620_58428621delTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 58484510 . G . . NT END=58486672;NT GT ./. 3 58487360 . T . . NT END=58490950;NT GT ./. 3 58487415 . AT A 9 rn VT=DEL;SST=Single;DP=49;NP=3;PC=0.087;Gene=KCTD6/NM_001128214.1/1;CC=c.*67delT;VC=3UTR;Gene=KCTD6/NM_153331.3/0;CC=c.*67delT;VC=3UTR;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AT,T,I,A:49:9:2:4:41,2,2,4:1210,27,66,133:0.00,0.45,4.04,9.35:0.00,0.85,-0.08,1.18:0.00,-0.40,4.12,8.17:0.00,0.00,0.00,0.56:0.00,0.00,0.00,0.48:0.00,0.00,0.00,0.93:60,60,60,60:13.0,90.0,0.0,0.0:0,0,0,0:0,0,0,0:98,112,88,106:53,38,63,44:32,27,38,13:-,NM_153331.3(KCTD6) c.*57T[10]:-,NOT_FOUND:-,NOT_FOUND 3 58490665 rs4681858 C T 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7839,T/0.2161 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:C,T:4:4:0:0:1,3:14,97:0.00,10.17:0.00,10.17:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:60.0,45.7:0,0:0,0:145,92:5,59:0,0:-,chr3 g.58490664C>T (intergenic):-,0.21:-,NOT_FOUND 3 58491014 . C . . NT END=58494619;NT GT ./. 3 58494307 rs9647382 G A 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.07748,A/0.9225;PC=0.008;Gene=ACOX2/NM_003500.3/1;CC=c.1983+313C>T;VC=Intron;DM=ACOX2/ACOX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:118:13.71:13.71:0.00:1.00:1.00:0.00:60:56.0:0:0:32:118:5:NM_003500.3(ACOX2) c.1983+313C>T,NM_003500.3(ACOX2) c.1983+313C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 58494753 . C . . NT END=58502932;NT GT ./. 3 58494955 rs138206747 T TA 16 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.8864,TA/0.1136;NP=56;PC=0.867;Gene=ACOX2/NM_003500.3/1;CC=c.1851-204_1851-203insT;VC=Intron;DM=ACOX2/ACOX;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:75:T,TA:8:0:5:0:3,5:77,161:0.00,16.20:0.00,0.00:0.00,16.20:0.00,0.97:0.00,0.00:0.00,0.97:60,60:57.7,2.2:0,0:0,0:140,72:8,78:9,56:-,NM_003500.3(ACOX2) c.1851-204_1851-203insT:-,NOT_FOUND:-,NOT_FOUND 3 58502708 rs4681689 C A 10 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.8494,A/0.1506;Gene=ACOX2/NM_003500.3/1;CC=c.1850+225G>T;VC=Intron;DM=ACOX2/ACOX GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,C:5:5:0:0:3,2:100,68:9.97,0.00:9.97,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:33.3,0.0:0,0:0,0:111,40:40,110:9,33:NM_003500.3(ACOX2) c.1850+225G>T,-:0.15,-:NOT_FOUND,- 3 58503151 . C . . NT END=58508222;NT GT ./. 3 58508329 . C . . NT END=58510152;NT GT ./. 3 58510333 . C . . NT END=58512192;NT GT ./. 3 58512384 . C . . NT END=58514520;NT GT ./. 3 58514684 . C . . NT END=58516192;NT GT ./. 3 58516366 . C . . NT END=58516977;NT GT ./. 3 58516383 rs4387990 G A 106 nt VT=SNV;PN=C;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.7772,A/0.2228;PC=0.002;Gene=ACOX2/NM_003500.3/1;CC=c.820-18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:65:23:0:0:32,1,32:1098,12,1007:105.81,0.01,0.00:27.39,0.18,0.00:78.42,-0.17,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.8,155.0,7.9:0,0,0:0,0,0:108,78,107:36,57,35:17,0,29:NM_003500.3(ACOX2) c.820-18C>T,-:0.24,-:0.330694,- 3 58517094 . C . . NT END=58517419;NT GT ./. 3 58517540 . C . . NT END=58519171;NT GT ./. 3 58519280 . C . . NT END=58519720;NT GT ./. 3 58519873 . C . . NT END=58520086;NT GT ./. 3 58520306 rs7611026 G C 225 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.1302,C/0.8698,T/.;Gene=ACOX2/NM_003500.3/1;CC=c.161-57C>G;VC=Intron;DM=ACOX2/Acyl-CoA_ox_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:C:60:30:0:0:60:1966:225.10:71.62:153.48:1.00:1.00:1.00:60:43.1:0:0:95:54:28:NM_003500.3(ACOX2) c.161-57C>G,NM_003500.3(ACOX2) c.161-57C>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 58520336 . c . . NT END=58520673;NT GT ./. 3 58520834 . C . . NT END=58552314;NT GT ./. 3 58520859 rs4681862 A G 315 nt VT=SNV;PN=T;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=A/0.1302,G/0.8698;Gene=ACOX2/NM_003500.3/1;CC=c.-26T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:39:0:0:82:2758:314.88:91.77:223.11:1.00:1.00:1.00:60:41.8:0:0:100:44:25:NM_003500.3(ACOX2) c.-26T>C,NM_003500.3(ACOX2) c.-26T>C:0.88,0.88:0.840304,0.840304 3 58521124 rs4681863 A G 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1298,G/0.8702;Gene=ACOX2/NM_003500.3/1;CC=c.-91-200T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:152:17.57:0.00:17.57:1.00:0.00:1.00:60:66.6:0:0:116:35:22:NM_003500.3(ACOX2) c.-91-200T>C,NM_003500.3(ACOX2) c.-91-200T>C:0.88,0.88:NOT_FOUND,NOT_FOUND 3 58552329 rs11539086 C G 59 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=57;DB;DBA=NA;PAF=C/0.8912,G/0.1088;PC=1.000;Gene=FAM107A/NM_001076778.2/0;CC=c.421G>C;ProtCh=p.E141Q;VC=Missense;Gene=FAM107A/NM_007177.3/0;CC=c.421G>C;ProtCh=p.E141Q;VC=Missense;Gene=FAM107A/NM_001282713.1/0;CC=c.505G>C;ProtCh=p.E169Q;VC=Missense;Gene=FAM107A/NM_001282714.1/1;CC=c.514G>C;ProtCh=p.E172Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:57:49:0:0:37,20:1223,660:0.00,59.49:0.00,33.55:0.00,25.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,46.3:0,0:0,0:55,64:92,78:25,26:-,NM_007177.2(FAM107A) c.421G>C (p.Glu141Gln):-,0.1:-,0.119176 3 58552423 . C . . NT END=58552934;NT GT ./. 3 58553092 . C . . NT END=58555417;NT GT ./. 3 58553160 rs7637862 T G 87 nt VT=SNV;PN=T;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.4948,G/0.5052;Gene=FAM107A/NM_001076778.2/0;CC=c.171-69A>C;VC=Intron;Gene=FAM107A/NM_007177.3/0;CC=c.171-69A>C;VC=Intron;Gene=FAM107A/NM_001282713.1/0;CC=c.255-69A>C;VC=Intron;Gene=FAM107A/NM_001282714.1/1;CC=c.264-69A>C;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:60:22:0:0:26,34:920,1059:86.59,0.00:18.09,0.00:68.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.8,18.3:0,0:0,0:108,117:40,33:23,23:NM_007177.2(FAM107A) c.171-69A>C,-:0.5,-:NOT_FOUND,- 3 58553209 rs12486363 A G 59 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.7073,G/0.2927;Gene=FAM107A/NM_001076778.2/0;CC=c.171-118T>C;VC=Intron;Gene=FAM107A/NM_007177.3/0;CC=c.171-118T>C;VC=Intron;Gene=FAM107A/NM_001282713.1/0;CC=c.255-118T>C;VC=Intron;Gene=FAM107A/NM_001282714.1/1;CC=c.264-118T>C;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:0:0:0:15,20:499,597:0.00,58.87:0.00,0.00:0.00,58.87:0.00,1.00:0.00,0.00:0.00,1.00:60,60:34.5,43.4:0,0:0,0:89,96:62,53:37,36:-,NM_007177.2(FAM107A) c.171-118T>C:-,0.33:-,NOT_FOUND 3 58553302 rs7647828 G A 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.496,A/0.504;Gene=FAM107A/NM_001076778.2/0;CC=c.171-211C>T;VC=Intron;Gene=FAM107A/NM_007177.3/0;CC=c.171-211C>T;VC=Intron;Gene=FAM107A/NM_001282713.1/0;CC=c.255-211C>T;VC=Intron;Gene=FAM107A/NM_001282714.1/1;CC=c.264-211C>T;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:A,G,T:14:0:0:0:5,8,1:161,267,10:14.71,0.00,0.20:0.00,0.00,0.00:14.71,0.00,0.20:0.90,0.00,0.00:0.00,0.00,0.00:0.90,0.00,0.00:60,60,60:43.0,18.6,28.0:0,0,0:0,0,0:115,107,69:35,43,80:18,24,0:NM_007177.2(FAM107A) c.171-211C>T,-:0.5,-:NOT_FOUND,- 3 58555343 rs7632668 C T 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.4555,T/0.5445;Gene=FAM107A/NM_001076778.2/0;CC=c.170+75G>A;VC=Intron;Gene=FAM107A/NM_007177.3/0;CC=c.170+75G>A;VC=Intron;Gene=FAM107A/NM_001282713.1/0;CC=c.254+75G>A;VC=Intron;Gene=FAM107A/NM_001282714.1/1;CC=c.263+75G>A;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:28:0:0:12,18:396,554:0.00,55.16:0.00,48.90:0.00,6.26:0.00,1.00:0.00,1.00:0.00,0.78:60,60:0.0,66.2:0,0:0,0:41,47:109,102:20,24:-,NM_007177.2(FAM107A) c.170+75G>A:-,0.54:-,NOT_FOUND 3 58555386 rs7609991 G T 93 nt VT=SNV;PN=T;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.4503,A/.,T/0.5497;Gene=FAM107A/NM_001076778.2/0;CC=c.170+32C>A;VC=Intron;Gene=FAM107A/NM_007177.3/0;CC=c.170+32C>A;VC=Intron;Gene=FAM107A/NM_001282713.1/0;CC=c.254+32C>A;VC=Intron;Gene=FAM107A/NM_001282714.1/1;CC=c.263+32C>A;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:52:48:0:0:21,31:660,935:0.00,93.03:0.00,73.59:0.00,19.44:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.6,58.0:0,0:0,0:54,35:97,113:30,26:-,NM_007177.2(FAM107A) c.170+32C>A:-,0.54:-,0.388872 3 58555593 . C . . NT END=58556052;NT GT ./. 3 58556151 . C . . NT END=58563035;NT GT ./. 3 58556346 . G A 9 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;PC=0.023;Gene=FAM107A/NM_001076778.2/0;CC=c.-5-754C>T;VC=Intron;Gene=FAM107A/NM_007177.3/0;CC=c.-103-196C>T;VC=Intron;Gene=FAM107A/NM_001282713.1/0;CC=c.80-754C>T;VC=Intron;Gene=FAM107A/NM_001282714.1/1;CC=c.89-754C>T;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:46:A,G:5:0:0:0:3,2:92,48:9.18,0.00:0.00,0.00:9.18,0.00:0.78,0.00:0.00,0.00:0.78,0.00:58,60:34.3,5.5:0,0:0,0:133,31:6,120:1,0:NM_007177.2(FAM107A) c.-103-196C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 58563151 rs2306671 C T 124 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.6078,T/0.3922;PC=0.836;Gene=FAM107A/NM_001076778.2/0;CC=c.-121G>A;VC=5UTR;Gene=FAM107A/NM_007177.3/0;CC=c.-219G>A;VC=5UTR;Gene=FAM107A/NM_001282713.1/0;CC=c.80-7559G>A;VC=Intron;Gene=FAM107A/NM_001282714.1/1;CC=c.89-7559G>A;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:111:74:0:0:69,42:2163,1360:0.00,124.04:0.00,74.32:0.00,49.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.7,40.3:0,0:0,0:91,71:60,77:32,35:-,NM_007177.2(FAM107A) c.-219G>A:-,0.46:-,NOT_FOUND 3 58563492 . T . . NT END=58572584;NT GT ./. 3 58572835 . G . . NT END=58574932;NT GT ./. 3 58573201 rs569387305 AGT A 8 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=28;PC=0.007;Gene=FAM107A/NM_001282714.1/1;CC=c.88+1730_88+1731delAC;VC=Intron;DM=FAM107A/DUF1151;DM=FAM107A/DUF1151;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:AGT,A:9:6:0:3:6,3:163,87:0.00,7.65:0.00,2.63:0.00,5.02:0.00,0.64:0.00,0.42:0.00,0.92:60,70:3.8,45.0:0,0:0,0:119,49:26,102:16,5:-,chr3 g.58573202_58573203delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 58574997 . C . . NT END=58612697;NT GT ./. 3 58612404 rs1552307 G T 13 nt VT=SNV;PN=G;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.9515,T/0.04852;Gene=FAM107A/NM_001282714.1/1;CC=c.24+294C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:109:G,T:8:8:0:0:4,4:105,130:0.00,12.52:0.00,12.52:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:54.2,57.5:0,0:0,0:62,64:87,85:58,30:-,chr3 g.58612403G>T (intergenic):-,0.06:-,NOT_FOUND 3 58612424 rs1552306 T C 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.02815,C/0.9718;Gene=FAM107A/NM_001282714.1/1;CC=c.24+274A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:10:C:7:7:0:0:7:186:21.86:21.86:0.00:1.00:1.00:0.00:60:59.3:0:0:76:72:50:chr3 g.58612423T>C (intergenic),chr3 g.58612423T>C (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 3 58612485 rs11708352 G A 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.9355,A/0.0645;Gene=FAM107A/NM_001282714.1/1;CC=c.24+213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:A,G:12:12:0:0:7,5:210,130:20.83,0.00:20.83,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:63.1,35.8:0,0:0,0:29,32:120,119:24,28:chr3 g.58612484G>A (intergenic),-:0.07,-:NOT_FOUND,- 3 58612598 rs11708342 C T 45 nt VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=FAM107A/NM_001282714.1/1;CC=c.24+100G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:27:0:0:13,15:407,464:0.00,45.12:0.00,45.62:0.00,-0.50:0.00,1.00:0.00,1.00:0.00,0.82:60,60:6.0,40.4:0,0:0,0:81,91:68,60:62,27:-,chr3 g.58612597C>T (intergenic):-,0.07:-,NOT_FOUND 3 58612722 . G . . NT END=58620005;NT GT ./. 3 58620096 . C . . NT END=58622020;NT GT ./. 3 58621935 rs6791782 C T 246 nt VT=SNV;PN=C;NN=T;SST=Single;DP=67;DB;DBA=NA;PAF=C/0.02875,T/0.9712;Gene=FAM3D/NM_138805.2/1;CC=c.585+86G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:192:T:67:62:0:0:67:2140:245.82:189.60:56.23:1.00:1.00:1.00:60:44.0:0:0:56:92:33:NM_138805.2(FAM3D) c.585+86G>A,NM_138805.2(FAM3D) c.585+86G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 58622148 . C . . NT END=58622867;NT GT ./. 3 58622953 . C . . NT END=58625853;NT GT ./. 3 58625875 rs33966924 C A 112 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=59;DB;DBA=NA;PAF=C/0.9205,A/0.07947,T/.;Gene=FAM3D/NM_138805.2/1;CC=c.352G>T;ProtCh=p.A118S;VC=Missense;DM=FAM3D/ILEI;DM=FAM3D/ILEI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:59:46:0:0:34,25:1132,841:111.96,0.00:58.90,0.00:53.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,12.4:0,0:0,0:73,81:75,62:31,33:NM_138805.2(FAM3D) c.352G>T (p.Ala118Ser),-:0.1,-:0.148239,- 3 58625905 . C . . NT END=58629388;NT GT ./. 3 58625975 rs3749287 C G 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.5114,G/0.4886;PC=0.001;Gene=FAM3D/NM_138805.2/1;CC=c.323-71G>C;VC=Intron;DM=FAM3D/ILEI;DM=FAM3D/ILEI;DM=FAM3D/ILEI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:27:8:0:0:15,12:456,347:0.00,32.32:0.00,7.95:0.00,24.38:0.00,1.00:0.00,0.98:0.00,1.00:60,60:33.3,45.0:0,0:0,0:117,103:30,47:16,17:-,NM_138805.2(FAM3D) c.323-71G>C:-,0.44:-,0.445686 3 58629448 . C . . NT END=58631235;NT GT ./. 3 58629687 rs36020583 G C 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9343,C/0.06569;Gene=FAM3D/NM_138805.2/1;CC=c.264-240C>G;VC=Intron;DM=FAM3D/ILEI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:C,G:4:0:0:0:3,1:93,36:9.75,0.00:0.00,0.00:9.75,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:31.0,0.0:0,0:0,0:91,50:60,101:21,0:NM_138805.2(FAM3D) c.264-240C>G,-:0.09,-:NOT_FOUND,- 3 58631184 rs56017056 G GAAATA 87 nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6534,GAAATA/0.3466,GAAATAAAATA/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6534,GAAATA/0.3466;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=108;Gene=FAM3D/NM_138805.2/1;CC=c.263+51_263+52insTATTT;VC=Intron;DM=FAM3D/ILEI;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:GAAATA:24:23:24:0:24:757:87.13:72.63:14.51:1.00:1.00:1.00:70:3.5:0:0:43:106:30:NM_138805.2(FAM3D) c.263+51_263+52insTATTT,NM_138805.2(FAM3D) c.263+51_263+52insTATTT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 58631354 . C . . NT END=58635041;NT GT ./. 3 58635066 . C . . NT END=58639400;NT GT ./. 3 58635197 rs9811989 G A 79 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3784,A/0.6216;Gene=FAM3D/NM_138805.2/1;CC=c.122-132C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:A,C,G:26:1:0:0:24,1,1:695,9,8:79.17,0.23,0.00:1.87,0.00,0.00:77.30,0.23,0.00:1.00,0.00,0.00:0.95,0.00,0.00:1.00,0.00,0.00:60,60,60:66.5,31.0,10.0:0,0,0:0,0,0:92,6,9:45,143,142:37,0,0:NM_138805.2(FAM3D) c.122-132C>T,NM_138805.2(FAM3D) c.122-132C>T:0.59,0.59:NOT_FOUND,NOT_FOUND 3 58639509 . C . . NT END=58641277;NT GT ./. 3 58641291 . C . . NT END=58727732;NT GT ./. 3 58641352 rs57504511 C T 78 nt VT=SNV;PN=T;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=C/0.7762,T/0.2238;Gene=FAM3D/NM_138805.2/1;CC=c.-38-24G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:50:33:0:0:24,26:772,810:0.00,78.31:0.00,32.61:0.00,45.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,42.1:0,0:0,0:107,97:41,46:11,21:-,NM_138805.2(FAM3D) c.-38-24G>A:-,0.23:-,0.283399 3 58728300 . C . . NT END=58739495;NT GT ./. 3 58739591 . C . . NT END=58792120;NT GT ./. 3 58791930 . A G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;Gene=C3orf67/NM_198463.2/1;CC=c.1484+191T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,G:5:5:0:0:1,4:23,132:0.00,14.02:0.00,14.02:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:10.0,37.2:0,0:0,0:6,52:144,97:0,24:-,NM_198463.2(C3orf67) c.1484+191T>C:-,NOT_FOUND:-,NOT_FOUND 3 58792080 rs59197884 G GT 9 rn VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=118;PC=0.002;Gene=C3orf67/NM_198463.2/1;CC=c.1484+40dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:G,GT:23:22:4:0:19,4:637,119:0.00,9.20:0.00,6.49:0.00,2.71:0.00,0.69:0.00,0.96:0.00,0.66:60,60:15.0,51.8:0,0:0,0:53,54:93,97:37,23:-,NM_198463.2(C3orf67) c.1484+40_1484+41insA:-,NOT_FOUND:-,NOT_FOUND 3 58792183 . C . . NT END=58817411;NT GT ./. 3 58817616 . C . . NT END=58834757;NT GT ./. 3 58835136 . C . . NT END=58846953;NT GT ./. 3 58849096 . TA T 30 idl,rn VT=DEL;SST=Single;DP=96;NP=2;PC=0.946;Gene=C3orf67/NM_198463.2/1;CC=c.1218+187delT;VC=Intron;Gene=C3orf67-AS1/NR_110820.1/0;VC=NonCoding;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:165:A,TA,I,T:93:67:9:15:1,71,8,13:23,2140,273,452:0.53,0.00,17.03,29.55:0.66,0.00,10.30,16.09:-0.12,0.00,6.72,13.46:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.99:60,60,60,60:127.0,18.9,12.9,13.5:1,0,1,2:0,0,0,0:62,83,69,63:88,68,82,88:0,40,23,22:-,NM_198463.2(C3orf67) c.1218+187delT:-,NOT_FOUND:-,NOT_FOUND 3 58849619 . C . . NT END=58852291;NT GT ./. 3 58852415 . C . . NT END=58853542;NT GT ./. 3 58853663 . C . . NT END=58855053;NT GT ./. 3 58855217 . C . . NT END=58855898;NT GT ./. 3 58856036 . C . . NT END=58870270;NT GT ./. 3 58870436 . C . . NT END=58899433;NT GT ./. 3 58899591 . C . . NT END=58923373;NT GT ./. 3 58923489 . C . . NT END=58978233;NT GT ./. 3 58978342 . C . . NT END=59025282;NT GT ./. 3 59025356 . C . . NT END=59031954;NT GT ./. 3 59032049 . C . . NT END=59032890;NT GT ./. 3 59032981 . C . . NT END=59035336;NT GT ./. 3 59035386 . C . . NT END=59737951;NT GT ./. 3 59257163 rs67902262 CTG C,CTGTG 9 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=72;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:CTG,CTGTG,C:7:5:2:3:2,2,3:65,65,96:0.00,6.07,9.44:0.00,3.11,3.09:0.00,2.96,6.35:0.00,0.00,0.69:0.00,0.00,0.93:0.00,0.00,0.69:60,60,60:15.0,0.0,29.3:0,0,0:0,0,0:115,56,52:36,93,72:0,20,26:chr3 g.59257164_59257165delTG (intergenic),chr3 g.59257164_59257165dupTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 59738048 . C . . NT END=59908071;NT GT ./. 3 59814571 rs2629883 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.01777,G/0.9822;NP=392;Gene=FHIT/NM_001166243.1/0;CC=c.349-76524G>C;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.349-76524G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,G:4:4:0:0:1,3:12,103:0.00,10.78:0.00,8.86:0.00,1.93:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,76.7:1,1:0,0:131,75:20,75:0,15:-,NM_002012.2(FHIT) c.349-76524G>C:-,NOT_FOUND:-,NOT_FOUND 3 59814573 rs2629884 C G 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.01777,G/0.9822;NP=1;NP=405;Gene=FHIT/NM_001166243.1/0;CC=c.349-76526G>C;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.349-76526G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:4:0:0:1,3:35,90:0.00,9.45:0.00,7.52:0.00,1.93:0.00,0.85:0.00,0.85:0.00,0.83:60,60:0.0,82.7:1,0:0,0:133,34:18,116:0,5:-,NM_002012.2(FHIT) c.349-76526G>C:-,NOT_FOUND:-,NOT_FOUND 3 59856600 rs570784623 C CGTGT 13 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=268;NP=5;Gene=FHIT/NM_001166243.1/0;CC=c.348+51471_348+51472insACAC;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.348+51471_348+51472insACAC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:C,CGTGT:5:5:6:0:1,4:33,192:0.00,13.17:0.00,4.68:0.00,8.48:0.00,0.90:0.00,0.98:0.00,0.98:60,60:0.0,13.0:0,2:0,0:32,72:119,69:0,16:-,NM_002012.2(FHIT) c.348+51471_348+51472insACAC:-,NOT_FOUND:-,NOT_FOUND 3 59908141 . C . . NT END=59997096;NT GT ./. 3 59996879 rs140339034 A AATTTT 16 nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.7762,AATTTT/0.2238;NP=4;PC=0.924;Gene=FHIT/NM_001166243.1/0;CC=c.279+213_279+217dupAAAAT;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.279+213_279+217dupAAAAT;VC=Intron;DM=FHIT/HIT;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,AATTTT:9:9:5:0:4,5:130,162:0.00,15.90:0.00,15.90:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:70.2,0.0:0,0:0,0:37,87:113,61:17,38:-,NM_002012.2(FHIT) c.279+217_279+218insAAAAT:-,0.21:-,NOT_FOUND 3 59996927 rs4679626 T C 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6546,C/0.3454;PC=0.995;Gene=FHIT/NM_001166243.1/0;CC=c.279+170A>G;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.279+170A>G;VC=Intron;DM=FHIT/HIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:C,T:12:12:0:0:5,7:169,201:15.76,0.00:15.76,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:83.8,31.6:0,0:0,0:63,56:88,77:27,18:NM_002012.2(FHIT) c.279+170A>G,-:0.37,-:NOT_FOUND,- 3 59996969 rs4679627 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.5343,T/0.4657;PC=0.057;Gene=FHIT/NM_001166243.1/0;CC=c.279+128G>A;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.279+128G>A;VC=Intron;DM=FHIT/HIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:19:0:0:11,8:356,240:0.00,22.17:0.00,22.17:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:22.2,61.6:0,0:0,0:50,65:100,85:43,47:-,NM_002012.2(FHIT) c.279+128G>A:-,0.47:-,NOT_FOUND 3 59997127 . C . . NT END=59999732;NT GT ./. 3 59997301 rs72147629 CTGAGAG C 12 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CTGAGAG/0.5799,C/0.4201;DB;DBA=NA;PAF=CTGAGAG/0.5799,C/0.4201;NP=678;PC=0.986;Gene=FHIT/NM_001166243.1/0;CC=c.250-181_250-176delCTCTCA;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.250-181_250-176delCTCTCA;VC=Intron;DM=FHIT/HIT;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:118:CTGAGAG,C:9:0:0:4:5,4:110,125:0.00,11.73:0.00,0.00:0.00,11.73:0.00,0.85:0.00,0.00:0.00,0.85:60,60:40.0,0.0:0,0:0,0:60,76:91,73:9,8:-,NM_002012.2(FHIT) c.250-181_250-176delCTCTCA:-,0.42:-,NOT_FOUND 3 59999690 rs13067835 T C 147 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.7053,C/0.2947,G/.;PC=0.013;Gene=FHIT/NM_001166243.1/0;CC=c.249+43A>G;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.249+43A>G;VC=Intron;DM=FHIT/HIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:111:C:41:36:0:0:41:1277:147.03:120.00:27.03:1.00:1.00:1.00:60:37.0:0:0:40:110:26:NM_002012.2(FHIT) c.249+43A>G,NM_002012.2(FHIT) c.249+43A>G:0.32,0.32:0.354067,0.354067 3 59999879 . C . . NT END=60522592;NT GT ./. 3 60107436 . AAC A 7 rn VT=DEL;SST=Single;DP=4;NP=9;Gene=FHIT/NM_001166243.1/0;CC=c.104-107560_104-107559delGT;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.104-107560_104-107559delGT;VC=Intron;DM=FHIT/HIT;DM=FHIT/HIT;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:14:AAC,A:3:3:0:3:1,2:18,98:0.00,6.55:0.00,3.43:0.00,3.13:0.00,0.51:0.00,0.89:0.00,0.89:19,70:135.0,50.5:1,1:0,0:66,87:41,51:0,27:-,NM_002012.2(FHIT) c.104-107560_104-107559delGT:-,NOT_FOUND:-,NOT_FOUND 3 60243793 rs58869957 T TACAC 6 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=3;NP=31;NP=32;PC=0.007;Gene=FHIT/NM_001166243.1/0;CC=c.104-243916_104-243915insGTGT;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.104-243916_104-243915insGTGT;VC=Intron;DM=FHIT/HIT;DM=FHIT/HIT;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:T,TACAC:4:4:3:0:2,2:67,99:0.00,6.31:0.00,3.22:0.00,3.10:0.00,0.46:0.00,0.87:0.00,0.87:60,60:0.0,0.0:0,1:0,0:83,59:40,75:23,7:-,NM_002012.2(FHIT) c.104-243916_104-243915insGTGT:-,NOT_FOUND:-,NOT_FOUND 3 60509930 . GACACACAC G 7 rn VT=DEL;SST=Single;DP=4;NP=8;PC=0.001;Gene=FHIT/NM_001166243.1/0;CC=c.103+12655_103+12662delGTGTGTGT;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.103+12655_103+12662delGTGTGTGT;VC=Intron;DM=FHIT/HIT;DM=FHIT/HIT;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GACACACAC,G:3:4:0:3:1,2:33,101:0.00,6.85:0.00,6.80:0.00,0.05:0.00,0.51:0.00,0.51:0.00,0.79:60,60:9.0,11.0:0,1:0,0:68,36:83,114:0,4:-,NM_002012.2(FHIT) c.103+12655_103+12662delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 60522571 . C CA 12 rn VT=INS;SST=Single;DP=55;NP=10;Gene=FHIT/NM_001166243.1/0;CC=c.103+21dupT;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.103+21dupT;VC=Intron;DM=FHIT/HIT;DM=FHIT/HIT;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,C,CA,D:55:48:6:1:1,47,6,1:9,1370,177,34:-0.24,0.00,12.45,1.77:-0.28,0.00,7.50,0.79:0.04,0.00,4.94,0.97:0.00,0.00,0.83,0.00:0.00,0.00,0.98,0.00:0.00,0.00,0.87,0.00:60,60,60,60:21.0,10.3,10.0,0.0:0,0,0,0:0,0,0,0:29,74,43,61:121,75,88,73:0,44,17,0:-,NM_002012.2(FHIT) c.103+21_103+22insT:-,NOT_FOUND:-,NOT_FOUND 3 60522713 . C . . NT END=60523191;NT GT ./. 3 60523212 . C . . NT END=60539062;NT GT ./. 3 60523330 rs2594257 C T 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.2384,T/0.7616;Gene=FHIT/NM_001166243.1/0;CC=c.-17-618G>A;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-17-618G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:0:0:0:15:454:52.53:0.00:52.53:1.00:0.00:1.00:60:41.5:0:0:97:52:31:NM_002012.2(FHIT) c.-17-618G>A,NM_002012.2(FHIT) c.-17-618G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 3 60538865 rs180983 C A 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.5773,A/0.4227;Gene=FHIT/NM_001166243.1/0;CC=c.-17-16153G>T;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-17-16153G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:A,C:4:4:0:0:3,1:86,33:9.05,0.00:9.05,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:28.7,0.0:0,0:0,0:127,5:23,146:21,0:NM_002012.2(FHIT) c.-17-16153G>T,-:0.45,-:NOT_FOUND,- 3 60539126 . G . . NT END=60581851;NT GT ./. 3 60539235 . AATATAT A 10 nt VT=DEL;SST=Single;DP=18;PC=0.001;Gene=FHIT/NM_001166243.1/0;CC=c.-17-16529_-17-16524delATATAT;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-17-16529_-17-16524delATATAT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:AATATAT,T,A:18:4:0:5:13,1,4:401,8,123:0.00,-0.06,10.18:0.00,-0.06,-0.27:0.00,0.00,10.45:0.00,0.00,0.73:0.00,0.00,0.64:0.00,0.00,0.96:60,60,60:45.3,38.0,103.0:1,0,0:0,0,0:125,34,73:26,87,77:20,0,18:-,NM_002012.2(FHIT) c.-17-16529_-17-16524delATATAT:-,NOT_FOUND:-,NOT_FOUND 3 60539253 rs74479213 T G 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;PC=0.017;Gene=FHIT/NM_001166243.1/0;CC=c.-17-16541A>C;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-17-16541A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:11:G,T:15:0:0:1:13,2:402,40:44.00,0.00:0.00,0.00:44.00,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:76.2,19.0:0,0:0,0:96,94:55,42:28,42:NM_002012.2(FHIT) c.-17-16541A>C,-:0.54,-:NOT_FOUND,- 3 60539268 rs71619243 G A 27 nt VT=SNV;PN=G;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=NA;Gene=FHIT/NM_001166243.1/0;CC=c.-17-16556C>T;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-17-16556C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:45:A,G,D:12:0:0:2:8,3,1:262,68,55:27.12,0.00,2.26:0.00,0.00,0.00:27.12,0.00,2.26:1.00,0.00,0.00:0.00,0.00,0.00:1.00,0.00,0.00:60,60,60:105.8,29.7,97.0:1,0,1:0,0,0:92,38,100:52,113,50:25,20,11:NM_002012.2(FHIT) c.-17-16556C>T,-:0.29,-:NOT_FOUND,- 3 60539270 rs71619244 A G 9 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=1;NP=12;Gene=FHIT/NM_001166243.1/0;CC=c.-17-16558T>C;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-17-16558T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:A,G:12:0:0:2:8,4:238,107:0.00,9.29:0.00,0.00:0.00,9.29:0.00,0.80:0.00,0.00:0.00,0.80:60,60:60.1,113.5:1,0:0,0:77,88:59,62:38,32:-,NM_002012.2(FHIT) c.-17-16558T>C:-,NOT_FOUND:-,NOT_FOUND 3 60581856 . T . . NT END=61547961;NT GT ./. 3 60582046 rs2856021 G T 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.1753,A/.,T/0.8247;Gene=FHIT/NM_001166243.1/0;CC=c.-17-59334C>A;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-17-59334C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:22:0:0:0:15,7:509,238:0.00,21.17:0.00,0.00:0.00,21.17:0.00,0.97:0.00,0.00:0.00,0.97:60,60:4.5,36.4:0,0:0,0:69,78:82,72:13,24:-,NM_002012.2(FHIT) c.-17-59334C>A:-,0.84:-,NOT_FOUND 3 60717960 rs1716742 T C 90 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.1607,C/0.8393,G/.;PC=0.090;Gene=FHIT/NM_001166243.1/0;CC=c.-18+89653A>G;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-18+89653A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:C:24:19:0:0:24:788:90.25:61.13:29.11:1.00:1.00:1.00:60:37.0:0:0:52:98:41:NM_002012.2(FHIT) c.-18+89653A>G,NM_002012.2(FHIT) c.-18+89653A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 60897043 rs55695297 G GCACA 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.4685,GC/.,GCA/0.5315,GCACA/.;DB;DBA=NA;PAF=NA;NP=120;NP=48;Gene=FHIT/NM_001166243.1/0;CC=c.-110-89339_-110-89338insTGTG;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-110-89339_-110-89338insTGTG;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:101:G,GCACA:6:5:3:0:3,3:106,99:0.00,9.52:0.00,8.24:0.00,1.29:0.00,0.73:0.00,0.96:0.00,0.79:60,60:11.7,0.0:0,0:0,0:52,57:99,92:45,2:-,NM_002012.2(FHIT) c.-110-89339_-110-89338insTGTG:-,NOT_FOUND:-,NOT_FOUND 3 60913268 rs11714964 G A 9 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.3718,A/0.6282;PC=0.273;Gene=FHIT/NM_001166243.1/0;CC=c.-110-105563C>T;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-110-105563C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:8:6:0:0:3,5:99,145:9.03,0.00:7.67,0.00:1.37,0.00:0.67,0.00:0.93,0.00:0.78,0.00:60,60:61.7,14.0:0,0:0,0:107,77:44,74:0,35:NM_002012.2(FHIT) c.-110-105563C>T,-:0.59,-:NOT_FOUND,- 3 60970457 rs58578875 GGTGT G 6 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=49;PC=0.093;Gene=FHIT/NM_001166243.1/0;CC=c.-111+57258_-111+57261delACAC;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-111+57258_-111+57261delACAC;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:GGTGT,G:3:3:0:3:1,2:32,93:0.00,6.45:0.00,6.75:0.00,-0.30:0.00,0.51:0.00,0.89:0.00,0.67:60,60:0.0,99.5:0,1:0,0:125,41:26,109:0,11:-,NM_002012.2(FHIT) c.-111+57258_-111+57261delACAC:-,NOT_FOUND:-,NOT_FOUND 3 61050968 rs73110341 T C,TAC 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=23;NP=309;NP=4;NP=4;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:27:C,TAC:4:1:1:0:3,1:107,33:11.76,3.18:1.93,0.00:9.83,3.18:0.85,0.00:0.83,0.00:0.85,0.00:60,60:75.3,33.0:1,0:0,0:62,110:86,41:4,0:NM_002012.2(FHIT) c.-163-23197A>G,NM_002012.2(FHIT) c.-163-23198_-163-23197insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 61119740 rs76724077 C T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.6675,T/0.3325;Gene=FHIT/NM_001166243.1/0;CC=c.-164+66551G>A;VC=Intron;Gene=FHIT/NM_002012.2/1;CC=c.-164+66551G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:152:17.58:9.24:8.34:1.00:1.00:1.00:60:37.2:0:0:29:122:17:NM_002012.2(FHIT) c.-164+66551G>A,NM_002012.2(FHIT) c.-164+66551G>A:0.32,0.32:NOT_FOUND,NOT_FOUND 3 61119773 rs28575473 T C,TACCCACAC 10 idl,nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=120;NP=3;NP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:68:C,TACCCACAC:5:4:5:0:2,3:70,164:6.86,10.23:5.10,6.92:1.77,3.31:0.00,0.69:0.00,0.89:0.00,0.89:60,60:63.0,40.3:0,2:0,0:14,45:115,106:2,17:NM_002012.2(FHIT) c.-164+66518A>G,NM_002012.2(FHIT) c.-164+66517_-164+66518insGTGTGGGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 61406035 rs61358628 C CTGTG 19 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=28;NP=77;PC=0.002;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CTGTG:5:4:5:0:5:169:19.28:13.62:5.67:1.00:1.00:1.00:60:3.6:0:0:48:102:14:chr3 g.61406035_61406036insTGTG (intergenic),chr3 g.61406035_61406036insTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 61415824 rs373719219 A AAC 14 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=4;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,AAC:5:5:5:0:1,4:22,163:0.00,13.73:0.00,10.65:0.00,3.08:0.00,0.93:0.00,0.99:0.00,0.97:60,60:84.0,88.0:0,1:0,0:40,16:109,135:0,3:-,chr3 g.61415824_61415825insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 61415826 rs68094941 A C 24 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1044,AC/0.8956;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:208:23.66:15.56:8.10:1.00:1.00:1.00:60:73.2:5:0:26:118:7:chr3 g.61415825A>C (intergenic),chr3 g.61415825A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 61415828 rs71100956 A C 23 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.2001,C/0.7999;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=214;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:206:23.46:15.41:8.05:1.00:1.00:1.00:60:73.2:4:0:28:116:7:chr3 g.61415827A>C (intergenic),chr3 g.61415827A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 61522277 . CAT C 10 nt VT=DEL;SST=Single;DP=5;NP=117;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:CAT,C:5:4:0:3:2,3:57,97:0.00,9.67:0.00,2.81:0.00,6.86:0.00,0.78:0.00,0.97:0.00,0.97:60,60:12.0,3.0:0,0:0,0:108,105:12,46:40,36:-,chr3 g.61522278_61522279delAT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 61548047 . G . . NT END=61644983;NT GT ./. 3 61644960 rs7618977 C G 72 nt VT=SNV;PN=T;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.2083,G/0.7917;Gene=PTPRG/NM_002841.3/1;CC=c.86-89592C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:40:0:0:24,23:764,750:0.00,71.82:0.00,63.41:0.00,8.41:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.6,66.1:0,0:0,0:45,47:104,104:38,39:-,NM_002841.3(PTPRG) c.86-89592C>G:-,0.79:-,NOT_FOUND 3 61645028 rs7619155 G A 75 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.2067,A/0.7933;PC=0.008;Gene=PTPRG/NM_002841.3/1;CC=c.86-89524G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:56:45:0:0:24,32:800,899:74.93,0.00:45.46,0.00:29.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.1,7.5:0,0:0,0:66,67:84,82:26,21:NM_002841.3(PTPRG) c.86-89524G>A,-:0.79,-:NOT_FOUND,- 3 61645122 . G . . NT END=61734551;NT GT ./. 3 61645378 rs2365933 T C 15 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2314,C/0.7686;PC=0.002;Gene=PTPRG/NM_002841.3/1;CC=c.86-89174T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:130:14.91:0.00:14.91:1.00:0.00:1.00:60:32.5:0:0:133:16:4:NM_002841.3(PTPRG) c.86-89174T>C,NM_002841.3(PTPRG) c.86-89174T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 3 61651134 rs4688265 G T 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.04553,T/0.9545;PC=0.001;Gene=PTPRG/NM_002841.3/1;CC=c.86-83418G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:4:0:0:5:146:16.98:9.67:7.30:1.00:1.00:1.00:60:71.6:0:0:80:71:34:NM_002841.3(PTPRG) c.86-83418G>T,NM_002841.3(PTPRG) c.86-83418G>T:0.96,0.96:NOT_FOUND,NOT_FOUND 3 61651143 rs367677044 T TACAC 10 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4828,TAC/.,TACAC/0.5172;DB;DBA=NA;PAF=T/0.4828,TAC/.,TACAC/0.5172,TACACACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=36;NP=38;PC=0.002;Gene=PTPRG/NM_002841.3/1;CC=c.86-83374_86-83373insCACA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TACAC:4:5:5:0:1,3:33,159:0.00,9.63:0.00,6.45:0.00,3.18:0.00,0.73:0.00,0.96:0.00,0.51:60,60:110.0,96.0:0,2:0,0:123,17:27,124:0,10:-,NM_002841.3(PTPRG) c.86-83409_86-83408insACAC:-,NOT_FOUND:-,NOT_FOUND 3 61727958 rs11925112 A G 21 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.7875,G/0.2125;Gene=PTPRG/NM_002841.3/1;CC=c.86-6594A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:A,G:8:8:0:0:2,6:58,203:0.00,21.21:0.00,21.21:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.0,70.5:0,0:0,0:12,20:133,130:11,10:-,NM_002841.3(PTPRG) c.86-6594A>G:-,0.22:-,NOT_FOUND 3 61728256 rs680294 G T 130 nt VT=SNV;PN=G;NN=C;SST=Single;DP=71;DB;DBA=NA;PAF=G/0.4427,C/.,T/0.5573;PC=1.000;Gene=PTPRG/NM_002841.3/1;CC=c.86-6296G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:71:53:0:0:1,28,42:31,911,1307:1.56,0.00,130.21:-0.11,0.00,71.24:1.67,0.00,58.97:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:42,60,60:31.0,1.9,36.8:0,0,0:0,0,0:137,47,74:14,103,71:0,30,41:-,NM_002841.3(PTPRG) c.86-6296G>T:-,0.57:-,NOT_FOUND 3 61728463 rs3817451 T C 110 nt VT=SNV;PN=A;NN=A;SST=Single;DP=71;DB;DBA=NA;PAF=T/0.7662,C/0.2338;PC=1.000;Gene=PTPRG/NM_002841.3/1;CC=c.86-6089T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:71:37:0:0:34,37:1154,1180:110.29,0.00:35.88,0.00:74.40,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:50.2,8.6:0,0:0,0:91,92:60,59:39,35:NM_002841.3(PTPRG) c.86-6089T>C,-:0.25,-:NOT_FOUND,- 3 61728564 rs3817452 G A 199 nt VT=SNV;PN=A;NN=T;SST=Single;DP=54;DB;DBA=NA;PAF=G/0.271,A/0.729;PC=1.000;Gene=PTPRG/NM_002841.3/1;CC=c.86-5988G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:152:A:54:30:0:0:54:1732:198.92:94.77:104.15:1.00:1.00:1.00:60:58.2:0:0:99:46:25:NM_002841.3(PTPRG) c.86-5988G>A,NM_002841.3(PTPRG) c.86-5988G>A:0.74,0.74:NOT_FOUND,NOT_FOUND 3 61728634 rs3817453 G A 148 nt VT=SNV;PN=C;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.2718,A/0.7282;PC=1.000;Gene=PTPRG/NM_002841.3/1;CC=c.86-5918G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:A:40:30:0:0:40:1286:147.66:92.92:54.75:1.00:1.00:1.00:60:70.5:0:0:60:89:36:NM_002841.3(PTPRG) c.86-5918G>A,NM_002841.3(PTPRG) c.86-5918G>A:0.76,0.76:NOT_FOUND,NOT_FOUND 3 61728724 rs584959 C T 122 nt VT=SNV;PN=C;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.514,T/0.486;PC=0.008;Gene=PTPRG/NM_002841.3/1;CC=c.86-5828C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:75:52:0:0:38,37:1153,1266:0.00,121.73:0.00,62.56:0.00,59.17:0.00,1.00:0.00,1.00:0.00,1.00:60,60:55.8,77.9:0,0:0,0:68,79:79,66:39,33:-,NM_002841.3(PTPRG) c.86-5828C>T:-,0.5:-,NOT_FOUND 3 61728761 rs633429 T C 236 nt VT=SNV;PN=T;NN=G;SST=Single;DP=65;DB;DBA=NA;PAF=NA;PC=0.914;Gene=PTPRG/NM_002841.3/1;CC=c.86-5791T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:C:65:44:0:0:65:2057:236.43:109.03:127.40:1.00:1.00:1.00:60:69.6:0:0:99:44:29:NM_002841.3(PTPRG) c.86-5791T>C,NM_002841.3(PTPRG) c.86-5791T>C:0.76,0.76:NOT_FOUND,NOT_FOUND 3 61728831 rs585388 A G 126 nt VT=SNV;PN=T;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.2712,G/0.7288;PC=1.000;Gene=PTPRG/NM_002841.3/1;CC=c.86-5721A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:G:34:16:0:0:34:1096:125.72:42.91:82.81:1.00:1.00:1.00:60:76.5:0:0:119:30:17:NM_002841.3(PTPRG) c.86-5721A>G,NM_002841.3(PTPRG) c.86-5721A>G:0.76,0.76:NOT_FOUND,NOT_FOUND 3 61734400 . G GT 9 idl,rn VT=INS;SST=Single;DP=12;PC=0.013;Gene=PTPRG/NM_002841.3/1;CC=c.86-138dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:G,GT,D:11:12:3:4:5,3,3:149,97,112:0.00,8.70,7.10:0.00,8.70,7.10:0.00,0.00,0.00:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.00,0.00:60,60,60:47.4,15.0,35.0:0,0,1:0,0,0:30,48,49:121,103,102:14,2,3:-,NM_002841.3(PTPRG) c.86-152_86-151insT:-,NOT_FOUND:-,NOT_FOUND 3 61734539 rs3821880 T C 66 nt VT=SNV;PN=T;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.404,C/0.596;PC=0.009;Gene=PTPRG/NM_002841.3/1;CC=c.86-13T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:38:31:0:0:21,17:677,483:66.42,0.00:43.73,0.00:22.69,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,17.9:0,0:0,0:35,75:116,76:30,32:NM_002841.3(PTPRG) c.86-13T>C,-:0.61,-:0.555205,- 3 61734657 . G . . NT END=61975298;NT GT ./. 3 61975479 . G . . NT END=61989022;NT GT ./. 3 61989172 . G . . NT END=62063836;NT GT ./. 3 62022657 rs75920817 G GCACA 7 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=117;NP=22;NP=3;NP=8;Gene=PTPRG/NM_002841.3/1;CC=c.519+33512_519+33513insCACA;VC=Intron;DM=PTPRG/Carb_anhydrase;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GCACA:2:5:5:0:2:169:6.96:0.05:6.91:0.46:0.46:0.87:70:48.0:3:0:57:94:2:NM_002841.3(PTPRG) c.519+33486_519+33487insCACA,NM_002841.3(PTPRG) c.519+33486_519+33487insCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 62063933 . G . . NT END=62118275;NT GT ./. 3 62077737 . GACACACACACACACACACACACACACAC G 8 nt VT=DEL;SST=Single;DP=6;Gene=PTPRG/NM_002841.3/1;CC=c.615+13845_615+13872delCACACACACACACACACACACACACACA;VC=Intron;DM=PTPRG/Carb_anhydrase;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:GACACACACACACACACACACACACACAC,G:5:4:0:4:2,3:38,112:0.00,7.93:0.00,3.67:0.00,4.26:0.00,0.73:0.00,0.51:0.00,0.89:60,60:0.0,40.0:0,1:0,0:94,55:40,94:7,24:-,NM_002841.3(PTPRG) c.615+13806_615+13833delACACACACACACACACACACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 62110285 rs57781362 TGACCGCGAGGGAAGGTGA T 30 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=TGACCGCGAGGGAAGGTGA/0.4519,T/0.5481;DB;DBA=NA;PAF=TGACCGCGAGGGAAGGTGA/0.4519,T/0.5481;NP=1319;PC=0.978;Gene=PTPRG/NM_002841.3/1;CC=c.616-7985_616-7968delCGAGGGAAGGTGAGACCG;VC=Intron;DM=PTPRG/Carb_anhydrase;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TGACCGCGAGGGAAGGTGA,T:28:4:0:11:17,11:535,333:0.00,30.40:0.00,1.20:0.00,29.20:0.00,1.00:0.00,0.87:0.00,1.00:60,70:18.7,1.8:0,0:0,0:128,101:23,48:19,27:-,NM_002841.3(PTPRG) c.616-7990_616-7973delGACCGCGAGGGAAGGTGA:-,0.56:-,NOT_FOUND 3 62110366 rs13065389 C T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8826,T/0.1174;PC=0.409;Gene=PTPRG/NM_002841.3/1;CC=c.616-7910C>T;VC=Intron;DM=PTPRG/Carb_anhydrase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:14:1:0:0:7,7:187,237:0.00,22.83:0.00,1.84:0.00,20.99:0.00,1.00:0.00,0.67:0.00,1.00:60,60:11.3,35.6:0,0:0,0:81,101:52,50:17,12:-,NM_002841.3(PTPRG) c.616-7910C>T:-,0.11:-,NOT_FOUND 3 62118343 . G . . NT END=62142740;NT GT ./. 3 62142899 . G . . NT END=62153644;NT GT ./. 3 62153605 rs61078615 G GT 71 rn VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.7069,GT/0.2931;DB;DBA=NA;PAF=G/0.7069,GT/0.2931,GTT/.;NP=664;PC=0.002;Gene=PTPRG/NM_002841.3/1;CC=c.841-30dupT;VC=Intron;DM=PTPRG/Carb_anhydrase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:171:G,GT:29:27:22:1:7,22:207,679:0.00,71.43:0.00,55.99:0.00,15.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,26.5:1,0:0,0:106,49:32,101:21,33:-,NM_002841.3(PTPRG) c.841-40_841-39insT:-,NOT_FOUND:-,NOT_FOUND 3 62153838 . G . . NT END=62177142;NT GT ./. 3 62176959 rs370898378 AGAGAGG A 10 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=AGAGAGG/0.871,A/0.129;DB;DBA=NA;PAF=AGAGAGG/0.871,A/0.129;NP=47;Gene=PTPRG/NM_002841.3/1;CC=c.1034-179_1034-174delGGGAGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:AGAGAGG,A:8:8:0:4:4,4:104,108:0.00,10.31:0.00,10.31:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:17.2,56.8:0,0:0,0:117,66:33,83:7,26:-,NM_002841.3(PTPRG) c.1034-183_1034-178delGAGAGG:-,0.13:-,NOT_FOUND 3 62176973 rs74949181 A T 11 idl,nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8654,T/0.1346;NP=2;Gene=PTPRG/NM_002841.3/1;CC=c.1034-170A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:115:A,T:8:8:0:0:4,4:112,115:0.00,11.00:0.00,11.00:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:17.2,56.8:0,4:0,0:131,74:19,75:7,26:-,NM_002841.3(PTPRG) c.1034-170A>T:-,NOT_FOUND:-,NOT_FOUND 3 62177328 . G . . NT END=62180735;NT GT ./. 3 62180845 . G . . NT END=62187178;NT GT ./. 3 62187229 . G . . NT END=62188846;NT GT ./. 3 62188623 rs2063204 A G 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.01458,G/0.9854;Gene=PTPRG/NM_002841.3/1;CC=c.1378-224A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G,T:14:14:0:0:13,1:348,11:40.45,0.53:40.45,0.53:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.2,19.0:0,0:0,0:56,95:95,56:26,0:NM_002841.3(PTPRG) c.1378-224A>G,NM_002841.3(PTPRG) c.1378-224A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 62189189 rs2292245 G A 229 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=160;DB;DBA=NA;PAF=G/0.7825,A/0.2175;Gene=PTPRG/NM_002841.3/1;CC=c.1720G>A;ProtCh=p.G574S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:160:109:0:0:74,1,85:2414,6,2404:229.05,-0.20,0.00:120.02,-0.13,0.00:109.03,-0.07,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:43.4,163.0,20.4:0,0,0:0,0,0:79,134,71:67,-4,77:30,0,44:NM_002841.3(PTPRG) c.1720G>A (p.Gly574Ser),-:0.18,-:0.150732,- 3 62189437 rs17634074 G C 252 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=201;DB;DBA=NA;PAF=G/0.8938,A/.,C/0.1062;Gene=PTPRG/NM_002841.3/1;CC=c.1968G>C;ProtCh=p.T656=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:201:142:0:0:2,87,112:28,2694,3420:0.03,251.68,0.00:0.27,134.11,0.00:-0.24,117.57,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:75.5,41.0,6.9:0,0,0:0,0,0:38,71,65:112,75,75:31,45,35:NM_002841.3(PTPRG) c.1968G>C (p.(=)),-:0.09,-:0.136322,- 3 62189625 . G . . NT END=62204524;NT GT ./. 3 62204658 . G . . NT END=62216898;NT GT ./. 3 62216986 . G . . NT END=62229480;NT GT ./. 3 62229553 rs1352882 C T 75 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.02196,T/0.978;PC=0.983;Gene=PTPRG/NM_002841.3/1;CC=c.2448C>T;ProtCh=p.I816=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:12:0:0:20:650:74.54:28.33:46.21:1.00:1.00:1.00:60:33.3:0:0:82:59:32:NM_002841.3(PTPRG) c.2448C>T (p.(=)),NM_002841.3(PTPRG) c.2448C>T (p.(=)):0.98,0.98:0.977007,0.977007 3 62229573 . G . . NT END=62240798;NT GT ./. 3 62240891 . G . . NT END=62248472;NT GT ./. 3 62248570 . G . . NT END=62253084;NT GT ./. 3 62251571 rs75754920 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6735,TAC/0.3265,TACAC/.;DB;DBA=NA;PAF=T/0.6735,TAC/0.3265,TACAC/.;DB;DBA=NA;PAF=NA;NP=1;NP=186;NP=3;PC=0.051;Gene=PTPRG/NM_002841.3/1;CC=c.2657-1514T>C;VC=Intron;Gene=PTPRG-AS1/NR_038281.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038282.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038283.1/0;VC=NonCoding;DM=PTPRG/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:4:3:0:0:3,1:100,31:10.45,0.00:6.60,0.00:3.85,0.00:0.85,0.00:0.99,0.00:0.83,0.00:60,60:92.7,7.0:0,0:0,0:95,136:31,15:42,0:NM_002841.3(PTPRG) c.2657-1514T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 62253168 . G . . NT END=62253359;NT GT ./. 3 62253495 . G . . NT END=62254709;NT GT ./. 3 62254845 . G . . NT END=62257057;NT GT ./. 3 62257231 . G . . NT END=62258620;NT GT ./. 3 62258757 . G . . NT END=62259372;NT GT ./. 3 62258871 rs35559789 G A 46 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.9205,A/0.07947;PC=0.394;Gene=PTPRG/NM_002841.3/1;CC=c.3318+115G>A;VC=Intron;Gene=PTPRG-AS1/NR_038281.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038282.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038283.1/0;VC=NonCoding;DM=PTPRG/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:3:0:0:16,15:476,484:45.88,0.00:1.48,0.00:44.40,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:42.0,1.3:0,0:0,0:104,115:47,36:34,28:NM_002841.3(PTPRG) c.3318+115G>A,-:0.08,-:NOT_FOUND,- 3 62259520 . G . . NT END=62261547;NT GT ./. 3 62261642 . G . . NT END=62262646;NT GT ./. 3 62262724 . G . . NT END=62263225;NT GT ./. 3 62263116 rs9823242 T C 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.8646,C/0.1354;PC=0.001;Gene=PTPRG/NM_002841.3/1;CC=c.3637-110T>C;VC=Intron;Gene=PTPRG-AS1/NR_038281.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038282.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038283.1/0;VC=NonCoding;DM=PTPRG/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:24:0:0:12,12:379,360:36.40,0.00:34.81,0.00:1.59,0.00:1.00,0.00:1.00,0.00:0.89,0.00:60,60:42.2,28.5:0,0:0,0:22,37:128,113:13,21:NM_002841.3(PTPRG) c.3637-110T>C,-:0.11,-:NOT_FOUND,- 3 62263355 . G . . NT END=62267237;NT GT ./. 3 62266954 rs9844257 T G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.7302,G/0.2698;Gene=PTPRG/NM_002841.3/1;CC=c.3766-284T>G;VC=Intron;Gene=PTPRG-AS1/NR_038281.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038282.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038283.1/0;VC=NonCoding;DM=PTPRG/Y_phosphatase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:G,T:4:4:0:0:2,2:68,67:6.55,0.00:6.55,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:82.5,13.5:0,0:0,0:44,29:106,120:2,24:NM_002841.3(PTPRG) c.3766-284T>G,-:0.25,-:NOT_FOUND,- 3 62267213 rs60919586 C CTTT 46 idl,nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.8147,CTT/.,CTTT/0.1853,CTTTTTTTTTTT/.;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=13;NP=13;NP=23;PC=0.001;Gene=PTPRG/NM_002841.3/1;CC=c.3766-14_3766-12dupTTT;VC=Intron;Gene=PTPRG-AS1/NR_038281.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038282.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038283.1/0;VC=NonCoding;DM=PTPRG/Y_phosphatase;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,CTTT:23:27:24:0:8,1,14:261,34,766:0.00,2.25,45.65:0.00,-0.11,25.57:0.00,2.36,20.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:9.6,119.0,65.6:0,1,10:0,0,0:120,51,48:14,95,94:7,0,23:-,NM_002841.3(PTPRG) c.3766-25_3766-24insTTT:-,NOT_FOUND:-,NOT_FOUND 3 62267385 . G . . NT END=62268401;NT GT ./. 3 62268229 rs5849472 C CA 8 rn VT=INS;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=74;PC=0.003;Gene=PTPRG/NM_002841.3/1;CC=c.3913-161dupA;VC=Intron;Gene=PTPRG-AS1/NR_038281.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038282.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038283.1/0;VC=NonCoding;DM=PTPRG/Y_phosphatase;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:C,CA,D:12:12:3:1:8,3,1:259,97,33:0.00,8.33,2.40:0.00,8.33,2.40:0.00,0.00,0.00:0.00,0.94,0.00:0.00,0.94,0.00:0.00,0.00,0.00:60,60,60:26.0,0.0,10.0:0,0,0:0,0,0:23,14,114:125,137,37:19,4,0:-,NM_002841.3(PTPRG) c.3913-173_3913-172insA:-,NOT_FOUND:-,NOT_FOUND 3 62268545 . G . . NT END=62278095;NT GT ./. 3 62278076 . C CT 9 rn VT=INS;SST=Single;DP=43;NP=7;Gene=PTPRG/NM_002841.3/1;CC=c.4056-10dupT;VC=Intron;Gene=PTPRG-AS1/NR_038281.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038282.1/0;VC=NonCoding;Gene=PTPRG-AS1/NR_038283.1/0;VC=NonCoding;DM=PTPRG/Y_phosphatase;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:C,CT,D:43:38:4:1:38,4,1:1267,132,33:0.00,9.37,1.76:0.00,7.04,1.87:0.00,2.33,-0.11:0.00,0.58,0.00:0.00,0.92,0.00:0.00,0.74,0.00:60,60,60:13.8,17.2,11.0:0,0,0:0,0,0:45,67,104:100,78,47:24,12,0:-,NM_002841.3(PTPRG) c.4056-20_4056-19insT:-,NOT_FOUND:-,NOT_FOUND 3 62278232 . G . . NT END=62278835;NT GT ./. 3 62278983 . C . . NT END=62306146;NT GT ./. 3 62306200 . G . . NT END=62307604;NT GT ./. 3 62307729 . G . . NT END=62316999;NT GT ./. 3 62317075 . G . . NT END=62318929;NT GT ./. 3 62319065 . C . . NT END=62355757;NT GT ./. 3 62355666 rs397700951 G GT 49 rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=689;PC=1.000;Gene=FEZF2/NM_018008.3/1;CC=c.*91dupA;VC=3UTR;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:43:39:17:0:26,17:840,532:0.00,48.79:0.00,43.58:0.00,5.21:0.00,1.00:0.00,1.00:0.00,0.99:60,60:12.9,18.9:0,0:0,0:40,54:109,95:34,21:-,NM_018008.3(FEZF2) c.*91dupA:-,0.35:-,NOT_FOUND 3 62356018 . C . . NT END=62356891;NT GT ./. 3 62357025 . C . . NT END=62357207;NT GT ./. 3 62357343 . C . . NT END=62357691;NT GT ./. 3 62358544 . G . . NT END=62385080;NT GT ./. 3 62385261 . C . . NT END=62388755;NT GT ./. 3 62388861 . C . . NT END=62423778;NT GT ./. 3 62423887 . C . . NT END=62431439;NT GT ./. 3 62431401 rs10708769 AC A 7 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=AC/0.7899,A/0.2101;NP=11;PC=0.004;Gene=CADPS/NM_003716.3/1;CC=c.3669+38delG;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.3432+38delG;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.3552+38delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:AC,A:21:16:0:3:18,3:552,97:0.00,7.39:0.00,7.90:0.00,-0.50:0.00,0.49:0.00,0.85:0.00,0.72:60,60:49.4,43.3:0,0:0,0:49,23:93,128:32,2:-,NM_003716.3(CADPS) c.3669+38delG:-,NOT_FOUND:-,NOT_FOUND 3 62431402 rs73840192 C A 20 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.9856,A/0.01438;NP=27;PC=0.004;Gene=CADPS/NM_003716.3/1;CC=c.3669+38G>T;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.3432+38G>T;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.3552+38G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:19:14:0:5:7,12:222,362:20.12,0.00:11.58,0.00:8.54,0.00:0.98,0.00:0.99,0.00:0.99,0.00:60,60:69.9,39.3:0,0:0,0:17,53:123,89:10,33:NM_003716.3(CADPS) c.3669+38G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 62431415 rs6791296 T C 96 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.2049,A/.,C/0.7951;Gene=CADPS/NM_003716.3/1;CC=c.3669+25A>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.3432+25A>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.3552+25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:73:C:28:21:0:0:28:825:95.75:58.67:37.08:1.00:1.00:1.00:60:47.4:0:0:37:106:26:NM_003716.3(CADPS) c.3669+25A>G,NM_003716.3(CADPS) c.3669+25A>G:0.82,0.82:0.822159,0.822159 3 62431473 . C . . NT END=62451041;NT GT ./. 3 62451126 . C . . NT END=62452013;NT GT ./. 3 62451935 rs6445273 T C 32 nt VT=SNV;PN=A;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8105,C/0.1895;PC=1.000;Gene=CADPS/NM_003716.3/1;CC=c.3552+79A>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.3315+79A>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.3435+79A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:17:17:0:0:10,7:323,225:32.07,0.00:30.49,0.00:1.58,0.00:1.00,0.00:1.00,0.00:0.86,0.00:60,60:51.3,13.3:0,0:0,0:44,67:106,84:30,47:NM_003716.3(CADPS) c.3552+79A>G,-:0.16,-:NOT_FOUND,- 3 62452089 . C . . NT END=62452972;NT GT ./. 3 62452988 . C . . NT END=62459847;NT GT ./. 3 62453237 rs17031697 G C 16 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.9459,A/.,C/0.05411;PC=0.003;Gene=CADPS/NM_003716.3/1;CC=c.3478-1149C>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.3241-1149C>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.3361-1149C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:C,G:7:0:0:0:5,2:152,65:15.77,0.00:0.00,0.00:15.77,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:30.4,0.0:0,0:0,0:135,103:15,47:10,29:NM_003716.3(CADPS) c.3478-1149C>G,-:0.05,-:NOT_FOUND,- 3 62459828 . ATT A 10 idl,rn VT=DEL;SST=Single;DP=31;NP=1;PC=0.017;Gene=CADPS/NM_003716.3/1;CC=c.3477+18_3477+19delAA;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.3240+18_3240+19delAA;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.3360+18_3360+19delAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:ATT,I,A:27:27:2:7:22,1,4:651,64,222:0.00,1.98,9.54:0.00,2.04,6.28:0.00,-0.06,3.27:0.00,0.00,0.64:0.00,0.00,0.93:0.00,0.00,0.68:60,60,60:19.5,47.0,52.8:0,1,3:0,0,0:89,38,34:36,113,104:16,26,18:-,NM_003716.3(CADPS) c.3477+18_3477+19delAA:-,NOT_FOUND:-,NOT_FOUND 3 62459996 . C . . NT END=62463935;NT GT ./. 3 62464092 . C . . NT END=62467397;NT GT ./. 3 62467545 . C . . NT END=62477013;NT GT ./. 3 62476790 rs2367089 G A 9 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.8211,A/0.1789;Gene=CADPS/NM_003716.3/1;CC=c.3026+224C>T;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.2936+224C>T;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.3056+224C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:A,G:8:8:0:0:3,5:98,152:8.94,0.00:8.94,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:44.0,1.8:0,0:0,0:74,23:72,128:24,15:NM_003716.3(CADPS) c.3026+224C>T,-:0.17,-:NOT_FOUND,- 3 62477156 . C . . NT END=62477964;NT GT ./. 3 62477225 . CACACACAA C 21 nt VT=DEL;SST=Single;DP=45;NP=11;PC=0.315;Gene=CADPS/NM_003716.3/1;CC=c.2885-78_2885-71delTTGTGTGT;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.2795-78_2795-71delTTGTGTGT;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.2915-78_2915-71delTTGTGTGT;VC=Intron;DM=CADPS/DUF1041;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:CACACACAA,C:45:19:0:9:37,8:1204,261:0.00,20.78:0.00,6.71:0.00,14.07:0.00,0.97:0.00,0.94:0.00,1.00:60,60:17.8,25.2:0,0:0,0:85,91:63,60:30,8:-,NM_003716.3(CADPS) c.2885-78_2885-71delTTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 62477233 rs72278711 A C 17 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.5074,AACAC/0.4926,AC/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=17;NP=3;NP=382;NP=89;PC=0.315;Gene=CADPS/NM_003716.3/1;CC=c.2885-78T>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.2795-78T>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.2915-78T>G;VC=Intron;DM=CADPS/DUF1041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,C,D:35:11:0:12:25,7,3:770,214,97:0.00,17.45,6.96:0.00,5.98,-0.23:0.00,11.47,7.20:0.00,0.95,0.00:0.00,0.87,0.00:0.00,0.99,0.00:60,60,60:8.8,59.9,7.3:0,0,0:0,0,0:93,122,60:55,23,91:27,21,33:-,NM_003716.3(CADPS) c.2885-78T>G:-,NOT_FOUND:-,NOT_FOUND 3 62478122 . C . . NT END=62479319;NT GT ./. 3 62478194 rs13325751 C T 79 nt VT=SNV;PN=C;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.8636,T/0.1364;Gene=CADPS/NM_003716.3/1;CC=c.2728-73G>A;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.2638-73G>A;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.2758-73G>A;VC=Intron;DM=CADPS/DUF1041;DM=CADPS/DUF1041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:45:17:0:0:20,25:628,802:0.00,78.71:0.00,19.65:0.00,59.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:13.8,39.8:0,0:0,0:96,96:53,43:26,24:-,NM_003716.3(CADPS) c.2728-73G>A:-,0.12:-,NOT_FOUND 3 62479341 . C . . NT END=62484836;NT GT ./. 3 62484944 . C . . NT END=62498425;NT GT ./. 3 62498378 rs1376917 G A 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1496,A/0.8504;PC=1.000;Gene=CADPS/NM_003716.3/1;CC=c.2599+48C>T;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.2530+3356C>T;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.2650+935C>T;VC=Intron;DM=CADPS/DUF1041 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:23:21:0:0:9,14:293,467:26.91,0.00:20.84,0.00:6.08,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:35.0,2.8:0,0:0,0:30,51:121,94:14,30:NM_003716.3(CADPS) c.2599+48C>T,-:0.83,-:0.897154,- 3 62498444 . C . . NT END=62499312;NT GT ./. 3 62499382 . C . . NT END=62501733;NT GT ./. 3 62501858 . C . . NT END=62502254;NT GT ./. 3 62502319 . C . . NT END=62503823;NT GT ./. 3 62503926 . C . . NT END=62516328;NT GT ./. 3 62516488 . C . . NT END=62518545;NT GT ./. 3 62518392 rs71901469 TTGTG T 18 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=153;PC=0.933;Gene=CADPS/NM_003716.3/1;CC=c.2291+150_2291+153delCACA;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.2240+150_2240+153delCACA;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.2291+150_2291+153delCACA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:TTGTG,T:7:9:0:8:1,6:33,223:0.00,17.93:0.00,16.13:0.00,1.80:0.00,0.99:0.00,0.99:0.00,0.78:60,60:0.0,45.7:0,2:0,0:131,57:20,84:0,31:-,NM_003716.3(CADPS) c.2291+150_2291+153delCACA:-,NOT_FOUND:-,NOT_FOUND 3 62518734 . C . . NT END=62522119;NT GT ./. 3 62518843 rs74802385 C T 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.9744,T/0.02556;Gene=CADPS/NM_003716.3/1;CC=c.2104-110G>A;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.2053-110G>A;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.2104-110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:25:2:0:0:13,12:426,353:0.00,33.50:0.00,3.46:0.00,30.04:0.00,1.00:0.00,0.77:0.00,1.00:60,60:4.8,41.5:0,0:0,0:133,121:18,30:13,18:-,NM_003716.3(CADPS) c.2104-110G>A:-,0.03:-,NOT_FOUND 3 62522257 . C . . NT END=62530522;NT GT ./. 3 62530535 . C . . NT END=62535577;NT GT ./. 3 62535791 . C . . NT END=62543079;NT GT ./. 3 62536033 rs1452081 G A 25 nt VT=SNV;PN=G;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.3758,A/0.6242;Gene=CADPS/NM_003716.3/1;CC=c.1754-243C>T;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1754-243C>T;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1754-243C>T;VC=Intron;DM=CADPS/PH;DM=CADPS/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:221:25.44:0.00:25.44:1.00:0.00:1.00:60:39.7:0:0:131:20:6:NM_003716.3(CADPS) c.1754-243C>T,NM_003716.3(CADPS) c.1754-243C>T:0.64,0.64:NOT_FOUND,NOT_FOUND 3 62542669 rs71123274 AACACACACAC A 11 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=79;PC=0.034;Gene=CADPS/NM_003716.3/1;CC=c.1753+401_1753+410delGTGTGTGTGT;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1753+401_1753+410delGTGTGTGTGT;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1753+401_1753+410delGTGTGTGTGT;VC=Intron;DM=CADPS/PH;DM=CADPS/PH;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A:3:4:0:4:3:132:11.06:7.40:3.65:0.85:0.85:0.95:60:49.0:1:0:45:81:34:NM_003716.3(CADPS) c.1753+401_1753+410delGTGTGTGTGT,NM_003716.3(CADPS) c.1753+401_1753+410delGTGTGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 62542693 rs141498087 C G 11 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=8;Gene=CADPS/NM_003716.3/1;CC=c.1753+387G>C;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1753+387G>C;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1753+387G>C;VC=Intron;DM=CADPS/PH;DM=CADPS/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G:4:4:0:0:1,3:36,106:0.00,11.05:0.00,7.50:0.00,3.55:0.00,0.85:0.00,0.85:0.00,0.99:60,60:35.0,38.0:0,3:0,0:27,93:75,58:0,12:-,NM_003716.3(CADPS) c.1753+387G>C:-,NOT_FOUND:-,NOT_FOUND 3 62543189 . C . . NT END=62556546;NT GT ./. 3 62543436 rs2600854 C T 16 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4058,T/0.5942;Gene=CADPS/NM_003716.3/1;CC=c.1645-248G>A;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1645-248G>A;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1645-248G>A;VC=Intron;DM=CADPS/PH;DM=CADPS/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:137:16.05:0.00:16.05:1.00:0.00:1.00:60:39.6:0:0:135:15:9:NM_003716.3(CADPS) c.1645-248G>A,NM_003716.3(CADPS) c.1645-248G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 3 62556614 . C . . NT END=62570859;NT GT ./. 3 62556622 rs833663 A G 58 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.102,G/0.898;PC=0.197;Gene=CADPS/NM_003716.3/1;CC=c.1578-9T>C;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1578-9T>C;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1578-9T>C;VC=Intron;DM=CADPS/PH;DM=CADPS/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:10:0:0:15:510:58.15:24.45:33.70:1.00:1.00:1.00:60:37.3:0:0:84:50:25:NM_003716.3(CADPS) c.1578-9T>C,NM_003716.3(CADPS) c.1578-9T>C:0.92,0.92:0.9002,0.9002 3 62571000 . C . . NT END=62578311;NT GT ./. 3 62578424 . C . . NT END=62631396;NT GT ./. 3 62581763 rs61533707 TACACACACACACACAC T 12 sb,nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.144;Gene=CADPS/NM_003716.3/1;CC=c.1326-3356_1326-3341delGTGTGTGTGTGTGTGT;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1326-3356_1326-3341delGTGTGTGTGTGTGTGT;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1326-3356_1326-3341delGTGTGTGTGTGTGTGT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:TACACACACACACACAC,T:6:6:0:4:2,4:43,119:0.00,12.19:0.00,10.62:0.00,1.56:0.00,0.93:0.00,0.93:0.00,0.91:60,60:0.0,14.0:0,0:0,0:120,36:31,110:2,6:-,NM_003716.3(CADPS) c.1326-3356_1326-3341delGTGTGTGTGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 62581875 rs397989871 AT A 17 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=AT/0.1352,A/0.8648;NP=282;PC=0.159;Gene=CADPS/NM_003716.3/1;CC=c.1326-3453delA;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1326-3453delA;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1326-3453delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:AT,A:6:4:0:5:1,5:9,152:0.00,16.50:0.00,6.01:0.00,10.49:0.00,0.99:0.00,1.00:0.00,1.00:60,60:45.0,11.8:0,0:0,0:138,58:13,93:0,47:NM_003716.3(CADPS) c.1326-3453delA,NM_003716.3(CADPS) c.1326-3453delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 62611056 rs56211421 TCACACA T 6 idl,nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=542;PC=0.001;Gene=CADPS/NM_003716.3/1;CC=c.1325+20335_1325+20340delTGTGTG;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1325+20335_1325+20340delTGTGTG;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1325+20335_1325+20340delTGTGTG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TCACACA,T:3:5:0:4:1,2:33,129:0.00,6.34:0.00,1.37:0.00,4.97:0.00,0.46:0.00,0.46:0.00,0.80:60,60:58.0,169.0:0,2:0,0:91,54:35,96:0,24:-,NM_003716.3(CADPS) c.1325+20335_1325+20340delTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 62611091 rs5011096 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2917,C/0.7083;Gene=CADPS/NM_003716.3/1;CC=c.1325+20306A>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1325+20306A>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1325+20306A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:131:15.01:9.44:5.57:1.00:1.00:1.00:60:84.5:0:0:92:58:22:NM_003716.3(CADPS) c.1325+20306A>G,NM_003716.3(CADPS) c.1325+20306A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 3 62611103 rs2600849 T C 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.0601,C/0.9399;Gene=CADPS/NM_003716.3/1;CC=c.1325+20294A>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1325+20294A>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1325+20294A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:143:16.21:8.10:8.10:1.00:1.00:1.00:60:76.8:0:0:92:58:12:NM_003716.3(CADPS) c.1325+20294A>G,NM_003716.3(CADPS) c.1325+20294A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 3 62631519 . C . . NT END=62636521;NT GT ./. 3 62631553 rs4588354 G T 182 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.3223,T/0.6777;Gene=CADPS/NM_003716.3/1;CC=c.1204-35C>A;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.1204-35C>A;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.1204-35C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:T:50:18:0:0:50:1583:182.05:46.41:135.64:1.00:1.00:1.00:60:42.2:0:0:99:49:25:NM_003716.3(CADPS) c.1204-35C>A,NM_003716.3(CADPS) c.1204-35C>A:0.69,0.69:0.632477,0.632477 3 62636756 . C . . NT END=62647988;NT GT ./. 3 62636826 rs4688302 C T 88 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.05871,T/0.9413;Gene=CADPS/NM_003716.3/1;CC=c.970-71G>A;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.970-71G>A;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.970-71G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:T:25:2:0:0:25:764:88.23:4.08:84.15:1.00:1.00:1.00:60:47.8:0:0:96:55:31:NM_003716.3(CADPS) c.970-71G>A,NM_003716.3(CADPS) c.970-71G>A:0.95,0.95:NOT_FOUND,NOT_FOUND 3 62647732 rs6795289 G C 14 end,nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8009,C/0.1991;PC=0.026;Gene=CADPS/NM_003716.3/1;CC=c.969+257C>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.969+257C>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.969+257C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:C,G:6:6:0:0:4,2:134,66:13.65,0.00:13.65,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:52.5,0.0:0,0:0,0:4,23:147,127:1,11:NM_003716.3(CADPS) c.969+257C>G,-:0.21,-:NOT_FOUND,- 3 62647904 rs11712073 T C 52 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.7813,C/0.2187;Gene=CADPS/NM_003716.3/1;CC=c.969+85A>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.969+85A>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.969+85A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:32:0:0:17,16:543,503:52.46,0.00:49.13,0.00:3.33,0.00:1.00,0.00:1.00,0.00:0.80,0.00:60,60:78.3,43.4:0,0:0,0:31,57:120,93:23,30:NM_003716.3(CADPS) c.969+85A>G,-:0.21,-:NOT_FOUND,- 3 62647928 rs6770658 A G 192 nt VT=SNV;PN=A;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.4038,G/0.5962;Gene=CADPS/NM_003716.3/1;CC=c.969+61T>C;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.969+61T>C;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.969+61T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:G:53:50:0:0:53:1668:191.85:167.79:24.06:1.00:1.00:1.00:60:54.4:0:0:32:119:23:NM_003716.3(CADPS) c.969+61T>C,NM_003716.3(CADPS) c.969+61T>C:0.63,0.63:0.753833,0.753833 3 62648070 . C . . NT END=62739115;NT GT ./. 3 62648142 rs1354781 T C 109 nt VT=SNV;PN=T;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.8401,C/0.1599;Gene=CADPS/NM_003716.3/1;CC=c.889-73A>G;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.889-73A>G;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.889-73A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:77:28:0:0:35,42:1154,1307:109.07,0.00:22.51,0.00:86.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.3,8.6:0,0:0,0:117,116:34,31:21,21:NM_003716.3(CADPS) c.889-73A>G,-:0.15,-:NOT_FOUND,- 3 62739092 rs478123 A G 242 nt VT=SNV;PN=T;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=A/0.124,G/0.876;Gene=CADPS/NM_003716.3/1;CC=c.888+24T>C;VC=Intron;Gene=CADPS/NM_183393.2/0;CC=c.888+24T>C;VC=Intron;Gene=CADPS/NM_183394.2/0;CC=c.888+24T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:69:65:0:0:69:2093:241.87:195.80:46.07:1.00:1.00:1.00:60:42.0:0:0:47:100:25:NM_003716.3(CADPS) c.888+24T>C,NM_003716.3(CADPS) c.888+24T>C:0.87,0.87:0.910349,0.910349 3 62739449 . C . . NT END=62751545;NT GT ./. 3 62751660 . C . . NT END=62860263;NT GT ./. 3 62860372 . c . . NT END=62860559;NT GT ./. 3 62860705 . A . . NT END=63264209;NT GT ./. 3 62912076 rs2367414 G A 134 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.02456,A/0.9754;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A:36:33:0:0:36:1168:133.92:112.81:21.11:1.00:1.00:1.00:60:40.2:0:0:48:103:24:chr3 g.62912075G>A (intergenic),chr3 g.62912075G>A (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 3 63082116 rs7610130 G A 52 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.3646,A/0.6354;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:13:0:0:14:456:52.28:48.80:3.48:1.00:1.00:1.00:60:38.7:0:0:71:79:44:NR_027104.1(LOC285401) n.-6248G>A,NR_027104.1(LOC285401) n.-6248G>A:0.62,0.62:NOT_FOUND,NOT_FOUND 3 63083207 rs17363508 C T 42 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7057,T/0.2943;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:C,T:19:4:0:0:6,13:200,407:0.00,41.73:0.00,2.71:0.00,39.02:0.00,1.00:0.00,0.99:0.00,1.00:60,60:5.2,37.3:0,0:0,0:128,122:23,29:14,21:-,NR_027104.1(LOC285401) n.-5157C>T:-,0.27:-,NOT_FOUND 3 63119955 rs57437410 C CCA 9 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.6302,CCA/.,CCACA/0.3698,CCACACA/.;DB;DBA=NA;PAF=C/0.6302,CCA/.,CCACA/0.3698;NP=45;NP=72;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,CCA:7:6:3:0:4,3:133,95:0.00,8.85:0.00,4.23:0.00,4.62:0.00,0.69:0.00,0.95:0.00,0.89:60,60:13.2,3.3:0,0:0,0:85,70:65,81:39,12:-,chr3 g.63119955_63119956insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 63152052 rs1447441 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.245,A/0.755 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:140:15.91:15.91:0.00:1.00:1.00:0.00:60:40.8:0:0:88:63:12:chr3 g.63152051G>A (intergenic),chr3 g.63152051G>A (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 3 63152210 rs4643704 C T 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4141,T/0.5859 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:2:0:0:1,3:33,79:0.00,8.32:0.00,3.75:0.00,4.57:0.00,0.85:0.00,0.95:0.00,0.85:60,60:81.0,42.0:0,3:0,0:116,30:34,109:0,2:-,chr3 g.63152209C>T (intergenic):-,0.53:-,NOT_FOUND 3 63152211 rs55988620 T TTG 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=26;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TTG:4:2:3:0:1,3:28,83:0.00,8.75:0.00,3.65:0.00,5.10:0.00,0.85:0.00,0.95:0.00,0.85:60,60:81.0,42.0:0,0:0,0:117,31:33,108:0,2:-,chr3 g.63152211_63152212insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 63171173 rs72356840 TCA T 6 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=39;PC=0.007;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:TCA,T:4:4:0:3:2,2:67,101:0.00,6.41:0.00,6.75:0.00,-0.33:0.00,0.46:0.00,0.87:0.00,0.70:60,60:19.0,0.0:0,1:0,0:83,20:33,130:30,6:-,chr3 g.63171174_63171175delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 63264228 . G . . NT END=63264352;NT GT ./. 3 63264419 . G . . NT END=63428752;NT GT ./. 3 63264535 rs398052047 GC G 33 nt VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=GC/0.4651,G/0.5349;DB;DBA=NA;PAF=GC/0.4651,G/0.5349;NP=485;PC=0.005;Gene=SYNPR/NM_001130003.1/1;CC=c.84+119delC;VC=Intron;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GC,G:26:0:0:12:14,12:437,355:0.00,33.44:0.00,0.00:0.00,33.44:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.1,24.2:0,0:0,0:107,110:43,41:33,21:-,NM_001130003.1(SYNPR) c.84+118delC:-,0.54:-,NOT_FOUND 3 63374232 rs71631151 T TTGTG 13 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=38;PC=0.015;Gene=SYNPR/NM_001130003.1/1;CC=c.85-92237_85-92236insGTGT;VC=Intron;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TTGTG:5:4:4:0:1,4:34,126:0.00,13.42:0.00,8.60:0.00,4.82:0.00,0.96:0.00,1.00:0.00,0.99:60,60:0.0,41.5:0,0:0,0:117,26:34,111:0,13:-,NM_001130003.1(SYNPR) c.85-92276_85-92275insTGTG:-,NOT_FOUND:-,NOT_FOUND 3 63429146 . G . . NT END=63466507;NT GT ./. 3 63465133 rs1993087 T C 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.5701,C/0.4299;NP=4;PC=0.092;Gene=SYNPR/NM_001130003.1/1;CC=c.85-1375T>C;VC=Intron;Gene=SYNPR-AS1/NR_046677.1/0;VC=NonCoding;Gene=SYNPR/NM_144642.4/0;CC=c.25-1375T>C;VC=Intron;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:27:C,T:5:4:0:0:4,1:139,34:14.72,0.00:7.31,0.00:7.41,0.00:0.96,0.00:1.00,0.00:1.00,0.00:70,60:37.0,0.0:0,0:0,0:80,136:26,15:49,0:NM_001130003.1(SYNPR) c.85-1375T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 63466333 rs1451308 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.4044,C/0.5956;Gene=SYNPR/NM_001130003.1/1;CC=c.85-175T>C;VC=Intron;Gene=SYNPR-AS1/NR_046677.1/0;VC=NonCoding;Gene=SYNPR/NM_144642.4/0;CC=c.25-175T>C;VC=Intron;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:6,12:205,381:18.39,0.00:18.39,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:56.7,1.8:0,0:0,0:69,42:80,108:16,21:NM_001130003.1(SYNPR) c.85-175T>C,-:0.58,-:NOT_FOUND,- 3 63466382 rs6772726 G T 30 nt VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.5801,T/0.4199;Gene=SYNPR/NM_001130003.1/1;CC=c.85-126G>T;VC=Intron;Gene=SYNPR-AS1/NR_046677.1/0;VC=NonCoding;Gene=SYNPR/NM_144642.4/0;CC=c.25-126G>T;VC=Intron;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:33:33:0:0:21,12:675,341:0.00,30.39:0.00,29.12:0.00,1.28:0.00,1.00:0.00,1.00:0.00,0.89:60,60:3.6,43.7:0,0:0,0:50,41:101,110:38,32:-,NM_001130003.1(SYNPR) c.85-126G>T:-,0.41:-,NOT_FOUND 3 63466633 . G . . NT END=63542218;NT GT ./. 3 63466851 rs398052051 CA C 13 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CA/0.7041,C/0.2959;DB;DBA=NA;PAF=CA/0.7041,C/0.2959;NP=174;PC=0.001;Gene=SYNPR/NM_001130003.1/1;CC=c.209+228delA;VC=Intron;Gene=SYNPR-AS1/NR_046677.1/0;VC=NonCoding;Gene=SYNPR/NM_144642.4/0;CC=c.149+228delA;VC=Intron;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:127:CA,C:9:0:0:5:4,5:125,132:0.00,12.89:0.00,0.00:0.00,12.89:0.00,0.96:0.00,0.00:0.00,0.96:60,60:5.5,59.8:0,0:0,0:146,115:4,36:1,18:-,NM_001130003.1(SYNPR) c.209+220delA:-,NOT_FOUND:-,NOT_FOUND 3 63467061 rs7641737 A G 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2804,G/0.7196;Gene=SYNPR/NM_001130003.1/1;CC=c.209+429A>G;VC=Intron;Gene=SYNPR-AS1/NR_046677.1/0;VC=NonCoding;Gene=SYNPR/NM_144642.4/0;CC=c.149+429A>G;VC=Intron;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL;DM=SYNPR/MARVEL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:126:14.51:5.67:8.84:1.00:1.00:1.00:60:105.8:0:0:78:67:38:NM_001130003.1(SYNPR) c.209+429A>G,NM_001130003.1(SYNPR) c.209+429A>G:0.69,0.69:NOT_FOUND,NOT_FOUND 3 63542418 . G . . NT END=63594800;NT GT ./. 3 63594993 . G . . NT END=63600899;NT GT ./. 3 63601158 . C . . NT END=63638363;NT GT ./. 3 63638474 . G . . NT END=63640437;NT GT ./. 3 63640473 . G . . NT END=63645400;NT GT ./. 3 63645541 . G . . NT END=63649612;NT GT ./. 3 63649492 rs7634688 A G 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6136,G/0.3864;PC=0.013;Gene=SNTN/NM_001080537.1/1;CC=c.286-121A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:G,T:22:22:0:0:21,1:667,12:76.27,0.47:76.27,0.47:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:34.9,105.0:0,0:0,0:11,149:139,1:10,0:NM_001080537.1(SNTN) c.286-121A>G,NM_001080537.1(SNTN) c.286-121A>G:0.39,0.39:NOT_FOUND,NOT_FOUND 3 63649772 . A . . NT END=63819807;NT GT ./. 3 63819876 . C . . NT END=63820829;NT GT ./. 3 63820900 . C . . NT END=63820999;NT GT ./. 3 63821067 . C . . NT END=63821976;NT GT ./. 3 63821083 rs62253803 A G 35 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.9744,G/0.02556;PC=0.184;Gene=C3orf49/NR_026866.1/0;VC=NonCoding;Gene=THOC7/NM_001285404.1/1;CC=c.255-17T>C;VC=Intron;Gene=THOC7/NM_001285387.2/0;CC=c.255-17T>C;VC=Intron;Gene=THOC7/NM_025075.3/0;CC=c.411-17T>C;VC=Intron;DM=THOC7/THOC7;DM=THOC7/THOC7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:28:0:0:31,14:1013,407:0.00,35.24:0.00,15.99:0.00,19.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.8,41.4:0,0:0,0:95,91:38,41:26,20:-,NM_025075.2(THOC7) c.411-17T>C:-,0.02:-,0.038538 3 63821914 rs2637982 C G 88 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.005391,G/0.9946;Gene=C3orf49/NR_026866.1/0;VC=NonCoding;Gene=THOC7/NM_001285404.1/1;CC=c.254+63G>C;VC=Intron;Gene=THOC7/NM_001285387.2/0;CC=c.254+63G>C;VC=Intron;Gene=THOC7/NM_025075.3/0;CC=c.410+63G>C;VC=Intron;DM=THOC7/THOC7;DM=THOC7/THOC7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:G:24:22:0:0:24:769:88.27:70.83:17.45:1.00:1.00:1.00:60:42.4:0:0:42:106:16:NM_025075.2(THOC7) c.410+63G>C,NM_025075.2(THOC7) c.410+63G>C:1,1:0.994522,0.994522 3 63822035 . C . . NT END=63823651;NT GT ./. 3 63823739 . C . . NT END=63824047;NT GT ./. 3 63824176 . C . . NT END=63825331;NT GT ./. 3 63825450 . C . . NT END=63849179;NT GT ./. 3 63849467 . G . . NT END=63898274;NT GT ./. 3 63898360 rs576518931 G GGCAGCA 111 idl VT=INS;SST=Single;DP=123;DB;DBA=NA;PAF=G/0.9786,GGCA/.,GGCAGCA/0.02137,GGCAGCAGCA/.,GGCAGCAGCAGCA/.;NP=2;PC=1.000;Gene=ATXN7/NM_000333.3/1;CC=c.118_119insAGCAGC;ProtCh=p.Q39_P40insQQ;VC=InFrameIns;Gene=ATXN7/NM_001177387.1/0;CC=c.118_119insAGCAGC;ProtCh=p.Q39_P40insQQ;VC=InFrameIns;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GGCAGCA,D:120:97:42:2:2,77,39,2:67,2332,1334,66:3.53,0.00,111.05,3.43:2.63,0.00,68.02,2.63:0.91,0.00,43.04,0.81:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:33.5,14.9,3.2,0.0:0,1,3,0:0,0,0,0:0,88,55,24:117,52,93,93:0,36,17,8:-,NM_000333.3(ATXN7) c.89AGC[12] (p.Gln30[12]):-,NOT_FOUND:-,NOT_FOUND 3 63898600 . G . . NT END=63898832;NT GT ./. 3 63898902 . G . . NT END=63938054;NT GT ./. 3 63925961 rs60417068 T TCA 10 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=14;PC=0.005;Gene=ATXN7/NM_000333.3/1;CC=c.395-12052_395-12051insCA;VC=Intron;Gene=ATXN7/NM_001177387.1/0;CC=c.395-12052_395-12051insCA;VC=Intron;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:T,TCA,D:7:7:3:1:3,3,1:86,101,33:0.00,9.70,2.73:0.00,8.19,1.33:0.00,1.51,1.40:0.00,0.69,0.00:0.00,0.69,0.00:0.00,0.89,0.00:60,60,60:0.0,24.3,0.0:0,0,0:0,0,0:138,42,17:12,108,83:11,3,0:-,NM_000333.3(ATXN7) c.395-12094_395-12093insCA:-,NOT_FOUND:-,NOT_FOUND 3 63938160 . G . . NT END=63953419;NT GT ./. 3 63949749 rs397989893 AAC A 7 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=129;Gene=ATXN7/NM_000333.3/1;CC=c.499+11625_499+11626delAC;VC=Intron;Gene=ATXN7/NM_001177387.1/0;CC=c.499+11625_499+11626delAC;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AAC,A:4:5:0:3:2,2:65,98:0.00,6.51:0.00,3.35:0.00,3.17:0.00,0.46:0.00,0.46:0.00,0.80:60,60:0.0,35.5:0,1:0,0:132,72:19,78:8,10:-,NM_000333.3(ATXN7) c.499+11591_499+11592delAC:-,NOT_FOUND:-,NOT_FOUND 3 63953652 . G . . NT END=63965590;NT GT ./. 3 63953727 rs147473367 G A 40 nt VT=SNV;PN=G;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.987,A/0.01298;NP=2;PC=1.000;Gene=ATXN7/NM_000333.3/1;CC=c.500-11864G>A;VC=Intron;Gene=ATXN7/NM_001177387.1/0;CC=c.500-11864G>A;VC=Intron;Gene=ATXN7/NM_001128149.2/0;CC=c.64+76G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:1:0:0:13,8:397,265:39.80,0.00:1.93,0.00:37.87,0.00:1.00,0.00:0.75,0.00:1.00,0.00:60,60:45.5,0.0:0,0:0,0:82,103:68,48:33,18:NM_000333.3(ATXN7) c.500-11864G>A,-:0.01,-:NOT_FOUND,- 3 63965844 . G . . NT END=63967861;NT GT ./. 3 63967898 rs372476262 G A 155 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=0.955;Gene=ATXN7/NM_000333.3/1;CC=c.789G>A;ProtCh=p.P263=;VC=Silent;Gene=ATXN7/NM_001177387.1/0;CC=c.789G>A;ProtCh=p.P263=;VC=Silent;Gene=ATXN7/NM_001128149.2/0;CC=c.354G>A;ProtCh=p.P118=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:91:57:0:0:49,42:1592,1293:155.41,0.00:84.30,0.00:71.11,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.0,5.5:0,0:0,0:78,77:69,74:35,45:NM_000333.3(ATXN7) c.789G>A (p.(=)),-:NOT_FOUND,-:0.000081,- 3 63968122 . G . . NT END=63968614;NT GT ./. 3 63968299 rs71099784 A AGT 7 rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.4357,AGT/.,AGTGT/0.5643;DB;DBA=NA;PAF=A/0.4357,AGTGT/0.5643,AGTGTGT/.;NP=2;Gene=ATXN7/NM_000333.3/1;CC=c.1012+214_1012+215insGT;VC=Intron;Gene=ATXN7/NM_001177387.1/0;CC=c.1012+214_1012+215insGT;VC=Intron;Gene=ATXN7/NM_001128149.2/0;CC=c.577+214_577+215insGT;VC=Intron;DM=ATXN7/SCA7;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:A,T,AGT,D:12:5:3:2:7,1,3,1:201,11,85,63:0.00,0.31,7.23,2.02:0.00,-0.09,-0.29,-0.34:0.00,0.40,7.51,2.36:0.00,0.00,0.58,0.00:0.00,0.00,0.72,0.00:0.00,0.00,0.91,0.00:60,60,60,60:43.1,113.0,0.0,13.0:0,0,0,1:0,0,0,0:82,65,34,57:49,86,114,92:59,0,2,19:-,NM_000333.3(ATXN7) c.1012+178_1012+179insGT:-,NOT_FOUND:-,NOT_FOUND 3 63968698 . G . . NT END=63973734;NT GT ./. 3 63974001 . G . . NT END=63975851;NT GT ./. 3 63974258 rs3774725 T G 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.7656,G/0.2344;PC=0.097;Gene=ATXN7/NM_000333.3/1;CC=c.1361+258T>G;VC=Intron;Gene=ATXN7/NM_001177387.1/0;CC=c.1361+258T>G;VC=Intron;Gene=ATXN7/NM_001128149.2/0;CC=c.926+258T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:G,T:6:0:0:0:3,3:107,95:10.33,0.00:0.00,0.00:10.33,0.00:0.73,0.00:0.00,0.00:0.73,0.00:60,60:35.7,0.0:0,0:0,0:91,44:60,107:12,16:NM_000333.3(ATXN7) c.1361+258T>G,-:0.22,-:NOT_FOUND,- 3 63976051 . G . . NT END=63976413;NT GT ./. 3 63976536 . G . . NT END=63981180;NT GT ./. 3 63982082 rs3774729 G A 184 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=119;DB;DBA=in-clinvar;PAF=G/0.5623,A/0.4377,T/.;Gene=ATXN7/NM_000333.3/1;CC=c.2584G>A;ProtCh=p.V862M;VC=Missense;Gene=ATXN7/NM_001177387.1/0;CC=c.2584G>A;ProtCh=p.V862M;VC=Missense;Gene=ATXN7/NM_001128149.2/0;CC=c.2149G>A;ProtCh=p.V717M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:119:66:0:0:58,61:1925,1852:184.48,0.00:85.30,0.00:99.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,5.9:0,0:0,0:73,74:70,73:36,35:NM_000333.3(ATXN7) c.2584G>A (p.Val862Met),-:0.44,-:0.390691,- 3 63982160 . G . . NT END=63983296;NT GT ./. 3 63983876 . AG A 18 rn VT=DEL;SST=Single;DP=84;NP=6;Gene=ATXN7/NM_000333.3/1;CC=c.2662-1240delG;VC=Intron;Gene=ATXN7/NM_001177387.1/0;CC=c.2728+523delG;VC=Intron;Gene=ATXN7/NM_001128149.2/0;CC=c.2227-1240delG;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:AG,C,G,I,A:84:74:3:8:70,1,2,3,8:2103,7,41,82,258:0.00,-0.31,1.24,4.25,18.42:0.00,-0.32,-0.65,4.38,17.61:0.00,0.01,1.89,-0.13,0.81:0.00,0.00,0.00,0.00,0.93:0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.66:60,60,60,60,70:17.2,88.0,95.0,49.0,7.9:1,0,0,0,0:0,0,0,0,0:83,53,116,46,81:66,72,16,71,68:38,0,3,1,28:-,NM_000333.3(ATXN7) c.2662-1249delG:-,NOT_FOUND:-,NOT_FOUND 3 63984409 . a . . NT END=63985125;NT GT ./. 3 63985236 . G . . NT END=63996342;NT GT ./. 3 63996441 . C . . NT END=63996552;NT GT ./. 3 63996632 . C . . NT END=63999113;NT GT ./. 3 63998988 rs41276489 A G 17 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=NA;Gene=PSMD6/NM_001271781.1/0;CC=c.878+127T>C;VC=Intron;Gene=PSMD6/NM_001271779.1/1;CC=c.1154+127T>C;VC=Intron;Gene=PSMD6/NM_014814.2/0;CC=c.995+127T>C;VC=Intron;Gene=PSMD6/NM_001271780.1/0;CC=c.881+127T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G:15:15:0:0:9,6:299,190:0.00,17.48:0.00,17.48:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:6.6,36.8:0,0:0,0:83,37:59,113:15,16:-,NM_014814.1(PSMD6) c.995+127T>C:-,0.01:-,NOT_FOUND 3 63999284 . C . . NT END=64004273;NT GT ./. 3 63999322 rs3816157 G A 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.7462,A/0.2538;Gene=PSMD6/NM_001271781.1/0;CC=c.710-39C>T;VC=Intron;Gene=PSMD6/NM_001271779.1/1;CC=c.986-39C>T;VC=Intron;Gene=PSMD6/NM_014814.2/0;CC=c.827-39C>T;VC=Intron;Gene=PSMD6/NM_001271780.1/0;CC=c.713-39C>T;VC=Intron;DM=PSMD6/PCI GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:12:0:0:18,13:601,405:59.59,0.00:17.67,0.00:41.92,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,5.1:0,0:0,0:82,109:60,38:35,19:NM_014814.1(PSMD6) c.827-39C>T,-:0.25,-:0.217385,- 3 64004384 . C . . NT END=64004492;NT GT ./. 3 64004714 . C . . NT END=64004970;NT GT ./. 3 64004759 rs140387621 C G 16 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.9932,G/0.006789;NP=84;Gene=PSMD6/NM_001271781.1/0;CC=c.381-46G>C;VC=Intron;Gene=PSMD6/NM_001271779.1/1;CC=c.657-46G>C;VC=Intron;Gene=PSMD6/NM_014814.2/0;CC=c.498-46G>C;VC=Intron;Gene=PSMD6/NM_001271780.1/0;CC=c.384-46G>C;VC=Intron;DM=PSMD6/RPN7;DM=PSMD6/RPN7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:177:C,G:13:5:0:0:7,6:224,172:0.00,16.14:0.00,7.95:0.00,8.19:0.00,0.97:0.00,0.95:0.00,0.99:60,60:13.4,46.2:0,0:0,0:122,117:29,33:2,14:-,NM_014814.1(PSMD6) c.498-46G>C:-,0.01:-,0.007536 3 64004819 rs2578011 C T 13 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7808,T/0.2192;Gene=PSMD6/NM_001271781.1/0;CC=c.381-106G>A;VC=Intron;Gene=PSMD6/NM_001271779.1/1;CC=c.657-106G>A;VC=Intron;Gene=PSMD6/NM_014814.2/0;CC=c.498-106G>A;VC=Intron;Gene=PSMD6/NM_001271780.1/0;CC=c.384-106G>A;VC=Intron;DM=PSMD6/RPN7;DM=PSMD6/RPN7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:8:2:0:0:4,4:127,138:0.00,13.30:0.00,7.25:0.00,6.05:0.00,0.87:0.00,0.79:0.00,0.73:60,60:0.0,55.2:0,0:0,0:35,56:115,95:8,9:-,NM_014814.1(PSMD6) c.498-106G>A:-,0.22:-,NOT_FOUND 3 64005118 . C . . NT END=64007992;NT GT ./. 3 64008200 . C . . NT END=64008318;NT GT ./. 3 64008478 . C . . NT END=64008726;NT GT ./. 3 64009283 . G . . NT END=64009480;NT GT ./. 3 64009512 . c . . NT END=64084728;NT GT ./. 3 64085602 . C . . NT END=64127481;NT GT ./. 3 64085744 rs11705855 G A 43 nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.9091,A/0.09085;Gene=PRICKLE2-AS1/NR_045697.1/0;VC=NonCoding;Gene=PRICKLE2/NM_198859.3/1;CC=c.1661-143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:A,G:19:0:0:0:13,6:424,197:43.45,0.00:0.00,0.00:43.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.6,29.8:0,0:0,0:97,72:54,74:34,21:NR_045697.1(PRICKLE2-AS1) n.3442G>A,-:0.1,-:NOT_FOUND,- 3 64127629 . C . . NT END=64132505;NT GT ./. 3 64132271 rs2080665 T G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.8309,G/0.1691;PC=0.038;Gene=PRICKLE2/NM_198859.3/1;CC=c.1660+235A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:G,T:10:10:0:0:5,5:167,165:16.07,0.00:16.07,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:38.0,2.0:0,0:0,0:59,60:92,89:26,4:NM_198859.3(PRICKLE2) c.1660+235A>C,-:0.16,-:NOT_FOUND,- 3 64132418 . C CA 7 idl,rn VT=INS;SST=Single;DP=40;NP=2;PC=0.004;Gene=PRICKLE2/NM_198859.3/1;CC=c.1660+87_1660+88insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:A,C,CA,D:38:36:4:3:2,31,3,2:18,945,130,89:-0.09,0.00,6.71,3.27:-0.59,0.00,6.86,3.37:0.50,0.00,-0.15,-0.10:0.00,0.00,0.37,0.00:0.00,0.00,0.84,0.00:0.00,0.00,0.45,0.00:60,60,60,60:18.5,20.9,0.0,21.5:0,0,1,1:0,0,0,0:24,60,34,68:115,91,116,83:6,33,20,31:-,NM_198859.3(PRICKLE2) c.1660+87_1660+88insT:-,NOT_FOUND:-,NOT_FOUND 3 64133350 rs27673 A G 360 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=99;DB;DBA=in-clinvar;PAF=A/0.01617,G/0.9838;PC=0.002;Gene=PRICKLE2/NM_198859.3/1;CC=c.816T>C;ProtCh=p.D272=;VC=Silent;DM=PRICKLE2/LIM;DM=PRICKLE2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:99:47:0:0:99:3134:360.32:112.61:247.72:1.00:1.00:1.00:60:41.1:0:0:71:74:33:NM_198859.3(PRICKLE2) c.816T>C (p.(=)),NM_198859.3(PRICKLE2) c.816T>C (p.(=)):0.99,0.99:0.984466,0.984466 3 64133379 . C . . NT END=64138857;NT GT ./. 3 64138716 rs35843 A G 53 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.0613,G/0.9387;Gene=PRICKLE2/NM_198859.3/1;CC=c.787+142T>C;VC=Intron;DM=PRICKLE2/LIM;DM=PRICKLE2/LIM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:G:16:16:0:0:16:456:53.06:53.06:0.00:1.00:1.00:0.00:60:30.1:0:0:52:98:38:NM_198859.3(PRICKLE2) c.787+142T>C,NM_198859.3(PRICKLE2) c.787+142T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 64139045 . C . . NT END=64142837;NT GT ./. 3 64143042 . C . . NT END=64145615;NT GT ./. 3 64143278 rs2111684 C T 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6577,T/0.3423;Gene=PRICKLE2/NM_198859.3/1;CC=c.397-237G>A;VC=Intron;DM=PRICKLE2/LIM;DM=PRICKLE2/PET;DM=PRICKLE2/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:C,T:9:0:0:0:4,5:130,164:0.00,16.10:0.00,0.00:0.00,16.10:0.00,0.96:0.00,0.00:0.00,0.96:60,60:0.0,48.4:0,0:0,0:136,115:14,34:8,0:-,NM_198859.3(PRICKLE2) c.397-237G>A:-,0.36:-,NOT_FOUND 3 64145754 . C . . NT END=64148691;NT GT ./. 3 64145913 rs26942 T A 10 nt VT=SNV;PN=G;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7466,A/0.2534;PC=0.012;Gene=PRICKLE2/NM_198859.3/1;CC=c.259-160A>T;VC=Intron;DM=PRICKLE2/PET;DM=PRICKLE2/PET;DM=PRICKLE2/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:108:A,T:10:0:0:0:4,6:108,189:9.77,0.00:0.00,0.00:9.77,0.00:0.84,0.00:0.00,0.00:0.84,0.00:60,60:33.5,0.0:0,0:0,0:90,131:61,19:25,18:NM_198859.3(PRICKLE2) c.259-160A>T,-:0.24,-:NOT_FOUND,- 3 64148806 . C . . NT END=64184459;NT GT ./. 3 64184343 rs696016 C T 31 nt VT=SNV;PN=C;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8209,T/0.1791;Gene=PRICKLE2/NM_198859.3/1;CC=c.144+117G>A;VC=Intron;Gene=PRICKLE2-AS3/NR_046702.1/0;VC=NonCoding;DM=PRICKLE2/PET;DM=PRICKLE2/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:17:0:0:8,10:246,321:0.00,31.49:0.00,31.84:0.00,-0.35:0.00,1.00:0.00,1.00:0.00,0.70:60,60:21.2,76.9:0,0:0,0:44,53:106,97:29,31:-,NM_198859.3(PRICKLE2) c.144+117G>A:-,0.17:-,NOT_FOUND 3 64184397 rs696017 G T 40 nt VT=SNV;PN=G;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.8227,T/0.1773;PC=0.011;Gene=PRICKLE2/NM_198859.3/1;CC=c.144+63C>A;VC=Intron;Gene=PRICKLE2-AS3/NR_046702.1/0;VC=NonCoding;DM=PRICKLE2/PET;DM=PRICKLE2/PET GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:36:33:0:0:21,15:674,435:0.00,40.00:0.00,33.03:0.00,6.97:0.00,1.00:0.00,1.00:0.00,0.98:60,60:11.2,54.4:0,0:0,0:33,43:118,107:15,24:-,NR_046702.1(PRICKLE2-AS3) n.252G>T:-,0.17:-,NOT_FOUND 3 64184644 . C . . NT END=64210585;NT GT ./. 3 64184676 rs695937 G A 97 nt VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.5783,A/0.4217;Gene=PRICKLE2/NM_198859.3/1;CC=c.-40-33C>T;VC=Intron;Gene=PRICKLE2-AS3/NR_046702.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:61:20:0:0:30,31:1006,987:96.57,0.00:26.10,0.00:70.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,3.7:0,0:0,0:97,120:50,24:28,24:NR_046702.1(PRICKLE2-AS3) n.531G>A,-:0.4,-:NOT_FOUND,- 3 64211102 rs697287 G A 185 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=128;DB;DBA=NA;PAF=G/0.7506,A/0.2494;PC=0.072;Gene=PRICKLE2/NM_198859.3/1;CC=c.-557C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,T:128:75:0:0:59,2,66,1:1944,10,1937,10:185.03,-0.39,0.00,-0.15:58.28,-0.22,0.00,-0.11:126.75,-0.16,0.00,-0.04:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:38.7,57.0,21.2,66.0:0,0,0,0:0,0,0,0:78,52,65,59:70,95,78,72:42,13,32,0:NM_198859.3(PRICKLE2) c.-557C>T,-:0.23,-:NOT_FOUND,- 3 64211132 . G . . NT END=64507846;NT GT ./. 3 64401235 rs529860315 GAC G 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=423;PC=0.003;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:GAC,G:4:3:0:3:1,3:35,99:0.00,10.35:0.00,4.88:0.00,5.48:0.00,0.85:0.00,0.99:0.00,0.95:60,60:0.0,0.0:0,0:0,0:5,74:146,77:0,17:-,chr3 g.64401236_64401237delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 64448870 rs56370819 AAC A 20 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=243;PC=0.007;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:6:0:7:6:207:19.95:12.43:7.52:1.00:1.00:1.00:60:10.5:1:0:22:94:7:chr3 g.64448871_64448872delAC (intergenic),chr3 g.64448871_64448872delAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 64507937 . C . . NT END=64518841;NT GT ./. 3 64518947 . C . . NT END=64524878;NT GT ./. 3 64518994 rs1017537 T C 121 nt VT=SNV;PN=C;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.03874,C/0.9613;Gene=ADAMTS9/NM_182920.1/1;CC=c.5614-48A>G;VC=Intron;DM=ADAMTS9/GON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:C:35:11:0:0:35:1040:120.56:24.00:96.56:1.00:1.00:1.00:60:39.5:0:0:112:30:20:NM_182920.1(ADAMTS9) c.5614-48A>G,NM_182920.1(ADAMTS9) c.5614-48A>G:0.96,0.96:0.940643,0.940643 3 64524971 . C . . NT END=64526770;NT GT ./. 3 64525171 rs11130968 G A 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3442,A/0.6558;PC=0.003;Gene=ADAMTS9/NM_182920.1/1;CC=c.5522-201C>T;VC=Intron;DM=ADAMTS9/GON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:135:15.87:0.00:15.87:1.00:0.00:1.00:60:60.8:0:0:113:38:27:NM_182920.1(ADAMTS9) c.5522-201C>T,NM_182920.1(ADAMTS9) c.5522-201C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 3 64525177 rs11130969 C T 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.4679,T/0.5321;Gene=ADAMTS9/NM_182920.1/1;CC=c.5522-207G>A;VC=Intron;DM=ADAMTS9/GON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:159:18.28:0.00:18.28:1.00:0.00:1.00:60:60.8:0:0:119:32:27:NM_182920.1(ADAMTS9) c.5522-207G>A,NM_182920.1(ADAMTS9) c.5522-207G>A:0.54,0.54:NOT_FOUND,NOT_FOUND 3 64526610 rs11130970 G A 53 nt VT=SNV;PN=C;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4671,A/0.5329,C/.;Gene=ADAMTS9/NM_182920.1/1;CC=c.5521+161C>T;VC=Intron;DM=ADAMTS9/GON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:14:0:0:14:460:52.68:52.68:0.00:1.00:1.00:0.00:60:59.4:0:0:26:125:23:NM_182920.1(ADAMTS9) c.5521+161C>T,NM_182920.1(ADAMTS9) c.5521+161C>T:0.55,0.55:NOT_FOUND,NOT_FOUND 3 64526651 rs56833862 CCAATGTG C 85 nt VT=DEL;SST=Single;DP=27;DB;DBA=NA;PAF=CCAATGTG/0.4673,C/0.5327;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CCAATGTG/0.4673,C/0.5327;NP=2116;PC=0.011;Gene=ADAMTS9/NM_182920.1/1;CC=c.5521+113_5521+119delCACATTG;VC=Intron;DM=ADAMTS9/GON;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:CCAATGTG,C:27:27:0:24:3,24:106,777:0.00,85.05:0.00,85.05:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:34.7,50.5:0,0:0,0:128,35:19,115:2,10:-,NM_182920.1(ADAMTS9) c.5521+113_5521+119delCACATTG:-,0.54:-,NOT_FOUND 3 64526717 rs3796384 G C 197 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.4677,C/0.5323;Gene=ADAMTS9/NM_182920.1/1;CC=c.5521+54C>G;VC=Intron;DM=ADAMTS9/GON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:C:52:49:0:0:52:1718:196.52:158.44:38.08:1.00:1.00:1.00:60:50.8:0:0:50:99:36:NM_182920.1(ADAMTS9) c.5521+54C>G,NM_182920.1(ADAMTS9) c.5521+54C>G:0.55,0.55:NOT_FOUND,NOT_FOUND 3 64526905 . C . . NT END=64526995;NT GT ./. 3 64526942 rs3796383 A C 289 nt VT=SNV;PN=A;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=A/0.4669,C/0.5331,T/.;Gene=ADAMTS9/NM_182920.1/1;CC=c.5388-38T>G;VC=Intron;DM=ADAMTS9/GON GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:81:43:0:0:81:2505:288.96:130.59:158.38:1.00:1.00:1.00:60:41.1:0:0:107:42:27:NM_182920.1(ADAMTS9) c.5388-38T>G,NM_182920.1(ADAMTS9) c.5388-38T>G:0.55,0.55:0.666308,0.666308 3 64527091 . C . . NT END=64527201;NT GT ./. 3 64527297 . C . . NT END=64527513;NT GT ./. 3 64527321 rs1373163 T C 164 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.4669,C/0.5331;Gene=ADAMTS9/NM_182920.1/1;CC=c.5198-25A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:C:44:30:0:0:44:1432:164.06:83.33:80.73:1.00:1.00:1.00:60:79.8:0:0:93:54:32:NM_182920.1(ADAMTS9) c.5198-25A>G,NM_182920.1(ADAMTS9) c.5198-25A>G:0.55,0.55:0.66964,0.66964 3 64527336 rs1036919 C T 169 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=C/0.4688,T/0.5312;Gene=ADAMTS9/NM_182920.1/1;CC=c.5198-40G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:117:G,T:45:28:0:0:1,44:7,1486:0.09,169.13:0.09,87.77:0.00,81.36:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.0,91.5:0,0:0,0:140,84:10,66:0,35:NM_182920.1(ADAMTS9) c.5198-40G>A,NM_182920.1(ADAMTS9) c.5198-40G>A:0.54,0.54:0.668461,0.668461 3 64527378 rs1036918 G A 134 nt VT=SNV;PN=C;NN=C;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.1961,A/0.8039;PC=0.003;Gene=ADAMTS9/NM_182920.1/1;CC=c.5198-82C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:22:0:0:38:1164:134.40:75.87:58.54:1.00:1.00:1.00:60:100.8:0:0:88:62:37:NM_182920.1(ADAMTS9) c.5198-82C>T,NM_182920.1(ADAMTS9) c.5198-82C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 3 64527465 rs1036917 C T 188 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=ADAMTS9/NM_182920.1/1;CC=c.5197+49G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:145:T:52:35:0:0:52:1635:188.13:108.83:79.30:1.00:1.00:1.00:60:60.3:0:0:52:98:33:NM_182920.1(ADAMTS9) c.5197+49G>A,NM_182920.1(ADAMTS9) c.5197+49G>A:NOT_FOUND,NOT_FOUND:0.817546,0.817546 3 64527647 . C . . NT END=64532433;NT GT ./. 3 64527835 rs11706020 G T 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4679,T/0.5321;Gene=ADAMTS9/NM_182920.1/1;CC=c.5065-189C>A;VC=Intron;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C,T:20:0:0:0:1,19:11,613:0.43,69.94:0.00,0.00:0.43,69.94:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.0,53.1:0,0:0,0:143,107:8,44:0,31:NM_182920.1(ADAMTS9) c.5065-189C>A,NM_182920.1(ADAMTS9) c.5065-189C>A:0.54,0.54:NOT_FOUND,NOT_FOUND 3 64527917 rs60208170 A G,ACG 14 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.474,G/0.2917;DB;DBA=NA;PAF=A/0.474,ACA/.,ACACG/.,ACG/0.2342;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:39:A,G,ACG:7:0:3:0:1,4,2:29,137,98:0.00,14.10,6.13:0.00,0.00,0.00:0.00,14.10,6.13:0.00,0.87,0.00:0.00,0.00,0.00:0.00,0.87,0.00:60,60,60:34.0,62.2,45.0:0,0,1:0,0,0:150,101,92:1,49,58:0,19,30:NM_182920.1(ADAMTS9) c.5065-271T>C,NM_182920.1(ADAMTS9) c.5065-272_5065-271insCG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 64532254 rs9311895 A G 42 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1627,G/0.8373;Gene=ADAMTS9/NM_182920.1/1;CC=c.5064+180T>C;VC=Intron;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:G:14:14:0:0:14:358:42.07:42.07:0.00:1.00:1.00:0.00:60:61.5:0:0:51:100:27:NM_182920.1(ADAMTS9) c.5064+180T>C,NM_182920.1(ADAMTS9) c.5064+180T>C:0.83,0.83:NOT_FOUND,NOT_FOUND 3 64532509 . C G 166 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=120;PC=1.000;Gene=ADAMTS9/NM_182920.1/1;CC=c.4989G>C;ProtCh=p.Q1663H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:120:88:0:1:66,54:2230,1763:0.00,166.19:0.00,94.00:0.00,72.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.8,40.3:0,0:0,0:91,63:44,78:37,35:-,NM_182920.1(ADAMTS9) c.4989G>C (p.Gln1663His):-,NOT_FOUND:-,NOT_FOUND 3 64532629 . C . . NT END=64536567;NT GT ./. 3 64536227 rs894744 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3009,A/0.6991;Gene=ADAMTS9/NM_182920.1/1;CC=c.4869+341C>T;VC=Intron;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:129:14.81:14.81:0.00:1.00:1.00:0.00:60:46.0:0:0:17:133:12:NM_182920.1(ADAMTS9) c.4869+341C>T,NM_182920.1(ADAMTS9) c.4869+341C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 3 64536739 . C . . NT END=64547253;NT GT ./. 3 64547428 . C . . NT END=64554043;NT GT ./. 3 64553963 rs9836795 T C 73 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.9008,C/0.09924;PC=0.016;Gene=ADAMTS9/NM_182920.1/1;CC=c.4524+81A>G;VC=Intron;Gene=ADAMTS9-AS1/NR_110150.1/0;VC=NonCoding;Gene=ADAMTS9-AS1/NR_110151.1/0;VC=NonCoding;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:38:0:0:23,17:742,543:73.33,0.00:72.81,0.00:0.52,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:36.7,0.0:0,0:0,0:66,35:84,116:40,17:NM_182920.1(ADAMTS9) c.4524+81A>G,-:0.14,-:NOT_FOUND,- 3 64554212 . C . . NT END=64579933;NT GT ./. 3 64554254 rs7635677 T C 150 nt VT=SNV;PN=T;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=T/0.2802,C/0.7198;PC=0.976;Gene=ADAMTS9/NM_182920.1/1;CC=c.4357-43A>G;VC=Intron;Gene=ADAMTS9-AS1/NR_110150.1/0;VC=NonCoding;Gene=ADAMTS9-AS1/NR_110151.1/0;VC=NonCoding;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:79:27:0:0:46,33:1512,1029:149.82,0.00:33.17,0.00:116.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,6.2:0,0:0,0:98,89:51,61:29,32:NM_182920.1(ADAMTS9) c.4357-43A>G,-:0.71,-:0.603414,- 3 64580111 . C . . NT END=64582505;NT GT ./. 3 64582668 . C . . NT END=64587619;NT GT ./. 3 64587890 . C . . NT END=64589597;NT GT ./. 3 64589766 . C . . NT END=64589902;NT GT ./. 3 64589851 rs9985304 A G 88 nt VT=SNV;PN=G;NN=G;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.5054,G/0.4946;PC=0.487;Gene=ADAMTS9/NM_182920.1/1;CC=c.3579+52T>C;VC=Intron;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:58:31:0:0:28,29,1:872,917,27:0.00,88.41,1.22:0.00,33.14,1.33:0.00,55.27,-0.11:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:7.2,36.5,128.0:0,0,0:0,0,0:74,76,134:77,75,17:33,37,0:-,NM_182920.1(ADAMTS9) c.3579+52T>C:-,0.46:-,0.408615 3 64590008 . C . . NT END=64592635;NT GT ./. 3 64592756 . C . . NT END=64599020;NT GT ./. 3 64599186 . C . . NT END=64600996;NT GT ./. 3 64599279 rs6806842 T C 85 nt VT=SNV;PN=C;NN=T;SST=Single;DP=61;DB;DBA=NA;PAF=T/0.8293,C/0.1707;PC=0.015;Gene=ADAMTS9/NM_182920.1/1;CC=c.3190-94A>G;VC=Intron;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:61:7:0:0:29,32:891,1017:84.54,0.00:3.27,0.00:81.27,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:39.9,7.0:0,0:0,0:113,108:36,42:27,28:NM_182920.1(ADAMTS9) c.3190-94A>G,-:0.19,-:NOT_FOUND,- 3 64601162 . C . . NT END=64601635;NT GT ./. 3 64601550 rs4589926 T C 84 nt VT=SNV;PN=C;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.484,C/0.516;Gene=ADAMTS9/NM_182920.1/1;CC=c.3024+86A>G;VC=Intron;DM=ADAMTS9/TSP_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:48:43:0:0:28,20:849,654:83.99,0.00:71.94,0.00:12.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.1,9.4:0,0:0,0:67,70:84,80:47,48:NM_182920.1(ADAMTS9) c.3024+86A>G,-:0.5,-:NOT_FOUND,- 3 64601847 . C . . NT END=64606789;NT GT ./. 3 64602006 rs6445415 A G 23 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.8433,G/0.1567;PC=0.072;Gene=ADAMTS9/NM_182920.1/1;CC=c.2814-160T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:18:0:0:0:10,8:281,246:0.00,23.04:0.00,0.00:0.00,23.04:0.00,0.99:0.00,0.00:0.00,0.99:60,60:5.7,32.9:0,0:0,0:93,124:57,26:24,19:-,NM_182920.1(ADAMTS9) c.2814-160T>C:-,0.18:-,NOT_FOUND 3 64606917 . C . . NT END=64607873;NT GT ./. 3 64608004 . C . . NT END=64608095;NT GT ./. 3 64608263 . C . . NT END=64617130;NT GT ./. 3 64617042 rs6768487 G C 36 nt VT=SNV;PN=T;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.3958,C/0.6042;Gene=ADAMTS9/NM_182920.1/1;CC=c.2389+89C>G;VC=Intron;DM=ADAMTS9/ADAM_spacer1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:21:0:0:11,10:373,326:36.24,0.00:32.59,0.00:3.65,0.00:1.00,0.00:1.00,0.00:0.81,0.00:60,60:66.5,3.6:0,0:0,0:39,53:112,97:31,18:NM_182920.1(ADAMTS9) c.2389+89C>G,-:0.56,-:NOT_FOUND,- 3 64617070 rs6445420 C T 38 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.2424,T/0.7576;Gene=ADAMTS9/NM_182920.1/1;CC=c.2389+61G>A;VC=Intron;DM=ADAMTS9/ADAM_spacer1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:23:0:0:11,13:388,387:0.00,37.71:0.00,30.95:0.00,6.75:0.00,1.00:0.00,1.00:0.00,0.98:60,60:3.3,60.2:0,0:0,0:64,47:87,104:31,24:-,NM_182920.1(ADAMTS9) c.2389+61G>A:-,0.73:-,NOT_FOUND 3 64617227 . C . . NT END=64617483;NT GT ./. 3 64617371 rs13079218 T C 47 nt VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.879,C/0.121;Gene=ADAMTS9/NM_182920.1/1;CC=c.2293+113A>G;VC=Intron;DM=ADAMTS9/ADAM_spacer1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:13:0:0:15,10:476,307:47.42,0.00:26.55,0.00:20.86,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.7,1.1:0,0:0,0:63,83:88,67:33,25:NM_182920.1(ADAMTS9) c.2293+113A>G,-:0.16,-:NOT_FOUND,- 3 64617423 rs9882622 G C 48 nt VT=SNV;PN=G;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.8279,C/0.1721;Gene=ADAMTS9/NM_182920.1/1;CC=c.2293+61C>G;VC=Intron;DM=ADAMTS9/ADAM_spacer1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:35:27:0:0:16,18,1:503,547,10:47.70,0.00,0.01:36.27,0.00,-0.18:11.43,0.00,0.19:1.00,0.00,0.00:1.00,0.00,0.00:0.99,0.00,0.00:60,60,60:58.6,1.8,51.0:0,0,0:0,0,0:65,43,119:86,107,32:49,32,0:NM_182920.1(ADAMTS9) c.2293+61C>G,-:0.2,-:NOT_FOUND,- 3 64617602 . C . . NT END=64619147;NT GT ./. 3 64617690 rs35122501 A G 52 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.8852,G/0.1148;PC=0.006;Gene=ADAMTS9/NM_182920.1/1;CC=c.2176-89T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:25:3:0:0:10,15:275,517:0.00,51.59:0.00,1.03:0.00,50.56:0.00,1.00:0.00,0.94:0.00,1.00:60,60:1.4,75.3:0,0:0,0:116,117:34,33:24,16:-,NM_182920.1(ADAMTS9) c.2176-89T>C:-,0.15:-,NOT_FOUND 3 64617699 rs7640062 A G 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.3914,G/0.6086;PC=0.007;Gene=ADAMTS9/NM_182920.1/1;CC=c.2176-98T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:23:0:0:0:8,15:260,490:0.00,49.68:0.00,0.00:0.00,49.68:0.00,1.00:0.00,0.00:0.00,1.00:60,60:1.8,75.3:0,0:0,0:115,126:35,24:23,16:-,NM_182920.1(ADAMTS9) c.2176-98T>C:-,0.56:-,NOT_FOUND 3 64619048 rs11717158 C T 54 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.4189,T/0.5811;Gene=ADAMTS9/NM_182920.1/1;CC=c.2175+100G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:35:34:0:0:17,18:478,557:0.00,53.75:0.00,54.84:0.00,-1.09:0.00,1.00:0.00,1.00:0.00,0.98:60,60:21.6,37.5:0,0:0,0:26,56:125,94:23,21:-,NM_182920.1(ADAMTS9) c.2175+100G>A:-,0.54:-,NOT_FOUND 3 64619285 . C . . NT END=64619373;NT GT ./. 3 64619556 . C . . NT END=64627523;NT GT ./. 3 64627670 . C . . NT END=64633615;NT GT ./. 3 64633721 . C . . NT END=64635312;NT GT ./. 3 64635455 . C . . NT END=64636692;NT GT ./. 3 64636543 . CTT C 9 idl,rn VT=DEL;SST=Single;DP=10;NP=3;PC=0.005;Gene=ADAMTS9/NM_182920.1/1;CC=c.1463+148_1463+149delAA;VC=Intron;DM=ADAMTS9/Reprolysin;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CTT,I,C:9:10:2:4:4,2,3:140,68,129:0.00,5.97,8.64:0.00,5.97,8.64:0.00,0.00,0.00:0.00,0.00,0.62:0.00,0.00,0.62:0.00,0.00,0.00:60,60,60:90.5,64.0,96.0:0,0,1:0,0,0:91,51,60:59,97,90:16,3,19:-,NM_182920.1(ADAMTS9) c.1463+148_1463+149delAA:-,NOT_FOUND:-,NOT_FOUND 3 64636840 . C . . NT END=64640028;NT GT ./. 3 64640135 . C . . NT END=64640247;NT GT ./. 3 64640289 . C . . NT END=64641251;NT GT ./. 3 64641368 . C . . NT END=64641467;NT GT ./. 3 64641552 . C . . NT END=64644177;NT GT ./. 3 64644468 . C . . NT END=64666876;NT GT ./. 3 64667040 . C . . NT END=64672243;NT GT ./. 3 64667059 rs73124286 G T 69 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=G/0.7516,T/0.2484;PC=0.106;Gene=ADAMTS9/NM_182920.1/1;CC=c.517-20C>A;VC=Intron;DM=ADAMTS9/Pep_M12B_propep GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:52:25:0:0:28,24:853,732:0.00,69.04:0.00,12.70:0.00,56.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,44.3:0,0:0,0:105,95:34,54:23,30:-,NM_182920.1(ADAMTS9) c.517-20C>A:-,0.25:-,0.237198 3 64672645 . C . . NT END=64673218;NT GT ./. 3 64673334 . G . . NT END=65342052;NT GT ./. 3 65342453 rs148072697 G C 337 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=212;DB;DBA=NA;PAF=G/0.994,A/.,C/0.00599;NP=1;NP=21;PC=0.998;Gene=MAGI1/NM_001033057.1/0;CC=c.3989C>G;ProtCh=p.T1330S;VC=Missense;Gene=MAGI1/NM_015520.1/1;CC=c.*298C>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:212:146:0:0:105,107:3505,3400:336.79,0.00:179.12,0.00:157.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,9.2:0,0:0,0:68,58:74,87:35,39:NM_015520.1(MAGI1) c.*298C>G,-:0.01,-:0.007151,- 3 65342808 . C . . NT END=65344738;NT GT ./. 3 65344828 . C . . NT END=65344942;NT GT ./. 3 65345205 . G A 10 sb VT=SNV;PN=A;NN=A;SST=Single;DP=81;PC=1.000;Gene=MAGI1/NM_001033057.1/0;CC=c.3634+1669C>T;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.3719-378C>T;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.*1619C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:39:A,G:81:38:0:0:13,68:189,1963:9.88,0.00:12.81,0.00:-2.93,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:135.8,15.3:0,0:0,0:100,69:47,75:24,32:NM_015520.1(MAGI1) c.3719-378C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 65346026 rs533416565 CT C 29 sb;idl,rn VT=DEL;SST=Single;DP=85;DB;DBA=NA;PAF=NA;NP=13;PC=1.000;Gene=MAGI1/NM_001033057.1/0;CC=c.3634+847delA;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.3718+847delA;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.*797delA;VC=3UTR;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,T,I,C:79:50:8:16:59,2,6,12:1861,50,246,491:0.00,2.19,12.50,29.14:0.00,0.33,9.82,1.58:0.00,1.86,2.69,27.56:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:25.0,74.0,27.5,33.8:0,2,2,4:0,0,0,0:90,54,62,90:52,96,83,59:40,31,18,17:-,NM_015520.1(MAGI1) c.3718+847delA:-,NOT_FOUND:-,NOT_FOUND 3 65347013 . C . . NT END=65349139;NT GT ./. 3 65349284 . C . . NT END=65350339;NT GT ./. 3 65350401 . C . . NT END=65350527;NT GT ./. 3 65350622 . C . . NT END=65361419;NT GT ./. 3 65361203 rs13321366 C G 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.6979,G/0.3021;Gene=MAGI1/NM_001033057.1/0;CC=c.3196+217G>C;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.3280+217G>C;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.3283+217G>C;VC=Intron;DM=MAGI1/PDZ;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,G:8:8:0:0:5,3:174,95:0.00,8.63:0.00,8.73:0.00,-0.10:0.00,0.67:0.00,0.67:0.00,0.58:60,60:0.0,44.3:0,0:0,0:66,72:84,79:32,17:-,NM_015520.1(MAGI1) c.3280+217G>C:-,0.28:-,NOT_FOUND 3 65361369 rs202007900 CAGAG C 55 nt VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=CAGAG/0.9846,C/0.01538;NP=245;Gene=MAGI1/NM_001033057.1/0;CC=c.3196+47_3196+50delCTCT;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.3280+47_3280+50delCTCT;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.3283+47_3283+50delCTCT;VC=Intron;DM=MAGI1/PDZ;DM=MAGI1/PDZ;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAGAG,C:35:32:0:18:17,18:578,568:0.00,54.85:0.00,47.03:0.00,7.82:0.00,1.00:0.00,1.00:0.00,1.00:60,70:18.2,15.8:0,0:0,0:37,45:114,104:20,25:-,NM_015520.1(MAGI1) c.3280+47_3280+50delCTCT:-,0.02:-,0.03115 3 65361624 . C . . NT END=65364935;NT GT ./. 3 65365230 . C . . NT END=65367551;NT GT ./. 3 65367745 . C . . NT END=65369206;NT GT ./. 3 65369299 . C . . NT END=65372817;NT GT ./. 3 65372902 . C . . NT END=65376816;NT GT ./. 3 65377034 . C . . NT END=65387113;NT GT ./. 3 65387146 . C . . NT END=65387204;NT GT ./. 3 65387504 rs58137985 T A 125 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=89;DB;DBA=NA;PAF=T/0.6877,A/0.3123;PC=1.000;Gene=MAGI1/NM_001033057.1/0;CC=c.2168-359A>T;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.2168-359A>T;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.2168-359A>T;VC=Intron;DM=MAGI1/MAGI_u5;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:89:57:0:0:42,47:1317,1493:124.95,0.00:68.65,0.00:56.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,60:42.7,4.4:0,0:0,0:74,82:77,69:41,33:NM_015520.1(MAGI1) c.2168-359A>T,-:0.32,-:NOT_FOUND,- 3 65387611 . t . . NT END=65415194;NT GT ./. 3 65387626 rs146289627 C CT 75 rn VT=INS;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.9565,CT/0.04353;NP=66;Gene=MAGI1/NM_001033057.1/0;CC=c.2168-482dupA;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.2168-482dupA;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.2168-482dupA;VC=Intron;DM=MAGI1/MAGI_u5;DM=MAGI1/PDZ;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,CT:81:40:27:0:53,1,27:1727,10,840:0.00,-0.16,74.68:0.00,0.04,23.16:0.00,-0.20,51.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:9.2,47.0,20.3:0,0,0:0,0,0:88,89,90:56,34,60:29,0,33:-,NM_015520.1(MAGI1) c.2168-482_2168-481insA:-,0.06:-,NOT_FOUND 3 65387787 rs73127503 T G 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.9613,G/0.03874;PC=0.020;Gene=MAGI1/NM_001033057.1/0;CC=c.2168-642A>C;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.2168-642A>C;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.2168-642A>C;VC=Intron;DM=MAGI1/MAGI_u5;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:18:0:0:0:7,11:198,338:17.92,0.00:0.00,0.00:17.92,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,60:49.1,38.5:0,0:0,0:97,83:54,68:13,19:NM_015520.1(MAGI1) c.2168-642A>C,-:0.05,-:NOT_FOUND,- 3 65415816 . C . . NT END=65416373;NT GT ./. 3 65416022 rs4514994 T A 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.384,A/0.616;Gene=MAGI1/NM_001033057.1/0;CC=c.1547-207A>T;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.1547-207A>T;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.1547-207A>T;VC=Intron;DM=MAGI1/MAGI_u5;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,T:10:1:0:0:4,6:126,193:11.59,0.00:3.38,0.00:8.21,0.00:0.84,0.00:0.60,0.00:0.98,0.00:60,60:48.0,39.8:0,0:0,0:46,59:103,91:18,26:NM_015520.1(MAGI1) c.1547-207A>T,-:0.64,-:NOT_FOUND,- 3 65416116 rs4479537 G T 41 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.003594,T/0.9964;NP=549;PC=0.212;Gene=MAGI1/NM_001033057.1/0;CC=c.1546+258C>A;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.1546+258C>A;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.1546+258C>A;VC=Intron;DM=MAGI1/MAGI_u5;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:6:0:0:11:357:40.95:22.96:17.98:1.00:1.00:1.00:60:58.5:0:0:58:93:44:NM_015520.1(MAGI1) c.1546+258C>A,NM_015520.1(MAGI1) c.1546+258C>A:1,1:NOT_FOUND,NOT_FOUND 3 65416557 . C . . NT END=65422829;NT GT ./. 3 65416648 rs4688566 C A 125 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.003594,A/0.9964;NP=2841;Gene=MAGI1/NM_001033057.1/0;CC=c.1364-92G>T;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.1364-92G>T;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.1364-92G>T;VC=Intron;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:A:33:4:0:0:33:1093:125.00:11.43:113.57:1.00:1.00:1.00:60:40.6:0:0:84:67:41:NM_015520.1(MAGI1) c.1364-92G>T,NM_015520.1(MAGI1) c.1364-92G>T:1,1:NOT_FOUND,NOT_FOUND 3 65422923 . C . . NT END=65425553;NT GT ./. 3 65423079 rs5849667 CT C 11 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=78;Gene=MAGI1/NM_001033057.1/0;CC=c.1271-158delA;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.1271-158delA;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.1271-158delA;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:CT,I,C:8:0:1:4:3,1,4:96,27,116:0.00,2.10,11.40:0.00,0.00,0.00:0.00,2.10,11.40:0.00,0.00,0.87:0.00,0.00,0.00:0.00,0.00,0.87:60,60,60:41.3,0.0,13.2:0,0,0:0,0,0:133,14,105:15,135,44:4,0,15:-,NM_015520.1(MAGI1) c.1271-158delA:-,NOT_FOUND:-,NOT_FOUND 3 65425280 rs4618170 A G 44 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.03295,G/0.9671;Gene=MAGI1/NM_001033057.1/0;CC=c.1270+274T>C;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.1270+274T>C;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.1270+274T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:383:43.55:43.55:0.00:1.00:1.00:0.00:60:56.8:0:0:78:72:34:NM_015520.1(MAGI1) c.1270+274T>C,NM_015520.1(MAGI1) c.1270+274T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 65425393 rs6445477 T C 80 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.01757,C/0.9824;Gene=MAGI1/NM_001033057.1/0;CC=c.1270+161A>G;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.1270+161A>G;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.1270+161A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:27:C,G:22:22:0:0:21,1:703,29:79.89,2.03:68.37,2.03:11.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,64.0:0,0:0,0:50,140:99,11:38,0:NM_015520.1(MAGI1) c.1270+161A>G,NM_015520.1(MAGI1) c.1270+161A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 3 65425560 . TCTG T 26 rn VT=DEL;SST=Single;DP=107;NP=76;PC=0.138;Gene=MAGI1/NM_001033057.1/0;CC=c.1261_1263delCAG;ProtCh=p.Q421del;VC=InFrameDel;Gene=MAGI1/NM_015520.1/1;CC=c.1261_1263delCAG;ProtCh=p.Q421del;VC=InFrameDel;Gene=MAGI1/NM_004742.2/0;CC=c.1261_1263delCAG;ProtCh=p.Q421del;VC=InFrameDel;DM=MAGI1/PDZ;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:TCTG,T:107:82:0:13:95,12:2988,363:0.00,25.99:0.00,16.68:0.00,9.32:0.00,0.99:0.00,1.00:0.00,1.00:60,60:10.6,3.0:0,0:0,0:56,34:89,116:31,21:-,NM_015520.1(MAGI1) c.1234CAG[9] (p.Gln402[19]):-,NOT_FOUND:-,NOT_FOUND 3 65425688 . C . . NT END=65428466;NT GT ./. 3 65428525 . C . . NT END=65433696;NT GT ./. 3 65433736 . C . . NT END=65438932;NT GT ./. 3 65439016 . C . . NT END=65455957;NT GT ./. 3 65439026 rs376510497 G A 9 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=1.000;Gene=MAGI1/NM_001033057.1/0;CC=c.960-11C>T;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.960-11C>T;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.960-11C>T;VC=Intron;DM=MAGI1/WW;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:91:A,G:29:11:0:0:7,22:127,688:9.10,0.00:-1.08,0.00:10.18,0.00:0.96,0.00:0.92,0.00:0.99,0.00:60,60:76.6,13.7:0,0:0,0:45,130:106,21:24,10:NM_015520.1(MAGI1) c.960-11C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 65439050 . G A 8 idl,nt VT=INS;SST=Single;DP=21;NP=2;PC=0.003;Gene=MAGI1/NM_001033057.1/0;CC=c.960-35C>T;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.960-35C>T;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.960-35C>T;VC=Intron;DM=MAGI1/WW;DM=MAGI1/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:6:A,G,I,D:21:7:3:3:5,12,3,1:93,358,95,30:7.17,0.00,7.60,1.91:-0.41,0.00,4.31,-0.07:7.58,0.00,3.28,1.98:0.00,0.00,0.49,0.00:0.00,0.00,0.62,0.00:0.00,0.00,0.88,0.00:60,60,60,60:68.0,35.3,14.7,33.0:2,0,0,0:0,0,0,0:38,88,90,59:112,55,48,92:7,18,13,0:NM_015520.1(MAGI1) c.960-35C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 65449233 . ATGTGTGTGTGTG A 6 nt VT=DEL;SST=Single;DP=5;NP=13;PC=0.311;Gene=MAGI1/NM_001033057.1/0;CC=c.959+6713_959+6724delCACACACACACA;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.959+6713_959+6724delCACACACACACA;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.959+6713_959+6724delCACACACACACA;VC=Intron;DM=MAGI1/WW;DM=MAGI1/PDZ;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:ATGTGTGTGTGTG,A:4:4:0:3:2,2:67,101:0.00,6.41:0.00,3.16:0.00,3.26:0.00,0.46:0.00,0.87:0.00,0.80:60,60:0.0,0.0:0,1:0,0:99,76:22,75:14,1:-,NM_015520.1(MAGI1) c.959+6713_959+6724delCACACACACACA:-,NOT_FOUND:-,NOT_FOUND 3 65456163 . C . . NT END=65464266;NT GT ./. 3 65464474 . C . . NT END=65479186;NT GT ./. 3 65464522 rs533504233 G GT 63 rn VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1596;Gene=MAGI1/NM_001033057.1/0;CC=c.551-50dupA;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.551-50dupA;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.551-50dupA;VC=Intron;DM=MAGI1/WW;DM=MAGI1/WW;DM=MAGI1/Guanylate_kin;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:G,GT:23:4:20:0:4,19:130,618:0.00,62.80:0.00,5.07:0.00,57.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.2,13.4:0,1:0,0:136,111:14,39:11,17:-,NM_015520.1(MAGI1) c.551-50_551-49insA:-,NOT_FOUND:-,NOT_FOUND 3 65464625 rs7636096 G A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1373;PC=0.057;Gene=MAGI1/NM_001033057.1/0;CC=c.551-152C>T;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.551-152C>T;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.551-152C>T;VC=Intron;DM=MAGI1/WW;DM=MAGI1/WW;DM=MAGI1/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:187:21.56:0.00:21.56:1.00:0.00:1.00:60:40.7:0:0:87:64:34:NM_015520.1(MAGI1) c.551-152C>T,NM_015520.1(MAGI1) c.551-152C>T:1,1:NOT_FOUND,NOT_FOUND 3 65479068 rs7641222 A C 49 nt VT=SNV;PN=G;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4159,C/0.5841;Gene=MAGI1/NM_001033057.1/0;CC=c.550+119T>G;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.550+119T>G;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.550+119T>G;VC=Intron;DM=MAGI1/WW;DM=MAGI1/WW;DM=MAGI1/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:33:33:0:0:18,15:592,521:0.00,49.38:0.00,46.09:0.00,3.29:0.00,1.00:0.00,1.00:0.00,0.95:60,60:3.4,44.6:0,0:0,0:85,37:65,113:28,24:-,NM_015520.1(MAGI1) c.550+119T>G:-,0.6:-,NOT_FOUND 3 65479307 . C . . NT END=65484690;NT GT ./. 3 65484701 . A . . NT END=65535082;NT GT ./. 3 65484735 rs60116533 T TA 79 idl,rn VT=INS;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.7105,TA/0.2895;DB;DBA=NA;PAF=T/0.7105,TA/0.2895;NP=249;PC=0.028;Gene=MAGI1/NM_001033057.1/0;CC=c.431-5430dupT;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.431-5430dupT;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.431-5430dupT;VC=Intron;DM=MAGI1/Guanylate_kin;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TA,D:35:30:26:2:9,24,2:244,825,64:0.00,78.80,4.61:0.00,35.98,3.41:0.00,42.82,1.20:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,70,60:3.2,13.2,0.0:0,2,0:0,0,0:133,82,94:9,62,56:9,26,5:-,NM_015520.1(MAGI1) c.431-5430_431-5429insT:-,NOT_FOUND:-,NOT_FOUND 3 65535176 . G . . NT END=65605525;NT GT ./. 3 65605663 . C . . NT END=65607646;NT GT ./. 3 65607531 rs3749454 T C 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.7921,C/0.2079;Gene=MAGI1/NM_001033057.1/0;CC=c.430+116A>G;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.430+116A>G;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.430+116A>G;VC=Intron;DM=MAGI1/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:158:C,T:10:10:0:0:5,5:152,160:14.53,0.00:14.68,0.00:-0.15,0.00:1.00,0.00:1.00,0.00:0.67,0.00:60,60:30.4,14.0:0,0:0,0:115,13:36,137:5,1:NM_015520.1(MAGI1) c.430+116A>G,-:0.2,-:NOT_FOUND,- 3 65607592 rs56026417 T TCA 34 idl,rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.8532,TCA/.,TCACA/.,TCACACA/.,TCACACACA/.,TCACACACACA/0.1468,TCACACACACACA/.;DB;DBA=NA;PAF=NA;NP=1092;NP=6;PC=0.017;Gene=MAGI1/NM_001033057.1/0;CC=c.430+54_430+55insTG;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.430+54_430+55insTG;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.430+54_430+55insTG;VC=Intron;DM=MAGI1/Guanylate_kin;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:T,TCA:13:17:14:0:3,10:100,451:0.00,34.01:0.00,30.61:0.00,3.40:0.00,1.00:0.00,1.00:0.00,0.86:60,60:22.7,50.0:0,4:0,0:121,27:25,124:7,13:-,NM_015520.1(MAGI1) c.430+54_430+55insTG:-,NOT_FOUND:-,NOT_FOUND 3 65607637 rs3749455 A G 130 nt VT=SNV;PN=C;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.3249,G/0.6751;Gene=MAGI1/NM_001033057.1/0;CC=c.430+10T>C;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.430+10T>C;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.430+10T>C;VC=Intron;DM=MAGI1/Guanylate_kin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:30:0:0:37:1130:130.44:80.87:49.57:1.00:1.00:1.00:60:36.7:0:0:26:124:14:NM_015520.1(MAGI1) c.430+10T>C,NM_015520.1(MAGI1) c.430+10T>C:0.67,0.67:0.821775,0.821775 3 65607764 . C . . NT END=66023670;NT GT ./. 3 66023592 rs28696109 A G 288 nt VT=SNV;PN=C;NN=G;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.25,G/0.75;PC=0.991;Gene=MAGI1/NM_001033057.1/0;CC=c.313+79T>C;VC=Intron;Gene=MAGI1/NM_015520.1/1;CC=c.313+79T>C;VC=Intron;Gene=MAGI1/NM_004742.2/0;CC=c.313+79T>C;VC=Intron;DM=MAGI1/MAGI_u1;DM=MAGI1/MAGI_u1;DM=MAGI1/WW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:86:83:0:0:86:2475:287.91:236.38:51.53:1.00:1.00:1.00:60:41.2:0:0:51:99:31:NM_015520.1(MAGI1) c.313+79T>C,NM_015520.1(MAGI1) c.313+79T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 3 66023984 . G . . NT END=66271476;NT GT ./. 3 66051178 rs575524075 G GCACA 18 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.4996,A/0.5004;DB;DBA=NA;PAF=G/0.8029,GCA/.,GCACA/0.1971;DB;DBA=NA;PAF=G/0.8029,GCACA/0.1971,GCGCA/.;NP=1;NP=1;NP=14;NP=2;NP=24;NP=44;NP=54;NP=61;NP=9;NP=9;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GCACA:5:5:5:0:5:160:18.38:12.92:5.47:1.00:1.00:1.00:60:4.2:0:0:59:90:24:chr3 g.66051178_66051179insCACA (intergenic),chr3 g.66051178_66051179insCACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 66271597 . C . . NT END=66286925;NT GT ./. 3 66286831 rs188291587 G T 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.7386,T/0.2614;PC=0.001;Gene=SLC25A26/NM_173471.3/1;CC=c.34-137G>T;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.-74-6796G>T;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:22:22:0:0:1,10,11:7,339,354:-0.02,0.00,34.33:-0.02,0.00,34.33:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:52.0,7.3,84.1:0,0,0:0,0,0:72,49,56:49,102,95:0,25,25:-,NM_173471.3(SLC25A26) c.34-137G>T:-,0.22:-,NOT_FOUND 3 66286832 rs180760147 C G 34 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.7386,G/0.2614;Gene=SLC25A26/NM_173471.3/1;CC=c.34-136C>G;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.-74-6795C>G;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:22:0:0:11,11:356,354:0.00,33.98:0.00,33.98:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.4,84.1:0,0:0,0:51,57:100,94:23,25:-,NM_173471.3(SLC25A26) c.34-136C>G:-,0.21:-,NOT_FOUND 3 66286929 . C CT 13 idl,rn VT=INS;SST=Single;DP=64;NP=1;PC=0.002;Gene=SLC25A26/NM_173471.3/1;CC=c.34-29_34-28insT;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.-74-6688_-74-6687insT;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,CT:62:55:8:0:56,6:1756,255:0.00,13.11:0.00,9.48:0.00,3.63:0.00,0.81:0.00,0.98:0.00,0.71:60,60:42.1,64.3:0,2:0,0:42,63:102,84:25,11:-,NM_173471.3(SLC25A26) c.34-39_34-38insT:-,NOT_FOUND:-,NOT_FOUND 3 66287056 rs146159281 G A 96 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=82;DB;DBA=NA;PAF=G/0.5515,A/0.4485;PC=0.085;Gene=SLC25A26/NM_173471.3/1;CC=c.122G>A;ProtCh=p.S41N;VC=Missense;Gene=SLC25A26/NM_001164796.1/0;CC=c.-74-6571G>A;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:82:35:0:0:33,49:1047,1592:96.42,0.00:27.86,0.00:68.56,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.9,11.1:0,1:0,0:90,89:58,62:33,20:NM_173471.3(SLC25A26) c.122G>A (p.Ser41Asn),-:0.47,-:0.403636,- 3 66287166 . T . . NT END=66293621;NT GT ./. 3 66287334 rs142408865 A C 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5401,C/0.4599;Gene=SLC25A26/NM_173471.3/1;CC=c.190+210A>C;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.-74-6293A>C;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,C:5:0:0:0:2,3:66,99:0.00,9.87:0.00,0.00:0.00,9.87:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,55.3:0,0:0,0:104,126:46,25:9,6:-,NM_173471.3(SLC25A26) c.190+210A>C:-,0.48:-,NOT_FOUND 3 66293742 . T . . NT END=66312466;NT GT ./. 3 66293766 rs66918103 T C 57 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.8852,C/0.1148;PC=0.300;Gene=SLC25A26/NM_173471.3/1;CC=c.300+30T>C;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.36+30T>C;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:7:0:0:17,8:558,268:57.08,0.00:11.18,0.00:45.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.6,0.0:0,0:0,0:94,107:57,44:32,24:NM_173471.3(SLC25A26) c.300+30T>C,-:0.15,-:0.172305,- 3 66293851 rs1678092 T C 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.5371,C/0.4629;PC=0.083;Gene=SLC25A26/NM_173471.3/1;CC=c.300+115T>C;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.36+115T>C;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:97:C,T:9:0:0:0:6,3:187,101:19.07,0.00:0.00,0.00:19.07,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:64.0,0.0:0,0:0,0:126,96:25,55:12,16:NM_173471.3(SLC25A26) c.300+115T>C,-:0.5,-:NOT_FOUND,- 3 66312587 . G . . NT END=66313719;NT GT ./. 3 66313840 . A . . NT END=66396749;NT GT ./. 3 66396845 rs332354 G A 50 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3462,A/0.6538;Gene=SLC25A26/NM_173471.3/1;CC=c.498+13G>A;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.234+13G>A;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:34:12:0:0:17,17:522,540:50.06,0.00:12.36,0.00:37.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,9.2:0,0:0,0:94,69:53,81:15,40:NM_173471.3(SLC25A26) c.498+13G>A,-:0.63,-:0.540624,- 3 66396870 . T . . NT END=66413258;NT GT ./. 3 66396898 rs71616220 G GAAGAGGAGA 14 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.599,GAAGAGTAGA/0.401;DB;DBA=NA;PAF=G/0.599,GAAGAGTAGA/0.401;NP=1;Gene=SLC25A26/NM_173471.3/1;CC=c.498+71_498+72insGAGAAAGAG;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.234+71_234+72insGAGAAAGAG;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:G,GAAGAGGAGA:19:5:5:0:14,5:468,168:0.00,14.43:0.00,2.93:0.00,11.50:0.00,0.86:0.00,0.77:0.00,0.99:60,60:15.2,20.2:0,0:0,0:117,86:32,65:19,12:-,NM_173471.3(SLC25A26) c.498+66_498+67insAAGAGGAGA:-,NOT_FOUND:-,NOT_FOUND 3 66397139 . CGT C 8 rn VT=DEL;SST=Single;DP=10;NP=23;PC=0.075;Gene=SLC25A26/NM_173471.3/1;CC=c.498+352_498+353delGT;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.234+352_234+353delGT;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:CGT,T,C:9:5:0:4:5,1,3:149,23,127:0.00,1.55,8.49:0.00,1.71,5.68:0.00,-0.16,2.81:0.00,0.00,0.62:0.00,0.00,0.82:0.00,0.00,0.86:60,36,70:13.4,191.0,13.7:0,0,1:0,0,0:108,65,38:42,50,112:12,0,21:-,NM_173471.3(SLC25A26) c.498+308_498+309delGT:-,NOT_FOUND:-,NOT_FOUND 3 66413111 rs332387 G T 19 nt VT=SNV;PN=T;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.357,T/0.643;PC=0.906;Gene=SLC25A26/NM_173471.3/1;CC=c.499-173G>T;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.235-173G>T;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:14:14:0:0:8,6:272,198:0.00,18.51:0.00,18.51:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:8.4,57.0:0,0:0,0:90,80:60,70:29,26:-,NM_173471.3(SLC25A26) c.499-173G>T:-,0.62:-,NOT_FOUND 3 66413130 rs332386 T A 15 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.357,A/0.643;PC=0.995;Gene=SLC25A26/NM_173471.3/1;CC=c.499-154T>A;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.235-154T>A;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:168:A,T:15:15:0:0:6,9:169,311:15.36,0.00:15.36,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:55.5,7.4:0,0:0,0:81,104:69,46:29,37:NM_173471.3(SLC25A26) c.499-154T>A,-:0.62,-:NOT_FOUND,- 3 66413379 . A . . NT END=66419873;NT GT ./. 3 66419793 rs370489280 CCAGGTGTA C 43 nt VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=CCAGGTGTA/0.903,C/0.09704;DB;DBA=NA;PAF=CCAGGTGTA/0.903,C/0.09704;NP=276;Gene=SLC25A26/NM_173471.3/1;CC=c.569-106_569-99delGGTGTACA;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.305-106_305-99delGGTGTACA;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CCAGGTGTA,C:22:22:0:13:9,13:309,435:0.00,43.24:0.00,38.25:0.00,4.98:0.00,1.00:0.00,1.00:0.00,0.99:60,60:1.4,0.0:0,0:0,0:39,44:112,107:26,22:-,NM_173471.3(SLC25A26) c.569-108_569-101delCAGGTGTA:-,0.11:-,NOT_FOUND 3 66419942 rs1129179 A G 83 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.9012,G/0.09884,T/.;PC=0.833;Gene=SLC25A26/NM_173471.3/1;CC=c.609A>G;ProtCh=p.A203=;VC=Silent;Gene=SLC25A26/NM_001164796.1/0;CC=c.345A>G;ProtCh=p.A115=;VC=Silent;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:44:27:0:0:19,25:619,841:0.00,82.96:0.00,33.83:0.00,49.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.5,66.7:0,0:0,0:67,77:78,74:29,25:-,NM_173471.3(SLC25A26) c.609A>G (p.(=)):-,0.11:-,0.148547 3 66419956 rs13874 C T 85 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.3201,G/.,T/0.6799;PC=1.000;Gene=SLC25A26/NM_173471.3/1;CC=c.623C>T;ProtCh=p.T208M;VC=Missense;Gene=SLC25A26/NM_001164796.1/0;CC=c.359C>T;ProtCh=p.T120M;VC=Missense;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:23:0:0:19,25:601,862:0.00,85.06:0.00,28.98:0.00,56.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.3,67.3:0,0:0,0:81,83:64,62:29,27:-,NM_173471.3(SLC25A26) c.623C>T (p.Thr208Met):-,0.65:-,0.556897 3 66419994 . T . . NT END=66420929;NT GT ./. 3 66421050 . C . . NT END=66428112;NT GT ./. 3 66421147 rs332378 T C 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.7718,C/0.2282;Gene=SLC25A26/NM_173471.3/1;CC=c.707+121T>C;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.443+121T>C;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:0:0:0:11,13:370,413:35.06,0.00:0.00,0.00:35.06,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:63.7,1.8:0,0:0,0:116,118:35,33:15,12:NM_173471.3(SLC25A26) c.707+121T>C,-:0.23,-:NOT_FOUND,- 3 66427885 rs231276 A G 12 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2416,G/0.7584;PC=0.002;Gene=SLC25A26/NM_173471.3/1;CC=c.708-229A>G;VC=Intron;Gene=SLC25A26/NM_001164796.1/0;CC=c.444-229A>G;VC=Intron;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding;DM=SLC25A26/Mito_carr;DM=SLC25A26/Mito_carr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:4:0:0:4:100:11.83:11.83:0.00:1.00:1.00:0.00:60:41.0:0:0:44:106:20:NM_173471.3(SLC25A26) c.708-229A>G,NM_173471.3(SLC25A26) c.708-229A>G:0.75,0.75:NOT_FOUND,NOT_FOUND 3 66428233 . G . . NT END=66430686;NT GT ./. 3 66428282 rs1046844 C T 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.7121,T/0.2879;Gene=SLC25A26/NM_173471.3/1;CC=c.*51C>T;VC=3UTR;Gene=SLC25A26/NM_001164796.1/0;CC=c.*51C>T;VC=3UTR;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:34:14:0:0:16,18:551,565:0.00,54.88:0.00,10.07:0.00,44.80:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.2,37.7:0,0:0,0:94,102:56,48:32,31:-,NM_173471.3(SLC25A26) c.*51C>T:-,0.27:-,0.318619 3 66428450 rs1046867 G A 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.7252,A/0.2748;Gene=SLC25A26/NM_173471.3/1;CC=c.*219G>A;VC=3UTR;Gene=SLC25A26/NM_001164796.1/0;CC=c.*219G>A;VC=3UTR;Gene=SLC25A26/NR_028475.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:95:A,G:8:0:0:0:5,3:176,97:17.69,0.00:0.00,0.00:17.69,0.00:0.97,0.00:0.00,0.00:0.97,0.00:60,60:35.2,16.0:0,0:0,0:99,70:52,75:40,11:NM_173471.3(SLC25A26) c.*219G>A,-:0.26,-:NOT_FOUND,- 3 66430467 rs146526780 C G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.9962,G/0.003794;NP=14;PC=1.000;Gene=LRIG1/NM_015541.2/1;CC=c.*220G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:C,G:8:8:0:0:4,4:116,135:0.00,13.01:0.00,13.01:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:25.8,39.8:0,0:0,0:78,32:73,116:25,4:-,NM_015541.2(LRIG1) c.*220G>C:-,0.01:-,NOT_FOUND 3 66430811 rs2279290 T G 186 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=T/0.892,G/0.108;PC=1.000;Gene=LRIG1/NM_015541.2/1;CC=c.3158A>C;ProtCh=p.Q1053P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:125:88:0:0:66,59:1922,1964:185.79,0.00:86.14,0.00:99.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,8.0:0,0:0,0:58,82:91,69:39,35:NM_015541.2(LRIG1) c.3158A>C (p.Gln1053Pro),-:0.12,-:0.165462,- 3 66430914 . C . . NT END=66431000;NT GT ./. 3 66431280 rs9877201 C T 206 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=127;DB;DBA=NA;PAF=C/0.8894,A/.,T/0.1106;Gene=LRIG1/NM_015541.2/1;CC=c.2776G>A;ProtCh=p.G926S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:127:68:0:0:63,64:1899,2135:0.00,205.85:0.00,77.79:0.00,128.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,39.4:0,0:0,0:90,87:55,53:38,33:-,NM_015541.2(LRIG1) c.2776G>A (p.Gly926Ser):-,0.1:-,0.121175 3 66431286 . C . . NT END=66431902;NT GT ./. 3 66431532 rs332372 A G 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.2268,G/0.7732;Gene=LRIG1/NM_015541.2/1;CC=c.2771-247T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:G:13:0:0:0:13:416:47.72:0.00:47.72:1.00:0.00:1.00:60:56.1:0:0:102:47:22:NM_015541.2(LRIG1) c.2771-247T>C,NM_015541.2(LRIG1) c.2771-247T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 3 66431602 rs2242285 A G 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2971,G/0.7029;PC=0.003;Gene=LRIG1/NM_015541.2/1;CC=c.2770+301T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G,T:9:3:0:0:8,1:224,13:25.76,0.86:9.07,0.00:16.69,0.86:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.8,84.0:0,0:0,0:99,150:51,1:22,0:NM_015541.2(LRIG1) c.2770+301T>C,NM_015541.2(LRIG1) c.2770+301T>C:0.71,0.71:NOT_FOUND,NOT_FOUND 3 66432056 . C . . NT END=66432696;NT GT ./. 3 66432276 rs2242284 A G 40 nt VT=SNV;PN=C;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.3059,G/0.6941;Gene=LRIG1/NM_015541.2/1;CC=c.2618-221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:C,G:12:1:0:0:1,11:6,349:0.22,39.73:0.00,2.84:0.22,36.89:0.00,1.00:0.00,0.94:0.00,1.00:60,60:23.0,46.1:0,0:0,0:57,115:92,36:0,27:NM_015541.2(LRIG1) c.2618-221T>C,NM_015541.2(LRIG1) c.2618-221T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 3 66432680 rs332371 A G 358 nt VT=SNV;PN=C;NN=G;SST=Single;DP=103;DB;DBA=NA;PAF=A/0.2236,C/.,G/0.7764,T/.;Gene=LRIG1/NM_015541.2/1;CC=c.2617+17T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:103:81:0:0:1,1,101:11,5,3117:0.00,0.02,357.57:0.00,0.00,223.76:0.00,0.02,133.81:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:48.0,115.0,39.6:0,0,0:0,0,0:81,90,49:70,61,96:0,0,29:NM_015541.2(LRIG1) c.2617+17T>C,NM_015541.2(LRIG1) c.2617+17T>C:0.77,0.77:0.698139,0.698139 3 66432823 . C . . NT END=66433405;NT GT ./. 3 66433093 rs332370 A G 29 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2234,G/0.7766;Gene=LRIG1/NM_015541.2/1;CC=c.2492-271T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:6:0:0:8:250:28.81:21.36:7.45:1.00:1.00:1.00:60:70.6:0:0:60:90:13:NM_015541.2(LRIG1) c.2492-271T>C,NM_015541.2(LRIG1) c.2492-271T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 3 66433176 rs1809444 T A 28 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=LRIG1/NM_015541.2/1;CC=c.2491+230A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:244:28.19:28.19:0.00:1.00:1.00:0.00:60:54.6:0:0:110:40:33:NM_015541.2(LRIG1) c.2491+230A>T,NM_015541.2(LRIG1) c.2491+230A>T:0.7,0.7:NOT_FOUND,NOT_FOUND 3 66433312 rs900172 A G 201 nt VT=SNV;PN=C;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.2979,G/0.7021;Gene=LRIG1/NM_015541.2/1;CC=c.2491+94T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:165:G:59:59:0:0:59:1730:200.84:194.97:5.87:1.00:1.00:1.00:60:38.4:0:0:40:102:29:NM_015541.2(LRIG1) c.2491+94T>C,NM_015541.2(LRIG1) c.2491+94T>C:0.7,0.7:NOT_FOUND,NOT_FOUND 3 66433676 rs900171 A G 683 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=185;DB;DBA=NA;PAF=A/0.3055,G/0.6945;PC=1.000;Gene=LRIG1/NM_015541.2/1;CC=c.2221T>C;ProtCh=p.L741=;VC=Silent;DM=LRIG1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:185:113:0:0:184,1:5959,10:683.01,0.05:308.91,0.00:374.10,0.05:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.9,20.0:0,0:0,0:77,56:64,95:38,0:NM_015541.2(LRIG1) c.2221T>C (p.(=)),NM_015541.2(LRIG1) c.2221T>C (p.(=)):0.7,0.7:0.608565,0.608565 3 66433826 . C . . NT END=66434414;NT GT ./. 3 66433937 rs9872772 T G 77 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.6967,G/0.3033;Gene=LRIG1/NM_015541.2/1;CC=c.2072-112A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:41:2:0:0:1,23,17:13,775,488:0.19,76.65,0.00:-0.02,-0.53,0.00:0.21,77.18,0.00:0.00,1.00,0.00:0.00,0.84,0.00:0.00,1.00,0.00:60,60,60:23.0,41.7,18.4:0,0,0:0,0,0:1,87,109:150,63,41:0,33,30:NM_015541.2(LRIG1) c.2072-112A>C,-:0.28,-:NOT_FOUND,- 3 66434372 rs548995089 T TCACACA 103 idl,nt VT=INS;SST=Single;DP=106;DB;DBA=NA;PAF=T/0.3427,A/0.1919;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8508,TCA/0.09411,TCACA/.,TCACACA/.,TCACACACA/0.06988,TCACACACACA/0.04866,TCACACACACACA/0.06828;DB;DBA=NA;PAF=T/0.8508,TCA/0.09411,TCACA/.,TCACACA/.,TCACACACA/0.06988,TCACACACACA/0.04866,TCACACACACACA/0.06828;NP=1;NP=17;NP=178;NP=2;NP=21;NP=4;NP=9;Gene=LRIG1/NM_015541.2/1;CC=c.2071+42_2071+43insTGTGTG;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TCACACA,D:100:93:41:7:3,55,35,7:95,1785,1304,236:5.61,0.00,103.23,17.06:4.58,0.00,71.68,9.61:1.03,0.00,31.55,7.45:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:31.7,16.7,7.9,10.0:0,0,6,0:0,0,0,0:73,68,57,43:77,81,90,108:34,34,23,17:-,NM_015541.2(LRIG1) c.2071+42_2071+43insTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 66434643 rs2306272 T C 258 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=147;DB;DBA=NA;PAF=T/0.6378,C/0.3622;PC=0.991;Gene=LRIG1/NM_015541.2/1;CC=c.1843A>G;ProtCh=p.M615V;VC=Missense;DM=LRIG1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:147:82:0:0:87,60:2596,2000:257.68,0.00:103.02,0.00:154.66,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,5.6:0,0:0,0:94,65:54,69:36,34:NM_015541.2(LRIG1) c.1843A>G (p.Met615Val),-:0.38,-:0.230278,- 3 66434697 . C . . NT END=66436404;NT GT ./. 3 66436726 . C . . NT END=66444463;NT GT ./. 3 66436891 rs13063913 T C 24 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8165,C/0.1835;Gene=LRIG1/NM_015541.2/1;CC=c.1469-166A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:79:C,T:11:0:0:0:8,3:233,89:24.30,0.00:0.00,0.00:24.30,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:29.1,2.7:0,0:0,0:116,94:34,55:8,10:NM_015541.2(LRIG1) c.1469-166A>G,-:0.19,-:NOT_FOUND,- 3 66444138 rs6790222 G T 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.7043,T/0.2957;Gene=LRIG1/NM_015541.2/1;CC=c.1468+326C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:G,T:7:6:0:0:4,3:125,84:0.00,7.75:0.00,4.44:0.00,3.31:0.00,0.69:0.00,0.95:0.00,0.62:60,60:0.0,66.3:0,0:0,0:71,69:79,82:42,4:-,NM_015541.2(LRIG1) c.1468+326C>A:-,0.27:-,NOT_FOUND 3 66444330 rs67550176 T C 60 nt VT=SNV;PN=A;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.9085,C/0.09145;Gene=LRIG1/NM_015541.2/1;CC=c.1468+134A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:33:0:0:19,15:613,409:60.26,0.00:57.32,0.00:2.95,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:37.3,5.8:0,0:0,0:43,49:106,102:37,24:NM_015541.2(LRIG1) c.1468+134A>G,-:0.11,-:NOT_FOUND,- 3 66444615 rs6793110 G A 160 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.7185,A/0.2815;PC=0.955;Gene=LRIG1/NM_015541.2/1;CC=c.1317C>T;ProtCh=p.S439=;VC=Silent;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:115:55:0:0:53,61,1:1685,1978,34:159.59,0.00,1.60:49.95,0.00,-0.08:109.64,0.00,1.68:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:40.3,25.4,41.0:0,0,0:0,0,0:95,63,133:47,87,18:34,29,0:NM_015541.2(LRIG1) c.1317C>T (p.(=)),-:0.26,-:0.30732,- 3 66444628 . C . . NT END=66448535;NT GT ./. 3 66444697 rs17775391 A C 133 nt VT=SNV;PN=A;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.6394,C/0.3606;Gene=LRIG1/NM_015541.2/1;CC=c.1305-70T>G;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:60:21:0:0:21,39:687,1310:0.00,132.72:0.00,24.26:0.00,108.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:27.7,36.0:0,0:0,0:91,109:58,42:15,21:-,NM_015541.2(LRIG1) c.1305-70T>G:-,0.39:-,NOT_FOUND 3 66448307 rs12633819 A G 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.5673,G/0.4327;Gene=LRIG1/NM_015541.2/1;CC=c.1304+229T>C;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,G:6:6:0:0:2,4:63,140:0.00,14.25:0.00,14.25:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:12.5,35.0:0,0:0,0:42,37:107,113:23,9:-,NM_015541.2(LRIG1) c.1304+229T>C:-,0.44:-,NOT_FOUND 3 66448608 . C . . NT END=66449393;NT GT ./. 3 66449142 rs783512 G C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=LRIG1/NM_015541.2/1;CC=c.1232+252C>G;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:19:A,C,G:5:5:0:0:1,3,1:11,98,31:0.79,10.17,0.00:0.79,10.17,0.00:0.00,0.00,0.00:0.00,0.78,0.00:0.00,0.78,0.00:0.00,0.00,0.00:60,60,60:89.0,32.7,10.0:0,0,0:0,0,0:17,49,6:134,101,144:0,13,0:NM_015541.2(LRIG1) c.1232+252C>G,-:0.34,-:NOT_FOUND,- 3 66449466 . C . . NT END=66452032;NT GT ./. 3 66451821 rs13074230 A C 10 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8107,C/0.1893;PC=0.135;Gene=LRIG1/NM_015541.2/1;CC=c.1161-2356T>G;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,C:6:6:0:0:3,3:100,99:0.00,9.52:0.00,9.52:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:11.7,67.0:0,0:0,0:59,24:92,127:51,2:-,NM_015541.2(LRIG1) c.1161-2356T>G:-,0.2:-,NOT_FOUND 3 66451907 rs12494912 T C 50 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8097,C/0.1903;Gene=LRIG1/NM_015541.2/1;CC=c.1161-2442A>G;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:16,10:503,332:50.39,0.00:50.39,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:49.7,3.2:0,0:0,0:47,65:103,85:19,30:NM_015541.2(LRIG1) c.1161-2442A>G,-:0.19,-:NOT_FOUND,- 3 66452105 . C . . NT END=66454658;NT GT ./. 3 66454871 . A . . NT END=66455621;NT GT ./. 3 66454994 rs3845892 G A 93 nt VT=SNV;PN=C;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.09265,A/0.9073;Gene=LRIG1/NM_015541.2/1;CC=c.1160+628C>T;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:0:0:0:25:814:93.32:0.00:93.32:1.00:0.00:1.00:60:34.0:0:0:100:51:30:NM_015541.2(LRIG1) c.1160+628C>T,NM_015541.2(LRIG1) c.1160+628C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 66455703 . C . . NT END=66456176;NT GT ./. 3 66455797 rs3796148 T C 34 nt VT=SNV;PN=C;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.7875,C/0.2125;Gene=LRIG1/NM_015541.2/1;CC=c.1080-95A>G;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:3:0:0:12,12:356,378:34.10,0.00:1.04,0.00:33.06,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:44.8,6.1:0,0:0,0:116,127:34,22:19,20:NM_015541.2(LRIG1) c.1080-95A>G,-:0.21,-:NOT_FOUND,- 3 66455887 rs3796149 C T 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8143,T/0.1857;Gene=LRIG1/NM_015541.2/1;CC=c.1080-185G>A;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:184:C,G,T:14:2:0:0:7,1,6:214,14,182:0.00,0.56,17.16:0.00,-0.03,3.37:0.00,0.59,13.80:0.00,0.00,0.96:0.00,0.00,0.73:0.00,0.00,1.00:60,60,60:14.3,30.0,78.7:0,0,0:0,0,0:42,16,71:109,134,76:32,0,21:-,NM_015541.2(LRIG1) c.1080-185G>A:-,0.19:-,NOT_FOUND 3 66456840 . A . . NT END=66457771;NT GT ./. 3 66457076 rs13064603 C T 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8033,T/0.1967;Gene=LRIG1/NM_015541.2/1;CC=c.1079+696G>A;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:170:C,T:15:0:0:0:9,6:251,170:0.00,15.50:0.00,0.00:0.00,15.50:0.00,0.96:0.00,0.00:0.00,0.96:60,60:6.0,49.0:0,0:0,0:104,116:47,35:27,15:-,NM_015541.2(LRIG1) c.1079+696G>A:-,0.2:-,NOT_FOUND 3 66457916 . C . . NT END=66460552;NT GT ./. 3 66458046 rs9869057 T C 97 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.04073,C/0.9593;Gene=LRIG1/NM_015541.2/1;CC=c.936-131A>G;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:C:31:2:0:0:31:825:97.17:5.01:92.15:1.00:1.00:1.00:60:42.1:12:0:97:54:29:NM_015541.2(LRIG1) c.936-131A>G,NM_015541.2(LRIG1) c.936-131A>G:0.91,0.91:NOT_FOUND,NOT_FOUND 3 66458047 rs397700512 G GCA 33 nt VT=INS;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.6558,GCA/0.3442;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.6558,GCA/0.3442;NP=318;Gene=LRIG1/NM_015541.2/1;CC=c.936-133_936-132insTG;VC=Intron;DM=LRIG1/LRR_8;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GCA:29:1:12:0:17,12:504,358:0.00,33.01:0.00,1.75:0.00,31.26:0.00,1.00:0.00,0.61:0.00,1.00:60,60:46.3,37.1:0,0:0,0:103,89:48,56:27,34:-,NM_015541.2(LRIG1) c.936-133_936-132insTG:-,NOT_FOUND:-,NOT_FOUND 3 66460337 rs13087232 C A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.8131,A/0.1869;Gene=LRIG1/NM_015541.2/1;CC=c.935+216G>T;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:110:A,C:14:14:0:0:4,10:121,300:10.38,0.00:10.45,0.00:-0.07,0.00:0.77,0.00:0.77,0.00:0.52,0.00:60,60:32.5,8.7:0,0:0,0:27,43:124,108:5,29:NM_015541.2(LRIG1) c.935+216G>T,-:0.19,-:NOT_FOUND,- 3 66460697 . C . . NT END=66463294;NT GT ./. 3 66460858 rs78673228 T C 41 nt VT=SNV;PN=G;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.9625,C/0.03754,G/.;Gene=LRIG1/NM_015541.2/1;CC=c.792-162A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:34:1:0:0:14,20:441,610:40.74,0.00:-0.23,0.00:40.97,0.00:1.00,0.00:0.61,0.00:1.00,0.00:60,60:38.9,6.3:0,0:0,0:98,112:53,37:37,28:NM_015541.2(LRIG1) c.792-162A>G,-:0.06,-:NOT_FOUND,- 3 66463251 rs4856924 G A 294 nt VT=SNV;PN=C;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.07648,A/0.9235;Gene=LRIG1/NM_015541.2/1;CC=c.791+44C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:78:70:0:0:78:2565:293.65:214.21:79.45:1.00:1.00:1.00:60:57.9:0:0:49:96:26:NM_015541.2(LRIG1) c.791+44C>T,NM_015541.2(LRIG1) c.791+44C>T:0.93,0.93:0.932339,0.932339 3 66463254 rs12493943 C G 126 nt VT=SNV;PN=A;NN=A;SST=Single;DP=79;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.7999,G/0.2001,T/.;Gene=LRIG1/NM_015541.2/1;CC=c.791+41G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:79:71:0:0:41,38:1360,1316:0.00,125.98:0.00,84.76:0.00,41.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:40.2,75.4:0,0:0,0:48,46:98,104:28,20:-,NM_015541.2(LRIG1) c.791+41G>C:-,0.2:-,0.140704 3 66463439 . C . . NT END=66465343;NT GT ./. 3 66465259 rs4856928 T C 80 nt VT=SNV;PN=G;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.3359,C/0.6641;PC=0.017;Gene=LRIG1/NM_015541.2/1;CC=c.647+85A>G;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:45:0:0:25,21:819,587:80.03,0.00:72.05,0.00:7.98,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:42.8,24.0:0,0:0,0:44,25:107,124:29,17:NM_015541.2(LRIG1) c.647+85A>G,-:0.68,-:NOT_FOUND,- 3 66465488 . C . . NT END=66467552;NT GT ./. 3 66467365 rs6786813 G A 30 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.757,A/0.243;Gene=LRIG1/NM_015541.2/1;CC=c.503+188C>T;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:12,10:310,288:30.06,0.00:30.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:63.2,15.6:0,0:0,0:65,61:84,88:33,33:NM_015541.2(LRIG1) c.503+188C>T,-:0.23,-:NOT_FOUND,- 3 66467691 . C . . NT END=66501982;NT GT ./. 3 66501733 rs397989937 TA T 13 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=40;Gene=LRIG1/NM_015541.2/1;CC=c.365+249delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:TA,T:6:7:0:5:2,4:39,161:0.00,13.03:0.00,13.03:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:70.0,9.0:0,1:0,0:61,27:89,124:43,12:-,NM_015541.2(LRIG1) c.365+249delT:-,NOT_FOUND:-,NOT_FOUND 3 66502058 . C . . NT END=66512861;NT GT ./. 3 66502234 rs3796150 A G 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.2194,G/0.7806;PC=0.003;Gene=LRIG1/NM_015541.2/1;CC=c.291-177T>C;VC=Intron;DM=LRIG1/LRR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,G:10:0:0:0:2,8:67,225:0.00,24.06:0.00,0.00:0.00,24.06:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.5,46.4:0,0:0,0:108,107:42,44:25,14:-,NM_015541.2(LRIG1) c.291-177T>C:-,0.77:-,NOT_FOUND 3 66512934 . C . . NT END=66550613;NT GT ./. 3 66550756 rs1403625 G C 465 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=130;DB;DBA=NA;PAF=G/0.2802,C/0.7198;PC=1.000;Gene=LRIG1/NM_015541.2/1;CC=c.76C>G;ProtCh=p.L26V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:130:78:0:0:1,129:11,4047:0.10,465.43:0.00,192.93:0.10,272.50:0.00,1.00:0.00,1.00:0.00,1.00:60,60:173.0,69.1:0,0:0,0:32,85:119,61:0,38:NM_015541.2(LRIG1) c.76C>G (p.Leu26Val),NM_015541.2(LRIG1) c.76C>G (p.Leu26Val):0.76,0.76:0.814792,0.814792 3 66550762 rs1403626 G C 467 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=127;DB;DBA=NA;PAF=G/0.2802,C/0.7198;PC=0.829;Gene=LRIG1/NM_015541.2/1;CC=c.70C>G;ProtCh=p.L24V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:127:74:0:0:127:4071:467.45:186.38:281.07:1.00:1.00:1.00:60:70.0:0:0:88:59:36:NM_015541.2(LRIG1) c.70C>G (p.Leu24Val),NM_015541.2(LRIG1) c.70C>G (p.Leu24Val):0.76,0.76:0.811598,0.811598 3 66550832 . C . . NT END=67048779;NT GT ./. 3 66551076 rs9831355 G T 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.1635,T/0.8365 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:185:21.79:0.00:21.79:1.00:0.00:1.00:60:55.9:0:0:122:29:23:NM_015541.2(LRIG1) c.-14-u231C>A,NM_015541.2(LRIG1) c.-14-u231C>A:0.83,0.83:NOT_FOUND,NOT_FOUND 3 66577732 rs138672700 G GGGGT 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.05092,GGGGT/0.9491;NP=3;NP=353;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:GGGGT:3:4:4:0:3:119:9.75:9.75:0.00:0.85:0.85:0.00:60:35.7:1:0:108:43:12:chr3 g.66577732_66577733insGGGT (intergenic),chr3 g.66577732_66577733insGGGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 66577737 rs60882487 C T 13 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.05092,T/0.9491 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:107:12.60:12.60:0.00:1.00:1.00:0.00:60:26.8:0:0:116:34:13:chr3 g.66577736C>T (intergenic),chr3 g.66577736C>T (intergenic):0.91,0.91:NOT_FOUND,NOT_FOUND 3 67048796 . G . . NT END=67049404;NT GT ./. 3 67049616 . G . . NT END=67053618;NT GT ./. 3 67054734 . G . . NT END=67058345;NT GT ./. 3 67058329 . CT C 23 idl,rn VT=DEL;SST=Single;DP=35;NP=69;PC=0.001;Gene=KBTBD8/NM_032505.2/1;CC=c.1343-3delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:32:32:3:10:22,2,8:700,98,331:0.00,4.41,23.01:0.00,4.55,15.74:0.00,-0.14,7.27:0.00,0.00,0.98:0.00,0.00,1.00:0.00,0.00,0.93:60,60,60:18.7,28.0,12.9:0,1,2:0,0,0:74,22,48:76,105,95:24,2,23:-,NM_032505.2(KBTBD8) c.1343-16delT:-,NOT_FOUND:-,0.17332 3 67058810 . A . . NT END=67411052;NT GT ./. 3 67168077 rs56188622 CAG C 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CAG/0.5202,C/0.4798;DB;DBA=NA;PAF=CAG/0.5202,C/0.4798;DB;DBA=NA;PAF=CAG/0.5202,C/0.4798;NP=361;PC=0.006;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:CAG,C:4:1:0:3:1,3:34,102:0.00,10.65:0.00,3.65:0.00,7.00:0.00,0.85:0.00,0.83:0.00,0.99:60,60:117.0,36.7:0,0:0,0:143,54:8,68:0,34:-,chr3 g.67168078_67168079delAG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 67411193 . C . . NT END=67425140;NT GT ./. 3 67425023 rs4615095 T C 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.478,C/0.522;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-13831A>G;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:511:59.17:59.17:0.00:1.00:1.00:0.00:60:55.6:0:0:67:81:33:NM_001177599.1(SUCLG2) c.1184-13831A>G,NM_001177599.1(SUCLG2) c.1184-13831A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 3 67425085 . TA T 11 end,rn VT=DEL;SST=Single;DP=33;NP=1;PC=0.001;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-13894delT;VC=Intron;DM=SUCLG2/Ligase_CoA;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:87:TA,I,T:33:31:1:5:27,1,5:810,31,145:0.00,1.70,10.87:0.00,1.75,9.99:0.00,-0.05,0.88:0.00,0.00,0.79:0.00,0.00,0.98:0.00,0.00,0.60:60,60,60:29.2,0.0,11.8:0,0,0:0,0,0:57,20,8:94,131,143:31,0,2:-,NM_001177599.1(SUCLG2) c.1184-13894delT:-,NOT_FOUND:-,NOT_FOUND 3 67425253 rs71109884 G GA 255 idl,rn VT=INS;SST=Single;DP=96;DB;DBA=NA;PAF=G/0.4844,GA/0.5156;DB;DBA=NA;PAF=G/0.4844,GA/0.5156;NP=4;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-14062dupT;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.*914dupT;VC=3UTR;DM=SUCLG2/Ligase_CoA;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:90:68:83:0:13,77:397,2524:0.00,255.10:0.00,147.39:0.00,107.70:0.00,1.00:0.00,1.00:0.00,1.00:60,70:6.2,11.6:0,6:0,0:142,74:9,75:4,35:-,NM_001177599.1(SUCLG2) c.1184-14062_1184-14061insT:-,0.5:-,NOT_FOUND 3 67425727 rs4241438 A G 318 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=84;DB;DBA=NA;PAF=A/0.09804,C/.,G/0.902;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-14535T>C;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.*441T>C;VC=3UTR;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:84:50:0:0:84:2777:317.66:165.02:152.64:1.00:1.00:1.00:60:49.8:0:0:76:71:32:NM_001177599.1(SUCLG2) c.1184-14535T>C,NM_001177599.1(SUCLG2) c.1184-14535T>C:0.92,0.92:NOT_FOUND,NOT_FOUND 3 67425811 rs1065401 A C 327 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=91;DB;DBA=NA;PAF=NA;PC=0.003;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-14619T>G;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.*357T>G;VC=3UTR;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:91:60:0:0:91:2841:327.26:190.30:136.96:1.00:1.00:1.00:60:46.8:0:0:59:92:42:NM_001177599.1(SUCLG2) c.1184-14619T>G,NM_001177599.1(SUCLG2) c.1184-14619T>G:0.51,0.51:NOT_FOUND,NOT_FOUND 3 67425963 rs115560420 G T 208 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=130;DB;DBA=NA;PAF=G/0.9365,T/0.0635;PC=0.001;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-14771C>A;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.*205C>A;VC=3UTR;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:130:73:0:0:1,61,68:24,2050,2146:0.63,0.00,208.26:-0.10,0.00,92.60:0.73,0.00,115.67:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:54,60,60:137.0,32.9,66.7:0,0,0:0,0,0:10,83,67:141,65,82:0,36,38:-,NM_001177599.1(SUCLG2) c.1184-14771C>A:-,0.07:-,NOT_FOUND 3 67425983 rs1065400 C T 479 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.3181,T/0.6819;PC=0.002;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-14791G>A;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.*185G>A;VC=3UTR;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:128:74:0:0:128:4185:479.35:223.31:256.04:1.00:1.00:1.00:60:55.2:0:0:82:69:37:NM_001177599.1(SUCLG2) c.1184-14791G>A,NM_001177599.1(SUCLG2) c.1184-14791G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 3 67426125 rs1065399 C T 406 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.3185,T/0.6815;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-14933G>A;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.*43G>A;VC=3UTR;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:111:76:0:0:1,110:13,3540:0.18,405.92:0.18,238.93:0.00,166.99:0.00,1.00:0.00,1.00:0.00,1.00:40,60:141.0,46.7:0,1:0,0:144,60:6,89:0,36:NM_001177599.1(SUCLG2) c.1184-14933G>A,NM_001177599.1(SUCLG2) c.1184-14933G>A:0.68,0.68:0.679165,0.679165 3 67426281 rs35494829 T C 168 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=123;DB;DBA=NA;PAF=T/0.9381,C/0.0619;PC=1.000;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15089A>G;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1186A>G;ProtCh=p.T396A;VC=Missense;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:123:68:0:0:53,70:1794,2132:168.18,0.00:71.15,0.00:97.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,12.6:0,0:0,0:89,65:58,85:27,35:NM_001177599.1(SUCLG2) c.1184-15089A>G,-:0.07,-:0.097658,- 3 67426284 . C . . NT END=67426366;NT GT ./. 3 67426587 rs2171933 C T 544 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=152;DB;DBA=NA;PAF=C/0.3185,T/0.6815;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15395G>A;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1184-304G>A;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:152:96:0:0:152:4718:543.82:257.85:285.97:1.00:1.00:1.00:60:89.4:0:0:82:65:33:NM_001177599.1(SUCLG2) c.1184-15395G>A,NM_001177599.1(SUCLG2) c.1184-15395G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 3 67426598 rs386356008 A AC 478 PASS VT=INS;SST=Single;DP=150;DB;DBA=NA;PAF=A/0.3181,AC/0.6819;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.3181,AC/0.6819;NP=2;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15407dupG;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1184-316dupG;VC=Intron;DM=SUCLG2/Ligase_CoA;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,AC:150:90:137:0:13,137:379,4322:0.00,478.49:0.00,232.56:0.00,245.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:46.0,94.6:3,0:0,0:143,82:2,69:2,32:-,NM_001177599.1(SUCLG2) c.1184-15407_1184-15406insG:-,0.68:-,NOT_FOUND 3 67426600 rs2363712 T C 553 idl VT=SNV;PN=C;NN=T;SST=Single;DP=146;DB;DBA=NA;PAF=T/0.3185,C/0.6815;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15408A>G;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1184-317A>G;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:146:89:0:1:1,145:11,4847:0.09,553.35:0.09,253.49:0.00,299.86:0.00,1.00:0.00,1.00:0.00,1.00:60,60:155.0,95.9:1,142:0,0:103,76:48,74:0,33:NM_001177599.1(SUCLG2) c.1184-15408A>G,NM_001177599.1(SUCLG2) c.1184-15408A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 67426618 rs2171934 A G 548 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.3191,G/0.6809;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15426T>C;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1184-335T>C;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:156:95:0:0:156:4738:547.64:261.13:286.51:1.00:1.00:1.00:60:90.6:0:0:73:75:39:NM_001177599.1(SUCLG2) c.1184-15426T>C,NM_001177599.1(SUCLG2) c.1184-15426T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 3 67426755 rs9867496 A G 573 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=149;DB;DBA=NA;PAF=A/0.4774,G/0.5226;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15563T>C;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1184-472T>C;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:149:94:0:0:149:5016:572.53:252.66:319.87:1.00:1.00:1.00:60:48.0:0:0:79:69:31:NM_001177599.1(SUCLG2) c.1184-15563T>C,NM_001177599.1(SUCLG2) c.1184-15563T>C:0.51,0.51:NOT_FOUND,NOT_FOUND 3 67426866 rs12714460 A T 332 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.4778,T/0.5222;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15674T>A;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1184-583T>A;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:92:43:0:0:92:2885:332.28:106.14:226.14:1.00:1.00:1.00:60:67.9:0:0:97:48:37:NM_001177599.1(SUCLG2) c.1184-15674T>A,NM_001177599.1(SUCLG2) c.1184-15674T>A:0.51,0.51:NOT_FOUND,NOT_FOUND 3 67426911 rs9867659 A C 240 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.478,C/0.522;Gene=SUCLG2/NM_001177599.1/0;CC=c.1184-15719T>G;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1184-628T>G;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:C:64:23:0:0:64:2093:239.71:52.83:186.88:1.00:1.00:1.00:60:66.5:0:0:89:57:31:NM_001177599.1(SUCLG2) c.1184-15719T>G,NM_001177599.1(SUCLG2) c.1184-15719T>G:0.51,0.51:NOT_FOUND,NOT_FOUND 3 67426930 . C . . NT END=67451154;NT GT ./. 3 67451037 rs68010988 A G 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.7506,G/0.2494;Gene=SUCLG2/NM_001177599.1/0;CC=c.1183+118T>C;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1183+118T>C;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:43:43:0:0:23,19,1:720,527,11:0.00,49.13,0.02:0.00,47.62,0.03:0.00,1.51,-0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.84,0.00:60,60,60:8.9,36.5,118.0:0,0,0:0,0,0:40,22,74:111,129,77:30,19,0:-,NM_001177599.1(SUCLG2) c.1183+118T>C:-,0.23:-,NOT_FOUND 3 67451276 . C . . NT END=67458996;NT GT ./. 3 67459019 rs7645948 G C 172 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.1919,C/0.8081,T/.;Gene=SUCLG2/NM_001177599.1/0;CC=c.1063-7744C>G;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1063-7744C>G;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:129:C:47:41:0:0:47:1501:172.25:134.70:37.54:1.00:1.00:1.00:60:68.8:0:0:66:84:33:NM_001177599.1(SUCLG2) c.1063-7744C>G,NM_001177599.1(SUCLG2) c.1063-7744C>G:0.82,0.82:NOT_FOUND,NOT_FOUND 3 67459050 rs4320072 C T 238 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=C/0.1713,T/0.8287;PC=0.011;Gene=SUCLG2/NM_001177599.1/0;CC=c.1063-7775G>A;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1063-7775G>A;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:T:62:54:0:0:62:2085:238.01:180.70:57.30:1.00:1.00:1.00:60:60.1:0:0:58:91:37:NM_001177599.1(SUCLG2) c.1063-7775G>A,NM_001177599.1(SUCLG2) c.1063-7775G>A:0.84,0.84:NOT_FOUND,NOT_FOUND 3 67459459 . C . . NT END=67546221;NT GT ./. 3 67459492 rs9824745 G T 171 nt VT=SNV;PN=T;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.1673,T/0.8327;Gene=SUCLG2/NM_001177599.1/0;CC=c.1063-8217C>A;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1063-8217C>A;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:T:46:16:0:0:46:1488:170.73:37.37:133.36:1.00:1.00:1.00:60:40.4:0:0:107:41:16:NM_001177599.1(SUCLG2) c.1063-8217C>A,NM_001177599.1(SUCLG2) c.1063-8217C>A:0.84,0.84:NOT_FOUND,NOT_FOUND 3 67545926 rs28534617 G A 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.05551,A/0.9445;PC=0.001;Gene=SUCLG2/NM_001177599.1/0;CC=c.1062+296C>T;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1062+296C>T;VC=Intron;DM=SUCLG2/Ligase_CoA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:8:0:0:8:253:29.11:29.11:0.00:1.00:1.00:0.00:60:39.1:0:0:20:129:15:NM_001177599.1(SUCLG2) c.1062+296C>T,NM_001177599.1(SUCLG2) c.1062+296C>T:0.92,0.92:NOT_FOUND,NOT_FOUND 3 67546075 rs57812170 C CA 17 idl,rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6286,CA/0.3714,CAA/.;DB;DBA=NA;PAF=C/0.6286,CA/0.3714;NP=38;PC=0.010;Gene=SUCLG2/NM_001177599.1/0;CC=c.1062+146_1062+147insT;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.1062+146_1062+147insT;VC=Intron;DM=SUCLG2/Ligase_CoA;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:173:A,C,CA,D:16:18:8:1:1,8,6,1:7,234,252,34:0.01,0.00,17.40,2.43:0.01,0.00,17.40,2.43:0.00,0.00,0.00,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.94,0.00:0.00,0.00,0.00,0.00:36,60,60,60:96.0,27.0,30.7,0.0:0,1,2,0:0,0,0,0:110,63,70,70:17,87,80,81:0,30,36,0:-,NM_001177599.1(SUCLG2) c.1062+146_1062+147insT:-,NOT_FOUND:-,NOT_FOUND 3 67546365 . C . . NT END=67548557;NT GT ./. 3 67548720 . C . . NT END=67559230;NT GT ./. 3 67548852 rs7630024 G A 89 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.5319,A/0.4681;Gene=SUCLG2/NM_001177599.1/0;CC=c.758-133C>T;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.758-133C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:0:0:0:23:779:88.87:0.00:88.87:1.00:0.00:1.00:60:36.8:0:0:96:53:30:NM_001177599.1(SUCLG2) c.758-133C>T,NM_001177599.1(SUCLG2) c.758-133C>T:0.48,0.48:NOT_FOUND,NOT_FOUND 3 67559216 rs375093108 CT C 18 idl,rn VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=NA;NP=74;Gene=SUCLG2/NM_001177599.1/0;CC=c.757+14delA;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.757+14delA;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:169:CT,I,C:36:34:2:9:28,1,7:909,54,289:0.00,0.99,18.02:0.00,-0.23,12.89:0.00,1.22,5.13:0.00,0.00,0.94:0.00,0.00,0.99:0.00,0.00,0.92:60,60,60:19.5,54.0,9.9:0,1,2:0,0,0:48,59,34:102,91,117:23,34,16:-,NM_001177599.1(SUCLG2) c.757+14delA:-,NOT_FOUND:-,NOT_FOUND 3 67559328 . C . . NT END=67568670;NT GT ./. 3 67568761 . C . . NT END=67570905;NT GT ./. 3 67571059 . C . . NT END=67578555;NT GT ./. 3 67578647 . C . . NT END=67579510;NT GT ./. 3 67579611 . C . . NT END=67659878;NT GT ./. 3 67579688 rs114306553 T C 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1;NP=34;Gene=SUCLG2/NM_001177599.1/0;CC=c.227-78A>G;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.227-78A>G;VC=Intron;DM=SUCLG2/ATP-grasp_2;DM=SUCLG2/ATP-grasp_2;DM=SUCLG2/ATP-grasp_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:3:0:0:14,8:377,226:38.00,0.00:5.74,0.00:32.26,0.00:1.00,0.00:0.96,0.00:1.00,0.00:60,60:35.3,23.9:0,0:0,0:100,89:48,61:28,20:NM_001177599.1(SUCLG2) c.227-78A>G,-:0.0032,-:NOT_FOUND,- 3 67660021 . C . . NT END=67704926;NT GT ./. 3 67693342 rs59741741 C CTG 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.8992,G/0.1008;NP=103;NP=15;NP=5;Gene=SUCLG2/NM_001177599.1/0;CC=c.84+11584_84+11585insCA;VC=Intron;Gene=SUCLG2/NM_003848.3/1;CC=c.84+11584_84+11585insCA;VC=Intron;DM=SUCLG2/ATP-grasp_2;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,CTG:5:5:4:0:1,4:35,134:0.00,14.22:0.00,6.76:0.00,7.46:0.00,0.96:0.00,0.96:0.00,1.00:60,60:0.0,2.8:0,0:0,0:98,68:53,76:0,16:-,NM_001177599.1(SUCLG2) c.84+11584_84+11585insCA:-,NOT_FOUND:-,NOT_FOUND 3 67705011 . C . . NT END=68055769;NT GT ./. 3 67946474 rs1447773 G C 10 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.3189,C/0.6811;Gene=SUCLG2-AS1/NR_109992.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,G:5:4:0:0:3,2:98,68:9.77,0.00:8.39,0.00:1.38,0.00:0.78,0.00:0.97,0.00:0.87,0.00:60,60:129.7,0.0:0,0:0,0:27,55:85,87:0,9:chr3 g.67946473G>C (intergenic),-:0.71,-:NOT_FOUND,- 3 67946503 rs4856906 A G,AAGAGAG 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1849,G/0.8151 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:64:G,AAGAGAG:5:4:2:0:3,2:107,66:11.46,6.76:7.66,3.38:3.80,3.38:0.78,0.00:0.97,0.00:0.94,0.00:60,60:132.3,0.0:0,0:0,0:71,84:63,58:11,9:chr3 g.67946502A>G (intergenic),chr3 g.67946503_67946504insAGAGAG (intergenic):0.76,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 67947455 . TGTGTGTGGGGGGGGGGG T 6 nt VT=DEL;SST=Single;DP=4;PC=0.073;Gene=SUCLG2-AS1/NR_109992.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:TGTGTGTGGGGGGGGGGG,T:4:4:0:2:2,2:67,66:0.00,6.35:0.00,4.71:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,70:58.0,0.0:0,0:0,0:72,30:61,121:25,13:-,chr3 g.67947456_67947472delGTGTGTGGGGGGGGGGG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 68038528 rs34062143 A ATG 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=1;NP=2;PC=0.009;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,ATG,D:6:5:3:1:2,3,1:65,95,24:0.00,9.43,1.94:0.00,4.91,2.02:0.00,4.51,-0.08:0.00,0.73,0.00:0.00,0.96,0.00:0.00,0.51,0.00:60,60,60:9.5,11.0,147.0:0,0,0:0,0,0:53,41,27:60,109,116:17,2,0:-,NM_001252216.1(FAM19A1) c.-216-u2206_-216-u2205insTG:-,NOT_FOUND:-,NOT_FOUND 3 68055888 . G . . NT END=68466429;NT GT ./. 3 68194293 rs1595493 G A 51 nt VT=SNV;PN=C;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.03654,A/0.9635;PC=0.091;Gene=FAM19A1/NM_001252216.1/0;CC=c.118+138406G>A;VC=Intron;Gene=FAM19A1/NM_213609.3/1;CC=c.118+138406G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:5:0:0:14:444:51.02:13.17:37.85:1.00:1.00:1.00:60:46.1:0:0:121:29:14:NM_213609.3(FAM19A1) c.118+138406G>A,NM_213609.3(FAM19A1) c.118+138406G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 68320984 rs201732630 T TCA 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=62;Gene=FAM19A1/NM_001252216.1/0;CC=c.119-145445_119-145444insAC;VC=Intron;Gene=FAM19A1/NM_213609.3/1;CC=c.119-145445_119-145444insAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:T,TCA:4:4:2:0:2,2:68,69:0.00,6.65:0.00,4.96:0.00,1.69:0.00,0.51:0.00,0.51:0.00,0.79:60,60:30.0,40.5:0,0:0,0:93,92:57,59:46,7:-,NM_213609.3(FAM19A1) c.119-145446_119-145445insCA:-,NOT_FOUND:-,NOT_FOUND 3 68320986 rs75689921 T A 7 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.6867,A/0.3133;NP=2;NP=2;NP=2;NP=43;NP=6;Gene=FAM19A1/NM_001252216.1/0;CC=c.119-145444T>A;VC=Intron;Gene=FAM19A1/NM_213609.3/1;CC=c.119-145444T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,T:4:4:0:0:2,2:70,71:6.75,0.00:5.06,0.00:1.69,0.00:0.51,0.00:0.51,0.00:0.79,0.00:60,60:40.5,30.0:2,0:0,0:96,95:55,55:7,46:NM_213609.3(FAM19A1) c.119-145444T>A,-:NOT_FOUND,-:NOT_FOUND,- 3 68466571 . G . . NT END=68587906;NT GT ./. 3 68588032 . G . . NT END=68593636;NT GT ./. 3 68593655 . C . . NT END=68782292;NT GT ./. 3 68593852 rs11717918 A G 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8145,G/0.1855;PC=1.000;Gene=FAM19A1/NM_001252216.1/0;CC=c.*198A>G;VC=3UTR;Gene=FAM19A1/NM_213609.3/1;CC=c.*198A>G;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:A,G:8:0:0:0:5,3:142,103:0.00,9.44:0.00,0.00:0.00,9.44:0.00,0.67:0.00,0.00:0.00,0.67:60,60:13.6,34.3:0,0:0,0:115,70:36,81:29,6:-,NM_213609.3(FAM19A1) c.*198A>G:-,0.17:-,NOT_FOUND 3 68686222 rs3860535 G A 102 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.1889,A/0.8111 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:A:31:5:0:0:31:872:101.69:14.51:87.18:1.00:1.00:1.00:40:49.9:0:0:100:48:33:chr3 g.68686221G>A (intergenic),chr3 g.68686221G>A (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 3 68782213 rs6549143 A G 163 nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.3045,G/0.6955;Gene=FAM19A4/NM_001005527.2/0;CC=c.*80T>C;VC=3UTR;Gene=FAM19A4/NM_182522.4/1;CC=c.*80T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:121:G:44:41:0:0:44:1422:163.08:117.69:45.39:1.00:1.00:1.00:60:45.0:0:0:45:104:24:NM_182522.4(FAM19A4) c.*80T>C,NM_182522.4(FAM19A4) c.*80T>C:0.67,0.67:0.598993,0.598993 3 68782305 . C . . NT END=68788225;NT GT ./. 3 68787954 rs7626497 C T 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.3147,T/0.6853;PC=0.019;Gene=FAM19A4/NM_001005527.2/0;CC=c.411+272G>A;VC=Intron;Gene=FAM19A4/NM_182522.4/1;CC=c.411+272G>A;VC=Intron;DM=FAM19A4/TAFA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:125:14.41:14.41:0.00:1.00:1.00:0.00:60:39.5:0:0:26:125:12:NM_182522.4(FAM19A4) c.411+272G>A,NM_182522.4(FAM19A4) c.411+272G>A:0.67,0.67:NOT_FOUND,NOT_FOUND 3 68788351 . C . . NT END=68802013;NT GT ./. 3 68788363 rs1504301 G T 236 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=G/0.3207,T/0.6793;PC=0.219;Gene=FAM19A4/NM_001005527.2/0;CC=c.287-13C>A;VC=Intron;Gene=FAM19A4/NM_182522.4/1;CC=c.287-13C>A;VC=Intron;DM=FAM19A4/TAFA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:T:63:33:0:0:63:2059:235.93:80.01:155.92:1.00:1.00:1.00:60:44.9:0:0:101:46:22:NM_182522.4(FAM19A4) c.287-13C>A,NM_182522.4(FAM19A4) c.287-13C>A:0.66,0.66:0.5672,0.5672 3 68788465 rs1504300 G T 99 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.256,T/0.744;Gene=FAM19A4/NM_001005527.2/0;CC=c.287-115C>A;VC=Intron;Gene=FAM19A4/NM_182522.4/1;CC=c.287-115C>A;VC=Intron;DM=FAM19A4/TAFA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:2:0:0:26:869:99.30:3.78:95.52:1.00:1.00:1.00:60:51.8:0:0:74:75:44:NM_182522.4(FAM19A4) c.287-115C>A,NM_182522.4(FAM19A4) c.287-115C>A:0.72,0.72:NOT_FOUND,NOT_FOUND 3 68801921 rs9835691 T C 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.7688,C/0.2312;Gene=FAM19A4/NM_001005527.2/0;CC=c.286+93A>G;VC=Intron;Gene=FAM19A4/NM_182522.4/1;CC=c.286+93A>G;VC=Intron;DM=FAM19A4/TAFA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:39:0:0:16,24:561,735:52.05,0.00:50.70,0.00:1.35,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,60:37.9,8.8:0,0:0,0:31,40:119,110:23,28:NM_182522.4(FAM19A4) c.286+93A>G,-:0.24,-:NOT_FOUND,- 3 68802170 . C . . NT END=68929880;NT GT ./. 3 68929997 . C . . NT END=68934325;NT GT ./. 3 68934340 . A . . NT END=69026768;NT GT ./. 3 68934477 . CA C 8 rn VT=DEL;SST=Single;DP=10;NP=25;PC=0.004;Gene=FAM19A4/NM_001005527.2/0;CC=c.-122-17delT;VC=Intron;Gene=FAM19A4/NM_182522.4/1;CC=c.-122-17delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:CA,I,C:10:0:1:3:6,1,3:176,33,87:0.00,2.50,7.64:0.00,0.00,0.00:0.00,2.50,7.64:0.00,0.00,0.62:0.00,0.00,0.00:0.00,0.00,0.62:60,60,60:32.0,0.0,17.0:0,0,0:0,0,0:119,92,120:31,59,31:9,0,4:-,NM_182522.4(FAM19A4) c.-122-17delT:-,NOT_FOUND:-,NOT_FOUND 3 69026778 rs140481649 A C 75 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=5;PC=1.000;Gene=EOGT/NM_001278689.1/1;CC=c.1575T>G;ProtCh=p.D525E;VC=Missense;Gene=EOGT/NM_173654.2/0;CC=c.1323T>G;ProtCh=p.D441E;VC=Missense;Gene=EOGT/NR_103826.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:73:64:0:0:46,27:1463,826:0.00,74.58:0.00,54.23:0.00,20.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.0,44.8:0,0:0,0:59,59:90,90:35,24:-,NM_173654.1(EOGT) c.1323T>G (p.Asp441Glu):-,0.0005:-,0.001 3 69026916 . C . . NT END=69027483;NT GT ./. 3 69027587 . C . . NT END=69028818;NT GT ./. 3 69028762 rs142852479 GCA G 66 nt VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=GCA/0.9806,G/0.01937;NP=227;Gene=EOGT/NM_001278689.1/1;CC=c.1334+55_1334+56delTG;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.1082+55_1082+56delTG;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;DM=EOGT/DUF563;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GCA,G:41:34:0:22:19,22:633,674:0.00,65.60:0.00,42.78:0.00,22.81:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,11.5:0,0:0,0:52,54:98,89:23,23:-,NM_173654.1(EOGT) c.1082+55_1082+56delTG:-,0.02:-,NOT_FOUND 3 69028939 . C . . NT END=69031961;NT GT ./. 3 69032024 . C . . NT END=69036595;NT GT ./. 3 69036524 rs568513385 G GA 8 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;PC=0.207;Gene=EOGT/NM_001278689.1/1;CC=c.1152+71dupT;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.900+71dupT;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;DM=EOGT/DUF563;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:G,GA:20:20:3:0:17,3:551,101:0.00,7.86:0.00,7.86:0.00,0.00:0.00,0.50:0.00,0.50:0.00,0.00:60,60:6.3,0.0:0,0:0,0:53,87:98,63:33,33:-,NM_173654.1(EOGT) c.900+71_900+72insT:-,NOT_FOUND:-,NOT_FOUND 3 69036665 . C . . NT END=69037445;NT GT ./. 3 69036707 rs4855542 G A 107 nt VT=SNV;PN=T;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.6394,A/0.3606,C/.;Gene=EOGT/NM_001278689.1/1;CC=c.1084-43C>T;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.832-43C>T;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;DM=EOGT/DUF563 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:A:28:10:0:0:28:935:106.85:24.35:82.50:1.00:1.00:1.00:60:35.2:0:0:72:79:37:NM_173654.1(EOGT) c.832-43C>T,NM_173654.1(EOGT) c.832-43C>T:0.38,0.38:0.491927,0.491927 3 69037262 rs6549163 T C 22 sb,nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.2097,C/0.7903;Gene=EOGT/NM_001278689.1/1;CC=c.1083+184A>G;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.832-598A>G;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;DM=EOGT/DUF563 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:196:22.46:20.47:1.99:1.00:1.00:1.00:60:44.5:0:0:35:115:31:NM_173654.1(EOGT) c.832-598A>G,NM_173654.1(EOGT) c.832-598A>G:0.78,0.78:NOT_FOUND,NOT_FOUND 3 69037533 . C . . NT END=69037656;NT GT ./. 3 69037633 rs9310136 G C 131 nt VT=SNV;PN=T;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6775,C/0.3225;Gene=EOGT/NM_001278689.1/1;CC=c.996+24C>G;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.832-969C>G;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;DM=EOGT/DUF563 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:97:C:36:20:0:0:36:1135:130.59:59.33:71.27:1.00:1.00:1.00:60:33.2:0:0:60:88:25:NM_173654.1(EOGT) c.832-969C>G,NM_173654.1(EOGT) c.832-969C>G:0.33,0.33:NOT_FOUND,NOT_FOUND 3 69037729 . C . . NT END=69038075;NT GT ./. 3 69038169 . C . . NT END=69047161;NT GT ./. 3 69038217 rs4855543 A G 59 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.648,G/0.352;Gene=EOGT/NM_001278689.1/1;CC=c.832-49T>C;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.832-1553T>C;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;DM=EOGT/DUF563 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:9:0:0:16:518:59.43:21.26:38.17:1.00:1.00:1.00:60:36.8:0:0:93:57:36:NM_173654.1(EOGT) c.832-1553T>C,NM_173654.1(EOGT) c.832-1553T>C:0.36,0.36:NOT_FOUND,NOT_FOUND 3 69047266 . C . . NT END=69050758;NT GT ./. 3 69050866 . C . . NT END=69053528;NT GT ./. 3 69051080 rs9873272 A C 16 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2151,C/0.7849;Gene=EOGT/NM_001278689.1/1;CC=c.621-215T>G;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.621-215T>G;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:142:16.11:0.00:16.11:1.00:0.00:1.00:60:35.5:0:0:96:54:28:NM_173654.1(EOGT) c.621-215T>G,NM_173654.1(EOGT) c.621-215T>G:0.77,0.77:NOT_FOUND,NOT_FOUND 3 69053447 rs9860095 A T 35 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.6492,T/0.3508;PC=0.943;Gene=EOGT/NM_001278689.1/1;CC=c.620+82T>A;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.620+82T>A;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:26:26:0:0:14,12:433,373:0.00,35.21:0.00,31.83:0.00,3.37:0.00,1.00:0.00,1.00:0.00,0.92:60,60:15.9,38.1:0,0:0,0:60,48:91,102:49,27:-,NM_173654.1(EOGT) c.620+82T>A:-,0.37:-,NOT_FOUND 3 69053634 . C . . NT END=69054290;NT GT ./. 3 69054212 rs556578359 CA C 9 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=72;Gene=EOGT/NM_001278689.1/1;CC=c.515+78delT;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.515+78delT;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CA,C:7:10:0:7:4,3:132,196:0.00,8.74:0.00,8.74:0.00,0.00:0.00,0.62:0.00,0.62:0.00,0.00:60,60:33.5,37.7:0,3:0,0:64,104:86,46:29,21:-,NM_173654.1(EOGT) c.515+78delT:-,NOT_FOUND:-,NOT_FOUND 3 69054266 rs11417320 A AT 26 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6036,AT/0.3964;NP=1715;PC=0.001;Gene=EOGT/NM_001278689.1/1;CC=c.515+24dupA;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.515+24dupA;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:18:16:10:0:8,10:255,262:0.00,25.57:0.00,20.92:0.00,4.65:0.00,1.00:0.00,1.00:0.00,0.96:60,60:5.5,57.7:0,0:0,0:38,36:111,113:21,20:-,NM_173654.1(EOGT) c.515+24_515+25insA:-,0.36:-,0.302653 3 69054341 rs6781612 T C 46 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.617,C/0.383;PC=1.000;Gene=EOGT/NM_001278689.1/1;CC=c.465A>G;ProtCh=p.R155=;VC=Silent;Gene=EOGT/NM_173654.2/0;CC=c.465A>G;ProtCh=p.R155=;VC=Silent;Gene=EOGT/NR_103826.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:23:0:0:17,16:481,540:46.21,0.00:27.51,0.00:18.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,3.5:0,0:0,0:65,71:85,78:31,47:NM_173654.1(EOGT) c.=,-:0.36,-:0.287098,- 3 69054386 . C . . NT END=69056863;NT GT ./. 3 69056662 rs553195870 G GGGGGGGGC 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9978,GAGGGGGGC/0.002196,GGGGGGGC/.,GGGGGGGGC/.;NP=1;NP=2;Gene=EOGT/NM_001278689.1/1;CC=c.420+201_420+202insGCCCCCCC;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.420+201_420+202insGCCCCCCC;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,GGGGGGGGC:4:4:2:0:2,2:67,66:0.00,6.35:0.00,6.35:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:17.5,17.0:0,0:0,0:127,61:6,88:6,29:-,NM_173654.1(EOGT) c.420+201_420+202insGCCCCCCC:-,NOT_FOUND:-,NOT_FOUND 3 69056973 . C . . NT END=69057578;NT GT ./. 3 69057680 . C . . NT END=69058787;NT GT ./. 3 69058783 rs56761230 C T 54 nt VT=SNV;PN=A;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.6687,T/0.3313;PC=0.567;Gene=EOGT/NM_001278689.1/1;CC=c.210+5G>A;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.210+5G>A;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:27:0:0:14,17:464,552:0.00,54.02:0.00,38.55:0.00,15.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.4,33.8:0,0:0,0:40,33:108,116:21,15:-,NM_173654.1(EOGT) c.210+5G>A:-,0.32:-,0.248193 3 69059012 . C . . NT END=69072327;NT GT ./. 3 69059081 rs375518476 CAACAA C 7 idl,nt VT=DEL;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.005;Gene=EOGT/NM_001278689.1/1;CC=c.-14-75_-14-71delTTGTT;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.-14-75_-14-71delTTGTT;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:CAACAA,C:15:4:0:5:12,3:323,137:0.00,7.06:0.00,-0.25:0.00,7.32:0.00,0.53:0.00,0.55:0.00,0.90:60,60:52.8,130.7:3,2:0,0:119,75:32,74:26,33:-,NM_173654.1(EOGT) c.-14-75_-14-71delTTGTT:-,NOT_FOUND:-,NOT_FOUND 3 69059087 rs6549171 A C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=300;PC=0.004;Gene=EOGT/NM_001278689.1/1;CC=c.-14-76T>G;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.-14-76T>G;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C:12:1:0:2:7,5:234,156:0.00,14.45:0.00,1.65:0.00,12.80:0.00,0.92:0.00,0.61:0.00,0.92:60,60:73.3,45.8:6,0:0,0:43,130:107,21:33,14:-,NM_173654.1(EOGT) c.-14-76T>G:-,NOT_FOUND:-,NOT_FOUND 3 69059101 rs73835394 C A 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=140;Gene=EOGT/NM_001278689.1/1;CC=c.-14-90G>T;VC=Intron;Gene=EOGT/NM_173654.2/0;CC=c.-14-90G>T;VC=Intron;Gene=EOGT/NR_103826.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:12:1:0:0:6,6:196,209:18.85,0.00:-0.15,0.00:19.00,0.00:1.00,0.00:0.67,0.00:1.00,0.00:60,60:70.5,36.3:0,0:0,0:73,97:76,53:32,40:NM_173654.1(EOGT) c.-14-90G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 69065432 rs71112684 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.068 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:A,G:5:5:0:0:2,3:61,108:0.00,10.77:0.00,8.84:0.00,1.93:0.00,0.78:0.00,0.78:0.00,0.73:60,60:52.0,47.7:0,0:0,0:53,86:65,59:32,6:-,NM_173654.1(EOGT) c.-405-u2658T>C:-,NOT_FOUND:-,NOT_FOUND 3 69072472 . C . . NT END=69073205;NT GT ./. 3 69073332 . C . . NT END=69074710;NT GT ./. 3 69073410 rs3772976 G A 81 nt VT=SNV;PN=T;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.7286,A/0.2714;PC=0.264;Gene=TMF1/NM_007114.2/1;CC=c.3013-79C>T;VC=Intron;DM=TMF1/TMF_TATA_bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:15:0:0:27,15:799,448:80.84,0.00:16.32,0.00:64.52,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,16.3:0,0:0,0:114,122:30,24:24,10:NM_007114.2(TMF1) c.3013-79C>T,-:0.26,-:NOT_FOUND,- 3 69073419 rs201235194 GTT G 31 idl,rn VT=DEL;SST=Single;DP=35;DB;DBA=NA;PAF=NA;NP=21;Gene=TMF1/NM_007114.2/1;CC=c.3013-90_3013-89delAA;VC=Intron;DM=TMF1/TMF_TATA_bd;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GTT,I,G:30:10:2:16:18,1,11:539,61,452:0.00,1.91,31.48:0.00,-0.06,4.06:0.00,1.98,27.43:0.00,0.00,1.00:0.00,0.00,0.96:0.00,0.00,1.00:60,60,60:28.6,77.0,52.2:0,1,4:0,0,0:139,126,85:12,24,66:7,4,40:-,NM_007114.2(TMF1) c.3013-90_3013-89delAA:-,NOT_FOUND:-,NOT_FOUND 3 69073569 rs3836333 ATTAT A 8 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=ATTAT/0.7087,A/0.2913;DB;DBA=NA;PAF=ATTAT/0.7087,A/0.2913;NP=65;Gene=TMF1/NM_007114.2/1;CC=c.3013-242_3013-239delATAA;VC=Intron;DM=TMF1/TMF_TATA_bd;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:ATTAT,A:6:0:0:3:3,3:93,87:0.00,8.32:0.00,0.00:0.00,8.32:0.00,0.73:0.00,0.00:0.00,0.73:60,60:0.0,30.3:0,0:0,0:142,112:8,36:7,2:-,NM_007114.2(TMF1) c.3013-242_3013-239delATAA:-,0.27:-,NOT_FOUND 3 69074864 . C . . NT END=69075146;NT GT ./. 3 69075249 . C . . NT END=69077050;NT GT ./. 3 69077144 . C . . NT END=69077376;NT GT ./. 3 69077447 . C . . NT END=69078965;NT GT ./. 3 69079159 . C . . NT END=69082698;NT GT ./. 3 69082657 rs937859 T C 156 nt VT=SNV;PN=A;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.6873,C/0.3127;Gene=TMF1/NM_007114.2/1;CC=c.2401+42A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:C:42:40:0:0:42:1362:156.06:127.18:28.88:1.00:1.00:1.00:60:42.1:0:0:68:83:35:NM_007114.2(TMF1) c.2401+42A>G,NM_007114.2(TMF1) c.2401+42A>G:0.31,0.31:0.301682,0.301682 3 69082856 . C . . NT END=69084173;NT GT ./. 3 69082873 rs937858 G T 112 nt VT=SNV;PN=T;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.7047,T/0.2953;PC=0.032;Gene=TMF1/NM_007114.2/1;CC=c.2245-18C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:59:30:0:0:23,36:706,1118:0.00,111.81:0.00,49.49:0.00,62.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,36.8:0,0:0,0:73,101:69,42:22,30:-,NM_007114.2(TMF1) c.2245-18C>A:-,0.28:-,0.237726 3 69084062 rs2055685 G C 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=TMF1/NM_007114.2/1;CC=c.2244+112C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:21:21:0:0:13,8:439,235:44.06,0.00:44.06,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:62.0,1.4:0,0:0,0:70,59:81,92:52,18:NM_007114.2(TMF1) c.2244+112C>G,-:0.32,-:NOT_FOUND,- 3 69084161 rs2271121 C A 95 nt VT=SNV;PN=A;NN=C;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.6631,A/0.3369;PC=0.001;Gene=TMF1/NM_007114.2/1;CC=c.2244+13G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:55:47:0:0:30,25:972,822:95.05,0.00:77.73,0.00:17.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.8,8.8:0,0:0,0:46,41:103,107:29,26:NM_007114.2(TMF1) c.2244+13G>T,-:0.32,-:0.252872,- 3 69084267 . C . . NT END=69087714;NT GT ./. 3 69084434 rs2271122 T C 61 nt VT=SNV;PN=C;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.2606,A/.,C/0.7394;Gene=TMF1/NM_007114.2/1;CC=c.2152-168A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:C:16:0:0:0:16:536:61.20:0.00:61.20:1.00:0.00:1.00:60:43.6:0:0:103:47:21:NM_007114.2(TMF1) c.2152-168A>G,NM_007114.2(TMF1) c.2152-168A>G:0.73,0.73:NOT_FOUND,NOT_FOUND 3 69087872 . C . . NT END=69087993;NT GT ./. 3 69088161 . C . . NT END=69088701;NT GT ./. 3 69088845 . C . . NT END=69091957;NT GT ./. 3 69088918 rs146136734 T TC 150 nt VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;NP=1693;PC=0.002;Gene=TMF1/NM_007114.2/1;CC=c.1685-75_1685-74insG;VC=Intron;DM=TMF1/TMF_DNA_bd;DM=TMF1/TMF_DNA_bd;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T,TC:43:13:42:0:1,42:31,1321:0.00,150.03:0.00,31.92:0.00,118.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,30.5:0,0:0,0:148,100:1,44:0,28:NM_007114.2(TMF1) c.1685-75_1685-74insG,NM_007114.2(TMF1) c.1685-75_1685-74insG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 69088944 rs67036817 T C 111 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.643,C/0.357;PC=0.016;Gene=TMF1/NM_007114.2/1;CC=c.1685-100A>G;VC=Intron;DM=TMF1/TMF_DNA_bd;DM=TMF1/TMF_DNA_bd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:C:30:6:0:0:30:965:110.71:15.43:95.28:1.00:1.00:1.00:60:41.1:0:0:115:34:23:NM_007114.2(TMF1) c.1685-100A>G,NM_007114.2(TMF1) c.1685-100A>G:0.36,0.36:NOT_FOUND,NOT_FOUND 3 69092064 . C . . NT END=69092900;NT GT ./. 3 69093028 . C . . NT END=69093642;NT GT ./. 3 69093598 rs2271118 T C 78 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.2033,C/0.7967;Gene=TMF1/NM_007114.2/1;CC=c.1451+45A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:19:0:0:21:685:78.43:67.05:11.38:1.00:1.00:1.00:60:39.0:0:0:37:114:24:NM_007114.2(TMF1) c.1451+45A>G,NM_007114.2(TMF1) c.1451+45A>G:0.78,0.78:0.835328,0.835328 3 69093747 . C . . NT END=69096499;NT GT ./. 3 69093997 rs1463957 T C 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6212,C/0.3788;PC=0.051;Gene=TMF1/NM_007114.2/1;CC=c.1348-251A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:187:21.56:0.00:21.56:1.00:0.00:1.00:60:52.8:0:0:95:56:33:NM_007114.2(TMF1) c.1348-251A>G,NM_007114.2(TMF1) c.1348-251A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 3 69096614 rs2292199 G A 371 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=99;DB;DBA=NA;PAF=G/0.2272,A/0.7728,C/.,T/.;Gene=TMF1/NM_007114.2/1;CC=c.1242C>T;ProtCh=p.S414=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:99:67:0:0:99:3244:371.43:190.98:180.45:1.00:1.00:1.00:60:37.0:0:0:67:82:38:NM_007114.2(TMF1) c.1242C>T (p.(=)),NM_007114.2(TMF1) c.1242C>T (p.(=)):0.77,0.77:0.811675,0.811675 3 69097714 . C . . NT END=69101095;NT GT ./. 3 69100890 rs34175383 G A 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.6691,A/0.3309;Gene=TMF1/NM_007114.2/1;CC=c.142+206C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:A,G:12:12:0:0:3,9:92,260:7.71,0.00:7.71,0.00:0.00,0.00:0.94,0.00:0.94,0.00:0.00,0.00:60,60:43.3,10.8:0,0:0,0:31,85:119,66:30,39:NM_007114.2(TMF1) c.142+206C>T,-:0.34,-:NOT_FOUND,- 3 69101238 . C . . NT END=69104587;NT GT ./. 3 69104677 . C . . NT END=69105001;NT GT ./. 3 69104695 rs6549179 T A 144 nt VT=SNV;PN=T;NN=A;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.04573,A/0.9543,G/.;PC=0.042;Gene=UBA3/NM_003968.3/1;CC=c.1304-19A>T;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.1262-19A>T;VC=Intron;DM=UBA3/E2_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:96:A,G:41:20:0:0:40,1:1253,16:143.80,0.58:49.34,0.00:94.46,0.58:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,16.0:0,0:0,0:98,120:50,18:20,0:NM_003968.3(UBA3) c.1304-19A>T,NM_003968.3(UBA3) c.1304-19A>T:0.96,0.96:0.973992,0.973992 3 69104752 rs6549180 C T 92 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=C/0.04573,T/0.9543;Gene=UBA3/NM_003968.3/1;CC=c.1304-76G>A;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.1262-76G>A;VC=Intron;DM=UBA3/E2_bind GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:T:26:10:0:0:26:801:92.45:31.45:61.00:1.00:1.00:1.00:60:65.7:0:0:107:43:35:NM_003968.3(UBA3) c.1304-76G>A,NM_003968.3(UBA3) c.1304-76G>A:0.96,0.96:NOT_FOUND,NOT_FOUND 3 69105057 . C . . NT END=69105150;NT GT ./. 3 69105215 . C . . NT END=69105333;NT GT ./. 3 69105435 . C . . NT END=69105762;NT GT ./. 3 69105845 . C . . NT END=69105929;NT GT ./. 3 69105967 . C . . NT END=69106406;NT GT ./. 3 69106119 rs35361133 A AT 56 nt VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6524,AT/0.3476;NP=1147;PC=0.078;Gene=UBA3/NM_003968.3/1;CC=c.965-154dupA;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.923-154dupA;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:15:A,AT:18:6:17:0:1,17:29,496:0.00,56.02:0.00,18.70:0.00,37.32:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,39.4:0,0:0,0:150,81:1,70:0,47:NM_003968.3(UBA3) c.965-154_965-153insA,NM_003968.3(UBA3) c.965-154_965-153insA:0.33,0.33:NOT_FOUND,NOT_FOUND 3 69106187 rs1866262 G A 33 nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.6799,A/0.3201;Gene=UBA3/NM_003968.3/1;CC=c.964+220C>T;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.922+220C>T;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A:11:6:0:0:11:277:32.82:19.31:13.51:1.00:1.00:1.00:60:60.0:0:0:103:47:20:NM_003968.3(UBA3) c.964+220C>T,NM_003968.3(UBA3) c.964+220C>T:0.32,0.32:NOT_FOUND,NOT_FOUND 3 69106304 rs1866264 C T 74 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6975,T/0.3025;Gene=UBA3/NM_003968.3/1;CC=c.964+103G>A;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.922+103G>A;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:18:0:0:20:647:74.22:61.28:12.93:1.00:1.00:1.00:60:75.2:0:0:61:90:30:NM_003968.3(UBA3) c.964+103G>A,NM_003968.3(UBA3) c.964+103G>A:0.27,0.27:NOT_FOUND,NOT_FOUND 3 69106305 rs1866265 C G 79 nt VT=SNV;PN=C;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6607,G/0.3393;Gene=UBA3/NM_003968.3/1;CC=c.964+102G>C;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.922+102G>C;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:G:20:18:0:0:20:698:79.34:63.18:16.16:1.00:1.00:1.00:60:72.1:0:0:62:89:30:NM_003968.3(UBA3) c.964+102G>C,NM_003968.3(UBA3) c.964+102G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 3 69106461 . C . . NT END=69110964;NT GT ./. 3 69111079 . C . . NT END=69111227;NT GT ./. 3 69111097 rs368575813 GGAGA G 7 idl,nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=3;Gene=UBA3/NM_003968.3/1;CC=c.797-23_797-20delTCTC;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.755-23_755-20delTCTC;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:A,GGAGA,T,G:26:20:0:5:1,21,1,3:12,627,9,153:0.08,0.00,-0.10,6.99:-0.20,0.00,0.04,4.95:0.27,0.00,-0.14,2.04:0.00,0.00,0.00,0.44:0.00,0.00,0.00,0.81:0.00,0.00,0.00,0.72:60,60,60,60:12.0,25.0,123.0,62.7:0,0,0,2:0,0,0,0:34,77,113,42:106,74,37,105:0,52,0,11:-,NM_003968.3(UBA3) c.797-23_797-20delTCTC:-,NOT_FOUND:-,NOT_FOUND 3 69111331 . C . . NT END=69112132;NT GT ./. 3 69111488 rs6800465 A T 13 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3932,T/0.6068;Gene=UBA3/NM_003968.3/1;CC=c.694-158T>A;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.652-158T>A;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,T:6:0:0:0:2,4:63,130:0.00,13.25:0.00,0.00:0.00,13.25:0.00,0.93:0.00,0.00:0.00,0.93:60,60:65.0,92.5:0,0:0,0:77,85:73,65:40,8:-,NM_003968.3(UBA3) c.694-158T>A:-,0.6:-,NOT_FOUND 3 69111511 rs9831597 C A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1304,A/0.8696;Gene=UBA3/NM_003968.3/1;CC=c.694-181G>T;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.652-181G>T;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:0:0:0:6:172:20.02:0.00:20.02:1.00:0.00:1.00:60:83.3:0:0:108:42:10:NM_003968.3(UBA3) c.694-181G>T,NM_003968.3(UBA3) c.694-181G>T:0.73,0.73:NOT_FOUND,NOT_FOUND 3 69111512 rs9851078 A C 23 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.07987,C/0.9201;Gene=UBA3/NM_003968.3/1;CC=c.694-182T>G;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.652-182T>G;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:198:22.66:0.00:22.66:1.00:0.00:1.00:60:83.3:0:0:109:41:10:NM_003968.3(UBA3) c.694-182T>G,NM_003968.3(UBA3) c.694-182T>G:0.87,0.87:NOT_FOUND,NOT_FOUND 3 69112049 rs2289245 C T 60 nt VT=SNV;PN=T;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.4581,T/0.5419;Gene=UBA3/NM_003968.3/1;CC=c.693+84G>A;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.651+84G>A;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:39:37:0:0:19,20:634,626:0.00,60.37:0.00,50.83:0.00,9.54:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.1,44.5:0,0:0,0:44,35:107,114:40,24:-,NM_003968.3(UBA3) c.693+84G>A:-,0.54:-,NOT_FOUND 3 69112289 . C . . NT END=69112589;NT GT ./. 3 69112655 . C . . NT END=69113218;NT GT ./. 3 69112658 . CA C 10 idl,rn VT=DEL;SST=Single;DP=36;NP=22;Gene=UBA3/NM_003968.3/1;CC=c.473-5delT;VC=Intron;Gene=UBA3/NM_198195.1/0;CC=c.431-5delT;VC=Intron;DM=UBA3/ThiF;DM=UBA3/ThiF;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,CA,I,C:33:23:3:7:1,26,2,4:8,758,92,190:-0.17,0.00,4.41,9.87:-0.15,0.00,3.43,6.17:-0.01,0.00,0.98,3.70:0.00,0.00,0.00,0.61:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.87:60,60,60,60:18.0,36.2,11.0,9.5:0,0,1,2:0,0,0,0:105,96,89,91:42,46,62,54:0,22,1,13:-,NM_003968.3(UBA3) c.473-5delT:-,NOT_FOUND:-,NOT_FOUND 3 69113263 . C . . NT END=69117078;NT GT ./. 3 69117160 . C . . NT END=69120685;NT GT ./. 3 69120769 . C . . NT END=69124580;NT GT ./. 3 69124662 . C . . NT END=69126948;NT GT ./. 3 69127070 . C . . NT END=69129262;NT GT ./. 3 69129305 . C . . NT END=69129484;NT GT ./. 3 69129505 . A . . NT END=69134198;NT GT ./. 3 69134375 . G . . NT END=69150989;NT GT ./. 3 69151208 . G . . NT END=69153614;NT GT ./. 3 69153788 . A . . NT END=69158245;NT GT ./. 3 69158273 . C . . NT END=69167849;NT GT ./. 3 69169212 . C . . NT END=69171243;NT GT ./. 3 69169384 rs71982939 TTAAAA T 11 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=TTAAAA/0.8309,T/0.1691;DB;DBA=NA;PAF=TTAAAA/0.8309,T/0.1691;NP=75;Gene=LMOD3/NM_001304418.1/0;CC=c.295-178_295-174delTTTTA;VC=Intron;Gene=LMOD3/NM_198271.4/1;CC=c.295-178_295-174delTTTTA;VC=Intron;DM=LMOD3/Tropomodulin;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:TTAAAA,T:12:1:0:4:8,4:252,127:0.00,11.29:0.00,3.30:0.00,7.99:0.00,0.80:0.00,0.56:0.00,0.98:60,60:10.1,8.8:0,0:0,0:133,122:13,28:13,5:-,NM_198271.3(LMOD3) c.295-178_295-174delTTTTA:-,0.15:-,NOT_FOUND 3 69171496 rs139192915 GAGA G 103 PASS VT=DEL;SST=Single;DP=79;DB;DBA=NA;PAF=GAGA/0.9884,G/0.01158;NP=129;Gene=LMOD3/NM_001304418.1/0;CC=c.39_41delTCT;ProtCh=p.L14del;VC=InFrameDel;Gene=LMOD3/NM_198271.4/1;CC=c.39_41delTCT;ProtCh=p.L14del;VC=InFrameDel;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GAGA,T,G:79:36:0:35:44,1,34:1411,7,1096:0.00,-0.19,102.67:0.00,-0.07,38.05:0.00,-0.12,64.61:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:7.9,75.0,1.8:1,0,0:0,0,0:100,70,93:44,57,57:38,0,22:-,NM_198271.3(LMOD3) c.39_41delTCT (p.Leu13[1]):-,0.01:-,0.020994 3 69171538 . T . . NT END=69221010;NT GT ./. 3 69221133 . C . . NT END=69225673;NT GT ./. 3 69225588 rs11128118 T G 101 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=T/0.253,G/0.747;Gene=FRMD4B/NM_015123.2/1;CC=c.2984+87A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:27:0:0:28:879:101.25:87.48:13.77:1.00:1.00:1.00:60:41.0:0:0:25:122:17:NM_015123.1(FRMD4B) c.2984+87A>C,NM_015123.1(FRMD4B) c.2984+87A>C:0.78,0.78:NOT_FOUND,NOT_FOUND 3 69225808 . C . . NT END=69230048;NT GT ./. 3 69225875 rs9872199 T A 95 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2181,A/0.7819;Gene=FRMD4B/NM_015123.2/1;CC=c.2852-68A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:6:0:0:27:821:94.91:18.53:76.38:1.00:1.00:1.00:60:61.1:0:0:95:55:26:NM_015123.1(FRMD4B) c.2852-68A>T,NM_015123.1(FRMD4B) c.2852-68A>T:0.82,0.82:NOT_FOUND,NOT_FOUND 3 69225911 rs9868107 A G 73 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.04453,G/0.9555;Gene=FRMD4B/NM_015123.2/1;CC=c.2852-104T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:2:0:0:19:635:72.54:4.03:68.52:1.00:1.00:1.00:60:63.9:0:0:112:33:19:NM_015123.1(FRMD4B) c.2852-104T>C,NM_015123.1(FRMD4B) c.2852-104T>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 69229976 rs12054011 G C 137 nt VT=SNV;PN=T;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.08427,C/0.9157;PC=0.019;Gene=FRMD4B/NM_015123.2/1;CC=c.2851+74C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:C:37:36:0:0:37:1192:136.80:125.42:11.38:1.00:1.00:1.00:60:92.7:0:0:49:102:35:NM_015123.1(FRMD4B) c.2851+74C>G,NM_015123.1(FRMD4B) c.2851+74C>G:0.92,0.92:NOT_FOUND,NOT_FOUND 3 69230026 rs9818314 T C 281 nt VT=SNV;PN=T;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.08606,C/0.9139;Gene=FRMD4B/NM_015123.2/1;CC=c.2851+24A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:75:71:0:0:75:2455:281.23:228.01:53.21:1.00:1.00:1.00:60:82.4:0:0:41:106:21:NM_015123.1(FRMD4B) c.2851+24A>G,NM_015123.1(FRMD4B) c.2851+24A>G:0.92,0.92:0.932846,0.932846 3 69230061 rs9831516 G A 381 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.2296,A/0.7704,C/.;PC=1.000;Gene=FRMD4B/NM_015123.2/1;CC=c.2840C>T;ProtCh=p.S947L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:102:92:0:0:102:3327:381.23:281.83:99.40:1.00:1.00:1.00:60:70.2:0:0:57:92:27:NM_015123.1(FRMD4B) c.2840C>T (p.Ser947Leu),NM_015123.1(FRMD4B) c.2840C>T (p.Ser947Leu):0.8,0.8:0.882641,0.882641 3 69230801 rs9836305 G A 323 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.2298,A/0.7702;PC=0.981;Gene=FRMD4B/NM_015123.2/1;CC=c.2100C>T;ProtCh=p.H700=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:50:0:0:90:2806:323.27:108.76:214.52:1.00:1.00:1.00:60:37.4:0:0:90:57:39:NM_015123.1(FRMD4B) c.2100C>T (p.(=)),NM_015123.1(FRMD4B) c.2100C>T (p.(=)):0.8,0.8:0.884214,0.884214 3 69230862 . C . . NT END=69231747;NT GT ./. 3 69231869 . C . . NT END=69236919;NT GT ./. 3 69236699 rs76122125 A T 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.8822,T/0.1178;PC=0.004;Gene=FRMD4B/NM_015123.2/1;CC=c.1919+222T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:A,T:8:8:0:0:5,3:132,101:0.00,9.24:0.00,9.24:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:93.6,111.7:1,0:0,0:54,83:96,67:24,41:-,NM_015123.1(FRMD4B) c.1919+222T>A:-,0.13:-,NOT_FOUND 3 69236701 rs4593034 A T 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.3403,T/0.6597;PC=0.002;Gene=FRMD4B/NM_015123.2/1;CC=c.1919+220T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:132:A,T:8:8:0:0:4,4:129,134:0.00,12.90:0.00,12.90:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:68.5,132.2:0,0:0,0:44,71:94,79:12,34:-,NM_015123.1(FRMD4B) c.1919+220T>A:-,0.61:-,NOT_FOUND 3 69236703 rs4593035 A T 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2366,T/0.7634;PC=0.003;Gene=FRMD4B/NM_015123.2/1;CC=c.1919+218T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:269:30.72:30.72:0.00:1.00:1.00:0.00:60:100.4:0:0:58:80:24:NM_015123.1(FRMD4B) c.1919+218T>A,NM_015123.1(FRMD4B) c.1919+218T>A:0.72,0.72:NOT_FOUND,NOT_FOUND 3 69237069 . C . . NT END=69239045;NT GT ./. 3 69239104 . C . . NT END=69242797;NT GT ./. 3 69242770 rs577569605 CA C 123 rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2282;Gene=FRMD4B/NM_015123.2/1;CC=c.1714+28delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:CA,C:41:38:0:37:5,36:171,1129:0.00,123.46:0.00,93.84:0.00,29.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.8,7.6:0,0:0,0:44,28:107,119:34,16:-,NM_015123.1(FRMD4B) c.1714+28delT:-,NOT_FOUND:-,NOT_FOUND 3 69243025 . C . . NT END=69244171;NT GT ./. 3 69244162 rs9853587 G A 270 nt VT=SNV;PN=C;NN=T;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.2794,A/0.7206;Gene=FRMD4B/NM_015123.2/1;CC=c.1488+11C>T;VC=Intron;DM=FRMD4B/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:74:65:0:0:74:2347:269.89:204.19:65.70:1.00:1.00:1.00:60:37.9:0:0:66:83:28:NM_015123.1(FRMD4B) c.1488+11C>T,NM_015123.1(FRMD4B) c.1488+11C>T:0.75,0.75:0.834292,0.834292 3 69244293 . C . . NT END=69244380;NT GT ./. 3 69244516 . C . . NT END=69245404;NT GT ./. 3 69244863 rs5849881 TAAGC T 9 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TAAGC/0.03035,T/0.9696;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=TAAGC/0.03035,T/0.9696;DB;DBA=NA;PAF=TAAGC/0.03035,T/0.9696;NP=17;PC=0.137;Gene=FRMD4B/NM_015123.2/1;CC=c.1235-352_1235-349delGCTT;VC=Intron;DM=FRMD4B/DUF3338;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TAAGC,T:4:0:0:3:1,3:32,88:0.00,9.25:0.00,0.00:0.00,9.25:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,17.0:0,0:0,0:142,58:8,93:0,17:-,NM_015123.1(FRMD4B) c.1235-352_1235-349delGCTT:-,NOT_FOUND:-,NOT_FOUND 3 69245454 rs9310141 T C 200 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.03015,C/0.9698;PC=0.186;Gene=FRMD4B/NM_015123.2/1;CC=c.1186A>G;ProtCh=p.T396A;VC=Missense;DM=FRMD4B/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:C:56:41:0:0:56:1737:200.17:118.34:81.83:1.00:1.00:1.00:60:40.6:0:0:83:67:36:NM_015123.1(FRMD4B) c.=,NM_015123.1(FRMD4B) c.=:0.97,0.97:0.967515,0.967515 3 69245548 . C . . NT END=69246049;NT GT ./. 3 69245689 rs397739185 A AAAAAC 36 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.04313,AAAAAC/0.9569,AAAAC/.;DB;DBA=NA;PAF=A/0.04313,AAAAAC/0.9569;NP=914;Gene=FRMD4B/NM_015123.2/1;CC=c.1093-147_1093-143dupGTTTT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAAAAC:22:0:12:0:10,12:299,368:0.00,35.96:0.00,0.00:0.00,35.96:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.4,12.2:1,0:0,0:126,90:20,61:9,16:-,NM_015123.1(FRMD4B) c.1093-143_1093-142insGTTTT:-,NOT_FOUND:-,NOT_FOUND 3 69245910 rs9823592 C A 67 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.121,A/0.879;Gene=FRMD4B/NM_015123.2/1;CC=c.1092+141G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:16:0:0:18:586:67.18:60.13:7.05:1.00:1.00:1.00:60:65.6:0:0:48:101:28:NM_015123.1(FRMD4B) c.1092+141G>T,NM_015123.1(FRMD4B) c.1092+141G>T:0.89,0.89:NOT_FOUND,NOT_FOUND 3 69245949 rs9860235 G C 86 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.2752,C/0.7248;Gene=FRMD4B/NM_015123.2/1;CC=c.1092+102C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:56:C:22:22:0:0:22:752:85.69:81.97:3.73:1.00:1.00:1.00:60:59.8:0:0:53:97:28:NM_015123.1(FRMD4B) c.1092+102C>G,NM_015123.1(FRMD4B) c.1092+102C>G:0.76,0.76:NOT_FOUND,NOT_FOUND 3 69246152 rs13059488 A G 227 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=61;DB;DBA=NA;PAF=A/0.2502,G/0.7498;PC=1.000;Gene=FRMD4B/NM_015123.2/1;CC=c.991T>C;ProtCh=p.L331=;VC=Silent;DM=FRMD4B/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:G:61:40:0:0:61:1975:226.52:109.55:116.97:1.00:1.00:1.00:60:39.2:0:0:89:58:29:NM_015123.1(FRMD4B) c.991T>C (p.(=)),NM_015123.1(FRMD4B) c.991T>C (p.(=)):0.78,0.78:0.829337,0.829337 3 69246190 . C . . NT END=69247847;NT GT ./. 3 69246274 rs13059687 A G 101 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.2845,G/0.7155;Gene=FRMD4B/NM_015123.2/1;CC=c.954-85T>C;VC=Intron;DM=FRMD4B/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:G:28:7:0:0:28:875:100.81:21.23:79.59:1.00:1.00:1.00:60:47.8:0:0:100:49:30:NM_015123.1(FRMD4B) c.954-85T>C,NM_015123.1(FRMD4B) c.954-85T>C:0.75,0.75:NOT_FOUND,NOT_FOUND 3 69246413 rs6549187 T C 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.1556,C/0.8444;Gene=FRMD4B/NM_015123.2/1;CC=c.954-224A>G;VC=Intron;DM=FRMD4B/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:281:32.39:0.00:32.39:1.00:0.00:1.00:60:42.1:0:0:89:62:28:NM_015123.1(FRMD4B) c.954-224A>G,NM_015123.1(FRMD4B) c.954-224A>G:0.86,0.86:NOT_FOUND,NOT_FOUND 3 69247668 rs4624565 C T 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2885,T/0.7115;Gene=FRMD4B/NM_015123.2/1;CC=c.953+181G>A;VC=Intron;DM=FRMD4B/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:253:29.11:29.11:0.00:1.00:1.00:0.00:60:34.1:0:0:54:95:35:NM_015123.1(FRMD4B) c.953+181G>A,NM_015123.1(FRMD4B) c.953+181G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 3 69247926 . C . . NT END=69249521;NT GT ./. 3 69249350 rs4855363 G A 70 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.02855,A/0.9714;PC=0.001;Gene=FRMD4B/NM_015123.2/1;CC=c.877-1425C>T;VC=Intron;DM=FRMD4B/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:A:18:18:0:0:18:610:69.58:69.58:0.00:1.00:1.00:0.00:60:44.0:0:0:37:113:33:NM_015123.1(FRMD4B) c.877-1425C>T,NM_015123.1(FRMD4B) c.877-1425C>T:0.97,0.97:NOT_FOUND,NOT_FOUND 3 69249872 . G . . NT END=69265412;NT GT ./. 3 69265291 rs7643175 T C 61 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.02416,C/0.9758;PC=0.001;Gene=FRMD4B/NM_015123.2/1;CC=c.876+123A>G;VC=Intron;DM=FRMD4B/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:16:0:0:16:529:60.51:58.72:1.79:1.00:1.00:1.00:60:59.3:0:0:57:92:24:NM_015123.1(FRMD4B) c.876+123A>G,NM_015123.1(FRMD4B) c.876+123A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 69265304 rs77475566 C CA 50 rn VT=INS;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.1468,CA/0.8532;DB;DBA=NA;PAF=C/0.1468,CA/0.8532;NP=911;PC=0.212;Gene=FRMD4B/NM_015123.2/1;CC=c.876+109_876+110insT;VC=Intron;DM=FRMD4B/FERM_C;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,CA:16:17:15:0:2,14:70,498:0.00,50.49:0.00,48.59:0.00,1.90:0.00,1.00:0.00,1.00:0.00,0.88:60,60:35.5,65.9:0,1:0,0:142,62:8,89:0,24:-,NM_015123.1(FRMD4B) c.876+109_876+110insT:-,0.84:-,NOT_FOUND 3 69265371 rs62254460 G C 109 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=NA;PC=0.001;Gene=FRMD4B/NM_015123.2/1;CC=c.876+43C>G;VC=Intron;DM=FRMD4B/FERM_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:C:29:24:0:0:29:950:108.78:83.07:25.70:1.00:1.00:1.00:60:50.3:0:0:50:101:36:NM_015123.1(FRMD4B) c.876+43C>G,NM_015123.1(FRMD4B) c.876+43C>G:0.85,0.85:0.812615,0.812615 3 69265501 . C . . NT END=69267471;NT GT ./. 3 69267531 . C . . NT END=69271007;NT GT ./. 3 69267578 rs4855301 A T 71 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.1456,T/0.8544;Gene=FRMD4B/NM_015123.2/1;CC=c.732-48T>A;VC=Intron;DM=FRMD4B/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:T:21:5:0:0:21:607:70.57:8.84:61.73:1.00:1.00:1.00:60:48.2:0:0:111:40:17:NM_015123.1(FRMD4B) c.732-48T>A,NM_015123.1(FRMD4B) c.732-48T>A:0.85,0.85:0.809798,0.809798 3 69271075 . C . . NT END=69273756;NT GT ./. 3 69271206 rs6549189 T C 33 nt VT=SNV;PN=G;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.02456,C/0.9754;Gene=FRMD4B/NM_015123.2/1;CC=c.666-132A>G;VC=Intron;DM=FRMD4B/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:0:0:0:9:283:32.56:0.00:32.56:1.00:0.00:1.00:60:35.7:0:0:95:56:24:NM_015123.1(FRMD4B) c.666-132A>G,NM_015123.1(FRMD4B) c.666-132A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 69273656 rs9848940 G T 55 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.01757,T/0.9824;Gene=FRMD4B/NM_015123.2/1;CC=c.665+102C>A;VC=Intron;DM=FRMD4B/FERM_M GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:15:0:0:15:476:54.75:54.75:0.00:1.00:1.00:0.00:60:34.7:0:0:39:111:18:NM_015123.1(FRMD4B) c.665+102C>A,NM_015123.1(FRMD4B) c.665+102C>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 69273842 . C . . NT END=69298375;NT GT ./. 3 69298400 . C . . NT END=69299192;NT GT ./. 3 69299251 . C . . NT END=69336901;NT GT ./. 3 69299441 rs74511349 C CGGGTGT 9 nt VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=46;NP=7;Gene=FRMD4B/NM_015123.2/1;CC=c.502-192_502-191insACACCC;VC=Intron;DM=FRMD4B/FERM_M;DM=FRMD4B/DUF3338;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,CGGGTGT:15:2:5:0:11,4:297,134:0.00,9.34:0.00,-0.06:0.00,9.41:0.00,0.75:0.00,0.53:0.00,0.97:60,60:7.6,12.0:0,1:0,0:126,46:25,102:7,14:-,NM_015123.1(FRMD4B) c.502-192_502-191insACACCC:-,NOT_FOUND:-,NOT_FOUND 3 69328971 rs9847661 T C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2037,C/0.7963;Gene=FRMD4B/NM_015123.2/1;CC=c.501+7932A>G;VC=Intron;DM=FRMD4B/FERM_M;DM=FRMD4B/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:2:0:0:5:170:19.38:3.83:15.56:1.00:1.00:1.00:60:47.6:0:0:68:83:7:NM_015123.1(FRMD4B) c.501+7932A>G,NM_015123.1(FRMD4B) c.501+7932A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 3 69336695 rs4855380 G A 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5262,A/0.4738;Gene=FRMD4B/NM_015123.2/1;CC=c.501+208C>T;VC=Intron;DM=FRMD4B/FERM_M;DM=FRMD4B/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:158:18.18:18.18:0.00:1.00:1.00:0.00:60:81.0:0:0:84:67:22:NM_015123.1(FRMD4B) c.501+208C>T,NM_015123.1(FRMD4B) c.501+208C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 3 69336740 rs4855381 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4984,G/0.5016;Gene=FRMD4B/NM_015123.2/1;CC=c.501+163T>C;VC=Intron;DM=FRMD4B/FERM_M;DM=FRMD4B/DUF3338 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:135:15.87:15.87:0.00:1.00:1.00:0.00:60:58.8:0:0:103:45:26:NM_015123.1(FRMD4B) c.501+163T>C,NM_015123.1(FRMD4B) c.501+163T>C:0.52,0.52:NOT_FOUND,NOT_FOUND 3 69336988 . C . . NT END=69351492;NT GT ./. 3 69351460 rs533192007 AAG A 54 nt VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=AAG/0.7722,A/0.2278;DB;DBA=NA;PAF=AAG/0.7722,A/0.2278;DB;DBA=NA;PAF=AAG/0.7722,A/0.2278;NP=1339;Gene=FRMD4B/NM_015123.2/1;CC=c.416+32_416+33delCT;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_M;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AAG,A:39:33:0:18:21,18:652,567:0.00,53.61:0.00,43.03:0.00,10.58:0.00,1.00:0.00,1.00:0.00,0.97:60,70:19.7,2.7:0,0:0,0:63,44:87,99:30,16:-,NM_015123.1(FRMD4B) c.416+32_416+33delCT:-,0.24:-,NOT_FOUND 3 69351587 . C . . NT END=69360412;NT GT ./. 3 69360509 . C . . NT END=69362601;NT GT ./. 3 69362349 rs4855306 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.02376,T/0.9762;PC=0.002;Gene=FRMD4B/NM_015123.2/1;CC=c.228+254G>A;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:192:22.06:22.06:0.00:1.00:1.00:0.00:60:54.3:0:0:34:116:6:NM_015123.1(FRMD4B) c.228+254G>A,NM_015123.1(FRMD4B) c.228+254G>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 69362669 . C . . NT END=69372103;NT GT ./. 3 69362706 rs1483895 C T 91 nt VT=SNV;PN=A;NN=G;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.393,T/0.607;Gene=FRMD4B/NM_015123.2/1;CC=c.163-38G>A;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_C;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:18:0:0:16,28:493,901:0.00,90.84:0.00,21.22:0.00,69.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.8,40.3:0,0:0,0:116,104:27,43:25,27:-,NM_015123.1(FRMD4B) c.163-38G>A:-,0.66:-,0.696426 3 69362722 rs2314992 C A 40 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.6314,A/0.3686;Gene=FRMD4B/NM_015123.2/1;CC=c.163-54G>T;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_C;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:37:15:0:0:15,22:442,750:40.48,0.00:6.48,0.00:34.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.9,36.9:0,0:0,0:117,110:23,39:30,20:NM_015123.1(FRMD4B) c.163-54G>T,-:0.32,-:0.285589,- 3 69362908 rs1483894 T G 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.008387,G/0.9916;Gene=FRMD4B/NM_015123.2/1;CC=c.163-240A>C;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_C;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:1:0:0:6:202:23.06:3.88:19.18:1.00:1.00:1.00:60:57.2:0:0:97:53:30:NM_015123.1(FRMD4B) c.163-240A>C,NM_015123.1(FRMD4B) c.163-240A>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 69372187 . G . . NT END=69402693;NT GT ./. 3 69402489 rs1564756 T G 11 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4445,G/0.5555;Gene=FRMD4B/NM_015123.2/1;CC=c.162+32490A>C;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_C;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:G,T:8:8:0:0:4,4:116,131:11.10,0.00:11.10,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:60.5,0.0:0,0:0,0:28,88:122,63:12,2:NM_015123.1(FRMD4B) c.162+32490A>C,-:0.61,-:NOT_FOUND,- 3 69402801 rs6795775 C T 139 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=122;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5701,T/0.4299;PC=0.033;Gene=FRMD4B/NM_015123.2/1;CC=c.162+32178G>A;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_C;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:122:92:0:0:74,48:2342,1518:0.00,139.23:0.00,70.59:0.00,68.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,37.6:0,0:0,0:82,81:69,65:33,23:-,NM_015123.1(FRMD4B) c.162+32178G>A:-,0.38:-,NOT_FOUND 3 69402849 . G . . NT END=69434978;NT GT ./. 3 69402923 rs6762186 T G 75 nt VT=SNV;PN=T;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=T/0.5545,G/0.4455;PC=1.000;Gene=FRMD4B/NM_015123.2/1;CC=c.162+32056A>C;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_C;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:70:13:0:0:26,44:823,1369:74.65,0.00:7.42,0.00:67.23,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:48.2,4.9:0,0:0,0:90,106:58,43:38,24:NM_015123.1(FRMD4B) c.162+32056A>C,-:0.4,-:NOT_FOUND,- 3 69415211 rs371244258 AACACACACAC A 7 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.053;Gene=FRMD4B/NM_015123.2/1;CC=c.162+19758_162+19767delGTGTGTGTGT;VC=Intron;DM=FRMD4B/DUF3338;DM=FRMD4B/FERM_M;DM=FRMD4B/FERM_C;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;DM=FRMD4B/FERM_N;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:A:2:3:0:4:2:122:6.95:1.74:5.21:0.51:0.89:0.51:60:14.0:2:0:52:89:18:NM_015123.1(FRMD4B) c.162+19758_162+19767delGTGTGTGTGT,NM_015123.1(FRMD4B) c.162+19758_162+19767delGTGTGTGTGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 69435141 . G . . NT END=69788748;NT GT ./. 3 69435431 rs922949 A G 24 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3395,G/0.6605;PC=0.004;Gene=FRMD4B/NM_015123.2/1;CC=c.-291T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:1:0:0:7:209:24.19:1.94:22.25:1.00:1.00:1.00:60:43.1:0:0:126:25:19:NM_015123.1(FRMD4B) c.-290-u1T>C,NM_015123.1(FRMD4B) c.-290-u1T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 3 69629397 . TAC T 7 idl,rn VT=DEL;SST=Single;DP=4;NP=3;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:T:2:4:0:4:2:132:7.15:1.99:5.16:0.51:0.51:0.89:60:11.0:2:0:85:61:4:chr3 g.69629398_69629399delAC (intergenic),chr3 g.69629398_69629399delAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 69650118 rs200622542 A T 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:A,T:4:1:0:0:2,2:45,67:0.00,6.47:0.00,-0.29:0.00,6.75:0.00,0.51:0.00,0.67:0.00,0.89:40,60:81.0,17.0:2,2:0,0:77,86:71,62:44,35:-,chr3 g.69650117A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 69688378 . AGT A,AGTGT 7 idl,nt VT=DEL;SST=Single;DP=5;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:29:AGT,AGTGT,A:5:4:2:2:1,2,2:36,62,68:0.00,6.14,6.74:0.00,6.25,1.63:0.00,-0.11,5.11:0.00,0.00,0.46:0.00,0.00,0.87:0.00,0.00,0.80:60,60,60:33.0,0.0,31.0:0,0,0:0,0,0:11,94,55:112,57,96:0,2,23:chr3 g.69688379_69688380delGT (intergenic),chr3 g.69688379_69688380dupGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 69688451 rs4855317 G T 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4423,T/0.5577;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:127:14.61:3.88:10.73:1.00:1.00:1.00:60:31.8:0:0:93:43:33:chr3 g.69688450G>T (intergenic),chr3 g.69688450G>T (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 3 69761668 rs9856177 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2736,C/0.7264 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:4:0:0:4:135:15.41:9.59:5.82:1.00:1.00:1.00:60:33.8:0:0:32:73:8:chr3 g.69761667T>C (intergenic),chr3 g.69761667T>C (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 3 69788853 . G . . NT END=69812706;NT GT ./. 3 69812844 . G . . NT END=69812961;NT GT ./. 3 69813094 . G . . NT END=69915374;NT GT ./. 3 69915498 . G . . NT END=69928284;NT GT ./. 3 69928535 . G . . NT END=69985750;NT GT ./. 3 69944959 rs60449544 T TTG 11 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.5809,TG/.,TTG/0.4191;DB;DBA=NA;PAF=NA;NP=63;Gene=MITF/NM_198159.2/0;CC=c.354+16466_354+16467insGT;VC=Intron;Gene=MITF/NM_001184967.1/0;CC=c.198+16466_198+16467insGT;VC=Intron;Gene=MITF/NM_006722.2/0;CC=c.351+16466_351+16467insGT;VC=Intron;Gene=MITF/NM_198177.2/0;CC=c.306+16466_306+16467insGT;VC=Intron;DM=MITF/MITF_TFEB_C_3_N;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:T,TTG:11:11:4:0:7,4:180,118:0.00,10.59:0.00,8.15:0.00,2.44:0.00,0.82:0.00,0.82:0.00,0.92:60,60:5.9,54.0:0,0:0,0:84,29:37,102:38,7:-,NM_001184967.1(MITF) c.198+16425_198+16426insTG:-,NOT_FOUND:-,NOT_FOUND 3 69985907 . G . . NT END=69986972;NT GT ./. 3 69987201 . G . . NT END=69987502;NT GT ./. 3 69988217 . G . . NT END=69988248;NT GT ./. 3 69988333 . G . . NT END=69990386;NT GT ./. 3 69990483 . G . . NT END=69998201;NT GT ./. 3 69998320 . G . . NT END=70000962;NT GT ./. 3 70001038 . G . . NT END=70005605;NT GT ./. 3 70005682 . G . . NT END=70008423;NT GT ./. 3 70005712 rs55754687 T C 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.9884,C/0.01158;PC=0.025;Gene=MITF/NM_198159.2/0;CC=c.1013+31T>C;VC=Intron;Gene=MITF/NM_001184967.1/0;CC=c.857+31T>C;VC=Intron;Gene=MITF/NM_006722.2/0;CC=c.1010+31T>C;VC=Intron;Gene=MITF/NM_198177.2/0;CC=c.965+31T>C;VC=Intron;Gene=MITF/NM_000248.3/1;CC=c.710+31T>C;VC=Intron;Gene=MITF/NM_198158.2/0;CC=c.692+31T>C;VC=Intron;Gene=MITF/NM_198178.2/0;CC=c.524+31T>C;VC=Intron;DM=MITF/HLH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:C,T:22:10:0:0:16,6:515,197:53.51,0.00:15.93,0.00:37.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,0.0:0,0:0,0:96,121:52,14:21,19:NM_000248.3(MITF) c.710+31T>C,-:0.02,-:0.021836,- 3 70008572 . G . . NT END=70013997;NT GT ./. 3 70014400 . C . . NT END=71008397;NT GT ./. 3 70014447 rs9863910 T C 75 nt VT=SNV;PN=T;NN=C;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.8986,C/0.1014;PC=0.016;Gene=MITF/NM_198159.2/0;CC=c.*48T>C;VC=3UTR;Gene=MITF/NM_001184967.1/0;CC=c.*48T>C;VC=3UTR;Gene=MITF/NM_006722.2/0;CC=c.*48T>C;VC=3UTR;Gene=MITF/NM_198177.2/0;CC=c.*48T>C;VC=3UTR;Gene=MITF/NM_000248.3/1;CC=c.*48T>C;VC=3UTR;Gene=MITF/NM_198158.2/0;CC=c.*48T>C;VC=3UTR;Gene=MITF/NM_198178.2/0;CC=c.*48T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:65:15:0:0:27,38:816,1248:75.26,0.00:14.20,0.00:61.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.5,4.8:0,0:0,0:102,105:49,46:29,26:NM_000248.3(MITF) c.*48T>C,-:0.1,-:0.132324,- 3 70088734 rs1491694 A T 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.48,T/0.52 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:126:A,T:8:4:0:0:4,4:131,122:0.00,11.70:0.00,0.88:0.00,10.81:0.00,0.87:0.00,0.51:0.00,0.96:60,60:2.8,37.8:0,0:0,0:90,82:61,63:20,13:-,chr3 g.70088733A>T (intergenic):-,0.48:-,NOT_FOUND 3 70175261 rs6549270 T C 38 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.1731,C/0.8269;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:184:C,T:18:14:0:0:12,6:372,193:37.89,0.00:17.63,0.00:20.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.9,5.5:0,0:0,0:56,55:94,86:22,21:chr3 g.70175260T>C (intergenic),-:0.77,-:NOT_FOUND,- 3 70175372 rs6762939 C T 28 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.9591,T/0.04093 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:12:0:1:7,9:233,288:0.00,28.33:0.00,18.62:0.00,9.71:0.00,1.00:0.00,1.00:0.00,0.99:60,60:16.3,77.3:0,0:0,0:94,109:57,41:15,24:-,chr3 g.70175371C>T (intergenic):-,0.05:-,NOT_FOUND 3 70175406 . C CT 7 rn VT=INS;SST=Single;DP=16;NP=6;PC=0.084;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,CT,D:16:13:3:1:12,3,1:398,86,32:0.00,6.77,2.14:0.00,7.18,1.03:0.00,-0.40,1.11:0.00,0.54,0.00:0.00,0.88,0.00:0.00,0.73,0.00:60,60,60:33.1,44.7,0.0:0,0,0:0,0,0:82,43,27:61,108,123:41,38,0:-,chr3 g.70175406_70175407insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 70323243 rs11915741 C T 16 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1763,T/0.8237;NP=1;NP=492;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:2:5:136:15.95:5.48:10.48:1.00:1.00:1.00:60:96.2:0:0:109:41:16:chr3 g.70323242C>T (intergenic),chr3 g.70323242C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 70323247 rs11915742 C T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1635,A/.,G/.,T/0.8365;NP=487;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:1:5:173:19.68:5.92:13.77:1.00:1.00:1.00:60:97.2:1:0:97:37:26:chr3 g.70323246C>T (intergenic),chr3 g.70323246C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 70653560 rs59516033 T A 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=13;NP=2;NP=27;NP=3;NP=3;NP=7;NP=7;PC=0.047 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:A,T,I:7:6:2:0:3,2,2:98,71,53:9.64,0.00,4.87:4.82,0.00,3.09:4.82,0.00,1.79:0.69,0.00,0.00:0.95,0.00,0.00:0.95,0.00,0.00:60,60,60:32.7,0.0,24.5:1,0,0:0,0,0:8,74,56:76,57,94:8,54,2:chr3 g.70653559T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 70686155 rs9862798 G A 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4984,A/0.5016 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:77.8:0:0:57:93:43:chr3 g.70686154G>A (intergenic),chr3 g.70686154G>A (intergenic):0.52,0.52:NOT_FOUND,NOT_FOUND 3 70686181 rs9826254 C A 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.04912,A/0.9509,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:4:0:0:5:166:18.98:11.43:7.55:1.00:1.00:1.00:60:77.6:2:0:50:101:19:chr3 g.70686180C>A (intergenic),chr3 g.70686180C>A (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 71008341 . GT G 29 idl,rn VT=DEL;SST=Single;DP=61;NP=21;PC=0.270;Gene=FOXP1/NM_001244813.1/0;CC=c.*56delA;VC=3UTR;Gene=FOXP1/NM_001244815.1/0;CC=c.*56delA;VC=3UTR;Gene=FOXP1/NM_001244814.1/0;CC=c.*56delA;VC=3UTR;Gene=FOXP1/NM_001244812.1/0;CC=c.*56delA;VC=3UTR;Gene=FOXP1/NM_001244816.1/0;CC=c.*56delA;VC=3UTR;Gene=FOXP1/NM_001244808.1/0;CC=c.*56delA;VC=3UTR;Gene=FOXP1/NM_001244810.1/0;CC=c.*56delA;VC=3UTR;Gene=FOXP1/NM_032682.5/1;CC=c.*56delA;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,GT,I,G:59:55:4:14:1,42,4,12:7,1366,127,428:-0.22,0.00,8.65,29.47:-0.15,0.00,4.16,24.27:-0.07,0.00,4.49,5.19:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:60,60,60,70:125.0,38.1,5.5,30.2:0,0,0,2:0,0,0,0:107,40,30,33:37,105,99,116:0,34,14,31:-,NM_032682.5(FOXP1) c.*44A[12]:-,NOT_FOUND:-,NOT_FOUND 3 71008543 . C . . NT END=71015040;NT GT ./. 3 71015021 rs7638391 G T 294 nt VT=SNV;PN=T;NN=T;SST=Single;DP=82;DB;DBA=in-clinvar;PAF=G/0.02536,T/0.9746;Gene=FOXP1/NM_001244813.1/0;CC=c.1589+20C>A;VC=Intron;Gene=FOXP1/NM_001244815.1/0;CC=c.1895+20C>A;VC=Intron;Gene=FOXP1/NM_001244814.1/0;CC=c.1889+20C>A;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.1661+20C>A;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.1889+20C>A;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.1886+20C>A;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.1937+20C>A;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.1889+20C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:82:70:0:0:1,81:14,2577:0.00,294.22:0.00,197.84:0.00,96.38:0.00,1.00:0.00,1.00:0.00,1.00:60,60:130.0,34.1:0,0:0,0:39,40:112,106:0,23:NM_032682.5(FOXP1) c.1889+20C>A,NM_032682.5(FOXP1) c.1889+20C>A:0.96,0.96:0.941258,0.941258 3 71015208 . C . . NT END=71019886;NT GT ./. 3 71019957 . C . . NT END=71021161;NT GT ./. 3 71021332 . C . . NT END=71021705;NT GT ./. 3 71021828 . C . . NT END=71026091;NT GT ./. 3 71025935 rs13068094 C T 28 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7161,T/0.2839;Gene=FOXP1/NM_001244813.1/0;CC=c.1230+157G>A;VC=Intron;Gene=FOXP1/NM_001244815.1/0;CC=c.1536+157G>A;VC=Intron;Gene=FOXP1/NM_001244814.1/0;CC=c.1530+157G>A;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.1302+157G>A;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.1530+157G>A;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.1527+157G>A;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.1530+157G>A;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.1530+157G>A;VC=Intron;DM=FOXP1/Forkhead;DM=FOXP1/Forkhead;DM=FOXP1/Forkhead;DM=FOXP1/Forkhead GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:8:0:0:8:246:28.41:28.41:0.00:1.00:1.00:0.00:60:42.9:0:0:14:135:12:NM_032682.5(FOXP1) c.1530+157G>A,NM_032682.5(FOXP1) c.1530+157G>A:0.33,0.33:NOT_FOUND,NOT_FOUND 3 71026194 . C . . NT END=71026793;NT GT ./. 3 71026874 . C . . NT END=71026978;NT GT ./. 3 71027181 . C . . NT END=71037144;NT GT ./. 3 71037229 . C . . NT END=71050122;NT GT ./. 3 71050211 . C . . NT END=71064699;NT GT ./. 3 71064805 . C . . NT END=71090478;NT GT ./. 3 71090684 . C . . NT END=71096092;NT GT ./. 3 71096247 . C . . NT END=71101687;NT GT ./. 3 71101778 . C . . NT END=71102786;NT GT ./. 3 71102925 . C . . NT END=71113974;NT GT ./. 3 71114078 . G . . NT END=71161686;NT GT ./. 3 71161789 . C . . NT END=71179648;NT GT ./. 3 71162001 rs3843363 G A 46 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.5248,A/0.4752;Gene=FOXP1/NM_001244815.1/0;CC=c.187-213C>T;VC=Intron;Gene=FOXP1/NM_001244814.1/0;CC=c.181-213C>T;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.181-213C>T;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.181-213C>T;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.181-213C>T;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.181-213C>T;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.181-213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:0:0:0:14:396:46.21:0.00:46.21:1.00:0.00:1.00:60:51.6:0:0:80:60:54:NM_032682.5(FOXP1) c.181-213C>T,NM_032682.5(FOXP1) c.181-213C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 3 71180093 . A . . NT END=71247032;NT GT ./. 3 71231653 rs12631530 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5665,G/0.4335;PC=0.016;Gene=FOXP1/NM_001244814.1/0;CC=c.180+15700T>C;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.180+15700T>C;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.180+15700T>C;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.180+15700T>C;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.180+15700T>C;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.180+15700T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:114:13.28:6.02:7.26:1.00:1.00:1.00:60:123.8:1:0:55:95:16:NM_032682.5(FOXP1) c.180+15700T>C,NM_032682.5(FOXP1) c.180+15700T>C:0.42,0.42:NOT_FOUND,NOT_FOUND 3 71231744 rs9310211 G A 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5491,A/0.4509;PC=0.322;Gene=FOXP1/NM_001244814.1/0;CC=c.180+15609C>T;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.180+15609C>T;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.180+15609C>T;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.180+15609C>T;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.180+15609C>T;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.180+15609C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:125:14.41:2.88:11.53:1.00:1.00:1.00:60:133.0:0:0:131:9:14:NM_032682.5(FOXP1) c.180+15609C>T,NM_032682.5(FOXP1) c.180+15609C>T:0.46,0.46:NOT_FOUND,NOT_FOUND 3 71246918 rs2293137 C T 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.7616,T/0.2384;PC=0.001;Gene=FOXP1/NM_001244814.1/0;CC=c.180+435G>A;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.180+435G>A;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.180+435G>A;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.180+435G>A;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.180+435G>A;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.180+435G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:28:27:0:0:13,15:368,444:0.00,43.12:0.00,41.69:0.00,1.43:0.00,1.00:0.00,1.00:0.00,0.82:60,60:11.3,57.0:0,0:0,0:66,33:85,118:17,27:-,NM_032682.5(FOXP1) c.180+435G>A:-,0.24:-,NOT_FOUND 3 71247220 . C . . NT END=71247352;NT GT ./. 3 71247533 . G . . NT END=71629971;NT GT ./. 3 71247576 rs9855825 A T 96 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=NA;Gene=FOXP1/NM_001244814.1/0;CC=c.-11-33T>A;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.-11-33T>A;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.-11-33T>A;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.-11-33T>A;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.-11-33T>A;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.-11-33T>A;VC=Intron;Gene=FOXP1/NM_001012505.1/0;CC=c.-11-33T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G,T:37:24:0:2:2,35:33,809:1.93,96.36:0.32,58.17:1.62,38.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.5,38.2:0,0:0,0:79,121:66,25:59,21:NM_032682.5(FOXP1) c.-11-33T>A,NM_032682.5(FOXP1) c.-11-33T>A:0.72,0.72:0.663618,0.663618 3 71257687 rs201471711 T TTCTGTGTGTG 15 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=12;NP=48;NP=8;PC=0.766;Gene=FOXP1/NM_001244814.1/0;CC=c.-11-10145_-11-10144insCACACACAGA;VC=Intron;Gene=FOXP1/NM_001244812.1/0;CC=c.-11-10145_-11-10144insCACACACAGA;VC=Intron;Gene=FOXP1/NM_001244816.1/0;CC=c.-11-10145_-11-10144insCACACACAGA;VC=Intron;Gene=FOXP1/NM_001244808.1/0;CC=c.-11-10145_-11-10144insCACACACAGA;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.-11-10145_-11-10144insCACACACAGA;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.-11-10145_-11-10144insCACACACAGA;VC=Intron;Gene=FOXP1/NM_001012505.1/0;CC=c.-11-10145_-11-10144insCACACACAGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TTCTGTGTGTG:4:1:4:0:4:127:14.61:1.89:12.72:1.00:1.00:1.00:70:12.2:0:0:76:74:22:NM_032682.5(FOXP1) c.-11-10145_-11-10144insCACACACAGA,NM_032682.5(FOXP1) c.-11-10145_-11-10144insCACACACAGA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 71630093 . G . . NT END=71630386;NT GT ./. 3 71630929 . G . . NT END=71631207;NT GT ./. 3 71631364 . G . . NT END=71631613;NT GT ./. 3 71631941 . G . . NT END=71632655;NT GT ./. 3 71632074 rs830600 T C 101 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.002796,C/0.9972;NP=28;PC=0.028;Gene=FOXP1/NM_001244808.1/0;CC=c.-447+648A>G;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.-447+987A>G;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.-447+987A>G;VC=Intron;Gene=FOXP1/NM_001012505.1/0;CC=c.-447+987A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:C:27:0:0:0:27:883:101.17:0.00:101.17:1.00:0.00:1.00:60:42.9:0:0:116:34:26:NM_032682.5(FOXP1) c.-447+987A>G,NM_032682.5(FOXP1) c.-447+987A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 71632577 rs61675522 G GT 21 rn VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=26;PC=0.019;Gene=FOXP1/NM_001244808.1/0;CC=c.-447+144_-447+145insA;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.-447+483_-447+484insA;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.-447+483_-447+484insA;VC=Intron;Gene=FOXP1/NM_001012505.1/0;CC=c.-447+483_-447+484insA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:139:G,GT:68:67:9:0:59,9:1969,278:0.00,20.56:0.00,16.26:0.00,4.30:0.00,0.97:0.00,1.00:0.00,0.82:60,60:46.7,56.4:0,0:0,0:72,58:53,54:41,47:-,NM_032682.5(FOXP1) c.-447+483_-447+484insA:-,NOT_FOUND:-,NOT_FOUND 3 71632616 . C CT 23 idl,rn VT=INS;SST=Single;DP=119;NP=1;NP=1;NP=2;PC=0.081;Gene=FOXP1/NM_001244808.1/0;CC=c.-447+105_-447+106insA;VC=Intron;Gene=FOXP1/NM_001244810.1/0;CC=c.-447+444_-447+445insA;VC=Intron;Gene=FOXP1/NM_032682.5/1;CC=c.-447+444_-447+445insA;VC=Intron;Gene=FOXP1/NM_001012505.1/0;CC=c.-447+444_-447+445insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:58:C,G,T,CT,D:115:96:12:13:90,2,4,10,9:2763,22,63,384,335:0.00,-0.27,1.81,22.80,18.00:0.00,-0.19,1.89,12.24,13.45:0.00,-0.08,-0.08,10.56,4.55:0.00,0.00,0.00,0.97,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.98,0.00:60,60,60,60,70:39.6,97.5,24.0,39.0,44.1:0,0,2,2,2:0,0,0,0,0:32,77,115,47,23:109,48,15,88,124:19,23,13,13,11:-,NM_032682.5(FOXP1) c.-447+444_-447+445insA:-,NOT_FOUND:-,NOT_FOUND 3 71633155 rs534653828 TC T 9 rn VT=DEL;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.001;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:39:A,C,TC,T:43:13:0:4:2,2,35,4:21,20,839,124:0.04,-0.03,0.00,8.72:-0.18,-0.18,0.00,5.64:0.22,0.16,0.00,3.08:0.00,0.00,0.00,0.58:0.00,0.00,0.00,0.63:0.00,0.00,0.00,0.89:60,60,60,60:70.5,69.5,27.0,2.8:0,0,0,0:0,0,0,0:6,86,54,64:143,46,88,80:0,50,34,7:-,NM_032682.5(FOXP1) c.-526-u16delG:-,NOT_FOUND:-,NOT_FOUND 3 71633190 . G . . NT END=71733832;NT GT ./. 3 71733880 . C . . NT END=71739160;NT GT ./. 3 71735694 . AGT A 10 rn VT=DEL;SST=Single;DP=4;NP=48;PC=0.010;Gene=EIF4E3/NM_001134651.1/0;CC=c.629-1817_629-1816delAC;VC=Intron;Gene=EIF4E3/NM_001134650.1/0;CC=c.311-1817_311-1816delAC;VC=Intron;Gene=EIF4E3/NM_001282886.1/0;CC=c.311-1817_311-1816delAC;VC=Intron;Gene=EIF4E3/NM_001134649.2/0;CC=c.311-1817_311-1816delAC;VC=Intron;Gene=EIF4E3/NM_173359.4/1;CC=c.311-1817_311-1816delAC;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:AGT,A:4:1:0:4:1,3:11,94:0.00,9.89:0.00,1.83:0.00,8.06:0.00,0.85:0.00,0.83:0.00,0.85:60,60:69.0,0.0:0,0:0,0:92,45:59,106:0,20:-,NM_001134651.1(EIF4E3) c.629-1817_629-1816delAC:-,NOT_FOUND:-,NOT_FOUND 3 71739005 rs553175855 T TA 14 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.996,A/0.003994;NP=3;Gene=EIF4E3/NM_001134651.1/0;CC=c.628+155_628+156insT;VC=Intron;Gene=EIF4E3/NM_001134650.1/0;CC=c.310+155_310+156insT;VC=Intron;Gene=EIF4E3/NM_001282886.1/0;CC=c.310+155_310+156insT;VC=Intron;Gene=EIF4E3/NM_001134649.2/0;CC=c.310+155_310+156insT;VC=Intron;Gene=EIF4E3/NM_173359.4/1;CC=c.310+155_310+156insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:143:T,TA,D:16:16:5:1:10,5,1:326,156,27:0.00,13.83,1.70:0.00,13.83,1.70:0.00,0.00,0.00:0.00,0.88,0.00:0.00,0.88,0.00:0.00,0.00,0.00:60,70,60:20.6,21.8,198.0:0,0,0:0,0,0:46,40,9:101,111,141:28,37,0:-,NM_001134651.1(EIF4E3) c.628+155_628+156insT:-,NOT_FOUND:-,NOT_FOUND 3 71739317 . C . . NT END=71743025;NT GT ./. 3 71743093 . C . . NT END=71745610;NT GT ./. 3 71745672 . C . . NT END=71748764;NT GT ./. 3 71748860 . C . . NT END=71759562;NT GT ./. 3 71759636 . C . . NT END=71774342;NT GT ./. 3 71774519 . T . . NT END=71803200;NT GT ./. 3 71804329 . G . . NT END=71821874;NT GT ./. 3 71821710 . TA T 10 rn VT=DEL;SST=Single;DP=11;NP=29;Gene=PROK2/NM_001126128.1/1;CC=c.*164delT;VC=3UTR;Gene=PROK2/NM_021935.3/0;CC=c.*164delT;VC=3UTR;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:TA,I,T:11:11:1:4:6,1,4:128,28,110:0.00,1.99,10.00:0.00,1.99,10.00:0.00,0.00,0.00:0.00,0.00,0.82:0.00,0.00,0.82:0.00,0.00,0.00:60,60,70:28.3,10.0,24.2:0,0,0:0,0,0:54,2,65:92,149,82:38,0,22:-,NM_001126128.1(PROK2) c.*150T[14]:-,NOT_FOUND:-,NOT_FOUND 3 71821980 . C . . NT END=71823595;NT GT ./. 3 71823659 . C . . NT END=71830617;NT GT ./. 3 71830744 . C . . NT END=71834107;NT GT ./. 3 71834204 . G . . NT END=72427322;NT GT ./. 3 71987050 rs9824602 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5859,G/0.4141 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:55.8:0:0:61:89:28:chr3 g.71987049A>G (intergenic),chr3 g.71987049A>G (intergenic):0.43,0.43:NOT_FOUND,NOT_FOUND 3 71987258 rs9880789 C T 12 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1655,T/0.8345 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:1:0:0:4:106:12.45:1.94:10.51:1.00:1.00:1.00:60:34.5:0:0:69:81:18:chr3 g.71987257C>T (intergenic),chr3 g.71987257C>T (intergenic):0.86,0.86:NOT_FOUND,NOT_FOUND 3 72018067 rs371319649 G GAC 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:GAC:2:3:4:0:2:123:6.85:5.06:1.79:0.51:0.89:0.79:70:94.0:2:0:70:80:32:chr3 g.72018067_72018068insAC (intergenic),chr3 g.72018067_72018068insAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 72018083 rs4458340 A C 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:5:0:0:6:191:21.96:13.02:8.94:1.00:1.00:1.00:60:45.0:0:0:56:93:36:chr3 g.72018082A>C (intergenic),chr3 g.72018082A>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 72035013 rs200694440 AACACAC A 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=17;PC=0.014;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:5:4:155:13.62:9.25:4.37:0.96:1.00:0.97:70:4.8:1:0:45:101:20:chr3 g.72035014_72035019delACACAC (intergenic),chr3 g.72035014_72035019delACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 72364672 rs55791686 T TACACACACAC 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4425,TACACAC/.,TACACACAC/0.5575;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=5;NP=5;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:T,TACACACACAC:4:4:3:0:1,3:31,97:0.00,10.15:0.00,8.23:0.00,1.93:0.00,0.85:0.00,0.85:0.00,0.83:60,60:44.0,26.7:0,0:0,0:123,75:27,76:0,0:-,chr3 g.72364672_72364673insACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 72427252 rs397723430 A AT 28 rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.1342,AT/0.8658;DB;DBA=NA;PAF=A/0.1342,AT/0.8658;NP=8;PC=1.000;Gene=RYBP/NM_012234.6/1;CC=c.*283_*284insA;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:19:20:10:0:10,9:246,328:0.00,28.11:0.00,28.24:0.00,-0.13:0.00,1.00:0.00,1.00:0.00,0.63:60,60:46.2,13.7:1,1:0,0:77,31:73,119:59,14:-,NM_012234.5(RYBP) c.*283dupA:-,NOT_FOUND:-,NOT_FOUND 3 72427789 . C . . NT END=72428190;NT GT ./. 3 72428290 . C . . NT END=72428401;NT GT ./. 3 72428524 . G . . NT END=72799467;NT GT ./. 3 72495945 rs13088771 A G 14 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.01597,G/0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:119:13.81:13.81:0.00:1.00:1.00:0.00:60:44.5:0:0:50:100:9:NM_012234.5(RYBP) c.-183-u171T>C,NM_012234.5(RYBP) c.-183-u171T>C:0.99,0.99:NOT_FOUND,NOT_FOUND 3 72799703 rs35178407 C T 415 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=111;DB;DBA=NA;PAF=C/0.7081,T/0.2919;Gene=SHQ1/NM_018130.2/1;CC=c.1466G>A;ProtCh=p.S489N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:111:70:0:0:111:3624:415.29:214.28:201.01:1.00:1.00:1.00:60:41.4:0:0:83:68:39:NM_018130.2(SHQ1) c.1466G>A (p.Ser489Asn),NM_018130.2(SHQ1) c.1466G>A (p.Ser489Asn):0.28,0.28:0.374596,0.374596 3 72799988 . C . . NT END=72802114;NT GT ./. 3 72802799 . C . . NT END=72842066;NT GT ./. 3 72841935 rs59948195 C CA 18 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=1;PC=0.005;Gene=SHQ1/NM_018130.2/1;CC=c.1181+131_1181+132insT;VC=Intron;DM=SHQ1/SHQ1;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:C,CA,D:19:21:8:2:11,6,2:330,263,67:0.00,17.60,5.14:0.00,17.60,5.14:0.00,0.00,0.00:0.00,0.93,0.00:0.00,0.93,0.00:0.00,0.00,0.00:60,60,60:30.1,64.8,5.0:0,2,0:0,0,0:95,25,39:28,125,112:28,20,22:-,NM_018130.2(SHQ1) c.1181+131_1181+132insT:-,NOT_FOUND:-,NOT_FOUND 3 72842188 . C . . NT END=72861821;NT GT ./. 3 72861946 . C . . NT END=72864500;NT GT ./. 3 72864555 . C . . NT END=72866380;NT GT ./. 3 72866536 . C . . NT END=72873574;NT GT ./. 3 72873703 . C . . NT END=72881519;NT GT ./. 3 72873809 rs6786469 A G 102 nt VT=SNV;PN=C;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.845,G/0.155;PC=0.002;Gene=SHQ1/NM_018130.2/1;CC=c.600-107T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:G:27:4:0:0:27:889:101.76:9.49:92.27:1.00:1.00:1.00:60:34.9:0:0:87:64:34:NM_018130.2(SHQ1) c.600-107T>C,NM_018130.2(SHQ1) c.600-107T>C:0.17,0.17:NOT_FOUND,NOT_FOUND 3 72873938 . C CTT 8 idl,rn VT=INS;SST=Single;DP=7;NP=1;NP=2;NP=3;PC=0.188;Gene=SHQ1/NM_018130.2/1;CC=c.600-237_600-236insAA;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:C,CTT:5:1:5:0:2,3:47,138:0.00,8.14:0.00,3.41:0.00,4.73:0.00,0.69:0.00,0.62:0.00,0.95:60,60:41.0,21.3:0,2:0,0:148,30:3,109:1,22:-,NM_018130.2(SHQ1) c.600-237_600-236insAA:-,NOT_FOUND:-,NOT_FOUND 3 72881633 . C . . NT END=72890195;NT GT ./. 3 72890351 . C . . NT END=72891430;NT GT ./. 3 72891547 rs78491606 A C 123 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.9958,C/0.004193;PC=1.000;Gene=SHQ1/NM_018130.2/1;CC=c.215T>G;ProtCh=p.F72C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:62:35:0:0:25,37:766,1237:0.00,123.19:0.00,41.42:0.00,81.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.0,37.1:0,0:0,0:94,84:55,61:35,26:-,NM_018130.2(SHQ1) c.215T>G (p.Phe72Cys):-,0.01:-,0.013532 3 72891554 . C . . NT END=72893509;NT GT ./. 3 72893575 . C . . NT END=72895365;NT GT ./. 3 72895345 rs1502754 G T 204 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.7915,T/0.2085;Gene=SHQ1/NM_018130.2/1;CC=c.144-1771C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:157:T:56:50:0:0:56:1774:203.97:158.36:45.60:1.00:1.00:1.00:70:40.8:0:0:53:91:30:NM_018130.2(SHQ1) c.144-1771C>A,NM_018130.2(SHQ1) c.144-1771C>A:0.21,0.21:NOT_FOUND,NOT_FOUND 3 72895449 . C CT 38 idl,rn VT=INS;SST=Single;DP=89;NP=1;PC=0.035;Gene=SHQ1/NM_018130.2/1;CC=c.144-1876_144-1875insA;VC=Intron;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:148:C,T,CT,D:81:58:19:14:55,1,15,10:1833,12,579,461:0.00,-0.09,37.65,26.03:0.00,-0.12,12.99,11.73:0.00,0.03,24.67,14.30:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:24.7,101.0,39.3,14.6:0,0,4,4:0,0,0,0:93,51,59,74:36,100,84,72:26,0,25,10:-,NM_018130.2(SHQ1) c.144-1876_144-1875insA:-,NOT_FOUND:-,NOT_FOUND 3 72895509 . a . . NT END=72897348;NT GT ./. 3 72897548 . C . . NT END=72937384;NT GT ./. 3 72925997 rs7640629 C T 24 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.8079,T/0.1921;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:9:0:0:10,8:304,260:0.00,24.45:0.00,12.79:0.00,11.66:0.00,0.99:0.00,0.85:0.00,1.00:60,60:8.7,34.4:0,0:0,0:89,57:61,94:35,41:-,chr3 g.72925996C>T (intergenic):-,0.21:-,NOT_FOUND 3 72926390 rs7610496 A G 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.7085,G/0.2915;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:6:0:0:11,10:366,309:0.00,29.36:0.00,10.87:0.00,18.49:0.00,1.00:0.00,0.97:0.00,1.00:60,60:0.0,30.9:0,0:0,0:72,90:77,61:44,33:-,chr3 g.72926389A>G (intergenic):-,0.28:-,NOT_FOUND 3 72933767 rs6805260 C T 14 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8454,T/0.1546 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:6:0:0:0:2,4:66,135:0.00,13.75:0.00,0.00:0.00,13.75:0.00,0.93:0.00,0.00:0.00,0.93:60,60:0.0,33.8:0,0:0,0:102,116:48,34:4,17:-,NM_001080393.1(GXYLT2) c.1-u3618C>T:-,0.19:-,NOT_FOUND 3 72937660 . G . . NT END=72957517;NT GT ./. 3 72957711 . G . . NT END=72971354;NT GT ./. 3 72971487 . G . . NT END=73004248;NT GT ./. 3 72971686 rs62249904 G A 8 end,nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7368,A/0.2632;PC=0.046;Gene=GXYLT2/NM_001080393.1/1;CC=c.600+200G>A;VC=Intron;DM=GXYLT2/Glyco_transf_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:10:0:0:0:3,7:95,240:8.28,0.00:0.00,0.00:8.28,0.00:0.62,0.00:0.00,0.00:0.62,0.00:60,60:31.7,11.9:0,0:0,0:147,73:4,77:2,41:NM_001080393.1(GXYLT2) c.600+200G>A,-:0.27,-:NOT_FOUND,- 3 72978053 rs4677209 A T 22 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5022,T/0.4978;PC=1.000;Gene=GXYLT2/NM_001080393.1/1;CC=c.600+6567A>T;VC=Intron;DM=GXYLT2/Glyco_transf_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,T:9:9:0:0:2,7:68,207:0.00,21.92:0.00,20.08:0.00,1.83:0.00,1.00:0.00,1.00:0.00,0.85:60,60:0.0,62.4:0,0:0,0:73,56:78,95:12,21:-,NM_001080393.1(GXYLT2) c.600+6567A>T:-,0.51:-,NOT_FOUND 3 72978516 rs200994902 G GA 7 rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;NP=3;PC=1.000;Gene=GXYLT2/NM_001080393.1/1;CC=c.600+7039dupA;VC=Intron;DM=GXYLT2/Glyco_transf_8;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,T,GA:31:15:3:0:27,1,3:900,10,94:0.00,-0.12,6.60:0.00,-0.14,7.35:0.00,0.02,-0.75:0.00,0.00,0.42:0.00,0.00,0.69:0.00,0.00,0.77:60,60,60:11.3,33.0,11.7:0,0,0:0,0,0:75,3,47:74,148,103:41,0,23:-,NM_001080393.1(GXYLT2) c.600+7030_600+7031insA:-,0.01:-,NOT_FOUND 3 73004057 rs4455270 T C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.4181,C/0.5819;PC=0.001;Gene=GXYLT2/NM_001080393.1/1;CC=c.601-192T>C;VC=Intron;DM=GXYLT2/Glyco_transf_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:129:C,T:12:12:0:0:4,8:135,255:12.09,0.00:12.09,0.00:0.00,0.00:0.80,0.00:0.80,0.00:0.00,0.00:60,60:74.0,1.4:0,0:0,0:30,37:120,113:15,24:NM_001080393.1(GXYLT2) c.601-192T>C,-:0.55,-:NOT_FOUND,- 3 73004157 rs1532190 T G 58 nt VT=SNV;PN=T;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.7242,G/0.2758;Gene=GXYLT2/NM_001080393.1/1;CC=c.601-92T>G;VC=Intron;DM=GXYLT2/Glyco_transf_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:44:43:0:0:19,25:617,797:57.67,0.00:49.43,0.00:8.24,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:49.7,11.9:0,0:0,0:27,49:123,101:18,27:NM_001080393.1(GXYLT2) c.601-92T>G,-:0.29,-:NOT_FOUND,- 3 73004501 . G . . NT END=73006379;NT GT ./. 3 73006504 . G . . NT END=73016697;NT GT ./. 3 73016635 rs3732442 C G 41 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.3902,G/0.6098;Gene=GXYLT2/NM_001080393.1/1;CC=c.977-63C>G;VC=Intron;DM=GXYLT2/Glyco_transf_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:41:37:0:0:26,15:870,459:0.00,41.34:0.00,40.51:0.00,0.83:0.00,1.00:0.00,1.00:0.00,0.94:60,60:3.3,39.5:0,0:0,0:37,43:106,108:25,20:-,NM_001080393.1(GXYLT2) c.977-63C>G:-,0.62:-,NOT_FOUND 3 73016871 . G . . NT END=73024127;NT GT ./. 3 73016974 rs3821379 A G 22 nt VT=SNV;PN=T;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.3924,G/0.6076;Gene=GXYLT2/NM_001080393.1/1;CC=c.1149+104A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:27:1:0:0:19,8:647,256:0.00,22.30:0.00,-0.08:0.00,22.37:0.00,0.98:0.00,0.53:0.00,0.98:60,60:10.3,36.1:0,0:0,0:75,122:76,29:36,18:-,NM_001080393.1(GXYLT2) c.1149+104A>G:-,0.61:-,NOT_FOUND 3 73023934 rs7610684 G A 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.1264,A/0.8736;Gene=GXYLT2/NM_001080393.1/1;CC=c.1150-194G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:23:A,G:6:6:0:0:5,1:156,32:16.81,0.00:14.86,0.00:1.95,0.00:0.99,0.00:0.99,0.00:0.89,0.00:60,60:38.2,0.0:0,0:0,0:36,35:115,116:15,0:NM_001080393.1(GXYLT2) c.1150-194G>A,-:0.84,-:NOT_FOUND,- 3 73024311 . A . . NT END=73046188;NT GT ./. 3 73024350 rs1052278 C A 48 nt VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.4453,A/0.5547;Gene=GXYLT2/NM_001080393.1/1;CC=c.*40C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:35:11:0:0:17,18:503,545:47.84,0.00:11.46,0.00:36.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,5.9:0,0:0,0:100,91:43,51:28,19:NM_001080393.1(GXYLT2) c.*40C>A,-:0.56,-:0.601767,- 3 73045888 rs13082210 G A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8193,A/0.1807;PC=0.993 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:135:15.41:15.41:0.00:1.00:1.00:0.00:60:49.5:0:0:19:132:11:NM_174907.2(PPP4R2) c.-70-u231G>A,NM_174907.2(PPP4R2) c.-70-u231G>A:0.19,0.19:NOT_FOUND,NOT_FOUND 3 73046223 . G . . NT END=73047227;NT GT ./. 3 73046508 rs9834246 G C 9 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4253,C/0.5747;Gene=PPP4R2/NM_174907.2/1;CC=c.34+286G>C;VC=Intron;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:C,G:4:0:0:0:3,1:86,27:9.05,0.00:0.00,0.00:9.05,0.00:0.85,0.00:0.00,0.00:0.85,0.00:60,60:99.0,0.0:0,0:0,0:109,148:42,3:11,0:NM_174907.2(PPP4R2) c.34+286G>C,-:0.53,-:NOT_FOUND,- 3 73047310 . G . . NT END=73096336;NT GT ./. 3 73077214 rs6784953 C G 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6941,G/0.3059;PC=0.007;Gene=PPP4R2/NM_174907.2/1;CC=c.117-19123C>G;VC=Intron;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,G:4:1:0:0:1,3:36,103:0.00,10.75:0.00,-0.30:0.00,11.05:0.00,0.85:0.00,0.83:0.00,0.85:60,60:0.0,57.7:0,0:0,0:101,15:50,136:0,0:-,NM_174907.2(PPP4R2) c.117-19123C>G:-,0.3:-,NOT_FOUND 3 73096508 . G . . NT END=73108187;NT GT ./. 3 73096591 rs71277513 A ATAAT 32 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.4804,ATAAT/0.5196;NP=1224;Gene=PPP4R2/NM_174907.2/1;CC=c.287+85_287+86insAATT;VC=Intron;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATAAT:21:4:11:0:10,11:286,330:0.00,31.95:0.00,5.73:0.00,26.22:0.00,1.00:0.00,0.95:0.00,1.00:60,70:9.5,19.8:0,0:0,0:86,128:64,22:34,7:-,NM_174907.2(PPP4R2) c.287+84_287+85insTAAT:-,NOT_FOUND:-,NOT_FOUND 3 73108282 . G . . NT END=73110173;NT GT ./. 3 73110076 rs726029 G A 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.4822,A/0.5178;Gene=PPP4R2/NM_174907.2/1;CC=c.382-98G>A;VC=Intron;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:16:14:0:0:5,11:143,361:12.36,0.00:9.69,0.00:2.67,0.00:0.88,0.00:0.99,0.00:0.93,0.00:60,60:32.0,4.5:0,0:0,0:20,50:131,101:15,29:NM_174907.2(PPP4R2) c.382-98G>A,-:0.48,-:NOT_FOUND,- 3 73110212 . G . . NT END=73111232;NT GT ./. 3 73111053 rs2231923 A G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6232,G/0.3768;Gene=PPP4R2/NM_174907.2/1;CC=c.419+842A>G;VC=Intron;Gene=EBLN2/NM_018029.4/1;CC=c.-180A>G;VC=5UTR;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:5:5:0:0:2,3:64,101:0.00,10.07:0.00,10.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:0.0,47.0:0,0:0,0:21,21:129,130:2,7:-,NM_018029.3(EBLN2) c.-180A>G:-,0.35:-,NOT_FOUND 3 73111368 rs2231924 T C 106 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=88;DB;DBA=NA;PAF=T/0.4734,C/0.5266;PC=0.005;Gene=PPP4R2/NM_174907.2/1;CC=c.419+1157T>C;VC=Intron;Gene=EBLN2/NM_018029.4/1;CC=c.136T>C;ProtCh=p.S46P;VC=Missense;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:88:74:0:0:35,53:1154,1720:106.39,0.00:88.90,0.00:17.49,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,2.6:0,0:0,0:68,68:83,83:34,41:NM_018029.3(EBLN2) c.136T>C (p.Ser46Pro),-:0.49,-:0.547038,- 3 73111809 rs2231926 A G 144 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=114;DB;DBA=NA;PAF=A/0.4738,G/0.5262,T/.;PC=0.001;Gene=PPP4R2/NM_174907.2/1;CC=c.420-1015A>G;VC=Intron;Gene=EBLN2/NM_018029.4/1;CC=c.577A>G;ProtCh=p.I193V;VC=Missense;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=EBLN2/BDV_P40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:114:73:0:0:64,50:2041,1538:0.00,143.61:0.00,66.63:0.00,76.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,41.0:0,0:0,0:69,75:81,73:42,36:-,NM_018029.3(EBLN2) c.577A>G (p.Ile193Val):-,0.49:-,0.551719 3 73111973 rs2231928 A G 125 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.3852,G/0.6148;PC=0.006;Gene=PPP4R2/NM_174907.2/1;CC=c.420-851A>G;VC=Intron;Gene=EBLN2/NM_018029.4/1;CC=c.741A>G;ProtCh=p.P247=;VC=Silent;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=EBLN2/BDV_P40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:92:45:0:0:51,41:1698,1329:0.00,124.94:0.00,38.00:0.00,86.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,63.3:0,0:0,0:95,71:54,78:34,33:-,NM_018029.3(EBLN2) c.=:-,0.57:-,0.617836 3 73111998 rs1060584 C T 113 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.474,T/0.526;PC=0.005;Gene=PPP4R2/NM_174907.2/1;CC=c.420-826C>T;VC=Intron;Gene=EBLN2/NM_018029.4/1;CC=c.766C>T;ProtCh=p.L256F;VC=Missense;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;DM=EBLN2/BDV_P40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:81:34:0:0:43,38:1470,1197:0.00,113.48:0.00,24.15:0.00,89.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,66.8:0,0:0,0:104,73:43,71:34,25:-,NM_018029.3(EBLN2) c.766C>T (p.Leu256Phe):-,0.49:-,0.549843 3 73112052 . T . . NT END=73112823;NT GT ./. 3 73112899 . G . . NT END=73113153;NT GT ./. 3 73112919 rs397937221 T TA 18 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4872,TA/0.5128;DB;DBA=NA;PAF=T/0.4872,TA/0.5128;NP=2504;PC=0.009;Gene=PPP4R2/NM_174907.2/1;CC=c.494+22dupA;VC=Intron;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,TA:23:14:7:0:1,15,7:11,464,211:0.10,0.00,18.46:0.27,0.00,11.80:-0.16,0.00,6.66:0.00,0.00,0.97:0.00,0.00,0.98:0.00,0.00,0.98:60,60,60:27.0,10.9,23.7:0,0,0:0,0,0:122,124,104:29,27,47:0,22,36:-,NM_174907.2(PPP4R2) c.494+21_494+22insA:-,0.48:-,0.529802 3 73112974 rs11708712 A T 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.474,T/0.526;Gene=PPP4R2/NM_174907.2/1;CC=c.494+76A>T;VC=Intron;DM=PPP4R2/PPP4R2;DM=PPP4R2/PPP4R2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:22:10:0:0:13,9:412,280:0.00,25.83:0.00,15.80:0.00,10.02:0.00,1.00:0.00,0.99:0.00,0.99:60,60:10.2,42.6:0,0:0,0:79,45:72,106:40,36:-,NM_174907.2(PPP4R2) c.494+76A>T:-,0.49:-,NOT_FOUND 3 73113298 . G . . NT END=73114002;NT GT ./. 3 73114293 . G . . NT END=73114547;NT GT ./. 3 73114874 . C . . NT END=73432515;NT GT ./. 3 73232243 rs200520484 CA C 51 nt VT=DEL;SST=Single;DP=28;DB;DBA=NA;PAF=CA/0.9918,C/0.008187;NP=47;PC=0.995;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CA,C:28:16:0:17:11,17:375,513:0.00,51.25:0.00,19.27:0.00,31.98:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.1,15.5:0,0:0,0:90,93:43,58:27,29:-,chr3 g.73232244delA (intergenic):-,0.01:-,NOT_FOUND 3 73294692 rs9310265 T TACAC 7 idl,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=165;NP=2;NP=30;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:T,TACAC:3:6:5:0:1,2:34,167:0.00,6.62:0.00,6.56:0.00,0.06:0.00,0.42:0.00,0.42:0.00,0.86:45,60:33.0,54.5:0,3:0,0:102,34:31,83:0,15:-,chr3 g.73294692_73294693insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 73297010 . ACG G,A 11 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;NP=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:7:G,A:5:3:0:1:4,1:96,13:11.05,1.09:4.94,0.00:6.11,1.09:0.96,0.00:0.99,0.00:1.00,0.00:60,60:67.2,124.0:0,0:0,0:78,66:63,67:43,0:chr3 g.73297010_73297011delAC (intergenic),chr3 g.73297011_73297012delCG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 73297035 rs649822 T C 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2047,C/0.7953;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:0:4:112:13.10:3.43:9.68:1.00:1.00:1.00:60:122.0:0:0:96:45:11:chr3 g.73297034T>C (intergenic),chr3 g.73297034T>C (intergenic):0.83,0.83:NOT_FOUND,NOT_FOUND 3 73380797 rs56351846 TACACAC T 10 idl,rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=168;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TACACAC,T:4:7:0:6:1,3:33,178:0.00,9.88:0.00,5.69:0.00,4.19:0.00,0.69:0.00,0.69:0.00,0.93:8,60:0.0,32.7:0,3:0,0:12,82:36,60:0,14:-,chr3 g.73380798_73380803delACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 73433369 rs3205537 G A 461 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=G/0.7276,A/0.2724;PC=0.716;Gene=PDZRN3/NM_001303142.1/0;CC=c.1499C>T;ProtCh=p.A500V;VC=Missense;Gene=PDZRN3/NM_001303141.1/0;CC=c.1514C>T;ProtCh=p.A505V;VC=Missense;Gene=PDZRN3/NM_001303140.1/0;CC=c.1319C>T;ProtCh=p.A440V;VC=Missense;Gene=PDZRN3/NM_001303139.1/0;CC=c.1442C>T;ProtCh=p.A481V;VC=Missense;Gene=PDZRN3/NM_015009.2/1;CC=c.2348C>T;ProtCh=p.A783V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C,G:132:89:0:0:130,1,1:4015,9,16:460.60,0.06,0.00:258.84,0.00,0.00:201.76,0.06,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.4,36.0,62.0:0,0,0:0,0,0:75,99,138:74,51,13:36,0,0:NM_015009.1(PDZRN3) c.2348C>T (p.Ala783Val),NM_015009.1(PDZRN3) c.2348C>T (p.Ala783Val):0.32,0.32:0.25519,0.25519 3 73433494 rs13091636 T C 596 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=167;DB;DBA=NA;PAF=T/0.6418,A/.,C/0.3582;Gene=PDZRN3/NM_001303142.1/0;CC=c.1374A>G;ProtCh=p.S458=;VC=Silent;Gene=PDZRN3/NM_001303141.1/0;CC=c.1389A>G;ProtCh=p.S463=;VC=Silent;Gene=PDZRN3/NM_001303140.1/0;CC=c.1194A>G;ProtCh=p.S398=;VC=Silent;Gene=PDZRN3/NM_001303139.1/0;CC=c.1317A>G;ProtCh=p.S439=;VC=Silent;Gene=PDZRN3/NM_015009.2/1;CC=c.2223A>G;ProtCh=p.S741=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:167:127:0:0:167:5169:596.24:370.84:225.41:1.00:1.00:1.00:60:41.9:0:0:67:80:36:NM_015009.1(PDZRN3) c.2223A>G (p.(=)),NM_015009.1(PDZRN3) c.2223A>G (p.(=)):0.41,0.41:0.363448,0.363448 3 73434082 . C . . NT END=73434819;NT GT ./. 3 73434937 . C . . NT END=73437118;NT GT ./. 3 73437112 rs6549532 A G 86 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.2177,G/0.7823;PC=0.004;Gene=PDZRN3/NM_001303142.1/0;CC=c.669+7T>C;VC=Intron;Gene=PDZRN3/NM_001303141.1/0;CC=c.684+7T>C;VC=Intron;Gene=PDZRN3/NM_001303140.1/0;CC=c.489+7T>C;VC=Intron;Gene=PDZRN3/NM_001303139.1/0;CC=c.612+7T>C;VC=Intron;Gene=PDZRN3/NM_015009.2/1;CC=c.1518+7T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:20:0:0:24:746:86.03:59.19:26.84:1.00:1.00:1.00:70:40.0:0:0:42:105:21:NM_015009.1(PDZRN3) c.1518+7T>C,NM_015009.1(PDZRN3) c.1518+7T>C:0.8,0.8:0.749346,0.749346 3 73437221 . C . . NT END=73438966;NT GT ./. 3 73437225 rs76063873 T TA 64 rn VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2102;NP=4;NP=46;PC=0.038;Gene=PDZRN3/NM_001303142.1/0;CC=c.568-6dupT;VC=Intron;Gene=PDZRN3/NM_001303141.1/0;CC=c.583-6dupT;VC=Intron;Gene=PDZRN3/NM_001303140.1/0;CC=c.388-6dupT;VC=Intron;Gene=PDZRN3/NM_001303139.1/0;CC=c.511-6dupT;VC=Intron;Gene=PDZRN3/NM_015009.2/1;CC=c.1417-6dupT;VC=Intron;DM=PDZRN3/PDZ;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:95:T,TA:24:17:20:0:5,19:130,637:0.00,64.16:0.00,30.51:0.00,33.65:0.00,1.00:0.00,1.00:0.00,1.00:60,70:35.4,26.1:0,1:0,0:143,100:8,50:4,27:-,NM_015009.1(PDZRN3) c.1417-6_1417-5insT:-,NOT_FOUND:-,NOT_FOUND 3 73437401 rs3912295 A G 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3924,G/0.6076;PC=0.001;Gene=PDZRN3/NM_001303142.1/0;CC=c.568-181T>C;VC=Intron;Gene=PDZRN3/NM_001303141.1/0;CC=c.583-181T>C;VC=Intron;Gene=PDZRN3/NM_001303140.1/0;CC=c.388-181T>C;VC=Intron;Gene=PDZRN3/NM_001303139.1/0;CC=c.511-181T>C;VC=Intron;Gene=PDZRN3/NM_015009.2/1;CC=c.1417-181T>C;VC=Intron;DM=PDZRN3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:158:18.18:0.00:18.18:1.00:0.00:1.00:60:59.0:0:0:69:82:31:NM_015009.1(PDZRN3) c.1417-181T>C,NM_015009.1(PDZRN3) c.1417-181T>C:0.65,0.65:NOT_FOUND,NOT_FOUND 3 73439030 . C . . NT END=73440168;NT GT ./. 3 73440108 rs72581442 G GA 55 idl,rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=856;Gene=PDZRN3/NM_001303142.1/0;CC=c.504+60dupT;VC=Intron;Gene=PDZRN3/NM_001303141.1/0;CC=c.519+60dupT;VC=Intron;Gene=PDZRN3/NM_001303140.1/0;CC=c.324+60dupT;VC=Intron;Gene=PDZRN3/NM_001303139.1/0;CC=c.447+60dupT;VC=Intron;Gene=PDZRN3/NM_015009.2/1;CC=c.1353+60dupT;VC=Intron;DM=PDZRN3/PDZ;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GA:18:21:19:0:2,16:67,585:0.00,54.69:0.00,49.20:0.00,5.49:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,17.7:0,3:0,0:20,38:129,113:18,26:-,NM_015009.1(PDZRN3) c.1353+60_1353+61insT:-,NOT_FOUND:-,NOT_FOUND 3 73440268 . C . . NT END=73450072;NT GT ./. 3 73450161 . C . . NT END=73453298;NT GT ./. 3 73453201 rs2291464 C T 111 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.3411,T/0.6589;PC=0.837;Gene=PDZRN3/NM_001303142.1/0;CC=c.317+98G>A;VC=Intron;Gene=PDZRN3/NM_001303141.1/0;CC=c.332+98G>A;VC=Intron;Gene=PDZRN3/NM_001303140.1/0;CC=c.137+98G>A;VC=Intron;Gene=PDZRN3/NM_001303139.1/0;CC=c.260+98G>A;VC=Intron;Gene=PDZRN3/NM_015009.2/1;CC=c.1166+98G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:T:32:32:0:0:32:960:111.07:107.24:3.83:1.00:1.00:1.00:60:45.6:0:0:62:87:35:NM_015009.1(PDZRN3) c.1166+98G>A,NM_015009.1(PDZRN3) c.1166+98G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 3 73453325 rs2291463 C T 250 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=C/0.3984,T/0.6016;PC=0.028;Gene=PDZRN3/NM_001303142.1/0;CC=c.291G>A;ProtCh=p.V97=;VC=Silent;Gene=PDZRN3/NM_001303141.1/0;CC=c.306G>A;ProtCh=p.V102=;VC=Silent;Gene=PDZRN3/NM_001303140.1/0;CC=c.111G>A;ProtCh=p.V37=;VC=Silent;Gene=PDZRN3/NM_001303139.1/0;CC=c.234G>A;ProtCh=p.V78=;VC=Silent;Gene=PDZRN3/NM_015009.2/1;CC=c.1140G>A;ProtCh=p.V380=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:74:55:0:0:1,73:9,2159:0.11,250.06:0.11,162.67:0.00,87.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:191.0,42.8:0,0:0,0:49,51:102,100:0,29:NM_015009.1(PDZRN3) c.1140G>A (p.(=)),NM_015009.1(PDZRN3) c.1140G>A (p.(=)):0.64,0.64:0.534676,0.534676 3 73453547 . C . . NT END=73482789;NT GT ./. 3 73483143 . A . . NT END=73523605;NT GT ./. 3 73523784 . A . . NT END=73618301;NT GT ./. 3 73618579 rs59217439 C T 221 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=132;DB;DBA=NA;PAF=C/0.5697,T/0.4303;Gene=PDZRN3/NM_001303139.1/0;CC=c.-266G>A;VC=5UTR;Gene=PDZRN3/NM_015009.2/1;CC=c.918+32926G>A;VC=Intron;Gene=LOC101927296/NR_121660.1/0;VC=NonCoding;DM=PDZRN3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:132:100:0:0:64,68:2041,2284:0.00,221.15:0.00,132.80:0.00,88.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.5,39.5:0,0:0,0:73,61:75,85:33,31:-,NM_015009.1(PDZRN3) c.918+32926G>A:-,0.43:-,NOT_FOUND 3 73618667 . a . . NT END=73651504;NT GT ./. 3 73642860 rs58251662 TACAC T 9 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=75;PC=0.015;Gene=PDZRN3/NM_015009.2/1;CC=c.918+8641_918+8644delGTGT;VC=Intron;DM=PDZRN3/PDZ;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:TACAC,T:5:4:0:3:2,3:67,91:0.00,9.07:0.00,4.74:0.00,4.33:0.00,0.78:0.00,0.97:0.00,0.94:60,60:0.0,39.7:0,0:0,0:70,35:46,95:33,2:-,NM_015009.1(PDZRN3) c.918+8641_918+8644delGTGT:-,NOT_FOUND:-,NOT_FOUND 3 73651383 rs6809923 A T 26 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.5002,T/0.4998;Gene=PDZRN3/NM_015009.2/1;CC=c.918+122T>A;VC=Intron;DM=PDZRN3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,T:12:12:0:0:4,8:131,258:0.00,26.30:0.00,26.30:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:20.5,44.9:0,0:0,0:48,78:101,71:5,41:-,NM_015009.1(PDZRN3) c.918+122T>A:-,0.52:-,NOT_FOUND 3 73651469 rs6797804 C T 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.2813,T/0.7187;Gene=PDZRN3/NM_015009.2/1;CC=c.918+36G>A;VC=Intron;DM=PDZRN3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:26:0:0:15,14:506,441:0.00,42.00:0.00,26.28:0.00,15.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.7,45.1:0,0:0,0:27,55:124,94:20,27:-,NM_015009.1(PDZRN3) c.918+36G>A:-,0.71:-,0.695294 3 73651613 . C . . NT END=73657748;NT GT ./. 3 73651621 rs537092530 TA T 21 rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=756;PC=0.997;Gene=PDZRN3/NM_015009.2/1;CC=c.811-10delT;VC=Intron;DM=PDZRN3/PDZ;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:29:10:1:9:20,1,8:621,26,282:0.00,1.31,21.44:0.00,0.76,5.40:0.00,0.56,16.04:0.00,0.00,0.98:0.00,0.00,0.93:0.00,0.00,1.00:60,60,60:7.1,45.0,0.0:0,0,1:0,0,0:107,49,107:43,102,44:30,0,25:-,NM_015009.1(PDZRN3) c.811-10delT:-,NOT_FOUND:-,NOT_FOUND 3 73653037 rs6768165 T TAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.608,C/0.392;NP=10;NP=26;NP=386;Gene=PDZRN3/NM_015009.2/1;CC=c.811-1426_811-1425insGT;VC=Intron;DM=PDZRN3/PDZ;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:T,TAC:4:4:2:0:2,2:66,66:0.00,6.35:0.00,6.65:0.00,-0.30:0.00,0.51:0.00,0.51:0.00,0.79:60,70:5.5,0.0:0,0:0,0:31,27:88,124:8,23:-,NM_015009.1(PDZRN3) c.811-1426_811-1425insGT:-,NOT_FOUND:-,NOT_FOUND 3 73657836 . C . . NT END=73673253;NT GT ./. 3 73673578 rs6763344 G C 296 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=175;DB;DBA=NA;PAF=G/0.07768,C/0.9223;PC=0.990;Gene=PDZRN3/NM_015009.2/1;CC=c.399C>G;ProtCh=p.A133=;VC=Silent;Gene=PDZRN3-AS1/NR_046681.1/0;VC=NonCoding;DM=PDZRN3/PDZ;DM=PDZRN3/PDZ GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:175:120:0:0:98,77:3016,2431:295.78,0.00:163.29,0.00:132.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,8.6:0,0:0,0:66,85:79,62:35,33:NM_015009.1(PDZRN3) c.=,-:0.88,-:NOT_FOUND,- 3 73673977 . G . . NT END=74313551;NT GT ./. 3 74313653 . C . . NT END=74315631;NT GT ./. 3 74315580 rs615824 C G 128 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=C/0.1729,G/0.8271;Gene=CNTN3/NM_020872.2/1;CC=c.2986+52G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:95:G:35:32:0:0:35:1115:128.16:105.88:22.28:1.00:1.00:1.00:60:33.7:0:0:43:108:30:NM_020872.1(CNTN3) c.2986+52G>C,NM_020872.1(CNTN3) c.2986+52G>C:0.86,0.86:0.795082,0.795082 3 74315801 . C . . NT END=74316416;NT GT ./. 3 74316530 . C . . NT END=74334455;NT GT ./. 3 74334643 . C . . NT END=74344271;NT GT ./. 3 74344134 rs1352475 A G 9 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.8812,G/0.1188;Gene=CNTN3/NM_020872.2/1;CC=c.2517+138T>C;VC=Intron;DM=CNTN3/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:105:A,G:13:13:0:0:8,5:251,107:0.00,9.28:0.00,9.28:0.00,0.00:0.00,0.91:0.00,0.91:0.00,0.00:60,60:11.2,43.6:0,0:0,0:55,80:95,71:31,20:-,NM_020872.1(CNTN3) c.2517+138T>C:-,0.16:-,NOT_FOUND 3 74344388 . C . . NT END=74347107;NT GT ./. 3 74347343 . C . . NT END=74349018;NT GT ./. 3 74349090 . C . . NT END=74350548;NT GT ./. 3 74350699 . C . . NT END=74350797;NT GT ./. 3 74350957 . C . . NT END=74351840;NT GT ./. 3 74351959 . C . . NT END=74383885;NT GT ./. 3 74383616 rs643683 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2198,T/0.7802;PC=0.001;Gene=CNTN3/NM_020872.2/1;CC=c.1668+270G>A;VC=Intron;DM=CNTN3/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:104:12.27:12.27:0.00:1.00:1.00:0.00:60:28.5:0:0:41:108:29:NM_020872.1(CNTN3) c.1668+270G>A,NM_020872.1(CNTN3) c.1668+270G>A:0.77,0.77:NOT_FOUND,NOT_FOUND 3 74384062 . C . . NT END=74385681;NT GT ./. 3 74385810 . C . . NT END=74411040;NT GT ./. 3 74411192 . C . . NT END=74413617;NT GT ./. 3 74413676 rs6549590 T C 209 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.5499,C/0.4501;PC=0.678;Gene=CNTN3/NM_020872.2/1;CC=c.1155A>G;ProtCh=p.Q385=;VC=Silent;DM=CNTN3/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:38:0:0:55:1824:208.58:102.63:105.95:1.00:1.00:1.00:60:38.9:0:0:79:71:25:NM_020872.1(CNTN3) c.=,NM_020872.1(CNTN3) c.=:0.45,0.45:0.472397,0.472397 3 74413748 . C . . NT END=74414716;NT GT ./. 3 74414854 . C . . NT END=74418339;NT GT ./. 3 74418525 . C . . NT END=74419039;NT GT ./. 3 74419143 . C . . NT END=74420346;NT GT ./. 3 74420551 . C . . NT END=74473995;NT GT ./. 3 74473793 rs13095169 A C 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4141,C/0.5859;PC=0.001;Gene=CNTN3/NM_020872.2/1;CC=c.454+203T>G;VC=Intron;DM=CNTN3/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:204:23.26:23.26:0.00:1.00:1.00:0.00:60:35.7:0:0:71:78:18:NM_020872.1(CNTN3) c.454+203T>G,NM_020872.1(CNTN3) c.454+203T>G:0.64,0.64:NOT_FOUND,NOT_FOUND 3 74474092 . C . . NT END=74535606;NT GT ./. 3 74474166 rs7619184 T C 80 nt VT=SNV;PN=T;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.4137,C/0.5863;PC=0.001;Gene=CNTN3/NM_020872.2/1;CC=c.359-75A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:3:0:0:21:705:80.49:7.90:72.59:1.00:1.00:1.00:60:35.5:0:0:106:45:25:NM_020872.1(CNTN3) c.359-75A>G,NM_020872.1(CNTN3) c.359-75A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 3 74535783 . C . . NT END=74548809;NT GT ./. 3 74536132 rs7615301 G C,T 9 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.7821,C/0.2179;PC=0.007;DM=CNTN3/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:C,T:4:0:0:0:3,1:79,11:8.95,0.98:0.00,0.00:8.95,0.98:0.85,0.00:0.00,0.00:0.85,0.00:60,60:48.3,107.0:0,0:0,0:91,137:60,12:39,0:NM_020872.1(CNTN3) c.183-350C>G,NM_020872.1(CNTN3) c.183-350C>A:0.26,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 74548558 rs4677404 A G 16 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1989,G/0.8011;Gene=CNTN3/NM_020872.2/1;CC=c.182+252T>C;VC=Intron;DM=CNTN3/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:139:15.81:15.81:0.00:1.00:1.00:0.00:60:66.5:0:0:59:91:13:NM_020872.1(CNTN3) c.182+252T>C,NM_020872.1(CNTN3) c.182+252T>C:0.81,0.81:NOT_FOUND,NOT_FOUND 3 74548611 rs6765009 A G 29 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.4451,G/0.5549;PC=0.002;Gene=CNTN3/NM_020872.2/1;CC=c.182+199T>C;VC=Intron;DM=CNTN3/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:8:0:0:8:252:29.01:29.01:0.00:1.00:1.00:0.00:60:55.6:0:0:47:103:35:NM_020872.1(CNTN3) c.182+199T>C,NM_020872.1(CNTN3) c.182+199T>C:0.55,0.55:NOT_FOUND,NOT_FOUND 3 74548937 . C . . NT END=74570208;NT GT ./. 3 74570264 . C . . NT END=75713530;NT GT ./. 3 74663584 rs548175205 TCGCCGC T 39 nt VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=TCGCCGC/0.5389,T/0.4611;NP=35;PC=0.003;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:TCGCCGC,T:12:9:0:13:1,11:33,391:0.00,39.43:0.00,13.60:0.00,25.83:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,3.1:0,1:0,0:142,94:9,54:0,11:-,chr3 g.74663585_74663590delCGCCGC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 74787022 rs13061773 A G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6589,G/0.3411 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,G:4:3:0:0:1,3:33,97:0.00,10.15:0.00,3.20:0.00,6.95:0.00,0.85:0.00,0.99:0.00,0.85:60,60:13.0,32.3:0,0:0,0:40,42:111,107:0,33:-,chr3 g.74787021A>G (intergenic):-,0.36:-,NOT_FOUND 3 74830805 rs564812311 A ATGTGTGTG 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.8758,G/0.1242;NP=1;PC=0.029;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:ATGTGTGTG:4:2:4:0:4:121:14.01:5.67:8.34:1.00:1.00:1.00:60:81.0:0:0:54:94:15:chr3 g.74830805_74830806insTGTGTGTG (intergenic),chr3 g.74830805_74830806insTGTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 74830807 rs35044671 A G 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6585,G/0.3415;NP=126;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:2:0:0:4:140:15.91:6.02:9.89:1.00:1.00:1.00:60:81.0:0:0:64:84:15:chr3 g.74830806A>G (intergenic),chr3 g.74830806A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 74830809 rs71129779 A G 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.634,G/0.366;DB;DBA=NA;PAF=NA;NP=1;NP=157;NP=2;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:G:4:2:0:0:4:114:13.25:6.02:7.23:1.00:1.00:1.00:60:81.0:0:0:66:82:15:chr3 g.74830808A>G (intergenic),chr3 g.74830808A>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 75147338 rs59523844 T TAC 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=14;NP=70;PC=0.010;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:T,TAC:5:4:3:0:2,3:59,93:0.00,9.27:0.00,2.81:0.00,6.46:0.00,0.78:0.00,0.97:0.00,0.94:60,70:0.0,31.3:0,0:0,0:116,46:34,60:1,28:-,chr3 g.75147338_75147339insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75264907 rs13078204 C A 11 end,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.06589,A/0.9341;PC=0.018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:96:11.48:0.00:11.48:1.00:0.00:1.00:60:88.8:0:0:143:7:3:chr3 g.75264906C>A (intergenic),chr3 g.75264906C>A (intergenic):0.64,0.64:NOT_FOUND,NOT_FOUND 3 75386297 rs6769147 G A 180 nt VT=SNV;PN=G;NN=C;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.5853,A/0.4147;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:140:A:50:32:0:0:50:1561:179.89:84.86:95.03:1.00:1.00:1.00:60:49.6:0:0:69:72:35:chr3 g.75386296G>A (intergenic),chr3 g.75386296G>A (intergenic):0.45,0.45:NOT_FOUND,NOT_FOUND 3 75386380 rs4677501 T G 133 nt VT=SNV;PN=G;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A,C,G:40:23:0:0:1,1,38:10,18,1163:0.22,0.75,133.47:0.22,0.00,52.20:0.00,0.75,81.27:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,46,60:186.0,210.0,60.5:0,0,0:0,0,0:68,115,89:82,20,53:0,0,38:chr3 g.75386379T>G (intergenic),chr3 g.75386379T>G (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 3 75388161 rs6765044 T C 270 nt VT=SNV;PN=G;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.5719,C/0.4281;PC=0.216 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:75:45:0:0:1,74:11,2348:0.16,269.55:0.00,119.18:0.16,150.37:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.0,44.1:0,0:0,0:100,106:46,42:0,21:chr3 g.75388160T>C (intergenic),chr3 g.75388160T>C (intergenic):0.47,0.47:NOT_FOUND,NOT_FOUND 3 75388243 rs6798065 T C 164 nt VT=SNV;PN=G;NN=G;SST=Single;DP=48;DB;DBA=NA;PAF=T/0.3626,C/0.6374 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:119:A,C:48:10:0:0:1,47:14,1422:0.40,164.02:0.00,26.44:0.40,137.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:111.0,52.9:0,0:0,0:4,89:147,61:0,34:chr3 g.75388242T>C (intergenic),chr3 g.75388242T>C (intergenic):0.68,0.68:NOT_FOUND,NOT_FOUND 3 75391907 rs369514358 C CGTGTGTGTGT 18 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=11;NP=2;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:CGTGTGTGTGT:5:5:6:0:5:194:18.39:14.69:3.70:0.99:1.00:1.00:60:71.0:1:0:40:99:8:chr3 g.75391907_75391908insGTGTGTGTGT (intergenic),chr3 g.75391907_75391908insGTGTGTGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 75391919 rs6549725 A T 23 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.003794,T/0.9962;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:5:0:0:6:201:22.96:15.06:7.90:1.00:1.00:1.00:60:59.8:0:0:61:78:11:chr3 g.75391918A>T (intergenic),chr3 g.75391918A>T (intergenic):0.98,0.98:NOT_FOUND,NOT_FOUND 3 75397418 rs2324010 G T 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.5717,T/0.4283 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:328:37.57:37.57:0.00:1.00:1.00:0.00:60:46.2:0:0:31:118:27:chr3 g.75397417G>T (intergenic),chr3 g.75397417G>T (intergenic):0.47,0.47:NOT_FOUND,NOT_FOUND 3 75397542 rs3891037 A G 66 nt VT=SNV;PN=C;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.376,G/0.624;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:51:G:21:21:0:0:21:562:65.99:65.99:0.00:1.00:1.00:0.00:60:48.8:0:0:67:84:33:chr3 g.75397541A>G (intergenic),chr3 g.75397541A>G (intergenic):0.68,0.68:NOT_FOUND,NOT_FOUND 3 75397679 rs3860597 G A 334 nt VT=SNV;PN=C;NN=T;SST=Single;DP=90;DB;DBA=NA;PAF=G/0.4659,A/0.5341 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:90:75:0:0:90:2913:334.09:224.02:110.08:1.00:1.00:1.00:60:39.5:0:0:37:111:19:chr3 g.75397678G>A (intergenic),chr3 g.75397678G>A (intergenic):0.58,0.58:NOT_FOUND,NOT_FOUND 3 75420117 rs9713678 G A 8 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5082,A/0.4918,C/.;PC=0.980 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:82:A,G:12:12:0:0:3,9:95,297:8.00,0.00:8.06,0.00:-0.06,0.00:0.59,0.00:0.59,0.00:0.50,0.00:60,60:45.7,36.1:0,0:0,0:36,44:115,107:21,16:chr3 g.75420116G>A (intergenic),-:0.52,-:NOT_FOUND,- 3 75420180 rs62259093 A G 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.74,G/0.26;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:28:27:0:0:17,10,1:558,275,13:0.00,24.50,0.21:0.00,19.36,0.21:0.00,5.15,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,0.66,0.00:60,60,60:20.9,33.0,70.0:0,0,0:0,0,0:28,96,132:117,53,18:10,27,0:-,chr3 g.75420179A>G (intergenic):-,0.26:-,NOT_FOUND 3 75420606 rs12629499 C A 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.5441,A/0.4559 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:154:A,C:11:0:0:0:6,5:181,150:17.66,0.00:0.00,0.00:17.66,0.00:0.98,0.00:0.00,0.00:0.98,0.00:60,54:61.2,15.4:0,0:0,0:115,117:35,30:28,12:chr3 g.75420605C>A (intergenic),-:0.49,-:NOT_FOUND,- 3 75440762 rs7618720 T C 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.6322,C/0.3678;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:29:27:0:0:17,12:547,355:54.26,0.00:46.09,0.00:8.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.8,9.7:0,0:0,0:43,84:107,66:23,36:chr3 g.75440761T>C (intergenic),-:0.39,-:NOT_FOUND,- 3 75441228 rs11721126 A G 16 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.1316,G/0.8684;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:60:75.8:0:0:127:23:7:chr3 g.75441227A>G (intergenic),chr3 g.75441227A>G (intergenic):0.89,0.89:NOT_FOUND,NOT_FOUND 3 75444762 rs147946060 G A 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.9722,A/0.02776;PC=0.084 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:171:A,G:10:1:0:0:5,5:167,168:16.07,0.00:1.74,0.00:14.34,0.00:0.95,0.00:0.67,0.00:0.95,0.00:60,60:38.0,4.2:0,0:0,0:63,125:88,25:23,22:chr3 g.75444761G>A (intergenic),-:0.04,-:NOT_FOUND,- 3 75446868 rs142693113 G A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.977,A/0.02296;PC=0.044 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,G:13:10:0:0:4,9:110,281:9.41,0.00:6.06,0.00:3.36,0.00:0.79,0.00:0.95,0.00:0.92,0.00:60,60:37.2,16.4:0,0:0,0:114,49:35,99:3,20:chr3 g.75446867G>A (intergenic),-:0.03,-:NOT_FOUND,- 3 75446972 rs13080451 G A 13 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.5769,A/0.4231;PC=0.031 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,G:7:1:0:0:4,3:131,101:12.93,0.00:1.87,0.00:11.06,0.00:0.90,0.00:0.71,0.00:0.90,0.00:60,60:32.8,12.7:0,0:0,0:132,132:18,19:6,1:chr3 g.75446971G>A (intergenic),-:0.45,-:NOT_FOUND,- 3 75465297 rs73118953 T C 226 nt VT=SNV;PN=G;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.6314,C/0.3686 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:169:C,G:64:18:0:0:63,1:1962,11:225.53,0.19:45.16,0.00:180.37,0.19:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.1,58.0:0,0:0,0:109,135:42,16:29,0:chr3 g.75465296T>C (intergenic),chr3 g.75465296T>C (intergenic):0.4,0.4:NOT_FOUND,NOT_FOUND 3 75466006 . GA G 10 rn VT=DEL;SST=Single;DP=22;NP=36;PC=0.006;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:GA,I,G:22:21:2:4:16,2,4:548,60,121:0.00,4.21,9.65:0.00,4.34,9.92:0.00,-0.12,-0.26:0.00,0.00,0.70:0.00,0.00,0.96:0.00,0.00,0.62:60,60,60:34.1,17.5,86.8:0,0,0:0,0,0:50,48,16:100,102,135:34,46,5:-,chr3 g.75466007delA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75466085 rs6549736 T C 137 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=T/0.07408,C/0.9259;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:69:C,T:38:32:0:0:37,1:1210,35:136.63,0.00:93.81,0.00:42.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:49.4,0.0:0,0:0,0:76,35:75,114:23,0:chr3 g.75466084T>C (intergenic),chr3 g.75466084T>C (intergenic):0.92,0.92:NOT_FOUND,NOT_FOUND 3 75481973 rs145138523 C T 191 nt VT=SNV;PN=T;NN=C;SST=Single;DP=135;DB;DBA=NA;PAF=C/0.9942,T/0.005791;PC=1.000;Gene=FAM86DP/NR_024241.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:135:99:0:0:70,65:2279,2008:0.00,191.08:0.00,112.47:0.00,78.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.4,37.9:0,0:0,0:52,57:94,85:24,23:-,NR_024241.1(FAM86DP) n.247G>A:-,0.01:-,NOT_FOUND 3 75546804 rs376434173 GGT G 8 idl,rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=3;PC=0.001;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:GGT,G:8:9:0:6:5,3:153,152:0.00,7.59:0.00,6.27:0.00,1.32:0.00,0.62:0.00,0.94:0.00,0.86:60,60:45.6,53.0:0,2:0,0:85,33:49,115:48,20:-,chr3 g.75546805_75546806delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75546872 rs73842017 C A 22 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.7754,A/0.2246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:A:6:4:0:0:6:196:22.46:7.70:14.76:1.00:1.00:1.00:60:38.0:0:0:99:39:26:chr3 g.75546871C>A (intergenic),chr3 g.75546871C>A (intergenic):0.18,0.18:NOT_FOUND,NOT_FOUND 3 75570942 . G A 17 nt VT=SNV;PN=C;NN=C;SST=Single;DP=7;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:A,G:7:6:0:0:5,2:166,68:17.17,0.00:10.28,0.00:6.89,0.00:0.98,0.00:1.00,0.00:0.99,0.00:60,60:36.4,0.0:0,0:0,0:54,39:95,111:23,25:chr3 g.75570941G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 75591234 rs200430302 ATTG A 11 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=ATTG/0.869,A/0.131;NP=48;PC=0.255;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:ATTG,A:8:7:0:4:4,4:135,120:0.00,11.50:0.00,5.00:0.00,6.50:0.00,0.87:0.00,0.99:0.00,0.89:50,43:0.0,65.2:0,0:0,0:129,54:21,96:6,35:-,chr3 g.75591235_75591237delTTG (intergenic):-,0.15:-,NOT_FOUND 3 75591266 rs62260258 T G 35 nt VT=SNV;PN=G;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.5948,G/0.4052;PC=0.500 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:74:G,T:13:8:0:0:10,3:332,90:34.92,0.00:14.10,0.00:20.82,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:79.9,2.0:0,0:0,0:28,6:121,108:13,5:chr3 g.75591265T>G (intergenic),-:0.47,-:NOT_FOUND,- 3 75591279 rs62260259 C T 32 nt VT=SNV;PN=G;NN=C;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.878,T/0.122;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:C,T:14:8:0:0:4,10:133,306:0.00,31.69:0.00,13.78:0.00,17.91:0.00,1.00:0.00,1.00:0.00,1.00:60,56:1.5,80.6:0,0:0,0:16,41:116,108:9,7:-,chr3 g.75591278C>T (intergenic):-,0.1:-,NOT_FOUND 3 75591811 rs62258760 C T 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.7959,T/0.2041;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:C,T:11:8:0:0:7,4:240,131:0.00,11.88:0.00,7.51:0.00,4.37:0.00,0.82:0.00,0.96:0.00,0.89:52,51:4.0,57.2:0,0:0,0:30,11:120,139:3,4:-,chr3 g.75591810C>T (intergenic):-,0.19:-,NOT_FOUND 3 75591937 rs62258761 C T 26 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.8744,T/0.1256;PC=0.972 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:9:0:0:8,8:264,270:0.00,26.00:0.00,11.66:0.00,14.34:0.00,1.00:0.00,1.00:0.00,1.00:55,54:6.6,42.5:0,0:0,0:106,97:44,54:14,27:-,chr3 g.75591936C>T (intergenic):-,0.12:-,NOT_FOUND 3 75592079 rs139442570 A C 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8744,C/0.1256;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,C:5:1:0:0:3,2:91,69:0.00,6.39:0.00,3.48:0.00,2.91:0.00,0.46:0.00,0.60:0.00,0.87:60,60:0.7,119.0:0,0:0,0:85,95:65,55:35,21:-,chr3 g.75592078A>C (intergenic):-,0.12:-,NOT_FOUND 3 75592109 rs74281612 A T 6 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.8295,T/0.1705;PC=0.931 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,T:4:1:0:0:2,2:56,66:0.00,6.35:0.00,3.58:0.00,2.77:0.00,0.51:0.00,0.67:0.00,0.89:60,60:1.0,119.0:0,0:0,0:97,125:51,25:17,21:-,chr3 g.75592108A>T (intergenic):-,0.19:-,NOT_FOUND 3 75672854 rs55949754 G A 30 nt VT=SNV;PN=G;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.243 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:A:8:4:0:0:8:266:30.42:15.11:15.31:1.00:1.00:1.00:40:35.9:0:0:60:90:39:NR_031714.1(MIR1324) n.-7060G>A,NR_031714.1(MIR1324) n.-7060G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 75700231 rs62249565 G A 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;PC=0.048 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:49:A,G:4:4:0:0:2,2:68,49:6.56,0.00:3.13,0.00:3.43,0.00:0.51,0.00:0.51,0.00:0.89,0.00:45,42:81.0,45.0:0,0:0,0:78,37:41,112:27,0:chr3 g.75700230G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 75703952 rs200729802 A T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=106;PC=0.035 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:A,T:7:6:0:0:3,4:78,111:0.00,10.93:0.00,7.38:0.00,3.55:0.00,0.90:0.00,0.99:0.00,0.85:27,27:134.0,169.2:0,0:0,0:68,74:83,72:6,20:-,chr3 g.75703951A>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75703975 rs62247084 G C 22 idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=2;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A,C:8:6:0:0:1,7:7,192:0.38,22.09:0.38,14.06:0.00,8.04:0.00,1.00:0.00,1.00:0.00,0.99:27,27:127.0,148.7:0,4:0,0:97,91:54,59:0,34:chr3 g.75703974G>C (intergenic),chr3 g.75703974G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 75703977 rs368000913 A AT 7 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;PC=0.032;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:84:A,AT:8:6:4:0:4,4:110,80:0.00,7.32:0.00,7.33:0.00,-0.00:0.00,0.87:0.00,0.98:0.00,0.79:27,27:122.8,169.2:0,0:0,0:96,99:55,47:26,20:-,chr3 g.75703977_75703978insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75704022 . T A 8 nt VT=SNV;PN=A;NN=C;SST=Single;DP=6;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,T:6:4:0:0:3,3:87,93:8.32,0.00:6.25,0.00:2.07,0.00:0.98,0.00:0.51,0.00:0.79,0.00:27,27:184.3,134.0:0,0:0,0:105,138:44,13:34,6:chr3 g.75704021T>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 75704028 rs200222804 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:6:4:0:0:2,4:69,95:0.00,9.72:0.00,7.50:0.00,2.22:0.00,0.93:0.00,0.99:0.00,0.91:27,27:137.5,170.0:0,0:0,0:121,128:29,21:23,19:-,chr3 g.75704027C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75704094 rs73843818 C T 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:0:4:132:15.11:0.00:15.11:1.00:0.00:1.00:27:141.2:0:0:34:117:26:chr3 g.75704093C>T (intergenic),chr3 g.75704093C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 75704191 rs62247085 T C 16 nt VT=SNV;PN=G;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=3;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:139:15.81:0.00:15.81:1.00:0.00:1.00:27:126.0:0:0:93:57:12:chr3 g.75704190T>C (intergenic),chr3 g.75704190T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 75704208 rs142634300 C T 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,T:4:0:0:0:2,2:65,69:0.00,6.65:0.00,0.00:0.00,6.65:0.00,0.51:0.00,0.00:0.00,0.51:27,27:85.5,166.5:0,0:0,0:115,90:35,59:11,27:-,chr3 g.75704207C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75704219 rs79213942 C T 7 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=20;PC=0.945 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:C,T:4:0:0:0:2,2:67,68:0.00,6.55:0.00,0.00:0.00,6.55:0.00,0.51:0.00,0.00:0.00,0.51:27,27:166.5,85.5:0,0:0,0:101,126:48,24:27,11:-,chr3 g.75704218C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 75713709 . G . . NT END=75713969;NT GT ./. 3 75714048 . G . . NT END=75714276;NT GT ./. 3 75714355 . G . . NT END=75714677;NT GT ./. 3 75715193 . C . . NT END=75719235;NT GT ./. 3 75719403 . G . . NT END=75720333;NT GT ./. 3 75720762 . C . . NT END=75786028;NT GT ./. 3 75786515 rs74637771 G A 7 lc VT=SNV;PN=C;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.005;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3912C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2259C>T;ProtCh=p.T753=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.2259C>T;ProtCh=p.T753=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.2109C>T;ProtCh=p.T703=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:34:A,G:28:23:0:0:3,25:95,735:6.79,0.00:7.14,0.00:-0.34,0.00:0.44,0.00:0.84,0.00:0.58,0.00:40,42:252.3,5.8:0,0:0,0:49,42:102,107:30,33:NM_001128223.1(ZNF717) c.2259C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75786516 rs141393015 G T 7 lc VT=SNV;PN=G;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=NA;PC=0.995;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3911C>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2258C>A;ProtCh=p.T753N;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2258C>A;ProtCh=p.T753N;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.2108C>A;ProtCh=p.T703N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:G,T:28:23:0:0:25,3:775,94:0.00,6.69:0.00,7.04:0.00,-0.34:0.00,0.44:0.00,0.84:0.00,0.58:42,40:5.8,252.3:0,0:0,0:43,50:106,101:33,30:-,NM_001128223.1(ZNF717) c.2258C>A (p.Thr753Asn):-,NOT_FOUND:-,NOT_FOUND 3 75786586 rs201102396 G T 7 lc VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=NA;PC=0.039;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3841C>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2188C>A;ProtCh=p.P730T;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2188C>A;ProtCh=p.P730T;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.2038C>A;ProtCh=p.P680T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:G,T:39:31:0:0:35,4:1132,103:0.00,6.67:0.00,3.58:0.00,3.10:0.00,0.59:0.00,0.90:0.00,0.77:43,40:5.9,239.0:0,0:0,0:59,66:92,80:34,28:-,NM_001128223.1(ZNF717) c.2188C>A (p.Pro730Thr):-,NOT_FOUND:-,NOT_FOUND 3 75786593 . C A 7 lc VT=SNV;PN=T;NN=C;SST=Single;DP=43;PC=0.965;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3834G>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2181G>T;ProtCh=p.G727=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.2181G>T;ProtCh=p.G727=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.2031G>T;ProtCh=p.G677=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,C:43:35:0:0:6,37:114,1199:6.85,0.00:3.69,0.00:3.16,0.00:0.87,0.00:0.98,0.00:0.90,0.00:40,43:231.2,11.7:0,0:0,0:49,66:95,85:30,34:NM_001128223.1(ZNF717) c.2181G>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75786598 rs199898382 G A 10 lc VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=NA;PC=0.981;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3829C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2176C>T;ProtCh=p.R726W;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2176C>T;ProtCh=p.R726W;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.2026C>T;ProtCh=p.R676W;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:45:37:0:0:5,40:148,1222:10.38,0.00:5.85,0.00:4.53,0.00:0.74,0.00:0.95,0.00:0.84,0.00:40,43:272.8,11.3:0,0:0,0:47,45:98,103:36,26:NM_001128223.1(ZNF717) c.2176C>T (p.Arg726Trp),-:NOT_FOUND,-:NOT_FOUND,- 3 75786608 . C T 18 lc VT=SNV;PN=C;NN=T;SST=Single;DP=48;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3819G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2166G>A;ProtCh=p.K722=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.2166G>A;ProtCh=p.K722=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.2016G>A;ProtCh=p.K672=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:C,T:48:39:0:0:41,7:1314,236:0.00,18.29:0.00,13.18:0.00,5.11:0.00,0.93:0.00,0.99:0.00,0.92:43,41:11.1,267.6:0,0:0,0:49,21:99,130:23,15:-,NM_001128223.1(ZNF717) c.2166G>A (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 75786620 rs144106206 G A 17 lc VT=SNV;PN=T;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3807C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2154C>T;ProtCh=p.F718=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.2154C>T;ProtCh=p.F718=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.2004C>T;ProtCh=p.F668=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,G:48:38:0:0:7,41:225,1356:17.18,0.00:12.14,0.00:5.04,0.00:0.93,0.00:0.99,0.00:0.93,0.00:50,43:254.7,10.8:0,0:0,0:29,66:121,85:11,27:NM_001128223.1(ZNF717) c.2154C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75786662 rs202184453 A T 37 lc VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.997;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3765T>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2112T>A;ProtCh=p.N704K;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2112T>A;ProtCh=p.N704K;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1962T>A;ProtCh=p.N654K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:53:40:0:0:39,14:1303,432:0.00,36.60:0.00,24.04:0.00,12.56:0.00,1.00:0.00,1.00:0.00,1.00:50,50:13.2,223.4:0,0:0,0:86,45:64,102:22,22:-,NM_001128223.1(ZNF717) c.2112T>A (p.Asn704Lys):-,NOT_FOUND:-,NOT_FOUND 3 75786672 rs200017345 C T 28 lc VT=SNV;PN=G;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=NA;PC=0.120;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3755G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2102G>A;ProtCh=p.S701N;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2102G>A;ProtCh=p.S701N;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1952G>A;ProtCh=p.S651N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:53:38:0:0:38,2,13:1221,18,339:0.00,-0.15,27.54:0.00,0.13,14.02:0.00,-0.28,13.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:50,50,44:8.9,160.5,204.5:0,0,0:0,0,0:96,70,39:54,80,108:23,10,27:-,NM_001128223.1(ZNF717) c.2102G>A (p.Ser701Asn):-,NOT_FOUND:-,NOT_FOUND 3 75786681 rs111677009 G A 39 lc VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3746C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2093C>T;ProtCh=p.P698L;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2093C>T;ProtCh=p.P698L;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1943C>T;ProtCh=p.P648L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:53:39:0:0:15,37,1:449,1069,13:38.52,0.00,0.01:20.97,0.00,0.13:17.56,0.00,-0.13:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:52,60,42:197.7,13.6,13.0:0,0,0:0,0,0:36,90,131:103,59,14:23,29,0:NM_001128223.1(ZNF717) c.2093C>T (p.Pro698Leu),-:NOT_FOUND,-:NOT_FOUND,- 3 75786684 rs201345045 G T 45 lc VT=SNV;PN=T;NN=T;SST=Single;DP=56;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3743C>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2090C>A;ProtCh=p.T697K;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2090C>A;ProtCh=p.T697K;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1940C>A;ProtCh=p.T647K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:56:41:0:0:39,17:1221,514:0.00,44.58:0.00,27.54:0.00,17.05:0.00,1.00:0.00,1.00:0.00,1.00:60,58:13.2,195.6:0,0:0,0:104,51:47,96:20,34:-,NM_001128223.1(ZNF717) c.2090C>A (p.Thr697Lys):-,NOT_FOUND:-,NOT_FOUND 3 75786737 rs78297221 A T 84 lc VT=SNV;PN=C;NN=T;SST=Single;DP=71;DB;DBA=NA;PAF=NA;PC=1.000;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3690T>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2037T>A;ProtCh=p.N679K;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2037T>A;ProtCh=p.N679K;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1887T>A;ProtCh=p.N629K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:71:53:0:0:43,1,27:1407,11,916:0.00,-0.10,84.21:0.00,0.01,61.82:0.00,-0.11,22.39:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,43,60:9.7,145.0,158.8:0,0,0:0,0,0:50,92,57:101,28,89:34,0,31:-,NM_001128223.1(ZNF717) c.2037T>A (p.Asn679Lys):-,0.48:-,NOT_FOUND 3 75786748 rs112332186 C T 86 lc VT=SNV;PN=T;NN=C;SST=Single;DP=72;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3679G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2026G>A;ProtCh=p.D676N;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.2026G>A;ProtCh=p.D676N;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1876G>A;ProtCh=p.D626N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:72:53:0:0:43,29:1358,929:0.00,85.64:0.00,65.38:0.00,20.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.4,142.9:0,0:0,0:57,61:93,86:38,29:-,NM_001128223.1(ZNF717) c.2026G>A (p.Asp676Asn):-,0.48:-,NOT_FOUND 3 75786760 rs145576551 TC T 74 lc VT=DEL;SST=Single;DP=73;DB;DBA=NA;PAF=NA;NP=805;PC=0.981;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3666delG;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.2013delG;ProtCh=p.N673Tfs*5;VC=FrameShiftDel;Gene=ZNF717/NM_001290208.1/0;CC=c.2013delG;ProtCh=p.N673Tfs*5;VC=FrameShiftDel;Gene=ZNF717/NM_001290209.1/0;CC=c.1863delG;ProtCh=p.N623Tfs*5;VC=FrameShiftDel;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TC,T:73:50:0:28:45,28:1381,814:0.00,73.52:0.00,56.85:0.00,16.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.6,142.6:0,0:0,0:64,71:87,76:40,27:-,NM_001128223.1(ZNF717) c.2010G[3] (p.Asn673Thrfs*5):-,NOT_FOUND:-,0.454674 3 75786833 rs139448820 G A 101 lc VT=SNV;PN=C;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=815;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3594C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1941C>T;ProtCh=p.Y647=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.1941C>T;ProtCh=p.Y647=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.1791C>T;ProtCh=p.Y597=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:62:0:0:35,53:1097,1474:100.87,0.00:81.66,0.00:19.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:116.7,10.9:0,0:0,0:69,75:73,67:39,33:NM_001128223.1(ZNF717) c.1941C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75786845 rs62250105 T C 90 lc VT=SNV;PN=C;NN=C;SST=Single;DP=85;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3582A>G;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1929A>G;ProtCh=p.G643=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.1929A>G;ProtCh=p.G643=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.1779A>G;ProtCh=p.G593=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:85:62:0:0:32,53:990,1568:89.87,0.00:67.02,0.00:22.85,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:118.5,13.3:0,0:0,0:73,76:75,72:36,33:NM_001128223.1(ZNF717) c.1929A>G (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75786888 rs1615736 C T 92 lc VT=SNV;PN=A;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3539G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1886G>A;ProtCh=p.R629H;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1886G>A;ProtCh=p.R629H;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1736G>A;ProtCh=p.R579H;VC=Missense;DM=ZNF717/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:77:51:0:0:45,32:1294,990:0.00,91.66:0.00,58.39:0.00,33.26:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.8,97.1:0,1:0,0:79,68:68,82:33,26:-,NM_001128223.1(ZNF717) c.1886G>A (p.Arg629His):-,0.38:-,NOT_FOUND 3 75786894 rs144168413 GT G 78 lc VT=DEL;SST=Single;DP=82;DB;DBA=NA;PAF=NA;NP=725;PC=0.002;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3532delA;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1879delA;ProtCh=p.T627Pfs*51;VC=FrameShiftDel;Gene=ZNF717/NM_001290208.1/0;CC=c.1879delA;ProtCh=p.T627Pfs*51;VC=FrameShiftDel;Gene=ZNF717/NM_001290209.1/0;CC=c.1729delA;ProtCh=p.T577Pfs*51;VC=FrameShiftDel;DM=ZNF717/zf-C2H2;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GT,G:82:54:0:29:53,29:1721,873:0.00,78.00:0.00,45.41:0.00,32.59:0.00,1.00:0.00,1.00:0.00,1.00:60,60:28.6,86.9:1,0:0,0:71,66:79,85:36,29:-,NM_001128223.1(ZNF717) c.1875A[4] (p.Thr627Profs*51):-,NOT_FOUND:-,0.434603 3 75787049 rs62250106 C A 60 lc VT=SNV;PN=A;NN=T;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=749;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3378G>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1725G>T;ProtCh=p.K575N;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1725G>T;ProtCh=p.K575N;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1575G>T;ProtCh=p.K525N;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:51:14:0:0:21,29,1:647,932,12:59.92,0.00,0.02:5.03,0.00,0.20:54.89,0.00,-0.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:42,42,27:67.6,20.8,84.0:0,0,0:0,0,0:114,100,148:37,50,3:23,22,0:NM_001128223.1(ZNF717) c.1725G>T (p.Lys575Asn),-:NOT_FOUND,-:NOT_FOUND,- 3 75787057 rs62250107 G A 51 lc VT=SNV;PN=T;NN=A;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=737;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3370C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1717C>T;ProtCh=p.H573Y;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1717C>T;ProtCh=p.H573Y;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1567C>T;ProtCh=p.H523Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:49:12:0:0:20,29:560,868:51.11,0.00:5.16,0.00:45.94,0.00:1.00,0.00:0.99,0.00:1.00,0.00:42,42:69.5,24.6:0,0:0,0:121,108:30,42:18,23:NM_001128223.1(ZNF717) c.1717C>T (p.His573Tyr),-:NOT_FOUND,-:NOT_FOUND,- 3 75787169 rs73843011 G A 9 lc VT=SNV;PN=C;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=NA;NP=47;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3258C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1605C>T;ProtCh=p.Y535=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.1605C>T;ProtCh=p.Y535=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.1455C>T;ProtCh=p.Y485=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,G:21:8:0:0:5,16:118,438:9.22,0.00:-0.92,0.00:10.14,0.00:0.85,0.00:0.85,0.00:0.94,0.00:40,40:179.2,15.9:0,0:0,0:82,56:69,94:14,40:NM_001128223.1(ZNF717) c.1605C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75787186 rs73843012 C T 13 lc VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=4;PC=0.985;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3241G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1588G>A;ProtCh=p.A530T;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1588G>A;ProtCh=p.A530T;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1438G>A;ProtCh=p.A480T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:C,T:23:9:0:0:18,5:523,162:0.00,13.37:0.00,-0.95:0.00,14.32:0.00,0.84:0.00,0.85:0.00,0.93:40,40:13.0,179.2:0,0:0,0:54,99:96,52:38,14:-,NM_001128223.1(ZNF717) c.1588G>A (p.Ala530Thr):-,NOT_FOUND:-,NOT_FOUND 3 75787199 rs138214171 A C 14 lc VT=SNV;PN=G;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=1;PC=0.822;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3228T>G;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1575T>G;ProtCh=p.H525Q;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1575T>G;ProtCh=p.H525Q;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1425T>G;ProtCh=p.H475Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:137:A,C:23:9:0:0:18,5:559,168:0.00,13.96:0.00,-0.96:0.00,14.92:0.00,0.84:0.00,0.85:0.00,0.93:40,40:11.1,179.2:0,0:0,0:52,112:98,39:30,14:-,NM_001128223.1(ZNF717) c.1575T>G (p.His525Gln):-,NOT_FOUND:-,NOT_FOUND 3 75787221 rs79089658 C T 11 lc VT=SNV;PN=A;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3206G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1553G>A;ProtCh=p.C518Y;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1553G>A;ProtCh=p.C518Y;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1403G>A;ProtCh=p.C468Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,G,T:25:12:0:0:19,1,5:633,9,137:0.00,-0.08,10.77:0.00,-0.21,-1.16:0.00,0.13,11.93:0.00,0.00,0.83:0.00,0.00,0.89:0.00,0.00,0.90:40,27,40:16.1,77.0,161.0:0,0,0:0,0,0:59,20,120:86,131,29:31,0,16:-,NM_001128223.1(ZNF717) c.1553G>A (p.Cys518Tyr):-,NOT_FOUND:-,NOT_FOUND 3 75787224 rs112847134 C G 8 lc VT=SNV;PN=G;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3203G>C;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1550G>C;ProtCh=p.R517P;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1550G>C;ProtCh=p.R517P;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1400G>C;ProtCh=p.R467P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:C,G:26:13:0:0:22,4:682,107:0.00,7.78:0.00,-0.94:0.00,8.73:0.00,0.67:0.00,0.82:0.00,0.82:40,40:18.2,196.5:0,0:0,0:58,130:93,20:33,8:-,NM_001128223.1(ZNF717) c.1550G>C (p.Arg517Pro):-,NOT_FOUND:-,NOT_FOUND 3 75787236 rs113151880 C T 6 lc VT=SNV;PN=C;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=NA;PC=0.977;Gene=ZNF717/NM_001290210.1/1;CC=c.277+3191G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1538G>A;ProtCh=p.G513E;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1538G>A;ProtCh=p.G513E;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1388G>A;ProtCh=p.G463E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:C,T:27:16:0:0:23,4:682,93:0.00,6.33:0.00,-0.23:0.00,6.56:0.00,0.66:0.00,0.86:0.00,0.79:42,40:13.5,168.2:0,0:0,0:54,119:92,30:27,17:-,NM_001128223.1(ZNF717) c.1538G>A (p.Gly513Glu):-,NOT_FOUND:-,NOT_FOUND 3 75787620 rs75737034 T C 7 lc VT=SNV;PN=A;NN=G;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=14;PC=0.996;Gene=ZNF717/NM_001290210.1/1;CC=c.277+2807A>G;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1154A>G;ProtCh=p.H385R;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1154A>G;ProtCh=p.H385R;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.1004A>G;ProtCh=p.H335R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:30:C,T:36:21:0:0:4,32:108,1030:7.32,0.00:5.62,0.00:1.71,0.00:0.61,0.00:0.83,0.00:0.80,0.00:27,50:92.8,4.1:0,0:0,0:35,74:109,76:4,46:NM_001128223.1(ZNF717) c.1154A>G (p.His385Arg),-:NOT_FOUND,-:NOT_FOUND,- 3 75787702 rs62250110 C G 9 lc VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ZNF717/NM_001290210.1/1;CC=c.277+2725G>C;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1072G>C;ProtCh=p.E358Q;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1072G>C;ProtCh=p.E358Q;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.922G>C;ProtCh=p.E308Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:C,G:43:29:0:0:39,4:1261,130:0.00,9.14:0.00,5.49:0.00,3.65:0.00,0.58:0.00,0.86:0.00,0.79:53,27:9.6,92.8:0,0:0,0:60,117:91,27:41,4:-,NM_001128223.1(ZNF717) c.1072G>C (p.Glu358Gln):-,0.56:-,NOT_FOUND 3 75787728 rs75074846 C T 11 lc VT=SNV;PN=G;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=NA;NP=148;Gene=ZNF717/NM_001290210.1/1;CC=c.277+2699G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.1046G>A;ProtCh=p.R349H;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.1046G>A;ProtCh=p.R349H;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.896G>A;ProtCh=p.R299H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:C,T:49:32:0:0:44,5:1319,154:0.00,10.79:0.00,3.76:0.00,7.03:0.00,0.73:0.00,0.91:0.00,0.88:53,27:8.2,116.0:0,0:0,0:74,83:71,67:39,63:-,NM_001128223.1(ZNF717) c.1046G>A (p.Arg349His):-,NOT_FOUND:-,NOT_FOUND 3 75788382 . C T 14 sb,lc VT=SNV;PN=T;NN=C;SST=Single;DP=19;Gene=ZNF717/NM_001290210.1/1;CC=c.277+2045G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.392G>A;ProtCh=p.G131E;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.392G>A;ProtCh=p.G131E;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.242G>A;ProtCh=p.G81E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:140:C,T:19:8:0:0:14,5:454,160:0.00,13.63:0.00,11.66:0.00,1.97:0.00,0.86:0.00,0.88:0.00,0.94:39,25:1.4,102.4:0,0:0,0:71,29:80,122:28,16:-,NM_001128223.1(ZNF717) c.392G>A (p.Gly131Glu):-,NOT_FOUND:-,NOT_FOUND 3 75788390 . A C 12 lc VT=SNV;PN=C;NN=A;SST=Single;DP=21;Gene=ZNF717/NM_001290210.1/1;CC=c.277+2037T>G;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.384T>G;ProtCh=p.V128=;VC=Silent;Gene=ZNF717/NM_001290208.1/0;CC=c.384T>G;ProtCh=p.V128=;VC=Silent;Gene=ZNF717/NM_001290209.1/0;CC=c.234T>G;ProtCh=p.V78=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:122:A,C:21:10:0:0:16,5:498,148:0.00,12.19:0.00,9.91:0.00,2.28:0.00,0.85:0.00,0.90:0.00,0.91:40,25:1.2,102.4:0,0:0,0:71,37:79,114:37,16:-,NM_001128223.1(ZNF717) c.384T>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 75788394 rs201974353 C G 12 lc VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;PC=0.001;Gene=ZNF717/NM_001290210.1/1;CC=c.277+2033G>C;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.380G>C;ProtCh=p.R127T;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.380G>C;ProtCh=p.R127T;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.230G>C;ProtCh=p.R77T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:121:C,G,T:22:10:0:0:16,5,1:524,147,8:0.00,12.09,-0.10:0.00,9.98,0.12:0.00,2.11,-0.22:0.00,0.84,0.00:0.00,0.88,0.00:0.00,0.92,0.00:40,25,27:0.8,102.4,8.0:0,0,0:0,0,0:72,41,100:78,110,51:43,16,0:-,NM_001128223.1(ZNF717) c.380G>C (p.Arg127Thr):-,NOT_FOUND:-,NOT_FOUND 3 75788497 . C . . NT END=75790426;NT GT ./. 3 75788573 rs146021895 T A 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=NA;NP=1;PC=0.001;Gene=ZNF717/NM_001290210.1/1;CC=c.277+1854A>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.278-77A>T;VC=Intron;Gene=ZNF717/NM_001290208.1/0;CC=c.278-77A>T;VC=Intron;Gene=ZNF717/NM_001290209.1/0;CC=c.128-77A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:139:A,T:22:4:0:0:6,16:161,518:13.36,0.00:2.71,0.00:10.65,0.00:0.93,0.00:0.72,0.00:0.99,0.00:24,52:76.8,4.1:0,0:0,0:131,105:18,44:7,23:NM_001128223.1(ZNF717) c.278-77A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 75788594 rs140623752 T A 7 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;PC=0.330;Gene=ZNF717/NM_001290210.1/1;CC=c.277+1833A>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.278-98A>T;VC=Intron;Gene=ZNF717/NM_001290208.1/0;CC=c.278-98A>T;VC=Intron;Gene=ZNF717/NM_001290209.1/0;CC=c.128-98A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:A,T:17:3:0:0:3,14:93,436:7.29,0.00:2.64,0.00:4.65,0.00:0.53,0.00:0.49,0.00:0.91,0.00:24,52:109.0,4.7:0,0:0,0:141,110:9,40:4,26:NM_001128223.1(ZNF717) c.278-98A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 75790520 . C . . NT END=75790760;NT GT ./. 3 75790705 rs149673212 C T 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.184+56G>A;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.184+56G>A;VC=Intron;Gene=ZNF717/NM_001290208.1/0;CC=c.184+56G>A;VC=Intron;Gene=ZNF717/NM_001290209.1/0;CC=c.34+56G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:C,T:32:26:0:0:29,3:890,93:0.00,6.42:0.00,5.24:0.00,1.18:0.00,0.41:0.00,0.83:0.00,0.53:42,27:10.2,252.0:0,0:0,0:30,43:120,108:14,19:-,NM_001128223.1(ZNF717) c.184+56G>A:-,NOT_FOUND:-,NOT_FOUND 3 75790733 rs202161426 C G 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.184+28G>C;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.184+28G>C;VC=Intron;Gene=ZNF717/NM_001290208.1/0;CC=c.184+28G>C;VC=Intron;Gene=ZNF717/NM_001290209.1/0;CC=c.34+28G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,G:42:36:0:0:38,4:1186,132:0.00,9.38:0.00,5.51:0.00,3.87:0.00,0.58:0.00,0.91:0.00,0.66:42,42:12.5,259.0:0,0:0,0:44,31:106,118:23,26:-,NM_001128223.1(ZNF717) c.184+28G>C:-,NOT_FOUND:-,NOT_FOUND 3 75790747 rs73843031 C G 10 nt VT=SNV;PN=G;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=NA;PC=0.011;Gene=ZNF717/NM_001290210.1/1;CC=c.184+14G>C;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.184+14G>C;VC=Intron;Gene=ZNF717/NM_001290208.1/0;CC=c.184+14G>C;VC=Intron;Gene=ZNF717/NM_001290209.1/0;CC=c.34+14G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:37:C,G:48:40:0:0:43,5:1430,144:0.00,9.84:0.00,3.99:0.00,5.86:0.00,0.73:0.00,0.95:0.00,0.81:44,42:12.3,248.2:0,0:0,0:51,25:98,126:25,24:-,NM_001128223.1(ZNF717) c.184+14G>C:-,NOT_FOUND:-,NOT_FOUND 3 75790797 rs147946451 C T 14 lc VT=SNV;PN=A;NN=G;SST=Single;DP=62;DB;DBA=NA;PAF=NA;PC=0.244;Gene=ZNF717/NM_001290210.1/1;CC=c.148G>A;ProtCh=p.V50M;VC=Missense;Gene=ZNF717/NM_001128223.1/0;CC=c.148G>A;ProtCh=p.V50M;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.148G>A;ProtCh=p.V50M;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.-3G>A;VC=5UTR;DM=ZNF717/KRAB;DM=ZNF717/KRAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:C,T:62:50:0:0:55,7:1822,201:0.00,14.03:0.00,5.86:0.00,8.17:0.00,0.90:0.00,0.99:0.00,0.94:44,42:14.0,212.4:0,0:0,0:75,80:71,54:33,29:-,NM_001128223.1(ZNF717) c.148G>A (p.Val50Met):-,0.26:-,NOT_FOUND 3 75790811 rs199577560 G T 12 idl,lc VT=SNV;PN=G;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=NA;Gene=ZNF717/NM_001290210.1/1;CC=c.134C>A;ProtCh=p.T45N;VC=Missense;Gene=ZNF717/NM_001128223.1/0;CC=c.134C>A;ProtCh=p.T45N;VC=Missense;Gene=ZNF717/NM_001290208.1/0;CC=c.134C>A;ProtCh=p.T45N;VC=Missense;Gene=ZNF717/NM_001290209.1/0;CC=c.-17C>A;VC=5UTR;DM=ZNF717/KRAB;DM=ZNF717/KRAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:A,G,T:68:54:0:0:1,61,6:8,1930,179:-0.31,0.00,12.01:-0.26,0.00,4.10:-0.06,0.00,7.90:0.00,0.00,0.80:0.00,0.00,0.97:0.00,0.00,0.91:27,44,42:87.0,14.4,238.8:0,0,5:0,0,0:90,70,92:61,75,50:0,32,19:-,NM_001128223.1(ZNF717) c.134C>A (p.Thr45Asn):-,NOT_FOUND:-,NOT_FOUND 3 75790888 . C . . NT END=75832456;NT GT ./. 3 75832194 rs10049424 G A 6 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.3754,A/0.6246,T/.;PC=0.011;Gene=ZNF717/NM_001290210.1/1;CC=c.57+263C>T;VC=Intron;Gene=ZNF717/NM_001128223.1/0;CC=c.57+263C>T;VC=Intron;Gene=ZNF717/NM_001290208.1/0;CC=c.57+263C>T;VC=Intron;Gene=ZNF717/NM_001290209.1/0;CC=c.-94+1872C>T;VC=Intron;DM=ZNF717/KRAB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:59:A,G:4:4:0:0:2,2:66,61:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:39.0,0.0:0,0:0,0:51,21:99,129:8,5:NM_001128223.1(ZNF717) c.57+263C>T,-:0.65,-:NOT_FOUND,- 3 75832514 . A . . NT END=75986644;NT GT ./. 3 75853846 rs12636037 G A 8 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.385,A/0.615;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:A,G:5:5:0:0:3,2:85,71:8.46,0.00:6.64,0.00:1.83,0.00:0.78,0.00:0.78,0.00:0.73,0.00:60,60:38.3,16.5:0,0:0,0:52,72:99,79:13,42:chr3 g.75853845G>A (intergenic),-:0.63,-:NOT_FOUND,- 3 75978012 rs60525375 CGTGT C 8 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=36;PC=0.023;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:CGTGT,I,C:7:6:1:5:3,1,3:94,33,122:0.00,2.70,8.44:0.00,1.32,2.69:0.00,1.38,5.75:0.00,0.00,0.67:0.00,0.00,0.93:0.00,0.00,0.90:60,60,60:67.7,0.0,38.0:0,0,1:0,0,0:100,76,30:38,75,112:11,0,12:-,NM_001128929.2(ROBO2) c.-13-8619_-13-8616delGTGT:-,NOT_FOUND:-,NOT_FOUND 3 75986409 rs62269815 G A 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=55;PC=0.049 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:A,G:5:5:0:0:3,2:97,68:9.67,0.00:9.67,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:39,42:53.7,17.0:0,0:0,0:55,15:96,134:47,11:NM_001128929.2(ROBO2) c.-13-223G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 75986540 rs372373529 C A 70 nt VT=SNV;PN=A;NN=A;SST=Single;DP=74;DB;DBA=NA;PAF=NA;NP=88;PC=0.007 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:74:74:0:0:25,49:788,1598:70.17,0.00:70.17,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:51,60:106.8,41.0:0,0:0,0:56,49:95,98:27,26:NM_001128929.2(ROBO2) c.-13-92C>A,-:NOT_FOUND,-:NOT_FOUND,- 3 75986542 rs62269816 A G 164 nt VT=SNV;PN=A;NN=T;SST=Single;DP=75;DB;DBA=NA;PAF=NA;NP=898;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:75:75:0:0:27,48:867,1622:0.00,163.83:0.00,164.06:0.00,-0.22:0.00,1.00:0.00,1.00:0.00,0.76:60,55:8.6,94.7:0,0:0,0:54,51:96,99:30,25:-,NM_001128929.2(ROBO2) c.-13-90A>G:-,NOT_FOUND:-,NOT_FOUND 3 75986622 rs9631539 C G 282 nt VT=SNV;PN=T;NN=A;SST=Single;DP=153;DB;DBA=NA;PAF=NA;NP=2472 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:153:139:0:0:65,88:2244,2855:0.00,282.04:0.00,234.57:0.00,47.47:0.00,1.00:0.00,1.00:0.00,1.00:60,55:9.8,130.6:0,0:0,0:45,57:105,93:25,43:-,NM_001128929.2(ROBO2) c.-13-10C>G:-,NOT_FOUND:-,NOT_FOUND 3 75986663 rs12171318 C A 384 lc VT=SNV;PN=A;NN=G;SST=Single;DP=202;DB;DBA=NA;PAF=NA;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:202:154:0:0:116,86:3881,2844:383.52,0.00:189.01,0.00:194.50,0.00:1.00,0.00:1.00,0.00:1.00,0.00:52,60:138.5,9.0:0,0:0,0:37,65:111,77:18,31:NM_001128929.2(ROBO2) c.19C>A (p.Arg7Ser),-:NOT_FOUND,-:NOT_FOUND,- 3 75986686 rs62269817 A G 417 lc VT=SNV;PN=C;NN=T;SST=Single;DP=223;DB;DBA=NA;PAF=NA;NP=2112;PC=0.328 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:223:153:0:0:95,128:3100,4218:0.00,416.73:0.00,163.15:0.00,253.58:0.00,1.00:0.00,1.00:0.00,1.00:60,52:8.1,142.2:0,0:0,0:81,47:63,96:29,19:-,NM_001128929.2(ROBO2) c.42A>G (p.(=)):-,NOT_FOUND:-,NOT_FOUND 3 75986695 rs79015247 G A 98 lc VT=SNV;PN=C;NN=G;SST=Single;DP=226;DB;DBA=NA;PAF=NA;NP=181 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:226:151:0:0:36,190:1234,5773:97.62,0.00:31.68,0.00:65.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:161.4,72.6:0,0:0,0:56,65:88,81:17,26:NM_001128929.2(ROBO2) c.51G>A (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75986717 rs78834776 G A 89 lc VT=SNV;PN=G;NN=T;SST=Single;DP=211;DB;DBA=NA;PAF=NA;NP=599;PC=0.023 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:211:120:0:0:35,175,1:1136,5638,10:89.27,0.00,-0.33:25.37,0.00,-0.13:63.91,0.00,-0.19:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,60,27:152.6,78.1,184.0:0,0,0:0,0,0:75,80,62:73,65,89:26,25,0:NM_001128929.2(ROBO2) c.73G>A (p.Val25Met),-:NOT_FOUND,-:NOT_FOUND,- 3 75986719 rs62269818 G C 430 lc VT=SNV;PN=T;NN=T;SST=Single;DP=211;DB;DBA=NA;PAF=NA;NP=2481;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:211:120:0:0:129,82:4295,2660:429.67,0.00:110.54,0.00:319.13,0.00:1.00,0.00:1.00,0.00:1.00,0.00:56,60:146.9,7.0:0,0:0,0:75,95:73,50:23,25:NM_001128929.2(ROBO2) c.75G>C (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 75986754 . G . . NT END=77089245;NT GT ./. 3 75986794 rs80235520 G A 234 nt VT=SNV;PN=C;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=NA;NP=2041;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:117:20:0:0:75,41,1:2314,1343,9:234.29,0.00,-0.09:16.03,0.00,-0.02:218.27,0.00,-0.07:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:51,60,60:158.5,21.7,49.0:0,0,0:0,0,0:125,93,53:26,58,98:16,41,0:NM_001128929.2(ROBO2) c.109+41G>A,-:NOT_FOUND,-:NOT_FOUND,- 3 75986813 rs77101234 T A 148 nt VT=SNV;PN=A;NN=A;SST=Single;DP=88;DB;DBA=NA;PAF=NA;NP=559;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:88:13:0:0:50,38:1499,1220:147.52,0.00:9.22,0.00:138.30,0.00:1.00,0.00:1.00,0.00:1.00,0.00:51,60:158.3,23.5:0,0:0,0:125,89:25,58:14,42:NM_001128929.2(ROBO2) c.109+60T>A,-:NOT_FOUND,-:NOT_FOUND,- 3 75986833 rs73123284 C T 102 nt VT=SNV;PN=T;NN=G;SST=Single;DP=68;DB;DBA=NA;PAF=NA;NP=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:68:1:0:0:35,33:975,1069:0.00,102.24:0.00,3.26:0.00,98.98:0.00,1.00:0.00,0.66:0.00,1.00:60,43:33.1,164.5:0,0:0,0:87,135:64,16:36,12:-,NM_001128929.2(ROBO2) c.109+80C>T:-,NOT_FOUND:-,NOT_FOUND 3 75986858 rs75670471 T C 41 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:0:0:0:14,26:460,773:41.45,0.00:0.00,0.00:41.45,0.00:1.00,0.00:0.00,0.00:1.00,0.00:50,60:184.5,38.5:0,0:0,0:144,86:6,64:5,25:NM_001128929.2(ROBO2) c.109+105T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 75986863 rs79216754 C G 26 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=NA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:36:0:0:0:27,9:829,301:0.00,25.61:0.00,0.00:0.00,25.61:0.00,0.99:0.00,0.00:0.00,0.99:60,50:40.3,186.6:0,0:0,0:87,135:63,16:29,7:-,NM_001128929.2(ROBO2) c.109+110C>G:-,NOT_FOUND:-,NOT_FOUND 3 75986874 rs7610755 G C 75 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.01518,C/0.9848;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:120:C,G:27:0:0:0:22,5:702,163:75.01,0.00:0.00,0.00:75.01,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,27:45.2,180.0:0,0:0,0:93,145:57,5:24,1:NM_001128929.2(ROBO2) c.109+121G>C,-:NOT_FOUND,-:NOT_FOUND,- 3 76195848 rs139527329 G GGT 7 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6446,GGT/0.3554;NP=101;PC=0.006;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:G,GGT,D:5:4:2:1:2,2,1:63,68,34:0.00,6.51,2.98:0.00,1.52,1.49:0.00,5.00,1.49:0.00,0.46,0.00:0.00,0.87,0.00:0.00,0.46,0.00:60,60,60:0.0,0.0,0.0:0,0,0:0,0,0:56,70,104:44,81,45:52,22,0:-,NM_001128929.2(ROBO2) c.109+209095_109+209096insGT:-,NOT_FOUND:-,NOT_FOUND 3 76310355 rs3039074 A G 17 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3854,G/0.6146;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:1:5:149:17.28:10.23:7.05:1.00:1.00:1.00:60:107.6:3:0:92:59:9:NM_001128929.2(ROBO2) c.109+323602A>G,NM_001128929.2(ROBO2) c.109+323602A>G:0.52,0.52:NOT_FOUND,NOT_FOUND 3 76310357 rs62261361 A G 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5691,G/0.4309 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:3:0:1:5:129:15.24:7.58:7.65:1.00:1.00:1.00:60:107.6:2:0:94:57:10:NM_001128929.2(ROBO2) c.109+323604A>G,NM_001128929.2(ROBO2) c.109+323604A>G:0.41,0.41:NOT_FOUND,NOT_FOUND 3 76483715 rs9846932 C T 79 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.3464,T/0.6536;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:29:0:0:22,25:680,807:0.00,78.52:0.00,32.98:0.00,45.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.7,43.5:0,0:0,0:61,82:90,67:31,24:-,NM_001128929.2(ROBO2) c.109+496962C>T:-,0.61:-,NOT_FOUND 3 76484183 rs3849491 T C 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.5619,C/0.4381;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:8:0:0:14,12:420,393:40.87,0.00:5.52,0.00:35.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.5,7.6:0,0:0,0:115,56:36,94:25,28:NM_001128929.2(ROBO2) c.109+497430T>C,-:0.45,-:NOT_FOUND,- 3 76484466 rs17736312 A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6583,G/0.3417;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:A,G:6:3:0:0:3,3:75,103:0.00,9.93:0.00,5.41:0.00,4.52:0.00,0.98:0.00,0.89:0.00,0.98:60,60:28.0,34.3:0,0:0,0:135,110:16,15:5,0:-,NM_001128929.2(ROBO2) c.109+497713A>G:-,0.36:-,NOT_FOUND 3 76521251 rs373251267 T TGTGC 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=146;NP=2;NP=7;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TGTGC:5:3:4:0:2,3:66,131:0.00,9.73:0.00,-0.10:0.00,9.83:0.00,0.98:0.00,0.89:0.00,0.98:60,70:0.0,11.0:0,1:0,0:126,94:25,56:12,15:-,NM_001128929.2(ROBO2) c.109+534498_109+534499insGTGC:-,NOT_FOUND:-,NOT_FOUND 3 77089095 rs9835590 C G 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5921,G/0.4079 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,C,G:13:13:0:0:1,4,8:8,125,246:0.19,0.00,25.07:0.19,0.00,25.07:0.00,0.00,0.00:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.00:60,60,60:79.0,23.2,37.8:0,0,0:0,0,0:112,73,60:33,77,91:0,29,13:-,NM_001128929.2(ROBO2) c.110-58070C>G:-,0.38:-,NOT_FOUND 3 77089395 rs3923745 T C 231 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=132;DB;DBA=NA;PAF=T/0.5132,C/0.4868;PC=0.556;Gene=ROBO2/NM_001290039.1/0;CC=c.-542T>C;VC=5UTR;Gene=ROBO2/NM_001290040.1/0;CC=c.-542T>C;VC=5UTR;Gene=ROBO2/NM_001290065.1/0;CC=c.-2460T>C;VC=5UTR;Gene=ROBO2/NM_002942.4/0;CC=c.-542T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:132:97:0:0:73,59:2361,1835:231.48,0.00:150.28,0.00:81.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,6.3:0,0:0,0:61,70:80,69:31,41:NM_001128929.2(ROBO2) c.110-57770T>C,-:0.44,-:NOT_FOUND,- 3 77089699 rs3923744 T G 145 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=T/0.8157,G/0.1843;PC=0.675;Gene=ROBO2/NM_001290039.1/0;CC=c.-238T>G;VC=5UTR;Gene=ROBO2/NM_001290040.1/0;CC=c.-238T>G;VC=5UTR;Gene=ROBO2/NM_001290065.1/0;CC=c.-2156T>G;VC=5UTR;Gene=ROBO2/NM_002942.4/0;CC=c.-238T>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:118:68:0:0:1,50,67:10,1562,2111:-0.15,145.36,0.00:-0.02,56.27,0.00:-0.13,89.09,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:167.0,36.3,6.5:0,0,0:0,0,0:75,86,61:76,64,86:0,40,43:NM_001128929.2(ROBO2) c.110-57466T>G,-:0.2,-:NOT_FOUND,- 3 77089998 . G . . NT END=77147164;NT GT ./. 3 77147039 rs9873691 C A 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=28;DB;DBA=NA;PAF=C/0.6791,A/0.3209;Gene=ROBO2/NM_001290039.1/0;CC=c.62-126C>A;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.62-126C>A;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1857-126C>A;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.62-126C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:28:28:0:0:14,14:430,461:41.22,0.00:41.22,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:46.9,10.1:0,0:0,0:36,55:114,95:18,39:NM_001128929.2(ROBO2) c.110-126C>A,-:0.3,-:NOT_FOUND,- 3 77147492 . G . . NT END=77526564;NT GT ./. 3 77214084 . G A 13 sb,nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;NP=41;Gene=ROBO2/NM_001290039.1/0;CC=c.388+66593G>A;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.388+66593G>A;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1531+66593G>A;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.388+66593G>A;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.329+66593G>A;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:1:0:0:4:109:12.79:1.94:10.85:1.00:1.00:1.00:58:142.8:1:0:39:105:9:NM_001128929.2(ROBO2) c.436+66593G>A,NM_001128929.2(ROBO2) c.436+66593G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 77214091 rs372969810 GC G 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=48;Gene=ROBO2/NM_001290039.1/0;CC=c.388+66601delC;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.388+66601delC;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1531+66601delC;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.388+66601delC;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.329+66601delC;VC=Intron;DM=ROBO2/I-set;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:19:GC,G:4:1:0:3:1,3:24,62:0.00,6.64:0.00,1.68:0.00,4.96:0.00,0.85:0.00,0.83:0.00,0.85:24,58:102.0,155.0:1,0:0,0:16,55:134,96:0,0:-,NM_001128929.2(ROBO2) c.436+66601delC:-,NOT_FOUND:-,NOT_FOUND 3 77214117 rs530776120 C T 16 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6591,T/0.3409;NP=203;Gene=ROBO2/NM_001290039.1/0;CC=c.388+66626C>T;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.388+66626C>T;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1531+66626C>T;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.388+66626C>T;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.329+66626C>T;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:137:15.61:1.99:13.62:1.00:1.00:1.00:58:142.8:0:0:71:73:9:NM_001128929.2(ROBO2) c.436+66626C>T,NM_001128929.2(ROBO2) c.436+66626C>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 77214126 rs112458515 C T 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.6589,T/0.3411;Gene=ROBO2/NM_001290039.1/0;CC=c.388+66635C>T;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.388+66635C>T;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1531+66635C>T;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.388+66635C>T;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.329+66635C>T;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:136:15.51:2.04:13.47:1.00:1.00:1.00:58:141.8:0:0:80:64:9:NM_001128929.2(ROBO2) c.436+66635C>T,NM_001128929.2(ROBO2) c.436+66635C>T:0.33,0.33:NOT_FOUND,NOT_FOUND 3 77295478 rs78637179 A G,ATGTG 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=58;NP=6;NP=6;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:4:A,G,ATGTG:4:2:2:0:1,1,2:33,35,68:0.00,3.25,6.85:0.00,3.38,3.58:0.00,-0.13,3.28:0.00,0.00,0.51:0.00,0.00,0.79:0.00,0.00,0.79:60,60,60:33.0,57.0,23.0:0,0,0:0,0,0:124,49,89:26,102,62:0,0,6:NM_001128929.2(ROBO2) c.436+147987A>G,NM_001128929.2(ROBO2) c.436+147987_436+147988insTGTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 77365899 rs9820365 T C 27 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.857,C/0.143;Gene=ROBO2/NM_001290039.1/0;CC=c.389-160666T>C;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.389-160666T>C;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1530-160666T>C;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.389-160666T>C;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.330-160666T>C;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:15:0:0:8,8:277,256:26.70,0.00:19.65,0.00:7.05,0.00:1.00,0.00:1.00,0.00:0.51,0.00:60,60:34.9,12.1:0,0:0,0:47,56:96,84:20,28:NM_001128929.2(ROBO2) c.437-160666T>C,-:0.15,-:NOT_FOUND,- 3 77437292 rs71104681 TAC T 14 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=226;Gene=ROBO2/NM_001290039.1/0;CC=c.389-89243_389-89242delCA;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.389-89243_389-89242delCA;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1530-89243_-1530-89242delCA;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.389-89243_389-89242delCA;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.330-89243_330-89242delCA;VC=Intron;DM=ROBO2/I-set;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:TAC,T:5:5:0:5:1,4:34,166:0.00,13.93:0.00,7.06:0.00,6.86:0.00,0.93:0.00,0.99:0.00,0.99:60,60:33.0,0.0:0,1:0,0:142,54:9,81:0,16:-,NM_001128929.2(ROBO2) c.437-89272_437-89271delAC:-,NOT_FOUND:-,NOT_FOUND 3 77459727 . C T 6 end,nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;PC=0.005;Gene=ROBO2/NM_001290039.1/0;CC=c.389-66838C>T;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.389-66838C>T;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1530-66838C>T;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.389-66838C>T;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.330-66838C>T;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:11:5:0:0:8,3:240,77:0.00,6.34:0.00,1.03:0.00,5.30:0.00,0.60:0.00,0.78:0.00,0.93:70,60:92.1,47.7:1,0:0,0:90,143:59,5:12,3:-,NM_001128929.2(ROBO2) c.437-66838C>T:-,NOT_FOUND:-,NOT_FOUND 3 77459765 . CCTTCTT C 8 nt VT=DEL;SST=Single;DP=13;NP=8;PC=0.001;Gene=ROBO2/NM_001290039.1/0;CC=c.389-66797_389-66792delTCTTCT;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.389-66797_389-66792delTCTTCT;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1530-66797_-1530-66792delTCTTCT;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.389-66797_389-66792delTCTTCT;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.330-66797_330-66792delTCTTCT;VC=Intron;DM=ROBO2/I-set;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:CCTTCTT,C:13:8:0:4:10,3:300,96:0.00,7.99:0.00,0.74:0.00,7.25:0.00,0.58:0.00,0.84:0.00,0.84:70,60:99.6,70.3:0,0:0,0:25,128:125,21:24,3:-,NM_001128929.2(ROBO2) c.437-66799_437-66794delCTTCTT:-,NOT_FOUND:-,NOT_FOUND 3 77459789 . G C 17 sb,nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;NP=1;Gene=ROBO2/NM_001290039.1/0;CC=c.389-66776G>C;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.389-66776G>C;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1530-66776G>C;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.389-66776G>C;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.330-66776G>C;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:15:7:0:0:8,7:179,204:17.13,0.00:0.84,0.00:16.29,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,70:83.4,79.4:0,0:0,0:121,25:22,121:25,12:NM_001128929.2(ROBO2) c.437-66776G>C,-:NOT_FOUND,-:NOT_FOUND,- 3 77459798 . T C 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;Gene=ROBO2/NM_001290039.1/0;CC=c.389-66767T>C;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.389-66767T>C;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1530-66767T>C;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.389-66767T>C;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.330-66767T>C;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:72:C,T:11:6:0:3:3,8:81,179:6.75,0.00:0.89,0.00:5.85,0.00:0.60,0.00:0.83,0.00:0.83,0.00:60,70:148.7,65.9:0,0:0,0:120,45:21,104:21,21:NM_001128929.2(ROBO2) c.437-66767T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 77459994 rs13065816 T C 15 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2714,C/0.7286;PC=0.033;Gene=ROBO2/NM_001290039.1/0;CC=c.389-66571T>C;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.389-66571T>C;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1530-66571T>C;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.389-66571T>C;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.330-66571T>C;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:133:15.21:1.94:13.27:1.00:1.00:1.00:60:68.8:0:0:80:48:10:NM_001128929.2(ROBO2) c.437-66571T>C,NM_001128929.2(ROBO2) c.437-66571T>C:0.69,0.69:NOT_FOUND,NOT_FOUND 3 77526723 . G . . NT END=77530249;NT GT ./. 3 77530371 . G . . NT END=77542394;NT GT ./. 3 77533659 rs71692432 AAC A 13 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=30;Gene=ROBO2/NM_001290039.1/0;CC=c.667+3323_667+3324delCA;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.667+3323_667+3324delCA;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-1252+3323_-1252+3324delCA;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.667+3323_667+3324delCA;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.608+3323_608+3324delCA;VC=Intron;DM=ROBO2/I-set;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:AAC,A:6:6:0:6:2,4:65,158:0.00,12.80:0.00,9.68:0.00,3.12:0.00,0.90:0.00,0.99:0.00,0.98:60,60:16.0,10.8:0,1:0,0:105,75:20,76:35,23:-,NM_001128929.2(ROBO2) c.715+3290_715+3291delAC:-,NOT_FOUND:-,NOT_FOUND 3 77542534 . G . . NT END=77571925;NT GT ./. 3 77572054 . G . . NT END=77576553;NT GT ./. 3 77576566 . G . . NT END=77595488;NT GT ./. 3 77595614 . G . . NT END=77599968;NT GT ./. 3 77595835 rs699451 A G 35 nt VT=SNV;PN=A;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.4295,G/0.5705;Gene=ROBO2/NM_001290039.1/0;CC=c.1071+222A>G;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1071+222A>G;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-860+222A>G;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1059+222A>G;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1000+222A>G;VC=Intron;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:0:0:0:10:306:35.32:0.00:35.32:1.00:0.00:1.00:60:60.4:0:0:91:60:34:NM_001128929.2(ROBO2) c.1107+222A>G,NM_001128929.2(ROBO2) c.1107+222A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 3 77595880 rs699452 A G 23 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4275,G/0.5725;PC=0.001;Gene=ROBO2/NM_001290039.1/0;CC=c.1071+267A>G;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1071+267A>G;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-860+267A>G;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1059+267A>G;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1000+267A>G;VC=Intron;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:200:23.28:0.00:23.28:1.00:0.00:1.00:60:67.7:0:0:86:64:31:NM_001128929.2(ROBO2) c.1107+267A>G,NM_001128929.2(ROBO2) c.1107+267A>G:0.57,0.57:NOT_FOUND,NOT_FOUND 3 77599763 rs2029004 C T 31 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.4537,T/0.5463;Gene=ROBO2/NM_001290039.1/0;CC=c.1072-206C>T;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1072-206C>T;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-859-206C>T;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1060-206C>T;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1001-206C>T;VC=Intron;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:T:9:9:0:0:9:268:31.02:31.02:0.00:1.00:1.00:0.00:60:37.7:0:0:32:118:13:NM_001128929.2(ROBO2) c.1108-206C>T,NM_001128929.2(ROBO2) c.1108-206C>T:0.54,0.54:NOT_FOUND,NOT_FOUND 3 77600141 . G . . NT END=77607094;NT GT ./. 3 77600273 rs3796291 C A 73 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.4327,A/0.5673;Gene=ROBO2/NM_001290039.1/0;CC=c.1243+133C>A;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1243+133C>A;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-688+133C>A;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1231+133C>A;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1172+133C>A;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:A:21:0:0:0:21:633:73.19:0.00:73.19:1.00:0.00:1.00:60:47.8:0:0:105:45:36:NM_001128929.2(ROBO2) c.1279+133C>A,NM_001128929.2(ROBO2) c.1279+133C>A:0.56,0.56:NOT_FOUND,NOT_FOUND 3 77600326 rs3796292 C T 39 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.4327,T/0.5673;Gene=ROBO2/NM_001290039.1/0;CC=c.1243+186C>T;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1243+186C>T;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-688+186C>T;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1231+186C>T;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1172+186C>T;VC=Intron;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:338:38.57:0.00:38.57:1.00:0.00:1.00:60:63.9:0:0:103:48:18:NM_001128929.2(ROBO2) c.1279+186C>T,NM_001128929.2(ROBO2) c.1279+186C>T:0.56,0.56:NOT_FOUND,NOT_FOUND 3 77607070 rs5850333 A AC 111 nt VT=INS;SST=Single;DP=32;DB;DBA=NA;PAF=A/0.1953,AC/0.8047;DB;DBA=NA;PAF=A/0.1953,AC/0.8047;NP=3157;Gene=ROBO2/NM_001290039.1/0;CC=c.1244-23dupC;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1244-23dupC;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-687-23dupC;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1232-23dupC;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1173-23dupC;VC=Intron;DM=ROBO2/I-set;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:54:A,AC:32:31:31:0:1,31:32,978:0.00,110.64:0.00,91.72:0.00,18.92:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,3.3:1,0:0,0:142,73:8,75:0,31:NM_001128929.2(ROBO2) c.1280-25_1280-24insC,NM_001128929.2(ROBO2) c.1280-25_1280-24insC:0.8,0.8:0.742083,0.742083 3 77607301 . G . . NT END=77611801;NT GT ./. 3 77607333 rs17525412 A G 61 nt VT=SNV;PN=C;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.9796,G/0.02037;Gene=ROBO2/NM_001290039.1/0;CC=c.1449+33A>G;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1449+33A>G;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.-482+33A>G;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1437+33A>G;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1378+33A>G;VC=Intron;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set;DM=ROBO2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:12:0:0:25,20:840,648:0.00,60.91:0.00,11.20:0.00,49.71:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.2,36.5:0,0:0,0:101,99:50,51:31,20:-,NM_001128929.2(ROBO2) c.1485+33A>G:-,0.02:-,0.032947 3 77611884 . G . . NT END=77612317;NT GT ./. 3 77612481 . G . . NT END=77614104;NT GT ./. 3 77614272 . G . . NT END=77617463;NT GT ./. 3 77617219 rs775713 C G 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3389,G/0.6611;Gene=ROBO2/NM_001290039.1/0;CC=c.1862-245C>G;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1862-245C>G;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.71-245C>G;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1850-245C>G;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1791-245C>G;VC=Intron;DM=ROBO2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:G:5:5:0:0:5:144:16.73:16.73:0.00:1.00:1.00:0.00:60:77.2:0:0:82:69:5:NM_001128929.2(ROBO2) c.1898-245C>G,NM_001128929.2(ROBO2) c.1898-245C>G:0.65,0.65:NOT_FOUND,NOT_FOUND 3 77617586 . G . . NT END=77623649;NT GT ./. 3 77621787 rs71104692 A AAC 13 sb,rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.3852,AAC/0.6148,AACAC/.;DB;DBA=NA;PAF=A/0.3852,AAC/0.6148;NP=211;NP=8;PC=0.001;Gene=ROBO2/NM_001290039.1/0;CC=c.1984-1831_1984-1830insAC;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.1984-1831_1984-1830insAC;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.193-1831_193-1830insAC;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.1972-1831_1972-1830insAC;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.1913-1831_1913-1830insAC;VC=Intron;DM=ROBO2/fn3;DM=ROBO2/fn3;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:A,AAC:6:6:4:0:2,4:68,132:0.00,13.45:0.00,11.89:0.00,1.56:0.00,0.93:0.00,0.93:0.00,0.91:60,60:0.0,5.5:0,0:0,0:105,59:30,91:5,31:-,NM_001128929.2(ROBO2) c.2020-1863_2020-1862insAC:-,NOT_FOUND:-,NOT_FOUND 3 77623882 . G . . NT END=77626640;NT GT ./. 3 77626766 . G . . NT END=77629097;NT GT ./. 3 77629270 . G . . NT END=77637901;NT GT ./. 3 77629576 rs4324452 A C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.4014,C/0.5986;Gene=ROBO2/NM_001290039.1/0;CC=c.2512+307A>C;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.2512+307A>C;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.721+307A>C;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.2500+307A>C;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.2441+307A>C;VC=Intron;DM=ROBO2/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:144:16.74:0.00:16.74:1.00:0.00:1.00:60:50.6:0:0:84:67:40:NM_001128929.2(ROBO2) c.2548+307A>C,NM_001128929.2(ROBO2) c.2548+307A>C:0.58,0.58:NOT_FOUND,NOT_FOUND 3 77638085 . G . . NT END=77644292;NT GT ./. 3 77644039 rs775720 A G 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3998,G/0.6002;PC=0.003;Gene=ROBO2/NM_001290039.1/0;CC=c.2696-254A>G;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.2696-254A>G;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.905-254A>G;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.2684-254A>G;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.2625-254A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:147:17.08:17.08:0.00:1.00:1.00:0.00:60:29.4:0:0:77:74:39:NM_001128929.2(ROBO2) c.2732-254A>G,NM_001128929.2(ROBO2) c.2732-254A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 3 77644336 . G . . NT END=77645773;NT GT ./. 3 77645902 . G . . NT END=77651360;NT GT ./. 3 77645946 rs529428999 CT C 65 idl,rn VT=DEL;SST=Single;DP=69;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=277;PC=0.056;Gene=ROBO2/NM_001290039.1/0;CC=c.2866+58delT;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.2866+58delT;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.1075+58delT;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.2854+58delT;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.2795+58delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,G,I,C:64:26:1:28:39,1,1,23:1232,13,33,864:0.00,0.01,1.69,64.64:0.00,-0.07,-0.07,8.31:0.00,0.08,1.76,56.33:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:21.8,64.0,0.0,38.8:0,0,0,5:0,0,0,0:105,113,113,94:24,38,38,55:30,0,0,24:-,NM_001128929.2(ROBO2) c.2902+46delT:-,NOT_FOUND:-,NOT_FOUND 3 77645984 rs775718 A G 167 nt VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.3998,G/0.6002;Gene=ROBO2/NM_001290039.1/0;CC=c.2866+83A>G;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.2866+83A>G;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.1075+83A>G;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.2854+83A>G;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.2795+83A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:G:45:10:0:0:45:1459:167.28:21.38:145.90:1.00:1.00:1.00:60:41.2:0:0:111:38:26:NM_001128929.2(ROBO2) c.2902+83A>G,NM_001128929.2(ROBO2) c.2902+83A>G:0.59,0.59:NOT_FOUND,NOT_FOUND 3 77651643 . G . . NT END=77656948;NT GT ./. 3 77657106 . G . . NT END=77666663;NT GT ./. 3 77666925 . G . . NT END=77671377;NT GT ./. 3 77667044 rs1523768 G A 30 nt VT=SNV;PN=T;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.1941,A/0.8059;Gene=ROBO2/NM_001290039.1/0;CC=c.3566+120G>A;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.3566+120G>A;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.1775+120G>A;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.3554+120G>A;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.3495+120G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:26:2:0:0:11,15:323,504:29.82,0.00:-0.24,0.00:30.06,0.00:1.00,0.00:0.72,0.00:1.00,0.00:60,60:41.8,12.2:0,0:0,0:113,100:37,50:27,17:NM_001128929.2(ROBO2) c.3602+120G>A,-:0.79,-:NOT_FOUND,- 3 77671584 . G . . NT END=77681624;NT GT ./. 3 77671721 rs2272163 C A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.6114,A/0.3886;PC=1.000;Gene=ROBO2/NM_001290039.1/0;CC=c.3772+138C>A;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.3772+138C>A;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.1981+138C>A;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.3760+138C>A;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.3701+138C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:17:0:0:0:9,8:269,220:26.04,0.00:0.00,0.00:26.04,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:37.2,5.8:0,0:0,0:50,126:100,24:29,21:NM_001128929.2(ROBO2) c.3808+138C>A,-:0.36,-:NOT_FOUND,- 3 77681808 . G . . NT END=77684020;NT GT ./. 3 77681865 rs1451617 T A 54 nt VT=SNV;PN=G;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.2059,A/0.7941;PC=0.001;Gene=ROBO2/NM_001290039.1/0;CC=c.3773-2156T>A;VC=Intron;Gene=ROBO2/NM_001290040.1/0;CC=c.3955+58T>A;VC=Intron;Gene=ROBO2/NM_001290065.1/0;CC=c.1982-2156T>A;VC=Intron;Gene=ROBO2/NM_002942.4/0;CC=c.3761-2156T>A;VC=Intron;Gene=ROBO2/NM_001128929.3/1;CC=c.3702-2156T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:9:0:0:21,24:580,739:54.47,0.00:6.02,0.00:48.44,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:32.5,9.0:0,0:0,0:111,108:40,42:23,27:NM_001128929.2(ROBO2) c.3809-2156T>A,-:0.78,-:NOT_FOUND,- 3 77684195 . G . . NT END=77693854;NT GT ./. 3 77694056 . G . . NT END=77695204;NT GT ./. 3 77695207 . T . . NT END=78648062;NT GT ./. 3 77760799 rs551341510 A AT 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1819,AT/0.8181;DB;DBA=NA;PAF=A/0.1819,AT/0.8181;DB;DBA=NA;PAF=A/0.1819,AT/0.8181;NP=723;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:A,AT:5:5:3:0:2,3:68,91:0.00,9.07:0.00,7.29:0.00,1.78:0.00,0.78:0.00,0.78:0.00,0.73:60,60:0.0,7.0:0,0:0,0:82,69:68,82:4,0:-,chr3 g.77760799_77760800insT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 78155126 rs71629678 A ATGTG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8676,G/0.1324;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.002;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:A,ATGTG:5:5:4:0:2,3:69,129:0.00,9.73:0.00,6.50:0.00,3.23:0.00,0.98:0.00,0.96:0.00,0.51:60,60:89.5,16.7:0,1:0,0:32,64:82,86:20,3:-,chr3 g.78155126_78155127insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 78369536 rs143176513 T G 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.998,G/0.001997;NP=3;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:128:14.71:9.14:5.57:1.00:1.00:1.00:60:45.8:0:0:39:63:14:chr3 g.78369535T>G (intergenic),chr3 g.78369535T>G (intergenic):0.0037,0.0037:NOT_FOUND,NOT_FOUND 3 78441383 rs6800740 G A 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.0631,A/0.9369 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:5:0:0:7:216:24.94:8.94:15.99:1.00:1.00:1.00:60:89.9:0:0:59:88:34:chr3 g.78441382G>A (intergenic),chr3 g.78441382G>A (intergenic):0.93,0.93:NOT_FOUND,NOT_FOUND 3 78441394 rs13061965 A G 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.2961,G/0.7039;PC=0.174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,G:8:6:0:0:2,6:41,183:0.00,19.21:0.00,6.63:0.00,12.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:49.0,82.0:2,3:0,0:20,70:111,59:15,30:-,chr3 g.78441393A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 78441395 rs71629689 A AGT 9 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=61;PC=0.295;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,AGT,D:8:6:3:2:3,3,2:78,91,57:0.00,8.65,5.08:0.00,4.52,3.90:0.00,4.12,1.18:0.00,0.67,0.00:0.00,0.93,0.00:0.00,0.95,0.00:60,60,60:91.0,73.0,49.0:0,0,0:0,0,0:107,47,21:41,83,110:0,24,15:-,chr3 g.78441395_78441396insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 78648078 . C . . NT END=78649262;NT GT ./. 3 78649460 . C . . NT END=78655882;NT GT ./. 3 78656192 . C . . NT END=78663797;NT GT ./. 3 78656351 rs9831685 A T 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.01817,T/0.9818;PC=0.272;Gene=ROBO1/NM_001145845.1/0;CC=c.4136-160T>A;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4301-160T>A;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4436-160T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:0:0:0:10:316:36.37:0.00:36.37:1.00:0.00:1.00:60:36.6:0:0:116:34:12:NM_002941.3(ROBO1) c.4436-160T>A,NM_002941.3(ROBO1) c.4436-160T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 78663634 rs2872006 T C 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.649,C/0.351;Gene=ROBO1/NM_001145845.1/0;CC=c.4135+164A>G;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4300+164A>G;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4435+164A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:23:0:0:15,8:451,255:45.81,0.00:45.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:66.2,13.6:0,0:0,0:30,11:120,134:24,8:NM_002941.3(ROBO1) c.4435+164A>G,-:0.35,-:NOT_FOUND,- 3 78663656 rs2872005 C T 51 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.7051,T/0.2949;PC=0.001;Gene=ROBO1/NM_001145845.1/0;CC=c.4135+142G>A;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4300+142G>A;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4435+142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:29:29:0:0:12,17:411,515:0.00,51.04:0.00,51.04:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:9.1,62.2:0,0:0,0:25,49:126,102:8,24:-,NM_002941.3(ROBO1) c.4435+142G>A:-,0.31:-,NOT_FOUND 3 78663951 . C . . NT END=78666784;NT GT ./. 3 78663956 rs1027832 G A 157 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.6466,A/0.3534;PC=0.001;Gene=ROBO1/NM_001145845.1/0;CC=c.3983-6C>T;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4148-6C>T;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4283-6C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G,I:115:53:1:0:53,1,60,1:1662,18,1791,21:157.50,0.19,0.00,0.40:58.50,-0.08,0.00,-0.08:98.99,0.28,0.00,0.49:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00:60,60,60,60:56.9,157.0,11.6,75.0:16,0,14,0:0,0,0,0:87,102,94,73:62,48,50,76:23,0,40,0:NM_002941.3(ROBO1) c.4283-6C>T,-:0.33,-:0.350212,- 3 78663958 . GA G 31 idl,rn VT=DEL;SST=Single;DP=106;NP=11;PC=0.006;Gene=ROBO1/NM_001145845.1/0;CC=c.3983-9delT;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4148-9delT;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4283-9delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,GA,I,G:104:44:13:16:8,70,13,13:95,2046,389,476:2.98,0.00,29.31,31.40:-0.85,0.00,14.04,5.75:3.82,0.00,15.27,25.66:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.98:0.00,0.00,0.00,1.00:60,60,60,60:90.2,27.6,41.6,29.7:1,0,0,2:0,0,0,0:55,98,86,99:95,48,61,51:31,31,22,20:-,NM_002941.3(ROBO1) c.4283-9delT:-,NOT_FOUND:-,NOT_FOUND 3 78664093 rs1027833 C T 127 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.5539,T/0.4461;Gene=ROBO1/NM_001145845.1/0;CC=c.3983-143G>A;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4148-143G>A;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4283-143G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:101:T:38:0:0:0:38:1096:127.26:0.00:127.26:1.00:0.00:1.00:60:48.8:0:0:88:63:26:NM_002941.3(ROBO1) c.4283-143G>A,NM_002941.3(ROBO1) c.4283-143G>A:0.43,0.43:NOT_FOUND,NOT_FOUND 3 78666656 . TA T 39 idl,rn VT=DEL;SST=Single;DP=40;NP=18;PC=0.002;Gene=ROBO1/NM_001145845.1/0;CC=c.3982+128delT;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4147+128delT;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4282+128delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,I,T:32:40:10:17:13,6,13:444,311,532:0.00,15.11,39.04:0.00,15.11,37.40:0.00,0.00,1.64:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.55:60,60,60:20.5,68.7,30.4:0,4,4:0,0,0:71,52,46:79,98,87:53,30,29:-,NM_002941.3(ROBO1) c.4282+128delT:-,NOT_FOUND:-,NOT_FOUND 3 78666765 rs9839790 T C 150 nt VT=SNV;PN=G;NN=G;SST=Single;DP=124;DB;DBA=NA;PAF=T/0.4245,C/0.5755;Gene=ROBO1/NM_001145845.1/0;CC=c.3982+20A>G;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.4147+20A>G;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.4282+20A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:124:110:0:0:51,73:1625,2215:150.33,0.00:109.96,0.00:40.37,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.0,4.4:0,0:0,0:55,40:90,102:27,20:NM_002941.3(ROBO1) c.4282+20A>G,-:0.59,-:0.619524,- 3 78667192 . C . . NT END=78676470;NT GT ./. 3 78675999 rs3773206 C G 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6793,G/0.3207;Gene=ROBO1/NM_001145845.1/0;CC=c.3575+472G>C;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.3740+472G>C;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.3875+472G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:C,G:6:3:0:0:3,3:97,103:0.00,9.93:0.00,3.28:0.00,6.65:0.00,0.98:0.00,0.89:0.00,0.96:60,60:11.7,80.0:0,0:0,0:145,116:6,27:2,2:-,NM_002941.3(ROBO1) c.3875+472G>C:-,0.33:-,NOT_FOUND 3 78676422 rs7614084 G A 86 nt VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.6627,A/0.3373;Gene=ROBO1/NM_001145845.1/0;CC=c.3575+49C>T;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.3740+49C>T;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.3875+49C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:68:0:0:30,45:938,1399:86.18,0.00:73.76,0.00:12.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:63.0,9.3:0,0:0,0:49,39:101,112:26,23:NM_002941.3(ROBO1) c.3875+49C>T,-:0.35,-:0.364761,- 3 78676467 rs7636043 A G 174 nt VT=SNV;PN=C;NN=T;SST=Single;DP=120;DB;DBA=NA;PAF=A/0.03015,G/0.9698;Gene=ROBO1/NM_001145845.1/0;CC=c.3575+4T>C;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.3740+4T>C;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.3875+4T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:120:104:0:0:63,57:2096,1832:0.00,174.36:0.00,134.78:0.00,39.58:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.5,47.0:0,0:0,0:50,32:97,114:26,20:-,NM_002941.3(ROBO1) c.3875+4T>C:-,0.98:-,0.973458 3 78676720 . C . . NT END=78680310;NT GT ./. 3 78680111 rs190218143 T C 9 nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.9982,C/0.001797;NP=5;PC=0.148;Gene=ROBO1/NM_001145845.1/0;CC=c.3326+200A>G;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.3491+200A>G;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.3626+200A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:90:C,T:11:11:0:0:3,8:100,261:8.63,0.00:8.63,0.00:0.00,0.00:0.60,0.00:0.60,0.00:0.00,0.00:60,60:48.3,11.5:0,0:0,0:55,27:95,123:9,17:NM_002941.3(ROBO1) c.3626+200A>G,-:0.0032,-:NOT_FOUND,- 3 78680456 . C . . NT END=78683084;NT GT ./. 3 78680578 rs6548592 T C 43 nt VT=SNV;PN=A;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.5312,C/0.4688;Gene=ROBO1/NM_001145845.1/0;CC=c.3182-123A>G;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.3347-123A>G;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.3482-123A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:25:1:0:0:14,11:435,355:42.73,0.00:1.81,0.00:40.92,0.00:1.00,0.00:0.71,0.00:1.00,0.00:60,60:43.9,5.2:0,0:0,0:77,100:70,51:35,20:NM_002941.3(ROBO1) c.3482-123A>G,-:0.46,-:NOT_FOUND,- 3 78683193 . C . . NT END=78684922;NT GT ./. 3 78685259 . C . . NT END=78688893;NT GT ./. 3 78688811 rs73106134 C T 80 nt VT=SNV;PN=C;NN=A;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.989,T/0.01098;Gene=ROBO1/NM_001145845.1/0;CC=c.2902+83G>A;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.2902+83G>A;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.3037+83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:47:47:0:0:23,24:719,826:0.00,79.92:0.00,80.23:0.00,-0.31:0.00,1.00:0.00,1.00:0.00,0.80:60,60:6.6,37.4:0,0:0,0:47,55:103,96:25,32:-,NM_002941.3(ROBO1) c.3037+83G>A:-,0.02:-,NOT_FOUND 3 78689049 . C . . NT END=78695297;NT GT ./. 3 78695185 rs73108203 A G 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.8784,G/0.1216;PC=0.007;Gene=ROBO1/NM_001145845.1/0;CC=c.2747+113T>C;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.2747+113T>C;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.2882+113T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:4:0:0:5:165:18.88:15.91:2.98:1.00:1.00:1.00:60:37.4:0:0:27:124:22:NM_002941.3(ROBO1) c.2882+113T>C,NM_002941.3(ROBO1) c.2882+113T>C:0.12,0.12:NOT_FOUND,NOT_FOUND 3 78695341 . C . . NT END=78696778;NT GT ./. 3 78696806 . C . . NT END=78700881;NT GT ./. 3 78700779 rs3925684 C A 53 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.02995,A/0.97;Gene=ROBO1/NM_001145845.1/0;CC=c.2704+103G>T;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.2704+103G>T;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.2812+103G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:15:0:0:15:455:52.61:50.77:1.84:1.00:1.00:1.00:60:43.3:0:0:43:108:22:NM_002941.3(ROBO1) c.2812+103G>T,NM_002941.3(ROBO1) c.2812+103G>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 78701080 . C . . NT END=78706247;NT GT ./. 3 78701217 rs7619956 A G 94 nt VT=SNV;PN=A;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.1192,G/0.8808;Gene=ROBO1/NM_001145845.1/0;CC=c.2507-138T>C;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.2507-138T>C;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.2615-138T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:C,G:27:0:0:0:1,26:26,818:1.65,93.72:0.00,0.00:1.65,93.72:0.00,1.00:0.00,0.00:0.00,1.00:60,60:72.0,48.4:0,0:0,0:46,109:102,42:0,25:NM_002941.3(ROBO1) c.2615-138T>C,NM_002941.3(ROBO1) c.2615-138T>C:0.91,0.91:NOT_FOUND,NOT_FOUND 3 78706420 . C . . NT END=78708835;NT GT ./. 3 78708958 . C . . NT END=78710179;NT GT ./. 3 78709068 rs76880412 CTTTT C 28 idl,nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;NP=27;PC=0.315;Gene=ROBO1/NM_001145845.1/0;CC=c.2213-115_2213-112delAAAA;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.2213-115_2213-112delAAAA;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.2321-115_2321-112delAAAA;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CTTTT,C:19:4:0:15:9,10:304,404:0.00,27.92:0.00,3.14:0.00,24.78:0.00,1.00:0.00,0.90:0.00,1.00:60,60:10.1,33.8:0,4:0,0:133,97:17,53:5,21:-,NM_002941.3(ROBO1) c.2321-115_2321-112delAAAA:-,NOT_FOUND:-,NOT_FOUND 3 78709159 rs2118068 C T 40 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2825,T/0.7175;PC=0.529;Gene=ROBO1/NM_001145845.1/0;CC=c.2213-202G>A;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.2213-202G>A;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.2321-202G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:1:0:0:11:344:39.62:1.94:37.69:1.00:1.00:1.00:60:39.3:0:0:83:67:38:NM_002941.3(ROBO1) c.2321-202G>A,NM_002941.3(ROBO1) c.2321-202G>A:0.7,0.7:NOT_FOUND,NOT_FOUND 3 78710412 . C . . NT END=78711142;NT GT ./. 3 78711265 . C . . NT END=78717032;NT GT ./. 3 78711350 rs9864412 T C 107 nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.6647,C/0.3353;Gene=ROBO1/NM_001145845.1/0;CC=c.1859-86A>G;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.1859-86A>G;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.1967-86A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:42:A,C:37:7:0:0:4,33:37,931:2.08,106.94:0.00,15.98:2.08,90.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:140.2,53.5:0,0:0,0:62,113:84,37:29,27:NM_002941.3(ROBO1) c.1967-86A>G,NM_002941.3(ROBO1) c.1967-86A>G:0.35,0.35:NOT_FOUND,NOT_FOUND 3 78711394 rs11359455 GA G 22 idl,rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=GA/0.4383,G/0.5617;NP=32;PC=0.015;Gene=ROBO1/NM_001145845.1/0;CC=c.1859-131delT;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.1859-131delT;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.1967-131delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:GA,G:15:2:0:12:7,8:185,330:0.00,21.56:0.00,1.58:0.00,19.98:0.00,0.99:0.00,0.72:0.00,0.99:60,60:78.1,129.6:0,4:0,0:127,106:12,40:19,17:-,NM_002941.3(ROBO1) c.1967-131delT:-,NOT_FOUND:-,NOT_FOUND 3 78711485 rs7634971 A G 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=270;Gene=ROBO1/NM_001145845.1/0;CC=c.1859-221T>C;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.1859-221T>C;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.1967-221T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:0:0:0:9:306:34.89:0.00:34.89:1.00:0.00:1.00:60:60.3:0:0:98:44:33:NM_002941.3(ROBO1) c.1967-221T>C,NM_002941.3(ROBO1) c.1967-221T>C:1,1:NOT_FOUND,NOT_FOUND 3 78717200 . C . . NT END=78717283;NT GT ./. 3 78717453 . C . . NT END=78717633;NT GT ./. 3 78717508 rs2255164 G A 195 nt VT=SNV;PN=C;NN=G;SST=Single;DP=51;DB;DBA=NA;PAF=G/0.6184,A/0.3816;Gene=ROBO1/NM_001145845.1/0;CC=c.1523-56C>T;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.1523-56C>T;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.1631-56C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:A:51:21:0:0:51:1705:194.79:66.40:128.39:1.00:1.00:1.00:60:43.0:0:0:84:67:36:NM_002941.3(ROBO1) c.1631-56C>T,NM_002941.3(ROBO1) c.1631-56C>T:0.38,0.38:NOT_FOUND,NOT_FOUND 3 78717716 . C . . NT END=78719245;NT GT ./. 3 78719452 . C . . NT END=78734895;NT GT ./. 3 78735068 . C . . NT END=78737797;NT GT ./. 3 78737768 . T TA 9 idl,rn VT=INS;SST=Single;DP=51;PC=0.001;Gene=ROBO1/NM_001145845.1/0;CC=c.1062+29dupT;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.1062+29dupT;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.1170+29dupT;VC=Intron;DM=ROBO1/I-set;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:T,TA,D:50:49:5:4:42,4,4:1311,163,116:0.00,9.30,7.63:0.00,8.21,5.49:0.00,1.09,2.14:0.00,0.54,0.00:0.00,0.93,0.00:0.00,0.62,0.00:60,60,60:12.3,0.0,30.5:0,1,0:0,0,0:59,63,53:85,76,97:30,20,26:-,NM_002941.3(ROBO1) c.1170+29_1170+30insT:-,NOT_FOUND:-,NOT_FOUND 3 78737923 . C . . NT END=78742497;NT GT ./. 3 78737962 rs967454 G A 164 nt VT=SNV;PN=C;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.7061,A/0.2939;Gene=ROBO1/NM_001145845.1/0;CC=c.938-40C>T;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.938-40C>T;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.1046-40C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A:44:12:0:0:44:1426:163.57:27.64:135.93:1.00:1.00:1.00:60:40.1:0:0:97:52:32:NM_002941.3(ROBO1) c.1046-40C>T,NM_002941.3(ROBO1) c.1046-40C>T:0.31,0.31:0.380158,0.380158 3 78742507 . c . . NT END=78763546;NT GT ./. 3 78742819 rs9812722 A G 16 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=13;PC=0.002;Gene=ROBO1/NM_001145845.1/0;CC=c.929-313T>C;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.929-313T>C;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.1046-4897T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:140:15.91:0.00:15.91:1.00:0.00:1.00:60:51.5:0:0:107:44:9:NM_002941.3(ROBO1) c.1046-4897T>C,NM_002941.3(ROBO1) c.1046-4897T>C:1,1:NOT_FOUND,NOT_FOUND 3 78763675 . C . . NT END=78766424;NT GT ./. 3 78766564 . C . . NT END=78766912;NT GT ./. 3 78767034 . C . . NT END=78795892;NT GT ./. 3 78796051 . C . . NT END=78987750;NT GT ./. 3 78796078 rs2304503 C A 131 nt VT=SNV;PN=A;NN=C;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.5803,A/0.4197;Gene=ROBO1/NM_001145845.1/0;CC=c.383-28G>T;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.383-28G>T;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.500-28G>T;VC=Intron;DM=ROBO1/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:A:37:9:0:0:37:1134:130.99:18.18:112.81:1.00:1.00:1.00:60:41.6:0:0:102:48:30:NM_002941.3(ROBO1) c.500-28G>T,NM_002941.3(ROBO1) c.500-28G>T:0.41,0.41:0.468409,0.468409 3 78871243 rs199828130 T TAC 7 idl,rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=2;NP=23;NP=30;NP=32;Gene=ROBO1/NM_001145845.1/0;CC=c.383-75194_383-75193insGT;VC=Intron;Gene=ROBO1/NM_133631.3/0;CC=c.383-75194_383-75193insGT;VC=Intron;Gene=ROBO1/NM_002941.3/1;CC=c.500-75194_500-75193insGT;VC=Intron;DM=ROBO1/fn3;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:1:TAC:2:3:4:0:2:129:7.05:3.28:3.78:0.51:0.89:0.89:60:22.5:2:0:33:100:13:NM_002941.3(ROBO1) c.500-75194_500-75193insGT,NM_002941.3(ROBO1) c.500-75194_500-75193insGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 78988078 . C . . NT END=79067556;NT GT ./. 3 79067965 rs1550930 C T 631 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=173;DB;DBA=NA;PAF=C/0.03614,T/0.9639;PC=0.987;Gene=ROBO1/NM_001145845.1/0;CC=c.-354G>A;VC=5UTR;Gene=ROBO1/NM_133631.3/0;CC=c.-354G>A;VC=5UTR;Gene=ROBO1/NM_002941.3/1;CC=c.173-79888G>A;VC=Intron;DM=ROBO1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:173:121:0:0:1,172:13,5510:0.00,630.64:0.00,368.96:0.00,261.68:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.0,40.0:0,0:0,0:0,65:151,84:0,34:NM_002941.3(ROBO1) c.173-79888G>A,NM_002941.3(ROBO1) c.173-79888G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 79068610 . G . . NT END=79174605;NT GT ./. 3 79156277 rs369021063 TCA T 8 sb,rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=130;PC=0.446;Gene=ROBO1/NM_002941.3/1;CC=c.172+18327_172+18328delTG;VC=Intron;DM=ROBO1/I-set;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:TCA,T:4:2:0:3:1,3:35,79:0.00,8.34:0.00,1.38:0.00,6.97:0.00,0.85:0.00,0.95:0.00,0.85:60,60:0.0,21.0:0,0:0,0:23,89:128,61:0,23:-,NM_002941.3(ROBO1) c.172+18327_172+18328delTG:-,NOT_FOUND:-,NOT_FOUND 3 79174690 . C . . NT END=79638973;NT GT ./. 3 79257837 rs59970776 ATG A 17 rn VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=5;Gene=ROBO1/NM_002941.3/1;CC=c.89-83150_89-83149delCA;VC=Intron;DM=ROBO1/I-set;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:ATG,A:6:5:0:5:1,5:35,162:0.00,17.41:0.00,10.50:0.00,6.91:0.00,0.99:0.00,1.00:0.00,1.00:60,70:41.0,2.8:0,0:0,0:60,71:76,66:0,22:-,NM_002941.3(ROBO1) c.89-83150_89-83149delCA:-,NOT_FOUND:-,NOT_FOUND 3 79355533 rs200365742 A AT 12 rn VT=INS;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.8363,AT/0.1416,ATT/0.02216;DB;DBA=NA;PAF=NA;NP=189;NP=9;PC=0.154;Gene=ROBO1/NM_002941.3/1;CC=c.89-180845dupA;VC=Intron;DM=ROBO1/I-set;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:129:A,AT:11:11:4:0:7,4:189,131:0.00,11.89:0.00,11.89:0.00,0.00:0.00,0.82:0.00,0.82:0.00,0.00:60,60:12.0,7.5:0,0:0,0:58,64:93,87:29,30:-,NM_002941.3(ROBO1) c.89-180845_89-180844insA:-,NOT_FOUND:-,NOT_FOUND 3 79579887 rs4395371 T C 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.3596,C/0.6404;Gene=ROBO1/NM_002941.3/1;CC=c.88+59087A>G;VC=Intron;DM=ROBO1/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:130:14.91:7.45:7.45:1.00:1.00:1.00:60:66.8:0:0:38:112:13:NM_002941.3(ROBO1) c.88+59087A>G,NM_002941.3(ROBO1) c.88+59087A>G:0.66,0.66:NOT_FOUND,NOT_FOUND 3 79639062 . C . . NT END=81539557;NT GT ./. 3 79749438 rs71631673 C CGTGT 7 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=49;NP=53;PC=0.022;Gene=ROBO1/NM_002941.3/1;CC=c.-51+67463_-51+67464insACAC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:C,CGTGT:3:3:3:0:1,2:34,97:0.00,6.65:0.00,6.80:0.00,-0.15:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,99.0:0,1:0,0:16,42:84,108:0,2:-,NM_002941.3(ROBO1) c.-51+67463_-51+67464insACAC:-,NOT_FOUND:-,NOT_FOUND 3 79749467 rs71630133 T G,TTGTG 9 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.478,TGTGTG/.,TT/.,TTGTG/0.522,TTT/.,TTTTG/.;NP=1;NP=13;NP=2;NP=3;NP=42;NP=55;PC=0.052 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:29:G,TTGTG:4:4:2:0:3,1:82,68:8.94,3.18:3.31,1.59:5.63,1.59:0.78,0.00:0.97,0.00:0.94,0.00:60,60:77.7,0.0:0,1:0,0:81,62:69,63:0,17:NM_002941.3(ROBO1) c.-51+67435A>C,NM_002941.3(ROBO1) c.-51+67434_-51+67435insCACA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 79874876 rs66914834 CGT C 10 sb;idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CGT/0.137,C/0.863;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=CGT/0.137,C/0.863;NP=165;PC=0.006;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:3:0:5:3:161:10.36:1.98:8.39:0.78:0.94:0.94:60:5.0:2:0:74:76:9:chr3 g.79874877_79874878delGT (intergenic),chr3 g.79874877_79874878delGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 80265933 rs9861664 A G 28 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8245,G/0.1755;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,G:14:11:0:0:6,8:155,283:0.00,27.98:0.00,21.20:0.00,6.78:0.00,1.00:0.00,1.00:0.00,0.98:60,60:32.3,43.5:0,0:0,0:24,92:126,58:16,27:-,chr3 g.80265932A>G (intergenic):-,0.2:-,NOT_FOUND 3 80266208 rs17749340 C T 13 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.3932,T/0.6068;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:C,T:7:4:0:0:3,4:90,129:0.00,12.73:0.00,9.83:0.00,2.90:0.00,0.90:0.00,0.97:0.00,0.93:60,60:0.0,35.5:0,0:0,0:38,37:111,113:12,6:-,chr3 g.80266207C>T (intergenic):-,0.6:-,NOT_FOUND 3 80768093 rs56287435 T TTGTGTG 11 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=33;NP=6;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:TTGTGTG:3:3:4:0:3:124:10.86:5.53:5.33:0.85:0.99:0.95:60:49.0:1:0:43:107:28:chr3 g.80768093_80768094insTGTGTG (intergenic),chr3 g.80768093_80768094insTGTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 80768158 rs9882887 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4902,C/0.5098 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:C,T:4:4:0:0:3,1:97,34:10.15,0.00:6.55,0.00:3.60,0.00:0.85,0.00:0.85,0.00:0.99,0.00:60,60:32.3,12.0:0,0:0,0:88,60:63,90:53,0:chr3 g.80768157T>C (intergenic),-:0.54,-:NOT_FOUND,- 3 80837356 rs56174703 T TACACACACAC 10 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.3351,TACAC/.,TACACAC/.,TACACACAC/0.3607,TACACACACACAC/.,TACACACACACACAC/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3351,TACAC/.,TACACACAC/0.3607,TACACACACAC/.;NP=3;NP=44;NP=6;NP=9;PC=0.091;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:T,TACACACACAC:4:4:5:0:1,3:34,157:0.00,9.73:0.00,5.01:0.00,4.71:0.00,0.98:0.00,0.51:0.00,0.89:60,60:0.0,10.3:0,2:0,0:85,60:66,91:0,26:-,chr3 g.80837356_80837357insACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 81208683 rs1477691 G A 10 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1805,A/0.8195;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:5:5:0:0:3,2:103,63:10.27,0.00:10.47,0.00:-0.20,0.00:0.78,0.00:0.78,0.00:0.73,0.00:60,60:38.3,4.5:0,0:0,0:32,26:118,122:5,16:chr3 g.81208682G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 81208689 rs59024380 TACAC T 10 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=21;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:TACAC,T:4:5:0:4:1,3:32,129:0.00,9.87:0.00,8.04:0.00,1.83:0.00,0.78:0.00,0.78:0.00,0.73:60,60:0.0,41.3:0,1:0,0:16,40:134,110:0,6:-,chr3 g.81208690_81208693delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 81539382 rs846 C T 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.6909,T/0.3091;Gene=GBE1/NM_000158.3/1;CC=c.*176G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:C,T:7:7:0:0:4,3:117,95:0.00,8.86:0.00,8.86:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:16.5,45.3:0,0:0,0:39,61:110,89:23,29:-,NM_000158.3(GBE1) c.*176G>A:-,0.28:-,NOT_FOUND 3 81539615 . C . . NT END=81548260;NT GT ./. 3 81548379 . G . . NT END=81584345;NT GT ./. 3 81584268 rs60133692 CT C 24 idl,rn VT=DEL;SST=Single;DP=22;DB;DBA=NA;PAF=CT/0.2819,C/0.7181;DB;DBA=NA;PAF=CT/0.2819,C/0.7181;NP=199;PC=0.079;Gene=GBE1/NM_000158.3/1;CC=c.1936+75delA;VC=Intron;DM=GBE1/Alpha-amylase_C;DM=GBE1/Alpha-amylase_C;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:19:19:1:12:10,1,8:320,31,339:0.00,2.03,23.95:0.00,-0.15,18.05:0.00,2.18,5.89:0.00,0.00,0.99:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:39.7,0.0,20.4:0,0,3:0,0,0:56,19,42:88,132,109:39,0,18:-,NM_000158.3(GBE1) c.1934+77delA:-,NOT_FOUND:-,NOT_FOUND 3 81584477 . C . . NT END=81586061;NT GT ./. 3 81586247 . C . . NT END=81627075;NT GT ./. 3 81594765 rs3083686 A ATG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.9533,G/0.04673;DB;DBA=NA;PAF=NA;NP=1;NP=110;NP=154;Gene=GBE1/NM_000158.3/1;CC=c.1619-8520_1619-8519insCA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,ATG:4:2:2:0:2,2:67,68:0.00,6.55:0.00,1.49:0.00,5.06:0.00,0.51:0.00,0.79:0.00,0.89:60,60:0.0,0.0:0,0:0,0:83,40:68,86:17,18:-,NM_000158.3(GBE1) c.1619-8520_1619-8519insCA:-,NOT_FOUND:-,NOT_FOUND 3 81626909 rs6548770 C T 9 end,nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.2772,T/0.7228;Gene=GBE1/NM_000158.3/1;CC=c.1618+167G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:97:C,T:8:8:0:0:5,3:168,99:0.00,9.03:0.00,9.03:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:19.0,33.0:0,0:0,0:34,7:116,144:24,2:-,NM_000158.3(GBE1) c.1618+167G>A:-,0.75:-,NOT_FOUND 3 81627248 . C . . NT END=81630315;NT GT ./. 3 81627277 rs397967631 G GA 10 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.9229,GA/0.07708,GAA/.;DB;DBA=NA;PAF=G/0.9229,GA/0.07708;NP=36;Gene=GBE1/NM_000158.3/1;CC=c.1447-31dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:G,GA,D:34:13:4:1:29,4,1:964,132,29:0.00,9.82,1.47:0.00,3.97,0.85:0.00,5.84,0.62:0.00,0.62,0.00:0.00,0.72,0.00:0.00,0.94,0.00:60,60,60:4.4,9.5,11.0:0,0,0:0,0,0:92,90,95:54,61,56:27,23,0:-,NM_000158.3(GBE1) c.1447-31_1447-30insT:-,NOT_FOUND:-,NOT_FOUND 3 81630427 . C . . NT END=81635242;NT GT ./. 3 81635342 . C . . NT END=81640187;NT GT ./. 3 81640316 . C . . NT END=81643058;NT GT ./. 3 81643167 rs2172397 T C 64 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.01637,C/0.9836;PC=1.000;Gene=GBE1/NM_000158.3/1;CC=c.1000A>G;ProtCh=p.I334V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:8:0:0:16:560:63.63:23.31:40.32:1.00:1.00:1.00:60:36.9:0:0:83:67:26:NM_000158.3(GBE1) c.=,NM_000158.3(GBE1) c.=:0.99,0.99:0.979269,0.979269 3 81643175 . C . . NT END=81691931;NT GT ./. 3 81661306 rs6548771 T A 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.2957,A/0.7043;Gene=GBE1/NM_000158.3/1;CC=c.993-18132A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:93:A,T:8:8:0:0:3,5:95,162:8.63,0.00:8.63,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:41.0,14.8:0,0:0,0:34,28:89,89:30,12:NM_000158.3(GBE1) c.993-18132A>T,-:0.73,-:NOT_FOUND,- 3 81661371 rs11404629 T TA 12 idl,rn VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=3;PC=0.189;Gene=GBE1/NM_000158.3/1;CC=c.993-18198_993-18197insT;VC=Intron;RN=23 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:T,TA:8:14:10:0:4,4:107,315:0.00,11.56:0.00,5.19:0.00,6.36:0.00,0.77:0.00,0.77:0.00,0.74:60,60:18.8,114.2:0,6:0,0:110,46:24,104:19,19:-,NM_000158.3(GBE1) c.993-18198_993-18197insT:-,NOT_FOUND:-,NOT_FOUND 3 81692142 . C . . NT END=81695542;NT GT ./. 3 81695634 . C . . NT END=81698006;NT GT ./. 3 81698130 rs2229519 T C 28 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=in-clinvar;PAF=T/0.6785,A/.,C/0.3215;PC=1.000;Gene=GBE1/NM_000158.3/1;CC=c.568A>G;ProtCh=p.R190G;VC=Missense;DM=GBE1/Alpha-amylase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:15:0:0:10,16:304,556:27.64,0.00:6.66,0.00:20.98,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:32.7,3.1:0,0:0,0:128,86:22,64:15,34:NM_000158.3(GBE1) c.568A>G (p.Arg190Gly),-:0.33,-:0.293218,- 3 81698143 . C . . NT END=81698946;NT GT ./. 3 81699073 . C . . NT END=81719988;NT GT ./. 3 81720105 . C . . NT END=81754594;NT GT ./. 3 81754765 . C . . NT END=81792707;NT GT ./. 3 81792592 rs3772889 T C 19 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3051,C/0.6949;Gene=GBE1/NM_000158.3/1;CC=c.143+17934A>G;VC=Intron;DM=GBE1/CBM_48 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:13:13:0:0:6,7:205,234:19.47,0.00:19.47,0.00:0.00,0.00:0.97,0.00:0.97,0.00:0.00,0.00:60,60:34.2,3.7:0,0:0,0:68,109:82,39:18,13:NM_000158.3(GBE1) c.143+17934A>G,-:0.72,-:NOT_FOUND,- 3 81792781 . G . . NT END=81810524;NT GT ./. 3 81810668 . T . . NT END=85008758;NT GT ./. 3 81810702 rs55840733 A AG 279 nt VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.003195,AG/0.9968,AGG/.;DB;DBA=NA;PAF=A/0.003195,AG/0.9968;NP=1974;PC=0.957;Gene=GBE1/NM_000158.3/1;CC=c.-35dupC;VC=5UTR;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A,AG:86:39:82:0:4,82:121,2472:0.00,279.24:0.00,97.35:0.00,181.90:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,23.2:0,0:0,0:147,81:3,66:0,33:NM_000158.3(GBE1) c.-35dupC,NM_000158.3(GBE1) c.-35dupC:0.99,0.99:0.969686,0.969686 3 81810725 rs2290081 C T 100 nt VT=SNV;PN=G;NN=G;SST=Single;DP=71;DB;DBA=NA;PAF=C/0.5791,T/0.4209;Gene=GBE1/NM_000158.3/1;CC=c.-57G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:71:31:0:0:38,33:1143,1056:0.00,100.05:0.00,22.50:0.00,77.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.8,40.9:0,0:0,0:105,76:41,75:23,32:-,NM_000158.3(GBE1) c.-58G>A:-,0.41:-,NOT_FOUND 3 82080638 rs34074857 G GACAC 6 idl,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=10;NP=10;NP=54;PC=0.022;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:G,GACAC:3:4:4:0:1,2:12,133:0.00,6.44:0.00,4.92:0.00,1.52:0.00,0.46:0.00,0.87:0.00,0.70:60,60:33.0,18.0:0,2:0,0:109,53:34,96:0,20:-,chr3 g.82080638_82080639insACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 82512616 rs80213104 T A 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8956,A/0.1044;PC=0.080 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,T:5:4:0:0:3,2:74,65:7.33,0.00:6.31,0.00:1.02,0.00:0.78,0.00:0.97,0.00:0.87,0.00:60,60:63.0,19.0:0,0:0,0:87,26:64,119:38,4:chr3 g.82512615T>A (intergenic),-:0.11,-:NOT_FOUND,- 3 82540745 . ATG A,ATGTG 7 nt VT=INS;SST=Single;DP=4;NP=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:ATG,ATGTG,A:4:3:2:1:1,2,1:33,66,34:0.00,6.65,3.15:0.00,3.17,1.51:0.00,3.48,1.64:0.00,0.51,0.00:0.00,0.89,0.00:0.00,0.79,0.00:60,60,60:19.0,41.0,0.0:0,0,0:0,0,0:65,85,71:86,65,39:0,20,0:chr3 g.82540746_82540747delTG (intergenic),chr3 g.82540746_82540747dupTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 82780498 rs9811013 T A,C 11 sb,nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=1;NP=1;NP=1;NP=14;NP=2;NP=2;NP=2;NP=2;NP=3;NP=3;NP=3;NP=345;NP=4;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:5:A,C:4:3:0:0:3,1:104,9:11.46,0.78:9.53,0.00:1.93,0.78:0.85,0.00:0.99,0.00:0.95,0.00:60,60:99.3,71.0:0,0:0,0:106,72:38,39:7,0:chr3 g.82780497T>A (intergenic),chr3 g.82780497T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 82855676 rs12636791 G A 68 nt VT=SNV;PN=C;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.8405,A/0.1595;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:26:0:0:20,12:681,355:68.46,0.00:44.04,0.00:24.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.2,35.6:0,0:0,0:44,34:104,116:17,12:chr3 g.82855675G>A (intergenic),-:0.18,-:NOT_FOUND,- 3 82855737 rs12488183 A G 46 nt VT=SNV;PN=G;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.8496,G/0.1504;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:32:0:0:25,15:832,508:0.00,46.46:0.00,25.42:0.00,21.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.8,38.6:0,0:0,0:88,61:57,90:25,23:-,chr3 g.82855736A>G (intergenic):-,0.12:-,NOT_FOUND 3 82856698 rs6782717 G A 81 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.6048,A/0.3952;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:38:20:0:0:24,13,1:802,400,13:81.32,0.00,0.24:37.17,0.00,0.33:44.15,0.00,-0.09:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:39.1,20.0,80.0:0,0,0:0,0,0:49,55,136:102,95,15:24,36,0:chr3 g.82856697G>A (intergenic),-:0.37,-:NOT_FOUND,- 3 82857229 rs9831888 A C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6054,C/0.3946;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,C:18:3:0:0:13,5:405,173:0.00,15.08:0.00,1.55:0.00,13.53:0.00,0.87:0.00,0.65:0.00,0.99:60,60:31.6,43.4:0,0:0,0:114,120:37,31:22,27:-,chr3 g.82857228A>C (intergenic):-,0.37:-,NOT_FOUND 3 82857352 rs9835763 A T 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.01917,T/0.9808;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:175:19.88:0.00:19.88:1.00:0.00:1.00:60:55.4:0:0:93:57:19:chr3 g.82857351A>T (intergenic),chr3 g.82857351A>T (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 3 82954747 rs6798970 A G 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.1951,G/0.8049;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:1:0:0:5:173:19.68:4.08:15.61:1.00:1.00:1.00:60:48.6:0:0:71:46:35:chr3 g.82954746A>G (intergenic),chr3 g.82954746A>G (intergenic):0.79,0.79:NOT_FOUND,NOT_FOUND 3 83501410 rs151153114 A C 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=71 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,C:5:5:0:0:3,2:103,70:0.00,6.49:0.00,6.83:0.00,-0.33:0.00,0.46:0.00,0.46:0.00,0.80:60,60:57.7,69.5:0,0:0,0:57,115:67,35:28,3:-,chr3 g.83501409A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 83501411 rs201542031 C T 6 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=56 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:5:0:0:3,2:104,69:0.00,6.39:0.00,6.73:0.00,-0.33:0.00,0.46:0.00,0.46:0.00,0.80:60,60:48.3,69.5:0,0:0,0:58,116:66,34:28,3:-,chr3 g.83501410C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 83554093 rs1377624 A C 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.487,C/0.513,T/. GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:0:4:103:12.18:5.26:6.91:1.00:1.00:1.00:60:67.8:0:0:105:45:21:chr3 g.83554092A>C (intergenic),chr3 g.83554092A>C (intergenic):0.51,0.51:NOT_FOUND,NOT_FOUND 3 83900650 rs146464737 G GCA 12 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=10;NP=3;NP=80;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:G,GCA:7:6:5:0:3,4:106,157:0.00,12.20:0.00,7.74:0.00,4.46:0.00,0.87:0.00,0.98:0.00,0.96:60,60:18.7,28.5:0,1:0,0:114,45:31,105:6,13:-,chr3 g.83900650_83900651insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 83916642 rs142871087 CAAA C 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;PC=0.033;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:CAAA,C:3:4:0:3:1,2:35,100:0.00,6.85:0.00,5.16:0.00,1.69:0.00,0.51:0.00,0.51:0.00,0.67:60,60:96.0,20.5:0,1:0,0:102,117:49,33:0,5:-,chr3 g.83916643_83916645delAAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 84079346 rs71104941 AGT A 7 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;PC=0.032;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:AGT,A:3:3:0:3:1,2:32,87:0.00,6.75:0.00,1.49:0.00,5.26:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,22.5:0,1:0,0:113,62:33,82:0,22:-,chr3 g.84079347_84079348delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 84134308 rs71945007 TAC T 9 idl,rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=54;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:TAC,T:6:6:0:5:3,3:52,161:0.00,9.46:0.00,4.88:0.00,4.59:0.00,0.67:0.00,0.93:0.00,0.95:60,60:20.0,4.0:1,2:0,0:72,17:28,112:8,10:-,chr3 g.84134309_84134310delAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 84607909 rs397731276 C CTG 9 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2089,CTG/0.7911,CTGTG/.;DB;DBA=NA;PAF=NA;NP=2;NP=544;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:C,CTG:4:2:3:0:1,3:30,89:0.00,9.35:0.00,7.00:0.00,2.35:0.00,0.85:0.00,0.95:0.00,0.95:60,60:70.0,43.7:0,0:0,0:115,23:36,127:0,3:-,chr3 g.84607909_84607910insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 84607930 rs9866729 C T 15 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1985,T/0.8015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:2:0:0:4:132:15.11:5.62:9.49:1.00:1.00:1.00:60:50.2:0:0:47:102:11:chr3 g.84607929C>T (intergenic),chr3 g.84607929C>T (intergenic):0.81,0.81:NOT_FOUND,NOT_FOUND 3 84618386 rs6548975 C G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=155;NP=4;NP=8;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,G:4:2:0:0:1,3:35,101:0.00,10.55:0.00,7.30:0.00,3.25:0.00,0.85:0.00,0.95:0.00,0.95:60,60:0.0,78.3:0,1:0,0:127,14:24,136:0,12:-,chr3 g.84618385C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 85008820 . G . . NT END=85561006;NT GT ./. 3 85378542 rs201315101 G GAC 9 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=154;NP=3;Gene=CADM2/NM_001167674.1/0;CC=c.61+369750_61+369751insCA;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.61+369750_61+369751insCA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:G,GAC:5:5:3:0:2,3:72,93:0.00,9.27:0.00,4.44:0.00,4.83:0.00,0.78:0.00,0.78:0.00,0.97:60,70:5.5,0.0:0,0:0,0:127,29:23,121:10,23:-,NM_001167674.1(CADM2) c.61+369723_61+369724insAC:-,NOT_FOUND:-,NOT_FOUND 3 85509883 rs57401290 G GGTGTGT 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5447,GGTGTGT/0.4553;DB;DBA=NA;PAF=G/0.5447,GGTGT/.,GGTGTGT/0.4553;NP=8;NP=93;PC=0.345;Gene=CADM2/NM_001167674.1/0;CC=c.62-341290_62-341289insGTGTGT;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.62-265765_62-265764insGTGTGT;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,GGTGTGT:4:4:3:0:1,3:35,98:0.00,10.25:0.00,6.85:0.00,3.40:0.00,0.85:0.00,0.85:0.00,0.99:60,60:0.0,4.3:0,0:0,0:137,46:14,105:0,5:-,NM_001167674.1(CADM2) c.62-341314_62-341313insGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 85526393 rs139955724 A AACAC 16 idl,rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;NP=273;Gene=CADM2/NM_001167674.1/0;CC=c.62-324775_62-324774insCACA;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.62-249250_62-249249insCACA;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,AACAC:7:8:7:0:2,5:66,221:0.00,16.10:0.00,8.38:0.00,7.73:0.00,0.96:0.00,1.00:0.00,0.99:60,60:0.0,59.4:0,2:0,0:99,65:30,82:8,9:-,NM_001167674.1(CADM2) c.62-324804_62-324803insACAC:-,NOT_FOUND:-,NOT_FOUND 3 85526423 rs9876406 T C 31 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.1282,C/0.8718;NP=407;PC=0.004;Gene=CADM2/NM_001167674.1/0;CC=c.62-324774T>C;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.62-249249T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:6:0:0:8:271:30.92:13.62:17.30:1.00:1.00:1.00:60:49.2:0:0:86:55:15:NM_001167674.1(CADM2) c.62-324774T>C,NM_001167674.1(CADM2) c.62-324774T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 85536789 rs112613086 AGAG A 13 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=AGAG/0.7067,A/0.2933;NP=221;PC=0.014;Gene=CADM2/NM_001167674.1/0;CC=c.62-314389_62-314387delGAG;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.62-238864_62-238862delGAG;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:5:4:151:13.32:3.28:10.04:0.96:0.97:0.96:70:42.5:1:0:101:36:8:NM_001167674.1(CADM2) c.62-314407_62-314405delGAG,NM_001167674.1(CADM2) c.62-314407_62-314405delGAG:0.34,0.34:NOT_FOUND,NOT_FOUND 3 85561049 . G . . NT END=85775631;NT GT ./. 3 85592750 rs6790090 T A 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.483,A/0.517;PC=0.016;Gene=CADM2/NM_001167674.1/0;CC=c.62-258447T>A;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.62-182922T>A;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.-264+31702T>A;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.-114+31702T>A;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.-291+31702T>A;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.-264+31702T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:127:14.61:3.83:10.78:1.00:1.00:1.00:60:72.0:0:0:113:24:10:NM_001167674.1(CADM2) c.62-258447T>A,NM_001167674.1(CADM2) c.62-258447T>A:0.58,0.58:NOT_FOUND,NOT_FOUND 3 85775699 . G . . NT END=85851196;NT GT ./. 3 85851347 . G . . NT END=85932440;NT GT ./. 3 85932594 . G . . NT END=85935339;NT GT ./. 3 85935478 . G . . NT END=85961522;NT GT ./. 3 85961694 . G . . NT END=85984916;NT GT ./. 3 85985008 . G . . NT END=86010618;NT GT ./. 3 86010600 rs9819556 G A 53 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.8297,A/0.1703;PC=0.007;Gene=CADM2/NM_001167674.1/0;CC=c.765-19G>A;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.792-19G>A;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.441-19G>A;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.441-19G>A;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.441-19G>A;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.441-19G>A;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.771-19G>A;VC=Intron;DM=CADM2/C2-set_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:47:41:0:0:18,29:581,991:53.11,0.00:38.76,0.00:14.35,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.8,5.6:0,0:0,0:77,51:73,93:27,28:NM_153184.3(CADM2) c.771-19G>A,-:0.14,-:0.158542,- 3 86010798 . G . . NT END=86028313;NT GT ./. 3 86028434 . G . . NT END=86114754;NT GT ./. 3 86061732 rs9874892 C T 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.8071,T/0.1929;PC=0.990;Gene=CADM2/NM_001167674.1/0;CC=c.1063+33299C>T;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.970+50935C>T;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+33299C>T;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+33299C>T;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.619+50935C>T;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.619+50935C>T;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+33299C>T;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:25:17:0:0:10,1,14:305,9,481:0.00,0.08,47.71:0.00,-0.09,24.39:0.00,0.17,23.32:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:14.2,19.0,34.4:0,0,0:0,0,0:67,3,64:83,148,78:22,0,12:-,NM_153184.3(CADM2) c.1069+33299C>T:-,0.17:-,NOT_FOUND 3 86062457 rs6771277 C T 40 nt VT=SNV;PN=C;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=C/0.8077,A/.,T/0.1923;PC=0.082;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34024C>T;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.970+51660C>T;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34024C>T;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34024C>T;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.619+51660C>T;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.619+51660C>T;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34024C>T;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:41:22:0:0:28,13:854,450:0.00,40.10:0.00,17.46:0.00,22.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.3,35.7:0,0:0,0:58,80:81,65:20,33:-,NM_153184.3(CADM2) c.1069+34024C>T:-,0.17:-,NOT_FOUND 3 86063065 rs9881057 G T 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.8061,T/0.1939;PC=0.998;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34632G>T;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.971-51690G>T;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34632G>T;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34632G>T;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.620-51690G>T;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.620-51690G>T;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34632G>T;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:19:8:0:0:9,10:277,323:0.00,31.38:0.00,13.15:0.00,18.23:0.00,1.00:0.00,0.99:0.00,1.00:60,60:14.0,45.5:0,0:0,0:76,49:56,102:23,20:-,NM_153184.3(CADM2) c.1069+34632G>T:-,0.17:-,NOT_FOUND 3 86063190 rs35215849 G A 33 nt VT=SNV;PN=T;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8061,A/0.1939;PC=1.000;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34757G>A;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.971-51565G>A;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34757G>A;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34757G>A;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.620-51565G>A;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.620-51565G>A;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34757G>A;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:161:A,G:16:8:0:0:11,5:320,171:32.90,0.00:15.25,0.00:17.64,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.9,1.2:0,0:0,0:75,70:76,80:28,9:NM_153184.3(CADM2) c.1069+34757G>A,-:0.17,-:NOT_FOUND,- 3 86063213 rs35684639 T G 34 nt VT=SNV;PN=T;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8061,G/0.1939;PC=1.000;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34780T>G;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.971-51542T>G;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34780T>G;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34780T>G;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.620-51542T>G;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.620-51542T>G;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34780T>G;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:18:11:0:0:11,7:342,226:34.20,0.00:20.44,0.00:13.76,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:96.8,4.0:0,0:0,0:79,71:72,79:26,29:NM_153184.3(CADM2) c.1069+34780T>G,-:0.17,-:NOT_FOUND,- 3 86063253 rs79960578 T C 36 nt VT=SNV;PN=C;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.8061,C/0.1939;PC=0.552;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34820T>C;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.971-51502T>C;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34820T>C;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34820T>C;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.620-51502T>C;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.620-51502T>C;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34820T>C;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:14:0:0:13,10:365,337:35.68,0.00:20.27,0.00:15.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:90.2,3.9:0,0:0,0:93,67:57,83:47,36:NM_153184.3(CADM2) c.1069+34820T>C,-:0.17,-:NOT_FOUND,- 3 86063365 rs9810010 G A 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.732,A/0.268;PC=0.648;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34932G>A;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.971-51390G>A;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34932G>A;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34932G>A;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.620-51390G>A;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.620-51390G>A;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34932G>A;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:11:0:0:13,7:384,236:38.95,0.00:14.54,0.00:24.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:83.7,1.6:0,0:0,0:89,70:62,80:41,65:NM_153184.3(CADM2) c.1069+34932G>A,-:0.24,-:NOT_FOUND,- 3 86063391 rs9847210 A G 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.6831,G/0.3169;PC=0.999;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34958A>G;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.971-51364A>G;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34958A>G;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34958A>G;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.620-51364A>G;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.620-51364A>G;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34958A>G;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:11:0:0:10,12:307,363:0.00,35.41:0.00,15.44:0.00,19.96:0.00,1.00:0.00,0.98:0.00,1.00:60,60:13.1,98.0:0,0:0,0:29,53:110,98:21,28:-,NM_153184.3(CADM2) c.1069+34958A>G:-,0.29:-,NOT_FOUND 3 86063401 rs9810027 G A 37 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.8061,A/0.1939;PC=0.994;Gene=CADM2/NM_001167674.1/0;CC=c.1063+34968G>A;VC=Intron;Gene=CADM2/NM_001167675.1/0;CC=c.971-51354G>A;VC=Intron;Gene=CADM2/NM_001256502.1/1;CC=c.739+34968G>A;VC=Intron;Gene=CADM2/NM_001256503.1/0;CC=c.739+34968G>A;VC=Intron;Gene=CADM2/NM_001256504.1/0;CC=c.620-51354G>A;VC=Intron;Gene=CADM2/NM_001256505.1/0;CC=c.620-51354G>A;VC=Intron;Gene=CADM2/NM_153184.3/0;CC=c.1069+34968G>A;VC=Intron;DM=CADM2/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:11:0:0:12,10:379,330:37.04,0.00:17.48,0.00:19.56,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:95.7,13.1:0,0:0,0:63,39:88,100:28,21:NM_153184.3(CADM2) c.1069+34968G>A,-:0.17,-:NOT_FOUND,- 3 86114881 . G . . NT END=86115814;NT GT ./. 3 86115934 . G . . NT END=87011055;NT GT ./. 3 86478604 . CACACACACACACACACACAT C 15 nt VT=DEL;SST=Single;DP=4;NP=272;PC=0.010;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:3:0:4:4:127:14.61:5.82:8.79:1.00:1.00:1.00:70:14.8:0:0:61:84:25:chr3 g.86478605_86478624delACACACACACACACACACAT (intergenic),chr3 g.86478605_86478624delACACACACACACACACACAT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 86498669 rs956056 T C 14 nt VT=SNV;PN=C;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4649,C/0.5351;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:119:13.81:0.00:13.81:1.00:0.00:1.00:60:35.2:0:0:109:41:21:chr3 g.86498668T>C (intergenic),chr3 g.86498668T>C (intergenic):0.56,0.56:NOT_FOUND,NOT_FOUND 3 87011832 . a . . NT END=87017739;NT GT ./. 3 87018099 rs79345443 T A 309 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=182;DB;DBA=NA;PAF=T/0.9962,A/0.003794;NP=61;PC=1.000;Gene=VGLL3/NM_016206.2/1;CC=c.578A>T;ProtCh=p.H193L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:182:120:0:0:96,86:3181,2820:309.22,0.00:138.31,0.00:170.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,11.3:0,0:0,0:64,75:85,73:34,33:NM_016206.2(VGLL3) c.578A>T (p.His193Leu),-:0.0046,-:0.008125,- 3 87018274 . C . . NT END=87027675;NT GT ./. 3 87027953 . C . . NT END=87039449;NT GT ./. 3 87039530 . G . . NT END=87039767;NT GT ./. 3 87040049 . C . . NT END=87276672;NT GT ./. 3 87040392 rs2575772 A G 8 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3433,G/0.6567 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,G:4:0:0:0:1,3:33,79:0.00,8.33:0.00,0.00:0.00,8.33:0.00,0.85:0.00,0.00:0.00,0.85:60,60:13.0,55.0:0,0:0,0:118,136:33,15:0,6:-,NM_016206.2(VGLL3) c.-364-u135T>C:-,0.67:-,NOT_FOUND 3 87100160 rs4858947 T C 34 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.05451,C/0.9455;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:9:0:0:9:300:34.29:34.29:0.00:1.00:1.00:0.00:60:34.1:0:0:46:103:27:chr3 g.87100159T>C (intergenic),chr3 g.87100159T>C (intergenic):0.95,0.95:NOT_FOUND,NOT_FOUND 3 87100309 rs2575753 T C 115 nt VT=SNV;PN=C;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.3285,C/0.6715 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:85:C:32:25:0:0:32:994:114.57:77.74:36.83:1.00:1.00:1.00:60:39.8:0:0:52:98:23:chr3 g.87100308T>C (intergenic),chr3 g.87100308T>C (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 3 87100434 rs7619398 G A 153 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.3285,A/0.6715;PC=0.463 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:19:0:0:42:1330:152.93:56.20:96.72:1.00:1.00:1.00:60:48.9:0:0:64:84:40:chr3 g.87100433G>A (intergenic),chr3 g.87100433G>A (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 3 87100893 rs2256481 G A 47 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2961,A/0.7039;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:A:15:7:0:0:15:398:46.79:14.75:32.04:1.00:1.00:1.00:60:53.9:0:0:102:48:40:chr3 g.87100892G>A (intergenic),chr3 g.87100892G>A (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 3 87100988 rs2256479 T C 38 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3285,C/0.6715;PC=0.091 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:6:0:0:10:330:37.77:20.67:17.10:1.00:1.00:1.00:60:54.5:0:0:53:92:48:chr3 g.87100987T>C (intergenic),chr3 g.87100987T>C (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 3 87101153 rs2256475 C T 48 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.3285,T/0.6715;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:T:14:7:0:0:14:410:47.63:22.01:25.62:1.00:1.00:1.00:60:39.3:0:0:64:87:41:chr3 g.87101152C>T (intergenic),chr3 g.87101152C>T (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 3 87101274 rs2256473 T C 41 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3281,C/0.6719;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:18:C,G:13:8:0:0:12,1:362,10:41.41,0.48:26.09,0.48:15.32,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:72.2,43.0:0,0:0,0:77,49:72,102:47,0:chr3 g.87101273T>C (intergenic),chr3 g.87101273T>C (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 3 87101320 rs2256468 G A 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2943,A/0.7057,T/.;PC=0.999 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:A:13:10:0:0:13:431:49.30:33.84:15.46:1.00:1.00:1.00:60:58.2:0:0:68:83:32:chr3 g.87101319G>A (intergenic),chr3 g.87101319G>A (intergenic):0.72,0.72:NOT_FOUND,NOT_FOUND 3 87101747 rs2660745 G A 73 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.2927,A/0.7073;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A:20:16:0:0:20:637:73.24:56.39:16.85:1.00:1.00:1.00:60:55.2:0:0:41:99:33:chr3 g.87101746G>A (intergenic),chr3 g.87101746G>A (intergenic):0.73,0.73:NOT_FOUND,NOT_FOUND 3 87101877 rs2575764 C A 183 nt VT=SNV;PN=C;NN=T;SST=Single;DP=49;DB;DBA=NA;PAF=C/0.3295,A/0.6705;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:136:A:49:43:0:0:49:1601:183.33:112.22:71.11:1.00:1.00:1.00:60:41.6:0:0:63:83:36:chr3 g.87101876C>A (intergenic),chr3 g.87101876C>A (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 3 87210562 rs58827292 G C 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5849,C/0.4151;DB;DBA=NA;PAF=NA;NP=1;NP=4;NP=95;PC=0.199 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:65:C,G:5:3:0:0:2,3:71,64:6.60,0.00:1.41,0.00:5.20,0.00:0.46,0.00:0.80,0.00:0.80,0.00:60,60:66.5,5.7:0,0:0,0:17,88:125,63:11,19:chr3 g.87210561G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 87276707 . G . . NT END=87289848;NT GT ./. 3 87289941 . G . . NT END=87294863;NT GT ./. 3 87295049 rs11540913 T C 154 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=in-clinvar;PAF=T/0.1843,C/0.8157;PC=0.068;Gene=CHMP2B/NM_001244644.1/0;CC=c.189T>C;ProtCh=p.T63=;VC=Silent;Gene=CHMP2B/NM_014043.3/1;CC=c.312T>C;ProtCh=p.T104=;VC=Silent;DM=CHMP2B/Snf7;DM=CHMP2B/Snf7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A,C:44:17:0:0:1,43:12,1344:0.30,154.37:0.00,49.14:0.30,105.23:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.0,34.1:0,0:0,0:2,101:149,47:0,28:NM_014043.3(CHMP2B) c.312T>C (p.(=)),NM_014043.3(CHMP2B) c.312T>C (p.(=)):0.84,0.84:0.820314,0.820314 3 87295059 . G . . NT END=87299024;NT GT ./. 3 87299128 . G . . NT END=87302553;NT GT ./. 3 87302661 . G . . NT END=87302861;NT GT ./. 3 87302973 . T . . NT END=87309043;NT GT ./. 3 87303064 rs368297778 CA C 8 rn VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=17;PC=0.003;Gene=CHMP2B/NM_001244644.1/0;CC=c.*106delA;VC=3UTR;Gene=CHMP2B/NM_014043.3/1;CC=c.*106delA;VC=3UTR;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:86:A,CA,T,C:10:0:0:3:1,5,1,3:8,114,7,91:0.17,0.00,0.10,8.19:0.00,0.00,0.00,0.00:0.17,0.00,0.10,8.19:0.00,0.00,0.00,0.62:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.62:60,60,60,60:29.0,32.0,83.0,31.3:0,0,0,0:0,0,0,0:58,104,43,48:93,40,108,102:0,11,0,34:-,NM_014043.3(CHMP2B) c.*93A[13]:-,NOT_FOUND:-,NOT_FOUND 3 87308904 rs575761620 T A 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.7278,A/0.2508;DB;DBA=NA;PAF=T/0.7278,TA/0.02137;DB;DBA=NA;PAF=T/0.7278,TA/0.02137;PC=0.001;Gene=POU1F1/NM_000306.3/0;CC=c.*140A>T;VC=3UTR;Gene=POU1F1/NM_001122757.2/1;CC=c.*140A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:A,T:9:9:0:0:4,5:130,155:12.22,0.00:12.22,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:32.5,12.4:0,0:0,0:28,71:122,80:14,4:NM_001122757.1(POU1F1) c.*140A>T,-:0.27,-:NOT_FOUND,- 3 87309255 . C . . NT END=87310422;NT GT ./. 3 87310484 . C . . NT END=87311220;NT GT ./. 3 87311386 . C . . NT END=87313437;NT GT ./. 3 87313353 rs4988462 C T 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7632,T/0.2368;Gene=POU1F1/NM_000306.3/0;CC=c.439+85G>A;VC=Intron;Gene=POU1F1/NM_001122757.2/1;CC=c.517+85G>A;VC=Intron;DM=POU1F1/Pou GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:136:C,T:9:9:0:0:5,4:146,133:0.00,12.54:0.00,12.54:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:17.6,47.0:0,0:0,0:62,68:88,82:12,37:-,NM_001122757.1(POU1F1) c.517+85G>A:-,0.26:-,NOT_FOUND 3 87313663 . C . . NT END=87322496;NT GT ./. 3 87322647 . C . . NT END=87325470;NT GT ./. 3 87325613 . T . . NT END=88039899;NT GT ./. 3 87372469 rs1389688 C T 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.1899,T/0.8101 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:154:17.77:17.77:0.00:1.00:1.00:0.00:60:76.4:0:0:12:138:6:chr3 g.87372468C>T (intergenic),chr3 g.87372468C>T (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 3 87372560 rs1826635 A G 41 sb,nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.1895,G/0.8105 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:11:0:0:11:354:40.65:38.66:1.99:1.00:1.00:1.00:60:41.6:0:0:27:124:19:chr3 g.87372559A>G (intergenic),chr3 g.87372559A>G (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 3 87372741 rs6779264 G A 87 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.1895,A/0.8105;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:A:23:13:0:0:23:761:87.04:34.64:52.40:1.00:1.00:1.00:60:63.5:0:0:96:49:26:chr3 g.87372740G>A (intergenic),chr3 g.87372740G>A (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 3 87372779 rs6788946 C T 57 nt VT=SNV;PN=A;NN=G;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.1899,T/0.8101;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G,T:18:8:0:0:1,17:11,492:0.46,56.81:0.00,17.56:0.46,39.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:47.0,68.7:0,0:0,0:83,116:68,35:0,30:chr3 g.87372778C>T (intergenic),chr3 g.87372778C>T (intergenic):0.85,0.85:NOT_FOUND,NOT_FOUND 3 88041001 . T . . NT END=88104622;NT GT ./. 3 88105127 . T . . NT END=88108469;NT GT ./. 3 88105264 rs3732776 A C 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.2167,C/0.7833;PC=0.001;Gene=CGGBP1/NM_001008390.1/1;CC=c.-23-115T>G;VC=Intron;Gene=CGGBP1/NM_003663.3/0;CC=c.-23-115T>G;VC=Intron;Gene=CGGBP1/NM_001195308.1/0;CC=c.-23-115T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:0:0:0:15:501:57.25:0.00:57.25:1.00:0.00:1.00:60:37.5:0:0:109:42:39:NM_001008390.1(CGGBP1) c.-23-115T>G,NM_001008390.1(CGGBP1) c.-23-115T>G:0.79,0.79:NOT_FOUND,NOT_FOUND 3 88108656 . G . . NT END=88135406;NT GT ./. 3 88135553 . G . . NT END=88162264;NT GT ./. 3 88162347 . G . . NT END=88175283;NT GT ./. 3 88175420 . G . . NT END=88177958;NT GT ./. 3 88175599 rs4858933 T C 39 nt VT=SNV;PN=C;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.08806,C/0.9119;Gene=CGGBP1/NM_001195308.1/0;CC=c.-229+14521A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:A,C:14:0:0:0:1,13:8,333:0.31,39.01:0.00,0.00:0.31,39.01:0.00,1.00:0.00,0.00:0.00,1.00:60,60:119.0,49.5:0,0:0,0:88,107:32,44:0,43:NM_001195308.1(CGGBP1) c.-229+14521A>G,NM_001195308.1(CGGBP1) c.-229+14521A>G:0.93,0.93:NOT_FOUND,NOT_FOUND 3 88178162 . G . . NT END=88178836;NT GT ./. 3 88178977 . G . . NT END=88184210;NT GT ./. 3 88184353 . G . . NT END=88187854;NT GT ./. 3 88187600 rs397990479 T TG 14 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2171,TG/0.7829,TGG/.;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.2171,TG/0.7829;NP=6;PC=0.008;Gene=CGGBP1/NM_001195308.1/0;CC=c.-229+2519dupC;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:TG:4:4:4:0:4:119:13.81:13.81:0.00:1.00:1.00:0.00:60:5.5:0:0:21:130:13:NM_018293.2(ZNF654) c.-199-u662_-199-u661insG,NM_018293.2(ZNF654) c.-199-u662_-199-u661insG:0.79,0.79:NOT_FOUND,NOT_FOUND 3 88188420 rs9813894 G A 415 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=115;DB;DBA=NA;PAF=G/0.2167,A/0.7833;PC=0.914;Gene=CGGBP1/NM_001195308.1/0;CC=c.-229+1700C>T;VC=Intron;Gene=ZNF654/NM_018293.2/1;CC=c.-41G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:115:70:0:0:114,1:3612,13:414.95,0.18:209.66,0.00:205.29,0.18:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.5,13.0:0,0:0,0:67,93:82,58:38,0:NM_018293.2(ZNF654) c.-41G>A,NM_018293.2(ZNF654) c.-41G>A:0.79,0.79:0.785429,0.785429 3 88189341 rs7653652 T C 411 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=109;DB;DBA=NA;PAF=T/0.2169,C/0.7831;PC=0.001;Gene=CGGBP1/NM_001195308.1/0;CC=c.-229+779A>G;VC=Intron;Gene=ZNF654/NM_018293.2/1;CC=c.881T>C;ProtCh=p.I294T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:109:68:0:0:1,108:33,3602:1.74,411.11:0.00,203.57:1.74,207.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:33.0,39.7:0,0:0,0:53,73:98,76:0,39:NM_018293.2(ZNF654) c.881T>C (p.Ile294Thr),NM_018293.2(ZNF654) c.881T>C (p.Ile294Thr):0.79,0.79:0.786751,0.786751 3 88190199 . G . . NT END=88190794;NT GT ./. 3 88190655 rs545929609 A G 21 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=5;PC=0.016;Gene=CGGBP1/NM_001195308.1/0;CC=c.-337-427T>C;VC=Intron;Gene=ZNF654/NM_018293.2/1;CC=c.1739-140A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:14:13:0:0:7,7:233,215:0.00,20.62:0.00,16.95:0.00,3.68:0.00,0.99:0.00,1.00:0.00,0.67:60,60:18.9,36.9:0,0:0,0:50,98:101,52:38,29:-,NM_018293.2(ZNF654) c.1739-140A>G:-,NOT_FOUND:-,NOT_FOUND 3 88190768 rs7432826 C A 87 nt VT=SNV;PN=G;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.03954,A/0.9605;PC=0.026;Gene=CGGBP1/NM_001195308.1/0;CC=c.-337-540G>T;VC=Intron;Gene=ZNF654/NM_018293.2/1;CC=c.1739-27C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:18:0:0:24:760:87.30:52.19:35.11:1.00:1.00:1.00:60:68.5:0:0:59:81:24:NM_018293.2(ZNF654) c.1739-27C>A,NM_018293.2(ZNF654) c.1739-27C>A:0.95,0.95:0.919264,0.919264 3 88190803 . T . . NT END=88199202;NT GT ./. 3 88190809 rs7432838 C T 113 nt VT=SNV;PN=A;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.1184,T/0.8816;PC=1.000;Gene=CGGBP1/NM_001195308.1/0;CC=c.-337-581G>A;VC=Intron;Gene=ZNF654/NM_018293.2/1;CC=c.*7C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:T:29:17:0:0:29:987:112.53:48.16:64.37:1.00:1.00:1.00:60:62.4:0:0:86:65:29:NM_018293.2(ZNF654) c.*7C>T,NM_018293.2(ZNF654) c.*7C>T:0.87,0.87:0.848644,0.848644 3 88199179 rs6551277 T C 273 nt VT=SNV;PN=T;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=T/0.2087,C/0.7913;PC=0.004;Gene=C3orf38/NM_173824.3/1;CC=c.-24T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:58:0:0:74:2378:272.89:175.43:97.45:1.00:1.00:1.00:60:49.0:2:0:67:78:31:NM_173824.3(C3orf38) c.=,NM_173824.3(C3orf38) c.=:0.8,0.8:0.783177,0.783177 3 88199185 rs200620200 T TC 213 rn VT=INS;SST=Single;DP=73;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2938;NP=5;Gene=C3orf38/NM_173824.3/1;CC=c.-11dupC;VC=5UTR;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:102:C,T,TC:73:57:63:0:1,9,63:12,253,1947:0.15,0.00,213.00:0.18,0.00,133.92:-0.03,0.00,79.08:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:92.0,47.0,46.8:1,3,0:0,0,0:63,79,62:80,72,83:0,29,29:-,NM_173824.3(C3orf38) c.=:-,0.75:-,0.726358 3 88199298 rs6551278 T C 345 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=96;DB;DBA=NA;PAF=T/0.2167,C/0.7833;PC=0.655;Gene=C3orf38/NM_173824.3/1;CC=c.96T>C;ProtCh=p.T32=;VC=Silent;DM=C3orf38/DUF4518 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:96:61:0:0:96:2997:345.45:164.38:181.07:1.00:1.00:1.00:60:40.9:0:0:62:76:36:NM_173824.3(C3orf38) c.=,NM_173824.3(C3orf38) c.=:0.79,0.79:0.773874,0.773874 3 88199337 . T . . NT END=88202379;NT GT ./. 3 88202622 . G . . NT END=88205170;NT GT ./. 3 88205786 . G . . NT END=88514507;NT GT ./. 3 88366302 rs2344557 T C 77 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=NA;NP=3182;PC=0.586 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:C:20:16:0:0:20:677:77.24:52.89:24.35:1.00:1.00:1.00:60:71.5:0:0:53:97:12:chr3 g.88366301T>C (intergenic),chr3 g.88366301T>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 3 88366351 rs2125223 T G 76 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1775,G/0.8225;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:G:21:17:0:0:21:663:76.25:46.31:29.94:1.00:1.00:1.00:60:71.4:0:0:90:61:18:chr3 g.88366350T>G (intergenic),chr3 g.88366350T>G (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 3 88366420 rs1457999 G A 36 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.7145,A/0.2855;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:11:0:0:12,9:365,285:35.97,0.00:16.63,0.00:19.34,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:61.8,25.4:0,0:0,0:24,34:126,117:18,25:chr3 g.88366419G>A (intergenic),-:0.29,-:NOT_FOUND,- 3 88368227 rs57261905 C A 15 nt VT=SNV;PN=C;NN=C;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.7149,A/0.2851 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,C:17:10:0:0:7,10:170,330:15.29,0.00:7.57,0.00:7.72,0.00:0.98,0.00:0.99,0.00:0.98,0.00:60,60:75.1,7.0:0,0:0,0:90,52:61,98:37,30:chr3 g.88368226C>A (intergenic),-:0.29,-:NOT_FOUND,- 3 88514766 rs11713321 T A 343 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=T/0.4052,A/0.5948 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:94:65:0:0:94:2982:342.74:188.70:154.04:1.00:1.00:1.00:60:37.6:0:0:64:76:42:chr3 g.88514765T>A (intergenic),chr3 g.88514765T>A (intergenic):0.65,0.65:NOT_FOUND,NOT_FOUND 3 88515800 rs6551323 G T 174 nt VT=SNV;PN=T;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.275,T/0.725;PC=0.974 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:T:46:19:0:0:46:1521:174.00:48.80:125.20:1.00:1.00:1.00:60:61.7:0:0:102:47:30:chr3 g.88515799G>T (intergenic),chr3 g.88515799G>T (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 3 88515801 . G . . NT END=88516086;NT GT ./. 3 88515827 rs6551324 A G 135 nt VT=SNV;PN=C;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.2746,G/0.7254;PC=0.826 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:G:38:15:0:0:38:1174:135.34:38.14:97.20:1.00:1.00:1.00:60:69.3:0:0:91:55:37:chr3 g.88515826A>G (intergenic),chr3 g.88515826A>G (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 3 88516120 . A . . NT END=89156898;NT GT ./. 3 88862762 rs150247359 A G 10 sb;end,nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=17;NP=17;NP=2;NP=3;NP=36;NP=4;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:A,G,I:7:7:2:0:3,3,1:91,103,68:0.00,9.84,2.80:0.00,8.27,1.37:0.00,1.57,1.43:0.00,0.67,0.00:0.00,0.95,0.00:0.00,0.90,0.00:60,60,60:11.7,42.3,0.0:0,0,1:0,0,0:118,6,88:33,140,63:1,2,14:-,chr3 g.88862761A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 88901881 rs34656322 A ATG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5737,ATG/0.3522,ATGTG/0.07408;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.5737,ATG/0.3522,ATGTG/0.07408,ATGTGTG/.;NP=2;NP=313;NP=8;PC=0.013;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,ATG:3:3:3:0:1,2:34,101:0.00,6.75:0.00,1.44:0.00,5.31:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,16.5:0,1:0,0:124,56:27,94:0,33:-,chr3 g.88901881_88901882insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 88901967 rs61584427 A ATG 14 idl,rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=115;NP=2;NP=3;NP=3;NP=80;PC=0.407;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,ATG:5:2:6:0:1,4:32,197:0.00,13.57:0.00,1.63:0.00,11.93:0.00,0.90:0.00,0.85:0.00,0.90:60,60:11.0,3.2:0,2:0,0:144,53:6,76:0,20:-,chr3 g.88901967_88901968insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 88993462 rs72255928 TACAC T,TACACACAC 9 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=TACAC/0.5208,T/0.4792;DB;DBA=NA;PAF=TACAC/0.5208,T/0.4792;NP=124 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:63:TACACACAC,T:5:4:4:2:3,2:122,65:9.33,6.50:3.18,1.65:6.15,4.85:0.98,0.00:0.51,0.00:0.96,0.00:60,60:0.0,0.0:1,0:0,0:55,71:95,78:29,22:chr3 g.88993463_88993466delACAC (intergenic),chr3 g.88993463AC[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 88999311 rs1826842 T C 56 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.008187,C/0.9918;NP=3450;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:10:0:0:15:484:55.55:33.10:22.44:1.00:1.00:1.00:60:56.7:0:0:98:41:36:chr3 g.88999310T>C (intergenic),chr3 g.88999310T>C (intergenic):1,1:NOT_FOUND,NOT_FOUND 3 88999337 rs2016907 T G 43 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.003395,G/0.9966;NP=3457;PC=0.933 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:G:11:6:0:0:11:377:42.95:15.26:27.69:1.00:1.00:1.00:60:60.0:0:0:86:65:35:chr3 g.88999336T>G (intergenic),chr3 g.88999336T>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 3 88999499 rs17026486 T C 14 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.8848,C/0.1152;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:C,T:6:2:0:0:4,2:138,64:14.05,0.00:3.80,0.00:10.25,0.00:0.93,0.00:0.91,0.00:0.93,0.00:60,60:96.2,0.0:0,0:0,0:109,143:41,7:32,5:chr3 g.88999498T>C (intergenic),-:0.14,-:NOT_FOUND,- 3 88999950 rs7640057 T G 58 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.3498,G/0.6502;PC=0.990 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:G:16:12:0:0:16:499:57.52:41.78:15.74:1.00:1.00:1.00:60:51.6:0:0:63:87:45:chr3 g.88999949T>G (intergenic),chr3 g.88999949T>G (intergenic):0.66,0.66:NOT_FOUND,NOT_FOUND 3 88999967 rs74999183 G A 25 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8812,A/0.1188;PC=0.959 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:16:13:0:0:8,8:257,270:24.70,0.00:18.70,0.00:6.00,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:65.0,34.1:0,0:0,0:104,46:41,103:31,21:chr3 g.88999966G>A (intergenic),-:0.14,-:NOT_FOUND,- 3 89081611 rs59428311 C CTG 10 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6819,CTG/0.3181;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=12;NP=216;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:C,CTG:6:5:3:0:3,3:77,101:0.00,9.73:0.00,4.72:0.00,5.02:0.00,0.98:0.00,0.96:0.00,0.51:60,60:75.7,7.0:0,0:0,0:113,14:35,132:21,0:-,chr3 g.89081611_89081612insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 89156987 . G . . NT END=89176358;NT GT ./. 3 89176424 . G . . NT END=89259009;NT GT ./. 3 89209696 rs199506575 TTTTG T 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=82;PC=0.012;Gene=EPHA3/NM_182644.2/0;CC=c.153+33275_153+33278delTTGT;VC=Intron;Gene=EPHA3/NM_005233.5/1;CC=c.153+33275_153+33278delTTGT;VC=Intron;DM=EPHA3/Ephrin_lbd;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:4:0:7:6:189:21.76:9.29:12.47:1.00:1.00:1.00:70:48.7:0:0:41:98:19:NM_005233.5(EPHA3) c.153+33274_153+33277delTTTG,NM_005233.5(EPHA3) c.153+33274_153+33277delTTTG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 89209739 rs7652752 T G 22 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.001;Gene=EPHA3/NM_182644.2/0;CC=c.153+33316T>G;VC=Intron;Gene=EPHA3/NM_005233.5/1;CC=c.153+33316T>G;VC=Intron;DM=EPHA3/Ephrin_lbd GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:190:21.86:8.94:12.92:1.00:1.00:1.00:60:45.8:0:0:68:59:13:NM_005233.5(EPHA3) c.153+33316T>G,NM_005233.5(EPHA3) c.153+33316T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 89259671 . G . . NT END=89390065;NT GT ./. 3 89390222 . G . . NT END=89390904;NT GT ./. 3 89390875 rs116667804 C T 50 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.9886,T/0.01138;NP=144;Gene=EPHA3/NM_182644.2/0;CC=c.971-30C>T;VC=Intron;Gene=EPHA3/NM_005233.5/1;CC=c.971-30C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:29:0:0:13,17:409,509:0.00,50.10:0.00,43.89:0.00,6.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,37.9:0,0:0,0:58,40:93,111:32,21:-,NM_005233.5(EPHA3) c.971-30C>T:-,0.01:-,0.018308 3 89391241 . G . . NT END=89444986;NT GT ./. 3 89445112 . G . . NT END=89448467;NT GT ./. 3 89448277 rs375028505 TA T 8 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=7;PC=0.028;Gene=EPHA3/NM_182644.2/0;CC=c.1432-177delA;VC=Intron;Gene=EPHA3/NM_005233.5/1;CC=c.1432-177delA;VC=Intron;DM=EPHA3/fn3;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:85:TA,T:12:13:0:4:9,3:270,125:0.00,8.30:0.00,8.30:0.00,0.00:0.00,0.58:0.00,0.58:0.00,0.00:60,60:36.8,27.7:0,1:0,0:28,44:122,96:20,8:-,NM_005233.5(EPHA3) c.1432-190delA:-,NOT_FOUND:-,NOT_FOUND 3 89448876 rs368368368 G GT 49 idl,rn VT=INS;SST=Single;DP=124;DB;DBA=NA;PAF=NA;NP=28;NP=3;Gene=EPHA3/NM_182644.2/0;CC=c.*232dupT;VC=3UTR;Gene=EPHA3/NM_005233.5/1;CC=c.1594+258dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T,GT,D:120:80:22:4:1,95,2,19,3:8,2889,35,720,124:-0.28,0.00,0.64,48.96,4.70:-0.19,0.00,-0.19,25.49,2.62:-0.09,0.00,0.83,23.47,2.07:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:60,60,60,60,60:167.0,19.2,27.0,11.4,46.0:0,0,0,3,1:0,0,0,0,0:89,79,74,97,36:51,69,76,53,105:0,37,73,30,20:-,NM_005233.5(EPHA3) c.1594+246_1594+247insT:-,NOT_FOUND:-,NOT_FOUND 3 89449263 . a . . NT END=89456418;NT GT ./. 3 89449342 rs72101620 CT C 18 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;NP=2;PC=0.012;Gene=EPHA3/NM_182644.2/0;CC=c.*705delT;VC=3UTR;Gene=EPHA3/NM_005233.5/1;CC=c.1594+731delT;VC=Intron;RN=19 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:CT,C:12:0:0:8:6,6:149,225:0.00,18.45:0.00,0.00:0.00,18.45:0.00,0.97:0.00,0.00:0.00,0.97:60,60:11.7,30.8:0,1:0,0:138,107:12,44:8,7:-,NM_005233.5(EPHA3) c.1594+713delT:-,NOT_FOUND:-,NOT_FOUND 3 89456237 rs142082314 G T 12 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.9906,T/0.009385;Gene=EPHA3/NM_005233.5/1;CC=c.1595-182G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:G,T:6:6:0:0:2,4:57,122:0.00,12.45:0.00,12.45:0.00,0.00:0.00,0.93:0.00,0.93:0.00,0.00:60,60:0.0,80.2:0,0:0,0:51,40:98,109:16,34:-,NM_005233.5(EPHA3) c.1595-182G>T:-,0.01:-,NOT_FOUND 3 89456522 . G . . NT END=89457216;NT GT ./. 3 89457282 . G . . NT END=89462290;NT GT ./. 3 89462417 . G . . NT END=89468354;NT GT ./. 3 89468541 . G . . NT END=89478255;NT GT ./. 3 89478318 . G . . NT END=89480299;NT GT ./. 3 89480510 . G . . NT END=89498374;NT GT ./. 3 89498525 . G . . NT END=89499326;NT GT ./. 3 89498619 rs1028011 A G 65 nt VT=SNV;PN=T;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.1102,G/0.8898;PC=1.000;Gene=EPHA3/NM_005233.5/1;CC=c.2496+95A>G;VC=Intron;DM=EPHA3/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:43:6:0:0:22,21:702,683:0.00,65.35:0.00,6.25:0.00,59.10:0.00,1.00:0.00,0.98:0.00,1.00:60,60:8.0,44.2:0,0:0,0:94,100:56,50:19,40:-,NM_005233.5(EPHA3) c.2496+95A>G:-,0.91:-,NOT_FOUND 3 89499521 . G . . NT END=89521613;NT GT ./. 3 89521770 . G . . NT END=89528546;NT GT ./. 3 89528653 . A . . NT END=93593088;NT GT ./. 3 90184291 rs71621563 T TCA 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=11;NP=2;NP=35;NP=54;PC=0.124;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:47:T,TCA:4:4:2:0:2,2:47,67:0.00,6.46:0.00,4.82:0.00,1.64:0.00,0.51:0.00,0.51:0.00,0.79:60,70:45.5,76.0:0,0:0,0:59,22:90,106:43,12:-,chr3 g.90184291_90184292insCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 90264768 rs6803112 A G 94 nt VT=SNV;PN=C;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.09685,G/0.9032;PC=0.108 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:67:G:26:22:0:0:26:812:93.51:62.85:30.66:1.00:1.00:1.00:60:34.7:0:0:61:85:22:chr3 g.90264767A>G (intergenic),chr3 g.90264767A>G (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 3 90274805 rs7429659 G A 34 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.1,A/0.9;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:A:9:3:0:0:9:299:34.19:7.80:26.39:1.00:1.00:1.00:60:34.4:0:0:103:48:34:chr3 g.90274804G>A (intergenic),chr3 g.90274804G>A (intergenic):0.9,0.9:NOT_FOUND,NOT_FOUND 3 90276511 rs9815264 G A 20 nt VT=SNV;PN=G;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=G/0.4105,A/0.5895;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:20:15:0:0:7,13:221,412:19.82,0.00:11.92,0.00:7.90,0.00:0.97,0.00:0.99,0.00:0.93,0.00:60,60:44.9,1.2:0,0:0,0:23,46:116,104:7,34:chr3 g.90276510G>A (intergenic),-:0.58,-:NOT_FOUND,- 3 90276661 rs9815542 G A 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.4105,A/0.5895;PC=0.877 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:23:11:0:0:8,1,14:264,10,390:23.97,0.06,0.00:9.24,-0.10,0.00:14.73,0.16,0.00:0.99,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:60,60,60:34.2,143.0,2.9:0,0,0:0,0,0:110,49,98:40,77,41:30,0,32:chr3 g.90276660G>A (intergenic),-:0.58,-:NOT_FOUND,- 3 90283951 rs7429932 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.4093,G/0.5907 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:111:A,G:12:1:0:0:5,7:110,232:0.00,23.07:0.00,1.92:0.00,21.15:0.00,0.99:0.00,0.72:0.00,0.99:60,60:49.8,36.3:0,0:0,0:77,133:57,17:40,5:-,chr3 g.90283950A>G (intergenic):-,0.58:-,NOT_FOUND 3 90306556 rs34271374 GC G 14 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=GC/0.8438,G/0.1562;NP=1328;PC=0.999;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:134:GC,G:23:5:0:5:18,5:619,166:0.00,13.76:0.00,-0.37:0.00,14.13:0.00,0.84:0.00,0.69:0.00,0.98:60,60:7.7,3.8:0,0:0,0:103,97:47,54:36,15:-,chr3 g.90306557delC (intergenic):-,0.19:-,NOT_FOUND 3 93593250 . C . . NT END=93595809;NT GT ./. 3 93596036 . C . . NT END=93598006;NT GT ./. 3 93598159 . C . . NT END=93603571;NT GT ./. 3 93603741 . C . . NT END=93605179;NT GT ./. 3 93605126 rs8178649 A G 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=A/0.884,G/0.116;Gene=PROS1/NM_001314077/0;CC=c.1419+54T>C;VC=Intron;Gene=PROS1/NM_000313.3/1;CC=c.1323+54T>C;VC=Intron;DM=PROS1/Laminin_G_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:41:40:0:0:21,20:631,697:0.00,66.95:0.00,58.39:0.00,8.55:0.00,1.00:0.00,1.00:0.00,0.99:60,60:4.7,41.1:0,0:0,0:18,54:119,96:14,28:-,NM_000313.3(PROS1) c.1323+54T>C:-,0.14:-,NOT_FOUND 3 93605348 . C . . NT END=93611776;NT GT ./. 3 93611967 . C . . NT END=93615419;NT GT ./. 3 93615536 . C . . NT END=93617291;NT GT ./. 3 93617414 . C . . NT END=93619647;NT GT ./. 3 93619774 . C . . NT END=93624627;NT GT ./. 3 93624760 . C . . NT END=93624864;NT GT ./. 3 93624988 . C . . NT END=93629462;NT GT ./. 3 93629550 . C . . NT END=93643083;NT GT ./. 3 93643109 . C . . NT END=93646093;NT GT ./. 3 93645981 rs61519199 A C 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.9746,C/0.02536;PC=0.001;Gene=PROS1/NM_001314077/0;CC=c.330+113T>G;VC=Intron;Gene=PROS1/NM_000313.3/1;CC=c.234+113T>G;VC=Intron;DM=PROS1/Gla GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:27:26:0:0:15,12:464,367:0.00,34.34:0.00,30.97:0.00,3.37:0.00,1.00:0.00,1.00:0.00,0.84:60,60:15.9,37.6:0,0:0,0:45,69:105,81:39,35:-,NM_000313.3(PROS1) c.234+113T>G:-,0.02:-,NOT_FOUND 3 93646252 . C . . NT END=93647545;NT GT ./. 3 93647642 . C . . NT END=93692517;NT GT ./. 3 93692594 . T . . NT END=93699267;NT GT ./. 3 93692641 . G T 86 nt VT=SNV;PN=G;NN=G;SST=Single;DP=62;Gene=PROS1/NM_001314077/0;CC=c.-48C>A;VC=5UTR;Gene=PROS1/NM_000313.3/1;CC=c.-48C>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:62:29:0:0:33,29:970,911:0.00,86.34:0.00,23.30:0.00,63.04:0.00,1.00:0.00,1.00:0.00,1.00:60,60:15.8,35.7:0,0:0,0:110,93:41,51:23,22:-,NM_000313.3(PROS1) c.-48C>A:-,NOT_FOUND:-,NOT_FOUND 3 93699327 . G . . NT END=93714717;NT GT ./. 3 93714789 . G . . NT END=93722502;NT GT ./. 3 93722753 . G . . NT END=93733227;NT GT ./. 3 93734114 . C . . NT END=93754174;NT GT ./. 3 93754080 rs374163446 CA C 17 idl,rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=CA/0.642,C/0.358;NP=25;Gene=ARL13B/NM_001174150.1/0;CC=c.381-77delA;VC=Intron;Gene=ARL13B/NM_001174151.1/0;CC=c.72-77delA;VC=Intron;Gene=ARL13B/NM_144996.3/0;CC=c.60-77delA;VC=Intron;Gene=ARL13B/NM_182896.2/1;CC=c.381-77delA;VC=Intron;Gene=ARL13B/NR_033427.1/0;VC=NonCoding;DM=ARL13B/Arf;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:178:CA,C:18:20:0:8:12,6:386,255:0.00,16.67:0.00,16.67:0.00,0.00:0.00,0.94:0.00,0.94:0.00,0.00:60,60:21.2,5.8:0,2:0,0:34,55:115,95:21,33:-,NM_182896.2(ARL13B) c.381-94delA:-,NOT_FOUND:-,NOT_FOUND 3 93754286 . G . . NT END=93755395;NT GT ./. 3 93754286 rs368491848 GT G 13 idl,rn VT=DEL;SST=Single;DP=48;DB;DBA=NA;PAF=NA;NP=41;PC=0.991;Gene=ARL13B/NM_001174150.1/0;CC=c.486+22delT;VC=Intron;Gene=ARL13B/NM_001174151.1/0;CC=c.177+22delT;VC=Intron;Gene=ARL13B/NM_144996.3/0;CC=c.165+22delT;VC=Intron;Gene=ARL13B/NM_182896.2/1;CC=c.486+22delT;VC=Intron;Gene=ARL13B/NR_033427.1/0;VC=NonCoding;DM=ARL13B/Arf;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:GT,T,I,G:47:20:5:6:36,1,4,6:1137,10,165,175:0.00,-0.14,9.44,12.87:0.00,-0.12,2.26,-0.75:0.00,-0.02,7.18,13.62:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.98:60,60,60,60:23.0,79.0,22.8,48.7:0,0,1,0:0,0,0,0:119,87,94,95:22,50,57,55:20,0,13,8:-,NM_182896.2(ARL13B) c.486+7delT:-,NOT_FOUND:-,NOT_FOUND 3 93755599 . G . . NT END=93758723;NT GT ./. 3 93758833 . G . . NT END=93761858;NT GT ./. 3 93762085 . G . . NT END=93768249;NT GT ./. 3 93768367 . G . . NT END=93769667;NT GT ./. 3 93768420 . GA G 6 rn VT=DEL;SST=Single;DP=31;NP=17;Gene=ARL13B/NM_001174150.1/0;CC=c.1141+65delA;VC=Intron;Gene=ARL13B/NM_001174151.1/0;CC=c.832+65delA;VC=Intron;Gene=ARL13B/NM_144996.3/0;CC=c.820+65delA;VC=Intron;Gene=ARL13B/NM_182896.2/1;CC=c.1141+65delA;VC=Intron;Gene=ARL13B/NR_033427.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:31:A,GA,T,I,G:31:1:2:3:1,24,1,2,3:8,760,7,57,90:-0.17,0.00,-0.21,3.58,6.33:-0.01,0.00,-0.01,-0.03,-0.04:-0.16,0.00,-0.19,3.61,6.38:0.00,0.00,0.00,0.00,0.42:0.00,0.00,0.00,0.00,0.40:0.00,0.00,0.00,0.00,0.88:60,60,60,60,60:158.0,26.0,7.0,10.5,21.0:0,0,0,0,0:0,0,0,0,0:127,118,45,101,78:13,33,106,49,73:0,23,0,8,10:-,NM_182896.2(ARL13B) c.1141+55delA:-,NOT_FOUND:-,NOT_FOUND 3 93769737 . G . . NT END=93772030;NT GT ./. 3 93769932 rs62265488 A G 7 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8768,G/0.1232;PC=0.085;Gene=ARL13B/NM_001174150.1/0;CC=c.1210+196A>G;VC=Intron;Gene=ARL13B/NM_001174151.1/0;CC=c.901+196A>G;VC=Intron;Gene=ARL13B/NM_144996.3/0;CC=c.889+196A>G;VC=Intron;Gene=ARL13B/NM_182896.2/1;CC=c.1210+196A>G;VC=Intron;Gene=ARL13B/NR_033427.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:A,G:7:0:0:0:4,3:135,80:0.00,7.34:0.00,0.00:0.00,7.34:0.00,0.69:0.00,0.00:0.00,0.69:60,60:0.0,26.7:0,0:0,0:96,136:54,15:11,2:-,NM_182896.2(ARL13B) c.1210+196A>G:-,0.15:-,NOT_FOUND 3 93772108 . A . . NT END=93779791;NT GT ./. 3 93780109 rs61739170 G C 223 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=135;DB;DBA=NA;PAF=G/0.8778,C/0.1222;PC=0.974;Gene=DHFRL1/NM_176815.4/1;CC=c.247C>G;ProtCh=p.P83A;VC=Missense;Gene=DHFRL1/NM_001195643.1/0;CC=c.247C>G;ProtCh=p.P83A;VC=Missense;DM=DHFRL1/DHFR_1;DM=DHFRL1/DHFR_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:135:79:0:0:70,65:2306,1947:223.46,0.00:106.30,0.00:117.17,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.4,9.8:0,0:0,0:70,71:78,76:29,36:NM_001195643.1(DHFRL1) c.247C>G (p.Pro83Ala),-:0.15,-:0.173612,- 3 93780451 . C . . NT END=93781970;NT GT ./. 3 93781983 . G . . NT END=93783280;NT GT ./. 3 93783391 . G . . NT END=93802950;NT GT ./. 3 93803295 . G . . NT END=93812983;NT GT ./. 3 93812793 rs10934674 G T 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8766,T/0.1234;Gene=NSUN3/NM_022072.3/1;CC=c.467-191G>T;VC=Intron;DM=NSUN3/Nol1_Nop2_Fmu GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:G,T:6:6:0:0:3,3:100,90:0.00,8.62:0.00,8.62:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,69.7:0,0:0,0:4,51:146,99:2,13:-,NM_022072.3(NSUN3) c.467-191G>T:-,0.15:-,NOT_FOUND 3 93813139 . G . . NT END=93813876;NT GT ./. 3 93813171 rs10934676 C G 67 nt VT=SNV;PN=A;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.8646,G/0.1354,T/.;Gene=NSUN3/NM_022072.3/1;CC=c.621+33C>G;VC=Intron;DM=NSUN3/Nol1_Nop2_Fmu GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:37:23:0:0:16,21:516,682:0.00,67.20:0.00,25.90:0.00,41.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.3,35.9:0,0:0,0:128,108:22,32:14,15:-,NM_022072.3(NSUN3) c.621+33C>G:-,0.16:-,0.183531 3 93813999 . G . . NT END=93845054;NT GT ./. 3 93844903 . CA C 8 idl,rn VT=DEL;SST=Single;DP=13;NP=2;PC=0.038;Gene=NSUN3/NM_022072.3/1;CC=c.744-138delA;VC=Intron;DM=NSUN3/Nol1_Nop2_Fmu;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:83:CA,I,C:11:13:2:4:7,1,3:235,54,131:0.00,1.23,8.42:0.00,1.23,8.42:0.00,0.00,0.00:0.00,0.00,0.58:0.00,0.00,0.58:0.00,0.00,0.00:60,60,60:6.4,43.0,3.3:0,1,1:0,0,0:21,47,42:130,103,109:16,35,36:-,NM_022072.3(NSUN3) c.744-151delA:-,NOT_FOUND:-,NOT_FOUND 3 93845335 . C . . NT END=96533467;NT GT ./. 3 94043077 rs199617550 CGT C 15 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=72;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:CGT,C:7:5:0:7:2,5:69,178:0.00,15.41:0.00,6.11:0.00,9.30:0.00,0.97:0.00,0.99:0.00,0.98:60,60:13.0,46.2:0,1:0,0:74,78:36,72:3,22:-,chr3 g.94043078_94043079delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 94225343 rs62265544 G T 23 nt VT=SNV;PN=G;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.013 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:197:22.99:22.99:0.00:1.00:1.00:0.00:40:79.6:0:0:30:121:26:chr3 g.94225342G>T (intergenic),chr3 g.94225342G>T (intergenic):0.33,0.33:NOT_FOUND,NOT_FOUND 3 94225375 rs62265545 G A 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=NA;PC=0.246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:7:0:0:7:207:23.99:23.99:0.00:1.00:1.00:0.00:40:79.6:0:0:62:89:26:chr3 g.94225374G>A (intergenic),chr3 g.94225374G>A (intergenic):0.35,0.35:NOT_FOUND,NOT_FOUND 3 94225516 rs3816841 A G 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7476,G/0.2524;NP=83;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:3:A,G:4:4:0:0:1,3:7,104:0.00,10.95:0.00,9.02:0.00,1.93:0.00,0.85:0.00,0.85:0.00,0.83:50,40:36.0,46.0:0,0:0,0:96,13:55,138:0,6:-,chr3 g.94225515A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 94225786 rs1906643 G T 145 nt VT=SNV;PN=T;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.5026,T/0.4974;PC=0.198 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:110:T:40:31:0:0:40:1261:145.12:108.36:36.76:1.00:1.00:1.00:60:35.8:0:0:47:103:21:chr3 g.94225785G>T (intergenic),chr3 g.94225785G>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 94226102 rs11717585 G C 238 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.5493,C/0.4507;PC=0.997 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:C:64:35:0:0:64:2078:238.21:104.06:134.14:1.00:1.00:1.00:60:42.5:0:0:75:72:28:chr3 g.94226101G>C (intergenic),chr3 g.94226101G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 94226432 rs9813684 A C 411 nt VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=A/0.5833,C/0.4167;PC=0.996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,T:118:66:0:0:117,1:3564,36:411.49,1.99:170.83,0.99:240.66,0.99:1.00,0.00:1.00,0.00:1.00,0.00:60,59:38.4,36.0:0,0:0,0:88,124:63,27:30,0:chr3 g.94226431A>C (intergenic),chr3 g.94226431A>C (intergenic):0.4,0.4:NOT_FOUND,NOT_FOUND 3 94226568 rs9813962 A G 145 nt VT=SNV;PN=C;NN=C;SST=Single;DP=39;DB;DBA=NA;PAF=A/0.5831,G/0.4169;PC=0.104 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:G:39:1:0:0:39:1264:144.91:2.04:142.87:1.00:1.00:1.00:60:46.6:0:0:68:83:32:chr3 g.94226567A>G (intergenic),chr3 g.94226567A>G (intergenic):0.4,0.4:NOT_FOUND,NOT_FOUND 3 94403334 . TTG T,TTGTG 7 nt VT=INS;SST=Single;DP=4;NP=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:3:TTG,TTGTG,T:4:3:2:1:1,2,1:33,65,34:0.00,6.55,3.15:0.00,3.17,1.51:0.00,3.38,1.64:0.00,0.51,0.00:0.00,0.89,0.00:0.00,0.79,0.00:60,60,60:12.0,19.0,0.0:0,0,0:0,0,0:138,67,38:13,83,100:0,43,0:chr3 g.94403335_94403336delTG (intergenic),chr3 g.94403336_94403337insTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 94669230 rs6147960 TAC T,TACACAC 11 idl,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=161;PC=0.020 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:26:TACACAC,T:4:3:1:3:1,3:32,95:3.08,10.56:0.00,7.10:3.08,3.45:0.00,0.85:0.00,0.99:0.00,0.99:60,60:12.0,18.3:0,0:0,0:36,63:115,73:0,24:NR_015400.1(LOC255025) n.64+12061_64+12062delAC,NR_015400.1(LOC255025) n.64+12061AC[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 95900442 rs55924794 AT A 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AT/0.6911,A/0.3089;NP=322;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:4:4:121:14.01:7.10:6.90:1.00:1.00:1.00:60:107.0:0:0:50:89:20:chr3 g.95900443delT (intergenic),chr3 g.95900443delT (intergenic):0.34,0.34:NOT_FOUND,NOT_FOUND 3 96068956 rs4857197 T C 194 nt VT=SNV;PN=T;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.03834,C/0.9617;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:148:C:53:30:0:0:53:1684:193.57:96.53:97.04:1.00:1.00:1.00:60:41.5:0:0:105:46:32:chr3 g.96068955T>C (intergenic),chr3 g.96068955T>C (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 3 96069450 rs34039875 CAT C 23 nt VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=CAT/0.6845,C/0.3155;NP=1981;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CAT,C:29:16:0:8:21,8:718,263:0.00,22.70:0.00,13.23:0.00,9.47:0.00,0.98:0.00,0.98:0.00,1.00:60,60:7.3,1.4:0,0:0,0:89,69:61,69:27,26:-,chr3 g.96069451_96069452delAT (intergenic):-,0.33:-,NOT_FOUND 3 96336236 rs7625370 G T 23 nt VT=SNV;PN=A;NN=G;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.2967,T/0.7033;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:182:G,T:13:2:0:0:6,7:177,235:0.00,22.96:0.00,1.52:0.00,21.44:0.00,0.99:0.00,0.82:0.00,1.00:60,59:12.2,36.3:0,0:0,0:87,89:63,61:17,31:-,chr3 g.96336235G>T (intergenic):-,0.66:-,NOT_FOUND 3 96495646 rs9814087 T C 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6963,C/0.3037;PC=0.017 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:109:C,T:10:9:0:0:6,4:184,109:18.36,0.00:13.32,0.00:5.03,0.00:0.99,0.00:1.00,0.00:0.94,0.00:60,60:30.7,36.8:0,0:0,0:26,27:125,119:11,21:chr3 g.96495645T>C (intergenic),-:0.33,-:NOT_FOUND,- 3 96495953 rs571083524 G C 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9988,C/0.001198;NP=3;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,G:13:5:0:0:6,7:189,233:17.86,0.00:7.83,0.00:10.03,0.00:0.97,0.00:0.95,0.00:1.00,0.00:60,60:36.7,22.3:0,0:0,0:73,114:78,37:47,18:chr3 g.96495952G>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 96496248 rs7624300 G A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.8754,A/0.1246;PC=0.998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:60:A,G:7:6:0:0:5,2:155,66:16.06,0.00:16.61,0.00:-0.54,0.00:0.98,0.00:1.00,0.00:0.81,0.00:60,60:41.6,34.0:3,0:0,0:114,76:35,74:22,71:chr3 g.96496247G>A (intergenic),-:0.12,-:NOT_FOUND,- 3 96496250 rs140350603 G GGT 8 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.892,GGT/0.108,GGTGT/.;NP=237;PC=1.000;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:G,GGT:7:6:3:0:4,3:109,89:0.00,8.26:0.00,8.50:0.00,-0.24:0.00,0.69:0.00,0.95:0.00,0.62:60,60:31.2,50.3:0,0:0,0:138,101:13,50:5,15:-,chr3 g.96496250_96496251insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 96533853 . G . . NT END=96585668;NT GT ./. 3 96585734 . G . . NT END=96706173;NT GT ./. 3 96601612 rs6782935 G GTGTGTGTATA 17 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7198,A/0.2802;PC=0.009;Gene=EPHA6/NM_001278301.1/0;CC=c.450+15880_450+15881insGTGTGTATAT;VC=Intron;Gene=EPHA6/NM_001080448.2/1;CC=c.450+15880_450+15881insGTGTGTATAT;VC=Intron;DM=EPHA6/Ephrin_lbd;DM=EPHA6/Ephrin_lbd;DM=EPHA6/Pkinase_Tyr;DM=EPHA6/Pkinase_Tyr;DM=EPHA6/Pkinase_Tyr;DM=EPHA6/Ephrin_lbd;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:G,GTGTGTGTATA:6:4:5:0:1,5:36,155:0.00,16.71:0.00,8.56:0.00,8.15:0.00,0.99:0.00,1.00:0.00,1.00:60,70:0.0,32.4:0,0:0,0:107,60:5,91:0,28:-,NM_001080448.2(EPHA6) c.450+15879_450+15880insTGTGTGTATA:-,NOT_FOUND:-,NOT_FOUND 3 96706838 . G . . NT END=96728847;NT GT ./. 3 96728829 . GT G 7 rn VT=DEL;SST=Single;DP=27;PC=0.190;Gene=EPHA6/NM_001278301.1/0;CC=c.1115-6delT;VC=Intron;Gene=EPHA6/NM_001080448.2/1;CC=c.1114+22005delT;VC=Intron;DM=EPHA6/fn3;DM=EPHA6/GCC2_GCC3;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:46:GT,G:26:23:0:4:23,3:718,130:0.00,7.40:0.00,3.59:0.00,3.80:0.00,0.44:0.00,0.85:0.00,0.62:60,60:22.0,9.7:0,1:0,0:40,71:109,79:36,48:-,NM_001080448.2(EPHA6) c.1114+21993delT:-,NOT_FOUND:-,NOT_FOUND 3 96728972 . G . . NT END=96945107;NT GT ./. 3 96945264 . G . . NT END=96962795;NT GT ./. 3 96963132 . G . . NT END=97123993;NT GT ./. 3 97124119 . G . . NT END=97158436;NT GT ./. 3 97158502 . G . . NT END=97160259;NT GT ./. 3 97160317 . g . . NT END=97166561;NT GT ./. 3 97166678 . G . . NT END=97167411;NT GT ./. 3 97167575 . G . . NT END=97185262;NT GT ./. 3 97185327 . g . . NT END=97194195;NT GT ./. 3 97194305 . G . . NT END=97198137;NT GT ./. 3 97194422 rs7624823 T G 38 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.002796,G/0.9972;NP=1299;Gene=EPHA6/NM_001080448.2/1;CC=c.2003+118T>G;VC=Intron;Gene=EPHA6/NM_001278300.1/0;CC=c.179+118T>G;VC=Intron;Gene=EPHA6/NM_173655.3/0;CC=c.179+118T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:G:10:0:0:0:10:337:38.47:0.00:38.47:1.00:0.00:1.00:60:34.8:0:0:85:65:24:NM_001080448.2(EPHA6) c.2003+118T>G,NM_001080448.2(EPHA6) c.2003+118T>G:1,1:NOT_FOUND,NOT_FOUND 3 97197948 rs967571 C T 19 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.01757,T/0.9824;Gene=EPHA6/NM_001080448.2/1;CC=c.2004-190C>T;VC=Intron;Gene=EPHA6/NM_001278300.1/0;CC=c.180-190C>T;VC=Intron;Gene=EPHA6/NM_173655.3/0;CC=c.180-190C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:162:18.58:18.58:0.00:1.00:1.00:0.00:60:34.2:0:0:94:57:26:NM_001080448.2(EPHA6) c.2004-190C>T,NM_001080448.2(EPHA6) c.2004-190C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 97198112 . G GT 13 rn VT=INS;SST=Single;DP=33;Gene=EPHA6/NM_001080448.2/1;CC=c.2004-15dupT;VC=Intron;Gene=EPHA6/NM_001278300.1/0;CC=c.180-15dupT;VC=Intron;Gene=EPHA6/NM_173655.3/0;CC=c.180-15dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:G,GT,D:33:31:5:1:27,5,1:937,166,34:0.00,12.96,2.00:0.00,10.35,-0.28:0.00,2.62,2.28:0.00,0.79,0.00:0.00,0.98,0.00:0.00,0.81,0.00:60,60,60:17.5,2.0,0.0:0,0,0:0,0,0:49,77,78:100,73,71:17,21,0:-,NM_001080448.2(EPHA6) c.2004-26_2004-25insT:-,NOT_FOUND:-,NOT_FOUND 3 97198209 . G . . NT END=97202777;NT GT ./. 3 97202904 . G . . NT END=97251201;NT GT ./. 3 97251388 . G . . NT END=97311455;NT GT ./. 3 97311582 . G . . NT END=97329636;NT GT ./. 3 97329699 . G . . NT END=97356716;NT GT ./. 3 97356927 . G . . NT END=97364962;NT GT ./. 3 97364939 rs12488895 A G 55 nt VT=SNV;PN=C;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.9623,G/0.03774;Gene=EPHA6/NM_001080448.2/1;CC=c.2784+8013A>G;VC=Intron;Gene=EPHA6/NM_001278300.1/0;CC=c.961-24A>G;VC=Intron;Gene=EPHA6/NM_173655.3/0;CC=c.961-2191A>G;VC=Intron;DM=EPHA6/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:42:0:0:28,20:910,593:0.00,54.68:0.00,38.61:0.00,16.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:25.4,61.0:0,0:0,0:50,37:96,112:26,26:-,NM_001080448.2(EPHA6) c.2784+8013A>G:-,0.05:-,NOT_FOUND 3 97365038 rs301948 G A 285 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=G/0.3536,A/0.6464;PC=0.007;Gene=EPHA6/NM_001080448.2/1;CC=c.2784+8112G>A;VC=Intron;Gene=EPHA6/NM_001278300.1/0;CC=c.1036G>A;ProtCh=p.E346K;VC=Missense;Gene=EPHA6/NM_173655.3/0;CC=c.961-2092G>A;VC=Intron;DM=EPHA6/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:76:56:0:0:76:2491:285.26:168.92:116.35:1.00:1.00:1.00:60:61.1:0:0:78:70:35:NM_001080448.2(EPHA6) c.2784+8112G>A,NM_001080448.2(EPHA6) c.2784+8112G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 3 97365074 rs301949 A G 250 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.3395,C/.,G/0.6605;Gene=EPHA6/NM_001080448.2/1;CC=c.2784+8148A>G;VC=Intron;Gene=EPHA6/NM_001278300.1/0;CC=c.1072A>G;ProtCh=p.M358V;VC=Missense;Gene=EPHA6/NM_173655.3/0;CC=c.961-2056A>G;VC=Intron;DM=EPHA6/Pkinase_Tyr GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:45:0:0:70:2174:250.44:122.33:128.10:1.00:1.00:1.00:60:60.7:0:0:80:69:35:NM_001080448.2(EPHA6) c.2784+8148A>G,NM_001080448.2(EPHA6) c.2784+8148A>G:0.64,0.64:NOT_FOUND,NOT_FOUND 3 97365155 . G . . NT END=97367129;NT GT ./. 3 97367230 . C CA 177 PASS VT=INS;SST=Single;DP=48;NP=2700;Gene=EPHA6/NM_001080448.2/1;CC=c.2784+10304_2784+10305insA;VC=Intron;Gene=EPHA6/NM_001278300.1/0;CC=c.*56_*57insA;VC=3UTR;Gene=EPHA6/NM_173655.3/0;CC=c.*56_*57insA;VC=3UTR;DM=EPHA6/Pkinase_Tyr;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:134:CA:48:38:48:0:48:1544:177.29:111.20:66.08:1.00:1.00:1.00:60:4.7:0:0:61:83:32:NM_001080448.2(EPHA6) c.2784+10304_2784+10305insA,NM_001080448.2(EPHA6) c.2784+10304_2784+10305insA:0.64,0.64:0.620269,0.620269 3 97367422 . G . . NT END=97439104;NT GT ./. 3 97439255 . G . . NT END=97454768;NT GT ./. 3 97454963 . G . . NT END=97466266;NT GT ./. 3 97466046 rs9289445 A G 68 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.4772,G/0.5228;PC=0.817;Gene=EPHA6/NM_001080448.2/1;CC=c.3129-221A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:G:18:18:0:0:18:595:68.06:68.06:0.00:1.00:1.00:0.00:60:39.9:0:0:45:105:25:NM_001080448.2(EPHA6) c.3129-221A>G,NM_001080448.2(EPHA6) c.3129-221A>G:0.53,0.53:NOT_FOUND,NOT_FOUND 3 97466417 . G . . NT END=97467430;NT GT ./. 3 97466432 rs79617067 T G 246 nt VT=SNV;PN=G;NN=T;SST=Single;DP=66;DB;DBA=NA;PAF=T/0.7827,G/0.2173;Gene=EPHA6/NM_001080448.2/1;CC=c.3278+16T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:167:C,G:66:29:0:0:1,65:21,2157:0.82,246.21:0.00,72.90:0.82,173.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,39.0:0,0:0,0:133,78:17,69:0,32:NM_001080448.2(EPHA6) c.3278+16T>G,NM_001080448.2(EPHA6) c.3278+16T>G:0.25,0.25:0.193153,0.193153 3 97467361 rs72218556 ATCTC A 46 sb,nt VT=DEL;SST=Single;DP=15;DB;DBA=NA;PAF=ATCTC/0.528,A/0.472;DB;DBA=NA;PAF=ATCTC/0.528,A/0.472;DB;DBA=NA;PAF=ATCTC/0.528,A/0.472;NP=622;Gene=EPHA6/NM_001080448.2/1;CC=c.3279-52_3279-49delCTCT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:31:A:14:14:0:15:14:433:46.09:44.97:1.12:1.00:1.00:1.00:60:6.1:1:0:61:90:33:NM_001080448.2(EPHA6) c.3279-69_3279-66delTCTC,NM_001080448.2(EPHA6) c.3279-69_3279-66delTCTC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 97467546 . A . . NT END=97486951;NT GT ./. 3 97487075 . G . . NT END=97499002;NT GT ./. 3 97487239 rs1567058 C T 42 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2085,T/0.7915;Gene=ARL6/NM_001278293.1/0;CC=c.123+165C>T;VC=Intron;Gene=ARL6/NM_032146.4/1;CC=c.123+165C>T;VC=Intron;Gene=ARL6/NM_177976.2/0;CC=c.123+165C>T;VC=Intron;Gene=ARL6/NR_103511.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:0:0:0:12:363:42.02:0.00:42.02:1.00:0.00:1.00:60:40.3:0:0:91:49:46:NM_032146.3(ARL6) c.123+165C>T,NM_032146.3(ARL6) c.123+165C>T:0.81,0.81:NOT_FOUND,NOT_FOUND 3 97499065 . G . . NT END=97499458;NT GT ./. 3 97499528 . G . . NT END=97503798;NT GT ./. 3 97499654 rs10935082 T A 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.1945,A/0.8055;PC=0.010;Gene=ARL6/NM_001278293.1/0;CC=c.254+127T>A;VC=Intron;Gene=ARL6/NM_032146.4/1;CC=c.254+127T>A;VC=Intron;Gene=ARL6/NM_177976.2/0;CC=c.254+127T>A;VC=Intron;Gene=ARL6/NR_103511.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:403:46.47:0.00:46.47:1.00:0.00:1.00:60:47.3:0:0:106:44:32:NM_032146.3(ARL6) c.254+127T>A,NM_032146.3(ARL6) c.254+127T>A:0.83,0.83:NOT_FOUND,NOT_FOUND 3 97499729 rs9854857 T C 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4968,C/0.5032;Gene=ARL6/NM_001278293.1/0;CC=c.254+202T>C;VC=Intron;Gene=ARL6/NM_032146.4/1;CC=c.254+202T>C;VC=Intron;Gene=ARL6/NM_177976.2/0;CC=c.254+202T>C;VC=Intron;Gene=ARL6/NR_103511.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:6:0:0:0:6:126:15.13:0.00:15.13:1.00:0.00:1.00:60:53.8:0:0:84:66:13:NM_032146.3(ARL6) c.254+202T>C,NM_032146.3(ARL6) c.254+202T>C:0.52,0.52:NOT_FOUND,NOT_FOUND 3 97503894 . G . . NT END=97506833;NT GT ./. 3 97503929 rs200081059 G A 57 nt VT=SNV;PN=T;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.9984,A/0.001597;NP=84;Gene=ARL6/NM_001278293.1/0;CC=c.349+36G>A;VC=Intron;Gene=ARL6/NM_032146.4/1;CC=c.349+36G>A;VC=Intron;Gene=ARL6/NM_177976.2/0;CC=c.349+36G>A;VC=Intron;Gene=ARL6/NR_103511.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:32:9:0:0:18,14:575,427:56.56,0.00:9.74,0.00:46.81,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.3,0.9:0,0:0,0:118,123:33,28:18,20:NM_032146.3(ARL6) c.349+36G>A,-:0.0018,-:0.007227,- 3 97506964 . G . . NT END=97510614;NT GT ./. 3 97510671 . G . . NT END=97516867;NT GT ./. 3 97516894 . A . . NT END=97541050;NT GT ./. 3 97517118 rs4857294 G C 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.04213,C/0.9579;PC=0.004;Gene=ARL6/NM_001278293.1/0;CC=c.*225G>C;VC=3UTR;Gene=ARL6/NM_032146.4/1;CC=c.*225G>C;VC=3UTR;Gene=ARL6/NM_177976.2/0;CC=c.*225G>C;VC=3UTR;Gene=ARL6/NR_103511.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:202:23.06:0.00:23.06:1.00:0.00:1.00:60:36.7:0:0:105:43:23:NM_032146.3(ARL6) c.*225G>C,NM_032146.3(ARL6) c.*225G>C:0.95,0.95:NOT_FOUND,NOT_FOUND 3 97541018 rs974572 C T 273 nt VT=SNV;PN=T;NN=A;SST=Single;DP=76;DB;DBA=NA;PAF=C/0.5395,T/0.4605;Gene=CRYBG3/NM_153605.3/1;CC=c.-33C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:76:68:0:0:76:2372:273.30:194.70:78.60:1.00:1.00:1.00:60:44.4:0:0:66:82:30:NM_153605.3(CRYBG3) c.-33C>T,NM_153605.3(CRYBG3) c.-33C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 3 97541200 . G . . NT END=97562038;NT GT ./. 3 97562106 . G . . NT END=97583060;NT GT ./. 3 97583492 . G . . NT END=97590685;NT GT ./. 3 97583676 rs3856567 A G 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5258,G/0.4742;Gene=CRYBG3/NM_153605.3/1;CC=c.647+185A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:117:13.59:0.00:13.59:1.00:0.00:1.00:60:37.2:0:0:93:57:32:NM_153605.3(CRYBG3) c.647+185A>G,NM_153605.3(CRYBG3) c.647+185A>G:0.5,0.5:NOT_FOUND,NOT_FOUND 3 97594261 rs6782766 G A 273 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.5254,A/0.4746;PC=0.996;Gene=CRYBG3/NM_153605.3/1;CC=c.4223G>A;ProtCh=p.G1408E;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:75:54:0:0:75:2373:272.90:150.68:122.21:1.00:1.00:1.00:60:43.3:0:0:74:74:35:NM_153605.3(CRYBG3) c.4223G>A (p.Gly1408Glu),NM_153605.3(CRYBG3) c.4223G>A (p.Gly1408Glu):0.5,0.5:NOT_FOUND,NOT_FOUND 3 97595379 rs6786354 G A 323 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=88;DB;DBA=NA;PAF=G/0.5246,A/0.4754;Gene=CRYBG3/NM_153605.3/1;CC=c.5341G>A;ProtCh=p.V1781M;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:88:59:0:0:88:2807:322.50:174.85:147.65:1.00:1.00:1.00:60:35.6:0:0:71:75:41:NM_153605.3(CRYBG3) c.5341G>A (p.Val1781Met),NM_153605.3(CRYBG3) c.5341G>A (p.Val1781Met):0.5,0.5:NOT_FOUND,NOT_FOUND 3 97595566 rs79662584 T C 163 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=113;DB;DBA=NA;PAF=T/0.9836,C/0.01637;Gene=CRYBG3/NM_153605.3/1;CC=c.5528T>C;ProtCh=p.I1843T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:113:68:0:0:52,61:1722,1900:163.15,0.00:76.74,0.00:86.41,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.6,7.4:0,0:0,0:78,54:72,88:35,33:NM_153605.3(CRYBG3) c.5528T>C (p.Ile1843Thr),-:0.02,-:NOT_FOUND,- 3 97595757 rs189228302 A G 136 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=105;DB;DBA=NA;PAF=A/0.9984,G/0.001597;NP=41;Gene=CRYBG3/NM_153605.3/1;CC=c.5719A>G;ProtCh=p.T1907A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:105:58:0:0:61,44:1856,1457:0.00,135.70:0.00,49.71:0.00,85.99:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,39.7:0,0:0,0:86,86:51,63:38,32:-,NM_153605.3(CRYBG3) c.5719A>G (p.Thr1907Ala):-,0.0018:-,NOT_FOUND 3 97596882 . G . . NT END=97598547;NT GT ./. 3 97598593 . G . . NT END=97598828;NT GT ./. 3 97598945 . G . . NT END=97599915;NT GT ./. 3 97600064 . G . . NT END=97605474;NT GT ./. 3 97605313 rs9862347 A T 36 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.386,T/0.614;Gene=CRYBG3/NM_153605.3/1;CC=c.7153-162A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:1:10:317:36.47:36.47:0.00:1.00:1.00:0.00:60:34.9:0:0:22:128:15:NM_153605.3(CRYBG3) c.7153-162A>T,NM_153605.3(CRYBG3) c.7153-162A>T:0.69,0.69:NOT_FOUND,NOT_FOUND 3 97605460 . AT A 9 idl,rn VT=DEL;SST=Single;DP=44;NP=18;PC=0.010;Gene=CRYBG3/NM_153605.3/1;CC=c.7153-4delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:AT,I,A:43:38:2:5:37,2,4:1124,58,165:0.00,3.33,9.42:0.00,1.83,4.44:0.00,1.50,4.98:0.00,0.00,0.57:0.00,0.00,0.91:0.00,0.00,0.80:60,60,60:8.9,66.0,2.5:1,0,1:0,0,0:67,79,67:76,71,81:31,42,13:-,NM_153605.3(CRYBG3) c.7153-14delT:-,NOT_FOUND:-,NOT_FOUND 3 97605612 . G . . NT END=97607184;NT GT ./. 3 97605677 rs831902 A G 91 nt VT=SNV;PN=C;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.5174,G/0.4826;Gene=CRYBG3/NM_153605.3/1;CC=c.7289+66A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:57:G,T:26:4:0:0:25,1:796,10:91.09,0.30:9.40,0.00:81.69,0.30:1.00,0.00:1.00,0.00:1.00,0.00:60,60:51.8,118.0:0,0:0,0:99,116:47,34:29,0:NM_153605.3(CRYBG3) c.7289+66A>G,NM_153605.3(CRYBG3) c.7289+66A>G:0.51,0.51:NOT_FOUND,NOT_FOUND 3 97607300 . G . . NT END=97608198;NT GT ./. 3 97608235 . G . . NT END=97611703;NT GT ./. 3 97611838 . G . . NT END=97614802;NT GT ./. 3 97611916 rs1506441 A C 86 nt VT=SNV;PN=A;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.5256,C/0.4744;Gene=CRYBG3/NM_153605.3/1;CC=c.7574+79A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:C:24:9:0:0:24:743:85.65:21.04:64.62:1.00:1.00:1.00:60:34.6:0:0:87:63:27:NM_153605.3(CRYBG3) c.7574+79A>C,NM_153605.3(CRYBG3) c.7574+79A>C:0.5,0.5:NOT_FOUND,NOT_FOUND 3 97614930 . G . . NT END=97617726;NT GT ./. 3 97617870 . G . . NT END=97617980;NT GT ./. 3 97618108 . G . . NT END=97619296;NT GT ./. 3 97619250 rs5851085 C CAACTA 84 nt VT=INS;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.5182,CAACCA/.,CAACTA/0.4818,CAGCTA/.;NP=1;NP=1477;Gene=CRYBG3/NM_153605.3/1;CC=c.7972-46_7972-45insACTAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:CAACTA:23:18:23:0:23:731:84.06:55.70:28.36:1.00:1.00:1.00:70:4.0:0:0:56:93:15:NM_153605.3(CRYBG3) c.7972-47_7972-46insAACTA,NM_153605.3(CRYBG3) c.7972-47_7972-46insAACTA:NOT_FOUND,NOT_FOUND:0.424047,0.424047 3 97619330 . G . . NT END=97631010;NT GT ./. 3 97631121 . G . . NT END=97634453;NT GT ./. 3 97634253 rs831877 C T 47 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.2893,T/0.7107;PC=0.001;Gene=CRYBG3/NM_153605.3/1;CC=c.8115-201C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:12:0:0:12:415:47.22:47.22:0.00:1.00:1.00:0.00:60:38.0:0:0:38:113:23:NM_153605.3(CRYBG3) c.8115-201C>T,NM_153605.3(CRYBG3) c.8115-201C>T:0.75,0.75:NOT_FOUND,NOT_FOUND 3 97634581 . G . . NT END=97652537;NT GT ./. 3 97652366 . TTAA T 18 nt VT=DEL;SST=Single;DP=13;Gene=CRYBG3/NM_153605.3/1;CC=c.8242-168_8242-166delTAA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTAA,T:13:13:0:6:7,6:230,189:0.00,17.87:0.00,17.87:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:0.0,0.8:0,0:0,0:54,57:97,93:37,26:-,NM_153605.3(CRYBG3) c.8242-171_8242-169delTAA:-,NOT_FOUND:-,NOT_FOUND 3 97652678 . G . . NT END=97655628;NT GT ./. 3 97655753 . G . . NT END=97659991;NT GT ./. 3 97659865 rs2201151 G T 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.5248,T/0.4752;PC=0.007;Gene=CRYBG3/NM_153605.3/1;CC=c.8506-127G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:16:0:0:16:452:52.75:52.75:0.00:1.00:1.00:0.00:60:43.4:0:0:43:107:23:NM_153605.3(CRYBG3) c.8506-127G>T,NM_153605.3(CRYBG3) c.8506-127G>T:0.51,0.51:NOT_FOUND,NOT_FOUND 3 97660106 rs4857302 A C 168 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.5186,C/0.4814;PC=0.284;Gene=CRYBG3/NM_153605.3/1;CC=c.8620A>C;ProtCh=p.N2874H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:124:C:45:26:0:0:45:1468:168.18:67.91:100.27:1.00:1.00:1.00:60:51.6:0:0:82:60:44:NM_153605.3(CRYBG3) c.8620A>C (p.Asn2874His),NM_153605.3(CRYBG3) c.8620A>C (p.Asn2874His):0.51,0.51:0.444463,0.444463 3 97660151 . G . . NT END=97661127;NT GT ./. 3 97660198 rs832089 A G 106 nt VT=SNV;PN=T;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.2316,G/0.7684,T/.;Gene=CRYBG3/NM_153605.3/1;CC=c.8664+48A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:G:30:7:0:0:30:918:106.01:13.60:92.41:1.00:1.00:1.00:60:63.4:0:0:105:40:25:NM_153605.3(CRYBG3) c.8664+48A>G,NM_153605.3(CRYBG3) c.8664+48A>G:0.8,0.8:0.767247,0.767247 3 97661288 . G . . NT END=97662069;NT GT ./. 3 97662159 . G . . NT END=97664027;NT GT ./. 3 97664187 . C . . NT END=97664641;NT GT ./. 3 97664725 rs2172257 C T 114 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.522,T/0.478;PC=0.065;Gene=MINA/NM_001042533.2/0;CC=c.1156G>A;ProtCh=p.A386T;VC=Missense;Gene=MINA/NM_001261829.1/1;CC=c.1153G>A;ProtCh=p.A385T;VC=Missense;Gene=MINA/NM_032778.5/0;CC=c.1153G>A;ProtCh=p.A385T;VC=Missense;Gene=MINA/NM_153182.3/0;CC=c.1156G>A;ProtCh=p.A386T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:19:0:0:31:988:113.54:47.79:65.75:1.00:1.00:1.00:60:39.9:0:0:96:54:27:NM_001042533.2(MINA) c.1156G>A (p.Ala386Thr),NM_001042533.2(MINA) c.1156G>A (p.Ala386Thr):0.51,0.51:0.439019,0.439019 3 97664732 . C . . NT END=97666204;NT GT ./. 3 97666294 . C . . NT END=97668687;NT GT ./. 3 97668860 . C . . NT END=97669629;NT GT ./. 3 97669733 . C . . NT END=97670995;NT GT ./. 3 97671097 . C . . NT END=97673235;NT GT ./. 3 97673268 rs832079 A C 277 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=A/0.006989,C/0.993;NP=3469;PC=0.062;Gene=MINA/NM_001042533.2/0;CC=c.753T>G;ProtCh=p.S251=;VC=Silent;Gene=MINA/NM_001261829.1/1;CC=c.753T>G;ProtCh=p.S251=;VC=Silent;Gene=MINA/NM_032778.5/0;CC=c.753T>G;ProtCh=p.S251=;VC=Silent;Gene=MINA/NM_153182.3/0;CC=c.753T>G;ProtCh=p.S251=;VC=Silent;DM=MINA/Cupin_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:74:64:0:0:74:2420:277.14:168.24:108.89:1.00:1.00:1.00:60:40.2:0:0:69:77:25:NM_001042533.2(MINA) c.753T>G (p.(=)),NM_001042533.2(MINA) c.753T>G (p.(=)):1,1:0.998078,0.998078 3 97673340 . C . . NT END=97677894;NT GT ./. 3 97678024 . C . . NT END=97680432;NT GT ./. 3 97678150 rs67345115 G GTT 14 idl,rn VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.906,GT/0.09405;DB;DBA=NA;PAF=G/0.906,GT/0.09405;DB;DBA=NA;PAF=G/0.906,GT/0.09405;PC=0.708;Gene=MINA/NM_001042533.2/0;CC=c.553-128_553-127insAA;VC=Intron;Gene=MINA/NM_001261829.1/1;CC=c.553-128_553-127insAA;VC=Intron;Gene=MINA/NM_032778.5/0;CC=c.553-128_553-127insAA;VC=Intron;Gene=MINA/NM_153182.3/0;CC=c.553-128_553-127insAA;VC=Intron;DM=MINA/Cupin_4;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:G,GTT,D:32:4:13:6:23,6,3:700,369,146:0.00,13.66,6.16:0.00,-0.17,-0.08:0.00,13.83,6.24:0.00,0.87,0.00:0.00,0.47,0.00:0.00,0.99,0.00:60,60,60:21.6,85.2,76.0:0,7,3:0,0,0:131,95,61:20,56,90:14,22,32:-,NM_001042533.2(MINA) c.553-128_553-127insAA:-,NOT_FOUND:-,NOT_FOUND 3 97680553 . C . . NT END=97686005;NT GT ./. 3 97686438 . C . . NT END=97705496;NT GT ./. 3 97705857 . T . . NT END=97711674;NT GT ./. 3 97711915 . A . . NT END=97720415;NT GT ./. 3 97711997 rs937130 G A 107 nt VT=SNV;PN=G;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.636,A/0.364;PC=0.001;Gene=GABRR3/NM_001105580/0;CC=c.908-105C>T;VC=Intron;Gene=GABRR3/NR_047685.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:A:31:5:0:0:31:923:106.99:11.39:95.60:1.00:1.00:1.00:60:46.6:0:0:121:26:18:NR_047685.1(GABRR3) n.1025-105C>T,NR_047685.1(GABRR3) n.1025-105C>T:0.4,0.4:NOT_FOUND,NOT_FOUND 3 97712234 rs937129 G A 15 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4808,A/0.5192;Gene=GABRR3/NM_001105580/0;CC=c.908-342C>T;VC=Intron;Gene=GABRR3/NR_047685.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:131:15.01:0.00:15.01:1.00:0.00:1.00:60:42.5:0:0:89:62:31:NR_047685.1(GABRR3) n.1025-342C>T,NR_047685.1(GABRR3) n.1025-342C>T:0.52,0.52:NOT_FOUND,NOT_FOUND 3 97720265 rs9653929 G A,T 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.6575,A/0.3425 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:18:A,T:9:9:0:0:8,1:271,36:30.51,3.12:30.51,3.12:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:43.1,36.0:0,0:0,0:46,98:105,48:21,0:NR_047685.1(GABRR3) n.1024+194C>T,NR_047685.1(GABRR3) n.1024+194C>A:0.37,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 97720656 . A . . NT END=97726557;NT GT ./. 3 97726747 rs832032 T A 213 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=59;DB;DBA=NA;PAF=A/0.1727,G/.,T/0.8273;PC=1.000;Gene=GABRR3/NM_001105580/0;CC=c.615A>T;ProtCh=p.*205Yext*263;VC=Readthrough;Gene=GABRR3/NR_047685.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:A,T:59:27:0:0:58,1:1869,10:212.81,0.00:71.09,0.00:141.72,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.5,155.0:0,0:0,0:76,127:69,18:36,0:NR_047685.1(GABRR3) n.732A>T,NR_047685.1(GABRR3) n.732A>T:0.83,0.83:0.781928,0.781928 3 97726798 . t . . NT END=97727780;NT GT ./. 3 97727727 rs832030 G C 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2185,A/.,C/0.7815;Gene=GABRR3/NM_001105580/0;CC=c.613+73C>G;VC=Intron;Gene=GABRR3/NR_047685.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:475:54.64:48.82:5.82:1.00:1.00:1.00:60:76.7:0:0:31:120:22:NR_047685.1(GABRR3) n.730+73C>G,NR_047685.1(GABRR3) n.730+73C>G:0.79,0.79:NOT_FOUND,NOT_FOUND 3 97727753 rs832029 G A 68 nt VT=SNV;PN=G;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.2183,A/0.7817;Gene=GABRR3/NM_001105580/0;CC=c.613+47C>T;VC=Intron;Gene=GABRR3/NR_047685.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:A:19:19:0:0:19:590:67.99:52.73:15.26:1.00:1.00:1.00:60:63.2:0:0:42:107:28:NR_047685.1(GABRR3) n.730+47C>T,NR_047685.1(GABRR3) n.730+47C>T:0.79,0.79:0.740462,0.740462 3 97727901 . A . . NT END=97731179;NT GT ./. 3 97731420 . A . . NT END=97736472;NT GT ./. 3 97736593 . C . . NT END=97744407;NT GT ./. 3 97744528 . T . . NT END=97753649;NT GT ./. 3 97744611 rs832041 A G 84 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.7051,G/0.2949;PC=0.003;Gene=GABRR3/NM_001105580/0;CC=c.126-88T>C;VC=Intron;Gene=GABRR3/NR_047685.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:2:0:0:23:735:84.39:4.08:80.31:1.00:1.00:1.00:70:44.2:0:0:111:39:29:NR_047685.1(GABRR3) n.243-88T>C,NR_047685.1(GABRR3) n.243-88T>C:0.31,0.31:NOT_FOUND,NOT_FOUND 3 97744735 rs832042 A C 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1701,C/0.8299;Gene=GABRR3/NM_001105580/0;CC=c.126-212T>G;VC=Intron;Gene=GABRR3/NR_047685.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:A,C:6:0:0:0:1,5:9,166:0.00,17.90:0.00,0.00:0.00,17.90:0.00,0.99:0.00,0.00:0.00,0.99:60,60:94.0,50.2:0,0:0,0:131,115:6,36:0,26:NR_047685.1(GABRR3) n.243-212T>G,NR_047685.1(GABRR3) n.243-212T>G:0.83,0.83:NOT_FOUND,NOT_FOUND 3 97753890 . C . . NT END=97806016;NT GT ./. 3 97805884 rs61357644 T C 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.4734,C/0.5266 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:125:C,T:9:9:0:0:5,4:147,122:14.37,0.00:14.37,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:90.0,28.2:0,0:0,0:51,34:100,116:12,10:NM_054106.1(OR5AC2) c.1-u133T>C,-:0.51,-:NOT_FOUND,- 3 97805954 rs13082722 T C 24 nt VT=SNV;PN=C;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.4004,C/0.5996 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:15:15:0:0:8,7:244,221:23.71,0.00:24.04,0.00:-0.33,0.00:1.00,0.00:1.00,0.00:0.82,0.00:60,60:51.9,41.7:0,0:0,0:76,90:74,60:30,22:NM_054106.1(OR5AC2) c.1-u63T>C,-:0.58,-:NOT_FOUND,- 3 97806616 rs4518168 G A 93 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.4766,A/0.5234;Gene=OR5AC2/NM_054106.1/1;CC=c.600G>A;ProtCh=p.M200I;VC=Missense;DM=OR5AC2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:44:0:0:31,36:986,1135:93.32,0.00:56.30,0.00:37.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,6.4:0,0:0,0:95,89:54,61:38,33:NM_054106.1(OR5AC2) c.600G>A (p.Met200Ile),-:0.51,-:0.516456,- 3 97806947 . A . . NT END=97851541;NT GT ./. 3 97806999 rs6439602 T C 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.1793,C/0.8207 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:52:C:21:3:0:0:21:677:77.67:7.95:69.71:1.00:1.00:1.00:60:41.0:0:0:120:31:26:chr3 g.97806998T>C (intergenic),chr3 g.97806998T>C (intergenic):0.82,0.82:NOT_FOUND,NOT_FOUND 3 97851475 rs4857328 G C 140 nt VT=SNV;PN=T;NN=A;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.3758,C/0.6242;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:83:76:0:0:44,39:1436,1265:139.68,0.00:114.28,0.00:25.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,9.8:0,0:0,0:43,49:107,102:23,28:NM_001005338.1(OR5H1) c.1-u67G>C,-:0.62,-:NOT_FOUND,- 3 97851998 rs9845327 A C 250 lc VT=SNV;PN=T;NN=T;SST=Single;DP=173;DB;DBA=NA;PAF=A/0.3682,C/0.6318;Gene=OR5H1/NM_001005338.1/1;CC=c.457A>C;ProtCh=p.I153L;VC=Missense;DM=OR5H1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:173:91:0:0:93,80:2970,2635:0.00,249.77:0.00,92.59:0.00,157.18:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,59.5:0,0:0,0:95,70:51,81:32,41:-,NM_001005338.1(OR5H1) c.457A>C (p.Ile153Leu):-,0.59:-,0.557099 3 97852083 rs9826076 C T 208 lc VT=SNV;PN=A;NN=T;SST=Single;DP=128;DB;DBA=NA;PAF=C/0.3764,T/0.6236;Gene=OR5H1/NM_001005338.1/1;CC=c.542C>T;ProtCh=p.T181I;VC=Missense;DM=OR5H1/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:128:53:0:0:60,68:1959,2143:0.00,208.28:0.00,67.54:0.00,140.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.9,61.6:0,0:0,0:92,95:59,56:29,36:-,NM_001005338.1(OR5H1) c.542C>T (p.Thr181Ile):-,0.62:-,NOT_FOUND 3 97852484 . T . . NT END=97868229;NT GT ./. 3 97868174 rs4857075 T G 160 nt VT=SNV;PN=T;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=T/0.4121,G/0.5879 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:105:99:0:0:50,55:1672,1699:159.51,0.00:126.41,0.00:33.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,10.8:0,0:0,0:53,38:97,113:26,30:NM_001005514.1(OR5H14) c.1-u56T>G,-:0.58,-:NOT_FOUND,- 3 97868419 rs4241468 G A 161 lc VT=SNV;PN=T;NN=G;SST=Single;DP=151;DB;DBA=NA;PAF=NA;Gene=OR5H14/NM_001005514.1/1;CC=c.190G>A;ProtCh=p.G64R;VC=Missense;DM=OR5H14/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:151:85:0:0:59,91,1:1771,2941,12:161.48,0.00,-0.16:65.86,0.00,-0.13:95.62,0.00,-0.03:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:45.6,6.1,32.0:0,0,0:0,0,0:82,86,39:67,64,108:37,32,0:NM_001005514.1(OR5H14) c.190G>A (p.Gly64Arg),-:0.58,-:0.585038,- 3 97868588 . A G 42 lc VT=SNV;PN=T;NN=T;SST=Single;DP=182;NP=192;PC=1.000;Gene=OR5H14/NM_001005514.1/1;CC=c.359A>G;ProtCh=p.Y120C;VC=Missense;DM=OR5H14/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:155:A,G:182:103:0:0:165,17:5208,579:0.00,41.51:0.00,25.29:0.00,16.22:0.00,1.00:0.00,1.00:0.00,1.00:60,43:17.7,122.4:0,0:0,0:73,28:76,123:37,13:-,NM_001005514.1(OR5H14) c.359A>G (p.Tyr120Cys):-,NOT_FOUND:-,NOT_FOUND 3 97868616 rs4379004 C T 270 lc VT=SNV;PN=C;NN=T;SST=Single;DP=168;DB;DBA=NA;PAF=C/0.368,T/0.632;Gene=OR5H14/NM_001005514.1/1;CC=c.387C>T;ProtCh=p.P129=;VC=Silent;DM=OR5H14/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:168:100:0:0:82,86:2676,2800:0.00,270.41:0.00,119.29:0.00,151.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.7,56.0:0,0:0,0:74,78:73,71:34,29:-,NM_001005514.1(OR5H14) c.387C>T (p.(=)):-,0.59:-,0.572057 3 97868656 rs146577101 C T 56 lc VT=SNV;PN=C;NN=G;SST=Single;DP=157;DB;DBA=NA;PAF=NA;Gene=OR5H14/NM_001005514.1/1;CC=c.427C>T;ProtCh=p.R143W;VC=Missense;DM=OR5H14/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:157:86:0:0:136,21:4121,732:0.00,56.41:0.00,32.85:0.00,23.56:0.00,1.00:0.00,1.00:0.00,1.00:60,43:18.8,113.4:0,0:0,0:90,91:55,57:33,17:-,NM_001005514.1(OR5H14) c.427C>T (p.Arg143Trp):-,NOT_FOUND:-,0.020766 3 97868795 rs4857076 A G 135 lc VT=SNV;PN=T;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=A/0.3684,G/0.6316;PC=1.000;Gene=OR5H14/NM_001005514.1/1;CC=c.566A>G;ProtCh=p.Y189C;VC=Missense;DM=OR5H14/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:104:52:0:0:61,43:1936,1452:0.00,135.10:0.00,66.81:0.00,68.29:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,43.7:0,0:0,0:90,67:50,83:33,29:-,NM_001005514.1(OR5H14) c.566A>G (p.Tyr189Cys):-,0.61:-,0.632446 3 97868970 rs12639519 T A 94 lc VT=SNV;PN=C;NN=G;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.4135,A/0.5865;PC=0.003;Gene=OR5H14/NM_001005514.1/1;CC=c.741T>A;ProtCh=p.S247=;VC=Silent;DM=OR5H14/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:64:38:0:0:30,34:987,1094:93.78,0.00:42.73,0.00:51.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.2,4.7:0,0:0,0:79,63:67,85:36,37:NM_001005514.1(OR5H14) c.741T>A (p.(=)),-:0.56,-:NOT_FOUND,- 3 97869163 . A . . NT END=97887543;NT GT ./. 3 97887495 rs10212222 C G 169 nt VT=SNV;PN=T;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=C/0.3584,G/0.6416 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:100:92:0:0:47,53:1461,1733:0.00,168.51:0.00,130.18:0.00,38.34:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.3,40.1:0,0:0,0:56,44:93,106:42,24:-,NM_001005515.1(OR5H15) c.1-u49C>G:-,0.63:-,0.627845 3 97887865 rs4133320 G A 282 lc VT=SNV;PN=C;NN=T;SST=Single;DP=171;DB;DBA=NA;PAF=G/0.4089,A/0.5911;Gene=OR5H15/NM_001005515.1/1;CC=c.322G>A;ProtCh=p.V108I;VC=Missense;DM=OR5H15/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:171:106:0:0:91,80:2901,2513:282.17,0.00:111.85,0.00:170.31,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.7,4.7:0,0:0,0:55,52:95,97:33,33:NM_001005515.1(OR5H15) c.322G>A (p.Val108Ile),-:0.58,-:0.592524,- 3 97887985 rs4133321 T A 227 lc VT=SNV;PN=G;NN=C;SST=Single;DP=167;DB;DBA=NA;PAF=T/0.4333,A/0.5667;Gene=OR5H15/NM_001005515.1/1;CC=c.442T>A;ProtCh=p.S148T;VC=Missense;DM=OR5H15/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:167:88:0:0:77,1,89:2397,13,2850:226.61,-0.11,0.00:86.81,-0.10,0.00:139.80,-0.01,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,59,60:65.5,25.0,4.1:0,0,0:0,0,0:87,122,83:64,26,66:39,0,33:NM_001005515.1(OR5H15) c.442T>A (p.Ser148Thr),-:0.57,-:0.566538,- 3 97888042 rs4133322 A T 185 lc VT=SNV;PN=A;NN=C;SST=Single;DP=134;DB;DBA=NA;PAF=A/0.4333,C/.,T/0.5667;Gene=OR5H15/NM_001005515.1/1;CC=c.499A>T;ProtCh=p.T167S;VC=Missense;DM=OR5H15/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:134:61:0:0:72,62:2163,1952:0.00,184.57:0.00,79.47:0.00,105.10:0.00,1.00:0.00,1.00:0.00,1.00:60,52:5.1,63.5:0,0:0,0:98,89:53,61:34,32:-,NM_001005515.1(OR5H15) c.499A>T (p.Thr167Ser):-,0.57:-,0.565234 3 97888197 rs7623031 C T 130 lc VT=SNV;PN=A;NN=A;SST=Single;DP=85;DB;DBA=NA;PAF=C/0.3734,T/0.6266;Gene=OR5H15/NM_001005515.1/1;CC=c.654C>T;ProtCh=p.Y218=;VC=Silent;DM=OR5H15/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:85:45:0:0:43,42:1438,1351:0.00,129.56:0.00,57.60:0.00,71.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.2,51.7:0,0:0,0:70,77:70,70:36,39:-,NM_001005515.1(OR5H15) c.654C>T (p.(=)):-,0.62:-,0.630478 3 97888486 . T . . NT END=97983128;NT GT ./. 3 97915998 rs34749796 AT A 138 nt VT=DEL;SST=Single;DP=69;DB;DBA=NA;PAF=AT/0.4081,A/0.5919;NP=2433;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,T,A:69:68:0:44:24,1,44:740,12,1364:0.00,0.06,138.25:0.00,0.08,128.73:0.00,-0.02,9.52:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.0,47.0,60.2:2,0,0:0,0,0:60,17,44:90,134,103:32,0,28:-,chr3 g.97915999delT (intergenic):-,0.57:-,NOT_FOUND 3 97916050 rs11706357 A C 172 nt VT=SNV;PN=G;NN=G;SST=Single;DP=87;DB;DBA=NA;PAF=A/0.4081,C/0.5919 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:87:81:0:0:31,55,1:1053,1700,9:0.00,171.67,-0.06:0.00,132.14,-0.02:0.00,39.54,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,56:4.7,66.8,50.0:0,0,0:0,0,0:41,70,31:97,77,119:24,25,0:-,chr3 g.97916049A>C (intergenic):-,0.58:-,NOT_FOUND 3 97916064 rs11706390 A G 185 nt VT=SNV;PN=G;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=A/0.3982,G/0.6018 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:89:79:0:0:31,57,1:1009,1825,11:0.00,184.84,-0.01:0.00,125.98,0.04:0.00,58.86,-0.05:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:5.0,65.4,99.0:0,0,0:0,0,0:71,70,130:79,80,20:32,28,0:-,chr3 g.97916063A>G (intergenic):-,0.59:-,NOT_FOUND 3 97916199 rs35393131 G A 125 nt VT=SNV;PN=C;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=G/0.4081,A/0.5919;NP=1;NP=946;PC=0.014 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:64:22:0:0:39,25:1249,754:124.92,0.00:35.82,0.00:89.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:127.3,12.2:0,0:0,0:77,77:74,73:26,36:chr3 g.97916198G>A (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 97916201 rs76421220 A C 117 nt VT=SNV;PN=T;NN=T;SST=Single;DP=63;DB;DBA=NA;PAF=A/0.4081,C/0.5919,G/.;NP=1183 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:63:22:0:0:25,38:776,1176:0.00,117.28:0.00,33.23:0.00,84.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,127.0:0,0:0,0:79,82:71,68:36,25:-,chr3 g.97916200A>C (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 97916202 rs76624687 T C 112 nt VT=SNV;PN=A;NN=G;SST=Single;DP=63;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.4085,C/0.5915;NP=1150 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:63:22:0:0:1,37,25:11,1129,762:0.01,112.42,0.00:0.14,31.18,0.00:-0.12,81.24,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:197.0,127.2,12.2:0,0,0:0,0,0:50,80,80:101,71,70:0,23,36:chr3 g.97916201T>C (intergenic),-:NOT_FOUND,-:NOT_FOUND,- 3 97916231 rs6765411 A G 123 nt VT=SNV;PN=T;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=A/0.4081,G/0.5919;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:64:25:0:0:27,37:778,1245:0.00,123.30:0.00,37.66:0.00,85.63:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.1,121.3:0,0:0,0:87,87:63,61:44,28:-,chr3 g.97916230A>G (intergenic):-,0.59:-,NOT_FOUND 3 97916375 rs6765598 A G 137 nt VT=SNV;PN=T;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.4089,G/0.5911 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:56:0:0:36,44:1131,1404:0.00,137.40:0.00,67.81:0.00,69.60:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.0,99.2:0,0:0,0:39,61:111,86:25,29:-,chr3 g.97916374A>G (intergenic):-,0.58:-,NOT_FOUND 3 97916387 rs6768197 T C 150 nt VT=SNV;PN=G;NN=T;SST=Single;DP=81;DB;DBA=NA;PAF=T/0.4089,C/0.5911 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:81:56:0:0:1,45,35:10,1522,1071:-0.07,149.88,0.00:-0.00,74.06,0.00:-0.06,75.83,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:30.0,102.4,8.1:0,0,0:0,0,0:60,64,46:87,87,104:0,26,23:chr3 g.97916386T>C (intergenic),-:0.58,-:NOT_FOUND,- 3 97916391 rs6765605 A C 156 nt VT=SNV;PN=T;NN=T;SST=Single;DP=86;DB;DBA=NA;PAF=A/0.4073,C/0.5927 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:86:59:0:0:38,48:1164,1592:0.00,156.48:0.00,77.60:0.00,78.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.1,100.5:0,0:0,0:49,66:100,84:23,31:-,chr3 g.97916390A>C (intergenic):-,0.59:-,NOT_FOUND 3 97916541 rs201880800 T TAC 71 nt VT=INS;SST=Single;DP=46;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2439;PC=0.001;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:T,TAC:46:4:23:0:23,23:715,742:0.00,71.36:0.00,0.63:0.00,70.72:0.00,1.00:0.00,0.51:0.00,1.00:60,60:5.5,17.0:0,0:0,0:96,95:54,55:40,39:-,chr3 g.97916541_97916542insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 97916615 rs6776813 G A 42 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.4081,A/0.5919;PC=0.990 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:2:0:0:14,15:439,511:41.81,0.00:3.07,0.00:38.74,0.00:1.00,0.00:0.78,0.00:1.00,0.00:60,60:36.4,2.9:0,0:0,0:105,92:45,59:19,25:chr3 g.97916614G>A (intergenic),-:0.59,-:NOT_FOUND,- 3 97916734 rs6765940 A G 24 nt VT=SNV;PN=G;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4081,G/0.5919 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:8:0:0:8,8:241,252:0.00,24.21:0.00,16.96:0.00,7.25:0.00,1.00:0.00,0.87:0.00,1.00:60,60:10.8,105.0:0,0:0,0:56,60:94,91:41,48:-,chr3 g.97916733A>G (intergenic):-,0.59:-,NOT_FOUND 3 97916782 rs6766035 A C 27 nt VT=SNV;PN=T;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4081,C/0.5919 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:16:10:0:0:8,8:242,277:0.00,26.70:0.00,18.76:0.00,7.94:0.00,1.00:0.00,0.95:0.00,0.99:60,60:12.1,122.0:0,0:0,0:66,53:84,97:32,19:-,chr3 g.97916781A>C (intergenic):-,0.59:-,NOT_FOUND 3 97916787 rs74684171 A G 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.4081,G/0.5919 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:16:10:0:0:8,8:258,268:0.00,25.80:0.00,17.86:0.00,7.94:0.00,1.00:0.00,0.95:0.00,0.99:60,60:12.1,121.8:0,0:0,0:71,58:79,92:32,14:-,chr3 g.97916786A>G (intergenic):-,0.51:-,NOT_FOUND 3 97916788 rs6802178 C T 24 nt VT=SNV;PN=A;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4081,T/0.5919 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:10:0:0:8,8:268,250:0.00,24.00:0.00,16.26:0.00,7.74:0.00,1.00:0.00,0.95:0.00,0.99:60,60:12.1,122.0:0,0:0,0:72,59:78,91:32,19:-,chr3 g.97916787C>T (intergenic):-,0.51:-,NOT_FOUND 3 97926079 rs5851109 AT A 26 rn VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=578;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:AT,A:23:23:0:10:13,10:436,280:0.00,25.92:0.00,25.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:17.1,22.7:0,0:0,0:58,49:93,101:22,23:-,chr3 g.97926080delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 97926221 rs7430016 T C 154 nt VT=SNV;PN=T;NN=C;SST=Single;DP=103;DB;DBA=NA;PAF=T/0.372,C/0.628 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:103:96:0:0:1,48,54:9,1622,1731:-0.16,154.49,0.00:-0.19,116.42,0.00:0.03,38.06,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:17,60,60:19.0,47.5,5.7:0,0,0:0,0,0:46,56,46:105,93,100:0,31,34:chr3 g.97926220T>C (intergenic),-:0.61,-:NOT_FOUND,- 3 97926354 rs9837299 A G 199 nt VT=SNV;PN=G;NN=C;SST=Single;DP=156;DB;DBA=NA;PAF=A/0.382,G/0.618 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:156:101:0:0:87,69:2668,2123:0.00,198.57:0.00,93.93:0.00,104.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.1,43.0:0,0:0,0:84,89:67,62:33,40:-,chr3 g.97926353A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 97926625 rs9837684 A G 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.7526,G/0.2474;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:57:0:0:62,21:1919,604:0.00,50.05:0.00,20.80:0.00,29.25:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.1,51.8:0,0:0,0:55,111:90,40:26,29:-,chr3 g.97926624A>G (intergenic):-,0.24:-,NOT_FOUND 3 97926693 rs9818544 C T 35 idl,nt VT=SNV;PN=C;NN=G;SST=Single;DP=73;DB;DBA=NA;PAF=C/0.7528,T/0.2472 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:73:46:0:0:60,13:1819,438:0.00,35.16:0.00,16.69:0.00,18.47:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,58.5:0,6:0,0:96,127:51,8:28,16:-,chr3 g.97926692C>T (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 97941080 rs1846078 C T 21 nt VT=SNV;PN=C;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3764,T/0.6236;PC=0.834 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:17:0:0:15,7:455,240:0.00,21.37:0.00,12.19:0.00,9.18:0.00,0.97:0.00,0.99:0.00,0.98:60,60:8.1,72.0:0,0:0,0:56,22:79,109:40,7:-,chr3 g.97941079C>T (intergenic):-,0.62:-,NOT_FOUND 3 97941104 rs13063850 A G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.742,G/0.258 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:22:15:0:0:15,7:444,223:0.00,19.67:0.00,8.48:0.00,11.18:0.00,0.97:0.00,0.99:0.00,0.99:60,60:6.7,72.3:0,0:0,0:82,46:58,85:33,7:-,chr3 g.97941103A>G (intergenic):-,0.26:-,NOT_FOUND 3 97957115 rs13100993 T C 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.3754,C/0.6246 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:32:31:0:0:13,19:447,576:41.52,0.00:41.86,0.00:-0.34,0.00:1.00,0.00:1.00,0.00:0.71,0.00:60,60:39.0,7.9:0,0:0,0:19,14:132,136:14,11:chr3 g.97957114T>C (intergenic),-:0.62,-:NOT_FOUND,- 3 97957349 rs6439722 G A 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.4265,A/0.5735 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:59:27:0:0:27,32:742,1037:69.31,0.00:23.71,0.00:45.60,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.1,9.7:0,0:0,0:117,81:34,69:25,47:chr3 g.97957348G>A (intergenic),-:0.58,-:NOT_FOUND,- 3 97957490 rs6439724 G A 52 nt VT=SNV;PN=G;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.6685,A/0.3315 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:24:0:0:18,25:563,761:52.17,0.00:15.90,0.00:36.26,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.1,7.8:0,0:0,0:87,49:58,100:25,43:chr3 g.97957489G>A (intergenic),-:0.33,-:NOT_FOUND,- 3 97957539 rs6439725 C T 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.372,T/0.628;PC=0.544 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:23:0:0:24,18:708,566:0.00,52.75:0.00,26.53:0.00,26.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,65.4:0,0:0,0:68,89:81,61:30,42:-,chr3 g.97957538C>T (intergenic):-,0.62:-,NOT_FOUND 3 97958054 rs9851509 T C 69 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.4062,C/0.5938;PC=0.995 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:26:0:0:22,23:717,701:68.65,0.00:25.64,0.00:43.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.0,14.4:0,0:0,0:94,57:56,94:13,35:chr3 g.97958053T>C (intergenic),-:0.55,-:NOT_FOUND,- 3 97958280 rs9828347 C T 9 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7504,T/0.2496 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:93:C,T:7:0:0:0:4,3:134,92:0.00,8.55:0.00,0.00:0.00,8.55:0.00,0.69:0.00,0.00:0.00,0.69:60,60:12.5,71.7:0,0:0,0:107,110:43,41:10,18:-,chr3 g.97958279C>T (intergenic):-,0.25:-,NOT_FOUND 3 97983257 rs2132894 C G 162 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=101;DB;DBA=NA;PAF=C/0.2911,G/0.7089;PC=0.003;Gene=OR5H6/NM_001005479.1/1;CC=c.129C>G;ProtCh=p.L43=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:101:59:0:0:50,50,1:1686,1681,8:0.00,161.82,-0.16:0.00,72.41,-0.03:0.00,89.42,-0.13:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:13.4,41.1,94.0:0,0,0:0,0,0:87,86,100:62,64,51:27,22,0:-,NM_001005479.1(OR5H6) c.129C>G (p.(=)):-,0.72:-,0.740926 3 97983391 rs2173236 C T 122 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=81;DB;DBA=NA;PAF=NA;Gene=OR5H6/NM_001005479.1/1;CC=c.263C>T;ProtCh=p.S88L;VC=Missense;DM=OR5H6/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:81:46:0:0:41,1,39:1247,27,1274:0.00,1.06,121.98:0.00,-0.11,48.63:0.00,1.17,73.34:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.4,62.0,42.9:0,0,0:0,0,0:71,147,74:79,3,76:39,0,40:-,NM_001005479.1(OR5H6) c.263C>T (p.Ser88Leu):-,NOT_FOUND:-,0.642088 3 97983487 rs74203917 TTGTAACCAC T 94 PASS VT=DEL;SST=Single;DP=86;DB;DBA=NA;PAF=TTGTAACCAC/0.6829,T/0.3171;DB;DBA=NA;PAF=TTGTAACCAC/0.6829,T/0.3171;NP=2480;Gene=OR5H6/NM_001005479.1/1;CC=c.369_377delTGTAACCAC;ProtCh=p.V124_T126del;VC=InFrameDel;DM=OR5H6/7tm_4;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TTGTAACCAC,T:86:50:0:35:1,51,34:5,1642,1032:-0.24,0.00,94.48:-0.10,0.00,45.94:-0.14,0.00,48.54:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:80.0,22.7,34.3:0,0,0:0,0,0:27,82,73:124,65,75:0,33,31:-,NM_001005479.1(OR5H6) c.360TGTAACCAC[1] (p.Val121_Thr123[1]):-,0.33:-,0.432387 3 97983561 rs9289564 G C 95 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=68;DB;DBA=NA;PAF=NA;PC=0.927;Gene=OR5H6/NM_001005479.1/1;CC=c.433G>C;ProtCh=p.A145P;VC=Missense;DM=OR5H6/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:68:37:0:0:31,37:1010,1175:95.47,0.00:44.70,0.00:50.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.5,14.7:0,0:0,0:84,101:67,50:36,29:NM_001005479.1(OR5H6) c.433G>C (p.Ala145Pro),-:0.71,-:0.738886,- 3 97983711 rs9853887 T C 61 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=53;DB;DBA=NA;PAF=T/0.375,C/0.625;PC=1.000;Gene=OR5H6/NM_001005479.1/1;CC=c.583T>C;ProtCh=p.C195R;VC=Missense;DM=OR5H6/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:53:27:0:0:23,30:662,963:61.36,0.00:30.76,0.00:30.59,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.4,13.8:0,0:0,0:52,99:92,46:28,21:NM_001005479.1(OR5H6) c.583T>C (p.Cys195Arg),-:0.64,-:0.662665,- 3 97983942 rs9853906 A G 69 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=A/0.3367,G/0.6633;Gene=OR5H6/NM_001005479.1/1;CC=c.814A>G;ProtCh=p.T272A;VC=Missense;DM=OR5H6/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:58:43:0:0:34,24:1055,743:0.00,68.61:0.00,42.19:0.00,26.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,61.5:0,0:0,0:73,86:77,65:27,33:-,NM_001005479.1(OR5H6) c.814A>G (p.Thr272Ala):-,0.68:-,0.690557 3 97983981 rs9871143 G A 67 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=59;DB;DBA=NA;PAF=G/0.6819,A/0.3181;Gene=OR5H6/NM_001005479.1/1;CC=c.853G>A;ProtCh=p.D285N;VC=Missense;DM=OR5H6/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:59:44:0:0:24,34,1:725,1169,13:66.79,0.00,0.04:38.12,0.00,-0.14:28.68,0.00,0.18:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:59.1,3.6,108.0:0,0,0:0,0,0:82,87,150:68,62,1:37,35,0:NM_001005479.1(OR5H6) c.853G>A (p.Asp285Asn),-:0.33,-:0.451861,- 3 97984107 . A . . NT END=98001731;NT GT ./. 3 97984280 rs17195192 C T 18 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.602,T/0.398 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:C,T:13:0:0:0:7,6:195,188:0.00,17.77:0.00,0.00:0.00,17.77:0.00,0.97:0.00,0.00:0.00,0.97:60,60:6.6,37.8:0,0:0,0:111,92:40,58:13,40:-,chr3 g.97984279C>T (intergenic):-,0.41:-,NOT_FOUND 3 98001676 rs16839610 T C 46 nt VT=SNV;PN=T;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.9012,C/0.09884 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:27:27:0:0:15,12:472,318:46.35,0.00:42.53,0.00:3.82,0.00:1.00,0.00:1.00,0.00:0.84,0.00:60,60:57.3,14.9:0,0:0,0:64,45:86,106:30,20:NM_001005482.1(OR5H2) c.1-u56T>C,-:0.1,-:NOT_FOUND,- 3 98001777 rs72487753 G C 88 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.8363,C/0.1637,T/.;PC=0.005;Gene=OR5H2/NM_001005482.1/1;CC=c.46G>C;ProtCh=p.E16Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:61:47:0:0:27,32,2:925,989,18:87.74,0.00,-0.02:38.82,0.00,0.09:48.93,0.00,-0.11:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:48.9,13.7,113.5:0,0,0:0,0,0:70,70,101:74,74,29:13,23,27:NM_001005482.1(OR5H2) c.46G>C (p.Glu16Gln),-:0.16,-:0.130709,- 3 98002419 rs16839214 A G 93 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=A/0.8365,G/0.1635;Gene=OR5H2/NM_001005482.1/1;CC=c.688A>G;ProtCh=p.I230V;VC=Missense;DM=OR5H2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:77:54:0:0:44,1,32:1366,13,1001:0.00,-0.01,92.91:0.00,0.10,50.60:0.00,-0.11,42.31:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:10.1,30.0,38.8:0,0,0:0,0,0:95,149,101:55,2,47:31,0,27:-,NM_001005482.1(OR5H2) c.688A>G (p.Ile230Val):-,0.16:-,0.130786 3 98002587 rs16839611 A G 63 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=53;DB;DBA=NA;PAF=A/0.4914,G/0.5086;PC=0.002;Gene=OR5H2/NM_001005482.1/1;CC=c.856A>G;ProtCh=p.I286V;VC=Missense;DM=OR5H2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:53:22:0:0:32,21:1084,684:0.00,62.96:0.00,14.68:0.00,48.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.8,33.5:0,0:0,0:86,89:64,60:29,50:-,NM_001005482.1(OR5H2) c.856A>G (p.Ile286Val):-,0.5:-,0.368368 3 98002677 . A . . NT END=98072697;NT GT ./. 3 98030625 rs1472416 G A 10 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.5284,A/0.4716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:29:A,G:4:4:0:0:3,1:96,35:10.05,0.00:10.05,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:44.0,0.0:0,0:0,0:30,14:121,136:6,0:chr3 g.98030624G>A (intergenic),-:0.47,-:NOT_FOUND,- 3 98031539 rs2316268 A G 8 nt VT=SNV;PN=C;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5284,G/0.4716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:A,G:4:3:0:0:1,3:35,79:0.00,8.32:0.00,5.23:0.00,3.10:0.00,0.85:0.00,0.99:0.00,0.99:60,60:0.0,47.3:0,0:0,0:94,47:35,101:0,25:-,chr3 g.98031538A>G (intergenic):-,0.47:-,NOT_FOUND 3 98073591 rs398102322 TA T 122 rn VT=DEL;SST=Single;DP=63;DB;DBA=NA;PAF=TA/0.6639,T/0.3361;DB;DBA=NA;PAF=TA/0.6639,T/0.3361;NP=2581;PC=0.028;Gene=OR5K4/NM_001005517.1/1;CC=c.901delA;ProtCh=p.I301Lfs*2;VC=FrameShiftDel;DM=OR5K4/7tm_4;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,TA,T:63:37:0:38:1,24,38:14,784,1218:0.16,0.00,121.95:-0.07,0.00,52.06:0.23,0.00,69.89:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:125.0,3.3,7.8:0,0,0:0,0,0:11,103,66:140,47,83:0,26,40:-,NM_001005517.1(OR5K4) c.895A[6] (p.Ile301Leufs*2):-,0.35:-,NOT_FOUND 3 98073664 . a . . NT END=98109509;NT GT ./. 3 98110406 rs145803525 G GA 86 rn VT=INS;SST=Single;DP=65;DB;DBA=NA;PAF=G/0.6709,GA/0.3291;DB;DBA=NA;PAF=G/0.6709,GA/0.3291;NP=2424;Gene=OR5K3/NM_001005516.1/1;CC=c.904dupA;ProtCh=p.I302Nfs*44;VC=FrameShiftIns;DM=OR5K3/7tm_4;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GA:65:26:30:0:35,30:1140,910:0.00,85.83:0.00,25.11:0.00,60.72:0.00,1.00:0.00,1.00:0.00,1.00:60,60:16.1,16.2:0,0:0,0:81,45:69,100:38,23:-,NM_001005516.1(OR5K3) c.904dupA (p.Ile302Asnfs*?):-,0.35:-,NOT_FOUND 3 98110476 . T . . NT END=98188420;NT GT ./. 3 98189348 . T . . NT END=98216524;NT GT ./. 3 98217394 rs146517377 T C 53 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=4;PC=0.955;Gene=OR5K2/NM_001004737.1/1;CC=c.870T>C;ProtCh=p.Y290=;VC=Silent;DM=OR5K2/7tm_4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:45:25:0:0:17,28:581,886:53.28,0.00:10.89,0.00:42.39,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.4,5.8:0,0:0,0:101,84:46,64:23,28:NM_001004737.1(OR5K2) c.870T>C (p.(=)),-:0.0005,-:0.000618,- 3 98217476 . C . . NT END=98223363;NT GT ./. 3 98223389 . c . . NT END=98234316;NT GT ./. 3 98235724 . C . . NT END=98235895;NT GT ./. 3 98236034 . C . . NT END=98237728;NT GT ./. 3 98237840 . C . . NT END=98239976;NT GT ./. 3 98240287 . C . . NT END=98240496;NT GT ./. 3 98240563 . C . . NT END=98241385;NT GT ./. 3 98241831 . g . . NT END=98250877;NT GT ./. 3 98251961 . A . . NT END=98297068;NT GT ./. 3 98252220 rs1881672 C T 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2598,T/0.7402 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:231:26.44:0.00:26.44:1.00:0.00:1.00:60:53.7:0:0:90:61:15:chr3 g.98252219C>T (intergenic),chr3 g.98252219C>T (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 3 98297115 . C . . NT END=98298289;NT GT ./. 3 98297295 rs2141494 A C 30 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.6562,C/0.3438 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:C:9:0:0:0:9:255:29.78:0.00:29.78:1.00:0.00:1.00:60:34.1:0:0:128:22:21:chr3 g.98297294A>C (intergenic),chr3 g.98297294A>C (intergenic):0.35,0.35:NOT_FOUND,NOT_FOUND 3 98298078 rs1617775 C T 19 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.2556,T/0.7444;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:5:0:0:5:163:18.68:18.68:0.00:1.00:1.00:0.00:60:55.0:0:0:71:79:28:chr3 g.98298077C>T (intergenic),chr3 g.98298077C>T (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 3 98298247 rs1616167 C T 96 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.6883,T/0.3117 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:T:27:25:0:0:27:833:96.12:80.32:15.81:1.00:1.00:1.00:60:36.7:0:0:39:110:31:chr3 g.98298246C>T (intergenic),chr3 g.98298246C>T (intergenic):0.33,0.33:NOT_FOUND,NOT_FOUND 3 98298455 rs148251059 G A 49 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=42;DB;DBA=NA;PAF=G/0.9982,A/0.001797;NP=26;Gene=CPOX/NM_000097.5/1;CC=c.*1072C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:42:22:0:0:17,25:527,786:48.50,0.00:25.95,0.00:22.55,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,8.2:0,0:0,0:51,72:99,79:33,41:NM_000097.5(CPOX) c.*1072C>T,-:0.0023,-:NOT_FOUND,- 3 98298948 rs62276429 T TTAAGAA 198 PASS VT=INS;SST=Single;DP=65;DB;DBA=NA;PAF=T/0.2758,TTAAGAA/0.7242;DB;DBA=NA;PAF=NA;NP=20;NP=6;PC=0.005;Gene=CPOX/NM_000097.5/1;CC=c.*578_*579insTTCTTA;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:T,TTAAGAA:65:38:57:0:8,57:256,1815:0.00,198.14:0.00,93.09:0.00,105.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,4.1:0,0:0,0:139,83:3,68:1,36:-,NM_000097.5(CPOX) c.*578_*579insTTCTTA:-,NOT_FOUND:-,NOT_FOUND 3 98299615 . C . . NT END=98300250;NT GT ./. 3 98299707 rs374091299 TA T 19 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;NP=8;PC=0.002;Gene=CPOX/NM_000097.5/1;CC=c.1278-94delT;VC=Intron;DM=CPOX/Coprogen_oxidas;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:181:A,TA,I,T:41:12:1:12:1,31,1,8:10,903,30,361:-0.10,0.00,1.53,19.10:-0.05,0.00,0.86,2.75:-0.05,0.00,0.66,16.34:0.00,0.00,0.00,0.97:0.00,0.00,0.00,0.85:0.00,0.00,0.00,1.00:60,60,60,60:95.0,16.2,31.0,61.5:0,0,0,4:0,0,0,0:69,95,123,117:82,49,28,30:0,28,0,12:-,NM_000097.5(CPOX) c.1278-94delT:-,NOT_FOUND:-,NOT_FOUND 3 98300356 . C . . NT END=98304284;NT GT ./. 3 98304467 rs1729995 T C 290 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.246,C/0.754;PC=1.000;Gene=CPOX/NM_000097.5/1;CC=c.990A>G;ProtCh=p.E330=;VC=Silent;DM=CPOX/Coprogen_oxidas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:77:38:0:0:77:2531:289.67:92.64:197.03:1.00:1.00:1.00:60:39.4:0:0:88:63:34:NM_000097.5(CPOX) c.990A>G (p.(=)),NM_000097.5(CPOX) c.990A>G (p.(=)):0.76,0.76:0.743887,0.743887 3 98304504 . C . . NT END=98307556;NT GT ./. 3 98304785 rs76793447 T C 13 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.2636,C/0.7364;NP=509;PC=0.001;Gene=CPOX/NM_000097.5/1;CC=c.954-282A>G;VC=Intron;DM=CPOX/Coprogen_oxidas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:1:0:0:4:115:13.40:2.57:10.83:1.00:1.00:1.00:60:100.8:0:0:94:55:35:NM_000097.5(CPOX) c.954-282A>G,NM_000097.5(CPOX) c.954-282A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 98304787 rs75448252 A G 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2636,G/0.7364;NP=500;Gene=CPOX/NM_000097.5/1;CC=c.954-284T>C;VC=Intron;DM=CPOX/Coprogen_oxidas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:124:14.30:2.27:12.03:1.00:1.00:1.00:60:100.8:0:0:96:53:35:NM_000097.5(CPOX) c.954-284T>C,NM_000097.5(CPOX) c.954-284T>C:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 98304788 rs78478767 A C 13 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2636,C/0.7364;NP=521;PC=0.004;Gene=CPOX/NM_000097.5/1;CC=c.954-285T>G;VC=Intron;DM=CPOX/Coprogen_oxidas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:C:4:1:0:0:4:110:12.86:1.43:11.43:1.00:1.00:1.00:60:100.8:0:0:97:52:35:NM_000097.5(CPOX) c.954-285T>G,NM_000097.5(CPOX) c.954-285T>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 98307699 . C . . NT END=98309475;NT GT ./. 3 98309587 . C . . NT END=98309855;NT GT ./. 3 98310000 . C . . NT END=98311792;NT GT ./. 3 98310190 rs1729978 A G 35 nt VT=SNV;PN=T;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.2356,G/0.7644;Gene=CPOX/NM_000097.5/1;CC=c.557-191T>C;VC=Intron;DM=CPOX/Coprogen_oxidas GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G,T:12:0:0:0:11,1:306,11:35.39,0.58:0.00,0.00:35.39,0.58:1.00,0.00:0.00,0.00:1.00,0.00:60,60:65.5,102.0:0,0:0,0:86,132:51,19:29,0:NM_000097.5(CPOX) c.557-191T>C,NM_000097.5(CPOX) c.557-191T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 3 98312349 . G . . NT END=98451707;NT GT ./. 3 98312581 rs4857406 G C 40 nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.5923,C/0.4077,T/.;PC=0.611 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:1:0:0:12:341:39.76:2.04:37.72:1.00:1.00:1.00:60:48.4:0:0:84:67:26:NM_000097.5(CPOX) c.-107-u126C>G,NM_000097.5(CPOX) c.-107-u126C>G:0.43,0.43:NOT_FOUND,NOT_FOUND 3 98400796 rs57772027 T TTGTGTGTG 11 sb,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=13;NP=9;PC=0.073;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TTGTGTGTG:4:2:3:0:1,3:33,101:0.00,10.55:0.00,1.27:0.00,9.28:0.00,0.85:0.00,0.95:0.00,0.99:60,60:0.0,35.3:0,0:0,0:109,77:36,74:0,13:-,chr3 g.98400796_98400797insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 98400865 rs60787986 C A 14 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2334,A/0.7666;PC=0.126 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:125:14.41:0.00:14.41:1.00:0.00:1.00:60:37.5:0:0:74:57:43:chr3 g.98400864C>A (intergenic),chr3 g.98400864C>A (intergenic):0.76,0.76:NOT_FOUND,NOT_FOUND 3 98451856 . G . . NT END=98452184;NT GT ./. 3 98452436 . G . . NT END=98475212;NT GT ./. 3 98475385 . G . . NT END=98481527;NT GT ./. 3 98482284 . g . . NT END=98487273;NT GT ./. 3 98487121 rs58351280 TAGTG T 18 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TAGTG/0.6266,T/0.3734;DB;DBA=NA;PAF=TAGTG/0.6266,T/0.3734;NP=858;Gene=ST3GAL6/NM_001271142.1/1;CC=c.-339-149_-339-146delGAGT;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.-11-149_-11-146delGAGT;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.-339-149_-339-146delGAGT;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-201-4532_-201-4529delGAGT;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.149-149_149-146delGAGT;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.-11-149_-11-146delGAGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:TAGTG,T:14:14:0:6:8,6:177,190:0.00,17.75:0.00,17.75:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,70:20.6,1.7:0,0:0,0:63,29:85,122:21,18:-,NM_001271145.1(ST3GAL6) c.149-152_149-149delAGTG:-,0.32:-,NOT_FOUND 3 98487375 . T . . NT END=98489722;NT GT ./. 3 98489686 rs1440153 A G 60 nt VT=SNV;PN=G;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.6563,G/0.3437;Gene=ST3GAL6/NM_001271142.1/1;CC=c.-239-37A>G;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.90-37A>G;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.-239-37A>G;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-201-1971A>G;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.249-37A>G;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.90-37A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:35:0:0:20,20:643,625:0.00,60.01:0.00,44.23:0.00,15.77:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.4,33.4:0,0:0,0:68,63:81,88:24,39:-,NM_001271145.1(ST3GAL6) c.249-37A>G:-,0.33:-,0.417115 3 98489802 . T . . NT END=98489964;NT GT ./. 3 98489915 rs1440152 C G 87 nt VT=SNV;PN=C;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=C/0.6621,A/.,G/0.3379;Gene=ST3GAL6/NM_001271142.1/1;CC=c.-161-50C>G;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.167+115C>G;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.-161-50C>G;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-201-1742C>G;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.326+115C>G;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.167+115C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:47:21:0:0:19,28:585,879:0.00,87.38:0.00,38.30:0.00,49.08:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.1,36.7:0,0:0,0:94,63:57,84:37,45:-,NM_001271145.1(ST3GAL6) c.326+115C>G:-,0.32:-,NOT_FOUND 3 98490035 . G . . NT END=98491656;NT GT ./. 3 98490141 rs844160 A T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3822,T/0.6178;Gene=ST3GAL6/NM_001271142.1/1;CC=c.-92+107A>T;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.167+341A>T;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.-92+107A>T;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-201-1516A>T;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.326+341A>T;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.167+341A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:14:0:0:0:7,7:213,233:0.00,22.43:0.00,0.00:0.00,22.43:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.0,34.9:0,0:0,0:124,111:27,40:20,23:-,NM_001271145.1(ST3GAL6) c.326+341A>T:-,0.64:-,NOT_FOUND 3 98491619 rs2334230 G T 83 nt VT=SNV;PN=A;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.6675,A/.,C/.,T/0.3325;Gene=ST3GAL6/NM_001271142.1/1;CC=c.-91-38G>T;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.168-38G>T;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.-91-38G>T;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-201-38G>T;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.327-38G>T;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.168-38G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:34:31:0:0:10,24:313,800:0.00,82.53:0.00,57.53:0.00,25.00:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.3,36.1:0,0:0,0:68,35:82,109:42,27:-,NM_001271145.1(ST3GAL6) c.327-38G>T:-,0.32:-,0.423958 3 98491762 . T . . NT END=98492763;NT GT ./. 3 98492829 . T . . NT END=98502354;NT GT ./. 3 98502584 . G . . NT END=98503788;NT GT ./. 3 98502628 rs3772102 T G 36 nt VT=SNV;PN=A;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.6434,G/0.3566;Gene=ST3GAL6/NM_001271142.1/1;CC=c.78-1161T>G;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.336-1161T>G;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.78-4252T>G;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-97-1161T>G;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.495-1161T>G;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.336-1161T>G;VC=Intron;DM=ST3GAL6/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:41:4:0:0:14,27:404,827:35.65,0.00:1.26,0.00:34.39,0.00:1.00,0.00:0.81,0.00:1.00,0.00:60,60:37.6,7.9:0,0:0,0:84,108:64,43:32,14:NM_001271145.1(ST3GAL6) c.495-1161T>G,-:0.34,-:NOT_FOUND,- 3 98503683 rs704585 C T 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=27;DB;DBA=NA;PAF=C/0.3962,T/0.6038;Gene=ST3GAL6/NM_001271142.1/1;CC=c.78-106C>T;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.336-106C>T;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.78-3197C>T;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-97-106C>T;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.495-106C>T;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.336-106C>T;VC=Intron;DM=ST3GAL6/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:27:27:0:0:13,14:398,453:0.00,43.86:0.00,42.02:0.00,1.85:0.00,1.00:0.00,1.00:0.00,0.68:60,60:17.4,42.9:0,0:0,0:69,27:82,124:32,22:-,NM_001271145.1(ST3GAL6) c.495-106C>T:-,0.62:-,NOT_FOUND 3 98503776 rs999147 A G 90 nt VT=SNV;PN=C;NN=T;SST=Single;DP=60;DB;DBA=NA;PAF=A/0.6909,G/0.3091;Gene=ST3GAL6/NM_001271142.1/1;CC=c.78-13A>G;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.336-13A>G;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.78-3104A>G;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-97-13A>G;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.495-13A>G;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.336-13A>G;VC=Intron;DM=ST3GAL6/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:60:46:0:0:29,1,30:955,7,931:0.00,-0.14,89.56:0.00,-0.07,50.34:0.00,-0.07,39.22:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:18.4,27.0,38.3:0,0,0:0,0,0:58,150,43:86,1,105:39,0,21:-,NM_001271145.1(ST3GAL6) c.495-13A>G:-,0.29:-,0.36314 3 98503886 . T . . NT END=98506879;NT GT ./. 3 98503941 rs62278486 G A 32 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.6436,A/0.3564;Gene=ST3GAL6/NM_001271142.1/1;CC=c.173+57G>A;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.431+57G>A;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.78-2939G>A;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-2+57G>A;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.590+57G>A;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.431+57G>A;VC=Intron;DM=ST3GAL6/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:27:3:0:0:12,15:348,483:32.47,0.00:4.79,0.00:27.69,0.00:1.00,0.00:0.84,0.00:1.00,0.00:60,60:42.6,12.7:0,0:0,0:120,84:30,67:19,23:NM_001271145.1(ST3GAL6) c.590+57G>A,-:0.34,-:NOT_FOUND,- 3 98506698 rs2290067 A G 25 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.6909,G/0.3091;Gene=ST3GAL6/NM_001271142.1/1;CC=c.174-182A>G;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.432-182A>G;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.78-182A>G;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.-1-182A>G;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.591-182A>G;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.432-182A>G;VC=Intron;DM=ST3GAL6/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:282,265:0.00,25.21:0.00,25.21:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:3.0,42.2:0,0:0,0:48,42:103,108:28,19:-,NM_001271145.1(ST3GAL6) c.591-182A>G:-,0.29:-,NOT_FOUND 3 98507068 . T . . NT END=98507169;NT GT ./. 3 98507309 . T . . NT END=98510684;NT GT ./. 3 98507513 rs77238167 G CT 8 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.6426,GT/.,GTTTTC/0.03435,GTTTTT/0.3231;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=225;Gene=ST3GAL6/NM_001271142.1/1;CC=c.498+205_498+206insC;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.756+205_756+206insC;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.402+205_402+206insC;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.324+205_324+206insC;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.915+205_915+206insC;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.756+205_756+206insC;VC=Intron;DM=ST3GAL6/Glyco_transf_29;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:G,CT:8:0:3:0:5,3:145,90:0.00,8.14:0.00,0.00:0.00,8.14:0.00,0.67:0.00,0.00:0.00,0.67:60,70:10.0,27.0:0,0:0,0:142,75:7,76:8,19:-,NM_001271145.1(ST3GAL6) c.915+206delGinsCT:-,NOT_FOUND:-,NOT_FOUND 3 98510364 rs278389 G A 17 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.03714,A/0.9629;Gene=ST3GAL6/NM_001271142.1/1;CC=c.499-321G>A;VC=Intron;Gene=ST3GAL6/NM_001271146.1/0;CC=c.757-321G>A;VC=Intron;Gene=ST3GAL6/NM_001271147.1/0;CC=c.403-321G>A;VC=Intron;Gene=ST3GAL6/NM_001271148.1/0;CC=c.325-321G>A;VC=Intron;Gene=ST3GAL6/NM_001271145.1/0;CC=c.916-321G>A;VC=Intron;Gene=ST3GAL6/NM_006100.3/0;CC=c.757-321G>A;VC=Intron;DM=ST3GAL6/Glyco_transf_29 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:146:16.98:16.98:0.00:1.00:1.00:0.00:60:33.4:0:0:23:127:20:NM_001271145.1(ST3GAL6) c.916-321G>A,NM_001271145.1(ST3GAL6) c.916-321G>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 98510839 . T . . NT END=98512518;NT GT ./. 3 98512607 . T . . NT END=98518215;NT GT ./. 3 98518160 rs62821060 T TA 148 idl,rn VT=INS;SST=Single;DP=57;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1400;NP=7;Gene=DCBLD2/NM_080927.3/1;CC=c.*55dupT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:147:T,TA:53:55:49:0:8,45:248,1490:0.00,147.52:0.00,133.52:0.00,14.00:0.00,1.00:0.00,1.00:0.00,1.00:60,70:7.2,14.6:0,4:0,0:113,38:37,113:34,28:-,NM_080927.3(DCBLD2) c.*55dupT:-,NOT_FOUND:-,NOT_FOUND 3 98518686 . C . . NT END=98519422;NT GT ./. 3 98518806 rs1866679 A G 25 nt VT=SNV;PN=C;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.6893,G/0.3107;PC=0.001;Gene=DCBLD2/NM_080927.3/1;CC=c.1859-121T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:0:0:0:11,9:356,267:0.00,24.99:0.00,0.00:0.00,24.99:0.00,1.00:0.00,0.00:0.00,1.00:60,60:6.4,51.2:0,0:0,0:128,105:23,46:11,37:-,NM_080927.3(DCBLD2) c.1859-121T>C:-,0.29:-,NOT_FOUND 3 98518883 rs79927395 A C 9 nt VT=SNV;PN=G;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.9924,C/0.007588;PC=0.041;Gene=DCBLD2/NM_080927.3/1;CC=c.1859-198T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,C:7:0:0:0:4,3:109,93:0.00,8.66:0.00,0.00:0.00,8.66:0.00,0.69:0.00,0.00:0.00,0.69:60,60:50.0,31.0:0,0:0,0:138,47:12,104:7,36:-,NM_080927.3(DCBLD2) c.1859-198T>G:-,0.01:-,NOT_FOUND 3 98519603 . C . . NT END=98520443;NT GT ./. 3 98519697 rs398052140 C CT 23 idl,rn VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3;Gene=DCBLD2/NM_080927.3/1;CC=c.1721-138dupA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:C,CT,D:26:3:13:5:13,9,4:394,366,149:0.00,22.93,9.08:0.00,3.04,0.00:0.00,19.89,9.08:0.00,0.99,0.00:0.00,0.67,0.00:0.00,1.00,0.00:60,60,60:11.8,43.7,22.2:0,4,1:0,0,0:121,99,124:30,52,27:24,21,3:-,NM_080927.3(DCBLD2) c.1721-138_1721-137insA:-,NOT_FOUND:-,NOT_FOUND 3 98520494 . C . . NT END=98526924;NT GT ./. 3 98520602 rs9860216 A G 61 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.639,G/0.361;PC=0.655;Gene=DCBLD2/NM_080927.3/1;CC=c.1671-109T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:10:0:0:10,19:327,600:0.00,60.88:0.00,13.10:0.00,47.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.4,41.8:0,0:0,0:103,122:46,28:33,19:-,NM_080927.3(DCBLD2) c.1671-109T>C:-,0.35:-,NOT_FOUND 3 98527019 . C . . NT END=98530037;NT GT ./. 3 98529906 . AT A 11 rn VT=DEL;SST=Single;DP=20;NP=20;Gene=DCBLD2/NM_080927.3/1;CC=c.1576+131delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:103:AT,I,A:20:20:1:4:15,1,4:463,33,131:0.00,2.14,10.76:0.00,2.17,9.32:0.00,-0.02,1.44:0.00,0.00,0.71:0.00,0.00,0.71:0.00,0.00,0.53:60,60,60:13.9,0.0,8.0:0,0,0:0,0,0:49,101,36:102,50,114:37,0,17:-,NM_080927.3(DCBLD2) c.1576+131delA:-,NOT_FOUND:-,NOT_FOUND 3 98530164 . C . . NT END=98530311;NT GT ./. 3 98530399 . C . . NT END=98531175;NT GT ./. 3 98531001 rs56777250 ATAAC A 21 nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=ATAAC/0.639,A/0.361;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=ATAAC/0.639,A/0.361;DB;DBA=NA;PAF=ATAAC/0.639,A/0.361;NP=758;Gene=DCBLD2/NM_080927.3/1;CC=c.1363+171_1363+174delGTTA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:ATAAC,A:11:11:0:7:4,7:131,212:0.00,21.41:0.00,21.41:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,6.9:0,0:0,0:37,57:114,94:14,20:-,NM_080927.3(DCBLD2) c.1363+171_1363+174delGTTA:-,0.34:-,NOT_FOUND 3 98531327 . C . . NT END=98536612;NT GT ./. 3 98531342 rs9814819 A G 54 nt VT=SNV;PN=C;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.6895,G/0.3105;PC=0.938;Gene=DCBLD2/NM_080927.3/1;CC=c.1213-16T>C;VC=Intron;DM=DCBLD2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:44:14:0:0:25,18,1:772,583,7:0.00,54.20,-0.15:0.00,8.72,-0.05:0.00,45.48,-0.10:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:26.0,58.1,112.0:0,0,0:0,0,0:82,75,43:69,71,108:28,36,0:-,NM_080927.3(DCBLD2) c.1213-16T>C:-,0.29:-,0.359521 3 98531446 rs278378 T C 79 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.03734,C/0.9627;PC=0.004;Gene=DCBLD2/NM_080927.3/1;CC=c.1213-120A>G;VC=Intron;DM=DCBLD2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:2:0:0:22:682:78.64:3.98:74.66:1.00:1.00:1.00:60:54.8:0:0:119:30:25:NM_080927.3(DCBLD2) c.1213-120A>G,NM_080927.3(DCBLD2) c.1213-120A>G:0.97,0.97:NOT_FOUND,NOT_FOUND 3 98536571 rs1440150 T C 67 nt VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.639,C/0.361;PC=0.001;Gene=DCBLD2/NM_080927.3/1;CC=c.1212+42A>G;VC=Intron;DM=DCBLD2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:37:0:0:22,21:697,687:67.21,0.00:55.14,0.00:12.06,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.2,6.1:0,0:0,0:37,42:113,108:20,15:NM_080927.3(DCBLD2) c.1212+42A>G,-:0.35,-:0.445623,- 3 98536738 . C . . NT END=98538045;NT GT ./. 3 98536990 rs9873932 C T 11 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.639,T/0.361;Gene=DCBLD2/NM_080927.3/1;CC=c.1088-253G>A;VC=Intron;DM=DCBLD2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:7:C,T:4:0:0:0:1,3:12,104:0.00,10.88:0.00,0.00:0.00,10.88:0.00,0.85:0.00,0.00:0.00,0.85:60,60:86.0,34.7:0,0:0,0:90,88:60,63:0,4:-,NM_080927.3(DCBLD2) c.1088-253G>A:-,0.35:-,NOT_FOUND 3 98537835 rs9823430 T C 20 nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.6895,C/0.3105;Gene=DCBLD2/NM_080927.3/1;CC=c.1087+211A>G;VC=Intron;DM=DCBLD2/F5_F8_type_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:113:C,T:11:11:0:0:7,4:199,116:20.11,0.00:20.11,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:48.3,16.2:0,0:0,0:54,35:96,114:38,4:NM_080927.3(DCBLD2) c.1087+211A>G,-:0.29,-:NOT_FOUND,- 3 98538262 . C . . NT END=98539091;NT GT ./. 3 98539133 . C . . NT END=98541071;NT GT ./. 3 98540820 rs2922213 A G 20 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.03734,G/0.9627;Gene=DCBLD2/NM_080927.3/1;CC=c.830+252T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:170:19.81:17.78:2.04:1.00:1.00:1.00:60:111.2:0:0:52:97:26:NM_080927.3(DCBLD2) c.830+252T>C,NM_080927.3(DCBLD2) c.830+252T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 98540931 rs9843214 T C 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.6404,C/0.3596;Gene=DCBLD2/NM_080927.3/1;CC=c.830+141A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:22:22:0:0:10,12:316,338:29.81,0.00:29.81,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:63.0,71.8:0,0:0,0:37,25:113,125:14,17:NM_080927.3(DCBLD2) c.830+141A>G,-:0.35,-:0.448901,- 3 98540982 rs852701 A G 61 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.6142,G/0.3858;Gene=DCBLD2/NM_080927.3/1;CC=c.830+90T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:33:0:0:15,19:474,616:0.00,60.53:0.00,57.11:0.00,3.42:0.00,1.00:0.00,1.00:0.00,0.92:60,60:52.9,69.5:0,0:0,0:78,58:72,93:32,28:-,NM_080927.3(DCBLD2) c.830+90T>C:-,0.41:-,0.284269 3 98541012 rs866873 G A 150 nt VT=SNV;PN=A;NN=T;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.04253,A/0.9575,C/.;Gene=DCBLD2/NM_080927.3/1;CC=c.830+60C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:A:41:39:0:0:41:1303:149.77:126.66:23.11:1.00:1.00:1.00:60:61.0:0:0:69:80:34:NM_080927.3(DCBLD2) c.830+60C>T,NM_080927.3(DCBLD2) c.830+60C>T:0.96,0.96:0.967562,0.967562 3 98541116 rs828616 G A 111 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.614,A/0.386;PC=1.000;Gene=DCBLD2/NM_080927.3/1;CC=c.786C>T;ProtCh=p.I262=;VC=Silent;DM=DCBLD2/LCCL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:72:53:0:0:36,36:1157,1180:111.18,0.00:48.98,0.00:62.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.1,10.9:0,0:0,0:59,41:84,104:26,21:NM_080927.3(DCBLD2) c.786C>T (p.(=)),-:0.41,-:0.276701,- 3 98541206 . C . . NT END=98541512;NT GT ./. 3 98541422 rs828617 G T 54 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.5675,T/0.4325;PC=0.005;Gene=DCBLD2/NM_080927.3/1;CC=c.696+91C>A;VC=Intron;DM=DCBLD2/LCCL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:33:28:0:0:14,19:462,544:0.00,53.61:0.00,38.42:0.00,15.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.9,36.4:0,0:0,0:45,51:106,99:16,47:-,NM_080927.3(DCBLD2) c.696+91C>A:-,0.46:-,NOT_FOUND 3 98541586 . C . . NT END=98544158;NT GT ./. 3 98541633 rs828618 G A 38 nt VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.746,A/0.254;PC=0.029;Gene=DCBLD2/NM_080927.3/1;CC=c.624-48C>T;VC=Intron;DM=DCBLD2/LCCL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:13:0:0:12,19:412,573:37.95,0.00:8.78,0.00:29.18,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:38.2,5.3:0,0:0,0:90,129:54,20:18,13:NM_080927.3(DCBLD2) c.624-48C>T,-:0.27,-:0.217173,- 3 98541799 rs828619 A C 36 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.03734,C/0.9627;PC=0.019;Gene=DCBLD2/NM_080927.3/1;CC=c.624-214T>G;VC=Intron;DM=DCBLD2/LCCL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:A,C:11:1:0:0:1,10:34,326:0.00,35.87:0.00,-0.52:0.00,36.39:0.00,1.00:0.00,0.94:0.00,1.00:60,60:86.0,35.3:0,0:0,0:11,66:75,84:0,18:-,NM_080927.3(DCBLD2) c.624-214T>G:-,0.96:-,NOT_FOUND 3 98544123 rs35875162 CA C 49 idl,rn VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=45;PC=0.001;Gene=DCBLD2/NM_080927.3/1;CC=c.623+35delT;VC=Intron;DM=DCBLD2/LCCL;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,CA,C:30:29:0:24:1,13,16:8,431,687:-0.01,0.00,49.48:-0.14,0.00,29.50:0.13,0.00,19.98:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:8.0,15.2,14.3:0,0,6:0,0,0:61,109,50:54,41,92:0,32,31:-,NM_080927.3(DCBLD2) c.623+35delT:-,NOT_FOUND:-,NOT_FOUND 3 98544211 . C . . NT END=98568304;NT GT ./. 3 98544353 rs828622 G A 55 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.04213,A/0.9579;Gene=DCBLD2/NM_080927.3/1;CC=c.572-143C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:A:15:0:0:0:15:477:54.85:0.00:54.85:1.00:0.00:1.00:60:32.6:0:0:109:42:14:NM_080927.3(DCBLD2) c.572-143C>T,NM_080927.3(DCBLD2) c.572-143C>T:0.96,0.96:NOT_FOUND,NOT_FOUND 3 98568013 rs558321280 CA C 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CA/0.05871,C/0.9413;DB;DBA=NA;PAF=CA/0.05871,C/0.9413;DB;DBA=NA;PAF=CA/0.05871,C/0.9413;NP=51;Gene=DCBLD2/NM_080927.3/1;CC=c.571+291delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:CA,C:5:5:0:4:1,4:36,131:0.00,13.92:0.00,14.27:0.00,-0.35:0.00,0.96:0.00,0.96:0.00,0.87:60,60:0.0,4.0:0,0:0,0:138,15:2,134:0,7:-,NM_080927.3(DCBLD2) c.571+291delT:-,NOT_FOUND:-,NOT_FOUND 3 98568443 . C . . NT END=98600383;NT GT ./. 3 98600612 . C . . NT END=98619965;NT GT ./. 3 98620204 . G . . NT END=99509526;NT GT ./. 3 98620372 rs2279761 G A 22 nt VT=SNV;PN=C;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.4097,A/0.5903;PC=0.999;Gene=DCBLD2/NM_080927.3/1;CC=c.-202C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:14:0:0:0:7,7:229,235:22.03,0.00:0.00,0.00:22.03,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:32.7,26.7:0,0:0,0:104,30:47,119:32,21:NM_080927.3(DCBLD2) c.-202C>T,-:0.6,-:NOT_FOUND,- 3 98736144 . AGT A 7 rn VT=DEL;SST=Single;DP=4;NP=56;PC=0.372;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AGT,A:3:3:0:3:1,2:33,101:0.00,6.75:0.00,3.28:0.00,3.48:0.00,0.51:0.00,0.89:0.00,0.89:60,60:98.0,0.0:0,1:0,0:32,67:119,60:0,22:-,chr3 g.98736145_98736146delGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 98843551 rs2948605 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.05691,G/0.9431;NP=430 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,G:4:3:0:0:2,2:70,71:0.00,6.85:0.00,7.30:0.00,-0.45:0.00,0.51:0.00,0.89:0.00,0.79:60,60:67.5,97.0:1,0:0,0:102,51:36,80:18,21:-,chr3 g.98843550C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 98843553 rs13078469 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4317,G/0.5683;NP=275 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:C,G:4:3:0:0:2,2:64,71:0.00,6.85:0.00,7.30:0.00,-0.45:0.00,0.51:0.00,0.89:0.00,0.79:60,60:70.5,97.0:0,0:0,0:104,53:32,78:18,21:-,chr3 g.98843552C>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 98854030 rs199918180 ATGTG G,A 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=80;PC=0.011 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:30:G,A:3:4:0:3:1,2:34,99:3.28,6.85:1.64,3.43:1.64,3.43:0.00,0.51:0.00,0.51:0.00,0.89:60,60:46.0,0.0:0,1:0,0:54,78:63,72:0,34:chr3 g.98854030_98854033delATGT (intergenic),chr3 g.98854031_98854034delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 98924514 rs71124030 C CGTGT 6 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=18;NP=5;NP=56;PC=0.001;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:C,CGTGT,D:6:4:2:2:2,2,2:68,67,61:0.00,6.35,5.75:0.00,1.56,4.31:0.00,4.79,1.44:0.00,0.42,0.00:0.00,0.81,0.00:0.00,0.86,0.00:60,60,60:0.0,0.0,0.0:0,0,0:0,0,0:83,55,83:35,95,53:27,13,9:-,chr3 g.98924514_98924515insGTGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 99509855 . G . . NT END=99513070;NT GT ./. 3 99514981 . A . . NT END=99536823;NT GT ./. 3 99536888 . G . . NT END=99552078;NT GT ./. 3 99536937 rs1718240 C T 58 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=C/0.6903,A/.,T/0.3097;Gene=MIR548G/NR_031662.1/0;VC=NonCoding;Gene=HP09053/NR_110821.1/0;VC=NonCoding;Gene=CMSS1/NM_032359.3/1;CC=c.64+50C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:42:17:0:0:24,18:741,618:0.00,57.95:0.00,16.16:0.00,41.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.5,41.9:0,0:0,0:113,114:38,36:18,22:-,NM_032359.3(CMSS1) c.64+50C>T:-,0.35:-,0.292379 3 99552106 . C . . NT END=99566771;NT GT ./. 3 99569915 . C . . NT END=99594915;NT GT ./. 3 99595047 . G . . NT END=99643073;NT GT ./. 3 99643176 rs793440 C T 106 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=C/0.7466,T/0.2534;PC=1.000;Gene=MIR548G/NR_031662.1/0;VC=NonCoding;Gene=CMSS1/NM_032359.3/1;CC=c.64+106289C>T;VC=Intron;Gene=FILIP1L/NM_182909.3/1;CC=c.503G>A;ProtCh=p.R168H;VC=Missense;Gene=FILIP1L/NM_001042459.2/0;CC=c.503G>A;ProtCh=p.R168H;VC=Missense;DM=FILIP1L/CortBP2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:83:58:0:0:49,34:1509,1145:0.00,106.38:0.00,58.31:0.00,48.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,38.4:0,0:0,0:82,66:65,83:35,27:-,NM_182909.2(FILIP1L) c.503G>A (p.Arg168His):-,0.24:-,0.289754 3 99643253 . C . . NT END=99644677;NT GT ./. 3 99644423 rs34149588 TA T 16 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=TA/0.7696,T/0.2304;NP=362;PC=0.001;Gene=MIR548G/NR_031662.1/0;VC=NonCoding;Gene=CMSS1/NM_032359.3/1;CC=c.64+107544delA;VC=Intron;Gene=FILIP1L/NM_182909.3/1;CC=c.427-1172delT;VC=Intron;Gene=FILIP1L/NM_001042459.2/0;CC=c.427-1172delT;VC=Intron;DM=FILIP1L/CortBP2;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:TA,T:7:7:0:5:2,5:65,154:0.00,15.97:0.00,15.97:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,70:0.0,6.6:0,0:0,0:35,89:113,60:6,26:-,NM_032359.3(CMSS1) c.64+107537delA:-,0.23:-,NOT_FOUND 3 99644750 . G . . NT END=99648699;NT GT ./. 3 99648357 rs10629410 A AGTGT 13 rn VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1;NP=101;NP=3;NP=47;PC=0.041;Gene=MIR548G/NR_031662.1/0;VC=NonCoding;Gene=CMSS1/NM_032359.3/1;CC=c.64+111498_64+111499insGTGT;VC=Intron;Gene=FILIP1L/NM_182909.3/1;CC=c.426+342_426+343insACAC;VC=Intron;Gene=FILIP1L/NM_001042459.2/0;CC=c.426+342_426+343insACAC;VC=Intron;DM=FILIP1L/CortBP2;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:A,AGTGT:7:6:4:0:3,4:105,129:0.00,12.73:0.00,6.13:0.00,6.60:0.00,0.90:0.00,0.99:0.00,0.98:60,60:16.3,3.2:0,0:0,0:63,43:46,106:6,5:-,NM_032359.3(CMSS1) c.64+111470_64+111471insGTGT:-,NOT_FOUND:-,NOT_FOUND 3 99648874 . C . . NT END=99649612;NT GT ./. 3 99649852 . C T 148 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=87;PC=1.000;Gene=MIR548G/NR_031662.1/0;VC=NonCoding;Gene=CMSS1/NM_032359.3/1;CC=c.64+112965C>T;VC=Intron;Gene=FILIP1L/NM_182909.3/1;CC=c.13G>A;ProtCh=p.G5S;VC=Missense;Gene=FILIP1L/NM_001042459.2/0;CC=c.13G>A;ProtCh=p.G5S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:87:49:0:0:39,1,47:1237,10,1515:0.00,-0.08,148.16:0.00,-0.07,67.72:0.00,-0.01,80.45:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:13.2,77.0,40.1:0,0,0:0,0,0:81,56,113:69,95,38:34,0,23:-,NM_182909.2(FILIP1L) c.13G>A (p.Gly5Ser):-,NOT_FOUND:-,NOT_FOUND 3 99649865 . T . . NT END=99728974;NT GT ./. 3 99702892 rs367846393 A ATGTGTGTGTGTGTGTGTGTGTG 11 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;Gene=MIR548G/NR_031662.1/0;VC=NonCoding;Gene=CMSS1/NM_032359.3/1;CC=c.65-162922_65-162921insGTGTGTGTGTGTGTGTGTGTGT;VC=Intron;Gene=FILIP1L/NM_182909.3/1;CC=c.-10-53019_-10-53018insCACACACACACACACACACACA;VC=Intron;Gene=FILIP1L/NM_001042459.2/0;CC=c.-10-53019_-10-53018insCACACACACACACACACACACA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:26:A,ATGTGTGTGTGTGTGTGTGTGTG:5:6:5:0:1,4:33,141:0.00,11.42:0.00,9.72:0.00,1.70:0.00,0.93:0.00,0.93:0.00,0.78:60,70:72.0,63.2:0,1:0,0:51,55:99,95:0,15:-,NM_032359.3(CMSS1) c.65-162925_65-162924insTGTGTGTGTGTGTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 99702896 rs9867208 A G 23 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.1973,G/0.8027;NP=261;Gene=MIR548G/NR_031662.1/0;VC=NonCoding;Gene=CMSS1/NM_032359.3/1;CC=c.65-162921A>G;VC=Intron;Gene=FILIP1L/NM_182909.3/1;CC=c.-10-53022T>C;VC=Intron;Gene=FILIP1L/NM_001042459.2/0;CC=c.-10-53022T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:202:23.06:21.07:1.99:1.00:1.00:1.00:70:54.2:0:0:82:68:20:NM_032359.3(CMSS1) c.65-162921A>G,NM_032359.3(CMSS1) c.65-162921A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 99729025 . G . . NT END=99833773;NT GT ./. 3 99729132 rs7619512 T C 21 nt VT=SNV;PN=A;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.477,C/0.523,G/.;PC=0.001;Gene=CMSS1/NM_032359.3/1;CC=c.65-136685T>C;VC=Intron;Gene=FILIP1L/NM_182909.3/1;CC=c.-10-79258A>G;VC=Intron;Gene=FILIP1L/NM_001042459.2/0;CC=c.-10-79258A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:C,T:11:0:0:0:7,4:204,129:20.61,0.00:0.00,0.00:20.61,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:32.1,10.2:0,0:0,0:115,98:35,51:21,17:NM_032359.3(CMSS1) c.65-136685T>C,-:0.56,-:NOT_FOUND,- 3 99833843 . G . . NT END=99865816;NT GT ./. 3 99865906 . G . . NT END=99879273;NT GT ./. 3 99879346 . G . . NT END=99881146;NT GT ./. 3 99881277 . G . . NT END=99885178;NT GT ./. 3 99885239 . G . . NT END=99886581;NT GT ./. 3 99886685 . G . . NT END=99890682;NT GT ./. 3 99890744 . G . . NT END=99891159;NT GT ./. 3 99891248 . G . . NT END=99895170;NT GT ./. 3 99895260 . G . . NT END=99897148;NT GT ./. 3 99897233 . G . . NT END=99979862;NT GT ./. 3 99944694 rs59233020 T G 90 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.6995,G/0.3005;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:59:G:23:7:0:0:23:786:89.57:23.81:65.76:1.00:1.00:1.00:60:40.9:0:0:74:77:37:chr3 g.99944693T>G (intergenic),chr3 g.99944693T>G (intergenic):0.31,0.31:NOT_FOUND,NOT_FOUND 3 99979916 . G . . NT END=99998492;NT GT ./. 3 99998605 . G . . NT END=100000585;NT GT ./. 3 100000692 . G . . NT END=100002450;NT GT ./. 3 100002656 . G . . NT END=100009421;NT GT ./. 3 100009546 . G . . NT END=100013930;NT GT ./. 3 100014056 . G . . NT END=100014145;NT GT ./. 3 100014193 . G . . NT END=100015015;NT GT ./. 3 100015120 . G . . NT END=100016766;NT GT ./. 3 100015146 rs3772698 G T 95 nt VT=SNV;PN=T;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.4834,T/0.5166;Gene=TBC1D23/NM_001199198.2/1;CC=c.876+27G>T;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.876+27G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:T:26:10:0:0:26:831:95.48:20.37:75.10:1.00:1.00:1.00:60:56.5:0:0:113:26:28:NM_001199198.2(TBC1D23) c.876+27G>T,NM_001199198.2(TBC1D23) c.876+27G>T:0.54,0.54:0.498306,0.498306 3 100015166 rs3772697 C T 69 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.7268,T/0.2732;Gene=TBC1D23/NM_001199198.2/1;CC=c.876+47C>T;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.876+47C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:2:0:0:19:602:69.26:4.61:64.64:1.00:1.00:1.00:60:69.4:0:0:96:54:33:NM_001199198.2(TBC1D23) c.876+47C>T,NM_001199198.2(TBC1D23) c.876+47C>T:0.29,0.29:0.176802,0.176802 3 100015249 rs5851199 AT A 8 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=AT/0.7165,A/0.2835;DB;DBA=NA;PAF=AT/0.7165,A/0.2835;NP=308;Gene=TBC1D23/NM_001199198.2/1;CC=c.876+141delT;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.876+141delT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:AT,A:7:0:0:3:4,3:122,87:0.00,8.05:0.00,0.00:0.00,8.05:0.00,0.69:0.00,0.00:0.00,0.69:60,60:74.8,47.7:0,0:0,0:145,93:5,58:2,12:-,NM_001199198.2(TBC1D23) c.876+131delT:-,NOT_FOUND:-,NOT_FOUND 3 100016726 rs398052631 A AT 69 rn VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1047;Gene=TBC1D23/NM_001199198.2/1;CC=c.877-31dupT;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.877-31dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:A,AT:25:23:22:0:4,21:105,662:0.00,69.28:0.00,56.23:0.00,13.05:0.00,1.00:0.00,1.00:0.00,1.00:60,60:51.0,10.1:1,1:0,0:114,39:29,106:20,28:-,NM_001199198.2(TBC1D23) c.877-41_877-40insT:-,NOT_FOUND:-,NOT_FOUND 3 100016890 . G . . NT END=100018082;NT GT ./. 3 100017147 rs35250838 TC T 13 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TC/0.2466,T/0.7534;NP=120;Gene=TBC1D23/NM_001199198.2/1;CC=c.999+260delC;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.999+260delC;VC=Intron;DM=TBC1D23/Rhodanese;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:0:0:4:4:115:13.39:0.00:13.39:1.00:0.00:1.00:60:33.8:0:0:58:92:31:NM_001199198.2(TBC1D23) c.999+259delC,NM_001199198.2(TBC1D23) c.999+259delC:0.77,0.77:NOT_FOUND,NOT_FOUND 3 100018176 . G . . NT END=100020910;NT GT ./. 3 100020641 rs74791169 C T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.984,T/0.01597;PC=0.600;Gene=TBC1D23/NM_001199198.2/1;CC=c.1093-270C>T;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.1093-270C>T;VC=Intron;DM=TBC1D23/Rhodanese GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:C,T:4:4:0:0:1,3:34,100:0.00,10.45:0.00,10.45:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,37.3:0,0:0,0:14,12:136,139:0,3:-,NM_001199198.2(TBC1D23) c.1093-270C>T:-,0.02:-,NOT_FOUND 3 100021082 . G . . NT END=100023689;NT GT ./. 3 100023733 . G . . NT END=100025280;NT GT ./. 3 100025388 . G . . NT END=100029246;NT GT ./. 3 100029173 rs4928168 A G 132 nt VT=SNV;PN=C;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.6997,G/0.3003;Gene=TBC1D23/NM_001199198.2/1;CC=c.1414-74A>G;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.1414-74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:G:37:33:0:0:37:1141:131.62:94.99:36.63:1.00:1.00:1.00:60:41.4:0:0:40:109:17:NM_001199198.2(TBC1D23) c.1414-74A>G,NM_001199198.2(TBC1D23) c.1414-74A>G:0.31,0.31:NOT_FOUND,NOT_FOUND 3 100029387 . G . . NT END=100030676;NT GT ./. 3 100030628 rs397823531 A AT 65 rn VT=INS;SST=Single;DP=18;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.7234,AT/0.2766;DB;DBA=NA;PAF=A/0.7234,AT/0.2766;NP=31;PC=0.462;Gene=TBC1D23/NM_001199198.2/1;CC=c.1554-41dupT;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.1553+1250dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:44:AT:18:17:18:0:18:560:64.58:51.66:12.92:1.00:1.00:1.00:60:7.4:0:0:49:100:21:NM_001199198.2(TBC1D23) c.1554-49_1554-48insT,NM_001199198.2(TBC1D23) c.1554-49_1554-48insT:0.29,0.29:NOT_FOUND,NOT_FOUND 3 100030722 . G . . NT END=100034942;NT GT ./. 3 100034849 rs4928169 A T 62 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4832,T/0.5168;PC=0.035;Gene=TBC1D23/NM_001199198.2/1;CC=c.1599-94A>T;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.1554-94A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:17:0:0:17:538:61.86:59.97:1.89:1.00:1.00:1.00:60:35.5:0:0:57:92:44:NM_001199198.2(TBC1D23) c.1599-94A>T,NM_001199198.2(TBC1D23) c.1599-94A>T:0.54,0.54:NOT_FOUND,NOT_FOUND 3 100035032 . G . . NT END=100037912;NT GT ./. 3 100037795 rs1214369 G C 57 nt VT=SNV;PN=G;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=G/0.2452,C/0.7548;Gene=TBC1D23/NM_001199198.2/1;CC=c.1688-118G>C;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.1643-118G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:14:0:0:15:499:57.05:50.20:6.85:1.00:1.00:1.00:60:51.7:0:0:42:109:33:NM_001199198.2(TBC1D23) c.1688-118G>C,NM_001199198.2(TBC1D23) c.1688-118G>C:0.77,0.77:NOT_FOUND,NOT_FOUND 3 100038049 . G . . NT END=100039620;NT GT ./. 3 100038274 rs541644359 C CT 19 rn VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7073,CT/0.2927;DB;DBA=NA;PAF=C/0.7073,CT/0.2927;DB;DBA=NA;PAF=C/0.7073,CT/0.2927;NP=48;PC=0.005;Gene=TBC1D23/NM_001199198.2/1;CC=c.1823+235_1823+236insT;VC=Intron;Gene=TBC1D23/NM_018309.4/0;CC=c.1778+235_1778+236insT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:92:C,CT:9:0:6:0:3,6:96,187:0.00,19.07:0.00,0.00:0.00,19.07:0.00,0.99:0.00,0.00:0.00,0.99:60,60:5.7,13.8:1,0:0,0:144,61:6,89:6,26:-,NM_001199198.2(TBC1D23) c.1823+226_1823+227insT:-,NOT_FOUND:-,NOT_FOUND 3 100039816 . G . . NT END=100042430;NT GT ./. 3 100042513 . t . . NT END=100053635;NT GT ./. 3 100053552 rs76630560 T G 205 nt VT=SNV;PN=G;NN=C;SST=Single;DP=57;DB;DBA=NA;PAF=T/0.7344,G/0.2656 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:160:G:57:45:0:0:57:1776:204.56:118.72:85.84:1.00:1.00:1.00:60:41.9:0:0:27:111:20:NM_020202.4(NIT2) c.-74-u10T>G,NM_020202.4(NIT2) c.-74-u10T>G:0.32,0.32:NOT_FOUND,NOT_FOUND 3 100053643 . G . . NT END=100057930;NT GT ./. 3 100053684 rs3830303 C CG 189 nt VT=INS;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.1975,CG/0.8019,CGG/0.000599,CGGG/.,CT/.;NP=1634;Gene=NIT2/NM_020202.4/1;CC=c.7+47dupG;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:C,CG:63:44:55:0:8,55:220,1726:0.00,188.51:0.00,84.28:0.00,104.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:60.9,8.1:1,0:0,0:143,82:7,47:1,28:-,NM_020202.4(NIT2) c.7+42_7+43insG:-,0.8:-,0.711259 3 100057846 rs1214381 C T 78 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=NA;PC=0.001;Gene=NIT2/NM_020202.4/1;CC=c.8-85C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G,T:23:22:0:0:1,22:11,684:0.39,78.41:0.39,72.63:0.00,5.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:53.0,42.0:0,0:0,0:9,47:141,103:0,34:NM_020202.4(NIT2) c.8-85C>T,NM_020202.4(NIT2) c.8-85C>T:0.28,0.28:NOT_FOUND,NOT_FOUND 3 100058050 . G . . NT END=100058658;NT GT ./. 3 100058102 rs166747 G A 100 nt VT=SNV;PN=C;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7314,A/0.2686;Gene=NIT2/NM_020202.4/1;CC=c.126+53G>A;VC=Intron;DM=NIT2/CN_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:A:26:5:0:0:26:880:100.40:13.92:86.48:1.00:1.00:1.00:60:49.5:0:0:83:66:43:NM_020202.4(NIT2) c.126+53G>A,NM_020202.4(NIT2) c.126+53G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 3 100058205 rs392066 G A 51 nt VT=SNV;PN=G;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=G/0.8239,A/0.1761;Gene=NIT2/NM_020202.4/1;CC=c.126+156G>A;VC=Intron;DM=NIT2/CN_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:1:0:0:14:446:51.27:3.88:47.39:1.00:1.00:1.00:60:60.6:0:0:104:46:32:NM_020202.4(NIT2) c.126+156G>A,NM_020202.4(NIT2) c.126+156G>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 100058780 . G . . NT END=100059916;NT GT ./. 3 100060006 . G . . NT END=100064428;NT GT ./. 3 100060135 rs1228184 G A 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7318,A/0.2682;Gene=NIT2/NM_020202.4/1;CC=c.336+130G>A;VC=Intron;DM=NIT2/CN_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:A:9:0:0:0:9:252:29.44:0.00:29.44:1.00:0.00:1.00:60:36.9:0:0:80:71:42:NM_020202.4(NIT2) c.336+130G>A,NM_020202.4(NIT2) c.336+130G>A:0.28,0.28:NOT_FOUND,NOT_FOUND 3 100064523 . G . . NT END=100065024;NT GT ./. 3 100064741 rs1045206 C T 30 nt VT=SNV;PN=A;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.5166,T/0.4834;Gene=NIT2/NM_020202.4/1;CC=c.430+219C>T;VC=Intron;DM=NIT2/CN_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:T:8:4:0:0:8:263:30.12:15.01:15.11:1.00:1.00:1.00:60:49.2:0:0:100:49:38:NM_020202.4(NIT2) c.430+219C>T,NM_020202.4(NIT2) c.430+219C>T:0.5,0.5:NOT_FOUND,NOT_FOUND 3 100065100 . G . . NT END=100067646;NT GT ./. 3 100067468 rs277649 C T 19 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.2025,T/0.7975;Gene=NIT2/NM_020202.4/1;CC=c.506-179C>T;VC=Intron;DM=NIT2/CN_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:163:19.10:19.10:0.00:1.00:1.00:0.00:60:32.2:0:0:52:97:20:NM_020202.4(NIT2) c.506-179C>T,NM_020202.4(NIT2) c.506-179C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 3 100067726 . G . . NT END=100071247;NT GT ./. 3 100067952 . C CT 8 rn VT=INS;SST=Single;DP=7;NP=2;Gene=NIT2/NM_020202.4/1;CC=c.584+245_584+246insT;VC=Intron;DM=NIT2/CN_hydrolase;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:81:C,T,CT:7:1:3:0:3,1,3:95,10,85:0.00,0.47,8.10:0.00,0.00,3.11:0.00,0.47,4.99:0.00,0.00,0.69:0.00,0.00,0.62:0.00,0.00,0.95:60,60,60:0.0,65.0,23.7:0,0,0:0,0,0:144,123,112:6,27,39:1,0,11:-,NM_020202.4(NIT2) c.584+227_584+228insT:-,NOT_FOUND:-,NOT_FOUND 3 100071347 . G . . NT END=100073615;NT GT ./. 3 100073672 . G . . NT END=100074020;NT GT ./. 3 100073826 rs277646 T G 80 nt VT=SNV;PN=A;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.2009,A/.,G/0.7991;Gene=NIT2/NM_020202.4/1;CC=c.739+155T>G;VC=Intron;DM=NIT2/CN_hydrolase GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:8:0:0:21:702:80.21:28.41:51.80:1.00:1.00:1.00:60:37.0:0:0:103:48:38:NM_020202.4(NIT2) c.739+155T>G,NM_020202.4(NIT2) c.739+155T>G:0.8,0.8:NOT_FOUND,NOT_FOUND 3 100074113 . A . . NT END=100084407;NT GT ./. 3 100084095 rs11332311 TA T 14 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TA/0.7418,T/0.2582;NP=27;PC=0.977;Gene=TOMM70A/NM_014820.4/1;CC=c.*312delT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:4:4:122:14.11:14.11:0.00:1.00:1.00:0.00:60:7.5:0:0:67:82:11:NM_014820.4(TOMM70A) c.*303T[9],NM_014820.4(TOMM70A) c.*303T[9]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100084432 rs277644 G A 368 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=100;DB;DBA=NA;PAF=G/0.7472,A/0.2528;PC=0.110;Gene=TOMM70A/NM_014820.4/1;CC=c.1803C>T;ProtCh=p.Y601=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:100:79:0:0:100:3200:367.51:228.34:139.17:1.00:1.00:1.00:60:37.1:0:0:65:82:33:NM_014820.4(TOMM70A) c.1803C>T (p.(=)),NM_014820.4(TOMM70A) c.1803C>T (p.(=)):0.27,0.27:0.136552,0.136552 3 100084562 . C . . NT END=100086887;NT GT ./. 3 100086861 rs277640 T C 179 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.2039,C/0.7961;Gene=TOMM70A/NM_014820.4/1;CC=c.1673+27A>G;VC=Intron;DM=TOMM70A/TPR_8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:128:C:46:43:0:0:46:1572:179.14:135.29:43.85:1.00:1.00:1.00:60:43.1:0:0:49:98:27:NM_014820.4(TOMM70A) c.1673+27A>G,NM_014820.4(TOMM70A) c.1673+27A>G:0.8,0.8:0.735045,0.735045 3 100087011 . C . . NT END=100087881;NT GT ./. 3 100087334 rs277639 G C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.5779,C/0.4221;Gene=TOMM70A/NM_014820.4/1;CC=c.1551-324C>G;VC=Intron;DM=TOMM70A/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:169:19.28:0.00:19.28:1.00:0.00:1.00:60:44.0:0:0:98:53:12:NM_014820.4(TOMM70A) c.1551-324C>G,NM_014820.4(TOMM70A) c.1551-324C>G:0.42,0.42:NOT_FOUND,NOT_FOUND 3 100087980 . C . . NT END=100091449;NT GT ./. 3 100091567 . C . . NT END=100092381;NT GT ./. 3 100092490 . C . . NT END=100093861;NT GT ./. 3 100092527 rs34039127 G GGTGC 95 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.001;Gene=TOMM70A/NM_014820.4/1;CC=c.1228-39_1228-38insGCAC;VC=Intron;DM=TOMM70A/TPR_11;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:G,GGTGC:30:12:27:0:3,27:95,864:0.00,95.04:0.00,31.71:0.00,63.32:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,37.7:0,0:0,0:146,94:1,57:3,19:-,NM_014820.4(TOMM70A) c.1228-39_1228-38insGCAC:-,0.79:-,0.721742 3 100092528 rs77454344 T A 101 idl,nt VT=SNV;PN=G;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=T/0.2198,TACA/.,TG/.,TGAA/.,TGCA/0.7802,TTGCA/.;DB;DBA=NA;PAF=NA;Gene=TOMM70A/NM_014820.4/1;CC=c.1228-39A>T;VC=Intron;DM=TOMM70A/TPR_11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:A:27:12:0:0:27:884:101.28:31.02:70.26:1.00:1.00:1.00:60:37.8:27:0:99:52:19:NM_014820.4(TOMM70A) c.1228-39A>T,NM_014820.4(TOMM70A) c.1228-39A>T:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100093997 . C . . NT END=100096548;NT GT ./. 3 100096419 rs277633 G A 115 nt VT=SNV;PN=A;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=G/0.7646,A/0.2354;Gene=TOMM70A/NM_014820.4/1;CC=c.1092+130C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:A:32:32:0:0:32:993:114.53:114.53:0.00:1.00:1.00:0.00:60:42.5:0:0:46:104:30:NM_014820.4(TOMM70A) c.1092+130C>T,NM_014820.4(TOMM70A) c.1092+130C>T:0.26,0.26:NOT_FOUND,NOT_FOUND 3 100096757 . C . . NT END=100100458;NT GT ./. 3 100100608 . C . . NT END=100103322;NT GT ./. 3 100103091 rs76412610 C T 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7522,T/0.2478;PC=0.010;Gene=TOMM70A/NM_014820.4/1;CC=c.735+232G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:122:14.10:14.10:0.00:1.00:1.00:0.00:60:33.2:0:0:86:64:24:NM_014820.4(TOMM70A) c.735+232G>A,NM_014820.4(TOMM70A) c.735+232G>A:0.27,0.27:NOT_FOUND,NOT_FOUND 3 100103433 . C . . NT END=100105061;NT GT ./. 3 100105189 . C . . NT END=100105648;NT GT ./. 3 100105823 . C . . NT END=100119469;NT GT ./. 3 100106412 rs4928171 C T 15 nt VT=SNV;PN=A;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2055,T/0.7945;PC=0.002;Gene=TOMM70A/NM_014820.4/1;CC=c.325-590G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:133:15.21:9.54:5.67:1.00:1.00:1.00:60:45.8:0:0:58:80:19:NM_014820.4(TOMM70A) c.325-590G>A,NM_014820.4(TOMM70A) c.325-590G>A:0.8,0.8:NOT_FOUND,NOT_FOUND 3 100106487 rs386397406 C CT 12 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1384,CT/0.8616;DB;DBA=NA;PAF=C/0.1384,CT/0.8616;DB;DBA=NA;PAF=C/0.1384,CT/0.8616;NP=204;PC=0.009;Gene=TOMM70A/NM_014820.4/1;CC=c.325-666_325-665insA;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:C,CT:6:3:4:0:2,4:55,122:0.00,12.45:0.00,2.83:0.00,9.63:0.00,0.93:0.00,0.97:0.00,0.99:60,60:67.0,20.5:0,0:0,0:132,33:-5,117:9,5:-,NM_014820.4(TOMM70A) c.325-666_325-665insA:-,NOT_FOUND:-,NOT_FOUND 3 100119548 rs7645509 T C 327 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=210;DB;DBA=NA;PAF=T/0.9667,C/0.03335;PC=0.997;Gene=TOMM70A/NM_014820.4/1;CC=c.246A>G;ProtCh=p.E82=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:210:172:0:0:102,1,107:3412,12,3425:326.90,-0.15,0.00:226.92,-0.05,0.00:99.99,-0.10,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.3,37.0,5.2:0,0,0:0,0,0:67,65,70:80,86,79:28,0,39:NM_014820.4(TOMM70A) c.246A>G (p.(=)),-:0.02,-:0.01325,- 3 100119794 . G . . NT END=100148573;NT GT ./. 3 100128386 rs6799116 C A 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=NA;Gene=LNP1/NM_001085451.1/1;CC=c.-34+7103C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:0:4:128:14.71:8.94:5.77:1.00:1.00:1.00:60:55.8:0:0:65:70:2:NM_001085451.1(LNP1) c.-34+7103C>A,NM_001085451.1(LNP1) c.-34+7103C>A:0.45,0.45:NOT_FOUND,NOT_FOUND 3 100128450 rs369050413 AT A 6 idl,rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=22;PC=0.121;Gene=LNP1/NM_001085451.1/1;CC=c.-34+7181delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:AT,A:3:3:0:4:1,2:33,132:0.00,6.44:0.00,3.32:0.00,3.12:0.00,0.46:0.00,0.80:0.00,0.46:60,60:27.0,93.0:1,2:0,0:36,69:115,70:0,35:-,NM_001085451.1(LNP1) c.-34+7168delT:-,NOT_FOUND:-,NOT_FOUND 3 100148730 . G . . NT END=100170562;NT GT ./. 3 100170600 rs76354691 A ATCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCG 32 idl VT=INS;SST=Single;DP=55;DB;DBA=NA;PAF=NA;PC=0.001;Gene=LNP1/NM_001085451.1/1;CC=c.221_222insGGAATTCCGATGCCGTCCTAGAAGGCATTCTCATGAGGACCA;ProtCh=p.R79_S80insPRRHSHEDQEFRCR;VC=InFrameIns;DM=LNP1/LNP1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCG:52:47:16:0:39,13:1315,468:0.00,32.19:0.00,28.18:0.00,4.01:0.00,1.00:0.00,1.00:0.00,1.00:60,70:5.2,1.6:0,3:0,0:64,84:62,43:36,13:-,NM_001085451.1(LNP1) c.221_222insGGAATTCCGATGCCGTCCTAGAAGGCATTCTCATGAGGACCA (p.Pro66_Arg79dup):-,NOT_FOUND:-,NOT_FOUND 3 100170794 . G . . NT END=100174620;NT GT ./. 3 100170825 rs6797397 G A 69 nt VT=SNV;PN=C;NN=C;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.4772,A/0.5228;Gene=LNP1/NM_001085451.1/1;CC=c.387+32G>A;VC=Intron;DM=LNP1/LNP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:10:0:0:22,14:689,475:68.94,0.00:9.11,0.00:59.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.5,1.6:0,0:0,0:124,117:21,33:17,23:NM_001085451.1(LNP1) c.387+32G>A,-:0.54,-:0.42822,- 3 100174722 rs1132022 G A 97 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=78;DB;DBA=NA;PAF=G/0.5156,A/0.4844;Gene=LNP1/NM_001085451.1/1;CC=c.489G>A;ProtCh=p.E163=;VC=Silent;DM=LNP1/LNP1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:78:39:0:0:34,44:1042,1359:97.25,0.00:41.16,0.00:56.09,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:44.3,8.3:0,0:0,0:78,74:66,74:36,33:NM_001085451.1(LNP1) c.489G>A (p.(=)),-:0.51,-:0.388148,- 3 100174771 . T . . NT END=100238407;NT GT ./. 3 100196280 rs9798914 A C,G 12 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6002,C/0.3998 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:C,G:4:3:0:0:3,1:107,10:11.76,0.88:9.78,0.00:1.98,0.88:0.85,0.00:0.99,0.00:0.95,0.00:60,48:72.7,176.0:0,0:0,0:51,63:100,86:26,0:chr3 g.100196279A>C (intergenic),chr3 g.100196279A>G (intergenic):0.41,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100196340 rs190163515 C T 8 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9273,T/0.07268 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:5:4:0:0:2,3:70,76:0.00,7.54:0.00,3.11:0.00,4.43:0.00,0.78:0.00,0.97:0.00,0.78:60,60:66.5,106.7:0,0:0,0:94,67:56,84:16,54:-,chr3 g.100196339C>T (intergenic):-,0.1:-,NOT_FOUND 3 100196403 rs113019457 C T 18 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.5994,T/0.4006;NP=387 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:3:0:0:5:160:18.38:6.90:11.48:1.00:1.00:1.00:60:62.4:0:0:113:38:28:chr3 g.100196402C>T (intergenic),chr3 g.100196402C>T (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100238231 rs67473840 ATG A 18 rn VT=DEL;SST=Single;DP=19;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=62;PC=0.001;Gene=TMEM45A/NM_018004.1/1;CC=c.-4+26481_-4+26482delGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:183:ATG,G,A:18:18:0:8:11,1,6:336,31,230:0.00,2.04,17.65:0.00,2.06,12.67:0.00,-0.01,4.98:0.00,0.00,0.94:0.00,0.00,1.00:0.00,0.00,0.70:60,60,60:6.2,98.0,0.0:0,0,1:0,0,0:109,19,55:36,123,93:33,0,7:-,NM_018004.1(TMEM45A) c.-4+26460_-4+26461delTG:-,NOT_FOUND:-,NOT_FOUND 3 100238453 . G . . NT END=100274052;NT GT ./. 3 100273828 rs62274575 A G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6997,G/0.3003;Gene=TMEM45A/NM_018004.1/1;CC=c.-3-225A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:24:A,G:6:6:0:0:1,5:34,156:0.00,16.81:0.00,16.81:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:0.0,38.0:0,0:0,0:32,53:119,98:0,25:-,NM_018004.1(TMEM45A) c.-3-225A>G:-,0.35:-,NOT_FOUND 3 100274246 . G . . NT END=100275603;NT GT ./. 3 100275817 . G . . NT END=100277248;NT GT ./. 3 100275924 rs7631877 A G 29 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.5242,G/0.4758;Gene=TMEM45A/NM_018004.1/1;CC=c.403+108A>G;VC=Intron;DM=TMEM45A/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:21:0:0:0:11,10:310,305:0.00,28.95:0.00,0.00:0.00,28.95:0.00,1.00:0.00,0.00:0.00,1.00:60,60:10.4,32.2:0,0:0,0:98,60:52,90:27,17:-,NM_018004.1(TMEM45A) c.403+108A>G:-,0.5:-,NOT_FOUND 3 100277434 . G . . NT END=100287665;NT GT ./. 3 100277476 rs7645690 G C 117 nt VT=SNV;PN=T;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.6328,C/0.3672;Gene=TMEM45A/NM_018004.1/1;CC=c.588+43G>C;VC=Intron;DM=TMEM45A/DUF716;DM=TMEM45A/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:62:19:0:0:35,27:1188,904:117.05,0.00:12.26,0.00:104.79,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.0,6.6:0,0:0,0:100,100:50,50:31,21:NM_018004.1(TMEM45A) c.588+43G>C,-:0.4,-:0.42565,- 3 100277514 rs7645700 G A 78 sb,nt VT=SNV;PN=C;NN=G;SST=Single;DP=49;DB;DBA=NA;PAF=G/0.5218,A/0.4782;Gene=TMEM45A/NM_018004.1/1;CC=c.588+81G>A;VC=Intron;DM=TMEM45A/DUF716;DM=TMEM45A/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G,T:49:6:0:0:25,23,1:806,681,10:78.10,0.00,-0.02:0.94,0.00,-0.03:77.16,0.00,0.01:1.00,0.00,0.00:0.98,0.00,0.00:1.00,0.00,0.00:60,60,60:86.3,3.0,63.0:0,0,0:0,0,0:101,111,115:50,40,36:28,29,0:NM_018004.1(TMEM45A) c.588+81G>A,-:0.5,-:NOT_FOUND,- 3 100277596 rs6441328 T C 25 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.6286,C/0.3714;Gene=TMEM45A/NM_018004.1/1;CC=c.588+163T>C;VC=Intron;DM=TMEM45A/DUF716;DM=TMEM45A/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:192:C,T:16:0:0:0:10,6:249,194:24.85,0.00:0.00,0.00:24.85,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:77.4,7.5:0,0:0,0:108,99:26,50:29,33:NM_018004.1(TMEM45A) c.588+163T>C,-:0.4,-:NOT_FOUND,- 3 100287764 rs28722928 T C 68 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.7502,C/0.2498;PC=0.999;Gene=TMEM45A/NM_018004.1/1;CC=c.687T>C;ProtCh=p.Y229=;VC=Silent;DM=TMEM45A/DUF716;DM=TMEM45A/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:46:22:0:0:23,23:713,727:68.32,0.00:40.26,0.00:28.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.5,6.0:0,0:0,0:67,79:84,72:35,38:NM_018004.1(TMEM45A) c.687T>C (p.(=)),-:0.25,-:0.196063,- 3 100287812 . G . . NT END=100295768;NT GT ./. 3 100287901 rs6763638 T G 27 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.524,G/0.476;Gene=TMEM45A/NM_018004.1/1;CC=c.734+90T>G;VC=Intron;DM=TMEM45A/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:17:1:0:0:8,9:278,269:26.54,0.00:1.82,0.00:24.72,0.00:0.99,0.00:0.65,0.00:0.99,0.00:60,60:40.0,11.0:0,0:0,0:70,98:80,53:24,23:NM_018004.1(TMEM45A) c.734+90T>G,-:0.5,-:NOT_FOUND,- 3 100295733 rs7427360 A G 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=34;DB;DBA=NA;PAF=A/0.5242,G/0.4758;Gene=TMEM45A/NM_018004.1/1;CC=c.735-36A>G;VC=Intron;DM=TMEM45A/DUF716 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:34:31:0:0:18,16:589,551:0.00,52.52:0.00,44.92:0.00,7.61:0.00,1.00:0.00,1.00:0.00,1.00:60,60:11.4,36.7:0,0:0,0:72,51:77,88:30,27:-,NM_018004.1(TMEM45A) c.735-36A>G:-,0.5:-,0.538751 3 100295863 . C . . NT END=100328700;NT GT ./. 3 100295909 rs5851214 A ATTGTCT 40 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.7498,ATTGTCT/0.2502;NP=583;Gene=TMEM45A/NM_018004.1/1;CC=c.*51_*52insCTTTGT;VC=3UTR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ATTGTCT:25:7:13:0:12,13:361,417:0.00,40.38:0.00,8.31:0.00,32.08:0.00,1.00:0.00,0.99:0.00,1.00:60,70:23.3,0.0:0,0:0,0:124,92:19,59:22,29:-,NM_018004.1(TMEM45A) c.*51_*52insCTTTGT:-,0.24:-,0.194031 3 100328816 . G . . NT END=100348441;NT GT ./. 3 100348556 . G . . NT END=100349548;NT GT ./. 3 100349654 . G . . NT END=100352108;NT GT ./. 3 100352222 . G . . NT END=100354383;NT GT ./. 3 100354075 rs10662752 A C,ACC 11 end,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2698,ACC/0.7302;NP=2;PC=0.003 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:23:C,ACC:4:4:3:0:1,3:29,100:2.78,11.06:2.78,11.06:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:65.0,23.3:0,0:0,0:0,38:151,113:0,9:NM_032787.2(GPR128) c.448-446A>C,NM_032787.2(GPR128) c.448-446_448-445insCC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100354170 rs10755119 A G 35 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3089,G/0.6911;Gene=ADGRG7/NM_032787.2/1;CC=c.448-351A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:311:35.39:35.39:0.00:1.00:1.00:0.00:60:45.2:0:0:40:111:19:NM_032787.2(GPR128) c.448-351A>G,NM_032787.2(GPR128) c.448-351A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 3 100354671 . G . . NT END=100356145;NT GT ./. 3 100354683 rs1520652 G A 203 nt VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=G/0.255,A/0.745;Gene=ADGRG7/NM_032787.2/1;CC=c.597+13G>A;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.-41+13G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:158:A:56:16:0:0:56:1764:203.07:41.29:161.78:1.00:1.00:1.00:60:58.1:0:0:119:30:27:NM_032787.2(GPR128) c.597+13G>A,NM_032787.2(GPR128) c.597+13G>A:0.72,0.72:0.609351,0.609351 3 100354698 rs1718281 T A 154 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=T/0.1913,A/0.8087;PC=0.004;Gene=ADGRG7/NM_032787.2/1;CC=c.597+28T>A;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.-41+28T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:A:42:10:0:0:42:1339:153.84:26.89:126.95:1.00:1.00:1.00:60:65.1:0:0:95:52:38:NM_032787.2(GPR128) c.597+28T>A,NM_032787.2(GPR128) c.597+28T>A:0.79,0.79:0.810513,0.810513 3 100355858 rs6789364 C T 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2538,T/0.7462;PC=0.004;Gene=ADGRG7/NM_032787.2/1;CC=c.598-288C>T;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.-40-288C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:4:0:0:4:116:13.50:13.50:0.00:1.00:1.00:0.00:60:58.5:0:0:82:69:17:NM_032787.2(GPR128) c.598-288C>T,NM_032787.2(GPR128) c.598-288C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 3 100356027 rs4144968 C G 70 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.254,G/0.746;Gene=ADGRG7/NM_032787.2/1;CC=c.598-119C>G;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.-40-119C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:46:G:19:19:0:0:19:607:69.72:69.72:0.00:1.00:1.00:0.00:60:36.2:0:0:49:100:31:NM_032787.2(GPR128) c.598-119C>G,NM_032787.2(GPR128) c.598-119C>G:0.72,0.72:NOT_FOUND,NOT_FOUND 3 100356247 . G . . NT END=100362109;NT GT ./. 3 100362250 . G . . NT END=100362369;NT GT ./. 3 100362478 . G . . NT END=100364788;NT GT ./. 3 100364953 . G . . NT END=100365412;NT GT ./. 3 100365569 . G . . NT END=100368538;NT GT ./. 3 100365756 rs1145347 A C 29 nt VT=SNV;PN=G;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.09724,C/0.9028;Gene=ADGRG7/NM_032787.2/1;CC=c.1266+188A>C;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.381+188A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:1:0:0:8:249:28.69:2.04:26.65:1.00:1.00:1.00:60:59.1:0:0:75:76:22:NM_032787.2(GPR128) c.1266+188A>C,NM_032787.2(GPR128) c.1266+188A>C:0.91,0.91:NOT_FOUND,NOT_FOUND 3 100365799 rs1145346 C T 10 nt VT=SNV;PN=T;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.7224,T/0.2776;PC=0.001;Gene=ADGRG7/NM_032787.2/1;CC=c.1266+231C>T;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.381+231C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:C,T:7:1:0:0:4,3:127,103:0.00,9.66:0.00,-0.12:0.00,9.78:0.00,0.69:0.00,0.62:0.00,0.69:60,60:33.8,67.0:0,0:0,0:118,118:32,33:17,0:-,NM_032787.2(GPR128) c.1266+231C>T:-,0.32:-,NOT_FOUND 3 100365875 rs1145344 C T 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1232,T/0.8768;PC=0.019;Gene=ADGRG7/NM_032787.2/1;CC=c.1266+307C>T;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.381+307C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:T:4:0:0:0:4:89:10.74:0.00:10.74:1.00:0.00:1.00:60:120.8:0:0:23:127:7:NM_032787.2(GPR128) c.1266+307C>T,NM_032787.2(GPR128) c.1266+307C>T:0.89,0.89:NOT_FOUND,NOT_FOUND 3 100368425 rs7622958 A G 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4179,G/0.5821;PC=0.336;Gene=ADGRG7/NM_032787.2/1;CC=c.1267-114A>G;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.382-114A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:108:A,G:7:7:0:0:4,3:132,107:0.00,10.06:0.00,10.06:0.00,0.00:0.00,0.69:0.00,0.69:0.00,0.00:60,60:11.0,69.0:0,0:0,0:41,60:110,91:17,17:-,NM_032787.2(GPR128) c.1267-114A>G:-,0.56:-,NOT_FOUND 3 100368475 rs41272975 G A 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8596,A/0.1404;PC=0.002;Gene=ADGRG7/NM_032787.2/1;CC=c.1267-64G>A;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.382-64G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:170:A,G:17:17:0:0:6,11:177,355:15.77,0.00:15.35,0.00:0.42,0.00:0.95,0.00:0.95,0.00:0.75,0.00:60,60:59.0,44.0:0,0:0,0:52,32:99,119:43,27:NM_032787.2(GPR128) c.1267-64G>A,-:0.13,-:NOT_FOUND,- 3 100368546 rs61730367 A G 59 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.8784,G/0.1216;PC=0.001;Gene=ADGRG7/NM_032787.2/1;CC=c.1274A>G;ProtCh=p.K425R;VC=Missense;Gene=ADGRG7/NM_001308362.1/0;CC=c.389A>G;ProtCh=p.K130R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:23:0:0:9,17:277,582:0.00,59.05:0.00,41.83:0.00,17.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:21.6,51.9:0,0:0,0:36,63:107,84:16,24:-,NM_032787.2(GPR128) c.1274A>G (p.Lys425Arg):-,0.13:-,0.059828 3 100368652 . G . . NT END=100373678;NT GT ./. 3 100368692 rs1144118 A G 67 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.123,G/0.877;Gene=ADGRG7/NM_032787.2/1;CC=c.1379+41A>G;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.494+41A>G;VC=Intron;DM=ADGRG7/7tm_2;DM=ADGRG7/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:G:17:6:0:0:17:589:67.01:16.21:50.80:1.00:1.00:1.00:60:42.8:0:0:97:54:36:NM_032787.2(GPR128) c.1379+41A>G,NM_032787.2(GPR128) c.1379+41A>G:0.89,0.89:0.875423,0.875423 3 100374026 . G . . NT END=100374742;NT GT ./. 3 100374073 rs12636989 T C 30 nt VT=SNV;PN=A;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=T/0.8736,C/0.1264;PC=0.001;Gene=ADGRG7/NM_032787.2/1;CC=c.1726+48T>C;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.841+48T>C;VC=Intron;DM=ADGRG7/7tm_2;DM=ADGRG7/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:30:5:0:0:11,19:331,629:29.78,0.00:-0.59,0.00:30.38,0.00:1.00,0.00:0.89,0.00:1.00,0.00:60,60:52.1,3.9:0,0:0,0:44,105:107,46:43,29:NM_032787.2(GPR128) c.1726+48T>C,-:0.13,-:0.062723,- 3 100374121 rs12633554 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.874,T/0.126;Gene=ADGRG7/NM_032787.2/1;CC=c.1726+96C>T;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.841+96C>T;VC=Intron;DM=ADGRG7/7tm_2;DM=ADGRG7/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:23:1:0:0:13,10:395,346:0.00,32.53:0.00,-0.25:0.00,32.78:0.00,1.00:0.00,0.62:0.00,1.00:60,60:9.4,54.9:0,0:0,0:95,66:56,83:29,24:-,NM_032787.2(GPR128) c.1726+96C>T:-,0.13:-,NOT_FOUND 3 100374740 rs9866111 T C 39 nt VT=SNV;PN=A;NN=A;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.505,C/0.495;PC=0.006;Gene=ADGRG7/NM_032787.2/1;CC=c.1727-3T>C;VC=Intergenic;Gene=ADGRG7/NM_001308362.1/0;CC=c.842-3T>C;VC=Intergenic;DM=ADGRG7/7tm_2;DM=ADGRG7/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:33:0:0:13,27:439,865:39.16,0.00:21.41,0.00:17.75,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.2,6.7:0,0:0,0:51,39:91,105:27,19:NM_032787.2(GPR128) c.1727-3T>C,-:0.45,-:0.482467,- 3 100374840 . G . . NT END=100378531;NT GT ./. 3 100378688 . G . . NT END=100387792;NT GT ./. 3 100387709 rs1144110 A G 104 nt VT=SNV;PN=T;NN=C;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.1899,G/0.8101;PC=0.009;Gene=ADGRG7/NM_032787.2/1;CC=c.1980-84A>G;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.1095-84A>G;VC=Intron;DM=ADGRG7/7tm_2;DM=ADGRG7/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:G:27:25:0:0:27:916:104.43:86.14:18.30:1.00:1.00:1.00:60:43.3:0:0:48:103:26:NM_032787.2(GPR128) c.1980-84A>G,NM_032787.2(GPR128) c.1980-84A>G:0.8,0.8:NOT_FOUND,NOT_FOUND 3 100387950 . G . . NT END=100413587;NT GT ./. 3 100388140 rs1145337 A C 21 nt VT=SNV;PN=G;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.1775,C/0.8225;PC=0.010;Gene=ADGRG7/NM_032787.2/1;CC=c.2136+191A>C;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.1251+191A>C;VC=Intron;DM=ADGRG7/7tm_2;DM=ADGRG7/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:185:21.36:0.00:21.36:1.00:0.00:1.00:60:71.7:0:0:121:29:16:NM_032787.2(GPR128) c.2136+191A>C,NM_032787.2(GPR128) c.2136+191A>C:0.76,0.76:NOT_FOUND,NOT_FOUND 3 100388149 rs1145336 G T 18 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.1498,T/0.8502;PC=0.026;Gene=ADGRG7/NM_032787.2/1;CC=c.2136+200G>T;VC=Intron;Gene=ADGRG7/NM_001308362.1/0;CC=c.1251+200G>T;VC=Intron;DM=ADGRG7/7tm_2;DM=ADGRG7/7tm_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:153:17.68:0.00:17.68:1.00:0.00:1.00:60:79.8:0:0:126:23:9:NM_032787.2(GPR128) c.2136+200G>T,NM_032787.2(GPR128) c.2136+200G>T:0.79,0.79:NOT_FOUND,NOT_FOUND 3 100413846 . A . . NT END=100432529;NT GT ./. 3 100418594 rs1300266 A C 20 nt VT=SNV;PN=A;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.06969,C/0.9303;PC=0.002 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:3:0:0:5:173:19.68:6.02:13.67:1.00:1.00:1.00:60:67.2:0:0:106:40:37:chr3 g.100418593A>C (intergenic),chr3 g.100418593A>C (intergenic):0.94,0.94:NOT_FOUND,NOT_FOUND 3 100432714 . G . . NT END=100438818;NT GT ./. 3 100432752 rs9824942 A T 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.3319,T/0.6681;NP=500;PC=0.072;Gene=TFG/NM_001007565.2/1;CC=c.184+39A>T;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.184+39A>T;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.184+39A>T;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.184+39A>T;VC=Intron;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:36:A,T:22:9:0:2:3,19:78,546:0.00,59.82:0.00,26.14:0.00,33.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:48.3,74.4:2,0:0,0:63,119:66,32:12,6:-,NM_001007565.2(TFG) c.184+39A>T:-,NOT_FOUND:-,0.374359 3 100438784 rs1503838 A G 96 nt VT=SNV;PN=A;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.6901,G/0.3099;PC=0.034;Gene=TFG/NM_001007565.2/1;CC=c.185-35A>G;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.185-35A>G;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.185-35A>G;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.185-35A>G;VC=Intron;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:G:25:24:0:0:25:843:96.18:70.38:25.80:1.00:1.00:1.00:60:58.8:0:0:47:101:30:NM_001007565.2(TFG) c.185-35A>G,NM_001007565.2(TFG) c.185-35A>G:0.31,0.31:0.212658,0.212658 3 100438797 . CT C 19 idl,rn VT=DEL;SST=Single;DP=29;NP=102;Gene=TFG/NM_001007565.2/1;CC=c.185-10delT;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.185-10delT;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.185-10delT;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.185-10delT;VC=Intron;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:26:27:2:9:18,1,7:552,59,287:0.00,2.04,19.26:0.00,2.92,11.18:0.00,-0.88,8.08:0.00,0.00,0.96:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:56.8,117.0,41.7:0,1,2:0,0,0:38,65,19:102,83,132:13,42,13:-,NM_001007565.2(TFG) c.185-21delT:-,NOT_FOUND:-,NOT_FOUND 3 100438903 . G . . NT END=100447555;NT GT ./. 3 100447416 rs1143775 T A 42 nt VT=SNV;PN=T;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.1799,A/0.8201;Gene=TFG/NM_001007565.2/1;CC=c.269-140T>A;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.269-140T>A;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.269-140T>A;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.269-140T>A;VC=Intron;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:41:A,T:14:14:0:0:12,2:383,67:41.53,0.00:41.53,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:61.8,17.0:0,0:0,0:61,64:84,86:20,6:NM_001007565.2(TFG) c.269-140T>A,-:0.85,-:NOT_FOUND,- 3 100447446 rs184425200 T C 29 nt VT=SNV;PN=A;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.9944,C/0.005591;NP=34;PC=0.001;Gene=TFG/NM_001007565.2/1;CC=c.269-110T>C;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.269-110T>C;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.269-110T>C;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.269-110T>C;VC=Intron;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1;DM=TFG/PB1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:22:0:0:10,13:313,351:29.24,0.00:24.21,0.00:5.03,0.00:1.00,0.00:1.00,0.00:0.90,0.00:60,60:68.1,25.1:0,0:0,0:26,57:123,93:19,44:NM_001007565.2(TFG) c.269-110T>C,-:0.01,-:NOT_FOUND,- 3 100447703 . G . . NT END=100451351;NT GT ./. 3 100447791 rs114195574 G A 20 nt VT=SNV;PN=G;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9928,A/0.007188;Gene=TFG/NM_001007565.2/1;CC=c.415+89G>A;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.415+89G>A;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.415+89G>A;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.415+89G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:13:2:0:0:7,6:207,212:20.12,0.00:1.69,0.00:18.43,0.00:0.99,0.00:0.82,0.00:0.99,0.00:60,60:30.4,3.5:0,0:0,0:89,80:62,70:46,10:NM_001007565.2(TFG) c.415+89G>A,-:0.01,-:NOT_FOUND,- 3 100451517 . G . . NT END=100455419;NT GT ./. 3 100455139 rs3773921 T C 23 nt VT=SNV;PN=T;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6903,C/0.3097;Gene=TFG/NM_001007565.2/1;CC=c.581-281T>C;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.581-281T>C;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.581-281T>C;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.581-281T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:205:23.36:23.36:0.00:1.00:1.00:0.00:60:44.3:0:0:37:113:25:NM_001007565.2(TFG) c.581-281T>C,NM_001007565.2(TFG) c.581-281T>C:0.31,0.31:NOT_FOUND,NOT_FOUND 3 100455561 . G . . NT END=100463676;NT GT ./. 3 100455609 rs3830581 TG T 197 nt VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=TG/0.6897,T/0.3103;NP=1646;Gene=TFG/NM_001007565.2/1;CC=c.721+50delG;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.709+62delG;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.721+50delG;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.721+50delG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:126:TG,T:55:12:0:54:1,54:29,1739:0.00,197.49:0.00,27.42:0.00,170.07:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,5.3:0,0:0,0:148,107:3,43:0,23:NM_001007565.2(TFG) c.721+50delG,NM_001007565.2(TFG) c.721+50delG:0.31,0.31:0.224361,0.224361 3 100463651 rs377381727 TTG T 9 rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;NP=449;PC=0.005;Gene=TFG/NM_001007565.2/1;CC=c.722-8_722-7delGT;VC=Intron;Gene=TFG/NM_001195479.1/0;CC=c.710-8_710-7delGT;VC=Intron;Gene=TFG/NM_006070.5/0;CC=c.722-8_722-7delGT;VC=Intron;Gene=TFG/NM_001195478.1/0;CC=c.722-8_722-7delGT;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:11:TTG,T:51:43:0:4:47,4:1569,134:0.00,9.22:0.00,4.26:0.00,4.96:0.00,0.54:0.00,0.90:0.00,0.76:60,60:5.9,0.0:0,0:0,0:48,43:100,88:33,14:-,NM_001007565.2(TFG) c.722-25_722-24delTG:-,NOT_FOUND:-,NOT_FOUND 3 100463776 . G . . NT END=100466992;NT GT ./. 3 100467018 rs11353 T C 353 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=99;DB;DBA=NA;PAF=T/0.2869,C/0.7131;PC=1.000;Gene=TFG/NM_001007565.2/1;CC=c.846T>C;ProtCh=p.P282=;VC=Silent;Gene=TFG/NM_001195479.1/0;CC=c.834T>C;ProtCh=p.P278=;VC=Silent;Gene=TFG/NM_006070.5/0;CC=c.846T>C;ProtCh=p.P282=;VC=Silent;Gene=TFG/NM_001195478.1/0;CC=c.846T>C;ProtCh=p.P282=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:99:87:0:0:99:3057:352.63:239.88:112.75:1.00:1.00:1.00:60:38.0:0:0:51:99:27:NM_001007565.2(TFG) c.846T>C (p.(=)),NM_001007565.2(TFG) c.846T>C (p.(=)):0.66,0.66:0.655082,0.655082 3 100467376 . G . . NT END=100469338;NT GT ./. 3 100469455 . C . . NT END=100470395;NT GT ./. 3 100470519 . C . . NT END=100471630;NT GT ./. 3 100471793 . C . . NT END=100472662;NT GT ./. 3 100472693 . C . . NT END=100473455;NT GT ./. 3 100473536 . C . . NT END=100484684;NT GT ./. 3 100484794 . C . . NT END=100489586;NT GT ./. 3 100489797 . C . . NT END=100493448;NT GT ./. 3 100493518 . C . . NT END=100494050;NT GT ./. 3 100494180 . C . . NT END=100497127;NT GT ./. 3 100497221 . C . . NT END=100498975;NT GT ./. 3 100499054 . C . . NT END=100506571;NT GT ./. 3 100506647 . C . . NT END=100508297;NT GT ./. 3 100508361 . C . . NT END=100511534;NT GT ./. 3 100511613 . C . . NT END=100513766;NT GT ./. 3 100513848 . C . . NT END=100514647;NT GT ./. 3 100514390 rs1436940 T C 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=ABI3BP/NM_015429.3/1;CC=c.1808-543A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:143:16.68:16.68:0.00:1.00:1.00:0.00:60:32.8:0:0:54:97:7:NM_015429.3(ABI3BP) c.1808-543A>G,NM_015429.3(ABI3BP) c.1808-543A>G:1,1:NOT_FOUND,NOT_FOUND 3 100514696 . C . . NT END=100515252;NT GT ./. 3 100515313 . C . . NT END=100523635;NT GT ./. 3 100523711 . C . . NT END=100527004;NT GT ./. 3 100527080 . C . . NT END=100529255;NT GT ./. 3 100529322 . C . . NT END=100530073;NT GT ./. 3 100530122 . C . . NT END=100530571;NT GT ./. 3 100530644 . C . . NT END=100531310;NT GT ./. 3 100531368 . C . . NT END=100532504;NT GT ./. 3 100532580 . C . . NT END=100534755;NT GT ./. 3 100534816 . C . . NT END=100535531;NT GT ./. 3 100535613 . C . . NT END=100536279;NT GT ./. 3 100536340 . C . . NT END=100537368;NT GT ./. 3 100537426 . C . . NT END=100539063;NT GT ./. 3 100539148 . C . . NT END=100539897;NT GT ./. 3 100539958 . C . . NT END=100541432;NT GT ./. 3 100541517 . C . . NT END=100542301;NT GT ./. 3 100542359 . C . . NT END=100543701;NT GT ./. 3 100543786 . C . . NT END=100544628;NT GT ./. 3 100544689 . C . . NT END=100547236;NT GT ./. 3 100547297 . C . . NT END=100548424;NT GT ./. 3 100548509 . C . . NT END=100549421;NT GT ./. 3 100549479 . C . . NT END=100551107;NT GT ./. 3 100551195 . C . . NT END=100551968;NT GT ./. 3 100552002 . C . . NT END=100553527;NT GT ./. 3 100553489 rs147409573 A G 89 nt VT=SNV;PN=A;NN=T;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.993,G/0.006989;NP=3;Gene=ABI3BP/NM_015429.3/1;CC=c.1597+11727T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:40:0:0:16,26:492,887:0.00,88.98:0.00,70.31:0.00,18.67:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.6,35.8:0,0:0,0:22,39:127,106:17,27:-,NM_015429.3(ABI3BP) c.1597+11727T>C:-,0.01:-,NOT_FOUND 3 100553618 . C . . NT END=100554444;NT GT ./. 3 100554505 . C . . NT END=100555967;NT GT ./. 3 100556016 . C . . NT END=100557053;NT GT ./. 3 100557129 . C . . NT END=100557245;NT GT ./. 3 100557309 . C . . NT END=100558412;NT GT ./. 3 100558461 . C . . NT END=100558915;NT GT ./. 3 100559009 . C . . NT END=100559663;NT GT ./. 3 100559703 . C . . NT END=100560841;NT GT ./. 3 100560884 . C . . NT END=100562478;NT GT ./. 3 100562386 rs376785330 TGAGA T 7 idl,rn VT=DEL;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=15;Gene=ABI3BP/NM_015429.3/1;CC=c.1597+2826_1597+2829delTCTC;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:A,TGAGA,T:37:30:0:9:1,33,3:31,982,222:1.61,0.00,6.84:-0.21,0.00,1.95:1.82,0.00,4.89:0.00,0.00,0.36:0.00,0.00,0.78:0.00,0.00,0.73:60,60,60:93.0,55.0,21.3:0,0,4:0,0,0:67,69,25:84,74,105:0,22,15:-,NM_015429.3(ABI3BP) c.1597+2826_1597+2829delTCTC:-,NOT_FOUND:-,NOT_FOUND 3 100562388 rs5021814 A T 62 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=NA;NP=41;Gene=ABI3BP/NM_015429.3/1;CC=c.1597+2828T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:32:24:0:11:11,21:340,608:0.00,61.85:0.00,34.92:0.00,26.93:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.5,65.7:1,0:0,0:62,78:89,57:15,23:-,NM_015429.3(ABI3BP) c.1597+2828T>A:-,NOT_FOUND:-,NOT_FOUND 3 100562390 . A T 17 idl,nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;NP=2;Gene=ABI3BP/NM_015429.3/1;CC=c.1597+2826T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:A,T:37:29:0:6:30,7:937,217:0.00,17.25:0.00,9.68:0.00,7.57:0.00,0.94:0.00,0.99:0.00,0.97:60,60:42.5,82.9:4,1:0,0:70,57:76,86:20,14:-,NM_015429.3(ABI3BP) c.1597+2826T>A:-,NOT_FOUND:-,NOT_FOUND 3 100563323 . C . . NT END=100565215;NT GT ./. 3 100565291 . C . . NT END=100566445;NT GT ./. 3 100566518 . C . . NT END=100567644;NT GT ./. 3 100567720 . C . . NT END=100568888;NT GT ./. 3 100568964 . C . . NT END=100569503;NT GT ./. 3 100569452 . A AT 25 sb,rn VT=INS;SST=Single;DP=14;NP=18;PC=0.992;Gene=ABI3BP/NM_015429.3/1;CC=c.1300+51dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AT:14:13:8:0:6,8:198,256:0.00,25.26:0.00,26.00:0.00,-0.74:0.00,1.00:0.00,1.00:0.00,0.93:60,60:17.5,23.9:0,0:0,0:71,34:79,116:39,21:-,NM_015429.3(ABI3BP) c.1300+51_1300+52insA:-,NOT_FOUND:-,NOT_FOUND 3 100569579 . C . . NT END=100570718;NT GT ./. 3 100570785 . C . . NT END=100581154;NT GT ./. 3 100570787 . TA T 9 idl,rn VT=DEL;SST=Single;DP=54;NP=15;PC=0.001;Gene=ABI3BP/NM_015429.3/1;CC=c.1160-4delT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:35:A,TA,I,T:49:30:5:8:2,39,3,5:38,1136,161,229:1.47,0.00,6.51,8.61:-0.29,0.00,0.83,0.48:1.75,0.00,5.68,8.13:0.00,0.00,0.00,0.72:0.00,0.00,0.00,0.86:0.00,0.00,0.00,0.93:60,60,60,60:19.0,26.1,55.3,17.2:0,0,2,3:0,0,0,0:0,74,83,72:151,72,68,71:0,25,32,28:-,NM_015429.3(ABI3BP) c.1160-4delT:-,NOT_FOUND:-,NOT_FOUND 3 100581230 . C . . NT END=100581681;NT GT ./. 3 100581261 rs540712302 AT A 6 rn VT=DEL;SST=Single;DP=31;DB;DBA=NA;PAF=AT/0.5964,A/0.4036;DB;DBA=NA;PAF=AT/0.5964,A/0.4036;NP=196;PC=0.005;Gene=ABI3BP/NM_015429.3/1;CC=c.1085-33delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:AT,A:31:18:0:3:28,3:907,92:0.00,6.36:0.00,0.97:0.00,5.39:0.00,0.42:0.00,0.74:0.00,0.85:60,60:5.8,0.0:0,0:0,0:117,66:27,85:21,34:-,NM_015429.3(ABI3BP) c.1085-33delA:-,NOT_FOUND:-,NOT_FOUND 3 100581754 . C . . NT END=100582845;NT GT ./. 3 100582921 . C . . NT END=100583676;NT GT ./. 3 100583651 . G GC 6 nt VT=INS;SST=Single;DP=20;Gene=ABI3BP/NM_015429.3/1;CC=c.1084+25_1084+26insG;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:52:G,GC,D:20:20:3:1:16,3,1:504,86,33:0.00,6.44,2.12:0.00,3.70,2.19:0.00,2.74,-0.07:0.00,0.50,0.00:0.00,0.50,0.00:0.00,0.68,0.00:60,60,60:13.1,33.7,0.0:0,0,0:0,0,0:44,47,31:103,94,119:27,8,0:-,NM_015429.3(ABI3BP) c.1084+25_1084+26insG:-,NOT_FOUND:-,NOT_FOUND 3 100583752 . C . . NT END=100585722;NT GT ./. 3 100585801 . C . . NT END=100593684;NT GT ./. 3 100593778 . C . . NT END=100594351;NT GT ./. 3 100594424 . C . . NT END=100595355;NT GT ./. 3 100595405 . C . . NT END=100604379;NT GT ./. 3 100595669 rs5851232 CA C 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=CA/0.3616,C/0.6384;NP=45;PC=0.002;Gene=ABI3BP/NM_015429.3/1;CC=c.718-266delT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:CA,C:4:1:0:3:1,3:29,94:0.00,9.85:0.00,-0.30:0.00,10.15:0.00,0.85:0.00,0.83:0.00,0.85:60,60:22.0,23.7:0,0:0,0:43,116:108,35:0,11:-,NM_015429.3(ABI3BP) c.718-266delT:-,NOT_FOUND:-,NOT_FOUND 3 100604433 . C . . NT END=100604985;NT GT ./. 3 100605168 . C . . NT END=100617605;NT GT ./. 3 100605206 rs1987384 A G 44 nt VT=SNV;PN=G;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=A/0.2714,G/0.7286;PC=0.001;Gene=ABI3BP/NM_015429.3/1;CC=c.483-39T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:37:10:0:0:21,16:673,472:0.00,43.82:0.00,5.13:0.00,38.70:0.00,1.00:0.00,0.99:0.00,1.00:60,60:5.0,30.1:0,0:0,0:107,98:44,52:29,19:-,NM_015429.3(ABI3BP) c.483-39T>C:-,0.76:-,0.771758 3 100617680 rs2245370 C T 147 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=90;DB;DBA=NA;PAF=C/0.272,A/.,T/0.728;PC=0.001;Gene=ABI3BP/NM_015429.3/1;CC=c.408G>A;ProtCh=p.S136=;VC=Silent;DM=ABI3BP/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:90:67:0:0:46,44:1424,1534:0.00,147.32:0.00,79.68:0.00,67.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.1,37.8:0,0:0,0:65,85:83,59:28,20:-,NM_015429.3(ABI3BP) c.408G>A (p.(=)):-,0.75:-,0.561538 3 100617739 . C . . NT END=100621461;NT GT ./. 3 100621426 rs2576365 C A 111 nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.1174,A/0.8826,G/.;PC=0.002;Gene=ABI3BP/NM_015429.3/1;CC=c.349+36G>T;VC=Intron;DM=ABI3BP/fn3;DM=ABI3BP/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:A:30:24:0:0:30:968:111.10:66.58:44.52:1.00:1.00:1.00:60:36.6:0:0:34:114:18:NM_015429.3(ABI3BP) c.349+36G>T,NM_015429.3(ABI3BP) c.349+36G>T:0.88,0.88:0.831313,0.831313 3 100621532 . T . . NT END=100645145;NT GT ./. 3 100630604 rs2576388 T C 59 nt VT=SNV;PN=G;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.01617,C/0.9838;PC=0.971;Gene=ABI3BP/NM_015429.3/1;CC=c.281-9074A>G;VC=Intron;DM=ABI3BP/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:14:0:0:15:521:59.25:51.10:8.15:1.00:1.00:1.00:60:35.5:0:0:32:119:28:NM_015429.3(ABI3BP) c.281-9074A>G,NM_015429.3(ABI3BP) c.281-9074A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 100645326 . C . . NT END=100712149;NT GT ./. 3 100645475 rs2304513 G T 21 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.9121,T/0.08786;Gene=ABI3BP/NM_015429.3/1;CC=c.101-150C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:16:0:0:0:8,8:262,220:0.00,20.96:0.00,0.00:0.00,20.96:0.00,1.00:0.00,0.00:0.00,1.00:60,60:9.9,55.0:0,0:0,0:101,118:50,32:29,21:-,NM_015429.3(ABI3BP) c.101-150C>A:-,0.1:-,NOT_FOUND 3 100675038 . CA C,CAA 7 idl,nt VT=DEL;SST=Single;DP=5;NP=3;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:55:CA,CAA,C:5:5:2:2:1,2,2:12,67,67:0.00,6.64,6.64:0.00,6.64,6.64:0.00,0.00,0.00:0.00,0.00,0.46:0.00,0.00,0.46:0.00,0.00,0.00:60,60,60:0.0,21.5,16.0:0,0,0:0,0,0:63,82,52:62,68,97:0,45,37:NM_015429.3(ABI3BP) c.101-29714delT,NM_015429.3(ABI3BP) c.101-29714dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100712250 . G . . NT END=100945812;NT GT ./. 3 100756360 rs539175399 A ATG 11 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.9603,G/0.03974;NP=1;NP=3;NP=50;NP=7;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATG:4:4:3:0:1,3:33,101:0.00,10.55:0.00,6.80:0.00,3.75:0.00,0.85:0.00,0.85:0.00,0.95:60,60:49.0,21.3:0,0:0,0:94,54:57,97:0,18:-,chr3 g.100756360_100756361insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 100820132 rs66618654 TACAC T 10 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=TACAC/0.4688,T/0.5312;DB;DBA=NA;PAF=TACAC/0.4688,T/0.5312;NP=107;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:17:TACAC,T:4:2:0:3:1,3:22,94:0.00,9.86:0.00,3.15:0.00,6.70:0.00,0.85:0.00,0.95:0.00,0.95:60,60:0.0,7.3:0,0:0,0:142,50:9,100:0,15:-,chr3 g.100820133_100820136delACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 100879243 . CGTGT C,CGTGTGTGT 7 idl,nt VT=INS;SST=Single;DP=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:29:CGTGTGTGT,C:3:3:3:2:2,1:94,33:6.75,3.18:3.38,3.18:3.38,0.00:0.51,0.00:0.89,0.00:0.67,0.00:60,60:115.5,0.0:1,0:0,0:16,87:134,64:6,0:chr3 g.100879244_100879247delGTGT (intergenic),chr3 g.100879244GT[4] (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100945826 . C . . NT END=100947640;NT GT ./. 3 100945983 rs486352 A T 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.3526,T/0.6474;Gene=IMPG2/NM_016247.3/1;CC=c.3714-158T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:8:A,T:12:0:0:0:1,11:34,365:0.00,40.25:0.00,0.00:0.00,40.25:0.00,1.00:0.00,0.00:0.00,1.00:60,60:0.0,34.2:1,0:0,0:93,107:58,44:0,25:-,NM_016247.3(IMPG2) c.3714-158T>A:-,0.65:-,NOT_FOUND 3 100947721 . C . . NT END=100948223;NT GT ./. 3 100947982 rs397773067 CA C,CAA 18 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CA/0.3361,C/0.6639;DB;DBA=NA;PAF=CA/0.3361,C/0.6639;NP=8;PC=0.006 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:19:CAA,C:6:7:1:6:1,5:28,197:2.43,18.16:2.43,18.16:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:64.0,21.6:0,1:0,0:11,31:140,119:0,17:NM_016247.3(IMPG2) c.3633+241delT,NM_016247.3(IMPG2) c.3633+241dupT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 100948435 . C . . NT END=100949800;NT GT ./. 3 100949842 rs348867 G A 241 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=G/0.1871,A/0.8129;PC=0.998;Gene=IMPG2/NM_016247.3/1;CC=c.3381C>T;ProtCh=p.L1127=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:66:51:0:0:66:2101:241.43:161.58:79.85:1.00:1.00:1.00:60:38.8:0:0:58:89:31:NM_016247.3(IMPG2) c.3381C>T (p.(=)),NM_016247.3(IMPG2) c.3381C>T (p.(=)):0.82,0.82:0.795479,0.795479 3 100949990 . C . . NT END=100951624;NT GT ./. 3 100950161 rs348868 A C 95 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=A/0.1859,C/0.8141;Gene=IMPG2/NM_016247.3/1;CC=c.3234-172T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:C:27:0:0:0:27:819:94.64:0.00:94.64:1.00:0.00:1.00:60:34.9:0:0:88:63:23:NM_016247.3(IMPG2) c.3234-172T>G,NM_016247.3(IMPG2) c.3234-172T>G:0.82,0.82:NOT_FOUND,NOT_FOUND 3 100951836 . C . . NT END=100961531;NT GT ./. 3 100961752 . C . . NT END=100962372;NT GT ./. 3 100963154 rs571391 G A 285 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=82;DB;DBA=in-clinvar;PAF=G/0.3508,A/0.6492;PC=0.002;Gene=IMPG2/NM_016247.3/1;CC=c.2021C>T;ProtCh=p.T674I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:82:55:0:0:82:2468:285.41:161.96:123.45:1.00:1.00:1.00:60:40.5:0:0:67:82:29:NM_016247.3(IMPG2) c.2021C>T (p.Thr674Ile),NM_016247.3(IMPG2) c.2021C>T (p.Thr674Ile):0.67,0.67:0.635015,0.635015 3 100963632 . C . . NT END=100964645;NT GT ./. 3 100963761 rs487623 T C 43 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=T/0.6334,C/0.3666;PC=0.001;Gene=IMPG2/NM_016247.3/1;CC=c.1544-130A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:C:12:0:0:0:12:370:42.69:0.00:42.69:1.00:0.00:1.00:60:30.8:0:0:45:105:18:NM_016247.3(IMPG2) c.1544-130A>G,NM_016247.3(IMPG2) c.1544-130A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 3 100964950 . C . . NT END=100972539;NT GT ./. 3 100972626 . C . . NT END=100976372;NT GT ./. 3 100976219 rs348885 C G 67 nt VT=SNV;PN=G;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.3287,G/0.6713;Gene=IMPG2/NM_016247.3/1;CC=c.1153+154G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:G:20:20:0:0:20:571:66.51:66.51:0.00:1.00:1.00:0.00:60:34.6:0:0:38:112:29:NM_016247.3(IMPG2) c.1153+154G>C,NM_016247.3(IMPG2) c.1153+154G>C:0.69,0.69:NOT_FOUND,NOT_FOUND 3 100976618 . C . . NT END=100986354;NT GT ./. 3 100976755 rs7613046 G C 47 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.1649,C/0.8351;Gene=IMPG2/NM_016247.3/1;CC=c.909-138C>G;VC=Intron;DM=IMPG2/SEA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:1:0:0:13:412:47.39:1.94:45.46:1.00:1.00:1.00:60:39.1:0:0:94:57:39:NM_016247.3(IMPG2) c.909-138C>G,NM_016247.3(IMPG2) c.909-138C>G:0.83,0.83:NOT_FOUND,NOT_FOUND 3 100986376 . C . . NT END=100988358;NT GT ./. 3 100988418 . C . . NT END=100992424;NT GT ./. 3 100988687 rs693428 G C 15 nt VT=SNV;PN=A;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2592,C/0.7408;Gene=IMPG2/NM_016247.3/1;CC=c.829-270C>G;VC=Intron;DM=IMPG2/SEA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:35.0:0:0:82:68:23:NM_016247.3(IMPG2) c.829-270C>G,NM_016247.3(IMPG2) c.829-270C>G:0.76,0.76:NOT_FOUND,NOT_FOUND 3 100992385 rs348866 C T 98 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=C/0.642,T/0.358;Gene=IMPG2/NM_016247.3/1;CC=c.828+40G>A;VC=Intron;DM=IMPG2/SEA GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:T:29:25:0:0:29:845:98.20:71.06:27.14:1.00:1.00:1.00:60:36.4:0:0:48:100:37:NM_016247.3(IMPG2) c.828+40G>A,NM_016247.3(IMPG2) c.828+40G>A:0.37,0.37:0.401738,0.401738 3 100992587 . C . . NT END=100994506;NT GT ./. 3 100994497 rs533852 C T 90 nt VT=SNV;PN=G;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=C/0.6424,T/0.3576;PC=0.002;Gene=IMPG2/NM_016247.3/1;CC=c.666+10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:T:25:20:0:0:25:780:89.89:55.36:34.53:1.00:1.00:1.00:60:33.7:0:0:45:103:29:NM_016247.3(IMPG2) c.666+10G>A,NM_016247.3(IMPG2) c.666+10G>A:0.37,0.37:0.402045,0.402045 3 100994590 . C . . NT END=100995507;NT GT ./. 3 100995558 . C . . NT END=101010322;NT GT ./. 3 101010355 . C . . NT END=101022989;NT GT ./. 3 101010499 rs538834 G T 19 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2622,T/0.7378;Gene=IMPG2/NM_016247.3/1;CC=c.502-145C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:169:19.28:0.00:19.28:1.00:0.00:1.00:60:43.8:0:0:130:21:20:NM_016247.3(IMPG2) c.502-145C>A,NM_016247.3(IMPG2) c.502-145C>A:0.76,0.76:NOT_FOUND,NOT_FOUND 3 101023157 . C . . NT END=101038427;NT GT ./. 3 101038297 rs545322 G A 41 sb,nt VT=SNV;PN=A;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.2624,A/0.7376;PC=0.001;Gene=IMPG2/NM_016247.3/1;CC=c.334+131C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:A:11:11:0:0:11:353:40.54:38.66:1.89:1.00:1.00:1.00:60:76.6:0:0:28:123:17:NM_016247.3(IMPG2) c.334+131C>T,NM_016247.3(IMPG2) c.334+131C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 3 101038339 rs546090 G A 100 nt VT=SNV;PN=C;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.2554,A/0.7446;Gene=IMPG2/NM_016247.3/1;CC=c.334+89C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:27:0:0:27:868:99.62:87.84:11.78:1.00:1.00:1.00:60:53.6:0:0:39:111:29:NM_016247.3(IMPG2) c.334+89C>T,NM_016247.3(IMPG2) c.334+89C>T:0.76,0.76:NOT_FOUND,NOT_FOUND 3 101038677 . C . . NT END=101039131;NT GT ./. 3 101039022 rs113382606 AAGT A 39 nt VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=AAGT/0.2624,A/0.7376;DB;DBA=NA;PAF=AAGT/0.2624,A/0.7376;NP=1351;Gene=IMPG2/NM_016247.3/1;CC=c.85+107_85+109delACT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:AAGT,A:12:10:0:11:1,11:28,357:0.00,39.45:0.00,31.97:0.00,7.48:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,18.8:0,0:0,0:148,67:1,83:0,34:NM_016247.3(IMPG2) c.85+107_85+109delACT,NM_016247.3(IMPG2) c.85+107_85+109delACT:0.75,0.75:NOT_FOUND,NOT_FOUND 3 101039107 rs573908 A C 53 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.2618,C/0.7382;PC=0.026;Gene=IMPG2/NM_016247.3/1;CC=c.85+25T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:12:0:0:14:462:52.88:35.03:17.85:1.00:1.00:1.00:60:33.8:0:0:34:116:19:NM_016247.3(IMPG2) c.85+25T>G,NM_016247.3(IMPG2) c.85+25T>G:0.76,0.76:0.699985,0.699985 3 101039217 . T . . NT END=101044786;NT GT ./. 3 101044925 . C . . NT END=101046509;NT GT ./. 3 101046661 . C . . NT END=101047321;NT GT ./. 3 101047391 . C . . NT END=101047489;NT GT ./. 3 101047534 . C . . NT END=101049177;NT GT ./. 3 101049231 . C . . NT END=101050828;NT GT ./. 3 101050954 . C . . NT END=101051613;NT GT ./. 3 101051707 . C . . NT END=101056352;NT GT ./. 3 101056476 . C . . NT END=101058938;NT GT ./. 3 101059056 . C . . NT END=101060489;NT GT ./. 3 101060624 . C . . NT END=101062529;NT GT ./. 3 101062799 . C . . NT END=101066715;NT GT ./. 3 101066717 rs2433031 T A 163 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=T/0.6989,A/0.3011;PC=1.000;Gene=SENP7/NM_001077203.2/0;CC=c.1641A>T;ProtCh=p.Q547H;VC=Missense;Gene=SENP7/NM_001282801.1/0;CC=c.1638A>T;ProtCh=p.Q546H;VC=Missense;Gene=SENP7/NM_001282802.1/0;CC=c.1737A>T;ProtCh=p.Q579H;VC=Missense;Gene=SENP7/NM_001282803.1/0;CC=c.1344A>T;ProtCh=p.Q448H;VC=Missense;Gene=SENP7/NM_020654.4/1;CC=c.1836A>T;ProtCh=p.Q612H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:A:44:36:0:0:44:1416:162.52:107.48:55.05:1.00:1.00:1.00:60:39.6:0:0:46:97:27:NM_020654.3(SENP7) c.1836A>T (p.Gln612His),NM_020654.3(SENP7) c.1836A>T (p.Gln612His):0.31,0.31:0.319594,0.319594 3 101066896 . C . . NT END=101070461;NT GT ./. 3 101066992 rs2553421 A T 36 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.2206,T/0.7794;PC=0.015;Gene=SENP7/NM_001077203.2/0;CC=c.1463-97T>A;VC=Intron;Gene=SENP7/NM_001282801.1/0;CC=c.1460-97T>A;VC=Intron;Gene=SENP7/NM_001282802.1/0;CC=c.1559-97T>A;VC=Intron;Gene=SENP7/NM_001282803.1/0;CC=c.1166-97T>A;VC=Intron;Gene=SENP7/NM_020654.4/1;CC=c.1658-97T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:1:0:1:11:310:36.17:1.89:34.28:1.00:1.00:1.00:60:51.7:0:0:109:38:21:NM_020654.3(SENP7) c.1658-97T>A,NM_020654.3(SENP7) c.1658-97T>A:0.86,0.86:NOT_FOUND,NOT_FOUND 3 101070496 . C . . NT END=101080558;NT GT ./. 3 101080706 . C . . NT END=101081973;NT GT ./. 3 101082037 . T . . NT END=101083677;NT GT ./. 3 101083836 . C . . NT END=101085273;NT GT ./. 3 101083864 rs199932025 G GTTTA 32 rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.9633,GTTTA/0.03674,GTTTATTTA/.;NP=19;PC=0.113;Gene=SENP7/NM_001077203.2/0;CC=c.1124-30_1124-29insTAAA;VC=Intron;Gene=SENP7/NM_001282801.1/0;CC=c.1121-30_1121-29insTAAA;VC=Intron;Gene=SENP7/NM_001282802.1/0;CC=c.1220-30_1220-29insTAAA;VC=Intron;Gene=SENP7/NM_001282803.1/0;CC=c.827-30_827-29insTAAA;VC=Intron;Gene=SENP7/NM_020654.4/1;CC=c.1319-30_1319-29insTAAA;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GTTTA,D:41:19:12:1:28,12,1:915,370,33:0.00,32.11,1.87:0.00,14.19,-0.07:0.00,17.93,1.94:0.00,1.00,0.00:0.00,0.99,0.00:0.00,1.00,0.00:60,70,60:9.8,8.2,0.0:0,0,0:0,0,0:116,97,105:26,52,46:16,16,0:-,NM_020654.3(SENP7) c.1319-30_1319-29insTAAA:-,0.05:-,0.039953 3 101085614 . C . . NT END=101086673;NT GT ./. 3 101085683 rs58636547 TAAAAA T 42 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=TAAAAA/0.5409,T/0.4591;DB;DBA=NA;PAF=TAAAAA/0.5409,T/0.4591;NP=1308;PC=0.039;Gene=SENP7/NM_001077203.2/0;CC=c.784-75_784-71delTTTTT;VC=Intron;Gene=SENP7/NM_001282801.1/0;CC=c.781-75_781-71delTTTTT;VC=Intron;Gene=SENP7/NM_001282802.1/0;CC=c.880-75_880-71delTTTTT;VC=Intron;Gene=SENP7/NM_001282803.1/0;CC=c.487-75_487-71delTTTTT;VC=Intron;Gene=SENP7/NM_020654.4/1;CC=c.979-75_979-71delTTTTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:TAAAAA,T:14:4:0:12:2,12:60,387:0.00,41.93:0.00,9.37:0.00,32.56:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,11.1:0,0:0,0:144,127:3,21:5,10:-,NM_020654.3(SENP7) c.979-75_979-71delTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 101086856 . C . . NT END=101090851;NT GT ./. 3 101090971 . C . . NT END=101117704;NT GT ./. 3 101117900 . C . . NT END=101136436;NT GT ./. 3 101136402 rs9859077 G C 91 nt VT=SNV;PN=T;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.7861,C/0.2139;PC=0.975;Gene=SENP7/NM_001077203.2/0;CC=c.482+35C>G;VC=Intron;Gene=SENP7/NM_001282801.1/0;CC=c.285-18503C>G;VC=Intron;Gene=SENP7/NM_001282802.1/0;CC=c.383+35C>G;VC=Intron;Gene=SENP7/NM_001282803.1/0;CC=c.185+41397C>G;VC=Intron;Gene=SENP7/NM_020654.4/1;CC=c.482+35C>G;VC=Intron;Gene=SENP7/NM_001282804.1/0;CC=c.383+35C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:66:C:26:22:0:0:26:784:90.57:72.82:17.75:1.00:1.00:1.00:60:36.4:0:0:47:100:24:NM_020654.3(SENP7) c.482+35C>G,NM_020654.3(SENP7) c.482+35C>G:0.25,0.25:0.247426,0.247426 3 101136635 . C . . NT END=101177798;NT GT ./. 3 101177897 . C . . NT END=101212716;NT GT ./. 3 101212813 . C . . NT END=101219913;NT GT ./. 3 101219964 . C . . NT END=101231934;NT GT ./. 3 101231975 . C . . NT END=101283625;NT GT ./. 3 101284838 . T . . NT END=101292996;NT GT ./. 3 101291956 rs56899303 A AACAC 12 sb,rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7975,AAAAA/.,AACAC/0.2025;DB;DBA=NA;PAF=NA;NP=100;NP=3;NP=6;PC=0.011;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,AACAC:5:2:4:0:1,4:34,112:0.00,12.02:0.00,1.39:0.00,10.63:0.00,0.96:0.00,0.97:0.00,0.96:60,60:36.0,15.5:0,0:0,0:133,36:17,99:0,16:-,NM_020357.1(PCNP) c.-18-u1086_-18-u1085insACAC:-,NOT_FOUND:-,NOT_FOUND 3 101293124 . G . . NT END=101298633;NT GT ./. 3 101295562 rs4683933 T C 293 nt VT=SNV;PN=G;NN=A;SST=Single;DP=77;DB;DBA=NA;PAF=T/0.618,C/0.382;PC=1.000;Gene=PCNP/NM_020357.1/1;CC=c.64+2439T>C;VC=Intron;DM=PCNP/PCNP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A,C:77:45:0:0:1,76:8,2572:0.08,292.94:0.00,136.99:0.08,155.95:0.00,1.00:0.00,1.00:0.00,1.00:55,60:121.0,65.9:0,0:0,0:100,70:51,78:0,41:NM_020357.1(PCNP) c.64+2439T>C,NM_020357.1(PCNP) c.64+2439T>C:0.38,0.38:NOT_FOUND,NOT_FOUND 3 101295584 rs4234491 C T 253 nt VT=SNV;PN=A;NN=G;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.1014,T/0.8986;PC=1.000;Gene=PCNP/NM_020357.1/1;CC=c.64+2461C>T;VC=Intron;DM=PCNP/PCNP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:69:40:0:0:69:2207:253.48:115.29:138.19:1.00:1.00:1.00:60:70.3:0:0:70:80:33:NM_020357.1(PCNP) c.64+2461C>T,NM_020357.1(PCNP) c.64+2461C>T:0.9,0.9:NOT_FOUND,NOT_FOUND 3 101298849 . G . . NT END=101304280;NT GT ./. 3 101299031 rs200226587 CAAT C 9 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=CAAT/0.6182,C/0.3818;DB;DBA=NA;PAF=CAAT/0.6182,C/0.3818;NP=448;Gene=PCNP/NM_020357.1/1;CC=c.279+186_279+188delTAA;VC=Intron;DM=PCNP/PCNP;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:CAAT,C:5:0:0:3:2,3:67,92:0.00,9.17:0.00,0.00:0.00,9.17:0.00,0.78:0.00,0.00:0.00,0.78:60,60:22.0,8.0:0,0:0,0:145,103:3,48:2,11:-,NM_020357.1(PCNP) c.279+184_279+186delAAT:-,0.39:-,NOT_FOUND 3 101304356 . G . . NT END=101309058;NT GT ./. 3 101304414 rs3804776 G T 62 nt VT=SNV;PN=A;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.6182,T/0.3818;Gene=PCNP/NM_020357.1/1;CC=c.354+59G>T;VC=Intron;DM=PCNP/PCNP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:5:0:0:17:535:61.58:11.38:50.20:1.00:1.00:1.00:60:34.5:0:0:72:79:33:NM_020357.1(PCNP) c.354+59G>T,NM_020357.1(PCNP) c.354+59G>T:0.39,0.39:0.39018,0.39018 3 101308846 rs6441614 G A 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.001198,A/0.9988;NP=1007;Gene=PCNP/NM_020357.1/1;CC=c.355-213G>A;VC=Intron;DM=PCNP/PCNP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:126:14.51:14.51:0.00:1.00:1.00:0.00:60:73.0:0:0:108:42:17:NM_020357.1(PCNP) c.355-213G>A,NM_020357.1(PCNP) c.355-213G>A:1,1:NOT_FOUND,NOT_FOUND 3 101309115 . G . . NT END=101311470;NT GT ./. 3 101311233 rs34744830 G A 17 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6182,A/0.3818;PC=0.008;Gene=PCNP/NM_020357.1/1;CC=c.411-238G>A;VC=Intron;DM=PCNP/PCNP GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:144:16.78:16.78:0.00:1.00:1.00:0.00:60:42.4:0:0:54:97:8:NM_020357.1(PCNP) c.411-238G>A,NM_020357.1(PCNP) c.411-238G>A:0.39,0.39:NOT_FOUND,NOT_FOUND 3 101311598 . A . . NT END=101370009;NT GT ./. 3 101318026 rs2114299 T G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6144,G/0.3856;PC=0.964 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:G,T:6:6:0:0:5,1:129,27:14.05,0.00:14.05,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:86.6,28.0:0,0:0,0:99,2:51,149:20,0:chr3 g.101318025T>G (intergenic),-:0.38,-:NOT_FOUND,- 3 101370528 . C . . NT END=101371339;NT GT ./. 3 101370529 rs66783735 TA T 47 idl,rn VT=DEL;SST=Single;DP=97;DB;DBA=NA;PAF=TA/0.5938,T/0.4062;DB;DBA=NA;PAF=TA/0.5938,T/0.4062;NP=17;PC=0.774;Gene=ZBTB11/NM_014415.3/1;CC=c.2645-3delT;VC=Intron;RN=18 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,TA,I,T:85:60:3:34:3,60,3,19:31,1788,100,904:0.03,0.00,6.10,47.18:-0.45,0.00,5.28,19.20:0.48,0.00,0.82,27.98:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:60,60,60,60:27.7,23.8,42.7,36.2:0,1,0,12:0,0,0,0:57,91,79,91:94,46,43,60:53,30,9,19:-,NM_014415.3(ZBTB11) c.2645-3delT:-,NOT_FOUND:-,NOT_FOUND 3 101371516 . C . . NT END=101371623;NT GT ./. 3 101371783 . C . . NT END=101373547;NT GT ./. 3 101373666 . C . . NT END=101374947;NT GT ./. 3 101375093 . C . . NT END=101378626;NT GT ./. 3 101378873 . C . . NT END=101383381;NT GT ./. 3 101383559 . C . . NT END=101383807;NT GT ./. 3 101384653 . C . . NT END=101389973;NT GT ./. 3 101389864 rs9837549 T C 67 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.001198,C/0.9988;NP=2287;PC=0.001;Gene=ZBTB11/NM_014415.3/1;CC=c.778+110A>G;VC=Intron;DM=ZBTB11/BTB GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:43:C:18:18:0:0:18:587:67.26:67.26:0.00:1.00:1.00:0.00:60:44.2:0:0:75:75:37:NM_014415.3(ZBTB11) c.778+110A>G,NM_014415.3(ZBTB11) c.778+110A>G:1,1:NOT_FOUND,NOT_FOUND 3 101390206 . C . . NT END=101390821;NT GT ./. 3 101391058 . C . . NT END=101395448;NT GT ./. 3 101395759 . C . . NT END=101399979;NT GT ./. 3 101399910 rs10712641 GA G 31 idl,rn VT=DEL;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=542;PC=0.002;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:15:GA,G:10:12:0:11:1,9:35,350:0.00,31.06:0.00,25.48:0.00,5.58:0.00,1.00:0.00,1.00:0.00,0.99:60,60:0.0,10.3:0,2:0,0:29,59:122,92:0,21:-,NM_014415.3(ZBTB11) c.-230-u3923delT:-,NOT_FOUND:-,NOT_FOUND 3 101400060 . C . . NT END=101401272;NT GT ./. 3 101401337 . C . . NT END=101401614;NT GT ./. 3 101401752 . C . . NT END=101404661;NT GT ./. 3 101404773 . C . . NT END=101405325;NT GT ./. 3 101404813 rs2303473 A G 89 nt VT=SNV;PN=C;NN=A;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.6617,G/0.3383;PC=0.001;Gene=RPL24/NM_000986.3/1;CC=c.82-41T>C;VC=Intron;DM=RPL24/Ribosomal_L24e;DM=RPL24/Ribosomal_L24e;DM=RPL24/Ribosomal_L24e GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:11:0:0:24:775:88.92:23.55:65.38:1.00:1.00:1.00:60:38.0:0:0:96:54:33:NM_000986.3(RPL24) c.82-41T>C,NM_000986.3(RPL24) c.82-41T>C:0.34,0.34:0.318671,0.318671 3 101405402 . C . . NT END=101405515;NT GT ./. 3 101405522 . G . . NT END=101443520;NT GT ./. 3 101443461 rs994573 T C 261 nt VT=SNV;PN=A;NN=T;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.001198,C/0.9988;NP=3427;PC=0.131;Gene=CEP97/NM_001303401.1/1;CC=c.-60T>C;VC=5UTR;Gene=CEP97/NM_024548.3/0;CC=c.-60T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:68:57:0:0:68:2284:260.79:174.55:86.24:1.00:1.00:1.00:60:41.6:0:0:40:110:20:NM_024548.2(CEP97) c.-27-u33T>C,NM_024548.2(CEP97) c.-27-u33T>C:1,1:0.996496,0.996496 3 101443564 . G . . NT END=101445437;NT GT ./. 3 101445581 . G . . NT END=101446226;NT GT ./. 3 101446386 . G . . NT END=101447679;NT GT ./. 3 101447782 . G . . NT END=101450683;NT GT ./. 3 101450798 . G . . NT END=101451331;NT GT ./. 3 101451499 . G . . NT END=101474273;NT GT ./. 3 101474439 . G . . NT END=101475906;NT GT ./. 3 101476041 . G . . NT END=101476477;NT GT ./. 3 101477268 . G . . NT END=101481328;NT GT ./. 3 101481405 . G . . NT END=101481952;NT GT ./. 3 101482031 . g . . NT END=101483690;NT GT ./. 3 101484335 rs2625282 G A 319 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=83;DB;DBA=NA;PAF=G/0.09505,A/0.905;PC=1.000;Gene=CEP97/NM_001303401.1/1;CC=c.2361G>A;ProtCh=p.Q787=;VC=Silent;Gene=CEP97/NM_024548.3/0;CC=c.2538G>A;ProtCh=p.Q846=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:A:83:42:0:0:83:2796:319.16:112.82:206.34:1.00:1.00:1.00:60:38.6:0:0:90:57:34:NM_024548.2(CEP97) c.=,NM_024548.2(CEP97) c.=:0.92,0.92:0.901799,0.901799 3 101484396 . C . . NT END=101504440;NT GT ./. 3 101504534 . G . . NT END=101520078;NT GT ./. 3 101504624 rs2625289 A C 114 nt VT=SNV;PN=G;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=A/0.09784,C/0.9022;PC=0.094;Gene=NXPE3/NM_145037.2/1;CC=c.93+91A>C;VC=Intron;Gene=NXPE3/NM_001134456.1/0;CC=c.93+91A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:80:C:30:2:0:0:30:993:113.58:4.08:109.51:1.00:1.00:1.00:60:42.1:0:0:110:41:28:NM_001134456.1(NXPE3) c.93+91A>C,NM_001134456.1(NXPE3) c.93+91A>C:0.92,0.92:NOT_FOUND,NOT_FOUND 3 101520834 . G . . NT END=101525896;NT GT ./. 3 101520971 . T TA 13 idl,rn VT=INS;SST=Single;DP=31;NP=2;PC=0.468;Gene=NXPE3/NM_145037.2/1;CC=c.848+149dupA;VC=Intron;Gene=NXPE3/NM_001134456.1/0;CC=c.848+149dupA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:71:T,TA,D:30:0:6:3:22,5,3:597,194,98:0.00,12.96,7.23:0.00,0.00,0.00:0.00,12.96,7.23:0.00,0.80,0.00:0.00,0.00,0.00:0.00,0.80,0.00:60,60,60:14.6,2.4,0.0:0,1,0:0,0,0:97,74,84:52,76,66:33,33,22:-,NM_001134456.1(NXPE3) c.848+138_848+139insA:-,NOT_FOUND:-,NOT_FOUND 3 101525971 . G . . NT END=101535638;NT GT ./. 3 101535846 . G . . NT END=101540247;NT GT ./. 3 101540387 rs35598292 T G 269 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=173;DB;DBA=NA;PAF=T/0.9886,G/0.01138;PC=0.014;Gene=NXPE3/NM_145037.2/1;CC=c.1269T>G;ProtCh=p.H423Q;VC=Missense;Gene=NXPE3/NM_001134456.1/0;CC=c.1269T>G;ProtCh=p.H423Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:173:112:0:0:85,88:2808,2833:269.23,0.00:147.32,0.00:121.90,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,4.2:0,0:0,0:77,70:74,64:33,37:NM_001134456.1(NXPE3) c.1269T>G (p.His423Gln),-:0.02,-:0.033677,- 3 101540799 . C . . NT END=101568472;NT GT ./. 3 101568762 . G . . NT END=101570928;NT GT ./. 3 101571069 . G . . NT END=101571581;NT GT ./. 3 101571550 rs587555 A G 127 nt VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.4916,G/0.5084;Gene=NFKBIZ/NM_001005474.2/1;CC=c.130-32A>G;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.430-32A>G;VC=Intron;DM=NFKBIZ/Ank_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:28:0:0:33:1116:127.31:106.08:21.23:1.00:1.00:1.00:60:51.7:0:0:58:93:39:NM_031419.3(NFKBIZ) c.430-32A>G,NM_031419.3(NFKBIZ) c.430-32A>G:0.55,0.55:0.575319,0.575319 3 101571613 . G . . NT END=101571729;NT GT ./. 3 101571834 . G . . NT END=101571934;NT GT ./. 3 101572708 . G . . NT END=101573421;NT GT ./. 3 101572822 rs2925334 C G 78 nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=NA;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1037+115C>G;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1337+115C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:G:21:0:0:0:21:681:78.09:0.00:78.09:1.00:0.00:1.00:60:45.9:0:0:95:51:27:NM_031419.3(NFKBIZ) c.1337+115C>G,NM_031419.3(NFKBIZ) c.1337+115C>G:0.66,0.66:NOT_FOUND,NOT_FOUND 3 101573345 . AT A 24 idl,rn VT=DEL;SST=Single;DP=19;NP=44;PC=0.017;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1038-62delT;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1338-62delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:AT,I,A:15:19:1:13:6,1,8:176,32,378:0.00,2.26,24.49:0.00,2.27,22.91:0.00,-0.01,1.58:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.72:60,60,60:47.5,35.0,42.5:0,0,4:0,0,0:73,21,56:75,130,95:45,0,42:-,NM_031419.3(NFKBIZ) c.1338-76delT:-,NOT_FOUND:-,NOT_FOUND 3 101573528 . G . . NT END=101573905;NT GT ./. 3 101574053 . G . . NT END=101574238;NT GT ./. 3 101574303 . G . . NT END=101574576;NT GT ./. 3 101574503 rs677011 G A 150 nt VT=SNV;PN=A;NN=C;SST=Single;DP=41;DB;DBA=NA;PAF=G/0.4579,A/0.5421;PC=0.001;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1355-74G>A;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1655-74G>A;VC=Intron;DM=NFKBIZ/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:113:A:41:32:0:0:41:1308:150.34:103.65:46.70:1.00:1.00:1.00:60:37.4:0:0:43:107:27:NM_031419.3(NFKBIZ) c.1655-74G>A,NM_031419.3(NFKBIZ) c.1655-74G>A:0.58,0.58:NOT_FOUND,NOT_FOUND 3 101574747 . G . . NT END=101575916;NT GT ./. 3 101575877 . AT A 12 idl,rn VT=DEL;SST=Single;DP=51;NP=369;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1525-23delT;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1825-23delT;VC=Intron;DM=NFKBIZ/Ank_2;DM=NFKBIZ/Ank_5;RN=17 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:AT,A:49:48:0:8:43,6:1245,231:0.00,12.08:0.00,10.55:0.00,1.54:0.00,0.85:0.00,0.99:0.00,0.81:60,60:46.9,62.3:7,2:0,0:23,40:124,110:17,22:-,NM_031419.3(NFKBIZ) c.1825-39delT:-,NOT_FOUND:-,NOT_FOUND 3 101575881 rs113782866 T TC 13 nt VT=INS;SST=Single;DP=52;DB;DBA=NA;PAF=NA;NP=126;PC=0.005;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1525-36_1525-35insC;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1825-36_1825-35insC;VC=Intron;DM=NFKBIZ/Ank_2;DM=NFKBIZ/Ank_5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:C,T,TC:52:49:6:0:1,45,6:33,1367,184:1.69,0.00,13.25:1.75,0.00,7.13:-0.07,0.00,6.12:0.00,0.00,0.84:0.00,0.00,0.99:0.00,0.00,0.80:60,60,60:44.0,51.7,8.2:0,8,0:0,0,0:3,21,29:148,123,121:0,15,11:-,NM_031419.3(NFKBIZ) c.1825-36_1825-35insC:-,NOT_FOUND:-,NOT_FOUND 3 101575882 rs595788 T C 120 nt VT=SNV;PN=T;NN=T;SST=Single;DP=52;DB;DBA=NA;PAF=NA;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1525-35T>C;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1825-35T>C;VC=Intron;DM=NFKBIZ/Ank_2;DM=NFKBIZ/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:52:49:0:0:1,35,16:7,1174,492:-0.05,120.32,0.00:-0.02,98.22,0.00:-0.03,22.09,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:148.0,47.9,29.2:0,0,15:0,0,0:61,21,36:90,122,114:0,14,16:NM_031419.3(NFKBIZ) c.1825-35T>C,-:0.57,-:NOT_FOUND,- 3 101575883 . T C 14 idl,nt VT=SNV;PN=T;NN=T;SST=Single;DP=53;PC=0.003;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1525-34T>C;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1825-34T>C;VC=Intron;DM=NFKBIZ/Ank_2;DM=NFKBIZ/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:77:C,T:53:50:0:0:6,47:192,1562:13.95,0.00:13.03,0.00:0.92,0.00:0.84,0.00:0.99,0.00:0.81,0.00:60,60:37.7,48.1:6,9:0,0:41,29:109,118:21,18:NM_031419.3(NFKBIZ) c.1825-34T>C,-:NOT_FOUND,-:NOT_FOUND,- 3 101576028 . G . . NT END=101576135;NT GT ./. 3 101576029 rs3217713 T TACTTTTAGAAAGCTTTAATAACC 125 nt VT=INS;SST=Single;DP=69;DB;DBA=NA;PAF=T/0.1887,TACTTCTAGAAAGCTTTAATAACC/.,TACTTTTAGAAAGCTTTAATAACC/0.8113,TACTTTTTAGAAAGCTTTAATAACC/.;PC=1.000;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1635+4_1635+5insTTTTAGAAAGCTTTAATAACCAC;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.1935+4_1935+5insTTTTAGAAAGCTTTAATAACCAC;VC=Intron;DM=NFKBIZ/Ank_2;DM=NFKBIZ/Ank_5;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T,TACTTTTAGAAAGCTTTAATAACC:69:41:40:0:1,28,40:29,880,1258:1.36,0.00,124.91:1.47,0.00,69.17:-0.10,0.00,55.74:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:44.0,4.3,3.7:0,1,0:0,0,0:0,124,55:150,3,96:0,7,19:-,NM_031419.3(NFKBIZ) c.1935+2_1935+3insACTTTTAGAAAGCTTTAATAACC:-,0.78:-,NOT_FOUND 3 101576175 rs14134 T C 454 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=122;DB;DBA=NA;PAF=T/0.4657,C/0.5343;PC=1.000;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1675T>C;ProtCh=p.L559=;VC=Silent;Gene=NFKBIZ/NM_031419.3/0;CC=c.1975T>C;ProtCh=p.L659=;VC=Silent;DM=NFKBIZ/Ank_2;DM=NFKBIZ/Ank_5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:122:100:0:0:122:3956:453.67:301.29:152.38:1.00:1.00:1.00:60:37.9:0:0:56:91:27:NM_031419.3(NFKBIZ) c.1975T>C (p.(=)),NM_031419.3(NFKBIZ) c.1975T>C (p.(=)):0.57,0.57:0.591727,0.591727 3 101576404 rs622122 A T 547 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=145;DB;DBA=NA;PAF=A/0.5074,T/0.4926;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1803+101A>T;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.2103+101A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:145:81:0:0:145:4776:546.56:243.58:302.98:1.00:1.00:1.00:60:39.4:0:0:83:66:35:NM_031419.3(NFKBIZ) c.2103+101A>T,NM_031419.3(NFKBIZ) c.2103+101A>T:0.53,0.53:NOT_FOUND,NOT_FOUND 3 101576762 rs599849 G A 136 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.5086,A/0.4914;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1803+459G>A;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.2103+459G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:A:38:19:0:0:38:1182:136.26:63.88:72.38:1.00:1.00:1.00:60:38.2:0:0:67:84:31:NM_031419.3(NFKBIZ) c.2103+459G>A,NM_031419.3(NFKBIZ) c.2103+459G>A:0.53,0.53:NOT_FOUND,NOT_FOUND 3 101577240 . a . . NT END=101578161;NT GT ./. 3 101577972 rs11443767 G GC 23 nt VT=INS;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4726,GC/0.5274;NP=584;PC=0.005;Gene=NFKBIZ/NM_001005474.2/1;CC=c.1804-190_1804-189insC;VC=Intron;Gene=NFKBIZ/NM_031419.3/0;CC=c.2104-190_2104-189insC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:GC:7:7:7:0:7:201:23.42:23.42:0.00:1.00:1.00:0.00:60:16.7:0:0:26:125:23:NM_031419.3(NFKBIZ) c.2104-190_2104-189insC,NM_031419.3(NFKBIZ) c.2104-190_2104-189insC:0.55,0.55:NOT_FOUND,NOT_FOUND 3 101578216 . C . . NT END=102153958;NT GT ./. 3 101704588 . AACACACACAC A 6 nt VT=DEL;SST=Single;DP=5;NP=1;PC=0.001;Gene=LOC152225/NR_026934.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:42:AACACACACAC,I,A:5:3:1:2:2,1,2:70,27,67:0.00,2.28,6.41:0.00,-0.10,3.16:0.00,2.38,3.26:0.00,0.00,0.46:0.00,0.00,0.80:0.00,0.00,0.87:60,60,60:0.0,0.0,0.0:0,0,0:0,0,0:94,7,53:47,144,97:13,0,31:-,NR_026934.1(LOC152225) n.269-8816_269-8807delACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 102153999 . G . . NT END=102155703;NT GT ./. 3 102155818 . G . . NT END=102157323;NT GT ./. 3 102157438 . G . . NT END=102171762;NT GT ./. 3 102161163 rs66486282 AAC A 14 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=58;Gene=ZPLD1/NM_175056.1/1;CC=c.154+3770_154+3771delCA;VC=Intron;DM=ZPLD1/Zona_pellucida;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:4:4:125:14.41:3.78:10.63:1.00:1.00:1.00:60:8.2:0:0:74:72:8:NM_175056.1(ZPLD1) c.154+3727_154+3728delAC,NM_175056.1(ZPLD1) c.154+3727_154+3728delAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 102171984 . G . . NT END=102175036;NT GT ./. 3 102175219 . G . . NT END=102176624;NT GT ./. 3 102175389 rs3077584 ATATC A 8 rn VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=35;PC=0.001;Gene=ZPLD1/NM_175056.1/1;CC=c.557+217_557+220delATCT;VC=Intron;DM=ZPLD1/Zona_pellucida;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:ATATC,A:10:0:0:4:7,3:210,130:0.00,8.38:0.00,0.00:0.00,8.38:0.00,0.60:0.00,0.00:0.00,0.60:60,60:28.6,17.0:0,1:0,0:122,50:29,100:15,4:-,NM_175056.1(ZPLD1) c.557+172_557+175delTATC:-,NOT_FOUND:-,NOT_FOUND 3 102176698 . G . . NT END=102181124;NT GT ./. 3 102181223 . G . . NT END=102183014;NT GT ./. 3 102183096 . G . . NT END=102187807;NT GT ./. 3 102186680 rs61096565 TAC T,TACAC 11 idl,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=48;DM=ZPLD1/Zona_pellucida GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:25:TACAC,T:4:4:3:1:3,1:100,31:11.06,2.98:9.18,2.98:1.88,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:0.0,79.0:0,0:0,0:35,54:115,97:21,0:NM_175056.1(ZPLD1) c.810-1127_810-1126delAC,NM_175056.1(ZPLD1) c.810-1127_810-1126dupAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 102187980 . G . . NT END=102189237;NT GT ./. 3 102189347 . G . . NT END=102195855;NT GT ./. 3 102195680 rs7627117 C A 9 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.5907,A/0.4093;PC=0.016;Gene=ZPLD1/NM_175056.1/1;CC=c.1091-176C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:102:A,C:7:7:0:0:3,4:101,134:9.46,0.00:9.46,0.00:0.00,0.00:0.69,0.00:0.69,0.00:0.00,0.00:60,60:33.7,0.0:0,0:0,0:57,62:94,88:28,39:NM_175056.1(ZPLD1) c.1091-176C>A,-:0.37,-:NOT_FOUND,- 3 102195886 . G . . NT END=102196286;NT GT ./. 3 102196463 . C . . NT END=105086252;NT GT ./. 3 102562150 . GCACACACACA G 9 nt VT=DEL;SST=Single;DP=5;PC=0.005;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:GCACACACACA,G:4:5:0:4:1,3:36,123:0.00,9.27:0.00,5.91:0.00,3.36:0.00,0.78:0.00,0.78:0.00,0.94:60,60:22.0,29.7:0,1:0,0:74,54:31,83:0,26:-,chr3 g.102562151_102562160delCACACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 102562164 . A G 10 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:5:5:0:0:2,3:70,99:0.00,9.87:0.00,6.31:0.00,3.56:0.00,0.78:0.00,0.78:0.00,0.94:60,60:11.0,29.7:1,3:0,0:89,37:38,97:1,10:-,chr3 g.102562163A>G (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 103659832 rs56363835 T TTGTG 7 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.4669,TTG/0.5331,TTGTG/.,TTGTGTG/.;DB;DBA=NA;PAF=T/0.4669,TTG/0.5331,TTGTG/.,TTGTGTG/.;NP=235;NP=6;NP=7;PC=0.045;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:T,TTGTG:3:4:3:0:1,2:33,95:0.00,6.55:0.00,3.28:0.00,3.28:0.00,0.51:0.00,0.51:0.00,0.89:60,60:0.0,27.5:0,1:0,0:122,83:29,62:0,1:-,chr3 g.103659832_103659833insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 104050397 rs2713701 C CACAA 10 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=10;NP=109;NP=182;NP=26;PC=0.027;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,CACAA:5:5:4:0:2,3:70,133:0.00,9.93:0.00,6.60:0.00,3.33:0.00,0.73:0.00,0.96:0.00,0.96:60,70:0.0,26.0:1,1:0,0:55,40:95,95:49,20:-,chr3 g.104050397_104050398insACAA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 104068003 rs368531526 T TTGTG 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=5;PC=0.019;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:T,TTGTG:4:2:2:0:2,2:58,67:0.00,6.45:0.00,3.33:0.00,3.12:0.00,0.51:0.00,0.79:0.00,0.89:60,60:60.5,0.0:0,0:0,0:68,46:35,105:35,24:-,chr3 g.104068003_104068004insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 104682417 rs9830221 T G 12 nt VT=SNV;PN=G;NN=A;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6164,A/.,G/0.3836;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:131:G,T:9:6:0:0:4,5:129,137:12.13,0.00:2.24,0.00:9.89,0.00:0.85,0.00:0.96,0.00:0.96,0.00:60,60:48.2,32.2:0,0:0,0:94,67:57,84:15,18:chr3 g.104682416T>G (intergenic),-:0.35,-:NOT_FOUND,- 3 104682432 rs150768015 TTGTGTG T 8 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=1;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:66:TTGTGTG,I,T:7:6:1:5:3,1,3:100,22,136:0.00,1.57,7.57:0.00,-0.05,5.62:0.00,1.63,1.95:0.00,0.00,0.64:0.00,0.00,0.89:0.00,0.00,0.89:60,60,60:22.7,58.0,74.3:0,0,2:0,0,0:114,83,64:37,68,86:10,0,26:-,chr3 g.104682433_104682438delTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 105086326 . G . . NT END=105238910;NT GT ./. 3 105238890 rs565104829 CT C 39 rn VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=941;Gene=ALCAM/NM_001243283.1/0;CC=c.74-10delT;VC=Intron;Gene=ALCAM/NM_001243281.1/0;CC=c.74-10delT;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.74-10delT;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.74-10delT;VC=Intron;DM=ALCAM/C2-set_2;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:20:18:0:13:7,13:240,387:0.00,39.27:0.00,25.15:0.00,14.12:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.7,56.8:0,0:0,0:47,42:104,98:9,24:-,NM_001627.3(ALCAM) c.74-20delT:-,NOT_FOUND:-,NOT_FOUND 3 105238901 rs2291376 T C 43 nt VT=SNV;PN=T;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=T/0.5705,C/0.4295;NP=2038;Gene=ALCAM/NM_001243283.1/0;CC=c.74-10T>C;VC=Intron;Gene=ALCAM/NM_001243281.1/0;CC=c.74-10T>C;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.74-10T>C;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.74-10T>C;VC=Intron;DM=ALCAM/C2-set_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:23:19:0:0:13,10:438,305:43.20,0.00:26.69,0.00:16.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:52.3,20.3:0,0:0,0:52,62:59,88:40,23:NM_001627.3(ALCAM) c.74-10T>C,-:0.43,-:0.036445,- 3 105239012 . G . . NT END=105243132;NT GT ./. 3 105244232 . T . . NT END=105250845;NT GT ./. 3 105244239 rs62260822 T A 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.9056,A/0.09445;PC=0.019;Gene=ALCAM/NM_001243281.1/0;CC=c.394+887T>A;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.394+887T>A;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.394+887T>A;VC=Intron;DM=ALCAM/C2-set_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:180:A,T:31:18:0:0:8,23:215,692:17.64,0.00:10.25,0.00:7.38,0.00:0.98,0.00:0.99,0.00:0.99,0.00:60,60:55.2,7.1:0,0:0,0:73,120:72,28:5,25:NM_001627.3(ALCAM) c.394+887T>A,-:0.09,-:NOT_FOUND,- 3 105250911 . G . . NT END=105252446;NT GT ./. 3 105252377 rs2171146 G C 53 nt VT=SNV;PN=A;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.4523,C/0.5477;Gene=ALCAM/NM_001243281.1/0;CC=c.460-70G>C;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.460-70G>C;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.460-70G>C;VC=Intron;DM=ALCAM/C2-set_2;DM=ALCAM/C2-set_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:31:31:0:0:16,15:544,482:52.71,0.00:42.28,0.00:10.43,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.1,14.7:0,0:0,0:42,42:109,102:27,30:NM_001627.3(ALCAM) c.460-70G>C,-:0.56,-:NOT_FOUND,- 3 105252535 . G . . NT END=105253506;NT GT ./. 3 105252687 rs2399049 G A 43 nt VT=SNV;PN=G;NN=G;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.1591,A/0.8409;PC=0.029;Gene=ALCAM/NM_001243281.1/0;CC=c.547+153G>A;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.547+153G>A;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.547+153G>A;VC=Intron;DM=ALCAM/C2-set_2;DM=ALCAM/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:0:0:0:12:372:42.91:0.00:42.91:1.00:0.00:1.00:60:37.3:0:0:111:39:25:NM_001627.3(ALCAM) c.547+153G>A,NM_001627.3(ALCAM) c.547+153G>A:0.85,0.85:NOT_FOUND,NOT_FOUND 3 105253475 rs6437601 A C 50 nt VT=SNV;PN=G;NN=C;SST=Single;DP=44;DB;DBA=NA;PAF=A/0.9173,C/0.08267;Gene=ALCAM/NM_001243281.1/0;CC=c.548-32A>C;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.548-32A>C;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.548-32A>C;VC=Intron;DM=ALCAM/C2-set_2;DM=ALCAM/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:44:40:0:0:28,16:875,544:0.00,49.51:0.00,39.76:0.00,9.76:0.00,1.00:0.00,1.00:0.00,1.00:60,60:24.3,38.4:0,0:0,0:54,54:96,97:44,33:-,NM_001627.3(ALCAM) c.548-32A>C:-,0.08:-,0.124635 3 105253690 . G . . NT END=105258818;NT GT ./. 3 105258861 rs1044240 A G 47 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.9169,G/0.08307;PC=0.959;Gene=ALCAM/NM_001243281.1/0;CC=c.773A>G;ProtCh=p.N258S;VC=Missense;Gene=ALCAM/NM_001243280.1/0;CC=c.773A>G;ProtCh=p.N258S;VC=Missense;Gene=ALCAM/NM_001627.3/1;CC=c.773A>G;ProtCh=p.N258S;VC=Missense;DM=ALCAM/Ig_3;DM=ALCAM/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:26:0:0:24,16:754,515:0.00,47.44:0.00,17.31:0.00,30.13:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.7,36.2:0,0:0,0:89,107:61,42:17,36:-,NM_001627.3(ALCAM) c.773A>G (p.Asn258Ser):-,0.08:-,0.124942 3 105258947 . G . . NT END=105260476;NT GT ./. 3 105259147 rs397990706 GA G 24 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=GA/0.03994,G/0.9601;DB;DBA=NA;PAF=GA/0.03994,G/0.9601;NP=1161;Gene=ALCAM/NM_001243281.1/0;CC=c.858+210delA;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.858+210delA;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.858+210delA;VC=Intron;DM=ALCAM/Ig_3;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:8:7:202:23.53:0.00:23.53:1.00:0.00:1.00:70:23.0:0:0:51:90:16:NM_001627.3(ALCAM) c.858+202delA,NM_001627.3(ALCAM) c.858+202delA:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 105260518 rs579565 G A 60 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.7632,A/0.2368;PC=1.000;Gene=ALCAM/NM_001243281.1/0;CC=c.900G>A;ProtCh=p.L300=;VC=Silent;Gene=ALCAM/NM_001243280.1/0;CC=c.900G>A;ProtCh=p.L300=;VC=Silent;Gene=ALCAM/NM_001627.3/1;CC=c.900G>A;ProtCh=p.L300=;VC=Silent;DM=ALCAM/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:34:0:0:20,23:635,758:60.12,0.00:38.50,0.00:21.63,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:56.5,24.9:0,0:0,0:61,74:89,75:22,36:NM_001627.3(ALCAM) c.900G>A (p.(=)),-:0.23,-:0.243195,- 3 105260596 rs599278 T C 201 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=54;DB;DBA=NA;PAF=T/0.03914,C/0.9609;PC=0.634;Gene=ALCAM/NM_001243281.1/0;CC=c.978T>C;ProtCh=p.A326=;VC=Silent;Gene=ALCAM/NM_001243280.1/0;CC=c.978T>C;ProtCh=p.A326=;VC=Silent;Gene=ALCAM/NM_001627.3/1;CC=c.978T>C;ProtCh=p.A326=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:151:C:54:30:0:0:54:1753:200.94:79.58:121.36:1.00:1.00:1.00:60:55.7:0:0:76:69:23:NM_001627.3(ALCAM) c.=,NM_001627.3(ALCAM) c.=:0.97,0.97:0.961864,0.961864 3 105260610 . G . . NT END=105264066;NT GT ./. 3 105260798 rs598425 G T 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1593,T/0.8407;PC=0.001;Gene=ALCAM/NM_001243281.1/0;CC=c.991+189G>T;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.991+189G>T;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.991+189G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:T:11:0:0:0:11:336:38.82:0.00:38.82:1.00:0.00:1.00:60:43.5:0:0:92:58:36:NM_001627.3(ALCAM) c.991+189G>T,NM_001627.3(ALCAM) c.991+189G>T:0.85,0.85:NOT_FOUND,NOT_FOUND 3 105264180 . G . . NT END=105265992;NT GT ./. 3 105265917 rs149966211 G T 23 nt VT=SNV;PN=G;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=G/0.9966,T/0.003395;NP=63;Gene=ALCAM/NM_001243281.1/0;CC=c.1105-76G>T;VC=Intron;Gene=ALCAM/NM_001243280.1/0;CC=c.1105-76G>T;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.1105-76G>T;VC=Intron;DM=ALCAM/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:23:21:0:0:15,8:460,258:0.00,23.18:0.00,21.97:0.00,1.20:0.00,0.99:0.00,1.00:0.00,0.87:60,60:3.2,32.2:0,0:0,0:40,36:98,114:21,20:-,NM_001627.3(ALCAM) c.1105-76G>T:-,0.0037:-,NOT_FOUND 3 105266129 . G . . NT END=105266233;NT GT ./. 3 105266368 . G . . NT END=105268970;NT GT ./. 3 105269104 . G . . NT END=105270987;NT GT ./. 3 105271027 . G . . NT END=105271311;NT GT ./. 3 105271935 rs9283551 T A 186 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.4916,A/0.5084;Gene=ALCAM/NM_001243281.1/0;CC=c.*502T>A;VC=3UTR;Gene=ALCAM/NM_001243280.1/0;CC=c.1625+506T>A;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.1664+506T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:146:A:52:23:0:0:52:1617:186.46:64.52:121.94:1.00:1.00:1.00:60:38.3:0:0:59:73:35:NM_001627.3(ALCAM) c.1664+506T>A,NM_001627.3(ALCAM) c.1664+506T>A:0.52,0.52:NOT_FOUND,NOT_FOUND 3 105272016 . C . . NT END=105290695;NT GT ./. 3 105272151 rs633432 T C 39 nt VT=SNV;PN=C;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=NA;Gene=ALCAM/NM_001243280.1/0;CC=c.1625+722T>C;VC=Intron;Gene=ALCAM/NM_001627.3/1;CC=c.1664+722T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:C:10:0:0:0:10:338:38.57:0.00:38.57:1.00:0.00:1.00:60:33.8:0:0:95:54:26:NM_001627.3(ALCAM) c.1664+722T>C,NM_001627.3(ALCAM) c.1664+722T>C:1,1:NOT_FOUND,NOT_FOUND 3 105290784 . G . . NT END=105377813;NT GT ./. 3 105297450 rs666474 G A 14 sb,nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.2618,A/0.7382 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:122:14.11:12.27:1.84:1.00:1.00:1.00:60:57.2:0:0:138:11:1:chr3 g.105297449G>A (intergenic),chr3 g.105297449G>A (intergenic):0.74,0.74:NOT_FOUND,NOT_FOUND 3 105297520 rs57146357 A AACACAC 14 idl,nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=3;NP=7;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:AACACAC:5:5:8:0:5:230:14.24:5.31:8.93:0.97:0.99:1.00:60:99.4:3:0:43:93:19:chr3 g.105297520_105297521insACACAC (intergenic),chr3 g.105297520_105297521insACACAC (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 105299715 rs635579 T C 19 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.03514,C/0.9649 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:171:19.48:19.48:0.00:1.00:1.00:0.00:60:43.8:0:0:36:115:5:chr3 g.105299714T>C (intergenic),chr3 g.105299714T>C (intergenic):0.97,0.97:NOT_FOUND,NOT_FOUND 3 105305412 rs74706422 T TTG 6 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=15;NP=8;PC=0.012;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:T,TTG,D:5:6:3:1:2,2,1:67,101,23:0.00,6.35,1.84:0.00,6.44,0.88:0.00,-0.09,0.96:0.00,0.89,0.00:0.00,0.89,0.00:0.00,0.81,0.00:60,60,60:0.0,11.0,76.0:0,1,0:0,0,0:64,23,76:51,57,58:21,8,0:-,chr3 g.105305412_105305413insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 105327938 rs3048659 T TTGTGTGTG 21 idl,nt VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=19;NP=2;NP=4;NP=7;PC=0.143;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:T,TTGTGTGTG:7:9:9:0:1,6:34,292:0.00,21.13:0.00,17.63:0.00,3.51:0.00,0.99:0.00,1.00:0.00,0.99:60,70:0.0,15.5:0,3:0,0:79,44:67,101:0,7:-,chr3 g.105327938_105327939insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 105378074 . C . . NT END=105389076;NT GT ./. 3 105389197 . C . . NT END=105397274;NT GT ./. 3 105397416 . C . . NT END=105400322;NT GT ./. 3 105400455 . C . . NT END=105400567;NT GT ./. 3 105400663 . C . . NT END=105404163;NT GT ./. 3 105400846 rs2034157 A G 13 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.5204,G/0.4796;PC=0.002;Gene=CBLB/NM_170662.3/1;CC=c.2202-184T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:113:13.18:0.00:13.18:1.00:0.00:1.00:60:56.5:0:0:81:68:41:NM_170662.3(CBLB) c.2202-184T>C,NM_170662.3(CBLB) c.2202-184T>C:0.46,0.46:NOT_FOUND,NOT_FOUND 3 105404031 rs16851440 T C 18 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.5377,C/0.4623;Gene=CBLB/NM_170662.3/1;CC=c.2201+133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:14:14:0:0:7,7:190,230:18.07,0.00:18.07,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:38.4,3.6:0,0:0,0:27,56:123,94:23,35:NM_170662.3(CBLB) c.2201+133A>G,-:0.44,-:NOT_FOUND,- 3 105404311 . C . . NT END=105412337;NT GT ./. 3 105412286 rs397830010 C CTT 51 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=C/0.003594,CTT/0.9964;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=3359;Gene=CBLB/NM_170662.3/1;CC=c.2054+51_2054+52insAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:CTT:14:13:14:0:14:447:51.37:45.71:5.67:1.00:1.00:1.00:60:5.0:0:0:42:109:29:NM_170662.3(CBLB) c.2054+51_2054+52insAA,NM_170662.3(CBLB) c.2054+51_2054+52insAA:NOT_FOUND,NOT_FOUND:0.996323,0.996323 3 105412433 . C . . NT END=105420937;NT GT ./. 3 105421304 . C . . NT END=105422831;NT GT ./. 3 105421320 rs373065230 G GAAA 28 sb;idl,rn VT=INS;SST=Single;DP=43;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=104;Gene=CBLB/NM_170662.3/1;CC=c.1594-18_1594-17insTTT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GAAA,D:38:31:15:1:4,23,10,1:130,722,485,33:9.81,0.00,28.20,1.91:-0.59,0.00,29.23,2.00:10.41,0.00,-1.03,-0.09:0.00,0.00,0.99,0.00:0.00,0.00,1.00,0.00:0.00,0.00,0.95,0.00:60,60,60,60:148.5,14.7,64.4,0.0:1,0,5,0:0,0,0,0:76,136,71,25:67,11,79,125:6,13,22,0:-,NM_170662.3(CBLB) c.1594-18_1594-17insTTT:-,NOT_FOUND:-,NOT_FOUND 3 105421344 . C A 6 sb,nt VT=SNV;PN=A;NN=T;SST=Single;DP=40;Gene=CBLB/NM_170662.3/1;CC=c.1594-41G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:40:A,C:40:21:0:1:7,33:109,1030:6.30,0.00:8.18,0.00:-1.88,0.00:0.94,0.00:0.95,0.00:0.98,0.00:60,60:55.4,48.7:0,0:0,0:112,59:37,76:12,27:NM_170662.3(CBLB) c.1594-41G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 105422844 rs2305037 C T 123 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=84;DB;DBA=NA;PAF=C/0.249,T/0.751;PC=0.185;Gene=CBLB/NM_170662.3/1;CC=c.1581G>A;ProtCh=p.T527=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:84:77:0:0:45,39:1377,1298:0.00,123.19:0.00,98.66:0.00,24.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,40.0:0,0:0,0:63,51:76,99:33,29:-,NM_170662.3(CBLB) c.1581G>A (p.(=)):-,0.72:-,0.736891 3 105423018 . C . . NT END=105438890;NT GT ./. 3 105423088 rs1548056 T C 168 nt VT=SNV;PN=A;NN=A;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.01518,C/0.9848;Gene=CBLB/NM_170662.3/1;CC=c.1408-71A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:C:46:10:0:0:46:1464:168.18:28.88:139.30:1.00:1.00:1.00:60:48.5:0:0:95:56:30:NM_170662.3(CBLB) c.1408-71A>G,NM_170662.3(CBLB) c.1408-71A>G:0.99,0.99:NOT_FOUND,NOT_FOUND 3 105438806 rs7624400 G A 86 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.1951,A/0.8049;Gene=CBLB/NM_170662.3/1;CC=c.1407+85C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:24:0:0:24:751:86.49:82.57:3.93:1.00:1.00:1.00:60:45.2:0:0:57:94:37:NM_170662.3(CBLB) c.1407+85C>T,NM_170662.3(CBLB) c.1407+85C>T:0.8,0.8:NOT_FOUND,NOT_FOUND 3 105439095 . C . . NT END=105452852;NT GT ./. 3 105439343 rs9831221 G A 26 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.01538,A/0.9846;Gene=CBLB/NM_170662.3/1;CC=c.1204-249C>T;VC=Intron;DM=CBLB/zf-C3HC4_3;DM=CBLB/zf-C3HC4_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:230:26.34:0.00:26.34:1.00:0.00:1.00:60:50.9:0:0:62:88:27:NM_170662.3(CBLB) c.1204-249C>T,NM_170662.3(CBLB) c.1204-249C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 3 105452593 rs17202341 A G 23 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.8325,G/0.1675;Gene=CBLB/NM_170662.3/1;CC=c.1203+260T>C;VC=Intron;DM=CBLB/zf-C3HC4_3;DM=CBLB/zf-C3HC4_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:6:0:0:6:204:23.26:23.26:0.00:1.00:1.00:0.00:60:35.3:0:0:34:115:13:NM_170662.3(CBLB) c.1203+260T>C,NM_170662.3(CBLB) c.1203+260T>C:0.19,0.19:NOT_FOUND,NOT_FOUND 3 105452751 rs1992520 C T 76 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.01538,T/0.9846;Gene=CBLB/NM_170662.3/1;CC=c.1203+102G>A;VC=Intron;DM=CBLB/zf-C3HC4_3;DM=CBLB/zf-C3HC4_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:21:0:0:22:660:76.40:69.09:7.30:1.00:1.00:1.00:60:37.2:0:0:46:105:24:NM_170662.3(CBLB) c.1203+102G>A,NM_170662.3(CBLB) c.1203+102G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 3 105452985 . C . . NT END=105456014;NT GT ./. 3 105453034 rs6768096 A G 98 nt VT=SNV;PN=C;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.01538,G/0.9846;Gene=CBLB/NM_170662.3/1;CC=c.1072-50T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:68:G,T:29:12:0:0:28,1:851,7:97.95,0.14:28.64,0.00:69.31,0.14:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.8,42.0:0,0:0,0:96,118:38,33:20,0:NM_170662.3(CBLB) c.1072-50T>C,NM_170662.3(CBLB) c.1072-50T>C:0.99,0.99:0.985161,0.985161 3 105455955 rs2289746 T C 51 nt VT=SNV;PN=A;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.4299,C/0.5701;Gene=CBLB/NM_170662.3/1;CC=c.1071+60A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:C:13:13:0:0:13:445:50.70:46.62:4.08:1.00:1.00:1.00:60:47.2:0:0:38:113:26:NM_170662.3(CBLB) c.1071+60A>G,NM_170662.3(CBLB) c.1071+60A>G:0.55,0.55:NOT_FOUND,NOT_FOUND 3 105456103 . C . . NT END=105459337;NT GT ./. 3 105459476 . C . . NT END=105464760;NT GT ./. 3 105464516 rs76644852 C G 12 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.9914,G/0.008586;Gene=CBLB/NM_170662.3/1;CC=c.845+245G>C;VC=Intron;DM=CBLB/Cbl_N3;DM=CBLB/Cbl_N3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,G:5:5:0:0:1,4:34,117:0.00,12.50:0.00,12.50:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,56.8:0,0:0,0:23,42:128,108:0,24:-,NM_170662.3(CBLB) c.845+245G>C:-,0.01:-,NOT_FOUND 3 105464883 . C . . NT END=105470305;NT GT ./. 3 105470463 . C . . NT END=105495239;NT GT ./. 3 105495098 rs9657920 CCAAT C 47 sb,nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=CCAAT/0.4273,C/0.5727;DB;DBA=NA;PAF=CCAAT/0.4273,C/0.5727;DB;DBA=NA;PAF=CCAAT/0.4273,C/0.5727;NP=1140;Gene=CBLB/NM_170662.3/1;CC=c.566+138_566+141delATTG;VC=Intron;DM=CBLB/Cbl_N2;DM=CBLB/Cbl_N2;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:CCAAT,C:14:14:0:13:1,13:29,419:0.00,46.54:0.00,44.61:0.00,1.92:0.00,1.00:0.00,1.00:0.00,0.95:60,60:0.0,16.4:0,0:0,0:147,46:3,101:0,32:NM_170662.3(CBLB) c.566+138_566+141delATTG,NM_170662.3(CBLB) c.566+138_566+141delATTG:0.58,0.58:NOT_FOUND,NOT_FOUND 3 105495179 rs9657905 A C 74 nt VT=SNV;PN=G;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.9824,C/0.01757;PC=0.005;Gene=CBLB/NM_170662.3/1;CC=c.566+61T>G;VC=Intron;DM=CBLB/Cbl_N2;DM=CBLB/Cbl_N2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:35:31:0:0:13,22:423,733:0.00,73.77:0.00,54.50:0.00,19.27:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.2,34.7:0,0:0,0:71,37:80,111:21,22:-,NM_170662.3(CBLB) c.566+61T>G:-,0.02:-,NOT_FOUND 3 105495387 . C . . NT END=105572257;NT GT ./. 3 105495432 rs9809911 G T 112 nt VT=SNV;PN=A;NN=A;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.01558,A/.,T/0.9844;PC=0.007;Gene=CBLB/NM_170662.3/1;CC=c.420-46C>A;VC=Intron;DM=CBLB/Cbl_N;DM=CBLB/Cbl_N;DM=CBLB/Cbl_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:81:G,T:35:9:0:0:1,34:12,979:0.00,112.08:0.00,26.75:0.00,85.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:142.0,41.9:0,0:0,0:90,90:25,57:0,35:NM_170662.3(CBLB) c.420-46C>A,NM_170662.3(CBLB) c.420-46C>A:0.99,0.99:0.985391,0.985391 3 105572509 . C . . NT END=105586253;NT GT ./. 3 105586436 . C . . NT END=105587012;NT GT ./. 3 105586538 rs2221379 G A 64 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.02117,A/0.9788;Gene=CBLB/NM_170662.3/1;CC=c.-14-103C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:39:A,C:21:1:0:0:20,1:554,12:64.29,0.49:1.98,0.00:62.31,0.49:1.00,0.00:0.97,0.00:1.00,0.00:60,60:43.7,82.0:0,0:0,0:97,5:45,144:34,0:NM_170662.3(CBLB) c.-14-103C>T,NM_170662.3(CBLB) c.-14-103C>T:0.98,0.98:NOT_FOUND,NOT_FOUND 3 105587111 . G . . NT END=105587579;NT GT ./. 3 105587888 . G . . NT END=105588180;NT GT ./. 3 105588069 rs11711088 G A 127 nt VT=SNV;PN=C;NN=T;SST=Single;DP=35;DB;DBA=NA;PAF=G/0.4401,A/0.5599;PC=0.026 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:94:A:35:21:0:0:35:1105:127.13:78.11:49.02:1.00:1.00:1.00:60:43.2:0:0:46:105:31:NM_170662.3(CBLB) c.-322-u182C>T,NM_170662.3(CBLB) c.-322-u182C>T:0.57,0.57:NOT_FOUND,NOT_FOUND 3 105588290 . A . . NT END=107096434;NT GT ./. 3 105831453 rs13058914 G C 111 nt VT=SNV;PN=T;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.3734,C/0.6266;NP=348 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:C:29:29:0:0:29:967:110.53:102.82:7.70:1.00:1.00:1.00:40:52.6:0:0:50:101:29:chr3 g.105831452G>C (intergenic),chr3 g.105831452G>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 105834859 rs397730152 CGTGT T,C 9 sb,nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=102;PC=0.015 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:8:T,C:4:2:0:3:1,3:13,80:1.18,9.05:0.00,7.10:1.18,1.94:0.00,0.85:0.00,0.95:0.00,0.95:60,60:126.0,51.3:1,0:0,0:91,68:55,83:0,9:chr3 g.105834859_105834862delCGTG (intergenic),chr3 g.105834860_105834863delGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 105890589 rs71677239 G GCGCA 7 idl,nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=102;NP=2;NP=4;NP=6;NP=6;PC=0.002;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:G,GCGCA:3:6:5:0:1,2:31,167:0.00,6.52:0.00,4.82:0.00,1.70:0.00,0.89:0.00,0.89:0.00,0.56:60,60:31.0,11.0:0,3:0,0:10,34:140,117:0,19:-,chr3 g.105890589_105890590insCGCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 105923176 rs369738942 T TCACACACA 10 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=21;NP=33;NP=5;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:T,TCACACACA:4:2:3:0:1,3:33,95:0.00,9.95:0.00,3.60:0.00,6.35:0.00,0.85:0.00,0.95:0.00,0.85:60,60:0.0,34.0:0,0:0,0:103,68:36,64:0,4:-,chr3 g.105923176_105923177insCACACACA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 106137252 rs11717236 T A,C 10 nt VT=SNV;PN=G;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=238;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:6:A,C:4:4:0:1:1,3:10,89:0.88,9.95:0.88,4.97:0.00,4.97:0.00,0.85:0.00,0.85:0.00,0.99:60,60:83.0,40.0:0,0:0,0:37,74:94,77:0,57:chr3 g.106137251T>A (intergenic),chr3 g.106137251T>C (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 106269033 rs77714289 T TAC 6 rn VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=194;NP=9;PC=0.002;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:T,TAC:4:3:2:0:2,2:45,66:0.00,6.36:0.00,1.15:0.00,5.21:0.00,0.51:0.00,0.89:0.00,0.79:60,60:0.0,10.5:0,0:0,0:131,104:13,40:14,10:-,chr3 g.106269033_106269034insAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 106823846 . G GGAGT 20 nt VT=INS;SST=Single;DP=28;NP=2;PC=1.000;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GGAGT:28:25:8:0:20,8:580,230:0.00,19.56:0.00,15.61:0.00,3.95:0.00,0.98:0.00,1.00:0.00,0.97:60,60:17.6,10.4:0,0:0,0:49,47:101,103:30,23:-,chr3 g.106823846_106823847insGAGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 106824709 rs57565986 CT C 7 rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CT/0.3383,C/0.6617;NP=4;PC=0.007;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:50:CT,T,I,C:9:0:1:3:4,1,1,3:128,34,28,78:0.00,2.72,2.12,7.09:0.00,0.00,0.00,0.00:0.00,2.72,2.12,7.09:0.00,0.00,0.00,0.64:0.00,0.00,0.00,0.00:0.00,0.00,0.00,0.64:60,57,60,60:13.0,202.0,0.0,14.3:0,0,0,0:0,0,0,0:143,127,95,105:6,-21,56,46:4,0,0,16:-,chr3 g.106824710delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 106824950 rs7639776 T C 17 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.001797,C/0.9982;NP=2947;PC=0.317 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:4:0:0:5:150:17.38:13.70:3.68:1.00:1.00:1.00:60:34.0:0:0:88:62:13:chr3 g.106824949T>C (intergenic),chr3 g.106824949T>C (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 3 106825268 . A AC 100 nt VT=INS;SST=Single;DP=29;NP=3471;PC=1.000;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:76:AC:29:13:29:0:29:858:99.57:35.21:64.35:1.00:1.00:1.00:70:13.3:0:0:85:66:30:chr3 g.106825268_106825269insC (intergenic),chr3 g.106825268_106825269insC (intergenic):0.99,0.99:NOT_FOUND,NOT_FOUND 3 106825838 rs2141346 A G 28 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.002796,G/0.9972;NP=3486 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:4:0:0:8:241:27.88:9.14:18.74:1.00:1.00:1.00:60:36.6:0:0:88:30:38:chr3 g.106825837A>G (intergenic),chr3 g.106825837A>G (intergenic):1,1:NOT_FOUND,NOT_FOUND 3 107016219 rs10609855 TACACACACAC T 6 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=28;Gene=DUBR/NR_028302.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:TACACACACAC,T:4:4:0:2:2,2:45,67:0.00,6.46:0.00,2.94:0.00,3.53:0.00,0.51:0.00,0.51:0.00,0.79:60,60:11.0,0.0:0,0:0,0:101,26:27,106:34,9:-,NR_028302.1(LOC344595) n.565+5443_565+5452delACACACACAC:-,NOT_FOUND:-,NOT_FOUND 3 107096547 rs709564 G A 112 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=74;DB;DBA=NA;PAF=G/0.5008,A/0.4992;Gene=CCDC54/NM_032600.2/1;CC=c.113G>A;ProtCh=p.R38Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:74:51:0:0:35,39:1178,1228:112.25,0.00:60.34,0.00:51.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.9,1.2:0,0:0,0:67,67:71,78:41,39:NM_032600.2(CCDC54) c.113G>A (p.Arg38Gln),-:0.47,-:0.267107,- 3 107097422 . A . . NT END=107378563;NT GT ./. 3 107378618 . G . . NT END=107380674;NT GT ./. 3 107380793 . T . . NT END=107429298;NT GT ./. 3 107380821 rs329926 A G 31 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.3962,G/0.6038;PC=0.824;Gene=BBX/NM_001142568.2/1;CC=c.-10+16065A>G;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.-10+16065A>G;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.-10+16065A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:19:6:0:0:9,9,1:271,319,11:0.00,30.77,0.23:0.00,4.88,-0.06:0.00,25.89,0.29:0.00,1.00,0.00:0.00,0.97,0.00:0.00,1.00,0.00:60,60,60:0.0,35.4,33.0:0,0,0:0,0,0:101,129,32:50,22,117:14,5,0:-,NM_001142568.1(BBX) c.-10+16065A>G:-,0.6:-,NOT_FOUND 3 107429274 . TTC T 7 end,rn VT=DEL;SST=Single;DP=33;Gene=BBX/NM_001142568.2/1;CC=c.-9-13_-9-12delCT;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.-9-13_-9-12delCT;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.-9-13_-9-12delCT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:TTC,T:33:28:0:3:30,3:952,97:0.00,6.77:0.00,1.78:0.00,4.98:0.00,0.41:0.00,0.84:0.00,0.62:60,60:8.7,0.0:0,0:0,0:54,10:97,139:24,1:-,NM_001142568.1(BBX) c.-9-24_-9-23delTC:-,NOT_FOUND:-,NOT_FOUND 3 107429471 . T . . NT END=107435453;NT GT ./. 3 107435698 . T . . NT END=107447611;NT GT ./. 3 107447809 . T . . NT END=107451802;NT GT ./. 3 107447857 rs3761963 T A 44 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.5232,A/0.4768,G/.;Gene=BBX/NM_001142568.2/1;CC=c.601+50T>A;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.601+50T>A;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.601+50T>A;VC=Intron;DM=BBX/DUF2028;DM=BBX/DUF2028;DM=BBX/DUF2028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:39:11:0:0:16,23:476,665:43.74,0.00:15.31,0.00:28.43,0.00:1.00,0.00:0.99,0.00:1.00,0.00:60,60:37.2,14.4:0,0:0,0:101,115:50,35:24,24:NM_001142568.1(BBX) c.601+50T>A,-:0.49,-:0.334999,- 3 107451872 . T . . NT END=107463476;NT GT ./. 3 107451907 rs4855764 C T 137 nt VT=SNV;PN=A;NN=T;SST=Single;DP=37;DB;DBA=NA;PAF=C/0.002596,T/0.9974;NP=3422;Gene=BBX/NM_001142568.2/1;CC=c.669+37C>T;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.669+37C>T;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.669+37C>T;VC=Intron;DM=BBX/DUF2028;DM=BBX/DUF2028;DM=BBX/DUF2028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:100:T:37:20:0:0:37:1191:136.69:46.64:90.04:1.00:1.00:1.00:60:37.0:0:0:102:48:21:NM_001142568.1(BBX) c.669+37C>T,NM_001142568.1(BBX) c.669+37C>T:1,1:0.995771,0.995771 3 107463456 rs3838316 TG T 59 nt VT=DEL;SST=Single;DP=36;DB;DBA=NA;PAF=TG/0.515,T/0.485;NP=2166;PC=0.002;Gene=BBX/NM_001142568.2/1;CC=c.670-20delG;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.670-20delG;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.670-20delG;VC=Intron;DM=BBX/DUF2028;DM=BBX/DUF2028;DM=BBX/DUF2028;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TG,T:36:33:0:19:17,19:568,606:0.00,58.85:0.00,45.39:0.00,13.46:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,2.0:0,0:0,0:65,48:86,101:44,32:-,NM_001142568.1(BBX) c.670-20delG:-,0.5:-,0.347284 3 107463559 . T . . NT END=107466811;NT GT ./. 3 107466888 . T . . NT END=107474444;NT GT ./. 3 107474223 rs3761964 C G 7 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.8992,G/0.1008;PC=0.001;Gene=BBX/NM_001142568.2/1;CC=c.826-222C>G;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.826-222C>G;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.826-222C>G;VC=Intron;DM=BBX/DUF2028;DM=BBX/DUF2028;DM=BBX/DUF2028 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:80:C,G:6:6:0:0:3,3:105,78:0.00,7.40:0.00,7.40:0.00,0.00:0.00,0.73:0.00,0.73:0.00,0.00:60,60:0.0,34.3:0,0:0,0:74,117:76,34:15,4:-,NM_001142568.1(BBX) c.826-222C>G:-,0.1:-,NOT_FOUND 3 107474527 . C . . NT END=107491474;NT GT ./. 3 107491758 rs397757043 TAGA T 133 PASS VT=DEL;SST=Single;DP=77;DB;DBA=NA;PAF=TAGA/0.9627,T/0.03734;DB;DBA=NA;PAF=TAGA/0.9627,T/0.03734;NP=632;PC=1.000;Gene=BBX/NM_001142568.2/1;CC=c.1197_1199delAGA;ProtCh=p.E399del;VC=InFrameDel;Gene=BBX/NM_001276286.1/0;CC=c.907-1801_907-1799delAGA;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.1197_1199delAGA;ProtCh=p.E399del;VC=InFrameDel;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TAGA,T:77:43:0:42:35,42:1081,1355:0.00,132.52:0.00,69.75:0.00,62.78:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.9,13.1:0,0:0,0:80,79:71,66:39,27:-,NM_001142568.1(BBX) c.1191AGA[2] (p.Glu398[1]):-,0.05:-,0.088527 3 107492485 . T . . NT END=107493565;NT GT ./. 3 107493706 . T . . NT END=107497217;NT GT ./. 3 107497368 . T . . NT END=107508633;NT GT ./. 3 107508725 . T . . NT END=107510086;NT GT ./. 3 107510148 . T . . NT END=107517369;NT GT ./. 3 107517569 . T . . NT END=107519941;NT GT ./. 3 107519843 rs1532325 T C 76 nt VT=SNV;PN=A;NN=G;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.02636,C/0.9736;Gene=BBX/NM_001142568.2/1;CC=c.2552-99T>C;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.1543-99T>C;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.2462-99T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:20:0:0:21:657:75.71:66.36:9.34:1.00:1.00:1.00:60:40.3:0:0:29:122:16:NM_001142568.1(BBX) c.2552-99T>C,NM_001142568.1(BBX) c.2552-99T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 107520130 . T . . NT END=107524216;NT GT ./. 3 107524110 rs35374854 C T 39 nt VT=SNV;PN=G;NN=A;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.9265,T/0.07348;NP=858;Gene=BBX/NM_001142568.2/1;CC=c.2739-107C>T;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.1730-107C>T;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.2649-107C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:31:31:0:0:17,14:575,419:0.00,39.31:0.00,37.86:0.00,1.46:0.00,1.00:0.00,1.00:0.00,0.85:60,60:7.4,35.3:16,0:0,0:41,19:108,132:32,14:-,NM_001142568.1(BBX) c.2739-107C>T:-,NOT_FOUND:-,NOT_FOUND 3 107524112 rs397802153 G GT 49 nt VT=INS;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.517,GT/0.483;DB;DBA=NA;PAF=G/0.517,GT/0.483;NP=2278;Gene=BBX/NM_001142568.2/1;CC=c.2739-104dupT;VC=Intron;Gene=BBX/NM_001276286.1/0;CC=c.1730-104dupT;VC=Intron;Gene=BBX/NM_020235.6/0;CC=c.2649-104dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:31:30:16:0:15,16:477,510:0.00,49.31:0.00,44.69:0.00,4.63:0.00,1.00:0.00,1.00:0.00,0.90:60,60:32.9,1.6:1,0:0,0:25,35:126,114:12,24:-,NM_001142568.1(BBX) c.2739-105_2739-104insT:-,0.52:-,NOT_FOUND 3 107524375 . T . . NT END=107766130;NT GT ./. 3 107726719 rs144349444 ATGTG A 14 rn VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=ATGTG/0.08986,A/0.9101;NP=68;PC=0.922;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:5:A:5:2:0:5:5:117:14.02:4.56:9.46:1.00:1.00:1.00:70:27.2:0:0:55:87:33:chr3 g.107726720_107726723delTGTG (intergenic),chr3 g.107726720_107726723delTGTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 107766140 . C . . NT END=107768465;NT GT ./. 3 107768499 . C . . NT END=107769424;NT GT ./. 3 107769450 . C . . NT END=107770785;NT GT ./. 3 107770818 . C . . NT END=107774366;NT GT ./. 3 107770938 rs9855486 T A 14 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.9153,A/0.08466;PC=0.001;Gene=CD47/NM_001777.3/1;CC=c.878-121A>T;VC=Intron;Gene=CD47/NM_198793.2/0;CC=c.878-121A>T;VC=Intron;DM=CD47/CD47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:87:A,T:7:0:0:0:4,3:141,86:13.93,0.00:0.00,0.00:13.93,0.00:0.90,0.00:0.00,0.00:0.90,0.00:60,60:43.5,17.7:0,0:0,0:85,122:65,29:42,10:NM_001777.3(CD47) c.878-121A>T,-:0.1,-:NOT_FOUND,- 3 107774414 . C . . NT END=107776323;NT GT ./. 3 107776417 . C . . NT END=107777183;NT GT ./. 3 107776511 rs709436 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.004992,T/0.995;NP=2543;Gene=CD47/NM_001777.3/1;CC=c.785-95G>A;VC=Intron;Gene=CD47/NM_198793.2/0;CC=c.785-95G>A;VC=Intron;DM=CD47/CD47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:2:0:0:9:286:32.86:3.98:28.89:1.00:1.00:1.00:60:43.2:0:0:119:32:9:NM_001777.3(CD47) c.785-95G>A,NM_001777.3(CD47) c.785-95G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 3 107777051 rs3762679 C A 9 nt VT=SNV;PN=C;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=C/0.7087,A/0.2913;Gene=CD47/NM_001777.3/1;CC=c.784+133G>T;VC=Intron;Gene=CD47/NM_198793.2/0;CC=c.784+133G>T;VC=Intron;DM=CD47/CD47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:101:A,C:8:8:0:0:3,5:103,161:9.43,0.00:9.43,0.00:0.00,0.00:0.67,0.00:0.67,0.00:0.00,0.00:60,60:34.3,0.0:0,0:0,0:24,24:126,127:19,14:NM_001777.3(CD47) c.784+133G>T,-:0.27,-:NOT_FOUND,- 3 107777277 . C . . NT END=107778298;NT GT ./. 3 107778392 . C . . NT END=107779591;NT GT ./. 3 107779700 . C . . NT END=107789939;NT GT ./. 3 107790030 . C . . NT END=107798837;NT GT ./. 3 107798760 rs564257953 C A 14 nt VT=SNV;PN=T;NN=C;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.9994,A/.,G/0.000599;NP=1;NP=2;Gene=CD47/NM_001777.3/1;CC=c.400+78G>T;VC=Intron;Gene=CD47/NM_198793.2/0;CC=c.400+78G>T;VC=Intron;DM=CD47/V-set_CD47 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:156:A,C:12:12:0:0:5,7:155,230:14.35,0.00:14.35,0.00:0.00,0.00:0.92,0.00:0.92,0.00:0.00,0.00:60,60:53.6,24.6:0,0:0,0:114,29:37,122:27,16:NM_001777.3(CD47) c.400+78G>T,-:NOT_FOUND,-:NOT_FOUND,- 3 107799192 . C . . NT END=107809709;NT GT ./. 3 107809756 . C . . NT END=107881323;NT GT ./. 3 107809798 rs445541 C T 301 nt VT=SNV;PN=C;NN=G;SST=Single;DP=80;DB;DBA=NA;PAF=NA;NP=438;PC=0.999;Gene=CD47/NM_001777.3/1;CC=c.-43G>A;VC=5UTR;Gene=CD47/NM_198793.2/0;CC=c.-43G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:80:46:0:0:80:2630:301.05:118.57:182.48:1.00:1.00:1.00:60:40.1:0:0:101:47:24:NM_001777.3(CD47) c.=,NM_001777.3(CD47) c.=:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 107837928 rs113136836 T TTG 16 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.3269,TTG/0.6731,TTGTG/.;NP=21;NP=359;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:104:G,T,TTG:10:9:5:0:1,4,5:34,127,168:2.69,0.00,16.48:1.28,0.00,9.47:1.42,0.00,7.00:0.00,0.00,0.95:0.00,0.00,1.00:0.00,0.00,0.96:60,60,60:64.0,2.2,1.6:1,1,0:0,0,0:121,78,46:30,71,82:0,37,23:-,chr3 g.107837928_107837929insTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 107838131 rs4855552 G T 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4253,T/0.5747;PC=0.012 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:G,T:4:0:0:0:1,3:35,99:0.00,10.35:0.00,0.00:0.00,10.35:0.00,0.85:0.00,0.00:0.00,0.85:60,60:0.0,33.0:0,0:0,0:114,129:36,22:0,12:-,chr3 g.107838130G>T (intergenic):-,0.58:-,NOT_FOUND 3 107851334 rs72464070 GCACACACA G 14 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=149;Gene=LINC01215/NR_110030.1/0;VC=NonCoding;Gene=LINC01215/NR_110028.1/0;VC=NonCoding;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:5:4:161:14.32:5.72:8.60:0.96:1.00:1.00:60:3.0:1:0:57:94:23:chr3 g.107851335_107851342delCACACACA (intergenic),chr3 g.107851335_107851342delCACACACA (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 107881503 . C . . NT END=107882509;NT GT ./. 3 107882577 . C . . NT END=107884277;NT GT ./. 3 107882643 rs327168 G A 92 nt VT=SNV;PN=T;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.237,A/0.763;Gene=IFT57/NM_018010.3/1;CC=c.1045-67C>T;VC=Intron;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:8:0:0:25:799:91.81:19.52:72.29:1.00:1.00:1.00:60:35.1:0:0:81:59:39:NM_018010.3(IFT57) c.1045-67C>T,NM_018010.3(IFT57) c.1045-67C>T:0.77,0.77:0.909649,0.909649 3 107884211 rs327167 T C 124 nt VT=SNV;PN=T;NN=T;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.001398,C/0.9986;NP=3462;Gene=IFT57/NM_018010.3/1;CC=c.1044+67A>G;VC=Intron;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:86:C:32:30:0:0:32:1089:124.16:102.29:21.87:1.00:1.00:1.00:60:38.8:0:0:32:117:18:NM_018010.3(IFT57) c.1044+67A>G,NM_018010.3(IFT57) c.1044+67A>G:1,1:0.997372,0.997372 3 107884341 . C . . NT END=107885700;NT GT ./. 3 107885833 . C . . NT END=107886639;NT GT ./. 3 107886712 . C . . NT END=107910367;NT GT ./. 3 107892613 rs72131609 CTGTG C 10 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=CTGTG/0.394,C/0.606;DB;DBA=NA;PAF=CTGTG/0.394,C/0.606;DB;DBA=NA;PAF=CTGTG/0.394,C/0.606;NP=129;PC=0.002;Gene=IFT57/NM_018010.3/1;CC=c.778-5906_778-5903delCACA;VC=Intron;DM=IFT57/IFT57;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:106:CTGTG,C:8:8:0:4:4,4:132,102:0.00,9.52:0.00,6.05:0.00,3.48:0.00,0.87:0.00,0.87:0.00,0.51:60,60:6.0,39.5:0,0:0,0:122,22:27,84:6,10:-,NM_018010.3(IFT57) c.778-5906_778-5903delCACA:-,NOT_FOUND:-,NOT_FOUND 3 107910327 rs60290956 C CT 12 idl,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2;NP=8;Gene=IFT57/NM_018010.3/1;CC=c.777+40dupA;VC=Intron;DM=IFT57/IFT57;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:65:C,CT,D:37:34:6:4:29,5,3:990,191,133:0.00,12.00,7.08:0.00,9.98,6.00:0.00,2.02,1.09:0.00,0.77,0.00:0.00,0.96,0.00:0.00,0.81,0.00:60,60,60:14.8,26.6,3.7:0,1,1:0,0,0:74,19,50:77,121,100:36,8,21:-,NM_018010.3(IFT57) c.777+40_777+41insA:-,NOT_FOUND:-,NOT_FOUND 3 107910491 . C . . NT END=107925474;NT GT ./. 3 107925544 . C . . NT END=107932777;NT GT ./. 3 107932869 . C . . NT END=107937381;NT GT ./. 3 107937165 rs1289762 C G 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=C/0.3319,G/0.6681;Gene=IFT57/NM_018010.3/1;CC=c.494+217G>C;VC=Intron;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:151:17.45:17.45:0.00:1.00:1.00:0.00:60:79.2:0:0:26:124:20:NM_018010.3(IFT57) c.494+217G>C,NM_018010.3(IFT57) c.494+217G>C:0.68,0.68:NOT_FOUND,NOT_FOUND 3 107937231 rs1289761 T C 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3319,C/0.6681;PC=0.435;Gene=IFT57/NM_018010.3/1;CC=c.494+151A>G;VC=Intron;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:160:18.38:18.38:0.00:1.00:1.00:0.00:60:85.6:0:0:73:78:19:NM_018010.3(IFT57) c.494+151A>G,NM_018010.3(IFT57) c.494+151A>G:0.68,0.68:NOT_FOUND,NOT_FOUND 3 107937286 rs1289760 A G 34 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2416,G/0.7584;PC=0.065;Gene=IFT57/NM_018010.3/1;CC=c.494+96T>C;VC=Intron;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:294:33.69:33.69:0.00:1.00:1.00:0.00:60:58.6:0:0:31:120:31:NM_018010.3(IFT57) c.494+96T>C,NM_018010.3(IFT57) c.494+96T>C:0.77,0.77:NOT_FOUND,NOT_FOUND 3 107937501 . C . . NT END=107938256;NT GT ./. 3 107937544 rs2305447 C T 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.875,T/0.125;Gene=IFT57/NM_018010.3/1;CC=c.376-44G>A;VC=Intron;DM=IFT57/IFT57;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:15:6:0:0:7,8:235,257:0.00,25.01:0.00,10.38:0.00,14.63:0.00,1.00:0.00,0.98:0.00,1.00:60,60:58.9,69.9:0,0:0,0:71,96:79,53:38,36:-,NM_018010.3(IFT57) c.376-44G>A:-,0.13:-,0.148686 3 107937571 rs1289759 G A 44 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.3319,A/0.6681;Gene=IFT57/NM_018010.3/1;CC=c.376-71C>T;VC=Intron;DM=IFT57/IFT57;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:A:12:1:0:0:12:380:43.72:1.64:42.08:1.00:1.00:1.00:60:77.3:0:0:81:68:19:NM_018010.3(IFT57) c.376-71C>T,NM_018010.3(IFT57) c.376-71C>T:0.68,0.68:NOT_FOUND,NOT_FOUND 3 107937602 rs1289758 C T 41 nt VT=SNV;PN=T;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.3319,T/0.6681;PC=0.025;Gene=IFT57/NM_018010.3/1;CC=c.376-102G>A;VC=Intron;DM=IFT57/IFT57;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:T:12:0:0:0:12:354:41.08:0.00:41.08:1.00:0.00:1.00:60:75.7:0:0:105:45:22:NM_018010.3(IFT57) c.376-102G>A,NM_018010.3(IFT57) c.376-102G>A:0.68,0.68:NOT_FOUND,NOT_FOUND 3 107938060 rs1289755 A G 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3319,G/0.6681;PC=0.001;Gene=IFT57/NM_018010.3/1;CC=c.375+197T>C;VC=Intron;DM=IFT57/IFT57;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:152:17.58:17.58:0.00:1.00:1.00:0.00:60:34.6:0:0:64:86:17:NM_018010.3(IFT57) c.375+197T>C,NM_018010.3(IFT57) c.375+197T>C:0.68,0.68:NOT_FOUND,NOT_FOUND 3 107938240 rs1289754 G C 177 nt VT=SNV;PN=A;NN=G;SST=Single;DP=47;DB;DBA=NA;PAF=G/0.3319,C/0.6681,T/.;Gene=IFT57/NM_018010.3/1;CC=c.375+17C>G;VC=Intron;DM=IFT57/IFT57;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:131:C:47:42:0:0:47:1542:176.61:140.19:36.42:1.00:1.00:1.00:60:39.6:0:0:50:97:27:NM_018010.3(IFT57) c.375+17C>G,NM_018010.3(IFT57) c.375+17C>G:0.68,0.68:0.807473,0.807473 3 107938420 . C . . NT END=107940864;NT GT ./. 3 107938584 rs1289753 C T 55 nt VT=SNV;PN=G;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=NA;Gene=IFT57/NM_018010.3/1;CC=c.213-165G>A;VC=Intron;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:T:17:1:0:0:17:468:54.87:3.58:51.29:1.00:1.00:1.00:60:36.3:0:0:83:68:33:NM_018010.3(IFT57) c.213-165G>A,NM_018010.3(IFT57) c.213-165G>A:0.42,0.42:NOT_FOUND,NOT_FOUND 3 107940569 rs200960846 A G,AG 10 end,nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=778;PC=0.001;DM=IFT57/IFT57 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:26:G,AG:4:4:3:0:1,3:32,86:3.08,9.65:3.08,9.65:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:32.0,3.7:0,0:0,0:0,33:151,118:0,15:NM_018010.3(IFT57) c.212+389T>C,NM_018010.3(IFT57) c.212+388_212+389insC:NOT_FOUND,0.99:NOT_FOUND,NOT_FOUND 3 107940636 rs10609787 ATT A 59 nt VT=DEL;SST=Single;DP=18;DB;DBA=NA;PAF=ATT/0.3329,A/0.6671;NP=7;PC=0.122;Gene=IFT57/NM_018010.3/1;CC=c.212+320_212+321delAA;VC=Intron;DM=IFT57/IFT57;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:12:ATT,A:18:18:0:17:1,17:32,530:0.00,59.43:0.00,59.43:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:99.0,20.0:1,0:0,0:64,33:57,118:0,19:NM_018010.3(IFT57) c.212+320_212+321delAA,NM_018010.3(IFT57) c.212+320_212+321delAA:0.68,0.68:NOT_FOUND,NOT_FOUND 3 107941170 . C . . NT END=108047150;NT GT ./. 3 107973541 rs6795542 A G 15 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2378,G/0.7622;PC=0.008 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:1:0:0:4:127:14.61:1.99:12.62:1.00:1.00:1.00:60:45.8:0:0:64:63:12:chr3 g.107973540A>G (intergenic),chr3 g.107973540A>G (intergenic):0.77,0.77:NOT_FOUND,NOT_FOUND 3 108003743 rs9881445 A G 14 sb,nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.2494,G/0.7506 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:4:0:0:4:120:13.91:11.92:1.99:1.00:1.00:1.00:60:44.0:0:0:31:116:15:chr3 g.108003742A>G (intergenic),chr3 g.108003742A>G (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 3 108003874 rs2085404 C T 14 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.2496,T/0.7504 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:1:0:0:4:124:14.31:1.89:12.42:1.00:1.00:1.00:60:57.2:0:0:87:56:15:chr3 g.108003873C>T (intergenic),chr3 g.108003873C>T (intergenic):0.75,0.75:NOT_FOUND,NOT_FOUND 3 108046983 rs397876581 GA G 7 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.003;Gene=HHLA2/NM_001282556.1/0;CC=c.-27+17406delA;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.-104-123delA;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.-34-123delA;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.-104-123delA;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.-104-123delA;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:GA,G:14:14:0:3:11,3:353,86:0.00,6.87:0.00,6.87:0.00,0.00:0.00,0.56:0.00,0.56:0.00,0.00:60,60:24.2,16.0:0,0:0,0:14,65:135,84:9,43:-,NM_007072.2(HHLA2) c.-104-133delA:-,NOT_FOUND:-,NOT_FOUND 3 108047195 . G . . NT END=108070634;NT GT ./. 3 108070556 rs9846218 T C 60 nt VT=SNV;PN=T;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.4129,C/0.5871;Gene=HHLA2/NM_001282556.1/0;CC=c.-26-79T>C;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.-26-79T>C;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.45-79T>C;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.-26-79T>C;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.-26-79T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:C:16:14:0:0:16:526:60.22:48.36:11.86:1.00:1.00:1.00:60:39.9:0:0:44:106:33:NM_007072.2(HHLA2) c.-26-79T>C,NM_007072.2(HHLA2) c.-26-79T>C:0.56,0.56:NOT_FOUND,NOT_FOUND 3 108070725 . G . . NT END=108072273;NT GT ./. 3 108072243 rs6766283 C T 110 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.4123,G/.,T/0.5877;PC=0.032;Gene=HHLA2/NM_001282556.1/0;CC=c.65-31C>T;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.65-31C>T;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.135-293C>T;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.65-31C>T;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.65-31C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:82:T:31:28:0:0:31:958:110.45:87.24:23.21:1.00:1.00:1.00:60:68.7:0:0:56:95:37:NM_007072.2(HHLA2) c.65-31C>T,NM_007072.2(HHLA2) c.65-31C>T:0.56,0.56:0.70931,0.70931 3 108072298 rs6779254 T C 209 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=55;DB;DBA=NA;PAF=T/0.4095,C/0.5905;Gene=HHLA2/NM_001282556.1/0;CC=c.89T>C;ProtCh=p.I30T;VC=Missense;Gene=HHLA2/NM_001282558.1/0;CC=c.89T>C;ProtCh=p.I30T;VC=Missense;Gene=HHLA2/NM_001282559.1/1;CC=c.135-238T>C;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.89T>C;ProtCh=p.I30T;VC=Missense;Gene=HHLA2/NM_001282557.1/0;CC=c.89T>C;ProtCh=p.I30T;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:C:55:48:0:0:55:1831:209.29:149.34:59.95:1.00:1.00:1.00:60:54.4:0:0:43:102:22:NM_007072.2(HHLA2) c.89T>C (p.Ile30Thr),NM_007072.2(HHLA2) c.89T>C (p.Ile30Thr):0.56,0.56:0.704538,0.704538 3 108072628 . G . . NT END=108073961;NT GT ./. 3 108072704 rs6779650 T C 109 nt VT=SNV;PN=A;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.4894,C/0.5106;Gene=HHLA2/NM_001282556.1/0;CC=c.418+77T>C;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.418+77T>C;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.226+77T>C;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.418+77T>C;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.418+77T>C;VC=Intron;DM=HHLA2/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:3:0:0:33:939:109.49:10.83:98.66:1.00:1.00:1.00:60:37.3:0:0:104:47:39:NM_007072.2(HHLA2) c.418+77T>C,NM_007072.2(HHLA2) c.418+77T>C:0.49,0.49:NOT_FOUND,NOT_FOUND 3 108072869 rs6793736 A G 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.4129,G/0.5871;Gene=HHLA2/NM_001282556.1/0;CC=c.418+242A>G;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.418+242A>G;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.226+242A>G;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.418+242A>G;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.418+242A>G;VC=Intron;DM=HHLA2/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:205:23.78:0.00:23.78:1.00:0.00:1.00:60:55.6:0:0:135:15:4:NM_007072.2(HHLA2) c.418+242A>G,NM_007072.2(HHLA2) c.418+242A>G:0.56,0.56:NOT_FOUND,NOT_FOUND 3 108074229 . G . . NT END=108076690;NT GT ./. 3 108077009 . G . . NT END=108081188;NT GT ./. 3 108081175 . CT C 12 idl,rn VT=DEL;SST=Single;DP=45;NP=108;PC=0.941;Gene=HHLA2/NM_001282556.1/0;CC=c.1004-3delT;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.1004-3delT;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.812-3delT;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.1004-3delT;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.1004-3delT;VC=Intron;DM=HHLA2/V-set;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:CT,I,C:43:39:5:7:33,5,5:1024,155,212:0.00,11.43,11.73:0.00,9.12,10.58:0.00,2.31,1.15:0.00,0.00,0.74:0.00,0.00,0.96:0.00,0.00,0.80:60,60,60:19.8,20.4,43.2:1,0,2:0,0,0:36,56,59:90,91,82:29,20,16:-,NM_007072.2(HHLA2) c.1004-13delT:-,NOT_FOUND:-,NOT_FOUND 3 108081247 rs16854512 G A 80 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.8456,A/0.1544;Gene=HHLA2/NM_001282556.1/0;CC=c.1062G>A;ProtCh=p.A354=;VC=Silent;Gene=HHLA2/NM_001282558.1/0;CC=c.1062G>A;ProtCh=p.A354=;VC=Silent;Gene=HHLA2/NM_001282559.1/1;CC=c.870G>A;ProtCh=p.A290=;VC=Silent;Gene=HHLA2/NM_007072.3/0;CC=c.1062G>A;ProtCh=p.A354=;VC=Silent;Gene=HHLA2/NM_001282557.1/0;CC=c.1062G>A;ProtCh=p.A354=;VC=Silent;DM=HHLA2/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:58:36:0:0:26,32:853,1042:80.38,0.00:33.01,0.00:47.38,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,9.1:0,0:0,0:68,64:71,71:32,24:NM_007072.2(HHLA2) c.1062G>A (p.(=)),-:0.15,-:0.199173,- 3 108081294 . G . . NT END=108095339;NT GT ./. 3 108095127 rs9874204 G C 29 nt VT=SNV;PN=C;NN=G;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=HHLA2/NM_001282556.1/0;CC=c.1160-213G>C;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.1109-213G>C;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.968-213G>C;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.1160-213G>C;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.1160-213G>C;VC=Intron;DM=HHLA2/V-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:8:0:0:8:247:28.51:28.51:0.00:1.00:1.00:0.00:60:39.2:0:0:64:86:40:NM_007072.2(HHLA2) c.1160-213G>C,NM_007072.2(HHLA2) c.1160-213G>C:0.7,0.7:NOT_FOUND,NOT_FOUND 3 108095405 . G . . NT END=108096104;NT GT ./. 3 108096098 rs1463426 C G 72 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.3055,G/0.6945;PC=0.027;Gene=HHLA2/NM_001282556.1/0;CC=c.1225-7C>G;VC=Intron;Gene=HHLA2/NM_001282558.1/0;CC=c.1174-7C>G;VC=Intron;Gene=HHLA2/NM_001282559.1/1;CC=c.1033-7C>G;VC=Intron;Gene=HHLA2/NM_007072.3/0;CC=c.1225-7C>G;VC=Intron;Gene=HHLA2/NM_001282557.1/0;CC=c.1225-7C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C,G:21:17:0:0:1,20:12,641:0.00,72.02:0.00,41.13:0.00,30.89:0.00,1.00:0.00,1.00:0.00,1.00:60,60:23.0,35.2:0,0:0,0:87,66:63,83:0,27:NM_007072.2(HHLA2) c.1225-7C>G,NM_007072.2(HHLA2) c.1225-7C>G:0.7,0.7:0.908342,0.908342 3 108096126 . G . . NT END=108100391;NT GT ./. 3 108096227 rs1463425 G C 28 nt VT=SNV;PN=A;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=NA;Gene=HHLA2/NM_001282556.1/0;CC=c.*102G>C;VC=3UTR;Gene=HHLA2/NM_001282558.1/0;CC=c.*102G>C;VC=3UTR;Gene=HHLA2/NM_001282559.1/1;CC=c.*102G>C;VC=3UTR;Gene=HHLA2/NM_007072.3/0;CC=c.*102G>C;VC=3UTR;Gene=HHLA2/NM_001282557.1/0;CC=c.*102G>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:C:8:0:0:0:8:243:28.08:0.00:28.08:1.00:0.00:1.00:60:34.2:0:0:72:78:49:NM_007072.2(HHLA2) c.=,NM_007072.2(HHLA2) c.=:1,1:NOT_FOUND,NOT_FOUND 3 108100407 . C . . NT END=108102441;NT GT ./. 3 108102577 . C . . NT END=108103533;NT GT ./. 3 108102584 rs141454667 A AAC 8 nt VT=INS;SST=Single;DP=42;DB;DBA=NA;PAF=NA;NP=1;NP=93;PC=0.997;Gene=MYH15/NM_014981.1/1;CC=c.5692-9_5692-8insGT;VC=Intron;DM=MYH15/Myosin_tail_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:21:A,AAC:42:25:4:0:38,4:1178,116:0.00,7.78:0.00,4.48:0.00,3.30:0.00,0.58:0.00,0.82:0.00,0.90:60,60:41.9,52.0:26,0:0,0:87,93:46,57:33,13:-,NM_014981.1(MYH15) c.5692-9_5692-8insGT:-,0.17:-,NOT_FOUND 3 108102585 rs138733417 A AC 9 nt VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;NP=30;PC=0.998;Gene=MYH15/NM_014981.1/1;CC=c.5692-10_5692-9insG;VC=Intron;DM=MYH15/Myosin_tail_1;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:34:A,AC:41:24:4:0:37,4:1134,126:0.00,8.82:0.00,4.83:0.00,3.99:0.00,0.58:0.00,0.82:0.00,0.91:60,60:37.8,91.5:25,0:0,0:91,69:49,61:31,18:-,NM_014981.1(MYH15) c.5692-10_5692-9insG:-,NOT_FOUND:-,NOT_FOUND 3 108102586 rs7426463 T A,TA 56 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=37;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.3518,A/0.6482,C/.;NP=10;NP=17;NP=18;NP=23;NP=3;NP=33;NP=75;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:178:A,C,T,TA,D:35:21:11:2:17,2,5,10,1:551,69,153,344,60:56.13,5.20,0.00,29.50,1.76:19.95,2.66,0.00,11.51,-0.02:36.18,2.54,0.00,17.99,1.78:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:1.00,0.00,0.00,0.00,0.00:60,60,60,60,60:80.8,46.5,12.8,12.2,88.0:11,0,0,1,1:0,0,0,0,0:84,115,130,78,54:64,16,19,57,96:26,15,15,23,17:NM_014981.1(MYH15) c.5692-10A>T,NM_014981.1(MYH15) c.5692-11_5692-10insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 108103427 rs2290600 A C 45 nt VT=SNV;PN=G;NN=G;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.5433,C/0.4567;Gene=MYH15/NM_014981.1/1;CC=c.5691+107T>G;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:22:22:0:0:9,13:240,455:0.00,45.28:0.00,45.28:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:48.2,71.1:0,0:0,0:37,49:114,101:12,34:-,NM_014981.1(MYH15) c.5691+107T>G:-,0.42:-,NOT_FOUND 3 108103433 rs3860537 T C 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=22;DB;DBA=NA;PAF=T/0.08726,C/0.9127;Gene=MYH15/NM_014981.1/1;CC=c.5691+101A>G;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:C:22:22:0:0:22:715:81.94:81.94:0.00:1.00:1.00:0.00:60:61.7:0:0:45:105:25:NM_014981.1(MYH15) c.5691+101A>G,NM_014981.1(MYH15) c.5691+101A>G:0.88,0.88:NOT_FOUND,NOT_FOUND 3 108103630 . C . . NT END=108107816;NT GT ./. 3 108107704 rs1463431 C T 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.2095,T/0.7905;Gene=MYH15/NM_014981.1/1;CC=c.5595+113G>A;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:55:T:22:22:0:0:22:674:77.81:77.81:0.00:1.00:1.00:0.00:60:39.1:0:0:76:73:32:NM_014981.1(MYH15) c.5595+113G>A,NM_014981.1(MYH15) c.5595+113G>A:0.78,0.78:NOT_FOUND,NOT_FOUND 3 108107922 . C . . NT END=108110606;NT GT ./. 3 108107925 rs7616341 C A 122 nt VT=SNV;PN=G;NN=A;SST=Single;DP=75;DB;DBA=NA;PAF=C/0.7959,A/0.2041;PC=0.097;Gene=MYH15/NM_014981.1/1;CC=c.5491-4G>T;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:75:47:0:0:39,36:1263,1249:122.32,0.00:45.59,0.00:76.74,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.5,8.9:0,0:0,0:88,119:58,29:22,18:NM_014981.1(MYH15) c.5491-4G>T,-:0.2,-:0.268647,- 3 108110778 . C . . NT END=108112877;NT GT ./. 3 108112760 rs2290601 C T 119 nt VT=SNV;PN=C;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=C/0.3409,T/0.6591;Gene=MYH15/NM_014981.1/1;CC=c.5319+118G>A;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:83:T:31:30:0:0:31:1047:119.46:109.71:9.74:1.00:1.00:1.00:60:39.4:0:0:48:103:37:NM_014981.1(MYH15) c.5319+118G>A,NM_014981.1(MYH15) c.5319+118G>A:0.63,0.63:NOT_FOUND,NOT_FOUND 3 108113004 . C . . NT END=108117483;NT GT ./. 3 108117356 rs66851291 T TG 41 nt VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.3456,TG/0.6544;NP=2597;Gene=MYH15/NM_014981.1/1;CC=c.5193+127dupC;VC=Intron;DM=MYH15/Myosin_tail_1;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:T,TG:13:13:12:0:1,12:33,373:0.00,41.49:0.00,41.49:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,39.7:0,0:0,0:144,42:2,108:0,28:-,NM_014981.1(MYH15) c.5193+127_5193+128insC:-,0.63:-,NOT_FOUND 3 108117359 rs71633456 C T 50 idl,nt VT=SNV;PN=C;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.4279,T/0.5721;NP=455;Gene=MYH15/NM_014981.1/1;CC=c.5193+125G>A;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:29:T:13:13:0:0:13:442:50.40:50.40:0.00:1.00:1.00:0.00:60:38.8:12:0:38:112:27:NM_014981.1(MYH15) c.5193+125G>A,NM_014981.1(MYH15) c.5193+125G>A:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 108117688 . C . . NT END=108117921;NT GT ./. 3 108117694 rs13087507 G A 119 nt VT=SNV;PN=A;NN=A;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.7993,A/0.2007;PC=0.012;Gene=MYH15/NM_014981.1/1;CC=c.4990-7C>T;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:70:31:0:0:38,32:1219,1072:119.06,0.00:32.59,0.00:86.48,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.9,4.4:0,0:0,0:91,104:58,40:20,29:NM_014981.1(MYH15) c.4990-7C>T,-:0.2,-:0.267777,- 3 108118115 . C . . NT END=108124184;NT GT ./. 3 108124301 . C . . NT END=108127126;NT GT ./. 3 108126872 rs3957543 T C 31 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6066,C/0.3934;Gene=MYH15/NM_014981.1/1;CC=c.4680+255A>G;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:9:0:0:9:265:30.76:30.76:0.00:1.00:1.00:0.00:60:36.9:0:0:14:136:6:NM_014981.1(MYH15) c.4680+255A>G,NM_014981.1(MYH15) c.4680+255A>G:0.38,0.38:NOT_FOUND,NOT_FOUND 3 108127252 . C . . NT END=108129429;NT GT ./. 3 108129348 rs1078455 T C 44 nt VT=SNV;PN=A;NN=G;SST=Single;DP=26;DB;DBA=NA;PAF=T/0.8185,C/0.1815;PC=0.001;Gene=MYH15/NM_014981.1/1;CC=c.4555+82A>G;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:26:26:0:0:15,11:449,321:44.34,0.00:39.04,0.00:5.31,0.00:1.00,0.00:1.00,0.00:0.93,0.00:60,60:41.6,14.1:0,0:0,0:27,37:123,114:14,21:NM_014981.1(MYH15) c.4555+82A>G,-:0.19,-:NOT_FOUND,- 3 108129780 . C . . NT END=108133078;NT GT ./. 3 108133276 . C . . NT END=108135658;NT GT ./. 3 108135439 rs13088768 C G 33 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6663,G/0.3337;Gene=MYH15/NM_014981.1/1;CC=c.4008+220G>C;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:G:10:10:0:0:10:281:32.81:32.81:0.00:1.00:1.00:0.00:60:57.1:0:0:20:130:16:NM_014981.1(MYH15) c.4008+220G>C,NM_014981.1(MYH15) c.4008+220G>C:0.32,0.32:NOT_FOUND,NOT_FOUND 3 108135606 rs56933265 TAA T 62 nt VT=DEL;SST=Single;DP=23;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2080;Gene=MYH15/NM_014981.1/1;CC=c.4008+51_4008+52delTT;VC=Intron;DM=MYH15/Myosin_tail_1;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:TAA,T:23:22:0:18:5,18:132,582:0.00,61.60:0.00,54.46:0.00,7.14:0.00,1.00:0.00,1.00:0.00,0.99:60,60:49.6,6.8:0,0:0,0:145,43:5,106:3,24:-,NM_014981.1(MYH15) c.4008+51_4008+52delTT:-,NOT_FOUND:-,NOT_FOUND 3 108135609 rs116262927 A T 59 idl,nt VT=SNV;PN=A;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.08886,T/0.9111;Gene=MYH15/NM_014981.1/1;CC=c.4008+50T>A;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:A,T:20:19:0:0:3,17:70,550:0.00,59.47:0.00,53.76:0.00,5.71:0.00,1.00:0.00,1.00:0.00,0.98:60,60:66.7,7.2:0,17:0,0:146,35:4,116:2,21:-,NM_014981.1(MYH15) c.4008+50T>A:-,NOT_FOUND:-,NOT_FOUND 3 108135778 . C . . NT END=108139934;NT GT ./. 3 108135799 rs11927603 C G 179 nt VT=SNV;PN=A;NN=T;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.3592,G/0.6408;Gene=MYH15/NM_014981.1/1;CC=c.3890-22G>C;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:123:G,T:48:23:0:0:47,1:1571,10:179.04,0.19:52.86,0.00:126.18,0.19:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.3,20.0:0,0:0,0:98,115:41,34:23,0:NM_014981.1(MYH15) c.3890-22G>C,NM_014981.1(MYH15) c.3890-22G>C:0.63,0.63:0.533086,0.533086 3 108140062 . C . . NT END=108147338;NT GT ./. 3 108140148 rs4593038 A G 122 nt VT=SNV;PN=C;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=3426;Gene=MYH15/NM_014981.1/1;CC=c.3763-87T>C;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:G:34:12:0:0:34:1063:122.48:22.41:100.06:1.00:1.00:1.00:60:37.2:0:0:106:44:33:NM_014981.1(MYH15) c.3763-87T>C,NM_014981.1(MYH15) c.3763-87T>C:1,1:NOT_FOUND,NOT_FOUND 3 108147145 rs1817233 T A 59 nt VT=SNV;PN=C;NN=G;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.2608,A/0.7392;Gene=MYH15/NM_014981.1/1;CC=c.3762+194A>T;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:38:A:16:16:0:0:16:510:58.62:58.62:0.00:1.00:1.00:0.00:60:39.6:0:0:48:102:22:NM_014981.1(MYH15) c.3762+194A>T,NM_014981.1(MYH15) c.3762+194A>T:0.73,0.73:NOT_FOUND,NOT_FOUND 3 108147295 rs1350235 C A 132 nt VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.2608,A/0.7392;Gene=MYH15/NM_014981.1/1;CC=c.3762+44G>T;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:106:A:39:32:0:0:39:1131:131.56:99.29:32.27:1.00:1.00:1.00:60:46.3:0:0:41:110:27:NM_014981.1(MYH15) c.3762+44G>T,NM_014981.1(MYH15) c.3762+44G>T:0.73,0.73:0.849068,0.849068 3 108147728 rs3900940 T C 218 nt VT=SNV;PN=G;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.8311,C/0.1689;PC=1.000;Gene=MYH15/NM_014981.1/1;CC=c.3373A>G;ProtCh=p.T1125A;VC=Missense;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:176:C:63:20:0:0:63:1884:218.07:50.85:167.22:1.00:1.00:1.00:60:42.1:0:0:106:42:33:NM_014981.1(MYH15) c.3373A>G (p.Thr1125Ala),NM_014981.1(MYH15) c.3373A>G (p.Thr1125Ala):0.18,0.18:0.242864,0.242864 3 108147729 . C . . NT END=108149678;NT GT ./. 3 108149770 . C . . NT END=108156400;NT GT ./. 3 108156547 . C . . NT END=108158583;NT GT ./. 3 108156633 rs78759585 A AAAAG 53 sb,nt VT=INS;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.1627,AAAAG/0.8373;DB;DBA=NA;PAF=A/0.1627,AAAAG/0.8373;DB;DBA=NA;PAF=NA;NP=2965;PC=0.003;Gene=MYH15/NM_014981.1/1;CC=c.3136-91_3136-88dupCTTT;VC=Intron;DM=MYH15/Myosin_tail_1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,AAAAG:24:3:16:0:8,16:233,515:0.00,52.52:0.00,1.37:0.00,51.14:0.00,1.00:0.00,0.97:0.00,1.00:60,70:3.4,3.8:0,0:0,0:142,101:7,49:4,24:-,NM_014981.1(MYH15) c.3136-88_3136-87insCTTT:-,NOT_FOUND:-,NOT_FOUND 3 108158574 rs3996040 C T 298 nt VT=SNV;PN=C;NN=G;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.3994,T/0.6006;Gene=MYH15/NM_014981.1/1;CC=c.3135+10G>A;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:77:70:0:0:1,76:7,2618:0.06,297.61:0.06,222.71:0.00,74.90:0.00,1.00:0.00,1.00:0.00,1.00:60,60:143.0,37.4:0,0:0,0:128,38:22,104:0,29:NM_014981.1(MYH15) c.3135+10G>A,NM_014981.1(MYH15) c.3135+10G>A:0.62,0.62:0.778827,0.778827 3 108158761 . C . . NT END=108159864;NT GT ./. 3 108160108 . C . . NT END=108163486;NT GT ./. 3 108160339 rs7652606 G A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.249,A/0.751;PC=1.000;Gene=MYH15/NM_014981.1/1;CC=c.2716-232C>T;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:145:16.86:0.00:16.86:1.00:0.00:1.00:60:61.0:0:0:105:46:12:NM_014981.1(MYH15) c.2716-232C>T,NM_014981.1(MYH15) c.2716-232C>T:0.79,0.79:NOT_FOUND,NOT_FOUND 3 108163303 rs3996017 C T 26 nt VT=SNV;PN=C;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.2804,T/0.7196;Gene=MYH15/NM_014981.1/1;CC=c.2715+184G>A;VC=Intron;DM=MYH15/Myosin_tail_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:229:26.24:26.24:0.00:1.00:1.00:0.00:60:32.7:0:0:50:101:14:NM_014981.1(MYH15) c.2715+184G>A,NM_014981.1(MYH15) c.2715+184G>A:0.75,0.75:NOT_FOUND,NOT_FOUND 3 108163743 . C . . NT END=108172852;NT GT ./. 3 108172817 rs6437783 C T 74 nt VT=SNV;PN=A;NN=C;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.4431,T/0.5569;Gene=MYH15/NM_014981.1/1;CC=c.2459+36G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:18:0:0:20:643:73.81:50.70:23.11:1.00:1.00:1.00:60:38.0:0:0:49:101:26:NM_014981.1(MYH15) c.2459+36G>A,NM_014981.1(MYH15) c.2459+36G>A:0.57,0.57:0.779448,0.779448 3 108172990 . C . . NT END=108174582;NT GT ./. 3 108174707 . C . . NT END=108175612;NT GT ./. 3 108175731 . C . . NT END=108178208;NT GT ./. 3 108175734 rs532666695 G GA 9 rn VT=INS;SST=Single;DP=34;DB;DBA=NA;PAF=NA;NP=14;PC=0.027;Gene=MYH15/NM_014981.1/1;CC=c.2081-5dupT;VC=Intron;DM=MYH15/Myosin_head;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:G,T,GA:34:22:4:0:28,2,4:817,32,121:0.00,1.19,8.78:0.00,1.25,3.28:0.00,-0.05,5.50:0.00,0.00,0.62:0.00,0.00,0.86:0.00,0.00,0.84:60,60,60:18.4,64.5,5.2:0,0,0:0,0,0:105,139,76:42,11,65:25,6,9:-,NM_014981.1(MYH15) c.2081-5_2081-4insT:-,NOT_FOUND:-,NOT_FOUND 3 108178297 . C . . NT END=108179146;NT GT ./. 3 108179215 . C . . NT END=108181957;NT GT ./. 3 108179219 rs11303627 CA C 8 idl,rn VT=DEL;SST=Single;DP=30;DB;DBA=NA;PAF=NA;NP=661;PC=0.156;Gene=MYH15/NM_014981.1/1;CC=c.1925-6delT;VC=Intron;DM=MYH15/Myosin_head;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:9:CA,I,C:26:17:5:5:20,3,3:616,154,157:0.00,6.72,7.62:0.00,1.02,5.29:0.00,5.70,2.33:0.00,0.00,0.43:0.00,0.00,0.73:0.00,0.00,0.83:60,60,70:15.9,37.7,37.3:0,2,2:0,0,0:89,113,82:41,38,69:25,15,30:-,NM_014981.1(MYH15) c.1925-6delT:-,NOT_FOUND:-,NOT_FOUND 3 108182091 . C . . NT END=108183484;NT GT ./. 3 108182450 rs6781801 G A,C 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.8373,A/0.1627;PC=0.014;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/2:3:A,C:4:1:0:0:3,1:105,7:11.56,0.58:3.65,0.00:7.90,0.58:0.85,0.00:0.83,0.00:0.99,0.00:60,60:39.0,76.0:0,0:0,0:64,17:87,134:3,0:NM_014981.1(MYH15) c.1792-360C>T,NM_014981.1(MYH15) c.1792-360C>G:0.18,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 108183662 . C . . NT END=108188888;NT GT ./. 3 108188755 rs11917965 A C 60 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.7728,C/0.2272;PC=0.001;Gene=MYH15/NM_014981.1/1;CC=c.1614+134T>G;VC=Intron;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:C:17:17:0:0:17:524:60.48:60.48:0.00:1.00:1.00:0.00:60:40.6:0:0:59:92:29:NM_014981.1(MYH15) c.1614+134T>G,NM_014981.1(MYH15) c.1614+134T>G:0.24,0.24:NOT_FOUND,NOT_FOUND 3 108188993 rs9868484 G A 225 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=61;DB;DBA=NA;PAF=G/0.4836,A/0.5164;PC=1.000;Gene=MYH15/NM_014981.1/1;CC=c.1510C>T;ProtCh=p.H504Y;VC=Missense;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:173:A:61:41:0:0:61:1956:224.68:102.96:121.72:1.00:1.00:1.00:60:37.7:0:0:88:59:31:NM_014981.1(MYH15) c.1510C>T (p.His504Tyr),NM_014981.1(MYH15) c.1510C>T (p.His504Tyr):0.53,0.53:0.71149,0.71149 3 108189060 . C . . NT END=108189544;NT GT ./. 3 108189695 . C . . NT END=108195243;NT GT ./. 3 108189750 rs12495639 C T 214 nt VT=SNV;PN=C;NN=G;SST=Single;DP=59;DB;DBA=NA;PAF=NA;NP=3446;Gene=MYH15/NM_014981.1/1;CC=c.1294-56G>A;VC=Intron;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:G,T:59:12:0:0:1,58:12,1866:0.24,213.74:0.00,27.19:0.24,186.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:125.0,41.6:0,0:0,0:132,107:11,35:0,21:NM_014981.1(MYH15) c.1294-56G>A,NM_014981.1(MYH15) c.1294-56G>A:1,1:NOT_FOUND,NOT_FOUND 3 108195363 . C . . NT END=108203937;NT GT ./. 3 108195406 rs3996003 C T 90 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8319,T/0.1681;Gene=MYH15/NM_014981.1/1;CC=c.1175-44G>A;VC=Intron;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:T:24:8:0:0:24:788:90.25:20.77:69.47:1.00:1.00:1.00:60:40.7:0:0:101:43:32:NM_014981.1(MYH15) c.1175-44G>A,NM_014981.1(MYH15) c.1175-44G>A:0.18,0.18:0.240516,0.240516 3 108204077 . C . . NT END=108205269;NT GT ./. 3 108205374 . C . . NT END=108211346;NT GT ./. 3 108211075 rs11922257 T A 13 nt VT=SNV;PN=C;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=NA;NP=44;Gene=MYH15/NM_014981.1/1;CC=c.931+272A>T;VC=Intron;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:28:A,T:5:3:0:0:4,1:124,35:13.22,0.00:6.26,0.00:6.96,0.00:0.96,0.00:0.99,0.00:0.97,0.00:60,60:62.8,24.0:0,1:0,0:73,17:63,134:34,0:NM_014981.1(MYH15) c.931+272A>T,-:NOT_FOUND,-:NOT_FOUND,- 3 108211082 rs67882519 CCTCTGCTG C 14 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;NP=8;Gene=MYH15/NM_014981.1/1;CC=c.931+257_931+264delCAGCAGAG;VC=Intron;DM=MYH15/Myosin_head;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:2:0:5:4:119:13.81:6.85:6.95:1.00:1.00:1.00:60:62.8:0:0:80:56:34:NM_014981.1(MYH15) c.931+257_931+264delCAGCAGAG,NM_014981.1(MYH15) c.931+257_931+264delCAGCAGAG:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 108211443 . C . . NT END=108211960;NT GT ./. 3 108211869 rs61139688 A AAAGG 40 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1458;NP=22;NP=3;Gene=MYH15/NM_014981.1/1;CC=c.835+91_835+92insCCTT;VC=Intron;DM=MYH15/Myosin_head;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:116:A,AAAGG:16:16:12:0:4,12:134,385:0.00,40.32:0.00,40.62:0.00,-0.30:0.00,1.00:0.00,1.00:0.00,0.83:60,60:5.2,1.9:1,0:0,0:78,42:67,108:36,15:-,NM_014981.1(MYH15) c.835+91_835+92insCCTT:-,NOT_FOUND:-,NOT_FOUND 3 108212025 . C . . NT END=108214626;NT GT ./. 3 108212151 rs397811424 C CA 8 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=316;PC=0.518;Gene=MYH15/NM_014981.1/1;CC=c.772-128_772-127insT;VC=Intron;DM=MYH15/Myosin_head;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:28:A,C,CA,D:10:1:3:1:2,4,3,1:60,131,85,15:5.17,0.00,7.74,0.82:-0.05,0.00,-0.08,-0.02:5.22,0.00,7.82,0.84:0.00,0.00,0.62,0.00:0.00,0.00,0.53,0.00:0.00,0.00,0.62,0.00:60,60,60,60:123.5,57.5,73.3,150.0:1,0,0,0:0,0,0,0:81,140,77,82:37,10,70,68:36,7,17,0:-,NM_014981.1(MYH15) c.772-128_772-127insT:-,NOT_FOUND:-,NOT_FOUND 3 108214537 rs2603140 T G 54 nt VT=SNV;PN=A;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=2681;Gene=MYH15/NM_014981.1/1;CC=c.771+90A>C;VC=Intron;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:G:14:14:0:0:14:478:54.48:54.48:0.00:1.00:1.00:0.00:60:60.6:0:0:46:105:31:NM_014981.1(MYH15) c.771+90A>C,NM_014981.1(MYH15) c.771+90A>C:1,1:NOT_FOUND,NOT_FOUND 3 108214720 . C . . NT END=108216898;NT GT ./. 3 108216993 . C . . NT END=108218301;NT GT ./. 3 108218330 . C . . NT END=108218964;NT GT ./. 3 108219122 . C . . NT END=108220558;NT GT ./. 3 108219393 rs2603133 G A 19 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.2089,A/0.7911;PC=0.001;Gene=MYH15/NM_014981.1/1;CC=c.400-272C>T;VC=Intron;DM=MYH15/Myosin_head GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:163:18.68:0.00:18.68:1.00:0.00:1.00:60:55.6:0:0:118:33:10:NM_014981.1(MYH15) c.400-272C>T,NM_014981.1(MYH15) c.400-272C>T:0.78,0.78:NOT_FOUND,NOT_FOUND 3 108220703 . C . . NT END=108224569;NT GT ./. 3 108224677 . C . . NT END=108229289;NT GT ./. 3 108224685 . CA C 11 idl,rn VT=DEL;SST=Single;DP=53;NP=5;PC=0.105;Gene=MYH15/NM_014981.1/1;CC=c.149-10delT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:41:A,CA,I,C:47:28:4:11:4,34,4,5:64,1108,116,343:3.03,0.00,7.87,11.21:-0.56,0.00,2.19,0.62:3.59,0.00,5.68,10.59:0.00,0.00,0.00,0.71:0.00,0.00,0.00,0.85:0.00,0.00,0.00,0.94:60,60,70,60:64.8,4.7,30.8,12.8:1,0,0,6:0,0,0,0:69,114,86,87:79,29,64,61:43,19,10,24:-,NM_014981.1(MYH15) c.149-10delT:-,NOT_FOUND:-,NOT_FOUND 3 108229122 rs3843872 C G 52 nt VT=SNV;PN=C;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.8462,G/0.1538;Gene=MYH15/NM_014981.1/1;CC=c.148+168G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:G:15:15:0:0:15:444:51.53:51.53:0.00:1.00:1.00:0.00:60:65.8:0:0:22:128:9:NM_014981.1(MYH15) c.148+168G>C,NM_014981.1(MYH15) c.148+168G>C:0.17,0.17:NOT_FOUND,NOT_FOUND 3 108229171 rs2249886 T C 107 nt VT=SNV;PN=A;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=NA;Gene=MYH15/NM_014981.1/1;CC=c.148+119A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:74:C:28:27:0:0:28:936:106.95:103.47:3.48:1.00:1.00:1.00:60:50.4:0:0:47:103:22:NM_014981.1(MYH15) c.148+119A>G,NM_014981.1(MYH15) c.148+119A>G:1,1:NOT_FOUND,NOT_FOUND 3 108229435 . C . . NT END=108248109;NT GT ./. 3 108229437 rs397990750 G GA 158 idl,rn VT=INS;SST=Single;DP=72;DB;DBA=NA;PAF=G/0.5992,GA/0.4008,GAA/.,GAAA/.;DB;DBA=NA;PAF=G/0.5992,GA/0.4008;NP=800;PC=0.496;Gene=MYH15/NM_014981.1/1;CC=c.4-4dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,GA:69:38:53:0:1,18,50:33,556,1611:1.82,0.00,158.48:-0.05,0.00,58.93:1.86,0.00,99.55:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,70:104.0,16.2,19.7:1,0,3:0,0,0:119,132,87:18,16,60:0,12,32:-,NM_014981.1(MYH15) c.4-4_4-3insT:-,NOT_FOUND:-,NOT_FOUND 3 108248113 . G . . NT END=108269995;NT GT ./. 3 108270167 . C . . NT END=108271080;NT GT ./. 3 108271012 rs2305514 T C 126 nt VT=SNV;PN=A;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.6304,C/0.3696;PC=0.002;Gene=KIAA1524/NM_020890.2/1;CC=c.2547+69A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:32:0:0:34:1095:125.68:111.90:13.78:1.00:1.00:1.00:60:40.9:0:0:46:103:29:NM_020890.2(KIAA1524) c.2547+69A>G,NM_020890.2(KIAA1524) c.2547+69A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 3 108271221 . C . . NT END=108272494;NT GT ./. 3 108272578 . C . . NT END=108273222;NT GT ./. 3 108273337 . C . . NT END=108276064;NT GT ./. 3 108273441 rs2045095 T C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6304,C/0.3696;PC=0.002;Gene=KIAA1524/NM_020890.2/1;CC=c.2211-105A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:212:24.06:0.00:24.06:1.00:0.00:1.00:60:35.3:0:0:111:39:6:NM_020890.2(KIAA1524) c.2211-105A>G,NM_020890.2(KIAA1524) c.2211-105A>G:0.42,0.42:NOT_FOUND,NOT_FOUND 3 108276262 . C . . NT END=108278603;NT GT ./. 3 108276264 . C CA 9 idl,rn VT=INS;SST=Single;DP=47;NP=5;PC=0.459;Gene=KIAA1524/NM_020890.2/1;CC=c.2014-4dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:C,CA,D:46:24:5:2:40,4,2:1194,161,68:0.00,8.89,4.26:0.00,5.09,3.51:0.00,3.80,0.75:0.00,0.56,0.00:0.00,0.77,0.00:0.00,0.89,0.00:60,60,60:10.8,0.0,0.0:0,1,0:0,0,0:101,51,77:47,85,73:17,32,5:-,NM_020890.2(KIAA1524) c.2014-4_2014-3insT:-,NOT_FOUND:-,NOT_FOUND 3 108278715 . C . . NT END=108278800;NT GT ./. 3 108278876 . C . . NT END=108279495;NT GT ./. 3 108279689 . C . . NT END=108281972;NT GT ./. 3 108282092 . C . . NT END=108284201;NT GT ./. 3 108283990 rs1454194 T C 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.637,C/0.363;Gene=KIAA1524/NM_020890.2/1;CC=c.1515+212A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:0:6:194:22.26:22.26:0.00:1.00:1.00:0.00:60:52.5:0:0:51:100:23:NM_020890.2(KIAA1524) c.1515+212A>G,NM_020890.2(KIAA1524) c.1515+212A>G:0.41,0.41:NOT_FOUND,NOT_FOUND 3 108284302 . C . . NT END=108285343;NT GT ./. 3 108285486 . G . . NT END=108287001;NT GT ./. 3 108285772 rs1947430 A G 15 nt VT=SNV;PN=A;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6376,G/0.3624;PC=0.802;Gene=KIAA1524/NM_020890.2/1;CC=c.1274-287T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:134:15.31:0.00:15.31:1.00:0.00:1.00:60:75.8:0:0:114:36:7:NM_020890.2(KIAA1524) c.1274-287T>C,NM_020890.2(KIAA1524) c.1274-287T>C:0.41,0.41:NOT_FOUND,NOT_FOUND 3 108286947 rs539133931 G GA 73 rn VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6368,GA/0.3632;DB;DBA=NA;PAF=G/0.6368,GA/0.3632;DB;DBA=NA;PAF=G/0.6368,GA/0.3632;DB;DBA=NA;PAF=G/0.6368,GA/0.3632;NP=1;NP=2405;PC=0.005;Gene=KIAA1524/NM_020890.2/1;CC=c.1273+54dupT;VC=Intron;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:GA:20:20:21:0:20:662:72.51:67.37:5.13:1.00:1.00:1.00:60:3.5:1:0:55:96:24:NM_020890.2(KIAA1524) c.1273+54_1273+55insT,NM_020890.2(KIAA1524) c.1273+54_1273+55insT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 108287162 . C . . NT END=108288235;NT GT ./. 3 108287407 rs10933950 C T 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6402,T/0.3598;Gene=KIAA1524/NM_020890.2/1;CC=c.1114-246G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:191:21.96:0.00:21.96:1.00:0.00:1.00:60:37.2:0:0:79:69:33:NM_020890.2(KIAA1524) c.1114-246G>A,NM_020890.2(KIAA1524) c.1114-246G>A:0.41,0.41:NOT_FOUND,NOT_FOUND 3 108288455 . C . . NT END=108295117;NT GT ./. 3 108295194 . C . . NT END=108298127;NT GT ./. 3 108298274 . C . . NT END=108298412;NT GT ./. 3 108298536 . C . . NT END=108300261;NT GT ./. 3 108300359 . C . . NT END=108300954;NT GT ./. 3 108300478 rs556559445 C CA 6 rn VT=INS;SST=Single;DP=10;DB;DBA=NA;PAF=NA;NP=7;Gene=KIAA1524/NM_020890.2/1;CC=c.453-121dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:70:C,CA:10:1:3:0:7,3:219,77:0.00,6.48:0.00,-0.08:0.00,6.56:0.00,0.62:0.00,0.53:0.00,0.62:60,60:0.0,25.7:0,0:0,0:94,117:56,33:32,10:-,NM_020890.2(KIAA1524) c.453-121_453-120insT:-,NOT_FOUND:-,NOT_FOUND 3 108301050 . C . . NT END=108301823;NT GT ./. 3 108301931 . C . . NT END=108303911;NT GT ./. 3 108304060 . C . . NT END=108308120;NT GT ./. 3 108308223 . T . . NT END=108324253;NT GT ./. 3 108324286 . G . . NT END=108326935;NT GT ./. 3 108327006 . G . . NT END=108330020;NT GT ./. 3 108329888 rs3112026 A G 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=2974;PC=0.001;Gene=DZIP3/NM_014648.3/1;CC=c.103-133A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:G:9:9:0:0:9:304:34.69:34.69:0.00:1.00:1.00:0.00:60:54.6:0:0:33:118:13:NM_014648.3(DZIP3) c.103-133A>G,NM_014648.3(DZIP3) c.103-133A>G:1,1:NOT_FOUND,NOT_FOUND 3 108330177 . G . . NT END=108335387;NT GT ./. 3 108335253 rs75560717 A AT 37 rn VT=INS;SST=Single;DP=16;DB;DBA=NA;PAF=A/0.3892,AT/0.6108;DB;DBA=NA;PAF=NA;NP=929;PC=0.002;Gene=DZIP3/NM_014648.3/1;CC=c.259-123_259-122insT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:112:A,AT:16:16:12:0:4,12:130,348:0.00,36.61:0.00,36.61:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:2.5,37.2:0,0:0,0:91,62:59,87:27,20:-,NM_014648.3(DZIP3) c.259-135_259-134insT:-,NOT_FOUND:-,NOT_FOUND 3 108335505 . G . . NT END=108343290;NT GT ./. 3 108343146 rs34808574 CGTT C 22 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=428;Gene=DZIP3/NM_014648.3/1;CC=c.376-144_376-142delGTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:6:0:7:6:194:22.26:22.26:0.00:1.00:1.00:0.00:70:0.0:0:0:38:111:13:NM_014648.3(DZIP3) c.376-144_376-142delGTT,NM_014648.3(DZIP3) c.376-144_376-142delGTT:0.15,0.15:NOT_FOUND,NOT_FOUND 3 108343372 . G . . NT END=108344691;NT GT ./. 3 108344636 rs5851600 TA T 118 idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=807;PC=0.329;Gene=DZIP3/NM_014648.3/1;CC=c.457-42delA;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:44:TA,T:40:41:0:40:5,35:127,1247:0.00,118.37:0.00,93.91:0.00,24.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.4,10.8:0,5:0,0:136,52:15,89:11,23:-,NM_014648.3(DZIP3) c.457-55delA:-,NOT_FOUND:-,NOT_FOUND 3 108344817 . G . . NT END=108347908;NT GT ./. 3 108348024 . G . . NT END=108351799;NT GT ./. 3 108351920 . G . . NT END=108353717;NT GT ./. 3 108353820 . G . . NT END=108355462;NT GT ./. 3 108355423 rs397990752 AT A 97 rn VT=DEL;SST=Single;DP=29;DB;DBA=NA;PAF=AT/0.003395,A/0.9966;DB;DBA=NA;PAF=AT/0.003395,A/0.9966;NP=3059;PC=0.029;Gene=DZIP3/NM_014648.3/1;CC=c.919-33delT;VC=Intron;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:AT,A:29:26:0:27:2,27:50,868:0.00,96.53:0.00,72.38:0.00,24.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,5.6:0,0:0,0:148,38:2,113:0,25:NM_014648.3(DZIP3) c.919-39delT,NM_014648.3(DZIP3) c.919-39delT:1,1:0.999515,0.999515 3 108355556 . G . . NT END=108356342;NT GT ./. 3 108355575 rs531194676 CT C 36 rn VT=DEL;SST=Single;DP=25;DB;DBA=NA;PAF=CT/0.1224,C/0.8776;DB;DBA=NA;PAF=CT/0.1224,C/0.8776;DB;DBA=NA;PAF=CT/0.1224,C/0.8776;NP=194;PC=0.002;Gene=DZIP3/NM_014648.3/1;CC=c.1011+32delT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,C:24:9:0:13:12,12:398,412:0.00,36.49:0.00,6.07:0.00,30.42:0.00,1.00:0.00,0.99:0.00,1.00:60,60:1.9,1.3:0,1:0,0:123,112:9,39:17,12:-,NM_014648.3(DZIP3) c.1011+21delT:-,NOT_FOUND:-,NOT_FOUND 3 108356396 . G . . NT END=108361284;NT GT ./. 3 108356501 rs201160853 T TTTAAGGTAGTA 56 nt VT=INS;SST=Single;DP=19;DB;DBA=NA;PAF=T/0.001597,TTTAAGGTAGTA/0.9984;DB;DBA=NA;PAF=NA;NP=1;PC=0.034;Gene=DZIP3/NM_014648.3/1;CC=c.1064+114_1064+115insGTATTAAGGTA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:T,TTTAAGGTAGTA:19:0:16:0:3,16:98,518:0.00,55.83:0.00,0.00:0.00,55.83:0.00,1.00:0.00,0.00:0.00,1.00:60,60:31.7,2.3:0,0:0,0:127,90:9,59:1,19:-,NM_014648.3(DZIP3) c.1064+106_1064+107insTTAAGGTAGTA:-,0.99:-,NOT_FOUND 3 108361362 . G . . NT END=108363010;NT GT ./. 3 108363344 rs201852715 C T 136 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=89;DB;DBA=NA;PAF=NA;NP=2;PC=1.000;Gene=DZIP3/NM_014648.3/1;CC=c.1475C>T;ProtCh=p.P492L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:89:62:0:0:46,1,42:1464,9,1425:0.00,-0.13,136.12:0.00,-0.03,81.68:0.00,-0.10,54.44:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:6.7,16.0,42.9:0,0,0:0,0,0:90,29,86:49,121,65:39,0,30:-,NM_014648.3(DZIP3) c.1475C>T (p.Pro492Leu):-,NOT_FOUND:-,0.000154 3 108363629 . G . . NT END=108365463;NT GT ./. 3 108365497 . G . . NT END=108366789;NT GT ./. 3 108366960 . G . . NT END=108367764;NT GT ./. 3 108367810 . G . . NT END=108369983;NT GT ./. 3 108370010 . G . . NT END=108372991;NT GT ./. 3 108373158 . G . . NT END=108380723;NT GT ./. 3 108380820 . G . . NT END=108380976;NT GT ./. 3 108381105 . G . . NT END=108388527;NT GT ./. 3 108381300 rs149342714 A G 12 nt VT=SNV;PN=T;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.9952,G/0.004792;NP=9;PC=0.001;Gene=DZIP3/NM_014648.3/1;CC=c.2423+196A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:131:A,G:9:0:0:0:5,4:143,128:0.00,12.04:0.00,0.00:0.00,12.04:0.00,0.85:0.00,0.00:0.00,0.85:60,60:38.2,46.0:0,0:0,0:81,136:70,13:8,12:-,NM_014648.3(DZIP3) c.2423+196A>G:-,0.01:-,NOT_FOUND 3 108388597 . G . . NT END=108391406;NT GT ./. 3 108391504 . G . . NT END=108392924;NT GT ./. 3 108393029 . G . . NT END=108394632;NT GT ./. 3 108394721 . G . . NT END=108396343;NT GT ./. 3 108396183 rs532821347 A AT 14 rn VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6036,AT/0.3964;DB;DBA=NA;PAF=A/0.6036,AT/0.3964;DB;DBA=NA;PAF=A/0.6036,AT/0.3964;NP=1;NP=61;PC=0.001;Gene=DZIP3/NM_014648.3/1;CC=c.2782-146dupT;VC=Intron;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:A,AT:5:5:4:0:1,4:20,128:0.00,13.63:0.00,13.63:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:19.0,28.5:0,0:0,0:103,25:16,124:0,18:-,NM_014648.3(DZIP3) c.2782-161_2782-160insT:-,NOT_FOUND:-,NOT_FOUND 3 108396446 . G . . NT END=108403062;NT GT ./. 3 108402894 rs35559175 CAT C 71 nt VT=DEL;SST=Single;DP=21;DB;DBA=NA;PAF=CAT/0.8395,C/0.1605;NP=530;PC=0.001;Gene=DZIP3/NM_014648.3/1;CC=c.2884-166_2884-165delAT;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:CAT,C:21:21:0:20:1,20:25,630:0.00,70.80:0.00,70.80:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:11.0,4.5:0,0:0,0:148,63:3,87:0,31:NM_014648.3(DZIP3) c.2884-168_2884-167delAT,NM_014648.3(DZIP3) c.2884-168_2884-167delAT:0.18,0.18:NOT_FOUND,NOT_FOUND 3 108403086 rs9856097 T C 233 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=64;DB;DBA=NA;PAF=T/0.001597,C/0.9984;NP=3474;PC=0.001;Gene=DZIP3/NM_014648.3/1;CC=c.2907T>C;ProtCh=p.P969=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:181:C:64:33:0:0:64:2022:232.65:95.81:136.84:1.00:1.00:1.00:60:38.4:0:0:70:81:38:NM_014648.3(DZIP3) c.=,NM_014648.3(DZIP3) c.=:1,1:0.997309,0.997309 3 108403189 . G . . NT END=108405291;NT GT ./. 3 108405432 . G . . NT END=108406822;NT GT ./. 3 108406944 . G . . NT END=108407439;NT GT ./. 3 108407584 . G . . NT END=108407669;NT GT ./. 3 108407772 . G . . NT END=108409633;NT GT ./. 3 108409745 . T . . NT END=108474624;NT GT ./. 3 108474753 . C . . NT END=108475354;NT GT ./. 3 108475436 . C . . NT END=108475905;NT GT ./. 3 108475808 rs1107337 G A 93 nt VT=SNV;PN=G;NN=T;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.8125,A/0.1875;Gene=RETNLB/NM_032579.2/1;CC=c.127+98C>T;VC=Intron;DM=RETNLB/Resistin GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:70:A:27:24:0:0:27:806:93.39:79.55:13.85:1.00:1.00:1.00:60:41.4:0:0:63:88:28:NM_032579.2(RETNLB) c.127+98C>T,NM_032579.2(RETNLB) c.127+98C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 3 108476033 . C . . NT END=108541774;NT GT ./. 3 108508194 rs559384418 A ATGTG 10 sb,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7454,G/0.2546;DB;DBA=NA;PAF=NA;NP=96;PC=0.051;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:27:A,ATGTG:4:4:4:0:1,3:33,129:0.00,9.97:0.00,1.38:0.00,8.59:0.00,0.78:0.00,0.97:0.00,0.97:60,60:36.0,64.3:0,1:0,0:129,42:22,92:0,12:-,chr3 g.108508194_108508195insTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 108508202 rs59576680 T G 24 nt VT=SNV;PN=T;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1729,G/0.8271;DB;DBA=NA;PAF=NA;PC=0.005 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:G:6:4:0:0:6:207:23.56:11.63:11.93:1.00:1.00:1.00:60:43.2:0:0:85:58:44:chr3 g.108508201T>G (intergenic),chr3 g.108508201T>G (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 108541782 . G . . NT END=108549516;NT GT ./. 3 108541931 rs5851618 CAT C 30 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CAT/0.512,C/0.488;NP=1756;Gene=TRAT1/NM_016388.2/1;CC=c.7+151_7+152delAT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:16:C:9:0:0:9:9:253:29.56:0.00:29.56:1.00:0.00:1.00:60:28.1:0:0:83:66:22:NM_016388.2(TRAT1) c.7+151_7+152delAT,NM_016388.2(TRAT1) c.7+151_7+152delAT:0.49,0.49:NOT_FOUND,NOT_FOUND 3 108541994 rs2121760 C T 22 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.01238,T/0.9876;NP=1382;Gene=TRAT1/NM_016388.2/1;CC=c.7+213C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:0:0:0:6:187:21.55:0.00:21.55:1.00:0.00:1.00:60:42.2:0:0:110:40:24:NM_016388.2(TRAT1) c.7+213C>T,NM_016388.2(TRAT1) c.7+213C>T:0.99,0.99:NOT_FOUND,NOT_FOUND 3 108549628 . G . . NT END=108557780;NT GT ./. 3 108557815 . G . . NT END=108565914;NT GT ./. 3 108557820 rs7651205 T C 130 nt VT=SNV;PN=G;NN=T;SST=Single;DP=34;DB;DBA=NA;PAF=T/0.5094,C/0.4906;PC=0.965;Gene=TRAT1/NM_016388.2/1;CC=c.152+6T>C;VC=Intron;DM=TRAT1/SIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:C:34:21:0:0:34:1140:130.18:53.74:76.44:1.00:1.00:1.00:60:36.7:0:0:95:49:21:NM_016388.2(TRAT1) c.152+6T>C,NM_016388.2(TRAT1) c.152+6T>C:0.51,0.51:0.380363,0.380363 3 108565815 rs2593831 T C 59 nt VT=SNV;PN=A;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.08127,C/0.9187;Gene=TRAT1/NM_016388.2/1;CC=c.153-100T>C;VC=Intron;DM=TRAT1/SIT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:C:15:15:0:0:15:514:58.55:54.68:3.88:1.00:1.00:1.00:60:35.5:0:0:76:74:38:NM_016388.2(TRAT1) c.153-100T>C,NM_016388.2(TRAT1) c.153-100T>C:0.94,0.94:NOT_FOUND,NOT_FOUND 3 108565977 . G . . NT END=108568012;NT GT ./. 3 108568102 . G . . NT END=108572466;NT GT ./. 3 108572725 . C . . NT END=108626868;NT GT ./. 3 108627057 . C . . NT END=108634933;NT GT ./. 3 108627234 rs2399253 G T 19 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.6843,T/0.3157;Gene=GUCA1C/NM_005459.3/1;CC=c.443-178C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:T:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:130.2:0:0:109:42:19:NM_005459.3(GUCA1C) c.443-178C>A,NM_005459.3(GUCA1C) c.443-178C>A:0.32,0.32:NOT_FOUND,NOT_FOUND 3 108635062 . C . . NT END=108639282;NT GT ./. 3 108639119 rs2715688 A G 16 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.745,G/0.255;Gene=GUCA1C/NM_005459.3/1;CC=c.354+164T>C;VC=Intron;DM=GUCA1C/EF-hand_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:57:A,G:8:8:0:0:2,6:64,148:0.00,15.56:0.00,15.56:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:5.5,26.8:0,0:0,0:39,70:111,79:34,22:-,NM_005459.3(GUCA1C) c.354+164T>C:-,0.26:-,NOT_FOUND 3 108639270 rs6791441 C T 56 nt VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.6803,T/0.3197;Gene=GUCA1C/NM_005459.3/1;CC=c.354+13G>A;VC=Intron;DM=GUCA1C/EF-hand_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:44:38:0:0:26,18:888,602:0.00,55.86:0.00,40.41:0.00,15.45:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.7,52.6:0,0:0,0:68,36:73,96:28,17:-,NM_005459.3(GUCA1C) c.354+13G>A:-,0.32:-,0.356176 3 108639384 rs6804162 T C 61 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=T/0.6629,C/0.3371;PC=0.009;Gene=GUCA1C/NM_005459.3/1;CC=c.253A>G;ProtCh=p.M85V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:40:24:0:0:21,19:626,634:60.53,0.00:34.76,0.00:25.77,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:66.0,33.9:0,0:0,0:81,67:61,84:29,32:NM_005459.3(GUCA1C) c.253A>G (p.Met85Val),-:0.34,-:0.377327,- 3 108639423 rs2715687 C T 136 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.3784,T/0.6216;PC=1.000;Gene=GUCA1C/NM_005459.3/1;CC=c.214G>A;ProtCh=p.V72I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:103:T:38:20:0:0:38:1176:135.62:55.15:80.47:1.00:1.00:1.00:60:49.6:0:0:94:55:23:NM_005459.3(GUCA1C) c.214G>A (p.Val72Ile),NM_005459.3(GUCA1C) c.214G>A (p.Val72Ile):0.62,0.62:0.704185,0.704185 3 108639433 . C . . NT END=108672405;NT GT ./. 3 108672335 . G GA 7 rn VT=INS;SST=Single;DP=25;NP=2;Gene=GUCA1C/NM_005459.3/1;CC=c.204+70dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:G,GA,D:24:24:3:2:20,3,1:597,99,66:0.00,7.46,2.13:0.00,7.55,2.15:0.00,-0.08,-0.03:0.00,0.46,0.00:0.00,0.89,0.00:0.00,0.36,0.00:60,60,60:18.8,0.0,49.0:0,0,1:0,0,0:73,19,99:77,130,51:41,9,4:-,NM_005459.3(GUCA1C) c.204+70_204+71insT:-,NOT_FOUND:-,NOT_FOUND 3 108672610 . C . . NT END=108677811;NT GT ./. 3 108677821 rs2197737 C A 67 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=40;DB;DBA=NA;PAF=C/0.6945,A/0.3055,T/.;PC=0.011;Gene=MORC1/NM_014429.3/1;CC=c.2946G>T;ProtCh=p.S982=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:40:34:0:0:20,20:696,617:67.14,0.00:45.92,0.00:21.22,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.4,3.0:0,0:0,0:44,69:92,67:19,48:NM_014429.3(MORC1) c.2946G>T (p.(=)),-:0.29,-:0.366739,- 3 108677910 rs78212601 C T 68 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.992,T/0.007987;PC=1.000;Gene=MORC1/NM_014429.3/1;CC=c.2857G>A;ProtCh=p.E953K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:23:0:0:17,21:563,695:0.00,68.19:0.00,27.62:0.00,40.57:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.9,61.2:0,0:0,0:90,92:55,59:40,32:-,NM_014429.3(MORC1) c.2857G>A (p.Glu953Lys):-,0.01:-,0.016072 3 108677968 . C . . NT END=108682260;NT GT ./. 3 108678002 rs2197738 G A 27 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.6943,A/0.3057;Gene=MORC1/NM_014429.3/1;CC=c.2800-35C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:8:0:0:9,12:290,417:27.06,0.00:4.61,0.00:22.46,0.00:1.00,0.00:0.98,0.00:1.00,0.00:60,60:55.0,3.8:0,0:0,0:104,91:47,59:44,13:NM_014429.3(MORC1) c.2800-35C>T,-:0.29,-:0.366,- 3 108682218 rs2715755 A G 42 nt VT=SNV;PN=C;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=A/0.6869,G/0.3131;Gene=MORC1/NM_014429.3/1;CC=c.2799+43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:40:38:0:0:25,15:819,464:0.00,42.06:0.00,37.71:0.00,4.36:0.00,1.00:0.00,1.00:0.00,0.98:60,60:9.5,32.4:0,0:0,0:77,30:74,121:43,30:-,NM_014429.3(MORC1) c.2799+43T>C:-,0.3:-,0.381846 3 108682456 . C . . NT END=108688515;NT GT ./. 3 108688570 . C . . NT END=108690176;NT GT ./. 3 108690221 rs2593943 G A 68 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6629,A/0.3371;PC=0.745;Gene=MORC1/NM_014429.3/1;CC=c.2506C>T;ProtCh=p.H836Y;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:A:19:13:0:0:19:591:68.14:29.79:38.35:1.00:1.00:1.00:60:34.8:0:0:92:40:28:NM_014429.3(MORC1) c.2506C>T (p.His836Tyr),NM_014429.3(MORC1) c.2506C>T (p.His836Tyr):0.33,0.33:0.431493,0.431493 3 108690250 . C . . NT END=108698361;NT GT ./. 3 108698224 rs62272098 T C 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.8614,C/0.1386;Gene=MORC1/NM_014429.3/1;CC=c.2477+138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:152:C,T:13:13:0:0:5,8:154,252:14.02,0.00:14.02,0.00:0.00,0.00:0.91,0.00:0.91,0.00:0.00,0.00:60,60:38.6,1.4:0,0:0,0:29,61:122,89:19,43:NM_014429.3(MORC1) c.2477+138A>G,-:0.14,-:NOT_FOUND,- 3 108698515 . C . . NT END=108703562;NT GT ./. 3 108698627 rs2953338 G A 88 nt VT=SNV;PN=T;NN=C;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.3686,A/0.6314;Gene=MORC1/NM_014429.3/1;CC=c.2325-113C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:64:A:25:3:0:0:25:760:87.87:9.69:78.18:1.00:1.00:1.00:60:40.4:0:0:114:37:14:NM_014429.3(MORC1) c.2325-113C>T,NM_014429.3(MORC1) c.2325-113C>T:0.63,0.63:NOT_FOUND,NOT_FOUND 3 108703391 rs386397567 T TGG 17 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.6434,TGG/0.3566,TGGG/.;DB;DBA=NA;PAF=T/0.6434,TGG/0.3566;DB;DBA=NA;PAF=T/0.6434,TGG/0.3566;NP=452;Gene=MORC1/NM_014429.3/1;CC=c.2324+170_2324+171dupCC;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:T,TGG:6:6:5:0:1,5:9,160:0.00,17.30:0.00,17.30:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:182.0,49.0:1,0:0,0:109,11:42,140:0,5:NM_014429.3(MORC1) c.2324+171_2324+172insCC,NM_014429.3(MORC1) c.2324+171_2324+172insCC:0.34,0.34:NOT_FOUND,NOT_FOUND 3 108703422 rs1868195 A G 25 nt VT=SNV;PN=C;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.05451,G/0.9455;Gene=MORC1/NM_014429.3/1;CC=c.2324+141T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:8:0:0:8:210:24.71:24.71:0.00:1.00:1.00:0.00:70:77.4:0:0:40:110:10:NM_014429.3(MORC1) c.2324+141T>C,NM_014429.3(MORC1) c.2324+141T>C:0.96,0.96:NOT_FOUND,NOT_FOUND 3 108703518 rs2593958 G T 99 nt VT=SNV;PN=G;NN=A;SST=Single;DP=27;DB;DBA=NA;PAF=G/0.643,T/0.357;PC=0.061;Gene=MORC1/NM_014429.3/1;CC=c.2324+45C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:71:T:27:25:0:0:27:859:98.77:66.86:31.90:1.00:1.00:1.00:70:69.8:0:0:36:106:27:NM_014429.3(MORC1) c.2324+45C>A,NM_014429.3(MORC1) c.2324+45C>A:0.35,0.35:0.453846,0.453846 3 108703548 rs2593959 C T 111 nt VT=SNV;PN=A;NN=T;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.6428,T/0.3572;PC=0.911;Gene=MORC1/NM_014429.3/1;CC=c.2324+15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:79:T:30:24:0:0:30:966:110.84:62.78:48.06:1.00:1.00:1.00:60:63.2:0:0:57:88:24:NM_014429.3(MORC1) c.2324+15G>A,NM_014429.3(MORC1) c.2324+15G>A:0.35,0.35:0.454776,0.454776 3 108703630 . C . . NT END=108705726;NT GT ./. 3 108703702 rs2593960 A T 78 nt VT=SNV;PN=C;NN=G;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.643,T/0.357;PC=0.001;Gene=MORC1/NM_014429.3/1;CC=c.2258-73T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:T:20:5:0:0:20:680:77.54:12.13:65.41:1.00:1.00:1.00:60:36.2:0:0:114:36:14:NM_014429.3(MORC1) c.2258-73T>A,NM_014429.3(MORC1) c.2258-73T>A:0.35,0.35:NOT_FOUND,NOT_FOUND 3 108705715 rs397686297 A AT 186 rn VT=INS;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.397,AT/0.603,ATT/.;DB;DBA=NA;PAF=A/0.397,AT/0.603;NP=2172;Gene=MORC1/NM_014429.3/1;CC=c.2257+11dupA;VC=Intron;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:AT:51:44:51:0:51:1618:186.11:130.61:55.50:1.00:1.00:1.00:60:14.5:0:0:53:97:31:NM_014429.3(MORC1) c.2257+11_2257+12insA,NM_014429.3(MORC1) c.2257+11_2257+12insA:0.61,0.61:NOT_FOUND,NOT_FOUND 3 108705797 . C . . NT END=108719403;NT GT ./. 3 108719470 rs3762698 C G 31 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.7927,G/0.2073;Gene=MORC1/NM_014429.3/1;CC=c.2121G>C;ProtCh=p.L707=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:30:21:0:0:20,10:669,345:0.00,30.98:0.00,13.66:0.00,17.33:0.00,1.00:0.00,1.00:0.00,1.00:60,60:1.6,36.9:0,0:0,0:77,87:67,63:29,32:-,NM_014429.3(MORC1) c.2121G>C (p.(=)):-,0.2:-,0.283528 3 108719506 . C . . NT END=108723663;NT GT ./. 3 108723736 . C . . NT END=108723916;NT GT ./. 3 108724163 . C . . NT END=108725875;NT GT ./. 3 108724202 rs13072610 A G 58 nt VT=SNV;PN=T;NN=G;SST=Single;DP=35;DB;DBA=NA;PAF=A/0.8898,G/0.1102;Gene=MORC1/NM_014429.3/1;CC=c.1768-40T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:35:10:0:0:16,19:534,595:0.00,58.04:0.00,16.39:0.00,41.65:0.00,1.00:0.00,1.00:0.00,1.00:60,60:17.4,41.1:0,0:0,0:95,100:56,47:38,20:-,NM_014429.3(MORC1) c.1768-40T>C:-,0.11:-,0.118192 3 108724279 rs2290058 T A 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=T/0.64,A/0.36;PC=0.009;Gene=MORC1/NM_014429.3/1;CC=c.1768-117A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:553:63.41:0.00:63.41:1.00:0.00:1.00:60:46.8:0:0:99:52:22:NM_014429.3(MORC1) c.1768-117A>T,NM_014429.3(MORC1) c.1768-117A>T:0.35,0.35:NOT_FOUND,NOT_FOUND 3 108725694 rs2044586 C T 26 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.09824,T/0.9018;PC=0.049;Gene=MORC1/NM_014429.3/1;CC=c.1767+182G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:7:0:0:7:223:25.64:25.64:0.00:1.00:1.00:0.00:60:56.1:0:0:41:110:30:NM_014429.3(MORC1) c.1767+182G>A,NM_014429.3(MORC1) c.1767+182G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 3 108725759 rs2044587 C T 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.64,T/0.36;Gene=MORC1/NM_014429.3/1;CC=c.1767+117G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:17:T:9:9:0:0:9:303:34.59:34.59:0.00:1.00:1.00:0.00:60:66.0:0:0:67:83:39:NM_014429.3(MORC1) c.1767+117G>A,NM_014429.3(MORC1) c.1767+117G>A:0.35,0.35:NOT_FOUND,NOT_FOUND 3 108725848 rs5851630 ATTGC A 50 nt VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=ATTGC/0.645,A/0.355;DB;DBA=NA;PAF=ATTGC/0.645,A/0.355;NP=1995;Gene=MORC1/NM_014429.3/1;CC=c.1767+24_1767+27delGCAA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:A:14:11:0:14:14:438:50.47:35.18:15.29:1.00:1.00:1.00:60:46.6:0:0:45:104:16:NM_014429.3(MORC1) c.1767+24_1767+27delGCAA,NM_014429.3(MORC1) c.1767+24_1767+27delGCAA:0.34,0.34:0.429497,0.429497 3 108725862 rs2044589 T C 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=T/0.645,C/0.355;Gene=MORC1/NM_014429.3/1;CC=c.1767+14A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:17:0:0:21:683:78.29:52.53:25.77:1.00:1.00:1.00:60:50.1:0:0:49:102:37:NM_014429.3(MORC1) c.1767+14A>G,NM_014429.3(MORC1) c.1767+14A>G:0.35,0.35:0.439105,0.439105 3 108725939 . C . . NT END=108746597;NT GT ./. 3 108725984 rs2044590 G C 117 nt VT=SNV;PN=A;NN=C;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.64,C/0.36;PC=0.001;Gene=MORC1/NM_014429.3/1;CC=c.1705-46C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:C:33:21:0:0:33:1013:116.87:48.69:68.18:1.00:1.00:1.00:60:40.0:0:0:103:38:19:NM_014429.3(MORC1) c.1705-46C>G,NM_014429.3(MORC1) c.1705-46C>G:0.35,0.35:0.457942,0.457942 3 108746411 . ATT A,ATTTT 13 idl;end,nt VT=INS;SST=Single;DP=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:24:ATTTT,A:5:6:5:1:4,1:153,31:13.40,2.80:13.40,2.80:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:42.5,10.0:1,0:0,0:27,6:124,144:13,0:NM_014429.3(MORC1) c.1704+185_1704+186delAA,NM_014429.3(MORC1) c.1704+185A[4]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 108746737 . C . . NT END=108751566;NT GT ./. 3 108746836 rs17665933 T C 19 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.8588,C/0.1412;Gene=MORC1/NM_014429.3/1;CC=c.1566-100A>G;VC=Intron;DM=MORC1/zf-CW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:165:C,T:11:3:0:0:6,5:190,161:18.57,0.00:1.46,0.00:17.11,0.00:0.98,0.00:0.91,0.00:0.98,0.00:60,60:31.7,18.6:0,0:0,0:70,131:81,20:11,17:NM_014429.3(MORC1) c.1566-100A>G,-:0.14,-:NOT_FOUND,- 3 108751399 rs2305236 C T 10 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=NA;Gene=MORC1/NM_014429.3/1;CC=c.1565+168G>A;VC=Intron;DM=MORC1/zf-CW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,T:5:5:0:0:2,3:69,101:0.00,10.07:0.00,10.07:0.00,0.00:0.00,0.78:0.00,0.78:0.00,0.00:60,60:34.5,68.0:0,0:0,0:34,57:116,94:29,6:-,NM_014429.3(MORC1) c.1565+168G>A:-,0.11:-,NOT_FOUND 3 108751405 rs2305237 T C 20 nt VT=SNV;PN=A;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.64,C/0.36;Gene=MORC1/NM_014429.3/1;CC=c.1565+162A>G;VC=Intron;DM=MORC1/zf-CW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:172:19.58:19.58:0.00:1.00:1.00:0.00:60:54.6:0:0:63:88:7:NM_014429.3(MORC1) c.1565+162A>G,NM_014429.3(MORC1) c.1565+162A>G:0.35,0.35:NOT_FOUND,NOT_FOUND 3 108751673 . C . . NT END=108754186;NT GT ./. 3 108751867 rs77491837 GTTA G 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GTTA/0.6452,G/0.3548;DB;DBA=NA;PAF=GTTA/0.6452,G/0.3548;DB;DBA=NA;PAF=GTTA/0.6452,G/0.3548;NP=165;PC=0.001;Gene=MORC1/NM_014429.3/1;CC=c.1460-198_1460-196delTAA;VC=Intron;DM=MORC1/zf-CW;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:4:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:0.0:0:0:64:86:7:NM_014429.3(MORC1) c.1460-198_1460-196delTAA,NM_014429.3(MORC1) c.1460-198_1460-196delTAA:0.35,0.35:NOT_FOUND,NOT_FOUND 3 108753897 rs6804948 G A 17 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7929,A/0.2071;Gene=MORC1/NM_014429.3/1;CC=c.1459+290C>T;VC=Intron;DM=MORC1/zf-CW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:150:17.38:17.38:0.00:1.00:1.00:0.00:60:30.0:0:0:45:105:22:NM_014429.3(MORC1) c.1459+290C>T,NM_014429.3(MORC1) c.1459+290C>T:0.2,0.2:NOT_FOUND,NOT_FOUND 3 108754059 rs4855575 C T 44 nt VT=SNV;PN=C;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.09824,T/0.9018;Gene=MORC1/NM_014429.3/1;CC=c.1459+128G>A;VC=Intron;DM=MORC1/zf-CW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:T:12:11:0:0:12:386:44.32:40.84:3.48:1.00:1.00:1.00:60:57.0:0:0:10:140:6:NM_014429.3(MORC1) c.1459+128G>A,NM_014429.3(MORC1) c.1459+128G>A:0.91,0.91:NOT_FOUND,NOT_FOUND 3 108754146 rs9821261 G A 85 nt VT=SNV;PN=A;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.6404,A/0.3596;Gene=MORC1/NM_014429.3/1;CC=c.1459+41C>T;VC=Intron;DM=MORC1/zf-CW GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:A:24:19:0:0:24:741:85.49:62.22:23.27:1.00:1.00:1.00:60:76.3:0:0:60:76:34:NM_014429.3(MORC1) c.1459+41C>T,NM_014429.3(MORC1) c.1459+41C>T:0.35,0.35:0.458321,0.458321 3 108754214 rs3762697 T C 43 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.852,C/0.148,G/.;PC=0.984;Gene=MORC1/NM_014429.3/1;CC=c.1432A>G;ProtCh=p.M478V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:31:26:0:0:14,17:460,541:43.42,0.00:36.20,0.00:7.21,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:105.4,71.7:0,0:0,0:51,72:99,78:25,22:NM_014429.3(MORC1) c.1432A>G (p.Met478Val),-:0.14,-:0.168768,- 3 108754238 rs4855576 A T 119 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.1118,T/0.8882;Gene=MORC1/NM_014429.3/1;CC=c.1408T>A;ProtCh=p.F470I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:T:33:27:0:0:33:1031:118.72:81.30:37.41:1.00:1.00:1.00:60:87.6:0:0:80:71:26:NM_014429.3(MORC1) c.1408T>A (p.Phe470Ile),NM_014429.3(MORC1) c.1408T>A (p.Phe470Ile):0.9,0.9:0.884899,0.884899 3 108754260 rs3762696 A G 138 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=A/0.6398,C/.,G/0.3602;Gene=MORC1/NM_014429.3/1;CC=c.1386T>C;ProtCh=p.D462=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:115:G:43:31:0:0:43:1179:137.84:79.31:58.53:1.00:1.00:1.00:60:82.9:0:0:49:92:33:NM_014429.3(MORC1) c.1386T>C (p.(=)),NM_014429.3(MORC1) c.1386T>C (p.(=)):0.35,0.35:0.458327,0.458327 3 108754316 . C . . NT END=108767951;NT GT ./. 3 108754320 rs397816638 T TA 85 idl,rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.8624,A/0.1376;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=173;NP=2;NP=473;Gene=MORC1/NM_014429.3/1;CC=c.1331-6dupT;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:133:A,T,TA,D:35:29:39:1:1,6,27,1:34,188,1131,27:2.15,0.00,85.03,1.46:1.06,0.00,41.69,0.71:1.09,0.00,43.34,0.74:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,70,60:56.0,90.2,90.9,35.0:1,0,12,0:0,0,0,0:33,138,73,47:114,10,75,78:0,4,27,0:-,NM_014429.3(MORC1) c.1331-6_1331-5insT:-,NOT_FOUND:-,NOT_FOUND 3 108754374 rs3762695 T C 57 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.852,A/.,C/0.148;PC=0.010;Gene=MORC1/NM_014429.3/1;CC=c.1331-59A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:36:18:0:0:1,18,17:10,589,520:0.03,56.95,0.00:0.18,16.78,0.00:-0.15,40.17,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,70:52.0,60.5,38.4:0,0,0:0,0,0:106,103,87:44,32,62:0,31,29:NM_014429.3(MORC1) c.1331-59A>G,-:0.14,-:NOT_FOUND,- 3 108754467 rs9841629 T C 14 nt VT=SNV;PN=T;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.7929,C/0.2071;PC=0.766;Gene=MORC1/NM_014429.3/1;CC=c.1331-152A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:15:0:0:0:6,9:158,310:14.22,0.00:0.00,0.00:14.22,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:40.8,18.4:0,0:0,0:117,106:33,44:23,30:NM_014429.3(MORC1) c.1331-152A>G,-:0.2,-:NOT_FOUND,- 3 108767766 rs73204312 T C 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.852,C/0.148;PC=0.002;Gene=MORC1/NM_014429.3/1;CC=c.1330+5809A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:66:C,T:5:5:0:0:3,2:103,68:10.27,0.00:10.27,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:34.3,13.0:0,0:0,0:86,84:65,66:1,7:NM_014429.3(MORC1) c.1330+5809A>G,-:0.15,-:NOT_FOUND,- 3 108768042 . C . . NT END=108773574;NT GT ./. 3 108773730 . C . . NT END=108776189;NT GT ./. 3 108773772 rs7653625 A G 52 nt VT=SNV;PN=A;NN=A;SST=Single;DP=48;DB;DBA=NA;PAF=A/0.8508,G/0.1492;PC=0.428;Gene=MORC1/NM_014429.3/1;CC=c.1176-43T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:48:23:0:0:30,18:944,576:0.00,52.40:0.00,19.27:0.00,33.14:0.00,1.00:0.00,1.00:0.00,1.00:70,60:5.6,37.3:0,0:0,0:97,109:47,41:33,23:-,NM_014429.3(MORC1) c.1176-43T>C:-,0.15:-,0.217808 3 108773809 rs376604472 A AT 7 rn VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=NA;NP=1;Gene=MORC1/NM_014429.3/1;CC=c.1176-81dupA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:A,AT:33:13:3:0:30,3:928,98:0.00,6.87:0.00,2.33:0.00,4.54:0.00,0.41:0.00,0.62:0.00,0.85:60,70:20.2,12.0:0,0:0,0:107,122:36,29:18,17:-,NM_014429.3(MORC1) c.1176-81_1176-80insA:-,NOT_FOUND:-,NOT_FOUND 3 108776334 . C . . NT END=108778652;NT GT ./. 3 108776343 rs1031252 C T 146 nt VT=SNV;PN=A;NN=A;SST=Single;DP=39;DB;DBA=NA;PAF=C/0.1116,T/0.8884;PC=0.001;Gene=MORC1/NM_014429.3/1;CC=c.1032-10G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:107:T:39:16:0:0:39:1274:146.00:40.01:105.99:1.00:1.00:1.00:60:42.6:0:0:101:50:30:NM_014429.3(MORC1) c.1032-10G>A,NM_014429.3(MORC1) c.1032-10G>A:0.9,0.9:0.884976,0.884976 3 108776439 rs2290061 T C 25 nt VT=SNV;PN=A;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.8536,C/0.1464;PC=0.006;Gene=MORC1/NM_014429.3/1;CC=c.1032-106A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:1:0:0:8,10:266,294:25.06,0.00:-0.13,0.00:25.19,0.00:0.99,0.00:0.63,0.00:0.99,0.00:70,60:65.2,29.8:0,0:0,0:99,117:51,33:27,20:NM_014429.3(MORC1) c.1032-106A>G,-:0.14,-:NOT_FOUND,- 3 108778718 . C . . NT END=108780834;NT GT ./. 3 108780831 rs7653651 G A 44 nt VT=SNV;PN=C;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.8518,A/0.1482;Gene=MORC1/NM_014429.3/1;CC=c.966+4C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:33:29:0:0:14,19:472,577:44.12,0.00:33.11,0.00:11.01,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,2.5:0,0:0,0:38,35:102,116:17,26:NM_014429.3(MORC1) c.966+4C>T,-:0.15,-:0.220821,- 3 108780906 . C . . NT END=108781998;NT GT ./. 3 108781952 rs13060344 G T 18 nt VT=SNV;PN=T;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8872,C/.,T/0.1128;Gene=MORC1/NM_014429.3/1;CC=c.895+47C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:192:G,T:16:14:0:0:10,6:323,199:0.00,18.17:0.00,16.85:0.00,1.32:0.00,0.95:0.00,1.00:0.00,0.78:60,60:0.0,33.2:0,0:0,0:39,56:111,94:27,14:-,NM_014429.3(MORC1) c.895+47C>A:-,0.11:-,0.120424 3 108782079 . C . . NT END=108788478;NT GT ./. 3 108788605 . C . . NT END=108812282;NT GT ./. 3 108788701 rs397786542 C CT 27 nt VT=INS;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.887,CT/0.113;DB;DBA=NA;PAF=C/0.887,CT/0.113;NP=590;Gene=MORC1/NM_014429.3/1;CC=c.690-98dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CT:21:7:9:0:12,9:410,290:0.00,27.06:0.00,5.89:0.00,21.18:0.00,1.00:0.00,0.69:0.00,1.00:60,60:5.3,4.3:0,0:0,0:123,99:27,52:12,19:-,NM_014429.3(MORC1) c.690-98_690-97insA:-,0.12:-,NOT_FOUND 3 108812154 rs9821382 A G 7 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.7426,G/0.2574;Gene=MORC1/NM_014429.3/1;CC=c.689+129T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:5:5:0:0:3,2:94,71:0.00,6.59:0.00,6.59:0.00,0.00:0.00,0.46:0.00,0.46:0.00,0.00:60,60:0.0,35.5:0,0:0,0:29,106:121,44:28,36:-,NM_014429.3(MORC1) c.689+129T>C:-,0.24:-,NOT_FOUND 3 108812389 . C . . NT END=108813755;NT GT ./. 3 108813916 . C . . NT END=108818204;NT GT ./. 3 108818314 . C . . NT END=108819263;NT GT ./. 3 108819355 . C . . NT END=108822695;NT GT ./. 3 108819608 rs9831173 A C 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.8522,C/0.1478;PC=0.002;Gene=MORC1/NM_014429.3/1;CC=c.224-254T>G;VC=Intron;DM=MORC1/HATPase_c_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:90:A,C:7:0:0:0:3,4:89,131:0.00,12.93:0.00,0.00:0.00,12.93:0.00,0.90:0.00,0.00:0.00,0.90:60,60:15.0,35.2:0,0:0,0:131,64:20,86:4,39:-,NM_014429.3(MORC1) c.224-254T>G:-,0.15:-,NOT_FOUND 3 108822765 . C . . NT END=108829595;NT GT ./. 3 108829631 . C . . NT END=108833230;NT GT ./. 3 108829765 rs6437822 C T 11 nt VT=SNV;PN=C;NN=G;SST=Single;DP=11;DB;DBA=NA;PAF=C/0.2185,T/0.7815;PC=0.030;Gene=MORC1/NM_014429.3/1;CC=c.120-135G>A;VC=Intron;DM=MORC1/HATPase_c_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:124:C,T:11:0:0:0:6,5:124,120:0.00,11.06:0.00,0.00:0.00,11.06:0.00,0.93:0.00,0.00:0.00,0.93:60,60:16.8,73.6:0,0:0,0:120,120:29,31:17,14:-,NM_014429.3(MORC1) c.120-135G>A:-,0.79:-,NOT_FOUND 3 108833285 . C . . NT END=108836841;NT GT ./. 3 108836950 . T . . NT END=109019239;NT GT ./. 3 109019283 . C . . NT END=109023321;NT GT ./. 3 109019435 rs9865540 G A 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.3137,A/0.6863,T/.;PC=0.001;Gene=DPPA2/NM_138815.3/1;CC=c.855-153C>T;VC=Intron;DM=DPPA2/DCR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:41:A:17:0:0:0:17:547:62.81:0.00:62.81:1.00:0.00:1.00:60:41.6:0:0:74:77:41:NM_138815.3(DPPA2) c.855-153C>T,NM_138815.3(DPPA2) c.855-153C>T:0.69,0.69:NOT_FOUND,NOT_FOUND 3 109022978 rs142459613 G A 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9836,A/0.01637;PC=0.002;Gene=DPPA2/NM_138815.3/1;CC=c.854+344C>T;VC=Intron;DM=DPPA2/DCR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:61:A,G:4:4:0:0:2,2:66,63:6.35,0.00:6.35,0.00:0.00,0.00:0.51,0.00:0.51,0.00:0.00,0.00:60,60:33.0,23.5:0,0:0,0:23,13:127,136:22,13:NM_138815.3(DPPA2) c.854+344C>T,-:0.02,-:NOT_FOUND,- 3 109023518 . C . . NT END=109026878;NT GT ./. 3 109027141 . C . . NT END=109027872;NT GT ./. 3 109027157 rs7611135 C T 392 nt VT=SNV;PN=A;NN=G;SST=Single;DP=105;DB;DBA=NA;PAF=C/0.2344,T/0.7656;Gene=DPPA2/NM_138815.3/1;CC=c.397-17G>A;VC=Intron;DM=DPPA2/Dppa2_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:105:39:0:0:105:3421:392.02:104.50:287.52:1.00:1.00:1.00:60:42.4:0:0:83:63:27:NM_138815.3(DPPA2) c.397-17G>A,NM_138815.3(DPPA2) c.397-17G>A:0.76,0.76:0.704521,0.704521 3 109027215 rs373075961 C CT 14 idl,rn VT=INS;SST=Single;DP=71;DB;DBA=NA;PAF=NA;NP=2;PC=0.001;Gene=DPPA2/NM_138815.3/1;CC=c.397-76_397-75insA;VC=Intron;DM=DPPA2/Dppa2_A;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,C,G,CT,D:70:17:7:3:1,59,1,6,3:9,1899,12,228,98:-0.25,0.00,-0.15,13.97,6.01:-0.07,0.00,0.14,-0.42,-0.21:-0.19,0.00,-0.29,14.39,6.21:0.00,0.00,0.00,0.79,0.00:0.00,0.00,0.00,0.66,0.00:0.00,0.00,0.00,0.98,0.00:60,60,60,60,60:139.0,36.8,118.0,57.0,35.0:0,1,0,1,0:0,0,0,0,0:126,102,139,101,108:24,49,12,50,41:0,34,0,18,0:-,NM_138815.3(DPPA2) c.397-76_397-75insA:-,NOT_FOUND:-,NOT_FOUND 3 109027820 rs7611871 G A 221 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.3431,A/0.6569;Gene=DPPA2/NM_138815.3/1;CC=c.396+53C>T;VC=Intron;DM=DPPA2/Dppa2_A GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:A:60:54:0:0:60:1921:220.64:173.68:46.96:1.00:1.00:1.00:60:36.8:0:0:53:94:20:NM_138815.3(DPPA2) c.396+53C>T,NM_138815.3(DPPA2) c.396+53C>T:0.66,0.66:0.585414,0.585414 3 109027927 . C . . NT END=109028016;NT GT ./. 3 109028178 . C . . NT END=109031391;NT GT ./. 3 109028317 rs2930079 G A 11 nt VT=SNV;PN=C;NN=A;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.9209,A/0.07907;PC=0.014;Gene=DPPA2/NM_138815.3/1;CC=c.182-140C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:115:A,G:11:0:0:0:4,7:118,237:10.58,0.00:0.00,0.00:10.58,0.00:0.82,0.00:0.00,0.00:0.82,0.00:60,60:33.2,1.4:0,0:0,0:76,98:75,53:15,23:NM_138815.3(DPPA2) c.182-140C>T,-:0.07,-:NOT_FOUND,- 3 109031540 . C . . NT END=109033356;NT GT ./. 3 109033390 . T . . NT END=109046834;NT GT ./. 3 109046872 . C . . NT END=109047736;NT GT ./. 3 109047936 . C . . NT END=109049370;NT GT ./. 3 109049104 rs2699988 G A 36 nt VT=SNV;PN=C;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.243,A/0.757;PC=0.001;Gene=DPPA4/NM_018189.3/1;CC=c.679+267C>T;VC=Intron;DM=DPPA4/DCR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:A:10:10:0:0:10:310:35.72:35.72:0.00:1.00:1.00:0.00:60:91.4:0:0:49:100:22:NM_018189.3(DPPA4) c.679+267C>T,NM_018189.3(DPPA4) c.679+267C>T:0.72,0.72:NOT_FOUND,NOT_FOUND 3 109049105 rs2699989 C T 37 nt VT=SNV;PN=G;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.2244,T/0.7756;Gene=DPPA4/NM_018189.3/1;CC=c.679+266G>A;VC=Intron;DM=DPPA4/DCR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:325:37.27:37.27:0.00:1.00:1.00:0.00:60:91.4:0:0:50:99:22:NM_018189.3(DPPA4) c.679+266G>A,NM_018189.3(DPPA4) c.679+266G>A:0.73,0.73:NOT_FOUND,NOT_FOUND 3 109049160 rs568884878 AAAAAAAAAAAAAAAAAAAG A 20 nt VT=DEL;SST=Single;DP=10;DB;DBA=NA;PAF=NA;PC=0.002;Gene=DPPA4/NM_018189.3/1;CC=c.679+192_679+210delCTTTTTTTTTTTTTTTTTT;VC=Intron;DM=DPPA4/DCR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:77:AAAAAAAAAAAAAAAAAAAG,G,A:10:10:0:9:3,1,6:101,31,199:0.00,2.44,20.24:0.00,2.44,20.24:0.00,0.00,0.00:0.00,0.00,0.99:0.00,0.00,0.99:0.00,0.00,0.00:60,60,60:54.0,151.0,37.2:3,0,0:0,0,0:82,143,57:69,7,91:32,0,10:-,NM_018189.3(DPPA4) c.679+192_679+210delCTTTTTTTTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 109049161 . AAAAAAAAAAAAAAAAAAG A 7 idl,nt VT=DEL;SST=Single;DP=4;PC=0.002;Gene=DPPA4/NM_018189.3/1;CC=c.679+192_679+209delCTTTTTTTTTTTTTTTTT;VC=Intron;DM=DPPA4/DCR;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:AAAAAAAAAAAAAAAAAAG,G,A:4:4:0:11:1,1,2:34,29,67:0.00,2.65,6.75:0.00,2.65,6.75:0.00,0.00,0.00:0.00,0.00,0.51:0.00,0.00,0.51:0.00,0.00,0.00:60,60,60:69.0,151.0,46.5:1,0,0:0,0,0:115,144,61:34,6,89:0,0,21:-,NM_018189.3(DPPA4) c.679+192_679+209delCTTTTTTTTTTTTTTTTT:-,NOT_FOUND:-,NOT_FOUND 3 109049180 rs6148011 GA G 11 rn VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=9;Gene=DPPA4/NM_018189.3/1;CC=c.679+190delT;VC=Intron;DM=DPPA4/DCR;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:107:GA,G:16:16:0:4:12,4:412,125:0.00,10.50:0.00,10.50:0.00,0.00:0.00,0.75:0.00,0.75:0.00,0.00:60,60:52.8,59.8:12,0:0,0:65,13:85,136:22,7:-,NM_018189.3(DPPA4) c.679+190delT:-,NOT_FOUND:-,NOT_FOUND 3 109049181 rs202065559 A G 31 idl,nt VT=SNV;PN=G;NN=A;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=2;Gene=DPPA4/NM_018189.3/1;CC=c.679+190T>C;VC=Intron;DM=DPPA4/DCR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,G:12:12:0:4:3,9:89,300:0.00,31.37:0.00,31.37:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:83.0,42.8:3,9:0,0:87,59:64,89:13,18:-,NM_018189.3(DPPA4) c.679+190T>C:-,NOT_FOUND:-,NOT_FOUND 3 109049660 . C . . NT END=109050580;NT GT ./. 3 109049720 rs201796791 C CTAAGGGT 130 nt VT=INS;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.224,CTAAGGGT/0.776;DB;DBA=NA;PAF=NA;NP=2;Gene=DPPA4/NM_018189.3/1;CC=c.391-62_391-61insACCCTTA;VC=Intron;DM=DPPA4/Dppa2_A;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:67:C,CTAAGGGT:44:15:38:0:6,38:155,1194:0.00,130.09:0.00,23.28:0.00,106.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:26.5,4.7:0,0:0,0:139,91:6,58:3,21:-,NM_018189.3(DPPA4) c.391-62_391-61insACCCTTA:-,0.74:-,NOT_FOUND 3 109050411 rs368651803 A AAAG 16 nt VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.063;Gene=DPPA4/NM_018189.3/1;CC=c.390+169_390+170insCTT;VC=Intron;DM=DPPA4/Dppa2_A;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:A,AAAG:7:8:6:0:2,5:22,190:0.00,16.25:0.00,16.25:0.00,0.00:0.00,0.97:0.00,0.97:0.00,0.00:60,60:88.0,30.2:0,1:0,0:79,65:71,84:41,34:-,NM_018189.3(DPPA4) c.390+169_390+170insCTT:-,NOT_FOUND:-,NOT_FOUND 3 109050632 . C . . NT END=109050717;NT GT ./. 3 109050879 . C . . NT END=109052716;NT GT ./. 3 109050980 rs1163438 T C 87 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=T/0.1138,C/0.8862;Gene=DPPA4/NM_018189.3/1;CC=c.179-102A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:2:0:0:25:753:87.21:3.98:83.24:1.00:1.00:1.00:60:39.4:0:0:111:40:31:NM_018189.3(DPPA4) c.179-102A>G,NM_018189.3(DPPA4) c.179-102A>G:0.85,0.85:NOT_FOUND,NOT_FOUND 3 109052732 rs3762648 T C 210 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=T/0.516,C/0.484;Gene=DPPA4/NM_018189.3/1;CC=c.163A>G;ProtCh=p.I55V;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C,T:56:43:0:0:55,1:1862,33:210.21,0.00:127.32,0.00:82.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:43.9,10.0:0,0:0,0:50,46:92,105:32,0:NM_018189.3(DPPA4) c.163A>G (p.Ile55Val),NM_018189.3(DPPA4) c.163A>G (p.Ile55Val):0.49,0.49:0.394203,0.394203 3 109052841 . C . . NT END=109056310;NT GT ./. 3 109052934 rs7642495 G A 130 nt VT=SNV;PN=C;NN=C;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.5162,A/0.4838;PC=0.001;Gene=DPPA4/NM_018189.3/1;CC=c.55-94C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:A,C:40:9:0:0:39,1:1123,10:130.29,0.22:23.30,0.00:106.99,0.22:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.6,21.0:0,0:0,0:104,138:46,13:15,0:NM_018189.3(DPPA4) c.55-94C>T,NM_018189.3(DPPA4) c.55-94C>T:0.49,0.49:NOT_FOUND,NOT_FOUND 3 109053031 rs2625594 A T 26 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=1224;Gene=DPPA4/NM_018189.3/1;CC=c.55-191T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:T:7:0:0:0:7:230:26.34:0.00:26.34:1.00:0.00:1.00:60:50.1:0:0:97:54:39:NM_018189.3(DPPA4) c.55-191T>A,NM_018189.3(DPPA4) c.55-191T>A:1,1:NOT_FOUND,NOT_FOUND 3 109056183 rs9836011 A T 68 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.5581,T/0.4419;PC=0.012;Gene=DPPA4/NM_018189.3/1;CC=c.54+128T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:T:19:19:0:0:19:593:68.35:68.35:0.00:1.00:1.00:0.00:60:40.3:0:0:35:115:25:NM_018189.3(DPPA4) c.54+128T>A,NM_018189.3(DPPA4) c.54+128T>A:0.45,0.45:NOT_FOUND,NOT_FOUND 3 109056365 . G . . NT END=109129013;NT GT ./. 3 109128692 rs808802 C T 56 nt VT=SNV;PN=T;NN=T;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.4127,T/0.5873;PC=1.000 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:35:T:15:7:0:0:15:484:55.55:23.55:32.00:1.00:1.00:1.00:60:45.8:0:0:87:62:35:NM_001145553.1(FLJ25363) c.-177-u145C>T,NM_001145553.1(FLJ25363) c.-177-u145C>T:0.6,0.6:NOT_FOUND,NOT_FOUND 3 109129055 . g . . NT END=109136579;NT GT ./. 3 109136590 . c . . NT END=109178729;NT GT ./. 3 109178707 rs769534 C G 73 nt VT=SNV;PN=T;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.3229,G/0.6771;PC=0.002;Gene=LINC01205/NR_109841.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:12:0:0:19:644:73.44:30.03:43.41:1.00:1.00:1.00:60:59.3:0:0:83:61:16:NM_001145553.1(FLJ25363) c.202-23C>G,NM_001145553.1(FLJ25363) c.202-23C>G:0.67,0.67:0.586728,0.586728 3 109178758 rs769533 C T 58 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.002596,T/0.9974;PC=0.003;Gene=LINC01205/NR_109841.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:37:T:16:9:0:0:16:504:57.96:23.06:34.89:1.00:1.00:1.00:60:63.4:0:0:119:29:11:NM_001145553.1(FLJ25363) c.230C>T (p.Thr77Ile),NM_001145553.1(FLJ25363) c.230C>T (p.Thr77Ile):1,1:0.998685,0.998685 3 109178776 . g . . NT END=110790864;NT GT ./. 3 109807022 rs71966118 CGTGT C 11 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=130;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:2:C:3:4:0:4:3:130:10.76:7.10:3.65:0.85:0.85:0.95:60:15.0:1:0:39:109:4:chr3 g.109807023_109807026delGTGT (intergenic),chr3 g.109807023_109807026delGTGT (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 110019782 rs57569088 A CGT 7 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.348,AGT/0.652;DB;DBA=NA;PAF=A/0.348,AGT/0.652;DB;DBA=NA;PAF=A/0.348,AGT/0.652,AGTGTGT/.;NP=1;NP=1;NP=407;RN=15 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,CGT:6:5:3:0:3,3:77,77:0.00,7.33:0.00,4.81:0.00,2.52:0.00,0.73:0.00,0.96:0.00,0.89:60,60:83.3,52.0:0,0:0,0:106,71:44,80:21,0:-,chr3 g.110019782delAinsCGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 110042968 rs397990790 ATG A 15 rn VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=421;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:3:0:4:4:127:14.61:7.30:7.30:1.00:1.00:1.00:60:0.0:0:0:55:95:25:chr3 g.110042969_110042970delTG (intergenic),chr3 g.110042969_110042970delTG (intergenic):NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 110401053 . CT C 12 rn VT=DEL;SST=Single;DP=17;NP=4;PC=0.688;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:CT,I,C:17:17:2:4:11,2,4:313,65,134:0.00,5.00,11.52:0.00,5.00,11.52:0.00,0.00,0.00:0.00,0.00,0.74:0.00,0.00,0.74:0.00,0.00,0.00:60,60,60:41.8,42.0,0.0:0,0,0:0,0,0:51,23,56:100,126,94:36,2,22:-,chr3 g.110401054delT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 110490824 rs9870781 A ATGTGTGTG 14 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=A/0.6777,G/0.3223;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:A,ATGTGTGTG:5:3:5:0:1,4:12,168:0.00,14.25:0.00,5.55:0.00,8.69:0.00,0.93:0.00,0.97:0.00,0.99:60,60:0.0,34.2:0,1:0,0:110,66:30,84:0,27:-,chr3 g.110490824_110490825insTGTGTGTG (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 110771599 rs548172878 GAC G,GACAC 14 idl,nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.010 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:24:GACAC,G:5:4:4:1:4,1:125,31:14.02,2.88:14.02,0.00:0.00,2.88:0.96,0.00:1.00,0.00:0.87,0.00:60,60:13.8,0.0:0,0:0,0:47,23:95,127:16,0:NR_045114.1(PVRL3-AS1) n.379-95_379-94delGT,NR_045114.1(PVRL3-AS1) n.379-95_379-94dupGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 110791113 rs4682228 A G 596 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=168;DB;DBA=NA;PAF=A/0.02656,G/0.9734;PC=0.002;Gene=PVRL3/NM_001243286.1/0;CC=c.160+89A>G;VC=Intron;Gene=PVRL3/NM_015480.2/0;CC=c.160+89A>G;VC=Intron;Gene=PVRL3/NM_001243288.1/1;CC=c.-154A>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:168:115:0:0:1,167:5,5175:0.01,596.44:0.00,313.02:0.01,283.42:0.00,1.00:0.00,1.00:0.00,1.00:60,60:42.0,38.9:0,0:0,0:105,76:44,64:0,40:NM_001243288.1(PVRL3) c.-154A>G,NM_001243288.1(PVRL3) c.-154A>G:0.98,0.98:NOT_FOUND,NOT_FOUND 3 110791358 . G . . NT END=110830876;NT GT ./. 3 110830746 . ATGTG A 21 idl,rn VT=DEL;SST=Single;DP=13;NP=5;PC=0.579;Gene=PVRL3/NM_001243286.1/0;CC=c.161-99_161-96delGTGT;VC=Intron;Gene=PVRL3/NM_015480.2/0;CC=c.161-99_161-96delGTGT;VC=Intron;Gene=PVRL3/NM_001243288.1/1;CC=c.92-99_92-96delGTGT;VC=Intron;DM=PVRL3/V-set;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:ATGTG,A:12:13:0:10:5,7:143,249:0.00,21.39:0.00,21.55:0.00,-0.17:0.00,0.99:0.00,0.99:0.00,0.69:60,70:8.8,21.9:0,1:0,0:139,48:12,101:4,20:-,NM_001243288.1(PVRL3) c.92-130_92-127delTGTG:-,NOT_FOUND:-,NOT_FOUND 3 110831219 . G . . NT END=110837502;NT GT ./. 3 110837800 . G . . NT END=110840967;NT GT ./. 3 110841086 . G . . NT END=110845030;NT GT ./. 3 110845183 . G . . NT END=110852481;NT GT ./. 3 110853775 rs185833400 C T 45 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=48;DB;DBA=NA;PAF=C/0.998,T/0.001997;NP=8;PC=0.005;Gene=PVRL3/NM_001243286.1/0;CC=c.*1236C>T;VC=3UTR;Gene=PVRL3/NM_015480.2/0;CC=c.*713C>T;VC=3UTR;Gene=PVRL3/NM_001243288.1/1;CC=c.1000+8593C>T;VC=Intron;DM=PVRL3/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:48:33:0:0:33,15:1075,507:0.00,44.92:0.00,26.17:0.00,18.75:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.9,36.9:0,0:0,0:75,76:65,59:36,33:-,NM_001243288.1(PVRL3) c.1000+8593C>T:-,0.0037:-,NOT_FOUND 3 110853822 . G GT 9 rn VT=INS;SST=Single;DP=50;NP=30;Gene=PVRL3/NM_001243286.1/0;CC=c.*1294dupT;VC=3UTR;Gene=PVRL3/NM_015480.2/0;CC=c.*771dupT;VC=3UTR;Gene=PVRL3/NM_001243288.1/1;CC=c.1000+8651dupT;VC=Intron;DM=PVRL3/Ig_3;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:13:G,GT:49:30:5:0:45,4:1506,162:0.00,8.90:0.00,1.78:0.00,7.11:0.00,0.55:0.00,0.81:0.00,0.85:60,60:16.9,17.0:0,1:0,0:78,92:69,59:33,40:-,NM_001243288.1(PVRL3) c.1000+8640_1000+8641insT:-,NOT_FOUND:-,NOT_FOUND 3 110853922 rs58619122 CAG C 118 PASS VT=DEL;SST=Single;DP=39;DB;DBA=NA;PAF=CAG/0.9756,C/0.02436;NP=46;PC=0.035;Gene=PVRL3/NM_001243286.1/0;CC=c.*1390_*1391delAG;VC=3UTR;Gene=PVRL3/NM_015480.2/0;CC=c.*867_*868delAG;VC=3UTR;Gene=PVRL3/NM_001243288.1/1;CC=c.1000+8747_1000+8748delAG;VC=Intron;DM=PVRL3/Ig_3;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:45:CAG,C:39:23:0:35:4,35:132,1070:0.00,118.07:0.00,59.23:0.00,58.84:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.8,5.9:0,0:0,0:144,80:5,65:0,36:-,NM_001243288.1(PVRL3) c.1000+8741_1000+8742delAG:-,0.03:-,NOT_FOUND 3 110854074 rs1370 G C 168 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=44;DB;DBA=NA;PAF=G/0.9756,C/0.02436;Gene=PVRL3/NM_001243286.1/0;CC=c.*1535G>C;VC=3UTR;Gene=PVRL3/NM_015480.2/0;CC=c.*1012G>C;VC=3UTR;Gene=PVRL3/NM_001243288.1/1;CC=c.1000+8892G>C;VC=Intron;DM=PVRL3/Ig_3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:122:C:44:24:0:0:44:1474:168.38:76.69:91.69:1.00:1.00:1.00:60:37.9:0:0:99:43:39:NM_001243288.1(PVRL3) c.1000+8892G>C,NM_001243288.1(PVRL3) c.1000+8892G>C:0.03,0.03:NOT_FOUND,NOT_FOUND 3 110854924 rs60276360 CGAT C 81 PASS VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=45;Gene=PVRL3/NM_001243286.1/0;CC=c.*2388_*2390delTGA;VC=3UTR;Gene=PVRL3/NM_015480.2/0;CC=c.*1865_*1867delTGA;VC=3UTR;Gene=PVRL3/NM_001243288.1/1;CC=c.1001-8819_1001-8817delTGA;VC=Intron;DM=PVRL3/Ig_3;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:5:CGAT,C:26:20:0:24:2,24:65,722:0.00,80.56:0.00,52.63:0.00,27.94:0.00,1.00:0.00,1.00:0.00,1.00:60,70:0.0,5.1:0,0:0,0:142,66:3,83:0,40:-,NM_001243288.1(PVRL3) c.1001-8821_1001-8819delGAT:-,0.03:-,NOT_FOUND 3 110856344 rs71756135 G GTGTTAGCCC 59 PASS VT=INS;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.5719,GTGTTAGCCC/0.4281;NP=3;PC=0.029;Gene=PVRL3/NM_001243286.1/0;CC=c.*3806_*3814dupTGTTAGCCC;VC=3UTR;Gene=PVRL3/NM_015480.2/0;CC=c.*3283_*3291dupTGTTAGCCC;VC=3UTR;Gene=PVRL3/NM_001243288.1/1;CC=c.1001-7401_1001-7393dupTGTTAGCCC;VC=Intron;DM=PVRL3/Ig_3;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:154:G,T,GTGTTAGCCC:26:15:18:0:7,1,18:178,11,570:0.00,0.24,59.21:0.00,0.31,23.88:0.00,-0.07,35.33:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:22.0,78.0,5.8:0,0,0:0,0,0:126,129,67:10,9,80:3,0,26:-,NM_001243288.1(PVRL3) c.1001-7402_1001-7401insTGTTAGCCC:-,0.41:-,NOT_FOUND 3 110856408 . T . . NT END=110863745;NT GT ./. 3 110863885 . G . . NT END=110866249;NT GT ./. 3 110866332 . G . . NT END=110911197;NT GT ./. 3 110866437 rs62273799 G A 23 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.00599,A/0.994;NP=125;Gene=PVRL3/NM_001243288.1/1;CC=c.1221+106G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:0:0:0:7:200:23.29:0.00:23.29:1.00:0.00:1.00:60:47.0:0:0:78:73:59:NM_001243288.1(PVRL3) c.1221+106G>A,NM_001243288.1(PVRL3) c.1221+106G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 3 110911261 . G . . NT END=110912046;NT GT ./. 3 110911392 rs73854929 G A 45 nt VT=SNV;PN=G;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=G/0.9742,A/0.02576;PC=0.002;Gene=PVRL3/NM_001243288.1/1;CC=c.1284+132G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:28:A:13:0:0:0:13:386:44.71:0.00:44.71:1.00:0.00:1.00:60:37.8:0:0:104:47:34:NM_001243288.1(PVRL3) c.1284+132G>A,NM_001243288.1(PVRL3) c.1284+132G>A:0.03,0.03:NOT_FOUND,NOT_FOUND 3 110912227 . T . . NT END=111261095;NT GT ./. 3 111197863 rs7650195 C G 15 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.02117,G/0.9788;PC=0.243 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:16:C,G:6:5:0:3:1,5:25,143:0.00,15.49:0.00,10.92:0.00,4.57:0.00,0.99:0.00,1.00:0.00,1.00:56,60:124.0,42.0:0,0:0,0:112,137:-7,13:0,1:-,chr3 g.111197862C>G (intergenic):-,0.92:-,NOT_FOUND 3 111260975 rs2276873 C T 22 nt VT=SNV;PN=C;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.5411,T/0.4589;Gene=CD96/NM_005816.4/0;CC=c.-121C>T;VC=5UTR;Gene=CD96/NM_198196.2/1;CC=c.-121C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:16:0:0:9,7:296,239:0.00,22.48:0.00,20.79:0.00,1.68:0.00,0.98:0.00,0.98:0.00,0.74:60,60:2.8,37.6:0,0:0,0:59,33:90,116:23,12:-,NM_198196.2(CD96) c.-121C>T:-,0.48:-,NOT_FOUND 3 111261157 . G . . NT END=111263892;NT GT ./. 3 111261242 rs58224057 G GCTGCTGAAATTGATCACCA 7 nt VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.5411,GCTGCTGAAATTGATCACCA/0.4589;DB;DBA=NA;PAF=G/0.5411,GCTGCTGAAATTGATCACCA/0.4589;NP=3;Gene=CD96/NM_005816.4/0;CC=c.61+87_61+105dupCTGCTGAAATTGATCACCA;VC=Intron;Gene=CD96/NM_198196.2/1;CC=c.61+87_61+105dupCTGCTGAAATTGATCACCA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:G,GCTGCTGAAATTGATCACCA:22:4:3:0:19,3:636,91:0.00,6.73:0.00,-0.13:0.00,6.86:0.00,0.48:0.00,0.45:0.00,0.48:60,60:2.1,10.7:0,0:0,0:111,37:20,114:22,6:-,NM_198196.2(CD96) c.61+86_61+87insCTGCTGAAATTGATCACCA:-,0.48:-,NOT_FOUND 3 111263682 rs6764960 A G 9 nt VT=SNV;PN=T;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.3353,G/0.6647;Gene=CD96/NM_005816.4/0;CC=c.62-211A>G;VC=Intron;Gene=CD96/NM_198196.2/1;CC=c.62-211A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:A,G:9:9:0:0:6,3:196,103:0.00,9.24:0.00,9.24:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:1.3,47.3:0,0:0,0:84,28:66,123:11,7:-,NM_198196.2(CD96) c.62-211A>G:-,0.66:-,NOT_FOUND 3 111264250 . G . . NT END=111286369;NT GT ./. 3 111264512 rs11916952 T G 11 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3357,G/0.6643;Gene=CD96/NM_005816.4/0;CC=c.418+263T>G;VC=Intron;Gene=CD96/NM_198196.2/1;CC=c.418+263T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:21:A,G,T:5:0:0:0:1,3,1:9,103,32:0.60,10.67,0.00:0.00,0.00,0.00:0.60,10.67,0.00:0.00,0.78,0.00:0.00,0.00,0.00:0.00,0.78,0.00:60,60,60:121.0,39.3,28.0:0,0,0:0,0,0:125,140,113:4,11,38:0,4,0:NM_198196.2(CD96) c.418+263T>G,-:0.66,-:NOT_FOUND,- 3 111286495 . G . . NT END=111296348;NT GT ./. 3 111296397 . G . . NT END=111297873;NT GT ./. 3 111298082 . G . . NT END=111304169;NT GT ./. 3 111298145 rs9831496 A G 8 nt VT=SNV;PN=A;NN=G;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.8608,G/0.1392;Gene=CD96/NM_005816.4/0;CC=c.751+64A>G;VC=Intron;Gene=CD96/NM_198196.2/1;CC=c.799+64A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:78:A,G:14:2:0:0:11,3:376,97:0.00,7.97:0.00,-0.10:0.00,8.08:0.00,0.56:0.00,0.49:0.00,0.56:60,60:0.9,32.3:0,0:0,0:136,92:15,58:10,26:-,NM_198196.2(CD96) c.799+64A>G:-,0.15:-,NOT_FOUND 3 111304226 . G . . NT END=111312391;NT GT ./. 3 111313049 . G . . NT END=111316966;NT GT ./. 3 111317058 . G . . NT END=111319572;NT GT ./. 3 111319762 . G . . NT END=111325546;NT GT ./. 3 111325640 . G . . NT END=111331670;NT GT ./. 3 111331710 . G . . NT END=111342600;NT GT ./. 3 111342670 . G . . NT END=111343179;NT GT ./. 3 111343252 . G . . NT END=111356042;NT GT ./. 3 111356083 rs1533270 G C 95 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.003395,C/0.9966;NP=3468;PC=0.024;Gene=CD96/NM_005816.4/0;CC=c.1362G>C;ProtCh=p.P454=;VC=Silent;Gene=CD96/NM_198196.2/1;CC=c.1410G>C;ProtCh=p.P470=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:C:25:20:0:0:25:829:94.82:53.41:41.41:1.00:1.00:1.00:60:44.6:0:0:67:82:31:NM_198196.2(CD96) c.1410G>C (p.(=)),NM_198196.2(CD96) c.1410G>C (p.(=)):1,1:0.995387,0.995387 3 111356109 . G . . NT END=111356925;NT GT ./. 3 111357016 . G . . NT END=111366389;NT GT ./. 3 111366514 . G . . NT END=111368544;NT GT ./. 3 111368654 . T . . NT END=111394092;NT GT ./. 3 111394256 . G . . NT END=111426772;NT GT ./. 3 111427234 . G . . NT END=111432733;NT GT ./. 3 111427455 rs1877575 G A 18 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.8229,A/0.1771;PC=0.001;Gene=PLCXD2/NM_001185106.1/1;CC=c.624+222G>A;VC=Intron;Gene=PLCXD2/NM_153268.3/0;CC=c.624+222G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:A,G:6:0:0:0:5,1:166,35:17.81,0.00:0.00,0.00:17.81,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:33.2,0.0:0,0:0,0:93,123:58,28:38,0:NM_001185106.1(PLCXD2) c.624+222G>A,-:0.19,-:NOT_FOUND,- 3 111432805 rs17423699 G A 109 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=75;DB;DBA=NA;PAF=G/0.9752,A/0.02476;Gene=PLCXD2/NM_001185106.1/1;CC=c.696G>A;ProtCh=p.A232=;VC=Silent;Gene=PLCXD2/NM_153268.3/0;CC=c.696G>A;ProtCh=p.A232=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:75:57:0:0:36,39:1138,1158:108.54,0.00:67.45,0.00:41.10,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.7,5.5:0,0:0,0:53,57:97,89:30,33:NM_001185106.1(PLCXD2) c.696G>A (p.(=)),-:0.04,-:0.049362,- 3 111432976 . G . . NT END=111451465;NT GT ./. 3 111451383 rs13085147 A C 25 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.9744,C/0.02556;PC=0.017;Gene=PLCXD2/NM_001185106.1/1;CC=c.867-83A>C;VC=Intron;Gene=PLCXD2/NM_153268.3/0;CC=c.866+18408A>C;VC=Intron;Gene=PHLDB2/NM_001134437.1/0;CC=c.-216A>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:19:18:0:0:11,8:363,272:0.00,25.40:0.00,23.96:0.00,1.44:0.00,0.99:0.00,1.00:0.00,0.82:60,60:3.3,36.2:0,0:0,0:33,46:117,104:19,34:-,NM_001185106.1(PLCXD2) c.867-83A>C:-,0.04:-,NOT_FOUND 3 111451551 . G . . NT END=111498699;NT GT ./. 3 111451603 rs3821919 G C 32 nt VT=SNV;PN=A;NN=C;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.2536,C/0.7464;Gene=PLCXD2/NM_001185106.1/1;CC=c.*33+53G>C;VC=Intron;Gene=PLCXD2/NM_153268.3/0;CC=c.866+18628G>C;VC=Intron;Gene=PHLDB2/NM_001134437.1/0;CC=c.-49+53G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:26:4:0:0:1,11,14:28,338,452:1.63,31.57,0.00:-0.02,5.17,0.00:1.64,26.40,0.00:0.00,1.00,0.00:0.00,0.89,0.00:0.00,1.00,0.00:60,60,60:28.0,55.7,8.0:0,0,0:0,0,0:11,68,100:140,83,50:0,29,31:NM_001185106.1(PLCXD2) c.*33+53G>C,-:0.74,-:NOT_FOUND,- 3 111498715 . G . . NT END=111564667;NT GT ./. 3 111548774 rs376269117 AAC A 9 idl,rn VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=NA;NP=8;Gene=PLCXD2/NM_001185106.1/1;CC=c.*34-15850_*34-15849delCA;VC=Intron;Gene=PLCXD2/NM_153268.3/0;CC=c.867-15850_867-15849delCA;VC=Intron;Gene=PHLDB2/NM_001134437.1/0;CC=c.-48-15850_-48-15849delCA;VC=Intron;RN=22 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:AAC,A:7:6:0:5:4,3:128,130:0.00,9.20:0.00,6.16:0.00,3.04:0.00,0.64:0.00,0.89:0.00,0.89:60,60:26.8,80.0:0,2:0,0:84,48:33,90:41,7:-,NM_001185106.1(PLCXD2) c.*34-15893_*34-15892delAC:-,NOT_FOUND:-,NOT_FOUND 3 111564717 . T . . NT END=111578026;NT GT ./. 3 111564985 rs937558 T A 18 nt VT=SNV;PN=G;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.01697,A/0.983;PC=0.001;Gene=PLCXD2/NM_001185106.1/1;CC=c.*351T>A;VC=3UTR;Gene=PLCXD2/NM_153268.3/0;CC=c.*269T>A;VC=3UTR;Gene=PHLDB2/NM_001134437.1/0;CC=c.67+203T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:157:18.08:0.00:18.08:1.00:0.00:1.00:60:31.4:0:0:117:34:8:NM_001185106.1(PLCXD2) c.*351T>A,NM_001185106.1(PLCXD2) c.*351T>A:0.98,0.98:NOT_FOUND,NOT_FOUND 3 111577836 rs9883806 A T 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.4006,T/0.5994;Gene=PHLDB2/NM_001134437.1/0;CC=c.67+13054A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:T:6:6:0:0:6:169:19.70:19.70:0.00:1.00:1.00:0.00:60:65.5:0:0:27:121:15:NM_001134438.1(PHLDB2) c.-411-u191A>T,NM_001134438.1(PHLDB2) c.-411-u191A>T:0.66,0.66:NOT_FOUND,NOT_FOUND 3 111577924 rs17490485 G A 45 nt VT=SNV;PN=A;NN=G;SST=Single;DP=38;DB;DBA=NA;PAF=G/0.9748,A/0.02516;Gene=PHLDB2/NM_001134437.1/0;CC=c.67+13142G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:38:38:0:0:15,23:485,765:44.59,0.00:43.08,0.00:1.51,0.00:1.00,0.00:1.00,0.00:0.87,0.00:60,60:104.3,52.1:0,0:0,0:32,43:119,108:31,28:NM_001134438.1(PHLDB2) c.-411-u103G>A,-:0.04,-:NOT_FOUND,- 3 111577994 rs13063315 G T 219 nt VT=SNV;PN=C;NN=G;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.4056,T/0.5944;PC=0.868;Gene=PHLDB2/NM_001134437.1/0;CC=c.67+13212G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:156:G,T:60:58:0:0:1,59:13,1928:0.00,218.91:0.00,183.18:0.00,35.73:0.00,1.00:0.00,1.00:0.00,1.00:60,60:137.0,86.2:0,0:0,0:90,70:47,80:0,39:NM_001134438.1(PHLDB2) c.-411-u33G>T,NM_001134438.1(PHLDB2) c.-411-u33G>T:0.65,0.65:NOT_FOUND,NOT_FOUND 3 111578045 rs13063024 C T 238 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=66;DB;DBA=NA;PAF=C/0.4058,T/0.5942;Gene=PHLDB2/NM_001134437.1/0;CC=c.67+13263C>T;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.-393C>T;VC=5UTR;Gene=PHLDB2/NM_145753.2/0;CC=c.-393C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:189:T:66:57:0:0:66:2070:238.31:166.10:72.21:1.00:1.00:1.00:60:92.3:0:0:63:86:33:NM_001134438.1(PHLDB2) c.-393C>T,NM_001134438.1(PHLDB2) c.-393C>T:0.66,0.66:NOT_FOUND,NOT_FOUND 3 111578069 rs73852716 C T 94 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=81;DB;DBA=NA;PAF=C/0.9601,T/0.03994;PC=0.008;Gene=PHLDB2/NM_001134437.1/0;CC=c.67+13287C>T;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.-369C>T;VC=5UTR;Gene=PHLDB2/NM_145753.2/0;CC=c.-369C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:81:64:0:0:46,1,34:1500,12,1020:0.00,-0.06,94.46:0.00,0.05,70.00:0.00,-0.11,24.46:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:61.5,66.0,103.4:0,0,0:0,0,0:56,57,62:89,94,83:36,0,32:-,NM_001134438.1(PHLDB2) c.-369C>T:-,0.05:-,NOT_FOUND 3 111578124 rs13063198 C T 392 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=108;DB;DBA=NA;PAF=C/0.3219,T/0.6781;Gene=PHLDB2/NM_001134437.1/0;CC=c.67+13342C>T;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.-314C>T;VC=5UTR;Gene=PHLDB2/NM_145753.2/0;CC=c.-314C>T;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:108:79:0:0:1,107:12,3420:0.14,392.48:0.00,228.93:0.14,163.55:0.00,1.00:0.00,1.00:0.00,1.00:60,60:61.0,55.4:0,0:0,0:31,54:100,93:0,29:NM_001134438.1(PHLDB2) c.-314C>T,NM_001134438.1(PHLDB2) c.-314C>T:0.73,0.73:NOT_FOUND,NOT_FOUND 3 111578424 . G . . NT END=111578567;NT GT ./. 3 111578726 . G . . NT END=111602910;NT GT ./. 3 111602770 rs6805339 G A 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.5387,A/0.4613;Gene=PHLDB2/NM_001134437.1/0;CC=c.68-141G>A;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.-14-141G>A;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.-14-141G>A;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.-14-141G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:13,8:411,236:41.27,0.00:41.27,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:55.3,1.5:0,0:0,0:38,62:113,87:27,27:NM_001134438.1(PHLDB2) c.-14-141G>A,-:0.49,-:NOT_FOUND,- 3 111602828 rs6805359 G A 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=G/0.4579,A/0.5421;Gene=PHLDB2/NM_001134437.1/0;CC=c.68-83G>A;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.-14-83G>A;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.-14-83G>A;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.-14-83G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:31:26:0:0:19,12:622,371:62.29,0.00:45.24,0.00:17.05,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.6,2.6:0,0:0,0:36,74:114,75:25,49:NM_001134438.1(PHLDB2) c.-14-83G>A,-:0.53,-:NOT_FOUND,- 3 111604260 . G . . NT END=111630456;NT GT ./. 3 111604541 rs1283007 G C 11 nt VT=SNV;PN=G;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=PHLDB2/NM_001134437.1/0;CC=c.1416+282G>C;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1335+282G>C;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1335+282G>C;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1335+282G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:62:C,G:6:0:0:0:4,2:108,65:11.03,0.00:0.00,0.00:11.03,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:33.0,0.0:0,0:0,0:79,98:71,53:36,16:NM_001134438.1(PHLDB2) c.1335+282G>C,-:0.88,-:NOT_FOUND,- 3 111617029 rs59713880 T G 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=1;NP=1;NP=2;NP=229;NP=55;Gene=PHLDB2/NM_001134437.1/0;CC=c.1416+12770T>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1335+12770T>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1335+12770T>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1335+12770T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:76:G,T,I:8:5:1:0:3,4,1:103,114,34:9.64,0.00,2.74:3.14,0.00,-0.12:6.49,0.00,2.86:0.67,0.00,0.00:0.90,0.00,0.00:0.95,0.00,0.00:60,60,60:34.3,0.0,0.0:0,0,0:0,0,0:135,116,80:15,24,71:5,14,0:NM_001134438.1(PHLDB2) c.1335+12770T>G,-:NOT_FOUND,-:NOT_FOUND,- 3 111630572 . G . . NT END=111632165;NT GT ./. 3 111631920 rs9819688 C A 12 nt VT=SNV;PN=A;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.7532,A/0.2468;Gene=PHLDB2/NM_001134437.1/0;CC=c.1417-246C>A;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1336-246C>A;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1336-246C>A;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1336-246C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:134:A,C:9:9:0:0:4,5:132,137:12.43,0.00:12.43,0.00:0.00,0.00:0.85,0.00:0.85,0.00:0.00,0.00:60,60:71.0,11.0:0,0:0,0:39,43:98,107:27,35:NM_001134438.1(PHLDB2) c.1336-246C>A,-:0.29,-:NOT_FOUND,- 3 111632550 . G . . NT END=111637918;NT GT ./. 3 111637691 rs6786539 T C 17 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.2185,C/0.7815;PC=0.001;Gene=PHLDB2/NM_001134437.1/0;CC=c.1801-228T>C;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1720-228T>C;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1720-228T>C;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1720-228T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:145:16.84:16.84:0.00:1.00:1.00:0.00:60:75.4:0:0:39:111:10:NM_001134438.1(PHLDB2) c.1720-228T>C,NM_001134438.1(PHLDB2) c.1720-228T>C:0.82,0.82:NOT_FOUND,NOT_FOUND 3 111637692 rs6773761 G C 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.2188,C/0.7812;Gene=PHLDB2/NM_001134437.1/0;CC=c.1801-227G>C;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1720-227G>C;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1720-227G>C;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1720-227G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:5:0:0:5:140:16.35:16.35:0.00:1.00:1.00:0.00:60:75.4:0:0:40:110:10:NM_001134438.1(PHLDB2) c.1720-227G>C,NM_001134438.1(PHLDB2) c.1720-227G>C:0.82,0.82:NOT_FOUND,NOT_FOUND 3 111637816 rs16858868 A G 17 nt VT=SNV;PN=C;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.6615,G/0.3385;Gene=PHLDB2/NM_001134437.1/0;CC=c.1801-103A>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1720-103A>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1720-103A>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1720-103A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:189:A,G:18:18:0:0:11,7:373,192:0.00,17.31:0.00,16.69:0.00,0.62:0.00,0.98:0.00,0.98:0.00,0.79:60,60:24.6,67.4:0,0:0,0:38,59:113,92:28,16:-,NM_001134438.1(PHLDB2) c.1720-103A>G:-,0.38:-,NOT_FOUND 3 111637904 rs2399399 G A 137 nt VT=SNV;PN=T;NN=T;SST=Single;DP=40;DB;DBA=NA;PAF=G/0.1643,A/0.8357;PC=0.999;Gene=PHLDB2/NM_001134437.1/0;CC=c.1801-15G>A;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1720-15G>A;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1720-15G>A;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1720-15G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:109:A:40:33:0:0:40:1185:137.38:88.97:48.41:1.00:1.00:1.00:60:41.9:0:0:69:77:37:NM_001134438.1(PHLDB2) c.1720-15G>A,NM_001134438.1(PHLDB2) c.1720-15G>A:0.88,0.88:0.863371,0.863371 3 111638063 . G . . NT END=111639128;NT GT ./. 3 111638132 rs951660 A C 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.1641,C/0.8359;Gene=PHLDB2/NM_001134437.1/0;CC=c.1944+70A>C;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1863+70A>C;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1863+70A>C;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1863+70A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:4:0:0:21:716:81.61:9.89:71.72:1.00:1.00:1.00:60:48.7:0:0:105:46:25:NM_001134438.1(PHLDB2) c.1863+70A>C,NM_001134438.1(PHLDB2) c.1863+70A>C:0.88,0.88:NOT_FOUND,NOT_FOUND 3 111638199 rs1282941 A G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.0003994,G/0.9996;Gene=PHLDB2/NM_001134437.1/0;CC=c.1944+137A>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1863+137A>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1863+137A>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1863+137A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:14:G:8:0:0:0:8:266:30.41:0.00:30.41:1.00:0.00:1.00:60:71.6:0:0:86:64:31:NM_001134438.1(PHLDB2) c.1863+137A>G,NM_001134438.1(PHLDB2) c.1863+137A>G:1,1:NOT_FOUND,NOT_FOUND 3 111638223 rs951661 A G 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.6837,G/0.3163;Gene=PHLDB2/NM_001134437.1/0;CC=c.1944+161A>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1863+161A>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1863+161A>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1863+161A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:69:A,G:6:0:0:0:4,2:118,72:0.00,6.50:0.00,0.00:0.00,6.50:0.00,0.89:0.00,0.00:0.00,0.89:60,60:57.0,106.5:0,0:0,0:80,110:70,40:33,2:-,NM_001134438.1(PHLDB2) c.1863+161A>G:-,0.38:-,NOT_FOUND 3 111638952 rs6779756 C T 37 nt VT=SNV;PN=T;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1643,T/0.8357;Gene=PHLDB2/NM_001134437.1/0;CC=c.1945-177C>T;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.1864-177C>T;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.1864-177C>T;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.1864-177C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:20:T:10:10:0:0:10:320:36.77:36.77:0.00:1.00:1.00:0.00:60:43.3:0:0:69:81:30:NM_001134438.1(PHLDB2) c.1864-177C>T,NM_001134438.1(PHLDB2) c.1864-177C>T:0.88,0.88:NOT_FOUND,NOT_FOUND 3 111639267 . G . . NT END=111651115;NT GT ./. 3 111639353 rs937551 G T 87 nt VT=SNV;PN=G;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.156,T/0.844;Gene=PHLDB2/NM_001134437.1/0;CC=c.2082+87G>T;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2001+87G>T;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2001+87G>T;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2001+87G>T;VC=Intron;DM=PHLDB2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:61:T:24:9:0:0:24:756:87.01:21.71:65.30:1.00:1.00:1.00:60:38.0:0:0:117:32:15:NM_001134438.1(PHLDB2) c.2001+87G>T,NM_001134438.1(PHLDB2) c.2001+87G>T:0.88,0.88:NOT_FOUND,NOT_FOUND 3 111651245 . G . . NT END=111658321;NT GT ./. 3 111658065 rs63385660 AGT A 15 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=AGT/0.009585,A/0.9904;DB;DBA=NA;PAF=AGT/0.009585,A/0.9904;DB;DBA=NA;PAF=AGT/0.009585,A/0.9904;NP=422;PC=0.001;Gene=PHLDB2/NM_001134437.1/0;CC=c.2083-253_2083-252delTG;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2131-253_2131-252delTG;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2002-253_2002-252delTG;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2131-253_2131-252delTG;VC=Intron;DM=PHLDB2/PH;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:4:4:131:15.01:15.01:0.00:1.00:1.00:0.00:60:0.0:0:0:15:135:5:NM_001134438.1(PHLDB2) c.2131-256_2131-255delGT,NM_001134438.1(PHLDB2) c.2131-256_2131-255delGT:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 111658290 rs712509 T G 62 nt VT=SNV;PN=G;NN=G;SST=Single;DP=52;DB;DBA=NA;PAF=T/0.387,A/.,G/0.613;Gene=PHLDB2/NM_001134437.1/0;CC=c.2083-32T>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2131-32T>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2002-32T>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2131-32T>G;VC=Intron;DM=PHLDB2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:52:48:0:0:22,30:671,922:62.18,0.00:52.27,0.00:9.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.9,8.5:0,0:0,0:54,42:96,106:31,18:NM_001134438.1(PHLDB2) c.2131-32T>G,-:0.59,-:0.491158,- 3 111658478 . G . . NT END=111659381;NT GT ./. 3 111658486 rs712510 T G 241 nt VT=SNV;PN=T;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.009585,G/0.9904;Gene=PHLDB2/NM_001134437.1/0;CC=c.2238+9T>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2286+9T>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2157+9T>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2286+9T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:179:G:63:29:0:0:63:2111:241.08:76.86:164.22:1.00:1.00:1.00:60:40.3:0:0:100:49:24:NM_001134438.1(PHLDB2) c.2286+9T>G,NM_001134438.1(PHLDB2) c.2286+9T>G:0.99,0.99:0.990312,0.990312 3 111659377 rs698358 T C 81 nt VT=SNV;PN=C;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.009585,C/0.9904;NP=3458;Gene=PHLDB2/NM_001134437.1/0;CC=c.2239-5T>C;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2287-5T>C;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2158-5T>C;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2287-5T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:50:A,C:24:20:0:0:1,23:11,703:0.38,80.81:0.38,49.85:0.00,30.96:0.00,1.00:0.00,1.00:0.00,1.00:30,60:217.0,34.4:0,0:0,0:54,17:95,105:0,17:NM_001134438.1(PHLDB2) c.2287-5T>C,NM_001134438.1(PHLDB2) c.2287-5T>C:0.99,0.99:0.990311,0.990311 3 111659493 . G . . NT END=111664114;NT GT ./. 3 111663928 rs6786655 A C 8 nt VT=SNV;PN=C;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.5799,C/0.4201;PC=0.001;Gene=PHLDB2/NM_001134437.1/0;CC=c.2350-187A>C;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2398-187A>C;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2269-187A>C;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2398-187A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:91:A,C:9:9:0:0:6,3:208,95:0.00,8.44:0.00,8.44:0.00,0.00:0.00,0.64:0.00,0.64:0.00,0.00:60,60:8.7,40.0:0,0:0,0:49,40:101,106:20,33:-,NM_001134438.1(PHLDB2) c.2398-187A>C:-,0.44:-,NOT_FOUND 3 111664205 . G . . NT END=111667778;NT GT ./. 3 111667923 . G . . NT END=111668548;NT GT ./. 3 111668738 . G . . NT END=111671418;NT GT ./. 3 111671284 rs712517 A G 93 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.001398,G/0.9986;NP=2396;Gene=PHLDB2/NM_001134437.1/0;CC=c.2584-135A>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2632-135A>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2503-135A>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2632-135A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:62:G:24:24:0:0:24:814:92.85:92.85:0.00:1.00:1.00:0.00:60:43.3:0:0:60:90:45:NM_001134438.1(PHLDB2) c.2632-135A>G,NM_001134438.1(PHLDB2) c.2632-135A>G:1,1:NOT_FOUND,NOT_FOUND 3 111671560 . G . . NT END=111672776;NT GT ./. 3 111672877 . G . . NT END=111677121;NT GT ./. 3 111677143 . G . . NT END=111678991;NT GT ./. 3 111679028 . G . . NT END=111680954;NT GT ./. 3 111679072 rs9816238 A G 35 nt VT=SNV;PN=G;NN=C;SST=Single;DP=18;DB;DBA=NA;PAF=A/0.5495,G/0.4505;Gene=PHLDB2/NM_001134437.1/0;CC=c.2825-1883A>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.2873-1883A>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2744-1883A>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.2873-1883A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:161:A,G:18:9:0:0:6,12:170,347:0.00,35.41:0.00,11.79:0.00,23.62:0.00,1.00:0.00,0.99:0.00,1.00:60,60:28.0,30.6:0,0:0,0:122,114:19,37:14,16:-,NM_001134438.1(PHLDB2) c.2873-1883A>G:-,0.42:-,NOT_FOUND 3 111681160 . G . . NT END=111685459;NT GT ./. 3 111685328 rs774859 T C 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=T/0.001198,C/0.9988;NP=2881;Gene=PHLDB2/NM_001134437.1/0;CC=c.3030-132T>C;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.3078-132T>C;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2949-132T>C;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.3078-132T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:C:8:8:0:0:8:223:26.07:24.04:2.04:1.00:1.00:1.00:60:99.5:0:0:28:122:11:NM_001134438.1(PHLDB2) c.3078-132T>C,NM_001134438.1(PHLDB2) c.3078-132T>C:1,1:NOT_FOUND,NOT_FOUND 3 111685348 rs774858 A G 37 sb,nt VT=SNV;PN=C;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=A/0.3798,G/0.6202;NP=702;PC=0.003;Gene=PHLDB2/NM_001134437.1/0;CC=c.3030-112A>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.3078-112A>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2949-112A>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.3078-112A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:G:11:11:0:0:11:319:37.07:35.08:1.99:1.00:1.00:1.00:60:81.2:0:0:40:111:14:NM_001134438.1(PHLDB2) c.3078-112A>G,NM_001134438.1(PHLDB2) c.3078-112A>G:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 111685374 rs3217516 GGT G 14 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=631;PC=0.003;Gene=PHLDB2/NM_001134437.1/0;CC=c.3030-65_3030-64delGT;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.3078-65_3078-64delGT;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.2949-65_2949-64delGT;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.3078-65_3078-64delGT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:156:GGT,G:13:13:0:5:8,5:253,158:0.00,14.42:0.00,11.27:0.00,3.16:0.00,0.91:0.00,0.91:0.00,0.79:60,60:79.4,38.8:0,0:0,0:63,32:87,118:23,23:-,NM_001134438.1(PHLDB2) c.3078-85_3078-84delGT:-,NOT_FOUND:-,NOT_FOUND 3 111685551 . G . . NT END=111686524;NT GT ./. 3 111686672 . G . . NT END=111688536;NT GT ./. 3 111686738 rs799570 G A 32 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.1416,A/0.8584;Gene=PHLDB2/NM_001134437.1/0;CC=c.3267+67G>A;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.3315+67G>A;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.3186+67G>A;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.3315+67G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:29:4:0:0:11,18:353,555:32.20,0.00:1.31,0.00:30.89,0.00:1.00,0.00:0.85,0.00:1.00,0.00:60,70:47.1,27.1:0,0:0,0:106,113:45,37:26,19:NM_001134438.1(PHLDB2) c.3315+67G>A,-:0.85,-:NOT_FOUND,- 3 111688757 . G . . NT END=111692578;NT GT ./. 3 111692665 . G . . NT END=111693269;NT GT ./. 3 111692693 rs2895388 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.8255,G/0.1745;Gene=PHLDB2/NM_001134437.1/0;CC=c.3573+29A>G;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.3621+29A>G;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.3492+29A>G;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.3621+29A>G;VC=Intron;DM=PHLDB2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:19:8:0:0:11,8:366,269:0.00,25.10:0.00,2.65:0.00,22.45:0.00,0.99:0.00,0.98:0.00,1.00:60,60:1.8,38.9:0,0:0,0:87,96:64,54:33,35:-,NM_001134438.1(PHLDB2) c.3621+29A>G:-,0.18:-,0.202157 3 111692829 rs774852 C T 34 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.1282,T/0.8718;Gene=PHLDB2/NM_001134437.1/0;CC=c.3573+165C>T;VC=Intron;Gene=PHLDB2/NM_001134438.1/1;CC=c.3621+165C>T;VC=Intron;Gene=PHLDB2/NM_145753.2/0;CC=c.3492+165C>T;VC=Intron;Gene=PHLDB2/NM_001134439.1/0;CC=c.3621+165C>T;VC=Intron;DM=PHLDB2/PH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:19:T:10:2:0:0:10:289:33.61:6.25:27.36:1.00:1.00:1.00:60:61.7:0:0:114:36:25:NM_001134438.1(PHLDB2) c.3621+165C>T,NM_001134438.1(PHLDB2) c.3621+165C>T:0.86,0.86:NOT_FOUND,NOT_FOUND 3 111693411 . T . . NT END=111697908;NT GT ./. 3 111697741 rs812149 G C 17 nt VT=SNV;PN=C;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.8275,C/0.1725;Gene=ABHD10/NM_001272069.1/1;CC=c.-168G>C;VC=5UTR;Gene=ABHD10/NM_018394.3/0;CC=c.-168G>C;VC=5UTR;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:189:C,G:17:17:0:0:7,10:190,302:17.32,0.00:17.32,0.00:0.00,0.00:0.98,0.00:0.98,0.00:0.00,0.00:60,60:56.4,7.8:0,0:0,0:43,22:105,129:5,18:NM_018394.2(ABHD10) c.-81-u87G>C,-:0.18,-:NOT_FOUND,- 3 111697867 rs2289598 T C 132 nt VT=SNV;PN=G;NN=C;SST=Single;DP=92;DB;DBA=NA;PAF=T/0.8273,C/0.1727;Gene=ABHD10/NM_001272069.1/1;CC=c.-42T>C;VC=5UTR;Gene=ABHD10/NM_018394.3/0;CC=c.-42T>C;VC=5UTR;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:92:84:0:0:43,49:1396,1478:132.49,0.00:99.41,0.00:33.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.0,6.0:0,0:0,0:54,46:86,104:32,22:NM_018394.2(ABHD10) c.-42T>C,-:0.18,-:0.201553,- 3 111698051 . G . . NT END=111700630;NT GT ./. 3 111700815 . G . . NT END=111705110;NT GT ./. 3 111705223 . G . . NT END=111705760;NT GT ./. 3 111705275 rs60295420 G GTTTGTTTTGT 11 nt VT=INS;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.4868,GTTTGT/0.3466,GTTTGTTTTGT/0.1665;DB;DBA=NA;PAF=G/0.4868,GTTTGTTTTGT/0.1665;NP=137;NP=893;PC=0.028;Gene=ABHD10/NM_001272069.1/1;CC=c.438+76_438+77insGTTTTGTTTT;VC=Intron;Gene=ABHD10/NM_018394.3/0;CC=c.438+76_438+77insGTTTTGTTTT;VC=Intron;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:89:G,GTTTGTTTTGT:33:7:5:0:28,5:899,151:0.00,11.40:0.00,1.83:0.00,9.58:0.00,0.79:0.00,0.64:0.00,0.97:60,60:16.6,6.4:0,0:0,0:113,75:31,76:21,7:-,NM_018394.2(ABHD10) c.438+53_438+54insTTTGTTTTGT:-,NOT_FOUND:-,NOT_FOUND 3 111705368 rs1709223 T C 50 nt VT=SNV;PN=C;NN=G;SST=Single;DP=15;DB;DBA=NA;PAF=T/0.1284,C/0.8716;PC=0.064;Gene=ABHD10/NM_001272069.1/1;CC=c.438+146T>C;VC=Intron;Gene=ABHD10/NM_018394.3/0;CC=c.438+146T>C;VC=Intron;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:C:15:0:0:0:15:430:50.12:0.00:50.12:1.00:0.00:1.00:60:34.5:0:0:90:60:25:NM_018394.2(ABHD10) c.438+146T>C,NM_018394.2(ABHD10) c.438+146T>C:0.86,0.86:NOT_FOUND,NOT_FOUND 3 111705899 . G . . NT END=111709546;NT GT ./. 3 111705992 rs3804765 A G 36 nt VT=SNV;PN=A;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.6631,G/0.3369;Gene=ABHD10/NM_001272069.1/1;CC=c.576+94A>G;VC=Intron;Gene=ABHD10/NM_018394.3/0;CC=c.576+94A>G;VC=Intron;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:3:0:0:12,12:403,372:0.00,35.67:0.00,3.58:0.00,32.09:0.00,1.00:0.00,0.89:0.00,1.00:60,60:1.2,55.2:0,0:0,0:102,97:47,53:20,31:-,NM_018394.2(ABHD10) c.576+94A>G:-,0.33:-,NOT_FOUND 3 111709599 . g . . NT END=111710223;NT GT ./. 3 111709664 rs7637202 T C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=T/0.8211,C/0.1789;PC=0.027;Gene=ABHD10/NM_001272069.1/1;CC=c.*10+66T>C;VC=Intron;Gene=ABHD10/NM_018394.3/0;CC=c.577-560T>C;VC=Intron;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:16:8:0:0:6,10:211,312:19.37,0.00:4.56,0.00:14.80,0.00:0.95,0.00:0.67,0.00:1.00,0.00:60,60:36.5,5.5:0,0:0,0:90,130:53,21:32,13:NM_018394.2(ABHD10) c.577-560T>C,-:0.19,-:NOT_FOUND,- 3 111710140 rs6795440 T G 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=T/0.8211,G/0.1789;PC=0.010;Gene=ABHD10/NM_001272069.1/1;CC=c.*11-84T>G;VC=Intron;Gene=ABHD10/NM_018394.3/0;CC=c.577-84T>G;VC=Intron;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:29:29:0:0:10,19:331,616:29.75,0.00:26.18,0.00:3.56,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:60.2,5.5:0,0:0,0:47,48:102,100:21,32:NM_018394.2(ABHD10) c.577-84T>G,-:0.19,-:NOT_FOUND,- 3 111710206 rs6795538 T C 62 nt VT=SNV;PN=T;NN=C;SST=Single;DP=51;DB;DBA=NA;PAF=T/0.8295,C/0.1705;Gene=ABHD10/NM_001272069.1/1;CC=c.*11-18T>C;VC=Intron;Gene=ABHD10/NM_018394.3/0;CC=c.577-18T>C;VC=Intron;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:51:47:0:0:22,29:669,889:62.22,0.00:51.19,0.00:11.03,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:57.0,9.7:0,0:0,0:37,36:113,110:25,27:NM_018394.2(ABHD10) c.577-18T>C,-:0.18,-:0.217779,- 3 111710398 rs17429033 A G 135 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.973,G/0.02696;PC=0.628;Gene=ABHD10/NM_001272069.1/1;CC=c.*185A>G;VC=3UTR;Gene=ABHD10/NM_018394.3/0;CC=c.751A>G;ProtCh=p.I251V;VC=Missense;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:83:53:0:0:38,45:1117,1382:0.00,134.77:0.00,66.62:0.00,68.15:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.3,39.1:0,0:0,0:61,72:87,79:29,44:-,NM_018394.2(ABHD10) c.751A>G (p.Ile251Val):-,0.04:-,0.04867 3 111710569 . T . . NT END=111718269;NT GT ./. 3 111710682 rs3749308 A C 20 nt VT=SNV;PN=T;NN=A;SST=Single;DP=15;DB;DBA=NA;PAF=A/0.8207,C/0.1793;PC=0.017;Gene=ABHD10/NM_001272069.1/1;CC=c.*469A>C;VC=3UTR;Gene=ABHD10/NM_018394.3/0;CC=c.*114A>C;VC=3UTR;Gene=ABHD10/NR_073570.1/0;VC=NonCoding;Gene=ABHD10/NR_073571.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:15:0:0:0:9,6:274,211:0.00,19.59:0.00,0.00:0.00,19.59:0.00,0.96:0.00,0.00:0.00,0.96:60,60:7.0,51.7:0,0:0,0:108,117:43,34:29,11:-,NM_018394.2(ABHD10) c.*114A>C:-,0.19:-,NOT_FOUND 3 111718450 . G . . NT END=111719618;NT GT ./. 3 111719493 rs774764 A G 25 nt VT=SNV;PN=T;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.4437,G/0.5563;Gene=TAGLN3/NM_001008272.1/1;CC=c.181-126A>G;VC=Intron;Gene=TAGLN3/NM_013259.2/0;CC=c.181-126A>G;VC=Intron;Gene=TAGLN3/NM_001008273.1/0;CC=c.181-126A>G;VC=Intron;DM=TAGLN3/CH;DM=TAGLN3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:17:17:0:0:9,8:282,266:0.00,25.31:0.00,25.31:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:4.3,34.6:0,0:0,0:93,52:58,98:37,44:-,NM_013259.2(TAGLN3) c.181-126A>G:-,0.56:-,NOT_FOUND 3 111719794 . G . . NT END=111730609;NT GT ./. 3 111719879 rs2292582 C T 47 nt VT=SNV;PN=C;NN=C;SST=Single;DP=30;DB;DBA=NA;PAF=C/0.8329,T/0.1671;PC=0.146;Gene=TAGLN3/NM_001008272.1/1;CC=c.355+86C>T;VC=Intron;Gene=TAGLN3/NM_013259.2/0;CC=c.355+86C>T;VC=Intron;Gene=TAGLN3/NM_001008273.1/0;CC=c.355+86C>T;VC=Intron;DM=TAGLN3/CH GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:30:9:0:0:15,15:485,490:0.00,47.11:0.00,10.20:0.00,36.91:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,44.6:0,0:0,0:58,131:92,20:49,12:-,NM_013259.2(TAGLN3) c.355+86C>T:-,0.19:-,NOT_FOUND 3 111730713 . G . . NT END=111732256;NT GT ./. 3 111732399 . G . . NT END=111760804;NT GT ./. 3 111760771 rs774774 A G 198 nt VT=SNV;PN=A;NN=A;SST=Single;DP=51;DB;DBA=NA;PAF=A/0.1797,G/0.8203;PC=1.000;Gene=TMPRSS7/NM_001042575.2/1;CC=c.-34A>G;VC=5UTR;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:143:G:51:44:0:0:51:1735:197.80:131.09:66.71:1.00:1.00:1.00:60:52.8:0:0:52:95:24:NM_001042575.2(TMPRSS7) c.-34A>G,NM_001042575.2(TMPRSS7) c.-34A>G:0.83,0.83:NOT_FOUND,NOT_FOUND 3 111760773 rs11929695 C T 78 nt VT=SNV;PN=A;NN=A;SST=Single;DP=52;DB;DBA=NA;PAF=C/0.8297,T/0.1703;PC=1.000;Gene=TMPRSS7/NM_001042575.2/1;CC=c.-32C>T;VC=5UTR;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:52:45:0:0:27,25:866,819:0.00,78.21:0.00,62.24:0.00,15.96:0.00,1.00:0.00,1.00:0.00,1.00:60,60:37.7,67.6:0,0:0,0:48,54:100,86:28,26:-,NM_001042575.2(TMPRSS7) c.-32C>T:-,0.12:-,0.114104 3 111760898 . G . . NT END=111763101;NT GT ./. 3 111763085 rs4682350 C T 70 nt VT=SNV;PN=T;NN=A;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.1124,T/0.8876;Gene=TMPRSS7/NM_001042575.2/1;CC=c.94-17C>T;VC=Intron;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:49:T:20:20:0:0:20:603:69.72:54.56:15.16:1.00:1.00:1.00:60:38.2:0:0:66:81:41:NM_001042575.2(TMPRSS7) c.94-17C>T,NM_001042575.2(TMPRSS7) c.94-17C>T:0.9,0.9:0.871879,0.871879 3 111763170 . G . . NT END=111764599;NT GT ./. 3 111763278 rs7650559 G T 41 nt VT=SNV;PN=G;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=G/0.1122,T/0.8878;Gene=TMPRSS7/NM_001042575.2/1;CC=c.161+109G>T;VC=Intron;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:23:T:11:3:0:0:11:355:40.75:7.20:33.54:1.00:1.00:1.00:60:46.5:0:0:85:66:30:NM_001042575.2(TMPRSS7) c.161+109G>T,NM_001042575.2(TMPRSS7) c.161+109G>T:0.9,0.9:NOT_FOUND,NOT_FOUND 3 111764791 . G . . NT END=111766585;NT GT ./. 3 111766559 rs1688304 T G 181 nt VT=SNV;PN=A;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=T/0.08466,G/0.9153;Gene=TMPRSS7/NM_001042575.2/1;CC=c.353-27T>G;VC=Intron;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:139:G:50:48:0:0:50:1572:180.95:155.59:25.36:1.00:1.00:1.00:60:39.3:0:0:47:100:28:NM_001042575.2(TMPRSS7) c.353-27T>G,NM_001042575.2(TMPRSS7) c.353-27T>G:0.92,0.92:0.89378,0.89378 3 111766815 . G . . NT END=111768690;NT GT ./. 3 111768600 rs114815335 G A 22 nt VT=SNV;PN=G;NN=C;SST=Single;DP=24;DB;DBA=NA;PAF=G/0.9776,A/0.02236;PC=0.001;Gene=TMPRSS7/NM_001042575.2/1;CC=c.582-91G>A;VC=Intron;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:24:21:0:0:8,16:245,517:21.67,0.00:14.34,0.00:7.34,0.00:0.99,0.00:1.00,0.00:0.92,0.00:60,60:33.5,5.8:0,0:0,0:43,35:105,115:29,23:NM_001042575.2(TMPRSS7) c.582-91G>A,-:0.02,-:NOT_FOUND,- 3 111768822 . G . . NT END=111769517;NT GT ./. 3 111769369 rs568785162 G GAAAAAAA 13 idl,nt VT=INS;SST=Single;DP=9;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.3722,GAAAAA/.,GAAAAAA/.,GAAAAAAA/0.6278;NP=1;NP=2;NP=2;NP=3;Gene=TMPRSS7/NM_001042575.2/1;CC=c.713-139_713-133dupAAAAAAA;VC=Intron;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:G,GAAAAAAA:6:9:7:0:2,4:63,230:0.00,13.29:0.00,13.29:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:35.5,77.8:0,3:0,0:119,46:13,105:20,37:-,NM_001042575.2(TMPRSS7) c.713-149_713-148insAAAAAAA:-,NOT_FOUND:-,NOT_FOUND 3 111769631 . G . . NT END=111775871;NT GT ./. 3 111775979 . G . . NT END=111780633;NT GT ./. 3 111780771 . G . . NT END=111782371;NT GT ./. 3 111782480 . G . . NT END=111785238;NT GT ./. 3 111785350 . G . . NT END=111793142;NT GT ./. 3 111793260 . G . . NT END=111794167;NT GT ./. 3 111794340 . G . . NT END=111795722;NT GT ./. 3 111795992 . G . . NT END=111797588;NT GT ./. 3 111797726 . G . . NT END=111799760;NT GT ./. 3 111799845 rs340151 A T 346 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=92;DB;DBA=NA;PAF=A/0.09006,T/0.9099;PC=1.000;Gene=TMPRSS7/NM_001042575.2/1;CC=c.2068A>T;ProtCh=p.S690C;VC=Missense;Gene=TMPRSS7/NR_026734.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:92:63:0:0:92:3020:345.75:174.42:171.33:1.00:1.00:1.00:60:40.0:0:0:71:76:28:NM_001042575.2(TMPRSS7) c.2068A>T (p.Ser690Cys),NM_001042575.2(TMPRSS7) c.2068A>T (p.Ser690Cys):0.91,0.91:0.904214,0.904214 3 111799932 . T . . NT END=111805254;NT GT ./. 3 111804195 rs202017639 A ATGTGTGTGTG 6 nt VT=INS;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;NP=2;NP=2;PC=0.006;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,ATGTGTGTGTG:4:3:2:0:2,2:41,67:0.00,6.48:0.00,6.90:0.00,-0.43:0.00,0.51:0.00,0.89:0.00,0.79:60,60:51.0,39.5:0,0:0,0:79,58:32,91:29,15:-,NM_001171747.1(C3orf52) c.-73-u987_-73-u986insTGTGTGTGTG:-,NOT_FOUND:-,NOT_FOUND 3 111805393 . G . . NT END=111812206;NT GT ./. 3 111805438 rs397713567 G GT 85 nt VT=INS;SST=Single;DP=76;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=712;Gene=C3orf52/NM_024616.2/1;CC=c.138+47dupT;VC=Intron;Gene=C3orf52/NM_001171747.1/0;CC=c.138+47dupT;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,GT:76:33:30:0:46,30:1514,924:0.00,84.59:0.00,18.85:0.00,65.74:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.2,13.3:0,0:0,0:105,91:42,59:23,28:-,NM_001171747.1(C3orf52) c.138+46_138+47insT:-,NOT_FOUND:-,0.643112 3 111812337 . G . . NT END=111821684;NT GT ./. 3 111821813 . G . . NT END=111828389;NT GT ./. 3 111822017 rs41270437 A G 19 nt VT=SNV;PN=C;NN=C;SST=Single;DP=9;DB;DBA=NA;PAF=A/0.2853,G/0.7147;Gene=C3orf52/NM_024616.2/1;CC=c.396+205A>G;VC=Intron;Gene=C3orf52/NM_001171747.1/0;CC=c.396+205A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:94:A,G:9:0:0:0:3,6:98,189:0.00,19.25:0.00,0.00:0.00,19.25:0.00,0.99:0.00,0.00:0.00,0.99:60,60:3.7,54.8:0,0:0,0:53,75:97,75:30,33:-,NM_001171747.1(C3orf52) c.396+205A>G:-,0.71:-,NOT_FOUND 3 111828384 rs5851818 G GT 54 nt VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=G/0.5895,GT/0.4105;DB;DBA=NA;PAF=G/0.5895,GT/0.4105;NP=1829;Gene=C3orf52/NM_024616.2/1;CC=c.397-3dupT;VC=Intron;Gene=C3orf52/NM_001171747.1/0;CC=c.396+6575dupT;VC=Intron;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:30:25:17:0:12,1,17:420,10,547:0.00,0.09,54.25:0.00,0.17,34.21:0.00,-0.08,20.05:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:38.7,42.0,48.6:0,0,0:0,0,0:52,133,65:98,18,86:16,0,30:-,NM_001171747.1(C3orf52) c.396+6572_396+6573insT:-,0.38:-,0.440164 3 111828423 rs340167 G A 124 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=33;DB;DBA=NA;PAF=G/0.02316,A/0.9768;PC=0.993;Gene=C3orf52/NM_024616.2/1;CC=c.430G>A;ProtCh=p.G144S;VC=Missense;Gene=C3orf52/NM_001171747.1/0;CC=c.396+6611G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:88:A:33:26:0:0:33:1083:123.97:76.59:47.39:1.00:1.00:1.00:60:51.9:0:0:63:82:25:NM_001171747.1(C3orf52) c.396+6611G>A,NM_001171747.1(C3orf52) c.396+6611G>A:0.98,0.98:0.97507,0.97507 3 111828461 . G . . NT END=111831810;NT GT ./. 3 111828476 rs2120095 A G 46 nt VT=SNV;PN=C;NN=T;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.7282,G/0.2718;Gene=C3orf52/NM_024616.2/1;CC=c.467+16A>G;VC=Intron;Gene=C3orf52/NM_001171747.1/0;CC=c.396+6664A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:14:0:0:14,15:455,477:0.00,46.10:0.00,11.41:0.00,34.70:0.00,1.00:0.00,1.00:0.00,1.00:60,60:34.6,54.6:0,0:0,0:94,103:56,48:40,19:-,NM_001171747.1(C3orf52) c.396+6664A>G:-,0.26:-,0.325788 3 111831993 . G . . NT END=111835488;NT GT ./. 3 111832120 rs340165 A G 48 nt VT=SNV;PN=C;NN=C;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.603,G/0.397;Gene=C3orf52/NM_024616.2/1;CC=c.649+128A>G;VC=Intron;Gene=C3orf52/NM_001171747.1/0;CC=c.397-3369A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:23:0:0:0:8,1,14:227,9,477:0.00,0.12,48.10:0.00,0.00,0.00:0.00,0.12,48.10:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:0.0,201.0,38.2:0,0,0:0,0,0:101,118,126:49,33,23:30,0,21:-,NM_001171747.1(C3orf52) c.397-3369A>G:-,0.37:-,NOT_FOUND 3 111835846 . c . . NT END=111842301;NT GT ./. 3 111842620 . C . . NT END=111844072;NT GT ./. 3 111843883 rs923745 T C 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.4567,C/0.5433;Gene=GCSAM/NM_001190259.1/1;CC=c.225+190A>G;VC=Intron;Gene=GCSAM/NM_001190260.1/0;CC=c.174+190A>G;VC=Intron;Gene=GCSAM/NM_152785.4/0;CC=c.219+190A>G;VC=Intron;DM=GCSAM/HGAL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:64:C,T:5:5:0:0:3,2:102,66:10.17,0.00:10.17,0.00:0.00,0.00:0.78,0.00:0.78,0.00:0.00,0.00:60,60:34.0,0.0:0,0:0,0:36,17:115,133:7,10:NM_001190259.1(GCSAM) c.225+190A>G,-:0.58,-:NOT_FOUND,- 3 111844102 . C . . NT END=111845833;NT GT ./. 3 111845521 rs1492487 C A 6 nt VT=SNV;PN=T;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.7147,A/0.2853;Gene=GCSAM/NM_001190259.1/1;CC=c.196+313G>T;VC=Intron;Gene=GCSAM/NM_001190260.1/0;CC=c.145+313G>T;VC=Intron;Gene=GCSAM/NM_152785.4/0;CC=c.190+313G>T;VC=Intron;DM=GCSAM/HGAL GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:48:A,C:4:4:0:0:2,2:66,48:6.36,0.00:4.62,0.00:1.74,0.00:0.51,0.00:0.51,0.00:0.67,0.00:60,60:33.0,31.0:0,0:0,0:58,118:93,33:0,19:NM_001190259.1(GCSAM) c.196+313G>T,-:0.27,-:NOT_FOUND,- 3 111845881 . C . . NT END=111846863;NT GT ./. 3 111846909 . C . . NT END=111849291;NT GT ./. 3 111849167 rs4276157 T C 24 nt VT=SNV;PN=G;NN=T;SST=Single;DP=18;DB;DBA=NA;PAF=T/0.2638,C/0.7362;Gene=GCSAM/NM_001190259.1/1;CC=c.104+125A>G;VC=Intron;Gene=GCSAM/NM_001190260.1/0;CC=c.98+125A>G;VC=Intron;Gene=GCSAM/NM_152785.4/0;CC=c.98+125A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:18:18:0:0:8,10:251,320:23.53,0.00:23.53,0.00:0.00,0.00:0.99,0.00:0.99,0.00:0.00,0.00:60,60:40.4,12.4:0,0:0,0:95,35:55,115:23,15:NM_001190259.1(GCSAM) c.104+125A>G,-:0.74,-:NOT_FOUND,- 3 111849367 . C . . NT END=111851483;NT GT ./. 3 111851511 . A . . NT END=111851938;NT GT ./. 3 111851968 . C . . NT END=111860118;NT GT ./. 3 111860129 . C . . NT END=111870703;NT GT ./. 3 111870811 . C . . NT END=111873843;NT GT ./. 3 111873897 . C . . NT END=111886067;NT GT ./. 3 111873902 rs201930245 T TA 41 idl,rn VT=INS;SST=Single;DP=47;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=268;NP=34;Gene=SLC9C1/NM_183061.1/1;CC=c.3365-7dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T,TA,D:45:26:16:6:2,23,15,5:57,739,476,192:3.50,0.00,40.78,12.20:-0.22,0.00,8.37,5.10:3.72,0.00,32.40,7.10:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:34.5,3.1,18.3,0.0:1,0,1,1:0,0,0,0:63,120,83,89:66,31,67,54:1,22,19,10:-,NM_183061.1(SLC9C1) c.3365-7_3365-6insT:-,NOT_FOUND:-,NOT_FOUND 3 111873996 rs7622733 C T 25 nt VT=SNV;PN=T;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=C/0.6689,T/0.3311;Gene=SLC9C1/NM_183061.1/1;CC=c.3365-100G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:18:3:0:0:10,8:311,262:0.00,24.66:0.00,3.25:0.00,21.41:0.00,0.99:0.00,0.84:0.00,0.99:60,60:8.4,43.9:0,0:0,0:80,108:71,41:23,15:-,NM_183061.1(SLC9C1) c.3365-100G>A:-,0.31:-,NOT_FOUND 3 111874207 rs4682362 A G 16 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.02676,G/0.9732;Gene=SLC9C1/NM_183061.1/1;CC=c.3365-311T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:0:0:0:4:136:15.51:0.00:15.51:1.00:0.00:1.00:60:80.8:0:0:130:20:6:NM_183061.1(SLC9C1) c.3365-311T>C,NM_183061.1(SLC9C1) c.3365-311T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 111885896 rs4682084 A G 46 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.003594,G/0.9964;NP=1789;Gene=SLC9C1/NM_183061.1/1;CC=c.3364+172T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:26:G:12:12:0:0:12:404:46.12:46.12:0.00:1.00:1.00:0.00:60:37.1:0:0:44:106:40:NM_183061.1(SLC9C1) c.3364+172T>C,NM_183061.1(SLC9C1) c.3364+172T>C:1,1:NOT_FOUND,NOT_FOUND 3 111886195 . C . . NT END=111887723;NT GT ./. 3 111886357 rs4682363 A G 61 nt VT=SNV;PN=T;NN=T;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.002796,G/0.9972;NP=1186;PC=0.003;Gene=SLC9C1/NM_183061.1/1;CC=c.3238-163T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:30:G,T:17:0:0:0:16,1:536,10:60.81,0.40:0.00,0.00:60.81,0.40:1.00,0.00:0.00,0.00:1.00,0.00:60,60:34.3,147.0:0,0:0,0:87,65:61,82:19,0:NM_183061.1(SLC9C1) c.3238-163T>C,NM_183061.1(SLC9C1) c.3238-163T>C:1,1:NOT_FOUND,NOT_FOUND 3 111887169 rs56965031 TACACACAC T 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;Gene=SLC9C1/NM_183061.1/1;CC=c.3237+547_3237+554delGTGTGTGT;VC=Intron;RN=5 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:30:TACACACAC,T:3:4:0:3:1,2:34,99:0.00,6.75:0.00,1.54:0.00,5.21:0.00,0.51:0.00,0.51:0.00,0.89:60,60:8.0,20.0:0,1:0,0:115,53:35,64:0,37:-,NM_183061.1(SLC9C1) c.3237+547_3237+554delGTGTGTGT:-,NOT_FOUND:-,NOT_FOUND 3 111887910 . C . . NT END=111888043;NT GT ./. 3 111888176 . C . . NT END=111898377;NT GT ./. 3 111898549 . C . . NT END=111899410;NT GT ./. 3 111899510 . C . . NT END=111900979;NT GT ./. 3 111901106 . C . . NT END=111918167;NT GT ./. 3 111904245 rs4682091 A G 82 nt VT=SNV;PN=G;NN=A;SST=Single;DP=23;DB;DBA=NA;PAF=A/0.02216,G/0.9778;PC=0.671;Gene=SLC9C1/NM_183061.1/1;CC=c.2524-3140T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:58:G:23:23:0:0:23:708:81.71:81.71:0.00:1.00:1.00:0.00:40:43.0:0:0:37:112:14:NM_183061.1(SLC9C1) c.2524-3140T>C,NM_183061.1(SLC9C1) c.2524-3140T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 111909809 rs144851206 CACAT C 10 nt VT=DEL;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=132;PC=0.005;Gene=SLC9C1/NM_183061.1/1;CC=c.2523+8355_2523+8358delATGT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:CACAT,C:6:2:0:3:3,3:95,99:0.00,9.53:0.00,3.43:0.00,6.10:0.00,0.73:0.00,0.79:0.00,0.73:60,70:15.0,0.0:0,0:0,0:57,56:91,46:3,2:-,NM_183061.1(SLC9C1) c.2523+8355_2523+8358delATGT:-,NOT_FOUND:-,NOT_FOUND 3 111918215 rs28516377 C T 121 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=C/0.6641,T/0.3359;PC=0.006;Gene=SLC9C1/NM_183061.1/1;CC=c.2476G>A;ProtCh=p.G826S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:80:56:0:0:43,37:1425,1269:0.00,120.57:0.00,62.47:0.00,58.10:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,68.8:0,0:0,0:60,87:87,53:23,34:-,NM_183061.1(SLC9C1) c.2476G>A (p.Gly826Ser):-,0.25:-,0.300969 3 111918216 rs13098660 A G 117 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=80;DB;DBA=NA;PAF=A/0.1567,G/0.8433;PC=0.077;Gene=SLC9C1/NM_183061.1/1;CC=c.2475T>C;ProtCh=p.F825=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:80:56:0:0:43,37:1421,1235:0.00,117.16:0.00,58.96:0.00,58.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,69.1:0,0:0,0:73,88:75,63:22,36:-,NM_183061.1(SLC9C1) c.2475T>C (p.(=)):-,0.78:-,0.7505 3 111918317 . C . . NT END=111919557;NT GT ./. 3 111919610 . C . . NT END=111921096;NT GT ./. 3 111919761 rs6438037 C T 19 nt VT=SNV;PN=C;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.1715,T/0.8285;Gene=SLC9C1/NM_183061.1/1;CC=c.2323-152G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:22:C,T:6:1:0:0:1,5:32,174:0.00,18.61:0.00,1.95:0.00,16.66:0.00,0.99:0.00,0.89:0.00,0.99:60,60:0.0,36.8:0,0:0,0:27,96:123,54:0,19:-,NM_183061.1(SLC9C1) c.2323-152G>A:-,0.81:-,NOT_FOUND 3 111921010 rs9821935 A G 33 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=A/0.6643,G/0.3357;Gene=SLC9C1/NM_183061.1/1;CC=c.2322+87T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:24:24:0:0:13,11:432,351:0.00,33.16:0.00,29.92:0.00,3.24:0.00,1.00:0.00,1.00:0.00,0.95:60,60:5.6,56.4:0,0:0,0:47,52:100,99:30,43:-,NM_183061.1(SLC9C1) c.2322+87T>C:-,0.32:-,NOT_FOUND 3 111921116 rs9288938 C A 90 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=64;DB;DBA=NA;PAF=C/0.6645,A/0.3355;PC=0.996;Gene=SLC9C1/NM_183061.1/1;CC=c.2303G>T;ProtCh=p.S768I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:64:52:0:0:30,34:946,1162:89.64,0.00:45.97,0.00:43.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:54.7,7.8:0,0:0,0:63,60:81,86:16,31:NM_183061.1(SLC9C1) c.2303G>T (p.Ser768Ile),-:0.32,-:0.302292,- 3 111921225 rs6781844 G T 66 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=58;DB;DBA=NA;PAF=G/0.1699,T/0.8301;PC=0.169;Gene=SLC9C1/NM_183061.1/1;CC=c.2194C>A;ProtCh=p.Q732K;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:58:33:0:0:33,25:1148,718:0.00,66.35:0.00,24.54:0.00,41.82:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.9,56.8:0,0:0,0:79,84:71,66:25,33:-,NM_183061.1(SLC9C1) c.2194C>A (p.Gln732Lys):-,0.81:-,0.740268 3 111921247 . C . . NT END=111923064;NT GT ./. 3 111923047 rs4422273 G A 41 nt VT=SNV;PN=C;NN=A;SST=Single;DP=28;DB;DBA=NA;PAF=G/0.1697,A/0.8303;Gene=SLC9C1/NM_183061.1/1;CC=c.2172+18C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:28:22:0:0:14,14:425,422:40.73,0.00:25.65,0.00:15.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:58.1,4.8:0,0:0,0:58,24:91,118:45,11:NM_183061.1(SLC9C1) c.2172+18C>T,-:0.81,-:0.739272,- 3 111923123 rs4434123 G A 56 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.1697,A/0.8303;Gene=SLC9C1/NM_183061.1/1;CC=c.2114C>T;ProtCh=p.T705I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:33:0:0:19,24:593,804:55.52,0.00:33.83,0.00:21.68,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.3,5.9:0,0:0,0:65,70:86,71:34,25:NM_183061.1(SLC9C1) c.2114C>T (p.Thr705Ile),-:0.81,-:0.740407,- 3 111923251 . C . . NT END=111927024;NT GT ./. 3 111926812 rs4373039 C T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.1715,T/0.8285;PC=0.031;Gene=SLC9C1/NM_183061.1/1;CC=c.1986+213G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:C,T:4:4:0:0:1,3:35,98:0.00,10.25:0.00,10.25:0.00,0.00:0.00,0.85:0.00,0.85:0.00,0.00:60,60:0.0,32.7:0,0:0,0:64,17:87,134:0,4:-,NM_183061.1(SLC9C1) c.1986+213G>A:-,0.8:-,NOT_FOUND 3 111926950 rs17505536 G A 34 nt VT=SNV;PN=G;NN=T;SST=Single;DP=16;DB;DBA=NA;PAF=G/0.8706,A/0.1294;Gene=SLC9C1/NM_183061.1/1;CC=c.1986+75C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:175:A,G:16:15:0:0:10,6:336,179:33.78,0.00:30.48,0.00:3.30,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:33.6,19.8:0,0:0,0:92,8:58,142:38,4:NM_183061.1(SLC9C1) c.1986+75C>T,-:0.16,-:NOT_FOUND,- 3 111927221 . C . . NT END=111936288;NT GT ./. 3 111936118 rs11921877 A G 24 nt VT=SNV;PN=A;NN=T;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.1585,G/0.8415;Gene=SLC9C1/NM_183061.1/1;CC=c.1790+171T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:187:A,G:14:14:0:0:6,8:185,243:0.00,23.96:0.00,23.96:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:28.3,129.5:0,0:0,0:68,27:81,123:29,3:-,NM_183061.1(SLC9C1) c.1790+171T>C:-,0.82:-,NOT_FOUND 3 111936200 rs1388857 C A 73 sb,nt VT=SNV;PN=A;NN=A;SST=Single;DP=44;DB;DBA=NA;PAF=C/0.1715,A/0.8285;Gene=SLC9C1/NM_183061.1/1;CC=c.1790+89G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:44:41:0:0:24,20:744,678:72.67,0.00:70.99,0.00:1.67,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:59.5,52.5:0,0:0,0:46,30:105,110:35,20:NM_183061.1(SLC9C1) c.1790+89G>T,-:0.81,-:NOT_FOUND,- 3 111936207 rs6779306 T A 61 nt VT=SNV;PN=A;NN=T;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.8782,A/0.1218;Gene=SLC9C1/NM_183061.1/1;CC=c.1790+82A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:45:42:0:0:20,25:652,757:61.34,0.00:47.49,0.00:13.85,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:51.5,57.1:0,0:0,0:37,49:103,102:22,33:NM_183061.1(SLC9C1) c.1790+82A>T,-:0.15,-:NOT_FOUND,- 3 111936409 . C . . NT END=111939974;NT GT ./. 3 111936491 rs9288939 A G 60 nt VT=SNV;PN=C;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.1697,G/0.8303;PC=0.002;Gene=SLC9C1/NM_183061.1/1;CC=c.1671-83T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G:31:10:0:0:12,1,18:385,14,605:0.00,0.35,60.31:0.00,0.47,8.02:0.00,-0.13,52.29:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:2.8,130.0,48.6:0,0,0:0,0,0:102,145,92:45,6,46:14,0,37:-,NM_183061.1(SLC9C1) c.1671-83T>C:-,0.81:-,NOT_FOUND 3 111936564 rs9288940 G A 29 nt VT=SNV;PN=C;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.1705,A/0.8295;Gene=SLC9C1/NM_183061.1/1;CC=c.1671-156C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:19:0:0:0:9,10:303,311:28.90,0.00:0.00,0.00:28.90,0.00:1.00,0.00:0.00,0.00:1.00,0.00:60,60:59.7,2.1:0,0:0,0:106,65:45,85:5,30:NM_183061.1(SLC9C1) c.1671-156C>T,-:0.81,-:NOT_FOUND,- 3 111940073 . C . . NT END=111950207;NT GT ./. 3 111949987 rs9288944 T C 13 nt VT=SNV;PN=T;NN=T;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=55;Gene=SLC9C1/NM_183061.1/1;CC=c.1572+221A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:135:C,T:8:8:0:0:4,4:135,132:13.00,0.00:13.00,0.00:0.00,0.00:0.87,0.00:0.87,0.00:0.00,0.00:60,60:192.8,35.0:0,1:0,0:23,57:128,84:14,17:NM_183061.1(SLC9C1) c.1572+221A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 111950003 rs376235497 TTCTTTC T 9 nt VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;NP=79;PC=0.003;Gene=SLC9C1/NM_183061.1/1;CC=c.1572+199_1572+204delGAAAGA;VC=Intron;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:96:TTCTTTC,T:8:8:0:3:5,3:164,98:0.00,8.93:0.00,8.93:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:166.2,26.7:0,0:0,0:52,71:99,80:23,30:-,NM_183061.1(SLC9C1) c.1572+199_1572+204delGAAAGA:-,NOT_FOUND:-,NOT_FOUND 3 111950007 rs57363436 T C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.005;Gene=SLC9C1/NM_183061.1/1;CC=c.1572+201A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:25:C,T:5:5:0:3:4,1:139,32:14.72,0.00:14.72,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:192.8,60.0:0,0:0,0:43,77:108,54:14,0:NM_183061.1(SLC9C1) c.1572+201A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 111950009 rs35946076 C T 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=NA;PC=0.003;Gene=SLC9C1/NM_183061.1/1;CC=c.1572+199G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:C,T:5:5:0:3:1,4:12,130:0.00,13.86:0.00,13.86:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:60.0,192.8:0,0:0,0:79,45:52,106:0,14:-,NM_183061.1(SLC9C1) c.1572+199G>A:-,NOT_FOUND:-,NOT_FOUND 3 111950019 rs35190226 C T 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=NA;NP=211;Gene=SLC9C1/NM_183061.1/1;CC=c.1572+189G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:163:C,T,D:12:12:0:1:6,5,1:173,165,16:0.00,15.58,0.80:0.00,15.58,0.80:0.00,0.00,0.00:0.00,0.92,0.00:0.00,0.92,0.00:0.00,0.00,0.00:60,60,60:25.3,181.4,77.0:5,0,0:0,0,0:66,42,3:84,109,148:38,26,0:-,NM_183061.1(SLC9C1) c.1572+189G>A:-,NOT_FOUND:-,NOT_FOUND 3 111950021 rs71134811 T C 16 nt VT=SNV;PN=T;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=173;NP=6;Gene=SLC9C1/NM_183061.1/1;CC=c.1572+187A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:81:C,T,I:11:11:2:1:5,4,2:167,133,59:16.32,0.00,5.03:16.32,0.00,5.03:0.00,0.00,0.00:0.93,0.00,0.00:0.93,0.00,0.00:0.00,0.00,0.00:60,60,60:181.4,20.0,36.0:0,0,0:0,0,0:44,68,49:107,82,91:26,34,41:NM_183061.1(SLC9C1) c.1572+187A>G,-:NOT_FOUND,-:NOT_FOUND,- 3 111950334 . C . . NT END=111958686;NT GT ./. 3 111950367 rs55735606 C G 74 nt VT=SNV;PN=A;NN=A;SST=Single;DP=53;DB;DBA=NA;PAF=C/0.7346,G/0.2654;Gene=SLC9C1/NM_183061.1/1;CC=c.1447-34G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:53:15:0:0:28,25:928,784:0.00,74.37:0.00,9.26:0.00,65.11:0.00,1.00:0.00,1.00:0.00,1.00:60,60:8.8,43.6:0,0:0,0:93,95:54,41:32,24:-,NM_183061.1(SLC9C1) c.1447-34G>C:-,0.29:-,0.323529 3 111958460 rs7627314 A G 6 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.7338,G/0.2662;Gene=SLC9C1/NM_183061.1/1;CC=c.1446+227T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:62:A,G:4:4:0:0:2,2:64,67:0.00,6.45:0.00,6.45:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:65.5,50.5:0,0:0,0:38,22:111,128:25,21:-,NM_183061.1(SLC9C1) c.1446+227T>C:-,0.29:-,NOT_FOUND 3 111958510 rs4682379 C T 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.6723,T/0.3277;Gene=SLC9C1/NM_183061.1/1;CC=c.1446+177G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:88:C,T:10:10:0:0:3,7:95,229:0.00,23.59:0.00,23.59:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:44.7,42.6:0,0:0,0:51,32:100,119:6,11:-,NM_183061.1(SLC9C1) c.1446+177G>A:-,0.31:-,NOT_FOUND 3 111958577 rs10511310 C T 30 nt VT=SNV;PN=T;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8782,T/0.1218;Gene=SLC9C1/NM_183061.1/1;CC=c.1446+110G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:24:24:0:0:14,10:483,328:0.00,30.49:0.00,30.49:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:16.1,37.1:0,0:0,0:60,41:89,109:39,20:-,NM_183061.1(SLC9C1) c.1446+110G>A:-,0.15:-,NOT_FOUND 3 111958854 . C . . NT END=111962841;NT GT ./. 3 111959114 rs4234412 T G 7 nt VT=SNV;PN=T;NN=C;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3566,G/0.6434;Gene=SLC9C1/NM_183061.1/1;CC=c.1280-261A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:69:G,T:5:0:0:0:2,3:71,84:6.59,0.00:0.00,0.00:6.59,0.00:0.46,0.00:0.00,0.00:0.46,0.00:60,60:53.5,32.7:0,0:0,0:70,23:80,125:47,23:NM_183061.1(SLC9C1) c.1280-261A>C,-:0.64,-:NOT_FOUND,- 3 111962851 rs6768523 T C 69 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=T/0.6751,C/0.3249;PC=0.185;Gene=SLC9C1/NM_183061.1/1;CC=c.1270A>G;ProtCh=p.T424A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:43:32:0:0:21,22:719,686:68.98,0.00:43.09,0.00:25.89,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:37.6,4.4:0,0:0,0:54,48:95,89:26,22:NM_183061.1(SLC9C1) c.1270A>G (p.Thr424Ala),-:0.31,-:0.291635,- 3 111962924 . C . . NT END=111981770;NT GT ./. 3 111963046 rs6438057 G T 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=18;DB;DBA=NA;PAF=G/0.6705,T/0.3295;Gene=SLC9C1/NM_183061.1/1;CC=c.1198-123C>A;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:18:0:0:0:8,10:222,298:0.00,29.13:0.00,0.00:0.00,29.13:0.00,1.00:0.00,0.00:0.00,1.00:60,60:19.2,55.9:0,0:0,0:81,79:69,71:54,16:-,NM_183061.1(SLC9C1) c.1198-123C>A:-,0.31:-,NOT_FOUND 3 111963143 rs7374744 G A 18 nt VT=SNV;PN=C;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.003594,A/0.9964;NP=450;Gene=SLC9C1/NM_183061.1/1;CC=c.1198-220C>T;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:0:0:0:5:153:17.68:0.00:17.68:1.00:0.00:1.00:60:48.2:0:0:121:29:17:NM_183061.1(SLC9C1) c.1198-220C>T,NM_183061.1(SLC9C1) c.1198-220C>T:1,1:NOT_FOUND,NOT_FOUND 3 111981696 rs5851826 CA C 23 rn VT=DEL;SST=Single;DP=13;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=981;PC=0.113;Gene=SLC9C1/NM_183061.1/1;CC=c.1197+74delT;VC=Intron;DM=SLC9C1/Na_H_Exchanger;RN=7 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:CA,C:13:13:0:7:6,7:162,231:0.00,22.56:0.00,22.56:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:23.2,34.3:0,0:0,0:50,62:100,89:42,24:-,NM_183061.1(SLC9C1) c.1197+74delT:-,NOT_FOUND:-,NOT_FOUND 3 111981704 rs5003791 C T 29 nt VT=SNV;PN=A;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=C/0.3574,T/0.6426;Gene=SLC9C1/NM_183061.1/1;CC=c.1197+67G>A;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:17:17:0:0:8,9:243,296:0.00,28.80:0.00,27.00:0.00,1.80:0.00,1.00:0.00,1.00:0.00,0.69:60,60:17.4,35.1:0,0:0,0:32,61:118,85:30,39:-,NM_183061.1(SLC9C1) c.1197+67G>A:-,NOT_FOUND:-,NOT_FOUND 3 111981849 rs9860819 C T 59 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.357,T/0.643;PC=1.000;Gene=SLC9C1/NM_183061.1/1;CC=c.1119G>A;ProtCh=p.K373=;VC=Silent;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:38:29:0:0:20,18:684,620:0.00,59.17:0.00,34.97:0.00,24.20:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.2,82.2:0,0:0,0:81,72:62,75:44,24:-,NM_183061.1(SLC9C1) c.1119G>A (p.(=)):-,0.64:-,0.579656 3 111981878 rs9809384 T C 66 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=35;DB;DBA=NA;PAF=T/0.357,C/0.643;PC=1.000;Gene=SLC9C1/NM_183061.1/1;CC=c.1090A>G;ProtCh=p.I364V;VC=Missense;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:35:23:0:0:20,15:664,508:65.55,0.00:34.48,0.00:31.08,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.8,2.2:0,0:0,0:67,72:82,79:38,36:NM_183061.1(SLC9C1) c.1090A>G (p.Ile364Val),-:0.64,-:0.580117,- 3 111981924 rs9809404 T C 58 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=33;DB;DBA=NA;PAF=T/0.357,C/0.643;PC=0.985;Gene=SLC9C1/NM_183061.1/1;CC=c.1044A>G;ProtCh=p.I348M;VC=Missense;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:33:18:0:0:18,15:596,479:58.30,0.00:25.06,0.00:33.24,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:87.7,2.9:0,0:0,0:75,71:75,80:22,39:NM_183061.1(SLC9C1) c.1044A>G (p.Ile348Met),-:0.64,-:0.580194,- 3 111981946 . C . . NT END=111983046;NT GT ./. 3 111982074 rs9864872 C A 16 nt VT=SNV;PN=A;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=C/0.6709,A/0.3291;Gene=SLC9C1/NM_183061.1/1;CC=c.1023-129G>T;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:169:A,C:12:0:0:0:5,7:168,239:15.65,0.00:0.00,0.00:15.65,0.00:0.92,0.00:0.00,0.00:0.92,0.00:60,60:47.6,14.6:0,0:0,0:50,68:100,83:24,10:NM_183061.1(SLC9C1) c.1023-129G>T,-:0.31,-:NOT_FOUND,- 3 111982179 rs4450780 A C 21 nt VT=SNV;PN=A;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=A/0.003594,C/0.9964;NP=473;Gene=SLC9C1/NM_183061.1/1;CC=c.1023-234T>G;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:185:21.33:0.00:21.33:1.00:0.00:1.00:60:62.2:0:0:126:25:14:NM_183061.1(SLC9C1) c.1023-234T>G,NM_183061.1(SLC9C1) c.1023-234T>G:1,1:NOT_FOUND,NOT_FOUND 3 111982892 rs398082360 CA C 17 rn VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=CA/0.6683,C/0.3317;DB;DBA=NA;PAF=CA/0.6683,C/0.3317;NP=142;Gene=SLC9C1/NM_183061.1/1;CC=c.1022+154delT;VC=Intron;DM=SLC9C1/Na_H_Exchanger;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:59:CA,C:7:7:0:5:2,5:65,162:0.00,16.77:0.00,16.77:0.00,0.00:0.00,0.98:0.00,0.98:0.00,0.00:60,60:0.0,0.0:0,0:0,0:10,41:140,110:5,22:-,NM_183061.1(SLC9C1) c.1022+154delT:-,0.31:-,NOT_FOUND 3 111983157 rs62276974 G A 122 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=67;DB;DBA=NA;PAF=G/0.8784,A/0.1216;PC=0.998;Gene=SLC9C1/NM_183061.1/1;CC=c.912C>T;ProtCh=p.L304=;VC=Silent;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:67:40:0:0:40,27:1227,896:122.02,0.00:55.84,0.00:66.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:34.2,27.9:0,0:0,0:79,68:65,71:28,32:NM_183061.1(SLC9C1) c.912C>T (p.(=)),-:0.15,-:0.208307,- 3 111983191 . C . . NT END=111985084;NT GT ./. 3 111983197 rs6788397 C T 77 nt VT=SNV;PN=T;NN=A;SST=Single;DP=69;DB;DBA=NA;PAF=C/0.3568,T/0.6432;PC=0.609;Gene=SLC9C1/NM_183061.1/1;CC=c.879-7G>A;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:69:33:0:0:43,26:1400,843:0.00,76.83:0.00,33.29:0.00,43.54:0.00,1.00:0.00,1.00:0.00,1.00:60,60:29.5,34.2:0,0:0,0:95,82:53,49:35,36:-,NM_183061.1(SLC9C1) c.879-7G>A:-,0.64:-,0.582665 3 111983393 rs6801501 T C 19 nt VT=SNV;PN=A;NN=T;SST=Single;DP=9;DB;DBA=NA;PAF=T/0.6709,C/0.3291;Gene=SLC9C1/NM_183061.1/1;CC=c.879-203A>G;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:80:C,T:9:0:0:0:6,3:186,84:18.94,0.00:0.00,0.00:18.94,0.00:0.99,0.00:0.00,0.00:0.99,0.00:60,60:46.8,50.0:0,0:0,0:98,81:53,70:13,14:NM_183061.1(SLC9C1) c.879-203A>G,-:0.31,-:NOT_FOUND,- 3 111984970 rs4682098 T C 52 nt VT=SNV;PN=G;NN=A;SST=Single;DP=14;DB;DBA=NA;PAF=T/0.002796,C/0.9972;NP=3154;Gene=SLC9C1/NM_183061.1/1;CC=c.878+115A>G;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:32:C:14:14:0:0:14:453:51.97:51.97:0.00:1.00:1.00:0.00:60:69.0:0:0:21:126:10:NM_183061.1(SLC9C1) c.878+115A>G,NM_183061.1(SLC9C1) c.878+115A>G:1,1:NOT_FOUND,NOT_FOUND 3 111985107 rs9872691 T C 49 PASS VT=SNV;PN=A;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.6709,C/0.3291;PC=0.992;Gene=SLC9C1/NM_183061.1/1;CC=c.856A>G;ProtCh=p.I286V;VC=Missense;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:32:0:0:16,23:526,720:48.77,0.00:29.83,0.00:18.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.4,9.4:0,0:0,0:52,57:98,89:33,29:NM_183061.1(SLC9C1) c.856A>G (p.Ile286Val),-:0.31,-:0.292891,- 3 111985188 . C . . NT END=111988762;NT GT ./. 3 111988925 . C . . NT END=111993743;NT GT ./. 3 111993691 rs11324928 TC T 13 nt VT=DEL;SST=Single;DP=20;DB;DBA=NA;PAF=TC/0.6809,T/0.3191;NP=1352;PC=0.834;Gene=SLC9C1/NM_183061.1/1;CC=c.613+52delG;VC=Intron;DM=SLC9C1/Na_H_Exchanger;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:130:TC,T:20:17:0:5:15,5:498,153:0.00,12.80:0.00,11.63:0.00,1.18:0.00,0.85:0.00,0.98:0.00,0.84:60,60:4.5,37.6:0,0:0,0:51,39:99,112:26,9:-,NM_183061.1(SLC9C1) c.613+52delG:-,0.3:-,NOT_FOUND 3 111993716 rs6805112 G A 26 nt VT=SNV;PN=T;NN=A;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.1532,A/0.8468;PC=0.022;Gene=SLC9C1/NM_183061.1/1;CC=c.613+28C>T;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:22:0:0:9,16:288,550:26.00,0.00:22.02,0.00:3.98,0.00:1.00,0.00:1.00,0.00:0.97,0.00:60,60:35.2,4.2:0,0:0,0:28,70:114,76:23,28:NM_183061.1(SLC9C1) c.613+28C>T,-:0.82,-:0.757831,- 3 111993873 . C . . NT END=111996541;NT GT ./. 3 111996421 rs28421010 C T 38 nt VT=SNV;PN=C;NN=C;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.6891,T/0.3109;Gene=SLC9C1/NM_183061.1/1;CC=c.484+121G>A;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:19:0:0:8,11:247,384:0.00,38.03:0.00,38.03:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,46.0:0,0:0,0:48,57:102,93:25,37:-,NM_183061.1(SLC9C1) c.484+121G>A:-,0.3:-,NOT_FOUND 3 111996554 rs9828502 T C 115 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=68;DB;DBA=NA;PAF=T/0.6891,C/0.3109,G/.;PC=0.992;Gene=SLC9C1/NM_183061.1/1;CC=c.472A>G;ProtCh=p.I158V;VC=Missense;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:68:55:0:0:35,33:1187,1044:114.97,0.00:65.02,0.00:49.94,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.7,7.5:0,0:0,0:50,74:95,74:25,26:NM_183061.1(SLC9C1) c.472A>G (p.Ile158Val),-:0.3,-:0.286406,- 3 111996708 . C . . NT END=111997575;NT GT ./. 3 111996730 rs9809174 G A 60 nt VT=SNV;PN=A;NN=A;SST=Single;DP=43;DB;DBA=NA;PAF=G/0.6923,A/0.3077,T/.;PC=0.860;Gene=SLC9C1/NM_183061.1/1;CC=c.319-23C>T;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:43:17:0:0:20,23:638,773:60.45,0.00:12.80,0.00:47.65,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.0,15.4:0,0:0,0:117,90:32,42:21,21:NM_183061.1(SLC9C1) c.319-23C>T,-:0.3,-:0.271726,- 3 111997510 rs12632408 T A 53 nt VT=SNV;PN=T;NN=A;SST=Single;DP=32;DB;DBA=NA;PAF=T/0.6889,A/0.3111;PC=0.006;Gene=SLC9C1/NM_183061.1/1;CC=c.318+66A>T;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,T:32:30:0:0:18,14:543,459:53.35,0.00:44.06,0.00:9.29,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:50.1,1.4:0,0:0,0:66,52:84,91:20,28:NM_183061.1(SLC9C1) c.318+66A>T,-:0.3,-:NOT_FOUND,- 3 111997705 . C . . NT END=111999529;NT GT ./. 3 111997791 rs13314977 G A 14 nt VT=SNV;PN=A;NN=A;SST=Single;DP=19;DB;DBA=NA;PAF=G/0.6893,A/0.3107;PC=0.003;Gene=SLC9C1/NM_183061.1/1;CC=c.190-87C>T;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:142:A,G:19:3:0:0:5,14:162,459:13.83,0.00:1.45,0.00:12.38,0.00:0.86,0.00:0.63,0.00:0.99,0.00:60,60:32.4,8.9:0,0:0,0:78,110:72,37:41,28:NM_183061.1(SLC9C1) c.190-87C>T,-:0.3,-:NOT_FOUND,- 3 111997952 rs4478055 A T 10 nt VT=SNV;PN=T;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.3708,T/0.6292;Gene=SLC9C1/NM_183061.1/1;CC=c.190-248T>A;VC=Intron;DM=SLC9C1/Na_H_Exchanger GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:48:A,T:5:0:0:0:2,3:50,100:0.00,9.97:0.00,0.00:0.00,9.97:0.00,0.78:0.00,0.00:0.00,0.78:60,60:0.0,33.3:0,0:0,0:76,111:75,40:69,0:-,NM_183061.1(SLC9C1) c.190-248T>A:-,0.63:-,NOT_FOUND 3 111999631 . C . . NT END=112005550;NT GT ./. 3 111999736 rs199851723 A ACTTGTTTTCT 19 nt VT=INS;SST=Single;DP=25;DB;DBA=NA;PAF=A/0.3704,ACTTGTTTTCT/0.6296;DB;DBA=NA;PAF=NA;NP=1;Gene=SLC9C1/NM_183061.1/1;CC=c.89-107_89-106insAGAAAACAAG;VC=Intron;DM=SLC9C1/Na_H_Exchanger;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,ACTTGTTTTCT:25:2:7:0:18,7:523,224:0.00,19.31:0.00,-0.21:0.00,19.53:0.00,0.96:0.00,0.57:0.00,1.00:60,60:18.7,4.4:0,0:0,0:96,79:55,72:40,4:-,NM_183061.1(SLC9C1) c.89-107_89-106insAGAAAACAAG:-,NOT_FOUND:-,NOT_FOUND 3 112005639 . G . . NT END=112052059;NT GT ./. 3 112052072 . G . . NT END=112052077;NT GT ./. 3 112052173 rs9883527 T C 804 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=226;DB;DBA=NA;PAF=T/0.03494,C/0.9651;Gene=CD200/NM_001004196.2/1;CC=c.12+102T>C;VC=Intron;Gene=CD200/NM_005944.5/0;CC=c.12+102T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C,G:226:139:0:0:225,1:6982,8:804.33,0.03:382.75,0.00:421.58,0.03:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.8,62.0:0,0:0,0:102,23:49,128:29,0:NM_001004196.2(CD200) c.12+102T>C,NM_001004196.2(CD200) c.12+102T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 112052927 rs9868582 G T 264 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=G/0.5755,T/0.4245;PC=0.070;Gene=CD200/NM_001004196.2/1;CC=c.12+856G>T;VC=Intron;Gene=CD200/NM_005944.5/0;CC=c.12+856G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G,T:77:45:0:0:1,76:8,2291:0.00,263.51:0.00,127.29:0.00,136.22:0.00,1.00:0.00,1.00:0.00,1.00:60,60:0.0,44.0:0,0:0,0:150,66:1,83:0,29:NM_001004196.2(CD200) c.12+856G>T,NM_001004196.2(CD200) c.12+856G>T:0.44,0.44:NOT_FOUND,NOT_FOUND 3 112053135 . G . . NT END=112054789;NT GT ./. 3 112054865 . G . . NT END=112059748;NT GT ./. 3 112055023 rs62264124 G A 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=G/0.7145,A/0.2855;PC=0.002;Gene=CD200/NM_001004196.2/1;CC=c.87+159G>A;VC=Intron;Gene=CD200/NM_005944.5/0;CC=c.12+2952G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:51:A,G:6:0:0:0:4,2:120,54:12.25,0.00:0.00,0.00:12.25,0.00:0.93,0.00:0.00,0.00:0.93,0.00:60,60:43.2,38.5:0,0:0,0:100,116:50,35:17,10:NM_001004196.2(CD200) c.87+159G>A,-:0.28,-:NOT_FOUND,- 3 112059768 rs1131199 C G 128 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=C/0.3397,G/0.6603;PC=0.494;Gene=CD200/NM_001004196.2/1;CC=c.107C>G;ProtCh=p.S36C;VC=Missense;Gene=CD200/NM_005944.5/0;CC=c.32C>G;ProtCh=p.S11C;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:30:0:0:33:1121:127.79:86.03:41.76:1.00:1.00:1.00:60:34.9:0:0:70:67:31:NM_001004196.2(CD200) c.107C>G (p.Ser36Cys),NM_001004196.2(CD200) c.107C>G (p.Ser36Cys):0.63,0.63:0.610718,0.610718 3 112059831 . G . . NT END=112063808;NT GT ./. 3 112064136 . G . . NT END=112066381;NT GT ./. 3 112066360 rs7612748 C T 72 nt VT=SNV;PN=A;NN=C;SST=Single;DP=54;DB;DBA=NA;PAF=C/0.8506,T/0.1494;Gene=CD200/NM_001004196.2/1;CC=c.497-45C>T;VC=Intron;Gene=CD200/NM_005944.5/0;CC=c.422-45C>T;VC=Intron;DM=CD200/ig GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:54:48:0:0:28,1,25:893,10,762:0.00,-0.06,72.20:0.00,-0.02,52.69:0.00,-0.04,19.51:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:4.8,160.0,37.6:0,0,0:0,0,0:47,55,61:90,75,82:33,0,28:-,NM_001004196.2(CD200) c.497-45C>T:-,0.17:-,0.245348 3 112066678 . G . . NT END=112068558;NT GT ./. 3 112068817 . A . . NT END=112080389;NT GT ./. 3 112080142 rs2895396 C T 6 nt VT=SNV;PN=C;NN=T;SST=Single;DP=6;DB;DBA=NA;PAF=C/0.6745,T/0.3255;Gene=CD200/NM_001004196.2/1;CC=c.878-248C>T;VC=Intron;Gene=CD200/NM_005944.5/0;CC=c.803-248C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:C,T:6:6:0:0:4,2:130,71:0.00,6.40:0.00,6.40:0.00,0.00:0.00,0.89:0.00,0.89:0.00,0.00:60,60:0.0,35.5:0,0:0,0:6,87:143,63:1,29:-,NM_001004196.2(CD200) c.878-248C>T:-,0.31:-,NOT_FOUND 3 112080398 . A . . NT END=112184954;NT GT ./. 3 112184927 rs2171513 A G 126 nt VT=SNV;PN=A;NN=T;SST=Single;DP=33;DB;DBA=NA;PAF=A/0.3157,G/0.6843;Gene=BTLA/NM_001085357.1/0;CC=c.*28T>C;VC=3UTR;Gene=BTLA/NM_181780.3/1;CC=c.*28T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:89:G:33:30:0:0:33:1099:125.59:90.95:34.64:1.00:1.00:1.00:60:57.3:0:0:40:104:18:NM_181780.3(BTLA) c.*28T>C,NM_181780.3(BTLA) c.*28T>C:0.74,0.74:0.756728,0.756728 3 112185025 rs9288952 G A 206 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=G/0.3554,A/0.6446;Gene=BTLA/NM_001085357.1/0;CC=c.656C>T;ProtCh=p.P219L;VC=Missense;Gene=BTLA/NM_181780.3/1;CC=c.800C>T;ProtCh=p.P267L;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:155:A:55:46:0:0:55:1800:206.17:145.52:60.64:1.00:1.00:1.00:60:50.9:0:0:79:68:35:NM_181780.3(BTLA) c.800C>T (p.Pro267Leu),NM_181780.3(BTLA) c.800C>T (p.Pro267Leu):0.69,0.69:0.733661,0.733661 3 112185231 . C . . NT END=112188604;NT GT ./. 3 112188652 . C . . NT END=112190058;NT GT ./. 3 112190137 rs2931761 G T 187 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.01178,T/0.9882;Gene=BTLA/NM_001085357.1/0;CC=c.404-1486C>A;VC=Intron;Gene=BTLA/NM_181780.3/1;CC=c.469C>A;ProtCh=p.R157S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:130:A,T:50:34:0:0:1,49:9,1638:0.15,186.73:0.00,98.75:0.15,87.98:0.00,1.00:0.00,1.00:0.00,1.00:60,60:117.0,39.7:0,0:0,0:49,75:76,70:0,29:NM_181780.3(BTLA) c.=,NM_181780.3(BTLA) c.=:0.99,0.99:0.99062,0.99062 3 112190203 . C . . NT END=112198301;NT GT ./. 3 112198617 . C . . NT END=112218117;NT GT ./. 3 112218236 . C . . NT END=112251545;NT GT ./. 3 112243924 rs6772077 C T 207 nt VT=SNV;PN=A;NN=G;SST=Single;DP=55;DB;DBA=NA;PAF=C/0.3283,T/0.6717 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:154:T:55:28:0:0:55:1806:206.74:56.67:150.07:1.00:1.00:1.00:60:38.0:0:0:82:51:34:chr3 g.112243923C>T (intergenic),chr3 g.112243923C>T (intergenic):0.69,0.69:NOT_FOUND,NOT_FOUND 3 112253058 rs79378017 C CA 133 idl,rn VT=INS;SST=Single;DP=50;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1824;PC=0.010;Gene=ATG3/NM_001278712.1/0;CC=c.920dupT;ProtCh=p.L307Ffs*12;VC=FrameShiftIns;Gene=ATG3/NM_022488.4/1;CC=c.863+57dupT;VC=Intron;DM=ATG3/Autophagy_C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:56:C,CA:46:34:44:0:6,40:150,1339:0.00,132.93:0.00,76.20:0.00,56.74:0.00,1.00:0.00,1.00:0.00,1.00:60,70:28.5,13.9:0,4:0,0:126,72:22,76:16,38:-,NM_022488.3(ATG3) c.863+57_863+58insT:-,NOT_FOUND:-,NOT_FOUND 3 112253185 . C . . NT END=112255321;NT GT ./. 3 112253193 rs558239878 C CA 61 idl,rn VT=INS;SST=Single;DP=41;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=217;PC=0.946;Gene=ATG3/NM_001278712.1/0;CC=c.795-10dupT;VC=Intron;Gene=ATG3/NM_022488.4/1;CC=c.795-10dupT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:167:A,C,CA,D:38:12:23:3:5,10,20,3:162,310,695,66:13.46,0.00,61.40,4.36:-0.06,0.00,23.21,1.29:13.51,0.00,38.19,3.07:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:0.00,0.00,1.00,0.00:60,60,60,60:78.4,13.6,29.4,130.0:5,0,3,0:0,0,0,0:80,137,100,75:71,10,50,75:43,11,20,11:-,NM_022488.3(ATG3) c.795-10_795-9insT:-,NOT_FOUND:-,NOT_FOUND 3 112255450 . C . . NT END=112256581;NT GT ./. 3 112255710 rs3109033 A G 25 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.01378,G/0.9862;Gene=ATG3/NM_001278712.1/0;CC=c.667-261T>C;VC=Intron;Gene=ATG3/NM_022488.4/1;CC=c.667-261T>C;VC=Intron;DM=ATG3/Autophagy_act_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:G:7:0:0:0:7:220:25.33:0.00:25.33:1.00:0.00:1.00:60:59.0:0:0:99:52:10:NM_022488.3(ATG3) c.667-261T>C,NM_022488.3(ATG3) c.667-261T>C:0.97,0.97:NOT_FOUND,NOT_FOUND 3 112256738 . C . . NT END=112256992;NT GT ./. 3 112257028 . C . . NT END=112260649;NT GT ./. 3 112260732 . C . . NT END=112262903;NT GT ./. 3 112262954 . C . . NT END=112267379;NT GT ./. 3 112267269 rs7625366 T C 40 nt VT=SNV;PN=A;NN=T;SST=Single;DP=11;DB;DBA=NA;PAF=T/0.3279,C/0.6721;PC=0.037;Gene=ATG3/NM_001278712.1/0;CC=c.343+111A>G;VC=Intron;Gene=ATG3/NM_022488.4/1;CC=c.343+111A>G;VC=Intron;DM=ATG3/Autophagy_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:22:C:11:11:0:0:11:345:39.70:39.70:0.00:1.00:1.00:0.00:60:61.1:0:0:75:76:29:NM_022488.3(ATG3) c.343+111A>G,NM_022488.3(ATG3) c.343+111A>G:0.72,0.72:NOT_FOUND,NOT_FOUND 3 112267488 . C . . NT END=112269038;NT GT ./. 3 112267491 . TA T 7 rn VT=DEL;SST=Single;DP=32;NP=5;Gene=ATG3/NM_001278712.1/0;CC=c.236-5delT;VC=Intron;Gene=ATG3/NM_022488.4/1;CC=c.236-5delT;VC=Intron;DM=ATG3/Autophagy_N;RN=8 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:TA,I,T:32:18:1:3:28,1,3:851,32,94:0.00,1.79,6.56:0.00,-0.16,2.31:0.00,1.95,4.25:0.00,0.00,0.41:0.00,0.00,0.73:0.00,0.00,0.82:60,60,60:25.7,0.0,9.7:0,0,0:0,0,0:88,134,124:61,16,27:44,0,1:-,NM_022488.3(ATG3) c.236-5delT:-,NOT_FOUND:-,0.000479 3 112267523 rs9809247 G A 95 nt VT=SNV;PN=C;NN=T;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.3281,A/0.6719;Gene=ATG3/NM_001278712.1/0;CC=c.236-36C>T;VC=Intron;Gene=ATG3/NM_022488.4/1;CC=c.236-36C>T;VC=Intron;DM=ATG3/Autophagy_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:65:A:25:7:0:0:25:828:94.72:15.06:79.66:1.00:1.00:1.00:60:38.1:0:0:99:49:27:NM_022488.3(ATG3) c.236-36C>T,NM_022488.3(ATG3) c.236-36C>T:0.72,0.72:0.726818,0.726818 3 112269110 . C . . NT END=112272126;NT GT ./. 3 112269287 rs2705520 A G 27 nt VT=SNV;PN=C;NN=C;SST=Single;DP=8;DB;DBA=NA;PAF=A/0.02037,G/0.9796;Gene=ATG3/NM_001278712.1/0;CC=c.165-178T>C;VC=Intron;Gene=ATG3/NM_022488.4/1;CC=c.165-178T>C;VC=Intron;DM=ATG3/Autophagy_N;DM=ATG3/Autophagy_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:13:G:8:0:0:0:8:230:26.77:0.00:26.77:1.00:0.00:1.00:60:41.6:0:0:92:59:39:NM_022488.3(ATG3) c.165-178T>C,NM_022488.3(ATG3) c.165-178T>C:0.98,0.98:NOT_FOUND,NOT_FOUND 3 112272177 . C . . NT END=112277222;NT GT ./. 3 112277265 . C . . NT END=112280303;NT GT ./. 3 112280218 rs2279532 G A 112 nt VT=SNV;PN=C;NN=G;SST=Single;DP=29;DB;DBA=NA;PAF=G/0.3355,A/0.6645;Gene=ATG3/NM_001278712.1/0;CC=c.72+86C>T;VC=Intron;Gene=ATG3/NM_022488.4/1;CC=c.72+86C>T;VC=Intron;DM=ATG3/Autophagy_N;DM=ATG3/Autophagy_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:77:A:29:27:0:0:29:981:111.93:96.62:15.31:1.00:1.00:1.00:60:37.8:0:0:51:100:31:NM_022488.3(ATG3) c.72+86C>T,NM_022488.3(ATG3) c.72+86C>T:0.71,0.71:NOT_FOUND,NOT_FOUND 3 112280376 . C . . NT END=112282250;NT GT ./. 3 112282381 . G . . NT END=112288017;NT GT ./. 3 112288117 . G . . NT END=112289386;NT GT ./. 3 112289320 rs9869455 G A 121 nt VT=SNV;PN=T;NN=C;SST=Single;DP=34;DB;DBA=NA;PAF=G/0.3293,A/0.6707;Gene=SLC35A5/NM_017945.3/1;CC=c.230-67G>A;VC=Intron;DM=SLC35A5/Nuc_sug_transp;DM=SLC35A5/Nuc_sug_transp;DM=SLC35A5/Nuc_sug_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:91:A:34:30:0:0:34:1046:120.73:99.52:21.21:1.00:1.00:1.00:60:65.5:0:0:46:104:24:NM_017945.2(SLC35A5) c.230-67G>A,NM_017945.2(SLC35A5) c.230-67G>A:0.71,0.71:NOT_FOUND,NOT_FOUND 3 112289372 rs9869579 G A 164 nt VT=SNV;PN=C;NN=T;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.3295,A/0.6705;Gene=SLC35A5/NM_017945.3/1;CC=c.230-15G>A;VC=Intron;DM=SLC35A5/Nuc_sug_transp;DM=SLC35A5/Nuc_sug_transp;DM=SLC35A5/Nuc_sug_transp GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:127:A:46:41:0:0:46:1425:164.29:119.07:45.22:1.00:1.00:1.00:60:63.5:0:0:67:80:26:NM_017945.2(SLC35A5) c.230-15G>A,NM_017945.2(SLC35A5) c.230-15G>A:0.71,0.71:0.726511,0.726511 3 112289518 . G . . NT END=112292735;NT GT ./. 3 112289576 . AT A 8 rn VT=DEL;SST=Single;DP=38;NP=2;Gene=SLC35A5/NM_017945.3/1;CC=c.360+72delT;VC=Intron;DM=SLC35A5/Nuc_sug_transp;DM=SLC35A5/Nuc_sug_transp;DM=SLC35A5/Nuc_sug_transp;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:32:AT,I,A:38:13:1:4:33,1,4:1036,31,112:0.00,1.62,7.62:0.00,-0.09,3.16:0.00,1.71,4.46:0.00,0.00,0.60:0.00,0.00,0.68:0.00,0.00,0.91:60,60,60:8.8,8.0,7.2:0,0,0:0,0,0:116,69,104:35,81,37:23,0,9:-,NM_017945.2(SLC35A5) c.360+60delT:-,NOT_FOUND:-,NOT_FOUND 3 112292804 . G . . NT END=112299392;NT GT ./. 3 112300174 . G . . NT END=112301517;NT GT ./. 3 112301458 rs5851844 C CCTTAGTAAT 44 sb,nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=C/0.02256,CCTTAGTAAT/0.9774;NP=49;Gene=SLC35A5/NM_017945.3/1;CC=c.1210-57_1210-56insAGTAATCTT;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:9:C,CCTTAGTAAT:14:14:13:0:1,13:23,397:0.00,44.34:0.00,42.47:0.00,1.87:0.00,1.00:0.00,1.00:0.00,0.95:60,60:24.0,12.8:1,0:0,0:12,59:138,92:0,34:NM_017945.2(SLC35A5) c.1210-60_1210-59insCTTAGTAAT,NM_017945.2(SLC35A5) c.1210-60_1210-59insCTTAGTAAT:NOT_FOUND,NOT_FOUND:0.967552,0.967552 3 112301584 . C . . NT END=112324263;NT GT ./. 3 112324611 . C . . NT END=112326022;NT GT ./. 3 112326104 . C . . NT END=112328824;NT GT ./. 3 112328628 rs398106319 G GA 11 rn VT=INS;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.846,GA/0.154,GAA/.;DB;DBA=NA;PAF=G/0.846,GA/0.154;NP=49;Gene=CCDC80/NM_199511.2/0;CC=c.2425+196dupT;VC=Intron;Gene=CCDC80/NM_199512.2/1;CC=c.2425+196dupT;VC=Intron;DM=CCDC80/DUF4174;RN=9 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:120:G,GA:8:8:4:0:4,4:127,116:0.00,11.10:0.00,11.10:0.00,0.00:0.00,0.87:0.00,0.87:0.00,0.00:60,60:4.2,15.8:0,0:0,0:28,46:122,105:14,14:-,NM_199511.1(CCDC80) c.2425+196_2425+197insT:-,NOT_FOUND:-,NOT_FOUND 3 112328929 . C . . NT END=112335556;NT GT ./. 3 112335291 rs2055937 G A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;NP=134;Gene=CCDC80/NM_199511.2/0;CC=c.2321+266C>T;VC=Intron;Gene=CCDC80/NM_199512.2/1;CC=c.2321+266C>T;VC=Intron;DM=CCDC80/DUF4174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:63:A,G:6:6:0:2:4,2:126,66:12.85,0.00:12.85,0.00:0.00,0.00:0.93,0.00:0.93,0.00:0.00,0.00:60,60:52.2,61.0:0,2:0,0:32,9:117,139:17,3:NM_199511.1(CCDC80) c.2321+266C>T,-:NOT_FOUND,-:NOT_FOUND,- 3 112335296 rs59366104 GA G,GAAA 7 idl,nt VT=DEL;SST=Single;DP=7;DB;DBA=NA;PAF=NA;NP=12;DM=CCDC80/DUF4174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 2/1:10:A,GAAA,G:6:7:3:4:2,2,2:53,96,67:5.16,6.46,6.56:5.16,6.46,6.56:0.00,0.00,0.00:0.00,0.00,0.39:0.00,0.00,0.39:0.00,0.00,0.00:60,60,60:51.0,71.5,50.5:1,2,0:0,0,0:62,53,46:87,98,104:61,23,27:NM_199511.1(CCDC80) c.2321+260delT,NM_199511.1(CCDC80) c.2321+260T[3]:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 112335706 . C . . NT END=112337814;NT GT ./. 3 112337952 . C . . NT END=112348959;NT GT ./. 3 112338027 rs13084615 T C 62 nt VT=SNV;PN=T;NN=T;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.2841,C/0.7159;Gene=CCDC80/NM_199511.2/0;CC=c.2036-76A>G;VC=Intron;Gene=CCDC80/NM_199512.2/1;CC=c.2036-76A>G;VC=Intron;DM=CCDC80/DUF4174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:12:0:0:19,20:649,614:62.24,0.00:16.41,0.00:45.83,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.9,2.6:0,0:0,0:108,104:32,46:20,34:NM_199511.1(CCDC80) c.2036-76A>G,-:0.78,-:NOT_FOUND,- 3 112349117 . C . . NT END=112356874;NT GT ./. 3 112356552 rs3842905 G C 24 nt VT=SNV;PN=A;NN=A;SST=Single;DP=7;DB;DBA=NA;PAF=G/0.4483,C/0.5517;PC=0.548;Gene=CCDC80/NM_199511.2/0;CC=c.1878+323C>G;VC=Intron;Gene=CCDC80/NM_199512.2/1;CC=c.1878+323C>G;VC=Intron;DM=CCDC80/DUF4174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:C:7:7:0:0:7:206:23.89:23.89:0.00:1.00:1.00:0.00:60:59.4:0:0:36:114:13:NM_199511.1(CCDC80) c.1878+323C>G,NM_199511.1(CCDC80) c.1878+323C>G:0.56,0.56:NOT_FOUND,NOT_FOUND 3 112356770 rs2279531 T C 232 nt VT=SNV;PN=G;NN=C;SST=Single;DP=60;DB;DBA=NA;PAF=T/0.2883,C/0.7117;Gene=CCDC80/NM_199511.2/0;CC=c.1878+105A>G;VC=Intron;Gene=CCDC80/NM_199512.2/1;CC=c.1878+105A>G;VC=Intron;DM=CCDC80/DUF4174 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:170:C:60:58:0:0:60:2031:231.66:197.80:33.85:1.00:1.00:1.00:60:37.2:0:0:48:102:33:NM_199511.1(CCDC80) c.1878+105A>G,NM_199511.1(CCDC80) c.1878+105A>G:0.71,0.71:NOT_FOUND,NOT_FOUND 3 112358786 . A . . NT END=112538614;NT GT ./. 3 112415652 rs10934180 G C 63 nt VT=SNV;PN=T;NN=A;SST=Single;DP=17;DB;DBA=NA;PAF=G/0.4042,C/0.5958;PC=0.984 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:40:C:17:17:0:0:17:546:62.68:62.68:0.00:1.00:1.00:0.00:60:49.5:0:0:44:106:10:chr3 g.112415651G>C (intergenic),chr3 g.112415651G>C (intergenic):0.64,0.64:NOT_FOUND,NOT_FOUND 3 112538571 rs397733696 CT C 100 rn VT=DEL;SST=Single;DP=54;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=2787;Gene=CD200R1L/NM_001008784.2/0;CC=c.803+47delA;VC=Intron;Gene=CD200R1L/NM_001199215.1/1;CC=c.740+47delA;VC=Intron;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:CT,I,C:54:49:2:31:21,2,31:706,67,1004:0.00,4.45,99.93:0.00,2.15,79.87:0.00,2.30,20.06:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:20.0,4.5,7.6:0,0,0:0,0,0:27,74,31:119,76,114:18,5,20:-,NM_001008784.2(CD200R1L) c.803+47delA:-,NOT_FOUND:-,0.665175 3 112538743 . C . . NT END=112545839;NT GT ./. 3 112546089 . C . . NT END=112546213;NT GT ./. 3 112546473 rs1997281 G A 169 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.7071,A/0.2929;Gene=CD200R1L/NM_001008784.2/0;CC=c.171C>T;ProtCh=p.I57=;VC=Silent;Gene=CD200R1L/NM_001199215.1/1;CC=c.108C>T;ProtCh=p.I36=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:102:47:0:0:54,3,45:1729,35,1410:169.03,0.44,0.00:55.61,-0.21,0.00:113.42,0.65,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:41.1,55.3,4.9:0,0,0:0,0,0:83,87,86:66,63,63:41,63,44:NM_001008784.2(CD200R1L) c.171C>T (p.(=)),-:0.33,-:0.311933,- 3 112546532 . C . . NT END=112548165;NT GT ./. 3 112548232 . C . . NT END=112548406;NT GT ./. 3 112548438 . C . . NT END=112556788;NT GT ./. 3 112548580 rs9288959 A T 39 nt VT=SNV;PN=T;NN=C;SST=Single;DP=13;DB;DBA=NA;PAF=A/0.6999,T/0.3001;Gene=CD200R1L/NM_001008784.2/0;CC=c.47-349T>A;VC=Intron;Gene=CD200R1L/NM_001199215.1/1;CC=c.-17-349T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:40:A,T:13:0:0:0:2,11:63,357:0.00,38.52:0.00,0.00:0.00,38.52:0.00,1.00:0.00,0.00:0.00,1.00:60,60:7.5,32.6:0,0:0,0:136,102:14,49:6,17:-,NM_001008784.2(CD200R1L) c.47-349T>A:-,0.34:-,NOT_FOUND 3 112556858 . C . . NT END=112564525;NT GT ./. 3 112564572 . C . . NT END=112642536;NT GT ./. 3 112564801 rs6766388 T A 6 nt VT=SNV;PN=G;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.3027,A/0.6973;PC=0.025 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:67:A,T:5:0:0:0:2,3:69,101:6.39,0.00:0.00,0.00:6.39,0.00:0.46,0.00:0.00,0.00:0.46,0.00:60,60:34.5,0.7:0,0:0,0:127,98:24,53:12,9:NM_001008784.2(CD200R1L) c.-226-u4A>T,-:0.68,-:NOT_FOUND,- 3 112642568 rs9865242 C G 46 PASS VT=SNV;PN=T;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.3488,G/0.6512;Gene=CD200R1/NM_138806.3/1;CC=c.1003G>C;ProtCh=p.E335Q;VC=Missense;Gene=CD200R1/NM_170780.2/0;CC=c.934G>C;ProtCh=p.E312Q;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:22:11:0:0:9,13:307,460:0.00,45.74:0.00,14.08:0.00,31.66:0.00,1.00:0.00,1.00:0.00,1.00:60,60:20.8,36.2:0,0:0,0:65,60:58,89:32,35:-,NM_138806.3(CD200R1) c.1003G>C (p.Glu335Gln):-,0.63:-,0.583961 3 112642647 . C . . NT END=112643336;NT GT ./. 3 112643383 . c . . NT END=112643931;NT GT ./. 3 112643560 rs9870568 C A 22 nt VT=SNV;PN=A;NN=T;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.349,A/0.651;Gene=CD200R1/NM_138806.3/1;CC=c.879-178G>T;VC=Intron;Gene=CD200R1/NM_170780.2/0;CC=c.810-178G>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:13:A,C:7:1:0:0:6,1:199,25:21.52,0.00:3.71,0.00:17.81,0.00:1.00,0.00:0.90,0.00:1.00,0.00:60,60:33.2,53.0:0,0:0,0:105,65:45,86:10,0:NM_138806.3(CD200R1) c.879-178G>T,-:0.63,-:NOT_FOUND,- 3 112644041 . C . . NT END=112647662;NT GT ./. 3 112647613 rs1466872 T C 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=T/0.3211,C/0.6789;PC=0.001;Gene=CD200R1/NM_138806.3/1;CC=c.769+50A>G;VC=Intron;Gene=CD200R1/NM_170780.2/0;CC=c.700+50A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:36:36:0:0:17,19:515,587:48.80,0.00:44.25,0.00:4.55,0.00:1.00,0.00:1.00,0.00:0.95,0.00:60,60:39.4,15.2:0,0:0,0:51,37:100,109:27,14:NM_138806.3(CD200R1) c.769+50A>G,-:0.65,-:0.615936,- 3 112647832 rs9826308 A C 202 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=133;DB;DBA=NA;PAF=A/0.3484,C/0.6516;PC=0.179;Gene=CD200R1/NM_138806.3/1;CC=c.600T>G;ProtCh=p.H200Q;VC=Missense;Gene=CD200R1/NM_170780.2/0;CC=c.531T>G;ProtCh=p.H177Q;VC=Missense;Gene=CD200R1/NM_138939.2/0;CC=c.*158T>G;VC=3UTR;Gene=CD200R1/NM_138940.2/0;CC=c.*158T>G;VC=3UTR;DM=CD200R1/C2-set_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:133:87:0:0:69,64:2224,2111:0.00,201.54:0.00,92.06:0.00,109.48:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.6,43.2:0,0:0,0:75,67:76,83:37,39:-,NM_138806.3(CD200R1) c.600T>G (p.His200Gln):-,0.63:-,0.583807 3 112647988 rs9868053 C T 179 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=125;DB;DBA=NA;PAF=C/0.3486,A/.,T/0.6514;Gene=CD200R1/NM_138806.3/1;CC=c.520+49G>A;VC=Intron;Gene=CD200R1/NM_170780.2/0;CC=c.451+49G>A;VC=Intron;Gene=CD200R1/NM_138939.2/0;CC=c.*2G>A;VC=3UTR;Gene=CD200R1/NM_138940.2/0;CC=c.*2G>A;VC=3UTR;DM=CD200R1/C2-set_2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G,T:125:82:0:0:70,1,54:2088,11,1895:0.00,-0.14,178.51:0.00,-0.11,112.37:0.00,-0.03,66.14:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,56,60:4.4,115.0,39.8:0,0,0:0,0,0:69,47,76:72,103,69:41,0,30:-,NM_138806.3(CD200R1) c.520+49G>A:-,0.63:-,0.583577 3 112648125 rs6438117 G T 186 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=118;DB;DBA=NA;PAF=G/0.3486,A/.,T/0.6514;PC=0.419;Gene=CD200R1/NM_138806.3/1;CC=c.432C>A;ProtCh=p.T144=;VC=Silent;Gene=CD200R1/NM_170780.2/0;CC=c.363C>A;ProtCh=p.T121=;VC=Silent;Gene=CD200R1/NM_138939.2/0;CC=c.432C>A;ProtCh=p.T144=;VC=Silent;Gene=CD200R1/NM_138940.2/0;CC=c.363C>A;ProtCh=p.T121=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T:118:73:0:0:60,58:1828,1934:0.00,185.56:0.00,80.26:0.00,105.30:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.4,81.1:0,0:0,0:61,72:89,77:39,25:-,NM_138806.3(CD200R1) c.432C>A (p.(=)):-,0.62:-,0.30163 3 112648127 rs4596117 T G 178 PASS VT=SNV;PN=G;NN=A;SST=Single;DP=117;DB;DBA=NA;PAF=T/0.3486,G/0.6514;PC=0.265;Gene=CD200R1/NM_138806.3/1;CC=c.430A>C;ProtCh=p.T144P;VC=Missense;Gene=CD200R1/NM_170780.2/0;CC=c.361A>C;ProtCh=p.T121P;VC=Missense;Gene=CD200R1/NM_138939.2/0;CC=c.430A>C;ProtCh=p.T144P;VC=Missense;Gene=CD200R1/NM_138940.2/0;CC=c.361A>C;ProtCh=p.T121P;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:117:72:0:0:58,59:1856,1772:178.04,0.00:75.42,0.00:102.62,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:83.6,11.8:0,0:0,0:63,67:86,78:25,40:NM_138806.3(CD200R1) c.430A>C (p.Thr144Pro),-:0.63,-:0.281101,- 3 112648222 rs2171509 T C 148 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=104;DB;DBA=NA;PAF=T/0.3486,C/0.6514;Gene=CD200R1/NM_138806.3/1;CC=c.335A>G;ProtCh=p.K112R;VC=Missense;Gene=CD200R1/NM_170780.2/0;CC=c.266A>G;ProtCh=p.K89R;VC=Missense;Gene=CD200R1/NM_138939.2/0;CC=c.335A>G;ProtCh=p.K112R;VC=Missense;Gene=CD200R1/NM_138940.2/0;CC=c.266A>G;ProtCh=p.K89R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G,T:104:54:0:0:48,1,55:1562,7,1756:148.20,-0.19,0.00:58.29,-0.04,0.00:89.91,-0.15,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,53,60:63.4,74.0,4.7:0,0,0:0,0,0:88,108,79:55,43,72:35,0,34:NM_138806.3(CD200R1) c.335A>G (p.Lys112Arg),-:0.63,-:0.583269,- 3 112648355 . C . . NT END=112649952;NT GT ./. 3 112650019 . C . . NT END=112666702;NT GT ./. 3 112666772 . C . . NT END=112693637;NT GT ./. 3 112666859 rs2133946 C T 11 nt VT=SNV;PN=T;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=C/0.773,T/0.227;PC=0.002;Gene=CD200R1/NM_138806.3/1;CC=c.68-88G>A;VC=Intron;Gene=CD200R1/NM_170780.2/0;CC=c.68-16841G>A;VC=Intron;Gene=CD200R1/NM_138939.2/0;CC=c.68-88G>A;VC=Intron;Gene=CD200R1/NM_138940.2/0;CC=c.68-16841G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:C,T:10:2:0:0:5,5:135,119:0.00,11.22:0.00,-0.45:0.00,11.68:0.00,0.95:0.00,0.79:0.00,1.00:60,60:5.0,108.0:0,0:0,0:109,120:41,31:24,5:-,NM_138806.3(CD200R1) c.68-88G>A:-,0.26:-,NOT_FOUND 3 112693718 . T . . NT END=112709846;NT GT ./. 3 112709828 rs2272393 C G 182 nt VT=SNV;PN=C;NN=G;SST=Single;DP=148;DB;DBA=NA;PAF=C/0.5274,G/0.4726;PC=0.011;Gene=GTPBP8/NM_014170.2/1;CC=c.-19C>G;VC=5UTR;Gene=GTPBP8/NM_138485.1/0;CC=c.-19C>G;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:148:131:0:0:82,66:2548,1950:0.00,182.05:0.00,133.10:0.00,48.95:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.3,40.0:0,0:0,0:60,51:87,93:25,28:-,NM_014170.2(GTPBP8) c.-19C>G:-,0.5:-,0.5863 3 112710183 . G . . NT END=112711872;NT GT ./. 3 112711972 . G . . NT END=112713981;NT GT ./. 3 112712192 rs5851868 GTCTT G 7 nt VT=DEL;SST=Single;DP=4;DB;DBA=NA;PAF=GTCTT/0.5274,G/0.4726;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=GTCTT/0.5274,G/0.4726;NP=224;Gene=GTPBP8/NM_014170.2/1;CC=c.435+227_435+230delCTTT;VC=Intron;Gene=GTPBP8/NM_138485.1/0;CC=c.337-1784_337-1781delCTTT;VC=Intron;DM=GTPBP8/MMR_HSR1;DM=GTPBP8/MMR_HSR1;RN=2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:64:GTCTT,G:4:0:0:2:2,2:67,68:0.00,6.55:0.00,0.00:0.00,6.55:0.00,0.51:0.00,0.00:0.00,0.51:60,60:0.0,0.0:0,0:0,0:136,55:11,94:2,3:-,NM_014170.2(GTPBP8) c.435+222_435+225delTCTT:-,0.5:-,NOT_FOUND 3 112714113 . G . . NT END=112715738;NT GT ./. 3 112715839 . G . . NT END=112718292;NT GT ./. 3 112718412 . G . . NT END=112719696;NT GT ./. 3 112719767 . T . . NT END=112724382;NT GT ./. 3 112719791 rs34779191 C A 9 sb;idl,nt VT=SNV;PN=T;NN=A;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.008;Gene=GTPBP8/NM_014170.2/1;CC=c.*25C>A;VC=3UTR;Gene=GTPBP8/NM_138485.1/0;CC=c.*25C>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:92:A,C,I,D:28:13:2:3:7,18,2,1:120,476,45,85:8.88,0.00,2.59,1.44:-1.09,0.00,-0.29,0.66:9.97,0.00,2.87,0.78:0.95,0.00,0.00,0.00:0.94,0.00,0.00,0.00:0.99,0.00,0.00,0.00:60,60,60,60:72.1,11.1,72.0,75.0:1,0,0,2:0,0,0,0:46,118,96,88:104,28,40,63:32,14,23,25:NM_014170.2(GTPBP8) c.*25C>A,-:NOT_FOUND,-:NOT_FOUND,- 3 112724852 . C . . NT END=112727017;NT GT ./. 3 112727184 rs2306857 A T 71 PASS VT=SNV;PN=A;NN=A;SST=Single;DP=56;DB;DBA=NA;PAF=A/0.5038,T/0.4962;PC=0.090;Gene=C3orf17/NM_015412.3/1;CC=c.1069T>A;ProtCh=p.F357I;VC=Missense;Gene=C3orf17/NR_027794.1/0;VC=NonCoding;Gene=C3orf17/NR_027796.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:56:24:0:0:32,1,23:1041,12,763:0.00,-0.00,71.03:0.00,-0.08,15.04:0.00,0.08,55.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,6,60:7.3,191.0,35.7:0,0,0:0,0,0:80,69,94:66,49,57:24,0,23:-,NM_015412.3(C3orf17) c.1069T>A (p.Phe357Ile):-,0.53:-,0.613409 3 112727278 . C . . NT END=112729489;NT GT ./. 3 112729552 . C . . NT END=112729891;NT GT ./. 3 112729768 rs2293562 A T 20 nt VT=SNV;PN=G;NN=G;SST=Single;DP=17;DB;DBA=NA;PAF=A/0.5228,T/0.4772;Gene=C3orf17/NM_015412.3/1;CC=c.913+124T>A;VC=Intron;Gene=C3orf17/NR_027794.1/0;VC=NonCoding;Gene=C3orf17/NR_027796.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:17:16:0:0:10,7:285,213:0.00,19.66:0.00,18.09:0.00,1.57:0.00,0.98:0.00,1.00:0.00,0.71:60,60:28.4,36.9:0,0:0,0:37,23:114,128:16,16:-,NM_015412.3(C3orf17) c.913+124T>A:-,0.5:-,NOT_FOUND 3 112730254 . C . . NT END=112731580;NT GT ./. 3 112731659 . C . . NT END=112732118;NT GT ./. 3 112731845 rs2276769 A G 26 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.1865,G/0.8135;PC=0.079;Gene=C3orf17/NM_015412.3/1;CC=c.474-187T>C;VC=Intron;Gene=C3orf17/NR_027794.1/0;VC=NonCoding;Gene=C3orf17/NR_027796.1/0;VC=NonCoding;DM=C3orf17/DUF4477 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:54:A,G:10:0:0:0:2,8:68,245:0.00,26.12:0.00,0.00:0.00,26.12:0.00,1.00:0.00,0.00:0.00,1.00:60,60:11.5,79.8:0,0:0,0:102,118:49,32:2,16:-,NM_015412.3(C3orf17) c.474-187T>C:-,0.8:-,NOT_FOUND 3 112732251 . C . . NT END=112732795;NT GT ./. 3 112732309 rs5851869 GT G 30 sb;idl,rn VT=DEL;SST=Single;DP=45;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=243;PC=0.003;Gene=C3orf17/NM_015412.3/1;CC=c.342-60delA;VC=Intron;Gene=C3orf17/NR_027794.1/0;VC=NonCoding;Gene=C3orf17/NR_027796.1/0;VC=NonCoding;DM=C3orf17/DUF4477;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,GT,T,I,G:41:11:2:15:1,1,23,3,2,11:11,14,733,79,60,473:0.02,0.19,0.00,5.25,3.80,29.72:-0.03,0.38,0.00,-0.11,2.92,0.76:0.05,-0.19,0.00,5.36,0.88,28.97:0.00,0.00,0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.00,0.00,0.92:0.00,0.00,0.00,0.00,0.00,1.00:60,60,60,60,60,60:152.0,14.0,28.6,67.3,40.5,24.2:0,0,0,0,0,4:0,0,0,0,0,0:0,121,110,106,78,95:151,16,33,45,51,56:0,0,35,29,5,28:-,NM_015412.3(C3orf17) c.342-60delA:-,NOT_FOUND:-,NOT_FOUND 3 112732880 . C . . NT END=112736294;NT GT ./. 3 112736450 . C . . NT END=112738388;NT GT ./. 3 112738318 rs2293560 C T 36 nt VT=SNV;PN=C;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=C/0.399,T/0.601;PC=0.014;Gene=C3orf17/NM_015412.3/1;CC=c.106+71G>A;VC=Intron;Gene=C3orf17/NR_027794.1/0;VC=NonCoding;Gene=C3orf17/NR_027796.1/0;VC=NonCoding;DM=C3orf17/DUF4477;DM=C3orf17/DUF4477;DM=C3orf17/DUF4477;DM=C3orf17/DUF4477;DM=C3orf17/DUF4477 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:22:20:0:0:10,12:334,369:0.00,36.04:0.00,31.57:0.00,4.46:0.00,1.00:0.00,1.00:0.00,0.99:60,60:8.3,51.2:0,0:0,0:27,27:120,124:15,23:-,NM_015412.3(C3orf17) c.106+71G>A:-,0.59:-,NOT_FOUND 3 112738495 . G . . NT END=112968649;NT GT ./. 3 112738625 rs7633507 C T 31 nt VT=SNV;PN=G;NN=G;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.4012,T/0.5988 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:0:0:0:9,10:260,321:0.00,31.16:0.00,0.00:0.00,31.16:0.00,1.00:0.00,0.00:0.00,1.00:60,60:21.8,83.9:0,0:0,0:99,99:43,26:39,17:-,NM_015412.3(C3orf17) c.-61-u70G>A:-,0.6:-,NOT_FOUND 3 112806623 rs58011197 A AGT 9 rn VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=1;NP=12;NP=15;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:98:A,AGT:6:6:3:0:3,3:104,96:0.00,9.22:0.00,7.79:0.00,1.44:0.00,0.73:0.00,0.73:0.00,0.89:60,60:14.0,30.3:0,0:0,0:79,39:67,107:27,4:-,chr3 g.112806623_112806624insGT (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 112806709 rs11926404 A G 14 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.3474,G/0.6526;PC=0.004 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:G:4:3:0:0:4:123:14.21:6.85:7.35:1.00:1.00:1.00:60:30.8:0:0:115:33:11:chr3 g.112806708A>G (intergenic),chr3 g.112806708A>G (intergenic):0.64,0.64:NOT_FOUND,NOT_FOUND 3 112827646 rs375703189 AACACACACAC A 6 nt VT=DEL;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=15;PC=0.021;RN=3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:63:AACACACACAC,A:4:5:0:3:2,2:67,100:0.00,6.31:0.00,3.16:0.00,3.16:0.00,0.46:0.00,0.46:0.00,0.87:60,60:0.0,0.0:0,1:0,0:65,78:41,69:32,3:-,chr3 g.112827647_112827656delACACACACAC (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 112840075 . GCA G 10 rn VT=DEL;SST=Single;DP=4;NP=8;RN=21 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:23:GCA,G:4:4:0:3:1,3:29,99:0.00,10.35:0.00,8.48:0.00,1.88:0.00,0.85:0.00,0.85:0.00,0.83:60,60:59.0,21.7:0,0:0,0:28,60:83,91:0,14:-,chr3 g.112840076_112840077delCA (intergenic):-,NOT_FOUND:-,NOT_FOUND 3 112846140 rs2613957 C T 15 nt VT=SNV;PN=G;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.4621,T/0.5379 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:T:4:3:0:0:4:131:15.01:5.62:9.39:1.00:1.00:1.00:60:78.5:0:0:96:54:27:chr3 g.112846139C>T (intergenic),chr3 g.112846139C>T (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 3 112846144 rs2700214 G A 13 nt VT=SNV;PN=T;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.4621,A/0.5379 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:2:0:0:4:113:13.20:3.58:9.62:1.00:1.00:1.00:60:73.8:0:0:100:50:27:chr3 g.112846143G>A (intergenic),chr3 g.112846143G>A (intergenic):0.55,0.55:NOT_FOUND,NOT_FOUND 3 112857592 rs73223909 C A 26 nt VT=SNV;PN=T;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=C/0.9079,A/0.09205;PC=0.001 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:A:7:6:0:0:7:230:26.34:15.01:11.33:1.00:1.00:1.00:60:43.4:0:0:24:107:9:chr3 g.112857591C>A (intergenic),chr3 g.112857591C>A (intergenic):0.11,0.11:NOT_FOUND,NOT_FOUND 3 112968747 . G . . NT END=112969401;NT GT ./. 3 112969270 rs4682131 A G 64 nt VT=SNV;PN=C;NN=G;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.7214,G/0.2786;Gene=BOC/NM_001301867.1/0;CC=c.98-132A>G;VC=Intron;Gene=BOC/NM_033254.3/0;CC=c.98-132A>G;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.98-132A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:42:41:0:0:19,23:598,654:0.00,63.75:0.00,60.24:0.00,3.52:0.00,1.00:0.00,1.00:0.00,0.70:60,60:10.4,38.7:0,0:0,0:49,46:100,105:27,40:-,NM_033254.2(BOC) c.98-132A>G:-,0.27:-,NOT_FOUND 3 112969681 . G . . NT END=112987145;NT GT ./. 3 112987293 . G . . NT END=112989647;NT GT ./. 3 112989792 . G . . NT END=112991256;NT GT ./. 3 112991117 rs12631733 C T 56 nt VT=SNV;PN=A;NN=G;SST=Single;DP=32;DB;DBA=NA;PAF=C/0.7143,T/0.2857;Gene=BOC/NM_033254.3/0;CC=c.668-140C>T;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.668-140C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:32:32:0:0:14,18:443,569:0.00,55.92:0.00,55.92:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:37.9,61.9:0,0:0,0:27,55:123,96:7,31:-,NM_033254.2(BOC) c.668-140C>T:-,0.28:-,NOT_FOUND 3 112991196 rs3930154 C G 305 nt VT=SNV;PN=G;NN=A;SST=Single;DP=82;DB;DBA=NA;PAF=C/0.4712,G/0.5288;PC=0.007;Gene=BOC/NM_033254.3/0;CC=c.668-61C>G;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.668-61C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:82:77:0:0:82:2662:305.25:230.42:74.83:1.00:1.00:1.00:60:45.4:0:0:35:114:19:NM_033254.2(BOC) c.668-61C>G,NM_033254.2(BOC) c.668-61C>G:0.52,0.52:NOT_FOUND,NOT_FOUND 3 112991312 rs3814398 C T 232 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=161;DB;DBA=NA;PAF=C/0.7232,T/0.2768;PC=0.008;Gene=BOC/NM_033254.3/0;CC=c.723C>T;ProtCh=p.I241=;VC=Silent;Gene=BOC/NM_001301861.1/1;CC=c.723C>T;ProtCh=p.I241=;VC=Silent;DM=BOC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:161:117:0:0:84,77:2731,2437:0.00,231.97:0.00,119.61:0.00,112.35:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.9,51.1:0,0:0,0:82,80:63,69:41,34:-,NM_033254.2(BOC) c.723C>T (p.(=)):-,0.27:-,0.171767 3 112991551 . G . . NT END=112991915;NT GT ./. 3 112991842 rs11717833 A G 71 nt VT=SNV;PN=T;NN=C;SST=Single;DP=45;DB;DBA=NA;PAF=A/0.7013,G/0.2987;Gene=BOC/NM_033254.3/0;CC=c.962-74A>G;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.962-74A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:45:40:0:0:22,23:662,737:0.00,71.13:0.00,56.49:0.00,14.64:0.00,1.00:0.00,1.00:0.00,1.00:60,60:2.5,62.6:0,0:0,0:30,42:109,102:23,16:-,NM_033254.2(BOC) c.962-74A>G:-,0.28:-,NOT_FOUND 3 112991959 rs11710894 C T 175 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=97;DB;DBA=NA;PAF=C/0.7013,G/.,T/0.2987;Gene=BOC/NM_033254.3/0;CC=c.1005C>T;ProtCh=p.P335=;VC=Silent;Gene=BOC/NM_001301861.1/1;CC=c.1005C>T;ProtCh=p.P335=;VC=Silent;DM=BOC/I-set GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:97:80:0:0:1,43,53:8,1424,1785:-0.13,0.00,175.08:-0.07,0.00,116.96:-0.05,0.00,58.12:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:69.0,8.0,43.9:0,0,0:0,0,0:75,58,53:76,91,91:0,42,28:-,NM_033254.2(BOC) c.1005C>T (p.(=)):-,0.28:-,0.189451 3 112992189 . G . . NT END=112993221;NT GT ./. 3 112993530 . G . . NT END=112996941;NT GT ./. 3 112997105 . G . . NT END=112997519;NT GT ./. 3 112997554 rs775228 A G 123 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.3796,G/0.6204;PC=1.000;Gene=BOC/NM_033254.3/0;CC=c.1737A>G;ProtCh=p.K579=;VC=Silent;Gene=BOC/NM_001301861.1/1;CC=c.1740A>G;ProtCh=p.K580=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:101:80:0:0:60,41:2046,1333:0.00,123.20:0.00,66.91:0.00,56.28:0.00,1.00:0.00,1.00:0.00,1.00:60,60:3.3,45.7:0,0:0,0:52,68:81,66:22,36:-,NM_033254.2(BOC) c.1737A>G (p.(=)):-,0.6:-,0.547597 3 112997631 . G . . NT END=112998095;NT GT ./. 3 112997725 rs13066489 T G 54 sb,nt VT=SNV;PN=G;NN=C;SST=Single;DP=31;DB;DBA=NA;PAF=T/0.9295,G/0.07049;Gene=BOC/NM_033254.3/0;CC=c.1813+95T>G;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.1816+95T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:31:3:0:0:17,14:551,458:53.91,0.00:-0.52,0.00:54.43,0.00:1.00,0.00:0.92,0.00:1.00,0.00:60,60:40.4,4.0:0,0:0,0:80,119:71,32:32,9:NM_033254.2(BOC) c.1813+95T>G,-:0.08,-:NOT_FOUND,- 3 112998090 rs3856720 T C 65 nt VT=SNV;PN=T;NN=C;SST=Single;DP=47;DB;DBA=NA;PAF=T/0.7378,C/0.2622;Gene=BOC/NM_033254.3/0;CC=c.1814-6T>C;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.1817-6T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:47:42:0:0:21,26:688,847:64.78,0.00:51.21,0.00:13.57,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:46.1,6.3:0,0:0,0:79,46:71,103:39,28:NM_033254.2(BOC) c.1814-6T>C,-:0.25,-:0.151392,- 3 112998265 rs2649878 A G 117 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=94;DB;DBA=NA;PAF=A/0.4413,G/0.5587;PC=0.040;Gene=BOC/NM_033254.3/0;CC=c.1983A>G;ProtCh=p.P661=;VC=Silent;Gene=BOC/NM_001301861.1/1;CC=c.1986A>G;ProtCh=p.P662=;VC=Silent;DM=BOC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:94:63:0:0:55,39:1761,1257:0.00,116.64:0.00,54.58:0.00,62.06:0.00,1.00:0.00,1.00:0.00,1.00:60,60:5.1,37.3:0,0:0,0:88,92:57,50:28,29:-,NM_033254.2(BOC) c.1983A>G (p.(=)):-,0.53:-,0.46171 3 112998303 . G . . NT END=112998670;NT GT ./. 3 112998853 . G . . NT END=112999404;NT GT ./. 3 112999511 . G . . NT END=112999877;NT GT ./. 3 112999611 rs775229 A G 12 nt VT=SNV;PN=C;NN=T;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.3818,G/0.6182;PC=0.001;Gene=BOC/NM_033254.3/0;CC=c.2308+101A>G;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.2311+101A>G;VC=Intron;DM=BOC/fn3 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:125:A,G:10:6:0:0:5,5:121,123:0.00,11.66:0.00,7.54:0.00,4.11:0.00,0.95:0.00,0.73:0.00,0.51:60,60:21.4,26.8:0,0:0,0:102,97:49,54:31,21:-,NM_033254.2(BOC) c.2308+101A>G:-,0.6:-,NOT_FOUND 3 113000001 . G . . NT END=113002257;NT GT ./. 3 113002480 . G . . NT END=113003181;NT GT ./. 3 113003415 . G . . NT END=113003628;NT GT ./. 3 113003595 rs775222 G C 65 nt VT=SNV;PN=G;NN=C;SST=Single;DP=46;DB;DBA=NA;PAF=G/0.735,C/0.265;PC=0.001;Gene=BOC/NM_033254.3/0;CC=c.2887-34G>C;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.2890-34G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:46:34:0:0:21,25:685,748:64.73,0.00:45.03,0.00:19.70,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:48.1,8.0:0,0:0,0:74,49:76,101:30,34:NM_033254.2(BOC) c.2887-34G>C,-:0.25,-:0.157773,- 3 113003706 . G . . NT END=113004218;NT GT ./. 3 113003924 rs16860787 G A 21 nt VT=SNV;PN=C;NN=G;SST=Single;DP=10;DB;DBA=NA;PAF=G/0.7374,A/0.2626;Gene=BOC/NM_033254.3/0;CC=c.2963+219G>A;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.2966+219G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:88:A,G:10:3:0:0:7,3:202,95:20.85,0.00:5.32,0.00:15.53,0.00:1.00,0.00:0.97,0.00:1.00,0.00:60,60:48.1,0.0:0,0:0,0:88,131:63,20:23,6:NM_033254.2(BOC) c.2963+219G>A,-:0.25,-:NOT_FOUND,- 3 113004093 rs41271357 G A 32 nt VT=SNV;PN=A;NN=T;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.6747,A/0.3253;PC=0.071;Gene=BOC/NM_033254.3/0;CC=c.2964-126G>A;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.2967-126G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:11,11:334,360:32.00,0.00:32.00,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:35.4,37.7:0,0:0,0:75,84:76,66:61,40:NM_033254.2(BOC) c.2964-126G>A,-:0.31,-:NOT_FOUND,- 3 113004123 rs13084974 C G 53 nt VT=SNV;PN=T;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=C/0.9593,G/0.04073;PC=0.001;Gene=BOC/NM_033254.3/0;CC=c.2964-96C>G;VC=Intron;Gene=BOC/NM_001301861.1/1;CC=c.2967-96C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:38:36:0:0:20,18:659,560:0.00,53.13:0.00,47.16:0.00,5.97:0.00,1.00:0.00,1.00:0.00,0.92:60,60:17.6,41.9:0,0:0,0:28,24:122,127:22,14:-,NM_033254.2(BOC) c.2964-96C>G:-,0.05:-,NOT_FOUND 3 113004413 . G . . NT END=113005521;NT GT ./. 3 113005710 . G . . NT END=113010403;NT GT ./. 3 113005743 rs146459508 G GT 28 idl,rn VT=INS;SST=Single;DP=39;DB;DBA=NA;PAF=G/0.7456,GT/0.2544,GTT/.,GTTT/.;NP=1;NP=354;Gene=BOC/NM_033254.3/0;CC=c.*44_*45insT;VC=3UTR;Gene=BOC/NM_001301861.1/1;CC=c.*44_*45insT;VC=3UTR;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:G,T,GT:36:15:14:0:24,1,11:761,12,407:0.00,0.06,27.66:0.00,-0.10,3.25:0.00,0.16,24.41:0.00,0.00,1.00:0.00,0.00,0.98:0.00,0.00,1.00:60,60,70:17.2,31.0,74.5:0,0,3:0,0,0:113,3,111:30,147,39:13,0,14:-,NM_033254.2(BOC) c.*44dupT:-,NOT_FOUND:-,NOT_FOUND 3 113005754 rs5022662 A T 34 nt VT=SNV;PN=T;NN=A;SST=Single;DP=42;DB;DBA=NA;PAF=A/0.5361,T/0.4639;PC=0.017;Gene=BOC/NM_033254.3/0;CC=c.*45A>T;VC=3UTR;Gene=BOC/NM_001301861.1/1;CC=c.*45A>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:42:13:0:0:28,14:805,386:0.00,33.67:0.00,2.03:0.00,31.64:0.00,1.00:0.00,0.99:0.00,1.00:60,70:22.7,65.6:0,0:0,0:118,118:26,32:17,20:-,NM_033254.2(BOC) c.*45A>T:-,0.33:-,0.061454 3 113010303 rs17321330 G A 50 nt VT=SNV;PN=C;NN=A;SST=Single;DP=36;DB;DBA=NA;PAF=G/0.6302,A/0.3698;Gene=CFAP44/NM_001164496.1/1;CC=c.*101C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:36:36:0:0:16,20:532,573:50.14,0.00:50.14,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:42.0,5.5:0,0:0,0:33,66:118,84:18,38:NM_001164496.1(WDR52) c.*101C>T,-:0.39,-:NOT_FOUND,- 3 113010466 rs2291905 T C 211 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=163;DB;DBA=NA;PAF=T/0.225,C/0.775;PC=0.737;Gene=CFAP44/NM_001164496.1/1;CC=c.5503A>G;ProtCh=p.S1835G;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:163:128:0:0:72,91:2251,2956:210.85,0.00:149.60,0.00:61.25,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,3.7:0,0:0,0:60,61:91,85:35,29:NM_001164496.1(WDR52) c.5503A>G (p.Ser1835Gly),-:0.78,-:NOT_FOUND,- 3 113010596 . C . . NT END=113013533;NT GT ./. 3 113013191 rs775218 T A 10 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.0605,A/0.9395;PC=0.015;Gene=CFAP44/NM_001164496.1/1;CC=c.5373+343A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:3:A:4:4:0:0:4:81:9.88:9.88:0.00:1.00:1.00:0.00:60:54.8:0:0:19:131:8:NM_001164496.1(WDR52) c.5373+343A>T,NM_001164496.1(WDR52) c.5373+343A>T:0.93,0.93:NOT_FOUND,NOT_FOUND 3 113013669 . C . . NT END=113015571;NT GT ./. 3 113013848 rs397756654 A AT 15 nt VT=INS;SST=Single;DP=14;DB;DBA=NA;PAF=A/0.3089,AT/0.6911;DB;DBA=NA;PAF=A/0.3089,AT/0.6911;NP=630;Gene=CFAP44/NM_001164496.1/1;CC=c.5239-181dupA;VC=Intron;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:168:A,AT:14:0:6:0:8,6:259,166:0.00,15.30:0.00,0.00:0.00,15.30:0.00,0.96:0.00,0.00:0.00,0.96:60,70:15.9,56.8:0,0:0,0:104,99:47,50:35,44:-,NM_001164496.1(WDR52) c.5239-181_5239-180insA:-,0.71:-,NOT_FOUND 3 113015436 rs808949 G C 30 nt VT=SNV;PN=A;NN=A;SST=Single;DP=26;DB;DBA=NA;PAF=G/0.3087,C/0.6913;Gene=CFAP44/NM_001164496.1/1;CC=c.5238+136C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:26:26:0:0:11,15:328,526:30.31,0.00:30.31,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:57.5,37.0:0,0:0,0:65,35:86,111:29,26:NM_001164496.1(WDR52) c.5238+136C>G,-:0.71,-:NOT_FOUND,- 3 113015464 rs3829889 G A 55 nt VT=SNV;PN=C;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=G/0.8339,A/0.1661;Gene=CFAP44/NM_001164496.1/1;CC=c.5238+108C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:37:37:0:0:17,20:579,583:54.97,0.00:55.10,0.00:-0.13,0.00:1.00,0.00:1.00,0.00:0.64,0.00:60,60:36.6,47.5:0,0:0,0:63,28:83,122:27,21:NM_001164496.1(WDR52) c.5238+108C>T,-:0.16,-:NOT_FOUND,- 3 113015553 rs808950 A C 93 nt VT=SNV;PN=A;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=A/0.2746,C/0.7254;Gene=CFAP44/NM_001164496.1/1;CC=c.5238+19T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:70:61:0:0:38,32:1205,988:0.00,93.02:0.00,68.59:0.00,24.43:0.00,1.00:0.00,1.00:0.00,1.00:60,60:12.3,41.6:1,0:0,0:58,62:85,87:22,34:-,NM_001164496.1(WDR52) c.5238+19T>G:-,0.73:-,0.697109 3 113015733 . C . . NT END=113022762;NT GT ./. 3 113015956 rs712530 T C 9 nt VT=SNV;PN=A;NN=G;SST=Single;DP=7;DB;DBA=NA;PAF=T/0.3762,C/0.6238;Gene=CFAP44/NM_001164496.1/1;CC=c.5078-224A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:C,T:7:0:0:0:3,4:93,120:8.66,0.00:0.00,0.00:8.66,0.00:0.69,0.00:0.00,0.00:0.69,0.00:60,60:31.0,0.0:0,0:0,0:123,53:27,97:0,3:NM_001164496.1(WDR52) c.5078-224A>G,-:0.65,-:NOT_FOUND,- 3 113022870 rs4682484 T C 411 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=114;DB;DBA=NA;PAF=T/0.03574,C/0.9643;Gene=CFAP44/NM_001164496.1/1;CC=c.4970A>G;ProtCh=p.H1657R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:C:114:77:0:0:114:3573:411.37:202.28:209.08:1.00:1.00:1.00:60:40.7:0:0:78:69:33:NM_001164496.1(WDR52) c.4970A>G (p.His1657Arg),NM_001164496.1(WDR52) c.4970A>G (p.His1657Arg):0.97,0.97:0.95795,0.95795 3 113022965 . C . . NT END=113023882;NT GT ./. 3 113022996 rs2270782 G A 95 nt VT=SNV;PN=A;NN=A;SST=Single;DP=62;DB;DBA=NA;PAF=G/0.2905,A/0.7095;Gene=CFAP44/NM_001164496.1/1;CC=c.4876-32C>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:62:19:0:0:33,1,28:981,11,923:95.44,-0.01,0.00:23.55,-0.03,0.00:71.89,0.02,0.00:1.00,0.00,0.00:1.00,0.00,0.00:1.00,0.00,0.00:60,60,60:50.5,183.0,16.5:0,0,0:0,0,0:107,131,109:38,20,42:17,0,20:NM_001164496.1(WDR52) c.4876-32C>T,-:0.72,-:0.685283,- 3 113023675 rs2270783 G T 11 nt VT=SNV;PN=T;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=G/0.7406,T/0.2594;Gene=CFAP44/NM_001164496.1/1;CC=c.4875+208C>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:119:A,G,T:9:9:0:0:1,4,4:8,123,119:0.22,0.00,11.38:0.22,0.00,11.38:0.00,0.00,0.00:0.00,0.00,0.85:0.00,0.00,0.85:0.00,0.00,0.00:60,60,60:132.0,12.8,37.0:0,0,0:0,0,0:10,62,80:141,88,70:0,32,50:-,NM_001164496.1(WDR52) c.4875+208C>A:-,0.25:-,NOT_FOUND 3 113024000 . C . . NT END=113025047;NT GT ./. 3 113024018 rs2270785 T C 106 nt VT=SNV;PN=T;NN=G;SST=Single;DP=75;DB;DBA=NA;PAF=T/0.7093,C/0.2907;Gene=CFAP44/NM_001164496.1/1;CC=c.4759-19A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:75:39:0:0:36,39:1110,1300:105.56,0.00:41.36,0.00:64.20,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.7,9.2:0,0:0,0:107,107:37,32:19,19:NM_001164496.1(WDR52) c.4759-19A>G,-:0.27,-:0.308147,- 3 113025179 . C . . NT END=113027004;NT GT ./. 3 113027116 . C . . NT END=113045291;NT GT ./. 3 113027214 rs775231 A C 53 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.2009,C/0.7991;PC=0.001;Gene=CFAP44/NM_001164496.1/1;CC=c.4517-99T>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C:29:0:0:0:12,17:389,530:0.00,52.52:0.00,0.00:0.00,52.52:0.00,1.00:0.00,0.00:0.00,1.00:60,60:2.6,34.9:0,0:0,0:89,93:60,58:41,31:-,NM_001164496.1(WDR52) c.4517-99T>G:-,0.81:-,NOT_FOUND 3 113045488 . C . . NT END=113046462;NT GT ./. 3 113045561 rs3732809 A G 39 nt VT=SNV;PN=A;NN=T;SST=Single;DP=26;DB;DBA=NA;PAF=A/0.888,G/0.112;Gene=CFAP44/NM_001164496.1/1;CC=c.4321-74T>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:26:2:0:0:14,12:447,409:0.00,38.83:0.00,1.69:0.00,37.15:0.00,1.00:0.00,0.76:0.00,1.00:60,60:7.6,36.6:0,0:0,0:124,123:24,28:22,10:-,NM_001164496.1(WDR52) c.4321-74T>C:-,0.11:-,NOT_FOUND 3 113046640 rs13064411 A G 71 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=62;DB;DBA=NA;PAF=A/0.9151,G/0.08486;PC=1.000;Gene=CFAP44/NM_001164496.1/1;CC=c.4143T>C;ProtCh=p.D1381=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:62:31:0:0:36,26:1132,773:0.00,71.33:0.00,26.30:0.00,45.03:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.1,44.8:0,0:0,0:95,81:56,62:26,33:-,NM_001164496.1(WDR52) c.4143T>C (p.(=)):-,0.09:-,0.114104 3 113046667 . C . . NT END=113049014;NT GT ./. 3 113049369 . G A 125 PASS VT=SNV;PN=T;NN=G;SST=Single;DP=88;NP=1;Gene=CFAP44/NM_001164496.1/1;CC=c.3762C>T;ProtCh=p.P1254=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:88:65:0:0:40,48:1327,1551:125.48,0.00:69.30,0.00:56.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:38.7,4.9:0,0:0,0:54,70:95,80:38,40:NM_001164496.1(WDR52) c.3762C>T (p.(=)),-:NOT_FOUND,-:NOT_FOUND,- 3 113049516 . C . . NT END=113052252;NT GT ./. 3 113052431 . C . . NT END=113060590;NT GT ./. 3 113060766 . C . . NT END=113063362;NT GT ./. 3 113063560 . C . . NT END=113077591;NT GT ./. 3 113077723 . C . . NT END=113081711;NT GT ./. 3 113082155 . C . . NT END=113082323;NT GT ./. 3 113082380 . C . . NT END=113084885;NT GT ./. 3 113085157 . C . . NT END=113092257;NT GT ./. 3 113092404 . C . . NT END=113098152;NT GT ./. 3 113098399 . C . . NT END=113099745;NT GT ./. 3 113099908 . C . . NT END=113114596;NT GT ./. 3 113114708 . C . . NT END=113115364;NT GT ./. 3 113115575 . C . . NT END=113118752;NT GT ./. 3 113118848 . C . . NT END=113119391;NT GT ./. 3 113119301 rs7647220 C T 20 nt VT=SNV;PN=C;NN=A;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.5609,T/0.4391;PC=0.007;Gene=CFAP44/NM_001164496.1/1;CC=c.1474+91G>A;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.1474+91G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:13:13:0:0:7,6:206,209:0.00,19.87:0.00,18.00:0.00,1.87:0.00,0.97:0.00,0.97:0.00,0.64:60,60:4.9,36.3:0,0:0,0:31,78:114,72:19,24:-,NM_001164496.1(WDR52) c.1474+91G>A:-,0.44:-,NOT_FOUND 3 113119492 . C . . NT END=113120086;NT GT ./. 3 113120135 . C . . NT END=113120430;NT GT ./. 3 113120587 . C . . NT END=113122698;NT GT ./. 3 113122524 rs6808394 T G 14 nt VT=SNV;PN=T;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8468,G/0.1532;PC=0.002;Gene=CFAP44/NM_001164496.1/1;CC=c.1170+175A>C;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.1170+175A>C;VC=Intron;DM=CFAP44/WD40 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:18:G,T:5:5:0:0:4,1:129,25:13.72,0.00:13.72,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:35.0,0.0:0,0:0,0:31,148:120,3:22,0:NM_001164496.1(WDR52) c.1170+175A>C,-:0.15,-:NOT_FOUND,- 3 113122864 . C . . NT END=113125773;NT GT ./. 3 113125889 . C . . NT END=113127952;NT GT ./. 3 113126043 rs6438146 C T 24 nt VT=SNV;PN=G;NN=C;SST=Single;DP=16;DB;DBA=NA;PAF=C/0.4473,T/0.5527;Gene=CFAP44/NM_001164496.1/1;CC=c.891-155G>A;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.891-155G>A;VC=Intron;Gene=CFAP44-AS1/NR_046728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:16:0:0:0:8,8:260,248:0.00,23.78:0.00,0.00:0.00,23.78:0.00,1.00:0.00,0.00:0.00,1.00:60,60:15.1,36.5:0,0:0,0:105,96:45,54:16,29:-,NM_001164496.1(WDR52) c.891-155G>A:-,0.54:-,NOT_FOUND 3 113127728 rs6788844 A G 7 nt VT=SNV;PN=A;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.053;Gene=CFAP44/NM_001164496.1/1;CC=c.890+225T>C;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.890+225T>C;VC=Intron;Gene=CFAP44-AS1/NR_046728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:A,G:4:4:0:0:2,2:62,69:0.00,6.65:0.00,6.65:0.00,0.00:0.00,0.51:0.00,0.51:0.00,0.00:60,60:52.5,67.0:0,0:0,0:16,30:127,120:4,23:-,NM_001164496.1(WDR52) c.890+225T>C:-,0.31:-,NOT_FOUND 3 113127853 . CAA C 8 idl,rn VT=DEL;SST=Single;DP=22;PC=0.018;Gene=CFAP44/NM_001164496.1/1;CC=c.890+98_890+99delTT;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.890+98_890+99delTT;VC=Intron;Gene=CFAP44-AS1/NR_046728.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:6:CAA,I,C:19:22:3:6:13,3,3:440,91,192:0.00,7.11,7.71:0.00,7.11,7.71:0.00,0.00,0.00:0.00,0.00,0.48:0.00,0.00,0.48:0.00,0.00,0.00:60,60,60:40.6,44.3,77.3:0,0,3:0,0,0:60,20,42:84,128,107:35,7,14:-,NM_001164496.1(WDR52) c.890+98_890+99delTT:-,NOT_FOUND:-,NOT_FOUND 3 113128170 . C . . NT END=113135371;NT GT ./. 3 113128342 rs6438147 T G 12 nt VT=SNV;PN=T;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=T/0.4257,G/0.5743;Gene=CFAP44/NM_001164496.1/1;CC=c.674-173A>C;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.674-173A>C;VC=Intron;Gene=CFAP44-AS1/NR_046728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:132:G,T:8:0:0:0:4,4:130,131:12.50,0.00:0.00,0.00:12.50,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:54.0,4.8:0,0:0,0:117,103:33,47:14,14:NM_001164496.1(WDR52) c.674-173A>C,-:0.56,-:NOT_FOUND,- 3 113135475 . C . . NT END=113138863;NT GT ./. 3 113138763 rs2129434 T G 77 nt VT=SNV;PN=C;NN=G;SST=Single;DP=46;DB;DBA=NA;PAF=T/0.8355,G/0.1645;Gene=CFAP44/NM_001164496.1/1;CC=c.570+101A>C;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.570+101A>C;VC=Intron;Gene=CFAP44-AS1/NR_046728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:46:46:0:0:26,20:783,676:76.96,0.00:70.27,0.00:6.70,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:39.1,1.7:0,0:0,0:43,78:107,72:30,46:NM_001164496.1(WDR52) c.570+101A>C,-:0.16,-:NOT_FOUND,- 3 113139027 . C . . NT END=113144970;NT GT ./. 3 113145125 . C . . NT END=113146033;NT GT ./. 3 113146187 . C . . NT END=113152411;NT GT ./. 3 113146271 rs9869318 T C 57 nt VT=SNV;PN=G;NN=G;SST=Single;DP=39;DB;DBA=NA;PAF=T/0.847,C/0.153;PC=0.023;Gene=CFAP44/NM_001164496.1/1;CC=c.101-85A>G;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.101-85A>G;VC=Intron;Gene=CFAP44-AS1/NR_046728.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:39:9:0:0:20,19:592,649:56.99,0.00:12.57,0.00:44.42,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,1.7:0,0:0,0:102,94:47,54:27,45:NM_001164496.1(WDR52) c.101-85A>G,-:0.15,-:NOT_FOUND,- 3 113152276 rs67304930 CA C 9 rn VT=DEL;SST=Single;DP=8;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;PC=0.003;Gene=CFAP44/NM_001164496.1/1;CC=c.100+135delT;VC=Intron;Gene=CFAP44/NM_018338.3/0;CC=c.100+135delT;VC=Intron;Gene=CFAP44-AS1/NR_046728.1/0;VC=NonCoding;RN=27 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:100:CA,C:8:8:0:3:5,3:122,101:0.00,9.24:0.00,9.24:0.00,0.00:0.00,0.67:0.00,0.67:0.00,0.00:60,60:34.4,7.0:0,0:0,0:107,36:28,114:24,3:-,NM_001164496.1(WDR52) c.100+135delT:-,NOT_FOUND:-,NOT_FOUND 3 113152517 . C . . NT END=113160299;NT GT ./. 3 113160427 . G . . NT END=113164153;NT GT ./. 3 113164109 rs2054823 A G 36 nt VT=SNV;PN=G;NN=A;SST=Single;DP=29;DB;DBA=NA;PAF=A/0.4169,G/0.5831;Gene=SPICE1/NM_144718.3/1;CC=c.*45T>C;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:29:27:0:0:17,12:556,387:0.00,35.88:0.00,30.06:0.00,5.83:0.00,1.00:0.00,1.00:0.00,0.98:60,60:4.0,41.7:0,0:0,0:57,56:93,94:26,34:-,NM_144718.3(SPICE1) c.*45T>C:-,0.57:-,0.533907 3 113164208 . C . . NT END=113165435;NT GT ./. 3 113165288 rs4619761 A T 31 nt VT=SNV;PN=T;NN=A;SST=Single;DP=10;DB;DBA=NA;PAF=A/0.9455,T/0.05451;PC=0.019;Gene=SPICE1/NM_144718.3/1;CC=c.2514+148T>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:12:A,T:10:10:0:0:1,9:32,282:0.00,31.07:0.00,31.07:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:0.0,49.4:0,0:0,0:12,64:139,87:0,16:-,NM_144718.3(SPICE1) c.2514+148T>A:-,0.06:-,NOT_FOUND 3 113165524 . C . . NT END=113166884;NT GT ./. 3 113166988 . C . . NT END=113169182;NT GT ./. 3 113169364 . C . . NT END=113172312;NT GT ./. 3 113169372 rs397874895 G GA 14 idl,rn VT=INS;SST=Single;DP=68;DB;DBA=NA;PAF=G/0.9734,GA/.,GAA/.,GG/.,GGA/0.02656;NP=5;NP=7;Gene=SPICE1/NM_144718.3/1;CC=c.2143-10dupT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:55:A,G,GA,D:68:27:6:4:4,56,6,2:54,1590,195,58:1.43,0.00,13.81,2.98:1.28,0.00,2.01,-0.23:0.14,0.00,11.80,3.21:0.00,0.00,0.80,0.00:0.00,0.00,0.82,0.00:0.00,0.00,0.97,0.00:60,60,60,60:88.8,19.9,4.5,6.0:1,1,0,0:0,0,0,0:33,99,93,69:103,50,39,81:17,24,25,29:-,NM_144718.3(SPICE1) c.2143-10_2143-9insT:-,NOT_FOUND:-,NOT_FOUND 3 113169426 . AT A 22 sb;idl,rn VT=DEL;SST=Single;DP=47;PC=0.024;Gene=SPICE1/NM_144718.3/1;CC=c.2143-64delA;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:AT,I,A:47:12:6:11:31,6,10:826,183,267:0.00,13.98,21.57:0.00,1.00,-0.77:0.00,12.98,22.33:0.00,0.00,0.99:0.00,0.00,0.90:0.00,0.00,1.00:60,60,60:26.9,17.3,41.2:0,0,0:0,0,0:104,106,83:32,44,42:34,23,27:-,NM_144718.3(SPICE1) c.2143-64delA:-,NOT_FOUND:-,NOT_FOUND 3 113172110 rs13091945 T C 16 nt VT=SNV;PN=T;NN=C;SST=Single;DP=10;DB;DBA=NA;PAF=T/0.6348,C/0.3652;PC=0.027;Gene=SPICE1/NM_144718.3/1;CC=c.2142+203A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:157:C,T:10:10:0:0:5,5:171,151:16.48,0.00:16.48,0.00:0.00,0.00:0.95,0.00:0.95,0.00:0.00,0.00:60,60:36.4,7.4:0,0:0,0:33,51:118,99:16,38:NM_144718.3(SPICE1) c.2142+203A>G,-:0.37,-:NOT_FOUND,- 3 113172798 . C . . NT END=113175982;NT GT ./. 3 113175785 rs1872747 T A 10 nt VT=SNV;PN=A;NN=A;SST=Single;DP=6;DB;DBA=NA;PAF=NA;Gene=SPICE1/NM_144718.3/1;CC=c.1657+198A>T;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:94:A,T:6:6:0:0:3,3:99,93:9.53,0.00:9.53,0.00:0.00,0.00:0.73,0.00:0.73,0.00:0.00,0.00:60,60:33.0,0.0:0,0:0,0:15,12:136,139:9,1:NM_144718.3(SPICE1) c.1657+198A>T,-:0.14,-:NOT_FOUND,- 3 113175944 rs5851894 TA T 68 rn VT=DEL;SST=Single;DP=55;DB;DBA=NA;PAF=TA/0.7887,T/0.2113;NP=1097;Gene=SPICE1/NM_144718.3/1;CC=c.1657+38delT;VC=Intron;RN=6 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TA,T:55:51:0:23:32,23:967,733:0.00,68.07:0.00,60.75:0.00,7.32:0.00,1.00:0.00,1.00:0.00,0.98:60,70:7.5,5.5:0,0:0,0:64,42:81,108:37,28:-,NM_144718.3(SPICE1) c.1657+38delT:-,0.2:-,0.252316 3 113176122 rs7637618 G A 142 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.6721,A/0.3279;PC=1.000;Gene=SPICE1/NM_144718.3/1;CC=c.1518C>T;ProtCh=p.P506=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:102:58:0:0:44,58:1515,1728:142.25,0.00:54.78,0.00:87.46,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.6,4.9:0,0:0,0:71,71:76,77:33,37:NM_144718.3(SPICE1) c.1518C>T (p.(=)),-:0.31,-:0.346302,- 3 113176205 . C . . NT END=113178294;NT GT ./. 3 113178471 . c . . NT END=113178729;NT GT ./. 3 113178594 rs6438149 T C 51 nt VT=SNV;PN=G;NN=G;SST=Single;DP=41;DB;DBA=NA;PAF=T/0.8011,C/0.1989;PC=0.015;Gene=SPICE1/NM_144718.3/1;CC=c.1435+870A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:41:27:0:0:19,22:545,686:51.15,0.00:39.08,0.00:12.07,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:41.9,7.4:0,0:0,0:85,82:66,68:51,46:NM_144718.3(SPICE1) c.1435+870A>G,-:0.19,-:NOT_FOUND,- 3 113178734 rs369544007 G GA 33 idl,rn VT=INS;SST=Single;DP=86;DB;DBA=NA;PAF=G/0.6562,A/0.3438;NP=1;NP=3;PC=0.052;Gene=SPICE1/NM_144718.3/1;CC=c.1435+729_1435+730insT;VC=Intron;RN=16 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:76:A,C,G,GA,D:82:69:13:15:7,1,50,13,11:145,14,1639,412,472:8.70,0.01,0.00,33.19,26.77:-1.49,-0.21,0.00,24.06,20.57:10.19,0.22,0.00,9.13,6.20:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,1.00,0.00:0.00,0.00,0.00,0.79,0.00:60,60,60,60,60:53.9,144.0,15.2,41.5,13.6:0,0,0,0,4:0,0,0,0,0:30,116,68,36,31:121,31,82,115,118:12,0,45,24,24:-,NM_144718.3(SPICE1) c.1435+729_1435+730insT:-,NOT_FOUND:-,NOT_FOUND 3 113179099 . c . . NT END=113179286;NT GT ./. 3 113179612 . C . . NT END=113184499;NT GT ./. 3 113184632 . C . . NT END=113186985;NT GT ./. 3 113186745 rs71917202 CTAATTA C 15 nt VT=DEL;SST=Single;DP=9;DB;DBA=NA;PAF=CTAATTA/0.8488,C/0.1512;NP=36;PC=0.009;Gene=SPICE1/NM_144718.3/1;CC=c.1155+235_1155+240delTAATTA;VC=Intron;DM=SPICE1/SPICE;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:142:CTAATTA,C:9:9:0:5:4,5:140,157:0.00,15.40:0.00,15.40:0.00,0.00:0.00,0.96:0.00,0.96:0.00,0.00:60,60:0.0,6.8:0,0:0,0:93,61:57,89:15,11:-,NM_144718.3(SPICE1) c.1155+235_1155+240delTAATTA:-,0.18:-,NOT_FOUND 3 113187252 . C . . NT END=113187608;NT GT ./. 3 113187747 . C . . NT END=113187945;NT GT ./. 3 113188086 . C . . NT END=113207791;NT GT ./. 3 113207758 rs7625841 G A 38 nt VT=SNV;PN=T;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=G/0.4167,A/0.5833;Gene=SPICE1/NM_144718.3/1;CC=c.611+34C>T;VC=Intron;DM=SPICE1/SPICE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:21:21:0:0:12,9:389,289:38.42,0.00:31.82,0.00:6.60,0.00:1.00,0.00:1.00,0.00:0.99,0.00:60,60:39.8,3.7:0,0:0,0:64,52:82,99:21,30:NM_144718.3(SPICE1) c.611+34C>T,-:0.57,-:0.538604,- 3 113207911 . C . . NT END=113212052;NT GT ./. 3 113207968 . CT C 8 rn VT=DEL;SST=Single;DP=17;NP=8;PC=0.005;Gene=SPICE1/NM_144718.3/1;CC=c.493-59delA;VC=Intron;DM=SPICE1/SPICE;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:72:CT,C:17:4:0:3:14,3:462,100:0.00,7.99:0.00,-0.21:0.00,8.20:0.00,0.53:0.00,0.55:0.00,0.91:60,60:4.2,0.0:0,0:0,0:115,95:33,56:21,23:-,NM_144718.3(SPICE1) c.493-59delA:-,NOT_FOUND:-,NOT_FOUND 3 113212041 rs1471884 G A 32 nt VT=SNV;PN=T;NN=G;SST=Single;DP=25;DB;DBA=NA;PAF=G/0.6765,A/0.3235;Gene=SPICE1/NM_144718.3/1;CC=c.492+12C>T;VC=Intron;DM=SPICE1/SPICE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:25:23:0:0:11,14:342,476:31.97,0.00:27.37,0.00:4.60,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:39.5,3.1:0,0:0,0:53,62:96,87:9,18:NM_144718.3(SPICE1) c.492+12C>T,-:0.31,-:0.343611,- 3 113212160 . C . . NT END=113212895;NT GT ./. 3 113212990 . C . . NT END=113218285;NT GT ./. 3 113218206 rs6798938 C T 33 nt VT=SNV;PN=A;NN=G;SST=Single;DP=24;DB;DBA=NA;PAF=C/0.8133,G/.,T/0.1867;Gene=SPICE1/NM_144718.3/1;CC=c.291+80G>A;VC=Intron;DM=SPICE1/SPICE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,G,T:24:24:0:0:1,11,1,11:10,355,23,346:0.12,0.00,1.21,33.19:0.13,0.00,1.23,28.20:-0.02,0.00,-0.02,4.99:0.00,0.00,0.00,1.00:0.00,0.00,0.00,1.00:0.00,0.00,0.00,0.95:60,60,60,60:64.0,25.3,139.0,35.6:0,0,0,0:0,0,0,0:30,39,55,46:119,111,95,105:0,30,0,26:-,NM_144718.3(SPICE1) c.291+80G>A:-,0.18:-,NOT_FOUND 3 113218430 . C . . NT END=113222026;NT GT ./. 3 113222036 rs11537650 G A 80 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=50;DB;DBA=NA;PAF=G/0.7558,A/0.2442,C/.;PC=1.000;Gene=SPICE1/NM_144718.3/1;CC=c.138C>T;ProtCh=p.P46=;VC=Silent;DM=SPICE1/SPICE GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:50:39:0:0:26,24:821,692:79.52,0.00:48.79,0.00:30.73,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:42.8,14.8:0,0:0,0:51,62:95,61:34,38:NM_144718.3(SPICE1) c.138C>T (p.(=)),-:0.24,-:0.270686,- 3 113222075 . C . . NT END=113225353;NT GT ./. 3 113222099 rs371203329 T TA 12 idl,rn VT=INS;SST=Single;DP=36;DB;DBA=NA;PAF=NA;NP=5;PC=0.001;Gene=SPICE1/NM_144718.3/1;CC=c.100-26_100-25insT;VC=Intron;RN=14 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:4:A,T,TA,D:35:23:6:5:1,24,5,5:34,720,183,154:2.03,0.00,12.25,11.95:1.03,0.00,4.78,8.05:1.00,0.00,7.48,3.91:0.00,0.00,0.78,0.00:0.00,0.00,0.92,0.00:0.00,0.00,0.94,0.00:60,60,60,60:34.0,39.7,62.8,29.0:0,0,1,0:0,0,0,0:86,89,89,91:56,48,42,59:0,23,21,25:-,NM_144718.3(SPICE1) c.100-26_100-25insT:-,NOT_FOUND:-,NOT_FOUND 3 113225453 . C . . NT END=113233643;NT GT ./. 3 113225660 rs1552432 G C 15 nt VT=SNV;PN=G;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.8107,C/0.1893;PC=0.001;Gene=SPICE1/NM_144718.3/1;CC=c.1-208C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:4:C,G:5:0:0:0:4,1:139,10:14.78,0.00:0.00,0.00:14.78,0.00:0.96,0.00:0.00,0.00:0.96,0.00:60,60:62.5,63.0:0,0:0,0:96,67:54,84:27,0:NM_144718.3(SPICE1) c.1-208C>G,-:0.18,-:NOT_FOUND,- 3 113233686 . A . . NT END=113251868;NT GT ./. 3 113252091 . G . . NT END=113285266;NT GT ./. 3 113285185 rs71633326 TTG T 61 idl,rn VT=DEL;SST=Single;DP=51;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=545;PC=0.001;Gene=SIDT1/NM_001308350.1/1;CC=c.223-56_223-55delGT;VC=Intron;Gene=SIDT1/NM_017699.2/0;CC=c.223-56_223-55delGT;VC=Intron;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTG,T:48:44:0:25:26,22:738,734:0.00,60.81:0.00,47.42:0.00,13.39:0.00,1.00:0.00,1.00:0.00,1.00:60,60:14.5,18.7:0,3:0,0:51,38:99,99:34,16:-,NM_017699.2(SIDT1) c.223-81_223-80delTG:-,NOT_FOUND:-,NOT_FOUND 3 113285389 . G . . NT END=113286386;NT GT ./. 3 113286558 . G . . NT END=113295768;NT GT ./. 3 113295815 . G . . NT END=113299454;NT GT ./. 3 113299557 . G . . NT END=113300207;NT GT ./. 3 113300183 rs2271494 A T 43 nt VT=SNV;PN=C;NN=T;SST=Single;DP=38;DB;DBA=NA;PAF=A/0.4742,T/0.5258;PC=0.348;Gene=SIDT1/NM_001308350.1/1;CC=c.664-25A>T;VC=Intron;Gene=SIDT1/NM_017699.2/0;CC=c.664-25A>T;VC=Intron;DM=SIDT1/SID-1_RNA_chan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,T:38:33:0:0:24,14:818,469:0.00,42.71:0.00,24.92:0.00,17.79:0.00,1.00:0.00,1.00:0.00,1.00:60,60:4.6,53.9:0,0:0,0:48,56:96,85:22,27:-,NM_017699.2(SIDT1) c.664-25A>T:-,0.54:-,0.45479 3 113300292 . G . . NT END=113302255;NT GT ./. 3 113302344 . G . . NT END=113303544;NT GT ./. 3 113303617 . G . . NT END=113304023;NT GT ./. 3 113304118 . G . . NT END=113311851;NT GT ./. 3 113311896 . G . . NT END=113320434;NT GT ./. 3 113320507 . G . . NT END=113321851;NT GT ./. 3 113321662 rs3773687 C T 32 nt VT=SNV;PN=A;NN=A;SST=Single;DP=21;DB;DBA=NA;PAF=C/0.8454,T/0.1546;PC=0.843;Gene=SIDT1/NM_001308350.1/1;CC=c.1118-190C>T;VC=Intron;Gene=SIDT1/NM_017699.2/0;CC=c.1118-190C>T;VC=Intron;DM=SIDT1/SID-1_RNA_chan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:21:21:0:0:11,10:345,331:0.00,31.57:0.00,31.57:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:24.4,41.6:0,0:0,0:103,67:47,83:34,26:-,NM_017699.2(SIDT1) c.1118-190C>T:-,0.16:-,NOT_FOUND 3 113321998 . G . . NT END=113322806;NT GT ./. 3 113322881 . G . . NT END=113323756;NT GT ./. 3 113323824 . G . . NT END=113325887;NT GT ./. 3 113325585 rs9866412 C A 15 nt VT=SNV;PN=T;NN=G;SST=Single;DP=4;DB;DBA=NA;PAF=C/0.03155,A/0.9685;Gene=SIDT1/NM_001308350.1/1;CC=c.1405-303C>A;VC=Intron;Gene=SIDT1/NM_017699.2/0;CC=c.1405-303C>A;VC=Intron;DM=SIDT1/SID-1_RNA_chan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:4:0:0:4:126:14.51:14.51:0.00:1.00:1.00:0.00:60:49.0:0:0:18:132:12:NM_017699.2(SIDT1) c.1405-303C>A,NM_017699.2(SIDT1) c.1405-303C>A:0.97,0.97:NOT_FOUND,NOT_FOUND 3 113325962 . G . . NT END=113326940;NT GT ./. 3 113326669 rs1567778 C T 17 nt VT=SNV;PN=A;NN=G;SST=Single;DP=9;DB;DBA=NA;PAF=C/0.6536,T/0.3464;PC=0.002;Gene=SIDT1/NM_001308350.1/1;CC=c.1479-272C>T;VC=Intron;Gene=SIDT1/NM_017699.2/0;CC=c.1479-272C>T;VC=Intron;DM=SIDT1/SID-1_RNA_chan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:99:C,T:9:9:0:0:3,6:103,171:0.00,17.41:0.00,17.41:0.00,0.00:0.00,0.99:0.00,0.99:0.00,0.00:60,60:6.3,45.2:0,0:0,0:56,33:95,116:12,23:-,NM_017699.2(SIDT1) c.1479-272C>T:-,0.34:-,NOT_FOUND 3 113327065 . G . . NT END=113327265;NT GT ./. 3 113327384 . G . . NT END=113329854;NT GT ./. 3 113329992 . G . . NT END=113330932;NT GT ./. 3 113331042 . G . . NT END=113333909;NT GT ./. 3 113333925 . G . . NT END=113334943;NT GT ./. 3 113334752 rs2271498 A G 16 nt VT=SNV;PN=C;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.6653,G/0.3347;Gene=SIDT1/NM_001308350.1/1;CC=c.1982-195A>G;VC=Intron;Gene=SIDT1/NM_017699.2/0;CC=c.1967-195A>G;VC=Intron;DM=SIDT1/SID-1_RNA_chan GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:5:0:0:5:139:16.26:16.26:0.00:1.00:1.00:0.00:60:27.8:0:0:97:54:36:NM_017699.2(SIDT1) c.1967-195A>G,NM_017699.2(SIDT1) c.1967-195A>G:0.37,0.37:NOT_FOUND,NOT_FOUND 3 113335024 . G . . NT END=113338526;NT GT ./. 3 113338574 . G . . NT END=113342273;NT GT ./. 3 113342161 rs199727147 TA T 15 rn VT=DEL;SST=Single;DP=14;DB;DBA=NA;PAF=NA;NP=24;Gene=SIDT1/NM_001308350.1/1;CC=c.2106-100delA;VC=Intron;Gene=SIDT1/NM_017699.2/0;CC=c.2091-100delA;VC=Intron;DM=SIDT1/SID-1_RNA_chan;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:158:TA,I,T:13:14:2:5:7,1,5:192,36,157:0.00,-0.17,14.52:0.00,-0.17,14.52:0.00,0.00,0.00:0.00,0.00,0.90:0.00,0.00,0.90:0.00,0.00,0.00:60,60,60:13.1,20.0,28.6:0,1,0:0,0,0:29,79,63:122,71,83:18,46,18:-,NM_017699.2(SIDT1) c.2091-112delA:-,NOT_FOUND:-,NOT_FOUND 3 113342380 . G . . NT END=113342469;NT GT ./. 3 113342581 . G . . NT END=113344948;NT GT ./. 3 113345063 . G . . NT END=113346492;NT GT ./. 3 113346556 . A . . NT END=113373790;NT GT ./. 3 113373930 rs930818 A G 251 PASS VT=SNV;PN=C;NN=C;SST=Single;DP=70;DB;DBA=NA;PAF=G/0.0009984,A/0.999;NP=3460;PC=1.000;Gene=USF3/NM_001009899.3/1;CC=c.6599T>C;ProtCh=p.V2200A;VC=Missense;Gene=USF3/NR_111981.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:G:70:50:0:0:70:2174:250.54:144.89:105.66:1.00:1.00:1.00:60:41.4:0:0:55:96:36:NM_001009899.2(KIAA2018) c.6599T>C (p.Val2200Ala),NM_001009899.2(KIAA2018) c.6599T>C (p.Val2200Ala):1,1:0.998206,0.998206 3 113376110 rs59990801 TTGC T 255 idl,rn VT=DEL;SST=Single;DP=144;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=687;PC=1.000;Gene=USF3/NM_001009899.3/1;CC=c.4416_4418delGCA;ProtCh=p.Q1478del;VC=InFrameDel;Gene=USF3/NR_111981.1/0;VC=NonCoding;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:TTGC,T:127:91:0:96:48,79:1464,3030:0.00,255.47:0.00,148.94:0.00,106.53:0.00,1.00:0.00,1.00:0.00,1.00:60,60:10.9,7.0:0,17:0,0:129,56:20,93:9,20:-,NM_001009899.2(KIAA2018) c.4383GCA[11] (p.Gln1462[16]):-,NOT_FOUND:-,NOT_FOUND 3 113377338 rs185811034 T C 119 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=79;DB;DBA=NA;PAF=NA;NP=2;PC=0.860;Gene=USF3/NM_001009899.3/1;CC=c.3191A>G;ProtCh=p.H1064R;VC=Missense;Gene=USF3/NR_111981.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:79:46:0:0:40,39:1242,1277:119.44,0.00:58.60,0.00:60.84,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:64.0,9.8:0,0:0,0:56,46:86,93:35,34:NM_001009899.2(KIAA2018) c.3191A>G (p.His1064Arg),-:0.0005,-:0.000082,- 3 113377361 rs9813630 A G 118 PASS VT=SNV;PN=C;NN=T;SST=Single;DP=83;DB;DBA=NA;PAF=A/0.6957,G/0.3043;Gene=USF3/NM_001009899.3/1;CC=c.3168T>C;ProtCh=p.N1056=;VC=Silent;Gene=USF3/NR_111981.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G,T:83:52:0:0:43,39,1:1412,1240,10:0.00,117.97,-0.11:0.00,57.83,-0.12:0.00,60.14,0.01:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:8.5,63.6,159.0:0,0,0:0,0,0:61,48,61:82,102,90:39,23,0:-,NM_001009899.2(KIAA2018) c.3168T>C (p.(=)):-,0.35:-,0.35686 3 113377481 rs78597857 GT G 21 idl,rn VT=DEL;SST=Single;DP=109;DB;DBA=NA;PAF=NA;NP=64;PC=0.902;Gene=USF3/NM_001009899.3/1;CC=c.3047delA;ProtCh=p.N1016Tfs*23;VC=FrameShiftDel;Gene=USF3/NR_111981.1/0;VC=NonCoding;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:60:GT,I,G:106:78:10:10:89,8,9:2855,307,336:0.00,16.31,21.42:0.00,8.50,10.34:0.00,7.81,11.08:0.00,0.00,0.95:0.00,0.00,0.99:0.00,0.00,0.96:60,60,60:13.6,23.0,3.2:0,2,1:0,0,0:75,54,40:70,84,110:38,39,20:-,NM_001009899.2(KIAA2018) c.3037A[10] (p.Asn1016Thrfs*23):-,NOT_FOUND:-,NOT_FOUND 3 113379865 rs9866806 G C 153 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=110;DB;DBA=NA;PAF=G/0.7933,C/0.2067;PC=1.000;Gene=USF3/NM_001009899.3/1;CC=c.664C>G;ProtCh=p.P222A;VC=Missense;Gene=USF3/NR_111981.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,G:110:67:0:0:50,60:1617,1996:152.56,0.00:78.37,0.00:74.19,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:39.6,9.3:0,0:0,0:84,64:67,84:46,36:NM_001009899.2(KIAA2018) c.664C>G (p.Pro222Ala),-:0.26,-:0.273755,- 3 113380273 . C . . NT END=113383159;NT GT ./. 3 113380332 rs3796254 T C 53 nt VT=SNV;PN=T;NN=G;SST=Single;DP=37;DB;DBA=NA;PAF=T/0.7562,C/0.2438;PC=0.001;Gene=USF3/NM_001009899.3/1;CC=c.257-60A>G;VC=Intron;Gene=USF3/NR_111981.1/0;VC=NonCoding GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,T:37:14:0:0:1,19,17:9,552,566:-0.02,53.33,0.00:0.15,14.25,0.00:-0.17,39.08,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:122.0,32.0,1.4:0,0,0:0,0,0:132,104,86:19,34,64:0,23,20:NM_001009899.2(KIAA2018) c.257-60A>G,-:0.29,-:NOT_FOUND,- 3 113383257 . C . . NT END=113388967;NT GT ./. 3 113389051 . C . . NT END=113392194;NT GT ./. 3 113392224 . C . . NT END=113393678;NT GT ./. 3 113393726 . G . . NT END=113440606;NT GT ./. 3 113440785 . C . . NT END=113441752;NT GT ./. 3 113441820 . C . . NT END=113442268;NT GT ./. 3 113442198 rs3732793 C A 35 nt VT=SNV;PN=A;NN=T;SST=Single;DP=23;DB;DBA=NA;PAF=C/0.7079,A/0.2921;Gene=NAA50/NM_001308445.1/1;CC=c.262+71G>T;VC=Intron;Gene=NAA50/NM_025146.3/0;CC=c.265+71G>T;VC=Intron;DM=NAA50/Acetyltransf_1;DM=NAA50/Acetyltransf_1;DM=NAA50/Acetyltransf_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C:23:21:0:0:11,12:363,409:34.63,0.00:24.64,0.00:10.00,0.00:1.00,0.00:1.00,0.00:0.98,0.00:60,60:37.3,0.8:0,0:0,0:11,55:127,95:11,29:NM_025146.2(NAA50) c.265+71G>T,-:0.35,-:NOT_FOUND,- 3 113442389 . C . . NT END=113442805;NT GT ./. 3 113442943 . C . . NT END=113464788;NT GT ./. 3 113464797 . C . . NT END=113497600;NT GT ./. 3 113464859 rs1048892 A G 150 nt VT=SNV;PN=T;NN=G;SST=Single;DP=101;DB;DBA=NA;PAF=A/0.7049,G/0.2951;PC=0.391;Gene=NAA50/NM_001308445.1/1;CC=c.-63T>C;VC=5UTR;Gene=NAA50/NM_025146.3/0;CC=c.-63T>C;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:101:59:0:0:51,50:1609,1564:0.00,149.82:0.00,45.87:0.00,103.94:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.5,39.9:0,0:0,0:93,97:51,49:32,25:-,NM_025146.2(NAA50) c.-63T>C:-,0.35:-,0.334647 3 113497507 rs12636577 A G 18 nt VT=SNV;PN=C;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=A/0.7037,G/0.2963;Gene=ATP6V1A/NM_001690.3/1;CC=c.-13-81A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:174:A,G:12:11:0:0:5,7:172,185:0.00,18.18:0.00,18.56:0.00,-0.38:0.00,0.99:0.00,1.00:0.00,0.72:60,60:8.8,39.1:0,0:0,0:29,43:122,107:22,32:-,NM_001690.3(ATP6V1A) c.-13-81A>G:-,0.35:-,NOT_FOUND 3 113497683 . G . . NT END=113499578;NT GT ./. 3 113499458 rs1430944 G A 40 nt VT=SNV;PN=T;NN=T;SST=Single;DP=12;DB;DBA=NA;PAF=G/0.001398,A/0.9986;NP=124;Gene=ATP6V1A/NM_001690.3/1;CC=c.83-439G>A;VC=Intron;DM=ATP6V1A/ATP-synt_ab_N;DM=ATP6V1A/ATP-synt_ab_N;DM=ATP6V1A/ATP-synt_ab_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:25:A:12:12:0:0:12:347:40.32:40.32:0.00:1.00:1.00:0.00:60:43.7:0:0:45:105:18:NM_001690.3(ATP6V1A) c.83-439G>A,NM_001690.3(ATP6V1A) c.83-439G>A:1,1:NOT_FOUND,NOT_FOUND 3 113499631 . G . . NT END=113499896;NT GT ./. 3 113499733 rs2305545 A G 50 nt VT=SNV;PN=T;NN=T;SST=Single;DP=31;DB;DBA=NA;PAF=A/0.6811,G/0.3189;PC=0.036;Gene=ATP6V1A/NM_001690.3/1;CC=c.83-164A>G;VC=Intron;DM=ATP6V1A/ATP-synt_ab_N;DM=ATP6V1A/ATP-synt_ab_N;DM=ATP6V1A/ATP-synt_ab_N GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:31:19:0:0:15,16:491,514:0.00,49.66:0.00,37.78:0.00,11.88:0.00,1.00:0.00,1.00:0.00,1.00:60,60:7.7,38.6:0,0:0,0:49,66:102,84:29,24:-,NM_001690.3(ATP6V1A) c.83-164A>G:-,0.38:-,NOT_FOUND 3 113500026 . G . . NT END=113503070;NT GT ./. 3 113503286 . G . . NT END=113503542;NT GT ./. 3 113503354 rs2305546 A G 23 nt VT=SNV;PN=C;NN=T;SST=Single;DP=28;DB;DBA=NA;PAF=A/0.6627,G/0.3373;PC=0.037;Gene=ATP6V1A/NM_001690.3/1;CC=c.426+69A>G;VC=Intron;DM=ATP6V1A/ATP-synt_ab_Xtn;DM=ATP6V1A/ATP-synt_ab_Xtn;DM=ATP6V1A/ATP-synt_ab_Xtn GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:28:15:0:0:20,8:646,266:0.00,23.15:0.00,12.87:0.00,10.28:0.00,0.98:0.00,0.98:0.00,0.98:60,60:3.9,34.2:0,0:0,0:74,63:75,88:57,13:-,NM_001690.3(ATP6V1A) c.426+69A>G:-,0.4:-,NOT_FOUND 3 113503681 . G . . NT END=113505078;NT GT ./. 3 113505231 . G . . NT END=113507559;NT GT ./. 3 113507723 . G . . NT END=113508578;NT GT ./. 3 113507954 rs9819945 A G 11 nt VT=SNV;PN=G;NN=C;SST=Single;DP=4;DB;DBA=NA;PAF=A/0.6811,G/0.3189;Gene=ATP6V1A/NM_001690.3/1;CC=c.879+232A>G;VC=Intron;DM=ATP6V1A/ATP-synt_ab GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:25:A,G:4:0:0:0:1,3:31,101:0.00,10.55:0.00,0.00:0.00,10.55:0.00,0.85:0.00,0.00:0.00,0.85:60,60:34.0,41.3:0,0:0,0:132,116:18,30:0,13:-,NM_001690.3(ATP6V1A) c.879+232A>G:-,0.37:-,NOT_FOUND 3 113508499 rs11385012 T TA 12 idl,rn VT=INS;SST=Single;DP=13;DB;DBA=NA;PAF=T/0.6476,TA/0.3524;NP=892;PC=0.003;Gene=ATP6V1A/NM_001690.3/1;CC=c.880-69dupA;VC=Intron;DM=ATP6V1A/ATP-synt_ab;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:128:T,TA:11:12:6:0:7,4:164,191:0.00,11.76:0.00,11.91:0.00,-0.15:0.00,0.79:0.00,0.97:0.00,0.54:60,70:41.4,17.5:0,2:0,0:13,46:136,104:11,37:-,NM_001690.3(ATP6V1A) c.880-80_880-79insA:-,0.4:-,NOT_FOUND 3 113508688 . G . . NT END=113513718;NT GT ./. 3 113513842 . G . . NT END=113513936;NT GT ./. 3 113514052 . G . . NT END=113514722;NT GT ./. 3 113514787 . G . . NT END=113517089;NT GT ./. 3 113516985 rs370636292 C CA 7 rn VT=INS;SST=Single;DP=28;DB;DBA=NA;PAF=NA;NP=1;PC=0.003;Gene=ATP6V1A/NM_001690.3/1;CC=c.1291-95_1291-94insA;VC=Intron;DM=ATP6V1A/ATP-synt_ab;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:38:C,CA:28:28:3:0:25,3:824,99:0.00,7.19:0.00,7.22:0.00,-0.02:0.00,0.44:0.00,0.44:0.00,0.41:60,60:4.1,0.0:0,0:0,0:56,35:95,116:38,5:-,NM_001690.3(ATP6V1A) c.1291-105_1291-104insA:-,NOT_FOUND:-,NOT_FOUND 3 113517294 . G . . NT END=113522429;NT GT ./. 3 113522525 . G . . NT END=113524200;NT GT ./. 3 113522544 rs13321446 T C 49 nt VT=SNV;PN=C;NN=T;SST=Single;DP=24;DB;DBA=NA;PAF=T/0.6971,C/0.3029,G/.;Gene=ATP6V1A/NM_001690.3/1;CC=c.1589+20T>C;VC=Intron;DM=ATP6V1A/ATP-synt_ab_C GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:24:14:0:0:14,10:490,329:48.60,0.00:13.45,0.00:35.15,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:35.0,4.4:0,0:0,0:94,113:56,36:23,10:NM_001690.3(ATP6V1A) c.1589+20T>C,-:0.37,-:0.281096,- 3 113524373 . G . . NT END=113528181;NT GT ./. 3 113524425 rs547136777 C CT 7 rn VT=INS;SST=Single;DP=30;DB;DBA=NA;PAF=NA;PC=0.003;Gene=ATP6V1A/NM_001690.3/1;CC=c.1761+63_1761+64insT;VC=Intron;DM=ATP6V1A/ATP-synt_ab_C;RN=10 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:C,T,CT,D:30:10:3:2:24,1,3,2:787,10,97,66:0.00,-0.08,7.04,4.49:0.00,-0.09,-0.30,1.16:0.00,0.01,7.33,3.33:0.00,0.00,0.43,0.00:0.00,0.00,0.58,0.00:0.00,0.00,0.85,0.00:60,60,60,60:9.5,74.0,0.0,0.0:0,0,0,0:0,0,0,0:101,65,126,101:40,63,25,40:39,0,9,3:-,NM_001690.3(ATP6V1A) c.1761+53_1761+54insT:-,NOT_FOUND:-,NOT_FOUND 3 113528102 . CA C 8 rn VT=DEL;SST=Single;DP=15;NP=14;PC=0.276;Gene=ATP6V1A/NM_001690.3/1;CC=c.1762-68delA;VC=Intron;DM=ATP6V1A/ATP-synt_ab_C;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:33:CA,I,C:15:15:2:3:10,2,3:311,67,97:0.00,5.28,8.07:0.00,3.78,6.48:0.00,1.50,1.59:0.00,0.00,0.55:0.00,0.00,0.55:0.00,0.00,0.47:60,60,60:8.5,60.0,10.7:0,0,0:0,0,0:36,35,39:114,112,111:30,6,28:-,NM_001690.3(ATP6V1A) c.1762-79delA:-,NOT_FOUND:-,NOT_FOUND 3 113528275 . A . . NT END=113557756;NT GT ./. 3 113557690 rs9990079 G A 182 nt VT=SNV;PN=G;NN=A;SST=Single;DP=134;DB;DBA=NA;PAF=G/0.774,A/0.226;Gene=GRAMD1C/NM_017577.4/1;CC=c.-67G>A;VC=5UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:134:120:0:0:61,73:1934,2358:182.33,0.00:123.81,0.00:58.51,0.00:1.00,0.00:1.00,0.00:1.00,0.00:70,70:36.1,8.8:0,0:0,0:41,42:100,102:24,24:NM_017577.4(GRAMD1C) c.-67G>A,-:0.25,-:NOT_FOUND,- 3 113557784 . G . . NT END=113563349;NT GT ./. 3 113557787 rs66781755 AGCC A 511 nt VT=DEL;SST=Single;DP=152;DB;DBA=NA;PAF=AGCC/0.02955,A/0.9704;DB;DBA=NA;PAF=AGCC/0.02955,A/0.9704;NP=1372;PC=0.036;Gene=GRAMD1C/NM_017577.4/1;CC=c.27+7_27+9delCGC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:112:AGCC,A:152:95:0:145:9,143:279,4577:0.00,511.05:0.00,197.78:0.00,313.26:0.00,1.00:0.00,1.00:0.00,1.00:60,70:12.0,12.4:0,0:0,0:143,94:3,51:5,22:NM_017577.4(GRAMD1C) c.27+5_27+7delGCC,NM_017577.4(GRAMD1C) c.27+5_27+7delGCC:0.97,0.97:0.970874,0.970874 3 113563497 . G . . NT END=113588353;NT GT ./. 3 113569738 rs10709957 TC T 35 sb,nt VT=DEL;SST=Single;DP=11;DB;DBA=NA;PAF=NA;NP=9;PC=0.013;Gene=GRAMD1C/NM_017577.4/1;CC=c.174+6246delC;VC=Intron;RN=4 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:11:TC,T:11:1:0:10:1,10:11,314:0.00,34.82:0.00,1.82:0.00,33.00:0.00,1.00:0.00,0.94:0.00,1.00:60,60:88.0,17.6:0,0:0,0:141,106:-26,44:0,19:NM_017577.4(GRAMD1C) c.174+6243delC,NM_017577.4(GRAMD1C) c.174+6243delC:0.99,0.99:NOT_FOUND,NOT_FOUND 3 113569797 rs13078956 G C 19 nt VT=SNV;PN=C;NN=T;SST=Single;DP=5;DB;DBA=NA;PAF=G/0.7586,C/0.2414;PC=0.001;Gene=GRAMD1C/NM_017577.4/1;CC=c.174+6301G>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:C:5:0:0:0:5:166:18.98:0.00:18.98:1.00:0.00:1.00:60:52.8:0:0:105:46:11:NM_017577.4(GRAMD1C) c.174+6301G>C,NM_017577.4(GRAMD1C) c.174+6301G>C:0.29,0.29:NOT_FOUND,NOT_FOUND 3 113588439 . G . . NT END=113594330;NT GT ./. 3 113594377 rs13079383 A G 74 PASS VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=A/0.7578,G/0.2422;PC=0.034;Gene=GRAMD1C/NM_017577.4/1;CC=c.306A>G;ProtCh=p.L102=;VC=Silent;DM=GRAMD1C/GRAM;DM=GRAMD1C/GRAM GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:47:G:19:15:0:0:19:646:73.66:34.44:39.22:1.00:1.00:1.00:60:36.6:0:0:82:68:22:NM_017577.4(GRAMD1C) c.306A>G (p.(=)),NM_017577.4(GRAMD1C) c.306A>G (p.(=)):0.29,0.29:0.283023,0.283023 3 113594435 . G . . NT END=113595011;NT GT ./. 3 113595108 . G . . NT END=113601598;NT GT ./. 3 113595156 rs2712350 C G 57 nt VT=SNV;PN=T;NN=C;SST=Single;DP=15;DB;DBA=NA;PAF=C/0.01637,G/0.9836;Gene=GRAMD1C/NM_017577.4/1;CC=c.459+49C>G;VC=Intron;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:34:G:15:3:0:0:15:500:57.08:7.95:49.13:1.00:1.00:1.00:60:45.5:0:0:82:69:28:NM_017577.4(GRAMD1C) c.459+49C>G,NM_017577.4(GRAMD1C) c.459+49C>G:0.98,0.98:0.981163,0.981163 3 113601680 . G . . NT END=113616317;NT GT ./. 3 113604164 rs13087406 T C 160 nt VT=SNV;PN=C;NN=G;SST=Single;DP=45;DB;DBA=NA;PAF=T/0.845,C/0.155;PC=1.000;Gene=GRAMD1C/NM_017577.4/1;CC=c.540+2485T>C;VC=Intron;DM=GRAMD1C/DUF4782;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:125:C:45:42:0:0:45:1384:159.81:113.15:46.66:1.00:1.00:1.00:60:38.8:0:0:63:76:38:NM_017577.4(GRAMD1C) c.540+2485T>C,NM_017577.4(GRAMD1C) c.540+2485T>C:0.15,0.15:NOT_FOUND,NOT_FOUND 3 113604916 . C G 7 sb,nt VT=SNV;PN=G;NN=G;SST=Single;DP=42;PC=0.165;Gene=GRAMD1C/NM_017577.4/1;CC=c.540+3237C>G;VC=Intron;DM=GRAMD1C/DUF4782;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:29:A,C,G:42:34:0:0:1,36,5:24,1119,113:0.90,0.00,7.17:-0.36,0.00,-1.86:1.26,0.00,9.03:0.00,0.00,0.76:0.00,0.00,0.95:0.00,0.00,0.59:56,60,60:33.0,5.7,49.0:0,0,0:0,0,0:38,70,23:82,76,112:0,30,9:-,NM_017577.4(GRAMD1C) c.540+3237C>G:-,NOT_FOUND:-,NOT_FOUND 3 113605375 rs2566973 T C 15 nt VT=SNV;PN=T;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=T/0.1759,C/0.8241;PC=0.017;Gene=GRAMD1C/NM_017577.4/1;CC=c.540+3696T>C;VC=Intron;DM=GRAMD1C/DUF4782;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:C:4:0:0:0:4:129:14.81:0.00:14.81:1.00:0.00:1.00:60:75.5:0:0:62:88:27:NM_017577.4(GRAMD1C) c.540+3696T>C,NM_017577.4(GRAMD1C) c.540+3696T>C:0.8,0.8:NOT_FOUND,NOT_FOUND 3 113616661 . G . . NT END=113619877;NT GT ./. 3 113619872 rs2632244 C T 134 nt VT=SNV;PN=A;NN=T;SST=Single;DP=36;DB;DBA=NA;PAF=C/0.007188,T/0.9928;PC=0.977;Gene=GRAMD1C/NM_017577.4/1;CC=c.541-6C>T;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.-75-6C>T;VC=Intron;DM=GRAMD1C/DUF4782;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:98:T:36:32:0:0:36:1172:134.37:96.20:38.17:1.00:1.00:1.00:60:44.1:0:0:47:100:30:NM_017577.4(GRAMD1C) c.541-6C>T,NM_017577.4(GRAMD1C) c.541-6C>T:0.99,0.99:0.993157,0.993157 3 113619994 . G . . NT END=113622986;NT GT ./. 3 113623120 . G . . NT END=113627804;NT GT ./. 3 113627968 . G . . NT END=113631919;NT GT ./. 3 113630020 rs60151773 G GACACACACACACACACACACAC 19 nt VT=INS;SST=Single;DP=5;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=G/0.06729,GACACACACACAC/.,GACACACACACACAC/0.9327,GACACACACACACACAC/.;DB;DBA=NA;PAF=NA;Gene=GRAMD1C/NM_017577.4/1;CC=c.952+2069_952+2070insACACACACACACACACACACAC;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.337+2069_337+2070insACACACACACACACACACACAC;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:GACACACACACACACACACACAC:5:5:5:0:5:169:19.28:9.64:9.64:1.00:1.00:1.00:70:10.8:0:0:74:68:23:NM_017577.4(GRAMD1C) c.952+2053_952+2054insACACACACACACACACACACAC,NM_017577.4(GRAMD1C) c.952+2053_952+2054insACACACACACACACACACACAC:NOT_FOUND,NOT_FOUND:NOT_FOUND,NOT_FOUND 3 113631884 rs2712341 A C 82 nt VT=SNV;PN=G;NN=C;SST=Single;DP=21;DB;DBA=NA;PAF=A/0.6671,C/0.3329;Gene=GRAMD1C/NM_017577.4/1;CC=c.953-2664A>C;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.338-2664A>C;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:53:C:21:18:0:0:21:721:82.12:54.93:27.19:1.00:1.00:1.00:60:38.3:0:0:72:78:37:NM_017577.4(GRAMD1C) c.953-2664A>C,NM_017577.4(GRAMD1C) c.953-2664A>C:0.34,0.34:NOT_FOUND,NOT_FOUND 3 113632008 . G . . NT END=113634547;NT GT ./. 3 113634686 . G . . NT END=113649560;NT GT ./. 3 113634952 rs2712336 G A 15 nt VT=SNV;PN=C;NN=A;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.007188,A/0.9928;NP=247;Gene=GRAMD1C/NM_017577.4/1;CC=c.1090+267G>A;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.475+267G>A;VC=Intron;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:4:A:4:0:0:0:4:127:14.61:0.00:14.61:1.00:0.00:1.00:60:34.8:0:0:137:13:4:NM_017577.4(GRAMD1C) c.1090+267G>A,NM_017577.4(GRAMD1C) c.1090+267G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 3 113649344 rs12632122 T A 17 nt VT=SNV;PN=A;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.8199,A/0.1801;PC=0.991;Gene=GRAMD1C/NM_017577.4/1;CC=c.1091-217T>A;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.476-217T>A;VC=Intron;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:A:5:5:0:0:5:145:16.84:16.84:0.00:1.00:1.00:0.00:60:38.8:0:0:57:94:20:NM_017577.4(GRAMD1C) c.1091-217T>A,NM_017577.4(GRAMD1C) c.1091-217T>A:0.17,0.17:NOT_FOUND,NOT_FOUND 3 113649680 . G . . NT END=113652357;NT GT ./. 3 113652501 . G . . NT END=113653278;NT GT ./. 3 113652774 rs9865782 A G 18 nt VT=SNV;PN=G;NN=A;SST=Single;DP=5;DB;DBA=NA;PAF=A/0.5819,G/0.4181;Gene=GRAMD1C/NM_017577.4/1;CC=c.1352+274A>G;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.737+274A>G;VC=Intron;DM=GRAMD1C/DUF4782 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:6:G:5:0:0:0:5:158:18.18:0.00:18.18:1.00:0.00:1.00:60:39.6:0:0:110:41:33:NM_017577.4(GRAMD1C) c.1352+274A>G,NM_017577.4(GRAMD1C) c.1352+274A>G:0.45,0.45:NOT_FOUND,NOT_FOUND 3 113653383 . G . . NT END=113655112;NT GT ./. 3 113655096 . G GT 12 rn VT=INS;SST=Single;DP=47;NP=9;Gene=GRAMD1C/NM_017577.4/1;CC=c.1457-6dupT;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.842-6dupT;VC=Intron;RN=11 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:61:G,GT,D:47:41:5:1:41,5,1:1245,161,30:0.00,11.63,1.43:0.00,9.51,1.55:0.00,2.12,-0.12:0.00,0.73,0.00:0.00,0.96,0.00:0.00,0.83,0.00:60,60,60:26.4,32.4,12.0:0,0,0:0,0,0:41,28,105:95,121,46:31,4,0:-,NM_017577.4(GRAMD1C) c.1457-17_1457-16insT:-,NOT_FOUND:-,NOT_FOUND 3 113655207 rs3765114 C T 85 PASS VT=SNV;PN=A;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=C/0.77,T/0.23;PC=1.000;Gene=GRAMD1C/NM_017577.4/1;CC=c.1551C>T;ProtCh=p.N517=;VC=Silent;Gene=GRAMD1C/NM_001172105.1/0;CC=c.936C>T;ProtCh=p.N312=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:63:43:0:0:34,29:1079,898:0.00,84.70:0.00,34.73:0.00,49.97:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.3,35.8:0,0:0,0:83,70:65,77:38,29:-,NM_017577.4(GRAMD1C) c.1551C>T (p.(=)):-,0.26:-,0.240735 3 113655290 . G . . NT END=113656932;NT GT ./. 3 113656833 rs1963015 C G 34 nt VT=SNV;PN=A;NN=A;SST=Single;DP=16;DB;DBA=NA;PAF=NA;PC=0.035;Gene=GRAMD1C/NM_017577.4/1;CC=c.1634-100C>G;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.1019-100C>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,G:16:16:0:0:6,10:205,342:0.00,34.37:0.00,34.59:0.00,-0.21:0.00,1.00:0.00,1.00:0.00,0.75:60,60:6.7,50.0:0,0:0,0:49,52:84,98:19,24:-,NM_017577.4(GRAMD1C) c.1634-100C>G:-,0.38:-,NOT_FOUND 3 113656852 rs79719749 C CA 21 idl,rn VT=INS;SST=Single;DP=20;DB;DBA=NA;PAF=C/0.6418,CA/0.3582;DB;DBA=NA;PAF=C/0.6418,CA/0.3582;DB;DBA=NA;PAF=C/0.6418,CA/0.3582;DB;DBA=NA;PAF=NA;NP=2;PC=0.008;Gene=GRAMD1C/NM_017577.4/1;CC=c.1634-61_1634-60insA;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.1019-61_1019-60insA;VC=Intron;RN=20 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,CA,D:18:19:9:1:10,7,1:323,290,34:0.00,20.68,2.35:0.00,20.96,1.10:0.00,-0.28,1.26:0.00,0.97,0.00:0.00,1.00,0.00:0.00,0.75,0.00:60,60,60:25.1,53.0,0.0:0,2,0:0,0,0:52,53,108:98,98,43:36,22,0:-,NM_017577.4(GRAMD1C) c.1634-81_1634-80insA:-,NOT_FOUND:-,NOT_FOUND 3 113656991 . G . . NT END=113658732;NT GT ./. 3 113658844 . G . . NT END=113659086;NT GT ./. 3 113659193 . G . . NT END=113664244;NT GT ./. 3 113664183 rs68028538 CAG C 36 sb,nt VT=DEL;SST=Single;DP=16;DB;DBA=NA;PAF=CAG/0.7105,C/0.2895;DB;DBA=NA;PAF=CAG/0.7105,C/0.2895;NP=1439;PC=0.084;Gene=GRAMD1C/NM_017577.4/1;CC=c.1909-60_1909-59delGA;VC=Intron;Gene=GRAMD1C/NM_001172105.1/0;CC=c.1294-60_1294-59delGA;VC=Intron;RN=0 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:157:CAG,C:16:16:0:11:5,11:168,354:0.00,36.33:0.00,34.73:0.00,1.60:0.00,1.00:0.00,1.00:0.00,0.92:60,70:0.0,2.7:0,0:0,0:50,63:101,85:44,27:-,NM_017577.4(GRAMD1C) c.1909-61_1909-60delAG:-,NOT_FOUND:-,NOT_FOUND 3 113664326 . T . . NT END=113667649;NT GT ./. 3 113667812 . T . . NT END=113672546;NT GT ./. 3 113672409 rs7615622 A G 29 nt VT=SNV;PN=A;NN=T;SST=Single;DP=20;DB;DBA=NA;PAF=A/0.4469,G/0.5531;PC=0.001;Gene=ZDHHC23/NM_173570.3/1;CC=c.162-138A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:20:20:0:0:11,9:320,307:0.00,29.02:0.00,29.02:0.00,0.00:0.00,1.00:0.00,1.00:0.00,0.00:60,60:31.0,40.0:0,0:0,0:32,26:119,125:6,17:-,NM_173570.3(ZDHHC23) c.162-138A>G:-,0.57:-,NOT_FOUND 3 113673125 rs11921691 A G 373 PASS VT=SNV;PN=A;NN=G;SST=Single;DP=222;DB;DBA=NA;PAF=A/0.4026,G/0.5974;PC=0.020;Gene=ZDHHC23/NM_173570.3/1;CC=c.740A>G;ProtCh=p.K247R;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:222:158:0:0:106,116:3562,3844:0.00,372.96:0.00,203.76:0.00,169.19:0.00,1.00:0.00,1.00:0.00,1.00:60,60:6.0,38.1:0,0:0,0:64,66:85,83:38,35:-,NM_173570.3(ZDHHC23) c.740A>G (p.Lys247Arg):-,0.61:-,0.561587 3 113673259 . T . . NT END=113675185;NT GT ./. 3 113675021 rs191999848 G A 50 nt VT=SNV;PN=G;NN=A;SST=Single;DP=22;DB;DBA=NA;PAF=G/0.9986,A/0.001398;NP=6;PC=0.006;Gene=ZDHHC23/NM_173570.3/1;CC=c.873-165G>A;VC=Intron;DM=ZDHHC23/zf-DHHC GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:22:22:0:0:15,7:493,210:50.50,0.00:50.50,0.00:0.00,0.00:1.00,0.00:1.00,0.00:0.00,0.00:60,60:37.9,1.3:0,0:0,0:30,69:118,82:26,50:NM_173570.3(ZDHHC23) c.873-165G>A,-:0.0014,-:NOT_FOUND,- 3 113675355 . T . . NT END=113677209;NT GT ./. 3 113677803 . g . . NT END=113677993;NT GT ./. 3 113679050 rs9848479 A G 155 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=113;DB;DBA=NA;PAF=A/0.399,G/0.601;Gene=ZDHHC23/NM_173570.3/1;CC=c.1217-517A>G;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,G:113:76:0:0:57,56:1894,1628:0.00,155.18:0.00,105.56:0.00,49.62:0.00,1.00:0.00,1.00:0.00,1.00:60,60:9.7,37.2:0,0:0,0:65,79:86,61:29,32:-,NM_173570.3(ZDHHC23) c.1217-517A>G:-,0.61:-,NOT_FOUND 3 113679582 . C . . NT END=113684001;NT GT ./. 3 113679725 rs3732785 C T 30 sb,nt VT=SNV;PN=T;NN=T;SST=Single;DP=19;DB;DBA=NA;PAF=C/0.2218,T/0.7782;PC=0.003;Gene=ZDHHC23/NM_173570.3/1;CC=c.*145C>T;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:19:3:0:0:9,10:271,314:0.00,30.48:0.00,0.91:0.00,29.57:0.00,1.00:0.00,0.90:0.00,1.00:60,60:12.4,36.9:0,0:0,0:116,89:35,61:21,38:-,NM_173570.3(ZDHHC23) c.*145C>T:-,0.75:-,NOT_FOUND 3 113684207 . C . . NT END=113697032;NT GT ./. 3 113697179 . C . . NT END=113697704;NT GT ./. 3 113697858 . C . . NT END=113699496;NT GT ./. 3 113699641 . C . . NT END=113720441;NT GT ./. 3 113720544 . C . . NT END=113721302;NT GT ./. 3 113720624 rs6438178 C T 125 nt VT=SNV;PN=G;NN=G;SST=Single;DP=34;DB;DBA=NA;PAF=C/0.008387,T/0.9916;Gene=CCDC191/NM_020817.1/1;CC=c.2062-81G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:92:T:34:12:0:0:34:1092:125.38:28.88:96.50:1.00:1.00:1.00:60:40.6:0:0:112:33:33:NM_020817.1(KIAA1407) c.2062-81G>A,NM_020817.1(KIAA1407) c.2062-81G>A:0.99,0.99:NOT_FOUND,NOT_FOUND 3 113721386 . C . . NT END=113721620;NT GT ./. 3 113723594 . C . . NT END=113724354;NT GT ./. 3 113724810 . C . . NT END=113729618;NT GT ./. 3 113729869 . C . . NT END=113737524;NT GT ./. 3 113737716 . C . . NT END=113750472;NT GT ./. 3 113750627 . C . . NT END=113753771;NT GT ./. 3 113753937 rs150210060 G A 120 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=93;DB;DBA=NA;PAF=G/0.9972,A/0.002796;NP=44;PC=1.000;Gene=CCDC191/NM_020817.1/1;CC=c.653C>T;ProtCh=p.T218I;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:93:48:0:0:41,52:1279,1736:119.69,0.00:39.51,0.00:80.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:36.8,2.5:0,0:0,0:90,72:60,71:50,38:NM_020817.1(KIAA1407) c.653C>T (p.Thr218Ile),-:0.0046,-:0.00692,- 3 113753996 . C . . NT END=113755454;NT GT ./. 3 113755634 . C . . NT END=113761549;NT GT ./. 3 113761694 . C . . NT END=113765437;NT GT ./. 3 113766021 . C . . NT END=113772443;NT GT ./. 3 113772483 . C . . NT END=113775223;NT GT ./. 3 113775429 . A . . NT END=113775696;NT GT ./. 3 113775712 . G . . NT END=113775845;NT GT ./. 3 113775954 . G . . NT END=113784083;NT GT ./. 3 113784007 rs536027631 A AT 14 idl,rn VT=INS;SST=Single;DP=22;DB;DBA=NA;PAF=A/0.721,AT/0.279;DB;DBA=NA;PAF=A/0.721,AT/0.279;DB;DBA=NA;PAF=A/0.721,AT/0.279;NP=424;Gene=QTRTD1/NM_001256835.1/0;CC=c.16-65dupT;VC=Intron;Gene=QTRTD1/NM_001256836.1/0;CC=c.16-5454dupT;VC=Intron;Gene=QTRTD1/NM_001256837.1/0;CC=c.-134-65dupT;VC=Intron;Gene=QTRTD1/NM_024638.3/1;CC=c.-21-65dupT;VC=Intron;RN=12 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:144:A,AT,D:20:22:7:1:14,5,1:457,232,33:0.00,14.20,2.15:0.00,9.51,2.17:0.00,4.69,-0.02:0.00,0.84,0.00:0.00,0.84,0.00:0.00,0.71,0.00:60,60,60:8.3,44.6,32.0:0,2,0:0,0,0:63,38,46:86,111,105:30,32,0:-,NM_001256835.1(QTRTD1) c.16-77_16-76insT:-,NOT_FOUND:-,NOT_FOUND 3 113784305 . G . . NT END=113785074;NT GT ./. 3 113785131 . G . . NT END=113786833;NT GT ./. 3 113786911 . G . . NT END=113789472;NT GT ./. 3 113789686 . G . . NT END=113795589;NT GT ./. 3 113795790 . G . . NT END=113798752;NT GT ./. 3 113795834 rs7631864 G A 92 nt VT=SNV;PN=G;NN=A;SST=Single;DP=60;DB;DBA=NA;PAF=G/0.7632,A/0.2368,C/.;Gene=QTRTD1/NM_001256835.1/0;CC=c.782+45G>A;VC=Intron;Gene=QTRTD1/NM_001256836.1/0;CC=c.428+45G>A;VC=Intron;Gene=QTRTD1/NM_001256837.1/0;CC=c.377+45G>A;VC=Intron;Gene=QTRTD1/NM_024638.3/1;CC=c.746+45G>A;VC=Intron;DM=QTRTD1/TGT GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:60:20:0:0:30,30:961,1022:92.35,0.00:15.87,0.00:76.47,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:33.2,4.2:0,0:0,0:107,92:44,55:26,20:NM_001256835.1(QTRTD1) c.782+45G>A,-:0.26,-:0.226434,- 3 113798905 . G . . NT END=113801523;NT GT ./. 3 113801118 rs397758706 T TTTG 9 nt VT=INS;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.4704,TTTG/0.5296;DB;DBA=NA;PAF=T/0.4704,TTTG/0.5296;NP=480;PC=0.003;Gene=QTRTD1/NM_001256835.1/0;CC=c.935-405_935-403dupTTG;VC=Intron;Gene=QTRTD1/NM_001256836.1/0;CC=c.581-405_581-403dupTTG;VC=Intron;Gene=QTRTD1/NM_001256837.1/0;CC=c.530-405_530-403dupTTG;VC=Intron;Gene=QTRTD1/NM_024638.3/1;CC=c.899-405_899-403dupTTG;VC=Intron;DM=QTRTD1/TGT;RN=1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:79:T,TTTG:6:3:3:0:3,3:77,97:0.00,9.33:0.00,4.82:0.00,4.51:0.00,0.73:0.00,0.89:0.00,0.51:60,60:0.0,0.0:0,0:0,0:40,89:111,58:1,4:-,NM_001256835.1(QTRTD1) c.935-406_935-405insTTG:-,NOT_FOUND:-,NOT_FOUND 3 113801642 . G . . NT END=113804519;NT GT ./. 3 113804752 . G . . NT END=113847562;NT GT ./. 3 113804979 rs1872575 G A 13 nt VT=SNV;PN=A;NN=A;SST=Single;DP=8;DB;DBA=NA;PAF=G/0.478,A/0.522;PC=0.004;Gene=QTRTD1/NM_001256835.1/0;CC=c.*228G>A;VC=3UTR;Gene=QTRTD1/NM_001256836.1/0;CC=c.*228G>A;VC=3UTR;Gene=QTRTD1/NM_001256837.1/0;CC=c.*228G>A;VC=3UTR;Gene=QTRTD1/NM_024638.3/1;CC=c.*228G>A;VC=3UTR GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:126:A,G:8:0:0:0:4,4:132,122:12.70,0.00:0.00,0.00:12.70,0.00:0.87,0.00:0.00,0.00:0.87,0.00:60,60:40.0,7.8:0,0:0,0:79,99:71,51:47,32:NM_001256835.1(QTRTD1) c.*228G>A,-:0.54,-:NOT_FOUND,- 3 113821846 rs7355941 A G 11 nt VT=SNV;PN=A;NN=C;SST=Single;DP=7;DB;DBA=NA;PAF=A/0.3524,G/0.6476;PC=0.093 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:68:A,G:7:7:0:0:3,4:67,107:0.00,10.53:0.00,10.53:0.00,0.00:0.00,0.90:0.00,0.90:0.00,0.00:60,60:49.3,52.8:0,0:0,0:53,8:98,143:30,4:-,chr3 g.113821845A>G (intergenic):-,0.64:-,NOT_FOUND 3 113847283 rs3732790 T A 12 nt VT=SNV;PN=T;NN=G;SST=Single;DP=5;DB;DBA=NA;PAF=T/0.752,A/0.248;PC=0.943 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,T:5:5:0:0:4,1:112,33:12.01,0.00:12.01,0.00:0.00,0.00:0.96,0.00:0.96,0.00:0.00,0.00:60,60:58.2,0.0:0,0:0,0:88,29:62,122:15,0:chr3 g.113847282T>A (intergenic),-:0.28,-:NOT_FOUND,- 3 113847760 . C . . NT END=113849964;NT GT ./. 3 113850248 . C . . NT END=113858346;NT GT ./. 3 113850489 rs4592996 T C 18 nt VT=SNV;PN=A;NN=G;SST=Single;DP=6;DB;DBA=NA;PAF=T/0.1204,C/0.8796;Gene=DRD3/NM_001290809.1/0;CC=c.724-242A>G;VC=Intron;Gene=DRD3/NM_000796.5/1;CC=c.724-242A>G;VC=Intron;Gene=DRD3/NM_033663.5/0;CC=c.724-242A>G;VC=Intron;Gene=DRD3/NM_001282563.2/0;CC=c.724-242A>G;VC=Intron;DM=DRD3/7tm_1;DM=DRD3/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:8:C:6:0:0:0:6:157:18.43:0.00:18.43:1.00:0.00:1.00:60:45.5:0:0:84:67:56:NM_000796.3(DRD3) c.724-242A>G,NM_000796.3(DRD3) c.724-242A>G:0.89,0.89:NOT_FOUND,NOT_FOUND 3 113858350 rs2251177 C T 270 PASS VT=SNV;PN=G;NN=T;SST=Single;DP=77;DB;DBA=NA;PAF=C/0.04213,A/.,T/0.9579;PC=0.935;Gene=DRD3/NM_001290809.1/0;CC=c.720G>A;ProtCh=p.Q240=;VC=Silent;Gene=DRD3/NM_000796.5/1;CC=c.720G>A;ProtCh=p.Q240=;VC=Silent;Gene=DRD3/NM_033663.5/0;CC=c.720G>A;ProtCh=p.Q240=;VC=Silent;Gene=DRD3/NM_001282563.2/0;CC=c.720G>A;ProtCh=p.Q240=;VC=Silent;DM=DRD3/7tm_1;DM=DRD3/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/1:200:T:77:65:0:0:77:2338:270.39:177.99:92.40:1.00:1.00:1.00:60:34.5:0:0:45:102:23:NM_000796.3(DRD3) c.720G>A (p.(=)),NM_000796.3(DRD3) c.720G>A (p.(=)):0.96,0.96:0.957327,0.957327 3 113858544 . C . . NT END=113866261;NT GT ./. 3 113866405 . C . . NT END=113878601;NT GT ./. 3 113878715 . C . . NT END=113890569;NT GT ./. 3 113890310 rs16822416 G A 11 nt VT=SNV;PN=C;NN=T;SST=Single;DP=4;DB;DBA=NA;PAF=G/0.9065,A/0.09345;Gene=DRD3/NM_001290809.1/0;CC=c.270+260C>T;VC=Intron;Gene=DRD3/NM_000796.5/1;CC=c.270+260C>T;VC=Intron;Gene=DRD3/NM_033663.5/0;CC=c.270+260C>T;VC=Intron;Gene=DRD3/NM_001282563.2/0;CC=c.270+260C>T;VC=Intron;DM=DRD3/7tm_1;DM=DRD3/7tm_1 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:26:A,G:4:4:0:0:3,1:102,32:10.65,0.00:8.78,0.00:1.88,0.00:0.85,0.00:0.85,0.00:0.83,0.00:60,60:55.7,12.0:0,0:0,0:43,89:108,62:27,0:NM_000796.3(DRD3) c.270+260C>T,-:0.08,-:NOT_FOUND,- 3 113890789 rs3732783 T C 180 PASS VT=SNV;PN=C;NN=G;SST=Single;DP=129;DB;DBA=NA;PAF=T/0.9022,C/0.09784;PC=0.038;Gene=DRD3/NM_001290809.1/0;CC=c.51A>G;ProtCh=p.A17=;VC=Silent;Gene=DRD3/NM_000796.5/1;CC=c.51A>G;ProtCh=p.A17=;VC=Silent;Gene=DRD3/NM_033663.5/0;CC=c.51A>G;ProtCh=p.A17=;VC=Silent;Gene=DRD3/NM_001282563.2/0;CC=c.51A>G;ProtCh=p.A17=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:C,T:129:78:0:0:61,68:1898,2270:180.04,0.00:93.86,0.00:86.18,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:40.8,26.5:0,0:0,0:87,87:62,63:34,37:NM_000796.3(DRD3) c.51A>G (p.(=)),-:0.08,-:0.073581,- 3 113890815 rs6280 C T 193 PASS VT=SNV;PN=C;NN=A;SST=Single;DP=125;DB;DBA=in-clinvar;PAF=C/0.4864,T/0.5136;Gene=DRD3/NM_001290809.1/0;CC=c.25G>A;ProtCh=p.G9S;VC=Missense;Gene=DRD3/NM_000796.5/1;CC=c.25G>A;ProtCh=p.G9S;VC=Missense;Gene=DRD3/NM_033663.5/0;CC=c.25G>A;ProtCh=p.G9S;VC=Missense;Gene=DRD3/NM_001282563.2/0;CC=c.25G>A;ProtCh=p.G9S;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:C,T:125:62:0:0:60,65:1950,1993:0.00,192.54:0.00,50.53:0.00,142.01:0.00,1.00:0.00,1.00:0.00,1.00:60,60:35.0,38.7:0,0:0,0:92,81:57,68:34,32:-,NM_000796.3(DRD3) c.25G>A (p.Gly9Ser):-,0.55:-,0.533769 3 113890840 . A . . NT END=113955099;NT GT ./. 3 113891042 rs324026 C T 20 nt VT=SNV;PN=T;NN=T;SST=Single;DP=13;DB;DBA=NA;PAF=C/0.4866,T/0.5134;PC=0.001;Gene=DRD3/NM_001290809.1/0;CC=c.-35-168G>A;VC=Intron;Gene=DRD3/NM_000796.5/1;CC=c.-35-168G>A;VC=Intron;Gene=DRD3/NM_033663.5/0;CC=c.-35-168G>A;VC=Intron;Gene=DRD3/NM_001282563.2/0;CC=c.-35-168G>A;VC=Intron GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:123:A,C,T:13:0:0:0:1,4,8:11,129,197:0.42,0.00,20.12:0.00,0.00,0.00:0.42,0.00,20.12:0.00,0.00,1.00:0.00,0.00,0.00:0.00,0.00,1.00:60,60,60:34.0,9.2,48.9:0,0,0:0,0,0:9,108,100:142,39,50:0,30,11:-,NM_000796.3(DRD3) c.-35-168G>A:-,0.55:-,NOT_FOUND 3 113955055 rs547880982 GA G 28 idl,rn VT=DEL;SST=Single;DP=26;DB;DBA=NA;PAF=NA;DB;DBA=NA;PAF=NA;NP=743;Gene=ZNF80/NM_007136.3/1;CC=c.*44delT;VC=3UTR;RN=13 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:GA,I,G:25:24:1:12:14,1,10:415,28,334:0.00,1.63,27.78:0.00,1.68,22.79:0.00,-0.05,4.99:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,0.97:60,60,60:16.5,131.0,27.5:0,0,1:0,0,0:35,39,29:116,112,119:17,0,8:-,NM_007136.3(ZNF80) c.*32T[12]:-,NOT_FOUND:-,NOT_FOUND 3 113955164 rs3732782 T G 50 PASS VT=SNV;PN=G;NN=C;SST=Single;DP=63;DB;DBA=NA;PAF=T/0.3059,G/0.6941;Gene=ZNF80/NM_007136.3/1;CC=c.758A>C;ProtCh=p.D253A;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:G,T:63:50:0:0:19,44:579,1385:50.22,0.00:30.32,0.00:19.91,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:47.9,10.0:0,0:0,0:96,62:55,85:35,31:NM_007136.3(ZNF80) c.758A>C (p.Asp253Ala),-:0.68,-:0.696602,- 3 113955265 rs6438190 G A 74 PASS VT=SNV;PN=T;NN=C;SST=Single;DP=79;DB;DBA=NA;PAF=G/0.3069,A/0.6931,T/.;PC=0.001;Gene=ZNF80/NM_007136.3/1;CC=c.657C>T;ProtCh=p.C219=;VC=Silent;DM=ZNF80/zf-C2H2 GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,G:79:59:0:0:26,53:833,1758:73.99,0.00:42.98,0.00:31.00,0.00:1.00,0.00:1.00,0.00:1.00,0.00:60,60:65.5,7.2:0,0:0,0:47,58:101,91:26,41:NM_007136.3(ZNF80) c.657C>T (p.(=)),-:0.68,-:0.696755,- 3 113955320 rs6438191 C T 102 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=98;DB;DBA=NA;PAF=C/0.3073,T/0.6927;Gene=ZNF80/NM_007136.3/1;CC=c.602G>A;ProtCh=p.R201H;VC=Missense GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 0/1:200:A,C,T:98:73:0:0:1,60,37:10,1895,1126:-0.16,0.00,102.24:-0.04,0.00,63.31:-0.12,0.00,38.93:0.00,0.00,1.00:0.00,0.00,1.00:0.00,0.00,1.00:60,60,60:83.0,9.1,53.2:0,0,0:0,0,0:48,69,55:68,80,90:0,25,34:-,NM_007136.3(ZNF80) c.602G>A (p.Arg201His):-,0.68:-,0.696755 3 113955820 rs3732780 G C 141 PASS VT=SNV;PN=G;NN=G;SST=Single;DP=102;DB;DBA=NA;PAF=G/0.6885,A/.,C/0.3115;Gene=ZNF80/NM_007136.3/1;CC=c.102C>G;ProtCh=p.S34=;VC=Silent GT:GQ:AB:DP:FC:INS:DEL:AD:QS:LOD:LDF:LDR:PW:PWF:PWR:MMQ:MMQS:IDL:MQ0:MDL:MDR:MDM:CGIANN_VARNAME:CGIANN_1000GAF:CGIANN_ESP6500AF 1/0:200:A,C,G:102:62:0:0:1,46,55:11,1489,1770:-0.11,140.61,0.00:-0.10,78.38,0.00:-0.02,62.23,0.00:0.00,1.00,0.00:0.00,1.00,0.00:0.00,1.00,0.00:60,60,60:78.0,40.3,6.2:0,0,0:0,0,0:97,84,66:54,66,84:0,39,37:NM_007136.3(ZNF80) c.102C>G (p.(=)),-:0.32,-:0.286714,- 3 113955922 . C . . NT END=114012908;NT GT ./. 3 114012970 . G . . NT END=114014391;NT GT